Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
ATAD3B	83858	broad.mit.edu	37	chr1	1430871	1430871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctctcttcactaggccacgGcatatgcctccaaggacggg	8	9	10	14	2	3	0	1	0	2	0	5	1	4	1	3	4	1	1	3	4	3	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:1430871G>A	ENST00000308647.7	+	16	1737	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	541						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTAGGCCACGGCATATGCCTC	0.632																																						uc001afv.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1621-1623)Gca>Aca		Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.							63	66	65					1																	1430871		2203	4295	6498	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1430871G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1621G>A	1.37:g.1430871G>A	ENSP00000311766:p.Ala541Thr					ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Missense_Mutation_p.A495T	p.A541T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	1722	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	541					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1621G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	g	11.06	1.527078	0.27299	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.96104	-3.91	1.39	1.39	0.22231	.	0.000000	0.85682	U	0.000000	D	0.96231	0.8771	M	0.89904	3.07	0.80722	D	1	P;P	0.43287	0.802;0.701	P;B	0.49332	0.607;0.403	D	0.95302	0.8404	10	0.66056	D	0.02	.	8.2434	0.31673	0.0:0.0:1.0:0.0	.	495;541	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	T	375;541	ENSP00000311766:A541T	ENSP00000311766:A541T	A	+	1	0	ATAD3B	1420734	1.000000	0.71417	0.852000	0.33557	0.023000	0.10783	8.319000	0.89992	1.078000	0.41014	0.194000	0.17425	GCA		0.632	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		A	1430871	G	A	1430871	3	1	1	1	0	0	0	0	1	0	0	0	1074	1203	42	3	1683	3	ATAD3B	1	1430871	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		1430871	247819750	1	1											
TPM3	7170	broad.mit.edu	37	chr1	154148652	154148652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagggcagtggccaggcGctcctgagcacggtccagct	6	7	15	13	2	0	1	0	1	0	0	2	1	2	1	3	4	3	5	3	4	0	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:154148652G>A	ENST00000368530.2	-	3	508	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	TPM3_ENST00000330188.9_Missense_Mutation_p.R69C|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000368531.2_Missense_Mutation_p.R69C|TPM3_ENST00000368533.3_Missense_Mutation_p.R69C|TPM3_ENST00000341485.5_Missense_Mutation_p.R69C|TPM3_ENST00000323144.7_Missense_Mutation_p.R69C|TPM3_ENST00000271850.7_Missense_Mutation_p.R106C|TPM3_ENST00000302206.5_5'UTR|TPM3_ENST00000341372.3_Missense_Mutation_p.R44C|TPM3_ENST00000328159.4_Missense_Mutation_p.R69C	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	106					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GTGGCCAGGCGCTCCTGAGCA	0.527			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																	uc001fec.1				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"E, L"	"NTRK1, ALK, ROS1"		"papillary thyroid, ALCL, NSCLC"	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(316-318)Cgc>Tgc		Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.							99	92	94					1																	154148652		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154148652G>A	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.316C>T	1.37:g.154148652G>A	ENSP00000357516:p.Arg106Cys					TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc010pej.1_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	p.R106C	NM_152263	NP_689476	P06753	TPM3_HUMAN			2	431	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		105					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.316C>T	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870677	0.72065	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	H	0.95574	3.69	0.80722	D	1	B;D;B;B;P;B	0.76494	0.103;0.999;0.005;0.189;0.856;0.384	B;D;B;B;P;B	0.77557	0.219;0.99;0.022;0.211;0.744;0.202	D	0.95076	0.8209	10	0.87932	D	0	-0.75	18.8706	0.92311	0.0:0.0:1.0:0.0	.	69;105;69;69;69;69	Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;TPM3_HUMAN;.;.;.;.	C	69;69;69;45;69;106;69;69;106	ENSP00000357521:R69C;ENSP00000341653:R69C;ENSP00000339035:R69C;ENSP00000339378:R45C;ENSP00000357520:R69C;ENSP00000271850:R106C;ENSP00000357517:R69C;ENSP00000357518:R69C;ENSP00000357516:R106C	ENSP00000271850:R106C	R	-	1	0	TPM3	152415276	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.870000	0.87175	2.568000	0.86640	0.556000	0.70494	CGC		0.527	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		A	154148652	G	A	154148652	3	1	1	1	0	0	0	0	1	0	0	0	16404	1087	38	1	824	1	TPM3	1	154148652	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	152717781	154148652	95101969	2	2											
NR1I3	9970	broad.mit.edu	37	chr1	161206281	161206281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagccctcacaagtcagCgcattaaagtggtagcctgt	10	10	10	11	1	2	0	2	0	0	0	2	0	2	0	2	1	4	3	2	1	4	3	rs140012276	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:161206281C>T	ENST00000367982.4	-	2	230	c.75G>A	c.(73-75)gcG>gcA	p.A25A	NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367985.3_Silent_p.A25A|NR1I3_ENST00000367980.2_Silent_p.A25A|NR1I3_ENST00000515452.1_Silent_p.A25A|NR1I3_ENST00000367979.2_Silent_p.A25A|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Silent_p.A25A|NR1I3_ENST00000367983.4_Silent_p.A25A|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000428574.2_Silent_p.A25A|NR1I3_ENST00000367984.4_Silent_p.A25A|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000442691.2_Silent_p.A25A|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000505005.1_Silent_p.A25A|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000502985.1_Silent_p.A25A			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	25					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACAAGTCAGCGCATTAAAGT	0.532																																						uc001fzx.3																			0		p.A25V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(73-75)gcG>gcA		Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.		C	,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	184	164	171		75,,75,,,75,,,,75,,75,75,75,75	0.2	1	1	dbSNP_134	171	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron,coding-synonymous,intron,intron,coding-synonymous,intron,intron,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NR1I3	NM_001077469.2,NM_001077470.2,NM_001077471.2,NM_001077472.2,NM_001077473.2,NM_001077474.2,NM_001077475.2,NM_001077476.2,NM_001077477.2,NM_001077478.2,NM_001077479.2,NM_001077480.2,NM_001077481.2,NM_001077482.2,NM_005122.4	,,,,,,,,,,,,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,,,,,,,,,,,,	25/341,,25/310,,,25/297,,,,25/340,,25/353,25/315,25/358,25/349	161206281	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161206281C>T	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.75G>A	1.37:g.161206281C>T						TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Silent_p.A25A|NR1I3_uc001fzm.3_Intron|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Silent_p.A25A|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Silent_p.A25A|NR1I3_uc001fzq.3_Silent_p.A25A|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Silent_p.A25A|NR1I3_uc001fzw.3_Silent_p.A25A|NR1I3_uc001fzz.3_Silent_p.A25A|NR1I3_uc001fzh.3_Intron|NR1I3_uc001gab.3_Silent_p.A25A|NR1I3_uc001gac.3_Intron|NR1I3_uc001fzp.3_Silent_p.A25A|NR1I3_uc001fzg.3_Intron|NR1I3_uc001gaa.3_Silent_p.A25A|NR1I3_uc001fzj.3_Intron|NR1I3_uc001fzi.3_Intron|NR1I3_uc001fzl.3_Intron|NR1I3_uc001fzk.3_Intron|NR1I3_uc010pkm.2_Intron|NR1I3_uc010pkn.1_Silent_p.A25A	p.A25A	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	278	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		25					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	c.75G>A	CCDS41430.1																																																																																				0.532	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			T	161206281	C	T	161206281	2	4	1	1	0	0	0	0	0	0	0	1	10621	755	27	1		1	NR1I3	1	161206281	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	7057629	161206281	88044340	3	3											
AGT	183	broad.mit.edu	37	chr1	230846235	230846235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgccccatagctcactgTgcatgccatatatacggaag	11	8	8	14	2	1	0	1	0	0	0	1	1	1	1	4	1	4	2	4	1	5	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:230846235T>A	ENST00000366667.4	-	2	576	c.362A>T	c.(361-363)cAc>cTc	p.H121L	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	121					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAGCTCACTGTGCATGCCATA	0.582																																						uc001hty.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(361-363)cAc>cTc		Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						96	97	97					1																	230846235		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846235T>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.362A>T	1.37:g.230846235T>A	ENSP00000355627:p.His121Leu					AGT_uc009xff.3_Missense_Mutation_p.H93L	p.H121L	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	870	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	121					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.362A>T	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.431270	0.00184	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	T	0.78924	-1.22	5.09	2.7	0.31948	Serpin domain (3);	0.352818	0.26605	N	0.023448	T	0.31638	0.0803	N	0.00104	-2.125	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48340	-0.9044	10	0.02654	T	1	.	6.7825	0.23654	0.4882:0.1252:0.0:0.3865	.	121;121;121	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	L	121	ENSP00000355627:H121L	ENSP00000355627:H121L	H	-	2	0	AGT	228912858	0.036000	0.19791	0.033000	0.17914	0.003000	0.03518	1.911000	0.39937	0.322000	0.23283	-0.669000	0.03829	CAC		0.582	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		A	230846235	T	A	230846235	3	1	1	1	0	0	0	0	1	0	0	0	399	1696	59	5	1111	5	AGT	1	230846235	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	69639954	230846235	18404386	4	4											
C2orf63	130162	broad.mit.edu	37	chr2	55439915	55439915	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttgagattgaatcttCgaggaattactttcgataat	12	17	7	5	2	2	2	0	2	2	1	4	6	2	3	0	1	1	0	0	1	5	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:55439915C>A	ENST00000401408.1	-	5	738	c.393G>T	c.(391-393)tcG>tcT	p.S131S	CLHC1_ENST00000406076.1_Silent_p.S9S|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron|AC012358.7_ENST00000366153.2_RNA|CLHC1_ENST00000407122.1_Silent_p.S131S	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	131																	ATTGAATCTTCGAGGAATTAC	0.338																																						uc002ryi.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(391-393)tcG>tcT		Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.							125	115	118					2																	55439915		2203	4299	6502	SO:0001819	synonymous_variant	130162						binding	g.chr2:55439915C>A		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.393G>T	2.37:g.55439915C>A						C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Silent_p.S9S	p.S131S	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		4	739	-			131					B2RDV1|Q53R93|Q8N403	Silent	SNP	ENST00000401408.1	37	c.393G>T	CCDS33201.1																																																																																				0.338	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		A	55439915	C	A	55439915	2	1	1	1	0	0	0	0	0	0	0	1	2182	871	31	5		5	C2orf63	2	55439915	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		55439915	187759458	5	5											
ALMS1	7840	broad.mit.edu	37	chr2	73680365	73680365	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtaataaataaaccagaAtctgcaggttttagagatgt	15	13	9	4	0	1	2	0	0	1	2	1	3	1	2	1	1	2	4	1	1	7	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:73680365A>G	ENST00000264448.6	+	8	6819	c.6708A>G	c.(6706-6708)gaA>gaG	p.E2236E	ALMS1_ENST00000377715.1_Silent_p.E2236E|ALMS1_ENST00000409009.1_Silent_p.E2194E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2236					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAAACCAGAATCTGCAGGTT	0.363																																						uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(6706-6708)gaA>gaG		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							52	51	52					2																	73680365		1835	4088	5923	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680365A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6708A>G	2.37:g.73680365A>G						ALMS1_uc002sjf.1_Silent_p.E2194E|ALMS1_uc002sjg.3_Silent_p.E1624E|ALMS1_uc002sjh.1_Silent_p.E1624E	p.E2236E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			7	6819	+			2236					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.6708A>G	CCDS42697.1																																																																																				0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73680365	A	G	73680365	2	3	1	1	0	0	0	0	0	0	0	1	535	98	4	4		4	ALMS1	2	73680365	Silent	SNP	A	TCGA-02-0003-01A-01D-1490-08	18240450	73680365	169519008	6	6											
PLCL1	5334	broad.mit.edu	37	chr2	198950756	198950756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgacatcatggagcacGtaaccctttttgtccacata	10	12	9	10	1	1	1	1	1	0	0	2	2	2	2	2	2	2	2	2	2	2	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:198950756G>A	ENST00000428675.1	+	2	2913	c.2515G>A	c.(2515-2517)Gta>Ata	p.V839I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V741I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	839					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.V839I(1)|p.V741I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGGAGCACGTAACCCTTTT	0.453																																						uc010fsp.3																			2	Substitution - Missense(2)	p.V839I(1)|p.V741I(1)	endometrium(2)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2515-2517)Gta>Ata		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						169	141	151					2																	198950756		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950756G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2515G>A	2.37:g.198950756G>A	ENSP00000402861:p.Val839Ile					PLCL1_uc002uuv.4_Missense_Mutation_p.V760I	p.V839I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	2913	+			839					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2515G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168785	0.38315	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.13657	2.57;2.57	5.41	5.41	0.78517	C2 calcium/lipid-binding domain, CaLB (1);	0.103871	0.42548	D	0.000694	T	0.10165	0.0249	N	0.22421	0.69	0.42006	D	0.990917	B;P	0.34909	0.269;0.475	B;B	0.26416	0.043;0.069	T	0.24404	-1.0161	9	.	.	.	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	839;765	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	839;741	ENSP00000402861:V839I;ENSP00000414138:V741I	.	V	+	1	0	PLCL1	198659001	1.000000	0.71417	0.273000	0.24645	0.909000	0.53808	6.234000	0.72326	2.814000	0.96858	0.591000	0.81541	GTA		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		A	198950756	G	A	198950756	3	1	1	1	0	0	0	0	1	0	0	0	12039	1145	40	1	2521	1	PLCL1	2	198950756	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	125270391	198950756	44248617	7	7											
SLC11A1	6556	broad.mit.edu	37	chr2	219255987	219255987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatgaacaacgccaccGtggccgtggacatttaccag	10	7	9	15	3	0	1	0	1	0	0	1	2	1	2	6	2	3	0	6	2	3	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:219255987G>A	ENST00000233202.6	+	10	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	SLC11A1_ENST00000539932.1_Missense_Mutation_p.V223M	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	341					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACGCCACCGTGGCCGTGGA	0.627																																						uc002vhv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1021-1023)Gtg>Atg		Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.							73	61	65					2																	219255987		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219255987G>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1021G>A	2.37:g.219255987G>A	ENSP00000233202:p.Val341Met					SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.3_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.3_Missense_Mutation_p.V136M	p.V341M	NM_000578	NP_000569	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1361	+		Renal(207;0.0474)	341					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.1021G>A	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430936	0.43122	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.23950	2.18;1.88	4.46	4.46	0.54185	.	0.557362	0.17643	N	0.166970	T	0.39963	0.1098	L	0.51422	1.61	0.38701	D	0.952995	D;P;P	0.54047	0.964;0.891;0.763	P;P;P	0.55824	0.671;0.785;0.508	T	0.32107	-0.9919	10	0.52906	T	0.07	-4.0912	15.8561	0.78979	0.0:0.0:1.0:0.0	.	341;223;341	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	M	341;223	ENSP00000233202:V341M;ENSP00000443435:V223M	ENSP00000233202:V341M	V	+	1	0	SLC11A1	218964231	0.999000	0.42202	0.112000	0.21494	0.046000	0.14306	3.435000	0.52849	2.487000	0.83934	0.555000	0.69702	GTG		0.627	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		A	219255987	G	A	219255987	3	1	1	1	0	0	0	0	1	0	0	0	14380	1145	40	1	1059	1	SLC11A1	2	219255987	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	20305231	219255987	23943386	8	8											
OBSL1	23363	broad.mit.edu	37	chr2	220422920	220422920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccaccagccaggatgacaTtgaaggtgatggcctcatgc	11	7	11	12	0	1	3	1	3	0	0	1	4	1	4	4	3	2	0	4	3	1	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:220422920T>C	ENST00000404537.1	-	10	3544	c.3488A>G	c.(3487-3489)aAt>aGt	p.N1163S	OBSL1_ENST00000373876.1_Missense_Mutation_p.N1163S|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.N1163S|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Missense_Mutation_p.N154S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1163	Ig-like 9.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGATGACATTGAAGGTGAT	0.657																																						uc010fwk.3																			0											c.(3487-3489)aAt>aGt		Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.							36	43	41					2																	220422920		2104	4220	6324	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422920T>C	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3488A>G	2.37:g.220422920T>C	ENSP00000385636:p.Asn1163Ser					OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.N1163S	p.N1163S	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	9	3802	-		Renal(207;0.0376)	1163			Ig-like 9.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.3488A>G	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.725|6.725	0.502420|0.502420	0.12822|0.12822	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000456147|ENST00000404537;ENST00000373876;ENST00000265317	.|T;T;T	.|0.04603	.|3.59;3.59;3.59	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Immunoglobulin-like (1);	.|.	.|.	.|.	.|.	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.17345|0.17345	0.48|0.48	0.54753|0.54753	D|D	0.99998|0.99998	.|B;P;P	.|0.37864	.|0.337;0.61;0.61	.|B;B;B	.|0.41764	.|0.148;0.366;0.23	T|T	0.58634|0.58634	-0.7602|-0.7602	5|9	.|0.20046	.|T	.|0.44	.|.	10.4851|10.4851	0.44717|0.44717	0.1449:0.0:0.0:0.8551|0.1449:0.0:0.0:0.8551	.|.	.|1164;1163;154	.|A4KVA4;O75147;E7ER99	.|.;OBSL1_HUMAN;.	V|S	157|1163;1163;154	.|ENSP00000385636:N1163S;ENSP00000362983:N1163S;ENSP00000265317:N154S	.|ENSP00000265317:N154S	M|N	-|-	1|2	0|0	OBSL1|OBSL1	220131164|220131164	0.343000|0.343000	0.24818|0.24818	0.989000|0.989000	0.46669|0.46669	0.765000|0.765000	0.43378|0.43378	1.178000|1.178000	0.31981|0.31981	1.882000|1.882000	0.54519|0.54519	0.260000|0.260000	0.18958|0.18958	ATG|AAT		0.657	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			C	220422920	T	C	220422920	3	2	1	1	0	0	0	0	1	0	0	0	10813	1493	52	4	2273	4	OBSL1	2	220422920	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	1166933	220422920	22776453	9	9											
CLEC3B	7123	broad.mit.edu	37	chr3	45077083	45077083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagacgaagaccttccaCgaggccagcgaggactgcat	12	4	11	14	3	0	2	0	0	0	2	1	6	1	3	4	2	2	1	4	2	1	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:45077083C>T	ENST00000296130.4	+	3	456	c.276C>T	c.(274-276)caC>caT	p.H92H	CLEC3B_ENST00000428034.1_Silent_p.H50H|CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	92	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	AGACCTTCCACGAGGCCAGCG	0.627																																					GBM(139;1487 3263 30871)	uc003cok.4																			0				endometrium(1)|lung(3)	4						c.(274-276)caC>caT		Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						62	56	58					3																	45077083		2203	4300	6503	SO:0001819	synonymous_variant	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077083C>T		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	11891	protein-coding gene	gene with protein product		187520	"tetranectin (plasminogen binding protein)"	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.276C>T	3.37:g.45077083C>T							p.H92H	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	372	+			92			C-type lectin.		Q6FGX6	Silent	SNP	ENST00000296130.4	37	c.276C>T	CCDS2726.1																																																																																				0.627	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		T	45077083	C	T	45077083	2	4	1	1	0	0	0	0	0	0	0	1	3511	535	19	1		1	CLEC3B	3	45077083	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		45077083	152945347	10	10											
NPRL2	10641	broad.mit.edu	37	chr3	50387203	50387203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagaggagagcattgcGgctgtacttcttgtgttcga	8	13	14	6	2	1	3	0	1	1	2	2	5	1	3	0	2	3	5	0	2	2	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:50387203G>A	ENST00000232501.3	-	3	670	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	78	Interaction with PDPK1.				negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGAGCATTGCGGCTGTACTTC	0.547																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(232-234)Cgc>Tgc		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.							129	126	127					3																	50387203		2203	4300	6503	SO:0001583	missense	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50387203G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.232C>T	3.37:g.50387203G>A	ENSP00000232501:p.Arg78Cys					CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.R78C	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			2	635	-			78			Interaction with PDPK1.		A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	ENST00000232501.3	37	c.232C>T	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957981	0.34565	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89357	0.3665	9	0.87932	D	0	-13.4333	19.8575	0.96767	0.0:0.0:1.0:0.0	.	78	Q8WTW4	NPRL2_HUMAN	C	78	.	ENSP00000232501:R78C	R	-	1	0	NPRL2	50362207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.403000	0.59729	2.698000	0.92095	0.561000	0.74099	CGC		0.547	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		A	50387203	G	A	50387203	3	1	1	1	0	0	0	0	1	0	0	0	10597	1116	39	2	946	2	NPRL2	3	50387203	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	5310120	50387203	147635227	11	11											
DZIP1L	199221	broad.mit.edu	37	chr3	137796433	137796433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggggttacgcctcagagCtgccagcaccttgtgctgtt	6	11	13	11	1	1	1	1	0	0	1	1	1	1	1	3	2	5	5	3	2	1	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:137796433C>T	ENST00000327532.2	-	11	1692	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A444T|DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	444					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGCCTCAGAGCTGCCAGCACC	0.537																																						uc003erq.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1330-1332)Gct>Act		Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.							180	149	159					3																	137796433		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137796433C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1330G>A	3.37:g.137796433C>T	ENSP00000332148:p.Ala444Thr					DZIP1L_uc003err.1_Missense_Mutation_p.A444T	p.A444T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			10	1693	-			444					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1330G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199356	0.06219	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.38722	1.12;1.27	5.25	2.41	0.29592	.	0.683951	0.13557	N	0.379100	T	0.33614	0.0869	M	0.63843	1.955	0.09310	N	1	P;P	0.39282	0.465;0.666	B;B	0.33339	0.085;0.162	T	0.11941	-1.0567	10	0.30854	T	0.27	-0.4966	6.8138	0.23819	0.3128:0.6046:0.0:0.0826	.	444;444	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	T	444	ENSP00000332148:A444T;ENSP00000419486:A444T	ENSP00000332148:A444T	A	-	1	0	DZIP1L	139279123	0.135000	0.22499	0.001000	0.08648	0.031000	0.12232	0.355000	0.20163	0.194000	0.20326	0.650000	0.86243	GCT		0.537	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		T	137796433	C	T	137796433	3	4	1	1	0	0	0	0	1	0	0	0	4864	797	28	3	1006	3	DZIP1L	3	137796433	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	87409230	137796433	60225997	12	12											
ANAPC4	29945	broad.mit.edu	37	chr4	25396471	25396471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgaaaaagcttggccaGtctatagagtcatcatactc	12	11	9	9	0	3	2	2	1	1	1	4	2	3	2	1	2	2	2	1	2	5	5			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:25396471G>T	ENST00000315368.3	+	14	1147	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q335H	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGCTTGGCCAGTCTATAGAGT	0.313																																						uc003gro.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(1003-1005)caG>caT		Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.							62	65	64					4																	25396471		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25396471G>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1005G>T	4.37:g.25396471G>T	ENSP00000318775:p.Gln335His					ANAPC4_uc003grp.3_Missense_Mutation_p.Q220H|ANAPC4_uc010ieu.1_Intron|ANAPC4_uc010iet.1_Missense_Mutation_p.Q115H	p.Q335H	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			13	1134	+		Breast(46;0.0503)	335					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.1005G>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112833	0.56398	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32515	1.45;1.45	5.92	1.26	0.21427	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.32530	0.975	0.52501	D	0.999951	D;D	0.76494	0.97;0.999	P;D	0.87578	0.742;0.998	T	0.18241	-1.0343	10	0.66056	D	0.02	-7.684	10.6208	0.45478	0.3743:0.0:0.6257:0.0	.	335;335	E9PCR4;Q9UJX5	.;APC4_HUMAN	H	335	ENSP00000318775:Q335H;ENSP00000426654:Q335H	ENSP00000318775:Q335H	Q	+	3	2	ANAPC4	25005569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.064000	0.30579	0.421000	0.25980	0.650000	0.86243	CAG		0.313	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		T	25396471	G	T	25396471	3	4	1	1	0	0	0	0	1	0	0	0	604	1020	36	5	1055	5	ANAPC4	4	25396471	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		25396471	165757805	13	13											
UGT2B28	54490	broad.mit.edu	37	chr4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccatgggatccctatggTaggcattccattgttttggg	7	14	11	9	0	0	0	0	0	0	0	2	1	2	1	3	4	1	3	3	4	3	7	rs569133364		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:70156391T>C	ENST00000335568.5	+	5	1174	c.1172T>C	c.(1171-1173)gTa>gCa	p.V391A	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	391					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCCCTATGGTAGGCATTCCA	0.448													N|||	1	0.000199681	0	0	5008	,	,		13524	0		0.001	False		,,,				2504	0					uc003hej.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1171-1173)gTa>gCa		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						111	112	112					4																	70156391		2051	4234	6285	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156391T>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1172T>C	4.37:g.70156391T>C	ENSP00000334276:p.Val391Ala					UGT2B28_uc010ihr.3_Intron	p.V391A	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			4	1174	+			391					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1172T>C	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.83	1.460800	0.26248	.	.	ENSG00000135226	ENST00000335568	T	0.69306	-0.39	1.85	1.85	0.25348	.	0.000000	0.64402	U	0.000009	D	0.83626	0.5295	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83665	0.0163	10	0.87932	D	0	.	7.3524	0.26700	0.0:0.0:0.0:1.0	.	391	Q9BY64	UDB28_HUMAN	A	391	ENSP00000334276:V391A	ENSP00000334276:V391A	V	+	2	0	UGT2B28	70190980	1.000000	0.71417	0.240000	0.24138	0.007000	0.05969	6.877000	0.75562	0.846000	0.35142	0.155000	0.16302	GTA		0.448	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		C	70156391	T	C	70156391	3	2	1	1	0	0	0	0	1	0	0	0	16957	1638	57	4	1190	4	UGT2B28	4	70156391	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	44759920	70156391	120997885	14	14											
DNAH5	1767	broad.mit.edu	37	chr5	13727709	13727709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcatttggaagaggttcCtcctccgggttttccttatc	6	15	10	10	1	0	1	0	0	0	1	5	2	4	2	4	4	0	3	4	4	3	6	rs377018163		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:13727709C>T	ENST00000265104.4	-	70	12044	c.11940G>A	c.(11938-11940)gaG>gaA	p.E3980E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3980					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTTCCTCCTCCGGGT	0.413									Kartagener syndrome																													uc003jfd.2																			0		p.E3980K(1)|p.E3979*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11938-11940)gaG>gaA		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	102	104	103		11940	3.9	1	5		103	0,8600		0,0,4300	no	coding-synonymous	DNAH5	NM_001369.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		3980/4625	13727709	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13727709C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11940G>A	5.37:g.13727709C>T						DNAH5_uc003jfc.2_Silent_p.E148E	p.E3980E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			69	11982	-	Lung NSC(4;0.00476)		3980					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11940G>A	CCDS3882.1																																																																																				0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13727709	C	T	13727709	2	4	1	1	0	0	0	0	0	0	0	1	4604	680	24	3		3	DNAH5	5	13727709	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		13727709	167187551	15	15											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(11)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						52	58	56					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1706	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67589138	G	A	67589138	3	1	1	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	53861429	67589138	113326122	16	16											
MTX3	345778	broad.mit.edu	37	chr5	79284349	79284349	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaggagaatcctattcAgtgctcccttagacattctt	9	14	8	10	0	3	2	2	0	1	2	5	3	5	2	2	2	1	1	2	2	3	5			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:79284349A>T	ENST00000512528.1	-	5	460	c.440T>A	c.(439-441)cTg>cAg	p.L147Q	MTX3_ENST00000509852.1_Missense_Mutation_p.L147Q|MTX3_ENST00000512560.1_Missense_Mutation_p.L86Q			Q5HYI7	MTX3_HUMAN	metaxin 3	147					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AATCCTATTCAGTGCTCCCTT	0.463																																						uc010jag.3																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7						c.(439-441)cTg>cAg		Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.							66	61	63					5																	79284349		1898	4113	6011	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79284349A>T	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.440T>A	5.37:g.79284349A>T	ENSP00000424798:p.Leu147Gln					MTX3_uc010jah.3_Missense_Mutation_p.L147Q|MTX3_uc003kge.4_Missense_Mutation_p.L86Q|MTX3_uc003kgf.1_5'Flank	p.L147Q	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	4	467	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	147					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.440T>A		.	.	.	.	.	.	.	.	.	.	A	25.2	4.613403	0.87359	.	.	ENSG00000177034	ENST00000512560;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.51325	0.71;0.75;0.73	5.58	5.58	0.84498	Glutathione S-transferase, C-terminal-like (1);	.	.	.	.	T	0.63082	0.2481	L	0.52905	1.665	0.58432	D	0.999999	D;B	0.76494	0.999;0.242	D;B	0.67548	0.952;0.16	T	0.63139	-0.6704	9	0.46703	T	0.11	.	15.7533	0.78005	1.0:0.0:0.0:0.0	.	147;147	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	Q	86;147;147;147	ENSP00000423600:L86Q;ENSP00000423302:L147Q;ENSP00000424798:L147Q	ENSP00000392181:L147Q	L	-	2	0	MTX3	79320105	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.310000	0.96267	2.123000	0.65237	0.533000	0.62120	CTG		0.463	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		T	79284349	A	T	79284349	3	4	1	1	0	0	0	0	1	0	0	0	9969	188	7	5	518	5	MTX3	5	79284349	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	11695211	79284349	101630911	17	17											
HRH2	3274	broad.mit.edu	37	chr5	175110351	175110351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgctggcaatgtggtcGtctgtctggccgtgggcttg	2	13	16	10	3	2	0	0	0	2	0	3	0	2	0	2	4	1	4	2	4	1	2	rs568716866		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:175110351G>A	ENST00000231683.2	+	1	1888	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	HRH2_ENST00000377291.2_Missense_Mutation_p.V39I	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	39					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CAATGTGGTCGTCTGTCTGGC	0.582																																						uc003mdc.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(115-117)Gtc>Atc		Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						225	195	205					5																	175110351		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110351G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.115G>A	5.37:g.175110351G>A	ENSP00000231683:p.Val39Ile					HRH2_uc003mdd.2_Missense_Mutation_p.V39I	p.V39I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	759	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	39					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.115G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113917	0.77210	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.83335	-1.71;-1.71	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.93131	0.6533	10	0.87932	D	0	.	18.0413	0.89319	0.0:0.0:1.0:0.0	.	39;39	P25021;Q7Z5R9	HRH2_HUMAN;.	I	39	ENSP00000366506:V39I;ENSP00000231683:V39I	ENSP00000231683:V39I	V	+	1	0	HRH2	175042957	1.000000	0.71417	0.958000	0.39756	0.281000	0.26958	9.765000	0.98953	2.519000	0.84933	0.462000	0.41574	GTC		0.582	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			A	175110351	G	A	175110351	3	1	1	1	0	0	0	0	1	0	0	0	7356	1145	40	1	117	1	HRH2	5	175110351	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	95826002	175110351	5804909	18	18											
KIAA0319	9856	broad.mit.edu	37	chr6	24556864	24556864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctccatcccagatataaCgctgtataaggttctccatc	10	13	5	13	1	2	1	0	0	2	1	7	1	4	1	3	1	1	3	3	1	4	5	rs137950263		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:24556864C>T	ENST00000378214.3	-	18	3352	c.2828G>A	c.(2827-2829)cGt>cAt	p.R943H	KIAA0319_ENST00000537886.1_Missense_Mutation_p.R943H|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R934H|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R943H|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R898H	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	943					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCAGATATAACGCTGTATAAG	0.488																																						uc011djo.2																			0		p.R943C(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2827-2829)cGt>cAt		Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	85	88		2801,2828,2693,2828,2828	2.2	0	6	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	934/1064,943/1073,898/1028,943/1012,943/1073	24556864	1,13005	2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24556864C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2828G>A	6.37:g.24556864C>T	ENSP00000367459:p.Arg943His					KIAA0319_uc011djp.2_Missense_Mutation_p.R898H|KIAA0319_uc003neh.1_Missense_Mutation_p.R943H|KIAA0319_uc011djq.1_Missense_Mutation_p.R934H|KIAA0319_uc011djr.1_Missense_Mutation_p.R943H|KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	p.R943H	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN			17	3328	-			943					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2828G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627717	0.46944	2.27E-4	0.0	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07216	3.21;3.22;3.22;3.22;3.22	4.02	2.22	0.28083	.	0.391742	0.26293	N	0.025201	T	0.10680	0.0261	M	0.63428	1.95	0.22446	N	0.999094	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.66196	0.916;0.942;0.877	T	0.04650	-1.0936	10	0.66056	D	0.02	-1.4766	9.7419	0.40424	0.0:0.8304:0.0:0.1696	.	943;934;943	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	H	943;934;898;943;943	ENSP00000439700:R943H;ENSP00000442403:R934H;ENSP00000401086:R898H;ENSP00000367459:R943H;ENSP00000437656:R943H	ENSP00000367459:R943H	R	-	2	0	KIAA0319	24664843	0.523000	0.26274	0.003000	0.11579	0.791000	0.44710	0.617000	0.24359	0.460000	0.27045	0.555000	0.69702	CGT		0.488	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24556864	C	T	24556864	3	4	1	1	0	0	0	0	1	0	0	0	8168	536	19	1	406	1	KIAA0319	6	24556864	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		24556864	146558203	19	19											
SLC39A7	7922	broad.mit.edu	37	chr6	33170112	33170112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcttgtcgtggagaaatTtgtgagacatgtgaaaggag	11	13	13	4	1	1	3	0	2	1	2	2	6	1	4	0	2	0	0	0	2	2	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:33170112T>C	ENST00000374677.3	+	4	1080	c.707T>C	c.(706-708)tTt>tCt	p.F236S	RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Missense_Mutation_p.F236S|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	236					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGGAGAAATTTGTGAGACAT	0.507																																						uc003odf.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(706-708)tTt>tCt		Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.							128	134	132					6																	33170112		1314	2598	3912	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170112T>C	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.707T>C	6.37:g.33170112T>C	ENSP00000363809:p.Phe236Ser					RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.F236S|SLC39A7_uc011dqv.2_Missense_Mutation_p.F111S|HSD17B8_uc003odi.1_5'Flank	p.F236S	NM_001077516	NP_008910	Q92504	S39A7_HUMAN			4	824	+			236					B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.707T>C	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090683	0.55968	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T;T	0.51817	0.69;0.69;0.69	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	M	0.66939	2.045	0.58432	D	0.999999	B;B	0.16603	0.018;0.018	B;B	0.18263	0.011;0.021	T	0.30179	-0.9987	10	0.44086	T	0.13	1.6883	12.4357	0.55598	0.0:0.0:0.0:1.0	.	217;236	B4DVK8;Q92504	.;S39A7_HUMAN	S	146;236;217;141;236	ENSP00000400978:F146S;ENSP00000363807:F236S;ENSP00000363809:F236S	ENSP00000363807:F236S	F	+	2	0	SLC39A7	33278090	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.095000	0.57728	2.043000	0.60533	0.448000	0.29417	TTT		0.507	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		C	33170112	T	C	33170112	3	2	1	1	0	0	0	0	1	0	0	0	14623	1841	64	4	721	4	SLC39A7	6	33170112	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	8613248	33170112	137944955	20	20											
EPHA7	2045	broad.mit.edu	37	chr6	94120845	94120845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcacacctggtatgttCgtatcggggtatagttctca	7	14	11	9	2	1	0	1	0	1	0	4	0	1	0	1	4	0	6	1	4	4	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:94120845C>T	ENST00000369303.4	-	3	390	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	EPHA7_ENST00000369297.1_Missense_Mutation_p.R69Q	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R69Q(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGTATGTTCGTATCGGGGT	0.393																																						uc003poe.3																			1	Substitution - Missense(1)	p.R69Q(2)|p.R69*(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(205-207)cGa>cAa		Homo sapiens EPH receptor A7 (EPHA7), mRNA.							102	107	105					6																	94120845		2193	4294	6487	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120845C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.206G>A	6.37:g.94120845C>T	ENSP00000358309:p.Arg69Gln					EPHA7_uc003pof.3_Missense_Mutation_p.R69Q|EPHA7_uc011eac.2_Missense_Mutation_p.R69Q|EPHA7_uc003pog.4_Missense_Mutation_p.R69Q	p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	2	447	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	69					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.206G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267511	0.95399	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.12361	2.69;2.69	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.947;0.997;0.999;1.0	T	0.50389	-0.8834	10	0.72032	D	0.01	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	69;69;69;69	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	Q	69	ENSP00000358309:R69Q;ENSP00000358303:R69Q	ENSP00000358303:R69Q	R	-	2	0	EPHA7	94177566	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	CGA		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			T	94120845	C	T	94120845	3	4	1	1	0	0	0	0	1	0	0	0	5172	884	31	2	2850	2	EPHA7	6	94120845	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	60950733	94120845	76994222	21	21											
SHPRH	257218	broad.mit.edu	37	chr6	146269445	146269445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtagagtttcagaccctCagatgtaacaatctctcgcc	12	11	7	11	1	3	3	2	0	1	3	5	3	3	3	2	0	1	3	2	0	4	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:146269445C>T	ENST00000367505.2	-	5	1288	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E342K|SHPRH_ENST00000367503.3_Missense_Mutation_p.E342K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E342K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	342	Helicase ATP-binding; first part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCAGACCCTCAGATGTAACA	0.308																																						uc003qlf.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1024-1026)Gag>Aag		Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.							74	72	72					6																	146269445		1793	4060	5853	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146269445C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1024G>A	6.37:g.146269445C>T	ENSP00000356475:p.Glu342Lys					SHPRH_uc003qle.3_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K	p.E342K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	4	1423	-		Ovarian(120;0.0365)	342			Helicase ATP-binding; first part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1024G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763452	0.49574	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74315	-0.83;-0.83;-0.82;-0.83	5.93	5.93	0.95920	DEAD-like helicase (1);SNF2-related (1);	0.422777	0.24424	N	0.038657	T	0.61211	0.2329	L	0.47716	1.5	0.35187	D	0.772983	P;P;P;P	0.43094	0.493;0.608;0.554;0.799	B;B;B;B	0.37731	0.178;0.257;0.116;0.217	T	0.69628	-0.5094	10	0.54805	T	0.06	-13.1225	18.5344	0.91004	0.0:1.0:0.0:0.0	.	231;342;342;231	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	K	342;342;342;342;231	ENSP00000356475:E342K;ENSP00000356473:E342K;ENSP00000412797:E342K;ENSP00000275233:E342K	ENSP00000275233:E342K	E	-	1	0	SHPRH	146311138	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	5.516000	0.67055	2.826000	0.97356	0.655000	0.94253	GAG		0.308	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146269445	C	T	146269445	3	4	1	1	0	0	0	0	1	0	0	0	14291	835	29	3	4175	3	SHPRH	6	146269445	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	52148600	146269445	24845622	22	22											
ELMO1	9844	broad.mit.edu	37	chr7	37251095	37251095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcatcaaaagcaattcttcGaagttcaaatatgatgtccc	15	11	6	9	1	3	1	2	1	1	0	5	2	4	1	1	0	2	3	1	0	6	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:37251095G>C	ENST00000310758.4	-	13	1629	c.982C>G	c.(982-984)Cga>Gga	p.R328G	ELMO1_ENST00000442504.1_Missense_Mutation_p.R328G|ELMO1_ENST00000448602.1_Missense_Mutation_p.R328G	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	328	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAATTCTTCGAAGTTCAAAT	0.428																																						uc022abv.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(982-984)Cga>Gga		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							127	105	113					7																	37251095		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37251095G>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.982C>G	7.37:g.37251095G>C	ENSP00000312185:p.Arg328Gly					ELMO1_uc011kbc.2_Missense_Mutation_p.R232G|ELMO1_uc003tfk.2_Missense_Mutation_p.R328G|ELMO1_uc010kxg.2_Missense_Mutation_p.R328G	p.R328G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			12	1692	-			328			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.982C>G	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.01|19.01	3.744084|3.744084	0.69418|0.69418	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|T;T;T;T	.|0.31769	.|1.48;1.48;1.48;1.48	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Engulfment/cell motility, ELMO (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.55289|0.55289	0.1911|0.1911	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.52675|0.52675	-0.8544|-0.8544	5|10	.|0.35671	.|T	.|0.21	.|.	14.6007|14.6007	0.68438|0.68438	0.0:0.0:0.7903:0.2097|0.0:0.0:0.7903:0.2097	.|.	.|328	.|Q92556	.|ELMO1_HUMAN	L|G	107|328;232;328;328;69	.|ENSP00000312185:R328G;ENSP00000406952:R328G;ENSP00000394458:R328G;ENSP00000395933:R69G	.|ENSP00000312185:R328G	F|R	-|-	3|1	2|2	ELMO1|ELMO1	37217620|37217620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.286000|3.286000	0.51724|0.51724	2.652000|2.652000	0.90054|0.90054	0.491000|0.491000	0.48974|0.48974	TTC|CGA		0.428	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		C	37251095	G	C	37251095	3	2	1	1	0	0	0	0	1	0	0	0	5065	1066	37	5	1241	5	ELMO1	7	37251095	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		37251095	121887568	23	23											
EGFR	1956	broad.mit.edu	37	chr7	55233109	55233109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccatgtgtgccacctgtGccatccaaactgcacctacg	8	8	9	16	2	0	0	0	0	0	0	1	0	1	0	6	1	5	1	6	1	2	1	rs150899403		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:55233109G>A	ENST00000275493.2	+	15	2036	c.1859G>A	c.(1858-1860)tGc>tAc	p.C620Y	EGFR_ENST00000454757.2_Missense_Mutation_p.C567Y|EGFR_ENST00000342916.3_Missense_Mutation_p.C620Y|EGFR_ENST00000442591.1_Missense_Mutation_p.C620Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C575Y|EGFR_ENST00000344576.2_Missense_Mutation_p.C620Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	620					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.C620Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCACCTGTGCCATCCAAAC	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.C620Y(2)|p.C620W(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1858-1860)tGc>tAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68	62	64					7																	55233109		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233109G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1859G>A	7.37:g.55233109G>A	ENSP00000275493:p.Cys620Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.C620Y|EGFR_uc003tqj.3_Missense_Mutation_p.C620Y|EGFR_uc022adm.1_Missense_Mutation_p.C620Y|EGFR_uc010kzg.2_Missense_Mutation_p.C575Y|EGFR_uc022adn.1_Missense_Mutation_p.C575Y|EGFR_uc011kco.2_Missense_Mutation_p.C567Y|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.C620Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2105	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		620					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1859G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462363	0.84425	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	H	0.97874	4.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.995;1.0;1.0	D	0.91652	0.5335	10	0.87932	D	0	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	575;620;620;620	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	Y	575;620;490;620;620;620;567;414	ENSP00000415559:C575Y;ENSP00000342376:C620Y;ENSP00000345973:C620Y;ENSP00000275493:C620Y;ENSP00000410031:C620Y;ENSP00000395243:C567Y	ENSP00000275493:C620Y	C	+	2	0	EGFR	55200603	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.765000	0.98953	2.785000	0.95823	0.655000	0.94253	TGC		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55233109	G	A	55233109	3	1	1	1	0	0	0	0	1	0	0	0	4967	1319	46	3	1928	3	EGFR	7	55233109	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	17982014	55233109	103905554	24	24											
ZNF680	340252	broad.mit.edu	37	chr7	64004766	64004766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaggcattgccactcCtccagagagaattctatggc	9	10	10	12	0	1	2	0	0	1	2	4	3	4	2	4	2	1	1	4	2	2	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:64004766C>T	ENST00000309683.6	-	2	226	c.75G>A	c.(73-75)gaG>gaA	p.E25E	ZNF680_ENST00000476563.1_Intron|ZNF680_ENST00000447137.2_Silent_p.E25E	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E25D(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATTGCCACTCCTCCAGAGAGA	0.423																																						uc003tta.2																			1	Substitution - Missense(1)	p.E25D(2)	lung(1)	breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(73-75)gaG>gaA		Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.							130	135	133					7																	64004766		2203	4300	6503	SO:0001819	synonymous_variant	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004766C>T	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.75G>A	7.37:g.64004766C>T						ZNF680_uc003ttb.2_Silent_p.E25E	p.E25E	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			1	248	-		Lung NSC(55;0.118)|all_lung(88;0.243)	25			KRAB.		B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	ENST00000309683.6	37	c.75G>A	CCDS34644.1																																																																																				0.423	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		T	64004766	C	T	64004766	2	4	1	1	0	0	0	0	0	0	0	1	18084	680	24	3		3	ZNF680	7	64004766	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	8771657	64004766	95133897	25	25											
AUTS2	26053	broad.mit.edu	37	chr7	70255710	70255710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacgcggctccactccGtgcaccccgcctccctcgac	6	5	8	22	5	0	0	0	0	0	0	4	1	3	0	6	1	2	3	6	1	0	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:70255710G>A	ENST00000342771.4	+	19	3829	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	AUTS2_ENST00000406775.2_Missense_Mutation_p.V1146M	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1170	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCTCCACTCCGTGCACCCCGC	0.697																																						uc003tvw.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3508-3510)Gtg>Atg		Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.																																				SO:0001583	missense	26053							g.chr7:70255710G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3508G>A	7.37:g.70255710G>A	ENSP00000344087:p.Val1170Met					AUTS2_uc003tvx.4_Missense_Mutation_p.V1146M|AUTS2_uc011keg.2_Missense_Mutation_p.V622M	p.V1170M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	18	4243	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1170			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3508G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200604	0.22121	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.28255	1.63;1.62	5.15	3.18	0.36537	.	0.289600	0.37669	N	0.001997	T	0.15132	0.0365	N	0.22421	0.69	0.80722	D	1	P;P;P	0.43314	0.601;0.803;0.803	B;B;B	0.29598	0.043;0.104;0.104	T	0.06427	-1.0827	9	.	.	.	-14.0998	11.3592	0.49633	0.0:0.1371:0.7206:0.1423	.	622;1146;1170	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	M	1146;1170	ENSP00000385263:V1146M;ENSP00000344087:V1170M	.	V	+	1	0	AUTS2	69893646	0.999000	0.42202	0.279000	0.24732	0.959000	0.62525	3.086000	0.50159	1.144000	0.42321	0.655000	0.94253	GTG		0.697	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70255710	G	A	70255710	3	1	1	1	0	0	0	0	1	0	0	0	1225	1145	40	1	3727	1	AUTS2	7	70255710	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	6250944	70255710	88882953	26	26											
MUC17	140453	broad.mit.edu	37	chr7	100677039	100677039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacacatatcaccacttCtactgaagccagttgctctc	12	10	5	14	0	3	1	1	1	2	0	4	1	3	1	2	0	4	3	2	0	4	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:100677039C>T	ENST00000306151.4	+	3	2406	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	781	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCACCACTTCTACTGAAGCC	0.458																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2341-2343)tCt>tTt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							270	274	273					7																	100677039		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677039C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2342C>T	7.37:g.100677039C>T	ENSP00000302716:p.Ser781Phe					MUC17_uc010lho.1_Non-coding_Transcript	p.S781F	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	2395	+	Lung NSC(181;0.136)|all_lung(186;0.182)		781			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2342C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.889	-0.456062	0.04540	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.932	0.932	0.19466	.	.	.	.	.	T	0.03390	0.0098	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	P	0.47162	0.54	T	0.49224	-0.8962	9	0.49607	T	0.09	.	7.8581	0.29493	0.0:1.0:0.0:0.0	.	781	Q685J3	MUC17_HUMAN	F	781	ENSP00000302716:S781F	ENSP00000302716:S781F	S	+	2	0	MUC17	100463759	0.000000	0.05858	0.005000	0.12908	0.020000	0.10135	-0.724000	0.04947	0.857000	0.35407	0.134000	0.15878	TCT		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677039	C	T	100677039	3	4	1	1	0	0	0	0	1	0	0	0	9974	913	32	3	2352	3	MUC17	7	100677039	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	30421329	100677039	58461624	27	27											
SLC26A3	1811	broad.mit.edu	37	chr7	107431527	107431527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcactgtgactgatgccGccgccgccaccctcaccctc	8	6	8	19	3	1	2	1	2	0	0	2	2	1	2	6	0	2	1	6	0	1	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:107431527G>A	ENST00000340010.5	-	5	720	c.536C>T	c.(535-537)gCg>gTg	p.A179V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A144V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	179					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GACTGATGCCGCCGCCGCCAC	0.483																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(535-537)gCg>gTg		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							88	77	80					7																	107431527		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107431527G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.536C>T	7.37:g.107431527G>A	ENSP00000345873:p.Ala179Val					SLC26A3_uc003ves.2_Missense_Mutation_p.A144V	p.A179V	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	747	-			179						Missense_Mutation	SNP	ENST00000340010.5	37	c.536C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498981	0.85069	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94723	-3.47;-3.5	5.69	4.8	0.61643	.	.	.	.	.	D	0.94398	0.8198	N	0.22421	0.69	0.35961	D	0.834612	D;D	0.76494	0.999;0.998	D;P	0.67103	0.949;0.887	D	0.95924	0.8933	9	0.39692	T	0.17	.	16.5531	0.84477	0.0:0.1306:0.8694:0.0	.	144;179	G5E9U3;P40879	.;S26A3_HUMAN	V	144;179	ENSP00000415817:A144V;ENSP00000345873:A179V	ENSP00000345873:A179V	A	-	2	0	SLC26A3	107218763	1.000000	0.71417	0.767000	0.31495	0.007000	0.05969	8.527000	0.90594	1.380000	0.46344	0.591000	0.81541	GCG		0.483	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		A	107431527	G	A	107431527	3	1	1	1	0	0	0	0	1	0	0	0	14518	1087	38	1	1826	1	SLC26A3	7	107431527	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	6754488	107431527	51707136	28	28											
POTEA	340441	broad.mit.edu	37	chr8	43147808	43147808	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagccaaggtatcacGtccgtcgagaagatctgggc	10	7	13	11	4	3	2	2	0	1	2	5	4	4	3	2	3	1	1	2	3	3	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:43147808G>A	ENST00000522175.2	+	0	183							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGGTATCACGTCCGTCGAGA	0.602																																						uc003xpz.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(181-183)Gtc>Atc		Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.							60	65	63					8																	43147808		2203	4300	6503			340441							g.chr8:43147808G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147808G>A						POTEA_uc003xqa.1_Missense_Mutation_p.V61I	p.V61I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			0	224	+			61					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.181G>A																																																																																					0.602	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		A	43147808	G	A	43147808	1	1	1	0	1	0	0	0	0	0	0	0	12261	1145	40	1		1	POTEA	8	43147808	RNA	SNP	G	TCGA-02-0003-01A-01D-1490-08		43147808	103216214	29	29											
UBR5	51366	broad.mit.edu	37	chr8	103282370	103282370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccttcagaggctggtCtaaagggcctagtgtcgatg	8	11	13	9	1	2	1	1	0	1	1	4	3	3	1	2	3	0	1	2	3	3	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:103282370C>A	ENST00000520539.1	-	50	7733	c.7127G>T	c.(7126-7128)aGa>aTa	p.R2376I	UBR5_ENST00000220959.4_Missense_Mutation_p.R2376I|UBR5_ENST00000518205.1_Missense_Mutation_p.R105I|UBR5_ENST00000521922.1_Missense_Mutation_p.R2370I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2376					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGAGGCTGGTCTAAAGGGCCT	0.438																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(7126-7128)aGa>aTa		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							136	127	130					8																	103282370		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103282370C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7127G>T	8.37:g.103282370C>A	ENSP00000429084:p.Arg2376Ile					UBR5_uc003yks.2_Missense_Mutation_p.R2376I|UBR5_uc003ykq.3_5'Flank	p.R2376I	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		49	7582	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2376					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.7127G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462057	0.63513	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.32	5.32	0.75619	Polyadenylate-binding protein/Hyperplastic disc protein (1);HECT (1);	0.051045	0.85682	D	0.000000	T	0.32675	0.0837	N	0.08118	0	0.80722	D	1	B;B	0.28258	0.205;0.205	B;B	0.37239	0.191;0.244	T	0.19877	-1.0292	10	0.36615	T	0.2	.	19.3665	0.94464	0.0:1.0:0.0:0.0	.	2370;2376	E7EMW7;O95071	.;UBR5_HUMAN	I	2376;2376;105;2370	ENSP00000429084:R2376I;ENSP00000220959:R2376I;ENSP00000428693:R105I;ENSP00000427819:R2370I	ENSP00000220959:R2376I	R	-	2	0	UBR5	103351546	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.361000	0.79497	2.625000	0.88918	0.655000	0.94253	AGA		0.438	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		A	103282370	C	A	103282370	3	1	1	1	0	0	0	0	1	0	0	0	16902	913	32	5	1312	5	UBR5	8	103282370	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	60134562	103282370	43081652	30	30											
KIAA0020	9933	broad.mit.edu	37	chr9	2811564	2811564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggagctcccgtctgcGgacctctgtatctttcttac	5	15	8	13	2	5	0	0	0	5	0	6	2	6	2	2	2	3	2	2	2	3	5			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:2811564G>A	ENST00000397885.2	-	15	1638	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	478	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCCCGTCTGCGGACCTCTGTA	0.433																																						uc003zhp.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(1432-1434)Cgc>Tgc		Homo sapiens KIAA0020 (KIAA0020), mRNA.							84	84	84					9																	2811564		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2811564G>A	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1432C>T	9.37:g.2811564G>A	ENSP00000380982:p.Arg478Cys					KIAA0020_uc003zhq.1_Missense_Mutation_p.R477C	p.R478C	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	14	1528	-			478			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.1432C>T	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475723	0.84640	.	.	ENSG00000080608	ENST00000397885	T	0.69435	-0.4	5.97	5.97	0.96955	CPL (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.76574	2.34	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.63283	0.913;0.913	T	0.82430	-0.0461	10	0.87932	D	0	-18.9313	20.4387	0.99107	0.0:0.0:1.0:0.0	.	338;478	B2RDG4;Q15397	.;K0020_HUMAN	C	478	ENSP00000380982:R478C	ENSP00000380982:R478C	R	-	1	0	KIAA0020	2801564	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	5.550000	0.67268	2.836000	0.97738	0.655000	0.94253	CGC		0.433	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		A	2811564	G	A	2811564	3	1	1	1	0	0	0	0	1	0	0	0	8152	1116	39	2	530	2	KIAA0020	9	2811564	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		2811564	138401867	31	31											
KIF27	55582	broad.mit.edu	37	chr9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctctaattcttggcGttggttcagaactttctcta	7	16	7	11	1	4	1	1	0	3	1	6	1	5	1	1	2	2	3	1	2	3	7	rs3199677		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:86482718G>A	ENST00000297814.2	-	13	2958	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R873C|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	939					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R939C(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373													G|||	1	0.000199681	0	0	5008	,	,		14448	0		0.001	False		,,,				2504	0					uc004ana.3																			1	Substitution - Missense(1)	p.R939C(2)	large_intestine(1)	breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(2815-2817)Cgc>Tgc		Homo sapiens kinesin family member 27 (KIF27), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	106	107		2815	4.2	1	9	dbSNP_105	107	0,8600		0,0,4300	no	missense	KIF27	NM_017576.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	939/1402	86482718	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86482718G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2815C>T	9.37:g.86482718G>A	ENSP00000297814:p.Arg939Cys					KIF27_uc010mpw.3_Missense_Mutation_p.R873C|KIF27_uc010mpx.3_Intron	p.R939C	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			12	2959	-			939					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.2815C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134716	0.56828	2.27E-4	0.0	ENSG00000165115	ENST00000297814;ENST00000413982	T;T	0.35973	1.28;1.28	4.22	4.22	0.49857	.	0.332899	0.20410	U	0.092866	T	0.53061	0.1773	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.826	T	0.57568	-0.7789	10	0.72032	D	0.01	.	11.951	0.52954	0.0:0.0:0.8265:0.1735	.	873;939	Q86VH2-2;Q86VH2	.;KIF27_HUMAN	C	939;873	ENSP00000297814:R939C;ENSP00000401688:R873C	ENSP00000297814:R939C	R	-	1	0	KIF27	85672538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	2.166000	0.68216	0.484000	0.47621	CGC		0.373	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86482718	G	A	86482718	3	1	1	1	0	0	0	0	1	0	0	0	8296	1145	40	1	1414	1	KIF27	9	86482718	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	83671154	86482718	54730713	32	32											
TACC2	10579	broad.mit.edu	37	chr10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaagcagcaggacaCgcccggaagccctgaccaca	16	1	11	13	2	0	1	0	1	0	0	0	4	0	4	3	3	3	2	3	3	4	0	rs540521848		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:123810032C>T	ENST00000369005.1	+	3	453	c.113C>T	c.(112-114)aCg>aTg	p.T38M	TACC2_ENST00000513429.1_Missense_Mutation_p.T38M|TACC2_ENST00000334433.3_Missense_Mutation_p.T38M|TACC2_ENST00000358010.1_Missense_Mutation_p.T38M|TACC2_ENST00000515603.1_Missense_Mutation_p.T38M|TACC2_ENST00000453444.2_Missense_Mutation_p.T38M|TACC2_ENST00000515273.1_Missense_Mutation_p.T38M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	38					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.T38M(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCAGGACACGCCCGGAAGC	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		16991	0		0	False		,,,				2504	0					uc001lfv.3																			1	Substitution - Missense(1)	p.T38M(2)	kidney(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(112-114)aCg>aTg		Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.							48	50	49					10																	123810032		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123810032C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.113C>T	10.37:g.123810032C>T	ENSP00000358001:p.Thr38Met					TACC2_uc001lfw.3_Missense_Mutation_p.T38M|TACC2_uc009xzx.3_Missense_Mutation_p.T38M|TACC2_uc010qtv.2_Missense_Mutation_p.T38M	p.T38M	NM_206862	NP_996744	O95359	TACC2_HUMAN			2	473	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	38					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.113C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999316	0.35226	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076	T;T;T;T;T;T;T	0.56444	0.46;0.46;4.05;4.05;0.46;0.46;4.05	4.39	1.01	0.19927	.	.	.	.	.	T	0.27027	0.0662	N	0.14661	0.345	0.09310	N	1	P;P;B;P	0.45715	0.865;0.865;0.434;0.865	B;B;B;B	0.32805	0.153;0.153;0.055;0.153	T	0.10474	-1.0628	9	0.59425	D	0.04	2.2023	6.1553	0.20334	0.2884:0.5869:0.0:0.1246	.	38;38;38;38	E9PBC6;E7EMZ9;O95359-5;O95359	.;.;.;TACC2_HUMAN	M	38;38;38;38;38;38;38;28	ENSP00000358001:T38M;ENSP00000425062:T38M;ENSP00000424467:T38M;ENSP00000427618:T38M;ENSP00000334280:T38M;ENSP00000350701:T38M;ENSP00000395048:T38M	ENSP00000334280:T38M	T	+	2	0	TACC2	123800022	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	0.086000	0.14935	0.096000	0.17463	0.655000	0.94253	ACG		0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123810032	C	T	123810032	3	4	1	1	0	0	0	0	1	0	0	0	15499	536	19	1	119	1	TACC2	10	123810032	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		123810032	11724715	33	33											
JAKMIP3	282973	broad.mit.edu	37	chr10	133967449	133967449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaagggctacctggaCgaggagctggactaccggaa	13	4	15	9	2	0	1	0	0	0	1	0	6	0	5	2	5	4	3	2	5	5	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:133967449C>T	ENST00000298622.4	+	18	2307	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	723						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTACCTGGACGAGGAGCTGG	0.632																																						uc001lkx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2167-2169)gaC>gaT		Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.							86	74	78					10																	133967449		2202	4298	6500	SO:0001819	synonymous_variant	282973							g.chr10:133967449C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2169C>T	10.37:g.133967449C>T						JAKMIP3_uc009yba.1_Silent_p.D160D	p.D723D	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	17	2169	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2169C>T	CCDS44494.1																																																																																				0.632	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133967449	C	T	133967449	2	4	1	1	0	0	0	0	0	0	0	1	7942	535	19	1		1	JAKMIP3	10	133967449	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	10157417	133967449	1567298	34	34											
NAALAD2	10003	broad.mit.edu	37	chr11	89868837	89868837	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaacatcaaatcatttcttCggtaagtttattttacgtat	14	17	4	6	2	3	0	2	0	1	0	4	0	3	0	0	1	2	3	0	1	7	8			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:89868837C>T	ENST00000534061.1	+	2	423	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NAALAD2_ENST00000375944.3_Splice_Site_p.R65C|NAALAD2_ENST00000525171.1_Splice_Site_p.R65C|NAALAD2_ENST00000321955.4_Splice_Site_p.R65C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	65					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348																																						uc001pdf.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.e2+1		Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.							85	87	87					11																	89868837		2201	4299	6500	SO:0001630	splice_region_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868837C>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.194+1C>T	11.37:g.89868837C>T						NAALAD2_uc009yvx.3_Splice_Site_p.R65_splice|NAALAD2_uc009yvy.3_Splice_Site_p.R65_splice|NAALAD2_uc001pdd.2_Splice_Site_p.R65_splice|NAALAD2_uc001pde.3_Splice_Site_p.R65_splice	p.R65_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			2	303	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	65					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.194_splice	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626242	0.66901	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.50001	0.76;0.96;0.96;0.96;0.96;0.96	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.98;0.98;0.965;0.997;0.98	T	0.74372	-0.3687	9	.	.	.	-6.1181	11.0386	0.47816	0.0:0.9137:0.0:0.0863	.	65;65;65;65;65	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	65;65;65;65;65;11	ENSP00000431989:R65C;ENSP00000432481:R65C;ENSP00000320083:R65C;ENSP00000435249:R65C;ENSP00000365111:R65C;ENSP00000435670:R11C	.	R	+	1	0	NAALAD2	89508485	0.998000	0.40836	1.000000	0.80357	0.783000	0.44284	1.650000	0.37292	1.425000	0.47237	0.644000	0.83932	CGT		0.348	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	Missense_Mutation	T	89868837	C	T	89868837	5	4	1	1	0	0	0	0	0	0	1	0	10128	898	31	2	199	2	NAALAD2	11	89868837	Splice_Site	SNP	C	TCGA-02-0003-01A-01D-1490-08		89868837	45137679	35	35											
FAT3	120114	broad.mit.edu	37	chr11	92570936	92570936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgaatgacaacagcccGgtgtttacacctgccaacta	12	9	9	11	1	0	2	0	2	0	0	0	3	0	2	3	1	5	1	3	1	5	3	rs374103134		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:92570936G>A	ENST00000298047.6	+	16	10349	c.10332G>A	c.(10330-10332)ccG>ccA	p.P3444P	FAT3_ENST00000525166.1_Silent_p.P3294P|FAT3_ENST00000409404.2_Silent_p.P3444P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3444	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACAGCCCGGTGTTTACAC	0.468										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10330-10332)ccG>ccA		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.		G		0,3958		0,0,1979	110	109	109		10332	-9.4	0	11		109	1,8325		0,1,4162	no	coding-synonymous	FAT3	NM_001008781.2		0,1,6141	AA,AG,GG		0.012,0.0,0.0081		3444/4558	92570936	1,12283	1979	4163	6142	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92570936G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10332G>A	11.37:g.92570936G>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.4_5'Flank	p.P3444P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			15	10349	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3444			Cadherin 31.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10332G>A																																																																																					0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92570936	G	A	92570936	2	1	1	1	0	0	0	0	0	0	0	1	5691	1103	39	2		2	FAT3	11	92570936	Silent	SNP	G	TCGA-02-0003-01A-01D-1490-08	2702099	92570936	42435580	36	36											
PANX3	116337	broad.mit.edu	37	chr11	124489539	124489539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctcacacggctatgtcGgtgggacaaacgacttttat	11	10	9	11	3	1	0	1	0	0	0	2	2	1	1	1	3	2	1	1	3	4	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:124489539G>A	ENST00000284288.2	+	4	954	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	296					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.R296Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CGGCTATGTCGGTGGGACAAA	0.438																																						uc001qah.3																			1	Substitution - Missense(1)	p.R296Q(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(886-888)cGg>cAg		Homo sapiens pannexin 3 (PANX3), mRNA.							135	123	127					11																	124489539		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489539G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.887G>A	11.37:g.124489539G>A	ENSP00000284288:p.Arg296Gln						p.R296Q	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	3	887	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	296						Missense_Mutation	SNP	ENST00000284288.2	37	c.887G>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444340	0.25987	.	.	ENSG00000154143	ENST00000284288	T	0.18502	2.21	5.5	-3.23	0.05109	.	0.770378	0.13027	N	0.419623	T	0.09379	0.0231	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.26408	T	0.33	-1.8354	7.9855	0.30210	0.5823:0.1149:0.3028:0.0	.	296	Q96QZ0	PANX3_HUMAN	Q	296	ENSP00000284288:R296Q	ENSP00000284288:R296Q	R	+	2	0	PANX3	123994749	0.429000	0.25530	0.523000	0.27875	0.925000	0.55904	0.663000	0.25053	-0.465000	0.06953	-0.258000	0.10820	CGG		0.438	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			A	124489539	G	A	124489539	3	1	1	1	0	0	0	0	1	0	0	0	11422	1116	39	2	901	2	PANX3	11	124489539	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	31918603	124489539	10516977	37	37											
SLC2A14	144195	broad.mit.edu	37	chr12	7980269	7980269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggtgccccacaacCgctggaggactggtgaaaag	10	6	13	12	1	0	1	0	1	0	0	1	3	1	3	4	4	2	1	4	4	3	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:7980269C>T	ENST00000543909.1	-	12	1514	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229Q|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143Q|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229Q|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267Q			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	252					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.R252Q(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCCCACAACCGCTGGAGGAC	0.502																																						uc010sgh.2																			1	Substitution - Missense(1)	p.R252Q(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(799-801)cGg>cAg		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.							20	23	22					12																	7980269		2194	4280	6474	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7980269C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.755G>A	12.37:g.7980269C>T	ENSP00000440480:p.Arg252Gln					SLC2A14_uc001qtk.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qtl.3_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.3_Missense_Mutation_p.R229Q|SLC2A14_uc010sgg.2_Missense_Mutation_p.R143Q|SLC2A14_uc001qtn.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.3_Intron	p.R267Q	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	5	821	-			252					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.800G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308556	0.23821	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	3.58	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.530384	0.19316	N	0.117273	T	0.62768	0.2455	L	0.55213	1.73	0.09310	N	1	P;B;B;P	0.41265	0.525;0.25;0.214;0.744	B;B;B;B	0.37387	0.177;0.127;0.083;0.248	T	0.56123	-0.8031	10	0.48119	T	0.1	.	7.8681	0.29549	0.0:0.4195:0.0:0.5805	.	267;143;229;252	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	Q	229;252;229;252;143;143;267	ENSP00000340450:R229Q;ENSP00000440480:R252Q;ENSP00000407287:R229Q;ENSP00000379834:R252Q;ENSP00000440492:R143Q;ENSP00000443903:R143Q;ENSP00000445929:R267Q	ENSP00000340450:R229Q	R	-	2	0	SLC2A14	7871536	0.000000	0.05858	0.078000	0.20375	0.791000	0.44710	0.006000	0.13152	-0.226000	0.09899	-0.482000	0.04802	CGG		0.502	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		T	7980269	C	T	7980269	3	4	1	1	0	0	0	0	1	0	0	0	14543	652	23	2	827	2	SLC2A14	12	7980269	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		7980269	125871626	38	38											
SLC2A3	6515	broad.mit.edu	37	chr12	8082458	8082458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggtgccccacaacCgctggaggactggtgaaaag	10	6	13	12	1	0	1	0	1	0	0	1	3	1	3	4	4	2	1	4	4	3	0	rs200481428		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:8082458C>T	ENST00000075120.7	-	6	923	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	228					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.R228Q(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCCCACAACCGCTGGAGGAC	0.493													C|||	1	0.000199681	0	0	5008	,	,		-128	0		0.001	False		,,,				2504	0				Colon(96;424 1461 14416 20933 23688)	uc001qtr.3																			1	Substitution - Missense(1)	p.R228Q(2)	central_nervous_system(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(682-684)cGg>cAg		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.							91	90	90					12																	8082458		2203	4298	6501	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082458C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.683G>A	12.37:g.8082458C>T	ENSP00000075120:p.Arg228Gln						p.R228Q	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	945	-			228					B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.683G>A	CCDS8586.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.35	2.210549	0.39102	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.75477	-0.94	4.34	-0.968	0.10313	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.432149	0.23492	N	0.047591	T	0.63988	0.2558	L	0.51914	1.62	0.36509	D	0.869492	B	0.26041	0.14	B	0.27608	0.081	T	0.59247	-0.7490	10	0.52906	T	0.07	.	8.5241	0.33293	0.0:0.321:0.0:0.679	.	228	P11169	GTR3_HUMAN	Q	228;154	ENSP00000075120:R228Q	ENSP00000075120:R228Q	R	-	2	0	SLC2A3	7973725	0.001000	0.12720	0.015000	0.15790	0.875000	0.50365	0.062000	0.14389	-0.071000	0.12886	-0.481000	0.04817	CGG		0.493	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8082458	C	T	8082458	3	4	1	1	0	0	0	0	1	0	0	0	14545	652	23	2	827	2	SLC2A3	12	8082458	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	102189	8082458	125769437	39	39											
MTERFD3	80298	broad.mit.edu	37	chr12	107371855	107371855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataaatgggttttggcttAacaattttagtagccaaact	15	14	7	5	0	0	0	0	0	0	0	0	0	0	0	1	2	3	3	1	2	8	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:107371855A>G	ENST00000552029.1	-	2	2706	c.638T>C	c.(637-639)tTa>tCa	p.L213S	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L213S|MTERFD3_ENST00000392830.2_Missense_Mutation_p.L213S			Q49AM1	MTEF2_HUMAN		213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTTTTGGCTTAACAATTTTAG	0.383																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(637-639)tTa>tCa		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.							44	49	47					12																	107371855		2202	4300	6502	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371855A>G																												ENST00000552029.1:c.638T>C	12.37:g.107371855A>G	ENSP00000447651:p.Leu213Ser					MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc021rdh.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	p.L213S	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			1	2457	-			213					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.638T>C	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064342	0.76187	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.11930	2.73;2.73;2.73	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.69823	2.125	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.13202	-1.0518	10	0.66056	D	0.02	-11.5554	16.1777	0.81874	1.0:0.0:0.0:0.0	.	213	Q49AM1	MTER3_HUMAN	S	213	ENSP00000376575:L213S;ENSP00000240050:L213S;ENSP00000447651:L213S	ENSP00000240050:L213S	L	-	2	0	MTERFD3	105895985	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.962000	0.93254	2.222000	0.72286	0.383000	0.25322	TTA		0.383	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			G	107371855	A	G	107371855	3	3	1	1	0	0	0	0	1	0	0	0	9921	372	13	4	523	4	MTERFD3	12	107371855	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	99289397	107371855	26480040	40	40											
BTBD11	121551	broad.mit.edu	37	chr12	108012011	108012011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggaggagattctggccGaggggactgacctggcggag	7	6	18	10	2	1	2	0	1	1	1	1	7	1	5	3	7	0	0	3	7	0	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:108012011G>A	ENST00000280758.5	+	10	2836	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.E307K|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.E770K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	770						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GATTCTGGCCGAGGGGACTGA	0.607																																						uc001tmk.1																			0		p.A769T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2308-2310)Gag>Aag		Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.							59	60	59					12																	108012011		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108012011G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2308G>A	12.37:g.108012011G>A	ENSP00000280758:p.Glu770Lys					BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	p.E770K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			9	2829	+			770					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2308G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482330	0.96307	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.45668	1.02;1.03;0.89	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.79123	2.44	0.80722	D	1	P;D;D	0.89917	0.725;1.0;1.0	B;D;D	0.79108	0.058;0.981;0.992	T	0.72246	-0.4349	10	0.87932	D	0	.	18.4067	0.90539	0.0:0.0:1.0:0.0	.	307;770;770	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	770;770;307	ENSP00000280758:E770K;ENSP00000447319:E770K;ENSP00000349690:E307K	ENSP00000280758:E770K	E	+	1	0	BTBD11	106536141	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	9.813000	0.99286	2.406000	0.81754	0.563000	0.77884	GAG		0.607	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	108012011	G	A	108012011	3	1	1	1	0	0	0	0	1	0	0	0	1539	1059	37	2	2451	2	BTBD11	12	108012011	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	640156	108012011	25839884	41	41											
MYH6	4624	broad.mit.edu	37	chr14	23858709	23858709	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttcctctagctgccGggccaactctcctggaggtg	4	12	10	15	1	2	0	0	0	2	0	5	1	4	1	5	3	3	1	5	3	2	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:23858709G>T	ENST00000356287.3	-	27	3900	c.3871C>A	c.(3871-3873)Cgg>Agg	p.R1291R	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Silent_p.R1291R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1291					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTAGCTGCCGGGCCAACTCT	0.582																																						uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3871-3873)Cgg>Agg		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.							60	62	61					14																	23858709		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858709G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3871C>A	14.37:g.23858709G>T						MIR208A_uc010tnn.2_5'Flank	p.R1291R	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	27	3942	-	all_cancers(95;2.54e-05)		1291					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.3871C>A	CCDS9600.1																																																																																				0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23858709	G	T	23858709	2	4	1	1	0	0	0	0	0	0	0	1	10038	1115	39	5		5	MYH6	14	23858709	Silent	SNP	G	TCGA-02-0003-01A-01D-1490-08		23858709	83490831	42	42											
AKAP6	9472	broad.mit.edu	37	chr14	33290999	33290999	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaagagtctcagtaaagActcttcattttcatctacca	14	13	4	10	0	5	2	3	0	3	2	6	2	5	2	1	0	2	1	1	0	5	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:33290999A>G	ENST00000280979.4	+	13	4150	c.3980A>G	c.(3979-3981)gAc>gGc	p.D1327G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1327					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCAGTAAAGACTCTTCATTT	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.3																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3979-3981)gAc>gGc		Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.							52	52	52					14																	33290999		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290999A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3980A>G	14.37:g.33290999A>G	ENSP00000280979:p.Asp1327Gly						p.D1327G	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	12	4150	+	Breast(36;0.0388)|Prostate(35;0.15)		1327					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3980A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959536	0.53400	.	.	ENSG00000151320	ENST00000280979	T	0.09538	2.97	5.79	5.79	0.91817	.	0.053507	0.64402	D	0.000001	T	0.29256	0.0728	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00849	-1.1541	10	0.87932	D	0	-14.7864	14.7021	0.69162	1.0:0.0:0.0:0.0	.	1327	Q13023	AKAP6_HUMAN	G	1327	ENSP00000280979:D1327G	ENSP00000280979:D1327G	D	+	2	0	AKAP6	32360750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	2.208000	0.71279	0.460000	0.39030	GAC		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		G	33290999	A	G	33290999	3	3	1	1	0	0	0	0	1	0	0	0	455	275	10	4	4026	4	AKAP6	14	33290999	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	9432290	33290999	74058541	43	43											
EML1	2009	broad.mit.edu	37	chr14	100363606	100363606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaactgcagaggcattacGctggccacaacgatgacgtg	12	6	12	11	3	0	2	0	1	0	1	0	3	0	2	1	2	5	4	1	2	3	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:100363606G>A	ENST00000262233.6	+	7	941	c.802G>A	c.(802-804)Gct>Act	p.A268T	EML1_ENST00000334192.4_Missense_Mutation_p.A287T|EML1_ENST00000327921.9_Missense_Mutation_p.A256T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	268	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAGGCATTACGCTGGCCACAA	0.542																																						uc001ygr.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(859-861)Gct>Act		Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.							130	100	111					14																	100363606		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363606G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.802G>A	14.37:g.100363606G>A	ENSP00000262233:p.Ala268Thr					EML1_uc010avt.1_Missense_Mutation_p.A255T|EML1_uc010tww.2_Missense_Mutation_p.A256T|EML1_uc001ygq.3_Missense_Mutation_p.A287T|EML1_uc001ygs.3_Missense_Mutation_p.A268T	p.A287T	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN			7	928	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	268					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.859G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743426	0.30865	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.58652	0.32;1.09;1.09;1.09;5.1	5.3	0.768	0.18487	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.193636	0.53938	N	0.000048	T	0.18841	0.0452	N	0.00690	-1.25	0.31962	N	0.608249	B;B;B;B;B	0.09022	0.001;0.001;0.0;0.002;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.06917	-1.0800	10	0.34782	T	0.22	-8.352	2.9032	0.05712	0.5015:0.0:0.2908:0.2077	.	256;256;268;287;287	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	T	255;256;268;287;287;237	ENSP00000451346:A255T;ENSP00000327384:A256T;ENSP00000262233:A268T;ENSP00000334314:A287T;ENSP00000452089:A237T	ENSP00000262233:A268T	A	+	1	0	EML1	99433359	0.023000	0.18921	0.065000	0.19835	0.366000	0.29705	0.882000	0.28186	0.232000	0.21100	0.655000	0.94253	GCT		0.542	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100363606	G	A	100363606	3	1	1	1	0	0	0	0	1	0	0	0	5096	1087	38	1	889	1	EML1	14	100363606	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	67072607	100363606	6985934	44	44											
WDR72	256764	broad.mit.edu	37	chr15	53998200	53998200	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcctgagacttctccAgagaaaagtaccttgtaaaa	14	12	6	9	0	2	2	0	1	2	2	4	4	3	2	3	0	1	2	3	0	5	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr15:53998200A>T	ENST00000396328.1	-	10	1265	c.1026T>A	c.(1024-1026)tcT>tcA	p.S342S	WDR72_ENST00000360509.5_Silent_p.S342S|WDR72_ENST00000559418.1_Silent_p.S352S|WDR72_ENST00000557913.1_Silent_p.S339S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	342										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGACTTCTCCAGAGAAAAGTA	0.403																																						uc002acj.2																			0		p.F341L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1024-1026)tcT>tcA		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							105	106	106					15																	53998200		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998200A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1026T>A	15.37:g.53998200A>T						WDR72_uc010bfi.1_Silent_p.S342S	p.S342S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	9	1068	-			342					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1026T>A	CCDS10151.1																																																																																				0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53998200	A	T	53998200	2	4	1	1	0	0	0	0	0	0	0	1	17319	175	7	5		5	WDR72	15	53998200	Silent	SNP	A	TCGA-02-0003-01A-01D-1490-08		53998200	48533192	45	45											
GNPTG	84572	broad.mit.edu	37	chr16	1412529	1412529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggccgatgagctgatcacCccccaggtaagcgtgcgctc	7	7	12	15	3	1	2	1	2	0	0	2	3	1	2	4	2	3	3	4	2	1	1	rs146171435	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1412529C>T	ENST00000204679.4	+	8	646	c.603C>T	c.(601-603)acC>acT	p.T201T	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	201					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGCTGATCACCCCCCAGGTAA	0.667													C|||	6	0.00119808	0.0045	0	5008	,	,		15632	0		0	False		,,,				2504	0					uc002clm.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(601-603)acC>acT		Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.		C		4,4394	6.2+/-15.9	0,4,2195	38	42	41		603	-10.5	0	16	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	GNPTG	NM_032520.4		0,4,6495	TT,TC,CC		0.0,0.091,0.0308		201/306	1412529	4,12994	2199	4300	6499	SO:0001819	synonymous_variant	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412529C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.603C>T	16.37:g.1412529C>T							p.T201T	NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN			7	670	+		Hepatocellular(780;0.0893)	201					B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	c.603C>T	CCDS10436.1																																																																																				0.667	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		T	1412529	C	T	1412529	2	4	1	1	0	0	0	0	0	0	0	1	6546	610	22	3		3	GNPTG	16	1412529	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		1412529	88942224	46	46											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1815961	1815961	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgtccctctccccagCggccagcgacagcgactacc	6	4	11	20	5	1	0	0	0	1	0	3	2	2	0	6	2	4	0	6	2	1	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1815961C>T	ENST00000250894.4	+	21	2601	c.2444C>T	c.(2443-2445)gCg>gTg	p.A815V	MAPK8IP3_ENST00000356010.5_Splice_Site_p.A809V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	815					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTCTCCCCAGCGGCCAGCGAC	0.687																																						uc010uvl.2																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.e21-1		Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.							16	22	20					16																	1815961		2006	4152	6158	SO:0001630	splice_region_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1815961C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2444-1C>T	16.37:g.1815961C>T						MAPK8IP3_uc002cmk.3_Splice_Site_p.A815_splice|MAPK8IP3_uc002cml.3_Splice_Site_p.A805_splice|MAPK8IP3_uc021tah.1_Splice_Site_p.A809_splice	p.A816_splice	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			21	2567	+			815					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2447_splice	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877517	0.72294	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.32023	1.47;1.47	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.993;0.998;0.999	P;P;D	0.81914	0.728;0.781;0.995	T	0.49606	-0.8922	9	.	.	.	.	17.8726	0.88815	0.0:1.0:0.0:0.0	.	816;809;815	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	V	815;809	ENSP00000250894:A815V;ENSP00000348290:A809V	.	A	+	2	0	MAPK8IP3	1755962	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.188000	0.77739	2.330000	0.79161	0.561000	0.74099	GCG		0.687	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	Missense_Mutation	T	1815961	C	T	1815961	5	4	1	1	0	0	0	0	0	0	1	0	9286	782	27	1	2542	1	MAPK8IP3	16	1815961	Splice_Site	SNP	C	TCGA-02-0003-01A-01D-1490-08	403432	1815961	88538792	47	47											
SPATA22	84690	broad.mit.edu	37	chr17	3366028	3366028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgttttcattacaggaGccaactctggattcacagct	10	12	7	12	0	3	0	2	0	1	0	3	2	3	2	2	2	4	2	2	2	2	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:3366028G>A	ENST00000573128.1	-	4	689	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SPATA22_ENST00000355380.4_Missense_Mutation_p.A26V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A69V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A69V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A53V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A69V|SPATA22_ENST00000268981.5_Missense_Mutation_p.A69V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	69					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CATTACAGGAGCCAACTCTGG	0.348																																						uc002fvm.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(205-207)gCt>gTt		Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.							117	121	120					17																	3366028		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3366028G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.206C>T	17.37:g.3366028G>A	ENSP00000459580:p.Ala69Val					SPATA22_uc010vrg.2_Missense_Mutation_p.A53V|SPATA22_uc010vrf.2_Missense_Mutation_p.A69V|SPATA22_uc002fvo.3_Missense_Mutation_p.A69V|SPATA22_uc002fvn.3_Missense_Mutation_p.A69V|SPATA22_uc002fvp.3_Missense_Mutation_p.A69V|SPATA22_uc010ckf.3_Missense_Mutation_p.A26V	p.A69V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			3	444	-			69					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.206C>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	12.14	1.848993	0.32699	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.21031	2.03;2.13;2.06;2.05	4.92	4.92	0.64577	.	0.295815	0.24585	N	0.037273	T	0.12305	0.0299	N	0.19112	0.55	0.29403	N	0.861789	B;P;B;B	0.40731	0.253;0.728;0.253;0.253	B;B;B;B	0.33690	0.087;0.168;0.087;0.087	T	0.07770	-1.0755	10	0.44086	T	0.13	-22.9901	11.5588	0.50764	0.0:0.0:0.8213:0.1787	.	53;69;26;69	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	V	26;69;69;53	ENSP00000347541:A26V;ENSP00000380354:A69V;ENSP00000268981:A69V;ENSP00000441920:A53V	ENSP00000268981:A69V	A	-	2	0	SPATA22	3312778	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	3.066000	0.50002	2.660000	0.90430	0.591000	0.81541	GCT		0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		A	3366028	G	A	3366028	3	1	1	1	0	0	0	0	1	0	0	0	15007	971	34	3	909	3	SPATA22	17	3366028	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		3366028	77829182	48	48											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	1	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	4211066	7577094	73618116	49	49											
TP53	7157	broad.mit.edu	37	chr17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatctgagcagcgctcatgGtgggggcagcgcctcacaac	8	7	13	13	2	3	1	2	1	1	0	3	1	3	1	1	3	4	3	1	3	2	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7578396G>T	ENST00000269305.4	-	5	723	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_ENST00000420246.2_Missense_Mutation_p.H178Q|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H178Q|TP53_ENST00000455263.2_Missense_Mutation_p.H178Q|TP53_ENST00000413465.2_Missense_Mutation_p.H178Q|TP53_ENST00000445888.2_Missense_Mutation_p.H178Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178fs*3(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCGCTCATGGTGGGGGCAGC	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		71	Deletion - In frame(26)|Deletion - Frameshift(18)|Substitution - Missense(13)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	p.P177L(17)|p.P177_C182delPHHERC(16)|p.P177R(16)|p.H178fs*69(15)|p.H178Q(10)|p.P177P(10)|p.H179Y(8)|p.H178Y(8)|p.0?(8)|p.P177S(8)|p.H178fs*3(7)|p.C176_R181delCPHHER(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178D(5)|p.P177fs*3(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.R174fs*24(3)|p.P177H(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.R175_H178>X(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.H178del(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.P177_C182del(1)|p.P177fs*4(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1)	large_intestine(17)|upper_aerodigestive_tract(12)|skin(8)|breast(8)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|ovary(3)|lung(2)|pancreas(2)|stomach(1)|thymus(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(532-534)caC>caA	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							47	48	47					17																	7578396		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578396G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.534C>A	17.37:g.7578396G>T	ENSP00000269305:p.His178Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.3_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.2_Missense_Mutation_p.H139Q	p.H178Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	728	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.534C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143016	0.77888	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.59	1.36	0.22044	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050213	0.85682	D	0.000000	D	0.99504	0.9823	M	0.69248	2.105	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.975;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.973;0.999;0.808;0.997;1.0;1.0;0.999	D	0.99425	1.0934	10	0.87932	D	0	-32.3354	5.932	0.19144	0.2114:0.0:0.6512:0.1374	.	139;178;178;85;178;178;178	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	178;178;178;178;178;178;167;85;46;85;46	ENSP00000410739:H178Q;ENSP00000352610:H178Q;ENSP00000269305:H178Q;ENSP00000398846:H178Q;ENSP00000391127:H178Q;ENSP00000391478:H178Q;ENSP00000425104:H46Q;ENSP00000423862:H85Q	ENSP00000269305:H178Q	H	-	3	2	TP53	7519121	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	4.023000	0.57211	0.113000	0.18004	-0.140000	0.14226	CAC		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578396	G	T	7578396	3	4	1	1	0	0	0	0	1	0	0	0	16378	1252	44	5	764	5	TP53	17	7578396	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	1302	7578396	73616814	50	50											
HOXB1	3211	broad.mit.edu	37	chr17	46607715	46607715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgggtttctcttaacCttcatccagtcgaaggtccg	6	14	11	10	2	2	0	1	0	1	0	6	1	4	0	3	3	1	1	3	3	2	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:46607715C>A	ENST00000239174.6	-	1	644	c.552G>T	c.(550-552)aaG>aaT	p.K184N	HOXB1_ENST00000577092.1_Missense_Mutation_p.K184N	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	184					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCTCTTAACCTTCATCCAGT	0.592																																						uc002ink.1																			0		p.M183I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(550-552)aaG>aaT		Homo sapiens homeobox B1 (HOXB1), mRNA.							55	51	52					17																	46607715		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607715C>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.552G>T	17.37:g.46607715C>A	ENSP00000355140:p.Lys184Asn					HOXB1_uc021tzf.1_Missense_Mutation_p.K184N	p.K184N	NM_002144	NP_002135	P14653	HXB1_HUMAN			0	558	-			184					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.552G>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654409	0.47467	.	.	ENSG00000120094	ENST00000239174	D	0.91407	-2.84	4.34	2.35	0.29111	Homeodomain-related (1);	0.000000	0.47852	D	0.000203	D	0.93216	0.7839	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91581	0.5279	10	0.87932	D	0	.	7.4472	0.27217	0.0:0.6479:0.0:0.3521	.	184	P14653	HXB1_HUMAN	N	184	ENSP00000355140:K184N	ENSP00000355140:K184N	K	-	3	2	HOXB1	43962714	0.970000	0.33590	1.000000	0.80357	0.992000	0.81027	0.099000	0.15210	0.486000	0.27676	-0.140000	0.14226	AAG		0.592	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			A	46607715	C	A	46607715	3	1	1	1	0	0	0	0	1	0	0	0	7299	680	24	5	361	5	HOXB1	17	46607715	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	39029319	46607715	34587495	51	51											
FUT5	2527	broad.mit.edu	37	chr19	5867712	5867712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggcgccacagccactgtgGcttggctgggcccaggggat	5	6	17	13	2	0	0	0	0	0	0	0	1	0	1	3	6	1	2	3	6	0	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:5867712G>T	ENST00000586349.1	-	4	419	c.420C>A	c.(418-420)agC>agA	p.S140R	FUT5_ENST00000588525.1_Missense_Mutation_p.P9T|FUT5_ENST00000252675.5_Missense_Mutation_p.P9T																							AGCCACTGTGGCTTGGCTGGG	0.607																																						uc002mdo.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(25-27)Cca>Aca		Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.							23	26	25					19																	5867712		2181	4245	6426	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867712G>T																												ENST00000586349.1:c.420C>A	19.37:g.5867712G>T	ENSP00000466639:p.Ser140Arg					FUT5_uc010duo.3_Missense_Mutation_p.P9T|FUT5_uc021uno.1_Missense_Mutation_p.P9T	p.P9T	NM_002034	NP_002025	Q11128	FUT5_HUMAN			1	196	-			9						Missense_Mutation	SNP	ENST00000586349.1	37	c.25C>A		.	.	.	.	.	.	.	.	.	.	G	4.242	0.043945	0.08196	.	.	ENSG00000130383	ENST00000252675	T	0.27104	1.69	2.18	-4.37	0.03633	.	5.638230	0.00918	U	0.002542	T	0.19765	0.0475	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14364	-1.0475	10	0.31617	T	0.26	.	4.7274	0.12948	0.0:0.369:0.4197:0.2112	.	9	Q11128	FUT5_HUMAN	T	9	ENSP00000252675:P9T	ENSP00000252675:P9T	P	-	1	0	FUT5	5818712	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.113000	0.03296	-0.834000	0.04239	0.407000	0.27541	CCA		0.607	AC024592.12-002	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000452249.1			T	5867712	G	T	5867712	3	4	1	1	0	0	0	0	1	0	0	0	6107	1203	42	5	1103	5	FUT5	19	5867712	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		5867712	53261271	52	52											
ILF3	3609	broad.mit.edu	37	chr19	10789305	10789305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaaacgctatcagtcaaCgaccccccggacgttctgga	12	7	9	13	4	3	1	2	0	1	1	3	4	3	3	3	2	2	2	3	2	4	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:10789305C>T	ENST00000590261.1	+	5	576	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_ENST00000407004.3_Silent_p.N192N|ILF3_ENST00000250241.8_Silent_p.N192N|ILF3_ENST00000318511.3_Silent_p.N192N|ILF3_ENST00000420083.1_Silent_p.N192N|ILF3_ENST00000592763.1_Silent_p.N192N|ILF3_ENST00000589998.1_Silent_p.N192N|ILF3_ENST00000449870.1_Silent_p.N192N|ILF3_ENST00000588657.1_Silent_p.N192N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	192	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502																																						uc002mpn.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(574-576)aaC>aaT		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.							96	84	88					19																	10789305		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10789305C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.576C>T	19.37:g.10789305C>T						ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpo.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	p.N192N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		5	893	+			192			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.576C>T	CCDS12246.1																																																																																				0.502	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			T	10789305	C	T	10789305	2	4	1	1	0	0	0	0	0	0	0	1	7712	535	19	1		1	ILF3	19	10789305	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	4921593	10789305	48339678	53	53											
PODNL1	79883	broad.mit.edu	37	chr19	14046616	14046616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccgcgacacggagggaccGgggcagaaactgaggggcca	11	2	17	11	4	0	2	0	1	0	1	1	5	1	4	3	6	1	1	3	6	1	0	rs142083249		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:14046616G>A	ENST00000339560.5	-	5	706	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000538371.2_Missense_Mutation_p.R143W|PODNL1_ENST00000254320.3_Missense_Mutation_p.R63W	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	145	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGGAGGGACCGGGGCAGAAAC	0.657																																						uc002mxr.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(433-435)Cgg>Tgg		Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.			TRP/ARG,,TRP/ARG	0,4406		0,0,2203	22	24	23		427,,433	3.9	1	19	dbSNP_134	23	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	101,,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	143/511,,145/513	14046616	1,13005	2203	4300	6503	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14046616G>A	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.433C>T	19.37:g.14046616G>A	ENSP00000345175:p.Arg145Trp					PODNL1_uc010xni.2_Missense_Mutation_p.R63W|PODNL1_uc010xnj.2_Missense_Mutation_p.R143W|PODNL1_uc002mxs.3_Intron	p.R145W	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		4	707	-			145			Leu-rich.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.433C>T	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630682	0.46944	0.0	1.16E-4	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.42131	1.78;5.44;0.98	4.97	3.88	0.44766	.	0.424716	0.20098	N	0.099290	T	0.59059	0.2166	M	0.73962	2.25	0.27102	N	0.962594	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.74023	0.96;0.982;0.889	T	0.50866	-0.8777	10	0.40728	T	0.16	.	8.1201	0.30965	0.0:0.1744:0.6454:0.1802	.	143;63;145	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	W	143;145;63	ENSP00000442553:R143W;ENSP00000345175:R145W;ENSP00000254320:R63W	ENSP00000254320:R63W	R	-	1	2	PODNL1	13907616	0.051000	0.20477	0.995000	0.50966	0.151000	0.21798	1.779000	0.38624	1.014000	0.39417	0.479000	0.44913	CGG		0.657	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		A	14046616	G	A	14046616	3	1	1	1	0	0	0	0	1	0	0	0	12179	1115	39	2	1121	2	PODNL1	19	14046616	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	3257311	14046616	45082367	54	54											
NLRP5	126206	broad.mit.edu	37	chr19	56538455	56538455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacggtggttctgcacGgaaagtcaggaattgggaaa	11	8	14	8	3	2	0	1	0	1	0	3	3	2	3	0	5	1	3	0	5	3	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56538455G>A	ENST00000390649.3	+	7	856	c.856G>A	c.(856-858)Gga>Aga	p.G286R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	286	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTCTGCACGGAAAGTCAGG	0.547																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(856-858)Gga>Aga		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							48	51	50					19																	56538455		2071	4198	6269	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538455G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.856G>A	19.37:g.56538455G>A	ENSP00000375063:p.Gly286Arg					NLRP5_uc002qmi.3_Missense_Mutation_p.G267R	p.G286R	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	856	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	286			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.856G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572317	0.45798	.	.	ENSG00000171487	ENST00000390649	D	0.99113	-5.44	3.35	1.21	0.21127	NACHT nucleoside triphosphatase (1);	0.000000	0.36234	N	0.002701	D	0.99127	0.9699	M	0.90977	3.165	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96038	0.9022	10	0.87932	D	0	.	5.521	0.16933	0.2589:0.0:0.7411:0.0	.	286	P59047	NALP5_HUMAN	R	286	ENSP00000375063:G286R	ENSP00000375063:G286R	G	+	1	0	NLRP5	61230267	1.000000	0.71417	0.002000	0.10522	0.005000	0.04900	4.063000	0.57499	0.422000	0.26005	0.655000	0.94253	GGA		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56538455	G	A	56538455	3	1	1	1	0	0	0	0	1	0	0	0	10480	1117	39	2	882	2	NLRP5	19	56538455	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	42491839	56538455	2590528	55	55											
ZNF583	147949	broad.mit.edu	37	chr19	56934399	56934399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagaagactgtcaaagTgaggactggtataagaacca	16	8	12	5	0	1	5	1	2	0	3	1	7	1	6	1	2	1	1	1	2	5	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56934399T>G	ENST00000333201.9	+	5	582	c.372T>G	c.(370-372)agT>agG	p.S124R	ZNF583_ENST00000291598.7_Missense_Mutation_p.S124R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ACTGTCAAAGTGAGGACTGGT	0.383																																						uc010ygl.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(370-372)agT>agG		Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.							87	86	86					19																	56934399		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56934399T>G	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.372T>G	19.37:g.56934399T>G	ENSP00000388502:p.Ser124Arg					ZNF583_uc002qnc.2_Missense_Mutation_p.S124R|ZNF583_uc010ygm.1_Missense_Mutation_p.S124R	p.S124R	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	4	537	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	124					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.372T>G	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	T	5.049	0.194781	0.09599	.	.	ENSG00000198440	ENST00000537943;ENST00000291598;ENST00000333201;ENST00000391778	T;T;T;T	0.11604	5.98;2.76;2.76;6.08	4.55	-9.09	0.00717	.	0.537139	0.17123	N	0.186126	T	0.05777	0.0151	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.18710	T	0.47	.	11.454	0.50169	0.0:0.5968:0.1152:0.288	.	124	Q96ND8	ZN583_HUMAN	R	124	ENSP00000444291:S124R;ENSP00000291598:S124R;ENSP00000388502:S124R;ENSP00000375657:S124R	ENSP00000291598:S124R	S	+	3	2	ZNF583	61626211	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.487000	0.00454	-2.431000	0.00556	0.379000	0.24179	AGT		0.383	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		G	56934399	T	G	56934399	3	3	1	1	0	0	0	0	1	0	0	0	18012	1693	59	5	386	5	ZNF583	19	56934399	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	395944	56934399	2194584	56	56											
TSHZ2	128553	broad.mit.edu	37	chr20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccagcgtgtccaggCgctacctgtttgagaacagc	8	8	13	12	2	1	1	1	1	0	1	2	2	2	1	3	2	5	2	3	2	2	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512																																						uc002xwo.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2263-2265)Cgc>Tgc		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							93	90	91					20																	51872260		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872260C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2263C>T	20.37:g.51872260C>T	ENSP00000360552:p.Arg755Cys					TSHZ2_uc021wex.1_Missense_Mutation_p.R752C	p.R755C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	3150	+			755					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2263C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992826	0.35131	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.50277	0.75;0.75	5.23	5.23	0.72850	.	0.475787	0.23196	N	0.050846	T	0.43144	0.1234	M	0.68317	2.08	0.34997	D	0.755567	P	0.49358	0.923	B	0.34452	0.183	T	0.65709	-0.6102	10	0.87932	D	0	-5.9641	13.7395	0.62838	0.1538:0.8461:0.0:0.0	.	755	Q9NRE2	TSH2_HUMAN	C	755;752;281	ENSP00000360552:R755C;ENSP00000333114:R752C	ENSP00000333114:R752C	R	+	1	0	TSHZ2	51305667	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.499000	0.53310	2.438000	0.82558	0.579000	0.79373	CGC		0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51872260	C	T	51872260	3	4	1	1	0	0	0	0	1	0	0	0	16621	768	27	1	2269	1	TSHZ2	20	51872260	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		51872260	11153260	57	57											
FAM83F	113828	broad.mit.edu	37	chr22	40417570	40417570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaacagcgggaggcgggCggcaacccggaggggcagga	9	0	21	11	5	0	0	0	0	0	0	0	3	0	3	1	9	3	3	1	9	2	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:40417570C>T	ENST00000333407.6	+	4	1150	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	FAM83F_ENST00000473717.1_Silent_p.G184G	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	352										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGGAGGCGGGCGGCAACCCGG	0.687																																						uc003ayk.1																			0		p.A351T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(1054-1056)ggC>ggT		Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.							17	18	18					22																	40417570		2195	4284	6479	SO:0001819	synonymous_variant	113828							g.chr22:40417570C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1056C>T	22.37:g.40417570C>T							p.G352G	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			3	1150	+			352					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.1056C>T	CCDS14000.2																																																																																				0.687	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		T	40417570	C	T	40417570	2	4	1	1	0	0	0	0	0	0	0	1	5638	755	27	1		1	FAM83F	22	40417570	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		40417570	10886996	58	58											
PKDREJ	10343	broad.mit.edu	37	chr22	46656782	46656782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagaatattagacaaaCtcattagtattccagtactc	15	15	4	7	0	1	2	1	0	0	2	3	2	2	2	1	0	2	2	1	0	8	8			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:46656782C>A	ENST00000253255.5	-	1	2437	c.2438G>T	c.(2437-2439)aGt>aTt	p.S813I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	813	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTAGACAAACTCATTAGTAT	0.348																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(2437-2439)aGt>aTt		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							67	72	70					22																	46656782		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46656782C>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2438G>T	22.37:g.46656782C>A	ENSP00000253255:p.Ser813Ile						p.S813I	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	2438	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	813			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.2438G>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338889	0.24253	.	.	ENSG00000130943	ENST00000253255	T	0.49432	0.78	5.31	0.558	0.17266	Egg jelly receptor, REJ-like (1);	0.448765	0.22800	N	0.055481	T	0.37652	0.1011	L	0.53249	1.67	0.09310	N	1	B	0.24721	0.11	B	0.19148	0.024	T	0.22556	-1.0213	10	0.26408	T	0.33	-6.2907	10.4171	0.44329	0.1597:0.4594:0.3809:0.0	.	813	Q9NTG1	PKDRE_HUMAN	I	813	ENSP00000253255:S813I	ENSP00000253255:S813I	S	-	2	0	PKDREJ	45035446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.331000	0.19733	0.007000	0.14760	-0.150000	0.13652	AGT		0.348	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656782	C	A	46656782	3	1	1	1	0	0	0	0	1	0	0	0	11970	565	20	5	4327	5	PKDREJ	22	46656782	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	6239212	46656782	4647784	59	59											
KLHL13	90293	broad.mit.edu	37	chrX	117035907	117035907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtaacattctactgTggctgttaaaaaaaaaaaga	17	12	8	4	0	1	1	0	0	1	1	1	2	1	2	0	2	2	3	0	2	8	5	rs148032932		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chrX:117035907T>C	ENST00000262820.3	-	6	2278	c.1369A>G	c.(1369-1371)Aca>Gca	p.T457A	KLHL13_ENST00000371876.1_Missense_Mutation_p.T406A|KLHL13_ENST00000371878.1_Missense_Mutation_p.T406A|KLHL13_ENST00000545703.1_Missense_Mutation_p.T415A|KLHL13_ENST00000541812.1_Missense_Mutation_p.T441A|KLHL13_ENST00000469946.1_Missense_Mutation_p.T406A|KLHL13_ENST00000539496.1_Missense_Mutation_p.T460A|KLHL13_ENST00000371882.1_Missense_Mutation_p.T406A|KLHL13_ENST00000540167.1_Missense_Mutation_p.T441A	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	457					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATTCTACTGTGGCTGTTAAA	0.323																																						uc011mtp.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1378-1380)Aca>Gca		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.							105	90	95					X																	117035907		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117035907T>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1369A>G	X.37:g.117035907T>C	ENSP00000262820:p.Thr457Ala					KLHL13_uc004eqk.3_Missense_Mutation_p.T406A|KLHL13_uc004eql.3_Missense_Mutation_p.T457A|KLHL13_uc011mtn.2_Missense_Mutation_p.T297A|KLHL13_uc011mto.2_Missense_Mutation_p.T451A|KLHL13_uc011mtq.2_Missense_Mutation_p.T441A|KLHL13_uc004eqm.3_Missense_Mutation_p.T415A|KLHL13_uc022cde.1_Missense_Mutation_p.T441A	p.T460A	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			6	1511	-			457					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1378A>G	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.535333	0.45176	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.32	4.32	0.51571	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.64567	1.98	0.58432	D	0.999996	P;P;P;P	0.45768	0.57;0.776;0.866;0.624	P;P;P;P	0.48815	0.469;0.523;0.591;0.525	D	0.84578	0.0659	10	0.72032	D	0.01	.	13.0048	0.58699	0.0:0.0:0.0:1.0	.	441;460;451;457	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	A	406;406;406;406;441;441;460;457;415;406	ENSP00000360949:T406A;ENSP00000360943:T406A;ENSP00000360945:T406A;ENSP00000412640:T406A;ENSP00000444450:T441A;ENSP00000441029:T441A;ENSP00000443191:T460A;ENSP00000262820:T457A;ENSP00000440707:T415A;ENSP00000419803:T406A	ENSP00000262820:T457A	T	-	1	0	KLHL13	116919935	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.743000	0.85020	1.709000	0.51313	0.437000	0.28790	ACA		0.323	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		C	117035907	T	C	117035907	3	2	1	1	0	0	0	0	1	0	0	0	8369	1696	59	4	606	4	KLHL13	23	117035907	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08		117035907	38234653	60	60											
CYR61	3491	broad.mit.edu	37	chr1	86047880	86047881	+	In_Frame_Ins	INS	-	-	TGG																															cggcctccttggcaaggagcINStgggattcgatgcctccgag																										TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:86047880_86047881insTGG	ENST00000451137.2	+	3	771_772	c.547_548insTGG	c.(547-549)ctg>cTGGtg	p.183_184insV		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	183					anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGCAAGGAGCTGGGATTCGAT	0.559											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dle.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(547-549)ctg>cTGGtg		Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.																																				SO:0001652	inframe_insertion	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047880_86047881insTGG	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.548_550dupTGG	1.37:g.86047881_86047883dupTGG	ENSP00000398736:p.Leu183_Gly184insVal		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_uc021opf.1_In_Frame_Ins_p.116_117insV	p.183_184insV	NM_001554	NP_001545	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	2	771_772	+			183					O14934|O43775|Q9BZL7	In_Frame_Ins	INS	ENST00000451137.2	37	c.547_548insTGG	CCDS706.1																																																																																				0.559	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		TGG	86047881	-	TGG	86047880	7	5	2	1	0	1	1	0	0	0	0	0	4199	796	28	0	557	0	CYR61	1	86047880	In_Frame_Ins	INS	-	TCGA-02-0033-01A-01D-1490-08		86047880	163202741	1	61											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcttgcaggactcactggGtagatggtattcgactcctt	8	13	11	9	1	2	1	1	0	1	1	4	3	3	2	1	3	1	3	1	3	2	5			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(2128-2130)gGt>gAt		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF10_uc010oxo.1_Missense_Mutation_p.G637D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.G527D|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.G513D|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.G372D	p.G710D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	17	2323	+	all_hematologic(923;0.032)		712						Missense_Mutation	SNP	ENST00000440491.2	37	c.2129G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		A	144825409	G	A	144825409	3	1	2	1	0	0	0	0	1	0	0	0	10199	1261	44	3	2195	3	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	58777529	144825409	104425212	2	62											
PIGR	5284	broad.mit.edu	37	chr1	207110686	207110686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcggcacagaaatttggCcacgtttgccacctcagggc	8	9	11	13	2	1	1	1	0	0	1	2	1	1	1	3	3	1	2	3	3	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:207110686C>T	ENST00000356495.4	-	4	982	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	267	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAAATTTGGCCACGTTTGCC	0.592																																						uc001hez.3																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(799-801)Gcc>Acc		Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.							70	69	69					1																	207110686		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110686C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.799G>A	1.37:g.207110686C>T	ENSP00000348888:p.Ala267Thr					PIGR_uc009xbz.3_Missense_Mutation_p.A267T	p.A267T	NM_002644	NP_002635	P01833	PIGR_HUMAN			3	983	-			267			Ig-like V-type 3.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.799G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685645	0.68157	.	.	ENSG00000162896	ENST00000356495	T	0.65549	-0.16	5.79	-4.63	0.03359	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.177410	0.06028	N	0.652507	T	0.56352	0.1979	L	0.46157	1.445	0.09310	N	1	B	0.32918	0.39	B	0.41271	0.352	T	0.50180	-0.8858	10	0.14252	T	0.57	-14.6477	11.1236	0.48304	0.1482:0.1154:0.6679:0.0685	.	267	P01833	PIGR_HUMAN	T	267	ENSP00000348888:A267T	ENSP00000348888:A267T	A	-	1	0	PIGR	205177309	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.686000	0.05161	-1.342000	0.02222	-0.150000	0.13652	GCC		0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		T	207110686	C	T	207110686	3	4	2	1	0	0	0	0	1	0	0	0	11897	739	26	3	1527	3	PIGR	1	207110686	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	62285277	207110686	42139935	3	63											
LIN9	286826	broad.mit.edu	37	chr1	226426780	226426780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaaattcaatgctgatGggcatggaatatgatttctg	11	13	11	6	1	2	3	1	3	1	0	2	4	2	4	0	2	1	3	0	2	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:226426780G>A	ENST00000328205.5	-	12	1730	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	LIN9_ENST00000481685.1_Silent_p.P360P|LIN9_ENST00000366801.1_Silent_p.P344P	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	379					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CAATGCTGATGGGCATGGAAT	0.343																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			0		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1183-1185)ccC>ccT		Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.							93	89	90					1																	226426780		2203	4300	6503	SO:0001819	synonymous_variant	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226426780G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1185C>T	1.37:g.226426780G>A						LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.3_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	p.P395P	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	11	1495	-	Breast(184;0.158)		379					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Silent	SNP	ENST00000328205.5	37	c.1185C>T	CCDS1553.1																																																																																				0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		A	226426780	G	A	226426780	2	1	2	1	0	0	0	0	0	0	0	1	8813	1335	47	3		3	LIN9	1	226426780	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	19316094	226426780	22823841	4	64											
FAM126B	285172	broad.mit.edu	37	chr2	201857004	201857004	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaagataataacttacCaatagtggttgagaaaaaag	19	10	9	3	0	0	2	0	1	0	2	0	4	0	2	1	1	2	2	1	1	9	6			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:201857004C>T	ENST00000418596.3	-	10	1018	c.831G>A	c.(829-831)ttG>ttA	p.L277L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	277						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AATAACTTACCAATAGTGGTT	0.333																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.e10+1		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.							63	70	67					2																	201857004		2203	4300	6503	SO:0001630	splice_region_variant	285172					intracellular		g.chr2:201857004C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.831+1G>A	2.37:g.201857004C>T						FAM126B_uc002uwu.3_Splice_Site_p.L195_splice|FAM126B_uc002uwv.3_Splice_Site_p.L277_splice	p.L277_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			10	1019	-			277					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.831_splice	CCDS2335.1																																																																																				0.333	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	Silent	T	201857004	C	T	201857004	5	4	2	1	0	0	0	0	0	0	1	0	5430	608	21	3	773	3	FAM126B	2	201857004	Splice_Site	SNP	C	TCGA-02-0033-01A-01D-1490-08		201857004	41342369	5	65											
IRS1	3667	broad.mit.edu	37	chr2	227662172	227662172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggagccatactcatccGaggagatgaaaccgccatcg	12	6	11	12	3	1	2	1	1	0	1	3	6	2	3	4	2	3	0	4	2	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:227662172G>A	ENST00000305123.5	-	1	2303	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	428	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S428L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATACTCATCCGAGGAGATGAA	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021vxn.1																			1	Substitution - Missense(1)	p.S428L(2)	central_nervous_system(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1282-1284)tCg>tTg		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							80	87	85					2																	227662172		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662172G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1283C>T	2.37:g.227662172G>A	ENSP00000304895:p.Ser428Leu		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc002voh.4_Missense_Mutation_p.S428L	p.S428L	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	1283	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	428			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.1283C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	7.418	0.636145	0.14386	.	.	ENSG00000169047	ENST00000305123	T	0.59083	0.29	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.58779	0.2146	N	0.20685	0.6	0.47659	D	0.999485	D	0.71674	0.998	P	0.57679	0.825	T	0.54057	-0.8350	10	0.22706	T	0.39	-18.0589	19.6195	0.95650	0.0:0.0:1.0:0.0	.	428	P35568	IRS1_HUMAN	L	428	ENSP00000304895:S428L	ENSP00000304895:S428L	S	-	2	0	IRS1	227370416	1.000000	0.71417	0.923000	0.36655	0.596000	0.36781	6.265000	0.72534	2.633000	0.89246	0.561000	0.74099	TCG		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227662172	G	A	227662172	3	1	2	1	0	0	0	0	1	0	0	0	7840	1059	37	2	2449	2	IRS1	2	227662172	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	25805168	227662172	15537201	6	66											
FLNB	2317	broad.mit.edu	37	chr3	58140654	58140654	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatattgcccaagagccTggtatgtattcagggttcac	9	14	9	9	0	3	1	2	0	1	1	3	1	3	1	2	2	2	3	2	2	5	7			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:58140654T>C	ENST00000295956.4	+	40	6936	c.6771T>C	c.(6769-6771)ccT>ccC	p.P2257P	FLNB_ENST00000490882.1_Splice_Site_p.P2288P|FLNB_ENST00000493452.1_Splice_Site_p.P2064P|FLNB_ENST00000358537.3_Splice_Site_p.P2233P|FLNB_ENST00000348383.5_Splice_Site_p.P2216P|FLNB_ENST00000419752.2_Splice_Site_p.P2077P|FLNB_ENST00000429972.2_Splice_Site_p.P2246P|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2257	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.G2258fs*36(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGAGCCTGGTATGTATT	0.453																																						uc003djj.2																			1	Deletion - Frameshift(1)	p.G2258fs*36(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e40+1		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.							65	65	65					3																	58140654		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58140654T>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6772+1T>C	3.37:g.58140654T>C						FLNB_uc010hne.2_Splice_Site_p.G2289_splice|FLNB_uc003djk.2_Splice_Site_p.G2247_splice|FLNB_uc010hnf.2_Splice_Site_p.G2234_splice|FLNB_uc003djl.2_Splice_Site_p.G2078_splice|FLNB_uc003djm.2_Splice_Site_p.G2065_splice	p.G2258_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	40	6937	+			2258			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.6772_splice	CCDS2885.1																																																																																				0.453	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Silent	C	58140654	T	C	58140654	5	2	2	1	0	0	0	0	0	0	1	0	5934	1594	55	4	7026	4	FLNB	3	58140654	Splice_Site	SNP	T	TCGA-02-0033-01A-01D-1490-08		58140654	139881776	7	67											
SLC9A10	285335	broad.mit.edu	37	chr3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtgctctataagtttttCgtaacagacaatcttctaca	13	14	6	8	1	3	1	0	0	3	1	4	1	3	1	0	1	3	3	0	1	6	7	rs377402243		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323																																						uc003dyu.3																			1	Substitution - Missense(1)	p.R1064Q(1)	skin(1)								c.(3190-3192)cGa>cAa		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.		C	GLN/ARG	0,4404		0,0,2202	125	131	129		3191	0.7	0.1	3		129	2,8596	2.2+/-6.3	0,2,4297	no	missense	SLC9A10	NM_183061.1	43	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1064/1178	111887770	2,13000	2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887770C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3191G>A	3.37:g.111887770C>T	ENSP00000306627:p.Arg1064Gln					SLC9C1_uc011bhu.2_Missense_Mutation_p.R327Q|SLC9C1_uc010hqc.3_Missense_Mutation_p.R1016Q	p.R1064Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			24	3413	-			1064					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3191G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731570	0.15507	0.0	2.33E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78246	-1.16;-1.16	6.06	0.733	0.18289	.	0.677608	0.13656	N	0.371958	T	0.61048	0.2316	L	0.31926	0.97	0.24446	N	0.994508	P;P	0.45176	0.608;0.852	B;B	0.34301	0.179;0.032	T	0.51268	-0.8727	10	0.46703	T	0.11	0.5387	9.0873	0.36590	0.0:0.5854:0.0:0.4146	.	1016;1064	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	1064;1016	ENSP00000306627:R1064Q;ENSP00000420688:R1016Q	ENSP00000306627:R1064Q	R	-	2	0	SLC9A10	113370460	0.376000	0.25098	0.116000	0.21606	0.014000	0.08584	0.358000	0.20216	0.168000	0.19655	-0.808000	0.03180	CGA		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111887770	C	T	111887770	3	4	2	1	0	0	0	0	1	0	0	0	14710	884	31	2	362	2	SLC9A10	3	111887770	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	53747116	111887770	86134660	8	68											
HLTF	6596	broad.mit.edu	37	chr3	148804115	148804115	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccttcacctcttgaacatCcaggacatggcgctgagtgg	8	9	10	14	1	2	2	1	2	1	0	3	3	3	3	4	3	1	1	4	3	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:148804115C>T	ENST00000310053.5	-	1	202	c.9G>A	c.(7-9)tgG>tgA	p.W3*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.W3*|HLTF_ENST00000481663.1_5'UTR|HLTF-AS1_ENST00000492461.1_RNA|HLTF_ENST00000392912.2_Nonsense_Mutation_p.W3*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.W3*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	3					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTGAACATCCAGGACATGG	0.652																																						uc003ewq.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(7-9)tgG>tgA		Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.							28	28	28					3																	148804115		2203	4300	6503	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148804115C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.9G>A	3.37:g.148804115C>T	ENSP00000308944:p.Trp3*					HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	p.W3*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		0	227	-			3					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.9G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.259822	0.98171	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	.	.	.	4.72	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1215	6.1823	0.20478	0.1827:0.7217:0.0:0.0956	.	.	.	.	X	3	.	ENSP00000308944:W3X	W	-	3	0	HLTF	150286805	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.234000	0.32660	0.690000	0.31570	0.655000	0.94253	TGG		0.652	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			T	148804115	C	T	148804115	4	4	2	1	0	0	0	0	0	1	0	0	7215	856	30	3	3120	3	HLTF	3	148804115	Nonsense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	36916345	148804115	49218315	9	69											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		555	Substitution - Missense(555)	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936082	G	A	178936082	3	1	2	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	30131967	178936082	19086348	10	70											
LARP1B	55132	broad.mit.edu	37	chr4	129003366	129003366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagatgttgtaagatcAgagagtcaagaaagacctgg	15	9	11	6	0	2	5	2	0	0	5	2	6	2	5	1	1	0	2	1	1	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr4:129003366A>G	ENST00000326639.6	+	5	475	c.264A>G	c.(262-264)tcA>tcG	p.S88S	LARP1B_ENST00000427266.1_Silent_p.S88S|LARP1B_ENST00000512292.1_Silent_p.S88S|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.S88S|LARP1B_ENST00000394288.3_Silent_p.S88S|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Silent_p.S88S	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	88						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTGTAAGATCAGAGAGTCAAG	0.373																																						uc003iga.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(262-264)tcA>tcG		Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.							103	101	101					4																	129003366		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129003366A>G		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.264A>G	4.37:g.129003366A>G						LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.3_Silent_p.S88S|LARP1B_uc003ify.3_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	p.S88S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			4	395	+			88					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.264A>G	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337215	0.24253	.	.	ENSG00000138709	ENST00000507377	.	.	.	4.49	2.02	0.26589	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53251	-0.8465	4	.	.	.	.	8.2238	0.31558	0.7355:0.1345:0.0:0.13	.	.	.	.	G	57	.	.	R	+	1	2	LARP1B	129222816	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.527000	0.35975	1.902000	0.55061	0.374000	0.22700	AGA		0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		G	129003366	A	G	129003366	2	3	2	1	0	0	0	0	0	0	0	1	8629	175	7	4		4	LARP1B	4	129003366	Silent	SNP	A	TCGA-02-0033-01A-01D-1490-08		129003366	62150910	11	71											
PCDHA1	56147	broad.mit.edu	37	chr5	140167909	140167909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccaggcgccaaaggcGtcttcgcgggcgtcggtggg	5	5	19	12	7	1	0	0	0	1	0	3	0	1	0	2	6	1	0	2	6	1	1	rs562110007		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:140167909G>A	ENST00000504120.2	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA1_ENST00000378133.3_Silent_p.A678A|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A678A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAAGGCGTCTTCGCGGG	0.662													.|||	1	0.000199681	0	0	5008	,	,		16213	0		0.001	False		,,,				2504	0					uc003lhb.2																			2	Substitution - coding silent(2)	p.A678A(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2032-2034)gcG>gcA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							42	47	45					5																	140167909		2201	4300	6501	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167909G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2034G>A	5.37:g.140167909G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A678A	p.A678A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2034	+			687			Cadherin 6.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2034G>A	CCDS54913.1																																																																																				0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167909	G	A	140167909	2	1	2	1	0	0	0	0	0	0	0	1	11519	1132	40	1		1	PCDHA1	5	140167909	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		140167909	40747351	12	72											
HRH2	3274	broad.mit.edu	37	chr5	175110363	175110363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtcgtctgtctggccGtgggcttgaaccgccggctc	3	11	15	12	4	2	1	0	1	2	0	4	1	2	1	3	4	1	2	3	4	1	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:175110363G>A	ENST00000231683.2	+	1	1900	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	HRH2_ENST00000377291.2_Missense_Mutation_p.V43M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	43					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTGTCTGGCCGTGGGCTTGAA	0.587																																						uc003mdc.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(127-129)Gtg>Atg		Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						202	174	184					5																	175110363		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110363G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.127G>A	5.37:g.175110363G>A	ENSP00000231683:p.Val43Met					HRH2_uc003mdd.2_Missense_Mutation_p.V43M	p.V43M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	771	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	43					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.127G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352568	0.82132	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.40225	1.04;1.04	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.952;0.998	D	0.84499	0.0615	10	0.72032	D	0.01	.	18.0413	0.89319	0.0:0.0:1.0:0.0	.	43;43	P25021;Q7Z5R9	HRH2_HUMAN;.	M	43	ENSP00000366506:V43M;ENSP00000231683:V43M	ENSP00000231683:V43M	V	+	1	0	HRH2	175042969	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	7.962000	0.87912	2.519000	0.84933	0.462000	0.41574	GTG		0.587	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			A	175110363	G	A	175110363	3	1	2	1	0	0	0	0	1	0	0	0	7356	1145	40	1	129	1	HRH2	5	175110363	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	34942454	175110363	5804897	13	73											
SEMA3C	10512	broad.mit.edu	37	chr7	80546078	80546078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatactccaaccaacacgCaaattgtccggaatgccatt	15	9	5	12	2	0	0	0	0	0	0	2	1	2	1	4	1	4	1	4	1	7	4			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:80546078C>A	ENST00000265361.3	-	2	581	c.20G>T	c.(19-21)tGc>tTc	p.C7F	SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C7F|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.C25F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	7					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACCAACACGCAAATTGTCCG	0.353																																						uc011kgw.2																			0		p.P25H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(73-75)tGc>tTc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							115	107	110					7																	80546078		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546078C>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.20G>T	7.37:g.80546078C>A	ENSP00000265361:p.Cys7Phe					SEMA3C_uc003uhj.3_Missense_Mutation_p.C7F|SEMA3C_uc011kgx.1_5'UTR	p.C25F	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			1	153	-			7					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.74G>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037530	0.07497	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.25250	1.81;1.81;1.81	5.39	-0.792	0.10925	.	1.089520	0.06801	N	0.788789	T	0.10981	0.0268	N	0.08118	0	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28427	-1.0044	10	0.37606	T	0.19	.	1.3858	0.02240	0.523:0.1533:0.1603:0.1634	.	25;7	F5H1Z7;Q99985	.;SEM3C_HUMAN	F	7;7;25	ENSP00000265361:C7F;ENSP00000411193:C7F;ENSP00000445649:C25F	ENSP00000265361:C7F	C	-	2	0	SEMA3C	80384014	0.009000	0.17119	0.000000	0.03702	0.251000	0.25915	0.617000	0.24359	-0.287000	0.09064	0.650000	0.86243	TGC		0.353	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80546078	C	A	80546078	3	1	2	1	0	0	0	0	1	0	0	0	14026	710	25	5	2303	5	SEMA3C	7	80546078	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		80546078	78592585	14	74											
PDIA4	9601	broad.mit.edu	37	chr7	148703125	148703125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcacgaagtccttgatGgccgagtcctgggtggagcc	7	9	14	11	2	1	1	1	1	0	0	3	4	3	2	4	3	2	1	4	3	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:148703125G>A	ENST00000286091.4	-	8	1384	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	384					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGTCCTTGATGGCCGAGTCCT	0.592											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003wff.2																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1150-1152)gcC>gcT		Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.							49	49	49					7																	148703125		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148703125G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1152C>T	7.37:g.148703125G>A			OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.A384A	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		7	1434	-	Melanoma(164;0.15)		384					A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1152C>T	CCDS5893.1																																																																																				0.592	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		A	148703125	G	A	148703125	2	1	2	1	0	0	0	0	0	0	0	1	11670	1335	47	3		3	PDIA4	7	148703125	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	68157047	148703125	10435538	15	75											
ZDHHC2	51201	broad.mit.edu	37	chr8	17072848	17072848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagcataaacccaggaaaAtgcaaagctggtaagggtgt	16	6	12	7	0	0	0	0	0	0	0	0	1	0	1	1	3	5	5	1	3	6	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:17072848A>G	ENST00000262096.8	+	11	1748	c.1053A>G	c.(1051-1053)aaA>aaG	p.K351K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	351					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCCAGGAAAATGCAAAGCTG	0.403																																						uc003wxe.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(1051-1053)aaA>aaG		Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.							66	66	66					8																	17072848		1870	4108	5978	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17072848A>G	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.1053A>G	8.37:g.17072848A>G							p.K351K	NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	10	1450	+			351					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.1053A>G	CCDS47810.1																																																																																				0.403	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		G	17072848	A	G	17072848	2	3	2	1	0	0	0	0	0	0	0	1	17607	98	4	4		4	ZDHHC2	8	17072848	Silent	SNP	A	TCGA-02-0033-01A-01D-1490-08		17072848	129291174	16	76											
FBXO16	157574	broad.mit.edu	37	chr8	28321322	28321322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttctttgagagtctGtccatttgtcaaactggaaa	9	17	7	8	0	5	1	1	1	4	1	6	3	6	2	1	1	1	0	1	1	2	5			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:28321322G>T	ENST00000380254.2	-	4	297	c.149C>A	c.(148-150)aCa>aAa	p.T50K	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Missense_Mutation_p.T38K|FBXO16_ENST00000346498.2_Missense_Mutation_p.T38K	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	50										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTGAGAGTCTGTCCATTTGTC	0.428																																						uc003xgu.3																			0				large_intestine(2)|ovary(1)	3						c.(148-150)aCa>aAa		Homo sapiens F-box protein 16 (FBXO16), mRNA.							38	39	39					8																	28321322		2203	4299	6502	SO:0001583	missense	157574							g.chr8:28321322G>T	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.149C>A	8.37:g.28321322G>T	ENSP00000369604:p.Thr50Lys					ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.T37K	p.T50K	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	3	247	-		Ovarian(32;2.06e-05)	50					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.149C>A	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632297	0.87660	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	T;T;T;T	0.45668	2.42;2.33;2.36;0.89	5.78	5.78	0.91487	.	0.152933	0.42964	U	0.000636	T	0.53334	0.1790	M	0.66939	2.045	0.80722	D	1	P;P;P	0.52842	0.745;0.956;0.956	B;P;P	0.48368	0.372;0.575;0.575	T	0.56643	-0.7945	10	0.72032	D	0.01	-38.8957	19.3632	0.94451	0.0:0.0:1.0:0.0	.	38;38;50	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	K	50;38;38;50	ENSP00000369604:T50K;ENSP00000341416:T38K;ENSP00000429687:T38K;ENSP00000429390:T50K	ENSP00000341416:T38K	T	-	2	0	FBXO16	28377241	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.424000	0.97464	2.894000	0.99253	0.591000	0.81541	ACA		0.428	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		T	28321322	G	T	28321322	3	4	2	1	0	0	0	0	1	0	0	0	5729	1377	48	5	753	5	FBXO16	8	28321322	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	11248474	28321322	118042700	17	77											
KIAA0020	9933	broad.mit.edu	37	chr9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggctttgtcattgtatgCgtactccacgatggctgatg	8	14	11	8	2	1	1	1	1	0	0	2	2	2	1	1	2	2	4	1	2	3	4	rs62534389		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:2829854C>T	ENST00000397885.2	-	8	978	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	258	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458																																						uc003zhp.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(772-774)Gca>Aca		Homo sapiens KIAA0020 (KIAA0020), mRNA.							253	226	235					9																	2829854		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829854C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.772G>A	9.37:g.2829854C>T	ENSP00000380982:p.Ala258Thr					KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	p.A258T	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	7	868	-			258			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.772G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148685	0.78001	.	.	ENSG00000080608	ENST00000397885	T	0.64085	-0.08	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.987	P;P	0.56088	0.791;0.701	T	0.78437	-0.2204	10	0.56958	D	0.05	-23.3131	20.8794	0.99867	0.0:1.0:0.0:0.0	.	118;258	B2RDG4;Q15397	.;K0020_HUMAN	T	258	ENSP00000380982:A258T	ENSP00000380982:A258T	A	-	1	0	KIAA0020	2819854	1.000000	0.71417	0.272000	0.24630	0.069000	0.16628	7.476000	0.81055	2.941000	0.99782	0.655000	0.94253	GCA		0.458	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		T	2829854	C	T	2829854	3	4	2	1	0	0	0	0	1	0	0	0	8152	768	27	1	1218	1	KIAA0020	9	2829854	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		2829854	138383577	18	78											
C9orf25	203259	broad.mit.edu	37	chr9	34401054	34401054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaggtctaggtcctcgtCgtcggggatctcatctaacc	7	11	12	11	3	3	1	1	1	3	0	8	3	4	2	2	4	1	0	2	4	2	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:34401054C>T	ENST00000445726.1	-	6	772	c.466G>A	c.(466-468)Gac>Aac	p.D156N	FAM219A_ENST00000379084.1_Missense_Mutation_p.D138N|FAM219A_ENST00000297620.4_Missense_Mutation_p.D139N|FAM219A_ENST00000379089.1_Missense_Mutation_p.D154N|FAM219A_ENST00000379080.1_Missense_Mutation_p.D143N|FAM219A_ENST00000379081.1_Missense_Mutation_p.D127N|FAM219A_ENST00000379087.1_Missense_Mutation_p.D137N	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	156																	AGGTCCTCGTCGTCGGGGATC	0.617																																						uc011lok.2																			0											c.(466-468)Gac>Aac		Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.							125	110	115					9																	34401054		2203	4300	6503	SO:0001583	missense	203259							g.chr9:34401054C>T	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 25"	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.466G>A	9.37:g.34401054C>T	ENSP00000392452:p.Asp156Asn					FAM219A_uc003zuj.3_Missense_Mutation_p.D139N|FAM219A_uc011lol.2_Missense_Mutation_p.D144N|FAM219A_uc003zul.3_Missense_Mutation_p.D127N|FAM219A_uc022bgc.1_Missense_Mutation_p.D155N|FAM219A_uc022bgd.1_Missense_Mutation_p.D138N|FAM219A_uc003zuk.3_Missense_Mutation_p.D128N	p.D156N	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN			5	773	-			156					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.466G>A	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829958	0.96996	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409	.	.	.	5.44	5.44	0.79542	.	0.043625	0.85682	D	0.000000	D	0.83732	0.5318	M	0.83483	2.645	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.999;0.89	D;D;D;D;B	0.91635	0.999;0.996;0.998;0.994;0.258	D	0.85998	0.1493	9	0.87932	D	0	-10.5544	18.2613	0.90037	0.0:1.0:0.0:0.0	.	144;156;127;128;139	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	N	154;137;138;127;143;156;139;155	.	ENSP00000297620:D139N	D	-	1	0	C9orf25	34391054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.769000	0.85360	2.551000	0.86045	0.655000	0.94253	GAC		0.617	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		T	34401054	C	T	34401054	3	4	2	1	0	0	0	0	1	0	0	0	2476	884	31	2	95	2	C9orf25	9	34401054	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	31571200	34401054	106812377	19	79											
FAM75C1	441452	broad.mit.edu	37	chr9	90537820	90537820	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccgtcagaatgaaggcGtccagctactgccatcaaag	13	6	9	13	2	2	2	2	1	0	1	3	2	3	2	3	1	3	1	3	1	4	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:90537820G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAATGAAGGCGTCCAGCTACT	0.408																																						uc010mqi.3																			0											c.(2998-3000)Gtc>Atc		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							42	43	43					9																	90537820		692	1591	2283			441452							g.chr9:90537820G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537820G>A						FAM75C1_uc004apq.4_Missense_Mutation_p.V983I|DQ578031_uc022bjg.1_5'Flank	p.V1000I	NM_001145124	NP_001138596					3	3027	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2998G>A																																																																																					0.408	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		A	90537820	G	A	90537820	1	1	2	0	1	0	0	0	0	0	0	0	5623	1145	40	1		1	FAM75C1	9	90537820	RNA	SNP	G	TCGA-02-0033-01A-01D-1490-08	56136766	90537820	50675611	20	80											
EGFL7	51162	broad.mit.edu	37	chr9	139564727	139564727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacagcctgtctgcagaCggtacactctgtgtgcccaa	8	8	12	13	1	2	1	0	0	2	1	2	1	2	1	2	2	4	3	2	2	2	1	rs374085521		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:139564727C>T	ENST00000371699.1	+	7	1427	c.516C>T	c.(514-516)gaC>gaT	p.D172D	EGFL7_ENST00000406555.3_Silent_p.D172D|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000308874.7_Silent_p.D172D|EGFL7_ENST00000371698.3_Silent_p.D172D|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	172	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTCTGCAGACGGTACACTCT	0.677																																						uc004cid.3																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(514-516)gaC>gaT		Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.		T	,	0,4378		0,0,2189	22	24	23		516,516	-9.6	0	9		23	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous	EGFL7	NM_016215.4,NM_201446.2	,	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	,	172/274,172/274	139564727	1,12969	2189	4296	6485	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139564727C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.516C>T	9.37:g.139564727C>T						EGFL7_uc010nbp.3_Silent_p.D172D|EGFL7_uc004cie.3_Silent_p.D172D|EGFL7_uc004cif.3_Silent_p.D172D|EGFL7_uc004cih.3_Silent_p.D172D|MIR126_uc022bps.1_5'Flank	p.D172D	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	6	1427	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	172			EGF-like 2; calcium-binding (Potential).		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.516C>T	CCDS7002.1																																																																																				0.677	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		T	139564727	C	T	139564727	2	4	2	1	0	0	0	0	0	0	0	1	4964	535	19	1		1	EGFL7	9	139564727	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	49026907	139564727	1648704	21	81											
ADARB2	105	broad.mit.edu	37	chr10	1405297	1405297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaacagctcctgcagtgCggcctgcgcggcctgacccc	5	6	13	17	4	0	1	0	1	0	0	2	2	1	1	5	2	5	2	5	2	1	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:1405297C>T	ENST00000381312.1	-	3	1328	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	335	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTGCAGTGCGGCCTGCGCG	0.746																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1003-1005)Gca>Aca		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							7	8	7					10																	1405297		2098	4150	6248	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405297C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1003G>A	10.37:g.1405297C>T	ENSP00000370713:p.Ala335Thr						p.A335T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	2	1329	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	335			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1003G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277734	0.80692	.	.	ENSG00000185736	ENST00000381312	D	0.85484	-1.99	5.24	5.24	0.73138	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93950	0.7231	10	0.87932	D	0	-33.2469	18.8514	0.92232	0.0:1.0:0.0:0.0	.	335	Q9NS39	RED2_HUMAN	T	335	ENSP00000370713:A335T	ENSP00000370713:A335T	A	-	1	0	ADARB2	1395297	1.000000	0.71417	0.490000	0.27465	0.254000	0.26022	7.681000	0.84073	2.445000	0.82738	0.561000	0.74099	GCA		0.746	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		T	1405297	C	T	1405297	3	4	2	1	0	0	0	0	1	0	0	0	283	768	27	1	1248	1	ADARB2	10	1405297	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		1405297	134129450	22	82											
FGFR2	2263	broad.mit.edu	37	chr10	123298220	123298220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataatgaggctccagtgctGgtttcgtacctgaaaagatc	11	11	10	9	1	0	3	0	2	0	1	3	3	1	3	2	2	2	4	2	2	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:123298220G>T	ENST00000358487.5	-	6	906	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	FGFR2_ENST00000369059.1_Missense_Mutation_p.Q97K|FGFR2_ENST00000369061.4_Missense_Mutation_p.Q212K|FGFR2_ENST00000457416.2_Missense_Mutation_p.Q212K|FGFR2_ENST00000346997.2_Missense_Mutation_p.Q212K|FGFR2_ENST00000351936.6_Missense_Mutation_p.Q212K|FGFR2_ENST00000360144.3_Missense_Mutation_p.Q123K|FGFR2_ENST00000357555.5_Missense_Mutation_p.Q123K|FGFR2_ENST00000356226.4_Missense_Mutation_p.Q97K|FGFR2_ENST00000369060.4_Missense_Mutation_p.Q212K|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.Q212K|FGFR2_ENST00000369056.1_Missense_Mutation_p.Q212K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	212	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.Q212K(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAGTGCTGGTTTCGTACC	0.418		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													uc021pzz.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		1	Substitution - Missense(1)	p.Q212K(2)|p.N211I(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(634-636)Cag>Aag		Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	Palifermin(DB00039)						144	126	132					10																	123298220		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123298220G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.634C>A	10.37:g.123298220G>T	ENSP00000351276:p.Gln212Lys					FGFR2_uc021pzv.1_Missense_Mutation_p.Q212K|FGFR2_uc021pzw.1_Missense_Mutation_p.Q97K|FGFR2_uc021pzx.1_Missense_Mutation_p.Q123K|FGFR2_uc021pzy.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtl.2_Missense_Mutation_p.Q212K|FGFR2_uc010qtm.2_Missense_Mutation_p.Q97K|FGFR2_uc021qaa.1_Missense_Mutation_p.Q212K|FGFR2_uc021qab.1_Missense_Mutation_p.Q123K|FGFR2_uc021qac.1_Missense_Mutation_p.Q142K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.Q231K|FGFR2_uc010qto.2_Missense_Mutation_p.Q116K|FGFR2_uc001lfo.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtp.2_Missense_Mutation_p.Q231K|FGFR2_uc010qtq.2_Missense_Mutation_p.Q231K	p.Q212K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	1281	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	212			Ig-like C2-type 2.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.634C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942640	0.73672	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	N	0.17278	0.47	0.80722	D	1	B;B;B;P;B;B;B;P;B;P;B;B	0.42248	0.005;0.238;0.003;0.477;0.022;0.041;0.077;0.586;0.413;0.774;0.002;0.304	B;B;B;B;B;B;B;B;B;B;B;B	0.41917	0.012;0.145;0.008;0.27;0.042;0.037;0.153;0.358;0.37;0.199;0.006;0.337	T	0.49725	-0.8909	10	0.32370	T	0.25	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	231;231;97;212;231;212;123;97;212;231;123;212	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	K	123;212;212;212;97;212;97;212;212;212;123;212;212;123;212	ENSP00000350166:Q123K;ENSP00000358057:Q212K;ENSP00000351276:Q212K;ENSP00000348559:Q97K;ENSP00000358056:Q212K;ENSP00000358055:Q97K;ENSP00000263451:Q212K;ENSP00000410294:Q212K;ENSP00000309878:Q212K;ENSP00000353262:Q123K;ENSP00000358052:Q212K;ENSP00000358054:Q212K;ENSP00000337665:Q123K;ENSP00000352309:Q212K	ENSP00000337665:Q123K	Q	-	1	0	FGFR2	123288210	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.752000	0.98900	2.941000	0.99782	0.655000	0.94253	CAG		0.418	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		T	123298220	G	T	123298220	3	4	2	1	0	0	0	0	1	0	0	0	5866	1357	47	5	2139	5	FGFR2	10	123298220	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	121892923	123298220	12236527	23	83											
SLC22A9	114571	broad.mit.edu	37	chr11	63141216	63141216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatttactgctcactaCgcttcttgtctgggattgct	5	17	7	12	1	4	0	2	0	2	0	5	1	5	1	1	1	4	3	1	1	2	6			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:63141216C>T	ENST00000279178.3	+	3	856	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	203					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTCACTACGCTTCTTGTC	0.458																																						uc001nww.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(607-609)Cgc>Tgc		Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.							183	159	167					11																	63141216		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63141216C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.607C>T	11.37:g.63141216C>T	ENSP00000279178:p.Arg203Cys					SLC22A9_uc001nwx.3_Intron	p.R203C	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			2	875	+			203					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.607C>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109566	0.56398	.	.	ENSG00000149742	ENST00000279178	T	0.70749	-0.51	4.17	3.26	0.37387	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.83115	0.5184	M	0.91510	3.215	0.80722	D	1	D	0.61080	0.989	P	0.59115	0.852	D	0.85380	0.1119	10	0.72032	D	0.01	.	10.0655	0.42301	0.0:0.8991:0.0:0.1009	.	203	Q8IVM8	S22A9_HUMAN	C	203	ENSP00000279178:R203C	ENSP00000279178:R203C	R	+	1	0	SLC22A9	62897792	0.668000	0.27493	0.709000	0.30452	0.251000	0.25915	1.125000	0.31332	1.135000	0.42183	0.388000	0.25769	CGC		0.458	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		T	63141216	C	T	63141216	3	4	2	1	0	0	0	0	1	0	0	0	14461	536	19	1	617	1	SLC22A9	11	63141216	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		63141216	71865300	24	84											
TSKU	25987	broad.mit.edu	37	chr11	76506917	76506917	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgggctacacgacgtTggctggcctggatctcagcc	5	7	16	13	3	1	0	1	0	1	0	2	2	1	1	3	6	2	3	3	6	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:76506917T>G	ENST00000527881.1	+	2	1283	c.257T>G	c.(256-258)tTg>tGg	p.L86W	TSKU_ENST00000333090.4_Missense_Mutation_p.L86W			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	86					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TACACGACGTTGGCTGGCCTG	0.632																																						uc021qno.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(256-258)tTg>tGg		Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.							68	52	58					11																	76506917		2200	4292	6492	SO:0001583	missense	25987					extracellular region		g.chr11:76506917T>G	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"leucine rich repeat containing 54", "tsukushin", "tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.257T>G	11.37:g.76506917T>G	ENSP00000434847:p.Leu86Trp					TSKU_uc001oxt.3_Missense_Mutation_p.L86W	p.L86W	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			0	257	+	Ovarian(111;0.112)		86					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.257T>G	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809258	0.70797	.	.	ENSG00000182704	ENST00000533752;ENST00000333090;ENST00000439807;ENST00000525167;ENST00000527881	T;T;T;T	0.31247	1.5;1.5;2.05;1.5	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.68650	0.3024	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80178	-0.1490	10	0.87932	D	0	-11.8832	13.9691	0.64228	0.0:0.0:0.0:1.0	.	86	Q8WUA8	TSK_HUMAN	W	86	ENSP00000435133:L86W;ENSP00000332668:L86W;ENSP00000434873:L86W;ENSP00000434847:L86W	ENSP00000332668:L86W	L	+	2	0	TSKU	76184565	1.000000	0.71417	0.993000	0.49108	0.571000	0.35966	8.035000	0.88872	1.972000	0.57404	0.528000	0.53228	TTG		0.632	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		G	76506917	T	G	76506917	3	3	2	1	0	0	0	0	1	0	0	0	16624	1821	63	5	259	5	TSKU	11	76506917	Missense_Mutation	SNP	T	TCGA-02-0033-01A-01D-1490-08	13365701	76506917	58499599	25	85											
GPR19	2842	broad.mit.edu	37	chr12	12814147	12814155	+	In_Frame_Del	DEL	ATTTGGTGG	ATTTGGTGG	-																															atgagaacttagacaaaagtAtttggtggatttgagttaat																								rs61733942		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12814147_12814155delATTTGGTGG	ENST00000540510.1	-	2	1420_1428	c.1228_1236delCCACCAAAT	c.(1228-1236)ccaccaaatdel	p.PPN410del	GPR19_ENST00000332427.2_In_Frame_Del_p.PPN410del			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACAAAAGTATTTGGTGGATTTGAGTTA	0.34																																						uc001rar.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1228-1236)ccaccaaatdel		Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.																																				SO:0001651	inframe_deletion	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814147_12814155delATTTGGTGG		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1228_1236delCCACCAAAT	12.37:g.12814147_12814155delATTTGGTGG	ENSP00000441832:p.Pro410_Asn412del					GPR19_uc001raq.2_In_Frame_Del_p.PPN410del|GPR19_uc021qvj.1_In_Frame_Del_p.PPN410del	p.PPN410del	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	1	1421_1429	-		Prostate(47;0.0802)	410					A8K3T3|B0M0K1|Q6NWM4	In_Frame_Del	DEL	ENST00000540510.1	37	c.1228_1236delCCACCAAAT	CCDS8652.1																																																																																				0.34	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		-	12814155	ATTTGGTGG	-	12814147	7	5	2	1	0	1	0	1	0	0	0	0	6679	446	16	0	15	0	GPR19	12	12814147	In_Frame_Del	DEL	ATTTGGTGG	TCGA-02-0033-01A-01D-1490-08		12814147	121037748	26	86											
CDKN1B	1027	broad.mit.edu	37	chr12	12871093	12871093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccggcgcaggagagccAggatgtcagcgggagccgcc	7	3	19	12	4	1	1	1	0	0	1	1	4	1	3	4	5	4	1	4	5	0	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12871093A>G	ENST00000228872.4	+	1	1036	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.Q107R	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	107					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGGAGAGCCAGGATGTCAGC	0.642																																						uc001rat.2																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(319-321)cAg>cGg		Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.							25	34	31					12																	12871093		2199	4298	6497	SO:0001583	missense	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871093A>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.320A>G	12.37:g.12871093A>G	ENSP00000228872:p.Gln107Arg						p.Q107R	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	0	792	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	107					Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	c.320A>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	A	8.400	0.841651	0.16963	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	T;T	0.64438	-0.1;-0.1	5.4	-2.15	0.07102	.	0.679769	0.13809	N	0.361280	T	0.38639	0.1048	L	0.34521	1.04	0.25609	N	0.986512	B	0.24675	0.109	B	0.19666	0.026	T	0.14090	-1.0485	10	0.20046	T	0.44	-8.7764	2.1432	0.03780	0.1997:0.2212:0.082:0.4971	.	107	P46527	CDN1B_HUMAN	R	107;56;107	ENSP00000228872:Q107R;ENSP00000379629:Q107R	ENSP00000228872:Q107R	Q	+	2	0	CDKN1B	12762360	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	0.913000	0.28611	-0.013000	0.14199	0.528000	0.53228	CAG		0.642	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		G	12871093	A	G	12871093	3	3	2	1	0	0	0	0	1	0	0	0	3159	188	7	4	322	4	CDKN1B	12	12871093	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	56946	12871093	120980802	27	87											
ITGA7	3679	broad.mit.edu	37	chr12	56078847	56078847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacatgggaacctaggCggtgcctggccctggatgcc	6	7	16	12	1	0	0	0	0	0	0	0	3	0	3	4	6	3	0	4	6	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56078847C>T	ENST00000555728.1	-	26	3569	c.3541G>A	c.(3541-3543)Gcc>Acc	p.A1181T	ITGA7_ENST00000257879.6_Missense_Mutation_p.A1137T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A1131T|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Missense_Mutation_p.A1044T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A1141T			Q13683	ITA7_HUMAN	integrin, alpha 7	1181					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.A1141T(1)|p.A1137T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGAACCTAGGCGGTGCCTGGC	0.697																																						uc001shh.3																			2	Substitution - Missense(2)	p.A1141T(1)|p.A1137T(1)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3421-3423)Gcc>Acc		Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.							19	22	21					12																	56078847		2200	4297	6497	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078847C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3541G>A	12.37:g.56078847C>T	ENSP00000452387:p.Ala1181Thr					ITGA7_uc001shg.3_Missense_Mutation_p.A1137T|ITGA7_uc010sps.2_Missense_Mutation_p.A1044T|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Missense_Mutation_p.A384T|ITGA7_uc009znx.3_Missense_Mutation_p.A1018T	p.A1141T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			24	3641	-			1181					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3421G>A		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876422	0.72180	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.71817	-0.59;-0.59;-0.52;-0.19;-0.6	4.76	4.76	0.60689	.	1.991470	0.02307	N	0.071731	T	0.72843	0.3511	N	0.03608	-0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.996;0.993	T	0.65500	-0.6153	10	0.87932	D	0	.	13.2833	0.60228	0.0:1.0:0.0:0.0	.	1044;1181;1141;1200	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	1141;1137;1131;1044;1181	ENSP00000452120:A1141T;ENSP00000257879:A1137T;ENSP00000343009:A1131T;ENSP00000393844:A1044T;ENSP00000452387:A1181T	ENSP00000257879:A1137T	A	-	1	0	ITGA7	54365114	0.867000	0.29959	0.750000	0.31169	0.009000	0.06853	1.423000	0.34837	2.181000	0.69327	0.555000	0.69702	GCC		0.697	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		T	56078847	C	T	56078847	3	4	2	1	0	0	0	0	1	0	0	0	7881	768	27	1	8	1	ITGA7	12	56078847	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	43207754	56078847	77773048	28	88											
ANKRD52	283373	broad.mit.edu	37	chr12	56639298	56639298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccaggtgaatgggcGtgcggcccttaaagtctcgg	7	8	16	10	3	1	2	0	2	1	0	2	2	1	2	2	5	1	0	2	5	3	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56639298G>A	ENST00000267116.7	-	21	2388	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	756								p.T756M(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGAATGGGCGTGCGGCCCTT	0.627																																						uc001skm.4																			1	Substitution - Missense(1)	p.T756M(2)	endometrium(1)	endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2266-2268)aCg>aTg		Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.							49	54	53					12																	56639298		2117	4222	6339	SO:0001583	missense	283373						protein binding	g.chr12:56639298G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2267C>T	12.37:g.56639298G>A	ENSP00000267116:p.Thr756Met						p.T756M	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			20	2357	-			756					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2267C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964053	0.74131	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27720	1.65	4.22	4.22	0.49857	Ankyrin repeat-containing domain (4);	0.060098	0.64402	D	0.000004	T	0.61578	0.2358	M	0.89214	3.015	0.54753	D	0.999984	D	0.89917	1.0	D	0.80764	0.994	T	0.71248	-0.4649	10	0.87932	D	0	.	15.8836	0.79222	0.0:0.0:1.0:0.0	.	756	Q8NB46	ANR52_HUMAN	M	756	ENSP00000267116:T756M	ENSP00000267116:T756M	T	-	2	0	ANKRD52	54925565	1.000000	0.71417	0.957000	0.39632	0.922000	0.55478	7.425000	0.80255	2.362000	0.80069	0.491000	0.48974	ACG		0.627	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		A	56639298	G	A	56639298	3	1	2	1	0	0	0	0	1	0	0	0	678	1145	40	1	995	1	ANKRD52	12	56639298	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	560451	56639298	77212597	29	89											
ACADS	35	broad.mit.edu	37	chr12	121176680	121176680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggctgctgacctggcgcGctgccatgctgaaggataac	7	7	13	14	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:121176680G>A	ENST00000242592.4	+	8	1142	c.991G>A	c.(991-993)Gct>Act	p.A331T	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.A327T	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	331					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GACCTGGCGCGCTGCCATGCT	0.637																																						uc001tza.4																			0		p.R330H(2)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM083801	ACADS	M		c.(991-993)Gct>Act		Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						46	51	49					12																	121176680		2203	4299	6502	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176680G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.991G>A	12.37:g.121176680G>A	ENSP00000242592:p.Ala331Thr					ACADS_uc010szl.1_Missense_Mutation_p.A327T	p.A331T	NM_000017	NP_000008	P16219	ACADS_HUMAN			7	1109	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	331					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.991G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159134	0.94686	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.97303	-4.33;-4.33	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.991	D	0.99780	1.1027	10	0.87932	D	0	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	327;331;331	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	T	331;327	ENSP00000242592:A331T;ENSP00000401045:A327T	ENSP00000242592:A331T	A	+	1	0	ACADS	119661063	1.000000	0.71417	0.160000	0.22671	0.896000	0.52359	9.462000	0.97649	2.125000	0.65367	0.561000	0.74099	GCT		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		A	121176680	G	A	121176680	3	1	2	1	0	0	0	0	1	0	0	0	114	1087	38	1	1021	1	ACADS	12	121176680	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	64537382	121176680	12675215	30	90											
WDR66	144406	broad.mit.edu	37	chr12	122437781	122437781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagagctttgaggtgctcGgttataccaactccaaaggg	12	9	11	9	1	0	2	0	1	0	1	2	2	1	2	2	3	4	3	2	3	5	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:122437781G>A	ENST00000288912.4	+	20	4020	c.3166G>A	c.(3166-3168)Ggt>Agt	p.G1056S		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1056							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGGTGCTCGGTTATACCAA	0.448																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3166-3168)Ggt>Agt		Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.							103	96	98					12																	122437781		1892	4127	6019	SO:0001583	missense	144406						calcium ion binding	g.chr12:122437781G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3166G>A	12.37:g.122437781G>A	ENSP00000288912:p.Gly1056Ser						p.G1056S	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	19	3325	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		1056					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.3166G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945225	0.53079	.	.	ENSG00000158023	ENST00000288912	T	0.06068	3.35	5.31	5.31	0.75309	.	0.055969	0.64402	D	0.000001	T	0.11793	0.0287	M	0.76838	2.35	0.80722	D	1	P	0.34780	0.468	B	0.28139	0.086	T	0.01894	-1.1252	10	0.62326	D	0.03	.	17.7641	0.88471	0.0:0.0:1.0:0.0	.	1056	Q8TBY9	WDR66_HUMAN	S	1056	ENSP00000288912:G1056S	ENSP00000288912:G1056S	G	+	1	0	WDR66	120922164	1.000000	0.71417	0.121000	0.21740	0.397000	0.30659	6.637000	0.74304	2.487000	0.83934	0.655000	0.94253	GGT		0.448	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		A	122437781	G	A	122437781	3	1	2	1	0	0	0	0	1	0	0	0	17314	1116	39	2	3299	2	WDR66	12	122437781	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	1261101	122437781	11414114	31	91											
TNFSF11	8600	broad.mit.edu	37	chr13	43180986	43180986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcatcgaggtctccaacCcctccttactggatccggat	8	10	8	15	2	2	0	1	0	1	0	6	3	4	2	5	3	3	1	5	3	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:43180986C>T	ENST00000239849.6	+	5	1037	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	TNFSF11_ENST00000544862.1_Missense_Mutation_p.P223S|TNFSF11_ENST00000358545.2_Missense_Mutation_p.P223S|TNFSF11_ENST00000405262.2_Missense_Mutation_p.P223S|TNFSF11_ENST00000398795.2_Missense_Mutation_p.P223S			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	296					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	GGTCTCCAACCCCTCCTTACT	0.418																																						uc001uyu.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(886-888)Ccc>Tcc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.							97	99	98					13																	43180986		2203	4300	6503	SO:0001583	missense	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180986C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.886C>T	13.37:g.43180986C>T	ENSP00000239849:p.Pro296Ser					TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	p.P296S	NM_003701	NP_143026	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	4	1035	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	296					O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.886C>T	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126389	0.20959	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.74	5.74	0.90152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.115003	0.64402	D	0.000013	T	0.53238	0.1784	L	0.33189	0.99	0.48901	D	0.999725	P	0.48640	0.913	P	0.45138	0.471	T	0.44742	-0.9308	10	0.18276	T	0.48	-10.0973	13.5017	0.61459	0.0:0.9286:0.0:0.0714	.	296	O14788	TNF11_HUMAN	S	223;223;296;223;223	ENSP00000351347:P223S;ENSP00000384042:P223S;ENSP00000239849:P296S;ENSP00000381775:P223S;ENSP00000444913:P223S	ENSP00000239849:P296S	P	+	1	0	TNFSF11	42078986	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	2.768000	0.47645	2.873000	0.98535	0.563000	0.77884	CCC		0.418	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			T	43180986	C	T	43180986	3	4	2	1	0	0	0	0	1	0	0	0	16299	623	22	3	904	3	TNFSF11	13	43180986	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		43180986	71988892	32	92											
RB1	5925	broad.mit.edu	37	chr13	49033967	49033967	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagacaggcatttggacCaagtaagaaaatcaagcact	17	7	10	7	0	1	3	1	1	0	2	1	5	1	4	1	2	1	3	1	2	5	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:49033967C>T	ENST00000267163.4	+	20	2242	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	702	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.Q702*(2)|p.Q702K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCATTTGGACCAAGTAAGAAA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		30	Whole gene deletion(15)|Unknown(12)|Substitution - Nonsense(2)|Substitution - Missense(1)	p.0?(15)|p.?(12)|p.Q702*(4)|p.Q702K(2)	bone(10)|breast(6)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM030513	RB1	M		c.(2104-2106)Caa>Taa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						71	64	67					13																	49033967		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033967C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2104C>T	13.37:g.49033967C>T	ENSP00000267163:p.Gln702*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q702*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2270	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	702			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2104C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003253	0.98605	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7392	19.3477	0.94372	0.0:1.0:0.0:0.0	.	.	.	.	X	681;702	.	ENSP00000267163:Q702X	Q	+	1	0	RB1	47931968	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.581000	0.87130	0.585000	0.79938	CAA		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	49033967	C	T	49033967	4	4	2	1	0	0	0	0	0	1	0	0	13098	595	21	3	2182	3	RB1	13	49033967	Nonsense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	5852981	49033967	66135911	33	93											
HCN4	10021	broad.mit.edu	37	chr15	73614906	73614906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagtcagagggggcccCccagaagaggtggctcttgc	8	5	15	13	0	2	3	1	0	1	3	2	3	2	3	4	4	2	2	4	4	1	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr15:73614906C>T	ENST00000261917.3	-	8	4521	c.3528G>A	c.(3526-3528)ggG>ggA	p.G1176G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1176					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGGGCCCCCCAGAAGAGG	0.627																																						uc002avp.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3526-3528)ggG>ggA		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.							16	18	17					15																	73614906		2196	4289	6485	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73614906C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3528G>A	15.37:g.73614906C>T							p.G1176G	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	4522	-			1176					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.3528G>A	CCDS10248.1																																																																																				0.627	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73614906	C	T	73614906	2	4	2	1	0	0	0	0	0	0	0	1	6999	610	22	3		3	HCN4	15	73614906	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		73614906	28916486	34	94											
ACSM5	54988	broad.mit.edu	37	chr16	20439127	20439127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagactctctccaaattcccGataaccaccctctgctgtgt	9	12	5	15	1	2	1	0	0	2	1	5	2	4	1	4	0	2	1	4	0	3	3	rs12922063		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:20439127G>A	ENST00000331849.4	+	7	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	313					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473																																						uc002dhe.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(937-939)ccG>ccA		Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.							228	205	212					16																	20439127		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20439127G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.939G>A	16.37:g.20439127G>A							p.P313P	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			6	1086	+			313					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.939G>A	CCDS10585.1																																																																																				0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20439127	G	A	20439127	2	1	2	1	0	0	0	0	0	0	0	1	187	1045	37	2		2	ACSM5	16	20439127	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		20439127	69915626	35	95											
ITGAD	3681	broad.mit.edu	37	chr16	31409190	31409190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctcctgctgggctcGcgctgggagatcatccagac	5	9	12	15	2	1	2	1	0	0	2	5	3	4	2	4	2	2	3	4	2	0	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:31409190G>A	ENST00000389202.2	+	5	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	129					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642																																						uc010cap.1																			0		p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(385-387)tcG>tcA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							39	34	36					16																	31409190		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409190G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.387G>A	16.37:g.31409190G>A						ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	p.S129S	NM_005353	NP_005344	Q13349	ITAD_HUMAN			4	436	+			129					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.387G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084023	0.08583	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.86	-3.43	0.04810	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	5	0.48119	T	0.1	.	1.0023	0.01479	0.1408:0.2268:0.2866:0.3459	.	.	.	.	H	37	.	ENSP00000323325:R37H	R	+	2	0	ITGAD	31316691	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.048000	0.11944	-0.346000	0.08312	-1.303000	0.01326	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31409190	G	A	31409190	2	1	2	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	10970063	31409190	58945563	36	96											
CETP	1071	broad.mit.edu	37	chr16	57007243	57007243	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgtcctggcttcctccagGgtcatttcatctacaagaat	9	12	8	12	1	3	1	2	0	1	1	6	1	6	1	3	2	2	1	3	2	3	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:57007243G>A	ENST00000566128.1	+	9	823	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	CETP_ENST00000200676.3_Splice_Site_p.G251S|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Intron					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTTCCTCCAGGGTCATTTCAT	0.597																																						uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.e9-1		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							63	64	63					16																	57007243		2198	4300	6498	SO:0001630	splice_region_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57007243G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.556-1G>A	16.37:g.57007243G>A						CETP_uc002ekj.2_Intron	p.G251_splice	NM_000078	NP_000069	P11597	CETP_HUMAN			9	808	+			251						Missense_Mutation	SNP	ENST00000566128.1	37	c.751_splice		.	.	.	.	.	.	.	.	.	.	G	19.38	3.817338	0.70912	.	.	ENSG00000087237	ENST00000200676	T	0.26223	1.75	3.7	3.7	0.42460	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.36672	1.1	0.44155	D	0.996958	D	0.89917	1.0	D	0.97110	1.0	T	0.07009	-1.0795	9	.	.	.	-6.1472	12.157	0.54083	0.0:0.0:1.0:0.0	.	251	P11597	CETP_HUMAN	S	251	ENSP00000200676:G251S	.	G	+	1	0	CETP	55564744	1.000000	0.71417	0.899000	0.35326	0.161000	0.22273	4.732000	0.62029	1.614000	0.50241	0.313000	0.20887	GGT		0.597	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	Missense_Mutation	A	57007243	G	A	57007243	5	1	2	1	0	0	0	0	0	0	1	0	3277	1246	43	3	785	3	CETP	16	57007243	Splice_Site	SNP	G	TCGA-02-0033-01A-01D-1490-08	25598053	57007243	33347510	37	97											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	2	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		7577538	73617672	38	98											
NF1	4763	broad.mit.edu	37	chr17	29586049	29586049	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaccctgttttattgtgtaGatacttcagagtattgccaa	11	16	7	7	0	1	2	1	0	0	2	1	2	1	2	2	0	3	3	2	0	6	9			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:29586049G>A	ENST00000358273.4	+	33	4715		c.e33-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATTGTGTAGATACTTCAGA	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e33-1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							34	30	32					17																	29586049		2202	4298	6500	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29586049G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4333-1G>A	17.37:g.29586049G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	p.I1445_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4716	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1445			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.4333_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657589	0.67586	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26610175	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.306000	0.78905	2.732000	0.93576	0.555000	0.69702	.		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	A	29586049	G	A	29586049	5	1	2	1	0	0	0	0	0	0	1	0	10356	956	33	3	4523	3	NF1	17	29586049	Splice_Site	SNP	G	TCGA-02-0033-01A-01D-1490-08	22008511	29586049	51609161	39	99											
BZRAP1	9256	broad.mit.edu	37	chr17	56382781	56382781	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgtccatgcccccaaaCacagtaatgacatcccctgc	11	8	5	17	1	1	1	1	1	0	0	4	1	3	1	5	0	3	1	5	0	2	1	rs149705380	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:56382781C>A	ENST00000343736.4	-	29	5563	c.5400G>T	c.(5398-5400)gtG>gtT	p.V1800V	BZRAP1_ENST00000268893.6_Silent_p.V1740V|BZRAP1_ENST00000355701.3_Silent_p.V1800V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1800	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCCCAAACACAGTAATGA	0.587																																						uc002ivx.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5398-5400)gtG>gtT		Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.							122	111	114					17																	56382781		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382781C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5400G>T	17.37:g.56382781C>A						BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.V32V|BZRAP1_uc010dcs.3_Silent_p.V1740V|BZRAP1_uc010wnt.2_Silent_p.V1791V	p.V1800V	NM_004758	NP_004749	O95153	RIMB1_HUMAN			28	6271	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1800			SH3 3.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.5400G>T	CCDS11605.1																																																																																				0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		A	56382781	C	A	56382781	2	1	2	1	0	0	0	0	0	0	0	1	1577	465	17	5		5	BZRAP1	17	56382781	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	26796732	56382781	24812429	40	100											
ITGB4	3691	broad.mit.edu	37	chr17	73729694	73729694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggcactgtgtgtgctaCggcgaaggccgctacgaggg	6	7	18	10	5	0	0	0	0	0	0	0	2	0	0	1	4	4	3	1	4	3	2	rs563096686	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:73729694C>T	ENST00000200181.3	+	13	1765	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.Y526Y|ITGB4_ENST00000339591.3_Silent_p.Y526Y|ITGB4_ENST00000449880.2_Silent_p.Y526Y|ITGB4_ENST00000579662.1_Silent_p.Y526Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	526	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGTGTGCTACGGCGAAGGCC	0.642													C|||	2	0.000399361	0	0	5008	,	,		13975	0.002		0	False		,,,				2504	0					uc002jpg.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1576-1578)taC>taT		Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.							85	69	75					17																	73729694		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73729694C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1578C>T	17.37:g.73729694C>T						ITGB4_uc002jph.3_Silent_p.Y526Y|ITGB4_uc010dgo.3_Silent_p.Y526Y|ITGB4_uc002jpi.4_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.3_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	p.Y526Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1765	+	all_cancers(13;1.5e-07)		526			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1578C>T	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			T	73729694	C	T	73729694	2	4	2	1	0	0	0	0	0	0	0	1	7897	547	19	1		1	ITGB4	17	73729694	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	17346913	73729694	7465516	41	101											
C18orf45	85019	broad.mit.edu	37	chr18	20889649	20889649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaagacttaccatccCgtggttgcactggtcaggat	11	10	10	10	1	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	3	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr18:20889649C>T	ENST00000383233.3	-	14	877	c.825G>A	c.(823-825)acG>acA	p.T275T	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Silent_p.T154T|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	275						integral component of membrane (GO:0016021)		p.T275T(1)									CTTACCATCCCGTGGTTGCAC	0.398																																						uc002kuf.3																			1	Substitution - coding silent(1)	p.T275T(1)	lung(1)								c.(823-825)acG>acA		Homo sapiens transmembrane protein 241 (TMEM241), mRNA.							139	129	132					18																	20889649		1938	4143	6081	SO:0001819	synonymous_variant	85019					integral to membrane		g.chr18:20889649C>T	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.825G>A	18.37:g.20889649C>T						TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	p.T275T	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			13	934	-			275					I0J130|Q6ZTS7|Q6ZW41	Silent	SNP	ENST00000383233.3	37	c.825G>A	CCDS11876.2																																																																																				0.398	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		T	20889649	C	T	20889649	2	4	2	1	0	0	0	0	0	0	0	1	1903	639	23	2		2	C18orf45	18	20889649	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		20889649	57187599	42	102											
PEX11G	92960	broad.mit.edu	37	chr19	7542216	7542217	+	Frame_Shift_Ins	INS	-	-	C																															gcccacagcacgccccggggINScagccagtgcacggcgttgg																										TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:7542216_7542217insC	ENST00000221480.1	-	5	605_606	c.597_598insG	c.(595-600)ctgcccfs	p.P200fs	PEX11G_ENST00000593942.1_Frame_Shift_Ins_p.P130fs|PEX11G_ENST00000599519.1_5'UTR	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	200					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ACGCCCCGGGGCAGCCAGTGCA	0.713																																						uc002mgk.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						c.(595-600)ctgcccfs		Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.																																				SO:0001589	frameshift_variant	92960					integral to membrane|peroxisomal membrane		g.chr19:7542216_7542217insC	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.598dupG	19.37:g.7542217_7542217dupC	ENSP00000221480:p.Pro200fs					PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs	p.L199fs	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN			4	606_607	-			199					Q8NDM0	Frame_Shift_Ins	INS	ENST00000221480.1	37	c.597_598insG	CCDS12178.1																																																																																				0.713	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		C	7542217	-	C	7542216	7	5	2	1	0	1	1	0	0	0	0	0	11739	1203	42	0	131	0	PEX11G	19	7542216	Frame_Shift_Ins	INS	-	TCGA-02-0033-01A-01D-1490-08		7542216	51586767	43	103											
ZNF99	7652	broad.mit.edu	37	chr19	22940645	22940645	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttcctaagggctgagAaatggttaaaagccttgcca	12	12	10	7	0	0	1	0	1	0	1	1	2	1	1	3	2	2	3	3	2	5	5			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:22940645A>T	ENST00000596209.1	-	4	2156	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.F598Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGCTGAGAAATGGTTAAA	0.368																																						uc021urt.1																			0		p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)tTc>tAc		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							46	49	48					19																	22940645		2079	4231	6310	SO:0001583	missense	7652							g.chr19:22940645A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2066T>A	19.37:g.22940645A>T	ENSP00000472969:p.Phe689Tyr						p.F689Y	NM_001080409	NP_001073878					3	2221	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2066T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-2.935369	0.00053	.	.	ENSG00000213973	ENST00000397104	T	0.36157	1.27	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	D	0.53151	0.958	B	0.40782	0.34	T	0.11792	-1.0573	9	0.07644	T	0.81	.	0.9335	0.01340	0.4449:0.2409:0.1531:0.1611	.	598	A8MXY4	ZNF99_HUMAN	Y	598	ENSP00000380293:F598Y	ENSP00000380293:F598Y	F	-	2	0	ZNF99	22732485	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.857000	0.04286	-1.442000	0.01955	-0.548000	0.04221	TTC		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22940645	A	T	22940645	3	4	2	1	0	0	0	0	1	0	0	0	18201	246	9	5	1331	5	ZNF99	19	22940645	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	15398429	22940645	36188338	44	104											
KIAA0355	9710	broad.mit.edu	37	chr19	34819037	34819037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatgagtcggccgccgAcaatctgaaacttaagacgg	12	9	10	10	4	1	3	0	2	1	1	2	4	1	3	2	2	1	0	2	2	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:34819037A>G	ENST00000299505.6	+	6	1958	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	362										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCGGCCGCCGACAATCTGAAA	0.512																																						uc002nvd.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1084-1086)gAc>gGc		Homo sapiens KIAA0355 (KIAA0355), mRNA.							52	55	54					19																	34819037		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34819037A>G		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1085A>G	19.37:g.34819037A>G	ENSP00000299505:p.Asp362Gly						p.D362G	NM_014686	NP_055501	O15063	K0355_HUMAN			5	1944	+	Esophageal squamous(110;0.162)		362					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.1085A>G	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834444	0.71373	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	5.55	0.83447	.	0.056995	0.64402	D	0.000002	T	0.40815	0.1132	N	0.14661	0.345	0.54753	D	0.999984	P	0.37330	0.59	B	0.38803	0.282	T	0.48514	-0.9029	9	0.87932	D	0	-21.3501	15.7122	0.77641	1.0:0.0:0.0:0.0	.	362	O15063	K0355_HUMAN	G	362;65	.	ENSP00000299505:D362G	D	+	2	0	KIAA0355	39510877	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.891000	0.92485	2.123000	0.65237	0.445000	0.29226	GAC		0.512	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		G	34819037	A	G	34819037	3	3	2	1	0	0	0	0	1	0	0	0	8170	275	10	4	1103	4	KIAA0355	19	34819037	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	11878392	34819037	24309946	45	105											
DPF1	8193	broad.mit.edu	37	chr19	38713080	38713080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacagcgggcggggtacGtgtaaatctgtcccggggcc	7	7	15	12	4	1	0	0	0	1	0	3	0	3	0	3	5	3	2	3	5	4	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:38713080G>A	ENST00000420980.2	-	3	322	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DPF1_ENST00000355526.4_Missense_Mutation_p.T99M|DPF1_ENST00000416611.1_Missense_Mutation_p.T73M|DPF1_ENST00000412732.1_Missense_Mutation_p.T17M|DPF1_ENST00000456296.1_Missense_Mutation_p.T73M|DPF1_ENST00000414789.1_Missense_Mutation_p.T17M	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	99					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGGGGTACGTGTAAATCTG	0.697																																						uc021uty.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(295-297)aCg>aTg		Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.							95	95	95					19																	38713080		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713080G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.296C>T	19.37:g.38713080G>A	ENSP00000397354:p.Thr99Met					DPF1_uc002ohm.3_Missense_Mutation_p.T99M|DPF1_uc002ohl.3_Missense_Mutation_p.T99M|DPF1_uc002ohn.3_Missense_Mutation_p.T17M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	p.T99M	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	323	-	all_cancers(60;1.24e-06)		99					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.296C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	g	20.9	4.062444	0.76187	.	.	ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365	D;D;D;D;D;T	0.91351	-2.32;-2.83;-2.32;-2.83;-2.78;2.14	3.36	3.36	0.38483	.	0.081264	0.46442	D	0.000294	D	0.94650	0.8275	M	0.78049	2.395	0.49483	D	0.999795	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.87578	0.998;0.83;0.988;0.994;0.99;0.967	D	0.95274	0.8380	10	0.87932	D	0	-10.7018	14.021	0.64555	0.0:0.0:1.0:0.0	.	73;73;72;99;99;99	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.;.;.;.;.;DPF1_HUMAN	M	99;99;17;73;17;73;17;73;17	ENSP00000397354:T99M;ENSP00000412098:T17M;ENSP00000390223:T73M;ENSP00000391884:T17M;ENSP00000411569:T73M;ENSP00000416347:T17M	ENSP00000412098:T17M	T	-	2	0	DPF1	43404920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.045000	0.76585	1.902000	0.55061	0.394000	0.25966	ACG		0.697	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			A	38713080	G	A	38713080	3	1	2	1	0	0	0	0	1	0	0	0	4716	1145	40	1	1018	1	DPF1	19	38713080	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	3894043	38713080	20415903	46	106											
TAF4	6874	broad.mit.edu	37	chr20	60581775	60581775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctggatgaaggccgCggagtcgggggtcagctgtc	5	8	18	10	3	2	1	1	1	1	0	4	3	2	3	1	5	2	3	1	5	1	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr20:60581775C>T	ENST00000252996.4	-	7	2013	c.2014G>A	c.(2014-2016)Gcg>Acg	p.A672T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	672	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGAAGGCCGCGGAGTCGGGG	0.662																																						uc002ybs.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2014-2016)Gcg>Acg		Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.							27	36	33					20																	60581775		2192	4270	6462	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581775C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2014G>A	20.37:g.60581775C>T	ENSP00000252996:p.Ala672Thr						p.A672T	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		6	2014	-	Breast(26;1e-08)		672			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2014G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680459	0.68042	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.43688	0.94;0.94	5.46	5.46	0.80206	TAFH/NHR1 (3);	0.249728	0.39083	N	0.001477	T	0.33789	0.0875	N	0.19112	0.55	0.47737	D	0.999508	B	0.34329	0.449	B	0.38458	0.274	T	0.07290	-1.0780	10	0.15952	T	0.53	-19.5168	19.2974	0.94128	0.0:1.0:0.0:0.0	.	672	O00268	TAF4_HUMAN	T	672;536	ENSP00000252996:A672T;ENSP00000399091:A536T	ENSP00000252996:A672T	A	-	1	0	TAF4	60015170	0.987000	0.35691	0.985000	0.45067	0.994000	0.84299	2.790000	0.47821	2.550000	0.86006	0.563000	0.77884	GCG		0.662	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		T	60581775	C	T	60581775	3	4	2	1	0	0	0	0	1	0	0	0	15523	768	27	1	1279	1	TAF4	20	60581775	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		60581775	2443745	47	107											
KRTAP6-3	337968	broad.mit.edu	37	chr21	31964779	31964779	+	5'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggatgacctcaacaacCaacaccatgtgtggcagcta	14	6	8	13	0	1	1	1	1	0	0	1	2	1	2	4	2	4	2	4	2	5	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr21:31964779C>A	ENST00000391624.1	+	0	21				KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3							intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCTCAACAACCAACACCATGT	0.522																																						uc002yom.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						c.(13-15)acC>acA		Homo sapiens keratin associated protein 6-3 (KRTAP6-3), mRNA.							125	124	125					21																	31964779		2203	4300	6503	SO:0001623	5_prime_UTR_variant	337968							g.chr21:31964779C>A	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"Keratin associated proteins"	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.-7C>A	21.37:g.31964779C>A						KRTAP22-2_uc021wih.1_5'Flank	p.T5T	NM_181605	NP_853636					0	21	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.15C>A																																																																																					0.522	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		A	31964779	C	A	31964779	1	1	2	0	1	0	0	0	0	0	0	0	8571	581	21	5		5	KRTAP6-3	21	31964779	5'UTR	SNP	C	TCGA-02-0033-01A-01D-1490-08		31964779	16165116	48	108											
ZNF280C	55609	broad.mit.edu	37	chrX	129370452	129370452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtttaccttttgacaGcataacttgggaggatgtca	10	15	9	7	0	2	1	2	1	0	0	2	3	2	3	1	2	3	2	1	2	2	7			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chrX:129370452G>A	ENST00000370978.4	-	7	808	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	219	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTTTTGACAGCATAACTTGG	0.328																																						uc004evm.3																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(655-657)Ctg>Ttg		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.							131	113	119					X																	129370452		2203	4300	6503	SO:0001819	synonymous_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370452G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.655C>T	X.37:g.129370452G>A						ZNF280C_uc010nrf.2_Silent_p.L219L	p.L219L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			6	858	-			219			Ser-rich.		A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	c.655C>T	CCDS14622.1																																																																																				0.328	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		A	129370452	G	A	129370452	2	1	2	1	0	0	0	0	0	0	0	1	17813	962	34	3		3	ZNF280C	23	129370452	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		129370452	25900108	49	109											
VPS13D	55187	broad.mit.edu	37	chr1	12418559	12418559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatccagaaggcatgcCgggctggtgtcagggcttct	7	10	14	10	1	3	1	2	0	1	1	4	2	4	1	2	4	1	3	2	4	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:12418559C>T	ENST00000358136.3	+	50	10173	c.10043C>T	c.(10042-10044)cCg>cTg	p.P3348L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3323L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCATGCCGGGCTGGTGT	0.512																																						uc001atv.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10042-10044)cCg>cTg		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							116	114	114					1																	12418559		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12418559C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10043C>T	1.37:g.12418559C>T	ENSP00000350854:p.Pro3348Leu					VPS13D_uc001atw.3_Missense_Mutation_p.P3323L|VPS13D_uc001atx.3_Missense_Mutation_p.P2535L	p.P3348L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	49	10184	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3347						Missense_Mutation	SNP	ENST00000358136.3	37	c.10043C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.462796|5.462796	0.96257|0.96257	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55413|.	0.52;0.52|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Vacuolar protein sorting-associated protein (1);|.	0.048798|.	0.85682|.	D|.	0.000000|.	T|T	0.73225|0.73225	0.3560|0.3560	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.984;0.994|.	P;P|.	0.57679|.	0.571;0.825|.	T|T	0.68070|0.68070	-0.5506|-0.5506	10|5	0.20046|.	T|.	0.44|.	.|.	19.0404|19.0404	0.92997|0.92997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3323;3347|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	L|W	3323;3348|2170	ENSP00000348666:P3323L;ENSP00000350854:P3348L|.	ENSP00000348666:P3323L|.	P|R	+|+	2|1	0|2	VPS13D|VPS13D	12341146|12341146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.512	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12418559	C	T	12418559	3	4	3	1	0	0	0	0	1	0	0	0	17189	652	23	2	10237	2	VPS13D	1	12418559	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		12418559	236832062	1	110											
RPL11	6135	broad.mit.edu	37	chr1	24018320	24018320	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgctctccatcatggcgGtgagtagctgggacctggat	6	11	13	11	1	2	1	1	1	1	0	4	3	3	3	3	4	2	3	3	4	1	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:24018320G>C	ENST00000374550.3	+	1	51		c.e1+1			NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATCATGGCGGTGAGTAGCTG	0.607											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bhk.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.e1+1		Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.							81	89	86					1																	24018320		2203	4300	6503	SO:0001630	splice_region_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24018320G>C	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.6+1G>C	1.37:g.24018320G>C			OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	RPL11_uc001bhl.3_Splice_Site_p.A2_splice	p.A2_splice	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	51	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	2					P25121|P39026|Q8TDH2|Q9Y674	Splice_Site	SNP	ENST00000374550.3	37	c.6_splice	CCDS238.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676592	0.67928	.	.	ENSG00000142676	ENST00000374550	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8839	0.92367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL11	23890907	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	8.374000	0.90133	2.458000	0.83093	0.563000	0.77884	.		0.607	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	Intron	C	24018320	G	C	24018320	5	2	3	1	0	0	0	0	0	0	1	0	13557	1275	44	5	9	5	RPL11	1	24018320	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	11599761	24018320	225232301	2	111											
LEPR	3953	broad.mit.edu	37	chr1	66083830	66083830	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagaagtattatatccatgGtaagtttactatactttagt	14	17	6	4	0	0	1	0	0	0	1	1	1	1	1	1	1	2	3	1	1	10	11			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:66083830G>T	ENST00000349533.6	+	16	2580		c.e16+1		LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATATCCATGGTAAGTTTACT	0.259																																						uc001dci.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.e16+1		Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.							52	58	56					1																	66083830		2201	4292	6493	SO:0001630	splice_region_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66083830G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2395+1G>T	1.37:g.66083830G>T						LEPR_uc001dcg.3_Splice_Site_p.D799_splice|LEPR_uc001dch.3_Splice_Site_p.D799_splice|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Splice_Site_p.D799_splice|LEPR_uc001dcj.3_Splice_Site_p.D799_splice|LEPR_uc001dck.3_Splice_Site_p.D799_splice	p.D799_splice	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2784	+			799			Fibronectin type-III 4.		Q6FHL5	Splice_Site	SNP	ENST00000349533.6	37	c.2395_splice	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790537	0.70337	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEPR	65856418	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.030000	0.76484	2.695000	0.91970	0.650000	0.86243	.		0.259	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	Intron	T	66083830	G	T	66083830	5	4	3	1	0	0	0	0	0	0	1	0	8728	1275	44	5	2450	5	LEPR	1	66083830	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	42065510	66083830	183166791	3	112											
RPL5	6125	broad.mit.edu	37	chr1	93299218	93299218	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagagatatcatttgtcagGtaagttgtattctagacagt	13	14	9	5	0	3	2	2	0	1	2	3	3	3	2	0	1	0	3	0	1	4	7			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:93299218G>C	ENST00000370321.3	+	3	279		c.e3+1			NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CATTTGTCAGGTAAGTTGTAT	0.393																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9	GRCh37	CS086169	RPL5	S		c.e3+1		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							54	60	58					1																	93299218		2203	4300	6503	SO:0001630	splice_region_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93299218G>C	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.189+1G>C	1.37:g.93299218G>C						FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.Q13_splice|RPL5_uc001dpd.3_5'Flank	p.Q63_splice	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	3	267	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	63					Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	c.189_splice	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292172	0.80914	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3893	0.87425	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93071806	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.755000	0.98912	2.088000	0.63022	0.555000	0.69702	.		0.393	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	Intron	C	93299218	G	C	93299218	5	2	3	1	0	0	0	0	0	0	1	0	13597	1275	44	5	200	5	RPL5	1	93299218	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	27215388	93299218	155951403	4	113											
CD101	9398	broad.mit.edu	37	chr1	117552817	117552817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaacactgatgagaaatActatggaagttacagtgcaa	18	8	8	7	0	0	2	0	2	0	1	0	4	0	3	1	1	4	2	1	1	7	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:117552817A>T	ENST00000256652.4	+	2	447	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	CD101_ENST00000369470.1_Missense_Mutation_p.Y130F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	130	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAGAAATACTATGGAAGT	0.463																																						uc010oxb.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(388-390)tAc>tTc		Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.							88	81	83					1																	117552817		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552817A>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.389A>T	1.37:g.117552817A>T	ENSP00000256652:p.Tyr130Phe					CD101_uc009whd.3_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	p.Y130F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			1	447	+			130			Ig-like C2-type 1.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.389A>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	9.754	1.168332	0.21621	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.66638	-0.22;-0.22	5.79	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.086330	0.49916	D	0.000126	T	0.50034	0.1592	L	0.60012	1.86	0.35781	D	0.821659	P	0.34757	0.467	B	0.36719	0.231	T	0.60110	-0.7327	10	0.51188	T	0.08	-9.8682	10.5753	0.45223	0.8563:0.0:0.0:0.1437	.	130	Q93033	IGSF2_HUMAN	F	130	ENSP00000256652:Y130F;ENSP00000358482:Y130F	ENSP00000256652:Y130F	Y	+	2	0	CD101	117354340	1.000000	0.71417	0.604000	0.28916	0.021000	0.10359	3.018000	0.49625	2.207000	0.71202	0.533000	0.62120	TAC		0.463	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		T	117552817	A	T	117552817	3	4	3	1	0	0	0	0	1	0	0	0	2962	391	14	5	395	5	CD101	1	117552817	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	24253599	117552817	131697804	5	114											
NBPF9	400818	broad.mit.edu	37	chr1	144816536	144816536	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaggaatgtgccatcacTtattcaaatagccatggccc	11	10	9	11	0	2	0	2	0	0	0	2	2	2	2	3	3	2	0	3	3	4	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:144816536T>G	ENST00000440491.2	+	5	669	c.669T>G	c.(667-669)acT>acG	p.T223T	NBPF9_ENST00000338347.4_Silent_p.T223T|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	481	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GTGCCATCACTTATTCAAATA	0.463																																						uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1435-1437)acT>acG		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.							106	88	93					1																	144816536		692	1580	2272	SO:0001819	synonymous_variant	400818							g.chr1:144816536T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.669T>G	1.37:g.144816536T>G						NBPF10_uc010oxo.1_Silent_p.T481T|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.T210T|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.T141T	p.T479T	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	11	1631	+	all_hematologic(923;0.032)		481						Silent	SNP	ENST00000440491.2	37	c.1437T>G		.	.	.	.	.	.	.	.	.	.	.	0.639	-0.814063	0.02798	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.723	-1.45	0.08828	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36529	-0.9744	4	.	.	.	.	2.5814	0.04819	0.251:0.0:0.2552:0.4937	.	.	.	.	R	222	.	.	L	+	2	0	NBPF9	143527893	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.616000	0.05591	-1.468000	0.01892	-1.408000	0.01128	CTT		0.463	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		G	144816536	T	G	144816536	2	3	3	1	0	0	0	0	0	0	0	1	10199	1596	56	5		5	NBPF9	1	144816536	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	27263719	144816536	104434085	6	115											
PTPRC	5788	broad.mit.edu	37	chr1	198721383	198721383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttttatctaggaaatCtgtgctcagtactggggaga	9	15	10	7	0	5	1	1	0	4	1	5	3	5	2	0	3	2	2	0	3	4	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:198721383C>T	ENST00000367376.2	+	30	3378	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	PTPRC_ENST00000442510.2_Silent_p.I1071I|PTPRC_ENST00000352140.3_Silent_p.I1021I|PTPRC_ENST00000348564.6_Silent_p.I910I|PTPRC_ENST00000594404.1_Silent_p.I908I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1069	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTAGGAAATCTGTGCTCAGT	0.388																																						uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3205-3207)atC>atT		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.							101	101	101					1																	198721383		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721383C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3207C>T	1.37:g.198721383C>T						PTPRC_uc001gut.1_Silent_p.I908I	p.I1069I	NM_002838	NP_002829	P08575	PTPRC_HUMAN			29	3387	+			1069			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3207C>T																																																																																					0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198721383	C	T	198721383	2	4	3	1	0	0	0	0	0	0	0	1	12797	903	32	3		3	PTPRC	1	198721383	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	53904847	198721383	50529238	7	116											
NAV1	89796	broad.mit.edu	37	chr1	201750337	201750337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaactgaaaaagcccatCagcctgggccaccctggttc	11	6	11	13	0	1	2	1	1	0	1	2	3	1	2	4	3	3	1	4	3	3	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:201750337C>T	ENST00000367296.4	+	5	1983	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	NAV1_ENST00000367302.1_Silent_p.I534I|NAV1_ENST00000367297.4_Silent_p.I521I|NAV1_ENST00000367300.3_Silent_p.I521I|NAV1_ENST00000295624.6_Silent_p.I521I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.I130I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	521					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAAAGCCCATCAGCCTGGGCC	0.577																																						uc021phi.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1561-1563)atC>atT		Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.							71	75	74					1																	201750337		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201750337C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1563C>T	1.37:g.201750337C>T						NAV1_uc001gwu.3_Silent_p.I521I|NAV1_uc001gwv.1_Silent_p.I29I|NAV1_uc001gww.2_Silent_p.I130I|NAV1_uc001gwx.3_Silent_p.I130I|NAV1_uc001gwy.1_5'Flank	p.I521I	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			4	1910	+			521					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.1563C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504022	0.26949	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.3	19.619	0.95647	0.0:1.0:0.0:0.0	.	.	.	.	X	79	.	.	Q	+	1	0	NAV1	200016960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.117000	0.41939	2.717000	0.92951	0.655000	0.94253	CAG		0.577	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201750337	C	T	201750337	2	4	3	1	0	0	0	0	0	0	0	1	10183	816	29	3		3	NAV1	1	201750337	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	3028954	201750337	47500284	8	117											
PCNXL2	80003	broad.mit.edu	37	chr1	233395011	233395011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatgtgtgcttgagaCgcaggtaagctttccacttt	8	13	10	10	1	0	1	0	1	0	1	2	2	2	1	2	1	3	5	2	1	1	4	rs200747953		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:233395011C>T	ENST00000258229.9	-	5	831	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	199						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGCTTGAGACGCAGGTAAGC	0.448																																						uc001hvl.2																			0		p.A199G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(595-597)gcG>gcA		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							111	106	108					1																	233395011		1986	4180	6166	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233395011C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.597G>A	1.37:g.233395011C>T						PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	p.A199A	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			4	832	-		all_cancers(173;0.0347)|Prostate(94;0.137)	199					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.597G>A	CCDS44335.1																																																																																				0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		T	233395011	C	T	233395011	2	4	3	1	0	0	0	0	0	0	0	1	11592	523	19	1		1	PCNXL2	1	233395011	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	31644674	233395011	15855610	9	118											
RYR2	6262	broad.mit.edu	37	chr1	237794836	237794836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccttggaggtggagagTccaaggtaacgtctttgatt	9	12	13	7	2	1	2	0	1	1	1	3	4	3	3	2	4	1	1	2	4	2	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:237794836T>C	ENST00000366574.2	+	42	6867	c.6550T>C	c.(6550-6552)Tcc>Ccc	p.S2184P	RYR2_ENST00000542537.1_Missense_Mutation_p.S2168P|RYR2_ENST00000360064.6_Missense_Mutation_p.S2182P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2184	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTGGAGAGTCCAAGGTAAC	0.393																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6550-6552)Tcc>Ccc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							98	104	102					1																	237794836		2026	4218	6244	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794836T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6550T>C	1.37:g.237794836T>C	ENSP00000355533:p.Ser2184Pro						p.S2184P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6670	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2184			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6550T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166560	0.78339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88741	-2.42;-2.42;-2.42	5.09	3.88	0.44766	Intracellular calcium-release channel (1);	0.195064	0.33631	N	0.004705	D	0.90075	0.6900	L	0.47716	1.5	0.80722	D	1	D	0.64830	0.994	P	0.60117	0.869	D	0.89827	0.3993	10	0.52906	T	0.07	-12.0033	11.0356	0.47799	0.1391:0.0:0.0:0.8609	.	2184	Q92736	RYR2_HUMAN	P	2184;2182;2168	ENSP00000355533:S2184P;ENSP00000353174:S2182P;ENSP00000443798:S2168P	ENSP00000353174:S2182P	S	+	1	0	RYR2	235861459	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.149000	0.71795	2.042000	0.60477	0.528000	0.53228	TCC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237794836	T	C	237794836	3	2	3	1	0	0	0	0	1	0	0	0	13769	1667	58	4	6716	4	RYR2	1	237794836	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	4399825	237794836	11455785	10	119											
SPTBN1	6711	broad.mit.edu	37	chr2	54852086	54852086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcgaaaaccagcGtctggtgtctcaggttctgc	7	11	13	10	2	3	1	1	1	3	0	4	2	3	1	1	3	4	2	1	3	2	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:54852086G>A	ENST00000356805.4	+	11	1609	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R430H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	443					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAAACCAGCGTCTGGTGTCT	0.507																																						uc002rxu.3																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1327-1329)cGt>cAt		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							70	72	71					2																	54852086		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54852086G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1328G>A	2.37:g.54852086G>A	ENSP00000349259:p.Arg443His					SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.3_Missense_Mutation_p.R430H	p.R443H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		10	1577	+			443					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1328G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613389	0.96637	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.51574	0.7;0.7;0.7	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.71206	2.165	0.80722	D	1	P;D	0.56746	0.926;0.977	P;P	0.56398	0.448;0.797	T	0.67193	-0.5732	10	0.62326	D	0.03	.	19.6936	0.96012	0.0:0.0:1.0:0.0	.	430;443	Q01082-3;Q01082	.;SPTB2_HUMAN	H	443;443;430	ENSP00000349259:R443H;ENSP00000374630:R443H;ENSP00000334156:R430H	ENSP00000334156:R430H	R	+	2	0	SPTBN1	54705590	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.807000	0.99171	2.665000	0.90641	0.655000	0.94253	CGT		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54852086	G	A	54852086	3	1	3	1	0	0	0	0	1	0	0	0	15118	1145	40	1	1479	1	SPTBN1	2	54852086	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		54852086	188347287	11	120											
BCL11A	53335	broad.mit.edu	37	chr2	60688379	60688379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggcctcgctgaagtgCtgcatggagctgagcaccat	9	8	14	10	1	0	2	0	2	0	0	1	4	0	4	2	3	4	5	2	3	2	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:60688379C>G	ENST00000335712.6	-	4	1895	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	BCL11A_ENST00000537768.1_Missense_Mutation_p.Q225H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.Q556H|BCL11A_ENST00000358510.4_Missense_Mutation_p.Q522H|BCL11A_ENST00000538214.1_Missense_Mutation_p.Q522H|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	556					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCTGAAGTGCTGCATGGAGC	0.697			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1666-1668)caG>caC		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							24	24	24					2																	60688379		2199	4291	6490	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688379C>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1668G>C	2.37:g.60688379C>G	ENSP00000338774:p.Gln556His					BCL11A_uc002sab.3_Missense_Mutation_p.Q556H|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.Q225H|BCL11A_uc010ypj.2_Missense_Mutation_p.Q522H|BCL11A_uc002sad.1_Missense_Mutation_p.Q404H|BCL11A_uc002saf.1_Missense_Mutation_p.Q522H	p.Q556H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	1896	-			556					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1668G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	8.516	0.867739	0.17250	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09163	3.01;3.29;3.16;3.32;3.23	5.69	5.69	0.88448	.	0.198852	0.34628	N	0.003804	T	0.09642	0.0237	N	0.25485	0.75	0.58432	D	0.999996	B;B;B;B;B	0.14805	0.009;0.001;0.0;0.0;0.011	B;B;B;B;B	0.14023	0.009;0.001;0.002;0.0;0.01	T	0.10730	-1.0617	10	0.46703	T	0.11	-3.0658	14.2812	0.66213	0.1488:0.8512:0.0:0.0	.	522;225;522;556;556	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	556;581;522;225;556;522	ENSP00000349300:Q556H;ENSP00000438303:Q522H;ENSP00000443712:Q225H;ENSP00000338774:Q556H;ENSP00000351307:Q522H	ENSP00000338774:Q556H	Q	-	3	2	BCL11A	60541883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.864000	0.56024	2.690000	0.91761	0.555000	0.69702	CAG		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		G	60688379	C	G	60688379	3	3	3	1	0	0	0	0	1	0	0	0	1363	796	28	5	949	5	BCL11A	2	60688379	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	5836293	60688379	182510994	12	121											
SLC9A4	389015	broad.mit.edu	37	chr2	103095487	103095487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctacttcatgcccacccGgcccttctttgagaacatcg	7	10	8	16	3	2	1	1	1	1	1	3	2	2	1	3	2	3	1	3	2	2	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:103095487G>A	ENST00000295269.4	+	2	903	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	149					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGCCCACCCGGCCCTTCTTT	0.597																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(445-447)cGg>cAg		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.							61	57	58					2																	103095487		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095487G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.446G>A	2.37:g.103095487G>A	ENSP00000295269:p.Arg149Gln						p.R149Q	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	903	+			149					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.446G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998437	0.97184	.	.	ENSG00000180251	ENST00000295269	T	0.18016	2.24	5.74	5.74	0.90152	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.88105	2.93	0.54753	D	0.999988	D	0.65815	0.995	P	0.55011	0.766	T	0.53429	-0.8440	10	0.72032	D	0.01	.	19.9197	0.97082	0.0:0.0:1.0:0.0	.	149	Q6AI14	SL9A4_HUMAN	Q	149	ENSP00000295269:R149Q	ENSP00000295269:R149Q	R	+	2	0	SLC9A4	102461919	1.000000	0.71417	0.768000	0.31515	0.984000	0.73092	7.883000	0.87264	2.702000	0.92279	0.655000	0.94253	CGG		0.597	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		A	103095487	G	A	103095487	3	1	3	1	0	0	0	0	1	0	0	0	14716	1116	39	2	452	2	SLC9A4	2	103095487	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	42407108	103095487	140103886	13	122											
IL1B	3553	broad.mit.edu	37	chr2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttgttgaagacaaatcGcttttccatcttcttctttg	8	19	5	9	1	4	2	0	1	4	1	6	2	5	2	1	0	0	2	1	0	3	8			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGACAAATCGCTTTTCCATC	0.423																																						uc002tii.1																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(640-642)Cga>Tga		Homo sapiens interleukin 1, beta (IL1B), mRNA.	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						191	185	187					2																	113588108		2203	4300	6503	SO:0001587	stop_gained	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588108G>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.640C>T	2.37:g.113588108G>A	ENSP00000263341:p.Arg214*					IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	p.R214*	NM_000576	NP_000567	P01584	IL1B_HUMAN			6	727	-			214					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Nonsense_Mutation	SNP	ENST00000263341.2	37	c.640C>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	IL1B	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA		0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		A	113588108	G	A	113588108	4	1	3	1	0	0	0	0	0	1	0	0	7651	1095	38	1	173	1	IL1B	2	113588108	Nonsense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	10492621	113588108	129611265	14	123											
TUBA4A	7277	broad.mit.edu	37	chr2	220116339	220116339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctccttgccaatggtaTagtgaccacgggcatagttg	9	12	11	9	1	1	2	0	2	1	0	2	2	1	2	3	2	1	3	3	2	4	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220116339T>C	ENST00000248437.4	-	3	496	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	TUBA4A_ENST00000392088.2_Missense_Mutation_p.Y93C|TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	108					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GCCAATGGTATAGTGACCACG	0.532																																						uc002vkt.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(322-324)tAt>tGt		Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.							128	110	116					2																	220116339		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116339T>C	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.323A>G	2.37:g.220116339T>C	ENSP00000248437:p.Tyr108Cys					TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	p.Y108C	NM_006000	NP_005991	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	381	-		Renal(207;0.0474)	108					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.323A>G	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463439	0.63513	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	D	0.87079	0.6088	H	0.96916	3.905	0.80722	D	1	P	0.37781	0.608	P	0.51193	0.662	D	0.90417	0.4414	10	0.87932	D	0	.	14.9812	0.71313	0.0:0.0:0.0:1.0	.	108	P68366	TBA4A_HUMAN	C	108;93;93;131;93;110	ENSP00000248437:Y108C;ENSP00000375938:Y93C;ENSP00000408194:Y93C;ENSP00000416992:Y131C;ENSP00000396061:Y93C;ENSP00000404740:Y110C	ENSP00000248437:Y108C	Y	-	2	0	TUBA4A	219824583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.779000	0.85648	2.132000	0.65825	0.533000	0.62120	TAT		0.532	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		C	220116339	T	C	220116339	3	2	3	1	0	0	0	0	1	0	0	0	16746	1406	49	4	1031	4	TUBA4A	2	220116339	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	106528231	220116339	23083034	15	124											
DES	1674	broad.mit.edu	37	chr2	220286104	220286104	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgggaattggaggaccgaTttgccagtgaggccagtggc	8	8	17	8	2	0	1	0	1	0	0	0	5	0	4	3	5	2	0	3	5	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220286104T>A	ENST00000373960.3	+	6	1152	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	356	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.F356I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGACCGATTTGCCAGTGA	0.587																																						uc002vll.3																			1	Substitution - Missense(1)	p.F356I(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(1066-1068)Ttt>Att		Homo sapiens desmin (DES), mRNA.							60	60	60					2																	220286104		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286104T>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1066T>A	2.37:g.220286104T>A	ENSP00000363071:p.Phe356Ile						p.F356I	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	5	1152	+		Renal(207;0.0183)	356			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1066T>A	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096787	0.76870	.	.	ENSG00000175084	ENST00000373960	D	0.95724	-3.79	5.12	5.12	0.69794	Filament (1);	0.000000	0.51477	D	0.000081	D	0.95730	0.8611	M	0.79805	2.47	0.35069	D	0.762265	P	0.41848	0.763	P	0.46208	0.507	D	0.97350	0.9963	10	0.22109	T	0.4	.	14.7669	0.69646	0.0:0.0:0.0:1.0	.	356	P17661	DESM_HUMAN	I	356	ENSP00000363071:F356I	ENSP00000363071:F356I	F	+	1	0	DES	219994348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.608000	0.54109	2.139000	0.66308	0.533000	0.62120	TTT		0.587	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		A	220286104	T	A	220286104	3	1	3	1	0	0	0	0	1	0	0	0	4449	1493	52	5	1088	5	DES	2	220286104	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	169765	220286104	22913269	16	125											
COL4A4	1286	broad.mit.edu	37	chr2	227886828	227886828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcctctcatgcctggCgccccaggaaggcctgggat	5	9	13	14	1	2	0	1	0	2	0	4	2	3	2	5	5	1	0	5	5	1	0	rs75398993	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:227886828C>T	ENST00000396625.3	-	44	4359	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_ENST00000329662.7_Silent_p.A1381A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1384	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													C|||	11	0.00219649	0.0083	0	5008	,	,		13441	0		0	False		,,,				2504	0					uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4150-4152)gcG>gcA		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.		C		28,3740		0,28,1856	128	135	133		4152	-7.2	0.7	2	dbSNP_132	133	0,8200		0,0,4100	no	coding-synonymous	COL4A4	NM_000092.4		0,28,5956	TT,TC,CC		0.0,0.7431,0.234		1384/1691	227886828	28,11940	1884	4100	5984	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886828C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4152G>A	2.37:g.227886828C>T						COL4A4_uc021vxs.1_Silent_p.A1381A	p.A1384A	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	42	4253	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1384			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.4152G>A	CCDS42828.1																																																																																				0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227886828	C	T	227886828	2	4	3	1	0	0	0	0	0	0	0	1	3693	755	27	1		1	COL4A4	2	227886828	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	7600724	227886828	15312545	17	126											
ZNF385D	79750	broad.mit.edu	37	chr3	21462765	21462765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgggtccaggagctggccGcaggagtgccggaggaagcg	9	4	19	9	3	0	0	0	0	0	0	1	4	1	4	3	6	3	2	3	6	2	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:21462765G>A	ENST00000281523.2	-	8	1647	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	377						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R377W(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCTGGCCGCAGGAGTGCC	0.532																																						uc003cce.3																			1	Substitution - Missense(1)	p.R377W(2)	large_intestine(1)	NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1129-1131)Cgg>Tgg		Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							50	48	49					3																	21462765		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462765G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1129C>T	3.37:g.21462765G>A	ENSP00000281523:p.Arg377Trp						p.R377W	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			7	1537	-			377						Missense_Mutation	SNP	ENST00000281523.2	37	c.1129C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629049	0.67015	.	.	ENSG00000151789	ENST00000281523	T	0.51817	0.69	5.95	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.56199	1.76	0.47374	D	0.999406	D	0.89917	1.0	D	0.71184	0.972	T	0.65187	-0.6229	10	0.87932	D	0	-37.636	15.3696	0.74551	0.0:0.0:0.6371:0.3629	.	377	Q9H6B1	Z385D_HUMAN	W	377	ENSP00000281523:R377W	ENSP00000281523:R377W	R	-	1	2	ZNF385D	21437769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.780000	0.47742	0.352000	0.24053	0.557000	0.71058	CGG		0.532	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		A	21462765	G	A	21462765	3	1	3	1	0	0	0	0	1	0	0	0	17875	1086	38	1	62	1	ZNF385D	3	21462765	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		21462765	176559665	18	127											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	13	13	8	7	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	6	6	rs121913284		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		44	Substitution - Missense(44)	p.N345K(89)|p.V344G(5)|p.V344A(3)|p.N345I(3)|p.V344M(3)|p.N345D(2)|p.N345S(1)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aaT>aaA		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							67	66	66					3																	178921553		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921553T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		4	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1035T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178921553	T	A	178921553	3	1	3	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	157458788	178921553	19100877	19	128											
PDGFRA	5156	broad.mit.edu	37	chr4	55152112	55152113	+	In_Frame_Ins	INS	-	-	TTT																															acatcatgcatgattcgaacINStatgtgtcgaaaggcagtgt																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:55152112_55152113insTTT	ENST00000257290.5	+	18	2875_2876	c.2544_2545insTTT	c.(2545-2547)tat>TTTtat	p.848_849insF	FIP1L1_ENST00000507166.1_In_Frame_Ins_p.608_609insF	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in a GIST sample; constitutively activated kinase).|Y -> C (in GIST). {ECO:0000269|PubMed:15928335}.|Y -> S (in a hypereosinophilic syndrome sample; constitutively activated kinase). {ECO:0000269|PubMed:21224473}.		adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.N848K(1)|p.Y849D(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATGATTCGAACTATGTGTCGAA	0.495			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		2	Substitution - Missense(2)	p.(814_854)?(57)|p.M844_S847del(9)|p.I843_S847>T(7)|p.Y849C(4)|p.H845_N848>P(3)|p.Y849D(2)|p.M844_S847>P(2)|p.Y849S(2)|p.N848K(2)|p.S847fs*1(1)|p.H845_N848del(1)|p.I843_S847>H(1)|p.D842_S847>EA(1)|p.I843_S847>L(1)|p.D842_S847>RV(1)|p.I843_S847>I(1)	soft_tissue(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2542-2547)insTTT		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001652	inframe_insertion	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152112_55152113insTTT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	Exception_encountered	4.37:g.55152112_55152113insTTT	ENSP00000257290:p.Asn848_Tyr849insPhe	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_In_Frame_Ins_p.608_609insF	p.848_849insF	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2875_2876	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		848			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	In_Frame_Ins	INS	ENST00000257290.5	37	c.2544_2545insTTT	CCDS3495.1																																																																																				0.495	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		TTT	55152113	-	TTT	55152112	7	5	3	1	0	1	1	0	0	0	0	0	11661	564	20	0	2610	0	PDGFRA	4	55152112	In_Frame_Ins	INS	-	TCGA-02-0047-01A-01D-1490-08		55152112	136002164	20	129											
EPHA5	2044	broad.mit.edu	37	chr4	66467624	66467624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatgcaagcaccaacatcTtgaaaagcaagataaaatcc	19	6	6	10	0	1	2	0	1	1	1	2	2	2	2	2	0	4	4	2	0	8	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:66467624T>A	ENST00000273854.3	-	3	1245	c.645A>T	c.(643-645)caA>caT	p.Q215H	EPHA5_ENST00000432638.2_Missense_Mutation_p.Q215H|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q215H|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q215H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	215	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCAACATCTTGAAAAGCAA	0.428										TSP Lung(17;0.13)																												uc003hcy.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(643-645)caA>caT		Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.							76	72	73					4																	66467624		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467624T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.645A>T	4.37:g.66467624T>A	ENSP00000273854:p.Gln215His	TSP Lung(17;0.13)				EPHA5_uc003hcx.3_Missense_Mutation_p.Q146H|EPHA5_uc003hcz.3_Missense_Mutation_p.Q215H|EPHA5_uc011cah.2_Missense_Mutation_p.Q215H|EPHA5_uc011cai.2_Missense_Mutation_p.Q215H|EPHA5_uc003hda.2_Missense_Mutation_p.Q215H	p.Q215H	NM_004439	NP_004430	P54756	EPHA5_HUMAN			2	838	-			215					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.645A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719551	0.48728	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.83	4.65	0.58169	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000015	T	0.20210	0.0486	M	0.82323	2.585	0.50039	D	0.999842	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.00294	-1.1840	10	0.62326	D	0.03	.	8.0071	0.30332	0.0:0.1989:0.0:0.8011	.	215;215;215;215	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	215	ENSP00000273854:Q215H;ENSP00000389208:Q215H;ENSP00000346899:Q215H;ENSP00000427638:Q215H	ENSP00000273854:Q215H	Q	-	3	2	EPHA5	66150219	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.972000	0.40540	1.036000	0.39998	-0.256000	0.11100	CAA		0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		A	66467624	T	A	66467624	3	1	3	1	0	0	0	0	1	0	0	0	5170	1606	56	5	2532	5	EPHA5	4	66467624	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	11315512	66467624	124686652	21	130											
FGA	2243	broad.mit.edu	37	chr4	155507575	155507575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttccagagctcccagAgttccagcttccagtacttc	8	11	7	15	0	0	2	0	0	0	2	6	2	5	2	5	0	3	5	5	0	1	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:155507575A>G	ENST00000302053.3	-	5	1084	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	FGA_ENST00000403106.3_Missense_Mutation_p.S336P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	336					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGCTCCCAGAGTTCCAGCTT	0.567																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1006-1008)Tct>Cct		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						90	97	94					4																	155507575		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507575A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1006T>C	4.37:g.155507575A>G	ENSP00000306361:p.Ser336Pro					FGA_uc003ioe.1_Missense_Mutation_p.S336P|FGA_uc003iof.1_Intron	p.S336P	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	1064	-	all_hematologic(180;0.215)	Renal(120;0.0458)	336					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1006T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	0.671	-0.801795	0.02841	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.72505	-0.66;-0.66	5.25	-4.38	0.03622	.	3.081050	0.01329	N	0.011194	T	0.31040	0.0784	N	0.00525	-1.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50056	-0.8872	10	0.06099	T	0.92	.	5.6958	0.17855	0.5369:0.0:0.2304:0.2327	.	336;336	P02671-2;P02671	.;FIBA_HUMAN	P	336	ENSP00000306361:S336P;ENSP00000385981:S336P	ENSP00000306361:S336P	S	-	1	0	FGA	155727025	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-1.294000	0.02767	-0.671000	0.05274	-1.142000	0.01873	TCT		0.567	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		G	155507575	A	G	155507575	3	3	3	1	0	0	0	0	1	0	0	0	5830	304	11	4	1646	4	FGA	4	155507575	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	89039951	155507575	35646701	22	131											
FBXO8	26269	broad.mit.edu	37	chr4	175180976	175180976	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaagtggatttgcacaaCctataaaatcagagaaaatg	17	8	7	9	0	1	1	1	0	0	1	1	3	1	2	3	1	2	1	3	1	7	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:175180976C>A	ENST00000393674.2	-	3	1192	c.330G>T	c.(328-330)ggG>ggT	p.G110G	FBXO8_ENST00000503293.1_Splice_Site_p.G69G	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	110	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATTTGCACAACCTATAAAATC	0.318																																						uc003itp.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.e3-1		Homo sapiens F-box protein 8 (FBXO8), mRNA.							80	90	86					4																	175180976		2203	4300	6503	SO:0001630	splice_region_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175180976C>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.330-1G>T	4.37:g.175180976C>A						FBXO8_uc003itq.3_Splice_Site_p.G69_splice	p.G110_splice	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	3	1180	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	110			F-box.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.330_splice	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577951	0.28180	.	.	ENSG00000164117	ENST00000296517	.	.	.	5.3	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57653	-0.7774	6	0.54805	T	0.06	.	7.121	0.25444	0.0:0.6683:0.1243:0.2073	.	.	.	.	V	24	.	ENSP00000296517:G24V	G	-	2	0	FBXO8	175417551	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.234000	0.32660	0.317000	0.23160	0.650000	0.86243	GGT		0.318	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	Silent	A	175180976	C	A	175180976	5	1	3	1	0	0	0	0	0	0	1	0	5761	521	18	5	645	5	FBXO8	4	175180976	Splice_Site	SNP	C	TCGA-02-0047-01A-01D-1490-08	19673401	175180976	15973300	23	132											
WWC2	80014	broad.mit.edu	37	chr4	184201980	184201980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagctgagttgttagctgtgGaacaagaattagcacaagaa	15	9	11	6	0	0	3	0	1	0	2	0	4	0	4	0	1	4	5	0	1	7	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:184201980G>C	ENST00000403733.3	+	17	2813	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q	WWC2_ENST00000504005.1_Missense_Mutation_p.E554Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E872Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E823Q|WWC2_ENST00000508747.1_5'Flank	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	872					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTAGCTGTGgaacaagaatt	0.403																																						uc010irx.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2614-2616)Gaa>Caa		Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.							85	71	76					4																	184201980		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184201980G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2614G>C	4.37:g.184201980G>C	ENSP00000384222:p.Glu872Gln					WWC2_uc003ivk.4_Missense_Mutation_p.E667Q|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E554Q|WWC2_uc003ivn.4_Missense_Mutation_p.E387Q|WWC2_uc010irz.3_Missense_Mutation_p.E189Q|WWC2_uc003ivo.4_5'Flank	p.E872Q	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	16	2796	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	872					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2614G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707220	0.68615	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.09350	3.16;3.13;2.99;2.99	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000012	T	0.20170	0.0485	M	0.72894	2.215	0.80722	D	1	P;P;P	0.46512	0.879;0.763;0.785	B;P;B	0.45794	0.408;0.493;0.295	T	0.02553	-1.1142	10	0.52906	T	0.07	-22.6126	16.8881	0.86080	0.0:0.0:1.0:0.0	.	872;872;823	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	Q	872;823;872;554	ENSP00000384222:E872Q;ENSP00000425054:E823Q;ENSP00000398577:E872Q;ENSP00000427569:E554Q	ENSP00000384222:E872Q	E	+	1	0	WWC2	184438974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.537000	0.60643	2.328000	0.79073	0.557000	0.71058	GAA		0.403	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		C	184201980	G	C	184201980	3	2	3	1	0	0	0	0	1	0	0	0	17409	1175	41	5	2680	5	WWC2	4	184201980	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	9021004	184201980	6952296	24	133											
GFM2	84340	broad.mit.edu	37	chr5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaactgggatcttcacGctgaagacatttcaacgcat	12	12	7	10	2	4	2	3	1	1	1	4	3	4	3	0	1	2	2	0	1	3	3	rs139234343	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74028894G>A	ENST00000296805.3	-	16	1997	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	GFM2_ENST00000509430.1_Missense_Mutation_p.R514C|GFM2_ENST00000345239.2_Missense_Mutation_p.R467C|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348													G|||	2	0.000399361	8e-04	0	5008	,	,		14113	0		0.001	False		,,,				2504	0					uc010izj.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(1636-1638)Cgt>Tgt		Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	117	119		1540,1399	5.1	1	5	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	514/780,467/733	74028894	1,13005	2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74028894G>A	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1540C>T	5.37:g.74028894G>A	ENSP00000296805:p.Arg514Cys					GFM2_uc003kdh.1_Missense_Mutation_p.R514C|GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izk.1_Non-coding_Transcript	p.R546C	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	16	1962	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	514						Missense_Mutation	SNP	ENST00000296805.3	37	c.1636C>T	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076829	0.76415	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.73469	-0.75;-0.75;-0.75	5.07	5.07	0.68467	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.962	D	0.89490	0.3756	10	0.87932	D	0	-11.3993	18.4471	0.90688	0.0:0.0:1.0:0.0	.	514;467;514	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	C	514;467;514;514	ENSP00000296805:R514C;ENSP00000296804:R467C;ENSP00000427004:R514C	ENSP00000296805:R514C	R	-	1	0	GFM2	74064650	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.769000	0.68865	2.357000	0.79964	0.557000	0.71058	CGT		0.348	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		A	74028894	G	A	74028894	3	1	3	1	0	0	0	0	1	0	0	0	6342	1087	38	1	823	1	GFM2	5	74028894	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		74028894	106886366	25	134											
GFM2	84340	broad.mit.edu	37	chr5	74041590	74041590	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggctttctctcaaagtcTtttccatcatttgaattgca	9	16	7	9	0	4	1	2	1	2	0	6	1	5	1	1	2	1	2	1	2	2	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74041590T>C	ENST00000296805.3	-	10	1219	c.762A>G	c.(760-762)aaA>aaG	p.K254K	GFM2_ENST00000509430.1_Silent_p.K254K|GFM2_ENST00000345239.2_Silent_p.K254K|GFM2_ENST00000427854.2_Silent_p.K254K	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTCAAAGTCTTTTCCATCAT	0.358																																						uc010izj.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(856-858)aaA>aaG		Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							91	86	88					5																	74041590		2202	4300	6502	SO:0001819	synonymous_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74041590T>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.762A>G	5.37:g.74041590T>C						GFM2_uc003kdh.1_Silent_p.K254K|GFM2_uc003kdi.1_Silent_p.K254K|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.K254K|GFM2_uc010izl.1_Silent_p.K212K	p.K286K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	10	1184	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	254						Silent	SNP	ENST00000296805.3	37	c.858A>G	CCDS4023.1																																																																																				0.358	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		C	74041590	T	C	74041590	2	2	3	1	0	0	0	0	0	0	0	1	6342	1606	56	4		4	GFM2	5	74041590	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	12696	74041590	106873670	26	135											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774103	140774103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacggttccactggcGtggagctggcgccccgctcc	5	6	13	17	4	0	1	0	0	0	1	2	2	2	2	5	4	1	3	5	4	0	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:140774103G>A	ENST00000398604.2	+	1	1723	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTGGCGTGGAGCTGGC	0.657																																						uc003lkd.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1723-1725)Gtg>Atg		Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.							85	99	94					5																	140774103		2202	4300	6502	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774103G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1723G>A	5.37:g.140774103G>A	ENSP00000381605:p.Val575Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V575M|PCDHGC5_uc003lkc.2_Intron	p.V575M	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2621	+			577			Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1723G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.905	1.207831	0.22205	.	.	ENSG00000253767	ENST00000398604	T	0.15952	2.38	5.06	4.2	0.49525	Cadherin-like (1);	0.000000	0.28624	U	0.014693	T	0.16171	0.0389	L	0.48986	1.54	0.20821	N	0.999845	D;P	0.54964	0.969;0.934	B;B	0.44108	0.223;0.441	T	0.20371	-1.0277	10	0.62326	D	0.03	.	5.1311	0.14911	0.0783:0.1471:0.6221:0.1525	.	575;575	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	575	ENSP00000381605:V575M	ENSP00000381605:V575M	V	+	1	0	PCDHGA8	140754287	0.000000	0.05858	0.191000	0.23289	0.598000	0.36846	0.344000	0.19962	1.157000	0.42530	-0.121000	0.15023	GTG		0.657	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		A	140774103	G	A	140774103	3	1	3	1	0	0	0	0	1	0	0	0	11560	1145	40	1	1725	1	PCDHGA8	5	140774103	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	66732513	140774103	40141157	27	136											
ADAMTS2	9509	broad.mit.edu	37	chr5	178556976	178556976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcccatggtctgcagcGtctcccggccgtcctcgtct	2	9	14	16	4	3	0	0	0	3	0	6	0	4	0	4	4	2	1	4	4	0	0	rs370350117		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178556976G>A	ENST00000251582.7	-	16	2515	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	805	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTCTGCAGCGTCTCCCGGCC	0.607													G|||	1	0.000199681	0	0	5008	,	,		16709	0		0	False		,,,				2504	0.001					uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2413-2415)aCg>aTg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.		G	MET/THR	0,4406		0,0,2203	106	101	103		2414	4.2	1	5		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS2	NM_014244.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	805/1212	178556976	1,13005	2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178556976G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2414C>T	5.37:g.178556976G>A	ENSP00000251582:p.Thr805Met						p.T805M	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	15	2516	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	805			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2414C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308136	0.60305	0.0	1.16E-4	ENSG00000087116	ENST00000251582	T	0.53423	0.62	5.05	4.17	0.49024	ADAM-TS Spacer 1 (1);	0.109185	0.40222	N	0.001145	T	0.47563	0.1452	L	0.61218	1.895	0.80722	D	1	D	0.53151	0.958	P	0.44477	0.451	T	0.53479	-0.8433	10	0.54805	T	0.06	.	12.3873	0.55338	0.0822:0.0:0.9178:0.0	.	805	O95450	ATS2_HUMAN	M	805	ENSP00000251582:T805M	ENSP00000251582:T805M	T	-	2	0	ADAMTS2	178489582	0.998000	0.40836	0.999000	0.59377	0.931000	0.56810	2.694000	0.47035	2.519000	0.84933	0.456000	0.33151	ACG		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178556976	G	A	178556976	3	1	3	1	0	0	0	0	1	0	0	0	265	1145	40	1	1249	1	ADAMTS2	5	178556976	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	37782873	178556976	2358284	28	137											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaggaagatggcgtgatCgtggtattcatcgtggcccg	7	11	16	7	4	1	3	1	2	0	1	3	4	1	4	1	4	0	1	1	4	2	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178585775C>T	ENST00000251582.7	-	6	1182	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D361N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1081-1083)Gat>Aat		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							159	137	144					5																	178585775		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585775C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1081G>A	5.37:g.178585775C>T	ENSP00000251582:p.Asp361Asn					ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	5	1183	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	361			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1081G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040374	0.93630	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.91945	-2.94;-2.94	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000017	D	0.97284	0.9112	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97919	1.0313	10	0.87932	D	0	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	361;361	O95450-2;O95450	.;ATS2_HUMAN	N	361	ENSP00000251582:D361N;ENSP00000274609:D361N	ENSP00000251582:D361N	D	-	1	0	ADAMTS2	178518381	1.000000	0.71417	0.983000	0.44433	0.596000	0.36781	7.669000	0.83911	2.695000	0.91970	0.650000	0.86243	GAT		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178585775	C	T	178585775	3	4	3	1	0	0	0	0	1	0	0	0	265	884	31	2	2697	2	ADAMTS2	5	178585775	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	28799	178585775	2329485	29	138											
TREML2	79865	broad.mit.edu	37	chr6	41162491	41162491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcatcagggcctgaggtagGggcttggccagttgtgacag	7	8	18	8	0	1	2	1	2	0	0	1	2	1	2	2	6	0	4	2	6	1	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:41162491G>A	ENST00000483722.1	-	3	642	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	153					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGAGGTAGGGGCTTGGCCA	0.542																																						uc010jxm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(457-459)Cct>Tct		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							131	115	120					6																	41162491		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162491G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.457C>T	6.37:g.41162491G>A	ENSP00000418767:p.Pro153Ser						p.P153S	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			2	636	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		153					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.457C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768479	0.15983	.	.	ENSG00000112195	ENST00000483722	T	0.06687	3.27	4.84	-0.156	0.13391	.	1.053590	0.07459	N	0.900201	T	0.01835	0.0058	M	0.61703	1.905	0.09310	N	1	B	0.31485	0.325	B	0.21917	0.037	T	0.47289	-0.9129	10	0.08837	T	0.75	-2.0634	3.803	0.08765	0.3625:0.0:0.4759:0.1616	.	153	Q5T2D2	TRML2_HUMAN	S	153	ENSP00000418767:P153S	ENSP00000418767:P153S	P	-	1	0	TREML2	41270469	0.005000	0.15991	0.000000	0.03702	0.109000	0.19521	0.627000	0.24506	-0.151000	0.11176	-0.136000	0.14681	CCT		0.542	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41162491	G	A	41162491	3	1	3	1	0	0	0	0	1	0	0	0	16470	1232	43	3	520	3	TREML2	6	41162491	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		41162491	129952576	30	139											
DEFB110	245913	broad.mit.edu	37	chr6	49976918	49976918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaacatcatcacaaaacGttttacatattcctctcact	14	13	1	13	1	4	0	4	0	1	0	6	0	5	0	1	0	3	1	1	0	5	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:49976918G>T	ENST00000393660.2	-	2	121	c.122C>A	c.(121-123)aCg>aAg	p.T41K		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCACAAAACGTTTTACATAT	0.333																																						uc011dwr.2																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(121-123)aCg>aAg		Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.							189	175	179					6																	49976918		1873	4108	5981	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49976918G>T	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000393660.2:c.122C>A	6.37:g.49976918G>T	ENSP00000377270:p.Thr41Lys						p.T41K	NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN			1	168	-	Lung NSC(77;0.042)		44					Q30KR0	Missense_Mutation	SNP	ENST00000393660.2	37	c.122C>A	CCDS43473.1	.	.	.	.	.	.	.	.	.	.	g	14.56	2.570762	0.45798	.	.	ENSG00000203970	ENST00000393660	T	0.08193	3.12	4.9	4.9	0.64082	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.80722	D	1	D	0.56746	0.977	P	0.52386	0.697	T	0.04693	-1.0933	7	.	.	.	.	13.4692	0.61273	0.0:0.0:1.0:0.0	.	41	Q30KQ9-2	.	K	41	ENSP00000377270:T41K	.	T	-	2	0	DEFB110	50084877	0.985000	0.35326	0.984000	0.44739	0.752000	0.42762	2.592000	0.46171	2.559000	0.86315	0.580000	0.79431	ACG		0.333	DEFB110-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359663.1	NM_001037728		T	49976918	G	T	49976918	3	4	3	1	0	0	0	0	1	0	0	0	4400	1145	40	5	68	5	DEFB110	6	49976918	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	8814427	49976918	121138149	31	140											
FAM83B	222584	broad.mit.edu	37	chr6	54791195	54791195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttagtgatggatatattTacagatgtggacattttcaa	12	16	9	4	0	1	2	1	1	0	1	1	4	1	4	0	2	1	1	0	2	5	8			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:54791195T>C	ENST00000306858.7	+	3	587	c.471T>C	c.(469-471)ttT>ttC	p.F157F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	157										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGATATATTTACAGATGTGG	0.299																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(469-471)ttT>ttC		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							87	92	90					6																	54791195		2203	4298	6501	SO:0001819	synonymous_variant	222584							g.chr6:54791195T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.471T>C	6.37:g.54791195T>C							p.F157F	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	587	+	Lung NSC(77;0.0178)|Renal(3;0.122)		157					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.471T>C	CCDS34479.1																																																																																				0.299	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		C	54791195	T	C	54791195	2	2	3	1	0	0	0	0	0	0	0	1	5634	1751	61	4		4	FAM83B	6	54791195	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	4814277	54791195	116323872	32	141											
LAMA2	3908	broad.mit.edu	37	chr6	129371087	129371087	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccctgctgtcctgaatcTtgcttctaatgctcttatca	7	17	5	12	0	4	1	1	1	3	0	6	1	6	1	2	0	3	3	2	0	3	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:129371087T>A	ENST00000421865.2	+	2	186	c.137T>A	c.(136-138)cTt>cAt	p.L46H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	46	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCCTGAATCTTGCTTCTAAT	0.403																																						uc021zfb.1																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(136-138)cTt>cAt		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							189	173	178					6																	129371087		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371087T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.137T>A	6.37:g.129371087T>A	ENSP00000400365:p.Leu46His					LAMA2_uc003qbn.3_Missense_Mutation_p.L46H|LAMA2_uc003qbo.3_Missense_Mutation_p.L46H	p.L46H	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	1	242	+			46			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.137T>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.639349	0.87760	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.80214	-1.35	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000007	D	0.91405	0.7288	H	0.94847	3.59	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93842	0.7137	10	0.87932	D	0	.	15.4879	0.75582	0.0:0.0:0.0:1.0	.	46;46	A6NF00;P24043	.;LAMA2_HUMAN	H	46	ENSP00000400365:L46H	ENSP00000346769:L46H	L	+	2	0	LAMA2	129412780	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.649000	0.83500	2.064000	0.61679	0.459000	0.35465	CTT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129371087	T	A	129371087	3	1	3	1	0	0	0	0	1	0	0	0	8606	1609	56	5	143	5	LAMA2	6	129371087	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	74579892	129371087	41743980	33	142											
SASH1	23328	broad.mit.edu	37	chr6	148865365	148865365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatcgcagcctctggtcGcggcctgtcaccccctcagt	5	9	9	18	3	4	0	3	0	1	0	6	0	4	0	4	2	1	1	4	2	1	0	rs145411864		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:148865365G>A	ENST00000367467.3	+	18	3234	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	920					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCTCTGGTCGCGGCCTGTCA	0.517																																						uc003qme.1																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2758-2760)cGc>cAc		Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	70	79	76		2759	-2.9	0	6	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	missense	SASH1	NM_015278.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	920/1248	148865365	3,13003	2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865365G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2759G>A	6.37:g.148865365G>A	ENSP00000356437:p.Arg920His					SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	p.R920H	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	17	3234	+		Ovarian(120;0.0169)	920					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2759G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	0.968	-0.700958	0.03255	2.27E-4	2.33E-4	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.36520	1.25	5.23	-2.89	0.05665	.	0.975914	0.08447	N	0.944602	T	0.04634	0.0126	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38415	-0.9662	10	0.35671	T	0.21	0.3959	5.0929	0.14718	0.4052:0.0:0.3395:0.2553	.	901;920	Q6P4R9;O94885	.;SASH1_HUMAN	H	920;681;330	ENSP00000356437:R920H	ENSP00000356437:R920H	R	+	2	0	SASH1	148907058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.509000	0.22707	-0.412000	0.07519	-0.259000	0.10710	CGC		0.517	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		A	148865365	G	A	148865365	3	1	3	1	0	0	0	0	1	0	0	0	13848	1087	38	1	2829	1	SASH1	6	148865365	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	19494278	148865365	22249702	34	143											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152163	151152163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacagccccaaaacagaagGgcaggaggagatgactccct	15	3	12	11	0	0	3	0	1	0	2	1	6	1	4	3	3	3	1	3	3	4	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:151152163G>A	ENST00000358517.2	+	15	2127	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G639E			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	639							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAACAGAAGGGCAGGAGGAG	0.478																																						uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2092-2094)gGg>gAg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							48	42	44					6																	151152163		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152163G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1916G>A	6.37:g.151152163G>A	ENSP00000351318:p.Gly639Glu					PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc003qny.1_Missense_Mutation_p.G639E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	p.G698E	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	14	2181	+			639					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2093G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	8.312	0.822295	0.16678	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.57436	0.4;0.4	5.52	0.0559	0.14317	.	0.750686	0.13444	N	0.387426	T	0.20495	0.0493	L	0.57536	1.79	0.09310	N	1	P;B;B	0.35433	0.501;0.004;0.004	B;B;B	0.27608	0.081;0.003;0.003	T	0.06807	-1.0806	10	0.41790	T	0.15	.	5.6584	0.17654	0.2186:0.0:0.4487:0.3328	.	446;639;639	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	E	639	ENSP00000356297:G639E;ENSP00000351318:G639E	ENSP00000351318:G639E	G	+	2	0	PLEKHG1	151193856	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	0.242000	0.18087	-0.004000	0.14419	-0.377000	0.06932	GGG		0.478	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			A	151152163	G	A	151152163	3	1	3	1	0	0	0	0	1	0	0	0	12068	1232	43	3	1970	3	PLEKHG1	6	151152163	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2286798	151152163	19962904	35	144											
PLG	5340	broad.mit.edu	37	chr6	161173177	161173177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggccttctcaaggaagCccagctccctgtgattgaga	9	9	11	12	0	1	2	1	2	1	1	3	4	2	3	3	2	3	2	3	2	2	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:161173177C>T	ENST00000308192.9	+	18	2219	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	719	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCAAGGAAGCCCAGCTCCCT	0.468																																						uc003qtm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(2155-2157)gCc>gTc		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						59	59	59					6																	161173177		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173177C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2156C>T	6.37:g.161173177C>T	ENSP00000308938:p.Ala719Val						p.A719V	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	17	2268	+			719			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2156C>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720424	0.48728	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	T	0.80994	-1.44	3.38	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.187720	0.25634	U	0.029336	T	0.47838	0.1467	N	0.02765	-0.5	0.44852	D	0.997868	P	0.47253	0.892	B	0.40534	0.332	T	0.64236	-0.6455	10	0.54805	T	0.06	.	14.6685	0.68926	0.0:1.0:0.0:0.0	.	719	P00747	PLMN_HUMAN	V	719;119	ENSP00000308938:A719V	ENSP00000308938:A719V	A	+	2	0	PLG	161093167	1.000000	0.71417	0.784000	0.31847	0.328000	0.28507	5.464000	0.66719	1.582000	0.49881	0.411000	0.27672	GCC		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161173177	C	T	161173177	3	4	3	1	0	0	0	0	1	0	0	0	12086	739	26	3	2230	3	PLG	6	161173177	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	10021014	161173177	9941890	36	145											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758263	99758263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggattgagggtttgggctCgagggccagcaccagaaggc	8	7	18	8	1	0	2	0	1	0	1	1	4	0	3	2	5	1	3	2	5	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:99758263C>T	ENST00000360039.4	-	4	1141	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.E149K|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R188Q|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.E149K|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R250Q|C7orf43_ENST00000457641.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	250					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTGGGCTCGAGGGCCAGC	0.567																																						uc003utt.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(748-750)cGa>cAa		Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.							113	123	119					7																	99758263		2202	4296	6498	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758263C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.749G>A	7.37:g.99758263C>T	ENSP00000353142:p.Arg250Gln					C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R188Q|GAL3ST4_uc003utu.3_Missense_Mutation_p.R250Q	p.R250Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			2	1766	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		250					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.749G>A	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.776|3.776	-0.046582|-0.046582	0.07407|0.07407	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|T;T;T	.|0.33654	.|1.5;1.5;1.4	4.6|4.6	-0.723|-0.723	0.11181|0.11181	.|.	.|.	.|.	.|.	.|.	T|T	0.17238|0.17238	0.0414|0.0414	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14438	.|0.01;0.001	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.22452|0.22452	-1.0216|-1.0216	6|9	0.87932|0.27082	D|T	0|0.32	2.9222|2.9222	4.5679|4.5679	0.12196|0.12196	0.0:0.3641:0.2948:0.3411|0.0:0.3641:0.2948:0.3411	.|.	.|188;250	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	K|Q	149|250;250;188	.|ENSP00000400451:R250Q;ENSP00000353142:R250Q;ENSP00000398304:R188Q	ENSP00000414733:E149K|ENSP00000353142:R250Q	E|R	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596199|99596199	0.000000|0.000000	0.05858|0.05858	0.035000|0.035000	0.18076|0.18076	0.228000|0.228000	0.25075|0.25075	-0.353000|-0.353000	0.07691|0.07691	-0.056000|-0.056000	0.13221|0.13221	0.511000|0.511000	0.50034|0.50034	GAG|CGA		0.567	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		T	99758263	C	T	99758263	3	4	3	1	0	0	0	0	1	0	0	0	6200	884	31	2	715	2	GAL3ST4	7	99758263	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		99758263	59380400	37	146											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	3	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	40694873	140453136	18685527	38	147											
FAM86B2	653333	broad.mit.edu	37	chr8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggagctgctcgaggaTccggctgtgagggtcgctga	5	8	16	12	4	0	2	0	2	0	0	4	5	1	4	2	4	2	4	2	4	0	0	rs2719492	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:12286307T>C	ENST00000262365.4	-	6	576	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602													N|||	2149	0.429113	0.5151	0.4524	5008	,	,		12361	0.3998		0.3738	False		,,,				2504	0.3834					uc003wvt.4																			0				endometrium(1)|kidney(2)	3						c.(577-579)Atc>Gtc		Homo sapiens family with sequence similarity 86, member B2 (FAM86B2), mRNA.							25	25	25					8																	12286307		229	838	1067	SO:0001583	missense	653333							g.chr8:12286307T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.577A>G	8.37:g.12286307T>C	ENSP00000262365:p.Ile193Val					LOC100506990_uc011kxp.1_Intron|FAM86B2_uc003wvq.4_Intron|FAM86B2_uc003wvr.4_Missense_Mutation_p.I16V|FAM86B2_uc010lsn.3_Intron|FAM86B2_uc003wvu.4_Intron|FAM86B2_uc010lso.3_Intron|FAM86B2_uc011kxt.2_Intron|FAM86B2_uc010lsl.3_Intron|FAM86B2_uc011kxu.2_Intron	p.I193V	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN			5	577	-			193						Missense_Mutation	SNP	ENST00000262365.4	37	c.577A>G	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.920349	0.00498	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000527331	T;T;T	0.16073	2.37;2.37;2.37	1.16	0.202	0.15190	.	.	.	.	.	T	0.02418	0.0074	N	0.00219	-1.825	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.02654	T	1	.	4.1295	0.10143	0.0:0.5837:0.2408:0.1755	.	193	P0C5J1	F86B2_HUMAN	V	193;159;159	ENSP00000262365:I193V;ENSP00000283479:I159V;ENSP00000432491:I159V	ENSP00000262365:I193V	I	-	1	0	FAM86B2	12330678	0.997000	0.39634	0.178000	0.23040	0.042000	0.13812	3.640000	0.54350	-0.331000	0.08501	-3.466000	0.00035	ATC		0.602	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		C	12286307	T	C	12286307	3	2	3	1	0	0	0	0	1	0	0	0	5645	1435	50	4	427	4	FAM86B2	8	12286307	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08		12286307	134077715	39	148											
ASAH1	427	broad.mit.edu	37	chr8	17916969	17916969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctaccctgcttagcatCgagtctagatacaaaaggag	13	9	8	11	1	2	1	0	0	2	1	3	3	2	2	2	1	4	2	2	1	6	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:17916969C>T	ENST00000262097.6	-	12	1233	c.922G>A	c.(922-924)Gat>Aat	p.D308N	ASAH1_ENST00000417108.2_Missense_Mutation_p.D218N|ASAH1_ENST00000520781.1_Missense_Mutation_p.D283N|ASAH1_ENST00000381733.4_Missense_Mutation_p.D324N|ASAH1_ENST00000314146.10_Missense_Mutation_p.D302N	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	308					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGCTTAGCATCGAGTCTAGAT	0.398																																						uc003wyn.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(970-972)Gat>Aat		Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.							188	169	176					8																	17916969		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17916969C>T	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.922G>A	8.37:g.17916969C>T	ENSP00000262097:p.Asp308Asn					ASAH1_uc003wyl.2_Missense_Mutation_p.D308N|ASAH1_uc003wym.2_Missense_Mutation_p.D283N|ASAH1_uc003wyo.2_Missense_Mutation_p.D302N	p.D324N	NM_004315	NP_004306	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	11	1167	-			308					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.970G>A	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	C	7.733	0.699730	0.15106	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.53	1.21	0.21127	.	0.667620	0.16516	N	0.211026	T	0.61135	0.2323	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.14805	0.011;0.009;0.003;0.003	B;B;B;B	0.20767	0.031;0.013;0.021;0.021	T	0.40942	-0.9536	10	0.11485	T	0.65	-13.4716	9.8739	0.41191	0.0:0.672:0.0:0.328	.	302;324;283;308	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	N	308;324;283;218;302	ENSP00000262097:D308N;ENSP00000371152:D324N;ENSP00000427751:D283N;ENSP00000394125:D218N;ENSP00000326970:D302N	ENSP00000262097:D308N	D	-	1	0	ASAH1	17961249	0.001000	0.12720	0.000000	0.03702	0.212000	0.24457	0.145000	0.16157	0.273000	0.22049	0.650000	0.86243	GAT		0.398	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		T	17916969	C	T	17916969	3	4	3	1	0	0	0	0	1	0	0	0	1006	884	31	2	277	2	ASAH1	8	17916969	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	5630662	17916969	128447053	40	149											
DNAJC5B	85479	broad.mit.edu	37	chr8	66963845	66963845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacaggagaagctctataCgaaattcttggtctgcataa	15	10	8	8	1	3	1	0	0	3	1	3	3	3	1	0	2	4	2	0	2	6	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:66963845C>T	ENST00000276570.5	+	3	350	c.63C>T	c.(61-63)taC>taT	p.Y21Y	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	21	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCTCTATACGAAATTCTTG	0.398																																						uc003xvs.1																			0				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(61-63)taC>taT		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.							127	120	122					8																	66963845		2203	4300	6503	SO:0001819	synonymous_variant	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66963845C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.63C>T	8.37:g.66963845C>T						DNAJC5B_uc003xvt.1_Non-coding_Transcript	p.Y21Y	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		2	354	+		Lung NSC(129;0.114)|all_lung(136;0.188)	21			J.		Q969Y8	Silent	SNP	ENST00000276570.5	37	c.63C>T	CCDS6183.1																																																																																				0.398	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		T	66963845	C	T	66963845	2	4	3	1	0	0	0	0	0	0	0	1	4651	547	19	1		1	DNAJC5B	8	66963845	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	49046876	66963845	79400177	41	150											
RNF19A	25897	broad.mit.edu	37	chr8	101273881	101273881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcggatggctcctattCgatccatgtggcttccactt	5	15	9	12	2	1	0	0	0	1	0	6	2	4	1	3	3	0	2	3	3	1	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:101273881C>T	ENST00000519449.1	-	9	1887	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.R524Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	524					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGCTCCTATTCGATCCATGTG	0.532																																						uc003yjj.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1570-1572)cGa>cAa		Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.							191	141	158					8																	101273881		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101273881C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1571G>A	8.37:g.101273881C>T	ENSP00000428968:p.Arg524Gln					RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	p.R524Q	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		8	1888	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		524					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1571G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032441	0.93575	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84589	-1.87;-1.87	5.34	5.34	0.76211	.	0.056153	0.64402	D	0.000001	D	0.86410	0.5926	L	0.59436	1.845	0.52501	D	0.999956	D	0.71674	0.998	P	0.50860	0.652	T	0.83233	-0.0062	10	0.13853	T	0.58	.	18.6531	0.91439	0.0:1.0:0.0:0.0	.	524	Q9NV58	RN19A_HUMAN	Q	524	ENSP00000428968:R524Q;ENSP00000342667:R524Q	ENSP00000342667:R524Q	R	-	2	0	RNF19A	101343057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	2.512000	0.84698	0.591000	0.81541	CGA		0.532	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		T	101273881	C	T	101273881	3	4	3	1	0	0	0	0	1	0	0	0	13470	884	31	2	957	2	RNF19A	8	101273881	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	34310036	101273881	45090141	42	151											
GPR158	57512	broad.mit.edu	37	chr10	25886887	25886887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacaaggagggcgccGaccatggcacagccaaaggc	14	1	15	11	2	0	1	0	0	0	1	0	4	0	3	3	5	1	1	3	5	3	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886887G>T	ENST00000376351.3	+	11	2691	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	778					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGGGCGCCGACCATGGCAC	0.567																																						uc001isj.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2332-2334)Gac>Tac		Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.							76	84	82					10																	25886887		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886887G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2332G>T	10.37:g.25886887G>T	ENSP00000365529:p.Asp778Tyr					GPR158_uc001isk.3_Missense_Mutation_p.D153Y	p.D778Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN			10	2392	+			778					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2332G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650654	0.47362	.	.	ENSG00000151025	ENST00000376351	T	0.61040	0.14	5.78	5.78	0.91487	.	0.244102	0.34725	N	0.003738	T	0.54549	0.1865	L	0.29908	0.895	0.53688	D	0.999978	P	0.39044	0.656	B	0.42062	0.374	T	0.57659	-0.7773	10	0.66056	D	0.02	.	20.0026	0.97425	0.0:0.0:1.0:0.0	.	778	Q5T848	GP158_HUMAN	Y	778	ENSP00000365529:D778Y	ENSP00000365529:D778Y	D	+	1	0	GPR158	25926893	1.000000	0.71417	0.830000	0.32933	0.025000	0.11179	9.476000	0.97823	2.722000	0.93159	0.650000	0.86243	GAC		0.567	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25886887	G	T	25886887	3	4	3	1	0	0	0	0	1	0	0	0	6663	1058	37	5	2374	5	GPR158	10	25886887	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		25886887	109647860	43	152			1	1		2	2	19	G		4.94226e-05
GPR158	57512	broad.mit.edu	37	chr10	25886905	25886905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccatggcacagccaaaGgcactgccctcatcaggaag	12	4	10	15	1	2	0	2	0	0	0	2	2	2	1	4	3	2	2	4	3	2	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886905G>C	ENST00000376351.3	+	11	2709	c.2350G>C	c.(2350-2352)Ggc>Cgc	p.G784R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	784					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACAGCCAAAGGCACTGCCCT	0.547																																						uc001isj.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2350-2352)Ggc>Cgc		Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.							75	84	81					10																	25886905		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886905G>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2350G>C	10.37:g.25886905G>C	ENSP00000365529:p.Gly784Arg					GPR158_uc001isk.3_Missense_Mutation_p.G159R	p.G784R	NM_020752	NP_065803	Q5T848	GP158_HUMAN			10	2410	+			784					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2350G>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	2.276	-0.365776	0.05069	.	.	ENSG00000151025	ENST00000376351	T	0.59772	0.24	5.78	-0.778	0.10977	.	0.615746	0.15560	N	0.255960	T	0.35158	0.0922	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25916	-1.0118	10	0.08179	T	0.78	.	10.0841	0.42408	0.6195:0.0:0.3805:0.0	.	784	Q5T848	GP158_HUMAN	R	784	ENSP00000365529:G784R	ENSP00000365529:G784R	G	+	1	0	GPR158	25926911	0.996000	0.38824	0.000000	0.03702	0.030000	0.12068	2.685000	0.46959	-0.387000	0.07809	-0.781000	0.03364	GGC		0.547	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		C	25886905	G	C	25886905	3	2	3	1	0	0	0	0	1	0	0	0	6663	1000	35	5	2392	5	GPR158	10	25886905	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	18	25886905	109647842	44	153			1	1		2	2	19	G		4.94226e-05
MYO3A	53904	broad.mit.edu	37	chr10	26446423	26446423	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggattctcccatcggatacTttttgctaactttataaagc	11	15	6	9	1	1	0	0	0	1	0	3	2	1	2	1	2	4	1	1	2	5	8			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:26446423T>A	ENST00000265944.5	+	26	3144	c.2978T>A	c.(2977-2979)cTt>cAt	p.L993H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	993	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCGGATACTTTTTGCTAAC	0.333																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2977-2979)cTt>cAt		Homo sapiens myosin IIIA (MYO3A), mRNA.							79	79	79					10																	26446423		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446423T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2978T>A	10.37:g.26446423T>A	ENSP00000265944:p.Leu993His					MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	p.L993H	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			25	3338	+			993			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2978T>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068737	0.55539	.	.	ENSG00000095777	ENST00000265944	T	0.73152	-0.72	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.061224	0.64402	D	0.000003	D	0.83413	0.5249	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84217	0.0459	10	0.44086	T	0.13	.	15.1347	0.72555	0.0:0.0:0.0:1.0	.	993	Q8NEV4	MYO3A_HUMAN	H	993	ENSP00000265944:L993H	ENSP00000265944:L993H	L	+	2	0	MYO3A	26486429	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.119000	0.57891	2.042000	0.60477	0.533000	0.62120	CTT		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26446423	T	A	26446423	3	1	3	1	0	0	0	0	1	0	0	0	10076	1609	56	5	3072	5	MYO3A	10	26446423	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	559518	26446423	109088324	45	154											
CXCL12	6387	broad.mit.edu	37	chr10	44876321	44876321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgtagctcaggctgacGggcttccctagaagaggtaa	10	9	12	10	1	2	3	1	1	1	2	3	3	3	3	1	3	1	5	1	3	4	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:44876321G>A	ENST00000374429.2	-	2	155	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_ENST00000395793.3_Silent_p.P23P|CXCL12_ENST00000395795.4_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000343575.6_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000374426.2_Silent_p.P23P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	23					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)	p.P23P(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	TCAGGCTGACGGGCTTCCCTA	0.507																																						uc001jbf.3																			3	Substitution - coding silent(3)	p.P23P(4)	lung(3)	endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(67-69)ccC>ccT		Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	Dexamethasone(DB01234)						197	185	189					10																	44876321		2203	4300	6503	SO:0001819	synonymous_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44876321G>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"Endogenous ligands"	10672	protein-coding gene	gene with protein product		600835	"stromal cell-derived factor 1"	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.69C>T	10.37:g.44876321G>A						CXCL12_uc001jbh.3_Silent_p.P23P|CXCL12_uc021ppm.1_Silent_p.P23P|CXCL12_uc001jbi.3_Silent_p.P23P	p.P23P	NM_000609	NP_000600	P48061	SDF1_HUMAN			1	161	-			23					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.69C>T	CCDS44373.1																																																																																				0.507	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		A	44876321	G	A	44876321	2	1	3	1	0	0	0	0	0	0	0	1	4080	1103	39	2		2	CXCL12	10	44876321	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	18429898	44876321	90658426	46	155											
OR52I2	143502	broad.mit.edu	37	chr11	4609074	4609074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatgcatgtcctctttgaCcattccaacctgggttcatg	7	14	8	12	0	2	2	1	2	1	0	4	2	4	2	4	1	2	2	4	1	1	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:4609074C>A	ENST00000312614.4	+	1	1054	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	344						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTTTGACCATTCCAACC	0.453																																						uc010qyh.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(1030-1032)gaC>gaA		Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.							136	137	137					11																	4609074		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4609074C>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.1032C>A	11.37:g.4609074C>A	ENSP00000308764:p.Asp344Glu						p.D344E	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	1054	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	344					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.1032C>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	7.512	0.654955	0.14580	.	.	ENSG00000226288	ENST00000312614	T	0.00591	6.35	3.79	-6.36	0.01969	.	2.292210	0.02185	N	0.060840	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49021	-0.8982	10	0.54805	T	0.06	5.3385	0.1982	0.00142	0.2383:0.1928:0.2352:0.3338	.	344	Q8NH67	O52I2_HUMAN	E	344	ENSP00000308764:D344E	ENSP00000308764:D344E	D	+	3	2	OR52I2	4565650	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.355000	0.01088	-1.499000	0.01821	-0.261000	0.10672	GAC		0.453	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		A	4609074	C	A	4609074	3	1	3	1	0	0	0	0	1	0	0	0	11121	506	18	5	1034	5	OR52I2	11	4609074	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		4609074	130397442	47	156											
TEAD1	7003	broad.mit.edu	37	chr11	12946585	12946585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctttgggaagcaagtaGtagaaaaagtagaggtaagt	15	9	13	4	0	0	2	0	0	0	2	1	3	1	3	1	2	1	6	1	2	8	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:12946585G>A	ENST00000526600.1	+	6	935	c.712G>A	c.(712-714)Gta>Ata	p.V238I	TEAD1_ENST00000361905.4_Missense_Mutation_p.V319I|RP11-47J17.2_ENST00000454086.2_RNA|TEAD1_ENST00000361985.2_Missense_Mutation_p.V334I|TEAD1_ENST00000334310.6_Missense_Mutation_p.V265I|TEAD1_ENST00000527575.1_Missense_Mutation_p.V276I|TEAD1_ENST00000527636.1_Missense_Mutation_p.V334I			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	334	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAAGCAAGTAGTAGAAAAAGT	0.438																																						uc021qdx.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(1000-1002)Gta>Ata		Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.							102	96	98					11																	12946585		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12946585G>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.712G>A	11.37:g.12946585G>A	ENSP00000435393:p.Val238Ile					TEAD1_uc001mkk.4_Missense_Mutation_p.V238I|TEAD1_uc009ygl.3_Missense_Mutation_p.V155I	p.V334I	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	10	1620	+			334			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.1000G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.236450	0.79800	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.85630	2.765	0.51767	D	0.999937	P;D;D	0.63046	0.59;0.992;0.972	P;D;P	0.80764	0.72;0.994;0.852	T	0.69851	-0.5033	10	0.62326	D	0.03	-0.1836	19.5476	0.95305	0.0:0.0:1.0:0.0	.	265;238;334	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	I	319;334;276;265;334;238	ENSP00000355332:V319I;ENSP00000435233:V334I;ENSP00000435977:V276I;ENSP00000334754:V265I;ENSP00000354588:V334I;ENSP00000435393:V238I	ENSP00000334754:V265I	V	+	1	0	TEAD1	12903161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GTA		0.438	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		A	12946585	G	A	12946585	3	1	3	1	0	0	0	0	1	0	0	0	15735	1029	36	3	1034	3	TEAD1	11	12946585	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	8337511	12946585	122059931	48	157											
OR5M3	219482	broad.mit.edu	37	chr11	56237516	56237516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgttgctgccagactcGtcagaaaaccataaatgtaa	16	10	7	8	1	1	2	1	0	0	2	2	2	1	2	2	0	3	3	2	0	6	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:56237516G>A	ENST00000312240.2	-	1	498	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCAGACTCGTCAGAAAACC	0.413																																						uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(457-459)aCg>aTg		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.							117	107	111					11																	56237516		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237516G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.458C>T	11.37:g.56237516G>A	ENSP00000312208:p.Thr153Met					OR8U8_uc001nit.2_Intron	p.T153M	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			0	499	-	Esophageal squamous(21;0.00448)		153					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.458C>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	9.403	1.078593	0.20227	.	.	ENSG00000174937	ENST00000312240	T	0.36878	1.23	5.13	0.792	0.18625	GPCR, rhodopsin-like superfamily (1);	0.747332	0.11913	N	0.517460	T	0.24198	0.0586	L	0.31157	0.91	0.09310	N	1	B	0.22414	0.069	B	0.26202	0.067	T	0.24261	-1.0165	10	0.45353	T	0.12	-6.7954	5.4691	0.16660	0.2551:0.1444:0.6005:0.0	.	153	Q8NGP4	OR5M3_HUMAN	M	153	ENSP00000312208:T153M	ENSP00000312208:T153M	T	-	2	0	OR5M3	55994092	0.000000	0.05858	0.038000	0.18304	0.908000	0.53690	-2.210000	0.01227	0.556000	0.29098	0.478000	0.44815	ACG		0.413	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237516	G	A	56237516	3	1	3	1	0	0	0	0	1	0	0	0	11175	1145	40	1	467	1	OR5M3	11	56237516	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	43290931	56237516	78769000	49	158											
SCYL1	57410	broad.mit.edu	37	chr11	65303487	65303487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccgtttgcaccgtccCgggttgcgggtgtcctgggc	2	9	17	13	4	0	0	0	0	0	0	2	1	2	1	4	4	2	3	4	4	0	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:65303487C>T	ENST00000270176.5	+	11	1527	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	SCYL1_ENST00000279270.6_Missense_Mutation_p.R484W|SCYL1_ENST00000420247.2_Missense_Mutation_p.R484W|SCYL1_ENST00000524944.1_Missense_Mutation_p.R484W|SCYL1_ENST00000533862.1_Missense_Mutation_p.R484W|SCYL1_ENST00000525364.1_Missense_Mutation_p.R484W|SCYL1_ENST00000527009.1_Missense_Mutation_p.R341W	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	484					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TGCACCGTCCCGGGTTGCGGG	0.597																																						uc001oea.1																			0				ovary(1)|skin(1)	2						c.(1450-1452)Cgg>Tgg		Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.							75	77	77					11																	65303487		1916	4110	6026	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303487C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1450C>T	11.37:g.65303487C>T	ENSP00000270176:p.Arg484Trp					SCYL1_uc009yqk.3_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	p.R484W	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			10	1527	+			484					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1450C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136600	0.77662	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.220287	0.39083	N	0.001465	T	0.76637	0.4015	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81861	-0.0738	10	0.87932	D	0	-12.9632	14.5158	0.67818	0.1568:0.8432:0.0:0.0	.	484;484;484;484;484	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	W	484;484;484;484;484;484;484;484;341	ENSP00000270176:R484W;ENSP00000431635:R484W;ENSP00000408192:R484W;ENSP00000437254:R484W;ENSP00000433450:R484W;ENSP00000279270:R484W;ENSP00000432175:R484W;ENSP00000436993:R341W	ENSP00000270176:R484W	R	+	1	2	SCYL1	65060063	0.984000	0.35163	1.000000	0.80357	0.763000	0.43281	2.474000	0.45154	2.577000	0.86979	0.462000	0.41574	CGG		0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		T	65303487	C	T	65303487	3	4	3	1	0	0	0	0	1	0	0	0	13947	643	23	2	1492	2	SCYL1	11	65303487	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	9065971	65303487	69703029	50	159											
FAT3	120114	broad.mit.edu	37	chr11	92568240	92568240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacgccttggtgggagactCtgtcattttggtaggtacct	7	13	13	8	1	2	2	1	0	1	2	2	3	2	2	2	4	1	2	2	4	2	5	rs374741231		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:92568240C>T	ENST00000298047.6	+	14	10093	c.10076C>T	c.(10075-10077)tCt>tTt	p.S3359F	FAT3_ENST00000525166.1_Missense_Mutation_p.S3209F|FAT3_ENST00000409404.2_Missense_Mutation_p.S3359F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3359	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGAGACTCTGTCATTTTG	0.468										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10075-10077)tCt>tTt		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							40	41	41					11																	92568240		1928	4127	6055	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568240C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10076C>T	11.37:g.92568240C>T	ENSP00000298047:p.Ser3359Phe	TCGA Ovarian(4;0.039)					p.S3359F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			13	10093	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3359			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10076C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.218795	0.79464	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02709	4.19;4.19;4.19	5.46	5.46	0.80206	.	.	.	.	.	T	0.09949	0.0244	L	0.48877	1.53	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	T	0.03394	-1.1041	9	0.48119	T	0.1	.	19.3231	0.94250	0.0:1.0:0.0:0.0	.	3359	Q8TDW7-3	.	F	3359;3359;3209	ENSP00000298047:S3359F;ENSP00000387040:S3359F;ENSP00000432586:S3209F	ENSP00000298047:S3359F	S	+	2	0	FAT3	92207888	0.914000	0.31030	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.539000	0.85634	0.655000	0.94253	TCT		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92568240	C	T	92568240	3	4	3	1	0	0	0	0	1	0	0	0	5691	913	32	3	10130	3	FAT3	11	92568240	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	27264753	92568240	42438276	51	160											
EXPH5	23086	broad.mit.edu	37	chr11	108380635	108380635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtttttgtcccgctgcGataagcccaactttcatttc	7	15	6	13	2	1	0	1	0	0	0	3	1	2	0	3	0	3	2	3	0	2	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:108380635G>A	ENST00000265843.4	-	6	5709	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	EXPH5_ENST00000443411.1_Missense_Mutation_p.R1679C|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1860C|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1791C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1867					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCCCGCTGCGATAAGCCCAA	0.428																																						uc001pkk.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5599-5601)Cgc>Tgc		Homo sapiens exophilin 5 (EXPH5), mRNA.							59	58	58					11																	108380635		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380635G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5599C>T	11.37:g.108380635G>A	ENSP00000265843:p.Arg1867Cys					EXPH5_uc010rvz.2_Missense_Mutation_p.R1711C|EXPH5_uc010rvy.2_Missense_Mutation_p.R1679C	p.R1867C	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	5	5710	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1867					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5599C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504744	0.26949	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.02974	4.32;4.24;4.09;4.32	5.63	0.591	0.17465	.	0.628626	0.16337	N	0.218887	T	0.05181	0.0138	L	0.44542	1.39	0.09310	N	1	D	0.61080	0.989	P	0.57776	0.827	T	0.35724	-0.9777	10	0.56958	D	0.05	-0.0019	2.0777	0.03628	0.1246:0.3501:0.1596:0.3657	.	1867	Q8NEV8	EXPH5_HUMAN	C	1867;1791;1679;1860;697	ENSP00000265843:R1867C;ENSP00000391966:R1791C;ENSP00000411390:R1679C;ENSP00000432546:R1860C	ENSP00000265843:R1867C	R	-	1	0	EXPH5	107885845	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.271000	0.18626	-0.147000	0.11254	-0.274000	0.10170	CGC		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108380635	G	A	108380635	3	1	3	1	0	0	0	0	1	0	0	0	5322	1058	37	2	374	2	EXPH5	11	108380635	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	15812395	108380635	26625881	52	161											
DDX6	1656	broad.mit.edu	37	chr11	118626197	118626197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacagcttgtatatcaataCctcgggtaaacagatcttaa	14	12	6	9	1	3	1	2	0	1	1	4	1	3	1	1	1	3	3	1	1	7	6			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:118626197C>T	ENST00000526070.2	-	12	1550	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	DDX6_ENST00000534980.1_Missense_Mutation_p.G397D|DDX6_ENST00000264018.4_Missense_Mutation_p.G397D	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.G386V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATATCAATACCTCGGGTAAA	0.323			T	IGH@	B-NHL																																	uc001pub.2				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		1	Substitution - Missense(1)	p.G386V(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(1189-1191)gGt>gAt		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.							77	71	73					11																	118626197		1797	4062	5859	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118626197C>T	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1190G>A	11.37:g.118626197C>T	ENSP00000433704:p.Gly397Asp					DDX6_uc001pua.2_Missense_Mutation_p.G97D|DDX6_uc001puc.2_Missense_Mutation_p.G397D	p.G397D	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	11	1551	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	397			Helicase C-terminal.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.1190G>A	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966930	0.92855	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.63255	-0.03;-0.03;-0.03	5.39	5.39	0.77823	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91486	0.5208	10	0.87932	D	0	.	19.1285	0.93396	0.0:1.0:0.0:0.0	.	397	P26196	DDX6_HUMAN	D	397	ENSP00000264018:G397D;ENSP00000442266:G397D;ENSP00000433704:G397D	ENSP00000264018:G397D	G	-	2	0	DDX6	118131407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.730000	0.84881	2.687000	0.91594	0.650000	0.86243	GGT		0.323	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		T	118626197	C	T	118626197	3	4	3	1	0	0	0	0	1	0	0	0	4377	507	18	3	269	3	DDX6	11	118626197	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	10245562	118626197	16380319	53	162											
B4GALNT3	283358	broad.mit.edu	37	chr12	662979	662979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtacctgtgtttgacccGgtagtaaactgggaccagac	10	10	11	10	2	0	2	0	1	0	1	0	3	0	3	3	2	3	4	3	2	5	5	rs200374878		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:662979G>A	ENST00000266383.5	+	14	1903	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	630					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGTTTGACCCGGTAGTAAACT	0.547																																						uc001qii.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1888-1890)ccG>ccA		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.		G		0,4406		0,0,2203	135	105	116		1890	-10.7	0.1	12		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B4GALNT3	NM_173593.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		630/999	662979	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662979G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1890G>A	12.37:g.662979G>A						B4GALNT3_uc001qij.1_Silent_p.P533P|B4GALNT3_uc001qik.1_Silent_p.P179P	p.P630P	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		13	1890	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		630					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.1890G>A	CCDS8504.1																																																																																				0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		A	662979	G	A	662979	2	1	3	1	0	0	0	0	0	0	0	1	1268	1103	39	2		2	B4GALNT3	12	662979	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08		662979	133188916	54	163											
CLSTN3	9746	broad.mit.edu	37	chr12	7294683	7294683	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttatccccagaGgagaagaacaaagagaagga	15	12	9	5	0	0	4	0	0	0	4	1	7	1	5	2	2	1	0	2	2	5	6			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:7294683G>A	ENST00000266546.6	+	10	1938	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	CLSTN3_ENST00000537408.1_Splice_Site_p.E508E	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	496					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TATCCCCAGAGGAGAAGAACA	0.453											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qss.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.e9-1		Homo sapiens calsyntenin 3 (CLSTN3), mRNA.							93	89	90					12																	7294683		2201	4299	6500	SO:0001630	splice_region_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7294683G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1487-1G>A	12.37:g.7294683G>A			OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_uc001qsr.3_Splice_Site_p.E496_splice	p.E508_splice	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			9	2061	+			496					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1523_splice	CCDS8575.1																																																																																				0.453	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	Silent	A	7294683	G	A	7294683	5	1	3	1	0	0	0	0	0	0	1	0	3563	1014	35	3	1526	3	CLSTN3	12	7294683	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	6631704	7294683	126557212	55	164											
RIMKLB	57494	broad.mit.edu	37	chr12	8926145	8926162	+	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC	-																															tgccgcctcccttctaccctCtggccggctcacccggcgta																								rs201378504|rs34259191		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	ENST00000538135.1	+	6	1751_1768	c.926_943delCTGGCCGGCTCACCCGGC	c.(925-945)tctggccggctcacccggcgt>tgt	p.309_315SGRLTRR>C	A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000357529.3_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_ENST00000535829.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_ENST00000299673.5_Intron			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	309					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.R314W(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT	0.55																																						uc001qux.2																			1	Substitution - Missense(1)	p.R314W(2)	large_intestine(1)	central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(925-945)tctggccggctcacccggcgt>tgt		Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.																																				SO:0001651	inframe_deletion	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.926_943delCTGGCCGGCTCACCCGGC	12.37:g.8926145_8926162delCTGGCCGGCTCACCCGGC	ENSP00000440943:p.Ser309_Arg315delinsCys					RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron	p.309_315SGRLTRR>C	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	2188_2205	+			309					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	In_Frame_Del	DEL	ENST00000538135.1	37	c.926_943delCTGGCCGGCTCACCCGGC	CCDS41748.1																																																																																				0.55	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		-	8926162	CTGGCCGGCTCACCCGGC	-	8926145	7	5	3	1	0	1	0	1	0	0	0	0	13366	913	32	0	944	0	RIMKLB	12	8926145	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	TCGA-02-0047-01A-01D-1490-08	1631462	8926145	124925750	56	165											
BCL2L14	79370	broad.mit.edu	37	chr12	12247837	12247837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaagagaacttctcGccatggatccagcagcacgg	12	7	10	12	2	1	2	0	1	1	1	3	4	2	3	3	2	4	2	3	2	3	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12247837G>A	ENST00000308721.5	+	5	1124	c.918G>A	c.(916-918)tcG>tcA	p.S306S	BCL2L14_ENST00000589718.1_Silent_p.S306S|BCL2L14_ENST00000266434.4_3'UTR|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000586576.1_Silent_p.S339S|BCL2L14_ENST00000396367.1_Silent_p.S306S	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	306					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AGAACTTCTCGCCATGGATCC	0.448																																						uc001rac.3																			0				large_intestine(1)|lung(2)|skin(3)	6						c.(916-918)tcG>tcA		Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.							52	46	48					12																	12247837		2203	4300	6503	SO:0001819	synonymous_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12247837G>A	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.918G>A	12.37:g.12247837G>A						ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.S306S|BCL2L14_uc001rae.3_3'UTR	p.S306S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	4	1119	+		Prostate(47;0.0872)	306					A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	c.918G>A	CCDS8645.1																																																																																				0.448	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		A	12247837	G	A	12247837	2	1	3	1	0	0	0	0	0	0	0	1	1372	1074	38	1		1	BCL2L14	12	12247837	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	3321692	12247837	121604058	57	166											
LRP6	4040	broad.mit.edu	37	chr12	12274335	12274335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggggtgcaaagtgccGgtagctatatggcctgtagc	7	9	18	7	1	0	0	0	0	0	0	0	0	0	0	2	6	4	4	2	6	5	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12274335G>A	ENST00000261349.4	-	23	4643	c.4567C>T	c.(4567-4569)Cgg>Tgg	p.R1523W	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1478W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1523					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCAAAGTGCCGGTAGCTATAT	0.458																																						uc001rah.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4567-4569)Cgg>Tgg		Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.							93	97	96					12																	12274335		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274335G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4567C>T	12.37:g.12274335G>A	ENSP00000261349:p.Arg1523Trp					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	p.R1523W	NM_002336	NP_002327	O75581	LRP6_HUMAN			22	4709	-		Prostate(47;0.0865)	1523					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4567C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397123	0.83120	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.94723	-3.38;-3.5	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000025	D	0.96870	0.8978	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.79784	0.903;0.993	D	0.96671	0.9496	10	0.62326	D	0.03	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1478;1523	F5H7J9;O75581	.;LRP6_HUMAN	W	1523;1478	ENSP00000261349:R1523W;ENSP00000442472:R1478W	ENSP00000261349:R1523W	R	-	1	2	LRP6	12165602	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.320000	0.79064	2.780000	0.95670	0.643000	0.83706	CGG		0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			A	12274335	G	A	12274335	3	1	3	1	0	0	0	0	1	0	0	0	8962	1115	39	2	278	2	LRP6	12	12274335	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	26498	12274335	121577560	58	167											
TPTE2	93492	broad.mit.edu	37	chr13	20041405	20041405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaatgtcaaaaaaaatgtAaatgacatcaaccagcagag	20	8	6	7	0	2	2	2	1	0	1	2	2	2	2	1	0	2	2	1	0	8	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:20041405A>C	ENST00000400230.2	-	7	516	c.472T>G	c.(472-474)Tac>Gac	p.Y158D	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.Y158D|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	158					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAAATGTAAATGACATCA	0.294																																						uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(472-474)Tac>Gac		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							49	54	52					13																	20041405		2201	4288	6489	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041405A>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.472T>G	13.37:g.20041405A>C	ENSP00000383089:p.Tyr158Asp					TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	p.Y158D	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	683	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	158					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.472T>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	a	11.69	1.714479	0.30413	.	.	ENSG00000132958	ENST00000400230;ENST00000382977;ENST00000343548	D;D	0.98493	-4.96;-4.96	2.4	2.4	0.29515	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.97263	0.9105	M	0.78049	2.395	0.36351	D	0.860109	P	0.41673	0.759	P	0.46339	0.513	D	0.96956	0.9698	9	.	.	.	-9.8702	6.7241	0.23346	1.0:0.0:0.0:0.0	.	158	Q6XPS3	TPTE2_HUMAN	D	158	ENSP00000383089:Y158D;ENSP00000372437:Y158D	.	Y	-	1	0	TPTE2	18939405	0.420000	0.25457	0.003000	0.11579	0.004000	0.04260	3.590000	0.53979	1.337000	0.45525	0.383000	0.25322	TAC		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		C	20041405	A	C	20041405	3	2	3	1	0	0	0	0	1	0	0	0	16428	362	13	5	1152	5	TPTE2	13	20041405	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		20041405	95128473	59	168											
PABPC3	5042	broad.mit.edu	37	chr13	25671552	25671552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggttacttcatgacaGctgtcccacagactcagaac	11	10	7	13	0	3	3	3	1	0	2	4	3	4	3	1	1	3	2	1	1	2	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:25671552G>A	ENST00000281589.3	+	1	1253	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	406					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCATGACAGCTGTCCCACA	0.532																																						uc001upy.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1216-1218)Gct>Act		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							156	148	151					13																	25671552		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671552G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1216G>A	13.37:g.25671552G>A	ENSP00000281589:p.Ala406Thr						p.A406T	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	1277	+		Lung SC(185;0.0225)|Breast(139;0.0602)	406					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1216G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251591	0.22880	.	.	ENSG00000151846	ENST00000281589	T	0.28454	1.61	0.875	0.875	0.19130	.	0.000000	0.46758	U	0.000271	T	0.19005	0.0456	L	0.35414	1.06	0.51233	D	0.999915	B	0.16166	0.016	B	0.15484	0.013	T	0.06075	-1.0847	10	0.30078	T	0.28	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	406	Q9H361	PABP3_HUMAN	T	406	ENSP00000281589:A406T	ENSP00000281589:A406T	A	+	1	0	PABPC3	24569552	1.000000	0.71417	0.974000	0.42286	0.615000	0.37417	6.589000	0.74080	0.759000	0.33084	0.313000	0.20887	GCT		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671552	G	A	25671552	3	1	3	1	0	0	0	0	1	0	0	0	11365	971	34	3	1218	3	PABPC3	13	25671552	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	5630147	25671552	89498326	60	169											
C13orf23	80209	broad.mit.edu	37	chr13	39586362	39586362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgcagcttgaagtccaGatgataaactaaaacaattg	15	10	8	8	0	0	3	0	2	0	1	1	3	1	3	2	0	5	2	2	0	6	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:39586362G>A	ENST00000352251.3	-	12	3403	c.2570C>T	c.(2569-2571)tCt>tTt	p.S857F	PROSER1_ENST00000350125.3_Missense_Mutation_p.S835F|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	857																	TTGAAGTCCAGATGATAAACT	0.383																																						uc001uwy.3																			0											c.(2569-2571)tCt>tTt		Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.							106	121	116					13																	39586362		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39586362G>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2570C>T	13.37:g.39586362G>A	ENSP00000332034:p.Ser857Phe					PROSER1_uc001uwz.3_Missense_Mutation_p.S835F	p.S857F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN			11	3443	-			857					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.2570C>T	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111512	0.56398	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.45668	0.9;0.89	5.96	5.96	0.96718	.	.	.	.	.	T	0.41419	0.1158	N	0.19112	0.55	0.33563	D	0.597594	D;P	0.56968	0.978;0.892	P;P	0.54629	0.757;0.643	T	0.47129	-0.9141	8	.	.	.	-18.9663	13.5193	0.61559	0.0:0.1561:0.8439:0.0	.	835;857	A6NJ97;Q86XN7	.;PRSR1_HUMAN	F	857;835	ENSP00000332034:S857F;ENSP00000339123:S835F	.	S	-	2	0	PROSER1	38484362	1.000000	0.71417	0.868000	0.34077	0.356000	0.29392	5.485000	0.66850	2.821000	0.97095	0.650000	0.86243	TCT		0.383	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39586362	G	A	39586362	3	1	3	1	0	0	0	0	1	0	0	0	1721	942	33	3	272	3	C13orf23	13	39586362	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	13914810	39586362	75583516	61	170											
DIS3	22894	broad.mit.edu	37	chr13	73336102	73336102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtgtatattggagacgcTaagccatagtgatgaaaatc	13	12	11	5	1	0	3	0	2	0	1	1	4	0	3	1	1	1	2	1	1	6	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:73336102T>A	ENST00000377767.4	-	17	2401	c.2301A>T	c.(2299-2301)ttA>ttT	p.L767F	DIS3_ENST00000545453.1_Missense_Mutation_p.L605F|DIS3_ENST00000377780.4_Missense_Mutation_p.L737F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	767					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGAGACGCTAAGCCATAGT	0.328										Multiple Myeloma(4;0.011)																												uc001vix.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(2299-2301)ttA>ttT		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.							94	90	91					13																	73336102		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73336102T>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2301A>T	13.37:g.73336102T>A	ENSP00000366997:p.Leu767Phe	Multiple Myeloma(4;0.011)				DIS3_uc001viy.4_Missense_Mutation_p.L737F|DIS3_uc001viz.3_Non-coding_Transcript	p.L767F	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	16	2675	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	767					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2301A>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347093	0.61183	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.71341	-0.56;-0.56;-0.56	5.68	3.24	0.37175	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90372	0.4381	10	0.87932	D	0	.	10.126	0.42649	0.0:0.1357:0.0:0.8643	.	737;767	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	F	767;737;605	ENSP00000366997:L767F;ENSP00000367011:L737F;ENSP00000440058:L605F	ENSP00000366997:L767F	L	-	3	2	DIS3	72234103	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.646000	0.37249	0.428000	0.26173	-0.451000	0.05528	TTA		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		A	73336102	T	A	73336102	3	1	3	1	0	0	0	0	1	0	0	0	4535	1519	53	5	595	5	DIS3	13	73336102	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	33749740	73336102	41833776	62	171											
GPR132	29933	broad.mit.edu	37	chr14	105518226	105518226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcgcagagtgccaggCagagcaggtagacggccagc	10	3	16	12	2	0	3	0	0	0	3	1	3	0	3	2	3	4	6	2	3	1	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr14:105518226C>T	ENST00000329797.3	-	4	1159	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	GPR132_ENST00000539291.2_Missense_Mutation_p.C83Y|GPR132_ENST00000392585.2_Missense_Mutation_p.C74Y|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	83					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGTGCCAGGCAGAGCAGGTA	0.662																																						uc001yqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(247-249)tGc>tAc		Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.							89	85	86					14																	105518226		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518226C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.248G>A	14.37:g.105518226C>T	ENSP00000328818:p.Cys83Tyr					GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.C74Y	p.C83Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	3	1147	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	83					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.248G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984899	0.53934	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.36520	1.25;1.25;1.25	4.83	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.384537	0.28011	N	0.016950	T	0.43322	0.1242	L	0.57536	1.79	0.34615	D	0.717984	P;P	0.49185	0.92;0.92	P;P	0.48952	0.472;0.596	T	0.62291	-0.6885	10	0.87932	D	0	.	12.9015	0.58128	0.1631:0.8369:0.0:0.0	.	74;83	B4E144;Q9UNW8	.;GP132_HUMAN	Y	83;74;83	ENSP00000328818:C83Y;ENSP00000376364:C74Y;ENSP00000438094:C83Y	ENSP00000328818:C83Y	C	-	2	0	GPR132	104589271	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.534000	0.36051	2.213000	0.71641	0.462000	0.41574	TGC		0.662	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		T	105518226	C	T	105518226	3	4	3	1	0	0	0	0	1	0	0	0	6642	710	25	3	898	3	GPR132	14	105518226	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		105518226	1831314	63	172											
RYR3	6263	broad.mit.edu	37	chr15	34047281	34047281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggggtatgaaggatatGgagctggatgcctcctccat	9	10	14	8	1	0	1	0	1	0	0	2	4	2	4	3	5	2	3	3	5	4	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:34047281G>A	ENST00000389232.4	+	58	8485	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2805I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2805	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGGATATGGAGCTGGATG	0.458																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8413-8415)atG>atA		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							104	108	107					15																	34047281		1946	4157	6103	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34047281G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8415G>A	15.37:g.34047281G>A	ENSP00000373884:p.Met2805Ile					RYR3_uc010bar.3_Missense_Mutation_p.M2805I	p.M2805I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	57	8485	+		all_lung(180;7.18e-09)	2805			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8415G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924230	0.52653	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96491	-0.19;-4.03	5.61	5.61	0.85477	.	0.217574	0.45126	D	0.000386	D	0.93485	0.7921	L	0.34521	1.04	0.54753	D	0.999988	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	D	0.88938	0.3378	10	0.25106	T	0.35	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	2805;2805	Q15413-2;Q15413	.;RYR3_HUMAN	I	2805	ENSP00000373884:M2805I;ENSP00000399610:M2805I	ENSP00000354735:M2805I	M	+	3	0	RYR3	31834573	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	7.828000	0.86729	2.809000	0.96659	0.555000	0.69702	ATG		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34047281	G	A	34047281	3	1	3	1	0	0	0	0	1	0	0	0	13770	1348	47	3	8645	3	RYR3	15	34047281	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		34047281	68484111	64	173											
BUB1B	701	broad.mit.edu	37	chr15	40512942	40512942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagttaactagtcctggGgctttgctctttcagtgagc	7	13	13	8	0	2	1	1	1	1	0	3	2	3	2	1	3	3	3	1	3	3	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:40512942G>A	ENST00000287598.6	+	23	3330	c.3135G>A	c.(3133-3135)ggG>ggA	p.G1045G	PAK6_ENST00000453867.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Silent_p.G1059G	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1045	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTAGTCCTGGGGCTTTGCTCT	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.4			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(3133-3135)ggG>ggA		Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.							91	87	88					15																	40512942		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40512942G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.3135G>A	15.37:g.40512942G>A						PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron	p.G1045G	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	22	3347	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1045			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.3135G>A	CCDS10053.1																																																																																				0.443	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			A	40512942	G	A	40512942	2	1	3	1	0	0	0	0	0	0	0	1	1571	1219	43	3		3	BUB1B	15	40512942	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	6465661	40512942	62018450	65	174											
ZNF280D	54816	broad.mit.edu	37	chr15	56993158	56993158	+	Frame_Shift_Del	DEL	A	A	-																															gaaaaaggctgaacaataacAgaactatctgaagatctaga																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:56993158delA	ENST00000267807.7	-	6	570	c.354delT	c.(352-354)tctfs	p.S118fs	ZNF280D_ENST00000559237.1_Frame_Shift_Del_p.S105fs|ZNF280D_ENST00000558320.1_Frame_Shift_Del_p.S118fs|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Frame_Shift_Del_p.S105fs	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAACAATAACAGAACTATCTG	0.393																																						uc002adu.3																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(352-354)tctfs		Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.							101	92	95					15																	56993158		2192	4292	6484	SO:0001589	frameshift_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56993158delA	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.354delT	15.37:g.56993158delA	ENSP00000267807:p.Ser118fs					ZNF280D_uc002adv.3_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.3_Frame_Shift_Del_p.S118fs	p.S118fs	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	5	571	-			118					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Frame_Shift_Del	DEL	ENST00000267807.7	37	c.354delT	CCDS32245.1																																																																																				0.393	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		-	56993158	A	-	56993158	7	5	3	1	0	1	0	1	0	0	0	0	17814	175	7	0	2749	0	ZNF280D	15	56993158	Frame_Shift_Del	DEL	A	TCGA-02-0047-01A-01D-1490-08	16480216	56993158	45538234	66	175											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059831	79059831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtggctccagggcgcTctgctcatccagccccacgc	4	6	14	17	3	2	0	1	0	1	0	4	0	4	0	4	4	2	3	4	4	0	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:79059831T>G	ENST00000388820.4	-	18	2959	c.2749A>C	c.(2749-2751)Agc>Cgc	p.S917R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	917	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGGGCGCTCTGCTCATCC	0.701																																						uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2749-2751)Agc>Cgc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							21	25	24					15																	79059831		2187	4287	6474	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059831T>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2749A>C	15.37:g.79059831T>G	ENSP00000373472:p.Ser917Arg					ADAMTS7_uc010und.1_Intron	p.S917R	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			17	2960	-			917			TSP type-1 3.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2749A>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330976	0.01298	.	.	ENSG00000136378	ENST00000388820	T	0.58940	0.3	4.59	0.715	0.18186	.	0.648787	0.15332	N	0.267974	T	0.21718	0.0523	N	0.01618	-0.8	0.22401	N	0.999133	B	0.06786	0.001	B	0.06405	0.002	T	0.27502	-1.0072	10	0.06757	T	0.87	.	6.8976	0.24265	0.0:0.0886:0.4811:0.4303	.	917	Q9UKP4	ATS7_HUMAN	R	917	ENSP00000373472:S917R	ENSP00000373472:S917R	S	-	1	0	ADAMTS7	76846886	0.741000	0.28217	0.494000	0.27515	0.196000	0.23810	0.547000	0.23299	-0.151000	0.11176	0.391000	0.25812	AGC		0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79059831	T	G	79059831	3	3	3	1	0	0	0	0	1	0	0	0	271	1551	54	5	2339	5	ADAMTS7	15	79059831	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	22066673	79059831	23471561	67	176											
C16orf91	283951	broad.mit.edu	37	chr16	1478504	1478504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatttcctgccgcccgCgcctttcaggacagaacaca	8	8	9	16	3	1	1	1	0	0	1	2	2	2	2	5	2	2	0	5	2	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:1478504C>T	ENST00000310355.1	-	2	146	c.147G>A	c.(145-147)gcG>gcA	p.A49A				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGCCGCCCGCGCCTTTCAGG	0.677																																						uc010uvd.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(145-147)gcG>gcA		Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.							20	21	21					16																	1478504		2182	4287	6469	SO:0001819	synonymous_variant	283951					integral to membrane		g.chr16:1478504C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.147G>A	16.37:g.1478504C>T							p.A49A	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			1	147	-			0					Q96RZ0	Silent	SNP	ENST00000310355.1	37	c.147G>A	CCDS32360.1																																																																																				0.677	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878		T	1478504	C	T	1478504	2	4	3	1	0	0	0	0	0	0	0	1	1844	755	27	1		1	C16orf91	16	1478504	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08		1478504	88876249	68	177											
CREBBP	1387	broad.mit.edu	37	chr16	3843446	3843446	+	Frame_Shift_Del	DEL	C	C	-																															tcaaaacgtttttcatggttCgacaatgcgggagcgagcag																								rs200933101		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:3843446delC	ENST00000262367.5	-	4	1966	c.1157delG	c.(1156-1158)cgafs	p.R386fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.R386fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	386	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T387fs*5(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTCATGGTTCGACAATGCGG	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		1	Insertion - Frameshift(1)	p.T387fs*5(1)|p.R386*(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1156-1158)cgafs		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							149	131	137					16																	3843446		2197	4300	6497	SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3843446delC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1157delG	16.37:g.3843446delC	ENSP00000262367:p.Arg386fs					CREBBP_uc002cvw.3_Frame_Shift_Del_p.R386fs	p.R386fs	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	3	1361	-		Ovarian(90;0.0266)	386			Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	c.1157delG	CCDS10509.1																																																																																				0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		-	3843446	C	-	3843446	7	5	3	1	0	1	0	1	0	0	0	0	3861	884	31	0	6283	0	CREBBP	16	3843446	Frame_Shift_Del	DEL	C	TCGA-02-0047-01A-01D-1490-08	2364942	3843446	86511307	69	178											
ABR	29	broad.mit.edu	37	chr17	953842	953842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctgacaaaatagcCgaaggaatccacctccaggg	12	7	11	11	1	0	1	0	1	0	0	2	3	2	2	4	3	2	2	4	3	5	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:953842C>T	ENST00000302538.5	-	15	1740	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	ABR_ENST00000291107.2_Missense_Mutation_p.G495S|ABR_ENST00000536794.2_Missense_Mutation_p.G314S|ABR_ENST00000574437.1_Missense_Mutation_p.G486S|ABR_ENST00000544583.2_Missense_Mutation_p.G486S	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	532	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAAAATAGCCGAAGGAATCC	0.617																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1594-1596)Ggc>Agc		Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.							109	96	100					17																	953842		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:953842C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1594G>A	17.37:g.953842C>T	ENSP00000303909:p.Gly532Ser					ABR_uc002fse.3_Missense_Mutation_p.G486S|ABR_uc010vqg.2_Missense_Mutation_p.G314S|ABR_uc002fsg.3_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	p.G532S	NM_021962	NP_001153218	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	14	1704	-			532			C2.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1594G>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202418	0.94997	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.73	4.73	0.59995	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057536	0.64402	D	0.000002	T	0.71143	0.3305	M	0.83953	2.67	0.58432	D	0.999998	D;D;D	0.89917	0.992;1.0;0.998	P;D;P	0.91635	0.816;0.999;0.879	T	0.74500	-0.3645	10	0.49607	T	0.09	.	16.8787	0.86058	0.0:1.0:0.0:0.0	.	314;495;532	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	S	532;486;495;314	ENSP00000303909:G532S;ENSP00000442048:G486S;ENSP00000291107:G495S;ENSP00000437429:G314S	ENSP00000291107:G495S	G	-	1	0	ABR	900592	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.598000	0.82745	2.449000	0.82847	0.561000	0.74099	GGC		0.617	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			T	953842	C	T	953842	3	4	3	1	0	0	0	0	1	0	0	0	99	652	23	2	1021	2	ABR	17	953842	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		953842	80241368	70	179											
SPACA3	124912	broad.mit.edu	37	chr17	31322643	31322643	+	Frame_Shift_Del	DEL	C	C	-																															gctcagctgcctgctaccctCcagtgaggccaagctctacg																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:31322643delC	ENST00000269053.3	+	2	321	c.251delC	c.(250-252)tccfs	p.S85fs	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Frame_Shift_Del_p.S16fs|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	85					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTGCTACCCTCCAGTGAGGCC	0.607																																						uc002hhs.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(250-252)tccfs		Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.							105	71	82					17																	31322643		2203	4300	6503	SO:0001589	frameshift_variant	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322643delC	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.251delC	17.37:g.31322643delC	ENSP00000269053:p.Ser85fs					SPACA3_uc010cte.1_Non-coding_Transcript	p.S84fs	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		1	326	+			84					Q7Z4Y5	Frame_Shift_Del	DEL	ENST00000269053.3	37	c.251delC	CCDS11275.1																																																																																				0.607	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		-	31322643	C	-	31322643	7	5	3	1	0	1	0	1	0	0	0	0	14973	855	30	0	257	0	SPACA3	17	31322643	Frame_Shift_Del	DEL	C	TCGA-02-0047-01A-01D-1490-08	30368801	31322643	49872567	71	180											
AMAC1	146861	broad.mit.edu	37	chr17	33521251	33521251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcgctggtaccagcGgaggctgggtggagcggagg	6	5	21	9	3	0	0	0	0	0	0	0	3	0	3	1	8	4	4	1	8	1	1	rs553697473		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:33521251G>A	ENST00000297307.5	-	1	161	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	26						integral component of membrane (GO:0016021)											TGGTACCAGCGGAGGCTGGGT	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		15749	0		0	False		,,,				2504	0					uc002hjd.2																			0											c.(76-78)Cgc>Tgc		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							54	57	56					17																	33521251		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33521251G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.76C>T	17.37:g.33521251G>A	ENSP00000297307:p.Arg26Cys						p.R26C	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN			0	162	-			26					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.76C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758388	0.15846	.	.	ENSG00000164729	ENST00000297307	T	0.27256	1.68	.	.	.	.	0.699485	0.12196	N	0.490734	T	0.09468	0.0233	N	0.08118	0	0.28027	N	0.934293	P	0.40931	0.733	B	0.31547	0.132	T	0.16364	-1.0405	8	0.54805	T	0.06	0.0119	.	.	.	.	26	Q8N808	S35G3_HUMAN	C	26	ENSP00000297307:R26C	ENSP00000297307:R26C	R	-	1	0	SLC35G3	30545364	0.777000	0.28628	0.292000	0.24919	0.295000	0.27426	2.201000	0.42734	0.064000	0.16427	0.064000	0.15345	CGC		0.657	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33521251	G	A	33521251	3	1	3	1	0	0	0	0	1	0	0	0	559	1116	39	2	944	2	AMAC1	17	33521251	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2198608	33521251	47673959	72	181											
GSDMA	284110	broad.mit.edu	37	chr17	38122551	38122551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggctttaagaatatgCtggacacccgagtggaggga	11	11	13	6	1	0	1	0	0	0	1	0	5	0	4	1	4	1	2	1	4	3	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:38122551C>T	ENST00000301659.4	+	3	371	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	85					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TAAGAATATGCTGGACACCCG	0.537																																						uc002htl.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(253-255)Ctg>Ttg		Homo sapiens gasdermin A (GSDMA), mRNA.							92	92	92					17																	38122551		1957	4139	6096	SO:0001819	synonymous_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38122551C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.253C>T	17.37:g.38122551C>T						GSDMA_uc002htm.1_Silent_p.L85L	p.L85L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN			2	371	+			85					Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	c.253C>T	CCDS45669.1																																																																																				0.537	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		T	38122551	C	T	38122551	2	4	3	1	0	0	0	0	0	0	0	1	6816	796	28	3		3	GSDMA	17	38122551	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	4601300	38122551	43072659	73	182											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0	0.0014	5008	,	,		19121	0.001		0	False		,,,				2504	0					uc002hwy.3																			3	Substitution - Missense(3)	p.V205I(6)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		Homo sapiens keratin 15 (KRT15), mRNA.		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75	75	75		613	2.7	1	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	p.V205I	NM_002275	NP_002266	P19012	K1C15_HUMAN			2	804	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		T	39673185	C	T	39673185	3	4	3	1	0	0	0	0	1	0	0	0	8452	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	1550634	39673185	41522025	74	183											
ARSG	22901	broad.mit.edu	37	chr17	66391258	66391258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtagccctggcccaggccaGcttacctcaaggacggcgct	7	6	13	15	2	1	0	1	0	0	0	1	1	1	1	4	5	3	3	4	5	3	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:66391258G>A	ENST00000448504.2	+	10	1932	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.S215N	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	379					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCCAGGCCAGCTTACCTCAA	0.587																																						uc002jhc.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(1135-1137)aGc>aAc		Homo sapiens arylsulfatase G (ARSG), mRNA.							165	126	139					17																	66391258		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66391258G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1136G>A	17.37:g.66391258G>A	ENSP00000407193:p.Ser379Asn					TRNA_Und_uc021uce.1_5'Flank	p.S379N	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		9	1932	+			379					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1136G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505703	0.26949	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	D	0.98567	-5.0	5.25	4.27	0.50696	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.427924	0.26923	N	0.021818	D	0.96034	0.8708	L	0.46741	1.465	0.29118	N	0.880447	B	0.20459	0.045	B	0.23018	0.043	D	0.92464	0.5980	10	0.38643	T	0.18	.	11.7557	0.51874	0.0:0.1768:0.8232:0.0	.	379	Q96EG1	ARSG_HUMAN	N	379;278	ENSP00000407193:S278N	ENSP00000407193:S278N	S	+	2	0	ARSG	63902853	0.013000	0.17824	0.999000	0.59377	0.362000	0.29581	0.446000	0.21694	1.430000	0.47334	0.555000	0.69702	AGC		0.587	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		A	66391258	G	A	66391258	3	1	3	1	0	0	0	0	1	0	0	0	992	971	34	3	1170	3	ARSG	17	66391258	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	26718073	66391258	14803952	75	184											
NEDD4L	23327	broad.mit.edu	37	chr18	56010160	56010160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggactcacccgtacGtcgggctgtgaaagacaccc	10	6	11	14	3	1	2	1	1	0	1	2	3	1	3	3	2	2	2	3	2	3	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr18:56010160G>A	ENST00000400345.3	+	16	1683	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	NEDD4L_ENST00000586263.1_Missense_Mutation_p.R439H|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R326H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R326H|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R346H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R403H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R326H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R459H|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R363H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R346H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R447H	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	467					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCACCCGTACGTCGGGCTGTG	0.488																																						uc002lgy.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(1399-1401)cGt>cAt		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.							63	68	67					18																	56010160		1976	4152	6128	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56010160G>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1400G>A	18.37:g.56010160G>A	ENSP00000383199:p.Arg467His					NEDD4L_uc002lgz.3_Missense_Mutation_p.R403H|NEDD4L_uc002lgx.3_Missense_Mutation_p.R447H|NEDD4L_uc010xee.1_Missense_Mutation_p.R346H|NEDD4L_uc002lhc.2_Missense_Mutation_p.R459H|NEDD4L_uc002lhd.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhb.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhe.2_Missense_Mutation_p.R439H|NEDD4L_uc002lhf.3_Missense_Mutation_p.R326H|NEDD4L_uc002lhg.3_Missense_Mutation_p.R346H|NEDD4L_uc002lhh.2_Missense_Mutation_p.R242H|NEDD4L_uc010dpm.1_Intron	p.R467H	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			15	1683	+			467					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.1400G>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553343	0.86127	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.35236	1.39;1.39;1.37;1.32;1.9;1.9;1.8;1.9;1.9;1.9	6.17	6.17	0.99709	.	1.550610	0.03421	N	0.206374	T	0.48960	0.1529	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.71674	0.996;0.996;0.998;0.994;0.996;0.996	P;P;P;P;P;P	0.56088	0.729;0.738;0.791;0.754;0.572;0.738	T	0.51356	-0.8716	10	0.13853	T	0.58	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	439;459;326;403;467;447	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	H	467;447;403;363;326;346;459;326;326;346	ENSP00000383199:R467H;ENSP00000372301:R447H;ENSP00000348847:R403H;ENSP00000256830:R363H;ENSP00000256832:R326H;ENSP00000411947:R346H;ENSP00000350569:R459H;ENSP00000393395:R326H;ENSP00000405440:R326H;ENSP00000389406:R346H	ENSP00000256830:R363H	R	+	2	0	NEDD4L	54161140	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	CGT		0.488	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	56010160	G	A	56010160	3	1	3	1	0	0	0	0	1	0	0	0	10311	1145	40	1	1490	1	NEDD4L	18	56010160	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		56010160	22067088	76	185											
HMG20B	10362	broad.mit.edu	37	chr19	3578077	3578077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacgagaagctcatcGtccgcatcaaggaaatcctg	12	6	9	14	3	2	1	2	0	0	1	5	3	4	2	3	1	2	3	3	1	3	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:3578077G>A	ENST00000333651.6	+	9	982	c.907G>A	c.(907-909)Gtc>Atc	p.V303I		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	303					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTCATCGTCCGCATCAA	0.701																																						uc002lya.3																			0				cervix(1)	1						c.(907-909)Gtc>Atc		Homo sapiens high mobility group 20B (HMG20B), mRNA.							24	29	28					19																	3578077		1972	4105	6077	SO:0001583	missense	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3578077G>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"High mobility group / Non-canonical"	5002	protein-coding gene	gene with protein product	"HMG box domain containing 2"	605535	"high-mobility group 20B"			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.907G>A	19.37:g.3578077G>A	ENSP00000328269:p.Val303Ile					HMG20B_uc002lyb.3_Missense_Mutation_p.V201I	p.V303I	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	8	975	+		Hepatocellular(1079;0.137)	303					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	37	c.907G>A	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.38|13.38	2.219168|2.219168	0.39201|0.39201	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000402569|ENST00000333651	.|T	.|0.67345	.|-0.26	4.38|4.38	0.687|0.687	0.18020|0.18020	.|.	.|21.256400	.|0.00520	.|N	.|0.000182	T|T	0.51517|0.51517	0.1679|0.1679	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.31696|0.31696	-0.9934|-0.9934	6|10	0.87932|0.30854	D|T	0|0.27	-10.0981|-10.0981	6.3829|6.3829	0.21544|0.21544	0.177:0.4317:0.3913:0.0|0.177:0.4317:0.3913:0.0	.|.	.|303	.|Q9P0W2	.|HM20B_HUMAN	H|I	132|303	.|ENSP00000328269:V303I	ENSP00000385987:R132H|ENSP00000328269:V303I	R|V	+|+	2|1	0|0	HMG20B|HMG20B	3529077|3529077	0.907000|0.907000	0.30839|0.30839	0.687000|0.687000	0.30102|0.30102	0.943000|0.943000	0.58893|0.58893	1.444000|1.444000	0.35068|0.35068	0.290000|0.290000	0.22444|0.22444	-0.436000|-0.436000	0.05848|0.05848	CGT|GTC		0.701	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339		A	3578077	G	A	3578077	3	1	3	1	0	0	0	0	1	0	0	0	7222	1145	40	1	937	1	HMG20B	19	3578077	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		3578077	55550906	77	186											
SAFB	6294	broad.mit.edu	37	chr19	5668177	5668177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatttgttcctaggcgcGgcagctttgccccaggcggg	5	10	15	11	3	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	2	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:5668177G>A	ENST00000292123.5	+	21	2730	c.2623G>A	c.(2623-2625)Ggc>Agc	p.G875S	SAFB_ENST00000592224.1_Missense_Mutation_p.G876S|SAFB_ENST00000588852.1_Missense_Mutation_p.G877S|SAFB_ENST00000433404.1_Missense_Mutation_p.G707S|SAFB_ENST00000454510.1_Missense_Mutation_p.G808S|SAFB_ENST00000538656.1_Missense_Mutation_p.G719S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	875	Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TCCTAGGCGCGGCAGCTTTGC	0.677																																					Colon(88;338 1345 6184 8214 20897)	uc002mcg.3																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2629-2631)Ggc>Agc		Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.							45	55	52					19																	5668177		2202	4300	6502	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5668177G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2623G>A	19.37:g.5668177G>A	ENSP00000292123:p.Gly875Ser					SAFB_uc002mcf.3_Missense_Mutation_p.G875S|SAFB_uc002mce.4_Missense_Mutation_p.G876S|SAFB_uc010xis.2_Missense_Mutation_p.G808S|SAFB_uc010xit.2_Missense_Mutation_p.G719S|SAFB_uc010xir.2_Missense_Mutation_p.G874S|SAFB_uc010xiu.2_Missense_Mutation_p.G676S	p.G877S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	20	2800	+			875			Gly-rich.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2629G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862968	0.71949	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.15139	2.69;2.75;2.45;2.62	5.04	5.04	0.67666	.	0.000000	0.47455	D	0.000238	T	0.38931	0.1059	M	0.75777	2.31	0.48632	D	0.999682	D;D;D;D;D;D;D	0.89917	0.977;1.0;0.995;0.977;0.977;0.977;0.977	P;P;P;P;P;P;P	0.58970	0.532;0.849;0.723;0.532;0.532;0.532;0.532	T	0.27571	-1.0070	10	0.72032	D	0.01	-26.3328	16.5343	0.84369	0.0:0.0:1.0:0.0	.	676;719;808;874;877;875;876	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	S	808;772;707;875;719	ENSP00000415895:G808S;ENSP00000404545:G707S;ENSP00000292123:G875S;ENSP00000438880:G719S	ENSP00000292123:G875S	G	+	1	0	SAFB	5619177	1.000000	0.71417	0.954000	0.39281	0.833000	0.47200	6.155000	0.71833	2.500000	0.84329	0.491000	0.48974	GGC		0.677	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			A	5668177	G	A	5668177	3	1	3	1	0	0	0	0	1	0	0	0	13806	1116	39	2	2705	2	SAFB	19	5668177	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2090100	5668177	53460806	78	187											
BTBD3	22903	broad.mit.edu	37	chr20	11899075	11899075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccaccagtttgttatgAaataattaccttgaagacta	13	14	7	7	0	0	3	0	2	0	1	0	3	0	3	3	0	2	3	3	0	6	7			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:11899075A>G	ENST00000405977.1	+	2	777	c.152A>G	c.(151-153)gAa>gGa	p.E51G	BTBD3_ENST00000399006.2_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.E51G	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	51					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTTTGTTATGAAATAATTACC	0.458																																						uc002wnz.3																			0		p.E51K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(151-153)gAa>gGa		Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.							148	163	158					20																	11899075		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11899075A>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.152A>G	20.37:g.11899075A>G	ENSP00000384545:p.Glu51Gly					BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	p.E51G	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN			0	511	+			51					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.152A>G	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937610	0.52972	.	.	ENSG00000132640	ENST00000405977;ENST00000378226	D;D	0.82081	-1.57;-1.57	6.17	6.17	0.99709	.	0.046950	0.85682	D	0.000000	T	0.79799	0.4508	L	0.46157	1.445	0.80722	D	1	B	0.20887	0.049	B	0.10450	0.005	T	0.75728	-0.3216	10	0.62326	D	0.03	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	51	Q9Y2F9	BTBD3_HUMAN	G	51	ENSP00000384545:E51G;ENSP00000367471:E51G	ENSP00000367471:E51G	E	+	2	0	BTBD3	11847075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAA		0.458	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			G	11899075	A	G	11899075	3	3	3	1	0	0	0	0	1	0	0	0	1544	246	9	4	154	4	BTBD3	20	11899075	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		11899075	51126445	79	188											
RPRD1B	58490	broad.mit.edu	37	chr20	36676850	36676850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacagcagctgaagctgTctatggaggactccaagagc	12	8	11	10	0	2	2	1	1	1	1	3	4	3	4	1	2	5	3	1	2	4	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:36676850T>C	ENST00000373433.4	+	3	784	c.382T>C	c.(382-384)Tct>Cct	p.S128P		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	128	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCTGAAGCTGTCTATGGAGGA	0.453																																						uc002xho.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(382-384)Tct>Cct		Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.							93	82	86					20																	36676850		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36676850T>C	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.382T>C	20.37:g.36676850T>C	ENSP00000362532:p.Ser128Pro						p.S128P	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			2	784	+			128			CID.		Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.382T>C	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940820	0.52972	.	.	ENSG00000101413	ENST00000373433	T	0.42131	0.98	5.65	5.65	0.86999	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.148534	0.64402	D	0.000006	T	0.33352	0.0860	L	0.32530	0.975	0.58432	D	0.999998	B	0.31290	0.318	B	0.28849	0.095	T	0.09509	-1.0671	10	0.30854	T	0.27	-8.3986	15.0569	0.71921	0.0:0.0:0.0:1.0	.	128	Q9NQG5	RPR1B_HUMAN	P	128	ENSP00000362532:S128P	ENSP00000362532:S128P	S	+	1	0	RPRD1B	36110264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.869000	0.63028	2.151000	0.67156	0.460000	0.39030	TCT		0.453	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		C	36676850	T	C	36676850	3	2	3	1	0	0	0	0	1	0	0	0	13616	1667	58	4	392	4	RPRD1B	20	36676850	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	24777775	36676850	26348670	80	189											
DNAJC28	54943	broad.mit.edu	37	chr21	34860697	34860697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatattttctgggctctgAcaatttctttctgagcatca	8	17	7	9	1	5	2	1	2	4	0	5	2	5	2	0	1	1	3	0	1	3	6			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr21:34860697A>G	ENST00000314399.3	-	2	1442	c.1004T>C	c.(1003-1005)gTc>gCc	p.V335A	DNAJC28_ENST00000381947.3_Missense_Mutation_p.V335A|DNAJC28_ENST00000402202.1_Missense_Mutation_p.V335A	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	335				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.						endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGGCTCTGACAATTTCTTT	0.343																																						uc021wim.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1003-1005)gTc>gCc		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.							95	90	92					21																	34860697		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34860697A>G	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.1004T>C	21.37:g.34860697A>G	ENSP00000320303:p.Val335Ala					DNAJC28_uc002yrv.3_Missense_Mutation_p.V335A|DNAJC28_uc002yrw.3_Missense_Mutation_p.V335A	p.V335A	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			0	1004	-			335	LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).				D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.1004T>C	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	A	0.076	-1.193339	0.01594	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.24	0.0817	0.14425	.	1.385730	0.04406	N	0.365174	T	0.15132	0.0365	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	9	0.07325	T	0.83	-0.0206	10.0402	0.42153	0.4004:0.0:0.5996:0.0	.	335	Q9NX36	DJC28_HUMAN	A	335	.	ENSP00000320303:V335A	V	-	2	0	DNAJC28	33782567	0.000000	0.05858	0.787000	0.31911	0.927000	0.56198	0.465000	0.22004	0.136000	0.18733	0.528000	0.53228	GTC		0.343	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			G	34860697	A	G	34860697	3	3	3	1	0	0	0	0	1	0	0	0	4646	275	10	4	166	4	DNAJC28	21	34860697	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		34860697	13269198	81	190											
SOX10	6663	broad.mit.edu	37	chr22	38369502	38369502	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggcgacagggccccctTtagggccgggacagtgtcgt	5	8	17	11	3	0	0	0	0	0	0	1	2	0	1	3	5	0	0	3	5	1	2	rs397515368		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:38369502T>G	ENST00000396884.2	-	4	1683	c.1401A>C	c.(1399-1401)taA>taC	p.*467Y	POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Nonstop_Mutation_p.*467Y|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	0					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					AGGGCCCCCTTTAGGGCCGGG	0.692																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	uc003aun.1																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(1399-1401)taA>taC		Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.							8	10	10					22																	38369502		2152	4216	6368	SO:0001578	stop_lost	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38369502T>G		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1401A>C	22.37:g.38369502T>G						AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	p.*467Y	NM_006941	NP_008872	P56693	SOX10_HUMAN			3	1679	-	Melanoma(58;0.045)		0					B4DV62|Q6FHW7	Nonstop_Mutation	SNP	ENST00000396884.2	37	c.1401A>C	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	T	0.641	-0.813377	0.02798	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937	.	.	.	5.12	-1.99	0.07457	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1795	0.48620	0.0:0.4302:0.0:0.5698	.	.	.	.	Y	467;467;287	.	.	X	-	3	2	SOX10	36699448	1.000000	0.71417	0.478000	0.27316	0.178000	0.23041	0.719000	0.25881	-0.219000	0.10003	-0.475000	0.04921	TAA		0.692	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		G	38369502	T	G	38369502	4	3	3	1	0	0	0	0	0	0	0	0	14941	1848	64	5	3	5	SOX10	22	38369502	Nonstop_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08		38369502	12935064	82	191											
CELSR1	9620	broad.mit.edu	37	chr22	46807508	46807508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggatgctcacttcttggagCcggtctgagtgccctgggca	5	10	15	11	1	3	1	1	1	2	0	3	3	3	3	2	4	3	2	2	4	0	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:46807508C>T	ENST00000262738.3	-	6	4759	c.4760G>A	c.(4759-4761)gGc>gAc	p.G1587D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1587	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCTTGGAGCCGGTCTGAGT	0.632																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4759-4761)gGc>gAc		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							64	57	59					22																	46807508		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46807508C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4760G>A	22.37:g.46807508C>T	ENSP00000262738:p.Gly1587Asp					CELSR1_uc011arc.1_5'Flank	p.G1587D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	5	4760	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1587			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4760G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442734	0.83993	.	.	ENSG00000075275	ENST00000262738	T	0.79247	-1.25	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.86401	0.5924	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83745	0.0206	10	0.10377	T	0.69	.	17.0436	0.86496	0.0:1.0:0.0:0.0	.	1587	Q9NYQ6	CELR1_HUMAN	D	1587	ENSP00000262738:G1587D	ENSP00000262738:G1587D	G	-	2	0	CELSR1	45186172	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	7.215000	0.77966	2.178000	0.69098	0.655000	0.94253	GGC		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46807508	C	T	46807508	3	4	3	1	0	0	0	0	1	0	0	0	3221	739	26	3	4404	3	CELSR1	22	46807508	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	8438006	46807508	4497058	83	192											
PLXNB2	23654	broad.mit.edu	37	chr22	50719359	50719359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacggggatgccggcCtcgtgcacgtcgttggtctg	4	9	15	13	5	1	0	0	0	1	0	4	1	2	1	3	4	3	3	3	4	0	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:50719359C>T	ENST00000449103.1	-	24	3947	c.3807G>A	c.(3805-3807)gaG>gaA	p.E1269E	PLXNB2_ENST00000359337.4_Silent_p.E1269E|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1269					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGATGCCGGCCTCGTGCACGT	0.652																																						uc003bkv.4																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3805-3807)gaG>gaA		Homo sapiens plexin B2 (PLXNB2), mRNA.							78	90	86					22																	50719359		2166	4248	6414	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719359C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3807G>A	22.37:g.50719359C>T						PLXNB2_uc003bkt.1_Silent_p.E61E|PLXNB2_uc003bku.1_Silent_p.E254E	p.E1269E	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	23	3900	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1269					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3807G>A	CCDS43035.1																																																																																				0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50719359	C	T	50719359	2	4	3	1	0	0	0	0	0	0	0	1	12124	680	24	3		3	PLXNB2	22	50719359	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	3911851	50719359	585207	84	193											
USP9X	8239	broad.mit.edu	37	chrX	41075440	41075440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgctcgtacacagtggtCaagcgagtggggggcattat	8	10	16	7	2	1	0	1	0	0	0	2	1	1	0	0	4	3	3	0	4	3	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chrX:41075440C>T	ENST00000324545.8	+	35	6253	c.5620C>T	c.(5620-5622)Caa>Taa	p.Q1874*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1874*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1874	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACACAGTGGTCAAGCGAGTGG	0.443																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5620-5622)Caa>Taa		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							99	106	104					X																	41075440		2195	4296	6491	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075440C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5620C>T	X.37:g.41075440C>T	ENSP00000316357:p.Gln1874*					USP9X_uc004dfc.3_Nonsense_Mutation_p.Q1874*	p.Q1874*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			34	6253	+			1874					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.5620C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	50	16.847906	0.99873	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	.	.	.	X	1874	.	ENSP00000316357:Q1874X	Q	+	1	0	USP9X	40960384	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.487000	0.81328	2.439000	0.82584	0.544000	0.68410	CAA		0.443	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		T	41075440	C	T	41075440	4	4	3	1	0	0	0	0	0	1	0	0	17087	827	29	3	5754	3	USP9X	23	41075440	Nonsense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		41075440	114195120	85	194											
GJB3	2707	broad.mit.edu	37	chr1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcttcaatatgccgcGcctggtgcagtgtgccaacg	7	9	13	12	3	1	0	1	0	0	0	1	0	1	0	3	2	4	3	3	2	3	2	rs200055020		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:35250842G>A	ENST00000373366.2	+	2	1094	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_ENST00000373362.3_Missense_Mutation_p.R160H|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	160					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.R160H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													g|||	1	0.000199681	0	0.0014	5008	,	,		20625	0		0	False		,,,				2504	0					uc001bxz.4																			1	Substitution - Missense(1)	p.R160H(2)	endometrium(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15						c.(478-480)cGc>cAc		Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.			HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	152	162	159		479,479	5.1	1	1		159	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense	GJB3	NM_001005752.1,NM_024009.2	29,29	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	possibly-damaging,possibly-damaging	160/271,160/271	35250842	6,13000	2203	4300	6503	SO:0001583	missense	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250842G>A	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.479G>A	1.37:g.35250842G>A	ENSP00000362464:p.Arg160His					GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN			0	479	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	160					B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	c.479G>A	CCDS384.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	10.40	1.340688	0.24339	4.54E-4	4.65E-4	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.95656	-3.77;-3.77	5.07	5.07	0.68467	Gap junction protein, cysteine-rich domain (1);	0.109633	0.64402	N	0.000017	D	0.92176	0.7519	M	0.61703	1.905	0.47476	D	0.999435	P	0.38300	0.626	B	0.23574	0.047	D	0.91616	0.5307	10	0.36615	T	0.2	.	13.7745	0.63046	0.0:0.154:0.846:0.0	.	160	O75712	CXB3_HUMAN	H	160;160;144	ENSP00000362464:R160H;ENSP00000362460:R160H	ENSP00000362460:R160H	R	+	2	0	GJB3	35023429	1.000000	0.71417	0.997000	0.53966	0.019000	0.09904	7.821000	0.86641	2.368000	0.80403	0.556000	0.70494	CGC		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250842	G	A	35250842	3	1	4	1	0	0	0	0	1	0	0	0	6409	1087	38	1	481	1	GJB3	1	35250842	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		35250842	213999779	1	195											
C8B	732	broad.mit.edu	37	chr1	57395177	57395177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgtcttgtcttacgtcttCcagagcatgaagaccaattt	9	16	7	9	1	3	3	0	1	3	2	4	3	4	3	2	0	2	1	2	0	3	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:57395177C>T	ENST00000371237.4	-	12	1742	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	C8B_ENST00000535057.1_Missense_Mutation_p.G497E|C8B_ENST00000543257.1_Missense_Mutation_p.G507E	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	559	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACGTCTTCCAGAGCATGA	0.448																																						uc001cyp.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1675-1677)gGa>gAa		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.							134	114	121					1																	57395177		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57395177C>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1676G>A	1.37:g.57395177C>T	ENSP00000360281:p.Gly559Glu					C8B_uc010oon.2_Missense_Mutation_p.G497E|C8B_uc010ooo.2_Missense_Mutation_p.G507E	p.G559E	NM_000066	NP_000057	P07358	CO8B_HUMAN			11	1743	-			559			TSP type-1 2.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1676G>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606791	0.66558	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.19669	2.13;2.13;2.13	3.62	3.62	0.41486	.	0.118481	0.64402	D	0.000019	T	0.42562	0.1208	M	0.66506	2.035	0.80722	D	1	D;D;D	0.76494	0.961;0.961;0.999	P;P;D	0.67725	0.744;0.744;0.953	T	0.34725	-0.9817	10	0.39692	T	0.17	-21.2207	16.5699	0.84608	0.0:1.0:0.0:0.0	.	507;497;559	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	E	559;507;497	ENSP00000360281:G559E;ENSP00000442548:G507E;ENSP00000440113:G497E	ENSP00000360281:G559E	G	-	2	0	C8B	57167765	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.388000	0.59633	2.331000	0.79229	0.462000	0.41574	GGA		0.448	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			T	57395177	C	T	57395177	3	4	4	1	0	0	0	0	1	0	0	0	2417	855	30	3	103	3	C8B	1	57395177	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	22144335	57395177	191855444	2	196											
HOOK1	51361	broad.mit.edu	37	chr1	60294482	60294482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttaacgaatcttggttAagccgaattaaagaggatgt	13	13	11	4	2	1	1	0	0	1	1	1	4	1	2	1	3	2	2	1	3	6	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:60294482A>T	ENST00000371208.3	+	3	437	c.180A>T	c.(178-180)ttA>ttT	p.L60F	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.L18F	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	60	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATCTTGGTTAAGCCGAATTA	0.348																																						uc009wad.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(178-180)ttA>ttT		Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.							123	115	118					1																	60294482		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60294482A>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.180A>T	1.37:g.60294482A>T	ENSP00000360252:p.Leu60Phe					HOOK1_uc001czo.3_Missense_Mutation_p.L60F|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L18F	p.L60F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			3	282	+	all_cancers(7;0.000129)		60			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.180A>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168960	0.78339	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.37584	1.19;1.19;1.19	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.79475	2.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.56613	-0.7950	10	0.09590	T	0.72	.	10.4791	0.44682	0.8548:0.0:0.0:0.1452	.	60	Q9UJC3	HOOK1_HUMAN	F	60;60;18	ENSP00000398860:L60F;ENSP00000360252:L60F;ENSP00000378928:L18F	ENSP00000360252:L60F	L	+	3	2	HOOK1	60067070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.508000	0.45450	2.242000	0.73789	0.482000	0.46254	TTA		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		T	60294482	A	T	60294482	3	4	4	1	0	0	0	0	1	0	0	0	7282	359	13	5	190	5	HOOK1	1	60294482	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	2899305	60294482	188956139	3	197											
COL11A1	1301	broad.mit.edu	37	chr1	103453212	103453212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcctgcttgacctgaagGacctgggtctccagttgggc	5	12	12	12	0	2	2	0	2	2	0	4	3	2	3	4	3	1	2	4	3	1	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:103453212G>A	ENST00000370096.3	-	30	2791	c.2479C>T	c.(2479-2481)Cct>Tct	p.P827S	COL11A1_ENST00000353414.4_Missense_Mutation_p.P788S|COL11A1_ENST00000358392.2_Missense_Mutation_p.P839S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P711S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	827	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P839S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGACCTGAAGGACCTGGGTCT	0.453																																						uc001dum.3																			1	Substitution - Missense(1)	p.P839S(2)	central_nervous_system(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2515-2517)Cct>Tct		Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.							88	84	85					1																	103453212		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453212G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2479C>T	1.37:g.103453212G>A	ENSP00000359114:p.Pro827Ser					COL11A1_uc001duk.3_Silent_p.V17V|COL11A1_uc001dul.3_Missense_Mutation_p.P827S|COL11A1_uc001dun.3_Missense_Mutation_p.P788S|COL11A1_uc009weh.3_Missense_Mutation_p.P711S	p.P839S	NM_080629	NP_542196	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	29	2833	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	827			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2515C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729540	0.48833	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	4.39	3.39	0.38822	.	0.214637	0.39985	N	0.001203	D	0.95815	0.8638	M	0.61703	1.905	0.51482	D	0.999925	P;B;B;B	0.37636	0.603;0.03;0.03;0.018	P;B;B;B	0.46320	0.512;0.034;0.034;0.015	D	0.96186	0.9134	10	0.56958	D	0.05	.	13.4102	0.60938	0.0:0.2364:0.7636:0.0	.	711;788;839;827	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	827;839;788;711	ENSP00000359114:P827S;ENSP00000351163:P839S;ENSP00000302551:P788S;ENSP00000426533:P711S	ENSP00000302551:P788S	P	-	1	0	COL11A1	103225800	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	3.588000	0.53964	2.417000	0.82017	0.460000	0.39030	CCT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103453212	G	A	103453212	3	1	4	1	0	0	0	0	1	0	0	0	3667	1174	41	3	3093	3	COL11A1	1	103453212	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	43158730	103453212	145797409	4	198											
PYHIN1	149628	broad.mit.edu	37	chr1	158912123	158912123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagagcaaagaaaattccGaagatcaatattcttcacaa	20	8	6	7	1	3	4	2	0	1	4	4	5	4	4	1	0	1	1	1	0	8	4	rs549850036	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:158912123G>A	ENST00000368140.1	+	5	1181	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.P303P|PYHIN1_ENST00000392252.3_Silent_p.P303P|PYHIN1_ENST00000392254.2_Silent_p.P312P	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	312	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATTCCGAAGATCAATA	0.378													g|||	3	0.000599042	8e-04	0	5008	,	,		18380	0		0	False		,,,				2504	0.002					uc001ftb.3																			0		p.P312L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(934-936)ccG>ccA		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							54	54	54					1																	158912123		2200	4297	6497	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158912123G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.936G>A	1.37:g.158912123G>A						PYHIN1_uc001ftc.3_Silent_p.P303P|PYHIN1_uc001ftd.3_Silent_p.P312P|PYHIN1_uc001fte.3_Silent_p.P303P	p.P312P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	1186	+	all_hematologic(112;0.0378)		312			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.936G>A	CCDS1178.1																																																																																				0.378	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		A	158912123	G	A	158912123	2	1	4	1	0	0	0	0	0	0	0	1	12865	1045	37	2		2	PYHIN1	1	158912123	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	55458911	158912123	90338498	5	199											
RASAL2	9462	broad.mit.edu	37	chr1	178425898	178425898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctcgtgttcttgctGatattaccaagtcattgact	7	16	6	12	1	3	2	1	2	2	0	5	2	3	2	2	0	2	2	2	0	3	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:178425898G>T	ENST00000462775.1	+	11	1956	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	RASAL2_ENST00000448150.3_Missense_Mutation_p.D741Y|RASAL2_ENST00000367649.3_Missense_Mutation_p.D752Y	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	611					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTTCTTGCTGATATTACCAA	0.468																																						uc001glq.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2254-2256)Gat>Tat		Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.							214	221	219					1																	178425898		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425898G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1831G>T	1.37:g.178425898G>T	ENSP00000420558:p.Asp611Tyr					RASAL2_uc001glr.3_Missense_Mutation_p.D611Y|RASAL2_uc009wxc.3_Missense_Mutation_p.D125Y	p.D752Y	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			12	3018	+			611					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2254G>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.38|19.38	3.815974|3.815974	0.70912|0.70912	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.19938|.	2.11;2.11;2.11|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Ras GTPase-activating protein (1);|.	0.169797|.	0.51477|.	D|.	0.000094|.	T|.	0.78502|.	0.4293|.	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.994;1.0|.	D;D;D|.	0.73708|.	0.981;0.973;0.941|.	T|.	0.79729|.	-0.1681|.	10|.	0.87932|.	D|.	0|.	.|.	18.6466|18.6466	0.91413|0.91413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	741;611;752|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	Y|L	741;752;611|161	ENSP00000407768:D741Y;ENSP00000356621:D752Y;ENSP00000420558:D611Y|.	ENSP00000356621:D752Y|.	D|X	+|+	1|2	0|2	RASAL2|RASAL2	176692521|176692521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.272000|9.272000	0.95707|0.95707	2.381000|2.381000	0.81170|0.81170	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		T	178425898	G	T	178425898	3	4	4	1	0	0	0	0	1	0	0	0	13064	1290	45	5	2342	5	RASAL2	1	178425898	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	19513775	178425898	70824723	6	200											
STX6	10228	broad.mit.edu	37	chr1	180971810	180971810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagttgcatcaaggttaaAttttctaggatttgcttcaa	11	17	7	6	0	4	0	3	0	1	0	4	1	4	1	0	2	2	4	0	2	5	8			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:180971810A>G	ENST00000258301.5	-	3	469	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	78					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTTAAATTTTCTAGGA	0.353																																						uc021pfr.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						c.(232-234)Ttt>Ctt		Homo sapiens syntaxin 6 (STX6), mRNA.							158	152	154					1																	180971810		2201	4300	6501	SO:0001583	missense	10228				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity	g.chr1:180971810A>G	AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.232T>C	1.37:g.180971810A>G	ENSP00000258301:p.Phe78Leu					STX6_uc010pnr.2_Intron	p.F78L	NM_005819	NP_005810	O43752	STX6_HUMAN			2	469	-			78					B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	ENST00000258301.5	37	c.232T>C	CCDS1341.1	.	.	.	.	.	.	.	.	.	.	A	32	5.181537	0.94885	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.58	5.58	0.84498	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	M	0.92026	3.265	0.47153	D	0.999332	D	0.76494	0.999	D	0.70016	0.967	D	0.89043	0.3450	8	0.87932	D	0	-18.0318	15.4292	0.75077	1.0:0.0:0.0:0.0	.	78	O43752	STX6_HUMAN	L	78	.	ENSP00000258301:F78L	F	-	1	0	STX6	179238433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.324000	0.90005	2.112000	0.64535	0.533000	0.62120	TTT		0.353	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819		G	180971810	A	G	180971810	3	3	4	1	0	0	0	0	1	0	0	0	15348	101	4	4	559	4	STX6	1	180971810	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	2545912	180971810	68278811	7	201											
CENPF	1063	broad.mit.edu	37	chr1	214787153	214787153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctacaagagctcttcagaAaattcaagagcttgaaggac	15	8	9	9	0	3	4	2	1	1	3	3	5	3	5	1	1	3	2	1	1	6	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:214787153A>G	ENST00000366955.3	+	2	224	c.56A>G	c.(55-57)aAa>aGa	p.K19R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K19R(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTCTTCAGAAAATTCAAGAG	0.428																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			1	Substitution - Missense(1)	p.K19R(2)|p.Q18*(1)	central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(55-57)aAa>aGa		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							74	80	78					1																	214787153		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214787153A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.56A>G	1.37:g.214787153A>G	ENSP00000355922:p.Lys19Arg						p.K19R	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	1	230	+			19			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.56A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.035572	0.93630	.	.	ENSG00000117724	ENST00000366955	T	0.36520	1.25	5.05	5.05	0.67936	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.34959	N	0.003541	T	0.61515	0.2353	.	.	.	0.46499	D	0.999079	D	0.89917	1.0	D	0.97110	1.0	T	0.66650	-0.5870	9	0.66056	D	0.02	.	15.0963	0.72238	1.0:0.0:0.0:0.0	.	19	P49454	CENPF_HUMAN	R	19	ENSP00000355922:K19R	ENSP00000355922:K19R	K	+	2	0	CENPF	212853776	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.199000	0.77831	2.034000	0.60081	0.455000	0.32223	AAA		0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214787153	A	G	214787153	3	3	4	1	0	0	0	0	1	0	0	0	3231	14	1	4	58	4	CENPF	1	214787153	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	33815343	214787153	34463468	8	202											
OBSCN	84033	broad.mit.edu	37	chr1	228504460	228504460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgcggcggtccgggccGgcgcacaggcatgcttcacc	8	4	14	15	6	1	0	1	0	0	0	2	0	2	0	3	5	2	3	3	5	2	1	rs577609031	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:228504460G>A	ENST00000422127.1	+	51	13380	c.13336G>A	c.(13336-13338)Ggc>Agc	p.G4446S	OBSCN_ENST00000284548.11_Missense_Mutation_p.G4446S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2080S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G5403S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1565S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4446	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGGCCGGCGCACAGGC	0.672													g|||	2	0.000399361	0	0	5008	,	,		14779	0.001		0.001	False		,,,				2504	0					uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13336-13338)Ggc>Agc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							14	18	17					1																	228504460		2050	4173	6223	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228504460G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13336G>A	1.37:g.228504460G>A	ENSP00000409493:p.Gly4446Ser					OBSCN_uc001hsn.3_Missense_Mutation_p.G4446S	p.G4446S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			50	13380	+		Prostate(94;0.0405)	4446			Ig-like 46.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13336G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	32	5.105745	0.94292	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	D;D;T;T	0.83914	-1.78;-1.78;-0.65;-0.3	5.14	4.21	0.49690	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.069314	0.56097	D	0.000025	D	0.89424	0.6711	M	0.67517	2.055	0.52099	D	0.99994	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.972	D	0.88642	0.3176	10	0.38643	T	0.18	.	15.6348	0.76944	0.0:0.138:0.862:0.0	.	4446;4446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	4446;4446;2080;1565	ENSP00000284548:G4446S;ENSP00000409493:G4446S;ENSP00000355668:G2080S;ENSP00000355670:G1565S	ENSP00000284548:G4446S	G	+	1	0	OBSCN	226571083	1.000000	0.71417	0.019000	0.16419	0.000000	0.00434	7.063000	0.76714	1.140000	0.42260	-0.324000	0.08512	GGC		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504460	G	A	228504460	3	1	4	1	0	0	0	0	1	0	0	0	10812	1116	39	2	13534	2	OBSCN	1	228504460	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	13717307	228504460	20746161	9	203											
OR2L13	284521	broad.mit.edu	37	chr1	248263034	248263034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgacctccatggcctaCgaccgttatttggccatctg	6	12	8	15	2	1	1	0	1	1	0	3	2	3	1	6	2	1	1	6	2	2	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:248263034C>T	ENST00000358120.2	+	2	502	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_ENST00000366478.2_Silent_p.Y119Y			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGGCCTACGACCGTTATT	0.512																																						uc001ids.3																			2	Substitution - coding silent(2)	p.Y119Y(3)|p.A118E(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(355-357)taC>taT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							221	206	211					1																	248263034		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263034C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.357C>T	1.37:g.248263034C>T						OR2L13_uc021pmc.1_Silent_p.Y119Y	p.Y119Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	694	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.357C>T	CCDS1637.1																																																																																				0.512	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		T	248263034	C	T	248263034	2	4	4	1	0	0	0	0	0	0	0	1	11006	547	19	1		1	OR2L13	1	248263034	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	19758574	248263034	987587	10	204											
IL1RN	3557	broad.mit.edu	37	chr2	113890330	113890330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccaccagttttgagtctgCcgcctgccccggttggttcc	4	11	10	16	2	1	1	0	1	1	0	2	1	2	1	7	2	2	3	7	2	0	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:113890330C>A	ENST00000409930.3	+	4	480	c.416C>A	c.(415-417)gCc>gAc	p.A139D	IL1RN_ENST00000361779.3_Missense_Mutation_p.A105D|IL1RN_ENST00000409052.1_Missense_Mutation_p.A105D|IL1RN_ENST00000259206.5_Missense_Mutation_p.A142D|IL1RN_ENST00000354115.2_Missense_Mutation_p.A121D	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	139					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	TTTGAGTCTGCCGCCTGCCCC	0.572									Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc002tjb.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(415-417)gCc>gAc		Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	Anakinra(DB00026)						97	98	97					2																	113890330		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113890330C>A	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.416C>A	2.37:g.113890330C>A	ENSP00000387173:p.Ala139Asp					IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.A142D|IL1RN_uc002tiy.3_Missense_Mutation_p.A105D|IL1RN_uc002tja.3_Missense_Mutation_p.A121D	p.A139D	NM_173842	NP_776215	P18510	IL1RA_HUMAN			3	480	+			139					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.416C>A	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360769	0.41801	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.8	1.93	0.25924	Interleukin-1 conserved site (1);	0.385977	0.31438	N	0.007644	T	0.44912	0.1316	M	0.91768	3.24	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.31724	-0.9933	10	0.87932	D	0	-24.6594	8.3633	0.32372	0.0:0.6717:0.0:0.3283	.	139;121;142	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	D	105;105;142;121;139	ENSP00000387210:A105D;ENSP00000354816:A105D;ENSP00000259206:A142D;ENSP00000329072:A121D;ENSP00000387173:A139D	ENSP00000259206:A142D	A	+	2	0	IL1RN	113606801	0.001000	0.12720	0.003000	0.11579	0.185000	0.23345	0.008000	0.13197	0.361000	0.24292	0.655000	0.94253	GCC		0.572	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		A	113890330	C	A	113890330	3	1	4	1	0	0	0	0	1	0	0	0	7665	739	26	5	511	5	IL1RN	2	113890330	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		113890330	129309043	11	205											
PPIG	9360	broad.mit.edu	37	chr2	170494029	170494029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacagatgaagacaaaagcgGatgagtgagttatataaact	19	8	10	4	1	0	5	0	3	0	2	0	6	0	6	0	1	3	1	0	1	8	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:170494029G>C	ENST00000260970.3	+	14	2481	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	PPIG_ENST00000409714.3_Missense_Mutation_p.G739A|PPIG_ENST00000448752.2_Missense_Mutation_p.G754A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	754					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAAAAGCGGATGAGTGAGT	0.313																																						uc002uez.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2260-2262)gGa>gCa		Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	L-Proline(DB00172)						31	34	33					2																	170494029		2003	3786	5789	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170494029G>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2261G>C	2.37:g.170494029G>C	ENSP00000260970:p.Gly754Ala					PPIG_uc010fpx.3_Missense_Mutation_p.G739A|PPIG_uc010fpy.3_Missense_Mutation_p.G747A|PPIG_uc002ufb.3_Missense_Mutation_p.G754A|PPIG_uc002ufd.3_Missense_Mutation_p.G751A	p.G754A	NM_004792	NP_004783	Q13427	PPIG_HUMAN			13	2481	+			754					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2261G>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832089	0.50845	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.21191	2.04;2.02;2.04	6.08	6.08	0.98989	.	0.000000	0.56097	D	0.000024	T	0.34658	0.0905	N	0.19112	0.55	0.37876	D	0.930219	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	T	0.22103	-1.0226	10	0.87932	D	0	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	739;739;754	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	A	754;739;754	ENSP00000260970:G754A;ENSP00000386245:G739A;ENSP00000407083:G754A	ENSP00000260970:G754A	G	+	2	0	PPIG	170202275	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.712000	0.61888	2.894000	0.99253	0.591000	0.81541	GGA		0.313	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			C	170494029	G	C	170494029	3	2	4	1	0	0	0	0	1	0	0	0	12324	1174	41	5	2307	5	PPIG	2	170494029	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	56603699	170494029	72705344	12	206											
TTN	7273	broad.mit.edu	37	chr2	179412263	179412263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttaatttgagtgcgctTgacactggaattgacaagct	11	13	10	7	1	0	3	0	3	0	0	0	5	0	4	0	1	2	2	0	1	3	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:179412263T>C	ENST00000591111.1	-	289	89391	c.89167A>G	c.(89167-89169)Aag>Gag	p.K29723E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K22299E|TTN_ENST00000589042.1_Missense_Mutation_p.K31364E|TTN_ENST00000359218.5_Missense_Mutation_p.K22424E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28796E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22491E|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29723	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGCGCTTGACACTGGAA	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86386-86388)Aag>Gag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							78	77	77					2																	179412263		1899	4118	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412263T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89167A>G	2.37:g.179412263T>C	ENSP00000465570:p.Lys29723Glu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22491E|TTN_uc021vta.1_Missense_Mutation_p.K22424E|TTN_uc021vtb.1_Missense_Mutation_p.K22299E	p.K28796E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	86611	-			29723			Fibronectin type-III 110.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86386A>G		.	.	.	.	.	.	.	.	.	.	T	17.54	3.414825	0.62511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68449	0.3002	L	0.49350	1.555	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70868	-0.4755	9	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	22299;22424;22491;29723	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	28796;22299;22491;22424;22296	ENSP00000343764:K28796E;ENSP00000434586:K22299E;ENSP00000340554:K22491E;ENSP00000352154:K22424E	ENSP00000340554:K22491E	K	-	1	0	TTN	179120509	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.242000	0.72376	2.255000	0.74692	0.533000	0.62120	AAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179412263	T	C	179412263	3	2	4	1	0	0	0	0	1	0	0	0	16732	1821	63	4	13985	4	TTN	2	179412263	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	8918234	179412263	63787110	13	207											
COL6A3	1293	broad.mit.edu	37	chr2	238275663	238275663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttacccgcaggtgctcaaGgcccaccttagtgttggcgt	6	11	12	12	2	1	0	1	0	0	0	1	0	1	0	3	3	2	4	3	3	3	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:238275663G>A	ENST00000295550.4	-	11	5619	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	COL6A3_ENST00000409809.1_Missense_Mutation_p.L1517F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1116F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1522F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1517F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1523F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1723	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L1723I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGCTCAAGGCCCACCTTA	0.547																																						uc002vwl.2																			1	Substitution - Missense(1)	p.L1723I(2)	lung(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5167-5169)Ctt>Ttt		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							88	74	79					2																	238275663		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275663G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5167C>T	2.37:g.238275663G>A	ENSP00000295550:p.Leu1723Phe					COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	p.L1723F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5452	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1723			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5167C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.020955	0.19433	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.56	-11.1	0.00147	von Willebrand factor, type A (3);	0.384550	0.21216	N	0.078240	D	0.91405	0.7288	M	0.79926	2.475	0.23082	N	0.998324	D;D;P	0.71674	0.998;0.991;0.782	D;P;B	0.70935	0.971;0.908;0.42	D	0.90520	0.4488	10	0.72032	D	0.01	.	21.1142	0.99946	0.0:0.0614:0.0909:0.8477	.	1116;1517;1723	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	F	1723;1522;1517;1116;1517;1523	ENSP00000295550:L1723F;ENSP00000315609:L1522F;ENSP00000315873:L1517F;ENSP00000418285:L1116F;ENSP00000386844:L1517F;ENSP00000295546:L1523F	ENSP00000295550:L1723F	L	-	1	0	COL6A3	237940402	0.369000	0.25039	0.005000	0.12908	0.088000	0.18126	-0.424000	0.07025	-2.547000	0.00482	-1.036000	0.02392	CTT		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238275663	G	A	238275663	3	1	4	1	0	0	0	0	1	0	0	0	3701	1000	35	3	4502	3	COL6A3	2	238275663	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	58863400	238275663	4923710	14	208											
ITPR1	3708	broad.mit.edu	37	chr3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaattgcagaacttcctccGttgccaaaataacaagacca	15	8	5	13	1	0	2	0	0	0	2	2	2	2	2	5	0	4	2	5	0	6	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:4816936G>A	ENST00000443694.2	+	44	5945	c.5945G>A	c.(5944-5946)cGt>cAt	p.R1982H	ITPR1_ENST00000423119.2_Missense_Mutation_p.R1949H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1949H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1982H|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1982H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1934H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1997					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACTTCCTCCGTTGCCAAAAT	0.483																																						uc003bqc.3																			0		p.L1982L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5944-5946)cGt>cAt		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							147	144	145					3																	4816936		1925	4145	6070	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4816936G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5945G>A	3.37:g.4816936G>A	ENSP00000401671:p.Arg1982His					ITPR1_uc021wsi.1_Missense_Mutation_p.R1949H|ITPR1_uc021wsj.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.2_Intron	p.R1982H	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	45	6295	+			1997					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5945G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399431	0.96030	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.04	5.04	0.67666	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99198	1.0872	10	0.59425	D	0.04	.	18.4209	0.90590	0.0:0.0:1.0:0.0	.	1997;1949	Q14643;G5E9P1	ITPR1_HUMAN;.	H	1997;1982;1982;1949;443;1949;1934;1982	ENSP00000306253:R1982H;ENSP00000346595:R1982H;ENSP00000405934:R1949H;ENSP00000349597:R1949H;ENSP00000397885:R1934H;ENSP00000401671:R1982H	ENSP00000306253:R1982H	R	+	2	0	ITPR1	4791936	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.787000	0.99055	2.349000	0.79799	0.655000	0.94253	CGT		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4816936	G	A	4816936	3	1	4	1	0	0	0	0	1	0	0	0	7920	1145	40	1	6168	1	ITPR1	3	4816936	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		4816936	193205494	15	209											
FGD5	152273	broad.mit.edu	37	chr3	14905722	14905722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagagcagagaagctcGgaggaggaggacagtgcttc	13	5	17	6	1	0	3	0	1	0	2	2	9	0	7	0	4	3	3	0	4	2	1	rs267599640|rs549156584	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:14905722G>A	ENST00000285046.5	+	2	2723	c.2613G>A	c.(2611-2613)tcG>tcA	p.S871S	FGD5_ENST00000543601.1_Silent_p.S630S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	871					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAGAAGCTCGGAGGAGGAGG	0.597																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2611-2613)tcG>tcA		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							91	96	94					3																	14905722		2027	4172	6199	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14905722G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2613G>A	3.37:g.14905722G>A						FGD5_uc011avk.2_Silent_p.S871S	p.S871S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	2723	+			871					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2613G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	4.379	0.069860	0.08436	.	.	ENSG00000154783	ENST00000457774	.	.	.	4.37	-8.75	0.00834	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.38757	-0.9646	4	.	.	.	-11.4298	2.0627	0.03596	0.4185:0.0816:0.2677:0.2322	.	.	.	.	R	85	.	.	G	+	1	0	FGD5	14880726	0.000000	0.05858	0.124000	0.21820	0.572000	0.35998	-2.662000	0.00850	-2.383000	0.00592	-1.314000	0.01303	GGA		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14905722	G	A	14905722	2	1	4	1	0	0	0	0	0	0	0	1	5836	1103	39	2		2	FGD5	3	14905722	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	10088786	14905722	183116708	16	210											
CTBP1	1487	broad.mit.edu	37	chr4	1209830	1209830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtgctcgttgaggccGcagtgcagggtcacgcagtc	5	10	16	10	3	1	1	1	1	0	0	3	1	1	1	1	3	2	6	1	3	0	2	rs374344295		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:1209830G>A	ENST00000290921.6	-	5	892	c.711C>T	c.(709-711)tgC>tgT	p.C237C	CTBP1_ENST00000382952.3_Silent_p.C226C	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	237					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGTTGAGGCCGCAGTGCAGGG	0.637																																						uc003gcw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(709-711)tgC>tgT		Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.		G	,	1,4401	2.1+/-5.4	0,1,2200	115	94	101		678,711	3.8	1	4		101	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CTBP1	NM_001012614.1,NM_001328.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	226/430,237/441	1209830	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1209830G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.711C>T	4.37:g.1209830G>A						AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcv.1_Silent_p.C237C	p.C237C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	4	876	-			237					Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.711C>T	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	4.680	0.126494	0.08931	2.27E-4	0.0	ENSG00000159692	ENST00000504092	.	.	.	4.62	3.76	0.43208	.	.	.	.	.	T	0.69269	0.3092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67772	-0.5584	4	.	.	.	-20.8454	13.929	0.63981	0.0:0.0:0.8466:0.1534	.	.	.	.	W	84	.	.	R	-	1	2	CTBP1	1199830	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	3.001000	0.49488	0.901000	0.36495	0.561000	0.74099	CGG		0.637	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		A	1209830	G	A	1209830	2	1	4	1	0	0	0	0	0	0	0	1	3997	1079	38	1		1	CTBP1	4	1209830	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08		1209830	189944446	17	211											
HGFAC	3083	broad.mit.edu	37	chr4	3449235	3449235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccccccagggacagcGtctccgtggtgctgggccag	6	5	14	16	2	1	0	0	0	1	0	2	1	1	1	5	3	3	1	5	3	0	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3449235G>A	ENST00000382774.3	+	11	1487	c.1372G>A	c.(1372-1374)Gtc>Atc	p.V458I	HGFAC_ENST00000511533.1_Missense_Mutation_p.V465I	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	458	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGACAGCGTCTCCGTGGT	0.667																																						uc003ghc.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1372-1374)Gtc>Atc		Homo sapiens HGF activator (HGFAC), mRNA.							95	86	89					4																	3449235		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449235G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1372G>A	4.37:g.3449235G>A	ENSP00000372224:p.Val458Ile					HGFAC_uc010icw.3_Missense_Mutation_p.V465I	p.V458I	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	10	1375	+			458			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1372G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.285812	0.01387	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.89050	-2.46;-2.46	3.58	1.77	0.24775	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.272209	0.29522	N	0.011904	T	0.71953	0.3401	N	0.10733	0.035	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.10450	0.005;0.004	T	0.56372	-0.7990	10	0.16420	T	0.52	.	5.8414	0.18635	0.4752:0.0:0.5248:0.0	.	465;458	D6RAR4;Q04756	.;HGFA_HUMAN	I	458;465	ENSP00000372224:V458I;ENSP00000421801:V465I	ENSP00000372224:V458I	V	+	1	0	HGFAC	3419033	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-0.670000	0.05256	0.302000	0.22762	0.555000	0.69702	GTC		0.667	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3449235	G	A	3449235	3	1	4	1	0	0	0	0	1	0	0	0	7086	1145	40	1	1414	1	HGFAC	4	3449235	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	2239405	3449235	187705041	18	212											
ADRA2C	152	broad.mit.edu	37	chr4	3769412	3769412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcttcctgtcgcgccGgcgccgggcgcgcagcagcg	3	6	16	16	9	1	0	0	0	1	0	3	1	2	0	3	2	2	3	3	2	0	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3769412G>A	ENST00000330055.5	+	1	1288	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	360					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R360Q(1)|p.R360L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGTCGCGCCGGCGCCGGGCG	0.746																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.3																			2	Substitution - Missense(2)	p.R360Q(2)|p.R360L(2)	lung(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1078-1080)cGg>cAg		Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						18	20	19					4																	3769412		2025	4144	6169	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769412G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1079G>A	4.37:g.3769412G>A	ENSP00000386069:p.Arg360Gln						p.R360Q	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	1117	+			360					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1079G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167716	0.21621	.	.	ENSG00000184160	ENST00000330055	T	0.65178	-0.14	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47875	0.1469	L	0.58101	1.795	0.32340	N	0.559905	P	0.35348	0.496	B	0.22753	0.041	T	0.52518	-0.8565	9	0.14656	T	0.56	.	7.9953	0.30265	0.1146:0.0:0.8854:0.0	.	360	P18825	ADA2C_HUMAN	Q	360	ENSP00000386069:R360Q	ENSP00000386069:R360Q	R	+	2	0	ADRA2C	3739210	1.000000	0.71417	0.992000	0.48379	0.915000	0.54546	6.835000	0.75344	1.696000	0.51158	0.511000	0.50034	CGG		0.746	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		A	3769412	G	A	3769412	3	1	4	1	0	0	0	0	1	0	0	0	339	1116	39	2	1081	2	ADRA2C	4	3769412	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	320177	3769412	187384864	19	213											
AFM	173	broad.mit.edu	37	chr4	74354406	74354406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaaggagcttatttctcTtgtagaagatgtttcttcca	10	18	7	6	0	2	2	0	0	2	2	4	3	3	3	1	1	1	3	1	1	4	8	rs139224995	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:74354406T>C	ENST00000226355.3	+	7	866	c.773T>C	c.(772-774)cTt>cCt	p.L258P		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	258	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTATTTCTCTTGTAGAAGAT	0.353																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(772-774)cTt>cCt		Homo sapiens afamin (AFM), mRNA.		T	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	116	118	118		773	5.4	0	4	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AFM	NM_001133.2	98	0,3,6500	CC,CT,TT		0.0233,0.0227,0.0231	probably-damaging	258/600	74354406	3,13003	2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74354406T>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.773T>C	4.37:g.74354406T>C	ENSP00000226355:p.Leu258Pro						p.L258P	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	804	+	Breast(15;0.00102)		258			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.773T>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.684041	0.29872	2.27E-4	2.33E-4	ENSG00000079557	ENST00000226355	D	0.83755	-1.76	5.36	5.36	0.76844	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.420015	0.23859	N	0.043872	D	0.91250	0.7242	M	0.86740	2.835	0.26330	N	0.977538	D	0.76494	0.999	D	0.72338	0.977	D	0.85776	0.1358	10	0.87932	D	0	.	11.7832	0.52026	0.0:0.0:0.0:1.0	.	258	P43652	AFAM_HUMAN	P	258	ENSP00000226355:L258P	ENSP00000226355:L258P	L	+	2	0	AFM	74573270	0.027000	0.19231	0.036000	0.18154	0.005000	0.04900	2.447000	0.44917	2.042000	0.60477	0.533000	0.62120	CTT		0.353	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			C	74354406	T	C	74354406	3	2	4	1	0	0	0	0	1	0	0	0	361	1609	56	4	799	4	AFM	4	74354406	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	70584994	74354406	116799870	20	214											
FAT4	79633	broad.mit.edu	37	chr4	126373451	126373451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaagagaacaatagaacGtttcttttggcagctgtgaa	14	12	10	5	1	1	4	0	2	1	2	1	5	1	4	0	1	3	3	0	1	7	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:126373451G>A	ENST00000394329.3	+	9	11293	c.11280G>A	c.(11278-11280)acG>acA	p.T3760T	FAT4_ENST00000335110.5_Silent_p.T2058T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3760					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATAGAACGTTTCTTTTGG	0.453																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11278-11280)acG>acA		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							106	102	104					4																	126373451		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373451G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11280G>A	4.37:g.126373451G>A						FAT4_uc011cgp.2_Silent_p.T2058T|FAT4_uc003ifi.1_Silent_p.T1238T	p.T3760T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			8	11280	+			3760					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.11280G>A	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126373451	G	A	126373451	2	1	4	1	0	0	0	0	0	0	0	1	5692	1132	40	1		1	FAT4	4	126373451	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	52019045	126373451	64780825	21	215											
ENPP6	133121	broad.mit.edu	37	chr4	185074883	185074883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggacttcacaatggCggcctatgtcaatgagaaca	12	10	10	9	1	3	2	2	2	1	1	3	4	3	3	1	3	1	0	1	3	4	2	rs142786439		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:185074883C>T	ENST00000296741.2	-	2	386	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	82					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.R82H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCACAATGGCGGCCTATGTC	0.453																																						uc003iwc.3																			1	Substitution - Missense(1)	p.R82H(2)|p.R82C(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(244-246)cGc>cAc		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111	102	105		245	5.4	1	4	dbSNP_134	105	0,8600		0,0,4300	no	missense	ENPP6	NM_153343.3	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	82/441	185074883	3,13003	2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074883C>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.245G>A	4.37:g.185074883C>T	ENSP00000296741:p.Arg82His						p.R82H	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	1	387	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	82					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.245G>A	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757457	0.69648	6.81E-4	0.0	ENSG00000164303	ENST00000296741	T	0.73047	-0.71	5.44	5.44	0.79542	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86662	0.1905	10	0.87932	D	0	-18.2652	19.2788	0.94042	0.0:1.0:0.0:0.0	.	82	Q6UWR7	ENPP6_HUMAN	H	82	ENSP00000296741:R82H	ENSP00000296741:R82H	R	-	2	0	ENPP6	185311877	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	7.487000	0.81328	2.567000	0.86603	0.655000	0.94253	CGC		0.453	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		T	185074883	C	T	185074883	3	4	4	1	0	0	0	0	1	0	0	0	5134	768	27	1	1105	1	ENPP6	4	185074883	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	58701432	185074883	6079393	22	216											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163558	163558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacagagaagaagctccCgctgtggcagcatgccagga	12	4	13	12	1	0	2	0	0	0	2	1	4	1	3	3	2	4	4	3	2	2	0	rs148435989		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:163558C>T	ENST00000283426.6	+	11	2353	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAAGCTCCCGCTGTGGCAG	0.652																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2302-2304)cCg>cTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.		C	LEU/PRO	2,4402		0,2,2200	36	42	40		2303	-4.4	0	5	dbSNP_134	40	0,8594		0,0,4297	no	missense	PLEKHG4B	NM_052909.3	98	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	768/1272	163558	2,12996	2202	4297	6499	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163558C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2303C>T	5.37:g.163558C>T	ENSP00000283426:p.Pro768Leu						p.P768L	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	2353	+			768						Missense_Mutation	SNP	ENST00000283426.6	37	c.2303C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188482	0.01607	4.54E-4	0.0	ENSG00000153404	ENST00000283426	T	0.28454	1.61	2.45	-4.41	0.03590	.	.	.	.	.	T	0.12774	0.0310	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26155	-1.0111	9	0.30078	T	0.28	.	4.4532	0.11630	0.0:0.475:0.2016:0.3234	.	768	Q96PX9	PKH4B_HUMAN	L	768	ENSP00000283426:P768L	ENSP00000283426:P768L	P	+	2	0	PLEKHG4B	216558	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	-0.034000	0.12225	-0.468000	0.06922	-2.087000	0.00375	CCG		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	163558	C	T	163558	3	4	4	1	0	0	0	0	1	0	0	0	12072	652	23	2	2345	2	PLEKHG4B	5	163558	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		163558	180751702	23	217											
IPO11	51194	broad.mit.edu	37	chr5	61887491	61887491	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatcctgaaacaggaacTtataaagagtaggtgcatta	17	9	10	5	0	0	3	0	1	0	2	1	5	1	4	1	2	3	2	1	2	8	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:61887491T>A	ENST00000325324.6	+	28	2839	c.2670T>A	c.(2668-2670)acT>acA	p.T890T	IPO11_ENST00000409296.3_Silent_p.T930T|IPO11_ENST00000409534.1_Silent_p.T9T	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	890					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAACAGGAACTTATAAAGAGT	0.338																																						uc011cqr.2																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(2788-2790)acT>acA		Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.							71	72	71					5																	61887491		2203	4298	6501	SO:0001819	synonymous_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61887491T>A	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2670T>A	5.37:g.61887491T>A						IPO11_uc003jtc.3_Silent_p.T890T|IPO11_uc003jte.3_Silent_p.T9T	p.T930T	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	27	2920	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	890					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	c.2790T>A	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282204	0.23392	.	.	ENSG00000086200	ENST00000511713	.	.	.	5.42	-0.54	0.11861	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	2.8948	0.05687	0.4804:0.0692:0.124:0.3264	.	.	.	.	H	155	.	.	L	+	2	0	IPO11	61923247	0.251000	0.23961	0.987000	0.45799	0.996000	0.88848	-0.586000	0.05787	-0.010000	0.14271	0.533000	0.62120	CTT		0.338	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		A	61887491	T	A	61887491	2	1	4	1	0	0	0	0	0	0	0	1	7793	1596	56	5		5	IPO11	5	61887491	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	61723933	61887491	119027769	24	218											
SLC27A6	28965	broad.mit.edu	37	chr5	128301930	128301930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggatgacttctggttcGtgttgaaggtggtgctcatt	5	17	14	5	1	2	2	1	2	1	0	3	3	2	3	0	4	1	3	0	4	1	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:128301930G>A	ENST00000262462.4	+	1	1110	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V34M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V34M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	34					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTCTGGTTCGTGTTGAAGGT	0.463																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(100-102)Gtg>Atg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							111	110	111					5																	128301930		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128301930G>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.100G>A	5.37:g.128301930G>A	ENSP00000262462:p.Val34Met					SLC27A6_uc003kuz.3_Missense_Mutation_p.V34M	p.V34M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	496	+		all_cancers(142;0.0483)|Prostate(80;0.055)	34					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.100G>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	3.294	-0.144404	0.06627	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50277	0.75;0.75;0.75	4.31	-0.586	0.11694	.	0.143244	0.46758	D	0.000276	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.17433	0.018	T	0.07065	-1.0792	10	0.45353	T	0.12	-5.057	2.658	0.05018	0.116:0.4866:0.1145:0.2829	.	34	Q9Y2P4	S27A6_HUMAN	M	34	ENSP00000262462:V34M;ENSP00000378684:V34M;ENSP00000421024:V34M	ENSP00000262462:V34M	V	+	1	0	SLC27A6	128329829	0.046000	0.20272	0.316000	0.25252	0.003000	0.03518	-0.539000	0.06113	-0.130000	0.11599	-0.391000	0.06502	GTG		0.463	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		A	128301930	G	A	128301930	3	1	4	1	0	0	0	0	1	0	0	0	14530	1145	40	1	102	1	SLC27A6	5	128301930	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	66414439	128301930	52613330	25	219											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712400	140712400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctggcgcacaggctgCggcgctggcacaagtcacgt	6	7	15	13	4	1	0	1	0	0	0	1	0	1	0	0	4	3	6	0	4	1	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:140712400C>T	ENST00000517417.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R717W	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGGCTGCGGCGCTGGCA	0.657																																						uc003lji.2																			0		p.C716*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2149-2151)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							63	70	67					5																	140712400		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712400C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2149C>T	5.37:g.140712400C>T	ENSP00000431083:p.Arg717Trp					PCDHGC5_uc011dan.2_Missense_Mutation_p.R717W	p.R717W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2149	+			718					Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2149C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978977	0.18812	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.53206	0.64;0.63	4.04	-8.08	0.01094	.	0.164215	0.26944	N	0.021706	T	0.36358	0.0964	M	0.66560	2.04	0.09310	N	1	B;B	0.14805	0.004;0.011	B;B	0.20184	0.004;0.028	T	0.17471	-1.0368	10	0.48119	T	0.1	.	9.0484	0.36360	0.6119:0.2591:0.0:0.1289	.	717;717	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	717	ENSP00000431083:R717W;ENSP00000367345:R717W	ENSP00000367345:R717W	R	+	1	2	PCDHGA1	140692584	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.122000	0.03267	-1.516000	0.01782	-0.224000	0.12420	CGG		0.657	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140712400	C	T	140712400	3	4	4	1	0	0	0	0	1	0	0	0	11550	759	27	1	2151	1	PCDHGA1	5	140712400	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	12410470	140712400	40202860	26	220											
FAM153C	653316	broad.mit.edu	37	chr5	177466410	177466410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgggagttccacaacGtggtacgtattggggaaccc	9	10	12	10	2	0	0	0	0	0	0	2	2	2	2	3	4	3	3	3	4	4	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:177466410G>A	ENST00000507848.1	+	6	332	c.131G>A	c.(130-132)cGt>cAt	p.R44H	FAM153C_ENST00000511189.1_Missense_Mutation_p.R73H|FAM153C_ENST00000398106.2_Missense_Mutation_p.R44H			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C	44										kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCACAACGTGGTACGTAT	0.478																																						uc011dge.2																			0				kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(130-132)cGt>cAt		Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.							177	195	189					5																	177466410		2201	4298	6499	SO:0001583	missense	653316							g.chr5:177466410G>A	BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.131G>A	5.37:g.177466410G>A	ENSP00000424623:p.Arg44His						p.R44H					Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	338	+	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						A4IF33|B2RUV5|B7ZW12	Missense_Mutation	SNP	ENST00000507848.1	37	c.131G>A		.	.	.	.	.	.	.	.	.	.	G	6.180	0.401339	0.11696	.	.	ENSG00000204677	ENST00000507848;ENST00000398106;ENST00000511856;ENST00000511189	.	.	.	1.11	-2.21	0.06973	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.09310	N	1	D	0.63880	0.993	P	0.47573	0.55	T	0.07597	-1.0764	6	.	.	.	.	0.0727	0.00024	0.3091:0.2469:0.1991:0.2449	.	44	Q494X1	F153C_HUMAN	H	44;44;121;73	.	.	R	+	2	0	FAM153C	177399016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.199000	0.01238	-2.012000	0.00950	-1.274000	0.01402	CGT		0.478	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1	NM_001079527		A	177466410	G	A	177466410	3	1	4	1	0	0	0	0	1	0	0	0	5462	1145	40	1	145	1	FAM153C	5	177466410	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	36754010	177466410	3448850	27	221											
ZC3H12D	340152	broad.mit.edu	37	chr6	149795611	149795611	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgcccagcttgcccaaCacccggagcacatcctcccg	7	5	7	22	3	0	0	0	0	0	0	3	1	2	1	6	1	4	2	6	1	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr6:149795611C>A	ENST00000409806.3	-	2	387	c.69G>T	c.(67-69)gtG>gtT	p.V23V	ZC3H12D_ENST00000416573.2_Silent_p.V23V|ZC3H12D_ENST00000409948.1_Silent_p.V23V|ZC3H12D_ENST00000542614.1_Silent_p.V23V|ZC3H12D_ENST00000389942.5_Silent_p.V23V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	23					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTGCCCAACACCCGGAGCA	0.677																																						uc010kid.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(67-69)gtG>gtT		Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.							17	19	18					6																	149795611		1962	4150	6112	SO:0001819	synonymous_variant	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149795611C>A			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.69G>T	6.37:g.149795611C>A						ZC3H12D_uc003qmn.1_Silent_p.V23V	p.V23V	NM_207360	NP_997243	A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	1	339	-		Ovarian(120;0.0907)	23					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Silent	SNP	ENST00000409806.3	37	c.69G>T																																																																																					0.677	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		A	149795611	C	A	149795611	2	1	4	1	0	0	0	0	0	0	0	1	17561	465	17	5		5	ZC3H12D	6	149795611	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		149795611	21319456	28	222											
CYCS	54205	broad.mit.edu	37	chr7	25163649	25163649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagaccatggagatttggCccagtcttgtgcttgcctcc	8	11	11	11	0	1	2	0	0	1	2	2	4	2	2	4	2	2	1	4	2	1	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:25163649C>T	ENST00000305786.2	-	2	259	c.90G>A	c.(88-90)ggG>ggA	p.G30G	CYCS_ENST00000409764.1_Silent_p.G30G|CYCS_ENST00000409409.1_Silent_p.G30G	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	30					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443																																						uc003sxl.3																			0				endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(88-90)ggG>ggA		Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	Melatonin(DB01065)|Minocycline(DB01017)						54	56	56					7																	25163649		2203	4300	6503	SO:0001819	synonymous_variant	54205				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	g.chr7:25163649C>T	M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.90G>A	7.37:g.25163649C>T							p.G30G	NM_018947	NP_061820	P99999	CYC_HUMAN			1	260	-			30					A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Silent	SNP	ENST00000305786.2	37	c.90G>A	CCDS5393.1																																																																																				0.443	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			T	25163649	C	T	25163649	2	4	4	1	0	0	0	0	0	0	0	1	4136	726	26	3		3	CYCS	7	25163649	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		25163649	133975014	29	223											
JHDM1D	80853	broad.mit.edu	37	chr7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactccaagattcataaCgtgccaaattttcatctgtt	13	14	5	9	1	3	2	2	1	1	1	4	2	4	2	2	0	3	1	2	0	4	5	rs369398521		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:139824534C>T	ENST00000397560.2	-	7	1035	c.938G>A	c.(937-939)cGt>cAt	p.R313H	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R313H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		313	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(937-939)cGt>cAt		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.		C	HIS/ARG	0,3682		0,0,1841	95	86	89		938	4.3	1	7		89	3,8177		0,3,4087	no	missense	JHDM1D	NM_030647.1	29	0,3,5928	TT,TC,CC		0.0367,0.0,0.0253	benign	313/942	139824534	3,11859	1841	4090	5931	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139824534C>T																												ENST00000397560.2:c.938G>A	7.37:g.139824534C>T	ENSP00000380692:p.Arg313His						p.R313H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			6	942	-	Melanoma(164;0.0142)		313			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.938G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577367	0.65878	0.0	3.67E-4	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.71817	-0.6;-0.6	5.49	4.34	0.51931	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.060735	0.64402	D	0.000002	T	0.52435	0.1734	N	0.16656	0.425	0.35337	D	0.786138	B	0.30686	0.29	B	0.13407	0.009	T	0.62296	-0.6884	10	0.87932	D	0	-3.5299	12.7856	0.57502	0.8568:0.1432:0.0:0.0	.	313	Q6ZMT4	KDM7_HUMAN	H	313	ENSP00000380692:R313H;ENSP00000006967:R313H	ENSP00000006967:R313H	R	-	2	0	JHDM1D	139471003	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.085000	0.64468	1.021000	0.39600	-0.262000	0.10625	CGT		0.358	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			T	139824534	C	T	139824534	3	4	4	1	0	0	0	0	1	0	0	0	7948	536	19	1	1943	1	JHDM1D	7	139824534	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	114660885	139824534	19314129	30	224											
OR2A2	442361	broad.mit.edu	37	chr7	143807248	143807248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggcctgtgctgacacCtgggttaaccaagtggtcat	9	10	12	10	0	1	1	1	1	0	0	1	1	1	1	3	3	3	3	3	3	3	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:143807248C>T	ENST00000408979.2	+	1	642	c.573C>T	c.(571-573)acC>acT	p.T191T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTGCTGACACCTGGGTTAACC	0.512																																						uc011ktz.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(571-573)acC>acT		Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.							133	135	134					7																	143807248		1981	4181	6162	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807248C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.573C>T	7.37:g.143807248C>T							p.T191T	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			0	573	+	Melanoma(164;0.0783)		191					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.573C>T	CCDS43671.1																																																																																				0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			T	143807248	C	T	143807248	2	4	4	1	0	0	0	0	0	0	0	1	10977	668	24	3		3	OR2A2	7	143807248	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	3982714	143807248	15331415	31	225											
PLAG1	5324	broad.mit.edu	37	chr8	57079222	57079222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgccaccttgtaactcCatcaggtaactctcaatttc	10	11	6	14	1	2	0	2	0	1	0	5	0	3	0	3	2	2	3	3	2	3	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:57079222C>T	ENST00000316981.3	-	5	1562	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	PLAG1_ENST00000429357.2_Missense_Mutation_p.M361I|PLAG1_ENST00000423799.2_Missense_Mutation_p.M279I	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M361I(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGTAACTCCATCAGGTAAC	0.438			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																	uc003xsq.4				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"TCEA1, LIFR, CTNNB1, CHCHD7"		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	1	Substitution - Missense(1)	p.M361I(2)	central_nervous_system(1)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1081-1083)atG>atA		Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.							125	120	122					8																	57079222		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079222C>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1083G>A	8.37:g.57079222C>T	ENSP00000325546:p.Met361Ile					PLAG1_uc003xsr.4_Missense_Mutation_p.M361I|PLAG1_uc010lyi.3_Missense_Mutation_p.M361I|PLAG1_uc010lyj.3_Missense_Mutation_p.M279I|PLAG1_uc022aur.1_Missense_Mutation_p.M279I	p.M361I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		2	1534	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	361			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1083G>A	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392808	0.11638	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12147	2.71;3.41;2.71	5.78	5.78	0.91487	.	0.170124	0.64402	D	0.000005	T	0.13670	0.0331	L	0.43152	1.355	0.58432	D	0.999994	P	0.44090	0.826	B	0.37780	0.258	T	0.10706	-1.0618	10	0.12103	T	0.63	-19.758	20.0024	0.97423	0.0:1.0:0.0:0.0	.	361	Q6DJT9	PLAG1_HUMAN	I	361;279;361	ENSP00000325546:M361I;ENSP00000404067:M279I;ENSP00000416537:M361I	ENSP00000325546:M361I	M	-	3	0	PLAG1	57241776	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.630000	0.61297	2.722000	0.93159	0.467000	0.42956	ATG		0.438	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		T	57079222	C	T	57079222	3	4	4	1	0	0	0	0	1	0	0	0	12018	594	21	3	423	3	PLAG1	8	57079222	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		57079222	89284800	32	226											
MATN2	4147	broad.mit.edu	37	chr8	99044505	99044505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatggaagacaggactcTccagcaggggaactgccaaa	13	5	12	11	1	1	1	0	0	1	1	3	5	2	4	3	4	3	1	3	4	3	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:99044505T>C	ENST00000520016.1	+	15	2665	c.2541T>C	c.(2539-2541)tcT>tcC	p.S847S	MATN2_ENST00000254898.5_Silent_p.S847S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.S806S|MATN2_ENST00000522025.2_Silent_p.S563S|MATN2_ENST00000521689.1_Silent_p.S847S			O00339	MATN2_HUMAN	matrilin 2	847						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGGACTCTCCAGCAGGGG	0.473																																						uc003yic.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(2539-2541)tcT>tcC		Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.							60	59	60					8																	99044505		1880	4106	5986	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99044505T>C	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2541T>C	8.37:g.99044505T>C						MATN2_uc010mbh.1_Silent_p.S806S|MATN2_uc003yid.3_Silent_p.S847S|MATN2_uc003yie.1_Silent_p.S847S|MATN2_uc010mbi.1_Silent_p.S680S|RPL30_uc010mbk.2_Intron	p.S847S	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		15	2772	+	Breast(36;1.43e-06)		847					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.2541T>C	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.32|10.32	1.317476|1.317476	0.23908|0.23908	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000519582;ENST00000522135|ENST00000518154	.|D	.|0.83591	.|-1.74	5.9|5.9	0.486|0.486	0.16836|0.16836	.|.	.|0.157471	.|0.35179	.|N	.|0.003384	T|T	0.73590|0.73590	0.3606|0.3606	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60311|0.60311	-0.7288|-0.7288	4|7	.|0.26408	.|T	.|0.33	-29.9176|-29.9176	1.1109|1.1109	0.01704|0.01704	0.3187:0.3596:0.1458:0.1759|0.3187:0.3596:0.1458:0.1759	.|.	.|.	.|.	.|.	P|P	103;10|630	.|ENSP00000429622:S630P	.|ENSP00000429622:S630P	L|S	+|+	2|1	0|0	MATN2|MATN2	99113681|99113681	0.853000|0.853000	0.29707|0.29707	0.997000|0.997000	0.53966|0.53966	0.942000|0.942000	0.58702|0.58702	-0.374000|-0.374000	0.07484|0.07484	0.057000|0.057000	0.16193|0.16193	-0.248000|-0.248000	0.11899|0.11899	CTC|TCC		0.473	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			C	99044505	T	C	99044505	2	2	4	1	0	0	0	0	0	0	0	1	9334	1538	54	4		4	MATN2	8	99044505	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	41965283	99044505	47319517	33	227											
C10orf18	54906	broad.mit.edu	37	chr10	5791482	5791482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatttctgcatcctgcacCtaggagcagaagcccccttc	8	9	7	17	0	1	1	0	0	1	1	3	2	2	2	5	1	4	3	5	1	2	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:5791482C>T	ENST00000328090.5	+	15	6723	c.6098C>T	c.(6097-6099)cCt>cTt	p.P2033L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2033																	CATCCTGCACCTAGGAGCAGA	0.547																																						uc001iij.3																			0											c.(6097-6099)cCt>cTt		Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.							112	117	115					10																	5791482		1937	4154	6091	SO:0001583	missense	54906							g.chr10:5791482C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6098C>T	10.37:g.5791482C>T	ENSP00000328426:p.Pro2033Leu					FAM208B_uc001iik.3_Missense_Mutation_p.P877L	p.P2033L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			14	6723	+			2033					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.6098C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	3.653	-0.071131	0.07228	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04156	3.69	5.92	1.75	0.24633	.	0.794758	0.11581	N	0.549698	T	0.04137	0.0115	L	0.34521	1.04	0.09310	N	0.999999	B	0.26318	0.146	B	0.22152	0.038	T	0.41270	-0.9518	10	0.42905	T	0.14	.	6.0531	0.19796	0.2482:0.5664:0.1198:0.0656	.	2033	Q5VWN6	F208B_HUMAN	L	2033;1228	ENSP00000328426:P2033L	ENSP00000328426:P2033L	P	+	2	0	C10orf18	5831488	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.350000	0.20079	0.389000	0.25086	-1.102000	0.02115	CCT		0.547	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5791482	C	T	5791482	3	4	4	1	0	0	0	0	1	0	0	0	1596	681	24	3	6144	3	C10orf18	10	5791482	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		5791482	129743265	34	228											
ARMC3	219681	broad.mit.edu	37	chr10	23250972	23250972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgctaagagacaatcaaGgattggaccatcttattaag	16	10	8	7	0	2	1	1	0	1	1	2	4	2	3	1	2	1	1	1	2	6	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:23250972G>A	ENST00000298032.5	+	7	781	c.697G>A	c.(697-699)Gga>Aga	p.G233R	ARMC3_ENST00000409049.3_Missense_Mutation_p.G233R|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.G233R	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	233						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACAATCAAGGATTGGACCA	0.358																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(697-699)Gga>Aga		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							70	63	65					10																	23250972		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23250972G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.697G>A	10.37:g.23250972G>A	ENSP00000298032:p.Gly233Arg					ARMC3_uc010qcv.2_Missense_Mutation_p.G233R|ARMC3_uc010qcw.2_Intron	p.G233R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			6	780	+			233					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.697G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729699	0.89390	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.32988	2.33;2.33;1.43	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.053071	0.85682	D	0.000000	T	0.62258	0.2413	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.66329	-0.5951	10	0.87932	D	0	-23.3157	19.746	0.96252	0.0:0.0:1.0:0.0	.	233;233	Q5W041-4;Q5W041	.;ARMC3_HUMAN	R	233;233;169;233	ENSP00000298032:G233R;ENSP00000386943:G233R;ENSP00000387288:G233R	ENSP00000298032:G233R	G	+	1	0	ARMC3	23290978	1.000000	0.71417	0.984000	0.44739	0.953000	0.61014	7.414000	0.80117	2.673000	0.90976	0.650000	0.86243	GGA		0.358	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		A	23250972	G	A	23250972	3	1	4	1	0	0	0	0	1	0	0	0	952	1001	35	3	719	3	ARMC3	10	23250972	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	17459490	23250972	112283775	35	229											
ZNF248	57209	broad.mit.edu	37	chr10	38126948	38126948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctataattttccaggatcAcatctctgtatagaatcttc	11	16	5	9	0	3	1	1	0	2	1	6	2	4	2	1	1	1	2	1	1	5	7			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:38126948A>G	ENST00000395867.3	-	4	657	c.107T>C	c.(106-108)gTg>gCg	p.V36A	ZNF248_ENST00000374648.3_Missense_Mutation_p.V36A|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000357328.4_Missense_Mutation_p.V36A	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCAGGATCACATCTCTGTA	0.413																																						uc001izd.1																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(106-108)gTg>gCg		Homo sapiens zinc finger protein 248 (ZNF248), mRNA.							163	156	158					10																	38126948		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38126948A>G	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.107T>C	10.37:g.38126948A>G	ENSP00000379208:p.Val36Ala					ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	p.V36A	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			3	606	-			36			KRAB.		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.107T>C	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751437	0.49257	.	.	ENSG00000198105	ENST00000395867;ENST00000374648;ENST00000357328;ENST00000395873;ENST00000395874	T;T;T;T;T	0.03951	3.75;3.75;3.75;3.75;3.75	4.43	4.43	0.53597	Krueppel-associated box (4);	0.175886	0.27544	N	0.018900	T	0.32071	0.0817	H	0.97103	3.94	0.38525	D	0.948836	D;D	0.76494	0.999;0.992	D;P	0.85130	0.997;0.832	T	0.52548	-0.8561	10	0.87932	D	0	.	11.9297	0.52839	1.0:0.0:0.0:0.0	.	36;36	Q8NDW4;Q8NDV8	ZN248_HUMAN;.	A	36	ENSP00000379208:V36A;ENSP00000363778:V36A;ENSP00000349882:V36A;ENSP00000379214:V36A;ENSP00000379215:V36A	ENSP00000349882:V36A	V	-	2	0	ZNF248	38166954	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	4.328000	0.59253	1.976000	0.57569	0.460000	0.39030	GTG		0.413	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		G	38126948	A	G	38126948	3	3	4	1	0	0	0	0	1	0	0	0	17790	159	6	4	1644	4	ZNF248	10	38126948	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	14875976	38126948	97407799	36	230											
PTEN	5728	broad.mit.edu	37	chr10	89692907	89692907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaagctggaaagggacgaActggtgtaatgatatgtgca	14	9	14	4	1	0	1	0	1	0	0	0	4	0	3	0	3	3	4	0	3	6	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:89692907A>G	ENST00000371953.3	+	5	1748	c.391A>G	c.(391-393)Act>Gct	p.T131A		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	131	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.T131fs*3(3)|p.Y27fs*1(2)|p.K128_R130del(2)|p.T131A(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131P(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGGGACGAACTGGTGTAAT	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(5)|Deletion - In frame(3)|Substitution - Missense(2)	p.R130G(110)|p.R130*(72)|p.R130Q(68)|p.0?(37)|p.R130fs*4(15)|p.R130L(13)|p.R130P(7)|p.K128_R130del(7)|p.T131fs*3(6)|p.?(5)|p.R55fs*1(5)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.T131A(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.T131P(2)|p.T131I(1)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.R130?(1)|p.T131N(1)	prostate(16)|central_nervous_system(12)|endometrium(6)|skin(6)|ovary(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(391-393)Act>Gct		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							139	129	132					10																	89692907		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692907A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.391A>G	10.37:g.89692907A>G	ENSP00000361021:p.Thr131Ala	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T131A	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1423	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	131			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.391A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743653	0.89663	.	.	ENSG00000171862	ENST00000371953	D	0.99369	-5.78	5.09	5.09	0.68999	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.101247	0.64402	D	0.000003	D	0.99339	0.9768	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99072	1.0834	9	.	.	.	-3.3726	14.8682	0.70434	1.0:0.0:0.0:0.0	.	131	P60484	PTEN_HUMAN	A	131	ENSP00000361021:T131A	.	T	+	1	0	PTEN	89682887	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	ACT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89692907	A	G	89692907	3	3	4	1	0	0	0	0	1	0	0	0	12738	43	2	4	409	4	PTEN	10	89692907	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	51565959	89692907	45841840	37	231											
PHRF1	57661	broad.mit.edu	37	chr11	608380	608380	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccccacccagcccggAcgtgctgcaggctgccaccc	7	3	12	19	2	0	0	0	0	0	0	0	2	0	2	6	3	5	3	6	3	1	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:608380A>T	ENST00000264555.5	+	14	3052	c.2924A>T	c.(2923-2925)gAc>gTc	p.D975V	PHRF1_ENST00000533464.1_Missense_Mutation_p.D971V|PHRF1_ENST00000413872.2_Missense_Mutation_p.D973V|PHRF1_ENST00000416188.2_Missense_Mutation_p.D974V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	975					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGCCCGGACGTGCTGCAG	0.657																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2923-2925)gAc>gTc		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							19	25	23					11																	608380		2038	4173	6211	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608380A>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2924A>T	11.37:g.608380A>T	ENSP00000264555:p.Asp975Val					PHRF1_uc010qwc.2_Missense_Mutation_p.D974V|PHRF1_uc010qwd.2_Missense_Mutation_p.D973V|PHRF1_uc010qwe.2_Missense_Mutation_p.D971V|PHRF1_uc009ybz.1_Missense_Mutation_p.D765V|PHRF1_uc009yca.2_Non-coding_Transcript	p.D975V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	3055	+			975					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2924A>T		.	.	.	.	.	.	.	.	.	.	A	7.861	0.726127	0.15439	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.09	-1.44	0.08856	.	0.597737	0.13762	N	0.364548	T	0.60779	0.2295	L	0.29908	0.895	0.09310	N	0.999999	P;P;P;P	0.38078	0.483;0.617;0.617;0.483	B;B;B;B	0.33960	0.084;0.173;0.173;0.084	T	0.53933	-0.8368	10	0.52906	T	0.07	-4.6263	1.4107	0.02291	0.4426:0.2729:0.1525:0.132	.	971;973;974;975	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	975;973;974;971	ENSP00000264555:D975V;ENSP00000388589:D973V;ENSP00000410626:D974V;ENSP00000431870:D971V	ENSP00000264555:D975V	D	+	2	0	PHRF1	598380	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.188000	0.17018	-0.371000	0.08004	0.459000	0.35465	GAC		0.657	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	608380	A	T	608380	3	4	4	1	0	0	0	0	1	0	0	0	11861	275	10	5	2971	5	PHRF1	11	608380	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08		608380	134398136	38	232											
OR51D1	390038	broad.mit.edu	37	chr11	4661587	4661587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacatactgtcacacaCtccttctgtctgcaccaaga	13	9	4	15	0	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	3	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:4661587C>T	ENST00000357605.2	+	1	643	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCACACACTCCTTCTGTC	0.483																																						uc010qyk.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(565-567)caC>caT		Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.							295	247	264					11																	4661587		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661587C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.567C>T	11.37:g.4661587C>T							p.H189H	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	643	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	189					B9EIK4	Silent	SNP	ENST00000357605.2	37	c.567C>T	CCDS31357.1																																																																																				0.483	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		T	4661587	C	T	4661587	2	4	4	1	0	0	0	0	0	0	0	1	11093	564	20	3		3	OR51D1	11	4661587	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	4053207	4661587	130344929	39	233											
PICALM	8301	broad.mit.edu	37	chr11	85733503	85733503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctaataaatgtagacAtgtcatatcctgtaaaaaaa	18	10	5	8	1	1	1	1	0	0	1	2	1	2	1	3	0	0	2	3	0	9	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:85733503A>T	ENST00000393346.3	-	4	507	c.359T>A	c.(358-360)aTg>aAg	p.M120K	PICALM_ENST00000532317.1_Missense_Mutation_p.M120K|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000526033.1_Missense_Mutation_p.M120K|PICALM_ENST00000528398.1_Missense_Mutation_p.M69K|PICALM_ENST00000356360.5_Missense_Mutation_p.M120K			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	120	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAATGTAGACATGTCATATCC	0.303			T	"MLLT10, MLL"	"TALL, AML, "																																	uc001pbm.3				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"MLLT10, MLL"		"TALL, AML, "		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(358-360)aTg>aAg		Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.							76	79	78					11																	85733503		2202	4294	6496	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85733503A>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.359T>A	11.37:g.85733503A>T	ENSP00000377015:p.Met120Lys					PICALM_uc001pbl.3_Missense_Mutation_p.M120K|PICALM_uc001pbn.3_Missense_Mutation_p.M120K|PICALM_uc010rtl.2_Missense_Mutation_p.M69K	p.M120K	NM_007166	NP_009097	Q13492	PICAL_HUMAN			3	676	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	120			ENTH.		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.359T>A	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095821	0.76870	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.34	5.34	0.76211	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.71920	2.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.997;1.0	T	0.55630	-0.8111	9	.	.	.	-17.7477	15.3632	0.74499	1.0:0.0:0.0:0.0	.	69;120;120;120	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	K	120;120;120;120;69;120;86;69;86	ENSP00000436958:M120K;ENSP00000433846:M120K;ENSP00000377015:M120K;ENSP00000434884:M69K;ENSP00000348718:M120K;ENSP00000433303:M86K;ENSP00000436508:M69K;ENSP00000431545:M86K	.	M	-	2	0	PICALM	85411151	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.252000	0.95491	2.026000	0.59711	0.378000	0.23410	ATG		0.303	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		T	85733503	A	T	85733503	3	4	4	1	0	0	0	0	1	0	0	0	11880	217	8	5	1695	5	PICALM	11	85733503	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	81071916	85733503	49273013	40	234											
ANO2	57101	broad.mit.edu	37	chr12	5842030	5842030	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatcacactgaaaaccaaAcctgggcacgttcctgggga	12	8	10	11	1	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	4	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:5842030A>G	ENST00000356134.5	-	15	1509		c.e15+1		ANO2_ENST00000546188.1_Intron|ANO2_ENST00000538154.1_Intron|ANO2_ENST00000327087.8_Splice_Site	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGAAAACCAAACCTGGGCACG	0.483																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.e14+1		Homo sapiens anoctamin 2 (ANO2), mRNA.							161	157	158					12																	5842030		2049	4197	6246	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5842030A>G	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1437+1T>C	12.37:g.5842030A>G							p.Q478_splice	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			14	1506	-			483					C4N787|Q9H847	Splice_Site	SNP	ENST00000356134.5	37	c.1434_splice		.	.	.	.	.	.	.	.	.	.	A	16.87	3.243174	0.58995	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000541277	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2554	0.54621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANO2	5712291	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.389000	0.59639	2.003000	0.58678	0.460000	0.39030	.		0.483	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Intron	G	5842030	A	G	5842030	5	3	4	1	0	0	0	0	0	0	1	0	697	57	2	4	1612	4	ANO2	12	5842030	Splice_Site	SNP	A	TCGA-02-0055-01A-01D-1490-08		5842030	128009865	41	235											
LEPREL2	2784	broad.mit.edu	37	chr12	6946911	6946911	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaggagagcaagagcagcGcatggacctgagtcacccag	12	4	13	12	1	1	3	1	1	0	2	1	5	1	4	3	2	3	3	3	2	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:6946911G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CAAGAGCAGCGCATGGACCTG	0.652																																						uc001qra.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1723-1725)cGc>cAc		Homo sapiens leprecan-like 2 (LEPREL2), mRNA.							32	39	36					12																	6946911		2124	4241	6365	SO:0001631	upstream_gene_variant	10536					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6946911G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946911G>A	Exception_encountered					GPR162_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	p.R575H	NM_014262	NP_055077	Q16538	GP162_HUMAN			12	1758	+			0					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1724G>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130378	0.94473	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.68479	-0.33;-0.33	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.051196	0.85682	D	0.000000	D	0.82852	0.5127	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85773	0.1356	9	0.87932	D	0	-7.6956	17.8129	0.88622	0.0:0.0:1.0:0.0	.	576	Q8IVL6	P3H3_HUMAN	H	575;391	ENSP00000379951:R575H;ENSP00000290510:R391H	ENSP00000290510:R391H	R	+	2	0	LEPREL2	6817172	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.221000	0.95188	2.434000	0.82447	0.561000	0.74099	CGC		0.652	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		A	6946911	G	A	6946911	1	1	4	0	1	0	0	0	0	0	0	0	8731	1087	38	1		1	LEPREL2	12	6946911	5'Flank	SNP	G	TCGA-02-0055-01A-01D-1490-08	1104881	6946911	126904984	42	236											
UBC	7316	broad.mit.edu	37	chr12	125397201	125397201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctctgagacggagcaccaGgtgcaaggtggactctttct	9	9	12	11	1	3	1	0	1	3	1	3	4	3	3	2	4	2	2	2	4	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:125397201G>T	ENST00000536769.1	-	1	2693	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.L297M|UBC_ENST00000339647.5_Missense_Mutation_p.L373M			P0CG48	UBC_HUMAN	ubiquitin C	373	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGGAGCACCAGGTGCAAGGTG	0.532																																						uc001ugs.4																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1117-1119)Ctg>Atg		Homo sapiens ubiquitin C (UBC), mRNA.							230	211	217					12																	125397201		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397201G>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1117C>A	12.37:g.125397201G>T	ENSP00000441543:p.Leu373Met					UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.L373M|UBC_uc001ugu.1_Missense_Mutation_p.L373M|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L373M	p.L373M	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1575	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		373			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1117C>A	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407639	0.42715	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.47869	0.83;0.83;0.83	3.16	2.22	0.28083	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.36374	U	0.002623	T	0.61248	0.2332	M	0.67953	2.075	0.58432	D	0.999994	D;D;P	0.57571	0.98;0.975;0.943	D;D;D	0.76575	0.988;0.979;0.941	T	0.63686	-0.6581	10	0.87932	D	0	.	8.306	0.32042	0.1291:0.0:0.8709:0.0	.	462;373;373	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	M	373;373;297;373;297	ENSP00000441543:L373M;ENSP00000344818:L373M;ENSP00000438394:L297M	ENSP00000344818:L373M	L	-	1	2	UBC	123963154	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.063000	0.41423	1.611000	0.50210	0.550000	0.68814	CTG		0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		T	125397201	G	T	125397201	3	4	4	1	0	0	0	0	1	0	0	0	16839	991	35	5	944	5	UBC	12	125397201	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	118450290	125397201	8454694	43	237											
OCA2	4948	broad.mit.edu	37	chr15	28202861	28202861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagtcaggcgccagaCgtgaatctcgtgcttcagtt	8	10	12	11	3	3	3	2	2	1	1	4	3	3	3	1	1	2	3	1	1	1	2	rs552418165		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:28202861C>G	ENST00000354638.3	-	16	1812	c.1657G>C	c.(1657-1659)Gtc>Ctc	p.V553L	OCA2_ENST00000382996.2_Missense_Mutation_p.V553L|OCA2_ENST00000353809.5_Missense_Mutation_p.V529L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	553					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V553I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous Albinism																													uc001zbh.4																			1	Substitution - Missense(1)	p.V553I(2)|p.H552H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1657-1659)Gtc>Ctc		Homo sapiens oculocutaneous albinism II (OCA2), mRNA.							27	28	28					15																	28202861		2203	4299	6502	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202861C>G		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1657G>C	15.37:g.28202861C>G	ENSP00000346659:p.Val553Leu					OCA2_uc010ayv.3_Missense_Mutation_p.V529L	p.V553L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1767	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	553					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1657G>C	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425067	0.83667	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.54;-2.74	5.8	5.8	0.92144	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.93015	0.7777	L	0.49126	1.545	0.58432	D	0.999996	D;D	0.56035	0.974;0.97	P;P	0.60117	0.704;0.869	D	0.92387	0.5918	10	0.46703	T	0.11	-31.6376	17.5483	0.87869	0.0:1.0:0.0:0.0	.	529;553	Q04671-2;Q04671	.;P_HUMAN	L	553;529;553	ENSP00000346659:V553L;ENSP00000261276:V529L;ENSP00000372457:V553L	ENSP00000261276:V529L	V	-	1	0	OCA2	25876456	1.000000	0.71417	0.937000	0.37676	0.516000	0.34256	6.883000	0.75595	2.746000	0.94184	0.591000	0.81541	GTC		0.617	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		G	28202861	C	G	28202861	3	3	4	1	0	0	0	0	1	0	0	0	10815	536	19	5	895	5	OCA2	15	28202861	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		28202861	74328531	44	238											
TRPM1	4308	broad.mit.edu	37	chr15	31342763	31342763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggctttgctgtccgtcGggggtgccaggcttcccagg	2	10	16	13	3	0	0	0	0	0	0	3	0	2	0	4	5	2	3	4	5	0	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:31342763G>A	ENST00000256552.6	-	12	1433	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L	TRPM1_ENST00000542188.1_Missense_Mutation_p.P446L|TRPM1_ENST00000397795.2_Missense_Mutation_p.P407L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTGTCCGTCGGGGGTGCCAG	0.557																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1336-1338)cCg>cTg		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							75	74	74					15																	31342763		1954	4143	6097	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31342763G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1286C>T	15.37:g.31342763G>A	ENSP00000256552:p.Pro429Leu					TRPM1_uc010azy.3_Missense_Mutation_p.P314L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P429L|TRPM1_uc001zfm.3_Missense_Mutation_p.P407L	p.P446L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	10	1651	-		all_lung(180;1.92e-11)	407						Missense_Mutation	SNP	ENST00000256552.6	37	c.1337C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866323	0.17250	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.50277	0.77;0.75;0.77	4.97	4.97	0.65823	.	0.261461	0.39146	N	0.001441	T	0.25269	0.0614	N	0.08118	0	0.50632	D	0.999888	P;P	0.38048	0.533;0.616	B;B	0.24394	0.053;0.038	T	0.20438	-1.0275	10	0.49607	T	0.09	-17.4249	15.7139	0.77652	0.0:0.0:1.0:0.0	.	401;407	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	407;446;429;407	ENSP00000380897:P407L;ENSP00000437849:P446L;ENSP00000256552:P429L	ENSP00000256552:P429L	P	-	2	0	TRPM1	29130055	1.000000	0.71417	0.349000	0.25694	0.021000	0.10359	4.118000	0.57884	2.298000	0.77334	0.313000	0.20887	CCG		0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31342763	G	A	31342763	3	1	4	1	0	0	0	0	1	0	0	0	16582	1116	39	2	3659	2	TRPM1	15	31342763	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	3139902	31342763	71188629	45	239											
EXD1	161829	broad.mit.edu	37	chr15	41483752	41483752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttggaagatagccacccGtttccatggaaaactgaagt	13	10	10	8	1	0	2	0	1	0	1	1	4	1	4	3	2	2	2	3	2	5	3	rs200349978		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:41483752G>A	ENST00000314992.5	-	8	768	c.578C>T	c.(577-579)aCg>aTg	p.T193M	EXD1_ENST00000458580.2_Missense_Mutation_p.T251M|RN7SL497P_ENST00000476341.2_RNA	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	193							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATAGCCACCCGTTTCCATGGA	0.383													G|||	1	0.000199681	0	0	5008	,	,		18025	0.001		0	False		,,,				2504	0					uc010ucv.2																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(751-753)aCg>aTg		Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.							102	102	102					15																	41483752		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41483752G>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.578C>T	15.37:g.41483752G>A	ENSP00000321029:p.Thr193Met					EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.T193M	p.T251M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			9	1024	-			193					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.752C>T	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281791	0.80692	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.50813	0.73;0.73	5.38	5.38	0.77491	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	L	0.49126	1.545	0.41503	D	0.988296	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65331	-0.6194	10	0.56958	D	0.05	-5.7963	16.9067	0.86130	0.0:0.0:1.0:0.0	.	251;193	B7Z839;Q8NHP7	.;EXD1_HUMAN	M	193;251	ENSP00000321029:T193M;ENSP00000415056:T251M	ENSP00000321029:T193M	T	-	2	0	EXD1	39271044	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.891000	0.75639	2.522000	0.85027	0.313000	0.20887	ACG		0.383	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		A	41483752	G	A	41483752	3	1	4	1	0	0	0	0	1	0	0	0	5297	1145	40	1	978	1	EXD1	15	41483752	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	10140989	41483752	61047640	46	240											
SPG11	80208	broad.mit.edu	37	chr15	44876437	44876437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctctgtttcctcctgaTttcttccaagagtgtgctgg	4	16	11	10	0	2	2	0	1	2	1	5	2	5	2	3	2	1	3	3	2	1	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:44876437T>C	ENST00000261866.7	-	30	5457	c.5441A>G	c.(5440-5442)aAt>aGt	p.N1814S	SPG11_ENST00000427534.2_Missense_Mutation_p.N1814S|SPG11_ENST00000535302.2_Missense_Mutation_p.N1814S|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000558319.1_Missense_Mutation_p.N1814S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1814					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCCTCCTGATTTCTTCCAAG	0.512																																						uc001ztx.3																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(5440-5442)aAt>aGt		Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.							100	97	98					15																	44876437		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876437T>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5441A>G	15.37:g.44876437T>C	ENSP00000261866:p.Asn1814Ser					SPG11_uc010bdw.3_Missense_Mutation_p.N103S|SPG11_uc010ueh.2_Missense_Mutation_p.N1814S|SPG11_uc010uei.2_Missense_Mutation_p.N1814S|SPG11_uc001zty.1_Missense_Mutation_p.N543S	p.N1814S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	29	5472	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1814					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5441A>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264416	0.23136	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76316	-1.01;-0.76;-0.75	5.79	-4.76	0.03229	.	0.997533	0.08119	N	0.994970	T	0.47691	0.1459	N	0.03115	-0.41	0.09310	N	0.999999	B;B;B;B	0.12630	0.003;0.006;0.001;0.001	B;B;B;B	0.11329	0.003;0.006;0.003;0.003	T	0.42749	-0.9433	10	0.09338	T	0.73	.	7.8619	0.29514	0.0:0.4218:0.2374:0.3408	.	1814;1814;1814;1814	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	S	1814	ENSP00000261866:N1814S;ENSP00000445278:N1814S;ENSP00000396110:N1814S	ENSP00000261866:N1814S	N	-	2	0	SPG11	42663729	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-0.362000	0.07602	-0.763000	0.04658	0.455000	0.32223	AAT		0.512	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			C	44876437	T	C	44876437	3	2	4	1	0	0	0	0	1	0	0	0	15040	1493	52	4	1934	4	SPG11	15	44876437	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	3392685	44876437	57654955	47	241											
SEMA6D	80031	broad.mit.edu	37	chr15	48056239	48056239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcatccccactgtggtcGgggtgtttaccacgcagctc	6	10	12	13	2	0	0	0	0	0	0	3	0	1	0	3	4	2	4	3	4	1	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:48056239G>A	ENST00000316364.5	+	10	1379	c.940G>A	c.(940-942)Ggg>Agg	p.G314R	SEMA6D_ENST00000358066.4_Missense_Mutation_p.G314R|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G314R|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G314R|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G314R|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G314R|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G314R|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G314R|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G314R|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G314R|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G314R|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G314R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	314	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACTGTGGTCGGGGTGTTTAC	0.483																																						uc010bek.3																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(940-942)Ggg>Agg		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.							91	83	86					15																	48056239		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056239G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.940G>A	15.37:g.48056239G>A	ENSP00000324857:p.Gly314Arg					SEMA6D_uc001zvw.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.3_Missense_Mutation_p.G314R	p.G314R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	9	1300	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	314			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.940G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403683	0.96051	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.992;1.0	T	0.66540	-0.5898	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	314;314;314;314;314	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	R	314	ENSP00000442040:G314R;ENSP00000446152:G314R;ENSP00000324857:G314R;ENSP00000374084:G314R;ENSP00000374083:G314R;ENSP00000346786:G314R;ENSP00000350770:G314R;ENSP00000374079:G314R;ENSP00000348276:G314R;ENSP00000374076:G314R	ENSP00000324857:G314R	G	+	1	0	SEMA6D	45843531	1.000000	0.71417	0.951000	0.38953	0.965000	0.64279	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GGG		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48056239	G	A	48056239	3	1	4	1	0	0	0	0	1	0	0	0	14042	1116	39	2	974	2	SEMA6D	15	48056239	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	3179802	48056239	54475153	48	242											
ALDH1A2	8854	broad.mit.edu	37	chr15	58253017	58253017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaaaggggctctgggCatttaaggcattgtaacaat	11	10	10	10	0	1	0	0	0	1	0	2	0	2	0	2	4	1	4	2	4	4	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:58253017C>T	ENST00000249750.4	-	12	2202	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.A458T|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.A450T|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.A441T|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.A383T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	479					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GGGCTCTGGGCATTTAAGGCA	0.408																																						uc002aex.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1435-1437)Gcc>Acc		Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						90	85	86					15																	58253017		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58253017C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1435G>A	15.37:g.58253017C>T	ENSP00000249750:p.Ala479Thr					ALDH1A2_uc010ugv.2_Missense_Mutation_p.A458T|ALDH1A2_uc002aey.3_Missense_Mutation_p.A441T|ALDH1A2_uc010ugw.2_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.3_Missense_Mutation_p.A383T	p.A479T	NM_003888	NP_733798	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	11	1708	-			479					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1435G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058429	0.55325	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.17054	2.3;2.3;2.3	5.43	4.48	0.54585	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.161216	0.56097	D	0.000036	T	0.20292	0.0488	L	0.55743	1.74	0.46260	D	0.998953	B;B;B;B	0.19583	0.037;0.011;0.001;0.002	B;B;B;B	0.24269	0.052;0.031;0.007;0.019	T	0.03112	-1.1071	10	0.49607	T	0.09	.	15.3689	0.74548	0.0:0.861:0.139:0.0	.	450;458;441;479	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	T	479;383;450;441;458	ENSP00000249750:A479T;ENSP00000309623:A441T;ENSP00000438296:A458T	ENSP00000249750:A479T	A	-	1	0	ALDH1A2	56040309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.591000	0.61019	2.549000	0.85964	0.655000	0.94253	GCC		0.408	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			T	58253017	C	T	58253017	3	4	4	1	0	0	0	0	1	0	0	0	491	710	25	3	129	3	ALDH1A2	15	58253017	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	10196778	58253017	44278375	49	243											
CLDN6	9074	broad.mit.edu	37	chr16	3065604	3065604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccggatgatggcatgcGccgtccagcacacggggatt	8	7	14	12	4	0	1	0	1	0	0	2	3	2	3	3	4	2	2	3	4	0	1	rs369700162		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:3065604G>A	ENST00000396925.1	-	3	847	c.419C>T	c.(418-420)gCg>gTg	p.A140V	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.A140V			P56747	CLD6_HUMAN	claudin 6	140					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GATGGCATGCGCCGTCCAGCA	0.622																																						uc021tbb.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(418-420)gCg>gTg		Homo sapiens claudin 6 (CLDN6), mRNA.		G	VAL/ALA	0,4394		0,0,2197	25	27	26		419	4.8	0.9	16		26	1,8589		0,1,4294	no	missense	CLDN6	NM_021195.4	64	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/221	3065604	1,12983	2197	4295	6492	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065604G>A	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.419C>T	16.37:g.3065604G>A	ENSP00000380131:p.Ala140Val					CLDN6_uc002csu.4_Missense_Mutation_p.A140V	p.A140V	NM_021195	NP_067018	P56747	CLD6_HUMAN			0	419	-			140					B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.419C>T	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656689	0.67586	0.0	1.16E-4	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.89343	-2.5;-2.5	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.98901	4.365	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	D	0.98096	1.0412	10	0.87932	D	0	.	15.6364	0.76958	0.0:0.0:1.0:0.0	.	140	P56747	CLD6_HUMAN	V	140	ENSP00000380131:A140V;ENSP00000328674:A140V	ENSP00000328674:A140V	A	-	2	0	CLDN6	3005605	1.000000	0.71417	0.889000	0.34880	0.048000	0.14542	9.657000	0.98554	2.638000	0.89438	0.655000	0.94253	GCG		0.622	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		A	3065604	G	A	3065604	3	1	4	1	0	0	0	0	1	0	0	0	3489	1087	38	1	247	1	CLDN6	16	3065604	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		3065604	87289149	50	244											
SCNN1B	6338	broad.mit.edu	37	chr16	23360038	23360038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacacccacggccccaagCgcatcatctgtgaggggccc	9	4	10	18	2	2	1	1	1	1	0	2	1	2	1	5	3	2	1	5	3	2	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:23360038C>T	ENST00000343070.2	+	2	294	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.R40C|SCNN1B_ENST00000307331.5_Missense_Mutation_p.R85C|SCNN1B_ENST00000568085.1_Missense_Mutation_p.R40C	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	40					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGGCCCCAAGCGCATCATCTG	0.622																																						uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(118-120)Cgc>Tgc		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						71	62	65					16																	23360038		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23360038C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.118C>T	16.37:g.23360038C>T	ENSP00000345751:p.Arg40Cys						p.R40C	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	1	294	+			40					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.118C>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499684	0.85176	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.65178	-0.14;-0.14	4.91	4.91	0.64330	.	0.077952	0.53938	D	0.000041	D	0.82527	0.5056	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86546	0.1831	10	0.87932	D	0	-7.2594	17.0902	0.86620	0.0:1.0:0.0:0.0	.	40	P51168	SCNNB_HUMAN	C	40;85	ENSP00000345751:R40C;ENSP00000302874:R85C	ENSP00000302874:R85C	R	+	1	0	SCNN1B	23267539	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.745000	0.68672	2.258000	0.74832	0.561000	0.74099	CGC		0.622	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			T	23360038	C	T	23360038	3	4	4	1	0	0	0	0	1	0	0	0	13928	768	27	1	120	1	SCNN1B	16	23360038	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	20294434	23360038	66994715	51	245											
ITGAD	3681	broad.mit.edu	37	chr16	31422517	31422517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggggccaggtgtccGtgtgtcccttgcctaggggg	3	8	18	12	2	0	0	0	0	0	0	2	1	2	0	5	5	1	0	5	5	1	2	rs147338780	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:31422517G>A	ENST00000389202.2	+	13	1526	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	493					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGGTGTCCGTGTGTCCCTT	0.632													g|||	2	0.000399361	8e-04	0	5008	,	,		15581	0.001		0	False		,,,				2504	0					uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1477-1479)Gtg>Atg		Homo sapiens integrin, alpha D (ITGAD), mRNA.		G	MET/VAL	0,4394		0,0,2197	81	79	79		1477	1.2	0.6	16	dbSNP_134	79	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ITGAD	NM_005353.2	21	0,4,6493	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	493/1162	31422517	4,12990	2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422517G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1477G>A	16.37:g.31422517G>A	ENSP00000373854:p.Val493Met					ITGAD_uc002ebv.1_Missense_Mutation_p.V493M	p.V493M	NM_005353	NP_005344	Q13349	ITAD_HUMAN			12	1526	+			493					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1477G>A	CCDS32438.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	11.39	1.623588	0.28889	0.0	4.65E-4	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.75589	-0.95	4.69	1.18	0.20946	.	.	.	.	.	T	0.76758	0.4032	M	0.84082	2.675	0.26190	N	0.979604	D;D	0.69078	0.997;0.997	P;P	0.49192	0.602;0.602	T	0.67452	-0.5667	9	0.62326	D	0.03	.	5.3745	0.16158	0.214:0.1742:0.6117:0.0	.	509;493	Q59H14;Q13349	.;ITAD_HUMAN	M	509;493	ENSP00000373854:V493M	ENSP00000373854:V493M	V	+	1	0	ITGAD	31330018	0.886000	0.30341	0.620000	0.29132	0.141000	0.21300	1.101000	0.31037	0.953000	0.37825	0.401000	0.26515	GTG		0.632	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31422517	G	A	31422517	3	1	4	1	0	0	0	0	1	0	0	0	7884	1145	40	1	1527	1	ITGAD	16	31422517	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	8062479	31422517	58932236	52	246											
WDR59	79726	broad.mit.edu	37	chr16	74976699	74976699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagttagcattttttttAttccatttgacctgggaggc	8	16	10	7	0	0	1	0	1	0	0	1	2	1	2	2	3	1	3	2	3	2	7			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:74976699A>T	ENST00000262144.6	-	7	601	c.471T>A	c.(469-471)aaT>aaA	p.N157K		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	157										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTTTTTTTATTCCATTTGA	0.502																																						uc002fdh.1																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(469-471)aaT>aaA		Homo sapiens WD repeat domain 59 (WDR59), mRNA.							79	72	74					16																	74976699		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74976699A>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.471T>A	16.37:g.74976699A>T	ENSP00000262144:p.Asn157Lys					WDR59_uc002fdi.3_Missense_Mutation_p.N157K|WDR59_uc021tli.1_Missense_Mutation_p.N136K	p.N157K	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			6	573	-			157					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.471T>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451750	0.84209	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.72051	-0.62	5.96	2.49	0.30216	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042802	0.85682	D	0.000000	T	0.70193	0.3196	M	0.87758	2.905	0.80722	D	1	B;P	0.37525	0.286;0.598	B;B	0.34824	0.169;0.19	T	0.71094	-0.4692	10	0.87932	D	0	-23.1081	8.6937	0.34282	0.6021:0.0:0.3979:0.0	.	157;157	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	K	157;136	ENSP00000262144:N157K	ENSP00000262144:N157K	N	-	3	2	WDR59	73534200	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.230000	0.51286	0.515000	0.28320	0.533000	0.62120	AAT		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		T	74976699	A	T	74976699	3	4	4	1	0	0	0	0	1	0	0	0	17305	446	16	5	2533	5	WDR59	16	74976699	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	43554182	74976699	15378054	53	247											
KCNG4	93107	broad.mit.edu	37	chr16	84270708	84270708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaccagcttcccggcCgccaggaagctcacgatcac	11	4	10	16	3	2	1	2	0	0	1	3	3	3	2	4	2	3	3	4	2	2	1	rs369629967		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:84270708C>T	ENST00000308251.4	-	2	452	c.384G>A	c.(382-384)gcG>gcA	p.A128A	KCNG4_ENST00000568181.1_Silent_p.A128A	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	128					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCTTCCCGGCCGCCAGGAAGC	0.637																																						uc010voc.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(382-384)gcG>gcA		Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.		C		0,4400		0,0,2200	47	50	49		384	-2.1	1	16		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNG4	NM_172347.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		128/520	84270708	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270708C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.384G>A	16.37:g.84270708C>T						KCNG4_uc002fhu.1_Silent_p.A128A	p.A128A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			1	505	-			128					Q96H24	Silent	SNP	ENST00000308251.4	37	c.384G>A	CCDS10945.1																																																																																				0.637	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		T	84270708	C	T	84270708	2	4	4	1	0	0	0	0	0	0	0	1	8030	639	23	2		2	KCNG4	16	84270708	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	9294009	84270708	6084045	54	248											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACCACCACACTATGTCGA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CX952222	TP53	X		c.(646-648)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							123	111	115					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578203C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	p.V216M	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	840	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578203	C	T	7578203	3	4	4	1	0	0	0	0	1	0	0	0	16378	478	17	3	648	3	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		7578203	73617007	55	249											
MGAT5B	146664	broad.mit.edu	37	chr17	74936837	74936837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccagcatccctacgcGgagaacttcatcggcaagcc	9	8	8	16	3	2	1	1	0	1	1	5	2	3	1	3	2	4	2	3	2	3	3	rs187745988		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:74936837G>A	ENST00000569840.2	+	15	2329	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	MGAT5B_ENST00000301618.4_Silent_p.A583A|MGAT5B_ENST00000428789.2_Silent_p.A594A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	585					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCCTACGCGGAGAACTTCA	0.552													g|||	1	0.000199681	8e-04	0	5008	,	,		18933	0		0	False		,,,				2504	0					uc002jti.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1780-1782)gcG>gcA		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.							87	78	81					17																	74936837		2203	4300	6503	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74936837G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1755G>A	17.37:g.74936837G>A						MGAT5B_uc002jth.3_Silent_p.A583A	p.A594A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			12	1885	+			585					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.1782G>A	CCDS59299.1																																																																																				0.552	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74936837	G	A	74936837	2	1	4	1	0	0	0	0	0	0	0	1	9549	1103	39	2		2	MGAT5B	17	74936837	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	67358634	74936837	6258373	56	250											
PAPL	390928	broad.mit.edu	37	chr19	39597641	39597641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaggccctggagtgccGtgcgtgtgaaggagtacggg	6	7	18	10	4	0	1	0	1	0	0	1	4	1	3	3	4	3	1	3	4	2	1	rs546523874		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:39597641G>A	ENST00000331256.5	+	12	1442	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		390						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTGGAGTGCCGTGCGTGTGAA	0.652																																						uc002oki.3																			0											c.(1168-1170)Gtg>Atg		Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.							81	61	68					19																	39597641		2203	4300	6503	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39597641G>A																												ENST00000331256.5:c.1168G>A	19.37:g.39597641G>A	ENSP00000327557:p.Val390Met					PAPL_uc010egl.3_Intron	p.V390M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			11	1442	+			390					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.1168G>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.576575	0.28092	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.65	-9.3	0.00649	.	0.651370	0.15402	N	0.264266	T	0.24044	0.0582	L	0.39898	1.24	0.09310	N	0.999997	B	0.33318	0.408	B	0.31390	0.129	T	0.08411	-1.0723	9	0.66056	D	0.02	-3.9476	8.3486	0.32288	0.1307:0.586:0.1159:0.1674	.	390	Q6ZNF0	PAPL_HUMAN	M	390	.	ENSP00000327557:V390M	V	+	1	0	AC011443.1	44289481	0.000000	0.05858	0.005000	0.12908	0.426000	0.31534	-1.979000	0.01493	-1.724000	0.01373	0.543000	0.68304	GTG		0.652	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			A	39597641	G	A	39597641	3	1	4	1	0	0	0	0	1	0	0	0	11427	1145	40	1	1210	1	PAPL	19	39597641	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		39597641	19531342	57	251											
PSG1	5669	broad.mit.edu	37	chr19	43376198	43376198	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcttaggagtctccaCtgtgcagaaaacagggtgaa	12	7	15	7	0	1	2	0	1	1	1	2	4	1	4	1	4	2	2	1	4	4	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:43376198C>A	ENST00000436291.2	-	3	547		c.e3-1		PSG1_ENST00000244296.2_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGAGTCTCCACTGTGCAGAAA	0.527																																						uc002ovd.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.e3-1		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							129	123	125					19																	43376198		2201	4299	6500	SO:0001630	splice_region_variant	5669				defense response|female pregnancy	extracellular region		g.chr19:43376198C>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.431-1G>T	19.37:g.43376198C>A						PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Splice_Site_p.L144_splice|PSG3_uc002oun.3_Splice_Site|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Splice_Site_p.L144_splice|PSG3_uc002ovb.3_Splice_Site_p.L144_splice	p.L144_splice	NM_006905	NP_008836	Q16557	PSG3_HUMAN			3	569	-		Prostate(69;0.00682)	144			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Splice_Site	SNP	ENST00000436291.2	37	c.431_splice	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	c	6.120	0.390434	0.11581	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	.	.	.	1.46	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2767	0.20985	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG1	48068038	0.690000	0.27699	0.152000	0.22495	0.059000	0.15707	1.738000	0.38207	0.782000	0.33613	0.184000	0.17185	.		0.527	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		Intron	A	43376198	C	A	43376198	5	1	4	1	0	0	0	0	0	0	1	0	12653	579	20	5	898	5	PSG1	19	43376198	Splice_Site	SNP	C	TCGA-02-0055-01A-01D-1490-08	3778557	43376198	15752785	58	252											
BTBD3	22903	broad.mit.edu	37	chr20	11900455	11900455	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaatccgtataccagatgtCgaacctgctgcttttctcgc	9	12	8	12	3	1	1	0	0	1	1	4	3	2	1	3	0	4	3	3	0	4	4	rs368759423		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:11900455C>G	ENST00000405977.1	+	4	1132	c.507C>G	c.(505-507)gtC>gtG	p.V169V	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Silent_p.V169V|BTBD3_ENST00000254977.3_Silent_p.V108V|BTBD3_ENST00000399006.2_Silent_p.V108V|BTBD3_ENST00000488503.1_3'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	169	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACCAGATGTCGAACCTGCTG	0.418																																						uc002wnz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(505-507)gtC>gtG		Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.							144	133	137					20																	11900455		2203	4300	6503	SO:0001819	synonymous_variant	22903							g.chr20:11900455C>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.507C>G	20.37:g.11900455C>G						BTBD3_uc002wny.3_Silent_p.V108V|BTBD3_uc002woa.3_Silent_p.V108V|BTBD3_uc010zrf.2_Silent_p.V18V|BTBD3_uc010zrg.2_Silent_p.V18V|BTBD3_uc010zrh.2_Silent_p.V18V	p.V169V	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN			2	866	+			169			BTB.		D3DW19|Q5JY73	Silent	SNP	ENST00000405977.1	37	c.507C>G	CCDS13113.1																																																																																				0.418	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			G	11900455	C	G	11900455	2	3	4	1	0	0	0	0	0	0	0	1	1544	871	31	5		5	BTBD3	20	11900455	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		11900455	51125065	59	253											
DEFB118	117285	broad.mit.edu	37	chr20	29960755	29960755	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatacatgcaaaaatcttCgagcttgctgcattccatcc	13	11	6	11	1	1	1	0	0	1	1	4	2	3	1	2	0	5	4	2	0	4	4	rs34328728		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:29960755C>T	ENST00000253381.2	+	2	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	52					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438																																						uc002wvr.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(154-156)Cga>Tga		Homo sapiens defensin, beta 118 (DEFB118), mRNA.							135	121	126					20																	29960755		2203	4300	6503	SO:0001587	stop_gained	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960755C>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.154C>T	20.37:g.29960755C>T	ENSP00000253381:p.Arg52*						p.R52*	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	187	+	all_hematologic(12;0.158)		52					Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	c.154C>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926972	0.34002	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.82	1.75	0.24633	.	0.991602	0.08169	N	0.987287	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-4.047	6.7047	0.23244	0.2015:0.6033:0.1952:0.0	.	.	.	.	X	52	.	ENSP00000253381:R52X	R	+	1	2	DEFB118	29424416	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.004000	0.12878	0.516000	0.28340	0.655000	0.94253	CGA		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		T	29960755	C	T	29960755	4	4	4	1	0	0	0	0	0	1	0	0	4406	876	31	2	160	2	DEFB118	20	29960755	Nonsense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	18060300	29960755	33064765	60	254											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1	rs199829982		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.		C		1,4405		0,1,2202	29	31	30		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	p.G610G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2262	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31022345	C	T	31022345	2	4	4	1	0	0	0	0	0	0	0	1	1066	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	1061590	31022345	32003175	61	255											
DLGAP4	22839	broad.mit.edu	37	chr20	35075140	35075140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagtatgaggcggcctGcgagtcagcctgcagtgaag	9	7	15	10	2	1	3	1	3	0	0	1	4	1	3	3	2	3	2	3	2	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:35075140G>A	ENST00000373907.2	+	6	1647	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	DLGAP4_ENST00000401952.2_Missense_Mutation_p.C483Y|DLGAP4_ENST00000339266.5_Missense_Mutation_p.C483Y|DLGAP4_ENST00000373913.3_Missense_Mutation_p.C483Y			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	483					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGGCGGCCTGCGAGTCAGCC	0.647																																						uc002xff.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1447-1449)tGc>tAc		Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.							44	33	37					20																	35075140		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35075140G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1448G>A	20.37:g.35075140G>A	ENSP00000363014:p.Cys483Tyr					DLGAP4_uc010zvp.2_Missense_Mutation_p.C483Y	p.C483Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			6	1883	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	483					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.1448G>A		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756257	0.69648	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.43	5.43	0.79202	.	0.194392	0.56097	D	0.000025	D	0.95092	0.8410	M	0.78049	2.395	0.48830	D	0.999713	D	0.71674	0.998	D	0.65443	0.935	D	0.95332	0.8430	10	0.87932	D	0	.	18.5789	0.91164	0.0:0.0:1.0:0.0	.	483	Q9Y2H0-1	.	Y	483	ENSP00000363023:C483Y;ENSP00000384954:C483Y;ENSP00000363014:C483Y;ENSP00000341633:C483Y	ENSP00000341633:C483Y	C	+	2	0	DLGAP4	34508554	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.569000	0.73992	2.702000	0.92279	0.511000	0.50034	TGC		0.647	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35075140	G	A	35075140	3	1	4	1	0	0	0	0	1	0	0	0	4562	1319	46	3	1466	3	DLGAP4	20	35075140	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	4052795	35075140	27950380	62	256											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864264	31864264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcctccatagtagctgccGtagtagctcatggtgtcagg	8	10	13	10	1	2	0	2	0	0	0	3	0	3	0	3	3	3	5	3	3	4	4	rs376412934		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr21:31864264G>A	ENST00000334063.4	-	1	11	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	4						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGTAGCTGCCGTAGTAGCTCA	0.547																																						uc002yog.1																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(10-12)taC>taT		Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.							140	128	132					21																	31864264		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864264G>A	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"Keratin associated proteins"	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.12C>T	21.37:g.31864264G>A							p.Y4Y	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			0	12	-			4						Silent	SNP	ENST00000334063.4	37	c.12C>T	CCDS13596.1																																																																																				0.547	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			A	31864264	G	A	31864264	2	1	4	1	0	0	0	0	0	0	0	1	8530	1140	40	1		1	KRTAP19-3	21	31864264	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08		31864264	16265631	63	257											
TPST2	8459	broad.mit.edu	37	chr22	26937269	26937269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacttggaccaggcctggcGcatggccagcacgcgcggga	8	4	16	13	4	0	1	0	0	0	1	0	3	0	3	3	5	1	2	3	5	0	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr22:26937269G>A	ENST00000338754.4	-	3	598	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	TPST2_ENST00000403880.1_Missense_Mutation_p.R110C|TPST2_ENST00000398110.2_Missense_Mutation_p.R110C	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	110					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CAGGCCTGGCGCATGGCCAGC	0.697																																						uc003acw.3																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(328-330)Cgc>Tgc		Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.							27	25	26					22																	26937269		2202	4298	6500	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937269G>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.328C>T	22.37:g.26937269G>A	ENSP00000339813:p.Arg110Cys					TPST2_uc003acx.3_Missense_Mutation_p.R110C|TPST2_uc011akf.1_Missense_Mutation_p.R110C	p.R110C	NM_001008566	NP_003586	O60704	TPST2_HUMAN			2	669	-			110					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.328C>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682371	0.47991	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495;ENST00000454778	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.09	4.08	0.47627	Sulfotransferase domain (1);	0.078282	0.53938	D	0.000044	T	0.70133	0.3189	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74873	-0.3516	10	0.66056	D	0.02	-29.5816	12.6001	0.56492	0.0803:0.0:0.9197:0.0	.	110	O60704	TPST2_HUMAN	C	110;110;110;43;110;110	ENSP00000339813:R110C;ENSP00000381180:R110C;ENSP00000385192:R110C;ENSP00000403875:R110C;ENSP00000400357:R110C	ENSP00000339813:R110C	R	-	1	0	TPST2	25267269	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.750000	0.55157	1.162000	0.42619	-0.192000	0.12808	CGC		0.697	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		A	26937269	G	A	26937269	3	1	4	1	0	0	0	0	1	0	0	0	16425	1087	38	1	821	1	TPST2	22	26937269	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		26937269	24367297	64	258											
P2RY8	286530	broad.mit.edu	37	chrX	1584470	1584470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacggacgtggtcctggCggagaagaggctctcgcggc	6	5	18	12	6	1	2	0	0	1	2	3	4	2	3	1	6	0	2	1	6	1	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:1584470C>T	ENST00000381297.4	-	2	1192	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGTCCTGGCGGAGAAGAGG	0.682			T	CRLF2	"B-ALL, Downs associated ALL"																																	uc022brv.1				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(982-984)Gcc>Acc		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							47	55	52					X																	1584470		2203	4295	6498	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584470C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.982G>A	X.37:g.1584470C>T	ENSP00000370697:p.Ala328Thr					CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A328T	p.A328T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	982	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	328						Missense_Mutation	SNP	ENST00000381297.4	37	c.982G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.393555	0.42410	.	.	ENSG00000182162	ENST00000381297	T	0.61392	0.11	2.73	2.73	0.32206	.	0.473294	0.18039	U	0.153665	T	0.28962	0.0719	N	0.08118	0	0.09310	N	1	B	0.34181	0.44	B	0.14023	0.01	T	0.08493	-1.0719	10	0.13470	T	0.59	.	12.3675	0.55236	0.0:1.0:0.0:0.0	.	328	Q86VZ1	P2RY8_HUMAN	T	328	ENSP00000370697:A328T	ENSP00000370697:A328T	A	-	1	0	P2RY8	1544470	0.219000	0.23619	0.057000	0.19452	0.469000	0.32828	1.484000	0.35508	1.007000	0.39238	0.279000	0.19357	GCC		0.682	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		T	1584470	C	T	1584470	3	4	4	1	0	0	0	0	1	0	0	0	11355	768	27	1	101	1	P2RY8	23	1584470	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		1584470	153686090	65	259											
GEMIN8	54960	broad.mit.edu	37	chrX	14027285	14027285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccagctgctgctgcCgccctgagaacaaacacgaa	11	6	9	15	2	0	1	0	1	0	1	1	3	1	1	3	0	7	4	3	0	3	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:14027285C>T	ENST00000380523.4	-	5	794	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	GEMIN8_ENST00000398355.3_Missense_Mutation_p.R159Q	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	159					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTGCTGCTGCCGCCCTGAGAA	0.582																																						uc004cwb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(475-477)cGg>cAg		Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.							52	45	47					X																	14027285		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027285C>T	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.476G>A	X.37:g.14027285C>T	ENSP00000369895:p.Arg159Gln					GEMIN8_uc004cwc.3_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.3_Missense_Mutation_p.R159Q	p.R159Q	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			4	819	-			159					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.476G>A	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.027505	0.75390	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.65	5.65	0.86999	.	0.171597	0.53938	D	0.000058	T	0.60919	0.2306	L	0.55213	1.73	0.36755	D	0.882968	D	0.89917	1.0	D	0.67382	0.951	T	0.69157	-0.5219	10	0.72032	D	0.01	.	11.2292	0.48901	0.0:0.9153:0.0:0.0847	.	159	Q9NWZ8	GEMI8_HUMAN	Q	159	ENSP00000369895:R159Q;ENSP00000381398:R159Q;ENSP00000369894:R159Q	ENSP00000369894:R159Q	R	-	2	0	GEMIN8	13937206	0.994000	0.37717	1.000000	0.80357	0.821000	0.46438	1.318000	0.33643	2.397000	0.81536	0.600000	0.82982	CGG		0.582	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		T	14027285	C	T	14027285	3	4	4	1	0	0	0	0	1	0	0	0	6334	652	23	2	256	2	GEMIN8	23	14027285	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	12442815	14027285	141243275	66	260											
KLHL34	257240	broad.mit.edu	37	chrX	21674666	21674666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccagaagtgggcccgcGcttcccgcatggcgggcact	6	5	14	16	5	0	1	0	0	0	1	1	1	1	1	3	3	0	4	3	3	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:21674666G>A	ENST00000379499.2	-	1	1782	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	414						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGGCCCGCGCTTCCCGCAT	0.721																																						uc004czz.1																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1240-1242)gCg>gTg		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							5	6	6					X																	21674666		1996	3854	5850	SO:0001583	missense	257240							g.chrX:21674666G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1241C>T	X.37:g.21674666G>A	ENSP00000368813:p.Ala414Val					JA611288_uc022btu.1_5'Flank	p.A414V	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	1783	-			414						Missense_Mutation	SNP	ENST00000379499.2	37	c.1241C>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607416	0.28623	.	.	ENSG00000185915	ENST00000379499	T	0.70282	-0.47	4.46	4.46	0.54185	Kelch-type beta propeller (1);	0.272209	0.34725	N	0.003728	T	0.69006	0.3063	M	0.73319	2.225	0.29135	N	0.879396	D	0.58268	0.982	P	0.44772	0.46	T	0.69540	-0.5118	10	0.45353	T	0.12	.	9.6576	0.39936	0.0:0.0:0.6083:0.3917	.	414	Q8N239	KLH34_HUMAN	V	414	ENSP00000368813:A414V	ENSP00000368813:A414V	A	-	2	0	KLHL34	21584587	0.999000	0.42202	0.681000	0.30009	0.315000	0.28087	3.307000	0.51888	2.055000	0.61198	0.411000	0.27672	GCG		0.721	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		A	21674666	G	A	21674666	3	1	4	1	0	0	0	0	1	0	0	0	8387	1087	38	1	697	1	KLHL34	23	21674666	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	7647381	21674666	133595894	67	261											
USP11	8237	broad.mit.edu	37	chrX	47102906	47102906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactacaacaactcctactaCggcctgatgctttttggaca	11	11	7	12	1	0	1	0	1	0	0	1	3	1	2	2	2	6	1	2	2	5	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47102906C>T	ENST00000218348.3	+	13	1824	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	USP11_ENST00000377107.2_Silent_p.Y565Y	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	608	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACTCCTACTACGGCCTGATGC	0.592																																						uc004dhp.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1822-1824)taC>taT		Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.							126	91	103					X																	47102906		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47102906C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1824C>T	X.37:g.47102906C>T						USP11_uc004dhq.3_Silent_p.Y335Y	p.Y608Y	NM_004651	NP_004642	P51784	UBP11_HUMAN			12	1824	+			608					B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.1824C>T	CCDS14277.1																																																																																				0.592	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		T	47102906	C	T	47102906	2	4	4	1	0	0	0	0	0	0	0	1	17039	547	19	1		1	USP11	23	47102906	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	25428240	47102906	108167654	68	262											
ZNF81	347344	broad.mit.edu	37	chrX	47775654	47775654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgggaaggccttcaccGacaggtcaaatttcaataaa	15	9	9	8	1	3	0	3	0	0	0	3	2	3	1	2	3	0	0	2	3	6	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47775654G>A	ENST00000376954.1	+	6	1977	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ZNF81_ENST00000338637.7_Missense_Mutation_p.D537N			P51508	ZNF81_HUMAN	zinc finger protein 81	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGCCTTCACCGACAGGTCAAA	0.443																																						uc022bvq.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1609-1611)Gac>Aac		Homo sapiens zinc finger protein 81 (ZNF81), mRNA.							62	61	61					X																	47775654		2152	4272	6424	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775654G>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1609G>A	X.37:g.47775654G>A	ENSP00000366153:p.Asp537Asn					ZNF81_uc010nhy.2_Missense_Mutation_p.D537N	p.D537N	NM_007137	NP_009068	P51508	ZNF81_HUMAN			4	1858	+		all_lung(315;0.0973)	537					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1609G>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205278	0.22205	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.35605	1.3;1.3	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000634	T	0.28001	0.0690	N	0.14661	0.345	0.09310	N	1	D	0.58268	0.982	P	0.51193	0.662	T	0.07121	-1.0789	10	0.37606	T	0.19	.	8.841	0.35142	0.0:0.0:0.7771:0.2229	.	537	P51508	ZNF81_HUMAN	N	537	ENSP00000366153:D537N;ENSP00000341151:D537N	ENSP00000341151:D537N	D	+	1	0	ZNF81	47660598	0.000000	0.05858	0.937000	0.37676	0.974000	0.67602	-0.337000	0.07852	2.445000	0.82738	0.544000	0.68410	GAC		0.443	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		A	47775654	G	A	47775654	3	1	4	1	0	0	0	0	1	0	0	0	18171	1058	37	2	1623	2	ZNF81	23	47775654	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	672748	47775654	107494906	69	263											
ERCC6L	54821	broad.mit.edu	37	chrX	71424939	71424939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcactttttatgtcaagCgctttaactaagcagtttag	10	16	7	8	1	2	0	1	0	1	0	2	0	2	0	0	0	4	4	0	0	5	8			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:71424939C>T	ENST00000334463.3	-	2	3813	c.3678G>A	c.(3676-3678)gcG>gcA	p.A1226A	ERCC6L_ENST00000373657.1_Silent_p.A1103A|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1226					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTATGTCAAGCGCTTTAACTA	0.363																																						uc004eaq.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3676-3678)gcG>gcA		Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.							77	68	71					X																	71424939		2203	4300	6503	SO:0001819	synonymous_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71424939C>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3678G>A	X.37:g.71424939C>T						PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	p.A1226A	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			1	3775	-	Renal(35;0.156)		1226					Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.3678G>A	CCDS35329.1																																																																																				0.363	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		T	71424939	C	T	71424939	2	4	4	1	0	0	0	0	0	0	0	1	5218	755	27	1		1	ERCC6L	23	71424939	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	23649285	71424939	83845621	70	264											
TBX22	50945	broad.mit.edu	37	chrX	79286010	79286010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggtggaagcagtggCtcatctccagtgacctctag	9	10	11	11	0	4	1	2	1	2	0	5	2	4	2	2	3	1	2	2	3	2	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:79286010C>T	ENST00000373294.5	+	8	991	c.963C>T	c.(961-963)ggC>ggT	p.G321G	TBX22_ENST00000373291.1_Silent_p.G201G|TBX22_ENST00000373296.3_Silent_p.G321G|TBX22_ENST00000442340.1_Silent_p.G201G	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	321					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGCAGTGGCTCATCTCCAG	0.433																																						uc010nmg.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(961-963)ggC>ggT		Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.							97	92	94					X																	79286010		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286010C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.963C>T	X.37:g.79286010C>T						TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	p.G321G	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN			8	1097	+			321					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.963C>T	CCDS14445.1																																																																																				0.433	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		T	79286010	C	T	79286010	2	4	4	1	0	0	0	0	0	0	0	1	15655	784	28	3		3	TBX22	23	79286010	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	7861071	79286010	75984550	71	265											
H2BFWT	158983	broad.mit.edu	37	chrX	103267902	103267902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcggtccaatatgtcatGaaccaaagaatccatgacac	15	8	8	10	1	1	3	1	2	0	1	3	4	3	3	3	1	2	0	3	1	5	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:103267902G>A	ENST00000217926.5	-	1	357	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	111						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637																																						uc004elr.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(331-333)Cat>Tat		Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.							46	40	42					X																	103267902		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267902G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.331C>T	X.37:g.103267902G>A	ENSP00000354723:p.His111Tyr						p.H111Y	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			0	355	-			111					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.331C>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.206604	0.39003	.	.	ENSG00000123569	ENST00000217926	T	0.67865	-0.29	2.84	-0.967	0.10316	Histone-fold (2);Histone core (1);	2.291560	0.03617	U	0.235741	T	0.59321	0.2185	L	0.38531	1.155	0.09310	N	1	P	0.46064	0.872	P	0.44732	0.459	T	0.52109	-0.8619	10	0.87932	D	0	.	5.0492	0.14499	0.0:0.1248:0.2553:0.6199	.	111	Q7Z2G1	H2BWT_HUMAN	Y	111	ENSP00000354723:H111Y	ENSP00000354723:H111Y	H	-	1	0	H2BFWT	103154558	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.660000	0.54496	-0.310000	0.08766	-0.225000	0.12378	CAT		0.637	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		A	103267902	G	A	103267902	3	1	4	1	0	0	0	0	1	0	0	0	6932	1290	45	3	204	3	H2BFWT	23	103267902	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	23981892	103267902	52002658	72	266											
FAM70A	55026	broad.mit.edu	37	chrX	119394752	119394752	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggtggtggcttttcAaaaggtggatagtagggtgg	9	12	17	3	0	1	0	1	0	0	0	1	1	1	1	0	7	0	3	0	7	5	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:119394752A>G	ENST00000309720.5	-	10	1146	c.1023T>C	c.(1021-1023)ttT>ttC	p.F341F	TMEM255A_ENST00000440464.1_Silent_p.F233F|TMEM255A_ENST00000371352.1_Silent_p.F177F|TMEM255A_ENST00000371369.4_Silent_p.F317F	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	341	Pro-rich.					integral component of membrane (GO:0016021)											GTGGCTTTTCAAAAGGTGGAT	0.507																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(1021-1023)ttT>ttC		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							129	107	114					X																	119394752		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119394752A>G	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.1023T>C	X.37:g.119394752A>G						FAM70A_uc004esp.4_Silent_p.F317F|FAM70A_uc010nqo.3_Silent_p.F233F	p.F341F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			9	1250	-			341			Pro-rich.		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.1023T>C	CCDS14597.1																																																																																				0.507	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		G	119394752	A	G	119394752	2	3	4	1	0	0	0	0	0	0	0	1	5605	127	5	4		4	FAM70A	23	119394752	Silent	SNP	A	TCGA-02-0055-01A-01D-1490-08	16126850	119394752	35875808	73	267											
F9	2158	broad.mit.edu	37	chrX	138623341	138623341	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgaaggaaagaactgTgaattaggtaagtaactatt	16	12	11	2	0	0	3	0	2	0	1	0	5	0	5	0	3	2	2	0	3	8	6			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:138623341T>G	ENST00000218099.2	+	4	391	c.384T>G	c.(382-384)tgT>tgG	p.C128W	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	128	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GAAAGAACTGTGAATTAGGTA	0.348																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(382-384)tgT>tgG		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						160	130	140					X																	138623341		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138623341T>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.384T>G	X.37:g.138623341T>G	ENSP00000218099:p.Cys128Trp					F9_uc004fat.1_Intron	p.C128W	NM_000133	NP_000124	P00740	FA9_HUMAN			3	413	+	Acute lymphoblastic leukemia(192;0.000127)		128			EGF-like 1; calcium-binding (Potential).		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.384T>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492367	0.64074	.	.	ENSG00000101981	ENST00000218099	D	0.98419	-4.92	5.81	4.65	0.58169	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97570	1.0104	10	0.87932	D	0	.	9.0244	0.36220	0.0:0.0878:0.0:0.9122	.	128	P00740	FA9_HUMAN	W	128	ENSP00000218099:C128W	ENSP00000218099:C128W	C	+	3	2	F9	138451007	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.302000	0.65733	0.819000	0.34492	0.481000	0.45027	TGT		0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			G	138623341	T	G	138623341	3	3	4	1	0	0	0	0	1	0	0	0	5351	1702	59	5	398	5	F9	23	138623341	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	19228589	138623341	16647219	74	268											
GABRA3	2556	broad.mit.edu	37	chrX	151336828	151336828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaaccttgctgacacTgttgtaggtcttggtctcag	6	16	10	9	0	3	1	2	1	2	0	4	1	3	1	1	2	2	3	1	2	2	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:151336828T>A	ENST00000370314.4	-	10	1589	c.1351A>T	c.(1351-1353)Agt>Tgt	p.S451C	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S451C	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	451					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTGCTGACACTGTTGTAGGTC	0.527																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1351-1353)Agt>Tgt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						275	215	235					X																	151336828		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336828T>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1351A>T	X.37:g.151336828T>A	ENSP00000359337:p.Ser451Cys						p.S451C	NM_000808	NP_000799	P34903	GBRA3_HUMAN			9	1591	-	Acute lymphoblastic leukemia(192;6.56e-05)		451					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1351A>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552311	0.65311	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82344	-1.6;-1.6;-1.6	4.48	4.48	0.54585	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.046390	0.85682	D	0.000000	D	0.86485	0.5944	M	0.64170	1.965	0.44055	D	0.996793	D	0.63046	0.992	P	0.57371	0.819	D	0.87394	0.2365	10	0.72032	D	0.01	.	11.0236	0.47732	0.0:0.0:0.0:1.0	.	451	P34903	GBRA3_HUMAN	C	451	ENSP00000359337:S451C;ENSP00000359334:S451C;ENSP00000443527:S451C	ENSP00000359334:S451C	S	-	1	0	GABRA3	151087484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.110000	0.64622	1.568000	0.49683	0.438000	0.28831	AGT		0.527	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		A	151336828	T	A	151336828	3	1	4	1	0	0	0	0	1	0	0	0	6162	1580	55	5	131	5	GABRA3	23	151336828	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	12713487	151336828	3933732	75	269											
CTAG2	30848	broad.mit.edu	37	chrX	153880614	153880614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctgggctccctcgggTggcggcgggcctggtgtacc	1	9	16	15	3	1	0	0	0	1	0	4	0	2	0	4	6	1	2	4	6	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:153880614T>C	ENST00000247306.4	-	2	624	c.561A>G	c.(559-561)ccA>ccG	p.P187P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	187	Poly-Pro.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCCTCGGGTGGCGGCGGGC	0.602																																						uc004fmi.2																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(559-561)ccA>ccG		Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.							64	69	67					X																	153880614		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880614T>C	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.561A>G	X.37:g.153880614T>C						CTAG2_uc004fmh.2_Intron	p.P187P	NM_020994	NP_066274	O75638	CTAG2_HUMAN			1	625	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		187			Poly-Pro.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.561A>G	CCDS14759.1																																																																																				0.602	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		C	153880614	T	C	153880614	2	2	4	1	0	0	0	0	0	0	0	1	3991	1683	59	4		4	CTAG2	23	153880614	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	2543786	153880614	1389946	76	270											
F8	2157	broad.mit.edu	37	chrX	154156957	154156957	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggggctctgatttTcatcctcatcataaatgtca	9	13	9	10	1	5	1	4	1	1	0	6	1	6	1	1	2	2	2	1	2	2	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:154156957T>G	ENST00000360256.4	-	14	5308	c.5108A>C	c.(5107-5109)gAa>gCa	p.E1703A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1703					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTGATTTTCATCCTCATC	0.408																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5107-5109)gAa>gCa		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						100	87	92					X																	154156957		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154156957T>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5108A>C	X.37:g.154156957T>G	ENSP00000353393:p.Glu1703Ala						p.E1703A	NM_000132	NP_000123	P00451	FA8_HUMAN			13	5279	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1703					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5108A>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245190	0.22796	.	.	ENSG00000185010	ENST00000360256	D	0.99136	-5.47	5.01	3.79	0.43588	.	0.402953	0.26971	N	0.021571	D	0.96337	0.8805	L	0.32530	0.975	0.09310	N	1	B	0.29766	0.256	B	0.32980	0.156	D	0.91089	0.4905	10	0.25751	T	0.34	-4.9594	7.0784	0.25217	0.2039:0.0:0.0:0.7961	.	1703	P00451	FA8_HUMAN	A	1703	ENSP00000353393:E1703A	ENSP00000353393:E1703A	E	-	2	0	F8	153810151	0.642000	0.27260	0.021000	0.16686	0.986000	0.74619	1.229000	0.32600	0.531000	0.28639	0.441000	0.28932	GAA		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			G	154156957	T	G	154156957	3	3	4	1	0	0	0	0	1	0	0	0	5350	1783	62	5	2027	5	F8	23	154156957	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	276343	154156957	1113603	77	271											
NKAIN1	79570	broad.mit.edu	37	chr1	31658176	31658176	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagccaggctgcatacTggggaaagcagaggtgggat	11	5	16	9	0	0	1	0	0	0	1	0	3	0	3	2	5	4	4	2	5	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:31658176T>C	ENST00000373736.2	-	3	199		c.e3-2		NKAIN1_ENST00000263693.1_Splice_Site|NKAIN1_ENST00000398657.2_Intron	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		GGCTGCATACTGGGGAAAGCA	0.587																																						uc010ogd.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7						c.e3-1		Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.							34	28	30					1																	31658176		2203	4300	6503	SO:0001630	splice_region_variant	79570					integral to membrane|plasma membrane		g.chr1:31658176T>C	AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"Na+/K+ transporting ATPase interacting"	25743	protein-coding gene	gene with protein product		612871	"family with sequence similarity 77, member C"	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.193-2A>G	1.37:g.31658176T>C						NKAIN1_uc010ogc.2_Intron	p.Y65_splice	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)	3	533	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)	65					A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Splice_Site	SNP	ENST00000373736.2	37	c.193_splice	CCDS339.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955463	0.73902	.	.	ENSG00000084628	ENST00000373736;ENST00000263693	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9588	0.64166	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NKAIN1	31430763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.613000	0.74192	1.965000	0.57142	0.459000	0.35465	.		0.587	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010655.2	NM_024522	Intron	C	31658176	T	C	31658176	5	2	5	1	0	0	0	0	0	0	1	0	10435	1594	55	4	452	4	NKAIN1	1	31658176	Splice_Site	SNP	T	TCGA-02-2470-01A-01D-1494-08		31658176	217592445	1	272											
KCNA2	3737	broad.mit.edu	37	chr1	111146955	111146955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgggtattcaaagagaagCcacacttgtctctgaaactc	12	11	8	10	0	3	2	1	1	2	1	5	3	3	2	1	1	2	1	1	1	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:111146955C>A	ENST00000485317.1	-	3	1123	c.450G>T	c.(448-450)tgG>tgT	p.W150C	KCNA2_ENST00000316361.4_Missense_Mutation_p.W150C|KCNA2_ENST00000440270.1_Missense_Mutation_p.W150C|KCNA2_ENST00000369770.3_Missense_Mutation_p.W150C|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	150					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CAAAGAGAAGCCACACTTGTC	0.473																																					Pancreas(18;568 735 10587 23710 36357)	uc021oro.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(448-450)tgG>tgT		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.							60	61	61					1																	111146955		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146955C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.450G>T	1.37:g.111146955C>A	ENSP00000433109:p.Trp150Cys					KCNA2_uc009wfv.2_Missense_Mutation_p.W150C|KCNA2_uc009wfw.3_Missense_Mutation_p.W150C	p.W150C	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	0	450	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	150					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.450G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186861	0.57909	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89104	0.6620	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92613	0.6101	10	0.87932	D	0	.	20.0697	0.97716	0.0:1.0:0.0:0.0	.	150;150	Q86XG6;P16389	.;KCNA2_HUMAN	C	150	ENSP00000358785:W150C;ENSP00000433109:W150C;ENSP00000415257:W150C;ENSP00000314520:W150C	ENSP00000314520:W150C	W	-	3	0	KCNA2	110948478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.751000	0.94390	0.609000	0.83330	TGG		0.473	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		A	111146955	C	A	111146955	3	1	5	1	0	0	0	0	1	0	0	0	8003	740	26	5	1053	5	KCNA2	1	111146955	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	79488779	111146955	138103666	2	273											
RYR2	6262	broad.mit.edu	37	chr1	237604722	237604722	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaacatgtagacacaggccTatggcttacttaccagtctg	12	10	8	11	0	1	1	0	0	1	1	1	1	1	1	2	2	3	2	2	2	5	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:237604722T>A	ENST00000366574.2	+	13	1426	c.1109T>A	c.(1108-1110)cTa>cAa	p.L370Q	RYR2_ENST00000360064.6_Missense_Mutation_p.L368Q|RYR2_ENST00000542537.1_Missense_Mutation_p.L354Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	370	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACACAGGCCTATGGCTTACT	0.373																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1108-1110)cTa>cAa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							141	138	139					1																	237604722		1883	4119	6002	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604722T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1109T>A	1.37:g.237604722T>A	ENSP00000355533:p.Leu370Gln						p.L370Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1229	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	370			MIR 5.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1109T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820226	0.71028	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87650	-2.28;-2.28;-2.28	5.34	5.34	0.76211	MIR motif (2);MIR (2);	0.000000	0.49305	D	0.000149	D	0.92277	0.7550	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93123	0.6526	10	0.87932	D	0	.	15.6012	0.76626	0.0:0.0:0.0:1.0	.	370	Q92736	RYR2_HUMAN	Q	370;368;354	ENSP00000355533:L370Q;ENSP00000353174:L368Q;ENSP00000443798:L354Q	ENSP00000353174:L368Q	L	+	2	0	RYR2	235671345	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.984000	0.63838	2.137000	0.66172	0.533000	0.62120	CTA		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237604722	T	A	237604722	3	1	5	1	0	0	0	0	1	0	0	0	13769	1522	53	5	1159	5	RYR2	1	237604722	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	126457767	237604722	11645899	3	274											
TPO	7173	broad.mit.edu	37	chr2	1488428	1488428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccttccagcagtacGtgggtccctatgaaggctat	8	9	12	12	2	0	1	0	1	0	0	2	2	2	1	4	3	2	3	4	3	4	4	rs373267637		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:1488428G>A	ENST00000345913.4	+	9	1490	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.V467M|TPO_ENST00000349624.3_Missense_Mutation_p.V294M|TPO_ENST00000329066.4_Missense_Mutation_p.V467M|TPO_ENST00000346956.3_Missense_Mutation_p.V467M|TPO_ENST00000382198.1_Missense_Mutation_p.V294M|TPO_ENST00000337415.3_Missense_Mutation_p.V467M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	467					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAGCAGTACGTGGGTCCCTA	0.587													g|||	1	0.000199681	0	0	5008	,	,		15211	0		0	False		,,,				2504	0.001					uc002qwr.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1399-1401)Gtg>Atg		Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)		MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	74	68	70		1399,1399,1399,1399,1399,880	2.5	0.7	2		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	21,21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	467/934,467/934,467/877,467/877,467/890,294/761	1488428	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488428G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1399G>A	2.37:g.1488428G>A	ENSP00000318820:p.Val467Met					TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.V467M|TPO_uc002qwx.3_Missense_Mutation_p.V467M|TPO_uc002qwu.3_Missense_Mutation_p.V467M|TPO_uc010yio.2_Missense_Mutation_p.V294M|TPO_uc010yip.2_Missense_Mutation_p.V467M|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	p.V467M	NM_001206744	NP_001193673	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	1485	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	467					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1399G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.123|3.123	-0.180077|-0.180077	0.06380|0.06380	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.|T;T;T;T;T;T;T;T	.|0.69175	.|-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.3|5.3	2.49|2.49	0.30216|0.30216	.|.	.|0.329390	.|0.32343	.|N	.|0.006237	T|T	0.48370|0.48370	0.1496|0.1496	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.54601	.|0.76;0.967;0.76;0.798	.|B;B;B;B	.|0.42386	.|0.17;0.386;0.118;0.261	T|T	0.37957|0.37957	-0.9683|-0.9683	6|10	0.72032|0.30078	D|T	0.01|0.28	-34.9782|-34.9782	6.0076|6.0076	0.19554|0.19554	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	.|467;294;467;467	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	H|M	150|467;467;467;294;467;467;294;396	.|ENSP00000337263:V467M;ENSP00000318820:V467M;ENSP00000263886:V467M;ENSP00000332044:V294M;ENSP00000329869:V467M;ENSP00000371636:V467M;ENSP00000371633:V294M;ENSP00000405788:V396M	ENSP00000439133:R150H|ENSP00000329869:V467M	R|V	+|+	2|1	0|0	TPO|TPO	1467435|1467435	0.723000|0.723000	0.28027|0.28027	0.711000|0.711000	0.30485|0.30485	0.026000|0.026000	0.11368|0.11368	0.774000|0.774000	0.26675|0.26675	1.230000|1.230000	0.43646|0.43646	-0.265000|-0.265000	0.10407|0.10407	CGT|GTG		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1488428	G	A	1488428	3	1	5	1	0	0	0	0	1	0	0	0	16407	1145	40	1	1429	1	TPO	2	1488428	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		1488428	241710945	4	275											
EMILIN1	11117	broad.mit.edu	37	chr2	27303034	27303034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggaactggtgtgcctaCgtggtgacccggacagtgag	9	8	15	9	2	0	2	0	2	0	0	0	4	0	4	2	4	4	0	2	4	3	2	rs373206233		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:27303034C>T	ENST00000380320.4	+	2	685	c.186C>T	c.(184-186)taC>taT	p.Y62Y		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	62	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTGCCTACGTGGTGACCC	0.592													c|||	1	0.000199681	0	0	5008	,	,		20643	0		0.001	False		,,,				2504	0					uc002rii.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(184-186)taC>taT		Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.		T		0,4406		0,0,2203	200	177	185		186	-6.8	0.2	2		185	1,8599		0,1,4299	no	coding-synonymous	EMILIN1	NM_007046.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		62/1017	27303034	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27303034C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.186C>T	2.37:g.27303034C>T						EMILIN1_uc010eyq.2_Silent_p.Y62Y	p.Y62Y	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			1	685	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.186C>T	CCDS1733.1																																																																																				0.592	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		T	27303034	C	T	27303034	2	4	5	1	0	0	0	0	0	0	0	1	5093	547	19	1		1	EMILIN1	2	27303034	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	25814606	27303034	215896339	5	276											
PSME4	23198	broad.mit.edu	37	chr2	54094006	54094006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctagcaccccagcatggcGtttgaccaactctgcaaaga	11	8	8	14	1	1	2	0	1	1	1	2	2	2	2	4	1	4	4	4	1	3	2	rs375540598		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:54094006G>A	ENST00000404125.1	-	45	5330	c.5275C>T	c.(5275-5277)Cgc>Tgc	p.R1759C	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.R903C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAGCATGGCGTTTGACCAAC	0.418																																						uc002rxp.2																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5275-5277)Cgc>Tgc		Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.							101	89	93					2																	54094006		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54094006G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5275C>T	2.37:g.54094006G>A	ENSP00000384211:p.Arg1759Cys					PSME4_uc010yop.1_Missense_Mutation_p.R1649C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C	p.R1759C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		44	5331	-			1759					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.5275C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455253	0.84209	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.65916	-0.18;-0.18	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.90650	3.135	0.80722	D	1	D;P;P;D	0.63046	0.992;0.766;0.766;0.987	P;B;B;P	0.55011	0.757;0.158;0.158;0.766	D	0.84252	0.0478	10	0.72032	D	0.01	-14.289	20.0745	0.97737	0.0:0.0:1.0:0.0	.	1134;903;903;1759	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	C	903;1759	ENSP00000410830:R903C;ENSP00000384211:R1759C	ENSP00000384211:R1759C	R	-	1	0	PSME4	53947510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.837000	0.99465	2.748000	0.94277	0.462000	0.41574	CGC		0.418	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		A	54094006	G	A	54094006	3	1	5	1	0	0	0	0	1	0	0	0	12709	1145	40	1	264	1	PSME4	2	54094006	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	26790972	54094006	189105367	6	277											
IL1R2	7850	broad.mit.edu	37	chr2	102638708	102638708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagaccatatcagcttctCtgggtaaggcccacaaggac	12	8	9	12	0	3	1	2	0	1	1	4	2	3	2	2	3	1	2	2	3	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:102638708C>T	ENST00000332549.3	+	6	977	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	IL1R2_ENST00000393414.2_Silent_p.L250L|IL1R2_ENST00000441002.1_Silent_p.L250L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	250	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATCAGCTTCTCTGGGTAAGGC	0.507																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.3																			0		p.S249Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(748-750)Ctg>Ttg		Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	Anakinra(DB00026)						148	144	145					2																	102638708		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638708C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.748C>T	2.37:g.102638708C>T						IL1R2_uc002tbn.3_Silent_p.L250L|IL1R2_uc002tbo.1_Silent_p.L250L	p.L250L	NM_004633	NP_775465	P27930	IL1R2_HUMAN			5	977	+			250			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.748C>T	CCDS2054.1																																																																																				0.507	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		T	102638708	C	T	102638708	2	4	5	1	0	0	0	0	0	0	0	1	7659	912	32	3		3	IL1R2	2	102638708	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	48544702	102638708	140560665	7	278											
SLC5A7	60482	broad.mit.edu	37	chr2	108609520	108609520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaacgcatgggcggaCtcctgtttattcctgcactg	9	11	11	10	2	0	0	0	0	0	0	2	2	2	2	2	3	2	3	2	3	3	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:108609520C>A	ENST00000264047.2	+	4	661	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	SLC5A7_ENST00000540517.1_Missense_Mutation_p.L24I|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L129I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	129					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATGGGCGGACTCCTGTTTAT	0.453																																						uc002tdv.3																			0		p.L129L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(385-387)Ctc>Atc		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						136	127	130					2																	108609520		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609520C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.385C>A	2.37:g.108609520C>A	ENSP00000264047:p.Leu129Ile					SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L129I|SLC5A7_uc010ywn.2_Missense_Mutation_p.L16I	p.L129I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	661	+			129					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.385C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200296	0.79015	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88586	-2.4;-2.4;-2.4	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.72576	2.205	0.80722	D	1	P	0.37500	0.597	P	0.48654	0.585	D	0.89535	0.3788	10	0.39692	T	0.17	-20.7403	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	129	Q9GZV3	SC5A7_HUMAN	I	129;24;129	ENSP00000387346:L129I;ENSP00000445351:L24I;ENSP00000264047:L129I	ENSP00000264047:L129I	L	+	1	0	SLC5A7	107975952	0.996000	0.38824	0.984000	0.44739	0.861000	0.49209	3.330000	0.52068	2.880000	0.98712	0.650000	0.86243	CTC		0.453	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108609520	C	A	108609520	3	1	5	1	0	0	0	0	1	0	0	0	14670	565	20	5	395	5	SLC5A7	2	108609520	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	5970812	108609520	134589853	8	279											
STAM2	10254	broad.mit.edu	37	chr2	153003822	153003822	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcacatactttaggatgtgCcttttaaggaaaaggaaagg	14	12	10	5	0	1	0	1	0	0	0	1	3	1	3	1	4	2	0	1	4	6	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:153003822C>T	ENST00000263904.4	-	5	650	c.301G>A	c.(301-303)Gca>Aca	p.A101T	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	101	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTAGGATGTGCCTTTTAAGGA	0.299																																						uc002tyc.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.e5-1		Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.							53	54	53					2																	153003822		2203	4300	6503	SO:0001630	splice_region_variant	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003822C>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.301-1G>A	2.37:g.153003822C>T						STAM2_uc010foa.1_Splice_Site_p.A101_splice|STAM2_uc002tyd.3_Splice_Site_p.A101_splice	p.A101_splice	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	651	-			101			VHS.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.301_splice	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869154	0.72065	.	.	ENSG00000115145	ENST00000263904	T	0.21932	1.98	4.66	4.66	0.58398	Src homology-3 domain (1);VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.096397	0.64402	D	0.000001	T	0.10121	0.0248	N	0.04724	-0.175	0.80722	D	1	B;B	0.24823	0.002;0.112	B;B	0.24269	0.006;0.052	T	0.11446	-1.0587	10	0.07325	T	0.83	-19.5996	15.4124	0.74937	0.0:1.0:0.0:0.0	.	101;101	O75886-2;O75886	.;STAM2_HUMAN	T	101	ENSP00000263904:A101T	ENSP00000263904:A101T	A	-	1	0	STAM2	152712068	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.915000	0.63355	2.576000	0.86940	0.591000	0.81541	GCA		0.299	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843	Missense_Mutation	T	153003822	C	T	153003822	5	4	5	1	0	0	0	0	0	0	1	0	15248	753	26	3	1316	3	STAM2	2	153003822	Splice_Site	SNP	C	TCGA-02-2470-01A-01D-1494-08	44394302	153003822	90195551	9	280											
NHEJ1	79840	broad.mit.edu	37	chr2	220012493	220012493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagactcatgcccatcaGaggacgaatcaaatgttggg	12	8	11	10	1	3	2	3	0	0	2	3	4	3	3	2	2	2	1	2	2	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:220012493G>A	ENST00000356853.5	-	4	548	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	NHEJ1_ENST00000409720.1_Silent_p.L139L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	139					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ATGCCCATCAGAGGACGAATC	0.433								Non-homologous end-joining																														uc002vjp.4																			0				kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12						c.(415-417)Ctg>Ttg	Non-homologous end-joining	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.							116	96	103					2																	220012493		2203	4300	6503	SO:0001819	synonymous_variant	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:220012493G>A	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.415C>T	2.37:g.220012493G>A						NHEJ1_uc002vjq.4_Non-coding_Transcript	p.L139L	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	3	561	-		Renal(207;0.0915)	139					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Silent	SNP	ENST00000356853.5	37	c.415C>T	CCDS2432.1																																																																																				0.433	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		A	220012493	G	A	220012493	2	1	5	1	0	0	0	0	0	0	0	1	10402	933	33	3		3	NHEJ1	2	220012493	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	67008671	220012493	23186880	10	281											
XYLB	9942	broad.mit.edu	37	chr3	38411555	38411555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttcctcaggttctggaAtgaatttgttgcagatacag	9	15	9	8	0	2	2	1	1	1	1	4	3	4	3	2	2	2	3	2	2	3	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:38411555A>G	ENST00000207870.3	+	9	745	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	XYLB_ENST00000542835.1_Missense_Mutation_p.M82V	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	219					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGGTTCTGGAATGAATTTGTT	0.443																																						uc003cic.2																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(655-657)Atg>Gtg		Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.							254	236	242					3																	38411555		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38411555A>G	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.655A>G	3.37:g.38411555A>G	ENSP00000207870:p.Met219Val					XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	p.M219V	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	8	764	+			219					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.655A>G	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954735	0.73902	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.46451	0.87;0.87	5.22	5.22	0.72569	Carbohydrate kinase, FGGY, N-terminal (1);	0.039251	0.85682	D	0.000000	T	0.70806	0.3266	M	0.93016	3.37	0.47621	D	0.999473	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.78521	-0.2172	10	0.72032	D	0.01	.	13.0377	0.58881	1.0:0.0:0.0:0.0	.	82;219	B4DDT2;O75191	.;XYLB_HUMAN	V	219;82	ENSP00000207870:M219V;ENSP00000443659:M82V	ENSP00000207870:M219V	M	+	1	0	XYLB	38386559	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.663000	0.83820	1.955000	0.56771	0.459000	0.35465	ATG		0.443	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		G	38411555	A	G	38411555	3	3	5	1	0	0	0	0	1	0	0	0	17459	101	4	4	689	4	XYLB	3	38411555	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08		38411555	159610875	11	282											
CD96	10225	broad.mit.edu	37	chr3	111264248	111264248	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttctcattcagacacaCggtaagcataactggtagag	14	9	8	10	1	2	2	2	0	1	2	3	2	2	2	1	2	3	3	1	2	4	5	rs368182013		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:111264248C>T	ENST00000283285.5	+	2	548	c.417C>T	c.(415-417)caC>caT	p.H139H	CD96_ENST00000438817.2_Splice_Site_p.H139H|CD96_ENST00000352690.4_Splice_Site_p.H139H	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	139					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCAGACACACGGTAAGCATA	0.418									Opitz Trigonocephaly syndrome																													uc003dxw.3																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.e2+1		Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.		C	,	1,4403		0,1,2201	49	43	45		417,417	-5.2	0	3		45	1,8597		0,1,4298	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CD96	NM_005816.4,NM_198196.2	,	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154	,	139/570,139/586	111264248	2,13000	2202	4299	6501	SO:0001630	splice_region_variant	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111264248C>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.418+1C>T	3.37:g.111264248C>T						CD96_uc003dxv.3_Splice_Site_p.V140_splice|CD96_uc003dxx.3_Splice_Site_p.V140_splice|CD96_uc010hpy.1_Splice_Site_p.V140_splice	p.V140_splice	NM_198196	NP_937839	P40200	TACT_HUMAN			2	588	+			140					Q5JPB3	Silent	SNP	ENST00000283285.5	37	c.418_splice	CCDS2959.1																																																																																				0.418	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		Silent	T	111264248	C	T	111264248	5	4	5	1	0	0	0	0	0	0	1	0	3048	550	19	1	423	1	CD96	3	111264248	Splice_Site	SNP	C	TCGA-02-2470-01A-01D-1494-08	72852693	111264248	86758182	12	283											
DOK7	285489	broad.mit.edu	37	chr4	3478126	3478126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttggagagcggcccggctaCcctgcacctctgcaatgatg	7	8	13	13	2	1	2	0	1	1	1	1	3	1	2	3	3	4	4	3	3	2	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:3478126C>A	ENST00000340083.5	+	4	454	c.389C>A	c.(388-390)aCc>aAc	p.T130N	DOK7_ENST00000507039.1_Missense_Mutation_p.T130N|DOK7_ENST00000389653.2_Missense_Mutation_p.T130N	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	130	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCCGGCTACCCTGCACCTC	0.672																																						uc003ghd.3																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(388-390)aCc>aAc		Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.							84	68	74					4																	3478126		2203	4299	6502	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3478126C>A	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.389C>A	4.37:g.3478126C>A	ENSP00000344432:p.Thr130Asn					DOK7_uc003ghe.3_Missense_Mutation_p.T130N	p.T130N	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	459	+			130			IRS-type PTB.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.389C>A	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692492	0.68271	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	T;T;T	0.74947	-0.89;-0.89;-0.89	4.42	3.54	0.40534	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.194692	0.43260	D	0.000581	T	0.80824	0.4697	M	0.64997	1.995	0.37044	D	0.897292	D	0.62365	0.991	D	0.66716	0.946	T	0.79145	-0.1924	10	0.14656	T	0.56	-5.1456	13.008	0.58717	0.0:0.8363:0.1637:0.0	.	130	Q18PE1	DOK7_HUMAN	N	130	ENSP00000374304:T130N;ENSP00000423614:T130N;ENSP00000344432:T130N	ENSP00000344432:T130N	T	+	2	0	DOK7	3447924	0.998000	0.40836	0.723000	0.30687	0.957000	0.61999	4.254000	0.58798	0.782000	0.33613	0.491000	0.48974	ACC		0.672	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		A	3478126	C	A	3478126	3	1	5	1	0	0	0	0	1	0	0	0	4702	507	18	5	403	5	DOK7	4	3478126	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		3478126	187676150	13	284											
GABRA4	2557	broad.mit.edu	37	chr4	46967126	46967126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaaactcgataagggccGaaaatacaaaagcaaagcag	20	3	9	9	2	0	0	0	0	0	0	1	2	0	0	1	1	5	3	1	1	8	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:46967126G>A	ENST00000264318.3	-	8	1977	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	332					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATAAGGGCCGAAAATACAAA	0.458																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(994-996)tCg>tTg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						136	123	127					4																	46967126		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967126G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.995C>T	4.37:g.46967126G>A	ENSP00000264318:p.Ser332Leu					GABRA4_uc021xnz.1_Missense_Mutation_p.S313L|GABRA4_uc021xoa.1_Missense_Mutation_p.S262L	p.S332L	NM_000809	NP_000800	P48169	GBRA4_HUMAN			7	1978	-			332					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.995C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249590	0.95305	.	.	ENSG00000109158	ENST00000264318	D	0.85339	-1.97	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	N	0.13371	0.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85262	0.1051	10	0.31617	T	0.26	.	17.0404	0.86488	0.0:0.0:1.0:0.0	.	332	P48169	GBRA4_HUMAN	L	332	ENSP00000264318:S332L	ENSP00000264318:S332L	S	-	2	0	GABRA4	46661883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.481000	0.83766	0.591000	0.81541	TCG		0.458	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			A	46967126	G	A	46967126	3	1	5	1	0	0	0	0	1	0	0	0	6163	1059	37	2	677	2	GABRA4	4	46967126	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	43489000	46967126	144187150	14	285											
NUP54	53371	broad.mit.edu	37	chr4	77065621	77065621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtcccaaatcctccaaAcccacctaattaaaaaagaa	17	9	3	12	0	0	1	0	0	0	1	3	1	3	1	5	0	1	1	5	0	7	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:77065621A>G	ENST00000264883.3	-	2	213	c.73T>C	c.(73-75)Ttt>Ctt	p.F25L	NUP54_ENST00000514987.1_Missense_Mutation_p.F25L|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	25	9 X 2 AA repeats of F-G.|Gly-rich.			AGGF -> GWV (in Ref. 1; AAF67488). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCCTCCAAACCCACCTAAT	0.333																																						uc003hjs.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(73-75)Ttt>Ctt		Homo sapiens nucleoporin 54kDa (NUP54), mRNA.							73	70	71					4																	77065621		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77065621A>G	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.73T>C	4.37:g.77065621A>G	ENSP00000264883:p.Phe25Leu					NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.F25L|NUP54_uc003hjt.3_5'UTR	p.F25L	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			1	201	-			25	AGGF -> GWV (in Ref. 1; AAF67488).		9 X 2 AA repeats of F-G.|Gly-rich.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.73T>C	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128978	0.77549	.	.	ENSG00000138750	ENST00000264883;ENST00000514987;ENST00000514901	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.64170	1.965	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.77056	-0.2729	9	0.59425	D	0.04	-19.8299	14.5997	0.68432	1.0:0.0:0.0:0.0	.	25;25	B4DT35;Q7Z3B4	.;NUP54_HUMAN	L	25;25;79	.	ENSP00000264883:F25L	F	-	1	0	NUP54	77284645	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.820000	0.86633	2.182000	0.69389	0.533000	0.62120	TTT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			G	77065621	A	G	77065621	3	3	5	1	0	0	0	0	1	0	0	0	10767	43	2	4	1494	4	NUP54	4	77065621	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	30098495	77065621	114088655	15	286											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916597	86916597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttttggatgggccccCgcaggacgacctttcccacc	5	9	10	17	2	0	0	0	0	0	0	1	3	1	2	6	3	0	2	6	3	0	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:86916597C>A	ENST00000395184.1	+	9	2256	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.P502Q|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.P504Q	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	597					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGGCCCCCGCAGGACGAC	0.557																																						uc003hpk.3																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1789-1791)cCg>cAg		Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.							68	70	69					4																	86916597		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916597C>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1790C>A	4.37:g.86916597C>A	ENSP00000378611:p.Pro597Gln					ARHGAP24_uc003hpl.3_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.3_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.3_Missense_Mutation_p.P504Q	p.P597Q	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	8	2239	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	597					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.1790C>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301950	0.23736	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.13420	2.93;2.6;2.59;2.59	5.73	5.73	0.89815	.	0.237133	0.44902	D	0.000407	T	0.18299	0.0439	L	0.57536	1.79	0.09310	N	0.999997	P;B;P	0.46621	0.873;0.283;0.881	P;B;B	0.44860	0.462;0.084;0.431	T	0.24512	-1.0158	10	0.14656	T	0.56	.	15.4941	0.75634	0.1391:0.8609:0.0:0.0	.	502;504;597	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	Q	597;502;512;504	ENSP00000378611:P597Q;ENSP00000378610:P502Q;ENSP00000425589:P512Q;ENSP00000264343:P504Q	ENSP00000264343:P504Q	P	+	2	0	ARHGAP24	87135621	0.041000	0.20044	0.380000	0.26093	0.464000	0.32679	1.692000	0.37731	2.710000	0.92621	0.491000	0.48974	CCG		0.557	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		A	86916597	C	A	86916597	3	1	5	1	0	0	0	0	1	0	0	0	873	652	23	5	1936	5	ARHGAP24	4	86916597	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	9850976	86916597	104237679	16	287											
PDHA2	5161	broad.mit.edu	37	chr4	96761886	96761886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactttatatggggatggCgctgcgaatcaggggcagat	9	11	15	6	2	1	2	1	1	0	1	1	4	1	3	0	5	1	2	0	5	3	4	rs550687466		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:96761886C>T	ENST00000295266.4	+	1	648	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	195					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.G195G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGGGGATGGCGCTGCGAATC	0.473													C|||	1	0.000199681	0	0	5008	,	,		18902	0.001		0	False		,,,				2504	0					uc003htr.4																			1	Substitution - coding silent(1)	p.G195G(2)	kidney(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(583-585)ggC>ggT		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						61	65	64					4																	96761886		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761886C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.585C>T	4.37:g.96761886C>T							p.G195G	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	648	+		Hepatocellular(203;0.114)	195					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.585C>T	CCDS3644.1																																																																																				0.473	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			T	96761886	C	T	96761886	2	4	5	1	0	0	0	0	0	0	0	1	11665	755	27	1		1	PDHA2	4	96761886	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	9845289	96761886	94392390	17	288											
ADH7	131	broad.mit.edu	37	chr4	100349053	100349053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaccactgtgtactcGgtaaatgtactggtgttcat	9	14	8	10	1	2	0	2	0	0	0	4	0	3	0	2	2	2	4	2	2	4	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:100349053G>A	ENST00000209665.4	-	5	717	c.477C>T	c.(475-477)acC>acT	p.T159T	ADH7_ENST00000476959.1_Silent_p.T167T|ADH7_ENST00000482593.1_Silent_p.T90T|ADH7_ENST00000437033.2_Silent_p.T147T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	159					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CTGTGTACTCGGTAAATGTAC	0.458																																						uc003huv.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(475-477)acC>acT		Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	NADH(DB00157)						265	204	224					4																	100349053		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349053G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.477C>T	4.37:g.100349053G>A						ADH7_uc021xqj.1_Silent_p.T167T	p.T159T	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	4	718	-			159					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.477C>T	CCDS34034.1																																																																																				0.458	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		A	100349053	G	A	100349053	2	1	5	1	0	0	0	0	0	0	0	1	313	1103	39	2		2	ADH7	4	100349053	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	3587167	100349053	90805223	18	289											
DCHS2	54798	broad.mit.edu	37	chr4	155157377	155157377	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgagaaaacagggtgaTacaatagaataggtcaattc	17	9	11	4	0	1	4	1	3	0	2	2	5	1	4	0	2	2	0	0	2	8	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:155157377T>C	ENST00000357232.4	-	25	7061	c.7062A>G	c.(7060-7062)gtA>gtG	p.V2354V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2354	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACAGGGTGATACAATAGAAT	0.393																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7060-7062)gtA>gtG		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							103	97	99					4																	155157377		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157377T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7062A>G	4.37:g.155157377T>C							p.V2354V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	24	7062	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2354			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7062A>G	CCDS3785.1																																																																																				0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		C	155157377	T	C	155157377	2	2	5	1	0	0	0	0	0	0	0	1	4288	1393	49	4		4	DCHS2	4	155157377	Silent	SNP	T	TCGA-02-2470-01A-01D-1494-08	54808324	155157377	35996899	19	290											
CCDC110	256309	broad.mit.edu	37	chr4	186381079	186381079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtaattttggatttaTccagaattactgtatcagct	12	15	7	7	0	1	1	1	0	0	1	2	2	2	2	1	1	2	4	1	1	5	7			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:186381079T>C	ENST00000307588.3	-	6	737	c.662A>G	c.(661-663)gAt>gGt	p.D221G	CCDC110_ENST00000393540.3_Missense_Mutation_p.D184G|CCDC110_ENST00000510617.1_Missense_Mutation_p.D221G|CCDC110_ENST00000507501.1_Intron	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	221						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGATTTATCCAGAATTAC	0.323																																						uc003ixu.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(661-663)gAt>gGt		Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.							55	54	54					4																	186381079		2203	4300	6503	SO:0001583	missense	256309					nucleus		g.chr4:186381079T>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.662A>G	4.37:g.186381079T>C	ENSP00000306776:p.Asp221Gly					CCDC110_uc003ixv.4_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	p.D221G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	738	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	221					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.662A>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	1.127	-0.653576	0.03480	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	T;T;T;T	0.53640	2.9;2.87;2.87;0.61	5.8	-1.91	0.07641	.	0.348517	0.24072	N	0.041814	T	0.31104	0.0786	L	0.38531	1.155	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.13407	0.009;0.004;0.005	T	0.21143	-1.0254	10	0.56958	D	0.05	-4.9766	6.7837	0.23662	0.1161:0.3472:0.0:0.5367	.	221;184;221	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	G	184;221;221;241	ENSP00000377172:D184G;ENSP00000306776:D221G;ENSP00000427246:D221G;ENSP00000425276:D241G	ENSP00000306776:D221G	D	-	2	0	CCDC110	186618073	0.018000	0.18449	0.009000	0.14445	0.144000	0.21451	-0.065000	0.11617	-0.081000	0.12662	-1.007000	0.02485	GAT		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		C	186381079	T	C	186381079	3	2	5	1	0	0	0	0	1	0	0	0	2747	1435	50	4	1847	4	CCDC110	4	186381079	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	31223702	186381079	4773197	20	291											
WDR70	55100	broad.mit.edu	37	chr5	37480065	37480065	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtataaaaggagaccagtaTattgtggacatggccaacac	15	9	10	7	0	0	1	0	0	0	1	0	3	0	2	2	3	1	2	2	3	6	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:37480065T>G	ENST00000265107.4	+	8	972	c.816T>G	c.(814-816)taT>taG	p.Y272*	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Nonsense_Mutation_p.Y272*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	272							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGACCAGTATATTGTGGACA	0.348																																						uc003jkv.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(814-816)taT>taG		Homo sapiens WD repeat domain 70 (WDR70), mRNA.							167	159	162					5																	37480065		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37480065T>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.816T>G	5.37:g.37480065T>G	ENSP00000265107:p.Tyr272*					WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	p.Y272*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	874	+	all_lung(31;0.000285)		272					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.816T>G	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	T	39	7.469000	0.98302	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.66	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8179	8.2785	0.31887	0.0:0.3396:0.0:0.6604	.	.	.	.	X	272	.	ENSP00000265107:Y272X	Y	+	3	2	WDR70	37515822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.941000	0.29005	0.857000	0.35407	0.533000	0.62120	TAT		0.348	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		G	37480065	T	G	37480065	4	3	5	1	0	0	0	0	0	1	0	0	17318	1413	49	5	846	5	WDR70	5	37480065	Nonsense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08		37480065	143435195	21	292											
C5orf34	375444	broad.mit.edu	37	chr5	43509299	43509299	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaattctttctggttgtTctaaaggatgtgctgaaaca	11	14	10	6	1	3	1	0	1	3	0	3	4	3	2	0	2	2	3	0	2	4	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:43509299T>G	ENST00000306862.2	-	2	518	c.143A>C	c.(142-144)gAa>gCa	p.E48A	RP11-159F24.3_ENST00000505645.1_RNA|RP11-159F24.6_ENST00000512498.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	48										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTCTGGTTGTTCTAAAGGATG	0.358																																						uc003jnz.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(142-144)gAa>gCa		Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.							118	115	116					5																	43509299		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43509299T>G	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.143A>C	5.37:g.43509299T>G	ENSP00000303490:p.Glu48Ala					C5orf34_uc011cpx.2_Intron	p.E48A	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			1	545	-	Lung NSC(6;2.07e-05)		48						Missense_Mutation	SNP	ENST00000306862.2	37	c.143A>C	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246934	0.59103	.	.	ENSG00000172244	ENST00000306862	T	0.46451	0.87	5.05	5.05	0.67936	.	0.313247	0.34828	N	0.003648	T	0.37865	0.1019	L	0.60455	1.87	0.34410	D	0.696278	P	0.40731	0.728	B	0.33690	0.168	T	0.60439	-0.7263	10	0.72032	D	0.01	-6.1891	13.3113	0.60382	0.0:0.0:0.0:1.0	.	48	Q96MH7	CE034_HUMAN	A	48	ENSP00000303490:E48A	ENSP00000303490:E48A	E	-	2	0	C5orf34	43545056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.684000	0.54671	2.027000	0.59764	0.533000	0.62120	GAA		0.358	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		G	43509299	T	G	43509299	3	3	5	1	0	0	0	0	1	0	0	0	2293	1783	62	5	1821	5	C5orf34	5	43509299	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	6029234	43509299	137405961	22	293											
ERGIC1	57222	broad.mit.edu	37	chr5	172336690	172336690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacgagctctatgtcgAtgacccagacaaggacagcg	12	7	12	10	3	1	3	0	2	1	1	2	6	1	4	1	1	3	1	1	1	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:172336690A>G	ENST00000393784.3	+	4	315	c.176A>G	c.(175-177)gAt>gGt	p.D59G	ERGIC1_ENST00000523291.1_Missense_Mutation_p.D59G|ERGIC1_ENST00000326654.2_Missense_Mutation_p.D14G	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	59					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCTATGTCGATGACCCAGAC	0.542																																						uc003mbw.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9						c.(175-177)gAt>gGt		Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.							230	174	193					5																	172336690		2203	4300	6503	SO:0001583	missense	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172336690A>G	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.176A>G	5.37:g.172336690A>G	ENSP00000377374:p.Asp59Gly					ERGIC1_uc003mby.4_5'UTR|ERGIC1_uc011dfa.2_5'UTR|ERGIC1_uc003mbz.4_Missense_Mutation_p.D14G	p.D59G	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	370	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	59					Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	c.176A>G	CCDS34292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.155557|4.155557	0.78114|0.78114	.|.	.|.	ENSG00000113719|ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291;ENST00000518247;ENST00000326654|ENST00000519567	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86644|0.86644	0.5982|0.5982	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.978|.	D;P|.	0.77004|.	0.989;0.809|.	D|D	0.90702|0.90702	0.4621|0.4621	9|5	0.87932|.	D|.	0|.	-14.0036|-14.0036	14.6073|14.6073	0.68489|0.68489	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	14;59|.	Q969X5-3;Q969X5|.	.;ERGI1_HUMAN|.	G|V	59;59;59;14;14|48	.|.	ENSP00000325127:D14G|.	D|M	+|+	2|1	0|0	ERGIC1|ERGIC1	172269296|172269296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	9.033000|9.033000	0.93741|0.93741	1.911000|1.911000	0.55334|0.55334	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.542	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		G	172336690	A	G	172336690	3	3	5	1	0	0	0	0	1	0	0	0	5223	333	12	4	190	4	ERGIC1	5	172336690	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	128827391	172336690	8578570	23	294											
KIF13A	63971	broad.mit.edu	37	chr6	17837205	17837205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcacaacagcatggttCacaatccttttggctcggtc	9	13	7	12	1	3	0	3	0	0	0	6	0	4	0	1	3	2	3	1	3	2	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:17837205C>T	ENST00000259711.6	-	11	1164	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	KIF13A_ENST00000378816.5_Silent_p.V353V|KIF13A_ENST00000378814.5_Silent_p.V353V|KIF13A_ENST00000378826.2_Silent_p.V353V|KIF13A_ENST00000378843.2_Silent_p.V353V	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	353					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCATGGTTCACAATCCTTT	0.502																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1057-1059)gtG>gtA		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							286	281	283					6																	17837205		2005	4177	6182	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837205C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1059G>A	6.37:g.17837205C>T						KIF13A_uc003ncf.3_Silent_p.V353V|KIF13A_uc003nch.4_Silent_p.V353V|KIF13A_uc003nci.4_Silent_p.V353V|KIF13A_uc003ncj.3_Silent_p.V29V	p.V353V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		10	1219	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	353					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.1059G>A	CCDS47381.1																																																																																				0.502	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17837205	C	T	17837205	2	4	5	1	0	0	0	0	0	0	0	1	8274	813	29	3		3	KIF13A	6	17837205	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		17837205	153277862	24	295											
RFX6	222546	broad.mit.edu	37	chr6	117215161	117215161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctctaggtatcattactAtgggattggcatcaaagaga	12	13	10	6	0	3	1	2	0	1	1	3	3	3	2	0	3	2	3	0	3	5	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:117215161A>C	ENST00000332958.2	+	5	594	c.578A>C	c.(577-579)tAt>tCt	p.Y193S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	193					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATCATTACTATGGGATTGGC	0.413																																						uc003pxm.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(577-579)tAt>tCt		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							177	156	163					6																	117215161		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117215161A>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.578A>C	6.37:g.117215161A>C	ENSP00000332208:p.Tyr193Ser						p.Y193S	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			4	641	+			193					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.578A>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365317	0.82463	.	.	ENSG00000185002	ENST00000332958	D	0.82619	-1.63	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.121474	0.64402	D	0.000018	T	0.80127	0.4566	M	0.72118	2.19	0.80722	D	1	P	0.43352	0.804	B	0.43575	0.424	D	0.84265	0.0485	10	0.87932	D	0	-8.96	14.7686	0.69659	1.0:0.0:0.0:0.0	.	193	Q8HWS3	RFX6_HUMAN	S	193	ENSP00000332208:Y193S	ENSP00000332208:Y193S	Y	+	2	0	RFX6	117321854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.707000	0.91367	2.282000	0.76494	0.533000	0.62120	TAT		0.413	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		C	117215161	A	C	117215161	3	2	5	1	0	0	0	0	1	0	0	0	13267	449	16	5	596	5	RFX6	6	117215161	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	99377956	117215161	53899906	25	296											
SYNJ2	8871	broad.mit.edu	37	chr6	158483196	158483196	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggagaacgtcagtccacGgtgaggctcgctgcgcactg	7	6	17	11	4	1	2	1	1	0	1	3	3	2	2	1	4	2	3	1	4	1	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:158483196G>A	ENST00000355585.4	+	8	1202	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	SYNJ2_ENST00000449859.2_Splice_Site_p.R304H|SYNJ2_ENST00000367121.3_Splice_Site_p.R376H|SYNJ2_ENST00000367122.2_Splice_Site_p.R376H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	376	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCAGTCCACGGTGAGGCTCG	0.607																																						uc003qqx.2																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e8+1		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.							131	120	124					6																	158483196		2203	4300	6503	SO:0001630	splice_region_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483196G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1127+1G>A	6.37:g.158483196G>A						SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Splice_Site_p.R376_splice|SYNJ2_uc003qqy.2_Splice_Site_p.R139_splice|SYNJ2_uc011efn.1_Splice_Site_p.R304_splice|SYNJ2_uc010kjo.1_Splice_Site_p.R325_splice|SYNJ2_uc003qqz.2_5'UTR	p.R376_splice	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1233	+			376			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1127_splice	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886209	0.91814	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	D;D;D;T	0.94687	-3.22;-3.49;-3.24;1.17	5.12	5.12	0.69794	Synaptojanin, N-terminal (1);	0.093958	0.47455	D	0.000224	D	0.96682	0.8917	M	0.73962	2.25	0.80722	D	1	D;P;D;D	0.89917	0.999;0.48;1.0;0.998	P;B;D;D	0.69479	0.891;0.163;0.964;0.909	D	0.97047	0.9761	10	0.72032	D	0.01	.	18.63	0.91357	0.0:0.0:1.0:0.0	.	304;376;376;376	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	H	376;376;376;304	ENSP00000356089:R376H;ENSP00000356088:R376H;ENSP00000347792:R376H;ENSP00000388371:R304H	ENSP00000347792:R376H	R	+	2	0	SYNJ2	158403184	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.307000	0.89964	2.407000	0.81776	0.456000	0.33151	CGT		0.607	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		Missense_Mutation	A	158483196	G	A	158483196	5	1	5	1	0	0	0	0	0	0	1	0	15450	1130	39	2	1157	2	SYNJ2	6	158483196	Splice_Site	SNP	G	TCGA-02-2470-01A-01D-1494-08	41268035	158483196	12631871	26	297											
IGFBP1	3484	broad.mit.edu	37	chr7	45932660	45932660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcaggggagaccccaaCtgccagatatattttaatgt	13	10	10	8	0	1	3	1	0	0	3	1	5	1	3	3	2	2	0	3	2	4	4	rs375166026		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:45932660C>T	ENST00000275525.3	+	4	1046	c.750C>T	c.(748-750)aaC>aaT	p.N250N	IGFBP1_ENST00000457280.1_Silent_p.N248N|IGFBP1_ENST00000468955.1_Silent_p.N207N	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	250	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						GAGACCCCAACTGCCAGATAT	0.433																																						uc003tnp.3																			0				large_intestine(2)|lung(4)	6						c.(748-750)aaC>aaT		Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.							59	60	60					7																	45932660		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45932660C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.750C>T	7.37:g.45932660C>T							p.N250N	NM_000596	NP_000587	P08833	IBP1_HUMAN			3	1043	+			250			Thyroglobulin type-1.		A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.750C>T	CCDS5504.1																																																																																				0.433	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		T	45932660	C	T	45932660	2	4	5	1	0	0	0	0	0	0	0	1	7578	564	20	3		3	IGFBP1	7	45932660	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		45932660	113206003	27	298											
PARP12	64761	broad.mit.edu	37	chr7	139726106	139726106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagctgccgctcgtcCacggccttccctccgttctg	4	10	10	17	4	1	0	0	0	1	0	5	1	4	1	5	2	3	3	5	2	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:139726106C>T	ENST00000263549.3	-	11	2544	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	557	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCGCTCGTCCACGGCCTTCC	0.572																																						uc003vvl.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1669-1671)gtG>gtA		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.							97	89	92					7																	139726106		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139726106C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1671G>A	7.37:g.139726106C>T						PARP12_uc010lnf.1_Non-coding_Transcript	p.V557V	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			10	2545	-	Melanoma(164;0.0142)		557			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.1671G>A	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.97|10.97	1.502202|1.502202	0.26949|0.26949	.|.	.|.	ENSG00000059378|ENSG00000059378	ENST00000489809|ENST00000484111	T|.	0.53423|.	0.62|.	4.77|4.77	1.09|1.09	0.20402|0.20402	.|.	.|.	.|.	.|.	.|.	T|.	0.57373|.	0.2049|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50423|.	-0.8830|.	6|.	0.44086|.	T|.	0.13|.	.|.	9.2965|9.2965	0.37819|0.37819	0.0:0.5808:0.0:0.4192|0.0:0.5808:0.0:0.4192	.|.	.|.	.|.	.|.	R|X	152|29	ENSP00000417606:G152R|.	ENSP00000417606:G152R|.	G|W	-|-	1|2	0|0	PARP12|PARP12	139372575|139372575	0.000000|0.000000	0.05858|0.05858	0.903000|0.903000	0.35520|0.35520	0.732000|0.732000	0.41865|0.41865	-0.644000|-0.644000	0.05415|0.05415	0.171000|0.171000	0.19730|0.19730	0.461000|0.461000	0.40582|0.40582	GGA|TGG		0.572	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139726106	C	T	139726106	2	4	5	1	0	0	0	0	0	0	0	1	11457	581	21	3		3	PARP12	7	139726106	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	93793446	139726106	19412557	28	299											
CNTNAP2	26047	broad.mit.edu	37	chr7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactctgtggtcattgagcGccaggggcggagcattaacc	8	8	14	11	2	2	1	1	1	1	0	2	2	2	2	2	4	3	2	2	4	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:146818164G>A	ENST00000361727.3	+	6	1364	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	283	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> C. {ECO:0000269|PubMed:18179895}.		adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(847-849)cGc>cAc		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							155	125	135					7																	146818164		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818164G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.848G>A	7.37:g.146818164G>A	ENSP00000354778:p.Arg283His	HNSCC(39;0.1)					p.R283H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		5	1364	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	283		R -> C.	Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.848G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648839	0.87958	.	.	ENSG00000174469	ENST00000361727	D	0.81821	-1.54	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000007	D	0.89491	0.6730	M	0.79123	2.44	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.87553	0.2466	10	0.34782	T	0.22	.	18.6867	0.91567	0.0:0.0:1.0:0.0	.	283	Q9UHC6	CNTP2_HUMAN	H	283	ENSP00000354778:R283H	ENSP00000354778:R283H	R	+	2	0	CNTNAP2	146449097	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	9.714000	0.98744	2.756000	0.94617	0.563000	0.77884	CGC		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146818164	G	A	146818164	3	1	5	1	0	0	0	0	1	0	0	0	3647	1087	38	1	870	1	CNTNAP2	7	146818164	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	7092058	146818164	12320499	29	300											
MLL3	58508	broad.mit.edu	37	chr7	151962124	151962124	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaatgaaaacttactTgcagttctggcacactttgc	13	13	7	8	0	1	2	0	2	1	0	1	2	1	2	0	1	4	3	0	1	5	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:151962124T>C	ENST00000262189.6	-	8	1401	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E	KMT2C_ENST00000355193.2_Splice_Site_p.K395E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	395					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAAACTTACTTGCAGTTCTGG	0.403																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.e8+1		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							169	158	162					7																	151962124		2203	4297	6500	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962124T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1184+1A>G	7.37:g.151962124T>C							p.K395_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1403	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	395					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1184_splice	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642328	0.67244	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87650	-2.28;-2.28	4.53	4.53	0.55603	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.150247	0.29486	U	0.012012	D	0.83862	0.5346	L	0.37800	1.135	0.80722	D	1	P	0.47253	0.892	P	0.45753	0.492	D	0.84060	0.0374	10	0.41790	T	0.15	.	14.1658	0.65475	0.0:0.0:0.0:1.0	.	395	Q8NEZ4	MLL3_HUMAN	E	395	ENSP00000262189:K395E;ENSP00000347325:K395E	ENSP00000262189:K395E	K	-	1	0	MLL3	151593057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	1.791000	0.52520	0.377000	0.23210	AAA		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation	C	151962124	T	C	151962124	5	2	5	1	0	0	0	0	0	0	1	0	9622	1826	63	4	13760	4	MLL3	7	151962124	Splice_Site	SNP	T	TCGA-02-2470-01A-01D-1494-08	5143960	151962124	7176539	30	301											
NEFM	4741	broad.mit.edu	37	chr8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagacatctcgacggCgctgaaggaaatccgctccc	12	5	11	13	4	1	3	0	1	1	2	4	6	3	4	2	2	0	2	2	2	3	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr8:24772112C>T	ENST00000221166.5	+	1	1588	c.806C>T	c.(805-807)gCg>gTg	p.A269V	NEFM_ENST00000437366.2_Missense_Mutation_p.A269V|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000518131.1_Missense_Mutation_p.A269V|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	269	Coil 2A.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.A269V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCGACGGCGCTGAAGGAA	0.592																																						uc003xed.4																			1	Substitution - Missense(1)	p.A269V(2)	endometrium(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(805-807)gCg>gTg		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.							123	103	110					8																	24772112		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772112C>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.806C>T	8.37:g.24772112C>T	ENSP00000221166:p.Ala269Val					NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	p.A269V	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	839	+		Prostate(55;0.157)	269			Coil 2A.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.806C>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826474	0.71143	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89343	-2.5;-2.5;-2.5	4.69	4.69	0.59074	Filament (1);	0.000000	0.43747	D	0.000531	D	0.92100	0.7496	L	0.41824	1.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93160	0.6557	10	0.72032	D	0.01	.	17.9719	0.89116	0.0:1.0:0.0:0.0	.	269;269	E7EMV2;P07197	.;NFM_HUMAN	V	269	ENSP00000221166:A269V;ENSP00000427872:A269V;ENSP00000410137:A269V	ENSP00000221166:A269V	A	+	2	0	NEFM	24828017	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	6.008000	0.70739	2.312000	0.78011	0.467000	0.42956	GCG		0.592	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		T	24772112	C	T	24772112	3	4	5	1	0	0	0	0	1	0	0	0	10316	768	27	1	808	1	NEFM	8	24772112	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		24772112	121591910	31	302											
CA9	768	broad.mit.edu	37	chr9	35674152	35674152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgggcgaggaggatctgCccagtgaagaggattcaccc	10	6	14	11	1	2	2	1	1	1	1	2	6	2	5	2	4	1	0	2	4	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35674152C>T	ENST00000378357.4	+	1	300	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	66	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGAGGATCTGCCCAGTGAAGA	0.592																																						uc003zxo.4																			0		p.L65L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(196-198)Ccc>Tcc		Homo sapiens carbonic anhydrase IX (CA9), mRNA.							55	54	55					9																	35674152		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35674152C>T	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.196C>T	9.37:g.35674152C>T	ENSP00000367608:p.Pro66Ser					C9orf100_uc003zxl.3_Non-coding_Transcript|CA9_uc003zxn.1_Non-coding_Transcript	p.P66S	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		0	238	+	all_epithelial(49;0.217)		66			Proteoglycan-like (PG).		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.196C>T	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859362	0.32884	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.72051	-0.62	5.01	-0.26	0.12967	.	.	.	.	.	T	0.54951	0.1890	N	0.25485	0.75	0.21020	N	0.99981	B;B	0.19331	0.035;0.02	B;B	0.16289	0.015;0.007	T	0.49624	-0.8920	9	0.87932	D	0	.	8.8487	0.35186	0.0:0.5493:0.0:0.4507	.	66;66	F5H404;Q16790	.;CAH9_HUMAN	S	66	ENSP00000367608:P66S	ENSP00000367608:P66S	P	+	1	0	CA9	35664152	0.002000	0.14202	0.464000	0.27143	0.598000	0.36846	0.245000	0.18142	0.054000	0.16065	-0.150000	0.13652	CCC		0.592	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		T	35674152	C	T	35674152	3	4	5	1	0	0	0	0	1	0	0	0	2524	739	26	3	198	3	CA9	9	35674152	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		35674152	105539279	32	303											
SPAG8	4882	broad.mit.edu	37	chr9	35810291	35810291	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcaggttgctcctGgcggtagtcgtgaggctgtg	5	11	17	8	2	1	1	1	1	1	0	4	2	2	1	1	5	1	4	1	5	2	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35810291G>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.Q406K|SPAG8_ENST00000484764.1_Intron|HINT2_ENST00000474908.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Missense_Mutation_p.Q406K	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGTTGCTCCTGGCGGTAGTCG	0.607																																						uc003zye.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1216-1218)Cag>Aag		Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.							169	166	167					9																	35810291		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35810291G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810291G>T						SPAG8_uc003zyg.3_Missense_Mutation_p.Q406K	p.Q406K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		5	1331	-	all_epithelial(49;0.161)		406					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1216C>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004178	0.02112	.	.	ENSG00000137098	ENST00000340291;ENST00000396638	T;T	0.29655	1.56;1.59	5.42	-3.71	0.04424	.	1.850590	0.02678	N	0.109307	T	0.20861	0.0502	N	0.25647	0.755	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.19516	-1.0303	10	0.18276	T	0.48	0.4799	9.3657	0.38223	0.1338:0.0:0.1931:0.673	.	406;406	E9PDV6;Q99932-2	.;.	K	406	ENSP00000340982:Q406K;ENSP00000379878:Q406K	ENSP00000340982:Q406K	Q	-	1	0	SPAG8	35800291	0.000000	0.05858	0.000000	0.03702	0.727000	0.41649	-0.059000	0.11731	-0.684000	0.05183	-0.150000	0.13652	CAG		0.607	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35810291	G	T	35810291	1	4	5	0	1	0	0	0	0	0	0	0	14984	1357	47	5		5	SPAG8	9	35810291	IGR	SNP	G	TCGA-02-2470-01A-01D-1494-08	136139	35810291	105403140	33	304											
MELK	9833	broad.mit.edu	37	chr9	36651764	36651764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagtatgatcacctcacgGctacctatcttctgcttcta	8	13	7	13	1	5	1	2	1	3	0	5	1	5	1	2	2	2	4	2	2	4	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:36651764G>T	ENST00000298048.2	+	12	1127	c.943G>T	c.(943-945)Gct>Tct	p.A315S	MELK_ENST00000536987.1_Missense_Mutation_p.A184S|MELK_ENST00000541717.1_Missense_Mutation_p.A315S|MELK_ENST00000536860.1_Missense_Mutation_p.A267S|MELK_ENST00000536329.1_Missense_Mutation_p.A244S|MELK_ENST00000538311.1_Missense_Mutation_p.A121S|MELK_ENST00000545008.1_Missense_Mutation_p.A244S|MELK_ENST00000543751.1_Missense_Mutation_p.A283S	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	315	UBA-like.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCACCTCACGGCTACCTATCT	0.403																																					Ovarian(82;980 1317 7225 14391 18624)	uc003zzn.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(943-945)Gct>Tct		Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.							238	235	236					9																	36651764		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36651764G>T	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.943G>T	9.37:g.36651764G>T	ENSP00000298048:p.Ala315Ser					MELK_uc011lpm.2_Missense_Mutation_p.A184S|MELK_uc011lpn.2_Missense_Mutation_p.A315S|MELK_uc011lpo.2_Missense_Mutation_p.A121S|MELK_uc010mll.3_Missense_Mutation_p.A283S|MELK_uc011lpp.2_Missense_Mutation_p.A267S|MELK_uc010mlm.3_Missense_Mutation_p.A244S|MELK_uc011lpr.2_Missense_Mutation_p.A244S|MELK_uc011lpq.2_Missense_Mutation_p.A121S|MELK_uc011lps.2_Missense_Mutation_p.A235S	p.A315S	NM_014791	NP_055606	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		11	1081	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	315					A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.943G>T	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631520	0.87660	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.76060	-0.78;-0.06;-0.15;0.39;-0.22;-0.99;-0.7;-0.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.997;0.999;0.968	D	0.85578	0.1238	10	0.56958	D	0.05	-12.9219	15.2097	0.73209	0.0:0.0:1.0:0.0	.	235;244;267;315;244;283;315	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	S	315;121;184;244;267;244;315;283	ENSP00000298048:A315S;ENSP00000438226:A121S;ENSP00000439184:A184S;ENSP00000445452:A244S;ENSP00000439792:A267S;ENSP00000443550:A244S;ENSP00000437804:A315S;ENSP00000441596:A283S	ENSP00000298048:A315S	A	+	1	0	MELK	36641764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.315000	0.65810	2.652000	0.90054	0.655000	0.94253	GCT		0.403	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		T	36651764	G	T	36651764	3	4	5	1	0	0	0	0	1	0	0	0	9470	1203	42	5	985	5	MELK	9	36651764	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	841473	36651764	104561667	34	305											
FAM75A1	642265	broad.mit.edu	37	chr9	39888189	39888189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaactcgaaacagctGcccggacctcagaagttctc	12	6	11	12	2	2	2	1	0	1	2	4	6	2	4	2	2	4	2	2	2	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:39888189G>T	ENST00000456183.2	+	4	1205	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	392					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGAAACAGCTGCCCGGACCTC	0.488																																						uc004abp.3																			0				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1174-1176)ctG>ctT		Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.							11	11	11					9																	39888189		1250	2674	3924	SO:0001819	synonymous_variant	642265					integral to membrane		g.chr9:39888189G>T			9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A2"	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.1176G>T	9.37:g.39888189G>T							p.L392L	NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	3	1205	+			392						Silent	SNP	ENST00000456183.2	37	c.1176G>T	CCDS43809.1																																																																																				0.488	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037739.1	NM_001040065		T	39888189	G	T	39888189	2	4	5	1	0	0	0	0	0	0	0	1	5619	1306	46	5		5	FAM75A1	9	39888189	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	3236425	39888189	101325242	35	306											
SH2D3C	10044	broad.mit.edu	37	chr9	130502108	130502108	+	Frame_Shift_Del	DEL	C	C	-																															tggtggggccgagtcacactCcagcagggtgatgaggggca																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:130502108delC	ENST00000314830.8	-	11	2373	c.2260delG	c.(2260-2262)gagfs	p.E754fs	SH2D3C_ENST00000373274.3_Frame_Shift_Del_p.E594fs|SH2D3C_ENST00000373276.3_Frame_Shift_Del_p.E686fs|SH2D3C_ENST00000429553.1_Frame_Shift_Del_p.E400fs|SH2D3C_ENST00000373277.4_Frame_Shift_Del_p.E597fs|SH2D3C_ENST00000420366.1_Frame_Shift_Del_p.E596fs	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	754	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGTCACACTCCAGCAGGGTG	0.657																																						uc004bsc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2260-2262)gagfs		Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.							21	18	19					9																	130502108		2200	4293	6493	SO:0001589	frameshift_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130502108delC	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2260delG	9.37:g.130502108delC	ENSP00000317817:p.Glu754fs					SH2D3C_uc010mxo.3_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.3_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.4_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.2_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsb.3_Frame_Shift_Del_p.E686fs|SH2D3C_uc004bsa.3_Frame_Shift_Del_p.E597fs	p.E754fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			10	2402	-			754			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Frame_Shift_Del	DEL	ENST00000314830.8	37	c.2260delG	CCDS6877.1																																																																																				0.657	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		-	130502108	C	-	130502108	7	5	5	1	0	1	0	1	0	0	0	0	14234	864	30	0	330	0	SH2D3C	9	130502108	Frame_Shift_Del	DEL	C	TCGA-02-2470-01A-01D-1494-08	90613919	130502108	10711323	36	307											
STAM	8027	broad.mit.edu	37	chr10	17735226	17735226	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttttttgttaggctgcAgaacaagcaaaagcaagccc	12	10	8	11	0	1	1	0	0	1	1	1	1	1	1	2	1	5	5	2	1	6	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:17735226A>G	ENST00000377524.3	+	6	665	c.450A>G	c.(448-450)gcA>gcG	p.A150A	STAM_ENST00000540523.1_Silent_p.A39A|RP11-390B4.3_ENST00000445235.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	150					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTAGGCTGCAGAACAAGCAA	0.408																																						uc001ipj.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(448-450)gcA>gcG		Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.							125	123	123					10																	17735226		2203	4300	6503	SO:0001819	synonymous_variant	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17735226A>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.450A>G	10.37:g.17735226A>G						STAM_uc010qcf.2_Silent_p.A39A|STAM_uc009xjw.2_5'Flank	p.A150A	NM_003473	NP_003464	Q92783	STAM1_HUMAN			5	665	+			150					B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	c.450A>G	CCDS7122.1																																																																																				0.408	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		G	17735226	A	G	17735226	2	3	5	1	0	0	0	0	0	0	0	1	15247	175	7	4		4	STAM	10	17735226	Silent	SNP	A	TCGA-02-2470-01A-01D-1494-08		17735226	117799521	37	308											
NEBL	10529	broad.mit.edu	37	chr10	21461321	21461321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatacttacgcattacaaTagggcttcttttcatagcct	12	14	5	10	1	2	0	1	0	1	0	2	0	2	0	1	1	4	2	1	1	7	8			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:21461321T>C	ENST00000417816.2	-	2	508	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	NEBL_ENST00000464278.1_5'UTR|NEBL-AS1_ENST00000439097.1_RNA|NEBL-AS1_ENST00000417845.1_RNA	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	97					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCATTACAATAGGGCTTCTT	0.438																																						uc001iqk.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(154-156)tAt>tGt		Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.							183	173	176					10																	21461321		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21461321T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.155A>G	10.37:g.21461321T>C	ENSP00000393896:p.Tyr52Cys					NEBL_uc021pnu.1_Missense_Mutation_p.Y52C	p.Y52C	NM_213569	NP_998734	O76041	NEBL_HUMAN			1	509	-			714					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	c.155A>G	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189486	0.57909	.	.	ENSG00000078114	ENST00000417816	D	0.91180	-2.8	5.54	4.4	0.53042	.	.	.	.	.	D	0.95230	0.8453	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.94951	0.8100	9	0.72032	D	0.01	.	11.2348	0.48933	0.0:0.0726:0.0:0.9274	.	52	Q70I54	.	C	52	ENSP00000393896:Y52C	ENSP00000393896:Y52C	Y	-	2	0	NEBL	21501327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	0.932000	0.37266	0.533000	0.62120	TAT		0.438	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		C	21461321	T	C	21461321	3	2	5	1	0	0	0	0	1	0	0	0	10303	1406	49	4	3370	4	NEBL	10	21461321	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	3726095	21461321	114073426	38	309											
SVIL	6840	broad.mit.edu	37	chr10	29839574	29839574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaaaggaggggctcCgggaggctgcctgctgcagg	7	5	18	11	1	1	0	1	0	0	0	2	2	2	2	3	7	3	4	3	7	1	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:29839574C>T	ENST00000355867.4	-	6	1531	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SVIL_ENST00000375400.3_Missense_Mutation_p.R260Q|SVIL_ENST00000375398.2_Missense_Mutation_p.R260Q	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	260					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAGGGGCTCCGGGAGGCTGC	0.612																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(778-780)cGg>cAg		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							32	36	34					10																	29839574		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29839574C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.779G>A	10.37:g.29839574C>T	ENSP00000348128:p.Arg260Gln					SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	p.R260Q	NM_021738	NP_068506	O95425	SVIL_HUMAN			5	1532	-		Breast(68;0.103)	260					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.779G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883795	0.17467	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.43688	0.94;0.94;0.94	5.51	2.68	0.31781	.	0.209121	0.33772	N	0.004566	T	0.22322	0.0538	N	0.22421	0.69	0.30593	N	0.76133	B;B	0.33345	0.319;0.409	B;B	0.23419	0.046;0.045	T	0.14783	-1.0460	9	.	.	.	-5.443	8.2375	0.31636	0.1483:0.1463:0.7055:0.0	.	260;260	O95425-2;O95425	.;SVIL_HUMAN	Q	260	ENSP00000364549:R260Q;ENSP00000364547:R260Q;ENSP00000348128:R260Q	.	R	-	2	0	SVIL	29879580	0.981000	0.34729	0.095000	0.20976	0.039000	0.13416	1.800000	0.38833	0.302000	0.22762	0.655000	0.94253	CGG		0.612	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29839574	C	T	29839574	3	4	5	1	0	0	0	0	1	0	0	0	15418	652	23	2	5997	2	SVIL	10	29839574	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	8378253	29839574	105695173	39	310											
KIAA1462	57608	broad.mit.edu	37	chr10	30315760	30315760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggctggttctgtcccGctctccggatgcccggcagg	4	8	14	15	3	2	0	0	0	2	0	4	1	3	1	3	5	2	5	3	5	0	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:30315760G>A	ENST00000375377.1	-	3	3418	c.3317C>T	c.(3316-3318)gCg>gTg	p.A1106V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1106					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTGTCCCGCTCTCCGGAT	0.637																																						uc009xle.2																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3316-3318)gCg>gTg		Homo sapiens KIAA1462 (KIAA1462), mRNA.							51	54	53					10																	30315760		1975	4164	6139	SO:0001583	missense	57608							g.chr10:30315760G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3317C>T	10.37:g.30315760G>A	ENSP00000364526:p.Ala1106Val					KIAA1462_uc001iux.3_Missense_Mutation_p.A1106V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A968V	p.A1106V	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3454	-			1106					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3317C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756888	0.15846	.	.	ENSG00000165757	ENST00000375377	T	0.11385	2.78	4.49	0.185	0.15096	.	1.741910	0.02492	N	0.089560	T	0.05777	0.0151	N	0.25647	0.755	0.09310	N	1	B	0.32893	0.389	B	0.22386	0.039	T	0.21314	-1.0249	10	0.06625	T	0.88	-0.0167	3.1123	0.06363	0.2234:0.1313:0.5124:0.1329	.	1106	Q9P266	K1462_HUMAN	V	1106	ENSP00000364526:A1106V	ENSP00000364526:A1106V	A	-	2	0	KIAA1462	30355766	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.326000	0.02685	-0.143000	0.11334	-1.598000	0.00824	GCG		0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30315760	G	A	30315760	3	1	5	1	0	0	0	0	1	0	0	0	8234	1087	38	1	770	1	KIAA1462	10	30315760	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	476186	30315760	105218987	40	311											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							155	133	141					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717672	C	T	89717672	4	4	5	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	59401912	89717672	45817075	41	312											
ANO3	63982	broad.mit.edu	37	chr11	26569054	26569054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaattgttggtttgtgcGttttcttctatggattattt	6	21	9	5	1	2	0	0	0	2	0	2	1	2	1	0	2	2	4	0	2	3	9	rs566590577		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:26569054G>A	ENST00000256737.3	+	12	2098	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	ANO3_ENST00000537978.1_Missense_Mutation_p.V400I|ANO3_ENST00000525139.1_Missense_Mutation_p.V400I|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.V270I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	416					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTTTGTGCGTTTTCTTCTA	0.373													G|||	1	0.000199681	0	0	5008	,	,		17574	0		0	False		,,,				2504	0.001					uc001mqt.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1246-1248)Gtt>Att		Homo sapiens anoctamin 3 (ANO3), mRNA.							310	279	290					11																	26569054		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26569054G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1246G>A	11.37:g.26569054G>A	ENSP00000256737:p.Val416Ile					ANO3_uc010rdr.2_Missense_Mutation_p.V400I|ANO3_uc010rds.2_Missense_Mutation_p.V255I|ANO3_uc010rdt.2_Missense_Mutation_p.V270I	p.V416I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			11	1391	+			416					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1246G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122042	0.94429	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.957	T	0.77335	-0.2626	10	0.54805	T	0.06	.	19.5765	0.95446	0.0:0.0:1.0:0.0	.	318;416	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	400;400;416;318;270	ENSP00000440737:V400I;ENSP00000432576:V400I;ENSP00000256737:V416I;ENSP00000432394:V270I	ENSP00000256737:V416I	V	+	1	0	ANO3	26525630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.781000	0.99029	2.617000	0.88574	0.585000	0.79938	GTT		0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		A	26569054	G	A	26569054	3	1	5	1	0	0	0	0	1	0	0	0	698	1145	40	1	1292	1	ANO3	11	26569054	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		26569054	108437462	42	313											
OR5D13	390142	broad.mit.edu	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	11	8	10	12	2	2	2	0	0	2	2	3	3	2	2	3	1	3	1	3	1	3	1	rs369729738		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						uc010ril.2																			0		p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(706-708)Cgc>Tgc		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.		C	CYS/ARG	0,4400		0,0,2200	134	119	124		706	-7.6	0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	706	+		all_epithelial(135;0.196)	236		R -> L (in dbSNP:rs7124871).			Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		T	55541619	C	T	55541619	3	4	5	1	0	0	0	0	1	0	0	0	11154	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	28972565	55541619	79464897	43	314											
OR10V1	390201	broad.mit.edu	37	chr11	59481032	59481032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgggtgccacatcccGtgatggaaacaggagttttg	10	10	12	9	1	1	1	0	1	1	0	2	3	2	3	2	3	2	1	2	3	1	2	rs144835634		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:59481032G>A	ENST00000307552.2	-	1	305	c.287C>T	c.(286-288)aCg>aTg	p.T96M	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCACATCCCGTGATGGAAAC	0.473																																						uc001nof.1																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(286-288)aCg>aTg		Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.		G	MET/THR	1,4401	2.1+/-5.4	0,1,2200	72	67	68		287	0.3	0.1	11	dbSNP_134	68	0,8590		0,0,4295	no	missense	OR10V1	NM_001005324.1	81	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	96/310	59481032	1,12991	2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59481032G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.287C>T	11.37:g.59481032G>A	ENSP00000302199:p.Thr96Met						p.T96M	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			0	287	-			96					Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.287C>T	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373860	0.24857	2.27E-4	0.0	ENSG00000172289	ENST00000307552	T	0.00402	7.56	4.36	0.332	0.15938	GPCR, rhodopsin-like superfamily (1);	0.809497	0.10910	N	0.620657	T	0.00271	0.0008	N	0.20483	0.58	0.09310	N	0.999999	D	0.54207	0.965	B	0.44224	0.444	T	0.56661	-0.7942	10	0.49607	T	0.09	.	8.3794	0.32461	0.3461:0.0:0.6539:0.0	.	96	Q8NGI7	O10V1_HUMAN	M	96	ENSP00000302199:T96M	ENSP00000302199:T96M	T	-	2	0	OR10V1	59237608	0.000000	0.05858	0.052000	0.19188	0.851000	0.48451	0.007000	0.13174	-0.009000	0.14296	-0.270000	0.10280	ACG		0.473	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		A	59481032	G	A	59481032	3	1	5	1	0	0	0	0	1	0	0	0	10920	1145	40	1	646	1	OR10V1	11	59481032	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	3939413	59481032	75525484	44	315											
CAPN1	823	broad.mit.edu	37	chr11	64953733	64953733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgagtggtacgagttgcGcaaggctcccagtgacctct	8	9	12	12	3	1	1	0	1	1	0	2	3	2	1	3	2	3	4	3	2	3	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:64953733G>A	ENST00000527323.1	+	5	923	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CAPN1_ENST00000533129.1_Missense_Mutation_p.R228H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R228H|CAPN1_ENST00000279247.6_Missense_Mutation_p.R228H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R228H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	228	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R228H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TACGAGTTGCGCAAGGCTCCC	0.637																																						uc009yqd.2																			1	Substitution - Missense(1)	p.R228H(2)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(682-684)cGc>cAc		Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.							39	45	43					11																	64953733		2001	4160	6161	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64953733G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.683G>A	11.37:g.64953733G>A	ENSP00000431984:p.Arg228His					CAPN1_uc001odf.2_Missense_Mutation_p.R228H|CAPN1_uc001odg.2_Missense_Mutation_p.R228H|CAPN1_uc010roa.2_5'UTR	p.R228H	NM_001198868	NP_001185797	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	5	880	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	228			Calpain catalytic.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.683G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708746	0.30322	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	4.53	2.63	0.31362	Peptidase C2, calpain, catalytic domain (3);	0.479915	0.19439	N	0.114239	D	0.87120	0.6098	M	0.65498	2.005	0.23754	N	0.996932	B	0.33883	0.43	B	0.39531	0.302	T	0.79983	-0.1573	10	0.87932	D	0	.	6.1585	0.20350	0.3291:0.0:0.6709:0.0	.	228	P07384	CAN1_HUMAN	H	228;228;228;228;174;228;123	ENSP00000435272:R228H;ENSP00000431686:R228H;ENSP00000434176:R228H;ENSP00000279247:R228H;ENSP00000431984:R228H;ENSP00000433366:R123H	ENSP00000259755:R174H	R	+	2	0	CAPN1	64710309	0.000000	0.05858	0.543000	0.28128	0.210000	0.24377	0.498000	0.22530	0.353000	0.24079	0.563000	0.77884	CGC		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			A	64953733	G	A	64953733	3	1	5	1	0	0	0	0	1	0	0	0	2622	1087	38	1	701	1	CAPN1	11	64953733	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	5472701	64953733	70052783	45	316											
TMEM123	114908	broad.mit.edu	37	chr11	102272678	102272678	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcagcagatgtcactgaActattgtgggttacggtcat	11	11	12	7	1	2	2	2	1	0	1	2	3	2	2	0	2	4	3	0	2	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:102272678A>G	ENST00000398136.2	-	3	837	c.417T>C	c.(415-417)agT>agC	p.S139S	TMEM123_ENST00000361236.3_Silent_p.S120S|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Silent_p.S51S	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	139	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		ATGTCACTGAACTATTGTGGG	0.363																																						uc001pha.3																			0				breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(415-417)agT>agC		Homo sapiens transmembrane protein 123 (TMEM123), mRNA.							364	332	342					11																	102272678		1976	4160	6136	SO:0001819	synonymous_variant	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272678A>G	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"pro oncosis receptor inducing membrane injury gene"	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.417T>C	11.37:g.102272678A>G						TMEM123_uc009yxc.3_Silent_p.S120S	p.S139S	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	2	838	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	139			Thr-rich.		Q8IWS2|Q96QV2	Silent	SNP	ENST00000398136.2	37	c.417T>C	CCDS41702.1																																																																																				0.363	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		G	102272678	A	G	102272678	2	3	5	1	0	0	0	0	0	0	0	1	16033	40	2	4		4	TMEM123	11	102272678	Silent	SNP	A	TCGA-02-2470-01A-01D-1494-08	37318945	102272678	32733838	46	317											
RAPGEF3	10411	broad.mit.edu	37	chr12	48143197	48143197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatacggttgaagtcctgCttgtccacacgcaggaaatg	11	10	11	9	2	0	2	0	2	0	0	2	3	2	3	2	2	2	3	2	2	3	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:48143197C>A	ENST00000449771.2	-	10	1105	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	RAPGEF3_ENST00000548919.1_Missense_Mutation_p.K297N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.K297N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.K339N|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.K339N|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.K297N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.K297N			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	339					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGAAGTCCTGCTTGTCCACAC	0.562																																						uc001rpz.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(1015-1017)aaG>aaT		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.							118	108	111					12																	48143197		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48143197C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1017G>T	12.37:g.48143197C>A	ENSP00000395708:p.Lys339Asn					RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.K297N|RAPGEF3_uc009zkq.3_Missense_Mutation_p.K297N|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	p.K339N	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	9	1567	-	Lung SC(27;0.192)		297					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.1017G>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578608	0.65878	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	4.28	3.39	0.38822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.996	D;P;D	0.80764	0.994;0.872;0.938	D	0.91623	0.5312	10	0.87932	D	0	.	11.0257	0.47743	0.0:0.9078:0.0:0.0922	.	351;339;339	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	N	297;339;297;297;297;339;351;297;339	ENSP00000384521:K297N;ENSP00000395708:K339N;ENSP00000448619:K297N;ENSP00000171000:K297N;ENSP00000373864:K339N;ENSP00000448480:K297N;ENSP00000378764:K339N	ENSP00000171000:K297N	K	-	3	2	RAPGEF3	46429464	0.993000	0.37304	1.000000	0.80357	0.949000	0.60115	0.310000	0.19356	1.169000	0.42739	0.650000	0.86243	AAG		0.562	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		A	48143197	C	A	48143197	3	1	5	1	0	0	0	0	1	0	0	0	13045	796	28	5	1830	5	RAPGEF3	12	48143197	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		48143197	85708698	47	318											
SRRM4	84530	broad.mit.edu	37	chr12	119588965	119588965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagtcactcgtcccgatCcccaaatcccagggcttccc	7	8	6	20	2	1	0	1	0	0	0	7	1	6	0	6	1	0	1	6	1	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:119588965C>G	ENST00000267260.4	+	10	1608	c.1220C>G	c.(1219-1221)tCc>tGc	p.S407C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	407	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCGTCCCGATCCCCAAATCCC	0.572																																						uc001txa.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1219-1221)tCc>tGc		Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.							79	83	81					12																	119588965		1954	4142	6096	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119588965C>G	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1220C>G	12.37:g.119588965C>G	ENSP00000267260:p.Ser407Cys						p.S407C	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			9	1608	+			407			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1220C>G	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120034	0.77323	.	.	ENSG00000139767	ENST00000267260	T	0.31510	1.49	5.58	5.58	0.84498	.	0.199391	0.43416	D	0.000575	T	0.49983	0.1589	L	0.52573	1.65	0.40843	D	0.983687	D	0.89917	1.0	D	0.69479	0.964	T	0.34453	-0.9828	9	.	.	.	-10.0095	18.1275	0.89590	0.0:1.0:0.0:0.0	.	407	A7MD48	SRRM4_HUMAN	C	407	ENSP00000267260:S407C	.	S	+	2	0	SRRM4	118073348	0.988000	0.35896	0.994000	0.49952	0.969000	0.65631	4.920000	0.63390	2.774000	0.95407	0.655000	0.94253	TCC		0.572	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		G	119588965	C	G	119588965	3	3	5	1	0	0	0	0	1	0	0	0	15170	855	30	5	1258	5	SRRM4	12	119588965	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	71445768	119588965	14262930	48	319											
RIMBP2	23504	broad.mit.edu	37	chr12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagaagtctggagaaaggCggtctcgcccgtaatcgtct	10	9	12	10	4	3	2	0	0	3	2	5	3	3	2	1	3	0	1	1	3	4	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:130898833C>T	ENST00000261655.4	-	14	2652	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	830					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2488-2490)cGc>cAc		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							60	68	65					12																	130898833		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898833C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2489G>A	12.37:g.130898833C>T	ENSP00000261655:p.Arg830His						p.R830H	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	13	2705	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	830					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2489G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174325	0.21704	.	.	ENSG00000060709	ENST00000261655	T	0.21191	2.02	4.49	1.61	0.23674	.	0.463790	0.20860	N	0.084374	T	0.09247	0.0228	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.26121	-1.0112	10	0.16420	T	0.52	-7.1662	8.0071	0.30332	0.0:0.5343:0.0:0.4657	.	830	O15034	RIMB2_HUMAN	H	830	ENSP00000261655:R830H	ENSP00000261655:R830H	R	-	2	0	RIMBP2	129464786	0.011000	0.17503	0.469000	0.27204	0.517000	0.34286	0.136000	0.15974	0.093000	0.17368	0.650000	0.86243	CGC		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130898833	C	T	130898833	3	4	5	1	0	0	0	0	1	0	0	0	13363	768	27	1	693	1	RIMBP2	12	130898833	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	11309868	130898833	2953062	49	320											
FGF14	2259	broad.mit.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	5	12	10	14	2	1	0	1	0	0	0	2	1	1	1	3	3	2	2	3	3	1	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																						uc001vpf.2																			2	Substitution - Missense(2)	p.T229M(2)|p.T224M(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(685-687)aCg>aTg		Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.							267	201	224					13																	102375254		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375254G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met					FGF14_uc001vpe.2_Missense_Mutation_p.T224M	p.T229M	NM_175929	NP_787125	Q92915	FGF14_HUMAN			4	782	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		224					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.686C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			A	102375254	G	A	102375254	3	1	5	1	0	0	0	0	1	0	0	0	5843	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		102375254	12794624	50	321											
C14orf39	317761	broad.mit.edu	37	chr14	60951623	60951623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattctttgaatcatctcttCtttagtacttatgtcttgct	8	21	4	8	0	5	1	1	1	4	0	6	1	5	1	0	0	2	2	0	0	5	8			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:60951623C>T	ENST00000321731.3	-	3	241	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	28					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATCATCTCTTCTTTAGTACTT	0.264																																						uc001xez.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(82-84)Gaa>Aaa		Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.							78	85	83					14																	60951623		2201	4293	6494	SO:0001583	missense	317761							g.chr14:60951623C>T	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.82G>A	14.37:g.60951623C>T	ENSP00000324920:p.Glu28Lys					C14orf39_uc010apo.3_5'UTR	p.E28K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	2	192	-			28					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.82G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131345	0.77549	.	.	ENSG00000179008	ENST00000321731;ENST00000556799	T	0.30981	1.51	4.98	4.98	0.66077	.	0.088643	0.48767	D	0.000172	T	0.37517	0.1006	L	0.59436	1.845	0.38292	D	0.942731	P	0.50272	0.933	P	0.46452	0.517	T	0.44159	-0.9346	10	0.72032	D	0.01	-4.2083	14.1128	0.65134	0.0:1.0:0.0:0.0	.	28	Q8N1H7	S6OS1_HUMAN	K	28	ENSP00000324920:E28K	ENSP00000324920:E28K	E	-	1	0	C14orf39	60021376	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.838000	0.55828	2.480000	0.83734	0.655000	0.94253	GAA		0.264	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		T	60951623	C	T	60951623	3	4	5	1	0	0	0	0	1	0	0	0	1772	922	32	3	1745	3	C14orf39	14	60951623	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		60951623	46397917	51	322											
DLK1	8788	broad.mit.edu	37	chr14	101201218	101201218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcagcaaggaggccggCgacgaggagatctaagcagc	12	4	14	11	3	2	1	1	0	1	1	2	5	2	2	2	4	3	2	2	4	2	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:101201218C>T	ENST00000341267.4	+	5	1379	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	DLK1_ENST00000331224.6_Silent_p.G306G|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	379					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGAGGCCGGCGACGAGGAGA	0.552																																						uc001yhs.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(1135-1137)ggC>ggT		Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.							86	87	87					14																	101201218		2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201218C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1137C>T	14.37:g.101201218C>T						DLK1_uc001yhu.4_Silent_p.G306G|DLK1_uc021sbs.1_Silent_p.G91G	p.G379G	NM_003836	NP_003827	P80370	DLK1_HUMAN			4	1341	+		Melanoma(154;0.155)	379					P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.1137C>T	CCDS9963.1																																																																																				0.552	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			T	101201218	C	T	101201218	2	4	5	1	0	0	0	0	0	0	0	1	4564	755	27	1		1	DLK1	14	101201218	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	40249595	101201218	6148322	52	323											
TDRD9	122402	broad.mit.edu	37	chr14	104508512	104508512	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaagacattgcccgtcAgaagcttttagggtaagctg	10	11	11	9	1	2	2	2	0	0	2	2	2	2	2	1	1	3	4	1	1	4	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:104508512A>C	ENST00000409874.4	+	34	4010	c.3962A>C	c.(3961-3963)cAg>cCg	p.Q1321P	TDRD9_ENST00000339063.5_Missense_Mutation_p.Q1130P	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1321					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCCCGTCAGAAGCTTTTA	0.478																																						uc001yom.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(3961-3963)cAg>cCg		Homo sapiens tudor domain containing 9 (TDRD9), mRNA.							101	93	96					14																	104508512		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104508512A>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3962A>C	14.37:g.104508512A>C	ENSP00000387303:p.Gln1321Pro					TDRD9_uc001yon.4_Missense_Mutation_p.Q868P	p.Q1321P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			33	3992	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	1321					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.3962A>C	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	A	7.635	0.679617	0.14907	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.04015	3.85;3.73	4.5	2.06	0.26882	.	0.280957	0.24518	U	0.037835	T	0.07548	0.0190	M	0.62723	1.935	0.21782	N	0.999543	B;P	0.49559	0.232;0.925	B;P	0.44860	0.126;0.462	T	0.16778	-1.0391	10	0.72032	D	0.01	.	8.0232	0.30421	0.8229:0.0:0.1771:0.0	.	1130;1321	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	P	1321;1130	ENSP00000387303:Q1321P;ENSP00000343545:Q1130P	ENSP00000343545:Q1130P	Q	+	2	0	TDRD9	103578265	1.000000	0.71417	0.766000	0.31476	0.121000	0.20230	3.574000	0.53863	0.196000	0.20367	0.533000	0.62120	CAG		0.478	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		C	104508512	A	C	104508512	3	2	5	1	0	0	0	0	1	0	0	0	15733	188	7	5	4096	5	TDRD9	14	104508512	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	3307294	104508512	2841028	53	324											
TGM5	9333	broad.mit.edu	37	chr15	43552356	43552356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggtaccgacccacggcCgccgtgggaggagcgcacaa	11	2	15	13	5	0	1	0	0	0	1	0	4	0	3	4	4	2	2	4	4	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:43552356C>T	ENST00000220420.5	-	3	337	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	110					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A110A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GACCCACGGCCGCCGTGGGAG	0.617																																						uc001zrd.2																			1	Substitution - coding silent(1)	p.A110A(2)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(328-330)gcG>gcA		Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	L-Glutamine(DB00130)						55	64	61					15																	43552356		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552356C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.330G>A	15.37:g.43552356C>T						TGM5_uc001zre.2_Intron	p.A110A	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	338	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	110					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.330G>A	CCDS32212.1																																																																																				0.617	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		T	43552356	C	T	43552356	2	4	5	1	0	0	0	0	0	0	0	1	15830	639	23	2		2	TGM5	15	43552356	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		43552356	58979036	54	325											
DET1	55070	broad.mit.edu	37	chr15	89056199	89056199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctacgtgcagcagtgtcGcatatggaagttgacaacat	12	9	10	10	2	0	1	0	1	0	0	1	2	0	2	1	1	4	4	1	1	4	3	rs182003477		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89056199G>A	ENST00000268148.8	-	5	1781	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	DET1_ENST00000564406.1_Nonsense_Mutation_p.R557*|RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000444300.1_Nonsense_Mutation_p.R557*	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	546						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCAGTGTCGCATATGGAAG	0.498													G|||	1	0.000199681	0	0	5008	,	,		20527	0		0.001	False		,,,				2504	0					uc002bmq.2																			0		p.R557Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1669-1671)Cga>Tga		Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.							97	94	95					15																	89056199		2016	4175	6191	SO:0001587	stop_gained	55070					nucleus		g.chr15:89056199G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1636C>T	15.37:g.89056199G>A	ENSP00000268148:p.Arg546*					DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Nonsense_Mutation_p.R546*|DET1_uc010bnk.2_Non-coding_Transcript	p.R557*	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		5	1858	-	Lung NSC(78;0.105)|all_lung(78;0.182)		546					B3KNN6|Q2VPC0|Q9NWD5	Nonsense_Mutation	SNP	ENST00000268148.8	37	c.1669C>T	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	38	6.944445	0.97952	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1642	6.1081	0.20086	0.1425:0.0:0.5:0.3575	.	.	.	.	X	557;546	.	ENSP00000268148:R546X	R	-	1	2	DET1	86857203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.196000	0.58407	0.895000	0.36342	0.655000	0.94253	CGA		0.498	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		A	89056199	G	A	89056199	4	1	5	1	0	0	0	0	0	1	0	0	4450	1095	38	1	20	1	DET1	15	89056199	Nonsense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	45503843	89056199	13475193	55	326											
DET1	55070	broad.mit.edu	37	chr15	89073948	89073948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctgcattttccacattCgcagctgccgcagttggtca	8	11	10	12	2	1	0	1	0	0	0	3	1	2	0	2	1	4	6	2	1	1	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89073948C>T	ENST00000268148.8	-	2	1134	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	DET1_ENST00000564406.1_Missense_Mutation_p.R341Q|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R341Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	330						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTTCCACATTCGCAGCTGCCG	0.493																																						uc002bmq.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1021-1023)cGa>cAa		Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.							44	47	46					15																	89073948		1938	4121	6059	SO:0001583	missense	55070					nucleus		g.chr15:89073948C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.989G>A	15.37:g.89073948C>T	ENSP00000268148:p.Arg330Gln					DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.R330Q|DET1_uc010bnk.2_Non-coding_Transcript	p.R341Q	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	1211	-	Lung NSC(78;0.105)|all_lung(78;0.182)		330					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1022G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231908	0.79688	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	5.65	0.86999	.	0.047665	0.85682	D	0.000000	T	0.78013	0.4217	M	0.76328	2.33	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.63793	0.891;0.918	T	0.75508	-0.3293	9	0.39692	T	0.17	-36.1997	18.891	0.92403	0.0:1.0:0.0:0.0	.	330;341	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	341;330	.	ENSP00000268148:R330Q	R	-	2	0	DET1	86874952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.045000	0.76585	2.941000	0.99782	0.655000	0.94253	CGA		0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		T	89073948	C	T	89073948	3	4	5	1	0	0	0	0	1	0	0	0	4450	884	31	2	679	2	DET1	15	89073948	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	17749	89073948	13457444	56	327											
ITGAX	3687	broad.mit.edu	37	chr16	31368588	31368588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcctgcggccccacCgtgcaccacgagtgcgggag	6	3	14	18	4	0	0	0	0	0	0	0	2	0	1	7	3	3	1	7	3	0	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:31368588C>T	ENST00000268296.4	+	5	454	c.333C>T	c.(331-333)acC>acT	p.T111T	ITGAX_ENST00000562522.1_Silent_p.T111T|ITGAX_ENST00000562918.1_Intron	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	111					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCGGCCCCACCGTGCACCACG	0.687																																						uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(331-333)acC>acT		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.																																				SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31368588C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.333C>T	16.37:g.31368588C>T						ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebu.1_Silent_p.T111T	p.T111T	NM_000887	NP_000878	P20702	ITAX_HUMAN			4	400	+			111					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.333C>T	CCDS10711.1																																																																																				0.687	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31368588	C	T	31368588	2	4	5	1	0	0	0	0	0	0	0	1	7889	639	23	2		2	ITGAX	16	31368588	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		31368588	58986165	57	328											
CCDC135	84229	broad.mit.edu	37	chr16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggacgtggcagagcgcGtgtttctggtcgcggaggag	7	7	20	7	5	1	1	0	0	1	1	2	5	1	5	0	6	1	2	0	6	0	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:57760043G>A	ENST00000360716.3	+	14	2043	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	CCDC135_ENST00000394337.4_Missense_Mutation_p.V608M|CCDC135_ENST00000336825.8_Missense_Mutation_p.V543M			Q8IY82	CC135_HUMAN		608					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCAGAGCGCGTGTTTCTGGT	0.627																																						uc002emi.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1822-1824)Gtg>Atg		Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.							55	47	50					16																	57760043		2198	4299	6497	SO:0001583	missense	84229					cytoplasm		g.chr16:57760043G>A																												ENST00000360716.3:c.1822G>A	16.37:g.57760043G>A	ENSP00000353942:p.Val608Met					CCDC135_uc002emj.3_Missense_Mutation_p.V608M|CCDC135_uc002emk.3_Missense_Mutation_p.V543M	p.V608M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			12	1911	+			608					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1822G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	9.276	1.046944	0.19748	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11063	2.99;2.81;2.99	4.87	-0.0454	0.13851	.	0.710719	0.13394	N	0.391176	T	0.14485	0.0350	L	0.60455	1.87	0.09310	N	0.999994	D;D	0.61697	0.989;0.99	P;P	0.50136	0.606;0.632	T	0.12451	-1.0547	10	0.59425	D	0.04	-24.2572	5.5075	0.16862	0.3357:0.0:0.5277:0.1366	.	543;608	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	608;543;608	ENSP00000377869:V608M;ENSP00000338938:V543M;ENSP00000353942:V608M	ENSP00000338938:V543M	V	+	1	0	CCDC135	56317544	0.176000	0.23096	0.378000	0.26068	0.076000	0.17211	0.683000	0.25349	0.118000	0.18165	0.655000	0.94253	GTG		0.627	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57760043	G	A	57760043	3	1	5	1	0	0	0	0	1	0	0	0	2769	1145	40	1	1868	1	CCDC135	16	57760043	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	26391455	57760043	32594710	58	329											
DLG4	37	broad.mit.edu	37	chr17	7121951	7121951	+	5'Flank	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggagccagagggctgaCctgggagctagtgagatgca	10	5	17	9	0	0	3	0	2	0	2	0	6	0	5	3	3	3	3	3	3	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:7121951C>G	ENST00000356839.5	+	0	0				DLG4_ENST00000399510.2_Missense_Mutation_p.R9S|DLG4_ENST00000399506.2_5'Flank|DLG4_ENST00000485100.1_5'Flank|ACADVL_ENST00000350303.5_5'Flank|DLG4_ENST00000302955.6_5'Flank|ACADVL_ENST00000543245.2_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGAGGGCTGACCTGGGAGCTA	0.592																																						uc002get.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(25-27)agG>agC		Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 1, mRNA.							22	30	27					17																	7121951		2103	4204	6307	SO:0001631	upstream_gene_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7121951C>G	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157		17.37:g.7121951C>G	Exception_encountered					DLG4_uc010cly.3_5'Flank|DLG4_uc010vto.2_Missense_Mutation_p.R9S|DLG4_uc002geu.3_5'Flank|ACADVL_uc010vtp.2_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.3_5'Flank|ACADVL_uc002gew.3_5'Flank|ACADVL_uc002gex.3_5'Flank	p.R9S	NM_001365	NP_001356	P78352	DLG4_HUMAN			1	1228	-			0					B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.27G>C	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775895	0.49786	.	.	ENSG00000132535	ENST00000399510;ENST00000293813;ENST00000539674	T	0.13307	2.6	4.96	1.81	0.25067	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.80722	D	1	B;P	0.37500	0.0;0.597	B;P	0.55345	0.0;0.774	T	0.24190	-1.0167	9	0.87932	D	0	.	4.5702	0.12207	0.1754:0.6373:0.0:0.1873	.	9;9	B9EGL1;P78352-2	.;.	S	9	ENSP00000382428:R9S	ENSP00000293813:R9S	R	-	3	2	DLG4	7062675	0.895000	0.30542	1.000000	0.80357	0.957000	0.61999	-0.038000	0.12144	0.679000	0.31345	0.549000	0.68633	AGG		0.592	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		G	7121951	C	G	7121951	1	3	5	0	1	0	0	0	0	0	0	0	4557	506	18	5		5	DLG4	17	7121951	5'Flank	SNP	C	TCGA-02-2470-01A-01D-1494-08		7121951	74073259	59	330											
C17orf102	400591	broad.mit.edu	37	chr17	32905952	32905952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagcaacagaataaatagGtttcccacagctgcgccccg	12	6	8	15	2	0	1	0	0	0	1	1	1	1	1	4	1	4	3	4	1	5	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:32905952G>T	ENST00000357754.1	-	1	436	c.348C>A	c.(346-348)aaC>aaA	p.N116K	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	116										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAATAAATAGGTTTCCCACAG	0.607																																						uc002hie.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(346-348)aaC>aaA		Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.							120	129	126					17																	32905952		1905	4116	6021	SO:0001583	missense	400591							g.chr17:32905952G>T		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.348C>A	17.37:g.32905952G>T	ENSP00000350392:p.Asn116Lys					TMEM132E_uc002hif.3_5'Flank	p.N116K	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN			0	437	-			116					A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.348C>A	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	g	5.249	0.231356	0.09969	.	.	ENSG00000197322	ENST00000357754	T	0.36699	1.24	3.4	-1.88	0.07713	.	4.094370	0.00725	N	0.000907	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25082	-1.0142	10	0.87932	D	0	.	1.6498	0.02769	0.1573:0.1223:0.4216:0.2988	.	116	A2RUQ5	CQ102_HUMAN	K	116	ENSP00000350392:N116K	ENSP00000350392:N116K	N	-	3	2	C17orf102	29930065	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.247000	0.02893	-0.158000	0.11040	-0.739000	0.03532	AAC		0.607	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		T	32905952	G	T	32905952	3	4	5	1	0	0	0	0	1	0	0	0	1849	1252	44	5	163	5	C17orf102	17	32905952	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	25784001	32905952	48289258	60	331											
GGNBP2	79893	broad.mit.edu	37	chr17	34943625	34943625	+	Frame_Shift_Del	DEL	T	T	-																															ttgcagaacctacagaaacgTtgtttggtcccgattccgga																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:34943625delT	ENST00000304718.4	+	13	2156	c.1840delT	c.(1840-1842)ttgfs	p.L614fs		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	614					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGAAACGTTGTTTGGTCC	0.463																																						uc002hnb.3																			0		p.T613T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(1840-1842)ttgfs		Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.							212	202	205					17																	34943625		2203	4300	6503	SO:0001589	frameshift_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34943625delT	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1840delT	17.37:g.34943625delT	ENSP00000307617:p.Leu614fs						p.L614fs	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	12	2156	+		Breast(25;0.00957)|Ovarian(249;0.17)	614					B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Del	DEL	ENST00000304718.4	37	c.1840delT	CCDS11314.1																																																																																				0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		-	34943625	T	-	34943625	7	5	5	1	0	1	0	1	0	0	0	0	6359	1722	60	0	1886	0	GGNBP2	17	34943625	Frame_Shift_Del	DEL	T	TCGA-02-2470-01A-01D-1494-08	2037673	34943625	46251585	61	332											
C17orf71	55181	broad.mit.edu	37	chr17	57292254	57292254	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcctttgggttttgagatTtccttatgcatatgtgactg	6	18	11	6	0	0	2	0	2	0	1	1	3	1	2	2	2	1	2	2	2	2	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:57292254T>G	ENST00000543872.2	+	5	3131	c.2867T>G	c.(2866-2868)tTt>tGt	p.F956C	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.F75C|SMG8_ENST00000300917.5_Missense_Mutation_p.F956C			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	956					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTTTTGAGATTTCCTTATGCA	0.473																																						uc002ixi.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2866-2868)tTt>tGt		Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.							135	120	125					17																	57292254		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57292254T>G	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2867T>G	17.37:g.57292254T>G	ENSP00000438748:p.Phe956Cys						p.F956C	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			3	2909	+			956					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2867T>G	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240529	0.79912	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.50277	0.75;0.75	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.68187	-0.5475	10	0.72032	D	0.01	-17.5195	15.2021	0.73147	0.0:0.0:0.0:1.0	.	956	Q8ND04	SMG8_HUMAN	C	956	ENSP00000300917:F956C;ENSP00000438748:F956C	ENSP00000300917:F956C	F	+	2	0	SMG8	54647036	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.471000	0.80985	2.186000	0.69663	0.459000	0.35465	TTT		0.473	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		G	57292254	T	G	57292254	3	3	5	1	0	0	0	0	1	0	0	0	1878	1841	64	5	2881	5	C17orf71	17	57292254	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	22348629	57292254	23902956	62	333											
CTAGE1	64693	broad.mit.edu	37	chr18	19995570	19995570	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggggaaaaatgcaggTcttgggggacggtaaggaag	11	6	20	4	1	1	0	0	0	1	0	1	3	1	3	0	8	1	3	0	8	4	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:19995570T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R735S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATGCAGGTCTTGGGGGAC	0.483																																						uc002ktv.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(2203-2205)agA>agT		Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							27	31	29					18																	19995570		2094	4247	6341	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995570T>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995570T>A	Exception_encountered						p.R735S	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			0	2309	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		735			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.2205A>T		.	.	.	.	.	.	.	.	.	.	T	8.543	0.873712	0.17322	.	.	ENSG00000212710	ENST00000391403	T	0.37915	1.17	0.614	0.614	0.17603	.	.	.	.	.	T	0.32556	0.0833	M	0.80028	2.48	0.09310	N	1	P	0.34684	0.463	B	0.20955	0.032	T	0.19160	-1.0314	7	.	.	.	.	.	.	.	.	735	Q96RT6	CTGE2_HUMAN	S	735	ENSP00000375220:R735S	.	R	-	3	2	CTAGE1	18249568	0.999000	0.42202	0.030000	0.17652	0.008000	0.06430	1.928000	0.40104	0.486000	0.27676	0.248000	0.18094	AGA		0.483	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19995570	T	A	19995570	1	1	5	0	1	0	0	0	0	0	0	0	3992	1664	58	5		5	CTAGE1	18	19995570	5'Flank	SNP	T	TCGA-02-2470-01A-01D-1494-08		19995570	58081678	63	334											
TCEB3B	51224	broad.mit.edu	37	chr18	44560403	44560403	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggattcgtttgctttcctTtgtttatctccaagtgcagt	5	20	8	8	1	1	0	0	0	1	0	4	1	2	1	2	1	2	4	2	1	2	7			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:44560403T>C	ENST00000332567.4	-	1	1585	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	411					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCTTTCCTTTGTTTATCTC	0.502																																						uc002lcr.1																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1231-1233)caA>caG		Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.							120	105	110					18																	44560403		2203	4300	6503	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560403T>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1233A>G	18.37:g.44560403T>C						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.Q411Q	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			0	1586	-			411					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.1233A>G	CCDS11932.1																																																																																				0.502	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		C	44560403	T	C	44560403	2	2	5	1	0	0	0	0	0	0	0	1	15679	1838	64	4		4	TCEB3B	18	44560403	Silent	SNP	T	TCGA-02-2470-01A-01D-1494-08	24564833	44560403	33516845	64	335											
MALT1	10892	broad.mit.edu	37	chr18	56400716	56400716	+	Frame_Shift_Del	DEL	A	A	-																															tccaaatccatataggtctgAaaattgtctgtgtgtacaaa																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:56400716delA	ENST00000348428.3	+	11	1568	c.1310delA	c.(1309-1311)gaafs	p.E437fs	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.E426fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	437	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATAGGTCTGAAAATTGTCTG	0.348			T	BIRC3	MALT																																	uc002lhm.1				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(1309-1311)gaafs		Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.							105	111	109					18																	56400716		2203	4300	6503	SO:0001589	frameshift_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56400716delA		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1310delA	18.37:g.56400716delA	ENSP00000319279:p.Glu437fs					MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs	p.E437fs	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			10	1568	+			437			Caspase-like.		Q9NTB7|Q9ULX4	Frame_Shift_Del	DEL	ENST00000348428.3	37	c.1310delA	CCDS11967.1																																																																																				0.348	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			-	56400716	A	-	56400716	7	5	5	1	0	1	0	1	0	0	0	0	9202	246	9	0	1352	0	MALT1	18	56400716	Frame_Shift_Del	DEL	A	TCGA-02-2470-01A-01D-1494-08	11840313	56400716	21676532	65	336											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025550	60025550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgccttttcctccaCggacaaatgcagaccctgga	9	10	8	14	1	1	2	0	1	1	1	3	4	3	4	4	2	2	1	4	2	1	2	rs376096275		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:60025550C>T	ENST00000586569.1	+	5	535	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.T166M	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	166					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTTCCTCCACGGACAAATGC	0.448																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(496-498)aCg>aTg		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.		C	MET/THR	0,4406		0,0,2203	132	125	127		497	1.3	0.2	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF11A	NM_003839.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	166/617	60025550	1,13005	2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025550C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.497C>T	18.37:g.60025550C>T	ENSP00000465500:p.Thr166Met					TNFRSF11A_uc010dpv.3_Missense_Mutation_p.T166M	p.T166M	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			4	535	+		Colorectal(73;0.188)	166					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.497C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	7.527	0.657875	0.14645	0.0	1.16E-4	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.63913	-0.07	5.11	1.31	0.21738	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.469142	0.23396	N	0.048628	T	0.51075	0.1653	M	0.79123	2.44	0.25966	N	0.982565	P;P	0.52692	0.904;0.955	B;B	0.28011	0.085;0.085	T	0.51639	-0.8680	9	.	.	.	-6.7304	9.899	0.41335	0.0:0.7574:0.0:0.2426	.	188;166	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	M	188;166	ENSP00000269485:T166M	.	T	+	2	0	TNFRSF11A	58176530	0.108000	0.22018	0.191000	0.23289	0.267000	0.26476	0.319000	0.19522	0.115000	0.18071	0.557000	0.71058	ACG		0.448	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			T	60025550	C	T	60025550	3	4	5	1	0	0	0	0	1	0	0	0	16281	536	19	1	515	1	TNFRSF11A	18	60025550	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	3624834	60025550	18051698	66	337											
TJP3	27134	broad.mit.edu	37	chr19	3730053	3730053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccacatcgtcatggtgaaCggggtttccatggagaatgc	10	9	13	9	2	1	2	1	1	0	1	3	4	2	2	2	4	2	1	2	4	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3730053C>T	ENST00000541714.2	+	4	648	c.186C>T	c.(184-186)aaC>aaT	p.N62N	TJP3_ENST00000262968.9_Silent_p.N81N|TJP3_ENST00000587686.1_Silent_p.N81N|TJP3_ENST00000539908.2_Silent_p.N26N|TJP3_ENST00000382008.3_Silent_p.N62N|TJP3_ENST00000589378.1_Silent_p.N71N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	62	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGTGAACGGGGTTTCCA	0.597																																						uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(241-243)aaC>aaT		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							153	136	141					19																	3730053		2203	4300	6503	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3730053C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.186C>T	19.37:g.3730053C>T						TJP3_uc010xhs.2_Silent_p.N62N|TJP3_uc010xht.2_Silent_p.N26N|TJP3_uc010xhu.2_Silent_p.N71N|TJP3_uc010xhw.2_Silent_p.N81N	p.N81N	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	2	243	+			62			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.243C>T	CCDS32873.2																																																																																				0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3730053	C	T	3730053	2	4	5	1	0	0	0	0	0	0	0	1	15928	535	19	1		1	TJP3	19	3730053	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		3730053	55398930	67	338											
MATK	4145	broad.mit.edu	37	chr19	3783147	3783147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccagctcctcctcggccGacttggtcccgtgtttccgc	2	11	11	17	4	0	0	0	0	0	0	5	1	4	0	6	3	1	2	6	3	0	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3783147G>A	ENST00000310132.6	-	7	1051	c.653C>T	c.(652-654)tCg>tTg	p.S218L	MATK_ENST00000395045.2_Missense_Mutation_p.S219L|MATK_ENST00000395040.2_Missense_Mutation_p.S177L|MATK_ENST00000585778.1_Missense_Mutation_p.S218L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	218					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGGCCGACTTGGTCCC	0.657																																						uc002lyt.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(652-654)tCg>tTg		Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.							123	92	102					19																	3783147		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783147G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.653C>T	19.37:g.3783147G>A	ENSP00000308734:p.Ser218Leu					MATK_uc002lyv.3_Missense_Mutation_p.S219L|MATK_uc002lyu.3_Missense_Mutation_p.S177L|MATK_uc010dtq.3_Missense_Mutation_p.S218L	p.S218L	NM_139355	NP_647611	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1053	-		Hepatocellular(1079;0.137)	218					B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.653C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413644	0.62511	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.74632	-0.86;-0.86;-0.84	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000002	T	0.82042	0.4951	L	0.56769	1.78	0.53688	D	0.999973	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.63488	0.915;0.878;0.915	T	0.83243	-0.0057	10	0.52906	T	0.07	-21.3508	14.8103	0.69989	0.0:0.0:1.0:0.0	.	218;219;218	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	L	219;218;177	ENSP00000378485:S219L;ENSP00000308734:S218L;ENSP00000378481:S177L	ENSP00000308734:S218L	S	-	2	0	MATK	3734147	1.000000	0.71417	0.068000	0.19968	0.097000	0.18754	8.789000	0.91839	2.159000	0.67721	0.561000	0.74099	TCG		0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		A	3783147	G	A	3783147	3	1	5	1	0	0	0	0	1	0	0	0	9332	1059	37	2	902	2	MATK	19	3783147	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	53094	3783147	55345836	68	339											
TMEM146	257062	broad.mit.edu	37	chr19	5757927	5757927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggttacacatcagatgggaAcaccaagtacaaactggtga	15	7	10	9	1	1	2	1	1	0	1	1	3	1	3	1	3	4	2	1	3	5	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:5757927A>G	ENST00000381624.3	+	14	1413	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	CATSPERD_ENST00000381614.2_Missense_Mutation_p.N109S|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	451					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCAGATGGGAACACCAAGTAC	0.567																																						uc002mda.3																			0											c.(1351-1353)aAc>aGc		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							68	72	71					19																	5757927		1986	4154	6140	SO:0001583	missense	257062					integral to membrane		g.chr19:5757927A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1352A>G	19.37:g.5757927A>G	ENSP00000371037:p.Asn451Ser					CATSPERD_uc010duj.1_Missense_Mutation_p.N109S	p.N451S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			13	1413	+			451					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1352A>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055147	0.36277	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.25579	1.79;1.79	3.93	0.606	0.17559	.	0.189067	0.25335	N	0.031409	T	0.25531	0.0621	M	0.64997	1.995	0.09310	N	1	P;P	0.44521	0.518;0.837	B;B	0.43728	0.103;0.429	T	0.13361	-1.0512	10	0.87932	D	0	-22.1988	6.0175	0.19611	0.6366:0.0:0.3634:0.0	.	377;451	B7WNK5;Q86XM0	.;TM146_HUMAN	S	377;451;109;122;120	ENSP00000371037:N451S;ENSP00000371027:N109S	ENSP00000310546:N122S	N	+	2	0	TMEM146	5708927	0.226000	0.23696	0.006000	0.13384	0.032000	0.12392	1.191000	0.32138	-0.151000	0.11176	0.240000	0.17902	AAC		0.567	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		G	5757927	A	G	5757927	3	3	5	1	0	0	0	0	1	0	0	0	16057	43	2	4	1406	4	TMEM146	19	5757927	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	1974780	5757927	53371056	69	340											
NFIX	4784	broad.mit.edu	37	chr19	13192662	13192662	+	Frame_Shift_Del	DEL	C	C	-																															ggatggctcgggccaggccaCcggacaggtgagtccagagg																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:13192662delC	ENST00000592199.1	+	8	1247	c.1247delC	c.(1246-1248)accfs	p.T416fs	NFIX_ENST00000587260.1_Frame_Shift_Del_p.T415fs|NFIX_ENST00000358552.3_Frame_Shift_Del_p.T374fs|NFIX_ENST00000585575.1_Frame_Shift_Del_p.T408fs|NFIX_ENST00000588228.1_Frame_Shift_Del_p.T369fs|NFIX_ENST00000360105.4_Frame_Shift_Del_p.T378fs|NFIX_ENST00000397661.2_Frame_Shift_Del_p.T416fs|NFIX_ENST00000587760.1_Frame_Shift_Del_p.T408fs			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	416					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCCAGGCCACCGGACAGGTG	0.612											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010xmx.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1270-1272)accfs		Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.							38	41	40					19																	13192662		1997	4147	6144	SO:0001589	frameshift_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192662delC	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1247delC	19.37:g.13192662delC	ENSP00000467512:p.Thr416fs		OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	NFIX_uc002mwd.3_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.3_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.3_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.2_Frame_Shift_Del_p.T415fs	p.T424fs			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		7	1324	+			416					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Frame_Shift_Del	DEL	ENST00000592199.1	37	c.1271delC																																																																																					0.612	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		-	13192662	C	-	13192662	7	5	5	1	0	1	0	1	0	0	0	0	10374	507	18	0	1277	0	NFIX	19	13192662	Frame_Shift_Del	DEL	C	TCGA-02-2470-01A-01D-1494-08	7434735	13192662	45936321	70	341											
NPHS1	4868	broad.mit.edu	37	chr19	36340038	36340038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccacgctgtggacacCggctggccattctggagaca	7	7	13	14	2	1	1	0	0	1	1	1	3	1	2	4	4	1	2	4	4	0	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:36340038C>T	ENST00000378910.5	-	8	851	c.852G>A	c.(850-852)ccG>ccA	p.P284P	NPHS1_ENST00000353632.6_Silent_p.P284P|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	284	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTGGACACCGGCTGGCCAT	0.677																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(850-852)ccG>ccA		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							39	38	38					19																	36340038		2203	4299	6502	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340038C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.852G>A	19.37:g.36340038C>T							p.P284P	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1008	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		284			Ig-like C2-type 3.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.852G>A	CCDS32996.1																																																																																				0.677	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			T	36340038	C	T	36340038	2	4	5	1	0	0	0	0	0	0	0	1	10582	639	23	2		2	NPHS1	19	36340038	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	23147376	36340038	22788945	71	342											
ZNF526	116115	broad.mit.edu	37	chr19	42730344	42730344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcagcgggtccatgccCgagctcggactttgacgcta	7	9	12	13	4	1	1	1	1	0	0	3	3	2	2	2	2	4	3	2	2	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:42730344C>G	ENST00000301215.3	+	3	2014	c.1789C>G	c.(1789-1791)Cga>Gga	p.R597G		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGTCCATGCCCGAGCTCGGAC	0.612																																						uc002osz.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1789-1791)Cga>Gga		Homo sapiens zinc finger protein 526 (ZNF526), mRNA.							66	65	66					19																	42730344		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730344C>G	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1789C>G	19.37:g.42730344C>G	ENSP00000301215:p.Arg597Gly					ZNF526_uc021uvc.1_Missense_Mutation_p.R597G	p.R597G	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			2	1945	+		Prostate(69;0.0704)	597					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1789C>G	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.217056	0.06101	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.08896	3.04	4.1	1.96	0.26148	Zinc finger, C2H2 (1);	0.677518	0.13299	N	0.398356	T	0.02342	0.0072	N	0.01668	-0.77	0.30188	N	0.799734	B	0.06786	0.001	B	0.09377	0.004	T	0.42982	-0.9419	10	0.02654	T	1	-4.0237	7.7739	0.29026	0.0:0.7404:0.165:0.0945	.	597	Q8TF50	ZN526_HUMAN	G	453;597	ENSP00000301215:R597G	ENSP00000301215:R597G	R	+	1	2	ZNF526	47422184	0.001000	0.12720	0.643000	0.29450	0.577000	0.36160	0.648000	0.24828	0.688000	0.31529	-0.136000	0.14681	CGA		0.612	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		G	42730344	C	G	42730344	3	3	5	1	0	0	0	0	1	0	0	0	17964	644	23	5	1791	5	ZNF526	19	42730344	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	6390306	42730344	16398639	72	343											
ZNF667	63934	broad.mit.edu	37	chr19	56953854	56953859	+	In_Frame_Del	DEL	CTTCTC	CTTCTC	-																															caattactgcattcaaaaggCttctctcctgtatgaatgtt																								rs554126786		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:56953854_56953859delCTTCTC	ENST00000504904.3	-	7	1224_1229	c.505_510delGAGAAG	c.(505-510)gagaagdel	p.EK169del	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_In_Frame_Del_p.EK169del|ZNF667_ENST00000342634.3_In_Frame_Del_p.EK297del			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCAAAAGGCTTCTCTCCTGTATGA	0.374																																						uc002qne.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(505-510)gagaagdel		Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953854_56953859delCTTCTC		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.505_510delGAGAAG	19.37:g.56953854_56953859delCTTCTC	ENSP00000439402:p.Glu169_Lys170del					ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_In_Frame_Del_p.EK169del|ZNF667_uc010etm.3_In_Frame_Del_p.EK112del	p.EK169del	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	6	1296_1301	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	169					B2RMS6|B9EK36|Q6B093|Q9H807	In_Frame_Del	DEL	ENST00000504904.3	37	c.505_510delGAGAAG	CCDS12944.1																																																																																				0.374	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		-	56953859	CTTCTC	-	56953854	7	5	5	1	0	1	0	1	0	0	0	0	18071	796	28	0	1326	0	ZNF667	19	56953854	In_Frame_Del	DEL	CTTCTC	TCGA-02-2470-01A-01D-1494-08	14223510	56953854	2175129	73	344											
ZNF606	80095	broad.mit.edu	37	chr19	58490980	58490980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgttccataaaggatgaGaaataaaagatattctcata	18	12	7	4	0	1	3	1	2	1	2	3	5	2	4	1	1	0	1	1	1	7	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:58490980G>C	ENST00000341164.4	-	7	1688	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	ZNF606_ENST00000536132.1_Missense_Mutation_p.F266L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGGATGAGAAATAAAAGA	0.333																																						uc002qqw.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1066-1068)ttC>ttG		Homo sapiens zinc finger protein 606 (ZNF606), mRNA.							102	96	98					19																	58490980		2203	4299	6502	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490980G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1068C>G	19.37:g.58490980G>C	ENSP00000343617:p.Phe356Leu					ZNF606_uc010yhp.2_Missense_Mutation_p.F266L	p.F356L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	6	1686	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	356					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1068C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	2.568	-0.300220	0.05532	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.13901	2.55;2.55;2.55	4.29	-0.44	0.12261	.	0.000000	0.46442	D	0.000292	T	0.05364	0.0142	N	0.11064	0.09	0.23381	N	0.997793	B	0.18013	0.025	B	0.12837	0.008	T	0.44003	-0.9356	10	0.10111	T	0.7	.	9.0395	0.36309	0.3469:0.0:0.6531:0.0	.	356	Q8WXB4	ZN606_HUMAN	L	356;266;356	ENSP00000343617:F356L;ENSP00000445624:F266L;ENSP00000446972:F356L	ENSP00000343617:F356L	F	-	3	2	ZNF606	63182792	0.744000	0.28250	0.994000	0.49952	0.974000	0.67602	-0.229000	0.09098	0.033000	0.15463	0.655000	0.94253	TTC		0.333	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		C	58490980	G	C	58490980	3	2	5	1	0	0	0	0	1	0	0	0	18029	933	33	5	1314	5	ZNF606	19	58490980	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	1537126	58490980	638003	74	345											
PLCB4	5332	broad.mit.edu	37	chr20	9417712	9417712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggaaaggccaacaccGccaaagcaaatgtgacccct	17	3	9	12	1	0	2	0	1	0	1	0	3	0	3	5	2	2	1	5	2	5	0	rs375191340		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:9417712G>A	ENST00000378493.1	+	26	2656	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.A881T|PLCB4_ENST00000378473.3_Missense_Mutation_p.A893T|PLCB4_ENST00000414679.2_Missense_Mutation_p.A893T|PLCB4_ENST00000278655.4_Missense_Mutation_p.A881T|PLCB4_ENST00000378501.2_Missense_Mutation_p.A881T			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	881					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCAACACCGCCAAAGCAAA	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		17395	0		0	False		,,,				2504	0					uc021wam.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2641-2643)Gcc>Acc		Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	89	77	81		2641,2677,2641	5.1	0.8	20		81	0,8600		0,0,4300	no	missense,missense,missense	PLCB4	NM_000933.3,NM_001172646.1,NM_182797.2	58,58,58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	881/1195,893/1188,881/1176	9417712	4,13002	2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9417712G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2641G>A	20.37:g.9417712G>A	ENSP00000367754:p.Ala881Thr					PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.3_Missense_Mutation_p.A893T|PLCB4_uc021wal.1_Missense_Mutation_p.A881T|PLCB4_uc002wnh.3_Missense_Mutation_p.A728T	p.A881T	NM_000933	NP_000924	Q15147	PLCB4_HUMAN			25	2656	+			881					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2641G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	2.502	-0.315047	0.05422	9.08E-4	0.0	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61742	2.21;2.22;0.08;0.08;2.21;2.03	6.07	5.12	0.69794	.	0.225490	0.47093	N	0.000260	T	0.41994	0.1183	L	0.29908	0.895	0.43598	D	0.995951	B;B;B;B	0.31519	0.003;0.042;0.327;0.002	B;B;B;B	0.21360	0.003;0.004;0.034;0.003	T	0.16541	-1.0399	10	0.15952	T	0.53	.	14.6697	0.68934	0.0614:0.1551:0.7834:0.0	.	893;728;881;881	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	T	881;893;881;881;881;729	ENSP00000334105:A881T;ENSP00000367734:A893T;ENSP00000278655:A881T;ENSP00000367754:A881T;ENSP00000367762:A881T;ENSP00000390616:A729T	ENSP00000278655:A881T	A	+	1	0	PLCB4	9365712	1.000000	0.71417	0.812000	0.32479	0.036000	0.12997	3.235000	0.51328	0.912000	0.36772	-0.797000	0.03246	GCC		0.512	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			A	9417712	G	A	9417712	3	1	5	1	0	0	0	0	1	0	0	0	12030	1087	38	1	2783	1	PLCB4	20	9417712	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		9417712	53607808	75	346											
KIF16B	55614	broad.mit.edu	37	chr20	16506810	16506810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcataggtgaaggtcttgGtccgttctcttcctgagtcc	6	14	11	10	1	3	2	1	2	2	0	7	2	6	2	3	3	0	1	3	3	2	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:16506810G>C	ENST00000354981.2	-	3	315	c.158C>G	c.(157-159)aCc>aGc	p.T53S	KIF16B_ENST00000408042.1_Missense_Mutation_p.T53S|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.T53S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAAGGTCTTGGTCCGTTCTCT	0.353																																						uc002wpg.2																			0		p.R52L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(157-159)aCc>aGc		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							161	162	161					20																	16506810		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16506810G>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.158C>G	20.37:g.16506810G>C	ENSP00000347076:p.Thr53Ser					KIF16B_uc010gch.2_Missense_Mutation_p.T53S|KIF16B_uc010gci.2_Missense_Mutation_p.T53S|KIF16B_uc010gcj.2_Missense_Mutation_p.T53S	p.T53S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			2	317	-			53			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.158C>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838583	0.71373	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74947	-0.89;-0.89;-0.89	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.129159	0.53938	D	0.000053	T	0.68311	0.2987	N	0.10707	0.03	0.80722	D	1	P;D;P;D	0.53462	0.893;0.96;0.947;0.957	P;P;P;P	0.55667	0.566;0.695;0.673;0.781	T	0.69139	-0.5224	10	0.27785	T	0.31	.	16.3704	0.83355	0.0:0.0:1.0:0.0	.	53;53;53;53	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	53	ENSP00000347076:T53S;ENSP00000347995:T53S;ENSP00000384164:T53S	ENSP00000347076:T53S	T	-	2	0	KIF16B	16454810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.092000	0.50207	2.584000	0.87258	0.557000	0.71058	ACC		0.353	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		C	16506810	G	C	16506810	3	2	5	1	0	0	0	0	1	0	0	0	8278	1261	44	5	3891	5	KIF16B	20	16506810	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	7089098	16506810	46518710	76	347											
SSTR4	6754	broad.mit.edu	37	chr20	23016581	23016581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgcaccctctgcgcgCggcgacctaccggcggccca	4	5	14	18	7	1	0	0	0	1	0	1	1	1	0	4	4	3	1	4	4	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:23016581C>T	ENST00000255008.3	+	1	525	c.461C>T	c.(460-462)gCg>gTg	p.A154V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	154					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCTGCGCGCGGCGACCTAC	0.662																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(460-462)gCg>gTg		Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.							49	53	52					20																	23016581		2201	4294	6495	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016581C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.461C>T	20.37:g.23016581C>T	ENSP00000255008:p.Ala154Val						p.A154V	NM_001052	NP_001043	P31391	SSR4_HUMAN			0	525	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		154					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.461C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264476	0.59431	.	.	ENSG00000132671	ENST00000255008	T	0.19394	2.15	3.87	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000009	T	0.28732	0.0712	M	0.79011	2.435	0.41293	D	0.986996	P	0.39480	0.675	B	0.43658	0.426	T	0.05886	-1.0858	10	0.87932	D	0	.	8.139	0.31071	0.0:0.7959:0.0:0.2041	.	154	P31391	SSR4_HUMAN	V	154	ENSP00000255008:A154V	ENSP00000255008:A154V	A	+	2	0	SSTR4	22964581	0.976000	0.34144	0.068000	0.19968	0.362000	0.29581	5.258000	0.65479	0.292000	0.22492	0.655000	0.94253	GCG		0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			T	23016581	C	T	23016581	3	4	5	1	0	0	0	0	1	0	0	0	15199	768	27	1	463	1	SSTR4	20	23016581	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	6509771	23016581	40008939	77	348											
BPIL1	80341	broad.mit.edu	37	chr20	31606072	31606072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtttcatgaaggcctcaaCcccgtgggtcctgagtccca	7	10	11	13	1	2	2	2	2	0	0	4	2	4	2	5	3	1	1	5	3	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:31606072C>G	ENST00000170150.3	+	8	780	c.585C>G	c.(583-585)aaC>aaG	p.N195K		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	195						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AAGGCCTCAACCCCGTGGGTC	0.473																																						uc002wyj.3																			0											c.(583-585)aaC>aaG		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.							109	98	101					20																	31606072		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606072C>G	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.585C>G	20.37:g.31606072C>G	ENSP00000170150:p.Asn195Lys						p.N195K	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			7	779	+			195					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.585C>G	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	2.058	-0.416019	0.04766	.	.	ENSG00000078898	ENST00000170150	T	0.04454	3.62	5.0	1.91	0.25777	.	1.006310	0.07990	N	0.986930	T	0.03695	0.0105	N	0.24115	0.695	0.25642	N	0.986197	B	0.02656	0.0	B	0.04013	0.001	T	0.45279	-0.9272	10	0.48119	T	0.1	-1.6895	3.1462	0.06472	0.181:0.5458:0.1752:0.098	.	195	Q8N4F0	BPIB2_HUMAN	K	195	ENSP00000170150:N195K	ENSP00000170150:N195K	N	+	3	2	BPIFB2	31069733	0.002000	0.14202	0.879000	0.34478	0.928000	0.56348	-0.208000	0.09371	0.257000	0.21650	0.555000	0.69702	AAC		0.473	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		G	31606072	C	G	31606072	3	3	5	1	0	0	0	0	1	0	0	0	1491	506	18	5	611	5	BPIL1	20	31606072	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	8589491	31606072	31419448	78	349											
PPP1R16B	26051	broad.mit.edu	37	chr20	37534721	37534721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagcccctgcatgcagCtgccttctggggacaggtag	6	8	15	12	0	1	0	0	0	1	0	1	2	1	2	3	4	5	4	3	4	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:37534721C>T	ENST00000299824.1	+	7	995	c.806C>T	c.(805-807)gCt>gTt	p.A269V	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	269					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGCATGCAGCTGCCTTCTGG	0.607																																						uc002xje.3																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(805-807)gCt>gTt		Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.							71	69	70					20																	37534721		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37534721C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.806C>T	20.37:g.37534721C>T	ENSP00000299824:p.Ala269Val					PPP1R16B_uc010ggc.3_Intron	p.A269V	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			6	995	+		Myeloproliferative disorder(115;0.00878)	269					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.806C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492256	0.96339	.	.	ENSG00000101445	ENST00000299824	T	0.80824	-1.42	5.55	5.55	0.83447	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90815	0.4704	10	0.72032	D	0.01	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	269	Q96T49	PP16B_HUMAN	V	269	ENSP00000299824:A269V	ENSP00000299824:A269V	A	+	2	0	PPP1R16B	36968135	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	7.237000	0.78164	2.894000	0.99253	0.655000	0.94253	GCT		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		T	37534721	C	T	37534721	3	4	5	1	0	0	0	0	1	0	0	0	12366	797	28	3	828	3	PPP1R16B	20	37534721	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	5928649	37534721	25490799	79	350											
MX2	4600	broad.mit.edu	37	chr21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagtatcgaggcaaggAgcttctgggatttgtcaact	12	10	12	7	1	2	0	1	0	1	0	3	3	2	2	0	3	3	4	0	3	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	491					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1471-1473)gAg>gGg		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							128	121	124					21																	42773954		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42773954A>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1472A>G	21.37:g.42773954A>G	ENSP00000333657:p.Glu491Gly					MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR	p.E491G	NM_002463	NP_002454	P20592	MX2_HUMAN			10	1576	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	491					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1472A>G	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666438	0.67814	.	.	ENSG00000183486	ENST00000330714	T	0.74842	-0.88	3.69	3.69	0.42338	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.84585	2.705	0.80722	D	1	P	0.37636	0.603	P	0.51945	0.685	D	0.86259	0.1654	10	0.87932	D	0	.	11.9258	0.52819	1.0:0.0:0.0:0.0	.	491	P20592	MX2_HUMAN	G	491	ENSP00000333657:E491G	ENSP00000333657:E491G	E	+	2	0	MX2	41695824	1.000000	0.71417	0.532000	0.27989	0.544000	0.35116	7.542000	0.82095	1.641000	0.50575	0.456000	0.33151	GAG		0.433	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		G	42773954	A	G	42773954	3	3	5	1	0	0	0	0	1	0	0	0	9998	304	11	4	1510	4	MX2	21	42773954	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08		42773954	5355941	80	351											
MAGEB18	286514	broad.mit.edu	37	chrX	26157158	26157158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaacgccaccaggctcGttgtgagaatcaggatctgg	11	8	13	9	2	2	2	1	2	1	2	3	5	2	3	2	3	1	2	2	3	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:26157158G>A	ENST00000325250.1	+	2	243	c.56G>A	c.(55-57)cGt>cAt	p.R19H		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	19						cytoplasm (GO:0005737)		p.R19H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACCAGGCTCGTTGTGAGAAT	0.532																																						uc022bub.1																			1	Substitution - Missense(1)	p.R19H(2)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(55-57)cGt>cAt		Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.							53	47	49					X																	26157158		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157158G>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.56G>A	X.37:g.26157158G>A	ENSP00000314543:p.Arg19His					MAGEB18_uc004dbq.2_Missense_Mutation_p.R19H	p.R19H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			0	56	+			19						Missense_Mutation	SNP	ENST00000325250.1	37	c.56G>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	6.418	0.445275	0.12164	.	.	ENSG00000176774	ENST00000325250	T	0.07021	3.23	4.15	1.44	0.22558	Melanoma associated antigen, MAGE, N-terminal (1);	1.078760	0.07144	N	0.847833	T	0.09905	0.0243	L	0.56199	1.76	0.09310	N	1	P	0.41313	0.745	B	0.39119	0.291	T	0.31943	-0.9925	10	0.52906	T	0.07	.	5.6272	0.17488	0.3652:0.0:0.6348:0.0	.	19	Q96M61	MAGBI_HUMAN	H	19	ENSP00000314543:R19H	ENSP00000314543:R19H	R	+	2	0	MAGEB18	26067079	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.249000	0.18216	0.165000	0.19558	-0.190000	0.12839	CGT		0.532	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		A	26157158	G	A	26157158	3	1	5	1	0	0	0	0	1	0	0	0	9175	1145	40	1	58	1	MAGEB18	23	26157158	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		26157158	129113402	81	352											
CXorf48	54967	broad.mit.edu	37	chrX	134294392	134294392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaatataaatattatctTcatttatagaagtaacacat	18	16	2	5	0	2	1	1	0	1	1	2	1	2	1	0	0	2	1	0	0	11	11			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:134294392T>C	ENST00000276241.6	-	3	594	c.368A>G	c.(367-369)gAa>gGa	p.E123G	CXorf48_ENST00000344129.2_Missense_Mutation_p.E123G	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AATATTATCTTCATTTATAGA	0.308																																						uc004eyk.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(367-369)gAa>gGa		Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.							20	19	19					X																	134294392		2202	4288	6490	SO:0001583	missense	54967							g.chrX:134294392T>C																												ENST00000276241.6:c.368A>G	X.37:g.134294392T>C	ENSP00000276241:p.Glu123Gly					CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	p.E123G	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN			2	1024	-	Acute lymphoblastic leukemia(192;0.000127)		123					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.368A>G	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	T	9.647	1.140636	0.21205	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.50813	0.73;0.73	2.93	1.66	0.24008	.	0.530450	0.15689	N	0.249532	T	0.31765	0.0807	L	0.38175	1.15	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.16660	-1.0395	10	0.39692	T	0.17	-2.9105	4.5443	0.12073	0.0:0.163:0.0:0.837	.	123	Q8WUE5	CX048_HUMAN	G	123	ENSP00000276241:E123G;ENSP00000343893:E123G	ENSP00000276241:E123G	E	-	2	0	CXorf48	134122058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	0.348000	0.23949	0.481000	0.45027	GAA		0.308	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			C	134294392	T	C	134294392	3	2	5	1	0	0	0	0	1	0	0	0	4111	1783	62	4	446	4	CXorf48	23	134294392	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	108137234	134294392	20976168	82	353											
PHACTR4	65979	broad.mit.edu	37	chr1	28800112	28800112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacattgttatcaaaaccGtccccacccttaccacctaa	12	10	4	15	1	1	0	1	0	0	0	2	0	2	0	6	1	3	2	6	1	6	5	rs201982408	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:28800112G>A	ENST00000373839.3	+	7	1131	c.870G>A	c.(868-870)ccG>ccA	p.P290P	PHACTR4_ENST00000373836.3_Silent_p.P300P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	290	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAAACCGTCCCCACCCT	0.463																																						uc001bpy.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(898-900)ccG>ccA		Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.		G	,	0,4088		0,0,2044	159	153	155		870,900	-0.8	1	1		155	3,8387		0,3,4192	no	coding-synonymous,coding-synonymous	PHACTR4	NM_001048183.1,NM_023923.3	,	0,3,6236	AA,AG,GG		0.0358,0.0,0.024	,	290/703,300/713	28800112	3,12475	2044	4195	6239	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800112G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.870G>A	1.37:g.28800112G>A						PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.P290P|PHACTR4_uc001bpx.3_Silent_p.P274P	p.P300P	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	5	1135	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	290			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.900G>A	CCDS41293.1																																																																																				0.463	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		A	28800112	G	A	28800112	2	1	6	1	0	0	0	0	0	0	0	1	11812	1132	40	1		1	PHACTR4	1	28800112	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		28800112	220450509	1	354											
C1orf141	400757	broad.mit.edu	37	chr1	67561965	67561965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaccttctaagagaccaAcagaatccaatggtttccta	14	11	5	11	0	2	2	1	0	1	2	4	3	4	2	4	1	1	1	4	1	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:67561965A>G	ENST00000371007.2	-	6	495	c.386T>C	c.(385-387)gTt>gCt	p.V129A	C1orf141_ENST00000544837.1_Missense_Mutation_p.V129A|C1orf141_ENST00000371006.1_Missense_Mutation_p.V129A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	129										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TAAGAGACCAACAGAATCCAA	0.259																																						uc001ddl.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(385-387)gTt>gCt		Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.							30	32	32					1																	67561965		2166	4268	6434	SO:0001583	missense	400757							g.chr1:67561965A>G	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.386T>C	1.37:g.67561965A>G	ENSP00000360046:p.Val129Ala					C1orf141_uc001ddm.1_Missense_Mutation_p.V129A|C1orf141_uc001ddn.1_Non-coding_Transcript	p.V129A	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			4	497	-			129					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.386T>C	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	A	3.558	-0.090278	0.07053	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837;ENST00000371005;ENST00000448166	T;T;T	0.28069	1.63;1.63;1.63	3.95	-2.4	0.06583	.	4.406720	0.00725	N	0.000917	T	0.04272	0.0118	N	0.12182	0.205	0.09310	N	1	B	0.17268	0.021	B	0.12837	0.008	T	0.15665	-1.0429	10	0.14656	T	0.56	3.8079	4.361	0.11203	0.3595:0.0:0.4548:0.1857	.	129	Q5JVX7	CA141_HUMAN	A	129;129;129;200;200	ENSP00000360046:V129A;ENSP00000360045:V129A;ENSP00000444018:V129A	ENSP00000360044:V200A	V	-	2	0	C1orf141	67334553	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.201000	0.17276	-0.489000	0.06716	0.459000	0.35465	GTT		0.259	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		G	67561965	A	G	67561965	3	3	6	1	0	0	0	0	1	0	0	0	2001	43	2	4	828	4	C1orf141	1	67561965	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	38761853	67561965	181688656	2	355											
WDR63	126820	broad.mit.edu	37	chr1	85551548	85551548	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcgaaaacgaagtgaatTtggtgcaccaattaagttca	14	12	8	7	2	2	1	1	1	1	0	3	3	2	1	1	1	2	2	1	1	6	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:85551548T>A	ENST00000294664.6	+	7	755	c.575T>A	c.(574-576)tTt>tAt	p.F192Y	WDR63_ENST00000326813.8_Missense_Mutation_p.F192Y|WDR63_ENST00000370596.1_Missense_Mutation_p.F192Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGAAGTGAATTTGGTGCACCA	0.353																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(574-576)tTt>tAt		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							107	99	102					1																	85551548		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85551548T>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.575T>A	1.37:g.85551548T>A	ENSP00000294664:p.Phe192Tyr					WDR63_uc009wcl.3_Missense_Mutation_p.F192Y	p.F192Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	6	766	+			192					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.575T>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700583	0.88924	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.59224	0.41;0.41;0.28	5.71	5.71	0.89125	.	0.098090	0.64402	D	0.000001	T	0.70211	0.3198	M	0.73962	2.25	0.52099	D	0.999946	D;D	0.89917	1.0;0.995	D;P	0.81914	0.995;0.788	T	0.73026	-0.4112	10	0.51188	T	0.08	-9.7786	15.9833	0.80130	0.0:0.0:0.0:1.0	.	192;192	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	Y	192	ENSP00000359628:F192Y;ENSP00000317463:F192Y;ENSP00000294664:F192Y	ENSP00000294664:F192Y	F	+	2	0	WDR63	85324136	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.757000	0.62213	2.177000	0.69029	0.482000	0.46254	TTT		0.353	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85551548	T	A	85551548	3	1	6	1	0	0	0	0	1	0	0	0	17311	1841	64	5	597	5	WDR63	1	85551548	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	17989583	85551548	163699073	3	356											
PGLYRP4	57115	broad.mit.edu	37	chr1	153313050	153313050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaccgtgggacaacgccggGgcaagctgaggtggggcgag	9	3	20	9	4	0	2	0	1	0	1	0	4	0	3	2	6	2	2	2	6	2	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:153313050G>C	ENST00000359650.5	-	7	695	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.P207A	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	211					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAACGCCGGGGCAAGCTGAG	0.587																																						uc001fbo.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(631-633)Ccc>Gcc		Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.							42	41	41					1																	153313050		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153313050G>C	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.631C>G	1.37:g.153313050G>C	ENSP00000352672:p.Pro211Ala					PGLYRP4_uc001fbp.3_Missense_Mutation_p.P207A	p.P211A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	696	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		211					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.631C>G	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351152	0.24512	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.50813	0.73;0.73	3.64	2.72	0.32119	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (5);	0.222920	0.30028	N	0.010596	T	0.47948	0.1473	M	0.83603	2.65	0.29077	N	0.882948	D;D	0.89917	1.0;1.0	D;D	0.73380	0.965;0.98	T	0.38802	-0.9644	10	0.16420	T	0.52	-14.2758	7.0428	0.25029	0.1288:0.0:0.8712:0.0	.	207;211	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	A	207;211	ENSP00000357728:P207A;ENSP00000352672:P211A	ENSP00000352672:P211A	P	-	1	0	PGLYRP4	151579674	0.993000	0.37304	0.593000	0.28771	0.062000	0.15995	2.033000	0.41136	0.836000	0.34901	0.655000	0.94253	CCC		0.587	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		C	153313050	G	C	153313050	3	2	6	1	0	0	0	0	1	0	0	0	11796	1232	43	5	502	5	PGLYRP4	1	153313050	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	67761502	153313050	95937571	4	357											
KIFAP3	22920	broad.mit.edu	37	chr1	169951166	169951166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatttggctagcaatgcaGcacaagagtcatccatggat	13	9	10	9	0	1	2	1	0	0	2	2	3	2	3	1	2	3	4	1	2	3	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:169951166G>A	ENST00000361580.2	-	15	1972	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	KIFAP3_ENST00000367765.1_Missense_Mutation_p.A542V|KIFAP3_ENST00000367767.1_Missense_Mutation_p.A538V|KIFAP3_ENST00000538366.1_Missense_Mutation_p.A504V|KIFAP3_ENST00000540905.1_Missense_Mutation_p.A284V	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	582					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.A582V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCAATGCAGCACAAGAGTC	0.343																																						uc001ggv.3																			1	Substitution - Missense(1)	p.A582V(2)	endometrium(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1744-1746)gCt>gTt		Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.							120	110	113					1																	169951166		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951166G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1745C>T	1.37:g.169951166G>A	ENSP00000354560:p.Ala582Val					KIFAP3_uc021pep.1_Missense_Mutation_p.A542V|KIFAP3_uc010ply.2_Missense_Mutation_p.A504V|KIFAP3_uc001ggw.2_Missense_Mutation_p.A538V|KIFAP3_uc010plx.2_Missense_Mutation_p.A284V	p.A582V	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN			14	2016	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		582					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1745C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884262	0.91814	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.66	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74615	-0.3606	9	.	.	.	-17.821	14.3683	0.66820	0.0718:0.0:0.9282:0.0	.	582	Q92845	KIFA3_HUMAN	V	582;542;538;284;504	ENSP00000354560:A582V;ENSP00000356739:A542V;ENSP00000356741:A538V;ENSP00000442712:A284V;ENSP00000444622:A504V	.	A	-	2	0	KIFAP3	168217790	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.246000	0.72405	1.526000	0.49068	0.585000	0.79938	GCT		0.343	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		A	169951166	G	A	169951166	3	1	6	1	0	0	0	0	1	0	0	0	8311	971	34	3	657	3	KIFAP3	1	169951166	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	16638116	169951166	79299455	5	358											
APOB	338	broad.mit.edu	37	chr2	21230155	21230155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgctctgactgataaaCtcacaaagcacagccaaagg	15	8	8	10	0	2	3	1	3	1	0	2	3	2	3	1	1	4	2	1	1	4	2	rs141840973		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21230155C>G	ENST00000233242.1	-	26	9712	c.9585G>C	c.(9583-9585)gaG>gaC	p.E3195D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3195	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTGATAAACTCACAAAGCA	0.323																																						uc002red.3																			0		p.E3195Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9583-9585)gaG>gaC		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						60	58	59					2																	21230155		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230155C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9585G>C	2.37:g.21230155C>G	ENSP00000233242:p.Glu3195Asp						p.E3195D	NM_000384	NP_000375	P04114	APOB_HUMAN			25	9713	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3195			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9585G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.136	-1.107769	0.01813	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38077	1.16	5.3	-3.84	0.04256	.	0.742000	0.12265	N	0.484400	T	0.16981	0.0408	L	0.31157	0.91	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.20638	-1.0269	10	0.27082	T	0.32	.	0.2	0.00144	0.3535:0.1515:0.2134:0.2817	.	3195	P04114	APOB_HUMAN	D	3195	ENSP00000233242:E3195D	ENSP00000233242:E3195D	E	-	3	2	APOB	21083660	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.345000	0.07770	-0.313000	0.08728	0.563000	0.77884	GAG		0.323	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21230155	C	G	21230155	3	3	6	1	0	0	0	0	1	0	0	0	785	564	20	5	4122	5	APOB	2	21230155	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08		21230155	221969218	6	359											
APOB	338	broad.mit.edu	37	chr2	21246441	21246441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttggctccgggagcaaTgactccagatgaagatattt	11	10	11	9	1	0	4	0	2	0	2	2	5	2	5	3	2	2	2	3	2	3	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21246441T>C	ENST00000233242.1	-	17	2687	c.2560A>G	c.(2560-2562)Att>Gtt	p.I854V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	854					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGAGCAATGACTCCAGAT	0.423																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2560-2562)Att>Gtt		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						108	102	104					2																	21246441		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21246441T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2560A>G	2.37:g.21246441T>C	ENSP00000233242:p.Ile854Val						p.I854V	NM_000384	NP_000375	P04114	APOB_HUMAN			16	2688	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		854					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2560A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	2.371	-0.344309	0.05208	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.13089	2.62	5.35	-1.62	0.08372	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.705821	0.12955	N	0.425536	T	0.05823	0.0152	N	0.25890	0.77	0.09310	N	0.999994	B	0.17465	0.022	B	0.17433	0.018	T	0.41270	-0.9518	10	0.07990	T	0.79	.	0.9683	0.01410	0.1394:0.2228:0.2678:0.37	.	854	P04114	APOB_HUMAN	V	854	ENSP00000233242:I854V	ENSP00000233242:I854V	I	-	1	0	APOB	21099946	0.939000	0.31865	0.917000	0.36280	0.059000	0.15707	0.403000	0.20982	-0.184000	0.10567	0.533000	0.62120	ATT		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21246441	T	C	21246441	3	2	6	1	0	0	0	0	1	0	0	0	785	1464	51	4	11183	4	APOB	2	21246441	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	16286	21246441	221952932	7	360											
SPTBN1	6711	broad.mit.edu	37	chr2	54857158	54857158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccagcaggacaaactCaacacaaggtgagcacgtgg	16	3	11	11	1	1	1	1	1	0	0	1	2	1	2	1	3	5	2	1	3	4	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:54857158C>A	ENST00000356805.4	+	15	3080	c.2799C>A	c.(2797-2799)ctC>ctA	p.L933L	SPTBN1_ENST00000333896.5_Silent_p.L920L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	933					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGACAAACTCAACACAAGGT	0.582																																						uc002rxu.3																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2797-2799)ctC>ctA		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							60	56	58					2																	54857158		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54857158C>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2799C>A	2.37:g.54857158C>A						SPTBN1_uc002rxx.3_Silent_p.L920L	p.L933L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	3048	+			933					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2799C>A	CCDS33198.1																																																																																				0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54857158	C	A	54857158	2	1	6	1	0	0	0	0	0	0	0	1	15118	813	29	5		5	SPTBN1	2	54857158	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	33610717	54857158	188342215	8	361											
WDR33	55339	broad.mit.edu	37	chr2	128471476	128471476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctatcagggggaccccTgcagtcctggccaccccgga	7	5	12	17	2	1	0	1	0	0	0	2	2	2	2	7	4	1	1	7	4	1	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:128471476T>C	ENST00000322313.4	-	18	3147	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	997					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGACCCCTGCAGTCCTGG	0.647																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2989-2991)Agg>Ggg		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							78	87	84					2																	128471476		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471476T>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2989A>G	2.37:g.128471476T>C	ENSP00000325377:p.Arg997Gly						p.R997G	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	17	3188	-	Colorectal(110;0.1)		997					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2989A>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895778	0.72639	.	.	ENSG00000136709	ENST00000322313	D	0.90444	-2.67	5.57	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.88603	0.6481	N	0.14661	0.345	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	D	0.86361	0.1717	10	0.29301	T	0.29	-5.055	12.6414	0.56712	0.0:0.0:0.1382:0.8618	.	997	Q9C0J8	WDR33_HUMAN	G	997	ENSP00000325377:R997G	ENSP00000325377:R997G	R	-	1	2	WDR33	128187946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.489000	0.60309	0.903000	0.36546	0.533000	0.62120	AGG		0.647	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		C	128471476	T	C	128471476	3	2	6	1	0	0	0	0	1	0	0	0	17284	1579	55	4	1041	4	WDR33	2	128471476	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	73614318	128471476	114727897	9	362											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	6	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	80641636	209113112	34086261	10	363											
CHL1	10752	broad.mit.edu	37	chr3	367748	367748	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaatccagaaccaacGtgagtattgtttcaaacgaa	18	8	8	7	2	1	2	1	1	0	1	2	4	2	3	2	1	3	2	2	1	7	3	rs368124235		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:367748G>A	ENST00000256509.2	+	4	839		c.e4+1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAACCAACGTGAGTATTGT	0.393																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e4+1		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							67	69	68					3																	367748		2202	4300	6502	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367748G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.197+1G>A	3.37:g.367748G>A						CHL1_uc003bou.3_Splice_Site_p.T66_splice|CHL1_uc003bow.2_Splice_Site_p.T66_splice|CHL1_uc011asi.2_Splice_Site_p.T66_splice	p.T66_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	4	839	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	66			Ig-like C2-type 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37	c.197_splice	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399349	0.42512	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000421198;ENST00000435603;ENST00000449294	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7089	0.88316	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	342748	1.000000	0.71417	0.954000	0.39281	0.246000	0.25737	7.870000	0.87175	2.605000	0.88082	0.454000	0.30748	.		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron	A	367748	G	A	367748	5	1	6	1	0	0	0	0	0	0	1	0	3349	1159	40	1	204	1	CHL1	3	367748	Splice_Site	SNP	G	TCGA-02-2483-01A-01D-1494-08		367748	197654682	11	364											
ATP2B2	491	broad.mit.edu	37	chr3	10491052	10491052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggtgaggttttgaggCgccggcagatggcttcggtg	7	9	17	8	3	0	3	0	2	0	1	1	3	0	3	1	6	1	3	1	6	1	3	rs149328739		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:10491052C>T	ENST00000352432.4	-	1	245	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R59H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R59H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R59H|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R59H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	59					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTTTTGAGGCGCCGGCAGAT	0.562													C|||	1	0.000199681	0	0	5008	,	,		16792	0		0	False		,,,				2504	0.001				Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0		p.R59C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(175-177)cGc>cAc		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	72	67	69		176,176	4.9	1	3	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP2B2	NM_001001331.2,NM_001683.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	59/1244,59/1199	10491052	2,13004	2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10491052C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.176G>A	3.37:g.10491052C>T	ENSP00000324172:p.Arg59His					ATP2B2_uc003bvv.3_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	p.R59H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			1	615	-			59					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.176G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744985	0.69418	2.27E-4	1.16E-4	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	4.9	4.9	0.64082	ATPase, P-type cation-transporter, N-terminal (2);	0.071490	0.56097	D	0.000023	T	0.80088	0.4559	M	0.67953	2.075	0.80722	D	1	B;B;B	0.27286	0.002;0.03;0.174	B;B;B	0.29524	0.003;0.021;0.103	T	0.79685	-0.1700	10	0.54805	T	0.06	-24.0908	15.5665	0.76298	0.0:1.0:0.0:0.0	.	59;71;59	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	H	59;59;59;59;59;25;59	ENSP00000324172:R59H;ENSP00000373311:R59H;ENSP00000380267:R59H;ENSP00000353414:R59H;ENSP00000344677:R59H	ENSP00000342954:R59H	R	-	2	0	ATP2B2	10466052	0.948000	0.32251	1.000000	0.80357	0.987000	0.75469	1.600000	0.36762	2.275000	0.75901	0.462000	0.41574	CGC		0.562	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		T	10491052	C	T	10491052	3	4	6	1	0	0	0	0	1	0	0	0	1140	768	27	1	3643	1	ATP2B2	3	10491052	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	10123304	10491052	187531378	12	365											
ZNF385D	79750	broad.mit.edu	37	chr3	21706493	21706493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggacggacaagggccGggagagcaggactctggcat	9	5	18	9	2	1	1	0	0	1	1	1	5	1	4	1	7	1	2	1	7	1	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:21706493G>A	ENST00000281523.2	-	2	568	c.50C>T	c.(49-51)cCg>cTg	p.P17L	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	17						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACAAGGGCCGGGAGAGCAGG	0.517																																						uc003cce.3																			0		p.L16I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(49-51)cCg>cTg		Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							71	67	68					3																	21706493		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706493G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.50C>T	3.37:g.21706493G>A	ENSP00000281523:p.Pro17Leu					ZNF385D_uc010hfb.1_Intron	p.P17L	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			1	458	-			17						Missense_Mutation	SNP	ENST00000281523.2	37	c.50C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612520	0.66672	.	.	ENSG00000151789	ENST00000281523	T	0.36699	1.24	5.62	5.62	0.85841	.	0.062950	0.64402	D	0.000005	T	0.20088	0.0483	L	0.28014	0.82	0.53688	D	0.999973	P	0.47545	0.897	B	0.31686	0.134	T	0.19063	-1.0317	10	0.02654	T	1	-3.3425	18.6348	0.91372	0.0:0.0:1.0:0.0	.	17	Q9H6B1	Z385D_HUMAN	L	17	ENSP00000281523:P17L	ENSP00000281523:P17L	P	-	2	0	ZNF385D	21681497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.114000	0.77103	2.651000	0.90000	0.591000	0.81541	CCG		0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		A	21706493	G	A	21706493	3	1	6	1	0	0	0	0	1	0	0	0	17875	1116	39	2	1165	2	ZNF385D	3	21706493	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	11215441	21706493	176315937	13	366											
TOMM70A	9868	broad.mit.edu	37	chr3	100105109	100105109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcatgggcttttgcaCgtctaaagagagctttcaca	9	13	9	10	1	3	1	2	0	2	1	4	2	3	1	0	1	2	4	0	1	2	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:100105109C>T	ENST00000284320.5	-	3	1026	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	193					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGCTTTTGCACGTCTAAAGAG	0.323																																						uc003dtw.3																			0		p.R193C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(577-579)cGt>cAt		Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.							169	165	167					3																	100105109		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105109C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.578G>A	3.37:g.100105109C>T	ENSP00000284320:p.Arg193His						p.R193H	NM_014820	NP_055635	O94826	TOM70_HUMAN			2	1027	-			193					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.578G>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176089	0.94846	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.76578	-1.03	6.07	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90216	0.4268	10	0.66056	D	0.02	-9.6723	15.8057	0.78506	0.0:0.9341:0.0:0.0659	.	193	O94826	TOM70_HUMAN	H	193;86	ENSP00000284320:R193H	ENSP00000284320:R193H	R	-	2	0	TOMM70A	101587799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	CGT		0.323	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			T	100105109	C	T	100105109	3	4	6	1	0	0	0	0	1	0	0	0	16359	536	19	1	1288	1	TOMM70A	3	100105109	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	78398616	100105109	97917321	14	367											
LRRC31	79782	broad.mit.edu	37	chr3	169572742	169572742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagatctaatttcctcaGctcacccaaatacctaaaag	16	9	5	11	0	3	1	2	0	1	1	4	2	4	2	3	1	2	1	3	1	6	4	rs555692167		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:169572742G>T	ENST00000316428.5	-	6	907	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L228M|LRRC31_ENST00000523069.1_Missense_Mutation_p.L284M	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	284										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AATTTCCTCAGCTCACCCAAA	0.458																																						uc003fgc.1																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(850-852)Ctg>Atg		Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.							103	94	97					3																	169572742		1891	4112	6003	SO:0001583	missense	79782							g.chr3:169572742G>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.850C>A	3.37:g.169572742G>T	ENSP00000325978:p.Leu284Met					LRRC31_uc010hwp.1_Missense_Mutation_p.L228M	p.L284M	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		5	915	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		284					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.850C>A	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564417	0.45694	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.71103	-0.54;-0.54;-0.54	4.57	2.44	0.29823	.	0.000000	0.64402	D	0.000003	T	0.79040	0.4379	M	0.71581	2.175	0.24859	N	0.992359	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66563	-0.5892	10	0.54805	T	0.06	1.458	6.599	0.22691	0.4138:0.0:0.5862:0.0	.	228;284	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	M	284;228;284	ENSP00000325978:L284M;ENSP00000264676:L228M;ENSP00000429145:L284M	ENSP00000264676:L228M	L	-	1	2	LRRC31	171055436	0.991000	0.36638	0.060000	0.19600	0.792000	0.44763	2.409000	0.44583	0.926000	0.37118	0.561000	0.74099	CTG		0.458	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		T	169572742	G	T	169572742	3	4	6	1	0	0	0	0	1	0	0	0	8986	962	34	5	824	5	LRRC31	3	169572742	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	69467633	169572742	28449688	15	368											
PLD1	5337	broad.mit.edu	37	chr3	171426553	171426553	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatactaaccaccagtcTgtgataaaaatctcttcatt	16	12	3	10	0	3	1	1	1	2	0	4	1	3	1	2	0	2	0	2	0	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:171426553T>C	ENST00000351298.4	-	11	1263	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	PLD1_ENST00000342215.6_Silent_p.T379T|PLD1_ENST00000356327.5_Silent_p.T379T|PLD1_ENST00000340989.4_Silent_p.T379T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	379					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACCAGTCTGTGATAAAAA	0.348																																					NSCLC(149;2174 3517 34058)	uc003fhs.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1135-1137)acA>acG		Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	Choline(DB00122)						156	156	156					3																	171426553		2201	4300	6501	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171426553T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1137A>G	3.37:g.171426553T>C						PLD1_uc003fht.3_Silent_p.T379T	p.T379T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1484	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		379						Silent	SNP	ENST00000351298.4	37	c.1137A>G	CCDS3216.1																																																																																				0.348	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		C	171426553	T	C	171426553	2	2	6	1	0	0	0	0	0	0	0	1	12045	1567	55	4		4	PLD1	3	171426553	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08	1853811	171426553	26595877	16	369											
KCTD8	386617	broad.mit.edu	37	chr4	44176993	44176993	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgagggtctgaaaGagttcactgtttctgcgttt	7	16	12	6	1	3	4	1	3	2	1	3	4	3	4	0	1	2	4	0	1	1	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:44176993G>T	ENST00000360029.3	-	2	1519	c.1236C>A	c.(1234-1236)ctC>ctA	p.L412L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	412					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGGTCTGAAAGAGTTCACTGT	0.438										HNSCC(17;0.042)																												uc003gwu.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1234-1236)ctC>ctA		Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.							219	227	224					4																	44176993		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176993G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1236C>A	4.37:g.44176993G>T		HNSCC(17;0.042)					p.L412L	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	1520	-			412					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1236C>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.819014	0.00595	.	.	ENSG00000183783	ENST00000515268	.	.	.	4.76	3.88	0.44766	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67432	-0.5672	4	.	.	.	.	13.5378	0.61655	0.0:0.0:0.8431:0.1569	.	.	.	.	Y	148	.	.	S	-	2	0	KCTD8	43871750	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.291000	0.43540	1.290000	0.44636	0.650000	0.86243	TCT		0.438	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			T	44176993	G	T	44176993	2	4	6	1	0	0	0	0	0	0	0	1	8115	929	33	5		5	KCTD8	4	44176993	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		44176993	146977283	17	370											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175150	73175150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaaatgtccccttcaCggttcggcagtgggaattat	8	13	11	9	2	2	0	1	0	1	0	4	1	3	1	2	4	0	3	2	4	4	4	rs552175669		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:73175150C>T	ENST00000286657.4	-	15	2179	c.2143G>A	c.(2143-2145)Gtg>Atg	p.V715M		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	715	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCCCTTCACGGTTCGGCAG	0.433																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0		p.V715V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2143-2145)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							131	122	125					4																	73175150		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73175150C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2143G>A	4.37:g.73175150C>T	ENSP00000286657:p.Val715Met					ADAMTS3_uc003hgl.3_Missense_Mutation_p.V56M	p.V715M	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		14	2180	-			715			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2143G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872892	0.91664	.	.	ENSG00000156140	ENST00000286657	T	0.70164	-0.46	5.53	5.53	0.82687	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	D	0.84584	0.5504	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85814	0.1381	10	0.62326	D	0.03	.	19.8115	0.96547	0.0:1.0:0.0:0.0	.	715	O15072	ATS3_HUMAN	M	715	ENSP00000286657:V715M	ENSP00000286657:V715M	V	-	1	0	ADAMTS3	73394014	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.742000	0.68646	2.751000	0.94390	0.557000	0.71058	GTG		0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			T	73175150	C	T	73175150	3	4	6	1	0	0	0	0	1	0	0	0	267	536	19	1	1506	1	ADAMTS3	4	73175150	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	28998157	73175150	117979126	18	371											
UGT3A2	167127	broad.mit.edu	37	chr5	36048994	36048994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggttcacttacttgTggtactggtttaataggttt	7	17	12	5	0	1	1	1	1	0	0	1	1	1	1	0	4	2	5	0	4	4	8			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:36048994T>C	ENST00000282507.3	-	4	941	c.840A>G	c.(838-840)ccA>ccG	p.P280P	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.P246P	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	280					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTACTTGTGGTACTGGTT	0.463																																						uc003jjz.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(838-840)ccA>ccG		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.							106	103	104					5																	36048994		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36048994T>C		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.840A>G	5.37:g.36048994T>C						UGT3A2_uc011cos.2_Silent_p.P246P|UGT3A2_uc011cot.2_Intron	p.P280P	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	972	-	all_lung(31;0.000179)		280					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.840A>G	CCDS3914.1																																																																																				0.463	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		C	36048994	T	C	36048994	2	2	6	1	0	0	0	0	0	0	0	1	16961	1683	59	4		4	UGT3A2	5	36048994	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08		36048994	144866266	19	372											
NNT	23530	broad.mit.edu	37	chr5	43653189	43653189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacccagggaacagcaCgtcttggcaatgcactgggc	9	7	11	14	1	2	0	0	0	2	0	3	1	2	1	2	3	3	3	2	3	2	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:43653189C>A	ENST00000264663.5	+	14	2154	c.1933C>A	c.(1933-1935)Cgt>Agt	p.R645S	NNT_ENST00000512996.2_Missense_Mutation_p.R514S|NNT_ENST00000344920.4_Missense_Mutation_p.R645S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	645					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGGAACAGCACGTCTTGGCAA	0.542																																						uc003joe.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1933-1935)Cgt>Agt		Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						97	89	92					5																	43653189		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43653189C>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1933C>A	5.37:g.43653189C>A	ENSP00000264663:p.Arg645Ser					NNT_uc003jof.3_Missense_Mutation_p.R645S	p.R645S	NM_012343	NP_892022	Q13423	NNTM_HUMAN			13	2188	+	Lung NSC(6;2.58e-06)		645					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1933C>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544756	0.96488	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92495	-3.05;-3.05;-3.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97273	0.9912	10	0.87932	D	0	-12.9606	20.4192	0.99033	0.0:1.0:0.0:0.0	.	645	Q13423	NNTM_HUMAN	S	160;645;645;514	ENSP00000264663:R645S;ENSP00000343873:R645S;ENSP00000426343:R514S	ENSP00000264663:R645S	R	+	1	0	NNT	43688946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	CGT		0.542	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43653189	C	A	43653189	3	1	6	1	0	0	0	0	1	0	0	0	10510	536	19	5	1983	5	NNT	5	43653189	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	7604195	43653189	137262071	20	373											
GFRAL	389400	broad.mit.edu	37	chr6	55223736	55223736	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcagcgtgtgactagaaAgtgccatgaagatgagaatt	13	9	13	6	1	0	5	0	3	0	3	0	6	0	5	1	1	2	1	1	1	4	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr6:55223736A>T	ENST00000340465.2	+	6	838	c.752A>T	c.(751-753)aAg>aTg	p.K251M		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	251					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGACTAGAAAGTGCCATGAA	0.393																																						uc003pcm.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(751-753)aAg>aTg		Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.							171	148	156					6																	55223736		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223736A>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.752A>T	6.37:g.55223736A>T	ENSP00000343636:p.Lys251Met						p.K251M	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	838	+	Lung NSC(77;0.0875)|Renal(3;0.122)		251					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.752A>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156097	0.57259	.	.	ENSG00000187871	ENST00000340465	T	0.65916	-0.18	5.8	3.35	0.38373	GDNF/GAS1 (2);	0.347917	0.29631	N	0.011610	T	0.60209	0.2251	M	0.63843	1.955	0.25738	N	0.985194	D	0.89917	1.0	D	0.75020	0.985	T	0.55835	-0.8078	10	0.66056	D	0.02	-8.5793	6.9663	0.24625	0.6436:0.2839:0.0725:0.0	.	251	Q6UXV0	GFRAL_HUMAN	M	251	ENSP00000343636:K251M	ENSP00000343636:K251M	K	+	2	0	GFRAL	55331695	0.986000	0.35501	0.569000	0.28460	0.906000	0.53458	0.687000	0.25407	0.432000	0.26286	0.528000	0.53228	AAG		0.393	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		T	55223736	A	T	55223736	3	4	6	1	0	0	0	0	1	0	0	0	6351	72	3	5	774	5	GFRAL	6	55223736	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		55223736	115891331	21	374											
CCDC146	57639	broad.mit.edu	37	chr7	76883866	76883866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaaagaatttgagaagAtaacaaagccaggagtaagt	20	8	10	3	0	0	3	0	1	0	3	0	5	0	4	1	1	2	2	1	1	8	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:76883866A>T	ENST00000285871.4	+	5	620	c.493A>T	c.(493-495)Ata>Tta	p.I165L	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	165										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTTGAGAAGATAACAAAGCC	0.279																																						uc003uga.3																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(493-495)Ata>Tta		Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.							59	62	61					7																	76883866		2201	4300	6501	SO:0001583	missense	57639							g.chr7:76883866A>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.493A>T	7.37:g.76883866A>T	ENSP00000285871:p.Ile165Leu						p.I165L	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			4	620	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	165					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.493A>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769901	0.49680	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	D	0.84800	-1.9	5.52	5.52	0.82312	.	0.109070	0.64402	D	0.000007	D	0.83018	0.5163	M	0.68317	2.08	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.78290	-0.2261	10	0.27082	T	0.32	-24.1272	13.899	0.63790	1.0:0.0:0.0:0.0	.	165	Q8IYE0	CC146_HUMAN	L	165	ENSP00000285871:I165L	ENSP00000285871:I165L	I	+	1	0	AC007000.1	76721802	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.016000	0.49607	2.227000	0.72691	0.455000	0.32223	ATA		0.279	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		T	76883866	A	T	76883866	3	4	6	1	0	0	0	0	1	0	0	0	2780	333	12	5	507	5	CCDC146	7	76883866	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		76883866	82254797	22	375											
SEMA3C	10512	broad.mit.edu	37	chr7	80387714	80387714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaataagggtcccgcgccaGgcagcagtcagcacaggctg	10	4	14	13	2	1	0	1	0	0	0	2	0	2	0	2	3	2	5	2	3	2	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:80387714G>C	ENST00000265361.3	-	15	2137	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.L526V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.L544V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	526					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCCGCGCCAGGCAGCAGTCA	0.522																																						uc011kgw.2																			0		p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1630-1632)Ctg>Gtg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							108	105	106					7																	80387714		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387714G>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1576C>G	7.37:g.80387714G>C	ENSP00000265361:p.Leu526Val					SEMA3C_uc003uhj.3_Missense_Mutation_p.L526V	p.L544V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1709	-			526					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1630C>G	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982229	0.74474	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.24908	1.83;1.83;1.83	5.47	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.70350	-0.4896	10	0.87932	D	0	.	12.3925	0.55366	0.1389:0.0:0.8611:0.0	.	544;526	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	526;526;544	ENSP00000265361:L526V;ENSP00000411193:L526V;ENSP00000445649:L544V	ENSP00000265361:L526V	L	-	1	2	SEMA3C	80225650	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.450000	0.52957	0.762000	0.33152	0.467000	0.42956	CTG		0.522	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		C	80387714	G	C	80387714	3	2	6	1	0	0	0	0	1	0	0	0	14026	991	35	5	695	5	SEMA3C	7	80387714	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	3503848	80387714	78750949	23	376											
PCLO	27445	broad.mit.edu	37	chr7	82532013	82532013	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttatttttatccttgcGtgaggaaagatgtagtgcat	9	17	10	5	1	0	2	0	1	0	1	1	3	1	3	1	1	2	3	1	1	4	7	rs377615400		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:82532013G>A	ENST00000333891.9	-	9	13819	c.13482C>T	c.(13480-13482)caC>caT	p.H4494H	PCLO_ENST00000423517.2_Silent_p.H4494H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTATCCTTGCGTGAGGAAAGA	0.303																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13480-13482)caC>caT		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							201	182	188					7																	82532013		1830	4086	5916	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82532013G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13482C>T	7.37:g.82532013G>A						PCLO_uc003uhv.2_Silent_p.H4494H	p.H4494H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13771	-			4425						Silent	SNP	ENST00000333891.9	37	c.13482C>T	CCDS47630.1																																																																																				0.303	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82532013	G	A	82532013	2	1	6	1	0	0	0	0	0	0	0	1	11583	1136	40	1		1	PCLO	7	82532013	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	2144299	82532013	76606650	24	377											
FIS1	51024	broad.mit.edu	37	chr7	100884131	100884131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccggtagttccccaCggccaggtagaagacgtaat	10	8	12	11	3	0	3	0	1	0	2	1	3	1	3	4	3	1	4	4	3	4	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:100884131C>T	ENST00000223136.4	-	3	315	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	FIS1_ENST00000442303.1_Missense_Mutation_p.R55H|CLDN15_ENST00000401528.1_5'Flank|CLDN15_ENST00000308344.5_5'Flank|FIS1_ENST00000474120.1_Missense_Mutation_p.R24H|FIS1_ENST00000482199.1_5'UTR	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	79					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TAGTTCCCCACGGCCAGGTAG	0.602																																						uc003uyj.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(235-237)Gtg>Atg		Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.							98	105	102					7																	100884131		2020	4156	6176	SO:0001583	missense	51024				apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	g.chr7:100884131C>T	AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"CGI-135 protein"	609003	"tetratricopeptide repeat domain 11", "fission 1 (mitochondrial outer membrane) homolog (yeast)"	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.235G>A	7.37:g.100884131C>T	ENSP00000223136:p.Val79Met					CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	p.V79M	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN			2	321	-	Lung NSC(181;0.168)|all_lung(186;0.215)		79					Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	c.235G>A	CCDS43626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320312|3.320312	0.60634|0.60634	.|.	.|.	ENSG00000214253|ENSG00000214253	ENST00000474120;ENST00000442303|ENST00000223136	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.52532	.|U	.|0.000075	T|T	0.78515|0.78515	0.4295|0.4295	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.64830	.|0.994	.|D	.|0.63033	.|0.91	T|T	0.81933|0.81933	-0.0706|-0.0706	6|9	0.87932|0.72032	D|D	0|0.01	.|.	15.9888|15.9888	0.80183|0.80183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|79	.|Q9Y3D6	.|FIS1_HUMAN	H|M	24;55|79	.|.	ENSP00000395964:R55H|ENSP00000223136:V79M	R|V	-|-	2|1	0|0	FIS1|FIS1	100670851|100670851	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	6.557000|6.557000	0.73937|0.73937	2.385000|2.385000	0.81259|0.81259	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.602	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1	NM_016068		T	100884131	C	T	100884131	3	4	6	1	0	0	0	0	1	0	0	0	5897	536	19	1	235	1	FIS1	7	100884131	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	18352118	100884131	58254532	25	378											
HIPK2	28996	broad.mit.edu	37	chr7	139281490	139281490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgtttctgttcctccTcctcgtccgtgtcactgctg	1	15	11	14	3	2	0	1	0	1	0	7	0	6	0	4	1	1	3	4	1	0	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:139281490T>C	ENST00000406875.3	-	12	2784	c.2690A>G	c.(2689-2691)gAg>gGg	p.E897G	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.E870G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	897	Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with TP53 and TP73.|Interaction with UBE2I. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGTTCCTCCTCCTCGTCCGT	0.602																																						uc003vvf.4																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2689-2691)gAg>gGg		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							126	138	134					7																	139281490		2201	4291	6492	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139281490T>C	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2690A>G	7.37:g.139281490T>C	ENSP00000385571:p.Glu897Gly					HIPK2_uc003vvd.4_Missense_Mutation_p.E870G	p.E897G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			11	2961	-	Melanoma(164;0.205)		897			Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2690A>G		.	.	.	.	.	.	.	.	.	.	T	19.73	3.881119	0.72294	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.26067	1.76;1.76	5.41	5.41	0.78517	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.58432	D	0.999995	D;P	0.63880	0.993;0.827	D;P	0.70227	0.968;0.526	T	0.49934	-0.8886	8	0.45353	T	0.12	.	15.612	0.76733	0.0:0.0:0.0:1.0	.	897;870	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	G	897;870	ENSP00000385571:E897G;ENSP00000413724:E870G	ENSP00000385571:E897G	E	-	2	0	HIPK2	138932030	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.326000	0.79133	2.281000	0.76405	0.533000	0.62120	GAG		0.602	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139281490	T	C	139281490	3	2	6	1	0	0	0	0	1	0	0	0	7117	1551	54	4	922	4	HIPK2	7	139281490	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	38397359	139281490	19857173	26	379											
TRPV6	55503	broad.mit.edu	37	chr7	142571454	142571454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggtcctctgtctggAagatgatatagaaggctgct	8	11	13	9	1	2	3	0	1	2	2	4	4	3	4	2	4	1	2	2	4	4	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:142571454A>G	ENST00000359396.3	-	13	1780	c.1535T>C	c.(1534-1536)tTc>tCc	p.F512S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	512					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCTGTCTGGAAGATGATATA	0.597																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1534-1536)tTc>tCc		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							155	148	150					7																	142571454		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571454A>G	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1535T>C	7.37:g.142571454A>G	ENSP00000352358:p.Phe512Ser					TRPV6_uc003wbw.1_Missense_Mutation_p.F298S|TRPV6_uc010lou.1_Missense_Mutation_p.F383S	p.F512S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			12	1764	-	Melanoma(164;0.059)		512					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1535T>C	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111576	0.77210	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.87571	-2.27	5.43	5.43	0.79202	Ion transport (1);	0.109374	0.64402	D	0.000004	D	0.94056	0.8095	M	0.89095	3.005	0.54753	D	0.999984	D	0.76494	0.999	D	0.81914	0.995	D	0.94376	0.7600	10	0.48119	T	0.1	-35.5833	14.6626	0.68882	1.0:0.0:0.0:0.0	.	512	Q9H1D0	TRPV6_HUMAN	S	512;344	ENSP00000352358:F512S	ENSP00000310825:F344S	F	-	2	0	TRPV6	142281576	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.918000	0.63376	2.043000	0.60533	0.533000	0.62120	TTC		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		G	142571454	A	G	142571454	3	3	6	1	0	0	0	0	1	0	0	0	16597	246	9	4	654	4	TRPV6	7	142571454	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	3289964	142571454	16567209	27	380											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594552	70594552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttgcagcttcctgtcagaTtcctatggggcatggtgaga	7	12	13	9	1	1	2	1	1	0	2	3	3	3	2	2	3	2	4	2	3	1	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:70594552T>C	ENST00000260126.4	-	7	2355	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.N495S|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.N550S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	550	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCTGTCAGATTCCTATGGGG	0.403																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1648-1650)aAt>aGt		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							133	122	125					8																	70594552		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594552T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1649A>G	8.37:g.70594552T>C	ENSP00000260126:p.Asn550Ser					SLCO5A1_uc010lzb.3_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.N550S	p.N550S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2356	-	Breast(64;0.0654)		550			Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1649A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783494	0.90282	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.62639	0.01;0.01;0.01	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.38326	U	0.001722	T	0.67163	0.2864	N	0.21097	0.63	0.58432	D	0.999997	D;P;P	0.69078	0.997;0.947;0.529	D;P;B	0.69142	0.962;0.634;0.112	T	0.65990	-0.6034	10	0.32370	T	0.25	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	495;550;550	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	S	550;550;495	ENSP00000260126:N550S;ENSP00000434422:N550S;ENSP00000431611:N495S	ENSP00000260126:N550S	N	-	2	0	SLCO5A1	70757106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.985000	0.88162	2.317000	0.78254	0.459000	0.35465	AAT		0.403	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		C	70594552	T	C	70594552	3	2	6	1	0	0	0	0	1	0	0	0	14731	1493	52	4	913	4	SLCO5A1	8	70594552	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		70594552	75769470	28	381											
FBXO43	286151	broad.mit.edu	37	chr8	101153144	101153144	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcatgaacagctcatgTaccaattgcaaggctggggt	10	12	10	9	0	2	1	2	1	0	0	2	1	2	1	1	3	4	4	1	3	4	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:101153144T>G	ENST00000428847.2	-	2	1654	c.1338A>C	c.(1336-1338)gtA>gtC	p.V446V		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	446					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACAGCTCATGTACCAATTGCA	0.433																																						uc003yjd.3																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1336-1338)gtA>gtC		Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.							142	133	136					8																	101153144		1849	4101	5950	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101153144T>G	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1338A>C	8.37:g.101153144T>G						FBXO43_uc003yje.3_Silent_p.V412V|FBXO43_uc010mbp.2_Silent_p.V446V	p.V446V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		1	2074	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		446						Silent	SNP	ENST00000428847.2	37	c.1338A>C	CCDS47904.1																																																																																				0.433	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		G	101153144	T	G	101153144	2	3	6	1	0	0	0	0	0	0	0	1	5752	1625	57	5		5	FBXO43	8	101153144	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08	30558592	101153144	45210878	29	382											
FZD6	8323	broad.mit.edu	37	chr8	104337555	104337555	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacatgatggccggaaccaAgaaaaactaaagaaatttat	20	7	7	7	1	0	3	0	1	0	2	0	4	0	4	2	2	3	0	2	2	9	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:104337555A>G	ENST00000358755.4	+	4	1538	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	FZD6_ENST00000523739.1_Silent_p.Q375Q|FZD6_ENST00000522566.1_Silent_p.Q407Q|FZD6_ENST00000540287.1_Silent_p.Q102Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	407					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCCGGAACCAAGAAAAACTAA	0.408																																						uc003ylh.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1219-1221)caA>caG		Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.							154	149	150					8																	104337555		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337555A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1221A>G	8.37:g.104337555A>G						FZD6_uc011lhn.2_Silent_p.Q375Q|FZD6_uc003ylj.3_Silent_p.Q407Q|FZD6_uc011lho.2_Silent_p.Q102Q|FZD6_uc011lhp.2_Silent_p.Q352Q	p.Q407Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	1511	+			407					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1221A>G	CCDS6298.1																																																																																				0.408	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		G	104337555	A	G	104337555	2	3	6	1	0	0	0	0	0	0	0	1	6134	69	3	4		4	FZD6	8	104337555	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	3184411	104337555	42026467	30	383											
TTC35	9694	broad.mit.edu	37	chr8	109468130	109468130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctatacagctatatgatAggattttacaagaagatcca	16	12	7	6	0	0	3	0	1	0	2	1	4	1	4	1	1	4	2	1	1	8	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:109468130A>G	ENST00000220853.3	+	5	369	c.334A>G	c.(334-336)Agg>Ggg	p.R112G		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	112						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GCTATATGATAGGATTTTACA	0.234																																						uc003ymw.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15						c.(334-336)Agg>Ggg		Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.							18	21	20					8																	109468130		2125	4144	6269	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109468130A>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.334A>G	8.37:g.109468130A>G	ENSP00000220853:p.Arg112Gly						p.R112G	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		4	369	+			112					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.334A>G	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.47|12.47	1.948537|1.948537	0.34377|0.34377	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000519642|ENST00000220853	.|T	.|0.68331	.|-0.32	5.62|5.62	1.45|1.45	0.22620|0.22620	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.121562	.|0.56097	.|D	.|0.000033	T|T	0.42131|0.42131	0.1189|0.1189	N|N	0.05124|0.05124	-0.11|-0.11	0.44424|0.44424	D|D	0.997345|0.997345	.|B	.|0.09022	.|0.002	.|B	.|0.17433	.|0.018	T|T	0.15292|0.15292	-1.0442|-1.0442	5|10	.|0.38643	.|T	.|0.18	-6.2217|-6.2217	10.2295|10.2295	0.43247|0.43247	0.4458:0.484:0.0:0.0702|0.4458:0.484:0.0:0.0702	.|.	.|112	.|Q15006	.|TTC35_HUMAN	M|G	59|112	.|ENSP00000220853:R112G	.|ENSP00000220853:R112G	I|R	+|+	3|1	3|2	TTC35|TTC35	109537306|109537306	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	0.742000|0.742000	0.26216|0.26216	0.367000|0.367000	0.24454|0.24454	-0.321000|-0.321000	0.08615|0.08615	ATA|AGG		0.234	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		G	109468130	A	G	109468130	3	3	6	1	0	0	0	0	1	0	0	0	16700	411	15	4	352	4	TTC35	8	109468130	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	5130575	109468130	36895892	31	384											
TAF2	6873	broad.mit.edu	37	chr8	120744252	120744252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttttctttactgtcaTgcttatgcttgtgtttgtgc	3	22	8	8	0	2	0	1	0	1	0	3	0	3	0	1	0	4	3	1	0	2	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:120744252T>C	ENST00000378164.2	-	26	3810	c.3512A>G	c.(3511-3513)cAt>cGt	p.H1171R		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1171	His-rich.|Lys-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTACTGTCATGCTTATGCTT	0.458																																						uc003you.3																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3511-3513)cAt>cGt		Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.							485	400	429					8																	120744252		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120744252T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3512A>G	8.37:g.120744252T>C	ENSP00000367406:p.His1171Arg						p.H1171R	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	3782	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1171			His-rich.|Lys-rich.		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3512A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.964008	0.34659	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.62232	0.92;0.04	6.02	3.67	0.42095	.	0.053480	0.85682	N	0.000000	T	0.43122	0.1233	L	0.29908	0.895	0.52501	D	0.999955	B	0.33694	0.421	B	0.26864	0.074	T	0.17745	-1.0359	10	0.27082	T	0.32	-8.156	8.538	0.33375	0.0:0.1494:0.0:0.8506	.	1171	Q6P1X5	TAF2_HUMAN	R	1171;347	ENSP00000367406:H1171R;ENSP00000436750:H347R	ENSP00000367406:H1171R	H	-	2	0	TAF2	120813433	1.000000	0.71417	0.074000	0.20217	0.938000	0.57974	4.403000	0.59729	0.527000	0.28560	0.528000	0.53228	CAT		0.458	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		C	120744252	T	C	120744252	3	2	6	1	0	0	0	0	1	0	0	0	15521	1464	51	4	91	4	TAF2	8	120744252	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	11276122	120744252	25619770	32	385											
SLC35D2	11046	broad.mit.edu	37	chr9	99084300	99084300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatatttaaccctacaaaGtttaacaaagagaaaatgta	21	10	4	6	0	0	1	0	0	0	1	0	2	0	1	1	0	3	2	1	0	10	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:99084300G>A	ENST00000253270.7	-	11	956	c.894C>T	c.(892-894)aaC>aaT	p.N298N	SLC35D2_ENST00000375259.4_Silent_p.N210N	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	298					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCTACAAAGTTTAACAAAG	0.343																																						uc004awc.3																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(892-894)aaC>aaT		Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.							78	84	82					9																	99084300		2203	4300	6503	SO:0001819	synonymous_variant	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99084300G>A	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.894C>T	9.37:g.99084300G>A						SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.N210N	p.N298N	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN			10	970	-		Acute lymphoblastic leukemia(62;0.0167)	298					O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	ENST00000253270.7	37	c.894C>T	CCDS6717.1																																																																																				0.343	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			A	99084300	G	A	99084300	2	1	6	1	0	0	0	0	0	0	0	1	14582	1020	36	3		3	SLC35D2	9	99084300	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		99084300	42129131	33	386											
RALGDS	5900	broad.mit.edu	37	chr9	135983521	135983521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctggagctggctccaGctctagagtttgtgagggag	6	11	17	7	0	1	2	0	1	1	1	2	4	2	4	1	4	3	5	1	4	1	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:135983521G>T	ENST00000372050.3	-	6	1072	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.L422M|RALGDS_ENST00000393157.3_Missense_Mutation_p.L350M|RALGDS_ENST00000372047.3_Missense_Mutation_p.L339M|RALGDS_ENST00000372062.3_Missense_Mutation_p.L322M|RALGDS_ENST00000393160.3_Missense_Mutation_p.L296M	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	351					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGGCTCCAGCTCTAGAGTT	0.582			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1051-1053)Ctg>Atg		Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.							62	65	64					9																	135983521		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983521G>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1051C>A	9.37:g.135983521G>T	ENSP00000361120:p.Leu351Met					RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.L339M|RALGDS_uc004ccr.3_Missense_Mutation_p.L350M|RALGDS_uc011mcv.2_Missense_Mutation_p.L322M|RALGDS_uc004ccs.3_Missense_Mutation_p.L296M|RALGDS_uc011mcw.2_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	p.L351M	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	5	1071	-			351					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1051C>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279004	0.59758	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.39056	1.59;1.1;1.6;1.58;1.75;1.1	4.88	3.98	0.46160	Ras guanine nucleotide exchange factor, domain (1);	1.713420	0.02859	N	0.130083	T	0.60676	0.2287	L	0.46157	1.445	0.18873	N	0.999989	D;D;D;D;D;D;D;D	0.76494	0.965;0.998;0.999;0.996;0.994;0.998;0.998;0.998	P;D;D;P;P;D;D;D	0.80764	0.748;0.986;0.994;0.804;0.876;0.986;0.986;0.986	T	0.38415	-0.9662	10	0.56958	D	0.05	.	9.6494	0.39888	0.0991:0.0:0.9009:0.0	.	422;322;351;339;296;350;339;351	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	M	351;339;296;120;350;422;322	ENSP00000361120:L351M;ENSP00000361117:L339M;ENSP00000376867:L296M;ENSP00000376864:L350M;ENSP00000437518:L422M;ENSP00000361132:L322M	ENSP00000361117:L339M	L	-	1	2	RALGDS	134973342	0.112000	0.22096	0.091000	0.20842	0.022000	0.10575	2.706000	0.47135	1.383000	0.46405	0.655000	0.94253	CTG		0.582	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		T	135983521	G	T	135983521	3	4	6	1	0	0	0	0	1	0	0	0	13016	962	34	5	1745	5	RALGDS	9	135983521	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	36899221	135983521	5229910	34	387											
ANKRD26	22852	broad.mit.edu	37	chr10	27350076	27350076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattttttttccatacccaTgtgggctactggcatgccta	7	15	8	11	0	0	0	0	0	0	0	1	0	1	0	3	2	3	3	3	2	3	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:27350076T>C	ENST00000376087.4	-	13	1624	c.1459A>G	c.(1459-1461)Atg>Gtg	p.M487V	ANKRD26_ENST00000436985.2_Intron	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	487					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCATACCCATGTGGGCTACT	0.348																																						uc009xku.1																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1459-1461)Atg>Gtg		Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.							175	170	172					10																	27350076		1853	4099	5952	SO:0001583	missense	22852					centrosome		g.chr10:27350076T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1459A>G	10.37:g.27350076T>C	ENSP00000365255:p.Met487Val					ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.M487V	p.M487V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			12	1631	-			487					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1459A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688764	0.29962	.	.	ENSG00000107890	ENST00000376087	T	0.30448	1.53	4.77	-0.696	0.11287	.	.	.	.	.	T	0.18045	0.0433	L	0.47716	1.5	0.22581	N	0.998965	B;B	0.25312	0.123;0.075	B;B	0.18871	0.023;0.01	T	0.35699	-0.9778	9	0.02654	T	1	.	5.3836	0.16206	0.0:0.1676:0.2776:0.5548	.	487;487	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	V	487	ENSP00000365255:M487V	ENSP00000365255:M487V	M	-	1	0	ANKRD26	27390082	0.971000	0.33674	0.567000	0.28434	0.988000	0.76386	-0.160000	0.10041	-0.043000	0.13513	0.383000	0.25322	ATG		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			C	27350076	T	C	27350076	3	2	6	1	0	0	0	0	1	0	0	0	654	1464	51	4	3761	4	ANKRD26	10	27350076	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		27350076	108184671	35	388											
MPP7	143098	broad.mit.edu	37	chr10	28409253	28409254	+	Missense_Mutation	DNP	CA	CA	AG																															tccctttttgaaagaaagccCagcttccttacatggaattg																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:28409253_28409254CA>AG	ENST00000375732.1	-	10	1015_1016	c.756_757TG>CT	c.(754-759)gcTGgg>gcCTgg	p.G253W	MPP7_ENST00000375719.3_Missense_Mutation_p.G253W|MPP7_ENST00000540098.1_Missense_Mutation_p.G253W|MPP7_ENST00000337532.5_Missense_Mutation_p.G253W|MPP7_ENST00000445954.2_Missense_Mutation_p.G128W			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	253	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAGAAAGCCCAGCTTCCTTAC	0.406																																						uc001iua.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(754-759)gctggg>gcCTgg		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.																																				SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28409253_28409254CA>AG	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.756_757delinsAG	10.37:g.28409253_28409254delinsAG	ENSP00000364884:p.Gly253Trp					MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G253W|MPP7_uc009xla.2_Missense_Mutation_p.G253W|MPP7_uc010qdv.1_Non-coding_Transcript	p.G253W	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			11	1160_1161	-			253			SH3.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	DNP	ENST00000375732.1	37	c.756_757TG>CT	CCDS7158.1																																																																																				0.406	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		AG	28409254	CA	AG	28409253	3	1	6	1	0	0	0	0	1	0	0	0	9739	594	21	5	1005	5	MPP7	10	28409253	Missense_Mutation	DNP	CA	TCGA-02-2483-01A-01D-1494-08	1059177	28409253	107125494	36	389											
BMS1	9790	broad.mit.edu	37	chr10	43316067	43316067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccactgtattatatcgaaGaccacaatggaagacaaagg	16	8	8	9	1	0	2	0	0	0	2	2	4	1	3	2	2	0	1	2	2	7	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:43316067G>C	ENST00000374518.5	+	17	2944	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	961					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTATATCGAAGACCACAATGG	0.428																																						uc001jaj.3																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2881-2883)Gac>Cac		Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.							53	55	54					10																	43316067		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316067G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2881G>C	10.37:g.43316067G>C	ENSP00000363642:p.Asp961His						p.D961H	NM_014753	NP_055568	Q14692	BMS1_HUMAN			16	3239	+			961					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2881G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371577	0.82573	.	.	ENSG00000165733	ENST00000374518	T	0.17691	2.26	4.97	4.97	0.65823	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66622	-0.5877	10	0.72032	D	0.01	.	18.6504	0.91429	0.0:0.0:1.0:0.0	.	961	Q14692	BMS1_HUMAN	H	961	ENSP00000363642:D961H	ENSP00000363642:D961H	D	+	1	0	BMS1	42636073	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.344000	0.97050	2.470000	0.83445	0.454000	0.30748	GAC		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		C	43316067	G	C	43316067	3	2	6	1	0	0	0	0	1	0	0	0	1472	942	33	5	2943	5	BMS1	10	43316067	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	14906814	43316067	92218680	37	390											
BICC1	80114	broad.mit.edu	37	chr10	60553292	60553292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaggaagaaattgaaGtagatccacaattcattgcg	17	10	9	5	1	1	4	1	2	0	2	2	5	2	5	1	1	1	1	1	1	7	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:60553292G>A	ENST00000373886.3	+	9	1100	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I	BICC1_ENST00000263103.1_5'Flank	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	366					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAATTGAAGTAGATCCACA	0.368																																						uc001jki.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1096-1098)Gta>Ata		Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.							161	147	152					10																	60553292		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60553292G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1096G>A	10.37:g.60553292G>A	ENSP00000362993:p.Val366Ile					BICC1_uc001jkj.1_Missense_Mutation_p.V7I	p.V366I	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			8	1096	+			366						Missense_Mutation	SNP	ENST00000373886.3	37	c.1096G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085779	0.55861	.	.	ENSG00000122870	ENST00000373886	T	0.31510	1.49	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.62723	1.935	0.80722	D	1	B;P	0.38020	0.007;0.615	B;B	0.29267	0.004;0.1	T	0.08534	-1.0717	10	0.23891	T	0.37	-15.7472	19.9664	0.97271	0.0:0.0:1.0:0.0	.	286;366	E7EU62;Q9H694	.;BICC1_HUMAN	I	366	ENSP00000362993:V366I	ENSP00000362993:V366I	V	+	1	0	BICC1	60223298	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.668000	0.74457	2.718000	0.92993	0.655000	0.94253	GTA		0.368	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		A	60553292	G	A	60553292	3	1	6	1	0	0	0	0	1	0	0	0	1427	1029	36	3	1130	3	BICC1	10	60553292	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	17237225	60553292	74981455	38	391											
OR5L1	219437	broad.mit.edu	37	chr11	55579759	55579759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtggagatgctgacaaaGtggccaccgtgttctacaca	12	9	11	9	1	1	2	0	1	1	1	1	3	1	2	2	2	2	2	2	2	3	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:55579759G>T	ENST00000333973.2	+	1	906	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGACAAAGTGGCCACCGT	0.473																																						uc001nhw.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(817-819)Gtg>Ttg		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							87	78	81					11																	55579759		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579759G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.817G>T	11.37:g.55579759G>T	ENSP00000335529:p.Val273Leu						p.V273L	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			0	817	+		all_epithelial(135;0.208)	273					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.817G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	18.20	3.571051	0.65765	.	.	ENSG00000186117	ENST00000333973	T	0.00249	8.44	4.12	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.00210	0.0006	L	0.33792	1.035	0.09310	N	1	P	0.50272	0.933	P	0.53102	0.718	T	0.48811	-0.9002	10	0.56958	D	0.05	-27.017	2.7871	0.05377	0.3164:0.0:0.4796:0.2039	.	273	Q8NGL2	OR5L1_HUMAN	L	273	ENSP00000335529:V273L	ENSP00000335529:V273L	V	+	1	0	OR5L1	55336335	0.000000	0.05858	0.015000	0.15790	0.575000	0.36095	-0.594000	0.05733	0.740000	0.32651	0.428000	0.28381	GTG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579759	G	T	55579759	3	4	6	1	0	0	0	0	1	0	0	0	11170	1029	36	5	819	5	OR5L1	11	55579759	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		55579759	79426757	39	392											
OR5B12	390191	broad.mit.edu	37	chr11	58207194	58207194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccacagatgtaggagcctAtggccaggcaagcacataca	15	5	10	11	0	0	1	0	0	0	1	0	2	0	2	3	3	4	3	3	3	5	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:58207194A>G	ENST00000302572.2	-	1	452	c.431T>C	c.(430-432)aTa>aCa	p.I144T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGAGCCTATGGCCAGGCA	0.463																																						uc010rkh.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(430-432)aTa>aCa		Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.							136	129	132					11																	58207194		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207194A>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.431T>C	11.37:g.58207194A>G	ENSP00000306657:p.Ile144Thr						p.I144T	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			0	453	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	144					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.431T>C	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	0.119	-1.128334	0.01770	.	.	ENSG00000172362	ENST00000302572	T	0.37915	1.17	4.44	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.469224	0.19689	N	0.108340	T	0.18759	0.0450	N	0.12887	0.27	0.09310	N	1	B	0.10296	0.003	B	0.21360	0.034	T	0.19943	-1.0290	10	0.28530	T	0.3	-9.6219	7.7287	0.28775	0.6566:0.0:0.3434:0.0	.	144	Q96R08	OR5BC_HUMAN	T	144	ENSP00000306657:I144T	ENSP00000306657:I144T	I	-	2	0	OR5B12	57963770	0.000000	0.05858	0.002000	0.10522	0.095000	0.18619	-0.046000	0.11983	0.338000	0.23692	0.379000	0.24179	ATA		0.463	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		G	58207194	A	G	58207194	3	3	6	1	0	0	0	0	1	0	0	0	11148	449	16	4	517	4	OR5B12	11	58207194	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	2627435	58207194	76799322	40	393											
IGHMBP2	3508	broad.mit.edu	37	chr11	68704092	68704092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcccagcctcaacggagGcagcccagagggagtggaga	11	3	15	12	1	2	2	2	0	0	2	2	5	2	4	3	4	4	1	3	4	1	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:68704092G>A	ENST00000255078.3	+	13	2255	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	715	SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAACGGAGGCAGCCCAGAG	0.617																																						uc001ook.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2143-2145)gGc>gAc		Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.							32	34	33					11																	68704092		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68704092G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2144G>A	11.37:g.68704092G>A	ENSP00000255078:p.Gly715Asp					IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	p.G715D	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		12	2246	+			715					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2144G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	2.103	-0.405714	0.04832	.	.	ENSG00000132740	ENST00000255078	D	0.89343	-2.5	3.83	2.62	0.31277	Single-stranded nucleic acid binding R3H (1);	3.467030	0.00447	N	0.000081	D	0.85961	0.5819	L	0.56769	1.78	0.30110	N	0.806652	B	0.06786	0.001	B	0.04013	0.001	T	0.65421	-0.6172	10	0.10636	T	0.68	-25.0199	6.669	0.23058	0.1897:0.0:0.8103:0.0	.	715	P38935	SMBP2_HUMAN	D	715	ENSP00000255078:G715D	ENSP00000255078:G715D	G	+	2	0	IGHMBP2	68460668	0.000000	0.05858	0.017000	0.16124	0.110000	0.19582	-0.145000	0.10265	0.663000	0.31027	0.561000	0.74099	GGC		0.617	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		A	68704092	G	A	68704092	3	1	6	1	0	0	0	0	1	0	0	0	7591	1203	42	3	2194	3	IGHMBP2	11	68704092	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	10496898	68704092	66302424	41	394											
TMEM133	83935	broad.mit.edu	37	chr11	100863381	100863381	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccctgcttcaaaatgtGccagttccacttggtaataa	11	12	6	12	0	1	0	1	0	0	0	3	0	3	0	4	1	2	3	4	1	4	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:100863381G>T	ENST00000303130.2	+	1	571	c.342G>T	c.(340-342)gtG>gtT	p.V114V		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	114						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTCAAAATGTGCCAGTTCCAC	0.373																																						uc001pgf.3																			0				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(340-342)gtG>gtT		Homo sapiens transmembrane protein 133 (TMEM133), mRNA.							147	141	143					11																	100863381		2203	4300	6503	SO:0001819	synonymous_variant	83935					integral to membrane		g.chr11:100863381G>T	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.342G>T	11.37:g.100863381G>T							p.V114V	NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	0	571	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	114						Silent	SNP	ENST00000303130.2	37	c.342G>T	CCDS8309.1																																																																																				0.373	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		T	100863381	G	T	100863381	2	4	6	1	0	0	0	0	0	0	0	1	16046	1306	46	5		5	TMEM133	11	100863381	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	32159289	100863381	34143135	42	395											
TAS2R9	50835	broad.mit.edu	37	chr12	10962585	10962585	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagccagtcaatgcagttAactagtacaatgaatccatt	14	12	7	8	0	1	2	1	2	0	0	2	2	2	2	2	0	4	3	2	0	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:10962585A>T	ENST00000240691.2	-	1	182	c.90T>A	c.(88-90)gtT>gtA	p.V30V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	30					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGCAGTTAACTAGTACAA	0.388																																						uc001qyx.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(88-90)gtT>gtA		Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.							89	86	87					12																	10962585		2203	4300	6503	SO:0001819	synonymous_variant	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962585A>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.90T>A	12.37:g.10962585A>T							p.V30V	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			0	183	-			30					Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	c.90T>A	CCDS8633.1																																																																																				0.388	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			T	10962585	A	T	10962585	2	4	6	1	0	0	0	0	0	0	0	1	15585	349	13	5		5	TAS2R9	12	10962585	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08		10962585	122889310	43	396											
BIN2	51411	broad.mit.edu	37	chr12	51685543	51685543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcccagtccccaaggaggcCctagggctggtgggtgaacc	7	6	15	13	0	0	1	0	1	0	0	2	2	2	2	5	5	1	1	5	5	3	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:51685543C>T	ENST00000267012.4	-	10	1408	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	BIN2_ENST00000604560.1_Silent_p.R422R|BIN2_ENST00000452142.2_Silent_p.R417R|BIN2_ENST00000544402.1_Silent_p.R423R	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	449	Pro-rich.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAAGGAGGCCCTAGGGCTGG	0.612																																						uc001ryg.3																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(1345-1347)agG>agA		Homo sapiens bridging integrator 2 (BIN2), mRNA.							29	33	32					12																	51685543		2203	4300	6503	SO:0001819	synonymous_variant	51411					cytoplasm	protein binding	g.chr12:51685543C>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1347G>A	12.37:g.51685543C>T						BIN2_uc009zlz.3_Silent_p.R417R|BIN2_uc001ryh.3_Silent_p.R325R|BIN2_uc010sng.2_Silent_p.R423R	p.R449R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			9	1399	-			449			Pro-rich.		Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	c.1347G>A	CCDS8811.1																																																																																				0.612	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			T	51685543	C	T	51685543	2	4	6	1	0	0	0	0	0	0	0	1	1433	622	22	3		3	BIN2	12	51685543	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	40722958	51685543	82166352	44	397											
R3HDM2	22864	broad.mit.edu	37	chr12	57648757	57648757	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccactgttgtcccccccAccccctccaggcagcccctg	4	7	7	23	0	0	0	0	0	0	0	3	0	3	0	9	1	1	2	9	1	0	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:57648757A>C	ENST00000347140.3	-	24	3120	c.2730T>G	c.(2728-2730)ggT>ggG	p.G910G	R3HDM2_ENST00000358907.2_Silent_p.G910G|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000402412.1_Silent_p.G924G|R3HDM2_ENST00000403821.2_Silent_p.G944G|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000441731.2_Silent_p.G605G			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	910	Poly-Gly.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCCCCCCCACCCCCTCCAG	0.632																																						uc009zpm.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(2728-2730)ggT>ggG		Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.							51	48	49					12																	57648757		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57648757A>C	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2730T>G	12.37:g.57648757A>C						R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G	p.G910G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			21	2765	-			910			Poly-Gly.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.2730T>G	CCDS8937.2																																																																																				0.632	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		C	57648757	A	C	57648757	2	2	6	1	0	0	0	0	0	0	0	1	12888	146	6	5		5	R3HDM2	12	57648757	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	5963214	57648757	76203138	45	398											
IRAK3	11213	broad.mit.edu	37	chr12	66638935	66638935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattcatgtctctcatttCtagataagaaagtgcctccc	10	14	7	10	0	4	2	2	0	2	2	6	3	5	3	2	1	1	0	2	1	3	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:66638935C>A	ENST00000261233.4	+	11	1628	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	IRAK3_ENST00000457197.2_Missense_Mutation_p.L342I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCTCTCATTTCTAGATAAGAA	0.478																																						uc001sth.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1207-1209)Cta>Ata		Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.							86	88	87					12																	66638935		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638935C>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1207C>A	12.37:g.66638935C>A	ENSP00000261233:p.Leu403Ile					IRAK3_uc010ssy.2_Missense_Mutation_p.L342I	p.L403I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1309	+			403			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1207C>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434485	0.43224	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.66099	-0.19;-0.19	5.89	-3.59	0.04583	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088939	0.46758	D	0.000270	T	0.51669	0.1688	L	0.48642	1.525	0.25525	N	0.987337	P;P	0.52692	0.944;0.955	P;P	0.47827	0.519;0.558	T	0.53585	-0.8418	9	.	.	.	-6.729	7.57	0.27902	0.0:0.3009:0.1237:0.5754	.	342;403	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	I	403;342	ENSP00000261233:L403I;ENSP00000409852:L342I	.	L	+	1	2	IRAK3	64925202	0.019000	0.18553	0.178000	0.23040	0.297000	0.27493	-0.688000	0.05150	-0.458000	0.07023	-0.291000	0.09656	CTA		0.478	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			A	66638935	C	A	66638935	3	1	6	1	0	0	0	0	1	0	0	0	7824	912	32	5	1249	5	IRAK3	12	66638935	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	8990178	66638935	67212960	46	399											
ATP11A	23250	broad.mit.edu	37	chr13	113510350	113510350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggaaatctgccggaGctgcagcgcggtgctctgct	5	10	13	13	3	2	0	0	0	2	0	3	2	3	2	2	3	6	4	2	3	1	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr13:113510350G>A	ENST00000487903.1	+	20	2457	c.2369G>A	c.(2368-2370)aGc>aAc	p.S790N	ATP11A_ENST00000375645.3_Missense_Mutation_p.S790N|ATP11A_ENST00000283558.8_Missense_Mutation_p.S790N|ATP11A_ENST00000375630.2_Missense_Mutation_p.S790N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	790					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTGCCGGAGCTGCAGCGCG	0.597																																						uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2368-2370)aGc>aAc		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							74	82	79					13																	113510350		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113510350G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2369G>A	13.37:g.113510350G>A	ENSP00000420387:p.Ser790Asn					ATP11A_uc001vsi.4_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.3_Non-coding_Transcript	p.S790N	NM_032189	NP_115565	P98196	AT11A_HUMAN			19	2457	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	790					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.2369G>A	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.036|7.036	0.561504|0.561504	0.13498|0.13498	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.|D;D;D;D	.|0.85013	.|-1.93;-1.93;-1.93;-1.93	5.39|5.39	4.22|4.22	0.49857|0.49857	.|HAD-like domain (1);	.|0.041017	.|0.85682	.|N	.|0.000000	T|T	0.59224|0.59224	0.2178|0.2178	N|N	0.01009|0.01009	-1.055|-1.055	0.30491|0.30491	N|N	0.771408|0.771408	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.002;0.001	T|T	0.53457|0.53457	-0.8436|-0.8436	5|10	.|0.10636	.|T	.|0.68	.|.	10.4481|10.4481	0.44505|0.44505	0.9221:0.0:0.0779:0.0|0.9221:0.0:0.0779:0.0	.|.	.|790;790;790	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	T|N	765|790;790;790;790;231	.|ENSP00000420387:S790N;ENSP00000364781:S790N;ENSP00000364796:S790N;ENSP00000283558:S790N	.|ENSP00000283558:S790N	A|S	+|+	1|2	0|0	ATP11A|ATP11A	112558351|112558351	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.849000|0.849000	0.48306|0.48306	6.788000|6.788000	0.75105|0.75105	0.896000|0.896000	0.36366|0.36366	-0.367000|-0.367000	0.07326|0.07326	GCT|AGC		0.597	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113510350	G	A	113510350	3	1	6	1	0	0	0	0	1	0	0	0	1119	971	34	3	2447	3	ATP11A	13	113510350	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		113510350	1659528	47	400											
DCAF11	80344	broad.mit.edu	37	chr14	24588926	24588926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcgcctagattgagTcccatgaggatgatgtgaat	9	14	10	8	1	0	5	0	4	0	1	3	6	2	6	3	1	0	0	3	1	2	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr14:24588926T>C	ENST00000446197.3	+	11	1640	c.913T>C	c.(913-915)Tcc>Ccc	p.S305P	DCAF11_ENST00000559115.1_Missense_Mutation_p.S305P|DCAF11_ENST00000396936.1_Missense_Mutation_p.S205P|DCAF11_ENST00000396941.4_Missense_Mutation_p.S279P|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	305					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											CTAGATTGAGTCCCATGAGGA	0.483																																						uc001wlv.3																			0											c.(913-915)Tcc>Ccc		Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.							109	100	103					14																	24588926		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588926T>C	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.913T>C	14.37:g.24588926T>C	ENSP00000415556:p.Ser305Pro					DCAF11_uc001wlw.3_Missense_Mutation_p.S305P|DCAF11_uc001wlz.3_Missense_Mutation_p.S205P|DCAF11_uc001wly.3_Missense_Mutation_p.S261P|DCAF11_uc010tny.2_Missense_Mutation_p.S172P|DCAF11_uc001wmc.3_Missense_Mutation_p.S205P|DCAF11_uc001wmb.4_Missense_Mutation_p.S279P|DCAF11_uc001wma.4_Missense_Mutation_p.S305P	p.S305P	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN			10	1193	+			305					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.913T>C	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.529164	0.85706	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.60548	0.18;0.18	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052027	0.85682	D	0.000000	T	0.65238	0.2672	L	0.39467	1.215	0.80722	D	1	P;D;B;P;D	0.60575	0.845;0.985;0.429;0.899;0.988	P;P;B;P;P	0.59357	0.566;0.775;0.318;0.772;0.856	T	0.68202	-0.5471	10	0.87932	D	0	-2.0889	14.4025	0.67056	0.0:0.0:0.0:1.0	.	228;279;205;305;305	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	P	305;279;205;279	ENSP00000380142:S205P;ENSP00000380146:S279P	ENSP00000323680:S305P	S	+	1	0	DCAF11	23658766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.303000	0.65738	2.288000	0.76882	0.533000	0.62120	TCC		0.483	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			C	24588926	T	C	24588926	3	2	6	1	0	0	0	0	1	0	0	0	4262	1667	58	4	951	4	DCAF11	14	24588926	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		24588926	82760614	48	401											
GRAMD2	196996	broad.mit.edu	37	chr15	72460907	72460907	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtatttattcagtgttaTctgcaaacacacaggctgcg	10	14	9	8	1	2	0	1	0	1	0	2	0	2	0	0	1	3	5	0	1	4	6			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:72460907T>C	ENST00000309731.7	-	4	206	c.193A>G	c.(193-195)Ata>Gta	p.I65V	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	65						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTCAGTGTTATCTGCAAACAC	0.542																																						uc002atq.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.e4-1		Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.							140	121	128					15																	72460907		2199	4297	6496	SO:0001630	splice_region_variant	196996					integral to membrane		g.chr15:72460907T>C	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.193-1A>G	15.37:g.72460907T>C						GRAMD2_uc010bis.2_Splice_Site_p.I65_splice	p.I65_splice	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN			4	217	-			65					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.193_splice	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	6.630	0.484634	0.12641	.	.	ENSG00000175318	ENST00000309731	T	0.27256	1.68	5.45	4.31	0.51392	.	0.588174	0.17151	N	0.185050	T	0.10078	0.0247	N	0.03608	-0.345	0.24933	N	0.991903	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.16896	T	0.51	.	7.0445	0.25038	0.0:0.1112:0.0:0.8888	.	65	Q8IUY3	GRAM2_HUMAN	V	65	ENSP00000311657:I65V	ENSP00000311657:I65V	I	-	1	0	GRAMD2	70247961	1.000000	0.71417	0.896000	0.35187	0.813000	0.45954	3.200000	0.51051	0.890000	0.36211	0.533000	0.62120	ATA		0.542	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642	Missense_Mutation	C	72460907	T	C	72460907	5	2	6	1	0	0	0	0	0	0	1	0	6750	1449	50	4	907	4	GRAMD2	15	72460907	Splice_Site	SNP	T	TCGA-02-2483-01A-01D-1494-08		72460907	30070485	49	402											
IDH3A	3419	broad.mit.edu	37	chr15	78454015	78454015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgaatgtccgaccatgtGtctctatcgaaggctataaa	12	10	9	10	4	1	0	0	0	1	0	4	3	2	0	2	1	0	1	2	1	6	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:78454015G>T	ENST00000299518.2	+	5	465	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.V19F|IDH3A_ENST00000561366.1_5'Flank	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	128					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCGACCATGTGTCTCTATCGA	0.443																																						uc002bdd.3																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(382-384)Gtc>Ttc		Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						182	170	174					15																	78454015		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454015G>T		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.382G>T	15.37:g.78454015G>T	ENSP00000299518:p.Val128Phe					IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_Missense_Mutation_p.V19F|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.V78F|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.V41F	p.V128F	NM_005530	NP_005521	P50213	IDH3A_HUMAN			4	409	+			128					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.382G>T	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771690	0.90108	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.69040	-0.37;-0.37	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.051912	0.85682	D	0.000000	T	0.56702	0.2003	N	0.17674	0.51	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.49943	-0.8885	10	0.51188	T	0.08	-32.9018	19.5254	0.95203	0.0:0.0:1.0:0.0	.	128	P50213	IDH3A_HUMAN	F	128;19	ENSP00000299518:V128F;ENSP00000387506:V19F	ENSP00000299518:V128F	V	+	1	0	IDH3A	76241070	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.524000	0.73791	2.857000	0.98124	0.650000	0.86243	GTC		0.443	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		T	78454015	G	T	78454015	3	4	6	1	0	0	0	0	1	0	0	0	7496	1377	48	5	400	5	IDH3A	15	78454015	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	5993108	78454015	24077377	50	403											
PARN	5073	broad.mit.edu	37	chr16	14704541	14704541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatcctcaggaatcgTgacaggacattttgaagtgt	10	14	10	7	1	1	3	1	3	0	0	3	5	2	5	1	2	0	0	1	2	2	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:14704541T>C	ENST00000437198.2	-	7	655	c.514A>G	c.(514-516)Acg>Gcg	p.T172A	PARN_ENST00000420015.2_Missense_Mutation_p.T126A|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.T111A|PARN_ENST00000566021.1_5'UTR	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	172					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCAGGAATCGTGACAGGACAT	0.408																																						uc010uzd.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(514-516)Acg>Gcg		Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.							194	190	191					16																	14704541		1912	4136	6048	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14704541T>C	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.514A>G	16.37:g.14704541T>C	ENSP00000387911:p.Thr172Ala					PARN_uc010uzc.2_Missense_Mutation_p.T111A|PARN_uc010uze.2_Missense_Mutation_p.T126A|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	p.T172A	NM_002582	NP_001127949	O95453	PARN_HUMAN			6	660	-			172					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.514A>G	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	4.222	0.040017	0.08148	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	.	.	.	5.33	3.06	0.35304	Ribonuclease H-like (1);	0.357322	0.31834	N	0.006997	T	0.21631	0.0521	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25779	-1.0122	9	0.07990	T	0.79	-1.4487	5.6805	0.17774	0.1271:0.1441:0.0:0.7288	.	126;172	B4DWR4;O95453	.;PARN_HUMAN	A	172;111;126;155	.	ENSP00000345456:T111A	T	-	1	0	PARN	14612042	0.053000	0.20554	0.669000	0.29828	0.648000	0.38561	1.007000	0.29860	0.408000	0.25621	0.533000	0.62120	ACG		0.408	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		C	14704541	T	C	14704541	3	2	6	1	0	0	0	0	1	0	0	0	11453	1696	59	4	1477	4	PARN	16	14704541	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		14704541	75650212	51	404											
ZNF646	9726	broad.mit.edu	37	chr16	31087887	31087887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcccctgtaccacctgtgGcaaggacttctccaatccca	8	11	6	16	0	1	0	0	0	1	0	4	1	3	1	6	2	1	2	6	2	3	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:31087887G>A	ENST00000394979.2	+	1	665	c.242G>A	c.(241-243)gGc>gAc	p.G81D	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.G81D|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACCACCTGTGGCAAGGACTTC	0.627																																						uc002eap.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(241-243)gGc>gAc		Homo sapiens zinc finger protein 646 (ZNF646), mRNA.							82	53	63					16																	31087887		2197	4299	6496	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087887G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.242G>A	16.37:g.31087887G>A	ENSP00000378429:p.Gly81Asp					ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G81D	p.G81D	NM_014699	NP_055514	O15015	ZN646_HUMAN			1	531	+			81					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.242G>A		.	.	.	.	.	.	.	.	.	.	G	14.28	2.488716	0.44249	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.57752	0.38;0.38;0.38	5.9	4.86	0.63082	.	.	.	.	.	T	0.48370	0.1496	L	0.31157	0.91	0.27402	N	0.95482	P	0.51147	0.942	P	0.50440	0.641	T	0.42632	-0.9440	9	0.66056	D	0.02	-19.0412	8.056	0.30606	0.1975:0.0:0.8025:0.0	.	81	O15015-2	.	D	81	ENSP00000391271:G81D;ENSP00000300850:G81D;ENSP00000378429:G81D	ENSP00000300850:G81D	G	+	2	0	ZNF646	30995388	0.010000	0.17322	1.000000	0.80357	0.934000	0.57294	0.630000	0.24553	2.793000	0.96121	0.563000	0.77884	GGC		0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31087887	G	A	31087887	3	1	6	1	0	0	0	0	1	0	0	0	18059	1203	42	3	244	3	ZNF646	16	31087887	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	16383346	31087887	59266866	52	405											
NXN	64359	broad.mit.edu	37	chr17	722696	722696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttggattccgtacagcCggttgaggcgcgaccgccgg	6	8	14	13	6	0	1	0	1	0	0	1	3	1	2	5	4	3	2	5	4	2	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:722696C>T	ENST00000336868.3	-	5	894	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NXN_ENST00000538650.1_Missense_Mutation_p.R19Q|NXN_ENST00000537628.2_Missense_Mutation_p.R19Q|NXN_ENST00000575801.1_Missense_Mutation_p.R160Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	268	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607																																						uc002fsa.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(802-804)cGg>cAg		Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.							47	50	49					17																	722696		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:722696C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.803G>A	17.37:g.722696C>T	ENSP00000337443:p.Arg268Gln					NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.2_Missense_Mutation_p.R160Q	p.R268Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	4	883	-			268			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.803G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952873	0.73787	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T	0.80214	-1.35	6.0	6.0	0.97389	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	N	0.05306	-0.075	0.26424	N	0.976058	B;D;D;D	0.76494	0.162;0.99;0.999;0.999	B;P;D;D	0.77557	0.034;0.776;0.99;0.986	T	0.73325	-0.4018	10	0.27082	T	0.32	-12.3853	19.4837	0.95020	0.0:1.0:0.0:0.0	.	160;19;155;268	B4DXQ0;B4DNN6;Q6DKJ4-2;Q6DKJ4	.;.;.;NXN_HUMAN	Q	268;19;160	ENSP00000337443:R268Q	ENSP00000337443:R268Q	R	-	2	0	NXN	669446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.949000	0.70257	2.849000	0.98006	0.609000	0.83330	CGG		0.607	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			T	722696	C	T	722696	3	4	6	1	0	0	0	0	1	0	0	0	10787	652	23	2	520	2	NXN	17	722696	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08		722696	80472514	53	406											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577120	C	T	7577120	3	4	6	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6854424	7577120	73618090	54	407											
KRT9	3857	broad.mit.edu	37	chr17	39727935	39727935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagaactactatagcCtcctccagaagcaccaccaa	14	5	4	18	0	0	2	0	0	0	2	2	2	2	2	7	0	4	1	7	0	6	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:39727935C>T	ENST00000246662.4	-	1	375	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	104	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ctactatagcctcctccagaa	0.572																																						uc002hxe.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(310-312)Ggc>Agc		Homo sapiens keratin 9 (KRT9), mRNA.							129	153	145					17																	39727935		2201	4300	6501	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39727935C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.310G>A	17.37:g.39727935C>T	ENSP00000246662:p.Gly104Ser					JUP_uc010wfs.2_Intron	p.G104S	NM_000226	NP_000217	P35527	K1C9_HUMAN			0	376	-		Breast(137;0.000307)	104			Head.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.310G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581917	0.28180	.	.	ENSG00000171403	ENST00000246662	D	0.93426	-3.22	3.9	1.79	0.24919	.	.	.	.	.	D	0.87884	0.6290	L	0.57536	1.79	0.26086	N	0.98102	P	0.37955	0.612	B	0.28638	0.092	T	0.75792	-0.3193	9	0.18710	T	0.47	.	8.1385	0.31069	0.1544:0.7591:0.0:0.0865	.	104	P35527	K1C9_HUMAN	S	104	ENSP00000246662:G104S	ENSP00000246662:G104S	G	-	1	0	KRT9	36981461	.	.	0.007000	0.13788	0.002000	0.02628	.	.	0.588000	0.29660	-0.188000	0.12872	GGC		0.572	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		T	39727935	C	T	39727935	3	4	6	1	0	0	0	0	1	0	0	0	8501	681	24	3	1589	3	KRT9	17	39727935	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	32150815	39727935	41467275	55	408											
ABCA9	10350	broad.mit.edu	37	chr17	67012462	67012462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattccaagtagtccattgcTaatgacatccaggaggacag	14	9	9	9	0	0	1	0	1	0	0	3	3	3	3	3	2	1	2	3	2	4	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:67012462T>C	ENST00000340001.4	-	22	3182	c.2971A>G	c.(2971-2973)Agc>Ggc	p.S991G	ABCA9_ENST00000453985.2_Missense_Mutation_p.S991G|ABCA9_ENST00000370732.2_Missense_Mutation_p.S991G|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	991					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTCCATTGCTAATGACATCC	0.348																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2971-2973)Agc>Ggc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							123	120	121					17																	67012462		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67012462T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2971A>G	17.37:g.67012462T>C	ENSP00000342216:p.Ser991Gly					ABCA9_uc010dez.3_Missense_Mutation_p.S991G	p.S991G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			21	3114	-	Breast(10;1.47e-12)		991					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2971A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010259	0.75046	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87887	-2.31;-2.31	5.1	5.1	0.69264	.	0.000000	0.52532	D	0.000061	D	0.93449	0.7910	M	0.85777	2.775	0.39613	D	0.969919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.94782	0.7954	10	0.87932	D	0	.	12.8352	0.57770	0.0:0.0:0.0:1.0	.	991;991	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	991;974;991;986	ENSP00000342216:S991G;ENSP00000359767:S991G	ENSP00000342216:S991G	S	-	1	0	ABCA9	64524057	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.148000	0.64857	1.933000	0.56026	0.482000	0.46254	AGC		0.348	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		C	67012462	T	C	67012462	3	2	6	1	0	0	0	0	1	0	0	0	39	1522	53	4	1975	4	ABCA9	17	67012462	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	27284527	67012462	14182748	56	409											
RECQL5	9400	broad.mit.edu	37	chr17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggggttctggcagtggtCgcagcctttggcgcaggcag	4	9	18	10	3	1	0	0	0	1	0	2	0	1	0	1	6	1	5	1	6	0	2	rs371987831		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:73627684C>T	ENST00000317905.5	-	9	1453	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000423245.2_Missense_Mutation_p.D405N|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	432					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other identified genes with known or suspected DNA repair function																														uc010dgl.3																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1294-1296)Gac>Aac	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.		C	ASN/ASP	0,4266		0,0,2133	35	40	39		1294	6	1	17		39	1,8465		0,1,4232	no	missense	RECQL5	NM_004259.6	23	0,1,6365	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	432/992	73627684	1,12731	2133	4233	6366	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627684C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1294G>A	17.37:g.73627684C>T	ENSP00000317636:p.Asp432Asn					RECQL5_uc010dgk.3_Missense_Mutation_p.D405N|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	p.D432N	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		8	1503	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		432					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1294G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691356	0.68271	0.0	1.18E-4	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.75704	-0.96	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91909	0.5538	10	0.87932	D	0	-24.8148	20.428	0.99075	0.0:1.0:0.0:0.0	.	432;405	O94762;Q6P4G0	RECQ5_HUMAN;.	N	27;432;432	ENSP00000317636:D432N	ENSP00000317636:D432N	D	-	1	0	RECQL5	71139279	1.000000	0.71417	0.982000	0.44146	0.779000	0.44077	6.727000	0.74764	2.837000	0.97791	0.655000	0.94253	GAC		0.701	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		T	73627684	C	T	73627684	3	4	6	1	0	0	0	0	1	0	0	0	13203	884	31	2	1729	2	RECQL5	17	73627684	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6615222	73627684	7567526	57	410											
NDUFV2	4729	broad.mit.edu	37	chr18	9124948	9124948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttaggggcctgtgtgaaCgcaccaatggttcaaataaa	12	11	11	7	1	1	1	1	1	0	0	1	1	1	1	2	3	1	3	2	3	6	4	rs143576401	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr18:9124948C>T	ENST00000318388.6	+	6	660	c.546C>T	c.(544-546)aaC>aaT	p.N182N	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Silent_p.N185N|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	182					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CCTGTGTGAACGCACCAATGG	0.313													C|||	4	0.000798722	0.003	0	5008	,	,		12784	0		0	False		,,,				2504	0					uc002knu.3																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(544-546)aaC>aaT		Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)	C		12,4394	19.1+/-41.9	0,12,2191	63	64	63		546	0	1	18	dbSNP_134	63	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	NDUFV2	NM_021074.4		0,14,6489	TT,TC,CC		0.0233,0.2724,0.1076		182/250	9124948	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9124948C>T	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.546C>T	18.37:g.9124948C>T							p.N182N	NM_021074	NP_066552	P19404	NDUV2_HUMAN			5	660	+			182					Q9BV41	Silent	SNP	ENST00000318388.6	37	c.546C>T	CCDS11842.1																																																																																				0.313	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		T	9124948	C	T	9124948	2	4	6	1	0	0	0	0	0	0	0	1	10300	535	19	1		1	NDUFV2	18	9124948	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08		9124948	68952300	58	411											
GRIN3B	116444	broad.mit.edu	37	chr19	1004870	1004870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgactcggccaccctggAcgcactgttcgccgcgctgg	6	6	12	17	6	0	0	0	0	0	0	2	2	0	1	3	3	1	3	3	3	1	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:1004870A>G	ENST00000234389.3	+	3	1389	c.1370A>G	c.(1369-1371)gAc>gGc	p.D457G	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	457					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCACCCTGGACGCACTGTTC	0.672																																						uc002lqo.1																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1369-1371)gAc>gGc		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						52	50	51					19																	1004870		2201	4296	6497	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004870A>G		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1370A>G	19.37:g.1004870A>G	ENSP00000234389:p.Asp457Gly						p.D457G	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1370	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	457					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1370A>G	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	A	9.441	1.088134	0.20390	.	.	ENSG00000116032	ENST00000234389	T	0.11930	2.73	4.61	3.34	0.38264	.	0.324121	0.31834	N	0.006990	T	0.12433	0.0302	L	0.46157	1.445	0.41081	D	0.985525	B	0.14012	0.009	B	0.08055	0.003	T	0.05989	-1.0852	10	0.46703	T	0.11	.	9.6832	0.40082	0.8963:0.0:0.1037:0.0	.	457	O60391	NMD3B_HUMAN	G	457	ENSP00000234389:D457G	ENSP00000234389:D457G	D	+	2	0	GRIN3B	955870	1.000000	0.71417	0.307000	0.25127	0.275000	0.26752	6.875000	0.75551	1.741000	0.51731	0.397000	0.26171	GAC		0.672	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			G	1004870	A	G	1004870	3	3	6	1	0	0	0	0	1	0	0	0	6784	275	10	4	1380	4	GRIN3B	19	1004870	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		1004870	58124113	59	412											
PTPRS	5802	broad.mit.edu	37	chr19	5211663	5211663	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccccggatgggttgCagacagacccgtgtgctctc	7	8	11	15	2	1	2	0	0	1	2	3	3	2	3	4	2	2	3	4	2	0	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:5211663C>T	ENST00000587303.1	-	32	5271	c.5172G>A	c.(5170-5172)ctG>ctA	p.L1724L	PTPRS_ENST00000357368.4_Silent_p.L1724L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.L1704L|PTPRS_ENST00000588012.1_Silent_p.L1686L|PTPRS_ENST00000372412.4_Silent_p.L1725L|PTPRS_ENST00000353284.2_Silent_p.L1277L|PTPRS_ENST00000348075.2_Silent_p.L1686L|PTPRS_ENST00000592099.1_Silent_p.L1277L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1724	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGATGGGTTGCAGACAGACCC	0.562																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5170-5172)ctG>ctA		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							136	109	118					19																	5211663		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5211663C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5172G>A	19.37:g.5211663C>T						PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.2_Silent_p.L1266L|PTPRS_uc002mbw.3_Silent_p.L1686L|PTPRS_uc002mbx.3_Silent_p.L1281L|PTPRS_uc002mby.3_Silent_p.L1277L	p.L1724L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	32	5406	-			1724			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.5172G>A	CCDS45930.1																																																																																				0.562	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			T	5211663	C	T	5211663	2	4	6	1	0	0	0	0	0	0	0	1	12811	697	25	3		3	PTPRS	19	5211663	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	4206793	5211663	53917320	60	413											
C3	718	broad.mit.edu	37	chr19	6711035	6711035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttggcctcgtgggcgCggtccattcgcaggaggaag	6	8	17	10	4	1	0	0	0	1	0	4	3	2	3	2	6	0	1	2	6	1	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:6711035C>T	ENST00000245907.6	-	12	1534	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	481					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCGTGGGCGCGGTCCATTCG	0.607																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1441-1443)cGc>cAc		Homo sapiens complement component 3 (C3), mRNA.							231	203	212					19																	6711035		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6711035C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1442G>A	19.37:g.6711035C>T	ENSP00000245907:p.Arg481His						p.R481H	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	11	1504	-			481					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1442G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	7.791	0.711640	0.15306	.	.	ENSG00000125730	ENST00000245907	T	0.32988	1.43	4.5	2.14	0.27477	Alpha-2-macroglobulin, N-terminal 2 (1);	1.240140	0.05216	N	0.507763	T	0.19967	0.0480	N	0.19112	0.55	0.09310	N	1	P	0.44139	0.827	B	0.35859	0.212	T	0.24225	-1.0166	10	0.42905	T	0.14	.	9.4338	0.38626	0.0:0.3266:0.537:0.1364	.	481	P01024	CO3_HUMAN	H	481	ENSP00000245907:R481H	ENSP00000245907:R481H	R	-	2	0	C3	6662035	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	0.171000	0.16685	1.068000	0.40764	-0.310000	0.09108	CGC		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6711035	C	T	6711035	3	4	6	1	0	0	0	0	1	0	0	0	2204	768	27	1	3669	1	C3	19	6711035	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	1499372	6711035	52417948	61	414											
PDE4C	5143	broad.mit.edu	37	chr19	18331288	18331288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcaccagtccagctcGtctagcgtctccaatgccag	8	8	9	16	2	2	0	0	0	2	0	6	0	4	0	5	1	3	2	5	1	2	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:18331288G>A	ENST00000355502.3	-	10	1504	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Silent_p.D211D|PDE4C_ENST00000447275.3_Silent_p.D105D|PDE4C_ENST00000594465.3_Silent_p.D211D|PDE4C_ENST00000262805.12_Silent_p.D179D|PDE4C_ENST00000539010.1_De_novo_Start_OutOfFrame|PDE4C_ENST00000597297.1_Intron|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	211				D -> Y (in Ref. 2; AAD47053/AAD47054). {ECO:0000305}.	cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGTCCAGCTCGTCTAGCGTCT	0.672																																						uc010xqc.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(631-633)gaC>gaT		Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	Dyphylline(DB00651)						101	73	82					19																	18331288		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331288G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.633C>T	19.37:g.18331288G>A						PDE4C_uc002nik.4_Silent_p.D211D|PDE4C_uc002nil.4_Silent_p.D211D|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.D105D|PDE4C_uc002nii.4_Silent_p.D179D|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	p.D211D	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			5	1113	-			211	D -> Y (in Ref. 2; AAD47053/AAD47054).				B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.633C>T	CCDS12373.1																																																																																				0.672	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18331288	G	A	18331288	2	1	6	1	0	0	0	0	0	0	0	1	11641	1136	40	1		1	PDE4C	19	18331288	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	11620253	18331288	40797695	62	415											
SBSN	374897	broad.mit.edu	37	chr19	36017633	36017633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggcctggccagcagcatgGtgggcaccttggccaagctt	6	7	14	14	1	0	0	0	0	0	0	0	0	0	0	5	5	3	4	5	5	1	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:36017633G>T	ENST00000452271.2	-	1	1579	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	SBSN_ENST00000518157.1_Missense_Mutation_p.H174Q	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	517	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCAGCATGGTGGGCACCTT	0.582																																						uc002oad.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1549-1551)caC>caA		Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.							137	114	121					19																	36017633		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36017633G>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1551C>A	19.37:g.36017633G>T	ENSP00000430242:p.His517Gln					SBSN_uc002oae.2_Missense_Mutation_p.H174Q|SBSN_uc021usp.1_Intron	p.H517Q	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		0	1621	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		174					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.1551C>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.271904	0.40194	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.51817	0.91;0.69	4.1	4.1	0.47936	.	0.175242	0.26297	U	0.025189	T	0.52175	0.1718	M	0.62723	1.935	0.29078	N	0.882855	B;D	0.57899	0.138;0.981	B;P	0.56514	0.037;0.8	T	0.50268	-0.8848	10	0.02654	T	1	.	12.1542	0.54066	0.0:0.0:1.0:0.0	.	174;517	Q6UWP8;E9PBV3	SBSN_HUMAN;.	Q	517;174	ENSP00000430242:H517Q;ENSP00000428771:H174Q	ENSP00000430242:H517Q	H	-	3	2	SBSN	40709473	.	.	1.000000	0.80357	0.958000	0.62258	.	.	1.982000	0.57802	0.306000	0.20318	CAC		0.582	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		T	36017633	G	T	36017633	3	4	6	1	0	0	0	0	1	0	0	0	13864	1252	44	5	237	5	SBSN	19	36017633	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	17686345	36017633	23111350	63	416											
ZNF569	148266	broad.mit.edu	37	chr19	37904719	37904719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaataagatttgatttctGgctgaaggacttctcacatt	12	15	7	7	0	3	3	2	2	2	1	4	4	3	4	0	2	0	1	0	2	3	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:37904719G>T	ENST00000316950.6	-	6	1398	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q122K|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q281K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTTCTGGCTGAAGGAC	0.358																																						uc002ogj.3																			0		p.K305R(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(913-915)Cag>Aag		Homo sapiens zinc finger protein 569 (ZNF569), mRNA.							78	81	80					19																	37904719		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904719G>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.841C>A	19.37:g.37904719G>T	ENSP00000325018:p.Gln281Lys					ZNF569_uc002ogh.3_Missense_Mutation_p.Q122K|ZNF569_uc002ogi.3_Missense_Mutation_p.Q281K	p.Q305K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1845	-			281					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.913C>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670795	0.29693	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.07327	3.2;3.2	3.97	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35805	N	0.002963	T	0.13586	0.0329	N	0.22421	0.69	0.09310	N	1	B;P	0.51449	0.316;0.945	B;D	0.65573	0.109;0.936	T	0.13737	-1.0498	10	0.27785	T	0.31	.	13.0807	0.59112	0.0:0.1638:0.8362:0.0	.	122;281	Q17RR6;Q5MCW4	.;ZN569_HUMAN	K	281;122	ENSP00000325018:Q281K;ENSP00000375993:Q122K	ENSP00000325018:Q281K	Q	-	1	0	ZNF569	42596559	0.000000	0.05858	0.988000	0.46212	0.988000	0.76386	0.094000	0.15107	2.204000	0.70986	0.655000	0.94253	CAG		0.358	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		T	37904719	G	T	37904719	3	4	6	1	0	0	0	0	1	0	0	0	17997	1357	47	5	1223	5	ZNF569	19	37904719	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	1887086	37904719	21224264	64	417											
ZNF155	7711	broad.mit.edu	37	chr19	44500816	44500816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatgtgggaaggccttCattcatgattcccagcttaa	10	11	11	9	0	2	1	2	1	0	0	3	3	3	2	2	3	1	2	2	3	2	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:44500816C>A	ENST00000270014.2	+	5	935	c.807C>A	c.(805-807)ttC>ttA	p.F269L	ZNF155_ENST00000590615.1_Missense_Mutation_p.F269L|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.F280L|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	269					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAGGCCTTCATTCATGATT	0.398																																					NSCLC(61;554 1277 20909 42067 42312)	uc010xwt.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(838-840)ttC>ttA		Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.							116	116	116					19																	44500816		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500816C>A	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.807C>A	19.37:g.44500816C>A	ENSP00000270014:p.Phe269Leu					ZNF155_uc002oxy.1_Missense_Mutation_p.F269L|ZNF155_uc002oxz.1_Missense_Mutation_p.F269L	p.F280L	NM_198089	NP_932355	Q12901	ZN155_HUMAN			5	1024	+		Prostate(69;0.0352)	269					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.840C>A	CCDS12634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.441685|2.441685	0.43326|0.43326	.|.	.|.	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.46063|.	0.88;0.88|.	2.59|2.59	1.53|1.53	0.23141|0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.42562|.	0.1208|.	L|L	0.56280|0.56280	1.765|1.765	0.23572|0.23572	N|N	0.997389|0.997389	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|.	0.38564|.	-0.9655|.	9|.	0.87932|0.87932	D|D	0|0	.|.	5.8901|5.8901	0.18909|0.18909	0.0:0.7296:0.0:0.2704|0.0:0.7296:0.0:0.2704	.|.	280;269|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	L|X	280;269|143	ENSP00000385163:F280L;ENSP00000270014:F269L|.	ENSP00000270014:F269L|ENSP00000401576:S143X	F|S	+|+	3|2	2|0	ZNF155|ZNF155	49192656|49192656	0.002000|0.002000	0.14202|0.14202	0.009000|0.009000	0.14445|0.14445	0.011000|0.011000	0.07611|0.07611	-0.055000|-0.055000	0.11807|0.11807	0.406000|0.406000	0.25560|0.25560	-0.379000|-0.379000	0.06801|0.06801	TTC|TCA		0.398	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		A	44500816	C	A	44500816	3	1	6	1	0	0	0	0	1	0	0	0	17733	825	29	5	821	5	ZNF155	19	44500816	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6596097	44500816	14628167	65	418											
PNMAL1	55228	broad.mit.edu	37	chr19	46973358	46973359	+	Missense_Mutation	DNP	CA	CA	AT																															gtggctctctgggacccttcCaggcacatttcgccatgggc																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:46973358_46973359CA>AT	ENST00000313683.10	-	2	1239_1240	c.934_935TG>AT	c.(934-936)TGg>ATg	p.W312M	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.W312M	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	312										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGACCCTTCCAGGCACATTTC	0.584																																						uc002peq.4																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(934-936)tgg>ATg		Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.																																				SO:0001583	missense	55228							g.chr19:46973358_46973359CA>AT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.934_935delinsAT	19.37:g.46973358_46973359delinsAT	ENSP00000318131:p.Trp312Met					PNMAL1_uc002per.4_Missense_Mutation_p.W312M	p.W312M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1240_1241	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	312					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	DNP	ENST00000313683.10	37	c.934_935TG>AT	CCDS33059.1																																																																																				0.584	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		AT	46973359	CA	AT	46973358	3	1	6	1	0	0	0	0	1	0	0	0	12157	595	21	5	414	5	PNMAL1	19	46973358	Missense_Mutation	DNP	CA	TCGA-02-2483-01A-01D-1494-08	2472542	46973358	12155625	66	419											
COL18A1	80781	broad.mit.edu	37	chr21	46925140	46925141	+	In_Frame_Ins	INS	-	-	GGCCCCCCA																															aggggcgccagggccctcccINSggccccccaggccccccagg																								rs369702868	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr21:46925140_46925141insGGCCCCCCA	ENST00000359759.4	+	34	4227_4228	c.4206_4207insGGCCCCCCA	c.(4207-4209)ggc>GGCCCCCCAggc	p.1403_1403G>GPPG	COL18A1_ENST00000400337.2_In_Frame_Ins_p.988_988G>GPPG|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_In_Frame_Ins_p.1168_1168G>GPPG			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1403	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGCCCTCCCGGCCCCCCAGG	0.733																																						uc002zhi.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3499-3504)insGGCCCCCCA		Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925140_46925141insGGCCCCCCA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4216_4224dupGGCCCCCCA	21.37:g.46925141_46925149dupGGCCCCCCA	ENSP00000352798:p.ProProGly1409dup					COL18A1_uc002zhg.3_In_Frame_Ins_p.996_997insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR|COL18A1_uc002zhk.3_5'Flank	p.1176_1177insGPP	NM_030582	NP_085059	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	33	3522_3523	+			1411			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Ins	INS	ENST00000359759.4	37	c.3501_3502insGGCCCCCCA																																																																																					0.733	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			GGCCCCCCA	46925141	-	GGCCCCCCA	46925140	7	5	6	1	0	1	1	0	0	0	0	0	3675	639	23	0	4449	0	COL18A1	21	46925140	In_Frame_Ins	INS	-	TCGA-02-2483-01A-01D-1494-08		46925140	1204755	67	420											
GAS2L1	10633	broad.mit.edu	37	chr22	29707873	29707873	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccagactccccgtgcccGcagccctgcagcaccccggc	5	3	9	24	3	0	1	0	0	0	1	1	1	1	1	8	1	4	3	8	1	0	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:29707873G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000471961.1_Missense_Mutation_p.A478T|GAS2L1_ENST00000407647.2_Missense_Mutation_p.A478T|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000403764.1_Missense_Mutation_p.A478T|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407854.1_Missense_Mutation_p.A478T|RASL10A_ENST00000608559.1_5'Flank	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCCCGTGCCCGCAGCCCTGCA	0.711																																						uc003afa.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1429-1431)cGc>cAc		Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.							7	10	9					22																	29707873		1954	4013	5967	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707873G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707873G>A						GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R477H|GAS2L1_uc003afd.1_Missense_Mutation_p.A478T|GAS2L1_uc003afe.1_Missense_Mutation_p.A478T	p.R477H	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			6	1629	+			478					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1430G>A	CCDS13854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.653|8.653	0.898764|0.898764	0.17686|0.17686	.|.	.|.	ENSG00000185340|ENSG00000185340	ENST00000407647;ENST00000403764;ENST00000471961;ENST00000407854|ENST00000333679	T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82|.	3.6|3.6	-0.316|-0.316	0.12743|0.12743	.|.	.|0.614745	.|0.12071	.|N	.|0.502272	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.29704|0.29704	N|N	0.839932|0.839932	B|B;B	0.09022|0.02656	0.002|0.0;0.0	B|B;B	0.04013|0.01281	0.001|0.0;0.0	T|T	0.16070|0.16070	-1.0415|-1.0415	9|9	0.15952|0.39692	T|T	0.53|0.17	-0.3569|-0.3569	1.4451|1.4451	0.02362|0.02362	0.2097:0.1649:0.4566:0.1688|0.2097:0.1649:0.4566:0.1688	.|.	478|478;478	E7EQM6|A0A5E8;Q99501	.|.;GA2L1_HUMAN	T|H	478|477	ENSP00000385554:A478T;ENSP00000385358:A478T;ENSP00000450152:A478T;ENSP00000385023:A478T|.	ENSP00000385358:A478T|ENSP00000332834:R477H	A|R	+|+	1|2	0|0	GAS2L1|GAS2L1	28037873|28037873	0.017000|0.017000	0.18338|0.18338	0.303000|0.303000	0.25071|0.25071	0.255000|0.255000	0.26057|0.26057	0.147000|0.147000	0.16202|0.16202	0.173000|0.173000	0.19788|0.19788	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.711	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			A	29707873	G	A	29707873	1	1	6	0	1	0	0	0	0	0	0	0	6246	1087	38	1		1	GAS2L1	22	29707873	IGR	SNP	G	TCGA-02-2483-01A-01D-1494-08		29707873	21596693	68	421											
EP300	2033	broad.mit.edu	37	chr22	41564740	41564740	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataggtttgtggacagtggAgagatggcagaatcctttcc	10	12	13	6	0	0	2	0	0	0	2	2	5	2	4	2	4	0	2	2	4	3	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:41564740A>G	ENST00000263253.7	+	25	5260	c.4041A>G	c.(4039-4041)ggA>ggG	p.G1347G	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1347	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGACAGTGGAGAGATGGCAG	0.433			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													uc003azl.4				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4039-4041)ggA>ggG		Homo sapiens E1A binding protein p300 (EP300), mRNA.							175	154	162					22																	41564740		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564740A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4041A>G	22.37:g.41564740A>G							p.G1347G	NM_001429	NP_001420	Q09472	EP300_HUMAN			24	4436	+			1347					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.4041A>G	CCDS14010.1																																																																																				0.433	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41564740	A	G	41564740	2	3	6	1	0	0	0	0	0	0	0	1	5148	291	11	4		4	EP300	22	41564740	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	11856867	41564740	9739826	69	422											
ATRX	546	broad.mit.edu	37	chrX	76849273	76849273	+	Frame_Shift_Del	DEL	C	C	-																															tctgtaacaaaatctttgtaCcagtctggagctgggctgct																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:76849273delC	ENST00000373344.5	-	26	6217	c.6003delG	c.(6001-6003)tggfs	p.W2001fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.W1963fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2001					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCTTTGTACCAGTCTGGAG	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CS081873	ATRX	S		c.(6001-6003)tggfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						72	66	68					X																	76849273		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849273delC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6003delG	X.37:g.76849273delC	ENSP00000362441:p.Trp2001fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.W1963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.W1786fs	p.W2001fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			25	6235	-			2001					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6003delG	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76849273	C	-	76849273	7	5	6	1	0	1	0	1	0	0	0	0	1208	508	18	0	1515	0	ATRX	23	76849273	Frame_Shift_Del	DEL	C	TCGA-02-2483-01A-01D-1494-08		76849273	78421287	70	423											
AFF2	2334	broad.mit.edu	37	chrX	147733555	147733555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagtgcacttaaaaaaaGggaatgggagcggaggaatc	15	6	14	6	2	0	0	0	0	0	0	1	4	0	4	1	4	2	2	1	4	7	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:147733555G>T	ENST00000370460.2	+	2	562	c.83G>T	c.(82-84)aGg>aTg	p.R28M	AFF2_ENST00000370458.1_Missense_Mutation_p.R28M|AFF2_ENST00000370457.5_Missense_Mutation_p.R28M|AFF2_ENST00000342251.3_Missense_Mutation_p.R28M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	28					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAAAAAAAGGGAATGGGAG	0.363																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(82-84)aGg>aTg		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							184	176	179					X																	147733555		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733555G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.83G>T	X.37:g.147733555G>T	ENSP00000359489:p.Arg28Met					AFF2_uc004fco.3_Missense_Mutation_p.R28M|AFF2_uc004fcq.3_Missense_Mutation_p.R28M|AFF2_uc004fcr.3_Missense_Mutation_p.R28M|AFF2_uc011mxb.2_Missense_Mutation_p.R28M|AFF2_uc004fcs.3_Missense_Mutation_p.R28M	p.R28M	NM_002025	NP_002016	P51816	AFF2_HUMAN			1	562	+	Acute lymphoblastic leukemia(192;6.56e-05)		28					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.83G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887518	0.72410	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.62	3.5	0.40072	.	0.128198	0.49916	D	0.000131	T	0.66519	0.2797	L	0.46819	1.47	0.80722	D	1	P;P;P;P;P;P	0.48640	0.892;0.892;0.892;0.892;0.912;0.913	P;P;P;P;P;P	0.55222	0.614;0.614;0.614;0.614;0.733;0.771	T	0.67007	-0.5779	10	0.87932	D	0	.	4.4596	0.11659	0.6141:0.0:0.3859:0.0	.	28;28;28;28;28;28	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	M	28	ENSP00000359489:R28M;ENSP00000359486:R28M;ENSP00000345459:R28M;ENSP00000359487:R28M	ENSP00000345459:R28M	R	+	2	0	AFF2	147541247	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.911000	0.56378	1.064000	0.40671	0.594000	0.82650	AGG		0.363	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	147733555	G	T	147733555	3	4	6	1	0	0	0	0	1	0	0	0	357	1000	35	5	89	5	AFF2	23	147733555	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	70884282	147733555	7537005	71	424											
EPHB2	2048	broad.mit.edu	37	chr1	23110979	23110979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccagaacaactggctacGgaccaagtttatccggcgcc	12	6	10	13	3	0	1	0	0	0	1	1	2	1	2	4	3	4	2	4	3	6	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:23110979G>A	ENST00000400191.3	+	3	239	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_ENST00000374627.1_Missense_Mutation_p.R68Q|EPHB2_ENST00000374632.3_Missense_Mutation_p.R74Q|EPHB2_ENST00000544305.1_Missense_Mutation_p.R74Q|EPHB2_ENST00000374630.3_Missense_Mutation_p.R74Q	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	74	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACTGGCTACGGACCAAGTTT	0.587																																						uc009vqj.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(220-222)cGg>cAg		Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.							74	66	69					1																	23110979		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110979G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.221G>A	1.37:g.23110979G>A	ENSP00000383053:p.Arg74Gln					EPHB2_uc001bge.3_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R74Q|EPHB2_uc010odu.2_Missense_Mutation_p.R74Q	p.R74Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	2	366	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	74					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.221G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254964	0.80135	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.65320	2	0.58432	D	0.999998	D;D;D;P	0.76494	0.985;0.999;0.999;0.556	P;D;D;B	0.68039	0.672;0.955;0.955;0.131	T	0.00131	-1.2013	10	0.45353	T	0.12	.	12.5128	0.56015	0.0:0.0:0.8331:0.1669	.	74;74;92;74	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	Q	74;74;74;74;74;68	ENSP00000444174:R74Q;ENSP00000363761:R74Q;ENSP00000383053:R74Q;ENSP00000363763:R74Q;ENSP00000363758:R68Q	ENSP00000363755:R74Q	R	+	2	0	EPHB2	22983566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.704000	0.92352	0.484000	0.47621	CGG		0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23110979	G	A	23110979	3	1	7	1	0	0	0	0	1	0	0	0	5175	1116	39	2	231	2	EPHB2	1	23110979	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		23110979	226139642	1	425											
WNT2B	7482	broad.mit.edu	37	chr1	113059824	113059825	+	Frame_Shift_Del	DEL	CT	CT	-																															tgcgcacctgctggcgtgcaCtctcagatttccgccgcaca																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:113059824_113059825delCT	ENST00000369684.4	+	4	1248_1249	c.763_764delCT	c.(763-765)ctcfs	p.L255fs	WNT2B_ENST00000256640.5_Frame_Shift_Del_p.L163fs|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Frame_Shift_Del_p.L236fs	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	255					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCGTGCACTCTCAGATTTC	0.624																																						uc001ecb.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(763-765)ctcfs		Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.																																				SO:0001589	frameshift_variant	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059824_113059825delCT	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.763_764delCT	1.37:g.113059826_113059827delCT	ENSP00000358698:p.Leu255fs					WNT2B_uc001eca.3_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.3_Frame_Shift_Del_p.L163fs	p.L255fs	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1278_1279	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	255					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Frame_Shift_Del	DEL	ENST00000369684.4	37	c.763_764delCT	CCDS847.1																																																																																				0.624	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		-	113059825	CT	-	113059824	7	5	7	1	0	1	0	1	0	0	0	0	17384	565	20	0	910	0	WNT2B	1	113059824	Frame_Shift_Del	DEL	CT	TCGA-02-2485-01A-01D-1494-08	89948845	113059824	136190797	2	426											
FLG	2312	broad.mit.edu	37	chr1	152279764	152279764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaagcttcatggtgaCgcgaccctgagtgcctggag	9	7	16	9	2	1	3	1	2	0	1	1	7	1	5	2	3	2	1	2	3	1	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:152279764C>T	ENST00000368799.1	-	3	7633	c.7598G>A	c.(7597-7599)cGt>cAt	p.R2533H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2533	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.592									Ichthyosis																													uc001ezu.1																			0		p.S2532S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7597-7599)cGt>cAt		Homo sapiens filaggrin (FLG), mRNA.							259	271	267					1																	152279764		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279764C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7598G>A	1.37:g.152279764C>T	ENSP00000357789:p.Arg2533His						p.R2533H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	7634	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2533			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7598G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	1.718	-0.497349	0.04291	.	.	ENSG00000143631	ENST00000368799	T	0.02369	4.32	1.84	-3.69	0.04450	.	.	.	.	.	T	0.00637	0.0021	N	0.25485	0.75	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.38329	-0.9666	9	0.40728	T	0.16	.	8.4101	0.32638	0.0:0.4663:0.0:0.5337	.	2533	P20930	FILA_HUMAN	H	2533	ENSP00000357789:R2533H	ENSP00000357789:R2533H	R	-	2	0	FLG	150546388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.373000	0.00068	-2.898000	0.00313	-3.438000	0.00037	CGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152279764	C	T	152279764	3	4	7	1	0	0	0	0	1	0	0	0	5922	536	19	1	4591	1	FLG	1	152279764	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	39219940	152279764	96970857	3	427											
FNDC4	64838	broad.mit.edu	37	chr2	27716857	27716857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagttcggaagtgcacccGgggccctgggggactctctc	6	7	16	12	2	1	1	0	0	1	1	4	4	1	3	2	5	1	2	2	5	1	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:27716857G>A	ENST00000264703.3	-	4	785	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	132	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGTGCACCCGGGGCCCTGGG	0.607																																						uc002rkx.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(394-396)Cgg>Tgg		Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.							65	75	72					2																	27716857		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27716857G>A	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"Fibronectin type III domain containing"	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.394C>T	2.37:g.27716857G>A	ENSP00000264703:p.Arg132Trp					GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	p.R132W	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN			3	800	-	Acute lymphoblastic leukemia(172;0.155)		132			Fibronectin type-III.		D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.394C>T	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379628	0.61845	.	.	ENSG00000115226	ENST00000264703	T	0.76186	-1.0	5.18	2.35	0.29111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.055294	0.64402	D	0.000002	T	0.78717	0.4327	L	0.51422	1.61	0.50313	D	0.999867	D	0.89917	1.0	D	0.67548	0.952	T	0.76135	-0.3070	10	0.72032	D	0.01	-26.0419	8.1025	0.30865	0.0757:0.0:0.6433:0.281	.	132	Q9H6D8	FNDC4_HUMAN	W	132	ENSP00000264703:R132W	ENSP00000264703:R132W	R	-	1	2	FNDC4	27570361	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.689000	0.54706	0.185000	0.20105	0.462000	0.41574	CGG		0.607	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		A	27716857	G	A	27716857	3	1	7	1	0	0	0	0	1	0	0	0	5971	1115	39	2	326	2	FNDC4	2	27716857	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		27716857	215482516	4	428											
SCN3A	6328	broad.mit.edu	37	chr2	166019327	166019327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcagggcccccacaaTggtctttaaacctgcagaga	11	8	10	12	0	2	1	1	0	1	1	2	3	2	2	3	3	2	1	3	3	3	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:166019327T>C	ENST00000360093.3	-	8	1197	c.706A>G	c.(706-708)Att>Gtt	p.I236V	SCN3A_ENST00000409101.3_Missense_Mutation_p.I236V|SCN3A_ENST00000283254.7_Missense_Mutation_p.I236V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	236					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCCCCACAATGGTCTTTAAA	0.453																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(706-708)Att>Gtt		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						104	105	105					2																	166019327		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019327T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.706A>G	2.37:g.166019327T>C	ENSP00000353206:p.Ile236Val					SCN3A_uc002ucy.3_Missense_Mutation_p.I236V|SCN3A_uc002ucz.3_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	p.I236V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			7	1198	-			236					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.706A>G		.	.	.	.	.	.	.	.	.	.	T	15.59	2.879585	0.51801	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.98463	0.9488	L	0.50333	1.59	0.80722	D	1	P;P;D;P;P	0.71674	0.898;0.944;0.998;0.653;0.948	D;P;D;P;D	0.83275	0.956;0.893;0.996;0.632;0.949	D	0.99899	1.1155	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	236;236;236;236;236	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	236	ENSP00000353206:I236V;ENSP00000283254:I236V;ENSP00000386726:I236V;ENSP00000403348:I236V	ENSP00000283254:I236V	I	-	1	0	SCN3A	165727573	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.040000	0.89188	2.270000	0.75569	0.482000	0.46254	ATT		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	166019327	T	C	166019327	3	2	7	1	0	0	0	0	1	0	0	0	13918	1464	51	4	5380	4	SCN3A	2	166019327	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08	138302470	166019327	77180046	5	429											
ZNF804A	91752	broad.mit.edu	37	chr2	185802513	185802513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaccagaagaatttttgaGgccaccaagtacttcagttg	12	13	8	8	0	1	3	1	1	0	2	1	3	1	3	3	1	2	2	3	1	5	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:185802513G>A	ENST00000302277.6	+	4	2984	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	797							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTTTGAGGCCACCAAGT	0.383																																						uc002uph.3																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2389-2391)aGg>aAg		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							47	52	50					2																	185802513		2200	4299	6499	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802513G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2390G>A	2.37:g.185802513G>A	ENSP00000303252:p.Arg797Lys						p.R797K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			3	2984	+			797					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2390G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	6.533	0.466662	0.12402	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	5.81	-0.729	0.11158	.	0.658159	0.14608	N	0.309201	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.21071	0.051	B	0.12156	0.007	T	0.37174	-0.9717	10	0.35671	T	0.21	-0.6984	7.3086	0.26461	0.1932:0.334:0.4727:0.0	.	797	Q7Z570	Z804A_HUMAN	K	797	ENSP00000303252:R797K	ENSP00000303252:R797K	R	+	2	0	ZNF804A	185510758	0.030000	0.19436	0.000000	0.03702	0.467000	0.32768	0.242000	0.18087	-0.127000	0.11661	0.655000	0.94253	AGG		0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185802513	G	A	185802513	3	1	7	1	0	0	0	0	1	0	0	0	18167	1000	35	3	2404	3	ZNF804A	2	185802513	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	19783186	185802513	57396860	6	430											
ANKRD44	91526	broad.mit.edu	37	chr2	197863059	197863059	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttaaattcatttacatActttactacaagccaaatgt	15	17	2	7	0	1	0	1	0	0	0	1	0	1	0	1	0	5	0	1	0	9	10			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:197863059A>G	ENST00000328737.2	-	25	2750		c.e25+1		ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44											NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCATTTACATACTTTACTACA	0.333																																						uc021vuj.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.e25+1		Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.							45	44	45					2																	197863059		2202	4300	6502	SO:0001630	splice_region_variant	91526						protein binding	g.chr2:197863059A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2673+1T>C	2.37:g.197863059A>G						ANKRD44_uc002utz.4_Splice_Site_p.K623_splice|ANKRD44_uc021vuk.1_Splice_Site_p.K891_splice	p.K916_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		25	2941	-			916					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Splice_Site	SNP	ENST00000328737.2	37	c.2748_splice		.	.	.	.	.	.	.	.	.	.	A	19.64	3.864550	0.71949	.	.	ENSG00000065413	ENST00000424317;ENST00000448801;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8004	0.69909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD44	197571304	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.856000	0.92245	2.146000	0.66826	0.482000	0.46254	.		0.333	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	Intron	G	197863059	A	G	197863059	5	3	7	1	0	0	0	0	0	0	1	0	672	405	14	4	92	4	ANKRD44	2	197863059	Splice_Site	SNP	A	TCGA-02-2485-01A-01D-1494-08	12060546	197863059	45336314	7	431											
KIAA1486	57624	broad.mit.edu	37	chr2	226446958	226446958	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaatgaagtaccctatCtttgacgacttgggccaaga	13	9	11	8	1	1	3	0	2	1	1	1	6	1	4	2	2	1	1	2	2	5	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:226446958C>A	ENST00000272907.6	+	4	1238	c.825C>A	c.(823-825)atC>atA	p.I275I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	275					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.I275I(1)									AGTACCCTATCTTTGACGACT	0.542																																						uc002voe.2																			1	Substitution - coding silent(1)	p.I275I(1)	lung(1)								c.(823-825)atC>atA		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							113	120	118					2																	226446958		2093	4208	6301	SO:0001819	synonymous_variant	57624							g.chr2:226446958C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.825C>A	2.37:g.226446958C>A						NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.I45I	p.I275I	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1000	+			275					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.825C>A	CCDS46529.1																																																																																				0.542	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226446958	C	A	226446958	2	1	7	1	0	0	0	0	0	0	0	1	8237	903	32	5		5	KIAA1486	2	226446958	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	28583899	226446958	16752415	8	432			1	2		2	2	22	C		5.155449e-05
KIAA1486	57624	broad.mit.edu	37	chr2	226446979	226446979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacgacttgggccaagaCgccaaatgtgacttcgacca	11	9	10	11	3	0	3	0	2	0	1	1	5	0	3	3	1	0	0	3	1	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:226446979C>T	ENST00000272907.6	+	4	1259	c.846C>T	c.(844-846)gaC>gaT	p.D282D	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	282					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGGGCCAAGACGCCAAATGTG	0.557																																						uc002voe.2																			0											c.(844-846)gaC>gaT		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							104	111	109					2																	226446979		2104	4208	6312	SO:0001819	synonymous_variant	57624							g.chr2:226446979C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.846C>T	2.37:g.226446979C>T						NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.D52D	p.D282D	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1021	+			282					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.846C>T	CCDS46529.1																																																																																				0.557	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		T	226446979	C	T	226446979	2	4	7	1	0	0	0	0	0	0	0	1	8237	535	19	1		1	KIAA1486	2	226446979	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	21	226446979	16752394	9	433			1	2		2	2	22	C		5.155449e-05
COL6A3	1293	broad.mit.edu	37	chr2	238249201	238249201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcgtttggctcactggcGaaggtgtatacctccttgat	7	13	11	10	3	1	1	1	1	0	0	3	2	2	1	2	3	1	3	2	3	3	4	rs113423040		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:238249201G>A	ENST00000295550.4	-	38	8810	c.8358C>T	c.(8356-8358)ttC>ttT	p.F2786F	COL6A3_ENST00000409809.1_Silent_p.F2580F|COL6A3_ENST00000347401.3_Silent_p.F2585F|COL6A3_ENST00000353578.4_Silent_p.F2580F|COL6A3_ENST00000472056.1_Silent_p.F2179F|COL6A3_ENST00000346358.4_Silent_p.F2586F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2786	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCACTGGCGAAGGTGTATA	0.547																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8356-8358)ttC>ttT		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							113	99	104					2																	238249201		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249201G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8358C>T	2.37:g.238249201G>A						COL6A3_uc002vwo.2_Silent_p.F2580F|COL6A3_uc010znj.1_Silent_p.F2179F|COL6A3_uc002vwj.2_Silent_p.F167F	p.F2786F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	37	8643	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2786			Nonhelical region.|VWFA 12.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.8358C>T	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238249201	G	A	238249201	2	1	7	1	0	0	0	0	0	0	0	1	3701	1049	37	2		2	COL6A3	2	238249201	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	11802222	238249201	4950172	10	434											
CNTN4	152330	broad.mit.edu	37	chr3	3076350	3076350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgtgacaatagaCgaaatcacagataccactgc	15	6	9	11	1	1	4	1	1	0	3	1	5	1	4	2	1	2	1	2	1	4	2	rs185066001	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:3076350C>T	ENST00000397461.1	+	16	2202	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	CNTN4_ENST00000358480.3_Silent_p.D387D|CNTN4_ENST00000448906.2_Silent_p.D278D|CNTN4_ENST00000427331.1_Silent_p.D606D|CNTN4_ENST00000397459.2_Silent_p.D278D|CNTN4_ENST00000418658.1_Silent_p.D606D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	606	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGACAATAGACGAAATCACAG	0.537													C|||	4	0.000798722	0	0	5008	,	,		16936	0.004		0	False		,,,				2504	0					uc003bpc.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1816-1818)gaC>gaT		Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.							83	71	75					3																	3076350		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3076350C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1818C>T	3.37:g.3076350C>T						CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc021wsg.1_Silent_p.D606D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.3_Silent_p.D278D|CNTN4_uc003bpf.3_Silent_p.D277D	p.D606D	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2157	+		Ovarian(110;0.156)	606			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1818C>T	CCDS43041.1																																																																																				0.537	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			T	3076350	C	T	3076350	2	4	7	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNTN4	3	3076350	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		3076350	194946080	11	435											
COLQ	8292	broad.mit.edu	37	chr3	15512054	15512054	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccttacctgcttgcctcGttttcctggtcttcctgtgg	2	17	9	13	1	1	0	0	0	1	0	5	1	4	0	5	2	3	2	5	2	1	5			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:15512054G>A	ENST00000383788.5	-	11	831	c.706C>T	c.(706-708)Cga>Tga	p.R236*	COLQ_ENST00000435459.2_Nonsense_Mutation_p.R226*|COLQ_ENST00000383787.2_Nonsense_Mutation_p.R227*|COLQ_ENST00000383781.4_Nonsense_Mutation_p.R226*|COLQ_ENST00000603808.1_Nonsense_Mutation_p.R236*|COLQ_ENST00000383785.2_Nonsense_Mutation_p.R236*|COLQ_ENST00000383786.5_Nonsense_Mutation_p.R202*	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	236	Collagen-like 1.|Heparan sulfate proteoglycan binding. {ECO:0000255}.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGCTTGCCTCGTTTTCCTGGT	0.552																																						uc003bzx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19	GRCh37	CM030023	COLQ	M		c.(706-708)Cga>Tga		Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.							392	275	315					3																	15512054		2203	4300	6503	SO:0001587	stop_gained	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15512054G>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.706C>T	3.37:g.15512054G>A	ENSP00000373298:p.Arg236*					COLQ_uc003bzv.3_Nonsense_Mutation_p.R226*|COLQ_uc010heo.3_Nonsense_Mutation_p.R202*|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*	p.R236*	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			10	832	-			236			Collagen-like 1.|Heparan sulfate proteoglycan binding (Potential).		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Nonsense_Mutation	SNP	ENST00000383788.5	37	c.706C>T	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507849	0.97624	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	.	.	.	6.04	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2321	14.0019	0.64437	0.0:0.0:0.8328:0.1672	.	.	.	.	X	227;226;226;236;236;226;236;202;179	.	ENSP00000373291:R226X	R	-	1	2	COLQ	15487058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.675000	0.37555	1.506000	0.48736	0.561000	0.74099	CGA		0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		A	15512054	G	A	15512054	4	1	7	1	0	0	0	0	0	1	0	0	3713	1153	40	1	689	1	COLQ	3	15512054	Nonsense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	12435704	15512054	182510376	12	436											
ROBO1	6091	broad.mit.edu	37	chr3	79639041	79639042	+	Frame_Shift_Del	DEL	AG	AG	-																															agtgatatcatgaccaaaaaAggaacatgtttccatttcat																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:79639041_79639042delAG	ENST00000464233.1	-	2	133_134	c.20_21delCT	c.(19-21)cctfs	p.P7fs		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.P7H(2)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACCAAAAAAGGAACATGTTT	0.381																																						uc003dqe.2																			2	Substitution - Missense(2)	p.P7H(3)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(19-21)cctfs		Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79639041_79639042delAG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.20_21delCT	3.37:g.79639041_79639042delAG	ENSP00000420321:p.Pro7fs						p.P7fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	1	228_229	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	7					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.20_21delCT	CCDS54611.1																																																																																				0.381	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		-	79639042	AG	-	79639041	7	5	7	1	0	1	0	1	0	0	0	0	13513	59	3	0	5126	0	ROBO1	3	79639041	Frame_Shift_Del	DEL	AG	TCGA-02-2485-01A-01D-1494-08	64126987	79639041	118383389	13	437											
PIK3CA	5290	broad.mit.edu	37	chr3	178916921	178916921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttttaaaagtaattgAaccagtaggcaaccgtgaag	15	10	8	8	1	0	2	0	2	0	0	0	2	0	2	3	1	2	3	3	1	7	6			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:178916921A>G	ENST00000263967.3	+	2	465	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	103	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAAGTAATTGAACCAGTAGGC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0		p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(307-309)gAa>gGa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							93	88	90					3																	178916921		1817	4070	5887	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916921A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.308A>G	3.37:g.178916921A>G	ENSP00000263967:p.Glu103Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E103G	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	465	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		103			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.308A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094708	0.76870	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74632	-0.86;-0.86	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85252	0.1045	9	.	.	.	-15.5947	15.6301	0.76899	1.0:0.0:0.0:0.0	.	103	P42336	PK3CA_HUMAN	G	103	ENSP00000263967:E103G;ENSP00000417479:E103G	.	E	+	2	0	PIK3CA	180399615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.089000	0.63090	0.454000	0.30748	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178916921	A	G	178916921	3	3	7	1	0	0	0	0	1	0	0	0	11913	246	9	4	310	4	PIK3CA	3	178916921	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	99277880	178916921	19105509	14	438											
HELT	391723	broad.mit.edu	37	chr4	185940979	185940979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgcactccgctgattttCcccggggaagggaaaaaggt	10	8	12	11	2	0	1	0	1	0	0	2	3	2	3	3	4	1	2	3	4	3	2	rs147187823		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr4:185940979C>T	ENST00000515777.1	+	3	299	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	HELT_ENST00000505610.1_Missense_Mutation_p.P71S|HELT_ENST00000338875.4_Missense_Mutation_p.P156S			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	71					central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCTGATTTTCCCCGGGGAAG	0.632													c|||	1	0.000199681	8e-04	0	5008	,	,		15683	0		0	False		,,,				2504	0					uc011ckq.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14						c.(466-468)Ccc>Tcc		Homo sapiens helt bHLH transcription factor (HELT), mRNA.		C	SER/PRO	3,4401		0,3,2199	26	26	26		466	4.9	1	4	dbSNP_134	26	0,8600		0,0,4300	yes	missense	HELT	NM_001029887.1	74	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	benign	156/328	185940979	3,13001	2202	4300	6502	SO:0001583	missense	391723						DNA binding	g.chr4:185940979C>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.211C>T	4.37:g.185940979C>T	ENSP00000426033:p.Pro71Ser					HELT_uc011cko.2_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	p.P156S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	466	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	156					B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.466C>T		.	.	.	.	.	.	.	.	.	.	C	13.55	2.269824	0.40095	6.81E-4	0.0	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;D	0.98221	-0.09;-0.09;-4.8	4.89	4.89	0.63831	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	L	0.38953	1.18	0.80722	D	1	B;B;B	0.31769	0.339;0.023;0.066	B;B;B	0.26094	0.066;0.012;0.028	D	0.94698	0.7880	10	0.15952	T	0.53	-11.869	17.8433	0.88721	0.0:1.0:0.0:0.0	.	156;71;71	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	S	71;71;156	ENSP00000422140:P71S;ENSP00000426033:P71S;ENSP00000343464:P156S	ENSP00000343464:P156S	P	+	1	0	HELT	186177973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.411000	0.80078	2.551000	0.86045	0.561000	0.74099	CCC		0.632	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		T	185940979	C	T	185940979	3	4	7	1	0	0	0	0	1	0	0	0	7048	855	30	3	476	3	HELT	4	185940979	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		185940979	5213297	15	439											
SLCO6A1	133482	broad.mit.edu	37	chr5	101735262	101735262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaatatatacataccgcGtcatggccaagacgattggt	13	10	10	8	3	1	1	1	0	0	1	1	3	1	1	2	2	2	1	2	2	6	6	rs139495343		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:101735262G>A	ENST00000506729.1	-	10	1982	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.T351M|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.T604M|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.T542M|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.T351M			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	604						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACATACCGCGTCATGGCCAA	0.284													g|||	1	0.000199681	8e-04	0	5008	,	,		13474	0		0	False		,,,				2504	0					uc003knn.3																			0		p.M603I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1810-1812)aCg>aTg		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							59	56	57					5																	101735262		2202	4300	6502	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735262G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1811C>T	5.37:g.101735262G>A	ENSP00000421339:p.Thr604Met					SLCO6A1_uc003kno.3_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.3_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.3_Missense_Mutation_p.T542M	p.T604M	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1983	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	604					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1811C>T	CCDS34206.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	5.253	0.232178	0.09969	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.12	1.41	0.22369	Major facilitator superfamily domain, general substrate transporter (1);	1.347460	0.04763	N	0.426685	T	0.15305	0.0369	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14438	0.006;0.007;0.01	B;B;B	0.11329	0.003;0.001;0.006	T	0.22208	-1.0223	10	0.41790	T	0.15	.	8.7833	0.34804	0.8311:0.0:0.1689:0.0	.	542;351;604	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	M	604;604;542;351;351	ENSP00000421339:T604M;ENSP00000369135:T604M;ENSP00000373671:T542M;ENSP00000421990:T351M;ENSP00000369138:T351M	ENSP00000369135:T604M	T	-	2	0	SLCO6A1	101763161	0.037000	0.19845	0.000000	0.03702	0.000000	0.00434	1.852000	0.39348	0.158000	0.19367	-1.879000	0.00546	ACG		0.284	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101735262	G	A	101735262	3	1	7	1	0	0	0	0	1	0	0	0	14732	1145	40	1	364	1	SLCO6A1	5	101735262	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		101735262	79179998	16	440											
REEP2	51308	broad.mit.edu	37	chr5	137781275	137781275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaacccatcaaaaaagcGcccaaagctgaggtgagggc	15	3	11	12	1	1	2	1	2	0	0	1	2	1	2	3	2	3	1	3	2	5	0	rs373069993		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:137781275G>A	ENST00000254901.5	+	7	800	c.678G>A	c.(676-678)gcG>gcA	p.A226A	REEP2_ENST00000506158.1_Silent_p.A188A|REEP2_ENST00000378339.2_Silent_p.A228A	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	226					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAAAAAGCGCCCAAAGCTG	0.592													G|||	1	0.000199681	0	0	5008	,	,		15862	0		0	False		,,,				2504	0.001					uc003lda.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(682-684)gcG>gcA		Homo sapiens receptor accessory protein 2 (REEP2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	50	55	53		678	-2.5	0.8	5		53	0,8600		0,0,4300	no	coding-synonymous	REEP2	NM_016606.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		226/253	137781275	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51308					integral to membrane		g.chr5:137781275G>A	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"Receptor accessory proteins"	17975	protein-coding gene	gene with protein product		609347	"chromosome 5 open reading frame 19"	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.678G>A	5.37:g.137781275G>A						REEP2_uc003lcz.3_Silent_p.A226A|REEP2_uc011cyt.2_Silent_p.A187A	p.A228A	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		6	806	+			226					Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	c.684G>A	CCDS4205.1																																																																																				0.592	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		A	137781275	G	A	137781275	2	1	7	1	0	0	0	0	0	0	0	1	13205	1074	38	1		1	REEP2	5	137781275	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	36046013	137781275	43133985	17	441											
PCDHA12	56137	broad.mit.edu	37	chr5	140257259	140257259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgagccggtgcgcgccGggcaagcccacgctggtgtg	5	5	17	14	6	0	1	0	1	0	0	0	1	0	1	4	3	3	2	4	3	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	734	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2200-2202)ccG>ccA		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.							28	28	28					5																	140257259		2201	4300	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140257259G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2202G>A	5.37:g.140257259G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.P734P	p.P734P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2329	+			738					O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2202G>A	CCDS47285.1																																																																																				0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140257259	G	A	140257259	2	1	7	1	0	0	0	0	0	0	0	1	11522	1103	39	2		2	PCDHA12	5	140257259	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	2475984	140257259	40658001	18	442											
MAML1	9794	broad.mit.edu	37	chr5	179192466	179192466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgggagttgccatctcttCcaatggactgcctccagcct	6	12	9	14	0	2	0	0	0	2	0	5	2	4	2	5	2	3	1	5	2	1	2	rs551874527		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:179192466C>A	ENST00000292599.3	+	2	718	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCTTCCAATGGACTG	0.602																																						uc003mkm.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(454-456)tCc>tAc		Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.							45	50	48					5																	179192466		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192466C>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.455C>A	5.37:g.179192466C>A	ENSP00000292599:p.Ser152Tyr					MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	p.S152Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	718	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	152						Missense_Mutation	SNP	ENST00000292599.3	37	c.455C>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842446	0.51057	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.48836	0.8	5.11	5.11	0.69529	.	0.378995	0.25319	N	0.031533	T	0.64283	0.2584	M	0.64997	1.995	0.43777	D	0.996308	D;P	0.62365	0.991;0.95	P;P	0.59643	0.861;0.629	T	0.67237	-0.5721	10	0.62326	D	0.03	-7.934	18.5375	0.91015	0.0:1.0:0.0:0.0	.	189;152	Q59GH4;Q92585	.;MAML1_HUMAN	Y	152;189	ENSP00000292599:S152Y	ENSP00000292599:S152Y	S	+	2	0	MAML1	179125072	1.000000	0.71417	0.957000	0.39632	0.393000	0.30537	5.321000	0.65846	2.367000	0.80283	0.462000	0.41574	TCC		0.602	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179192466	C	A	179192466	3	1	7	1	0	0	0	0	1	0	0	0	9205	855	30	5	461	5	MAML1	5	179192466	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	38935207	179192466	1722794	19	443											
DSP	1832	broad.mit.edu	37	chr6	7583891	7583891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcccagattgcttcaggGggtgtagtagaccctgtgaa	10	9	14	8	0	1	3	1	1	0	2	1	4	1	3	2	2	2	3	2	2	4	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:7583891G>A	ENST00000379802.3	+	24	6737	c.6396G>A	c.(6394-6396)ggG>ggA	p.G2132G	DSP_ENST00000418664.2_Silent_p.G1533G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2132	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCTTCAGGGGGTGTAGTAG	0.473																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6394-6396)ggG>ggA		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							54	59	57					6																	7583891		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583891G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6396G>A	6.37:g.7583891G>A						DSP_uc003mxq.1_Silent_p.G1533G|DSP_uc021yle.1_Silent_p.G1689G	p.G2132G	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	6675	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2132			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.6396G>A	CCDS4501.1																																																																																				0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7583891	G	A	7583891	2	1	7	1	0	0	0	0	0	0	0	1	4781	1219	43	3		3	DSP	6	7583891	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		7583891	163531176	20	444											
JARID2	3720	broad.mit.edu	37	chr6	15520428	15520428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcgacagtggacgtgccCccctcccgtctgtcagcctc	6	7	11	17	3	2	1	1	0	1	1	4	3	3	2	5	1	3	0	5	1	0	0	rs200263166	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:15520428C>T	ENST00000341776.2	+	18	3931	c.3687C>T	c.(3685-3687)ccC>ccT	p.P1229P	JARID2_ENST00000397311.3_Silent_p.P1057P	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1229					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGACGTGCCCCCCTCCCGTC	0.488													C|||	2	0.000399361	0	0	5008	,	,		15115	0		0.001	False		,,,				2504	0.001					uc003nbj.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(3685-3687)ccC>ccT		Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.		C		0,4406		0,0,2203	81	78	79		3687	-1	1	6		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JARID2	NM_004973.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1229/1247	15520428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15520428C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3687C>T	6.37:g.15520428C>T						JARID2_uc011div.2_Silent_p.P1057P	p.P1229P	NM_004973	NP_004964	Q92833	JARD2_HUMAN			17	3931	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1229					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.3687C>T	CCDS4533.1																																																																																				0.488	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		T	15520428	C	T	15520428	2	4	7	1	0	0	0	0	0	0	0	1	7945	610	22	3		3	JARID2	6	15520428	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	7936537	15520428	155594639	21	445											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggtccaccccgacaccgGcatctcatccaaggccatgg	9	5	10	17	2	1	0	1	0	1	0	4	1	3	0	6	4	0	2	6	4	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:26199947G>A	ENST00000359985.1	+	1	200	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567																																						uc003ngx.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(160-162)gGc>gAc		Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.							222	205	211					6																	26199947		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199947G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.161G>A	6.37:g.26199947G>A	ENSP00000353074:p.Gly54Asp					HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	p.G54D	NM_003522	NP_003517	P62807	H2B1C_HUMAN			0	161	+		all_hematologic(11;0.196)	54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.161G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222980	0.58668	.	.	ENSG00000197846	ENST00000359985	T	0.69435	-0.4	3.89	3.89	0.44902	.	0.000000	0.42172	D	0.000755	T	0.73442	0.3587	.	.	.	0.41511	D	0.988346	.	.	.	.	.	.	T	0.78807	-0.2059	7	0.87932	D	0	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	D	54	ENSP00000353074:G54D	ENSP00000353074:G54D	G	+	2	0	HIST1H2BF	26307926	1.000000	0.71417	0.996000	0.52242	0.014000	0.08584	9.518000	0.98022	2.102000	0.63906	0.650000	0.86243	GGC		0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		A	26199947	G	A	26199947	3	1	7	1	0	0	0	0	1	0	0	0	7145	1203	42	3	163	3	HIST1H2BF	6	26199947	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	10679519	26199947	144915120	22	446											
LGSN	51557	broad.mit.edu	37	chr6	64004847	64004847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatatccgtttctcccActtcagttgaacaaacatat	12	13	5	11	1	2	1	1	1	1	0	4	2	3	2	2	1	2	2	2	1	4	5			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:64004847A>C	ENST00000370657.4	-	2	167	c.134T>G	c.(133-135)gTg>gGg	p.V45G	LGSN_ENST00000370658.5_Missense_Mutation_p.V45G			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	45					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTTTCTCCCACTTCAGTTGA	0.393																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(133-135)gTg>gGg		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						260	231	241					6																	64004847		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004847A>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.134T>G	6.37:g.64004847A>C	ENSP00000359691:p.Val45Gly					LGSN_uc003pei.3_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	p.V45G	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			1	168	-			45					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.134T>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	3.817	-0.038626	0.07497	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.22336	1.96;2.0	4.71	2.23	0.28157	.	0.626928	0.17339	N	0.177812	T	0.03220	0.0094	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18013	0.025;0.011;0.0	B;B;B	0.14578	0.011;0.007;0.001	T	0.43940	-0.9360	10	0.18276	T	0.48	-1.9999	1.7541	0.02978	0.5621:0.1803:0.0959:0.1617	.	45;45;45	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	G	45	ENSP00000359692:V45G;ENSP00000359691:V45G	ENSP00000359691:V45G	V	-	2	0	LGSN	64062806	0.084000	0.21492	0.106000	0.21319	0.184000	0.23303	1.033000	0.30191	0.247000	0.21414	0.482000	0.46254	GTG		0.393	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		C	64004847	A	C	64004847	3	2	7	1	0	0	0	0	1	0	0	0	8759	159	6	5	1407	5	LGSN	6	64004847	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	37804900	64004847	107110220	23	447											
HECA	51696	broad.mit.edu	37	chr6	139487771	139487771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaagaagtctggctccGagaagaacacagggaggcct	16	4	13	8	1	1	4	0	0	1	4	2	6	2	5	2	3	1	1	2	3	6	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:139487771G>A	ENST00000367658.2	+	2	907	c.622G>A	c.(622-624)Gag>Aag	p.E208K	RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	208					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTCTGGCTCCGAGAAGAACAC	0.592																																						uc003qin.3																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(622-624)Gag>Aag		Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.							39	45	42					6																	139487771		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487771G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.622G>A	6.37:g.139487771G>A	ENSP00000356630:p.Glu208Lys						p.E208K	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	1	907	+			208						Missense_Mutation	SNP	ENST00000367658.2	37	c.622G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096141	0.76870	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	5.13	0.70059	.	0.155014	0.51477	D	0.000083	T	0.56834	0.2012	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.51926	-0.8643	9	0.27082	T	0.32	.	18.7842	0.91947	0.0:0.0:1.0:0.0	.	208	Q9UBI9	HDC_HUMAN	K	208	.	ENSP00000356630:E208K	E	+	1	0	HECA	139529464	1.000000	0.71417	0.960000	0.40013	0.874000	0.50279	9.142000	0.94618	2.676000	0.91093	0.655000	0.94253	GAG		0.592	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		A	139487771	G	A	139487771	3	1	7	1	0	0	0	0	1	0	0	0	7038	1059	37	2	628	2	HECA	6	139487771	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	75482924	139487771	31627296	24	448											
NOD1	10392	broad.mit.edu	37	chr7	30492358	30492358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaatttgacccctgcGtctagccggcccgtggccca	9	7	11	14	3	1	3	0	1	1	2	1	3	1	3	5	2	2	0	5	2	4	2	rs150842987		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:30492358G>A	ENST00000222823.4	-	6	1200	c.675C>T	c.(673-675)gaC>gaT	p.D225D	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	225	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGACCCCTGCGTCTAGCCGGC	0.577																																						uc003tav.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(673-675)gaC>gaT		Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.							69	73	71					7																	30492358		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492358G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.675C>T	7.37:g.30492358G>A						NOD1_uc010kvs.2_Intron	p.D225D	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			5	1198	-			225			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.675C>T	CCDS5427.1																																																																																				0.577	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			A	30492358	G	A	30492358	2	1	7	1	0	0	0	0	0	0	0	1	10516	1136	40	1		1	NOD1	7	30492358	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		30492358	128646305	25	449											
VPS41	27072	broad.mit.edu	37	chr7	38835094	38835094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccccagccaataatcaGtgtcacattgtccttccagc	10	10	6	15	0	2	0	2	0	0	0	5	0	5	0	5	0	2	0	5	0	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:38835094G>C	ENST00000310301.4	-	9	742	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	VPS41_ENST00000395969.2_Missense_Mutation_p.L205V|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	230					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCAATAATCAGTGTCACATTG	0.468																																						uc003tgy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(688-690)Ctg>Gtg		Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.							108	97	101					7																	38835094		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38835094G>C	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.688C>G	7.37:g.38835094G>C	ENSP00000309457:p.Leu230Val					VPS41_uc003tgz.3_Missense_Mutation_p.L205V|VPS41_uc010kxn.3_Intron	p.L230V	NM_014396	NP_055211	P49754	VPS41_HUMAN			8	714	-			230					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.688C>G	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176513	0.94846	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141	T;T;T	0.60548	0.18;0.18;0.27	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.80450	-0.1377	10	0.59425	D	0.04	-11.5681	20.0852	0.97797	0.0:0.0:1.0:0.0	.	205;230	E9PF36;P49754	.;VPS41_HUMAN	V	230;205;156	ENSP00000309457:L230V;ENSP00000379297:L205V;ENSP00000412974:L156V	ENSP00000309457:L230V	L	-	1	2	VPS41	38801619	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	9.808000	0.99193	2.756000	0.94617	0.561000	0.74099	CTG		0.468	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			C	38835094	G	C	38835094	3	2	7	1	0	0	0	0	1	0	0	0	17207	1020	36	5	1960	5	VPS41	7	38835094	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	8342736	38835094	120303569	26	450											
POM121L12	285877	broad.mit.edu	37	chr7	53103860	53103860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcaggccgccccgccGcccaggagctcctggacccc	4	2	12	23	4	0	0	0	0	0	0	1	2	1	2	10	3	1	2	10	3	0	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53103860G>A	ENST00000408890.4	+	1	512	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	166										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgccccgccgcccAGGAGCT	0.721																																						uc003tpz.3																			0		p.A165A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(496-498)Gcc>Acc		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							12	16	15					7																	53103860		1806	4024	5830	SO:0001583	missense	285877							g.chr7:53103860G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.496G>A	7.37:g.53103860G>A	ENSP00000386133:p.Ala166Thr						p.A166T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	512	+			166					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.496G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	8.040	0.763579	0.15914	.	.	ENSG00000221900	ENST00000408890	T	0.24350	1.86	1.89	-3.79	0.04320	.	.	.	.	.	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.31459	0.324	B	0.14023	0.01	T	0.12604	-1.0541	9	0.56958	D	0.05	.	0.288	0.00254	0.2327:0.1587:0.251:0.3576	.	166	Q8N7R1	P1L12_HUMAN	T	166	ENSP00000386133:A166T	ENSP00000386133:A166T	A	+	1	0	POM121L12	53071354	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.589000	0.02104	-2.102000	0.00845	0.650000	0.86243	GCC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103860	G	A	53103860	3	1	7	1	0	0	0	0	1	0	0	0	12241	1087	38	1	498	1	POM121L12	7	53103860	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	14268766	53103860	106034803	27	451											
POM121L12	285877	broad.mit.edu	37	chr7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagcccgccccatccGccatctgggacttctgggag	5	8	12	16	2	2	0	0	0	2	0	4	2	4	2	6	3	1	0	6	3	0	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53104151G>A	ENST00000408890.4	+	1	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(787-789)Gcc>Acc		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							49	55	53					7																	53104151		2014	4176	6190	SO:0001583	missense	285877							g.chr7:53104151G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.787G>A	7.37:g.53104151G>A	ENSP00000386133:p.Ala263Thr						p.A263T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	803	+			263					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.787G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381964	0.42207	.	.	ENSG00000221900	ENST00000408890	T	0.30714	1.52	2.16	-0.192	0.13248	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.37997	0.614	B	0.23275	0.045	T	0.15723	-1.0427	9	0.72032	D	0.01	.	4.2117	0.10514	0.5664:0.0:0.4336:0.0	.	263	Q8N7R1	P1L12_HUMAN	T	263	ENSP00000386133:A263T	ENSP00000386133:A263T	A	+	1	0	POM121L12	53071645	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.338000	0.33873	-0.041000	0.13558	0.561000	0.74099	GCC		0.662	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53104151	G	A	53104151	3	1	7	1	0	0	0	0	1	0	0	0	12241	1087	38	1	789	1	POM121L12	7	53104151	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	291	53104151	106034512	28	452											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:55221822C>A	ENST00000275493.2	+	7	1043	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_ENST00000455089.1_Missense_Mutation_p.A244D|EGFR_ENST00000420316.2_Missense_Mutation_p.A289D|EGFR_ENST00000344576.2_Missense_Mutation_p.A289D|EGFR_ENST00000454757.2_Missense_Mutation_p.A236D|EGFR_ENST00000442591.1_Missense_Mutation_p.A289D|EGFR_ENST00000342916.3_Missense_Mutation_p.A289D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>A	7.37:g.55221822C>A	ENSP00000275493:p.Ala289Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459485	0.96240	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.41710	1.295	0.80722	D	1	P;D;P;D;P	0.69078	0.933;0.997;0.954;0.991;0.685	B;D;P;P;B	0.79784	0.424;0.993;0.652;0.649;0.241	T	0.74890	-0.3510	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	D	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244D;ENSP00000342376:A289D;ENSP00000345973:A289D;ENSP00000413843:A289D;ENSP00000275493:A289D;ENSP00000410031:A289D;ENSP00000395243:A236D	ENSP00000275493:A289D	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221822	C	A	55221822	3	1	7	1	0	0	0	0	1	0	0	0	4967	739	26	5	892	5	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	2117671	55221822	103916841	29	453											
LRWD1	222229	broad.mit.edu	37	chr7	102106371	102106371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacctggagacgctgcCggacaacctgggcctgtccc	8	5	11	17	2	0	1	0	0	0	1	1	3	1	2	6	3	3	1	6	3	2	0	rs371342787		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:102106371C>T	ENST00000292616.5	+	2	340	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	63					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.P63L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GAGACGCTGCCGGACAACCTG	0.622																																						uc003uzn.3																			1	Substitution - Missense(1)	p.P63L(2)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(187-189)cCg>cTg		Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.		C	LEU/PRO	0,4406		0,0,2203	48	49	49		188	5	0.6	7		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRWD1	NM_152892.1	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	63/648	102106371	1,13005	2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106371C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.188C>T	7.37:g.102106371C>T	ENSP00000292616:p.Pro63Leu					ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	p.P63L	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			1	326	+			63					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.188C>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218050	0.95104	0.0	1.16E-4	ENSG00000161036	ENST00000292616	T	0.28895	1.59	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71932	-0.4443	10	0.87932	D	0	-11.7684	17.3718	0.87380	0.0:1.0:0.0:0.0	.	63	Q9UFC0	LRWD1_HUMAN	L	63	ENSP00000292616:P63L	ENSP00000292616:P63L	P	+	2	0	LRWD1	101893376	1.000000	0.71417	0.551000	0.28230	0.937000	0.57800	6.846000	0.75399	2.349000	0.79799	0.561000	0.74099	CCG		0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		T	102106371	C	T	102106371	3	4	7	1	0	0	0	0	1	0	0	0	9047	652	23	2	194	2	LRWD1	7	102106371	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	46884549	102106371	57032292	30	454											
CHRM2	1129	broad.mit.edu	37	chr7	136700738	136700738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcagcctgcaaaaaagAagcctcctccttcccgggaa	13	6	8	14	1	0	1	0	0	0	1	3	2	3	2	5	1	4	2	5	1	6	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:136700738A>G	ENST00000445907.2	+	3	1654	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.K376E|CHRM2_ENST00000320658.5_Missense_Mutation_p.K376E|CHRM2_ENST00000453373.1_Missense_Mutation_p.K376E|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.K376E|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.K376E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	376					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCAAAAAAGAAGCCTCCTCC	0.478																																						uc003vtf.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1126-1128)Aag>Gag		Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						88	90	89					7																	136700738		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700738A>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1126A>G	7.37:g.136700738A>G	ENSP00000399745:p.Lys376Glu					CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.K376E	p.K376E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN			3	1749	+			376					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1126A>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980412	0.74474	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.84773	2.715	0.80722	D	1	P	0.42961	0.795	P	0.52957	0.714	D	0.86889	0.2047	10	0.66056	D	0.02	-8.6078	15.9204	0.79562	1.0:0.0:0.0:0.0	.	376	P08172	ACM2_HUMAN	E	376	ENSP00000399745:K376E;ENSP00000415386:K376E;ENSP00000319984:K376E;ENSP00000380733:K376E;ENSP00000384937:K376E;ENSP00000384401:K376E	ENSP00000319984:K376E	K	+	1	0	CHRM2	136351278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.164000	0.68074	0.533000	0.62120	AAG		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			G	136700738	A	G	136700738	3	3	7	1	0	0	0	0	1	0	0	0	3377	247	9	4	1128	4	CHRM2	7	136700738	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	34594367	136700738	22437925	31	455											
RP1	6101	broad.mit.edu	37	chr8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttggccccaggcccaaCgatggatgaactctcctctt	9	11	8	13	1	2	1	0	1	2	0	3	3	2	2	4	3	2	0	4	3	3	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)	p.T1796M(2)|p.T1796T(1)	endometrium(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5386-5388)aCg>aTg		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							77	74	75					8																	55541829		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541829C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5387C>T	8.37:g.55541829C>T	ENSP00000220676:p.Thr1796Met					RP1_uc011ldy.1_Intron	p.T1796M	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	5535	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1796						Missense_Mutation	SNP	ENST00000220676.1	37	c.5387C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021724	0.19433	.	.	ENSG00000104237	ENST00000220676	T	0.21191	2.02	5.93	-7.18	0.01505	.	1.642690	0.03391	N	0.201882	T	0.15132	0.0365	L	0.36672	1.1	0.09310	N	1	B	0.31968	0.349	B	0.31191	0.125	T	0.23762	-1.0179	10	0.66056	D	0.02	.	7.0392	0.25010	0.1497:0.3819:0.3642:0.1042	.	1796	P56715	RP1_HUMAN	M	1796	ENSP00000220676:T1796M	ENSP00000220676:T1796M	T	+	2	0	RP1	55704382	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.201000	0.17276	-1.915000	0.01077	-2.053000	0.00404	ACG		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55541829	C	T	55541829	3	4	7	1	0	0	0	0	1	0	0	0	13532	536	19	1	5397	1	RP1	8	55541829	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		55541829	90822193	32	456											
DOCK8	81704	broad.mit.edu	37	chr9	286571	286571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggacttcactgatgaCgacttggacgtggtgttcac	7	11	13	10	3	2	2	2	2	0	0	3	5	2	4	0	4	0	1	0	4	0	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:286571C>T	ENST00000453981.1	+	3	379	c.267C>T	c.(265-267)gaC>gaT	p.D89D	DOCK8_ENST00000469391.1_Silent_p.D21D|DOCK8_ENST00000432829.2_Silent_p.D21D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	89					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCACTGATGACGACTTGGACG	0.507																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(265-267)gaC>gaT		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							132	116	122					9																	286571		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286571C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.267C>T	9.37:g.286571C>T						DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc022bcu.1_Silent_p.D21D|DOCK8_uc010mgv.3_Silent_p.D21D|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Silent_p.D21D|DOCK8_uc003zgg.3_Silent_p.D21D|DOCK8_uc022bct.1_Non-coding_Transcript	p.D89D	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	2	379	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	89					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.267C>T	CCDS6440.2																																																																																				0.507	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	286571	C	T	286571	2	4	7	1	0	0	0	0	0	0	0	1	4693	535	19	1		1	DOCK8	9	286571	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		286571	140926860	33	457											
TMEM215	401498	broad.mit.edu	37	chr9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagctgctgtgggtccGcaaattgccctgcttccgga	7	9	13	12	3	0	0	0	0	0	0	2	3	2	1	3	2	5	4	3	2	2	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597																																						uc022bfh.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(232-234)cGc>cAc		Homo sapiens transmembrane protein 215 (TMEM215), mRNA.							85	76	79					9																	32784414		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784414G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.233G>A	9.37:g.32784414G>A	ENSP00000345468:p.Arg78His					TMEM215_uc003zri.4_Missense_Mutation_p.R78H	p.R78H	NM_212558	NP_997723	Q68D42	TM215_HUMAN			0	233	+			78					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.233G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843700	0.16963	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	4.28	0.50868	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.30856	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.7196	0.40295	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.258000	0.51507	1.184000	0.42957	-0.258000	0.10820	CGC		0.597	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		A	32784414	G	A	32784414	3	1	7	1	0	0	0	0	1	0	0	0	16135	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	32497843	32784414	108429017	34	458											
TDRD7	23424	broad.mit.edu	37	chr9	100227272	100227272	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggaggacgcctggttaCgggcacaggtcatctcaaca	10	6	13	12	3	2	0	2	0	1	0	3	3	2	2	2	5	2	2	2	5	2	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:100227272C>A	ENST00000355295.4	+	8	1886	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	TDRD7_ENST00000422139.2_Silent_p.R457R	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	531	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGCCTGGTTACGGGCACAGGT	0.423																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1591-1593)Cgg>Agg		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.							79	72	74					9																	100227272		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100227272C>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1591C>A	9.37:g.100227272C>A						TDRD7_uc011lux.2_Silent_p.R457R	p.R531R	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			7	1816	+		Acute lymphoblastic leukemia(62;0.158)	531			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.1591C>A	CCDS6725.1																																																																																				0.423	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		A	100227272	C	A	100227272	2	1	7	1	0	0	0	0	0	0	0	1	15732	527	19	5		5	TDRD7	9	100227272	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	67442858	100227272	40986159	35	459											
TGFBR1	7046	broad.mit.edu	37	chr9	101900167	101900167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgcttgttcagagaacaAttgcgagaactattgtgtta	12	14	9	6	1	1	2	1	0	0	2	1	4	1	2	0	0	4	3	0	0	5	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:101900167A>G	ENST00000374994.4	+	4	718	c.601A>G	c.(601-603)Att>Gtt	p.I201V	TGFBR1_ENST00000550253.1_Missense_Mutation_p.I132V|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I124V|TGFBR1_ENST00000552516.1_Missense_Mutation_p.I205V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	201	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGAACAATTGCGAGAAC	0.358																																						uc004azc.3																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(601-603)Att>Gtt		Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.							132	130	130					9																	101900167		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900167A>G		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.601A>G	9.37:g.101900167A>G	ENSP00000364133:p.Ile201Val					TGFBR1_uc004azd.3_Missense_Mutation_p.I124V|TGFBR1_uc004aze.3_Missense_Mutation_p.I205V|TGFBR1_uc011lvc.2_Missense_Mutation_p.I132V	p.I201V	NM_004612	NP_004603	P36897	TGFR1_HUMAN			3	677	+		Acute lymphoblastic leukemia(62;0.0559)	201			GS.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.601A>G	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639162	0.47153	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.59	5.59	0.84812	Protein kinase-like domain (1);TGF beta receptor, GS motif (3);	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	L	0.28344	0.845	0.80722	D	1	B;B	0.24426	0.027;0.103	B;B	0.31946	0.082;0.138	D	0.88658	0.3187	9	.	.	.	.	14.7546	0.69554	1.0:0.0:0.0:0.0	.	124;201	P36897-3;P36897	.;TGFR1_HUMAN	V	201;201;124;205;55;132	ENSP00000364133:I201V;ENSP00000364129:I124V;ENSP00000447297:I205V;ENSP00000449028:I55V;ENSP00000450052:I132V	.	I	+	1	0	TGFBR1	100939988	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.446000	0.60014	2.134000	0.65973	0.528000	0.53228	ATT		0.358	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			G	101900167	A	G	101900167	3	3	7	1	0	0	0	0	1	0	0	0	15818	101	4	4	615	4	TGFBR1	9	101900167	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	1672895	101900167	39313264	36	460											
NRP1	8829	broad.mit.edu	37	chr10	33545336	33545336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaaccatggagagaatgCccgatgaggatcggattcga	16	6	12	7	3	0	2	0	1	0	1	2	8	0	5	2	3	2	0	2	3	4	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:33545336C>T	ENST00000265371.4	-	6	1247	c.722G>A	c.(721-723)gGc>gAc	p.G241D	NRP1_ENST00000374875.1_Missense_Mutation_p.G60D|NRP1_ENST00000432372.2_Missense_Mutation_p.G241D|NRP1_ENST00000374816.3_Missense_Mutation_p.G241D|NRP1_ENST00000374822.4_Missense_Mutation_p.G241D|NRP1_ENST00000374867.2_Missense_Mutation_p.G241D|NRP1_ENST00000374823.5_Missense_Mutation_p.G241D|NRP1_ENST00000395995.1_Missense_Mutation_p.G241D|NRP1_ENST00000374821.5_Missense_Mutation_p.G241D			O14786	NRP1_HUMAN	neuropilin 1	241	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGAGAGAATGCCCGATGAGGA	0.483																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(721-723)gGc>gAc		Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	Palifermin(DB00039)|Pegaptanib(DB04895)						119	102	107					10																	33545336		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33545336C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.722G>A	10.37:g.33545336C>T	ENSP00000265371:p.Gly241Asp					NRP1_uc001iwv.4_Missense_Mutation_p.G241D|NRP1_uc001iwy.4_Missense_Mutation_p.G241D|NRP1_uc009xlz.3_Missense_Mutation_p.G241D|NRP1_uc001iww.4_Missense_Mutation_p.G60D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.2_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	p.G241D	NM_003873	NP_003864	O14786	NRP1_HUMAN			4	1245	-			241			CUB 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.722G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511501	0.85389	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	T;T;T;T;T;T;T;T	0.28255	1.62;2.38;1.62;1.62;1.62;1.62;1.62;1.62	5.85	5.85	0.93711	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.45285	1.41	0.80722	D	1	D;D;D;P;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.832;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.671;1.0;1.0;1.0;1.0;1.0	T	0.48636	-0.9018	10	0.87932	D	0	-28.4622	20.1731	0.98165	0.0:1.0:0.0:0.0	.	241;241;241;241;241;241;241;60;241	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	D	241;60;241;241;241;241;241;241;60	ENSP00000265371:G241D;ENSP00000364009:G60D;ENSP00000364001:G241D;ENSP00000379317:G241D;ENSP00000363955:G241D;ENSP00000363954:G241D;ENSP00000363956:G241D;ENSP00000363949:G241D	ENSP00000265371:G241D	G	-	2	0	NRP1	33585342	1.000000	0.71417	0.995000	0.50966	0.452000	0.32318	7.788000	0.85771	2.768000	0.95171	0.655000	0.94253	GGC		0.483	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			T	33545336	C	T	33545336	3	4	7	1	0	0	0	0	1	0	0	0	10660	739	26	3	2112	3	NRP1	10	33545336	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		33545336	101989411	37	461											
BMS1	9790	broad.mit.edu	37	chr10	43312886	43312888	+	In_Frame_Del	DEL	GAA	GAA	-																															tgtttgatgcagaatatgatGaaggagaaagcacatatttt																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:43312886_43312888delGAA	ENST00000374518.5	+	15	2587_2589	c.2524_2526delGAA	c.(2524-2526)gaadel	p.E842del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	842					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAATATGATGAAGGAGAAAGCA	0.384																																						uc001jaj.3																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2524-2526)gaadel		Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.																																				SO:0001651	inframe_deletion	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43312886_43312888delGAA	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2524_2526delGAA	10.37:g.43312886_43312888delGAA	ENSP00000363642:p.Glu842del						p.E842del	NM_014753	NP_055568	Q14692	BMS1_HUMAN			14	2882_2884	+			842					Q5QPT5|Q86XJ9	In_Frame_Del	DEL	ENST00000374518.5	37	c.2524_2526delGAA	CCDS7199.1																																																																																				0.384	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		-	43312888	GAA	-	43312886	7	5	7	1	0	1	0	1	0	0	0	0	1472	1291	45	0	2578	0	BMS1	10	43312886	In_Frame_Del	DEL	GAA	TCGA-02-2485-01A-01D-1494-08	9767550	43312886	92221861	38	462											
CYP2C8	1558	broad.mit.edu	37	chr10	96827051	96827051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccatcccaaaattcCgcaaggttgtgagggagaaa	12	9	9	11	1	1	2	0	1	1	1	4	3	4	2	4	2	0	2	4	2	4	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:96827051C>T	ENST00000371270.3	-	3	489	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C8_ENST00000539050.1_Missense_Mutation_p.R46Q|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R30Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	132					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CCCAAAATTCCGCAAGGTTGT	0.483																																						uc001kkb.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(394-396)cGg>cAg		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						175	161	166					10																	96827051		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827051C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.395G>A	10.37:g.96827051C>T	ENSP00000360317:p.Arg132Gln					CYP2C8_uc010qoa.2_Missense_Mutation_p.R62Q|CYP2C8_uc010qoc.2_Missense_Mutation_p.R30Q|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R46Q|CYP2C8_uc021pwl.1_Missense_Mutation_p.R62Q|CYP2C8_uc010qod.1_Missense_Mutation_p.R46Q	p.R132Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	490	-		Colorectal(252;0.0397)	132					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.395G>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491800	0.84962	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.12879	2.64;2.64;2.64	4.64	4.64	0.57946	.	0.000000	0.64402	U	0.000001	T	0.38692	0.1050	M	0.91818	3.245	0.37299	D	0.908616	D;D;D;D	0.69078	0.997;0.997;0.989;0.997	P;P;P;P	0.54210	0.629;0.745;0.674;0.745	T	0.60419	-0.7267	10	0.87932	D	0	.	16.221	0.82258	0.0:1.0:0.0:0.0	.	46;30;100;132	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	Q	132;99;30;46	ENSP00000360317:R132Q;ENSP00000445062:R30Q;ENSP00000442343:R46Q	ENSP00000360317:R132Q	R	-	2	0	CYP2C8	96817041	0.149000	0.22717	0.426000	0.26672	0.564000	0.35744	2.975000	0.49281	2.424000	0.82194	0.561000	0.74099	CGG		0.483	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		T	96827051	C	T	96827051	3	4	7	1	0	0	0	0	1	0	0	0	4167	652	23	2	1105	2	CYP2C8	10	96827051	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	53514165	96827051	38707696	39	463											
NEURL	9148	broad.mit.edu	37	chr10	105331407	105331407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaaggcgctgcctgaGgagtttgccaatgagggcaa	9	7	16	9	1	0	2	0	2	0	0	0	3	0	3	3	4	2	3	3	4	3	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:105331407G>T	ENST00000369780.4	+	3	886	c.477G>T	c.(475-477)gaG>gaT	p.E159D	NEURL_ENST00000369777.2_Missense_Mutation_p.E142D	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		159	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCTGCCTGAGGAGTTTGCCA	0.612																																						uc001kxh.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(475-477)gaG>gaT		Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.							120	81	94					10																	105331407		2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331407G>T																												ENST00000369780.4:c.477G>T	10.37:g.105331407G>T	ENSP00000358795:p.Glu159Asp					NEURL_uc021pxn.1_Missense_Mutation_p.E142D	p.E159D	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	887	+			159			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.477G>T	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730777	0.69074	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	T;T	0.30981	1.51;1.51	5.79	4.89	0.63831	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.42632	1.34	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.35151	-0.9800	10	0.59425	D	0.04	-17.5358	7.534	0.27700	0.2503:0.0:0.7497:0.0	.	159	O76050	NEU1A_HUMAN	D	159;142;142;84	ENSP00000358795:E159D;ENSP00000358792:E142D	ENSP00000358792:E142D	E	+	3	2	NEURL	105321397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.524000	0.35942	1.451000	0.47736	0.561000	0.74099	GAG		0.612	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			T	105331407	G	T	105331407	3	4	7	1	0	0	0	0	1	0	0	0	10345	991	35	5	487	5	NEURL	10	105331407	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	8504356	105331407	30203340	40	464											
MUC2	4583	broad.mit.edu	37	chr11	1080301	1080301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtatatgacgacatcGgggacagtggctgcgttcct	8	9	13	11	4	0	1	0	1	0	0	2	3	1	2	2	3	1	4	2	3	2	3	rs200412947		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:1080301G>A	ENST00000441003.2	+	8	1048	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	MUC2_ENST00000359061.5_Missense_Mutation_p.G341R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	341	TIL.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGACGACATCGGGGACAGTGG	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		17317	0		0	False		,,,				2504	0					uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1021-1023)Ggg>Agg		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)	G	ARG/GLY	10,4254		0,10,2122	25	29	27		1021	-3	0	11		27	0,8486		0,0,4243	yes	missense	MUC2	NM_002457.2	125	0,10,6365	AA,AG,GG		0.0,0.2345,0.0784	possibly-damaging	341/2813	1080301	10,12740	2132	4243	6375	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080301G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1021G>A	11.37:g.1080301G>A	ENSP00000415183:p.Gly341Arg						p.G341R	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1048	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	341			TIL.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1021G>A		.	.	.	.	.	.	.	.	.	.	G	2.141	-0.396765	0.04899	0.002345	0.0	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54866	0.55;0.55	3.74	-3.03	0.05429	.	1.617510	0.04718	N	0.418792	T	0.48040	0.1478	L	0.36672	1.1	0.09310	N	1	P	0.43231	0.801	P	0.45610	0.487	T	0.50242	-0.8851	10	0.27785	T	0.31	.	12.1622	0.54110	0.7943:0.0:0.2057:0.0	.	341	E7EUV1	.	R	341	ENSP00000415183:G341R;ENSP00000351956:G341R	ENSP00000351956:G341R	G	+	1	0	MUC2	1070301	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.403000	0.07214	-0.489000	0.06716	0.491000	0.48974	GGG		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1080301	G	A	1080301	3	1	7	1	0	0	0	0	1	0	0	0	9975	1116	39	2	1051	2	MUC2	11	1080301	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		1080301	133926215	41	465											
OR5M11	219487	broad.mit.edu	37	chr11	56310330	56310330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaaactctcctggacGttttcacactgtagcgcaga	11	10	9	11	2	2	2	1	0	1	2	3	3	2	3	1	1	3	4	1	1	2	3	rs372489507		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:56310330G>C	ENST00000528616.2	-	1	427	c.404C>G	c.(403-405)aCg>aGg	p.T135R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCCTGGACGTTTTCACACT	0.498																																						uc010rjl.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(403-405)aCg>aGg		Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.							52	55	54					11																	56310330		2180	4285	6465	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310330G>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.404C>G	11.37:g.56310330G>C	ENSP00000432417:p.Thr135Arg					OR8U8_uc001nit.2_Intron	p.T135R	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			0	404	-			135					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.404C>G	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	7.331	0.619016	0.14129	.	.	ENSG00000255223	ENST00000528616	T	0.00571	6.5	5.21	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	N	0.14661	0.345	0.25805	N	0.98447	B	0.23591	0.088	B	0.28784	0.094	T	0.50074	-0.8870	9	0.87932	D	0	.	10.8629	0.46837	0.9236:0.0:0.0764:0.0	.	135	Q96RB7	OR5MB_HUMAN	R	135	ENSP00000432417:T135R	ENSP00000432417:T135R	T	-	2	0	OR5M11	56066906	0.918000	0.31147	0.959000	0.39883	0.109000	0.19521	1.991000	0.40727	0.949000	0.37715	-0.533000	0.04299	ACG		0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		C	56310330	G	C	56310330	3	2	7	1	0	0	0	0	1	0	0	0	11174	1145	40	5	516	5	OR5M11	11	56310330	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	55230029	56310330	78696186	42	466											
UVRAG	7405	broad.mit.edu	37	chr11	75590966	75590966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaattatgccagaccGtcttgatacatctgtgtctt	8	17	8	8	1	3	2	0	1	3	1	3	3	3	3	2	1	2	0	2	1	3	6	rs200253982		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:75590966G>A	ENST00000356136.3	+	4	555	c.314G>A	c.(313-315)cGt>cAt	p.R105H	UVRAG_ENST00000528420.1_Missense_Mutation_p.R4H	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	105	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATGCCAGACCGTCTTGATACA	0.423																																						uc001oxc.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(313-315)cGt>cAt		Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.		G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	272	258	263		314	0.5	1	11		263	0,8586		0,0,4293	yes	missense	UVRAG	NM_003369.3	29	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	benign	105/700	75590966	1,12985	2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75590966G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.314G>A	11.37:g.75590966G>A	ENSP00000348455:p.Arg105His					UVRAG_uc010rrw.2_Missense_Mutation_p.R4H	p.R105H	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			3	555	+			105			C2.		B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.314G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330074	0.41297	2.27E-4	0.0	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.42900	0.96	5.65	0.455	0.16649	C2 calcium-dependent membrane targeting (1);	0.287349	0.38778	N	0.001573	T	0.32315	0.0825	L	0.47716	1.5	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	T	0.10613	-1.0622	10	0.36615	T	0.2	-3.107	9.9666	0.41727	0.4571:0.0:0.5429:0.0	.	105	Q9P2Y5	UVRAG_HUMAN	H	105;4;4	ENSP00000348455:R105H	ENSP00000348455:R105H	R	+	2	0	UVRAG	75268614	0.439000	0.25610	0.992000	0.48379	0.996000	0.88848	0.772000	0.26647	0.167000	0.19631	-0.302000	0.09304	CGT		0.423	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		A	75590966	G	A	75590966	3	1	7	1	0	0	0	0	1	0	0	0	17105	1145	40	1	328	1	UVRAG	11	75590966	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	19280636	75590966	59415550	43	467											
NOP2	4839	broad.mit.edu	37	chr12	6675301	6675301	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcctcagagttggagTcagctccatagtcatctacc	9	11	7	14	0	5	1	4	0	1	1	7	2	7	2	4	1	2	2	4	1	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:6675301T>G	ENST00000322166.5	-	5	561	c.440A>C	c.(439-441)gAc>gCc	p.D147A	NOP2_ENST00000537442.1_Missense_Mutation_p.D147A|NOP2_ENST00000382421.3_Missense_Mutation_p.D147A|NOP2_ENST00000545200.1_Missense_Mutation_p.D143A|NOP2_ENST00000541778.1_Missense_Mutation_p.D143A|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.D143A	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	147					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGAGTTGGAGTCAGCTCCATA	0.488																																						uc021qtw.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(427-429)gAc>gCc		Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.							74	77	76					12																	6675301		2138	4229	6367	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6675301T>G		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.440A>C	12.37:g.6675301T>G	ENSP00000313272:p.Asp147Ala					NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.D143A|NOP2_uc021qty.1_Missense_Mutation_p.D147A|NOP2_uc021qtz.1_Missense_Mutation_p.D147A|NOP2_uc021qua.1_Missense_Mutation_p.D147A	p.D143A	NM_001033714	NP_006161	P46087	NOP2_HUMAN			4	608	-			147					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.428A>C	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247015	0.22796	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867;ENST00000536124;ENST00000545492	T;T;T;T;T;T;T;T;T;T	0.51817	2.28;2.5;2.38;2.3;2.28;2.3;0.69;0.93;0.94;0.91	4.86	1.08	0.20341	.	2.407120	0.01889	N	0.038384	T	0.31136	0.0787	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.19679	-1.0298	10	0.44086	T	0.13	-7.1763	5.4483	0.16548	0.0:0.1104:0.4652:0.4244	.	147;143	Q3KQS4;P46087-2	.;.	A	147;147;143;143;147;143;23;143;147;147	ENSP00000444437:D147A;ENSP00000371858:D147A;ENSP00000439422:D143A;ENSP00000382392:D143A;ENSP00000313272:D147A;ENSP00000443150:D143A;ENSP00000440754:D23A;ENSP00000443035:D143A;ENSP00000442895:D147A;ENSP00000441923:D147A	ENSP00000313272:D147A	D	-	2	0	NOP2	6545562	0.000000	0.05858	0.036000	0.18154	0.948000	0.59901	-0.227000	0.09126	0.191000	0.20236	0.482000	0.46254	GAC		0.488	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		G	6675301	T	G	6675301	3	3	7	1	0	0	0	0	1	0	0	0	10538	1667	58	5	2046	5	NOP2	12	6675301	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08		6675301	127176594	44	468											
GEFT	115557	broad.mit.edu	37	chr12	58010639	58010640	+	Frame_Shift_Ins	INS	-	-	A																															tccaaaaacccctccctgccINSaagccagacttgccaagctg																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:58010639_58010640insA	ENST00000286494.4	+	15	2165_2166	c.1705_1706insA	c.(1705-1707)caafs	p.Q569fs	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.Q608fs|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	569						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCTCCCTGCCAAGCCAGACTT	0.554																																						uc001spb.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1705-1707)caafs		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010639_58010640insA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1707dupA	12.37:g.58010641_58010641dupA	ENSP00000286494:p.Gln569fs					ARHGEF25_uc009zpy.3_Frame_Shift_Ins_p.Q608fs|ARHGEF25_uc001spa.3_Frame_Shift_Ins_p.Q463fs|BC073932_uc001spc.3_Intron	p.Q569fs	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			14	2165_2166	+			569					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	ENST00000286494.4	37	c.1705_1706insA	CCDS8947.1																																																																																				0.554	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		A	58010640	-	A	58010639	7	5	7	1	0	1	1	0	0	0	0	0	6328	595	21	0	1985	0	GEFT	12	58010639	Frame_Shift_Ins	INS	-	TCGA-02-2485-01A-01D-1494-08	51335338	58010639	75841256	45	469											
ATP8A2	51761	broad.mit.edu	37	chr13	26349058	26349058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgaccaagtgcatcttGtactgcttctataagaacgt	10	12	10	9	2	2	2	0	1	2	1	2	2	2	2	1	1	4	3	1	1	5	5			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:26349058G>T	ENST00000381655.2	+	27	2782	c.2640G>T	c.(2638-2640)ttG>ttT	p.L880F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.L840F|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	840					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGTGCATCTTGTACTGCTTCT	0.388																																						uc001uqk.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2638-2640)ttG>ttT		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.							153	132	138					13																	26349058		1855	4099	5954	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26349058G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2640G>T	13.37:g.26349058G>T	ENSP00000371070:p.Leu880Phe					ATP8A2_uc010tdi.2_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	p.L880F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	26	2782	+		Breast(139;0.0201)|Lung SC(185;0.0225)	840					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2640G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095100	0.56075	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.70749	-0.51;-0.51	5.53	1.6	0.23607	.	0.000000	0.64402	D	0.000002	T	0.82217	0.4989	M	0.91196	3.185	0.50632	D	0.999883	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.984;0.993;0.984	T	0.78173	-0.2307	10	0.87932	D	0	.	1.9862	0.03436	0.2656:0.2268:0.3919:0.1157	.	840;660;840	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	F	880;840;660	ENSP00000371070:L880F;ENSP00000255283:L840F	ENSP00000255283:L840F	L	+	3	2	ATP8A2	25247058	0.777000	0.28628	0.924000	0.36721	0.966000	0.64601	-0.173000	0.09854	0.430000	0.26230	0.655000	0.94253	TTG		0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26349058	G	T	26349058	3	4	7	1	0	0	0	0	1	0	0	0	1193	1368	48	5	2746	5	ATP8A2	13	26349058	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		26349058	88820820	46	470											
SIX4	51804	broad.mit.edu	37	chr14	61189964	61189964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaggggttcctgtcgcGctgccggcggttcttgaacc	3	10	15	13	5	1	1	0	1	1	0	4	2	2	2	3	5	2	3	3	5	1	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:61189964G>A	ENST00000216513.4	-	1	888	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	277					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTCCTGTCGCGCTGCCGGCGG	0.637																																						uc001xfc.3																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(829-831)Cgc>Tgc		Homo sapiens SIX homeobox 4 (SIX4), mRNA.							35	33	34					14																	61189964		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61189964G>A	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.829C>T	14.37:g.61189964G>A	ENSP00000216513:p.Arg277Cys					SIX4_uc010app.1_Missense_Mutation_p.R269C	p.R277C	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	0	889	-			277					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.829C>T	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450158	0.43531	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.97138	-4.26	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.266108	0.37136	N	0.002235	D	0.98998	0.9658	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.98945	1.0792	10	0.87932	D	0	.	14.0292	0.64604	0.0:0.0:1.0:0.0	.	269;277	G3V2N2;Q9UIU6	.;SIX4_HUMAN	C	277;269	ENSP00000216513:R277C	ENSP00000216513:R277C	R	-	1	0	SIX4	60259717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.511000	0.35801	1.849000	0.53698	0.650000	0.86243	CGC		0.637	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			A	61189964	G	A	61189964	3	1	7	1	0	0	0	0	1	0	0	0	14349	1087	38	1	1528	1	SIX4	14	61189964	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		61189964	46159576	47	471											
ACOT1	641371	broad.mit.edu	37	chr14	74008216	74008216	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgggccctttcctggCattgtggacatgttcggaac	7	11	12	11	1	0	0	0	0	0	0	2	3	1	2	3	4	2	2	3	4	2	3	rs201966235	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:74008216C>G	ENST00000311148.4	+	2	785	c.477C>G	c.(475-477)ggC>ggG	p.G159G	HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|ACOT1_ENST00000557556.1_Silent_p.G159G	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	159					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.G159G(1)		endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCTTTCCTGGCATTGTGGACA	0.463													-|||	62	0.0123802	0.0257	0.0115	5008	,	,		11074	0.002		0.0139	False		,,,				2504	0.0041					uc001xol.1																			1	Substitution - coding silent(1)	p.G159G(1)	endometrium(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(475-477)ggC>ggG		Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.							170	130	144					14																	74008216		1974	3593	5567	SO:0001819	synonymous_variant	641371				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74008216C>G	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.477C>G	14.37:g.74008216C>G						HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.G159G	p.G159G	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	675	+			221					A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.477C>G	CCDS32117.1																																																																																				0.463	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		G	74008216	C	G	74008216	2	3	7	1	0	0	0	0	0	0	0	1	148	697	25	5		5	ACOT1	14	74008216	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	12818252	74008216	33341324	48	472											
AGBL1	123624	broad.mit.edu	37	chr15	86838560	86838560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgttctctgccagacGctgggagggaatccgtgtcc	8	9	13	11	2	1	2	0	0	1	2	4	4	3	4	3	2	1	2	3	2	2	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr15:86838560G>A	ENST00000441037.2	+	16	2252	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	AGBL1_ENST00000421325.2_Silent_p.T719T|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T450T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	719					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCCAGACGCTGGGAGGGA	0.507																																						uc002blz.1																			0		p.T719M(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2155-2157)acG>acA		Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.							90	90	90					15																	86838560		1982	4167	6149	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838560G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2157G>A	15.37:g.86838560G>A						AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	p.T719T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			15	2237	+			719					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2157G>A	CCDS58398.1																																																																																				0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86838560	G	A	86838560	2	1	7	1	0	0	0	0	0	0	0	1	375	1074	38	1		1	AGBL1	15	86838560	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		86838560	15692832	49	473											
ACSM2B	348158	broad.mit.edu	37	chr16	20548636	20548636	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctcgaagtttggttcGttgaattttccctgtgacag	6	17	10	8	2	1	2	0	2	1	0	4	3	2	2	1	1	0	3	1	1	2	6	rs373534792		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:20548636G>A	ENST00000329697.6	-	14	1846	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R481*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R560*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R560*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTTGGTTCGTTGAATTTTC	0.473													g|||	1	0.000199681	0	0	5008	,	,		19409	0		0	False		,,,				2504	0.001					uc002dhj.4																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1678-1680)Cga>Tga		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	0,4404		0,0,2202	255	235	242		1678,1678	2.1	0	16		242	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,	560/578,560/578	20548636	2,13002	2202	4300	6502	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548636G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1678C>T	16.37:g.20548636G>A	ENSP00000327453:p.Arg560*					ACSM2B_uc002dhk.4_Nonsense_Mutation_p.R560*	p.R560*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			14	1888	-			560					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1678C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	2.307	-0.358708	0.05138	0.0	2.33E-4	ENSG00000066813	ENST00000329697	.	.	.	3.09	2.12	0.27331	.	0.000000	0.37577	N	0.002027	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6762	4.5957	0.12329	0.1204:0.0:0.5052:0.3744	.	.	.	.	X	560	.	ENSP00000327453:R560X	R	-	1	2	ACSM2B	20456137	0.001000	0.12720	0.002000	0.10522	0.050000	0.14768	0.213000	0.17521	0.616000	0.30141	0.609000	0.83330	CGA		0.473	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		A	20548636	G	A	20548636	4	1	7	1	0	0	0	0	0	1	0	0	184	1153	40	1	59	1	ACSM2B	16	20548636	Nonsense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		20548636	69806117	50	474											
CACNG3	10368	broad.mit.edu	37	chr16	24366257	24366257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccgcagcagacacaaCgtcattctcagcgcgggcat	10	7	9	15	4	2	1	2	0	1	1	4	1	3	1	2	1	3	3	2	1	1	2	rs147734423		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:24366257C>T	ENST00000005284.3	+	3	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	133					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587																																						uc002dmf.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(397-399)aaC>aaT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.		C		0,4394		0,0,2197	64	55	58		399	-5.2	0.9	16	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		133/316	24366257	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366257C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.399C>T	16.37:g.24366257C>T							p.N133N	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1601	+			133						Silent	SNP	ENST00000005284.3	37	c.399C>T	CCDS10620.1																																																																																				0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24366257	C	T	24366257	2	4	7	1	0	0	0	0	0	0	0	1	2558	535	19	1		1	CACNG3	16	24366257	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	3817621	24366257	65988496	51	475											
ITGAM	3684	broad.mit.edu	37	chr16	31286996	31286996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccattcagaaccagcttCgggagaagatctttgcgatc	12	9	10	10	2	2	4	1	0	1	4	4	6	2	4	2	1	3	1	2	1	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:31286996C>T	ENST00000287497.8	+	9	1060	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	ITGAM_ENST00000544665.3_Missense_Mutation_p.R329W			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	329					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAACCAGCTTCGGGAGAAGAT	0.542																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(985-987)Cgg>Tgg		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							69	70	70					16																	31286996		2006	4182	6188	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31286996C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.985C>T	16.37:g.31286996C>T	ENSP00000287497:p.Arg329Trp					ITGAM_uc002ebq.3_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	p.R329W	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			8	1083	+			329					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.985C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787344	0.70337	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.22539	1.95;1.95	4.51	4.51	0.55191	von Willebrand factor, type A (1);	.	.	.	.	T	0.13713	0.0332	N	0.14661	0.345	0.34454	D	0.701004	P;P	0.49783	0.928;0.928	B;B	0.37650	0.255;0.255	T	0.26258	-1.0108	9	0.87932	D	0	.	16.5139	0.84294	0.0:1.0:0.0:0.0	.	329;329	Q4VAK1;P11215	.;ITAM_HUMAN	W	329	ENSP00000441691:R329W;ENSP00000287497:R329W	ENSP00000287497:R329W	R	+	1	2	ITGAM	31194497	1.000000	0.71417	0.974000	0.42286	0.748000	0.42578	3.436000	0.52856	2.464000	0.83262	0.561000	0.74099	CGG		0.542	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31286996	C	T	31286996	3	4	7	1	0	0	0	0	1	0	0	0	7887	875	31	2	1019	2	ITGAM	16	31286996	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	6920739	31286996	59067757	52	476											
HYDIN	54768	broad.mit.edu	37	chr16	71004595	71004595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctagaccttgcccaCgtgccaggagggtaagcttt	7	10	13	11	1	1	1	0	0	1	1	1	2	1	2	3	3	3	3	3	3	2	4	rs368636754		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:71004595C>T	ENST00000393567.2	-	36	5597	c.5447G>A	c.(5446-5448)cGt>cAt	p.R1816H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1816					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTTGCCCACGTGCCAGGAG	0.507													C|||	1	0.000199681	0	0	5008	,	,		18109	0		0	False		,,,				2504	0.001					uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(5443-5445)cGt>cAt		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							17	15	16					16																	71004595		1776	4023	5799	SO:0001583	missense	54768							g.chr16:71004595C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5447G>A	16.37:g.71004595C>T	ENSP00000377197:p.Arg1816His						p.R1815H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			35	5595	-		Ovarian(137;0.0654)	1816					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.5444G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.177079	0.01633	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.40225	1.04	4.75	1.08	0.20341	.	1.968210	0.03835	U	0.269640	T	0.28067	0.0692	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13442	-1.0509	10	0.32370	T	0.25	.	3.3456	0.07134	0.1204:0.078:0.3274:0.4743	.	1815	F8WD23	.	H	1816;1815	ENSP00000377197:R1816H	ENSP00000310485:R107H	R	-	2	0	HYDIN	69562096	0.012000	0.17670	0.002000	0.10522	0.085000	0.17905	1.611000	0.36879	-0.021000	0.14009	-1.365000	0.01206	CGT		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71004595	C	T	71004595	3	4	7	1	0	0	0	0	1	0	0	0	7467	536	19	1	10122	1	HYDIN	16	71004595	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	39717599	71004595	19350158	53	477											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	7	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		7577538	73617672	54	478											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7578550G>T	ENST00000269305.4	-	5	569	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000420246.2_Missense_Mutation_p.S127Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGGCAGGGGAGTACTGTAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(379-381)tCc>tAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							44	44	44					17																	7578550		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578550G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.380C>A	17.37:g.7578550G>T	ENSP00000269305:p.Ser127Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.3_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88Y	p.S127Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	574	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.380C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276306	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127Y;ENSP00000352610:S127Y;ENSP00000269305:S127Y;ENSP00000398846:S127Y;ENSP00000391127:S127Y;ENSP00000391478:S127Y;ENSP00000423862:S34Y;ENSP00000424104:S127Y;ENSP00000426252:S127Y	ENSP00000269305:S127Y	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578550	G	T	7578550	3	4	7	1	0	0	0	0	1	0	0	0	16378	1174	41	5	918	5	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	1012	7578550	73616660	55	479											
WNT3	7473	broad.mit.edu	37	chr17	44851175	44851175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgatctcgatgtaatTgcggcagaagcgcagttgct	9	10	14	8	3	1	2	0	1	1	1	2	3	1	2	0	2	3	6	0	2	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:44851175T>C	ENST00000225512.5	-	2	343	c.181A>G	c.(181-183)Aat>Gat	p.N61D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	61					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGATGTAATTGCGGCAGAAG	0.657																																						uc002ikv.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(181-183)Aat>Gat		Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.							51	53	53					17																	44851175		2203	4300	6503	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851175T>C	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.181A>G	17.37:g.44851175T>C	ENSP00000225512:p.Asn61Asp						p.N61D	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		1	300	-			61					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.181A>G	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	T	34	5.303718	0.95601	.	.	ENSG00000108379	ENST00000225512	T	0.75367	-0.93	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	L	0.28274	0.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.74250	-0.3726	10	0.26408	T	0.33	.	13.8223	0.63329	0.0:0.0:0.0:1.0	.	61	P56703	WNT3_HUMAN	D	61	ENSP00000225512:N61D	ENSP00000225512:N61D	N	-	1	0	WNT3	42206338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.005000	0.57075	1.852000	0.53769	0.379000	0.24179	AAT		0.657	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		C	44851175	T	C	44851175	3	2	7	1	0	0	0	0	1	0	0	0	17385	1812	63	4	898	4	WNT3	17	44851175	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08	37272625	44851175	36344035	56	480											
C17orf47	284083	broad.mit.edu	37	chr17	56621053	56621053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgattgtaagttattCttctggtcttgaaaactcaa	11	18	7	5	0	4	2	1	2	3	0	4	2	4	2	0	1	1	2	0	1	5	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:56621053C>A	ENST00000321691.3	-	1	676	c.495G>T	c.(493-495)aaG>aaT	p.K165N	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	165										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAAGTTATTCTTCTGGTCTT	0.478																																						uc002iwq.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(493-495)aaG>aaT		Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.							122	124	123					17																	56621053		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621053C>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.495G>T	17.37:g.56621053C>A	ENSP00000354874:p.Lys165Asn					SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	p.K165N	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			0	681	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		165					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.495G>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011709	0.54468	.	.	ENSG00000181013	ENST00000321691	T	0.39997	1.05	5.41	2.24	0.28232	.	0.088928	0.48767	D	0.000163	T	0.43033	0.1229	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.12066	-1.0562	10	0.51188	T	0.08	-20.3195	5.7711	0.18253	0.0:0.6651:0.1583:0.1766	.	165	Q8NEP4	CQ047_HUMAN	N	165	ENSP00000354874:K165N	ENSP00000354874:K165N	K	-	3	2	C17orf47	53976052	0.763000	0.28462	0.969000	0.41365	0.196000	0.23810	0.025000	0.13577	0.669000	0.31146	0.655000	0.94253	AAG		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		A	56621053	C	A	56621053	3	1	7	1	0	0	0	0	1	0	0	0	1858	912	32	5	1225	5	C17orf47	17	56621053	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	11769878	56621053	24574157	57	481											
CD300A	11314	broad.mit.edu	37	chr17	72469900	72469900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacctcagcttcacagtgaCcctggagaatctcacagagg	13	7	9	12	0	3	3	3	1	1	2	4	4	3	3	2	2	2	1	2	2	2	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:72469900C>T	ENST00000360141.3	+	2	554	c.266C>T	c.(265-267)aCc>aTc	p.T89I	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	89	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCACAGTGACCCTGGAGAAT	0.537																																						uc002jkv.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(265-267)aCc>aTc		Homo sapiens CD300a molecule (CD300A), mRNA.							146	134	138					17																	72469900		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469900C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.266C>T	17.37:g.72469900C>T	ENSP00000353259:p.Thr89Ile					CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	p.T89I	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			1	587	+			89			Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.266C>T	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825937	0.32237	.	.	ENSG00000167851	ENST00000360141	T	0.69435	-0.4	4.06	3.06	0.35304	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.319059	0.21838	N	0.068364	T	0.78947	0.4364	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.78534	-0.2167	10	0.54805	T	0.06	.	9.5533	0.39324	0.2112:0.7888:0.0:0.0	.	89	Q9UGN4	CLM8_HUMAN	I	89	ENSP00000353259:T89I	ENSP00000353259:T89I	T	+	2	0	CD300A	69981495	0.999000	0.42202	0.985000	0.45067	0.084000	0.17831	4.114000	0.57858	0.971000	0.38288	0.305000	0.20034	ACC		0.537	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		T	72469900	C	T	72469900	3	4	7	1	0	0	0	0	1	0	0	0	2996	507	18	3	272	3	CD300A	17	72469900	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	15848847	72469900	8725310	58	482											
THEG	51298	broad.mit.edu	37	chr19	375850	375850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcggggtctgtgacccGccggctctcgtacacagagc	5	8	14	14	5	2	2	0	1	2	1	4	2	2	2	2	3	2	3	2	3	1	2	rs575728371		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:375850G>A	ENST00000342640.4	-	1	163	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	THEG_ENST00000346878.2_Missense_Mutation_p.R41W	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	41					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGACCCGCCGGCTCTCG	0.672													G|||	1	0.000199681	0	0	5008	,	,		13741	0		0	False		,,,				2504	0.001					uc002lol.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(121-123)Cgg>Tgg		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							40	46	44					19																	375850		2203	4299	6502	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375850G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.121C>T	19.37:g.375850G>A	ENSP00000340088:p.Arg41Trp					THEG_uc002lom.3_Missense_Mutation_p.R41W	p.R41W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	164	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	41					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.121C>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620140	0.46736	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.21191	2.02;2.03	3.08	-1.07	0.09968	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.29731	-1.0002	9	0.59425	D	0.04	-11.1728	4.7141	0.12887	0.2422:0.2849:0.4729:0.0	.	41;41	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	W	41	ENSP00000340088:R41W;ENSP00000264820:R41W	ENSP00000340088:R41W	R	-	1	2	THEG	326850	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.034000	0.03567	-0.120000	0.11809	0.561000	0.74099	CGG		0.672	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			A	375850	G	A	375850	3	1	7	1	0	0	0	0	1	0	0	0	15854	1086	38	1	1050	1	THEG	19	375850	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		375850	58753133	59	483											
EEF2	1938	broad.mit.edu	37	chr19	3980665	3980665	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttggcaccattttggaaAtatacatcataagagggcct	13	11	10	7	0	1	1	1	0	0	1	1	2	1	2	2	4	1	2	2	4	4	6			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:3980665A>C	ENST00000309311.6	-	9	1281	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	398					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTTGGAAATATACATCAT	0.527																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.3																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1192-1194)aTt>aGt		Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.							82	82	82					19																	3980665		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980665A>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1193T>G	19.37:g.3980665A>C	ENSP00000307940:p.Ile398Ser						p.I398S	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1276	-		Hepatocellular(1079;0.137)	398					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.1193T>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.852893	0.91355	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.83250	-1.7	5.66	5.66	0.87406	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.88658	0.6496	M	0.93808	3.46	0.80722	D	1	D	0.54397	0.966	P	0.44860	0.462	D	0.91652	0.5335	10	0.87932	D	0	-24.1334	15.0645	0.71983	1.0:0.0:0.0:0.0	.	398	P13639	EF2_HUMAN	S	398	ENSP00000307940:I398S	ENSP00000307940:I398S	I	-	2	0	EEF2	3931665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.283000	0.95860	2.159000	0.67721	0.459000	0.35465	ATT		0.527	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		C	3980665	A	C	3980665	3	2	7	1	0	0	0	0	1	0	0	0	4929	101	4	5	1411	5	EEF2	19	3980665	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	3604815	3980665	55148318	60	484											
MUC16	94025	broad.mit.edu	37	chr19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaattgtcccagaaaccGttgtgctggtttctgcagga	8	12	13	8	1	1	1	0	0	1	1	2	3	2	3	2	3	3	4	2	3	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9046871G>A	ENST00000397910.4	-	5	34963	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11589	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAAACCGTTGTGCTGGT	0.522																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34759-34761)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							138	135	136					19																	9046871		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046871G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34760C>T	19.37:g.9046871G>A	ENSP00000381008:p.Thr11587Met						p.T11587M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34964	-			11589			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34760C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.826	-0.470961	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.02067	4.47	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01976	0.0062	L	0.38838	1.175	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.42582	-0.9443	8	0.87932	D	0	.	5.8913	0.18915	0.196:0.0:0.6722:0.1318	.	11587	B5ME49	.	M	11587	ENSP00000381008:T11587M	ENSP00000381008:T11587M	T	-	2	0	MUC16	8907871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.521000	0.02239	-1.083000	0.03097	-3.395000	0.00039	ACG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9046871	G	A	9046871	3	1	7	1	0	0	0	0	1	0	0	0	9973	1145	40	1	9083	1	MUC16	19	9046871	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	5066206	9046871	50082112	61	485											
OR7E24	26648	broad.mit.edu	37	chr19	9361873	9361873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgggctgttcctgtccAtgtacctggtcacggtgctg	3	13	13	12	2	1	0	1	0	0	0	4	0	3	0	3	3	2	5	3	3	1	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9361873A>G	ENST00000456448.1	+	1	268	c.154A>G	c.(154-156)Atg>Gtg	p.M52V		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTTCCTGTCCATGTACCTGGT	0.577																																						uc002mlb.1																			0		p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(154-156)Atg>Gtg		Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.							49	48	48					19																	9361873		2203	4300	6503	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361873A>G	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.154A>G	19.37:g.9361873A>G	ENSP00000387523:p.Met52Val						p.M52V	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			0	154	+			52					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.154A>G	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	4.119	0.020335	0.08006	.	.	ENSG00000237521	ENST00000456448	T	0.00421	7.46	2.39	1.35	0.21983	.	.	.	.	.	T	0.00241	0.0007	N	0.20766	0.605	0.09310	N	1	B	0.22909	0.077	B	0.19666	0.026	T	0.40289	-0.9571	9	0.62326	D	0.03	.	6.0333	0.19692	0.8606:0.0:0.1394:0.0	.	52	Q6IFN5	O7E24_HUMAN	V	52	ENSP00000387523:M52V	ENSP00000387523:M52V	M	+	1	0	OR7E24	9222873	0.001000	0.12720	0.744000	0.31058	0.507000	0.33981	0.375000	0.20518	0.194000	0.20326	0.358000	0.22013	ATG		0.577	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			G	9361873	A	G	9361873	3	3	7	1	0	0	0	0	1	0	0	0	11221	217	8	4	156	4	OR7E24	19	9361873	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	315002	9361873	49767110	62	486											
ATP13A1	57130	broad.mit.edu	37	chr19	19756294	19756294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacgcggtcggccaggagCgccaggcagaagtccaggag	10	2	18	11	4	0	1	0	0	0	1	2	4	1	4	3	6	1	1	3	6	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:19756294C>T	ENST00000357324.6	-	26	3578	c.3552G>A	c.(3550-3552)gcG>gcA	p.A1184A	ATP13A1_ENST00000291503.5_Silent_p.A1066A|GMIP_ENST00000203556.4_5'Flank|GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000445806.2_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1184						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGCCAGGAGCGCCAGGCAGA	0.647																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.4																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(3550-3552)gcG>gcA		Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.							38	39	38					19																	19756294		2201	4298	6499	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756294C>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3552G>A	19.37:g.19756294C>T						GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Silent_p.A324A|ATP13A1_uc002nnf.4_Silent_p.A552A|ATP13A1_uc002nng.3_Silent_p.A1066A	p.A1184A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			25	3580	-			1184					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.3552G>A	CCDS32970.2																																																																																				0.647	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		T	19756294	C	T	19756294	2	4	7	1	0	0	0	0	0	0	0	1	1123	755	27	1		1	ATP13A1	19	19756294	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	10394421	19756294	39372689	63	487											
ZNF681	148213	broad.mit.edu	37	chr19	23927494	23927494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattaaaggctttgtcacaTtcttcacgtttgtagggatt	9	17	9	6	1	3	1	2	1	1	0	3	2	3	2	0	2	0	3	0	2	3	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:23927494T>C	ENST00000402377.3	-	4	999	c.858A>G	c.(856-858)gaA>gaG	p.E286E	ZNF681_ENST00000395385.3_Silent_p.E217E	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGTCACATTCTTCACGTT	0.363																																						uc002nrk.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(856-858)gaA>gaG		Homo sapiens zinc finger protein 681 (ZNF681), mRNA.							136	140	139					19																	23927494		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927494T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.858A>G	19.37:g.23927494T>C						ZNF681_uc002nrl.4_Silent_p.E217E|ZNF681_uc002nrj.4_Silent_p.E217E	p.E286E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			3	1000	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	286					B3KVF7	Silent	SNP	ENST00000402377.3	37	c.858A>G	CCDS12414.2																																																																																				0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		C	23927494	T	C	23927494	2	2	7	1	0	0	0	0	0	0	0	1	18085	1490	52	4		4	ZNF681	19	23927494	Silent	SNP	T	TCGA-02-2485-01A-01D-1494-08	4171200	23927494	35201489	64	488											
ZNF571	51276	broad.mit.edu	37	chr19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-																															cctgaatgaactctcaggtgGtaagtaagttgtgagccacg																								rs531640879	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:38056190_38056193delGTAA	ENST00000328550.2	-	4	1236_1239	c.1137_1140delTTAC	c.(1135-1140)acttacfs	p.TY379fs	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Frame_Shift_Del_p.TY379fs|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377														5	0.000998403	0	0	5008	,	,		22055	0		0	False		,,,				2504	0.0051					uc002ogs.1																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25								Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.																																				SO:0001589	frameshift_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056190_38056193delGTAA	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1137_1140delTTAC	19.37:g.38056194_38056197delGTAA	ENSP00000333660:p.Thr379fs					LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs				Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				-								Q2HIY0|Q3ZCU3|Q9NZX7	Frame_Shift_Del	DEL	ENST00000328550.2	37		CCDS12505.1																																																																																				0.377	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		-	38056193	GTAA	-	38056190	7	5	7	1	0	1	0	1	0	0	0	0	18000	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-02-2485-01A-01D-1494-08	14128696	38056190	21072793	65	489											
EXOSC5	56915	broad.mit.edu	37	chr19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagcaggttctgttcgcagGcaaagtgccggaggctgcag	9	7	15	10	2	1	0	0	0	1	0	2	1	1	1	1	4	3	7	1	4	1	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582																																						uc002oqo.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(94-96)gCc>gTc		Homo sapiens exosome component 5 (EXOSC5), mRNA.							129	122	124					19																	41903139		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903139G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.95C>T	19.37:g.41903139G>A	ENSP00000221233:p.Ala32Val					BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank	p.A32V	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			0	118	-			32					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.95C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819174	0.50633	.	.	ENSG00000077348	ENST00000221233	T	0.63580	-0.05	5.55	4.52	0.55395	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	N	0.000054	T	0.36963	0.0986	N	0.05351	-0.065	0.38224	D	0.940854	B	0.26547	0.152	B	0.17098	0.017	T	0.32322	-0.9911	10	0.31617	T	0.26	-17.2989	8.2921	0.31963	0.1727:0.0:0.8273:0.0	.	32	Q9NQT4	EXOS5_HUMAN	V	32	ENSP00000221233:A32V	ENSP00000221233:A32V	A	-	2	0	EXOSC5	46594979	0.997000	0.39634	0.992000	0.48379	0.964000	0.63967	2.911000	0.48774	1.579000	0.49836	0.590000	0.80494	GCC		0.582	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		A	41903139	G	A	41903139	3	1	7	1	0	0	0	0	1	0	0	0	5318	1203	42	3	636	3	EXOSC5	19	41903139	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	3846949	41903139	17225844	66	490											
IRGC	56269	broad.mit.edu	37	chr19	44222975	44222975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcggctctcacgggcGtcatggagaccacgatgcaa	8	6	14	13	5	2	1	2	0	1	1	3	3	2	1	1	4	1	2	1	4	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:44222975G>A	ENST00000244314.5	+	2	464	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	89	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCACGGGCGTCATGGAGAC	0.701																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.3																			0		p.G88G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(265-267)Gtc>Atc		Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.							39	38	38					19																	44222975		2203	4300	6503	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222975G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.265G>A	19.37:g.44222975G>A	ENSP00000244314:p.Val89Ile					IRGC_uc021uvh.1_Missense_Mutation_p.V89I	p.V89I	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			1	412	+		Prostate(69;0.0435)	89					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.265G>A	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753284	0.49362	.	.	ENSG00000124449	ENST00000244314	T	0.11604	2.76	5.45	5.45	0.79879	.	0.412450	0.21653	N	0.071155	T	0.32645	0.0836	M	0.72479	2.2	0.24286	N	0.995189	D	0.76494	0.999	D	0.67103	0.949	T	0.06127	-1.0844	10	0.72032	D	0.01	.	16.8353	0.85955	0.0:0.0:1.0:0.0	.	89	Q6NXR0	IIGP5_HUMAN	I	89	ENSP00000244314:V89I	ENSP00000244314:V89I	V	+	1	0	IRGC	48914815	0.999000	0.42202	0.527000	0.27925	0.185000	0.23345	3.636000	0.54317	2.560000	0.86352	0.555000	0.69702	GTC		0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		A	44222975	G	A	44222975	3	1	7	1	0	0	0	0	1	0	0	0	7838	1145	40	1	267	1	IRGC	19	44222975	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	2319836	44222975	14906008	67	491											
EXOC3L2	90332	broad.mit.edu	37	chr19	45728158	45728158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccccacccgggccaggcGctcggccagagctctgtggg	4	4	17	16	3	1	1	0	0	1	1	2	1	1	1	5	5	1	2	5	5	0	0	rs202169742		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:45728158G>A	ENST00000252482.3	-	5	445	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.R140C			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	140					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CGGGCCAGGCGCTCGGCCAGA	0.637																																						uc002pay.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(418-420)Cgc>Tgc		Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.		G	CYS/ARG	1,4403		0,1,2201	16	17	17		418	4.3	1	19		17	0,8588		0,0,4294	yes	missense	EXOC3L2	NM_138568.3	180	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/410	45728158	1,12991	2202	4294	6496	SO:0001583	missense	90332							g.chr19:45728158G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.418C>T	19.37:g.45728158G>A	ENSP00000252482:p.Arg140Cys						p.R140C	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	5	459	-		all_neural(266;0.224)|Ovarian(192;0.231)	140					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.418C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869273	0.72065	2.27E-4	0.0	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.07021	3.23;3.23	4.3	4.3	0.51218	.	0.423027	0.25517	N	0.030125	T	0.23688	0.0573	L	0.56769	1.78	0.46521	D	0.999082	D	0.89917	1.0	D	0.77004	0.989	T	0.00339	-1.1805	10	0.62326	D	0.03	.	12.953	0.58411	0.0:0.0:1.0:0.0	.	140	Q2M3D2	EX3L2_HUMAN	C	140	ENSP00000252482:R140C;ENSP00000400713:R140C	ENSP00000252482:R140C	R	-	1	0	EXOC3L2	50419998	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.153000	0.50685	2.324000	0.78689	0.561000	0.74099	CGC		0.637	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		A	45728158	G	A	45728158	3	1	7	1	0	0	0	0	1	0	0	0	5305	1087	38	1	831	1	EXOC3L2	19	45728158	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	1505183	45728158	13400825	68	492											
LILRB2	10288	broad.mit.edu	37	chr19	54783691	54783691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagctcagaccaccgagCgcggctgtaatactgacagc	11	6	11	13	3	1	3	1	2	0	1	1	4	1	3	2	1	4	3	2	1	2	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:54783691C>T	ENST00000391749.4	-	4	581	c.310G>A	c.(310-312)Gct>Act	p.A104T	MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.A104T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A104T|LILRB2_ENST00000391748.1_Missense_Mutation_p.A104T|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	104	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.A104S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCGAGCGCGGCTGTAA	0.592																																						uc002qfb.3																			1	Substitution - Missense(1)	p.A104S(2)	upper_aerodigestive_tract(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(310-312)Gct>Act		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.							122	120	121					19																	54783691		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783691C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.310G>A	19.37:g.54783691C>T	ENSP00000375629:p.Ala104Thr					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.A104T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.A104T|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	p.A104T	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	576	-	Ovarian(34;0.19)		104			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.310G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.748638	0.00669	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	1.76	-3.51	0.04696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.791320	0.02944	N	0.140821	T	0.04588	0.0125	N	0.04636	-0.2	0.09310	N	0.999997	B;B;B	0.15930	0.015;0.003;0.001	B;B;B	0.12837	0.008;0.006;0.002	T	0.32107	-0.9919	10	0.09590	T	0.72	.	5.437	0.16486	0.2315:0.5356:0.0:0.2329	.	104;121;104	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	T	104	ENSP00000375628:A104T;ENSP00000319960:A104T;ENSP00000375629:A104T;ENSP00000375626:A104T	ENSP00000319960:A104T	A	-	1	0	LILRB2	59475503	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.675000	0.00032	-4.220000	0.00064	-4.267000	0.00008	GCT		0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54783691	C	T	54783691	3	4	7	1	0	0	0	0	1	0	0	0	8791	768	27	1	1530	1	LILRB2	19	54783691	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	9055533	54783691	4345292	69	493											
KIR2DL3	3804	broad.mit.edu	37	chr19	55255258	55255260	+	In_Frame_Del	DEL	CTT	CTT	-																															tccaggtctatatgagaaacCttctctctcagcccagccgg																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:55255258_55255260delCTT	ENST00000342376.3	+	4	417_419	c.386_388delCTT	c.(385-390)ccttct>cct	p.S130del	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_In_Frame_Del_p.S130del|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	130					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TATGAGAAACCTTCTCTCTCAGC	0.562																																						uc002qgx.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(385-390)ccttct>cct		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.																																				SO:0001651	inframe_deletion	3804				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55255258_55255260delCTT	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.386_388delCTT	19.37:g.55255258_55255260delCTT	ENSP00000342215:p.Ser130del					KIR2DL1_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL1_uc002qha.1_Intron	p.S130del	NM_015868	NP_056952	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	423_425	+			130					O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	In_Frame_Del	DEL	ENST00000342376.3	37	c.386_388delCTT	CCDS33107.1																																																																																				0.562	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			-	55255260	CTT	-	55255258	7	5	7	1	0	1	0	1	0	0	0	0	8317	681	24	0	400	0	KIR2DL3	19	55255258	In_Frame_Del	DEL	CTT	TCGA-02-2485-01A-01D-1494-08	471567	55255258	3873725	70	494											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299253	61299253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacggagacgaatgtggaCggccagaaggtgagtggagc	11	4	18	8	3	0	3	0	1	0	2	0	7	0	5	2	5	1	0	2	5	2	0	rs138089582	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr20:61299253C>T	ENST00000370507.1	+	7	1725	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.D543D|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	543	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGAATGTGGACGGCCAGAAGG	0.647													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17239	0		0	False		,,,				2504	0				Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1627-1629)gaC>gaT		Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.		C		15,4391	22.3+/-47.3	0,15,2188	77	74	75		1629	-9.9	0	20	dbSNP_134	75	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	SLCO4A1	NM_016354.3		0,22,6481	TT,TC,CC		0.0814,0.3404,0.1692		543/723	61299253	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61299253C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1629C>T	20.37:g.61299253C>T						LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	p.D543D	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		7	1834	+	Breast(26;3.65e-08)		543			Kazal-like.		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1629C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	7.898	0.733871	0.15574	0.003404	8.14E-4	ENSG00000101187	ENST00000451793	T	0.38077	1.16	4.93	-9.87	0.00470	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.24421	N	0.994615	.	.	.	.	.	.	T	0.46775	-0.9167	6	0.66056	D	0.02	.	6.1685	0.20404	0.0725:0.1657:0.1553:0.6064	.	.	.	.	M	30	ENSP00000414855:T30M	ENSP00000414855:T30M	T	+	2	0	SLCO4A1	60769698	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.133000	0.03232	-3.087000	0.00249	-2.395000	0.00226	ACG		0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61299253	C	T	61299253	2	4	7	1	0	0	0	0	0	0	0	1	14729	535	19	1		1	SLCO4A1	20	61299253	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		61299253	1726267	71	495											
KIAA1644	85352	broad.mit.edu	37	chr22	44692617	44692617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgcctggaactccgtctcGttgcagcagtatttgaagac	9	10	10	12	3	1	2	0	1	1	1	3	3	2	3	3	1	3	4	3	1	3	3	rs373946331		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr22:44692617G>A	ENST00000381176.4	-	3	348	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	72						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTCCGTCTCGTTGCAGCAGT	0.582																																						uc003bet.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(214-216)aaC>aaT		Homo sapiens KIAA1644 (KIAA1644), mRNA.							143	158	153					22																	44692617		2150	4248	6398	SO:0001819	synonymous_variant	85352					integral to membrane		g.chr22:44692617G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.216C>T	22.37:g.44692617G>A							p.N72N	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			2	349	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	72					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	c.216C>T	CCDS43025.1																																																																																				0.582	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		A	44692617	G	A	44692617	2	1	7	1	0	0	0	0	0	0	0	1	8250	1136	40	1		1	KIAA1644	22	44692617	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		44692617	6611949	72	496											
PRPS2	5634	broad.mit.edu	37	chrX	12828240	12828240	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgtatcattgttTcacctgacgcagggggagcc	10	9	13	9	1	2	2	2	1	0	1	2	4	2	4	2	3	2	3	2	3	3	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:12828240T>A	ENST00000380668.5	+	4	633	c.505T>A	c.(505-507)Tca>Aca	p.S169T	PRPS2_ENST00000398491.2_Missense_Mutation_p.S172T|PRPS2_ENST00000489404.1_Missense_Mutation_p.S169T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	169					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TATCATTGTTTCACCTGACGC	0.463																																						uc004cva.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(514-516)Tca>Aca		Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.							111	95	101					X																	12828240		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12828240T>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.505T>A	X.37:g.12828240T>A	ENSP00000370043:p.Ser169Thr					PRPS2_uc004cvb.3_Missense_Mutation_p.S169T|PRPS2_uc010nec.3_Missense_Mutation_p.S105T	p.S172T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN			3	657	+			169					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.514T>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290454	0.40494	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D;D;D;T	0.96651	-3.12;-3.12;-4.08;-0.76	4.91	4.91	0.64330	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	H	0.94771	3.58	0.80722	D	1	P;P	0.41366	0.747;0.703	P;B	0.48368	0.575;0.439	D	0.98715	1.0706	10	0.87932	D	0	-10.9179	14.0079	0.64475	0.0:0.0:0.0:1.0	.	169;172	P11908;P11908-2	PRPS2_HUMAN;.	T	169;172;169;82;59	ENSP00000370043:S169T;ENSP00000381504:S172T;ENSP00000419380:S169T;ENSP00000418911:S82T	ENSP00000370043:S169T	S	+	1	0	PRPS2	12738161	1.000000	0.71417	0.733000	0.30861	0.366000	0.29705	7.538000	0.82048	1.754000	0.51921	0.483000	0.47432	TCA		0.463	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		A	12828240	T	A	12828240	3	1	7	1	0	0	0	0	1	0	0	0	12580	1783	62	5	528	5	PRPS2	23	12828240	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08		12828240	142442320	73	497											
MSN	4478	broad.mit.edu	37	chrX	64949532	64949532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttcaataaggaagtgcAtaagtctggctacctggccg	11	9	11	10	2	2	0	1	0	1	0	2	2	2	1	2	3	2	2	2	3	5	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:64949532A>G	ENST00000360270.5	+	4	597	c.425A>G	c.(424-426)cAt>cGt	p.H142R		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	142	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AAGGAAGTGCATAAGTCTGGC	0.562			T	ALK	ALCL																																	uc004dwf.3				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(424-426)cAt>cGt		Homo sapiens moesin (MSN), mRNA.							65	46	53					X																	64949532		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949532A>G	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.425A>G	X.37:g.64949532A>G	ENSP00000353408:p.His142Arg						p.H142R	NM_002444	NP_002435	P26038	MOES_HUMAN			3	623	+			142			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.425A>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489285	0.64074	.	.	ENSG00000147065	ENST00000360270	D	0.84223	-1.82	5.85	5.85	0.93711	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.086699	0.85682	D	0.000000	D	0.92779	0.7704	H	0.95780	3.72	0.80722	D	1	B	0.23316	0.083	B	0.42522	0.39	D	0.92124	0.5706	10	0.72032	D	0.01	.	13.964	0.64199	1.0:0.0:0.0:0.0	.	142	P26038	MOES_HUMAN	R	142	ENSP00000353408:H142R	ENSP00000353408:H142R	H	+	2	0	MSN	64866257	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.237000	0.95368	1.984000	0.57885	0.430000	0.28490	CAT		0.562	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		G	64949532	A	G	64949532	3	3	7	1	0	0	0	0	1	0	0	0	9885	217	8	4	439	4	MSN	23	64949532	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	52121292	64949532	90321028	74	498											
HEPH	9843	broad.mit.edu	37	chrX	65486458	65486458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacagagaaagctacgaCgcaataggaggtccatcctg	14	6	11	10	3	0	1	0	0	0	1	3	5	2	2	2	2	2	2	2	2	4	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:65486458C>T	ENST00000343002.2	+	20	4085	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	HEPH_ENST00000419594.1_Missense_Mutation_p.R952C|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143C|HEPH_ENST00000519389.1_Missense_Mutation_p.R1195C|HEPH_ENST00000336279.5_Missense_Mutation_p.R874C|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144C			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498																																						uc011moz.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3583-3585)Cgc>Tgc		Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.							240	164	190					X																	65486458		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486458C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3421C>T	X.37:g.65486458C>T	ENSP00000343939:p.Arg1141Cys					HEPH_uc004dwn.3_Missense_Mutation_p.R1143C|HEPH_uc004dwo.3_Missense_Mutation_p.R874C|HEPH_uc010nkr.3_Missense_Mutation_p.R952C|HEPH_uc011mpa.2_Missense_Mutation_p.R1144C	p.R1195C	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN			20	3720	+			1141					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3583C>T		.	.	.	.	.	.	.	.	.	.	.	18.62	3.663560	0.67700	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99353	-5.77;-5.74;-5.73;-5.73;-5.77;-5.73	5.6	4.68	0.58851	.	0.113219	0.40385	N	0.001118	D	0.98457	0.9486	L	0.29908	0.895	0.44852	D	0.997861	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.61800	0.869;0.889;0.894	D	0.98256	1.0496	10	0.87932	D	0	.	11.3447	0.49554	0.1808:0.8192:0.0:0.0	.	1195;952;1141	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	C	1195;1144;874;1143;952;1141	ENSP00000430620:R1195C;ENSP00000363859:R1144C;ENSP00000337418:R874C;ENSP00000411687:R1143C;ENSP00000413211:R952C;ENSP00000343939:R1141C	ENSP00000337418:R874C	R	+	1	0	HEPH	65403183	0.988000	0.35896	0.931000	0.37212	0.716000	0.41182	2.856000	0.48341	2.354000	0.79902	0.600000	0.82982	CGC		0.498	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65486458	C	T	65486458	3	4	7	1	0	0	0	0	1	0	0	0	7054	536	19	1	3665	1	HEPH	23	65486458	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	536926	65486458	89784102	75	499											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299891	125299891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccgtttcctgctacctGtttgctgctgggccatggtg	2	16	11	12	1	0	0	0	0	0	0	2	0	2	0	4	2	4	5	4	2	1	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:125299891G>T	ENST00000360028.2	-	1	43	c.17C>A	c.(16-18)aCa>aAa	p.T6K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.T6K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	6										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGCTACCTGTTTGCTGCTG	0.776																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(16-18)aCa>aAa		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							9	11	11					X																	125299891		1979	3914	5893	SO:0001583	missense	340578							g.chrX:125299891G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.17C>A	X.37:g.125299891G>T	ENSP00000353128:p.Thr6Lys						p.T6K	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	190	-			6					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.17C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	16.40	3.113186	0.56398	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.20069	2.1;2.1	3.17	3.17	0.36434	.	.	.	.	.	T	0.19525	0.0469	M	0.63428	1.95	0.29615	N	0.846629	B	0.34103	0.437	B	0.27608	0.081	T	0.07809	-1.0753	9	0.39692	T	0.17	.	8.9721	0.35912	0.0:0.0:1.0:0.0	.	6	Q5VW00	DC122_HUMAN	K	6	ENSP00000441489:T6K;ENSP00000353128:T6K	ENSP00000353128:T6K	T	-	2	0	DCAF12L2	125127572	1.000000	0.71417	0.989000	0.46669	0.938000	0.57974	1.762000	0.38451	1.851000	0.53745	0.464000	0.42555	ACA		0.776	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299891	G	T	125299891	3	4	7	1	0	0	0	0	1	0	0	0	4265	1377	48	5	1378	5	DCAF12L2	23	125299891	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	59813433	125299891	29970669	76	500											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907709	12907709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgatagacgttgaCgtttcgagggcactacagcc	8	12	11	10	3	0	3	0	2	0	1	2	4	1	3	2	1	2	4	2	1	2	5	rs4026148		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907709C>T	ENST00000317869.6	-	2	659	c.434G>A	c.(433-435)cGt>cAt	p.R145H		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R145H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TAGACGTTGACGTTTCGAGGG	0.483																																						uc010obf.2																			1	Substitution - Missense(1)	p.R145H(1)	endometrium(1)								c.(433-435)cGt>cAt		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							119	123	121					1																	12907709		2202	4299	6501	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907709C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.434G>A	1.37:g.12907709C>T	ENSP00000365370:p.Arg145His					LOC649330_uc009vno.2_Missense_Mutation_p.R145H	p.R145H	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	660	-			145					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.434G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	7.204	0.594122	0.13875	.	.	ENSG00000179172	ENST00000317869	T	0.17528	2.27	0.943	-1.24	0.09435	.	0.090746	0.39146	U	0.001453	T	0.13670	0.0331	M	0.64997	1.995	0.25247	N	0.989707	B	0.28636	0.218	B	0.26094	0.066	T	0.13176	-1.0519	10	0.54805	T	0.06	.	4.4164	0.11459	0.0:0.5144:0.0:0.4856	rs4026148	145	O60812	HNRCL_HUMAN	H	145	ENSP00000365370:R145H	ENSP00000365370:R145H	R	-	2	0	HNRNPCL1	12830296	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	3.319000	0.51983	-0.205000	0.10219	-0.482000	0.04802	CGT		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		T	12907709	C	T	12907709	3	4	8	1	0	0	0	0	1	0	0	0	7263	536	19	1	449	1	HNRNPCL1	1	12907709	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		12907709	236342912	1	501											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907886	12907886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggttcacttttggctctGcagccaggttaatatctaca	8	14	8	11	1	3	0	1	0	2	0	4	0	3	0	1	3	3	4	1	3	3	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907886G>A	ENST00000317869.6	-	2	482	c.257C>T	c.(256-258)gCa>gTa	p.A86V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	86	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTTGGCTCTGCAGCCAGGTT	0.488																																						uc010obf.2																			0											c.(256-258)gCa>gTa		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							126	126	126					1																	12907886		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907886G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.257C>T	1.37:g.12907886G>A	ENSP00000365370:p.Ala86Val					LOC649330_uc009vno.2_Missense_Mutation_p.A86V	p.A86V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	483	-			86					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.257C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026608	0.35797	.	.	ENSG00000179172	ENST00000317869	T	0.40476	1.03	1.09	0.0897	0.14460	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.306697	0.23030	U	0.052742	T	0.20292	0.0488	N	0.12182	0.205	0.34094	D	0.661066	B	0.14012	0.009	B	0.16722	0.016	T	0.06679	-1.0813	10	0.41790	T	0.15	.	5.4367	0.16486	0.2228:0.0:0.7772:0.0	.	86	O60812	HNRCL_HUMAN	V	86	ENSP00000365370:A86V	ENSP00000365370:A86V	A	-	2	0	HNRNPCL1	12830473	0.220000	0.23631	0.550000	0.28217	0.004000	0.04260	-0.077000	0.11394	0.039000	0.15632	-0.482000	0.04802	GCA		0.488	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		A	12907886	G	A	12907886	3	1	8	1	0	0	0	0	1	0	0	0	7263	1319	46	3	626	3	HNRNPCL1	1	12907886	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	177	12907886	236342735	2	502											
HSPG2	3339	broad.mit.edu	37	chr1	22216489	22216489	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgtgcccaggcgtcGgaactggaatccctggggag	7	7	14	13	2	1	0	1	0	0	0	3	3	2	3	3	5	2	0	3	5	2	0			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:22216489G>A	ENST00000374695.3	-	6	638	c.559C>T	c.(559-561)Cga>Tga	p.R187*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	187	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCAGGCGTCGGAACTGGAAT	0.612																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(559-561)Cga>Tga		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						113	104	107					1																	22216489		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216489G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.559C>T	1.37:g.22216489G>A	ENSP00000363827:p.Arg187*					HSPG2_uc001bfj.3_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S	p.R187*	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	5	599	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	187			SEA.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.559C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371172	0.82573	.	.	ENSG00000142798	ENST00000374695;ENST00000439717	.	.	.	5.53	4.56	0.56223	.	0.000000	0.32935	N	0.005480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.393	0.60834	0.0:0.0:0.8338:0.1662	.	.	.	.	X	187;153	.	ENSP00000363827:R187X	R	-	1	2	HSPG2	22089076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.924000	0.63418	2.879000	0.98667	0.650000	0.86243	CGA		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22216489	G	A	22216489	4	1	8	1	0	0	0	0	0	1	0	0	7430	1124	39	2	12984	2	HSPG2	1	22216489	Nonsense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	9308603	22216489	227034132	3	503											
SLC2A1	6513	broad.mit.edu	37	chr1	43396355	43396355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtgcccagggccccaCgaagggctgtgggtgacact	7	5	17	12	1	0	1	0	1	0	0	0	2	0	1	3	4	1	2	3	4	1	0			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:43396355C>T	ENST00000426263.3	-	4	636	c.458G>A	c.(457-459)cGt>cAt	p.R153H	SLC2A1_ENST00000372500.3_Missense_Mutation_p.R153H|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	153			R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity). {ECO:0000269|PubMed:12325075, ECO:0000269|PubMed:15622525}.|R -> H (in GLUT1DS2). {ECO:0000269|PubMed:20129935}.		carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CAGGGCCCCACGAAGGGCTGT	0.647																																						uc001cik.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	GRCh37	CM077636	SLC2A1	M		c.(457-459)cGt>cAt		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	Etomidate(DB00292)						34	32	33					1																	43396355		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396355C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.458G>A	1.37:g.43396355C>T	ENSP00000416293:p.Arg153His						p.R153H	NM_006516	NP_006507	P11166	GTR1_HUMAN			3	983	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	153		R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).|R -> H (in GLUT1DS2).			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.458G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231153	0.95207	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722;ENST00000372500	D;D;D	0.82433	-1.61;-1.61;-1.61	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96970	0.9708	10	0.87932	D	0	.	16.8737	0.86046	0.0:1.0:0.0:0.0	.	153	P11166	GTR1_HUMAN	H	153;153;118;58;153	ENSP00000416293:R153H;ENSP00000395521:R58H;ENSP00000361578:R153H	ENSP00000361578:R153H	R	-	2	0	SLC2A1	43168942	1.000000	0.71417	0.786000	0.31890	0.993000	0.82548	7.480000	0.81109	2.572000	0.86782	0.542000	0.68232	CGT		0.647	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		T	43396355	C	T	43396355	3	4	8	1	0	0	0	0	1	0	0	0	14538	536	19	1	1048	1	SLC2A1	1	43396355	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	21179866	43396355	205854266	4	504											
CDKN2C	1031	broad.mit.edu	37	chr1	51439609	51439610	+	Frame_Shift_Ins	INS	-	-	A																															ttgccaggagactgctacttINSagaggtgctaatcccgattt																										TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:51439609_51439610insA	ENST00000262662.1	+	4	2208_2209	c.174_175insA	c.(175-177)agafs	p.R59fs	CDKN2C_ENST00000396148.1_Frame_Shift_Ins_p.R59fs|CDKN2C_ENST00000371761.3_Frame_Shift_Ins_p.R59fs			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	59					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GACTGCTACTTAGAGGTGCTAA	0.441			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(172-177)cttagafs		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439609_51439610insA	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.175dupA	1.37:g.51439610_51439610dupA	ENSP00000262662:p.Arg59fs					CDKN2C_uc001csg.3_Frame_Shift_Ins_p.L58fs	p.L58fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	2	2149_2150	+			58					Q8TB83	Frame_Shift_Ins	INS	ENST00000262662.1	37	c.174_175insA	CCDS555.1																																																																																				0.441	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		A	51439610	-	A	51439609	7	5	8	1	0	1	1	0	0	0	0	0	3165	1741	61	0	180	0	CDKN2C	1	51439609	Frame_Shift_Ins	INS	-	TCGA-02-2486-01A-01D-1494-08	8043254	51439609	197811012	5	505											
GPR52	9293	broad.mit.edu	37	chr1	174417940	174417940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacattttcaaaatttgcCgtcagcacaccaaagagata	15	10	5	11	1	2	1	2	0	0	1	3	2	3	1	3	0	2	1	3	0	4	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:174417940C>T	ENST00000367685.2	+	1	729	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	231					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAAAATTTGCCGTCAGCACAC	0.463																																					Ovarian(92;924 1390 1930 16467 40583)	uc010pmu.1																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20								Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							196	181	186					1																	174417940		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417940C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.691C>T	1.37:g.174417940C>T	ENSP00000356658:p.Arg231Cys					RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Missense_Mutation_p.R231C				Q9Y2T5	GPR52_HUMAN			0		-								O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.395G>A	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410478	0.62399	.	.	ENSG00000203737	ENST00000367685	T	0.42900	0.96	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.089581	0.47093	D	0.000250	T	0.54983	0.1892	L	0.48174	1.505	0.49130	D	0.999757	D	0.89917	1.0	P	0.60173	0.87	T	0.53690	-0.8403	10	0.87932	D	0	-9.9631	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	231	Q9Y2T5	GPR52_HUMAN	C	231	ENSP00000356658:R231C	ENSP00000356658:R231C	R	+	1	0	GPR52	172684563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.562000	0.67346	2.937000	0.99478	0.650000	0.86243	CGT		0.463	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		T	174417940	C	T	174417940	3	4	8	1	0	0	0	0	1	0	0	0	6698	652	23	2	693	2	GPR52	1	174417940	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	122978331	174417940	74832681	6	506											
KIF21B	23046	broad.mit.edu	37	chr1	200974537	200974537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgctggctgtggtgcGggacagggccccctgcttca	3	9	17	12	1	1	0	1	0	0	0	1	1	1	1	2	5	3	3	2	5	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:200974537G>A	ENST00000422435.2	-	5	947	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	KIF21B_ENST00000461742.2_Missense_Mutation_p.R211C|KIF21B_ENST00000332129.2_Missense_Mutation_p.R211C|KIF21B_ENST00000360529.5_Missense_Mutation_p.R211C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	211	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGTGGTGCGGGACAGGGCC	0.627																																						uc001gvs.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(631-633)Cgc>Tgc		Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.							104	94	97					1																	200974537		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200974537G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.631C>T	1.37:g.200974537G>A	ENSP00000411831:p.Arg211Cys					KIF21B_uc009wzl.2_Missense_Mutation_p.R211C|KIF21B_uc001gvr.2_Missense_Mutation_p.R211C|KIF21B_uc010ppn.2_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	p.R211C	NM_001252100	NP_001239029	O75037	KI21B_HUMAN			4	948	-			211			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.631C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481329	0.84747	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.25	5.25	0.73442	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	D	0.96326	0.9240	10	0.87932	D	0	.	13.775	0.63048	0.0:0.0:0.8465:0.1535	.	211;211;211;211	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	211	ENSP00000328494:R211C;ENSP00000353724:R211C;ENSP00000433808:R211C;ENSP00000411831:R211C	ENSP00000328494:R211C	R	-	1	0	KIF21B	199241160	0.997000	0.39634	0.941000	0.38009	0.953000	0.61014	5.263000	0.65507	2.446000	0.82766	0.655000	0.94253	CGC		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200974537	G	A	200974537	3	1	8	1	0	0	0	0	1	0	0	0	8289	1116	39	2	4363	2	KIF21B	1	200974537	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	26556597	200974537	48276084	7	507											
OR2T4	127074	broad.mit.edu	37	chr1	248525343	248525343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaccatggcctatgaccGctacgtggccatctgccatc	8	8	9	16	2	1	1	0	1	1	0	2	1	1	1	6	2	3	1	6	2	2	2	rs141022739		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:248525343G>A	ENST00000366475.1	+	1	461	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTATGACCGCTACGTGGCC	0.522																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(460-462)cGc>cAc		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	212	195	201		461	3.5	0.2	1	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T4	NM_001004696.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	154/349	248525343	1,13005	2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525343G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.461G>A	1.37:g.248525343G>A	ENSP00000355431:p.Arg154His						p.R154H	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	461	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		154					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.461G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964595	0.53507	0.0	1.16E-4	ENSG00000196944	ENST00000366475	T	0.77489	-1.1	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000717	T	0.77896	0.4199	M	0.83483	2.645	0.39073	D	0.960766	B	0.32188	0.359	B	0.27715	0.082	T	0.82208	-0.0571	10	0.62326	D	0.03	.	14.6139	0.68534	0.0:0.0:1.0:0.0	.	154	Q8NH00	OR2T4_HUMAN	H	154	ENSP00000355431:R154H	ENSP00000355431:R154H	R	+	2	0	OR2T4	246591966	1.000000	0.71417	0.175000	0.22980	0.827000	0.46813	7.985000	0.88162	1.469000	0.48083	0.485000	0.47835	CGC		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525343	G	A	248525343	3	1	8	1	0	0	0	0	1	0	0	0	11027	1087	38	1	463	1	OR2T4	1	248525343	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	47550806	248525343	725278	8	508											
CAD	790	broad.mit.edu	37	chr2	27446562	27446562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggctcctctcttcaccaAcgccaatgatggttccaatg	8	11	8	14	1	2	1	1	1	1	0	5	1	4	1	4	2	1	2	4	2	3	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:27446562A>G	ENST00000403525.1	+	7	1085	c.941A>G	c.(940-942)aAc>aGc	p.N314S	CAD_ENST00000264705.4_Missense_Mutation_p.N314S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCACCAACGCCAATGAT	0.537																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(940-942)aAc>aGc		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						272	258	263					2																	27446562		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446562A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.941A>G	2.37:g.27446562A>G	ENSP00000384510:p.Asn314Ser					CAD_uc010eyw.3_Missense_Mutation_p.N314S	p.N314S	NM_004341	NP_004332	P27708	PYR1_HUMAN			6	1103	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		314			GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.941A>G		.	.	.	.	.	.	.	.	.	.	A	24.2	4.499626	0.85176	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.89123	-2.47;-2.47	5.45	5.45	0.79879	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	M	0.81179	2.53	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.994	D	0.94810	0.7978	10	0.87932	D	0	-4.6325	13.4523	0.61178	1.0:0.0:0.0:0.0	.	314;314	F8VPD4;P27708	.;PYR1_HUMAN	S	314	ENSP00000264705:N314S;ENSP00000384510:N314S	ENSP00000264705:N314S	N	+	2	0	CAD	27300066	1.000000	0.71417	0.972000	0.41901	0.978000	0.69477	6.929000	0.75852	2.069000	0.61940	0.402000	0.26972	AAC		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			G	27446562	A	G	27446562	3	3	8	1	0	0	0	0	1	0	0	0	2565	43	2	4	967	4	CAD	2	27446562	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08		27446562	215752811	9	509											
RHOQ	23433	broad.mit.edu	37	chr2	46803312	46803312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatccagcctcattTcaaaatgtgaaagaggagtg	14	10	11	6	0	2	2	2	1	0	1	3	3	3	3	2	2	1	1	2	2	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:46803312T>A	ENST00000238738.4	+	3	607	c.288T>A	c.(286-288)ttT>ttA	p.F96L	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	96					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGCCTCATTTCAAAATGTGA	0.418																																						uc002rva.3																			0				skin(2)	2						c.(286-288)ttT>ttA		Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.							88	81	83					2																	46803312		2203	4297	6500	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803312T>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.288T>A	2.37:g.46803312T>A	ENSP00000238738:p.Phe96Leu					BC048424_uc002rvb.3_Intron	p.F96L	NM_012249	NP_036381	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	607	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	96					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.288T>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958301	0.92726	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.80304	-1.36;-1.36	5.43	4.28	0.50868	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	L	0.41124	1.26	0.80722	D	1	B	0.29835	0.258	B	0.35727	0.209	T	0.74103	-0.3773	10	0.66056	D	0.02	.	11.0807	0.48057	0.0:0.0718:0.0:0.9282	.	96	P17081	RHOQ_HUMAN	L	96;17	ENSP00000238738:F96L;ENSP00000428006:F17L	ENSP00000238738:F96L	F	+	3	2	RHOQ	46656816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.222000	0.51223	1.089000	0.41292	0.533000	0.62120	TTT		0.418	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		A	46803312	T	A	46803312	3	1	8	1	0	0	0	0	1	0	0	0	13342	1780	62	5	298	5	RHOQ	2	46803312	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	19356750	46803312	196396061	10	510											
LRP2	4036	broad.mit.edu	37	chr2	170060768	170060768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccgtcagagtgctgcGttcaatcctctgcctaaaat	9	10	8	14	3	3	1	2	0	1	1	4	1	4	1	3	0	3	2	3	0	3	2	rs367997832		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:170060768G>A	ENST00000263816.3	-	42	8014	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2577					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGAGTGCTGCGTTCAATCCTC	0.433																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7729-7731)Cgc>Tgc		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	CYS/ARG	0,4406		0,0,2203	123	132	129		7729	4.9	0.9	2		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2577/4656	170060768	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170060768G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7729C>T	2.37:g.170060768G>A	ENSP00000263816:p.Arg2577Cys						p.R2577C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7942	-			2577					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7729C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974532	0.74246	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96200	-3.94	5.78	4.9	0.64082	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97885	1.0294	10	0.62326	D	0.03	.	10.9741	0.47456	0.068:0.0:0.8022:0.1298	.	2577	P98164	LRP2_HUMAN	C	2577	ENSP00000263816:R2577C	ENSP00000263816:R2577C	R	-	1	0	LRP2	169769014	1.000000	0.71417	0.922000	0.36590	0.869000	0.49853	4.021000	0.57196	1.430000	0.47334	0.655000	0.94253	CGC		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170060768	G	A	170060768	3	1	8	1	0	0	0	0	1	0	0	0	8956	1145	40	1	6390	1	LRP2	2	170060768	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	123257456	170060768	73138605	11	511											
SCN10A	6336	broad.mit.edu	37	chr3	38739171	38739171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgtcttcttgcttccatCggagagtggttgctattggt	7	16	11	7	1	2	1	0	0	2	1	4	2	3	1	1	3	2	3	1	3	2	6	rs148537653		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:38739171C>T	ENST00000449082.2	-	27	5539	c.5540G>A	c.(5539-5541)cGa>cAa	p.R1847Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1847					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGCTTCCATCGGAGAGTGGT	0.473																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5539-5541)cGa>cAa		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						156	136	143					3																	38739171		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739171C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5540G>A	3.37:g.38739171C>T	ENSP00000390600:p.Arg1847Gln						p.R1847Q	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	5540	-			1847					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5540G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813906	0.70912	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	5.28	5.28	0.74379	.	0.000000	0.53938	U	0.000055	D	0.91740	0.7388	M	0.71920	2.185	0.29790	N	0.83332	P	0.51057	0.941	B	0.30029	0.11	D	0.90501	0.4474	10	0.51188	T	0.08	.	9.6783	0.40054	0.0:0.8479:0.0:0.1521	.	1847	Q9Y5Y9	SCNAA_HUMAN	Q	1847	ENSP00000390600:R1847Q	ENSP00000390600:R1847Q	R	-	2	0	SCN10A	38714175	0.977000	0.34250	1.000000	0.80357	0.973000	0.67179	2.537000	0.45702	2.737000	0.93849	0.655000	0.94253	CGA		0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38739171	C	T	38739171	3	4	8	1	0	0	0	0	1	0	0	0	13912	884	31	2	334	2	SCN10A	3	38739171	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		38739171	159283259	12	512											
CCBP2	1238	broad.mit.edu	37	chr3	42906816	42906816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgtttctgcatacGctgttggacctgcaagtatt	7	15	8	11	1	2	0	1	0	1	0	2	1	2	1	2	1	3	6	2	1	3	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:42906816G>A	ENST00000422265.1	+	3	997	c.822G>A	c.(820-822)acG>acA	p.T274T	ACKR2_ENST00000442925.1_Silent_p.T274T|ACKR2_ENST00000273145.2_Silent_p.T274T|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	274					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTCTGCATACGCTGTTGGACC	0.537																																						uc003cme.3																			0		p.T274M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26						c.(820-822)acG>acA		Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.							230	189	203					3																	42906816		2203	4300	6503	SO:0001819	synonymous_variant	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906816G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.822G>A	3.37:g.42906816G>A						CCBP2_uc003cmf.3_Silent_p.T274T|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.T274T	p.T274T	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	2	1000	+			274					B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.822G>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		A	42906816	G	A	42906816	2	1	8	1	0	0	0	0	0	0	0	1	2734	1074	38	1		1	CCBP2	3	42906816	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	4167645	42906816	155115614	13	513											
PLXNB1	5364	broad.mit.edu	37	chr3	48463528	48463528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacctgccaaggagcacGcaccacccacagtatgggtc	10	6	10	15	1	1	1	0	1	1	0	2	2	1	2	4	2	2	3	4	2	2	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:48463528G>A	ENST00000358536.4	-	6	1775	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.C502C|PLXNB1_ENST00000456774.1_Silent_p.C502C|PLXNB1_ENST00000296440.6_Silent_p.C502C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	502					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGAGCACGCACCACCCAC	0.557																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1504-1506)tgC>tgT		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							83	75	77					3																	48463528		2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463528G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1506C>T	3.37:g.48463528G>A						PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_Non-coding_Transcript	p.C502C	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	5	1776	-			502					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.1506C>T	CCDS2765.1																																																																																				0.557	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48463528	G	A	48463528	2	1	8	1	0	0	0	0	0	0	0	1	12123	1079	38	1		1	PLXNB1	3	48463528	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	5556712	48463528	149558902	14	514											
SOX14	8403	broad.mit.edu	37	chr3	137484152	137484152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggctaccagaacggcGccttcggcagcctcagctgc	6	6	12	17	3	1	1	1	0	0	1	2	1	1	1	4	3	5	3	4	3	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:137484152G>A	ENST00000306087.1	+	1	574	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	176					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CCAGAACGGCGCCTTCGGCAG	0.667																																						uc003erm.2																			0				large_intestine(2)|lung(12)	14						c.(526-528)Gcc>Acc		Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.							14	12	13					3																	137484152		2181	4275	6456	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484152G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.526G>A	3.37:g.137484152G>A	ENSP00000305343:p.Ala176Thr						p.A176T	NM_004189	NP_004180	O95416	SOX14_HUMAN			0	1019	+			176					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.526G>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543283	0.86022	.	.	ENSG00000168875	ENST00000306087	D	0.96745	-4.11	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	M	0.62723	1.935	0.80722	D	1	P	0.37500	0.597	B	0.23716	0.048	D	0.93792	0.7093	10	0.39692	T	0.17	.	17.5355	0.87829	0.0:0.0:1.0:0.0	.	176	O95416	SOX14_HUMAN	T	176	ENSP00000305343:A176T	ENSP00000305343:A176T	A	+	1	0	SOX14	138966842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.558000	0.98132	2.379000	0.81126	0.407000	0.27541	GCC		0.667	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		A	137484152	G	A	137484152	3	1	8	1	0	0	0	0	1	0	0	0	14945	1087	38	1	528	1	SOX14	3	137484152	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	89020624	137484152	60538278	15	515											
ATR	545	broad.mit.edu	37	chr3	142183989	142183989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaatcctttctcaggtCatcttttggcttacacatca	9	16	4	12	0	5	0	3	0	3	0	7	0	6	0	1	2	2	1	1	2	3	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:142183989C>A	ENST00000350721.4	-	41	7112	c.6991G>T	c.(6991-6993)Gac>Tac	p.D2331Y	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.D2267Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2331	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTCAGGTCATCTTTTGGC	0.299								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6991-6993)Gac>Tac	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							84	77	80					3																	142183989		2202	4298	6500	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142183989C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6991G>T	3.37:g.142183989C>A	ENSP00000343741:p.Asp2331Tyr					ATR_uc003euy.1_Missense_Mutation_p.D217Y	p.D2331Y	NM_001184	NP_001175	Q13535	ATR_HUMAN			40	7113	-			2331			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6991G>T	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652940|4.652940	0.88056|0.88056	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.91180|.	-2.8;-2.8|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91185|.	0.7223|.	H|H	0.98918|0.98918	4.37|4.37	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	D|.	0.94847|.	0.8010|.	10|.	0.87932|.	D|.	0|.	-3.716|-3.716	18.7468|18.7468	0.91795|0.91795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2331|.	Q13535|.	ATR_HUMAN|.	Y|L	2331;2267|177	ENSP00000343741:D2331Y;ENSP00000372581:D2267Y|.	ENSP00000343741:D2331Y|.	D|X	-|-	1|2	0|2	ATR|ATR	143666679|143666679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.804000|7.804000	0.85993|0.85993	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GAC|TGA		0.299	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142183989	C	A	142183989	3	1	8	1	0	0	0	0	1	0	0	0	1204	826	29	5	971	5	ATR	3	142183989	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	4699837	142183989	55838441	16	516											
NSUN7	79730	broad.mit.edu	37	chr4	40800851	40800851	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgttcagtttttccaGaagaaaatgaagctgttgtt	12	14	9	6	0	1	3	1	1	0	2	2	3	2	3	1	0	1	6	1	0	4	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:40800851G>T	ENST00000381782.2	+	10	1825	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NSUN7_ENST00000316607.5_Nonsense_Mutation_p.E444*	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	444							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGTTTTTCCAGAAGAAAATGA	0.343																																						uc003gvj.4																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1330-1332)Gaa>Taa		Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.							96	100	99					4																	40800851		2202	4299	6501	SO:0001587	stop_gained	79730							g.chr4:40800851G>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1330G>T	4.37:g.40800851G>T	ENSP00000371201:p.Glu444*					NSUN7_uc003gvi.4_Nonsense_Mutation_p.E444*	p.E444*	NM_024677	NP_078953					9	1825	+								C9JI19|Q8N9K8|Q9H815	Nonsense_Mutation	SNP	ENST00000381782.2	37	c.1330G>T	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	43	10.201409	0.99358	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	.	.	.	5.12	4.26	0.50523	.	0.050720	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.8559	15.3816	0.74661	0.0:0.1403:0.8597:0.0	.	.	.	.	X	444	.	ENSP00000319127:E444X	E	+	1	0	NSUN7	40495608	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.672000	0.74477	1.264000	0.44198	0.655000	0.94253	GAA		0.343	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		T	40800851	G	T	40800851	4	4	8	1	0	0	0	0	0	1	0	0	10683	943	33	5	1364	5	NSUN7	4	40800851	Nonsense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		40800851	150353425	17	517											
NPY5R	4889	broad.mit.edu	37	chr4	164271493	164271493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaataatactgctgccactcGgaattctgatttcccagtct	10	13	7	11	1	2	1	0	1	2	0	4	3	3	2	2	1	3	1	2	1	4	4	rs375176738		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:164271493G>A	ENST00000515560.1	+	4	1590	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NPY5R_ENST00000506953.1_Missense_Mutation_p.R23Q|NPY5R_ENST00000338566.3_Missense_Mutation_p.R23Q			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	23					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R23L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCTGCCACTCGGAATTCTGAT	0.378																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.3																			1	Substitution - Missense(1)	p.R23L(2)	lung(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(67-69)cGg>cAg		Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	73	73	73		68	4.5	0.7	4		73	0,8600		0,0,4300	no	missense	NPY5R	NM_006174.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	23/446	164271493	1,13005	2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271493G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.68G>A	4.37:g.164271493G>A	ENSP00000423917:p.Arg23Gln					NPY5R_uc021xtw.1_Missense_Mutation_p.R23Q	p.R23Q	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			3	250	+	all_hematologic(180;0.166)	Prostate(90;0.109)	23					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.68G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767625	0.31320	2.27E-4	0.0	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.70749	-0.51;-0.51;-0.51	5.35	4.5	0.54988	.	0.429875	0.17046	N	0.189114	T	0.49712	0.1573	N	0.24115	0.695	0.09310	N	1	B	0.19331	0.035	B	0.04013	0.001	T	0.21552	-1.0242	10	0.13853	T	0.58	.	6.4164	0.21719	0.1344:0.0:0.6945:0.1711	.	23	Q15761	NPY5R_HUMAN	Q	23	ENSP00000339377:R23Q;ENSP00000423917:R23Q;ENSP00000423474:R23Q	ENSP00000339377:R23Q	R	+	2	0	NPY5R	164490943	0.014000	0.17966	0.653000	0.29593	0.996000	0.88848	0.401000	0.20948	2.668000	0.90789	0.655000	0.94253	CGG		0.378	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		A	164271493	G	A	164271493	3	1	8	1	0	0	0	0	1	0	0	0	10610	1116	39	2	70	2	NPY5R	4	164271493	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	123470642	164271493	26882783	18	518											
ADAM29	11086	broad.mit.edu	37	chr4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgttgaaattgtagtcGtcattgataattatctgtac	11	17	9	4	1	2	2	1	2	1	0	3	3	2	3	0	1	1	3	0	1	5	8			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I|ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.V205I(4)|p.V204V(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(613-615)Gtc>Atc		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							86	87	87					4																	175897289		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897289G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile					ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.613G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175897289	G	A	175897289	3	1	8	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	11625796	175897289	15256987	19	519											
IL31RA	133396	broad.mit.edu	37	chr5	55206410	55206410	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcctggagtccctgaaaCgaaagacctcttacattgtt	11	10	9	11	2	1	2	0	1	1	1	2	4	2	3	3	2	2	1	3	2	3	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:55206410C>T	ENST00000447346.2	+	12	1617	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	IL31RA_ENST00000354961.4_Nonsense_Mutation_p.R499*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.R376*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.R518*|IL31RA_ENST00000396834.1_Nonsense_Mutation_p.R499*	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	486					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCCCTGAAACGAAAGACCTC	0.458																																						uc003jql.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1552-1554)Cga>Tga		Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.							154	133	140					5																	55206410		2203	4300	6503	SO:0001587	stop_gained	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55206410C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1552C>T	5.37:g.55206410C>T	ENSP00000415900:p.Arg518*					IL31RA_uc003jqm.3_Nonsense_Mutation_p.R499*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.R499*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.R376*	p.R518*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN			11	1744	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	486					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Nonsense_Mutation	SNP	ENST00000447346.2	37	c.1552C>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	36	5.712139	0.96830	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	.	.	.	5.01	1.95	0.26073	.	0.418178	0.24452	N	0.038419	.	.	.	.	.	.	0.46701	D	0.999167	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.1362	7.839	0.29387	0.4624:0.3876:0.15:0.0	.	.	.	.	X	499;518;518;376;499	.	ENSP00000347047:R499X	R	+	1	2	IL31RA	55242167	0.763000	0.28462	0.821000	0.32701	0.840000	0.47671	0.946000	0.29069	0.754000	0.32968	0.557000	0.71058	CGA		0.458	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		T	55206410	C	T	55206410	4	4	8	1	0	0	0	0	0	1	0	0	7691	528	19	1	1598	1	IL31RA	5	55206410	Nonsense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		55206410	125708850	20	520											
GABRB2	2561	broad.mit.edu	37	chr5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccactgggaagaatatgcGggaccaccgatctatggcat	13	7	11	10	2	1	1	0	0	1	1	1	4	1	3	3	3	2	1	3	3	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:160721153G>A	ENST00000393959.1	-	10	1473	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	GABRB2_ENST00000274547.2_Missense_Mutation_p.R492C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R454C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R454C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R391C|GABRB2_ENST00000517547.1_Missense_Mutation_p.R294C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	492					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGAATATGCGGGACCACCGA	0.468																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1474-1476)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						137	131	133					5																	160721153		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721153G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1474C>T	5.37:g.160721153G>A	ENSP00000377531:p.Arg492Cys					GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C	p.R492C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1692	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	492					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1474C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012333	0.75046	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.999;1.0;0.999	D	0.95197	0.8313	10	0.87932	D	0	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	294;391;492;454	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	492;492;454;454;391;294	ENSP00000377531:R492C;ENSP00000274547:R492C;ENSP00000274546:R454C;ENSP00000429320:R454C;ENSP00000430532:R391C;ENSP00000429750:R294C	ENSP00000274547:R492C	R	-	1	0	GABRB2	160653731	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.487000	0.45268	2.719000	0.93026	0.655000	0.94253	CGC		0.468	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			A	160721153	G	A	160721153	3	1	8	1	0	0	0	0	1	0	0	0	6167	1116	39	2	68	2	GABRB2	5	160721153	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	105514743	160721153	20194107	21	521											
GABRA6	2559	broad.mit.edu	37	chr5	161113291	161113291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttctactcagaaaacGtcagtcggatcctggacaac	13	8	8	12	2	3	1	2	0	1	1	5	3	4	3	1	2	4	1	1	2	5	2	rs200373173	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:161113291G>T	ENST00000274545.5	+	2	527	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	GABRA6_ENST00000523217.1_Missense_Mutation_p.V32F|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(94-96)Gtc>Ttc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						109	110	110					5																	161113291		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113291G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.94G>T	5.37:g.161113291G>T	ENSP00000274545:p.Val32Phe	TCGA Ovarian(5;0.080)					p.V32F	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	432	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	32					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.94G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671490	0.14776	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.78003	-1.14;-1.14	5.63	1.24	0.21308	Neurotransmitter-gated ion-channel ligand-binding (2);	0.149182	0.64402	D	0.000017	T	0.49660	0.1570	N	0.04636	-0.2	0.31570	N	0.656384	B	0.02656	0.0	B	0.09377	0.004	T	0.42378	-0.9455	10	0.10636	T	0.68	.	8.5345	0.33355	0.7172:0.0:0.2828:0.0	.	32	Q16445	GBRA6_HUMAN	F	32	ENSP00000274545:V32F;ENSP00000430527:V32F	ENSP00000274545:V32F	V	+	1	0	GABRA6	161045869	0.406000	0.25344	0.390000	0.26220	0.354000	0.29330	0.911000	0.28584	0.008000	0.14787	-0.290000	0.09829	GTC		0.488	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161113291	G	T	161113291	3	4	8	1	0	0	0	0	1	0	0	0	6165	1145	40	5	100	5	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	392138	161113291	19801969	22	522											
GABRP	2568	broad.mit.edu	37	chr5	170222299	170222299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcactctggatgccCgcctcgtggagttcctctgg	5	11	12	13	2	3	1	1	0	2	1	5	3	4	3	3	3	2	2	3	3	0	2	rs145233692		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:170222299C>T	ENST00000518525.1	+	6	792	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	GABRP_ENST00000519385.1_Missense_Mutation_p.R110C|GABRP_ENST00000265294.4_Missense_Mutation_p.R110C|GABRP_ENST00000519598.1_Missense_Mutation_p.R110C			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	110					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R110S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTGGATGCCCGCCTCGTGGA	0.562																																						uc003mau.3																			1	Substitution - Missense(1)	p.R110S(2)|p.R110H(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(328-330)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.		C	CYS/ARG	0,4406		0,0,2203	121	124	123		328	5.6	0.9	5	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRP	NM_014211.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	110/441	170222299	1,13005	2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222299C>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.328C>T	5.37:g.170222299C>T	ENSP00000430100:p.Arg110Cys					GABRP_uc011dev.2_Missense_Mutation_p.R110C	p.R110C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	526	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	110					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.328C>T	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304662	0.81136	0.0	1.16E-4	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.967	D	0.90223	0.4273	10	0.72032	D	0.01	.	19.5561	0.95349	0.0:1.0:0.0:0.0	.	110;110	E7EWG0;O00591	.;GBRP_HUMAN	C	110	ENSP00000428804:R110C;ENSP00000430188:R110C;ENSP00000430100:R110C;ENSP00000265294:R110C;ENSP00000430727:R110C;ENSP00000430772:R110C	ENSP00000265294:R110C	R	+	1	0	GABRP	170154877	0.975000	0.34042	0.921000	0.36526	0.983000	0.72400	2.462000	0.45049	2.784000	0.95788	0.643000	0.83706	CGC		0.562	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		T	170222299	C	T	170222299	3	4	8	1	0	0	0	0	1	0	0	0	6174	652	23	2	342	2	GABRP	5	170222299	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	9109008	170222299	10692961	23	523											
HRH2	3274	broad.mit.edu	37	chr5	175110333	175110333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcctcatcctcatcaccGttgctggcaatgtggtcgtc	5	12	10	14	3	3	0	3	0	0	0	7	0	5	0	3	3	1	3	3	3	1	1	rs372317500		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:175110333G>A	ENST00000231683.2	+	1	1870	c.97G>A	c.(97-99)Gtt>Att	p.V33I	HRH2_ENST00000377291.2_Missense_Mutation_p.V33I	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	33					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CCTCATCACCGTTGCTGGCAA	0.572																																						uc003mdc.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(97-99)Gtt>Att		Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	252	219	230		97,97	-9.4	0	5		230	0,8600		0,0,4300	no	missense,missense	HRH2	NM_001131055.1,NM_022304.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	33/398,33/360	175110333	1,13005	2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110333G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.97G>A	5.37:g.175110333G>A	ENSP00000231683:p.Val33Ile					HRH2_uc003mdd.2_Missense_Mutation_p.V33I	p.V33I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	741	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	33					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.97G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	0.114	-1.134614	0.01742	2.27E-4	0.0	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.37235	1.21;1.21	5.34	-9.37	0.00626	.	0.785963	0.11924	N	0.516375	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.06405	0.002;0.001	T	0.33007	-0.9885	10	0.10377	T	0.69	.	16.662	0.85243	0.2761:0.0765:0.6473:0.0	.	33;33	P25021;Q7Z5R9	HRH2_HUMAN;.	I	33	ENSP00000366506:V33I;ENSP00000231683:V33I	ENSP00000231683:V33I	V	+	1	0	HRH2	175042939	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.617000	0.05584	-2.399000	0.00580	-1.587000	0.00848	GTT		0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			A	175110333	G	A	175110333	3	1	8	1	0	0	0	0	1	0	0	0	7356	1145	40	1	99	1	HRH2	5	175110333	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	4888034	175110333	5804927	24	524											
C6orf15	29113	broad.mit.edu	37	chr6	31079167	31079167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatcgtgctctagccccaCtgcaacctagggcttggagg	7	10	11	13	1	2	0	0	0	2	0	3	1	2	1	3	3	4	3	3	3	4	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:31079167C>A	ENST00000259870.3	-	2	972	c.969G>T	c.(967-969)caG>caT	p.Q323H		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	323					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCTAGCCCCACTGCAACCTAG	0.562																																						uc003nsk.1																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(967-969)caG>caT		Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.							21	19	20					6																	31079167		1732	3379	5111	SO:0001583	missense	29113							g.chr6:31079167C>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.969G>T	6.37:g.31079167C>A	ENSP00000259870:p.Gln323His						p.Q323H	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			1	969	-			323					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.969G>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659349	0.47467	.	.	ENSG00000204542	ENST00000259870	T	0.08102	3.13	4.38	1.13	0.20643	.	1.496860	0.04375	N	0.359826	T	0.09335	0.0230	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.64237	0.923	T	0.13282	-1.0515	10	0.87932	D	0	-1.4938	3.6668	0.08258	0.2593:0.5371:0.0:0.2037	.	323	Q6UXA7	CF015_HUMAN	H	323	ENSP00000259870:Q323H	ENSP00000259870:Q323H	Q	-	3	2	C6orf15	31187146	0.012000	0.17670	0.006000	0.13384	0.147000	0.21601	0.610000	0.24253	0.070000	0.16634	-0.148000	0.13756	CAG		0.562	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		A	31079167	C	A	31079167	3	1	8	1	0	0	0	0	1	0	0	0	2336	564	20	5	12	5	C6orf15	6	31079167	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		31079167	140035900	25	525											
KCNQ5	56479	broad.mit.edu	37	chr6	73787150	73787150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttcctacagatcctccGcatggtgcgcatggaccgaa	8	9	10	14	4	0	1	0	0	0	1	3	3	3	2	5	2	2	3	5	2	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:73787150G>A	ENST00000370398.1	+	4	831	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNQ5_ENST00000370392.1_Missense_Mutation_p.R241H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R241H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R241H	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	241					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R241H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAGATCCTCCGCATGGTGCGC	0.443																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			1	Substitution - Missense(1)	p.R241H(2)	ovary(1)	breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(721-723)cGc>cAc		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							85	80	82					6																	73787150		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787150G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.722G>A	6.37:g.73787150G>A	ENSP00000359425:p.Arg241His					KCNQ5_uc003pgj.4_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.2_Missense_Mutation_p.R241H|KCNQ5_uc010kat.3_Missense_Mutation_p.R241H|KCNQ5_uc003pgk.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.2_5'UTR	p.R241H	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	3	1069	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	241					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.722G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487480	0.96323	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.992;0.996;0.987;0.995;0.997;0.99	D	0.98492	1.0610	10	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	241;241;241;241;241;241	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	H	241	ENSP00000345055:R241H;ENSP00000347326:R241H;ENSP00000359425:R241H;ENSP00000359419:R241H;ENSP00000385501:R241H;ENSP00000347853:R241H;ENSP00000384453:R241H;ENSP00000409861:R241H	ENSP00000345055:R241H	R	+	2	0	KCNQ5	73843871	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	CGC		0.443	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		A	73787150	G	A	73787150	3	1	8	1	0	0	0	0	1	0	0	0	8086	1087	38	1	736	1	KCNQ5	6	73787150	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	42707983	73787150	97327917	26	526											
PRDM13	59336	broad.mit.edu	37	chr6	100062050	100062050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagccccgccgagctgggGtcgctggccagcatcgaccg	6	5	14	16	5	0	0	0	0	0	0	2	2	0	0	5	3	3	3	5	3	1	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:100062050G>A	ENST00000369215.4	+	4	1844	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	513					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCGAGCTGGGGTCGCTGGCCA	0.662																																						uc003pqg.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1537-1539)ggG>ggA		Homo sapiens PR domain containing 13 (PRDM13), mRNA.							13	16	15					6																	100062050		1981	4137	6118	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062050G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1539G>A	6.37:g.100062050G>A							p.G513G	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	1800	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	513					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1539G>A	CCDS43487.1																																																																																				0.662	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			A	100062050	G	A	100062050	2	1	8	1	0	0	0	0	0	0	0	1	12454	1248	44	3		3	PRDM13	6	100062050	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	26274900	100062050	71053017	27	527											
BEND3	57673	broad.mit.edu	37	chr6	107391831	107391831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtagatgttggggtcGttgtcagtgcctgccccggt	6	11	16	8	2	1	1	1	0	0	1	2	2	1	2	3	4	2	3	3	4	2	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:107391831G>A	ENST00000369042.1	-	4	754	c.564C>T	c.(562-564)aaC>aaT	p.N188N	BEND3_ENST00000429433.2_Silent_p.N188N			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	188										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGTTGGGGTCGTTGTCAGTGC	0.577																																						uc003prs.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(562-564)aaC>aaT		Homo sapiens BEN domain containing 3 (BEND3), mRNA.							142	110	121					6																	107391831		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391831G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.564C>T	6.37:g.107391831G>A							p.N188N	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			4	1214	-			188					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.564C>T	CCDS34507.1																																																																																				0.577	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		A	107391831	G	A	107391831	2	1	8	1	0	0	0	0	0	0	0	1	1399	1136	40	1		1	BEND3	6	107391831	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	7329781	107391831	63723236	28	528											
SGK1	6446	broad.mit.edu	37	chr6	134492161	134492161	+	Splice_Site	DEL	G	G	-																															gacaggaaaacatcactcacGaagtcatccttggccccgag																										TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:134492161delG	ENST00000237305.7	-	10	1126	c.1038delC	c.(1036-1038)ttc>tt	p.F346fs	SGK1_ENST00000413996.3_Splice_Site_p.F360fs|SGK1_ENST00000367858.5_Splice_Site_p.F441fs|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Splice_Site_p.F302fs|SGK1_ENST00000367857.5_Splice_Site_p.F336fs|SGK1_ENST00000528577.1_Splice_Site_p.F374fs	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.F346F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATCACTCACGAAGTCATCCT	0.527																																						uc003qen.4																			1	Substitution - coding silent(1)	p.F346F(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.e10+1		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.							72	70	71					6																	134492161		2203	4300	6503	SO:0001630	splice_region_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134492161delG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1038+1C>-	6.37:g.134492161delG						SGK1_uc003qeo.4_Splice_Site_p.F441_splice|SGK1_uc011ect.2_Splice_Site_p.F336_splice|SGK1_uc011ecu.2_Splice_Site_p.F302_splice|SGK1_uc011ecv.2_Splice_Site_p.F360_splice|SGK1_uc011ecw.2_Splice_Site_p.F374_splice	p.F346_splice	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1127	-	Colorectal(23;0.221)		346			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Frame_Shift_Del	DEL	ENST00000237305.7	37	c.1038_splice	CCDS5170.1																																																																																				0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Frame_Shift_Del	-	134492161	G	-	134492161	8	5	8	1	0	1	0	1	0	0	1	0	14207	1072	37	0	269	0	SGK1	6	134492161	Splice_Site	DEL	G	TCGA-02-2486-01A-01D-1494-08	27100330	134492161	36622906	29	529											
KIAA1244	57221	broad.mit.edu	37	chr6	138612912	138612912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcacaaccacttcagCgatggtgcctcgcagccccc	8	6	10	17	2	1	0	1	0	0	0	2	2	1	1	4	2	5	2	4	2	1	1	rs373777982		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:138612912C>T	ENST00000251691.4	+	19	3256	c.3090C>T	c.(3088-3090)agC>agT	p.S1030S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCACTTCAGCGATGGTGCCT	0.647																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3088-3090)agC>agT		Homo sapiens KIAA1244 (KIAA1244), mRNA.		C		1,4401		0,1,2200	24	26	25		3090	-5.8	0.1	6		25	0,8598		0,0,4299	no	coding-synonymous	KIAA1244	NM_020340.4		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		1030/2178	138612912	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138612912C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3090C>T	6.37:g.138612912C>T							p.S1030S	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	18	3261	+	Breast(32;0.135)		1030						Silent	SNP	ENST00000251691.4	37	c.3090C>T	CCDS5189.2																																																																																				0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138612912	C	T	138612912	2	4	8	1	0	0	0	0	0	0	0	1	8217	767	27	1		1	KIAA1244	6	138612912	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	4120751	138612912	32502155	30	530											
DNAH11	8701	broad.mit.edu	37	chr7	21583201	21583201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcctcggggcgccttgCggcttcccaggaggtaagag	5	6	16	14	5	0	1	0	0	0	1	2	2	1	2	4	5	1	2	4	5	1	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:21583201C>T	ENST00000409508.3	+	1	369	c.338C>T	c.(337-339)gCg>gTg	p.A113V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A113V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	113	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCGCCTTGCGGCTTCCCAG	0.617									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(337-339)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.																																				SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21583201C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.338C>T	7.37:g.21583201C>T	ENSP00000475939:p.Ala113Val						p.A113V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			0	369	+			113			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.338C>T		.	.	.	.	.	.	.	.	.	.	C	2.560	-0.302108	0.05495	.	.	ENSG00000105877	ENST00000328843	T	0.22336	1.96	4.12	-4.24	0.03777	.	2.505970	0.01465	N	0.016050	T	0.08582	0.0213	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.15925	-1.0420	10	0.09843	T	0.71	.	0.5378	0.00640	0.3895:0.2236:0.1277:0.2592	.	113	Q96DT5	DYH11_HUMAN	V	113	ENSP00000330671:A113V	ENSP00000330671:A113V	A	+	2	0	DNAH11	21549726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.624000	0.05540	-1.171000	0.02765	-1.954000	0.00483	GCG		0.617	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21583201	C	T	21583201	3	4	8	1	0	0	0	0	1	0	0	0	4599	768	27	1	340	1	DNAH11	7	21583201	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		21583201	137555462	31	531											
STK31	56164	broad.mit.edu	37	chr7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagtcatctcttaataaaCgcttaaaaacattgcaggtt	15	13	6	7	1	2	1	1	1	1	0	3	1	2	1	0	1	3	3	0	1	6	5	rs199698256		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:23802525C>T	ENST00000355870.3	+	11	1518	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_ENST00000433467.2_Missense_Mutation_p.R467C|STK31_ENST00000428484.1_Missense_Mutation_p.R444C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.R444C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	467						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.R467C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTAATAAACGCTTAAAAAC	0.289																																						uc003sws.4																			1	Substitution - Missense(1)	p.R467C(2)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1399-1401)Cgc>Tgc		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	65	65		1330,1399,1330	5.2	1	7		65	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	180,180,180	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	444/997,467/1020,444/997	23802525	2,13002	2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23802525C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1399C>T	7.37:g.23802525C>T	ENSP00000348132:p.Arg467Cys					STK31_uc003swt.4_Missense_Mutation_p.R444C|STK31_uc011jze.2_Missense_Mutation_p.R467C|STK31_uc010kuq.3_Missense_Mutation_p.R444C	p.R467C	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			10	1466	+			467					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1399C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875565	0.72180	2.27E-4	1.16E-4	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10177	-1.0641	10	0.87932	D	0	-4.5156	17.9644	0.89096	0.0:1.0:0.0:0.0	.	467;467	B4DZ06;Q9BXU1	.;STK31_HUMAN	C	467;467;444;444	ENSP00000348132:R467C;ENSP00000411852:R467C;ENSP00000346660:R444C;ENSP00000406146:R444C	ENSP00000346660:R444C	R	+	1	0	STK31	23769050	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.530000	0.60595	2.610000	0.88304	0.585000	0.79938	CGC		0.289	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23802525	C	T	23802525	3	4	8	1	0	0	0	0	1	0	0	0	15295	536	19	1	1441	1	STK31	7	23802525	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	2219324	23802525	135336138	32	532											
TXNDC3	51314	broad.mit.edu	37	chr7	37923916	37923916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatttagatgatgttttgCgtattattaaagatgaagac	13	18	8	2	1	0	5	0	2	0	3	0	5	0	5	0	0	1	2	0	0	7	9			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:37923916C>T	ENST00000199447.4	+	13	1378	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	NME8_ENST00000440017.1_Missense_Mutation_p.R336C|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	336	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGATGTTTTGCGTATTATTAA	0.303																																						uc003tfn.3																			0											c.(1006-1008)Cgt>Tgt		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							82	79	80					7																	37923916		2203	4294	6497	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37923916C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1006C>T	7.37:g.37923916C>T	ENSP00000199447:p.Arg336Cys						p.R336C	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			12	1378	+			336			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1006C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	8.010	0.757219	0.15846	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.55760	0.5;0.5	3.95	-7.9	0.01169	.	2.988130	0.00839	N	0.001733	T	0.56217	0.1970	L	0.54323	1.7	0.09310	N	1	P	0.50819	0.939	P	0.53062	0.717	T	0.65809	-0.6078	10	0.59425	D	0.04	0.0213	8.6308	0.33917	0.2926:0.2311:0.4763:0.0	.	336	Q8N427	TXND3_HUMAN	C	336	ENSP00000199447:R336C;ENSP00000397063:R336C	ENSP00000199447:R336C	R	+	1	0	TXNDC3	37890441	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.848000	0.04326	-2.034000	0.00924	-1.081000	0.02215	CGT		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		T	37923916	C	T	37923916	3	4	8	1	0	0	0	0	1	0	0	0	16795	768	27	1	1048	1	TXNDC3	7	37923916	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	14121391	37923916	121214747	33	533											
HECW1	23072	broad.mit.edu	37	chr7	43360248	43360248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatagatgaggtcttgtccGaaaactttctggactataaa	14	13	8	6	1	2	2	0	1	2	1	3	4	3	3	1	2	1	0	1	2	7	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:43360248G>A	ENST00000395891.2	+	5	972	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	HECW1_ENST00000453890.1_Missense_Mutation_p.E123K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTCTTGTCCGAAAACTTTCT	0.428																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(367-369)Gaa>Aaa		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							104	101	102					7																	43360248		1868	4110	5978	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43360248G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.367G>A	7.37:g.43360248G>A	ENSP00000379228:p.Glu123Lys					HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	p.E123K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			4	972	+			123					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.367G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	35	5.437450	0.96168	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.37915	1.17;1.17	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.998;0.988;1.0	P;P;D	0.75484	0.771;0.507;0.986	T	0.51679	-0.8675	10	0.41790	T	0.15	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	123;155;123	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	K	123;123;122	ENSP00000379228:E123K;ENSP00000407774:E123K	ENSP00000265522:E122K	E	+	1	0	HECW1	43326773	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	9.696000	0.98695	2.820000	0.97059	0.650000	0.86243	GAA		0.428	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43360248	G	A	43360248	3	1	8	1	0	0	0	0	1	0	0	0	7042	1059	37	2	377	2	HECW1	7	43360248	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	5436332	43360248	115778415	34	534											
SRCRB4D	136853	broad.mit.edu	37	chr7	76019569	76019569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacagcccagctggCggcacaggacaccggctgcc	7	3	13	18	2	0	0	0	0	0	0	0	1	0	1	5	5	3	3	5	5	0	0			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:76019569C>T	ENST00000275560.3	-	11	1882	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCCAGCTGGCGGCACAGGAC	0.667																																						uc003ufb.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1534-1536)cGc>cAc		Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.							39	38	39					7																	76019569		2203	4298	6501	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76019569C>T																												ENST00000275560.3:c.1535G>A	7.37:g.76019569C>T	ENSP00000275560:p.Arg512His					SRCRB4D_uc003ufa.3_Missense_Mutation_p.A14T	p.R512H	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			10	1883	-			512			SRCR 4.			Missense_Mutation	SNP	ENST00000275560.3	37	c.1535G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351488	0.82132	.	.	ENSG00000146700	ENST00000275560	T	0.42900	0.96	5.81	-0.29	0.12847	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.119797	0.56097	D	0.000039	T	0.59115	0.2170	M	0.88310	2.945	0.36495	D	0.868685	D	0.61080	0.989	P	0.61592	0.891	T	0.62300	-0.6883	10	0.72032	D	0.01	.	6.1567	0.20342	0.1133:0.5675:0.0:0.3192	.	512	Q8WTU2	SRB4D_HUMAN	H	512	ENSP00000275560:R512H	ENSP00000275560:R512H	R	-	2	0	SRCRB4D	75857505	0.929000	0.31497	0.901000	0.35422	0.979000	0.70002	0.463000	0.21972	-0.353000	0.08224	-0.140000	0.14226	CGC		0.667	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			T	76019569	C	T	76019569	3	4	8	1	0	0	0	0	1	0	0	0	15136	768	27	1	196	1	SRCRB4D	7	76019569	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	32659321	76019569	83119094	35	535											
KIAA1324L	222223	broad.mit.edu	37	chr7	86521158	86521158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgggagttcacacTcttttgagttagtcgtcatt	7	14	10	10	2	3	1	2	1	1	0	4	2	3	2	1	1	2	3	1	1	1	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:86521158T>A	ENST00000450689.2	-	21	3097	c.2912A>T	c.(2911-2913)gAg>gTg	p.E971V	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E900V|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E804V|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E731V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	971						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGTTCACACTCTTTTGAGTT	0.323																																						uc011kha.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2911-2913)gAg>gTg		Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.							81	74	76					7																	86521158		2203	4299	6502	SO:0001583	missense	222223					integral to membrane		g.chr7:86521158T>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2912A>T	7.37:g.86521158T>A	ENSP00000413445:p.Glu971Val					KIAA1324L_uc003uie.3_Missense_Mutation_p.E804V|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E857V|KIAA1324L_uc003uif.2_Missense_Mutation_p.E723V	p.E971V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			20	3097	-	Esophageal squamous(14;0.0058)		971					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2912A>T	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.3|27.3	4.814752|4.814752	0.90790|0.90790	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.21031|.	2.31;2.05;2.03;2.06|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.098566|.	0.64402|.	D|.	0.000001|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.996;0.996|.	D;P;P|.	0.77004|.	0.989;0.892;0.892|.	T|T	0.73630|0.73630	-0.3922|-0.3922	10|5	0.87932|.	D|.	0|.	.|.	15.5753|15.5753	0.76373|0.76373	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	971;731;804|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	V|S	971;731;900;804|931	ENSP00000413445:E971V;ENSP00000297222:E731V;ENSP00000397377:E900V;ENSP00000402390:E804V|.	ENSP00000297222:E731V|.	E|R	-|-	2|3	0|2	KIAA1324L|KIAA1324L	86359094|86359094	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.655000|7.655000	0.83696|0.83696	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.323	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		A	86521158	T	A	86521158	3	1	8	1	0	0	0	0	1	0	0	0	8224	1551	54	5	185	5	KIAA1324L	7	86521158	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	10501589	86521158	72617505	36	536											
MCM7	4176	broad.mit.edu	37	chr7	99693629	99693629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgtggatggctgtgcGgtcggcctcagccatcttgt	4	11	14	12	3	2	0	1	0	1	0	4	2	2	1	3	4	2	1	3	4	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:99693629G>A	ENST00000303887.5	-	11	2008	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.R279C|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR106B_ENST00000385301.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	455	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGCTGTGCGGTCGGCCTCA	0.612																																						uc003usw.1																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1363-1365)Cgc>Tgc		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						90	73	79					7																	99693629		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693629G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1363C>T	7.37:g.99693629G>A	ENSP00000307288:p.Arg455Cys					MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	p.R455C	NM_005916	NP_005907	P33993	MCM7_HUMAN			10	1873	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		455			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1363C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497628	0.85069	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12672	2.66;2.66	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71794	-0.4485	10	0.87932	D	0	-25.7031	10.8522	0.46777	0.0:0.0:0.8121:0.1879	.	455	P33993	MCM7_HUMAN	C	455;392;348;279	ENSP00000307288:R455C;ENSP00000346171:R279C	ENSP00000307288:R455C	R	-	1	0	MCM7	99531565	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.279000	0.72620	2.589000	0.87451	0.655000	0.94253	CGC		0.612	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			A	99693629	G	A	99693629	3	1	8	1	0	0	0	0	1	0	0	0	9392	1116	39	2	816	2	MCM7	7	99693629	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	13172471	99693629	59445034	37	537											
CPA2	1358	broad.mit.edu	37	chr7	129909521	129909521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagcttgatttttggAaatcacccaccaccccaggg	9	11	7	14	0	2	1	2	1	0	0	2	2	2	2	5	2	1	1	5	2	1	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:129909521A>G	ENST00000222481.4	+	3	221	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	56					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGATTTTTGGAAATCACCCAC	0.493																																						uc003vpq.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(166-168)Aaa>Gaa		Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.							126	122	123					7																	129909521		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129909521A>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.166A>G	7.37:g.129909521A>G	ENSP00000222481:p.Lys56Glu					CPA2_uc011kpc.1_Missense_Mutation_p.K56E	p.K56E	NM_001869	NP_001860	P48052	CBPA2_HUMAN			2	185	+	Melanoma(18;0.0435)		56					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.166A>G	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008554	0.35415	.	.	ENSG00000158516	ENST00000222481	T	0.14766	2.48	5.47	5.47	0.80525	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.487586	0.21137	N	0.079557	T	0.22282	0.0537	M	0.64404	1.975	0.31682	N	0.642992	B;P	0.36495	0.358;0.556	B;B	0.44278	0.275;0.445	T	0.15065	-1.0450	10	0.49607	T	0.09	.	11.4633	0.50223	0.8655:0.0:0.0:0.1345	.	54;56	B4DDX9;P48052	.;CBPA2_HUMAN	E	56	ENSP00000222481:K56E	ENSP00000222481:K56E	K	+	1	0	CPA2	129696757	0.108000	0.22018	0.945000	0.38365	0.111000	0.19643	0.475000	0.22164	2.199000	0.70637	0.533000	0.62120	AAA		0.493	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		G	129909521	A	G	129909521	3	3	8	1	0	0	0	0	1	0	0	0	3790	247	9	4	176	4	CPA2	7	129909521	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08	30215892	129909521	29229142	38	538											
NOS3	4846	broad.mit.edu	37	chr7	150699008	150699008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggccgggcccagagctaCgcacagcagctggggagact	9	3	15	14	3	0	2	0	0	0	2	0	3	0	2	3	4	4	4	3	4	1	1	rs370755105		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:150699008C>T	ENST00000484524.1	+	12	1602	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	NOS3_ENST00000467517.1_Silent_p.Y534Y|NOS3_ENST00000461406.1_Silent_p.Y328Y|NOS3_ENST00000297494.3_Silent_p.Y534Y	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGAGCTACGCACAGCAGC	0.637																																						uc003wif.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1600-1602)taC>taT		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	T	,,,	0,4406		0,0,2203	40	43	42		1602,1602,1602,1602	-4.5	0.9	7		42	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	,,,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,,,	534/1204,534/597,534/615,534/630	150699008	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699008C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1602C>T	7.37:g.150699008C>T						NOS3_uc011kuy.2_Silent_p.Y328Y|NOS3_uc011kva.2_Silent_p.Y534Y|NOS3_uc011kuz.2_Silent_p.Y534Y|NOS3_uc011kvb.2_Silent_p.Y534Y	p.Y534Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1898	+	all_neural(206;0.219)		534			Flavodoxin-like.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1602C>T	CCDS55182.1																																																																																				0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		T	150699008	C	T	150699008	2	4	8	1	0	0	0	0	0	0	0	1	10544	547	19	1		1	NOS3	7	150699008	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	20789487	150699008	8439655	39	539											
GFRA2	2675	broad.mit.edu	37	chr8	21608207	21608207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgccggcggcgctcagcGcacgcctggtcttggcagga	4	8	16	13	5	2	0	1	0	1	0	2	1	2	1	2	5	2	4	2	5	0	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:21608207G>A	ENST00000524240.1	-	4	1337	c.687C>T	c.(685-687)tgC>tgT	p.C229C	GFRA2_ENST00000400782.4_Silent_p.C124C|GFRA2_ENST00000518077.1_Silent_p.C96C|GFRA2_ENST00000517328.1_Silent_p.C229C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	229					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCGCTCAGCGCACGCCTGGT	0.657																																						uc003wzu.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(685-687)tgC>tgT		Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.							41	50	47					8																	21608207		2184	4280	6464	SO:0001819	synonymous_variant	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608207G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.687C>T	8.37:g.21608207G>A						GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	p.C229C	NM_001495	NP_001486	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	3	1362	-			229					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	c.687C>T	CCDS47816.1																																																																																				0.657	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		A	21608207	G	A	21608207	2	1	8	1	0	0	0	0	0	0	0	1	6348	1079	38	1		1	GFRA2	8	21608207	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08		21608207	124755815	40	540											
FAM150A	389658	broad.mit.edu	37	chr8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggtattgtaatagagtCggtggaaatgtttgctgcat	9	14	12	6	1	0	1	0	0	0	1	1	2	0	2	1	3	2	5	1	3	4	5	rs145116532	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:53452429C>T	ENST00000358543.4	-	3	537	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	96						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363													C|||	2	0.000399361	0	0	5008	,	,		17018	0.001		0	False		,,,				2504	0.001					uc003xrd.3																			0				lung(1)	1						c.(286-288)cGa>cAa		Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.		C	GLN/ARG	0,4406		0,0,2203	102	101	101		287	5.5	0.1	8	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM150A	NM_207413.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	96/130	53452429	1,13005	2203	4300	6503	SO:0001583	missense	389658					extracellular region		g.chr8:53452429C>T		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.287G>A	8.37:g.53452429C>T	ENSP00000351345:p.Arg96Gln					FAM150A_uc011ldt.2_Missense_Mutation_p.R96Q	p.R96Q	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN			2	492	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	96					B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	c.287G>A	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210169	0.79240	0.0	1.16E-4	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.77731	0.4174	M	0.62723	1.935	0.38749	D	0.954054	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.80817	-0.1213	9	0.72032	D	0.01	.	18.0874	0.89462	0.0:1.0:0.0:0.0	.	96;96	B7ZMG9;Q6UXT8	.;F150A_HUMAN	Q	96	.	ENSP00000351345:R96Q	R	-	2	0	FAM150A	53614982	1.000000	0.71417	0.102000	0.21198	0.680000	0.39746	5.746000	0.68681	2.565000	0.86533	0.563000	0.77884	CGA		0.363	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		T	53452429	C	T	53452429	3	4	8	1	0	0	0	0	1	0	0	0	5456	884	31	2	110	2	FAM150A	8	53452429	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	31844222	53452429	92911593	41	541											
CSMD3	114788	broad.mit.edu	37	chr8	114326801	114326801	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattcaaaacacactaaccTtgtcctaaagtttgtaggat	14	12	5	10	0	1	0	1	0	0	0	2	1	2	1	3	1	2	2	3	1	6	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:114326801T>A	ENST00000297405.5	-	2	644	c.400A>T	c.(400-402)Agg>Tgg	p.R134W	CSMD3_ENST00000343508.3_Splice_Site_p.R94W|CSMD3_ENST00000455883.2_Splice_Site_p.R134W|CSMD3_ENST00000352409.3_Splice_Site_p.R134W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	134	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACTAACCTTGTCCTAAAG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e2+1		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							102	96	98					8																	114326801		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:114326801T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.401+1A>T	8.37:g.114326801T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Splice_Site_p.R94_splice|CSMD3_uc011lhx.2_Splice_Site_p.R134_splice|CSMD3_uc010mcx.1_Splice_Site_p.R134_splice|CSMD3_uc003ynx.4_Missense_Mutation_p.R134W	p.R134_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	560	-			134			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.401_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743693	0.69418	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	U	0.000002	T	0.51719	0.1691	M	0.86097	2.795	0.41691	D	0.989346	P;D;D;D;D	0.89917	0.924;0.985;0.997;1.0;0.996	P;P;D;D;P	0.85130	0.705;0.768;0.972;0.997;0.905	T	0.59506	-0.7442	10	0.72032	D	0.01	.	15.1878	0.73020	0.0:0.0:0.0:1.0	.	134;134;134;134;94	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	W	94;134;134;134	ENSP00000345799:R94W;ENSP00000297405:R134W;ENSP00000412263:R134W;ENSP00000343124:R134W	ENSP00000297405:R134W	R	-	1	2	CSMD3	114395977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.033000	0.88852	2.178000	0.69098	0.455000	0.32223	AGG		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	A	114326801	T	A	114326801	5	1	8	1	0	0	0	0	0	0	1	0	3946	1623	56	5	11003	5	CSMD3	8	114326801	Splice_Site	SNP	T	TCGA-02-2486-01A-01D-1494-08	60874372	114326801	32037221	42	542											
PTPN3	5774	broad.mit.edu	37	chr9	112185070	112185070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccactgataaggatctcCgcatggctgggttccacacc	8	9	10	14	1	1	1	0	1	1	0	4	2	3	2	4	3	0	4	4	3	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112185070C>T	ENST00000374541.2	-	13	1168	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.R224Q	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453																																						uc004bed.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1063-1065)cGg>cAg		Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.							208	193	198					9																	112185070		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185070C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1064G>A	9.37:g.112185070C>T	ENSP00000363667:p.Arg355Gln					PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	p.R355Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN			12	1176	-			355					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1064G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398701	0.62177	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.61274	0.12;0.12	5.55	3.6	0.41247	.	0.156133	0.52532	N	0.000063	T	0.57373	0.2049	L	0.52573	1.65	0.80722	D	1	D	0.63046	0.992	P	0.50109	0.631	T	0.57877	-0.7735	10	0.42905	T	0.14	.	11.218	0.48838	0.0:0.8457:0.0:0.1543	.	355	P26045	PTN3_HUMAN	Q	355;224;355	ENSP00000416654:R224Q;ENSP00000363667:R355Q	ENSP00000363667:R355Q	R	-	2	0	PTPN3	111224891	0.921000	0.31238	1.000000	0.80357	0.996000	0.88848	1.011000	0.29911	1.249000	0.43950	0.650000	0.86243	CGG		0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			T	112185070	C	T	112185070	3	4	8	1	0	0	0	0	1	0	0	0	12789	652	23	2	1733	2	PTPN3	9	112185070	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		112185070	29028361	43	543											
AKAP2	11217	broad.mit.edu	37	chr9	112900697	112900697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgattgaggaagagatccGagcagctcaggaaagggaag	15	5	15	6	1	1	3	1	2	0	1	2	8	2	6	1	3	2	2	1	3	3	1	rs139808664		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112900697G>A	ENST00000259318.7	+	2	2387	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	AKAP2_ENST00000374525.1_Missense_Mutation_p.R816Q|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000434623.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R958Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R958Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R958Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R958Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	727										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAAGAGATCCGAGCAGCTCAG	0.552																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3568-3570)cGa>cAa		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	84	78	80		2447,2180,2447,2873,2873	6.2	1	9	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	816/949,727/860,816/962,958/1104,958/1091	112900697	1,13005	2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900697G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2180G>A	9.37:g.112900697G>A	ENSP00000259318:p.Arg727Gln					PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R727Q	p.R1190Q	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			8	3761	+			727					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3569G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030617	0.93575	0.0	1.16E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.56941	1.41;1.41;1.41;1.41;1.41;1.41;0.43;1.41	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	M	0.65498	2.005	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.981;0.997;0.998;0.997;0.994;0.999;0.999;0.998	T	0.72707	-0.4212	10	0.72032	D	0.01	-13.1489	19.8676	0.96824	0.0:0.0:1.0:0.0	.	727;816;810;816;817;958;958;776	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	958;958;958;958;816;816;776;727	ENSP00000363654:R958Q;ENSP00000305861:R958Q;ENSP00000451476:R958Q;ENSP00000421522:R958Q;ENSP00000404782:R816Q;ENSP00000363649:R816Q;ENSP00000419268:R776Q;ENSP00000259318:R727Q	ENSP00000259318:R727Q	R	+	2	0	PALM2-AKAP2;AKAP2	111940518	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.206000	0.95056	2.941000	0.99782	0.655000	0.94253	CGA		0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		A	112900697	G	A	112900697	3	1	8	1	0	0	0	0	1	0	0	0	451	1058	37	2	2453	2	AKAP2	9	112900697	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	715627	112900697	28312734	44	544											
KIAA0649	9858	broad.mit.edu	37	chr9	138377609	138377609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaagtgccttgcccgagaCccacaggaaaacacccagca	16	3	8	14	1	0	1	0	0	0	1	0	3	0	2	4	1	4	1	4	1	4	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:138377609C>A	ENST00000356818.2	+	4	1802	c.1253C>A	c.(1252-1254)aCc>aAc	p.T418N	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.T418N|PPP1R26_ENST00000605286.1_Missense_Mutation_p.T418N|PPP1R26_ENST00000604351.1_Missense_Mutation_p.T418N|PPP1R26_ENST00000401470.3_Missense_Mutation_p.T418N	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	418					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TTGCCCGAGACCCACAGGAAA	0.622																																						uc022bpi.1																			0											c.(1252-1254)aCc>aAc		Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.							32	35	34					9																	138377609		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377609C>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1253C>A	9.37:g.138377609C>A	ENSP00000349274:p.Thr418Asn					PPP1R26_uc004cfr.1_Missense_Mutation_p.T418N	p.T418N	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN			0	1253	+			418					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1253C>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009100	0.07912	.	.	ENSG00000196422	ENST00000356818	T	0.09630	2.96	5.06	2.05	0.26809	.	0.689881	0.14243	N	0.331936	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.28783	0.222	B	0.27500	0.08	T	0.24083	-1.0170	10	0.37606	T	0.19	-5.6746	6.5931	0.22658	0.1145:0.5629:0.2453:0.0774	.	418	Q5T8A7	PPR26_HUMAN	N	418	ENSP00000349274:T418N	ENSP00000349274:T418N	T	+	2	0	KIAA0649	137517430	0.000000	0.05858	0.010000	0.14722	0.024000	0.10985	0.162000	0.16501	1.124000	0.41980	0.655000	0.94253	ACC		0.622	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		A	138377609	C	A	138377609	3	1	8	1	0	0	0	0	1	0	0	0	8187	507	18	5	1255	5	KIAA0649	9	138377609	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	25476912	138377609	2835822	45	545											
CRTAC1	55118	broad.mit.edu	37	chr10	99683092	99683092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgggccacgttgacctcatCgctcaggatgtcttcccacc	7	9	9	16	3	3	1	2	1	1	0	5	2	4	2	4	2	0	2	4	2	0	2	rs374900860		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr10:99683092C>T	ENST00000370597.3	-	4	842	c.487G>A	c.(487-489)Gat>Aat	p.D163N	CRTAC1_ENST00000298819.4_Missense_Mutation_p.D163N|CRTAC1_ENST00000370591.2_Missense_Mutation_p.D163N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	163						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTGACCTCATCGCTCAGGATG	0.612																																						uc001kou.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(487-489)Gat>Aat		Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	106	79	88		487,487	5.2	0.6	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	163/646,163/662	99683092	1,13005	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99683092C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.487G>A	10.37:g.99683092C>T	ENSP00000359629:p.Asp163Asn					CRTAC1_uc001kov.3_Missense_Mutation_p.D163N|CRTAC1_uc001kot.2_5'UTR	p.D163N	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	843	-		Colorectal(252;0.24)	163					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.487G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167761	0.78339	0.0	1.16E-4	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.78223	2.4	0.80722	D	1	P;D	0.89917	0.868;1.0	B;D	0.63488	0.294;0.915	T	0.43861	-0.9365	10	0.20519	T	0.43	-21.7945	18.66	0.91469	0.0:1.0:0.0:0.0	.	163;163	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	N	59;163;163;155;163	ENSP00000408445:D59N;ENSP00000359629:D163N;ENSP00000298819:D163N;ENSP00000310810:D155N;ENSP00000359623:D163N	ENSP00000298819:D163N	D	-	1	0	CRTAC1	99673082	1.000000	0.71417	0.570000	0.28473	0.326000	0.28443	7.552000	0.82192	2.419000	0.82065	0.563000	0.77884	GAT		0.612	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		T	99683092	C	T	99683092	3	4	8	1	0	0	0	0	1	0	0	0	3896	884	31	2	1546	2	CRTAC1	10	99683092	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		99683092	35851655	46	546											
DEAF1	10522	broad.mit.edu	37	chr11	688025	688025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccacctttttcttggcCgggagccagaggggttggag	6	11	15	9	1	1	1	0	0	1	1	2	3	2	3	4	5	1	2	4	5	0	5	rs371722695		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:688025C>T	ENST00000382409.3	-	4	1034	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_ENST00000338675.6_Missense_Mutation_p.G184S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	184					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547																																						uc001lqq.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(550-552)Ggc>Agc		Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	54	62	60		550	4.8	1	11		60	0,8600		0,0,4300	no	missense	DEAF1	NM_021008.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	184/566	688025	1,13005	2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688025C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.550G>A	11.37:g.688025C>T	ENSP00000371846:p.Gly184Ser					DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G184S	p.G184S	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	3	1243	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	184					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.550G>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531880	0.64972	2.27E-4	0.0	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.63417	-0.04	4.77	4.77	0.60923	.	0.266086	0.31071	N	0.008302	T	0.49287	0.1548	N	0.19112	0.55	0.45995	D	0.998808	D	0.60575	0.988	P	0.46275	0.51	T	0.46076	-0.9217	10	0.07813	T	0.8	-38.5118	16.9509	0.86245	0.0:1.0:0.0:0.0	.	184	O75398	DEAF1_HUMAN	S	184;184;170;107	ENSP00000371846:G184S	ENSP00000341902:G184S	G	-	1	0	DEAF1	678025	0.998000	0.40836	0.971000	0.41717	0.944000	0.59088	4.618000	0.61211	2.349000	0.79799	0.655000	0.94253	GGC		0.547	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		T	688025	C	T	688025	3	4	8	1	0	0	0	0	1	0	0	0	4380	652	23	2	1183	2	DEAF1	11	688025	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		688025	134318491	47	547											
OR51E1	143503	broad.mit.edu	37	chr11	4674216	4674216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtggctgctgtggtgCggggggctgcactgatggca	3	11	20	7	1	0	1	0	1	0	0	0	1	0	1	0	7	3	5	0	7	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:4674216C>T	ENST00000396952.5	+	2	1110	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557																																						uc021qcq.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(460-462)Cgg>Tgg		Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.							112	95	101					11																	4674216		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674216C>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.460C>T	11.37:g.4674216C>T	ENSP00000380155:p.Arg154Trp					OR51E1_uc001lzi.4_Missense_Mutation_p.R154W	p.R154W	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	460	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	153					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.460C>T	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780979	0.49891	.	.	ENSG00000180785	ENST00000396952	T	0.71817	-0.6	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	D	0.85062	0.5611	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87261	0.2279	10	0.87932	D	0	.	11.7308	0.51735	0.3182:0.6818:0.0:0.0	.	153	Q8TCB6	O51E1_HUMAN	W	154	ENSP00000380155:R154W	ENSP00000380155:R154W	R	+	1	2	OR51E1	4630792	0.000000	0.05858	0.602000	0.28890	0.534000	0.34807	-0.421000	0.07053	1.313000	0.45069	0.655000	0.94253	CGG		0.557	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		T	4674216	C	T	4674216	3	4	8	1	0	0	0	0	1	0	0	0	11094	759	27	1	462	1	OR51E1	11	4674216	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	3986191	4674216	130332300	48	548											
OR2AG1	144125	broad.mit.edu	37	chr11	6807033	6807033	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgttctatggagctgcCacattcatgtatgtcttgcc	7	14	11	9	0	3	0	1	0	2	0	3	2	3	2	2	2	3	3	2	2	2	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:6807033C>G	ENST00000307401.4	+	1	786	c.765C>G	c.(763-765)gcC>gcG	p.A255A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGAGCTGCCACATTCATGT	0.488																																						uc001mer.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(763-765)gcC>gcG		Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.							149	132	138					11																	6807033		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6807033C>G	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.765C>G	11.37:g.6807033C>G							p.A255A	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	0	786	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	255					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.765C>G	CCDS31414.1																																																																																				0.488	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		G	6807033	C	G	6807033	2	3	8	1	0	0	0	0	0	0	0	1	10984	581	21	5		5	OR2AG1	11	6807033	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	2132817	6807033	128199483	49	549											
OR4C12	283093	broad.mit.edu	37	chr11	50004010	50004010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaagacctattaaaatgaAttcagtcacattctttttct	13	17	4	7	0	4	2	2	1	2	1	4	2	4	2	1	0	0	1	1	0	5	7			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:50004010A>G	ENST00000335238.4	-	1	61	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTAAAATGAATTCAGTCACA	0.338																																						uc010ria.2																			0		p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(28-30)Ttc>Ctc		Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.							49	46	47					11																	50004010		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50004010A>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.28T>C	11.37:g.50004010A>G	ENSP00000334418:p.Phe10Leu						p.F10L	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			0	62	-			10					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.28T>C	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	18.89	3.718802	0.68844	.	.	ENSG00000221954	ENST00000335238	T	0.04454	3.62	3.31	3.31	0.37934	.	0.000000	0.44097	U	0.000483	T	0.13586	0.0329	M	0.92169	3.28	0.31534	N	0.660825	P	0.37731	0.607	B	0.40636	0.335	T	0.05733	-1.0867	10	0.56958	D	0.05	.	10.0552	0.42241	1.0:0.0:0.0:0.0	.	10	Q96R67	OR4CC_HUMAN	L	10	ENSP00000334418:F10L	ENSP00000334418:F10L	F	-	1	0	OR4C12	49960586	0.993000	0.37304	0.882000	0.34594	0.785000	0.44390	3.051000	0.49885	1.528000	0.49103	0.325000	0.21440	TTC		0.338	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		G	50004010	A	G	50004010	3	3	8	1	0	0	0	0	1	0	0	0	11046	101	4	4	905	4	OR4C12	11	50004010	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08	43196977	50004010	85002506	50	550											
FIBP	9158	broad.mit.edu	37	chr11	65655866	65655866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagggtcgtgttccccacGaagatgtccagctcactggt	9	10	11	11	2	1	1	1	0	0	1	4	2	3	1	3	2	1	2	3	2	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:65655866G>A	ENST00000338369.2	-	1	136	c.24C>T	c.(22-24)ttC>ttT	p.F8F	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Silent_p.F8F|FIBP_ENST00000533045.1_Silent_p.F8F|CCDC85B_ENST00000312579.2_5'Flank	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	8					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGTTCCCCACGAAGATGTCCA	0.682											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogd.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(22-24)ttC>ttT		Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.							43	31	35					11																	65655866		2193	4266	6459	SO:0001819	synonymous_variant	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65655866G>A	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.24C>T	11.37:g.65655866G>A			OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_uc001oge.3_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.3_5'Flank	p.F8F	NM_198897	NP_942600	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	0	145	-			8					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Silent	SNP	ENST00000338369.2	37	c.24C>T	CCDS8119.1																																																																																				0.682	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		A	65655866	G	A	65655866	2	1	8	1	0	0	0	0	0	0	0	1	5886	1049	37	2		2	FIBP	11	65655866	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	15651856	65655866	69350650	51	551											
MMP1	4312	broad.mit.edu	37	chr11	102663439	102663439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaattgagctcaacttcCgggtagaagggatttgtgcg	11	11	13	6	2	1	3	1	2	0	1	2	4	2	4	1	2	3	2	1	2	4	4	rs571363149	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:102663439C>T	ENST00000315274.6	-	7	997	c.930G>A	c.(928-930)ccG>ccA	p.P310P	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	310					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GCTCAACTTCCGGGTAGAAGG	0.423													C|||	4	0.000798722	0	0	5008	,	,		18035	0		0	False		,,,				2504	0.0041					uc001phi.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(928-930)ccG>ccA		Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.							114	114	114					11																	102663439		2203	4299	6502	SO:0001819	synonymous_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663439C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.930G>A	11.37:g.102663439C>T						LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	p.P310P	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	1073	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	310			Hemopexin-like 1.		P08156	Silent	SNP	ENST00000315274.6	37	c.930G>A	CCDS8322.1																																																																																				0.423	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		T	102663439	C	T	102663439	2	4	8	1	0	0	0	0	0	0	0	1	9648	639	23	2		2	MMP1	11	102663439	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	37007573	102663439	32343077	52	552											
OR8D4	338662	broad.mit.edu	37	chr11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcaggttgtctttctgtgGatcaaacatcattaaacatt	12	15	6	8	0	5	0	3	0	2	0	5	1	5	1	0	2	2	1	0	2	3	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:123777647G>A	ENST00000321355.2	+	1	539	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																						uc010saa.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(508-510)gGa>gAa		Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.							218	214	216					11																	123777647		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777647G>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>A	11.37:g.123777647G>A	ENSP00000325381:p.Gly170Glu						p.G170E	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	0	509	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	170					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.509G>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313868	0.05422	.	.	ENSG00000181518	ENST00000321355	T	0.38887	1.11	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.39226	0.1070	M	0.69463	2.115	0.09310	N	1	B	0.21225	0.053	B	0.30251	0.113	T	0.36212	-0.9757	10	0.20046	T	0.44	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	E	170	ENSP00000325381:G170E	ENSP00000325381:G170E	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA		0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		A	123777647	G	A	123777647	3	1	8	1	0	0	0	0	1	0	0	0	11233	1174	41	3	511	3	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	21114208	123777647	11228869	53	553											
KCNMB4	27345	broad.mit.edu	37	chr12	70793987	70793987	+	Splice_Site	DEL	A	A	-																															tttctgtattctattttgttAgtgctcctatatccctccct																										TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:70793987delA	ENST00000258111.4	+	2	795		c.e2-1			NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4						action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CTATTTTGTTAGTGCTCCTAT	0.333																																						uc001svx.3																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.e2-2		Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.							103	104	104					12																	70793987		2203	4300	6503	SO:0001630	splice_region_variant	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70793987delA	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.337-1A>-	12.37:g.70793987delA							p.C113_splice	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		2	790	+	Renal(347;0.236)		113					Q8IVR3|Q9NPA4|Q9P0G5	Splice_Site	DEL	ENST00000258111.4	37	c.337_splice	CCDS8997.1																																																																																				0.333	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505	Intron	-	70793987	A	-	70793987	8	5	8	1	0	1	0	1	0	0	1	0	8077	434	15	0	341	0	KCNMB4	12	70793987	Splice_Site	DEL	A	TCGA-02-2486-01A-01D-1494-08		70793987	63057908	54	554											
ANKS1B	56899	broad.mit.edu	37	chr12	100166859	100166859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgataattctccagtgacGgtttcacctatgagaataat	12	15	7	7	1	2	3	1	3	1	1	3	4	2	3	2	1	0	1	2	1	4	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:100166859G>A	ENST00000547776.2	-	8	968	c.969C>T	c.(967-969)acC>acT	p.T323T	ANKS1B_ENST00000329257.7_Silent_p.T323T|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	323						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCAGTGACGGTTTCACCTA	0.323																																						uc001tge.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(967-969)acC>acT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.							86	81	82					12																	100166859		1793	4065	5858	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100166859G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.969C>T	12.37:g.100166859G>A						ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	p.T323T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	7	1386	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	323					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.969C>T	CCDS55872.1																																																																																				0.323	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	100166859	G	A	100166859	2	1	8	1	0	0	0	0	0	0	0	1	689	1103	39	2		2	ANKS1B	12	100166859	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	29372872	100166859	33685036	55	555											
KDM2B	84678	broad.mit.edu	37	chr12	121880300	121880300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggggccgcttgggctcctCgccctcgctctcaggctccg	1	8	14	18	5	1	0	1	0	1	0	6	0	3	0	4	4	0	4	4	4	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:121880300C>T	ENST00000377071.4	-	19	3016	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E350K|KDM2B_ENST00000377069.4_Missense_Mutation_p.E913K	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	982					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGGCTCCTCGCCCTCGCTC	0.687																																						uc001uat.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2944-2946)Gag>Aag		Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.							25	29	28					12																	121880300		2119	4221	6340	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880300C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2944G>A	12.37:g.121880300C>T	ENSP00000366271:p.Glu982Lys					KDM2B_uc010szy.2_Missense_Mutation_p.E422K|KDM2B_uc001uaq.3_Missense_Mutation_p.E422K|KDM2B_uc001uar.3_Missense_Mutation_p.E573K|KDM2B_uc001uas.3_Missense_Mutation_p.E913K|KDM2B_uc021rfd.1_Missense_Mutation_p.E913K|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E982K|KDM2B_uc001uao.3_Missense_Mutation_p.E230K|KDM2B_uc010szx.2_Missense_Mutation_p.E230K|KDM2B_uc001uap.3_Non-coding_Transcript	p.E982K	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			18	3048	-			982					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2944G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709271	0.68615	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.23950	2.17;2.46;1.88	5.35	5.35	0.76521	.	1.245110	0.05453	N	0.549762	T	0.34542	0.0901	L	0.55481	1.735	0.80722	D	1	D;B;D;P	0.56035	0.974;0.147;0.97;0.926	B;B;B;B	0.41466	0.358;0.023;0.191;0.138	T	0.46569	-0.9182	10	0.36615	T	0.2	-22.2692	19.0704	0.93134	0.0:1.0:0.0:0.0	.	422;982;913;425	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	K	970;350;913;982;425;985	ENSP00000437821:E350K;ENSP00000366269:E913K;ENSP00000366271:E982K	ENSP00000261824:E985K	E	-	1	0	KDM2B	120364683	0.999000	0.42202	0.976000	0.42696	0.010000	0.07245	3.990000	0.56965	2.501000	0.84356	0.655000	0.94253	GAG		0.687	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		T	121880300	C	T	121880300	3	4	8	1	0	0	0	0	1	0	0	0	8125	893	31	2	1138	2	KDM2B	12	121880300	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	21713441	121880300	11971595	56	556											
PAN3	255967	broad.mit.edu	37	chr13	28841518	28841518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccctaatgctgatgcctActtcaccaagagaaagtggg	12	9	10	10	0	1	3	1	2	0	1	1	4	1	3	3	1	3	1	3	1	4	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:28841518A>C	ENST00000380958.3	+	12	1924	c.1772A>C	c.(1771-1773)tAc>tCc	p.Y591S	PAN3_ENST00000282391.5_Missense_Mutation_p.Y279S|PAN3_ENST00000399613.1_Missense_Mutation_p.Y391S	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGATGCCTACTTCACCAAG	0.363																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1771-1773)tAc>tCc		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							101	94	96					13																	28841518		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28841518A>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1772A>C	13.37:g.28841518A>C	ENSP00000370345:p.Tyr591Ser					PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.3_Missense_Mutation_p.Y279S|PAN3_uc001urx.3_Missense_Mutation_p.Y391S	p.Y591S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	11	1924	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	591			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1772A>C	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	9.846	1.192264	0.21954	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.39592	1.07;1.07;1.07	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055702	0.64402	D	0.000001	T	0.21227	0.0511	N	0.03177	-0.4	0.80722	D	1	B;B;B;B	0.20261	0.019;0.043;0.005;0.017	B;B;B;B	0.22753	0.041;0.02;0.004;0.008	T	0.12837	-1.0532	10	0.08381	T	0.77	-11.5191	15.7196	0.77697	1.0:0.0:0.0:0.0	.	591;591;279;537	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	S	591;391;279	ENSP00000370345:Y591S;ENSP00000382522:Y391S;ENSP00000282391:Y279S	ENSP00000282391:Y279S	Y	+	2	0	PAN3	27739518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.327000	0.79147	2.122000	0.65172	0.528000	0.53228	TAC		0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		C	28841518	A	C	28841518	3	2	8	1	0	0	0	0	1	0	0	0	11415	391	14	5	1818	5	PAN3	13	28841518	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08		28841518	86328360	57	557											
RXFP2	122042	broad.mit.edu	37	chr13	32360537	32360537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggatctgtctagcaataCgataacggaactatcacctc	13	9	8	11	2	3	0	1	0	2	0	4	3	3	2	1	2	4	1	1	2	6	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:32360537C>T	ENST00000298386.2	+	12	1018	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T292M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	316					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTAGCAATACGATAACGGAA	0.358																																						uc001utt.3																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(946-948)aCg>aTg		Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.							122	111	115					13																	32360537		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32360537C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.947C>T	13.37:g.32360537C>T	ENSP00000298386:p.Thr316Met					RXFP2_uc010aba.3_Missense_Mutation_p.T292M	p.T316M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	11	1018	+		Lung SC(185;0.0262)	316					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.947C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527268	0.27299	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.57752	0.38;0.38	5.72	1.32	0.21799	.	0.418879	0.29466	N	0.012063	T	0.24122	0.0584	N	0.05383	-0.06	0.18873	N	0.999987	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.06881	-1.0802	10	0.35671	T	0.21	.	1.9951	0.03455	0.2094:0.0775:0.252:0.4611	.	292;316	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	M	292;316	ENSP00000369670:T292M;ENSP00000298386:T316M	ENSP00000298386:T316M	T	+	2	0	RXFP2	31258537	0.000000	0.05858	0.872000	0.34217	0.879000	0.50718	-0.403000	0.07214	0.419000	0.25927	-0.254000	0.11334	ACG		0.358	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		T	32360537	C	T	32360537	3	4	8	1	0	0	0	0	1	0	0	0	13760	536	19	1	993	1	RXFP2	13	32360537	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	3519019	32360537	82809341	58	558											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663774	92663774	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgcatggagattgcAgtggtggctggcttcgctgc	4	10	16	11	2	0	1	0	0	0	1	1	2	0	1	2	4	3	5	2	4	0	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:92663774A>C	ENST00000318445.6	+	5	1303	c.1089A>C	c.(1087-1089)gcA>gcC	p.A363A	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.A363A	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	363					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TGGAGATTGCAGTGGTGGCTG	0.567																																						uc002bqx.2																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1087-1089)gcA>gcC		Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.							213	189	197					15																	92663774		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92663774A>C	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1089A>C	15.37:g.92663774A>C						SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A305A	p.A363A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1290	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		363					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.1089A>C	CCDS10371.1																																																																																				0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		C	92663774	A	C	92663774	2	2	8	1	0	0	0	0	0	0	0	1	14728	175	7	5		5	SLCO3A1	15	92663774	Silent	SNP	A	TCGA-02-2486-01A-01D-1494-08		92663774	9867618	59	559											
LASS3	204219	broad.mit.edu	37	chr15	101013181	101013181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcacgagggtcccactgCgaatataattagcacaccaa	14	8	7	12	2	2	0	2	0	0	0	3	2	3	0	2	1	2	1	2	1	5	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:101013181C>T	ENST00000394113.1	-	11	1376	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CERS3_ENST00000538112.2_Missense_Mutation_p.R229H|CERS3_ENST00000284382.4_Missense_Mutation_p.R229H|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	229	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R229H(1)									GGTCCCACTGCGAATATAATT	0.433																																						uc002bwa.3																			1	Substitution - Missense(1)	p.R229H(1)	large_intestine(1)								c.(718-720)cGc>cAc		Homo sapiens ceramide synthase 3 (CERS3), mRNA.							116	100	105					15																	101013181		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101013181C>T		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.686G>A	15.37:g.101013181C>T	ENSP00000377672:p.Arg229His					CERS3_uc002bvz.3_Missense_Mutation_p.R229H|CERS3_uc002bwb.3_Missense_Mutation_p.R229H	p.R240H	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN			10	1290	-			229			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.719G>A	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215021	0.95104	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.86097	-2.07;-2.07	5.92	5.92	0.95590	TRAM/LAG1/CLN8 homology domain (3);	0.097175	0.64402	D	0.000001	D	0.93598	0.7956	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93419	0.6775	10	0.54805	T	0.06	-7.9321	19.0795	0.93177	0.0:1.0:0.0:0.0	.	229	Q8IU89	CERS3_HUMAN	H	229;240;229	ENSP00000284382:R229H;ENSP00000437640:R229H	ENSP00000284382:R229H	R	-	2	0	CERS3	98830704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.620000	0.74224	2.795000	0.96236	0.655000	0.94253	CGC		0.433	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		T	101013181	C	T	101013181	3	4	8	1	0	0	0	0	1	0	0	0	8640	768	27	1	481	1	LASS3	15	101013181	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	8349407	101013181	1518211	60	560											
PDIA2	64714	broad.mit.edu	37	chr16	334899	334899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgcaggacgaggacgtgGccaccttcttggccttggcc	6	8	13	14	2	1	0	0	0	1	0	1	3	1	2	5	5	1	1	5	5	0	3	rs141542731	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr16:334899G>A	ENST00000219406.6	+	4	580	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	PDIA2_ENST00000404312.1_Missense_Mutation_p.A185T|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	188					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGAGGACGTGGCCACCTTCTT	0.672													g|||	8	0.00159744	0	0.0014	5008	,	,		16585	0		0.006	False		,,,				2504	0.001					uc002cgn.1																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(562-564)Gcc>Acc		Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.		G	THR/ALA	7,4111		0,7,2052	43	50	48		562	3.8	0.8	16	dbSNP_134	48	98,8272		0,98,4087	yes	missense	PDIA2	NM_006849.2	58	0,105,6139	AA,AG,GG		1.1708,0.17,0.8408	possibly-damaging	188/526	334899	105,12383	2059	4185	6244	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:334899G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.562G>A	16.37:g.334899G>A	ENSP00000219406:p.Ala188Thr					LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A188T|PDIA2_uc010bqt.1_Missense_Mutation_p.A33T	p.A188T	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			8	1670	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	188					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.562G>A	CCDS42089.1	9	0.004120879120879121	0	0.0	4	0.011049723756906077	0	0.0	5	0.006596306068601583	g	9.501	1.103229	0.20632	0.0017	0.011708	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.28895	1.59;1.59	3.75	3.75	0.43078	Thioredoxin-like fold (2);	0.322570	0.28736	N	0.014301	T	0.22126	0.0533	L	0.55481	1.735	0.09310	N	1	B	0.23249	0.082	B	0.33568	0.166	T	0.23226	-1.0194	10	0.66056	D	0.02	.	5.2577	0.15555	0.1147:0.2124:0.6729:0.0	.	188	Q13087	PDIA2_HUMAN	T	188;157;185	ENSP00000219406:A188T;ENSP00000384410:A185T	ENSP00000219406:A188T	A	+	1	0	PDIA2	274900	0.384000	0.25164	0.792000	0.32020	0.564000	0.35744	2.460000	0.45031	1.925000	0.55765	0.457000	0.33378	GCC		0.672	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	334899	G	A	334899	3	1	8	1	0	0	0	0	1	0	0	0	11668	1203	42	3	576	3	PDIA2	16	334899	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		334899	90019854	61	561											
MYH13	8735	broad.mit.edu	37	chr17	10212612	10212612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgctctgacagcctgCgggtccgctccgtctgttcc	2	11	11	17	3	2	1	0	1	2	0	6	1	6	1	5	1	3	4	5	1	0	1	rs142532419	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:10212612C>T	ENST00000418404.3	-	34	5271	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACAGCCTGCGGGTCCGCTC	0.667													C|||	5	0.000998403	0.003	0	5008	,	,		17664	0		0.001	False		,,,				2504	0					uc002gmk.1																			0		p.R1703S(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5107-5109)cGc>cAc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.		C	HIS/ARG	0,4232		0,0,2116	26	28	27		5108	3.5	1	17	dbSNP_134	27	2,8470		0,2,4234	yes	missense	MYH13	NM_003802.2	29	0,2,6350	TT,TC,CC		0.0236,0.0,0.0157	probably-damaging	1703/1939	10212612	2,12702	2116	4236	6352	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212612C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5108G>A	17.37:g.10212612C>T	ENSP00000404570:p.Arg1703His						p.R1703H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			34	5198	-			1703					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5108G>A	CCDS45613.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	0	0.0	3	0.00395778364116095	C	25.4	4.637184	0.87760	0.0	2.36E-4	ENSG00000006788	ENST00000252172	D	0.84873	-1.91	4.45	3.46	0.39613	Myosin tail (1);	.	.	.	.	D	0.93337	0.7876	H	0.98218	4.175	0.40050	D	0.975768	D	0.89917	1.0	D	0.91635	0.999	D	0.95052	0.8188	9	0.87932	D	0	.	14.1534	0.65401	0.1509:0.8491:0.0:0.0	.	1703	Q9UKX3	MYH13_HUMAN	H	1703	ENSP00000252172:R1703H	ENSP00000252172:R1703H	R	-	2	0	MYH13	10153337	0.984000	0.35163	0.999000	0.59377	0.960000	0.62799	4.708000	0.61859	1.207000	0.43291	0.655000	0.94253	CGC		0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10212612	C	T	10212612	3	4	8	1	0	0	0	0	1	0	0	0	10032	768	27	1	736	1	MYH13	17	10212612	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		10212612	70982598	62	562											
STAT5A	6776	broad.mit.edu	37	chr17	40458321	40458321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtgaggcgctcaaCatgaaattcaaggccgaagt	12	8	12	9	2	2	2	2	2	0	0	2	3	2	2	1	2	2	2	1	2	4	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:40458321C>T	ENST00000345506.4	+	14	2178	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	STAT5A_ENST00000588868.1_Silent_p.N481N|STAT5A_ENST00000590949.1_Silent_p.N512N|STAT5A_ENST00000452307.2_Silent_p.N512N|STAT5A_ENST00000546010.2_Silent_p.N482N|STAT5A_ENST00000587646.1_5'UTR	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	512					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGGCGCTCAACATGAAATTCA	0.572																																						uc002hzj.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1534-1536)aaC>aaT		Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.							92	81	85					17																	40458321		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40458321C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1536C>T	17.37:g.40458321C>T						STAT5A_uc010cya.2_Silent_p.N512N|STAT5A_uc010cyb.2_Silent_p.N481N|STAT5A_uc010cyc.2_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR	p.N512N	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	13	2178	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	512					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.1536C>T	CCDS11424.1																																																																																				0.572	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		T	40458321	C	T	40458321	2	4	8	1	0	0	0	0	0	0	0	1	15267	477	17	3		3	STAT5A	17	40458321	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	30245709	40458321	40736889	63	563											
MPP3	4356	broad.mit.edu	37	chr17	41888484	41888484	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaagcaacgtacttgtTgtgatgtaagtcggcctcaa	11	11	9	10	2	2	1	2	1	0	0	3	1	2	1	2	1	3	4	2	1	5	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:41888484T>G	ENST00000398389.4	-	17	1510	c.1345A>C	c.(1345-1347)Aac>Cac	p.N449H	MPP3_ENST00000475450.1_5'Flank|MPP3_ENST00000398393.1_Missense_Mutation_p.N474H	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	449	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACGTACTTGTTGTGATGTAAG	0.483																																						uc002ieh.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1420-1422)Aac>Cac		Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.							106	103	104					17																	41888484		1913	4131	6044	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41888484T>G		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1345A>C	17.37:g.41888484T>G	ENSP00000381425:p.Asn449His					MPP3_uc002iei.4_Missense_Mutation_p.N449H|MPP3_uc002iej.3_Non-coding_Transcript	p.N474H	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	14	1681	-		Breast(137;0.00394)	449			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1420A>C	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045165	0.36085	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.19394	2.15;2.15	5.38	4.28	0.50868	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.145203	0.64402	N	0.000009	T	0.26919	0.0659	L	0.42744	1.35	0.47584	D	0.999462	P;P	0.44344	0.635;0.833	P;P	0.53760	0.461;0.734	T	0.03008	-1.1083	10	0.12103	T	0.63	.	11.1754	0.48596	0.0:0.0:0.1539:0.8461	.	449;474	Q13368;D3DX46	MPP3_HUMAN;.	H	474;449	ENSP00000381430:N474H;ENSP00000381425:N449H	ENSP00000381425:N449H	N	-	1	0	MPP3	39244010	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.685000	0.46959	1.023000	0.39654	0.533000	0.62120	AAC		0.483	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		G	41888484	T	G	41888484	3	3	8	1	0	0	0	0	1	0	0	0	9735	1812	63	5	428	5	MPP3	17	41888484	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	1430163	41888484	39306726	64	564											
ASXL3	80816	broad.mit.edu	37	chr18	31320334	31320334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgatcagtcaacccGgaacatatcatctagcagcc	15	7	8	11	1	4	3	3	1	1	2	4	4	4	4	2	1	4	1	2	1	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:31320334G>A	ENST00000269197.5	+	11	2966	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	989					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGTCAACCCGGAACATATCA	0.433																																						uc010dmg.1																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(2965-2967)cGg>cAg		Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.							37	37	37					18																	31320334		1859	4101	5960	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31320334G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2966G>A	18.37:g.31320334G>A	ENSP00000269197:p.Arg989Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	p.R989Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			10	3021	+			989					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2966G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647670	0.47258	.	.	ENSG00000141431	ENST00000269197	T	0.56275	0.47	5.93	5.06	0.68205	.	1.008390	0.07969	N	0.983687	T	0.33381	0.0861	N	0.20807	0.61	0.40487	D	0.980509	P	0.39352	0.669	B	0.20955	0.032	T	0.05550	-1.0878	10	0.30078	T	0.28	.	11.1621	0.48522	0.14:0.0:0.86:0.0	.	989	Q9C0F0	ASXL3_HUMAN	Q	989	ENSP00000269197:R989Q	ENSP00000269197:R989Q	R	+	2	0	ASXL3	29574332	1.000000	0.71417	0.046000	0.18839	0.389000	0.30415	6.597000	0.74118	1.515000	0.48885	0.655000	0.94253	CGG		0.433	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31320334	G	A	31320334	3	1	8	1	0	0	0	0	1	0	0	0	1068	1116	39	2	3008	2	ASXL3	18	31320334	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		31320334	46756914	65	565											
ZNF516	9658	broad.mit.edu	37	chr18	74154420	74154420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcacttgaacggcttGtgcgcctggtgcacgtgcag	6	9	14	12	3	0	1	0	1	0	0	0	1	0	1	2	2	6	4	2	2	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:74154420G>T	ENST00000443185.2	-	3	908	c.591C>A	c.(589-591)caC>caA	p.H197Q	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAACGGCTTGTGCGCCTGGT	0.667																																						uc021ulp.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(589-591)caC>caA		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.							25	27	26					18																	74154420		2151	4249	6400	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154420G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.591C>A	18.37:g.74154420G>T	ENSP00000394757:p.His197Gln						p.H197Q	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	909	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	197						Missense_Mutation	SNP	ENST00000443185.2	37	c.591C>A		.	.	.	.	.	.	.	.	.	.	G	17.28	3.350709	0.61183	.	.	ENSG00000101493	ENST00000443185	T	0.01527	4.8	4.53	3.65	0.41850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.214248	0.40908	D	0.000982	T	0.09247	0.0228	.	.	.	0.48632	D	0.999682	D	0.89917	1.0	D	0.91635	0.999	T	0.01524	-1.1333	9	0.66056	D	0.02	-2.0813	12.9392	0.58333	0.0791:0.0:0.9209:0.0	.	197	Q92618	ZN516_HUMAN	Q	197	ENSP00000394757:H197Q	ENSP00000394757:H197Q	H	-	3	2	ZNF516	72283408	0.991000	0.36638	0.998000	0.56505	0.880000	0.50808	0.095000	0.15127	1.267000	0.44247	-0.140000	0.14226	CAC		0.667	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		T	74154420	G	T	74154420	3	4	8	1	0	0	0	0	1	0	0	0	17957	1368	48	5	2921	5	ZNF516	18	74154420	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	42834086	74154420	3922828	66	566											
CCDC105	126402	broad.mit.edu	37	chr19	15132195	15132195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctaaacgaagccaagcGgttgttggtcgagtccaagg	10	7	15	9	4	0	0	0	0	0	0	2	2	1	0	2	4	3	3	2	4	5	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:15132195G>A	ENST00000292574.3	+	4	987	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	302						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAAGCCAAGCGGTTGTTGGTC	0.597																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(904-906)cGg>cAg		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							74	54	61					19																	15132195		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132195G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.905G>A	19.37:g.15132195G>A	ENSP00000292574:p.Arg302Gln						p.R302Q	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			3	1004	+			302					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.905G>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	7.118	0.577339	0.13686	.	.	ENSG00000160994	ENST00000292574	T	0.02579	4.24	3.71	0.296	0.15757	.	0.602105	0.14650	N	0.306680	T	0.01730	0.0055	L	0.38838	1.175	0.18873	N	0.999986	P	0.37781	0.608	B	0.28305	0.088	T	0.46707	-0.9172	10	0.16420	T	0.52	-7.0287	3.1262	0.06408	0.2332:0.0:0.5562:0.2106	.	302	Q8IYK2	CC105_HUMAN	Q	302	ENSP00000292574:R302Q	ENSP00000292574:R302Q	R	+	2	0	CCDC105	14993195	0.107000	0.21998	0.247000	0.24249	0.031000	0.12232	0.043000	0.13971	0.055000	0.16094	-0.187000	0.12897	CGG		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15132195	G	A	15132195	3	1	8	1	0	0	0	0	1	0	0	0	2740	1116	39	2	919	2	CCDC105	19	15132195	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		15132195	43996788	67	567											
TMEM161A	54929	broad.mit.edu	37	chr19	19232455	19232455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgccagtcccacgcggaTagccagcttggccacaggaa	10	5	11	15	2	0	0	0	0	0	0	1	2	1	2	4	3	3	1	4	3	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:19232455T>C	ENST00000162044.9	-	8	743	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	TMEM161A_ENST00000587583.2_Missense_Mutation_p.I202V|TMEM161A_ENST00000450333.2_Missense_Mutation_p.I124V	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	227					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCCACGCGGATAGCCAGCTTG	0.677																																						uc002nlg.3																			0		p.I227I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(679-681)Atc>Gtc		Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.							45	48	47					19																	19232455		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19232455T>C	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.679A>G	19.37:g.19232455T>C	ENSP00000162044:p.Ile227Val					TMEM161A_uc002nli.3_Missense_Mutation_p.I124V	p.I227V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		7	709	-			227					B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.679A>G	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.552688	0.00918	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	1.33	0.21861	.	0.185852	0.46145	N	0.000310	T	0.06325	0.0163	N	0.01109	-1.01	0.29757	N	0.835889	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.31916	-0.9926	9	0.02654	T	1	-5.8674	2.5618	0.04773	0.2666:0.2595:0.0:0.4738	.	124;124;227	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	V	124;227	.	ENSP00000162044:I227V	I	-	1	0	TMEM161A	19093455	0.012000	0.17670	0.493000	0.27502	0.336000	0.28762	0.129000	0.15830	0.237000	0.21200	0.482000	0.46254	ATC		0.677	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		C	19232455	T	C	19232455	3	2	8	1	0	0	0	0	1	0	0	0	16073	1406	49	4	780	4	TMEM161A	19	19232455	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	4100260	19232455	39896528	68	568											
NUP62	23636	broad.mit.edu	37	chr19	50411934	50411934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcaccttctccacctcGcggtgcaggctggtgatctt	5	12	10	14	2	3	1	1	1	2	0	5	1	3	1	3	3	2	3	3	3	0	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:50411934G>A	ENST00000596217.1	-	2	3018	c.1131C>T	c.(1129-1131)cgC>cgT	p.R377R	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597723.1_Silent_p.R301R|NUP62_ENST00000597029.1_Silent_p.R377R|NUP62_ENST00000413454.1_Silent_p.R377R|NUP62_ENST00000352066.3_Silent_p.R377R|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.R377R			P37198	NUP62_HUMAN	nucleoporin 62kDa	377					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCCACCTCGCGGTGCAGGC	0.612																																						uc002prb.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(1129-1131)cgC>cgT		Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.							109	103	105					19																	50411934		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50411934G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1131C>T	19.37:g.50411934G>A						IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.R377R|NUP62_uc002pqy.3_Silent_p.R377R|NUP62_uc002pra.3_Silent_p.R377R|NUP62_uc002pqz.3_Silent_p.R377R|NUP62_uc002prc.3_Silent_p.R301R|NUP62_uc021uya.1_Silent_p.R377R	p.R377R	NM_012346	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	1	1375	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	377					B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.1131C>T	CCDS12788.1																																																																																				0.612	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		A	50411934	G	A	50411934	2	1	8	1	0	0	0	0	0	0	0	1	10768	1074	38	1		1	NUP62	19	50411934	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	31179479	50411934	8717049	69	569											
ISM1	140862	broad.mit.edu	37	chr20	13279712	13279712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaggtggcctacagcaCggccgacatcttcgaccgca	9	6	11	15	4	1	1	0	1	1	0	2	3	1	1	3	3	2	2	3	3	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr20:13279712C>T	ENST00000262487.4	+	6	1007	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	334	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCCTACAGCACGGCCGACATC	0.582																																						uc010gce.1																			0		p.T334T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1000-1002)aCg>aTg		Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.							46	52	50					20																	13279712		2117	4230	6347	SO:0001583	missense	140862					extracellular region		g.chr20:13279712C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1001C>T	20.37:g.13279712C>T	ENSP00000262487:p.Thr334Met					TASP1_uc010zri.1_Intron	p.T334M	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			5	1007	+			334			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1001C>T	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034933	0.54896	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.46063	0.88;0.88	5.88	4.93	0.64822	AMOP (3);	0.188477	0.56097	D	0.000029	T	0.39226	0.1070	N	0.14661	0.345	0.80722	D	1	P	0.51147	0.942	P	0.50270	0.636	T	0.45498	-0.9257	10	0.72032	D	0.01	-11.7118	17.0323	0.86464	0.0:0.8726:0.1274:0.0	.	334	B1AKI9	ISM1_HUMAN	M	334;288	ENSP00000262487:T334M;ENSP00000409938:T288M	ENSP00000262487:T334M	T	+	2	0	ISM1	13227712	1.000000	0.71417	0.755000	0.31263	0.373000	0.29922	6.044000	0.71012	1.463000	0.47967	0.655000	0.94253	ACG		0.582	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			T	13279712	C	T	13279712	3	4	8	1	0	0	0	0	1	0	0	0	7860	536	19	1	1023	1	ISM1	20	13279712	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		13279712	49745808	70	570											
GRPR	2925	broad.mit.edu	37	chrX	16142187	16142187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgatgactggtcccacccGgggatcctctatgtcatccc	8	9	9	15	2	2	1	1	1	1	0	5	3	5	2	4	3	1	0	4	3	2	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chrX:16142187G>A	ENST00000380289.2	+	1	509	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	37					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGTCCCACCCGGGGATCCTCT	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cxj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(109-111)ccG>ccA		Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.							194	177	183					X																	16142187		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142187G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.111G>A	X.37:g.16142187G>A			OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.P37P	NM_005314	NP_005305	P30550	GRPR_HUMAN			0	764	+	Hepatocellular(33;0.183)		37					B2R910	Silent	SNP	ENST00000380289.2	37	c.111G>A	CCDS14174.1																																																																																				0.488	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		A	16142187	G	A	16142187	2	1	8	1	0	0	0	0	0	0	0	1	6808	1103	39	2		2	GRPR	23	16142187	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08		16142187	139128373	71	571											
TTC22	55001	broad.mit.edu	37	chr1	55266546	55266546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcattgaggttgccCgggtgctcgtgggccacctc	4	8	15	14	2	0	1	0	1	0	0	2	1	0	1	4	4	2	3	4	4	0	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:55266546C>T	ENST00000371276.4	-	1	394	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TTC22_ENST00000371274.4_Silent_p.P97P	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	97										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TGAGGTTGCCCGGGTGCTCGT	0.687																																						uc009vzt.1																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(289-291)ccG>ccA		Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.							12	14	14					1																	55266546		2190	4289	6479	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266546C>T	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.291G>A	1.37:g.55266546C>T						TTC22_uc001cxz.4_Silent_p.P97P	p.P97P	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN			0	396	-			97					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.291G>A	CCDS44152.1																																																																																				0.687	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		T	55266546	C	T	55266546	2	4	9	1	0	0	0	0	0	0	0	1	16686	639	23	2		2	TTC22	1	55266546	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08		55266546	193984075	1	572											
SPAG17	200162	broad.mit.edu	37	chr1	118624163	118624163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctgacccacacatcatcCcagaaggtttcagtttccct	11	11	5	14	0	3	2	2	1	1	1	5	2	5	2	3	1	0	2	3	1	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:118624163C>G	ENST00000336338.5	-	14	1930	c.1865G>C	c.(1864-1866)gGg>gCg	p.G622A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	622						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACACATCATCCCAGAAGGTTT	0.428																																						uc001ehk.2																			0		p.G622G(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1864-1866)gGg>gCg		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							169	157	161					1																	118624163		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624163C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1865G>C	1.37:g.118624163C>G	ENSP00000337804:p.Gly622Ala					SPAG17_uc021oss.1_5'Flank	p.G622A	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	13	1933	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	622					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1865G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355291	0.41700	.	.	ENSG00000155761	ENST00000336338	T	0.17370	2.28	5.12	-1.6	0.08426	.	1.051620	0.07338	N	0.880235	T	0.04137	0.0115	L	0.38175	1.15	0.09310	N	1	P	0.38504	0.634	B	0.31101	0.124	T	0.36866	-0.9730	10	0.37606	T	0.19	.	10.7328	0.46107	0.0:0.4432:0.0:0.5568	.	622	Q6Q759	SPG17_HUMAN	A	622	ENSP00000337804:G622A	ENSP00000337804:G622A	G	-	2	0	SPAG17	118425686	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.124000	0.15728	-0.234000	0.09782	0.591000	0.81541	GGG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		G	118624163	C	G	118624163	3	3	9	1	0	0	0	0	1	0	0	0	14979	623	22	5	4946	5	SPAG17	1	118624163	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	63357617	118624163	130626458	2	573											
ADAM30	11085	broad.mit.edu	37	chr1	120438344	120438344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcaaagagtaggatcaattCcaagtactttgggtgtttat	13	14	9	5	0	2	1	2	0	0	1	3	2	3	2	1	2	1	3	1	2	6	6			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:120438344C>G	ENST00000369400.1	-	1	774	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	206	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGATCAATTCCAAGTACTTT	0.403																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(616-618)Gaa>Caa		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							103	104	103					1																	120438344		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438344C>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.616G>C	1.37:g.120438344C>G	ENSP00000358407:p.Glu206Gln						p.E206Q	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	804	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	206			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.616G>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304120	0.60305	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.14766	2.48	4.67	4.67	0.58626	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.47455	D	0.000229	T	0.36853	0.0982	H	0.94183	3.505	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.41610	-0.9499	10	0.72032	D	0.01	.	12.9587	0.58444	0.0:1.0:0.0:0.0	.	206	Q9UKF2	ADA30_HUMAN	Q	206	ENSP00000358407:E206Q	ENSP00000358407:E206Q	E	-	1	0	ADAM30	120239867	0.024000	0.19004	0.089000	0.20774	0.015000	0.08874	0.509000	0.22707	2.418000	0.82041	0.563000	0.77884	GAA		0.403	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		G	120438344	C	G	120438344	3	3	9	1	0	0	0	0	1	0	0	0	248	864	30	5	1760	5	ADAM30	1	120438344	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1814181	120438344	128812277	3	574											
GPR52	9293	broad.mit.edu	37	chr1	174417320	174417320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgaatgtgtccgagcGtcactcctgcccacttggat	7	12	10	12	2	1	1	1	1	0	0	3	3	3	2	3	1	2	0	3	1	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:174417320G>A	ENST00000367685.2	+	1	109	c.71G>A	c.(70-72)cGt>cAt	p.R24H	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R24H(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTGTCCGAGCGTCACTCCTGC	0.483																																					Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1																			1	Substitution - Missense(1)	p.R24H(2)	large_intestine(1)	breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(70-72)cGt>cAt		Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.							216	177	190					1																	174417320		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417320G>A	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.71G>A	1.37:g.174417320G>A	ENSP00000356658:p.Arg24His					RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	p.R24H	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			0	109	+			24					O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.71G>A	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033346	0.02029	.	.	ENSG00000203737	ENST00000367685	T	0.60920	0.15	5.68	-2.31	0.06765	.	0.615902	0.14655	N	0.306327	T	0.31513	0.0799	N	0.08118	0	0.22199	N	0.999294	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	10	0.22109	T	0.4	-1.3255	11.7011	0.51571	0.7241:0.0:0.2759:0.0	.	24	Q9Y2T5	GPR52_HUMAN	H	24	ENSP00000356658:R24H	ENSP00000356658:R24H	R	+	2	0	GPR52	172683943	0.958000	0.32768	0.870000	0.34147	0.918000	0.54935	0.614000	0.24314	-0.466000	0.06943	-0.940000	0.02684	CGT		0.483	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		A	174417320	G	A	174417320	3	1	9	1	0	0	0	0	1	0	0	0	6698	1145	40	1	73	1	GPR52	1	174417320	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	53978976	174417320	74833301	4	575											
HMCN1	83872	broad.mit.edu	37	chr1	186056355	186056355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatttacctacaggtggtcGaactctacagattattcggg	10	13	9	9	2	1	1	0	0	1	1	3	2	1	1	1	3	4	0	1	3	6	7			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:186056355G>A	ENST00000271588.4	+	59	9282	c.9053G>A	c.(9052-9054)cGa>cAa	p.R3018Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3018Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3018	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGGTGGTCGAACTCTACAG	0.383																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9052-9054)cGa>cAa		Homo sapiens hemicentin 1 (HMCN1), mRNA.							125	118	120					1																	186056355		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056355G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9053G>A	1.37:g.186056355G>A	ENSP00000271588:p.Arg3018Gln					MIR548F1_uc021pgf.1_Intron	p.R3018Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			58	9282	+			3018			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9053G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232791	0.95207	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	N	0.21448	0.665	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.61544	-0.7041	10	0.16420	T	0.52	.	19.6959	0.96026	0.0:0.0:1.0:0.0	.	3018	Q96RW7	HMCN1_HUMAN	Q	3018	ENSP00000271588:R3018Q;ENSP00000356462:R3018Q	ENSP00000271588:R3018Q	R	+	2	0	HMCN1	184322978	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.979000	0.93455	2.648000	0.89879	0.655000	0.94253	CGA		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186056355	G	A	186056355	3	1	9	1	0	0	0	0	1	0	0	0	7220	1058	37	2	9287	2	HMCN1	1	186056355	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	11639035	186056355	63194266	5	576											
COG2	22796	broad.mit.edu	37	chr1	230807312	230807312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaatggccttcaggtcatGtataataaactcctggagtt	11	12	8	10	0	2	0	2	0	0	0	3	1	3	1	3	3	1	2	3	3	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:230807312G>C	ENST00000366669.4	+	8	940	c.825G>C	c.(823-825)atG>atC	p.M275I	COG2_ENST00000366668.3_Missense_Mutation_p.M275I|COG2_ENST00000535166.1_Missense_Mutation_p.M159I|COG2_ENST00000534989.1_Missense_Mutation_p.M216I	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	275					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCAGGTCATGTATAATAAAC	0.393																																						uc001htw.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(823-825)atG>atC		Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.							127	132	130					1																	230807312		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230807312G>C	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.825G>C	1.37:g.230807312G>C	ENSP00000355629:p.Met275Ile					COG2_uc001htx.3_Missense_Mutation_p.M275I|COG2_uc010pwc.2_Missense_Mutation_p.M148I	p.M275I	NM_007357	NP_031383	Q14746	COG2_HUMAN			7	976	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	275					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.825G>C	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020732	0.54576	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.1	5.1	0.69264	.	0.038433	0.85682	D	0.000000	T	0.20414	0.0491	L	0.29908	0.895	0.80722	D	1	P;B	0.40360	0.714;0.131	B;B	0.30251	0.113;0.026	T	0.05649	-1.0872	10	0.14656	T	0.56	-22.1254	18.4922	0.90852	0.0:0.0:1.0:0.0	.	275;275	Q86U99;Q14746	.;COG2_HUMAN	I	275;159;275;216	ENSP00000355629:M275I;ENSP00000445724:M159I;ENSP00000355628:M275I;ENSP00000440349:M216I	ENSP00000355628:M275I	M	+	3	0	COG2	228873935	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.995000	0.88328	2.371000	0.80710	0.557000	0.71058	ATG		0.393	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		C	230807312	G	C	230807312	3	2	9	1	0	0	0	0	1	0	0	0	3658	1377	48	5	855	5	COG2	1	230807312	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	44750957	230807312	18443309	6	577											
PCNXL2	80003	broad.mit.edu	37	chr1	233394169	233394169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgaagaactgtgatccTtgatggcatttcccccctcc	8	12	9	12	0	0	5	0	4	0	1	3	5	3	5	5	1	1	1	5	1	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:233394169T>C	ENST00000258229.9	-	5	1673	c.1439A>G	c.(1438-1440)aAg>aGg	p.K480R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	480						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGTGATCCTTGATGGCATT	0.542																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1438-1440)aAg>aGg		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							65	67	67					1																	233394169		1987	4162	6149	SO:0001583	missense	80003					integral to membrane		g.chr1:233394169T>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1439A>G	1.37:g.233394169T>C	ENSP00000258229:p.Lys480Arg					PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	p.K480R	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			4	1674	-		all_cancers(173;0.0347)|Prostate(94;0.137)	480					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1439A>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753707	0.31046	.	.	ENSG00000135749	ENST00000258229	T	0.08720	3.06	4.48	0.875	0.19130	.	.	.	.	.	T	0.04770	0.0129	N	0.19112	0.55	0.18873	N	0.999989	B	0.06786	0.001	B	0.04013	0.001	T	0.40979	-0.9534	9	0.54805	T	0.06	.	1.9302	0.03325	0.1394:0.1235:0.1445:0.5926	.	480	A6NKB5	PCX2_HUMAN	R	480	ENSP00000258229:K480R	ENSP00000258229:K480R	K	-	2	0	PCNXL2	231460792	0.083000	0.21467	0.000000	0.03702	0.157000	0.22087	2.018000	0.40991	-0.014000	0.14175	0.533000	0.62120	AAG		0.542	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		C	233394169	T	C	233394169	3	2	9	1	0	0	0	0	1	0	0	0	11592	1609	56	4	5094	4	PCNXL2	1	233394169	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	2586857	233394169	15856452	7	578											
C2orf16	84226	broad.mit.edu	37	chr2	27801373	27801373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcttcaagaactgatagTacctgcagaattaactccaa	16	10	5	10	0	2	3	1	1	1	2	3	3	3	3	2	0	4	2	2	0	7	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:27801373T>C	ENST00000408964.2	+	1	1985	c.1934T>C	c.(1933-1935)gTa>gCa	p.V645A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	645						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAACTGATAGTACCTGCAGAA	0.403																																						uc002rkz.4																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(1933-1935)gTa>gCa		Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.							95	92	93					2																	27801373		1872	4122	5994	SO:0001583	missense	84226							g.chr2:27801373T>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1934T>C	2.37:g.27801373T>C	ENSP00000386190:p.Val645Ala						p.V645A	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			0	1985	+	Acute lymphoblastic leukemia(172;0.155)		645					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1934T>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	3.114	-0.181922	0.06340	.	.	ENSG00000221843	ENST00000408964	T	0.04758	3.56	4.69	3.52	0.40303	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.16289	0.015	T	0.47497	-0.9113	9	0.23891	T	0.37	.	7.4798	0.27398	0.7976:0.0:0.0:0.2024	.	645	Q68DN1	CB016_HUMAN	A	645	ENSP00000386190:V645A	ENSP00000386190:V645A	V	+	2	0	C2orf16	27654877	0.001000	0.12720	0.062000	0.19696	0.091000	0.18340	0.229000	0.17833	0.906000	0.36621	-0.527000	0.04329	GTA		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		C	27801373	T	C	27801373	3	2	9	1	0	0	0	0	1	0	0	0	2157	1638	57	4	1936	4	C2orf16	2	27801373	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08		27801373	215398000	8	579											
SLC9A4	389015	broad.mit.edu	37	chr2	103149074	103149074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttggttgaggttcggtCgaggtggacagctgaccatg	6	12	15	8	2	1	2	0	2	1	0	3	4	1	3	1	5	1	3	1	5	0	3	rs199784614		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:103149074C>T	ENST00000295269.4	+	12	2781	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	775					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGGTTCGGTCGAGGTGGACA	0.517																																						uc002tbz.4																			0		p.R774W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2323-2325)tCg>tTg		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.							81	50	61					2																	103149074		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149074C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2324C>T	2.37:g.103149074C>T	ENSP00000295269:p.Ser775Leu						p.S775L	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			11	2781	+			775					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2324C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222554	0.39300	.	.	ENSG00000180251	ENST00000295269	T	0.44881	0.91	5.31	5.31	0.75309	.	0.432897	0.24970	N	0.034150	T	0.28863	0.0716	L	0.29908	0.895	0.09310	N	1	B	0.28208	0.203	B	0.17098	0.017	T	0.13845	-1.0494	10	0.39692	T	0.17	.	10.3858	0.44138	0.0:0.9098:0.0:0.0902	.	775	Q6AI14	SL9A4_HUMAN	L	775	ENSP00000295269:S775L	ENSP00000295269:S775L	S	+	2	0	SLC9A4	102515506	0.007000	0.16637	0.019000	0.16419	0.063000	0.16089	0.973000	0.29422	2.642000	0.89623	0.655000	0.94253	TCG		0.517	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103149074	C	T	103149074	3	4	9	1	0	0	0	0	1	0	0	0	14716	893	31	2	2370	2	SLC9A4	2	103149074	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	75347701	103149074	140050299	9	580											
LRP2	4036	broad.mit.edu	37	chr2	169985569	169985569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtagtttgtttagattttCgtttgaagagattccatttt	8	21	9	3	1	0	3	0	1	0	2	2	4	1	3	1	1	0	4	1	1	3	10			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:169985569C>T	ENST00000263816.3	-	78	14039	c.13754G>A	c.(13753-13755)cGa>cAa	p.R4585Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4585					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTAGATTTTCGTTTGAAGAG	0.313																																						uc002ues.3																			0		p.R4585*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(13753-13755)cGa>cAa		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						122	134	130					2																	169985569		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169985569C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13754G>A	2.37:g.169985569C>T	ENSP00000263816:p.Arg4585Gln						p.R4585Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	77	13967	-			4585					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13754G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161238	0.78226	.	.	ENSG00000081479	ENST00000263816	D	0.90563	-2.69	5.75	5.75	0.90469	.	0.108636	0.64402	D	0.000016	D	0.88474	0.6446	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.54499	0.754	D	0.88246	0.2913	10	0.59425	D	0.04	.	9.5225	0.39145	0.1446:0.7808:0.0:0.0745	.	4585	P98164	LRP2_HUMAN	Q	4585	ENSP00000263816:R4585Q	ENSP00000263816:R4585Q	R	-	2	0	LRP2	169693815	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.123000	0.64703	2.701000	0.92244	0.557000	0.71058	CGA		0.313	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	169985569	C	T	169985569	3	4	9	1	0	0	0	0	1	0	0	0	8956	884	31	2	221	2	LRP2	2	169985569	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	66836495	169985569	73213804	10	581											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3	rs373153121		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49207-49209)Gtg>Atg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151	150	151		29716,49207,30091,30292	5.2	1	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	p.V16403M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	49432	-			17330			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49207G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179463526	C	T	179463526	3	4	9	1	0	0	0	0	1	0	0	0	16732	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	9477957	179463526	63735847	11	582											
PID1	55022	broad.mit.edu	37	chr2	229890703	229890703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggatttccaggagggcaTtggccggaaagacatcctct	9	8	13	11	2	1	1	0	0	1	1	3	4	3	4	4	5	0	1	4	5	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:229890703T>C	ENST00000354069.6	-	3	428	c.398A>G	c.(397-399)aAt>aGt	p.N133S	PID1_ENST00000392054.3_Missense_Mutation_p.N131S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.N100S|PID1_ENST00000409462.1_Missense_Mutation_p.N51S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	133	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAGGAGGGCATTGGCCGGAAA	0.557																																						uc002vpr.4																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(397-399)aAt>aGt		Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.							95	91	93					2																	229890703		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890703T>C	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.398A>G	2.37:g.229890703T>C	ENSP00000283937:p.Asn133Ser					PID1_uc002vps.4_Missense_Mutation_p.N131S|PID1_uc002vpt.4_Missense_Mutation_p.N100S|PID1_uc002vpu.4_Missense_Mutation_p.N51S	p.N133S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	2	436	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	133			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.398A>G		.	.	.	.	.	.	.	.	.	.	T	15.55	2.867916	0.51588	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.044427	0.85682	D	0.000000	T	0.40448	0.1117	L	0.36672	1.1	0.51233	D	0.999915	B;B;P;P	0.42827	0.058;0.021;0.791;0.63	B;B;B;B	0.34873	0.058;0.034;0.187;0.191	T	0.30822	-0.9965	8	.	.	.	-42.8993	14.8992	0.70666	0.0:0.0:0.0:1.0	.	51;100;131;133	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	S	131;51;100;133;133	.	.	N	-	2	0	PID1	229598947	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.471000	0.60182	2.174000	0.68829	0.533000	0.62120	AAT		0.557	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		C	229890703	T	C	229890703	3	2	9	1	0	0	0	0	1	0	0	0	11882	1493	52	4	358	4	PID1	2	229890703	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	50427177	229890703	13308670	12	583											
COL6A3	1293	broad.mit.edu	37	chr2	238285526	238285526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaacgctggagacagcaCgatctgctctaactcagcag	13	7	10	11	2	3	1	1	0	2	1	3	4	3	1	0	1	5	4	0	1	3	2	rs140437593	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:238285526C>T	ENST00000295550.4	-	7	3411	c.2959G>A	c.(2959-2961)Gtg>Atg	p.V987M	COL6A3_ENST00000392003.2_Missense_Mutation_p.V580M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V380M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V786M|COL6A3_ENST00000392004.3_Missense_Mutation_p.V781M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V781M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V781M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V787M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	987	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGACAGCACGATCTGCTCT	0.512																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2959-2961)Gtg>Atg		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	211	193	199		2959,1738,2341,1138,2341	5.6	0	2	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	21,21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	987/3178,580/1037,781/1238,380/2571,781/2972	238285526	2,13004	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285526C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2959G>A	2.37:g.238285526C>T	ENSP00000295550:p.Val987Met					COL6A3_uc002vwo.2_Missense_Mutation_p.V781M|COL6A3_uc010znj.1_Missense_Mutation_p.V380M|COL6A3_uc002vwq.3_Missense_Mutation_p.V781M|COL6A3_uc002vwr.3_Missense_Mutation_p.V580M|COL6A3_uc010znk.1_Missense_Mutation_p.V787M	p.V987M	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	3244	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	987			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2959G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486316	0.44147	0.0	2.33E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.278487	0.25071	N	0.033377	D	0.90349	0.6980	M	0.68593	2.085	0.24748	N	0.992998	D;D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0;0.993	P;D;D;D;D;P	0.83275	0.751;0.996;0.976;0.993;0.993;0.751	D	0.84330	0.0521	10	0.59425	D	0.04	.	17.677	0.88233	0.0:1.0:0.0:0.0	.	787;380;580;781;781;987	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	987;786;781;380;781;787;781;580	ENSP00000295550:V987M;ENSP00000315609:V786M;ENSP00000315873:V781M;ENSP00000418285:V380M;ENSP00000386844:V781M;ENSP00000295546:V787M;ENSP00000375861:V781M;ENSP00000375860:V580M	ENSP00000295550:V987M	V	-	1	0	COL6A3	237950265	0.775000	0.28604	0.043000	0.18650	0.155000	0.21991	2.442000	0.44873	2.610000	0.88304	0.655000	0.94253	GTG		0.512	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238285526	C	T	238285526	3	4	9	1	0	0	0	0	1	0	0	0	3701	536	19	1	6773	1	COL6A3	2	238285526	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	8394823	238285526	4913847	13	584											
CACNA1D	776	broad.mit.edu	37	chr3	53769408	53769408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttccctgcaggatccgcGtaggctgccacaagctcatc	7	10	9	15	2	1	0	1	0	0	0	4	1	3	1	3	2	3	4	3	2	2	3	rs564937293	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:53769408G>A	ENST00000350061.5	+	20	3140	c.2629G>A	c.(2629-2631)Gta>Ata	p.V877I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V877I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V897I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	877					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGATCCGCGTAGGCTGCCA	0.587													G|||	2	0.000399361	0	0	5008	,	,		19911	0.002		0	False		,,,				2504	0					uc003dgv.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2629-2631)Gta>Ata		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	Verapamil(DB00661)						141	122	128					3																	53769408		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769408G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2629G>A	3.37:g.53769408G>A	ENSP00000288133:p.Val877Ile					CACNA1D_uc003dgu.4_Missense_Mutation_p.V897I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V877I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V544I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V25I	p.V877I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	2792	+			877					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2629G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458555	0.63401	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96073	-3.88;-3.9;-3.9;-3.89	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.96420	0.8832	L	0.49571	1.57	0.80722	D	1	D;P;P;D	0.76494	0.997;0.594;0.594;0.999	P;B;B;P	0.62491	0.733;0.116;0.06;0.903	D	0.94869	0.8028	10	0.27785	T	0.31	.	19.6821	0.95969	0.0:0.0:1.0:0.0	.	877;570;877;897	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	877;897;877;570	ENSP00000288133:V877I;ENSP00000288139:V897I;ENSP00000409174:V877I;ENSP00000418014:V570I	ENSP00000288139:V897I	V	+	1	0	CACNA1D	53744448	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.789000	0.99068	2.719000	0.93026	0.555000	0.69702	GTA		0.587	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		A	53769408	G	A	53769408	3	1	9	1	0	0	0	0	1	0	0	0	2541	1145	40	1	2879	1	CACNA1D	3	53769408	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		53769408	144253022	14	585											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		899	Substitution - Missense(899)	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	9	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	125166683	178936091	19086339	15	586											
CSN2	1447	broad.mit.edu	37	chr4	70823297	70823297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatttgagggtcaaaaaaggGtatcgttggagatttaagga	14	11	14	2	1	1	2	1	1	0	1	2	5	1	3	0	4	0	2	0	4	5	5	rs375072668		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:70823297G>T	ENST00000353151.3	-	5	381	c.370C>A	c.(370-372)Ccc>Acc	p.P124T		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAAAAAAGGGTATCGTTGGA	0.483																																						uc003hes.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(370-372)Ccc>Acc		Homo sapiens casein beta (CSN2), mRNA.							109	112	111					4																	70823297		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823297G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.370C>A	4.37:g.70823297G>T	ENSP00000341030:p.Pro124Thr					CSN2_uc003het.4_Missense_Mutation_p.P123T	p.P124T	NM_001891	NP_001882	P05814	CASB_HUMAN			4	383	-			124					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.370C>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858663	0.32791	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.05	-0.845	0.10737	.	0.434716	0.19949	N	0.102464	T	0.25606	0.0623	M	0.67700	2.07	0.09310	N	1	P	0.43750	0.816	B	0.37144	0.242	T	0.26985	-1.0087	9	0.72032	D	0.01	-1.5483	0.5635	0.00683	0.3101:0.173:0.3393:0.1776	.	124	P05814	CASB_HUMAN	T	124	.	ENSP00000341030:P124T	P	-	1	0	CSN2	70857886	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.036000	0.12185	-0.224000	0.09928	-0.142000	0.14014	CCC		0.483	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			T	70823297	G	T	70823297	3	4	9	1	0	0	0	0	1	0	0	0	3948	1261	44	5	318	5	CSN2	4	70823297	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		70823297	120330979	16	587											
KIAA1109	84162	broad.mit.edu	37	chr4	123200986	123200986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctacagtgcccaaagagGgctgaagacaaacaatgctg	14	6	10	11	0	1	3	0	1	1	2	1	3	1	3	2	1	4	2	2	1	5	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:123200986G>T	ENST00000264501.4	+	51	9021	c.8648G>T	c.(8647-8649)gGg>gTg	p.G2883V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.G2883V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G2883V			Q2LD37	K1109_HUMAN	KIAA1109	2883					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCCAAAGAGGGCTGAAGACA	0.433																																						uc003ieh.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8647-8649)gGg>gTg		Homo sapiens KIAA1109 (KIAA1109), mRNA.							111	109	109					4																	123200986		1955	4151	6106	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123200986G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8648G>T	4.37:g.123200986G>T	ENSP00000264501:p.Gly2883Val					KIAA1109_uc003iel.1_Missense_Mutation_p.G818V	p.G2883V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			48	8693	+			2883					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8648G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.787937|4.787937	0.90367|0.90367	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|T	0.24151|0.51574	2.46;2.46;1.87|0.7	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62962|0.62962	0.2471|0.2471	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.63274|0.63274	-0.6674|-0.6674	10|7	0.51188|0.72032	T|D	0.08|0.01	.|.	19.779|19.779	0.96410|0.96410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2883;2883|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	V|S	2883|840	ENSP00000264501:G2883V;ENSP00000373390:G2883V;ENSP00000389925:G2883V|ENSP00000393219:R840S	ENSP00000264501:G2883V|ENSP00000393219:R840S	G|R	+|+	2|3	0|2	KIAA1109|KIAA1109	123420436|123420436	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.969000|0.969000	0.65631|0.65631	9.685000|9.685000	0.98661|0.98661	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123200986	G	T	123200986	3	4	9	1	0	0	0	0	1	0	0	0	8208	1232	43	5	8842	5	KIAA1109	4	123200986	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	52377689	123200986	67953290	17	588											
ADAMTS16	170690	broad.mit.edu	37	chr5	5262847	5262847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcaatcccaagacaCgacctgtcacggggctggtg	8	8	11	14	2	2	1	1	0	1	1	3	2	3	1	3	3	1	2	3	3	2	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:5262847C>T	ENST00000274181.7	+	18	2878	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCCAAGACACGACCTGTCAC	0.512																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2740-2742)Cga>Tga		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							96	100	99					5																	5262847		2000	4156	6156	SO:0001587	stop_gained	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262847C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2740C>T	5.37:g.5262847C>T	ENSP00000274181:p.Arg914*					ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R914*	p.R914*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2878	+			914			TSP type-1 2.		C6G490|Q8IVE2	Nonsense_Mutation	SNP	ENST00000274181.7	37	c.2740C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.268291	0.98735	.	.	ENSG00000145536	ENST00000274181	.	.	.	5.09	5.09	0.68999	.	0.072733	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	15.988	0.80176	0.0:1.0:0.0:0.0	.	.	.	.	X	914	.	ENSP00000274181:R914X	R	+	1	2	ADAMTS16	5315847	0.977000	0.34250	0.120000	0.21714	0.542000	0.35054	2.443000	0.44881	2.370000	0.80446	0.561000	0.74099	CGA		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5262847	C	T	5262847	4	4	9	1	0	0	0	0	0	1	0	0	261	528	19	1	2810	1	ADAMTS16	5	5262847	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		5262847	175652413	18	589											
PCDHB15	56121	broad.mit.edu	37	chr5	140627258	140627258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgctcttcctcttctcGgtgttcctgttcgtggcagt	1	18	9	13	3	4	0	0	0	4	0	9	0	6	0	2	2	0	4	2	2	0	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:140627258G>A	ENST00000231173.3	+	1	2112	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGTTCCTGT	0.682																																						uc003lje.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2110-2112)tcG>tcA		Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.							107	112	110					5																	140627258		2203	4296	6499	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627258G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2112G>A	5.37:g.140627258G>A							p.S704S	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2112	+			704					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2112G>A	CCDS4257.1																																																																																				0.682	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		A	140627258	G	A	140627258	2	1	9	1	0	0	0	0	0	0	0	1	11540	1103	39	2		2	PCDHB15	5	140627258	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	135364411	140627258	40288002	19	590											
KCTD16	57528	broad.mit.edu	37	chr5	143586570	143586570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggtggtcctgcctgAtcactttccagaaaaaggaa	12	8	11	10	0	1	2	1	1	0	1	3	3	3	3	3	4	1	1	3	4	3	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:143586570A>T	ENST00000507359.3	+	2	1384	c.293A>T	c.(292-294)gAt>gTt	p.D98V	KCTD16_ENST00000512467.1_Missense_Mutation_p.D98V	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	98	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTCCTGCCTGATCACTTTCCA	0.478																																						uc003lnm.1																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(292-294)gAt>gTt		Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.							46	48	47					5																	143586570		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586570A>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.293A>T	5.37:g.143586570A>T	ENSP00000426548:p.Asp98Val					KCTD16_uc003lnn.1_Missense_Mutation_p.D98V	p.D98V	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	922	+		all_hematologic(541;0.118)	98			BTB.		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.293A>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862644	0.71949	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44881	0.91;0.91	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71639	-0.4532	10	0.66056	D	0.02	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	98	Q68DU8	KCD16_HUMAN	V	98	ENSP00000424151:D98V;ENSP00000426548:D98V	ENSP00000426548:D98V	D	+	2	0	KCTD16	143566763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.271000	0.75665	0.459000	0.35465	GAT		0.478	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		T	143586570	A	T	143586570	3	4	9	1	0	0	0	0	1	0	0	0	8103	333	12	5	295	5	KCTD16	5	143586570	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	2959312	143586570	37328690	20	591											
OR12D2	26529	broad.mit.edu	37	chr6	29364556	29364556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagccttttctcttcgTggttttcctcaccatctact	5	17	5	14	1	3	0	1	0	2	0	6	0	4	0	3	1	3	2	3	1	1	6			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29364556T>C	ENST00000383555.2	+	1	141	c.80T>C	c.(79-81)gTg>gCg	p.V27A	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTCTCTTCGTGGTTTTCCTC	0.438																																						uc003nmf.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(79-81)gTg>gCg		Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.							166	187	179					6																	29364556		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364556T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.80T>C	6.37:g.29364556T>C	ENSP00000373047:p.Val27Ala						p.V27A	NM_013936	NP_039224	P58182	O12D2_HUMAN			0	141	+			27					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.80T>C	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	T	7.259	0.604759	0.14002	.	.	ENSG00000168787	ENST00000383555	T	0.00460	7.27	4.07	-1.59	0.08453	.	0.861531	0.09978	N	0.731348	T	0.00073	0.0002	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.05550	-1.0878	10	0.17369	T	0.5	.	5.1835	0.15173	0.0:0.3273:0.2794:0.3933	.	27	P58182	O12D2_HUMAN	A	27	ENSP00000373047:V27A	ENSP00000373047:V27A	V	+	2	0	OR12D2	29472535	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.081000	0.01367	-0.162000	0.10964	-0.684000	0.03749	GTG		0.438	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			C	29364556	T	C	29364556	3	2	9	1	0	0	0	0	1	0	0	0	10931	1696	59	4	82	4	OR12D2	6	29364556	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08		29364556	141750511	21	592											
UBD	10537	broad.mit.edu	37	chr6	29523710	29523710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttgccctttctgatgcCgtaatctgccatcatcttcc	7	15	6	13	1	4	1	1	1	3	0	5	1	5	1	4	0	3	2	4	0	2	5	rs544222490	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29523710C>T	ENST00000377050.4	-	2	668	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	149	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTGATGCCGTAATCTGCC	0.473													C|||	5	0.000998403	8e-04	0	5008	,	,		21205	0		0	False		,,,				2504	0.0041					uc003nmo.3																			0				kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(445-447)Ggc>Agc		Homo sapiens ubiquitin D (UBD), mRNA.							157	142	147					6																	29523710		1510	2709	4219	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523710C>T	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.445G>A	6.37:g.29523710C>T	ENSP00000366249:p.Gly149Ser					GABBR1_uc003nmp.4_3'UTR	p.G149S	NM_006398	NP_006389	O15205	UBD_HUMAN			1	669	-			149			Ubiquitin 2.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.445G>A	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049972	0.36181	.	.	ENSG00000213886	ENST00000377050	T	0.16897	2.31	5.32	-7.36	0.01417	Ubiquitin supergroup (1);Ubiquitin (2);	1.018710	0.07903	U	0.973037	T	0.03959	0.0111	L	0.46947	1.48	0.09310	N	1	B	0.18310	0.027	B	0.10450	0.005	T	0.46830	-0.9163	10	0.72032	D	0.01	-8.559	4.8655	0.13606	0.0987:0.2483:0.0976:0.5554	.	149	O15205	UBD_HUMAN	S	149	ENSP00000366249:G149S	ENSP00000366249:G149S	G	-	1	0	UBD	29631689	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.918000	0.04021	-1.303000	0.02332	-0.908000	0.02827	GGC		0.473	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			T	29523710	C	T	29523710	3	4	9	1	0	0	0	0	1	0	0	0	16840	652	23	2	56	2	UBD	6	29523710	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	159154	29523710	141591357	22	593											
COL12A1	1303	broad.mit.edu	37	chr6	75840567	75840567	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaggatttctgcctcaCgcgttcggccctgggcaggg	7	8	15	11	3	2	1	1	0	1	1	3	3	2	2	2	4	1	2	2	4	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:75840567C>T	ENST00000322507.8	-	36	6377		c.e36+1		COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000345356.6_Splice_Site	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTGCCTCACGCGTTCGGCC	0.562																																						uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.e35+1		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							69	70	69					6																	75840567		1993	4169	6162	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840567C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6067+1G>A	6.37:g.75840567C>T						COL12A1_uc021zbw.1_Splice_Site_p.L859_splice|COL12A1_uc003phs.3_Splice_Site_p.L2023_splice|COL12A1_uc003pht.3_Splice_Site_p.L859_splice	p.L2023_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN			35	6102	-			2023					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.6067_splice	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609254	0.87258	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	5.6	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5548	0.68094	0.0:0.9298:0.0:0.0702	.	.	.	.	.	-1	.	.	.	-	.	.	COL12A1	75897287	1.000000	0.71417	0.925000	0.36789	0.984000	0.73092	6.321000	0.72881	1.368000	0.46115	0.655000	0.94253	.		0.562	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Intron	T	75840567	C	T	75840567	5	4	9	1	0	0	0	0	0	0	1	0	3669	550	19	1	3247	1	COL12A1	6	75840567	Splice_Site	SNP	C	TCGA-06-0119-01A-08D-1490-08	46316857	75840567	95274500	23	594											
THEMIS	387357	broad.mit.edu	37	chr6	128134889	128134889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttcccaggctgtaaaatGctttggggcaggtggtttcc	6	14	13	8	0	0	0	0	0	0	0	2	0	2	0	2	5	1	6	2	5	2	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:128134889G>A	ENST00000368248.2	-	4	1045	c.897C>T	c.(895-897)agC>agT	p.S299S	THEMIS_ENST00000368250.1_Silent_p.S220S|THEMIS_ENST00000537166.1_Silent_p.S264S|THEMIS_ENST00000543064.1_Silent_p.S299S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	299	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTGTAAAATGCTTTGGGGCA	0.393																																						uc011ebt.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(895-897)agC>agT		Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.							114	120	118					6																	128134889		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134889G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.897C>T	6.37:g.128134889G>A						THEMIS_uc010kfa.3_Silent_p.S202S|THEMIS_uc021zfa.1_Silent_p.S299S|THEMIS_uc010kfb.3_Silent_p.S264S	p.S299S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN			3	1046	-			299			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.897C>T	CCDS34534.1																																																																																				0.393	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		A	128134889	G	A	128134889	2	1	9	1	0	0	0	0	0	0	0	1	15857	1310	46	3		3	THEMIS	6	128134889	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	52294322	128134889	42980178	24	595											
GPR126	57211	broad.mit.edu	37	chr6	142736934	142736934	+	Splice_Site	DEL	A	A	-																															tccttttttcattttttaggAaattgcgaagggattatccc																										TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:142736934delA	ENST00000230173.6	+	20	3147	c.2671delA	c.(2671-2673)aaa>aa	p.K891fs	GPR126_ENST00000367608.2_Splice_Site_p.K863fs|GPR126_ENST00000367609.3_Splice_Site_p.K891fs|GPR126_ENST00000296932.8_Splice_Site_p.K863fs	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	891					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTTTTTAGGAAATTGCGAAG	0.398																																						uc010khe.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.e20-1		Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.							63	60	61					6																	142736934		1825	4094	5919	SO:0001630	splice_region_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736934delA	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2670-1A>-	6.37:g.142736934delA						GPR126_uc010khc.3_Splice_Site_p.E890_splice|GPR126_uc010khd.3_Splice_Site_p.E862_splice|GPR126_uc010khf.3_Splice_Site_p.E862_splice	p.E890_splice	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3081	+	Breast(32;0.176)		890					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Frame_Shift_Del	DEL	ENST00000230173.6	37	c.2670_splice	CCDS47490.1																																																																																				0.398	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		Frame_Shift_Del	-	142736934	A	-	142736934	8	5	9	1	0	1	0	1	0	0	1	0	6640	260	9	0	2749	0	GPR126	6	142736934	Splice_Site	DEL	A	TCGA-06-0119-01A-08D-1490-08	14602045	142736934	28378133	25	596											
SEMA3E	9723	broad.mit.edu	37	chr7	83016344	83016344	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctgcatttccatgtcGaacatcttgtctccggaaac	9	12	8	12	2	2	1	0	1	2	0	5	3	3	2	2	1	4	2	2	1	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:83016344G>A	ENST00000307792.3	-	15	2157	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R504*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	564					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTCCATGTCGAACATCTTGT	0.363																																						uc003uhy.2																			0		p.R564Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1690-1692)Cga>Tga		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							88	75	80					7																	83016344		2203	4300	6503	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83016344G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1690C>T	7.37:g.83016344G>A	ENSP00000303212:p.Arg564*					SEMA3E_uc022agy.1_Nonsense_Mutation_p.R504*	p.R564*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			14	2311	-		Medulloblastoma(109;0.109)	564					B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.1690C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	39	7.713273	0.98447	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	.	.	.	X	564;504;564	.	ENSP00000303212:R564X	R	-	1	2	SEMA3E	82854280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.438000	0.66550	2.653000	0.90120	0.650000	0.86243	CGA		0.363	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	83016344	G	A	83016344	4	1	9	1	0	0	0	0	0	1	0	0	14028	1066	37	2	649	2	SEMA3E	7	83016344	Nonsense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		83016344	76122319	26	597											
COL1A2	1278	broad.mit.edu	37	chr7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggcttcgctggtgagaagGgtccctctggagaggctggt	5	10	17	9	1	1	2	0	1	1	2	3	4	2	2	1	6	0	3	1	6	1	1	rs72658196		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:94052404G>A	ENST00000297268.6	+	40	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	847			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G847S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.G847S(2)	lung(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CM070816	COL1A2	M	rs72658196	c.(2539-2541)Ggt>Agt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						128	120	123					7																	94052404		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052404G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2539G>A	7.37:g.94052404G>A	ENSP00000297268:p.Gly847Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.G847S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		39	3010	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		847		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2539G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740412	0.89573	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99607	-6.27	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96766	0.9565	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	847	P08123	CO1A2_HUMAN	S	847;848	ENSP00000297268:G847S	ENSP00000297268:G847S	G	+	1	0	COL1A2	93890340	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.869000	0.99810	2.614000	0.88457	0.563000	0.77884	GGT		0.502	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94052404	G	A	94052404	3	1	9	1	0	0	0	0	1	0	0	0	3678	1232	43	3	2697	3	COL1A2	7	94052404	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	11036060	94052404	65086259	27	598											
TRIM4	89122	broad.mit.edu	37	chr7	99516919	99516919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccagttgcggtgcaGgcagccgcggcagaagttgt	6	6	17	12	5	0	1	0	0	0	1	0	1	0	1	2	4	3	5	2	4	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:99516919G>T	ENST00000355947.2	-	1	235	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	TRIM4_ENST00000354241.5_Missense_Mutation_p.L36M|TRIM4_ENST00000349062.2_Missense_Mutation_p.L36M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	36					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TTGCGGTGCAGGCAGCCGCGG	0.701																																						uc003usd.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(106-108)Ctg>Atg		Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.							5	5	5					7																	99516919		1997	3935	5932	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99516919G>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.106C>A	7.37:g.99516919G>T	ENSP00000348216:p.Leu36Met					TRIM4_uc003use.3_Missense_Mutation_p.L36M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.L36M	p.L36M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			0	305	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	36					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.106C>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043638	0.36085	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000354241	T;T;T	0.09445	2.98;2.98;2.98	2.29	-2.1	0.07210	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.28067	0.0692	M	0.88377	2.95	0.22226	N	0.999273	D;P;P	0.76494	0.999;0.865;0.889	D;P;P	0.71656	0.974;0.529;0.66	T	0.17623	-1.0363	8	.	.	.	.	0.9087	0.01290	0.2362:0.3177:0.2792:0.1669	.	36;36;36	Q9C037-3;Q9C037-2;Q9C037	.;.;TRIM4_HUMAN	M	36	ENSP00000348216:L36M;ENSP00000275736:L36M;ENSP00000346186:L36M	.	L	-	1	2	TRIM4	99354855	1.000000	0.71417	0.115000	0.21578	0.253000	0.25986	1.393000	0.34497	-0.607000	0.05738	-1.008000	0.02478	CTG		0.701	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		T	99516919	G	T	99516919	3	4	9	1	0	0	0	0	1	0	0	0	16511	991	35	5	1424	5	TRIM4	7	99516919	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	5464515	99516919	59621744	28	599											
OR2A12	346525	broad.mit.edu	37	chr7	143792582	143792582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatgtggcaatctgtcacCccttgcaatacaccctcatt	9	12	7	13	0	3	0	2	0	1	0	3	0	3	0	3	2	2	3	3	2	4	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:143792582C>A	ENST00000408949.2	+	1	442	c.382C>A	c.(382-384)Ccc>Acc	p.P128T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AATCTGTCACCCCTTGCAATA	0.433																																						uc011kty.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(382-384)Ccc>Acc		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							218	201	206					7																	143792582		2046	4215	6261	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792582C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.382C>A	7.37:g.143792582C>A	ENSP00000386174:p.Pro128Thr						p.P128T	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	382	+	Melanoma(164;0.0783)		128					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.382C>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289466	0.40494	.	.	ENSG00000221858	ENST00000408949	T	0.01887	4.58	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25344	0.0616	H	0.99464	4.58	0.45307	D	0.998307	D	0.67145	0.996	D	0.70716	0.97	T	0.53788	-0.8389	9	0.87932	D	0	-25.8557	14.1199	0.65180	0.0:1.0:0.0:0.0	.	128	Q8NGT7	O2A12_HUMAN	T	128	ENSP00000386174:P128T	ENSP00000386174:P128T	P	+	1	0	OR2A12	143423515	1.000000	0.71417	0.309000	0.25155	0.004000	0.04260	5.748000	0.68697	2.182000	0.69389	0.505000	0.49811	CCC		0.433	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			A	143792582	C	A	143792582	3	1	9	1	0	0	0	0	1	0	0	0	10975	623	22	5	384	5	OR2A12	7	143792582	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	44275663	143792582	15346081	29	600											
PTK2B	2185	broad.mit.edu	37	chr8	27301729	27301729	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctctctccagcccagcCgacctaagtacagaccccct	8	9	6	18	1	2	1	0	0	2	1	4	2	2	1	6	0	3	2	6	0	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:27301729C>T	ENST00000397501.1	+	28	2963	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	PTK2B_ENST00000517339.1_Nonsense_Mutation_p.R719*|PTK2B_ENST00000338238.4_Nonsense_Mutation_p.R719*|PTK2B_ENST00000346049.5_Nonsense_Mutation_p.R719*|PTK2B_ENST00000420218.2_Nonsense_Mutation_p.R719*|PTK2B_ENST00000397497.4_Nonsense_Mutation_p.R465*|PTK2B_ENST00000544172.1_Nonsense_Mutation_p.R719*	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	719	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CCAGCCCAGCCGACCTAAGTA	0.542																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2155-2157)Cga>Tga		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							128	114	119					8																	27301729		2203	4300	6503	SO:0001587	stop_gained	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27301729C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2155C>T	8.37:g.27301729C>T	ENSP00000380638:p.Arg719*					PTK2B_uc022ate.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfp.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfq.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfr.1_Nonsense_Mutation_p.R465*	p.R719*	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	27	2963	+		Ovarian(32;2.72e-05)	719			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Nonsense_Mutation	SNP	ENST00000397501.1	37	c.2155C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	45	11.791622	0.99603	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	.	.	.	5.13	3.33	0.38152	.	0.047558	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.037	0.30499	0.1585:0.7578:0.0:0.0836	.	.	.	.	X	719;724;719;719;719;719;719;465	.	ENSP00000342242:R719X	R	+	1	2	PTK2B	27357646	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.203000	0.32284	0.730000	0.32425	0.655000	0.94253	CGA		0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		T	27301729	C	T	27301729	4	4	9	1	0	0	0	0	0	1	0	0	12763	644	23	2	2241	2	PTK2B	8	27301729	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		27301729	119062293	30	601											
FAM164A	51101	broad.mit.edu	37	chr8	79590915	79590915	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaaacctctcaaaccgaggGtaactatataaccttttgaa	16	11	5	9	1	1	1	1	1	1	0	2	2	1	1	3	1	4	1	3	1	8	7			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:79590915G>A	ENST00000263849.4	+	3	312		c.e3+1		ZC2HC1A_ENST00000521176.1_Splice_Site	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A								metal ion binding (GO:0046872)										CAAACCGAGGGTAACTATATA	0.333																																						uc003ybd.3																			0											c.e3+1		Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.							96	99	98					8																	79590915		2203	4300	6503	SO:0001630	splice_region_variant	51101							g.chr8:79590915G>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.210+1G>A	8.37:g.79590915G>A							p.R70_splice	NM_016010	NP_057094	Q96GY0	F164A_HUMAN			3	312	+			70					Q9Y372	Splice_Site	SNP	ENST00000263849.4	37	c.210_splice	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152345	0.78001	.	.	ENSG00000104427	ENST00000263849	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM164A	79753470	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.102000	0.94226	2.788000	0.95919	0.585000	0.79938	.		0.333	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010	Intron	A	79590915	G	A	79590915	5	1	9	1	0	0	0	0	0	0	1	0	5478	1275	44	3	221	3	FAM164A	8	79590915	Splice_Site	SNP	G	TCGA-06-0119-01A-08D-1490-08	52289186	79590915	66773107	31	602											
RAD54B	25788	broad.mit.edu	37	chr8	95403893	95403893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttttttaagagctcctaTacatattagatggggactat	12	15	8	6	0	0	2	0	0	0	2	1	3	1	3	1	2	2	2	1	2	6	8			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:95403893T>A	ENST00000336148.5	-	10	1877	c.1753A>T	c.(1753-1755)Ata>Tta	p.I585L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	585					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAGCTCCTATACATATTAGA	0.408								Direct reversal of damage;Homologous recombination																														uc003ygk.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1753-1755)Ata>Tta	Direct reversal of damage;Homologous recombination	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.							118	119	118					8																	95403893		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403893T>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1753A>T	8.37:g.95403893T>A	ENSP00000336606:p.Ile585Leu					RAD54B_uc010may.2_Missense_Mutation_p.I401L|RAD54B_uc003ygl.2_Non-coding_Transcript	p.I585L	NM_012415	NP_001192192	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		9	1884	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.1753A>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	33	5.244866	0.95272	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.72835	-0.69	5.11	5.11	0.69529	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	L	0.27944	0.81	0.80722	D	1	D	0.58620	0.983	P	0.58013	0.831	T	0.74503	-0.3644	10	0.51188	T	0.08	-38.3537	15.203	0.73157	0.0:0.0:0.0:1.0	.	585	Q9Y620	RA54B_HUMAN	L	585;257	ENSP00000336606:I585L	ENSP00000336606:I585L	I	-	1	0	RAD54B	95473069	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.997000	0.88414	2.039000	0.60335	0.528000	0.53228	ATA		0.408	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		A	95403893	T	A	95403893	3	1	9	1	0	0	0	0	1	0	0	0	12992	1406	49	5	1003	5	RAD54B	8	95403893	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	15812978	95403893	50960129	32	603											
PLEC	5339	broad.mit.edu	37	chr8	144990758	144990758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgtgccgcgctgcagggCctcgtccaggggcacgcggc	4	4	16	17	6	0	0	0	0	0	0	2	0	1	0	4	4	2	3	4	4	0	0			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:144990758C>T	ENST00000322810.4	-	32	13811	c.13642G>A	c.(13642-13644)Gcc>Acc	p.A4548T	PLEC_ENST00000398774.2_Missense_Mutation_p.A4379T|PLEC_ENST00000345136.3_Missense_Mutation_p.A4411T|PLEC_ENST00000354958.2_Missense_Mutation_p.A4389T|PLEC_ENST00000356346.3_Missense_Mutation_p.A4397T|PLEC_ENST00000527096.1_Missense_Mutation_p.A4434T|PLEC_ENST00000357649.2_Missense_Mutation_p.A4415T|PLEC_ENST00000354589.3_Missense_Mutation_p.A4411T|PLEC_ENST00000436759.2_Missense_Mutation_p.A4438T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4548	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCAGGGCCTCGTCCAGG	0.682																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13642-13644)Gcc>Acc		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							32	36	35					8																	144990758		1956	4104	6060	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990758C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13642G>A	8.37:g.144990758C>T	ENSP00000323856:p.Ala4548Thr					PLEC_uc003zab.1_Missense_Mutation_p.A4411T|PLEC_uc003zac.1_Missense_Mutation_p.A4415T|PLEC_uc003zad.2_Missense_Mutation_p.A4411T|PLEC_uc003zae.1_Missense_Mutation_p.A4379T|PLEC_uc003zag.1_Missense_Mutation_p.A4389T|PLEC_uc003zah.2_Missense_Mutation_p.A4397T|PLEC_uc003zaj.2_Missense_Mutation_p.A4438T	p.A4548T	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	13812	-			4548			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13642G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.590	0.670566	0.14776	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.05	5.05	0.67936	.	0.085246	0.44483	U	0.000446	D	0.98413	0.9472	M	0.92923	3.36	0.47778	D	0.999513	D;D;D;D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.99;0.99;0.99;0.99	P;P;P;P;P;P;P;P	0.54815	0.649;0.649;0.649;0.761;0.649;0.649;0.649;0.649	D	0.99636	1.0987	10	0.87932	D	0	.	18.2089	0.89864	0.0:1.0:0.0:0.0	.	4438;4397;4389;4548;4379;4411;4415;4411	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	4411;4415;4411;4379;4548;4389;4397;4438;4434	ENSP00000344848:A4411T;ENSP00000350277:A4415T;ENSP00000346602:A4411T;ENSP00000381756:A4379T;ENSP00000323856:A4548T;ENSP00000347044:A4389T;ENSP00000348702:A4397T;ENSP00000388180:A4438T;ENSP00000434583:A4434T	ENSP00000323856:A4548T	A	-	1	0	PLEC	145062746	0.998000	0.40836	1.000000	0.80357	0.041000	0.13682	3.841000	0.55850	2.606000	0.88127	0.643000	0.83706	GCC		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144990758	C	T	144990758	3	4	9	1	0	0	0	0	1	0	0	0	12052	739	26	3	416	3	PLEC	8	144990758	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	49586865	144990758	1373264	33	604											
RMI1	80010	broad.mit.edu	37	chr9	86616796	86616796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaagaccaaaagaggaaCcatcaaacctatctatacat	18	7	4	12	0	2	2	1	0	1	2	3	3	3	3	4	1	3	0	4	1	8	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:86616796C>A	ENST00000325875.3	+	3	1227	c.895C>A	c.(895-897)Cca>Aca	p.P299T		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	299					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAAAGAGGAACCATCAAACCT	0.398																																						uc022bjb.1																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(895-897)Cca>Aca		Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.							83	81	82					9																	86616796		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86616796C>A	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.895C>A	9.37:g.86616796C>A	ENSP00000317039:p.Pro299Thr					RMI1_uc004anq.4_Missense_Mutation_p.P299T|RMI1_uc004anr.4_Missense_Mutation_p.P299T|RMI1_uc004anp.4_Missense_Mutation_p.P299T|RMI1_uc004ans.4_Missense_Mutation_p.P299T	p.P299T	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN			0	895	+			299					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.895C>A	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.687824	0.00100	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.40756	1.02;1.64	5.52	2.53	0.30540	.	0.657345	0.15620	N	0.252960	T	0.25754	0.0627	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.23190	-1.0195	10	0.08381	T	0.77	-0.5356	2.1236	0.03731	0.3065:0.429:0.1081:0.1564	.	299	Q9H9A7	RMI1_HUMAN	T	299	ENSP00000402433:P299T;ENSP00000317039:P299T	ENSP00000317039:P299T	P	+	1	0	RMI1	85806616	0.000000	0.05858	0.704000	0.30370	0.005000	0.04900	-0.015000	0.12634	0.820000	0.34516	-0.136000	0.14681	CCA		0.398	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		A	86616796	C	A	86616796	3	1	9	1	0	0	0	0	1	0	0	0	13395	507	18	5	897	5	RMI1	9	86616796	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		86616796	54596635	34	605											
LHX3	8022	broad.mit.edu	37	chr9	139092527	139092527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgagacacttgctgtgcCagtggcggtccagagccttg	7	10	13	11	1	0	2	0	1	0	2	1	3	1	2	3	2	3	1	3	2	0	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:139092527C>A	ENST00000371748.5	-	2	248	c.152G>T	c.(151-153)tGg>tTg	p.W51L	LHX3_ENST00000371746.3_Missense_Mutation_p.W56L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	51	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTTGCTGTGCCAGTGGCGGTC	0.607																																						uc004cgz.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(166-168)tGg>tTg		Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.							72	66	68					9																	139092527		2203	4300	6503	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139092527C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.152G>T	9.37:g.139092527C>A	ENSP00000360813:p.Trp51Leu					LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Missense_Mutation_p.W51L	p.W56L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	1	286	-		Myeloproliferative disorder(178;0.0511)	51			LIM zinc-binding 1.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.167G>T	CCDS6994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748188|3.748188	0.69533|0.69533	.|.	.|.	ENSG00000107187|ENSG00000107187	ENST00000325195|ENST00000371748;ENST00000371746	.|D;D	.|0.91068	.|-2.78;-2.78	4.65|4.65	4.65|4.65	0.58169|0.58169	.|Zinc finger, LIM-type (5);	.|0.073333	.|0.64402	.|D	.|0.000014	D|D	0.97520|0.97520	0.9188|0.9188	H|H	0.99582|0.99582	4.64|4.64	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.979	.|D;D	.|0.68765	.|0.96;0.942	D|D	0.99357|0.99357	1.0916|1.0916	6|10	0.87932|0.87932	D|D	0|0	.|.	16.6714|16.6714	0.85268|0.85268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|51;56	.|Q9UBR4;F1T0D9	.|LHX3_HUMAN;.	C|L	55|51;56	.|ENSP00000360813:W51L;ENSP00000360811:W56L	ENSP00000319224:G55C|ENSP00000360811:W56L	G|W	-|-	1|2	0|0	LHX3|LHX3	138232348|138232348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.033000|0.033000	0.12548|0.12548	7.405000|7.405000	0.80007|0.80007	2.424000|2.424000	0.82194|0.82194	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.607	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			A	139092527	C	A	139092527	3	1	9	1	0	0	0	0	1	0	0	0	8772	595	21	5	1061	5	LHX3	9	139092527	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	52475731	139092527	2120904	35	606											
OR56A4	120793	broad.mit.edu	37	chr11	6023660	6023660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcatcacaagagagtttgGacacagacaggttactgcag	13	9	11	8	0	2	2	2	0	0	2	2	4	2	3	0	2	2	3	0	2	2	2	rs116778909		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:6023660G>A	ENST00000330728.4	-	1	764	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S240F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGTTTGGACACAGACAG	0.443																																						uc010qzv.2																			1	Substitution - Missense(1)	p.S240F(2)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(718-720)tCc>tTc		Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.							56	55	55					11																	6023660		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023660G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.719C>T	11.37:g.6023660G>A	ENSP00000328215:p.Ser240Phe						p.S240F	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	719	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	188					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.719C>T	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838474	0.51057	.	.	ENSG00000183389	ENST00000330728	T	0.00069	8.77	3.72	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35349	U	0.003268	T	0.00328	0.0010	L	0.61036	1.89	0.27378	N	0.955494	D	0.56968	0.978	D	0.71184	0.972	T	0.40869	-0.9540	10	0.87932	D	0	.	8.2559	0.31756	0.2062:0.0:0.7938:0.0	.	188	Q8NGH8	O56A4_HUMAN	F	240	ENSP00000328215:S240F	ENSP00000328215:S240F	S	-	2	0	OR56A4	5980236	0.055000	0.20627	0.997000	0.53966	0.994000	0.84299	2.952000	0.49097	0.850000	0.35239	0.655000	0.94253	TCC		0.443	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		A	6023660	G	A	6023660	3	1	9	1	0	0	0	0	1	0	0	0	11135	1174	41	3	380	3	OR56A4	11	6023660	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		6023660	128982856	36	607											
NAT10	55226	broad.mit.edu	37	chr11	34129864	34129864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgttgtagttggggAtcgaggaaaagatcaggtat	10	14	13	4	1	2	1	1	0	1	1	4	4	2	3	0	4	0	4	0	4	4	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:34129864A>C	ENST00000257829.3	+	2	298	c.92A>C	c.(91-93)gAt>gCt	p.D31A	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Missense_Mutation_p.D31A	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	31						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GTAGTTGGGGATCGAGGAAAA	0.423																																						uc001mvk.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(91-93)gAt>gCt		Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.							124	123	123					11																	34129864		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34129864A>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.92A>C	11.37:g.34129864A>C	ENSP00000257829:p.Asp31Ala					NAT10_uc010ren.2_Intron	p.D31A	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			1	336	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	31					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.92A>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556382	0.86231	.	.	ENSG00000135372	ENST00000257829;ENST00000529523;ENST00000527971	T;T;T	0.32515	1.45;1.45;1.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.94063	3.49	0.80722	D	1	D	0.60160	0.987	D	0.68621	0.959	T	0.75952	-0.3136	10	0.87932	D	0	-18.1553	15.5789	0.76418	1.0:0.0:0.0:0.0	.	31	Q9H0A0	NAT10_HUMAN	A	31	ENSP00000257829:D31A;ENSP00000435569:D31A;ENSP00000437324:D31A	ENSP00000257829:D31A	D	+	2	0	NAT10	34086440	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	9.036000	0.93758	2.140000	0.66376	0.459000	0.35465	GAT		0.423	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		C	34129864	A	C	34129864	3	2	9	1	0	0	0	0	1	0	0	0	10174	333	12	5	94	5	NAT10	11	34129864	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	28106204	34129864	100876652	37	608											
SPRYD5	84767	broad.mit.edu	37	chr11	55653246	55653246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcctgctctgtttgccGtgctccaactctcaggagca	8	10	10	13	1	2	1	1	0	2	1	4	2	3	2	3	1	6	4	3	1	2	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:55653246G>A	ENST00000449290.2	+	2	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	114						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCTGTTTGCCGTGCTCCAACT	0.507																																						uc010rip.2																			0											c.(340-342)ccG>ccA		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							20	19	19					11																	55653246		692	1591	2283	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55653246G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.342G>A	11.37:g.55653246G>A						TRIM51_uc010riq.2_5'Flank	p.P114P	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			1	434	+			114					A6NMG2	Silent	SNP	ENST00000449290.2	37	c.342G>A																																																																																					0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55653246	G	A	55653246	2	1	9	1	0	0	0	0	0	0	0	1	15110	1132	40	1		1	SPRYD5	11	55653246	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	21523382	55653246	79353270	38	609											
OR8K3	219473	broad.mit.edu	37	chr11	56086106	56086106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctttcttgtgttcatTggtagtgaactttttattct	5	23	7	6	0	4	1	1	1	3	0	4	1	4	1	0	1	1	3	0	1	3	10			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:56086106T>G	ENST00000312711.1	+	1	324	c.324T>G	c.(322-324)atT>atG	p.I108M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGTGTTCATTGGTAGTGAAC	0.378																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(322-324)atT>atG		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							94	93	93					11																	56086106		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086106T>G	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.324T>G	11.37:g.56086106T>G	ENSP00000323555:p.Ile108Met						p.I108M	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	324	+	Esophageal squamous(21;0.00448)		108					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.324T>G	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470543	0.04445	.	.	ENSG00000181689	ENST00000312711	T	0.19669	2.13	4.56	-5.11	0.02901	GPCR, rhodopsin-like superfamily (1);	0.193733	0.36665	N	0.002465	T	0.12689	0.0308	L	0.55743	1.74	0.09310	N	1	P	0.41450	0.75	B	0.39119	0.291	T	0.13176	-1.0519	10	0.31617	T	0.26	.	3.1199	0.06387	0.1228:0.3623:0.1029:0.412	.	108	Q8NH51	OR8K3_HUMAN	M	108	ENSP00000323555:I108M	ENSP00000323555:I108M	I	+	3	3	OR8K3	55842682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.221000	0.00552	-0.619000	0.05648	-0.380000	0.06706	ATT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		G	56086106	T	G	56086106	3	3	9	1	0	0	0	0	1	0	0	0	11244	1800	63	5	326	5	OR8K3	11	56086106	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	432860	56086106	78920410	39	610											
TPCN2	219931	broad.mit.edu	37	chr11	68854047	68854047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgtctgtcatctgggtcaAcctgtttctggccctgattc	4	15	10	12	1	5	1	2	1	3	0	7	1	5	1	2	2	1	1	2	2	1	2	rs150476703		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:68854047A>G	ENST00000294309.3	+	23	2161	c.2060A>G	c.(2059-2061)aAc>aGc	p.N687S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	687					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCTGGGTCAACCTGTTTCTG	0.532													A|||	1	0.000199681	0	0	5008	,	,		16440	0		0.001	False		,,,				2504	0					uc001oos.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2059-2061)aAc>aGc		Homo sapiens two pore segment channel 2 (TPCN2), mRNA.		A	SER/ASN	0,4400		0,0,2200	248	190	210		2060	4.2	1	11	dbSNP_134	210	3,8585	3.7+/-12.6	0,3,4291	yes	missense	TPCN2	NM_139075.3	46	0,3,6491	GG,GA,AA		0.0349,0.0,0.0231	probably-damaging	687/753	68854047	3,12985	2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68854047A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2060A>G	11.37:g.68854047A>G	ENSP00000294309:p.Asn687Ser					TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Non-coding_Transcript	p.N687S	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		22	2176	+			687					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.2060A>G	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424617	0.62733	0.0	3.49E-4	ENSG00000162341	ENST00000294309	D	0.99239	-5.61	4.18	4.18	0.49190	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.98968	1.0800	10	0.48119	T	0.1	-37.307	13.2098	0.59817	1.0:0.0:0.0:0.0	.	687	Q8NHX9	TPC2_HUMAN	S	687	ENSP00000294309:N687S	ENSP00000294309:N687S	N	+	2	0	TPCN2	68610623	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.733000	0.68571	1.683000	0.51011	0.454000	0.30748	AAC		0.532	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		G	68854047	A	G	68854047	3	3	9	1	0	0	0	0	1	0	0	0	16393	43	2	4	2150	4	TPCN2	11	68854047	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	12767941	68854047	66152469	40	611											
SLCO1A2	6579	broad.mit.edu	37	chr12	21457447	21457447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtttcacccattccaCgtacaatattgcctactagg	10	12	8	11	1	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	5	7	rs148616059	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:21457447C>T	ENST00000307378.6	-	7	1223	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R166H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R168H|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.R36H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.R36H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	168					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACCCATTCCACGTACAATATT	0.348																																						uc001rer.3																			0		p.R168C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(502-504)cGt>cAt		Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	100	94	96		503,503	4.8	1	12	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	168/671,168/671	21457447	2,13004	2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21457447C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.503G>A	12.37:g.21457447C>T	ENSP00000305974:p.Arg168His					SLCO1A2_uc010siq.2_Missense_Mutation_p.R36H|SLCO1A2_uc001res.3_Missense_Mutation_p.R168H|SLCO1A2_uc010sio.2_Missense_Mutation_p.R36H|SLCO1A2_uc010sip.2_Missense_Mutation_p.R36H|SLCO1A2_uc001ret.3_Missense_Mutation_p.R166H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R148H	p.R168H	NM_021094	NP_602307	P46721	SO1A2_HUMAN			4	754	-			168					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.503G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835182	0.91117	0.0	2.33E-4	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.62209	1.925	0.51012	D	0.999908	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.66284	-0.5962	10	0.15066	T	0.55	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	148;166;168	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	H	168;168;36;36;166	ENSP00000305974:R168H;ENSP00000393973:R168H;ENSP00000394854:R36H;ENSP00000439401:R36H;ENSP00000375088:R166H	ENSP00000305974:R168H	R	-	2	0	SLCO1A2	21348714	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.278000	0.78587	2.466000	0.83321	0.591000	0.81541	CGT		0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		T	21457447	C	T	21457447	3	4	9	1	0	0	0	0	1	0	0	0	14722	536	19	1	1549	1	SLCO1A2	12	21457447	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		21457447	112394448	41	612											
DDX11	1663	broad.mit.edu	37	chr12	31255360	31255360	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgggtttctcctacaGgcctgtggccaggagagagg	6	9	16	10	1	2	1	0	0	2	1	3	3	2	2	3	5	1	1	3	5	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:31255360G>T	ENST00000407793.2	+	23	2522		c.e23-1		DDX11_ENST00000545668.1_Splice_Site|DDX11_ENST00000542838.1_Splice_Site|DDX11_ENST00000228264.6_Splice_Site|DDX11_ENST00000350437.4_Splice_Site|DDX11_ENST00000251758.5_Splice_Site	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCCTACAGGCCTGTGGCC	0.577										Multiple Myeloma(12;0.14)																												uc001rjt.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.e23-1		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.							57	67	64					12																	31255360		2203	4300	6503	SO:0001630	splice_region_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255360G>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2272-1G>T	12.37:g.31255360G>T		Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Splice_Site_p.A758_splice|DDX11_uc001rjs.1_Splice_Site_p.A708_splice|DDX11_uc001rju.1_Splice_Site_p.A430_splice|DDX11_uc001rjv.1_Splice_Site_p.A758_splice|DDX11_uc001rjw.1_Splice_Site_p.A732_splice|DDX11_uc009zjn.1_Splice_Site|DDX11_uc009zjo.1_5'Flank	p.A758_splice	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			23	2523	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		758					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000407793.2	37	c.2272_splice	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.635013	0.29068	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437;ENST00000539702	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0589	0.58996	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX11	31146627	1.000000	0.71417	0.143000	0.22291	0.012000	0.07955	8.310000	0.89971	1.973000	0.57446	0.603000	0.83216	.		0.577	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Intron	T	31255360	G	T	31255360	5	4	9	1	0	0	0	0	0	0	1	0	4343	1014	35	5	2357	5	DDX11	12	31255360	Splice_Site	SNP	G	TCGA-06-0119-01A-08D-1490-08	9797913	31255360	102596535	42	613											
NUP107	57122	broad.mit.edu	37	chr12	69124921	69124921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaacatacaaatcttaTagcattttatacctgtcatt	16	14	4	7	0	2	1	1	0	1	1	2	2	2	1	1	0	4	1	1	0	7	7			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:69124921T>C	ENST00000229179.4	+	21	2098	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.I560T	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	589					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAAATCTTATAGCATTTTAT	0.303																																						uc001suf.3																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1765-1767)aTa>aCa		Homo sapiens nucleoporin 107kDa (NUP107), mRNA.							65	66	66					12																	69124921		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69124921T>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1766T>C	12.37:g.69124921T>C	ENSP00000229179:p.Ile589Thr					NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.I560T	p.I589T	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		20	1881	+	Breast(13;6.25e-06)		589					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1766T>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183266	0.38511	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.33	5.33	0.75918	.	0.100581	0.64402	D	0.000002	T	0.65270	0.2675	M	0.75777	2.31	0.80722	D	1	B;B	0.28971	0.229;0.094	B;B	0.34038	0.174;0.16	T	0.63747	-0.6567	8	.	.	.	-23.0507	15.6061	0.76672	0.0:0.0:0.0:1.0	.	560;589	B4DZ67;P57740	.;NU107_HUMAN	T	589;560	.	.	I	+	2	0	NUP107	67411188	1.000000	0.71417	0.993000	0.49108	0.240000	0.25518	7.132000	0.77251	2.160000	0.67779	0.477000	0.44152	ATA		0.303	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		C	69124921	T	C	69124921	3	2	9	1	0	0	0	0	1	0	0	0	10753	1406	49	4	1848	4	NUP107	12	69124921	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	37869561	69124921	64726974	43	614											
TRHDE	29953	broad.mit.edu	37	chr12	73014949	73014949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtggccgaaaaataattTtaatggatctcttgttcaag	12	14	10	5	1	2	0	1	0	1	0	3	2	2	1	1	3	0	1	1	3	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:73014949T>A	ENST00000261180.4	+	14	2492	c.2396T>A	c.(2395-2397)tTt>tAt	p.F799Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	799					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAAATAATTTTAATGGATCT	0.323																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2395-2397)tTt>tAt		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							109	101	104					12																	73014949		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73014949T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2396T>A	12.37:g.73014949T>A	ENSP00000261180:p.Phe799Tyr						p.F799Y	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			13	2426	+			799					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2396T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542227	0.27563	.	.	ENSG00000072657	ENST00000261180	T	0.05786	3.39	5.64	5.64	0.86602	.	0.394831	0.28425	N	0.015390	T	0.03695	0.0105	N	0.08118	0	0.24564	N	0.99396	B	0.30709	0.291	B	0.22601	0.04	T	0.38478	-0.9659	10	0.54805	T	0.06	.	11.2734	0.49153	0.1362:0.0:0.0:0.8638	.	799	Q9UKU6	TRHDE_HUMAN	Y	799	ENSP00000261180:F799Y	ENSP00000261180:F799Y	F	+	2	0	TRHDE	71301216	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.354000	0.52254	2.275000	0.75901	0.528000	0.53228	TTT		0.323	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	73014949	T	A	73014949	3	1	9	1	0	0	0	0	1	0	0	0	16476	1841	64	5	2450	5	TRHDE	12	73014949	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	3890028	73014949	60836946	44	615											
GPR109B	8843	broad.mit.edu	37	chr12	123200283	123200283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcctctggttttgttgggGtcccctgtgagctcgacgct	2	13	14	12	3	1	1	0	1	1	0	3	2	2	1	3	3	1	4	3	3	0	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:123200283G>A	ENST00000528880.2	-	1	1156	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	334					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TTTTGTTGGGGTCCCCTGTGA	0.542																																						uc001ucy.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(1000-1002)gaC>gaT		Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)						42	50	48					12																	123200283		2202	4294	6496	SO:0001819	synonymous_variant	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200283G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1002C>T	12.37:g.123200283G>A						HCAR1_uc001ucw.1_Intron	p.D334D	NM_006018	NP_006009	P49019	HCAR3_HUMAN			0	1157	-			334					A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	c.1002C>T	CCDS53842.1																																																																																				0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		A	123200283	G	A	123200283	2	1	9	1	0	0	0	0	0	0	0	1	6626	1252	44	3		3	GPR109B	12	123200283	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	50185334	123200283	10651612	45	616											
FLT3	2322	broad.mit.edu	37	chr13	28592705	28592705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaagcacgttcctggCggccaggtctctgtgaacac	8	8	13	12	2	1	2	0	2	1	0	3	2	2	2	2	4	2	2	2	4	2	1	rs201208287		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr13:28592705C>T	ENST00000241453.7	-	20	2521	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.A814T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTTCCTGGCGGCCAGGTCT	0.453			"Mis, O"		"AML, ALL"																																	uc001urw.3				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2440-2442)Gcc>Acc		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						152	116	128					13																	28592705		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592705C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2440G>A	13.37:g.28592705C>T	ENSP00000241453:p.Ala814Thr					FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	p.A814T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	19	2522	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	814			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2440G>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596450	0.96602	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.89875	-2.58;-2.58	5.88	5.88	0.94601	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.93363	0.7884	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93341	0.6710	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	814	P36888	FLT3_HUMAN	T	814	ENSP00000241453:A814T;ENSP00000370369:A814T	ENSP00000241453:A814T	A	-	1	0	FLT3	27490705	1.000000	0.71417	0.984000	0.44739	0.920000	0.55202	7.818000	0.86416	2.792000	0.96026	0.555000	0.69702	GCC		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			T	28592705	C	T	28592705	3	4	9	1	0	0	0	0	1	0	0	0	5942	768	27	1	561	1	FLT3	13	28592705	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		28592705	86577173	46	617											
YLPM1	56252	broad.mit.edu	37	chr14	75264755	75264755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagtctcggaagggcccGtagagccctctaattgggac	9	8	14	10	2	2	2	0	1	2	1	3	4	2	4	2	3	1	1	2	3	4	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:75264755G>A	ENST00000325680.7	+	5	2879	c.2755G>A	c.(2755-2757)Gta>Ata	p.V919I	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.V724I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	724	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAAGGGCCCGTAGAGCCCTC	0.483																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2755-2757)Gta>Ata		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							41	41	41					14																	75264755		1855	4092	5947	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264755G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2755G>A	14.37:g.75264755G>A	ENSP00000324463:p.Val919Ile					YLPM1_uc001xql.4_Non-coding_Transcript	p.V919I	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	2879	+			724			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2755G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	1.858	-0.463427	0.04476	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.66	-3.35	0.04928	.	0.745667	0.12644	N	0.451032	T	0.11537	0.0281	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	9	0.46703	T	0.11	-0.6394	5.7008	0.17881	0.4292:0.0:0.3885:0.1823	.	919	P49750-4	.	I	919;724;632	.	ENSP00000238571:V724I	V	+	1	0	YLPM1	74334508	0.001000	0.12720	0.346000	0.25655	0.897000	0.52465	-0.228000	0.09114	-0.324000	0.08589	-1.020000	0.02445	GTA		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		A	75264755	G	A	75264755	3	1	9	1	0	0	0	0	1	0	0	0	17483	1145	40	1	2773	1	YLPM1	14	75264755	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		75264755	32084785	47	618											
SETD3	84193	broad.mit.edu	37	chr14	99866491	99866491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctatcttcaagaaatGtccaaagtttgacctcgttg	11	13	8	9	1	3	2	1	1	2	1	5	2	4	2	2	1	0	3	2	1	4	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:99866491G>A	ENST00000331768.5	-	12	1442	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	428					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ttcaagaaatgtccaaagttt	0.373																																						uc001ygc.3																			0		p.W427*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1282-1284)aCa>aTa		Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.							90	85	87					14																	99866491		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99866491G>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1283C>T	14.37:g.99866491G>A	ENSP00000327436:p.Thr428Ile						p.T428I	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			11	1453	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	428					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1283C>T	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688553	0.68271	.	.	ENSG00000183576	ENST00000331768	T	0.17691	2.26	5.36	5.36	0.76844	Rubisco LS methyltransferase, substrate-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.52126	1.63	0.80722	D	1	B	0.29646	0.253	B	0.26517	0.07	T	0.01874	-1.1256	10	0.39692	T	0.17	-8.6567	19.0955	0.93249	0.0:0.0:1.0:0.0	.	428	Q86TU7	SETD3_HUMAN	I	428	ENSP00000327436:T428I	ENSP00000327436:T428I	T	-	2	0	SETD3	98936244	1.000000	0.71417	0.963000	0.40424	0.957000	0.61999	9.581000	0.98210	2.511000	0.84671	0.655000	0.94253	ACA		0.373	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		A	99866491	G	A	99866491	3	1	9	1	0	0	0	0	1	0	0	0	14132	1377	48	3	509	3	SETD3	14	99866491	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	24601736	99866491	7483049	48	619											
HDC	3067	broad.mit.edu	37	chr15	50534686	50534686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcactggcacactgttgCaactgagggagcgcaccgtc	9	7	11	14	2	1	1	1	1	0	0	2	2	1	2	1	2	3	4	1	2	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr15:50534686C>A	ENST00000267845.3	-	12	2162	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	HDC_ENST00000543581.1_Missense_Mutation_p.C554F|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CACACTGTTGCAACTGAGGGA	0.542																																					GBM(95;1627 1936 6910 9570)	uc001zxz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1759-1761)tGc>tTc		Homo sapiens histidine decarboxylase (HDC), mRNA.	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						166	178	174					15																	50534686		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534686C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1760G>T	15.37:g.50534686C>A	ENSP00000267845:p.Cys587Phe					HDC_uc001zxy.3_Missense_Mutation_p.C330F|HDC_uc010uff.2_Missense_Mutation_p.C554F	p.C587F	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	11	2102	-		all_lung(180;0.0138)	587						Missense_Mutation	SNP	ENST00000267845.3	37	c.1760G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635670	0.47049	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.13778	2.84;2.56	5.68	5.68	0.88126	.	0.330076	0.26987	N	0.021500	T	0.20820	0.0501	L	0.38175	1.15	0.80722	D	1	P;D	0.54397	0.93;0.966	P;P	0.49665	0.564;0.618	T	0.00210	-1.1916	10	0.72032	D	0.01	-22.7285	18.7742	0.91904	0.0:1.0:0.0:0.0	.	554;587	B7ZM01;P19113	.;DCHS_HUMAN	F	587;554	ENSP00000267845:C587F;ENSP00000440252:C554F	ENSP00000267845:C587F	C	-	2	0	HDC	48321978	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.021000	0.64072	2.676000	0.91093	0.563000	0.77884	TGC		0.542	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			A	50534686	C	A	50534686	3	1	9	1	0	0	0	0	1	0	0	0	7015	710	25	5	232	5	HDC	15	50534686	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		50534686	51996706	49	620											
C17orf68	80169	broad.mit.edu	37	chr17	8136310	8136310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtcccgaagttgcagaCaacctttatgagatgaagcc	11	11	10	9	1	0	3	0	2	0	2	1	5	1	3	3	1	3	2	3	1	4	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:8136310C>T	ENST00000315684.8	-	11	1866	c.1859G>A	c.(1858-1860)tGt>tAt	p.C620Y		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	620					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGTTGCAGACAACCTTTATG	0.483																																						uc002gkq.4																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1858-1860)tGt>tAt		Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.							145	148	147					17																	8136310		1975	4169	6144	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8136310C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1859G>A	17.37:g.8136310C>T	ENSP00000313759:p.Cys620Tyr					CTC1_uc010cnv.3_Non-coding_Transcript	p.C620Y	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			10	1918	-			620					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1859G>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	c	4.569	0.105606	0.08780	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82433	-1.61;-1.61	5.9	-2.53	0.06326	.	0.872860	0.10444	N	0.673978	T	0.69223	0.3087	M	0.63428	1.95	0.27415	N	0.954468	B	0.06786	0.001	B	0.08055	0.003	T	0.55315	-0.8160	10	0.02654	T	1	0.6871	0.3477	0.00343	0.271:0.2835:0.1322:0.3133	.	620	Q2NKJ3	CTC1_HUMAN	Y	620;585	ENSP00000313759:C620Y;ENSP00000396018:C585Y	ENSP00000313759:C620Y	C	-	2	0	CTC1	8077035	0.932000	0.31603	0.872000	0.34217	0.996000	0.88848	-0.287000	0.08388	-0.383000	0.07858	0.651000	0.88453	TGT		0.483	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		T	8136310	C	T	8136310	3	4	9	1	0	0	0	0	1	0	0	0	1876	478	17	3	1846	3	C17orf68	17	8136310	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		8136310	73058900	50	621											
NUFIP2	57532	broad.mit.edu	37	chr17	27613998	27613998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggaaaaactgggggtggTttaaatagggtccacgagtc	12	9	14	6	1	0	0	0	0	0	0	2	2	1	1	1	5	1	1	1	5	5	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:27613998T>C	ENST00000225388.4	-	2	1072	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	338						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTGGGGGTGGTTTAAATAGGG	0.413																																						uc002hdy.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1012-1014)aaA>aaG		Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.							117	123	121					17																	27613998		2203	4300	6503	SO:0001819	synonymous_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613998T>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1014A>G	17.37:g.27613998T>C						NUFIP2_uc002hdx.4_Intron	p.K338K	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	1103	-			338					A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	c.1014A>G	CCDS32600.1																																																																																				0.413	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		C	27613998	T	C	27613998	2	2	9	1	0	0	0	0	0	0	0	1	10749	1722	60	4		4	NUFIP2	17	27613998	Silent	SNP	T	TCGA-06-0119-01A-08D-1490-08	19477688	27613998	53581212	51	622											
NF1	4763	broad.mit.edu	37	chr17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaacatgactggcttcCtttgtgcccttgggggagtg	6	12	14	9	0	1	1	1	1	0	0	2	3	2	3	2	4	2	1	2	4	1	3	rs199474785		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:29556163C>T	ENST00000358273.4	+	21	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_ENST00000356175.3_Missense_Mutation_p.L844F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	844			L -> F (in NF1; dbSNP:rs199474785). {ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:15060124}.|L -> P (in NF1; dbSNP:rs137854566). {ECO:0000269|PubMed:15060124}.|L -> R (in NF1; sporadic; dbSNP:rs137854566). {ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:9150739}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM002379	NF1	M		c.(2530-2532)Ctt>Ttt		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							35	32	33					17																	29556163		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556163C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2530C>T	17.37:g.29556163C>T	ENSP00000351015:p.Leu844Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	p.L844F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2913	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	844		L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2530C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.335613	0.81801	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.36340	1.46;1.61;1.26	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.91635	0.999;0.991;0.996	T	0.67469	-0.5663	10	0.87932	D	0	.	19.5802	0.95464	0.0:1.0:0.0:0.0	.	844;844;844	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	F	844;844;510	ENSP00000351015:L844F;ENSP00000348498:L844F;ENSP00000389907:L510F	ENSP00000348498:L844F	L	+	1	0	NF1	26580289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.413000	0.44618	2.634000	0.89283	0.555000	0.69702	CTT		0.517	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29556163	C	T	29556163	3	4	9	1	0	0	0	0	1	0	0	0	10356	681	24	3	2673	3	NF1	17	29556163	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1942165	29556163	51639047	52	623											
GAS2L2	246176	broad.mit.edu	37	chr17	34073181	34073181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatatccctttggtggtGgcctcaatggctcggagtct	5	13	13	10	1	2	1	1	1	1	0	4	2	3	2	2	5	0	2	2	5	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:34073181G>A	ENST00000254466.6	-	6	1362	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	GAS2L2_ENST00000587565.1_Silent_p.A429A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	445					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTGGTGGTGGCCTCAATGG	0.612																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1333-1335)gcC>gcT		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							149	162	158					17																	34073181		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073181G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1335C>T	17.37:g.34073181G>A							p.A445A	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1363	-		Ovarian(249;0.17)	445					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1335C>T	CCDS11298.1																																																																																				0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		A	34073181	G	A	34073181	2	1	9	1	0	0	0	0	0	0	0	1	6247	1335	47	3		3	GAS2L2	17	34073181	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	4517018	34073181	47122029	53	624											
KRT28	162605	broad.mit.edu	37	chr17	38953242	38953242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgagctggctccgggCgaaagtggctgcgcctgagt	5	8	17	11	4	0	2	0	2	0	0	2	3	1	2	2	4	2	3	2	4	1	0	rs146193469		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:38953242C>T	ENST00000306658.7	-	5	969	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TGGCTCCGGGCGAAAGTGGCT	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		16913	0		0	False		,,,				2504	0				Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(904-906)Gcc>Acc		Homo sapiens keratin 28 (KRT28), mRNA.		C	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	50	56	54		904	5	0.6	17	dbSNP_134	54	0,8600		0,0,4300	yes	missense	KRT28	NM_181535.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	302/465	38953242	6,13000	2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953242C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.904G>A	17.37:g.38953242C>T	ENSP00000305263:p.Ala302Thr						p.A302T	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			4	970	-		Breast(137;0.000301)	302			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.904G>A	CCDS11376.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.93	3.259062	0.59321	0.001362	0.0	ENSG00000173908	ENST00000306658	D	0.89123	-2.47	5.0	5.0	0.66597	Filament (1);	0.000000	0.51477	D	0.000097	D	0.89385	0.6700	L	0.55103	1.725	0.39091	D	0.96109	D	0.56746	0.977	P	0.48552	0.581	D	0.90306	0.4333	10	0.45353	T	0.12	.	17.633	0.88114	0.0:1.0:0.0:0.0	.	302	Q7Z3Y7	K1C28_HUMAN	T	302	ENSP00000305263:A302T	ENSP00000305263:A302T	A	-	1	0	KRT28	36206768	0.072000	0.21174	0.624000	0.29186	0.066000	0.16364	1.732000	0.38146	2.479000	0.83701	0.591000	0.81541	GCC		0.662	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		T	38953242	C	T	38953242	3	4	9	1	0	0	0	0	1	0	0	0	8465	768	27	1	506	1	KRT28	17	38953242	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	4880061	38953242	42241968	54	625											
MTMR4	9110	broad.mit.edu	37	chr17	56581411	56581411	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagggctcagactcacCatgtctgagctgggtgtgta	10	9	14	8	0	3	2	2	1	1	1	3	3	3	3	1	3	1	3	1	3	3	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56581411C>A	ENST00000323456.5	-	14	1780	c.1656G>T	c.(1654-1656)atG>atT	p.M552I	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	552	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGACTCACCATGTCTGAGC	0.483																																						uc002iwj.2																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.e14+1		Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.							58	61	60					17																	56581411		2203	4300	6503	SO:0001630	splice_region_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581411C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1656+1G>T	17.37:g.56581411C>A							p.M552_splice	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			14	1766	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		552			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1656_splice	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978056	0.34942	.	.	ENSG00000108389	ENST00000323456	D	0.89485	-2.52	5.81	5.81	0.92471	Myotubularin phosphatase domain (1);	0.948915	0.09000	N	0.863168	T	0.80644	0.4662	N	0.04746	-0.17	0.47009	D	0.999285	B	0.02656	0.0	B	0.04013	0.001	T	0.65508	-0.6151	9	.	.	.	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	552	Q9NYA4	MTMR4_HUMAN	I	552	ENSP00000325285:M552I	.	M	-	3	0	MTMR4	53936410	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	5.692000	0.68256	2.752000	0.94435	0.467000	0.42956	ATG		0.483	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	Missense_Mutation	A	56581411	C	A	56581411	5	1	9	1	0	0	0	0	0	0	1	0	9946	608	21	5	1955	5	MTMR4	17	56581411	Splice_Site	SNP	C	TCGA-06-0119-01A-08D-1490-08	17628169	56581411	24613799	55	626											
MTMR4	9110	broad.mit.edu	37	chr17	56585838	56585838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccctctcacttgtagttgCtgttgatgtgtgagactctc	7	15	9	10	0	2	2	1	2	2	1	4	3	2	2	1	0	2	4	1	0	2	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56585838C>T	ENST00000323456.5	-	7	666	c.542G>A	c.(541-543)aGc>aAc	p.S181N	MTMR4_ENST00000579925.1_Missense_Mutation_p.S181N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	181	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGTAGTTGCTGTTGATGTG	0.527																																						uc002iwj.2																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(541-543)aGc>aAc		Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.							223	166	185					17																	56585838		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56585838C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.542G>A	17.37:g.56585838C>T	ENSP00000325285:p.Ser181Asn						p.S181N	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			6	652	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		181			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.542G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113081	0.37339	.	.	ENSG00000108389	ENST00000323456	D	0.93019	-3.15	6.07	6.07	0.98685	Myotubularin phosphatase domain (1);	0.212863	0.56097	D	0.000021	D	0.86748	0.6007	N	0.21097	0.63	0.34187	D	0.671654	B	0.14012	0.009	B	0.12837	0.008	D	0.83729	0.0197	10	0.30078	T	0.28	.	9.4772	0.38878	0.0:0.852:0.0:0.148	.	181	Q9NYA4	MTMR4_HUMAN	N	181	ENSP00000325285:S181N	ENSP00000325285:S181N	S	-	2	0	MTMR4	53940837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.095000	0.30964	2.890000	0.99128	0.650000	0.86243	AGC		0.527	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		T	56585838	C	T	56585838	3	4	9	1	0	0	0	0	1	0	0	0	9946	797	28	3	3097	3	MTMR4	17	56585838	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	4427	56585838	24609372	56	627											
GH1	2688	broad.mit.edu	37	chr17	61995152	61995152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggatgccttcctctaggtCctttaggaggtcatagacgt	7	14	11	9	1	2	1	1	0	1	1	4	3	4	3	3	4	1	0	3	4	3	6			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:61995152C>T	ENST00000323322.5	-	4	466	c.424G>A	c.(424-426)Gac>Aac	p.D142N	GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.D102N|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.D127N	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	142					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TCCTCTAGGTCCTTTAGGAGG	0.587																																						uc002jdj.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(424-426)Gac>Aac		Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.							67	67	67					17																	61995152		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995152C>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.424G>A	17.37:g.61995152C>T	ENSP00000312673:p.Asp142Asn					GH1_uc002jdi.3_Missense_Mutation_p.D127N|GH1_uc002jdk.3_Missense_Mutation_p.D102N|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron	p.D142N	NM_000515	NP_000506	P01241	SOMA_HUMAN			3	486	-			142					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.424G>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	9.058	0.993713	0.19043	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.90844	-2.4;-2.4;-2.74	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.349972	0.30969	N	0.008501	D	0.90259	0.6954	M	0.69823	2.125	0.80722	D	1	B;B;B	0.25007	0.116;0.023;0.023	B;B;B	0.39771	0.309;0.033;0.033	D	0.88397	0.3012	10	0.54805	T	0.06	.	7.2631	0.26214	0.2637:0.7363:0.0:0.0	.	102;142;127	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	N	142;127;102	ENSP00000312673:D142N;ENSP00000408486:D127N;ENSP00000343791:D102N	ENSP00000312673:D142N	D	-	1	0	GH1	59348884	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	1.847000	0.39299	1.594000	0.50039	0.298000	0.19748	GAC		0.587	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		T	61995152	C	T	61995152	3	4	9	1	0	0	0	0	1	0	0	0	6367	855	30	3	237	3	GH1	17	61995152	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	5409314	61995152	19200058	57	628											
ICAM2	3384	broad.mit.edu	37	chr17	62080238	62080238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgaacagggacagcaacaCcgacaccaccgtgactatga	15	3	9	14	3	0	2	0	2	0	0	0	5	0	3	3	1	3	1	3	1	3	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:62080238C>A	ENST00000412356.1	-	6	1051	c.697G>T	c.(697-699)Gtg>Ttg	p.V233L	ICAM2_ENST00000579788.1_Missense_Mutation_p.V233L|ICAM2_ENST00000418105.1_Missense_Mutation_p.V233L|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000578892.1_Missense_Mutation_p.V209L|ICAM2_ENST00000578379.1_Missense_Mutation_p.V132L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.V233L|ICAM2_ENST00000449662.2_Missense_Mutation_p.V233L|C17orf72_ENST00000412177.1_3'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	233					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GACAGCAACACCGACACCACC	0.612																																						uc002jdu.4																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(697-699)Gtg>Ttg		Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.							116	86	96					17																	62080238		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62080238C>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.697G>T	17.37:g.62080238C>A	ENSP00000415283:p.Val233Leu					C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.V233L|ICAM2_uc010ded.3_Missense_Mutation_p.V233L|ICAM2_uc002jdx.4_Missense_Mutation_p.V233L|ICAM2_uc002jdv.4_Missense_Mutation_p.V233L	p.V233L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN			3	929	-			233					Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.697G>T	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	C	6.053	0.378150	0.11466	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.04119	3.7;3.7;3.7	4.51	1.09	0.20402	.	0.327066	0.22037	N	0.065518	T	0.04770	0.0129	L	0.52364	1.645	0.09310	N	1	B	0.22080	0.064	B	0.17979	0.02	T	0.31861	-0.9928	10	0.45353	T	0.12	-17.5125	5.6672	0.17702	0.0:0.4512:0.4304:0.1184	.	233	P13598	ICAM2_HUMAN	L	233	ENSP00000415283:V233L;ENSP00000388666:V233L;ENSP00000392634:V233L	ENSP00000415283:V233L	V	-	1	0	ICAM2	59433970	0.283000	0.24277	0.035000	0.18076	0.063000	0.16089	0.369000	0.20416	0.480000	0.27534	0.484000	0.47621	GTG		0.612	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			A	62080238	C	A	62080238	3	1	9	1	0	0	0	0	1	0	0	0	7480	507	18	5	134	5	ICAM2	17	62080238	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	85086	62080238	19114972	58	629											
FADS6	283985	broad.mit.edu	37	chr17	72878745	72878745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggcaaggcagcctccaCgtgctggagtcccccaggcc	7	6	13	15	1	0	1	0	1	0	0	2	2	2	2	5	4	2	3	5	4	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:72878745C>T	ENST00000310226.6	-	3	467	c.453G>A	c.(451-453)acG>acA	p.T151T		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	157					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCCTCCACGTGCTGGAGT	0.602																																						uc002jmd.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(451-453)acG>acA		Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.							80	93	89					17																	72878745		2191	4286	6477	SO:0001819	synonymous_variant	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72878745C>T	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.453G>A	17.37:g.72878745C>T						FADS6_uc010wrn.1_Missense_Mutation_p.R68H	p.T151T	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			2	465	-	all_lung(278;0.172)|Lung NSC(278;0.207)		157					Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	c.453G>A	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641286	0.29157	.	.	ENSG00000172782	ENST00000413142	.	.	.	5.26	-6.85	0.01681	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.13415	-1.0510	7	0.15066	T	0.55	-45.8144	11.9139	0.52755	0.0:0.1597:0.5453:0.295	.	68	B4DEP0	.	H	68	.	ENSP00000396743:R68H	R	-	2	0	FADS6	70390340	0.000000	0.05858	0.913000	0.36048	0.994000	0.84299	-5.235000	0.00139	-1.079000	0.03113	0.655000	0.94253	CGT		0.602	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			T	72878745	C	T	72878745	2	4	9	1	0	0	0	0	0	0	0	1	5368	523	19	1		1	FADS6	17	72878745	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08	10798507	72878745	8316465	59	630											
SLC26A11	6448	broad.mit.edu	37	chr17	78195495	78195495	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccagctactccctgCagtggctgaagatggatttc	7	10	12	12	0	0	2	0	1	0	1	2	3	1	3	2	3	4	4	2	3	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:78195495C>T	ENST00000326317.6	-	0	0				SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000361193.3_Nonsense_Mutation_p.Q46*|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000572725.1_Nonsense_Mutation_p.Q46*|SLC26A11_ENST00000546047.2_Nonsense_Mutation_p.Q46*|SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000411502.3_Nonsense_Mutation_p.Q46*	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTACTCCCTGCAGTGGCTGAA	0.687																																						uc002jyb.2																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(136-138)Cag>Tag		Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.							28	30	29					17																	78195495		2202	4300	6502	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78195495C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78195495C>T	Exception_encountered					SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc002jyd.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc010dhv.2_Nonsense_Mutation_p.Q46*	p.Q46*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		2	442	+	all_neural(118;0.0538)		46					A8K5E2	Nonsense_Mutation	SNP	ENST00000326317.6	37	c.136C>T	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	36	5.698486	0.96802	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	.	.	.	4.37	-0.447	0.12234	.	0.662303	0.15964	N	0.236081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-3.9483	5.6628	0.17678	0.2505:0.5142:0.0:0.2353	.	.	.	.	X	46	.	ENSP00000355384:Q46X	Q	+	1	0	SLC26A11	75810090	0.046000	0.20272	0.280000	0.24747	0.922000	0.55478	0.111000	0.15458	0.121000	0.18284	0.586000	0.80456	CAG		0.687	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		T	78195495	C	T	78195495	1	4	9	0	1	0	0	0	0	0	0	0	14516	711	25	3		3	SLC26A11	17	78195495	5'Flank	SNP	C	TCGA-06-0119-01A-08D-1490-08	5316750	78195495	2999715	60	631											
REXO1	57455	broad.mit.edu	37	chr19	1828079	1828079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggccgagtagttggagaGagggtcatactccaggtctg	8	8	16	9	2	2	1	1	0	1	1	3	4	3	2	3	4	1	2	3	4	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:1828079G>A	ENST00000170168.4	-	2	803	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	237						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTTGGAGAGAGGGTCATAC	0.701																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(709-711)Ctc>Ttc		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.							39	43	42					19																	1828079		2203	4283	6486	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828079G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.709C>T	19.37:g.1828079G>A	ENSP00000170168:p.Leu237Phe					REXO1_uc010dsr.1_Missense_Mutation_p.L191F	p.L237F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	804	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	237					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.709C>T	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460162	0.63401	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.28069	1.63	4.13	4.13	0.48395	.	0.282905	0.29273	N	0.012630	T	0.52533	0.1740	M	0.76002	2.32	0.49798	D	0.999821	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.96	T	0.56353	-0.7993	10	0.72032	D	0.01	-20.7441	10.8964	0.47025	0.0:0.0:0.8123:0.1877	.	191;237	F5H016;Q8N1G1	.;REXO1_HUMAN	F	237;191	ENSP00000170168:L237F	ENSP00000170168:L237F	L	-	1	0	REXO1	1779079	1.000000	0.71417	0.750000	0.31169	0.698000	0.40448	4.606000	0.61126	2.134000	0.65973	0.561000	0.74099	CTC		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		A	1828079	G	A	1828079	3	1	9	1	0	0	0	0	1	0	0	0	13241	942	33	3	3016	3	REXO1	19	1828079	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		1828079	57300904	61	632											
ANO8	57719	broad.mit.edu	37	chr19	17436028	17436028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcagaggccttctcGgaggaggtggcagggtccag	6	7	18	10	1	1	1	0	0	1	1	3	3	2	3	3	7	0	2	3	7	0	2	rs144454643		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:17436028G>A	ENST00000159087.4	-	17	2987	c.2829C>T	c.(2827-2829)tcC>tcT	p.S943S		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	943					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGGCCTTCTCGGAGGAGGTGG	0.692																																						uc002ngf.2																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2827-2829)tcC>tcT		Homo sapiens anoctamin 8 (ANO8), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	34	34	34		2829	-9	0	19	dbSNP_134	34	0,8596		0,0,4298	no	coding-synonymous	ANO8	NM_020959.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		943/1233	17436028	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17436028G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2829C>T	19.37:g.17436028G>A						ANO8_uc010eap.2_Non-coding_Transcript	p.S943S	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			16	2988	-			943					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.2829C>T	CCDS32949.1																																																																																				0.692	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17436028	G	A	17436028	2	1	9	1	0	0	0	0	0	0	0	1	703	1103	39	2		2	ANO8	19	17436028	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	15607949	17436028	41692955	62	633											
CEACAM21	90273	broad.mit.edu	37	chr19	42083911	42083911	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccatctccgtgtatacGgtgagtgattcctccgtgcc	6	12	9	14	3	2	2	1	2	1	0	5	2	4	2	5	1	2	1	5	1	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:42083911G>A	ENST00000401445.2	+	2	450	c.424G>A	c.(424-426)Gag>Aag	p.E142K	CEACAM21_ENST00000187608.9_Splice_Site_p.E142K|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	142						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGTGTATACGGTGAGTGATT	0.522																																						uc002ore.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.e2+1		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.							67	66	67					19																	42083911		2196	4296	6492	SO:0001630	splice_region_variant	90273					integral to membrane		g.chr19:42083911G>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.424+1G>A	19.37:g.42083911G>A						CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.4_Splice_Site_p.E142_splice	p.E142_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			2	520	+			142					B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.424_splice	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	G	0.604	-0.827756	0.02734	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.52526	0.66;0.66	1.84	-0.859	0.10685	Immunoglobulin-like fold (1);	.	.	.	.	T	0.20007	0.0481	N	0.11870	0.19	0.09310	N	1	B;B	0.24258	0.1;0.01	B;B	0.21360	0.034;0.001	T	0.24621	-1.0155	9	0.06494	T	0.89	.	3.7367	0.08514	0.2773:0.4416:0.2811:0.0	.	142;142	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	K	142	ENSP00000187608:E142K;ENSP00000385739:E142K	ENSP00000187608:E142K	E	+	1	0	CEACAM21	46775751	0.001000	0.12720	0.009000	0.14445	0.296000	0.27459	-0.570000	0.05895	-0.095000	0.12351	0.123000	0.15791	GAG		0.522	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543	Missense_Mutation	A	42083911	G	A	42083911	5	1	9	1	0	0	0	0	0	0	1	0	3192	1130	39	2	430	2	CEACAM21	19	42083911	Splice_Site	SNP	G	TCGA-06-0119-01A-08D-1490-08	24647883	42083911	17045072	63	634											
NTF4	4909	broad.mit.edu	37	chr19	49564974	49564974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcatcgcacacagccAgctcaccccgacgactcgct	9	6	8	18	4	1	1	1	1	0	0	3	3	1	1	3	0	3	4	3	0	0	0			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:49564974A>C	ENST00000593537.1	-	1	280	c.281T>G	c.(280-282)cTg>cGg	p.L94R	CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000451356.2_Intron|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000594938.1_5'Flank|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.L94R|CTB-60B18.12_ENST00000597865.1_RNA			P34130	NTF4_HUMAN	neurotrophin 4	94					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCACACAGCCAGCTCACCCCG	0.692																																						uc002pmf.4																			0				kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(280-282)cTg>cGg		Homo sapiens neurotrophin 4 (NTF4), mRNA.							20	17	18					19																	49564974		2182	4265	6447	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564974A>C		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"Endogenous ligands"	8024	protein-coding gene	gene with protein product	"neurotrophic factor 4"	162662	"neurotrophin 5 (neurotrophin 4/5)"	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.281T>G	19.37:g.49564974A>C	ENSP00000469455:p.Leu94Arg					NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.L94R	p.L94R	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	1	417	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	94					Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.281T>G	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129817	0.37630	.	.	ENSG00000167744	ENST00000301411	T	0.69306	-0.39	3.54	3.54	0.40534	Nerve growth factor-related (5);	0.507797	0.16678	N	0.204044	T	0.56426	0.1984	L	0.39147	1.195	0.41534	D	0.988474	P	0.43826	0.818	B	0.38755	0.281	T	0.63440	-0.6637	10	0.87932	D	0	-5.8971	11.7454	0.51817	1.0:0.0:0.0:0.0	.	94	P34130	NTF4_HUMAN	R	94	ENSP00000301411:L94R	ENSP00000301411:L94R	L	-	2	0	NTF4	54256786	0.080000	0.21391	1.000000	0.80357	0.441000	0.31987	1.491000	0.35583	1.583000	0.49898	0.260000	0.18958	CTG		0.692	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		C	49564974	A	C	49564974	3	2	9	1	0	0	0	0	1	0	0	0	10697	188	7	5	355	5	NTF4	19	49564974	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	7481063	49564974	9564009	64	635											
KLK6	5653	broad.mit.edu	37	chr19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgggcgtgccaggCgcaacagcatgatgtcctgg	6	9	16	10	2	0	1	0	1	0	0	1	1	1	1	2	4	3	4	2	4	1	1	rs553226234		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:51466671C>T	ENST00000376851.3	-	4	771	c.332G>A	c.(331-333)cGc>cAc	p.R111H	KLK6_ENST00000310157.2_Missense_Mutation_p.R111H|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_Missense_Mutation_p.R4H|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.R4H|KLK6_ENST00000594641.1_Missense_Mutation_p.R111H	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													C|||	1	0.000199681	0	0	5008	,	,		19571	0		0	False		,,,				2504	0.001					uc002puh.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(358-360)cGc>cAc		Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.							90	64	73					19																	51466671		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466671C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.332G>A	19.37:g.51466671C>T	ENSP00000366047:p.Arg111His					KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	p.R120H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	2	424	-		all_neural(266;0.026)	111			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.359G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	16.24	3.066532	0.55539	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.69	-0.0942	0.13646	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	T	0.80747	0.4682	M	0.63843	1.955	0.09310	N	1	P;B	0.35959	0.53;0.014	B;B	0.26202	0.067;0.002	T	0.71189	-0.4666	10	0.51188	T	0.08	.	3.6265	0.08114	0.1695:0.4454:0.0:0.3851	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	H	111;111;4;4	ENSP00000309148:R111H;ENSP00000366047:R111H;ENSP00000375684:R4H;ENSP00000409241:R4H	ENSP00000309148:R111H	R	-	2	0	KLK6	56158483	0.093000	0.21703	0.396000	0.26296	0.892000	0.51952	0.379000	0.20585	0.178000	0.19917	0.486000	0.48141	CGC		0.617	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		T	51466671	C	T	51466671	3	4	9	1	0	0	0	0	1	0	0	0	8408	768	27	1	414	1	KLK6	19	51466671	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1901697	51466671	7662312	65	636											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850588	58850588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgagcaccagaggatcCacacgggagagaagccttat	13	7	11	10	1	1	3	1	1	0	2	2	6	2	5	3	2	2	1	3	2	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:58850588C>T	ENST00000329665.4	+	3	1519	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	458					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCAGAGGATCCACACGGGAGA	0.542																																						uc002qsc.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1372-1374)Cac>Tac		Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.							81	75	77					19																	58850588		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850588C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1372C>T	19.37:g.58850588C>T	ENSP00000332433:p.His458Tyr					ZSCAN22_uc010yhz.1_3'UTR	p.H458Y	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	1519	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	458					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1372C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821716	0.71028	.	.	ENSG00000182318	ENST00000329665	T	0.67523	-0.27	4.06	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82273	0.5001	M	0.93898	3.47	0.36184	D	0.849591	D	0.71674	0.998	P	0.60609	0.877	D	0.87361	0.2344	9	0.87932	D	0	.	9.7364	0.40390	0.0:0.8961:0.0:0.1039	.	458	P10073	ZSC22_HUMAN	Y	458	ENSP00000332433:H458Y	ENSP00000332433:H458Y	H	+	1	0	ZSCAN22	63542400	1.000000	0.71417	0.639000	0.29394	0.966000	0.64601	5.369000	0.66138	1.041000	0.40125	0.563000	0.77884	CAC		0.542	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		T	58850588	C	T	58850588	3	4	9	1	0	0	0	0	1	0	0	0	18231	594	21	3	1378	3	ZSCAN22	19	58850588	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	7383917	58850588	278395	66	637											
SLC35C2	51006	broad.mit.edu	37	chr20	44979115	44979115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggagcagcagctccAggtcggggctggagcccagc	6	5	16	14	2	0	0	0	0	0	0	3	2	2	2	3	5	6	5	3	5	0	0			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:44979115A>G	ENST00000372227.1	-	10	1556	c.1016T>C	c.(1015-1017)cTg>cCg	p.L339P	SLC35C2_ENST00000372229.1_Missense_Mutation_p.L206P|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L368P|SLC35C2_ENST00000372230.5_Missense_Mutation_p.L339P|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L339P|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L318P	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	339					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCAGGTCGGGGCT	0.617																																						uc010zxp.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(1102-1104)cTg>cCg		Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.							41	41	41					20																	44979115		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44979115A>G		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"Solute carriers"	17117	protein-coding gene	gene with protein product			"ovarian cancer overexpressed 1", "solute carrier family 35, member C2"	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.1016T>C	20.37:g.44979115A>G	ENSP00000361301:p.Leu339Pro					SLC35C2_uc002xro.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrp.3_Missense_Mutation_p.L318P|SLC35C2_uc002xrq.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrr.3_Missense_Mutation_p.L339P|SLC35C2_uc010zxn.2_Missense_Mutation_p.L204P|SLC35C2_uc010zxo.2_Missense_Mutation_p.L225P	p.L368P	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN			10	1196	-		Myeloproliferative disorder(115;0.0122)	339					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.1103T>C	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757591	0.69648	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	T;T	0.78816	-1.21;0.75	4.48	3.38	0.38709	.	0.207411	0.29335	N	0.012454	T	0.76090	0.3939	L	0.27053	0.805	0.80722	D	1	B;D;D;D	0.71674	0.0;0.997;0.998;0.997	B;P;D;P	0.66351	0.001;0.879;0.943;0.879	T	0.71307	-0.4632	10	0.30854	T	0.27	-7.4576	8.0278	0.30446	0.9071:0.0:0.0929:0.0	.	368;204;318;339	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	P	318;339;339;206;339;207;368	ENSP00000318960:L318P;ENSP00000361303:L206P	ENSP00000243896:L339P	L	-	2	0	SLC35C2	44412522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.470000	0.60175	0.756000	0.33013	0.533000	0.62120	CTG		0.617	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		G	44979115	A	G	44979115	3	3	9	1	0	0	0	0	1	0	0	0	14580	188	7	4	85	4	SLC35C2	20	44979115	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08		44979115	18046405	67	638											
PTGIS	5740	broad.mit.edu	37	chr20	48129691	48129691	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggcggtcaccacgtcGcaggttgaattctcgcccgt	7	8	14	12	5	2	1	1	1	1	0	4	3	2	2	2	4	0	2	2	4	1	2	rs370453415		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:48129691G>A	ENST00000244043.4	-	8	1161	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	378					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TCACCACGTCGCAGGTTGAAT	0.612																																						uc002xut.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1132-1134)Cga>Tga		Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	Phenylbutazone(DB00812)	G	stop/ARG	0,4406		0,0,2203	103	96	99		1132	4.8	1	20		99	1,8599		0,1,4299	no	stop-gained	PTGIS	NM_000961.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		378/501	48129691	1,13005	2203	4300	6503	SO:0001587	stop_gained	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48129691G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1132C>T	20.37:g.48129691G>A	ENSP00000244043:p.Arg378*					PTGIS_uc010zyi.2_Nonsense_Mutation_p.R239*	p.R378*	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		7	1186	-			378					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Nonsense_Mutation	SNP	ENST00000244043.4	37	c.1132C>T	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	36	5.811399	0.96975	0.0	1.16E-4	ENSG00000124212	ENST00000244043	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6415	11.7405	0.51790	0.0:0.0:0.8234:0.1766	.	.	.	.	X	378	.	ENSP00000244043:R378X	R	-	1	2	PTGIS	47563098	0.979000	0.34478	1.000000	0.80357	0.997000	0.91878	1.781000	0.38644	2.202000	0.70862	0.561000	0.74099	CGA		0.612	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			A	48129691	G	A	48129691	4	1	9	1	0	0	0	0	0	1	0	0	12752	1095	38	1	382	1	PTGIS	20	48129691	Nonsense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	3150576	48129691	14895829	68	639											
PKDREJ	10343	broad.mit.edu	37	chr22	46657006	46657006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagaaggaaagactgatcGatgaggtgttttcggagatt	13	10	15	3	2	0	5	0	2	0	3	2	9	0	7	0	4	0	1	0	4	3	3	rs368849728		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr22:46657006G>A	ENST00000253255.5	-	1	2213	c.2214C>T	c.(2212-2214)atC>atT	p.I738I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	738	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACTGATCGATGAGGTGTT	0.408																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(2212-2214)atC>atT		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	97	98	98		2214	0.5	0	22		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKDREJ	NM_006071.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		738/2254	46657006	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657006G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2214C>T	22.37:g.46657006G>A							p.I738I	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	2214	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	738			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.2214C>T	CCDS14073.1																																																																																				0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46657006	G	A	46657006	2	1	9	1	0	0	0	0	0	0	0	1	11970	1048	37	2		2	PKDREJ	22	46657006	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08		46657006	4647560	69	640											
ARSE	415	broad.mit.edu	37	chrX	2867744	2867744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcactggctgactcaCagttgagacccagatgccat	12	9	9	11	0	2	4	2	3	0	2	2	5	2	4	2	1	1	2	2	1	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:2867744C>G	ENST00000381134.3	-	6	521	c.455G>C	c.(454-456)tGt>tCt	p.C152S	ARSE_ENST00000540563.1_Missense_Mutation_p.C107S|ARSE_ENST00000545496.1_Missense_Mutation_p.C177S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	152					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTGACTCACAGTTGAGACC	0.483																																						uc011mhh.2																			0		p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(529-531)tGt>tCt		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							61	42	48					X																	2867744		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867744C>G	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.455G>C	X.37:g.2867744C>G	ENSP00000370526:p.Cys152Ser					ARSE_uc011mhi.2_Missense_Mutation_p.C98S|ARSE_uc004crc.4_Missense_Mutation_p.C152S	p.C177S			P51690	ARSE_HUMAN			6	991	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	152					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.530G>C	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098835	0.37048	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134;ENST00000438544	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	3.56	3.56	0.40772	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.79123	2.44	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.989;0.941	D	0.99091	1.0840	10	0.52906	T	0.07	.	14.5713	0.68213	0.0:1.0:0.0:0.0	.	107;177;152	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	S	107;177;152;152	ENSP00000438198:C107S;ENSP00000441417:C177S;ENSP00000370526:C152S;ENSP00000406528:C152S	ENSP00000370526:C152S	C	-	2	0	ARSE	2877744	1.000000	0.71417	0.183000	0.23137	0.304000	0.27724	6.354000	0.73036	1.403000	0.46800	0.600000	0.82982	TGT		0.483	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		G	2867744	C	G	2867744	3	3	9	1	0	0	0	0	1	0	0	0	990	478	17	5	1338	5	ARSE	23	2867744	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		2867744	152402816	70	641											
MXRA5	25878	broad.mit.edu	37	chrX	3235366	3235366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggccacgcactcatagCgcccgctgtccttgggcgcg	4	7	14	16	6	1	0	1	0	0	0	2	0	2	0	3	3	1	2	3	3	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:3235366C>T	ENST00000217939.6	-	6	6510	c.6356G>A	c.(6355-6357)cGc>cAc	p.R2119H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2119	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACTCATAGCGCCCGCTGTC	0.662																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6355-6357)cGc>cAc		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							36	30	32					X																	3235366		2201	4299	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3235366C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6356G>A	X.37:g.3235366C>T	ENSP00000217939:p.Arg2119His						p.R2119H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6513	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2119			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6356G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944382	0.53079	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67698	-0.28	3.63	1.36	0.22044	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.773939	0.10431	U	0.675565	T	0.66761	0.2822	L	0.52823	1.66	0.26078	N	0.981138	D	0.71674	0.998	P	0.62184	0.899	T	0.58329	-0.7655	10	0.13470	T	0.59	.	1.5692	0.02611	0.1536:0.3591:0.2881:0.1992	.	2119	Q9NR99	MXRA5_HUMAN	H	2119	ENSP00000217939:R2119H	ENSP00000217939:R2119H	R	-	2	0	MXRA5	3245366	0.058000	0.20735	0.996000	0.52242	0.962000	0.63368	-0.251000	0.08818	1.440000	0.47531	0.597000	0.82753	CGC		0.662	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3235366	C	T	3235366	3	4	9	1	0	0	0	0	1	0	0	0	10003	768	27	1	2138	1	MXRA5	23	3235366	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	367622	3235366	152035194	71	642											
MAGEB1	4112	broad.mit.edu	37	chrX	30269233	30269233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctctcctgggtgtgaTcttcttaaagggcaactctg	7	13	11	10	0	4	1	0	1	4	0	5	2	4	1	2	2	2	1	2	2	3	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:30269233T>C	ENST00000378981.3	+	4	944	c.623T>C	c.(622-624)aTc>aCc	p.I208T	MAGEB1_ENST00000397550.1_Missense_Mutation_p.I208T|MAGEB1_ENST00000397548.2_Missense_Mutation_p.I208T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	208	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGGTGTGATCTTCTTAAAG	0.488																																						uc022buh.1																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(622-624)aTc>aCc		Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.							81	61	67					X																	30269233		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269233T>C		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.623T>C	X.37:g.30269233T>C	ENSP00000368264:p.Ile208Thr					MAGEB1_uc004dcc.3_Missense_Mutation_p.I208T|MAGEB1_uc004dcd.3_Missense_Mutation_p.I208T|MAGEB1_uc004dce.3_Missense_Mutation_p.I208T	p.I208T	NM_177415	NP_803134	P43366	MAGB1_HUMAN			0	623	+			208			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.623T>C	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460925	0.63513	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.12672	2.66;2.66;2.66	3.76	3.76	0.43208	.	0.056718	0.64402	D	0.000002	T	0.47581	0.1453	H	0.98133	4.155	0.09310	N	0.999994	D	0.71674	0.998	D	0.67382	0.951	T	0.53294	-0.8459	10	0.87932	D	0	.	8.0484	0.30564	0.0:0.0:0.0:1.0	.	208	P43366	MAGB1_HUMAN	T	208	ENSP00000368264:I208T;ENSP00000380683:I208T;ENSP00000380681:I208T	ENSP00000368264:I208T	I	+	2	0	MAGEB1	30179154	1.000000	0.71417	0.216000	0.23742	0.633000	0.38033	3.181000	0.50903	1.716000	0.51395	0.486000	0.48141	ATC		0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		C	30269233	T	C	30269233	3	2	9	1	0	0	0	0	1	0	0	0	9172	1435	50	4	625	4	MAGEB1	23	30269233	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	27033867	30269233	125001327	72	643											
FAM47A	158724	broad.mit.edu	37	chrX	34148878	34148878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgagtcttgggaggctcCgagcggagactggacgtccg	7	6	17	11	6	1	1	0	0	1	1	3	7	3	3	2	4	1	1	2	4	0	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:34148878C>T	ENST00000346193.3	-	1	1569	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	506			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGAGCGGAGAC	0.652																																						uc004ddg.3																			0		p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1516-1518)tcG>tcA		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							29	29	29					X																	34148878		2181	4252	6433	SO:0001819	synonymous_variant	158724							g.chrX:34148878C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1518G>A	X.37:g.34148878C>T							p.S506S	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			0	1570	-			506		Missing.			A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1518G>A	CCDS43926.1																																																																																				0.652	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148878	C	T	34148878	2	4	9	1	0	0	0	0	0	0	0	1	5569	639	23	2		2	FAM47A	23	34148878	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08	3879645	34148878	121121682	73	644											
PHF16	9767	broad.mit.edu	37	chrX	46884151	46884151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctgagaaggtaaaggacGttctgtttatccgaccccgg	10	10	12	9	3	1	1	0	1	1	1	2	4	2	2	3	3	1	4	3	3	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:46884151G>A	ENST00000218343.4	+	5	608	c.310G>A	c.(310-312)Gtt>Att	p.V104I	PHF16_ENST00000397189.1_Missense_Mutation_p.V104I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGTAAAGGACGTTCTGTTTAT	0.448																																						uc004dgx.3																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(310-312)Gtt>Att		Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.							92	77	82					X																	46884151		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46884151G>A																												ENST00000218343.4:c.310G>A	X.37:g.46884151G>A	ENSP00000218343:p.Val104Ile					PHF16_uc004dgy.3_Missense_Mutation_p.V104I	p.V104I	NM_001077445	NP_055550	Q92613	JADE3_HUMAN			4	361	+			104						Missense_Mutation	SNP	ENST00000218343.4	37	c.310G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	6.107	0.388001	0.11581	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.79	1.02	0.19986	Enhancer of polycomb-like, N-terminal (1);	0.501056	0.21334	N	0.076250	T	0.37073	0.0990	M	0.61703	1.905	0.22096	N	0.999366	B	0.11235	0.004	B	0.10450	0.005	T	0.29058	-1.0024	10	0.36615	T	0.2	.	9.9661	0.41725	0.3467:0.0:0.6533:0.0	.	104	Q92613	JADE3_HUMAN	I	104	ENSP00000391009:V104I;ENSP00000380373:V104I;ENSP00000218343:V104I;ENSP00000400584:V104I	ENSP00000218343:V104I	V	+	1	0	PHF16	46769095	0.353000	0.24904	0.000000	0.03702	0.185000	0.23345	0.765000	0.26546	0.000000	0.14550	-0.268000	0.10319	GTT		0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			A	46884151	G	A	46884151	3	1	9	1	0	0	0	0	1	0	0	0	11827	1145	40	1	324	1	PHF16	23	46884151	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	12735273	46884151	108386409	74	645											
RBM10	8241	broad.mit.edu	37	chrX	47041361	47041361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccctagctgttcccgacGtctctacctaccagtacgat	8	10	6	17	3	1	0	0	0	1	0	3	2	2	0	5	0	4	3	5	0	4	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:47041361G>A	ENST00000377604.3	+	16	2447	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I	RBM10_ENST00000345781.6_Missense_Mutation_p.V492I|RBM10_ENST00000329236.7_Missense_Mutation_p.V491I	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	569	Tyr-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTTCCCGACGTCTCTACCTA	0.577																																					Melanoma(171;120 2705 19495 39241)	uc004dhi.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(1900-1902)Gtc>Atc		Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.							102	83	89					X																	47041361		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47041361G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1705G>A	X.37:g.47041361G>A	ENSP00000366829:p.Val569Ile					RBM10_uc004dhf.3_Missense_Mutation_p.V569I|RBM10_uc004dhh.3_Missense_Mutation_p.V568I|RBM10_uc010nhq.3_Missense_Mutation_p.V492I|RBM10_uc004dhg.3_Missense_Mutation_p.V491I	p.V634I	NM_001204468	NP_001191397	P98175	RBM10_HUMAN			15	2129	+			569					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.1900G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832258	0.50845	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.73;2.07;2.33	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.50333	1.59	0.27069	N	0.963378	D;D;D;D;D	0.76494	0.999;0.988;0.997;0.999;0.973	D;P;P;D;B	0.76071	0.97;0.614;0.8;0.987;0.432	T	0.18053	-1.0349	10	0.62326	D	0.03	-28.7291	9.2422	0.37504	0.101:0.0:0.899:0.0	.	492;634;568;491;569	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	I	569;491;492	ENSP00000366829:V569I;ENSP00000328848:V491I;ENSP00000329659:V492I	ENSP00000328848:V491I	V	+	1	0	RBM10	46926305	0.322000	0.24634	0.991000	0.47740	0.615000	0.37417	1.828000	0.39111	2.347000	0.79759	0.525000	0.51046	GTC		0.577	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		A	47041361	G	A	47041361	3	1	9	1	0	0	0	0	1	0	0	0	13111	1145	40	1	1763	1	RBM10	23	47041361	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	157210	47041361	108229199	75	646											
ARL13A	392509	broad.mit.edu	37	chrX	100240808	100240808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatgggcttgttttcGtcctggattccagtgacata	7	13	11	10	1	0	1	0	1	0	0	3	2	2	2	3	3	0	2	3	3	1	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100240808G>A	ENST00000450049.2	+	4	396	c.283G>A	c.(283-285)Gtc>Atc	p.V95I		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	95					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468																																						uc004ego.3																			0				endometrium(1)|ovary(1)	2						c.(283-285)Gtc>Atc		Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.							93	87	89					X																	100240808		1950	4142	6092	SO:0001583	missense	392509						GTP binding	g.chrX:100240808G>A		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.283G>A	X.37:g.100240808G>A	ENSP00000398637:p.Val95Ile					ARL13A_uc011mrf.2_Missense_Mutation_p.V95I|ARL13A_uc010nng.3_Missense_Mutation_p.V95I	p.V95I	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			3	399	+			95					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.283G>A	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281331	0.59758	.	.	ENSG00000174225	ENST00000450049	D	0.88975	-2.45	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	M	0.82193	2.58	0.41319	D	0.987168	D;D	0.89917	1.0;1.0	D;D	0.76071	0.981;0.987	D	0.94318	0.7551	10	0.87932	D	0	.	11.6418	0.51237	0.0:0.0:1.0:0.0	.	95;95	B2RTT6;Q5H913	.;AR13A_HUMAN	I	95	ENSP00000398637:V95I	ENSP00000398637:V95I	V	+	1	0	ARL13A	100127464	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.353000	0.59411	2.522000	0.85027	0.594000	0.82650	GTC		0.468	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		A	100240808	G	A	100240808	3	1	9	1	0	0	0	0	1	0	0	0	928	1145	40	1	293	1	ARL13A	23	100240808	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	53199447	100240808	55029752	76	647											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667805	100667805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtctgatcatagatacGgagatggtgggtccagtttc	10	12	13	6	1	2	3	1	1	1	2	4	5	3	3	1	3	1	1	1	3	3	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100667805G>A	ENST00000316594.5	+	2	907	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	277	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCATAGATACGGAGATGGTGG	0.428																																						uc022cai.1																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(829-831)Gga>Aga		Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.							79	71	74					X																	100667805		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667805G>A	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.829G>A	X.37:g.100667805G>A	ENSP00000361927:p.Gly277Arg					RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.G277R|HNRNPH2_uc004ehn.3_Missense_Mutation_p.G277R	p.G277R	NM_019597	NP_062543	P55795	HNRH2_HUMAN			0	829	+			277			2 X 16 AA Gly-rich approximate repeats.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.829G>A	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154416	0.57259	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.32753	1.44	4.76	4.76	0.60689	Zinc finger, CHHC-type (1);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	P	0.55577	0.779	T	0.22312	-1.0220	10	0.72032	D	0.01	-10.8902	14.3159	0.66450	0.0:0.0:1.0:0.0	.	277	P55795	HNRH2_HUMAN	R	232;277	ENSP00000361927:G277R	ENSP00000361927:G277R	G	+	1	0	HNRNPH2	100554461	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.562000	0.98145	2.345000	0.79718	0.513000	0.50165	GGA		0.428	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		A	100667805	G	A	100667805	3	1	9	1	0	0	0	0	1	0	0	0	7267	1117	39	2	831	2	HNRNPH2	23	100667805	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	426997	100667805	54602755	77	648											
SLC6A14	11254	broad.mit.edu	37	chrX	115586616	115586616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttgctggtttgtaattaCgcctatccttttgattgtaa	8	18	8	7	1	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	4	9			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:115586616C>T	ENST00000371900.4	+	12	1686	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	533					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T533M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTGTAATTACGCCTATCCTT	0.348																																						uc004eqi.3																			1	Substitution - Missense(1)	p.T533M(2)	breast(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1597-1599)aCg>aTg		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						205	173	184					X																	115586616		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115586616C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1598C>T	X.37:g.115586616C>T	ENSP00000360967:p.Thr533Met						p.T533M	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			11	1729	+			533					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1598C>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711447	0.30322	.	.	ENSG00000087916	ENST00000371900	T	0.76448	-1.02	5.31	5.31	0.75309	.	0.049263	0.85682	D	0.000000	D	0.90988	0.7166	H	0.94222	3.51	0.45318	D	0.998314	D	0.89917	1.0	D	0.72338	0.977	D	0.93446	0.6798	10	0.87932	D	0	.	15.3116	0.74039	0.0:1.0:0.0:0.0	.	533	Q9UN76	S6A14_HUMAN	M	533	ENSP00000360967:T533M	ENSP00000360967:T533M	T	+	2	0	SLC6A14	115500644	0.998000	0.40836	0.289000	0.24876	0.025000	0.11179	3.754000	0.55189	2.207000	0.71202	0.415000	0.27848	ACG		0.348	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			T	115586616	C	T	115586616	3	4	9	1	0	0	0	0	1	0	0	0	14677	536	19	1	1644	1	SLC6A14	23	115586616	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	14918811	115586616	39683944	78	649											
RHOXF1	158800	broad.mit.edu	37	chrX	119249400	119249400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacatcagggtattgagTgtgtcggaaaacactttcca	11	10	12	8	1	1	1	1	1	0	0	3	2	2	2	1	3	1	2	1	3	3	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:119249400T>A	ENST00000217999.2	-	1	447	c.373A>T	c.(373-375)Act>Tct	p.T125S	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	125					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGTATTGAGTGTGTCGGAAA	0.577																																						uc004esk.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(373-375)Act>Tct		Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.							70	60	63					X																	119249400		2203	4296	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249400T>A		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.373A>T	X.37:g.119249400T>A	ENSP00000217999:p.Thr125Ser					AK123976_uc004esi.1_Intron	p.T125S	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN			0	448	-			125					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.373A>T	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	t	10.62	1.401803	0.25291	.	.	ENSG00000101883	ENST00000217999	D	0.95518	-3.73	2.67	2.67	0.31697	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.93897	0.8047	L	0.33093	0.98	0.09310	N	1	D	0.63046	0.992	P	0.60068	0.868	D	0.86114	0.1564	9	0.25106	T	0.35	-20.1221	6.3616	0.21431	0.0:0.0:0.0:1.0	.	125	Q8NHV9	RHXF1_HUMAN	S	125	ENSP00000217999:T125S	ENSP00000217999:T125S	T	-	1	0	RHOXF1	119133428	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.075000	0.14686	1.298000	0.44778	0.414000	0.27820	ACT		0.577	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		A	119249400	T	A	119249400	3	1	9	1	0	0	0	0	1	0	0	0	13347	1696	59	5	193	5	RHOXF1	23	119249400	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	3662784	119249400	36021160	79	650											
IRAK1	3654	broad.mit.edu	37	chrX	153283486	153283486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggtcctccagggagcCgttgggcaggaagccgtaca	9	5	16	11	3	0	1	0	0	0	1	2	4	2	3	4	4	3	3	4	4	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:153283486C>T	ENST00000369980.3	-	7	1047	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	IRAK1_ENST00000369974.2_Missense_Mutation_p.G294S|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393682.1_Missense_Mutation_p.G320S|IRAK1_ENST00000429936.2_Missense_Mutation_p.G320S|IRAK1_ENST00000393687.2_Missense_Mutation_p.G294S|IRAK1_ENST00000477274.1_5'UTR	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGGAGCCGTTGGGCAGG	0.612																																						uc004fjs.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(880-882)Ggc>Agc		Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.							98	75	83					X																	153283486		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153283486C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.880G>A	X.37:g.153283486C>T	ENSP00000358997:p.Gly294Ser					IRAK1_uc004fjr.1_Missense_Mutation_p.G294S|IRAK1_uc004fjt.1_Missense_Mutation_p.G294S|IRAK1_uc004fju.2_Missense_Mutation_p.G320S	p.G294S	NM_001569	NP_001560	P51617	IRAK1_HUMAN			6	959	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		294			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.880G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.3|26.3	4.728172|4.728172	0.89390|0.89390	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	T;D;D;T;T|.	0.96265|.	0.64;-3.96;-3.96;0.64;0.64|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.110783|.	0.40554|.	N|.	0.001070|.	T|T	0.78310|0.78310	0.4263|0.4263	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	P;D;P|.	0.63877|.	0.87;0.919;0.868|.	T|T	0.80799|0.80799	-0.1221|-0.1221	10|5	0.87932|.	D|.	0|.	-31.9292|-31.9292	16.3256|16.3256	0.82978|0.82978	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294;294;294|.	P51617-4;P51617;P51617-2|.	.;IRAK1_HUMAN;.|.	S|Q	294;294;320;294;320|64	ENSP00000358997:G294S;ENSP00000358991:G294S;ENSP00000377287:G320S;ENSP00000377291:G294S;ENSP00000392662:G320S|.	ENSP00000358991:G294S|.	G|R	-|-	1|2	0|0	IRAK1|IRAK1	152936680|152936680	0.995000|0.995000	0.38212|0.38212	0.891000|0.891000	0.34965|0.34965	0.716000|0.716000	0.41182|0.41182	3.140000|3.140000	0.50585|0.50585	2.107000|2.107000	0.64212|0.64212	0.529000|0.529000	0.55759|0.55759	GGC|CGG		0.612	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			T	153283486	C	T	153283486	3	4	9	1	0	0	0	0	1	0	0	0	7821	652	23	2	1290	2	IRAK1	23	153283486	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	34034086	153283486	1987074	80	651											
MTOR	2475	broad.mit.edu	37	chr1	11174395	11174395	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcagcctccagttcAgcaaggggtcatagacaaag	12	8	10	11	0	3	1	3	0	0	1	5	1	5	1	3	2	2	2	3	2	3	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:11174395A>T	ENST00000361445.4	-	53	7356	c.7280T>A	c.(7279-7281)cTg>cAg	p.L2427Q	MTOR_ENST00000376838.1_Missense_Mutation_p.L632Q	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2427	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTCCAGTTCAGCAAGGGGTC	0.537																																						uc001asd.3																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7279-7281)cTg>cAg		Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.							135	115	122					1																	11174395		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11174395A>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7280T>A	1.37:g.11174395A>T	ENSP00000354558:p.Leu2427Gln					MTOR_uc001asc.3_Missense_Mutation_p.L632Q	p.L2427Q	NM_004958	NP_004949	P42345	MTOR_HUMAN			52	7401	-			2427			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7280T>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842624	0.91197	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.80033	-1.33;-1.33;-1.33	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91209	0.4997	10	0.87932	D	0	-16.8498	15.497	0.75662	1.0:0.0:0.0:0.0	.	2427	P42345	MTOR_HUMAN	Q	2427;632;83	ENSP00000354558:L2427Q;ENSP00000366034:L632Q;ENSP00000398745:L83Q	ENSP00000354558:L2427Q	L	-	2	0	MTOR	11096982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	CTG		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11174395	A	T	11174395	3	4	10	1	0	0	0	0	1	0	0	0	9954	188	7	5	393	5	MTOR	1	11174395	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		11174395	238076226	1	652											
UBR4	23352	broad.mit.edu	37	chr1	19492180	19492180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaactcctccatagctttaCgagcctggctactttccagc	10	11	6	14	1	0	0	0	0	0	0	3	1	3	0	4	1	6	2	4	1	5	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:19492180C>T	ENST00000375254.3	-	30	4208	c.4181G>A	c.(4180-4182)cGt>cAt	p.R1394H	UBR4_ENST00000375267.2_Missense_Mutation_p.R1394H|UBR4_ENST00000375217.2_Missense_Mutation_p.R1394H|UBR4_ENST00000375226.2_Missense_Mutation_p.R1394H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1394			R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1394H(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATAGCTTTACGAGCCTGGCT	0.433																																						uc001bbi.3																			2	Substitution - Missense(2)	p.R1394H(4)|p.R1394C(1)	breast(2)	breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4180-4182)cGt>cAt		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							91	89	90					1																	19492180		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19492180C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4181G>A	1.37:g.19492180C>T	ENSP00000364403:p.Arg1394His					UBR4_uc001bbm.1_Missense_Mutation_p.R605H	p.R1394H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	29	4185	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1394		R -> H (in a breast cancer sample; somatic mutation).			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4181G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756146	0.89843	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.13	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.70335	-0.4900	10	0.28530	T	0.3	.	19.8931	0.96937	0.0:1.0:0.0:0.0	.	1394	Q5T4S7	UBR4_HUMAN	H	1394;1394;1394;1394;104;610	ENSP00000364403:R1394H;ENSP00000364416:R1394H;ENSP00000364365:R1394H;ENSP00000364374:R1394H;ENSP00000404897:R104H	ENSP00000364365:R1394H	R	-	2	0	UBR4	19364767	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.376000	0.79658	2.873000	0.98535	0.563000	0.77884	CGT		0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19492180	C	T	19492180	3	4	10	1	0	0	0	0	1	0	0	0	16901	536	19	1	11678	1	UBR4	1	19492180	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	8317785	19492180	229758441	2	653											
EYA3	2140	broad.mit.edu	37	chr1	28362074	28362074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaggaggtagtccataCgtttgggttgcctgagggta	10	10	14	7	1	0	1	0	1	0	0	1	2	1	2	3	4	2	4	3	4	5	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:28362074C>T	ENST00000373871.3	-	6	582	c.342G>A	c.(340-342)acG>acA	p.T114T	EYA3_ENST00000540618.1_Silent_p.T114T|EYA3_ENST00000373863.3_Silent_p.T114T|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Silent_p.T61T	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	114					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTAGTCCATACGTTTGGGTTG	0.428																																						uc001bpi.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(340-342)acG>acA		Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.							264	254	257					1																	28362074		2203	4300	6503	SO:0001819	synonymous_variant	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28362074C>T	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.342G>A	1.37:g.28362074C>T						EYA3_uc010ofs.2_Silent_p.T61T|EYA3_uc010oft.2_Silent_p.T114T|EYA3_uc001bpj.3_Silent_p.T114T|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	p.T114T	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	5	524	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	114					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Silent	SNP	ENST00000373871.3	37	c.342G>A	CCDS316.1																																																																																				0.428	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		T	28362074	C	T	28362074	2	4	10	1	0	0	0	0	0	0	0	1	5330	523	19	1		1	EYA3	1	28362074	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	8869894	28362074	220888547	3	654											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960310	33960310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccagagaattcacaCgggggaaaagccctataaat	16	6	8	11	1	2	1	2	0	0	1	2	3	2	2	2	2	1	0	2	2	6	3	rs375908590		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:33960310C>T	ENST00000361328.3	+	8	2519	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	789					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAATTCACACGGGGGAAAAG	0.438													C|||	1	0.000199681	0	0	5008	,	,		19741	0		0	False		,,,				2504	0.001					uc001bxj.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2365-2367)aCg>aTg		Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.		C	MET/THR	1,4111		0,1,2055	78	82	80		2366	1.9	0	1		80	0,8474		0,0,4237	no	missense	ZSCAN20	NM_145238.3	81	0,1,6292	TT,TC,CC		0.0,0.0243,0.0079	possibly-damaging	789/1044	33960310	1,12585	2056	4237	6293	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960310C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2366C>T	1.37:g.33960310C>T	ENSP00000355053:p.Thr789Met					ZSCAN20_uc009vui.3_Missense_Mutation_p.T788M	p.T789M	NM_145238	NP_660281	P17040	ZSC20_HUMAN			7	2533	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	789					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2366C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168908	0.38315	2.43E-4	0.0	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.301668	0.28635	N	0.014654	T	0.50343	0.1610	M	0.87547	2.89	0.33522	D	0.592497	P;P	0.45902	0.868;0.765	B;B	0.34779	0.158;0.189	T	0.64529	-0.6386	9	0.87932	D	0	-2.4475	8.6864	0.34240	0.0:0.6708:0.0:0.3292	.	788;789	P17040-3;P17040	.;ZSC20_HUMAN	M	789;723;723	.	ENSP00000324450:T789M	T	+	2	0	ZSCAN20	33732897	0.845000	0.29573	0.038000	0.18304	0.981000	0.71138	1.733000	0.38156	0.087000	0.17167	0.561000	0.74099	ACG		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		T	33960310	C	T	33960310	3	4	10	1	0	0	0	0	1	0	0	0	18229	536	19	1	2392	1	ZSCAN20	1	33960310	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	5598236	33960310	215290311	4	655											
EPHA10	284656	broad.mit.edu	37	chr1	38227491	38227491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttgcggggccggctgcCgcctaggcggggacgcccac	4	6	17	14	5	0	0	0	0	0	0	0	2	0	1	4	6	2	1	4	6	1	3	rs146430998		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:38227491C>T	ENST00000373048.4	-	3	435	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	EPHA10_ENST00000319637.6_Missense_Mutation_p.G146S|EPHA10_ENST00000427468.2_Missense_Mutation_p.G146S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCGGCTGCCGCCTAGGCGG	0.662																																						uc009vvi.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(436-438)Ggc>Agc		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							30	36	34					1																	38227491		2202	4298	6500	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227491C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.436G>A	1.37:g.38227491C>T	ENSP00000362139:p.Gly146Ser					EPHA10_uc001cbw.4_Missense_Mutation_p.G146S	p.G146S	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	522	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	146					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.436G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821668	0.50633	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03358	3.96;3.96;3.96	4.75	2.57	0.30868	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.178710	0.27306	N	0.019974	T	0.02193	0.0068	N	0.11427	0.14	0.80722	D	1	B;B	0.19331	0.035;0.007	B;B	0.10450	0.005;0.001	T	0.53121	-0.8483	10	0.49607	T	0.09	.	7.3386	0.26623	0.0:0.6894:0.0:0.3106	.	146;146	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	S	146	ENSP00000397746:G146S;ENSP00000362139:G146S;ENSP00000316395:G146S	ENSP00000316395:G146S	G	-	1	0	EPHA10	38000078	0.316000	0.24580	0.655000	0.29622	0.990000	0.78478	1.134000	0.31442	0.512000	0.28257	0.643000	0.83706	GGC		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227491	C	T	38227491	3	4	10	1	0	0	0	0	1	0	0	0	5166	652	23	2	2688	2	EPHA10	1	38227491	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	4267181	38227491	211023130	5	656											
SGIP1	84251	broad.mit.edu	37	chr1	67194966	67194966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatcgttaagattaccGgagaaatggtgttgtcattt	11	15	11	4	2	1	2	1	0	0	2	2	4	1	2	1	2	1	3	1	2	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:67194966G>A	ENST00000371037.4	+	20	1839	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	SGIP1_ENST00000435165.2_Missense_Mutation_p.G93R|SGIP1_ENST00000371039.1_Missense_Mutation_p.G391R|SGIP1_ENST00000237247.6_Missense_Mutation_p.G619R|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000371035.3_Missense_Mutation_p.G378R|SGIP1_ENST00000371036.3_Missense_Mutation_p.G390R	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	588	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAAGATTACCGGAGAAATGGT	0.423																																						uc001dcr.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1762-1764)Gga>Aga		Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.							119	111	114					1																	67194966		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67194966G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1762G>A	1.37:g.67194966G>A	ENSP00000360076:p.Gly588Arg					SGIP1_uc010opd.2_Missense_Mutation_p.G188R|SGIP1_uc001dcs.3_Missense_Mutation_p.G188R|SGIP1_uc001dct.3_Missense_Mutation_p.G190R|SGIP1_uc009wat.3_Missense_Mutation_p.G382R|SGIP1_uc001dcu.3_Missense_Mutation_p.G93R	p.G588R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			19	1979	+			588					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1762G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163062	0.78226	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.37	4.46	0.54185	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.99;0.998;1.0	D;D;P;P;D	0.83275	0.99;0.939;0.872;0.872;0.996	D	0.94567	0.7767	10	0.87932	D	0	-6.6804	14.0049	0.64456	0.073:0.0:0.927:0.0	.	618;93;190;378;588	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	R	619;391;378;618;591;390;588;93	ENSP00000237247:G619R;ENSP00000360078:G391R;ENSP00000360074:G378R;ENSP00000360075:G390R;ENSP00000360076:G588R;ENSP00000395525:G93R	ENSP00000237247:G619R	G	+	1	0	SGIP1	66967554	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	9.465000	0.97660	1.286000	0.44565	0.491000	0.48974	GGA		0.423	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67194966	G	A	67194966	3	1	10	1	0	0	0	0	1	0	0	0	14206	1117	39	2	1840	2	SGIP1	1	67194966	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	28967475	67194966	182055655	6	657											
SPAG17	200162	broad.mit.edu	37	chr1	118548038	118548038	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaaggtgcactttaccTgaaaagtgtttccctcagga	12	11	8	10	0	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	5	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:118548038T>G	ENST00000336338.5	-	32	4840	c.4775A>C	c.(4774-4776)cAg>cCg	p.Q1592P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1592						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCACTTTACCTGAAAAGTGTT	0.448																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.e32+1		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							108	104	105					1																	118548038		2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548038T>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4776+1A>C	1.37:g.118548038T>G						SPAG17_uc021osr.1_Splice_Site_p.Q102_splice	p.Q1592_splice	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4844	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1592					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4776_splice	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044902	0.75732	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.21031	2.03	5.6	5.6	0.85130	.	0.232418	0.45606	D	0.000356	T	0.31199	0.0789	M	0.71581	2.175	0.44871	D	0.997887	D	0.63880	0.993	P	0.59424	0.857	T	0.04255	-1.0965	10	0.44086	T	0.13	.	14.7761	0.69732	0.0:0.0:0.0:1.0	.	1592	Q6Q759	SPG17_HUMAN	P	1592;72	ENSP00000337804:Q1592P	ENSP00000337804:Q1592P	Q	-	2	0	SPAG17	118349561	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.482000	0.66833	2.121000	0.65114	0.533000	0.62120	CAG		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Missense_Mutation	G	118548038	T	G	118548038	5	3	10	1	0	0	0	0	0	0	1	0	14979	1594	55	5	1964	5	SPAG17	1	118548038	Splice_Site	SNP	T	TCGA-06-0122-01A-01D-1490-08	51353072	118548038	130702583	7	658											
APH1A	51107	broad.mit.edu	37	chr1	150239482	150239482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccaactcaccagtcccGatgtcagtaggtgactccca	9	9	8	15	1	3	1	2	1	1	0	6	2	5	1	4	1	1	1	4	1	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:150239482G>A	ENST00000369109.3	-	5	790	c.602C>T	c.(601-603)tCg>tTg	p.S201L	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Missense_Mutation_p.S131L|APH1A_ENST00000360244.4_Missense_Mutation_p.S201L|APH1A_ENST00000461320.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	201					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAGTCCCGATGTCAGTAG	0.507																																						uc001ety.2																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(601-603)tCg>tTg		Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.							88	89	89					1																	150239482		1972	4177	6149	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150239482G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.602C>T	1.37:g.150239482G>A	ENSP00000358105:p.Ser201Leu					APH1A_uc001etz.2_Missense_Mutation_p.S201L|APH1A_uc010pbx.2_Missense_Mutation_p.S131L|APH1A_uc010pby.2_Missense_Mutation_p.S144L|APH1A_uc010pbz.2_Missense_Mutation_p.S85L	p.S201L	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	1001	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		201					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.602C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315976	0.81469	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.18	5.18	0.71444	.	0.077740	0.53938	D	0.000050	T	0.64875	0.2638	M	0.79258	2.445	0.80722	D	1	D;D;D;P;P;D	0.76494	0.995;0.999;0.999;0.886;0.906;0.971	D;D;D;B;P;P	0.80764	0.988;0.967;0.994;0.394;0.529;0.544	T	0.67662	-0.5613	10	0.87932	D	0	-4.9563	16.5567	0.84487	0.0:0.0:1.0:0.0	.	85;144;131;201;201;201	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	L	201;201;131;144	ENSP00000358105:S201L;ENSP00000353380:S201L;ENSP00000397473:S131L;ENSP00000236017:S144L	ENSP00000236017:S144L	S	-	2	0	APH1A	148506106	1.000000	0.71417	0.955000	0.39395	0.963000	0.63663	9.461000	0.97646	2.848000	0.98002	0.655000	0.94253	TCG		0.507	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		A	150239482	G	A	150239482	3	1	10	1	0	0	0	0	1	0	0	0	771	1059	37	2	218	2	APH1A	1	150239482	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	31691444	150239482	99011139	8	659											
FLG2	388698	broad.mit.edu	37	chr1	152325713	152325713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgagtgtgtcctgaatGtgtgtgcgagccccctgagt	5	11	15	10	2	0	3	0	3	0	0	1	4	1	3	4	0	2	0	4	0	1	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:152325713G>A	ENST00000388718.5	-	3	4621	c.4549C>T	c.(4549-4551)Cat>Tat	p.H1517Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1517					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAATGTGTGTGCGAG	0.498																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4549-4551)Cat>Tat		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							325	311	315					1																	152325713		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325713G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4549C>T	1.37:g.152325713G>A	ENSP00000373370:p.His1517Tyr					AK056431_uc001ezv.3_Intron	p.H1517Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4622	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1517					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4549C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	11.17	1.558392	0.27827	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	4.54	1.6	0.23607	.	.	.	.	.	T	0.03827	0.0108	M	0.74647	2.275	0.09310	N	1	B	0.24618	0.107	B	0.19148	0.024	T	0.33111	-0.9881	9	0.54805	T	0.06	-1.9774	7.2529	0.26160	0.2909:0.0:0.7091:0.0	.	1517	Q5D862	FILA2_HUMAN	Y	1517	ENSP00000373370:H1517Y	ENSP00000373370:H1517Y	H	-	1	0	FLG2	150592337	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-1.313000	0.02718	0.149000	0.19098	-0.418000	0.06021	CAT		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152325713	G	A	152325713	3	1	10	1	0	0	0	0	1	0	0	0	5923	1377	48	3	2630	3	FLG2	1	152325713	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	2086231	152325713	96924908	9	660											
PPOX	5498	broad.mit.edu	37	chr1	161138221	161138221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctagtctcacccttaaGgtggcgtctctagccatgga	8	11	10	12	1	2	0	1	0	2	0	5	1	3	1	3	3	1	0	3	3	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:161138221G>T	ENST00000367999.4	+	6	737		c.e6-1		PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Splice_Site|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCACCCTTAAGGTGGCGTCTC	0.522																																						uc001fyj.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.e6-1		Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							148	136	140					1																	161138221		2203	4300	6503	SO:0001630	splice_region_variant	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138221G>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.472-1G>T	1.37:g.161138221G>T						PPOX_uc001fyg.2_Splice_Site_p.V158_splice|PPOX_uc010pkg.1_5'UTR|PPOX_uc001fyi.2_5'UTR|PPOX_uc010pkh.1_Intron	p.V158_splice	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	762	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		158					D3DVG0|Q5VTW8	Splice_Site	SNP	ENST00000367999.4	37	c.472_splice	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.93|19.93	3.918622|3.918622	0.73098|0.73098	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000352210;ENST00000367999|ENST00000435935	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71995	.|0.3406	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73613	.|-0.3927	.|5	.|0.56958	.|D	.|0.05	.|.	17.7413|17.7413	0.88407|0.88407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|124	.|.	.|ENSP00000411649:K124N	.|K	+|+	.|3	.|2	PPOX|PPOX	159404845|159404845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.806000|7.806000	0.86020|0.86020	2.701000|2.701000	0.92244|0.92244	0.650000|0.650000	0.86243|0.86243	.|AAG		0.522	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309	Intron	T	161138221	G	T	161138221	5	4	10	1	0	0	0	0	0	0	1	0	12348	1014	35	5	489	5	PPOX	1	161138221	Splice_Site	SNP	G	TCGA-06-0122-01A-01D-1490-08	8812508	161138221	88112400	10	661											
HMCN1	83872	broad.mit.edu	37	chr1	186092143	186092143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggacaagcccatcaCgttatcctgtgaagcagatg	10	10	11	10	1	1	2	1	1	0	1	2	3	2	3	2	1	3	3	2	1	3	1	rs370916387		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:186092143C>T	ENST00000271588.4	+	81	12519	c.12290C>T	c.(12289-12291)aCg>aTg	p.T4097M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T4097M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4097	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T4097M(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCCCATCACGTTATCCTGT	0.433																																						uc001grq.1																			1	Substitution - Missense(1)	p.T4097M(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12289-12291)aCg>aTg		Homo sapiens hemicentin 1 (HMCN1), mRNA.		C	MET/THR	0,4406		0,0,2203	116	97	103		12290	-1.2	0	1		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4097/5636	186092143	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092143C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12290C>T	1.37:g.186092143C>T	ENSP00000271588:p.Thr4097Met					MIR548F1_uc021pgf.1_Intron	p.T4097M	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			80	12519	+			4097			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12290C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	3.752	-0.051329	0.07407	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.85	-1.22	0.09494	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.637600	0.17373	N	0.176594	T	0.59404	0.2191	M	0.66378	2.025	0.09310	N	1	B	0.20261	0.043	B	0.15484	0.013	T	0.50259	-0.8849	10	0.38643	T	0.18	.	10.6051	0.45390	0.0:0.4481:0.0:0.5519	.	4097	Q96RW7	HMCN1_HUMAN	M	4097	ENSP00000271588:T4097M;ENSP00000356462:T4097M	ENSP00000271588:T4097M	T	+	2	0	HMCN1	184358766	0.036000	0.19791	0.000000	0.03702	0.027000	0.11550	0.404000	0.20999	-0.525000	0.06391	-0.302000	0.09304	ACG		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186092143	C	T	186092143	3	4	10	1	0	0	0	0	1	0	0	0	7220	536	19	1	12612	1	HMCN1	1	186092143	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	24953922	186092143	63158478	11	662											
RYR2	6262	broad.mit.edu	37	chr1	237811774	237811774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaacctgacatgtctgCggggttttgcccagatcaca	8	10	13	10	1	2	2	1	1	1	1	2	3	2	3	2	4	3	1	2	4	1	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:237811774C>T	ENST00000366574.2	+	49	7690	c.7373C>T	c.(7372-7374)gCg>gTg	p.A2458V	RYR2_ENST00000542537.1_Missense_Mutation_p.A2442V|RYR2_ENST00000360064.6_Missense_Mutation_p.A2456V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2458	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2456V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGTCTGCGGGGTTTTGC	0.458																																						uc001hyl.1																			1	Substitution - Missense(1)	p.G2457E(2)|p.A2456V(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7372-7374)gCg>gTg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							95	88	90					1																	237811774		1896	4136	6032	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237811774C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7373C>T	1.37:g.237811774C>T	ENSP00000355533:p.Ala2458Val						p.A2458V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7493	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2458			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7373C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521356	0.85600	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96522	-4.04;-4.04;-4.04	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	D	0.97835	0.9289	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98223	1.0479	10	0.66056	D	0.02	-12.8196	14.7056	0.69189	0.1456:0.8544:0.0:0.0	.	2458	Q92736	RYR2_HUMAN	V	2458;2456;2442	ENSP00000355533:A2458V;ENSP00000353174:A2456V;ENSP00000443798:A2442V	ENSP00000353174:A2456V	A	+	2	0	RYR2	235878397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.945000	0.70226	2.563000	0.86464	0.655000	0.94253	GCG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237811774	C	T	237811774	3	4	10	1	0	0	0	0	1	0	0	0	13769	768	27	1	7567	1	RYR2	1	237811774	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	51719631	237811774	11438847	12	663											
PRKD3	23683	broad.mit.edu	37	chr2	37516578	37516578	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctggtaaagatacatttGacagacgtctctttcttact	10	15	7	9	1	2	3	0	1	2	2	4	3	3	3	1	1	2	1	1	1	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:37516578G>C	ENST00000379066.1	-	5	1400	c.638C>G	c.(637-639)tCa>tGa	p.S213*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.S213*			O94806	KPCD3_HUMAN	protein kinase D3	213					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGATACATTTGACAGACGTCT	0.413																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.3																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(637-639)tCa>tGa		Homo sapiens protein kinase D3 (PRKD3), mRNA.							107	102	104					2																	37516578		2203	4300	6503	SO:0001587	stop_gained	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37516578G>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.638C>G	2.37:g.37516578G>C	ENSP00000368356:p.Ser213*					PRKD3_uc002rqf.1_Nonsense_Mutation_p.S213*	p.S213*	NM_005813	NP_005804	O94806	KPCD3_HUMAN			3	1193	-		all_hematologic(82;0.21)	213					D6W587|Q53TR7|Q8NEL8	Nonsense_Mutation	SNP	ENST00000379066.1	37	c.638C>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	37	6.340281	0.97489	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.1097	18.7091	0.91649	0.0:0.0:1.0:0.0	.	.	.	.	X	213;213;109	.	ENSP00000234179:S213X	S	-	2	0	PRKD3	37370082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	TCA		0.413	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		C	37516578	G	C	37516578	4	2	10	1	0	0	0	0	0	1	0	0	12520	1294	45	5	2094	5	PRKD3	2	37516578	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		37516578	205682795	13	664											
PCDP1	200373	broad.mit.edu	37	chr2	120369295	120369295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagaagttagccataaaCgggttgttcgcaatcaagaa	17	8	9	7	2	1	2	1	0	0	2	2	2	1	2	1	1	3	4	1	1	8	4	rs149304410		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:120369295C>T	ENST00000413369.3	+	13	1375	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.R144W	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TAGCCATAAACGGGTTGTTCG	0.333													C|||	1	0.000199681	0	0	5008	,	,		16341	0		0	False		,,,				2504	0.001					uc002tmb.3																			0											c.(430-432)Cgg>Tgg		Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	79	80	79		430	3.5	0.2	2	dbSNP_134	79	0,8600		0,0,4300	no	missense	PCDP1	NM_001029996.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/555	120369295	1,13005	2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120369295C>T																												ENST00000413369.3:c.1288C>T	2.37:g.120369295C>T	ENSP00000393222:p.Arg430Trp					PCDP1_uc010yyq.2_Missense_Mutation_p.R274W	p.R144W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			13	1542	+	Colorectal(110;0.196)		430						Missense_Mutation	SNP	ENST00000413369.3	37	c.430C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735630	0.49045	2.27E-4	0.0	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20332	2.08	4.39	3.5	0.40072	.	0.204669	0.33364	N	0.004985	T	0.39963	0.1098	M	0.61703	1.905	0.25959	N	0.982658	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12066	-1.0562	10	0.87932	D	0	-18.2702	9.4361	0.38639	0.2121:0.7879:0.0:0.0	.	274;430	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	W	144;430	ENSP00000393222:R430W	ENSP00000295220:R144W	R	+	1	2	AC069154.2	120085765	0.788000	0.28762	0.191000	0.23289	0.020000	0.10135	1.361000	0.34136	1.026000	0.39733	0.650000	0.86243	CGG		0.333	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			T	120369295	C	T	120369295	3	4	10	1	0	0	0	0	1	0	0	0	11572	527	19	1	448	1	PCDP1	2	120369295	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	82852717	120369295	122830078	14	665											
LRP1B	53353	broad.mit.edu	37	chr2	141072506	141072506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacaatgaaatatttacctAgaactgatggtacgcaagtt	15	12	8	6	1	0	4	0	3	0	1	0	4	0	4	1	1	3	3	1	1	8	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:141072506A>G	ENST00000389484.3	-	83	13774	c.12803T>C	c.(12802-12804)cTa>cCa	p.L4268P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATTTACCTAGAACTGATGG	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0		p.L4268I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12802-12804)cTa>cCa		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							107	104	105					2																	141072506		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072506A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12803T>C	2.37:g.141072506A>G	ENSP00000374135:p.Leu4268Pro	TSP Lung(27;0.18)					p.L4268P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	82	13775	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4268			EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12803T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.87|15.87	2.960638|2.960638	0.53400|0.53400	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.92699|.	-3.09|.	5.9|5.9	5.9|5.9	0.94986|0.94986	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.099216|.	0.42172|.	D|.	0.000749|.	T|.	0.59555|.	0.2202|.	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.55535|.	-0.8126|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.3317|16.3317	0.83023|0.83023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4268|.	Q9NZR2|.	LRP1B_HUMAN|.	P|Q	4268;4206|500	ENSP00000374135:L4268P|.	ENSP00000374135:L4268P|.	L|X	-|-	2|1	0|0	LRP1B|LRP1B	140788976|140788976	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.135000|0.135000	0.20990|0.20990	6.773000|6.773000	0.75006|0.75006	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	CTA|TAG		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141072506	A	G	141072506	3	3	10	1	0	0	0	0	1	0	0	0	8955	420	15	4	1032	4	LRP1B	2	141072506	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	20703211	141072506	102126867	15	666											
COBLL1	22837	broad.mit.edu	37	chr2	165578701	165578701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgggggcagtggagcccGcctcttcttgggtgcatccg	4	9	15	13	3	2	0	0	0	2	0	4	1	3	1	3	4	2	2	3	4	0	2	rs199807543	byFrequency	TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:165578701G>A	ENST00000392717.2	-	7	998	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	COBLL1_ENST00000409184.3_Missense_Mutation_p.R332W|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Missense_Mutation_p.R294W|COBLL1_ENST00000194871.6_Missense_Mutation_p.R360W|COBLL1_ENST00000342193.4_Missense_Mutation_p.R294W			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	332						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTGGAGCCCGCCTCTTCTTG	0.522													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		15225	0		0	False		,,,				2504	0					uc002ucp.3																			0		p.R294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(880-882)Cgg>Tgg		Homo sapiens COBL-like 1 (COBLL1), mRNA.							70	73	72					2																	165578701		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165578701G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.994C>T	2.37:g.165578701G>A	ENSP00000376478:p.Arg332Trp					COBLL1_uc002ucq.3_Missense_Mutation_p.R294W|COBLL1_uc010zcw.2_Missense_Mutation_p.R360W|COBLL1_uc010zcx.2_Missense_Mutation_p.R340W|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.R63W	p.R294W	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			5	1102	-			332					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.880C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.7	4.194984	0.78902	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.95	4.99	0.66335	Cordon-bleu domain (1);	0.047169	0.85682	D	0.000000	D	0.95981	0.8691	M	0.80982	2.52	0.51767	D	0.999934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96092	0.9062	10	0.87932	D	0	-2.7328	16.1577	0.81677	0.0:0.0:0.8022:0.1978	.	332;360;332	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	W	294;294;332;332;360	ENSP00000364607:R294W;ENSP00000341360:R294W;ENSP00000387326:R332W;ENSP00000376478:R332W;ENSP00000194871:R360W	ENSP00000194871:R360W	R	-	1	2	COBLL1	165286947	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.603000	0.46266	2.826000	0.97356	0.563000	0.77884	CGG		0.522	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		A	165578701	G	A	165578701	3	1	10	1	0	0	0	0	1	0	0	0	3654	1086	38	1	2656	1	COBLL1	2	165578701	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	24506195	165578701	77620672	16	667											
SCN1A	6323	broad.mit.edu	37	chr2	166850847	166850847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccatcattgtgaccatgTtaagacagatgagaatcatg	14	10	8	9	0	2	4	2	2	0	3	2	5	2	4	3	0	0	1	3	0	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:166850847T>C	ENST00000303395.4	-	25	4660	c.4661A>G	c.(4660-4662)aAc>aGc	p.N1554S	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1526S|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1554S|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1543S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1554					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGACCATGTTAAGACAGAT	0.378																																						uc002udo.4																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4660-4662)aAc>aGc		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						142	119	127					2																	166850847		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850847T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4661A>G	2.37:g.166850847T>C	ENSP00000303540:p.Asn1554Ser					SCN1A_uc010fpk.3_Missense_Mutation_p.N1526S|SCN1A_uc021vsb.1_Missense_Mutation_p.N1543S	p.N1554S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN			26	4888	-			1554					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4661A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785844	0.90282	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.98407	4.225	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99044	1.0825	10	0.56958	D	0.05	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	1543	P35498-2	.	S	1554;1554;1543;1526	ENSP00000407030:N1554S;ENSP00000303540:N1554S;ENSP00000364554:N1543S;ENSP00000386312:N1526S	ENSP00000303540:N1554S	N	-	2	0	SCN1A	166559093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.907000	0.87430	2.251000	0.74343	0.528000	0.53228	AAC		0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		C	166850847	T	C	166850847	3	2	10	1	0	0	0	0	1	0	0	0	13914	1725	60	4	1376	4	SCN1A	2	166850847	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08	1272146	166850847	76348526	17	668											
TTN	7273	broad.mit.edu	37	chr2	179476875	179476875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccactgccagggcgtaggGtggtccaggagtggctgaaa	10	6	16	9	1	0	1	0	1	0	0	1	2	1	2	3	5	2	2	3	5	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179476875G>C	ENST00000591111.1	-	217	45564	c.45340C>G	c.(45340-45342)Ccc>Gcc	p.P15114A	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7690A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7882A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7815A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14187A|TTN_ENST00000589042.1_Missense_Mutation_p.P16755A			Q8WZ42	TITIN_HUMAN	titin	15114	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGCGTAGGGTGGTCCAGGA	0.418																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42559-42561)Ccc>Gcc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							77	69	71					2																	179476875		1889	4102	5991	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476875G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45340C>G	2.37:g.179476875G>C	ENSP00000465570:p.Pro15114Ala					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7882A|TTN_uc021vta.1_Missense_Mutation_p.P7815A|TTN_uc021vtb.1_Missense_Mutation_p.P7690A	p.P14187A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		215	42784	-			15114			Fibronectin type-III 2.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.42559C>G		.	.	.	.	.	.	.	.	.	.	G	13.59	2.283727	0.40394	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91536	0.7327	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91398	0.5141	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	7690;7815;7882;15114	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14187;7690;7882;7815;7690	ENSP00000343764:P14187A;ENSP00000434586:P7690A;ENSP00000340554:P7882A;ENSP00000352154:P7815A	ENSP00000340554:P7882A	P	-	1	0	TTN	179185120	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179476875	G	C	179476875	3	2	10	1	0	0	0	0	1	0	0	0	16732	1261	44	5	57814	5	TTN	2	179476875	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	12626028	179476875	63722498	18	669											
TTN	7273	broad.mit.edu	37	chr2	179597777	179597777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaattttgcagtccaGtctgcaggtaccattaacaa	11	11	8	11	0	1	0	0	0	1	0	2	0	2	0	3	1	5	4	3	1	4	4	rs72648936		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179597777G>A	ENST00000591111.1	-	53	15399	c.15175C>T	c.(15175-15177)Ctg>Ttg	p.L5059L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L4132L|TTN_ENST00000589042.1_Silent_p.L5376L			Q8WZ42	TITIN_HUMAN	titin	12432	Ig-like 31.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAGTCCAGTCTGCAGGTA	0.468																																						uc021vsy.1																			0		p.R4131I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12394-12396)Ctg>Ttg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	0,3876		0,0,1938	67	63	64		,12394,,	0.2	1	2	dbSNP_130	64	1,8295		0,1,4147	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6085	AA,AG,GG		0.0121,0.0,0.0082	,,,	,4132/33424,,	179597777	1,12171	1938	4148	6086	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597777G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15175C>T	2.37:g.179597777G>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L793L	p.L4132L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		51	12619	-			5059					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.12394C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179597777	G	A	179597777	2	1	10	1	0	0	0	0	0	0	0	1	16732	1020	36	3		3	TTN	2	179597777	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	120902	179597777	63601596	19	670											
TTN	7273	broad.mit.edu	37	chr2	179599243	179599243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagctaatttcaaatGgtccagtgcctgagacttca	12	11	8	10	0	2	2	2	2	0	1	3	3	3	2	3	1	3	1	3	1	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179599243G>A	ENST00000591111.1	-	50	14581	c.14357C>T	c.(14356-14358)cCa>cTa	p.P4786L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3859L|TTN_ENST00000589042.1_Missense_Mutation_p.P5103L			Q8WZ42	TITIN_HUMAN	titin	12167	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCAAATGGTCCAGTGCC	0.393																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11575-11577)cCa>cTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87	87	87					2																	179599243		1852	4106	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599243G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14357C>T	2.37:g.179599243G>A	ENSP00000465570:p.Pro4786Leu					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P520L	p.P3859L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	11801	-			4786					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11576C>T		.	.	.	.	.	.	.	.	.	.	G	14.26	2.482992	0.44147	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84334	0.5449	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85736	0.1334	9	0.87932	D	0	.	19.9731	0.97292	0.0:0.0:1.0:0.0	.	4786	Q8WZ42	TITIN_HUMAN	L	3859	ENSP00000343764:P3859L	ENSP00000343764:P3859L	P	-	2	0	TTN	179307488	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	9.476000	0.97823	2.715000	0.92844	0.563000	0.77884	CCA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179599243	G	A	179599243	3	1	10	1	0	0	0	0	1	0	0	0	16732	1348	47	3	89465	3	TTN	2	179599243	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	1466	179599243	63600130	20	671											
IHH	3549	broad.mit.edu	37	chr2	219920562	219920562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggcagggaagcagccGcccgtcttggctgcggccga	5	5	16	15	5	1	0	0	0	1	0	2	2	2	1	4	4	3	4	4	4	1	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:219920562G>A	ENST00000295731.6	-	3	602	c.603C>T	c.(601-603)ggC>ggT	p.G201G	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	201					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCAGCCGCCCGTCTTGG	0.672																																						uc002vjo.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(601-603)ggC>ggT		Homo sapiens Indian hedgehog (IHH), mRNA.							17	18	18					2																	219920562		2198	4295	6493	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920562G>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.603C>T	2.37:g.219920562G>A							p.G201G	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	652	-		Renal(207;0.0915)	201					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.603C>T	CCDS33380.1																																																																																				0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		A	219920562	G	A	219920562	2	1	10	1	0	0	0	0	0	0	0	1	7607	1074	38	1		1	IHH	2	219920562	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	40321319	219920562	23278811	21	672											
ACCN4	55515	broad.mit.edu	37	chr2	220396799	220396799	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctacatccaccagctgggGttcggggtgtccccaggctt	5	9	12	15	1	0	0	0	0	0	0	3	0	2	0	5	5	2	3	5	5	1	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:220396799G>C	ENST00000347842.3	+	3	1199	c.1185G>C	c.(1183-1185)ggG>ggC	p.G395G	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Silent_p.G395G	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	395					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										ACCAGCTGGGGTTCGGGGTGT	0.617																																						uc002vlz.3																			0											c.(1183-1185)ggG>ggC		Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.							71	77	75					2																	220396799		2203	4300	6503	SO:0001819	synonymous_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396799G>C	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1185G>C	2.37:g.220396799G>C						ASIC4_uc010fwi.2_Silent_p.G395G|ASIC4_uc010fwj.2_Silent_p.G395G|ASIC4_uc002vly.2_Silent_p.G395G|ASIC4_uc002vma.3_Silent_p.G395G|ASIC4_uc002vmb.3_Silent_p.G49G	p.G395G	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN			2	1359	+			395					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.1185G>C	CCDS2442.1																																																																																				0.617	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		C	220396799	G	C	220396799	2	2	10	1	0	0	0	0	0	0	0	1	131	1248	44	5		5	ACCN4	2	220396799	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	476237	220396799	22802574	22	673											
GIGYF2	26058	broad.mit.edu	37	chr2	233710565	233710565	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtgaacagatgctTcatgcccttaatacggcaaa	12	10	10	9	1	1	2	1	1	0	1	1	2	1	2	1	2	4	2	1	2	4	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:233710565T>C	ENST00000409547.1	+	28	3740	c.3429T>C	c.(3427-3429)ctT>ctC	p.L1143L	GIGYF2_ENST00000409196.3_Silent_p.L1137L|GIGYF2_ENST00000373566.3_Silent_p.L1165L|GIGYF2_ENST00000409480.1_Silent_p.L1165L|GIGYF2_ENST00000409451.3_Silent_p.L1164L|GIGYF2_ENST00000373563.4_Silent_p.L1143L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1143					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACAGATGCTTCATGCCCTTA	0.453																																						uc002vtj.4																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3490-3492)ctT>ctC		Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.							98	94	96					2																	233710565		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233710565T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3429T>C	2.37:g.233710565T>C						GIGYF2_uc002vti.4_Silent_p.L1143L|GIGYF2_uc002vtk.4_Silent_p.L1143L|GIGYF2_uc002vth.4_Silent_p.L1137L|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Silent_p.L476L	p.L1164L	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3759	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1143					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3492T>C	CCDS33401.1																																																																																				0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		C	233710565	T	C	233710565	2	2	10	1	0	0	0	0	0	0	0	1	6378	1770	62	4		4	GIGYF2	2	233710565	Silent	SNP	T	TCGA-06-0122-01A-01D-1490-08	13313766	233710565	9488808	23	674											
UGT1A6	54578	broad.mit.edu	37	chr2	234602272	234602272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacatgactttttcccaaCgagtggccaacttccttgtt	9	13	6	13	1	0	1	0	1	0	0	2	2	2	1	4	1	2	1	4	1	2	5	rs571650145		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:234602272C>T	ENST00000305139.6	+	1	761	c.622C>T	c.(622-624)Cga>Tga	p.R208*	AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	208					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTTTTCCCAACGAGTGGCCAA	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		21928	0		0	False		,,,				2504	0					uc002vuv.4																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(622-624)Cga>Tga		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						146	142	144					2																	234602272		2203	4300	6503	SO:0001587	stop_gained	54578				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234602272C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.622C>T	2.37:g.234602272C>T	ENSP00000303174:p.Arg208*					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Nonsense_Mutation_p.R208*	p.R208*	NM_001072	NP_001063	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	761	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	209					A6NKK6|B8K289|Q96TE7	Nonsense_Mutation	SNP	ENST00000305139.6	37	c.622C>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853397	0.91355	.	.	ENSG00000167165	ENST00000305139	.	.	.	5.31	0.957	0.19613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.892	0.79305	0.4485:0.5515:0.0:0.0	.	.	.	.	X	208	.	ENSP00000303174:R208X	R	+	1	2	UGT1A6	234267011	0.019000	0.18553	0.225000	0.23894	0.563000	0.35712	-0.265000	0.08644	0.331000	0.23511	0.655000	0.94253	CGA		0.448	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		T	234602272	C	T	234602272	4	4	10	1	0	0	0	0	0	1	0	0	16946	528	19	1	624	1	UGT1A6	2	234602272	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	891707	234602272	8597101	24	675											
OR5K3	403277	broad.mit.edu	37	chr3	98109856	98109856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagactgctttcttctggCggcaatggcctatgactgct	7	13	10	11	1	2	2	0	1	2	1	2	2	2	2	1	3	3	3	1	3	3	4	rs200376148	byFrequency	TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:98109856C>T	ENST00000383695.1	+	1	347	c.347C>T	c.(346-348)gCg>gTg	p.A116V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTCTTCTGGCGGCAATGGCC	0.453													c|||	2	0.000399361	0	0	5008	,	,		21426	0		0	False		,,,				2504	0.002					uc011bgw.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(346-348)gCg>gTg		Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.		T	VAL/ALA	0,4406		0,0,2203	177	172	174		347	4.3	1	3		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5K3	NM_001005516.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/322	98109856	1,13005	2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109856C>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.347C>T	3.37:g.98109856C>T	ENSP00000373194:p.Ala116Val						p.A116V	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			0	347	+			116						Missense_Mutation	SNP	ENST00000383695.1	37	c.347C>T	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.813785	0.50527	0.0	1.16E-4	ENSG00000206536	ENST00000383695	T	0.00375	7.71	5.15	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.153342	0.30356	N	0.009818	T	0.00695	0.0023	L	0.58925	1.835	0.21147	N	0.999779	D	0.69078	0.997	D	0.65443	0.935	T	0.50816	-0.8783	10	0.59425	D	0.04	-24.9727	12.0563	0.53538	0.0:0.9147:0.0:0.0853	.	116	A6NET4	OR5K3_HUMAN	V	116	ENSP00000373194:A116V	ENSP00000373194:A116V	A	+	2	0	OR5K3	99592546	0.000000	0.05858	0.990000	0.47175	0.807000	0.45602	0.215000	0.17562	1.289000	0.44618	-0.175000	0.13238	GCG		0.453	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			T	98109856	C	T	98109856	3	4	10	1	0	0	0	0	1	0	0	0	11168	768	27	1	349	1	OR5K3	3	98109856	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		98109856	99912574	25	676											
RTP1	132112	broad.mit.edu	37	chr3	186917654	186917654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgaggcctgccaggaGggcatcgtgcactggaagcc	7	7	15	12	2	1	0	0	0	1	0	2	3	1	2	3	4	4	2	3	4	1	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:186917654G>A	ENST00000312295.4	+	2	618	c.588G>A	c.(586-588)gaG>gaA	p.E196E	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	196					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCTGCCAGGAGGGCATCGTGC	0.692																																						uc003frg.3																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(586-588)gaG>gaA		Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.							41	39	40					3																	186917654		2203	4300	6503	SO:0001819	synonymous_variant	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917654G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.588G>A	3.37:g.186917654G>A							p.E196E	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	618	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		196						Silent	SNP	ENST00000312295.4	37	c.588G>A	CCDS3287.2																																																																																				0.692	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		A	186917654	G	A	186917654	2	1	10	1	0	0	0	0	0	0	0	1	13733	991	35	3		3	RTP1	3	186917654	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	88807798	186917654	11104776	26	677											
ADAMTS16	170690	broad.mit.edu	37	chr5	5262831	5262831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagtaaatatgtccttCtgcaatcccaagacacgacc	13	11	5	12	1	2	1	1	0	1	1	4	2	4	1	3	0	1	2	3	0	6	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:5262831C>A	ENST00000274181.7	+	18	2862	c.2724C>A	c.(2722-2724)ttC>ttA	p.F908L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	908	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATATGTCCTTCTGCAATCCCA	0.498																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2722-2724)ttC>ttA		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							97	102	100					5																	5262831		1987	4147	6134	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262831C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2724C>A	5.37:g.5262831C>A	ENSP00000274181:p.Phe908Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.F908L	p.F908L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2862	+			908			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2724C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824214	0.32237	.	.	ENSG00000145536	ENST00000274181	T	0.59502	0.26	5.22	4.23	0.50019	.	0.128309	0.53938	N	0.000053	T	0.42471	0.1204	L	0.53561	1.675	0.41453	D	0.987991	P;B	0.44429	0.835;0.009	B;B	0.32677	0.15;0.018	T	0.34750	-0.9816	10	0.22109	T	0.4	.	8.3997	0.32579	0.0:0.8559:0.0:0.144	.	908;908	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	908	ENSP00000274181:F908L	ENSP00000274181:F908L	F	+	3	2	ADAMTS16	5315831	1.000000	0.71417	0.991000	0.47740	0.470000	0.32858	2.394000	0.44450	2.440000	0.82611	0.655000	0.94253	TTC		0.498	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		A	5262831	C	A	5262831	3	1	10	1	0	0	0	0	1	0	0	0	261	912	32	5	2794	5	ADAMTS16	5	5262831	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		5262831	175652429	27	678											
PAPD7	11044	broad.mit.edu	37	chr5	6737716	6737717	+	Frame_Shift_Del	DEL	TG	TG	-																															gtggtgaaacggatcgaaacTgtggtgaaagacctttggcc																										TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:6737716_6737717delTG	ENST00000230859.6	+	2	189_190	c.60_61delTG	c.(58-63)actgtgfs	p.V22fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	252					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGATCGAAACTGTGGTGAAAGA	0.436																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1																			0		p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(58-63)actgtgfs		Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6737716_6737717delTG	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.60_61delTG	5.37:g.6737718_6737719delTG	ENSP00000230859:p.Val22fs					PAPD7_uc011cmn.2_Frame_Shift_Del_p.T20fs	p.T20fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN			1	189_190	+			20					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.60_61delTG	CCDS3871.1																																																																																				0.436	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		-	6737717	TG	-	6737716	7	5	10	1	0	1	0	1	0	0	0	0	11426	1567	55	0	62	0	PAPD7	5	6737716	Frame_Shift_Del	DEL	TG	TCGA-06-0122-01A-01D-1490-08	1474885	6737716	174177544	28	679											
NIPBL	25836	broad.mit.edu	37	chr5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-																															gaacctgctatgcggaacaaGgctgatcagcaacttgtgga																										TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:37051937delG	ENST00000282516.8	+	41	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318																																						uc003jkl.4																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7009-7011)aagfs		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							84	89	87					5																	37051937		2203	4300	6503	SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051937delG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7011delG	5.37:g.37051937delG	ENSP00000282516:p.Lys2337fs					NIPBL_uc003jkk.4_Frame_Shift_Del_p.K2337fs|NIPBL_uc003jkn.3_Frame_Shift_Del_p.K30fs	p.K2337fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		40	7510	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2337					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.7011delG	CCDS3920.1																																																																																				0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	37051937	G	-	37051937	7	5	10	1	0	1	0	1	0	0	0	0	10428	991	35	0	7169	0	NIPBL	5	37051937	Frame_Shift_Del	DEL	G	TCGA-06-0122-01A-01D-1490-08	30314221	37051937	143863323	29	680											
HCN1	348980	broad.mit.edu	37	chr5	45462085	45462085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctcaccactgcactggCgagatcatatgtcatgtgga	11	11	9	10	1	3	1	3	0	1	1	4	3	3	2	1	2	1	1	1	2	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:45462085C>G	ENST00000303230.4	-	3	931	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	292					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTGCACTGGCGAGATCATAT	0.378																																						uc003jok.3																			0		p.A292A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(874-876)Gcc>Ccc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							65	64	65					5																	45462085		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462085C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.874G>C	5.37:g.45462085C>G	ENSP00000307342:p.Ala292Pro						p.A292P	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	899	-			292						Missense_Mutation	SNP	ENST00000303230.4	37	c.874G>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513013	0.96402	.	.	ENSG00000164588	ENST00000303230	D	0.98567	-5.0	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.98264	0.9425	M	0.80508	2.5	0.80722	D	1	P	0.42735	0.788	P	0.45946	0.498	D	0.99525	1.0959	10	0.87932	D	0	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	292	O60741	HCN1_HUMAN	P	292	ENSP00000307342:A292P	ENSP00000307342:A292P	A	-	1	0	HCN1	45497842	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	7.809000	0.86057	2.718000	0.92993	0.650000	0.86243	GCC		0.378	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		G	45462085	C	G	45462085	3	3	10	1	0	0	0	0	1	0	0	0	6996	768	27	5	1822	5	HCN1	5	45462085	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	8410148	45462085	135453175	30	681											
PCDHB4	56131	broad.mit.edu	37	chr5	140502131	140502131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattctcactcgaaatcAtagtgagggcaagaaatacc	15	9	7	10	1	3	2	3	1	1	1	5	3	3	2	1	1	1	1	1	1	5	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:140502131A>T	ENST00000194152.1	+	1	551	c.551A>T	c.(550-552)cAt>cTt	p.H184L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGAAATCATAGTGAGGGC	0.478																																						uc003lip.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(550-552)cAt>cTt		Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.							71	69	69					5																	140502131		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502131A>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.551A>T	5.37:g.140502131A>T	ENSP00000194152:p.His184Leu						p.H184L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	551	+			184			Cadherin 2.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.551A>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	A	9.313	1.056113	0.19907	.	.	ENSG00000081818	ENST00000194152	T	0.18174	2.23	4.56	2.23	0.28157	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08891	0.0220	N	0.10837	0.055	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.32428	-0.9907	9	0.32370	T	0.25	.	7.9908	0.30239	0.7604:0.0:0.2396:0.0	.	184	Q9Y5E5	PCDB4_HUMAN	L	184	ENSP00000194152:H184L	ENSP00000194152:H184L	H	+	2	0	PCDHB4	140482315	0.000000	0.05858	0.739000	0.30968	0.808000	0.45660	0.403000	0.20982	0.885000	0.36088	0.533000	0.62120	CAT		0.478	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140502131	A	T	140502131	3	4	10	1	0	0	0	0	1	0	0	0	11544	217	8	5	553	5	PCDHB4	5	140502131	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	95040046	140502131	40413129	31	682											
EZR	7430	broad.mit.edu	37	chr6	159206603	159206603	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggattctccttcctgacctCctgggcagacacctgcacga	7	9	10	15	1	1	2	0	1	1	1	4	4	3	3	5	2	1	2	5	2	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr6:159206603C>A	ENST00000367075.3	-	5	373	c.205G>T	c.(205-207)Gag>Tag	p.E69*	EZR_ENST00000392177.4_Nonsense_Mutation_p.E37*|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Nonsense_Mutation_p.E69*	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGACCTCCTGGGCAGAC	0.537			T	ROS1	NSCLC																																	uc003qrt.4				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(205-207)Gag>Tag		Homo sapiens ezrin (EZR), transcript variant 1, mRNA.							49	47	48					6																	159206603		2203	4300	6503	SO:0001587	stop_gained	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206603C>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.205G>T	6.37:g.159206603C>A	ENSP00000356042:p.Glu69*					EZR_uc011efs.2_Nonsense_Mutation_p.E37*|EZR_uc003qru.4_Nonsense_Mutation_p.E69*	p.E69*	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	3	420	-		Breast(66;0.000776)|Ovarian(120;0.0303)	69			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Nonsense_Mutation	SNP	ENST00000367075.3	37	c.205G>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001708	0.97189	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	.	.	.	4.98	4.98	0.66077	.	0.147672	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4371	0.90650	0.0:1.0:0.0:0.0	.	.	.	.	X	69;69;37	.	ENSP00000338934:E69X	E	-	1	0	EZR	159126591	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.806000	0.69150	2.579000	0.87056	0.650000	0.86243	GAG		0.537	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		A	159206603	C	A	159206603	4	1	10	1	0	0	0	0	0	1	0	0	5335	864	30	5	1595	5	EZR	6	159206603	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		159206603	11908464	32	683											
VOPP1	81552	broad.mit.edu	37	chr7	55588786	55588786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tataataggttggatagagtCcttcgaaataccagcaatgc	14	11	9	7	1	0	1	0	0	0	1	2	3	1	2	2	2	3	2	2	2	7	7			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:55588786C>T	ENST00000285279.5	-	2	292	c.92G>A	c.(91-93)gGa>gAa	p.G31E	VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000418904.1_Missense_Mutation_p.G14E|VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000454227.1_5'UTR|VOPP1_ENST00000427700.1_Missense_Mutation_p.G29E|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000433959.1_Missense_Mutation_p.G22E|VOPP1_ENST00000545390.1_Missense_Mutation_p.G28E	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	31					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						TGGATAGAGTCCTTCGAAATA	0.408																																						uc003tqs.3																			0				endometrium(1)|lung(4)	5						c.(91-93)gGa>gAa		Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.							75	76	76					7																	55588786		1890	4116	6006	SO:0001583	missense	81552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	g.chr7:55588786C>T		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"Glioblastoma-amplified secreted protein", "EGFR-coamplified and overexpressed protein"	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.92G>A	7.37:g.55588786C>T	ENSP00000285279:p.Gly31Glu					VOPP1_uc003tqq.3_Missense_Mutation_p.G22E|VOPP1_uc010kzh.3_Missense_Mutation_p.G28E|VOPP1_uc010kzi.3_Missense_Mutation_p.G14E|VOPP1_uc011kcr.2_5'UTR	p.G31E	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN			1	275	-			31					B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	c.92G>A	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226883	0.79576	.	.	ENSG00000154978	ENST00000285279;ENST00000433959;ENST00000545390;ENST00000418904;ENST00000427700	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	T	0.77075	0.4077	M	0.64997	1.995	0.48288	D	0.999629	D;D;D;P	0.89917	1.0;1.0;1.0;0.9	D;D;D;P	0.91635	0.998;0.999;0.999;0.466	T	0.77968	-0.2388	8	0.72032	D	0.01	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	14;28;31;22	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	E	31;22;28;14;29	.	ENSP00000285279:G31E	G	-	2	0	VOPP1	55556280	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.478000	0.60230	2.779000	0.95612	0.655000	0.94253	GGA		0.408	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796		T	55588786	C	T	55588786	3	4	10	1	0	0	0	0	1	0	0	0	17181	855	30	3	442	3	VOPP1	7	55588786	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		55588786	103549877	33	684											
PCLO	27445	broad.mit.edu	37	chr7	82390725	82390725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatatttctgcattggAgaatttcaactattagttgt	12	18	7	4	0	2	1	1	0	1	1	2	2	2	1	0	1	2	3	0	1	6	8			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82390725A>G	ENST00000333891.9	-	23	15429	c.15092T>C	c.(15091-15093)cTc>cCc	p.L5031P		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGCATTGGAGAATTTCAAC	0.308																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(15091-15093)cTc>cCc		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							123	111	115					7																	82390725		1805	4053	5858	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82390725A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15092T>C	7.37:g.82390725A>G	ENSP00000334319:p.Leu5031Pro						p.L5031P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			22	15381	-			4954			C2 2.			Missense_Mutation	SNP	ENST00000333891.9	37	c.15092T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428666	0.43122	.	.	ENSG00000186472	ENST00000333891	T	0.71461	-0.57	5.33	5.33	0.75918	.	0.000000	0.39274	U	0.001404	D	0.85492	0.5709	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88112	0.2826	10	0.87932	D	0	.	15.3054	0.73987	1.0:0.0:0.0:0.0	.	5031	Q9Y6V0-5	.	P	5031	ENSP00000334319:L5031P	ENSP00000334319:L5031P	L	-	2	0	PCLO	82228661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	1.999000	0.58509	0.528000	0.53228	CTC		0.308	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82390725	A	G	82390725	3	3	10	1	0	0	0	0	1	0	0	0	11583	304	11	4	348	4	PCLO	7	82390725	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	26801939	82390725	76747938	34	685											
PCLO	27445	broad.mit.edu	37	chr7	82586181	82586181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcggaagaatatcccGtgtcgctcagaccttggggg	8	10	12	11	3	1	2	1	0	0	2	5	3	3	3	3	3	0	1	3	3	3	3	rs370195239		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82586181G>A	ENST00000333891.9	-	5	4425	c.4088C>T	c.(4087-4089)aCg>aTg	p.T1363M	PCLO_ENST00000423517.2_Missense_Mutation_p.T1363M	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T1363M(2)|p.T1294M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAATATCCCGTGTCGCTCAG	0.428																																						uc003uhx.2																			3	Substitution - Missense(3)	p.T1363M(3)|p.T1294M(1)	large_intestine(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4087-4089)aCg>aTg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							54	52	53					7																	82586181		1856	4089	5945	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586181G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4088C>T	7.37:g.82586181G>A	ENSP00000334319:p.Thr1363Met					PCLO_uc003uhv.2_Missense_Mutation_p.T1363M	p.T1363M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4377	-			1294						Missense_Mutation	SNP	ENST00000333891.9	37	c.4088C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156894	0.38119	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23754	1.89;1.9	5.67	5.67	0.87782	.	.	.	.	.	T	0.54870	0.1885	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.56685	-0.7938	9	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1363;1363	Q9Y6V0-5;Q9Y6V0-6	.;.	M	1294;1363;1363	ENSP00000334319:T1363M;ENSP00000388393:T1363M	ENSP00000334319:T1363M	T	-	2	0	PCLO	82424117	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.524000	0.81866	2.659000	0.90383	0.655000	0.94253	ACG		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82586181	G	A	82586181	3	1	10	1	0	0	0	0	1	0	0	0	11583	1145	40	1	11441	1	PCLO	7	82586181	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	195456	82586181	76552482	35	686											
TFEC	22797	broad.mit.edu	37	chr7	115614228	115614228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgaaagcacttactgttCtttgcattagcagaggagag	11	12	11	7	0	2	3	0	1	2	2	2	4	2	3	0	1	4	4	0	1	3	4	rs367653280		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:115614228C>T	ENST00000265440.7	-	3	443	c.263G>A	c.(262-264)aGa>aAa	p.R88K	TFEC_ENST00000320239.7_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.R178K|TFEC_ENST00000393485.1_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	88	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTTACTGTTCTTTGCATTAG	0.358																																						uc003vhj.2																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(262-264)aGa>aAa		Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.		C	,LYS/ARG	1,4405		0,1,2202	88	81	83		,263	3.9	1	7		83	0,8598		0,0,4299	no	intron,missense	TFEC	NM_001018058.2,NM_012252.3	,26	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,benign	,88/348	115614228	1,13003	2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115614228C>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.263G>A	7.37:g.115614228C>T	ENSP00000265440:p.Arg88Lys					TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Missense_Mutation_p.R178K	p.R88K	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	516	-			88			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.263G>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.363953	0.11296	2.27E-4	0.0	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.16743	2.32;2.59	4.77	3.87	0.44632	.	0.463760	0.21403	N	0.075111	T	0.12347	0.0300	L	0.40543	1.245	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.15052	0.012;0.001	T	0.04900	-1.0919	10	0.06099	T	0.92	-2.9826	11.6139	0.51078	0.0:0.9151:0.0:0.0849	.	178;88	B7Z757;O14948	.;TFEC_HUMAN	K	88;178	ENSP00000265440:R88K;ENSP00000417432:R178K	ENSP00000265440:R88K	R	-	2	0	TFEC	115401464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.302000	0.33459	0.971000	0.38288	0.650000	0.86243	AGA		0.358	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		T	115614228	C	T	115614228	3	4	10	1	0	0	0	0	1	0	0	0	15799	913	32	3	804	3	TFEC	7	115614228	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	33028047	115614228	43524435	36	687											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259316	147259316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgatggcagcggacctCtggggcctctgaaagtttac	8	10	12	11	1	2	2	0	2	2	0	3	3	3	3	3	4	2	2	3	4	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:147259316C>T	ENST00000361727.3	+	12	2380	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	622	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCGGACCTCTGGGGCCTCT	0.408										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1864-1866)Ctg>Ttg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							109	107	107					7																	147259316		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259316C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1864C>T	7.37:g.147259316C>T		HNSCC(39;0.1)					p.L622L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2380	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	622			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1864C>T	CCDS5889.1																																																																																				0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147259316	C	T	147259316	2	4	10	1	0	0	0	0	0	0	0	1	3647	912	32	3		3	CNTNAP2	7	147259316	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	31645088	147259316	11879347	37	688											
DEFB135	613209	broad.mit.edu	37	chr8	11842018	11842018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccaaaatgtctaaaaaaCgaacaatatcgtattttgtg	16	11	7	7	3	1	0	0	0	1	0	2	1	1	0	1	1	2	1	1	1	9	5	rs368213237		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:11842018C>G	ENST00000382208.2	+	2	153	c.153C>G	c.(151-153)aaC>aaG	p.N51K		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	51					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						GTCTAAAAAACGAACAATATC	0.383																																						uc003wuw.1																			0				endometrium(1)|large_intestine(2)|prostate(1)	4						c.(151-153)aaC>aaG		Homo sapiens defensin, beta 135 (DEFB135), mRNA.							112	110	110					8																	11842018		1873	4099	5972	SO:0001583	missense	613209				defense response to bacterium	extracellular region		g.chr8:11842018C>G	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"Defensins, beta"	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.153C>G	8.37:g.11842018C>G	ENSP00000371643:p.Asn51Lys						p.N51K	NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN			1	153	+			51					Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	c.153C>G	CCDS43710.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.333912	0.00227	.	.	ENSG00000205883	ENST00000382208	T	0.12774	2.65	3.34	-6.69	0.01772	.	2.984760	0.01352	N	0.011936	T	0.05502	0.0145	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32587	-0.9901	9	0.07644	T	0.81	0.031	6.3935	0.21599	0.5751:0.0856:0.0:0.3393	.	51	Q30KP9	DB135_HUMAN	K	51	ENSP00000371643:N51K	ENSP00000371643:N51K	N	+	3	2	DEFB135	11879427	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.156000	0.00146	-2.204000	0.00743	-4.834000	0.00003	AAC		0.383	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		G	11842018	C	G	11842018	3	3	10	1	0	0	0	0	1	0	0	0	4419	535	19	5	159	5	DEFB135	8	11842018	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		11842018	134522004	38	689											
SLCO5A1	81796	broad.mit.edu	37	chr8	70667821	70667821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcttttttgggaaagtaaAcattgggaatatcacaagaa	17	11	9	4	0	1	1	1	0	0	1	1	3	1	3	0	2	2	2	0	2	8	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:70667821A>T	ENST00000260126.4	-	4	1802	c.1096T>A	c.(1096-1098)Ttt>Att	p.F366I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.F366I|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.F366I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	366						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGAAAGTAAACATTGGGAAT	0.353																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1096-1098)Ttt>Att		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							61	63	62					8																	70667821		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667821A>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1096T>A	8.37:g.70667821A>T	ENSP00000260126:p.Phe366Ile					SLCO5A1_uc010lzb.3_Missense_Mutation_p.F366I|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.F366I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F366I	p.F366I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1803	-	Breast(64;0.0654)		366					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1096T>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866108	0.91511	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.60424	0.19;0.19;0.19	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.63169	1.94	0.80722	D	1	D;D;D;P	0.89917	0.972;1.0;0.988;0.849	P;D;D;P	0.87578	0.906;0.998;0.914;0.555	T	0.74985	-0.3477	10	0.54805	T	0.06	.	15.3968	0.74801	1.0:0.0:0.0:0.0	.	366;366;366;366	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	I	366	ENSP00000260126:F366I;ENSP00000434422:F366I;ENSP00000431611:F366I	ENSP00000260126:F366I	F	-	1	0	SLCO5A1	70830375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.047000	0.93823	2.215000	0.71742	0.460000	0.39030	TTT		0.353	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		T	70667821	A	T	70667821	3	4	10	1	0	0	0	0	1	0	0	0	14731	43	2	5	1478	5	SLCO5A1	8	70667821	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	58825803	70667821	75696201	39	690											
KCNB2	9312	broad.mit.edu	37	chr8	73848476	73848476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgctgcagttccaaaacGtgaggcgcgtggtccagatc	8	8	14	11	4	0	2	0	1	0	1	3	2	2	2	2	2	3	3	2	2	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:73848476G>A	ENST00000523207.1	+	3	1474	c.886G>A	c.(886-888)Gtg>Atg	p.V296M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	296					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V296L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GTTCCAAAACGTGAGGCGCGT	0.527																																						uc003xzb.3																			1	Substitution - Missense(1)	p.V296L(2)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(886-888)Gtg>Atg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							89	87	88					8																	73848476		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848476G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.886G>A	8.37:g.73848476G>A	ENSP00000430846:p.Val296Met						p.V296M	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1474	+	Breast(64;0.137)		296					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.886G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089106	0.94100	.	.	ENSG00000182674	ENST00000523207	D	0.98493	-4.96	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.41097	D	0.000947	D	0.97015	0.9025	L	0.31578	0.945	0.80722	D	1	P	0.52061	0.95	P	0.48921	0.595	D	0.97140	0.9824	10	0.51188	T	0.08	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	296	Q92953	KCNB2_HUMAN	M	296	ENSP00000430846:V296M	ENSP00000430846:V296M	V	+	1	0	KCNB2	74011030	1.000000	0.71417	0.833000	0.33012	0.992000	0.81027	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GTG		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		A	73848476	G	A	73848476	3	1	10	1	0	0	0	0	1	0	0	0	8013	1145	40	1	892	1	KCNB2	8	73848476	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	3180655	73848476	72515546	40	691											
COL22A1	169044	broad.mit.edu	37	chr8	139890128	139890128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcctcgcccacgcccaCggcaaagatgcggatgccag	9	4	13	15	4	0	1	0	0	0	1	1	3	0	2	4	2	3	1	4	2	1	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:139890128C>T	ENST00000303045.6	-	3	969	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	COL22A1_ENST00000435777.1_Missense_Mutation_p.V175M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	175	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V175M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCACGCCCACGGCAAAGATG	0.667										HNSCC(7;0.00092)																												uc003yvd.3																			1	Substitution - Missense(1)	p.V175M(2)	endometrium(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(523-525)Gtg>Atg		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							19	20	20					8																	139890128		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890128C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.523G>A	8.37:g.139890128C>T	ENSP00000303153:p.Val175Met	HNSCC(7;0.00092)					p.V175M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		2	970	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		175			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.523G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601359	0.87055	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.87029	-2.2;-2.2	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.45126	D	0.000398	D	0.95354	0.8492	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96442	0.9327	9	.	.	.	.	17.9372	0.89015	0.0:1.0:0.0:0.0	.	175	Q8NFW1	COMA1_HUMAN	M	175	ENSP00000303153:V175M;ENSP00000387655:V175M	.	V	-	1	0	COL22A1	139959310	1.000000	0.71417	0.979000	0.43373	0.549000	0.35272	5.650000	0.67944	2.446000	0.82766	0.655000	0.94253	GTG		0.667	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139890128	C	T	139890128	3	4	10	1	0	0	0	0	1	0	0	0	3681	536	19	1	4609	1	COL22A1	8	139890128	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	66041652	139890128	6473894	41	692											
LRDD	79751	broad.mit.edu	37	chr11	800589	800589	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgcaaagaactcttcGccctcgaacatctccaccgt	11	7	7	16	4	2	1	0	0	2	1	5	2	2	1	4	1	2	1	4	1	4	1	rs151136652		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:800589G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Silent_p.G665G|PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Silent_p.G665G	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACTCTTCGCCCTCGAACA	0.682																																					Colon(93;848 1468 3270 23355 49636)	uc001lro.2																			0											c.(1993-1995)ggC>ggT		Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.		G	,	0,4398		0,0,2199	59	49	52		1995,1995	-3.8	1	11	dbSNP_134	52	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	PIDD	NM_145886.3,NM_145887.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	665/911,665/894	800589	1,12989	2199	4296	6495	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800589G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800589G>A	Exception_encountered					SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Silent_p.G508G|PIDD_uc001lrm.1_Silent_p.G352G|PIDD_uc001lrn.2_Silent_p.G508G|PIDD_uc001lrk.2_Silent_p.G665G|PIDD_uc001lrp.2_Silent_p.G327G	p.G665G	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN			11	2142	-			665					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000531214.1	37	c.1995C>T	CCDS7715.1																																																																																				0.682	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			A	800589	G	A	800589	1	1	10	0	1	0	0	0	0	0	0	0	8936	1074	38	1		1	LRDD	11	800589	5'Flank	SNP	G	TCGA-06-0122-01A-01D-1490-08		800589	134205927	42	693											
OR56A4	120793	broad.mit.edu	37	chr11	6023920	6023920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcatgatgaacatctggagGaagcaggctgggaagctgat	12	9	14	6	0	2	3	1	3	1	0	2	6	2	6	0	4	3	3	0	4	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6023920G>A	ENST00000330728.4	-	1	504	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGAGGAAGCAGGCTG	0.532																																						uc010qzv.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(457-459)ttC>ttT		Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.							88	81	83					11																	6023920		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023920G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.459C>T	11.37:g.6023920G>A							p.F153F	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	459	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	101					B9EH17	Silent	SNP	ENST00000330728.4	37	c.459C>T	CCDS31404.1																																																																																				0.532	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		A	6023920	G	A	6023920	2	1	10	1	0	0	0	0	0	0	0	1	11135	1165	41	3		3	OR56A4	11	6023920	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	5223331	6023920	128982596	43	694											
TRIM3	10612	broad.mit.edu	37	chr11	6470286	6470286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcgataggctttaaagCagtggttgccagcatcagcc	10	9	13	9	1	1	0	1	0	0	0	1	1	1	0	2	3	5	5	2	3	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6470286C>T	ENST00000525074.1	-	12	2601	c.2207G>A	c.(2206-2208)tGc>tAc	p.C736Y	TRIM3_ENST00000345851.3_Missense_Mutation_p.C736Y|TRIM3_ENST00000537602.1_Missense_Mutation_p.C658Y|TRIM3_ENST00000536344.1_Missense_Mutation_p.C617Y|TRIM3_ENST00000359518.3_Missense_Mutation_p.C736Y	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	736					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C736Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTTAAAGCAGTGGTTGCC	0.562																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.3																			1	Substitution - Missense(1)	p.C736Y(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(2206-2208)tGc>tAc		Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.							84	72	76					11																	6470286		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470286C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2207G>A	11.37:g.6470286C>T	ENSP00000433102:p.Cys736Tyr					TRIM3_uc001mdi.3_Missense_Mutation_p.C736Y|TRIM3_uc010raj.2_Missense_Mutation_p.C617Y|TRIM3_uc009yfd.3_Missense_Mutation_p.C736Y	p.C736Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	12	2603	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	736					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.2207G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016331	0.75161	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.7	4.7	0.59300	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86256	0.1652	10	0.51188	T	0.08	-24.7218	16.3838	0.83490	0.0:1.0:0.0:0.0	.	617;736	F5H2Q8;O75382	.;TRIM3_HUMAN	Y	736;736;725;658;736;617	ENSP00000433102:C736Y;ENSP00000340797:C736Y;ENSP00000441091:C658Y;ENSP00000352508:C736Y;ENSP00000445460:C617Y	ENSP00000337094:C725Y	C	-	2	0	TRIM3	6426862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	2.434000	0.82447	0.563000	0.77884	TGC		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		T	6470286	C	T	6470286	3	4	10	1	0	0	0	0	1	0	0	0	16501	710	25	3	31	3	TRIM3	11	6470286	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	446366	6470286	128536230	44	695											
ANO5	203859	broad.mit.edu	37	chr11	22291917	22291917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactctgagaagctgtataGtcgatgggagcaggatcatg	13	9	13	6	1	2	1	1	1	1	1	3	5	2	3	0	2	3	3	0	2	4	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22291917G>T	ENST00000324559.8	+	18	2275	c.1958G>T	c.(1957-1959)aGt>aTt	p.S653I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	653					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTGTATAGTCGATGGGAG	0.398																																						uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1957-1959)aGt>aTt		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							145	146	146					11																	22291917		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22291917G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1958G>T	11.37:g.22291917G>T	ENSP00000315371:p.Ser653Ile					ANO5_uc001mqj.2_Missense_Mutation_p.S652I	p.S653I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			17	2275	+			653						Missense_Mutation	SNP	ENST00000324559.8	37	c.1958G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711237	0.68730	.	.	ENSG00000171714	ENST00000324559	T	0.64618	-0.11	5.71	3.76	0.43208	.	0.072103	0.85682	D	0.000000	T	0.79695	0.4490	M	0.81239	2.535	0.54753	D	0.999981	D	0.89917	1.0	D	0.77004	0.989	T	0.82366	-0.0493	10	0.66056	D	0.02	.	16.0001	0.80288	0.0:0.2549:0.7451:0.0	.	653	Q75V66	ANO5_HUMAN	I	653	ENSP00000315371:S653I	ENSP00000315371:S653I	S	+	2	0	ANO5	22248493	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.545000	0.60698	0.694000	0.31654	-0.176000	0.13171	AGT		0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		T	22291917	G	T	22291917	3	4	10	1	0	0	0	0	1	0	0	0	700	1029	36	5	2028	5	ANO5	11	22291917	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	15821631	22291917	112714599	45	696											
GAS2	2620	broad.mit.edu	37	chr11	22747846	22747846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatttttcagaatctaccGttgaagaagatcccatgcaa	13	14	6	8	1	2	4	1	1	1	3	3	4	3	4	2	0	2	2	2	0	6	6	rs371383777		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22747846G>A	ENST00000454584.2	+	4	581	c.276G>A	c.(274-276)ccG>ccA	p.P92P	GAS2_ENST00000278187.3_Silent_p.P92P|GAS2_ENST00000433790.1_Silent_p.P92P	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	92	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGAATCTACCGTTGAAGAAGA	0.393																																						uc009yie.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(274-276)ccG>ccA		Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.		G	,,	0,4406		0,0,2203	95	97	96		276,276,276	-0.1	0.6	11		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS2	NM_001143830.1,NM_005256.3,NM_177553.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	92/314,92/314,92/314	22747846	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22747846G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.276G>A	11.37:g.22747846G>A						GAS2_uc001mqm.3_Silent_p.P92P|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.P92P	p.P92P	NM_001143830	NP_808221	O43903	GAS2_HUMAN			3	582	+			92			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	ENST00000454584.2	37	c.276G>A	CCDS7858.1																																																																																				0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		A	22747846	G	A	22747846	2	1	10	1	0	0	0	0	0	0	0	1	6245	1132	40	1		1	GAS2	11	22747846	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	455929	22747846	112258670	46	697											
RAG1	5896	broad.mit.edu	37	chr11	36596452	36596452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgtgtcttccagcaCtgatgttggcattattgatg	10	14	11	6	0	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	3	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:36596452C>T	ENST00000299440.5	+	2	1710	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	533					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTTCCAGCACTGATGTTGGC	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1597-1599)aCt>aTt		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							101	95	97					11																	36596452		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596452C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1598C>T	11.37:g.36596452C>T	ENSP00000299440:p.Thr533Ile					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.T533I	p.T533I	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	1598	+	all_lung(20;0.226)	all_hematologic(20;0.107)	533					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1598C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802991	0.50315	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87571	-2.27;-2.27	5.58	5.58	0.84498	.	0.234707	0.44285	D	0.000469	D	0.91670	0.7367	M	0.81341	2.54	0.44780	D	0.997787	P	0.42010	0.768	P	0.48704	0.587	D	0.92376	0.5909	10	0.87932	D	0	.	19.6271	0.95682	0.0:1.0:0.0:0.0	.	533	P15918	RAG1_HUMAN	I	533	ENSP00000434610:T533I;ENSP00000299440:T533I	ENSP00000299440:T533I	T	+	2	0	RAG1	36553028	0.998000	0.40836	0.912000	0.35992	0.708000	0.40852	3.889000	0.56212	2.649000	0.89929	0.650000	0.86243	ACT		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		T	36596452	C	T	36596452	3	4	10	1	0	0	0	0	1	0	0	0	13003	565	20	3	1600	3	RAG1	11	36596452	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	13848606	36596452	98410064	47	698											
OR4X1	390113	broad.mit.edu	37	chr11	48286015	48286015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatcatcaccaatggCggctccatctccgtagtcag	8	10	9	14	2	4	1	3	1	1	0	6	1	5	1	3	2	1	3	3	2	2	1	rs267602914		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:48286015C>T	ENST00000320048.1	+	1	603	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCACCAATGGCGGCTCCATCT	0.557																																						uc010rht.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(601-603)ggC>ggT		Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.							117	93	101					11																	48286015		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286015C>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.603C>T	11.37:g.48286015C>T							p.G201G	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			0	603	+			201					Q6IF74	Silent	SNP	ENST00000320048.1	37	c.603C>T	CCDS31487.1																																																																																				0.557	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		T	48286015	C	T	48286015	2	4	10	1	0	0	0	0	0	0	0	1	11084	755	27	1		1	OR4X1	11	48286015	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	11689563	48286015	86720501	48	699											
OR5B17	219965	broad.mit.edu	37	chr11	58125932	58125932	+	Frame_Shift_Del	DEL	T	T	-																															caagaagtgcaaaaaagacaTtaaaacttgatataagaaca																										TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:58125932delT	ENST00000357377.3	-	1	610	c.611delA	c.(610-612)aatfs	p.N204fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAAAGACATTAAAACTTGA	0.368																																						uc010rke.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(610-612)aatfs		Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.							69	62	65					11																	58125932		2201	4295	6496	SO:0001589	frameshift_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125932delT	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.611delA	11.37:g.58125932delT	ENSP00000349945:p.Asn204fs						p.N204fs	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			0	611	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	204					Q6IEX1	Frame_Shift_Del	DEL	ENST00000357377.3	37	c.611delA	CCDS31548.1																																																																																				0.368	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		-	58125932	T	-	58125932	7	5	10	1	0	1	0	1	0	0	0	0	11149	1493	52	0	335	0	OR5B17	11	58125932	Frame_Shift_Del	DEL	T	TCGA-06-0122-01A-01D-1490-08	9839917	58125932	76880584	49	700											
FADS3	3995	broad.mit.edu	37	chr11	61647583	61647583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggggctgtaggaacttgCgcacaaaattgagatcttga	13	9	12	7	1	1	2	0	2	1	1	1	4	1	3	0	3	2	3	0	3	4	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:61647583C>T	ENST00000278829.2	-	2	406	c.254G>A	c.(253-255)cGc>cAc	p.R85H	FADS3_ENST00000527697.1_5'UTR|FADS3_ENST00000525588.1_Missense_Mutation_p.R85H|FADS3_ENST00000540820.1_Missense_Mutation_p.R85H	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	85	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGGAACTTGCGCACAAAATT	0.572																																						uc001nsm.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(253-255)cGc>cAc		Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.							103	83	90					11																	61647583		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61647583C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.254G>A	11.37:g.61647583C>T	ENSP00000278829:p.Arg85His						p.R85H	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			1	407	-			85			Cytochrome b5 heme-binding.		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.254G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561078	0.65538	.	.	ENSG00000149485;ENSG00000221968;ENSG00000221968;ENSG00000221968	ENST00000543488;ENST00000278829;ENST00000540820;ENST00000525588	T;T;T	0.80824	-1.42;-1.42;-1.42	4.55	4.55	0.56014	Cytochrome b5 (4);	0.000000	0.64402	U	0.000019	T	0.80270	0.4592	M	0.68728	2.09	0.45307	D	0.998303	P	0.47409	0.895	B	0.42245	0.381	D	0.83686	0.0174	10	0.56958	D	0.05	-6.7927	16.2645	0.82568	0.0:1.0:0.0:0.0	.	85	Q9Y5Q0	FADS3_HUMAN	H	15;85;85;85	ENSP00000278829:R85H;ENSP00000439308:R85H;ENSP00000432206:R85H	ENSP00000442323:R15H	R	-	2	0	FADS1;FADS3	61404159	0.983000	0.35010	1.000000	0.80357	0.534000	0.34807	2.134000	0.42102	2.231000	0.72958	0.561000	0.74099	CGC		0.572	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			T	61647583	C	T	61647583	3	4	10	1	0	0	0	0	1	0	0	0	5367	768	27	1	1127	1	FADS3	11	61647583	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	3521651	61647583	73358933	50	701											
THRSP	7069	broad.mit.edu	37	chr11	77775138	77775138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccatctgtgtggatgtgGaccatgggctgctgccgcgg	5	9	17	10	2	1	0	0	0	1	0	1	2	1	2	3	5	2	2	3	5	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:77775138G>C	ENST00000281030.2	+	1	232	c.211G>C	c.(211-213)Gac>Cac	p.D71H	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	71					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TGTGGATGTGGACCATGGGCT	0.642																																						uc021qnu.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(211-213)Gac>Cac		Homo sapiens thyroid hormone responsive (THRSP), mRNA.							79	81	80					11																	77775138		2200	4292	6492	SO:0001583	missense	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775138G>C	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"SPOT14 homolog (rat)"	601926	"thyroid hormone responsive SPOT14 (rat) homolog", "lipogenic protein 1"	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.211G>C	11.37:g.77775138G>C	ENSP00000281030:p.Asp71His					NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.D71H	p.D71H	NM_003251	NP_003242	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		0	211	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		71					B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	c.211G>C	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151339	0.78001	.	.	ENSG00000151365	ENST00000281030	.	.	.	4.96	4.96	0.65561	.	0.529823	0.17827	N	0.160670	T	0.71143	0.3305	.	.	.	0.42859	D	0.9941	P	0.46706	0.883	P	0.49999	0.628	T	0.75545	-0.3280	8	0.87932	D	0	-3.495	17.1451	0.86764	0.0:0.0:1.0:0.0	.	71	Q92748	THRSP_HUMAN	H	71	.	ENSP00000281030:D71H	D	+	1	0	THRSP	77452786	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	7.764000	0.85297	2.595000	0.87683	0.561000	0.74099	GAC		0.642	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		C	77775138	G	C	77775138	3	2	10	1	0	0	0	0	1	0	0	0	15873	1174	41	5	213	5	THRSP	11	77775138	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	16127555	77775138	57231378	51	702											
PRCP	5547	broad.mit.edu	37	chr11	82571019	82571019	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgaatctgcacatacCgtgttattacaaaaccagat	14	13	5	9	1	2	2	1	1	1	1	2	2	2	2	2	0	4	2	2	0	6	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:82571019C>T	ENST00000313010.3	-	2	503	c.309G>A	c.(307-309)acG>acA	p.T103T	PRCP_ENST00000393399.2_Splice_Site_p.T124T|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	103					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGCACATACCGTGTTATTAC	0.348																																						uc001ozs.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.e2+1		Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.							88	79	82					11																	82571019		2202	4298	6500	SO:0001630	splice_region_variant	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82571019C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.309+1G>A	11.37:g.82571019C>T						PRCP_uc001ozr.3_Splice_Site_p.T124_splice	p.T103_splice	NM_005040	NP_005031	P42785	PCP_HUMAN			2	422	-			103					A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	37	c.309_splice	CCDS8262.1																																																																																				0.348	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	Silent	T	82571019	C	T	82571019	5	4	10	1	0	0	0	0	0	0	1	0	12449	666	23	2	1213	2	PRCP	11	82571019	Splice_Site	SNP	C	TCGA-06-0122-01A-01D-1490-08	4795881	82571019	52435497	52	703											
NFRKB	4798	broad.mit.edu	37	chr11	129751720	129751720	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagggagctggctggcgatGactgccaatccaaaactcgc	10	7	13	11	2	0	2	0	2	0	0	2	4	1	3	2	3	3	2	2	3	3	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:129751720G>C	ENST00000446488.3	-	11	1323	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	NFRKB_ENST00000304521.5_Nonsense_Mutation_p.S407*|NFRKB_ENST00000524746.1_Nonsense_Mutation_p.S407*|NFRKB_ENST00000524794.1_Nonsense_Mutation_p.S432*	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	407	Winged-helix like domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGCTGGCGATGACTGCCAATC	0.557											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qfg.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1294-1296)tCa>tGa		Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.							33	34	34					11																	129751720		2201	4297	6498	SO:0001587	stop_gained	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129751720G>C		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1220C>G	11.37:g.129751720G>C	ENSP00000400476:p.Ser407*		OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1574	NFRKB_uc001qfi.3_Nonsense_Mutation_p.S407*|NFRKB_uc001qfh.3_Nonsense_Mutation_p.S430*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.S419*	p.S432*	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1416	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	407					Q12869|Q15312|Q9H048	Nonsense_Mutation	SNP	ENST00000446488.3	37	c.1295C>G	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	38	7.243173	0.98161	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.67	5.67	0.87782	.	0.566610	0.19227	N	0.119519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-8.8116	19.7621	0.96323	0.0:0.0:1.0:0.0	.	.	.	.	X	407;407;432;407;419	.	ENSP00000303800:S407X	S	-	2	0	NFRKB	129256930	1.000000	0.71417	0.978000	0.43139	0.922000	0.55478	3.774000	0.55341	2.680000	0.91292	0.563000	0.77884	TCA		0.557	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		C	129751720	G	C	129751720	4	2	10	1	0	0	0	0	0	1	0	0	10384	1294	45	5	2743	5	NFRKB	11	129751720	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	47180701	129751720	5254796	53	704											
ESPL1	9700	broad.mit.edu	37	chr12	53684176	53684176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttgatgccatccagaagGcacagaaagagaacagcagc	16	5	11	9	0	0	4	0	1	0	3	1	5	1	4	2	1	4	3	2	1	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:53684176G>A	ENST00000257934.4	+	24	5378	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1763T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1763					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCCAGAAGGCACAGAAAGA	0.557																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5287-5289)Gca>Aca		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							130	113	119					12																	53684176		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53684176G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5287G>A	12.37:g.53684176G>A	ENSP00000257934:p.Ala1763Thr					ESPL1_uc001scj.2_Missense_Mutation_p.A1438T	p.A1763T	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			23	5378	+			1763						Missense_Mutation	SNP	ENST00000257934.4	37	c.5287G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553353	0.45487	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11821	2.74;2.74	5.4	5.4	0.78164	.	0.227351	0.44483	D	0.000449	T	0.09905	0.0243	L	0.29908	0.895	0.23440	N	0.997675	B	0.25007	0.116	B	0.24541	0.054	T	0.15464	-1.0436	10	0.40728	T	0.16	.	7.6616	0.28407	0.0841:0.1664:0.7495:0.0	.	1763	Q14674	ESPL1_HUMAN	T	1763;1438;1763	ENSP00000257934:A1763T;ENSP00000449831:A1763T	ENSP00000257934:A1763T	A	+	1	0	ESPL1	51970443	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.635000	0.46537	2.822000	0.97130	0.650000	0.86243	GCA		0.557	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53684176	G	A	53684176	3	1	10	1	0	0	0	0	1	0	0	0	5253	1203	42	3	5377	3	ESPL1	12	53684176	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		53684176	80167719	54	705											
LRP1	4035	broad.mit.edu	37	chr12	57598195	57598195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccccctggcaccagtgCggacctgccccctggacgag	5	5	13	18	2	0	0	0	0	0	0	1	3	1	2	6	4	2	2	6	4	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:57598195C>T	ENST00000243077.3	+	71	11420	c.10954C>T	c.(10954-10956)Cgg>Tgg	p.R3652W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3652	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R3652W(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCAGTGCGGACCTGCCC	0.622																																						uc001snd.3																			1	Substitution - Missense(1)	p.R3652W(2)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10954-10956)Cgg>Tgg		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						71	68	69					12																	57598195		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598195C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10954C>T	12.37:g.57598195C>T	ENSP00000243077:p.Arg3652Trp						p.R3652W	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	70	11420	+			3652			LDL-receptor class A 29.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10954C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761345	0.49468	.	.	ENSG00000123384	ENST00000243077	D	0.90955	-2.76	5.24	0.852	0.18995	.	0.000000	0.64402	D	0.000004	D	0.93429	0.7904	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92033	0.5635	10	0.45353	T	0.12	.	14.529	0.67912	0.6148:0.3852:0.0:0.0	.	3652	Q07954	LRP1_HUMAN	W	3652	ENSP00000243077:R3652W	ENSP00000243077:R3652W	R	+	1	2	LRP1	55884462	0.796000	0.28864	1.000000	0.80357	0.975000	0.68041	0.421000	0.21280	0.275000	0.22094	0.558000	0.71614	CGG		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57598195	C	T	57598195	3	4	10	1	0	0	0	0	1	0	0	0	8951	759	27	1	11236	1	LRP1	12	57598195	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	3914019	57598195	76253700	55	706											
ANO4	121601	broad.mit.edu	37	chr12	101336194	101336194	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcaaatggactttactttCgagatggaaagtgtcgaatt	14	13	9	5	2	1	1	1	0	0	1	3	5	1	3	0	2	1	0	0	2	5	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:101336194C>T	ENST00000392977.3	+	5	547	c.337C>T	c.(337-339)Cga>Tga	p.R113*	ANO4_ENST00000538618.1_Nonsense_Mutation_p.R279*|ANO4_ENST00000392979.3_Nonsense_Mutation_p.R78*|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	113					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACTTTACTTTCGAGATGGAAA	0.388										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(337-339)Cga>Tga		Homo sapiens anoctamin 4 (ANO4), mRNA.							127	128	128					12																	101336194		2203	4300	6503	SO:0001587	stop_gained	121601					chloride channel complex	chloride channel activity	g.chr12:101336194C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.337C>T	12.37:g.101336194C>T	ENSP00000376703:p.Arg113*	HNSCC(74;0.22)				ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Nonsense_Mutation_p.R78*|ANO4_uc001thx.2_Nonsense_Mutation_p.R113*	p.R113*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			4	909	+			113					Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	37	c.337C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.451656	0.98817	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	.	.	.	5.61	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6172	0.56584	0.7373:0.2627:0.0:0.0	.	.	.	.	X	279;78;113	.	ENSP00000376703:R113X	R	+	1	2	ANO4	99860325	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	2.752000	0.47516	0.386000	0.24997	-0.264000	0.10439	CGA		0.388	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		T	101336194	C	T	101336194	4	4	10	1	0	0	0	0	0	1	0	0	699	876	31	2	242	2	ANO4	12	101336194	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	43737999	101336194	32515701	56	707											
GCN1L1	10985	broad.mit.edu	37	chr12	120599821	120599821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgggaggacccggtcCggcgacaggacggaaaggga	10	3	19	9	4	0	0	0	0	0	0	1	6	1	5	2	7	1	1	2	7	1	0	rs375741812	byFrequency	TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:120599821C>T	ENST00000300648.6	-	21	2217	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	735					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACCCGGTCCGGCGACAGGA	0.617													C|||	3	0.000599042	0.0023	0	5008	,	,		21854	0		0	False		,,,				2504	0					uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2203-2205)ccG>ccA		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.		C		3,4373	4.2+/-10.8	0,3,2185	51	59	56		2205	0.7	1	12		56	1,8561	1.2+/-3.3	0,1,4280	no	coding-synonymous	GCN1L1	NM_006836.1		0,4,6465	TT,TC,CC		0.0117,0.0686,0.0309		735/2672	120599821	4,12934	2188	4281	6469	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599821C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2205G>A	12.37:g.120599821C>T							p.P735P	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			20	2218	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		735					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2205G>A	CCDS41847.1																																																																																				0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120599821	C	T	120599821	2	4	10	1	0	0	0	0	0	0	0	1	6299	639	23	2		2	GCN1L1	12	120599821	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	19263627	120599821	13252074	57	708											
POTEG	404785	broad.mit.edu	37	chr14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgaggtaccacgtccGtcgagaagatctggacaagc	11	5	14	11	4	1	2	0	0	1	2	3	6	2	4	3	3	3	1	3	3	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																						uc001vuz.1																			1	Substitution - Missense(1)	p.R136H(2)|p.V135I(1)	ovary(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(406-408)cGt>cAt		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							93	102	99					14																	19553823		1602	3367	4969	SO:0001583	missense	404785							g.chr14:19553823G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His					POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	p.R136H	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			0	459	+			136					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.407G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553823	G	A	19553823	3	1	10	1	0	0	0	0	1	0	0	0	12266	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		19553823	87795717	58	709											
FOXA1	3169	broad.mit.edu	37	chr14	38061527	38061527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggcgtcgccgccgccGcccgcgcggctgcggcccag	1	5	16	19	9	1	0	0	0	1	0	2	0	1	0	5	3	1	1	5	3	0	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:38061527G>A	ENST00000250448.2	-	2	523	c.462C>T	c.(460-462)ggC>ggT	p.G154G	FOXA1_ENST00000540786.1_Silent_p.G121G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	154					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		cgccgccgccgcccgcgcggc	0.706																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(460-462)ggC>ggT		Homo sapiens forkhead box A1 (FOXA1), mRNA.							31	32	32					14																	38061527		2199	4289	6488	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061527G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.462C>T	14.37:g.38061527G>A						FOXA1_uc010tpz.2_Silent_p.G121G	p.G154G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	774	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		154					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.462C>T	CCDS9665.1																																																																																				0.706	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			A	38061527	G	A	38061527	2	1	10	1	0	0	0	0	0	0	0	1	5989	1074	38	1		1	FOXA1	14	38061527	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	18507704	38061527	69288013	59	710											
MDGA2	161357	broad.mit.edu	37	chr14	47426709	47426709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaaattgacccgtccGtaataatttattgcccaagc	13	11	7	10	2	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	5	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:47426709G>A	ENST00000399232.2	-	9	2114	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000439988.3_Missense_Mutation_p.R653W|MDGA2_ENST00000357362.3_Missense_Mutation_p.R355W|MDGA2_ENST00000426342.1_Missense_Mutation_p.R355W	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	584	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACCCGTCCGTAATAATTTA	0.443																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1957-1959)Cgg>Tgg		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							96	96	96					14																	47426709		1934	4145	6079	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426709G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1750C>T	14.37:g.47426709G>A	ENSP00000382178:p.Arg584Trp					MDGA2_uc001wwi.4_Missense_Mutation_p.R355W|MDGA2_uc010ani.3_Missense_Mutation_p.R144W|SNORA25_uc021rsl.1_5'Flank	p.R653W	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			8	2115	-			584					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1957C>T		.	.	.	.	.	.	.	.	.	.	G	19.16	3.772887	0.69992	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.54	3.6	0.41247	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.281428	0.24291	U	0.039813	T	0.20007	0.0481	L	0.34521	1.04	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.58970	0.764;0.849	T	0.00761	-1.1577	10	0.66056	D	0.02	.	9.1998	0.37251	0.0:0.1341:0.517:0.3489	.	355;584	F6W3S7;Q7Z553	.;MDGA2_HUMAN	W	584;355;653;355	ENSP00000400011:R584W;ENSP00000405456:R355W;ENSP00000382178:R653W;ENSP00000349925:R355W	ENSP00000349925:R355W	R	-	1	2	MDGA2	46496459	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	1.615000	0.36922	0.575000	0.29434	-0.127000	0.14921	CGG		0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		A	47426709	G	A	47426709	3	1	10	1	0	0	0	0	1	0	0	0	9407	1144	40	1	1156	1	MDGA2	14	47426709	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	9365182	47426709	59922831	60	711											
KIAA1409	57578	broad.mit.edu	37	chr14	94173118	94173118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgaaccaccacagcctaagGacgctgccgggctcgggcca	9	4	13	15	3	0	1	0	1	0	0	1	2	0	2	5	3	3	2	5	3	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:94173118G>C	ENST00000393151.2	+	50	7776	c.7776G>C	c.(7774-7776)agG>agC	p.R2592S	UNC79_ENST00000256339.4_Missense_Mutation_p.R2415S|UNC79_ENST00000553484.1_Missense_Mutation_p.R2614S|UNC79_ENST00000555664.1_Missense_Mutation_p.R2553S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2592					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACAGCCTAAGGACGCTGCCGG	0.567																																						uc001ybv.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7309-7311)agG>agC		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							71	75	74					14																	94173118		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173118G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7776G>C	14.37:g.94173118G>C	ENSP00000376858:p.Arg2592Ser					UNC79_uc001ybs.1_Missense_Mutation_p.R2415S	p.R2437S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			47	7394	+			2592					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7311G>C		.	.	.	.	.	.	.	.	.	.	G	18.55	3.648691	0.67358	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.25;2.23;2.23	5.94	5.94	0.96194	.	0.049202	0.85682	D	0.000000	T	0.15565	0.0375	N	0.25647	0.755	0.58432	D	0.999999	B	0.22541	0.071	B	0.15484	0.013	T	0.05716	-1.0868	10	0.30854	T	0.27	-21.9319	20.3632	0.98871	0.0:0.0:1.0:0.0	.	2614	C9JQL1	.	S	2415;2553;2614;2592;2614	ENSP00000256339:R2415S;ENSP00000450868:R2553S;ENSP00000451360:R2614S;ENSP00000376858:R2592S	ENSP00000256339:R2415S	R	+	3	2	KIAA1409	93242871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.787000	0.75099	2.826000	0.97356	0.561000	0.74099	AGG		0.567	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94173118	G	C	94173118	3	2	10	1	0	0	0	0	1	0	0	0	8230	1165	41	5	7431	5	KIAA1409	14	94173118	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	46746409	94173118	13176422	61	712			1	3		2	2	22	G		6.512105e-05
KIAA1409	57578	broad.mit.edu	37	chr14	94173139	94173139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgctgccgggctcgggccaGagcagtgctggcctggcagc	5	5	17	14	3	0	1	0	0	0	1	1	1	0	1	3	4	4	5	3	4	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:94173139G>C	ENST00000393151.2	+	50	7797	c.7797G>C	c.(7795-7797)caG>caC	p.Q2599H	UNC79_ENST00000256339.4_Missense_Mutation_p.Q2422H|UNC79_ENST00000553484.1_Missense_Mutation_p.Q2621H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q2560H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2599					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTCGGGCCAGAGCAGTGCTG	0.577																																						uc001ybv.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7330-7332)caG>caC		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							67	70	69					14																	94173139		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173139G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7797G>C	14.37:g.94173139G>C	ENSP00000376858:p.Gln2599His					UNC79_uc001ybs.1_Missense_Mutation_p.Q2422H	p.Q2444H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			47	7415	+			2599		G -> S (in dbSNP:rs7359096).			B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7332G>C		.	.	.	.	.	.	.	.	.	.	G	17.82	3.484176	0.63962	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.13;2.14;2.13;2.13	6.08	5.18	0.71444	.	0.340814	0.32769	N	0.005672	T	0.27241	0.0668	L	0.53249	1.67	0.48571	D	0.999672	P	0.47253	0.892	P	0.47251	0.542	T	0.00335	-1.1808	10	0.38643	T	0.18	-11.2203	12.9904	0.58616	0.1263:0.0:0.8737:0.0	.	2621	C9JQL1	.	H	2422;2560;2621;2599;2621	ENSP00000256339:Q2422H;ENSP00000450868:Q2560H;ENSP00000451360:Q2621H;ENSP00000376858:Q2599H	ENSP00000256339:Q2422H	Q	+	3	2	KIAA1409	93242892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.102000	0.41796	2.894000	0.99253	0.655000	0.94253	CAG		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94173139	G	C	94173139	3	2	10	1	0	0	0	0	1	0	0	0	8230	933	33	5	7452	5	KIAA1409	14	94173139	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	21	94173139	13176401	62	713			1	3		2	2	22	G		6.512105e-05
BAHD1	22893	broad.mit.edu	37	chr15	40751616	40751616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacctgcccctgctgaTgggtggacaggcggctctga	5	8	13	15	1	2	2	1	2	1	0	2	3	2	3	4	4	2	2	4	4	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:40751616T>C	ENST00000416165.1	+	2	1024	c.953T>C	c.(952-954)aTg>aCg	p.M318T	BAHD1_ENST00000561234.1_Missense_Mutation_p.M318T|BAHD1_ENST00000560846.1_Missense_Mutation_p.M318T	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	318	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCTGCTGATGGGTGGACAG	0.652																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(952-954)aTg>aCg		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							33	40	38					15																	40751616		2199	4298	6497	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751616T>C	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.953T>C	15.37:g.40751616T>C	ENSP00000396976:p.Met318Thr					BAHD1_uc001zlt.2_Missense_Mutation_p.M318T|BAHD1_uc010bbp.1_Missense_Mutation_p.M318T|BAHD1_uc001zlv.2_Missense_Mutation_p.M318T	p.M318T	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	1024	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	318			Pro-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.953T>C	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254182	0.59212	.	.	ENSG00000140320	ENST00000416165	T	0.71579	-0.58	5.83	5.83	0.93111	.	0.047718	0.85682	D	0.000000	T	0.73606	0.3608	L	0.27053	0.805	0.48830	D	0.999713	D;D;D	0.62365	0.991;0.985;0.991	P;P;P	0.59595	0.86;0.728;0.86	T	0.77189	-0.2679	10	0.72032	D	0.01	-18.7691	16.1937	0.82011	0.0:0.0:0.0:1.0	.	318;318;318	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	T	318	ENSP00000396976:M318T	ENSP00000396976:M318T	M	+	2	0	BAHD1	38538908	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.644000	0.61397	2.220000	0.72140	0.533000	0.62120	ATG		0.652	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		C	40751616	T	C	40751616	3	2	10	1	0	0	0	0	1	0	0	0	1297	1464	51	4	955	4	BAHD1	15	40751616	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08		40751616	61779776	63	714											
CYP19A1	1588	broad.mit.edu	37	chr15	51507426	51507426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttgtcaggtcaccacGtttctgaacaattggaagat	10	13	8	10	1	4	2	2	1	2	1	5	3	4	3	1	2	1	1	1	2	3	3	rs181766689		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:51507426G>A	ENST00000396402.1	-	8	1015	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CYP19A1_ENST00000396404.4_Missense_Mutation_p.R288C|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R288C|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R288C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	288					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	AGGTCACCACGTTTCTGAACA	0.403													G|||	1	0.000199681	0	0	5008	,	,		19145	0		0.001	False		,,,				2504	0				Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.4																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(862-864)Cgt>Tgt		Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						105	97	100					15																	51507426		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507426G>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.862C>T	15.37:g.51507426G>A	ENSP00000379683:p.Arg288Cys					CYP19A1_uc001zza.4_Missense_Mutation_p.R288C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R288C	p.R288C	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	8	1113	-			288					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.862C>T	CCDS10139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.22	3.333958	0.60853	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.93	5.93	0.95920	.	0.215850	0.48286	D	0.000185	T	0.62171	0.2406	M	0.66506	2.035	0.80722	D	1	P	0.40180	0.705	B	0.29267	0.1	T	0.67875	-0.5557	10	0.56958	D	0.05	-13.9625	15.9857	0.80151	0.0:0.0:0.8575:0.1425	.	288	P11511	CP19A_HUMAN	C	288	ENSP00000379683:R288C;ENSP00000260433:R288C;ENSP00000379685:R288C;ENSP00000390614:R288C	ENSP00000260433:R288C	R	-	1	0	CYP19A1	49294718	1.000000	0.71417	0.993000	0.49108	0.198000	0.23893	5.291000	0.65667	2.826000	0.97356	0.655000	0.94253	CGT		0.403	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			A	51507426	G	A	51507426	3	1	10	1	0	0	0	0	1	0	0	0	4148	1145	40	1	661	1	CYP19A1	15	51507426	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	10755810	51507426	51023966	64	715											
CILP	8483	broad.mit.edu	37	chr15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaagaacctctcactcCggtaggccctcaccttaaca	11	8	7	15	1	2	1	2	0	1	1	4	1	3	1	4	3	2	2	4	3	5	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:65490345C>T	ENST00000261883.4	-	9	2445	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	760					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547																																						uc002aon.2																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2278-2280)cGg>cAg		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							120	123	122					15																	65490345		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490345C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2279G>A	15.37:g.65490345C>T	ENSP00000261883:p.Arg760Gln						p.R760Q	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	2460	-			760					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2279G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895174	0.52121	.	.	ENSG00000138615	ENST00000261883	T	0.09817	2.94	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.50919	1.6	0.58432	D	0.999998	D	0.71674	0.998	P	0.56648	0.803	T	0.03249	-1.1056	10	0.11794	T	0.64	-18.9104	18.1161	0.89555	0.0:1.0:0.0:0.0	.	760	O75339	CILP1_HUMAN	Q	760	ENSP00000261883:R760Q	ENSP00000261883:R760Q	R	-	2	0	CILP	63277398	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.772000	0.85439	2.584000	0.87258	0.563000	0.77884	CGG		0.547	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65490345	C	T	65490345	3	4	10	1	0	0	0	0	1	0	0	0	3429	652	23	2	1279	2	CILP	15	65490345	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	13982919	65490345	37041047	65	716											
BTBD12	84464	broad.mit.edu	37	chr16	3642834	3642834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgctgggtcagaaccccGtcctctacagcggagaagcc	10	5	11	15	3	2	2	1	0	1	2	3	3	3	2	4	2	4	1	4	2	3	1	rs551541558		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr16:3642834G>A	ENST00000294008.3	-	11	2833	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	731	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCAGAACCCCGTCCTCTACAG	0.567								Direct reversal of damage					G|||	1	0.000199681	8e-04	0	5008	,	,		16450	0		0	False		,,,				2504	0					uc002cvp.2																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2191-2193)gaC>gaT	Direct reversal of damage	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.							56	51	53					16																	3642834		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3642834G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2193C>T	16.37:g.3642834G>A							p.D731D	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			10	2820	-			731			BTB.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.2193C>T	CCDS10506.2																																																																																				0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3642834	G	A	3642834	2	1	10	1	0	0	0	0	0	0	0	1	1540	1136	40	1		1	BTBD12	16	3642834	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08		3642834	86711919	66	717											
ANKRD11	29123	broad.mit.edu	37	chr16	89351279	89351279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgacctctgaccaagcCggggaagaaatggttttcca	12	8	11	10	1	1	3	0	2	1	1	2	5	2	4	4	3	2	1	4	3	4	2	rs562839386		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr16:89351279C>T	ENST00000301030.4	-	9	2131	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	ANKRD11_ENST00000378330.2_Silent_p.P557P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	557	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGACCAAGCCGGGGAAGAAA	0.562													C|||	1	0.000199681	0	0	5008	,	,		18950	0		0	False		,,,				2504	0.001					uc002fmx.1																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1669-1671)ccG>ccA		Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.							46	47	46					16																	89351279		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89351279C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1671G>A	16.37:g.89351279C>T						ANKRD11_uc002fmy.1_Silent_p.P557P|ANKRD11_uc002fnc.1_Silent_p.P557P|ANKRD11_uc002fnb.1_Silent_p.P514P	p.P557P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	2132	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	557			Ser-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1671G>A	CCDS32513.1																																																																																				0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89351279	C	T	89351279	2	4	10	1	0	0	0	0	0	0	0	1	639	639	23	2		2	ANKRD11	16	89351279	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	85708445	89351279	1003474	67	718											
COX10	1352	broad.mit.edu	37	chr17	14110273	14110273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccggcgcgtggcgctgCgccactgcctggccctgctc	1	8	15	17	5	0	0	0	0	0	0	1	0	0	0	4	3	4	2	4	3	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:14110273C>T	ENST00000261643.3	+	7	1152	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	COX10_ENST00000537334.1_Missense_Mutation_p.R142C|COX10_ENST00000536205.1_Missense_Mutation_p.R167C	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	359					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGTGGCGCTGCGCCACTGCCT	0.657																																						uc002gof.4																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1075-1077)Cgc>Tgc		Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.							81	71	74					17																	14110273		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110273C>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1075C>T	17.37:g.14110273C>T	ENSP00000261643:p.Arg359Cys					COX10_uc010vvs.2_Missense_Mutation_p.R142C|COX10_uc010vvt.2_Missense_Mutation_p.R167C	p.R359C	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	6	1279	+		all_lung(20;0.06)|Lung SC(565;0.168)	359					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1075C>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620775	0.87460	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.92911	-3.13;-3.13;-3.13	4.79	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97445	1.0024	10	0.87932	D	0	-17.7441	14.2808	0.66211	0.1502:0.8498:0.0:0.0	.	167;359	B4DJ50;Q12887	.;COX10_HUMAN	C	359;167;142	ENSP00000261643:R359C;ENSP00000439494:R167C;ENSP00000443354:R142C	ENSP00000261643:R359C	R	+	1	0	COX10	14050998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	1.100000	0.41517	0.561000	0.74099	CGC		0.657	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		T	14110273	C	T	14110273	3	4	10	1	0	0	0	0	1	0	0	0	3762	768	27	1	1101	1	COX10	17	14110273	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		14110273	67084937	68	719											
SYNRG	11276	broad.mit.edu	37	chr17	35928904	35928904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttctacctgtttccatgCtgggagttacttgtttttga	5	20	8	8	0	1	1	0	1	1	0	2	2	2	2	2	1	3	4	2	1	2	8			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:35928904C>G	ENST00000339208.6	-	11	1610	c.1470G>C	c.(1468-1470)caG>caC	p.Q490H	SYNRG_ENST00000585472.1_Missense_Mutation_p.Q411H|SYNRG_ENST00000502449.2_Missense_Mutation_p.Q412H|SYNRG_ENST00000394378.2_Missense_Mutation_p.Q412H|SYNRG_ENST00000345615.4_Missense_Mutation_p.Q412H|SYNRG_ENST00000346661.4_Missense_Mutation_p.Q490H|SYNRG_ENST00000591288.1_Missense_Mutation_p.Q329H|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	490					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTTCCATGCTGGGAGTTAC	0.363																																						uc002hoa.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1468-1470)caG>caC		Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.							106	107	106					17																	35928904		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35928904C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1470G>C	17.37:g.35928904C>G	ENSP00000343610:p.Gln490His					SYNRG_uc010wde.2_Missense_Mutation_p.Q412H|SYNRG_uc010wdf.2_Missense_Mutation_p.Q412H|SYNRG_uc002hoc.3_Missense_Mutation_p.Q411H|SYNRG_uc002hoe.3_Missense_Mutation_p.Q412H|SYNRG_uc002hod.3_Missense_Mutation_p.Q412H|SYNRG_uc010wdg.2_Missense_Mutation_p.Q329H|SYNRG_uc002hob.3_Missense_Mutation_p.Q490H|SYNRG_uc002hof.3_Missense_Mutation_p.Q202H|SYNRG_uc010cvd.1_Missense_Mutation_p.Q290H|SYNRG_uc002hog.1_Missense_Mutation_p.Q624H	p.Q490H	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			10	1553	-			490					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1470G>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.481942	0.63849	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.51325	1.28;0.71;0.72	5.77	3.46	0.39613	.	0.114912	0.64402	D	0.000014	T	0.61652	0.2364	L	0.56769	1.78	0.49483	D	0.999794	D;D;D;D;D;D	0.76494	0.996;0.997;0.997;0.997;0.999;0.999	D;D;D;D;D;D	0.85130	0.953;0.957;0.957;0.957;0.997;0.997	T	0.59193	-0.7500	10	0.27785	T	0.31	-7.5987	13.4397	0.61106	0.0:0.852:0.0:0.148	.	329;412;412;412;490;490	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	H	490;329;490;412;412	ENSP00000005279:Q490H;ENSP00000424893:Q412H;ENSP00000377903:Q412H	ENSP00000343610:Q329H	Q	-	3	2	SYNRG	33003017	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.062000	0.30555	1.462000	0.47948	0.585000	0.79938	CAG		0.363	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		G	35928904	C	G	35928904	3	3	10	1	0	0	0	0	1	0	0	0	15457	796	28	5	2595	5	SYNRG	17	35928904	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	21818631	35928904	45266306	69	720											
KRT34	3885	broad.mit.edu	37	chr17	39535345	39535345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagctgagactccacGttggtgatcaggctctgcac	7	10	11	13	1	3	2	1	2	2	1	4	3	4	2	2	2	3	4	2	2	0	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617																																						uc002hwm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1084-1086)aaC>aaT		Homo sapiens keratin 34 (KRT34), mRNA.							120	103	109					17																	39535345		2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535345G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1086C>T	17.37:g.39535345G>A							p.N362N	NM_021013	NP_066293	O76011	KRT34_HUMAN			5	1098	-		Breast(137;0.000496)	362			Coil 2.|Rod.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1086C>T	CCDS11390.1																																																																																				0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		A	39535345	G	A	39535345	2	1	10	1	0	0	0	0	0	0	0	1	8471	1136	40	1		1	KRT34	17	39535345	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	3606441	39535345	41659865	70	721											
ARMC7	79637	broad.mit.edu	37	chr17	73125017	73125017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctccggaacctggcaCagatcttcctggaggacttc	8	8	11	14	1	1	1	0	0	1	1	4	4	3	4	4	5	1	2	4	5	1	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:73125017C>T	ENST00000245543.1	+	3	783	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	161						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GAACCTGGCACAGATCTTCCT	0.706																																						uc002jmw.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9						c.(481-483)Cag>Tag		Homo sapiens armadillo repeat containing 7 (ARMC7), mRNA.							19	18	19					17																	73125017		2203	4298	6501	SO:0001587	stop_gained	79637						binding	g.chr17:73125017C>T	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"Armadillo repeat containing"	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.481C>T	17.37:g.73125017C>T	ENSP00000245543:p.Gln161*					ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_Non-coding_Transcript	p.Q161*	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	783	+	all_lung(278;0.14)|Lung NSC(278;0.168)		161					B4DVA4	Nonsense_Mutation	SNP	ENST00000245543.1	37	c.481C>T	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	35	5.521455	0.96416	.	.	ENSG00000125449	ENST00000245543	.	.	.	5.18	3.08	0.35506	.	0.764807	0.12308	N	0.480434	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2243	0.06726	0.3425:0.4475:0.1205:0.0894	.	.	.	.	X	161	.	ENSP00000245543:Q161X	Q	+	1	0	ARMC7	70636612	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.771000	0.26633	2.595000	0.87683	0.655000	0.94253	CAG		0.706	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		T	73125017	C	T	73125017	4	4	10	1	0	0	0	0	0	1	0	0	956	479	17	3	491	3	ARMC7	17	73125017	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	33589672	73125017	8070193	71	722											
ANKRD12	23253	broad.mit.edu	37	chr18	9280962	9280962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttttaatgaggcaacaAcatgaagctgcggctttaaa	13	12	9	7	1	1	2	0	2	1	0	1	2	1	2	0	2	4	3	0	2	6	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:9280962A>C	ENST00000262126.4	+	13	6267	c.6027A>C	c.(6025-6027)caA>caC	p.Q2009H	snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1986H|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1986H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2009						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAGGCAACAACATGAAGCTG	0.363																																						uc002knv.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(6025-6027)caA>caC		Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.							81	85	84					18																	9280962		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9280962A>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6027A>C	18.37:g.9280962A>C	ENSP00000262126:p.Gln2009His					ANKRD12_uc002knw.3_Missense_Mutation_p.Q1986H|ANKRD12_uc002knx.3_Missense_Mutation_p.Q1986H	p.Q2009H	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			12	6291	+			2009					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.6027A>C	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628124	0.46944	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.68765	-0.34;-0.35	5.38	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	N	0.20530	0.585	0.54753	D	0.999983	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.66822	-0.5826	10	0.54805	T	0.06	-16.9624	7.5682	0.27892	0.7541:0.0:0.2459:0.0	.	1986;2009	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	H	1986;2009	ENSP00000372932:Q1986H;ENSP00000262126:Q2009H	ENSP00000262126:Q2009H	Q	+	3	2	ANKRD12	9270962	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.674000	0.46867	0.894000	0.36317	0.482000	0.46254	CAA		0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		C	9280962	A	C	9280962	3	2	10	1	0	0	0	0	1	0	0	0	640	40	2	5	6073	5	ANKRD12	18	9280962	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		9280962	68796286	72	723											
GALR1	2587	broad.mit.edu	37	chr18	74962646	74962646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatcttcgcgctgggtGtgctgggcaacagcctagtg	5	10	15	11	2	1	1	0	1	1	0	2	1	1	1	2	2	3	3	2	2	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:74962646G>A	ENST00000299727.3	+	1	142	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	48					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGCGCTGGGTGTGCTGGGCAA	0.682																																						uc002lms.4																			0		p.G47V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(142-144)Gtg>Atg		Homo sapiens galanin receptor 1 (GALR1), mRNA.							37	35	36					18																	74962646		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962646G>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.142G>A	18.37:g.74962646G>A	ENSP00000299727:p.Val48Met						p.V48M	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	0	639	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	48					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.142G>A	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875642	0.72180	.	.	ENSG00000166573	ENST00000299727	T	0.41758	0.99	4.76	4.76	0.60689	.	0.060193	0.64402	D	0.000003	T	0.46210	0.1381	L	0.55481	1.735	0.80722	D	1	P	0.36495	0.556	B	0.40702	0.338	T	0.51458	-0.8703	10	0.59425	D	0.04	.	17.3729	0.87383	0.0:0.0:1.0:0.0	.	48	P47211	GALR1_HUMAN	M	48	ENSP00000299727:V48M	ENSP00000299727:V48M	V	+	1	0	GALR1	73091634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.342000	0.72982	2.192000	0.70111	0.585000	0.79938	GTG		0.682	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			A	74962646	G	A	74962646	3	1	10	1	0	0	0	0	1	0	0	0	6227	1377	48	3	144	3	GALR1	18	74962646	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	65681684	74962646	3114602	73	724											
OR7G2	390882	broad.mit.edu	37	chr19	9213120	9213120	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgcagtcttcctaggtGagtcagtaaccacagaacta	12	9	8	12	0	2	2	1	1	1	1	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:9213120G>C	ENST00000305456.2	-	1	862	c.863C>G	c.(862-864)tCa>tGa	p.S288*		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTCCTAGGTGAGTCAGTAAC	0.463																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(862-864)tCa>tGa		Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.							118	103	108					19																	9213120		2203	4300	6503	SO:0001587	stop_gained	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213120G>C		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.863C>G	19.37:g.9213120G>C	ENSP00000303822:p.Ser288*						p.S288*	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			0	863	-			267					Q6IFJ4|Q96RA0	Nonsense_Mutation	SNP	ENST00000305456.2	37	c.863C>G	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	12.58	1.979463	0.34942	.	.	ENSG00000170923	ENST00000305456	.	.	.	3.14	-0.532	0.11890	.	0.240862	0.21370	U	0.075659	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2096	0.20621	0.096:0.0:0.581:0.323	.	.	.	.	X	288	.	ENSP00000303822:S288X	S	-	2	0	OR7G2	9074120	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.328000	0.19681	0.027000	0.15297	0.447000	0.29281	TCA		0.463	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			C	9213120	G	C	9213120	4	2	10	1	0	0	0	0	0	1	0	0	11223	1294	45	5	176	5	OR7G2	19	9213120	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		9213120	49915863	74	725											
C19orf44	84167	broad.mit.edu	37	chr19	16612069	16612069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcccagaatcaagccCgtgaacttcctgtcaccgaa	13	8	6	14	2	2	2	2	1	0	1	4	3	4	2	4	0	3	0	4	0	5	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:16612069C>T	ENST00000221671.3	+	2	622	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.R156C	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	156										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAATCAAGCCCGTGAACTTCC	0.498																																						uc002neh.1																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(466-468)Cgt>Tgt		Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.							76	79	78					19																	16612069		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16612069C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.466C>T	19.37:g.16612069C>T	ENSP00000221671:p.Arg156Cys					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R156C|C19orf44_uc002neg.3_Missense_Mutation_p.R156C|C19orf44_uc010eai.1_Non-coding_Transcript	p.R156C	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			1	539	+			156					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.466C>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478736	0.26511	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.4	-8.51	0.00923	.	3.120120	0.00807	N	0.001474	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.08055	0.001;0.003	T	0.11842	-1.0571	9	0.51188	T	0.08	4.487	0.2655	0.00224	0.2307:0.1881:0.2445:0.3367	.	156;156	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	C	156	.	ENSP00000221671:R156C	R	+	1	0	C19orf44	16473069	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.816000	0.04477	-1.165000	0.02786	-0.835000	0.03068	CGT		0.498	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		T	16612069	C	T	16612069	3	4	10	1	0	0	0	0	1	0	0	0	1927	652	23	2	468	2	C19orf44	19	16612069	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	7398949	16612069	42516914	75	726											
KLHL26	55295	broad.mit.edu	37	chr19	18779533	18779533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcaatgagtggggctaCgcctgctcgctgaagcgccg	6	6	16	13	6	0	2	0	2	0	0	1	2	0	2	2	3	3	4	2	3	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:18779533C>T	ENST00000300976.4	+	3	1416	c.1326C>T	c.(1324-1326)taC>taT	p.Y442Y	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	442										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTGGGGCTACGCCTGCTCGC	0.701																																						uc002njz.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1324-1326)taC>taT		Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.							11	14	13					19																	18779533		2189	4281	6470	SO:0001819	synonymous_variant	55295							g.chr19:18779533C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1326C>T	19.37:g.18779533C>T							p.Y442Y	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			2	1353	+			442					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1326C>T	CCDS12384.1																																																																																				0.701	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		T	18779533	C	T	18779533	2	4	10	1	0	0	0	0	0	0	0	1	8381	547	19	1		1	KLHL26	19	18779533	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	2167464	18779533	40349450	76	727											
APLP1	333	broad.mit.edu	37	chr19	36363501	36363501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggagcgtaggatgCgccagattaatgaggtgata	12	8	15	6	2	0	3	0	2	0	1	0	6	0	6	2	4	2	1	2	4	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:36363501C>T	ENST00000221891.4	+	7	1159	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	APLP1_ENST00000586861.1_Missense_Mutation_p.R317C|APLP1_ENST00000537454.2_Missense_Mutation_p.R284C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	323	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTAGGATGCGCCAGATTAA	0.537																																						uc002oce.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(967-969)Cgc>Tgc		Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.							111	108	109					19																	36363501		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363501C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.967C>T	19.37:g.36363501C>T	ENSP00000221891:p.Arg323Cys					APLP1_uc010xsz.2_Missense_Mutation_p.R284C|APLP1_uc002ocf.3_Missense_Mutation_p.R323C|APLP1_uc002ocg.3_Missense_Mutation_p.R226C|APLP1_uc010xta.2_Missense_Mutation_p.R317C	p.R323C	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1105	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		323			Heparin-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.967C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772875	0.69992	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.45668	0.89;0.89	4.89	3.85	0.44370	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.46442	D	0.000286	T	0.47544	0.1451	L	0.36672	1.1	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.74674	0.984;0.869;0.973;0.984	T	0.48410	-0.9038	10	0.72032	D	0.01	-18.5149	5.4414	0.16511	0.2004:0.6985:0.0:0.101	.	317;284;323;323	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	C	284;323	ENSP00000441501:R284C;ENSP00000221891:R323C	ENSP00000221891:R323C	R	+	1	0	APLP1	41055341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.209000	0.58493	2.270000	0.75569	0.462000	0.41574	CGC		0.537	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		T	36363501	C	T	36363501	3	4	10	1	0	0	0	0	1	0	0	0	778	768	27	1	993	1	APLP1	19	36363501	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	17583968	36363501	22765482	77	728											
PSG8	440533	broad.mit.edu	37	chr19	43269670	43269670	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggttctctcctcacCtgtgagcaggagccccttcc	6	9	10	16	0	2	1	1	1	1	0	5	3	4	3	6	3	2	2	6	3	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:43269670C>A	ENST00000306511.4	-	1	161	c.64G>T	c.(64-66)Gca>Tca	p.A22S	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Splice_Site_p.A22S|PSG8_ENST00000406636.3_Splice_Site_p.V22L	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	22						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCTCCTCACCTGTGAGCAGG	0.567																																						uc002ouo.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.e1+1		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.							104	105	105					19																	43269670		1511	2707	4218	SO:0001630	splice_region_variant	440533					extracellular region		g.chr19:43269670C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.64+1G>T	19.37:g.43269670C>A						PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Splice_Site_p.A22_splice|PSG8_uc010ein.3_Splice_Site_p.V22_splice|PSG3_uc002oun.3_Intron	p.A22_splice	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			1	162	-		Prostate(69;0.00899)	22					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.64_splice	CCDS33037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.43|16.43	3.121085|3.121085	0.56613|0.56613	.|.	.|.	ENSG00000124467|ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511|ENST00000406636	T;T;T|T	0.28895|0.22539	1.59;2.68;1.59|1.95	1.35|1.35	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|T	0.20981|0.20981	0.0505|0.0505	M|M	0.73217|0.73217	2.22|2.22	0.19775|0.19775	N|N	0.999951|0.999951	P;P|B	0.49696|0.02656	0.927;0.699|0.0	P;B|B	0.48571|0.04013	0.582;0.348|0.001	T|T	0.19386|0.19386	-1.0307|-1.0307	8|8	.|.	.|.	.|.	.|.	6.1568|6.1568	0.20342|0.20342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22;22|22	Q9UQ74;A5PKV3|Q9UQ74-2	PSG8_HUMAN;.|.	S|L	22|22	ENSP00000385869:A22S;ENSP00000386090:A22S;ENSP00000305005:A22S|ENSP00000385081:V22L	.|.	A|V	-|-	1|1	0|0	PSG8|PSG8	47961510|47961510	0.986000|0.986000	0.35501|0.35501	0.958000|0.958000	0.39756|0.39756	0.268000|0.268000	0.26511|0.26511	1.703000|1.703000	0.37846|0.37846	1.063000|1.063000	0.40649|0.40649	0.184000|0.184000	0.17185|0.17185	GCA|GTG		0.567	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		Missense_Mutation	A	43269670	C	A	43269670	5	1	10	1	0	0	0	0	0	0	1	0	12661	695	24	5	1257	5	PSG8	19	43269670	Splice_Site	SNP	C	TCGA-06-0122-01A-01D-1490-08	6906169	43269670	15859313	78	729											
ZNF229	7772	broad.mit.edu	37	chr19	44933156	44933156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacacacgtcacacacGtagggcctctctcccgtgtg	7	9	8	17	3	2	0	1	0	1	0	5	0	4	0	3	1	0	1	3	1	1	2	rs536903685		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:44933156G>A	ENST00000588931.1	-	6	2233	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	ZNF229_ENST00000291187.4_Silent_p.Y594Y|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTCACACACGTAGGGCCTCT	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		20014	0		0	False		,,,				2504	0					uc002oze.1																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1798-1800)taC>taT		Homo sapiens zinc finger protein 229 (ZNF229), mRNA.							64	69	67					19																	44933156		2182	4293	6475	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933156G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1800C>T	19.37:g.44933156G>A						ZNF229_uc010ejk.1_Silent_p.Y254Y|ZNF229_uc010ejl.1_Silent_p.Y594Y	p.Y600Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	2234	-		Prostate(69;0.0352)	600					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1800C>T	CCDS42574.1																																																																																				0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		A	44933156	G	A	44933156	2	1	10	1	0	0	0	0	0	0	0	1	17779	1140	40	1		1	ZNF229	19	44933156	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	1663486	44933156	14195827	79	730											
SPIB	6689	broad.mit.edu	37	chr19	50926144	50926144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgaagccttcgacccGgcagcagccgcttttagcca	8	8	9	16	3	0	1	0	1	0	0	1	2	0	1	5	1	4	3	5	1	3	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:50926144G>A	ENST00000595883.1	+	4	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000597855.1_Silent_p.P63P|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000270632.7_Silent_p.P63P|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G198S	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662																																						uc002psd.3																			0		p.P63Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(187-189)ccG>ccA		Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.							37	45	42					19																	50926144		2199	4289	6488	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926144G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.189G>A	19.37:g.50926144G>A						SPIB_uc021uyc.1_Missense_Mutation_p.R44Q|SPIB_uc002pse.3_Silent_p.P63P|SPIB_uc010ycc.2_Intron	p.P63P	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	3	214	+		all_neural(266;0.131)	63					A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	c.189G>A	CCDS33080.1																																																																																				0.662	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		A	50926144	G	A	50926144	2	1	10	1	0	0	0	0	0	0	0	1	15049	1103	39	2		2	SPIB	19	50926144	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	5992988	50926144	8202839	80	731											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630497	51630497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcagctgaattcacctGcagagctcagaaccctctcg	10	8	10	13	1	3	3	2	1	1	2	4	4	3	4	2	1	5	4	2	1	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:51630497G>A	ENST00000250360.3	+	4	1026	c.959G>A	c.(958-960)tGc>tAc	p.C320Y	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.C320Y	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	320	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAATTCACCTGCAGAGCTCAG	0.622																																						uc010yct.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(958-960)tGc>tAc		Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.							36	36	36					19																	51630497		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630497G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.959G>A	19.37:g.51630497G>A	ENSP00000250360:p.Cys320Tyr					SIGLEC9_uc002pvu.3_Missense_Mutation_p.C320Y	p.C320Y	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	1054	+		all_neural(266;0.0529)	320			Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.959G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.185623	0.38609	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.61510	0.1;0.1	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000818	T	0.81143	0.4761	H	0.98178	4.165	0.34889	D	0.745307	D	0.69078	0.997	D	0.70016	0.967	D	0.86010	0.1500	10	0.87932	D	0	.	7.7535	0.28911	0.0:0.0:1.0:0.0	.	320	Q9Y336	SIGL9_HUMAN	Y	320	ENSP00000413861:C320Y;ENSP00000250360:C320Y	ENSP00000250360:C320Y	C	+	2	0	SIGLEC9	56322309	0.974000	0.33945	0.354000	0.25760	0.100000	0.18952	3.644000	0.54381	1.127000	0.42034	0.407000	0.27541	TGC		0.622	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		A	51630497	G	A	51630497	3	1	10	1	0	0	0	0	1	0	0	0	14315	1319	46	3	973	3	SIGLEC9	19	51630497	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	704353	51630497	7498486	81	732											
ZNF417	147687	broad.mit.edu	37	chr19	58423432	58423432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgagcaacttacccagCgaggatatgagagccaggtt	12	7	13	9	2	0	2	0	2	0	1	0	5	0	3	2	2	6	2	2	2	3	3	rs202027959		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:58423432C>T	ENST00000312026.5	-	2	323	c.159G>A	c.(157-159)tcG>tcA	p.S53S	CTD-2583A14.9_ENST00000602124.1_Silent_p.S10S|ZNF417_ENST00000595559.1_Silent_p.S52S|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACTTACCCAGCGAGGATATGA	0.498													C|||	1	0.000199681	0	0	5008	,	,		22108	0.001		0	False		,,,				2504	0					uc002qqq.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(157-159)tcG>tcA		Homo sapiens zinc finger protein 417 (ZNF417), mRNA.							49	47	48					19																	58423432		2202	4280	6482	SO:0001819	synonymous_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58423432C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.159G>A	19.37:g.58423432C>T						ZNF417_uc010yhm.2_Silent_p.S10S|ZNF417_uc002qqr.3_Silent_p.S52S	p.S53S	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	1	358	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	53			KRAB.		B4DEU1	Silent	SNP	ENST00000312026.5	37	c.159G>A	CCDS12965.1																																																																																				0.498	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		T	58423432	C	T	58423432	2	4	10	1	0	0	0	0	0	0	0	1	17891	755	27	1		1	ZNF417	19	58423432	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	6792935	58423432	705551	82	733											
XKR7	343702	broad.mit.edu	37	chr20	30584453	30584453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacctgttcagcattgcCgcccgcggcctggccttcgc	3	9	12	17	4	1	0	1	0	0	0	2	0	1	0	5	3	2	3	5	3	0	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:30584453C>T	ENST00000562532.2	+	3	1107	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	311						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGCATTGCCGCCCGCGGCC	0.637																																						uc002wxe.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(931-933)gcC>gcT		Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.							58	58	58					20																	30584453		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584453C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.933C>T	20.37:g.30584453C>T							p.A311A	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		2	1107	+			311					Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.933C>T	CCDS33459.1																																																																																				0.637	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		T	30584453	C	T	30584453	2	4	10	1	0	0	0	0	0	0	0	1	17433	639	23	2		2	XKR7	20	30584453	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08		30584453	32441067	83	734											
KIAA1755	85449	broad.mit.edu	37	chr20	36869819	36869819	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgctcccatatgtcctGcccttacccttggccaaact	7	13	5	16	0	0	0	0	0	0	0	2	0	2	0	5	1	5	1	5	1	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:36869819G>C	ENST00000279024.4	-	3	985	c.714C>G	c.(712-714)ggC>ggG	p.G238G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	238										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CATATGTCCTGCCCTTACCCT	0.582																																						uc002xhy.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(712-714)ggC>ggG		Homo sapiens KIAA1755 (KIAA1755), mRNA.							135	117	123					20																	36869819		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869819G>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.714C>G	20.37:g.36869819G>C						KIAA1755_uc002xhz.1_Silent_p.G238G	p.G238G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			2	986	-		Myeloproliferative disorder(115;0.00874)	238					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.714C>G	CCDS33467.1																																																																																				0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		C	36869819	G	C	36869819	2	2	10	1	0	0	0	0	0	0	0	1	8257	1306	46	5		5	KIAA1755	20	36869819	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	6285366	36869819	26155701	84	735											
TOX2	84969	broad.mit.edu	37	chr20	42695486	42695486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagtggggagtgtggcatCagcacctgcaggttagtcct	7	9	14	11	0	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	1	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:42695486C>G	ENST00000358131.5	+	7	1627	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	TOX2_ENST00000372999.1_Missense_Mutation_p.I449M|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Missense_Mutation_p.I449M|TOX2_ENST00000341197.4_Missense_Mutation_p.I491M	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	473					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGTGTGGCATCAGCACCTGCA	0.647																																						uc010ggo.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1471-1473)atC>atG		Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.							117	106	110					20																	42695486		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695486C>G	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1419C>G	20.37:g.42695486C>G	ENSP00000350849:p.Ile473Met					TOX2_uc002xle.4_Missense_Mutation_p.I449M|TOX2_uc010ggp.3_Missense_Mutation_p.I449M|TOX2_uc002xlf.4_Missense_Mutation_p.I473M|TOX2_uc010zwk.2_Missense_Mutation_p.I369M	p.I491M	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1513	+		Myeloproliferative disorder(115;0.00452)	473					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1473C>G	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268951|4.268951	0.80469|0.80469	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.15952|.	2.68;2.68;2.68;2.38;2.43|.	5.51|5.51	2.19|2.19	0.27852|0.27852	.|.	0.736765|.	0.13192|.	N|.	0.406608|.	T|.	0.33498|.	0.0865|.	L|L	0.27053|0.27053	0.805|0.805	0.23287|0.23287	N|N	0.99797|0.99797	B;P;B;B|.	0.37636|.	0.119;0.603;0.046;0.046|.	B;B;B;B|.	0.30495|.	0.037;0.116;0.033;0.017|.	T|.	0.27739|.	-1.0065|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	7.453|7.453	0.27250|0.27250	0.0:0.6141:0.0:0.3859|0.0:0.6141:0.0:0.3859	.|.	369;491;473;449|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	M|X	491;449;449;473;369|98	ENSP00000344724:I491M;ENSP00000390278:I449M;ENSP00000362090:I449M;ENSP00000350849:I473M;ENSP00000396777:I369M|.	ENSP00000344724:I491M|ENSP00000362083:S98X	I|S	+|+	3|2	3|0	TOX2|TOX2	42128900|42128900	1.000000|1.000000	0.71417|0.71417	0.716000|0.716000	0.30569|0.30569	0.881000|0.881000	0.50899|0.50899	1.171000|1.171000	0.31896|0.31896	0.677000|0.677000	0.31305|0.31305	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			G	42695486	C	G	42695486	3	3	10	1	0	0	0	0	1	0	0	0	16375	816	29	5	1633	5	TOX2	20	42695486	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	5825667	42695486	20330034	85	736											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506781	44506781	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtggacatggctggCtcttcagtggacgttcagct	6	11	13	11	1	3	0	2	0	1	0	3	2	3	2	1	5	1	4	1	5	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:44506781C>G	ENST00000255152.2	+	2	1793	c.1584C>G	c.(1582-1584)ggC>ggG	p.G528G	ZSWIM3_ENST00000454862.2_Silent_p.G522G	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	528							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACATGGCTGGCTCTTCAGTGG	0.547																																						uc002xqd.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1582-1584)ggC>ggG		Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.							86	73	78					20																	44506781		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44506781C>G	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1584C>G	20.37:g.44506781C>G						ZSWIM3_uc010zxg.2_Silent_p.G522G	p.G528G	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			1	1829	+		Myeloproliferative disorder(115;0.0122)	528					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.1584C>G	CCDS13381.1																																																																																				0.547	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		G	44506781	C	G	44506781	2	3	10	1	0	0	0	0	0	0	0	1	18239	784	28	5		5	ZSWIM3	20	44506781	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	1811295	44506781	18518739	86	737											
TSHZ2	128553	broad.mit.edu	37	chr20	51871857	51871857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaagaaagtccccaCgaagaggcctcatctttcag	12	8	11	10	1	3	2	2	0	1	2	4	4	4	3	3	2	0	0	3	2	3	1	rs143642849		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000329613.6_Silent_p.H617H|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517																																						uc002xwo.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1858-1860)caC>caT		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							78	81	80					20																	51871857		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871857C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1860C>T	20.37:g.51871857C>T						TSHZ2_uc021wex.1_Silent_p.H617H	p.H620H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	2747	+			620					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1860C>T	CCDS33490.1																																																																																				0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51871857	C	T	51871857	2	4	10	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51871857	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	7365076	51871857	11153663	87	738											
TIMP3	7078	broad.mit.edu	37	chr22	33255261	33255261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggttaccctggctaccAgtccaaacactacgcctgca	9	10	7	15	2	0	0	0	0	0	0	2	0	1	0	4	2	5	3	4	2	4	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:33255261A>C	ENST00000266085.6	+	5	834	c.533A>C	c.(532-534)cAg>cCg	p.Q178P	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	178	Mediates interaction with EFEMP1.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCTGGCTACCAGTCCAAACAC	0.557																																						uc003anb.3																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(532-534)cAg>cCg		Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.							117	97	104					22																	33255261		2203	4300	6503	SO:0001583	missense	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255261A>C		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.533A>C	22.37:g.33255261A>C	ENSP00000266085:p.Gln178Pro					SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	p.Q178P	NM_000362	NP_000353	P35625	TIMP3_HUMAN			4	1719	+			178			Mediates interaction with EFEMP1.		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	c.533A>C	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487002	0.44249	.	.	ENSG00000100234	ENST00000266085;ENST00000538671	D	0.94758	-3.51	4.81	4.81	0.61882	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.055092	0.85682	D	0.000000	D	0.96667	0.8912	M	0.74647	2.275	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	D	0.97232	0.9885	10	0.87932	D	0	-19.6707	14.357	0.66745	1.0:0.0:0.0:0.0	.	178	P35625	TIMP3_HUMAN	P	178;112	ENSP00000266085:Q178P	ENSP00000266085:Q178P	Q	+	2	0	TIMP3	31585261	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	9.335000	0.96500	1.776000	0.52262	0.459000	0.35465	CAG		0.557	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		C	33255261	A	C	33255261	3	2	10	1	0	0	0	0	1	0	0	0	15916	188	7	5	551	5	TIMP3	22	33255261	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		33255261	18049305	88	739											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	10	5	12	14	2	0	0	0	0	0	0	0	1	0	1	3	3	3	4	3	3	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						uc003bav.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.							83	76	79					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN			2	363	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		A	42071074	G	A	42071074	3	1	10	1	0	0	0	0	1	0	0	0	10410	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	8815813	42071074	9233492	89	740											
PRPS2	5634	broad.mit.edu	37	chrX	12817486	12817486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccgtgtttcccatacGcccgacaagataaaaaggac	13	8	8	12	3	0	2	0	1	0	1	2	4	2	3	3	1	1	1	3	1	5	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:12817486G>A	ENST00000380668.5	+	2	411	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PRPS2_ENST00000398491.2_Missense_Mutation_p.A95T|PRPS2_ENST00000489404.1_Missense_Mutation_p.A95T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	95					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTTCCCATACGCCCGACAAGA	0.468																																						uc004cva.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(283-285)Gcc>Acc		Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.							129	115	119					X																	12817486		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12817486G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.283G>A	X.37:g.12817486G>A	ENSP00000370043:p.Ala95Thr					PRPS2_uc004cvb.3_Missense_Mutation_p.A95T|PRPS2_uc010nec.3_Missense_Mutation_p.A28T	p.A95T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN			1	426	+			95					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.283G>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788525	0.90367	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630	D;D;D;D;D	0.92647	-3.08;-3.06;-3.06;-3.08;-3.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.951	D	0.98720	1.0708	10	0.87932	D	0	-20.9995	19.1045	0.93287	0.0:0.0:1.0:0.0	.	95;95	P11908;P11908-2	PRPS2_HUMAN;.	T	95;95;95;95;5	ENSP00000370038:A95T;ENSP00000370043:A95T;ENSP00000381504:A95T;ENSP00000419380:A95T;ENSP00000418911:A5T	ENSP00000370038:A95T	A	+	1	0	PRPS2	12727407	1.000000	0.71417	0.783000	0.31826	0.551000	0.35334	9.273000	0.95719	2.462000	0.83206	0.513000	0.50165	GCC		0.468	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		A	12817486	G	A	12817486	3	1	10	1	0	0	0	0	1	0	0	0	12580	1087	38	1	289	1	PRPS2	23	12817486	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		12817486	142453074	90	741											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142412	49142412	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaggattcccccctcCtcccctctctgtggcctggg	3	10	9	19	0	2	0	1	0	1	0	6	1	5	1	8	3	0	0	8	3	0	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:49142412C>G	ENST00000055335.6	+	4	1276	c.1260C>G	c.(1258-1260)tcC>tcG	p.S420S	PPP1R3F_ENST00000495799.1_Silent_p.S74S|PPP1R3F_ENST00000466508.1_Silent_p.S74S|PPP1R3F_ENST00000376188.1_Silent_p.S74S|PPP1R3F_ENST00000438316.1_Silent_p.S91S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	420					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TTCCCCCCTCCTCCCCTCTCT	0.662																																						uc004dnh.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1258-1260)tcC>tcG		Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.							29	27	27					X																	49142412		2203	4300	6503	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49142412C>G		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1260C>G	X.37:g.49142412C>G						PPP1R3F_uc004dni.3_Silent_p.S74S|PPP1R3F_uc011mnd.2_Silent_p.S91S|PPP1R3F_uc004dnj.2_Silent_p.S74S	p.S420S	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			3	1287	+	Ovarian(276;0.236)		420					A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.1260C>G	CCDS35254.1																																																																																				0.662	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		G	49142412	C	G	49142412	2	3	10	1	0	0	0	0	0	0	0	1	12375	668	24	5		5	PPP1R3F	23	49142412	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	36324926	49142412	106128148	91	742											
AWAT2	158835	broad.mit.edu	37	chrX	69262197	69262197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgtgctgatcatagagGtccgtctccccaaaggcata	13	9	9	10	1	2	2	1	1	1	1	4	2	3	2	3	2	1	2	3	2	5	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:69262197G>A	ENST00000276101.3	-	6	692	c.687C>T	c.(685-687)gaC>gaT	p.D229D		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	229					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATCATAGAGGTCCGTCTCCC	0.502																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(685-687)gaC>gaT		Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.							104	87	93					X																	69262197		2203	4300	6503	SO:0001819	synonymous_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69262197G>A	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.687C>T	X.37:g.69262197G>A							p.D229D	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			5	693	-			229					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.687C>T	CCDS35320.1																																																																																				0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		A	69262197	G	A	69262197	2	1	10	1	0	0	0	0	0	0	0	1	1235	1252	44	3		3	AWAT2	23	69262197	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	20119785	69262197	86008363	92	743											
KLHL4	56062	broad.mit.edu	37	chrX	86873003	86873003	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtcttctgcagctgactCaggtcattgatgtttgctcc	5	16	9	11	0	4	2	2	2	2	0	5	2	5	2	1	1	3	4	1	1	0	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:86873003C>T	ENST00000373119.4	+	4	941	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Q266*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	266						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTGACTCAGGTCATTGA	0.418																																						uc004efa.2																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(796-798)Cag>Tag		Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.							98	80	86					X																	86873003		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86873003C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.796C>T	X.37:g.86873003C>T	ENSP00000362211:p.Gln266*					KLHL4_uc004efb.2_Nonsense_Mutation_p.Q266*	p.Q266*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN			3	978	+			266					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.796C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	37	6.416994	0.97550	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.74	4.74	0.60224	.	0.207411	0.41712	D	0.000832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000362206:Q266X	Q	+	1	0	KLHL4	86759659	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.460000	0.66691	1.960000	0.56953	0.502000	0.49764	CAG		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			T	86873003	C	T	86873003	4	4	10	1	0	0	0	0	0	1	0	0	8391	827	29	3	810	3	KLHL4	23	86873003	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	17610806	86873003	68397557	93	744											
MCART6	401612	broad.mit.edu	37	chrX	103349047	103349047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctctttcctggagtgCgacttcctctgcaggaagtc	6	13	10	12	1	3	0	1	0	2	0	6	3	5	2	2	2	3	2	2	2	1	3	rs138837474		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:103349047C>T	ENST00000357421.4	-	2	1074	c.894G>A	c.(892-894)tcG>tcA	p.S298S		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	298					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TCCTGGAGTGCGACTTCCTCT	0.502													C|||	1	0.000264901	8e-04	0	3775	,	,		14689	0		0	False		,,,				2504	0					uc022cbz.1																			0											c.(892-894)tcG>tcA		Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.		C		3,3832		0,2,1,1630,570	52	47	49		894	-3.5	0	X	dbSNP_134	49	1,6727		0,0,1,2428,1871	no	coding-synonymous	MCART6	NM_001012755.3		0,2,2,4058,2441	TT,TC,T,CC,C		0.0149,0.0782,0.0379		298/308	103349047	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349047C>T		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.894G>A	X.37:g.103349047C>T						SLC25A53_uc004elu.3_Silent_p.S298S	p.S298S	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN			0	894	-			298					B2RTT9	Silent	SNP	ENST00000357421.4	37	c.894G>A	CCDS35363.1																																																																																				0.502	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		T	103349047	C	T	103349047	2	4	10	1	0	0	0	0	0	0	0	1	9371	755	27	1		1	MCART6	23	103349047	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	16476044	103349047	51921513	94	745											
KLHL13	90293	broad.mit.edu	37	chrX	117033178	117033178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtattcacagcttaggAcatcatcataatcacttgtt	14	14	5	8	0	4	0	4	0	0	0	4	1	4	1	0	1	1	3	0	1	5	7			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:117033178A>T	ENST00000262820.3	-	7	2570	c.1661T>A	c.(1660-1662)gTc>gAc	p.V554D	KLHL13_ENST00000371878.1_Missense_Mutation_p.V503D|KLHL13_ENST00000469946.1_Missense_Mutation_p.V503D|KLHL13_ENST00000539496.1_Missense_Mutation_p.V557D|KLHL13_ENST00000540167.1_Missense_Mutation_p.V538D|KLHL13_ENST00000371882.1_Missense_Mutation_p.V503D|KLHL13_ENST00000371876.1_Missense_Mutation_p.V503D|KLHL13_ENST00000541812.1_Missense_Mutation_p.V538D|KLHL13_ENST00000545703.1_Missense_Mutation_p.V512D	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	554					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAGCTTAGGACATCATCATA	0.463																																						uc011mtp.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1669-1671)gTc>gAc		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.							228	209	216					X																	117033178		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033178A>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1661T>A	X.37:g.117033178A>T	ENSP00000262820:p.Val554Asp					KLHL13_uc004eqk.3_Missense_Mutation_p.V503D|KLHL13_uc004eql.3_Missense_Mutation_p.V554D|KLHL13_uc011mtn.2_Missense_Mutation_p.V394D|KLHL13_uc011mto.2_Missense_Mutation_p.V548D|KLHL13_uc011mtq.2_Missense_Mutation_p.V538D|KLHL13_uc004eqm.3_Missense_Mutation_p.V512D|KLHL13_uc022cde.1_Missense_Mutation_p.V538D	p.V557D	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			7	1803	-			554					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1670T>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.570003	0.65765	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.995;0.996	D;D;D;D	0.83275	0.952;0.996;0.965;0.958	D	0.91858	0.5497	10	0.87932	D	0	.	14.2106	0.65762	1.0:0.0:0.0:0.0	.	538;557;548;554	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	D	503;503;503;503;538;538;557;554;512;503	ENSP00000360949:V503D;ENSP00000360943:V503D;ENSP00000360945:V503D;ENSP00000412640:V503D;ENSP00000444450:V538D;ENSP00000441029:V538D;ENSP00000443191:V557D;ENSP00000262820:V554D;ENSP00000440707:V512D;ENSP00000419803:V503D	ENSP00000262820:V554D	V	-	2	0	KLHL13	116917206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.931000	0.55961	0.486000	0.48141	GTC		0.463	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117033178	A	T	117033178	3	4	10	1	0	0	0	0	1	0	0	0	8369	275	10	5	310	5	KLHL13	23	117033178	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	13684131	117033178	38237382	95	746											
THOC2	57187	broad.mit.edu	37	chrX	122820484	122820484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattctaacaaagatataaAgaagtcatcgtgttctggcc	15	11	8	7	1	3	3	1	0	2	3	4	3	3	3	1	1	1	1	1	1	6	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:122820484A>G	ENST00000245838.8	-	8	713	c.682T>C	c.(682-684)Ttt>Ctt	p.F228L	THOC2_ENST00000491737.1_Missense_Mutation_p.F113L|THOC2_ENST00000355725.4_Missense_Mutation_p.F228L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	228					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGATATAAAGAAGTCATCG	0.368																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(682-684)Ttt>Ctt		Homo sapiens THO complex 2 (THOC2), mRNA.							134	121	125					X																	122820484		1859	4088	5947	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122820484A>G	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.682T>C	X.37:g.122820484A>G	ENSP00000245838:p.Phe228Leu					THOC2_uc011muh.1_Missense_Mutation_p.F149L|THOC2_uc011mui.1_Missense_Mutation_p.F113L	p.F228L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			7	714	-			228					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.682T>C	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962163	0.92791	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	T	0.77864	0.4194	M	0.73598	2.24	0.80722	D	1	D;D	0.62365	0.991;0.99	P;D	0.67548	0.656;0.952	T	0.78745	-0.2084	9	0.46703	T	0.11	-13.1771	15.3078	0.74008	1.0:0.0:0.0:0.0	.	149;228	B4DKZ6;Q8NI27	.;THOC2_HUMAN	L	228;228;113;149	.	ENSP00000245838:F228L	F	-	1	0	THOC2	122648165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	1.999000	0.58509	0.481000	0.45027	TTT		0.368	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			G	122820484	A	G	122820484	3	3	10	1	0	0	0	0	1	0	0	0	15862	72	3	4	4223	4	THOC2	23	122820484	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	5787306	122820484	32450076	96	747											
CPSF3L	54973	broad.mit.edu	37	chr1	1248063	1248063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccgtctcgccattggccgGcatgtagcagttgacccctg	6	9	11	15	3	1	1	0	1	1	0	2	1	1	1	5	2	1	4	5	2	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:1248063G>A	ENST00000435064.1	-	13	1394	c.1312C>T	c.(1312-1314)Ccg>Tcg	p.P438S	CPSF3L_ENST00000545578.1_Missense_Mutation_p.P409S|CPSF3L_ENST00000450926.2_Missense_Mutation_p.P416S|CPSF3L_ENST00000540437.1_Missense_Mutation_p.P444S|CPSF3L_ENST00000419704.1_Missense_Mutation_p.P337S|CPSF3L_ENST00000411962.1_Missense_Mutation_p.P340S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.P180S	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	438					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCATTGGCCGGCATGTAGCAG	0.716																																						uc001aef.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1330-1332)Ccg>Tcg		Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.							37	41	39					1																	1248063		2201	4290	6491	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248063G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1312C>T	1.37:g.1248063G>A	ENSP00000413493:p.Pro438Ser					CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.P438S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S	p.P444S			Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	14	1843	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	438					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.1330C>T	CCDS21.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963339	0.53507	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.51	5.05	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.86324	0.1694	10	0.87932	D	0	-33.1706	11.8641	0.52482	0.0848:0.0:0.9152:0.0	.	416;409;340;337;444;438	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	S	438;340;337;444;416;409	ENSP00000413493:P438S;ENSP00000404886:P337S;ENSP00000445001:P444S;ENSP00000392848:P416S;ENSP00000444672:P409S	ENSP00000400548:P340S	P	-	1	0	CPSF3L	1237926	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	8.368000	0.90115	2.349000	0.79799	0.462000	0.41574	CCG		0.716	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		A	1248063	G	A	1248063	3	1	11	1	0	0	0	0	1	0	0	0	3827	1203	42	3	510	3	CPSF3L	1	1248063	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		1248063	248002558	1	748											
KIF17	57576	broad.mit.edu	37	chr1	21014370	21014370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaggcgggtactcagcGctgctggcaaactcagccct	10	6	12	13	2	2	0	2	0	0	0	2	0	2	0	1	3	6	5	1	3	3	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:21014370G>A	ENST00000247986.2	-	8	1759	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.S483S|KIF17_ENST00000375044.1_Silent_p.S383S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	483					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTACTCAGCGCTGCTGGCAA	0.532																																						uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1447-1449)agC>agT		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.							72	67	69					1																	21014370		2200	4297	6497	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014370G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1449C>T	1.37:g.21014370G>A						KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.S483S	p.S483S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	7	1567	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	483					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1449C>T	CCDS213.1																																																																																				0.532	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21014370	G	A	21014370	2	1	11	1	0	0	0	0	0	0	0	1	8279	1078	38	1		1	KIF17	1	21014370	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	19766307	21014370	228236251	2	749											
FOXJ3	22887	broad.mit.edu	37	chr1	42744223	42744223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcaaggagtgcattcttCttagaaattcctgttccatg	9	14	10	8	0	3	1	1	0	2	1	5	2	5	2	2	2	1	2	2	2	3	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:42744223C>T	ENST00000372572.1	-	5	476	c.165G>A	c.(163-165)aaG>aaA	p.K55K	FOXJ3_ENST00000545068.1_Silent_p.K55K|FOXJ3_ENST00000372573.1_Silent_p.K55K|FOXJ3_ENST00000361346.1_Silent_p.K55K|FOXJ3_ENST00000361776.1_Silent_p.K55K	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	55					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCATTCTTCTTAGAAATTC	0.453																																						uc001che.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(163-165)aaG>aaA		Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.							208	202	204					1																	42744223		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42744223C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.165G>A	1.37:g.42744223C>T						FOXJ3_uc001chf.3_Silent_p.K55K|FOXJ3_uc001chh.2_Silent_p.K55K|FOXJ3_uc001chg.3_Silent_p.K55K	p.K55K	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN			4	477	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	55					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.165G>A	CCDS30689.1																																																																																				0.453	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		T	42744223	C	T	42744223	2	4	11	1	0	0	0	0	0	0	0	1	6013	912	32	3		3	FOXJ3	1	42744223	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	21729853	42744223	206506398	3	750											
VCAM1	7412	broad.mit.edu	37	chr1	101197065	101197066	+	Frame_Shift_Del	DEL	TA	TA	-																															ggcagagtacgcaaacacttTatgtcaatggtaagtacata																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:101197065_101197066delTA	ENST00000294728.2	+	6	1617_1618	c.1516_1517delTA	c.(1516-1518)tatfs	p.Y506fs	VCAM1_ENST00000370119.4_Frame_Shift_Del_p.Y444fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.Y414fs|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	506	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAAACACTTTATGTCAATGGT	0.366																																						uc001dti.3																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1516-1518)tatfs		Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	Carvedilol(DB01136)																																			SO:0001589	frameshift_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101197065_101197066delTA	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1516_1517delTA	1.37:g.101197065_101197066delTA	ENSP00000294728:p.Tyr506fs					VCAM1_uc010ouj.2_Frame_Shift_Del_p.Y444fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.Y414fs	p.Y506fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1737_1738	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	506			Ig-like C2-type 5.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Frame_Shift_Del	DEL	ENST00000294728.2	37	c.1516_1517delTA	CCDS773.1																																																																																				0.366	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		-	101197066	TA	-	101197065	7	5	11	1	0	1	0	1	0	0	0	0	17134	1754	61	0	1538	0	VCAM1	1	101197065	Frame_Shift_Del	DEL	TA	TCGA-06-0124-01A-01D-1490-08	58452842	101197065	148053556	4	751											
IGSF3	3321	broad.mit.edu	37	chr1	117159063	117159063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacggtgacctgccgCtgtgctgacaccacacctac	8	8	9	16	2	0	3	0	3	0	0	1	3	1	3	5	1	4	2	5	1	2	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:117159063C>T	ENST00000369486.3	-	3	825	c.60G>A	c.(58-60)caG>caA	p.Q20Q	IGSF3_ENST00000369483.1_Silent_p.Q20Q|IGSF3_ENST00000318837.6_Silent_p.Q20Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	20	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGACCTGCCGCTGTGCTGACA	0.527																																						uc001egq.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(58-60)caG>caA		Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.							23	23	23					1																	117159063		2059	4084	6143	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117159063C>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.60G>A	1.37:g.117159063C>T						IGSF3_uc001egr.1_Silent_p.Q20Q	p.Q20Q	NM_001542	NP_001533	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	2	765	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	20			Ig-like C2-type 1.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.60G>A	CCDS30813.1																																																																																				0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117159063	C	T	117159063	2	4	11	1	0	0	0	0	0	0	0	1	7601	796	28	3		3	IGSF3	1	117159063	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	15961998	117159063	132091558	5	752											
FLG	2312	broad.mit.edu	37	chr1	152275657	152275657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatcgcggtgagaggatccgGggtgtctggagccatctctt	6	11	15	9	3	2	1	0	1	2	1	5	4	3	3	2	5	1	0	2	5	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:152275657G>T	ENST00000368799.1	-	3	11740	c.11705C>A	c.(11704-11706)cCc>cAc	p.P3902H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATCCGGGGTGTCTGGA	0.512									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)	p.P3902L(2)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11704-11706)cCc>cAc		Homo sapiens filaggrin (FLG), mRNA.							90	92	91					1																	152275657		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275657G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11705C>A	1.37:g.152275657G>T	ENSP00000357789:p.Pro3902His						p.P3902H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11741	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11705C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019496	0.19355	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	2.21	2.21	0.28008	.	.	.	.	.	T	0.01870	0.0059	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	P	0.61722	0.893	T	0.54227	-0.8325	9	0.33141	T	0.24	.	8.0282	0.30448	0.0:0.0:1.0:0.0	.	3902	P20930	FILA_HUMAN	H	3902	ENSP00000357789:P3902H	ENSP00000357789:P3902H	P	-	2	0	FLG	150542281	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	2.522000	0.45572	1.535000	0.49220	0.552000	0.68991	CCC		0.512	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152275657	G	T	152275657	3	4	11	1	0	0	0	0	1	0	0	0	5922	1232	43	5	484	5	FLG	1	152275657	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	35116594	152275657	96974964	6	753											
SELE	6401	broad.mit.edu	37	chr1	169698774	169698774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttttggaaacattccacGaacccattggctggatttgt	9	13	11	8	1	0	0	0	0	0	0	1	3	1	2	2	4	2	2	2	4	2	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:169698774G>A	ENST00000333360.7	-	6	895	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SELE_ENST00000367775.1_Silent_p.F190F|SELE_ENST00000367776.1_Silent_p.F252F|SELE_ENST00000367782.4_Silent_p.F252F|SELE_ENST00000367774.1_Silent_p.F252F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.F252F|SELE_ENST00000367777.1_Silent_p.F252F|SELE_ENST00000367780.4_Silent_p.F190F|SELE_ENST00000367781.4_Silent_p.F252F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	252	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.F252F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACATTCCACGAACCCATTGG	0.428																																						uc001ggm.4																			1	Substitution - coding silent(1)	p.F252F(2)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(754-756)ttC>ttT		Homo sapiens selectin E (SELE), mRNA.							118	112	114					1																	169698774		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698774G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.756C>T	1.37:g.169698774G>A						C1orf112_uc001ggj.3_Intron	p.F252F	NM_000450	NP_000441	P16581	LYAM2_HUMAN			5	913	-	all_hematologic(923;0.208)		252			Sushi 2.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.756C>T	CCDS1283.1																																																																																				0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169698774	G	A	169698774	2	1	11	1	0	0	0	0	0	0	0	1	14013	1049	37	2		2	SELE	1	169698774	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	17423117	169698774	79551847	7	754											
APOB	338	broad.mit.edu	37	chr2	21239331	21239331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaggtggcccatgagggcGacctcagtaattttcttgtt	7	14	11	9	1	2	1	1	1	1	0	2	2	2	1	2	3	0	2	2	3	2	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:21239331G>A	ENST00000233242.1	-	21	3439	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1104					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGAGGGCGACCTCAGTAA	0.478																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3310-3312)gtC>gtT		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						86	83	84					2																	21239331		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21239331G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3312C>T	2.37:g.21239331G>A							p.V1104V	NM_000384	NP_000375	P04114	APOB_HUMAN			20	3440	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1104					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3312C>T	CCDS1703.1																																																																																				0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21239331	G	A	21239331	2	1	11	1	0	0	0	0	0	0	0	1	785	1045	37	2		2	APOB	2	21239331	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		21239331	221960042	8	755											
CD207	50489	broad.mit.edu	37	chr2	71058942	71058942	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccccccgctgttttataCagaaactcctgtaggaaaga	12	10	8	11	1	0	2	0	0	0	2	2	3	2	3	4	1	2	3	4	1	5	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:71058942C>G	ENST00000410009.3	-	5	771	c.726G>C	c.(724-726)ctG>ctC	p.L242L		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGTTTTATACAGAAACTCCT	0.537																																						uc002shg.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(724-726)ctG>ctC		Homo sapiens CD207 molecule, langerin (CD207), mRNA.							89	91	90					2																	71058942		1934	4144	6078	SO:0001819	synonymous_variant	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058942C>G	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.726G>C	2.37:g.71058942C>G							p.L242L	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			4	773	-			242			C-type lectin.			Silent	SNP	ENST00000410009.3	37	c.726G>C																																																																																					0.537	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		G	71058942	C	G	71058942	2	3	11	1	0	0	0	0	0	0	0	1	2983	465	17	5		5	CD207	2	71058942	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	49819611	71058942	172140431	9	756											
ZAP70	7535	broad.mit.edu	37	chr2	98351172	98351172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcgtgtaccgcatgcGcaagtatggccgcccctgcc	6	6	13	16	4	0	0	0	0	0	0	0	0	0	0	6	2	3	4	6	2	3	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:98351172G>A	ENST00000264972.5	+	9	1294	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R234H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R53H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TACCGCATGCGCAAGTATGGC	0.637																																						uc002syd.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1078-1080)cGc>cAc		Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.							82	71	75					2																	98351172		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351172G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1079G>A	2.37:g.98351172G>A	ENSP00000264972:p.Arg360His					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	p.R360H	NM_001079	NP_997402	P43403	ZAP70_HUMAN			8	1286	+			360			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1079G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558336	0.86231	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62232	0.04;0.04;0.04	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000235	T	0.63965	0.2556	L	0.31526	0.94	0.41929	D	0.990558	D;D	0.76494	0.999;0.995	P;P	0.60068	0.868;0.832	T	0.66618	-0.5878	10	0.72032	D	0.01	.	10.5149	0.44883	0.0883:0.0:0.9117:0.0	.	234;360	P43403-3;P43403	.;ZAP70_HUMAN	H	360;234;53	ENSP00000264972:R360H;ENSP00000411141:R234H;ENSP00000400475:R53H	ENSP00000264972:R360H	R	+	2	0	ZAP70	97717604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.382000	0.52463	2.723000	0.93209	0.655000	0.94253	CGC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98351172	G	A	98351172	3	1	11	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1105	1	ZAP70	2	98351172	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	27292230	98351172	144848201	10	757											
MYO7B	4648	broad.mit.edu	37	chr2	128342397	128342399	+	In_Frame_Del	DEL	CAA	CAA	-																															aagctgaacagcgtccatgcCaacaacaaggccttcctaca																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:128342397_128342399delCAA	ENST00000409816.2	+	13	1631_1633	c.1599_1601delCAA	c.(1597-1602)gccaac>gcc	p.N535del	MYO7B_ENST00000389524.4_In_Frame_Del_p.N535del|MYO7B_ENST00000428314.1_In_Frame_Del_p.N535del			Q6PIF6	MYO7B_HUMAN	myosin VIIB	535	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCGTCCATGCCAACAACAAGGCC	0.571																																						uc002top.3																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(1597-1602)gccaac>gcc		Homo sapiens myosin VIIB (MYO7B), mRNA.																																				SO:0001651	inframe_deletion	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128342397_128342399delCAA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1599_1601delCAA	2.37:g.128342403_128342405delCAA	ENSP00000386461:p.Asn535del						p.N535del	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	13	1652_1654	+	Colorectal(110;0.1)		535			Myosin head-like.		Q14786|Q8TEE1	In_Frame_Del	DEL	ENST00000409816.2	37	c.1599_1601delCAA	CCDS46405.1																																																																																				0.571	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		-	128342399	CAA	-	128342397	7	5	11	1	0	1	0	1	0	0	0	0	10083	581	21	0	1649	0	MYO7B	2	128342397	In_Frame_Del	DEL	CAA	TCGA-06-0124-01A-01D-1490-08	29991225	128342397	114856976	11	758											
MORC1	27136	broad.mit.edu	37	chr3	108754309	108754309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaaacaatgttaaatttCtattatcttttaaaaaaaaa	20	15	2	4	0	2	0	0	0	2	0	2	0	2	0	0	0	2	2	0	0	12	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:108754309C>T	ENST00000483760.1	-	15	1380	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	MORC1_ENST00000232603.5_Missense_Mutation_p.R446K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTAAATTTCTATTATCTTT	0.279																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1336-1338)aGa>aAa		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							32	30	31					3																	108754309		2200	4295	6495	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108754309C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1337G>A	3.37:g.108754309C>T	ENSP00000417282:p.Arg446Lys					MORC1_uc011bhn.2_Missense_Mutation_p.R446K	p.R446K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			14	1424	-			446						Missense_Mutation	SNP	ENST00000483760.1	37	c.1337G>A		.	.	.	.	.	.	.	.	.	.	C	8.690	0.907261	0.17833	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05199	3.48;3.49	4.57	3.69	0.42338	.	0.000000	0.52532	D	0.000076	T	0.04272	0.0118	L	0.29908	0.895	0.26714	N	0.970914	B;B	0.32071	0.355;0.22	B;B	0.29267	0.1;0.074	T	0.37888	-0.9686	10	0.19147	T	0.46	-5.1625	7.8556	0.29480	0.0:0.8901:0.0:0.1099	.	446;446	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	446	ENSP00000232603:R446K;ENSP00000417282:R446K	ENSP00000232603:R446K	R	-	2	0	MORC1	110236999	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.179000	0.42528	2.540000	0.85666	0.591000	0.81541	AGA		0.279	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			T	108754309	C	T	108754309	3	4	11	1	0	0	0	0	1	0	0	0	9701	913	32	3	1673	3	MORC1	3	108754309	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08		108754309	89268121	12	759											
BOD1L	259282	broad.mit.edu	37	chr4	13606401	13606401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcaaatgtggtgtttcaGaatcatctttctttagatgc	9	19	7	6	0	5	2	3	0	2	2	5	2	5	2	0	1	1	1	0	1	3	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:13606401G>C	ENST00000040738.5	-	10	2258	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	708	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGTGTTTCAGAATCATCTTT	0.398																																						uc003gmz.1																			0											c.(2122-2124)tCt>tGt		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							171	178	176					4																	13606401		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606401G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2123C>G	4.37:g.13606401G>C	ENSP00000040738:p.Ser708Cys					BOD1L1_uc010idr.1_Missense_Mutation_p.S45C	p.S708C	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			9	2240	-			708			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2123C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923715	0.52653	.	.	ENSG00000038219	ENST00000040738	T	0.08282	3.11	5.71	3.97	0.46021	.	0.151693	0.31404	N	0.007706	T	0.06690	0.0171	L	0.29908	0.895	0.21719	N	0.999573	B	0.28760	0.221	B	0.22386	0.039	T	0.27434	-1.0074	10	0.56958	D	0.05	-4.614	9.9453	0.41604	0.0692:0.2613:0.6695:0.0	.	708	Q8NFC6	BOD1L_HUMAN	C	708	ENSP00000040738:S708C	ENSP00000040738:S708C	S	-	2	0	BOD1L	13215499	0.980000	0.34600	0.999000	0.59377	0.973000	0.67179	2.124000	0.42006	0.747000	0.32809	0.563000	0.77884	TCT		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13606401	G	C	13606401	3	2	11	1	0	0	0	0	1	0	0	0	1483	942	33	5	7100	5	BOD1L	4	13606401	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		13606401	177547875	13	760											
SEPSECS	51091	broad.mit.edu	37	chr4	25125641	25125641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatcttcagttttgtcaTaattgtcatcactctcttta	9	18	3	11	0	6	0	4	0	2	0	7	0	6	0	1	0	0	1	1	0	2	7			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25125641T>C	ENST00000382103.2	-	11	1490	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	SEPSECS_ENST00000302922.3_Missense_Mutation_p.Y394C|SEPSECS_ENST00000515272.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	473					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AGTTTTGTCATAATTGTCATC	0.378																																						uc003grg.3																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(1417-1419)tAt>tGt		Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	Pyridoxal Phosphate(DB00114)						258	229	239					4																	25125641		2203	4300	6503	SO:0001583	missense	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25125641T>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1418A>G	4.37:g.25125641T>C	ENSP00000371535:p.Tyr473Cys					SEPSECS_uc003gri.3_Missense_Mutation_p.Y472C|SEPSECS_uc003grh.3_Missense_Mutation_p.Y394C	p.Y473C	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN			10	1631	-		Breast(46;0.173)	473					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	c.1418A>G	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259370	0.23051	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82433	-1.61;-1.61	5.42	-6.36	0.01969	.	2.139170	0.01780	N	0.031710	T	0.62780	0.2456	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.52472	-0.8571	10	0.48119	T	0.1	-15.1612	3.5411	0.07811	0.1687:0.4362:0.1564:0.2387	.	472;413;473	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	C	394;473	ENSP00000305956:Y394C;ENSP00000371535:Y473C	ENSP00000305956:Y394C	Y	-	2	0	SEPSECS	24734739	0.000000	0.05858	0.000000	0.03702	0.879000	0.50718	-0.211000	0.09332	-0.687000	0.05162	0.482000	0.46254	TAT		0.378	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		C	25125641	T	C	25125641	3	2	11	1	0	0	0	0	1	0	0	0	14058	1406	49	4	91	4	SEPSECS	4	25125641	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	11519240	25125641	166028635	14	761											
SLC34A2	10568	broad.mit.edu	37	chr4	25664233	25664236	+	Splice_Site	DEL	AAGT	AAGT	-																															aaaagcaaagagaccaacaaAagtaagtgtcgctcgtttgt																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25664233_25664236delAAGT	ENST00000382051.3	+	2	161_162	c.111_112delAAGT	c.(109-114)aaaagt>aagt	p.S38fs	SLC34A2_ENST00000504570.1_Splice_Site_p.S38fs|SLC34A2_ENST00000503434.1_Splice_Site_p.S38fs	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	38					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGACCAACAAAAGTAAGTGTCGCT	0.534			T	ROS1	NSCLC																																	uc003grr.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.e2+1		Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25664233_25664236delAAGT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.112+1AAGT>-	4.37:g.25664237_25664240delAAGT						SLC34A2_uc003grs.3_Splice_Site_p.N38_splice|SLC34A2_uc010iev.3_Splice_Site_p.N38_splice	p.T38_splice	NM_006424	NP_006415	O95436	NPT2B_HUMAN			2	193	+		Breast(46;0.0503)	38					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Splice_Site	DEL	ENST00000382051.3	37	c.112_splice	CCDS3435.1																																																																																				0.534	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	Frame_Shift_Del	-	25664236	AAGT	-	25664233	8	5	11	1	0	1	0	1	0	0	1	0	14568	28	1	0	113	0	SLC34A2	4	25664233	Splice_Site	DEL	AAGT	TCGA-06-0124-01A-01D-1490-08	538592	25664233	165490043	15	762											
RBM47	54502	broad.mit.edu	37	chr4	40440818	40440818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgccagcagtgctgcctcGttgggcgcgcccgccacgcc	4	5	14	18	6	0	0	0	0	0	0	1	0	0	0	5	1	4	3	5	1	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:40440818G>A	ENST00000381793.2	-	3	489	c.93C>T	c.(91-93)aaC>aaT	p.N31N	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.N31N|RBM47_ENST00000514014.1_Intron|RBM47_ENST00000295971.7_Silent_p.N31N|RBM47_ENST00000381795.6_Silent_p.N31N			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	31					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGCTGCCTCGTTGGGCGCGC	0.697																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(91-93)aaC>aaT		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							8	10	9					4																	40440818		2144	4146	6290	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440818G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.93C>T	4.37:g.40440818G>A						RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	p.N31N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	803	-			31					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.93C>T	CCDS43223.1																																																																																				0.697	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		A	40440818	G	A	40440818	2	1	11	1	0	0	0	0	0	0	0	1	13141	1136	40	1		1	RBM47	4	40440818	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	14776585	40440818	150713458	16	763											
ADAM29	11086	broad.mit.edu	37	chr4	175896931	175896931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgttcacctacacagaCcagggtgctatccttgagga	9	10	10	12	0	1	2	1	1	0	1	2	3	2	3	4	2	2	2	4	2	2	4	rs368770585		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:175896931C>T	ENST00000359240.3	+	5	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D	ADAM29_ENST00000514159.1_Silent_p.D85D|ADAM29_ENST00000445694.1_Silent_p.D85D|ADAM29_ENST00000404450.4_Silent_p.D85D|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	85					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D85E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACACAGACCAGGGTGCTA	0.473																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			1	Substitution - Missense(1)	p.D85E(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(253-255)gaC>gaT		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							47	48	47					4																	175896931		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896931C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.255C>T	4.37:g.175896931C>T						ADAM29_uc003iud.3_Silent_p.D85D|ADAM29_uc010irr.3_Silent_p.D85D|ADAM29_uc011cki.2_Silent_p.D85D|ADAM29_uc021xuo.1_Silent_p.D85D	p.D85D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	925	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	85					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.255C>T	CCDS3823.1																																																																																				0.473	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175896931	C	T	175896931	2	4	11	1	0	0	0	0	0	0	0	1	247	506	18	3		3	ADAM29	4	175896931	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	135456113	175896931	15257345	17	764											
SLC6A19	340024	broad.mit.edu	37	chr5	1208942	1208942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcgccatcgggcagcGgctgcggcggggcagcctgg	4	5	20	12	5	0	0	0	0	0	0	2	1	0	1	2	7	3	4	2	7	0	1	rs201936518		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:1208942G>A	ENST00000304460.10	+	2	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	95					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATCGGGCAGCGGCTGCGGCGG	0.677													G|||	1	0.000199681	0	0.0014	5008	,	,		15675	0		0	False		,,,				2504	0					uc003jbw.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(283-285)cGg>cAg		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							51	51	51					5																	1208942		2203	4299	6502	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1208942G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.284G>A	5.37:g.1208942G>A	ENSP00000305302:p.Arg95Gln						p.R95Q	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	340	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		95					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.284G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242080	0.79912	.	.	ENSG00000174358	ENST00000304460	T	0.75367	-0.93	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.89570	0.6753	M	0.94142	3.5	0.58432	D	0.999996	D	0.67145	0.996	D	0.67548	0.952	D	0.93020	0.6439	10	0.87932	D	0	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	95	Q695T7	S6A19_HUMAN	Q	95	ENSP00000305302:R95Q	ENSP00000305302:R95Q	R	+	2	0	SLC6A19	1261942	1.000000	0.71417	0.999000	0.59377	0.217000	0.24651	9.537000	0.98070	2.091000	0.63221	0.485000	0.47835	CGG		0.677	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		A	1208942	G	A	1208942	3	1	11	1	0	0	0	0	1	0	0	0	14682	1116	39	2	290	2	SLC6A19	5	1208942	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		1208942	179706318	18	765											
BASP1	10409	broad.mit.edu	37	chr5	17275409	17275409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaagaaggccgagggCgcggcgacggaagaggaggg	14	0	20	7	5	0	3	0	0	0	3	0	7	0	5	1	6	0	0	1	6	4	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:17275409C>T	ENST00000322611.3	+	2	344	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	28					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGGCCGAGGGCGCGGCGACGG	0.627																																						uc003jfx.3																			0				endometrium(1)|lung(8)	9						c.(82-84)ggC>ggT		Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.							36	41	40					5																	17275409		2199	4294	6493	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275409C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.84C>T	5.37:g.17275409C>T						BASP1_uc021xws.1_Silent_p.G28G	p.G28G	NM_006317	NP_006308	P80723	BASP1_HUMAN			1	263	+			28					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.84C>T	CCDS3888.1																																																																																				0.627	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			T	17275409	C	T	17275409	2	4	11	1	0	0	0	0	0	0	0	1	1317	755	27	1		1	BASP1	5	17275409	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	16066467	17275409	163639851	19	766											
HCN1	348980	broad.mit.edu	37	chr5	45262205	45262205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgggacagtgctcctgcCccctgcctgaaggcccgttc	4	8	12	17	2	0	1	0	1	0	0	2	2	1	2	5	2	4	2	5	2	1	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:45262205C>A	ENST00000303230.4	-	8	2548	c.2491G>T	c.(2491-2493)Ggc>Tgc	p.G831C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	831					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCTCCTGCCCCCTGCCTGA	0.677																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2491-2493)Ggc>Tgc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							32	36	34					5																	45262205		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262205C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2491G>T	5.37:g.45262205C>A	ENSP00000307342:p.Gly831Cys						p.G831C	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2516	-			831						Missense_Mutation	SNP	ENST00000303230.4	37	c.2491G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662166	0.14645	.	.	ENSG00000164588	ENST00000303230	D	0.97328	-4.34	4.88	-0.174	0.13319	.	0.253573	0.31847	N	0.006974	D	0.89047	0.6604	N	0.08118	0	0.21527	N	0.999653	P	0.35527	0.507	B	0.33196	0.159	D	0.84130	0.0411	10	0.51188	T	0.08	.	6.2626	0.20910	0.0:0.3759:0.1298:0.4943	.	831	O60741	HCN1_HUMAN	C	831	ENSP00000307342:G831C	ENSP00000307342:G831C	G	-	1	0	HCN1	45297962	0.001000	0.12720	0.019000	0.16419	0.329000	0.28539	0.358000	0.20216	-0.045000	0.13468	0.655000	0.94253	GGC		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262205	C	A	45262205	3	1	11	1	0	0	0	0	1	0	0	0	6996	623	22	5	185	5	HCN1	5	45262205	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	27986796	45262205	135653055	20	767											
VCAN	1462	broad.mit.edu	37	chr5	82808046	82808046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcatggaggaacggcttTgaccagtgcgattacgggtg	8	8	17	8	4	0	1	0	1	0	0	0	4	0	3	1	5	3	2	1	5	2	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:82808046T>A	ENST00000265077.3	+	6	1438	c.873T>A	c.(871-873)ttT>ttA	p.F291L	VCAN_ENST00000343200.5_Missense_Mutation_p.F291L|VCAN_ENST00000512590.2_Missense_Mutation_p.F243L|VCAN_ENST00000513984.1_Missense_Mutation_p.F291L|VCAN_ENST00000502527.2_Missense_Mutation_p.F291L|VCAN_ENST00000342785.4_Missense_Mutation_p.F291L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	291	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAACGGCTTTGACCAGTGCG	0.602																																						uc003kii.3																			0		p.G290S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(871-873)ttT>ttA		Homo sapiens versican (VCAN), transcript variant 1, mRNA.							82	71	74					5																	82808046		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808046T>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.873T>A	5.37:g.82808046T>A	ENSP00000265077:p.Phe291Leu					VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.4_Missense_Mutation_p.F291L	p.F291L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	5	1229	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	291			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.873T>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.137821	0.37728	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.49	-5.02	0.02982	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.671931	0.13565	N	0.378508	T	0.03305	0.0096	N	0.05177	-0.1	0.27370	N	0.955708	P;B;B;B;B	0.35575	0.51;0.103;0.021;0.162;0.001	B;B;B;B;B	0.42738	0.396;0.026;0.016;0.253;0.005	T	0.39035	-0.9633	10	0.13470	T	0.59	.	2.9104	0.05734	0.11:0.3385:0.1137:0.4378	.	291;291;291;291;291	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	L	291;291;291;243;291;291;291	ENSP00000265077:F291L;ENSP00000340062:F291L;ENSP00000342768:F291L;ENSP00000425959:F243L;ENSP00000426251:F291L;ENSP00000426715:F291L;ENSP00000421362:F291L	ENSP00000265077:F291L	F	+	3	2	VCAN	82843802	0.003000	0.15002	0.098000	0.21074	0.006000	0.05464	-1.503000	0.02277	-0.863000	0.04084	-0.376000	0.06991	TTT		0.602	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82808046	T	A	82808046	3	1	11	1	0	0	0	0	1	0	0	0	17135	1809	63	5	891	5	VCAN	5	82808046	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	37545841	82808046	98107214	21	768											
FNIP1	96459	broad.mit.edu	37	chr5	131042146	131042146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacttgttgtttggctgCgtcgccaacgtcgctggtag	6	12	12	11	4	0	0	0	0	0	0	2	0	0	0	2	2	3	5	2	2	3	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:131042146C>T	ENST00000510461.1	-	9	967	c.872G>A	c.(871-873)cGc>cAc	p.R291H	FNIP1_ENST00000307954.8_Missense_Mutation_p.R246H|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.R263H|FNIP1_ENST00000511848.1_Missense_Mutation_p.R291H	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	291					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGTTTGGCTGCGTCGCCAACG	0.438																																						uc003kvs.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(871-873)cGc>cAc		Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.							98	92	94					5																	131042146		2203	4300	6503	SO:0001583	missense	96459				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:131042146C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.872G>A	5.37:g.131042146C>T	ENSP00000421985:p.Arg291His					RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.R263H|RAPGEF6_uc010jdm.1_Missense_Mutation_p.R246H|RAPGEF6_uc003kvu.3_Missense_Mutation_p.R291H	p.R291H	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	8	1014	-			0					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.872G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656029	0.96724	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.40756	2.03;1.82;1.75;1.02	5.6	5.6	0.85130	.	.	.	.	.	T	0.69967	0.3170	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.998;0.999	T	0.73232	-0.4048	9	0.87932	D	0	-5.6888	19.9737	0.97296	0.0:1.0:0.0:0.0	.	291;291;263;291	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	H	263;246;51;291;291	ENSP00000309266:R263H;ENSP00000310453:R246H;ENSP00000421985:R291H;ENSP00000425619:R291H	ENSP00000310453:R246H	R	-	2	0	FNIP1	131070045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.793000	0.96121	0.591000	0.81541	CGC		0.438	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		T	131042146	C	T	131042146	3	4	11	1	0	0	0	0	1	0	0	0	5975	768	27	1	2668	1	FNIP1	5	131042146	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	48234100	131042146	49873114	22	769											
PCDHA12	56137	broad.mit.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	9	6	12	14	6	0	1	0	1	0	0	1	3	0	1	2	0	5	3	2	0	3	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0		p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1360-1362)gcG>gcA		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.							107	108	108					5																	140256419		2203	4300	6503	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140256419G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A454A	p.A454A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1489	+			468			Cadherin 4.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1362G>A	CCDS47285.1																																																																																				0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140256419	G	A	140256419	2	1	11	1	0	0	0	0	0	0	0	1	11522	1132	40	1		1	PCDHA12	5	140256419	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	9214273	140256419	40658841	23	770											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttggccgttttcaggtccGcaatttcctgtaagagctta	7	15	9	10	2	2	1	1	0	1	1	4	1	4	1	3	2	1	4	3	2	3	6	rs375720289		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:147040668G>A	ENST00000265272.5	-	3	937	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	157						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542																																						uc010jgo.1																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(469-471)gCg>gTg		Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.		G	VAL/ALA	0,4406		0,0,2203	159	155	157		470	4.9	0.9	5		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAKMIP2	NM_014790.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/811	147040668	1,13005	2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040668G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.470C>T	5.37:g.147040668G>A	ENSP00000265272:p.Ala157Val					JAKMIP2_uc003loq.1_Missense_Mutation_p.A157V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A115V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A157V|LOC153469_uc003lop.1_3'UTR	p.A157V	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	618	-			157					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.470C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669603	0.29693	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.07908	3.15;3.15;3.15	4.95	4.95	0.65309	.	0.471751	0.24786	N	0.035612	T	0.06872	0.0175	N	0.22421	0.69	0.40941	D	0.984467	B;B;B;B	0.30824	0.296;0.104;0.104;0.104	B;B;B;B	0.21708	0.036;0.036;0.036;0.016	T	0.43972	-0.9358	10	0.19147	T	0.46	.	19.0736	0.93150	0.0:0.0:1.0:0.0	.	115;157;157;157	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	157;157;115;157	ENSP00000421398:A157V;ENSP00000265272:A157V;ENSP00000328989:A115V	ENSP00000265272:A157V	A	-	2	0	JAKMIP2	147020861	0.999000	0.42202	0.886000	0.34754	0.096000	0.18686	6.722000	0.74735	2.675000	0.91044	0.655000	0.94253	GCG		0.542	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		A	147040668	G	A	147040668	3	1	11	1	0	0	0	0	1	0	0	0	7941	1087	38	1	2038	1	JAKMIP2	5	147040668	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	6784249	147040668	33874592	24	771											
COL23A1	91522	broad.mit.edu	37	chr5	177690250	177690250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggccatctttcccagtgtCgccaggagggccccgggccc	4	6	15	16	2	1	0	0	0	1	0	3	1	2	1	6	5	0	0	6	5	0	1	rs371953467		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:177690250C>T	ENST00000390654.3	-	9	955	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL23A1_ENST00000407622.1_Missense_Mutation_p.D164N	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	200	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCAGTGTCGCCAGGAGGG	0.637																																						uc021yiz.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(598-600)Gac>Aac		Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.		C	ASN/ASP	0,3766		0,0,1883	32	34	34		598	3.6	1	5		34	1,8189		0,1,4094	no	missense	COL23A1	NM_173465.3	23	0,1,5977	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	200/541	177690250	1,11955	1883	4095	5978	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177690250C>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.598G>A	5.37:g.177690250C>T	ENSP00000375069:p.Asp200Asn					COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A47A	p.D200N	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	8	956	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	200			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.598G>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170642	0.38315	0.0	1.22E-4	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.94232	-3.38;-3.23	4.48	3.61	0.41365	.	0.074845	0.52532	D	0.000076	D	0.86928	0.6051	L	0.27053	0.805	0.33747	D	0.620208	P	0.34837	0.472	B	0.37780	0.258	D	0.84778	0.0771	10	0.19147	T	0.46	-11.702	8.4698	0.32977	0.0:0.8901:0.0:0.1099	.	200	Q86Y22	CONA1_HUMAN	N	200;164	ENSP00000375069:D200N;ENSP00000385092:D164N	ENSP00000375069:D200N	D	-	1	0	COL23A1	177622856	0.874000	0.30092	1.000000	0.80357	0.757000	0.42996	1.645000	0.37238	0.889000	0.36185	0.313000	0.20887	GAC		0.637	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		T	177690250	C	T	177690250	3	4	11	1	0	0	0	0	1	0	0	0	3682	884	31	2	1108	2	COL23A1	5	177690250	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	30649582	177690250	3225010	25	772											
RNF8	9025	broad.mit.edu	37	chr6	37336605	37336605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaggggaaaggtgaagtgGccagtacaccctctgacaat	13	6	12	10	0	1	2	0	2	1	0	1	3	1	3	2	4	1	1	2	4	4	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:37336605G>A	ENST00000373479.4	+	3	779	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNF8_ENST00000469731.1_Missense_Mutation_p.A196T|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	196					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGGTGAAGTGGCCAGTACACC	0.483																																						uc003onq.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(586-588)Gcc>Acc		Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.							81	81	81					6																	37336605		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336605G>A	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.586G>A	6.37:g.37336605G>A	ENSP00000362578:p.Ala196Thr					RNF8_uc003onr.4_Missense_Mutation_p.A196T|RNF8_uc011dtx.2_Missense_Mutation_p.A128T	p.A196T	NM_003958	NP_003949	O76064	RNF8_HUMAN			2	779	+			196					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.586G>A	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	6.832	0.522646	0.13066	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.83591	-1.74;0.71;0.8	5.93	-6.62	0.01813	.	1.151050	0.06462	N	0.729567	T	0.46698	0.1406	M	0.62723	1.935	0.21220	N	0.999755	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.44097	-0.9350	10	0.07325	T	0.83	2.5868	0.2061	0.00150	0.2807:0.1748:0.1882:0.3563	.	139;196	C9J858;O76064	.;RNF8_HUMAN	T	196;139;196	ENSP00000362578:A196T;ENSP00000417736:A139T;ENSP00000418879:A196T	ENSP00000362578:A196T	A	+	1	0	RNF8	37444583	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.394000	0.07296	-1.539000	0.01732	-0.848000	0.03037	GCC		0.483	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			A	37336605	G	A	37336605	3	1	11	1	0	0	0	0	1	0	0	0	13500	1203	42	3	596	3	RNF8	6	37336605	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		37336605	133778462	26	773											
PEX6	5190	broad.mit.edu	37	chr6	42937419	42937419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcaccctggctggaggcGaggcttcaggacagcacaga	10	5	13	13	1	2	1	2	0	0	1	2	4	2	3	1	5	1	3	1	5	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:42937419G>A	ENST00000304611.8	-	5	1423	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	PEX6_ENST00000244546.4_Missense_Mutation_p.R452C	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	452					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGCTGGAGGCGAGGCTTCAGG	0.567																																						uc003otf.3																			0		p.R452H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1354-1356)Cgc>Tgc		Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.							62	62	62					6																	42937419		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42937419G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1354C>T	6.37:g.42937419G>A	ENSP00000303511:p.Arg452Cys					PEX6_uc010jya.3_Non-coding_Transcript	p.R452C	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		4	1447	-			452					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1354C>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016630	0.54468	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.78246	-1.16;-1.16	5.35	5.35	0.76521	.	0.346474	0.36482	N	0.002577	T	0.49218	0.1544	N	0.14661	0.345	0.39504	D	0.968259	B	0.12630	0.006	B	0.08055	0.003	T	0.54549	-0.8277	10	0.59425	D	0.04	-14.1755	11.6995	0.51562	0.0828:0.0:0.9172:0.0	.	452	Q13608	PEX6_HUMAN	C	452	ENSP00000303511:R452C;ENSP00000244546:R452C	ENSP00000244546:R452C	R	-	1	0	PEX6	43045397	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.454000	0.60068	2.676000	0.91093	0.655000	0.94253	CGC		0.567	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42937419	G	A	42937419	3	1	11	1	0	0	0	0	1	0	0	0	11750	1058	37	2	1640	2	PEX6	6	42937419	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	5600814	42937419	128177648	27	774											
RFX6	222546	broad.mit.edu	37	chr6	117243268	117243268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgccactgtggaggCttttattgaatggttggata	11	13	13	4	0	0	2	0	1	0	1	0	5	0	4	1	4	1	2	1	4	5	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:117243268C>A	ENST00000332958.2	+	13	1407	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	464					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTGTGGAGGCTTTTATTGAA	0.338																																						uc003pxm.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1390-1392)gCt>gAt		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							103	107	106					6																	117243268		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117243268C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1391C>A	6.37:g.117243268C>A	ENSP00000332208:p.Ala464Asp						p.A464D	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			12	1454	+			464					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1391C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651365	0.67472	.	.	ENSG00000185002	ENST00000332958	T	0.55588	0.51	5.19	5.19	0.71726	.	0.055188	0.85682	D	0.000000	T	0.27629	0.0679	N	0.22421	0.69	0.50632	D	0.999889	P	0.37914	0.611	B	0.33750	0.169	T	0.14504	-1.0470	10	0.40728	T	0.16	-16.4602	18.729	0.91728	0.0:1.0:0.0:0.0	.	464	Q8HWS3	RFX6_HUMAN	D	464	ENSP00000332208:A464D	ENSP00000332208:A464D	A	+	2	0	RFX6	117349961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.434000	0.82447	0.585000	0.79938	GCT		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		A	117243268	C	A	117243268	3	1	11	1	0	0	0	0	1	0	0	0	13267	797	28	5	1441	5	RFX6	6	117243268	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	74305849	117243268	53871799	28	775											
PTPRK	5796	broad.mit.edu	37	chr6	128388894	128388894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctccggcttctctctTggttcggtgtgggtgcagtt	2	15	14	10	2	2	0	0	0	2	0	5	0	3	0	1	5	1	5	1	5	0	4	rs370400586		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:128388894T>C	ENST00000368215.3	-	12	1926	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	PTPRK_ENST00000368226.4_Missense_Mutation_p.K643E|PTPRK_ENST00000368227.3_Missense_Mutation_p.K643E|PTPRK_ENST00000368213.5_Missense_Mutation_p.K643E|PTPRK_ENST00000532331.1_Missense_Mutation_p.K643E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.K643E|PTPRK_ENST00000368210.3_Missense_Mutation_p.K643E|RP11-103C16.2_ENST00000417390.1_RNA			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	643	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.	Cleavage. {ECO:0000305}.			cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCTTCTCTCTTGGTTCGGTGT	0.448																																						uc003qbk.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1927-1929)Aag>Gag		Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.		T	GLU/LYS,GLU/LYS	0,4406		0,0,2203	72	78	76		1927,1927	5.9	1	6		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	643/1447,643/1441	128388894	1,13005	2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388894T>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1927A>G	6.37:g.128388894T>C	ENSP00000357198:p.Lys643Glu					PTPRK_uc010kfc.3_Missense_Mutation_p.K643E|PTPRK_uc003qbj.3_Missense_Mutation_p.K643E|PTPRK_uc011ebu.2_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	p.K643E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	11	2294	-			643			Fibronectin type-III 4.	Cleavage (Probable).	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1927A>G		.	.	.	.	.	.	.	.	.	.	T	15.68	2.906282	0.52333	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08720	3.08;3.07;3.07;3.09;3.07;3.09;3.06	5.93	5.93	0.95920	.	0.169045	0.52532	D	0.000067	T	0.04407	0.0121	L	0.32530	0.975	0.54753	D	0.999983	B;P;P;P;B;B	0.41008	0.256;0.616;0.735;0.486;0.083;0.135	B;B;B;B;B;B	0.38985	0.055;0.15;0.287;0.205;0.027;0.059	T	0.41538	-0.9503	10	0.44086	T	0.13	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	643;643;643;500;643;643	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	E	643;643;643;643;643;643;643;500	ENSP00000357209:K643E;ENSP00000357210:K643E;ENSP00000432973:K643E;ENSP00000357196:K643E;ENSP00000357193:K643E;ENSP00000357198:K643E;ENSP00000357190:K643E	ENSP00000357190:K643E	K	-	1	0	PTPRK	128430587	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.386000	0.52492	2.271000	0.75665	0.533000	0.62120	AAG		0.448	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			C	128388894	T	C	128388894	3	2	11	1	0	0	0	0	1	0	0	0	12805	1821	63	4	2493	4	PTPRK	6	128388894	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	11145626	128388894	42726173	29	776											
TYW1B	441250	broad.mit.edu	37	chr7	72093938	72093938	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcctggagctcgtccacGttccatgctttcacgagcat	7	11	10	13	3	1	0	1	0	0	0	4	2	3	1	3	2	3	4	3	2	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:72093938G>A	ENST00000435769.2	-	0	1674				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GCTCGTCCACGTTCCATGCTT	0.522																																						uc011kej.2																			0											c.(1546-1548)aaC>aaT		Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.							79	93	89					7																	72093938		692	1589	2281			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093938G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093938G>A						TYW1B_uc011keh.1_Silent_p.N354N|TYW1B_uc011kei.2_Silent_p.N143N	p.N516N	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			13	1707	-			517					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1548C>T																																																																																					0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		A	72093938	G	A	72093938	1	1	11	0	1	0	0	0	0	0	0	0	16816	1136	40	1		1	TYW1B	7	72093938	RNA	SNP	G	TCGA-06-0124-01A-01D-1490-08		72093938	87044725	30	777											
ABCB4	5244	broad.mit.edu	37	chr7	87104766	87104766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggctgttccgttctttgCcgcctcaagatccatctcag	6	12	8	15	2	3	1	2	0	2	1	6	1	5	1	5	1	1	3	5	1	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:87104766C>T	ENST00000265723.4	-	2	127	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ABCB4_ENST00000545634.1_Missense_Mutation_p.A6T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A6T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A6T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A6T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	6					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCGTTCTTTGCCGCCTCAAGA	0.647																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(16-18)Gca>Aca		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							65	60	62					7																	87104766		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104766C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.16G>A	7.37:g.87104766C>T	ENSP00000265723:p.Ala6Thr					ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.3_Missense_Mutation_p.A6T	p.A6T	NM_018849	NP_061337	P21439	MDR3_HUMAN			1	92	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		6					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.16G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615048	0.46631	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.87103	-2.15;-2.21;-2.19;-2.21;-2.15	3.85	2.97	0.34412	.	.	.	.	.	T	0.70176	0.3194	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23937	0.094;0.041;0.034;0.02	B;B;B;B	0.18561	0.01;0.007;0.022;0.01	T	0.55724	-0.8096	9	0.14252	T	0.57	0.1162	7.0258	0.24940	0.0:0.8748:0.0:0.1252	.	6;6;6;6	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	T	6	ENSP00000352135:A6T;ENSP00000351172:A6T;ENSP00000265723:A6T;ENSP00000392983:A6T;ENSP00000437465:A6T	ENSP00000265723:A6T	A	-	1	0	ABCB4	86942702	0.014000	0.17966	0.003000	0.11579	0.836000	0.47400	0.960000	0.29253	0.834000	0.34852	0.637000	0.83480	GCA		0.647	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87104766	C	T	87104766	3	4	11	1	0	0	0	0	1	0	0	0	43	739	26	3	3952	3	ABCB4	7	87104766	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	15010828	87104766	72033897	31	778											
ZAN	7455	broad.mit.edu	37	chr7	100373053	100373053	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgtcctggtgaaagtgtgCcaccccgccatggccttgcc	5	10	11	15	1	0	1	0	1	0	0	1	1	1	1	7	2	2	0	7	2	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100373053C>T	ENST00000348028.3	+	0	6047				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAAAGTGTGCCACCCCGCCA	0.547																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(5878-5880)tgC>tgT		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							63	62	62					7																	100373053		2028	4166	6194			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373053C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373053C>T						ZAN_uc003uwk.3_Silent_p.C1960C|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.C48C	p.C1960C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		32	6045	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1961			VWFD 3.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.5880C>T																																																																																					0.547	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100373053	C	T	100373053	1	4	11	0	1	0	0	0	0	0	0	0	17510	747	26	3		3	ZAN	7	100373053	RNA	SNP	C	TCGA-06-0124-01A-01D-1490-08	13268287	100373053	58765610	32	779											
MUC17	140453	broad.mit.edu	37	chr7	100681607	100681607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccctttcaacaactcctGttgactccaacactcctttc	9	12	3	17	0	1	1	1	1	0	0	5	1	4	1	4	0	3	2	4	0	3	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100681607G>C	ENST00000306151.4	+	3	6974	c.6910G>C	c.(6910-6912)Gtt>Ctt	p.V2304L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2304	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACTCCAA	0.473																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6910-6912)Gtt>Ctt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							225	226	226					7																	100681607		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681607G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6910G>C	7.37:g.100681607G>C	ENSP00000302716:p.Val2304Leu					MUC17_uc010lho.1_Non-coding_Transcript	p.V2304L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	6963	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2304			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6910G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437238	0.12104	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	0.438	0.438	0.16560	.	.	.	.	.	T	0.01730	0.0055	N	0.24115	0.695	0.20638	N	0.999877	P	0.50156	0.932	B	0.38954	0.286	T	0.41324	-0.9515	9	0.09338	T	0.73	.	6.7366	0.23413	2.0E-4:0.0:0.9998:0.0	.	2304	Q685J3	MUC17_HUMAN	L	2304	ENSP00000302716:V2304L	ENSP00000302716:V2304L	V	+	1	0	MUC17	100468327	0.001000	0.12720	0.046000	0.18839	0.047000	0.14425	-0.479000	0.06567	0.494000	0.27859	0.134000	0.15878	GTT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681607	G	C	100681607	3	2	11	1	0	0	0	0	1	0	0	0	9974	1377	48	5	6920	5	MUC17	7	100681607	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	308554	100681607	58457056	33	780											
RELN	5649	broad.mit.edu	37	chr7	103130205	103130205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccttggaagctctcgtcGcagatgcagatggcaccggt	9	8	13	11	3	1	3	0	0	1	3	3	4	1	4	2	3	2	4	2	3	1	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:103130205G>A	ENST00000428762.1	-	60	9906	c.9747C>T	c.(9745-9747)tgC>tgT	p.C3249C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.C3249C|RELN_ENST00000343529.5_Silent_p.C3249C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3249	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTCTCGTCGCAGATGCAGA	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9745-9747)tgC>tgT		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							70	55	60					7																	103130205		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103130205G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9747C>T	7.37:g.103130205G>A						RELN_uc022ajq.1_Silent_p.C3249C|RELN_uc010liz.3_Silent_p.C3249C	p.C3249C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	59	9907	-			3249			EGF-like 8.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.9747C>T	CCDS47680.1																																																																																				0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103130205	G	A	103130205	2	1	11	1	0	0	0	0	0	0	0	1	13220	1079	38	1		1	RELN	7	103130205	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	2448598	103130205	56008458	34	781											
ADAM7	8756	broad.mit.edu	37	chr8	24365011	24365012	+	Missense_Mutation	DNP	TC	TC	AA																															agaaacctgcaagtaaagatTcaagaggaatcgcagatccc																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:24365011_24365012TC>AA	ENST00000175238.6	+	21	2310_2311	c.2227_2228TC>AA	c.(2227-2229)TCa>AAa	p.S743K	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S765K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	743						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGTAAAGATTCAAGAGGAATC	0.396																																						uc003xeb.3																			0		p.D742Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(2227-2229)tca>AAa		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.																																				SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24365011_24365012TC>AA	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	Exception_encountered	8.37:g.24365011_24365012delinsAA	ENSP00000175238:p.Ser743Lys					ADAM7_uc003xec.3_Intron	p.S743K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	20	2340_2341	+		Prostate(55;0.0181)	743					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	DNP	ENST00000175238.6	37	c.2227_2228TC>AA	CCDS6045.1																																																																																				0.396	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		AA	24365012	TC	AA	24365011	3	1	11	1	0	0	0	0	1	0	0	0	251	1783	62	5	2309	5	ADAM7	8	24365011	Missense_Mutation	DNP	TC	TCGA-06-0124-01A-01D-1490-08		24365011	121999011	35	782											
DOCK5	80005	broad.mit.edu	37	chr8	25158172	25158172	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacctccaagcagtgtttaCagtaagtcctcccttctgtt	9	14	6	12	0	1	0	0	0	1	0	4	0	4	0	4	0	3	4	4	0	4	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25158172C>G	ENST00000276440.7	+	9	889	c.845C>G	c.(844-846)aCa>aGa	p.T282R	DOCK5_ENST00000481100.1_Splice_Site_p.T282R	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	282					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGTGTTTACAGTAAGTCCT	0.363																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e9+1		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							163	145	151					8																	25158172		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25158172C>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.846+1C>G	8.37:g.25158172C>G						DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.3_Splice_Site_p.T282_splice	p.T282_splice	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	9	983	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	282					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.846_splice	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554975	0.65425	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.17691	2.26;2.26	5.51	4.61	0.57282	.	0.054326	0.64402	D	0.000001	T	0.45796	0.1360	M	0.87180	2.865	0.80722	D	1	P	0.51057	0.941	P	0.61070	0.883	T	0.57165	-0.7858	10	0.87932	D	0	.	16.5133	0.84292	0.0:0.8689:0.131:0.0	.	282	Q9H7D0	DOCK5_HUMAN	R	282	ENSP00000429737:T282R;ENSP00000276440:T282R	ENSP00000276440:T282R	T	+	2	0	DOCK5	25214089	1.000000	0.71417	0.998000	0.56505	0.249000	0.25844	5.988000	0.70579	1.415000	0.47037	0.555000	0.69702	ACA		0.363	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation	G	25158172	C	G	25158172	5	3	11	1	0	0	0	0	0	0	1	0	4690	492	17	5	879	5	DOCK5	8	25158172	Splice_Site	SNP	C	TCGA-06-0124-01A-01D-1490-08	793161	25158172	121205850	36	783											
EBF2	64641	broad.mit.edu	37	chr8	25715990	25715990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagagtatccccgcGgagagatgctgcttgtgttg	8	10	15	8	2	0	2	0	0	0	2	1	5	1	4	2	2	3	5	2	2	2	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25715990G>A	ENST00000520164.1	-	14	1910	c.1373C>T	c.(1372-1374)cCg>cTg	p.P458L	EBF2_ENST00000535548.1_Missense_Mutation_p.P189L|EBF2_ENST00000408929.3_Missense_Mutation_p.P310L	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	458	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P458L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTATCCCCGCGGAGAGATGCT	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.2																			2	Substitution - Missense(2)	p.P458L(3)	endometrium(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1372-1374)cCg>cTg		Homo sapiens early B-cell factor 2 (EBF2), mRNA.							142	142	142					8																	25715990		2043	4197	6240	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715990G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1373C>T	8.37:g.25715990G>A	ENSP00000430241:p.Pro458Leu					DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	p.P458L	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	13	1638	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	458			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1373C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009797	0.93346	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.49432	0.78;0.78;0.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	P	0.48873	0.593	T	0.70890	-0.4749	10	0.87932	D	0	.	18.0598	0.89373	0.0:0.0:1.0:0.0	.	458	Q9HAK2	COE2_HUMAN	L	458;310;189	ENSP00000430241:P458L;ENSP00000386178:P310L;ENSP00000437909:P189L	ENSP00000386178:P310L	P	-	2	0	EBF2	25771907	1.000000	0.71417	0.950000	0.38849	0.969000	0.65631	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	CCG		0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25715990	G	A	25715990	3	1	11	1	0	0	0	0	1	0	0	0	4881	1116	39	2	366	2	EBF2	8	25715990	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	557818	25715990	120648032	37	784											
TRPA1	8989	broad.mit.edu	37	chr8	72948651	72948651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcccgtcgtgtagataatCcattcaagaacattgcttat	12	13	7	9	2	1	2	1	0	0	2	3	2	2	2	2	0	3	2	2	0	5	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:72948651C>A	ENST00000262209.4	-	21	2634	c.2427G>T	c.(2425-2427)tgG>tgT	p.W809C	RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	809					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTAGATAATCCATTCAAGAA	0.363																																						uc003xza.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2425-2427)tgG>tgT		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						56	57	56					8																	72948651		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948651C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2427G>T	8.37:g.72948651C>A	ENSP00000262209:p.Trp809Cys					LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.W809C	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		20	2602	-			809					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2427G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140747	0.37825	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.37584	1.19;1.19	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67043	-0.5770	10	0.54805	T	0.06	-8.9182	17.93	0.88993	0.0:1.0:0.0:0.0	.	809	O75762	TRPA1_HUMAN	C	661;809	ENSP00000428151:W661C;ENSP00000262209:W809C	ENSP00000262209:W809C	W	-	3	0	TRPA1	73111205	1.000000	0.71417	0.958000	0.39756	0.110000	0.19582	5.429000	0.66495	2.218000	0.71995	0.460000	0.39030	TGG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		A	72948651	C	A	72948651	3	1	11	1	0	0	0	0	1	0	0	0	16574	856	30	5	960	5	TRPA1	8	72948651	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	47232661	72948651	73415371	38	785											
RIMS2	9699	broad.mit.edu	37	chr8	104930679	104930679	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcagagatataccgCgaatacctgatagcacacat	15	10	6	10	2	2	2	2	1	0	1	2	4	2	2	2	0	3	1	2	0	5	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:104930679C>T	ENST00000436393.2	+	7	1622	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R683*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R491*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R538*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	761					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATATACCGCGAATACCTGA	0.299										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1381-1383)Cga>Tga		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							96	94	95					8																	104930679		1808	4085	5893	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104930679C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1381C>T	8.37:g.104930679C>T	ENSP00000390665:p.Arg461*	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.3_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	p.R461*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		6	1622	+			761					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.1381C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.504430	0.97620	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.41	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1769	0.54190	0.5881:0.4119:0.0:0.0	.	.	.	.	X	683;714;683;761;74;491;538;491;491;461	.	ENSP00000262231:R538X	R	+	1	2	RIMS2	104999855	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.178000	0.50879	0.889000	0.36185	-0.264000	0.10439	CGA		0.299	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	104930679	C	T	104930679	4	4	11	1	0	0	0	0	0	1	0	0	13368	760	27	1	2207	1	RIMS2	8	104930679	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	31982028	104930679	41433343	39	786											
RIMS2	9699	broad.mit.edu	37	chr8	105264036	105264036	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcaactggaccttcttaCtctcgttcatagcagctgta	9	14	7	11	1	4	0	2	0	2	0	5	1	4	1	1	1	4	5	1	1	4	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:105264036C>A	ENST00000436393.2	+	28	4333	c.4092C>A	c.(4090-4092)taC>taA	p.Y1364*	RIMS2_ENST00000339750.2_Nonsense_Mutation_p.Y282*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Y1346*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.Y1160*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Y1185*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1408					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCTTCTTACTCTCGTTCAT	0.423										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(4090-4092)taC>taA		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							94	92	92					8																	105264036		1846	4079	5925	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105264036C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4092C>A	8.37:g.105264036C>A	ENSP00000390665:p.Tyr1364*	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Nonsense_Mutation_p.Y1346*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.Y1160*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.Y1185*	p.Y1364*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		27	4333	+			1408					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.4092C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.411424	0.97546	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	.	.	.	5.64	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1032	0.30870	0.0:0.4965:0.0:0.5035	.	.	.	.	X	1383;1346;1408;1185;1160;1364;282	.	ENSP00000262231:Y1185X	Y	+	3	2	RIMS2	105333212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.672000	0.37523	0.332000	0.23536	0.655000	0.94253	TAC		0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105264036	C	A	105264036	4	1	11	1	0	0	0	0	0	1	0	0	13368	576	20	5	4328	5	RIMS2	8	105264036	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	333357	105264036	41099986	40	787											
SMARCA2	6595	broad.mit.edu	37	chr9	2039586	2039586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgggggccctcatcccagGtgatccgcaggccatgagcc	6	5	14	16	2	1	2	1	2	0	0	3	2	3	2	6	4	1	1	6	4	0	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:2039586G>A	ENST00000382203.1	+	4	685	c.476G>A	c.(475-477)gGt>gAt	p.G159D	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G159D|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G159D|SMARCA2_ENST00000349721.2_Missense_Mutation_p.G159D|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	159					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTCATCCCAGGTGATCCGCAG	0.582																																						uc003zhc.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(475-477)gGt>gAt		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.							67	69	68					9																	2039586		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039586G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.476G>A	9.37:g.2039586G>A	ENSP00000371638:p.Gly159Asp					SMARCA2_uc003zhd.3_Missense_Mutation_p.G159D|SMARCA2_uc010mha.3_Missense_Mutation_p.G150D	p.G159D	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	3	575	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	159					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.476G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555767	0.65425	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.88741	-2.42;-2.39;0.71;-2.42;-2.39	5.6	5.6	0.85130	.	0.429782	0.23508	N	0.047422	D	0.92241	0.7539	L	0.39898	1.24	0.54753	D	0.999985	D;D	0.76494	0.981;0.999	D;D	0.80764	0.961;0.994	D	0.91262	0.5037	10	0.40728	T	0.16	-19.1826	19.6091	0.95594	0.0:0.0:1.0:0.0	.	159;159	P51531-2;P51531	.;SMCA2_HUMAN	D	159	ENSP00000265773:G159D;ENSP00000349788:G159D;ENSP00000392081:G159D;ENSP00000371638:G159D;ENSP00000371629:G159D	ENSP00000265773:G159D	G	+	2	0	SMARCA2	2029586	1.000000	0.71417	0.171000	0.22900	0.780000	0.44128	3.891000	0.56227	2.650000	0.89964	0.655000	0.94253	GGT		0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039586	G	A	2039586	3	1	11	1	0	0	0	0	1	0	0	0	14769	1261	44	3	486	3	SMARCA2	9	2039586	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		2039586	139173845	41	788											
VCP	7415	broad.mit.edu	37	chr9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T																															tagcgccaatgatgaacacaINStttttttttgtggacatgcc																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:35059646_35059647insT	ENST00000358901.6	-	14	2742_2743	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.N616fs*63(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515																																						uc003zvy.2																			1	Deletion - Frameshift(1)	p.N616fs*63(2)	large_intestine(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1846-1848)aatfs		Homo sapiens valosin containing protein (VCP), mRNA.																																				SO:0001589	frameshift_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35059646_35059647insT	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1848dupA	9.37:g.35059655_35059655dupT	ENSP00000351777:p.Asn616fs					VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs	p.N616fs	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		13	2236_2237	-			616					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Frame_Shift_Ins	INS	ENST00000358901.6	37	c.1847_1848insA	CCDS6573.1																																																																																				0.515	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		T	35059647	-	T	35059646	7	5	11	1	0	1	1	0	0	0	0	0	17137	214	8	0	588	0	VCP	9	35059646	Frame_Shift_Ins	INS	-	TCGA-06-0124-01A-01D-1490-08	33020060	35059646	106153785	42	789											
DAB2IP	153090	broad.mit.edu	37	chr9	124535257	124535257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacctccgagggcgcgcCaggccggccccagctgttgg	5	4	16	16	4	0	0	0	0	0	0	1	1	1	0	6	5	1	3	6	5	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:124535257C>T	ENST00000408936.3	+	12	2632	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P693L|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P789L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	817	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGGCGCGCCAGGCCGGCCC	0.726																																						uc004bln.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2365-2367)cCa>cTa		Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.							26	26	26					9																	124535257		2099	4092	6191	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535257C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2450C>T	9.37:g.124535257C>T	ENSP00000386183:p.Pro817Leu					DAB2IP_uc004blo.3_Missense_Mutation_p.P693L|DAB2IP_uc004blp.3_Missense_Mutation_p.P222L	p.P789L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			11	2435	+			817					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2366C>T		.	.	.	.	.	.	.	.	.	.	C	14.13	2.442881	0.43326	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.69	4.69	0.59074	.	0.165631	0.52532	D	0.000070	T	0.20981	0.0505	L	0.38531	1.155	0.80722	D	1	D;P	0.89917	1.0;0.93	D;P	0.91635	0.999;0.644	T	0.03566	-1.1024	10	0.07990	T	0.79	.	16.9563	0.86260	0.0:1.0:0.0:0.0	.	817;789	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	L	789;817;726;693	ENSP00000259371:P789L;ENSP00000386183:P817L;ENSP00000362887:P726L;ENSP00000310827:P693L	ENSP00000259371:P789L	P	+	2	0	DAB2IP	123575078	1.000000	0.71417	0.203000	0.23512	0.859000	0.49053	4.415000	0.59809	2.317000	0.78254	0.462000	0.41574	CCA		0.726	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		T	124535257	C	T	124535257	3	4	11	1	0	0	0	0	1	0	0	0	4219	594	21	3	2412	3	DAB2IP	9	124535257	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	89475611	124535257	16678174	43	790											
RBM18	92400	broad.mit.edu	37	chr9	125004210	125004210	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatatggagtagtcctttTtttatctggtggcttaaagt	10	17	10	4	0	1	1	0	0	1	1	2	2	2	2	1	3	0	2	1	3	6	7			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004210T>A	ENST00000417201.3	-	6	666	c.526A>T	c.(526-528)Aaa>Taa	p.K176*	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	176							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GTAGTCCTTTTTTTATCTGGT	0.398																																						uc004bma.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(526-528)Aaa>Taa		Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.							148	140	143					9																	125004210		2203	4300	6503	SO:0001587	stop_gained	92400						nucleotide binding|RNA binding	g.chr9:125004210T>A	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"RNA binding motif (RRM) containing"	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.526A>T	9.37:g.125004210T>A	ENSP00000409315:p.Lys176*					RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	p.K176*	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			5	692	-			176					B3KQ89	Nonsense_Mutation	SNP	ENST00000417201.3	37	c.526A>T	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	T	33	5.235831	0.95240	.	.	ENSG00000119446	ENST00000417201	.	.	.	5.53	5.53	0.82687	.	0.041428	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.022	14.8349	0.70175	0.0:0.0:0.0:1.0	.	.	.	.	X	176	.	ENSP00000409315:K176X	K	-	1	0	RBM18	124044031	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.911000	0.75746	2.102000	0.63906	0.402000	0.26972	AAA		0.398	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117		A	125004210	T	A	125004210	4	1	11	1	0	0	0	0	0	1	0	0	13120	1850	64	5	50	5	RBM18	9	125004210	Nonsense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	468953	125004210	16209221	44	791			1	4		2	2	18	N	T_A	4.118566e-05
RBM18	92400	broad.mit.edu	37	chr9	125004227	125004227	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttatctggtggcttaAagtaggaataaacaggcgct	11	15	10	5	1	1	0	0	0	1	0	1	1	1	1	0	4	1	3	0	4	7	7	rs111532590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004227A>C	ENST00000417201.3	-	6	649	c.509T>G	c.(508-510)tTt>tGt	p.F170C	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	170							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGCTTAAAGTAGGAATA	0.403																																						uc004bma.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(508-510)tTt>tGt		Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.							139	132	134					9																	125004227		2203	4300	6503	SO:0001583	missense	92400						nucleotide binding|RNA binding	g.chr9:125004227A>C	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"RNA binding motif (RRM) containing"	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.509T>G	9.37:g.125004227A>C	ENSP00000409315:p.Phe170Cys					RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	p.F170C	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			5	675	-			170					B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	37	c.509T>G	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072194	0.36566	.	.	ENSG00000119446	ENST00000417201	T	0.11930	2.73	5.53	5.53	0.82687	.	0.090221	0.85682	D	0.000000	T	0.12646	0.0307	L	0.36672	1.1	0.47123	D	0.999326	D	0.54047	0.964	B	0.40602	0.334	T	0.03945	-1.0990	10	0.38643	T	0.18	-14.7918	14.8349	0.70175	1.0:0.0:0.0:0.0	.	170	Q96H35	RBM18_HUMAN	C	170	ENSP00000409315:F170C	ENSP00000409315:F170C	F	-	2	0	RBM18	124044048	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.839000	0.69395	2.102000	0.63906	0.402000	0.26972	TTT		0.403	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117		C	125004227	A	C	125004227	3	2	11	1	0	0	0	0	1	0	0	0	13120	14	1	5	67	5	RBM18	9	125004227	Missense_Mutation	SNP	A	TCGA-06-0124-01A-01D-1490-08	17	125004227	16209204	45	792			1	4		2	2	18	N	T_A	4.118566e-05
CCNY	219771	broad.mit.edu	37	chr10	35819172	35819172	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtgccatcgtcaccctgGtgagtgccctcaggatggcc	7	9	12	13	1	2	1	2	1	0	0	3	2	2	2	4	3	2	0	4	3	1	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:35819172G>A	ENST00000374704.4	+	7	759		c.e7+1		CCNY_ENST00000374706.1_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000492478.1_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGTCACCCTGGTGAGTGCCCT	0.577																																						uc001iyw.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.e7+1		Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.							80	55	63					10																	35819172		2203	4300	6503	SO:0001630	splice_region_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35819172G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.579+1G>A	10.37:g.35819172G>A						CCNY_uc001iyu.4_Splice_Site_p.L139_splice|CCNY_uc001iyv.4_Splice_Site_p.L139_splice|CCNY_uc001iyx.4_Splice_Site_p.L139_splice|CCNY_uc009xmb.3_Splice_Site_p.L168_splice|CCNY_uc010qet.2_Splice_Site_p.L60_splice	p.L193_splice	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN			7	759	+			193			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	37	c.579_splice	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674910	0.88445	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNY	35859178	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.864000	0.99589	2.794000	0.96219	0.655000	0.94253	.		0.577	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	Intron	A	35819172	G	A	35819172	5	1	11	1	0	0	0	0	0	0	1	0	2936	1275	44	3	606	3	CCNY	10	35819172	Splice_Site	SNP	G	TCGA-06-0124-01A-01D-1490-08		35819172	99715575	46	793											
PTEN	5728	broad.mit.edu	37	chr10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcacttttgggtaaataCattcttcataccaggaccag	11	14	7	9	0	3	0	2	0	1	0	3	1	3	1	2	2	2	2	2	2	4	8	rs398123329		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:89720679C>T	ENST00000371953.3	+	8	2187	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	277	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.T277I(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(829-831)aCa>aTa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							31	32	32					10																	89720679		2196	4284	6480	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720679C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.830C>T	10.37:g.89720679C>T	ENSP00000361021:p.Thr277Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T277I	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1862	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	277			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.830C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666335	0.88251	.	.	ENSG00000171862	ENST00000371953	D	0.98419	-4.92	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.86953	2.85	0.80722	D	1	P	0.43788	0.817	B	0.40534	0.332	D	0.98816	1.0745	9	.	.	.	-0.9023	18.5632	0.91108	0.0:1.0:0.0:0.0	.	277	P60484	PTEN_HUMAN	I	277	ENSP00000361021:T277I	.	T	+	2	0	PTEN	89710659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.399000	0.81585	0.591000	0.81541	ACA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720679	C	T	89720679	3	4	11	1	0	0	0	0	1	0	0	0	12738	478	17	3	860	3	PTEN	10	89720679	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	53901507	89720679	45814068	47	794											
HPS6	79803	broad.mit.edu	37	chr10	103827534	103827534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggaccccagcactccacCcccgactccacctcgggacc	8	4	8	21	2	0	0	0	0	0	0	3	3	2	2	8	2	1	1	8	2	0	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:103827534C>T	ENST00000299238.5	+	1	2388	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	768					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AGCACTCCACCCCCGACTCCA	0.592									Hermansky-Pudlak syndrome																													uc001kuj.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(2302-2304)cCc>cTc		Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.							37	40	39					10																	103827534		2178	4227	6405	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103827534C>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2303C>T	10.37:g.103827534C>T	ENSP00000299238:p.Pro768Leu						p.P768L	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	0	2411	+		Colorectal(252;0.122)	768					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.2303C>T	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658650	0.47467	.	.	ENSG00000166189	ENST00000299238	D	0.83755	-1.76	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90892	0.4762	10	0.87932	D	0	-13.3476	16.1929	0.82005	0.0:1.0:0.0:0.0	.	768	Q86YV9	HPS6_HUMAN	L	768	ENSP00000299238:P768L	ENSP00000299238:P768L	P	+	2	0	HPS6	103817524	1.000000	0.71417	0.993000	0.49108	0.180000	0.23129	6.417000	0.73337	2.584000	0.87258	0.650000	0.86243	CCC		0.592	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		T	103827534	C	T	103827534	3	4	11	1	0	0	0	0	1	0	0	0	7343	623	22	3	2305	3	HPS6	10	103827534	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	14106855	103827534	31707213	48	795											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643000	1643000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggagccacagcccccCttggagcccccacaggagcc	9	2	10	20	0	0	0	0	0	0	0	0	3	0	3	8	3	4	0	8	3	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:1643000C>T	ENST00000399682.1	-	1	368	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAGCCCC	0.682																																						uc009ycy.1																			0		p.S73S(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(217-219)aaG>aaA		Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.							7	15	13					11																	1643000		634	1505	2139	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643000C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.324G>A	11.37:g.1643000C>T						MOB2_uc001ltq.2_Intron	p.K73K	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	306	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	168			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.219G>A																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		T	1643000	C	T	1643000	2	4	11	1	0	0	0	0	0	0	0	1	8563	680	24	3		3	KRTAP5-4	11	1643000	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08		1643000	133363516	49	796											
NAP1L4	4676	broad.mit.edu	37	chr11	2975821	2975821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggactatccgctcaCggaaaaagtgtccaatttca	11	8	9	13	4	2	0	2	0	0	0	4	2	4	2	3	2	0	1	3	2	4	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:2975821C>T	ENST00000380542.4	-	12	1111	c.971G>A	c.(970-972)cGt>cAt	p.R324H	NAP1L4_ENST00000526115.1_Missense_Mutation_p.R324H	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	324					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TATCCGCTCACGGAAAAAGTG	0.473																																						uc010qxm.2																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(970-972)cGt>cAt		Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.							60	61	61					11																	2975821		1876	4098	5974	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2975821C>T	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.971G>A	11.37:g.2975821C>T	ENSP00000369915:p.Arg324His					NAP1L4_uc001lxb.3_5'Flank|NAP1L4_uc001lxc.3_Missense_Mutation_p.R324H|NAP1L4_uc010qxn.2_Missense_Mutation_p.R324H	p.R324H	NM_005969	NP_005960	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	12	1255	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	324					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.971G>A	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898972	0.91962	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.27720	1.65;1.65	4.63	4.63	0.57726	.	0.054702	0.64402	D	0.000001	T	0.36386	0.0965	M	0.63169	1.94	0.80722	D	1	B;P	0.35328	0.33;0.495	B;B	0.37198	0.169;0.243	T	0.28902	-1.0029	10	0.45353	T	0.12	-12.1517	17.6942	0.88276	0.0:1.0:0.0:0.0	.	324;324	F5HFY4;Q99733	.;NP1L4_HUMAN	H	324	ENSP00000369915:R324H;ENSP00000436397:R324H	ENSP00000369915:R324H	R	-	2	0	NAP1L4	2932397	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.128000	0.77217	2.390000	0.81377	0.650000	0.86243	CGT		0.473	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		T	2975821	C	T	2975821	3	4	11	1	0	0	0	0	1	0	0	0	10159	536	19	1	172	1	NAP1L4	11	2975821	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	1332821	2975821	132030695	50	797											
OR52K1	390036	broad.mit.edu	37	chr11	4510426	4510426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaacttctttgcctGtctggtccagatgttcttcc	6	15	9	11	0	4	2	1	0	3	2	6	3	6	2	3	2	2	1	3	2	1	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:4510426G>C	ENST00000307632.3	+	1	318	c.296G>C	c.(295-297)tGt>tCt	p.C99S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTTTGCCTGTCTGGTCCAG	0.502																																						uc001lza.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(295-297)tGt>tCt		Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.							105	80	89					11																	4510426		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510426G>C	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.296G>C	11.37:g.4510426G>C	ENSP00000302422:p.Cys99Ser						p.C99S	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	318	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	99					B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.296G>C	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654682	0.67472	.	.	ENSG00000196778	ENST00000307632	T	0.00540	6.7	3.95	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000105	T	0.02494	0.0076	H	0.98466	4.24	0.41219	D	0.986493	P	0.45594	0.862	P	0.48627	0.584	T	0.03325	-1.1048	10	0.87932	D	0	.	11.6049	0.51026	0.0916:0.0:0.9084:0.0	.	99	Q8NGK4	O52K1_HUMAN	S	99	ENSP00000302422:C99S	ENSP00000302422:C99S	C	+	2	0	OR52K1	4467002	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.632000	0.83247	1.222000	0.43521	0.508000	0.49915	TGT		0.502	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		C	4510426	G	C	4510426	3	2	11	1	0	0	0	0	1	0	0	0	11123	1377	48	5	298	5	OR52K1	11	4510426	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	1534605	4510426	130496090	51	798											
HTR3A	3359	broad.mit.edu	37	chr11	113856764	113856764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaacatctctttgtggcGcttgccagaaaaggtgaaat	12	11	9	9	1	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	4	2	rs199553305		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:113856764G>A	ENST00000504030.2	+	6	1017	c.572G>A	c.(571-573)cGc>cAc	p.R191H	HTR3A_ENST00000375498.2_Missense_Mutation_p.R197H|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191H|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197H|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176H			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R191H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCTTTGTGGCGCTTGCCAGAA	0.522													G|||	1	0.000199681	0	0	5008	,	,		18827	0		0.001	False		,,,				2504	0					uc010rxb.2																			1	Substitution - Missense(1)	p.R191H(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(589-591)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						196	205	202					11																	113856764		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856764G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.572G>A	11.37:g.113856764G>A	ENSP00000424189:p.Arg191His					HTR3A_uc010rxa.2_Missense_Mutation_p.R197H|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.R176H	p.R197H	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	823	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	191					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.590G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.080083	0.94050	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.87087	0.6090	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.86661	0.1904	10	0.44086	T	0.13	-14.1102	18.5998	0.91244	0.0:0.0:1.0:0.0	.	176;197;197	B4DSY6;G5E986;Q7KZM7	.;.;.	H	191;197;197;191;176	ENSP00000424189:R191H;ENSP00000347754:R197H;ENSP00000364648:R197H;ENSP00000424776:R191H;ENSP00000299961:R176H	ENSP00000299961:R176H	R	+	2	0	HTR3A	113361974	1.000000	0.71417	0.947000	0.38551	0.819000	0.46315	9.688000	0.98670	2.457000	0.83068	0.655000	0.94253	CGC		0.522	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113856764	G	A	113856764	3	1	11	1	0	0	0	0	1	0	0	0	7444	1087	38	1	638	1	HTR3A	11	113856764	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	109346338	113856764	21149752	52	799											
AMICA1	120425	broad.mit.edu	37	chr11	118074267	118074267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagcatgatggaaccGtcattgcggaaaatgtcccc	11	9	10	11	2	1	2	1	2	0	0	2	4	2	4	4	2	3	1	4	2	4	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:118074267G>A	ENST00000356289.5	-	6	821	c.648C>T	c.(646-648)gaC>gaT	p.D216D	AMICA1_ENST00000526620.1_Silent_p.D177D|AMICA1_ENST00000533261.1_Silent_p.D205D|AMICA1_ENST00000292067.7_Silent_p.D206D	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	216	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGATGGAACCGTCATTGCGGA	0.512																																						uc001psk.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(646-648)gaC>gaT		Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.							191	183	186					11																	118074267		2200	4296	6496	SO:0001819	synonymous_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118074267G>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.648C>T	11.37:g.118074267G>A						AMICA1_uc001psg.2_Silent_p.D26D|AMICA1_uc001psh.2_Silent_p.D177D|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.D206D|AMICA1_uc010rxw.1_Silent_p.D177D|AMICA1_uc010rxx.1_Silent_p.D216D|AMICA1_uc001psl.1_Silent_p.D172D	p.D216D	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	5	822	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	216			Ig-like V-type 2.		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.648C>T	CCDS41723.1																																																																																				0.512	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		A	118074267	G	A	118074267	2	1	11	1	0	0	0	0	0	0	0	1	574	1136	40	1		1	AMICA1	11	118074267	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	4217503	118074267	16932249	53	800											
LPAR5	57121	broad.mit.edu	37	chr12	6729601	6729601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccgcgcacgcgatcgcGggcaggcacgctggccgcca	6	2	14	19	8	0	0	0	0	0	0	1	1	0	0	4	3	0	4	4	3	0	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:6729601G>A	ENST00000329858.4	-	2	1570	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LPAR5_ENST00000431922.1_Missense_Mutation_p.R272C|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACGCGATCGCGGGCAGGCACG	0.667																																					NSCLC(74;891 2312 37538)	uc009zer.2																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(814-816)Cgc>Tgc		Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.							11	11	11					12																	6729601		2174	4253	6427	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729601G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.814C>T	12.37:g.6729601G>A	ENSP00000327875:p.Arg272Cys					LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C|LPAR5_uc021qub.1_Missense_Mutation_p.R272C	p.R272C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN			1	1095	-			272						Missense_Mutation	SNP	ENST00000329858.4	37	c.814C>T	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703160	0.30232	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.72167	-0.63;-0.63	4.89	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.377307	0.22478	N	0.059530	T	0.59582	0.2204	L	0.49640	1.575	0.19575	N	0.999964	B	0.30511	0.282	B	0.19148	0.024	T	0.56080	-0.8038	10	0.56958	D	0.05	.	8.2077	0.31465	0.0787:0.0:0.7633:0.158	.	272	Q9H1C0	LPAR5_HUMAN	C	272	ENSP00000327875:R272C;ENSP00000393098:R272C	ENSP00000327875:R272C	R	-	1	0	LPAR5	6599862	0.001000	0.12720	0.753000	0.31225	0.307000	0.27823	1.006000	0.29847	1.252000	0.44001	0.491000	0.48974	CGC		0.667	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		A	6729601	G	A	6729601	3	1	11	1	0	0	0	0	1	0	0	0	8908	1116	39	2	308	2	LPAR5	12	6729601	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		6729601	127122294	54	801											
PTPN6	5777	broad.mit.edu	37	chr12	7069104	7069104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcgccggcatcggccGcacaggcaccatcattgtca	8	5	10	18	4	2	0	2	0	0	0	3	0	2	0	5	3	1	3	5	3	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:7069104G>A	ENST00000318974.9	+	12	1620	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPN6_ENST00000539029.1_3'UTR|PTPN6_ENST00000456013.1_Missense_Mutation_p.R459H|PTPN6_ENST00000399448.1_Missense_Mutation_p.R461H|PTPN6_ENST00000447931.2_Missense_Mutation_p.R420H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	459	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCATCGGCCGCACAGGCACC	0.672																																						uc001qsb.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(1375-1377)cGc>cAc		Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.							80	85	84					12																	7069104		1911	4109	6020	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7069104G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1376G>A	12.37:g.7069104G>A	ENSP00000326010:p.Arg459His					PTPN6_uc001qsa.1_Missense_Mutation_p.R461H|PTPN6_uc010sfr.1_Missense_Mutation_p.R420H|PTPN6_uc009zfl.1_Missense_Mutation_p.R459H|PTPN6_uc010sfs.1_Missense_Mutation_p.R447H	p.R459H	NM_002831	NP_002822	P29350	PTN6_HUMAN			11	1618	+			459			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.1376G>A	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456835	0.84317	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	4.25	4.25	0.50352	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.997;0.998;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	16.8568	0.86008	0.0:0.0:1.0:0.0	.	447;420;459;459;461	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	461;420;459;459	ENSP00000382376:R461H;ENSP00000415979:R420H;ENSP00000326010:R459H;ENSP00000391592:R459H	ENSP00000326010:R459H	R	+	2	0	PTPN6	6939365	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.171000	0.94802	2.203000	0.70933	0.561000	0.74099	CGC		0.672	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		A	7069104	G	A	7069104	3	1	11	1	0	0	0	0	1	0	0	0	12792	1087	38	1	1440	1	PTPN6	12	7069104	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	339503	7069104	126782791	55	802											
KLRC3	3823	broad.mit.edu	37	chr12	10573119	10573119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgggccagactcaCttctgagaaggttcctcttt	6	13	11	11	0	3	2	1	1	2	2	5	3	5	2	3	3	0	1	3	3	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10573119C>A	ENST00000396439.2	-	1	75	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.V11L|KLRC3_ENST00000381904.2_Missense_Mutation_p.V11L	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	11					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCCAGACTCACTTCTGAGAAG	0.423																																						uc001qyi.1																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(31-33)Gtg>Ttg		Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.							75	81	79					12																	10573119		2202	4299	6501	SO:0001583	missense	3823				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10573119C>A	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.31G>T	12.37:g.10573119C>A	ENSP00000379716:p.Val11Leu					KLRC2_uc001qyf.3_Missense_Mutation_p.V11L|KLRC2_uc021qvc.1_Missense_Mutation_p.V11L|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.V11L	p.V11L	NM_007333	NP_031359	P26717	NKG2C_HUMAN			0	76	-			11					Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.31G>T	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.151787	0.00325	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.06933	3.24;3.24;3.24	2.55	-1.85	0.07784	.	0.581086	0.14452	N	0.318745	T	0.01592	0.0051	N	0.00926	-1.1	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.39921	-0.9590	10	0.02654	T	1	.	1.9191	0.03303	0.1311:0.384:0.2983:0.1867	.	11;11	Q07444-2;Q07444	.;NKG2E_HUMAN	L	11	ENSP00000379716:V11L;ENSP00000371329:V11L;ENSP00000371328:V11L	ENSP00000371328:V11L	V	-	1	0	KLRC3	10464386	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.755000	0.04782	-0.460000	0.07003	-1.335000	0.01260	GTG		0.423	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		A	10573119	C	A	10573119	3	1	11	1	0	0	0	0	1	0	0	0	8417	565	20	5	815	5	KLRC3	12	10573119	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	3504015	10573119	123278776	56	803											
KLRC2	3823	broad.mit.edu	37	chr12	10588555	10588555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgggccagactcaCttctgagaaggttcctcttt	6	13	11	11	0	3	2	1	1	2	2	5	3	5	2	3	3	0	1	3	3	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10588555C>A	ENST00000539033.1	-	1	45	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_ENST00000381902.2_Missense_Mutation_p.V11L|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.V11L																							GCCAGACTCACTTCTGAGAAG	0.423																																						uc001qyh.3																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(31-33)Gtg>Ttg		Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.							231	216	221					12																	10588555		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10588555C>A																												ENST00000539033.1:c.31G>T	12.37:g.10588555C>A	ENSP00000437563:p.Val11Leu					KLRC2_uc010she.1_Missense_Mutation_p.V11L|KLRC2_uc001qyk.2_Missense_Mutation_p.V11L	p.V11L	NM_002261	NP_002252	P26717	NKG2C_HUMAN			0	38	-			11						Missense_Mutation	SNP	ENST00000539033.1	37	c.31G>T		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.812254	0.00600	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.06933	3.24;3.24;3.24	2.38	-1.51	0.08664	.	0.581086	0.14452	N	0.318745	T	0.01592	0.0051	N	0.00633	-1.31	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.41893	-0.9483	10	0.02654	T	1	.	4.9432	0.13976	0.1492:0.3926:0.4582:0.0	.	11;11	P26717;F5H6K3	NKG2C_HUMAN;.	L	11	ENSP00000437563:V11L;ENSP00000371327:V11L;ENSP00000371326:V11L	ENSP00000371326:V11L	V	-	1	0	KLRC2;RP11-277P12.6	10479822	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.052000	0.14163	-0.545000	0.06224	0.184000	0.17185	GTG		0.423	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			A	10588555	C	A	10588555	3	1	11	1	0	0	0	0	1	0	0	0	8416	565	20	5	688	5	KLRC2	12	10588555	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	15436	10588555	123263340	57	804											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944924	43944924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccgtaggcagtgaagcGatagtgggttcggaacggca	9	7	16	9	4	0	1	0	1	0	0	1	3	0	2	1	4	3	4	1	4	4	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:43944924G>A	ENST00000389420.3	-	2	240	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R81C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	81					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(241-243)Cgc>Tgc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							104	101	102					12																	43944924		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944924G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.241C>T	12.37:g.43944924G>A	ENSP00000374071:p.Arg81Cys						p.R81C	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	1	241	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	81					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.241C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824769	0.71143	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.07216	3.21;3.21	3.81	2.91	0.33838	Peptidase M12B, propeptide (1);	0.000000	0.37577	N	0.002039	T	0.28995	0.0720	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.18587	-1.0332	10	0.87932	D	0	.	14.0776	0.64900	0.0:0.1525:0.8475:0.0	.	81	P59510	ATS20_HUMAN	C	81	ENSP00000374071:R81C;ENSP00000448341:R81C	ENSP00000374068:R81C	R	-	1	0	ADAMTS20	42231191	1.000000	0.71417	0.992000	0.48379	0.815000	0.46073	3.592000	0.53993	1.160000	0.42584	0.655000	0.94253	CGC		0.617	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43944924	G	A	43944924	3	1	11	1	0	0	0	0	1	0	0	0	266	1058	37	2	5642	2	ADAMTS20	12	43944924	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	33356369	43944924	89906971	58	805											
TTC8	123016	broad.mit.edu	37	chr14	89336533	89336533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagaaatagctctccGgttttacaggtgcacttcac	10	11	8	12	1	3	1	2	0	1	1	4	1	3	1	2	2	4	3	2	2	3	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:89336533G>T	ENST00000345383.5	+	10	1094	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	TTC8_ENST00000380656.2_Missense_Mutation_p.R347L|TTC8_ENST00000358622.5_Missense_Mutation_p.R149L|TTC8_ENST00000536576.1_Missense_Mutation_p.R108L|TTC8_ENST00000346301.4_Missense_Mutation_p.R307L|TTC8_ENST00000338104.6_Missense_Mutation_p.R363L|TTC8_ENST00000354441.6_Missense_Mutation_p.R82L	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	373					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATAGCTCTCCGGTTTTACAGG	0.358																																						uc010ath.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1087-1089)cGg>cTg		Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.							166	158	160					14																	89336533		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89336533G>T	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1010G>T	14.37:g.89336533G>T	ENSP00000339486:p.Arg337Leu					TTC8_uc001xxi.3_Missense_Mutation_p.R347L|TTC8_uc001xxj.3_Missense_Mutation_p.R337L|TTC8_uc001xxk.3_Missense_Mutation_p.R307L|TTC8_uc001xxl.3_Missense_Mutation_p.R108L|TTC8_uc010ati.3_Missense_Mutation_p.R149L|TTC8_uc010atj.3_Missense_Mutation_p.R82L	p.R363L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			10	1222	+			373					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1088G>T	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.005332|5.005332	0.93287|0.93287	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622	.|T;T;T;T;T;T;T	.|0.54279	.|0.7;0.58;0.7;0.7;0.58;0.7;0.7	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73249|0.73249	0.3563|0.3563	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;P;D;P;P	.|0.69078	.|0.996;0.767;0.997;0.91;0.85	.|P;B;D;P;P	.|0.76071	.|0.857;0.177;0.987;0.618;0.463	T|T	0.70317|0.70317	-0.4905|-0.4905	5|10	.|0.34782	.|T	.|0.22	-22.8127|-22.8127	19.6472|19.6472	0.95784|0.95784	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|82;108;373;317;347	.|Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|.;.;TTC8_HUMAN;.;.	C|L	297|337;108;307;363;82;347;149	.|ENSP00000339486:R337L;ENSP00000445067:R108L;ENSP00000298324:R307L;ENSP00000337653:R363L;ENSP00000346427:R82L;ENSP00000370031:R347L;ENSP00000351439:R149L	.|ENSP00000337653:R363L	G|R	+|+	1|2	0|0	TTC8|TTC8	88406286|88406286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	9.390000|9.390000	0.97246|0.97246	2.641000|2.641000	0.89580|0.89580	0.555000|0.555000	0.69702|0.69702	GGT|CGG		0.358	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		T	89336533	G	T	89336533	3	4	11	1	0	0	0	0	1	0	0	0	16711	1116	39	5	1082	5	TTC8	14	89336533	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		89336533	18013007	59	806											
DIO3	1735	broad.mit.edu	37	chr14	102028704	102028704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgcacttggttggaaCgctatgatgagcaactgcac	10	9	12	10	2	0	2	0	2	0	0	0	3	0	3	0	2	6	6	0	2	3	3	rs554569043		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:102028704C>T	ENST00000510508.4	+	1	1017	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	DIO3_ENST00000359323.3_Missense_Mutation_p.R265C|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	291					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGGTTGGAACGCTATGATGA	0.592													C|||	1	0.000199681	0	0	5008	,	,		20621	0		0	False		,,,				2504	0.001					uc021sdx.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(871-873)Cgc>Tgc		Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.							50	55	54					14																	102028704		2069	4193	6262	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028704C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.871C>T	14.37:g.102028704C>T	ENSP00000427336:p.Arg291Cys					DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	p.R291C	NM_001362	NP_001353	P55073	IOD3_HUMAN			0	1017	+		all_neural(303;0.185)	265					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.871C>T	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950859	0.73787	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.34859	1.34;1.34	3.86	2.96	0.34315	.	0.381500	0.20681	U	0.087648	T	0.42854	0.1221	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	P	0.57244	0.816	T	0.35624	-0.9781	10	0.87932	D	0	.	10.8517	0.46773	0.0:0.9062:0.0:0.0938	.	265	P55073	IOD3_HUMAN	C	265;291	ENSP00000352273:R265C;ENSP00000427336:R291C	ENSP00000352273:R291C	R	+	1	0	DIO3;AL049836.1	101098457	1.000000	0.71417	0.998000	0.56505	0.532000	0.34746	2.855000	0.48333	0.831000	0.34780	0.462000	0.41574	CGC		0.592	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		T	102028704	C	T	102028704	3	4	11	1	0	0	0	0	1	0	0	0	4526	536	19	1	873	1	DIO3	14	102028704	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	12692171	102028704	5320836	60	807											
SEPT12	124404	broad.mit.edu	37	chr16	4836007	4836007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaatgcagctgcagcGtctggggtgtgggcaccccc	6	8	15	12	1	2	1	1	1	1	0	2	1	2	1	2	3	4	4	2	3	1	0	rs199696526	byFrequency	TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:4836007G>A	ENST00000268231.8	-	3	529	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.T89M|SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589327.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	89	Septin-type G.		T -> M (in SPGF10; results in significantly reduced GTP hydrolysis; dbSNP:rs199696526). {ECO:0000269|PubMed:22275165}.		cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGCTGCAGCGTCTGGGGTGT	0.637													G|||	2	0.000399361	8e-04	0	5008	,	,		11854	0.001		0	False		,,,				2504	0					uc002cxq.3																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(265-267)aCg>aTg		Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.							44	40	42					16																	4836007		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4836007G>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.266C>T	16.37:g.4836007G>A	ENSP00000268231:p.Thr89Met					SEPT12_uc002cxr.3_Missense_Mutation_p.T89M|SEPT12_uc010bty.3_Non-coding_Transcript|LOC440335_uc021tcl.1_5'Flank|LOC440335_uc002cxt.3_5'Flank	p.T89M	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			2	530	-			89					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.266C>T	CCDS10522.1	59	0.027014652014652016	21	0.042682926829268296	6	0.016574585635359115	11	0.019230769230769232	21	0.027704485488126648	G	17.99	3.522867	0.64747	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	D;T	0.85258	-1.96;0.52	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88594	0.3145	10	0.87932	D	0	.	16.4624	0.84064	0.0:0.0:1.0:0.0	.	89;89	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	M	89	ENSP00000379922:T89M;ENSP00000268231:T89M	ENSP00000268231:T89M	T	-	2	0	SEPT12	4776008	1.000000	0.71417	0.988000	0.46212	0.255000	0.26057	9.509000	0.98002	2.447000	0.82792	0.551000	0.68910	ACG		0.637	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		A	4836007	G	A	4836007	3	1	11	1	0	0	0	0	1	0	0	0	14062	1145	40	1	842	1	SEPT12	16	4836007	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		4836007	85518746	61	808											
ZNF768	79724	broad.mit.edu	37	chr16	30535933	30535933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgcacttgtaaggccgctCgccactgtggacccggtgat	7	9	12	13	4	0	1	0	1	0	0	2	2	0	2	3	3	0	3	3	3	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:30535933C>T	ENST00000380412.5	-	2	1703	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ZNF768_ENST00000562803.1_Missense_Mutation_p.E479K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	510					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAAGGCCGCTCGCCACTGTGG	0.701																																						uc002dyk.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1528-1530)Gag>Aag		Homo sapiens zinc finger protein 768 (ZNF768), mRNA.							40	37	38					16																	30535933		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30535933C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1528G>A	16.37:g.30535933C>T	ENSP00000369777:p.Glu510Lys					ZNF768_uc010vex.2_Missense_Mutation_p.E479K|ZNF768_uc010vew.2_Missense_Mutation_p.E479K	p.E510K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			1	1704	-			510					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1528G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272372	0.59649	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.24350	1.86	4.72	4.72	0.59763	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174646	0.27700	N	0.018215	T	0.41719	0.1171	L	0.45137	1.4	0.50632	D	0.99988	D	0.76494	0.999	D	0.64042	0.921	T	0.23691	-1.0181	10	0.56958	D	0.05	-8.8221	16.5926	0.84770	0.0:1.0:0.0:0.0	.	510	Q9H5H4	ZN768_HUMAN	K	510;423	ENSP00000369777:E510K	ENSP00000369777:E510K	E	-	1	0	ZNF768	30443434	0.999000	0.42202	0.985000	0.45067	0.115000	0.19883	3.699000	0.54778	2.470000	0.83445	0.436000	0.28706	GAG		0.701	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		T	30535933	C	T	30535933	3	4	11	1	0	0	0	0	1	0	0	0	18138	893	31	2	98	2	ZNF768	16	30535933	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	25699926	30535933	59818820	62	809											
CAMKK1	84254	broad.mit.edu	37	chr17	3779601	3779601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgctggacagctgagcGtcgttcccctcaaactggtt	6	10	12	13	3	1	1	1	1	0	0	3	2	2	2	3	2	4	4	3	2	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:3779601G>A	ENST00000348335.2	-	10	1060	c.912C>T	c.(910-912)gaC>gaT	p.D304D	CAMKK1_ENST00000381771.2_Silent_p.D342D|CAMKK1_ENST00000158166.5_Silent_p.D342D|CAMKK1_ENST00000381769.2_Silent_p.D331D	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACAGCTGAGCGTCGTTCCCCT	0.612																																						uc002fwv.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1024-1026)gaC>gaT		Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.							152	112	125					17																	3779601		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3779601G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.912C>T	17.37:g.3779601G>A						CAMKK1_uc002fwt.3_Silent_p.D304D|CAMKK1_uc002fwu.3_Silent_p.D304D	p.D342D	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1174	-			304			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.1026C>T	CCDS11038.1																																																																																				0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		A	3779601	G	A	3779601	2	1	11	1	0	0	0	0	0	0	0	1	2606	1136	40	1		1	CAMKK1	17	3779601	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		3779601	77415609	63	810											
NF1	4763	broad.mit.edu	37	chr17	29662002	29662002	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgaccatcaatgaaaaaCagatgtacccatctattcaa	18	9	4	10	0	3	3	2	2	1	1	3	3	3	3	2	0	2	1	2	0	7	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29662002C>T	ENST00000358273.4	+	40	6342	c.5959C>T	c.(5959-5961)Cag>Tag	p.Q1987*	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1966*|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1987					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q1987*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAATGAAAAACAGATGTACCC	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	p.0?(8)|p.?(3)|p.Q1987*(2)|p.K1986fs*27(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM001261	NF1	M		c.(5959-5961)Cag>Tag		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							105	93	97					17																	29662002		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29662002C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5959C>T	17.37:g.29662002C>T	ENSP00000351015:p.Gln1987*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.Q1966*|NF1_uc010cso.3_Nonsense_Mutation_p.Q175*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.Q1987*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	6342	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1987					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5959C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	49	15.064586	0.99821	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	.	.	.	X	1987;1966;1632	.	ENSP00000348498:Q1966X	Q	+	1	0	NF1	26686128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.322000	0.79097	2.620000	0.88729	0.557000	0.71058	CAG		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29662002	C	T	29662002	4	4	11	1	0	0	0	0	0	1	0	0	10356	479	17	3	6178	3	NF1	17	29662002	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	25882401	29662002	51533208	64	811											
NF1	4763	broad.mit.edu	37	chr17	29667596	29667596	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtcaacttgtattCagcaggtaccgcacttcttg	9	13	10	9	1	3	2	2	2	1	0	3	2	3	2	1	2	3	4	1	2	3	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29667596C>A	ENST00000358273.4	+	47	7378	c.6995C>A	c.(6994-6996)tCa>tAa	p.S2332*	NF1_ENST00000444181.2_Nonsense_Mutation_p.S125*|NF1_ENST00000356175.3_Nonsense_Mutation_p.S2311*|NF1_ENST00000417592.2_Nonsense_Mutation_p.S45*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2332					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S2332*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTTGTATTCAGCAGGTACC	0.448			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	p.0?(8)|p.?(3)|p.S2332*(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6994-6996)tCa>tAa		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							119	106	111					17																	29667596		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667596C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6995C>A	17.37:g.29667596C>A	ENSP00000351015:p.Ser2332*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.S2311*|NF1_uc010cso.3_Nonsense_Mutation_p.S520*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	p.S2332*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	46	7378	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2332					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.6995C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572901	0.96553	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	20.6524	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	X	2332;2311;1977;125;45	.	ENSP00000348498:S2311X	S	+	2	0	NF1	26691722	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.240000	0.78192	2.890000	0.99128	0.585000	0.79938	TCA		0.448	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29667596	C	A	29667596	4	1	11	1	0	0	0	0	0	1	0	0	10356	838	29	5	7242	5	NF1	17	29667596	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	5594	29667596	51527614	65	812											
KRT37	8688	broad.mit.edu	37	chr17	39578641	39578641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggctcaatgtccagctCgatccggaacttctccccca	7	9	10	15	2	2	0	1	0	1	0	6	2	4	1	4	3	2	2	4	3	2	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:39578641C>T	ENST00000225550.3	-	4	777	c.778G>A	c.(778-780)Gag>Aag	p.E260K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	260	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATGTCCAGCTCGATCCGGAAC	0.552																																						uc002hwp.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(778-780)Gag>Aag		Homo sapiens keratin 37 (KRT37), mRNA.							173	167	169					17																	39578641		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578641C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.778G>A	17.37:g.39578641C>T	ENSP00000225550:p.Glu260Lys						p.E260K	NM_003770	NP_003761	O76014	KRT37_HUMAN			3	825	-		Breast(137;0.000496)	260			Linker 12.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.778G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	16.69	3.194429	0.58017	.	.	ENSG00000108417	ENST00000225550	D	0.92495	-3.05	5.04	4.08	0.47627	Filament (1);	0.129809	0.34676	N	0.003776	D	0.90686	0.7078	M	0.79693	2.465	0.31013	N	0.718968	B	0.29766	0.256	B	0.29077	0.098	D	0.89223	0.3572	10	0.62326	D	0.03	.	8.3571	0.32338	0.0:0.761:0.1557:0.0833	.	260	O76014	KRT37_HUMAN	K	260	ENSP00000225550:E260K	ENSP00000225550:E260K	E	-	1	0	KRT37	36832167	0.998000	0.40836	0.305000	0.25099	0.737000	0.42083	4.017000	0.57167	1.117000	0.41842	0.655000	0.94253	GAG		0.552	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		T	39578641	C	T	39578641	3	4	11	1	0	0	0	0	1	0	0	0	8474	893	31	2	587	2	KRT37	17	39578641	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	9911045	39578641	41616569	66	813											
CLEC4M	10332	broad.mit.edu	37	chr19	7831634	7831634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaactggcacgactccGtcaccgcctgccaggaagtg	9	5	13	14	4	1	0	1	0	0	0	2	3	2	2	4	3	3	1	4	3	2	0	rs371058590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:7831634G>A	ENST00000327325.5	+	5	995	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	CLEC4M_ENST00000248228.4_Missense_Mutation_p.V271I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.V226I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.V293I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V265I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.V157I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.V201I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.V242I|CLEC4M_ENST00000359059.5_Missense_Mutation_p.V226I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.V281I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	293	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GCACGACTCCGTCACCGCCTG	0.597																																						uc010dvt.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(877-879)Gtc>Atc		Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	95	86	89		724,805,469,676,601,739,808,793,877	-5.1	0	19		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	29,29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign	242/349,269/376,157/264,226/333,201/233,247/354,270/377,265/297,293/400	7831634	1,13005	2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831634G>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.877G>A	19.37:g.7831634G>A	ENSP00000316228:p.Val293Ile					CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.V270I|CLEC4M_uc010xjw.2_Missense_Mutation_p.V226I|CLEC4M_uc010dvs.3_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.2_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.3_Missense_Mutation_p.V201I|CLEC4M_uc002mic.3_Missense_Mutation_p.V265I|CLEC4M_uc002mia.3_Missense_Mutation_p.V157I	p.V293I	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN			4	995	+			293			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.877G>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	G	1.325	-0.598356	0.03744	0.0	1.16E-4	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	2.57	-5.14	0.02875	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.10078	0.0247	L	0.37800	1.135	0.09310	N	1	B;B;B;B;B;B;B;B	0.21753	0.004;0.008;0.06;0.005;0.002;0.019;0.005;0.019	B;B;B;B;B;B;B;B	0.19391	0.003;0.003;0.025;0.008;0.002;0.008;0.008;0.012	T	0.40683	-0.9550	9	0.12430	T	0.62	.	7.7559	0.28923	0.1522:0.1258:0.7221:0.0	.	242;226;293;281;270;265;157;201	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	I	293;281;271;242;226;293;237	ENSP00000316228:V293I;ENSP00000377680:V281I;ENSP00000248228:V271I;ENSP00000335228:V242I;ENSP00000351954:V226I;ENSP00000349924:V293I	ENSP00000248228:V271I	V	+	1	0	CLEC4M	7737634	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.753000	0.00791	-1.740000	0.01345	-0.358000	0.07595	GTC		0.597	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		A	7831634	G	A	7831634	3	1	11	1	0	0	0	0	1	0	0	0	3518	1145	40	1	916	1	CLEC4M	19	7831634	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		7831634	51297349	67	814											
NCAN	1463	broad.mit.edu	37	chr19	19337603	19337603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctagcgacatgggggcaGgcactgcagcaagttcacac	10	5	13	13	1	1	0	1	0	0	0	1	1	1	0	1	3	3	5	1	3	2	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:19337603G>C	ENST00000252575.6	+	7	1480	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	461					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CATGGGGGCAGGCACTGCAGC	0.642																																						uc002nlz.3																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1381-1383)Ggc>Cgc		Homo sapiens neurocan (NCAN), mRNA.							33	32	32					19																	19337603		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337603G>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1381G>C	19.37:g.19337603G>C	ENSP00000252575:p.Gly461Arg					NCAN_uc010ecc.1_Missense_Mutation_p.G25R	p.G461R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		6	1480	+			461					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1381G>C	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510879	0.44660	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.83673	-1.75	4.48	1.09	0.20402	.	0.850231	0.09807	N	0.753286	T	0.67664	0.2917	N	0.14661	0.345	0.09310	N	1	P;B	0.45348	0.856;0.232	B;B	0.43575	0.424;0.206	T	0.56420	-0.7982	10	0.17369	T	0.5	.	5.8111	0.18467	0.3536:0.0:0.6464:0.0	.	475;461	Q4LE67;O14594	.;NCAN_HUMAN	R	475;461	ENSP00000252575:G461R	ENSP00000252575:G461R	G	+	1	0	NCAN	19198603	0.187000	0.23238	0.000000	0.03702	0.009000	0.06853	2.549000	0.45803	0.308000	0.22923	0.491000	0.48974	GGC		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		C	19337603	G	C	19337603	3	2	11	1	0	0	0	0	1	0	0	0	10204	1000	35	5	1403	5	NCAN	19	19337603	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	11505969	19337603	39791380	68	815											
PAPL	390928	broad.mit.edu	37	chr19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgagcactcgtatgaaCgactgtggccaatttacaac	12	10	8	11	2	1	2	1	2	0	0	2	3	1	2	1	1	4	2	1	1	5	3	rs560738276		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:39591969C>T	ENST00000331256.5	+	10	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_ENST00000594229.1_Silent_p.N297N	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		339						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTCGTATGAACGACTGTGGCC	0.597																																						uc002oki.3																			0											c.(1015-1017)Cga>Tga		Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.							99	90	93					19																	39591969		2203	4300	6503	SO:0001587	stop_gained	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591969C>T																												ENST00000331256.5:c.1015C>T	19.37:g.39591969C>T	ENSP00000327557:p.Arg339*					PAPL_uc010egl.3_Silent_p.N297N	p.R339*	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			9	1289	+			339					B2RN68	Nonsense_Mutation	SNP	ENST00000331256.5	37	c.1015C>T	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047387	0.97236	.	.	ENSG00000183760	ENST00000331256	.	.	.	5.18	3.01	0.34805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2547	8.3784	0.32457	0.1537:0.7641:0.0:0.0822	.	.	.	.	X	339	.	ENSP00000327557:R339X	R	+	1	2	AC011443.1	44283809	0.995000	0.38212	0.082000	0.20525	0.389000	0.30415	1.132000	0.31418	0.734000	0.32515	0.655000	0.94253	CGA		0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			T	39591969	C	T	39591969	4	4	11	1	0	0	0	0	0	1	0	0	11427	528	19	1	1049	1	PAPL	19	39591969	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	20254366	39591969	19537014	69	816											
RSPO4	343637	broad.mit.edu	37	chr20	947858	947858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggccaaagtgcccggcGggcaggtgggcagacacttc	7	5	18	11	2	0	1	0	0	0	1	1	1	0	1	2	6	1	2	2	6	1	1	rs370909673		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr20:947858G>A	ENST00000217260.4	-	3	464	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_ENST00000400634.2_Missense_Mutation_p.P123L	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	123					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647																																						uc002wej.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(367-369)cCg>cTg		Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO	1,3929		0,1,1964	49	50	49		368,368	5.2	0.9	20		49	0,8334		0,0,4167	no	missense,missense	RSPO4	NM_001029871.3,NM_001040007.2	98,98	0,1,6131	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging,probably-damaging	123/235,123/173	947858	1,12263	1965	4167	6132	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:947858G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.368C>T	20.37:g.947858G>A	ENSP00000217260:p.Pro123Leu					RSPO4_uc002wek.3_Missense_Mutation_p.P123L	p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			2	468	-			123					A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.368C>T	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452693	0.84209	2.54E-4	0.0	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.85861	-2.04;-2.04	5.21	5.21	0.72293	Growth factor, receptor (1);	0.000000	0.64402	D	0.000002	D	0.92381	0.7582	M	0.79475	2.455	0.58432	D	0.999992	D;D	0.89917	0.998;1.0	P;D	0.91635	0.823;0.999	D	0.93277	0.6657	10	0.87932	D	0	-19.4322	17.345	0.87308	0.0:0.0:1.0:0.0	.	123;123	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	L	123	ENSP00000217260:P123L;ENSP00000383475:P123L	ENSP00000217260:P123L	P	-	2	0	RSPO4	895858	1.000000	0.71417	0.945000	0.38365	0.921000	0.55340	7.944000	0.87722	2.432000	0.82394	0.455000	0.32223	CCG		0.647	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		A	947858	G	A	947858	3	1	11	1	0	0	0	0	1	0	0	0	13712	1116	39	2	348	2	RSPO4	20	947858	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		947858	62077662	70	817											
POTED	317754	broad.mit.edu	37	chr21	14982928	14982928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagactacgaccacagcGccttcatggagccgaggtac	10	5	14	12	3	1	1	1	0	0	1	1	5	1	2	3	4	4	1	3	4	2	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:14982928G>A	ENST00000299443.5	+	1	431	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	127						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CGACCACAGCGCCTTCATGGA	0.597																																						uc002yjb.1																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(379-381)Gcc>Acc		Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.							35	53	50					21																	14982928		824	3155	3979	SO:0001583	missense	317754					plasma membrane		g.chr21:14982928G>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.379G>A	21.37:g.14982928G>A	ENSP00000299443:p.Ala127Thr						p.A127T	NM_174981	NP_778146	Q86YR6	POTED_HUMAN			0	431	+			127					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.379G>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615356	0.28801	.	.	ENSG00000166351	ENST00000299443	T	0.28069	1.63	1.07	-2.14	0.07123	.	.	.	.	.	T	0.27731	0.0682	L	0.58101	1.795	0.09310	N	1	D	0.53312	0.959	P	0.45971	0.499	T	0.16778	-1.0391	9	0.24483	T	0.36	.	5.8866	0.18884	0.4351:0.0:0.5649:0.0	.	127	Q86YR6	POTED_HUMAN	T	127	ENSP00000299443:A127T	ENSP00000299443:A127T	A	+	1	0	POTED	13904799	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.820000	0.04457	-1.298000	0.02348	-1.109000	0.02080	GCC		0.597	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		A	14982928	G	A	14982928	3	1	11	1	0	0	0	0	1	0	0	0	12263	1087	38	1	381	1	POTED	21	14982928	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		14982928	33146967	71	818											
PRDM15	63977	broad.mit.edu	37	chr21	43291677	43291677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgtcggacacctcattcCctagagatgtttccaagagc	10	10	9	12	1	1	2	1	0	0	2	4	4	3	3	3	1	1	1	3	1	2	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:43291677C>T	ENST00000269844.3	-	4	577	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACCTCATTCCCTAGAGATGT	0.582																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(466-468)gGg>gAg		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							142	116	124					21																	43291677		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43291677C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.467G>A	21.37:g.43291677C>T	ENSP00000269844:p.Gly156Glu					PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	p.G156E	NM_022115	NP_071398	P57071	PRD15_HUMAN			3	578	-			156					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.467G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.692025	0.15039	.	.	ENSG00000141956	ENST00000269844	T	0.12147	2.71	0.941	-8.14E-4	0.14037	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.24963	0.115	B	0.17433	0.018	T	0.34725	-0.9817	9	0.87932	D	0	.	3.167	0.06539	0.0:0.6788:0.0:0.3212	.	156	P57071	PRD15_HUMAN	E	156	ENSP00000269844:G156E	ENSP00000269844:G156E	G	-	2	0	PRDM15	42164746	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.741000	0.04855	-0.019000	0.14055	0.313000	0.20887	GGG		0.582	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		T	43291677	C	T	43291677	3	4	11	1	0	0	0	0	1	0	0	0	12456	623	22	3	4168	3	PRDM15	21	43291677	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	28308749	43291677	4838218	72	819											
MICAL3	57553	broad.mit.edu	37	chr22	18274039	18274039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgaaccactcctgcatCagcttggggtcgtccttctt	6	13	9	13	1	2	1	1	1	1	0	5	1	4	1	3	2	4	3	3	2	1	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:18274039C>A	ENST00000441493.2	-	30	6031	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1893					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCCTGCATCAGCTTGGGGT	0.632																																						uc002zng.4																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(5677-5679)ctG>ctT		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.							84	90	88					22																	18274039		2181	4264	6445	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18274039C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5679G>T	22.37:g.18274039C>A						MICAL3_uc011agl.2_Silent_p.L1809L|MICAL3_uc010grd.2_Silent_p.L9L|MICAL3_uc010gre.2_Non-coding_Transcript	p.L1893L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	29	6032	-		all_epithelial(15;0.198)	1893					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.5679G>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091219	0.55968	.	.	ENSG00000093100	ENST00000252134	.	.	.	5.34	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1341	0.20221	0.137:0.6582:0.1324:0.0724	.	.	.	.	L	875	.	.	X	-	2	2	XXbac-B461K10.4	16654039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.936000	0.28938	1.216000	0.43427	0.591000	0.81541	TGA		0.632	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			A	18274039	C	A	18274039	2	1	11	1	0	0	0	0	0	0	0	1	9571	813	29	5		5	MICAL3	22	18274039	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08		18274039	33030527	73	820											
NAGA	4668	broad.mit.edu	37	chr22	42458930	42458930	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcggagatggtacgCaggtctgtggacatcaagag	9	9	16	7	2	3	2	1	0	2	2	3	4	3	3	0	5	1	2	0	5	2	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:42458930C>G	ENST00000396398.3	-	7	1390	c.858G>C	c.(856-858)ctG>ctC	p.L286L	NAGA_ENST00000403363.1_Silent_p.L286L|NAGA_ENST00000402937.1_Silent_p.L286L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	286					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGATGGTACGCAGGTCTGTGG	0.557																																						uc003bbw.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(856-858)ctG>ctC		Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.							106	92	96					22																	42458930		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42458930C>G		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.858G>C	22.37:g.42458930C>G							p.L286L	NM_000262	NP_000253	P17050	NAGAB_HUMAN			6	1403	-			286						Silent	SNP	ENST00000396398.3	37	c.858G>C	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	3.673	-0.067155	0.07273	.	.	ENSG00000198951	ENST00000481068	.	.	.	5.69	0.882	0.19172	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48422	-0.9037	4	.	.	.	-17.7087	8.5366	0.33366	0.1558:0.6088:0.1689:0.0664	.	.	.	.	P	164	.	.	A	-	1	0	NAGA	40788876	0.906000	0.30813	1.000000	0.80357	0.494000	0.33585	0.016000	0.13377	0.333000	0.23563	-1.134000	0.01955	GCG		0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			G	42458930	C	G	42458930	2	3	11	1	0	0	0	0	0	0	0	1	10141	697	25	5		5	NAGA	22	42458930	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	24184891	42458930	8845636	74	821											
PKDREJ	10343	broad.mit.edu	37	chr22	46655208	46655208	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatgttctgtccaaagTggtatcaacagaaagccatt	14	11	9	7	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	5	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:46655208T>G	ENST00000253255.5	-	1	4011	c.4012A>C	c.(4012-4014)Act>Cct	p.T1338P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1338	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTCCAAAGTGGTATCAACA	0.398																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4012-4014)Act>Cct		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							106	98	101					22																	46655208		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655208T>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4012A>C	22.37:g.46655208T>G	ENSP00000253255:p.Thr1338Pro						p.T1338P	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	4012	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1338			PLAT.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4012A>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778835	0.49891	.	.	ENSG00000130943	ENST00000253255	T	0.64438	-0.1	5.09	1.46	0.22682	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.725719	0.12428	N	0.469771	T	0.48624	0.1510	L	0.28274	0.84	0.21697	N	0.999583	P	0.42584	0.784	P	0.45167	0.472	T	0.30149	-0.9988	10	0.32370	T	0.25	-9.6437	5.5161	0.16908	0.3946:0.4008:0.0:0.2046	.	1338	Q9NTG1	PKDRE_HUMAN	P	1338	ENSP00000253255:T1338P	ENSP00000253255:T1338P	T	-	1	0	PKDREJ	45033872	0.000000	0.05858	0.984000	0.44739	0.822000	0.46500	0.353000	0.20130	0.347000	0.23924	0.418000	0.28097	ACT		0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46655208	T	G	46655208	3	3	11	1	0	0	0	0	1	0	0	0	11970	1696	59	5	2753	5	PKDREJ	22	46655208	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	4196278	46655208	4649358	75	822											
NPHP4	261734	broad.mit.edu	37	chr1	5969224	5969224	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttacccctggtcccacAggtgagttctgcggggcagc	6	8	14	13	1	1	1	0	1	1	0	2	2	2	2	3	5	3	2	3	5	1	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:5969224A>T	ENST00000378156.4	-	12	1756	c.1491T>A	c.(1489-1491)ccT>ccA	p.P497P	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	497					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTCCCACAGGTGAGTTCT	0.597																																						uc001alq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1489-1491)ccT>ccA		Homo sapiens nephronophthisis 4 (NPHP4), mRNA.							27	31	30					1																	5969224		1919	4111	6030	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5969224A>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1491T>A	1.37:g.5969224A>T						NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	p.P497P	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	11	1759	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	497					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1491T>A	CCDS44052.1																																																																																				0.597	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			T	5969224	A	T	5969224	2	4	12	1	0	0	0	0	0	0	0	1	10581	175	7	5		5	NPHP4	1	5969224	Silent	SNP	A	TCGA-06-0126-01A-01D-1490-08		5969224	243281397	1	823											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12253032	12253032	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccccagccagtgtccAcacgatcccaacacacgcag	12	5	6	18	2	0	0	0	0	0	0	2	1	2	0	5	0	3	1	5	0	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:12253032A>C	ENST00000376259.3	+	6	753	c.664A>C	c.(664-666)Aca>Cca	p.T222P	MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	222					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.T222P(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCCAGTGTCCACACGATCCCA	0.637																																						uc001att.3																			1	Substitution - Missense(1)	p.T222P(2)	central_nervous_system(1)	central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(664-666)Aca>Cca		Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	Etanercept(DB00005)|Infliximab(DB00065)						181	130	147					1																	12253032		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12253032A>C	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.664A>C	1.37:g.12253032A>C	ENSP00000365435:p.Thr222Pro					TNFRSF1B_uc001atu.3_Missense_Mutation_p.T27P|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	p.T222P	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	5	753	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	222					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.664A>C	CCDS145.1	.	.	.	.	.	.	.	.	.	.	A	9.899	1.206383	0.22205	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.87491	-2.26	3.98	1.4	0.22301	.	1.558280	0.03882	N	0.277190	D	0.83312	0.5227	L	0.51422	1.61	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.65594	-0.6130	10	0.62326	D	0.03	-0.9444	4.3122	0.10976	0.5872:0.2103:0.0:0.2026	.	222	P20333	TNR1B_HUMAN	P	222	ENSP00000365435:T222P	ENSP00000365435:T222P	T	+	1	0	TNFRSF1B	12175619	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	0.195000	0.17155	0.146000	0.19002	0.533000	0.62120	ACA		0.637	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		C	12253032	A	C	12253032	3	2	12	1	0	0	0	0	1	0	0	0	16291	159	6	5	686	5	TNFRSF1B	1	12253032	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	6283808	12253032	236997589	2	824											
THRAP3	9967	broad.mit.edu	37	chr1	36752347	36752347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagccgagttgaatcttcTaagcgcaagtctgcaaagga	13	9	10	9	2	3	1	0	1	3	0	3	3	3	2	1	1	3	3	1	1	5	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:36752347T>C	ENST00000354618.5	+	4	740	c.516T>C	c.(514-516)tcT>tcC	p.S172S	THRAP3_ENST00000469141.2_Silent_p.S172S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	172	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAATCTTCTAAGCGCAAGT	0.527			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.4				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(514-516)tcT>tcC		Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.							197	208	204					1																	36752347		2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752347T>C	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.516T>C	1.37:g.36752347T>C						THRAP3_uc001caf.4_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	p.S172S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			3	740	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	172			Ser-rich.		D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.516T>C	CCDS405.1																																																																																				0.527	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		C	36752347	T	C	36752347	2	2	12	1	0	0	0	0	0	0	0	1	15871	1509	53	4		4	THRAP3	1	36752347	Silent	SNP	T	TCGA-06-0126-01A-01D-1490-08	24499315	36752347	212498274	3	825											
C8A	731	broad.mit.edu	37	chr1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcctcgtgtccagggcGgaaagtacagacgcaggctt	9	6	16	10	3	0	1	0	0	0	1	2	2	1	2	2	5	1	3	2	5	2	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557																																						uc001cyo.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1729-1731)cGg>cAg		Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.							55	55	55					1																	57383364		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383364G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1730G>A	1.37:g.57383364G>A	ENSP00000354458:p.Arg577Gln						p.R577Q	NM_000562	NP_000553	P07357	CO8A_HUMAN			10	1862	+			577			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1730G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063564	0.36373	.	.	ENSG00000157131	ENST00000361249	T	0.52057	0.68	4.82	-6.34	0.01982	.	1.636630	0.02956	N	0.142483	T	0.24736	0.0600	N	0.16478	0.41	0.09310	N	1	P	0.46220	0.874	B	0.35688	0.208	T	0.29882	-0.9997	10	0.21014	T	0.42	0.9078	8.9304	0.35666	0.4956:0.1035:0.4009:0.0	.	577	P07357	CO8A_HUMAN	Q	577	ENSP00000354458:R577Q	ENSP00000354458:R577Q	R	+	2	0	C8A	57155952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-1.030000	0.03312	-0.251000	0.11542	CGG		0.557	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		A	57383364	G	A	57383364	3	1	12	1	0	0	0	0	1	0	0	0	2416	1116	39	2	1772	2	C8A	1	57383364	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	20631017	57383364	191867257	4	826											
LPAR3	23566	broad.mit.edu	37	chr1	85331129	85331142	+	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	ACTTGTATGCGGAG	-																															ctccggcggctgatggacccActtgtatgcggagacaagac																								rs140283678|rs149462985|rs571116834|rs549882595	byFrequency	TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85331129_85331142delACTTGTATGCGGAG	ENST00000440886.1	-	1	700_713	c.662_675delCTCCGCATACAAGT	c.(661-675)tctccgcatacaagtfs	p.SPHTS221fs	LPAR3_ENST00000370611.3_Frame_Shift_Del_p.SPHTS221fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	221					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGATGGACCCACTTGTATGCGGAGACAAGACGTT	0.509																																						uc001dkl.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(661-675)tctccgcatacaagtfs		Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331129_85331142delACTTGTATGCGGAG	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.662_675delCTCCGCATACAAGT	1.37:g.85331129_85331142delACTTGTATGCGGAG	ENSP00000395389:p.Ser221fs					LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs	p.S221fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			0	701_714	-			221					A0AVA3	Frame_Shift_Del	DEL	ENST00000440886.1	37	c.662_675delCTCCGCATACAAGT	CCDS700.1																																																																																				0.509	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		-	85331142	ACTTGTATGCGGAG	-	85331129	7	5	12	1	0	1	0	1	0	0	0	0	8906	156	6	0	394	0	LPAR3	1	85331129	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	TCGA-06-0126-01A-01D-1490-08	27947765	85331129	163919492	5	827											
SYDE2	84144	broad.mit.edu	37	chr1	85648703	85648703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccttaacgcttagctttCggctaaattctggcaacttt	8	16	6	11	2	1	0	0	0	1	0	3	0	2	0	1	2	3	4	1	2	5	7	rs561704514		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85648703C>T	ENST00000341460.5	-	3	1671	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	541					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GCTTAGCTTTCGGCTAAATTC	0.338																																						uc009wcm.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1621-1623)cGa>cAa		Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.							160	163	162					1																	85648703		1820	4074	5894	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648703C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1622G>A	1.37:g.85648703C>T	ENSP00000340594:p.Arg541Gln					SYDE2_uc001dku.4_Missense_Mutation_p.R541Q	p.R541Q	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1671	-			541					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1622G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584873	0.86748	.	.	ENSG00000097096	ENST00000341460	T	0.30981	1.51	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.81942	2.565	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.59716	-0.7402	10	0.72032	D	0.01	.	19.1693	0.93570	0.0:1.0:0.0:0.0	.	541;541	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	Q	541	ENSP00000340594:R541Q	ENSP00000340594:R541Q	R	-	2	0	SYDE2	85421291	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.484000	0.81180	2.554000	0.86153	0.644000	0.83932	CGA		0.338	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			T	85648703	C	T	85648703	3	4	12	1	0	0	0	0	1	0	0	0	15433	884	31	2	1982	2	SYDE2	1	85648703	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	317574	85648703	163601918	6	828											
KCNA10	3744	broad.mit.edu	37	chr1	111060591	111060591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgcaggtagactccacCatgaagaaagggtcggtgaa	14	6	13	8	2	0	4	0	2	0	2	2	5	1	4	2	3	1	2	2	3	4	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:111060591C>A	ENST00000369771.2	-	1	1206	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	273					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TAGACTCCACCATGAAGAAAG	0.532																																						uc001dzt.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(817-819)atG>atT		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.							181	142	155					1																	111060591		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060591C>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.819G>T	1.37:g.111060591C>A	ENSP00000358786:p.Met273Ile						p.M273I	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	0	1207	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	273						Missense_Mutation	SNP	ENST00000369771.2	37	c.819G>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907793	0.02434	.	.	ENSG00000143105	ENST00000369771	D	0.98044	-4.68	5.8	5.8	0.92144	.	0.316013	0.37219	N	0.002193	T	0.75932	0.3917	N	0.00128	-2.045	0.35983	D	0.836135	B	0.02656	0.0	B	0.04013	0.001	T	0.73711	-0.3897	10	0.02654	T	1	.	15.0643	0.71980	0.0:0.8575:0.1425:0.0	.	273	Q16322	KCA10_HUMAN	I	273	ENSP00000358786:M273I	ENSP00000358786:M273I	M	-	3	0	KCNA10	110862114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.874000	0.39568	2.749000	0.94314	0.655000	0.94253	ATG		0.532	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		A	111060591	C	A	111060591	3	1	12	1	0	0	0	0	1	0	0	0	8002	594	21	5	720	5	KCNA10	1	111060591	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	25411888	111060591	138190030	7	829											
FLG2	388698	broad.mit.edu	37	chr1	152326339	152326339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtagttccttgtcttctgCgaactgtggatcctgacttt	6	16	10	9	1	2	1	0	1	2	0	4	4	4	2	2	1	2	2	2	1	2	5	rs201967124		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:152326339C>T	ENST00000388718.5	-	3	3995	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1308					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCTGCGAACTGTGGA	0.473																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3922-3924)cGc>cAc		Homo sapiens filaggrin family member 2 (FLG2), mRNA.		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	406	354	372		3923	-4.5	0	1		372	0,8600	1.2+/-3.3	0,0,4300	yes	missense	FLG2	NM_001014342.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1308/2392	152326339	2,13004	2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326339C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3923G>A	1.37:g.152326339C>T	ENSP00000373370:p.Arg1308His					AK056431_uc001ezv.3_Intron	p.R1308H	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3996	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1308					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3923G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075378	0.20227	4.54E-4	0.0	ENSG00000143520	ENST00000388718	T	0.19532	2.14	3.26	-4.51	0.03483	.	.	.	.	.	T	0.03095	0.0091	N	0.11698	0.16	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.43829	-0.9367	9	0.36615	T	0.2	.	9.5514	0.39313	0.0:0.7025:0.0:0.2975	.	1308	Q5D862	FILA2_HUMAN	H	1308	ENSP00000373370:R1308H	ENSP00000373370:R1308H	R	-	2	0	FLG2	150592963	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.460000	0.00463	-0.814000	0.04352	-0.811000	0.03165	CGC		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152326339	C	T	152326339	3	4	12	1	0	0	0	0	1	0	0	0	5923	768	27	1	3256	1	FLG2	1	152326339	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	41265748	152326339	96924282	8	830											
ETV3L	440695	broad.mit.edu	37	chr1	157068567	157068567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccccagcagcaagtggggGgatggcggcgcccgcacttc	6	4	16	15	3	0	0	0	0	0	0	1	1	0	1	3	5	2	3	3	5	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:157068567G>T	ENST00000454449.2	-	3	701	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	139					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAAGTGGGGGGATGGCGGCG	0.602																																						uc001fqq.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(415-417)tcC>tcA		Homo sapiens ets variant 3-like (ETV3L), mRNA.							57	63	61					1																	157068567		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068567G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.417C>A	1.37:g.157068567G>T							p.S139S	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			2	702	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	139						Silent	SNP	ENST00000454449.2	37	c.417C>A	CCDS30893.1																																																																																				0.602	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		T	157068567	G	T	157068567	2	4	12	1	0	0	0	0	0	0	0	1	5280	1219	43	5		5	ETV3L	1	157068567	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	4742228	157068567	92182054	9	831											
PVRL4	81607	broad.mit.edu	37	chr1	161043074	161043074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccctcggctctcagccCtacactctcctccggctgca	4	9	9	19	2	2	0	1	0	2	0	6	0	3	0	4	3	3	3	4	3	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:161043074C>T	ENST00000368012.3	-	8	1551	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	417					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTCTCAGCCCTACACTCTCC	0.652																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1249-1251)Ggg>Agg		Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.							66	62	63					1																	161043074		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161043074C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1249G>A	1.37:g.161043074C>T	ENSP00000356991:p.Gly417Arg					PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	p.G417R	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		7	1548	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		417					B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1249G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028304	0.54790	.	.	ENSG00000143217	ENST00000368012	T	0.39787	1.06	4.58	4.58	0.56647	.	0.000000	0.47093	D	0.000257	T	0.27489	0.0675	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	T	0.06180	-1.0841	10	0.25751	T	0.34	.	12.8862	0.58045	0.0:1.0:0.0:0.0	.	417	Q96NY8	PVRL4_HUMAN	R	417	ENSP00000356991:G417R	ENSP00000356991:G417R	G	-	1	0	PVRL4	159309698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.810000	0.47979	2.081000	0.62600	0.655000	0.94253	GGG		0.652	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		T	161043074	C	T	161043074	3	4	12	1	0	0	0	0	1	0	0	0	12842	681	24	3	291	3	PVRL4	1	161043074	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	3974507	161043074	88207547	10	832											
RGS1	5996	broad.mit.edu	37	chr1	192547487	192547487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagaagagatatataaagCatttgtgcattcagatgctg	15	11	10	5	0	1	3	1	0	0	3	1	4	1	3	0	0	4	4	0	0	5	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:192547487C>G	ENST00000367459.3	+	4	482	c.416C>G	c.(415-417)gCa>gGa	p.A139G	RGS1_ENST00000469578.2_Missense_Mutation_p.A139G	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	139	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATATATAAAGCATTTGTGCAT	0.343																																						uc001gsi.1																			0				kidney(8)|large_intestine(1)|lung(13)	22						c.(415-417)gCa>gGa		Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.							125	129	128					1																	192547487		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192547487C>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.416C>G	1.37:g.192547487C>G	ENSP00000356429:p.Ala139Gly					RGS1_uc010pou.1_Missense_Mutation_p.A139G	p.A139G	NM_002922	NP_002913	Q08116	RGS1_HUMAN			3	482	+		Breast(1374;0.188)	139			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.416C>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	7.601	0.672794	0.14776	.	.	ENSG00000090104	ENST00000367459	T	0.02050	4.48	5.91	3.06	0.35304	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.304323	0.31821	N	0.007001	T	0.02688	0.0081	L	0.36672	1.1	0.09310	N	1	B;B	0.31274	0.317;0.004	B;B	0.36567	0.228;0.026	T	0.40850	-0.9541	10	0.66056	D	0.02	.	6.903	0.24293	0.1825:0.6267:0.0:0.1908	.	139;139	Q08116-2;Q08116	.;RGS1_HUMAN	G	139	ENSP00000356429:A139G	ENSP00000356429:A139G	A	+	2	0	RGS1	190814110	0.947000	0.32204	0.710000	0.30468	0.838000	0.47535	1.615000	0.36922	0.140000	0.18849	-1.761000	0.00669	GCA		0.343	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		G	192547487	C	G	192547487	3	3	12	1	0	0	0	0	1	0	0	0	13292	710	25	5	430	5	RGS1	1	192547487	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	31504413	192547487	56703134	11	833											
SRD5A2	0	broad.mit.edu	37	chr2	31756490	31756490	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttcctgagctggcgcaaTatatagtcactatgaatgtt	10	13	10	8	1	1	2	1	2	0	0	2	2	2	2	1	2	1	4	1	2	6	6			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:31756490T>C	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							GCTGGCGCAATATATAGTCAC	0.433																																						uc002rnw.1																			0											c.(493-495)atA>atG		Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	Azelaic Acid(DB00548)|Dutasteride(DB01126)						52	55	54					2																	31756490		1872	4104	5976			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31756490T>C																													2.37:g.31756490T>C							p.I165M	NM_000348	NP_000339	P31213	S5A2_HUMAN			3	566	-	Acute lymphoblastic leukemia(172;0.155)		166						Missense_Mutation	SNP	ENST00000435713.1	37	c.495A>G																																																																																					0.433	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			C	31756490	T	C	31756490	1	2	12	0	1	0	0	0	0	0	0	0	15138	1396	49	4		4	SRD5A2	2	31756490	RNA	SNP	T	TCGA-06-0126-01A-01D-1490-08		31756490	211442883	12	834											
TTN	7273	broad.mit.edu	37	chr2	179452825	179452825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgctatttttggtctCatttccacaacatatccaat	10	16	4	11	0	2	0	1	0	2	0	5	0	4	0	2	1	2	2	2	1	4	5	rs538999642		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:179452825C>A	ENST00000591111.1	-	255	58610	c.58386G>T	c.(58384-58386)atG>atT	p.M19462I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M12230I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M21103I|TTN_ENST00000359218.5_Missense_Mutation_p.M12163I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M18535I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M12038I			Q8WZ42	TITIN_HUMAN	titin	19462	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGTCTCATTTCCACAA	0.453																																						uc021vsy.1																			0		p.G18534G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55603-55605)atG>atT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							97	93	94					2																	179452825		1989	4163	6152	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452825C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58386G>T	2.37:g.179452825C>A	ENSP00000465570:p.Met19462Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M12230I|TTN_uc021vta.1_Missense_Mutation_p.M12163I|TTN_uc021vtb.1_Missense_Mutation_p.M12038I	p.M18535I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55830	-			19462			Fibronectin type-III 34.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55605G>T		.	.	.	.	.	.	.	.	.	.	C	12.36	1.913389	0.33815	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40815	0.1132	L	0.27944	0.81	0.52501	D	0.999952	B;B;B;B	0.11235	0.0;0.0;0.0;0.004	B;B;B;B	0.12156	0.001;0.001;0.003;0.007	T	0.31052	-0.9957	9	0.87932	D	0	.	11.3558	0.49615	0.127:0.807:0.0:0.066	.	12038;12163;12230;19462	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	18535;12038;12230;12163;12036	ENSP00000343764:M18535I;ENSP00000434586:M12038I;ENSP00000340554:M12230I;ENSP00000352154:M12163I	ENSP00000340554:M12230I	M	-	3	0	TTN	179161071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.300000	0.33436	1.565000	0.49641	0.650000	0.86243	ATG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179452825	C	A	179452825	3	1	12	1	0	0	0	0	1	0	0	0	16732	826	29	5	44902	5	TTN	2	179452825	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	147696335	179452825	63746548	13	835											
CNTN4	152330	broad.mit.edu	37	chr3	3078881	3078881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcccagaactcattgatgGgaagacattcacagcgaccg	13	7	10	11	2	2	3	2	1	0	2	3	5	3	4	2	1	2	0	2	1	2	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:3078881G>T	ENST00000397461.1	+	17	2345	c.1961G>T	c.(1960-1962)gGg>gTg	p.G654V	CNTN4_ENST00000397459.2_Missense_Mutation_p.G326V|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.G326V|CNTN4_ENST00000427331.1_Missense_Mutation_p.G654V|CNTN4_ENST00000418658.1_Missense_Mutation_p.G654V|CNTN4_ENST00000358480.3_Missense_Mutation_p.G435V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	654	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCATTGATGGGAAGACATTC	0.483																																						uc003bpc.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1960-1962)gGg>gTg		Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.							136	136	136					3																	3078881		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078881G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1961G>T	3.37:g.3078881G>T	ENSP00000380602:p.Gly654Val					CNTN4_uc003bpb.1_Missense_Mutation_p.G325V|CNTN4_uc021wsg.1_Missense_Mutation_p.G654V|CNTN4_uc003bpd.1_Missense_Mutation_p.G654V|CNTN4_uc003bpe.3_Missense_Mutation_p.G326V|CNTN4_uc003bpf.3_Missense_Mutation_p.G325V|CNTN4_uc003bpg.3_5'Flank	p.G654V	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2300	+		Ovarian(110;0.156)	654			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1961G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758061	0.89843	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.83588	0.0121	10	0.49607	T	0.09	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	653;654;654	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	654;654;654;435;326;326	ENSP00000396010:G654V;ENSP00000380602:G654V;ENSP00000413642:G654V;ENSP00000351267:G435V;ENSP00000380600:G326V;ENSP00000392077:G326V	ENSP00000351267:G435V	G	+	2	0	CNTN4	3053881	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.640000	0.98453	2.572000	0.86782	0.655000	0.94253	GGG		0.483	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			T	3078881	G	T	3078881	3	4	12	1	0	0	0	0	1	0	0	0	3643	1232	43	5	2019	5	CNTN4	3	3078881	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		3078881	194943549	14	836											
ABCC5	10057	broad.mit.edu	37	chr3	183665250	183665250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccaccgcatcgcacaCgtaaacaaaaaaaaaggagc	18	2	8	13	3	0	0	0	0	0	0	1	1	0	1	3	1	3	3	3	1	6	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:183665250C>T	ENST00000334444.6	-	23	3516	c.3276G>A	c.(3274-3276)acG>acA	p.T1092T	ABCC5_ENST00000265586.6_Silent_p.T1049T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1092	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCATCGCACACGTAAACAAAA	0.532																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3274-3276)acG>acA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.							52	63	59					3																	183665250		2007	4178	6185	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665250C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3276G>A	3.37:g.183665250C>T						ABCC5_uc011bqt.2_Silent_p.T620T|ABCC5_uc010hxl.3_Silent_p.T1049T	p.T1092T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3441	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1092			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3276G>A	CCDS43176.1																																																																																				0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		T	183665250	C	T	183665250	2	4	12	1	0	0	0	0	0	0	0	1	56	523	19	1		1	ABCC5	3	183665250	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	180586369	183665250	14357180	15	837											
ADRA2C	152	broad.mit.edu	37	chr4	3768581	3768581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccagccgggcgctgcGcgcgccacagaacctcttcc	6	5	12	18	5	1	2	0	1	1	1	2	2	2	2	5	1	3	2	5	1	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:3768581G>A	ENST00000330055.5	+	1	457	c.248G>A	c.(247-249)cGc>cAc	p.R83H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R83H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	83					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGGCGCTGCGCGCGCCACAG	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(247-249)cGc>cAc		Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						25	27	26					4																	3768581		2191	4296	6487	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768581G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.248G>A	4.37:g.3768581G>A	ENSP00000386069:p.Arg83His						p.R83H	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	286	+			83					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.248G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	g	17.59	3.428312	0.62844	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.38560	1.13;1.13	3.16	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49881	0.1583	L	0.41356	1.27	0.33183	D	0.549749	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.59247	-0.7490	9	0.87932	D	0	.	6.5501	0.22429	0.2588:0.0:0.7412:0.0	.	83;83	D6RGL0;P18825	.;ADA2C_HUMAN	H	83	ENSP00000426268:R83H;ENSP00000386069:R83H	ENSP00000386069:R83H	R	+	2	0	ADRA2C	3738379	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.974000	0.40559	1.596000	0.50062	0.457000	0.33378	CGC		0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		A	3768581	G	A	3768581	3	1	12	1	0	0	0	0	1	0	0	0	339	1087	38	1	250	1	ADRA2C	4	3768581	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		3768581	187385695	16	838											
UGT2B28	54490	broad.mit.edu	37	chr4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgccaaacccctacCtaaggtaaacatactttcgt	14	9	4	14	1	0	0	0	0	0	0	1	0	0	0	5	1	6	1	5	1	7	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:70148376C>A	ENST00000335568.5	+	2	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P289H	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	289					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAACCCCTACCTAAGGTAAAC	0.383																																						uc003hej.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(865-867)cCt>cAt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						103	127	119					4																	70148376		2027	4232	6259	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70148376C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.866C>A	4.37:g.70148376C>A	ENSP00000334276:p.Pro289His					UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	868	+			289					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.866C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	12.86	2.064521	0.36470	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.66815	-0.23;-0.23	2.18	2.18	0.27775	.	0.075448	0.53938	U	0.000051	D	0.85961	0.5819	H	0.97682	4.055	0.32286	N	0.566911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.88058	0.2792	10	0.87932	D	0	.	10.0404	0.42155	0.0:1.0:0.0:0.0	.	289;289	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	H	289	ENSP00000334276:P289H;ENSP00000427399:P289H	ENSP00000334276:P289H	P	+	2	0	UGT2B28	70182965	1.000000	0.71417	0.934000	0.37439	0.321000	0.28281	4.909000	0.63314	1.229000	0.43630	0.184000	0.17185	CCT		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		A	70148376	C	A	70148376	3	1	12	1	0	0	0	0	1	0	0	0	16957	681	24	5	872	5	UGT2B28	4	70148376	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	66379795	70148376	121005900	17	839											
FGB	2244	broad.mit.edu	37	chr4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggcatgttcttcagcaCgtatgacagagacaatgacg	13	8	10	10	3	2	3	1	2	1	1	2	4	2	3	0	1	2	4	0	1	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000509493.1_Missense_Mutation_p.T188M|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1219-1221)aCg>aTg		Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	Sucralfate(DB00364)						155	131	139					4																	155490927		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490927C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1220C>T	4.37:g.155490927C>T	ENSP00000306099:p.Thr407Met					FGB_uc010ipv.3_Missense_Mutation_p.T348M	p.T407M	NM_005141	NP_005132	P02675	FIBB_HUMAN			6	1259	+	all_hematologic(180;0.215)	Renal(120;0.0458)	407			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1220C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542898	0.86022	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.91237	-2.81;-2.81	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98559	1.0640	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	390;407	B4E1D3;P02675	.;FIBB_HUMAN	M	407;390;188	ENSP00000306099:T407M;ENSP00000426757:T188M	ENSP00000306099:T407M	T	+	2	0	FGB	155710377	1.000000	0.71417	0.970000	0.41538	0.611000	0.37282	7.744000	0.85034	2.861000	0.98227	0.655000	0.94253	ACG		0.423	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155490927	C	T	155490927	3	4	12	1	0	0	0	0	1	0	0	0	5831	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	85342551	155490927	35663349	18	840											
GRIA2	2891	broad.mit.edu	37	chr4	158234012	158234012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaagggataaagtaaaCgacattgtagaccaggtttg	15	10	12	4	1	0	2	0	1	0	1	0	4	0	3	1	2	1	3	1	2	6	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:158234012C>T	ENST00000264426.9	+	4	930	c.651C>T	c.(649-651)aaC>aaT	p.N217N	GRIA2_ENST00000507898.1_Silent_p.N170N|GRIA2_ENST00000393815.2_Silent_p.N170N|GRIA2_ENST00000449365.1_Silent_p.N170N|GRIA2_ENST00000296526.7_Silent_p.N217N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	217					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.N217N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATAAAGTAAACGACATTGTAG	0.373																																						uc003ipm.4																			1	Substitution - coding silent(1)	p.N217N(2)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(649-651)aaC>aaT		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						103	107	106					4																	158234012		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158234012C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.651C>T	4.37:g.158234012C>T						GRIA2_uc011cit.2_Silent_p.N170N|GRIA2_uc021xtr.1_Silent_p.N217N|GRIA2_uc003ipl.4_Silent_p.N217N|GRIA2_uc003ipk.4_Silent_p.N170N|GRIA2_uc010iqh.1_Non-coding_Transcript	p.N217N	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	1110	+	all_hematologic(180;0.24)	Renal(120;0.0458)	217					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.651C>T	CCDS43274.1																																																																																				0.373	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			T	158234012	C	T	158234012	2	4	12	1	0	0	0	0	0	0	0	1	6768	535	19	1		1	GRIA2	4	158234012	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	2743085	158234012	32920264	19	841											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251077	160251077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaagaacatgcaaaaagTtgaagaggaaggagagattg	21	5	13	2	0	0	5	0	1	0	4	0	8	0	7	0	2	2	2	0	2	7	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:160251077T>G	ENST00000264431.4	+	6	1153	c.734T>G	c.(733-735)gTt>gGt	p.V245G		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	245					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCAAAAAGTTGAAGAGGAA	0.398																																						uc003iqg.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(733-735)gTt>gGt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.							136	123	127					4																	160251077		1892	4134	6026	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251077T>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.734T>G	4.37:g.160251077T>G	ENSP00000264431:p.Val245Gly						p.V245G	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	5	1044	+	all_hematologic(180;0.24)		245					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.734T>G	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.909880	0.92107	.	.	ENSG00000109756	ENST00000264431	T	0.32023	1.47	5.73	5.73	0.89815	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.56001	-0.8051	10	0.72032	D	0.01	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	245	Q9Y4G8	RPGF2_HUMAN	G	245	ENSP00000264431:V245G	ENSP00000264431:V245G	V	+	2	0	RAPGEF2	160470527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	GTT		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		G	160251077	T	G	160251077	3	3	12	1	0	0	0	0	1	0	0	0	13044	1725	60	5	756	5	RAPGEF2	4	160251077	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	2017065	160251077	30903199	20	842											
SORBS2	8470	broad.mit.edu	37	chr4	186545050	186545050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaattcggagatgcgtgtGggcaccatgtcccggggcac	7	8	15	11	4	0	1	0	0	0	1	3	3	1	1	2	4	1	2	2	4	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:186545050G>A	ENST00000284776.7	-	13	2030	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.P607P|SORBS2_ENST00000431808.1_Silent_p.P507P|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Silent_p.P411P	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	507					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATGCGTGTGGGCACCATGT	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyg.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1861-1863)ccC>ccT		Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.							102	92	95					4																	186545050		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545050G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1521C>T	4.37:g.186545050G>A						SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.P607P|SORBS2_uc003iyl.3_Silent_p.P507P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.P411P|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	p.P621P	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	12	1895	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	507					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1863C>T	CCDS3845.1																																																																																				0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		A	186545050	G	A	186545050	2	1	12	1	0	0	0	0	0	0	0	1	14928	1335	47	3		3	SORBS2	4	186545050	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	26293973	186545050	4609226	21	843											
DNAH5	1767	broad.mit.edu	37	chr5	13916467	13916467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacttacctttacaaacAgagatgtgatcttctcagag	13	12	7	9	0	2	3	1	1	2	2	3	4	2	3	1	0	4	1	1	0	3	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:13916467A>G	ENST00000265104.4	-	9	1291	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	396	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTACAAACAGAGATGTGAT	0.323									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(1186-1188)cTg>cCg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							82	83	83					5																	13916467		2201	4290	6491	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13916467A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1187T>C	5.37:g.13916467A>G	ENSP00000265104:p.Leu396Pro					DNAH5_uc003jfe.1_Non-coding_Transcript	p.L396P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			8	1229	-	Lung NSC(4;0.00476)		396			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1187T>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060382	0.76074	.	.	ENSG00000039139	ENST00000265104	T	0.75477	-0.94	5.04	5.04	0.67666	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000002	D	0.89079	0.6613	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91836	0.5479	10	0.87932	D	0	.	15.0865	0.72158	1.0:0.0:0.0:0.0	.	396	Q8TE73	DYH5_HUMAN	P	396	ENSP00000265104:L396P	ENSP00000265104:L396P	L	-	2	0	DNAH5	13969467	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	9.071000	0.93980	2.017000	0.59298	0.528000	0.53228	CTG		0.323	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		G	13916467	A	G	13916467	3	3	12	1	0	0	0	0	1	0	0	0	4604	188	7	4	12971	4	DNAH5	5	13916467	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		13916467	166998793	22	844											
HEATR7B2	133558	broad.mit.edu	37	chr5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgcaggtaccacaaaaGtcaggatccttggccatagc	12	9	9	11	0	2	0	1	0	1	0	3	1	3	1	3	3	3	2	3	3	4	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:41049516G>T	ENST00000399564.4	-	14	1817	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	MROH2B_ENST00000506092.2_Missense_Mutation_p.T11N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	456								p.T456N(2)									TACCACAAAAGTCAGGATCCT	0.458																																						uc003jmj.4																			2	Substitution - Missense(2)	p.T456N(4)	ovary(1)|large_intestine(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1366-1368)aCt>aAt		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							63	59	60					5																	41049516		1898	4125	6023	SO:0001583	missense	133558						binding	g.chr5:41049516G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1367C>A	5.37:g.41049516G>T	ENSP00000382476:p.Thr456Asn					HEATR7B2_uc003jmi.4_Missense_Mutation_p.T11N	p.T456N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			13	1857	-			456					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1367C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174440	0.38413	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66995	3.19;-0.24	5.7	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.46758	D	0.000276	T	0.72542	0.3473	L	0.54323	1.7	0.33885	D	0.636657	D	0.76494	0.999	D	0.69479	0.964	T	0.73033	-0.4110	10	0.18710	T	0.47	.	9.6167	0.39696	0.0921:0.0:0.9079:0.0	.	456	Q7Z745	HTRB2_HUMAN	N	11;160;456	ENSP00000441504:T11N;ENSP00000382476:T456N	ENSP00000296803:T160N	T	-	2	0	HEATR7B2	41085273	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.269000	0.33074	2.705000	0.92388	0.650000	0.86243	ACT		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41049516	G	T	41049516	3	4	12	1	0	0	0	0	1	0	0	0	7035	1029	36	5	3506	5	HEATR7B2	5	41049516	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	27133049	41049516	139865744	23	845											
OR2Y1	134083	broad.mit.edu	37	chr5	180166818	180166818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaaaggttgatcaggaGctggggcacggtgctggtgg	7	7	18	9	2	1	1	1	1	0	0	1	2	1	2	1	7	2	5	1	7	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:180166818G>A	ENST00000307832.2	-	1	281	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATCAGGAGCTGGGGCACG	0.587																																						uc003mmf.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(241-243)Ctc>Ttc		Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.							75	70	72					5																	180166818		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166818G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.241C>T	5.37:g.180166818G>A	ENSP00000312403:p.Leu81Phe						p.L81F	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		0	241	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	81					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.241C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.371298	0.24771	.	.	ENSG00000174339	ENST00000307832	T	0.03468	3.92	4.41	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.696719	0.12410	N	0.471302	T	0.14743	0.0356	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06197	-1.0840	10	0.56958	D	0.05	.	10.4572	0.44557	0.0:0.0:0.4858:0.5142	.	81	Q8NGV0	OR2Y1_HUMAN	F	81	ENSP00000312403:L81F	ENSP00000312403:L81F	L	-	1	0	OR2Y1	180099424	0.062000	0.20869	0.717000	0.30585	0.004000	0.04260	0.236000	0.17967	0.563000	0.29222	-0.428000	0.05917	CTC		0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		A	180166818	G	A	180166818	3	1	12	1	0	0	0	0	1	0	0	0	11035	971	34	3	698	3	OR2Y1	5	180166818	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	139117302	180166818	748442	24	846											
SNRNP48	154007	broad.mit.edu	37	chr6	7602909	7602909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctggcagaagtacgaGattataaaagaagacgccag	18	6	10	7	2	0	4	0	0	0	4	1	5	1	4	2	1	1	2	2	1	7	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:7602909G>T	ENST00000342415.5	+	6	708	c.649G>T	c.(649-651)Gat>Tat	p.D217Y		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	217					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGTACGAGATTATAAAAG	0.308																																						uc003mxr.3																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(649-651)Gat>Tat		Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.							69	74	73					6																	7602909		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7602909G>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.649G>T	6.37:g.7602909G>T	ENSP00000339834:p.Asp217Tyr					SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_5'UTR	p.D217Y	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN			5	708	+			217					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.649G>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225976	0.79576	.	.	ENSG00000168566	ENST00000342415	T	0.61980	0.06	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.83223	2.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.80712	-0.1260	10	0.87932	D	0	-22.6992	15.1567	0.72749	0.0:0.0:1.0:0.0	.	217	Q6IEG0	SNR48_HUMAN	Y	217	ENSP00000339834:D217Y	ENSP00000339834:D217Y	D	+	1	0	SNRNP48	7547908	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.780000	0.91799	2.419000	0.82065	0.563000	0.77884	GAT		0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		T	7602909	G	T	7602909	3	4	12	1	0	0	0	0	1	0	0	0	14857	942	33	5	671	5	SNRNP48	6	7602909	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		7602909	163512158	25	847											
LGSN	51557	broad.mit.edu	37	chr6	63990671	63990671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttccatctgaccaggcCtggtagaggaggaaaaactc	13	8	11	9	0	1	3	0	1	1	2	3	5	2	5	3	4	1	1	3	4	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:63990671C>T	ENST00000370657.4	-	4	818	c.785G>A	c.(784-786)aGg>aAg	p.R262K	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	262					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGACCAGGCCTGGTAGAGGA	0.433																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(784-786)aGg>aAg		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						46	41	42					6																	63990671		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990671C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.785G>A	6.37:g.63990671C>T	ENSP00000359691:p.Arg262Lys					LGSN_uc003pei.3_Intron	p.R262K	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	819	-			262					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.785G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448722	0.63178	.	.	ENSG00000146166	ENST00000370657	D	0.85556	-2.0	5.17	4.29	0.51040	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.179206	0.64402	N	0.000010	T	0.74504	0.3725	L	0.36672	1.1	0.80722	D	1	P	0.39665	0.682	P	0.45856	0.495	T	0.78155	-0.2314	10	0.72032	D	0.01	-17.938	8.7812	0.34792	0.0:0.7686:0.1508:0.0806	.	262	Q5TDP6	LGSN_HUMAN	K	262	ENSP00000359691:R262K	ENSP00000359691:R262K	R	-	2	0	LGSN	64048630	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.726000	0.54977	1.291000	0.44653	0.650000	0.86243	AGG		0.433	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		T	63990671	C	T	63990671	3	4	12	1	0	0	0	0	1	0	0	0	8759	681	24	3	748	3	LGSN	6	63990671	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	56387762	63990671	107124396	26	848											
C6orf97	80129	broad.mit.edu	37	chr6	151914390	151914390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtcattgagaacaagaCcattgcccacaatttgcaga	14	9	8	10	0	1	3	1	1	0	3	1	4	1	3	2	0	4	2	2	0	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:151914390C>T	ENST00000239374.7	+	8	1541	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	CCDC170_ENST00000367290.5_Missense_Mutation_p.T481I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	481																	GAGAACAAGACCATTGCCCAC	0.423																																						uc003qol.3																			0											c.(1441-1443)aCc>aTc		Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.							80	76	77					6																	151914390		1911	4115	6026	SO:0001583	missense	80129							g.chr6:151914390C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1442C>T	6.37:g.151914390C>T	ENSP00000239374:p.Thr481Ile						p.T481I	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN			7	1531	+			481					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1442C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896360	0.72639	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10382	2.88;2.88	5.87	5.87	0.94306	.	0.053590	0.64402	D	0.000001	T	0.24812	0.0602	M	0.79805	2.47	0.53005	D	0.999969	D	0.76494	0.999	D	0.67231	0.95	T	0.00294	-1.1840	10	0.40728	T	0.16	-10.6147	14.7159	0.69269	0.0:0.931:0.0:0.069	.	481	Q8IYT3	CF097_HUMAN	I	481	ENSP00000239374:T481I;ENSP00000356259:T481I	ENSP00000239374:T481I	T	+	2	0	C6orf97	151956083	0.997000	0.39634	0.969000	0.41365	0.796000	0.44982	3.686000	0.54685	2.941000	0.99782	0.655000	0.94253	ACC		0.423	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		T	151914390	C	T	151914390	3	4	12	1	0	0	0	0	1	0	0	0	2374	507	18	3	1472	3	C6orf97	6	151914390	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	87923719	151914390	19200677	27	849											
KLHL7	55975	broad.mit.edu	37	chr7	23163411	23163411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagaaaacgttgtgtgacGtgatcctcatggtccaggaa	12	11	11	7	2	1	3	1	2	0	1	3	4	3	4	2	2	1	1	2	2	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:23163411G>A	ENST00000339077.5	+	2	379	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	KLHL7_ENST00000322231.7_Missense_Mutation_p.V24M|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.V24M|KLHL7_ENST00000410047.1_Missense_Mutation_p.V24M|KLHL7_ENST00000409689.1_5'UTR|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000545771.1_Missense_Mutation_p.V24M|KLHL7_ENST00000322275.5_Missense_Mutation_p.V46M	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGTGACGTGATCCTCAT	0.373																																						uc003svs.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(136-138)Gtg>Atg		Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.							133	119	123					7																	23163411		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23163411G>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.136G>A	7.37:g.23163411G>A	ENSP00000343273:p.Val46Met					KLHL7_uc003svr.4_Missense_Mutation_p.V24M|KLHL7_uc011jys.2_Intron|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_5'UTR|KLHL7_uc003svp.3_Missense_Mutation_p.V24M|KLHL7_uc003svq.3_Missense_Mutation_p.V46M|KLHL7_uc011jyu.2_Missense_Mutation_p.V24M	p.V46M	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN			1	429	+			46			BTB.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.136G>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764842	0.90020	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000322275;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.46	5.46	0.80206	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91061	0.7187	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.993;0.998;0.998	D	0.92466	0.5981	10	0.87932	D	0	.	19.6805	0.95960	0.0:0.0:1.0:0.0	.	24;46;24;46;24	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	M	46;46;24;46;46;24;24;24	ENSP00000322958:V24M;ENSP00000343273:V46M;ENSP00000323270:V46M;ENSP00000386999:V24M;ENSP00000446445:V24M;ENSP00000442366:V24M	ENSP00000322958:V24M	V	+	1	0	KLHL7	23129936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.829000	0.92055	2.724000	0.93272	0.563000	0.77884	GTG		0.373	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		A	23163411	G	A	23163411	3	1	12	1	0	0	0	0	1	0	0	0	8394	1145	40	1	142	1	KLHL7	7	23163411	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		23163411	135975252	28	850											
MRPL32	64983	broad.mit.edu	37	chr7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcgaccatcctggttcaCccagaattgacaccaaagat	15	7	7	12	1	1	3	1	1	0	2	2	4	2	3	4	1	1	1	4	1	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:42977165C>T	ENST00000223324.2	+	3	744	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	186					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418																																						uc003tia.3																			0		p.F185F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(556-558)aCc>aTc		Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.							60	56	58					7																	42977165		2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42977165C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.557C>T	7.37:g.42977165C>T	ENSP00000223324:p.Thr186Ile					MRPL32_uc003tib.3_Non-coding_Transcript	p.T186I	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			2	604	+			186					Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.557C>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896256	0.52121	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.62	4.74	0.60224	.	0.387744	0.33650	N	0.004684	T	0.38054	0.1026	L	0.35341	1.055	0.35732	D	0.818	P	0.35527	0.507	B	0.28465	0.09	T	0.52480	-0.8570	9	0.45353	T	0.12	-18.1904	12.1394	0.53989	0.0:0.863:0.0:0.137	.	186	Q9BYC8	RM32_HUMAN	I	186	.	ENSP00000223324:T186I	T	+	2	0	MRPL32	42943690	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.614000	0.46359	2.644000	0.89710	0.561000	0.74099	ACC		0.418	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		T	42977165	C	T	42977165	3	4	12	1	0	0	0	0	1	0	0	0	9795	507	18	3	567	3	MRPL32	7	42977165	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	19813754	42977165	116161498	29	851											
WBSCR17	64409	broad.mit.edu	37	chr7	70886068	70886068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagactggtgggacgcCggagacccttctctccccat	9	7	10	15	2	1	2	0	0	1	2	3	4	2	3	5	3	0	0	5	3	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:70886068C>T	ENST00000333538.5	+	5	1573	c.939C>T	c.(937-939)gcC>gcT	p.A313A	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGGGACGCCGGAGACCCTT	0.597																																						uc003tvy.3																			0		p.D312D(2)|p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(937-939)gcC>gcT		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							54	56	56					7																	70886068		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70886068C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.939C>T	7.37:g.70886068C>T						WBSCR17_uc003tvz.3_Silent_p.A12A	p.A313A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			4	939	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	313					Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.939C>T	CCDS5540.1																																																																																				0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		T	70886068	C	T	70886068	2	4	12	1	0	0	0	0	0	0	0	1	17261	639	23	2		2	WBSCR17	7	70886068	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	27908903	70886068	88252595	30	852											
GRM3	2913	broad.mit.edu	37	chr7	86468552	86468552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacatcaggtgggaagaCgcctgggccattggcccagt	9	7	14	11	1	1	1	1	0	0	1	1	3	1	2	3	4	1	0	3	4	2	2	rs372193050		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:86468552C>T	ENST00000361669.2	+	4	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000546348.1_Silent_p.D166D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	574					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGTGGGAAGACGCCTGGGCCA	0.498																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0		p.E573K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1720-1722)gaC>gaT		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)	C		1,4405	2.1+/-5.4	0,1,2202	102	98	100		1722	-3	1	7		100	0,8600		0,0,4300	no	coding-synonymous	GRM3	NM_000840.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		574/880	86468552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468552C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1722C>T	7.37:g.86468552C>T						GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.D446D|GRM3_uc010leh.3_Silent_p.D166D	p.D574D	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2821	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		574					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1722C>T	CCDS5600.1																																																																																				0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86468552	C	T	86468552	2	4	12	1	0	0	0	0	0	0	0	1	6798	535	19	1		1	GRM3	7	86468552	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	15582484	86468552	72670111	31	853											
COL1A2	1278	broad.mit.edu	37	chr7	94054953	94054953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgatggtcccccaggtcGcgatggtcaacccggacaca	10	5	12	14	4	1	0	1	0	0	0	3	4	2	1	3	4	2	0	3	4	2	0			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:94054953G>A	ENST00000297268.6	+	43	3284	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R938H(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCCAGGTCGCGATGGTCAA	0.488										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	2	Substitution - Missense(2)	p.R938H(4)|p.G937S(1)	large_intestine(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2812-2814)cGc>cAc		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						107	97	101					7																	94054953		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054953G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2813G>A	7.37:g.94054953G>A	ENSP00000297268:p.Arg938His	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.R938H	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		42	3284	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		938					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2813G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677284	0.88445	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94280	-3.39	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95785	0.8820	10	0.72032	D	0.01	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	938	P08123	CO1A2_HUMAN	H	938;939	ENSP00000297268:R938H	ENSP00000297268:R938H	R	+	2	0	COL1A2	93892889	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGC		0.488	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94054953	G	A	94054953	3	1	12	1	0	0	0	0	1	0	0	0	3678	1087	38	1	2983	1	COL1A2	7	94054953	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	7586401	94054953	65083710	32	854											
FZD6	8323	broad.mit.edu	37	chr8	104342147	104342147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagagaggtgaaagcGgacggagctagcacccccag	13	4	14	10	2	1	3	1	2	0	1	1	6	1	5	2	3	3	2	2	3	3	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:104342147G>A	ENST00000358755.4	+	6	2123	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FZD6_ENST00000540287.1_Silent_p.A297A|FZD6_ENST00000522566.1_Silent_p.A602A|FZD6_ENST00000523739.1_Silent_p.A570A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	602					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGGTGAAAGCGGACGGAGCTA	0.512																																						uc003ylh.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1804-1806)gcG>gcA		Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.							88	71	76					8																	104342147		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104342147G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1806G>A	8.37:g.104342147G>A						FZD6_uc011lhn.2_Silent_p.A570A|FZD6_uc003ylj.3_Silent_p.A602A|FZD6_uc011lho.2_Silent_p.A297A|FZD6_uc011lhp.2_Silent_p.A547A	p.A602A	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	2096	+			602					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1806G>A	CCDS6298.1																																																																																				0.512	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		A	104342147	G	A	104342147	2	1	12	1	0	0	0	0	0	0	0	1	6134	1103	39	2		2	FZD6	8	104342147	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08		104342147	42021875	33	855											
C8orf76	84933	broad.mit.edu	37	chr8	124243741	124243743	+	In_Frame_Del	DEL	AAG	AAG	-																															agtcttttcctgagtgtggaAagaaggatttgatagttttg																										TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:124243741_124243743delAAG	ENST00000276704.4	-	4	663_665	c.612_614delCTT	c.(610-615)ttcttt>ttt	p.204_205FF>F	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_In_Frame_Del_p.172_173FF>F	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	204										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGTGTGGAAAGAAGGATTTGA	0.433																																						uc003yqc.2																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(610-615)ttcttt>ttt		Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.																																				SO:0001651	inframe_deletion	84933						binding	g.chr8:124243741_124243743delAAG	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.612_614delCTT	8.37:g.124243744_124243746delAAG	ENSP00000276704:p.Phe205del					C8orf76_uc003yqd.3_In_Frame_Del_p.172_173FF>F	p.204_205FF>F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	664_666	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		204					Q53HC1	In_Frame_Del	DEL	ENST00000276704.4	37	c.612_614delCTT	CCDS6341.1																																																																																				0.433	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		-	124243743	AAG	-	124243741	7	5	12	1	0	1	0	1	0	0	0	0	2437	14	1	0	540	0	C8orf76	8	124243741	In_Frame_Del	DEL	AAG	TCGA-06-0126-01A-01D-1490-08	19901594	124243741	22120281	34	856											
EPPK1	83481	broad.mit.edu	37	chr8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgtcgaagtagccgCgccggtaggccacgtccacg	6	7	12	16	7	1	0	0	0	1	0	5	1	2	0	5	2	1	2	5	2	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692																																						uc003zaa.1																			0		p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7093-7095)cGc>cAc		Homo sapiens epiplakin 1 (EPPK1), mRNA.							222	214	217					8																	144940328		2180	4267	6447	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940328C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7094G>A	8.37:g.144940328C>T	ENSP00000436337:p.Arg2365His						p.R2365H	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	7107	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2365					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7094G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.972835	0.92919	.	.	ENSG00000227184	ENST00000525985	T	0.79247	-1.25	4.43	3.55	0.40652	.	.	.	.	.	D	0.89083	0.6614	M	0.92412	3.305	0.39114	D	0.961524	D	0.89917	1.0	D	0.97110	1.0	D	0.89917	0.4056	9	0.45353	T	0.12	.	10.4455	0.44490	0.0:0.9039:0.0:0.0961	.	2365	E9PPU0	.	H	2365	ENSP00000436337:R2365H	ENSP00000436337:R2365H	R	-	2	0	EPPK1	145012316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.732000	0.62029	1.215000	0.43411	0.591000	0.81541	CGC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940328	C	T	144940328	3	4	12	1	0	0	0	0	1	0	0	0	5190	768	27	1	172	1	EPPK1	8	144940328	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	20696587	144940328	1423694	35	857											
TEK	7010	broad.mit.edu	37	chr9	27158007	27158007	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggaagttactcaagaTgtgaccagagaatgggctaa	13	8	12	8	1	1	3	1	1	0	2	1	5	1	4	2	2	1	3	2	2	5	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:27158007T>A	ENST00000380036.4	+	2	673	c.231T>A	c.(229-231)gaT>gaA	p.D77E	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.D77E	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	77	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D77E(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTACTCAAGATGTGACCAGAG	0.493																																						uc011lno.2																			1	Substitution - Missense(1)	p.D77E(2)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(229-231)gaT>gaA		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							92	93	93					9																	27158007		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27158007T>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.231T>A	9.37:g.27158007T>A	ENSP00000369375:p.Asp77Glu					TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc003zqi.4_Missense_Mutation_p.D77E|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	p.D77E	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	1	673	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	77			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.231T>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660332	0.67586	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.72725	-0.64;-0.68	5.92	4.79	0.61399	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000065	T	0.69269	0.3092	N	0.24115	0.695	0.38147	D	0.938632	B;D;D;P	0.57571	0.097;0.98;0.979;0.944	B;P;P;P	0.58721	0.108;0.844;0.683;0.692	T	0.73933	-0.3826	10	0.66056	D	0.02	.	10.4406	0.44464	0.0:0.1345:0.0:0.8655	.	110;77;77;77	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	E	77	ENSP00000369375:D77E;ENSP00000383977:D77E	ENSP00000343716:D77E	D	+	3	2	TEK	27148007	0.544000	0.26441	0.998000	0.56505	0.997000	0.91878	0.393000	0.20817	1.079000	0.41038	0.533000	0.62120	GAT		0.493	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			A	27158007	T	A	27158007	3	1	12	1	0	0	0	0	1	0	0	0	15748	1461	51	5	237	5	TEK	9	27158007	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08		27158007	114055424	36	858											
TGFBR1	7046	broad.mit.edu	37	chr9	101908855	101908855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatctatgcaatgggcttaGtattctgggaaattgctcga	11	13	10	7	1	2	0	0	0	2	0	3	2	2	1	0	2	2	4	0	2	5	5	rs146549837		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:101908855G>A	ENST00000374994.4	+	7	1336	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I	TGFBR1_ENST00000550253.1_Missense_Mutation_p.V338I|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000552516.1_Missense_Mutation_p.V411I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.V330I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATGGGCTTAGTATTCTGGGA	0.398																																						uc004azc.3																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(1219-1221)Gta>Ata		Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.							285	284	284					9																	101908855		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101908855G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1219G>A	9.37:g.101908855G>A	ENSP00000364133:p.Val407Ile					TGFBR1_uc004azd.3_Missense_Mutation_p.V330I|TGFBR1_uc004aze.3_Missense_Mutation_p.V411I|TGFBR1_uc011lvc.2_Missense_Mutation_p.V338I|5S_rRNA_uc022bkv.1_5'Flank	p.V407I	NM_004612	NP_004603	P36897	TGFR1_HUMAN			6	1295	+		Acute lymphoblastic leukemia(62;0.0559)	407			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1219G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433002	0.62844	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.41961	1.31	0.80722	D	1	B;P	0.49783	0.03;0.928	B;P	0.49853	0.039;0.624	T	0.60934	-0.7164	10	0.31617	T	0.26	.	18.167	0.89731	0.0:0.0:1.0:0.0	.	330;407	P36897-3;P36897	.;TGFR1_HUMAN	I	407;369;330;411;338	ENSP00000364133:V407I;ENSP00000364129:V330I;ENSP00000447297:V411I;ENSP00000450052:V338I	ENSP00000364129:V330I	V	+	1	0	TGFBR1	100948676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.651000	0.90000	0.467000	0.42956	GTA		0.398	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			A	101908855	G	A	101908855	3	1	12	1	0	0	0	0	1	0	0	0	15818	1029	36	3	1245	3	TGFBR1	9	101908855	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	74750848	101908855	39304576	37	859											
ORM2	5005	broad.mit.edu	37	chr9	117092750	117092750	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatcgcatcggcctttCgaaacgaggagtacaataag	13	11	9	8	4	0	0	0	0	0	0	3	3	0	1	1	2	2	2	1	2	6	6			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:117092750C>A	ENST00000431067.2	+	2	187	c.151C>A	c.(151-153)Cga>Aga	p.R51R	ORM2_ENST00000412657.1_Nonsense_Mutation_p.S189*	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	51					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	ATCGGCCTTTCGAAACGAGGA	0.498																																					NSCLC(65;867 1308 1814 2391 12508)	uc004bil.3																			0				endometrium(2)|large_intestine(4)|lung(2)	8						c.(151-153)Cga>Aga		Homo sapiens orosomucoid 2 (ORM2), mRNA.	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						39	55	49					9																	117092750		2195	4296	6491	SO:0001819	synonymous_variant	5005				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117092750C>A		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.151C>A	9.37:g.117092750C>A						ORM1_uc011lxo.2_Intron	p.R51R	NM_000608	NP_000599	P02763	A1AG1_HUMAN			1	267	+		Myeloproliferative disorder(63;0.163)	51					B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	c.151C>A	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	-	14.54	2.564679	0.45694	.	.	ENSG00000228278	ENST00000412657	.	.	.	3.11	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.25259	A	0.010382	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5415	8.2346	0.31618	0.0:0.754:0.246:0.0	.	.	.	.	X	189	.	ENSP00000407099:S189X	S	+	2	0	ORM2	116132571	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.580000	0.23803	0.875000	0.35847	0.494000	0.49563	TCG		0.498	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		A	117092750	C	A	117092750	2	1	12	1	0	0	0	0	0	0	0	1	11268	876	31	5		5	ORM2	9	117092750	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	15183895	117092750	24120681	38	860											
THNSL1	79896	broad.mit.edu	37	chr10	25313145	25313145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaaattgctcctgtcagGcacctttcaggcaaccagtt	11	11	7	12	0	3	0	3	0	0	0	4	0	4	0	3	2	2	4	3	2	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:25313145G>A	ENST00000524413.1	+	3	1340	c.993G>A	c.(991-993)agG>agA	p.R331R	THNSL1_ENST00000376356.4_Silent_p.R331R			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	331						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	CTCCTGTCAGGCACCTTTCAG	0.433																																						uc001isi.4																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(991-993)agG>agA		Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						86	77	80					10																	25313145		2203	4300	6503	SO:0001819	synonymous_variant	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313145G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.993G>A	10.37:g.25313145G>A						ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.R331R	p.R331R	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			2	1322	+			331					B3KWL1|D3DRV3|Q5VV21	Silent	SNP	ENST00000524413.1	37	c.993G>A	CCDS7147.1																																																																																				0.433	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		A	25313145	G	A	25313145	2	1	12	1	0	0	0	0	0	0	0	1	15859	1194	42	3		3	THNSL1	10	25313145	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08		25313145	110221602	39	861											
CNNM2	54805	broad.mit.edu	37	chr10	104836896	104836896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaactgtgtgacgcacAgtaaggccaaccacagcctg	14	5	10	12	1	0	2	0	1	0	1	0	2	0	2	3	1	4	2	3	1	4	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:104836896A>T	ENST00000369878.4	+	8	2775	c.2587A>T	c.(2587-2589)Agt>Tgt	p.S863C	CNNM2_ENST00000433628.2_Missense_Mutation_p.S841C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	863					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTGACGCACAGTAAGGCCAA	0.617																																						uc001kwm.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2587-2589)Agt>Tgt		Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.							83	90	88					10																	104836896		2136	4235	6371	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836896A>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2587A>T	10.37:g.104836896A>T	ENSP00000358894:p.Ser863Cys					CNNM2_uc001kwn.3_Missense_Mutation_p.S841C	p.S863C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	7	2750	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	863					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2587A>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942242	0.73672	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74002	-0.8	5.69	0.788	0.18601	.	0.648102	0.17371	N	0.176697	T	0.57932	0.2087	N	0.14661	0.345	0.28427	N	0.917453	B;B	0.31351	0.32;0.214	B;B	0.36378	0.223;0.111	T	0.54410	-0.8298	10	0.62326	D	0.03	.	9.2706	0.37668	0.7282:0.0:0.2718:0.0	.	841;863	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	C	864;842;863;841;562	ENSP00000358894:S863C	ENSP00000286899:S841C	S	+	1	0	CNNM2	104826886	0.992000	0.36948	0.004000	0.12327	0.993000	0.82548	3.075000	0.50073	-0.098000	0.12285	0.454000	0.30748	AGT		0.617	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		T	104836896	A	T	104836896	3	4	12	1	0	0	0	0	1	0	0	0	3613	188	7	5	2659	5	CNNM2	10	104836896	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	79523751	104836896	30697851	40	862											
SMC3	9126	broad.mit.edu	37	chr10	112350834	112350834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatcttcctggagaggttActtttctgcctcttaacaag	9	15	8	9	0	3	2	0	1	3	1	4	3	4	2	2	2	3	1	2	2	4	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:112350834A>G	ENST00000361804.4	+	17	1882	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	586	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAGAGGTTACTTTTCTGCC	0.328																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1756-1758)Act>Gct		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							100	99	99					10																	112350834		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112350834A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1756A>G	10.37:g.112350834A>G	ENSP00000354720:p.Thr586Ala						p.T586A	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	16	1882	+		Breast(234;0.0848)|Lung NSC(174;0.238)	586			Flexible hinge.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1756A>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782309	0.90282	.	.	ENSG00000108055	ENST00000361804	D	0.89050	-2.46	6.08	6.08	0.98989	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.92459	3.31	0.80722	D	1	D	0.64830	0.994	D	0.63381	0.914	D	0.96305	0.9224	10	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	586	Q9UQE7	SMC3_HUMAN	A	586	ENSP00000354720:T586A	ENSP00000354720:T586A	T	+	1	0	SMC3	112340824	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	8.896000	0.92521	2.333000	0.79357	0.533000	0.62120	ACT		0.328	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		G	112350834	A	G	112350834	3	3	12	1	0	0	0	0	1	0	0	0	14784	391	14	4	1822	4	SMC3	10	112350834	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	7513938	112350834	23183913	41	863											
RAG2	5897	broad.mit.edu	37	chr11	36614899	36614899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagctgatagccaccaaCaataacaaattcatcattgt	16	11	4	10	0	3	1	3	1	0	0	3	1	3	1	2	0	4	1	2	0	6	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:36614899C>A	ENST00000311485.3	-	2	981	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	274					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGCCACCAACAATAACAAAT	0.428									Familial Hemophagocytic Lymphohistiocytosis																													uc021qge.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(820-822)Gtt>Ttt		Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.							83	84	84					11																	36614899		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614899C>A	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.820G>T	11.37:g.36614899C>A	ENSP00000308620:p.Val274Phe					RAG2_uc021qgc.1_Missense_Mutation_p.V274F|RAG2_uc021qgd.1_Missense_Mutation_p.V274F|RAG2_uc001mwv.4_Missense_Mutation_p.V274F|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	p.V274F	NM_001243786	NP_001230715	P55895	RAG2_HUMAN			0	820	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	274					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.820G>T	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987402	0.53934	.	.	ENSG00000175097	ENST00000311485	T	0.73258	-0.73	5.42	5.42	0.78866	Galactose oxidase/kelch, beta-propeller (1);	0.145168	0.46442	D	0.000283	D	0.85647	0.5745	M	0.90309	3.105	0.49798	D	0.999825	D	0.71674	0.998	D	0.70227	0.968	D	0.87278	0.2290	10	0.51188	T	0.08	-1.574	13.5098	0.61504	0.0:0.9253:0.0:0.0747	.	274	P55895	RAG2_HUMAN	F	274	ENSP00000308620:V274F	ENSP00000308620:V274F	V	-	1	0	RAG2	36571475	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.162000	0.42367	2.542000	0.85734	0.650000	0.86243	GTT		0.428	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		A	36614899	C	A	36614899	3	1	12	1	0	0	0	0	1	0	0	0	13005	478	17	5	767	5	RAG2	11	36614899	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		36614899	98391617	42	864											
PPME1	51400	broad.mit.edu	37	chr11	73964552	73964552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtgtgtttcctggctgTtagtgacctgctgtccaccc	5	13	10	13	0	0	1	0	1	0	0	2	1	2	1	4	1	1	4	4	1	1	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:73964552T>C	ENST00000328257.8	+	14	1481	c.1158T>C	c.(1156-1158)tgT>tgC	p.C386C	SNORA7_ENST00000384186.1_RNA|PPME1_ENST00000543525.1_Silent_p.C199C|PPME1_ENST00000398427.4_Silent_p.C400C			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	386					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTCCTGGCTGTTAGTGACCTG	0.498																																						uc001ouw.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(1156-1158)tgT>tgC		Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.							223	225	224					11																	73964552		2077	4209	6286	SO:0001819	synonymous_variant	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73964552T>C		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.1158T>C	11.37:g.73964552T>C						PPME1_uc009yty.3_Silent_p.C270C|PPME1_uc001oux.3_Silent_p.C199C|P4HA3_uc001ouy.4_Intron|SNORA7_uc021qnf.1_5'Flank	p.C386C	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			13	1257	+	Breast(11;3.29e-05)		386					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Silent	SNP	ENST00000328257.8	37	c.1158T>C	CCDS44678.1																																																																																				0.498	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147		C	73964552	T	C	73964552	2	2	12	1	0	0	0	0	0	0	0	1	12347	1731	60	4		4	PPME1	11	73964552	Silent	SNP	T	TCGA-06-0126-01A-01D-1490-08	37349653	73964552	61041964	43	865											
HMBS	3145	broad.mit.edu	37	chr11	118962836	118962836	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttccgcctccacagaTcctgcaccctgaggaatgca	8	8	8	17	1	0	2	0	1	0	1	3	3	3	3	6	1	2	3	6	1	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:118962836T>G	ENST00000278715.3	+	10	765	c.614T>G	c.(613-615)aTc>aGc	p.I205S	HMBS_ENST00000442944.2_Splice_Site_p.I188S|HMBS_ENST00000543090.1_Intron|HMBS_ENST00000392841.1_Splice_Site_p.I188S|HMBS_ENST00000537841.1_Splice_Site_p.I188S|HMBS_ENST00000544387.1_Splice_Site_p.I205S|HMBS_ENST00000542729.1_Splice_Site_p.I188S	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	205					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCTCCACAGATCCTGCACCCT	0.537																																						uc001puz.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.e10-1		Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.							97	88	91					11																	118962836		2200	4295	6495	SO:0001630	splice_region_variant	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118962836T>G	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.613-1T>G	11.37:g.118962836T>G						HMBS_uc009zao.2_Splice_Site_p.I150_splice|HMBS_uc001pva.1_Splice_Site_p.I205_splice|HMBS_uc001pve.1_Splice_Site_p.I188_splice|HMBS_uc001pvf.1_Splice_Site_p.I188_splice	p.I205_splice	NM_000190	NP_001019553	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	10	770	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	205					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.613_splice	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499198	0.64298	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D	0.99698	-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44	5.3	5.3	0.74995	Porphobilinogen deaminase, N-terminal (1);	0.311181	0.38837	N	0.001556	D	0.98912	0.9631	L	0.57536	1.79	0.80722	D	1	B;B;B;B	0.14438	0.008;0.008;0.0;0.01	B;B;B;B	0.25291	0.005;0.012;0.013;0.059	D	0.99974	1.2135	10	0.26408	T	0.33	-11.1264	14.5779	0.68262	0.0:0.0:0.0:1.0	.	188;188;205;205	P08397-2;G3V1P4;G5EA58;P08397	.;.;.;HEM3_HUMAN	S	205;188;188;179;205;188;188	ENSP00000278715:I205S;ENSP00000444730:I188S;ENSP00000443058:I188S;ENSP00000445599:I179S;ENSP00000438424:I205S;ENSP00000376584:I188S;ENSP00000392041:I188S	ENSP00000392041:I188S	I	+	2	0	CTD-2589C9.4;HMBS	118468046	1.000000	0.71417	0.978000	0.43139	0.953000	0.61014	7.045000	0.76585	2.220000	0.72140	0.528000	0.53228	ATC		0.537	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	Missense_Mutation	G	118962836	T	G	118962836	5	3	12	1	0	0	0	0	0	0	1	0	7219	1449	50	5	652	5	HMBS	11	118962836	Splice_Site	SNP	T	TCGA-06-0126-01A-01D-1490-08	44998284	118962836	16043680	44	866											
ANO2	57101	broad.mit.edu	37	chr12	5963280	5963280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacggggcgtgtatccGgacaaagatggatccctggc	8	7	14	12	3	0	1	0	0	0	1	2	3	2	3	3	5	1	1	3	5	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:5963280G>A	ENST00000356134.5	-	4	621	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ANO2_ENST00000327087.8_Missense_Mutation_p.R184W|ANO2_ENST00000546188.1_Missense_Mutation_p.R184W	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	188					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCGTGTATCCGGACAAAGATG	0.458																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(550-552)Cgg>Tgg		Homo sapiens anoctamin 2 (ANO2), mRNA.							170	173	172					12																	5963280		1893	4104	5997	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5963280G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.550C>T	12.37:g.5963280G>A	ENSP00000348453:p.Arg184Trp					ANO2_uc021qtt.1_Missense_Mutation_p.R188W	p.R184W	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			3	622	-			188					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.060433	0.76074	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.68025	-0.3;-0.3;-0.3	5.15	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	L	0.47190	1.495	0.52099	D	0.999948	D	0.89917	1.0	D	0.91635	0.999	T	0.75536	-0.3283	10	0.87932	D	0	.	10.4386	0.44450	0.0:0.0:0.8057:0.1943	.	184	Q9NQ90-3	.	W	184;184;184;188	ENSP00000314048:R184W;ENSP00000348453:R184W;ENSP00000440981:R184W	ENSP00000314048:R184W	R	-	1	2	ANO2	5833541	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.955000	0.63638	2.566000	0.86566	0.650000	0.86243	CGG		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5963280	G	A	5963280	3	1	12	1	0	0	0	0	1	0	0	0	697	1115	39	2	2538	2	ANO2	12	5963280	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		5963280	127888615	45	867											
LUM	4060	broad.mit.edu	37	chr12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacttcgttagcaacacGtagacattcatacatatccg	13	11	7	10	3	1	2	1	1	0	1	3	2	2	2	1	0	3	3	1	0	5	6			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:91497971G>A	ENST00000266718.4	-	3	1442	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	330					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383																																						uc001tbm.3																			0		p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(988-990)Cgt>Tgt		Homo sapiens lumican (LUM), mRNA.							114	108	110					12																	91497971		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91497971G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.988C>T	12.37:g.91497971G>A	ENSP00000266718:p.Arg330Cys						p.R330C	NM_002345	NP_002336	P51884	LUM_HUMAN			2	1377	-			330					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.988C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329075	0.81690	.	.	ENSG00000139329	ENST00000266718	T	0.20200	2.09	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	M	0.78456	2.415	0.80722	D	1	D	0.62365	0.991	P	0.52957	0.714	T	0.45026	-0.9289	10	0.66056	D	0.02	-17.5142	18.291	0.90130	0.0:0.0:1.0:0.0	.	330	P51884	LUM_HUMAN	C	330	ENSP00000266718:R330C	ENSP00000266718:R330C	R	-	1	0	LUM	90022102	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	6.883000	0.75595	2.394000	0.81467	0.585000	0.79938	CGT		0.383	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		A	91497971	G	A	91497971	3	1	12	1	0	0	0	0	1	0	0	0	9085	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	85534691	91497971	42353924	46	868											
DAO	1610	broad.mit.edu	37	chr12	109288048	109288048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgctaccaggtggcaagaGaaggcgcagacgtgattgtc	10	8	15	8	2	0	3	0	1	0	2	1	4	0	3	1	3	2	4	1	3	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:109288048G>A	ENST00000228476.3	+	7	721	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_ENST00000551281.1_Missense_Mutation_p.E107K	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	173					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GGTGGCAAGAGAAGGCGCAGA	0.582																																						uc001tnr.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(517-519)Gaa>Aaa		Homo sapiens D-amino-acid oxidase (DAO), mRNA.							68	52	57					12																	109288048		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109288048G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.517G>A	12.37:g.109288048G>A	ENSP00000228476:p.Glu173Lys					DAO_uc001tnq.4_Missense_Mutation_p.E107K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	p.E173K	NM_001917	NP_001908	P14920	OXDA_HUMAN			6	1188	+			173					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.517G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	4.307	0.056174	0.08291	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768;ENST00000547166	T;T;T;T	0.80824	0.94;0.97;0.97;-1.42	5.57	5.57	0.84162	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.680297	0.16268	N	0.221885	T	0.72708	0.3494	L	0.46157	1.445	0.18873	N	0.999985	B;B	0.20780	0.009;0.048	B;B	0.21151	0.013;0.033	T	0.56232	-0.8013	10	0.07644	T	0.81	-8.6155	13.2678	0.60144	0.0:0.2611:0.7389:0.0	.	173;156	P14920;Q7Z312	OXDA_HUMAN;.	K	107;173;50;173	ENSP00000446853:E107K;ENSP00000228476:E173K;ENSP00000449967:E50K;ENSP00000447104:E173K	ENSP00000228476:E173K	E	+	1	0	DAO	107812177	0.956000	0.32656	0.996000	0.52242	0.294000	0.27393	-0.159000	0.10056	2.644000	0.89710	0.549000	0.68633	GAA		0.582	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			A	109288048	G	A	109288048	3	1	12	1	0	0	0	0	1	0	0	0	4231	943	33	3	539	3	DAO	12	109288048	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	17790077	109288048	24563847	47	869											
PCDH9	5101	broad.mit.edu	37	chr13	67800099	67800099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagatcacaacaatgaccAccatggcaccggcgatgatg	14	5	10	12	3	1	3	1	2	0	1	1	5	1	3	3	2	1	1	3	2	3	0			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr13:67800099A>T	ENST00000377865.2	-	1	2608	c.2474T>A	c.(2473-2475)gTg>gAg	p.V825E	PCDH9_ENST00000456367.1_Missense_Mutation_p.V825E|PCDH9_ENST00000377861.3_Missense_Mutation_p.V825E|PCDH9_ENST00000328454.5_Missense_Mutation_p.V825E|PCDH9_ENST00000544246.1_Missense_Mutation_p.V825E			Q9HC56	PCDH9_HUMAN	protocadherin 9	825					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGACCACCATGGCACC	0.517																																						uc001vik.3																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2473-2475)gTg>gAg		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.							214	190	198					13																	67800099		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800099A>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2474T>A	13.37:g.67800099A>T	ENSP00000367096:p.Val825Glu					PCDH9_uc001vil.3_Missense_Mutation_p.V825E|PCDH9_uc010thl.2_Missense_Mutation_p.V825E|PCDH9_uc001vin.3_Missense_Mutation_p.V825E	p.V825E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	1	3166	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	825					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2474T>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942468	0.53079	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.93	5.93	0.95920	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.56035	0.974;0.891;0.968;0.974	P;P;P;P	0.57846	0.777;0.602;0.669;0.828	T	0.27806	-1.0063	10	0.72032	D	0.01	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	825;825;825;825	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	825	ENSP00000442186:V825E;ENSP00000367096:V825E;ENSP00000401699:V825E;ENSP00000332060:V825E;ENSP00000367092:V825E	ENSP00000332060:V825E	V	-	2	0	PCDH9	66698100	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.306000	0.78905	2.271000	0.75665	0.533000	0.62120	GTG		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		T	67800099	A	T	67800099	3	4	12	1	0	0	0	0	1	0	0	0	11518	159	6	5	1255	5	PCDH9	13	67800099	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		67800099	47369779	48	870											
OR4N5	390437	broad.mit.edu	37	chr14	20612258	20612258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgtgatggcctttgacCgctacatcgccatctgccgg	5	12	11	13	4	1	2	0	2	1	0	3	2	1	2	4	2	2	2	4	2	1	3	rs202234247		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:20612258C>T	ENST00000333629.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483																																						uc010tla.2																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(364-366)Cgc>Tgc		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	155	152	153		364	3.1	1	14		153	0,8600		0,0,4300	no	missense	OR4N5	NM_001004724.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	122/309	20612258	1,13005	2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612258C>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.364C>T	14.37:g.20612258C>T	ENSP00000332110:p.Arg122Cys						p.R122C	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	364	+	all_cancers(95;0.00108)		122					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.364C>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150303	0.37923	2.27E-4	0.0	ENSG00000184394	ENST00000333629	T	0.77358	-1.09	4.0	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	T	0.76307	0.3969	M	0.87971	2.92	0.49798	D	0.999828	B	0.19331	0.035	B	0.14023	0.01	T	0.74945	-0.3491	10	0.87932	D	0	.	5.1472	0.14991	0.2028:0.6889:0.0:0.1083	.	122	Q8IXE1	OR4N5_HUMAN	C	122	ENSP00000332110:R122C	ENSP00000332110:R122C	R	+	1	0	OR4N5	19682098	0.361000	0.24972	1.000000	0.80357	0.840000	0.47671	0.858000	0.27845	1.022000	0.39626	0.655000	0.94253	CGC		0.483	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			T	20612258	C	T	20612258	3	4	12	1	0	0	0	0	1	0	0	0	11079	652	23	2	366	2	OR4N5	14	20612258	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		20612258	86737282	49	871											
CDCA4	55038	broad.mit.edu	37	chr14	105477589	105477589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagctcgcccaggtcGgacttgcagctggagctagg	6	8	15	12	2	0	0	0	0	0	0	3	2	1	2	2	5	4	4	2	5	1	2	rs534887423		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:105477589G>A	ENST00000336219.3	-	2	833	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CDCA4_ENST00000392590.3_Silent_p.S226S	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	226						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CGCCCAGGTCGGACTTGCAGC	0.672													g|||	1	0.000199681	0	0	5008	,	,		14289	0		0	False		,,,				2504	0.001					uc021sep.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(676-678)tcC>tcT		Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.							22	23	22					14																	105477589		2201	4298	6499	SO:0001819	synonymous_variant	55038					nucleus		g.chr14:105477589G>A	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.678C>T	14.37:g.105477589G>A						CDCA4_uc001yqa.2_Silent_p.S226S|CDCA4_uc001yqb.2_Silent_p.S226S	p.S226S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	0	678	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	226					Q8TB18|Q9NWK7	Silent	SNP	ENST00000336219.3	37	c.678C>T	CCDS9996.1																																																																																				0.672	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		A	105477589	G	A	105477589	2	1	12	1	0	0	0	0	0	0	0	1	3088	1103	39	2		2	CDCA4	14	105477589	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	84865331	105477589	1871951	50	872											
RYR3	6263	broad.mit.edu	37	chr15	34130001	34130002	+	Frame_Shift_Ins	INS	-	-	A																															atggtaaaggaattatctccINSaaaaaagaattccagaaggc																										TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:34130001_34130002insA	ENST00000389232.4	+	89	11890_11891	c.11820_11821insA	c.(11821-11823)aaafs	p.K3941fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.K3936fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3941					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAATTATCTCCAAAAAAGAATT	0.391																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11818-11823)tccaaafs		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130001_34130002insA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11826dupA	15.37:g.34130007_34130007dupA	ENSP00000373884:p.Lys3941fs					RYR3_uc010bar.3_Frame_Shift_Ins_p.S3935fs	p.S3940fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	88	11890_11891	+		all_lung(180;7.18e-09)	3940			EF-hand.		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.11820_11821insA	CCDS45210.1																																																																																				0.391	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34130002	-	A	34130001	7	5	12	1	0	1	1	0	0	0	0	0	13770	581	21	0	12174	0	RYR3	15	34130001	Frame_Shift_Ins	INS	-	TCGA-06-0126-01A-01D-1490-08		34130001	68401391	51	873											
EIF2AK4	440275	broad.mit.edu	37	chr15	40282488	40282488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacagggaatgattcaccgGgatttgaagcctgtcaacat	13	9	10	9	1	2	2	2	2	0	0	2	4	2	4	2	2	3	0	2	2	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:40282488G>A	ENST00000263791.5	+	16	2584	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R	EIF2AK4_ENST00000382727.2_Silent_p.R819R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	847	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGATTCACCGGGATTTGAAGC	0.378																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2539-2541)cgG>cgA		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							210	197	201					15																	40282488		1834	4095	5929	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40282488G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2541G>A	15.37:g.40282488G>A						EIF2AK4_uc010bbj.1_Silent_p.R548R|EIF2AK4_uc001zkn.1_5'Flank	p.R847R	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	15	2591	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	847			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.2541G>A	CCDS42016.1																																																																																				0.378	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			A	40282488	G	A	40282488	2	1	12	1	0	0	0	0	0	0	0	1	4999	1219	43	3		3	EIF2AK4	15	40282488	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	6152487	40282488	62248904	52	874											
NEDD4	4734	broad.mit.edu	37	chr15	56208834	56208834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatctttcttgagactgaaCgttttcctttattaacggag	9	17	8	7	2	2	3	0	3	2	1	3	5	3	4	1	1	2	1	1	1	3	7			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:56208834C>T	ENST00000508342.1	-	1	495	c.196G>A	c.(196-198)Gtt>Att	p.V66I	NEDD4_ENST00000338963.2_Missense_Mutation_p.V66I|NEDD4_ENST00000506154.1_Missense_Mutation_p.V66I|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	66					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAGACTGAACGTTTTCCTTT	0.408																																						uc002adj.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(196-198)Gtt>Att		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.							170	153	159					15																	56208834		2193	4291	6484	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56208834C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.196G>A	15.37:g.56208834C>T	ENSP00000424827:p.Val66Ile					NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.V66I|NEDD4_uc010ugj.2_Missense_Mutation_p.V66I|NEDD4_uc010bfm.3_Missense_Mutation_p.V66I|NEDD4_uc002adk.3_Non-coding_Transcript	p.V66I	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	0	496	-			66					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	C	9.940	1.217102	0.22373	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.42513	0.97;0.97;0.97	5.23	-1.34	0.09143	.	0.511438	0.14571	N	0.311457	T	0.25344	0.0616	.	.	.	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.005	B;B;B	0.06405	0.002;0.001;0.002	T	0.14172	-1.0482	9	0.38643	T	0.18	.	6.5967	0.22677	0.0:0.3408:0.1296:0.5296	.	66;66;66	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	I	66	ENSP00000424827:V66I;ENSP00000345530:V66I;ENSP00000422705:V66I	ENSP00000345530:V66I	V	-	1	0	NEDD4	53996126	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	-0.809000	0.04510	-0.164000	0.10927	-0.942000	0.02676	GTT		0.408	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		T	56208834	C	T	56208834	3	4	12	1	0	0	0	0	1	0	0	0	10310	536	19	1	3863	1	NEDD4	15	56208834	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	15926346	56208834	46322558	53	875											
SCNN1G	6340	broad.mit.edu	37	chr16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctatcattgcccgccGccagtggcagaaagccaagg	9	8	10	14	2	2	1	1	0	1	1	3	1	2	1	4	2	2	1	4	2	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:23226531G>A	ENST00000300061.2	+	13	1834	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	564					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.R564H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587																																						uc002dlm.1																			1	Substitution - Missense(1)	p.R564H(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1690-1692)cGc>cAc		Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						92	87	89					16																	23226531		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226531G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1691G>A	16.37:g.23226531G>A	ENSP00000300061:p.Arg564His						p.R564H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	12	1830	+			564					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1691G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	5.103	0.204701	0.09704	.	.	ENSG00000166828	ENST00000300061	T	0.73575	-0.76	5.22	-0.291	0.12843	.	0.550372	0.18016	N	0.154418	T	0.48892	0.1525	N	0.08118	0	0.18873	N	0.999981	B	0.11235	0.004	B	0.06405	0.002	T	0.28235	-1.0050	10	0.15499	T	0.54	-39.1964	10.5884	0.45296	0.4739:0.0:0.5261:0.0	.	564	P51170	SCNNG_HUMAN	H	564	ENSP00000300061:R564H	ENSP00000300061:R564H	R	+	2	0	SCNN1G	23134032	0.000000	0.05858	0.161000	0.22692	0.615000	0.37417	-0.164000	0.09983	-0.292000	0.08999	-0.258000	0.10820	CGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		A	23226531	G	A	23226531	3	1	12	1	0	0	0	0	1	0	0	0	13930	1087	38	1	1737	1	SCNN1G	16	23226531	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		23226531	67128222	54	876											
CHD9	80205	broad.mit.edu	37	chr16	53289572	53289572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaggtgcttatggtgctAttatggaggaagaagatgaa	14	10	15	2	0	0	4	0	1	0	3	0	7	0	6	0	4	2	2	0	4	7	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:53289572A>G	ENST00000398510.3	+	18	4177	c.4090A>G	c.(4090-4092)Att>Gtt	p.I1364V	CHD9_ENST00000564845.1_Missense_Mutation_p.I1364V|CHD9_ENST00000447540.1_Missense_Mutation_p.I1364V|CHD9_ENST00000566029.1_Missense_Mutation_p.I1364V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1364					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATGGTGCTATTATGGAGGA	0.348																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(4090-4092)Att>Gtt		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							133	127	129					16																	53289572		1864	4120	5984	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53289572A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4090A>G	16.37:g.53289572A>G	ENSP00000381522:p.Ile1364Val					CHD9_uc002egy.3_Missense_Mutation_p.I1364V|CHD9_uc002ehc.3_Missense_Mutation_p.I1364V|CHD9_uc002ehf.3_Missense_Mutation_p.I478V|CHD9_uc002ehg.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	p.I1364V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			17	4254	+		all_cancers(37;0.0212)	1364					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4090A>G		.	.	.	.	.	.	.	.	.	.	A	17.13	3.309539	0.60414	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.83506	-1.73;-1.73	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000014	T	0.80019	0.4547	L	0.52573	1.65	0.58432	D	0.999999	B;B;P;P	0.42518	0.008;0.189;0.675;0.782	B;B;B;B	0.40165	0.036;0.321;0.145;0.28	T	0.78897	-0.2023	10	0.30854	T	0.27	-16.5135	16.1069	0.81230	1.0:0.0:0.0:0.0	.	890;1364;1364;1364	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	1364;1364;890	ENSP00000396345:I1364V;ENSP00000381522:I1364V	ENSP00000219084:I890V	I	+	1	0	CHD9	51847073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.168000	0.64978	2.198000	0.70561	0.528000	0.53228	ATT		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53289572	A	G	53289572	3	3	12	1	0	0	0	0	1	0	0	0	3332	449	16	4	4160	4	CHD9	16	53289572	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	30063041	53289572	37065181	55	877											
CDH16	1014	broad.mit.edu	37	chr16	66946751	66946751	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgggaattgggggagccGggggcatctgcatcctctgc	6	8	17	10	2	2	0	0	0	2	0	3	2	3	2	2	5	3	2	2	5	1	1	rs201292764		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:66946751G>T	ENST00000299752.4	-	10	1291	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	CDH16_ENST00000565796.1_Silent_p.P366P|CDH16_ENST00000570262.1_Silent_p.P286P|CDH16_ENST00000394055.3_Silent_p.P366P|CDH16_ENST00000568632.1_Silent_p.P269P	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	366	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGGGGAGCCGGGGGCATCTG	0.612																																						uc002eql.3																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1096-1098)ccC>ccA		Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.							59	63	62					16																	66946751		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946751G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1098C>A	16.37:g.66946751G>T						CDH16_uc010cdy.3_Silent_p.P366P|CDH16_uc021tjx.1_Silent_p.P366P|CDH16_uc002eqm.3_Silent_p.P269P	p.P366P	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1292	-		Ovarian(137;0.0563)	366			Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1098C>A	CCDS10823.1																																																																																				0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		T	66946751	G	T	66946751	2	4	12	1	0	0	0	0	0	0	0	1	3101	1103	39	5		5	CDH16	16	66946751	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	13657179	66946751	23408002	56	878											
PLCG2	5336	broad.mit.edu	37	chr16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaccagtccatcgccatcGagctctctgacctggttgtc	8	10	9	14	2	1	2	0	1	1	1	6	3	2	2	4	1	2	2	4	1	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:81968079G>A	ENST00000359376.3	+	26	2999	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	929					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478																																						uc002fgt.3																			0		p.I928I(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2785-2787)Gag>Aag		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							84	89	88					16																	81968079		1977	4156	6133	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81968079G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2785G>A	16.37:g.81968079G>A	ENSP00000352336:p.Glu929Lys						p.E929K	NM_002661	NP_002652	P16885	PLCG2_HUMAN			25	2963	+			929					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2785G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641923	0.96704	.	.	ENSG00000197943	ENST00000359376	T	0.69175	-0.38	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.89616	0.3845	10	0.87932	D	0	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	929	P16885	PLCG2_HUMAN	K	929	ENSP00000352336:E929K	ENSP00000352336:E929K	E	+	1	0	PLCG2	80525580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.689000	0.98673	2.473000	0.83533	0.561000	0.74099	GAG		0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			A	81968079	G	A	81968079	3	1	12	1	0	0	0	0	1	0	0	0	12036	1059	37	2	2883	2	PLCG2	16	81968079	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	15021328	81968079	8386674	57	879											
HEXIM2	124790	broad.mit.edu	37	chr17	43246862	43246862	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtgatgggcggggcCgagcgcacggtgagttccag	7	5	20	9	4	0	2	0	2	0	0	1	4	1	3	2	5	1	2	2	5	0	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:43246862C>T	ENST00000307275.3	+	4	983	c.547C>T	c.(547-549)Cga>Tga	p.R183*	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Nonsense_Mutation_p.R183*|HEXIM2_ENST00000592695.1_Nonsense_Mutation_p.R183*	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	183					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						TGGGCGGGGCCGAGCGCACGG	0.647																																						uc002iik.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5								Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.							28	25	26					17																	43246862		2202	4300	6502	SO:0001587	stop_gained	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246862C>T	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.547C>T	17.37:g.43246862C>T	ENSP00000302276:p.Arg183*					HEXIM2_uc002iih.1_Nonsense_Mutation_p.R183*|HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*				Q96MH2	HEXI2_HUMAN			1		-								D3DX66	Nonsense_Mutation	SNP	ENST00000307275.3	37	c.1358G>A	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519201	0.64634	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.79	1.37	0.22104	.	1.220890	0.05438	N	0.547098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	1.5834	1.1155	0.01713	0.3038:0.3723:0.1476:0.1763	.	.	.	.	X	183	.	ENSP00000302276:R183X	R	+	1	2	HEXIM2	40602645	0.000000	0.05858	0.007000	0.13788	0.454000	0.32378	0.585000	0.23879	0.689000	0.31550	0.561000	0.74099	CGA		0.647	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		T	43246862	C	T	43246862	4	4	12	1	0	0	0	0	0	1	0	0	7077	644	23	2	553	2	HEXIM2	17	43246862	Nonsense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		43246862	37948348	58	880											
TEX2	55852	broad.mit.edu	37	chr17	62272375	62272375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcttaaggttccaccCtcaagtcgaacaaagactga	15	8	8	10	1	2	2	1	1	1	1	4	4	3	2	2	1	1	1	2	1	5	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:62272375C>A	ENST00000583097.1	-	3	1897	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	TEX2_ENST00000584379.1_Missense_Mutation_p.E575D|TEX2_ENST00000258991.3_Missense_Mutation_p.E575D			Q8IWB9	TEX2_HUMAN	testis expressed 2	575					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGGTTCCACCCTCAAGTCGAA	0.423																																						uc002jed.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1723-1725)gaG>gaT		Homo sapiens testis expressed 2 (TEX2), mRNA.							123	110	115					17																	62272375		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272375C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1725G>T	17.37:g.62272375C>A	ENSP00000462665:p.Glu575Asp					TEX2_uc002jec.3_Missense_Mutation_p.E575D|TEX2_uc002jee.3_Missense_Mutation_p.E575D	p.E575D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1876	-			575					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1725G>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.213428	0.39102	.	.	ENSG00000136478	ENST00000258991	T	0.52526	0.66	6.07	0.113	0.14631	Pleckstrin homology domain (1);	0.106321	0.64402	D	0.000004	T	0.39989	0.1099	L	0.46157	1.445	0.53005	D	0.999964	P;B	0.43352	0.804;0.32	P;B	0.45119	0.47;0.194	T	0.11665	-1.0578	10	0.31617	T	0.26	-23.2703	8.2416	0.31662	0.0:0.3302:0.0:0.6698	.	575;575	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	D	575	ENSP00000258991:E575D	ENSP00000258991:E575D	E	-	3	2	TEX2	59626107	0.999000	0.42202	0.999000	0.59377	0.984000	0.73092	0.652000	0.24888	0.149000	0.19098	-0.140000	0.14226	GAG		0.423	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62272375	C	A	62272375	3	1	12	1	0	0	0	0	1	0	0	0	15778	680	24	5	1719	5	TEX2	17	62272375	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	19025513	62272375	18922835	59	881											
MUC16	94025	broad.mit.edu	37	chr19	9085127	9085127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatctgatgctactgtggAcaagccaggtggacctgcgc	9	9	12	11	1	1	1	0	1	1	0	1	3	1	3	2	3	5	1	2	3	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9085127A>G	ENST00000397910.4	-	1	6891	c.6688T>C	c.(6688-6690)Tcc>Ccc	p.S2230P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2230	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTACTGTGGACAAGCCAGGT	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6688-6690)Tcc>Ccc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							111	107	108					19																	9085127		1984	4176	6160	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085127A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6688T>C	19.37:g.9085127A>G	ENSP00000381008:p.Ser2230Pro						p.S2230P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	6892	-			2230			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6688T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.899	0.535476	0.13188	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.225	0.225	0.15325	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	.	.	.	P	0.51449	0.945	P	0.57425	0.82	T	0.45760	-0.9239	7	0.87932	D	0	.	.	.	.	.	2230	B5ME49	.	P	2230	ENSP00000381008:S2230P	ENSP00000381008:S2230P	S	-	1	0	MUC16	8946127	0.929000	0.31497	0.486000	0.27416	0.539000	0.34962	0.349000	0.20055	0.257000	0.21650	0.254000	0.18369	TCC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9085127	A	G	9085127	3	3	12	1	0	0	0	0	1	0	0	0	9973	275	10	4	37171	4	MUC16	19	9085127	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		9085127	50043856	60	882											
OR7G2	390882	broad.mit.edu	37	chr19	9213088	9213088	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgagggaacacagaatAcatcactgaagccactgcag	15	7	9	10	0	1	3	1	2	0	1	1	4	1	4	1	1	4	1	1	1	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9213088A>T	ENST00000305456.2	-	1	894	c.895T>A	c.(895-897)Tat>Aat	p.Y299N		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AACACAGAATACATCACTGAA	0.453																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(895-897)Tat>Aat		Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.							123	108	113					19																	9213088		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213088A>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.895T>A	19.37:g.9213088A>T	ENSP00000303822:p.Tyr299Asn						p.Y299N	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			0	895	-			278					Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.895T>A	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	a	16.82	3.228347	0.58777	.	.	ENSG00000170923	ENST00000305456	T	0.00321	8.11	3.14	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34223	U	0.004143	T	0.00875	0.0029	M	0.93978	3.48	0.33641	D	0.607277	D	0.89917	1.0	D	0.97110	1.0	T	0.27157	-1.0082	10	0.87932	D	0	.	11.3084	0.49349	1.0:0.0:0.0:0.0	.	278	Q8NG99	OR7G2_HUMAN	N	299	ENSP00000303822:Y299N	ENSP00000303822:Y299N	Y	-	1	0	OR7G2	9074088	0.776000	0.28616	0.868000	0.34077	0.096000	0.18686	5.151000	0.64875	1.718000	0.51419	0.367000	0.22151	TAT		0.453	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			T	9213088	A	T	9213088	3	4	12	1	0	0	0	0	1	0	0	0	11223	391	14	5	144	5	OR7G2	19	9213088	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	127961	9213088	49915895	61	883											
PKN1	5585	broad.mit.edu	37	chr19	14574778	14574778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatccgaggcccggaccaCggggtaaggaaggagggccc	10	2	18	11	3	0	0	0	0	0	0	1	5	1	4	4	8	0	1	4	8	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:14574778C>T	ENST00000242783.6	+	11	1799	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	PKN1_ENST00000342216.4_Missense_Mutation_p.T551M	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	545					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCCCGGACCACGGGGTAAGGA	0.672																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1633-1635)aCg>aTg		Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.							28	33	31					19																	14574778		2037	4188	6225	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574778C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1634C>T	19.37:g.14574778C>T	ENSP00000242783:p.Thr545Met					PKN1_uc002myq.3_Missense_Mutation_p.T551M	p.T545M	NM_002741	NP_002732	Q16512	PKN1_HUMAN			10	1802	+			545					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1634C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	2.831	-0.242646	0.05906	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.29655	1.56;1.56	3.9	0.0614	0.14340	.	0.411490	0.22040	U	0.065467	T	0.20455	0.0492	L	0.40543	1.245	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.06405	0.002;0.001	T	0.14504	-1.0470	10	0.51188	T	0.08	-36.0628	6.0351	0.19702	0.0:0.6025:0.0:0.3975	.	551;545	Q16512-2;Q16512	.;PKN1_HUMAN	M	545;551	ENSP00000242783:T545M;ENSP00000343325:T551M	ENSP00000242783:T545M	T	+	2	0	PKN1	14435778	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.238000	0.18004	-0.064000	0.13043	0.484000	0.47621	ACG		0.672	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		T	14574778	C	T	14574778	3	4	12	1	0	0	0	0	1	0	0	0	11979	536	19	1	1719	1	PKN1	19	14574778	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	5361690	14574778	44554205	62	884											
TMEM59L	25789	broad.mit.edu	37	chr19	18731283	18731283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctgtacccgccgccGtcccacgcctgtgaggacag	5	6	12	18	4	0	1	0	1	0	0	1	2	1	2	7	2	1	1	7	2	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:18731283G>A	ENST00000600490.1	+	9	1151	c.966G>A	c.(964-966)ccG>ccA	p.P322P	TMEM59L_ENST00000262817.3_Silent_p.P322P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	322						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACCCGCCGCCGTCCCACGCCT	0.642																																						uc002njy.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(964-966)ccG>ccA		Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.							76	69	71					19																	18731283		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18731283G>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.966G>A	19.37:g.18731283G>A							p.P322P	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			7	1053	+			322						Silent	SNP	ENST00000600490.1	37	c.966G>A	CCDS12383.1																																																																																				0.642	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			A	18731283	G	A	18731283	2	1	12	1	0	0	0	0	0	0	0	1	16183	1132	40	1		1	TMEM59L	19	18731283	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	4156505	18731283	40397700	63	885											
ZNF135	7694	broad.mit.edu	37	chr19	58579144	58579144	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaccgagcatcggaggaTtcacacaggagagaagccct	12	5	12	12	2	1	2	1	1	0	1	2	7	1	5	3	3	2	1	3	3	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:58579144T>G	ENST00000313434.5	+	5	1393	c.1292T>G	c.(1291-1293)aTt>aGt	p.I431S	ZNF135_ENST00000506786.1_Missense_Mutation_p.I389S|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Missense_Mutation_p.I455S|ZNF135_ENST00000439855.2_Missense_Mutation_p.I431S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.I443S	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	431					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCGGAGGATTCACACAGGA	0.547																																						uc002qrg.3																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1363-1365)aTt>aGt		Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.							73	72	72					19																	58579144		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579144T>G	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1292T>G	19.37:g.58579144T>G	ENSP00000321406:p.Ile431Ser					ZNF135_uc002qre.3_Missense_Mutation_p.I431S|ZNF135_uc002qrf.3_Missense_Mutation_p.I389S|ZNF135_uc010yhq.2_Missense_Mutation_p.I443S|ZNF135_uc010yhr.2_Missense_Mutation_p.I252S|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	p.I455S	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	3	1367	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	443					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1364T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.427|9.427	1.084436|1.084436	0.20309|0.20309	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T	.|0.00659	.|5.94;5.94;5.94;5.94;5.94	3.1|3.1	3.1|3.1	0.35709|0.35709	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	L|L	0.28776|0.28776	0.89|0.89	0.26016|0.26016	N|N	0.981928|0.981928	.|P;D	.|0.63880	.|0.875;0.993	.|P;D	.|0.70227	.|0.591;0.968	T|T	0.54029|0.54029	-0.8354|-0.8354	5|9	.|0.72032	.|D	.|0.01	.|.	6.485|6.485	0.22083|0.22083	0.0:0.1241:0.0:0.8759|0.0:0.1241:0.0:0.8759	.|.	.|443;431	.|E9PEV2;P52742	.|.;ZN135_HUMAN	V|S	449|455;431;431;443;389	.|ENSP00000441410:I455S;ENSP00000444828:I431S;ENSP00000321406:I431S;ENSP00000422074:I443S;ENSP00000427691:I389S	.|ENSP00000321406:I431S	F|I	+|+	1|2	0|0	ZNF135|ZNF135	63270956|63270956	0.000000|0.000000	0.05858|0.05858	0.956000|0.956000	0.39512|0.39512	0.031000|0.031000	0.12232|0.12232	0.340000|0.340000	0.19892|0.19892	1.417000|1.417000	0.47077|0.47077	0.455000|0.455000	0.32223|0.32223	TTC|ATT		0.547	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		G	58579144	T	G	58579144	3	3	12	1	0	0	0	0	1	0	0	0	17722	1493	52	5	1495	5	ZNF135	19	58579144	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	39847861	58579144	549839	64	886											
ABCG1	9619	broad.mit.edu	37	chr21	43708133	43708133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccttttctttggcacCggccctctgaagaggtaaag	9	11	10	11	1	2	3	0	2	2	1	2	3	2	3	3	3	1	2	3	3	4	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:43708133C>T	ENST00000361802.2	+	9	1253	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	ABCG1_ENST00000398437.1_Missense_Mutation_p.R516W|ABCG1_ENST00000347800.2_Missense_Mutation_p.R367W|ABCG1_ENST00000340588.4_Missense_Mutation_p.R478W|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.R381W|ABCG1_ENST00000398449.3_Missense_Mutation_p.R370W|ABCG1_ENST00000398457.2_Missense_Mutation_p.R372W	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	370					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCTTTGGCACCGGCCCTCTGA	0.577																																						uc011aev.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1141-1143)Cgg>Tgg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	Adenosine triphosphate(DB00171)						135	139	138					21																	43708133		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43708133C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1108C>T	21.37:g.43708133C>T	ENSP00000354995:p.Arg370Trp					ABCG1_uc002zam.3_Missense_Mutation_p.R348W|ABCG1_uc002zan.3_Missense_Mutation_p.R372W|ABCG1_uc002zao.3_Missense_Mutation_p.R367W|ABCG1_uc002zap.3_Missense_Mutation_p.R370W|ABCG1_uc002zaq.3_Missense_Mutation_p.R370W|ABCG1_uc002zar.3_Missense_Mutation_p.R381W|ABCG1_uc010gpb.2_5'UTR	p.R381W	NM_004915	NP_004906	P45844	ABCG1_HUMAN			8	1215	+			370					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1141C>T	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.768977|2.768977	0.49680|0.49680	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|D;D;D;D;D;D;D	.|0.86956	.|-2.11;-2.11;-2.11;-2.03;-2.11;-2.19;-2.17	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.254163	.|0.36066	.|N	.|0.002815	T|T	0.77890|0.77890	0.4198|0.4198	N|N	0.08118|0.08118	0|0	0.52099|0.52099	D|D	0.999946|0.999946	.|P;P;D;D;D;D	.|0.69078	.|0.628;0.883;0.96;0.963;0.997;0.994	.|B;B;B;B;P;B	.|0.49047	.|0.241;0.176;0.16;0.319;0.599;0.432	T|T	0.76908|0.76908	-0.2785|-0.2785	5|9	.|.	.|.	.|.	-15.238|-15.238	11.273|11.273	0.49150|0.49150	0.3204:0.6796:0.0:0.0|0.3204:0.6796:0.0:0.0	.|.	.|381;381;370;370;367;372	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	L|W	105|372;367;370;370;381;516;478	.|ENSP00000381475:R372W;ENSP00000291524:R367W;ENSP00000381467:R370W;ENSP00000354995:R370W;ENSP00000339744:R381W;ENSP00000381464:R516W;ENSP00000343820:R478W	.|.	P|R	+|+	2|1	0|2	ABCG1|ABCG1	42581202|42581202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.243000|1.243000	0.32767|0.32767	2.050000|2.050000	0.60909|0.60909	0.467000|0.467000	0.42956|0.42956	CCG|CGG		0.577	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		T	43708133	C	T	43708133	3	4	12	1	0	0	0	0	1	0	0	0	68	643	23	2	1310	2	ABCG1	21	43708133	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		43708133	4421762	65	887											
SREBF2	6721	broad.mit.edu	37	chr22	42276831	42276831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcctggaacgtgatcCgctacagcctgcagaagcta	9	8	10	14	2	1	2	0	1	1	1	3	3	2	3	4	1	5	3	4	1	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:42276831C>T	ENST00000361204.4	+	10	2039	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	625					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAACGTGATCCGCTACAGCCT	0.647																																						uc003bbi.3																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1873-1875)Cgc>Tgc		Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.							40	41	41					22																	42276831		2202	4298	6500	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42276831C>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1873C>T	22.37:g.42276831C>T	ENSP00000354476:p.Arg625Cys					bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	p.R625C	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			9	2042	+			625					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.1873C>T	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.166684|5.166684	0.94768|0.94768	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000444813|ENST00000361204;ENST00000457567	.|T	.|0.35605	.|1.3	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64204|0.64204	0.2577|0.2577	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.70400|0.70400	-0.4882|-0.4882	6|10	0.87932|0.87932	D|D	0|0	-18.6595|-18.6595	18.1685|18.1685	0.89736|0.89736	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|625	.|Q12772	.|SRBP2_HUMAN	L|C	658|625	.|ENSP00000354476:R625C	ENSP00000395728:P658L|ENSP00000354476:R625C	P|R	+|+	2|1	0|0	SREBF2|SREBF2	40606777|40606777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.959000|5.959000	0.70339|0.70339	2.292000|2.292000	0.77174|0.77174	0.478000|0.478000	0.44815|0.44815	CCG|CGC		0.647	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42276831	C	T	42276831	3	4	12	1	0	0	0	0	1	0	0	0	15141	652	23	2	1911	2	SREBF2	22	42276831	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		42276831	9027735	66	888											
SLC45A1	50651	broad.mit.edu	37	chr1	8403928	8403928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggggcccctgacctcggCcgtgggcagtgccaacgggg	4	5	17	15	3	0	1	0	1	0	0	1	1	0	1	6	6	2	1	6	6	1	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:8403928C>T	ENST00000471889.1	+	9	2487	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A735V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A701V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	701					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A701V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTCGGCCGTGGGCAGT	0.617																																						uc001apb.3																			1	Substitution - Missense(1)	p.A701V(2)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(2101-2103)gCc>gTc		Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.							97	76	83					1																	8403928		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8403928C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2102C>T	1.37:g.8403928C>T	ENSP00000418096:p.Ala701Val					SLC45A1_uc001apc.3_Missense_Mutation_p.A399V	p.A701V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	2102	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	701					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.2102C>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	7.498	0.652040	0.14580	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.81415	-1.49;-1.49;-1.49	5.04	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);	0.344337	0.32147	N	0.006504	T	0.64494	0.2603	N	0.25825	0.765	0.38958	D	0.958495	B	0.02656	0.0	B	0.04013	0.001	T	0.58370	-0.7648	10	0.16420	T	0.52	-20.3849	7.5	0.27511	0.0:0.7718:0.0:0.2282	.	701	Q9Y2W3	S45A1_HUMAN	V	701;735;701	ENSP00000418096:A701V;ENSP00000366699:A735V;ENSP00000289877:A701V	ENSP00000289877:A701V	A	+	2	0	SLC45A1	8326515	1.000000	0.71417	0.862000	0.33874	0.788000	0.44548	4.555000	0.60767	2.327000	0.79052	0.555000	0.69702	GCC		0.617	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8403928	C	T	8403928	3	4	13	1	0	0	0	0	1	0	0	0	14640	739	26	3	2132	3	SLC45A1	1	8403928	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		8403928	240846693	1	889											
ZNF644	84146	broad.mit.edu	37	chr1	91405171	91405171	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtaggtagctgattttttGgatgatcctactacagagtc	10	15	10	6	0	0	3	0	2	0	1	2	4	1	4	1	2	3	3	1	2	4	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:91405171G>C	ENST00000370440.1	-	3	1957	c.1740C>G	c.(1738-1740)tcC>tcG	p.S580S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.S580S|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGATTTTTTGGATGATCCTA	0.383																																						uc001dnw.3																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1738-1740)tcC>tcG		Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.							114	114	114					1																	91405171		2203	4299	6502	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405171G>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1740C>G	1.37:g.91405171G>C						ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.S580S	p.S580S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	2	2023	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	580					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.1740C>G	CCDS731.1																																																																																				0.383	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		C	91405171	G	C	91405171	2	2	13	1	0	0	0	0	0	0	0	1	18057	1335	47	5		5	ZNF644	1	91405171	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	83001243	91405171	157845450	2	890											
ANKRD35	148741	broad.mit.edu	37	chr1	145558859	145558859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtacacccctgatgatcGcatcgctgggtgggcacgca	8	7	13	13	4	0	2	0	2	0	0	2	3	0	2	2	2	1	5	2	2	1	1	rs150752253	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:145558859G>A	ENST00000355594.4	+	7	565	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	160								p.A160T(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGATGATCGCATCGCTGGG	0.577																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)	p.A160T(2)	kidney(1)	NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(478-480)Gca>Aca		Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.		G	THR/ALA	0,4406		0,0,2203	129	121	124		478	5.5	0.9	1	dbSNP_134	124	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ANKRD35	NM_144698.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	160/1002	145558859	4,13002	2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558859G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.478G>A	1.37:g.145558859G>A	ENSP00000347802:p.Ala160Thr					ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	p.A160T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			6	586	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		160					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.478G>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119812	0.77323	0.0	4.65E-4	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.81163	-1.46	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.45606	D	0.000347	D	0.90679	0.7076	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91992	0.5604	10	0.59425	D	0.04	-11.9671	14.9105	0.70752	0.0:0.0:1.0:0.0	.	160	Q8N283	ANR35_HUMAN	T	69;160	ENSP00000347802:A160T	ENSP00000347802:A160T	A	+	1	0	ANKRD35	144270216	0.992000	0.36948	0.915000	0.36163	0.345000	0.29048	4.990000	0.63876	2.583000	0.87209	0.655000	0.94253	GCA		0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145558859	G	A	145558859	3	1	13	1	0	0	0	0	1	0	0	0	664	1087	38	1	504	1	ANKRD35	1	145558859	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	54153688	145558859	103691762	3	891											
SLC45A3	85414	broad.mit.edu	37	chr1	205632669	205632669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgaagggccggcggcGgccatagcgtccacgccagt	8	4	15	14	5	0	2	0	1	0	1	1	2	1	2	5	4	1	0	5	4	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:205632669G>A	ENST00000367145.3	-	3	545	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCCGGCGGCGGCCATAGCGT	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"solute carrier family 45, member 3"			E	"ETV1, ETV5, ELK4, ERG"		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(250-252)Cgc>Tgc		Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.																																				SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632669G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.250C>T	1.37:g.205632669G>A	ENSP00000356113:p.Arg84Cys					SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	p.R84C	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	589	-	Breast(84;0.07)		84					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.250C>T	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543936	0.45280	.	.	ENSG00000158715	ENST00000367145	D	0.93133	-3.17	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97814	1.0252	10	0.87932	D	0	-11.9166	18.1315	0.89603	0.0:0.0:1.0:0.0	.	84	Q96JT2	S45A3_HUMAN	C	84	ENSP00000356113:R84C	ENSP00000356113:R84C	R	-	1	0	SLC45A3	203899292	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.200000	0.65158	2.676000	0.91093	0.655000	0.94253	CGC		0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		A	205632669	G	A	205632669	3	1	13	1	0	0	0	0	1	0	0	0	14642	1116	39	2	1423	2	SLC45A3	1	205632669	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	60073810	205632669	43617952	4	892											
FAM177B	400823	broad.mit.edu	37	chr1	222919976	222919976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggattatccattttgttgAcggagacatcatggaagaat	14	12	10	5	1	1	3	1	1	0	2	2	6	2	5	1	3	0	1	1	3	4	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:222919976A>G	ENST00000445590.2	+	3	355	c.89A>G	c.(88-90)gAc>gGc	p.D30G	FAM177B_ENST00000360827.2_Missense_Mutation_p.D30G	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CATTTTGTTGACGGAGACATC	0.408																																						uc001hnt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						c.(88-90)gAc>gGc		Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.							75	70	71					1																	222919976		2203	4300	6503	SO:0001583	missense	400823							g.chr1:222919976A>G	AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.89A>G	1.37:g.222919976A>G	ENSP00000414451:p.Asp30Gly					AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	p.D30G	NM_207468	NP_997351	A6PVY3	F177B_HUMAN			2	355	+			30					Q6ZUN8	Missense_Mutation	SNP	ENST00000445590.2	37	c.89A>G	CCDS1535.2	.	.	.	.	.	.	.	.	.	.	a	15.27	2.782303	0.49891	.	.	ENSG00000197520	ENST00000434700;ENST00000445590;ENST00000360827;ENST00000456298	T;T;T;T	0.55052	0.56;1.08;1.08;0.54	4.67	4.67	0.58626	.	0.451006	0.18387	N	0.142781	T	0.52757	0.1754	M	0.76574	2.34	0.22666	N	0.998877	P	0.45957	0.869	B	0.42087	0.375	T	0.51004	-0.8760	10	0.33940	T	0.23	-15.5951	10.4983	0.44791	1.0:0.0:0.0:0.0	.	30	A6PVY3	F177B_HUMAN	G	30	ENSP00000391615:D30G;ENSP00000414451:D30G;ENSP00000354070:D30G;ENSP00000400233:D30G	ENSP00000354070:D30G	D	+	2	0	FAM177B	220986599	0.997000	0.39634	0.989000	0.46669	0.599000	0.36880	3.069000	0.50026	1.728000	0.51552	0.472000	0.43445	GAC		0.408	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092151.2	NM_207468		G	222919976	A	G	222919976	3	3	13	1	0	0	0	0	1	0	0	0	5502	275	10	4	91	4	FAM177B	1	222919976	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	17287307	222919976	26330645	5	893											
EXO1	9156	broad.mit.edu	37	chr1	242048792	242048792	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactcaatgagctctggaaAaactttggatttaaaaagtg	17	11	8	5	0	2	1	1	1	1	0	2	3	2	3	0	2	3	1	0	2	7	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:242048792A>G	ENST00000366548.3	+	15	2981	c.2388A>G	c.(2386-2388)aaA>aaG	p.K796K	EXO1_ENST00000348581.5_Silent_p.K796K|EXO1_ENST00000518483.1_Silent_p.K796K	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	796	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGCTCTGGAAAAACTTTGGAT	0.418								Editing and processing nucleases																														uc021plj.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(2386-2388)aaA>aaG	Editing and processing nucleases	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.							73	81	78					1																	242048792		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242048792A>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2388A>G	1.37:g.242048792A>G						EXO1_uc001hzh.3_Silent_p.K796K|EXO1_uc009xgq.3_Silent_p.K795K|EXO1_uc021plk.1_Silent_p.K796K	p.K796K	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	2702	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	796			Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.2388A>G	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	7.748	0.702679	0.15172	.	.	ENSG00000174371	ENST00000521202	T	0.70045	-0.45	5.86	2.3	0.28687	.	0.206150	0.50627	D	0.000117	T	0.72479	0.3465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71066	-0.4700	7	0.72032	D	0.01	-22.6712	9.4805	0.38898	0.8014:0.0:0.1986:0.0	.	.	.	.	E	161	ENSP00000428326:K161E	ENSP00000428326:K161E	K	+	1	0	EXO1	240115415	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.182000	0.42556	0.133000	0.18654	-1.114000	0.02060	AAA		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		G	242048792	A	G	242048792	2	3	13	1	0	0	0	0	0	0	0	1	5300	11	1	4		4	EXO1	1	242048792	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	19128816	242048792	7201829	6	894											
WDR43	23160	broad.mit.edu	37	chr2	29158460	29158460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcatactattattcCgttgttacaagaggtaactg	10	13	8	10	1	0	1	0	0	0	1	1	1	1	1	3	1	4	4	3	1	6	7	rs376467674		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:29158460C>T	ENST00000407426.3	+	12	1567	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	504						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTATTATTCCGTTGTTACAA	0.328																																						uc002rmo.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1510-1512)cCg>cTg		Homo sapiens WD repeat domain 43 (WDR43), mRNA.		C	LEU/PRO	1,3663		0,1,1831	110	101	104		1511	5.7	1	2		104	0,8158		0,0,4079	no	missense	WDR43	NM_015131.1	98	0,1,5910	TT,TC,CC		0.0,0.0273,0.0085	probably-damaging	504/678	29158460	1,11821	1832	4079	5911	SO:0001583	missense	23160					nucleolus		g.chr2:29158460C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1511C>T	2.37:g.29158460C>T	ENSP00000384302:p.Pro504Leu						p.P504L	NM_015131	NP_055946	Q15061	WDR43_HUMAN			11	1543	+	Acute lymphoblastic leukemia(172;0.155)		504					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1511C>T	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.316522|3.316522	0.60524|0.60524	2.73E-4|2.73E-4	0.0|0.0	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.68025|.	-0.3|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76485|0.76485	0.3994|0.3994	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.62435|.	0.902|.	T|T	0.73972|0.73972	-0.3814|-0.3814	10|5	0.22109|.	T|.	0.4|.	-13.307|-13.307	19.7203|19.7203	0.96139|0.96139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504|.	Q15061|.	WDR43_HUMAN|.	L|C	504|56	ENSP00000384302:P504L|.	ENSP00000384302:P504L|.	P|R	+|+	2|1	0|0	WDR43|WDR43	29011964|29011964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.315000|0.315000	0.28087|0.28087	5.634000|5.634000	0.67833|0.67833	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.328	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		T	29158460	C	T	29158460	3	4	13	1	0	0	0	0	1	0	0	0	17292	652	23	2	1557	2	WDR43	2	29158460	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		29158460	214040913	7	895											
THADA	63892	broad.mit.edu	37	chr2	43804328	43804328	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctcctgcagctgctcatAaaccactcggggacactggt	9	8	11	13	1	1	0	1	0	0	0	3	1	2	1	2	4	4	4	2	4	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:43804328A>T	ENST00000405006.4	-	10	1221	c.870T>A	c.(868-870)ttT>ttA	p.F290L	THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.F290L|THADA_ENST00000403856.1_Missense_Mutation_p.F290L|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000402360.2_Missense_Mutation_p.F290L|THADA_ENST00000405975.2_Missense_Mutation_p.F290L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	290										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCTGCTCATAAACCACTCGG	0.478											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(868-870)ttT>ttA		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							28	29	29					2																	43804328		1971	4170	6141	SO:0001583	missense	63892						binding	g.chr2:43804328A>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.870T>A	2.37:g.43804328A>T	ENSP00000385995:p.Phe290Leu		OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	THADA_uc002rsx.4_Missense_Mutation_p.F290L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.4_Missense_Mutation_p.F290L|THADA_uc002rtd.3_Missense_Mutation_p.F290L	p.F290L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			9	1222	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	290					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.870T>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	1.953	-0.440644	0.04636	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.27104	3.13;3.13;1.76;1.74;1.69	5.28	-0.77	0.11005	.	0.419335	0.26180	N	0.025874	T	0.11965	0.0291	N	0.04705	-0.18	0.80722	D	1	B;B;B;B	0.20671	0.047;0.011;0.008;0.007	B;B;B;B	0.21708	0.036;0.016;0.023;0.007	T	0.11275	-1.0594	10	0.36615	T	0.2	0.0339	12.8375	0.57782	0.3349:0.0:0.6651:0.0	.	290;290;290;290	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	L	290	ENSP00000386088:F290L;ENSP00000385995:F290L;ENSP00000385441:F290L;ENSP00000384266:F290L;ENSP00000385469:F290L	ENSP00000349464:F290L	F	-	3	2	THADA	43657832	0.000000	0.05858	0.039000	0.18376	0.129000	0.20672	-0.560000	0.05964	0.064000	0.16427	0.459000	0.35465	TTT		0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		T	43804328	A	T	43804328	3	4	13	1	0	0	0	0	1	0	0	0	15837	359	13	5	5107	5	THADA	2	43804328	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	14645868	43804328	199395045	8	896											
SLC3A1	6519	broad.mit.edu	37	chr2	44528234	44528234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttccggcagaccatGgaccaatacagcacggagcc	11	4	11	15	3	0	1	0	0	0	1	1	3	1	3	4	3	4	4	4	3	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:44528234G>C	ENST00000260649.6	+	6	1180	c.1104G>C	c.(1102-1104)atG>atC	p.M368I	SLC3A1_ENST00000409229.3_Missense_Mutation_p.M368I|SLC3A1_ENST00000410056.3_Missense_Mutation_p.M368I|SLC3A1_ENST00000409387.1_Missense_Mutation_p.M368I|SLC3A1_ENST00000409380.1_Missense_Mutation_p.M90I|SLC3A1_ENST00000409741.1_Missense_Mutation_p.M368I|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409294.1_Intron	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	368					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGCAGACCATGGACCAATACA	0.532																																						uc002ruc.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1102-1104)atG>atC		Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	L-Cystine(DB00138)						116	95	102					2																	44528234		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44528234G>C		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1104G>C	2.37:g.44528234G>C	ENSP00000260649:p.Met368Ile					SLC3A1_uc002rty.3_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.3_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.4_Missense_Mutation_p.M90I|SLC3A1_uc002rue.4_5'Flank	p.M368I	NM_000341	NP_000332	Q07837	SLC31_HUMAN			5	1182	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	368					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1104G>C	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789280	0.16258	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380	D;D;D;D;D;D	0.99399	-5.83;-5.83;-4.85;-5.83;-5.83;-5.83	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.115096	0.85682	D	0.000000	D	0.96999	0.9020	N	0.16130	0.375	0.80722	D	1	B;B;P;B;P	0.39576	0.195;0.195;0.679;0.3;0.478	B;B;B;B;B	0.36959	0.152;0.065;0.237;0.096;0.129	D	0.97250	0.9897	10	0.36615	T	0.2	-24.2402	12.7279	0.57180	0.0:0.0:0.8354:0.1646	.	368;368;368;368;368	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	I	368;368;304;368;368;368;368;90	ENSP00000260649:M368I;ENSP00000387308:M368I;ENSP00000387337:M368I;ENSP00000386954:M368I;ENSP00000386620:M368I;ENSP00000386709:M90I	ENSP00000260649:M368I	M	+	3	0	SLC3A1	44381738	1.000000	0.71417	0.063000	0.19743	0.016000	0.09150	5.526000	0.67116	2.460000	0.83146	0.467000	0.42956	ATG		0.532	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		C	44528234	G	C	44528234	3	2	13	1	0	0	0	0	1	0	0	0	14626	1348	47	5	1126	5	SLC3A1	2	44528234	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	723906	44528234	198671139	9	897											
ACVR1	90	broad.mit.edu	37	chr2	158626971	158626971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggagaagatcttcacGgcaacattctccccttgcca	10	8	10	13	2	3	2	1	0	2	2	4	4	3	3	3	3	2	1	3	3	2	3	rs182542928		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:158626971G>A	ENST00000263640.3	-	7	1128	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ACVR1_ENST00000434821.1_Silent_p.A233A|ACVR1_ENST00000410057.2_Silent_p.A233A|ACVR1_ENST00000409283.2_Silent_p.A233A	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGATCTTCACGGCAACATTCT	0.463													G|||	1	0.000199681	0	0.0014	5008	,	,		17486	0		0	False		,,,				2504	0					uc002tzn.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.(697-699)gcC>gcT		Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						166	133	144					2																	158626971		2203	4300	6503	SO:0001819	synonymous_variant	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158626971G>A		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.699C>T	2.37:g.158626971G>A						ACVR1_uc002tzm.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	p.A233A	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	6	1129	-			233			Protein kinase.			Silent	SNP	ENST00000263640.3	37	c.699C>T	CCDS2206.1																																																																																				0.463	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		A	158626971	G	A	158626971	2	1	13	1	0	0	0	0	0	0	0	1	220	1103	39	2		2	ACVR1	2	158626971	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	114098737	158626971	84572402	10	898											
TTN	7273	broad.mit.edu	37	chr2	179575886	179575886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccggtcagttttaaaaatAttgagtgtggctgtattgtc	9	16	10	6	1	1	1	1	1	0	0	3	1	2	1	1	2	0	3	1	2	5	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179575886A>C	ENST00000591111.1	-	95	27350	c.27126T>G	c.(27124-27126)aaT>aaG	p.N9042K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N9359K|TTN_ENST00000342992.6_Missense_Mutation_p.N8115K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13180	Ig-like 73.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAAAAATATTGAGTGTGG	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24343-24345)aaT>aaG		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							157	157	157					2																	179575886		1850	4096	5946	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575886A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27126T>G	2.37:g.179575886A>C	ENSP00000465570:p.Asn9042Lys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	p.N8115K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	24570	-			9042			Ig-like 63.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24345T>G		.	.	.	.	.	.	.	.	.	.	A	12.62	1.993510	0.35131	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.76	-3.77	0.04346	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31827	0.0809	N	0.03177	-0.4	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.01273	-1.1399	9	0.87932	D	0	.	5.8968	0.18943	0.2634:0.1695:0.4748:0.0922	.	9042	Q8WZ42	TITIN_HUMAN	K	8115	ENSP00000343764:N8115K	ENSP00000343764:N8115K	N	-	3	2	TTN	179284131	0.302000	0.24454	0.823000	0.32752	0.959000	0.62525	-0.111000	0.10807	-0.863000	0.04084	0.533000	0.62120	AAT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179575886	A	C	179575886	3	2	13	1	0	0	0	0	1	0	0	0	16732	446	16	5	76516	5	TTN	2	179575886	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	20948915	179575886	63623487	11	899											
NCKAP1	10787	broad.mit.edu	37	chr2	183860521	183860521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtcagctgaaagattccTtcgaggatataccatttgaa	12	12	9	8	1	1	3	1	2	0	1	3	5	2	4	2	2	2	1	2	2	4	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:183860521T>C	ENST00000361354.4	-	7	1021	c.649A>G	c.(649-651)Agg>Ggg	p.R217G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R223G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	217					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGATTCCTTCGAGGATAT	0.373																																						uc002upc.3																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(649-651)Agg>Ggg		Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.							108	108	108					2																	183860521		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183860521T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.649A>G	2.37:g.183860521T>C	ENSP00000355348:p.Arg217Gly					NCKAP1_uc002upb.3_Missense_Mutation_p.R223G	p.R217G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	1051	-			217					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.649A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792064	0.70452	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35973	1.28;1.28	5.84	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.966	T	0.68988	-0.5264	10	0.59425	D	0.04	-12.9357	13.2405	0.59994	0.0:0.0:0.3519:0.648	.	217;223	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	217;223	ENSP00000355348:R217G;ENSP00000354251:R223G	ENSP00000354251:R223G	R	-	1	2	NCKAP1	183568766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.913000	0.39956	1.019000	0.39547	0.528000	0.53228	AGG		0.373	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		C	183860521	T	C	183860521	3	2	13	1	0	0	0	0	1	0	0	0	10221	1608	56	4	2837	4	NCKAP1	2	183860521	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	4284635	183860521	59338852	12	900											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	13	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	25252591	209113112	34086261	13	901											
BCS1L	617	broad.mit.edu	37	chr2	219527689	219527689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttccaccgaggccCgcatcgtgttcatgaccacc	6	9	11	15	3	1	1	1	1	0	0	3	2	2	1	5	2	0	3	5	2	0	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219527689C>T	ENST00000431802.1	+	7	1672	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392109.1_Missense_Mutation_p.R325C|BCS1L_ENST00000359273.3_Missense_Mutation_p.R325C|BCS1L_ENST00000392110.2_Missense_Mutation_p.R325C|BCS1L_ENST00000439945.1_Missense_Mutation_p.R325C|BCS1L_ENST00000412366.1_Missense_Mutation_p.R325C|BCS1L_ENST00000392111.2_Missense_Mutation_p.R325C			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	325					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGGCCCGCATCGTGTT	0.577																																						uc002vip.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(973-975)Cgc>Tgc		Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.							115	101	105					2																	219527689		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527689C>T	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.973C>T	2.37:g.219527689C>T	ENSP00000413908:p.Arg325Cys					BCS1L_uc002viq.3_Missense_Mutation_p.R325C|BCS1L_uc010fvu.3_Missense_Mutation_p.R325C|BCS1L_uc010fvv.3_Missense_Mutation_p.R325C|BCS1L_uc002vis.3_Missense_Mutation_p.R325C|BCS1L_uc021vwz.1_Missense_Mutation_p.R325C	p.R325C	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1319	+		Renal(207;0.0474)	325					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.973C>T	CCDS2419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.529030|2.529030	0.44969|0.44969	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000426649|ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	.|D;D;D;D;D;D;D	.|0.92752	.|-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	4.94|4.94	4.06|4.06	0.47325|0.47325	.|ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96275|0.96275	0.8785|0.8785	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95801|0.95801	0.8833|0.8833	5|10	.|0.66056	.|D	.|0.02	-5.3098|-5.3098	8.5631|8.5631	0.33523|0.33523	0.1867:0.7312:0.0:0.0822|0.1867:0.7312:0.0:0.0822	.|.	.|325	.|Q9Y276	.|BCS1_HUMAN	L|C	106|325	.|ENSP00000352219:R325C;ENSP00000375957:R325C;ENSP00000375958:R325C;ENSP00000375959:R325C;ENSP00000406494:R325C;ENSP00000404999:R325C;ENSP00000413908:R325C	.|ENSP00000352219:R325C	P|R	+|+	2|1	0|0	BCS1L|BCS1L	219235933|219235933	0.370000|0.370000	0.25047|0.25047	0.967000|0.967000	0.41034|0.41034	0.186000|0.186000	0.23388|0.23388	1.137000|1.137000	0.31479|0.31479	1.302000|1.302000	0.44855|0.44855	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.577	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		T	219527689	C	T	219527689	3	4	13	1	0	0	0	0	1	0	0	0	1389	652	23	2	995	2	BCS1L	2	219527689	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	10414577	219527689	23671684	14	902											
ANO7	50636	broad.mit.edu	37	chr2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctggctgctctccagcGcctgtgccctggcccaggta	3	11	11	16	1	2	0	0	0	2	0	3	0	2	0	4	3	3	3	4	3	1	2	rs137878201		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:242147068G>A	ENST00000274979.8	+	11	1325	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	ANO7_ENST00000402430.3_Missense_Mutation_p.A407T	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	408					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTCCAGCGCCTGTGCCCT	0.622																																						uc002wax.2																			0		p.S407S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1222-1224)Gcc>Acc		Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	91	86	88		1222	-0.6	0.2	2	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANO7	NM_001001891.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	408/934	242147068	2,13004	2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242147068G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1222G>A	2.37:g.242147068G>A	ENSP00000274979:p.Ala408Thr						p.A408T	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			10	1325	+			408					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1222G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.355048	0.00217	2.27E-4	1.16E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.69175	-0.27;-0.38	2.49	-0.572	0.11745	.	0.903236	0.09240	N	0.829372	T	0.38904	0.1058	N	0.16266	0.395	0.24836	N	0.992495	B	0.28258	0.205	B	0.15870	0.014	T	0.25398	-1.0133	10	0.02654	T	1	.	6.5956	0.22672	0.5116:0.0:0.4884:0.0	.	408	Q6IWH7	ANO7_HUMAN	T	408;407	ENSP00000274979:A408T;ENSP00000385418:A407T	ENSP00000274979:A408T	A	+	1	0	ANO7	241795741	0.052000	0.20516	0.153000	0.22517	0.127000	0.20565	0.092000	0.15066	-0.049000	0.13379	0.313000	0.20887	GCC		0.622	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242147068	G	A	242147068	3	1	13	1	0	0	0	0	1	0	0	0	702	1087	38	1	1336	1	ANO7	2	242147068	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	22619379	242147068	1052305	15	903											
FGD5	152273	broad.mit.edu	37	chr3	14862089	14862089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaagaaaccggacctgAggcgggctcgtcagcccctg	8	5	13	15	3	1	3	1	2	0	1	2	4	1	4	5	3	2	1	5	3	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:14862089A>G	ENST00000285046.5	+	1	1621	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	FGD5_ENST00000543601.1_Missense_Mutation_p.E263G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	504					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCGGACCTGAGGCGGGCTCG	0.637																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1510-1512)gAg>gGg		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							30	33	32					3																	14862089		1910	4118	6028	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862089A>G	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1511A>G	3.37:g.14862089A>G	ENSP00000285046:p.Glu504Gly					FGD5_uc011avk.2_Missense_Mutation_p.E504G	p.E504G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1621	+			504					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1511A>G	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254128	0.80135	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.80393	-1.37;-1.22	4.86	4.86	0.63082	.	0.000000	0.56097	D	0.000040	D	0.88588	0.6477	M	0.73598	2.24	0.52501	D	0.999959	D;D	0.76494	0.996;0.999	D;D	0.70227	0.937;0.968	D	0.90122	0.4200	10	0.87932	D	0	-24.0922	14.4777	0.67559	1.0:0.0:0.0:0.0	.	263;504	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	G	504;263	ENSP00000285046:E504G;ENSP00000445949:E263G	ENSP00000285046:E504G	E	+	2	0	FGD5	14837093	1.000000	0.71417	0.246000	0.24233	0.006000	0.05464	5.416000	0.66417	1.830000	0.53286	0.528000	0.53228	GAG		0.637	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		G	14862089	A	G	14862089	3	3	13	1	0	0	0	0	1	0	0	0	5836	304	11	4	1513	4	FGD5	3	14862089	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08		14862089	183160341	16	904											
KALRN	8997	broad.mit.edu	37	chr3	124438292	124438292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcaagagctacattgTcaaccgggtgaaccaaggga	14	7	11	9	1	2	2	2	1	0	1	2	3	2	3	2	2	4	1	2	2	6	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:124438292T>C	ENST00000291478.5	+	27	4008	c.3845T>C	c.(3844-3846)gTc>gCc	p.V1282A	KALRN_ENST00000428018.2_Missense_Mutation_p.V1250A|KALRN_ENST00000360013.3_Missense_Mutation_p.V2979A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2978	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTACATTGTCAACCGGGTG	0.502																																						uc003ehg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(8935-8937)gTc>gCc		Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.							45	46	46					3																	124438292		2171	4265	6436	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124438292T>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3845T>C	3.37:g.124438292T>C	ENSP00000291478:p.Val1282Ala					KALRN_uc003ehk.3_Missense_Mutation_p.V1282A	p.V2979A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			59	9063	+			2978					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8936T>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.37|11.37	1.617987|1.617987	0.28801|0.28801	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478;ENST00000428018	.|T;T;T	.|0.59906	.|0.24;0.25;0.23	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.401360	.|0.25509	.|N	.|0.030199	T|T	0.40372|0.40372	0.1114|0.1114	N|N	0.22421|0.22421	0.69|0.69	0.29635|0.29635	N|N	0.845123|0.845123	.|B;B	.|0.20261	.|0.043;0.018	.|B;B	.|0.16722	.|0.016;0.01	T|T	0.20075|0.20075	-1.0286|-1.0286	5|10	.|0.02654	.|T	.|1	.|.	15.4077|15.4077	0.74893|0.74893	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1282;2978	.|C9JQ37;O60229	.|.;KALRN_HUMAN	P|A	2948|2979;1282;1250	.|ENSP00000353109:V2979A;ENSP00000291478:V1282A;ENSP00000402419:V1250A	.|ENSP00000291478:V1282A	S|V	+|+	1|2	0|0	KALRN|KALRN	125920982|125920982	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	2.316000|2.316000	0.43761|0.43761	2.225000|2.225000	0.72522|0.72522	0.460000|0.460000	0.39030|0.39030	TCA|GTC		0.502	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		C	124438292	T	C	124438292	3	2	13	1	0	0	0	0	1	0	0	0	7975	1667	58	4	9330	4	KALRN	3	124438292	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	109576203	124438292	73584138	17	905											
COL6A5	256076	broad.mit.edu	37	chr3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaccttttgtaaagaCggaagacaatggaagtgact	16	9	10	6	1	1	4	1	1	0	3	1	6	1	6	1	2	0	1	1	2	6	3	rs368040060	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:130174391C>T	ENST00000432398.2	+	37	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_ENST00000265379.6_Missense_Mutation_p.T2224M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2224	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T|||	2	0.000399361	8e-04	0	5008	,	,		15726	0		0	False		,,,				2504	0.001					uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6670-6672)aCg>aTg		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.		T	MET/THR	1,3613		0,1,1806	61	60	60		6671	3.2	0	3		60	0,8140		0,0,4070	no	missense	COL6A5	NM_153264.5	81	0,1,5876	TT,TC,CC		0.0,0.0277,0.0085	benign	2224/2527	130174391	1,11753	1807	4070	5877	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174391C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6671C>T	3.37:g.130174391C>T	ENSP00000390895:p.Thr2224Met					COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	p.T2224M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			36	7165	+			2224			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6671C>T		.	.	.	.	.	.	.	.	.	.	T	3.893	-0.023581	0.07634	2.77E-4	0.0	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.88741	-2.33;-2.42;-0.93;-0.81	4.38	3.19	0.36642	.	1.373030	0.05646	N	0.584364	T	0.72938	0.3523	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.61491	-0.7052	10	0.33141	T	0.24	.	4.6547	0.12611	0.0:0.102:0.1934:0.7046	.	2224;2224	A8TX70;A8TX70-2	CO6A5_HUMAN;.	M	2224;2224;167;59	ENSP00000390895:T2224M;ENSP00000265379:T2224M;ENSP00000362250:T167M;ENSP00000424968:T59M	ENSP00000265379:T2224M	T	+	2	0	COL6A5	131657081	0.004000	0.15560	0.007000	0.13788	0.002000	0.02628	0.609000	0.24238	0.287000	0.22375	-0.269000	0.10298	ACG		0.353	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130174391	C	T	130174391	3	4	13	1	0	0	0	0	1	0	0	0	3702	536	19	1	6813	1	COL6A5	3	130174391	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	5736099	130174391	67848039	18	906											
ATR	545	broad.mit.edu	37	chr3	142188272	142188272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaacaaaaacttcatcGtgagaatgacaaattcgaga	20	7	7	7	2	1	4	1	2	0	3	3	6	1	4	0	0	2	0	0	0	6	2	rs374110291		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:142188272G>A	ENST00000350721.4	-	38	6580	c.6459C>T	c.(6457-6459)caC>caT	p.H2153H	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.H2089H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2153	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACTTCATCGTGAGAATGAC	0.343								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6457-6459)caC>caT	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.		G		0,4406		0,0,2203	128	133	131		6459	-0.1	0.9	3		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATR	NM_001184.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2153/2645	142188272	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142188272G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6459C>T	3.37:g.142188272G>A						ATR_uc003euy.1_Silent_p.H39H	p.H2153H	NM_001184	NP_001175	Q13535	ATR_HUMAN			37	6581	-			2153			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.6459C>T	CCDS3124.1																																																																																				0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142188272	G	A	142188272	2	1	13	1	0	0	0	0	0	0	0	1	1204	1136	40	1		1	ATR	3	142188272	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	12013881	142188272	55834158	19	907											
ABCC5	10057	broad.mit.edu	37	chr3	183700632	183700632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgccatggttaggatggccCcccgcaagcggacaccggtt	8	7	13	13	3	0	0	0	0	0	0	0	2	0	2	5	5	2	3	5	5	2	2	rs201560541		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:183700632C>G	ENST00000334444.6	-	6	995	c.755G>C	c.(754-756)gGg>gCg	p.G252A	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.G252A	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	252	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TAGGATGGCCCCCCGCAAGCG	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		20073	0		0	False		,,,				2504	0					uc003fmg.3																			0		p.R251L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(754-756)gGg>gCg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.							92	93	93					3																	183700632		1948	4132	6080	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700632C>G	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.755G>C	3.37:g.183700632C>G	ENSP00000333926:p.Gly252Ala					ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.G252A	p.G252A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		5	920	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		252			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.755G>C	CCDS43176.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.92	2.974348	0.53720	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89196	-2.48;-2.48	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.86744	0.6006	L	0.35542	1.07	0.80722	D	1	P;P	0.46395	0.877;0.587	P;B	0.49953	0.627;0.241	T	0.82585	-0.0384	10	0.02654	T	1	-22.0699	19.4562	0.94892	0.0:1.0:0.0:0.0	.	252;252	Q86UX3;O15440	.;MRP5_HUMAN	A	252;188;252	ENSP00000333926:G252A;ENSP00000265586:G252A	ENSP00000265586:G252A	G	-	2	0	ABCC5	185183326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.585000	0.87301	0.655000	0.94253	GGG		0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		G	183700632	C	G	183700632	3	3	13	1	0	0	0	0	1	0	0	0	56	623	22	5	3658	5	ABCC5	3	183700632	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	41512360	183700632	14321798	20	908											
FAM193A	8603	broad.mit.edu	37	chr4	2698176	2698176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggaaagaggagcaaccTaaaaaaatggaccagatctc	20	4	10	7	0	1	3	0	0	1	3	2	6	1	6	2	3	2	1	2	3	7	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:2698176T>C	ENST00000324666.5	+	16	2841	c.2490T>C	c.(2488-2490)ccT>ccC	p.P830P	FAM193A_ENST00000502458.1_Silent_p.P852P|FAM193A_ENST00000545951.1_Silent_p.P830P|FAM193A_ENST00000505311.1_Silent_p.P830P|FAM193A_ENST00000382839.3_Silent_p.P830P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	830										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGAGCAACCTAAAAAAATGG	0.453																																						uc010ick.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(3088-3090)ccT>ccC		Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.							129	123	125					4																	2698176		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2698176T>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2490T>C	4.37:g.2698176T>C						FAM193A_uc003gfd.3_Silent_p.P830P|FAM193A_uc011bvm.2_Silent_p.P852P|FAM193A_uc011bvn.2_Silent_p.P830P|FAM193A_uc010icl.3_Silent_p.P830P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.P684P	p.P1030P	NM_003704	NP_003695	P78312	F193A_HUMAN			16	3091	+			830					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.3090T>C	CCDS58875.1																																																																																				0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		C	2698176	T	C	2698176	2	2	13	1	0	0	0	0	0	0	0	1	5524	1509	53	4		4	FAM193A	4	2698176	Silent	SNP	T	TCGA-06-0128-01A-01D-1490-08		2698176	188456100	21	909											
SLIT2	9353	broad.mit.edu	37	chr4	20547701	20547701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcccaaggaactctccaActacaaacatttaacactta	15	10	4	12	0	1	0	0	0	1	0	3	1	2	1	2	2	5	1	2	2	7	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:20547701A>G	ENST00000504154.1	+	22	2576	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Missense_Mutation_p.N767S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N779S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N771S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	775					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.N775S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACTCTCCAACTACAAACAT	0.358																																						uc003gpr.1																			1	Substitution - Missense(1)	p.N775S(2)	central_nervous_system(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2323-2325)aAc>aGc		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							114	106	109					4																	20547701		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20547701A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2324A>G	4.37:g.20547701A>G	ENSP00000422591:p.Asn775Ser					SLIT2_uc003gps.1_Missense_Mutation_p.N767S	p.N775S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			21	2528	+			775					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2324A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460669	0.26248	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.47	5.47	0.80525	.	0.081458	0.85682	D	0.000000	T	0.17916	0.0430	N	0.25992	0.78	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.06180	-1.0841	10	0.07990	T	0.79	.	15.8443	0.78876	1.0:0.0:0.0:0.0	.	767;775	O94813-3;O94813	.;SLIT2_HUMAN	S	767;775;779;771;771	ENSP00000427548:N767S;ENSP00000422591:N775S;ENSP00000273739:N779S;ENSP00000422261:N771S	ENSP00000273739:N779S	N	+	2	0	SLIT2	20156799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.851000	0.69481	2.194000	0.70268	0.528000	0.53228	AAC		0.358	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			G	20547701	A	G	20547701	3	3	13	1	0	0	0	0	1	0	0	0	14740	43	2	4	2410	4	SLIT2	4	20547701	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	17849525	20547701	170606575	22	910											
KDR	3791	broad.mit.edu	37	chr4	55958819	55958819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactccatgcccttagccaCttggaagctgtaacagatga	12	9	9	11	0	0	2	0	1	0	1	1	4	1	3	3	1	5	2	3	1	4	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:55958819C>T	ENST00000263923.4	-	22	3329	c.3034G>A	c.(3034-3036)Gtg>Atg	p.V1012M	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1012	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTTAGCCACTTGGAAGCTG	0.463			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3034-3036)Gtg>Atg		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						120	107	111					4																	55958819		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55958819C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3034G>A	4.37:g.55958819C>T	ENSP00000263923:p.Val1012Met	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.V1012M	p.V1012M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3336	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1012			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3034G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283315	0.95489	.	.	ENSG00000128052	ENST00000263923	D	0.90844	-2.74	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94531	0.7736	10	0.87932	D	0	.	20.3802	0.98930	0.0:1.0:0.0:0.0	.	1012	P35968	VGFR2_HUMAN	M	1012	ENSP00000263923:V1012M	ENSP00000263923:V1012M	V	-	1	0	KDR	55653576	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.822000	0.97130	0.563000	0.77884	GTG		0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55958819	C	T	55958819	3	4	13	1	0	0	0	0	1	0	0	0	8139	565	20	3	1072	3	KDR	4	55958819	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	35411118	55958819	135195457	23	911											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784796	68784796	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatgtcatccgaaaaggTgactctggaagagacctgca	12	8	12	9	2	2	2	1	1	1	1	3	5	3	3	2	2	1	2	2	2	4	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:68784796T>G	ENST00000334830.7	-	8	1602	c.856A>C	c.(856-858)Acc>Ccc	p.T286P	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.T283P|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.T282P			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	286	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCGAAAAGGTGACTCTGGAA	0.433																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(856-858)Acc>Ccc		Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.							167	172	170					4																	68784796		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784796T>G	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.856A>C	4.37:g.68784796T>G	ENSP00000334611:p.Thr286Pro					LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	p.T286P	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			7	977	-			286			Peptidase S1.		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.856A>C	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891604	0.33442	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.36	-3.87	0.04218	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.329724	0.25975	N	0.027117	T	0.78375	0.4273	N	0.10733	0.035	0.34500	D	0.705913	D;D	0.62365	0.984;0.991	P;P	0.57057	0.697;0.812	T	0.75701	-0.3226	10	0.36615	T	0.2	.	2.1539	0.03807	0.117:0.2679:0.1204:0.4947	.	283;286	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	P	282;286;283;250	ENSP00000426911:T282P;ENSP00000334611:T286P;ENSP00000379491:T283P;ENSP00000427621:T250P	ENSP00000334611:T286P	T	-	1	0	TMPRSS11A	68467391	0.078000	0.21339	0.042000	0.18584	0.052000	0.14988	-0.179000	0.09768	-0.966000	0.03587	0.482000	0.46254	ACC		0.433	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		G	68784796	T	G	68784796	3	3	13	1	0	0	0	0	1	0	0	0	16236	1696	59	5	421	5	TMPRSS11A	4	68784796	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	12825977	68784796	122369480	24	912											
UGT2B10	54569	broad.mit.edu	37	chr4	69874638	69874638	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgacattgtgttgaagTccactctaacagctgttccc	9	13	7	12	1	1	1	0	1	1	0	4	2	3	1	2	0	3	3	2	0	3	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:69874638T>C								UGT2A3 (57129 upstream) : UGT2B7 (42555 downstream)																							TGTGTTGAAGTCCACTCTAAC	0.403																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1111-1113)gAc>gGc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							187	145	157					4																	69874638		692	1589	2281	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69874638T>C																													4.37:g.69874638T>C						UGT2B10_uc011can.1_Missense_Mutation_p.D287G	p.D371G			P36537	UDB10_HUMAN			6	1238	-			415						Missense_Mutation	SNP		37	c.1112A>G																																																																																				0	0.403									C	69874638	T	C	69874638	1	2	13	0	1	0	0	0	0	0	0	0	16953	1667	58	4		4	UGT2B10	4	69874638	IGR	SNP	T	TCGA-06-0128-01A-01D-1490-08	1089842	69874638	121279638	25	913											
ADAM29	11086	broad.mit.edu	37	chr4	175897388	175897388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggattccattttggatGtcattggtgttaaggtgtta	8	18	12	3	0	1	0	1	0	0	0	2	2	2	2	1	4	0	2	1	4	3	7	rs148389603		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:175897388G>C	ENST00000359240.3	+	5	1382	c.712G>C	c.(712-714)Gtc>Ctc	p.V238L	ADAM29_ENST00000404450.4_Missense_Mutation_p.V238L|ADAM29_ENST00000514159.1_Missense_Mutation_p.V238L|ADAM29_ENST00000445694.1_Missense_Mutation_p.V238L|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	238	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATTTTGGATGTCATTGGTGT	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(712-714)Gtc>Ctc		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.		G	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL	0,4406		0,0,2203	102	106	105		712,712,712,712	-3.3	0	4	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	32,32,32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	238/821,238/821,238/821,238/821	175897388	1,13005	2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897388G>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.712G>C	4.37:g.175897388G>C	ENSP00000352177:p.Val238Leu					ADAM29_uc003iud.3_Missense_Mutation_p.V238L|ADAM29_uc010irr.3_Missense_Mutation_p.V238L|ADAM29_uc011cki.2_Missense_Mutation_p.V238L|ADAM29_uc021xuo.1_Missense_Mutation_p.V238L	p.V238L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1382	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	238			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.712G>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	6.094	0.385643	0.11524	0.0	1.16E-4	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	3.61	-3.34	0.04943	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.649523	0.11552	U	0.552737	T	0.07999	0.0200	L	0.50333	1.59	0.09310	N	1	B	0.30851	0.297	B	0.34452	0.183	T	0.34775	-0.9815	9	.	.	.	.	0.5684	0.00691	0.1993:0.2886:0.2196:0.2925	.	238	Q9UKF5	ADA29_HUMAN	L	238	ENSP00000352177:V238L;ENSP00000414544:V238L;ENSP00000384229:V238L;ENSP00000423517:V238L	.	V	+	1	0	ADAM29	176133963	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	-0.837000	0.04223	0.549000	0.68633	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				C	175897388	G	C	175897388	3	2	13	1	0	0	0	0	1	0	0	0	247	1377	48	5	714	5	ADAM29	4	175897388	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	106022750	175897388	15256888	26	914											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:67589138G>C	ENST00000521381.1	+	10	1742	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(11)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Cga		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						52	58	56					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>C	5.37:g.67589138G>C	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1706	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869926	0.91587	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67589138	G	C	67589138	3	2	13	1	0	0	0	0	1	0	0	0	11918	1233	43	5	1290	5	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		67589138	113326122	27	915											
PCDHA8	56140	broad.mit.edu	37	chr5	140222411	140222411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggcgggtgggcgagcGctcgctgtcgagctacattt	5	8	18	10	6	0	0	0	0	0	0	2	3	0	1	0	4	4	3	0	4	1	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140222411G>A	ENST00000531613.1	+	1	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R502H|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCTCGCTGTCG	0.672																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1504-1506)cGc>cAc		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							47	53	51					5																	140222411		2194	4262	6456	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222411G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1505G>A	5.37:g.140222411G>A	ENSP00000434655:p.Arg502His					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R502H	p.R502H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1505	+			516			Cadherin 5.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1505G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	6.113	0.389049	0.11581	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61040	0.14;0.14	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.36854	U	0.002376	T	0.51958	0.1705	L	0.39397	1.21	0.21822	N	0.999522	P;P	0.41748	0.682;0.761	P;P	0.46110	0.504;0.464	T	0.44574	-0.9319	10	0.40728	T	0.16	.	10.0129	0.41997	0.0:0.0:0.7978:0.2022	.	502;502	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	502	ENSP00000434655:R502H;ENSP00000367363:R502H	ENSP00000367363:R502H	R	+	2	0	PCDHA8	140202595	0.728000	0.28080	0.950000	0.38849	0.249000	0.25844	0.923000	0.28757	1.790000	0.52503	0.306000	0.20318	CGC		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222411	G	A	140222411	3	1	13	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1507	1	PCDHA8	5	140222411	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	72633273	140222411	40692849	28	916											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810513	140810513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagctcgcggagcgcGgagtccgcatcatccccaga	7	4	14	16	6	1	1	1	0	0	1	4	4	3	4	4	3	2	2	4	3	0	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140810513G>A	ENST00000252085.3	+	1	329	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGCGCGGAGTCCGCAT	0.652																																						uc003lkt.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(187-189)Gga>Aga		Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.							59	73	68					5																	140810513		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810513G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.187G>A	5.37:g.140810513G>A	ENSP00000252085:p.Gly63Arg					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.G63R	p.G63R	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	356	+			63			Cadherin 1.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.187G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	0.025	-1.379636	0.01204	.	.	ENSG00000253159	ENST00000252085	T	0.28069	1.63	5.55	2.65	0.31530	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.17916	0.0430	L	0.39085	1.19	0.09310	N	1	P;B	0.35107	0.484;0.297	B;B	0.34180	0.167;0.177	T	0.17198	-1.0377	9	0.06099	T	0.92	.	5.3262	0.15908	0.2988:0.1395:0.5617:0.0	.	63;63	O60330-2;O60330	.;PCDGC_HUMAN	R	63	ENSP00000252085:G63R	ENSP00000252085:G63R	G	+	1	0	PCDHGA12	140790697	0.007000	0.16637	0.953000	0.39169	0.234000	0.25298	0.960000	0.29253	0.718000	0.32166	0.555000	0.69702	GGA		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		A	140810513	G	A	140810513	3	1	13	1	0	0	0	0	1	0	0	0	11553	1117	39	2	189	2	PCDHGA12	5	140810513	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	588102	140810513	40104747	29	917											
ODZ2	57451	broad.mit.edu	37	chr5	167553791	167553791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactgtggcactcacggcGtctgcatcgggggagcctgc	6	8	15	12	3	2	1	1	0	1	1	3	2	2	2	1	4	3	2	1	4	1	1	rs374882111	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:167553791G>A	ENST00000518659.1	+	12	2281	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	TENM2_ENST00000545108.1_Missense_Mutation_p.V748I|TENM2_ENST00000520394.1_Missense_Mutation_p.V516I|TENM2_ENST00000519204.1_Missense_Mutation_p.V627I|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.V581I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	748	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACTCACGGCGTCTGCATCGG	0.587													G|||	2	0.000399361	0	0	5008	,	,		14838	0.002		0	False		,,,				2504	0					uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(2242-2244)Gtc>Atc		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							37	43	41					5																	167553791		2026	4175	6201	SO:0001583	missense	57451							g.chr5:167553791G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2242G>A	5.37:g.167553791G>A	ENSP00000429430:p.Val748Ile					ODZ2_uc003lzr.4_Missense_Mutation_p.V516I|ODZ2_uc003lzt.4_Missense_Mutation_p.V112I|ODZ2_uc010jje.3_Missense_Mutation_p.V19I	p.V748I	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	11	2242	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2242G>A		.	.	.	.	.	.	.	.	.	.	G	16.84	3.235032	0.58886	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	5.5	5.5	0.81552	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.16037	0.36	0.48288	D	0.999623	P;P;P	0.50710	0.703;0.579;0.938	B;B;B	0.42062	0.107;0.05;0.374	T	0.63323	-0.6663	10	0.25106	T	0.35	.	19.7664	0.96346	0.0:0.0:1.0:0.0	.	748;748;516	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	748;748;627;516;581	ENSP00000429430:V748I;ENSP00000438635:V748I;ENSP00000428964:V627I;ENSP00000427874:V516I;ENSP00000384905:V581I	ENSP00000384905:V581I	V	+	1	0	ODZ2	167486369	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.791000	0.85805	2.735000	0.93741	0.655000	0.94253	GTC		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167553791	G	A	167553791	3	1	13	1	0	0	0	0	1	0	0	0	10835	1145	40	1	2288	1	ODZ2	5	167553791	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	26743278	167553791	13361469	30	918											
PPIL6	285755	broad.mit.edu	37	chr6	109752491	109752491	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgcatcacccagaaactGaccattaacaaaagaaatca	20	6	4	11	0	2	3	2	1	0	2	2	3	2	3	2	0	3	1	2	0	6	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr6:109752491G>A	ENST00000521072.2	-	3	869	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	PPIL6_ENST00000424445.2_Nonsense_Mutation_p.Q65*|PPIL6_ENST00000524031.1_5'UTR|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Nonsense_Mutation_p.Q97*	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	97					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCCAGAAACTGACCATTAACA	0.403																																						uc010kdp.3																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(289-291)Cag>Tag		Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.							85	83	84					6																	109752491		2203	4300	6503	SO:0001587	stop_gained	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109752491G>A		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.289C>T	6.37:g.109752491G>A	ENSP00000427929:p.Gln97*					PPIL6_uc003ptg.4_Nonsense_Mutation_p.Q97*|PPIL6_uc021zdq.1_Non-coding_Transcript	p.Q97*	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	870	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	97					A9NIU0|A9NIU9|E7EX15	Nonsense_Mutation	SNP	ENST00000521072.2	37	c.289C>T	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.212468|7.212468	0.98139|0.98139	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	.|.	.|.	.|.	5.26|5.26	2.36|2.36	0.29203|0.29203	.|.	0.658068|.	0.14858|.	N|.	0.294235|.	.|T	.|0.34135	.|0.0887	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.11108	.|-1.0601	.|3	0.52906|.	T|.	0.07|.	-6.3865|-6.3865	10.0729|10.0729	0.42343|0.42343	0.0:0.1337:0.5893:0.2771|0.0:0.1337:0.5893:0.2771	.|.	.|.	.|.	.|.	X|L	65;97;97;54|36;44	.|.	ENSP00000411731:Q54X|.	Q|S	-|-	1|2	0|0	PPIL6|PPIL6	109859184|109859184	0.001000|0.001000	0.12720|0.12720	0.039000|0.039000	0.18376|0.18376	0.193000|0.193000	0.23685|0.23685	0.575000|0.575000	0.23729|0.23729	0.165000|0.165000	0.19558|0.19558	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.403	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			A	109752491	G	A	109752491	4	1	13	1	0	0	0	0	0	1	0	0	12331	1299	45	3	752	3	PPIL6	6	109752491	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		109752491	61362576	31	919											
HOXA2	3199	broad.mit.edu	37	chr7	27142031	27142031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaactttgaaatgtaTcagcgacagggggaaaagat	15	10	12	4	1	1	4	1	3	0	1	1	6	1	5	0	2	2	1	0	2	5	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:27142031T>A	ENST00000222718.5	-	1	399	c.89A>T	c.(88-90)gAt>gTt	p.D30V	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	30					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTGAAATGTATCAGCGACAGG	0.493																																						uc003syh.3																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						c.(88-90)gAt>gTt		Homo sapiens homeobox A2 (HOXA2), mRNA.							116	125	122					7																	27142031		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27142031T>A		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.89A>T	7.37:g.27142031T>A	ENSP00000222718:p.Asp30Val					HOXA2_uc022aaq.1_Missense_Mutation_p.D30V	p.D30V	NM_006735	NP_006726	O43364	HXA2_HUMAN			0	364	-			30					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.89A>T	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099369	0.56183	.	.	ENSG00000105996	ENST00000222718	T	0.09817	2.94	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.87547	2.89	0.80722	D	1	D	0.59357	0.985	D	0.63703	0.917	T	0.39313	-0.9620	10	0.87932	D	0	.	15.3211	0.74124	0.0:0.0:0.0:1.0	.	30	O43364	HXA2_HUMAN	V	30	ENSP00000222718:D30V	ENSP00000222718:D30V	D	-	2	0	HOXA2	27108556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.869000	0.69613	2.019000	0.59389	0.482000	0.46254	GAT		0.493	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			A	27142031	T	A	27142031	3	1	13	1	0	0	0	0	1	0	0	0	7292	1435	50	5	1049	5	HOXA2	7	27142031	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		27142031	131996632	32	920											
GCK	2645	broad.mit.edu	37	chr7	44189583	44189583	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacccctctccgtttgatAgcgtctcgcagaagccccac	7	9	7	18	3	3	2	1	1	2	1	5	2	3	2	5	0	2	2	5	0	2	2	rs377355289		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:44189583A>G	ENST00000403799.3	-	5	1033	c.564T>C	c.(562-564)gcT>gcC	p.A188A	GCK_ENST00000437084.1_Silent_p.A171A|GCK_ENST00000395796.3_Silent_p.A187A|GCK_ENST00000345378.2_Silent_p.A189A	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	188	Hexokinase type-1.		A -> T (in MODY2; large increase in Km for glucose). {ECO:0000269|PubMed:8325892}.		calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCGTTTGATAGCGTCTCGCA	0.632																																						uc003tkl.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37	GRCh37	CP025147	GCK	X		c.(562-564)gcT>gcC		Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.		A	,,	1,4405	2.1+/-5.4	0,1,2202	103	92	96		564,567,561	1.5	1	7		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GCK	NM_000162.3,NM_033507.1,NM_033508.1	,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,,	188/466,189/467,187/465	44189583	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44189583A>G	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.564T>C	7.37:g.44189583A>G						GCK_uc003tkj.1_Silent_p.A187A|GCK_uc003tkk.1_Silent_p.A189A	p.A188A	NM_000162	NP_000153	P35557	HXK4_HUMAN			4	1034	-			188		A -> T (in MODY2; large increase in Km for glucose).			A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.564T>C	CCDS5479.1																																																																																				0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			G	44189583	A	G	44189583	2	3	13	1	0	0	0	0	0	0	0	1	6293	407	15	4		4	GCK	7	44189583	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	17047552	44189583	114949080	33	921											
MAGI2	9863	broad.mit.edu	37	chr7	77797372	77797372	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagctcatctcctgggtgAaggcggccatctctgtcggc	7	9	12	13	2	3	1	1	1	2	0	6	1	3	1	2	4	1	1	2	4	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:77797372A>T	ENST00000354212.4	-	15	2710	c.2457T>A	c.(2455-2457)ctT>ctA	p.L819L	MAGI2_ENST00000419488.1_Silent_p.L805L|MAGI2_ENST00000522391.1_Silent_p.L819L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	819	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCCTGGGTGAAGGCGGCCAT	0.517																																						uc003ugx.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2455-2457)ctT>ctA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.							122	112	116					7																	77797372		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797372A>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2457T>A	7.37:g.77797372A>T						MAGI2_uc003ugy.3_Silent_p.L805L|MAGI2_uc010ldx.1_Silent_p.L412L	p.L819L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			14	2711	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	819			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2457T>A	CCDS5594.1																																																																																				0.517	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77797372	A	T	77797372	2	4	13	1	0	0	0	0	0	0	0	1	9191	233	9	5		5	MAGI2	7	77797372	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	33607789	77797372	81341291	34	922											
SAMD9L	219285	broad.mit.edu	37	chr7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagaagatccacgggcggGcaaaaaccttcttgatgacc	13	7	11	10	2	1	5	0	3	1	2	2	5	2	5	3	2	1	1	3	2	4	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:92763379G>A	ENST00000318238.4	-	5	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	636					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398																																						uc003umh.1																			0		p.P636P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1906-1908)Ccc>Tcc		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							85	87	87					7																	92763379		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763379G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1906C>T	7.37:g.92763379G>A	ENSP00000326247:p.Pro636Ser					SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P636S	p.P636S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	3122	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		636					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1906C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582453	0.65992	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38887	1.11;1.11;1.11	4.86	3.98	0.46160	.	0.076822	0.50627	N	0.000101	T	0.54902	0.1887	M	0.69823	2.125	0.46701	D	0.999167	D	0.67145	0.996	P	0.54924	0.764	T	0.61598	-0.7030	10	0.87932	D	0	-4.6903	12.8163	0.57667	0.0802:0.0:0.9198:0.0	.	636	Q8IVG5	SAM9L_HUMAN	S	636	ENSP00000326247:P636S;ENSP00000405760:P636S;ENSP00000408796:P636S	ENSP00000326247:P636S	P	-	1	0	SAMD9L	92601315	1.000000	0.71417	0.992000	0.48379	0.755000	0.42902	5.258000	0.65479	1.266000	0.44231	0.467000	0.42956	CCC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		A	92763379	G	A	92763379	3	1	13	1	0	0	0	0	1	0	0	0	13827	1203	42	3	2852	3	SAMD9L	7	92763379	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	14966007	92763379	66375284	35	923											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519285	113519285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaaacatttccagttCttgatgaacaaacttgacca	14	12	4	11	0	2	3	1	3	1	0	4	3	4	3	3	0	3	1	3	0	4	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:113519285C>A	ENST00000284601.3	-	4	1930	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	621					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCCAGTTCTTGATGAACA	0.383																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1861-1863)aGa>aTa		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							94	92	92					7																	113519285		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519285C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1862G>T	7.37:g.113519285C>A	ENSP00000284601:p.Arg621Ile						p.R621I	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	1893	-			621					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1862G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098509	0.20552	.	.	ENSG00000154415	ENST00000284601	T	0.19250	2.16	6.02	-1.78	0.07957	.	0.538685	0.18505	N	0.139238	T	0.15782	0.0380	M	0.67953	2.075	0.19300	N	0.999976	P	0.37398	0.593	B	0.34038	0.174	T	0.13548	-1.0505	10	0.66056	D	0.02	-0.4639	2.544	0.04732	0.1062:0.2339:0.1966:0.4633	.	621	Q16821	PPR3A_HUMAN	I	621	ENSP00000284601:R621I	ENSP00000284601:R621I	R	-	2	0	PPP1R3A	113306521	0.158000	0.22850	0.683000	0.30040	0.044000	0.14063	0.130000	0.15850	-0.035000	0.13691	-0.727000	0.03589	AGA		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113519285	C	A	113519285	3	1	13	1	0	0	0	0	1	0	0	0	12371	913	32	5	1510	5	PPP1R3A	7	113519285	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	20755906	113519285	45619378	36	924											
TUSC3	7991	broad.mit.edu	37	chr8	15519674	15519674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttttgcagattcgggttTtcagaccacccaactactct	9	14	6	12	1	2	2	1	0	1	2	3	2	2	2	2	1	3	2	2	1	2	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr8:15519674T>C	ENST00000503731.1	+	5	725	c.577T>C	c.(577-579)Ttc>Ctc	p.F193L	TUSC3_ENST00000506802.1_Missense_Mutation_p.F193L|TUSC3_ENST00000382020.4_Missense_Mutation_p.F193L|TUSC3_ENST00000509380.1_Missense_Mutation_p.F193L|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	193					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F193L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATTCGGGTTTTCAGACCACC	0.353																																						uc003wwt.3																			1	Substitution - Missense(1)	p.F193L(2)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(577-579)Ttc>Ctc		Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.							139	138	138					8																	15519674		2203	4299	6502	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15519674T>C	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.577T>C	8.37:g.15519674T>C	ENSP00000424544:p.Phe193Leu					TUSC3_uc003wwu.3_Missense_Mutation_p.F193L	p.F193L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	4	921	+			193					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.577T>C	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626729	0.46840	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	L	0.42581	1.335	0.53005	D	0.999963	P;B;P;B;B;P	0.52577	0.726;0.425;0.954;0.044;0.425;0.509	P;B;D;B;B;B	0.66351	0.891;0.221;0.943;0.034;0.3;0.133	T	0.76366	-0.2985	10	0.12430	T	0.62	-16.4715	14.2661	0.66118	0.0:0.0:0.0:1.0	.	193;193;193;193;193;193	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	L	193	ENSP00000371450:F193L;ENSP00000425777:F193L;ENSP00000423426:F193L;ENSP00000424544:F193L	ENSP00000221167:F193L	F	+	1	0	TUSC3	15564045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.850000	0.69473	2.042000	0.60477	0.533000	0.62120	TTC		0.353	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		C	15519674	T	C	15519674	3	2	13	1	0	0	0	0	1	0	0	0	16775	1841	64	4	595	4	TUSC3	8	15519674	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		15519674	130844348	37	925											
LINGO2	158038	broad.mit.edu	37	chr9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T																															ttcttttcacggattttgggINSttttttgcaggtaaagtaaa																								rs199551773|rs377599950		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49																																						uc003zqv.1																			2	Substitution - Missense(2)	p.P410T(3)	prostate(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1225-1230)aaacccfs		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.																																				SO:0001589	frameshift_variant	158038					integral to membrane		g.chr9:27949442_27949443insT	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228dupA	9.37:g.27949448_27949448dupT	ENSP00000369328:p.Pro410fs					LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqu.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc022bfc.1_Frame_Shift_Ins_p.K409fs	p.K409fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1877_1878	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	409			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Ins	INS	ENST00000379992.2	37	c.1227_1228insA	CCDS6524.1																																																																																				0.49	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		T	27949443	-	T	27949442	7	5	13	1	0	1	1	0	0	0	0	0	8815	1261	44	0	596	0	LINGO2	9	27949442	Frame_Shift_Ins	INS	-	TCGA-06-0128-01A-01D-1490-08		27949442	113263989	38	926											
TRIM32	22954	broad.mit.edu	37	chr9	119461599	119461599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgatgctgagggcacCgtctacttcacccagggctt	7	10	11	13	1	2	2	1	2	1	0	2	2	2	2	3	2	2	3	3	2	1	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:119461599C>T	ENST00000450136.1	+	2	1739	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Silent_p.T526T|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	526					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T526T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGAGGGCACCGTCTACTTCA	0.542																																					Esophageal Squamous(92;212 1916 19711 26951)	uc022bmo.1																			1	Substitution - coding silent(1)	p.T526T(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1576-1578)acC>acT		Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.							71	62	65					9																	119461599		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461599C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1578C>T	9.37:g.119461599C>T						ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Silent_p.T526T|TRIM32_uc004bjx.2_Silent_p.T526T	p.T526T	NM_012210	NP_036342	Q13049	TRI32_HUMAN			0	1578	+			526					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1578C>T	CCDS6817.1																																																																																				0.542	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		T	119461599	C	T	119461599	2	4	13	1	0	0	0	0	0	0	0	1	16503	639	23	2		2	TRIM32	9	119461599	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08	91512157	119461599	21751832	39	927											
GARNL3	84253	broad.mit.edu	37	chr9	130155514	130155514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctttctccgatgaagAcattatagacttgaagtaac	13	11	8	9	2	1	4	0	2	1	2	2	5	1	4	1	1	1	2	1	1	5	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:130155514A>G	ENST00000373387.4	+	28	3375	c.3023A>G	c.(3022-3024)gAc>gGc	p.D1008G	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D986G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1008					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCCGATGAAGACATTATAGAC	0.483																																						uc011mae.2																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(3022-3024)gAc>gGc		Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.							66	76	72					9																	130155514		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130155514A>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3023A>G	9.37:g.130155514A>G	ENSP00000362485:p.Asp1008Gly					GARNL3_uc011mad.2_Missense_Mutation_p.D986G|GARNL3_uc010mxi.3_Missense_Mutation_p.D238G	p.D1008G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			27	3424	+			1008					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.3023A>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080975	0.55753	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.89875	-2.57;-2.58	5.58	5.58	0.84498	.	0.208088	0.48286	D	0.000192	D	0.82770	0.5109	L	0.27053	0.805	0.80722	D	1	B;B	0.23316	0.083;0.083	B;B	0.27262	0.078;0.078	T	0.77981	-0.2383	9	.	.	.	.	14.8784	0.70513	1.0:0.0:0.0:0.0	.	1008;986	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	G	986;1008	ENSP00000396205:D986G;ENSP00000362485:D1008G	.	D	+	2	0	GARNL3	129195335	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	5.956000	0.70315	2.239000	0.73571	0.533000	0.62120	GAC		0.483	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		G	130155514	A	G	130155514	3	3	13	1	0	0	0	0	1	0	0	0	6241	275	10	4	3133	4	GARNL3	9	130155514	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	10693915	130155514	11057917	40	928											
RRP8	23378	broad.mit.edu	37	chr11	6622635	6622635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgggaacaggagacacctCtgtcttctctgtgggggcct	6	10	13	12	0	3	1	0	0	3	1	4	3	3	2	3	4	1	0	3	4	1	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:6622635C>G	ENST00000254605.6	-	3	778	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ILK_ENST00000528995.1_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000420936.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	221					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGAGACACCTCTGTCTTCTCT	0.607																																						uc001med.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(661-663)Gag>Cag		Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.							37	39	39					11																	6622635		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622635C>G	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.661G>C	11.37:g.6622635C>G	ENSP00000254605:p.Glu221Gln					ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	p.E221Q	NM_015324	NP_056139	O43159	RRP8_HUMAN			2	809	-			221					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.661G>C	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081791	0.36758	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.50277	1.42;0.75	5.85	5.85	0.93711	.	0.415853	0.26038	N	0.026720	T	0.37679	0.1012	L	0.34521	1.04	0.80722	D	1	P	0.50710	0.938	B	0.43508	0.422	T	0.07712	-1.0758	10	0.27082	T	0.32	-4.5413	11.1012	0.48174	0.0:0.916:0.0:0.084	.	221	O43159	RRP8_HUMAN	Q	221	ENSP00000254605:E221Q;ENSP00000436246:E221Q	ENSP00000254605:E221Q	E	-	1	0	RRP8	6579211	0.986000	0.35501	0.994000	0.49952	0.185000	0.23345	5.292000	0.65673	2.773000	0.95371	0.650000	0.86243	GAG		0.607	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		G	6622635	C	G	6622635	3	3	13	1	0	0	0	0	1	0	0	0	13690	922	32	5	729	5	RRP8	11	6622635	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		6622635	128383881	41	929											
OR8J3	81168	broad.mit.edu	37	chr11	55904564	55904564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactagaactgtaatcaTggaaaaaaccaaatttgttg	18	11	7	5	0	1	2	1	0	0	2	1	3	1	3	1	1	3	2	1	1	8	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:55904564T>C	ENST00000301529.1	-	1	630	c.631A>G	c.(631-633)Atg>Gtg	p.M211V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACTGTAATCATGGAAAAAACC	0.358																																						uc010riz.2																			0		p.M211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(631-633)Atg>Gtg		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.							96	100	99					11																	55904564		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904564T>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.631A>G	11.37:g.55904564T>C	ENSP00000301529:p.Met211Val						p.M211V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	631	-	Esophageal squamous(21;0.00693)		211					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.631A>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	6.408	0.443373	0.12164	.	.	ENSG00000167822	ENST00000301529	T	0.35421	1.31	3.27	-6.55	0.01854	GPCR, rhodopsin-like superfamily (1);	0.538666	0.19959	N	0.102250	T	0.07458	0.0188	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.15867	-1.0422	10	0.28530	T	0.3	.	1.9037	0.03273	0.3729:0.0971:0.3582:0.1717	.	211	Q8NGG0	OR8J3_HUMAN	V	211	ENSP00000301529:M211V	ENSP00000301529:M211V	M	-	1	0	OR8J3	55661140	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-3.549000	0.00434	-1.108000	0.03000	0.247000	0.18012	ATG		0.358	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		C	55904564	T	C	55904564	3	2	13	1	0	0	0	0	1	0	0	0	11242	1464	51	4	318	4	OR8J3	11	55904564	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	49281929	55904564	79101952	42	930											
MS4A14	84689	broad.mit.edu	37	chr11	60164186	60164186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggagagccaagagtcttGggggtaagtcctctccagtc	10	8	14	9	0	2	2	0	0	2	2	5	3	3	2	3	3	1	1	3	3	3	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:60164186G>T	ENST00000300187.6	+	1	412	c.135G>T	c.(133-135)ttG>ttT	p.L45F	MS4A14_ENST00000395005.2_Missense_Mutation_p.L45F|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.L45F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	45						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAAGAGTCTTGGGGGTAAGTC	0.423																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(133-135)ttG>ttT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							66	58	61					11																	60164186		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60164186G>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.135G>T	11.37:g.60164186G>T	ENSP00000300187:p.Leu45Phe					MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.L45F|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	p.L45F	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			0	700	+			45					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.135G>T	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.028113|3.028113	0.54790|0.54790	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783|ENST00000534688	T;T;T;T|.	0.56275|.	3.22;0.47;3.22;3.22|.	4.58|4.58	0.586|0.586	0.17434|0.17434	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.62405|0.62405	0.2425|0.2425	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.74348|.	0.971;0.983|.	T|T	0.57051|0.57051	-0.7877|-0.7877	10|5	0.87932|.	D|.	0|.	-7.6901|-7.6901	6.5071|6.5071	0.22202|0.22202	0.4264:0.0:0.5736:0.0|0.4264:0.0:0.5736:0.0	.|.	45;45|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	F|L	45|4	ENSP00000300187:L45F;ENSP00000378453:L45F;ENSP00000435764:L45F;ENSP00000433761:L45F|.	ENSP00000300187:L45F|.	L|W	+|+	3|2	2|0	MS4A14|MS4A14	59920762|59920762	0.992000|0.992000	0.36948|0.36948	0.585000|0.585000	0.28666|0.28666	0.917000|0.917000	0.54804|0.54804	-0.019000|-0.019000	0.12546|0.12546	-0.048000|-0.048000	0.13401|0.13401	-0.140000|-0.140000	0.14226|0.14226	TTG|TGG		0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			T	60164186	G	T	60164186	3	4	13	1	0	0	0	0	1	0	0	0	9858	1339	47	5	137	5	MS4A14	11	60164186	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	4259622	60164186	74842330	43	931											
TPCN2	219931	broad.mit.edu	37	chr11	68822263	68822263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattactcgaacgtatgccaAcggtgagaacgcacccatgt	12	9	9	11	4	0	1	0	1	0	1	1	3	0	1	2	1	5	2	2	1	6	3	rs142314553		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:68822263A>G	ENST00000294309.3	+	3	350	c.249A>G	c.(247-249)caA>caG	p.Q83Q	TPCN2_ENST00000542467.1_Silent_p.Q83Q	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	83					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTATGCCAACGGTGAGAAC	0.602																																						uc001oos.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(247-249)caA>caG		Homo sapiens two pore segment channel 2 (TPCN2), mRNA.		A		0,4400		0,0,2200	111	75	87		249	-2.9	1	11	dbSNP_134	87	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	TPCN2	NM_139075.3		0,1,6493	GG,GA,AA		0.0116,0.0,0.0077		83/753	68822263	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822263A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.249A>G	11.37:g.68822263A>G						TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.Q83Q|TPCN2_uc021qmo.1_5'Flank	p.Q83Q	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		2	365	+			83					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.249A>G	CCDS8189.1																																																																																				0.602	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		G	68822263	A	G	68822263	2	3	13	1	0	0	0	0	0	0	0	1	16393	40	2	4		4	TPCN2	11	68822263	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	8658077	68822263	66184253	44	932											
MFRP	83552	broad.mit.edu	37	chr11	119212361	119212361	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagactggcactggtgcTccgcttcctggcagacagag	7	7	14	13	1	0	3	0	0	0	3	2	3	2	3	3	4	1	4	3	4	0	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:119212361T>G	ENST00000530681.1	-	13	1781	c.1637A>C	c.(1636-1638)gAg>gCg	p.E546A	MFRP_ENST00000360167.4_Missense_Mutation_p.E428A|MFRP_ENST00000555262.1_Missense_Mutation_p.E546A|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.E546A|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000525657.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	546	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCACTGGTGCTCCGCTTCCTG	0.647																																						uc010rzg.1																			0				endometrium(1)|lung(2)	3						c.(1282-1284)gAg>gCg		Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.							30	35	34					11																	119212361		2199	4295	6494	SO:0001583	missense	83552				embryo development	integral to membrane		g.chr11:119212361T>G	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1637A>C	11.37:g.119212361T>G	ENSP00000456533:p.Glu546Ala					C1QTNF5_uc001pwj.2_5'UTR	p.E428A			Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	9	1443	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	546			LDL-receptor class A 2.		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1283A>C	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631882	0.87660	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.76316	-1.01;-1.01;-1.01	4.36	4.36	0.52297	Frizzled domain (4);	0.000000	0.85682	D	0.000000	D	0.82953	0.5149	L	0.55834	1.745	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79196	-0.1903	10	0.14252	T	0.57	-19.2897	13.4108	0.60942	0.0:0.0:0.0:1.0	.	428;546	B4DHN8;Q9BY79	.;MFRP_HUMAN	A	546;546;428	ENSP00000450509:E546A;ENSP00000391664:E546A;ENSP00000353291:E428A	ENSP00000353291:E428A	E	-	2	0	MFRP	118717571	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	5.503000	0.66962	1.825000	0.53177	0.459000	0.35465	GAG		0.647	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		G	119212361	T	G	119212361	3	3	13	1	0	0	0	0	1	0	0	0	9526	1551	54	5	106	5	MFRP	11	119212361	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	50390098	119212361	15794155	45	933											
OR10S1	219873	broad.mit.edu	37	chr11	123847740	123847740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggcagcctgcagccAcgatgccaatgctggcaagc	10	5	14	12	1	0	1	0	1	0	0	0	3	0	2	3	3	6	4	3	3	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:123847740A>G	ENST00000531945.1	-	1	748	c.659T>C	c.(658-660)gTg>gCg	p.V220A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCTGCAGCCACGATGCCAAT	0.562																																						uc001pzm.1																			0		p.V220M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(658-660)gTg>gCg		Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.							59	52	54					11																	123847740		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847740A>G	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.659T>C	11.37:g.123847740A>G	ENSP00000431914:p.Val220Ala						p.V220A	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	659	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	220					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.659T>C	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354971	0.41700	.	.	ENSG00000196248	ENST00000531945	T	0.00152	8.66	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	U	0.002022	T	0.00210	0.0006	M	0.64567	1.98	0.09310	N	1	P	0.35192	0.489	B	0.34138	0.176	T	0.44498	-0.9324	10	0.62326	D	0.03	-15.589	14.252	0.66026	1.0:0.0:0.0:0.0	.	220	Q8NGN2	O10S1_HUMAN	A	220	ENSP00000431914:V220A	ENSP00000431914:V220A	V	-	2	0	OR10S1	123352950	0.001000	0.12720	0.889000	0.34880	0.396000	0.30629	1.536000	0.36072	2.039000	0.60335	0.533000	0.62120	GTG		0.562	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		G	123847740	A	G	123847740	3	3	13	1	0	0	0	0	1	0	0	0	10918	159	6	4	340	4	OR10S1	11	123847740	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	4635379	123847740	11158776	46	934											
APLP2	334	broad.mit.edu	37	chr11	129999095	129999095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttgcagtctgacccGccacgggtgagtcctgcccc	4	8	12	17	2	1	2	0	2	1	0	2	2	2	2	6	1	3	2	6	1	0	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:129999095G>A	ENST00000263574.5	+	10	1521	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	APLP2_ENST00000528499.1_Silent_p.P427P|APLP2_ENST00000338167.5_Silent_p.P483P|APLP2_ENST00000543137.1_Silent_p.P390P|APLP2_ENST00000539648.1_Silent_p.P271P|APLP2_ENST00000278756.7_Silent_p.P493P|APLP2_ENST00000345598.5_Silent_p.P254P	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	483					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGTCTGACCCGCCACGGGTGA	0.572																																						uc010sby.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1447-1449)ccG>ccA		Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.							82	78	79					11																	129999095		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999095G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1449G>A	11.37:g.129999095G>A						APLP2_uc001qfp.3_Silent_p.P483P|APLP2_uc001qfq.3_Silent_p.P427P|APLP2_uc010sbz.2_Silent_p.P271P|APLP2_uc001qfr.3_Silent_p.P249P|APLP2_uc001qfs.3_Silent_p.P254P|APLP2_uc021qsg.1_Silent_p.P493P|APLP2_uc001qfv.3_Silent_p.P374P	p.P483P	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	9	1606	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	483					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1449G>A	CCDS8486.1																																																																																				0.572	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		A	129999095	G	A	129999095	2	1	13	1	0	0	0	0	0	0	0	1	779	1074	38	1		1	APLP2	11	129999095	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	6151355	129999095	5007421	47	935											
ATN1	1822	broad.mit.edu	37	chr12	7045674	7045674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccactctttccctccccCaacaagcctctctgtctcca	6	10	2	23	0	3	0	0	0	3	0	7	0	5	0	7	0	2	0	7	0	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:7045674C>T	ENST00000356654.4	+	5	1481	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ATN1_ENST00000396684.2_Missense_Mutation_p.P415L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	415					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTCCCTCCCCCAACAAGCCTC	0.607													c|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					uc001qrw.1																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1243-1245)cCa>cTa		Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.							91	78	82					12																	7045674		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045674C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1244C>T	12.37:g.7045674C>T	ENSP00000349076:p.Pro415Leu					ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	p.P415L	NM_001007026	NP_001931	P54259	ATN1_HUMAN			4	1481	+			415					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1244C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	8.713	0.912479	0.17907	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.54675	0.56;0.56;0.56	3.88	2.97	0.34412	.	0.000000	0.33712	U	0.004623	T	0.40743	0.1129	L	0.36672	1.1	0.54753	D	0.999984	B;B	0.31989	0.35;0.043	B;B	0.34652	0.187;0.052	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.8233	0.23868	0.1763:0.7333:0.0:0.0905	.	415;415	Q86V38;P54259	.;ATN1_HUMAN	L	415	ENSP00000349076:P415L;ENSP00000379915:P415L;ENSP00000441744:P415L	ENSP00000349076:P415L	P	+	2	0	ATN1	6915935	0.221000	0.23642	0.767000	0.31495	0.303000	0.27691	3.299000	0.51826	0.729000	0.32403	-0.290000	0.09829	CCA		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7045674	C	T	7045674	3	4	13	1	0	0	0	0	1	0	0	0	1111	594	21	3	1258	3	ATN1	12	7045674	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		7045674	126806221	48	936											
PDE3A	5139	broad.mit.edu	37	chr12	20790147	20790147	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggaaaatataggaagAaaatgtggccgtattcttag	15	12	11	3	1	1	1	0	0	1	1	1	3	1	3	1	3	0	1	1	3	10	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:20790147A>G	ENST00000359062.3	+	9	2155	c.2115A>G	c.(2113-2115)agA>agG	p.R705R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	705					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATATAGGAAGAAAATGTGGCC	0.343																																						uc001reh.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2113-2115)agA>agG		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						66	64	65					12																	20790147		2202	4300	6502	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20790147A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2115A>G	12.37:g.20790147A>G						PDE3A_uc021qwa.1_Silent_p.R383R	p.R705R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			8	2155	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	705					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2115A>G	CCDS31754.1																																																																																				0.343	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			G	20790147	A	G	20790147	2	3	13	1	0	0	0	0	0	0	0	1	11637	243	9	4		4	PDE3A	12	20790147	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	13744473	20790147	113061748	49	937											
SACS	26278	broad.mit.edu	37	chr13	23912431	23912431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgtgtggtttcactgTccacttctggtcctggattt	5	17	9	10	0	2	0	1	0	1	0	5	1	5	1	3	3	0	1	3	3	1	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:23912431T>C	ENST00000382292.3	-	9	5857	c.5584A>G	c.(5584-5586)Aca>Gca	p.T1862A	SACS_ENST00000382298.3_Missense_Mutation_p.T1862A|SACS_ENST00000402364.1_Missense_Mutation_p.T1112A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1862					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTCACTGTCCACTTCTGG	0.453																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5584-5586)Aca>Gca		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							130	129	130					13																	23912431		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912431T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5584A>G	13.37:g.23912431T>C	ENSP00000371729:p.Thr1862Ala					SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.T1862A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	6173	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1862					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5584A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170641	0.38315	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86164	-2.05;-2.08;-2.05	5.75	3.37	0.38596	.	0.461511	0.24256	N	0.040130	T	0.74726	0.3754	N	0.22421	0.69	0.42692	D	0.993585	B	0.02656	0.0	B	0.04013	0.001	T	0.61802	-0.6988	10	0.22109	T	0.4	.	6.2216	0.20685	0.0:0.0902:0.1616:0.7482	.	1862	Q9NZJ4	SACS_HUMAN	A	1862;1112;1862	ENSP00000371729:T1862A;ENSP00000385844:T1112A;ENSP00000371735:T1862A	ENSP00000371729:T1862A	T	-	1	0	SACS	22810431	1.000000	0.71417	0.640000	0.29408	0.655000	0.38815	0.960000	0.29253	0.456000	0.26937	0.482000	0.46254	ACA		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23912431	T	C	23912431	3	2	13	1	0	0	0	0	1	0	0	0	13804	1667	58	4	8159	4	SACS	13	23912431	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		23912431	91257447	50	938											
PAN3	255967	broad.mit.edu	37	chr13	28851372	28851372	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatttattctttcatgtcAgcaagcagatctgatatcat	12	17	5	7	0	5	2	3	1	2	1	5	2	5	2	0	0	2	2	0	0	5	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:28851372A>G	ENST00000380958.3	+	15	2201		c.e15-1		PAN3_ENST00000399613.1_Splice_Site|PAN3_ENST00000282391.5_Splice_Site	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTTCATGTCAGCAAGCAGAT	0.343																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.e15-2		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							90	89	89					13																	28851372		2203	4300	6503	SO:0001630	splice_region_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28851372A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2050-1A>G	13.37:g.28851372A>G						PAN3_uc001ury.3_Splice_Site_p.Q372_splice|PAN3_uc001urx.3_Splice_Site_p.Q484_splice	p.Q684_splice	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	15	2202	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	684			Interaction with PAN2.|Protein kinase.			Splice_Site	SNP	ENST00000380958.3	37	c.2050_splice	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527567	0.85706	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAN3	27749372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.194000	0.70268	0.533000	0.62120	.		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	Intron	G	28851372	A	G	28851372	5	3	13	1	0	0	0	0	0	0	1	0	11415	202	7	4	2106	4	PAN3	13	28851372	Splice_Site	SNP	A	TCGA-06-0128-01A-01D-1490-08	4938941	28851372	86318506	51	939											
G2E3	55632	broad.mit.edu	37	chr14	31081472	31081472	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaatgaatgctataactaCcttgagttaattggatgtct	14	15	7	5	0	1	2	0	2	1	0	1	3	1	3	1	1	3	2	1	1	7	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:31081472C>G	ENST00000206595.6	+	13	1714	c.1560C>G	c.(1558-1560)taC>taG	p.Y520*	G2E3_ENST00000438909.2_Nonsense_Mutation_p.Y474*|G2E3_ENST00000553504.1_Nonsense_Mutation_p.Y550*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	520	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTATAACTACCTTGAGTTAA	0.318																																						uc001wqk.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1558-1560)taC>taG		Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.							110	116	114					14																	31081472		2203	4295	6498	SO:0001587	stop_gained	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31081472C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1560C>G	14.37:g.31081472C>G	ENSP00000206595:p.Tyr520*					G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	p.Y520*	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			12	1714	+			520			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	ENST00000206595.6	37	c.1560C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	49	15.535986	0.99837	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.47	0.535	0.17133	.	0.241706	0.43110	D	0.000614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.548	10.2416	0.43316	0.0:0.6004:0.0:0.3996	.	.	.	.	X	520;474;550	.	ENSP00000206595:Y520X	Y	+	3	2	G2E3	30151223	0.977000	0.34250	0.345000	0.25642	0.651000	0.38670	0.579000	0.23788	-0.102000	0.12197	0.555000	0.69702	TAC		0.318	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		G	31081472	C	G	31081472	4	3	13	1	0	0	0	0	0	1	0	0	6140	518	18	5	1606	5	G2E3	14	31081472	Nonsense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		31081472	76268068	52	940											
WDHD1	11169	broad.mit.edu	37	chr14	55451511	55451511	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagggtcaccatgcaaaatTtgttttttctttttccccag	9	16	7	9	0	2	1	1	0	1	1	3	1	3	1	3	1	1	2	3	1	2	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:55451511T>G	ENST00000360586.3	-	15	1901	c.1836A>C	c.(1834-1836)caA>caC	p.Q612H	WDHD1_ENST00000420358.2_Missense_Mutation_p.Q489H|WDHD1_ENST00000421192.1_Missense_Mutation_p.Q489H|WDHD1_ENST00000359167.4_Missense_Mutation_p.Q130H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	612				Q -> K (in Ref. 3; AAH43349/AAH00622). {ECO:0000305}.	heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATGCAAAATTTGTTTTTTCT	0.378																																						uc001xbm.2																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(1834-1836)caA>caC		Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.							54	56	55					14																	55451511		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55451511T>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1836A>C	14.37:g.55451511T>G	ENSP00000353793:p.Gln612His					WDHD1_uc010aom.2_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.2_Missense_Mutation_p.Q489H	p.Q612H	NM_007086	NP_009017	O75717	WDHD1_HUMAN			14	1926	-			612	Q -> K (in Ref. 2; AAH43349/AAH00622).				C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1836A>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675713	0.67928	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.64085	0.28;0.77;-0.08	5.14	-0.713	0.11223	.	0.061993	0.64402	D	0.000003	T	0.73489	0.3593	M	0.82323	2.585	0.52501	D	0.999953	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.922	T	0.71761	-0.4495	10	0.15499	T	0.54	.	10.7324	0.46104	0.0:0.5278:0.0:0.4722	.	130;612	F8W7P7;O75717	.;WDHD1_HUMAN	H	612;130;489	ENSP00000353793:Q612H;ENSP00000352085:Q130H;ENSP00000391049:Q489H	ENSP00000352085:Q130H	Q	-	3	2	WDHD1	54521261	0.033000	0.19621	0.994000	0.49952	0.983000	0.72400	0.043000	0.13971	-0.103000	0.12175	0.460000	0.39030	CAA		0.378	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		G	55451511	T	G	55451511	3	3	13	1	0	0	0	0	1	0	0	0	17268	1838	64	5	1601	5	WDHD1	14	55451511	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	24370039	55451511	51898029	53	941											
TCF12	6938	broad.mit.edu	37	chr15	57554312	57554313	+	Frame_Shift_Del	DEL	CT	CT	-																															gttggaactcatcgggaagaCtctgtcagtctcaatggcaa																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57554312_57554313delCT	ENST00000267811.5	+	16	1720_1721	c.1416_1417delCT	c.(1414-1419)gactctfs	p.S473fs	TCF12_ENST00000559710.1_Frame_Shift_Del_p.S107fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S493fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S497fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S497fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S327fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S303fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S237fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S473fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.S131fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	473					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATCGGGAAGACTCTGTCAGTCT	0.356			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1414-1419)gactctfs		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57554312_57554313delCT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1416_1417delCT	15.37:g.57554314_57554315delCT	ENSP00000267811:p.Ser473fs					TCF12_uc010ugm.1_Frame_Shift_Del_p.D524fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.D492fs|TCF12_uc002aea.3_Frame_Shift_Del_p.D496fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.D496fs|TCF12_uc002aed.3_Frame_Shift_Del_p.D472fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.D236fs|TCF12_uc002aee.3_Frame_Shift_Del_p.D302fs|TCF12_uc010bft.3_Frame_Shift_Del_p.D326fs|TCF12_uc010ugp.2_Frame_Shift_Del_p.D130fs|TCF12_uc010ugq.2_Frame_Shift_Del_p.D106fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.D85fs	p.D472fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	15	1700_1701	+		Colorectal(260;0.0907)	472					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.1416_1417delCT	CCDS10159.1																																																																																				0.356	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		-	57554313	CT	-	57554312	7	5	13	1	0	1	0	1	0	0	0	0	15684	564	20	0	1623	0	TCF12	15	57554312	Frame_Shift_Del	DEL	CT	TCGA-06-0128-01A-01D-1490-08		57554312	44977080	54	942											
TCF12	6938	broad.mit.edu	37	chr15	57555309	57555309	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgcctctttgttaGgtggcttgcaaagtcagtct	5	18	9	9	0	3	0	1	0	2	0	4	0	4	0	2	2	2	3	2	2	2	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57555309G>C	ENST00000267811.5	+	17	1814		c.e17-1		TCF12_ENST00000559710.1_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000559703.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.?(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTCTTTGTTAGGTGGCTTGCA	0.358			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e17-1		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.							71	68	69					15																	57555309		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57555309G>C	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1511-1G>C	15.37:g.57555309G>C						TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.3_Splice_Site_p.G528_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.G528_splice|TCF12_uc002aed.3_Splice_Site_p.G504_splice|TCF12_uc010ugo.2_Splice_Site_p.G268_splice|TCF12_uc002aee.3_Splice_Site_p.G334_splice|TCF12_uc010bft.3_Splice_Site_p.G358_splice|TCF12_uc010ugp.2_Splice_Site_p.G162_splice|TCF12_uc010ugq.2_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	p.G504_splice	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1795	+		Colorectal(260;0.0907)	504					Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37	c.1511_splice	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001278	0.74818	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2361	0.93861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55342601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.488000	0.66869	2.872000	0.98467	0.650000	0.86243	.		0.358	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	C	57555309	G	C	57555309	5	2	13	1	0	0	0	0	0	0	1	0	15684	1014	35	5	1721	5	TCF12	15	57555309	Splice_Site	SNP	G	TCGA-06-0128-01A-01D-1490-08	997	57555309	44976083	55	943											
TARSL2	123283	broad.mit.edu	37	chr15	102241320	102241320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcgtattataaatgAaggctcctctgggaaggaaa	14	10	11	6	1	1	1	0	1	1	0	2	3	2	3	1	3	1	3	1	3	8	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:102241320A>G	ENST00000335968.3	-	10	1505	c.1289T>C	c.(1288-1290)tTc>tCc	p.F430S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	430					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTATAAATGAAGGCTCCTCT	0.303																																						uc002bxm.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1288-1290)tTc>tCc		Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.							46	49	48					15																	102241320		2203	4299	6502	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102241320A>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1289T>C	15.37:g.102241320A>G	ENSP00000338093:p.Phe430Ser					TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	p.F430S	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1344	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		430					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1289T>C	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	9.665	1.145090	0.21288	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.81	3.66	0.41972	.	0.324016	0.35805	N	0.002969	T	0.30039	0.0752	N	0.14661	0.345	0.34796	D	0.736241	B	0.16166	0.016	B	0.14578	0.011	T	0.21245	-1.0251	9	0.27082	T	0.32	-10.8408	5.7657	0.18225	0.6559:0.1755:0.0:0.1685	.	430	A2RTX5	SYTC2_HUMAN	S	430;335;430	.	ENSP00000329291:F335S	F	-	2	0	TARSL2	100058843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.275000	0.33144	0.765000	0.33221	0.533000	0.62120	TTC		0.303	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		G	102241320	A	G	102241320	3	3	13	1	0	0	0	0	1	0	0	0	15558	246	9	4	1159	4	TARSL2	15	102241320	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	44686011	102241320	290072	56	944											
HBZ	3050	broad.mit.edu	37	chr16	202974	202974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagatctccacgcaggcCgacaccatcggcaccgagac	11	3	10	17	4	1	2	0	0	1	2	3	4	1	2	5	2	0	2	5	2	1	0	rs368733826		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:202974C>T	ENST00000252951.2	+	1	289	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	22					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACGCAGGCCGACACCATCG	0.627													C|||	0	0	0	0	5008	,	,		13584	0		0	False		,,,				2504	0					uc002cft.1																			0											c.(64-66)gcC>gcT		Homo sapiens hemoglobin, zeta (HBZ), mRNA.							81	48	59					16																	202974		2203	4297	6500	SO:0001819	synonymous_variant	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202974C>T	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.66C>T	16.37:g.202974C>T							p.A22A	NM_005332	NP_005323	P02008	HBAZ_HUMAN			0	121	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	22					Q6IBF6	Silent	SNP	ENST00000252951.2	37	c.66C>T	CCDS10397.1																																																																																				0.627	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332		T	202974	C	T	202974	2	4	13	1	0	0	0	0	0	0	0	1	6989	639	23	2		2	HBZ	16	202974	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08		202974	90151779	57	945											
SSTR5	6755	broad.mit.edu	37	chr16	1129388	1129388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcatgtcgctgccgCtcctggtgttcgcggacgtg	2	12	14	13	5	1	0	0	0	1	0	4	1	2	1	2	2	2	4	2	2	0	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1129388C>A	ENST00000293897.4	+	1	608	c.520C>A	c.(520-522)Ctc>Atc	p.L174I	SSTR5_ENST00000562758.1_Missense_Mutation_p.L174I|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.L174I	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	174					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCGCTGCCGCTCCTGGTGTT	0.721																																						uc021taf.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(520-522)Ctc>Atc		Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	Octreotide(DB00104)						14	17	16					16																	1129388		2167	4257	6424	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129388C>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.520C>A	16.37:g.1129388C>A	ENSP00000293897:p.Leu174Ile					LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.L174I	p.L174I	NM_001172560	NP_001166031	P35346	SSR5_HUMAN			1	591	+		Hepatocellular(780;0.00369)	174					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.520C>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263024	0.01445	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.38077	1.16;1.16	4.87	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.067649	0.64402	D	0.000019	T	0.12689	0.0308	N	0.01515	-0.825	0.26379	N	0.976767	B	0.06786	0.001	B	0.15052	0.012	T	0.26677	-1.0096	10	0.06494	T	0.89	.	15.197	0.73100	0.0:0.3042:0.6958:0.0	.	174	P35346	SSR5_HUMAN	I	174	ENSP00000380680:L174I;ENSP00000293897:L174I	ENSP00000293897:L174I	L	+	1	0	SSTR5	1069389	0.086000	0.21541	0.263000	0.24496	0.005000	0.04900	0.368000	0.20399	0.454000	0.26884	-0.264000	0.10439	CTC		0.721	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			A	1129388	C	A	1129388	3	1	13	1	0	0	0	0	1	0	0	0	15200	797	28	5	522	5	SSTR5	16	1129388	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	926414	1129388	89225365	58	946											
C16orf91	283951	broad.mit.edu	37	chr16	1470457	1470457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccatggtatggcccacCgaccagcggtgagggttggc	6	9	14	12	2	0	1	0	1	0	0	1	2	1	1	4	5	1	2	4	5	1	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1470457C>T	ENST00000442039.2	-	2	265	c.189G>A	c.(187-189)tcG>tcA	p.S63S	C16orf91_ENST00000563974.1_5'UTR|C16orf91_ENST00000310355.1_Silent_p.S220S	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	63						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TATGGCCCACCGACCAGCGGT	0.652																																						uc010uvd.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(658-660)tcG>tcA		Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.							79	74	76					16																	1470457		2199	4300	6499	SO:0001819	synonymous_variant	283951					integral to membrane		g.chr16:1470457C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.189G>A	16.37:g.1470457C>T						C16orf91_uc002clr.3_Silent_p.S63S	p.S220S	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			3	660	-			63					Q96RZ0	Silent	SNP	ENST00000442039.2	37	c.660G>A																																																																																					0.652	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		T	1470457	C	T	1470457	2	4	13	1	0	0	0	0	0	0	0	1	1844	639	23	2		2	C16orf91	16	1470457	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08	341069	1470457	88884296	59	947											
PDILT	204474	broad.mit.edu	37	chr16	20370764	20370764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcttccagcttggatacGtacttggtcatgttctccag	6	14	10	11	1	3	0	1	0	2	0	5	1	4	1	2	3	3	4	2	3	2	6	rs374255958		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:20370764G>A	ENST00000302451.4	-	12	1880	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	544					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.Y544Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512																																						uc002dhc.1																			1	Substitution - coding silent(1)	p.Y544Y(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1630-1632)taC>taT		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.							230	205	213					16																	20370764		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370764G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1632C>T	16.37:g.20370764G>A							p.Y544Y	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			11	1855	-			544					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1632C>T	CCDS10584.1																																																																																				0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20370764	G	A	20370764	2	1	13	1	0	0	0	0	0	0	0	1	11674	1140	40	1		1	PDILT	16	20370764	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	18900307	20370764	69983989	60	948											
ARMC5	79798	broad.mit.edu	37	chr16	31470871	31470871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgaagccaaccctcaCggactcgctctcgttctgcc	6	8	10	17	4	3	0	1	0	2	0	5	2	3	1	3	2	4	3	3	2	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:31470871C>A	ENST00000563544.1	+	2	572	c.26C>A	c.(25-27)aCg>aAg	p.T9K	ARMC5_ENST00000408912.3_Missense_Mutation_p.T104K|ARMC5_ENST00000268314.4_Missense_Mutation_p.T9K|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000538189.1_Missense_Mutation_p.T41K|ARMC5_ENST00000457010.2_Missense_Mutation_p.T9K|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	9										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAACCCTCACGGACTCGCTC	0.687																																						uc010vfn.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(310-312)aCg>aAg		Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.							11	17	15					16																	31470871		2021	4169	6190	SO:0001583	missense	79798						binding	g.chr16:31470871C>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.26C>A	16.37:g.31470871C>A	ENSP00000456877:p.Thr9Lys					ARMC5_uc010vfo.2_Missense_Mutation_p.T41K|ARMC5_uc002ecc.3_Missense_Mutation_p.T9K|ARMC5_uc002eca.4_Missense_Mutation_p.T9K|ARMC5_uc002ecb.2_Missense_Mutation_p.T9K|ARMC5_uc010vfp.2_Missense_Mutation_p.T9K	p.T104K	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			2	435	+			9					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.311C>A	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	17.43	3.388324	0.61956	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.95	4.95	0.65309	.	.	.	.	.	T	0.56717	0.2004	L	0.44542	1.39	0.80722	D	1	P;P;P;P;D	0.58970	0.928;0.928;0.928;0.835;0.984	P;P;P;P;P	0.55965	0.497;0.497;0.497;0.497;0.788	T	0.49818	-0.8899	9	0.26408	T	0.33	.	13.5391	0.61664	0.0:1.0:0.0:0.0	.	41;41;104;9;9	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	K	104;41;9;9	ENSP00000386125:T104K;ENSP00000443995:T41K;ENSP00000268314:T9K;ENSP00000399561:T9K	ENSP00000268314:T9K	T	+	2	0	ARMC5	31378372	0.964000	0.33143	0.989000	0.46669	0.887000	0.51463	1.269000	0.33074	2.571000	0.86741	0.651000	0.88453	ACG		0.687	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		A	31470871	C	A	31470871	3	1	13	1	0	0	0	0	1	0	0	0	954	536	19	5	28	5	ARMC5	16	31470871	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	11100107	31470871	58883882	61	949											
SPNS3	201305	broad.mit.edu	37	chr17	4337372	4337372	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcacgcccacctcctGgagcctgcccccgtggaggg	5	6	11	19	2	1	0	1	0	0	0	3	2	3	2	7	3	2	0	7	3	0	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:4337372G>A	ENST00000355530.2	+	1	390	c.110G>A	c.(109-111)tGg>tAg	p.W37*	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	37					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.W37F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCACCTCCTGGAGCCTGCCC	0.657																																						uc002fxt.3																			1	Substitution - Missense(1)	p.W37F(2)	ovary(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(109-111)tGg>tAg		Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.							68	67	67					17																	4337372		2203	4300	6503	SO:0001587	stop_gained	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4337372G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.110G>A	17.37:g.4337372G>A	ENSP00000347721:p.Trp37*					SPNS3_uc002fxu.3_5'UTR	p.W37*	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			0	154	+			37					Q8IZ31	Nonsense_Mutation	SNP	ENST00000355530.2	37	c.110G>A	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	37	6.141477	0.97320	.	.	ENSG00000182557	ENST00000355530	.	.	.	4.91	4.91	0.64330	.	0.427582	0.23539	N	0.047091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-15.5476	13.7962	0.63173	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000347721:W37X	W	+	2	0	SPNS3	4284121	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.161000	0.58170	2.726000	0.93360	0.655000	0.94253	TGG		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		A	4337372	G	A	4337372	4	1	13	1	0	0	0	0	0	1	0	0	15075	1357	47	3	112	3	SPNS3	17	4337372	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		4337372	76857838	62	950											
TP53	7157	broad.mit.edu	37	chr17	7576910	7576910	+	Frame_Shift_Del	DEL	G	G	-																															tttggctggggagaggagctGgtgttgttgggcagtgctag																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:7576910delG	ENST00000269305.4	-	9	1125	c.936delC	c.(934-936)accfs	p.T312fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.T312fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	312	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(2)|p.T312T(2)|p.S313fs*24(2)|p.L308fs*15(1)|p.L308fs*31(1)|p.S313fs*32(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGAGGAGCTGGTGTTGTTGG	0.488		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		17	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Substitution - coding silent(2)|Insertion - Frameshift(2)	p.0?(8)|p.T312S(4)|p.T312T(4)|p.?(2)|p.S313fs*24(2)|p.N311H(1)|p.N311K(1)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.N311fs*34(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|oesophagus(1)|breast(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(934-936)accfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132	121	125					17																	7576910		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576910delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.936delC	17.37:g.7576910delG	ENSP00000269305:p.Thr312fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.T312fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1130	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	312		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.936delC	CCDS11118.1																																																																																				0.488	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7576910	G	-	7576910	7	5	13	1	0	1	0	1	0	0	0	0	16378	1335	47	0	346	0	TP53	17	7576910	Frame_Shift_Del	DEL	G	TCGA-06-0128-01A-01D-1490-08	3239538	7576910	73618300	63	951											
KRT34	3885	broad.mit.edu	37	chr17	39538605	39538605	+	Frame_Shift_Del	DEL	G	G	-																															ttataccattaattgtgggtGggggcttggcatacagcata																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39538605delG	ENST00000394001.1	-	1	50	c.20delC	c.(19-21)ccafs	p.P8fs		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	8	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AATTGTGGGTGGGGGCTTGGC	0.458																																						uc002hwm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(19-21)ccafs		Homo sapiens keratin 34 (KRT34), mRNA.							72	72	72					17																	39538605		2203	4300	6503	SO:0001589	frameshift_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538605delG	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.20delC	17.37:g.39538605delG	ENSP00000377570:p.Pro8fs						p.P7fs	NM_021013	NP_066293	O76011	KRT34_HUMAN			0	32	-		Breast(137;0.000496)	7			Head.		Q8IUT8|Q8N4W2	Frame_Shift_Del	DEL	ENST00000394001.1	37	c.20delC	CCDS11390.1																																																																																				0.458	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		-	39538605	G	-	39538605	7	5	13	1	0	1	0	1	0	0	0	0	8471	1348	47	0	1318	0	KRT34	17	39538605	Frame_Shift_Del	DEL	G	TCGA-06-0128-01A-01D-1490-08	31961695	39538605	41656605	64	952											
EVPL	2125	broad.mit.edu	37	chr17	74004095	74004095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagactcctccccacaggGccccgaggtggtgacctcct	7	6	10	18	1	0	2	0	1	0	1	3	3	3	2	7	3	0	0	7	3	0	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:74004095G>A	ENST00000301607.3	-	22	5444	c.5191C>T	c.(5191-5193)Ccc>Tcc	p.P1731S	EVPL_ENST00000586740.1_Missense_Mutation_p.P1753S|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1731	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCCACAGGGCCCCGAGGTG	0.642																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5257-5259)Ccc>Tcc		Homo sapiens envoplakin (EVPL), mRNA.							53	54	53					17																	74004095		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004095G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5191C>T	17.37:g.74004095G>A	ENSP00000301607:p.Pro1731Ser					EVPL_uc002jqi.2_Missense_Mutation_p.P1731S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	p.P1753S	NM_001988	NP_001979	Q92817	EVPL_HUMAN			21	5485	-			1731			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5257C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534750	0.45073	.	.	ENSG00000167880	ENST00000301607	T	0.63580	-0.05	4.94	4.94	0.65067	.	0.062210	0.64402	D	0.000004	T	0.48003	0.1476	N	0.25647	0.755	0.42552	D	0.993113	P;P	0.44578	0.838;0.802	B;B	0.39503	0.301;0.236	T	0.54470	-0.8289	10	0.54805	T	0.06	-38.4462	11.6352	0.51200	0.0816:0.0:0.9184:0.0	.	1753;1731	B7ZLH8;Q92817	.;EVPL_HUMAN	S	1731	ENSP00000301607:P1731S	ENSP00000301607:P1731S	P	-	1	0	EVPL	71515690	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.687000	0.68219	2.289000	0.77006	0.561000	0.74099	CCC		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74004095	G	A	74004095	3	1	13	1	0	0	0	0	1	0	0	0	5292	1203	42	3	914	3	EVPL	17	74004095	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	34465490	74004095	7191115	65	953											
WDR7	23335	broad.mit.edu	37	chr18	54694330	54694330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccctgtgcagcccgcGtcccccggctcccacaatgc	4	6	10	21	3	0	0	0	0	0	0	2	0	2	0	6	1	4	2	6	1	1	0	rs547450912		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:54694330G>A	ENST00000254442.3	+	28	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000357574.3_Silent_p.A1422A|WDR7_ENST00000589935.1_Silent_p.A32A	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1455					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617													G|||	1	0.000199681	0	0	5008	,	,		18158	0		0	False		,,,				2504	0.001					uc002lgk.1																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(4363-4365)gcG>gcA		Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.							48	47	48					18																	54694330		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54694330G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4365G>A	18.37:g.54694330G>A						WDR7_uc002lgl.1_Silent_p.A1422A	p.A1455A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	27	4576	+			1455					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.4365G>A	CCDS11962.1																																																																																				0.617	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			A	54694330	G	A	54694330	2	1	13	1	0	0	0	0	0	0	0	1	17317	1132	40	1		1	WDR7	18	54694330	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08		54694330	23382918	66	954											
ZNF407	55628	broad.mit.edu	37	chr18	72345426	72345426	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaagggcatgctggcGtctgaggaactgtcacagtc	9	9	14	9	1	2	2	1	2	1	1	3	4	2	3	0	3	2	2	0	3	2	1	rs371806813		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:72345426G>C	ENST00000299687.5	+	1	2451	c.2451G>C	c.(2449-2451)gcG>gcC	p.A817A	ZNF407_ENST00000582337.1_Silent_p.A817A|ZNF407_ENST00000577538.1_Silent_p.A817A|ZNF407_ENST00000309902.6_Silent_p.A817A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	817					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCATGCTGGCGTCTGAGGAAC	0.438																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2449-2451)gcG>gcC		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							136	137	136					18																	72345426		2018	4176	6194	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345426G>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2451G>C	18.37:g.72345426G>C						ZNF407_uc010xfc.2_Silent_p.A817A|ZNF407_uc010dqu.2_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	p.A817A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	0	2504	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	817					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.2451G>C	CCDS45885.1																																																																																				0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72345426	G	C	72345426	2	2	13	1	0	0	0	0	0	0	0	1	17884	1132	40	5		5	ZNF407	18	72345426	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	17651096	72345426	5731822	67	955											
C3	718	broad.mit.edu	37	chr19	6707242	6707242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatggggttctcccgcatgCcgtcctcgcagcacttgcgc	4	10	11	16	4	2	0	1	0	1	0	5	0	3	0	3	2	3	4	3	2	0	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:6707242C>T	ENST00000245907.6	-	17	2182	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	697	Anaphylatoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00022}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCCCGCATGCCGTCCTCGCA	0.667																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2089-2091)gGc>gAc		Homo sapiens complement component 3 (C3), mRNA.							36	33	34					19																	6707242		2198	4297	6495	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707242C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2090G>A	19.37:g.6707242C>T	ENSP00000245907:p.Gly697Asp						p.G697D	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	16	2152	-			697			Anaphylatoxin-like.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2090G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870795	0.72065	.	.	ENSG00000125730	ENST00000245907	T	0.79033	-1.23	4.85	4.85	0.62838	Complement C3a/C4a/C5a anaphylatoxin (1);Anaphylatoxin (2);Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.94063	3.49	0.53005	D	0.999965	D	0.76494	0.999	D	0.72075	0.976	D	0.93425	0.6780	10	0.87932	D	0	.	16.7222	0.85413	0.0:1.0:0.0:0.0	.	697	P01024	CO3_HUMAN	D	697	ENSP00000245907:G697D	ENSP00000245907:G697D	G	-	2	0	C3	6658242	1.000000	0.71417	0.980000	0.43619	0.248000	0.25809	7.133000	0.77259	2.244000	0.73946	0.591000	0.81541	GGC		0.667	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6707242	C	T	6707242	3	4	13	1	0	0	0	0	1	0	0	0	2204	739	26	3	3001	3	C3	19	6707242	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		6707242	52421741	68	956											
ZNF440	126070	broad.mit.edu	37	chr19	11943173	11943173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggactcacactggagagaaAccctatgagtgtaagcaatg	15	7	11	8	0	1	2	1	1	0	1	1	5	1	4	1	2	2	2	1	2	4	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:11943173A>C	ENST00000304060.5	+	4	1346	c.1182A>C	c.(1180-1182)aaA>aaC	p.K394N		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCTATGAGT	0.463																																						uc002msp.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1180-1182)aaA>aaC		Homo sapiens zinc finger protein 440 (ZNF440), mRNA.							79	79	79					19																	11943173		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943173A>C	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1182A>C	19.37:g.11943173A>C	ENSP00000305373:p.Lys394Asn					ZNF440_uc021upk.1_5'Flank	p.K394N	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			3	1338	+			394					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1182A>C	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	14.90	2.672287	0.47781	.	.	ENSG00000171295	ENST00000304060	T	0.26067	1.76	1.19	1.19	0.21007	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44456	0.1294	M	0.81112	2.525	0.27750	N	0.944175	D	0.56968	0.978	P	0.59487	0.858	T	0.27673	-1.0067	9	0.87932	D	0	.	7.8119	0.29237	1.0:0.0:0.0:0.0	.	394	Q8IYI8	ZN440_HUMAN	N	394	ENSP00000305373:K394N	ENSP00000305373:K394N	K	+	3	2	ZNF440	11804173	0.012000	0.17670	0.438000	0.26821	0.061000	0.15899	-0.478000	0.06575	0.806000	0.34183	0.172000	0.16884	AAA		0.463	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		C	11943173	A	C	11943173	3	2	13	1	0	0	0	0	1	0	0	0	17910	40	2	5	1196	5	ZNF440	19	11943173	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	5235931	11943173	47185810	69	957											
BCAM	4059	broad.mit.edu	37	chr19	45315773	45315773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcccccaacaaagggAcactgtctgtgatggaggac	11	7	12	11	0	2	1	0	1	2	0	3	4	2	4	2	4	1	0	2	4	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:45315773A>G	ENST00000270233.6	+	4	494	c.472A>G	c.(472-474)Aca>Gca	p.T158A	BCAM_ENST00000589651.1_Missense_Mutation_p.T158A	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	158	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAACAAAGGGACACTGTCTGT	0.647																																						uc002ozu.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(472-474)Aca>Gca		Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.							69	57	61					19																	45315773		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45315773A>G	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.472A>G	19.37:g.45315773A>G	ENSP00000270233:p.Thr158Ala					BCAM_uc002ozt.1_Missense_Mutation_p.T158A	p.T158A	NM_005581	NP_005572	P50895	BCAM_HUMAN			3	516	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	158			Ig-like V-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.472A>G	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	2.955	-0.215811	0.06101	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.76060	-0.99;-0.99	3.79	3.79	0.43588	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56688	0.2002	L	0.29908	0.895	0.21604	N	0.999623	B	0.26935	0.164	B	0.24394	0.053	T	0.42378	-0.9455	9	0.06236	T	0.91	-1.6118	9.0998	0.36662	1.0:0.0:0.0:0.0	.	158	P50895	BCAM_HUMAN	A	158	ENSP00000270233:T158A;ENSP00000375817:T158A	ENSP00000270233:T158A	T	+	1	0	BCAM	50007613	0.370000	0.25047	0.565000	0.28409	0.371000	0.29859	2.008000	0.40893	1.718000	0.51419	0.260000	0.18958	ACA		0.647	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		G	45315773	A	G	45315773	3	3	13	1	0	0	0	0	1	0	0	0	1344	275	10	4	486	4	BCAM	19	45315773	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	33372600	45315773	13813210	70	958											
ZNF649	65251	broad.mit.edu	37	chr19	52394411	52394411	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcccttctgaatgaaGccttttccacattcactgca	10	13	6	12	0	2	3	1	2	1	1	3	3	3	3	3	0	3	1	3	0	2	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394411G>C	ENST00000354957.3	-	5	1262	c.978C>G	c.(976-978)ggC>ggG	p.G326G	ZNF649_ENST00000600738.1_Silent_p.G298G|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTGAATGAAGCCTTTTCCAC	0.458																																						uc002pxy.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(976-978)ggC>ggG		Homo sapiens zinc finger protein 649 (ZNF649), mRNA.							165	129	141					19																	52394411		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394411G>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.978C>G	19.37:g.52394411G>C						ZNF577_uc010ydf.1_5'Flank	p.G326G	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	4	1304	-		all_neural(266;0.0602)	326					A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.978C>G	CCDS12843.1																																																																																				0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		C	52394411	G	C	52394411	2	2	13	1	0	0	0	0	0	0	0	1	18061	958	34	5		5	ZNF649	19	52394411	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	7078638	52394411	6734572	71	959			1	5		2	2	13	N	T_G	3.178579e-05
ZNF649	65251	broad.mit.edu	37	chr19	52394423	52394423	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgaagccttttccacaTtcactgcatgtatgaggctt	10	14	8	9	0	1	3	1	3	0	0	2	3	2	3	2	1	2	3	2	1	3	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394423T>C	ENST00000354957.3	-	5	1250	c.966A>G	c.(964-966)gaA>gaG	p.E322E	ZNF649_ENST00000600738.1_Silent_p.E294E|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTTCCACATTCACTGCATG	0.458																																						uc002pxy.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(964-966)gaA>gaG		Homo sapiens zinc finger protein 649 (ZNF649), mRNA.							149	117	128					19																	52394423		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394423T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.966A>G	19.37:g.52394423T>C						ZNF577_uc010ydf.1_5'Flank	p.E322E	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	4	1292	-		all_neural(266;0.0602)	322					A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.966A>G	CCDS12843.1																																																																																				0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		C	52394423	T	C	52394423	2	2	13	1	0	0	0	0	0	0	0	1	18061	1490	52	4		4	ZNF649	19	52394423	Silent	SNP	T	TCGA-06-0128-01A-01D-1490-08	12	52394423	6734560	72	960			1	5		2	2	13	N	T_G	3.178579e-05
KIR2DL1	3811	broad.mit.edu	37	chr19	55284980	55284980	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacttctccatcagtcGcatgacgcaagacctggcag	10	7	10	14	2	2	2	1	1	1	1	4	2	2	2	3	2	1	3	3	2	2	1	rs543746914		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:55284980G>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R89H|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R89H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													.|||	1	0.000199681	0	0	5008	,	,		18723	0.001		0	False		,,,				2504	0					uc010erz.1																			1	Substitution - Missense(1)	p.R89H(2)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(265-267)cGc>cAc		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.							254	223	233					19																	55284980		2178	4210	6388	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284980G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44009G>A	19.37:g.55284980G>A						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.R89H	p.R89H	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	304	+			89			Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	a	7.047	0.563636	0.13498	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.23147	1.92;1.92	1.24	0.114	0.14639	.	.	.	.	.	T	0.12263	0.0298	N	0.11756	0.17	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.25187	-1.0139	9	0.66056	D	0.02	.	3.5284	0.07768	0.2873:0.4304:0.2823:0.0	.	89;89	Q6IST4;Q6H2H3	.;.	H	89	ENSP00000336769:R89H;ENSP00000291633:R89H	ENSP00000291633:R89H	R	+	2	0	KIR2DL1	59976792	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.081000	0.14823	-0.274000	0.09232	-2.943000	0.00086	CGC		0.537	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		A	55284980	G	A	55284980	1	1	13	0	1	0	0	0	0	0	0	0	8316	1087	38	1		1	KIR2DL1	19	55284980	Intron	SNP	G	TCGA-06-0128-01A-01D-1490-08	2890557	55284980	3844003	73	961											
ZNF586	54807	broad.mit.edu	37	chr19	58290731	58290731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagttcacacaggagAaaggccttatgaatgcgttg	12	10	12	7	1	1	3	1	2	0	2	1	5	1	3	1	2	1	2	1	2	3	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:58290731A>G	ENST00000396154.2	+	3	949	c.776A>G	c.(775-777)gAa>gGa	p.E259G	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000391702.3_Missense_Mutation_p.E216G	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACAGGAGAAAGGCCTTAT	0.443																																						uc002qqd.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(775-777)gAa>gGa		Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.							73	80	78					19																	58290731		2190	4298	6488	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290731A>G	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.776A>G	19.37:g.58290731A>G	ENSP00000379458:p.Glu259Gly					ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.E216G|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	p.E259G	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	967	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	259					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.776A>G	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057091	0.76074	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.27557	1.66;1.66	1.65	1.65	0.23941	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50514	0.1620	M	0.76170	2.325	0.29385	N	0.863005	D	0.76494	0.999	D	0.73708	0.981	T	0.43750	-0.9372	9	0.87932	D	0	.	8.1155	0.30940	1.0:0.0:0.0:0.0	.	259	Q9NXT0	ZN586_HUMAN	G	259;216;259	ENSP00000375583:E216G;ENSP00000379458:E259G	ENSP00000375583:E216G	E	+	2	0	ZNF586	62982543	0.996000	0.38824	0.316000	0.25252	0.539000	0.34962	3.576000	0.53878	0.732000	0.32470	0.533000	0.62120	GAA		0.443	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		G	58290731	A	G	58290731	3	3	13	1	0	0	0	0	1	0	0	0	18016	246	9	4	786	4	ZNF586	19	58290731	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	3005751	58290731	838252	74	962											
DNMT3B	1789	broad.mit.edu	37	chr20	31368258	31368258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctggaggctatccgcacCccggagatcagaggtggctg	8	7	14	12	2	1	2	1	0	0	2	3	4	3	3	4	5	0	3	4	5	1	1	rs377301092		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:31368258C>T	ENST00000328111.2	+	2	450	c.129C>T	c.(127-129)acC>acT	p.T43T	DNMT3B_ENST00000348286.2_Silent_p.T43T|DNMT3B_ENST00000344505.4_Silent_p.T43T|DNMT3B_ENST00000443239.3_Silent_p.T43T|DNMT3B_ENST00000353855.2_Silent_p.T43T|DNMT3B_ENST00000456297.2_Silent_p.T43T|DNMT3B_ENST00000201963.3_Silent_p.T55T|DNMT3B_ENST00000375623.4_Silent_p.T43T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	43	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTATCCGCACCCCGGAGATCA	0.652																																						uc002wyc.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(127-129)acC>acT		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.		C	,,,,,	1,4403		0,1,2201	23	26	25		129,129,129,129,129,165	3.3	1	20		25	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	43/729,43/695,43/854,43/834,43/771,55/846	31368258	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31368258C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.129C>T	20.37:g.31368258C>T						DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.T43T|DNMT3B_uc002wye.3_Silent_p.T43T|DNMT3B_uc010ztz.2_Silent_p.T43T|DNMT3B_uc010zua.2_Silent_p.T43T|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.T55T	p.T43T	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			1	450	+			43			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.129C>T	CCDS13205.1																																																																																				0.652	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		T	31368258	C	T	31368258	2	4	13	1	0	0	0	0	0	0	0	1	4677	610	22	3		3	DNMT3B	20	31368258	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08		31368258	31657262	75	963											
SULF2	55959	broad.mit.edu	37	chr20	46307466	46307466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgaggatggatttccCgtccatatccgcaggtatgt	8	12	11	10	2	0	1	0	1	0	0	3	3	3	3	3	3	1	3	3	3	2	4	rs373572802		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:46307466C>T	ENST00000359930.4	-	8	1998	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.G383R|SULF2_ENST00000484875.1_Missense_Mutation_p.G383R|SULF2_ENST00000467815.1_Missense_Mutation_p.G383R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	383					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGATTTCCCGTCCATATCC	0.617																																						uc002xto.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1147-1149)Ggg>Agg		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							131	120	124					20																	46307466		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46307466C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1147G>A	20.37:g.46307466C>T	ENSP00000353007:p.Gly383Arg					SULF2_uc002xtr.3_Missense_Mutation_p.G383R|SULF2_uc002xtq.3_Missense_Mutation_p.G383R	p.G383R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			7	1477	-			383					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1147G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.328399	0.81690	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93	5.37	4.41	0.53225	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.047549	0.85682	N	0.000000	D	0.99898	0.9951	H	0.99090	4.425	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.831;0.895	D	0.96186	0.9134	10	0.87932	D	0	-22.684	15.9434	0.79776	0.0:0.8645:0.1355:0.0	.	383;383	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	R	383	ENSP00000353007:G383R;ENSP00000418290:G383R;ENSP00000354662:G383R;ENSP00000418442:G383R	ENSP00000353007:G383R	G	-	1	0	SULF2	45740873	1.000000	0.71417	0.996000	0.52242	0.656000	0.38851	7.815000	0.86186	1.236000	0.43740	0.457000	0.33378	GGG		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46307466	C	T	46307466	3	4	13	1	0	0	0	0	1	0	0	0	15370	652	23	2	1521	2	SULF2	20	46307466	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	14939208	46307466	16718054	76	964											
CHODL	140578	broad.mit.edu	37	chr21	19638284	19638284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcagtaaaggaagaacaAaaactagtccaaaccagtct	18	9	6	8	0	2	1	1	0	1	1	3	2	3	2	2	1	3	1	2	1	8	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr21:19638284A>G	ENST00000299295.2	+	6	1142	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E	CHODL_ENST00000400128.1_Missense_Mutation_p.K210E|CHODL_ENST00000400131.1_Silent_p.Q175Q|CHODL_ENST00000400135.1_Silent_p.Q175Q|CHODL_ENST00000338326.3_Silent_p.Q175Q|CHODL_ENST00000400127.1_Missense_Mutation_p.K210E|CHODL_ENST00000543733.1_Missense_Mutation_p.K232E	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	251					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGAAGAACAAAAACTAGTCC	0.343																																						uc002ykv.3																			0				kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(751-753)Aaa>Gaa		Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.							77	79	78					21																	19638284		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19638284A>G	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.751A>G	21.37:g.19638284A>G	ENSP00000299295:p.Lys251Glu					CHODL_uc002ykr.3_Missense_Mutation_p.K210E|CHODL_uc002yks.3_Missense_Mutation_p.K210E|CHODL_uc021whr.1_Missense_Mutation_p.K210E|CHODL_uc002ykt.3_Silent_p.Q175Q|CHODL_uc002yku.3_Silent_p.Q175Q|CHODL_uc021whs.1_Missense_Mutation_p.K232E	p.K251E	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	5	1142	+		all_epithelial(11;0.21)	251					B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.751A>G	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181396	0.38511	.	.	ENSG00000154645	ENST00000400128;ENST00000400127;ENST00000299295;ENST00000543733	T;T;T;T	0.17213	2.3;2.3;2.29;2.29	5.18	3.95	0.45737	.	0.201079	0.50627	D	0.000104	T	0.10594	0.0259	.	.	.	0.80722	D	1	P	0.35745	0.518	B	0.28385	0.089	T	0.18241	-1.0343	8	.	.	.	-8.3979	11.2685	0.49124	0.8475:0.1525:0.0:0.0	.	251	Q9H9P2	CHODL_HUMAN	E	210;210;251;232	ENSP00000382993:K210E;ENSP00000382992:K210E;ENSP00000299295:K251E;ENSP00000443566:K232E	.	K	+	1	0	CHODL	18560155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.247000	0.65416	2.091000	0.63221	0.533000	0.62120	AAA		0.343	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		G	19638284	A	G	19638284	3	3	13	1	0	0	0	0	1	0	0	0	3364	15	1	4	773	4	CHODL	21	19638284	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08		19638284	28491611	77	965											
POTEH	23784	broad.mit.edu	37	chr22	16287511	16287511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtcttcatagcagaGtcgtcgtggtctccagaagt	8	12	12	9	2	3	3	1	1	2	2	6	3	3	3	1	1	1	1	1	1	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:16287511G>A	ENST00000343518.6	-	1	426	c.375C>T	c.(373-375)gaC>gaT	p.D125D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	125										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAGTCGTCGTGGT	0.612																																						uc010gqp.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(373-375)gaC>gaT		Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.							65	75	71					22																	16287511		1945	3711	5656	SO:0001819	synonymous_variant	23784							g.chr22:16287511G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.375C>T	22.37:g.16287511G>A						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	p.D125D	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			0	427	-			125					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.375C>T	CCDS46658.1																																																																																				0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		A	16287511	G	A	16287511	2	1	13	1	0	0	0	0	0	0	0	1	12267	1020	36	3		3	POTEH	22	16287511	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08		16287511	35017055	78	966											
MYO18B	84700	broad.mit.edu	37	chr22	26291213	26291213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcgaggagaggctggactCggagctgacagccaggaaag	12	4	17	8	2	0	2	0	1	0	1	1	7	0	5	1	5	3	2	1	5	1	0	rs537916951		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:26291213C>T	ENST00000407587.2	+	28	4806	c.4637C>T	c.(4636-4638)tCg>tTg	p.S1546L	CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.S1545L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S1545L|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1545	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCTGGACTCGGAGCTGACA	0.552													C|||	1	0.000199681	0	0	5008	,	,		20013	0.001		0	False		,,,				2504	0					uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4633-4635)tCg>tTg		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							31	36	34					22																	26291213		2104	4240	6344	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26291213C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4637C>T	22.37:g.26291213C>T	ENSP00000386096:p.Ser1546Leu					MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	p.S1545L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			27	4884	+			1545			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4634C>T		.	.	.	.	.	.	.	.	.	.	C	15.85	2.954992	0.53293	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.87571	-2.27;-2.27;-1.16	5.26	4.24	0.50183	.	0.669471	0.13207	N	0.405441	D	0.89574	0.6754	M	0.62723	1.935	0.28789	N	0.899433	D;D;D;D	0.65815	0.993;0.988;0.995;0.993	P;P;P;P	0.54499	0.615;0.52;0.754;0.713	T	0.83223	-0.0067	10	0.49607	T	0.09	.	11.951	0.52954	0.0:0.9153:0.0:0.0847	.	1058;1545;1546;1545	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	1545;1545;1546	ENSP00000441229:S1545L;ENSP00000334563:S1545L;ENSP00000386096:S1546L	ENSP00000334563:S1545L	S	+	2	0	MYO18B	24621213	0.652000	0.27349	0.965000	0.40720	0.189000	0.23516	2.018000	0.40991	1.242000	0.43836	-0.219000	0.12488	TCG		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26291213	C	T	26291213	3	4	13	1	0	0	0	0	1	0	0	0	10066	893	31	2	4740	2	MYO18B	22	26291213	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	10003702	26291213	25013353	79	967											
SF3A1	10291	broad.mit.edu	37	chr22	30738811	30738811	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatccaaaacttctcGggggttttcagcctctttct	7	15	7	12	1	4	1	1	1	3	0	6	1	5	1	3	2	3	1	3	2	3	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:30738811G>A	ENST00000215793.8	-	5	863	c.709C>T	c.(709-711)Cga>Tga	p.R237*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.R172*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	237					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAAACTTCTCGGGGGTTTTCA	0.408																																						uc003ahl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(709-711)Cga>Tga		Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.							97	100	99					22																	30738811		2203	4300	6503	SO:0001587	stop_gained	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30738811G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.709C>T	22.37:g.30738811G>A	ENSP00000215793:p.Arg237*					SF3A1_uc021wnt.1_Nonsense_Mutation_p.R172*	p.R237*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			4	841	-			237					E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	c.709C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804975	0.96967	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	5.33	4.26	0.50523	.	0.244896	0.38436	N	0.001697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-5.4	13.049	0.58944	0.0:0.0:0.7179:0.2821	.	.	.	.	X	172;237;134	.	ENSP00000215793:R237X	R	-	1	2	SF3A1	29068811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.781000	0.47750	2.654000	0.90174	0.561000	0.74099	CGA		0.408	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30738811	G	A	30738811	4	1	13	1	0	0	0	0	0	1	0	0	14146	1124	39	2	1720	2	SF3A1	22	30738811	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	4447598	30738811	20565755	80	968											
GGA1	26088	broad.mit.edu	37	chr22	38016850	38016850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaccccaagcttccagAtgacactacctttccccttc	8	10	5	18	1	0	2	0	1	0	1	4	3	3	2	7	0	2	1	7	0	2	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:38016850A>G	ENST00000343632.4	+	6	844	c.458A>G	c.(457-459)gAt>gGt	p.D153G	GGA1_ENST00000381756.5_Missense_Mutation_p.D170G|GGA1_ENST00000325180.8_Missense_Mutation_p.D153G|GGA1_ENST00000337437.4_Missense_Mutation_p.D120G|GGA1_ENST00000406772.1_Missense_Mutation_p.D80G	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	153	Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AAGCTTCCAGATGACACTACC	0.522																																						uc003atc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(457-459)gAt>gGt		Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.							160	130	140					22																	38016850		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38016850A>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.458A>G	22.37:g.38016850A>G	ENSP00000341344:p.Asp153Gly					GGA1_uc003ate.3_Missense_Mutation_p.D153G|GGA1_uc003atd.3_Missense_Mutation_p.D153G|GGA1_uc003atf.3_Missense_Mutation_p.D80G	p.D153G	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN			5	845	+	Melanoma(58;0.0574)		153			Interaction with ARF3.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.458A>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407562	0.42715	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000429218;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772;ENST00000413251;ENST00000423024	T;T;T;T;T;T	0.34072	2.36;2.1;2.42;1.45;1.43;1.38	5.56	5.56	0.83823	.	0.643940	0.16052	N	0.231930	T	0.34890	0.0913	L	0.55481	1.735	0.31061	N	0.714093	B;B;B	0.24368	0.038;0.102;0.002	B;B;B	0.26517	0.066;0.07;0.004	T	0.33343	-0.9872	10	0.27082	T	0.32	-5.9801	11.668	0.51385	0.852:0.148:0.0:0.0	.	170;153;153	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	G	153;170;80;153;120;145;80;80;80	ENSP00000341344:D153G;ENSP00000371175:D170G;ENSP00000321288:D153G;ENSP00000338647:D120G;ENSP00000390416:D145G;ENSP00000385287:D80G	ENSP00000321288:D153G	D	+	2	0	GGA1	36346796	0.776000	0.28616	0.708000	0.30435	0.978000	0.69477	2.449000	0.44935	2.102000	0.63906	0.460000	0.39030	GAT		0.522	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		G	38016850	A	G	38016850	3	3	13	1	0	0	0	0	1	0	0	0	6352	333	12	4	546	4	GGA1	22	38016850	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	7278039	38016850	13287716	81	969											
FTSJ1	24140	broad.mit.edu	37	chrX	48337070	48337070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctccactaccaggtgtggTacagatccagggggacatca	10	7	13	11	0	1	1	1	0	0	1	3	2	3	2	3	5	2	2	3	5	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chrX:48337070T>C	ENST00000348411.2	+	4	580	c.257T>C	c.(256-258)gTa>gCa	p.V86A	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000019019.2_Missense_Mutation_p.V86A|FTSJ1_ENST00000456787.1_Missense_Mutation_p.V86A	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCAGGTGTGGTACAGATCCAG	0.592																																						uc004djo.1																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(256-258)gTa>gCa		Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.							46	37	40					X																	48337070		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48337070T>C	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.257T>C	X.37:g.48337070T>C	ENSP00000326948:p.Val86Ala					FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	p.V86A	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			3	580	+			86						Missense_Mutation	SNP	ENST00000348411.2	37	c.257T>C	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	t	13.35	2.210815	0.39102	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.28895	1.59;1.59;1.59	5.12	3.91	0.45181	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.593826	0.17150	N	0.185099	T	0.29684	0.0741	L	0.46819	1.47	0.80722	D	1	B;B;B	0.14012	0.009;0.0;0.002	B;B;B	0.30716	0.119;0.056;0.008	T	0.05550	-1.0878	10	0.46703	T	0.11	-24.7952	8.6486	0.34020	0.0:0.0947:0.0:0.9053	.	86;86;86	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	A	86	ENSP00000019019:V86A;ENSP00000326948:V86A;ENSP00000415457:V86A	ENSP00000019019:V86A	V	+	2	0	FTSJ1	48222014	1.000000	0.71417	0.944000	0.38274	0.756000	0.42949	2.946000	0.49050	0.684000	0.31448	0.385000	0.25706	GTA		0.592	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			C	48337070	T	C	48337070	3	2	13	1	0	0	0	0	1	0	0	0	6087	1638	57	4	267	4	FTSJ1	23	48337070	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		48337070	106933490	82	970											
AADACL4	343066	broad.mit.edu	37	chr1	12726313	12726313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattgacctctcctggcGtgacgccatcttgaacggca	7	9	11	14	3	2	3	0	3	2	0	3	3	2	3	4	3	1	1	4	3	1	2	rs369427733		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:12726313G>A	ENST00000376221.1	+	4	791	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCTCCTGGCGTGACGCCATC	0.498																																						uc001auf.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(790-792)cGt>cAt		Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	140	137	138		791	-2.9	0	1		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	264/408	12726313	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726313G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.791G>A	1.37:g.12726313G>A	ENSP00000365395:p.Arg264His						p.R264H	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	791	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	264						Missense_Mutation	SNP	ENST00000376221.1	37	c.791G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263021	0.10294	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.58797	0.31	4.38	-2.91	0.05631	.	3.304730	0.00815	N	0.001532	T	0.37433	0.1003	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.13791	-1.0496	10	0.14656	T	0.56	0.0023	6.7474	0.23468	0.6682:0.0:0.1363:0.1955	.	264	Q5VUY2	ADCL4_HUMAN	H	264	ENSP00000365395:R264H	ENSP00000365395:R264H	R	+	2	0	AADACL4	12648900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.331000	0.02672	-0.392000	0.07751	-0.345000	0.07892	CGT		0.498	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		A	12726313	G	A	12726313	3	1	14	1	0	0	0	0	1	0	0	0	13	1145	40	1	805	1	AADACL4	1	12726313	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		12726313	236524308	1	971											
MCL1	4170	broad.mit.edu	37	chr1	150550855	150550856	+	Frame_Shift_Del	DEL	GA	GA	-																															acaaaggcaccaaaagaaatGagagtcacaatcctgcccca																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:150550855_150550856delGA	ENST00000369026.2	-	2	859_860	c.800_801delTC	c.(799-801)ctcfs	p.L267fs	MCL1_ENST00000464132.1_5'UTR|MCL1_ENST00000307940.3_Intron	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	267					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAAAAGAAATGAGAGTCACAAT	0.436																																						uc001euz.3																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(799-801)ctcfs		Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150550855_150550856delGA	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.800_801delTC	1.37:g.150550857_150550858delGA	ENSP00000358022:p.Leu267fs					MCL1_uc010pch.2_Frame_Shift_Del_p.L157fs|MCL1_uc021oyf.1_Frame_Shift_Del_p.L114fs|MCL1_uc001eva.3_Intron	p.L267fs	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	1008_1009	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		267					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Frame_Shift_Del	DEL	ENST00000369026.2	37	c.800_801delTC	CCDS957.1																																																																																				0.436	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		-	150550856	GA	-	150550855	7	5	14	1	0	1	0	1	0	0	0	0	9384	1277	45	0	270	0	MCL1	1	150550855	Frame_Shift_Del	DEL	GA	TCGA-06-0129-01A-01D-1490-08	137824542	150550855	98699766	2	972											
MDM4	4194	broad.mit.edu	37	chr1	204507404	204507404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgatatccccacactgcctaCctcagagcataaatgcatac	13	8	5	15	1	1	1	1	0	0	1	2	2	2	1	4	0	5	2	4	0	5	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:204507404C>G	ENST00000367182.3	+	7	641	c.479C>G	c.(478-480)aCc>aGc	p.T160S	MDM4_ENST00000391947.2_Nonsense_Mutation_p.Y137*|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Missense_Mutation_p.T160S|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	160					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)	p.T160S(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACACTGCCTACCTCAGAGCAT	0.393			A		"GBM, bladder, retinoblastoma"																																	uc001hba.3				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			"GBM, bladder, retinoblastoma"		1	Substitution - Missense(1)	p.T160S(2)|p.T160T(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(478-480)aCc>aGc		Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.							196	185	189					1																	204507404		2203	4300	6503	SO:0001583	missense	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204507404C>G	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"mouse double minute 4, human homolog of; p53-binding protein", "Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)", "Mdm4 p53 binding protein homolog (mouse)"			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.479C>G	1.37:g.204507404C>G	ENSP00000356150:p.Thr160Ser					MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Missense_Mutation_p.T33S|MDM4_uc001hay.2_Missense_Mutation_p.T160S|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.T33S|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	p.T160S	NM_002393	NP_002384	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		6	645	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		160					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.479C>G	CCDS1447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.324276|4.324276	0.81580|0.81580	.|.	.|.	ENSG00000198625|ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367179|ENST00000543518;ENST00000391947	T;T;T|.	0.50277|.	1.5;1.45;0.75|.	5.76|5.76	4.83|4.83	0.62350|0.62350	.|.	0.613450|.	0.19412|.	N|.	0.114904|.	T|.	0.53658|.	0.1810|.	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	A|A	1|1	D;P|.	0.89917|.	1.0;0.7|.	D;B|.	0.80764|.	0.994;0.228|.	T|.	0.54536|.	-0.8279|.	9|.	0.25751|0.02654	T|T	0.34|1	-3.5541|-3.5541	13.9404|13.9404	0.64052|0.64052	0.1523:0.8477:0.0:0.0|0.1523:0.8477:0.0:0.0	.|.	160;160|.	O15151;Q2M2Y2|.	MDM4_HUMAN;.|.	S|X	160;160;45|150;137	ENSP00000356150:T160S;ENSP00000396840:T160S;ENSP00000356147:T45S|.	ENSP00000356147:T45S|ENSP00000375811:Y137X	T|Y	+|+	2|3	0|2	MDM4|MDM4	202774027|202774027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	3.457000|3.457000	0.53007|0.53007	1.388000|1.388000	0.46506|0.46506	0.591000|0.591000	0.81541|0.81541	ACC|TAC		0.393	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		G	204507404	C	G	204507404	3	3	14	1	0	0	0	0	1	0	0	0	9414	507	18	5	501	5	MDM4	1	204507404	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	53956549	204507404	44743217	3	973											
CR1L	1379	broad.mit.edu	37	chr1	207868047	207868047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggccctcccatgtgaaGtgccaggccctgaacaaatg	12	6	11	12	0	0	2	0	2	0	0	1	2	1	2	4	2	2	0	4	2	4	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:207868047G>T	ENST00000508064.2	+	5	873	c.813G>T	c.(811-813)aaG>aaT	p.K271N	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	271	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATGTGAAGTGCCAGGCCC	0.507																																						uc001hga.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(811-813)aaG>aaT		Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.							100	103	102					1																	207868047		1951	4147	6098	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207868047G>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.813G>T	1.37:g.207868047G>T	ENSP00000421736:p.Lys271Asn					CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	p.K271N	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			4	934	+			271			Sushi 4.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.813G>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163321	0.00318	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.65364	-0.15	2.38	-4.75	0.03239	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.43656	0.1257	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.22753	0.041	T	0.11991	-1.0565	9	0.26408	T	0.33	.	0.4213	0.00456	0.1934:0.2814:0.2287:0.2964	.	271	Q2VPA4	CR1L_HUMAN	N	271	ENSP00000421736:K271N	ENSP00000434864:K215N	K	+	3	2	CR1L	205934670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.957000	0.00166	-4.323000	0.00056	-2.929000	0.00088	AAG		0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		T	207868047	G	T	207868047	3	4	14	1	0	0	0	0	1	0	0	0	3841	1020	36	5	831	5	CR1L	1	207868047	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	3360643	207868047	41382574	4	974											
USH2A	7399	broad.mit.edu	37	chr1	216052218	216052218	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtacggtggggtgagTggtaacataggtaggtaaac	11	9	17	4	1	0	2	0	2	0	0	0	2	0	2	0	7	3	4	0	7	6	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:216052218T>G	ENST00000307340.3	-	42	8832	c.8446A>C	c.(8446-8448)Act>Cct	p.T2816P	USH2A_ENST00000366943.2_Missense_Mutation_p.T2816P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2816	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGGGTGAGTGGTAACATAG	0.458										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8446-8448)Act>Cct		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							168	152	157					1																	216052218		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052218T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8446A>C	1.37:g.216052218T>G	ENSP00000305941:p.Thr2816Pro	HNSCC(13;0.011)					p.T2816P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8833	-			2816					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8446A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354255	0.82243	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62232	0.04;0.04	5.9	5.9	0.94986	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000295	D	0.84977	0.5592	H	0.94183	3.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88832	0.3306	10	0.62326	D	0.03	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	2816	O75445	USH2A_HUMAN	P	2816	ENSP00000305941:T2816P;ENSP00000355910:T2816P	ENSP00000305941:T2816P	T	-	1	0	USH2A	214118841	1.000000	0.71417	0.881000	0.34555	0.736000	0.42039	7.456000	0.80751	2.251000	0.74343	0.528000	0.53228	ACT		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216052218	T	G	216052218	3	3	14	1	0	0	0	0	1	0	0	0	17033	1696	59	5	7286	5	USH2A	1	216052218	Missense_Mutation	SNP	T	TCGA-06-0129-01A-01D-1490-08	8184171	216052218	33198403	5	975											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9547680	9547681	+	Frame_Shift_Del	DEL	AC	AC	-																															gcccccagaccgtcatcgtaAcacaccatccggattattaa																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:9547680_9547681delAC	ENST00000360635.3	-	7	1324_1325	c.428_429delGT	c.(427-429)tgtfs	p.C143fs	ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000456913.2_Frame_Shift_Del_p.C143fs|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Frame_Shift_Del_p.C143fs|ITGB1BP1_ENST00000355346.4_Frame_Shift_Del_p.C143fs|ITGB1BP1_ENST00000238091.4_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	143	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CGTCATCGTAACACACCATCCG	0.48																																						uc002qzj.3																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(427-429)tgtfs		Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9547680_9547681delAC	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.428_429delGT	2.37:g.9547684_9547685delAC	ENSP00000353850:p.Cys143fs					ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Intron|ITGB1BP1_uc002qzl.3_Intron|ITGB1BP1_uc010yiy.2_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs	p.C143fs	NM_004763	NP_004754	O14713	ITBP1_HUMAN		Epithelial(75;0.23)	5	605_606	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		143			PID.		D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	ENST00000360635.3	37	c.428_429delGT	CCDS1662.1																																																																																				0.48	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		-	9547681	AC	-	9547680	7	5	14	1	0	1	0	1	0	0	0	0	7891	41	2	0	181	0	ITGB1BP1	2	9547680	Frame_Shift_Del	DEL	AC	TCGA-06-0129-01A-01D-1490-08		9547680	233651693	6	976											
OLA1	29789	broad.mit.edu	37	chr2	174945887	174945887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatgaatcttaccctgatgGtccatgcacgcacttcatct	9	13	7	12	1	3	2	1	2	2	0	4	2	4	2	2	1	2	3	2	1	3	3	rs369856909		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:174945887G>C	ENST00000409546.1	-	9	1649	c.1019C>G	c.(1018-1020)aCc>aGc	p.T340S	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000284719.3_Missense_Mutation_p.T320S|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000344357.5_Missense_Mutation_p.T162S					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TACCCTGATGGTCCATGCACG	0.418																																						uc002uih.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(958-960)aCc>aGc		Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.							82	74	77					2																	174945887		2203	4299	6502	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174945887G>C		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.1019C>G	2.37:g.174945887G>C	ENSP00000386350:p.Thr340Ser					OLA1_uc002uii.3_Missense_Mutation_p.T162S|OLA1_uc010fqq.3_Missense_Mutation_p.T299S|OLA1_uc010fqr.3_Intron	p.T320S	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN			8	1145	-			320						Missense_Mutation	SNP	ENST00000409546.1	37	c.959C>G		.	.	.	.	.	.	.	.	.	.	G	18.32	3.598489	0.66332	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T;T	0.20200	2.09;2.09;2.09	6.07	6.07	0.98685	Domain of unknown function DUF933 (1);TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.88704	2.975	0.80722	D	1	P;D;P	0.57571	0.552;0.98;0.552	P;P;P	0.53102	0.594;0.718;0.594	T	0.55636	-0.8110	10	0.72032	D	0.01	-5.0604	20.6593	0.99626	0.0:0.0:1.0:0.0	.	320;162;320	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	S	320;162;340	ENSP00000284719:T320S;ENSP00000340167:T162S;ENSP00000386350:T340S	ENSP00000284719:T320S	T	-	2	0	OLA1	174654133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.885000	0.99019	0.655000	0.94253	ACC		0.418	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		C	174945887	G	C	174945887	3	2	14	1	0	0	0	0	1	0	0	0	10850	1261	44	5	243	5	OLA1	2	174945887	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	165398207	174945887	68253486	7	977											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	14	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	34167225	209113112	34086261	8	978											
PROS1	5627	broad.mit.edu	37	chr3	93611922	93611922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattctgcgtacagtatcAcgccttctgaatcatatgtc	10	14	7	10	2	4	2	2	1	2	1	5	2	4	2	1	0	2	2	1	0	5	6			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:93611922A>G	ENST00000394236.3	-	10	1326	c.1010T>C	c.(1009-1011)gTg>gCg	p.V337A	PROS1_ENST00000407433.1_Missense_Mutation_p.V206A	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	337	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTACAGTATCACGCCTTCTGA	0.398																																						uc003drb.4																			0		p.V337M(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1009-1011)gTg>gCg		Homo sapiens protein S (alpha) (PROS1), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						73	68	70					3																	93611922		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611922A>G		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1010T>C	3.37:g.93611922A>G	ENSP00000377783:p.Val337Ala					PROS1_uc010hoo.3_Missense_Mutation_p.V206A|PROS1_uc003dqz.4_Missense_Mutation_p.V206A	p.V337A	NM_000313	NP_000304	P07225	PROS_HUMAN			9	1351	-			337			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1010T>C	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097470	0.56075	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.81739	-1.53;-1.53	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.277488	0.33591	N	0.004752	D	0.83175	0.5197	M	0.84846	2.72	0.34507	D	0.706661	P	0.43938	0.822	B	0.42112	0.376	D	0.90689	0.4611	10	0.72032	D	0.01	.	13.9186	0.63916	1.0:0.0:0.0:0.0	.	337	P07225	PROS_HUMAN	A	337;206	ENSP00000377783:V337A;ENSP00000385794:V206A	ENSP00000377783:V337A	V	-	2	0	PROS1	95094612	0.949000	0.32298	0.990000	0.47175	0.242000	0.25591	8.507000	0.90522	1.886000	0.54624	0.477000	0.44152	GTG		0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		G	93611922	A	G	93611922	3	3	14	1	0	0	0	0	1	0	0	0	12558	159	6	4	1044	4	PROS1	3	93611922	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08		93611922	104410508	9	979											
C3orf22	152065	broad.mit.edu	37	chr3	126268815	126268815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttgtctggggaagcggcGactcagcaacttgagttccc	8	9	14	10	2	2	1	1	1	1	0	3	4	3	2	1	3	3	3	1	3	2	3			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:126268815G>A	ENST00000318225.2	-	4	700	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	108										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GGGAAGCGGCGACTCAGCAAC	0.632																																						uc003ejb.3																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7						c.(322-324)Cgc>Tgc		Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.							144	121	128					3																	126268815		2203	4300	6503	SO:0001583	missense	152065							g.chr3:126268815G>A		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.322C>T	3.37:g.126268815G>A	ENSP00000316644:p.Arg108Cys						p.R108C	NM_152533	NP_689746	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	651	-			108					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.322C>T	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223064	0.39300	.	.	ENSG00000180697	ENST00000318225	.	.	.	2.71	0.754	0.18410	.	1.252330	0.06138	N	0.671845	T	0.28732	0.0712	L	0.27053	0.805	0.09310	N	1	B	0.18310	0.027	B	0.06405	0.002	T	0.29488	-1.0010	9	0.62326	D	0.03	-1.8535	4.4737	0.11724	0.3635:0.0:0.6365:0.0	.	108	Q8N5N4	CC022_HUMAN	C	108	.	ENSP00000316644:R108C	R	-	1	0	C3orf22	127751505	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.051000	0.11885	0.178000	0.19917	-0.643000	0.03959	CGC		0.632	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		A	126268815	G	A	126268815	3	1	14	1	0	0	0	0	1	0	0	0	2215	1058	37	2	107	2	C3orf22	3	126268815	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	32656893	126268815	71753615	10	980											
CHST2	9435	broad.mit.edu	37	chr3	142841108	142841108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccgccaatgcctggCggaccgccctcaccttccag	6	5	11	19	4	1	0	1	0	0	0	2	1	2	1	7	3	1	1	7	3	1	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:142841108C>T	ENST00000309575.3	+	2	2834	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	484					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAATGCCTGGCGGACCGCCCT	0.607																																						uc003evm.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1450-1452)Cgg>Tgg		Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.							56	59	58					3																	142841108		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841108C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1450C>T	3.37:g.142841108C>T	ENSP00000307911:p.Arg484Trp					CHST2_uc021xex.1_Missense_Mutation_p.R484W	p.R484W	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			1	2389	+			484					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1450C>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457884	0.63401	.	.	ENSG00000175040	ENST00000309575	D	0.84370	-1.84	4.61	2.57	0.30868	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.91354	3.2	0.50467	D	0.999879	D	0.89917	1.0	D	0.78314	0.991	D	0.93094	0.6502	10	0.87932	D	0	-14.5726	10.9023	0.47059	0.5962:0.4038:0.0:0.0	.	484	Q9Y4C5	CHST2_HUMAN	W	484	ENSP00000307911:R484W	ENSP00000307911:R484W	R	+	1	2	CHST2	144323798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.485000	0.53208	1.102000	0.41551	0.514000	0.50259	CGG		0.607	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		T	142841108	C	T	142841108	3	4	14	1	0	0	0	0	1	0	0	0	3404	759	27	1	1452	1	CHST2	3	142841108	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	16572293	142841108	55181322	11	981											
ZNF721	170960	broad.mit.edu	37	chr4	437518	437518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttacatttgtagggtttCtctccagtatgaattttctc	7	19	6	9	0	2	1	0	1	2	0	6	1	4	1	2	1	1	3	2	1	4	7			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:437518C>G	ENST00000338977.5	-	2	750	c.702G>C	c.(700-702)gaG>gaC	p.E234D	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E246D|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTAGGGTTTCTCTCCAGTAT	0.368																																						uc003gaf.4																			0											c.(832-834)gaG>gaC		Homo sapiens zinc finger protein 721 (ZNF721), mRNA.							51	55	53					4																	437518		2131	4254	6385	SO:0001583	missense	170960							g.chr4:437518C>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.702G>C	4.37:g.437518C>G	ENSP00000340524:p.Glu234Asp					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.E246D|ABCA11P_uc010ibe.3_Missense_Mutation_p.E234D	p.E278D	NM_133474	NP_597731					2	1060	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.834G>C		.	.	.	.	.	.	.	.	.	.	C	13.44	2.238345	0.39598	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.26810	1.71;1.71	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16385	0.0394	L	0.31294	0.92	0.21064	N	0.999791	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.17722	0.019;0.002;0.001	T	0.24512	-1.0158	9	0.56958	D	0.05	.	3.6995	0.08378	0.0:0.7326:0.0:0.2674	.	234;246;246	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	234;246	ENSP00000340524:E234D;ENSP00000428878:E246D	ENSP00000340524:E234D	E	-	3	2	ZNF721	427518	0.143000	0.22626	0.004000	0.12327	0.007000	0.05969	0.205000	0.17356	0.677000	0.31305	0.194000	0.17425	GAG		0.368	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		G	437518	C	G	437518	3	3	14	1	0	0	0	0	1	0	0	0	18119	912	32	5	2037	5	ZNF721	4	437518	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		437518	190716758	12	982											
FAM193A	8603	broad.mit.edu	37	chr4	2661629	2661629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacatccacattcaccagctCccacttcaagtggatcctgc	10	9	6	16	0	2	0	2	0	0	0	5	2	5	1	4	1	2	1	4	1	1	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:2661629C>T	ENST00000324666.5	+	8	1071	c.720C>T	c.(718-720)ctC>ctT	p.L240L	FAM193A_ENST00000505311.1_Silent_p.L240L|FAM193A_ENST00000545951.1_Silent_p.L240L|FAM193A_ENST00000502458.1_Silent_p.L264L|FAM193A_ENST00000382839.3_Silent_p.L240L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	240										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTCACCAGCTCCCACTTCAAG	0.562																																						uc010ick.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1318-1320)ctC>ctT		Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.							145	124	131					4																	2661629		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2661629C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.720C>T	4.37:g.2661629C>T						FAM193A_uc003gfd.3_Silent_p.L240L|FAM193A_uc011bvm.2_Silent_p.L264L|FAM193A_uc011bvn.2_Silent_p.L240L|FAM193A_uc010icl.3_Silent_p.L240L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L94L	p.L440L	NM_003704	NP_003695	P78312	F193A_HUMAN			8	1321	+			240					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.1320C>T	CCDS58875.1																																																																																				0.562	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		T	2661629	C	T	2661629	2	4	14	1	0	0	0	0	0	0	0	1	5524	842	30	3		3	FAM193A	4	2661629	Silent	SNP	C	TCGA-06-0129-01A-01D-1490-08	2224111	2661629	188492647	13	983											
ZNF518B	85460	broad.mit.edu	37	chr4	10446518	10446518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaccttttaaggcaaCggaaggaaaagcagttctat	16	9	10	6	1	1	2	0	1	1	1	1	4	1	4	1	3	2	3	1	3	7	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:10446518C>T	ENST00000326756.3	-	3	1873	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	479					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTAAGGCAACGGAAGGAAAA	0.348																																						uc003gmn.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(1435-1437)Gtt>Att		Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.							69	73	72					4																	10446518		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446518C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1435G>A	4.37:g.10446518C>T	ENSP00000317614:p.Val479Ile					ZNF518B_uc021xme.1_Missense_Mutation_p.V479I	p.V479I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			2	1922	-			479					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1435G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993147	0.19043	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	5.43	-10.9	0.00192	.	3.129350	0.00988	N	0.003480	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38950	-0.9637	10	0.17832	T	0.49	0.0151	6.0942	0.20010	0.1784:0.3061:0.4396:0.0759	.	479	Q9C0D4	Z518B_HUMAN	I	479	ENSP00000317614:V479I	ENSP00000317614:V479I	V	-	1	0	ZNF518B	10055616	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-3.738000	0.00379	-4.133000	0.00071	-0.961000	0.02630	GTT		0.348	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		T	10446518	C	T	10446518	3	4	14	1	0	0	0	0	1	0	0	0	17960	536	19	1	1793	1	ZNF518B	4	10446518	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	7784889	10446518	180707758	14	984											
EXOC1	55763	broad.mit.edu	37	chr4	56750010	56750010	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attacatggattatttatccCgactatatgaaagagaaatc	16	13	6	6	1	0	2	0	1	0	1	2	5	1	3	1	1	1	0	1	1	7	6			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:56750010C>T	ENST00000381295.2	+	10	1594	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	RNU6-652P_ENST00000365488.1_RNA|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.R416*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.R416*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	416					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTATTTATCCCGACTATATGA	0.299																																						uc003hbe.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1246-1248)Cga>Tga		Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.							43	45	44					4																	56750010		2203	4298	6501	SO:0001587	stop_gained	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56750010C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1246C>T	4.37:g.56750010C>T	ENSP00000370695:p.Arg416*					EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*|U6_uc021xoo.1_5'Flank	p.R416*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			9	1404	+	Glioma(25;0.08)|all_neural(26;0.101)		416					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Nonsense_Mutation	SNP	ENST00000381295.2	37	c.1246C>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	42	9.594888	0.99214	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.91	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	17.8119	0.88619	0.1303:0.8697:0.0:0.0	.	.	.	.	X	416	.	ENSP00000326514:R416X	R	+	1	2	EXOC1	56444767	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.795000	0.47861	2.805000	0.96524	0.460000	0.39030	CGA		0.299	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		T	56750010	C	T	56750010	4	4	14	1	0	0	0	0	0	1	0	0	5301	644	23	2	1280	2	EXOC1	4	56750010	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	46303492	56750010	134404266	15	985											
PIK3R1	5295	broad.mit.edu	37	chr5	67591126	67591127	+	Frame_Shift_Del	DEL	GA	GA	-																															aaaccagaccttatccagctGagaaagacgagagaccaata																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:67591126_67591127delGA	ENST00000521381.1	+	13	2335_2336	c.1719_1720delGA	c.(1717-1722)ctgagafs	p.R574fs	PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.R211fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.R574fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.R304fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.R574fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.R574fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.R274fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	574					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTATCCAGCTGAGAAAGACGAG	0.381			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		5	Deletion - In frame(3)|Whole gene deletion(1)|Unknown(1)	p.R574_T576del(4)|p.L570_D578del(2)|p.L573P(2)|p.R574T(2)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)|p.L570_Q572del(1)	endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1717-1722)ctgagafs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591126_67591127delGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1719_1720delGA	5.37:g.67591128_67591129delGA	ENSP00000428056:p.Arg574fs	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.L252fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.L210fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.L243fs	p.L573fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2299_2300	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	573					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.1719_1720delGA	CCDS3993.1																																																																																				0.381	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67591127	GA	-	67591126	7	5	14	1	0	1	0	1	0	0	0	0	11918	1277	45	0	1895	0	PIK3R1	5	67591126	Frame_Shift_Del	DEL	GA	TCGA-06-0129-01A-01D-1490-08		67591126	113324134	16	986											
SLC12A2	6558	broad.mit.edu	37	chr5	127420118	127420118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctgaagacagcctgtcaGatgctgccggggtcggagtc	7	7	16	11	3	1	3	1	1	0	2	3	4	1	4	2	4	3	2	2	4	1	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:127420118G>C	ENST00000262461.2	+	1	661	c.472G>C	c.(472-474)Gat>Cat	p.D158H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.D158H|CTC-228N24.3_ENST00000501702.2_lincRNA	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	158					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CAGCCTGTCAGATGCTGCCGG	0.692																																						uc003kus.3																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(472-474)Gat>Cat		Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						24	23	23					5																	127420118		2199	4300	6499	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127420118G>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.472G>C	5.37:g.127420118G>C	ENSP00000262461:p.Asp158His					FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.D158H	p.D158H	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	0	636	+		all_cancers(142;0.0972)|Prostate(80;0.151)	158					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.472G>C	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108071	0.37242	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86297	-2.09;-2.1	3.69	2.82	0.32997	.	0.435017	0.20757	N	0.086230	T	0.78666	0.4319	L	0.29908	0.895	0.37659	D	0.922695	B;P	0.38863	0.372;0.65	B;B	0.38755	0.281;0.19	T	0.78420	-0.2211	10	0.62326	D	0.03	.	7.4841	0.27421	0.2291:0.0:0.7709:0.0	.	158;158	P55011-3;P55011	.;S12A2_HUMAN	H	158	ENSP00000262461:D158H;ENSP00000340878:D158H	ENSP00000262461:D158H	D	+	1	0	SLC12A2	127448017	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.627000	0.46469	0.880000	0.35969	0.467000	0.42956	GAT		0.692	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		C	127420118	G	C	127420118	3	2	14	1	0	0	0	0	1	0	0	0	14383	942	33	5	474	5	SLC12A2	5	127420118	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	59828992	127420118	53495142	17	987											
MYOZ3	91977	broad.mit.edu	37	chr5	150050115	150050115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggagctgtcactacGcaacaacagagggtccctcc	11	6	12	12	1	1	1	1	0	0	1	3	4	3	3	2	3	4	2	2	3	3	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:150050115G>A	ENST00000297130.4	+	3	330	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R44H|MYOZ3_ENST00000520112.1_5'Flank	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCACTACGCAACAACAGA	0.612																																						uc003lss.2																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(130-132)cGc>cAc		Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.							58	44	49					5																	150050115		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150050115G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.131G>A	5.37:g.150050115G>A	ENSP00000297130:p.Arg44His					MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	p.R44H	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	718	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	44						Missense_Mutation	SNP	ENST00000297130.4	37	c.131G>A	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079772	0.55753	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.64085	-0.08;-0.08	4.74	4.74	0.60224	.	0.110971	0.38720	N	0.001591	T	0.64627	0.2615	L	0.60455	1.87	0.09310	N	0.999996	D	0.58620	0.983	P	0.53490	0.727	T	0.56329	-0.7997	10	0.13853	T	0.58	-26.6191	11.5347	0.50631	0.0:0.181:0.819:0.0	.	44	Q8TDC0	MYOZ3_HUMAN	H	44	ENSP00000428815:R44H;ENSP00000297130:R44H	ENSP00000297130:R44H	R	+	2	0	MYOZ3	150030308	0.000000	0.05858	0.687000	0.30102	0.961000	0.63080	0.002000	0.13061	2.335000	0.79485	0.555000	0.69702	CGC		0.612	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		A	150050115	G	A	150050115	3	1	14	1	0	0	0	0	1	0	0	0	10097	1087	38	1	137	1	MYOZ3	5	150050115	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	22629997	150050115	30865145	18	988											
PSMB8	5696	broad.mit.edu	37	chr6	32809494	32809494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcccatgttcatccaCgtagtagagtccaggaccct	9	9	9	14	2	1	1	1	0	0	1	4	3	4	2	5	1	0	3	5	1	2	3	rs78945358	byFrequency	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:32809494C>T	ENST00000374882.3	-	5	606	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	PSMB9_ENST00000395330.1_5'Flank|TAP2_ENST00000374899.4_5'Flank|PSMB8_ENST00000374881.2_Missense_Mutation_p.V182M|PSMB8_ENST00000395339.3_Missense_Mutation_p.V162M|TAPSAR1_ENST00000453426.1_lincRNA|TAP2_ENST00000452392.2_5'Flank|TAP2_ENST00000374897.2_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TGTTCATCCACGTAGTAGAGT	0.463													C|||	3	0.000599042	8e-04	0	5008	,	,		19678	0.002		0	False		,,,				2504	0				NSCLC(48;53 1172 10859 13624 22883)	uc003oce.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						c.(556-558)Gtg>Atg		Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.							121	136	131					6																	32809494		1510	2708	4218	SO:0001583	missense	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32809494C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.556G>A	6.37:g.32809494C>T	ENSP00000364016:p.Val186Met					TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.V182M|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	p.V186M	NM_148919	NP_683720	P28062	PSB8_HUMAN			4	599	-			186					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.556G>A	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610218	0.87258	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.25414	1.8;1.8;1.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	T	0.67126	-0.5749	10	0.87932	D	0	-29.3793	15.9037	0.79403	0.0:1.0:0.0:0.0	.	182;186	P28062-2;P28062	.;PSB8_HUMAN	M	162;186;182	ENSP00000378748:V162M;ENSP00000364016:V186M;ENSP00000364015:V182M	ENSP00000364015:V182M	V	-	1	0	PSMB8	32917472	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	5.208000	0.65203	2.335000	0.79485	0.643000	0.83706	GTG		0.463	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		T	32809494	C	T	32809494	3	4	14	1	0	0	0	0	1	0	0	0	12683	536	19	1	282	1	PSMB8	6	32809494	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		32809494	138305573	19	989											
CCND3	896	broad.mit.edu	37	chr6	41903737	41903738	+	Frame_Shift_Ins	INS	-	-	G																															tggctgggcccttggctgctINSggagccccggggggctttgg																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:41903737_41903738insG	ENST00000372991.4	-	5	1017_1018	c.819_820insC	c.(817-822)tccagcfs	p.S274fs	CCND3_ENST00000372988.4_Frame_Shift_Ins_p.S193fs|CCND3_ENST00000511642.1_Frame_Shift_Ins_p.S193fs|CCND3_ENST00000510503.1_Frame_Shift_Ins_p.Q147fs|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000415497.2_Frame_Shift_Ins_p.S78fs|CCND3_ENST00000372987.4_Frame_Shift_Ins_p.S224fs|CCND3_ENST00000414200.2_Frame_Shift_Ins_p.S202fs	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	274					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTGGCTGCTGGAGCCCCGGG	0.649			T	IGH@	MM																																	uc003orn.3				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0				endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20						c.(817-822)tccagcfs		Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41903737_41903738insG		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.820dupC	6.37:g.41903739_41903739dupG	ENSP00000362082:p.Ser274fs					CCND3_uc003orp.3_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.2_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.3_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.3_Frame_Shift_Ins_p.S201fs	p.S273fs	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	984_985	-	Colorectal(47;0.121)		273					B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Frame_Shift_Ins	INS	ENST00000372991.4	37	c.819_820insC	CCDS4863.1																																																																																				0.649	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		G	41903738	-	G	41903737	7	5	14	1	0	1	1	0	0	0	0	0	2918	1580	55	0	62	0	CCND3	6	41903737	Frame_Shift_Ins	INS	-	TCGA-06-0129-01A-01D-1490-08	9094243	41903737	129211330	20	990											
FABP7	2173	broad.mit.edu	37	chr6	123101455	123101455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgtgggctttgccactagGcaggtgggaaatgtgaccaa	9	8	16	8	1	0	1	0	1	0	0	0	2	0	2	2	5	1	2	2	5	3	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:123101455G>A	ENST00000368444.3	+	2	413	c.93G>A	c.(91-93)agG>agA	p.R31R	FABP7_ENST00000356535.4_Silent_p.R31R	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	31					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	TTGCCACTAGGCAGGTGGGAA	0.448																																						uc003pzf.3																			0				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(91-93)agG>agA		Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)						81	77	78					6																	123101455		2203	4300	6503	SO:0001819	synonymous_variant	2173				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	g.chr6:123101455G>A	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"Fatty acid binding protein family"	3562	protein-coding gene	gene with protein product	"brain lipid binding protein"	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.93G>A	6.37:g.123101455G>A						FABP7_uc003pzd.3_Silent_p.R31R|FABP7_uc003pze.1_Silent_p.R31R	p.R31R	NM_001446	NP_001437	O15540	FABP7_HUMAN		GBM - Glioblastoma multiforme(226;0.226)	1	387	+			31					B2R4L1|O14951|Q6IAU7|Q9H047	Silent	SNP	ENST00000368444.3	37	c.93G>A	CCDS5127.1																																																																																				0.448	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446		A	123101455	G	A	123101455	2	1	14	1	0	0	0	0	0	0	0	1	5362	1194	42	3		3	FABP7	6	123101455	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	81197718	123101455	48013612	21	991											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657586	95657586	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgggacaatcgcagtcatCgaaggactccagtgcagcgg	10	7	13	11	3	2	0	1	0	1	0	5	3	3	2	1	3	2	2	1	3	2	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr7:95657586C>T	ENST00000324972.6	+	11	1313	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.R357*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.R337*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.R354*|DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.R357*|DYNC1I1_ENST00000537881.1_Nonsense_Mutation_p.R337*	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	374					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCGCAGTCATCGAAGGACTCC	0.547																																						uc003uoc.4																			0		p.H373L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1120-1122)Cga>Tga		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							174	148	157					7																	95657586		2203	4300	6503	SO:0001587	stop_gained	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95657586C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1120C>T	7.37:g.95657586C>T	ENSP00000320130:p.Arg374*					DYNC1I1_uc003uod.4_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.3_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.4_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.3_Nonsense_Mutation_p.R363*	p.R374*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		10	1397	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		374					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Nonsense_Mutation	SNP	ENST00000324972.6	37	c.1120C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529443	0.85706	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	.	.	.	5.04	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.5713	12.1078	0.53821	0.4699:0.5301:0.0:0.0	.	.	.	.	X	357;374;337;354;337;357	.	ENSP00000320130:R374X	R	+	1	2	DYNC1I1	95495522	0.998000	0.40836	1.000000	0.80357	0.615000	0.37417	1.364000	0.34171	1.479000	0.48272	0.585000	0.79938	CGA		0.547	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95657586	C	T	95657586	4	4	14	1	0	0	0	0	0	1	0	0	4842	876	31	2	1158	2	DYNC1I1	7	95657586	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		95657586	63481077	22	992											
JPH1	56704	broad.mit.edu	37	chr8	75156952	75156952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggaagactggctggAtccatcgccgtcctccacgt	7	9	12	13	3	0	2	0	1	0	1	4	4	3	4	4	3	1	2	4	3	1	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr8:75156952A>G	ENST00000342232.4	-	4	1757	c.1717T>C	c.(1717-1719)Tcc>Ccc	p.S573P	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	573					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GACTGGCTGGATCCATCGCCG	0.552																																						uc003yae.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1717-1719)Tcc>Ccc		Homo sapiens junctophilin 1 (JPH1), mRNA.							138	129	132					8																	75156952		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75156952A>G	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1717T>C	8.37:g.75156952A>G	ENSP00000344488:p.Ser573Pro					JPH1_uc003yaf.3_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	p.S573P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1757	-	Breast(64;0.00576)		573					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1717T>C	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	A	9.889	1.203695	0.22121	.	.	ENSG00000104369	ENST00000342232	T	0.57752	0.38	5.38	-7.51	0.01346	.	1.449530	0.05134	N	0.493170	T	0.24699	0.0599	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09930	-1.0652	10	0.20519	T	0.43	.	1.2139	0.01910	0.2053:0.2577:0.3156:0.2214	.	573	Q9HDC5	JPH1_HUMAN	P	573	ENSP00000344488:S573P	ENSP00000344488:S573P	S	-	1	0	JPH1	75319506	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	0.554000	0.23407	-1.015000	0.03375	0.533000	0.62120	TCC		0.552	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			G	75156952	A	G	75156952	3	3	14	1	0	0	0	0	1	0	0	0	7960	333	12	4	276	4	JPH1	8	75156952	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08		75156952	71207070	23	993											
CRTAC1	55118	broad.mit.edu	37	chr10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcgcaggctgtgacccCgatggcgttcccctgccggt	4	9	14	14	4	0	1	0	1	0	0	2	3	1	1	5	3	1	3	5	3	0	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:99696002C>T	ENST00000370597.3	-	3	701	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G116R|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G116R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	116						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGACCCCGATGGCGTTC	0.632																																						uc001kou.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(346-348)Ggg>Agg		Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.							75	58	64					10																	99696002		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696002C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.346G>A	10.37:g.99696002C>T	ENSP00000359629:p.Gly116Arg					CRTAC1_uc001kov.3_Missense_Mutation_p.G116R|CRTAC1_uc001kot.2_5'UTR	p.G116R	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	2	702	-		Colorectal(252;0.24)	116					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.346G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515736	0.85495	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69577	-0.5108	10	0.87932	D	0	-20.2376	17.7666	0.88480	0.0:1.0:0.0:0.0	.	116;116	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	R	12;116;116;108;116	ENSP00000408445:G12R;ENSP00000359629:G116R;ENSP00000298819:G116R;ENSP00000310810:G108R;ENSP00000359623:G116R	ENSP00000298819:G116R	G	-	1	0	CRTAC1	99685992	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	7.709000	0.84645	2.204000	0.70986	0.313000	0.20887	GGG		0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		T	99696002	C	T	99696002	3	4	14	1	0	0	0	0	1	0	0	0	3896	652	23	2	1691	2	CRTAC1	10	99696002	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		99696002	35838745	24	994											
C10orf46	143384	broad.mit.edu	37	chr10	120513921	120513923	+	In_Frame_Del	DEL	GGA	GGA	-																															gactcacagaacttggaggtGgaggtgttgatgttgatggt																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:120513921_120513923delGGA	ENST00000369151.3	-	1	835_837	c.352_354delTCC	c.(352-354)tccdel	p.S118del	CACUL1_ENST00000340214.4_In_Frame_Del_p.S118del	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	118					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										ACTTGGAGGTGGAGGTGTTGATG	0.621																																						uc001lds.1																			0				endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(352-354)tccdel		Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.																																				SO:0001651	inframe_deletion	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120513921_120513923delGGA	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.352_354delTCC	10.37:g.120513921_120513923delGGA	ENSP00000358147:p.Ser118del					C10orf46_uc010qst.1_Non-coding_Transcript	p.S118del	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	0	836_838	-		Lung NSC(174;0.142)|all_lung(145;0.175)	118					Q5XPL7|Q8IY11|Q8N7S4	In_Frame_Del	DEL	ENST00000369151.3	37	c.352_354delTCC	CCDS41570.1																																																																																				0.621	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		-	120513923	GGA	-	120513921	7	5	14	1	0	1	0	1	0	0	0	0	1604	1335	47	0	791	0	C10orf46	10	120513921	In_Frame_Del	DEL	GGA	TCGA-06-0129-01A-01D-1490-08	20817919	120513921	15020826	25	995											
LRRC56	115399	broad.mit.edu	37	chr11	544759	544759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccaactgaagctgaacgGcagccacctgggctccctga	10	5	12	14	1	0	3	0	3	0	0	1	4	1	4	4	3	4	3	4	3	3	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:544759G>A	ENST00000270115.7	+	6	805	c.305G>A	c.(304-306)gGc>gAc	p.G102D		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	102										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGCTGAACGGCAGCCACCTG	0.701																																						uc010qvz.2																			0				kidney(1)|lung(4)|skin(1)	6						c.(304-306)gGc>gAc		Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.							42	40	40					11																	544759		2203	4299	6502	SO:0001583	missense	115399							g.chr11:544759G>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.305G>A	11.37:g.544759G>A	ENSP00000270115:p.Gly102Asp						p.G102D	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	810	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	102					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.305G>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572841	0.28092	.	.	ENSG00000161328	ENST00000270115	T	0.25414	1.8	4.24	1.27	0.21489	.	0.289487	0.35903	N	0.002907	T	0.15652	0.0377	L	0.47716	1.5	0.33837	D	0.630975	B	0.24132	0.098	B	0.15052	0.012	T	0.20706	-1.0267	10	0.10377	T	0.69	-18.792	5.615	0.17426	0.464:0.0:0.536:0.0	.	102	Q8IYG6	LRC56_HUMAN	D	102	ENSP00000270115:G102D	ENSP00000270115:G102D	G	+	2	0	LRRC56	534759	0.997000	0.39634	0.957000	0.39632	0.648000	0.38561	0.845000	0.27668	0.522000	0.28464	0.491000	0.48974	GGC		0.701	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		A	544759	G	A	544759	3	1	14	1	0	0	0	0	1	0	0	0	9012	1203	42	3	315	3	LRRC56	11	544759	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		544759	134461757	26	996											
SLC22A25	387601	broad.mit.edu	37	chr11	62995959	62995959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatggccatataggttGcctcccaccatcattccagc	11	9	7	14	0	1	0	1	0	0	0	3	1	3	0	5	2	2	1	5	2	3	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:62995959G>A	ENST00000306494.6	-	2	479	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SLC22A25_ENST00000403374.2_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CATATAGGTTGCCTCCCACCA	0.408																																						uc001nwr.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(478-480)ggC>ggT		Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.							115	101	106					11																	62995959		2201	4298	6499	SO:0001819	synonymous_variant	387601				transmembrane transport	integral to membrane		g.chr11:62995959G>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.480C>T	11.37:g.62995959G>A						SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	p.G160G	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			1	480	-			160						Silent	SNP	ENST00000306494.6	37	c.480C>T	CCDS31592.1																																																																																				0.408	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		A	62995959	G	A	62995959	2	1	14	1	0	0	0	0	0	0	0	1	14454	1306	46	3		3	SLC22A25	11	62995959	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	62451200	62995959	72010557	27	997											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2																			1	Deletion - In frame(1)	p.K226delK(2)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)aagdel		Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.				5,3619		2,1,1809						4.9	1			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	p.K226del	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			0	939_941	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		-	85375244	CTT	-	85375242	7	5	14	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-06-0129-01A-01D-1490-08	22379283	85375242	49631274	28	998											
EXPH5	23086	broad.mit.edu	37	chr11	108382300	108382300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggacatctttagattttCacatgaaggtgttcctgact	10	14	9	8	1	2	3	1	2	1	1	3	5	3	4	1	2	0	1	1	2	2	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:108382300C>T	ENST00000265843.4	-	6	4044	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	EXPH5_ENST00000428840.1_Missense_Mutation_p.E1236K|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1305K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E1124K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1312					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAGATTTTCACATGAAGGT	0.413																																						uc001pkk.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3934-3936)Gaa>Aaa		Homo sapiens exophilin 5 (EXPH5), mRNA.							93	98	96					11																	108382300		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382300C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3934G>A	11.37:g.108382300C>T	ENSP00000265843:p.Glu1312Lys					EXPH5_uc010rvz.2_Missense_Mutation_p.E1156K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1124K	p.E1312K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	5	4045	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1312					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3934G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186541	0.38609	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04317	4.25;4.18;4.03;4.25;4.09;3.65	5.45	-0.0916	0.13660	.	0.649006	0.15037	N	0.284070	T	0.02848	0.0085	N	0.17674	0.51	0.09310	N	1	B	0.17268	0.021	B	0.21917	0.037	T	0.48422	-0.9037	10	0.14656	T	0.56	-6.1437	6.1667	0.20394	0.0:0.3145:0.4088:0.2767	.	1312	Q8NEV8	EXPH5_HUMAN	K	1312;1236;1124;1305;1236;1124	ENSP00000265843:E1312K;ENSP00000391966:E1236K;ENSP00000411390:E1124K;ENSP00000432546:E1305K;ENSP00000432683:E1236K;ENSP00000446434:E1124K	ENSP00000265843:E1312K	E	-	1	0	EXPH5	107887510	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.270000	0.18607	0.103000	0.17682	0.591000	0.81541	GAA		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108382300	C	T	108382300	3	4	14	1	0	0	0	0	1	0	0	0	5322	835	29	3	2039	3	EXPH5	11	108382300	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	23007058	108382300	26624216	29	999											
C12orf11	55726	broad.mit.edu	37	chr12	27059333	27059333	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggaattggcagtattGattctattactccacaagga	11	15	8	7	0	2	1	0	1	2	0	3	3	3	3	1	3	1	2	1	3	5	7			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:27059333G>T	ENST00000261191.7	-	16	2519	c.1983C>A	c.(1981-1983)atC>atA	p.I661I	ASUN_ENST00000539625.1_Silent_p.I560I	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	661					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGCAGTATTGATTCTATTAC	0.323																																						uc001rhk.4																			0											c.(1981-1983)atC>atA		Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.							101	107	105					12																	27059333		2203	4299	6502	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27059333G>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1983C>A	12.37:g.27059333G>T						ASUN_uc001rhj.4_Silent_p.I229I|ASUN_uc010sjk.2_Silent_p.I560I	p.I661I	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			15	2520	-			661					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.1983C>A	CCDS8708.1																																																																																				0.323	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		T	27059333	G	T	27059333	2	4	14	1	0	0	0	0	0	0	0	1	1675	1280	45	5		5	C12orf11	12	27059333	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08		27059333	106792562	30	1000											
LRRK2	120892	broad.mit.edu	37	chr12	40668431	40668431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggattaaaagtaatttCttctattgtacattttcctg	11	19	6	5	0	2	0	0	0	2	0	3	1	3	1	1	1	1	2	1	1	5	9			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:40668431C>G	ENST00000298910.7	+	15	1761	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S568C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	568					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGTAATTTCTTCTATTGTA	0.358																																						uc001rmg.4																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1702-1704)tCt>tGt		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.							146	147	147					12																	40668431		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40668431C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1703C>G	12.37:g.40668431C>G	ENSP00000298910:p.Ser568Cys					LRRK2_uc001rmh.1_Missense_Mutation_p.S190C	p.S568C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			14	1824	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	568					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1703C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005969	0.35415	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.67171	-0.25;1.3;1.3	6.07	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.295585	0.38959	N	0.001506	T	0.62183	0.2407	L	0.43152	1.355	0.23640	N	0.997222	D;D	0.56746	0.964;0.977	P;P	0.47206	0.541;0.503	T	0.61357	-0.7079	10	0.62326	D	0.03	.	10.3076	0.43689	0.0:0.6835:0.2483:0.0683	.	568;568	E9PC85;Q5S007	.;LRRK2_HUMAN	C	316;568;568	ENSP00000398726:S316C;ENSP00000341930:S568C;ENSP00000298910:S568C	ENSP00000298910:S568C	S	+	2	0	LRRK2	38954698	1.000000	0.71417	0.301000	0.25044	0.156000	0.22039	2.180000	0.42537	2.885000	0.99019	0.655000	0.94253	TCT		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40668431	C	G	40668431	3	3	14	1	0	0	0	0	1	0	0	0	9033	913	32	5	1761	5	LRRK2	12	40668431	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	13609098	40668431	93183464	31	1001											
ANKRD52	283373	broad.mit.edu	37	chr12	56638930	56638930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttccttccaggtacgAaaacgggctgtgttcaagta	9	11	13	8	2	1	0	1	0	0	0	3	1	3	0	2	4	2	5	2	4	5	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56638930A>G	ENST00000267116.7	-	22	2570	c.2449T>C	c.(2449-2451)Tcg>Ccg	p.S817P	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	817										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCAGGTACGAAAACGGGCTG	0.522																																						uc001skm.4																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2449-2451)Tcg>Ccg		Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.							184	166	172					12																	56638930		2009	4188	6197	SO:0001583	missense	283373						protein binding	g.chr12:56638930A>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2449T>C	12.37:g.56638930A>G	ENSP00000267116:p.Ser817Pro						p.S817P	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			21	2539	-			817					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2449T>C	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.955127	0.34471	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16073	2.37	4.12	2.96	0.34315	Ankyrin repeat-containing domain (3);	0.639579	0.15299	N	0.269715	T	0.06096	0.0158	N	0.01742	-0.745	0.33282	D	0.56237	B	0.14012	0.009	B	0.19946	0.027	T	0.11470	-1.0586	10	0.42905	T	0.14	.	5.0399	0.14454	0.5887:0.3103:0.1009:0.0	.	817	Q8NB46	ANR52_HUMAN	P	817	ENSP00000267116:S817P	ENSP00000267116:S817P	S	-	1	0	ANKRD52	54925197	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.329000	0.43876	0.754000	0.32968	0.379000	0.24179	TCG		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		G	56638930	A	G	56638930	3	3	14	1	0	0	0	0	1	0	0	0	678	246	9	4	809	4	ANKRD52	12	56638930	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08	15970499	56638930	77212965	32	1002											
ANKRD52	283373	broad.mit.edu	37	chr12	56639372	56639372	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcagtcctcacagccAgtcactgcctgtgagtaaca	10	7	10	14	0	2	1	2	1	0	0	3	1	3	1	4	1	3	2	4	1	1	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56639372A>C	ENST00000267116.7	-	21	2314	c.2193T>G	c.(2191-2193)acT>acG	p.T731T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	731										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCTCACAGCCAGTCACTGCCT	0.587																																						uc001skm.4																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2191-2193)acT>acG		Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.							37	40	39					12																	56639372		2077	4200	6277	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56639372A>C	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2193T>G	12.37:g.56639372A>C							p.T731T	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			20	2283	-			731					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.2193T>G	CCDS44920.1																																																																																				0.587	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		C	56639372	A	C	56639372	2	2	14	1	0	0	0	0	0	0	0	1	678	175	7	5		5	ANKRD52	12	56639372	Silent	SNP	A	TCGA-06-0129-01A-01D-1490-08	442	56639372	77212523	33	1003											
IL22	50616	broad.mit.edu	37	chr12	68647046	68647046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattgagatgtatacctcCttagccagcatgaaggtgcg	11	10	12	8	1	0	2	0	2	0	1	1	4	1	3	3	2	4	2	3	2	4	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:68647046C>G	ENST00000538666.1	-	2	253	c.183G>C	c.(181-183)aaG>aaC	p.K61N	IL22_ENST00000328087.4_Missense_Mutation_p.K61N			Q9GZX6	IL22_HUMAN	interleukin 22	61					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGTATACCTCCTTAGCCAGCA	0.483																																						uc001sty.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(181-183)aaG>aaC		Homo sapiens interleukin 22 (IL22), mRNA.							82	71	75					12																	68647046		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68647046C>G	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"Interleukins and interleukin receptors"	14900	protein-coding gene	gene with protein product	"IL-10-related T-cell-derived inducible factor"	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.183G>C	12.37:g.68647046C>G	ENSP00000442424:p.Lys61Asn					IL22_uc010stb.1_Missense_Mutation_p.K61N	p.K61N	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	0	236	-		Myeloproliferative disorder(1001;0.0255)	61						Missense_Mutation	SNP	ENST00000538666.1	37	c.183G>C	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187987	0.38609	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.53206	0.63;0.63	5.31	-2.69	0.06022	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.111450	0.06618	N	0.756874	T	0.26521	0.0648	N	0.22421	0.69	0.21499	N	0.999663	P	0.42010	0.768	B	0.38225	0.268	T	0.11690	-1.0577	9	.	.	.	-0.1995	2.0086	0.03482	0.1138:0.2734:0.3344:0.2783	.	61	Q9GZX6	IL22_HUMAN	N	61	ENSP00000442424:K61N;ENSP00000329384:K61N	.	K	-	3	2	IL22	66933313	0.002000	0.14202	0.019000	0.16419	0.913000	0.54294	-0.620000	0.05565	-0.623000	0.05618	0.561000	0.74099	AAG		0.483	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		G	68647046	C	G	68647046	3	3	14	1	0	0	0	0	1	0	0	0	7672	680	24	5	376	5	IL22	12	68647046	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	12007674	68647046	65204849	34	1004											
RPLP0	6175	broad.mit.edu	37	chr12	120636422	120636422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggttgtagatgctgcCattgtcgaacacctgctgga	8	12	12	9	1	1	1	1	0	0	1	2	3	1	2	2	2	4	4	2	2	2	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:120636422C>T	ENST00000551150.1	-	5	901	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	RPLP0_ENST00000228306.4_Missense_Mutation_p.G196S|RPLP0_ENST00000550296.1_5'Flank|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000546989.1_Missense_Mutation_p.G160S|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.G196S|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000538804.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0	196					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATGCTGCCATTGTCGAAC	0.532																																						uc001txp.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(586-588)Ggc>Agc		Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.							88	81	83					12																	120636422		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636422C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.586G>A	12.37:g.120636422C>T	ENSP00000449328:p.Gly196Ser					RPLP0_uc001txr.3_Intron|RPLP0_uc001txq.3_Missense_Mutation_p.G196S|RPLP0_uc021ret.1_Non-coding_Transcript|LOC100506649_uc021reu.1_5'Flank	p.G196S	NM_053275	NP_444505	P05388	RLA0_HUMAN			5	823	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		196					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.586G>A	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866769	0.91511	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856	.	.	.	5.51	4.62	0.57501	.	0.060167	0.64402	N	0.000003	T	0.75199	0.3817	M	0.80028	2.48	0.80722	D	1	B	0.33345	0.409	B	0.43331	0.416	T	0.78046	-0.2357	9	0.87932	D	0	.	14.2283	0.65875	0.0:0.9281:0.0:0.0719	.	196	P05388	RLA0_HUMAN	S	196;196;160;196;147;176;196	.	ENSP00000339027:G196S	G	-	1	0	RPLP0	119120805	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.008000	0.70739	1.330000	0.45394	0.655000	0.94253	GGC		0.532	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		T	120636422	C	T	120636422	3	4	14	1	0	0	0	0	1	0	0	0	13604	594	21	3	379	3	RPLP0	12	120636422	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	51989376	120636422	13215473	35	1005											
HIP1R	9026	broad.mit.edu	37	chr12	123346052	123346052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgtggcccccagacaGgaccaccaggtgccgtctgc	7	4	12	18	2	1	1	0	0	1	1	1	2	1	2	6	3	3	0	6	3	0	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:123346052G>A	ENST00000253083.4	+	31	3275	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	1050					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCCAGACAGGACCACCAGG	0.677																																						uc001udj.1																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(3148-3150)caG>caA		Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.							16	19	18					12																	123346052		2194	4292	6486	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123346052G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.3150G>A	12.37:g.123346052G>A						HIP1R_uc001udk.1_Silent_p.Q315Q	p.Q1050Q	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	30	3209	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1050					A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.3150G>A	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	4.836	0.155440	0.09236	.	.	ENSG00000130787	ENST00000535012	.	.	.	5.06	1.98	0.26296	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46965	-0.9153	4	.	.	.	-11.2519	6.4187	0.21732	0.2374:0.139:0.6236:0.0	.	.	.	.	K	179	.	.	R	+	2	0	HIP1R	121912005	0.947000	0.32204	0.986000	0.45419	0.466000	0.32739	0.277000	0.18734	1.088000	0.41272	0.462000	0.41574	AGG		0.677	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		A	123346052	G	A	123346052	2	1	14	1	0	0	0	0	0	0	0	1	7115	991	35	3		3	HIP1R	12	123346052	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	2709630	123346052	10505843	36	1006											
NALCN	259232	broad.mit.edu	37	chr13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatgatggcacagatgCgcagcaaagagtgaacccac	13	5	12	11	2	0	5	0	3	0	2	0	5	0	5	1	1	3	4	1	1	2	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr13:102047697C>T	ENST00000251127.6	-	3	209	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NALCN_ENST00000376200.5_Missense_Mutation_p.R43H|NALCN_ENST00000376196.3_Missense_Mutation_p.R43H|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	43					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(127-129)cGc>cAc		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							123	100	108					13																	102047697		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047697C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.128G>A	13.37:g.102047697C>T	ENSP00000251127:p.Arg43His					NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			2	317	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		43					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.128G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179813	0.94846	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.97404	-4.37;-4.37;-4.37	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.964;0.971	D	0.98748	1.0719	10	0.62326	D	0.03	.	19.7619	0.96323	0.0:1.0:0.0:0.0	.	43;43	F2Z323;Q8IZF0	.;NALCN_HUMAN	H	43	ENSP00000251127:R43H;ENSP00000365367:R43H;ENSP00000365373:R43H	ENSP00000251127:R43H	R	-	2	0	NALCN	100845698	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.681000	0.91329	0.561000	0.74099	CGC		0.433	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	102047697	C	T	102047697	3	4	14	1	0	0	0	0	1	0	0	0	10148	768	27	1	5256	1	NALCN	13	102047697	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		102047697	13122181	37	1007											
OR4N2	390429	broad.mit.edu	37	chr14	20295961	20295961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattactccttgttgtgatGgcctttgaccgctacatcgc	6	14	10	11	2	0	2	0	2	0	0	2	3	1	3	3	2	2	2	3	2	2	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:20295961G>A	ENST00000315947.1	+	1	354	c.354G>A	c.(352-354)atG>atA	p.M118I	OR4N2_ENST00000568211.1_Missense_Mutation_p.M118I	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTGTGATGGCCTTTGACC	0.517																																						uc010tkv.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(352-354)atG>atA		Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.							142	152	149					14																	20295961		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295961G>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.354G>A	14.37:g.20295961G>A	ENSP00000319601:p.Met118Ile						p.M118I	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	354	+	all_cancers(95;0.00108)		118					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.354G>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.379365	0.82682	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.01126	5.3;5.3	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.10895	0.0266	H	0.94964	3.605	0.40838	D	0.983645	D	0.89917	1.0	D	0.87578	0.998	T	0.01118	-1.1446	10	0.87932	D	0	-25.7282	15.1112	0.72359	0.0:0.0:1.0:0.0	.	118	Q8NGD1	OR4N2_HUMAN	I	118	ENSP00000452022:M118I;ENSP00000319601:M118I	ENSP00000319601:M118I	M	+	3	0	OR4N2	19365801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.958000	0.93099	2.488000	0.83962	0.591000	0.81541	ATG		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20295961	G	A	20295961	3	1	14	1	0	0	0	0	1	0	0	0	11077	1348	47	3	356	3	OR4N2	14	20295961	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		20295961	87053579	38	1008											
MIA2	117153	broad.mit.edu	37	chr14	39703346	39703348	+	In_Frame_Del	DEL	CTT	CTT	-																															aatttggcgttcacagaatcCttcttctggctatttctctg																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:39703346_39703348delCTT	ENST00000280082.3	+	1	227_229	c.28_30delCTT	c.(28-30)cttdel	p.L12del	MIA2_ENST00000556784.1_In_Frame_Del_p.L12del|RP11-407N17.3_ENST00000553728.1_In_Frame_Del_p.L12del	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	12					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCACAGAATCCTTCTTCTGGCTA	0.424																																						uc001wux.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31						c.(28-30)cttdel		Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.																																				SO:0001651	inframe_deletion	117153					extracellular region		g.chr14:39703346_39703348delCTT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.28_30delCTT	14.37:g.39703349_39703351delCTT	ENSP00000280082:p.Leu12del					MIA2_uc010amy.2_5'UTR	p.L12del	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	0	222_224	+	Hepatocellular(127;0.213)		12					A1L4H0|Q9H6C1	In_Frame_Del	DEL	ENST00000280082.3	37	c.28_30delCTT	CCDS9672.1																																																																																				0.424	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		-	39703348	CTT	-	39703346	7	5	14	1	0	1	0	1	0	0	0	0	9564	681	24	0	30	0	MIA2	14	39703346	In_Frame_Del	DEL	CTT	TCGA-06-0129-01A-01D-1490-08	19407385	39703346	67646194	39	1009											
DHX38	9785	broad.mit.edu	37	chr16	72130894	72130894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggatcgagactatgaccGcaagagggacagaggtaaac	14	4	15	8	3	0	4	0	1	0	3	1	7	0	6	1	3	1	2	1	3	4	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr16:72130894G>A	ENST00000268482.3	+	3	1006	c.497G>A	c.(496-498)cGc>cAc	p.R166H	DHX38_ENST00000536867.1_Intron|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	166					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GACTATGACCGCAAGAGGGAC	0.488																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(496-498)cGc>cAc		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.							83	78	79					16																	72130894		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130894G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.497G>A	16.37:g.72130894G>A	ENSP00000268482:p.Arg166His					TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	p.R166H	NM_014003	NP_054722	Q92620	PRP16_HUMAN			2	852	+		Ovarian(137;0.125)	166					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.497G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592012	0.66219	.	.	ENSG00000140829	ENST00000268482	T	0.03468	3.92	5.12	5.12	0.69794	.	0.063428	0.64402	D	0.000006	T	0.17704	0.0425	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.00110	-1.2047	10	0.56958	D	0.05	.	17.1037	0.86656	0.0:0.0:1.0:0.0	.	166	Q92620	PRP16_HUMAN	H	166	ENSP00000268482:R166H	ENSP00000268482:R166H	R	+	2	0	DHX38	70688395	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.517000	0.73759	2.529000	0.85273	0.561000	0.74099	CGC		0.488	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72130894	G	A	72130894	3	1	14	1	0	0	0	0	1	0	0	0	4511	1087	38	1	503	1	DHX38	16	72130894	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		72130894	18223859	40	1010											
OR3A1	4994	broad.mit.edu	37	chr17	3195464	3195464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactgtctgactcatgCgggtgctgtaggtgaggggc	5	11	17	8	1	3	2	1	2	2	0	3	3	3	3	0	5	2	2	0	5	1	1	rs143631940		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:3195464C>T	ENST00000323404.1	-	1	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582													.|||	1	0.000199681	0	0	5008	,	,		21033	0.001		0	False		,,,				2504	0				GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(412-414)cGc>cAc		Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116	111	113		413	0.9	0.9	17	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR3A1	NM_002550.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	138/316	3195464	2,13004	2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195464C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.413G>A	17.37:g.3195464C>T	ENSP00000313803:p.Arg138His						p.R138H	NM_002550	NP_002541	P47881	OR3A1_HUMAN			0	413	-			138					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.413G>A	CCDS11023.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.393	0.840240	0.16891	2.27E-4	1.16E-4	ENSG00000180090	ENST00000323404	T	0.00397	7.57	5.31	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.36962	-0.9726	10	0.30854	T	0.27	-13.4225	3.982	0.09499	0.2805:0.4667:0.0:0.2528	.	138	P47881	OR3A1_HUMAN	H	138	ENSP00000313803:R138H	ENSP00000313803:R138H	R	-	2	0	OR3A1	3142214	0.000000	0.05858	0.923000	0.36655	0.826000	0.46750	-0.014000	0.12656	0.785000	0.33685	0.650000	0.86243	CGC		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			T	3195464	C	T	3195464	3	4	14	1	0	0	0	0	1	0	0	0	11037	768	27	1	538	1	OR3A1	17	3195464	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		3195464	77999746	41	1011											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	14	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	4382074	7577538	73617672	42	1012											
CALR3	125972	broad.mit.edu	37	chr19	16593572	16593572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcttgctggtgctggCgtccagaaaatgcttctccc	5	12	11	13	1	2	1	0	0	2	1	4	1	3	1	2	2	4	5	2	2	2	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:16593572C>T	ENST00000269881.3	-	6	765	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	235	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGGTGCTGGCGTCCAGAAAA	0.498																																						uc002ned.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						c.(703-705)Gcc>Acc		Homo sapiens calreticulin 3 (CALR3), mRNA.							45	41	43					19																	16593572		2203	4300	6503	SO:0001583	missense	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16593572C>T	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"cancer/testis antigen 93", "calsperin"	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.703G>A	19.37:g.16593572C>T	ENSP00000269881:p.Ala235Thr					MED26_uc002nee.2_Non-coding_Transcript	p.A235T	NM_145046	NP_659483	Q96L12	CALR3_HUMAN			5	766	-			235			4 X approximate repeats.|P-domain.		D9N574|Q96LN3	Missense_Mutation	SNP	ENST00000269881.3	37	c.703G>A	CCDS12344.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919519	0.33908	.	.	ENSG00000141979	ENST00000269881;ENST00000409035	T	0.49139	0.79	5.07	2.95	0.34219	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.204155	0.46758	D	0.000269	T	0.28400	0.0702	N	0.20881	0.62	0.28218	N	0.926643	B	0.18863	0.031	B	0.14578	0.011	T	0.14254	-1.0479	10	0.56958	D	0.05	-24.4327	4.0603	0.09836	0.0:0.5621:0.1821:0.2557	.	235	Q96L12	CALR3_HUMAN	T	235;32	ENSP00000269881:A235T	ENSP00000269881:A235T	A	-	1	0	CALR3	16454572	1.000000	0.71417	0.680000	0.29994	0.478000	0.33099	2.813000	0.48002	1.146000	0.42352	-0.244000	0.11960	GCC		0.498	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		T	16593572	C	T	16593572	3	4	14	1	0	0	0	0	1	0	0	0	2593	768	27	1	467	1	CALR3	19	16593572	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		16593572	42535411	43	1013											
ZNF790	388536	broad.mit.edu	37	chr19	37310870	37310870	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttgaagtgtttgaaactGagtgttgccttcccagtcac	9	14	9	9	0	2	3	1	3	1	0	3	3	3	3	2	0	2	2	2	0	2	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:37310870G>A	ENST00000356725.4	-	5	496	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTGAAACTGAGTGTTGCCT	0.383																																						uc021utk.1																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(376-378)Cag>Tag		Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.							131	127	128					19																	37310870		2203	4300	6503	SO:0001587	stop_gained	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310870G>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.376C>T	19.37:g.37310870G>A	ENSP00000349161:p.Gln126*					LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Nonsense_Mutation_p.Q126*|ZNF790_uc021utl.1_Nonsense_Mutation_p.Q126*|ZNF790_uc021utm.1_Nonsense_Mutation_p.Q126*	p.Q126*	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		4	805	-	Esophageal squamous(110;0.183)		126						Nonsense_Mutation	SNP	ENST00000356725.4	37	c.376C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716468	0.48622	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	.	.	.	3.08	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.3049	0.32036	0.0:0.2453:0.7547:0.0	.	.	.	.	X	126	.	ENSP00000349161:Q126X	Q	-	1	0	ZNF790	42002710	0.249000	0.23941	0.002000	0.10522	0.003000	0.03518	2.131000	0.42074	1.708000	0.51301	0.484000	0.47621	CAG		0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		A	37310870	G	A	37310870	4	1	14	1	0	0	0	0	0	1	0	0	18159	1299	45	3	1538	3	ZNF790	19	37310870	Nonsense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	20717298	37310870	21818113	44	1014											
SIGLEC6	946	broad.mit.edu	37	chr19	52033694	52033694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggctggttcctacctgCgctgtttccttggaagatgc	5	13	12	11	1	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	2	4	rs201148057		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:52033694C>T	ENST00000425629.3	-	4	905	c.751G>A	c.(751-753)Gca>Aca	p.A251T	SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.A240T|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.A251T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.A262T|SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	251	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.A251T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTCCTACCTGCGCTGTTTCCT	0.562																																						uc002pwy.3																			1	Substitution - Missense(1)	p.A251T(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(751-753)Gca>Aca		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.		C	,THR/ALA,THR/ALA,THR/ALA,,THR/ALA	0,3996		0,0,1998	57	58	58		,784,718,751,,751	0.7	0.2	19		58	4,8364		0,4,4180	yes	intron,missense,missense,missense,intron,missense	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	,58,58,58,,58	0,4,6178	TT,TC,CC		0.0478,0.0,0.0324	,benign,benign,benign,,benign	,262/390,240/343,251/454,,251/354	52033694	4,12360	1998	4184	6182	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033694C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.751G>A	19.37:g.52033694C>T	ENSP00000401502:p.Ala251Thr					SIGLEC6_uc002pwz.3_Intron|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.A262T|SIGLEC6_uc002pxa.3_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epa.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epb.2_Missense_Mutation_p.A204T	p.A251T	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	959	-		all_neural(266;0.0199)	251			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.751G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.443382	0.01089	0.0	4.78E-4	ENSG00000105492	ENST00000425629;ENST00000359982;ENST00000343300	T;T;T	0.46819	1.3;1.51;0.86	3.03	0.731	0.18277	Immunoglobulin-like (1);	1.520390	0.04750	N	0.424326	T	0.10121	0.0248	N	0.00098	-2.145	0.24851	N	0.992402	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40346	-0.9568	10	0.02654	T	1	.	2.4475	0.04509	0.236:0.1404:0.0:0.6236	.	262;240;251;251	F8WA78;O43699-4;O43699-2;O43699	.;.;.;SIGL6_HUMAN	T	251;262;251	ENSP00000401502:A251T;ENSP00000353071:A262T;ENSP00000345907:A251T	ENSP00000345907:A251T	A	-	1	0	SIGLEC6	56725506	0.175000	0.23083	0.226000	0.23910	0.007000	0.05969	0.052000	0.14163	-0.009000	0.14296	-1.772000	0.00662	GCA		0.562	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		T	52033694	C	T	52033694	3	4	14	1	0	0	0	0	1	0	0	0	14312	768	27	1	630	1	SIGLEC6	19	52033694	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	14722824	52033694	7095289	45	1015											
DEFB125	245938	broad.mit.edu	37	chr20	77035	77035	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactatgccaccaccttctCagacagctcttactcataat	12	11	4	14	0	3	2	2	0	2	2	4	2	3	2	3	0	3	1	3	0	3	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:77035C>T	ENST00000382410.2	+	2	448	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	150					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCACCTTCTCAGACAGCTCT	0.428																																						uc002wcw.3																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(448-450)Cag>Tag		Homo sapiens defensin, beta 125 (DEFB125), mRNA.							192	184	186					20																	77035		2203	4300	6503	SO:0001587	stop_gained	245938				defense response to bacterium	extracellular region		g.chr20:77035C>T	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.448C>T	20.37:g.77035C>T	ENSP00000371847:p.Gln150*						p.Q150*	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		1	448	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	150					A1A502|Q7Z7B9	Nonsense_Mutation	SNP	ENST00000382410.2	37	c.448C>T	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	4.946	0.175695	0.09391	.	.	ENSG00000178591	ENST00000382410	.	.	.	3.01	-3.54	0.04653	.	.	.	.	.	.	.	.	.	.	.	0.21527	N	0.99966	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.0755	0.06245	0.1399:0.3678:0.3714:0.121	.	.	.	.	X	150	.	ENSP00000371847:Q150X	Q	+	1	0	DEFB125	25035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.541000	0.06099	-0.753000	0.04721	-1.114000	0.02060	CAG		0.428	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		T	77035	C	T	77035	4	4	14	1	0	0	0	0	0	1	0	0	4411	827	29	3	454	3	DEFB125	20	77035	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		77035	62948485	46	1016											
ZNF343	79175	broad.mit.edu	37	chr20	2464182	2464182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaggagtgatttccgActaaagcctcggccacactc	12	7	10	12	2	0	1	0	1	0	0	3	4	1	3	3	3	1	0	3	3	3	2	rs528685225	byFrequency	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S475S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527													A|||	5	0.000998403	0.003	0	5008	,	,		22125	0		0	False		,,,				2504	0.001					uc002wge.1																			2	Substitution - coding silent(2)	p.S475S(4)	lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1423-1425)agT>agC		Homo sapiens zinc finger protein 343 (ZNF343), mRNA.							113	95	101					20																	2464182		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464182A>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1425T>C	20.37:g.2464182A>G						ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	p.S475S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			5	1913	-			475					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1425T>C	CCDS13028.1																																																																																				0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		G	2464182	A	G	2464182	2	3	14	1	0	0	0	0	0	0	0	1	17855	272	10	4		4	ZNF343	20	2464182	Silent	SNP	A	TCGA-06-0129-01A-01D-1490-08	2387147	2464182	60561338	47	1017											
CEP250	11190	broad.mit.edu	37	chr20	34084435	34084436	+	Frame_Shift_Del	DEL	AG	AG	-																															gtcactgatggaaaaggaacAgagactccttgttttacaag																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:34084435_34084436delAG	ENST00000397527.1	+	25	3917_3918	c.3197_3198delAG	c.(3196-3198)cagfs	p.Q1066fs	CEP250_ENST00000342580.4_Frame_Shift_Del_p.Q1010fs	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1066	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAAGGAACAGAGACTCCTTG	0.48																																						uc021wco.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3196-3198)cagfs		Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.																																				SO:0001589	frameshift_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34084435_34084436delAG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3197_3198delAG	20.37:g.34084437_34084438delAG	ENSP00000380661:p.Gln1066fs					CEP250_uc010zve.2_Frame_Shift_Del_p.Q434fs	p.Q1066fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		24	3844_3845	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1066			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Frame_Shift_Del	DEL	ENST00000397527.1	37	c.3197_3198delAG	CCDS13255.1																																																																																				0.48	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		-	34084436	AG	-	34084435	7	5	14	1	0	1	0	1	0	0	0	0	3252	188	7	0	3283	0	CEP250	20	34084435	Frame_Shift_Del	DEL	AG	TCGA-06-0129-01A-01D-1490-08	31620253	34084435	28941085	48	1018											
HMOX1	3162	broad.mit.edu	37	chr22	35783113	35783113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccctggagatgactcccGcagtcaggcagagggtgata	10	7	13	11	1	1	4	1	2	0	2	3	5	3	4	2	3	0	2	2	3	1	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:35783113G>A	ENST00000216117.8	+	3	919	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	194					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GATGACTCCCGCAGTCAGGCA	0.622																																						uc003ant.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(580-582)Gca>Aca		Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	NADH(DB00157)						56	52	53					22																	35783113		2200	4298	6498	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35783113G>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.580G>A	22.37:g.35783113G>A	ENSP00000216117:p.Ala194Thr						p.A194T	NM_002133	NP_002124	P09601	HMOX1_HUMAN			2	687	+			194						Missense_Mutation	SNP	ENST00000216117.8	37	c.580G>A	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691537	0.15039	.	.	ENSG00000100292	ENST00000216117	T	0.23147	1.92	5.71	-0.0527	0.13821	Haem oxygenase-like, multi-helical (2);	0.632705	0.17084	N	0.187659	T	0.17959	0.0431	L	0.54323	1.7	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.18335	-1.0340	10	0.33141	T	0.24	-3.6162	2.5472	0.04740	0.256:0.1145:0.5113:0.1182	.	194	P09601	HMOX1_HUMAN	T	194	ENSP00000216117:A194T	ENSP00000216117:A194T	A	+	1	0	HMOX1	34113113	0.912000	0.30974	0.000000	0.03702	0.003000	0.03518	1.881000	0.39638	-0.118000	0.11851	-0.122000	0.15005	GCA		0.622	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			A	35783113	G	A	35783113	3	1	14	1	0	0	0	0	1	0	0	0	7243	1087	38	1	590	1	HMOX1	22	35783113	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		35783113	15521453	49	1019											
MYH9	4627	broad.mit.edu	37	chr22	36745230	36745232	+	In_Frame_Del	DEL	TGA	TGA	-																															ggcctgggccagcggattgtTgatgaagtttttatccacat																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:36745230_36745232delTGA	ENST00000216181.5	-	2	280_282	c.50_52delTCA	c.(49-54)atcaac>aac	p.I17del	MYH9_ENST00000401701.1_In_Frame_Del_p.I17del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	17					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCGGATTGTTGATGAAGTTTTT	0.542			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(49-54)atcaac>aac		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36745230_36745232delTGA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.50_52delTCA	22.37:g.36745233_36745235delTGA	ENSP00000216181:p.Ile17del					MYH9_uc003api.1_In_Frame_Del_p.I17del	p.I17del	NM_002473	NP_002464	P35579	MYH9_HUMAN			1	281_283	-			17			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.50_52delTCA	CCDS13927.1																																																																																				0.542	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		-	36745232	TGA	-	36745230	7	5	14	1	0	1	0	1	0	0	0	0	10042	1812	63	0	5990	0	MYH9	22	36745230	In_Frame_Del	DEL	TGA	TCGA-06-0129-01A-01D-1490-08	962117	36745230	14559336	50	1020											
P2RY8	286530	broad.mit.edu	37	chrX	1584564	1584564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctggaattcccgggaCgcaaagtaataaacaaacgg	15	5	11	10	4	0	0	0	0	0	0	1	2	1	2	1	3	3	4	1	3	6	3			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:1584564C>T	ENST00000381297.4	-	2	1098	c.888G>A	c.(886-888)gcG>gcA	p.A296A	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTCCCGGGACGCAAAGTAAT	0.602			T	CRLF2	"B-ALL, Downs associated ALL"																																	uc022brv.1				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(886-888)gcG>gcA		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							100	101	101					X																	1584564		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584564C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.888G>A	X.37:g.1584564C>T						CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.A296A	p.A296A	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	888	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	296						Silent	SNP	ENST00000381297.4	37	c.888G>A	CCDS14115.1																																																																																				0.602	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		T	1584564	C	T	1584564	2	4	14	1	0	0	0	0	0	0	0	1	11355	523	19	1		1	P2RY8	23	1584564	Silent	SNP	C	TCGA-06-0129-01A-01D-1490-08		1584564	153685996	51	1021											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gccttctgctgaagagaaagTctctctctcttgttttcttt																								rs141180098		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E886fs*18(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Unknown(1)|Deletion - Frameshift(1)	p.E886fs*18(2)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2656-2661)gagactfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938089_76938092delTCTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2656_2659delGAGA	X.37:g.76938093_76938096delTCTC	ENSP00000362441:p.Glu886fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	p.E886fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	2888_2891	-			886					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2656_2659delGAGA	CCDS14434.1																																																																																				0.412	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76938092	TCTC	-	76938089	7	5	14	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-06-0129-01A-01D-1490-08	75353525	76938089	78332471	52	1022											
CLCN6	1185	broad.mit.edu	37	chr1	11897130	11897130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcctacccatccagcgaGctacggaacatgtgtgatga	12	8	10	11	2	0	2	0	2	0	0	2	4	2	3	3	1	5	1	3	1	4	2	rs137976806		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:11897130G>C	ENST00000346436.6	+	19	2107	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	CLCN6_ENST00000376496.3_Missense_Mutation_p.E685D|CLCN6_ENST00000376487.3_Missense_Mutation_p.E663D|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	685					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGCGAGCTACGGAACA	0.622																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2053-2055)gaG>gaC		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.							72	67	69					1																	11897130		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897130G>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2055G>C	1.37:g.11897130G>C	ENSP00000234488:p.Glu685Asp					CLCN6_uc010oat.2_Missense_Mutation_p.E401D|CLCN6_uc010oau.2_Missense_Mutation_p.E663D	p.E685D	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	2168	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	685					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2055G>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640325	0.67244	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.92048	-2.92;-2.9;-2.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	L	0.47716	1.5	0.80722	D	1	B;P	0.52842	0.426;0.956	B;D	0.65010	0.199;0.931	D	0.90529	0.4494	10	0.13470	T	0.59	-33.5969	18.8259	0.92119	0.0:0.0:1.0:0.0	.	663;685	F8W9R3;P51797	.;CLCN6_HUMAN	D	685;663;685	ENSP00000234488:E685D;ENSP00000365670:E663D;ENSP00000365679:E685D	ENSP00000234488:E685D	E	+	3	2	CLCN6	11819717	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.487000	0.53222	2.711000	0.92665	0.561000	0.74099	GAG		0.622	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		C	11897130	G	C	11897130	3	2	15	1	0	0	0	0	1	0	0	0	3467	962	34	5	2139	5	CLCN6	1	11897130	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		11897130	237353491	1	1023											
CSMD2	114784	broad.mit.edu	37	chr1	34035009	34035009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagccactccagagcccaTtggccatgcactcacgcacc	10	5	8	18	1	1	2	1	0	0	2	2	2	2	2	5	1	3	2	5	1	0	1	rs143469891	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:34035009T>C	ENST00000373381.4	-	52	8272	c.8096A>G	c.(8095-8097)aAt>aGt	p.N2699S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2701	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGAGCCCATTGGCCATGCA	0.547													T|||	3	0.000599042	0.0015	0	5008	,	,		18242	0		0	False		,,,				2504	0.001					uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(8095-8097)aAt>aGt		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.		T	SER/ASN	14,4392	21.2+/-45.6	0,14,2189	95	83	87		8102	5.5	1	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CSMD2	NM_052896.3	46	0,15,6488	CC,CT,TT		0.0116,0.3177,0.1153	probably-damaging	2701/3488	34035009	15,12991	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34035009T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8096A>G	1.37:g.34035009T>C	ENSP00000362479:p.Asn2699Ser					CSMD2_uc001bxn.1_Missense_Mutation_p.N2701S	p.N2699S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			51	8273	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2701			Sushi 17.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8096A>G		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.61	1.991086	0.35131	0.003177	1.16E-4	ENSG00000121904	ENST00000373381	T	0.66638	-0.22	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	N	0.20445	0.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.72187	-0.4366	10	0.42905	T	0.14	.	14.7352	0.69412	0.0:0.0:0.0:1.0	.	2701;2699	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	2699	ENSP00000362479:N2699S	ENSP00000241312:N2701S	N	-	2	0	CSMD2	33807596	1.000000	0.71417	0.996000	0.52242	0.378000	0.30076	6.289000	0.72696	2.075000	0.62263	0.533000	0.62120	AAT		0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		C	34035009	T	C	34035009	3	2	15	1	0	0	0	0	1	0	0	0	3945	1493	52	4	2429	4	CSMD2	1	34035009	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	22137879	34035009	215215612	2	1024											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948728	37948728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggattgcctggactcggGcattggctccctggagagcc	6	8	14	13	1	0	1	0	0	0	1	2	4	1	3	4	5	2	2	4	5	0	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:37948728G>A	ENST00000373087.6	+	6	1432	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGACTCGGGCATTGGCTCC	0.662																																						uc001cbb.4																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1315-1317)gGc>gAc		Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.							23	26	25					1																	37948728		2203	4299	6502	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948728G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1316G>A	1.37:g.37948728G>A	ENSP00000362179:p.Gly439Asp					ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	p.G439D	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			5	1466	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	439						Missense_Mutation	SNP	ENST00000373087.6	37	c.1316G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363965	0.82353	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.19394	2.15	5.52	5.52	0.82312	.	0.313822	0.33199	N	0.005176	T	0.46776	0.1410	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.913	T	0.35400	-0.9790	10	0.54805	T	0.06	-33.2461	17.6306	0.88106	0.0:0.0:1.0:0.0	.	234;439	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	D	439	ENSP00000362179:G439D	ENSP00000362174:G439D	G	+	2	0	ZC3H12A	37721315	1.000000	0.71417	0.881000	0.34555	0.962000	0.63368	7.075000	0.76798	2.579000	0.87056	0.561000	0.74099	GGC		0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		A	37948728	G	A	37948728	3	1	15	1	0	0	0	0	1	0	0	0	17558	1203	42	3	1334	3	ZC3H12A	1	37948728	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	3913719	37948728	211301893	3	1025											
CACNA1E	777	broad.mit.edu	37	chr1	181700365	181700365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagccacgcagcagccaCctgtatgtgtgtaccagttt	8	10	12	11	1	0	0	0	0	0	0	0	1	0	1	4	1	4	5	4	1	2	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:181700365C>A	ENST00000367573.2	+	19	2295	c.2295C>A	c.(2293-2295)caC>caA	p.H765Q	CACNA1E_ENST00000367567.4_Missense_Mutation_p.H372Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H716Q|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H765Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	765					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCCACCTGTATGTGT	0.522																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2293-2295)caC>caA		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							173	194	187					1																	181700365		2184	4257	6441	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181700365C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2295C>A	1.37:g.181700365C>A	ENSP00000356545:p.His765Gln					CACNA1E_uc001gow.3_Missense_Mutation_p.H765Q|CACNA1E_uc009wxs.3_Intron|CACNA1E_uc001gox.1_5'Flank	p.H765Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			18	2490	+			765					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2295C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424353	0.25639	.	.	ENSG00000198216	ENST00000367570;ENST00000357570;ENST00000367567;ENST00000367573	D;D;D;D	0.95980	-3.79;-3.79;-3.87;-3.79	5.23	5.23	0.72850	.	7.143020	0.00166	N	0.000003	D	0.89629	0.6770	N	0.08118	0	0.46298	D	0.998979	B	0.06786	0.001	B	0.11329	0.006	T	0.69363	-0.5165	10	0.10902	T	0.67	.	9.2735	0.37686	0.0:0.8381:0.0:0.1619	.	765	Q15878-3	.	Q	765;716;372;765	ENSP00000356542:H765Q;ENSP00000350183:H716Q;ENSP00000356539:H372Q;ENSP00000356545:H765Q	ENSP00000350183:H716Q	H	+	3	2	CACNA1E	179966988	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.453000	0.35167	2.417000	0.82017	0.650000	0.86243	CAC		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181700365	C	A	181700365	3	1	15	1	0	0	0	0	1	0	0	0	2542	506	18	5	2369	5	CACNA1E	1	181700365	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	143751637	181700365	67550256	4	1026											
TTN	7273	broad.mit.edu	37	chr2	179458768	179458768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatttgccggaatctgaaCgtttggccttgatcttctct	7	16	9	9	2	3	2	0	2	3	0	4	3	3	3	2	2	2	2	2	2	3	5			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:179458768C>T	ENST00000591111.1	-	247	53653	c.53429G>A	c.(53428-53430)cGt>cAt	p.R17810H	TTN_ENST00000460472.2_Missense_Mutation_p.R10386H|TTN_ENST00000342992.6_Missense_Mutation_p.R16883H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10578H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10511H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19451H			Q8WZ42	TITIN_HUMAN	titin	17810	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATCTGAACGTTTGGCCTT	0.418																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50647-50649)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							184	179	181					2																	179458768		2020	4192	6212	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458768C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53429G>A	2.37:g.179458768C>T	ENSP00000465570:p.Arg17810His					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578H|TTN_uc021vta.1_Missense_Mutation_p.R10511H|TTN_uc021vtb.1_Missense_Mutation_p.R10386H	p.R16883H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50873	-			17810			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50648G>A		.	.	.	.	.	.	.	.	.	.	C	19.26	3.793335	0.70452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69931	0.3166	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70680	-0.4805	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10386;10511;10578;17810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16883;10386;10578;10511;10384	ENSP00000343764:R16883H;ENSP00000434586:R10386H;ENSP00000340554:R10578H;ENSP00000352154:R10511H	ENSP00000340554:R10578H	R	-	2	0	TTN	179167014	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179458768	C	T	179458768	3	4	15	1	0	0	0	0	1	0	0	0	16732	536	19	1	49891	1	TTN	2	179458768	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		179458768	63740605	5	1027											
SF3B1	23451	broad.mit.edu	37	chr2	198267698	198267698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaattagaaatgatctctCggccttccactctagcatag	12	11	6	12	1	2	2	0	1	2	1	5	2	3	2	3	1	1	1	3	1	5	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:198267698C>T	ENST00000335508.6	-	13	1872	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	594				R -> L (in Ref. 1; AAC97189). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATGATCTCTCGGCCTTCCAC	0.338			Mis		myelodysplastic syndrome																																	uc002uue.3				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1780-1782)cGa>cAa		Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.							63	61	62					2																	198267698		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267698C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1781G>A	2.37:g.198267698C>T	ENSP00000335321:p.Arg594Gln						p.R594Q	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		12	1829	-			594	R -> L (in Ref. 1; AAC97189).				E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1781G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804827	0.96967	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87906	0.2694	9	0.59425	D	0.04	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	594	O75533	SF3B1_HUMAN	Q	594	.	ENSP00000335321:R594Q	R	-	2	0	SF3B1	197975943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGA		0.338	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198267698	C	T	198267698	3	4	15	1	0	0	0	0	1	0	0	0	14149	884	31	2	2185	2	SF3B1	2	198267698	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	18808930	198267698	44931675	6	1028											
PLCD1	5333	broad.mit.edu	37	chr3	38052749	38052749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgagggagagggccagcGcaggccctgccgcctcctcc	7	4	14	16	2	0	2	0	1	0	1	2	3	2	2	6	3	2	1	6	3	1	0	rs372208980		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:38052749G>A	ENST00000334661.4	-	5	968	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.A270V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	249					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGGGCCAGCGCAGGCCCTGC	0.687																																						uc003chm.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(808-810)gCg>gTg		Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.							34	36	35					3																	38052749		2203	4299	6502	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38052749G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.746C>T	3.37:g.38052749G>A	ENSP00000335600:p.Ala249Val					PLCD1_uc003chn.3_Missense_Mutation_p.A249V	p.A270V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	4	1163	-			249					B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.809C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854833	0.17106	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.17854	2.25;2.25	4.95	2.92	0.33932	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.491533	0.24048	N	0.042028	T	0.09379	0.0231	L	0.31752	0.955	0.09310	N	1	B;B	0.27316	0.175;0.057	B;B	0.19946	0.027;0.022	T	0.16928	-1.0386	10	0.36615	T	0.2	.	2.6607	0.05026	0.0948:0.1438:0.3679:0.3935	.	249;270	P51178;B3KR14	PLCD1_HUMAN;.	V	270;249	ENSP00000430344:A270V;ENSP00000335600:A249V	ENSP00000335600:A249V	A	-	2	0	PLCD1	38027753	0.007000	0.16637	0.023000	0.16930	0.446000	0.32137	1.354000	0.34056	1.342000	0.45619	0.655000	0.94253	GCG		0.687	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			A	38052749	G	A	38052749	3	1	15	1	0	0	0	0	1	0	0	0	12031	1087	38	1	1568	1	PLCD1	3	38052749	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		38052749	159969681	7	1029											
CX3CR1	1524	broad.mit.edu	37	chr3	39307436	39307436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccacattgcggagcaCgggccagatttcctggagga	8	10	13	10	2	0	1	0	0	0	1	2	4	2	4	3	4	2	2	3	4	0	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:39307436C>T	ENST00000541347.1	-	2	804	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	CX3CR1_ENST00000542107.1_Missense_Mutation_p.V189M|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V189M|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V221M	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	189					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGCGGAGCACGGGCCAGATT	0.483																																						uc021wwc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(661-663)Gtg>Atg		Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.							105	105	105					3																	39307436		1901	4114	6015	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307436C>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.565G>A	3.37:g.39307436C>T	ENSP00000439140:p.Val189Met					CX3CR1_uc021wwa.1_Missense_Mutation_p.V189M|CX3CR1_uc021wwb.1_Missense_Mutation_p.V189M|CX3CR1_uc003cjl.3_Missense_Mutation_p.V189M|CX3CR1_uc021wwd.1_Missense_Mutation_p.V189M	p.V221M	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	1	701	-			189					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.661G>A	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763018	0.31228	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.62	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.666605	0.15395	N	0.264625	T	0.42562	0.1208	L	0.53729	1.69	0.20307	N	0.999915	D	0.60575	0.988	P	0.54100	0.742	T	0.16867	-1.0388	10	0.33940	T	0.23	.	8.2146	0.31503	0.1536:0.7652:0.0:0.0811	.	189	P49238	CX3C1_HUMAN	M	189;197;221;189;189	ENSP00000382166:V189M;ENSP00000351059:V221M;ENSP00000439140:V189M;ENSP00000444928:V189M	ENSP00000351059:V221M	V	-	1	0	CX3CR1	39282440	0.000000	0.05858	0.546000	0.28166	0.584000	0.36387	0.028000	0.13644	1.329000	0.45376	0.655000	0.94253	GTG		0.483	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		T	39307436	C	T	39307436	3	4	15	1	0	0	0	0	1	0	0	0	4075	536	19	1	506	1	CX3CR1	3	39307436	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	1254687	39307436	158714994	8	1030											
CLEC3B	7123	broad.mit.edu	37	chr3	45077251	45077251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctgggtggacatgacCggcgcccgcatcgcctacaa	8	5	13	15	4	0	1	0	1	0	0	1	2	0	2	4	4	1	2	4	4	2	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:45077251C>T	ENST00000296130.4	+	3	624	c.444C>T	c.(442-444)acC>acT	p.T148T	CLEC3B_ENST00000428034.1_Silent_p.T106T|CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	148	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	TGGACATGACCGGCGCCCGCA	0.667																																					GBM(139;1487 3263 30871)	uc003cok.4																			0				endometrium(1)|lung(3)	4						c.(442-444)acC>acT		Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37	38	38					3																	45077251		2203	4300	6503	SO:0001819	synonymous_variant	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077251C>T		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	11891	protein-coding gene	gene with protein product		187520	"tetranectin (plasminogen binding protein)"	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.444C>T	3.37:g.45077251C>T							p.T148T	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	540	+			148			C-type lectin.		Q6FGX6	Silent	SNP	ENST00000296130.4	37	c.444C>T	CCDS2726.1																																																																																				0.667	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		T	45077251	C	T	45077251	2	4	15	1	0	0	0	0	0	0	0	1	3511	639	23	2		2	CLEC3B	3	45077251	Silent	SNP	C	TCGA-06-0130-01A-01D-1490-08	5769815	45077251	152945179	9	1031											
ARMC8	25852	broad.mit.edu	37	chr3	137991889	137991889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacagctattccggttattAtcagattcagatttgaatgt	12	15	8	6	1	2	3	2	1	0	2	3	4	3	3	1	1	2	2	1	1	5	6			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:137991889A>G	ENST00000469044.1	+	17	1831	c.1560A>G	c.(1558-1560)ttA>ttG	p.L520L	NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Silent_p.L489L|ARMC8_ENST00000461822.1_Silent_p.L453L|ARMC8_ENST00000485396.1_Silent_p.L447L|ARMC8_ENST00000491704.1_Silent_p.L478L|ARMC8_ENST00000481646.1_Silent_p.L506L|ARMC8_ENST00000393058.3_Silent_p.L510L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	520										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCCGGTTATTATCAGATTCAG	0.368																																						uc003esa.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1516-1518)ttA>ttG		Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.							122	116	118					3																	137991889		1829	4089	5918	SO:0001819	synonymous_variant	25852						binding	g.chr3:137991889A>G		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1560A>G	3.37:g.137991889A>G						NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	p.L506L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			17	1885	+			520					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.1518A>G																																																																																					0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		G	137991889	A	G	137991889	2	3	15	1	0	0	0	0	0	0	0	1	957	446	16	4		4	ARMC8	3	137991889	Silent	SNP	A	TCGA-06-0130-01A-01D-1490-08	92914638	137991889	60030541	10	1032											
TEC	7006	broad.mit.edu	37	chr4	48140944	48140944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccagacatctgatttgCtgctgaagcggctgtaatta	11	12	10	8	1	1	4	0	3	1	1	1	4	1	4	1	1	3	4	1	1	3	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:48140944C>T	ENST00000381501.3	-	16	1788	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N	TEC_ENST00000511471.2_5'Flank	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATCTGATTTGCTGCTGAAGCG	0.438																																						uc003gxz.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1630-1632)aGc>aAc		Homo sapiens tec protein tyrosine kinase (TEC), mRNA.							105	92	97					4																	48140944		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48140944C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1631G>A	4.37:g.48140944C>T	ENSP00000370912:p.Ser544Asn						p.S544N	NM_003215	NP_003206	P42680	TEC_HUMAN			15	1722	-			544			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1631G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276697	0.95459	.	.	ENSG00000135605	ENST00000381501	D	0.83419	-1.72	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	L	0.39692	1.235	0.53688	D	0.999975	P	0.43431	0.807	P	0.46049	0.502	T	0.83072	-0.0142	10	0.52906	T	0.07	.	20.0471	0.97613	0.0:1.0:0.0:0.0	.	544	P42680	TEC_HUMAN	N	544	ENSP00000370912:S544N	ENSP00000370912:S544N	S	-	2	0	TEC	47835701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.959000	0.70339	2.815000	0.96918	0.561000	0.74099	AGC		0.438	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			T	48140944	C	T	48140944	3	4	15	1	0	0	0	0	1	0	0	0	15739	797	28	3	276	3	TEC	4	48140944	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		48140944	143013332	11	1033											
KIAA0922	23240	broad.mit.edu	37	chr4	154517485	154517485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatgaaaagggttggcGtagttttcacacctgctgac	11	11	12	7	1	1	2	1	2	0	0	1	3	1	3	1	3	1	4	1	3	4	4	rs369720504		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:154517485G>A	ENST00000409663.3	+	20	2120	c.2068G>A	c.(2068-2070)Gta>Ata	p.V690I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.V691I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.V607I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	690						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGGGTTGGCGTAGTTTTCAC	0.423																																						uc010ipp.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2071-2073)Gta>Ata		Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	183	161	169		2071,2068	5.6	0.9	4		169	0,8600		0,0,4300	no	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	691/1611,690/1610	154517485	1,13005	2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154517485G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2068G>A	4.37:g.154517485G>A	ENSP00000386574:p.Val690Ile					KIAA0922_uc003inm.4_Missense_Mutation_p.V690I|KIAA0922_uc010ipq.3_Missense_Mutation_p.V459I	p.V691I	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN			19	2123	+	all_hematologic(180;0.093)	Renal(120;0.118)	690					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2071G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799226	0.90538	2.27E-4	0.0	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.26373	2.07;1.74;2.07;1.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.994;0.998;0.932	T	0.37663	-0.9696	10	0.31617	T	0.26	-16.5468	18.3004	0.90162	0.0:0.0:1.0:0.0	.	607;691;690	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	690;607;691;468	ENSP00000386574:V690I;ENSP00000409663:V607I;ENSP00000386787:V691I;ENSP00000240487:V468I	ENSP00000240487:V468I	V	+	1	0	KIAA0922	154736935	1.000000	0.71417	0.890000	0.34922	0.871000	0.50021	7.673000	0.83973	2.630000	0.89119	0.591000	0.81541	GTA		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		A	154517485	G	A	154517485	3	1	15	1	0	0	0	0	1	0	0	0	8201	1145	40	1	2149	1	KIAA0922	4	154517485	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	106376541	154517485	36636791	12	1034											
C5orf36	285600	broad.mit.edu	37	chr5	93856069	93856069	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaattttgccatttctTctgtaacagtatccaggtaa	13	14	6	8	0	2	1	0	0	2	1	3	1	3	1	2	1	2	3	2	1	5	7			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr5:93856069T>G	ENST00000329378.7	-	5	1103	c.854A>C	c.(853-855)gAa>gCa	p.E285A	KIAA0825_ENST00000513200.3_Missense_Mutation_p.E285A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.E285A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E285A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	285										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCCATTTCTTCTGTAACAGT	0.348																																						uc011cuk.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(853-855)gAa>gCa		Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.							47	49	48					5																	93856069		2203	4298	6501	SO:0001583	missense	285600							g.chr5:93856069T>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.854A>C	5.37:g.93856069T>G	ENSP00000331385:p.Glu285Ala					KIAA0825_uc003kkp.2_Missense_Mutation_p.E285A	p.E285A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN			4	1111	-			285					O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	c.854A>C	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.574304	0.65878	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.85773	0.75;0.75;-2.03;-2.03	5.34	5.34	0.76211	.	0.058043	0.64402	D	0.000002	D	0.90752	0.7097	M	0.62723	1.935	0.36935	D	0.892086	D;D	0.89917	0.998;1.0	D;D	0.85130	0.96;0.997	D	0.93371	0.6735	10	0.87932	D	0	.	13.8902	0.63733	0.0:0.0:0.0:1.0	.	285;285	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	285	ENSP00000424618:E285A;ENSP00000400288:E285A;ENSP00000312205:E285A;ENSP00000331385:E285A	ENSP00000312205:E285A	E	-	2	0	KIAA0825	93881825	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.425000	0.59875	2.023000	0.59567	0.377000	0.23210	GAA		0.348	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		G	93856069	T	G	93856069	3	3	15	1	0	0	0	0	1	0	0	0	2295	1783	62	5	3046	5	C5orf36	5	93856069	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08		93856069	87059191	13	1035											
CYP21A2	1589	broad.mit.edu	37	chr6	32006249	32006249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgctggctggcgcccGcctgctgtggaactggtgga	3	8	16	14	2	0	0	0	0	0	0	0	2	0	2	4	5	3	3	4	5	1	0			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:32006249G>A	ENST00000418967.2	+	1	208	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R17H|C4B-AS1_ENST00000415626.1_RNA	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	0					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GCTGGCGCCCGCCTGCTGTGG	0.677																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						c.(49-51)cGc>cAc		Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.							4	5	5					6																	32006249		1451	2610	4061	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32006249G>A	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.50G>A	6.37:g.32006249G>A	ENSP00000408860:p.Arg17His					CYP21A2_uc003nzf.2_Missense_Mutation_p.R17H	p.R17H	NM_000500	NP_000491	P08686	CP21A_HUMAN			0	157	+			16					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.50G>A	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922895	0.33908	.	.	ENSG00000231852	ENST00000418967;ENST00000478281;ENST00000471671;ENST00000435122	T;T;T;T	0.81078	-0.49;-1.45;-0.11;-0.61	4.5	-0.976	0.10286	.	0.729658	0.11831	N	0.525209	T	0.38401	0.1039	N	0.24115	0.695	0.09310	N	0.99999	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.19712	-1.0297	10	0.17369	T	0.5	.	3.6436	0.08176	0.4115:0.0:0.4178:0.1707	.	17;17	Q5ST44;Q16874	.;.	H	17	ENSP00000408860:R17H;ENSP00000419572:R17H;ENSP00000418561:R17H;ENSP00000415043:R17H	ENSP00000408860:R17H	R	+	2	0	CYP21A2	32114228	0.004000	0.15560	0.664000	0.29753	0.618000	0.37518	0.074000	0.14662	0.041000	0.15688	0.462000	0.41574	CGC		0.677	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		A	32006249	G	A	32006249	3	1	15	1	0	0	0	0	1	0	0	0	4153	1087	38	1	1573	1	CYP21A2	6	32006249	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		32006249	139108818	14	1036											
COL12A1	1303	broad.mit.edu	37	chr6	75797410	75797410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acggccaggggggccaggggGacctcttgaacctgtggacc	7	5	17	12	1	1	1	0	1	1	0	1	3	1	3	5	7	1	0	5	7	1	1	rs200901687	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:75797410G>A	ENST00000322507.8	-	65	9373	c.9064C>T	c.(9064-9066)Ccc>Tcc	p.P3022S	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2946S|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1858S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P3018S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3022	Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P3022T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCAGGGGGACCTCTTGAA	0.522													G|||	3	0.000599042	0.0015	0	5008	,	,		17481	0.001		0	False		,,,				2504	0					uc021zbv.1																			1	Substitution - Missense(1)	p.P3022T(2)	upper_aerodigestive_tract(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(9064-9066)Ccc>Tcc		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.		G	SER/PRO,SER/PRO	12,3754		0,12,1871	75	83	80		9064,5572	5.8	1	6		80	0,8194		0,0,4097	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	74,74	0,12,5968	AA,AG,GG		0.0,0.3186,0.1003	probably-damaging,probably-damaging	3022/3064,1858/1900	75797410	12,11948	1883	4097	5980	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75797410G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.9064C>T	6.37:g.75797410G>A	ENSP00000325146:p.Pro3022Ser					COL12A1_uc021zbw.1_Missense_Mutation_p.P1858S|COL12A1_uc003phs.3_Missense_Mutation_p.P3022S|COL12A1_uc003pht.3_Missense_Mutation_p.P1858S	p.P3022S	NM_004370	NP_004361	Q99715	COCA1_HUMAN			63	9099	-			3022			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.9064C>T	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.5	4.421010	0.83559	0.003186	0.0	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.93247	-2.37;-3.19;-2.43;-2.38;-2.46	5.75	5.75	0.90469	.	0.115867	0.64402	D	0.000017	D	0.91771	0.7397	L	0.56199	1.76	0.48571	D	0.999671	P;P	0.51537	0.946;0.615	P;B	0.46253	0.509;0.158	D	0.91424	0.5161	10	0.48119	T	0.1	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	1858;3022	Q99715-2;Q99715	.;COCA1_HUMAN	S	3022;660;2946;1858;2946;3018	ENSP00000325146:P3022S;ENSP00000399812:P660S;ENSP00000305147:P1858S;ENSP00000412864:P2946S;ENSP00000421216:P3018S	ENSP00000325146:P3022S	P	-	1	0	COL12A1	75854130	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.639000	0.83342	2.719000	0.93026	0.655000	0.94253	CCC		0.522	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		A	75797410	G	A	75797410	3	1	15	1	0	0	0	0	1	0	0	0	3669	1174	41	3	135	3	COL12A1	6	75797410	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	43791161	75797410	95317657	15	1037											
MEST	4232	broad.mit.edu	37	chr7	130139717	130139717	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agataagtctcttctacaggTatctttcctgagactcaccg	10	13	7	11	1	4	2	1	1	3	2	6	3	5	2	2	1	1	1	2	1	3	5			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:130139717T>A	ENST00000223215.4	+	7	758	c.537T>A	c.(535-537)ggT>ggA	p.G179G	MEST_ENST00000437945.1_Splice_Site_p.G179G|MEST_ENST00000378576.4_Splice_Site_p.G170G|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Splice_Site_p.G170G|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000416162.2_Splice_Site_p.G170G|MEST_ENST00000341441.5_Splice_Site_p.G170G	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	179					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTTCTACAGGTATCTTTCCTG	0.413																																					Colon(126;2182 2305 6517 35181)	uc003vqg.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.e7-1		Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.							106	95	98					7																	130139717		2203	4300	6503	SO:0001630	splice_region_variant	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130139717T>A		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.536-1T>A	7.37:g.130139717T>A						MEST_uc003vqc.3_Splice_Site_p.G170_splice|MEST_uc003vqd.3_Splice_Site_p.G170_splice|MEST_uc022alp.1_Splice_Site_p.G170_splice|MEST_uc003vqf.3_Splice_Site_p.G170_splice|MEST_uc011kph.2_Splice_Site_p.G165_splice	p.G179_splice	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			7	792	+	Melanoma(18;0.0435)		179					B2R6S1|O14973|O15007|Q6AI49|Q92571	Silent	SNP	ENST00000223215.4	37	c.536_splice	CCDS5822.1																																																																																				0.413	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	Silent	A	130139717	T	A	130139717	5	1	15	1	0	0	0	0	0	0	1	0	9484	1652	57	5	563	5	MEST	7	130139717	Splice_Site	SNP	T	TCGA-06-0130-01A-01D-1490-08		130139717	28998946	16	1038											
OR2F2	135948	broad.mit.edu	37	chr7	143632696	143632696	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctatgaccgccatgTggctgtgtctgaccgcctgc	5	10	13	13	2	1	2	0	2	1	0	1	3	1	2	5	2	1	1	5	2	1	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:143632696T>G	ENST00000408955.2	+	1	438	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GACCGCCATGTGGCTGTGTCT	0.562																																						uc011ktv.2																			0		p.H123Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(370-372)gTg>gGg		Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.							121	109	113					7																	143632696		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632696T>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.371T>G	7.37:g.143632696T>G	ENSP00000386222:p.Val124Gly						p.V124G	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			0	371	+	Melanoma(164;0.0903)		124					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.371T>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219465	0.39201	.	.	ENSG00000221910	ENST00000408955	T	0.01464	4.86	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000270	T	0.06645	0.0170	H	0.95004	3.61	0.54753	D	0.99998	P	0.38335	0.627	B	0.39771	0.309	T	0.00668	-1.1618	10	0.87932	D	0	-33.8709	10.6227	0.45489	0.0:0.0:0.0:1.0	.	124	O95006	OR2F2_HUMAN	G	124	ENSP00000386222:V124G	ENSP00000386222:V124G	V	+	2	0	OR2F2	143263629	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.013000	0.57138	1.664000	0.50801	0.402000	0.26972	GTG		0.562	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			G	143632696	T	G	143632696	3	3	15	1	0	0	0	0	1	0	0	0	10997	1696	59	5	373	5	OR2F2	7	143632696	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	13492979	143632696	15505967	17	1039											
FBXO32	114907	broad.mit.edu	37	chr8	124518764	124518764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcctctgcatgatgttCagttgtaggcacaaaggcag	10	10	11	10	0	3	1	2	1	1	0	3	1	3	1	1	2	2	6	1	2	2	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr8:124518764C>T	ENST00000517956.1	-	7	893	c.702G>A	c.(700-702)ctG>ctA	p.L234L	FBXO32_ENST00000443022.2_Silent_p.L141L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	234	F-box.				cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCATGATGTTCAGTTGTAGGC	0.622																																						uc003yqr.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(700-702)ctG>ctA		Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.							75	68	70					8																	124518764		2203	4300	6503	SO:0001819	synonymous_variant	114907							g.chr8:124518764C>T	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"F-boxes /  "other""	16731	protein-coding gene	gene with protein product		606604	"F-box only protein 32"			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.702G>A	8.37:g.124518764C>T						FBXO32_uc003yqp.2_Silent_p.L89L|FBXO32_uc010mdk.3_Silent_p.L141L	p.L234L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	941	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		234			F-box.		A4KYM0	Silent	SNP	ENST00000517956.1	37	c.702G>A	CCDS6345.1																																																																																				0.622	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			T	124518764	C	T	124518764	2	4	15	1	0	0	0	0	0	0	0	1	5742	813	29	3		3	FBXO32	8	124518764	Silent	SNP	C	TCGA-06-0130-01A-01D-1490-08		124518764	21845258	18	1040											
TEK	7010	broad.mit.edu	37	chr9	27206739	27206739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaagttcttaaggcgCgcatcaagaaggatgggtta	11	10	13	7	2	2	1	1	0	1	1	2	2	2	2	1	4	0	3	1	4	5	4	rs147231791		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:27206739C>T	ENST00000380036.4	+	15	2966	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C	TEK_ENST00000406359.4_Missense_Mutation_p.R799C|TEK_ENST00000519097.1_Missense_Mutation_p.R694C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTTAAGGCGCGCATCAAGAA	0.453													C|||	1	0.000199681	0	0	5008	,	,		19571	0.001		0	False		,,,				2504	0					uc011lno.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2395-2397)Cgc>Tgc		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							77	69	72					9																	27206739		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27206739C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2524C>T	9.37:g.27206739C>T	ENSP00000369375:p.Arg842Cys					TEK_uc003zqi.4_Missense_Mutation_p.R842C|TEK_uc011lnp.2_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	p.R799C	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	13	2837	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	842					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2395C>T	CCDS6519.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.950270	0.73787	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.70749	-0.51;-0.51;-0.51	5.9	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000097	T	0.80954	0.4723	L	0.52364	1.645	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.87578	0.797;0.962;0.916;0.998	T	0.82800	-0.0278	10	0.66056	D	0.02	.	16.5583	0.84512	0.1315:0.8685:0.0:0.0	.	694;875;799;842	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	C	694;842;799	ENSP00000430686:R694C;ENSP00000369375:R842C;ENSP00000383977:R799C	ENSP00000369375:R842C	R	+	1	0	TEK	27196739	0.997000	0.39634	0.840000	0.33206	0.942000	0.58702	3.784000	0.55416	1.500000	0.48636	0.637000	0.83480	CGC		0.453	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27206739	C	T	27206739	3	4	15	1	0	0	0	0	1	0	0	0	15748	768	27	1	2582	1	TEK	9	27206739	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		27206739	114006692	19	1041											
FLJ46321	389763	broad.mit.edu	37	chr9	84607173	84607173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctactacctagtcctctAttcctgattaggatctgtgg	7	14	8	12	0	2	1	0	1	2	0	4	2	4	2	4	2	2	0	4	2	5	6			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:84607173A>G	ENST00000344803.2	+	4	1835	c.1788A>G	c.(1786-1788)ctA>ctG	p.L596L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	596					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTAGTCCTCTATTCCTGATTA	0.512																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(1786-1788)ctA>ctG		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							121	111	115					9																	84607173		1910	4125	6035	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607173A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1788A>G	9.37:g.84607173A>G							p.L596L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	1835	+			596						Silent	SNP	ENST00000344803.2	37	c.1788A>G	CCDS47986.1																																																																																				0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84607173	A	G	84607173	2	3	15	1	0	0	0	0	0	0	0	1	5932	436	16	4		4	FLJ46321	9	84607173	Silent	SNP	A	TCGA-06-0130-01A-01D-1490-08	57400434	84607173	56606258	20	1042											
OR4C6	219432	broad.mit.edu	37	chr11	55433335	55433335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttacagctctaaagggcgGcacaaagccctctctacctg	10	9	8	14	1	3	0	0	0	3	0	4	0	3	0	2	2	4	2	2	2	5	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr11:55433335G>A	ENST00000314259.3	+	1	722	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507																																						uc010rik.2																			1	Substitution - coding silent(1)	p.R231R(2)|p.R231W(1)	kidney(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(691-693)cgG>cgA		Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.							131	125	127					11																	55433335		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433335G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.693G>A	11.37:g.55433335G>A							p.R231R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			0	693	+			231					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.693G>A	CCDS31506.1																																																																																				0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		A	55433335	G	A	55433335	2	1	15	1	0	0	0	0	0	0	0	1	11052	1190	42	3		3	OR4C6	11	55433335	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08		55433335	79573181	21	1043											
HELB	92797	broad.mit.edu	37	chr12	66725048	66725048	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtatgtgattgcagagGagtctcagctccggaatgcc	9	10	14	8	1	1	2	1	1	1	1	3	5	2	4	2	2	3	3	2	2	2	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr12:66725048G>T	ENST00000247815.4	+	12	2844	c.2785G>T	c.(2785-2787)Gag>Tag	p.E929*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	929					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GATTGCAGAGGAGTCTCAGCT	0.532																																						uc001sti.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2785-2787)Gag>Tag		Homo sapiens helicase (DNA) B (HELB), mRNA.							47	50	49					12																	66725048		2203	4300	6503	SO:0001587	stop_gained	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725048G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2785G>T	12.37:g.66725048G>T	ENSP00000247815:p.Glu929*					HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	p.E929*	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	11	2813	+			929					A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	c.2785G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	39	7.593544	0.98378	.	.	ENSG00000127311	ENST00000247815	.	.	.	5.27	5.27	0.74061	.	0.237071	0.32836	N	0.005589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8988	17.0629	0.86552	0.0:0.0:1.0:0.0	.	.	.	.	X	929	.	.	E	+	1	0	HELB	65011315	0.997000	0.39634	0.984000	0.44739	0.629000	0.37895	2.837000	0.48191	2.450000	0.82876	0.561000	0.74099	GAG		0.532	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			T	66725048	G	T	66725048	4	4	15	1	0	0	0	0	0	1	0	0	7045	1175	41	5	2831	5	HELB	12	66725048	Nonsense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		66725048	67126847	22	1044											
RB1	5925	broad.mit.edu	37	chr13	49039505	49039505	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgactccaagatcaagGtgtgtgttttctctttaggg	11	14	10	6	0	2	2	1	1	1	1	4	2	3	2	1	2	0	1	1	2	5	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr13:49039505G>T	ENST00000267163.4	+	23	2627		c.e23+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAAGATCAAGGTGTGTGTTTT	0.358		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		27	Whole gene deletion(15)|Unknown(12)	p.0?(15)|p.?(12)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS030560|CS030561	RB1	S		c.e23+1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						52	55	54					13																	49039505		2200	4299	6499	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039505G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2489+1G>T	13.37:g.49039505G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R830_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2655	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	830			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.2489_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325872	0.81580	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47937506	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.524000	0.90579	2.669000	0.90835	0.591000	0.81541	.		0.358	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	T	49039505	G	T	49039505	5	4	15	1	0	0	0	0	0	0	1	0	13098	1275	44	5	2580	5	RB1	13	49039505	Splice_Site	SNP	G	TCGA-06-0130-01A-01D-1490-08		49039505	66130373	23	1045											
C14orf37	145407	broad.mit.edu	37	chr14	58605421	58605421	+	Frame_Shift_Del	DEL	T	T	-																															caaatttctcagtctttggaTtggtggttagcatttcctta																										TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr14:58605421delT	ENST00000267485.7	-	2	850	c.656delA	c.(655-657)aatfs	p.N219fs	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	219						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTTTGGATTGGTGGTTAG	0.448																																						uc010tro.2																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(769-771)aatfs		Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.							130	118	122					14																	58605421		2203	4300	6503	SO:0001589	frameshift_variant	145407					integral to membrane	binding	g.chr14:58605421delT		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.656delA	14.37:g.58605421delT	ENSP00000267485:p.Asn219fs					C14orf37_uc001xdc.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xdd.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.3_Frame_Shift_Del_p.N219fs	p.N257fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	968	-			219					A8K8Z8|Q6P5Q1|Q86TY1	Frame_Shift_Del	DEL	ENST00000267485.7	37	c.770delA	CCDS32089.1																																																																																				0.448	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		-	58605421	T	-	58605421	7	5	15	1	0	1	0	1	0	0	0	0	1771	1493	52	0	1696	0	C14orf37	14	58605421	Frame_Shift_Del	DEL	T	TCGA-06-0130-01A-01D-1490-08		58605421	48744119	24	1046											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658653	43658653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacactgttccagggtccGgaggaagccatattccctga	9	8	11	13	2	0	1	0	1	0	0	3	4	3	3	5	3	1	1	5	3	2	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:43658653G>A	ENST00000396976.2	-	3	1011	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R292W	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCCAGGGTCCGGAGGAAGCCA	0.542																																						uc001zrk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(877-879)Cgg>Tgg		Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.							72	78	76					15																	43658653		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658653G>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.877C>T	15.37:g.43658653G>A	ENSP00000380174:p.Arg293Trp					ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R292W	p.R293W	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	2	1024	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	293					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.877C>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984977	0.74474	.	.	ENSG00000140265	ENST00000396976	T	0.56776	0.44	4.98	4.07	0.47477	.	0.258640	0.28006	N	0.016978	T	0.78123	0.4234	H	0.94808	3.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.971	T	0.82898	-0.0229	10	0.87932	D	0	-0.0535	11.1198	0.48281	0.0896:0.0:0.9104:0.0	.	292;293;293	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	W	293	ENSP00000380174:R293W	ENSP00000380174:R293W	R	-	1	2	ZSCAN29	41445945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.581000	0.46077	1.319000	0.45190	0.655000	0.94253	CGG		0.542	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		A	43658653	G	A	43658653	3	1	15	1	0	0	0	0	1	0	0	0	18233	1115	39	2	1693	2	ZSCAN29	15	43658653	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		43658653	58872739	25	1047											
FANCI	55215	broad.mit.edu	37	chr15	89859689	89859689	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaagaaaaggaaaaaatAaatgaaatgcctgagttaat	23	7	8	3	0	0	4	0	2	0	2	0	5	0	5	1	1	1	1	1	1	11	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:89859689A>C	ENST00000310775.7	+	38	4072	c.3986A>C	c.(3985-3987)tAa>tCa	p.*1329S	POLG_ENST00000442287.2_3'UTR|POLG_ENST00000268124.5_3'UTR|FANCI_ENST00000300027.8_Nonstop_Mutation_p.*1269S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	0					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGAAAAAATAAATGAAATGC	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3985-3987)tAa>tCa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.							37	36	36					15																	89859689		2200	4299	6499	SO:0001578	stop_lost	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89859689A>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3986A>C	15.37:g.89859689A>C	ENSP00000310842:p.*1329Serext*6					FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	p.*1329S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			37	4076	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		0					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Nonstop_Mutation	SNP	ENST00000310775.7	37	c.3986A>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446240	0.63178	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	.	.	.	4.3	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2049	0.25901	0.8913:0.0:0.1087:0.0	.	.	.	.	S	1269;1329	.	.	X	+	2	2	FANCI	87660693	0.905000	0.30787	0.985000	0.45067	0.989000	0.77384	1.852000	0.39348	1.563000	0.49615	0.533000	0.62120	TAA		0.438	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		C	89859689	A	C	89859689	4	2	15	1	0	0	0	0	0	0	0	0	5669	369	13	5	4132	5	FANCI	15	89859689	Nonstop_Mutation	SNP	A	TCGA-06-0130-01A-01D-1490-08	46201036	89859689	12671703	26	1048											
CHST5	23563	broad.mit.edu	37	chr16	75563927	75563927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgcacaaaaagatagagCgcatcaggtcgcgcacggcc	12	5	12	12	5	1	2	1	0	0	2	3	2	1	2	1	2	1	3	1	2	3	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75563927C>T	ENST00000336257.3	-	3	1750	c.356G>A	c.(355-357)cGc>cAc	p.R119H	CHST5_ENST00000541075.1_Missense_Mutation_p.R125H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	119					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AAAGATAGAGCGCATCAGGTC	0.617																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(373-375)cGc>cAc		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							69	60	63					16																	75563927		2198	4300	6498	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563927C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.356G>A	16.37:g.75563927C>T	ENSP00000338783:p.Arg119His					CHST5_uc002fei.3_Missense_Mutation_p.R119H|CHST5_uc021tlk.1_Missense_Mutation_p.R119H	p.R125H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	695	-			119					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.374G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432580	0.43224	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.82984	-1.67;-1.67	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.67625	2.065	0.53005	D	0.999968	D;D	0.60575	0.985;0.988	P;P	0.60068	0.792;0.868	D	0.87496	0.2430	10	0.51188	T	0.08	.	12.3965	0.55389	0.0:1.0:0.0:0.0	.	125;119	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	H	119;125	ENSP00000338783:R119H;ENSP00000441220:R125H	ENSP00000338783:R119H	R	-	2	0	CHST5	74121428	1.000000	0.71417	0.977000	0.42913	0.055000	0.15305	4.525000	0.60559	1.514000	0.48869	0.313000	0.20887	CGC		0.617	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		T	75563927	C	T	75563927	3	4	15	1	0	0	0	0	1	0	0	0	3407	768	27	1	883	1	CHST5	16	75563927	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		75563927	14790826	27	1049											
KARS	3735	broad.mit.edu	37	chr16	75670442	75670442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttttggcatggatcCtacctagaaaaagaagagca	15	9	9	8	0	1	3	0	0	1	3	2	4	2	4	2	2	3	3	2	2	6	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75670442C>G	ENST00000302445.3	-	4	431	c.392G>C	c.(391-393)aGg>aCg	p.R131T	KARS_ENST00000319410.5_Missense_Mutation_p.R159T|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	131					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCATGGATCCTACCTAGAAA	0.408																																						uc002feq.3																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(391-393)aGg>aCg		Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	L-Lysine(DB00123)						105	109	107					16																	75670442		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75670442C>G	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.392G>C	16.37:g.75670442C>G	ENSP00000303043:p.Arg131Thr					KARS_uc002fer.3_Missense_Mutation_p.R159T|KARS_uc010cgz.3_5'UTR	p.R131T	NM_005548	NP_005539	Q15046	SYK_HUMAN			3	440	-			131					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.392G>C	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069365	0.93950	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.73681	-0.77;-0.77	5.96	5.96	0.96718	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	H	0.99914	4.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96345	0.9254	10	0.87932	D	0	-19.3774	19.0001	0.92830	0.0:1.0:0.0:0.0	.	159;131	Q15046-2;Q15046	.;SYK_HUMAN	T	159;131	ENSP00000325448:R159T;ENSP00000303043:R131T	ENSP00000303043:R131T	R	-	2	0	KARS	74227943	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.603000	0.82811	2.832000	0.97577	0.655000	0.94253	AGG		0.408	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		G	75670442	C	G	75670442	3	3	15	1	0	0	0	0	1	0	0	0	7980	681	24	5	1445	5	KARS	16	75670442	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	106515	75670442	14684311	28	1050											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2	rs587782144		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM994513	TP53	M		c.(472-474)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49	51	50					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578457	C	T	7578457	3	4	15	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		7578457	73616753	29	1051											
CYP4F2	8529	broad.mit.edu	37	chr19	15989675	15989675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtggtcaggcaggacgCggaagcgcagcagcgtgagc	8	4	19	10	5	1	1	1	1	0	0	1	3	1	3	0	5	4	3	0	5	1	0	rs143677430	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:15989675C>T	ENST00000221700.6	-	13	1564	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCAGGACGCGGAAGCGCAG	0.672																																						uc002nbs.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1468-1470)cGc>cAc		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.		C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	40	38	39		1469	2.6	0.5	19	dbSNP_134	39	0,8600		0,0,4300	no	missense	CYP4F2	NM_001082.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	490/521	15989675	5,13001	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989675C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1469G>A	19.37:g.15989675C>T	ENSP00000221700:p.Arg490His					CYP4F2_uc010xot.1_Missense_Mutation_p.R341H	p.R490H	NM_001082	NP_001073	P78329	CP4F2_HUMAN			12	1519	-			490						Missense_Mutation	SNP	ENST00000221700.6	37	c.1469G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.888	1.203359	0.22121	0.001135	0.0	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69561	-0.41	2.63	2.63	0.31362	.	0.234392	0.26414	U	0.024509	T	0.60183	0.2249	L	0.57130	1.785	0.50313	D	0.999864	B	0.26708	0.157	B	0.34931	0.192	T	0.59198	-0.7499	10	0.42905	T	0.14	.	5.4571	0.16596	0.0:0.8371:0.0:0.1629	.	490	P78329	CP4F2_HUMAN	H	490;341	ENSP00000221700:R490H	ENSP00000221700:R490H	R	-	2	0	CYP4F2	15850675	0.302000	0.24454	0.510000	0.27712	0.260000	0.26232	1.084000	0.30828	1.453000	0.47775	0.491000	0.48974	CGC		0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		T	15989675	C	T	15989675	3	4	15	1	0	0	0	0	1	0	0	0	4188	768	27	1	97	1	CYP4F2	19	15989675	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		15989675	43139308	30	1052											
ZNF578	147660	broad.mit.edu	37	chr19	53014344	53014344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccaatgtaatgagactgGcgaagcctttaattgtagct	11	14	9	7	1	0	1	0	1	0	1	1	3	1	1	2	1	2	3	2	1	5	6			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:53014344G>T	ENST00000421239.2	+	6	954	c.710G>T	c.(709-711)gGc>gTc	p.G237V	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AATGAGACTGGCGAAGCCTTT	0.313																																						uc002pzp.4																			0											c.(709-711)gGc>gTc		Homo sapiens zinc finger protein 578 (ZNF578), mRNA.							69	71	70					19																	53014344		2203	4299	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014344G>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.710G>T	19.37:g.53014344G>T	ENSP00000459216:p.Gly237Val						p.G237V	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	954	+			12					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.710G>T	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.30	1.897237	0.33535	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-1.44	0.08856	.	.	.	.	.	T	0.75474	0.3854	M	0.91354	3.2	0.33248	D	0.55814	D	0.89917	1.0	D	0.91635	0.999	T	0.75488	-0.3300	7	.	.	.	.	6.4429	0.21859	0.2715:0.0:0.7285:0.0	.	237	G3V4F6	.	V	237	.	.	G	+	2	0	ZNF578	57706156	0.003000	0.15002	0.001000	0.08648	0.110000	0.19582	-0.032000	0.12266	-0.487000	0.06735	0.297000	0.19635	GGC		0.313	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		T	53014344	G	T	53014344	3	4	15	1	0	0	0	0	1	0	0	0	18007	1203	42	5	720	5	ZNF578	19	53014344	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	37024669	53014344	6114639	31	1053											
LAIR1	3903	broad.mit.edu	37	chr19	54875933	54875933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatggtctgggccaggcaGagcactggaagagaagcccc	10	5	16	10	0	1	2	0	0	1	2	1	5	1	4	3	5	2	2	3	5	2	0			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:54875933G>A	ENST00000391742.2	-	2	191	c.39C>T	c.(37-39)ctC>ctT	p.L13L	LAIR1_ENST00000434277.2_Silent_p.L13L|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Silent_p.L13L|LAIR1_ENST00000313038.6_Silent_p.L7L|LAIR1_ENST00000348231.4_Silent_p.L13L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	13					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGCCAGGCAGAGCACTGGAA	0.617																																						uc002qfk.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(37-39)ctC>ctT		Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.							75	69	71					19																	54875933		2203	4300	6503	SO:0001819	synonymous_variant	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54875933G>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.39C>T	19.37:g.54875933G>A						LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.2_Silent_p.L7L|LAIR1_uc002qfo.3_Intron	p.L13L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	1	349	-	Ovarian(34;0.19)		13						Silent	SNP	ENST00000391742.2	37	c.39C>T	CCDS12891.1																																																																																				0.617	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			A	54875933	G	A	54875933	2	1	15	1	0	0	0	0	0	0	0	1	8602	929	33	3		3	LAIR1	19	54875933	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08	1861589	54875933	4253050	32	1054											
PTPRA	5786	broad.mit.edu	37	chr20	3003414	3003414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagaacggaaggtggacGtgtatggctttgtgagccgg	10	9	16	6	3	0	2	0	1	0	1	0	4	0	4	1	5	3	2	1	5	4	3	rs200587047		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:3003414G>A	ENST00000216877.6	+	15	1781	c.1381G>A	c.(1381-1383)Gtg>Atg	p.V461M	PTPRA_ENST00000380393.3_Missense_Mutation_p.V470M|PTPRA_ENST00000318266.5_Missense_Mutation_p.V461M|PTPRA_ENST00000358719.4_Missense_Mutation_p.V326M|PTPRA_ENST00000425918.2_Missense_Mutation_p.V481M|PTPRA_ENST00000356147.3_Missense_Mutation_p.V461M|PTPRA_ENST00000399903.2_Missense_Mutation_p.V470M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	470	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGTGGACGTGTATGGCTT	0.577																																						uc010zqd.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1441-1443)Gtg>Atg		Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.							191	131	151					20																	3003414		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3003414G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1381G>A	20.37:g.3003414G>A	ENSP00000216877:p.Val461Met					PTPRA_uc002whj.3_Missense_Mutation_p.V470M|PTPRA_uc002whk.3_Missense_Mutation_p.V461M|PTPRA_uc002whl.3_Missense_Mutation_p.V461M|PTPRA_uc002whm.3_Missense_Mutation_p.V237M|PTPRA_uc002whn.3_Missense_Mutation_p.V461M|PTPRA_uc002who.3_Missense_Mutation_p.V133M	p.V481M	NM_002836	NP_002827	P18433	PTPRA_HUMAN			14	1758	+			470			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1441G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095059	0.94197	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	D	0.93374	0.7887	M	0.88450	2.955	0.80722	D	1	D;P;D	0.76494	0.999;0.952;0.982	D;P;P	0.63283	0.913;0.656;0.83	D	0.94003	0.7277	10	0.87932	D	0	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	481;470;461	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	470;461;470;326;80;481;461;461	ENSP00000369756:V470M;ENSP00000216877:V461M;ENSP00000382787:V470M;ENSP00000351559:V326M;ENSP00000393553:V481M;ENSP00000314568:V461M;ENSP00000348468:V461M	ENSP00000216877:V461M	V	+	1	0	PTPRA	2951414	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	6.750000	0.74888	2.708000	0.92522	0.561000	0.74099	GTG		0.577	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			A	3003414	G	A	3003414	3	1	15	1	0	0	0	0	1	0	0	0	12795	1145	40	1	1458	1	PTPRA	20	3003414	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		3003414	60022106	33	1055											
KIF16B	55614	broad.mit.edu	37	chr20	16496298	16496298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcacgacatctgtgccgagGgttttgaaaacctgaaagcc	11	10	10	10	2	2	2	1	2	1	0	2	4	2	2	3	1	3	1	3	1	3	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:16496298G>A	ENST00000354981.2	-	4	400	c.243C>T	c.(241-243)acC>acT	p.T81T	KIF16B_ENST00000408042.1_Silent_p.T81T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T81T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	81	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGTGCCGAGGGTTTTGAAAA	0.373																																						uc002wpg.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(241-243)acC>acT		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							80	74	76					20																	16496298		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16496298G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.243C>T	20.37:g.16496298G>A						KIF16B_uc010gch.2_Silent_p.T81T|KIF16B_uc010gci.2_Silent_p.T81T|KIF16B_uc010gcj.2_Silent_p.T81T	p.T81T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			3	402	-			81			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.243C>T	CCDS13122.1																																																																																				0.373	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16496298	G	A	16496298	2	1	15	1	0	0	0	0	0	0	0	1	8278	1219	43	3		3	KIF16B	20	16496298	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08	13492884	16496298	46529222	34	1056											
WFDC8	90199	broad.mit.edu	37	chr20	44181787	44181787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttacctgtccaggcccTggcacaaacaaagccacacc	12	6	6	17	0	0	0	0	0	0	0	2	0	2	0	6	2	3	1	6	2	3	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:44181787T>C	ENST00000357199.4	-	5	652	c.574A>G	c.(574-576)Agg>Ggg	p.R192G	WFDC8_ENST00000289953.2_Missense_Mutation_p.R192G	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	192	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTCCAGGCCCTGGCACAAACA	0.502																																						uc002xow.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(574-576)Agg>Ggg		Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.							136	118	124					20																	44181787		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181787T>C	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.574A>G	20.37:g.44181787T>C	ENSP00000361735:p.Arg192Gly					WFDC8_uc002xox.3_Missense_Mutation_p.R192G	p.R192G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			4	653	-		Myeloproliferative disorder(115;0.0122)	192			WAP 2.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.574A>G	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785592	0.31593	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	D;D	0.90004	-2.6;-2.6	4.91	-5.92	0.02261	Whey acidic protein, 4-disulphide core (4);	3.132180	0.00815	N	0.001524	T	0.78553	0.4301	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.22386	0.039	T	0.63368	-0.6653	10	0.28530	T	0.3	.	2.2856	0.04125	0.1315:0.3699:0.2686:0.23	.	192	Q8IUA0	WFDC8_HUMAN	G	192	ENSP00000361735:R192G;ENSP00000289953:R192G	ENSP00000289953:R192G	R	-	1	2	WFDC8	43615201	0.000000	0.05858	0.002000	0.10522	0.104000	0.19210	-1.773000	0.01786	-0.828000	0.04273	0.533000	0.62120	AGG		0.502	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			C	44181787	T	C	44181787	3	2	15	1	0	0	0	0	1	0	0	0	17353	1579	55	4	159	4	WFDC8	20	44181787	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	27685489	44181787	18843733	35	1057											
TPTE	7179	broad.mit.edu	37	chr21	10951271	10951271	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataatcaaacttacctttcTacaaatactcgaagaagaac	19	10	3	9	1	2	2	1	0	1	2	3	3	2	2	1	0	5	0	1	0	10	5			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr21:10951271T>A	ENST00000361285.4	-	10	770	c.441A>T	c.(439-441)gtA>gtT	p.V147V	TPTE_ENST00000342420.5_Silent_p.V109V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.V129V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	147					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACCTTTCTACAAATACTC	0.358																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(439-441)gtA>gtT		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							60	65	63					21																	10951271		2202	4298	6500	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951271T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.441A>T	21.37:g.10951271T>A						TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V	p.V147V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	809	-			147					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.441A>T	CCDS13560.2																																																																																				0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10951271	T	A	10951271	2	1	15	1	0	0	0	0	0	0	0	1	16427	1509	53	5		5	TPTE	21	10951271	Silent	SNP	T	TCGA-06-0130-01A-01D-1490-08		10951271	37178624	36	1058											
RNF207	388591	broad.mit.edu	37	chr1	6271141	6271141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccactgctgctgctggggCcacgtcgggtggcagctgct	4	8	16	13	2	0	0	0	0	0	0	1	0	0	0	2	4	6	6	2	4	0	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:6271141C>T	ENST00000377939.4	+	12	1199	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	RNF207_ENST00000377948.2_Intron	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	358						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTGCTGGGGCCACGTCGGGT	0.667																																						uc001amg.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(1072-1074)Cca>Tca		Homo sapiens ring finger protein 207 (RNF207), mRNA.							14	18	17					1																	6271141		2090	4209	6299	SO:0001583	missense	388591					intracellular	zinc ion binding	g.chr1:6271141C>T	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1072C>T	1.37:g.6271141C>T	ENSP00000367173:p.Pro358Ser					RNF207_uc010nzp.1_Non-coding_Transcript	p.P358S	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	11	1246	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	358					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	c.1072C>T	CCDS59.2	.	.	.	.	.	.	.	.	.	.	C	6.842	0.524680	0.13066	.	.	ENSG00000158286	ENST00000377939	T	0.17691	2.26	4.26	3.27	0.37495	.	0.111590	0.33364	U	0.004998	T	0.17195	0.0413	L	0.60455	1.87	0.80722	D	1	B	0.31680	0.335	B	0.25140	0.058	T	0.08513	-1.0718	10	0.33141	T	0.24	-19.1239	14.7461	0.69490	0.0:0.8406:0.1593:0.0	.	358	Q6ZRF8	RN207_HUMAN	S	358	ENSP00000367173:P358S	ENSP00000367173:P358S	P	+	1	0	RNF207	6193728	0.002000	0.14202	0.966000	0.40874	0.216000	0.24613	1.447000	0.35101	1.956000	0.56807	0.456000	0.33151	CCA		0.667	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		T	6271141	C	T	6271141	3	4	16	1	0	0	0	0	1	0	0	0	13474	739	26	3	1114	3	RNF207	1	6271141	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		6271141	242979480	1	1059											
CAMTA1	23261	broad.mit.edu	37	chr1	7723936	7723936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggccacaagttcgcCtttcccaccacgggcagctc	7	9	9	16	2	1	1	0	1	1	0	4	1	2	1	4	2	1	3	4	2	1	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723936C>T	ENST00000303635.7	+	9	1536	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	CAMTA1_ENST00000439411.2_Silent_p.A443A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAAGTTCGCCTTTCCCACCA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1327-1329)gcC>gcT		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							80	79	79					1																	7723936		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723936C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1329C>T	1.37:g.7723936C>T							p.A443A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	8	1536	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	443					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1329C>T	CCDS30576.1																																																																																				0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7723936	C	T	7723936	2	4	16	1	0	0	0	0	0	0	0	1	2613	668	24	3		3	CAMTA1	1	7723936	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	1452795	7723936	241526685	2	1060			1	6		2	2	62	C		7.487585e-05
CAMTA1	23261	broad.mit.edu	37	chr1	7723997	7723997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaacgtgtccgaagagCtggtcctctccaccaccctc	8	7	7	19	2	1	1	0	0	1	1	5	2	3	1	7	1	2	1	7	1	2	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723997C>T	ENST00000303635.7	+	9	1597	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L	CAMTA1_ENST00000439411.2_Silent_p.L464L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCGAAGAGCTGGTCCTCTC	0.597			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1390-1392)Ctg>Ttg		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							74	81	79					1																	7723997		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723997C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1390C>T	1.37:g.7723997C>T							p.L464L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	8	1597	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	464					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1390C>T	CCDS30576.1																																																																																				0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7723997	C	T	7723997	2	4	16	1	0	0	0	0	0	0	0	1	2613	796	28	3		3	CAMTA1	1	7723997	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	61	7723997	241526624	3	1061			1	6		2	2	62	C		7.487585e-05
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	12	5	13	11	2	0	2	0	1	0	1	1	3	0	3	2	2	3	3	2	2	4	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						uc001cck.3																			1	Substitution - Missense(1)	p.P143S(2)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Tcc		Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.							92	93	92					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>T	1.37:g.38463709G>A	ENSP00000362107:p.Pro143Ser					FHL3_uc001ccm.3_Missense_Mutation_p.P35S|FHL3_uc009vvl.2_Missense_Mutation_p.P143S	p.P143S	NM_004468	NP_004459	Q13643	FHL3_HUMAN			3	606	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494216	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.86497	-2.13	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	N	0.20401	0.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89068	0.3467	10	0.39692	T	0.17	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	S	143	ENSP00000362107:P143S	ENSP00000362107:P143S	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		A	38463709	G	A	38463709	3	1	16	1	0	0	0	0	1	0	0	0	5880	1203	42	3	427	3	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	30739712	38463709	210786912	4	1062											
PSMA5	5686	broad.mit.edu	37	chr1	109964523	109964523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttgaaataatcttcCttcgggagaaaaagtattca	14	13	6	8	1	2	2	1	1	1	1	5	3	4	2	2	1	0	1	2	1	5	7			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:109964523C>T	ENST00000271308.4	-	2	75	c.55G>A	c.(55-57)Gga>Aga	p.G19R	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Intron	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AATAATCTTCCTTCGGGAGAA	0.348																																						uc001dxn.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(55-57)Gga>Aga		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.							61	57	59					1																	109964523		2203	4299	6502	SO:0001583	missense	5686				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr1:109964523C>T	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"Proteasome (prosome, macropain) subunits"	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.55G>A	1.37:g.109964523C>T	ENSP00000271308:p.Gly19Arg					PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR	p.G19R	NM_002790	NP_001186703	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	1	173	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	19					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	ENST00000271308.4	37	c.55G>A	CCDS799.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968019	0.92855	.	.	ENSG00000143106	ENST00000271308	D	0.83992	-1.79	5.49	5.49	0.81192	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97720	1.0196	9	.	.	.	5.2899	16.2977	0.82784	0.0:1.0:0.0:0.0	.	19	P28066	PSA5_HUMAN	R	19	ENSP00000271308:G19R	.	G	-	1	0	PSMA5	109766046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.381000	0.79718	2.578000	0.87016	0.655000	0.94253	GGA		0.348	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		T	109964523	C	T	109964523	3	4	16	1	0	0	0	0	1	0	0	0	12670	690	24	3	702	3	PSMA5	1	109964523	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	71500814	109964523	139286098	5	1063											
SPAG17	200162	broad.mit.edu	37	chr1	118640437	118640437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaagttttaagctctttTatggcattttctttcttcaa	10	19	5	7	0	4	1	1	0	3	1	4	1	4	1	0	1	1	3	0	1	4	8			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:118640437T>C	ENST00000336338.5	-	7	932	c.867A>G	c.(865-867)atA>atG	p.I289M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	289						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAAGCTCTTTTATGGCATTTT	0.333																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(865-867)atA>atG		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							124	118	120					1																	118640437		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640437T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.867A>G	1.37:g.118640437T>C	ENSP00000337804:p.Ile289Met						p.I289M	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	6	935	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	289					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.867A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014301	0.35511	.	.	ENSG00000155761	ENST00000336338	T	0.50001	0.76	5.2	-10.4	0.00318	.	0.761818	0.12535	N	0.460479	T	0.15609	0.0376	M	0.68317	2.08	0.09310	N	0.999999	B	0.18166	0.026	B	0.21917	0.037	T	0.19976	-1.0289	10	0.52906	T	0.07	.	2.6161	0.04903	0.2256:0.1546:0.4298:0.19	.	289	Q6Q759	SPG17_HUMAN	M	289	ENSP00000337804:I289M	ENSP00000337804:I289M	I	-	3	3	SPAG17	118441960	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	-0.833000	0.04396	-1.352000	0.02194	0.528000	0.53228	ATA		0.333	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		C	118640437	T	C	118640437	3	2	16	1	0	0	0	0	1	0	0	0	14979	1744	61	4	5972	4	SPAG17	1	118640437	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	8675914	118640437	130610184	6	1064											
NBPF10	100132406	broad.mit.edu	37	chr1	145325997	145325997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagggcctgaagtcttgcaAgactcactggatagatgtta	13	10	11	7	0	2	3	1	1	1	2	2	4	2	4	1	2	1	2	1	2	5	3	rs199988926	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G						NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	p.Q1290Q	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	29	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		G	145325997	A	G	145325997	2	3	16	1	0	0	0	0	0	0	0	1	10193	69	3	4		4	NBPF10	1	145325997	Silent	SNP	A	TCGA-06-0132-01A-02D-1491-08	26685560	145325997	103924624	7	1065											
FCRLA	84824	broad.mit.edu	37	chr1	161682911	161682911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcccacattgaatcCagctcctcagaaatcagctg	11	9	6	15	0	2	2	2	1	0	1	5	2	5	2	4	0	3	3	4	0	2	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:161682911C>T	ENST00000236938.6	+	5	1114	c.872C>T	c.(871-873)cCa>cTa	p.P291L	FCRLA_ENST00000294796.4_Missense_Mutation_p.P140L|FCRLA_ENST00000540521.1_Missense_Mutation_p.P157L|FCRLA_ENST00000309691.6_Missense_Mutation_p.P185L|FCRLA_ENST00000367953.3_Missense_Mutation_p.P280L|FCRLA_ENST00000367949.2_Missense_Mutation_p.P107L|FCRLA_ENST00000350710.3_Missense_Mutation_p.P56L|FCRLA_ENST00000540926.1_Missense_Mutation_p.P280L|FCRLA_ENST00000349527.4_Missense_Mutation_p.P179L|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Missense_Mutation_p.P67L|FCRLA_ENST00000367957.2_Missense_Mutation_p.P151L|FCRLA_ENST00000367959.2_Missense_Mutation_p.P297L|FCRLA_ENST00000546024.1_Missense_Mutation_p.P202L	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	274	Pro-rich.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACATTGAATCCAGCTCCTCAG	0.582																																						uc001gbe.3																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(889-891)cCa>cTa		Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.							95	100	98					1																	161682911		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161682911C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.872C>T	1.37:g.161682911C>T	ENSP00000236938:p.Pro291Leu					FCRLA_uc001gbg.3_Missense_Mutation_p.P151L|FCRLA_uc009wup.3_Missense_Mutation_p.P107L|FCRLA_uc009wuq.3_Missense_Mutation_p.P56L|FCRLA_uc001gbd.3_Missense_Mutation_p.P291L|FCRLA_uc001gbf.3_Missense_Mutation_p.P202L|FCRLA_uc009wuo.3_Missense_Mutation_p.P157L	p.P297L	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	1132	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		274			Pro-rich.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.890C>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104588	0.77096	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	0.66;0.66;0.66;0.66;0.66;-0.19;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.23	5.23	0.72850	.	0.261197	0.27600	N	0.018646	T	0.59432	0.2193	L	0.48642	1.525	0.22435	N	0.999106	D;D;D;D;D;D;B	0.76494	0.979;0.999;0.996;0.968;0.998;0.986;0.295	P;D;P;P;D;P;B	0.71184	0.747;0.972;0.865;0.482;0.943;0.722;0.132	T	0.51490	-0.8699	10	0.17369	T	0.5	.	14.1735	0.65525	0.0:1.0:0.0:0.0	.	56;107;157;151;202;297;291	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	L	291;297;202;157;107;56;280;151;179;185;140;280;67	ENSP00000236938:P291L;ENSP00000356936:P297L;ENSP00000439838:P202L;ENSP00000442870:P157L;ENSP00000356926:P107L;ENSP00000344808:P56L;ENSP00000446380:P280L;ENSP00000356934:P151L;ENSP00000294798:P179L;ENSP00000309596:P185L;ENSP00000294796:P140L;ENSP00000356930:P280L;ENSP00000356927:P67L	ENSP00000236938:P291L	P	+	2	0	FCRLA	159949535	0.133000	0.22466	0.574000	0.28523	0.905000	0.53344	1.881000	0.39638	2.716000	0.92895	0.655000	0.94253	CCA		0.582	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		T	161682911	C	T	161682911	3	4	16	1	0	0	0	0	1	0	0	0	5800	594	21	3	912	3	FCRLA	1	161682911	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	16356914	161682911	87567710	8	1066											
CACNA1S	779	broad.mit.edu	37	chr1	201012596	201012596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctctgattggccatgaCggggggcagggagttggtcc	5	9	19	8	1	1	2	0	2	1	0	3	3	2	3	2	7	0	2	2	7	0	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:201012596C>T	ENST00000362061.3	-	40	5087	c.4861G>A	c.(4861-4863)Gtc>Atc	p.V1621I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1602I|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1621					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGGCCATGACGGGGGGCAGG	0.567											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(4861-4863)Gtc>Atc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						79	76	77					1																	201012596		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201012596C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4861G>A	1.37:g.201012596C>T	ENSP00000355192:p.Val1621Ile		OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2118		p.V1621I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			39	5088	-			1621					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4861G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	6.672	0.492460	0.12702	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95853	-3.83;-3.76	5.15	0.583	0.17417	.	1.744740	0.03518	N	0.220548	D	0.89012	0.6594	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.80553	-0.1331	10	0.44086	T	0.13	.	7.6623	0.28410	0.0:0.4458:0.378:0.1762	.	1621	Q13698	CAC1S_HUMAN	I	1621;1602	ENSP00000355192:V1621I;ENSP00000356307:V1602I	ENSP00000355192:V1621I	V	-	1	0	CACNA1S	199279219	0.001000	0.12720	0.006000	0.13384	0.324000	0.28378	0.395000	0.20850	0.564000	0.29238	0.544000	0.68410	GTC		0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201012596	C	T	201012596	3	4	16	1	0	0	0	0	1	0	0	0	2547	536	19	1	780	1	CACNA1S	1	201012596	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	39329685	201012596	48238025	9	1067											
YIPF4	84272	broad.mit.edu	37	chr2	32530586	32530586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttgggctgcctacaGtgctgcttcattgttagtgg	4	17	13	7	0	1	0	1	0	0	0	1	0	1	0	1	2	4	5	1	2	2	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:32530586G>A	ENST00000238831.4	+	6	872	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	209						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCTGCCTACAGTGCTGCTTCA	0.323																																						uc002rok.3																			0				kidney(2)|lung(3)|prostate(3)|skin(1)	9						c.(625-627)aGt>aAt		Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.							100	102	101					2																	32530586		2203	4300	6503	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32530586G>A	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"Yip1 domain family"	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.626G>A	2.37:g.32530586G>A	ENSP00000238831:p.Ser209Asn						p.S209N	NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN			5	893	+	Acute lymphoblastic leukemia(172;0.155)		209						Missense_Mutation	SNP	ENST00000238831.4	37	c.626G>A	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622004	0.87460	.	.	ENSG00000119820	ENST00000238831	T	0.43688	0.94	5.86	5.86	0.93980	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.83603	2.65	0.80722	D	1	D	0.59357	0.985	D	0.69824	0.966	T	0.71925	-0.4445	10	0.87932	D	0	.	18.3664	0.90392	0.0:0.0:1.0:0.0	.	209	Q9BSR8	YIPF4_HUMAN	N	209	ENSP00000238831:S209N	ENSP00000238831:S209N	S	+	2	0	YIPF4	32384090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.777000	0.95525	0.591000	0.81541	AGT		0.323	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		A	32530586	G	A	32530586	3	1	16	1	0	0	0	0	1	0	0	0	17477	1029	36	3	648	3	YIPF4	2	32530586	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08		32530586	210668787	10	1068											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315741	73315741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctcccattgacacagagCgaagagcgggaggcagcatc	11	5	14	11	2	0	3	0	1	0	2	2	5	1	4	1	3	3	3	1	3	1	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:73315741C>T	ENST00000258098.6	-	3	1245	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	335					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGACACAGAGCGAAGAGCGGG	0.622																																						uc002siu.4																			0		p.S334F(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1003-1005)tcG>tcA		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							20	23	22					2																	73315741		2203	4299	6502	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315741C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1005G>A	2.37:g.73315741C>T						RAB11FIP5_uc002sit.4_Silent_p.S257S	p.S335S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	1246	-			335					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.1005G>A	CCDS1923.1																																																																																				0.622	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		T	73315741	C	T	73315741	2	4	16	1	0	0	0	0	0	0	0	1	12897	755	27	1		1	RAB11FIP5	2	73315741	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	40785155	73315741	169883632	11	1069											
LCT	3938	broad.mit.edu	37	chr2	136566075	136566075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtatcctccgtgttcGgattggtcagccccactccg	6	12	9	14	3	2	0	2	0	0	0	6	1	5	1	5	2	1	2	5	2	2	4	rs200491872		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:136566075G>A	ENST00000264162.2	-	8	3852	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1281	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCGTGTTCGGATTGGTCAG	0.493													G|||	1	0.000199681	0	0	5008	,	,		21877	0.001		0	False		,,,				2504	0					uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3841-3843)cCg>cTg		Homo sapiens lactase (LCT), mRNA.							231	205	214					2																	136566075		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566075G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3842C>T	2.37:g.136566075G>A	ENSP00000264162:p.Pro1281Leu						p.P1281L	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3853	-			1281			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3842C>T	CCDS2178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.453	-0.893043	0.02491	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.31769	1.48	5.9	5.01	0.66863	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.380470	0.03913	N	0.282227	T	0.30665	0.0772	N	0.16708	0.43	0.09310	N	0.999999	B	0.29270	0.24	B	0.33568	0.166	T	0.49688	-0.8913	10	0.46703	T	0.11	-5.8285	16.3313	0.83015	0.0:0.0:0.8667:0.1333	.	1281	P09848	LPH_HUMAN	L	1281;713	ENSP00000264162:P1281L	ENSP00000264162:P1281L	P	-	2	0	LCT	136282545	0.762000	0.28451	0.003000	0.11579	0.003000	0.03518	4.274000	0.58921	1.457000	0.47850	0.563000	0.77884	CCG		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136566075	G	A	136566075	3	1	16	1	0	0	0	0	1	0	0	0	8693	1116	39	2	1981	2	LCT	2	136566075	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	63250334	136566075	106633298	12	1070											
MBD5	55777	broad.mit.edu	37	chr2	149248058	149248058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggacgttcaatgttggCgacttggtctggggccaaat	9	10	13	9	2	2	0	1	0	1	0	2	2	2	1	2	5	0	2	2	5	3	3	rs543329958		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:149248058C>T	ENST00000407073.1	+	12	5155	c.4158C>T	c.(4156-4158)ggC>ggT	p.G1386G	MBD5_ENST00000404807.1_Silent_p.G1619G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1386	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G1386G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAATGTTGGCGACTTGGTCT	0.448													C|||	1	0.000199681	0	0	5008	,	,		18682	0.001		0	False		,,,				2504	0					uc002twm.4																			1	Substitution - coding silent(1)	p.G1386G(2)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(4156-4158)ggC>ggT		Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.							77	77	77					2																	149248058		2203	4300	6503	SO:0001819	synonymous_variant	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248058C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4158C>T	2.37:g.149248058C>T						MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.G644G|MBD5_uc002twp.3_Silent_p.G436G	p.G1386G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	5155	+			1386			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.4158C>T	CCDS33302.1																																																																																				0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			T	149248058	C	T	149248058	2	4	16	1	0	0	0	0	0	0	0	1	9347	755	27	1		1	MBD5	2	149248058	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	12681983	149248058	93951315	13	1071											
SCN3A	6328	broad.mit.edu	37	chr2	166019113	166019113	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatgtgctcattgttacaTtaacaaatgtcccatttgaa	14	15	5	7	0	1	1	1	1	0	0	2	1	2	1	1	0	3	2	1	0	6	5			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:166019113T>A	ENST00000360093.3	-	8	1411	c.920A>T	c.(919-921)aAt>aTt	p.N307I	SCN3A_ENST00000409101.3_Missense_Mutation_p.N307I|SCN3A_ENST00000283254.7_Missense_Mutation_p.N307I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	307					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTGTTACATTAACAAATGT	0.363																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(919-921)aAt>aTt		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						122	124	123					2																	166019113		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019113T>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.920A>T	2.37:g.166019113T>A	ENSP00000353206:p.Asn307Ile					SCN3A_uc002ucy.3_Missense_Mutation_p.N307I|SCN3A_uc002ucz.3_Missense_Mutation_p.N307I|SCN3A_uc002uda.1_Missense_Mutation_p.N176I|SCN3A_uc002udb.1_Missense_Mutation_p.N176I	p.N307I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			7	1412	-			307					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.920A>T		.	.	.	.	.	.	.	.	.	.	T	14.87	2.665324	0.47677	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96716	-4.1;-4.09;-4.04;-3.89	5.82	5.82	0.92795	Ion transport (1);	0.000000	0.56097	D	0.000040	D	0.97185	0.9080	L	0.54965	1.715	0.80722	D	1	D;B;B;B;D	0.76494	0.999;0.014;0.004;0.0;0.999	D;B;B;B;D	0.87578	0.998;0.007;0.02;0.005;0.996	D	0.96257	0.9188	10	0.22706	T	0.39	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	307;307;307;307;307	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	307	ENSP00000353206:N307I;ENSP00000283254:N307I;ENSP00000386726:N307I;ENSP00000403348:N307I	ENSP00000283254:N307I	N	-	2	0	SCN3A	165727359	1.000000	0.71417	0.894000	0.35097	0.917000	0.54804	3.670000	0.54569	2.222000	0.72286	0.533000	0.62120	AAT		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	166019113	T	A	166019113	3	1	16	1	0	0	0	0	1	0	0	0	13918	1493	52	5	5166	5	SCN3A	2	166019113	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	16771055	166019113	77180260	14	1072											
SCN9A	6335	broad.mit.edu	37	chr2	167055670	167055670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accactaaccatgggcagatCcatggcaatgagctggactt	12	8	10	11	0	0	2	0	1	0	1	1	3	1	3	3	3	2	3	3	3	2	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:167055670C>A	ENST00000409435.1	-	26	5478	c.5479G>T	c.(5479-5481)Gat>Tat	p.D1827Y	SCN9A_ENST00000375387.4_Missense_Mutation_p.D1828Y|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1816Y|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1828Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1827					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGCAGATCCATGGCAATG	0.463																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5446-5448)Gat>Tat		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						121	123	122					2																	167055670		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055670C>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5479G>T	2.37:g.167055670C>A	ENSP00000386330:p.Asp1827Tyr					BC051759_uc002udp.3_Intron	p.D1816Y	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	5787	-			1827					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5446G>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060459	0.76074	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97066	-4.2;-4.23;-4.23;-4.23	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000003	D	0.99013	0.9663	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99167	1.0863	10	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	1816	E7EUN6	.	Y	1816;1828;1828;1827	ENSP00000386306:D1816Y;ENSP00000364536:D1828Y;ENSP00000304748:D1828Y;ENSP00000386330:D1827Y	ENSP00000304748:D1828Y	D	-	1	0	SCN9A	166763916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GAT		0.463	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167055670	C	A	167055670	3	1	16	1	0	0	0	0	1	0	0	0	13925	855	30	5	491	5	SCN9A	2	167055670	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	1036557	167055670	76143703	15	1073											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693302	187693302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaggtaaaattccaagTctattttgttttaagactaa	14	16	6	5	0	1	1	0	0	1	1	2	1	2	1	1	1	1	3	1	1	7	9			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:187693302T>C	ENST00000295131.2	-	9	1350	c.1311A>G	c.(1309-1311)agA>agG	p.R437R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	437					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATTCCAAGTCTATTTTGTT	0.328																																						uc002upu.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1309-1311)agA>agG		Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.							63	69	67					2																	187693302		2202	4299	6501	SO:0001819	synonymous_variant	151112				apoptosis		zinc ion binding	g.chr2:187693302T>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1311A>G	2.37:g.187693302T>C							p.R437R	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1351	-			437					B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	c.1311A>G	CCDS33348.1																																																																																				0.328	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		C	187693302	T	C	187693302	2	2	16	1	0	0	0	0	0	0	0	1	18238	1664	58	4		4	ZSWIM2	2	187693302	Silent	SNP	T	TCGA-06-0132-01A-02D-1491-08	20637632	187693302	55506071	16	1074											
ANO7	50636	broad.mit.edu	37	chr2	242151595	242151595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttctactcctcacccGtctacattgccttcttcaag	8	14	3	16	1	6	0	3	0	3	0	7	0	7	0	3	0	4	0	3	0	4	6	rs111600763	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:242151595G>A	ENST00000274979.8	+	16	1913	c.1810G>A	c.(1810-1812)Gtc>Atc	p.V604I	ANO7_ENST00000402430.3_Missense_Mutation_p.V603I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	604					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTCCTCACCCGTCTACATTGC	0.562													G|||	26	0.00519169	0.0197	0	5008	,	,		21817	0		0	False		,,,				2504	0					uc002wax.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1810-1812)Gtc>Atc		Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.		G	ILE/VAL	91,4315	76.8+/-115.0	0,91,2112	169	134	146		1810	-6.8	0	2	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANO7	NM_001001891.3	29	0,92,6411	AA,AG,GG		0.0116,2.0654,0.7074	benign	604/934	242151595	92,12914	2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242151595G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1810G>A	2.37:g.242151595G>A	ENSP00000274979:p.Val604Ile						p.V604I	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			15	1913	+			604					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1810G>A	CCDS33423.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	8.406	0.842986	0.16963	0.020654	1.16E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62639	0.01;0.01	3.87	-6.79	0.01715	.	0.730454	0.12807	N	0.437473	T	0.12433	0.0302	N	0.01874	-0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.15407	-1.0438	10	0.25106	T	0.35	.	5.1511	0.15009	0.2335:0.0:0.403:0.3635	.	604	Q6IWH7	ANO7_HUMAN	I	604;603	ENSP00000274979:V604I;ENSP00000385418:V603I	ENSP00000274979:V604I	V	+	1	0	ANO7	241800268	0.014000	0.17966	0.009000	0.14445	0.874000	0.50279	0.029000	0.13666	-0.926000	0.03770	-0.839000	0.03059	GTC		0.562	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242151595	G	A	242151595	3	1	16	1	0	0	0	0	1	0	0	0	702	1145	40	1	1944	1	ANO7	2	242151595	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	54458293	242151595	1047778	17	1075											
CHL1	10752	broad.mit.edu	37	chr3	383663	383663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctatacttcgcaaacGtggaagaaaaggacagtcgc	15	7	11	8	3	1	2	0	0	1	2	3	5	1	4	0	2	2	1	0	2	6	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:383663G>A	ENST00000256509.2	+	7	1219	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	CHL1_ENST00000397491.2_Missense_Mutation_p.V193M	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTCGCAAACGTGGAAGAAAA	0.383																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(577-579)Gtg>Atg		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							95	89	91					3																	383663		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:383663G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.577G>A	3.37:g.383663G>A	ENSP00000256509:p.Val193Met					CHL1_uc003bou.3_Missense_Mutation_p.V193M|CHL1_uc003bow.2_Missense_Mutation_p.V193M|CHL1_uc011asi.2_Missense_Mutation_p.V193M	p.V193M	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	6	1219	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	193			Ig-like C2-type 2.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.577G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460372	0.84317	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.51325	0.71;0.71	5.43	5.43	0.79202	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130119	0.52532	D	0.000076	T	0.72875	0.3515	M	0.86097	2.795	0.48762	D	0.999701	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.995;0.983	T	0.77138	-0.2698	10	0.87932	D	0	.	17.7511	0.88434	0.0:0.0:1.0:0.0	.	193;193;193	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	M	193	ENSP00000256509:V193M;ENSP00000380628:V193M	ENSP00000256509:V193M	V	+	1	0	CHL1	358663	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	6.953000	0.75995	2.696000	0.92011	0.591000	0.81541	GTG		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		A	383663	G	A	383663	3	1	16	1	0	0	0	0	1	0	0	0	3349	1145	40	1	595	1	CHL1	3	383663	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08		383663	197638767	18	1076											
ZBTB20	26137	broad.mit.edu	37	chr3	114069362	114069362	+	Frame_Shift_Del	DEL	G	G	-																															aggctgaagaggaaaggcttGgggccactgcccgcgggctg																								rs201414136		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:114069362delG	ENST00000474710.1	-	4	1741	c.1563delC	c.(1561-1563)cccfs	p.P521fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P448fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P448fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P448fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	521						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.3																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1561-1563)cccfs		Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.							49	52	51					3																	114069362		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069362delG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1563delC	3.37:g.114069362delG	ENSP00000419153:p.Pro521fs					ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_uc003ebo.2_5'Flank	p.P521fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	3	1743	-			521					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1563delC	CCDS54626.1																																																																																				0.627	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		-	114069362	G	-	114069362	7	5	16	1	0	1	0	1	0	0	0	0	17526	1335	47	0	670	0	ZBTB20	3	114069362	Frame_Shift_Del	DEL	G	TCGA-06-0132-01A-02D-1491-08	113685699	114069362	83953068	19	1077											
SPOCK3	50859	broad.mit.edu	37	chr4	167656159	167656159	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcatcttcatcattcatAatatcgtcttcatcatcctc	10	18	1	12	1	8	0	6	0	2	0	11	0	9	0	1	0	0	0	1	0	2	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr4:167656159A>G	ENST00000357154.3	-	12	1361	c.1224T>C	c.(1222-1224)atT>atC	p.I408I	SPOCK3_ENST00000510741.1_Silent_p.I365I|SPOCK3_ENST00000511531.1_Silent_p.I408I|SPOCK3_ENST00000357545.4_Silent_p.I405I|SPOCK3_ENST00000504953.1_Silent_p.I405I|SPOCK3_ENST00000506886.1_Silent_p.I408I|SPOCK3_ENST00000502330.1_Silent_p.I408I|SPOCK3_ENST00000421836.2_Silent_p.I357I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000534949.1_Silent_p.I312I|SPOCK3_ENST00000541354.1_Silent_p.I288I|SPOCK3_ENST00000512681.1_Silent_p.I310I|SPOCK3_ENST00000541637.1_Silent_p.I310I|SPOCK3_ENST00000535728.1_Silent_p.I276I|SPOCK3_ENST00000511269.1_Silent_p.I405I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	408	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		catcattcataatatcgtctt	0.363																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(1249-1251)atT>atC		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							194	181	185					4																	167656159		2203	4299	6502	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656159A>G	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1224T>C	4.37:g.167656159A>G						SPOCK3_uc021xuf.1_Silent_p.I408I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003iri.1_Silent_p.I408I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cjp.2_Silent_p.I365I|SPOCK3_uc011cju.1_Silent_p.I312I|SPOCK3_uc011cjv.1_Silent_p.I310I	p.I417I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	9	1308	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	408			Asp-rich.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.1251T>C	CCDS54817.1																																																																																				0.363	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			G	167656159	A	G	167656159	2	3	16	1	0	0	0	0	0	0	0	1	15080	358	13	4		4	SPOCK3	4	167656159	Silent	SNP	A	TCGA-06-0132-01A-02D-1491-08		167656159	23498117	20	1078											
FSTL4	23105	broad.mit.edu	37	chr5	132556518	132556518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggatgacgatgataccGtcgtcggagaagacatagaa	14	7	14	6	4	0	5	0	2	0	3	2	9	0	7	1	3	1	0	1	3	4	2	rs141735817	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:132556518G>A	ENST00000265342.7	-	12	1629	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CTB-49A3.2_ENST00000509051.1_RNA|FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	460						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATGATACCGTCGTCGGAGA	0.547																																						uc003kyn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1378-1380)gaC>gaT		Homo sapiens follistatin-like 4 (FSTL4), mRNA.		G		0,4406		0,0,2203	141	126	131		1380	-2.2	0.1	5	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FSTL4	NM_015082.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		460/843	132556518	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132556518G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1380C>T	5.37:g.132556518G>A						FSTL4_uc003kym.1_Silent_p.D109D	p.D460D	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1598	-		all_cancers(142;0.244)	460					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1380C>T	CCDS34238.1																																																																																				0.547	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132556518	G	A	132556518	2	1	16	1	0	0	0	0	0	0	0	1	6079	1136	40	1		1	FSTL4	5	132556518	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		132556518	48358742	21	1079											
PCDHA9	9752	broad.mit.edu	37	chr5	140229589	140229589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggttgggcgagcgctcGctgtcgagctacgtgtcagt	4	9	17	11	7	1	0	1	0	0	0	3	2	1	0	0	3	3	4	0	3	1	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:140229589G>A	ENST00000532602.1	+	1	2542	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S503S|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S503S(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCTCGCTGTCGAGCT	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - coding silent(2)	p.S503S(2)	breast(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1507-1509)tcG>tcA		Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.							61	67	65					5																	140229589		2196	4271	6467	SO:0001819	synonymous_variant	9752				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140229589G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1509G>A	5.37:g.140229589G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S503S	p.S503S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2233	+			517			Cadherin 5.		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1509G>A	CCDS54920.1																																																																																				0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140229589	G	A	140229589	2	1	16	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA9	5	140229589	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08	7673071	140229589	40685671	22	1080											
LAMB1	3912	broad.mit.edu	37	chr7	107591684	107591684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacctcggcactccacGtcggggtctccccagaagag	9	6	10	16	3	2	2	1	0	1	2	6	2	3	2	4	3	1	1	4	3	2	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr7:107591684G>A	ENST00000222399.6	-	24	3608	c.3378C>T	c.(3376-3378)gaC>gaT	p.D1126D	LAMB1_ENST00000393561.1_Silent_p.D1150D	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1126	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCACTCCACGTCGGGGTCTC	0.572																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3448-3450)gaC>gaT		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						51	48	49					7																	107591684		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107591684G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3378C>T	7.37:g.107591684G>A						LAMB1_uc003vew.2_Silent_p.D1126D	p.D1150D	NM_002291	NP_002282	P07942	LAMB1_HUMAN			21	3611	-			1126			Laminin EGF-like 13.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3450C>T	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107591684	G	A	107591684	2	1	16	1	0	0	0	0	0	0	0	1	8610	1136	40	1		1	LAMB1	7	107591684	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		107591684	51546979	23	1081											
SGK223	157285	broad.mit.edu	37	chr8	8175745	8175745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagacgccaggtactggcaGcaaagccagtcctccagctc	10	5	11	15	1	0	1	0	0	0	1	3	1	2	1	4	2	4	5	4	2	2	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr8:8175745G>A	ENST00000520004.1	-	6	4404	c.4140C>T	c.(4138-4140)tgC>tgT	p.C1380C	SGK223_ENST00000330777.4_Silent_p.C1380C			Q86YV5	SG223_HUMAN		1384							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTACTGGCAGCAAAGCCAGT	0.642																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(4138-4140)tgC>tgT		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							51	63	59					8																	8175745		2101	4206	6307	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175745G>A																												ENST00000520004.1:c.4140C>T	8.37:g.8175745G>A							p.C1380C	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	4140	-			1380					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.4140C>T	CCDS43706.1																																																																																				0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8175745	G	A	8175745	2	1	16	1	0	0	0	0	0	0	0	1	14210	963	34	3		3	SGK223	8	8175745	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		8175745	138188277	24	1082											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555697	71555697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacgacaggcctacactctAttcaaacaggtaatacttag	15	9	6	11	1	2	0	1	0	1	0	2	1	2	0	1	2	3	1	1	2	6	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:71555697A>C	ENST00000265382.3	+	14	1798	c.1493A>C	c.(1492-1494)tAt>tCt	p.Y498S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.Y498S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	498					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCTACACTCTATTCAAACAGG	0.443																																						uc004agu.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1492-1494)tAt>tCt		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.							232	192	206					9																	71555697		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555697A>C	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1493A>C	9.37:g.71555697A>C	ENSP00000265382:p.Tyr498Ser					PIP5K1B_uc011lrq.2_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.3_Non-coding_Transcript	p.Y498S	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	13	1798	+			498					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1493A>C	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621742	0.28889	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27402	1.67;1.76	5.78	2.07	0.26955	.	0.611534	0.16592	N	0.207721	T	0.20861	0.0502	L	0.47716	1.5	0.31266	N	0.692345	B	0.12013	0.005	B	0.06405	0.002	T	0.35101	-0.9802	10	0.08381	T	0.77	-14.5121	7.0067	0.24840	0.7431:0.1253:0.1316:0.0	.	498	O14986	PI51B_HUMAN	S	498;498;498;445	ENSP00000438082:Y498S;ENSP00000265382:Y498S	ENSP00000265382:Y498S	Y	+	2	0	PIP5K1B	70745517	1.000000	0.71417	0.854000	0.33618	0.585000	0.36419	3.401000	0.52601	0.102000	0.17638	-0.274000	0.10170	TAT		0.443	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		C	71555697	A	C	71555697	3	2	16	1	0	0	0	0	1	0	0	0	11940	449	16	5	1535	5	PIP5K1B	9	71555697	Missense_Mutation	SNP	A	TCGA-06-0132-01A-02D-1491-08		71555697	69657734	25	1083											
SUSD1	64420	broad.mit.edu	37	chr9	114840947	114840947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggctgctgctactgatatTaaaggtcatttcctgggcaa	9	13	10	9	1	1	1	1	1	0	0	3	1	2	1	1	3	3	4	1	3	5	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:114840947T>C	ENST00000374270.3	-	12	1796	c.1624A>G	c.(1624-1626)Aat>Gat	p.N542D	SUSD1_ENST00000374263.3_Missense_Mutation_p.N542D|SUSD1_ENST00000374264.2_Missense_Mutation_p.N542D	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	542						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGATATTAAAGGTCATT	0.488																																						uc010mui.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1624-1626)Aat>Gat		Homo sapiens sushi domain containing 1 (SUSD1), mRNA.							136	135	135					9																	114840947		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840947T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1624A>G	9.37:g.114840947T>C	ENSP00000363388:p.Asn542Asp					MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.N542D|SUSD1_uc010muj.3_Missense_Mutation_p.N542D	p.N542D			Q6UWL2	SUSD1_HUMAN			11	1665	-			542					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1624A>G	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	t	14.09	2.431040	0.43122	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.29142	1.58;1.58;1.58	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000096	T	0.50188	0.1601	M	0.65975	2.015	0.36334	D	0.859068	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.56360	-0.7992	10	0.27785	T	0.31	-26.8097	11.6038	0.51020	0.0:0.0:0.0:1.0	.	542;542;542	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	D	542	ENSP00000363388:N542D;ENSP00000363381:N542D;ENSP00000363382:N542D	ENSP00000363381:N542D	N	-	1	0	SUSD1	113880768	1.000000	0.71417	0.949000	0.38748	0.339000	0.28857	4.268000	0.58883	2.051000	0.60960	0.524000	0.50904	AAT		0.488	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		C	114840947	T	C	114840947	3	2	16	1	0	0	0	0	1	0	0	0	15404	1754	61	4	643	4	SUSD1	9	114840947	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	43285250	114840947	26372484	26	1084											
ABCG4	64137	broad.mit.edu	37	chr11	119031668	119031668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttagaggaacgctgccCgttccgggagccacagagca	10	7	13	11	3	0	2	0	0	0	2	1	4	1	4	3	2	4	4	3	2	2	3	rs571213849		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr11:119031668C>T	ENST00000449422.2	+	15	1981	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	ABCG4_ENST00000531739.1_Missense_Mutation_p.P598L|ABCG4_ENST00000307417.3_Missense_Mutation_p.P598L	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	598	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAACGCTGCCCGTTCCGGGAG	0.567													C|||	1	0.000199681	0	0	5008	,	,		20229	0.001		0	False		,,,				2504	0					uc001pvs.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1792-1794)cCg>cTg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.							103	91	95					11																	119031668		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031668C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1793C>T	11.37:g.119031668C>T	ENSP00000406874:p.Pro598Leu					ABCG4_uc009zar.3_Missense_Mutation_p.P598L	p.P598L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	14	2129	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	598			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1793C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947541	0.34377	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.41065	1.01;1.01;1.01	5.55	3.6	0.41247	.	0.220206	0.47093	D	0.000254	T	0.32255	0.0823	L	0.31752	0.955	0.49582	D	0.999808	B	0.06786	0.001	B	0.04013	0.001	T	0.04767	-1.0928	10	0.39692	T	0.17	-9.5824	14.4413	0.67321	0.269:0.731:0.0:0.0	.	598	Q9H172	ABCG4_HUMAN	L	598	ENSP00000304111:P598L;ENSP00000406874:P598L;ENSP00000434318:P598L	ENSP00000304111:P598L	P	+	2	0	ABCG4	118536878	0.977000	0.34250	0.305000	0.25099	0.633000	0.38033	2.551000	0.45820	0.643000	0.30638	0.655000	0.94253	CCG		0.567	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119031668	C	T	119031668	3	4	16	1	0	0	0	0	1	0	0	0	70	652	23	2	1847	2	ABCG4	11	119031668	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		119031668	15974848	27	1085											
TSPAN9	10867	broad.mit.edu	37	chr12	3387673	3387673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcccccagcttcccttcGttgtctgcagccaacctggt	4	13	7	17	1	2	0	0	0	2	0	5	0	3	0	5	1	4	3	5	1	1	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:3387673G>A	ENST00000011898.5	+	4	311	c.150G>A	c.(148-150)tcG>tcA	p.S50S	TSPAN9_ENST00000407263.1_Silent_p.S50S|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.S50S	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	50						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCTTCCCTTCGTTGTCTGCAG	0.597																																						uc001qlp.3																			0		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(148-150)tcG>tcA		Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.							176	155	162					12																	3387673		2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3387673G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.150G>A	12.37:g.3387673G>A						TSPAN9_uc021qtd.1_Silent_p.S50S	p.S50S	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		3	333	+			50					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.150G>A	CCDS8520.1																																																																																				0.597	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		A	3387673	G	A	3387673	2	1	16	1	0	0	0	0	0	0	0	1	16651	1132	40	1		1	TSPAN9	12	3387673	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		3387673	130464222	28	1086											
OR9K2	441639	broad.mit.edu	37	chr12	55524385	55524385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttgtgagtgtgctgtatgGtgctgtcttttttatgtatc	5	20	12	4	0	1	1	0	1	1	0	2	1	1	1	0	1	2	5	0	1	3	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:55524385G>A	ENST00000305377.5	+	1	921	c.833G>A	c.(832-834)gGt>gAt	p.G278D		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GTGCTGTATGGTGCTGTCTTT	0.443																																						uc010spe.2																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(832-834)gGt>gAt		Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.							201	180	187					12																	55524385		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524385G>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.833G>A	12.37:g.55524385G>A	ENSP00000307598:p.Gly278Asp						p.G278D	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			0	833	+			278					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.833G>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955276	0.73902	.	.	ENSG00000170605	ENST00000305377	T	0.39229	1.09	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000060	T	0.79828	0.4513	H	0.98918	4.37	0.40147	D	0.976907	D	0.89917	1.0	D	0.85130	0.997	D	0.88492	0.3076	10	0.87932	D	0	-12.3305	18.4253	0.90607	0.0:0.0:1.0:0.0	.	278	Q8NGE7	OR9K2_HUMAN	D	278	ENSP00000307598:G278D	ENSP00000307598:G278D	G	+	2	0	OR9K2	53810652	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	0.814000	0.27239	2.753000	0.94483	0.650000	0.86243	GGT		0.443	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			A	55524385	G	A	55524385	3	1	16	1	0	0	0	0	1	0	0	0	11254	1261	44	3	835	3	OR9K2	12	55524385	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	52136712	55524385	78327510	29	1087											
APOF	319	broad.mit.edu	37	chr12	56755194	56755194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggctgagagatgtttgCgtctttctgatcttggtaat	6	16	11	8	2	3	3	0	2	3	1	4	4	4	3	1	2	1	3	1	2	1	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:56755194C>T	ENST00000398189.3	-	2	873	c.796G>A	c.(796-798)Gca>Aca	p.A266T	STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.A248T|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	266					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GAGATGTTTGCGTCTTTCTGA	0.493																																						uc001sle.1																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(796-798)Gca>Aca		Homo sapiens apolipoprotein F (APOF), mRNA.							107	107	107					12																	56755194		1973	4154	6127	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755194C>T	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.796G>A	12.37:g.56755194C>T	ENSP00000381250:p.Ala266Thr						p.A266T	NM_001638	NP_001629	Q13790	APOF_HUMAN			1	850	-			266					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.796G>A	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976432	0.34848	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.48201	0.82;0.83	5.21	1.17	0.20885	.	0.441905	0.16863	N	0.196452	T	0.29556	0.0737	L	0.40543	1.245	0.09310	N	1	B	0.27971	0.196	B	0.14578	0.011	T	0.15954	-1.0419	10	0.45353	T	0.12	-1.6181	2.1926	0.03903	0.156:0.5103:0.1514:0.1822	.	266	Q13790	APOF_HUMAN	T	266;248	ENSP00000381250:A266T;ENSP00000440997:A248T	ENSP00000381250:A266T	A	-	1	0	APOF	55041461	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.467000	0.22035	0.120000	0.18254	0.655000	0.94253	GCA		0.493	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			T	56755194	C	T	56755194	3	4	16	1	0	0	0	0	1	0	0	0	803	768	27	1	188	1	APOF	12	56755194	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	1230809	56755194	77096701	30	1088											
FOXN4	121643	broad.mit.edu	37	chr12	109719238	109719238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaagtccatgatgctcGggtcgagggcatccacctca	9	7	13	12	3	1	1	1	1	0	0	5	4	3	1	3	2	2	2	3	2	1	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:109719238G>A	ENST00000299162.5	-	9	1372	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P243L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	423					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CATGATGCTCGGGTCGAGGGC	0.627																																						uc001toe.4																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1267-1269)cCg>cTg		Homo sapiens forkhead box N4 (FOXN4), mRNA.							75	73	74					12																	109719238		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719238G>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1268C>T	12.37:g.109719238G>A	ENSP00000299162:p.Pro423Leu					FOXN4_uc009zvg.3_Missense_Mutation_p.P220L|FOXN4_uc001tof.4_Missense_Mutation_p.P243L	p.P423L	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	1373	-			423					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1268C>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399860	0.83120	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.97642	-4.47;-4.39	5.3	4.34	0.51931	.	0.280432	0.35179	N	0.003395	D	0.98207	0.9407	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98438	1.0585	10	0.87932	D	0	-24.8657	14.1654	0.65473	0.0:0.0:0.8499:0.1501	.	423;423	A6H901;Q96NZ1	.;FOXN4_HUMAN	L	243;423	ENSP00000347354:P243L;ENSP00000299162:P423L	ENSP00000299162:P423L	P	-	2	0	FOXN4	108203621	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.424000	0.80242	2.644000	0.89710	0.561000	0.74099	CCG		0.627	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		A	109719238	G	A	109719238	3	1	16	1	0	0	0	0	1	0	0	0	6022	1116	39	2	293	2	FOXN4	12	109719238	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	52964044	109719238	24132657	31	1089											
SERPINA12	145264	broad.mit.edu	37	chr14	94953819	94953819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcatccatcttcagctcagCcttgtgcacagcctacggaa	9	10	7	15	1	4	0	3	0	1	0	5	1	5	1	3	1	5	2	3	1	2	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr14:94953819C>T	ENST00000341228.2	-	6	1861	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A356T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	356					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTCAGCTCAGCCTTGTGCACA	0.597																																						uc001ydj.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1066-1068)Gct>Act		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.							77	62	67					14																	94953819		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94953819C>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1066G>A	14.37:g.94953819C>T	ENSP00000342109:p.Ala356Thr						p.A356T	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	5	1862	-			356						Missense_Mutation	SNP	ENST00000341228.2	37	c.1066G>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055106	0.93793	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.86562	-2.14;-2.14	5.6	5.6	0.85130	Serpin domain (3);	0.000000	0.53938	D	0.000043	D	0.93772	0.8009	M	0.82193	2.58	0.48452	D	0.999658	D	0.65815	0.995	D	0.70935	0.971	D	0.94341	0.7570	10	0.87932	D	0	.	17.368	0.87368	0.0:1.0:0.0:0.0	.	356	Q8IW75	SPA12_HUMAN	T	356	ENSP00000451738:A356T;ENSP00000342109:A356T	ENSP00000342109:A356T	A	-	1	0	SERPINA12	94023572	1.000000	0.71417	0.995000	0.50966	0.869000	0.49853	5.391000	0.66266	2.625000	0.88918	0.561000	0.74099	GCT		0.597	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		T	94953819	C	T	94953819	3	4	16	1	0	0	0	0	1	0	0	0	14089	739	26	3	182	3	SERPINA12	14	94953819	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		94953819	12395721	32	1090											
PEPD	5184	broad.mit.edu	37	chr19	33892682	33892682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcactgcctcatagacGgccttctggtctgcagtgaa	8	9	11	13	2	3	2	1	1	2	1	3	2	3	2	2	2	3	3	2	2	2	2	rs199621901		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:33892682G>A	ENST00000244137.7	-	12	945	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PEPD_ENST00000436370.3_Silent_p.A240A|PEPD_ENST00000397032.4_Silent_p.A263A	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	304					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCATAGACGGCCTTCTGGT	0.627																																						uc002nur.4																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(910-912)gcC>gcT		Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.		G	,,	0,4240		0,0,2120	56	65	62		912,789,720	2.2	1	19		62	1,8469		0,1,4234	no	coding-synonymous,coding-synonymous,coding-synonymous	PEPD	NM_000285.3,NM_001166056.1,NM_001166057.1	,,	0,1,6354	AA,AG,GG		0.0118,0.0,0.0079	,,	304/494,263/453,240/430	33892682	1,12709	2120	4235	6355	SO:0001819	synonymous_variant	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33892682G>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.912C>T	19.37:g.33892682G>A						PEPD_uc010xrs.2_Silent_p.A240A|PEPD_uc010xrr.2_Silent_p.A263A	p.A304A	NM_000285	NP_000276	P12955	PEPD_HUMAN			11	1045	-	Esophageal squamous(110;0.137)		304					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	c.912C>T	CCDS42544.1																																																																																				0.627	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		A	33892682	G	A	33892682	2	1	16	1	0	0	0	0	0	0	0	1	11728	1103	39	2		2	PEPD	19	33892682	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		33892682	25236301	33	1091											
NLRP12	91662	broad.mit.edu	37	chr19	54313742	54313742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggctcgttgtccctcaCgtaattgaagacttggcccg	8	10	12	11	3	1	3	1	1	0	2	3	4	2	3	2	2	0	3	2	2	2	4	rs199512582		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:54313742C>T	ENST00000324134.6	-	3	1339	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	NLRP12_ENST00000535162.1_Missense_Mutation_p.V391M|NLRP12_ENST00000391772.1_Missense_Mutation_p.V391M|NLRP12_ENST00000351894.4_Missense_Mutation_p.V391M|NLRP12_ENST00000391773.1_Missense_Mutation_p.V391M|NLRP12_ENST00000345770.5_Missense_Mutation_p.V391M|NLRP12_ENST00000391775.3_Missense_Mutation_p.V391M|NLRP12_ENST00000354278.3_Missense_Mutation_p.V391M	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	391	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTCCCTCACGTAATTGAAG	0.562																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1171-1173)Gtg>Atg		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							181	177	179					19																	54313742		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313742C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1171G>A	19.37:g.54313742C>T	ENSP00000319377:p.Val391Met					NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.V391M|NLRP12_uc002qci.4_Missense_Mutation_p.V391M|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.V391M	p.V391M	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	1391	-	Ovarian(34;0.19)		391			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1171G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643069	0.29246	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.64	-2.31	0.06765	NACHT nucleoside triphosphatase (1);	0.803834	0.10442	N	0.674179	T	0.69522	0.3120	L	0.49571	1.57	0.39920	D	0.974145	P;P;P;P	0.43938	0.822;0.714;0.822;0.76	B;B;B;B	0.27076	0.074;0.051;0.074;0.076	T	0.62383	-0.6866	10	0.31617	T	0.26	.	2.2377	0.04012	0.1396:0.4134:0.2722:0.1748	.	391;391;391;391	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	M	391	ENSP00000319377:V391M;ENSP00000438030:V391M;ENSP00000340473:V391M;ENSP00000346231:V391M;ENSP00000375655:V391M;ENSP00000375653:V391M;ENSP00000375652:V391M	ENSP00000319377:V391M	V	-	1	0	NLRP12	59005554	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-0.138000	0.10374	-0.478000	0.06823	0.485000	0.47835	GTG		0.562	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54313742	C	T	54313742	3	4	16	1	0	0	0	0	1	0	0	0	10474	536	19	1	2142	1	NLRP12	19	54313742	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	20421060	54313742	4815241	34	1092											
SLC5A4	6527	broad.mit.edu	37	chr22	32627012	32627012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagttggtgcagccaacatCaacgccacagtgtttcacgc	10	9	10	12	2	2	0	2	0	0	0	2	0	2	0	2	1	4	4	2	1	3	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr22:32627012C>G	ENST00000266086.4	-	10	1083	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	358					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCCAACATCAACGCCACAG	0.522																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1072-1074)Gat>Cat		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.							139	102	115					22																	32627012		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32627012C>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1072G>C	22.37:g.32627012C>G	ENSP00000266086:p.Asp358His						p.D358H	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			9	1074	-			358					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1072G>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	4.325	0.059641	0.08339	.	.	ENSG00000100191	ENST00000266086	D	0.88201	-2.35	4.86	-0.775	0.10988	.	0.831682	0.11397	N	0.568170	T	0.80696	0.4672	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.68739	-0.5329	10	0.54805	T	0.06	.	8.7848	0.34814	0.0:0.5696:0.0:0.4304	.	358	Q9NY91	SC5A4_HUMAN	H	358	ENSP00000266086:D358H	ENSP00000266086:D358H	D	-	1	0	SLC5A4	30957012	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.694000	0.05115	0.074000	0.16767	0.650000	0.86243	GAT		0.522	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		G	32627012	C	G	32627012	3	3	16	1	0	0	0	0	1	0	0	0	14667	826	29	5	931	5	SLC5A4	22	32627012	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		32627012	18677554	35	1093											
CXorf59	286464	broad.mit.edu	37	chrX	36103467	36103467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctactcatcaacctcGccaccccaaaagttttccag	12	10	3	16	1	3	0	2	0	1	0	5	0	4	0	5	0	2	1	5	0	5	4	rs528323979		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:36103467G>A	ENST00000313548.4	+	5	639	c.453G>A	c.(451-453)tcG>tcA	p.S151S		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	151						integral component of membrane (GO:0016021)		p.S151S(1)									CATCAACCTCGCCACCCCAAA	0.333													g|||	1	0.000264901	0	0.0014	3775	,	,		10470	0		0	False		,,,				2504	0					uc004ddk.1																			1	Substitution - coding silent(1)	p.S151S(2)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.(451-453)tcG>tcA		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							84	82	83					X																	36103467		2202	4300	6502	SO:0001819	synonymous_variant	286464					integral to membrane		g.chrX:36103467G>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.453G>A	X.37:g.36103467G>A							p.S151S	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	639	+			151						Silent	SNP	ENST00000313548.4	37	c.453G>A	CCDS14238.1																																																																																				0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		A	36103467	G	A	36103467	2	1	16	1	0	0	0	0	0	0	0	1	4115	1074	38	1		1	CXorf59	23	36103467	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		36103467	119167093	36	1094											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299499	125299499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccggcctccttgtcccGcatgagggggatgcgcgtga	5	7	15	14	4	0	2	0	2	0	0	2	3	2	3	4	3	2	1	4	3	0	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:125299499G>A	ENST00000360028.2	-	1	435	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R137W			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	137										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCCTTGTCCCGCATGAGGGGG	0.642																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(409-411)Cgg>Tgg		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							82	79	80					X																	125299499		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299499G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.409C>T	X.37:g.125299499G>A	ENSP00000353128:p.Arg137Trp						p.R137W	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	582	-			137					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.409C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.501	1.103254	0.20632	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35789	1.29;1.29	3.75	-1.73	0.08081	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.36799	0.0980	M	0.64997	1.995	0.20403	N	0.999908	D	0.67145	0.996	P	0.50791	0.65	T	0.26360	-1.0105	9	0.87932	D	0	.	1.8557	0.03178	0.1076:0.3139:0.2557:0.3228	.	137	Q5VW00	DC122_HUMAN	W	137	ENSP00000441489:R137W;ENSP00000353128:R137W	ENSP00000353128:R137W	R	-	1	2	DCAF12L2	125127180	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	1.557000	0.36299	-0.547000	0.06207	-0.337000	0.08149	CGG		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125299499	G	A	125299499	3	1	16	1	0	0	0	0	1	0	0	0	4265	1086	38	1	986	1	DCAF12L2	23	125299499	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	89196032	125299499	29971061	37	1095											
OR13H1	347468	broad.mit.edu	37	chrX	130678349	130678349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgatgtttggctcaaaCgagtgtctccttggctttgg	5	14	11	11	2	2	0	1	0	1	0	4	2	3	0	3	3	1	3	3	3	1	3	rs149527425	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:130678349C>T	ENST00000338616.3	+	1	400	c.302C>T	c.(301-303)aCg>aTg	p.T101M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTGGCTCAAACGAGTGTCTCC	0.517																																						uc011muw.2																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(301-303)aCg>aTg		Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.		C	MET/THR	0,3835		0,0,0,1632,571	152	120	131		302	3.7	0.3	X	dbSNP_134	131	15,6713		0,9,6,2419,1866	yes	missense	OR13H1	NM_001004486.1	81	0,9,6,4051,2437	TT,TC,T,CC,C		0.2229,0.0,0.142	benign	101/309	130678349	15,10548	2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678349C>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.302C>T	X.37:g.130678349C>T	ENSP00000340748:p.Thr101Met					IGSF1_uc004ewf.2_Intron	p.T101M	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			0	302	+	Acute lymphoblastic leukemia(192;0.000636)		101					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.302C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.175934	0.00027	0.0	0.002229	ENSG00000171054	ENST00000338616	T	0.03065	4.06	4.86	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.280906	0.25130	N	0.032909	T	0.00845	0.0028	N	0.00146	-1.995	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44742	-0.9308	10	0.07644	T	0.81	.	7.7639	0.28968	0.0:0.1006:0.0:0.8994	.	101	Q8NG92	O13H1_HUMAN	M	101	ENSP00000340748:T101M	ENSP00000340748:T101M	T	+	2	0	OR13H1	130506030	0.992000	0.36948	0.294000	0.24946	0.002000	0.02628	1.301000	0.33447	0.699000	0.31761	-0.314000	0.08810	ACG		0.517	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			T	130678349	C	T	130678349	3	4	16	1	0	0	0	0	1	0	0	0	10943	536	19	1	304	1	OR13H1	23	130678349	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	5378850	130678349	24592211	38	1096											
RPS6KA1	6195	broad.mit.edu	37	chr1	26885365	26885365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagcttcgtggccacCggcctgatggaagacgacgg	7	7	15	12	4	1	2	1	1	0	1	2	4	1	3	3	5	1	2	3	5	1	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:26885365C>T	ENST00000374168.2	+	14	1306	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	RPS6KA1_ENST00000530003.1_Silent_p.T368T|RPS6KA1_ENST00000531382.1_Silent_p.T393T|RPS6KA1_ENST00000374166.4_Silent_p.T373T|RPS6KA1_ENST00000374162.2_Silent_p.T292T|RPS6KA1_ENST00000526792.1_Silent_p.T292T	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	384	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCGTGGCCACCGGCCTGATGG	0.647																																						uc001bmr.1																			0				lung(1)	1						c.(1150-1152)acC>acT		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.							47	47	47					1																	26885365		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885365C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1152C>T	1.37:g.26885365C>T						RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	p.T384T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	13	1315	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	384			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.1152C>T	CCDS284.1																																																																																				0.647	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		T	26885365	C	T	26885365	2	4	17	1	0	0	0	0	0	0	0	1	13650	639	23	2		2	RPS6KA1	1	26885365	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		26885365	222365256	1	1097											
MACF1	23499	broad.mit.edu	37	chr1	39549978	39549978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgatcttacaggagcgagCggtcggggagcctgtctccc	7	7	15	12	4	2	0	0	0	2	0	4	4	2	2	2	4	5	0	2	4	1	1	rs537793971		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:39549978C>T	ENST00000372915.3	+	1	175	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	MACF1_ENST00000567887.1_Missense_Mutation_p.R30W|MACF1_ENST00000539005.1_Missense_Mutation_p.R30W|MACF1_ENST00000361689.2_Missense_Mutation_p.R30W|MACF1_ENST00000317713.7_Missense_Mutation_p.R30W|MACF1_ENST00000602421.1_Missense_Mutation_p.R30W|MACF1_ENST00000484793.1_Missense_Mutation_p.R30W|MACF1_ENST00000545844.1_Missense_Mutation_p.R30W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	30	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAGCGAGCGGTCGGGGAG	0.612																																						uc010oir.2																			0		p.I25V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(73-75)agC>agT		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							61	54	56					1																	39549978		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39549978C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.88C>T	1.37:g.39549978C>T	ENSP00000362006:p.Arg30Trp					MACF1_uc021ols.1_Missense_Mutation_p.R30W|MACF1_uc001cdc.2_Missense_Mutation_p.R30W|MACF1_uc021olt.1_Missense_Mutation_p.R30W	p.S25S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	267	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	0			Actin-binding.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.75C>T		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726047	0.48833	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.67523	-0.24;-0.2;-0.24;-0.27;-0.08	5.35	3.41	0.39046	.	.	.	.	.	T	0.61788	0.2375	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.66114	-0.6004	9	0.87932	D	0	.	10.8473	0.46751	0.3975:0.6025:0.0:0.0	.	30	F8W8Q1	.	W	30;30;30;30;46;30;30	ENSP00000439537:R30W;ENSP00000362006:R30W;ENSP00000354573:R30W;ENSP00000313438:R30W;ENSP00000444364:R30W	ENSP00000313438:R30W	R	+	1	2	MACF1	39322565	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.412000	0.21131	0.561000	0.29186	-0.274000	0.10170	CGG		0.612	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39549978	C	T	39549978	3	4	17	1	0	0	0	0	1	0	0	0	9144	759	27	1	90	1	MACF1	1	39549978	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12664613	39549978	209700643	2	1098											
C1orf161	126868	broad.mit.edu	37	chr1	116666899	116666899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagatgtgaacatcgaCggagacattgtgcctgccaa	13	7	12	9	2	0	4	0	1	0	3	1	7	0	4	2	1	3	0	2	1	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:116666899C>T	ENST00000369500.3	+	4	667	c.402C>T	c.(400-402)gaC>gaT	p.D134D	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	134										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGAACATCGACGGAGACATTG	0.552																																						uc001egc.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(400-402)gaC>gaT		Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.							121	110	113					1																	116666899		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116666899C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.402C>T	1.37:g.116666899C>T							p.D134D	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN			3	667	+			134					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.402C>T	CCDS886.1																																																																																				0.552	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		T	116666899	C	T	116666899	2	4	17	1	0	0	0	0	0	0	0	1	2009	535	19	1		1	C1orf161	1	116666899	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	77116921	116666899	132583722	3	1099											
PDE4DIP	9659	broad.mit.edu	37	chr1	144873981	144873981	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatgcactggttgatGatggtttagaagacaacaca	13	10	11	7	0	0	5	0	3	0	3	0	6	0	5	1	2	2	3	1	2	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:144873981G>T	ENST00000369354.3	-	31	5165	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S1659*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S1615*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.S1795*|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1659					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGGTTGATGATGGTTTAGA	0.473			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4975-4977)tCa>tAa		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							419	425	423					1																	144873981		2203	4297	6500	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144873981G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4976C>A	1.37:g.144873981G>T	ENSP00000358360:p.Ser1659*					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.S1659*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.S666*	p.S1659*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	5278	-			1659					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.4976C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	46	12.962675	0.99709	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	.	.	.	5.27	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	11.8752	0.52544	0.0:0.175:0.825:0.0	.	.	.	.	X	1615;1659;1659;1795	.	ENSP00000327209:S1615X	S	-	2	0	PDE4DIP	143585338	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.816000	0.62642	1.438000	0.47492	0.650000	0.86243	TCA		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144873981	G	T	144873981	4	4	17	1	0	0	0	0	0	1	0	0	11643	1294	45	5	2120	5	PDE4DIP	1	144873981	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	28207082	144873981	104376640	4	1100											
MTMR11	10903	broad.mit.edu	37	chr1	149901596	149901596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggcagcagcagcccTggaggtaaagggcaagctcc	11	4	13	13	0	0	0	0	0	0	0	1	1	1	1	3	4	5	6	3	4	4	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:149901596T>C	ENST00000439741.2	-	16	2110	c.1860A>G	c.(1858-1860)ccA>ccG	p.P620P	MTMR11_ENST00000369140.3_Silent_p.P548P|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR|SF3B4_ENST00000271628.8_5'Flank	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	620	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCCCTGGAGGTAAAG	0.587																																						uc001etl.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1858-1860)ccA>ccG		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.							77	82	81					1																	149901596		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149901596T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1860A>G	1.37:g.149901596T>C						SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.P548P	p.P620P	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		15	2111	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		620			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.1860A>G	CCDS53360.1																																																																																				0.587	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		C	149901596	T	C	149901596	2	2	17	1	0	0	0	0	0	0	0	1	9940	1567	55	4		4	MTMR11	1	149901596	Silent	SNP	T	TCGA-06-0137-01A-01D-1490-08	5027615	149901596	99349025	5	1101											
NTRK1	4914	broad.mit.edu	37	chr1	156836717	156836717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaatctctccttcaaCgctctggagtctctctcctg	6	12	8	15	2	5	0	1	0	4	0	9	2	6	2	2	2	1	2	2	2	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:156836717C>T	ENST00000524377.1	+	4	416	c.375C>T	c.(373-375)aaC>aaT	p.N125N	NTRK1_ENST00000368196.3_Silent_p.N125N|NTRK1_ENST00000358660.3_Silent_p.N125N|NTRK1_ENST00000392302.2_Silent_p.N95N	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	125					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCTCCTTCAACGCTCTGGAGT	0.587			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(373-375)aaC>aaT		Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	Imatinib(DB00619)						106	94	98					1																	156836717		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156836717C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.375C>T	1.37:g.156836717C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	p.N125N	NM_002529	NP_002520	P04629	NTRK1_HUMAN			3	431	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		125					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.375C>T	CCDS1161.1																																																																																				0.587	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156836717	C	T	156836717	2	4	17	1	0	0	0	0	0	0	0	1	10706	535	19	1		1	NTRK1	1	156836717	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	6935121	156836717	92413904	6	1102											
FCRL2	79368	broad.mit.edu	37	chr1	157739709	157739709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatcctgtgagtcaccGtttctgccttgcaccagtaa	7	14	8	12	1	3	2	1	2	2	0	4	2	4	2	4	0	2	3	4	0	1	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:157739709G>A	ENST00000361516.3	-	4	590	c.542C>T	c.(541-543)aCg>aTg	p.T181M	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.T181M|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	181	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGAGTCACCGTTTCTGCCTT	0.527																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(541-543)aCg>aTg		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							91	90	91					1																	157739709		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739709G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.542C>T	1.37:g.157739709G>A	ENSP00000355157:p.Thr181Met					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	p.T181M	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	601	-	all_hematologic(112;0.0378)		181			Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.542C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537985	0.45176	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.11821	2.74;2.74	4.49	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.428606	0.17020	N	0.190153	T	0.21103	0.0508	M	0.85777	2.775	0.09310	N	1	D;D;D	0.76494	0.999;0.996;0.99	D;D;D	0.72982	0.979;0.913;0.913	T	0.05084	-1.0907	10	0.59425	D	0.04	.	5.9469	0.19223	0.1064:0.2043:0.6893:0.0	.	181;181;181	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	M	181	ENSP00000355157:T181M;ENSP00000376100:T181M	ENSP00000355157:T181M	T	-	2	0	FCRL2	156006333	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.895000	0.28363	0.594000	0.29761	0.655000	0.94253	ACG		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		A	157739709	G	A	157739709	3	1	17	1	0	0	0	0	1	0	0	0	5795	1145	40	1	1020	1	FCRL2	1	157739709	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	902992	157739709	91510912	7	1103											
FCAMR	83953	broad.mit.edu	37	chr1	207135779	207135779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcttgggggccccagaCggcaccagtacttcctctgg	6	9	11	15	1	2	1	0	0	2	1	4	1	4	1	5	4	1	2	5	4	1	3	rs374305028		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:207135779C>T	ENST00000324852.4	-	5	905	c.431G>A	c.(430-432)cGt>cAt	p.R144H	FCAMR_ENST00000400962.3_Missense_Mutation_p.R144H|FCAMR_ENST00000450945.2_Missense_Mutation_p.R144H|FCAMR_ENST00000486178.1_5'Flank	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	99	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGCCCCAGACGGCACCAGTA	0.582													C|||	1	0.000199681	0	0	5008	,	,		19084	0		0	False		,,,				2504	0.001				Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(430-432)cGt>cAt		Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3136		0,0,1568	56	55	55		431,431,431	5.3	1	1		55	1,7163		0,1,3581	no	missense,missense,missense	FCAMR	NM_001122979.2,NM_001170631.1,NM_032029.4	29,29,29	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	probably-damaging,probably-damaging,probably-damaging	144/266,144/578,144/266	207135779	1,10299	1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135779C>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.431G>A	1.37:g.207135779C>T	ENSP00000316491:p.Arg144His					FCAMR_uc001hfb.3_Missense_Mutation_p.R144H|FCAMR_uc009xca.2_Missense_Mutation_p.R144H|FCAMR_uc021pig.1_Missense_Mutation_p.R59H	p.R144H	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN			4	931	-			99			Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.431G>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768991	0.90020	0.0	1.4E-4	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.70749	-0.51;-0.51;-0.51	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	D	0.84665	0.5522	M	0.83692	2.655	0.39545	D	0.96887	D;D;D;D	0.89917	1.0;1.0;0.993;1.0	D;D;D;D	0.97110	0.999;1.0;0.924;0.999	D	0.87256	0.2276	10	0.66056	D	0.02	-18.3973	14.5363	0.67963	0.0:1.0:0.0:0.0	.	99;119;99;99	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	H	144;144;144;120	ENSP00000383746:R144H;ENSP00000316491:R144H;ENSP00000392707:R144H	ENSP00000316491:R144H	R	-	2	0	FCAMR	205202402	0.794000	0.28838	0.953000	0.39169	0.982000	0.71751	1.138000	0.31491	2.495000	0.84180	0.655000	0.94253	CGT		0.582	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		T	207135779	C	T	207135779	3	4	17	1	0	0	0	0	1	0	0	0	5772	536	19	1	1318	1	FCAMR	1	207135779	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	49396070	207135779	42114842	8	1104											
PCNXL2	80003	broad.mit.edu	37	chr1	233231513	233231513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatacgaggaatggcaaAgagctgagcaaacacgtgaa	18	4	13	6	2	0	3	0	2	0	1	0	6	0	5	0	3	4	3	0	3	6	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:233231513A>G	ENST00000258229.9	-	22	4168	c.3934T>C	c.(3934-3936)Ttt>Ctt	p.F1312L		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1312						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAATGGCAAAGAGCTGAGCA	0.473																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3934-3936)Ttt>Ctt		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							77	80	79					1																	233231513		1983	4153	6136	SO:0001583	missense	80003					integral to membrane		g.chr1:233231513A>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3934T>C	1.37:g.233231513A>G	ENSP00000258229:p.Phe1312Leu					PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	p.F1312L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			21	4169	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1312					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3934T>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151983	0.78001	.	.	ENSG00000135749	ENST00000258229;ENST00000484347	T	0.09817	2.94	6.17	5.04	0.67666	.	0.046168	0.85682	D	0.000000	T	0.12433	0.0302	L	0.38838	1.175	0.80722	D	1	P	0.41475	0.751	B	0.42522	0.39	T	0.02214	-1.1194	10	0.49607	T	0.09	.	13.7562	0.62937	0.8718:0.1282:0.0:0.0	.	1312	A6NKB5	PCX2_HUMAN	L	1312;148	ENSP00000258229:F1312L	ENSP00000258229:F1312L	F	-	1	0	PCNXL2	231298136	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.287000	0.72671	1.127000	0.42034	0.533000	0.62120	TTT		0.473	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		G	233231513	A	G	233231513	3	3	17	1	0	0	0	0	1	0	0	0	11592	72	3	4	2531	4	PCNXL2	1	233231513	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08	26095734	233231513	16019108	9	1105											
C1orf100	200159	broad.mit.edu	37	chr1	244528021	244528021	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgactgccatccgactaCgagaatttattgagcgtcgc	10	11	9	11	4	1	3	1	2	0	1	3	5	2	3	2	0	3	0	2	0	3	4	rs200838303		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:244528021C>T	ENST00000308105.4	+	2	132	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf100_ENST00000366537.1_Nonsense_Mutation_p.R7*	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	7										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			CATCCGACTACGAGAATTTAT	0.468													C|||	1	0.000199681	0	0	5008	,	,		17822	0		0	False		,,,				2504	0.001					uc001iah.3																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7						c.(19-21)Cga>Tga		Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.		C	stop/ARG	0,4406		0,0,2203	130	127	128		19	1.5	0.4	1		128	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C1orf100	NM_001012970.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/148	244528021	1,13005	2203	4300	6503	SO:0001587	stop_gained	200159							g.chr1:244528021C>T	BC054479	CCDS31079.1, CCDS60465.1	1q44	2008-02-05			ENSG00000173728	ENSG00000173728			30435	protein-coding gene	gene with protein product							Standard	NM_001276348		Approved		uc001iah.4	Q5SVJ3	OTTHUMG00000040104	ENST00000308105.4:c.19C>T	1.37:g.244528021C>T	ENSP00000311218:p.Arg7*					C1orf100_uc001iai.3_Nonsense_Mutation_p.R7*	p.R7*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		1	132	+	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		7					Q5SVJ4	Nonsense_Mutation	SNP	ENST00000308105.4	37	c.19C>T	CCDS31079.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224000	0.95139	0.0	1.16E-4	ENSG00000173728	ENST00000366537;ENST00000308105	.	.	.	4.78	1.49	0.22878	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4705	10.7933	0.46445	0.5874:0.4126:0.0:0.0	.	.	.	.	X	7	.	ENSP00000311218:R7X	R	+	1	2	C1orf100	242594644	0.544000	0.26441	0.417000	0.26559	0.873000	0.50193	0.668000	0.25127	0.174000	0.19809	0.650000	0.86243	CGA		0.468	C1orf100-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096712.1	NM_001012970		T	244528021	C	T	244528021	4	4	17	1	0	0	0	0	0	1	0	0	1975	528	19	1	21	1	C1orf100	1	244528021	Nonsense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	11296508	244528021	4722600	10	1106											
OR2T10	127069	broad.mit.edu	37	chr1	248756435	248756435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagacactgaaatgaccGtcacaggtatcaggagcatg	15	7	11	8	1	2	3	2	2	0	1	2	4	2	4	1	2	1	3	1	2	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:248756435G>A	ENST00000330500.2	-	1	665	c.635C>T	c.(634-636)aCg>aTg	p.T212M	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAATGACCGTCACAGGTAT	0.458																																						uc010pzn.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(634-636)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.							88	88	88					1																	248756435		2054	4235	6289	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756435G>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.635C>T	1.37:g.248756435G>A	ENSP00000329210:p.Thr212Met						p.T212M	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	635	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		212					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.635C>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.604	-0.827925	0.02734	.	.	ENSG00000184022	ENST00000330500	T	0.37752	1.18	2.35	-0.0542	0.13815	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17238	0.0414	N	0.16567	0.415	0.09310	N	1	B	0.32829	0.386	B	0.25884	0.064	T	0.14643	-1.0465	9	0.52906	T	0.07	.	4.0595	0.09832	0.3059:0.2008:0.4932:0.0	.	212	Q8NGZ9	O2T10_HUMAN	M	212	ENSP00000329210:T212M	ENSP00000329210:T212M	T	-	2	0	OR2T10	246823058	0.000000	0.05858	0.042000	0.18584	0.018000	0.09664	-0.601000	0.05687	0.179000	0.19938	0.447000	0.29281	ACG		0.458	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		A	248756435	G	A	248756435	3	1	17	1	0	0	0	0	1	0	0	0	11017	1145	40	1	306	1	OR2T10	1	248756435	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	4228414	248756435	494186	11	1107											
ABCG8	64241	broad.mit.edu	37	chr2	44078770	44078770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcactggccgaggtcacGgcggcaagatcaagtcaggc	10	6	14	11	3	4	2	4	1	0	1	4	3	4	2	1	5	0	1	1	5	2	0	rs143276716		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:44078770G>A	ENST00000272286.2	+	4	460	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	124	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCGAGGTCACGGCGGCAAGAT	0.617																																						uc002rtq.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(370-372)Ggc>Agc		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.		G	SER/GLY	0,4406		0,0,2203	74	61	66		370	4	0.3	2	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCG8	NM_022437.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	124/674	44078770	2,13004	2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078770G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.370G>A	2.37:g.44078770G>A	ENSP00000272286:p.Gly124Ser					ABCG8_uc010yoa.2_Missense_Mutation_p.G124S	p.G124S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			3	460	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	124			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.370G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146907	0.77888	0.0	2.33E-4	ENSG00000143921	ENST00000272286	D	0.93547	-3.24	4.92	4.03	0.46877	ABC transporter-like (2);	0.051672	0.85682	D	0.000000	D	0.88930	0.6571	N	0.01809	-0.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.97;0.982	D	0.86589	0.1859	10	0.16420	T	0.52	.	13.4791	0.61326	0.0769:0.0:0.9231:0.0	.	124;124	Q9H221-2;Q9H221	.;ABCG8_HUMAN	S	124	ENSP00000272286:G124S	ENSP00000272286:G124S	G	+	1	0	ABCG8	43932274	1.000000	0.71417	0.264000	0.24511	0.688000	0.40055	7.298000	0.78815	2.283000	0.76528	0.655000	0.94253	GGC		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		A	44078770	G	A	44078770	3	1	17	1	0	0	0	0	1	0	0	0	72	1116	39	2	384	2	ABCG8	2	44078770	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		44078770	199120603	12	1108											
CFC1	55997	broad.mit.edu	37	chr2	131356244	131356244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccgggagtaggggagcGgctcctccggcccccagccc	6	3	15	17	3	0	0	0	0	0	0	2	2	2	2	6	5	3	2	6	5	2	1	rs139623987	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:131356244G>A	ENST00000259216.4	-	3	480	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	73					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GTAGGGGAGCGGCTCCTCCGG	0.622													G|||	2	0.000399361	0	0.0014	5008	,	,		22906	0		0.001	False		,,,				2504	0					uc002tro.1																			0											c.(217-219)cCg>cTg		Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.		G	LEU/PRO	1,4391		0,1,2195	43	61	55		218	-0.2	0	2	dbSNP_134	55	0,8598		0,0,4299	no	missense	CFC1	NM_032545.2	98	0,1,6494	AA,AG,GG		0.0,0.0228,0.0077	benign	73/224	131356244	1,12989	2196	4299	6495	SO:0001583	missense	653275				gastrulation	extracellular region		g.chr2:131356244G>A	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"heterotaxy 2 (autosomal dominant)"	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.218C>T	2.37:g.131356244G>A	ENSP00000259216:p.Pro73Leu						p.P73L	NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN			2	609	-	Colorectal(110;0.1)		73					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000259216.4	37	c.218C>T	CCDS2162.1	.	.	.	.	.	.	.	.	.	.	.	0.178	-1.064867	0.01934	2.28E-4	0.0	ENSG00000136698	ENST00000259216	D	0.88431	-2.38	1.72	-0.21	0.13176	.	1.184560	0.06096	N	0.664543	T	0.74038	0.3664	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.59064	-0.7524	10	0.19590	T	0.45	-38.4432	4.0804	0.09924	0.4168:0.0:0.5832:0.0	.	73	P0CG37	CFC1_HUMAN	L	73	ENSP00000259216:P73L	ENSP00000259216:P73L	P	-	2	0	CFC1	131072714	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.050000	0.14120	-0.071000	0.12886	0.436000	0.28706	CCG		0.622	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		A	131356244	G	A	131356244	3	1	17	1	0	0	0	0	1	0	0	0	3279	1116	39	2	1165	2	CFC1	2	131356244	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	87277474	131356244	111843129	13	1109											
TTN	7273	broad.mit.edu	37	chr2	179497473	179497473	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttagcctcatctttctcGaagactttaacatcactgag	12	13	5	11	1	4	2	2	1	2	1	5	3	4	2	1	0	3	0	1	0	4	4	rs372382546	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:179497473G>A	ENST00000591111.1	-	185	38561	c.38337C>T	c.(38335-38337)ttC>ttT	p.F12779F	TTN_ENST00000342992.6_Silent_p.F11852F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.F5480F|TTN_ENST00000460472.2_Silent_p.F5355F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.F14420F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.F5547F			Q8WZ42	TITIN_HUMAN	titin	12779	Ig-like 85.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCTCGAAGACTTTAA	0.428													G|||	5	0.000998403	0.0015	0	5008	,	,		21497	0.003		0	False		,,,				2504	0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35554-35556)ttC>ttT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	2,3808		0,2,1903	133	130	131		16065,35556,16440,16641	-1	1	2		131	0,8260		0,0,4130	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6033	AA,AG,GG		0.0,0.0525,0.0166	,,,	5355/26927,11852/33424,5480/27052,5547/27119	179497473	2,12068	1905	4130	6035	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38337C>T	2.37:g.179497473G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5547F|TTN_uc021vta.1_Silent_p.F5480F|TTN_uc021vtb.1_Silent_p.F5355F	p.F11852F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		183	35781	-			12779			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35556C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179497473	G	A	179497473	2	1	17	1	0	0	0	0	0	0	0	1	16732	1049	37	2		2	TTN	2	179497473	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	48141229	179497473	63701900	14	1110											
ITGA4	3676	broad.mit.edu	37	chr2	182358131	182358131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgcagatgggatctcGtcaaccttctcacaggtaag	9	9	12	11	2	3	1	2	0	2	1	5	2	3	2	2	3	2	2	2	3	2	2	rs368002151		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:182358131G>A	ENST00000397033.2	+	11	1663	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	411					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGGGATCTCGTCAACCTTCT	0.368																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1231-1233)tcG>tcA		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)	G		0,3752		0,0,1876	105	99	101		1233	-11.7	0	2		101	1,8197		0,1,4098	no	coding-synonymous	ITGA4	NM_000885.4		0,1,5974	AA,AG,GG		0.0122,0.0,0.0084		411/1033	182358131	1,11949	1876	4099	5975	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182358131G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1233G>A	2.37:g.182358131G>A							p.S411S	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1996	+			411					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1233G>A	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182358131	G	A	182358131	2	1	17	1	0	0	0	0	0	0	0	1	7878	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	2860658	182358131	60841242	15	1111											
SERPINE2	5270	broad.mit.edu	37	chr2	224866465	224866465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcccatggggagagatcacGatgttgtcatgaggcctcga	10	9	13	9	2	2	2	2	1	0	1	4	6	3	3	2	3	0	1	2	3	0	1	rs3795875		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:224866465G>A	ENST00000258405.4	-	2	395	c.153C>T	c.(151-153)atC>atT	p.I51I	SERPINE2_ENST00000409304.1_Silent_p.I51I|SERPINE2_ENST00000447280.2_Silent_p.I63I|SERPINE2_ENST00000409840.3_Silent_p.I51I	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	51			I -> M (in dbSNP:rs3795875).		blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567													G|||	1	0.000199681	0	0	5008	,	,		16824	0		0.001	False		,,,				2504	0					uc010zlr.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(187-189)atC>atT		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.							119	112	114					2																	224866465		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866465G>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.153C>T	2.37:g.224866465G>A						SERPINE2_uc002vnu.2_Silent_p.I51I|SERPINE2_uc002vnv.2_Silent_p.I51I	p.I63I	NM_001136530	NP_001130000	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	1	326	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	51					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.189C>T	CCDS2460.1																																																																																				0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		A	224866465	G	A	224866465	2	1	17	1	0	0	0	0	0	0	0	1	14112	1048	37	2		2	SERPINE2	2	224866465	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	42508334	224866465	18332908	16	1112											
B3GNT7	93010	broad.mit.edu	37	chr2	232262645	232262645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgtggctgcgcccaCgcccatggcctctcaggggc	7	6	14	14	2	1	1	1	0	1	1	2	2	1	1	3	4	1	1	3	4	1	0	rs199641918	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:232262645C>T	ENST00000287590.5	+	2	476	c.215C>T	c.(214-216)aCg>aTg	p.T72M	B3GNT7_ENST00000479618.1_3'UTR|AC017104.6_ENST00000415129.1_RNA	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	72					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGCGCCCACGCCCATGGCC	0.617													c|||	5	0.000998403	0	0	5008	,	,		15556	0		0.002	False		,,,				2504	0.0031					uc002vrs.3																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(214-216)aCg>aTg		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.		T	MET/THR	0,3858		0,0,1929	37	43	41		215	-1.4	0	2		41	3,8249		0,3,4123	yes	missense	B3GNT7	NM_145236.2	81	0,3,6052	TT,TC,CC		0.0364,0.0,0.0248	benign	72/402	232262645	3,12107	1929	4126	6055	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262645C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.215C>T	2.37:g.232262645C>T	ENSP00000287590:p.Thr72Met						p.T72M	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	1	395	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	72					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.215C>T	CCDS46540.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	5.114	0.206662	0.09704	0.0	3.64E-4	ENSG00000156966	ENST00000287590	T	0.35973	1.28	5.5	-1.36	0.09085	.	0.398089	0.19662	U	0.108960	T	0.23649	0.0572	L	0.54323	1.7	0.09310	N	1	P	0.48350	0.909	B	0.39027	0.288	T	0.17623	-1.0363	10	0.52906	T	0.07	.	2.5458	0.04736	0.1008:0.2667:0.3505:0.282	.	72	Q8NFL0	B3GN7_HUMAN	M	72	ENSP00000287590:T72M	ENSP00000287590:T72M	T	+	2	0	B3GNT7	231970889	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.599000	0.05700	0.030000	0.15379	-0.735000	0.03563	ACG		0.617	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		T	232262645	C	T	232262645	3	4	17	1	0	0	0	0	1	0	0	0	1262	536	19	1	221	1	B3GNT7	2	232262645	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	7396180	232262645	10936728	17	1113											
SCN5A	6331	broad.mit.edu	37	chr3	38592883	38592883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgaggaagagcagcagcccGatgttgaagagggcaggcag	13	3	17	8	2	0	3	0	1	0	2	0	6	0	4	1	3	3	5	1	3	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38592883G>A	ENST00000333535.4	-	28	5129	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	SCN5A_ENST00000423572.2_Silent_p.I1659I|SCN5A_ENST00000414099.2_Silent_p.I1642I|SCN5A_ENST00000425664.1_Silent_p.I1642I|SCN5A_ENST00000455624.2_Silent_p.I1627I|SCN5A_ENST00000443581.1_Silent_p.I1659I|SCN5A_ENST00000450102.2_Silent_p.I1606I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Silent_p.I1606I|SCN5A_ENST00000413689.1_Silent_p.I1660I|SCN5A_ENST00000449557.2_Silent_p.I1606I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1660			I -> V (in BRGDA1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane). {ECO:0000269|PubMed:17075016}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I1660I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGCAGCCCGATGTTGAAGA	0.567																																						uc021wvo.1																			1	Substitution - coding silent(1)	p.I1660I(2)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4978-4980)atC>atT		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						156	152	153					3																	38592883		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592883G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4980C>T	3.37:g.38592883G>A						SCN5A_uc021wvk.1_Silent_p.I1627I|SCN5A_uc021wvl.1_Silent_p.I1606I|SCN5A_uc021wvm.1_Silent_p.I1642I|SCN5A_uc021wvn.1_Silent_p.I1659I|SCN5A_uc021wvp.1_Silent_p.I1660I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1472I|SCN5A_uc021wvi.1_Silent_p.I1526I	p.I1660I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5032	-	Medulloblastoma(35;0.163)		1660		I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4980C>T	CCDS46796.1																																																																																				0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38592883	G	A	38592883	2	1	17	1	0	0	0	0	0	0	0	1	13922	1048	37	2		2	SCN5A	3	38592883	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		38592883	159429547	18	1114											
SCN10A	6336	broad.mit.edu	37	chr3	38765036	38765036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagaggagcttgtgtcGtccactccctgcaggggaga	7	8	13	13	1	1	2	1	0	0	2	4	4	3	3	3	3	2	2	3	3	0	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38765036G>A	ENST00000449082.2	-	18	3236	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1079					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCTTGTGTCGTCCACTCCCT	0.597																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3235-3237)gaC>gaT		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						50	44	46					3																	38765036		2201	4299	6500	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38765036G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3237C>T	3.37:g.38765036G>A							p.D1079D	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3237	-			1079					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.3237C>T	CCDS33736.1																																																																																				0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38765036	G	A	38765036	2	1	17	1	0	0	0	0	0	0	0	1	13912	1136	40	1		1	SCN10A	3	38765036	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	172153	38765036	159257394	19	1115											
SCN10A	6336	broad.mit.edu	37	chr3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcggagatattttttcGgttgttacggtagttttccc	5	16	13	7	4	0	1	0	0	0	1	2	2	1	1	1	4	1	4	1	4	3	9			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38770224G>A	ENST00000449082.2	-	15	2448	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	817					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R817*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATATTTTTTCGGTTGTTACGG	0.532																																						uc003ciq.3																			1	Substitution - Nonsense(1)	p.R817*(2)	ovary(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2449-2451)Cga>Tga		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						125	126	126					3																	38770224		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770224G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2449C>T	3.37:g.38770224G>A	ENSP00000390600:p.Arg817*						p.R817*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2449	-			817					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.2449C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831187	0.71258	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.75	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	2.468	0.04557	0.1323:0.1878:0.2164:0.4634	.	.	.	.	X	817	.	ENSP00000390600:R817X	R	-	1	2	SCN10A	38745228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.063000	0.11655	-0.311000	0.08754	-0.181000	0.13052	CGA		0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38770224	G	A	38770224	4	1	17	1	0	0	0	0	0	1	0	0	13912	1124	39	2	3473	2	SCN10A	3	38770224	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5188	38770224	159252206	20	1116											
EPHA6	285220	broad.mit.edu	37	chr3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaactcaacactgaaattCgtgaggtggggcctatagaa	14	9	10	8	1	2	3	2	2	0	1	3	3	2	3	1	3	2	0	1	3	6	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	174						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443																																						uc010how.1																			3	Substitution - Missense(3)	p.R174C(3)	NS(2)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(802-804)Cgt>Tgt		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							209	214	213					3																	96706525		1888	4146	6034	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706525C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.802C>T	3.37:g.96706525C>T	ENSP00000374323:p.Arg268Cys					EPHA6_uc003drp.1_Missense_Mutation_p.R268C	p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			2	845	+			173					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.802C>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973211|3.973211	0.74246|0.74246	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.10668|.	2.85;2.85;2.85|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	U|.	0.000014|.	T|T	0.78616|0.78616	0.4311|0.4311	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.79196|0.79196	-0.1903|-0.1903	10|5	0.87932|.	D|.	0|.	.|.	18.3424|18.3424	0.90309|0.90309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	268;268|.	B3KS12;E7EU71|.	.;.|.	C|L	268;268;174|212	ENSP00000420598:R268C;ENSP00000374323:R268C;ENSP00000439758:R174C|.	ENSP00000374323:R268C|.	R|S	+|+	1|2	0|0	EPHA6|EPHA6	98189215|98189215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.950000|5.950000	0.70265|0.70265	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		T	96706525	C	T	96706525	3	4	17	1	0	0	0	0	1	0	0	0	5171	884	31	2	812	2	EPHA6	3	96706525	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	57936301	96706525	101315905	21	1117											
TMPRSS7	344805	broad.mit.edu	37	chr3	111782428	111782428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgtccctcaggcccagCgttgtgatggagtaaatgac	9	11	12	9	1	1	2	1	2	0	0	2	3	2	3	2	2	1	2	2	2	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:111782428C>T	ENST00000452346.2	+	12	1507	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R376C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	502	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGGCCCAGCGTTGTGATGG	0.383																																						uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1126-1128)Cgt>Tgt		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							269	256	260					3																	111782428		1960	4167	6127	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111782428C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1504C>T	3.37:g.111782428C>T	ENSP00000398236:p.Arg502Cys					TMPRSS7_uc011bhr.1_Missense_Mutation_p.R231C	p.R376C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			9	1296	+			502			CUB 2.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1126C>T		.	.	.	.	.	.	.	.	.	.	C	17.91	3.504433	0.64410	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.95980	-3.87;-3.87	5.79	2.93	0.34026	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.062939	0.64402	D	0.000006	D	0.97757	0.9264	M	0.91140	3.18	0.53688	D	0.999973	D;D	0.89917	1.0;0.999	D;P	0.69307	0.963;0.862	D	0.97259	0.9903	10	0.56958	D	0.05	.	12.8276	0.57728	0.4288:0.5712:0.0:0.0	.	502;376	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	502;490;476;376	ENSP00000398236:R502C;ENSP00000411645:R376C	ENSP00000411645:R376C	R	+	1	0	TMPRSS7	113265118	1.000000	0.71417	0.980000	0.43619	0.866000	0.49608	2.393000	0.44442	0.317000	0.23160	0.563000	0.77884	CGT		0.383	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		T	111782428	C	T	111782428	3	4	17	1	0	0	0	0	1	0	0	0	16249	768	27	1	1160	1	TMPRSS7	3	111782428	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	15075903	111782428	86240002	22	1118											
POLQ	10721	broad.mit.edu	37	chr3	121212455	121212455	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatttagtaaggatacccGaaccaggtcacacagctccc	13	7	8	13	1	1	0	1	0	0	0	2	2	2	1	3	2	4	3	3	2	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:121212455G>T	ENST00000264233.5	-	15	2520	c.2392C>A	c.(2392-2394)Cgg>Agg	p.R798R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	798					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGATACCCGAACCAGGTCA	0.488								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2392-2394)Cgg>Agg	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							81	77	78					3																	121212455		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121212455G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2392C>A	3.37:g.121212455G>T						POLQ_uc003eed.3_5'Flank	p.R798R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	14	2521	-			798					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.2392C>A	CCDS33833.1																																																																																				0.488	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		T	121212455	G	T	121212455	2	4	17	1	0	0	0	0	0	0	0	1	12208	1057	37	5		5	POLQ	3	121212455	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	9430027	121212455	76809975	23	1119											
AGTR1	185	broad.mit.edu	37	chr3	148459240	148459240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagtcccgccttcgaCgcacaatgcttgtagccaaa	12	8	8	13	3	0	1	0	1	0	0	2	2	1	1	3	0	2	3	3	0	5	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:148459240C>T	ENST00000497524.1	+	2	809	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AGTR1_ENST00000542281.1_Missense_Mutation_p.R140C|AGTR1_ENST00000418473.2_Missense_Mutation_p.R140C|AGTR1_ENST00000404754.2_Missense_Mutation_p.R140C|AGTR1_ENST00000474935.1_Missense_Mutation_p.R140C|AGTR1_ENST00000461609.1_Missense_Mutation_p.R140C|AGTR1_ENST00000349243.3_Missense_Mutation_p.R140C|AGTR1_ENST00000475347.1_Missense_Mutation_p.R140C|AGTR1_ENST00000402260.1_Missense_Mutation_p.R140C	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	140					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.R140C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCGCCTTCGACGCACAATGCT	0.473																																						uc003ewg.3																			1	Substitution - Missense(1)	p.R140C(2)|p.R140H(1)|p.R139*(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(418-420)Cgc>Tgc		Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						124	117	120					3																	148459240		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459240C>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.418C>T	3.37:g.148459240C>T	ENSP00000419422:p.Arg140Cys					AGTR1_uc003ewh.3_Missense_Mutation_p.R140C|AGTR1_uc003ewi.3_Missense_Mutation_p.R140C|AGTR1_uc003ewj.3_Missense_Mutation_p.R140C|AGTR1_uc003ewk.3_Missense_Mutation_p.R140C|AGTR1_uc021xfj.1_Missense_Mutation_p.R140C	p.R140C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		3	864	+			140					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.418C>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611154	0.87258	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81064	-0.1102	10	0.87932	D	0	-12.5606	19.387	0.94560	0.0:1.0:0.0:0.0	.	140	P30556	AGTR1_HUMAN	C	140	ENSP00000419422:R140C;ENSP00000273430:R140C;ENSP00000443186:R140C;ENSP00000398832:R140C;ENSP00000385612:R140C;ENSP00000419783:R140C;ENSP00000418084:R140C;ENSP00000418851:R140C;ENSP00000385641:R140C	ENSP00000273430:R140C	R	+	1	0	AGTR1	149941930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	CGC		0.473	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			T	148459240	C	T	148459240	3	4	17	1	0	0	0	0	1	0	0	0	401	536	19	1	420	1	AGTR1	3	148459240	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	27246785	148459240	49563190	24	1120											
RTP2	344892	broad.mit.edu	37	chr3	187416724	187416724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagcccgcccgctgggcGcggtccaggaacatgtggaa	8	4	15	14	5	0	0	0	0	0	0	1	3	1	2	4	4	2	1	4	4	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:187416724G>A	ENST00000358241.1	-	2	668	c.240C>T	c.(238-240)cgC>cgT	p.R80R		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	80					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657																																						uc003fro.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(238-240)cgC>cgT		Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.							24	24	24					3																	187416724		2202	4300	6502	SO:0001819	synonymous_variant	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416724G>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.240C>T	3.37:g.187416724G>A							p.R80R	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	669	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		80					Q6NVH4	Silent	SNP	ENST00000358241.1	37	c.240C>T	CCDS33911.1																																																																																				0.657	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		A	187416724	G	A	187416724	2	1	17	1	0	0	0	0	0	0	0	1	13734	1074	38	1		1	RTP2	3	187416724	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	38957484	187416724	10605706	25	1121											
TLR6	10333	broad.mit.edu	37	chr4	38830432	38830432	+	Frame_Shift_Del	DEL	C	C	-																															atattagtcagttgtaagcaCcctaaagtattaactgatat																								rs146892714		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:38830432delC	ENST00000381950.1	-	1	728	c.663delG	c.(661-663)gggfs	p.G221fs	TLR6_ENST00000436693.2_Frame_Shift_Del_p.G221fs			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	221					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGTAAGCACCCTAAAGTAT	0.323																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(661-663)gggfs		Homo sapiens toll-like receptor 6 (TLR6), mRNA.							48	54	52					4																	38830432		2202	4300	6502	SO:0001589	frameshift_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830432delC		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.663delG	4.37:g.38830432delC	ENSP00000371376:p.Gly221fs					TLR6_uc003gtm.3_Frame_Shift_Del_p.G221fs	p.G221fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	784	-			221					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Frame_Shift_Del	DEL	ENST00000381950.1	37	c.663delG	CCDS3446.1																																																																																				0.323	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			-	38830432	C	-	38830432	7	5	17	1	0	1	0	1	0	0	0	0	15952	494	18	0	1731	0	TLR6	4	38830432	Frame_Shift_Del	DEL	C	TCGA-06-0137-01A-01D-1490-08		38830432	152323844	26	1122											
TMEM156	80008	broad.mit.edu	37	chr4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtcctggtgaagttacGaaaattggagggatttagaa	14	10	13	4	1	0	2	0	1	0	1	1	5	1	4	1	3	1	2	1	3	7	4	rs13118782		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:39000377G>A	ENST00000381938.3	-	2	348	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	81						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368																																						uc003gto.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(241-243)Cgt>Tgt		Homo sapiens transmembrane protein 156 (TMEM156), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	73	75		241	3.9	1	4	dbSNP_121	75	0,8600		0,0,4300	no	missense	TMEM156	NM_024943.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	81/297	39000377	1,13005	2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:39000377G>A	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.241C>T	4.37:g.39000377G>A	ENSP00000371364:p.Arg81Cys					TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN			1	349	-			81					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.241C>T	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965822	0.18583	2.27E-4	0.0	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.24908	1.83;1.83	4.73	3.87	0.44632	.	0.628966	0.15713	N	0.248325	T	0.13670	0.0331	N	0.08118	0	0.29143	N	0.878895	B	0.26400	0.148	B	0.16722	0.016	T	0.11108	-1.0601	10	0.87932	D	0	-1.3883	10.9337	0.47233	0.0:0.1896:0.8104:0.0	.	81	Q8N614	TM156_HUMAN	C	81	ENSP00000371364:R81C;ENSP00000343758:R81C	ENSP00000343758:R81C	R	-	1	0	TMEM156	38676772	1.000000	0.71417	0.971000	0.41717	0.055000	0.15305	1.721000	0.38032	1.306000	0.44926	0.609000	0.83330	CGT		0.368	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		A	39000377	G	A	39000377	3	1	17	1	0	0	0	0	1	0	0	0	16070	1058	37	2	669	2	TMEM156	4	39000377	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	169945	39000377	152153899	27	1123											
RAI14	26064	broad.mit.edu	37	chr5	34823835	34823835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgatgaagctgaggacAtgaaagaagccatgaatagg	16	6	13	6	0	0	6	0	5	0	1	0	7	0	7	2	2	2	1	2	2	5	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:34823835A>G	ENST00000265109.3	+	15	2175	c.1888A>G	c.(1888-1890)Atg>Gtg	p.M630V	RAI14_ENST00000512629.1_Missense_Mutation_p.M601V|RAI14_ENST00000515799.1_Missense_Mutation_p.M633V|RAI14_ENST00000397449.1_Missense_Mutation_p.M623V|RAI14_ENST00000503673.1_Missense_Mutation_p.M630V|RAI14_ENST00000428746.2_Missense_Mutation_p.M630V|RAI14_ENST00000506376.1_Missense_Mutation_p.M622V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	630						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCTGAGGACATGAAAGAAGC	0.418																																						uc003jis.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1897-1899)Atg>Gtg		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							71	75	73					5																	34823835		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823835A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1888A>G	5.37:g.34823835A>G	ENSP00000265109:p.Met630Val					RAI14_uc003jir.3_Missense_Mutation_p.M630V|RAI14_uc010iur.3_Missense_Mutation_p.M601V|RAI14_uc011coj.2_Missense_Mutation_p.M630V|RAI14_uc003jit.3_Missense_Mutation_p.M630V|RAI14_uc011cok.2_Missense_Mutation_p.M622V	p.M633V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN			16	2436	+	all_lung(31;0.000191)		630					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1897A>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719359	0.48728	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37058	1.27;1.22;1.27;1.27;1.26;1.3;1.3	5.68	5.68	0.88126	.	.	.	.	.	T	0.31167	0.0788	L	0.32530	0.975	0.39792	D	0.972454	P;P;P;P	0.48294	0.885;0.817;0.908;0.817	B;B;P;B	0.45195	0.392;0.3;0.473;0.197	T	0.10706	-1.0618	9	0.41790	T	0.15	-24.0936	10.3028	0.43663	0.9267:0.0:0.0733:0.0	.	622;601;633;630	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	630;601;630;630;633;622;623	ENSP00000265109:M630V;ENSP00000422377:M601V;ENSP00000388725:M630V;ENSP00000422942:M630V;ENSP00000427123:M633V;ENSP00000423854:M622V;ENSP00000380591:M623V	ENSP00000265109:M630V	M	+	1	0	RAI14	34859592	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.986000	0.49370	2.167000	0.68274	0.454000	0.30748	ATG		0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34823835	A	G	34823835	3	3	17	1	0	0	0	0	1	0	0	0	13008	217	8	4	2007	4	RAI14	5	34823835	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08		34823835	146091425	28	1124											
UGT3A2	167127	broad.mit.edu	37	chr5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatagggcttgaggtgcGtcgcgccccctgtctggagg	6	8	16	11	3	1	2	0	1	1	1	2	3	1	3	2	4	1	1	2	4	1	2	rs199567567		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627																																						uc003jjz.2																			0		p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1405-1407)aCg>aTg		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.		G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	54	48	50		1304,1406	1.9	0	5		50	0,8600		0,0,4300	no	missense,missense	UGT3A2	NM_001168316.1,NM_174914.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	435/490,469/524	36035966	2,13004	2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035966G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1406C>T	5.37:g.36035966G>A	ENSP00000282507:p.Thr469Met					UGT3A2_uc011cos.2_Missense_Mutation_p.T435M|UGT3A2_uc011cot.2_Missense_Mutation_p.T167M	p.T469M	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1538	-	all_lung(31;0.000179)		469					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1406C>T	CCDS3914.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.410	0.075871	0.08485	4.54E-4	0.0	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59772	0.24;0.24;0.24	2.74	1.86	0.25419	.	0.469551	0.17381	U	0.176282	T	0.50480	0.1618	L	0.43923	1.385	0.09310	N	1	P;P	0.42908	0.688;0.793	P;B	0.46144	0.505;0.436	T	0.42816	-0.9429	10	0.72032	D	0.01	.	5.1652	0.15082	0.1188:0.0:0.6791:0.2021	.	435;469	E9PFK7;Q3SY77	.;UD3A2_HUMAN	M	469;435;167	ENSP00000282507:T469M;ENSP00000427404:T435M;ENSP00000445367:T167M	ENSP00000282507:T469M	T	-	2	0	UGT3A2	36071723	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.542000	0.23222	0.717000	0.32145	-0.222000	0.12452	ACG		0.627	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		A	36035966	G	A	36035966	3	1	17	1	0	0	0	0	1	0	0	0	16961	1145	40	1	169	1	UGT3A2	5	36035966	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1212131	36035966	144879294	29	1125											
HEATR7B2	133558	broad.mit.edu	37	chr5	41067251	41067251	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcataataaatcaatcGttggacaattgcatcatcca	17	10	6	8	1	2	1	2	0	0	1	4	2	3	2	1	1	2	3	1	1	6	4	rs562368242		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:41067251G>A	ENST00000399564.4	-	3	610	c.160C>T	c.(160-162)Cga>Tga	p.R54*		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	54																	TAAATCAATCGTTGGACAATT	0.373													G|||	1	0.000199681	0	0	5008	,	,		20502	0		0	False		,,,				2504	0.001					uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(160-162)Cga>Tga		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							67	60	62					5																	41067251		1876	4085	5961	SO:0001587	stop_gained	133558						binding	g.chr5:41067251G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.160C>T	5.37:g.41067251G>A	ENSP00000382476:p.Arg54*					HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.R54*	p.R54*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			2	650	-			54					Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.160C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	38	7.141545	0.98092	.	.	ENSG00000171495	ENST00000399564	.	.	.	6.17	1.72	0.24424	.	0.827701	0.10419	N	0.676957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6668	0.62401	0.0:0.0:0.2722:0.7278	.	.	.	.	X	54	.	ENSP00000382476:R54X	R	-	1	2	HEATR7B2	41103008	0.063000	0.20901	0.121000	0.21740	0.731000	0.41821	0.385000	0.20685	0.373000	0.24621	0.655000	0.94253	CGA		0.373	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		A	41067251	G	A	41067251	4	1	17	1	0	0	0	0	0	1	0	0	7035	1153	40	1	4757	1	HEATR7B2	5	41067251	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5031285	41067251	139848009	30	1126											
SLC27A6	28965	broad.mit.edu	37	chr5	128302221	128302221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgccaagctgggctgcGtggtggcctttctcaacacc	5	9	12	15	2	1	0	1	0	1	0	3	0	1	0	4	3	3	2	4	3	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:128302221G>A	ENST00000262462.4	+	1	1401	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V131M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V131M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	131					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTGGGCTGCGTGGTGGCCTT	0.592																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(391-393)Gtg>Atg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							71	52	59					5																	128302221		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302221G>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.391G>A	5.37:g.128302221G>A	ENSP00000262462:p.Val131Met					SLC27A6_uc003kuz.3_Missense_Mutation_p.V131M	p.V131M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	787	+		all_cancers(142;0.0483)|Prostate(80;0.055)	131					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.391G>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438915	0.63067	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52295	0.67;0.67;0.67	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.359252	0.29389	N	0.012289	T	0.67011	0.2848	M	0.84846	2.72	0.35754	D	0.819668	D	0.61080	0.989	P	0.60789	0.879	T	0.76503	-0.2935	10	0.48119	T	0.1	-2.983	13.5543	0.61751	0.0:0.1566:0.8434:0.0	.	131	Q9Y2P4	S27A6_HUMAN	M	131	ENSP00000262462:V131M;ENSP00000378684:V131M;ENSP00000421024:V131M	ENSP00000262462:V131M	V	+	1	0	SLC27A6	128330120	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	1.974000	0.40559	2.623000	0.88846	0.561000	0.74099	GTG		0.592	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		A	128302221	G	A	128302221	3	1	17	1	0	0	0	0	1	0	0	0	14530	1145	40	1	393	1	SLC27A6	5	128302221	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	87234970	128302221	52613039	31	1127											
ABLIM3	22885	broad.mit.edu	37	chr5	148637854	148637854	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccctgcctccttcagCgccacctgtcccaggaagag	6	7	10	18	1	1	1	1	0	0	1	3	2	3	2	7	1	3	0	7	1	1	1	rs371092037		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:148637854C>T	ENST00000506113.1	+	23	2421	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	ABLIM3_ENST00000309868.7_Splice_Site_p.R647C|ABLIM3_ENST00000504238.1_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Splice_Site_p.R133C|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Splice_Site_p.R552C|ABLIM3_ENST00000508983.1_Splice_Site_p.R614C|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	647	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTCAGCGCCACCTGTC	0.582																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e24-1		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.		C	CYS/ARG	0,4406		0,0,2203	46	44	44		1939	5.9	1	5		44	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	ABLIM3	NM_014945.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	647/684	148637854	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148637854C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1939-1C>T	5.37:g.148637854C>T						ABLIM3_uc003lpz.1_Splice_Site_p.R647_splice|ABLIM3_uc003lqa.1_Splice_Site_p.R544_splice|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Splice_Site_p.R614_splice|ABLIM3_uc003lqd.1_Splice_Site_p.R552_splice|ABLIM3_uc003lqe.1_Splice_Site_p.R536_splice|ABLIM3_uc003lqf.3_Intron	p.R647_splice	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		24	2190	+			647			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1939_splice	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759320	0.89932	0.0	1.16E-4	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T	0.59502	0.26;0.33;0.33;0.34;0.62	5.87	5.87	0.94306	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.77918	-0.2408	9	.	.	.	.	16.4505	0.83984	0.1317:0.8683:0.0:0.0	.	133;552;647	O94929-4;O94929-3;O94929	.;.;ABLM3_HUMAN	C	552;647;647;614;133;132	ENSP00000315841:R552C;ENSP00000310309:R647C;ENSP00000425394:R647C;ENSP00000420855:R614C;ENSP00000430150:R133C	.	R	+	1	0	ABLIM3	148618047	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.958000	0.56737	2.787000	0.95880	0.549000	0.68633	CGC		0.582	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	Missense_Mutation	T	148637854	C	T	148637854	5	4	17	1	0	0	0	0	0	0	1	0	96	782	27	1	2029	1	ABLIM3	5	148637854	Splice_Site	SNP	C	TCGA-06-0137-01A-01D-1490-08	20335633	148637854	32277406	32	1128											
DOCK2	1794	broad.mit.edu	37	chr5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattgtcagagatgaagacGgaaatatcttggaccctgat	13	11	11	6	1	2	5	1	3	1	2	2	8	2	7	1	2	0	0	1	2	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:169108785G>A	ENST00000256935.8	+	7	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	170					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.G170R(3)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAAGACGGAAATATCTT	0.413																																						uc003maf.3																			3	Substitution - Missense(3)	p.G170R(6)	large_intestine(2)|prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(508-510)Gga>Aga		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							161	151	155					5																	169108785		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169108785G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.508G>A	5.37:g.169108785G>A	ENSP00000256935:p.Gly170Arg					DOCK2_uc011der.2_Non-coding_Transcript	p.G170R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	588	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	170					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.508G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852928	0.91355	.	.	ENSG00000134516	ENST00000256935	T	0.61859	0.07	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84909	0.0847	10	0.56958	D	0.05	.	18.0283	0.89275	0.0:0.0:1.0:0.0	.	170	Q92608	DOCK2_HUMAN	R	170	ENSP00000256935:G170R	ENSP00000256935:G170R	G	+	1	0	DOCK2	169041363	1.000000	0.71417	0.995000	0.50966	0.843000	0.47879	9.412000	0.97347	2.323000	0.78572	0.655000	0.94253	GGA		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169108785	G	A	169108785	3	1	17	1	0	0	0	0	1	0	0	0	4687	1117	39	2	534	2	DOCK2	5	169108785	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	20470931	169108785	11806475	33	1129											
C6orf153	88745	broad.mit.edu	37	chr6	42993026	42993026	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgtcagccaagatcCgagtaccatttttacgtcag	12	11	9	9	2	2	1	2	0	0	1	3	3	3	2	3	1	3	1	3	1	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:42993026C>A	ENST00000244496.5	+	3	314	c.304C>A	c.(304-306)Cga>Aga	p.R102R		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	102					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGCCAAGATCCGAGTACCATT	0.493																																						uc003otp.1																			0		p.I101M(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(304-306)Cga>Aga		Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.							123	120	121					6																	42993026		2203	4300	6503	SO:0001819	synonymous_variant	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42993026C>A	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.304C>A	6.37:g.42993026C>A							p.R102R	NM_033112	NP_149103	Q96EU6	RRP36_HUMAN			2	312	+			102					Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	37	c.304C>A	CCDS34453.1																																																																																				0.493	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		A	42993026	C	A	42993026	2	1	17	1	0	0	0	0	0	0	0	1	2338	644	23	5		5	C6orf153	6	42993026	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		42993026	128122041	34	1130											
HCRTR2	3062	broad.mit.edu	37	chr6	55120034	55120034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttaagagcacagcaaagcGggcccgtaacagcattgtca	13	7	11	10	2	1	1	1	0	0	1	1	1	1	1	1	1	5	5	1	1	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:55120034G>A	ENST00000370862.3	+	3	839	c.503G>A	c.(502-504)cGg>cAg	p.R168Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	168					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGCAAAGCGGGCCCGTAAC	0.517																																						uc003pcl.3																			0		p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(502-504)cGg>cAg		Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.							178	148	158					6																	55120034		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120034G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.503G>A	6.37:g.55120034G>A	ENSP00000359899:p.Arg168Gln					HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103Q	p.R168Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	818	+	Lung NSC(77;0.107)|Renal(3;0.122)		168					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.503G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355631	0.95854	.	.	ENSG00000137252	ENST00000370862	T	0.40476	1.03	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.49244	-0.8960	10	0.12430	T	0.62	.	18.3959	0.90497	0.0:0.0:1.0:0.0	.	168;168	Q548Y0;O43614	.;OX2R_HUMAN	Q	168	ENSP00000359899:R168Q	ENSP00000359899:R168Q	R	+	2	0	HCRTR2	55227993	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	9.476000	0.97823	2.345000	0.79718	0.484000	0.47621	CGG		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			A	55120034	G	A	55120034	3	1	17	1	0	0	0	0	1	0	0	0	7002	1116	39	2	513	2	HCRTR2	6	55120034	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	12127008	55120034	115995033	35	1131											
COL19A1	1310	broad.mit.edu	37	chr6	70840111	70840111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaggcctgaaaggagAcaaggtaatcagattttttt	13	11	12	5	0	1	3	1	1	0	2	1	5	1	4	1	4	1	2	1	4	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:70840111A>G	ENST00000322773.4	+	18	1481	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	COL19A1_ENST00000393344.1_Missense_Mutation_p.D82G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	460	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGAAAGGAGACAAGGTAATC	0.403																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1378-1380)gAc>gGc		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							69	73	72					6																	70840111		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70840111A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1379A>G	6.37:g.70840111A>G	ENSP00000316030:p.Asp460Gly					COL19A1_uc010kam.2_Missense_Mutation_p.D356G	p.D460G	NM_001858	NP_001849	Q14993	COJA1_HUMAN			17	1496	+			460			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1379A>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	4.085	0.013745	0.07959	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;D	0.89875	-2.58;-2.58	3.1	3.1	0.35709	.	0.617705	0.14776	N	0.299056	T	0.73337	0.3574	L	0.50993	1.605	0.26713	N	0.970932	B	0.11235	0.004	B	0.19391	0.025	T	0.61637	-0.7022	10	0.23302	T	0.38	.	7.9531	0.30027	1.0:0.0:0.0:0.0	.	460	Q14993	COJA1_HUMAN	G	460;82;34	ENSP00000316030:D460G;ENSP00000377013:D82G	ENSP00000316030:D460G	D	+	2	0	COL19A1	70896832	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	1.281000	0.33214	1.646000	0.50622	0.383000	0.25322	GAC		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			G	70840111	A	G	70840111	3	3	17	1	0	0	0	0	1	0	0	0	3676	275	10	4	1445	4	COL19A1	6	70840111	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08	15720077	70840111	100274956	36	1132											
ZNF292	23036	broad.mit.edu	37	chr6	87967291	87967291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctaaaggggggtaatgGtgaaaatgcagtttttcctt	10	15	11	5	0	1	1	0	1	1	0	2	1	2	1	1	4	1	3	1	4	5	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:87967291G>C	ENST00000369577.3	+	8	3987	c.3944G>C	c.(3943-3945)gGt>gCt	p.G1315A	ZNF292_ENST00000339907.4_Missense_Mutation_p.G1310A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1315						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGGGTAATGGTGAAAATGCA	0.383																																						uc003plm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3943-3945)gGt>gCt		Homo sapiens zinc finger protein 292 (ZNF292), mRNA.							28	27	27					6																	87967291		1857	4096	5953	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967291G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3944G>C	6.37:g.87967291G>C	ENSP00000358590:p.Gly1315Ala						p.G1315A	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	7	3985	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1315					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.3944G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074778	0.01903	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.05258	3.47;3.48	5.5	2.6	0.31112	.	0.608537	0.18045	N	0.153477	T	0.00496	0.0016	N	0.02011	-0.69	0.24475	N	0.994376	B	0.02656	0.0	B	0.04013	0.001	T	0.46596	-0.9180	10	0.02654	T	1	.	3.2914	0.06950	0.0863:0.1295:0.3585:0.4258	.	1315	O60281	ZN292_HUMAN	A	1315;1310	ENSP00000358590:G1315A;ENSP00000342847:G1310A	ENSP00000342847:G1310A	G	+	2	0	ZNF292	88024010	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	2.599000	0.46231	1.303000	0.44873	0.650000	0.86243	GGT		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		C	87967291	G	C	87967291	3	2	17	1	0	0	0	0	1	0	0	0	17823	1261	44	5	3974	5	ZNF292	6	87967291	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	17127180	87967291	83147776	37	1133											
IQCE	23288	broad.mit.edu	37	chr7	2611946	2611946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggccacatctcaggcGctctgccagcaacggtgagc	10	5	13	13	2	2	2	1	1	2	1	3	3	2	2	2	3	4	2	2	3	2	0	rs199937900		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:2611946G>A	ENST00000402050.2	+	5	564	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IQCE_ENST00000325979.7_Missense_Mutation_p.R62H|IQCE_ENST00000438376.2_Missense_Mutation_p.R111H|IQCE_ENST00000404984.1_Missense_Mutation_p.R76H	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	127						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCAGGCGCTCTGCCAGC	0.617																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(379-381)cGc>cAc		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							34	37	36					7																	2611946		2068	4218	6286	SO:0001583	missense	23288							g.chr7:2611946G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.380G>A	7.37:g.2611946G>A	ENSP00000385597:p.Arg127His					IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smo.4_Missense_Mutation_p.R127H|IQCE_uc003smk.4_Missense_Mutation_p.R111H|IQCE_uc003smn.4_Missense_Mutation_p.R62H	p.R127H	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	4	564	+		Ovarian(82;0.0112)	127					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.380G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283735	0.10458	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.58358	2.89;2.89;0.34;2.89;2.89;2.89	3.99	0.941	0.19519	.	0.546927	0.18455	N	0.140710	T	0.41373	0.1156	L	0.57536	1.79	0.26418	N	0.976156	P;P;P;B;P;P	0.44260	0.707;0.83;0.766;0.317;0.83;0.588	B;B;B;B;B;B	0.38264	0.102;0.269;0.158;0.026;0.269;0.103	T	0.35549	-0.9784	10	0.59425	D	0.04	-0.0945	4.7748	0.13173	0.0883:0.1494:0.6081:0.1542	.	62;111;62;127;127;111	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	H	127;76;127;111;62;62;62	ENSP00000385597:R127H;ENSP00000385945:R76H;ENSP00000404643:R127H;ENSP00000396178:R111H;ENSP00000313772:R62H;ENSP00000413570:R62H	ENSP00000313772:R62H	R	+	2	0	IQCE	2578472	0.974000	0.33945	0.312000	0.25196	0.098000	0.18820	0.764000	0.26532	0.055000	0.16094	-0.274000	0.10170	CGC		0.617	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		A	2611946	G	A	2611946	3	1	17	1	0	0	0	0	1	0	0	0	7806	1087	38	1	398	1	IQCE	7	2611946	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		2611946	156526717	38	1134											
OGDH	4967	broad.mit.edu	37	chr7	44736643	44736643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcggctgagcggccaggaCgtggagcggggcacattcag	8	6	17	10	4	1	1	1	1	0	0	2	3	1	3	1	6	2	2	1	6	0	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:44736643C>T	ENST00000222673.5	+	15	2073	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	OGDH_ENST00000439616.2_Silent_p.D527D|OGDH_ENST00000543843.1_Silent_p.D628D|OGDH_ENST00000449767.1_Silent_p.D673D|OGDH_ENST00000444676.1_Silent_p.D692D|OGDH_ENST00000447398.1_Silent_p.D688D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	677					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCGGCCAGGACGTGGAGCGGG	0.552																																						uc003tln.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2029-2031)gaC>gaT		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						100	79	86					7																	44736643		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44736643C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2031C>T	7.37:g.44736643C>T						OGDH_uc011kbx.2_Silent_p.D673D|OGDH_uc011kby.2_Silent_p.D527D|OGDH_uc003tlp.3_Silent_p.D688D|OGDH_uc011kbz.2_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	p.D677D	NM_002541	NP_002532	Q02218	ODO1_HUMAN			14	2190	+			677					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2031C>T	CCDS34627.1																																																																																				0.552	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44736643	C	T	44736643	2	4	17	1	0	0	0	0	0	0	0	1	10839	535	19	1		1	OGDH	7	44736643	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	42124697	44736643	114402020	39	1135											
EGFR	1956	broad.mit.edu	37	chr7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtcaagacctgccCggcaggagtcatgggagaaa	11	5	13	12	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:55233037C>T	ENST00000275493.2	+	15	1964	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_ENST00000454757.2_Missense_Mutation_p.P543L|EGFR_ENST00000342916.3_Missense_Mutation_p.P596L|EGFR_ENST00000455089.1_Missense_Mutation_p.P551L|EGFR_ENST00000442591.1_Missense_Mutation_p.P596L|EGFR_ENST00000344576.2_Missense_Mutation_p.P596L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P596L(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.P596L(7)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1786-1788)cCg>cTg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93	81	85					7																	55233037		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233037C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1787C>T	7.37:g.55233037C>T	ENSP00000275493:p.Pro596Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1787C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224989	0.95173	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.996;0.99;0.994	D	0.86044	0.1521	10	0.87932	D	0	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	551;596;466;596;596;596;543;390	ENSP00000415559:P551L;ENSP00000342376:P596L;ENSP00000345973:P596L;ENSP00000275493:P596L;ENSP00000410031:P596L;ENSP00000395243:P543L	ENSP00000275493:P596L	P	+	2	0	EGFR	55200531	1.000000	0.71417	0.967000	0.41034	0.752000	0.42762	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233037	C	T	55233037	3	4	17	1	0	0	0	0	1	0	0	0	4967	652	23	2	1856	2	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	10496394	55233037	103905626	40	1136											
ZNF716	441234	broad.mit.edu	37	chr7	57529294	57529294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcataagaggattcatactgGagagaaaccctacacttgtg	14	10	9	8	0	2	2	2	0	0	2	2	5	2	4	1	2	3	0	1	2	4	5			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:57529294G>T	ENST00000420713.1	+	4	1239	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.413																																						uc011kdi.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1126-1128)gGa>gTa		Homo sapiens zinc finger protein 716 (ZNF716), mRNA.							44	46	46					7																	57529294		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529294G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1127G>T	7.37:g.57529294G>T	ENSP00000394248:p.Gly376Val						p.G376V	NM_001159279	NP_001152751					3	1239	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.1127G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991299	0.35131	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.23552	1.9	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39835	0.1093	M	0.83953	2.67	0.58432	D	0.999995	D	0.65815	0.995	P	0.54706	0.759	T	0.39165	-0.9627	9	0.87932	D	0	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	364	A6NP11	ZN716_HUMAN	V	376;364	ENSP00000394248:G376V	ENSP00000387687:G364V	G	+	2	0	ZNF716	57533236	0.997000	0.39634	0.013000	0.15412	0.013000	0.08279	3.028000	0.49705	0.300000	0.22699	0.306000	0.20318	GGA		0.413	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		T	57529294	G	T	57529294	3	4	17	1	0	0	0	0	1	0	0	0	18116	1174	41	5	1141	5	ZNF716	7	57529294	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	2296257	57529294	101609369	41	1137											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74234528	74234528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatactatggatctctcCgcatctgttaccatcccagg	8	12	9	12	1	2	1	0	1	2	0	5	2	4	2	3	3	2	2	3	3	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:74234528C>T	ENST00000405086.2	-	7	786	c.597G>A	c.(595-597)gcG>gcA	p.A199A	GTF2IRD2_ENST00000361071.5_Silent_p.A199A|GTF2IRD2_ENST00000453619.2_Silent_p.A199A	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TGGATCTCTCCGCATCTGTTA	0.443																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(595-597)gcG>gcA		Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.							10	7	8					7																	74234528		1463	3034	4497	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74234528C>T	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.597G>A	7.37:g.74234528C>T						GTF2IRD2_uc011kfi.2_Silent_p.A199A|GTF2IRD2_uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A	p.A199A	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN			6	781	-			199					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.597G>A	CCDS5576.1																																																																																				0.443	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		T	74234528	C	T	74234528	2	4	17	1	0	0	0	0	0	0	0	1	6869	639	23	2		2	GTF2IRD2	7	74234528	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	16705234	74234528	84904135	42	1138											
PCLO	27445	broad.mit.edu	37	chr7	82763627	82763627	+	Frame_Shift_Del	DEL	G	G	-																															acacttgattcttgcattcaGtgcaagtattgaagttagga																										TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:82763627delG	ENST00000333891.9	-	3	3576	c.3239delC	c.(3238-3240)actfs	p.T1080fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1080fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGCATTCAGTGCAAGTATT	0.353																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3238-3240)actfs		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							48	44	45					7																	82763627		1857	4098	5955	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763627delG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3239delC	7.37:g.82763627delG	ENSP00000334319:p.Thr1080fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	p.T1080fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	3528	-			1026						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3239delC	CCDS47630.1																																																																																				0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82763627	G	-	82763627	7	5	17	1	0	1	0	1	0	0	0	0	11583	1029	36	0	12298	0	PCLO	7	82763627	Frame_Shift_Del	DEL	G	TCGA-06-0137-01A-01D-1490-08	8529099	82763627	76375036	43	1139											
PTN	5764	broad.mit.edu	37	chr7	136938378	136938378	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtcagacttcttcactTttttttctgaatgaaaggag	11	15	7	8	0	4	3	2	2	2	1	4	4	4	4	0	1	0	0	0	1	2	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:136938378T>A	ENST00000348225.2	-	3	549	c.122A>T	c.(121-123)aAa>aTa	p.K41I	PTN_ENST00000393083.2_Missense_Mutation_p.K41I	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	41					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTTCACTTTTTTTTCTGA	0.473																																						uc003vtq.2																			0		p.K40I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(121-123)aAa>aTa		Homo sapiens pleiotrophin (PTN), mRNA.							43	44	43					7																	136938378		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938378T>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.122A>T	7.37:g.136938378T>A	ENSP00000341170:p.Lys41Ile						p.K41I	NM_002825	NP_002816	P21246	PTN_HUMAN			2	485	-			41					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.122A>T	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.044530	0.93685	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.66	5.66	0.87406	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.096943	0.64402	D	0.000001	T	0.65842	0.2730	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.69394	-0.5157	9	0.62326	D	0.03	-13.4773	15.8997	0.79362	0.0:0.0:0.0:1.0	.	41;41	C9JR52;P21246	.;PTN_HUMAN	I	41	.	ENSP00000341170:K41I	K	-	2	0	PTN	136588918	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.829000	0.86735	2.157000	0.67596	0.482000	0.46254	AAA		0.473	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		A	136938378	T	A	136938378	3	1	17	1	0	0	0	0	1	0	0	0	12768	1841	64	5	396	5	PTN	7	136938378	Missense_Mutation	SNP	T	TCGA-06-0137-01A-01D-1490-08	54174751	136938378	22200285	44	1140											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138440463	138440463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccagcctcacattgaCgctctccaacatctctctgc	8	12	4	17	1	5	1	1	1	4	0	8	1	6	1	3	0	3	1	3	0	1	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:138440463C>T	ENST00000310018.2	-	10	1069	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.V263I|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.V263I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	263					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCACATTGACGCTCTCCAAC	0.522																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(787-789)Gtc>Atc		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							144	128	134					7																	138440463		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138440463C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.787G>A	7.37:g.138440463C>T	ENSP00000308122:p.Val263Ile					ATP6V0A4_uc003vug.3_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.V263I	p.V263I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			8	1025	-			263					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.787G>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514528	0.44763	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86097	-2.07;-2.07;-2.07	6.17	3.45	0.39498	.	0.489617	0.20303	N	0.094987	T	0.79604	0.4474	L	0.49455	1.56	0.47037	D	0.999291	B	0.33857	0.429	B	0.28305	0.088	T	0.75419	-0.3324	10	0.54805	T	0.06	-30.0853	11.7342	0.51755	0.0:0.8109:0.0:0.1891	.	263	Q9HBG4	VPP4_HUMAN	I	263	ENSP00000308122:V263I;ENSP00000376774:V263I;ENSP00000253856:V263I	ENSP00000308122:V263I	V	-	1	0	ATP6V0A4	138091003	0.907000	0.30839	0.189000	0.23252	0.053000	0.15095	1.882000	0.39648	0.497000	0.27926	0.655000	0.94253	GTC		0.522	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		T	138440463	C	T	138440463	3	4	17	1	0	0	0	0	1	0	0	0	1170	536	19	1	1787	1	ATP6V0A4	7	138440463	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	1502085	138440463	20698200	45	1141											
DLGAP2	9228	broad.mit.edu	37	chr8	1497705	1497705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttggcgctgacgcccgaCgccaagtacctgaagcgcag	8	5	15	13	5	0	2	0	2	0	0	0	3	0	2	3	2	2	4	3	2	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:1497705C>T	ENST00000421627.2	+	2	980	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	361					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647																																						uc003wpl.3																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(844-846)gaC>gaT		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							26	30	28					8																	1497705		2161	4275	6436	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497705C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.846C>T	8.37:g.1497705C>T						DLGAP2_uc003wpm.3_Silent_p.D282D	p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	1	943	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	361					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.846C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339180	0.01287	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.3	-6.51	0.01878	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-10.0145	3.5557	0.07863	0.1768:0.1667:0.0886:0.5679	.	.	.	.	M	299	.	.	T	+	2	0	DLGAP2	1485112	0.626000	0.27120	0.000000	0.03702	0.028000	0.11728	-0.263000	0.08670	-2.123000	0.00823	-1.731000	0.00696	ACG		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1497705	C	T	1497705	2	4	17	1	0	0	0	0	0	0	0	1	4560	535	19	1		1	DLGAP2	8	1497705	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		1497705	144866317	46	1142											
KCNV1	27012	broad.mit.edu	37	chr8	110984522	110984522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctttagcatgcgcagaGccctgagcagcctcaacacc	10	6	9	16	1	1	2	1	1	0	1	1	2	1	2	4	0	7	4	4	0	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:110984522G>T	ENST00000524391.1	-	3	1988	c.956C>A	c.(955-957)gCt>gAt	p.A319D	KCNV1_ENST00000297404.1_Missense_Mutation_p.A319D|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	319					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCGCAGAGCCCTGAGCAG	0.502																																						uc003ynr.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(955-957)gCt>gAt		Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.							79	71	74					8																	110984522		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984522G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.956C>A	8.37:g.110984522G>T	ENSP00000435954:p.Ala319Asp					KCNV1_uc010mcw.3_Missense_Mutation_p.A319D	p.A319D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		1	1760	-	all_neural(195;0.219)		319					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.956C>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777686	0.70107	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98684	-5.07;-5.07	5.95	5.95	0.96441	Ion transport (1);	0.060159	0.64402	D	0.000003	D	0.98169	0.9395	L	0.49571	1.57	0.48901	D	0.999727	P	0.49307	0.922	P	0.49953	0.627	D	0.99123	1.0850	10	0.87932	D	0	.	19.3629	0.94448	0.0:0.0:1.0:0.0	.	319	Q6PIU1	KCNV1_HUMAN	D	319;319;195	ENSP00000435954:A319D;ENSP00000297404:A319D	ENSP00000297404:A319D	A	-	2	0	KCNV1	111053698	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.811000	0.62606	2.817000	0.96982	0.563000	0.77884	GCT		0.502	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		T	110984522	G	T	110984522	3	4	17	1	0	0	0	0	1	0	0	0	8094	971	34	5	554	5	KCNV1	8	110984522	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	109486817	110984522	35379500	47	1143											
CSMD3	114788	broad.mit.edu	37	chr8	113988211	113988211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctgaatttctgagactCgtaacttgcactcgctgttc	9	13	8	11	2	1	3	0	2	1	2	4	4	1	3	1	0	2	4	1	0	2	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:113988211C>T	ENST00000297405.5	-	7	1441	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	CSMD3_ENST00000343508.3_Silent_p.T359T|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Silent_p.T399T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	399						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGAGACTCGTAACTTGCA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1195-1197)acG>acA		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							214	186	196					8																	113988211		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113988211C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1197G>A	8.37:g.113988211C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Silent_p.T359T|CSMD3_uc011lhx.2_Intron	p.T399T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			6	1356	-			399					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.1197G>A	CCDS6315.1																																																																																				0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113988211	C	T	113988211	2	4	17	1	0	0	0	0	0	0	0	1	3946	871	31	2		2	CSMD3	8	113988211	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	3003689	113988211	32375811	48	1144											
GABBR2	9568	broad.mit.edu	37	chr9	101235479	101235479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggctcgaaatccacGccaatgtagccctccatggc	9	7	10	15	2	1	0	1	0	0	0	4	1	3	0	4	3	1	2	4	3	3	1	rs369085352		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:101235479G>A	ENST00000259455.2	-	6	1407	c.948C>T	c.(946-948)ggC>ggT	p.G316G	GABBR2_ENST00000477471.1_5'Flank	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	316					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAAATCCACGCCAATGTAGC	0.572																																						uc004ays.3																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(946-948)ggC>ggT		Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	Baclofen(DB00181)	A		0,4406		0,0,2203	158	117	131		948	-11.9	0	9		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		316/942	101235479	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101235479G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.948C>T	9.37:g.101235479G>A							p.G316G	NM_005458	NP_005449	O75899	GABR2_HUMAN			5	1408	-		Acute lymphoblastic leukemia(62;0.0527)	316					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.948C>T	CCDS6736.1																																																																																				0.572	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			A	101235479	G	A	101235479	2	1	17	1	0	0	0	0	0	0	0	1	6156	1074	38	1		1	GABBR2	9	101235479	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		101235479	39977952	49	1145											
TSC1	7248	broad.mit.edu	37	chr9	135804224	135804224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgggggagtccagcatGgcaagaagctccccgacatt	11	6	13	11	1	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:135804224G>T	ENST00000298552.3	-	3	257	c.36C>A	c.(34-36)gcC>gcA	p.A12A	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Silent_p.A12A|TSC1_ENST00000545250.1_Silent_p.A12A|TSC1_ENST00000440111.2_Silent_p.A12A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	12					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.A12A(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTCCAGCATGGCAAGAAGCT	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"D, Mis, N, F, S"	tuberous sclerosis 1 gene			"E, O"		"hamartoma, renal cell"			1	Substitution - coding silent(1)	p.A12A(2)	central_nervous_system(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(34-36)gcC>gcA		Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.							110	91	98					9																	135804224		2203	4300	6503	SO:0001819	synonymous_variant	7248	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135804224G>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.36C>A	9.37:g.135804224G>T						TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	p.A12A	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	2	270	-			12					B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	c.36C>A	CCDS6956.1																																																																																				0.502	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			T	135804224	G	T	135804224	2	4	17	1	0	0	0	0	0	0	0	1	16602	1335	47	5		5	TSC1	9	135804224	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	34568745	135804224	5409207	50	1146											
LCN1	3933	broad.mit.edu	37	chr9	138415812	138415812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggcgagctgcacgggaagCcggtccgaggggtgaagctc	8	4	19	10	4	0	1	0	1	0	0	2	4	1	2	2	5	4	3	2	5	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:138415812C>T	ENST00000263598.2	+	4	439	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	LCN1_ENST00000371781.3_Missense_Mutation_p.P127S	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	127					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCACGGGAAGCCGGTCCGAGG	0.632																																						uc022bpk.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(379-381)Ccg>Tcg		Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.							83	69	74					9																	138415812		2203	4300	6503	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415812C>T		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.379C>T	9.37:g.138415812C>T	ENSP00000263598:p.Pro127Ser					LCN1_uc022bpj.1_Missense_Mutation_p.P127S|LCN1_uc004cfz.2_Missense_Mutation_p.P127S|LCN1_uc004cga.2_Missense_Mutation_p.P127S	p.P127S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	3	439	+		Myeloproliferative disorder(178;0.0511)	127					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.379C>T	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.149964	0.01714	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.06849	3.25;3.25	3.11	-3.52	0.04682	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.336730	0.05385	N	0.538038	T	0.03305	0.0096	N	0.04959	-0.14	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.43925	-0.9361	10	0.07813	T	0.8	.	6.4234	0.21756	0.4587:0.2398:0.3015:0.0	.	127	P31025	LCN1_HUMAN	S	127	ENSP00000263598:P127S;ENSP00000360846:P127S	ENSP00000263598:P127S	P	+	1	0	LCN1	137555633	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	-0.731000	0.04862	-0.346000	0.07831	CCG		0.632	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		T	138415812	C	T	138415812	3	4	17	1	0	0	0	0	1	0	0	0	8680	739	26	3	393	3	LCN1	9	138415812	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	2611588	138415812	2797619	51	1147											
OR52K1	390036	broad.mit.edu	37	chr11	4511035	4511035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagaccaagcagattcGtgagtatgtgctcagtctat	12	11	10	8	1	3	3	2	1	1	2	4	3	3	3	1	0	2	3	1	0	4	3	rs572972458		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4511035G>A	ENST00000307632.3	+	1	927	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGCAGATTCGTGAGTATGTG	0.433													A|||	1	0.000199681	0	0	5008	,	,		23238	0		0	False		,,,				2504	0.001					uc001lza.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(904-906)cGt>cAt		Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.							123	114	117					11																	4511035		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4511035G>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.905G>A	11.37:g.4511035G>A	ENSP00000302422:p.Arg302His						p.R302H	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	927	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	302					B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.905G>A	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	g	2.684	-0.274672	0.05679	.	.	ENSG00000196778	ENST00000307632	T	0.58358	0.34	4.5	2.64	0.31445	.	0.138923	0.33217	N	0.005149	T	0.49184	0.1542	M	0.72353	2.195	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.50329	-0.8841	10	0.66056	D	0.02	.	9.3374	0.38058	0.1932:0.0:0.8068:0.0	.	302	Q8NGK4	O52K1_HUMAN	H	302	ENSP00000302422:R302H	ENSP00000302422:R302H	R	+	2	0	OR52K1	4467611	0.001000	0.12720	0.732000	0.30844	0.041000	0.13682	0.201000	0.17276	0.651000	0.30788	-1.857000	0.00563	CGT		0.433	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		A	4511035	G	A	4511035	3	1	17	1	0	0	0	0	1	0	0	0	11123	1145	40	1	907	1	OR52K1	11	4511035	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		4511035	130495481	52	1148											
OR51F1	256892	broad.mit.edu	37	chr11	4790947	4790947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagatcagtggctgatagCctgaagaggaaataatacat	15	8	10	8	0	1	4	1	2	0	2	1	5	1	5	2	2	2	1	2	2	5	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4790947C>A	ENST00000380383.1	-	1	221	c.222G>T	c.(220-222)agG>agT	p.R74S	OR51F1_ENST00000343430.3_Missense_Mutation_p.R67S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	74			R -> M (in dbSNP:rs11033800).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGCTGATAGCCTGAAGAGGA	0.443																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(199-201)agG>agT		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							69	65	67					11																	4790947		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790947C>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.222G>T	11.37:g.4790947C>A	ENSP00000369744:p.Arg74Ser						p.R67S	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	201	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	67						Missense_Mutation	SNP	ENST00000380383.1	37	c.201G>T		.	.	.	.	.	.	.	.	.	.	C	10.06	1.246983	0.22796	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.02916	4.11;4.11	4.81	0.607	0.17564	GPCR, rhodopsin-like superfamily (1);	0.189083	0.36628	N	0.002497	T	0.00936	0.0031	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47032	-0.9148	10	0.87932	D	0	.	3.6855	0.08327	0.1329:0.5953:0.1291:0.1427	.	74	A6NGY5	O51F1_HUMAN	S	67;74	ENSP00000345163:R67S;ENSP00000369744:R74S	ENSP00000345163:R67S	R	-	3	2	OR51F1	4747523	0.272000	0.24172	0.618000	0.29105	0.591000	0.36615	0.579000	0.23788	-0.039000	0.13602	0.585000	0.79938	AGG		0.443	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		A	4790947	C	A	4790947	3	1	17	1	0	0	0	0	1	0	0	0	11096	738	26	5	740	5	OR51F1	11	4790947	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	279912	4790947	130215569	53	1149											
RBMXL2	27288	broad.mit.edu	37	chr11	7111041	7111041	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactaccgcgaaccccggggTtttgccccctcgcccggaga	6	6	12	17	5	0	1	0	0	0	1	1	4	0	1	6	3	3	1	6	3	2	3	rs540744917		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:7111041T>G	ENST00000306904.5	+	1	877	c.690T>G	c.(688-690)ggT>ggG	p.G230G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	230	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCGGGGTTTTGCCCCCT	0.692																																						uc001mfc.2																			0		p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(688-690)ggT>ggG		Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.							15	17	16					11																	7111041		2185	4270	6455	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111041T>G	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.690T>G	11.37:g.7111041T>G							p.G230G	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	877	+			230			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.690T>G	CCDS7777.1																																																																																				0.692	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		G	7111041	T	G	7111041	2	3	17	1	0	0	0	0	0	0	0	1	13154	1712	60	5		5	RBMXL2	11	7111041	Silent	SNP	T	TCGA-06-0137-01A-01D-1490-08	2320094	7111041	127895475	54	1150											
PLEKHA7	144100	broad.mit.edu	37	chr11	16838834	16838834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggacagggattggccaGgaccctggcgaggaagcgtc	10	4	18	9	2	0	0	0	0	0	0	1	6	0	5	2	7	1	0	2	7	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:16838834G>A	ENST00000355661.3	-	11	1389	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P460L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P460L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	460					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGATTGGCCAGGACCCTGGCG	0.602																																						uc010rcu.1																			0		p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1378-1380)cCt>cTt		Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.							44	50	48					11																	16838834		2193	4282	6475	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838834G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1379C>T	11.37:g.16838834G>A	ENSP00000347883:p.Pro460Leu					PLEKHA7_uc001mmo.3_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P168L	p.P460L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			10	1394	-			460					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1379C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047737	0.75846	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.09073	3.03;3.02;3.02	4.6	3.64	0.41730	.	0.227351	0.46145	D	0.000304	T	0.22513	0.0543	M	0.71871	2.18	0.50039	D	0.999841	P;D;P;D	0.64830	0.9;0.982;0.78;0.994	P;P;B;P	0.60117	0.553;0.743;0.335;0.869	T	0.01114	-1.1447	10	0.87932	D	0	-11.6653	12.3032	0.54887	0.0:0.0:0.8313:0.1687	.	34;460;460;460	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	L	460	ENSP00000435389:P460L;ENSP00000347883:P460L;ENSP00000416895:P460L	ENSP00000347883:P460L	P	-	2	0	PLEKHA7	16795410	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	6.341000	0.72977	2.119000	0.64992	0.462000	0.41574	CCT		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		A	16838834	G	A	16838834	3	1	17	1	0	0	0	0	1	0	0	0	12061	1000	35	3	2038	3	PLEKHA7	11	16838834	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	9727793	16838834	118167682	55	1151											
CD44	960	broad.mit.edu	37	chr11	35227763	35227763	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcacaccccatgggaCgaggtcatcaagcaggaaga	14	5	10	12	1	3	1	3	0	1	1	4	4	3	3	2	3	1	1	2	3	3	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:35227763C>T	ENST00000428726.2	+	11	1510	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Nonsense_Mutation_p.R420*|CD44_ENST00000433354.2_Nonsense_Mutation_p.R464*|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.R463*|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Nonsense_Mutation_p.R420*|CD44_ENST00000360158.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	463	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CCCCATGGGACGAGGTCATCA	0.443																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1387-1389)Cga>Tga		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						200	170	180					11																	35227763		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227763C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1387C>T	11.37:g.35227763C>T	ENSP00000398632:p.Arg463*					CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.R420*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Nonsense_Mutation_p.R27*|CD44_uc010ret.2_Intron	p.R463*	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		10	1821	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	463			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.1387C>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185992|3.185992	0.57909|0.57909	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110|ENST00000526553	.|.	.|.	.|.	4.85|4.85	1.81|1.81	0.25067|0.25067	.|.	2.373210|.	0.01491|.	N|.	0.017089|.	.|T	.|0.30916	.|0.0780	.|.	.|.	.|.	0.27371|0.27371	N|N	0.9557|0.9557	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22871	.|-1.0204	.|4	0.02654|.	T|.	1|.	-6.1286|-6.1286	5.5014|5.5014	0.16831|0.16831	0.3526:0.5536:0.0:0.0938|0.3526:0.5536:0.0:0.0938	.|.	.|.	.|.	.|.	X|M	420;464;420;463;463;237;175|115	.|.	ENSP00000389830:R420X|.	R|T	+|+	1|2	2|0	CD44|CD44	35184339|35184339	0.535000|0.535000	0.26370|0.26370	0.323000|0.323000	0.25347|0.25347	0.002000|0.002000	0.02628|0.02628	0.666000|0.666000	0.25097|0.25097	0.288000|0.288000	0.22398|0.22398	-0.136000|-0.136000	0.14681|0.14681	CGA|ACG		0.443	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		T	35227763	C	T	35227763	4	4	17	1	0	0	0	0	0	1	0	0	3017	528	19	1	1429	1	CD44	11	35227763	Nonsense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	18388929	35227763	99778753	56	1152											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7	rs374191202		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0	0	5008	,	,		18843	0		0	False		,,,				2504	0.001					uc010rih.2																			3	Substitution - Missense(3)	p.R31H(4)|p.R31L(2)	prostate(2)|lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)cGt>cAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.							189	177	181					11																	55339695		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339695G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His						p.R31H	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			0	92	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.92G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		A	55339695	G	A	55339695	3	1	17	1	0	0	0	0	1	0	0	0	11049	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	20111932	55339695	79666821	57	1153											
FOLR1	2348	broad.mit.edu	37	chr11	71906672	71906672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggatcagagctggcGcaaagagcgggtactgaacg	11	5	16	9	3	1	3	1	1	0	2	1	4	1	4	1	4	4	3	1	4	3	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:71906672G>A	ENST00000393679.1	+	4	810	c.374G>A	c.(373-375)cGc>cAc	p.R125H	FOLR1_ENST00000393676.3_Missense_Mutation_p.R125H|FOLR1_ENST00000312293.4_Missense_Mutation_p.R125H|FOLR1_ENST00000393681.2_Missense_Mutation_p.R125H|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	125	Folate binding.				cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CAGAGCTGGCGCAAAGAGCGG	0.537																																						uc001orz.2																			0		p.R125C(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(373-375)cGc>cAc		Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.							69	62	65					11																	71906672		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906672G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.374G>A	11.37:g.71906672G>A	ENSP00000377284:p.Arg125His					FOLR1_uc001osa.2_Missense_Mutation_p.R125H|FOLR1_uc001osb.2_Missense_Mutation_p.R125H|FOLR1_uc001osd.2_Missense_Mutation_p.R125H	p.R125H	NM_016724	NP_057941	P15328	FOLR1_HUMAN			4	650	+			125					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.374G>A	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	18.79	3.699092	0.68501	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.45	4.54	0.55810	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	M	0.92555	3.32	0.50467	D	0.999879	D	0.69078	0.997	D	0.63033	0.91	D	0.90891	0.4761	10	0.54805	T	0.06	-17.1837	13.2718	0.60165	0.0774:0.0:0.9226:0.0	.	125	P15328	FOLR1_HUMAN	H	125	ENSP00000308137:R125H;ENSP00000377286:R125H;ENSP00000377284:R125H;ENSP00000377281:R125H	ENSP00000308137:R125H	R	+	2	0	FOLR1	71584320	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	7.215000	0.77966	1.430000	0.47334	-0.253000	0.11424	CGC		0.537	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		A	71906672	G	A	71906672	3	1	17	1	0	0	0	0	1	0	0	0	5981	1087	38	1	384	1	FOLR1	11	71906672	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	16566977	71906672	63099844	58	1154											
PIK3C2G	5288	broad.mit.edu	37	chr12	18576934	18576934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaacttctactccaccGctccttgcagagcatccagg	9	9	8	15	1	1	1	0	0	1	1	4	1	4	1	4	1	5	4	4	1	2	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:18576934G>A	ENST00000266497.5	+	16	2380	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R781H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R822H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	781	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R781H(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTACTCCACCGCTCCTTGCAG	0.428																																						uc001rdt.3																			1	Substitution - Missense(1)	p.R781H(2)	central_nervous_system(1)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2341-2343)cGc>cAc		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							74	69	71					12																	18576934		1880	4124	6004	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18576934G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2342G>A	12.37:g.18576934G>A	ENSP00000266497:p.Arg781His					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R600H	p.R781H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			16	2458	+		Hepatocellular(102;0.194)	781					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2342G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379441	0.82682	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.69175	-0.38;-0.38;-0.38	4.52	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.84428	0.5470	M	0.90369	3.11	0.50632	D	0.999884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87167	0.2218	10	0.72032	D	0.01	-13.9359	15.5695	0.76323	0.0:0.0:1.0:0.0	.	821;822;781	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	781;781;822	ENSP00000404845:R781H;ENSP00000266497:R781H;ENSP00000445381:R822H	ENSP00000266497:R781H	R	+	2	0	PIK3C2G	18468201	0.770000	0.28543	1.000000	0.80357	0.940000	0.58332	2.407000	0.44565	2.805000	0.96524	0.460000	0.39030	CGC		0.428	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18576934	G	A	18576934	3	1	17	1	0	0	0	0	1	0	0	0	11911	1087	38	1	2404	1	PIK3C2G	12	18576934	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		18576934	115274961	59	1155											
ABCD2	225	broad.mit.edu	37	chr12	40012537	40012538	+	Frame_Shift_Ins	INS	-	-	A																															tataattctcgagtgcacatINSaccgcaaatagccttttcta																										TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:40012537_40012538insA	ENST00000308666.3	-	1	1015_1016	c.880_881insT	c.(880-882)tatfs	p.Y294fs		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	294	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGAGTGCACATACCGCAAATAG	0.406																																						uc001rmb.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(880-882)tatfs		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.																																				SO:0001589	frameshift_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012537_40012538insA	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.881dupT	12.37:g.40012538_40012538dupA	ENSP00000310688:p.Tyr294fs						p.Y294fs	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			0	1306_1307	-			294			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Frame_Shift_Ins	INS	ENST00000308666.3	37	c.880_881insT	CCDS8734.1																																																																																				0.406	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		A	40012538	-	A	40012537	7	5	17	1	0	1	1	0	0	0	0	0	61	1406	49	0	1381	0	ABCD2	12	40012537	Frame_Shift_Ins	INS	-	TCGA-06-0137-01A-01D-1490-08	21435603	40012537	93839358	60	1156											
AMDHD1	144193	broad.mit.edu	37	chr12	96354263	96354263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaatggggaaatacaCgtggacaatatagacgtatt	16	8	12	5	2	0	2	0	0	0	2	0	4	0	4	0	4	1	2	0	4	7	5			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:96354263C>T	ENST00000266736.2	+	5	781	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	225					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGGAAATACACGTGGACAATA	0.413																																						uc001tel.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(673-675)caC>caT		Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.							129	119	122					12																	96354263		2203	4300	6503	SO:0001819	synonymous_variant	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354263C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.675C>T	12.37:g.96354263C>T						AMDHD1_uc009zth.2_Silent_p.H116H	p.H225H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN			4	781	+			225					A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	c.675C>T	CCDS9057.1																																																																																				0.413	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96354263	C	T	96354263	2	4	17	1	0	0	0	0	0	0	0	1	567	535	19	1		1	AMDHD1	12	96354263	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	56341726	96354263	37497632	61	1157											
DAO	1610	broad.mit.edu	37	chr12	109293195	109293195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactggcttccggccagtaCgcccccagattcggctagaa	9	7	11	14	3	0	2	0	0	0	2	2	3	1	2	4	3	2	3	4	3	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:109293195C>T	ENST00000228476.3	+	10	1060	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	DAO_ENST00000551281.1_Missense_Mutation_p.R220C	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	286					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CCGGCCAGTACGCCCCCAGAT	0.468																																						uc001tnr.4																			0		p.R286H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(856-858)Cgc>Tgc		Homo sapiens D-amino-acid oxidase (DAO), mRNA.							42	36	38					12																	109293195		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109293195C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.856C>T	12.37:g.109293195C>T	ENSP00000228476:p.Arg286Cys					DAO_uc001tnq.4_Missense_Mutation_p.R220C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	p.R286C	NM_001917	NP_001908	P14920	OXDA_HUMAN			9	1527	+			286					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.856C>T	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	c	16.06	3.014861	0.54468	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	T;T;T	0.81415	-1.49;-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95311	0.8412	10	0.87932	D	0	-18.7759	16.0921	0.81098	0.0:1.0:0.0:0.0	.	286;269	P14920;Q7Z312	OXDA_HUMAN;.	C	220;286;163	ENSP00000446853:R220C;ENSP00000228476:R286C;ENSP00000449967:R163C	ENSP00000228476:R286C	R	+	1	0	DAO	107817324	1.000000	0.71417	0.484000	0.27391	0.089000	0.18198	5.977000	0.70492	2.409000	0.81822	0.542000	0.68232	CGC		0.468	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			T	109293195	C	T	109293195	3	4	17	1	0	0	0	0	1	0	0	0	4231	536	19	1	890	1	DAO	12	109293195	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12938932	109293195	24558700	62	1158											
NOS1	4842	broad.mit.edu	37	chr12	117768667	117768667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtccaccaagggccGgccgttgaccgcaagaatga	10	5	13	13	3	1	3	1	2	0	1	2	3	2	3	5	3	0	3	5	3	3	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:117768667G>A	ENST00000338101.4	-	1	212	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	NOS1_ENST00000317775.6_Missense_Mutation_p.R70W|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.R70W			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACCAAGGGCCGGCCGTTGACC	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0		p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(208-210)Cgg>Tgg		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						37	41	40					12																	117768667		1993	4141	6134	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768667G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.208C>T	12.37:g.117768667G>A	ENSP00000337459:p.Arg70Trp					NOS1_uc001twm.2_Missense_Mutation_p.R70W	p.R70W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	1	919	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		70			Interaction with NOSIP (By similarity).|PDZ.			Missense_Mutation	SNP	ENST00000338101.4	37	c.208C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809362	0.70797	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.29142	1.58;1.58;1.58	4.91	3.03	0.35002	PDZ/DHR/GLGF (4);	0.170802	0.49916	D	0.000134	T	0.44435	0.1293	M	0.68952	2.095	0.41751	D	0.989665	D	0.71674	0.998	P	0.59056	0.851	T	0.37731	-0.9693	10	0.66056	D	0.02	-13.033	8.2843	0.31920	0.0772:0.0:0.4672:0.4555	.	70	P29475	NOS1_HUMAN	W	70	ENSP00000320758:R70W;ENSP00000339862:R70W;ENSP00000337459:R70W	ENSP00000320758:R70W	R	-	1	2	NOS1	116253050	1.000000	0.71417	0.974000	0.42286	0.934000	0.57294	2.962000	0.49176	0.617000	0.30160	0.555000	0.69702	CGG		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117768667	G	A	117768667	3	1	17	1	0	0	0	0	1	0	0	0	10541	1115	39	2	4208	2	NOS1	12	117768667	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	8475472	117768667	16083228	63	1159											
OR4N5	390437	broad.mit.edu	37	chr14	20612259	20612259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtgatggcctttgaccGctacatcgccatctgccggc	5	11	11	14	4	1	2	0	2	1	0	2	2	1	2	4	2	2	2	4	2	1	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:20612259G>A	ENST00000333629.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTTTGACCGCTACATCGCC	0.478																																						uc010tla.2																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.							157	153	154					14																	20612259		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612259G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.365G>A	14.37:g.20612259G>A	ENSP00000332110:p.Arg122His						p.R122H	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	365	+	all_cancers(95;0.00108)		122					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.365G>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157651	0.57368	.	.	ENSG00000184394	ENST00000333629	T	0.77489	-1.1	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	T	0.81178	0.4768	M	0.90019	3.08	0.43091	D	0.994769	B	0.19331	0.035	B	0.14023	0.01	T	0.83202	-0.0078	10	0.87932	D	0	.	13.985	0.64328	0.0:0.0:1.0:0.0	.	122	Q8IXE1	OR4N5_HUMAN	H	122	ENSP00000332110:R122H	ENSP00000332110:R122H	R	+	2	0	OR4N5	19682099	0.946000	0.32159	1.000000	0.80357	0.814000	0.46013	5.365000	0.66116	2.219000	0.72066	0.655000	0.94253	CGC		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			A	20612259	G	A	20612259	3	1	17	1	0	0	0	0	1	0	0	0	11079	1087	38	1	367	1	OR4N5	14	20612259	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		20612259	86737281	64	1160											
MYH6	4624	broad.mit.edu	37	chr14	23855760	23855760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctctgccagcttccgctCgatctctgccttgatctggt	3	15	8	15	2	3	1	0	1	3	0	7	2	4	1	3	1	3	2	3	1	0	3	rs371067114		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:23855760C>T	ENST00000356287.3	-	32	4752	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1575K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1575					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCGCTCGATCTCTGCC	0.647													C|||	1	0.000199681	0	0	5008	,	,		18157	0		0	False		,,,				2504	0.001					uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4723-4725)Gag>Aag		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	156	164	161		4723	4.3	1	14		161	0,8600		0,0,4300	no	missense	MYH6	NM_002471.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1575/1940	23855760	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855760C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4723G>A	14.37:g.23855760C>T	ENSP00000348634:p.Glu1575Lys						p.E1575K	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	32	4794	-	all_cancers(95;2.54e-05)		1575					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4723G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	33	5.242403	0.95272	2.27E-4	0.0	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84660	-1.88;-1.88	4.26	4.26	0.50523	Myosin tail (1);	.	.	.	.	D	0.88966	0.6581	M	0.83118	2.625	0.52099	D	0.999947	P	0.47910	0.902	P	0.47346	0.544	D	0.91588	0.5284	9	0.87932	D	0	.	17.0404	0.86488	0.0:1.0:0.0:0.0	.	1575	P13533	MYH6_HUMAN	K	1575	ENSP00000386041:E1575K;ENSP00000348634:E1575K	ENSP00000348634:E1575K	E	-	1	0	MYH6	22925600	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	6.005000	0.70716	2.052000	0.61016	0.561000	0.74099	GAG		0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23855760	C	T	23855760	3	4	17	1	0	0	0	0	1	0	0	0	10038	893	31	2	1124	2	MYH6	14	23855760	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	3243501	23855760	83493780	65	1161											
ATL1	51062	broad.mit.edu	37	chr14	51080061	51080061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaaattcttggaaaaaCgcctcaaggtttgttagata	13	12	9	7	1	2	1	1	0	1	1	2	2	2	2	2	2	2	2	2	2	6	5	rs119476046		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:51080061C>T	ENST00000358385.6	+	7	956	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ATL1_ENST00000357032.3_Missense_Mutation_p.R239C|ATL1_ENST00000354525.4_Missense_Mutation_p.R239C|ATL1_ENST00000441560.2_Missense_Mutation_p.R239C	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	239	GB1/RHD3-type G.		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology). {ECO:0000269|PubMed:11685207, ECO:0000269|PubMed:20718791, ECO:0000269|PubMed:20932283}.		axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGGAAAAACGCCTCAAGGT	0.353																																						uc021rsw.1																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18	GRCh37	CM013290	ATL1	M	rs119476046	c.(715-717)Cgc>Tgc		Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.							81	83	82					14																	51080061		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51080061C>T	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.715C>T	14.37:g.51080061C>T	ENSP00000351155:p.Arg239Cys					ATL1_uc001wyd.4_Missense_Mutation_p.R239C|ATL1_uc001wyf.4_Missense_Mutation_p.R239C|ATL1_uc001wye.4_Missense_Mutation_p.R239C|ATL1_uc021rsx.1_Missense_Mutation_p.R239C	p.R239C	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			6	956	+			239		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.715C>T	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856193	0.51376	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.27	4.38	0.52667	Guanylate-binding protein, N-terminal (1);	0.091324	0.64402	N	0.000001	T	0.57066	0.2028	M	0.78285	2.405	0.80722	A	1	P;P	0.41910	0.764;0.696	B;B	0.40864	0.342;0.232	T	0.70938	-0.4736	9	0.52906	T	0.07	-1.2288	7.8214	0.29290	0.2684:0.6542:0.0:0.0774	.	239;239	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	C	239	ENSP00000413675:R239C;ENSP00000351155:R239C;ENSP00000349534:R239C;ENSP00000346522:R239C	ENSP00000346522:R239C	R	+	1	0	ATL1	50149811	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.407000	0.44565	1.358000	0.45922	0.561000	0.74099	CGC		0.353	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			T	51080061	C	T	51080061	3	4	17	1	0	0	0	0	1	0	0	0	1106	536	19	1	741	1	ATL1	14	51080061	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	27224301	51080061	56269479	66	1162											
CLMN	79789	broad.mit.edu	37	chr14	95677055	95677055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagcctggggatgtgcaggGcatcctgtgcgatgctgaaa	8	8	17	8	1	0	1	0	1	0	0	1	4	1	3	2	4	4	3	2	4	1	0	rs374926969		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:95677055G>A	ENST00000298912.4	-	7	883	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	257	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATGTGCAGGGCATCCTGTGC	0.483																																						uc001yef.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(769-771)gCc>gTc		Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	122	118	119		770	0.7	0.3	14		119	0,8600		0,0,4300	no	missense	CLMN	NM_024734.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	257/1003	95677055	1,13005	2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95677055G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.770C>T	14.37:g.95677055G>A	ENSP00000298912:p.Ala257Val						p.A257V	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	6	886	-			257			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.770C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695559	0.48202	2.27E-4	0.0	ENSG00000165959	ENST00000298912	D	0.95137	-3.62	6.03	0.74	0.18330	Calponin homology domain (5);	0.882556	0.09420	N	0.804590	D	0.87609	0.6220	N	0.12961	0.28	0.09310	N	1	P	0.40360	0.714	B	0.43990	0.438	T	0.80346	-0.1421	10	0.46703	T	0.11	.	1.1332	0.01749	0.164:0.2048:0.345:0.2862	.	257	Q96JQ2	CLMN_HUMAN	V	257	ENSP00000298912:A257V	ENSP00000298912:A257V	A	-	2	0	CLMN	94746808	0.002000	0.14202	0.326000	0.25389	0.939000	0.58152	1.000000	0.29770	0.430000	0.26230	-0.175000	0.13238	GCC		0.483	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			A	95677055	G	A	95677055	3	1	17	1	0	0	0	0	1	0	0	0	3542	1203	42	3	2266	3	CLMN	14	95677055	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	44596994	95677055	11672485	67	1163											
RYR3	6263	broad.mit.edu	37	chr15	33895522	33895522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaatggtgttggtgaCgacctgtactcctatggctt	7	12	14	8	1	0	1	0	1	0	0	1	3	1	2	2	5	1	4	2	5	3	4	rs369220734		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:33895522C>T	ENST00000389232.4	+	18	2191	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	RYR3_ENST00000415757.3_Silent_p.D707D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	707	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D707D(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGTTGGTGACGACCTGTACT	0.537																																						uc001zhi.3																			1	Substitution - coding silent(1)	p.D707D(2)	central_nervous_system(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(2119-2121)gaC>gaT		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.		T		0,4274		0,0,2137	244	255	251		2121	0.6	0.9	15		251	1,8481		0,1,4240	no	coding-synonymous	RYR3	NM_001036.3		0,1,6377	TT,TC,CC		0.0118,0.0,0.0078		707/4871	33895522	1,12755	2137	4241	6378	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895522C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2121C>T	15.37:g.33895522C>T						RYR3_uc010bar.3_Silent_p.D707D	p.D707D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	17	2191	+		all_lung(180;7.18e-09)	707			B30.2/SPRY 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.2121C>T	CCDS45210.1																																																																																				0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33895522	C	T	33895522	2	4	17	1	0	0	0	0	0	0	0	1	13770	535	19	1		1	RYR3	15	33895522	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		33895522	68635870	68	1164											
PLCB2	5330	broad.mit.edu	37	chr15	40583828	40583828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagcttctttcatagcctCttccctggccccggccctgg	3	11	9	18	2	3	0	1	0	2	0	4	0	4	0	5	3	2	2	5	3	1	4	rs373846576		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:40583828C>T	ENST00000260402.3	-	25	2875	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	PLCB2_ENST00000557821.1_Missense_Mutation_p.E872K|PLCB2_ENST00000456256.2_Intron	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	876					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCATAGCCTCTTCCCTGGCC	0.706																																						uc001zld.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2626-2628)Gag>Aag		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.							24	29	27					15																	40583828		1884	4101	5985	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40583828C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2626G>A	15.37:g.40583828C>T	ENSP00000260402:p.Glu876Lys					PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E872K|PLCB2_uc010ucm.2_Intron	p.E876K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	24	2927	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	876					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2626G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960061	0.53400	.	.	ENSG00000137841	ENST00000260402	T	0.23348	1.91	3.84	3.84	0.44239	.	2.236000	0.01973	N	0.044227	T	0.29914	0.0748	L	0.43923	1.385	0.80722	D	1	B;B	0.23249	0.082;0.001	B;B	0.25291	0.059;0.006	T	0.16837	-1.0389	10	0.56958	D	0.05	.	11.4391	0.50086	0.0:1.0:0.0:0.0	.	872;876	Q00722-2;Q00722	.;PLCB2_HUMAN	K	876	ENSP00000260402:E876K	ENSP00000260402:E876K	E	-	1	0	PLCB2	38371120	0.091000	0.21658	0.226000	0.23910	0.143000	0.21401	2.564000	0.45931	2.140000	0.66376	0.491000	0.48974	GAG		0.706	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			T	40583828	C	T	40583828	3	4	17	1	0	0	0	0	1	0	0	0	12028	922	32	3	963	3	PLCB2	15	40583828	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	6688306	40583828	61947564	69	1165											
A2BP1	54715	broad.mit.edu	37	chr16	7726795	7726795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggttatgctgcataccGctacgcccagcctacccctg	6	9	11	15	2	0	0	0	0	0	0	0	0	0	0	5	2	6	4	5	2	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:7726795G>A	ENST00000550418.1	+	14	1938	c.950G>A	c.(949-951)cGc>cAc	p.R317H	RBFOX1_ENST00000547372.1_Missense_Mutation_p.R360H|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R274H|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R317H|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R322H|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R290H|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R338H|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R334H|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R338H|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R360H|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R338H	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	317					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCTGCATACCGCTACGCCCAG	0.517																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(949-951)cGc>cAc		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.							199	137	158					16																	7726795		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7726795G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.950G>A	16.37:g.7726795G>A	ENSP00000450031:p.Arg317His					RBFOX1_uc002cyt.2_Missense_Mutation_p.R290H|RBFOX1_uc010uxz.1_Missense_Mutation_p.R360H|RBFOX1_uc010uya.1_Missense_Mutation_p.R274H|RBFOX1_uc010uyb.1_Missense_Mutation_p.R317H|RBFOX1_uc002cyw.2_Missense_Mutation_p.R338H|RBFOX1_uc002cyy.2_Missense_Mutation_p.R338H|RBFOX1_uc002cyx.2_Missense_Mutation_p.R338H|RBFOX1_uc010uyc.1_Missense_Mutation_p.R311H	p.R317H	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			13	1938	+			317					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.950G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817076	0.90790	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.41;1.17;1.41;1.11;1.24;1.42;1.3;1.11	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.68952	2.095	0.53005	D	0.999969	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.984;1.0;0.997;0.994;0.984;0.979;0.997	T	0.55003	-0.8208	10	0.20046	T	0.44	-9.973	19.2201	0.93793	0.0:0.0:1.0:0.0	.	311;274;360;338;338;338;290;317	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1	.;.;.;.;.;.;.;RFOX1_HUMAN	H	317;290;360;360;274;334;317;338;338;338;311;322	ENSP00000450031:R317H;ENSP00000447753:R290H;ENSP00000446842:R360H;ENSP00000391269:R360H;ENSP00000447717:R317H;ENSP00000402745:R338H;ENSP00000309117:R338H;ENSP00000347855:R338H;ENSP00000344196:R322H	ENSP00000309117:R338H	R	+	2	0	RBFOX1	7666796	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.331000	0.79192	2.702000	0.92279	0.650000	0.86243	CGC		0.517	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7726795	G	A	7726795	3	1	17	1	0	0	0	0	1	0	0	0	3	1087	38	1	1130	1	A2BP1	16	7726795	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		7726795	82627958	70	1166											
ACSM3	6296	broad.mit.edu	37	chr16	20787173	20787173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctcaggctggaaagaaaCcttcaaatccagccttctgg	11	10	8	12	0	3	1	2	0	1	1	5	2	5	2	4	3	2	1	4	3	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:20787173C>A	ENST00000289416.5	+	3	707	c.232C>A	c.(232-234)Cct>Act	p.P78T	ACSM3_ENST00000440284.2_Missense_Mutation_p.P78T|ACSM3_ENST00000450120.2_Missense_Mutation_p.P33T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	78					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGAAAGAAACCTTCAAATCC	0.403																																						uc010vba.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(208-210)Cct>Act		Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.							107	118	114					16																	20787173		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787173C>A	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.232C>A	16.37:g.20787173C>A	ENSP00000289416:p.Pro78Thr					ACSM3_uc002dhq.3_Missense_Mutation_p.P78T|ACSM3_uc002dhr.3_Missense_Mutation_p.P78T	p.P70T	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			1	283	+			78					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.208C>A	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564588	0.45694	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.60672	0.17;0.17;0.17	6.08	5.14	0.70334	.	0.257949	0.40144	N	0.001166	T	0.58581	0.2132	L	0.56769	1.78	0.23869	N	0.996614	B;B;B	0.27971	0.196;0.037;0.18	B;B;B	0.40256	0.089;0.049;0.324	T	0.58375	-0.7647	10	0.62326	D	0.03	-0.2175	7.7707	0.29006	0.1331:0.7324:0.0:0.1345	.	33;78;78	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	T	78;78;33	ENSP00000289416:P78T;ENSP00000394565:P78T;ENSP00000395297:P33T	ENSP00000289416:P78T	P	+	1	0	ACSM3	20694674	0.006000	0.16342	0.959000	0.39883	0.991000	0.79684	-0.030000	0.12308	1.594000	0.50039	-0.218000	0.12543	CCT		0.403	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		A	20787173	C	A	20787173	3	1	17	1	0	0	0	0	1	0	0	0	185	507	18	5	238	5	ACSM3	16	20787173	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	13060378	20787173	69567580	71	1167											
ITGAM	3684	broad.mit.edu	37	chr16	31338227	31338227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaggcttcccttggaaaCaaactgctcctcaaggccaa	12	9	7	13	0	2	0	1	0	1	0	4	1	4	1	3	3	3	2	3	3	5	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:31338227C>A	ENST00000287497.8	+	22	2754	c.2679C>A	c.(2677-2679)aaC>aaA	p.N893K	ITGAM_ENST00000544665.3_Missense_Mutation_p.N894K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	893					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCTTGGAAACAAACTGCTCC	0.512																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(2680-2682)aaC>aaA		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							190	180	184					16																	31338227		1944	4146	6090	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31338227C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2679C>A	16.37:g.31338227C>A	ENSP00000287497:p.Asn893Lys					ITGAM_uc002ebq.3_Missense_Mutation_p.N893K|ITGAM_uc010can.3_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	p.N894K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			21	2780	+			893					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2682C>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804125	0.70682	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.44482	0.92;0.92	5.5	-3.07	0.05363	Integrin alpha-2 (1);	.	.	.	.	T	0.37919	0.1021	M	0.66506	2.035	0.09310	N	0.999998	B;B;B	0.31790	0.205;0.34;0.34	B;B;B	0.39152	0.292;0.156;0.156	T	0.47661	-0.9100	9	0.62326	D	0.03	.	1.2374	0.01955	0.2222:0.365:0.2165:0.1963	.	299;893;893	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	K	894;893	ENSP00000441691:N894K;ENSP00000287497:N893K	ENSP00000287497:N893K	N	+	3	2	ITGAM	31245728	0.045000	0.20229	0.003000	0.11579	0.990000	0.78478	0.063000	0.14410	-0.903000	0.03881	0.446000	0.29264	AAC		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31338227	C	A	31338227	3	1	17	1	0	0	0	0	1	0	0	0	7887	477	17	5	2768	5	ITGAM	16	31338227	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	10551054	31338227	59016526	72	1168											
RRAD	6236	broad.mit.edu	37	chr16	66957764	66957764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacctgctcccaaatgtcGtagaccatgagtgatgcctc	9	10	8	14	1	0	3	0	2	0	1	3	3	1	3	5	0	3	2	5	0	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:66957764G>A	ENST00000299759.6	-	3	679	c.429C>T	c.(427-429)taC>taT	p.Y143Y	RRAD_ENST00000420652.1_Silent_p.Y143Y			P55042	RAD_HUMAN	Ras-related associated with diabetes	143					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCAAATGTCGTAGACCATGA	0.582																																						uc002eqn.2																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(427-429)taC>taT		Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.							235	223	227					16																	66957764		2200	4300	6500	SO:0001819	synonymous_variant	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957764G>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.429C>T	16.37:g.66957764G>A						RRAD_uc002eqo.2_Silent_p.Y143Y	p.Y143Y	NM_001128850	NP_004156	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	2	581	-		Ovarian(137;0.192)	143					Q96F39	Silent	SNP	ENST00000299759.6	37	c.429C>T	CCDS10824.1																																																																																				0.582	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		A	66957764	G	A	66957764	2	1	17	1	0	0	0	0	0	0	0	1	13671	1140	40	1		1	RRAD	16	66957764	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	35619537	66957764	23396989	73	1169											
CHST5	23563	broad.mit.edu	37	chr16	75564091	75564091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaggacagcaccagcacGtgcacacgatcctcgccgcc	10	3	10	18	5	0	0	0	0	0	0	2	3	1	1	4	1	3	3	4	1	0	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:75564091G>A	ENST00000336257.3	-	3	1586	c.192C>T	c.(190-192)caC>caT	p.H64H	CHST5_ENST00000541075.1_Silent_p.H70H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	64					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACCAGCACGTGCACACGAT	0.657																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(208-210)caC>caT		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							40	35	37					16																	75564091		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564091G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.192C>T	16.37:g.75564091G>A						CHST5_uc002fei.3_Silent_p.H64H|CHST5_uc021tlk.1_Silent_p.H64H	p.H70H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	531	-			64					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.210C>T	CCDS10919.1																																																																																				0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		A	75564091	G	A	75564091	2	1	17	1	0	0	0	0	0	0	0	1	3407	1136	40	1		1	CHST5	16	75564091	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	8606327	75564091	14790662	74	1170											
KIF2B	84643	broad.mit.edu	37	chr17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagggaccagcgtaccGccacgaaatgggttgcgatg	10	6	13	12	4	1	0	1	0	0	0	1	3	1	1	4	2	3	2	4	2	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:51900728G>A	ENST00000268919.4	+	1	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	112			A -> V (in dbSNP:rs3803824). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(334-336)Gcc>Acc		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							78	83	81					17																	51900728		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900728G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.334G>A	17.37:g.51900728G>A	ENSP00000268919:p.Ala112Thr					KIF2B_uc010wna.1_Non-coding_Transcript	p.A112T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	490	+			112		A -> V (in dbSNP:rs3803824).			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.334G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432467	0.04669	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	4.99	-0.787	0.10943	.	0.344162	0.20835	N	0.084805	T	0.45736	0.1357	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20273	-1.0280	10	0.12103	T	0.63	.	4.4214	0.11482	0.2273:0.0:0.5024:0.2703	.	112	Q8N4N8	KIF2B_HUMAN	T	112;35	ENSP00000268919:A112T	ENSP00000268919:A112T	A	+	1	0	KIF2B	49255727	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.319000	0.08039	0.091000	0.17302	-0.137000	0.14449	GCC		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		A	51900728	G	A	51900728	3	1	17	1	0	0	0	0	1	0	0	0	8298	1087	38	1	336	1	KIF2B	17	51900728	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		51900728	29294482	75	1171											
UTS2R	2837	broad.mit.edu	37	chr17	80332605	80332605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttcctgaccatgcaCgccagcatcttcacgctgac	8	9	8	16	2	2	2	1	2	1	0	3	3	3	3	3	1	2	3	3	1	0	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:80332605C>T	ENST00000313135.2	+	1	453	c.405C>T	c.(403-405)caC>caT	p.H135H		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	135					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGACCATGCACGCCAGCATCT	0.662																																						uc010wvl.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(403-405)caC>caT		Homo sapiens urotensin 2 receptor (UTS2R), mRNA.							50	40	43					17																	80332605		2203	4300	6503	SO:0001819	synonymous_variant	2837					integral to membrane|plasma membrane		g.chr17:80332605C>T	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.405C>T	17.37:g.80332605C>T							p.H135H	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		0	405	+	Breast(20;0.00106)|all_neural(118;0.0804)		135					B2RMV8	Silent	SNP	ENST00000313135.2	37	c.405C>T	CCDS11810.1																																																																																				0.662	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		T	80332605	C	T	80332605	2	4	17	1	0	0	0	0	0	0	0	1	17103	535	19	1		1	UTS2R	17	80332605	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	28431877	80332605	862605	76	1172											
POTEC	388468	broad.mit.edu	37	chr18	14537857	14537857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgctttggccattaatttAtcttcattgtggacagcata	10	16	8	7	0	2	0	1	0	1	0	2	1	2	1	1	2	2	2	1	2	3	7			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:14537857A>G	ENST00000358970.5	-	3	752	c.753T>C	c.(751-753)gaT>gaC	p.D251D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	251										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATTAATTTATCTTCATTGT	0.343																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(751-753)gaT>gaC		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							321	247	269					18																	14537857		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14537857A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.753T>C	18.37:g.14537857A>G						POTEC_uc010xaj.2_Non-coding_Transcript	p.D251D	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			2	1207	-			251						Silent	SNP	ENST00000358970.5	37	c.753T>C	CCDS45835.1																																																																																				0.343	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14537857	A	G	14537857	2	3	17	1	0	0	0	0	0	0	0	1	12262	446	16	4		4	POTEC	18	14537857	Silent	SNP	A	TCGA-06-0137-01A-01D-1490-08		14537857	63539391	77	1173											
CDH20	28316	broad.mit.edu	37	chr18	59158011	59158011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagagtacactgggacCgaccctttgtatgtcggcaa	10	9	12	10	2	0	1	0	0	0	1	1	4	0	3	2	3	1	3	2	3	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:59158011C>T	ENST00000262717.4	+	2	623	c.225C>T	c.(223-225)acC>acT	p.T75T	CDH20_ENST00000538374.1_Silent_p.T75T|CDH20_ENST00000536675.2_Silent_p.T75T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACACTGGGACCGACCCTTTGT	0.448																																						uc010dps.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(223-225)acC>acT		Homo sapiens cadherin 20, type 2 (CDH20), mRNA.							125	125	125					18																	59158011		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59158011C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.225C>T	18.37:g.59158011C>T						CDH20_uc002lif.2_Silent_p.T69T	p.T75T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			0	377	+		Colorectal(73;0.186)	75			Cadherin 1.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.225C>T	CCDS11977.1																																																																																				0.448	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		T	59158011	C	T	59158011	2	4	17	1	0	0	0	0	0	0	0	1	3106	639	23	2		2	CDH20	18	59158011	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	44620154	59158011	18919237	78	1174											
FBXO15	201456	broad.mit.edu	37	chr18	71790685	71790685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatggagttggtagccGtgcagtccatactcggggct	8	10	13	10	2	1	0	1	0	0	0	3	1	2	1	2	4	4	4	2	4	3	3	rs573445550		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:71790685G>A	ENST00000419743.2	-	8	1135	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_ENST00000269500.5_Silent_p.H276H	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	352						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		14837	0		0	False		,,,				2504	0					uc002llf.2																			0		p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1054-1056)caC>caT		Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.							78	72	74					18																	71790685		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71790685G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1056C>T	18.37:g.71790685G>A						FBXO15_uc002lle.2_Silent_p.H276H	p.H352H	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	7	1136	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	276					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1056C>T	CCDS45884.1																																																																																				0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		A	71790685	G	A	71790685	2	1	17	1	0	0	0	0	0	0	0	1	5728	1136	40	1		1	FBXO15	18	71790685	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	12632674	71790685	6286563	79	1175											
RFX2	5990	broad.mit.edu	37	chr19	5997146	5997146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtagaacatgtactcGtcgtagagcaggcggatgag	12	7	14	8	3	0	3	0	1	0	2	2	4	0	4	1	3	3	4	1	3	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:5997146G>A	ENST00000303657.5	-	16	2087	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.D646D|RFX2_ENST00000592546.1_Silent_p.D621D	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACATGTACTCGTCGTAGAGCA	0.662																																					Colon(38;171 817 19800 47433 48051)	uc002meb.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1936-1938)gaC>gaT		Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.							85	66	73					19																	5997146		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:5997146G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1938C>T	19.37:g.5997146G>A						RFX2_uc002mec.3_Silent_p.D621D	p.D646D	NM_000635	NP_000626	P48378	RFX2_HUMAN			15	2207	-			646					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.1938C>T	CCDS12157.1																																																																																				0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		A	5997146	G	A	5997146	2	1	17	1	0	0	0	0	0	0	0	1	13263	1136	40	1		1	RFX2	19	5997146	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		5997146	53131837	80	1176											
PRKCSH	5589	broad.mit.edu	37	chr19	11559740	11559740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacagatacgtctaccGcctctgccccttcaagcttg	7	10	6	18	2	3	1	1	0	2	1	4	1	4	1	6	0	4	1	6	0	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11559740G>A	ENST00000589838.1	+	14	1277	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PRKCSH_ENST00000587327.1_Missense_Mutation_p.R423H|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R423H|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R423H|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R426H|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R433H			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	426	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TACGTCTACCGCCTCTGCCCC	0.647																																						uc010xlz.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1297-1299)cGc>cAc		Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.							105	110	109					19																	11559740		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559740G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1277G>A	19.37:g.11559740G>A	ENSP00000465461:p.Arg426His					PRKCSH_uc002mrt.3_Missense_Mutation_p.R426H|PRKCSH_uc002mru.3_Missense_Mutation_p.R423H|PRKCSH_uc010dyb.3_Missense_Mutation_p.R423H	p.R433H	NM_002743	NP_002734	P14314	GLU2B_HUMAN			14	1634	+			426			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1298G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976105	0.53720	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.83250	-1.7;-1.7	5.23	1.86	0.25419	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.118609	0.52532	D	0.000069	D	0.85801	0.5781	L	0.52364	1.645	0.43588	D	0.995933	D;D;D;D	0.89917	1.0;1.0;0.987;1.0	D;D;P;D	0.81914	0.992;0.995;0.65;0.995	T	0.83082	-0.0137	10	0.62326	D	0.03	-31.1233	7.7845	0.29085	0.1527:0.1343:0.713:0.0	.	433;433;423;426	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	H	426;423	ENSP00000252455:R426H;ENSP00000395616:R423H	ENSP00000252455:R426H	R	+	2	0	PRKCSH	11420740	1.000000	0.71417	0.975000	0.42487	0.303000	0.27691	4.684000	0.61686	0.203000	0.20529	-0.176000	0.13171	CGC		0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11559740	G	A	11559740	3	1	17	1	0	0	0	0	1	0	0	0	12516	1087	38	1	1352	1	PRKCSH	19	11559740	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5562594	11559740	47569243	81	1177											
ZNF491	126069	broad.mit.edu	37	chr19	11917007	11917007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatataaacataaacaacGtaggaaagccttgagccata	18	7	7	9	1	0	1	0	1	0	0	0	2	0	2	3	1	5	1	3	1	9	6	rs375933257		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11917007G>A	ENST00000323169.5	+	3	570	c.239G>A	c.(238-240)cGt>cAt	p.R80H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CATAAACAACGTAGGAAAGCC	0.378																																						uc002mso.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(238-240)cGt>cAt		Homo sapiens zinc finger protein 491 (ZNF491), mRNA.		G	HIS/ARG	0,4404		0,0,2202	49	50	50		239	0.9	0	19		50	1,8597		0,1,4298	no	missense	ZNF491	NM_152356.3	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	80/438	11917007	1,13001	2202	4299	6501	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917007G>A	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.239G>A	19.37:g.11917007G>A	ENSP00000313443:p.Arg80His					ZNF491_uc021upj.1_Missense_Mutation_p.R80H	p.R80H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			2	524	+			80					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.239G>A	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	7.959	0.746494	0.15710	0.0	1.16E-4	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.27720	1.65;3.39	0.904	0.904	0.19302	.	.	.	.	.	T	0.15522	0.0374	N	0.12182	0.205	0.09310	N	1	B	0.16396	0.017	B	0.01281	0.0	T	0.21280	-1.0250	9	0.87932	D	0	.	5.1324	0.14917	0.0:0.0:1.0:0.0	.	80	Q8N8L2	ZN491_HUMAN	H	80	ENSP00000313443:R80H;ENSP00000392176:R80H	ENSP00000313443:R80H	R	+	2	0	ZNF491	11778007	0.999000	0.42202	0.011000	0.14972	0.012000	0.07955	2.915000	0.48805	0.784000	0.33661	0.505000	0.49811	CGT		0.378	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		A	11917007	G	A	11917007	3	1	17	1	0	0	0	0	1	0	0	0	17939	1145	40	1	241	1	ZNF491	19	11917007	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	357267	11917007	47211976	82	1178											
HSH2D	84941	broad.mit.edu	37	chr19	16259656	16259656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccaagacggggtcccCgagtggttccatggtgcaat	7	8	14	12	2	0	1	0	0	0	1	2	2	2	1	4	5	1	2	4	5	2	1	rs77723805		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:16259656C>T	ENST00000253680.6	+	4	627	c.96C>T	c.(94-96)ccC>ccT	p.P32P	HSH2D_ENST00000593154.2_Silent_p.P32P|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Silent_p.P32P			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	32					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGGGGTCCCCGAGTGGTTCC	0.637																																						uc002ndp.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(94-96)ccC>ccT		Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.		C		0,3908		0,0,1954	52	59	56		96	-2.9	0	19	dbSNP_131	56	1,8237		0,1,4118	no	coding-synonymous	HSH2D	NM_032855.2		0,1,6072	TT,TC,CC		0.0121,0.0,0.0082		32/353	16259656	1,12145	1954	4119	6073	SO:0001819	synonymous_variant	84941					cytoplasm|nucleus		g.chr19:16259656C>T	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.96C>T	19.37:g.16259656C>T						HSH2D_uc002ndr.3_5'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	p.P32P	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN			3	627	+			32					B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37	c.96C>T																																																																																					0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16259656	C	T	16259656	2	4	17	1	0	0	0	0	0	0	0	1	7400	639	23	2		2	HSH2D	19	16259656	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	4342649	16259656	42869327	83	1179											
LYPD4	147719	broad.mit.edu	37	chr19	42341249	42341249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacaggaggcctaagaCgacaccccaagcaggatctt	14	4	11	12	1	1	1	0	0	1	1	1	4	1	3	3	4	2	2	3	4	3	2	rs375302712		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:42341249C>T	ENST00000330743.3	-	5	1920	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	LYPD4_ENST00000601246.1_Missense_Mutation_p.V202I|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Missense_Mutation_p.V202I	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	237						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGGCCTAAGACGACACCCCAA	0.483																																						uc002orp.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(709-711)Gtc>Atc		Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.		C	ILE/VAL	0,4406		0,0,2203	126	116	119		709	-0.4	0	19		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYPD4	NM_173506.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	237/247	42341249	1,13005	2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42341249C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.709G>A	19.37:g.42341249C>T	ENSP00000328737:p.Val237Ile					LYPD4_uc002orq.1_Missense_Mutation_p.V202I	p.V237I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			4	1693	-			237					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.709G>A	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	c	5.965	0.362093	0.11296	0.0	1.16E-4	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.11604	3.42;2.76	4.28	-0.379	0.12493	.	0.526354	0.16112	N	0.229032	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34204	-0.9838	10	0.45353	T	0.12	-5.8436	1.4101	0.02289	0.1927:0.17:0.463:0.1743	.	202;237	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	I	237;202	ENSP00000328737:V237I;ENSP00000339568:V202I	ENSP00000328737:V237I	V	-	1	0	LYPD4	47033089	0.671000	0.27521	0.018000	0.16275	0.031000	0.12232	0.559000	0.23485	0.060000	0.16281	-0.946000	0.02672	GTC		0.483	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		T	42341249	C	T	42341249	3	4	17	1	0	0	0	0	1	0	0	0	9112	536	19	1	35	1	LYPD4	19	42341249	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	26081593	42341249	16787734	84	1180											
PSG7	5676	broad.mit.edu	37	chr19	43430081	43430081	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaattgtccaagaatactGtgccggtgggttagagtccg	10	12	12	7	2	0	2	0	0	0	2	2	2	2	2	3	2	2	1	3	2	5	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:43430081G>C	ENST00000406070.2	-	0	1183				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CAAGAATACTGTGCCGGTGGG	0.458																																						uc002ovl.4																			0											c.(1084-1086)Cag>Gag		Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.							168	178	174					19																	43430081		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430081G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430081G>C						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.Q241E	p.Q362E	NM_002783	NP_002774	Q13046	PSG7_HUMAN			5	1186	-		Prostate(69;0.00682)	363			Ig-like C2-type 3.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.1084C>G																																																																																					0.458	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		C	43430081	G	C	43430081	1	2	17	0	1	0	0	0	0	0	0	0	12660	1386	48	5		5	PSG7	19	43430081	RNA	SNP	G	TCGA-06-0137-01A-01D-1490-08	1088832	43430081	15698902	85	1181											
LILRB1	10859	broad.mit.edu	37	chr19	55143564	55143564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccgtgggtcgtcccgCgccatcttctccgtgggccc	2	9	12	18	5	2	0	0	0	2	0	5	0	3	0	5	2	1	0	5	2	0	1	rs532278161		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:55143564C>T	ENST00000396331.1	+	6	894	c.537C>T	c.(535-537)cgC>cgT	p.R179R	LILRB1_ENST00000396327.3_Silent_p.R179R|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000434867.2_Silent_p.R179R|LILRB1_ENST00000324602.7_Silent_p.R179R|LILRB1_ENST00000418536.2_Silent_p.R179R|LILRB1_ENST00000396317.1_Silent_p.R179R|LILRB1_ENST00000396321.2_Silent_p.R179R|LILRB1_ENST00000448689.1_Silent_p.R179R|LILRB1_ENST00000396315.1_Silent_p.R179R|LILRB1_ENST00000396332.4_Silent_p.R179R|LILRB1_ENST00000427581.2_Silent_p.R215R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	179	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(535-537)cgC>cgT		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							129	126	127					19																	55143564		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143564C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.537C>T	19.37:g.55143564C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.R179R|LILRB1_uc002qgk.3_Silent_p.R179R|LILRB1_uc002qgm.3_Silent_p.R179R|LILRB1_uc010erq.3_Silent_p.R179R|LILRB1_uc010err.3_Non-coding_Transcript	p.R179R	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	877	+			179			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.537C>T	CCDS42617.1																																																																																				0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			T	55143564	C	T	55143564	2	4	17	1	0	0	0	0	0	0	0	1	8790	755	27	1		1	LILRB1	19	55143564	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	11713483	55143564	3985419	86	1182											
C20orf54	113278	broad.mit.edu	37	chr20	744504	744504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgctggaggacaaagaaCgccacgaggcagcaggccat	13	3	14	11	3	0	2	0	1	0	1	0	5	0	4	2	4	2	3	2	4	2	0	rs183391382	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:744504C>T	ENST00000217254.7	-	3	952	c.711G>A	c.(709-711)gcG>gcA	p.A237A	SLC52A3_ENST00000381944.3_Silent_p.A237A|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	237					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGACAAAGAACGCCACGAGGC	0.617													C|||	2	0.000399361	8e-04	0	5008	,	,		20023	0		0.001	False		,,,				2504	0					uc002wed.4																			0											c.(709-711)gcG>gcA		Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.							79	72	74					20																	744504		2203	4300	6503	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744504C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.711G>A	20.37:g.744504C>T						SLC52A3_uc002wee.2_Silent_p.A237A	p.A237A	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	1050	-			237					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.711G>A	CCDS13007.1																																																																																				0.617	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		T	744504	C	T	744504	2	4	17	1	0	0	0	0	0	0	0	1	2114	523	19	1		1	C20orf54	20	744504	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		744504	62281016	87	1183											
C20orf152	140894	broad.mit.edu	37	chr20	34571988	34571988	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcacagttgcaataacCaaggacgaggatggcagcag	13	5	14	9	1	0	0	0	0	0	0	0	3	0	2	1	4	3	5	1	4	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:34571988C>A	ENST00000373973.3	+	5	665	c.492C>A	c.(490-492)acC>acA	p.T164T	CNBD2_ENST00000538900.1_Silent_p.T164T|CNBD2_ENST00000349339.1_Silent_p.T164T			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	164																	TTGCAATAACCAAGGACGAGG	0.532																																						uc002xer.1																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(490-492)acC>acA		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.							136	110	119					20																	34571988		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34571988C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.492C>A	20.37:g.34571988C>A						C20orf152_uc002xes.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron	p.T164T	NM_080834	NP_543024	Q96M20	CT152_HUMAN			4	648	+	Breast(12;0.00631)		164					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.492C>A																																																																																					0.532	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34571988	C	A	34571988	2	1	17	1	0	0	0	0	0	0	0	1	2092	581	21	5		5	C20orf152	20	34571988	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	33827484	34571988	28453532	88	1184											
KCNG1	3755	broad.mit.edu	37	chr20	49620775	49620775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaggccatgagcaggatgCcgctcaggatgctgctcagg	9	6	16	10	1	2	1	2	1	0	0	2	4	2	4	2	5	4	4	2	5	1	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:49620775C>T	ENST00000371571.4	-	3	1628	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	448					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.G448D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGCAGGATGCCGCTCAGGAT	0.622																																						uc002xwa.4																			1	Substitution - Missense(1)	p.G448D(2)	kidney(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1342-1344)gGc>gAc		Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.							101	88	93					20																	49620775		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620775C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1343G>A	20.37:g.49620775C>T	ENSP00000360626:p.Gly448Asp						p.G448D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	1638	-			448					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1343G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347998	0.82132	.	.	ENSG00000026559	ENST00000371571	D	0.98996	-5.31	5.46	4.51	0.55191	Ion transport (1);	0.045487	0.85682	N	0.000000	D	0.99609	0.9858	H	0.99130	4.44	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97492	1.0054	9	.	.	.	.	13.9943	0.64386	0.0:0.9266:0.0:0.0734	.	448	Q9UIX4	KCNG1_HUMAN	D	448	ENSP00000360626:G448D	.	G	-	2	0	KCNG1	49054182	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	1.305000	0.44909	0.456000	0.33151	GGC		0.622	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		T	49620775	C	T	49620775	3	4	17	1	0	0	0	0	1	0	0	0	8027	739	26	3	202	3	KCNG1	20	49620775	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	15048787	49620775	13404745	89	1185											
LAMA5	3911	broad.mit.edu	37	chr20	60887326	60887326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccacgttcgagagcGccaggcgaaggaagccgtgg	8	4	18	11	6	0	1	0	0	0	1	1	4	0	2	3	4	3	1	3	4	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:60887326G>A	ENST00000252999.3	-	69	9473	c.9407C>T	c.(9406-9408)gCg>gTg	p.A3136V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3136	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTTCGAGAGCGCCAGGCGAAG	0.682																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9406-9408)gCg>gTg		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						35	37	36					20																	60887326		2191	4290	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887326G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9407C>T	20.37:g.60887326G>A	ENSP00000252999:p.Ala3136Val					LAMA5_uc021wfw.1_Missense_Mutation_p.A3136V	p.A3136V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		68	9474	-	Breast(26;1.57e-08)		3136			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9407C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	14.38	2.517032	0.44763	.	.	ENSG00000130702	ENST00000252999	T	0.44083	0.93	4.06	-4.78	0.03209	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.550849	0.19744	N	0.107052	T	0.21674	0.0522	L	0.44542	1.39	0.26559	N	0.973761	P	0.39404	0.672	B	0.30943	0.122	T	0.12502	-1.0545	10	0.33940	T	0.23	.	5.4851	0.16745	0.0705:0.1037:0.3171:0.5087	.	3136	O15230	LAMA5_HUMAN	V	3136	ENSP00000252999:A3136V	ENSP00000252999:A3136V	A	-	2	0	LAMA5	60320721	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	0.945000	0.29056	-0.988000	0.03489	-0.232000	0.12228	GCG		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60887326	G	A	60887326	3	1	17	1	0	0	0	0	1	0	0	0	8609	1087	38	1	1728	1	LAMA5	20	60887326	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	11266551	60887326	2138194	90	1186											
LRRC3	81543	broad.mit.edu	37	chr21	45877207	45877207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtcgtgtactatgtgcGccacaaccaggaggatgccc	9	8	11	13	3	0	0	0	0	0	0	1	2	0	2	3	2	5	1	3	2	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:45877207G>A	ENST00000291592.4	+	2	997	c.680G>A	c.(679-681)cGc>cAc	p.R227H	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	227						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TACTATGTGCGCCACAACCAG	0.662																																						uc021wjs.1																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(679-681)cGc>cAc		Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.							66	69	68					21																	45877207		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45877207G>A	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.680G>A	21.37:g.45877207G>A	ENSP00000291592:p.Arg227His					LRRC3_uc002zfa.3_Missense_Mutation_p.R227H	p.R227H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	0	680	+		Breast(209;0.00908)	227					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.680G>A	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645584	0.87859	.	.	ENSG00000160233	ENST00000291592	T	0.63255	-0.03	4.87	4.87	0.63330	.	0.062472	0.56097	D	0.000022	T	0.78648	0.4316	M	0.71581	2.175	0.53688	D	0.999977	D	0.89917	1.0	D	0.78314	0.991	T	0.80647	-0.1289	10	0.59425	D	0.04	-48.6732	18.0286	0.89276	0.0:0.0:1.0:0.0	.	227	Q9BY71	LRRC3_HUMAN	H	227	ENSP00000291592:R227H	ENSP00000291592:R227H	R	+	2	0	LRRC3	44701635	0.997000	0.39634	0.991000	0.47740	0.939000	0.58152	4.591000	0.61019	2.430000	0.82344	0.491000	0.48974	CGC		0.662	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			A	45877207	G	A	45877207	3	1	17	1	0	0	0	0	1	0	0	0	8984	1087	38	1	682	1	LRRC3	21	45877207	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		45877207	2252688	91	1187											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcttgctgcaccGcctcctgctgcagaccctcc	4	8	9	20	1	0	1	0	0	0	1	2	1	2	1	7	0	6	5	7	0	0	1	rs147625145	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:46057875G>A	ENST00000380095.1	+	1	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642																																						uc002zfq.3																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(541-543)Gcc>Acc		Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.		A	,THR/ALA	0,4406		0,0,2203	156	150	152		,541	-6.5	0	21	dbSNP_134	152	6,8594	818.9+/-406.8	0,6,4294	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,58	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,benign	,181/252	46057875	6,13000	2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057875G>A	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.541G>A	21.37:g.46057875G>A	ENSP00000369438:p.Ala181Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A181T	NM_181688	NP_859016	P60014	KR10A_HUMAN			0	603	+			181			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.541G>A	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.249703	0.00268	0.0	6.98E-4	ENSG00000221859	ENST00000380095	T	0.01279	5.06	3.27	-6.54	0.01860	.	.	.	.	.	T	0.00356	0.0011	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.11182	T	0.66	.	1.7812	0.03032	0.1131:0.2822:0.2124:0.3923	.	181	P60014	KR10A_HUMAN	T	181	ENSP00000369438:A181T	ENSP00000369438:A181T	A	+	1	0	KRTAP10-10	44882303	0.001000	0.12720	0.000000	0.03702	0.159000	0.22180	-0.707000	0.05041	-1.744000	0.01338	-1.907000	0.00523	GCC		0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		A	46057875	G	A	46057875	3	1	17	1	0	0	0	0	1	0	0	0	8506	1087	38	1	543	1	KRTAP10-10	21	46057875	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	180668	46057875	2072020	92	1188											
SGSM1	129049	broad.mit.edu	37	chr22	25263061	25263061	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccgtccgcttccagcGtctactgggactatgccatg	6	10	9	16	3	1	0	0	0	1	0	4	1	4	1	5	1	3	1	5	1	2	3	rs375323027		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:25263061G>A	ENST00000400359.4	+	10	935	c.928G>A	c.(928-930)Gtc>Atc	p.V310I	SGSM1_ENST00000400358.4_Splice_Site_p.V310I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	310	Required for interaction with RAP family members.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCTTCCAGCGTCTACTGGGA	0.617																																						uc003abg.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.e10-1		Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4152		0,0,2076	39	43	42		928,928,928,928	3.2	1	22		42	1,8449		0,1,4224	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	29,29,29,29	0,1,6300	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging	310/1149,310/1094,310/1033,310/1088	25263061	1,12601	2076	4225	6301	SO:0001630	splice_region_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25263061G>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.927-1G>A	22.37:g.25263061G>A						SGSM1_uc010guu.1_Splice_Site_p.S309_splice|SGSM1_uc003abh.2_Splice_Site_p.S309_splice|SGSM1_uc003abj.2_Splice_Site_p.S309_splice|SGSM1_uc003abi.1_Splice_Site_p.S284_splice	p.S309_splice	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			10	1084	+			309			Required for interaction with RAP family members.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.927_splice	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999133	0.54147	0.0	1.18E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.31769	1.48;1.48	4.19	3.17	0.36434	.	0.301547	0.35772	N	0.002981	T	0.31295	0.0792	N	0.25485	0.75	0.80722	D	1	D;D;P;D	0.67145	0.996;0.963;0.865;0.984	P;B;P;P	0.56514	0.8;0.435;0.488;0.557	T	0.01998	-1.1232	10	0.21540	T	0.41	-5.2056	11.3382	0.49516	0.0896:0.0:0.9104:0.0	.	310;426;443;310	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	I	426;310;310	ENSP00000383211:V310I;ENSP00000383212:V310I	ENSP00000383211:V310I	V	+	1	0	SGSM1	23593061	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.453000	0.80700	0.913000	0.36797	0.555000	0.69702	GTC		0.617	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	Missense_Mutation	A	25263061	G	A	25263061	5	1	17	1	0	0	0	0	0	0	1	0	14222	1159	40	1	966	1	SGSM1	22	25263061	Splice_Site	SNP	G	TCGA-06-0137-01A-01D-1490-08		25263061	26041505	93	1189											
SYN3	8224	broad.mit.edu	37	chr22	32924868	32924868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagggtcttacccaaggtCtgaggggggagggcgctgtg	6	8	20	7	1	2	2	0	2	2	0	2	3	2	3	1	6	1	1	1	6	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:32924868C>T	ENST00000358763.2	-	11	1465	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	SYN3_ENST00000332840.5_Missense_Mutation_p.R408K	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	408	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TACCCAAGGTCTGAGGGGGGA	0.572											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003amx.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1222-1224)aGa>aAa		Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.							52	44	47					22																	32924868		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32924868C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1223G>A	22.37:g.32924868C>T	ENSP00000351614:p.Arg408Lys		OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836	SYN3_uc003amy.3_Missense_Mutation_p.R408K|SYN3_uc003amz.3_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	p.R408K	NM_003490	NP_003481	O14994	SYN3_HUMAN			9	1385	-			408			J; Pro-rich linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1223G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592763	0.28357	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154;ENST00000390686	T;T	0.32023	1.47;1.47	5.15	2.98	0.34508	.	0.529857	0.21356	N	0.075883	T	0.23532	0.0569	L	0.41236	1.265	0.33754	D	0.620972	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.23013	-1.0200	10	0.34782	T	0.22	-6.2114	10.1366	0.42710	0.0:0.8187:0.0:0.1813	.	407;408;408	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	K	408;408;42;408	ENSP00000351614:R408K;ENSP00000330219:R408K	ENSP00000330219:R408K	R	-	2	0	SYN3	31254868	0.959000	0.32827	0.991000	0.47740	0.381000	0.30169	2.044000	0.41241	1.409000	0.46915	0.563000	0.77884	AGA		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			T	32924868	C	T	32924868	3	4	17	1	0	0	0	0	1	0	0	0	15439	913	32	3	535	3	SYN3	22	32924868	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	7661807	32924868	18379698	94	1190											
CELSR1	9620	broad.mit.edu	37	chr22	46860064	46860064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgttgaagacgaagacGtcgtccttggtggtggacag	9	9	16	7	4	0	3	0	1	0	2	2	6	1	5	1	4	0	1	1	4	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:46860064G>A	ENST00000262738.3	-	2	3722	c.3723C>T	c.(3721-3723)gaC>gaT	p.D1241D	CELSR1_ENST00000395964.1_Silent_p.D1241D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1241					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGACGAAGACGTCGTCCTTGG	0.642																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3721-3723)gaC>gaT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							86	79	82					22																	46860064		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46860064G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3723C>T	22.37:g.46860064G>A							p.D1241D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3723	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1241					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.3723C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722942	0.15439	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.75	0.979	0.19745	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	.	5.782	0.18312	0.0784:0.1355:0.6464:0.1397	.	.	.	.	M	616	.	.	T	-	2	0	CELSR1	45238728	0.985000	0.35326	1.000000	0.80357	0.797000	0.45037	0.205000	0.17356	0.993000	0.38866	-0.140000	0.14226	ACG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46860064	G	A	46860064	2	1	17	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46860064	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	13935196	46860064	4444502	95	1191											
CDKL5	6792	broad.mit.edu	37	chrX	18664128	18664128	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccactaactagaCggtggatgtgatggcagaag	10	10	12	9	1	1	3	0	1	1	2	2	4	1	4	2	3	1	2	2	3	3	3	rs201714912		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:18664128C>T	ENST00000379989.3	+	20	3000	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Splice_Site_p.D905D|RS1_ENST00000476595.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	905					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													A|||	1	0.000264901	0	0	3775	,	,		14324	0		0.001	False		,,,				2504	0					uc004cym.3																			1	Substitution - coding silent(1)	p.D905D(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.e19-1		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.		A	,,	1,3834		0,1,1631,571	140	112	122		,2715,2715	0.6	0.1	X		122	0,6728		0,0,2428,1872	no	intron,coding-synonymous-near-splice,coding-synonymous-near-splice	RS1,CDKL5	NM_000330.3,NM_001037343.1,NM_003159.2	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	,905/1031,905/1031	18664128	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18664128C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2714-1C>T	X.37:g.18664128C>T						CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	p.D905_splice	NM_003159	NP_003150	O76039	CDKL5_HUMAN			19	2967	+	Hepatocellular(33;0.183)		905					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.2714_splice	CCDS14186.1																																																																																				0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	Silent	T	18664128	C	T	18664128	5	4	17	1	0	0	0	0	0	0	1	0	3157	550	19	1	2785	1	CDKL5	23	18664128	Splice_Site	SNP	C	TCGA-06-0137-01A-01D-1490-08		18664128	136606432	96	1192											
KIF4A	24137	broad.mit.edu	37	chrX	69510643	69510643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtagcgccactcataaaaGgtgtatttaaaggtaaggcg	14	9	11	7	2	1	0	1	0	0	0	1	0	1	0	1	3	1	3	1	3	7	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:69510643G>T	ENST00000374403.3	+	3	305	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	PDZD11_ENST00000374454.1_5'Flank|PDZD11_ENST00000473667.1_5'Flank|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000374388.3_Missense_Mutation_p.G75C|KIF4A_ENST00000485406.1_3'UTR	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	75	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACTCATAAAAGGTGTATTTAA	0.408																																						uc004dyg.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(223-225)Ggt>Tgt		Homo sapiens kinesin family member 4A (KIF4A), mRNA.							110	86	94					X																	69510643		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69510643G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.223G>T	X.37:g.69510643G>T	ENSP00000363524:p.Gly75Cys					KIF4A_uc010nkw.3_Missense_Mutation_p.G75C|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.2_Missense_Mutation_p.G75C	p.G75C	NM_012310	NP_036442	O95239	KIF4A_HUMAN			2	366	+			75			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.223G>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	g	31	5.061086	0.93846	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.73469	-0.75;-0.75	5.43	5.43	0.79202	Kinesin, motor domain (4);	0.092556	0.47455	D	0.000223	D	0.84170	0.5413	M	0.65498	2.005	0.80722	D	1	P;P	0.51057	0.92;0.941	P;P	0.62560	0.904;0.754	D	0.85680	0.1300	10	0.87932	D	0	.	17.1593	0.86800	0.0:0.0:1.0:0.0	.	75;75	O95239;O95239-2	KIF4A_HUMAN;.	C	75	ENSP00000363509:G75C;ENSP00000363524:G75C	ENSP00000363509:G75C	G	+	1	0	KIF4A	69427368	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.820000	0.92003	2.521000	0.84997	0.597000	0.82753	GGT		0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69510643	G	T	69510643	3	4	17	1	0	0	0	0	1	0	0	0	8303	1000	35	5	229	5	KIF4A	23	69510643	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	50846515	69510643	85759917	97	1193											
DIAPH2	1730	broad.mit.edu	37	chrX	96684727	96684727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcagagaccgtcgaaagcGgattccaaggaatccaggta	14	7	11	9	3	1	1	1	0	0	1	4	5	3	3	3	3	1	1	3	3	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:96684727G>A	ENST00000324765.8	+	26	3571	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	DIAPH2_ENST00000373049.4_Missense_Mutation_p.R1075Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R1075Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R1071Q|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R1075Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1075	Arg/Lys-rich (basic).|DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTCGAAAGCGGATTCCAAGG	0.408													G|||	1	0.000264901	8e-04	0	3775	,	,		11677	0		0	False		,,,				2504	0					uc004efu.4																			0		p.R1075W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(3223-3225)cGg>cAg		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							69	61	64					X																	96684727		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96684727G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3224G>A	X.37:g.96684727G>A	ENSP00000321348:p.Arg1075Gln					DIAPH2_uc004eft.4_Missense_Mutation_p.R1075Q	p.R1075Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN			25	3620	+			1075			Arg/Lys-rich (basic).|DAD.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.3224G>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495275	0.64186	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83673	-1.67;-1.66;-1.75;-1.75;-1.67	5.31	5.31	0.75309	Diaphanous autoregulatory (1);	0.000000	0.64402	D	0.000002	D	0.91071	0.7190	M	0.73962	2.25	0.42132	D	0.991478	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.92151	0.5728	10	0.72032	D	0.01	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	1075;1075	O60879;O60879-2	DIAP2_HUMAN;.	Q	1075;1071;1075;1075;1075;1082	ENSP00000362152:R1075Q;ENSP00000362145:R1071Q;ENSP00000348082:R1075Q;ENSP00000362140:R1075Q;ENSP00000321348:R1075Q	ENSP00000321348:R1075Q	R	+	2	0	DIAPH2	96571383	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	8.380000	0.90149	2.351000	0.79841	0.600000	0.82982	CGG		0.408	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		A	96684727	G	A	96684727	3	1	17	1	0	0	0	0	1	0	0	0	4519	1116	39	2	3326	2	DIAPH2	23	96684727	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	27174084	96684727	58585833	98	1194											
ALG13	79868	broad.mit.edu	37	chrX	110925413	110925413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaattggtagaggaacGgtggtacctgaacccttcag	11	9	12	9	1	1	2	1	1	0	1	1	3	1	3	2	4	4	3	2	4	5	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:110925413G>A	ENST00000394780.3	+	2	147	c.135G>A	c.(133-135)acG>acA	p.T45T	ALG13_ENST00000251943.4_De_novo_Start_InFrame|ALG13_ENST00000371979.3_Silent_p.T45T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	45	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GTAGAGGAACGGTGGTACCTG	0.413																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(133-135)acG>acA		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							160	134	143					X																	110925413		2203	4300	6503	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110925413G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.135G>A	X.37:g.110925413G>A						ALG13_uc022ccl.1_Silent_p.T45T|ALG13_uc022ccm.1_Intron|ALG13_uc022ccn.1_Silent_p.T45T|ALG13_uc004epi.2_Silent_p.T45T|ALG13_uc011msw.2_5'UTR|ALG13_uc011msx.2_Intron|ALG13_uc022ccp.1_Intron|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_5'UTR|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_5'UTR|ALG13_uc022ccq.1_Non-coding_Transcript	p.T45T	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN			1	236	+			45					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.135G>A	CCDS55477.1																																																																																				0.413	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		A	110925413	G	A	110925413	2	1	17	1	0	0	0	0	0	0	0	1	515	1103	39	2		2	ALG13	23	110925413	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	14240686	110925413	44345147	99	1195											
ODZ1	10178	broad.mit.edu	37	chrX	123554390	123554390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgctgctggtaatcgCgcccaagtcaccttcagaat	9	10	9	13	2	2	1	2	0	0	1	3	1	2	1	3	1	2	3	3	1	3	3	rs148440423	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:123554390C>T	ENST00000371130.3	-	24	4795	c.4732G>A	c.(4732-4734)Gcg>Acg	p.A1578T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A1585T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1578					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGGTAATCGCGCCCAAGTCA	0.498																																						uc010nqy.3																			0		p.N1585N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(4753-4755)Gcg>Acg		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	4,3831		0,4,1628,571	109	79	89		4753,4750,4732	5.3	0.8	X	dbSNP_134	89	0,6728		0,0,2428,1872	yes	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	58,58,58	0,4,4056,2443	TT,TC,CC,C		0.0,0.1043,0.0379	benign,benign,benign	1585/2733,1584/2732,1578/2726	123554390	4,10559	2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554390C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4732G>A	X.37:g.123554390C>T	ENSP00000360171:p.Ala1578Thr					ODZ1_uc011muj.2_Missense_Mutation_p.A1584T|ODZ1_uc004euj.3_Missense_Mutation_p.A1578T	p.A1585T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			24	4817	-			1578					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4753G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	2.610	-0.291053	0.05568	0.001043	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84730	-1.89;-1.87	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);	0.204155	0.44483	D	0.000451	T	0.61924	0.2386	N	0.05124	-0.11	0.28956	N	0.890135	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.54899	-0.8224	10	0.02654	T	1	.	4.6438	0.12561	0.2084:0.6473:0.0:0.1442	.	1584;1585;1578	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	1578;1585	ENSP00000360171:A1578T;ENSP00000403954:A1585T	ENSP00000360171:A1578T	A	-	1	0	ODZ1	123382071	0.877000	0.30153	0.773000	0.31616	0.940000	0.58332	1.524000	0.35942	2.224000	0.72417	0.513000	0.50165	GCG		0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123554390	C	T	123554390	3	4	17	1	0	0	0	0	1	0	0	0	10834	768	27	1	3477	1	ODZ1	23	123554390	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12628977	123554390	31716170	100	1196											
SPANXN2	494119	broad.mit.edu	37	chrX	142795381	142795381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgagtccaggtcttcGtcctcctgtgaagatccttc	7	13	9	12	1	2	4	1	2	1	2	8	4	6	4	4	1	0	0	4	1	1	2	rs200898233		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:142795381G>A	ENST00000370498.1	-	2	1050	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	99										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCTTCGTCCTCCTGTG	0.527													G|||	1	0.000264901	0	0	3775	,	,		13827	0.001		0	False		,,,				2504	0					uc004fbz.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(295-297)gaC>gaT		Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.							262	235	244					X																	142795381		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795381G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.297C>T	X.37:g.142795381G>A							p.D99D	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			1	1051	-	Acute lymphoblastic leukemia(192;6.56e-05)		99					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.297C>T	CCDS35419.1																																																																																				0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		A	142795381	G	A	142795381	2	1	17	1	0	0	0	0	0	0	0	1	14991	1136	40	1		1	SPANXN2	23	142795381	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	19240991	142795381	12475179	101	1197											
MAGEA1	4100	broad.mit.edu	37	chrX	152482500	152482500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacctaggcaggtgacaaGgacataggagtggccggtgg	11	5	18	7	1	0	2	0	1	0	1	0	5	0	4	2	7	0	1	2	7	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:152482500G>A	ENST00000356661.5	-	3	729	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	171	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)	p.L171F(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517																																						uc022chs.1																			1	Substitution - Missense(1)	p.L171F(2)	central_nervous_system(1)	breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(511-513)Ctt>Ttt		Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.							115	107	110					X																	152482500		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482500G>A		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.511C>T	X.37:g.152482500G>A	ENSP00000349085:p.Leu171Phe					MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F	p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN			0	511	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		171			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.511C>T	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	G	8.795	0.931500	0.18131	.	.	ENSG00000198681	ENST00000356661	T	0.16073	2.37	1.28	1.28	0.21552	.	0.132704	0.50627	D	0.000110	T	0.18341	0.0440	M	0.62088	1.915	0.09310	N	1	B	0.29432	0.244	B	0.36959	0.237	T	0.14035	-1.0487	10	0.51188	T	0.08	.	5.5207	0.16931	0.0:0.0:1.0:0.0	.	171	P43355	MAGA1_HUMAN	F	171	ENSP00000349085:L171F	ENSP00000349085:L171F	L	-	1	0	MAGEA1	152135694	0.741000	0.28217	0.035000	0.18076	0.046000	0.14306	1.510000	0.35790	0.924000	0.37069	0.190000	0.17370	CTT		0.517	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		A	152482500	G	A	152482500	3	1	17	1	0	0	0	0	1	0	0	0	9163	1000	35	3	422	3	MAGEA1	23	152482500	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	9687119	152482500	2788060	102	1198											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631649	153631649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacctccagaaacacatcGtagagggcgttcagctcctt	11	8	10	12	2	1	3	1	0	0	3	4	4	3	3	3	1	2	3	3	1	2	3	rs368820912		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:153631649G>A	ENST00000393638.1	-	6	772	c.486C>T	c.(484-486)taC>taT	p.Y162Y	DNASE1L1_ENST00000369809.1_Silent_p.Y162Y|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	162					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAACACATCGTAGAGGGCGT	0.622																																						uc004fkr.1																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(313-315)Gta>Ata		Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.			,,,	0,3835		0,0,0,1632,571	88	79	82		486,486,486,486	-4.6	0	X		82	2,6725		0,1,1,2427,1870	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNASE1L1	NM_001009932.1,NM_001009933.1,NM_001009934.1,NM_006730.2	,,,	0,1,1,4059,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189	,,,	162/303,162/303,162/303,162/303	153631649	2,10560	2203	4299	6502	SO:0001819	synonymous_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153631649G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.486C>T	X.37:g.153631649G>A						RPL10_uc004fkq.1_Non-coding_Transcript|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	p.V105I	NM_006013	NP_006004	P27635	RL10_HUMAN			2	348	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		0					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.313G>A	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	5.562	0.288594	0.10513	0.0	2.97E-4	ENSG00000147403	ENST00000427682	.	.	.	5.11	-4.55	0.03441	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.36658	D	0.877783	.	.	.	.	.	.	T	0.52571	-0.8558	5	0.21540	T	0.41	-25.1999	13.6737	0.62440	0.642:0.0:0.358:0.0	.	.	.	.	I	90	.	ENSP00000405064:V90I	V	+	1	0	RPL10	153284843	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.416000	0.07097	-1.251000	0.02494	-0.195000	0.12781	GTA		0.622	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			A	153631649	G	A	153631649	2	1	17	1	0	0	0	0	0	0	0	1	4661	1140	40	1		1	DNASE1L1	23	153631649	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	1149149	153631649	1638911	103	1199											
WDR65	149465	broad.mit.edu	37	chr1	43651007	43651007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaaaaggatttttacCgtgagagcagagaaatcagg	16	8	13	4	1	1	3	1	1	0	3	1	7	1	5	1	3	2	1	1	3	5	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr1:43651007C>A	ENST00000372492.4	+	5	1273	c.949C>A	c.(949-951)Cgt>Agt	p.R317S	WDR65_ENST00000528956.1_Missense_Mutation_p.R317S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		317										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATTTTTACCGTGAGAGCAG	0.473																																						uc021omk.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(949-951)Cgt>Agt		Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.							64	63	64					1																	43651007		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43651007C>A																												ENST00000372492.4:c.949C>A	1.37:g.43651007C>A	ENSP00000361570:p.Arg317Ser					EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R306S|WDR65_uc001ciq.2_Missense_Mutation_p.R317S|WDR65_uc001cip.2_Missense_Mutation_p.R317S	p.R317S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN			4	1095	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	317					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.949C>A		.	.	.	.	.	.	.	.	.	.	C	17.30	3.355553	0.61293	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06849	5.03;3.25	5.53	5.53	0.82687	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.163251	0.52532	D	0.000064	T	0.13841	0.0335	M	0.77103	2.36	0.37141	D	0.901721	B;B	0.33345	0.378;0.409	B;B	0.37304	0.074;0.246	T	0.03344	-1.1046	10	0.33940	T	0.23	.	9.6269	0.39757	0.2928:0.5878:0.1194:0.0	.	317;317	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	317	ENSP00000361570:R317S;ENSP00000435310:R317S	ENSP00000361570:R317S	R	+	1	0	WDR65	43423594	0.981000	0.34729	0.966000	0.40874	0.990000	0.78478	1.878000	0.39608	2.762000	0.94881	0.591000	0.81541	CGT		0.473	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			A	43651007	C	A	43651007	3	1	18	1	0	0	0	0	1	0	0	0	17313	652	23	5	963	5	WDR65	1	43651007	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08		43651007	205599614	1	1200											
PCDHB3	56132	broad.mit.edu	37	chr5	140480851	140480851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatcgggaggagcagccGgaactcagcttaacgctcac	10	6	12	13	4	2	0	2	0	0	0	4	4	2	3	1	3	5	3	1	3	2	1			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140480851G>A	ENST00000231130.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGCCGGAACTCAGCT	0.567																																						uc003lio.3																			0		p.Q205Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(616-618)ccG>ccA		Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.							57	55	56					5																	140480851		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480851G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.618G>A	5.37:g.140480851G>A						BC016751_uc003lin.3_Intron	p.P206P	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	618	+			206			Cadherin 2.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.618G>A	CCDS4245.1																																																																																				0.567	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140480851	G	A	140480851	2	1	18	1	0	0	0	0	0	0	0	1	11543	1103	39	2		2	PCDHB3	5	140480851	Silent	SNP	G	TCGA-06-0139-01A-01D-1490-08		140480851	40434409	2	1201											
DIAPH1	1729	broad.mit.edu	37	chr5	140960406	140960406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccatggctctgaccagCagtaggattccttcttctgt	7	13	10	11	0	3	1	0	1	3	0	5	3	5	3	3	3	1	3	3	3	1	4			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140960406C>A	ENST00000398557.4	-	8	869	c.729G>T	c.(727-729)ctG>ctT	p.L243L	DIAPH1_ENST00000389054.3_Silent_p.L243L|DIAPH1_ENST00000253811.6_Silent_p.L243L|DIAPH1_ENST00000398566.3_Silent_p.L234L|DIAPH1_ENST00000518047.1_Silent_p.L234L|DIAPH1_ENST00000398562.2_Silent_p.L234L|DIAPH1_ENST00000389057.5_Silent_p.L234L|DIAPH1_ENST00000520569.1_Silent_p.L189L	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	243	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGACCAGCAGTAGGATTC	0.473																																						uc003llb.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(727-729)ctG>ctT		Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.							100	97	98					5																	140960406		1927	4139	6066	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140960406C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.729G>T	5.37:g.140960406C>A						DIAPH1_uc003llc.4_Silent_p.L234L|DIAPH1_uc021yep.1_Silent_p.L243L|DIAPH1_uc021yeq.1_Silent_p.L234L	p.L243L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	870	-			243			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.729G>T	CCDS43374.1																																																																																				0.473	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		A	140960406	C	A	140960406	2	1	18	1	0	0	0	0	0	0	0	1	4518	697	25	5		5	DIAPH1	5	140960406	Silent	SNP	C	TCGA-06-0139-01A-01D-1490-08	479555	140960406	39954854	3	1202											
PRSS55	203074	broad.mit.edu	37	chr8	10387101	10387101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtgggtgagtttcCgtggcaggtgagtattcagg	6	10	20	5	2	1	2	1	2	0	0	2	3	2	3	1	7	0	3	1	7	1	3	rs550455663	byFrequency	TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:10387101C>T	ENST00000328655.3	+	2	279	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PRSS55_ENST00000522210.1_Missense_Mutation_p.P80L|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	80	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGTGAGTTTCCGTGGCAGGTG	0.512													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		18093	0		0	False		,,,				2504	0					uc003wta.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(238-240)cCg>cTg		Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.							252	244	247					8																	10387101		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387101C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.239C>T	8.37:g.10387101C>T	ENSP00000333003:p.Pro80Leu					AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.P80L|PRSS55_uc003wtb.3_Non-coding_Transcript	p.P80L	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			1	279	+			80			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.239C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026753	0.75390	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.99105	-5.43;-5.43	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99345	0.9770	M	0.92691	3.335	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98446	1.0589	9	0.87932	D	0	.	12.0043	0.53251	0.0:1.0:0.0:0.0	.	80	Q6UWB4	PRS55_HUMAN	L	80	ENSP00000333003:P80L;ENSP00000430459:P80L	ENSP00000333003:P80L	P	+	2	0	PRSS55	10424511	0.997000	0.39634	0.970000	0.41538	0.902000	0.53008	5.270000	0.65547	2.527000	0.85204	0.561000	0.74099	CCG		0.512	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		T	10387101	C	T	10387101	3	4	18	1	0	0	0	0	1	0	0	0	12634	652	23	2	245	2	PRSS55	8	10387101	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08		10387101	135976921	4	1203											
CYP7A1	1581	broad.mit.edu	37	chr8	59409488	59409488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctttctgtgtgtcccGccttgtaagatctctgccaa	6	15	9	11	1	2	1	0	0	2	1	4	1	3	1	3	0	2	2	3	0	2	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:59409488G>A	ENST00000301645.3	-	3	720	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	195					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTGTGTCCCGCCTTGTAAGA	0.453									Neonatal Giant Cell Hepatitis																													uc003xtm.4																			0		p.R195L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(583-585)Cgg>Tgg		Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.							135	129	131					8																	59409488		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409488G>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.583C>T	8.37:g.59409488G>A	ENSP00000301645:p.Arg195Trp						p.R195W	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	646	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	195					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.583C>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338781	0.41398	.	.	ENSG00000167910	ENST00000301645	T	0.68903	-0.36	5.74	4.79	0.61399	.	0.519770	0.23353	N	0.049112	T	0.52964	0.1767	N	0.08118	0	0.27079	N	0.963139	P	0.51537	0.946	P	0.46452	0.517	T	0.52697	-0.8541	10	0.44086	T	0.13	-0.7265	15.387	0.74708	0.0:0.0:0.8216:0.1784	.	195	P22680	CP7A1_HUMAN	W	195	ENSP00000301645:R195W	ENSP00000301645:R195W	R	-	1	2	CYP7A1	59572042	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	4.707000	0.61852	1.347000	0.45714	0.563000	0.77884	CGG		0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		A	59409488	G	A	59409488	3	1	18	1	0	0	0	0	1	0	0	0	4196	1086	38	1	947	1	CYP7A1	8	59409488	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08	49022387	59409488	86954534	5	1204											
PSAT1	29968	broad.mit.edu	37	chr9	80921319	80921319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgcatggtgtggagtttGactttatacccgatgtcaag	8	13	13	7	2	1	1	1	1	0	0	1	3	1	2	1	3	2	2	1	3	3	4			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921319G>A	ENST00000376588.3	+	5	555	c.487G>A	c.(487-489)Gac>Aac	p.D163N	PSAT1_ENST00000347159.2_Missense_Mutation_p.D163N	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	163					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTGGAGTTTGACTTTATACC	0.463																																					Colon(34;187 791 10662 18313 37609)	uc004ala.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(487-489)Gac>Aac		Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						387	355	366					9																	80921319		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921319G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.487G>A	9.37:g.80921319G>A	ENSP00000365773:p.Asp163Asn					PSAT1_uc004alb.3_Missense_Mutation_p.D163N	p.D163N	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			4	555	+			163					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.487G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307009	0.40795	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.65364	-0.15;-0.15	5.85	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.294696	0.41823	N	0.000808	T	0.41696	0.1170	N	0.21508	0.67	0.42717	D	0.993666	B;B	0.10296	0.003;0.002	B;B	0.12156	0.005;0.007	T	0.20840	-1.0263	10	0.10377	T	0.69	-36.3941	8.3689	0.32404	0.1364:0.1261:0.7375:0.0	.	163;163	Q9Y617-2;Q9Y617	.;SERC_HUMAN	N	163	ENSP00000317606:D163N;ENSP00000365773:D163N	ENSP00000317606:D163N	D	+	1	0	PSAT1	80111139	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.959000	0.40412	1.489000	0.48450	0.655000	0.94253	GAC		0.463	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		A	80921319	G	A	80921319	3	1	18	1	0	0	0	0	1	0	0	0	12644	1290	45	3	505	3	PSAT1	9	80921319	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		80921319	60292112	6	1205			1	7		2	2	25	G		7.752717e-06
PSAT1	29968	broad.mit.edu	37	chr9	80921343	80921343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatacccgatgtcaagggaGcagtactggtttgtgacatg	10	12	12	7	1	1	1	1	1	0	0	1	3	1	2	1	2	3	3	1	2	4	4	rs115263053		TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921343G>A	ENST00000376588.3	+	5	579	c.511G>A	c.(511-513)Gca>Aca	p.A171T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A171T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	171					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTCAAGGGAGCAGTACTGGT	0.498																																					Colon(34;187 791 10662 18313 37609)	uc004ala.3																			0		p.G170*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(511-513)Gca>Aca		Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						367	337	347					9																	80921343		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921343G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.511G>A	9.37:g.80921343G>A	ENSP00000365773:p.Ala171Thr					PSAT1_uc004alb.3_Missense_Mutation_p.A171T	p.A171T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			4	579	+			171					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.511G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767043	0.49574	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.90069	-2.61;-2.61	5.85	4.02	0.46733	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.159334	0.56097	N	0.000029	T	0.81245	0.4782	L	0.33668	1.02	0.35788	D	0.822196	B;B	0.15930	0.015;0.007	B;B	0.18871	0.023;0.023	T	0.75709	-0.3223	10	0.25106	T	0.35	-31.6171	8.7108	0.34382	0.2838:0.0:0.7162:0.0	.	171;171	Q9Y617-2;Q9Y617	.;SERC_HUMAN	T	171	ENSP00000317606:A171T;ENSP00000365773:A171T	ENSP00000317606:A171T	A	+	1	0	PSAT1	80111163	1.000000	0.71417	0.390000	0.26220	0.945000	0.59286	3.955000	0.56715	0.818000	0.34468	0.655000	0.94253	GCA		0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		A	80921343	G	A	80921343	3	1	18	1	0	0	0	0	1	0	0	0	12644	971	34	3	529	3	PSAT1	9	80921343	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08	24	80921343	60292088	7	1206			1	7		2	2	25	G		7.752717e-06
OR4F6	390648	broad.mit.edu	37	chr15	102346736	102346736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcttgataaattccttGccatctttgatgcagttatc	10	16	5	10	0	2	2	0	2	2	0	4	2	3	2	2	0	2	2	2	0	3	6			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr15:102346736G>A	ENST00000328882.4	+	1	835	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TAAATTCCTTGCCATCTTTGA	0.378																																						uc010utr.2																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(814-816)Gcc>Acc		Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.							117	108	111					15																	102346736		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346736G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.814G>A	15.37:g.102346736G>A	ENSP00000327525:p.Ala272Thr						p.A272T	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		0	814	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		272					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.814G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.666559	0.29604	.	.	ENSG00000184140	ENST00000328882	T	0.00152	8.66	4.9	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.119736	0.37437	N	0.002093	T	0.00210	0.0006	M	0.64630	1.985	0.09310	N	1	P	0.45531	0.86	P	0.45506	0.483	T	0.47959	-0.9076	9	.	.	.	.	10.6929	0.45882	0.0:0.0:0.652:0.348	.	272	Q8NGB9	OR4F6_HUMAN	T	272	ENSP00000327525:A272T	.	A	+	1	0	OR4F6	100164259	0.000000	0.05858	0.992000	0.48379	0.366000	0.29705	-0.003000	0.12901	1.443000	0.47586	-0.189000	0.12847	GCC		0.378	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			A	102346736	G	A	102346736	3	1	18	1	0	0	0	0	1	0	0	0	11066	1319	46	3	816	3	OR4F6	15	102346736	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		102346736	184656	8	1207											
TANC2	26115	broad.mit.edu	37	chr17	61391934	61391934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggaaacattggattcGgcaaaactgccatcatctcc	11	11	9	10	1	2	0	1	0	1	0	4	2	2	2	2	3	3	1	2	3	3	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:61391934G>A	ENST00000424789.2	+	8	1127	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	TANC2_ENST00000389520.4_Missense_Mutation_p.G375S|RP11-269G24.2_ENST00000580253.1_RNA|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	375					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATTGGATTCGGCAAAACTGC	0.507																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1123-1125)Ggc>Agc		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.							128	132	130					17																	61391934		2073	4205	6278	SO:0001583	missense	26115						binding	g.chr17:61391934G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1123G>A	17.37:g.61391934G>A	ENSP00000387593:p.Gly375Ser					TANC2_uc010wpe.2_Missense_Mutation_p.G285S	p.G375S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			7	1146	+			375					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1123G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380364	0.95945	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	D;D	0.90069	-2.61;-2.61	5.23	5.23	0.72850	.	.	.	.	.	D	0.95023	0.8389	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95409	0.8496	9	0.87932	D	0	.	19.1862	0.93645	0.0:0.0:1.0:0.0	.	375;375	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	S	375	ENSP00000374171:G375S;ENSP00000387593:G375S	ENSP00000374171:G375S	G	+	1	0	TANC2	58745666	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	9.779000	0.99018	2.602000	0.87976	0.650000	0.86243	GGC		0.507	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			A	61391934	G	A	61391934	3	1	18	1	0	0	0	0	1	0	0	0	15542	1116	39	2	1153	2	TANC2	17	61391934	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		61391934	19803276	9	1208											
EXOC7	23265	broad.mit.edu	37	chr17	74094004	74094004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaccactgatcagatcCaagatgagcacgggcgagac	12	6	11	12	3	2	5	2	2	0	3	4	6	3	5	2	1	1	1	2	1	1	0			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:74094004C>A	ENST00000335146.7	-	5	566	c.513G>T	c.(511-513)ttG>ttT	p.L171F	EXOC7_ENST00000589210.1_Missense_Mutation_p.L171F|EXOC7_ENST00000607838.1_Missense_Mutation_p.L171F|EXOC7_ENST00000411744.2_Missense_Mutation_p.L171F|EXOC7_ENST00000467929.2_Missense_Mutation_p.L130F|EXOC7_ENST00000405575.4_Missense_Mutation_p.L171F|EXOC7_ENST00000332065.5_Missense_Mutation_p.L171F			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	171					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGATCAGATCCAAGATGAGCA	0.602																																						uc002jqs.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(511-513)ttG>ttT		Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.							121	102	108					17																	74094004		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74094004C>A	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.513G>T	17.37:g.74094004C>A	ENSP00000334100:p.Leu171Phe					EXOC7_uc010dgv.2_Missense_Mutation_p.L118F|EXOC7_uc010wsv.2_Missense_Mutation_p.L130F|EXOC7_uc010wsw.2_Missense_Mutation_p.L171F|EXOC7_uc002jqq.3_Missense_Mutation_p.L171F|EXOC7_uc010wsx.2_Missense_Mutation_p.L171F|EXOC7_uc002jqr.3_Missense_Mutation_p.L171F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F	p.L171F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		4	608	-			171					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.513G>T	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641925	0.87859	.	.	ENSG00000182473	ENST00000332065;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116;ENST00000442951	.	.	.	4.99	4.99	0.66335	Cullin repeat-like-containing domain (1);	0.082864	0.52532	D	0.000079	T	0.64193	0.2576	L	0.28400	0.85	0.80722	D	1	P;D;P;D;D;D;D;D	0.89917	0.927;0.994;0.656;1.0;1.0;0.999;1.0;0.994	P;P;B;D;D;P;D;P	0.91635	0.578;0.84;0.157;0.999;0.964;0.894;0.994;0.84	T	0.57365	-0.7824	9	0.18710	T	0.47	-13.0176	16.636	0.85060	0.0:1.0:0.0:0.0	.	171;171;130;130;171;171;171;171	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	F	171;171;171;171;130;171;171;56;118	.	ENSP00000333806:L171F	L	-	3	2	EXOC7	71605599	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.595000	0.54016	2.598000	0.87819	0.563000	0.77884	TTG		0.602	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		A	74094004	C	A	74094004	3	1	18	1	0	0	0	0	1	0	0	0	5310	593	21	5	1758	5	EXOC7	17	74094004	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08	12702070	74094004	7101206	10	1209											
ABCA4	24	broad.mit.edu	37	chr1	94463458	94463458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgagtactcctcgatgaGcaggctgtccttgtgggaga	8	10	14	9	1	0	3	0	2	0	1	3	6	2	3	2	2	2	3	2	2	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:94463458G>A	ENST00000370225.3	-	48	6774	c.6688C>T	c.(6688-6690)Ctc>Ttc	p.L2230F	ABCA4_ENST00000535881.1_Missense_Mutation_p.L349F|ABCA4_ENST00000536513.1_Missense_Mutation_p.L500F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2230					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCGATGAGCAGGCTGTCC	0.592																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6688-6690)Ctc>Ttc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							138	105	116					1																	94463458		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94463458G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6688C>T	1.37:g.94463458G>A	ENSP00000359245:p.Leu2230Phe						p.L2230F	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	47	6792	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2230					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6688C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503267	0.12822	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	T;T;T	0.74737	-0.87;-0.87;-0.87	5.39	0.937	0.19494	.	17.037100	0.00166	N	0.000001	T	0.39036	0.1063	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.51180	-0.8738	10	0.22109	T	0.4	.	4.2851	0.10851	0.3073:0.0:0.3979:0.2949	.	2230	P78363	ABCA4_HUMAN	F	1022;2230;500;349	ENSP00000359245:L2230F;ENSP00000439707:L500F;ENSP00000443203:L349F	ENSP00000359245:L2230F	L	-	1	0	ABCA4	94236046	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	0.564000	0.23563	0.661000	0.30985	0.563000	0.77884	CTC		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94463458	G	A	94463458	3	1	19	1	0	0	0	0	1	0	0	0	34	971	34	3	145	3	ABCA4	1	94463458	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		94463458	154787163	1	1210											
OPTC	26254	broad.mit.edu	37	chr1	203472741	203472741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggagcacaaacacaccCgcaggcagctggaagacatc	14	2	11	14	2	0	1	0	0	0	1	1	4	0	3	2	3	3	4	2	3	2	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:203472741C>T	ENST00000367222.2	+	7	1008	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	298					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAACACACCCGCAGGCAGCT	0.587																																						uc001gzu.1																			0				breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20						c.(892-894)Cgc>Tgc		Homo sapiens opticin (OPTC), mRNA.							110	104	106					1																	203472741		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472741C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.892C>T	1.37:g.203472741C>T	ENSP00000356191:p.Arg298Cys						p.R298C	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		6	1008	+			298					Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.892C>T	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896349	0.72639	.	.	ENSG00000188770	ENST00000367222	T	0.02280	4.36	3.94	3.0	0.34707	.	0.000000	0.64402	D	0.000005	T	0.06962	0.0177	L	0.45352	1.415	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.21381	-1.0247	10	0.54805	T	0.06	-21.832	9.7494	0.40466	0.3746:0.6254:0.0:0.0	.	298	Q9UBM4	OPT_HUMAN	C	298	ENSP00000356191:R298C	ENSP00000356191:R298C	R	+	1	0	OPTC	201739364	0.989000	0.36119	0.167000	0.22817	0.736000	0.42039	1.862000	0.39448	0.832000	0.34804	0.505000	0.49811	CGC		0.587	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		T	203472741	C	T	203472741	3	4	19	1	0	0	0	0	1	0	0	0	10888	652	23	2	914	2	OPTC	1	203472741	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	109009283	203472741	45777880	2	1211											
PIGR	5284	broad.mit.edu	37	chr1	207109154	207109154	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtggggctgcggggaAtcgtggactctggaagcaca	9	6	16	10	2	1	0	0	0	1	0	2	3	1	3	1	6	2	2	1	6	2	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:207109154A>T	ENST00000356495.4	-	5	1238	c.1055T>A	c.(1054-1056)aTt>aAt	p.I352N		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	352	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGGGAATCGTGGACTC	0.602											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.3																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1054-1056)aTt>aAt		Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.							23	26	25					1																	207109154		2201	4299	6500	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207109154A>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1055T>A	1.37:g.207109154A>T	ENSP00000348888:p.Ile352Asn		OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.3_Missense_Mutation_p.I352N	p.I352N	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	1239	-			352			Ig-like V-type 3.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1055T>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726344	0.69074	.	.	ENSG00000162896	ENST00000356495	T	0.04275	3.66	5.55	5.55	0.83447	.	1.014150	0.07881	N	0.969449	T	0.20740	0.0499	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.18366	-1.0339	10	0.72032	D	0.01	-22.5887	12.0823	0.53677	1.0:0.0:0.0:0.0	.	352	P01833	PIGR_HUMAN	N	352	ENSP00000348888:I352N	ENSP00000348888:I352N	I	-	2	0	PIGR	205175777	0.036000	0.19791	0.003000	0.11579	0.111000	0.19643	3.552000	0.53705	2.112000	0.64535	0.533000	0.62120	ATT		0.602	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		T	207109154	A	T	207109154	3	4	19	1	0	0	0	0	1	0	0	0	11897	101	4	5	1267	5	PIGR	1	207109154	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08	3636413	207109154	42141467	3	1212											
NBAS	51594	broad.mit.edu	37	chr2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagccatgagctcttgaCgagtggccaagtcctggtaa	12	8	11	10	1	1	2	0	2	1	0	2	3	2	2	3	2	2	2	3	2	4	2	rs140188229		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453																																						uc002rcc.1																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4000-4002)cGt>cAt		Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.		C	HIS/ARG	0,4406		0,0,2203	179	170	173		4001	5	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15493765C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4001G>A	2.37:g.15493765C>T	ENSP00000281513:p.Arg1334His					NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_Non-coding_Transcript	p.R1334H	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			33	4027	-			1334					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4001G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15493765	C	T	15493765	3	4	19	1	0	0	0	0	1	0	0	0	10186	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		15493765	227705608	4	1213											
CYP26B1	56603	broad.mit.edu	37	chr2	72360330	72360330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcccgcagctcatccCgcagcttctccagcacagtg	8	7	9	17	2	2	1	1	1	1	0	4	1	3	1	3	0	4	5	3	0	0	1	rs534997827		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:72360330C>T	ENST00000001146.2	-	5	1171	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R132Q|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R248Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	323					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTCATCCCGCAGCTTCTC	0.657																																						uc002sih.1																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(967-969)cGg>cAg		Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.							27	26	26					2																	72360330		2202	4298	6500	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360330C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.968G>A	2.37:g.72360330C>T	ENSP00000001146:p.Arg323Gln					CYP26B1_uc010yra.1_Missense_Mutation_p.R306Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R248Q	p.R323Q	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			4	968	-			323					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.968G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966062	0.97156	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.71222	-0.55;-0.55;-0.55	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75095	0.3803	L	0.39397	1.21	0.80722	D	1	D;D;D	0.55605	0.972;0.972;0.972	P;P;P	0.56127	0.792;0.771;0.771	T	0.71777	-0.4490	10	0.34782	T	0.22	-6.847	18.6392	0.91389	0.0:1.0:0.0:0.0	.	248;306;323	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	Q	323;132;248	ENSP00000001146:R323Q;ENSP00000401465:R132Q;ENSP00000443304:R248Q	ENSP00000001146:R323Q	R	-	2	0	CYP26B1	72213838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.925000	0.63425	2.833000	0.97629	0.650000	0.86243	CGG		0.657	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		T	72360330	C	T	72360330	3	4	19	1	0	0	0	0	1	0	0	0	4156	652	23	2	578	2	CYP26B1	2	72360330	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	56866565	72360330	170839043	5	1214											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460088	107460088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttgagattttctccccaCctgggatgaaaaaaactctt	12	13	6	10	0	2	2	0	2	2	1	3	4	2	3	3	1	1	0	3	1	3	4	rs377166692		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:107460088C>T	ENST00000409382.3	-	2	956	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V116M|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V116M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	116					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTCTCCCCACCTGGGATGAA	0.547																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(346-348)Gtg>Atg		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.		C	MET/VAL,MET/VAL,MET/VAL	1,4381		0,1,2190	64	76	72		346,346,346	-2.2	0.1	2		72	0,8590		0,0,4295	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	21,21,21	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign	116/530,116/467,116/530	107460088	1,12971	2191	4295	6486	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460088C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.346G>A	2.37:g.107460088C>T	ENSP00000386942:p.Val116Met					ST6GAL2_uc002tdr.3_Missense_Mutation_p.V116M|ST6GAL2_uc002tds.3_Missense_Mutation_p.V116M	p.V116M	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	465	-			116					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.346G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241268	0.22711	2.28E-4	0.0	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.33216	2.44;2.44;1.42	5.54	-2.21	0.06973	.	1.023340	0.07733	N	0.945527	T	0.15522	0.0374	N	0.19112	0.55	0.09310	N	1	B;B	0.24920	0.114;0.022	B;B	0.18561	0.022;0.01	T	0.25398	-1.0133	10	0.51188	T	0.08	-4.6552	2.0195	0.03505	0.1169:0.1891:0.355:0.3391	.	116;116	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	M	116	ENSP00000355273:V116M;ENSP00000386942:V116M;ENSP00000387332:V116M	ENSP00000355273:V116M	V	-	1	0	ST6GAL2	106826520	0.001000	0.12720	0.124000	0.21820	0.526000	0.34562	-0.515000	0.06290	-0.385000	0.07833	0.655000	0.94253	GTG		0.547	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460088	C	T	107460088	3	4	19	1	0	0	0	0	1	0	0	0	15221	507	18	3	1350	3	ST6GAL2	2	107460088	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	35099758	107460088	135739285	6	1215											
ACTR3	10096	broad.mit.edu	37	chr2	114691915	114691915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagaacggacgttgacCggtacggtaatagacagtgg	12	7	16	6	4	0	3	0	1	0	2	0	5	0	4	1	5	2	4	1	5	5	5	rs371867071		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:114691915C>T	ENST00000263238.2	+	6	812	c.492C>T	c.(490-492)acC>acT	p.T164T	ACTR3_ENST00000536059.1_Silent_p.T102T|ACTR3_ENST00000535589.2_Silent_p.T113T	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	164					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GGACGTTGACCGGTACGGTAA	0.418																																						uc002tkx.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(490-492)acC>acT		Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.		C		0,4406		0,0,2203	263	239	247		492	-2.5	1	2		247	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTR3	NM_005721.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		164/419	114691915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114691915C>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"ARP3 (actin-related protein 3, yeast) homolog"			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.492C>T	2.37:g.114691915C>T						ACTR3_uc010yyc.1_Silent_p.T102T|ACTR3_uc010yyd.1_Silent_p.T113T	p.T164T	NM_005721	NP_005712	P61158	ARP3_HUMAN			5	812	+			164					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.492C>T	CCDS33277.1																																																																																				0.418	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		T	114691915	C	T	114691915	2	4	19	1	0	0	0	0	0	0	0	1	212	639	23	2		2	ACTR3	2	114691915	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	7231827	114691915	128507458	7	1216											
PRPF40A	55660	broad.mit.edu	37	chr2	153515685	153515685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctttgaatggctatcatCatcatctgaatctgacccct	9	16	5	11	0	6	3	3	3	3	0	6	3	6	3	2	1	0	1	2	1	3	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:153515685C>T	ENST00000410080.1	-	23	2969	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	837					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGGCTATCATCATCATCTGAA	0.343																																						uc002tyh.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.(2428-2430)Gat>Aat		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.							95	87	89					2																	153515685		1851	4096	5947	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153515685C>T	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2428G>A	2.37:g.153515685C>T	ENSP00000386458:p.Asp810Asn					PRPF40A_uc002tyg.4_Missense_Mutation_p.D266N|PRPF40A_uc010zcd.1_Missense_Mutation_p.D761N	p.D810N	NM_017892	NP_060362	O75400	PR40A_HUMAN			22	2450	-			837					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2428G>A	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298562	0.81025	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.32272	1.46	5.38	5.38	0.77491	.	0.089615	0.85682	D	0.000000	T	0.30541	0.0768	L	0.39898	1.24	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.40165	0.321;0.321	T	0.01889	-1.1253	10	0.27082	T	0.32	-24.5581	19.5019	0.95098	0.0:1.0:0.0:0.0	.	837;810	O75400;E9PFS0	PR40A_HUMAN;.	N	810;819;706;761	ENSP00000386458:D810N	ENSP00000348770:D819N	D	-	1	0	PRPF40A	153223931	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.776000	0.85560	2.697000	0.92050	0.563000	0.77884	GAT		0.343	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		T	153515685	C	T	153515685	3	4	19	1	0	0	0	0	1	0	0	0	12571	826	29	3	380	3	PRPF40A	2	153515685	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	38823770	153515685	89683688	8	1217											
STK11IP	114790	broad.mit.edu	37	chr2	220476376	220476376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccacgtggttctcctcGctgtgtctcggggaaccccc	4	10	12	15	3	2	1	0	1	2	0	5	2	2	2	4	3	1	2	4	3	1	1	rs199930908		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:220476376G>A	ENST00000456909.1	+	18	2245	c.2155G>A	c.(2155-2157)Gct>Act	p.A719T	STK11IP_ENST00000295641.10_Missense_Mutation_p.A730T			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	730					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTCTCCTCGCTGTGTCTCG	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		19742	0		0	False		,,,				2504	0					uc002vml.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(2188-2190)Gct>Act		Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.							97	110	106					2																	220476376		2074	4197	6271	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220476376G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2155G>A	2.37:g.220476376G>A	ENSP00000389383:p.Ala719Thr						p.A730T	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2231	+		Renal(207;0.0183)	730					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2188G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	9.679	1.148788	0.21288	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.08282	3.12;3.11	4.7	0.702	0.18110	.	0.365789	0.27901	N	0.017399	T	0.06416	0.0165	L	0.56769	1.78	0.09310	N	1	B	0.31318	0.319	B	0.21151	0.033	T	0.35624	-0.9781	10	0.20519	T	0.43	-1.0735	5.3241	0.15896	0.1884:0.3381:0.4736:0.0	.	730	Q8N1F8	S11IP_HUMAN	T	719;730	ENSP00000389383:A719T;ENSP00000295641:A730T	ENSP00000295641:A730T	A	+	1	0	STK11IP	220184620	0.670000	0.27512	0.155000	0.22561	0.003000	0.03518	0.247000	0.18179	0.218000	0.20820	-1.385000	0.01166	GCT		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		A	220476376	G	A	220476376	3	1	19	1	0	0	0	0	1	0	0	0	15287	1087	38	1	2258	1	STK11IP	2	220476376	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	66960691	220476376	22722997	9	1218											
SCG2	7857	broad.mit.edu	37	chr2	224462380	224462380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatggcctgctcaatttgttCctcttcctgcaggtcatctt	5	16	8	12	0	4	0	2	0	2	0	6	1	6	0	3	2	2	3	3	2	1	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:224462380C>T	ENST00000305409.2	-	2	1853	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAATTTGTTCCTCTTCCTGC	0.507																																						uc021vxk.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1621-1623)Gaa>Aaa		Homo sapiens secretogranin II (SCG2), mRNA.							118	108	111					2																	224462380		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462380C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1621G>A	2.37:g.224462380C>T	ENSP00000304133:p.Glu541Lys					SCG2_uc002vnm.3_Missense_Mutation_p.E541K	p.E541K	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	0	1621	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	541					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1621G>A	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	5.917	0.353242	0.11182	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01505	4.82	5.77	3.95	0.45737	.	0.402882	0.26089	N	0.026404	T	0.01976	0.0062	L	0.37630	1.12	0.45837	D	0.998702	B	0.15930	0.015	B	0.21546	0.035	T	0.55296	-0.8163	10	0.29301	T	0.29	.	9.0109	0.36139	0.0:0.773:0.0:0.227	.	541	P13521	SCG2_HUMAN	K	541;401	ENSP00000304133:E541K	ENSP00000304133:E541K	E	-	1	0	SCG2	224170624	0.959000	0.32827	0.876000	0.34364	0.270000	0.26580	2.912000	0.48782	0.759000	0.33084	0.585000	0.79938	GAA		0.507	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224462380	C	T	224462380	3	4	19	1	0	0	0	0	1	0	0	0	13891	864	30	3	236	3	SCG2	2	224462380	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	3986004	224462380	18736993	10	1219											
MLPH	79083	broad.mit.edu	37	chr2	238449110	238449110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccgaggaggaggaagcCaaggacgaaaaggcagagcc	14	2	16	9	3	0	1	0	0	0	1	2	7	1	5	3	5	2	1	3	5	4	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:238449110C>A	ENST00000264605.3	+	10	1518	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.A408A|MLPH_ENST00000338530.4_Silent_p.A380A|MLPH_ENST00000410032.1_Silent_p.A265A|MLPH_ENST00000409373.1_Silent_p.A340A	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	408					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGAGGAAGCCAAGGACGAAA	0.627																																						uc002vwt.3																			0		p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1222-1224)gcC>gcA		Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.							78	75	76					2																	238449110		2203	4299	6502	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238449110C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1224C>A	2.37:g.238449110C>A						MLPH_uc002vws.3_Silent_p.A265A|MLPH_uc010fyt.1_Silent_p.A380A|MLPH_uc002vwu.3_Silent_p.A380A|MLPH_uc002vwv.3_Silent_p.A340A|MLPH_uc002vww.3_Silent_p.A356A|MLPH_uc002vwx.3_Silent_p.A264A	p.A408A	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	9	1451	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	408					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.1224C>A	CCDS2518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.269|0.269	-0.994440|-0.994440	0.02145|0.02145	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000436965|ENST00000415753	.|.	.|.	.|.	2.71|2.71	2.71|2.71	0.32032|0.32032	.|.	.|.	.|.	.|.	.|.	T|T	0.61110|0.61110	0.2321|0.2321	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60000|0.60000	-0.7348|-0.7348	4|4	.|.	.|.	.|.	-7.0745|-7.0745	11.5977|11.5977	0.50984|0.50984	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	Q|K	129|96	.|.	.|.	P|Q	+|+	2|1	0|0	MLPH|MLPH	238113849|238113849	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.022000|0.022000	0.10575|0.10575	0.020000|0.020000	0.13466|0.13466	1.832000|1.832000	0.53329|0.53329	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.627	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		A	238449110	C	A	238449110	2	1	19	1	0	0	0	0	0	0	0	1	9633	581	21	5		5	MLPH	2	238449110	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	13986730	238449110	4750263	11	1220											
PLA1A	51365	broad.mit.edu	37	chr3	119316815	119316815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggcctcattttgtggCtcagcgttggaagttcaggt	5	13	16	7	1	3	0	3	0	0	0	3	1	3	1	1	6	1	3	1	6	1	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:119316815C>G	ENST00000273371.4	+	1	127	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_5'Flank|PLA1A_ENST00000495992.1_Missense_Mutation_p.L19V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	19					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATTTTGTGGCTCAGCGTTGG	0.507																																						uc003ecu.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(55-57)Ctc>Gtc		Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.							45	42	43					3																	119316815		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119316815C>G	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.55C>G	3.37:g.119316815C>G	ENSP00000273371:p.Leu19Val					PLA1A_uc003ecv.3_Missense_Mutation_p.L19V|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript	p.L19V	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN			0	121	+			19					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.55C>G	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624402	0.28889	.	.	ENSG00000144837	ENST00000273371;ENST00000495992	D;D	0.90385	-2.66;-2.57	5.18	2.38	0.29361	Lipase, N-terminal (1);	20.918400	0.00597	N	0.000363	D	0.85457	0.5701	N	0.25647	0.755	0.09310	N	0.999999	P;P	0.48089	0.728;0.905	B;B	0.43508	0.297;0.422	T	0.75531	-0.3285	10	0.16896	T	0.51	-5.7906	7.2512	0.26150	0.0:0.7209:0.0:0.2791	.	19;19	Q53H76-3;Q53H76	.;PLA1A_HUMAN	V	19	ENSP00000273371:L19V;ENSP00000417326:L19V	ENSP00000273371:L19V	L	+	1	0	PLA1A	120799505	0.345000	0.24835	0.275000	0.24674	0.345000	0.29048	0.065000	0.14466	0.774000	0.33427	0.655000	0.94253	CTC		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			G	119316815	C	G	119316815	3	3	19	1	0	0	0	0	1	0	0	0	11988	797	28	5	57	5	PLA1A	3	119316815	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		119316815	78705615	12	1221											
MRPL3	11222	broad.mit.edu	37	chr3	131190114	131190114	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatgacaccttgaaaaccTttaccaatactgaacaaaac	17	10	3	11	0	1	3	1	3	0	0	1	3	1	3	3	0	5	0	3	0	8	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:131190114T>C	ENST00000264995.3	-	7	786	c.639A>G	c.(637-639)aaA>aaG	p.K213K	MRPL3_ENST00000425847.2_Silent_p.K240K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	213					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTGAAAACCTTTACCAATAC	0.408																																						uc011blp.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(718-720)aaA>aaG		Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.							97	98	98					3																	131190114		2203	4299	6502	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190114T>C	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.639A>G	3.37:g.131190114T>C						MRPL3_uc011blo.2_Silent_p.K108K|MRPL3_uc003eoh.3_Silent_p.K213K	p.K240K	NM_007208	NP_009139	P09001	RM03_HUMAN			7	915	-			213					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.720A>G	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	T	9.854	1.194396	0.22037	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.70868	0.3273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70153	-0.4950	4	.	.	.	-24.2461	14.6911	0.69087	0.0:0.0:0.0:1.0	.	.	.	.	G	228	.	.	R	-	1	2	MRPL3	132672804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.835000	0.55805	2.113000	0.64589	0.528000	0.53228	AGG		0.408	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		C	131190114	T	C	131190114	2	2	19	1	0	0	0	0	0	0	0	1	9793	1606	56	4		4	MRPL3	3	131190114	Silent	SNP	T	TCGA-06-0140-01A-01D-1490-08	11873299	131190114	66832316	13	1222											
RASSF6	166824	broad.mit.edu	37	chr4	74442417	74442417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggagcctctgcagtagCggaatgtctgtcttctttag	7	14	12	8	1	4	0	0	0	4	0	4	2	4	2	1	2	3	3	1	2	4	5	rs147932445	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:74442417C>T	ENST00000342081.3	-	9	979	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RASSF6_ENST00000395777.2_Silent_p.P217P|RASSF6_ENST00000307439.5_Silent_p.P251P|RASSF6_ENST00000335049.5_Silent_p.P239P	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	283	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403													C|||	4	0.000798722	0	0.0029	5008	,	,		18175	0		0	False		,,,				2504	0.002					uc003hhd.1																			0		p.P283Q(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(847-849)ccG>ccA		Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	220	229	226		753,849	-12.1	0	4	dbSNP_134	226	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	RASSF6	NM_177532.3,NM_201431.1	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	251/338,283/370	74442417	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74442417C>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.849G>A	4.37:g.74442417C>T						RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	p.P283P	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		8	972	-	Breast(15;0.00102)		283			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.849G>A	CCDS3558.1																																																																																				0.403	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		T	74442417	C	T	74442417	2	4	19	1	0	0	0	0	0	0	0	1	13090	755	27	1		1	RASSF6	4	74442417	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08		74442417	116711859	14	1223											
DSPP	1834	broad.mit.edu	37	chr4	88534401	88534401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatagagaaagcaaacgcGtagaaaatagaatcaccaaa	22	4	7	8	2	1	3	1	0	0	3	1	4	1	3	2	0	2	2	2	0	9	3	rs61738515	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:88534401G>A	ENST00000282478.7	+	3	1096	c.1063G>A	c.(1063-1065)Gta>Ata	p.V355I	DSPP_ENST00000399271.1_Missense_Mutation_p.V355I|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	355					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAAACGCGTAGAAAATAG	0.418													G|||	20	0.00399361	0.0136	0.0029	5008	,	,		20067	0		0	False		,,,				2504	0					uc003hqu.3																			0		p.R354H(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1063-1065)Gta>Ata		Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.		G	ILE/VAL	32,3730		0,32,1849	38	37	37		1063	2.9	0	4	dbSNP_129	37	1,8169		0,1,4084	yes	missense	DSPP	NM_014208.3	29	0,33,5933	AA,AG,GG		0.0122,0.8506,0.2766	possibly-damaging	355/1302	88534401	33,11899	1881	4085	5966	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534401G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1063G>A	4.37:g.88534401G>A	ENSP00000282478:p.Val355Ile						p.V355I	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	3	1183	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	355					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1063G>A	CCDS43248.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	12.59	1.982524	0.34942	0.008506	1.22E-4	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.90676	-2.71;-2.71	4.68	2.93	0.34026	.	0.635334	0.12002	N	0.508770	T	0.76521	0.3999	L	0.55481	1.735	0.09310	N	1	P	0.47350	0.894	B	0.37239	0.244	T	0.70059	-0.4976	10	0.42905	T	0.14	-0.4445	7.6755	0.28484	0.0916:0.1646:0.7438:0.0	rs61738515	355	Q9NZW4	DSPP_HUMAN	I	355	ENSP00000382213:V355I;ENSP00000282478:V355I	ENSP00000282478:V355I	V	+	1	0	DSPP	88753425	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.233000	0.17911	0.557000	0.29117	0.557000	0.71058	GTA		0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88534401	G	A	88534401	3	1	19	1	0	0	0	0	1	0	0	0	4782	1145	40	1	1073	1	DSPP	4	88534401	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	14091984	88534401	102619875	15	1224											
TRIM2	23321	broad.mit.edu	37	chr4	154215581	154215581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccagaagactttaaatGtgcgcaagagtgtgctgctt	11	11	11	8	1	0	3	0	0	0	3	1	3	1	3	1	0	4	4	1	0	4	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:154215581G>A	ENST00000437508.2	+	5	850	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	TRIM2_ENST00000338700.5_Missense_Mutation_p.V244M|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	217					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GACTTTAAATGTGCGCAAGAG	0.418																																						uc003inh.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(730-732)Gtg>Atg		Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.							144	126	132					4																	154215581		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154215581G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.649G>A	4.37:g.154215581G>A	ENSP00000415812:p.Val217Met					TRIM2_uc003ing.2_Missense_Mutation_p.V217M	p.V244M	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	4	815	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	217					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.730G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601902	0.87055	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.69561	-0.4;-0.41	6.17	6.17	0.99709	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.47716	1.5	0.54753	D	0.999982	P;P	0.50943	0.94;0.94	P;P	0.48030	0.564;0.564	T	0.70934	-0.4737	10	0.62326	D	0.03	-7.7904	20.8794	0.99867	0.0:0.0:1.0:0.0	.	244;217	D3DP09;Q9C040	.;TRIM2_HUMAN	M	217;244	ENSP00000415812:V217M;ENSP00000339659:V244M	ENSP00000339659:V244M	V	+	1	0	TRIM2	154435031	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.484000	0.81180	2.941000	0.99782	0.655000	0.94253	GTG		0.418	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			A	154215581	G	A	154215581	3	1	19	1	0	0	0	0	1	0	0	0	16491	1377	48	3	748	3	TRIM2	4	154215581	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	65681180	154215581	36938695	16	1225											
IL7R	3575	broad.mit.edu	37	chr5	35876389	35876389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctagactgcagggagagtgGcaagaatgggcctcatgtgt	10	8	15	8	0	1	3	1	0	0	3	1	4	1	3	2	3	1	2	2	3	3	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:35876389G>A	ENST00000303115.3	+	8	1310	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	394					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGGGAGAGTGGCAAGAATGGG	0.537			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1180-1182)gGc>gAc		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							97	86	90					5																	35876389		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876389G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1181G>A	5.37:g.35876389G>A	ENSP00000306157:p.Gly394Asp					IL7R_uc011cop.2_Non-coding_Transcript	p.G394D	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	1270	+	all_lung(31;0.00015)		394					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1181G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	g	1.253	-0.617932	0.03663	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.28895	2.06;1.59	5.6	-2.57	0.06248	.	1.973100	0.01553	N	0.019767	T	0.17534	0.0421	L	0.28274	0.84	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.06991	-1.0796	10	0.12766	T	0.61	-11.3915	1.9841	0.03433	0.4453:0.1286:0.2945:0.1315	.	394	P16871	IL7RA_HUMAN	D	394;160	ENSP00000306157:G394D;ENSP00000420923:G160D	ENSP00000306157:G394D	G	+	2	0	IL7R	35912146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.044000	0.12023	-0.999000	0.03442	-1.832000	0.00591	GGC		0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			A	35876389	G	A	35876389	3	1	19	1	0	0	0	0	1	0	0	0	7705	1203	42	3	1211	3	IL7R	5	35876389	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		35876389	145038871	17	1226											
UTP15	84135	broad.mit.edu	37	chr5	72864347	72864347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagatggtagattgcttGtggctggcagtgaagatggt	10	11	16	4	0	0	4	0	1	0	3	0	5	0	4	0	4	1	4	0	4	3	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:72864347G>A	ENST00000296792.4	+	4	541	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	UTP15_ENST00000508491.1_Missense_Mutation_p.V77M|UTP15_ENST00000543251.1_5'UTR|ANKRA2_ENST00000296785.3_5'Flank	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAGATTGCTTGTGGCTGGCAG	0.428																																						uc003kcw.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(286-288)Gtg>Atg		Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.							110	113	112					5																	72864347		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72864347G>A	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.286G>A	5.37:g.72864347G>A	ENSP00000296792:p.Val96Met					UTP15_uc011cso.1_Missense_Mutation_p.V77M|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.V96M|ANKRA2_uc003kcu.2_5'Flank	p.V96M	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	3	509	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	96					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.286G>A	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876895	0.91664	.	.	ENSG00000164338	ENST00000296792;ENST00000508491	T;T	0.21932	1.98;1.98	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109305	0.64402	D	0.000008	T	0.57902	0.2085	M	0.92122	3.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.68119	-0.5493	9	.	.	.	.	19.5283	0.95215	0.0:0.0:1.0:0.0	.	77;96	B4DXK8;Q8TED0	.;UTP15_HUMAN	M	96;77	ENSP00000296792:V96M;ENSP00000424609:V77M	.	V	+	1	0	UTP15	72900103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.360000	0.79487	2.596000	0.87737	0.655000	0.94253	GTG		0.428	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		A	72864347	G	A	72864347	3	1	19	1	0	0	0	0	1	0	0	0	17094	1377	48	3	296	3	UTP15	5	72864347	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	36987958	72864347	108050913	18	1227											
GRIA1	2890	broad.mit.edu	37	chr5	153190767	153190767	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagttcagggatgcccttGggagccacgggattgtaact	9	9	13	10	1	1	0	1	0	0	0	1	3	1	3	2	3	3	2	2	3	1	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:153190767G>A	ENST00000285900.5	+	16	3046	c.2703G>A	c.(2701-2703)ttG>ttA	p.L901L	GRIA1_ENST00000518142.1_Silent_p.L821L|GRIA1_ENST00000521843.2_Silent_p.L832L|GRIA1_ENST00000448073.4_Silent_p.L911L|GRIA1_ENST00000518783.1_Silent_p.L911L|GRIA1_ENST00000340592.5_Silent_p.L901L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	901					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGATGCCCTTGGGAGCCACGG	0.592																																						uc011dcy.2																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2731-2733)ttG>ttA		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						44	41	42					5																	153190767		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190767G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2703G>A	5.37:g.153190767G>A						GRIA1_uc003lva.4_Silent_p.L901L|GRIA1_uc003luy.4_Silent_p.L901L|GRIA1_uc003luz.4_Silent_p.L806L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L821L|GRIA1_uc011dcx.2_Silent_p.L832L|GRIA1_uc011dcz.2_Silent_p.L911L	p.L911L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		15	2760	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	901					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2733G>A	CCDS4322.1																																																																																				0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			A	153190767	G	A	153190767	2	1	19	1	0	0	0	0	0	0	0	1	6767	1339	47	3		3	GRIA1	5	153190767	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08	80326420	153190767	27724493	19	1228											
IRF4	3662	broad.mit.edu	37	chr6	398928	398928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtctgccgaagccttggcGttctcaggtgagtgcagggt	6	10	16	9	2	2	1	1	1	2	0	3	2	2	1	2	4	3	2	2	4	1	2	rs144395675	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:398928G>A	ENST00000380956.4	+	6	864	c.738G>A	c.(736-738)gcG>gcA	p.A246A		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	246					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGCCTTGGCGTTCTCAGGTG	0.592			T	IGH@	MM								G|||	2	0.000399361	8e-04	0	5008	,	,		19636	0		0	False		,,,				2504	0.001					uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(736-738)gcG>gcA		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	52	51	51		735,738	-3.2	1	6	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IRF4	NM_001195286.1,NM_002460.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	245/451,246/452	398928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398928G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.738G>A	6.37:g.398928G>A						IRF4_uc010jne.2_Silent_p.A246A|IRF4_uc003mtb.4_Silent_p.A245A|IRF4_uc021ykl.1_Silent_p.A92A|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Silent_p.A76A	p.A246A	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	864	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	246					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.738G>A	CCDS4469.1																																																																																				0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	398928	G	A	398928	2	1	19	1	0	0	0	0	0	0	0	1	7832	1132	40	1		1	IRF4	6	398928	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		398928	170716139	20	1229											
ECT2L	345930	broad.mit.edu	37	chr6	139208055	139208055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaatcatctggggatGccctgtatgtattcttagga	11	12	11	7	0	3	1	1	0	2	1	3	4	3	3	1	3	1	2	1	3	4	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:139208055G>A	ENST00000423192.1	+	18	2482	c.2321G>A	c.(2320-2322)tGc>tAc	p.C774Y	ECT2L_ENST00000541398.1_Missense_Mutation_p.C628Y|ECT2L_ENST00000367682.2_Missense_Mutation_p.C774Y			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	774							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGGGATGCCCTGTATGT	0.393			"N, Splice, Mis"		ETP ALL																																	uc003qif.2				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2320-2322)tGc>tAc		Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.							69	65	66					6																	139208055		1888	4102	5990	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139208055G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2321G>A	6.37:g.139208055G>A	ENSP00000387388:p.Cys774Tyr					ECT2L_uc021zfx.1_Missense_Mutation_p.C774Y|ECT2L_uc011edq.1_Missense_Mutation_p.C628Y	p.C774Y	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN			18	2646	+			774					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2321G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625072	0.66901	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79653	-0.08;-0.08;-1.29	5.48	5.48	0.80851	Dbl homology (DH) domain (1);	0.000000	0.47093	U	0.000248	D	0.86213	0.5879	M	0.76002	2.32	0.33194	D	0.55121	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.85039	0.0922	10	0.38643	T	0.18	-4.8331	15.1959	0.73088	0.0:0.0:1.0:0.0	.	628;774	F5H7S9;Q008S8	.;ECT2L_HUMAN	Y	774;774;628	ENSP00000387388:C774Y;ENSP00000356655:C774Y;ENSP00000442307:C628Y	ENSP00000356655:C774Y	C	+	2	0	ECT2L	139249748	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.161000	0.64935	2.738000	0.93877	0.655000	0.94253	TGC		0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139208055	G	A	139208055	3	1	19	1	0	0	0	0	1	0	0	0	4902	1319	46	3	2387	3	ECT2L	6	139208055	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	138809127	139208055	31907012	21	1230											
MAD1L1	8379	broad.mit.edu	37	chr7	1855850	1855850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagctgcatcttggaaccCgaggggctggtggcctgcgg	6	8	17	10	2	1	0	0	0	1	0	1	2	1	1	2	6	4	4	2	6	2	2	rs370594384		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:1855850C>T	ENST00000406869.1	-	19	2570	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	MAD1L1_ENST00000265854.7_Silent_p.S671S|MAD1L1_ENST00000402746.1_Silent_p.S579S|MAD1L1_ENST00000399654.2_Silent_p.S671S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	671					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTTGGAACCCGAGGGGCTGG	0.642																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(2011-2013)tcG>tcA		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.		C	,,	1,4047		0,1,2023	59	70	67		2013,2013,2013	1.9	1	7		67	0,8368		0,0,4184	no	coding-synonymous,coding-synonymous,coding-synonymous	MAD1L1	NM_001013836.1,NM_001013837.1,NM_003550.2	,,	0,1,6207	TT,TC,CC		0.0,0.0247,0.0081	,,	671/719,671/719,671/719	1855850	1,12415	2024	4184	6208	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1855850C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.2013G>A	7.37:g.1855850C>T						MAD1L1_uc003sle.1_Silent_p.S400S|MAD1L1_uc003slf.1_Silent_p.S671S|MAD1L1_uc003slg.1_Silent_p.S671S|MAD1L1_uc010ksh.1_Silent_p.S671S|MAD1L1_uc003sli.1_Silent_p.S579S|MAD1L1_uc003sld.1_Silent_p.S127S	p.S671S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2279	-		Ovarian(82;0.0272)	671					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.2013G>A	CCDS43539.1																																																																																				0.642	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		T	1855850	C	T	1855850	2	4	19	1	0	0	0	0	0	0	0	1	9147	639	23	2		2	MAD1L1	7	1855850	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08		1855850	157282813	22	1231											
ELN	2006	broad.mit.edu	37	chr7	73457353	73457353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaggagttggtggcttagGagtgtctgcaggtacgatgg	7	10	17	7	1	1	0	0	0	1	0	1	3	1	2	1	6	2	4	1	6	2	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73457353G>A	ENST00000252034.7	+	7	764	c.365G>A	c.(364-366)gGa>gAa	p.G122E	ELN_ENST00000358929.4_Missense_Mutation_p.G122E|ELN_ENST00000445912.1_Missense_Mutation_p.G122E|ELN_ENST00000380584.4_Missense_Mutation_p.G122E|ELN_ENST00000380575.4_Missense_Mutation_p.G112E|ELN_ENST00000458204.1_Missense_Mutation_p.G112E|ELN_ENST00000414324.1_Missense_Mutation_p.G112E|ELN_ENST00000380562.4_Missense_Mutation_p.G122E|ELN_ENST00000380576.5_Missense_Mutation_p.G122E|ELN_ENST00000429192.1_Missense_Mutation_p.G122E|ELN_ENST00000320492.7_Missense_Mutation_p.G110E|ELN_ENST00000357036.5_Missense_Mutation_p.G122E|ELN_ENST00000320399.6_Missense_Mutation_p.G122E|ELN_ENST00000380553.4_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	122					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGTGGCTTAGGAGTGTCTGCA	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															uc003tzw.3				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(364-366)gGa>gAa		Homo sapiens elastin (ELN), transcript variant 1, mRNA.	Rofecoxib(DB00533)						156	140	146					7																	73457353		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73457353G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.365G>A	7.37:g.73457353G>A	ENSP00000252034:p.Gly122Glu					ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.G122E|ELN_uc003tzy.3_Missense_Mutation_p.G112E|ELN_uc003tzz.3_Missense_Mutation_p.G110E|ELN_uc003tzo.3_Missense_Mutation_p.G122E|ELN_uc003tzp.3_Missense_Mutation_p.G112E|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G122E|ELN_uc003tzt.3_Missense_Mutation_p.G122E|ELN_uc003tzu.3_Missense_Mutation_p.G122E|ELN_uc003tzv.3_Missense_Mutation_p.G112E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G112E|ELN_uc011kff.2_Missense_Mutation_p.G122E	p.G122E	NM_000501	NP_001075224	P15502	ELN_HUMAN			6	456	+		Lung NSC(55;0.159)	122					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.365G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	g	12.21	1.869647	0.33069	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;1.0;-1.01;-1.01;-1.01;-1.01;1.0;1.0;-1.01;-1.01	4.72	3.83	0.44106	.	.	.	.	.	T	0.78521	0.4296	M	0.73598	2.24	0.44234	D	0.997077	P;P;P;P;P;P;P;P;P;P;P;P;P	0.46142	0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52710	0.707;0.49;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707	T	0.75634	-0.3250	9	0.06365	T	0.9	.	7.8678	0.29547	0.1107:0.0:0.8893:0.0	.	122;91;110;112;112;122;112;122;122;122;112;122;122	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	122;122;122;100;110;110;112;122;112;122;112;122;122;122;91;122;122;122	ENSP00000389857:G122E;ENSP00000252034:G122E;ENSP00000351807:G122E;ENSP00000394549:G100E;ENSP00000315607:G110E;ENSP00000406949:G110E;ENSP00000392575:G112E;ENSP00000369936:G122E;ENSP00000369949:G112E;ENSP00000369958:G122E;ENSP00000403162:G112E;ENSP00000349540:G122E;ENSP00000391129:G122E;ENSP00000369950:G122E;ENSP00000313565:G122E	ENSP00000252034:G122E	G	+	2	0	ELN	73095289	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	4.981000	0.63819	2.198000	0.70561	0.306000	0.20318	GGA		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73457353	G	A	73457353	3	1	19	1	0	0	0	0	1	0	0	0	5071	1174	41	3	391	3	ELN	7	73457353	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	71601503	73457353	85681310	23	1232											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73922465	73922465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggctgcggacccgacCgctggaactccgcgttcacc	7	5	11	18	6	1	0	1	0	0	0	2	3	2	2	5	3	3	3	5	3	2	1	rs139144176		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73922465C>T	ENST00000265755.3	+	2	448	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R19C	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	19					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACCCGACCGCTGGAACTC	0.642																																						uc003uaq.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(55-57)Cgc>Tgc		Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.							97	75	82					7																	73922465		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73922465C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.55C>T	7.37:g.73922465C>T	ENSP00000265755:p.Arg19Cys					GTF2IRD1_uc010lbq.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uap.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R19C	p.R19C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			1	448	+			19					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.55C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285332	0.59867	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.34275	1.38;1.37;1.38;1.38	4.57	3.62	0.41486	.	0.414509	0.23442	N	0.048124	T	0.33235	0.0856	N	0.22421	0.69	0.46981	D	0.999278	D;D;D;D	0.67145	0.978;0.996;0.983;0.994	B;B;P;P	0.50049	0.328;0.425;0.507;0.629	T	0.24977	-1.0145	10	0.72032	D	0.01	-10.1129	13.4666	0.61258	0.0:0.8423:0.1577:0.0	.	19;19;19;19	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	C	19	ENSP00000265755:R19C;ENSP00000397566:R19C;ENSP00000408477:R19C;ENSP00000418383:R19C	ENSP00000265755:R19C	R	+	1	0	GTF2IRD1	73560401	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.788000	0.47806	2.269000	0.75478	0.561000	0.74099	CGC		0.642	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		T	73922465	C	T	73922465	3	4	19	1	0	0	0	0	1	0	0	0	6868	652	23	2	57	2	GTF2IRD1	7	73922465	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	465112	73922465	85216198	24	1233											
NPTX2	4885	broad.mit.edu	37	chr7	98257925	98257925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagacgtgtgaggagcGtctccttgacttgtagccgc	6	10	15	10	4	1	3	0	2	1	1	2	5	1	4	2	2	2	1	2	2	1	3	rs369863365		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:98257925G>A	ENST00000265634.3	+	5	1445	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	427	Pentaxin.			R -> A (in Ref. 1; AAA68980/AAA92296). {ECO:0000305}.	synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGAGCGTCTCCTTGAC	0.582																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1279-1281)cGt>cAt		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		G	HIS/ARG	0,4402		0,0,2201	42	40	41		1280	5.1	0.9	7		41	1,8599		0,1,4299	no	missense	NPTX2	NM_002523.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	427/432	98257925	1,13001	2201	4300	6501	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257925G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1280G>A	7.37:g.98257925G>A	ENSP00000265634:p.Arg427His						p.R427H	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1457	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		427	R -> A (in Ref. 1; AAA68980/AAA92296).		Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1280G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762101	0.89932	0.0	1.16E-4	ENSG00000106236	ENST00000265634	T	0.12255	2.7	5.94	5.06	0.68205	.	0.148621	0.64402	D	0.000007	T	0.37865	0.1019	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.23940	-1.0174	10	0.72032	D	0.01	-6.0998	15.721	0.77710	0.0:0.0:0.8624:0.1376	.	427	P47972	NPTX2_HUMAN	H	427	ENSP00000265634:R427H	ENSP00000265634:R427H	R	+	2	0	NPTX2	98095861	1.000000	0.71417	0.946000	0.38457	0.752000	0.42762	9.702000	0.98712	1.516000	0.48900	-0.310000	0.09108	CGT		0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		A	98257925	G	A	98257925	3	1	19	1	0	0	0	0	1	0	0	0	10603	1145	40	1	1298	1	NPTX2	7	98257925	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	24335460	98257925	60880738	25	1234											
AZGP1	563	broad.mit.edu	37	chr7	99564820	99564820	+	Frame_Shift_Del	DEL	T	T	-																															ccgagtccagtgcacatcaaTtttccctgggtagaagtcgt																										TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:99564820delT	ENST00000292401.4	-	4	839	c.703delA	c.(703-705)attfs	p.I235fs	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	235	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCACATCAATTTTCCCTGGG	0.567																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(703-705)attfs		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							39	37	38					7																	99564820		2203	4296	6499	SO:0001589	frameshift_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564820delT	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.703delA	7.37:g.99564820delT	ENSP00000292401:p.Ile235fs						p.I235fs	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	795	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		235			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Frame_Shift_Del	DEL	ENST00000292401.4	37	c.703delA	CCDS5680.1																																																																																				0.567	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		-	99564820	T	-	99564820	7	5	19	1	0	1	0	1	0	0	0	0	1239	1493	52	0	197	0	AZGP1	7	99564820	Frame_Shift_Del	DEL	T	TCGA-06-0140-01A-01D-1490-08	1306895	99564820	59573843	26	1235											
REPIN1	29803	broad.mit.edu	37	chr7	150068350	150068350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggaacgtcgttgcaGgggccccctggccatgggcc	5	7	16	13	2	0	0	0	0	0	0	1	2	0	1	4	5	3	3	4	5	1	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:150068350G>A	ENST00000425389.2	+	1	98	c.20G>A	c.(19-21)aGg>aAg	p.R7K	REPIN1_ENST00000466559.1_Missense_Mutation_p.G25R|REPIN1_ENST00000518514.1_Silent_p.Q55Q|REPIN1_ENST00000518462.1_3'UTR|REPIN1_ENST00000479668.1_Missense_Mutation_p.G106R|REPIN1_ENST00000540729.1_Missense_Mutation_p.R7K|REPIN1_ENST00000482680.1_Missense_Mutation_p.G106R|REPIN1_ENST00000489432.2_Missense_Mutation_p.R64K|REPIN1_ENST00000444957.1_Missense_Mutation_p.R7K|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.R7K	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	7					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGTCGTTGCAGGGGCCCCCTG	0.647																																						uc010lpr.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(190-192)aGg>aAg		Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.							12	17	15					7																	150068350		1930	4113	6043	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068350G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.20G>A	7.37:g.150068350G>A	ENSP00000388287:p.Arg7Lys					REPIN1_uc003whd.2_5'UTR|REPIN1_uc010lpq.1_Missense_Mutation_p.R7K|REPIN1_uc003whc.2_Missense_Mutation_p.R7K|REPIN1_uc003whe.2_Missense_Mutation_p.R7K	p.R64K	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	384	+	Ovarian(565;0.183)|Melanoma(164;0.226)		7					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.191G>A	CCDS43677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.353760|2.353760	0.41700|0.41700	.|.	.|.	ENSG00000214022|ENSG00000214022	ENST00000479668;ENST00000466559;ENST00000482680|ENST00000519397;ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000461637;ENST00000425389	.|T;T;T;T;T;T;T;T	.|0.08102	.|5.67;3.21;3.21;3.21;3.13;3.49;3.26;3.21	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22080	.|0.064;0.064	.|B;B	.|0.17722	.|0.019;0.012	T|T	0.35992|0.35992	-0.9766|-0.9766	6|9	0.87932|0.62326	D|D	0|0.03	-19.2051|-19.2051	6.8101|6.8101	0.23799|0.23799	0.2045:0.0:0.7955:0.0|0.2045:0.0:0.7955:0.0	.|.	.|64;7	.|C9J3L7;Q9BWE0	.|.;REPI1_HUMAN	R|K	106;25;106|7;7;7;7;64;66;67;64;7	.|ENSP00000428562:R7K;ENSP00000445016:R7K;ENSP00000380451:R7K;ENSP00000407714:R7K;ENSP00000417291:R64K;ENSP00000419789:R66K;ENSP00000419872:R67K;ENSP00000388287:R7K	ENSP00000418507:G25R|ENSP00000380451:R7K	G|R	+|+	1|2	0|0	REPIN1|REPIN1	149699283|149699283	0.206000|0.206000	0.23470|0.23470	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	0.821000|0.821000	0.27338|0.27338	1.173000|1.173000	0.42796|0.42796	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.647	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150068350	G	A	150068350	3	1	19	1	0	0	0	0	1	0	0	0	13227	1000	35	3	197	3	REPIN1	7	150068350	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	50503530	150068350	9070313	27	1236											
C9orf96	169436	broad.mit.edu	37	chr9	136260823	136260823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagcagatcccggatGtggaaaccttcaggaatctt	13	8	12	8	1	2	2	1	0	1	2	3	6	3	5	2	4	2	1	2	4	3	2	rs587748084		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr9:136260823G>T	ENST00000371957.3	+	9	906	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GATCCCGGATGTGGAAACCTT	0.552																																						uc004cdk.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(799-801)Gtg>Ttg		Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.							88	91	90					9																	136260823		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136260823G>T																												ENST00000371957.3:c.799G>T	9.37:g.136260823G>T	ENSP00000361025:p.Val267Leu					C9orf96_uc004cdl.3_Non-coding_Transcript	p.V267L	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	8	860	+			267			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.799G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	1.956	-0.439953	0.04636	.	.	ENSG00000198870	ENST00000371957	T	0.19806	2.12	4.86	0.676	0.17958	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.749870	0.12158	N	0.494252	T	0.07503	0.0189	N	0.02685	-0.53	0.09310	N	0.999997	B	0.22746	0.074	B	0.17979	0.02	T	0.29427	-1.0012	10	0.49607	T	0.09	-3.7061	3.5295	0.07771	0.1978:0.0:0.4559:0.3463	.	267	Q8NE28	SGK71_HUMAN	L	267	ENSP00000361025:V267L	ENSP00000361025:V267L	V	+	1	0	C9orf96	135250644	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.295000	0.19065	-0.075000	0.12798	-0.475000	0.04921	GTG		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			T	136260823	G	T	136260823	3	4	19	1	0	0	0	0	1	0	0	0	2508	1377	48	5	833	5	C9orf96	9	136260823	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		136260823	4952608	28	1237											
SLC18A2	6571	broad.mit.edu	37	chr10	119003545	119003545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctacagaaatccagaCggccaggccagtgcacactg	13	5	11	12	1	0	2	0	0	0	2	1	3	1	2	3	2	3	2	3	2	3	1	rs140529367		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:119003545C>T	ENST00000298472.5	+	3	328	c.185C>T	c.(184-186)aCg>aTg	p.T62M	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493																																						uc001ldd.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(184-186)aCg>aTg		Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	C	MET/THR	0,4406		0,0,2203	85	74	78		185	5.8	1	10	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC18A2	NM_003054.4	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	62/515	119003545	3,13003	2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003545C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.185C>T	10.37:g.119003545C>T	ENSP00000298472:p.Thr62Met					SLC18A2_uc009xyy.2_5'UTR	p.T62M	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	2	348	+		Colorectal(252;0.19)	62					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.185C>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.871047	0.33069	0.0	3.49E-4	ENSG00000165646	ENST00000298472	T	0.03982	3.74	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268601	0.40640	N	0.001041	T	0.11110	0.0271	L	0.32530	0.975	0.38217	D	0.940652	D	0.69078	0.997	P	0.56788	0.806	T	0.15009	-1.0452	10	0.33141	T	0.24	-28.1579	18.2891	0.90123	0.0:1.0:0.0:0.0	.	62	Q05940	VMAT2_HUMAN	M	62	ENSP00000298472:T62M	ENSP00000298472:T62M	T	+	2	0	SLC18A2	118993535	0.997000	0.39634	0.961000	0.40146	0.036000	0.12997	3.803000	0.55560	2.756000	0.94617	0.563000	0.77884	ACG		0.493	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		T	119003545	C	T	119003545	3	4	19	1	0	0	0	0	1	0	0	0	14426	536	19	1	191	1	SLC18A2	10	119003545	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		119003545	16531202	29	1238											
CLRN3	119467	broad.mit.edu	37	chr10	129682096	129682096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaacaggatagtcacCgaatgcagagttttttggga	13	9	12	7	1	1	1	1	0	0	1	1	5	1	4	2	3	2	2	2	3	3	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:129682096C>T	ENST00000368671.3	-	2	435	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGATAGTCACCGAATGCAGAG	0.448																																						uc001lka.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(271-273)tcG>tcA		Homo sapiens clarin 3 (CLRN3), mRNA.							131	122	125					10																	129682096		2203	4300	6503	SO:0001819	synonymous_variant	119467					integral to membrane		g.chr10:129682096C>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.273G>A	10.37:g.129682096C>T						CLRN3_uc001ljz.1_Silent_p.S23S	p.S91S	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN			1	436	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	91					Q6MZX8	Silent	SNP	ENST00000368671.3	37	c.273G>A	CCDS7656.1																																																																																				0.448	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		T	129682096	C	T	129682096	2	4	19	1	0	0	0	0	0	0	0	1	3559	639	23	2		2	CLRN3	10	129682096	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	10678551	129682096	5852651	30	1239											
OR51G1	79324	broad.mit.edu	37	chr11	4945520	4945520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagaccttggaagcccGtcaggaagaaagtggctctt	10	10	11	10	1	3	2	1	0	2	2	3	4	3	4	2	3	1	1	2	3	4	4	rs376397711		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4945520G>A	ENST00000321961.2	-	1	117	c.50C>T	c.(49-51)aCg>aTg	p.T17M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGAAGCCCGTCAGGAAGAA	0.458																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(49-51)aCg>aTg		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.		G	MET/THR	0,4402		0,0,2201	56	54	55		50	1.3	0.9	11		55	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51G1	NM_001005237.1	81	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	17/322	4945520	1,12997	2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945520G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.50C>T	11.37:g.4945520G>A	ENSP00000322546:p.Thr17Met						p.T17M	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	50	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	17					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.50C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	4.192	0.034282	0.08101	0.0	1.16E-4	ENSG00000176879	ENST00000321961	T	0.00301	8.21	4.32	1.28	0.21552	.	0.175198	0.27245	U	0.020246	T	0.00144	0.0004	L	0.38953	1.18	0.21527	N	0.999659	B	0.31100	0.308	B	0.19391	0.025	T	0.39354	-0.9618	10	0.51188	T	0.08	.	8.9735	0.35921	0.3533:0.0:0.6467:0.0	.	17	Q8NGK1	O51G1_HUMAN	M	17	ENSP00000322546:T17M	ENSP00000322546:T17M	T	-	2	0	OR51G1	4902096	0.000000	0.05858	0.893000	0.35052	0.262000	0.26303	-0.465000	0.06680	0.123000	0.18342	-1.151000	0.01829	ACG		0.458	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		A	4945520	G	A	4945520	3	1	19	1	0	0	0	0	1	0	0	0	11098	1145	40	1	917	1	OR51G1	11	4945520	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		4945520	130060996	31	1240											
OR51A2	401667	broad.mit.edu	37	chr11	4976936	4976936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacatatgatgtgttgataAtggacatgattcattcatag	14	14	8	5	0	2	3	2	3	0	0	2	4	2	4	0	1	1	1	0	1	4	6			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4976936A>G	ENST00000380371.1	-	1	7	c.8T>C	c.(7-9)aTt>aCt	p.I3T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTTGATAATGGACATGAT	0.428																																						uc010qyt.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(7-9)aTt>aCt		Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.							49	49	49					11																	4976936		2166	4279	6445	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976936A>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.8T>C	11.37:g.4976936A>G	ENSP00000369729:p.Ile3Thr						p.I3T	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	8	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	3						Missense_Mutation	SNP	ENST00000380371.1	37	c.8T>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	0.450	-0.894244	0.02491	.	.	ENSG00000205496	ENST00000380371	T	0.00333	8.07	2.58	0.18	0.15068	.	.	.	.	.	T	0.00144	0.0004	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05835	-1.0861	9	0.17369	T	0.5	.	4.3154	0.10991	0.6512:0.0:0.3488:0.0	.	3	Q8NGJ7	O51A2_HUMAN	T	3	ENSP00000369729:I3T	ENSP00000369729:I3T	I	-	2	0	OR51A2	4933512	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.430000	0.02434	0.223000	0.20920	0.403000	0.27427	ATT		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		G	4976936	A	G	4976936	3	3	19	1	0	0	0	0	1	0	0	0	11086	101	4	4	935	4	OR51A2	11	4976936	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08	31416	4976936	130029580	32	1241											
MS4A7	58475	broad.mit.edu	37	chr11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaaagagttcttcacGgtcttggatataagtaactc	13	12	9	7	1	4	1	2	0	2	1	5	2	4	2	0	3	1	2	0	3	5	6			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:60161321G>A	ENST00000300184.3	+	7	906	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000395005.2_5'Flank|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000395001.1_5'Flank|MS4A14_ENST00000531783.1_5'Flank|MS4A14_ENST00000300187.6_5'Flank	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373																																						uc001npe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(709-711)cGg>cAg		Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.							101	100	100					11																	60161321		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60161321G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.710G>A	11.37:g.60161321G>A	ENSP00000300184:p.Arg237Gln					MS4A7_uc001npf.3_Missense_Mutation_p.R237Q|MS4A7_uc001npg.3_Missense_Mutation_p.R192Q|MS4A7_uc001nph.3_Missense_Mutation_p.R192Q|MS4A14_uc001npi.3_Intron	p.R237Q	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			6	855	+			237					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.710G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622277	0.14193	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016	T;T;T	0.17213	3.05;2.29;2.29	3.58	-6.55	0.01854	.	13.363400	0.00777	N	0.001246	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27191	-1.0081	10	0.12430	T	0.62	-18.0862	7.1042	0.25354	0.4651:0.0:0.4238:0.1112	.	192;237	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	Q	237;192;192	ENSP00000300184:R237Q;ENSP00000350983:R192Q;ENSP00000434637:R192Q	ENSP00000300184:R237Q	R	+	2	0	MS4A7	59917897	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.122000	0.10627	-1.935000	0.01049	-1.583000	0.00853	CGG		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			A	60161321	G	A	60161321	3	1	19	1	0	0	0	0	1	0	0	0	9866	1116	39	2	732	2	MS4A7	11	60161321	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	55184385	60161321	74845195	33	1242											
VWCE	220001	broad.mit.edu	37	chr11	61032003	61032003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaagcagggcagggtcgGcacaggcccgctggcaggga	9	2	19	11	2	0	0	0	0	0	0	1	2	0	2	1	7	1	5	1	7	1	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:61032003G>A	ENST00000335613.5	-	19	2572	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	VWCE_ENST00000535710.1_Missense_Mutation_p.A194V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	729	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCAGGGTCGGCACAGGCCCG	0.592																																						uc001nra.3																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2185-2187)gCc>gTc		Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.							51	44	46					11																	61032003		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61032003G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2186C>T	11.37:g.61032003G>A	ENSP00000334186:p.Ala729Val					VWCE_uc001nrb.3_Non-coding_Transcript	p.A729V	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			18	2465	-			729			VWFC 6.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2186C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	7.538	0.660188	0.14645	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.72725	-0.68;-0.68	4.76	2.89	0.33648	von Willebrand factor, type C (4);	0.807723	0.10258	N	0.696358	T	0.61311	0.2337	L	0.39397	1.21	0.09310	N	1	B	0.23650	0.089	B	0.29077	0.098	T	0.49437	-0.8940	10	0.26408	T	0.33	.	8.1142	0.30933	0.1893:0.0:0.8107:0.0	.	729	Q96DN2	VWCE_HUMAN	V	729;194	ENSP00000334186:A729V;ENSP00000442570:A194V	ENSP00000334186:A729V	A	-	2	0	VWCE	60788579	0.041000	0.20044	0.000000	0.03702	0.163000	0.22366	2.460000	0.45031	0.439000	0.26476	0.555000	0.69702	GCC		0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		A	61032003	G	A	61032003	3	1	19	1	0	0	0	0	1	0	0	0	17242	1203	42	3	689	3	VWCE	11	61032003	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	870682	61032003	73974513	34	1243											
HTR3A	3359	broad.mit.edu	37	chr11	113857684	113857684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggttctggagagaatcGcctggctactttgcctgagg	7	11	13	10	1	1	2	0	1	1	1	2	4	1	3	3	4	2	2	3	4	2	3	rs528104456		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:113857684G>A	ENST00000504030.2	+	8	1499	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	HTR3A_ENST00000375498.2_Missense_Mutation_p.A358T|HTR3A_ENST00000299961.5_Missense_Mutation_p.A337T|HTR3A_ENST00000355556.2_Missense_Mutation_p.A390T|HTR3A_ENST00000535865.1_Missense_Mutation_p.A96T|HTR3A_ENST00000506841.2_Missense_Mutation_p.A384T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	352					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.A384T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GGAGAGAATCGCCTGGCTACT	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		17996	0		0	False		,,,				2504	0					uc010rxb.2																			1	Substitution - Missense(1)	p.A384T(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1168-1170)Gcc>Acc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						47	45	46					11																	113857684		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857684G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1054G>A	11.37:g.113857684G>A	ENSP00000424189:p.Ala352Thr					HTR3A_uc010rxa.2_Missense_Mutation_p.A358T|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.A337T	p.A390T	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1401	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	352					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1168G>A		.	.	.	.	.	.	.	.	.	.	G	10.48	1.363142	0.24684	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85088	-1.94;-0.59;-1.94;-0.59;-1.94;-1.94	5.37	-1.01	0.10169	.	0.470449	0.25978	N	0.027093	T	0.74711	0.3752	L	0.39633	1.23	0.20074	N	0.999934	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12156	0.004;0.002;0.007	T	0.63216	-0.6687	10	0.66056	D	0.02	-21.0874	6.3549	0.21397	0.5467:0.0:0.326:0.1272	.	337;390;358	B4DSY6;G5E986;Q7KZM7	.;.;.	T	352;390;358;384;96;337	ENSP00000424189:A352T;ENSP00000347754:A390T;ENSP00000364648:A358T;ENSP00000424776:A384T;ENSP00000437776:A96T;ENSP00000299961:A337T	ENSP00000299961:A337T	A	+	1	0	HTR3A	113362894	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.015000	0.13355	-0.386000	0.07821	-0.254000	0.11334	GCC		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113857684	G	A	113857684	3	1	19	1	0	0	0	0	1	0	0	0	7444	1087	38	1	1220	1	HTR3A	11	113857684	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	52825681	113857684	21148832	35	1244											
C12orf51	283450	broad.mit.edu	37	chr12	112721040	112721040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaatgcttttggcagattCgccctcttttctcattagaa	9	17	6	9	1	2	2	1	0	2	2	4	2	2	2	1	1	1	2	1	1	3	7			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr12:112721040C>T	ENST00000430131.2	-	8	1365	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E324K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E324K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	74					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGGCAGATTCGCCCTCTTTT	0.433																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(970-972)Gaa>Aaa		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							107	96	100					12																	112721040		1890	4117	6007	SO:0001583	missense	283450							g.chr12:112721040C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.220G>A	12.37:g.112721040C>T	ENSP00000404379:p.Glu74Lys						p.E324K	NM_001109662	NP_001103132					7	1366	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.970G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.194523	0.94960	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51574	0.72;0.77;0.7	5.75	5.75	0.90469	.	.	.	.	.	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	P	0.44006	0.824	B	0.25140	0.058	T	0.34925	-0.9809	9	0.87932	D	0	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	74	Q9Y4D8	K0614_HUMAN	K	324;74;324	ENSP00000366783:E324K;ENSP00000404379:E74K;ENSP00000449784:E324K	ENSP00000366783:E324K	E	-	1	0	C12orf51	111205423	1.000000	0.71417	0.963000	0.40424	0.979000	0.70002	7.456000	0.80751	2.732000	0.93576	0.655000	0.94253	GAA		0.433	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112721040	C	T	112721040	3	4	19	1	0	0	0	0	1	0	0	0	1696	893	31	2	12042	2	C12orf51	12	112721040	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		112721040	21130855	36	1245											
RB1	5925	broad.mit.edu	37	chr13	48951144	48951144	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctaaagctgtgggaCagggttgtgtcgaaattgga	11	12	14	4	1	0	0	0	0	0	0	1	3	0	2	0	3	2	3	0	3	4	4	rs4151534		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr13:48951144C>T	ENST00000267163.4	+	13	1444	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	436	Domain A.|Pocket; binds T and E1A.		Q -> K (in dbSNP:rs4151534). {ECO:0000269|Ref.7}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGCTGTGGGACAGGGTTGTGT	0.353		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)|p.G435*(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CI030636	RB1	I	rs4151534	c.(1306-1308)Cag>Tag		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111	120	117					13																	48951144		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951144C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1306C>T	13.37:g.48951144C>T	ENSP00000267163:p.Gln436*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.Q137*	p.Q436*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1472	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	436		Q -> K (in dbSNP:rs4151534).	Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1306C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.634573	0.98403	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	0.057982	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	X	415;436	.	ENSP00000267163:Q436X	Q	+	1	0	RB1	47849145	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.809000	0.75211	2.814000	0.96858	0.591000	0.81541	CAG		0.353	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	48951144	C	T	48951144	4	4	19	1	0	0	0	0	0	1	0	0	13098	479	17	3	1356	3	RB1	13	48951144	Nonsense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		48951144	66218734	37	1246											
C14orf115	55237	broad.mit.edu	37	chr14	74825422	74825422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctggtgatggacatgAtcgctaccacgaagttcaag	11	9	13	8	2	1	2	1	2	0	0	2	5	1	4	1	3	2	3	1	3	3	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr14:74825422A>G	ENST00000256362.4	+	2	2177	c.1936A>G	c.(1936-1938)Atc>Gtc	p.I646V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	646					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GATGGACATGATCGCTACCAC	0.617																																						uc021rwl.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1936-1938)Atc>Gtc		Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.							69	53	59					14																	74825422		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825422A>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1936A>G	14.37:g.74825422A>G	ENSP00000256362:p.Ile646Val					VRTN_uc001xpw.4_Missense_Mutation_p.I646V	p.I646V	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN			0	1936	+			646					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1936A>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.190784	0.01607	.	.	ENSG00000133980	ENST00000256362	T	0.40756	1.02	4.28	0.897	0.19258	.	0.350529	0.24686	U	0.036440	T	0.18002	0.0432	N	0.04508	-0.205	0.23758	N	0.99693	B	0.11235	0.004	B	0.06405	0.002	T	0.24190	-1.0167	10	0.10377	T	0.69	-11.8134	12.2008	0.54323	0.3852:0.6148:0.0:0.0	.	646	Q9H8Y1	VRTN_HUMAN	V	646	ENSP00000256362:I646V	ENSP00000256362:I646V	I	+	1	0	VRTN	73895175	1.000000	0.71417	0.454000	0.27019	0.097000	0.18754	3.356000	0.52269	0.012000	0.14892	0.397000	0.26171	ATC		0.617	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		G	74825422	A	G	74825422	3	3	19	1	0	0	0	0	1	0	0	0	1740	333	12	4	1938	4	C14orf115	14	74825422	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08		74825422	32524118	38	1247											
ATP10A	57194	broad.mit.edu	37	chr15	25925003	25925003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagtccttcgggaggcGtccctgagcaaaggtctctt	6	10	12	13	3	1	1	0	1	1	0	6	3	4	2	3	3	1	1	3	3	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:25925003G>A	ENST00000356865.6	-	21	4096	c.3985C>T	c.(3985-3987)Cgc>Tgc	p.R1329C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1329					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCGGGAGGCGTCCCTGAGCA	0.607																																						uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3985-3987)Cgc>Tgc		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							71	73	73					15																	25925003		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925003G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3985C>T	15.37:g.25925003G>A	ENSP00000349325:p.Arg1329Cys						p.R1329C	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	4091	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1329					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3985C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101615	0.20632	.	.	ENSG00000206190	ENST00000356865	T	0.39997	1.05	5.79	0.756	0.18421	.	2.634810	0.01113	N	0.005604	T	0.25791	0.0628	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30650	-0.9971	10	0.42905	T	0.14	-0.325	11.4608	0.50208	0.3:0.0:0.7:0.0	.	1329	O60312	AT10A_HUMAN	C	1329	ENSP00000349325:R1329C	ENSP00000349325:R1329C	R	-	1	0	ATP10A	23476096	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.037000	0.30241	-0.100000	0.12241	-1.708000	0.00717	CGC		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	25925003	G	A	25925003	3	1	19	1	0	0	0	0	1	0	0	0	1116	1145	40	1	518	1	ATP10A	15	25925003	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		25925003	76606389	39	1248											
RASGRP1	10125	broad.mit.edu	37	chr15	38818585	38818585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaacagttggttacttcGacacaggtttccatctgcat	9	14	8	10	1	1	0	0	0	1	0	3	1	2	0	1	2	4	5	1	2	2	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:38818585G>A	ENST00000310803.5	-	3	418	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.R81*|RP11-275I4.1_ENST00000559544.1_RNA|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.R132*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.R81*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.R81*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.R33*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	81	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.|Ras exchanger motif region; required for transforming activity. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGTTACTTCGACACAGGTTT	0.458																																						uc001zke.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(241-243)Cga>Tga		Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.							118	115	116					15																	38818585		1948	4140	6088	SO:0001587	stop_gained	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38818585G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.241C>T	15.37:g.38818585G>A	ENSP00000310244:p.Arg81*					RASGRP1_uc001zkd.4_Nonsense_Mutation_p.R81*	p.R81*	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	419	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	81			N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	c.241C>T	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013932	0.54468	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	4.62	4.62	0.57501	.	0.342954	0.31566	N	0.007436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1592	13.5185	0.61553	0.0:0.0:0.8435:0.1565	.	.	.	.	X	81;81;81;81;33;81;81	.	ENSP00000310244:R81X	R	-	1	2	RASGRP1	36605877	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.069000	0.41481	2.395000	0.81488	0.462000	0.41574	CGA		0.458	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		A	38818585	G	A	38818585	4	1	19	1	0	0	0	0	0	1	0	0	13074	1066	37	2	2212	2	RASGRP1	15	38818585	Nonsense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	12893582	38818585	63712807	40	1249											
FAM86A	196483	broad.mit.edu	37	chr16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttctgagagaaagcaccGggcatatttgacggacggcg	11	7	15	8	4	1	3	0	2	1	1	1	6	1	4	1	3	1	3	1	3	2	3	rs537216471		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:5143514G>A	ENST00000427587.4	-	3	279	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R71W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	71						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													G|||	1	0.000199681	0	0	5008	,	,		19614	0		0	False		,,,				2504	0.001					uc002cyo.2																			0		p.A70P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(211-213)Cgg>Tgg		Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.							71	66	68					16																	5143514		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5143514G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.211C>T	16.37:g.5143514G>A	ENSP00000398502:p.Arg71Trp					FAM86A_uc002cyp.2_Missense_Mutation_p.R71W	p.R71W	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			2	260	-			71					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.211C>T	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	4.650	0.120864	0.08881	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.19669	2.13;2.13	4.06	2.07	0.26955	.	0.148508	0.42964	U	0.000627	T	0.06826	0.0174	N	0.01874	-0.695	0.09310	N	1	B;B	0.25850	0.136;0.017	B;B	0.14023	0.01;0.002	T	0.26573	-1.0099	10	0.54805	T	0.06	.	6.739	0.23424	0.2225:0.0:0.7775:0.0	.	71;71	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	71	ENSP00000389710:R71W;ENSP00000398502:R71W	ENSP00000398502:R71W	R	-	1	2	FAM86A	5083515	0.468000	0.25839	0.003000	0.11579	0.236000	0.25371	3.143000	0.50608	0.378000	0.24764	-0.463000	0.05309	CGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		A	5143514	G	A	5143514	3	1	19	1	0	0	0	0	1	0	0	0	5643	1115	39	2	805	2	FAM86A	16	5143514	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		5143514	85211239	41	1250											
DNAH3	55567	broad.mit.edu	37	chr16	20976074	20976074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttatgggatcccctaaCgtgtggctgagactgaagtc	9	13	11	8	1	0	2	0	2	0	1	2	4	1	3	2	2	1	1	2	2	3	4	rs149630157	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:20976074C>T	ENST00000261383.3	-	53	9131	c.9132G>A	c.(9130-9132)acG>acA	p.T3044T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3044					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCCCCTAACGTGTGGCTGA	0.498																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9130-9132)acG>acA		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		C		7,4395	12.9+/-30.5	0,7,2194	75	67	70		9132	-11.2	0	16	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,7,6494	TT,TC,CC		0.0,0.159,0.0538		3044/4117	20976074	7,12995	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976074C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9132G>A	16.37:g.20976074C>T						DNAH3_uc010vbd.2_Silent_p.T479T	p.T3044T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	9132	-			3044					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9132G>A	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20976074	C	T	20976074	2	4	19	1	0	0	0	0	0	0	0	1	4603	523	19	1		1	DNAH3	16	20976074	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	15832560	20976074	69378679	42	1251											
KIFC3	3801	broad.mit.edu	37	chr16	57794781	57794781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgacagcgacttgttgaTgtgctgcgcctcccgcaggc	6	8	13	14	4	0	1	0	1	0	0	1	3	1	1	3	1	4	3	3	1	0	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:57794781T>C	ENST00000379655.4	-	16	2346	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	KIFC3_ENST00000543930.1_Missense_Mutation_p.I555V|KIFC3_ENST00000421376.2_Missense_Mutation_p.I558V|KIFC3_ENST00000540079.2_Missense_Mutation_p.I595V|KIFC3_ENST00000445690.2_Missense_Mutation_p.I697V|KIFC3_ENST00000541240.1_Missense_Mutation_p.I719V|KIFC3_ENST00000539578.1_Missense_Mutation_p.I639V|KIFC3_ENST00000562903.1_Missense_Mutation_p.I558V|KIFC3_ENST00000465878.2_Missense_Mutation_p.I558V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	697	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GACTTGTTGATGTGCTGCGCC	0.682																																						uc002emq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2089-2091)Atc>Gtc		Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.							37	39	38					16																	57794781		2198	4299	6497	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57794781T>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2089A>G	16.37:g.57794781T>C	ENSP00000368976:p.Ile697Val					KIFC3_uc010vhw.2_Missense_Mutation_p.I595V|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.I558V|KIFC3_uc010vhx.2_Missense_Mutation_p.I555V|KIFC3_uc010cdf.3_Missense_Mutation_p.I558V|KIFC3_uc002emo.4_Missense_Mutation_p.I558V|KIFC3_uc010vhy.2_Missense_Mutation_p.I639V|KIFC3_uc002emp.3_Missense_Mutation_p.I697V|KIFC3_uc010vhz.2_Missense_Mutation_p.I719V	p.I697V	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN			15	2286	-		all_neural(199;0.224)	697			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.2089A>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372064	0.82573	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.99	4.99	0.66335	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.88640	2.97	0.80722	D	1	P;P;D;P;P;P	0.54047	0.689;0.863;0.964;0.956;0.689;0.643	P;P;P;D;P;P	0.63488	0.691;0.689;0.793;0.915;0.7;0.591	D	0.93003	0.6425	10	0.87932	D	0	.	13.8649	0.63583	0.0:0.0:0.0:1.0	.	719;639;555;595;697;558	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	V	697;697;558;719;595;555;639	ENSP00000368976:I697V;ENSP00000401696:I697V;ENSP00000396399:I558V;ENSP00000442008:I719V;ENSP00000438805:I595V;ENSP00000444012:I555V;ENSP00000444884:I639V	ENSP00000368976:I697V	I	-	1	0	KIFC3	56352282	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	8.015000	0.88690	1.897000	0.54924	0.172000	0.16884	ATC		0.682	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		C	57794781	T	C	57794781	3	2	19	1	0	0	0	0	1	0	0	0	8314	1464	51	4	437	4	KIFC3	16	57794781	Missense_Mutation	SNP	T	TCGA-06-0140-01A-01D-1490-08	36818707	57794781	32559972	43	1252											
CHST6	4166	broad.mit.edu	37	chr16	75513386	75513386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtcggacaggttgcggCgccaaggcagataggcatca	11	5	16	9	3	1	2	1	0	0	2	2	3	1	3	1	6	1	3	1	6	2	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:75513386C>T	ENST00000332272.4	-	3	520	c.341G>A	c.(340-342)cGc>cAc	p.R114H	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R114H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	114					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGTTGCGGCGCCAAGGCAG	0.672																																						uc021tlj.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(340-342)cGc>cAc		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.							50	44	46					16																	75513386		2198	4298	6496	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513386C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.341G>A	16.37:g.75513386C>T	ENSP00000328983:p.Arg114His					CHST6_uc002fef.3_Missense_Mutation_p.R114H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R114H	p.R114H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			0	341	-			114					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.341G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714535	0.30413	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.82344	-1.6;-1.6	4.56	3.36	0.38483	Sulfotransferase domain (1);	0.518660	0.17967	N	0.155986	T	0.76047	0.3933	L	0.47716	1.5	0.09310	N	0.999994	B	0.09022	0.002	B	0.13407	0.009	T	0.63413	-0.6643	10	0.31617	T	0.26	.	10.7793	0.46369	0.0:0.8857:0.0:0.1143	.	114	Q9GZX3	CHST6_HUMAN	H	114	ENSP00000328983:R114H;ENSP00000375079:R114H	ENSP00000328983:R114H	R	-	2	0	CHST6	74070887	0.706000	0.27856	0.996000	0.52242	0.981000	0.71138	1.533000	0.36040	2.078000	0.62432	0.591000	0.81541	CGC		0.672	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		T	75513386	C	T	75513386	3	4	19	1	0	0	0	0	1	0	0	0	3408	768	27	1	850	1	CHST6	16	75513386	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	17718605	75513386	14841367	44	1253											
ADAMTS18	170692	broad.mit.edu	37	chr16	77355016	77355016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtacaggcctttataaaaCttgcaagttgaattatcacc	14	12	7	8	0	1	1	1	1	0	0	1	1	1	1	2	2	3	3	2	2	7	7			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:77355016C>G	ENST00000282849.5	-	15	2665	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	749	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTTATAAAACTTGCAAGTTG	0.383																																						uc002ffc.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2245-2247)aaG>aaC		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							123	122	123					16																	77355016		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77355016C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2247G>C	16.37:g.77355016C>G	ENSP00000282849:p.Lys749Asn					ADAMTS18_uc010chc.1_Missense_Mutation_p.K337N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K445N	p.K749N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			14	2666	-			749			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2247G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022211	0.54683	.	.	ENSG00000140873	ENST00000282849	T	0.68181	-0.31	5.49	4.54	0.55810	.	0.222054	0.45867	D	0.000328	T	0.67979	0.2951	M	0.73962	2.25	0.45852	D	0.998713	B;B	0.22800	0.014;0.075	B;B	0.28784	0.023;0.094	T	0.67554	-0.5641	10	0.52906	T	0.07	.	13.1984	0.59752	0.0:0.9238:0.0:0.0762	.	749;749	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	N	749	ENSP00000282849:K749N	ENSP00000282849:K749N	K	-	3	2	ADAMTS18	75912517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.194000	0.32174	1.331000	0.45412	0.650000	0.86243	AAG		0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			G	77355016	C	G	77355016	3	3	19	1	0	0	0	0	1	0	0	0	263	564	20	5	1454	5	ADAMTS18	16	77355016	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	1841630	77355016	12999737	45	1254											
KRT16	3868	broad.mit.edu	37	chr17	39767345	39767345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaaccaggtctcagcGtctctgcggtttttctctgc	5	13	10	13	2	4	0	2	0	3	0	7	1	4	1	1	3	4	1	1	3	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr17:39767345G>A	ENST00000301653.4	-	4	973	c.909C>T	c.(907-909)gaC>gaT	p.D303D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	303	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTCTCAGCGTCTCTGCGGT	0.607																																						uc002hxg.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(907-909)gaC>gaT		Homo sapiens keratin 16 (KRT16), mRNA.							156	143	147					17																	39767345		2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767345G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.909C>T	17.37:g.39767345G>A						JUP_uc010wfs.2_Intron	p.D303D	NM_005557	NP_005548	P08779	K1C16_HUMAN			3	1048	-		Breast(137;0.000307)	303			Coil 2.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.909C>T	CCDS11401.1																																																																																				0.607	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		A	39767345	G	A	39767345	2	1	19	1	0	0	0	0	0	0	0	1	8453	1136	40	1		1	KRT16	17	39767345	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		39767345	41427865	46	1255											
CILP2	148113	broad.mit.edu	37	chr19	19656153	19656153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctggtggcccaacccGcaggagttccgggcctgctt	4	8	14	15	2	0	0	0	0	0	0	1	1	1	1	5	5	2	3	5	5	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:19656153G>A	ENST00000291495.5	+	8	2884	c.2799G>A	c.(2797-2799)ccG>ccA	p.P933P	CILP2_ENST00000586018.1_Silent_p.P939P	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	933						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCAACCCGCAGGAGTTCC	0.662																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2815-2817)ccG>ccA		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							27	21	23					19																	19656153		2202	4300	6502	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656153G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2799G>A	19.37:g.19656153G>A						CILP2_uc002nmv.4_Silent_p.P933P	p.P939P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2902	+			933					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2817G>A	CCDS12405.1																																																																																				0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19656153	G	A	19656153	2	1	19	1	0	0	0	0	0	0	0	1	3430	1074	38	1		1	CILP2	19	19656153	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		19656153	39472830	47	1256											
LMTK3	114783	broad.mit.edu	37	chr19	49013377	49013377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggaggaggtctcctcCgcagggggagtgtactcccc	6	8	16	11	1	1	1	0	1	1	0	4	4	3	4	4	5	1	2	4	5	1	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:49013377C>T	ENST00000600059.1	-	3	491	c.264G>A	c.(262-264)gcG>gcA	p.A88A	LMTK3_ENST00000270238.3_Silent_p.A117A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	88					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622																																						uc002pjk.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(349-351)gcG>gcA		Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.							37	42	40					19																	49013377		2026	4178	6204	SO:0001819	synonymous_variant	114783							g.chr19:49013377C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.264G>A	19.37:g.49013377C>T							p.A117A	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	3	351	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.351G>A																																																																																					0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		T	49013377	C	T	49013377	2	4	19	1	0	0	0	0	0	0	0	1	8860	639	23	2		2	LMTK3	19	49013377	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	29357224	49013377	10115606	48	1257											
ZNF71	58491	broad.mit.edu	37	chr19	57133286	57133286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagcgcacgcacacgggcGagaagccgtatgtgtgcgac	10	4	14	13	6	0	1	0	0	0	1	0	3	0	1	2	1	3	3	2	1	2	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:57133286G>A	ENST00000328070.6	+	3	865	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCGTA	0.657																																						uc002qnm.4																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(631-633)Gag>Aag		Homo sapiens zinc finger protein 71 (ZNF71), mRNA.							46	40	42					19																	57133286		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133286G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.631G>A	19.37:g.57133286G>A	ENSP00000328245:p.Glu211Lys					ZNF71_uc021vcg.1_Missense_Mutation_p.E211K	p.E211K	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	2	869	+			211					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.631G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174399	0.78452	.	.	ENSG00000197951	ENST00000328070	T	0.24350	1.86	3.47	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	L	0.31578	0.945	0.33052	D	0.532899	D	0.76494	0.999	P	0.56514	0.8	T	0.41945	-0.9480	9	0.72032	D	0.01	.	10.0035	0.41942	0.1067:0.0:0.8932:0.0	.	211	Q9NQZ8	ZNF71_HUMAN	K	211	ENSP00000328245:E211K	ENSP00000328245:E211K	E	+	1	0	ZNF71	61825098	1.000000	0.71417	0.978000	0.43139	0.605000	0.37080	4.153000	0.58118	1.777000	0.52277	0.561000	0.74099	GAG		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		A	57133286	G	A	57133286	3	1	19	1	0	0	0	0	1	0	0	0	18111	1059	37	2	633	2	ZNF71	19	57133286	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	8119909	57133286	1995697	49	1258											
PTPRT	11122	broad.mit.edu	37	chr20	41101086	41101086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacatactggtactgcaCggtgaggttgtagctatggc	10	10	13	8	1	0	1	0	1	0	0	0	2	0	1	0	4	5	5	0	4	5	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr20:41101086C>T	ENST00000373187.1	-	8	1269	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	PTPRT_ENST00000373198.4_Missense_Mutation_p.V424M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V424M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V424M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V424M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V424M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V424M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	424	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTACTGCACGGTGAGGTTG	0.607																																						uc002xkg.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1270-1272)Gtg>Atg		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							67	73	71					20																	41101086		2129	4243	6372	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101086C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1270G>A	20.37:g.41101086C>T	ENSP00000362283:p.Val424Met					PTPRT_uc010ggj.3_Missense_Mutation_p.V424M	p.V424M	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1454	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	424			Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1270G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374639	0.61735	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.131761	0.50627	D	0.000115	T	0.57770	0.2076	L	0.46157	1.445	0.53005	D	0.999969	D;D	0.63880	0.993;0.988	P;B	0.52646	0.705;0.414	T	0.61917	-0.6964	10	0.87932	D	0	.	14.5221	0.67856	0.0:0.8535:0.1465:0.0	.	424;424	O14522-1;O14522	.;PTPRT_HUMAN	M	424	ENSP00000362286:V424M;ENSP00000362283:V424M;ENSP00000362289:V424M;ENSP00000348408:V424M;ENSP00000362294:V424M;ENSP00000362280:V424M;ENSP00000362297:V424M	ENSP00000348408:V424M	V	-	1	0	PTPRT	40534500	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.743000	0.62110	2.484000	0.83849	0.462000	0.41574	GTG		0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	41101086	C	T	41101086	3	4	19	1	0	0	0	0	1	0	0	0	12812	536	19	1	3212	1	PTPRT	20	41101086	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		41101086	21924434	50	1259											
ADM2	79924	broad.mit.edu	37	chr22	50921222	50921222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgagtgggctgtgtgctgGgcacctgccaggtgcagaat	6	9	17	9	1	0	1	0	0	0	1	0	2	0	1	2	3	4	4	2	3	1	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr22:50921222G>A	ENST00000395738.2	+	2	629	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	ADM2_ENST00000362068.2_Nonsense_Mutation_p.W29*|ADM2_ENST00000395737.1_Missense_Mutation_p.G113S	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	113					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGCTGGGCACCTGCCA	0.701																																						uc003blj.3																			0				breast(1)|kidney(1)	2						c.(337-339)Ggc>Agc		Homo sapiens adrenomedullin 2 (ADM2), transcript variant 1, mRNA.							8	10	10					22																	50921222		2073	4119	6192	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921222G>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"Endogenous ligands"	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.337G>A	22.37:g.50921222G>A	ENSP00000379087:p.Gly113Ser					ADM2_uc011ary.2_Missense_Mutation_p.G113S	p.G113S	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	629	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	113					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.337G>A	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.987175|6.987175	0.97983|0.97983	.|.	.|.	ENSG00000128165|ENSG00000128165	ENST00000395738;ENST00000395737|ENST00000362068	T;T|.	0.25579|.	1.79;1.79|.	4.62|4.62	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|.	0.55909|.	0.1950|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.57548|.	0.823|.	T|.	0.52975|.	-0.8503|.	9|.	0.87932|0.02654	D|T	0|1	.|.	10.9013|10.9013	0.47054|0.47054	0.1135:0.0:0.8865:0.0|0.1135:0.0:0.8865:0.0	.|.	113|.	Q7Z4H4|.	ADM2_HUMAN|.	S|X	113|29	ENSP00000379087:G113S;ENSP00000379086:G113S|.	ENSP00000379086:G113S|ENSP00000354955:W29X	G|W	+|+	1|3	0|0	ADM2|ADM2	49268088|49268088	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.520000|0.520000	0.34377|0.34377	4.266000|4.266000	0.58871|0.58871	2.113000|2.113000	0.64589|0.64589	0.448000|0.448000	0.29417|0.29417	GGC|TGG		0.701	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		A	50921222	G	A	50921222	3	1	19	1	0	0	0	0	1	0	0	0	322	1232	43	3	343	3	ADM2	22	50921222	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		50921222	383344	51	1260											
BCOR	54880	broad.mit.edu	37	chrX	39932184	39932185	+	Frame_Shift_Ins	INS	-	-	CAGAC																															cttctcggagaaggtctacgINStagacaagcttgtcgctttt																										TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:39932184_39932185insCAGAC	ENST00000378444.4	-	4	2642_2643	c.2414_2415insGTCTG	c.(2413-2415)tacfs	p.Y805fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.Y805fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.Y805fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.Y805fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	805					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAAGGTCTACGTAGACAAGCTT	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2413-2415)tacfs		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932184_39932185insCAGAC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2414_2415insGTCTG	X.37:g.39932184_39932185insCAGAC	ENSP00000367705:p.Tyr805fs					BCOR_uc004dep.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004dem.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deq.4_Frame_Shift_Ins_p.Y805fs	p.Y805fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	2706_2707	-			805					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.2414_2415insGTCTG	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		CAGAC	39932185	-	CAGAC	39932184	7	5	19	1	0	1	1	0	0	0	0	0	1386	1140	40	0	2900	0	BCOR	23	39932184	Frame_Shift_Ins	INS	-	TCGA-06-0140-01A-01D-1490-08		39932184	115338376	52	1261											
AKAP4	8852	broad.mit.edu	37	chrX	49957245	49957245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttagccatgataaggcagaGcttcatcacagattctacta	13	11	7	10	0	3	3	2	1	1	2	3	3	3	3	1	1	3	2	1	1	4	6			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:49957245G>A	ENST00000376056.2	-	5	2242	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	AKAP4_ENST00000376064.3_Missense_Mutation_p.L698F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.L324F|AKAP4_ENST00000358526.2_Missense_Mutation_p.L707F					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATAAGGCAGAGCTTCATCACA	0.478																																						uc004dow.1																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2119-2121)Ctc>Ttc		Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.							109	88	95					X																	49957245		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957245G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2092C>T	X.37:g.49957245G>A	ENSP00000365224:p.Leu698Phe					AKAP4_uc004dou.1_Missense_Mutation_p.L698F|AKAP4_uc004dov.1_Missense_Mutation_p.L324F|AKAP4_uc010njp.1_Missense_Mutation_p.L529F	p.L707F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN			4	2243	-	Ovarian(276;0.236)		707						Missense_Mutation	SNP	ENST00000376056.2	37	c.2119C>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326745	0.41197	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	4.93	0.0577	0.14324	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.43260	D	0.000591	T	0.35740	0.0942	M	0.77103	2.36	0.27675	N	0.946643	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.14868	-1.0457	9	.	.	.	-7.2711	7.6327	0.28249	0.5083:0.0:0.4917:0.0	.	707;324	Q5JQC9;A6ND82	AKAP4_HUMAN;.	F	698;324;707;698	ENSP00000365224:L698F;ENSP00000365226:L324F;ENSP00000351327:L707F;ENSP00000365232:L698F	.	L	-	1	0	AKAP4	49843985	0.028000	0.19301	0.920000	0.36463	0.753000	0.42808	-0.027000	0.12371	-0.501000	0.06605	0.529000	0.55759	CTC		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		A	49957245	G	A	49957245	3	1	19	1	0	0	0	0	1	0	0	0	453	971	34	3	453	3	AKAP4	23	49957245	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	10025061	49957245	105313315	53	1262											
CATSPER4	378807	broad.mit.edu	37	chr1	26524882	26524882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgcatcacccaggacGgctgggtggacatctacagt	9	9	11	12	1	4	0	2	0	2	0	4	2	4	2	1	4	2	2	1	4	1	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr1:26524882G>A	ENST00000456354.2	+	6	851	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAGGACGGCTGGGTGGA	0.557																																						uc010oez.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(784-786)Ggc>Agc		Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.							123	119	120					1																	26524882		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524882G>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.784G>A	1.37:g.26524882G>A	ENSP00000390423:p.Gly262Ser					CATSPER4_uc010oey.1_Missense_Mutation_p.G84S|CATSPER4_uc009vsf.3_Non-coding_Transcript	p.G262S	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	5	784	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	262					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.784G>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021687	0.75275	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.99886	-7.52;-7.52	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.53938	D	0.000047	D	0.99775	0.9907	L	0.51422	1.61	0.44843	D	0.997855	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	-18.2662	13.1463	0.59463	0.0:0.0:1.0:0.0	.	262;246	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	S	262	ENSP00000341006:G262S;ENSP00000390423:G262S	ENSP00000341006:G262S	G	+	1	0	CATSPER4	26397469	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.626000	0.67777	2.231000	0.72958	0.467000	0.42956	GGC		0.557	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		A	26524882	G	A	26524882	3	1	20	1	0	0	0	0	1	0	0	0	2690	1116	39	2	806	2	CATSPER4	1	26524882	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		26524882	222725739	1	1263											
GFPT1	2673	broad.mit.edu	37	chr2	69583664	69583664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccgggaaaatgaacacttTtaaacacaagtgcaaaagca	18	6	8	9	1	0	1	0	1	0	0	0	2	0	2	1	1	4	2	1	1	8	2			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:69583664T>C	ENST00000357308.4	-	7	747	c.569A>G	c.(568-570)aAa>aGa	p.K190R	GFPT1_ENST00000361060.5_Missense_Mutation_p.K190R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	190	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATGAACACTTTTAAACACAAG	0.358																																						uc002sfi.2																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(568-570)aAa>aGa		Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.							131	132	132					2																	69583664		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69583664T>C		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.569A>G	2.37:g.69583664T>C	ENSP00000349860:p.Lys190Arg					GFPT1_uc002sfh.3_Missense_Mutation_p.K190R	p.K190R	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN			6	752	-			190			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.569A>G	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.853685	0.91355	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76316	-1.01;-1.01	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90440	0.4431	10	0.59425	D	0.04	-21.529	14.2874	0.66254	0.0:0.0:0.0:1.0	.	190	Q06210-2	.	R	190	ENSP00000349860:K190R;ENSP00000354347:K190R	ENSP00000349860:K190R	K	-	2	0	GFPT1	69437168	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.730000	0.84881	2.240000	0.73641	0.533000	0.62120	AAA		0.358	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	69583664	T	C	69583664	3	2	20	1	0	0	0	0	1	0	0	0	6345	1841	64	4	1528	4	GFPT1	2	69583664	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		69583664	173615709	2	1264											
SCRN3	79634	broad.mit.edu	37	chr2	175287615	175287615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaattatttctctaggaAatataacttttgaaacaatg	18	15	4	4	0	1	1	0	1	1	0	2	2	1	2	0	1	2	0	0	1	10	8			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:175287615A>G	ENST00000272732.6	+	6	839	c.757A>G	c.(757-759)Aat>Gat	p.N253D	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.N246D	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	253							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTCTCTAGGAAATATAACTTT	0.318																																						uc002uiq.3																			0		p.G252R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(757-759)Aat>Gat		Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.							47	47	47					2																	175287615		2203	4300	6503	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175287615A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.757A>G	2.37:g.175287615A>G	ENSP00000272732:p.Asn253Asp					SCRN3_uc010zen.2_Missense_Mutation_p.N246D|SCRN3_uc010zeo.2_Missense_Mutation_p.N51D|SCRN3_uc002uis.3_5'UTR	p.N253D	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		5	855	+			253					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.757A>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416751	0.25552	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08458	3.09;3.09	5.4	4.26	0.50523	.	0.369457	0.32802	N	0.005628	T	0.05914	0.0154	L	0.45051	1.395	0.31106	N	0.710514	B;B	0.33318	0.408;0.351	B;B	0.32090	0.14;0.089	T	0.10268	-1.0637	10	0.22109	T	0.4	-8.7377	1.9701	0.03404	0.5811:0.1455:0.1337:0.1397	.	246;253	B4DI11;Q0VDG4	.;SCRN3_HUMAN	D	246;253	ENSP00000387142:N246D;ENSP00000272732:N253D	ENSP00000272732:N253D	N	+	1	0	SCRN3	174995861	0.997000	0.39634	1.000000	0.80357	0.676000	0.39594	2.108000	0.41854	2.052000	0.61016	0.459000	0.35465	AAT		0.318	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		G	175287615	A	G	175287615	3	3	20	1	0	0	0	0	1	0	0	0	13940	14	1	4	775	4	SCRN3	2	175287615	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	105703951	175287615	67911758	3	1265											
QRICH1	54870	broad.mit.edu	37	chr3	49094721	49094721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtccaggtttctcctgtAgggctagtaatggtcccagt	7	13	12	9	0	1	0	0	0	1	0	4	0	3	0	3	4	0	4	3	4	3	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr3:49094721A>G	ENST00000395443.2	-	3	1384	c.912T>C	c.(910-912)ccT>ccC	p.P304P	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Silent_p.P304P|QRICH1_ENST00000424300.1_Silent_p.P304P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	304	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTCTCCTGTAGGGCTAGTAA	0.557																																						uc010hkq.3																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(910-912)ccT>ccC		Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.							65	57	60					3																	49094721		2203	4300	6503	SO:0001819	synonymous_variant	54870							g.chr3:49094721A>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.912T>C	3.37:g.49094721A>G						QRICH1_uc003cvu.3_Silent_p.P304P|QRICH1_uc003cvv.3_Silent_p.P304P|QRICH1_uc021wxr.1_Silent_p.P241P	p.P304P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1208	-			304			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.912T>C	CCDS2787.1																																																																																				0.557	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		G	49094721	A	G	49094721	2	3	20	1	0	0	0	0	0	0	0	1	12879	407	15	4		4	QRICH1	3	49094721	Silent	SNP	A	TCGA-06-0141-01A-01D-1490-08		49094721	148927709	4	1266											
N4BP2	55728	broad.mit.edu	37	chr4	40122570	40122570	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgggtagctccaatctaGgaagttctgaaatgctgctc	10	12	10	9	0	2	1	0	1	2	0	4	2	3	2	1	2	3	5	1	2	5	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:40122570G>T	ENST00000261435.6	+	9	3255	c.2839G>T	c.(2839-2841)Gga>Tga	p.G947*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	947					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCCAATCTAGGAAGTTCTGA	0.408																																						uc003guy.4																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2839-2841)Gga>Tga		Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.							73	70	71					4																	40122570		2203	4300	6503	SO:0001587	stop_gained	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122570G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2839G>T	4.37:g.40122570G>T	ENSP00000261435:p.Gly947*					N4BP2_uc010ifq.3_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.3_Nonsense_Mutation_p.G867*	p.G947*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			8	3177	+			947					A0AVR3|Q9NVK2|Q9P2D4	Nonsense_Mutation	SNP	ENST00000261435.6	37	c.2839G>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.715982|2.715982	0.48622|0.48622	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	.|.	.|.	.|.	5.62|5.62	3.91|3.91	0.45181|0.45181	.|.	1.236800|.	0.05187|.	N|.	0.502463|.	.|T	.|0.49490	.|0.1560	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57911	.|-0.7729	.|3	0.11794|.	T|.	0.64|.	-0.0891|-0.0891	7.7286|7.7286	0.28773|0.28773	0.1627:0.414:0.4233:0.0|0.1627:0.414:0.4233:0.0	.|.	.|.	.|.	.|.	X|M	947;867|593	.|.	ENSP00000261435:G947X|.	G|R	+|+	1|2	0|0	N4BP2|N4BP2	39798965|39798965	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.812000|0.812000	0.27211|0.27211	0.856000|0.856000	0.35383|0.35383	-0.136000|-0.136000	0.14681|0.14681	GGA|AGG		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		T	40122570	G	T	40122570	4	4	20	1	0	0	0	0	0	1	0	0	10110	1001	35	5	2865	5	N4BP2	4	40122570	Nonsense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		40122570	151031706	5	1267											
LRRC66	339977	broad.mit.edu	37	chr4	52883712	52883712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgctttttcttgatgcaTttgtcattattccagtaaaa	10	20	5	6	0	2	1	1	1	1	0	3	1	3	1	1	0	2	3	1	0	4	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:52883712T>C	ENST00000343457.3	-	1	74	c.68A>G	c.(67-69)aAt>aGt	p.N23S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	23						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATGCATTTGTCATTAT	0.299																																						uc003gzi.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(67-69)aAt>aGt		Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.							26	26	26					4																	52883712		1799	4066	5865	SO:0001583	missense	339977					integral to membrane		g.chr4:52883712T>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.68A>G	4.37:g.52883712T>C	ENSP00000341944:p.Asn23Ser						p.N23S	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			0	75	-			23						Missense_Mutation	SNP	ENST00000343457.3	37	c.68A>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	4.646	0.120021	0.08881	.	.	ENSG00000188993	ENST00000343457	T	0.28454	1.61	4.7	-3.12	0.05282	.	0.936752	0.08894	N	0.878293	T	0.15696	0.0378	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.33214	-0.9877	10	0.17832	T	0.49	-5.2323	0.9871	0.01448	0.147:0.1797:0.3025:0.3708	.	23	Q68CR7	LRC66_HUMAN	S	23	ENSP00000341944:N23S	ENSP00000341944:N23S	N	-	2	0	LRRC66	52578469	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.076000	0.11412	-0.274000	0.09232	0.455000	0.32223	AAT		0.299	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		C	52883712	T	C	52883712	3	2	20	1	0	0	0	0	1	0	0	0	9018	1493	52	4	2590	4	LRRC66	4	52883712	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	12761142	52883712	138270564	6	1268											
ENOPH1	58478	broad.mit.edu	37	chr4	83372300	83372300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccgtggtagataatgtGtgctggcagatgtccctgga	8	10	15	8	1	0	2	0	0	0	2	1	3	1	3	2	4	1	3	2	4	2	2	rs143039236	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:83372300G>A	ENST00000273920.3	+	3	559	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ENOPH1_ENST00000509635.1_Silent_p.V9V	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TAGATAATGTGTGCTGGCAGA	0.562													G|||	2	0.000399361	0	0	5008	,	,		17376	0.002		0	False		,,,				2504	0					uc003hmv.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(289-291)gtG>gtA		Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.							108	98	101					4																	83372300		2203	4300	6503	SO:0001819	synonymous_variant	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83372300G>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"Enolase-phosphatase E1", "acireductone synthase"					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.291G>A	4.37:g.83372300G>A						ENOPH1_uc003hmx.3_Intron	p.V97V	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			2	548	+			97						Silent	SNP	ENST00000273920.3	37	c.291G>A	CCDS3594.1																																																																																				0.562	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		A	83372300	G	A	83372300	2	1	20	1	0	0	0	0	0	0	0	1	5124	1364	48	3		3	ENOPH1	4	83372300	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	30488588	83372300	107781976	7	1269											
ABCG2	9429	broad.mit.edu	37	chr4	89053011	89053011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgcggtgctccatttaTcagaacatctccagataatc	11	11	8	11	2	2	2	1	0	1	2	6	2	3	2	2	2	2	1	2	2	3	3	rs199578838		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:89053011T>C	ENST00000237612.3	-	4	867	c.322A>G	c.(322-324)Ata>Gta	p.I108V	ABCG2_ENST00000515655.1_Missense_Mutation_p.I108V	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	108	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTCCATTTATCAGAACATCT	0.378																																						uc003hrg.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(322-324)Ata>Gta		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98	91	93					4																	89053011		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89053011T>C	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.322A>G	4.37:g.89053011T>C	ENSP00000237612:p.Ile108Val					ABCG2_uc003hrh.3_Missense_Mutation_p.I108V|ABCG2_uc003hrf.3_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	p.I108V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	3	815	-		Hepatocellular(203;0.114)	108			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.322A>G	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	0.961	-0.703156	0.03255	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;D;D	0.94046	-3.34;-3.34;-2.85;-2.85	5.42	3.01	0.34805	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.174167	0.64402	D	0.000020	D	0.82384	0.5025	N	0.04768	-0.165	0.37692	D	0.923889	B;B	0.27316	0.099;0.175	B;B	0.30495	0.108;0.116	T	0.75608	-0.3259	10	0.18710	T	0.47	-18.896	7.5687	0.27894	0.0:0.1713:0.0:0.8287	.	108;108	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	V	108;108;146;126	ENSP00000426917:I108V;ENSP00000237612:I108V;ENSP00000426916:I146V;ENSP00000426934:I126V	ENSP00000237612:I108V	I	-	1	0	ABCG2	89272035	0.983000	0.35010	1.000000	0.80357	0.622000	0.37654	1.320000	0.33666	0.997000	0.38969	0.533000	0.62120	ATA		0.378	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		C	89053011	T	C	89053011	3	2	20	1	0	0	0	0	1	0	0	0	69	1435	50	4	1697	4	ABCG2	4	89053011	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	5680711	89053011	102101265	8	1270											
PCDHA13	56136	broad.mit.edu	37	chr5	140263677	140263677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaatgcgtggctttcGtatgaattgcagctggcggc	7	11	14	9	3	0	1	0	1	0	0	1	1	0	1	0	4	4	5	0	4	4	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140263677G>A	ENST00000289272.2	+	1	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S608S|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1822-1824)tcG>tcA		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							68	72	71					5																	140263677		2202	4298	6500	SO:0001819	synonymous_variant	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263677G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1824G>A	5.37:g.140263677G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S608S|PCDHAC2_uc003lid.3_Silent_p.S608S	p.S608S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1824	+			621			Cadherin 6.		O75277	Silent	SNP	ENST00000289272.2	37	c.1824G>A	CCDS4240.1																																																																																				0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		A	140263677	G	A	140263677	2	1	20	1	0	0	0	0	0	0	0	1	11523	1132	40	1		1	PCDHA13	5	140263677	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08		140263677	40651583	9	1271											
PCDHB14	56122	broad.mit.edu	37	chr5	140604583	140604583	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacctgcccctcgcctcCttggtctccatcaacgcgga	5	8	9	19	4	2	0	1	0	1	0	5	1	3	1	6	3	2	1	6	3	1	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140604583C>A	ENST00000239449.4	+	1	1506	c.1506C>A	c.(1504-1506)tcC>tcA	p.S502S	PCDHB14_ENST00000515856.2_Silent_p.S349S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCTTGGTCTCCA	0.647																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1504-1506)tcC>tcA		Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.							100	106	104					5																	140604583		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604583C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1506C>A	5.37:g.140604583C>A							p.S502S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1506	+			502			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1506C>A	CCDS4256.1																																																																																				0.647	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140604583	C	A	140604583	2	1	20	1	0	0	0	0	0	0	0	1	11539	668	24	5		5	PCDHB14	5	140604583	Silent	SNP	C	TCGA-06-0141-01A-01D-1490-08	340906	140604583	40310677	10	1272											
C2	717	broad.mit.edu	37	chr6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagaaagcctgggccGtaaaatccaaatccagcgct	12	8	8	13	2	1	1	0	0	1	1	4	1	3	1	5	1	2	2	5	1	4	2	rs201130773		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	243					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													G|||	1	0.000199681	0	0	5008	,	,		19168	0		0.001	False		,,,				2504	0					uc003nyf.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(727-729)cGt>cAt		Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.							108	113	112					6																	31901955		2203	4300	6503	SO:0001583	missense	717				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901955G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.728G>A	6.37:g.31901955G>A	ENSP00000299367:p.Arg243His					CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R243H|CFB_uc010jtk.3_Missense_Mutation_p.R111H|CFB_uc011doq.2_Missense_Mutation_p.R214H|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	p.R243H	NM_000063	NP_000054	P00751	CFAB_HUMAN			5	992	+			259					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.728G>A	CCDS4728.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.47	2.543921	0.45280	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.38897	N	0.001530	D	0.86510	0.5950	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.97	D	0.87766	0.2602	9	0.87932	D	0	-14.0377	15.1563	0.72746	0.0:0.0:1.0:0.0	.	214;111;243;243	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	H	120;243;111;181;243;102	ENSP00000406121:R120H;ENSP00000299367:R243H;ENSP00000395683:R111H;ENSP00000391354:R181H;ENSP00000406190:R243H;ENSP00000419048:R102H	ENSP00000299367:R243H	R	+	2	0	C2	32009934	0.998000	0.40836	0.954000	0.39281	0.776000	0.43924	4.689000	0.61723	2.726000	0.93360	0.655000	0.94253	CGT		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			A	31901955	G	A	31901955	3	1	20	1	0	0	0	0	1	0	0	0	2074	1145	40	1	827	1	C2	6	31901955	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		31901955	139213112	11	1273											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	8e-04	0	5008	,	,		16715	0		0	False		,,,				2504	0					uc003twk.2																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1075-1077)aAt>aGt		Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_uc003twj.3_Missense_Mutation_p.N94S|POM121_uc010lam.1_Missense_Mutation_p.N94S	p.N359S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			3	1076	+		Lung NSC(55;0.163)	359			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1076A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			G	72398976	A	G	72398976	3	3	20	1	0	0	0	0	1	0	0	0	12239	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		72398976	86739687	12	1274											
ZFAT	57623	broad.mit.edu	37	chr8	135533235	135533235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagctgcaaacaggacacTtcaaaccacctgaaagcaca	18	4	6	13	0	1	1	1	1	0	0	1	2	1	2	2	1	5	3	2	1	4	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr8:135533235T>G	ENST00000377838.3	-	13	3299	c.3125A>C	c.(3124-3126)aAg>aCg	p.K1042T	ZFAT_ENST00000520356.1_Missense_Mutation_p.K1030T|ZFAT_ENST00000523399.1_Missense_Mutation_p.K980T|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.K1030T|ZFAT_ENST00000520727.1_Missense_Mutation_p.K1030T|ZFAT_ENST00000520214.1_Missense_Mutation_p.K1030T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1042					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AACAGGACACTTCAAACCACC	0.408																																						uc003yup.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3124-3126)aAg>aCg		Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.							73	67	69					8																	135533235		1866	4104	5970	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533235T>G	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3125A>C	8.37:g.135533235T>G	ENSP00000367069:p.Lys1042Thr					ZFAT_uc011ljj.2_Missense_Mutation_p.K161T|ZFAT_uc003yun.3_Missense_Mutation_p.K1030T|ZFAT_uc003yuo.3_Missense_Mutation_p.K1030T|ZFAT_uc010meh.3_Missense_Mutation_p.K1030T|ZFAT_uc010mej.3_Missense_Mutation_p.K980T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.K1030T	p.K1042T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		12	3311	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1042					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3125A>C	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344802	0.82022	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	L	0.36672	1.1	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.82002	-0.0673	10	0.39692	T	0.17	-32.8975	14.5267	0.67894	0.0:0.0:0.0:1.0	.	161;980;1030;1042	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	T	1030;1030;1030;1042;1030;929;980	ENSP00000427879:K1030T;ENSP00000427831:K1030T;ENSP00000394501:K1030T;ENSP00000367069:K1042T;ENSP00000428483:K1030T;ENSP00000429091:K980T	ENSP00000326997:K929T	K	-	2	0	ZFAT	135602417	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.665000	0.74442	2.113000	0.64589	0.524000	0.50904	AAG		0.408	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135533235	T	G	135533235	3	3	20	1	0	0	0	0	1	0	0	0	17629	1609	56	5	622	5	ZFAT	8	135533235	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		135533235	10830787	13	1275											
IARS	3376	broad.mit.edu	37	chr9	95004467	95004467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgaataaggactttatccGatggagaaactggatatggt	13	12	11	5	1	0	2	0	1	0	1	1	6	1	4	1	4	1	0	1	4	5	5	rs200476416		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:95004467G>C	ENST00000375643.3	-	29	3412	c.3146C>G	c.(3145-3147)tCg>tGg	p.S1049W	IARS_ENST00000443024.2_Missense_Mutation_p.S1049W|IARS_ENST00000375627.1_Missense_Mutation_p.S102W|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.S939W|IARS_ENST00000375629.3_Missense_Mutation_p.S102W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1049					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACTTTATCCGATGGAGAAAC	0.388																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3145-3147)tCg>tGg		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						151	149	150					9																	95004467		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95004467G>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3146C>G	9.37:g.95004467G>C	ENSP00000364794:p.Ser1049Trp					IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	p.S1049W	NM_013417	NP_038203	P41252	SYIC_HUMAN			28	3403	-			1049					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.3146C>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463287	0.26248	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627	T;T;T	0.44083	0.93;0.93;0.93	6.05	5.16	0.70880	.	0.611731	0.17250	N	0.181200	T	0.64560	0.2609	M	0.78801	2.425	0.26375	N	0.976833	D;B;P	0.71674	0.998;0.001;0.9	D;B;P	0.65010	0.931;0.009;0.473	T	0.61633	-0.7023	10	0.87932	D	0	-2.5514	14.9844	0.71336	0.0686:0.0:0.9314:0.0	.	559;1049;894	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	W	1049;102;1049;939;1049;102	ENSP00000364794:S1049W;ENSP00000406448:S1049W;ENSP00000415020:S939W	ENSP00000364778:S102W	S	-	2	0	IARS	94044288	0.985000	0.35326	0.296000	0.24974	0.035000	0.12851	3.213000	0.51153	1.571000	0.49722	-0.142000	0.14014	TCG		0.388	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		C	95004467	G	C	95004467	3	2	20	1	0	0	0	0	1	0	0	0	7473	1059	37	5	666	5	IARS	9	95004467	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		95004467	46208964	14	1276											
RSU1	6251	broad.mit.edu	37	chr10	16794981	16794981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatcgttgtcacttagaTagagtgcacgcagggtggct	11	10	12	8	2	1	2	1	0	0	2	2	2	1	2	0	2	1	4	0	2	4	3	rs149666298	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:16794981T>C	ENST00000377921.3	-	5	720	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	RSU1_ENST00000602389.1_Missense_Mutation_p.Y87C|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.Y140C			Q15404	RSU1_HUMAN	Ras suppressor protein 1	140					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTCACTTAGATAGAGTGCACG	0.398																																						uc001iok.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(418-420)tAt>tGt		Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.		T	CYS/TYR,CYS/TYR	2,4404	4.2+/-10.8	0,2,2201	38	38	38		419,260	5.2	1	10	dbSNP_134	38	7,8593	5.7+/-21.5	0,7,4293	no	missense,missense	RSU1	NM_012425.3,NM_152724.2	194,194	0,9,6494	CC,CT,TT		0.0814,0.0454,0.0692	probably-damaging,probably-damaging	140/278,87/225	16794981	9,12997	2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16794981T>C	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.419A>G	10.37:g.16794981T>C	ENSP00000367154:p.Tyr140Cys					RSU1_uc001iol.3_Missense_Mutation_p.Y140C|RSU1_uc001iom.3_Missense_Mutation_p.Y87C|RSU1_uc001ion.3_Missense_Mutation_p.Y140C	p.Y140C	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	4	721	-			140					A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.419A>G	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399529	0.62177	4.54E-4	8.14E-4	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.53640	0.61;0.61	5.17	5.17	0.71159	.	0.059327	0.64402	D	0.000001	T	0.63546	0.2520	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.823;0.997	T	0.62586	-0.6823	10	0.39692	T	0.17	-4.4522	15.095	0.72226	0.0:0.0:0.0:1.0	.	140;140	B0YJ73;Q15404	.;RSU1_HUMAN	C	140;140;87	ENSP00000339521:Y140C;ENSP00000367154:Y140C	ENSP00000339521:Y140C	Y	-	2	0	RSU1	16834987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.919000	0.70005	1.971000	0.57363	0.524000	0.50904	TAT		0.398	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		C	16794981	T	C	16794981	3	2	20	1	0	0	0	0	1	0	0	0	13716	1406	49	4	430	4	RSU1	10	16794981	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		16794981	118739766	15	1277											
MAP3K8	1326	broad.mit.edu	37	chr10	30739369	30739369	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaccaatgagagaatttgaAattatttgggtgacaaagca	16	10	11	4	0	0	4	0	3	0	1	0	6	0	5	1	2	1	1	1	2	5	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:30739369A>G	ENST00000263056.1	+	5	1383	c.687A>G	c.(685-687)gaA>gaG	p.E229E	MAP3K8_ENST00000375321.1_Silent_p.E229E|MAP3K8_ENST00000542547.1_Silent_p.E229E	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAGAATTTGAAATTATTTGGG	0.418																																						uc001ivi.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(685-687)gaA>gaG		Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.							96	92	93					10																	30739369		2203	4300	6503	SO:0001819	synonymous_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739369A>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.687A>G	10.37:g.30739369A>G						MAP3K8_uc009xlf.2_Silent_p.E229E|MAP3K8_uc001ivj.2_Silent_p.E229E	p.E229E	NM_005204	NP_005195	P41279	M3K8_HUMAN			4	1299	+		Prostate(175;0.151)	229			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	c.687A>G	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239115	0.22711	.	.	ENSG00000107968	ENST00000430603	.	.	.	5.33	0.413	0.16401	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50890	-0.8774	4	.	.	.	.	9.5768	0.39463	0.641:0.0:0.359:0.0	.	.	.	.	R	150	.	.	K	+	2	0	MAP3K8	30779375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.811000	0.38942	0.101000	0.17610	0.528000	0.53228	AAA		0.418	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		G	30739369	A	G	30739369	2	3	20	1	0	0	0	0	0	0	0	1	9256	11	1	4		4	MAP3K8	10	30739369	Silent	SNP	A	TCGA-06-0141-01A-01D-1490-08	13944388	30739369	104795378	16	1278											
ZNF37A	7587	broad.mit.edu	37	chr10	38407378	38407378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaacatctaagaactcaCacaggtgagaaaccttatga	18	8	6	9	0	2	3	1	2	1	2	2	4	2	3	1	1	3	0	1	1	6	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:38407378C>A	ENST00000361085.5	+	7	1644	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	ZNF37A_ENST00000351773.3_Missense_Mutation_p.H433Q	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAAGAACTCACACAGGTGAGA	0.383																																						uc001izk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1297-1299)caC>caA		Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.							50	55	53					10																	38407378		2202	4300	6502	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407378C>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1299C>A	10.37:g.38407378C>A	ENSP00000354377:p.His433Gln					ZNF37A_uc001izl.3_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.3_Missense_Mutation_p.H433Q	p.H433Q	NM_001007094	NP_003412	P17032	ZN37A_HUMAN			7	2129	+			433					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1299C>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566030	0.45694	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.66995	-0.24;-0.24	2.34	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81437	0.4822	M	0.92833	3.35	0.28138	N	0.929906	D	0.71674	0.998	D	0.68765	0.96	T	0.73036	-0.4109	9	0.87932	D	0	.	7.7327	0.28796	0.0:0.4583:0.0:0.5417	.	433	P17032	ZN37A_HUMAN	Q	433	ENSP00000329141:H433Q;ENSP00000354377:H433Q	ENSP00000329141:H433Q	H	+	3	2	ZNF37A	38447384	0.760000	0.28428	0.933000	0.37362	0.889000	0.51656	-0.284000	0.08422	-0.544000	0.06232	0.591000	0.81541	CAC		0.383	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		A	38407378	C	A	38407378	3	1	20	1	0	0	0	0	1	0	0	0	17869	477	17	5	1313	5	ZNF37A	10	38407378	Missense_Mutation	SNP	C	TCGA-06-0141-01A-01D-1490-08	7668009	38407378	97127369	17	1279											
ANK3	288	broad.mit.edu	37	chr10	61831909	61831909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatttctgagagagagccGtttgttaacaatttgcgttc	10	16	9	6	2	1	2	0	1	1	2	2	4	1	2	1	0	3	3	1	0	3	6	rs370563122		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:61831909G>A	ENST00000280772.2	-	37	8921	c.8730C>T	c.(8728-8730)aaC>aaT	p.N2910N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2910					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGAGAGCCGTTTGTTAACA	0.378													G|||	0	0	0	0	5008	,	,		18768	0		0	False		,,,				2504	0					uc001jky.3																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8728-8730)aaC>aaT		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.		G	,,,	0,4406		0,0,2203	52	53	52		,,,8730	3.3	1	10		52	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,,,2910/4378	61831909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831909G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8730C>T	10.37:g.61831909G>A						ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.N2910N	NM_020987	NP_066267	Q12955	ANK3_HUMAN			36	9068	-			2910					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.8730C>T	CCDS7258.1																																																																																				0.378	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61831909	G	A	61831909	2	1	20	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61831909	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	23424531	61831909	73702838	18	1280											
OR4C15	81309	broad.mit.edu	37	chr11	55322828	55322828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaataaggaagtaaaacAggccatgaggagaatatgga	19	5	13	4	0	0	2	0	1	0	1	0	6	0	5	1	5	1	1	1	5	7	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:55322828A>T	ENST00000314644.2	+	1	1046	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAGTAAAACAGGCCATGAGG	0.328										HNSCC(20;0.049)																												uc010rig.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(1045-1047)cAg>cTg		Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.							78	77	77					11																	55322828		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322828A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1046A>T	11.37:g.55322828A>T	ENSP00000324958:p.Gln349Leu	HNSCC(20;0.049)					p.Q349L	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			0	1046	+			295					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1046A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	8.291	0.817724	0.16607	.	.	ENSG00000181939	ENST00000314644	T	0.38077	1.16	5.02	5.02	0.67125	.	.	.	.	.	T	0.26231	0.0640	N	0.25485	0.75	0.21445	N	0.999684	B	0.06786	0.001	B	0.04013	0.001	T	0.11665	-1.0578	9	0.72032	D	0.01	.	8.126	0.30999	0.8208:0.0:0.0:0.1792	.	295	Q8NGM1	OR4CF_HUMAN	L	349	ENSP00000324958:Q349L	ENSP00000324958:Q349L	Q	+	2	0	OR4C15	55079404	0.000000	0.05858	0.817000	0.32601	0.022000	0.10575	-0.796000	0.04575	2.107000	0.64212	0.317000	0.21355	CAG		0.328	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		T	55322828	A	T	55322828	3	4	20	1	0	0	0	0	1	0	0	0	11048	188	7	5	1048	5	OR4C15	11	55322828	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		55322828	79683688	19	1281											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71277242	71277242	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccagtgtaagatctgAggctctgaacccagaccttc	9	10	10	12	0	2	4	0	2	2	2	3	4	2	4	3	1	3	3	3	1	2	2			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:71277242A>G	ENST00000398531.1	+	1	634	c.609A>G	c.(607-609)tgA>tgG	p.*203W	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	0						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTAAGATCTGAGGCTCTGAAC	0.547																																						uc001oqt.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(607-609)tgA>tgG		Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.							91	93	92					11																	71277242		2200	4293	6493	SO:0001578	stop_lost	387273					keratin filament		g.chr11:71277242A>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.609A>G	11.37:g.71277242A>G	ENSP00000381542:p.*203Trpext*23						p.*203W	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			0	634	+			0					B9EHA4	Nonstop_Mutation	SNP	ENST00000398531.1	37	c.609A>G	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.637	-0.814841	0.02776	.	.	ENSG00000204572	ENST00000398531	.	.	.	1.69	0.535	0.17133	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2479	0.06803	0.7558:0.0:0.2442:0.0	.	.	.	.	W	203	.	.	X	+	3	0	KRTAP5-10	70954890	0.159000	0.22864	0.119000	0.21687	0.155000	0.21991	0.063000	0.14410	0.139000	0.18822	0.326000	0.21444	TGA		0.547	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			G	71277242	A	G	71277242	4	3	20	1	0	0	0	0	0	0	0	0	8559	317	11	4	611	4	KRTAP5-10	11	71277242	Nonstop_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	15954414	71277242	63729274	20	1282											
BIRC2	329	broad.mit.edu	37	chr11	102220791	102220791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaggagtcttgctcGtgctggtttttattatactg	8	16	10	7	1	2	1	1	0	1	1	3	2	2	2	0	2	3	3	0	2	4	6			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:102220791G>T	ENST00000227758.2	+	2	1605	c.206G>T	c.(205-207)cGt>cTt	p.R69L	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.R48L|BIRC2_ENST00000530675.1_Missense_Mutation_p.R20L	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	69					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGTCTTGCTCGTGCTGGTTTT	0.423																																						uc001pgy.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(205-207)cGt>cTt		Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.							109	107	107					11																	102220791		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102220791G>T	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.206G>T	11.37:g.102220791G>T	ENSP00000227758:p.Arg69Leu					BIRC2_uc010ruq.2_Missense_Mutation_p.R20L|BIRC2_uc010rur.2_Missense_Mutation_p.R69L	p.R69L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	1	1605	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	69					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.206G>T	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073877	0.76415	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.65	5.65	0.86999	Baculoviral inhibition of apoptosis protein repeat (5);	0.137530	0.64402	D	0.000004	T	0.17408	0.0418	M	0.64997	1.995	0.40657	D	0.982098	D	0.76494	0.999	D	0.77557	0.99	T	0.00013	-1.2421	10	0.72032	D	0.01	-2.0659	11.812	0.52188	0.0793:0.0:0.9207:0.0	.	69	Q13490	BIRC2_HUMAN	L	20;69;69;48;48	ENSP00000431723:R20L;ENSP00000227758:R69L;ENSP00000434979:R48L;ENSP00000434708:R48L	ENSP00000227758:R69L	R	+	2	0	BIRC2	101726001	0.120000	0.22244	0.998000	0.56505	0.997000	0.91878	1.976000	0.40579	2.941000	0.99782	0.655000	0.94253	CGT		0.423	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		T	102220791	G	T	102220791	3	4	20	1	0	0	0	0	1	0	0	0	1435	1145	40	5	208	5	BIRC2	11	102220791	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08	30943549	102220791	32785725	21	1283											
KLRC3	3823	broad.mit.edu	37	chr12	10573038	10573038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttaattctacttggaataTttcctgttcggttcctgaaa	9	18	7	7	1	1	1	0	1	1	0	4	2	3	2	2	2	1	3	2	2	5	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10573038T>C	ENST00000396439.2	-	1	156	c.112A>G	c.(112-114)Ata>Gta	p.I38V	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.I38V|KLRC3_ENST00000381904.2_Missense_Mutation_p.I38V	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	38					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTTGGAATATTTCCTGTTCG	0.378																																						uc001qyi.1																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(112-114)Ata>Gta		Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.							160	164	163					12																	10573038		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10573038T>C	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.112A>G	12.37:g.10573038T>C	ENSP00000379716:p.Ile38Val					KLRC2_uc001qyf.3_Missense_Mutation_p.I38V|KLRC2_uc021qvc.1_Missense_Mutation_p.I38V|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.I38V	p.I38V	NM_007333	NP_031359	P26717	NKG2C_HUMAN			0	157	-			38					Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.112A>G	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	t	10.98	1.504393	0.26949	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.05717	3.4;3.4;3.4	2.55	2.55	0.30701	.	0.108809	0.41500	D	0.000870	T	0.13114	0.0318	L	0.43646	1.37	0.09310	N	1	D;D	0.63880	0.993;0.983	D;D	0.74023	0.925;0.982	T	0.03773	-1.1005	10	0.37606	T	0.19	.	6.962	0.24603	0.0:0.0:0.0:1.0	.	38;38	Q07444-2;Q07444	.;NKG2E_HUMAN	V	38	ENSP00000379716:I38V;ENSP00000371329:I38V;ENSP00000371328:I38V	ENSP00000371328:I38V	I	-	1	0	KLRC3	10464305	0.003000	0.15002	0.014000	0.15608	0.006000	0.05464	1.218000	0.32467	1.419000	0.47118	0.477000	0.44152	ATA		0.378	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		C	10573038	T	C	10573038	3	2	20	1	0	0	0	0	1	0	0	0	8417	1493	52	4	734	4	KLRC3	12	10573038	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		10573038	123278857	22	1284											
KLRC2	3823	broad.mit.edu	37	chr12	10588474	10588474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaattctacttggaataTttcctgttcggttcctgaaa	10	18	6	7	1	1	1	0	1	1	0	4	2	3	2	2	2	1	2	2	2	5	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10588474T>C	ENST00000539033.1	-	1	126	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_ENST00000381902.2_Missense_Mutation_p.I38V|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.I38V																							ACTTGGAATATTTCCTGTTCG	0.383																																						uc001qyh.3																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(112-114)Ata>Gta		Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.							167	182	177					12																	10588474		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10588474T>C																												ENST00000539033.1:c.112A>G	12.37:g.10588474T>C	ENSP00000437563:p.Ile38Val					KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	p.I38V	NM_002261	NP_002252	P26717	NKG2C_HUMAN			0	119	-			38						Missense_Mutation	SNP	ENST00000539033.1	37	c.112A>G		.	.	.	.	.	.	.	.	.	.	T	10.90	1.480789	0.26598	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05717	3.4;3.4;3.4	2.57	1.42	0.22433	.	0.108809	0.41500	D	0.000870	T	0.12987	0.0315	L	0.46670	1.46	0.09310	N	1	D;D;D	0.71674	0.996;0.978;0.998	D;P;D	0.87578	0.995;0.881;0.998	T	0.03202	-1.1061	10	0.87932	D	0	.	3.6765	0.08294	0.0:0.1941:0.0:0.8059	.	24;38;38	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	V	38	ENSP00000437563:I38V;ENSP00000371327:I38V;ENSP00000371326:I38V	ENSP00000371326:I38V	I	-	1	0	KLRC2;RP11-277P12.6	10479741	0.000000	0.05858	0.008000	0.14137	0.091000	0.18340	-0.120000	0.10660	1.157000	0.42530	0.155000	0.16302	ATA		0.383	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			C	10588474	T	C	10588474	3	2	20	1	0	0	0	0	1	0	0	0	8416	1493	52	4	607	4	KLRC2	12	10588474	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	15436	10588474	123263421	23	1285											
TMCC3	57458	broad.mit.edu	37	chr12	94975965	94975965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggctccattctgctcgAtctctctgagctttcgatga	7	14	9	11	2	3	3	0	2	3	1	7	5	4	3	1	1	2	3	1	1	1	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:94975965A>G	ENST00000261226.4	-	2	559	c.428T>C	c.(427-429)aTc>aCc	p.I143T	TMCC3_ENST00000551457.1_Missense_Mutation_p.I112T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	143						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATTCTGCTCGATCTCTCTGAG	0.458																																						uc001tdj.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(427-429)aTc>aCc		Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.							93	91	92					12																	94975965		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975965A>G	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.428T>C	12.37:g.94975965A>G	ENSP00000261226:p.Ile143Thr					TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	p.I143T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			1	546	-			143					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.428T>C	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141780	0.57044	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.46063	0.88;0.88;0.88	5.74	5.74	0.90152	.	0.386898	0.33534	N	0.004804	T	0.42154	0.1190	N	0.25647	0.755	0.52099	D	0.999949	B	0.30114	0.269	B	0.41571	0.36	T	0.41124	-0.9526	10	0.56958	D	0.05	-14.4732	16.3305	0.83010	1.0:0.0:0.0:0.0	.	143	Q9ULS5	TMCC3_HUMAN	T	143;112;112	ENSP00000261226:I143T;ENSP00000449888:I112T;ENSP00000450078:I112T	ENSP00000261226:I143T	I	-	2	0	TMCC3	93500096	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.853000	0.69496	2.317000	0.78254	0.459000	0.35465	ATC		0.458	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		G	94975965	A	G	94975965	3	3	20	1	0	0	0	0	1	0	0	0	15991	333	12	4	1017	4	TMCC3	12	94975965	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	84387491	94975965	38875930	24	1286											
SACS	26278	broad.mit.edu	37	chr13	23928995	23928995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagcacagtttttgtgtAttctaaattttcatcaagtt	10	19	7	5	0	3	1	2	1	1	0	3	1	3	1	0	0	1	5	0	0	4	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr13:23928995A>G	ENST00000382292.3	-	7	2029	c.1756T>C	c.(1756-1758)Tac>Cac	p.Y586H	SACS_ENST00000382298.3_Missense_Mutation_p.Y586H|SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	586					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTTTGTGTATTCTAAATTT	0.468																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1756-1758)Tac>Cac		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							95	90	92					13																	23928995		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23928995A>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1756T>C	13.37:g.23928995A>G	ENSP00000371729:p.Tyr586His					SACS_uc001uoo.2_Missense_Mutation_p.Y439H|SACS_uc001uop.1_Missense_Mutation_p.Y373H|SACS_uc001uoq.1_Missense_Mutation_p.Y439H	p.Y586H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	7	2345	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	586					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1756T>C	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.773|4.773	0.143781|0.143781	0.09134|0.09134	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|T;T;T	.|0.16597	.|2.33;2.33;2.33	5.74|5.74	1.67|1.67	0.24075|0.24075	.|.	.|0.754999	.|0.13417	.|N	.|0.389451	T|T	0.11793|0.11793	0.0287|0.0287	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.12837	.|0.004;0.008;0.001	T|T	0.36383|0.36383	-0.9750|-0.9750	5|10	.|0.16420	.|T	.|0.52	.|.	4.5887|4.5887	0.12295|0.12295	0.6825:0.0:0.1796:0.1379|0.6825:0.0:0.1796:0.1379	.|.	.|485;373;586	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	T|H	485|586;586;210	.|ENSP00000371729:Y586H;ENSP00000371735:Y586H;ENSP00000390925:Y210H	.|ENSP00000371729:Y586H	I|Y	-|-	2|1	0|0	SACS|SACS	22826995|22826995	0.784000|0.784000	0.28713|0.28713	0.001000|0.001000	0.08648|0.08648	0.915000|0.915000	0.54546|0.54546	1.912000|1.912000	0.39946|0.39946	0.490000|0.490000	0.27771|0.27771	0.459000|0.459000	0.35465|0.35465	ATA|TAC		0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23928995	A	G	23928995	3	3	20	1	0	0	0	0	1	0	0	0	13804	449	16	4	11995	4	SACS	13	23928995	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		23928995	91240883	25	1287											
UBE3A	7337	broad.mit.edu	37	chr15	25616938	25616938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatttcatataccttcTcttctgttaagtaagtcaca	13	15	4	9	0	4	1	2	0	2	1	5	1	4	1	1	0	1	2	1	0	6	7			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr15:25616938T>C	ENST00000397954.2	-	4	391	c.392A>G	c.(391-393)gAg>gGg	p.E131G	UBE3A_ENST00000566215.1_Missense_Mutation_p.E108G|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.E108G|UBE3A_ENST00000232165.3_Missense_Mutation_p.E128G|UBE3A_ENST00000438097.1_Missense_Mutation_p.E108G			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	131					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATATACCTTCTCTTCTGTTAA	0.308																																						uc001zaq.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(391-393)gAg>gGg		Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.							33	35	34					15																	25616938		2200	4300	6500	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616938T>C	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.392A>G	15.37:g.25616938T>C	ENSP00000381045:p.Glu131Gly					SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.E108G|UBE3A_uc001zas.3_Missense_Mutation_p.E128G|UBE3A_uc001zat.3_Missense_Mutation_p.E108G	p.E131G	NM_000462	NP_570853	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1152	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	131					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.392A>G	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014805	0.35511	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.20738	2.05;2.05;2.08;2.08	5.84	5.84	0.93424	.	0.244896	0.47455	D	0.000223	T	0.15998	0.0385	N	0.24115	0.695	0.44702	D	0.997696	B;B	0.20887	0.007;0.049	B;B	0.16289	0.015;0.014	T	0.07158	-1.0787	10	0.23302	T	0.38	.	16.2233	0.82274	0.0:0.0:0.0:1.0	.	128;131	Q05086-3;Q05086	.;UBE3A_HUMAN	G	128;128;131;108;108	ENSP00000232165:E128G;ENSP00000381045:E131G;ENSP00000411258:E108G;ENSP00000401265:E108G	ENSP00000232165:E128G	E	-	2	0	UBE3A	23168031	1.000000	0.71417	0.929000	0.37066	0.995000	0.86356	6.291000	0.72719	2.243000	0.73865	0.482000	0.46254	GAG		0.308	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		C	25616938	T	C	25616938	3	2	20	1	0	0	0	0	1	0	0	0	16876	1551	54	4	2267	4	UBE3A	15	25616938	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		25616938	76914454	26	1288											
MIS12	79003	broad.mit.edu	37	chr17	5392643	5392643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggccaaactcaaacAgacgttgactttctttgatg	11	13	8	9	1	3	3	2	2	1	1	3	3	3	3	1	1	2	2	1	1	2	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:5392643A>G	ENST00000381165.3	+	3	1014	c.461A>G	c.(460-462)cAg>cGg	p.Q154R	DERL2_ENST00000571968.1_5'Flank|MIS12_ENST00000573759.1_Missense_Mutation_p.Q154R	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AAACTCAAACAGACGTTGACT	0.393																																						uc002gce.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(460-462)cAg>cGg		Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.							180	176	177					17																	5392643		2203	4300	6503	SO:0001583	missense	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392643A>G	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"MIS12, MIND kinetochore complex component, homolog (yeast)", "MIS12, MIND kinetochore complex component, homolog (S. pombe)"			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.461A>G	17.37:g.5392643A>G	ENSP00000370557:p.Gln154Arg					MIS12_uc002gcd.3_Missense_Mutation_p.Q154R|MIS12_uc021tom.1_Missense_Mutation_p.Q154R	p.Q154R	NM_024039	NP_076944	Q9H081	MIS12_HUMAN			2	1014	+			154						Missense_Mutation	SNP	ENST00000381165.3	37	c.461A>G	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	A	9.391	1.075483	0.20227	.	.	ENSG00000167842	ENST00000381165	T	0.42131	0.98	5.81	4.73	0.59995	.	0.433012	0.27039	N	0.021236	T	0.27731	0.0682	N	0.22421	0.69	0.21445	N	0.999686	B	0.02656	0.0	B	0.06405	0.002	T	0.15178	-1.0446	10	0.21014	T	0.42	-0.4481	11.1818	0.48633	0.9283:0.0:0.0717:0.0	.	154	Q9H081	MIS12_HUMAN	R	154	ENSP00000370557:Q154R	ENSP00000370557:Q154R	Q	+	2	0	MIS12	5333367	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.983000	0.56916	1.019000	0.39547	0.482000	0.46254	CAG		0.393	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		G	5392643	A	G	5392643	3	3	20	1	0	0	0	0	1	0	0	0	9594	188	7	4	463	4	MIS12	17	5392643	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		5392643	75802567	27	1289											
MYH2	4620	broad.mit.edu	37	chr17	10430104	10430104	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcatgcgccagggcGttcttggcctatggaggcag	6	8	17	10	2	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	1	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:10430104G>A	ENST00000245503.5	-	30	4383	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.N1333N|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1333					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498																																						uc010coi.3																			1	Substitution - coding silent(1)	p.N1333N(2)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3997-3999)aaC>aaT		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							80	78	79					17																	10430104		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430104G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3999C>T	17.37:g.10430104G>A						AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N1333N|MYH2_uc010coj.3_Intron	p.N1333N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			29	4127	-			1333					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3999C>T	CCDS11156.1																																																																																				0.498	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10430104	G	A	10430104	2	1	20	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10430104	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	5037461	10430104	70765106	28	1290											
MALT1	10892	broad.mit.edu	37	chr18	56378165	56378165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaggaagaacagatgAggcagtggagtgcactgaag	17	4	15	5	0	0	4	0	2	0	2	0	7	0	6	0	3	3	2	0	3	5	0			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr18:56378165A>G	ENST00000348428.3	+	7	1196	c.938A>G	c.(937-939)gAg>gGg	p.E313G	MALT1_ENST00000345724.3_Intron|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	313					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGAACAGATGAGGCAGTGGAG	0.388			T	BIRC3	MALT																																	uc002lhm.1				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(937-939)gAg>gGg		Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.							108	99	103					18																	56378165		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56378165A>G		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.938A>G	18.37:g.56378165A>G	ENSP00000319279:p.Glu313Gly					MALT1_uc002lhn.1_Intron	p.E313G	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			6	1196	+			313					Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.938A>G	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581581	0.28180	.	.	ENSG00000172175	ENST00000348428	T	0.12255	2.7	5.29	1.46	0.22682	.	0.521153	0.21311	N	0.076621	T	0.06188	0.0160	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	10	0.23891	T	0.37	.	1.0931	0.01667	0.5224:0.1575:0.1685:0.1515	.	313	Q9UDY8	MALT1_HUMAN	G	313	ENSP00000319279:E313G	ENSP00000319279:E313G	E	+	2	0	MALT1	54529145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.029000	0.30140	0.359000	0.24239	0.528000	0.53228	GAG		0.388	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			G	56378165	A	G	56378165	3	3	20	1	0	0	0	0	1	0	0	0	9202	304	11	4	964	4	MALT1	18	56378165	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		56378165	21699083	29	1291											
ZNF28	7576	broad.mit.edu	37	chr19	53303147	53303147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcctatgatggtataCgagggatgacatctgactga	13	10	12	6	1	1	5	0	5	1	0	1	7	1	6	1	2	2	1	1	2	4	3	rs146037495		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:53303147C>T	ENST00000457749.2	-	4	2070	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	ZNF28_ENST00000360272.4_Missense_Mutation_p.V598I|ZNF28_ENST00000438150.2_Missense_Mutation_p.V598I|ZNF28_ENST00000414252.2_Missense_Mutation_p.V598I	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGGTATACGAGGGATGAC	0.423																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1951-1953)Gta>Ata		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							199	189	192					19																	53303147		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303147C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1951G>A	19.37:g.53303147C>T	ENSP00000397693:p.Val651Ile					ZNF28_uc002qac.3_Missense_Mutation_p.V597I|ZNF28_uc010eqe.3_Missense_Mutation_p.V597I|ZNF28_uc021uza.1_Missense_Mutation_p.V598I	p.V651I	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	2108	-			651					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1951G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	7.235	0.600132	0.13939	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	N	0.05441	-0.05	0.09310	N	1	P	0.42620	0.785	B	0.37422	0.249	T	0.17349	-1.0372	9	0.15066	T	0.55	.	4.1854	0.10395	0.1542:0.4825:0.0:0.3633	.	651	P17035	ZNF28_HUMAN	I	598;651;598;598	ENSP00000412143:V598I;ENSP00000397693:V651I;ENSP00000353410:V598I;ENSP00000444965:V598I	ENSP00000353410:V598I	V	-	1	0	ZNF28	57994959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.063000	0.00302	-1.704000	0.01407	-0.708000	0.03648	GTA		0.423	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53303147	C	T	53303147	3	4	20	1	0	0	0	0	1	0	0	0	17810	536	19	1	209	1	ZNF28	19	53303147	Missense_Mutation	SNP	C	TCGA-06-0141-01A-01D-1490-08		53303147	5825836	30	1292											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298905	125298905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctgctggcgctggcGcggatccaggaaggagacgt	7	8	17	9	4	1	1	0	0	1	1	2	5	2	3	1	5	1	3	1	5	1	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chrX:125298905G>A	ENST00000360028.2	-	1	1029	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R335C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627																																						uc004euk.2																			2	Substitution - Missense(2)	p.R335C(3)|p.R335H(1)|p.P334P(1)	endometrium(2)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1003-1005)Cgc>Tgc		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							59	63	62					X																	125298905		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298905G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1003C>T	X.37:g.125298905G>A	ENSP00000353128:p.Arg335Cys						p.R335C	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	1176	-			335					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1003C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032144	0.54790	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.67865	-0.29;-0.29	4.05	2.14	0.27477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.33057	N	0.005338	T	0.80082	0.4558	M	0.82323	2.585	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	T	0.79458	-0.1795	10	0.66056	D	0.02	.	9.6185	0.39708	0.0:0.0:0.6157:0.3843	.	335	Q5VW00	DC122_HUMAN	C	335	ENSP00000441489:R335C;ENSP00000353128:R335C	ENSP00000353128:R335C	R	-	1	0	DCAF12L2	125126586	0.997000	0.39634	0.036000	0.18154	0.811000	0.45836	2.526000	0.45607	0.408000	0.25621	0.544000	0.68410	CGC		0.627	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125298905	G	A	125298905	3	1	20	1	0	0	0	0	1	0	0	0	4265	1087	38	1	392	1	DCAF12L2	23	125298905	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		125298905	29971655	31	1293											
EPHB2	2048	broad.mit.edu	37	chr1	23208926	23208926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgtcgtggtcccagccgGaccagcccaatggcgtgatc	6	7	12	16	3	0	1	0	1	0	0	3	2	1	2	5	3	2	0	5	3	1	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:23208926G>A	ENST00000400191.3	+	6	1396	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EPHB2_ENST00000374632.3_Missense_Mutation_p.D460N|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.D454N|EPHB2_ENST00000374630.3_Missense_Mutation_p.D460N|EPHB2_ENST00000544305.1_Missense_Mutation_p.D460N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTCCCAGCCGGACCAGCCCAA	0.607																																						uc009vqj.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1378-1380)Gac>Aac		Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.							150	136	141					1																	23208926		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23208926G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1378G>A	1.37:g.23208926G>A	ENSP00000383053:p.Asp460Asn					EPHB2_uc001bge.3_Missense_Mutation_p.D460N|EPHB2_uc001bgf.3_Missense_Mutation_p.D460N|EPHB2_uc010odu.2_Missense_Mutation_p.D460N	p.D460N	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	5	1523	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	460			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1378G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.301710	0.81136	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.1	4.1	0.47936	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.115194	0.56097	D	0.000022	T	0.61502	0.2352	M	0.72353	2.195	0.58432	D	0.999998	B;B;B;B	0.33777	0.001;0.425;0.293;0.114	B;B;B;B	0.44224	0.001;0.395;0.395;0.444	T	0.66412	-0.5930	10	0.52906	T	0.07	.	15.0407	0.71788	0.0:0.0:1.0:0.0	.	460;460;478;460	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	N	460;460;460;460;460;454	ENSP00000444174:D460N;ENSP00000363761:D460N;ENSP00000383053:D460N;ENSP00000363763:D460N;ENSP00000363758:D454N	ENSP00000363755:D460N	D	+	1	0	EPHB2	23081513	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	9.546000	0.98097	2.123000	0.65237	0.491000	0.48974	GAC		0.607	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23208926	G	A	23208926	3	1	21	1	0	0	0	0	1	0	0	0	5175	1174	41	3	1400	3	EPHB2	1	23208926	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		23208926	226041695	1	1294											
AMPD2	271	broad.mit.edu	37	chr1	110171969	110171969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatggttttgacagcgtGgatgatgagtccaagcctga	9	11	15	6	1	0	4	0	4	0	0	1	6	1	6	2	3	2	1	2	3	1	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:110171969G>A	ENST00000256578.3	+	14	2241	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPD2_ENST00000342115.4_Silent_p.V546V|AMPD2_ENST00000358729.4_Silent_p.V552V|AMPD2_ENST00000528667.1_Silent_p.V627V|AMPD2_ENST00000393688.3_Silent_p.V508V|AMPD2_ENST00000528454.1_Silent_p.V509V|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	627					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACAGCGTGGATGATGAGT	0.587																																						uc009wfh.1																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1879-1881)gtG>gtA		Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.							168	168	168					1																	110171969		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171969G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1881G>A	1.37:g.110171969G>A						AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.V546V|AMPD2_uc001dyc.1_Silent_p.V627V|AMPD2_uc010ovr.1_Silent_p.V552V|AMPD2_uc001dyd.1_Silent_p.V508V|AMPD2_uc001dye.1_5'UTR	p.V627V	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	14	2423	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	627					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.1881G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.242|8.242	0.807025|0.807025	0.16467|0.16467	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000476688	.|.	.|.	.|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	T|.	0.54095|.	0.1837|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53683|.	-0.8404|.	4|.	.|.	.|.	.|.	-32.4637|-32.4637	12.6774|12.6774	0.56901|0.56901	0.0:0.1665:0.8335:0.0|0.0:0.1665:0.8335:0.0	.|.	.|.	.|.	.|.	R|X	598|16	.|.	.|.	G|W	+|+	1|2	0|0	AMPD2|AMPD2	109973492|109973492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.294000|5.294000	0.65687|0.65687	2.347000|2.347000	0.79759|0.79759	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.587	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			A	110171969	G	A	110171969	2	1	21	1	0	0	0	0	0	0	0	1	586	1335	47	3		3	AMPD2	1	110171969	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	86963043	110171969	139078652	2	1295											
COPA	1314	broad.mit.edu	37	chr1	160268961	160268961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatcaatggtgagtacccgGggacgacactccctgtctag	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	2	4	1	1	2	4	3	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:160268961G>A	ENST00000241704.7	-	18	1990	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	COPA_ENST00000368069.3_Silent_p.P596P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	587					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGTACCCGGGGACGACACT	0.463																																						uc001fvv.4																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1786-1788)ccC>ccT		Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.							142	133	136					1																	160268961		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160268961G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1761C>T	1.37:g.160268961G>A						COPA_uc009wti.3_Silent_p.P587P	p.P596P	NM_001098398	NP_001091868	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	2182	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		587					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1788C>T	CCDS1202.1																																																																																				0.463	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		A	160268961	G	A	160268961	2	1	21	1	0	0	0	0	0	0	0	1	3727	1219	43	3		3	COPA	1	160268961	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	50096992	160268961	88981660	3	1296											
EPHX1	2052	broad.mit.edu	37	chr1	226027691	226027691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtattctacagcctgatgaGggagagcggctacatgcaca	11	8	13	9	1	1	3	0	2	1	1	1	4	1	3	1	3	5	3	1	3	3	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:226027691G>A	ENST00000366837.4	+	6	1080	c.884G>A	c.(883-885)aGg>aAg	p.R295K	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.R295K	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	295					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AGCCTGATGAGGGAGAGCGGC	0.607																																						uc001hpk.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(883-885)aGg>aAg		Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.							129	111	117					1																	226027691		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027691G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.884G>A	1.37:g.226027691G>A	ENSP00000355802:p.Arg295Lys					EPHX1_uc001hpl.3_Missense_Mutation_p.R295K	p.R295K	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			5	964	+	Breast(184;0.197)		295					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.884G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629627	0.28978	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.66638	-0.22;-0.22	5.57	4.66	0.58398	Alpha/beta hydrolase fold-1 (1);	0.307172	0.32244	N	0.006375	T	0.44540	0.1298	N	0.20357	0.565	0.24772	N	0.992865	B	0.14805	0.011	B	0.21360	0.034	T	0.09862	-1.0655	10	0.31617	T	0.26	-20.8483	2.4294	0.04468	0.1549:0.1689:0.5233:0.1529	.	295	P07099	HYEP_HUMAN	K	295	ENSP00000272167:R295K;ENSP00000355802:R295K	ENSP00000272167:R295K	R	+	2	0	EPHX1	224094314	0.842000	0.29525	0.966000	0.40874	0.912000	0.54170	1.277000	0.33167	2.630000	0.89119	0.591000	0.81541	AGG		0.607	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		A	226027691	G	A	226027691	3	1	21	1	0	0	0	0	1	0	0	0	5179	1000	35	3	902	3	EPHX1	1	226027691	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	65758730	226027691	23222930	4	1297											
BIRC6	57448	broad.mit.edu	37	chr2	32740406	32740406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttcttgtgaggagtctgGctagtttctgctttagccac	5	16	10	10	0	4	1	0	1	4	0	4	2	4	2	1	2	2	3	1	2	2	6	rs112352145		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:32740406G>A	ENST00000421745.2	+	55	11052	c.10918G>A	c.(10918-10920)Gct>Act	p.A3640T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3640					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A3612S(1)|p.A3640S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGGAGTCTGGCTAGTTTCTG	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			2	Substitution - Missense(2)	p.A3612S(1)|p.A3640S(1)	lung(2)	NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10918-10920)Gct>Act		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							82	77	79					2																	32740406		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740406G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10918G>A	2.37:g.32740406G>A	ENSP00000393596:p.Ala3640Thr						p.A3640T	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			54	11052	+	Acute lymphoblastic leukemia(172;0.155)		3640					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10918G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886234	0.33348	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.44	5.44	0.79542	.	0.185023	0.46145	D	0.000302	T	0.59851	0.2224	N	0.12746	0.255	0.47308	D	0.999389	B	0.10296	0.003	B	0.08055	0.003	T	0.53837	-0.8382	10	0.21540	T	0.41	.	19.2679	0.93997	0.0:0.0:1.0:0.0	.	3640	Q9NR09	BIRC6_HUMAN	T	3640	ENSP00000393596:A3640T	ENSP00000393596:A3640T	A	+	1	0	BIRC6	32593910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.736000	0.84948	2.563000	0.86464	0.585000	0.79938	GCT		0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32740406	G	A	32740406	3	1	21	1	0	0	0	0	1	0	0	0	1438	1203	42	3	11136	3	BIRC6	2	32740406	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		32740406	210458967	5	1298											
RGPD4	285190	broad.mit.edu	37	chr2	108476261	108476261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaacatggccttcaacCtgctctgcttgtacattggg	10	11	10	10	0	2	0	1	0	1	0	2	1	2	1	2	3	5	3	2	3	4	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:108476261C>T	ENST00000408999.3	+	12	1795	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P573L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	573					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGCCTTCAACCTGCTCTGCTT	0.328																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1717-1719)cCt>cTt		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							6	7	7					2																	108476261		650	1532	2182	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108476261C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1718C>T	2.37:g.108476261C>T	ENSP00000386810:p.Pro573Leu					RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	p.P573L	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			11	1800	+			573					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1718C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.35	1.612004	0.28712	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.56941	0.43;0.43	2.6	2.6	0.31112	.	.	.	.	.	T	0.66992	0.2846	M	0.67953	2.075	0.47621	D	0.99947	D	0.76494	0.999	D	0.80764	0.994	T	0.67699	-0.5603	9	0.45353	T	0.12	-18.8899	11.8656	0.52490	0.0:1.0:0.0:0.0	.	573	Q7Z3J3	RGPD4_HUMAN	L	573;573;331	ENSP00000347081:P573L;ENSP00000386810:P573L	ENSP00000347081:P573L	P	+	2	0	RGPD4	107842693	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	6.434000	0.73408	1.299000	0.44798	0.152000	0.16155	CCT		0.328	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		T	108476261	C	T	108476261	3	4	21	1	0	0	0	0	1	0	0	0	13288	681	24	3	1764	3	RGPD4	2	108476261	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	75735855	108476261	134723112	6	1299											
GCC2	9648	broad.mit.edu	37	chr2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaacagcaccagcgtaCgctaagtgcataccagcaga	13	5	11	12	3	0	1	0	0	0	1	0	2	0	2	2	1	8	5	2	1	4	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:109103046C>T	ENST00000309863.6	+	16	4586	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502																																						uc002tec.3																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3871-3873)aCg>aTg		Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.							103	95	98					2																	109103046		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103046C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3872C>T	2.37:g.109103046C>T	ENSP00000307939:p.Thr1291Met					GCC2_uc002ted.3_Missense_Mutation_p.T1190M	p.T1291M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			15	4026	+			1291					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3872C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231335	0.39399	.	.	ENSG00000135968	ENST00000309863	T	0.34275	1.37	5.6	3.75	0.43078	.	0.225320	0.45126	D	0.000381	T	0.36936	0.0985	M	0.67953	2.075	0.09310	N	1	D	0.56521	0.976	P	0.44477	0.451	T	0.35798	-0.9774	10	0.59425	D	0.04	.	8.4297	0.32750	0.0:0.7325:0.128:0.1394	.	1291	Q8IWJ2	GCC2_HUMAN	M	1291	ENSP00000307939:T1291M	ENSP00000307939:T1291M	T	+	2	0	GCC2	108469478	0.036000	0.19791	0.163000	0.22734	0.313000	0.28021	1.467000	0.35321	1.377000	0.46286	0.655000	0.94253	ACG		0.502	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		T	109103046	C	T	109103046	3	4	21	1	0	0	0	0	1	0	0	0	6286	536	19	1	3934	1	GCC2	2	109103046	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	626785	109103046	134096327	7	1300											
ITGA4	3676	broad.mit.edu	37	chr2	182386969	182386969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagtatgaagacattgatGttgaatgtgtccttgtttaa	11	15	12	3	0	0	4	0	3	0	1	1	5	1	5	1	1	0	3	1	1	4	6	rs201430122		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:182386969G>A	ENST00000397033.2	+	18	2404	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	658					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGACATTGATGTTGAATGTGT	0.333																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1972-1974)atG>atA		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)	G	ILE/MET	0,3714		0,0,1857	178	161	166		1974	5.7	1	2		166	1,8231		0,1,4115	no	missense	ITGA4	NM_000885.4	10	0,1,5972	AA,AG,GG		0.0121,0.0,0.0084	possibly-damaging	658/1033	182386969	1,11945	1857	4116	5973	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182386969G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1974G>A	2.37:g.182386969G>A	ENSP00000380227:p.Met658Ile					ITGA4_uc010frj.1_Missense_Mutation_p.M140I|ITGA4_uc002unv.3_5'UTR	p.M658I	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		17	2737	+			658					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1974G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813197	0.50527	0.0	1.21E-4	ENSG00000115232	ENST00000397033	T	0.44083	0.93	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.155818	0.64402	D	0.000002	T	0.51873	0.1700	L	0.59436	1.845	0.49582	D	0.999804	P;P	0.41498	0.752;0.752	P;P	0.47573	0.55;0.55	T	0.38023	-0.9680	10	0.30854	T	0.27	.	19.7656	0.96337	0.0:0.0:1.0:0.0	.	480;658	Q59H74;P13612	.;ITA4_HUMAN	I	658	ENSP00000380227:M658I	ENSP00000380227:M658I	M	+	3	0	ITGA4	182095214	1.000000	0.71417	0.988000	0.46212	0.723000	0.41478	3.435000	0.52849	2.669000	0.90835	0.585000	0.79938	ATG		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182386969	G	A	182386969	3	1	21	1	0	0	0	0	1	0	0	0	7878	1377	48	3	2044	3	ITGA4	2	182386969	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	73283923	182386969	60812404	8	1301											
VIL1	7429	broad.mit.edu	37	chr2	219301876	219301876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattgggaaacatgccaaCgaggaggagaagaaggccgc	14	4	16	7	2	0	2	0	0	0	2	0	7	0	5	2	5	3	0	2	5	4	1	rs372807005		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:219301876C>T	ENST00000248444.5	+	17	2089	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	VIL1_ENST00000392114.2_Silent_p.N356N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	667	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATGCCAACGAGGAGGAGA	0.572																																						uc002vib.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1999-2001)aaC>aaT		Homo sapiens villin 1 (VIL1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	114	113	113		2001	-9.7	0.2	2		113	0,8600		0,0,4300	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		667/828	219301876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301876C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2001C>T	2.37:g.219301876C>T						VIL1_uc010zke.2_Silent_p.N356N|VIL1_uc002via.3_Silent_p.N667N	p.N667N	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2023	+		Renal(207;0.0474)	667			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.2001C>T	CCDS2417.1																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		T	219301876	C	T	219301876	2	4	21	1	0	0	0	0	0	0	0	1	17161	535	19	1		1	VIL1	2	219301876	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08	36914907	219301876	23897497	9	1302											
PAX3	5077	broad.mit.edu	37	chr2	223084911	223084911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatggggttggagggccccGacggaggcacaaagctgtct	8	7	16	10	2	2	0	1	0	1	0	2	3	2	2	2	6	1	3	2	6	1	1	rs45607236		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:223084911G>A	ENST00000350526.4	-	7	1257	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	PAX3_ENST00000336840.6_Missense_Mutation_p.S374L|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.S374L|PAX3_ENST00000409551.3_Missense_Mutation_p.S373L|PAX3_ENST00000344493.4_Missense_Mutation_p.S374L|PAX3_ENST00000392070.2_Missense_Mutation_p.S374L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	374					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGGCCCCGACGGAGGCAC	0.552			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0		p.S374S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1120-1122)tCg>tTg		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							120	111	114					2																	223084911		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223084911G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1121C>T	2.37:g.223084911G>A	ENSP00000343052:p.Ser374Leu					PAX3_uc002vmt.2_Missense_Mutation_p.S374L|PAX3_uc002vmy.2_Missense_Mutation_p.S373L|PAX3_uc002vmv.2_Missense_Mutation_p.S374L|PAX3_uc002vmw.2_Missense_Mutation_p.S374L|PAX3_uc002vmx.2_Missense_Mutation_p.S374L	p.S374L	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1502	-		Renal(207;0.0183)	374					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1121C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053661	0.55218	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.68	5.68	0.88126	.	0.301662	0.37348	N	0.002131	T	0.74981	0.3788	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P	0.51791	0.948;0.676;0.802;0.936;0.625	B;B;B;B;B	0.43658	0.426;0.102;0.09;0.388;0.088	T	0.72975	-0.4128	10	0.26408	T	0.33	.	19.7917	0.96461	0.0:0.0:1.0:0.0	rs45607236	374;373;374;374;374	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	L	374;374;374;374;374;373;91;91	ENSP00000375921:S374L;ENSP00000342092:S374L;ENSP00000343052:S374L;ENSP00000375922:S374L;ENSP00000338767:S374L;ENSP00000386750:S373L	ENSP00000338767:S374L	S	-	2	0	PAX3	222793155	1.000000	0.71417	0.939000	0.37840	0.984000	0.73092	5.730000	0.68546	2.685000	0.91497	0.650000	0.86243	TCG		0.552	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			A	223084911	G	A	223084911	3	1	21	1	0	0	0	0	1	0	0	0	11480	1059	37	2	440	2	PAX3	2	223084911	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	3783035	223084911	20114462	10	1303											
C2orf57	165100	broad.mit.edu	37	chr2	232457869	232457869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatctggagacaaagaCaagagtgcagttgttccaga	15	8	10	8	0	2	4	1	0	1	4	3	5	3	4	1	1	2	3	1	1	3	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:232457869C>T	ENST00000313965.2	+	1	295	c.207C>T	c.(205-207)gaC>gaT	p.D69D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	69										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAGACAAAGACAAGAGTGCAG	0.532																																						uc002vrz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(205-207)gaC>gaT		Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.							121	126	124					2																	232457869		2203	4300	6503	SO:0001819	synonymous_variant	165100							g.chr2:232457869C>T	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.207C>T	2.37:g.232457869C>T							p.D69D	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	0	295	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	69					Q8N4F2	Silent	SNP	ENST00000313965.2	37	c.207C>T	CCDS2487.1																																																																																				0.532	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		T	232457869	C	T	232457869	2	4	21	1	0	0	0	0	0	0	0	1	2178	477	17	3		3	C2orf57	2	232457869	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08	9372958	232457869	10741504	11	1304											
CCR8	1237	broad.mit.edu	37	chr3	39374277	39374277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgatcaggatgggcacaaCgctgtgcctggcagtatggc	9	7	15	10	2	1	0	1	0	0	0	1	3	1	1	1	4	2	4	1	4	2	1	rs190329588	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:39374277C>T	ENST00000326306.4	+	2	593	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CCR8_ENST00000414803.1_Silent_p.N94N|CCR8_ENST00000545843.1_Missense_Mutation_p.T69M	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	152					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGGCACAACGCTGTGCCTG	0.502													C|||	3	0.000599042	0	0.0014	5008	,	,		22447	0.002		0	False		,,,				2504	0					uc010hhr.2																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(454-456)aCg>aTg		Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.							208	188	195					3																	39374277		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374277C>T	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.455C>T	3.37:g.39374277C>T	ENSP00000326432:p.Thr152Met					CCR8_uc003cjm.2_Missense_Mutation_p.T69M|CCR8_uc021wwe.1_Missense_Mutation_p.T152M	p.T152M	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	1	593	+			152					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.455C>T	CCDS2684.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	1.496	-0.553408	0.03996	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.72167	-0.63;-0.63	4.76	-0.622	0.11560	GPCR, rhodopsin-like superfamily (1);	0.674733	0.14575	N	0.311217	T	0.41465	0.1160	N	0.03071	-0.42	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.23419	0.029;0.046	T	0.29882	-0.9997	10	0.49607	T	0.09	.	5.8653	0.18771	0.0:0.3141:0.1463:0.5396	.	152;69	P51685;Q3KNR3	CCR8_HUMAN;.	M	152;69	ENSP00000326432:T152M;ENSP00000440474:T69M	ENSP00000326432:T152M	T	+	2	0	CCR8	39349281	0.000000	0.05858	0.121000	0.21740	0.035000	0.12851	0.196000	0.17176	-0.340000	0.08388	-0.794000	0.03295	ACG		0.502	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		T	39374277	C	T	39374277	3	4	21	1	0	0	0	0	1	0	0	0	2947	536	19	1	457	1	CCR8	3	39374277	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		39374277	158648153	12	1305											
CAMKV	79012	broad.mit.edu	37	chr3	49898275	49898275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatagaaaggtggatTgcctgaaagcctgcatgggg	10	9	13	9	0	1	2	1	1	0	1	2	3	2	3	3	4	3	1	3	4	3	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:49898275T>C	ENST00000477224.1	-	8	1127	c.649A>G	c.(649-651)Aat>Gat	p.N217D	CAMKV_ENST00000463537.1_Missense_Mutation_p.N217D|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_Missense_Mutation_p.N142D|CAMKV_ENST00000296471.7_Missense_Mutation_p.N189D|CAMKV_ENST00000488336.1_Missense_Mutation_p.N217D|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000466940.1_Missense_Mutation_p.N174D			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAAGGTGGATTGCCTGAAAGC	0.512																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(649-651)Aat>Gat		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							151	154	153					3																	49898275		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898275T>C	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.649A>G	3.37:g.49898275T>C	ENSP00000419195:p.Asn217Asp					CAMKV_uc011bcy.1_Missense_Mutation_p.N142D|CAMKV_uc003cxv.1_Missense_Mutation_p.N189D|CAMKV_uc003cxw.1_Missense_Mutation_p.N49D|CAMKV_uc003cxx.1_Missense_Mutation_p.N49D|CAMKV_uc003cxu.2_Missense_Mutation_p.N217D|CAMKV_uc011bcz.1_Missense_Mutation_p.N180D|CAMKV_uc011bda.1_Missense_Mutation_p.N174D|CAMKV_uc011bdb.1_Non-coding_Transcript	p.N217D	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	842	-			217			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.649A>G	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261485	0.59431	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000289	T	0.66147	0.2760	N	0.13043	0.29	0.58432	D	0.999998	D;P;D;D;D;D;D	0.89917	0.999;0.811;0.999;1.0;0.999;0.999;0.999	D;P;D;D;D;D;D	0.87578	0.995;0.703;0.989;0.998;0.996;0.997;0.989	T	0.72849	-0.4168	10	0.87932	D	0	.	15.6043	0.76649	0.0:0.0:0.0:1.0	.	174;180;217;142;189;217;217	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	D	189;217;217;217;142;174	ENSP00000296471:N189D;ENSP00000418809:N217D;ENSP00000417614:N217D;ENSP00000419195:N217D;ENSP00000420053:N142D;ENSP00000420724:N174D	ENSP00000296471:N189D	N	-	1	0	CAMKV	49873279	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.244000	0.72391	2.098000	0.63641	0.459000	0.35465	AAT		0.512	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		C	49898275	T	C	49898275	3	2	21	1	0	0	0	0	1	0	0	0	2608	1812	63	4	872	4	CAMKV	3	49898275	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08	10523998	49898275	148124155	13	1306											
NSUN3	63899	broad.mit.edu	37	chr3	93813043	93813043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtggctaaggcagacgttgGaatctttcatcccacagcct	9	10	11	11	1	2	1	1	0	1	1	3	2	3	2	2	4	1	3	2	4	2	3	rs554392054		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:93813043G>C	ENST00000314622.4	+	4	737	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	176							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GCAGACGTTGGAATCTTTCAT	0.368																																						uc003drl.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(526-528)Gaa>Caa		Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.							88	83	85					3																	93813043		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93813043G>C	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.526G>C	3.37:g.93813043G>C	ENSP00000318986:p.Glu176Gln						p.E176Q	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			3	642	+			176					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.526G>C	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036044	0.54896	.	.	ENSG00000178694	ENST00000314622	T	0.20332	2.08	5.98	5.98	0.97165	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.104314	0.64402	D	0.000004	T	0.35682	0.0940	N	0.21240	0.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03060	-1.1077	10	0.35671	T	0.21	-15.0252	20.4581	0.99154	0.0:0.0:1.0:0.0	.	176	Q9H649	NSUN3_HUMAN	Q	176	ENSP00000318986:E176Q	ENSP00000318986:E176Q	E	+	1	0	NSUN3	95295733	1.000000	0.71417	0.983000	0.44433	0.399000	0.30720	7.044000	0.76578	2.835000	0.97688	0.650000	0.86243	GAA		0.368	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		C	93813043	G	C	93813043	3	2	21	1	0	0	0	0	1	0	0	0	10679	1175	41	5	540	5	NSUN3	3	93813043	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	43914768	93813043	104209387	14	1307											
RBM47	54502	broad.mit.edu	37	chr4	40440502	40440502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcaggcggcccgggcGgatctcgtagttgttgagct	5	8	17	11	5	1	1	0	1	1	0	2	3	1	2	2	4	2	5	2	4	1	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:40440502G>A	ENST00000381793.2	-	3	805	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R137C|RBM47_ENST00000295971.7_Missense_Mutation_p.R137C|RBM47_ENST00000319592.4_Missense_Mutation_p.R137C|RBM47_ENST00000514014.1_Missense_Mutation_p.R99C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	137	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R137C(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622																																						uc003gvc.2																			3	Substitution - Missense(3)	p.R137C(4)|p.I136I(1)	skin(3)	breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(409-411)Cgc>Tgc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							47	41	43					4																	40440502		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440502G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.409C>T	4.37:g.40440502G>A	ENSP00000371212:p.Arg137Cys					RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1119	-			137			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.409C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784146	0.49997	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.35789	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;1.29	5.78	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.61917	-0.6964	10	0.72032	D	0.01	-18.5288	15.6477	0.77068	0.0:0.0:0.7744:0.2256	.	137;137	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	137;137;137;137;99;137;137;137;137	ENSP00000320108:R137C;ENSP00000371212:R137C;ENSP00000371214:R137C;ENSP00000295971:R137C;ENSP00000423243:R99C;ENSP00000422564:R137C;ENSP00000421589:R137C;ENSP00000423527:R137C;ENSP00000426542:R137C	ENSP00000295971:R137C	R	-	1	0	RBM47	40135259	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	5.504000	0.66968	2.740000	0.93945	0.313000	0.20887	CGC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		A	40440502	G	A	40440502	3	1	21	1	0	0	0	0	1	0	0	0	13141	1116	39	2	1388	2	RBM47	4	40440502	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		40440502	150713774	15	1308											
KDR	3791	broad.mit.edu	37	chr4	55955885	55955885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatttcccacagcaaaaCaccaaaagaccagacgtcac	19	5	4	13	1	1	2	1	0	0	2	2	2	2	2	3	0	2	1	3	0	6	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:55955885C>T	ENST00000263923.4	-	24	3572	c.3277G>A	c.(3277-3279)Gtt>Att	p.V1093I	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1093	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACAGCAAAACACCAAAAGAC	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3277-3279)Gtt>Att		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						142	153	150					4																	55955885		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955885C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3277G>A	4.37:g.55955885C>T	ENSP00000263923:p.Val1093Ile	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.V1093I	p.V1093I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		23	3579	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1093			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3277G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597909	0.46318	.	.	ENSG00000128052	ENST00000263923	D	0.90788	-2.73	5.81	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.196131	0.42821	D	0.000644	T	0.80215	0.4582	N	0.05414	-0.055	0.58432	D	0.999992	B	0.31241	0.315	B	0.28784	0.094	T	0.77935	-0.2401	10	0.23302	T	0.38	.	15.7746	0.78204	0.0:0.924:0.0:0.076	.	1093	P35968	VGFR2_HUMAN	I	1093	ENSP00000263923:V1093I	ENSP00000263923:V1093I	V	-	1	0	KDR	55650642	1.000000	0.71417	0.998000	0.56505	0.597000	0.36814	4.072000	0.57563	2.735000	0.93741	0.563000	0.77884	GTT		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55955885	C	T	55955885	3	4	21	1	0	0	0	0	1	0	0	0	8139	478	17	3	821	3	KDR	4	55955885	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	15515383	55955885	135198391	16	1309											
BMP2K	55589	broad.mit.edu	37	chr4	79772148	79772148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtcaggttgctatctGtgatggcaacttcaccatcc	9	12	10	10	0	3	2	2	2	1	1	4	3	4	2	2	2	2	3	2	2	2	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:79772148G>A	ENST00000335016.5	+	7	987	c.821G>A	c.(820-822)tGt>tAt	p.C274Y	BMP2K_ENST00000502871.1_Missense_Mutation_p.C274Y	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTTGCTATCTGTGATGGCAAC	0.363																																						uc003hlk.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(820-822)tGt>tAt		Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.							127	111	116					4																	79772148		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79772148G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.821G>A	4.37:g.79772148G>A	ENSP00000334836:p.Cys274Tyr					BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.C274Y	p.C274Y	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			6	987	+			274			Protein kinase.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.821G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982229	0.93044	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.19669	2.13;2.13	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	N	0.21545	0.675	0.80722	D	1	D;D	0.58970	0.984;0.966	D;P	0.63877	0.919;0.884	T	0.08785	-1.0705	10	0.66056	D	0.02	-12.5522	19.2209	0.93796	0.0:0.0:1.0:0.0	.	274;274	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	Y	274	ENSP00000421768:C274Y;ENSP00000334836:C274Y	ENSP00000264889:C274Y	C	+	2	0	BMP2K	79991172	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.712000	0.98738	2.625000	0.88918	0.650000	0.86243	TGT		0.363	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		A	79772148	G	A	79772148	3	1	21	1	0	0	0	0	1	0	0	0	1460	1377	48	3	847	3	BMP2K	4	79772148	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	23816263	79772148	111382128	17	1310											
ENPEP	2028	broad.mit.edu	37	chr4	111397732	111397732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcgggccgggcactgcGccagctccttcccacctgcc	4	5	13	19	4	0	0	0	0	0	0	2	1	2	0	6	3	3	2	6	3	0	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:111397732G>A	ENST00000265162.5	+	1	504	c.162G>A	c.(160-162)gcG>gcA	p.A54A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	54					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A54A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CGGGCACTGCGCCAGCTCCTT	0.647																																						uc003iab.4																			1	Substitution - coding silent(1)	p.A54A(2)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(160-162)gcG>gcA		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						115	114	114					4																	111397732		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397732G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.162G>A	4.37:g.111397732G>A							p.A54A	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	0	504	+		Hepatocellular(203;0.217)	54					Q504U2	Silent	SNP	ENST00000265162.5	37	c.162G>A	CCDS3691.1																																																																																				0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			A	111397732	G	A	111397732	2	1	21	1	0	0	0	0	0	0	0	1	5128	1074	38	1		1	ENPEP	4	111397732	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	31625584	111397732	79756544	18	1311											
C4orf46	201725	broad.mit.edu	37	chr4	159590866	159590866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaggcaagttcttccaCttgagctgatactgcagatg	10	13	10	8	0	1	4	0	3	1	1	2	4	2	4	1	1	3	4	1	1	3	5			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:159590866C>T	ENST00000379205.4	-	2	485	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	C4orf46_ENST00000508836.1_5'UTR|ETFDH_ENST00000511912.1_5'Flank|ETFDH_ENST00000307738.5_5'Flank|C4orf46_ENST00000508457.1_3'UTR	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	81										kidney(1)|lung(3)|skin(1)	5						AGTTCTTCCACTTGAGCTGAT	0.363																																						uc003iqa.2																			0				kidney(1)|lung(3)|skin(1)	5						c.(241-243)Gtg>Atg		Homo sapiens chromosome 4 open reading frame 46 (C4orf46), mRNA.							66	64	65					4																	159590866		2203	4300	6503	SO:0001583	missense	201725							g.chr4:159590866C>T		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"renal cancer differentiation gene 1"						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.241G>A	4.37:g.159590866C>T	ENSP00000368503:p.Val81Met					C4orf46_uc010iqp.1_Non-coding_Transcript|ETFDH_uc010iqq.3_5'Flank|ETFDH_uc003iqb.3_5'Flank|ETFDH_uc011cjg.2_5'Flank|ETFDH_uc010iqr.3_5'Flank	p.V81M	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN			1	490	-			81					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.241G>A	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154242	0.57259	.	.	ENSG00000205208	ENST00000379205	.	.	.	5.2	4.36	0.52297	.	0.000000	0.37955	N	0.001879	T	0.51312	0.1667	N	0.24115	0.695	0.80722	D	1	P	0.35383	0.498	B	0.42555	0.391	T	0.57653	-0.7774	9	0.72032	D	0.01	.	14.8847	0.70557	0.0:0.8555:0.1445:0.0	.	81	Q504U0	CD046_HUMAN	M	81	.	ENSP00000368503:V81M	V	-	1	0	C4orf46	159810316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.167000	0.50793	1.327000	0.45338	0.552000	0.68991	GTG		0.363	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		T	159590866	C	T	159590866	3	4	21	1	0	0	0	0	1	0	0	0	2274	565	20	3	104	3	C4orf46	4	159590866	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	48193134	159590866	31563410	19	1312											
HCN1	348980	broad.mit.edu	37	chr5	45695840	45695840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgctccttttccaccGccttctggctcccaaacatg	5	14	5	17	1	1	0	0	0	1	0	5	0	5	0	6	1	2	2	6	1	1	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:45695840G>A	ENST00000303230.4	-	1	413	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	119	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTTCCACCGCCTTCTGGCT	0.602																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(355-357)gCg>gTg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							36	38	38					5																	45695840		2199	4291	6490	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695840G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.356C>T	5.37:g.45695840G>A	ENSP00000307342:p.Ala119Val						p.A119V	NM_021072	NP_066550	O60741	HCN1_HUMAN			0	381	-			119			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.356C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939172	0.52972	.	.	ENSG00000164588	ENST00000303230	D	0.82803	-1.65	4.18	4.18	0.49190	Ion transport N-terminal (1);	0.279964	0.22597	N	0.058018	D	0.88618	0.6485	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.89276	0.3608	10	0.87932	D	0	.	11.323	0.49433	0.0923:0.0:0.9077:0.0	.	119	O60741	HCN1_HUMAN	V	119	ENSP00000307342:A119V	ENSP00000307342:A119V	A	-	2	0	HCN1	45731597	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	9.065000	0.93941	2.137000	0.66172	0.555000	0.69702	GCG		0.602	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45695840	G	A	45695840	3	1	21	1	0	0	0	0	1	0	0	0	6996	1087	38	1	2348	1	HCN1	5	45695840	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		45695840	135219420	20	1313											
TMEM161B	153396	broad.mit.edu	37	chr5	87516531	87516531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtattctggaaagtaatGcaatgctggaaagaaaaaaa	18	9	10	4	0	1	1	0	0	1	1	1	3	1	3	0	3	2	4	0	3	8	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:87516531G>C	ENST00000296595.6	-	5	419	c.295C>G	c.(295-297)Cat>Gat	p.H99D	TMEM161B_ENST00000514135.1_Missense_Mutation_p.H99D|TMEM161B_ENST00000509387.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.H88D|TMEM161B_ENST00000511218.1_5'Flank|TMEM161B_ENST00000506536.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	99						integral component of membrane (GO:0016021)		p.H99Y(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGAAAGTAATGCAATGCTGGa	0.299																																						uc003kjc.3																			1	Substitution - Missense(1)	p.H99Y(2)	endometrium(1)	endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(295-297)Cat>Gat		Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.							38	42	41					5																	87516531		2198	4294	6492	SO:0001583	missense	153396					integral to membrane		g.chr5:87516531G>C	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.295C>G	5.37:g.87516531G>C	ENSP00000296595:p.His99Asp					TMEM161B_uc011cty.2_Missense_Mutation_p.H88D|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_5'UTR|TMEM161B_uc011ctx.2_5'UTR	p.H99D	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	4	420	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	99					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.295C>G	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736262	0.69189	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.74328	-0.3701	9	0.56958	D	0.05	-6.7998	19.6155	0.95632	0.0:0.0:1.0:0.0	.	99	Q8NDZ6	T161B_HUMAN	D	99;99;88;99	.	ENSP00000296595:H99D	H	-	1	0	TMEM161B	87552287	1.000000	0.71417	0.987000	0.45799	0.454000	0.32378	7.635000	0.83286	2.712000	0.92718	0.585000	0.79938	CAT		0.299	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		C	87516531	G	C	87516531	3	2	21	1	0	0	0	0	1	0	0	0	16074	1319	46	5	1200	5	TMEM161B	5	87516531	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	41820691	87516531	93398729	21	1314											
BRD8	10902	broad.mit.edu	37	chr5	137485483	137485483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggattcttgctgagcctCcccctaggaatgccaggaaa	9	11	10	11	0	1	1	0	1	1	0	2	4	2	4	4	3	3	1	4	3	3	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:137485483C>T	ENST00000254900.5	-	23	3495	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1042					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGAGCCTCCCCCTAGGAA	0.458																																						uc003lcf.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3124-3126)Gag>Aag		Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.							123	109	114					5																	137485483		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137485483C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3124G>A	5.37:g.137485483C>T	ENSP00000254900:p.Glu1042Lys						p.E1042K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		22	3179	-			1042					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3124G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.538638	0.00942	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.27402	1.94;1.67	4.84	1.03	0.20045	.	0.925692	0.08964	N	0.868328	T	0.15305	0.0369	N	0.24115	0.695	0.19575	N	0.999965	B	0.28933	0.228	B	0.27887	0.084	T	0.28933	-1.0028	10	0.06625	T	0.88	.	4.3611	0.11203	0.0:0.4861:0.1586:0.3552	.	1042	Q9H0E9	BRD8_HUMAN	K	1042;148	ENSP00000254900:E1042K;ENSP00000392646:E148K	ENSP00000254900:E1042K	E	-	1	0	BRD8	137513382	0.000000	0.05858	0.245000	0.24217	0.099000	0.18886	0.063000	0.14410	-0.005000	0.14395	0.650000	0.86243	GAG		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		T	137485483	C	T	137485483	3	4	21	1	0	0	0	0	1	0	0	0	1506	864	30	3	603	3	BRD8	5	137485483	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	49968952	137485483	43429777	22	1315											
PCDHB14	56122	broad.mit.edu	37	chr5	140605384	140605384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttcaaatttctgaagccGattatccccaattttcaagt	12	14	6	9	1	3	1	2	1	1	0	4	3	4	1	3	0	1	1	3	0	5	5	rs147177582		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:140605384G>A	ENST00000239449.4	+	1	2307	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	PCDHB14_ENST00000515856.2_Silent_p.P616P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	769					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGAAGCCGATTATCCCCA	0.448																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2305-2307)ccG>ccA		Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.		G		1,4405		0,1,2202	82	94	90		2307	-8	0	5	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	PCDHB14	NM_018934.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		769/799	140605384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605384G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2307G>A	5.37:g.140605384G>A							p.P769P	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2307	+			769					B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.2307G>A	CCDS4256.1																																																																																				0.448	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140605384	G	A	140605384	2	1	21	1	0	0	0	0	0	0	0	1	11539	1045	37	2		2	PCDHB14	5	140605384	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	3119901	140605384	40309876	23	1316											
ARAP3	64411	broad.mit.edu	37	chr5	141035273	141035273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtgccaaacttctgacggGcaaggtcagaggaggaatgg	12	7	15	7	1	2	2	1	1	1	1	2	4	2	4	1	5	2	1	1	5	4	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:141035273G>A	ENST00000239440.4	-	31	4090	c.4025C>T	c.(4024-4026)gCc>gTc	p.A1342V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A1004V|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.A1173V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1342					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCTGACGGGCAAGGTCAGA	0.592																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(4024-4026)gCc>gTc		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							94	86	89					5																	141035273		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035273G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4025C>T	5.37:g.141035273G>A	ENSP00000239440:p.Ala1342Val					ARAP3_uc003lll.3_Missense_Mutation_p.A293V|ARAP3_uc011dbe.2_Missense_Mutation_p.A1004V|ARAP3_uc003lln.3_Missense_Mutation_p.A1173V	p.A1342V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			30	4103	-			1342					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4025C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342469	0.81911	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.15487	2.42;3.12;2.97	5.66	4.79	0.61399	.	0.164724	0.56097	N	0.000039	T	0.22126	0.0533	L	0.27053	0.805	0.41343	D	0.987311	P;D;D	0.56521	0.885;0.975;0.976	B;P;P	0.54815	0.343;0.736;0.761	T	0.01753	-1.1281	10	0.42905	T	0.14	.	13.9909	0.64367	0.0734:0.0:0.9266:0.0	.	1004;1173;1342	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	1173;1342;1004	ENSP00000421826:A1173V;ENSP00000239440:A1342V;ENSP00000421468:A1004V	ENSP00000239440:A1342V	A	-	2	0	ARAP3	141015457	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.238000	0.78173	1.392000	0.46585	0.655000	0.94253	GCC		0.592	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141035273	G	A	141035273	3	1	21	1	0	0	0	0	1	0	0	0	840	1203	42	3	621	3	ARAP3	5	141035273	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	429889	141035273	39879987	24	1317											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	21	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		55221822	103916841	25	1318											
TM7SF4	81501	broad.mit.edu	37	chr8	105361477	105361477	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactggcctcttcatgaagCgatttttgggcccttgtggt	5	14	12	10	1	2	1	1	1	1	0	2	2	2	1	2	3	1	1	2	3	1	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:105361477C>T	ENST00000297581.2	+	2	746	c.697C>T	c.(697-699)Cga>Tga	p.R233*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.R233*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	233					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CTTCATGAAGCGATTTTTGGG	0.498																																						uc003ylx.1																			0											c.(697-699)Cga>Tga		Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.							100	93	95					8																	105361477		2203	4300	6503	SO:0001587	stop_gained	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361477C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.697C>T	8.37:g.105361477C>T	ENSP00000297581:p.Arg233*						p.R233*	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN			1	746	+			233					B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	c.697C>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.642193	0.96704	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	.	.	.	5.52	5.52	0.82312	.	0.206931	0.39909	N	0.001231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7347	13.4113	0.60944	0.2271:0.7729:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	TM7SF4	105430653	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	2.556000	0.45862	2.624000	0.88883	0.555000	0.69702	CGA		0.498	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		T	105361477	C	T	105361477	4	4	21	1	0	0	0	0	0	1	0	0	15973	760	27	1	699	1	TM7SF4	8	105361477	Nonsense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		105361477	41002545	26	1319											
TG	7038	broad.mit.edu	37	chr8	134144071	134144071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctggagctgctggcGgatgttcagtttgccttggg	4	12	15	10	1	2	0	2	0	0	0	2	2	2	2	2	4	4	4	2	4	0	3	rs376481950		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:134144071G>A	ENST00000220616.4	+	46	7918	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_ENST00000377869.1_Silent_p.A2569A|TG_ENST00000542445.1_Silent_p.A996A|TG_ENST00000519543.1_Silent_p.A759A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2626					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7876-7878)gcG>gcA		Homo sapiens thyroglobulin (TG), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	70	69	70		7878	-6.3	0.6	8		70	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		2626/2769	134144071	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134144071G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7878G>A	8.37:g.134144071G>A						TG_uc010mdw.3_Silent_p.A1385A|TG_uc011ljb.2_Silent_p.A995A|TG_uc011ljc.2_Silent_p.A759A	p.A2626A	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	45	7919	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2626					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7878G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203856	0.09704	4.54E-4	1.16E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-6.32	0.01995	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44406	-0.9330	4	.	.	.	.	1.2973	0.02072	0.3018:0.1032:0.1582:0.4368	.	.	.	.	R	1082	.	.	G	+	1	0	TG	134213253	0.000000	0.05858	0.608000	0.28969	0.491000	0.33493	-3.091000	0.00609	-0.610000	0.05716	-0.339000	0.08088	GGA		0.458	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134144071	G	A	134144071	2	1	21	1	0	0	0	0	0	0	0	1	15810	1103	39	2		2	TG	8	134144071	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	28782594	134144071	12219951	27	1320											
DNAI1	27019	broad.mit.edu	37	chr9	34489407	34489407	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccccaaagactcagaTgaaggacggcggcagcatta	13	6	11	11	2	1	4	1	2	0	2	2	5	2	5	2	3	1	2	2	3	3	1	rs376585656		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:34489407T>A	ENST00000242317.4	+	5	519	c.348T>A	c.(346-348)gaT>gaA	p.D116E	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	116					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAGACTCAGATGAAGGACGGC	0.527									Kartagener syndrome																													uc003zum.3																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(346-348)gaT>gaA		Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.		T	GLU/ASP	0,4406		0,0,2203	154	135	141		348	3.7	1	9		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAI1	NM_012144.2	45	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	possibly-damaging	116/700	34489407	1,13005	2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34489407T>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.348T>A	9.37:g.34489407T>A	ENSP00000242317:p.Asp116Glu						p.D116E	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	4	541	+	all_epithelial(49;0.244)		116					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.348T>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303802	0.81136	0.0	1.16E-4	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.27890	1.64;1.64	6.08	3.74	0.42951	.	0.109676	0.64402	D	0.000010	T	0.18800	0.0451	L	0.33485	1.01	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.04255	-1.0965	10	0.30078	T	0.28	.	7.6757	0.28484	0.0:0.1647:0.0:0.8353	.	116	Q9UI46	DNAI1_HUMAN	E	105;116;105	ENSP00000242317:D116E;ENSP00000395396:D105E	ENSP00000242317:D116E	D	+	3	2	DNAI1	34479407	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.730000	0.38125	0.543000	0.28864	0.533000	0.62120	GAT		0.527	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			A	34489407	T	A	34489407	3	1	21	1	0	0	0	0	1	0	0	0	4609	1461	51	5	366	5	DNAI1	9	34489407	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08		34489407	106724024	28	1321											
ZNF462	58499	broad.mit.edu	37	chr9	109688130	109688130	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattggaaaatgagacagAcagccacccctcttccagca	14	6	7	14	0	1	2	0	1	1	2	2	4	2	3	5	1	2	1	5	1	2	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:109688130A>C	ENST00000277225.5	+	3	2226	c.1937A>C	c.(1936-1938)gAc>gCc	p.D646A	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.D646A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	646					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGAGACAGACAGCCACCCC	0.463																																						uc004bcz.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1936-1938)gAc>gCc		Homo sapiens zinc finger protein 462 (ZNF462), mRNA.							220	230	227					9																	109688130		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688130A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1937A>C	9.37:g.109688130A>C	ENSP00000277225:p.Asp646Ala					MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.D494A|ZNF462_uc004bda.3_Missense_Mutation_p.D494A	p.D646A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			2	2226	+			646					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1937A>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367366	0.41902	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08896	3.04;3.47	5.48	5.48	0.80851	.	0.239831	0.49305	D	0.000155	T	0.10937	0.0267	L	0.36672	1.1	0.80722	D	1	D;B	0.55605	0.972;0.141	P;B	0.47162	0.54;0.091	T	0.12066	-1.0562	9	.	.	.	.	14.431	0.67251	1.0:0.0:0.0:0.0	.	646;646	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	A	646	ENSP00000277225:D646A;ENSP00000414570:D646A	.	D	+	2	0	ZNF462	108727951	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.815000	0.91973	2.205000	0.71048	0.528000	0.53228	GAC		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109688130	A	C	109688130	3	2	21	1	0	0	0	0	1	0	0	0	17923	275	10	5	1943	5	ZNF462	9	109688130	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08	75198723	109688130	31525301	29	1322											
LRRC18	474354	broad.mit.edu	37	chr10	50121549	50121549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattctattcaggttgtcccGggcgttttggcattttctca	5	17	10	9	2	3	0	2	0	2	0	5	1	4	0	1	3	0	3	1	3	1	8	rs201494402	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr10:50121549G>A	ENST00000374160.3	-	1	728	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R218W|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	218						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTGTCCCGGGCGTTTTGG	0.498													G|||	2	0.000399361	8e-04	0	5008	,	,		19872	0		0.001	False		,,,				2504	0					uc001jhd.3																			0		p.A217T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(652-654)Cgg>Tgg		Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.							167	171	170					10																	50121549		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121549G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.652C>T	10.37:g.50121549G>A	ENSP00000363275:p.Arg218Trp					WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R218W	p.R218W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			0	732	-			218					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.652C>T	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471973	0.43942	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.60040	0.41;0.22	5.87	4.94	0.65067	.	0.105223	0.64402	D	0.000008	T	0.65668	0.2713	M	0.73962	2.25	0.43787	D	0.996326	D	0.71674	0.998	P	0.50791	0.65	T	0.68519	-0.5387	9	.	.	.	.	13.0508	0.58954	0.0:0.0:0.5423:0.4577	.	218	Q8N456	LRC18_HUMAN	W	218	ENSP00000363275:R218W;ENSP00000298124:R218W	.	R	-	1	2	LRRC18	49791555	0.854000	0.29725	0.288000	0.24862	0.271000	0.26615	1.917000	0.39996	1.426000	0.47256	0.655000	0.94253	CGG		0.498	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		A	50121549	G	A	50121549	3	1	21	1	0	0	0	0	1	0	0	0	8974	1115	39	2	141	2	LRRC18	10	50121549	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		50121549	85413198	30	1323											
OR56B1	387748	broad.mit.edu	37	chr11	5758585	5758585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagatgaaggctactttgaTtccagttctacttaatgtgt	11	15	9	6	0	1	3	0	2	1	1	2	4	2	3	1	1	2	2	1	1	4	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:5758585T>C	ENST00000317121.3	+	1	905	c.839T>C	c.(838-840)aTt>aCt	p.I280T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTACTTTGATTCCAGTTCTA	0.428																																						uc001mbt.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(838-840)aTt>aCt		Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.							303	281	289					11																	5758585		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758585T>C	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.839T>C	11.37:g.5758585T>C	ENSP00000322939:p.Ile280Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.I280T	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	0	908	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	280					B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.839T>C	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295712	0.23564	.	.	ENSG00000181023	ENST00000317121	T	0.00115	8.71	5.67	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00210	0.0006	L	0.59436	1.845	0.09310	N	1	B	0.27498	0.18	B	0.37451	0.25	T	0.16394	-1.0404	10	0.56958	D	0.05	-4.9639	8.91	0.35548	0.0:0.1539:0.0:0.8461	.	280	Q8NGI3	O56B1_HUMAN	T	280	ENSP00000322939:I280T	ENSP00000322939:I280T	I	+	2	0	OR56B1	5715161	0.000000	0.05858	0.584000	0.28653	0.657000	0.38888	0.542000	0.23222	0.959000	0.37980	0.533000	0.62120	ATT		0.428	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		C	5758585	T	C	5758585	3	2	21	1	0	0	0	0	1	0	0	0	11137	1493	52	4	841	4	OR56B1	11	5758585	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08		5758585	129247931	31	1324											
TRPC6	7225	broad.mit.edu	37	chr11	101323720	101323720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcttgatttggttccatgGataatttctctccaagttct	7	18	6	10	0	3	1	0	1	3	0	6	2	5	2	3	2	0	2	3	2	2	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:101323720G>A	ENST00000344327.3	-	13	3186	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	TRPC6_ENST00000360497.4_Missense_Mutation_p.S866F|TRPC6_ENST00000348423.4_Missense_Mutation_p.S805F|TRPC6_ENST00000532133.1_Missense_Mutation_p.S843F	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	921					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGTTCCATGGATAATTTCTC	0.348																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2761-2763)tCc>tTc		Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.							197	196	196					11																	101323720		2202	4300	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323720G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2762C>T	11.37:g.101323720G>A	ENSP00000340913:p.Ser921Phe					TRPC6_uc009ywy.3_Missense_Mutation_p.S805F	p.S921F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	12	3187	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	921					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2762C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463038	0.43736	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79845	-1.14;-1.22;-1.04;-1.31	5.65	4.74	0.60224	.	0.278041	0.35903	N	0.002919	T	0.77512	0.4141	L	0.29908	0.895	0.40991	D	0.984852	D;P	0.61080	0.989;0.694	P;B	0.52066	0.689;0.176	T	0.79902	-0.1607	10	0.66056	D	0.02	-1.9998	10.8571	0.46804	0.0704:0.1308:0.7988:0.0	.	805;921	Q9Y210-2;Q9Y210	.;TRPC6_HUMAN	F	921;843;805;866	ENSP00000340913:S921F;ENSP00000435574:S843F;ENSP00000343672:S805F;ENSP00000353687:S866F	ENSP00000340913:S921F	S	-	2	0	TRPC6	100828930	1.000000	0.71417	0.062000	0.19696	0.990000	0.78478	3.324000	0.52022	1.402000	0.46780	0.650000	0.86243	TCC		0.348	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		A	101323720	G	A	101323720	3	1	21	1	0	0	0	0	1	0	0	0	16580	1174	41	3	37	3	TRPC6	11	101323720	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	95565135	101323720	33682796	32	1325											
ITGA5	3678	broad.mit.edu	37	chr12	54793512	54793512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggcccgagctcacagcGcagcctgaaacactcagcct	10	4	11	16	2	2	1	2	1	0	0	2	2	2	1	3	2	5	2	3	2	1	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr12:54793512G>A	ENST00000293379.4	-	27	3019	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	920					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCTCACAGCGCAGCCTGAAA	0.552											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sga.3																			0		p.L919L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2758-2760)Cgc>Tgc		Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.							80	82	81					12																	54793512		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54793512G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2758C>T	12.37:g.54793512G>A	ENSP00000293379:p.Arg920Cys		OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1003		p.R920C	NM_002205	NP_002196	P08648	ITA5_HUMAN			26	2826	-			920					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2758C>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755114	0.69648	.	.	ENSG00000161638	ENST00000293379	T	0.52057	0.68	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.463268	0.24085	N	0.041681	T	0.55924	0.1951	L	0.50333	1.59	0.46437	D	0.99904	D	0.67145	0.996	P	0.56788	0.806	T	0.58042	-0.7706	10	0.56958	D	0.05	.	13.2285	0.59929	0.0:0.0:1.0:0.0	.	920	P08648	ITA5_HUMAN	C	920	ENSP00000293379:R920C	ENSP00000293379:R920C	R	-	1	0	ITGA5	53079779	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.722000	0.54948	2.389000	0.81357	0.655000	0.94253	CGC		0.552	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			A	54793512	G	A	54793512	3	1	21	1	0	0	0	0	1	0	0	0	7879	1087	38	1	407	1	ITGA5	12	54793512	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		54793512	79058383	33	1326											
OR4K13	390433	broad.mit.edu	37	chr14	20502539	20502539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaatggaggggtttgcAtatggcaacatacctgtcta	11	12	11	7	0	1	0	0	0	1	0	1	1	1	1	1	4	3	4	1	4	5	5			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:20502539A>G	ENST00000315693.2	-	1	380	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCATATGGCAACA	0.478																																						uc010tkz.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(379-381)Tgc>Cgc		Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.							120	118	119					14																	20502539		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502539A>G		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.379T>C	14.37:g.20502539A>G	ENSP00000319322:p.Cys127Arg						p.C127R	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	0	379	-	all_cancers(95;0.00108)		127					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.379T>C	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.148644	0.37923	.	.	ENSG00000176253	ENST00000315693	T	0.34472	1.36	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.68732	0.3033	H	0.96365	3.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.78003	-0.2374	10	0.87932	D	0	.	11.2957	0.49277	1.0:0.0:0.0:0.0	.	127	Q8NH42	OR4KD_HUMAN	R	127	ENSP00000319322:C127R	ENSP00000319322:C127R	C	-	1	0	OR4K13	19572379	1.000000	0.71417	0.998000	0.56505	0.108000	0.19459	4.983000	0.63832	1.506000	0.48736	0.416000	0.27883	TGC		0.478	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			G	20502539	A	G	20502539	3	3	21	1	0	0	0	0	1	0	0	0	11068	217	8	4	537	4	OR4K13	14	20502539	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08		20502539	86847001	34	1327											
NID2	22795	broad.mit.edu	37	chr14	52535489	52535489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggctgaacttacgtagAggttgctgaatcgggcttcg	8	10	16	7	3	0	3	0	2	0	1	2	3	0	3	0	4	3	5	0	4	4	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:52535489A>G	ENST00000216286.5	-	1	223	c.224T>C	c.(223-225)cTc>cCc	p.L75P	NID2_ENST00000541773.1_Missense_Mutation_p.L22P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	75					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTACGTAGAGGTTGCTGAA	0.612																																						uc001wzo.3																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(223-225)cTc>cCc		Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.							96	81	86					14																	52535489		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535489A>G	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.224T>C	14.37:g.52535489A>G	ENSP00000216286:p.Leu75Pro					NID2_uc010tqs.2_Missense_Mutation_p.L75P|NID2_uc010tqt.1_Missense_Mutation_p.L75P|NID2_uc001wzp.3_Missense_Mutation_p.L75P	p.L75P	NM_007361	NP_031387	Q14112	NID2_HUMAN			0	458	-	Breast(41;0.0639)|all_epithelial(31;0.123)		75					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.224T>C	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445597	0.63178	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.27557	1.66;1.66	4.81	3.65	0.41850	.	0.068037	0.56097	D	0.000035	T	0.53690	0.1812	M	0.88775	2.98	0.54753	D	0.999988	D;D;P	0.64830	0.986;0.994;0.895	P;P;P	0.61070	0.859;0.883;0.467	T	0.55891	-0.8069	10	0.51188	T	0.08	.	8.8124	0.34976	0.9075:0.0:0.0925:0.0	.	22;77;75	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	P	75;75;22;77	ENSP00000216286:L75P;ENSP00000443730:L22P	ENSP00000216286:L75P	L	-	2	0	NID2	51605239	1.000000	0.71417	0.675000	0.29917	0.596000	0.36781	5.977000	0.70492	0.682000	0.31407	0.374000	0.22700	CTC		0.612	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			G	52535489	A	G	52535489	3	3	21	1	0	0	0	0	1	0	0	0	10415	304	11	4	3991	4	NID2	14	52535489	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08	32032950	52535489	54814051	35	1328											
OTX2	5015	broad.mit.edu	37	chr14	57269073	57269073	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcgattcttaaaccataCcttggaagggaaagaaaatt	15	12	7	7	1	2	1	0	0	2	1	3	4	2	3	2	2	2	0	2	2	7	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:57269073C>T	ENST00000555006.1	-	4	658	c.250G>A	c.(250-252)Gta>Ata	p.V84I	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554788.1_Splice_Site_p.G33D|OTX2_ENST00000554559.1_Splice_Site_p.G33D|OTX2_ENST00000339475.5_Splice_Site_p.V92I|OTX2_ENST00000408990.3_Splice_Site_p.V84I			P32243	OTX2_HUMAN	orthodenticle homeobox 2	84					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418																																						uc001xcq.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.e5-1		Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.							99	107	105					14																	57269073		2203	4300	6503	SO:0001630	splice_region_variant	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57269073C>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.250-1G>A	14.37:g.57269073C>T						OTX2_uc001xcp.3_Splice_Site_p.V84_splice|OTX2_uc021rtm.1_Splice_Site|OTX2_uc010aou.3_Splice_Site_p.V84_splice	p.V92_splice	NM_021728	NP_068374	P32243	OTX2_HUMAN			5	548	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		84					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.274_splice	CCDS41960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.535057|3.535057	0.64972|0.64972	.|.	.|.	ENSG00000165588|ENSG00000165588	ENST00000554559|ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.|D;D;D;D;D	.|0.96459	.|-4.02;-4.02;-4.02;-4.02;-4.02	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.41097	.|D	.|0.000944	D|D	0.96911|0.96911	0.8991|0.8991	L|L	0.35414|0.35414	1.06|1.06	0.54753|0.54753	D|D	0.999986|0.999986	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.991	D|D	0.97845|0.97845	1.0271|1.0271	5|10	.|0.87932	.|D	.|0	.|.	18.6695|18.6695	0.91506|0.91506	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|92;84	.|F1T0D1;P32243	.|.;OTX2_HUMAN	D|I	33|92;84;84;92;84	.|ENSP00000343819:V92I;ENSP00000386185:V84I;ENSP00000452336:V84I;ENSP00000451357:V92I;ENSP00000451272:V84I	.|ENSP00000343819:V92I	G|V	-|-	2|1	0|0	OTX2|OTX2	56338826|56338826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	7.798000|7.798000	0.85924|0.85924	2.642000|2.642000	0.89623|0.89623	0.557000|0.557000	0.71058|0.71058	GGT|GTA		0.418	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	Missense_Mutation	T	57269073	C	T	57269073	5	4	21	1	0	0	0	0	0	0	1	0	11321	521	18	3	623	3	OTX2	14	57269073	Splice_Site	SNP	C	TCGA-06-0142-01A-01D-1490-08	4733584	57269073	50080467	36	1329											
TMEM229B	161145	broad.mit.edu	37	chr14	67940183	67940183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagggctagggcgccgctgGgctccccgggctcagcgtcc	3	5	16	17	4	1	0	1	0	0	0	3	0	3	0	5	4	1	4	5	4	1	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:67940183G>A	ENST00000557006.1	-	4	740	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM229B_ENST00000357461.2_Missense_Mutation_p.P153L			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	153						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGCCGCTGGGCTCCCCGGG	0.647																																						uc001xjk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(457-459)cCc>cTc		Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.							45	50	48					14																	67940183		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940183G>A	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.458C>T	14.37:g.67940183G>A	ENSP00000451774:p.Pro153Leu					TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P153L	p.P153L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			2	868	-			153						Missense_Mutation	SNP	ENST00000557006.1	37	c.458C>T	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987378	0.93106	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.17	4.17	0.49024	.	0.381500	0.25302	N	0.031643	T	0.48892	0.1525	N	0.24115	0.695	0.58432	D	0.999999	B	0.31893	0.345	B	0.36534	0.227	T	0.54846	-0.8232	9	0.54805	T	0.06	-25.1633	16.5062	0.84273	0.0:0.0:1.0:0.0	.	153	Q8NBD8	T229B_HUMAN	L	153	.	ENSP00000350050:P153L	P	-	2	0	TMEM229B	67009936	1.000000	0.71417	0.872000	0.34217	0.840000	0.47671	5.854000	0.69503	1.884000	0.54569	0.555000	0.69702	CCC		0.647	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		A	67940183	G	A	67940183	3	1	21	1	0	0	0	0	1	0	0	0	16145	1232	43	3	49	3	TMEM229B	14	67940183	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	10671110	67940183	39409357	37	1330											
KLC1	3831	broad.mit.edu	37	chr14	104135871	104135871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaataaatacaaagatgCagctaacctactgaatgatg	18	9	7	7	0	1	4	1	2	0	2	1	4	1	4	1	0	5	2	1	0	8	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:104135871C>A	ENST00000348520.6	+	6	1140	c.821C>A	c.(820-822)gCa>gAa	p.A274E	KLC1_ENST00000557575.1_Missense_Mutation_p.A274E|KLC1_ENST00000557450.1_Missense_Mutation_p.A274E|KLC1_ENST00000380038.3_Missense_Mutation_p.A274E|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.A446E|KLC1_ENST00000445352.4_Missense_Mutation_p.A272E|KLC1_ENST00000452929.2_Missense_Mutation_p.A274E|KLC1_ENST00000554280.1_Missense_Mutation_p.A274E|KLC1_ENST00000246489.7_Missense_Mutation_p.A274E|KLC1_ENST00000389744.4_Missense_Mutation_p.A274E|KLC1_ENST00000553286.1_Missense_Mutation_p.A274E|KLC1_ENST00000555836.1_Missense_Mutation_p.A274E|KLC1_ENST00000334553.6_Missense_Mutation_p.A274E|KLC1_ENST00000347839.6_Missense_Mutation_p.A274E	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	274					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TACAAAGATGCAGCTAACCTA	0.328																																						uc001yno.3																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(820-822)gCa>gAa		Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.							124	120	122					14																	104135871		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104135871C>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.821C>A	14.37:g.104135871C>A	ENSP00000341154:p.Ala274Glu					KLC1_uc010tyd.1_Missense_Mutation_p.A433E|KLC1_uc010tye.1_Missense_Mutation_p.A270E|KLC1_uc001ynm.1_Missense_Mutation_p.A274E|KLC1_uc010tyf.2_Missense_Mutation_p.A274E	p.A274E	NM_182923	NP_891553	Q07866	KLC1_HUMAN			5	1129	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	274					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.821C>A	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251713	0.95336	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.96525	0.8866	H	0.98577	4.27	0.80722	D	1	D;D;D;D;D	0.89917	0.976;1.0;0.998;0.999;0.977	P;D;D;D;P	0.81914	0.712;0.977;0.983;0.995;0.884	D	0.97830	1.0262	10	0.87932	D	0	-9.7704	19.6493	0.95794	0.0:1.0:0.0:0.0	.	274;274;446;274;272	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	E	274;274;274;274;274;274;274;274;274;274;274;274;274;272;446	ENSP00000341154:A274E;ENSP00000369377:A274E;ENSP00000374394:A274E;ENSP00000450617:A274E;ENSP00000452487:A274E;ENSP00000334618:A274E;ENSP00000452481:A274E;ENSP00000334523:A274E;ENSP00000246489:A274E;ENSP00000450648:A274E;ENSP00000451242:A274E;ENSP00000414982:A274E;ENSP00000412693:A272E;ENSP00000439065:A446E	ENSP00000246489:A274E	A	+	2	0	KLC1;RP11-73M18.2	103205624	1.000000	0.71417	0.867000	0.34043	0.995000	0.86356	7.760000	0.85248	2.711000	0.92665	0.591000	0.81541	GCA		0.328	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		A	104135871	C	A	104135871	3	1	21	1	0	0	0	0	1	0	0	0	8333	710	25	5	839	5	KLC1	14	104135871	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	36195688	104135871	3213669	38	1331											
HDC	3067	broad.mit.edu	37	chr15	50534668	50534668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagtggcttctgagcaCtcactggcacactgttgcaa	8	10	12	11	0	2	1	1	1	1	0	2	1	2	1	0	3	2	6	0	3	1	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:50534668C>A	ENST00000267845.3	-	12	2180	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I	HDC_ENST00000543581.1_Missense_Mutation_p.S560I|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTTCTGAGCACTCACTGGCAC	0.532																																					GBM(95;1627 1936 6910 9570)	uc001zxz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1777-1779)aGt>aTt		Homo sapiens histidine decarboxylase (HDC), mRNA.	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						154	170	164					15																	50534668		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534668C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1778G>T	15.37:g.50534668C>A	ENSP00000267845:p.Ser593Ile					HDC_uc001zxy.3_Missense_Mutation_p.S336I|HDC_uc010uff.2_Missense_Mutation_p.S560I	p.S593I	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	11	2120	-		all_lung(180;0.0138)	593						Missense_Mutation	SNP	ENST00000267845.3	37	c.1778G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949570	0.18356	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10192	3.01;2.9	5.48	2.59	0.31030	.	0.332817	0.26086	N	0.026433	T	0.06872	0.0175	N	0.22421	0.69	0.09310	N	1	B;B	0.28128	0.201;0.09	B;B	0.21360	0.021;0.034	T	0.28870	-1.0030	10	0.87932	D	0	-1.7839	8.1195	0.30963	0.0:0.5743:0.0:0.4257	.	560;593	B7ZM01;P19113	.;DCHS_HUMAN	I	593;560	ENSP00000267845:S593I;ENSP00000440252:S560I	ENSP00000267845:S593I	S	-	2	0	HDC	48321960	0.000000	0.05858	0.036000	0.18154	0.598000	0.36846	0.285000	0.18883	0.686000	0.31488	0.563000	0.77884	AGT		0.532	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			A	50534668	C	A	50534668	3	1	21	1	0	0	0	0	1	0	0	0	7015	565	20	5	214	5	HDC	15	50534668	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		50534668	51996724	39	1332											
MESP2	145873	broad.mit.edu	37	chr15	90321328	90321328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccagagccctgtctgtcGctgggagctccatctctcct	4	12	9	16	1	3	1	0	0	3	1	8	2	5	2	4	1	2	2	4	1	0	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90321328G>A	ENST00000341735.3	+	2	957	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Silent_p.S21S	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	319					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGTCTGTCGCTGGGAGCTC	0.597																																						uc002bon.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(955-957)tcG>tcA		Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.							49	52	51					15																	90321328		1990	4170	6160	SO:0001819	synonymous_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90321328G>A		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.957G>A	15.37:g.90321328G>A						MESP2_uc010uqa.2_Silent_p.S21S	p.S319S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	957	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		319					Q7RTU2	Silent	SNP	ENST00000341735.3	37	c.957G>A	CCDS42078.1																																																																																				0.597	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90321328	G	A	90321328	2	1	21	1	0	0	0	0	0	0	0	1	9483	1074	38	1		1	MESP2	15	90321328	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	39786660	90321328	12210064	40	1333											
C15orf38	348110	broad.mit.edu	37	chr15	90451602	90451602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcgtcgaatttacggcGatggatgtgactgggccgga	7	10	16	8	5	0	1	0	1	0	0	1	5	0	3	1	5	1	0	1	5	2	3	rs374275505		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90451602G>A	ENST00000357484.5	-	3	331	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.R71C|C15orf38_ENST00000460685.1_5'UTR	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		71					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AATTTACGGCGATGGATGTGA	0.567																																						uc002bos.4																			0											c.(211-213)Cgc>Tgc		Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.		G	CYS/ARG,CYS/ARG	0,4196		0,0,2098	113	118	116		211,211	2.7	0.7	15		116	2,8424		0,2,4211	no	missense,missense	C15orf38,C15orf38-AP3S2	NM_182616.2,NM_001199058.1	180,180	0,2,6309	AA,AG,GG		0.0237,0.0,0.0158	benign,benign	71/227,71/395	90451602	2,12620	2098	4213	6311	SO:0001583	missense	10239				intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity	g.chr15:90451602G>A																												ENST00000357484.5:c.211C>T	15.37:g.90451602G>A	ENSP00000350075:p.Arg71Cys					C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Missense_Mutation_p.R71C	p.R71C	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN			2	366	-			71					E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.211C>T	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300701	0.40694	0.0	2.37E-4	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.49720	0.77	5.58	2.66	0.31614	.	0.070956	0.56097	U	0.000024	T	0.36468	0.0968	L	0.45228	1.405	0.80722	D	1	B;B	0.14805	0.011;0.009	B;B	0.11329	0.006;0.005	T	0.14448	-1.0472	10	0.56958	D	0.05	-11.06	7.1343	0.25519	0.1521:0.0:0.7099:0.1379	.	71;71	Q7Z6K5;E2QRD5	CO038_HUMAN;.	C	71	ENSP00000381377:R71C	ENSP00000381377:R71C	R	-	1	0	C15orf38-AP3S2;C15orf38	88252606	1.000000	0.71417	0.656000	0.29637	0.023000	0.10783	2.420000	0.44679	0.298000	0.22638	0.551000	0.68910	CGC		0.567	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			A	90451602	G	A	90451602	3	1	21	1	0	0	0	0	1	0	0	0	1792	1058	37	2	485	2	C15orf38	15	90451602	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	130274	90451602	12079790	41	1334											
PLCG2	5336	broad.mit.edu	37	chr16	81944227	81944227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttcagcagcatctatgcCctcatccagcactaccgcga	10	8	6	17	2	3	0	2	0	1	0	4	1	4	0	4	0	5	3	4	0	2	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr16:81944227C>T	ENST00000359376.3	+	18	2050	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	612	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCATCTATGCCCTCATCCAGC	0.642																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1834-1836)gcC>gcT		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							175	191	186					16																	81944227		2157	4264	6421	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944227C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1836C>T	16.37:g.81944227C>T						PLCG2_uc010chg.1_Silent_p.A612A	p.A612A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			17	2014	+			612			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1836C>T	CCDS42204.1																																																																																				0.642	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			T	81944227	C	T	81944227	2	4	21	1	0	0	0	0	0	0	0	1	12036	610	22	3		3	PLCG2	16	81944227	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08		81944227	8410526	42	1335											
DNAH2	146754	broad.mit.edu	37	chr17	7668816	7668816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagaaattcaagacaggCctgatccactcggcagatga	15	6	11	9	1	1	5	1	2	0	3	3	6	2	5	2	3	0	1	2	3	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:7668816C>T	ENST00000572933.1	+	21	4904	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	DNAH2_ENST00000389173.2_Silent_p.G1148G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1148	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAAGACAGGCCTGATCCACT	0.463																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3442-3444)ggC>ggT		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							117	108	111					17																	7668816		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7668816C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3444C>T	17.37:g.7668816C>T							p.G1148G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			19	3458	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1148			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.3444C>T	CCDS32551.1																																																																																				0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7668816	C	T	7668816	2	4	21	1	0	0	0	0	0	0	0	1	4602	726	26	3		3	DNAH2	17	7668816	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08		7668816	73526394	43	1336											
MYH4	4622	broad.mit.edu	37	chr17	10352234	10352234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcaggcagcattagatcGttccacatcaatcatgaggt	12	11	9	9	1	2	2	2	1	0	1	4	2	3	2	1	2	2	4	1	2	3	3	rs370141150		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:10352234G>A	ENST00000255381.2	-	31	4422	c.4312C>T	c.(4312-4314)Cga>Tga	p.R1438*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1438					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTAGATCGTTCCACATCA	0.438																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4312-4314)Cga>Tga		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.		G	stop/ARG	0,4406		0,0,2203	106	98	101		4312	2.6	0.3	17		101	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1438/1940	10352234	1,13005	2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352234G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4312C>T	17.37:g.10352234G>A	ENSP00000255381:p.Arg1438*					AK097500_uc002gml.1_Intron	p.R1438*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			30	4423	-			1438						Nonsense_Mutation	SNP	ENST00000255381.2	37	c.4312C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	41	9.115501	0.99071	0.0	1.16E-4	ENSG00000141048	ENST00000255381	.	.	.	4.96	2.57	0.30868	.	0.000000	0.35151	U	0.003416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7247	0.62750	0.0:0.0:0.4729:0.5271	.	.	.	.	X	1438	.	ENSP00000255381:R1438X	R	-	1	2	MYH4	10292959	0.854000	0.29725	0.305000	0.25099	0.972000	0.66771	1.066000	0.30604	0.865000	0.35603	-0.410000	0.06199	CGA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10352234	G	A	10352234	4	1	21	1	0	0	0	0	0	1	0	0	10037	1153	40	1	1547	1	MYH4	17	10352234	Nonsense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	2683418	10352234	70842976	44	1337											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e4+1		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	p.S147_splice	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	484	-	Breast(5;2.15e-14)		147			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	-	62500102	ACAG	-	62500099	8	5	21	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-06-0142-01A-01D-1490-08	52147865	62500099	18695111	45	1338											
CPAMD8	27151	broad.mit.edu	37	chr19	17122460	17122460	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaatacagaagcgccccgGccgtccacggtcaccgaggt	10	5	12	14	5	1	2	1	1	0	1	2	3	2	2	5	3	2	0	5	3	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:17122460G>T	ENST00000443236.1	-	4	547	c.516C>A	c.(514-516)ggC>ggA	p.G172G	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Silent_p.G125G	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	125						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGCGCCCCGGCCGTCCACGG	0.672																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(514-516)ggC>ggA		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							50	55	54					19																	17122460		1872	4105	5977	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122460G>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.516C>A	19.37:g.17122460G>T							p.G172G	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			3	548	-			125					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.516C>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848200	0.02651	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	T	0.67192	0.2867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66392	-0.5935	4	.	.	.	.	13.0628	0.59015	0.0:0.0:1.0:0.0	.	.	.	.	D	183	.	.	A	-	2	0	CPAMD8	16983460	1.000000	0.71417	0.376000	0.26042	0.014000	0.08584	4.491000	0.60326	1.281000	0.44480	0.591000	0.81541	GCC		0.672	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17122460	G	T	17122460	2	4	21	1	0	0	0	0	0	0	0	1	3795	1190	42	5		5	CPAMD8	19	17122460	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08		17122460	42006523	46	1339											
ZNF626	199777	broad.mit.edu	37	chr19	20807475	20807475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagtacttaaaagctttgCcacattcttcacatttgtag	12	14	7	8	0	2	0	1	0	1	0	2	1	2	1	1	1	3	3	1	1	4	7			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:20807475C>G	ENST00000601440.1	-	4	1354	c.1208G>C	c.(1207-1209)gGc>gCc	p.G403A	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAAGCTTTGCCACATTCTTC	0.398																																						uc002npb.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1207-1209)gGc>gCc		Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.							58	62	61					19																	20807475		2151	4277	6428	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807475C>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1208G>C	19.37:g.20807475C>G	ENSP00000469958:p.Gly403Ala					ZNF626_uc002npc.1_Missense_Mutation_p.G327A	p.G403A	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			3	1358	-			403					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1208G>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	6.264	0.416766	0.11870	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68412	0.2998	M	0.74546	2.27	0.80722	D	1	D	0.69078	0.997	D	0.65233	0.933	T	0.67094	-0.5757	8	0.72032	D	0.01	.	7.1275	0.25479	0.0:1.0:0.0:0.0	.	403	Q68DY1	ZN626_HUMAN	A	403;327;403	.	ENSP00000445201:G403A	G	-	2	0	ZNF626	20599315	0.812000	0.29077	0.020000	0.16555	0.020000	0.10135	1.385000	0.34408	0.284000	0.22305	0.289000	0.19496	GGC		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		G	20807475	C	G	20807475	3	3	21	1	0	0	0	0	1	0	0	0	18047	739	26	5	382	5	ZNF626	19	20807475	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	3685015	20807475	38321508	47	1340											
PRODH2	58510	broad.mit.edu	37	chr19	36303630	36303630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaaggtggaaggccccGccatcaaagctcagggactg	10	6	12	13	1	2	0	2	0	0	0	2	2	2	2	4	4	1	1	4	4	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:36303630G>A	ENST00000301175.3	-	2	323	c.306C>T	c.(304-306)ggC>ggT	p.G102G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	102					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGGCCCCGCCATCAAAGC	0.652																																						uc002obx.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(304-306)ggC>ggT		Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.							39	40	40					19																	36303630		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303630G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.306C>T	19.37:g.36303630G>A							p.G102G	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	324	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		102						Silent	SNP	ENST00000301175.3	37	c.306C>T	CCDS12478.1																																																																																				0.652	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		A	36303630	G	A	36303630	2	1	21	1	0	0	0	0	0	0	0	1	12549	1074	38	1		1	PRODH2	19	36303630	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	15496155	36303630	22825353	48	1341											
PSG1	5669	broad.mit.edu	37	chr19	43376102	43376102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccaccacaggtagcttgCgtctggagtctcagggtcac	8	9	11	13	1	3	0	2	0	2	0	5	1	4	1	2	3	2	2	2	3	1	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:43376102C>T	ENST00000436291.2	-	3	642	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG1_ENST00000244296.2_Missense_Mutation_p.A176T|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.A176T|PSG1_ENST00000312439.6_Missense_Mutation_p.A176T	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	176	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGGTAGCTTGCGTCTGGAGTC	0.527																																						uc002ovd.1																			0		p.A176T(1)|p.D175D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(526-528)Gca>Aca		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							252	239	243					19																	43376102		2201	4299	6500	SO:0001583	missense	5669				defense response|female pregnancy	extracellular region		g.chr19:43376102C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.526G>A	19.37:g.43376102C>T	ENSP00000413041:p.Ala176Thr					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.A176T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.A176T|PSG3_uc002ovb.3_Missense_Mutation_p.A176T	p.A176T	NM_006905	NP_008836	Q16557	PSG3_HUMAN			2	664	-		Prostate(69;0.00682)	176			Ig-like C2-type 1.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.526G>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.746280	0.00669	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12465	2.68;2.68;2.68	1.46	-2.93	0.05598	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04952	0.0133	N	0.16037	0.36	0.09310	N	1	B;B;B;B;B;B;B;B	0.24963	0.026;0.055;0.068;0.001;0.002;0.115;0.012;0.055	B;B;B;B;B;B;B;B	0.26864	0.057;0.027;0.027;0.008;0.002;0.074;0.028;0.016	T	0.42103	-0.9471	9	0.06625	T	0.88	.	2.2142	0.03955	0.0:0.2599:0.3149:0.4251	.	176;176;176;176;176;48;176;176	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	T	176	ENSP00000413041:A176T;ENSP00000308970:A176T;ENSP00000244296:A176T	ENSP00000244296:A176T	A	-	1	0	PSG1	48067942	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.944000	0.03913	-0.204000	0.10235	0.184000	0.17185	GCA		0.527	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43376102	C	T	43376102	3	4	21	1	0	0	0	0	1	0	0	0	12653	768	27	1	802	1	PSG1	19	43376102	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	7072472	43376102	15752881	49	1342											
ZNF8	7554	broad.mit.edu	37	chr19	58806753	58806753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaagagctctgcaggcGgagcaaaggcagggcagccg	12	2	16	11	2	1	2	0	0	1	2	1	3	1	3	2	4	4	5	2	4	2	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:58806753G>A	ENST00000196548.5	+	4	1710	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	ZNF8_ENST00000608843.1_Missense_Mutation_p.G527R|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	527					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTCTGCAGGCGGAGCAAAGGC	0.557																																						uc002qry.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(1579-1581)Gga>Aga		Homo sapiens zinc finger protein 8 (ZNF8), mRNA.							56	62	60					19																	58806753		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806753G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1579G>A	19.37:g.58806753G>A	ENSP00000196548:p.Gly527Arg					ZNF8_uc002qrz.3_Non-coding_Transcript	p.G527R	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	3	1709	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	527					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1579G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743547	0.49151	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.05786	3.39	4.8	1.46	0.22682	.	0.636971	0.13696	N	0.369202	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.37820	-0.9689	10	0.87932	D	0	-5.2952	8.3296	0.32178	0.0997:0.3873:0.513:0.0	.	527	P17098	ZNF8_HUMAN	R	527;242	ENSP00000196548:G527R	ENSP00000196548:G527R	G	+	1	0	ZNF8	63498565	0.004000	0.15560	0.001000	0.08648	0.672000	0.39443	0.758000	0.26447	0.717000	0.32145	0.549000	0.68633	GGA		0.557	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		A	58806753	G	A	58806753	3	1	21	1	0	0	0	0	1	0	0	0	18164	1117	39	2	1593	2	ZNF8	19	58806753	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	15430651	58806753	322230	50	1343											
GTSF1L	149699	broad.mit.edu	37	chr20	42355070	42355070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagacctgctgggtgtcatCgttctgctctgaactaggag	7	12	13	9	1	3	2	1	2	2	1	4	4	3	3	1	2	3	3	1	2	2	2	rs143516837	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:42355070C>T	ENST00000373003.1	-	1	568	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GTSF1L_ENST00000373005.2_Missense_Mutation_p.D89N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	89							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGGTGTCATCGTTCTGCTCT	0.517													C|||	2	0.000399361	0.0015	0	5008	,	,		20087	0		0	False		,,,				2504	0					uc002xld.3																			0		p.D89G(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(265-267)Gat>Aat		Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.		C	ASN/ASP,ASN/ASP	17,4389	24.3+/-50.5	0,17,2186	134	112	120		265,265	-0.8	0	20	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense	GTSF1L	NM_001008901.1,NM_176791.3	23,23	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	benign,benign	89/124,89/149	42355070	17,12989	2203	4300	6503	SO:0001583	missense	149699						metal ion binding	g.chr20:42355070C>T	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.265G>A	20.37:g.42355070C>T	ENSP00000362094:p.Asp89Asn					GTSF1L_uc002xlc.3_Missense_Mutation_p.D89N	p.D89N	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		0	573	-		Myeloproliferative disorder(115;0.00452)	89					Q5JWH5	Missense_Mutation	SNP	ENST00000373003.1	37	c.265G>A	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664374	0.14710	0.003858	0.0	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.43294	0.95;0.98	3.31	-0.832	0.10785	.	2.388520	0.02250	N	0.066497	T	0.25121	0.0610	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10683	-1.0619	10	0.19147	T	0.46	-8.3104	6.098	0.20031	0.0:0.4958:0.0:0.5042	.	89;89	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	N	89	ENSP00000362094:D89N;ENSP00000362096:D89N	ENSP00000362094:D89N	D	-	1	0	GTSF1L	41788484	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.733000	0.04898	-0.135000	0.11495	0.430000	0.28490	GAT		0.517	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		T	42355070	C	T	42355070	3	4	21	1	0	0	0	0	1	0	0	0	6887	884	31	2	185	2	GTSF1L	20	42355070	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		42355070	20670450	51	1344											
SPINLW1	57119	broad.mit.edu	37	chr20	44171338	44171338	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggggcccctaggacttaCgtttattcttgcaggtgttc	6	13	11	11	2	1	0	0	0	1	0	2	1	1	1	3	4	2	3	3	4	3	7	rs199533646		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:44171338C>T	ENST00000354280.4	-	3	458		c.e3+1		EPPIN_ENST00000336443.3_Splice_Site|EPPIN_ENST00000409554.1_Splice_Site|EPPIN_ENST00000555685.1_Splice_Site|EPPIN-WFDC6_ENST00000504988.1_Splice_Site	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTAGGACTTACGTTTATTCTT	0.507																																						uc010zxc.2																			0											c.e3+1		Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.							160	172	168					20																	44171338		2203	4300	6503	SO:0001630	splice_region_variant	57119					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44171338C>T	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"WAP four-disulfide core domain containing"	15932	protein-coding gene	gene with protein product	"epididymal protease inhibitor", "cancer/testis antigen 72"	609031	"serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)", "serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.391+1G>A	20.37:g.44171338C>T						SPINLW1-WFDC6_uc002xou.3_Splice_Site_p.R131_splice|SPINLW1-WFDC6_uc002xov.2_3'UTR	p.Q131_splice	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN			3	460	-			131					A6PVD6|Q86TP9|Q96SD7|Q9HD30	Splice_Site	SNP	ENST00000354280.4	37	c.391_splice	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323261	0.41096	.	.	ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000249139	ENST00000555685;ENST00000354280;ENST00000336443;ENST00000504988	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6999	0.57026	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPINLW1;SPINLW1-WFDC6	43604752	0.994000	0.37717	0.755000	0.31263	0.003000	0.03518	4.221000	0.58574	2.454000	0.82982	0.563000	0.77884	.		0.507	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4		Intron	T	44171338	C	T	44171338	5	4	21	1	0	0	0	0	0	0	1	0	15066	550	19	1	17	1	SPINLW1	20	44171338	Splice_Site	SNP	C	TCGA-06-0142-01A-01D-1490-08	1816268	44171338	18854182	52	1345											
COL6A2	1292	broad.mit.edu	37	chr21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagggagtccaggggagcGaggagaccaaggcggcaagg	12	1	20	8	2	0	1	0	0	0	1	1	5	1	3	2	7	2	2	2	7	2	0	rs368588676		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr21:47537831G>A	ENST00000300527.4	+	12	1201	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_ENST00000310645.5_Missense_Mutation_p.R366Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R366Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.R366Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	366	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1096-1098)cGa>cAa		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	68	66	67		1097,1097,1097	-8.9	0	21		67	0,8592		0,0,4296	no	missense,missense,missense	COL6A2	NM_058175.2,NM_058174.2,NM_001849.3	43,43,43	0,1,6491	AA,AG,GG		0.0,0.0228,0.0077	benign,benign,benign	366/829,366/919,366/1020	47537831	1,12983	2196	4296	6492	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47537831G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1097G>A	21.37:g.47537831G>A	ENSP00000300527:p.Arg366Gln					COL6A2_uc002zhz.1_Missense_Mutation_p.R366Q|COL6A2_uc002zhy.1_Missense_Mutation_p.R366Q	p.R366Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	11	1179	+	Breast(49;0.245)		366			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1097G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	3.811	-0.039724	0.07497	2.28E-4	0.0	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.93659	-3.26;-3.26;-3.2;-3.2;-3.26	4.46	-8.92	0.00774	.	0.990388	0.08199	N	0.982630	T	0.78817	0.4343	N	0.04636	-0.2	0.19300	N	0.999976	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.68047	-0.5512	10	0.12766	T	0.61	1.5049	9.3706	0.38252	0.357:0.4206:0.2225:0.0	.	366;366;366	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	366	ENSP00000300527:R366Q;ENSP00000350497:R366Q;ENSP00000312529:R366Q;ENSP00000387115:R366Q;ENSP00000380870:R366Q	ENSP00000300527:R366Q	R	+	2	0	COL6A2	46362259	0.000000	0.05858	0.011000	0.14972	0.179000	0.23085	-1.598000	0.02087	-2.704000	0.00397	0.305000	0.20034	CGA		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47537831	G	A	47537831	3	1	21	1	0	0	0	0	1	0	0	0	3700	1058	37	2	1139	2	COL6A2	21	47537831	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		47537831	592064	53	1346											
EMID1	129080	broad.mit.edu	37	chr22	29621149	29621149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctctgcctccttggagcCcatgtggtcgggcagtacca	5	11	11	14	1	1	0	0	0	1	0	4	1	3	1	5	3	3	2	5	3	1	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:29621149C>T	ENST00000404820.3	+	4	474	c.347C>T	c.(346-348)cCc>cTc	p.P116L	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.P116L|EMID1_ENST00000334018.6_Missense_Mutation_p.P116L			Q96A84	EMID1_HUMAN	EMI domain containing 1	114						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTTGGAGCCCATGTGGTCG	0.637																																						uc003aem.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(346-348)cCc>cTc		Homo sapiens EMI domain containing 1 (EMID1), mRNA.							123	111	115					22																	29621149		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29621149C>T	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.347C>T	22.37:g.29621149C>T	ENSP00000384452:p.Pro116Leu					EMID1_uc003aen.3_Missense_Mutation_p.P114L	p.P116L	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			3	422	+			114					B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.347C>T		.	.	.	.	.	.	.	.	.	.	C	15.39	2.819178	0.50633	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820	D;T;D;D	0.90385	-2.65;0.76;-2.51;-2.66	4.62	4.62	0.57501	.	0.143660	0.32608	N	0.005873	D	0.94268	0.8159	M	0.72118	2.19	0.53688	D	0.99997	D;B;B;D	0.89917	1.0;0.007;0.002;1.0	D;B;B;D	0.91635	0.997;0.004;0.006;0.999	D	0.94385	0.7608	10	0.72032	D	0.01	-7.4969	13.148	0.59474	0.0:1.0:0.0:0.0	.	116;116;114;116	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	L	116	ENSP00000335481:P116L;ENSP00000403816:P116L;ENSP00000385414:P116L;ENSP00000384452:P116L	ENSP00000335481:P116L	P	+	2	0	EMID1	27951149	0.768000	0.28519	0.648000	0.29521	0.090000	0.18270	3.658000	0.54482	2.547000	0.85894	0.655000	0.94253	CCC		0.637	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		T	29621149	C	T	29621149	3	4	21	1	0	0	0	0	1	0	0	0	5091	623	22	3	361	3	EMID1	22	29621149	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		29621149	21683417	54	1347											
SFI1	9814	broad.mit.edu	37	chr22	31985517	31985517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagactctggcgatggCgccaccaggaaaatgtcctc	11	6	12	12	2	1	1	0	0	1	1	3	4	2	3	3	4	1	0	3	4	3	0	rs200458156		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:31985517C>T	ENST00000400288.2	+	15	1603	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	SFI1_ENST00000414585.1_Missense_Mutation_p.R347C|SFI1_ENST00000432498.1_Missense_Mutation_p.R469C|SFI1_ENST00000400289.1_Missense_Mutation_p.R418C|SFI1_ENST00000443011.1_Missense_Mutation_p.R347C|SFI1_ENST00000443326.1_Missense_Mutation_p.R418C|SFI1_ENST00000540643.1_Missense_Mutation_p.R445C	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	500					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGGCGATGGCGCCACCAGGA	0.532																																						uc003ale.3																			0		p.R500H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(1498-1500)Cgc>Tgc		Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.							111	112	112					22																	31985517		2063	4208	6271	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31985517C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1498C>T	22.37:g.31985517C>T	ENSP00000383145:p.Arg500Cys					SFI1_uc003ald.1_Missense_Mutation_p.R476C|SFI1_uc003alf.3_Missense_Mutation_p.R469C|SFI1_uc003alg.3_Missense_Mutation_p.R418C|SFI1_uc011alp.2_Missense_Mutation_p.R418C|SFI1_uc011alq.2_Missense_Mutation_p.R445C|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	p.R500C	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			14	1891	+			500					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.1498C>T	CCDS43004.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	9.529	1.110378	0.20714	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16324	2.95;3.01;2.82;2.8;2.81;2.82;2.93;2.35	4.91	2.83	0.33086	.	0.719556	0.13873	N	0.356850	T	0.08758	0.0217	N	0.08118	0	0.25177	N	0.990237	B;B;B;B;B;B	0.17465	0.011;0.022;0.003;0.011;0.001;0.011	B;B;B;B;B;B	0.15484	0.006;0.007;0.001;0.01;0.0;0.013	T	0.27020	-1.0086	10	0.46703	T	0.11	.	8.1843	0.31330	0.0:0.8104:0.0:0.1896	.	445;418;418;469;500;476	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	C	469;445;418;476;347;347;418;500;115	ENSP00000402679:R469C;ENSP00000443025:R445C;ENSP00000416469:R418C;ENSP00000397148:R347C;ENSP00000401199:R347C;ENSP00000383146:R418C;ENSP00000383145:R500C;ENSP00000398871:R115C	ENSP00000383145:R500C	R	+	1	0	SFI1	30315517	0.000000	0.05858	0.407000	0.26434	0.006000	0.05464	-0.438000	0.06905	0.769000	0.33313	-0.355000	0.07637	CGC		0.532	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		T	31985517	C	T	31985517	3	4	21	1	0	0	0	0	1	0	0	0	14156	768	27	1	1552	1	SFI1	22	31985517	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	2364368	31985517	19319049	55	1348											
MTMR8	55613	broad.mit.edu	37	chrX	63569901	63569901	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttccaaccaccgttcccAaggtaacagatttaggaacc	14	8	6	13	1	0	1	0	0	0	1	2	2	2	2	5	2	4	2	5	2	6	5			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chrX:63569901A>C	ENST00000374852.3	-	5	585	c.518T>G	c.(517-519)tTg>tGg	p.L173W	MTMR8_ENST00000453546.1_Missense_Mutation_p.L173W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	173	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACCGTTCCCAAGGTAACAGA	0.348																																						uc004dvs.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(517-519)tTg>tGg		Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.							122	102	109					X																	63569901		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569901A>C	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.518T>G	X.37:g.63569901A>C	ENSP00000363985:p.Leu173Trp					MTMR8_uc011mou.2_Missense_Mutation_p.L173W	p.L173W	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			4	608	-			173			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.518T>G	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	A	9.831	1.188376	0.21954	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.92805	-3.11;-3.11	2.96	1.63	0.23807	Myotubularin phosphatase domain (1);Myotubularin-related (1);	1.151490	0.06989	U	0.821191	D	0.92916	0.7746	L	0.39898	1.24	0.09310	N	1	D;D	0.64830	0.994;0.989	P;D	0.70227	0.868;0.968	T	0.82916	-0.0220	10	0.66056	D	0.02	.	6.176	0.20444	0.6919:0.0:0.0:0.308	.	173;173	B4DQL0;Q96EF0	.;MTMR8_HUMAN	W	173	ENSP00000394003:L173W;ENSP00000363985:L173W	ENSP00000363985:L173W	L	-	2	0	MTMR8	63486626	0.000000	0.05858	0.333000	0.25482	0.976000	0.68499	0.070000	0.14573	1.193000	0.43086	0.417000	0.27973	TTG		0.348	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		C	63569901	A	C	63569901	3	2	21	1	0	0	0	0	1	0	0	0	9949	131	5	5	1636	5	MTMR8	23	63569901	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08		63569901	91700659	56	1349											
CAMTA1	23261	broad.mit.edu	37	chr1	7798426	7798426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcacaggtgcgtccaCgggaaccaatgagtgtcctg	9	8	11	13	2	1	1	1	1	0	0	3	2	3	2	4	2	2	0	4	2	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:7798426C>T	ENST00000303635.7	+	16	4273	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1356W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGTGCGTCCACGGGAACCAAT	0.512			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4066-4068)Cgg>Tgg		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							87	76	80					1																	7798426		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798426C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4066C>T	1.37:g.7798426C>T	ENSP00000306522:p.Arg1356Trp					CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.4_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.3_Missense_Mutation_p.R312W	p.R1356W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	4273	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1356					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4066C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606697	0.66558	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.28666	1.63;1.6	4.92	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	L	0.50333	1.59	0.49299	D	0.999776	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.70935	0.971;0.936;0.952;0.918	T	0.29941	-0.9995	10	0.37606	T	0.19	-22.4483	12.4095	0.55459	0.3157:0.6843:0.0:0.0	.	1356;443;312;1356	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	W	1356;1356;443;312	ENSP00000306522:R1356W;ENSP00000402561:R1356W	ENSP00000306522:R1356W	R	+	1	2	CAMTA1	7721013	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	2.738000	0.47401	1.126000	0.42016	0.655000	0.94253	CGG		0.512	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7798426	C	T	7798426	3	4	22	1	0	0	0	0	1	0	0	0	2613	527	19	1	4128	1	CAMTA1	1	7798426	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		7798426	241452195	1	1350											
PADI3	51702	broad.mit.edu	37	chr1	17575699	17575699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggtgtgtgtggctggcGtggagaccctcgtggacatt	4	10	18	9	4	0	1	0	0	0	1	1	3	0	2	1	5	0	1	1	5	0	1	rs200183399	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:17575699G>A	ENST00000375460.3	+	1	107	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGCTGGCGTGGAGACCCT	0.617													G|||	2	0.000399361	0	0.0029	5008	,	,		16995	0		0	False		,,,				2504	0					uc001bai.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(67-69)Gtg>Atg		Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	L-Citrulline(DB00155)						154	131	139					1																	17575699		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575699G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.67G>A	1.37:g.17575699G>A	ENSP00000364609:p.Val23Met						p.V23M	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	107	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	23					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.67G>A	CCDS179.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.44	2.535639	0.45176	.	.	ENSG00000142619	ENST00000375460	T	0.11712	2.75	5.56	4.64	0.57946	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.453059	0.22672	N	0.057043	T	0.08268	0.0206	N	0.21373	0.66	0.30697	N	0.750674	B	0.22146	0.065	B	0.24155	0.051	T	0.08229	-1.0732	10	0.35671	T	0.21	-17.1493	10.6214	0.45483	0.0894:0.0:0.9106:0.0	.	23	Q9ULW8	PADI3_HUMAN	M	23	ENSP00000364609:V23M	ENSP00000364609:V23M	V	+	1	0	PADI3	17448286	0.958000	0.32768	0.999000	0.59377	0.997000	0.91878	1.380000	0.34351	1.349000	0.45751	0.561000	0.74099	GTG		0.617	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			A	17575699	G	A	17575699	3	1	22	1	0	0	0	0	1	0	0	0	11379	1145	40	1	69	1	PADI3	1	17575699	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9777273	17575699	231674922	2	1351											
GRHL3	57822	broad.mit.edu	37	chr1	24663202	24663202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggacagctacctgttacCcaccactgatatgtatgata	11	12	8	10	0	0	2	0	2	0	0	0	3	0	3	3	1	3	3	3	1	5	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:24663202C>T	ENST00000350501.5	+	4	624	c.497C>T	c.(496-498)cCc>cTc	p.P166L	GRHL3_ENST00000361548.4_Missense_Mutation_p.P166L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P120L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P73L|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.P171L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	166					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TACCTGTTACCCACCACTGAT	0.602																																						uc021oiw.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(496-498)cCc>cTc		Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.							90	98	95					1																	24663202		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663202C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.497C>T	1.37:g.24663202C>T	ENSP00000288955:p.Pro166Leu					GRHL3_uc001bix.3_Missense_Mutation_p.P166L|GRHL3_uc021oix.1_Missense_Mutation_p.P120L|GRHL3_uc001biy.3_Missense_Mutation_p.P171L|GRHL3_uc001biz.3_Missense_Mutation_p.P73L	p.P166L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	3	727	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	166					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.497C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566943	0.45694	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12569	2.98;2.67;2.96;2.97;2.98	6.02	6.02	0.97574	.	0.072392	0.64402	D	0.000016	T	0.16428	0.0395	L	0.57536	1.79	0.54753	D	0.999984	B;P;B	0.35793	0.18;0.521;0.275	B;B;B	0.26202	0.03;0.067;0.067	T	0.01397	-1.1365	10	0.39692	T	0.17	-29.6949	19.5289	0.95219	0.0:1.0:0.0:0.0	.	120;171;166	A2A297;Q8TE85-2;G3XAF0	.;.;.	L	166;73;166;120;171	ENSP00000354943:P166L;ENSP00000340543:P73L;ENSP00000288955:P166L;ENSP00000348333:P120L;ENSP00000236255:P171L	ENSP00000236255:P171L	P	+	2	0	GRHL3	24535789	0.966000	0.33281	1.000000	0.80357	0.474000	0.32979	3.937000	0.56575	2.865000	0.98341	0.655000	0.94253	CCC		0.602	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		T	24663202	C	T	24663202	3	4	22	1	0	0	0	0	1	0	0	0	6765	623	22	3	547	3	GRHL3	1	24663202	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	7087503	24663202	224587419	3	1352											
MCOLN3	55283	broad.mit.edu	37	chr1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcataagcatgattcccaaCggagacattgtatagctgca	13	10	8	10	1	1	2	1	1	0	1	2	3	2	2	1	1	4	4	1	1	4	5	rs144793042	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:85499910C>T	ENST00000370589.2	-	4	473	c.421G>A	c.(421-423)Gtt>Att	p.V141I	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V141I|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V85I	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	141					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													C|||	3	0.000599042	0.0023	0	5008	,	,		19208	0		0	False		,,,				2504	0					uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(421-423)Gtt>Att		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.		C	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	128	110	116		421	3.9	0.4	1	dbSNP_134	116	0,8600		0,0,4300	yes	missense	MCOLN3	NM_018298.9	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	141/554	85499910	8,12998	2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85499910C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.421G>A	1.37:g.85499910C>T	ENSP00000359621:p.Val141Ile					MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	p.V141I	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	3	568	-			141					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.421G>A	CCDS701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.63	1.405559	0.25378	0.001816	0.0	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.59906	0.23;0.23;0.23	5.86	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.39147	1.195	0.31994	N	0.604203	P;D;D	0.57257	0.911;0.979;0.965	B;P;B	0.44772	0.369;0.46;0.271	T	0.08269	-1.0730	10	0.13853	T	0.58	2.7027	11.2681	0.49122	0.126:0.8075:0.0:0.0664	.	141;85;141	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	I	141;141;85;85;141	ENSP00000359621:V141I;ENSP00000342698:V85I;ENSP00000359619:V141I	ENSP00000304843:V141I	V	-	1	0	MCOLN3	85272498	0.181000	0.23161	0.397000	0.26308	0.107000	0.19398	0.771000	0.26633	1.441000	0.47550	0.655000	0.94253	GTT		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		T	85499910	C	T	85499910	3	4	22	1	0	0	0	0	1	0	0	0	9397	536	19	1	1280	1	MCOLN3	1	85499910	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	60836708	85499910	163750711	4	1353											
RGL1	23179	broad.mit.edu	37	chr1	183895313	183895313	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgacttcattttgcgcAaaaagaactccatggaagaa	15	11	7	8	1	1	3	1	1	0	2	2	4	2	4	1	1	2	1	1	1	5	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:183895313A>T	ENST00000360851.3	+	18	2372	c.2194A>T	c.(2194-2196)Aaa>Taa	p.K732*	RGL1_ENST00000536277.1_Nonsense_Mutation_p.K730*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.K703*|RGL1_ENST00000304685.4_Nonsense_Mutation_p.K767*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	732	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATTTTGCGCAAAAAGAACTC	0.443																																						uc001gqm.3																			0		p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2299-2301)Aaa>Taa		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							108	103	104					1																	183895313		2203	4300	6503	SO:0001587	stop_gained	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895313A>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2194A>T	1.37:g.183895313A>T	ENSP00000354097:p.Lys732*					RGL1_uc010pog.2_Nonsense_Mutation_p.K730*|RGL1_uc010poh.2_Nonsense_Mutation_p.K730*|RGL1_uc001gqo.3_Nonsense_Mutation_p.K732*|RGL1_uc010poi.2_Nonsense_Mutation_p.K703*	p.K767*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			18	2760	+			732					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	ENST00000360851.3	37	c.2299A>T		.	.	.	.	.	.	.	.	.	.	A	42	9.497760	0.99187	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	.	.	.	5.37	5.37	0.77165	.	0.163209	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3322	0.74223	1.0:0.0:0.0:0.0	.	.	.	.	X	767;767;730;732;703	.	ENSP00000303192:K767X	K	+	1	0	RGL1	182161936	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.797000	0.55514	2.153000	0.67306	0.528000	0.53228	AAA		0.443	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		T	183895313	A	T	183895313	4	4	22	1	0	0	0	0	0	1	0	0	13276	131	5	5	2369	5	RGL1	1	183895313	Nonsense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	98395403	183895313	65355308	5	1354											
DISP1	84976	broad.mit.edu	37	chr1	223116326	223116326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaaaagtgagtccaaatgGatgcctgcaacttaatggca	16	8	9	8	0	0	1	0	1	0	0	1	2	1	2	2	2	4	2	2	2	6	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:223116326G>A	ENST00000284476.6	+	2	325	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DISP1_ENST00000360254.2_Missense_Mutation_p.G54E|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	54					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTCCAAATGGATGCCTGCAA	0.507																																						uc001hnu.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(160-162)gGa>gAa		Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.							216	188	197					1																	223116326		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116326G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.161G>A	1.37:g.223116326G>A	ENSP00000284476:p.Gly54Glu						p.G54E	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	3	487	+			54					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.161G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188681	0.78789	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.96232	-0.34;-3.95	5.62	5.62	0.85841	.	0.218099	0.38837	N	0.001542	D	0.96944	0.9002	M	0.69823	2.125	0.54753	D	0.999985	D	0.60575	0.988	P	0.51657	0.676	D	0.96477	0.9353	10	0.45353	T	0.12	-19.5086	19.6445	0.95771	0.0:0.0:1.0:0.0	.	54	Q96F81	DISP1_HUMAN	E	54	ENSP00000355848:G54E;ENSP00000284476:G54E	ENSP00000284476:G54E	G	+	2	0	DISP1	221182949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.652000	0.90054	0.650000	0.86243	GGA		0.507	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		A	223116326	G	A	223116326	3	1	22	1	0	0	0	0	1	0	0	0	4539	1174	41	3	163	3	DISP1	1	223116326	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	39221013	223116326	26134295	6	1355											
RYR2	6262	broad.mit.edu	37	chr1	237780709	237780709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttccgatacaacgaaGtcatgcaagccttaaacatg	15	9	7	10	3	1	0	1	0	0	0	2	2	2	0	2	0	6	2	2	0	7	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237780709G>C	ENST00000366574.2	+	38	6156	c.5839G>C	c.(5839-5841)Gtc>Ctc	p.V1947L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1945L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1931L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATACAACGAAGTCATGCAAGC	0.448																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5839-5841)Gtc>Ctc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							103	97	99					1																	237780709		2009	4202	6211	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780709G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5839G>C	1.37:g.237780709G>C	ENSP00000355533:p.Val1947Leu						p.V1947L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5959	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1947			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5839G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336823	0.11013	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70749	-0.51;-0.51;-0.51	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000028	T	0.48519	0.1504	N	0.11154	0.105	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.46871	-0.9160	10	0.06625	T	0.88	.	14.0546	0.64759	0.0:0.0:0.8492:0.1508	.	1947	Q92736	RYR2_HUMAN	L	1947;1945;1931	ENSP00000355533:V1947L;ENSP00000353174:V1945L;ENSP00000443798:V1931L	ENSP00000353174:V1945L	V	+	1	0	RYR2	235847332	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	3.824000	0.55723	2.517000	0.84864	0.650000	0.86243	GTC		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237780709	G	C	237780709	3	2	22	1	0	0	0	0	1	0	0	0	13769	1029	36	5	5989	5	RYR2	1	237780709	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	14664383	237780709	11469912	7	1356											
RYR2	6262	broad.mit.edu	37	chr1	237863752	237863752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattggccagcatcagttcGgagaagacctaatatgtatg	13	11	10	7	1	1	2	1	0	0	2	2	3	1	2	2	2	1	3	2	2	5	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237863752G>A	ENST00000366574.2	+	65	9669	c.9352G>A	c.(9352-9354)Gga>Aga	p.G3118R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G3116R|RYR2_ENST00000542537.1_Missense_Mutation_p.G3102R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3118					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATCAGTTCGGAGAAGACCT	0.373																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9352-9354)Gga>Aga		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							39	37	37					1																	237863752		1847	4089	5936	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237863752G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9352G>A	1.37:g.237863752G>A	ENSP00000355533:p.Gly3118Arg					RYR2_uc010pxz.1_Missense_Mutation_p.G73R	p.G3118R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		64	9472	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3118					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9352G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603669	0.87157	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.64991	-0.13;1.61;-0.13	4.88	4.88	0.63580	.	0.000000	0.56097	U	0.000021	T	0.82102	0.4964	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85881	0.1422	10	0.87932	D	0	.	18.4026	0.90522	0.0:0.0:1.0:0.0	.	3118	Q92736	RYR2_HUMAN	R	3118;3116;3102;73;113	ENSP00000355533:G3118R;ENSP00000353174:G3116R;ENSP00000443798:G3102R	ENSP00000353174:G3116R	G	+	1	0	RYR2	235930375	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.397000	0.81536	0.563000	0.77884	GGA		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237863752	G	A	237863752	3	1	22	1	0	0	0	0	1	0	0	0	13769	1117	39	2	9610	2	RYR2	1	237863752	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	83043	237863752	11386869	8	1357											
C2orf78	388960	broad.mit.edu	37	chr2	74040759	74040759	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctacagccatcagccTctggcacctccttccagcca	8	8	7	18	0	2	0	1	0	1	0	4	0	4	0	6	2	4	2	6	2	1	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:74040759T>A	ENST00000409561.1	+	2	374	c.253T>A	c.(253-255)Tct>Act	p.S85T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	85	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATCAGCCTCTGGCACCTC	0.527																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(253-255)Tct>Act		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.							53	55	54					2																	74040759		1992	4165	6157	SO:0001583	missense	388960							g.chr2:74040759T>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.253T>A	2.37:g.74040759T>A	ENSP00000387124:p.Ser85Thr						p.S85T	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			1	374	+			85			Ser-rich.			Missense_Mutation	SNP	ENST00000409561.1	37	c.253T>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.405952	0.25378	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.32023	1.47	4.7	0.814	0.18756	.	0.000000	0.34986	U	0.003532	T	0.39064	0.1064	M	0.64676	1.99	0.09310	N	1	D	0.63046	0.992	P	0.59761	0.863	T	0.16424	-1.0403	10	0.33940	T	0.23	-0.793	5.3595	0.16079	0.0:0.0945:0.3463:0.5591	.	85	A6NCI8	CB078_HUMAN	T	85	ENSP00000387124:S85T	ENSP00000340692:S85T	S	+	1	0	C2orf78	73894267	0.085000	0.21516	0.001000	0.08648	0.003000	0.03518	1.394000	0.34509	0.041000	0.15688	-0.461000	0.05368	TCT		0.527	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		A	74040759	T	A	74040759	3	1	22	1	0	0	0	0	1	0	0	0	2195	1551	54	5	259	5	C2orf78	2	74040759	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		74040759	169158614	9	1358											
EDAR	10913	broad.mit.edu	37	chr2	109526984	109526984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcggagaacatcaccacGttgtctgcagggaaatgggg	10	9	13	9	2	3	1	1	0	2	1	4	3	3	2	1	4	2	2	1	4	2	2	rs370264160		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:109526984G>A	ENST00000258443.2	-	9	1165	c.735C>T	c.(733-735)aaC>aaT	p.N245N	EDAR_ENST00000376651.1_Silent_p.N277N|EDAR_ENST00000409271.1_Silent_p.N277N	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	245					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACATCACCACGTTGTCTGCAG	0.552																																						uc010fjn.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(829-831)aaC>aaT		Homo sapiens ectodysplasin A receptor (EDAR), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	89	84	85		735	-7.2	0	2		85	0,8600		0,0,4300	no	coding-synonymous	EDAR	NM_022336.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		245/449	109526984	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109526984G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.735C>T	2.37:g.109526984G>A						EDAR_uc010yws.2_Silent_p.N277N|EDAR_uc002teq.4_Silent_p.N245N	p.N277N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			8	1378	-			245					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.831C>T	CCDS2081.1																																																																																				0.552	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			A	109526984	G	A	109526984	2	1	22	1	0	0	0	0	0	0	0	1	4905	1136	40	1		1	EDAR	2	109526984	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	35486225	109526984	133672389	10	1359											
PCDP1	200373	broad.mit.edu	37	chr2	120385326	120385326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtgctgcccttcgctttCccagactgcagcccacccca	6	8	9	18	1	0	1	0	0	0	1	2	2	1	1	5	1	4	3	5	1	0	2	rs369030643		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:120385326C>T	ENST00000413369.3	+	16	1701	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Silent_p.F252F	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CCTTCGCTTTCCCAGACTGCA	0.557																																						uc002tmb.3																			0											c.(754-756)ttC>ttT		Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.		C		0,4406		0,0,2203	103	104	103		756	2.5	1	2		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCDP1	NM_001029996.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		252/555	120385326	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200373					cilium	calmodulin binding	g.chr2:120385326C>T																												ENST00000413369.3:c.1614C>T	2.37:g.120385326C>T						PCDP1_uc010yyq.2_Silent_p.F382F	p.F252F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			16	1868	+	Colorectal(110;0.196)		538						Silent	SNP	ENST00000413369.3	37	c.756C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	1.039	-0.679567	0.03353	0.0	1.16E-4	ENSG00000163075	ENST00000443972;ENST00000413057	.	.	.	4.27	2.48	0.30137	.	.	.	.	.	T	0.54679	0.1873	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47535	-0.9110	4	.	.	.	-25.1852	6.6822	0.23127	0.0:0.7885:0.0:0.2115	.	.	.	.	F	97;86	.	.	S	+	2	0	AC069154.2	120101796	1.000000	0.71417	0.989000	0.46669	0.032000	0.12392	0.689000	0.25437	0.740000	0.32651	0.655000	0.94253	TCC		0.557	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			T	120385326	C	T	120385326	2	4	22	1	0	0	0	0	0	0	0	1	11572	854	30	3		3	PCDP1	2	120385326	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	10858342	120385326	122814047	11	1360											
POTEE	445582	broad.mit.edu	37	chr2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcagggacactgacGtgaacaagaaggacaagcaa	16	5	11	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	5	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:131976471G>A	ENST00000356920.5	+	1	590	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.V166M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	166					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGACACTGACGTGAACAAGAA	0.592																																						uc002tsn.2																			0											c.(496-498)Gtg>Atg		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							142	144	144					2																	131976471		2202	4299	6501	SO:0001583	missense	445582						ATP binding	g.chr2:131976471G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.496G>A	2.37:g.131976471G>A	ENSP00000439189:p.Val166Met					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.V166M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	548	+			166					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.496G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.887	0.533134	0.13188	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.69040	-0.37;0.4	1.05	-2.11	0.07187	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60130	0.2245	M	0.82323	2.585	0.09310	N	1	D	0.64830	0.994	P	0.45946	0.498	T	0.55256	-0.8169	9	0.10111	T	0.7	.	0.4843	0.00553	0.2242:0.3331:0.2329:0.2098	.	166	Q6S8J3	POTEE_HUMAN	M	166	ENSP00000439189:V166M;ENSP00000443049:V166M	ENSP00000439189:V166M	V	+	1	0	AC131180.1	131692941	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-1.874000	0.01636	-1.957000	0.01021	0.162000	0.16502	GTG		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	131976471	G	A	131976471	3	1	22	1	0	0	0	0	1	0	0	0	12264	1145	40	1	498	1	POTEE	2	131976471	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	11591145	131976471	111222902	12	1361											
THSD7B	80731	broad.mit.edu	37	chr2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgcttgttccttacgctCgcggtgaagtcaagcctcgg	5	12	13	11	4	1	1	1	1	0	0	4	1	2	1	2	2	3	3	2	2	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:137814211C>T	ENST00000409968.1	+	3	539	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	THSD7B_ENST00000413152.2_Missense_Mutation_p.R90C|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.R121C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	121	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(268-270)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							77	84	81					2																	137814211		2062	4203	6265	SO:0001583	missense	80731							g.chr2:137814211C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.361C>T	2.37:g.137814211C>T	ENSP00000387145:p.Arg121Cys					THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	p.R90C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	1	268	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	C	12.18	1.862074	0.32884	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.38;2.24;1.85	6.07	6.07	0.98685	.	0.972227	0.08512	N	0.934707	T	0.17323	0.0416	N	0.14661	0.345	0.23936	N	0.996414	B	0.33528	0.416	B	0.26614	0.071	T	0.15896	-1.0421	9	.	.	.	.	15.1216	0.72447	0.0:0.8591:0.1409:0.0	.	90	C9JKN6	.	C	121;121;90	ENSP00000387145:R121C;ENSP00000272643:R121C;ENSP00000413841:R90C	.	R	+	1	0	THSD7B	137530681	0.000000	0.05858	0.016000	0.15963	0.142000	0.21351	0.968000	0.29357	2.890000	0.99128	0.585000	0.79938	CGC		0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	137814211	C	T	137814211	3	4	22	1	0	0	0	0	1	0	0	0	15877	884	31	2	274	2	THSD7B	2	137814211	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	5837740	137814211	105385162	13	1362											
XIRP2	129446	broad.mit.edu	37	chr2	168101563	168101563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttcagaggaagttttgAaaaagatcaaaaccttaaaa	19	10	7	5	0	2	3	2	1	0	2	2	4	2	4	1	1	1	2	1	1	8	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:168101563A>G	ENST00000409195.1	+	9	3750	c.3661A>G	c.(3661-3663)Aaa>Gaa	p.K1221E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K999E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1221E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1046					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAGTTTTGAAAAAGATCAA	0.308																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3661-3663)Aaa>Gaa		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							46	44	45					2																	168101563		1807	4070	5877	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101563A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3661A>G	2.37:g.168101563A>G	ENSP00000386840:p.Lys1221Glu					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.3_Missense_Mutation_p.K999E|XIRP2_uc010fpr.3_Intron	p.K1221E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3750	+			1046					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3661A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	9.872	1.199098	0.22121	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02709	4.19;4.19;4.19	5.76	3.41	0.39046	.	0.288417	0.38778	N	0.001565	T	0.02342	0.0072	L	0.40543	1.245	0.29036	N	0.885393	B;B;B	0.30741	0.293;0.01;0.01	B;B;B	0.25140	0.058;0.009;0.013	T	0.41627	-0.9498	10	0.18710	T	0.47	-10.7546	5.3347	0.15951	0.6956:0.1495:0.155:0.0	.	1046;1046;999	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	1221;1221;999	ENSP00000386840:K1221E;ENSP00000295237:K1221E;ENSP00000387255:K999E	ENSP00000295237:K1221E	K	+	1	0	XIRP2	167809809	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	1.779000	0.38624	0.474000	0.27392	0.533000	0.62120	AAA		0.308	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168101563	A	G	168101563	3	3	22	1	0	0	0	0	1	0	0	0	17427	247	9	4	3691	4	XIRP2	2	168101563	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	30287352	168101563	75097810	14	1363											
TTN	7273	broad.mit.edu	37	chr2	179469622	179469622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcttggtggggatgggCggtctggaaaggaatcaaca	10	10	16	5	1	3	0	1	0	2	0	3	4	3	3	0	7	1	0	0	7	3	2	rs375895183		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:179469622C>T	ENST00000591111.1	-	231	49495	c.49271G>A	c.(49270-49272)cGc>cAc	p.R16424H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9192H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9125H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9000H|TTN_ENST00000342992.6_Missense_Mutation_p.R15497H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18065H			Q8WZ42	TITIN_HUMAN	titin	16424			R -> P. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGATGGGCGGTCTGGAAA	0.418																																						uc021vsy.1																			0		p.S15496T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46489-46491)cGc>cAc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3803		0,1,1901	114	106	109		26999,46490,27374,27575	5.7	1	2		109	0,8254		0,0,4127	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6028	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9000/26927,15497/33424,9125/27052,9192/27119	179469622	1,12057	1902	4127	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469622C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49271G>A	2.37:g.179469622C>T	ENSP00000465570:p.Arg16424His					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9192H|TTN_uc021vta.1_Missense_Mutation_p.R9125H|TTN_uc021vtb.1_Missense_Mutation_p.R9000H	p.R15497H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		229	46715	-			16424			Fibronectin type-III 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46490G>A		.	.	.	.	.	.	.	.	.	.	C	15.86	2.957856	0.53400	2.63E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.74	5.74	0.90152	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68568	0.3015	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70139	-0.4954	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	9000;9125;9192;16424	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15497;9000;9192;9125;9000	ENSP00000343764:R15497H;ENSP00000434586:R9000H;ENSP00000340554:R9192H;ENSP00000352154:R9125H	ENSP00000340554:R9192H	R	-	2	0	TTN	179177867	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.729000	0.84864	2.873000	0.98535	0.563000	0.77884	CGC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179469622	C	T	179469622	3	4	22	1	0	0	0	0	1	0	0	0	16732	768	27	1	53827	1	TTN	2	179469622	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	11368059	179469622	63729751	15	1364											
UGT1A5	54579	broad.mit.edu	37	chr2	234621856	234621856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtacatcaaagaagagaaCtttttcaccctgacaacgta	16	10	6	9	1	2	3	2	1	0	2	2	4	2	3	1	0	3	2	1	0	6	4	rs17874940		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:234621856C>T	ENST00000373414.3	+	1	219	c.219C>T	c.(217-219)aaC>aaT	p.N73N	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.N73N|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	73						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AAGAAGAGAACTTTTTCACCC	0.512																																						uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(217-219)aaC>aaT		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						103	95	97					2																	234621856		2203	4300	6503	SO:0001819	synonymous_variant	54579				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234621856C>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.219C>T	2.37:g.234621856C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.N73N	p.N73N	NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	219	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	72					B8K294	Silent	SNP	ENST00000373414.3	37	c.219C>T	CCDS33404.1																																																																																				0.512	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		T	234621856	C	T	234621856	2	4	22	1	0	0	0	0	0	0	0	1	16945	564	20	3		3	UGT1A5	2	234621856	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	55152234	234621856	8577517	16	1365											
GRM7	2917	broad.mit.edu	37	chr3	6903093	6903093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatggtccagctgaggaaGctgctccgcgtcctgacttt	7	10	12	12	2	0	2	0	2	0	0	3	3	3	3	3	2	4	4	3	2	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:6903093G>T	ENST00000357716.4	+	1	292	c.18G>T	c.(16-18)aaG>aaT	p.K6N	GRM7_ENST00000486284.1_Missense_Mutation_p.K6N|GRM7_ENST00000403881.1_Missense_Mutation_p.K6N|GRM7_ENST00000389336.4_Missense_Mutation_p.K6N|GRM7_ENST00000402647.2_Missense_Mutation_p.K6N	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	6					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGCTGAGGAAGCTGCTCCGCG	0.721																																						uc003bqm.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(16-18)aaG>aaT		Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						12	10	11					3																	6903093		2101	4096	6197	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903093G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.18G>T	3.37:g.6903093G>T	ENSP00000350348:p.Lys6Asn					GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	p.K6N	NM_000844	NP_000835	Q14831	GRM7_HUMAN			0	292	+			6					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.18G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804591	0.31869	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89810	-2.52;-2.56;-2.56;-2.57;-2.56	4.9	3.89	0.44902	.	0.730807	0.11896	N	0.519180	T	0.77928	0.4204	N	0.08118	0	0.28181	N	0.92817	B;B;B	0.14012	0.009;0.005;0.003	B;B;B	0.14023	0.01;0.004;0.01	T	0.69363	-0.5165	10	0.49607	T	0.09	.	10.174	0.42927	0.1401:0.0:0.8598:0.0	.	6;6;6	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	N	6	ENSP00000350348:K6N;ENSP00000417536:K6N;ENSP00000373987:K6N;ENSP00000385664:K6N;ENSP00000384585:K6N	ENSP00000350348:K6N	K	+	3	2	GRM7	6878093	0.009000	0.17119	0.963000	0.40424	0.907000	0.53573	0.068000	0.14531	2.246000	0.74042	0.462000	0.41574	AAG		0.721	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		T	6903093	G	T	6903093	3	4	22	1	0	0	0	0	1	0	0	0	6802	962	34	5	20	5	GRM7	3	6903093	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		6903093	191119337	17	1366											
PRKCD	5580	broad.mit.edu	37	chr3	53213676	53213676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccacatctatgaggggCgcgtcatccagattgtgcta	9	10	11	11	2	2	2	1	1	1	1	3	2	3	2	2	2	2	1	2	2	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:53213676C>T	ENST00000394729.2	+	3	527	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	PRKCD_ENST00000330452.3_Missense_Mutation_p.R67C	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R67C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CTATGAGGGGCGCGTCATCCA	0.582																																						uc003dgl.3																			1	Substitution - Missense(1)	p.R67C(2)	central_nervous_system(1)	breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(199-201)Cgc>Tgc		Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.							85	69	74					3																	53213676		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53213676C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.199C>T	3.37:g.53213676C>T	ENSP00000378217:p.Arg67Cys					PRKCD_uc003dgm.3_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	p.R67C	NM_006254	NP_997704	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	3	552	+		Ovarian(412;0.0728)	67			C2.	Interaction with phosphotyrosine- containing peptide.	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.199C>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506925	0.64410	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.84298	-0.53;-0.53;-1.83	4.97	4.97	0.65823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.97	D	0.93978	0.7255	10	0.87932	D	0	.	17.1648	0.86812	0.0:1.0:0.0:0.0	.	67;67	C9K0E3;Q05655	.;KPCD_HUMAN	C	67	ENSP00000378217:R67C;ENSP00000331602:R67C;ENSP00000419629:R67C	ENSP00000331602:R67C	R	+	1	0	PRKCD	53188716	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	5.810000	0.69179	2.578000	0.87016	0.655000	0.94253	CGC		0.582	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			T	53213676	C	T	53213676	3	4	22	1	0	0	0	0	1	0	0	0	12509	768	27	1	205	1	PRKCD	3	53213676	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	46310583	53213676	144808754	18	1367											
ST6GAL1	6480	broad.mit.edu	37	chr3	186791960	186791960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtggtaccagaatcCggattataatttctttaaca	12	16	6	7	1	2	1	1	0	1	1	3	2	3	2	2	2	2	1	2	2	5	8			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:186791960C>T	ENST00000169298.3	+	7	1492	c.818C>T	c.(817-819)cCg>cTg	p.P273L	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P273L|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P42L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)	p.P273L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TACCAGAATCCGGATTATAAT	0.488																																						uc003frb.3																			1	Substitution - Missense(1)	p.P273L(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(817-819)cCg>cTg		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.							94	98	96					3																	186791960		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186791960C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.818C>T	3.37:g.186791960C>T	ENSP00000169298:p.Pro273Leu					ST6GAL1_uc003frc.3_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P273L	p.P273L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	6	1451	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		273					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.818C>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224578	0.79576	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000427315;ENST00000448044;ENST00000442023	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.55	5.55	0.83447	.	0.050627	0.85682	D	0.000000	T	0.59280	0.2182	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.61613	-0.7027	10	0.62326	D	0.03	-27.3071	17.3798	0.87401	0.0:1.0:0.0:0.0	.	273	P15907	SIAT1_HUMAN	L	273;42;42;273;42	ENSP00000169298:P273L;ENSP00000412221:P42L;ENSP00000389337:P273L;ENSP00000403063:P42L	ENSP00000169298:P273L	P	+	2	0	ST6GAL1	188274654	0.997000	0.39634	0.920000	0.36463	0.989000	0.77384	4.640000	0.61368	2.789000	0.95967	0.655000	0.94253	CCG		0.488	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		T	186791960	C	T	186791960	3	4	22	1	0	0	0	0	1	0	0	0	15220	652	23	2	832	2	ST6GAL1	3	186791960	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	133578284	186791960	11230470	19	1368											
UGT2A1	10941	broad.mit.edu	37	chr4	70455275	70455275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttggctcctttgtggcGcatgacaaactcgatccaga	8	11	11	11	2	0	2	0	1	0	1	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:70455275G>A	ENST00000503640.1	-	6	1454	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R633C|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R423C|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R476C|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R467C	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	467					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTTTGTGGCGCATGACAAAC	0.478																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1897-1899)Cgc>Tgc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							135	132	133					4																	70455275		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455275G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1399C>T	4.37:g.70455275G>A	ENSP00000424478:p.Arg467Cys					UGT2A1_uc010ihu.3_Missense_Mutation_p.R467C|UGT2A1_uc003hem.4_Missense_Mutation_p.R467C|UGT2A1_uc010ihs.3_Missense_Mutation_p.R476C|UGT2A1_uc021xox.1_Missense_Mutation_p.R432C|UGT2A1_uc010iht.3_Missense_Mutation_p.R423C	p.R633C	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			6	2013	-			467					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1897C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085372	0.55861	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.84156	2.68	.	.	.	D;P;P;B;B	0.89917	1.0;0.76;0.641;0.108;0.302	D;B;B;B;B	0.87578	0.998;0.221;0.165;0.023;0.066	D	0.87617	0.2507	9	0.66056	D	0.02	.	15.8962	0.79336	0.0:0.0:1.0:0.0	.	633;633;423;476;467	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	C	476;467;423;633;467	ENSP00000387888:R476C;ENSP00000424478:R467C;ENSP00000421432:R423C;ENSP00000425497:R633C;ENSP00000286604:R467C	ENSP00000286604:R467C	R	-	1	0	UGT2A1	70489864	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.845000	0.48254	2.526000	0.85167	0.579000	0.79373	CGC		0.478	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		A	70455275	G	A	70455275	3	1	22	1	0	0	0	0	1	0	0	0	16950	1087	38	1	188	1	UGT2A1	4	70455275	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		70455275	120699001	20	1369											
FRAS1	80144	broad.mit.edu	37	chr4	79362349	79362349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccactctcatttCaccatttttttgctactgat	9	15	6	11	0	2	2	2	1	1	1	3	3	2	2	2	1	3	2	2	1	1	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:79362349C>A	ENST00000325942.6	+	41	6003	c.5563C>A	c.(5563-5565)Cac>Aac	p.H1855N	FRAS1_ENST00000264895.6_Missense_Mutation_p.H1855N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1855					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCATTTCACCATTTTTT	0.418																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5563-5565)Cac>Aac		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							114	103	107					4																	79362349		1895	4122	6017	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79362349C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5563C>A	4.37:g.79362349C>A	ENSP00000326330:p.His1855Asn					FRAS1_uc003hkw.3_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.2_Missense_Mutation_p.H275N	p.H1855N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			40	6003	+			1854					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5563C>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.81|10.81	1.456345|1.456345	0.26161|0.26161	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944;ENST00000512123	T;T|.	0.28454|.	1.61;1.61|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.050749|.	0.85682|.	D|.	0.000000|.	T|.	0.60560|.	0.2278|.	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	B;B|.	0.33448|.	0.145;0.412|.	B;B|.	0.27887|.	0.032;0.084|.	T|.	0.51260|.	-0.8728|.	10|.	0.08179|.	T|.	0.78|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1855;1855|.	E9PHH6;A2RRR8|.	.;.|.	N|X	1855;1855;275|304;83	ENSP00000326330:H1855N;ENSP00000264895:H1855N|.	ENSP00000264895:H1855N|.	H|S	+|+	1|2	0|0	FRAS1|FRAS1	79581373|79581373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.281000|2.281000	0.43452|0.43452	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.418	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79362349	C	A	79362349	3	1	22	1	0	0	0	0	1	0	0	0	6042	826	29	5	5725	5	FRAS1	4	79362349	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	8907074	79362349	111791927	21	1370											
OSTC	58505	broad.mit.edu	37	chr4	109571929	109571929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgctctggtggtggtgTcttacttcctcatcaccgga	5	15	11	10	1	4	0	2	0	2	0	5	1	5	1	2	4	2	2	2	4	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:109571929T>C	ENST00000361564.4	+	1	190	c.118T>C	c.(118-120)Tct>Cct	p.S40P	OSTC_ENST00000505745.1_3'UTR|OSTC_ENST00000512478.2_Missense_Mutation_p.S40P|RNU6-431P_ENST00000383874.1_RNA	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	40					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGGTGGTGTCTTACTTCCT	0.612																																						uc003hzb.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(118-120)Tct>Cct		Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.							57	54	55					4																	109571929		2203	4300	6503	SO:0001583	missense	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109571929T>C	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"DC2 protein"		"oligosaccharyltransferase complex subunit"			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.118T>C	4.37:g.109571929T>C	ENSP00000354676:p.Ser40Pro						p.S40P	NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN			0	189	+			40					A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	c.118T>C	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	.	32	5.155466	0.94686	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.80653	-1.4;-1.4	4.94	4.94	0.65067	.	0.000000	0.85682	U	0.000000	D	0.90807	0.7113	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92294	0.5844	9	.	.	.	.	14.9165	0.70801	0.0:0.0:0.0:1.0	.	40	Q9NRP0	OSTC_HUMAN	P	40	ENSP00000354676:S40P;ENSP00000426167:S40P	.	S	+	1	0	OSTC	109791378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.376000	0.79658	1.985000	0.57927	0.460000	0.39030	TCT		0.612	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227		C	109571929	T	C	109571929	3	2	22	1	0	0	0	0	1	0	0	0	11296	1667	58	4	120	4	OSTC	4	109571929	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	30209580	109571929	81582347	22	1371											
DCHS2	54798	broad.mit.edu	37	chr4	155226289	155226289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttctctgtcaagtatGgtggttgtcactacctctcc	7	16	8	10	0	4	1	2	1	2	0	6	1	4	1	2	2	1	2	2	2	4	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:155226289G>A	ENST00000357232.4	-	16	3989	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1330	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTCAAGTATGGTGGTTGTCA	0.343																																						uc003inw.2																			0		p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3988-3990)acC>acT		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							43	43	43					4																	155226289		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155226289G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3990C>T	4.37:g.155226289G>A							p.T1330T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3990	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1330			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.3990C>T	CCDS3785.1																																																																																				0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155226289	G	A	155226289	2	1	22	1	0	0	0	0	0	0	0	1	4288	1335	47	3		3	DCHS2	4	155226289	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	45654360	155226289	35927987	23	1372											
TKTL2	84076	broad.mit.edu	37	chr4	164393803	164393803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatacactctatgaaacGctcagggtgttctttcctga	12	13	7	9	1	3	2	1	2	2	0	4	2	4	2	1	1	2	2	1	1	5	5	rs180820487	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:164393803G>A	ENST00000280605.3	-	1	1244	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	362						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTATGAAACGCTCAGGGTGT	0.453													G|||	3	0.000599042	0.0023	0	5008	,	,		22378	0		0	False		,,,				2504	0					uc003iqp.4																			0		p.R362H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1084-1086)Cgt>Tgt		Homo sapiens transketolase-like 2 (TKTL2), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	103	103		1084	1.2	1	4		103	0,8600		0,0,4300	no	missense	TKTL2	NM_032136.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	362/627	164393803	1,13005	2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393803G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1084C>T	4.37:g.164393803G>A	ENSP00000280605:p.Arg362Cys						p.R362C	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			0	1245	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	362					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1084C>T	CCDS3805.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.54	3.150795	0.57151	2.27E-4	0.0	ENSG00000151005	ENST00000280605	D	0.94046	-3.34	4.15	1.2	0.21068	Transketolase-like, pyrimidine-binding domain (2);	0.061345	0.64402	D	0.000004	D	0.97380	0.9143	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94772	0.7946	10	0.87932	D	0	-4.2438	6.0514	0.19787	0.0955:0.0:0.5343:0.3703	.	362	Q9H0I9	TKTL2_HUMAN	C	362	ENSP00000280605:R362C	ENSP00000280605:R362C	R	-	1	0	TKTL2	164613253	1.000000	0.71417	0.965000	0.40720	0.887000	0.51463	5.176000	0.65026	0.201000	0.20466	0.655000	0.94253	CGT		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164393803	G	A	164393803	3	1	22	1	0	0	0	0	1	0	0	0	15933	1087	38	1	800	1	TKTL2	4	164393803	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9167514	164393803	26760473	24	1373											
IRF2	3660	broad.mit.edu	37	chr4	185329382	185329382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcatactcaggagaaagAtcacttactccattactaag	15	9	6	11	1	2	2	2	0	0	2	3	3	3	2	2	1	3	1	2	1	5	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:185329382A>G	ENST00000393593.3	-	6	666	c.459T>C	c.(457-459)gaT>gaC	p.D153D	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	153					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGAGAAAGATCACTTACTC	0.388																																						uc003iwf.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(457-459)gaT>gaC		Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.							125	114	118					4																	185329382		2203	4300	6503	SO:0001819	synonymous_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185329382A>G		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.459T>C	4.37:g.185329382A>G							p.D153D	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	5	659	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	153					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	c.459T>C	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	A	8.754	0.922031	0.17982	.	.	ENSG00000168310	ENST00000505067	.	.	.	5.35	3.08	0.35506	.	.	.	.	.	T	0.46132	0.1377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36163	-0.9759	4	.	.	.	-4.9153	2.9023	0.05709	0.6045:0.1811:0.0905:0.1239	.	.	.	.	P	52	.	.	S	-	1	0	IRF2	185566376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.805000	0.27112	0.880000	0.35969	0.379000	0.24179	TCT		0.388	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			G	185329382	A	G	185329382	2	3	22	1	0	0	0	0	0	0	0	1	7828	330	12	4		4	IRF2	4	185329382	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	20935579	185329382	5824894	25	1374											
TERT	7015	broad.mit.edu	37	chr5	1280302	1280302	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcggaacgttctggctcCcacgacgtagtccatgttca	7	11	10	13	4	3	0	1	0	2	0	5	2	5	1	2	2	2	4	2	2	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1280302C>A	ENST00000310581.5	-	4	1978	c.1921G>T	c.(1921-1923)Gga>Tga	p.G641*	TERT_ENST00000508104.2_Nonsense_Mutation_p.G641*|TERT_ENST00000334602.6_Nonsense_Mutation_p.G641*|TERT_ENST00000296820.5_Nonsense_Mutation_p.G641*	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	641	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GTTCTGGCTCCCACGACGTAG	0.557									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1921-1923)Gga>Tga		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							118	115	116					5																	1280302		2203	4300	6503	SO:0001587	stop_gained	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280302C>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1921G>T	5.37:g.1280302C>A	ENSP00000309572:p.Gly641*					TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Nonsense_Mutation_p.G93*	p.G641*	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1979	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		641			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Nonsense_Mutation	SNP	ENST00000310581.5	37	c.1921G>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	37	6.628631	0.97718	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	.	.	.	4.48	3.58	0.41010	.	0.229019	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-3.4559	11.4348	0.50062	0.0:0.8165:0.1835:0.0	.	.	.	.	X	641	.	ENSP00000296820:G641X	G	-	1	0	TERT	1333302	0.052000	0.20516	0.006000	0.13384	0.538000	0.34931	2.617000	0.46385	0.830000	0.34757	0.407000	0.27541	GGA		0.557	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			A	1280302	C	A	1280302	4	1	22	1	0	0	0	0	0	1	0	0	15761	632	22	5	1529	5	TERT	5	1280302	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		1280302	179634958	26	1375											
SLC6A3	6531	broad.mit.edu	37	chr5	1422128	1422128	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggtgcagcacgccacGtctgcagaggggagtcagcg	8	5	18	10	3	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1422128G>A	ENST00000270349.9	-	5	782	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	SLC6A3_ENST00000453492.2_Splice_Site_p.R219C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	219					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCACGCCACGTCTGCAGAGG	0.667																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e5-1		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						57	57	57					5																	1422128		2203	4300	6503	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422128G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.654-1C>T	5.37:g.1422128G>A							p.E218_splice	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	780	-			218					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.654_splice	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259214	0.59321	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.77877	-1.13;-1.13;-1.13	4.4	4.4	0.53042	.	0.143817	0.48767	D	0.000167	D	0.91171	0.7219	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93777	0.7080	10	0.87932	D	0	.	14.8325	0.70159	0.0:0.0:1.0:0.0	.	219	Q01959	SC6A3_HUMAN	C	219;219;145	ENSP00000270349:R219C;ENSP00000399806:R219C;ENSP00000429101:R145C	ENSP00000270349:R219C	R	-	1	0	SLC6A3	1475128	1.000000	0.71417	0.987000	0.45799	0.613000	0.37349	4.782000	0.62396	2.145000	0.66743	0.462000	0.41574	CGT		0.667	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Missense_Mutation	A	1422128	G	A	1422128	5	1	22	1	0	0	0	0	0	0	1	0	14685	1159	40	1	1251	1	SLC6A3	5	1422128	Splice_Site	SNP	G	TCGA-06-0145-01A-01W-0224-08	141826	1422128	179493132	27	1376											
PCDHA1	56147	broad.mit.edu	37	chr5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcaccttcgttggccgcGttgctcaggacctgggactg	5	9	14	13	4	1	0	1	0	0	0	2	2	1	2	3	4	1	4	3	4	0	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:140166017G>A	ENST00000504120.2	+	1	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V48I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627																																						uc003lhb.2																			2	Substitution - Missense(2)	p.V48I(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(142-144)Gtt>Att		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							51	57	55					5																	140166017		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140166017G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.142G>A	5.37:g.140166017G>A	ENSP00000420840:p.Val48Ile					PCDHAC2_uc003lha.2_Missense_Mutation_p.V48I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V48I	p.V48I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	142	+			61			Cadherin 1.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.142G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.126032	0.01770	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.24538	1.85;1.85;1.85	4.53	2.0	0.26442	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43747	N	0.000523	T	0.04318	0.0119	N	0.00151	-1.98	0.22571	N	0.99897	B;B;B	0.19073	0.004;0.033;0.007	B;B;B	0.25759	0.003;0.063;0.002	T	0.43861	-0.9365	10	0.02654	T	1	.	7.1135	0.25403	0.623:0.2973:0.0796:0.0	.	48;48;48	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	48	ENSP00000420840:V48I;ENSP00000378129:V48I;ENSP00000367373:V48I	ENSP00000367373:V48I	V	+	1	0	PCDHA1	140146201	0.011000	0.17503	1.000000	0.80357	0.540000	0.34992	0.440000	0.21592	0.206000	0.20587	-0.247000	0.11927	GTT		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140166017	G	A	140166017	3	1	22	1	0	0	0	0	1	0	0	0	11519	1145	40	1	144	1	PCDHA1	5	140166017	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	138743889	140166017	40749243	28	1377											
FAT2	2196	broad.mit.edu	37	chr5	150924338	150924338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccaagataggggtcaattCggaaatatgtgtaatcttct	12	12	9	8	1	3	1	1	0	2	1	4	2	3	2	2	3	0	1	2	3	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:150924338C>T	ENST00000261800.5	-	9	6362	c.6350G>A	c.(6349-6351)cGa>cAa	p.R2117Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCAATTCGGAAATATGT	0.433																																						uc003lue.4																			0		p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6349-6351)cGa>cAa		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							120	125	123					5																	150924338		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924338C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6350G>A	5.37:g.150924338C>T	ENSP00000261800:p.Arg2117Gln						p.R2117Q	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	6363	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2117			Cadherin 18.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6350G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563310	0.27915	.	.	ENSG00000086570	ENST00000261800	T	0.54675	0.56	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.234724	0.30649	N	0.009163	T	0.53367	0.1792	N	0.26130	0.795	0.36465	D	0.866906	D	0.76494	0.999	D	0.65233	0.933	T	0.49943	-0.8885	10	0.09338	T	0.73	.	12.9496	0.58391	0.0:0.9262:0.0:0.0738	.	2117	Q9NYQ8	FAT2_HUMAN	Q	2117	ENSP00000261800:R2117Q	ENSP00000261800:R2117Q	R	-	2	0	FAT2	150904531	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.855000	0.62925	2.658000	0.90341	0.561000	0.74099	CGA		0.433	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150924338	C	T	150924338	3	4	22	1	0	0	0	0	1	0	0	0	5690	884	31	2	6759	2	FAT2	5	150924338	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	10758321	150924338	29990922	29	1378											
GABRA1	2554	broad.mit.edu	37	chr5	161318009	161318009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgattctctcacaagTctccttctggctcaacagag	10	11	8	12	0	5	2	2	1	3	1	7	3	5	2	1	1	1	1	1	1	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:161318009T>C	ENST00000428797.2	+	9	1164	c.809T>C	c.(808-810)gTc>gCc	p.V270A	GABRA1_ENST00000023897.6_Missense_Mutation_p.V270A|GABRA1_ENST00000444819.1_Missense_Mutation_p.V270A|GABRA1_ENST00000420560.1_Missense_Mutation_p.V270A|GABRA1_ENST00000437025.2_Missense_Mutation_p.V270A|GABRA1_ENST00000393943.4_Missense_Mutation_p.V270A	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	270					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCTCACAAGTCTCCTTCTGG	0.408																																						uc010jiw.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(808-810)gTc>gCc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						134	129	130					5																	161318009		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161318009T>C		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.809T>C	5.37:g.161318009T>C	ENSP00000393097:p.Val270Ala					GABRA1_uc010jix.3_Missense_Mutation_p.V270A|GABRA1_uc010jiy.3_Missense_Mutation_p.V270A|GABRA1_uc003lyx.4_Missense_Mutation_p.V270A|GABRA1_uc010jiz.3_Missense_Mutation_p.V270A|GABRA1_uc010jja.3_Missense_Mutation_p.V270A|GABRA1_uc010jjb.3_Missense_Mutation_p.V270A	p.V270A	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	8	1277	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	270					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.809T>C	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949052	0.92660	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.52	5.52	0.82312	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.85197	2.74	0.80722	D	1	D	0.63880	0.993	P	0.62649	0.905	D	0.95178	0.8296	10	0.87932	D	0	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	270	P14867	GBRA1_HUMAN	A	270	ENSP00000023897:V270A;ENSP00000393097:V270A;ENSP00000377517:V270A;ENSP00000415441:V270A;ENSP00000408041:V270A;ENSP00000414232:V270A	ENSP00000023897:V270A	V	+	2	0	GABRA1	161250587	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.903000	0.87398	2.105000	0.64084	0.528000	0.53228	GTC		0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		C	161318009	T	C	161318009	3	2	22	1	0	0	0	0	1	0	0	0	6160	1667	58	4	835	4	GABRA1	5	161318009	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	10393671	161318009	19597251	30	1379											
TAP1	6890	broad.mit.edu	37	chr6	32815851	32815851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcacctcgccagggcGtagggtgaatgtcagcccct	6	7	13	15	4	2	1	2	1	0	0	3	1	2	1	5	2	1	1	5	2	2	1	rs149070070	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:32815851G>A	ENST00000354258.4	-	8	1926	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TAP1_ENST00000425148.2_Missense_Mutation_p.R328C|PSMB9_ENST00000395330.1_Intron|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	589	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TCGCCAGGGCGTAGGGTGAAT	0.582													G|||	2	0.000399361	0.0015	0	5008	,	,		20992	0		0	False		,,,				2504	0					uc003ocg.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1765-1767)Cgc>Tgc		Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.		G	CYS/ARG	4,3016		0,4,1506	34	25	28		1765	-2.2	0	6	dbSNP_134	28	0,5416		0,0,2708	no	missense	TAP1	NM_000593.5	180	0,4,4214	AA,AG,GG		0.0,0.1325,0.0474	benign	589/809	32815851	4,8432	1510	2708	4218	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32815851G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1765C>T	6.37:g.32815851G>A	ENSP00000346206:p.Arg589Cys					TAP1_uc011dqi.2_Missense_Mutation_p.R328C	p.R589C	NM_000593	NP_000584	Q03518	TAP1_HUMAN			7	1920	-			589			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1765C>T	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390839	0.25118	0.001325	0.0	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.94092	-3.35;-3.35	5.3	-2.18	0.07037	ABC transporter-like (1);	0.916208	0.09206	N	0.833884	T	0.79799	0.4508	L	0.56769	1.78	0.09310	N	1	B	0.23128	0.08	B	0.09377	0.004	T	0.66364	-0.5942	10	0.44086	T	0.13	-16.2647	2.5484	0.04742	0.3515:0.1055:0.4265:0.1166	.	589	Q03518	TAP1_HUMAN	C	589;328	ENSP00000346206:R589C;ENSP00000401919:R328C	ENSP00000346206:R589C	R	-	1	0	TAP1	32923829	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	-0.085000	0.11250	-0.372000	0.07992	-0.156000	0.13503	CGC		0.582	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		A	32815851	G	A	32815851	3	1	22	1	0	0	0	0	1	0	0	0	15547	1145	40	1	677	1	TAP1	6	32815851	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		32815851	138299216	31	1380											
RUNX2	860	broad.mit.edu	37	chr6	45514681	45514681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacctttacttacacccCgccagtcacctcaggcatgt	9	9	6	17	1	2	0	2	0	0	0	2	0	2	0	6	1	3	1	6	1	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:45514681C>T	ENST00000371438.1	+	8	1563	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	RUNX2_ENST00000371436.6_Missense_Mutation_p.P380L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.P470L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P388L|RUNX2_ENST00000371432.3_Missense_Mutation_p.P366L|RUNX2_ENST00000465038.2_Missense_Mutation_p.P402L|RUNX2_ENST00000541979.1_Missense_Mutation_p.P448L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	402	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTACACCCCGCCAGTCACC	0.577																																						uc011dvx.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	GRCh37	CI993086	RUNX2	I		c.(1204-1206)cCg>cTg		Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.							133	109	117					6																	45514681		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514681C>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1205C>T	6.37:g.45514681C>T	ENSP00000360493:p.Pro402Leu					RUNX2_uc011dvy.2_Missense_Mutation_p.P380L|RUNX2_uc003oxt.3_Missense_Mutation_p.P388L	p.P402L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			8	1415	+			402			Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1205C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130571	0.77549	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	M	0.76328	2.33	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.55087	0.725;0.661;0.768	T	0.80551	-0.1332	10	0.87932	D	0	-7.0788	19.922	0.97089	0.0:1.0:0.0:0.0	.	448;402;388	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	L	402;470;448;402;380;388;366	ENSP00000420707:P402L;ENSP00000319087:P470L;ENSP00000446290:P448L;ENSP00000360493:P402L;ENSP00000360491:P380L;ENSP00000352514:P388L;ENSP00000360486:P366L	ENSP00000319087:P470L	P	+	2	0	RUNX2	45622659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.780000	0.95670	0.655000	0.94253	CCG		0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		T	45514681	C	T	45514681	3	4	22	1	0	0	0	0	1	0	0	0	13748	652	23	2	1251	2	RUNX2	6	45514681	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	12698830	45514681	125600386	32	1381											
ZNF292	23036	broad.mit.edu	37	chr6	87969728	87969728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctttgctgcctttacgatAcagcaaaacttgattctcca	10	14	6	11	1	1	1	0	1	1	0	2	2	1	1	2	0	7	3	2	0	4	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:87969728A>G	ENST00000369577.3	+	8	6424	c.6381A>G	c.(6379-6381)atA>atG	p.I2127M	ZNF292_ENST00000339907.4_Missense_Mutation_p.I2122M	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2127						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTACGATACAGCAAAACT	0.438																																						uc003plm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6379-6381)atA>atG		Homo sapiens zinc finger protein 292 (ZNF292), mRNA.							88	89	89					6																	87969728		1911	4116	6027	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969728A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6381A>G	6.37:g.87969728A>G	ENSP00000358590:p.Ile2127Met						p.I2127M	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	7	6422	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2127					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6381A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969089	0.53614	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.43294	0.95;0.95	5.54	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.66939	2.045	0.31965	N	0.607938	D	0.71674	0.998	D	0.71184	0.972	T	0.41070	-0.9529	10	0.46703	T	0.11	.	11.3887	0.49800	0.5898:0.0:0.0:0.4102	.	2127	O60281	ZN292_HUMAN	M	2127;2122	ENSP00000358590:I2127M;ENSP00000342847:I2122M	ENSP00000342847:I2122M	I	+	3	3	ZNF292	88026447	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.048000	0.30379	0.905000	0.36596	0.482000	0.46254	ATA		0.438	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		G	87969728	A	G	87969728	3	3	22	1	0	0	0	0	1	0	0	0	17823	381	14	4	6411	4	ZNF292	6	87969728	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	42455047	87969728	83145339	33	1382											
LAMA2	3908	broad.mit.edu	37	chr6	129371228	129371228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaaaacagcagcaatcCaaaccgtatgtattttagtg	16	10	6	9	1	1	0	1	0	0	0	2	0	2	0	2	0	4	4	2	0	8	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:129371228C>T	ENST00000421865.2	+	2	327	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCAGCAATCCAAACCGTATG	0.438																																						uc021zfb.1																			0		p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(277-279)cCa>cTa		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							145	122	130					6																	129371228		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371228C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.278C>T	6.37:g.129371228C>T	ENSP00000400365:p.Pro93Leu					LAMA2_uc003qbn.3_Missense_Mutation_p.P93L|LAMA2_uc003qbo.3_Missense_Mutation_p.P93L	p.P93L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	1	383	+			93			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.278C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388886	0.61956	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75367	-0.93	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.321128	0.28510	N	0.015095	T	0.65565	0.2703	M	0.72624	2.21	0.53688	D	0.999971	B;B	0.16603	0.018;0.018	B;B	0.19391	0.025;0.025	T	0.68202	-0.5471	10	0.66056	D	0.02	.	14.5193	0.67840	0.0:0.9275:0.0:0.0725	.	93;93	A6NF00;P24043	.;LAMA2_HUMAN	L	93	ENSP00000400365:P93L	ENSP00000346769:P93L	P	+	2	0	LAMA2	129412921	0.034000	0.19679	0.995000	0.50966	0.897000	0.52465	2.214000	0.42853	2.552000	0.86080	0.561000	0.74099	CCA		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129371228	C	T	129371228	3	4	22	1	0	0	0	0	1	0	0	0	8606	594	21	3	284	3	LAMA2	6	129371228	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	41401500	129371228	41743839	34	1383											
GRM1	2911	broad.mit.edu	37	chr6	146720521	146720521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgcccgccaacttcaaCgaggccaaatatatcgcgtt	12	8	8	13	5	1	0	1	0	0	0	2	1	1	0	3	1	4	1	3	1	6	4	rs145874853		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146720521C>T	ENST00000282753.1	+	7	2581	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	GRM1_ENST00000355289.4_Silent_p.N782N|GRM1_ENST00000361719.2_Silent_p.N782N|GRM1_ENST00000507907.1_Silent_p.N782N|GRM1_ENST00000392299.2_Silent_p.N782N|GRM1_ENST00000492807.2_Silent_p.N782N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	782					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCAACTTCAACGAGGCCAAAT	0.502													C|||	1	0.000199681	0	0	5008	,	,		22842	0.001		0	False		,,,				2504	0					uc010khw.1																			0		p.N782I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2344-2346)aaC>aaT		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	C	,	3,4403	6.2+/-15.9	0,3,2200	170	147	155		2346,2346	-10	0.6	6	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	782/1195,782/907	146720521	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720521C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2346C>T	6.37:g.146720521C>T						GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N	p.N782N	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2816	+		Ovarian(120;0.0387)	782					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2346C>T	CCDS5209.1																																																																																				0.502	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720521	C	T	146720521	2	4	22	1	0	0	0	0	0	0	0	1	6796	535	19	1		1	GRM1	6	146720521	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	17349293	146720521	24394546	35	1384											
GRM1	2911	broad.mit.edu	37	chr6	146755247	146755247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatgcccagccgattcGctttagcccgcctggtagcc	6	8	13	14	3	0	0	0	0	0	0	1	3	0	2	5	3	4	2	5	3	2	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146755247G>A	ENST00000282753.1	+	8	3135	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R967H|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	967					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R967H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGCCGATTCGCTTTAGCCCG	0.602																																						uc010khw.1																			1	Substitution - Missense(1)	p.R967H(2)	central_nervous_system(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2899-2901)cGc>cAc		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						94	96	95					6																	146755247		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755247G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2900G>A	6.37:g.146755247G>A	ENSP00000282753:p.Arg967His					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.R967H	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3370	+		Ovarian(120;0.0387)	967					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2900G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547092	0.27652	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87650	-2.28;-2.28	5.51	0.0805	0.14421	.	0.506564	0.21687	N	0.070626	T	0.59390	0.2190	L	0.36672	1.1	0.25616	N	0.986454	B	0.02656	0.0	B	0.01281	0.0	T	0.51639	-0.8680	10	0.40728	T	0.16	.	2.6279	0.04934	0.203:0.2255:0.4558:0.1157	.	967	Q13255	GRM1_HUMAN	H	967	ENSP00000354896:R967H;ENSP00000282753:R967H	ENSP00000282753:R967H	R	+	2	0	GRM1	146796940	0.702000	0.27816	0.114000	0.21550	0.829000	0.46940	1.184000	0.32053	-0.012000	0.14223	0.462000	0.41574	CGC		0.602	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146755247	G	A	146755247	3	1	22	1	0	0	0	0	1	0	0	0	6796	1087	38	1	2995	1	GRM1	6	146755247	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	34726	146755247	24359820	36	1385											
C6orf211	79624	broad.mit.edu	37	chr6	151789616	151789616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaacatctttggtcattgCttagcaattgcaagaaaaca	14	12	8	7	0	2	1	1	0	1	1	2	2	2	2	0	2	5	3	0	2	6	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:151789616C>G	ENST00000367294.3	+	5	956	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C6orf211_ENST00000545879.1_Missense_Mutation_p.L114V	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	233										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTGGTCATTGCTTAGCAATTG	0.328																																						uc003qok.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(697-699)Ctt>Gtt		Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.							88	91	90					6																	151789616		2203	4300	6503	SO:0001583	missense	79624						protein binding	g.chr6:151789616C>G	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.697C>G	6.37:g.151789616C>G	ENSP00000356263:p.Leu233Val					C6orf211_uc011ees.1_Missense_Mutation_p.L114V	p.L233V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	956	+			233					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.697C>G	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462545	0.84425	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.12147	2.71;2.71	5.89	5.89	0.94794	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.55213	1.73	0.80722	D	1	P	0.47191	0.891	P	0.49561	0.615	T	0.00248	-1.1880	10	0.48119	T	0.1	.	20.2469	0.98398	0.0:1.0:0.0:0.0	.	233	Q9H993	CF211_HUMAN	V	233;114	ENSP00000356263:L233V;ENSP00000444121:L114V	ENSP00000356263:L233V	L	+	1	0	C6orf211	151831309	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.950000	0.56676	2.781000	0.95711	0.555000	0.69702	CTT		0.328	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		G	151789616	C	G	151789616	3	3	22	1	0	0	0	0	1	0	0	0	2354	797	28	5	715	5	C6orf211	6	151789616	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	5034369	151789616	19325451	37	1386											
MYCT1	80177	broad.mit.edu	37	chr6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcccacagtctgagccGtcctgactactggtccagta	8	10	8	15	1	1	2	0	2	1	0	4	2	4	2	4	1	2	1	4	1	2	3	rs375330501		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus (GO:0005634)		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532																																						uc003qpc.4																			1	Substitution - Missense(1)	p.R204H(2)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(610-612)cGt>cAt		Homo sapiens myc target 1 (MYCT1), mRNA.		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111	106	108		611	5.8	0.5	6		108	0,8600		0,0,4300	no	missense	MYCT1	NM_025107.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	204/236	153043291	3,13003	2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043291G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.611G>A	6.37:g.153043291G>A	ENSP00000356214:p.Arg204His						p.R204H	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	619	+		Ovarian(120;0.0654)	204					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.611G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112581|3.112581	0.56398|0.56398	6.81E-4|6.81E-4	0.0|0.0	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.53857|.	0.6|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.166647|.	0.52532|.	D|.	0.000078|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.32939|.	0.391;0.391|.	B;B|.	0.24541|.	0.054;0.037|.	T|T	0.53027|0.53027	-0.8496|-0.8496	10|5	0.59425|.	D|.	0.04|.	-15.1274|-15.1274	14.2344|14.2344	0.65916|0.65916	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	156;204|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	204|185	ENSP00000356214:R204H|.	ENSP00000356214:R204H|.	R|V	+|+	2|1	0|0	MYCT1|MYCT1	153084984|153084984	0.837000|0.837000	0.29446|0.29446	0.470000|0.470000	0.27216|0.27216	0.982000|0.982000	0.71751|0.71751	1.575000|1.575000	0.36493|0.36493	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.532	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		A	153043291	G	A	153043291	3	1	22	1	0	0	0	0	1	0	0	0	10022	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	1253675	153043291	18071776	38	1387											
HDAC9	9734	broad.mit.edu	37	chr7	18788727	18788727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatacagagtatctggtcacGactgcaagaaactgggctgc	13	8	11	9	1	2	2	1	0	1	2	2	3	2	2	0	2	4	3	0	2	5	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:18788727G>A	ENST00000432645.2	+	13	2000	c.2000G>A	c.(1999-2001)cGa>cAa	p.R667Q	HDAC9_ENST00000406451.4_Missense_Mutation_p.R667Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R670Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R626Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	667	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R670L(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438																																						uc003sui.3																			2	Substitution - Missense(2)	p.R670L(3)	lung(2)	breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2008-2010)cGa>cAa		Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	Valproic Acid(DB00313)						78	77	77					7																	18788727		1919	4151	6070	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788727G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2000G>A	7.37:g.18788727G>A	ENSP00000410337:p.Arg667Gln					HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	p.R670Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN			12	2050	+	all_lung(11;0.187)		667			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2009G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421884	0.96111	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.52532	D	0.000072	T	0.79656	0.4483	L	0.55743	1.74	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.569;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D;D	0.81914	0.391;0.994;0.991;0.991;0.995;0.991;0.995	T	0.80719	-0.1257	10	0.87932	D	0	-8.3851	19.1356	0.93426	0.0:0.0:1.0:0.0	.	667;579;626;670;667;667;645	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	Q	667;626;667;670;579	ENSP00000384657:R667Q;ENSP00000383912:R626Q;ENSP00000410337:R667Q;ENSP00000408617:R670Q	ENSP00000339165:R579Q	R	+	2	0	HDAC9	18755252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.756000	0.94617	0.563000	0.77884	CGA		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			A	18788727	G	A	18788727	3	1	22	1	0	0	0	0	1	0	0	0	7014	1058	37	2	2110	2	HDAC9	7	18788727	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		18788727	140349936	39	1388											
ZPBP	11055	broad.mit.edu	37	chr7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatattttagttgaagacGtttaacaatttcttccacag	13	15	6	7	1	1	2	0	1	1	1	2	2	2	2	1	0	2	3	1	0	5	8	rs200427468		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:50097612G>A	ENST00000046087.2	-	4	529	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_ENST00000419417.1_Missense_Mutation_p.R153C|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	154					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													G|||	1	0.000199681	0	0	5008	,	,		18844	0		0	False		,,,				2504	0.001					uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(460-462)Cgt>Tgt		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77	78	78		457,460	4.5	0.6	7		78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	ZPBP	NM_001159878.1,NM_007009.2	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/351,154/352	50097612	1,13003	2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097612G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.460C>T	7.37:g.50097612G>A	ENSP00000046087:p.Arg154Cys					ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	p.R154C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	530	-	Glioma(55;0.08)|all_neural(89;0.245)		154					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.460C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202157	0.38905	0.0	1.16E-4	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.56444	0.46;0.46	5.66	4.51	0.55191	Immunoglobulin-like (1);	0.542661	0.18129	N	0.150789	T	0.46308	0.1386	N	0.22421	0.69	0.40301	D	0.978604	D;D	0.65815	0.995;0.995	P;P	0.51229	0.663;0.663	T	0.30880	-0.9963	9	.	.	.	-8.2369	10.6887	0.45858	0.0:0.0:0.169:0.831	.	153;154	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	154;153	ENSP00000046087:R154C;ENSP00000402071:R153C	.	R	-	1	0	ZPBP	50068158	0.993000	0.37304	0.619000	0.29118	0.297000	0.27493	2.770000	0.47662	0.971000	0.38288	-0.467000	0.05162	CGT		0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		A	50097612	G	A	50097612	3	1	22	1	0	0	0	0	1	0	0	0	18216	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	31308885	50097612	109041051	40	1389											
POM121L12	285877	broad.mit.edu	37	chr7	53103630	53103630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggaccccgccaagcCgcagcgggtggtctccgagg	7	3	14	17	4	1	0	0	0	1	0	2	2	1	1	6	4	2	1	6	4	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:53103630C>T	ENST00000408890.4	+	1	282	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	89										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCAAGCCGCAGCGGGTG	0.692																																						uc003tpz.3																			0		p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(265-267)cCg>cTg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							14	17	16					7																	53103630		1850	4063	5913	SO:0001583	missense	285877							g.chr7:53103630C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.266C>T	7.37:g.53103630C>T	ENSP00000386133:p.Pro89Leu						p.P89L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	282	+			89					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.266C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	c	2.265	-0.368320	0.05069	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	2.69	-0.845	0.10737	.	.	.	.	.	T	0.14184	0.0343	L	0.34521	1.04	0.09310	N	1	P	0.47484	0.896	B	0.38194	0.267	T	0.14392	-1.0474	9	0.56958	D	0.05	.	2.6987	0.05142	0.1757:0.5251:0.1734:0.1257	.	89	Q8N7R1	P1L12_HUMAN	L	89	ENSP00000386133:P89L	ENSP00000386133:P89L	P	+	2	0	POM121L12	53071124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.261000	0.09405	-2.904000	0.00092	CCG		0.692	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103630	C	T	53103630	3	4	22	1	0	0	0	0	1	0	0	0	12241	652	23	2	268	2	POM121L12	7	53103630	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	3006018	53103630	106035033	41	1390											
SEMA3C	10512	broad.mit.edu	37	chr7	80387693	80387693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaatggccatcccaggCgcaataagggtcccgcgcca	11	4	12	14	3	0	0	0	0	0	0	2	1	2	1	4	4	0	1	4	4	3	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:80387693C>T	ENST00000265361.3	-	15	2158	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A533T|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A551T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	533					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATCCCAGGCGCAATAAGGG	0.537																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1651-1653)Gcc>Acc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							117	110	113					7																	80387693		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387693C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1597G>A	7.37:g.80387693C>T	ENSP00000265361:p.Ala533Thr					SEMA3C_uc003uhj.3_Missense_Mutation_p.A533T	p.A551T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1730	-			533					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1651G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727780	0.96847	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.28069	1.63;1.63;1.63	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.67106	-0.5754	10	0.66056	D	0.02	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	551;533	F5H1Z7;Q99985	.;SEM3C_HUMAN	T	533;533;551	ENSP00000265361:A533T;ENSP00000411193:A533T;ENSP00000445649:A551T	ENSP00000265361:A533T	A	-	1	0	SEMA3C	80225629	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	7.776000	0.85560	2.729000	0.93468	0.467000	0.42956	GCC		0.537	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		T	80387693	C	T	80387693	3	4	22	1	0	0	0	0	1	0	0	0	14026	768	27	1	674	1	SEMA3C	7	80387693	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	27284063	80387693	78750970	42	1391											
PDK4	5166	broad.mit.edu	37	chr7	95216404	95216404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtactttgcatacagaCgagaaattggcaagccgtaa	16	8	10	7	2	0	2	0	0	0	2	0	4	0	2	1	1	4	4	1	1	6	5	rs530118760	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:95216404C>T	ENST00000005178.5	-	10	1210	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	338	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGCATACAGACGAGAAATTGG	0.378													C|||	2	0.000399361	0	0.0029	5008	,	,		16194	0		0	False		,,,				2504	0					uc003uoa.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1012-1014)cGt>cAt		Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.							65	65	65					7																	95216404		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95216404C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.1013G>A	7.37:g.95216404C>T	ENSP00000005178:p.Arg338His					PDK4_uc003unz.3_Missense_Mutation_p.R126H	p.R338H	NM_002612	NP_002603	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1333	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		338			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.1013G>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228658	0.95173	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.57907	0.37	5.32	5.32	0.75619	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.89163	3.01	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.80696	-0.1267	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	338	Q16654	PDK4_HUMAN	H	338;302	ENSP00000005178:R338H	ENSP00000005178:R338H	R	-	2	0	PDK4	95054340	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGT		0.378	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		T	95216404	C	T	95216404	3	4	22	1	0	0	0	0	1	0	0	0	11678	536	19	1	230	1	PDK4	7	95216404	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	14828711	95216404	63922259	43	1392											
KEL	3792	broad.mit.edu	37	chr7	142650962	142650962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattccacgtcatggaccaCgagggactgagaagggctca	12	7	12	10	2	2	1	2	1	0	1	3	5	3	3	2	3	0	1	2	3	2	2	rs374644780		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:142650962C>T	ENST00000355265.2	-	9	1480	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	336					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCATGGACCACGAGGGACTGA	0.537																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1006-1008)Gtg>Atg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							176	174	175					7																	142650962		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650962C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1006G>A	7.37:g.142650962C>T	ENSP00000347409:p.Val336Met						p.V336M	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1216	-	Melanoma(164;0.059)		336					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1006G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335237	0.24253	.	.	ENSG00000197993	ENST00000355265	T	0.76578	-1.03	5.78	-4.33	0.03677	Peptidase M13 (1);	2.972800	0.00987	N	0.003479	T	0.63414	0.2509	L	0.31065	0.9	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.49725	-0.8909	10	0.66056	D	0.02	-0.0474	2.8257	0.05484	0.1289:0.2221:0.127:0.522	.	336	P23276	KELL_HUMAN	M	336	ENSP00000347409:V336M	ENSP00000347409:V336M	V	-	1	0	KEL	142361084	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-1.783000	0.01770	-0.685000	0.05177	-0.702000	0.03669	GTG		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142650962	C	T	142650962	3	4	22	1	0	0	0	0	1	0	0	0	8142	536	19	1	1236	1	KEL	7	142650962	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	47434558	142650962	16487701	44	1393											
TRPA1	8989	broad.mit.edu	37	chr8	72938268	72938268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccactttgcgtagaaacCaaagtggcagcttcttctct	10	12	8	11	1	2	1	0	0	2	1	4	2	3	1	2	1	3	3	2	1	3	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr8:72938268C>A	ENST00000262209.4	-	25	3185	c.2978G>T	c.(2977-2979)tGg>tTg	p.W993L	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	993					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.W993S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCGTAGAAACCAAAGTGGCAG	0.363																																						uc003xza.3																			1	Substitution - Missense(1)	p.W993S(2)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2977-2979)tGg>tTg		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						116	107	110					8																	72938268		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72938268C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2978G>T	8.37:g.72938268C>A	ENSP00000262209:p.Trp993Leu					LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.W993L	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		24	3153	-			993					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2978G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536779	0.65085	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.41758	0.99;1.07	5.79	4.89	0.63831	.	0.155196	0.64402	D	0.000007	T	0.52256	0.1723	M	0.80183	2.485	0.54753	D	0.999984	D	0.53312	0.959	P	0.48552	0.581	T	0.55036	-0.8203	10	0.27082	T	0.32	-0.1333	13.8543	0.63517	0.0:0.9244:0.0:0.0756	.	993	O75762	TRPA1_HUMAN	L	845;993	ENSP00000428151:W845L;ENSP00000262209:W993L	ENSP00000262209:W993L	W	-	2	0	TRPA1	73100822	1.000000	0.71417	0.989000	0.46669	0.644000	0.38419	4.677000	0.61634	1.411000	0.46957	0.555000	0.69702	TGG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		A	72938268	C	A	72938268	3	1	22	1	0	0	0	0	1	0	0	0	16574	595	21	5	393	5	TRPA1	8	72938268	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		72938268	73425754	45	1394											
DOCK8	81704	broad.mit.edu	37	chr9	286581	286581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatgacgacttggacGtggtgttcacgccaaaggaa	11	9	12	9	3	2	2	2	2	0	0	2	5	2	4	1	3	0	1	1	3	2	2	rs375686155		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:286581G>A	ENST00000453981.1	+	3	389	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	DOCK8_ENST00000469391.1_Missense_Mutation_p.V25M|DOCK8_ENST00000432829.2_Missense_Mutation_p.V25M			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V25M(1)|p.V25L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACTTGGACGTGGTGTTCAC	0.498																																						uc003zgf.2																			2	Substitution - Missense(2)	p.V25M(1)|p.V25L(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(277-279)Gtg>Atg		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							139	121	127					9																	286581		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286581G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.277G>A	9.37:g.286581G>A	ENSP00000408464:p.Val93Met					DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc022bcu.1_Missense_Mutation_p.V25M|DOCK8_uc010mgv.3_Missense_Mutation_p.V25M|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Missense_Mutation_p.V25M|DOCK8_uc003zgg.3_Missense_Mutation_p.V25M|DOCK8_uc022bct.1_Non-coding_Transcript	p.V93M	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	2	389	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	93					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.277G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413955	0.83449	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.47	5.47	0.80525	.	0.213930	0.40640	N	0.001041	T	0.64371	0.2592	M	0.68952	2.095	0.50813	D	0.999896	D;D;D	0.89917	0.991;1.0;0.971	P;D;P	0.77557	0.837;0.99;0.746	T	0.66176	-0.5989	10	0.62326	D	0.03	.	10.8737	0.46899	0.1453:0.0:0.8547:0.0	.	25;93;93	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	M	93;93;25;25;25;25	ENSP00000408464:V93M;ENSP00000394888:V25M;ENSP00000417082:V25M;ENSP00000418318:V25M;ENSP00000419438:V25M	ENSP00000287364:V93M	V	+	1	0	DOCK8	276581	1.000000	0.71417	0.854000	0.33618	0.943000	0.58893	3.147000	0.50639	2.574000	0.86865	0.563000	0.77884	GTG		0.498	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	286581	G	A	286581	3	1	22	1	0	0	0	0	1	0	0	0	4693	1145	40	1	287	1	DOCK8	9	286581	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		286581	140926850	46	1395											
PCDH15	65217	broad.mit.edu	37	chr10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatccctttgtatattcGtttactaaagacaggaggat	12	13	7	9	1	0	1	0	0	0	1	2	3	1	3	2	2	1	2	2	2	5	7			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:55755492G>A	ENST00000320301.6	-	21	3179	c.2785C>T	c.(2785-2787)Cga>Tga	p.R929*	PCDH15_ENST00000373955.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R907*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R892*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R858*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R934*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.R936*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R936*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.R540*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	929	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs2135720). {ECO:0000269|PubMed:11487575, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:22815625}.		equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)																												uc010qhy.1																			0		p.G933G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237	GRCh37	CM050735	PCDH15	M		c.(2800-2802)Cga>Tga		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							123	110	114					10																	55755492		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55755492G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2785C>T	10.37:g.55755492G>A	ENSP00000322604:p.Arg929*	HNSCC(58;0.16)				PCDH15_uc010qhq.2_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R929*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R936*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.R929*	p.R934*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN			21	3195	-		Melanoma(3;0.117)|Lung SC(717;0.238)	929			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.2800C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	39	7.843184	0.98519	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.93	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6611	0.45702	0.0:0.127:0.6103:0.2626	.	.	.	.	X	936;934;929;929;540;936;892;929;907;929;929;934;858;929	.	ENSP00000322604:R929X	R	-	1	2	PCDH15	55425498	0.008000	0.16893	0.987000	0.45799	0.137000	0.21094	1.293000	0.33353	1.500000	0.48636	-0.152000	0.13540	CGA		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55755492	G	A	55755492	4	1	22	1	0	0	0	0	0	1	0	0	11511	1153	40	1	4753	1	PCDH15	10	55755492	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		55755492	79779255	47	1396											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665247	90665247	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgtttccctaagcccAgaagagcgagtccgtgccct	10	8	10	13	2	0	3	0	0	0	3	2	4	2	3	4	0	3	1	4	0	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:90665247A>T	ENST00000371926.3	+	3	1036	c.78A>T	c.(76-78)ccA>ccT	p.P26P	STAMBPL1_ENST00000371927.3_Silent_p.P26P|STAMBPL1_ENST00000371924.1_Silent_p.P26P	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	26						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCCTAAGCCCAGAAGAGCGAG	0.418																																						uc001kfk.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(76-78)ccA>ccT		Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.							138	127	131					10																	90665247		2203	4300	6503	SO:0001819	synonymous_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665247A>T	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.78A>T	10.37:g.90665247A>T						STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.P26P|STAMBPL1_uc001kfm.3_5'Flank	p.P26P	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	2	501	+		Colorectal(252;0.0381)	26					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	ENST00000371926.3	37	c.78A>T	CCDS7391.1																																																																																				0.418	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		T	90665247	A	T	90665247	2	4	22	1	0	0	0	0	0	0	0	1	15250	175	7	5		5	STAMBPL1	10	90665247	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	34909755	90665247	44869500	48	1397											
OR51S1	119692	broad.mit.edu	37	chr11	4870156	4870156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacagtgtgagcaccagCaagggcgatgcccagcagtg	11	4	16	10	1	0	1	0	1	0	0	0	3	0	2	2	2	4	3	2	2	1	0	rs143553379		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:4870156C>T	ENST00000322101.2	-	1	358	c.283G>A	c.(283-285)Gct>Act	p.A95T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCACCAGCAAGGGCGATG	0.537																																						uc010qyo.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(283-285)Gct>Act		Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.		C	THR/ALA	2,4400	4.2+/-10.8	0,2,2199	117	97	104		283	0.1	0	11	dbSNP_134	104	0,8596		0,0,4298	no	missense	OR51S1	NM_001004758.1	58	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	95/324	4870156	2,12996	2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870156C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.283G>A	11.37:g.4870156C>T	ENSP00000322754:p.Ala95Thr						p.A95T	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	283	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	95					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.283G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	5.700	0.313728	0.10789	4.54E-4	0.0	ENSG00000176922	ENST00000322101	T	0.03004	4.08	4.65	0.0889	0.14456	GPCR, rhodopsin-like superfamily (1);	0.606678	0.13779	N	0.363364	T	0.02342	0.0072	N	0.15975	0.35	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.42649	-0.9439	10	0.72032	D	0.01	-0.4404	5.7556	0.18170	0.3442:0.4887:0.0:0.1671	.	95	Q8NGJ8	O51S1_HUMAN	T	95	ENSP00000322754:A95T	ENSP00000322754:A95T	A	-	1	0	OR51S1	4826732	0.000000	0.05858	0.017000	0.16124	0.084000	0.17831	-0.742000	0.04850	0.175000	0.19841	0.563000	0.77884	GCT		0.537	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		T	4870156	C	T	4870156	3	4	22	1	0	0	0	0	1	0	0	0	11105	710	25	3	691	3	OR51S1	11	4870156	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		4870156	130136360	49	1398											
C11orf16	56673	broad.mit.edu	37	chr11	8953775	8953775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggtggagcagcaccGtcccagccaggggccttcag	8	5	13	15	1	1	0	1	0	0	0	3	1	3	1	5	4	3	2	5	4	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:8953775G>A	ENST00000326053.5	-	2	187	c.81C>T	c.(79-81)gaC>gaT	p.D27D	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Silent_p.D27D	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	27										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GAGCAGCACCGTCCCAGCCAG	0.622																																						uc001mhb.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(79-81)gaC>gaT		Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.							60	49	53					11																	8953775		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8953775G>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.81C>T	11.37:g.8953775G>A						C11orf16_uc001mhc.4_Silent_p.D27D	p.D27D	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	1	205	-			27					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.81C>T	CCDS7794.1																																																																																				0.622	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		A	8953775	G	A	8953775	2	1	22	1	0	0	0	0	0	0	0	1	1631	1136	40	1		1	C11orf16	11	8953775	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	4083619	8953775	126052741	50	1399											
FOLH1	2346	broad.mit.edu	37	chr11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaacaccatccctcctcGaacctgggccacagtgaggt	10	7	8	16	1	1	1	1	1	0	0	4	2	3	1	5	2	2	0	5	2	2	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:49175930G>A	ENST00000256999.2	-	16	1998	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_ENST00000343844.4_Nonsense_Mutation_p.R272*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.R580*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.R565*|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.R565*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATCCCTCCTCGAACCTGGGCC	0.413																																						uc001ngy.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1738-1740)Cga>Tga		Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	Capromab(DB00089)|L-Glutamic Acid(DB00142)						76	64	68					11																	49175930		2200	4278	6478	SO:0001587	stop_gained	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175930G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1738C>T	11.37:g.49175930G>A	ENSP00000256999:p.Arg580*					FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	p.R580*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN			15	1999	-			580			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	c.1738C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351063	0.98228	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.124	0.59342	0.0:0.0:1.0:0.0	.	.	.	.	X	580;580;565;272;565	.	ENSP00000256999:R580X	R	-	1	2	FOLH1	49132506	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.373000	0.66162	2.044000	0.60594	0.404000	0.27445	CGA		0.413	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		A	49175930	G	A	49175930	4	1	22	1	0	0	0	0	0	1	0	0	5979	1066	37	2	530	2	FOLH1	11	49175930	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	40222155	49175930	85830586	51	1400											
OR5D18	219438	broad.mit.edu	37	chr11	55587854	55587854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccacctgactgccatcaCcatcttccatggcaccatcc	8	9	4	20	0	2	1	1	1	1	0	5	1	5	1	7	1	1	1	7	1	0	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:55587854C>A	ENST00000333976.4	+	1	769	c.749C>A	c.(748-750)aCc>aAc	p.T250N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTGCCATCACCATCTTCCAT	0.517																																						uc010rin.2																			0		p.I249I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(748-750)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							120	105	110					11																	55587854		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587854C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.749C>A	11.37:g.55587854C>A	ENSP00000335025:p.Thr250Asn						p.T250N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	749	+		all_epithelial(135;0.208)	250					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.749C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	15.45	2.836688	0.50951	.	.	ENSG00000186119	ENST00000333976	T	0.39997	1.05	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.600012	0.13977	N	0.349746	T	0.70159	0.3192	M	0.92077	3.27	0.09310	N	1	P	0.49696	0.927	P	0.62649	0.905	T	0.64571	-0.6376	10	0.72032	D	0.01	-17.8235	12.7032	0.57045	0.0:0.8339:0.1661:0.0	.	250	Q8NGL1	OR5DI_HUMAN	N	250	ENSP00000335025:T250N	ENSP00000335025:T250N	T	+	2	0	OR5D18	55344430	0.000000	0.05858	0.998000	0.56505	0.857000	0.48899	-0.644000	0.05415	2.407000	0.81776	0.573000	0.79308	ACC		0.517	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		A	55587854	C	A	55587854	3	1	22	1	0	0	0	0	1	0	0	0	11157	507	18	5	751	5	OR5D18	11	55587854	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	6411924	55587854	79418662	52	1401											
MS4A7	58475	broad.mit.edu	37	chr11	60150731	60150731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaagattacctgcagaaCgggctgccaacagaaaccac	16	4	9	12	2	0	3	0	0	0	3	0	4	0	3	3	1	7	2	3	1	6	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:60150731C>T	ENST00000300184.3	+	2	313	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Silent_p.N39N|MS4A7_ENST00000534016.1_Silent_p.N39N|MS4A7_ENST00000530234.2_Silent_p.N39N	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	39						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438																																						uc001npe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(115-117)aaC>aaT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.							90	76	81					11																	60150731		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60150731C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.117C>T	11.37:g.60150731C>T						MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			1	262	+			39					A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.117C>T	CCDS7985.1																																																																																				0.438	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			T	60150731	C	T	60150731	2	4	22	1	0	0	0	0	0	0	0	1	9866	535	19	1		1	MS4A7	11	60150731	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	4562877	60150731	74855785	53	1402											
FAU	740	broad.mit.edu	37	chr11	64889007	64889007	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacttccagggtagtcAgggcctccaccccgcactgg	6	8	11	16	1	1	0	1	0	0	0	3	0	3	0	5	3	2	3	5	3	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:64889007A>G	ENST00000279242.2	+	0	0				FAU_ENST00000529639.1_Missense_Mutation_p.L62P|FAU_ENST00000279259.3_Missense_Mutation_p.L62P|FAU_ENST00000525297.1_Missense_Mutation_p.L27P|FAU_ENST00000531743.1_Missense_Mutation_p.L62P|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000529259.1_Missense_Mutation_p.L62P|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000527548.1_Missense_Mutation_p.L62P|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000434372.2_Missense_Mutation_p.L62P	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CAGGGTAGTCAGGGCCTCCAC	0.612																																						uc001ocx.3																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(184-186)cTg>cCg		Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.							69	67	67					11																	64889007		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64889007A>G		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889007A>G	Exception_encountered					MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	p.L62P	NM_001997	NP_001988	P35544	UBIM_HUMAN			2	304	-			62					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.185T>C	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218091	0.79352	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;0.88;-0.75;-0.75;-0.75;-0.75;-0.75	6.17	6.17	0.99709	Ubiquitin supergroup (1);Ubiquitin (2);	0.200613	0.43747	D	0.000531	D	0.87354	0.6156	M	0.86097	2.795	0.58432	D	0.999997	D;D	0.89917	0.993;1.0	D;D	0.97110	0.934;1.0	D	0.88626	0.3166	10	0.59425	D	0.04	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	62;62	E9PMS9;P35544	.;UBIM_HUMAN	P	62;62;27;62;62;62;62;62	ENSP00000435370:L62P;ENSP00000431822:L62P;ENSP00000436110:L27P;ENSP00000434440:L62P;ENSP00000279259:L62P;ENSP00000434680:L62P;ENSP00000433139:L62P;ENSP00000413848:L62P	ENSP00000279259:L62P	L	-	2	0	FAU	64645583	0.999000	0.42202	1.000000	0.80357	0.890000	0.51754	2.855000	0.48333	2.371000	0.80710	0.533000	0.62120	CTG		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		G	64889007	A	G	64889007	1	3	22	0	1	0	0	0	0	0	0	0	5694	188	7	4		4	FAU	11	64889007	5'Flank	SNP	A	TCGA-06-0145-01A-01W-0224-08	4738276	64889007	70117509	54	1403											
FOLH1B	219595	broad.mit.edu	37	chr11	89424164	89424164	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcactgtggcccaggttCgaggagggatggtgtttgag	7	10	16	8	1	1	1	1	1	0	0	2	4	1	3	2	5	0	2	2	5	0	2	rs371957815		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:89424164C>T	ENST00000532352.1	+	0	1627							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGCCCAGGTTCGAGGAGGGAT	0.408																																						uc001pda.3																			0		p.V271F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						c.(814-816)Cga>Tga		Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.		C	stop/ARG	1,4399	2.1+/-5.4	0,1,2199	45	46	46		814	3.2	1	11		46	0,8554		0,0,4277	no	stop-gained	FOLH1B	NM_153696.2		0,1,6476	TT,TC,CC		0.0,0.0227,0.0077		272/443	89424164	1,12953	2200	4277	6477			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424164C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424164C>T							p.R272*	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			10	1340	+			272						Nonsense_Mutation	SNP	ENST00000532352.1	37	c.814C>T																																																																																					0.408	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		T	89424164	C	T	89424164	1	4	22	0	1	0	0	0	0	0	0	0	5980	876	31	2		2	FOLH1B	11	89424164	RNA	SNP	C	TCGA-06-0145-01A-01W-0224-08	24535157	89424164	45582352	55	1404											
MPZL2	10205	broad.mit.edu	37	chr11	118130818	118130818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcccatcgctttttccGgtaatgctggaagaggacca	8	11	11	11	3	0	1	0	0	0	1	3	3	1	3	3	4	1	3	3	4	2	4	rs562108254	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:118130818G>A	ENST00000278937.2	-	4	663	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.R179W	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CGCTTTTTCCGGTAATGCTGG	0.478													G|||	2	0.000399361	0	0.0029	5008	,	,		16371	0		0	False		,,,				2504	0					uc001psn.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(535-537)Cgg>Tgg		Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.							219	220	220					11																	118130818		2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118130818G>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.535C>T	11.37:g.118130818G>A	ENSP00000278937:p.Arg179Trp					MPZL2_uc001pso.3_Missense_Mutation_p.R179W	p.R179W	NM_005797	NP_658911	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	918	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.535C>T	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637877	0.67130	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97553	-4.43;-4.43	5.81	4.9	0.64082	.	0.283692	0.38720	N	0.001590	D	0.91938	0.7447	L	0.27053	0.805	0.42193	D	0.991734	P	0.47910	0.902	B	0.31101	0.124	D	0.91522	0.5235	10	0.38643	T	0.18	-19.4703	15.0823	0.72125	0.068:0.0:0.932:0.0	.	179	O60487	MPZL2_HUMAN	W	179	ENSP00000278937:R179W;ENSP00000408362:R179W	ENSP00000278937:R179W	R	-	1	2	MPZL2	117636028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.724000	0.68500	1.451000	0.47736	0.655000	0.94253	CGG		0.478	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		A	118130818	G	A	118130818	3	1	22	1	0	0	0	0	1	0	0	0	9750	1115	39	2	120	2	MPZL2	11	118130818	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	28706654	118130818	16875698	56	1405											
CHEK1	1111	broad.mit.edu	37	chr11	125503112	125503112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttcggtataataatcGtgagcgtttgttgaacaaga	13	14	10	4	3	0	3	0	2	0	1	2	3	0	3	0	1	2	4	0	1	6	7			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:125503112G>A	ENST00000534070.1	+	6	734	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CHEK1_ENST00000427383.2_Missense_Mutation_p.R176H|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160H|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160H|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160H|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160H|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160H	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.R160H(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TATAATAATCGTGAGCGTTTG	0.363								Other conserved DNA damage response genes																														uc009zbo.3																			1	Substitution - Missense(1)	p.R160H(2)	central_nervous_system(1)	central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(478-480)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.							108	107	108					11																	125503112		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125503112G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.479G>A	11.37:g.125503112G>A	ENSP00000435371:p.Arg160His					CHEK1_uc010sbi.2_Missense_Mutation_p.R160H|CHEK1_uc010sbh.2_Missense_Mutation_p.R176H|CHEK1_uc001qcf.4_Missense_Mutation_p.R160H|CHEK1_uc009zbp.3_Missense_Mutation_p.R160H|CHEK1_uc001qcg.4_Missense_Mutation_p.R160H	p.R160H	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	5	1376	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	160			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.479G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956158	0.92726	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.73	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064053	0.64402	D	0.000008	T	0.61837	0.2379	L	0.36672	1.1	0.54753	D	0.999984	D;D;D;D	0.65815	0.981;0.995;0.992;0.992	P;P;P;P	0.53760	0.573;0.734;0.699;0.699	T	0.64210	-0.6461	10	0.59425	D	0.04	-9.9688	10.5261	0.44950	0.1491:0.0:0.8509:0.0	.	160;176;160;160	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	H	160;176;160;160;160;160;160;160;81;160	ENSP00000388648:R160H;ENSP00000391090:R176H;ENSP00000412504:R160H;ENSP00000442317:R160H;ENSP00000431525:R160H;ENSP00000431815:R160H;ENSP00000435371:R160H;ENSP00000432890:R160H;ENSP00000434646:R81H;ENSP00000278916:R160H	ENSP00000278916:R160H	R	+	2	0	CHEK1	125008322	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	6.485000	0.73625	1.432000	0.47375	0.585000	0.79938	CGT		0.363	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		A	125503112	G	A	125503112	3	1	22	1	0	0	0	0	1	0	0	0	3334	1145	40	1	497	1	CHEK1	11	125503112	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	7372294	125503112	9503404	57	1406											
TEAD4	7004	broad.mit.edu	37	chr12	3128315	3128315	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcaaacctatgctgtcCagcctccgctgcctctgcca	7	9	7	18	1	2	0	1	0	1	0	4	0	4	0	6	0	6	3	6	0	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:3128315C>T	ENST00000397122.2	+	6	460	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	TEAD4_ENST00000359864.2_Nonsense_Mutation_p.Q188*|TEAD4_ENST00000358409.2_Nonsense_Mutation_p.Q145*	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	188					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTATGCTGTCCAGCCTCCGCT	0.677																																						uc010sej.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(562-564)Cag>Tag		Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.							91	74	80					12																	3128315		2203	4300	6503	SO:0001587	stop_gained	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3128315C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.175C>T	12.37:g.3128315C>T	ENSP00000380311:p.Gln59*					TEAD4_uc010sek.2_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.3_Nonsense_Mutation_p.Q59*	p.Q188*	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		7	854	+	Ovarian(42;0.211)		188					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Nonsense_Mutation	SNP	ENST00000397122.2	37	c.562C>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.498148|4.498148	0.85069|0.85069	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000397122	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.067594	.|0.64402	.|D	.|0.000010	T|.	0.61502|.	0.2352|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59139|.	-0.7510|.	3|.	.|0.19147	.|T	.|0.46	-22.4211|-22.4211	17.2947|17.2947	0.87167|0.87167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	110|145;188;59	.|.	.|ENSP00000351184:Q145X	P|Q	+|+	2|1	0|0	TEAD4|TEAD4	2998576|2998576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.820000|0.820000	0.46376|0.46376	6.968000|6.968000	0.76086|0.76086	2.313000|2.313000	0.78055|0.78055	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.677	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		T	3128315	C	T	3128315	4	4	22	1	0	0	0	0	0	1	0	0	15738	595	21	3	584	3	TEAD4	12	3128315	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		3128315	130723580	58	1407											
TAS2R30	259293	broad.mit.edu	37	chr12	11286159	11286159	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaggaggtcacagtttGcaaagcttttatgtggacct	13	11	11	6	0	1	1	1	0	0	1	1	3	1	3	1	3	2	3	1	3	4	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:11286159G>A	ENST00000539585.1	-	1	1084	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	229					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTCACAGTTTGCAAAGCTTTT	0.418																																						uc009zhs.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(685-687)Caa>Taa		Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.							192	201	198					12																	11286159		2203	4300	6503	SO:0001587	stop_gained	259293							g.chr12:11286159G>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.685C>T	12.37:g.11286159G>A	ENSP00000444736:p.Gln229*					PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.Q229*	NM_001097643	NP_001091112					0	685	-								Q645X7	Nonsense_Mutation	SNP	ENST00000539585.1	37	c.685C>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	34	5.359559	0.95854	.	.	ENSG00000256188	ENST00000539585	.	.	.	2.6	-1.07	0.09968	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	2.9665	0.05909	0.1571:0.0:0.3715:0.4714	.	.	.	.	X	229	.	ENSP00000444736:Q229X	Q	-	1	0	TAS2R30	11177426	0.013000	0.17824	0.006000	0.13384	0.341000	0.28922	0.434000	0.21494	-0.006000	0.14370	0.313000	0.20887	CAA		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286159	G	A	11286159	4	1	22	1	0	0	0	0	0	1	0	0	15570	1328	46	3	278	3	TAS2R30	12	11286159	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8157844	11286159	122565736	59	1408											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658236	18658236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaattaggccttgaggaActttttctactcctgtgctg	9	15	9	8	0	1	2	0	2	1	0	2	3	2	3	2	2	3	1	2	2	5	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:18658236A>G	ENST00000266497.5	+	22	3079	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N1014S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N1055S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1014	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.N1014S(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTTGAGGAACTTTTTCTAC	0.378																																						uc001rdt.3																			1	Substitution - Missense(1)	p.N1014S(2)	central_nervous_system(1)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3040-3042)aAc>aGc		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							121	102	108					12																	18658236		1920	4137	6057	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658236A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3041A>G	12.37:g.18658236A>G	ENSP00000266497:p.Asn1014Ser					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.2_Missense_Mutation_p.N833S	p.N1014S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			22	3157	+		Hepatocellular(102;0.194)	1014			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3041A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238701	0.79800	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.76316	-1.01;-1.01;-1.01	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.114202	0.56097	D	0.000023	D	0.87736	0.6252	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89146	0.3520	10	0.72032	D	0.01	-20.3725	14.6386	0.68706	1.0:0.0:0.0:0.0	.	1054;1055;1014	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	1014;1014;1055	ENSP00000404845:N1014S;ENSP00000266497:N1014S;ENSP00000445381:N1055S	ENSP00000266497:N1014S	N	+	2	0	PIK3C2G	18549503	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.139000	0.94554	2.237000	0.73441	0.528000	0.53228	AAC		0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18658236	A	G	18658236	3	3	22	1	0	0	0	0	1	0	0	0	11911	43	2	4	3127	4	PIK3C2G	12	18658236	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	7372077	18658236	115193659	60	1409											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccatagaataccatcGccccatcagaagttcagaag	13	9	7	12	1	2	3	2	0	0	3	4	3	3	3	4	0	1	2	4	0	5	4	rs376329180		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:27841240G>A	ENST00000318304.8	+	25	2681	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	800					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		16274	0		0	False		,,,				2504	0					uc001ric.2																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2398-2400)Gcc>Acc		Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	221	221	221		1939,2305,2380,2398	0.4	0.9	12		221	0,8600		0,0,4300	no	missense,missense,missense,missense	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	647/859,769/981,794/1006,800/1012	27841240	1,13005	2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841240G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2398G>A	12.37:g.27841240G>A	ENSP00000314724:p.Ala800Thr					PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank	p.A800T	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN			24	2775	+	Lung SC(9;0.0873)		800					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2398G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	4.592	0.109921	0.08780	2.27E-4	0.0	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.59	0.36	0.16097	Sterile alpha motif/pointed domain (2);	0.227351	0.22158	N	0.063827	T	0.08980	0.0222	N	0.00219	-1.825	0.23449	N	0.997654	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.002	T	0.39542	-0.9609	10	0.07644	T	0.81	-0.6916	10.0412	0.42160	0.7779:0.0:0.2221:0.0	.	647;631;800;794;769	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	T	631;647;800;769;794	ENSP00000444304:A631T;ENSP00000445425:A647T;ENSP00000314724:A800T;ENSP00000443442:A769T;ENSP00000228425:A794T	ENSP00000228425:A794T	A	+	1	0	PPFIBP1	27732507	0.994000	0.37717	0.924000	0.36721	0.126000	0.20510	1.896000	0.39789	-0.166000	0.10890	-0.812000	0.03155	GCC		0.468	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		A	27841240	G	A	27841240	3	1	22	1	0	0	0	0	1	0	0	0	12313	1087	38	1	2516	1	PPFIBP1	12	27841240	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9183004	27841240	106010655	61	1410											
SCN8A	6334	broad.mit.edu	37	chr12	52200784	52200784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggatctgccaatggtgagCggggatcgcatccactgctt	8	10	13	10	2	1	1	0	1	1	0	3	3	2	3	2	4	3	2	2	4	1	1	rs372388512	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:52200784C>T	ENST00000354534.6	+	27	5692	c.5514C>T	c.(5512-5514)agC>agT	p.S1838S	SCN8A_ENST00000545061.1_Silent_p.S1797S|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1838					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CAATGGTGAGCGGGGATCGCA	0.562													C|||	3	0.000599042	0.0023	0	5008	,	,		21043	0		0	False		,,,				2504	0					uc001ryw.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5512-5514)agC>agT		Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	Lamotrigine(DB00555)	C	,	12,4208		0,12,2098	84	87	86		5391,5514	-1.6	1	12		86	0,8502		0,0,4251	no	coding-synonymous,coding-synonymous	SCN8A	NM_001177984.1,NM_014191.2	,	0,12,6349	TT,TC,CC		0.0,0.2844,0.0943	,	1797/1940,1838/1981	52200784	12,12710	2110	4251	6361	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200784C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5514C>T	12.37:g.52200784C>T						SCN8A_uc010snl.2_Silent_p.S1797S	p.S1838S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	26	5692	+			1838					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5514C>T	CCDS44891.1																																																																																				0.562	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		T	52200784	C	T	52200784	2	4	22	1	0	0	0	0	0	0	0	1	13924	767	27	1		1	SCN8A	12	52200784	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	24359544	52200784	81651111	62	1411											
LUM	4060	broad.mit.edu	37	chr12	91502375	91502375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccacagactctgtcaGgttgttgtggtttatatgca	7	14	12	8	0	2	1	1	0	1	1	2	1	2	1	1	3	1	4	1	3	2	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:91502375G>T	ENST00000266718.4	-	2	836	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	128					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.L128M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GACTCTGTCAGGTTGTTGTGG	0.418																																						uc001tbm.3																			1	Substitution - Missense(1)	p.L128M(2)	central_nervous_system(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(382-384)Ctg>Atg		Homo sapiens lumican (LUM), mRNA.							101	104	103					12																	91502375		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502375G>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.382C>A	12.37:g.91502375G>T	ENSP00000266718:p.Leu128Met						p.L128M	NM_002345	NP_002336	P51884	LUM_HUMAN			1	771	-			128					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.382C>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185760	0.57909	.	.	ENSG00000139329	ENST00000266718	T	0.70869	-0.52	5.6	2.64	0.31445	.	0.000000	0.64402	D	0.000001	D	0.84338	0.5450	M	0.89904	3.07	0.50632	D	0.999887	D	0.76494	0.999	D	0.81914	0.995	D	0.84850	0.0813	10	0.87932	D	0	-19.1088	9.4868	0.38935	0.3554:0.0:0.6446:0.0	.	128	P51884	LUM_HUMAN	M	128	ENSP00000266718:L128M	ENSP00000266718:L128M	L	-	1	2	LUM	90026506	0.999000	0.42202	0.993000	0.49108	0.995000	0.86356	1.642000	0.37207	0.669000	0.31146	0.557000	0.71058	CTG		0.418	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		T	91502375	G	T	91502375	3	4	22	1	0	0	0	0	1	0	0	0	9085	991	35	5	642	5	LUM	12	91502375	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	39301591	91502375	42349520	63	1412											
SDS	10993	broad.mit.edu	37	chr12	113835119	113835119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagcaggcccccgccGcccactgacagcgcgatggc	8	2	11	20	4	0	1	0	1	0	0	0	2	0	1	5	2	2	1	5	2	0	0	rs185843116		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:113835119G>A	ENST00000257549.4	-	6	626	c.504C>T	c.(502-504)ggC>ggT	p.G168G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	168					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G168G(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GGCCCCCGCCGCCCACTGACA	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		16194	0		0	False		,,,				2504	0					uc001tvg.3																			1	Substitution - coding silent(1)	p.G168G(2)	prostate(1)	large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(502-504)ggC>ggT		Homo sapiens serine dehydratase (SDS), mRNA.	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G		2,4404	4.2+/-10.8	0,2,2201	58	58	58		504	-3.9	0.7	12		58	0,8600		0,0,4300	no	coding-synonymous	SDS	NM_006843.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		168/329	113835119	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113835119G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.504C>T	12.37:g.113835119G>A						SDS_uc001tvh.1_Silent_p.G168G	p.G168G	NM_006843	NP_006834	P20132	SDHL_HUMAN			5	626	-			168					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.504C>T	CCDS9169.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.82	2.051384	0.36181	4.54E-4	0.0	ENSG00000135094	ENST00000552280	.	.	.	4.45	-3.87	0.04218	.	.	.	.	.	T	0.45377	0.1339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	5	0.87932	D	0	-20.3633	0.0275	0.00004	0.2789:0.1963:0.2217:0.3032	.	.	.	.	W	78	.	ENSP00000449833:R78W	R	-	1	2	SDS	112319502	0.000000	0.05858	0.718000	0.30602	0.346000	0.29079	-3.455000	0.00465	-1.214000	0.02614	-0.258000	0.10820	CGG		0.662	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		A	113835119	G	A	113835119	2	1	22	1	0	0	0	0	0	0	0	1	13975	1074	38	1		1	SDS	12	113835119	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	22332744	113835119	20016776	64	1413											
FAM123A	219287	broad.mit.edu	37	chr13	25745233	25745233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacaggctctcccttgccGttttccgagcgcccgttctt	3	13	8	17	4	2	0	0	0	2	0	5	1	4	0	5	1	2	3	5	1	0	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:25745233G>A	ENST00000515384.1	-	1	1192	c.525C>T	c.(523-525)aaC>aaT	p.N175N	AMER2_ENST00000381853.3_Silent_p.N175N|AMER2_ENST00000357816.2_Silent_p.N175N|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	175					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										CTCCCTTGCCGTTTTCCGAGC	0.677																																						uc001uqb.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(523-525)aaC>aaT		Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.							14	17	16					13																	25745233		2151	4252	6403	SO:0001819	synonymous_variant	219287							g.chr13:25745233G>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.525C>T	13.37:g.25745233G>A						FAM123A_uc001uqa.3_Silent_p.N175N|FAM123A_uc001uqc.3_Silent_p.N175N	p.N175N	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	625	-		Lung SC(185;0.0225)|Breast(139;0.0602)	175					Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.525C>T	CCDS53859.1																																																																																				0.677	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		A	25745233	G	A	25745233	2	1	22	1	0	0	0	0	0	0	0	1	5422	1136	40	1		1	FAM123A	13	25745233	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08		25745233	89424645	65	1414											
PAN3	255967	broad.mit.edu	37	chr13	28840979	28840979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaagctgtaaacagcaaAgatgatctgccatattgcct	15	10	7	9	0	1	2	0	1	1	1	1	2	1	2	2	0	6	3	2	0	6	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:28840979A>T	ENST00000380958.3	+	10	1691	c.1539A>T	c.(1537-1539)aaA>aaT	p.K513N	PAN3_ENST00000282391.5_Missense_Mutation_p.K201N|PAN3_ENST00000399613.1_Missense_Mutation_p.K313N	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TAAACAGCAAAGATGATCTGC	0.373																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1537-1539)aaA>aaT		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							70	66	68					13																	28840979		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28840979A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1539A>T	13.37:g.28840979A>T	ENSP00000370345:p.Lys513Asn					PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.3_Missense_Mutation_p.K201N|PAN3_uc001urx.3_Missense_Mutation_p.K313N	p.K513N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	9	1691	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	513			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1539A>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979225	0.74360	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.05382	3.45;3.45;3.45	5.38	5.38	0.77491	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	M	0.64170	1.965	0.80722	D	1	P;D;D;D	0.89917	0.705;1.0;0.999;1.0	B;D;D;D	0.91635	0.434;0.998;0.996;0.999	T	0.02015	-1.1229	10	0.24483	T	0.36	-13.999	15.3916	0.74747	1.0:0.0:0.0:0.0	.	513;513;201;459	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	N	513;313;201	ENSP00000370345:K513N;ENSP00000382522:K313N;ENSP00000282391:K201N	ENSP00000282391:K201N	K	+	3	2	PAN3	27738979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.638000	0.54332	2.041000	0.60428	0.528000	0.53228	AAA		0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		T	28840979	A	T	28840979	3	4	22	1	0	0	0	0	1	0	0	0	11415	69	3	5	1577	5	PAN3	13	28840979	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	3095746	28840979	86328899	66	1415											
STARD13	90627	broad.mit.edu	37	chr13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactggcccggctggctgcGactgtcgctgcctccactgc	3	8	13	17	3	0	0	0	0	0	0	2	1	1	0	3	3	3	4	3	3	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:33704189G>A	ENST00000336934.5	-	5	741	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_ENST00000255486.4_Missense_Mutation_p.R201C|STARD13_ENST00000399365.3_Missense_Mutation_p.R91C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	209					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627																																						uc001uuw.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(625-627)Cgc>Tgc		Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.							33	34	34					13																	33704189		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704189G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.625C>T	13.37:g.33704189G>A	ENSP00000338785:p.Arg209Cys					STARD13_uc001uuu.3_Missense_Mutation_p.R201C|STARD13_uc001uuv.3_Missense_Mutation_p.R91C|STARD13_uc001uux.3_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C|STARD13_uc021rhz.1_Missense_Mutation_p.R201C|STARD13_uc021ria.1_Missense_Mutation_p.R91C	p.R209C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	4	751	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	209					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.625C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259473	0.39995	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.07114	3.22;3.23;3.23	5.7	2.61	0.31194	.	0.140329	0.64402	D	0.000017	T	0.23766	0.0575	M	0.70595	2.14	0.80722	D	1	D;B;B;B	0.76494	0.999;0.103;0.009;0.029	P;B;B;B	0.62184	0.899;0.033;0.006;0.013	T	0.02179	-1.1200	10	0.56958	D	0.05	.	14.2324	0.65903	0.0:0.0:0.4543:0.5457	.	201;174;209;201	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	C	91;201;209;201	ENSP00000382300:R91C;ENSP00000255486:R201C;ENSP00000338785:R209C	ENSP00000255486:R201C	R	-	1	0	STARD13	32602189	0.407000	0.25352	0.412000	0.26496	0.308000	0.27856	1.108000	0.31123	0.714000	0.32081	0.655000	0.94253	CGC		0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		A	33704189	G	A	33704189	3	1	22	1	0	0	0	0	1	0	0	0	15255	1058	37	2	2756	2	STARD13	13	33704189	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	4863210	33704189	81465689	67	1416											
LRFN5	145581	broad.mit.edu	37	chr14	42356674	42356674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattcctgaagaagagttTttgtgtgagcctcctctcat	9	15	8	9	0	2	4	2	2	1	2	5	4	4	4	3	0	1	1	3	0	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:42356674T>A	ENST00000298119.4	+	3	2035	c.846T>A	c.(844-846)ttT>ttA	p.F282L	LRFN5_ENST00000554171.1_Missense_Mutation_p.F282L|LRFN5_ENST00000554120.1_Missense_Mutation_p.F282L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	282	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGAAGAGTTTTTGTGTGAGC	0.502										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(844-846)ttT>ttA		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							138	132	134					14																	42356674		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356674T>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.846T>A	14.37:g.42356674T>A	ENSP00000298119:p.Phe282Leu	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.F282L	p.F282L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2044	+			282			LRRCT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.846T>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215911	0.58452	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.50001	0.76;0.76;0.76	5.39	4.24	0.50183	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000019	T	0.54806	0.1881	L	0.37507	1.11	0.51012	D	0.999902	D;P	0.60160	0.987;0.947	D;P	0.72075	0.976;0.829	T	0.52931	-0.8509	10	0.48119	T	0.1	.	9.5337	0.39209	0.0:0.0844:0.0:0.9156	.	282;282	G3V364;Q96NI6	.;LRFN5_HUMAN	L	282	ENSP00000298119:F282L;ENSP00000451897:F282L;ENSP00000451067:F282L	ENSP00000298119:F282L	F	+	3	2	LRFN5	41426424	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.678000	0.25277	0.975000	0.38392	0.455000	0.32223	TTT		0.502	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		A	42356674	T	A	42356674	3	1	22	1	0	0	0	0	1	0	0	0	8941	1838	64	5	848	5	LRFN5	14	42356674	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		42356674	64992866	68	1417											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858710	63858710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgtgagtgaaggatCtttctccagaaactgtacta	10	14	10	7	0	3	3	0	2	3	1	4	4	3	4	1	2	2	2	1	2	4	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:63858710C>A	ENST00000337537.3	-	9	1485	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.D219Y|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.D295Y	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	295					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGTGAAGGATCTTTCTCCAGA	0.294																																						uc001xgd.1																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(883-885)Gat>Tat		Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.							26	29	28					14																	63858710		2194	4296	6490	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858710C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.883G>T	14.37:g.63858710C>A	ENSP00000337641:p.Asp295Tyr					PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_Non-coding_Transcript	p.D295Y	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	8	1473	-			295					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.883G>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844156	0.91197	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90368	0.4378	9	0.87932	D	0	-9.1793	19.9471	0.97185	0.0:1.0:0.0:0.0	.	295;295	B7ZKK9;Q16537	.;2A5E_HUMAN	Y	295;295;219	.	ENSP00000337641:D295Y	D	-	1	0	PPP2R5E	62928463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.716000	0.84723	2.778000	0.95560	0.655000	0.94253	GAT		0.294	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		A	63858710	C	A	63858710	3	1	22	1	0	0	0	0	1	0	0	0	12396	913	32	5	544	5	PPP2R5E	14	63858710	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	21502036	63858710	43490830	69	1418											
PAPLN	89932	broad.mit.edu	37	chr14	73717702	73717702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcacgacctgctaccccGtcgcaggcacctttgacgct	7	7	10	17	5	0	1	0	1	0	0	1	2	0	1	4	2	2	5	4	2	1	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:73717702G>A	ENST00000554301.1	+	6	716	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	PAPLN_ENST00000381166.3_Missense_Mutation_p.V185I|PAPLN_ENST00000427855.1_Missense_Mutation_p.V185I|PAPLN_ENST00000555445.1_Missense_Mutation_p.V185I|PAPLN_ENST00000340738.5_Missense_Mutation_p.V185I			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	185						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGCTACCCCGTCGCAGGCAC	0.632																																						uc010ttx.2																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(553-555)Gtc>Atc		Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.							99	85	90					14																	73717702		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73717702G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.553G>A	14.37:g.73717702G>A	ENSP00000451803:p.Val185Ile					PAPLN_uc001xnw.4_Missense_Mutation_p.V185I|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.V185I	p.V185I	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	5	716	+			185					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.553G>A		.	.	.	.	.	.	.	.	.	.	g	14.76	2.632744	0.47049	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.33	2.45	0.29901	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.56702	0.2003	L	0.45744	1.44	0.24069	N	0.995981	P;P;B	0.38504	0.58;0.634;0.025	B;B;B	0.37091	0.155;0.241;0.031	T	0.37957	-0.9683	9	0.27082	T	0.32	.	10.008	0.41968	0.1611:0.0:0.8389:0.0	.	185;185;185	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	I	185	ENSP00000345395:V185I;ENSP00000403403:V185I;ENSP00000370558:V185I;ENSP00000451803:V185I;ENSP00000451729:V185I	ENSP00000216658:V185I	V	+	1	0	PAPLN	72787455	1.000000	0.71417	0.078000	0.20375	0.629000	0.37895	4.146000	0.58072	0.545000	0.28902	0.550000	0.68814	GTC		0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		A	73717702	G	A	73717702	3	1	22	1	0	0	0	0	1	0	0	0	11428	1145	40	1	575	1	PAPLN	14	73717702	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9858992	73717702	33631838	70	1419											
CRIP1	1396	broad.mit.edu	37	chr14	105954816	105954816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctgcaggctttgggCggggcggagccgagagccac	5	7	16	13	3	1	1	0	0	1	1	2	3	1	2	3	5	3	2	3	5	0	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:105954816C>T	ENST00000330233.7	+	4	1145	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	CRIP1_ENST00000551180.1_Missense_Mutation_p.A36V|C14orf80_ENST00000329886.7_5'Flank|C14orf80_ENST00000392523.4_5'Flank|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000392527.1_5'Flank|CRIP1_ENST00000409393.2_Missense_Mutation_p.R68W|C14orf80_ENST00000354560.6_5'Flank|CRIP1_ENST00000392531.3_Missense_Mutation_p.R68W|C14orf80_ENST00000450383.1_5'Flank|C14orf80_ENST00000392522.3_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	68	Gly-rich.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		AGGCTTTGGGCGGGGCGGAGC	0.632																																						uc001yri.4																			0											c.(202-204)Cgg>Tgg		Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.							49	52	51					14																	105954816		2202	4298	6500	SO:0001583	missense	1396				cell proliferation	cytoplasm	zinc ion binding	g.chr14:105954816C>T		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.202C>T	14.37:g.105954816C>T	ENSP00000332449:p.Arg68Trp					C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	p.R68W	NM_001311	NP_001302	P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	4	316	+		Melanoma(154;0.226)	68			Gly-rich.		H3BPI2|Q13628|Q53XY7|Q96J34	Missense_Mutation	SNP	ENST00000330233.7	37	c.202C>T	CCDS10004.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395771	0.62177	.	.	ENSG00000213145	ENST00000330233;ENST00000409393;ENST00000392531	D;D;D	0.92446	-3.04;-3.04;-3.04	4.76	2.69	0.31865	Zinc finger, LIM-type (1);	0.119697	0.31531	N	0.007496	D	0.89757	0.6807	.	.	.	0.40782	D	0.98318	D	0.64830	0.994	P	0.46452	0.517	D	0.88082	0.2807	9	0.51188	T	0.08	-10.0018	8.207	0.31461	0.1666:0.7382:0.0:0.0952	.	68	P50238	CRIP1_HUMAN	W	68	ENSP00000332449:R68W;ENSP00000386340:R68W;ENSP00000376315:R68W	ENSP00000447493:R68W	R	+	1	2	CRIP1	105025861	0.973000	0.33851	0.993000	0.49108	0.971000	0.66376	0.990000	0.29642	1.000000	0.39049	-0.142000	0.14014	CGG		0.632	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		T	105954816	C	T	105954816	3	4	22	1	0	0	0	0	1	0	0	0	3874	759	27	1	216	1	CRIP1	14	105954816	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	32237114	105954816	1394724	71	1420											
HDC	3067	broad.mit.edu	37	chr15	50549631	50549631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggaggtacctgcaggacGcctccgccctggctgctggg	6	6	16	13	2	0	0	0	0	0	0	1	2	1	2	4	5	3	4	4	5	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr15:50549631G>A	ENST00000267845.3	-	4	834	c.432C>T	c.(430-432)ggC>ggT	p.G144G	HDC_ENST00000543581.1_Silent_p.G144G	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CCTGCAGGACGCCTCCGCCCT	0.562																																					GBM(95;1627 1936 6910 9570)	uc001zxz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(430-432)ggC>ggT		Homo sapiens histidine decarboxylase (HDC), mRNA.	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						113	98	103					15																	50549631		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50549631G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.432C>T	15.37:g.50549631G>A						HDC_uc010uff.2_Silent_p.G144G|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.G144G	p.G144G	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	3	774	-		all_lung(180;0.0138)	144						Silent	SNP	ENST00000267845.3	37	c.432C>T	CCDS10134.1																																																																																				0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			A	50549631	G	A	50549631	2	1	22	1	0	0	0	0	0	0	0	1	7015	1074	38	1		1	HDC	15	50549631	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08		50549631	51981761	72	1421											
ADCY9	115	broad.mit.edu	37	chr16	4033425	4033425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactagcaaacgtcttcacgGgggagttctttatgacctgt	9	12	11	9	2	3	1	1	1	2	0	3	3	3	2	1	2	2	2	1	2	3	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:4033425G>A	ENST00000294016.3	-	7	2865	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	776					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCTTCACGGGGGAGTTCTT	0.562																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2326-2328)cCc>cTc		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							74	62	66					16																	4033425		2196	4299	6495	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4033425G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2327C>T	16.37:g.4033425G>A	ENSP00000294016:p.Pro776Leu						p.P776L	NM_001116	NP_001107	O60503	ADCY9_HUMAN			6	2866	-			776					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2327C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699836	0.68501	.	.	ENSG00000162104	ENST00000294016	D	0.83591	-1.74	5.94	5.94	0.96194	.	0.109645	0.64402	D	0.000006	D	0.84781	0.5548	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.51582	0.674	T	0.79764	-0.1666	10	0.07813	T	0.8	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	776	O60503	ADCY9_HUMAN	L	776	ENSP00000294016:P776L	ENSP00000294016:P776L	P	-	2	0	ADCY9	3973426	1.000000	0.71417	0.309000	0.25155	0.151000	0.21798	9.350000	0.97070	2.826000	0.97356	0.561000	0.74099	CCC		0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4033425	G	A	4033425	3	1	22	1	0	0	0	0	1	0	0	0	301	1232	43	3	1754	3	ADCY9	16	4033425	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		4033425	86321328	73	1422											
MYH11	4629	broad.mit.edu	37	chr16	15844112	15844112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtgcggaacatgccCttcttggtcttggaggcgct	5	11	12	13	2	2	0	0	0	2	0	2	2	2	2	2	4	3	1	2	4	1	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:15844112C>T	ENST00000300036.5	-	16	2050	c.1941G>A	c.(1939-1941)aaG>aaA	p.K647K	MYH11_ENST00000452625.2_Silent_p.K654K|MYH11_ENST00000396324.3_Silent_p.K654K|MYH11_ENST00000576790.2_Silent_p.K647K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	647	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAACATGCCCTTCTTGGTCT	0.627			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1960-1962)aaG>aaA		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							134	99	111					16																	15844112		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15844112C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1941G>A	16.37:g.15844112C>T						MYH11_uc002ddv.3_Silent_p.K654K|MYH11_uc002ddw.3_Silent_p.K647K|MYH11_uc002ddy.3_Silent_p.K647K|MYH11_uc010bvg.3_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	p.K654K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			16	2069	-			647			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.1962G>A	CCDS10565.1																																																																																				0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		T	15844112	C	T	15844112	2	4	22	1	0	0	0	0	0	0	0	1	10031	680	24	3		3	MYH11	16	15844112	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	11810687	15844112	74510641	74	1423											
CD2BP2	10421	broad.mit.edu	37	chr16	30364599	30364599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccagaccatctccccgcGactctgcttctaaaataaca	12	8	4	17	2	3	1	0	0	3	1	4	2	3	1	5	0	2	1	5	0	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:30364599G>A	ENST00000305596.3	-	6	993	c.818C>T	c.(817-819)tCg>tTg	p.S273L	CD2BP2_ENST00000569466.1_Missense_Mutation_p.S273L|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	273					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ATCTCCCCGCGACTCTGCTTC	0.572																																						uc002dxr.3																			0		p.S273S(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(817-819)tCg>tTg		Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.							115	106	109					16																	30364599		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364599G>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.818C>T	16.37:g.30364599G>A	ENSP00000304903:p.Ser273Leu					CD2BP2_uc002dxs.3_Missense_Mutation_p.S273L	p.S273L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN			4	1071	-			273					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.818C>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	g	5.025	0.190274	0.09547	.	.	ENSG00000169217	ENST00000305596	T	0.33654	1.4	4.81	3.82	0.43975	.	0.619015	0.16973	N	0.192002	T	0.27454	0.0674	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	10	0.31617	T	0.26	-0.2598	11.533	0.50620	0.0937:0.0:0.9063:0.0	.	273	O95400	CD2B2_HUMAN	L	273	ENSP00000304903:S273L	ENSP00000304903:S273L	S	-	2	0	CD2BP2	30272100	0.850000	0.29656	0.200000	0.23457	0.127000	0.20565	3.836000	0.55813	1.076000	0.40961	0.655000	0.94253	TCG		0.572	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		A	30364599	G	A	30364599	3	1	22	1	0	0	0	0	1	0	0	0	2995	1059	37	2	215	2	CD2BP2	16	30364599	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	14520487	30364599	59990154	75	1424											
HYDIN	54768	broad.mit.edu	37	chr16	70867931	70867931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctaaggaggaagagggggCgcaggagccccatgcattcc	10	4	16	11	2	0	1	0	0	0	1	1	4	1	4	3	5	2	3	3	5	2	2	rs201554059	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:70867931C>T	ENST00000393567.2	-	79	13688	c.13538G>A	c.(13537-13539)cGc>cAc	p.R4513H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4513					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R4464H(1)|p.R4512H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGAGGGGGCGCAGGAGCCC	0.557													C|||	4	0.000798722	8e-04	0	5008	,	,		15702	0.001		0.002	False		,,,				2504	0					uc002ezr.3																			2	Substitution - Missense(2)	p.R4464H(1)|p.R4512H(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13534-13536)cGc>cAc		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.		C	HIS/ARG	0,3238		0,0,1619	7	7	7		13535	3.9	1	16		7	13,7347		0,13,3667	no	missense	HYDIN	NM_032821.2	29	0,13,5286	TT,TC,CC		0.1766,0.0,0.1227	probably-damaging	4512/5121	70867931	13,10585	1619	3680	5299	SO:0001583	missense	54768							g.chr16:70867931C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13538G>A	16.37:g.70867931C>T	ENSP00000377197:p.Arg4513His					HYDIN_uc010cfy.3_Non-coding_Transcript	p.R4512H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			78	13686	-		Ovarian(137;0.0654)	4513					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13535G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106393	0.77096	0.0	0.001766	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00976	5.48	4.87	3.92	0.45320	.	0.000000	0.33631	U	0.004713	T	0.04452	0.0122	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.32640	-0.9899	10	0.52906	T	0.07	.	12.6292	0.56646	0.0:0.9187:0.0:0.0813	.	4512	F8WD23	.	H	4513;4512	ENSP00000377197:R4513H	ENSP00000313052:R4512H	R	-	2	0	HYDIN	69425432	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.555000	0.36277	1.050000	0.40346	0.511000	0.50034	CGC		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70867931	C	T	70867931	3	4	22	1	0	0	0	0	1	0	0	0	7467	768	27	1	1859	1	HYDIN	16	70867931	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	40503332	70867931	19486822	76	1425											
HYDIN	54768	broad.mit.edu	37	chr16	71026070	71026070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggatggactccatctGggacactggggcactgtagg	7	9	16	9	0	1	0	0	0	1	0	2	3	2	3	1	6	1	3	1	6	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:71026070G>T	ENST00000393567.2	-	24	3838	c.3688C>A	c.(3688-3690)Cag>Aag	p.Q1230K	HYDIN_ENST00000448089.2_Missense_Mutation_p.Q1182K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1230					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACTCCATCTGGGACACTGGG	0.498																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3688-3690)Cag>Aag		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							91	89	90					16																	71026070		1917	4124	6041	SO:0001583	missense	54768							g.chr16:71026070G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3688C>A	16.37:g.71026070G>T	ENSP00000377197:p.Gln1230Lys						p.Q1230K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			23	3839	-		Ovarian(137;0.0654)	1230					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3688C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986271	0.35036	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.05025	5.57;3.51	4.55	4.55	0.56014	.	0.309706	0.17574	U	0.169342	T	0.07458	0.0188	L	0.44542	1.39	0.80722	D	1	P	0.40731	0.728	B	0.43445	0.42	T	0.12528	-1.0544	10	0.06236	T	0.91	.	12.9712	0.58513	0.0:0.0:1.0:0.0	.	1230	F8WD23	.	K	1230;1230;1182	ENSP00000377197:Q1230K;ENSP00000398544:Q1182K	ENSP00000313052:Q1230K	Q	-	1	0	HYDIN	69583571	1.000000	0.71417	0.842000	0.33263	0.295000	0.27426	2.984000	0.49353	2.521000	0.84997	0.511000	0.50034	CAG		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71026070	G	T	71026070	3	4	22	1	0	0	0	0	1	0	0	0	7467	1357	47	5	11926	5	HYDIN	16	71026070	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	158139	71026070	19328683	77	1426											
YWHAE	7531	broad.mit.edu	37	chr17	1257637	1257637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatcaaaagctgcttttgCcaacctaaaggtatttcaat	14	13	5	9	0	3	0	3	0	0	0	3	0	3	0	2	1	4	3	2	1	7	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:1257637C>T	ENST00000264335.8	-	5	850	c.583G>A	c.(583-585)Gca>Aca	p.A195T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A173T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	195					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.A195T(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCTGCTTTTGCCAACCTAAAG	0.348			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.3				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		2	Substitution - Missense(2)	p.A195T(3)	kidney(2)	kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(583-585)Gca>Aca		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.							80	65	70					17																	1257637		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1257637C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.583G>A	17.37:g.1257637C>T	ENSP00000264335:p.Ala195Thr					YWHAE_uc002fsk.3_Missense_Mutation_p.A173T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	p.A195T	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	4	735	-			195					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.583G>A	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186463	0.94885	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.53857	0.6	5.51	5.51	0.81932	14-3-3 domain (4);	0.129531	0.50627	U	0.000108	T	0.80507	0.4636	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85916	0.1443	10	0.87932	D	0	-13.3814	16.9304	0.86189	0.0:1.0:0.0:0.0	.	195	P62258	1433E_HUMAN	T	195;173	ENSP00000264335:A195T	ENSP00000264335:A195T	A	-	1	0	YWHAE	1204387	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.662000	0.83803	2.580000	0.87095	0.650000	0.86243	GCA		0.348	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		T	1257637	C	T	1257637	3	4	22	1	0	0	0	0	1	0	0	0	17499	739	26	3	192	3	YWHAE	17	1257637	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		1257637	79937573	78	1427											
SLFN12L	100506736	broad.mit.edu	37	chr17	33806205	33806205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaactctgttatctttcaCgtgccaggaatcaggctttt	8	16	7	10	1	4	0	2	0	2	0	4	1	4	1	1	2	2	2	1	2	3	5	rs369872858		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:33806205C>T	ENST00000260908.7	-	2	1141	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	SLFN12L_ENST00000361112.4_Missense_Mutation_p.V371M|SLFN12L_ENST00000449046.1_Missense_Mutation_p.V373M|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	342						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTATCTTTCACGTGCCAGGAA	0.448																																						uc002hjn.3																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(1111-1113)Gtg>Atg		Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.							109	80	89					17																	33806205		692	1591	2283	SO:0001583	missense	342615					integral to membrane	ATP binding	g.chr17:33806205C>T	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1024G>A	17.37:g.33806205C>T	ENSP00000437635:p.Val342Met					SLFN12L_uc021tuy.1_Missense_Mutation_p.V342M	p.V371M	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN			2	1825	-			374					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.1111G>A	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509101	0.27036	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.63255	-0.03;-0.03;-0.03	2.81	-0.639	0.11497	.	.	.	.	.	T	0.46833	0.1413	L	0.39514	1.22	0.09310	N	1	P	0.44090	0.826	B	0.40864	0.342	T	0.32903	-0.9889	9	0.30078	T	0.28	.	5.2225	0.15375	0.0:0.5334:0.0:0.4665	.	371	Q6IEE8-2	.	M	342;371;373	ENSP00000437635:V342M;ENSP00000354412:V371M;ENSP00000389348:V373M	ENSP00000437635:V342M	V	-	1	0	SLFN12L	30830318	0.003000	0.15002	0.000000	0.03702	0.194000	0.23727	0.018000	0.13422	0.040000	0.15660	0.411000	0.27672	GTG		0.448	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		T	33806205	C	T	33806205	3	4	22	1	0	0	0	0	1	0	0	0	14735	536	19	1	754	1	SLFN12L	17	33806205	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	32548568	33806205	47389005	79	1428											
KRT13	3860	broad.mit.edu	37	chr17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctctgccagcacgcGggtcaggtcaatgcctgggg	6	8	13	14	2	4	0	3	0	1	0	5	0	4	0	3	4	3	1	3	4	1	0	rs202015813		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:39659272G>A	ENST00000246635.3	-	4	860	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.R272C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.R272C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													G|||	1	0.000199681	0	0	5008	,	,		20628	0		0.001	False		,,,				2504	0					uc002hwu.1																			1	Substitution - Missense(1)	p.R272S(2)|p.R272R(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(814-816)Cgc>Tgc		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							222	210	214					17																	39659272		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659272G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.814C>T	17.37:g.39659272G>A	ENSP00000246635:p.Arg272Cys					KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc010wfr.2_Missense_Mutation_p.R165C|KRT13_uc010cxo.3_Missense_Mutation_p.R272C|KRT13_uc021txk.1_Missense_Mutation_p.R165C	p.R272C	NM_153490	NP_705694	P13646	K1C13_HUMAN			3	877	-		Breast(137;0.000286)	272			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.814C>T	CCDS11396.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.15	3.559685	0.65538	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.78595	-1.19;-1.19	4.32	4.32	0.51571	Filament (1);	0.000000	0.47852	D	0.000209	T	0.77260	0.4104	L	0.56124	1.755	0.50813	D	0.999892	B;P;B;P	0.38280	0.397;0.625;0.397;0.625	B;P;B;P	0.45377	0.119;0.478;0.119;0.478	T	0.79633	-0.1722	10	0.87932	D	0	.	10.5407	0.45031	0.0:0.0:0.666:0.334	.	260;272;272;272	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	272;272;260	ENSP00000246635:R272C;ENSP00000336604:R272C	ENSP00000157775:R260C	R	-	1	0	KRT13	36912798	0.087000	0.21565	0.998000	0.56505	0.884000	0.51177	1.928000	0.40104	2.401000	0.81631	0.561000	0.74099	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		A	39659272	G	A	39659272	3	1	22	1	0	0	0	0	1	0	0	0	8450	1116	39	2	582	2	KRT13	17	39659272	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	5853067	39659272	41535938	80	1429											
DHX58	79132	broad.mit.edu	37	chr17	40259776	40259776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagcgcctcaggtgaagCgcatacacccgttgctcctg	7	10	11	13	3	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	3	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:40259776C>T	ENST00000251642.3	-	8	1065	c.843G>A	c.(841-843)gcG>gcA	p.A281A		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	281					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGGTGAAGCGCATACACCC	0.657																																						uc002hyw.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(841-843)gcG>gcA		Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.							38	35	36					17																	40259776		2203	4296	6499	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40259776C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.843G>A	17.37:g.40259776C>T						DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.A274A	p.A281A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1066	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	281					Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.843G>A	CCDS11416.1																																																																																				0.657	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		T	40259776	C	T	40259776	2	4	22	1	0	0	0	0	0	0	0	1	4514	755	27	1		1	DHX58	17	40259776	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	600504	40259776	40935434	81	1430											
B4GALNT2	124872	broad.mit.edu	37	chr17	47246247	47246247	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgatccccgcctgcaaCgagtggctcactcaggtggg	6	9	13	13	2	2	1	2	1	0	0	3	2	3	1	3	3	2	3	3	3	1	1	rs112740954	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:47246247C>T	ENST00000300404.2	+	10	1539	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.R408*|B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.R434*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	494					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCGCCTGCAACGAGTGGCTCA	0.592													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		18942	0		0	False		,,,				2504	0				GBM(124;244 1635 8663 18097 33175)	uc002ion.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1480-1482)Cga>Tga		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG,stop/ARG	60,4346	58.7+/-95.3	1,58,2144	38	32	34		1300,1222,1480	1.6	0.7	17	dbSNP_132	34	8,8592	6.4+/-24.3	0,8,4292	yes	stop-gained,stop-gained,stop-gained	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	1,66,6436	TT,TC,CC		0.093,1.3618,0.5228	,,	434/507,408/481,494/567	47246247	68,12938	2203	4300	6503	SO:0001587	stop_gained	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47246247C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1480C>T	17.37:g.47246247C>T	ENSP00000300404:p.Arg494*					B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	p.R494*	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1539	+			494					B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	ENST00000300404.2	37	c.1480C>T	CCDS11544.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	35	5.489140	0.96323	0.013618	9.3E-4	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.28	1.6	0.23607	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5352	13.0158	0.58757	0.5491:0.4509:0.0:0.0	.	.	.	.	X	408;434;494	.	ENSP00000300404:R494X	R	+	1	2	B4GALNT2	44601246	0.000000	0.05858	0.652000	0.29579	0.996000	0.88848	-0.601000	0.05687	0.530000	0.28619	0.561000	0.74099	CGA		0.592	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		T	47246247	C	T	47246247	4	4	22	1	0	0	0	0	0	1	0	0	1267	528	19	1	1536	1	B4GALNT2	17	47246247	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	6986471	47246247	33948963	82	1431											
FASN	2194	broad.mit.edu	37	chr17	80045208	80045208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggggctaccttgggcCttgtcctgcagtgtgtacag	4	10	17	10	1	0	0	0	0	0	0	1	0	1	0	3	5	3	3	3	5	2	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:80045208C>T	ENST00000306749.2	-	20	3434	c.3216G>A	c.(3214-3216)aaG>aaA	p.K1072K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1072					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TACCTTGGGCCTTGTCCTGCA	0.672																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.3																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3214-3216)aaG>aaA		Homo sapiens fatty acid synthase (FASN), mRNA.	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						92	68	76					17																	80045208		2198	4296	6494	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045208C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3216G>A	17.37:g.80045208C>T						FASN_uc002kdw.1_Silent_p.K288K	p.K1072K	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		19	3333	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1072					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.3216G>A	CCDS11801.1																																																																																				0.672	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80045208	C	T	80045208	2	4	22	1	0	0	0	0	0	0	0	1	5683	680	24	3		3	FASN	17	80045208	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	32798961	80045208	1150002	83	1432											
ZNF521	25925	broad.mit.edu	37	chr18	22902139	22902139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtcttgtcttcaagtTtacagttggggtctgaaaaa	10	15	9	7	0	5	1	2	1	3	0	5	1	5	1	0	2	1	2	0	2	4	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:22902139T>C	ENST00000361524.3	-	3	201	c.53A>G	c.(52-54)aAa>aGa	p.K18R	ZNF521_ENST00000538137.2_Missense_Mutation_p.K18R|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTCTTCAAGTTTACAGTTGGG	0.423			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(52-54)aAa>aGa		Homo sapiens zinc finger protein 521 (ZNF521), mRNA.							113	113	113					18																	22902139		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22902139T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.53A>G	18.37:g.22902139T>C	ENSP00000354794:p.Lys18Arg					ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	p.K18R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			2	300	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		18					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.53A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386061	0.42308	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08720	3.06;3.08	5.91	5.91	0.95273	.	0.146153	0.48286	D	0.000186	T	0.04998	0.0134	N	0.08118	0	0.26072	N	0.981205	B	0.30482	0.281	B	0.21360	0.034	T	0.37197	-0.9716	10	0.36615	T	0.2	-9.0136	14.9089	0.70740	0.0:0.0:0.0:1.0	.	18	Q96K83	ZN521_HUMAN	R	18;52;18	ENSP00000354794:K18R;ENSP00000382352:K18R	ENSP00000354794:K18R	K	-	2	0	ZNF521	21156137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.524000	0.60552	2.255000	0.74692	0.533000	0.62120	AAA		0.423	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		C	22902139	T	C	22902139	3	2	22	1	0	0	0	0	1	0	0	0	17962	1841	64	4	3906	4	ZNF521	18	22902139	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		22902139	55175109	84	1433											
SS18	6760	broad.mit.edu	37	chr18	23618584	23618584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatgactgtattggtccCcgtaatagtcttcctggcct	7	13	8	13	1	1	1	0	1	1	0	3	1	3	1	5	2	0	2	5	2	3	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:23618584C>T	ENST00000415083.2	-	7	870	c.815G>A	c.(814-816)gGg>gAg	p.G272E	SS18_ENST00000269137.7_Missense_Mutation_p.G272E|SS18_ENST00000539849.1_Missense_Mutation_p.G190E|SS18_ENST00000545952.1_Missense_Mutation_p.G220E|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542420.2_Missense_Mutation_p.G249E|SS18_ENST00000542743.1_Missense_Mutation_p.G220E	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	272	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTATTGGTCCCCGTAATAGTC	0.438			T	"SSX1,  SSX2"	synovial sarcoma																																	uc002kvm.3				Dom	yes		18	18q11.2	6760	T	"synovial sarcoma translocation, chromosome 18"			M	"SSX1,  SSX2"		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0		p.G272W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(814-816)gGg>gAg		Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.							180	171	174					18																	23618584		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23618584C>T	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.815G>A	18.37:g.23618584C>T	ENSP00000414516:p.Gly272Glu					SS18_uc002kvn.3_Missense_Mutation_p.G272E|SS18_uc010xbf.2_Missense_Mutation_p.G190E|SS18_uc010xbg.2_Missense_Mutation_p.G220E|SS18_uc010xbh.2_Missense_Mutation_p.G220E|SS18_uc010xbi.2_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	p.G272E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	893	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		272			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.815G>A	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762996	0.49574	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.41065	1.08;1.12;1.01;1.06;1.01	5.66	4.79	0.61399	.	0.143577	0.64402	N	0.000005	T	0.59142	0.2172	L	0.55481	1.735	0.58432	D	0.999992	B;B;D	0.76494	0.005;0.003;0.999	B;B;D	0.71656	0.003;0.003;0.974	T	0.62699	-0.6799	10	0.66056	D	0.02	-2.5388	15.1022	0.72288	0.0:0.9317:0.0:0.0683	.	220;272;272	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	E	275;272;272;249;220;190;220	ENSP00000269137:G272E;ENSP00000438066:G249E;ENSP00000444551:G220E;ENSP00000444647:G190E;ENSP00000443097:G220E	ENSP00000269137:G272E	G	-	2	0	SS18	21872582	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	4.578000	0.60929	1.530000	0.49136	-0.150000	0.13652	GGG		0.438	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			T	23618584	C	T	23618584	3	4	22	1	0	0	0	0	1	0	0	0	15174	623	22	3	461	3	SS18	18	23618584	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	716445	23618584	54458664	85	1434											
TJP3	27134	broad.mit.edu	37	chr19	3746600	3746600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccggccctcaaggcactgCgccagtggctggcgcctgcc	4	5	15	17	3	1	0	1	0	0	0	1	0	1	0	5	5	2	2	5	5	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:3746600C>T	ENST00000541714.2	+	17	2590	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	TJP3_ENST00000382008.3_Missense_Mutation_p.R724C|TJP3_ENST00000589378.1_Missense_Mutation_p.R719C|TJP3_ENST00000587686.1_Missense_Mutation_p.R729C|TJP3_ENST00000262968.9_Missense_Mutation_p.R743C|TJP3_ENST00000539908.2_Missense_Mutation_p.R674C	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	710	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGCACTGCGCCAGTGGCT	0.647																																						uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2227-2229)Cgc>Tgc		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							22	27	25					19																	3746600		2202	4300	6502	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3746600C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2128C>T	19.37:g.3746600C>T	ENSP00000439278:p.Arg710Cys					TJP3_uc010xhs.2_Missense_Mutation_p.R710C|TJP3_uc010xht.2_Missense_Mutation_p.R674C|TJP3_uc010xhu.2_Missense_Mutation_p.R719C|TJP3_uc010xhw.2_Missense_Mutation_p.R729C	p.R743C	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2227	+			724			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.2227C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346019	0.61073	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.8	4.8	0.61643	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	T	0.46843	-0.9162	10	0.87932	D	0	.	12.0052	0.53255	0.1729:0.8271:0.0:0.0	.	729;743;724;710	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	C	710;674;724;743	ENSP00000439278:R710C;ENSP00000439991:R674C;ENSP00000371438:R724C;ENSP00000262968:R743C	ENSP00000262968:R743C	R	+	1	0	TJP3	3697600	1.000000	0.71417	0.993000	0.49108	0.675000	0.39556	2.998000	0.49465	2.196000	0.70406	0.491000	0.48974	CGC		0.647	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3746600	C	T	3746600	3	4	22	1	0	0	0	0	1	0	0	0	15928	768	27	1	2289	1	TJP3	19	3746600	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		3746600	55382383	86	1435											
CPAMD8	27151	broad.mit.edu	37	chr19	17007075	17007075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtcctgctgtaaaggccCcggggccacagaagccaggt	9	5	13	14	2	0	1	0	0	0	1	1	1	1	1	5	4	2	2	5	4	3	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17007075C>T	ENST00000443236.1	-	41	5510	c.5479G>A	c.(5479-5481)Ggg>Agg	p.G1827R	CPAMD8_ENST00000597335.1_5'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1780						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTAAAGGCCCCGGGGCCACA	0.677																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(5479-5481)Ggg>Agg		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							40	42	42					19																	17007075		1936	4138	6074	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17007075C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.5479G>A	19.37:g.17007075C>T	ENSP00000402505:p.Gly1827Arg					CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	p.G1827R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			40	5511	-			1780					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.5479G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033023	0.35893	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.23	2.23	0.28157	.	0.103668	0.38217	U	0.001764	T	0.22166	0.0534	N	0.08118	0	0.22305	N	0.999211	D	0.58620	0.983	P	0.56343	0.796	T	0.11665	-1.0578	9	0.17369	T	0.5	.	8.5388	0.33379	0.0:1.0:0.0:0.0	.	1780	Q8IZJ3	CPMD8_HUMAN	R	1827	.	ENSP00000291440:G1827R	G	-	1	0	CPAMD8	16868075	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.543000	0.23237	1.226000	0.43582	0.435000	0.28638	GGG		0.677	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17007075	C	T	17007075	3	4	22	1	0	0	0	0	1	0	0	0	3795	623	22	3	327	3	CPAMD8	19	17007075	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	13260475	17007075	42121908	87	1436											
CPAMD8	27151	broad.mit.edu	37	chr19	17025572	17025572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagctcccgggggtccacGaagataaagctgcgagcctg	9	5	14	13	3	0	1	0	0	0	1	2	3	2	1	4	2	4	2	4	2	3	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17025572G>A	ENST00000443236.1	-	28	3853	c.3822C>T	c.(3820-3822)ttC>ttT	p.F1274F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1227						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGGGTCCACGAAGATAAAGC	0.617																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3820-3822)ttC>ttT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							33	38	37					19																	17025572		2001	4171	6172	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17025572G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3822C>T	19.37:g.17025572G>A							p.F1274F	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			27	3854	-			1227					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.3822C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	1.299	-0.605474	0.03717	.	.	ENSG00000160111	ENST00000443236	T	0.37411	1.2	3.04	0.803	0.18691	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05869	-1.0859	5	.	.	.	.	6.7001	0.23221	0.3125:0.0:0.6875:0.0	.	.	.	.	L	1285	ENSP00000402505:S1285L	.	S	-	2	0	CPAMD8	16886572	1.000000	0.71417	0.457000	0.27056	0.216000	0.24613	2.175000	0.42491	-0.077000	0.12752	-0.263000	0.10527	TCG		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17025572	G	A	17025572	2	1	22	1	0	0	0	0	0	0	0	1	3795	1049	37	2		2	CPAMD8	19	17025572	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	18497	17025572	42103411	88	1437											
PSG4	5672	broad.mit.edu	37	chr19	43702421	43702421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatggagggcttgggaGtctccactgtgcagaaaaca	11	8	15	7	0	1	2	0	0	1	2	2	5	1	4	1	4	2	2	1	4	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:43702421G>C	ENST00000405312.3	-	3	674	c.437C>G	c.(436-438)aCt>aGt	p.T146S	PSG4_ENST00000244295.9_Missense_Mutation_p.T146S|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	146					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.517																																						uc002ovy.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(436-438)aCt>aGt		Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.							108	126	120					19																	43702421		2127	4271	6398	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702421G>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.437C>G	19.37:g.43702421G>C	ENSP00000384770:p.Thr146Ser					PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.T146S|PSG4_uc002owb.3_Intron	p.T146S	NM_002780	NP_002771	Q00888	PSG4_HUMAN			2	539	-		Prostate(69;0.00682)	146					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.437C>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	3.797	-0.042562	0.07452	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.10960	2.82;2.82;2.82	2.11	-0.295	0.12828	.	.	.	.	.	T	0.17152	0.0412	M	0.80028	2.48	0.09310	N	1	B;B	0.22746	0.074;0.011	B;B	0.35039	0.194;0.049	T	0.38520	-0.9657	9	0.72032	D	0.01	.	5.4721	0.16676	0.8073:0.0:0.1927:0.0	.	146;146	Q00888-2;Q00888	.;PSG4_HUMAN	S	146;146;162	ENSP00000244295:T146S;ENSP00000384770:T146S;ENSP00000388134:T162S	ENSP00000244295:T146S	T	-	2	0	PSG4	48394261	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.720000	0.25896	-0.301000	0.08882	-1.545000	0.00906	ACT		0.517	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		C	43702421	G	C	43702421	3	2	22	1	0	0	0	0	1	0	0	0	12657	1029	36	5	838	5	PSG4	19	43702421	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	26676849	43702421	15426562	89	1438											
ZNF234	10780	broad.mit.edu	37	chr19	44661986	44661986	+	Frame_Shift_Del	DEL	G	G	-																															ggagtgtgggaagcacttcaGtcaggcctcaagtctccaac																										TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:44661986delG	ENST00000426739.2	+	6	2075	c.1817delG	c.(1816-1818)agtfs	p.S606fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.S606fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCACTTCAGTCAGGCCTCA	0.468																																						uc002oym.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1816-1818)agtfs		Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.							134	142	139					19																	44661986		2196	4296	6492	SO:0001589	frameshift_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661986delG	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1817delG	19.37:g.44661986delG	ENSP00000400878:p.Ser606fs					ZNF234_uc002oyl.4_Frame_Shift_Del_p.S606fs	p.S606fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN			5	2124	+		Prostate(69;0.0435)	606					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL	ENST00000426739.2	37	c.1817delG	CCDS46101.1																																																																																				0.468	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			-	44661986	G	-	44661986	7	5	22	1	0	1	0	1	0	0	0	0	17784	1029	36	0	1831	0	ZNF234	19	44661986	Frame_Shift_Del	DEL	G	TCGA-06-0145-01A-01W-0224-08	959565	44661986	14466997	90	1439											
NLRP2	55655	broad.mit.edu	37	chr19	55505643	55505643	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgatttctaggctttgGaactgcgacataactagcga	10	13	11	7	2	1	1	0	1	1	0	1	4	1	2	0	3	4	2	0	3	4	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:55505643G>A	ENST00000543010.1	+	11	2858	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*	NLRP2_ENST00000391721.4_Nonsense_Mutation_p.W881*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.W905*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.W883*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.W882*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.W883*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.W881*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.W902*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	905					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGGCTTTGGAACTGCGACA	0.483																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2713-2715)tgG>tgA		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.							196	169	178					19																	55505643		2203	4300	6503	SO:0001587	stop_gained	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55505643G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2715G>A	19.37:g.55505643G>A	ENSP00000445135:p.Trp905*					NLRP2_uc010yfp.2_Nonsense_Mutation_p.W882*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W905*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W883*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W902*	p.W905*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	10	2826	+			905					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	ENST00000543010.1	37	c.2715G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	36	5.960134	0.97145	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.48	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.0619	0.25131	0.0:0.2845:0.7155:0.0	.	.	.	.	X	905;881;883;905;883;882;881;902	.	ENSP00000263437:W902X	W	+	3	0	NLRP2	60197455	0.436000	0.25586	0.129000	0.21949	0.139000	0.21198	1.727000	0.38095	0.561000	0.29186	0.561000	0.74099	TGG		0.483	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55505643	G	A	55505643	4	1	22	1	0	0	0	0	0	1	0	0	10477	1183	41	3	2753	3	NLRP2	19	55505643	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	10843657	55505643	3623340	91	1440											
NLRP8	126205	broad.mit.edu	37	chr19	56459556	56459556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtttccctggacgacgCgcttgggatgtgacttcgaa	7	10	14	10	5	0	1	0	1	0	0	2	6	1	3	1	2	1	2	1	2	1	3	rs146471073		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:56459556C>T	ENST00000291971.3	+	1	359	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NLRP8_ENST00000590542.1_Silent_p.R96R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGGACGACGCGCTTGGGATG	0.507																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(286-288)cgC>cgT		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		C		0,4406		0,0,2203	112	105	107		288	-4.5	0	19	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		96/1049	56459556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56459556C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.288C>T	19.37:g.56459556C>T						NLRP8_uc010etg.3_Silent_p.R96R	p.R96R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	0	359	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	96			DAPIN.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.288C>T	CCDS12937.1																																																																																				0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56459556	C	T	56459556	2	4	22	1	0	0	0	0	0	0	0	1	10483	755	27	1		1	NLRP8	19	56459556	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	953913	56459556	2669427	92	1441											
SLC32A1	140679	broad.mit.edu	37	chr20	37356997	37356997	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgggcgcctgaagtcctgGgggctgacgctgcgctgcgc	4	6	18	13	5	0	2	0	2	0	0	1	3	1	2	2	3	2	3	2	3	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:37356997G>A	ENST00000217420.1	+	2	1556	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	431					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGTCCTGGGGGCTGACGC	0.662																																						uc002xjc.3																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1291-1293)tgG>tgA		Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	Glycine(DB00145)						29	31	30					20																	37356997		2203	4300	6503	SO:0001587	stop_gained	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356997G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1293G>A	20.37:g.37356997G>A	ENSP00000217420:p.Trp431*						p.W431*	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	1556	+		Myeloproliferative disorder(115;0.00878)	431					Q8N489	Nonsense_Mutation	SNP	ENST00000217420.1	37	c.1293G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	39	7.539251	0.98345	.	.	ENSG00000101438	ENST00000217420	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5666	15.2881	0.73846	0.0:0.0:1.0:0.0	.	.	.	.	X	431	.	ENSP00000217420:W431X	W	+	3	0	SLC32A1	36790411	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.739000	0.98837	2.285000	0.76669	0.563000	0.77884	TGG		0.662	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		A	37356997	G	A	37356997	4	1	22	1	0	0	0	0	0	1	0	0	14565	1241	43	3	1299	3	SLC32A1	20	37356997	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		37356997	25668523	93	1442											
EYA2	2139	broad.mit.edu	37	chr20	45811961	45811961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaggagagctgcttcgagagGataatgcagagattcggcag	13	7	15	6	2	0	3	0	0	0	3	2	7	0	4	0	3	3	4	0	3	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:45811961G>C	ENST00000327619.5	+	15	1832	c.1458G>C	c.(1456-1458)agG>agC	p.R486S	EYA2_ENST00000317304.6_Missense_Mutation_p.R456S|EYA2_ENST00000357410.3_Missense_Mutation_p.R407S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	486					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTTCGAGAGGATAATGCAGA	0.517																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1456-1458)agG>agC		Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.							292	241	258					20																	45811961		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45811961G>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1458G>C	20.37:g.45811961G>C	ENSP00000333640:p.Arg486Ser					EYA2_uc010ghp.3_Missense_Mutation_p.R407S|EYA2_uc002xsq.3_Missense_Mutation_p.R456S	p.R486S	NM_005244	NP_005235	O00167	EYA2_HUMAN			14	1832	+		Myeloproliferative disorder(115;0.0241)	486					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1458G>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838514	0.71373	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.93906	-3.31;-3.31;-3.31	5.45	-0.294	0.12831	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.85130	0.996;0.997;0.992;0.992	D	0.93347	0.6715	10	0.87932	D	0	-2.2828	6.5873	0.22628	0.3834:0.1333:0.4833:0.0	.	407;456;486;486	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	S	486;407;456;456	ENSP00000333640:R486S;ENSP00000349986:R407S;ENSP00000321590:R456S	ENSP00000321590:R456S	R	+	3	2	EYA2	45245368	0.939000	0.31865	0.997000	0.53966	0.985000	0.73830	0.069000	0.14552	-0.046000	0.13446	0.655000	0.94253	AGG		0.517	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		C	45811961	G	C	45811961	3	2	22	1	0	0	0	0	1	0	0	0	5329	1165	41	5	1512	5	EYA2	20	45811961	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8454964	45811961	17213559	94	1443											
C21orf29	54084	broad.mit.edu	37	chr21	45948429	45948429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttccacctcggtacaCggtggctggggtcccagcgt	4	9	14	14	4	1	0	0	0	1	0	4	0	3	0	3	5	2	2	3	5	1	2	rs371022077		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr21:45948429C>T	ENST00000323084.4	-	6	893	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_ENST00000397916.1_Silent_p.P208P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	276	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(826-828)ccG>ccA		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	126	103	111		828	-10.2	0	21		111	0,8600		0,0,4300	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		276/670	45948429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948429C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.828G>A	21.37:g.45948429C>T						TSPEAR_uc010gpv.1_Silent_p.P208P	p.P276P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			5	894	-			276						Silent	SNP	ENST00000323084.4	37	c.828G>A	CCDS13712.1																																																																																				0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45948429	C	T	45948429	2	4	22	1	0	0	0	0	0	0	0	1	2124	523	19	1		1	C21orf29	21	45948429	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08		45948429	2181466	95	1444											
GPR143	4935	broad.mit.edu	37	chrX	9711643	9711643	+	Frame_Shift_Del	DEL	C	C	-																															atgattttgaaaaatcggatCttgatcacggctcccatcct																										TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:9711643delC	ENST00000467482.1	-	6	875	c.729delG	c.(727-729)aagfs	p.K243fs	GPR143_ENST00000380929.2_Frame_Shift_Del_p.K263fs			P51810	GP143_HUMAN	G protein-coupled receptor 143	243					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAAATCGGATCTTGATCACGG	0.393																																						uc004cst.2																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(727-729)aagfs		Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.							162	140	147					X																	9711643		2203	4300	6503	SO:0001589	frameshift_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9711643delC	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.729delG	X.37:g.9711643delC	ENSP00000417161:p.Lys243fs						p.K243fs	NM_000273	NP_000264	P51810	GP143_HUMAN			5	877	-		Hepatocellular(5;0.000888)	243					Q6NTI7	Frame_Shift_Del	DEL	ENST00000467482.1	37	c.729delG	CCDS14134.2																																																																																				0.393	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		-	9711643	C	-	9711643	7	5	22	1	0	1	0	1	0	0	0	0	6651	912	32	0	501	0	GPR143	23	9711643	Frame_Shift_Del	DEL	C	TCGA-06-0145-01A-01W-0224-08		9711643	145558917	96	1445											
SCML2	10389	broad.mit.edu	37	chrX	18260650	18260650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccacagaccaggttgaaGggtccttagagaagccttgt	11	9	11	10	0	0	3	0	1	0	2	2	4	2	3	4	2	1	1	4	2	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:18260650G>T	ENST00000251900.4	-	14	2042	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	SCML2_ENST00000398048.3_Intron|SCML2_ENST00000491988.1_5'Flank	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	628					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCAGGTTGAAGGGTCCTTAGA	0.453																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1882-1884)cCt>cAt		Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.							108	90	96					X																	18260650		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18260650G>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1883C>A	X.37:g.18260650G>T	ENSP00000251900:p.Pro628His					SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	p.P628H	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			13	2040	-	Hepatocellular(33;0.183)		628					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1883C>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551390	0.86127	.	.	ENSG00000102098	ENST00000251900	T	0.34072	1.38	5.08	5.08	0.68730	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.062472	0.64402	D	0.000004	T	0.61123	0.2322	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65813	-0.6077	10	0.87932	D	0	.	18.057	0.89366	0.0:0.0:1.0:0.0	.	628	Q9UQR0	SCML2_HUMAN	H	628	ENSP00000251900:P628H	ENSP00000251900:P628H	P	-	2	0	SCML2	18170571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.121000	0.94375	2.288000	0.76882	0.591000	0.81541	CCT		0.453	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		T	18260650	G	T	18260650	3	4	22	1	0	0	0	0	1	0	0	0	13910	1000	35	5	227	5	SCML2	23	18260650	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8549007	18260650	137009910	97	1446											
CNKSR2	22866	broad.mit.edu	37	chrX	21670464	21670464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattatcgataaagtcctagAcaatccagacttgacatcta	15	11	5	10	1	1	3	0	1	1	2	4	4	3	3	2	0	0	0	2	0	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:21670464A>G	ENST00000379510.3	+	22	2966	c.2930A>G	c.(2929-2931)gAc>gGc	p.D977G	CNKSR2_ENST00000425654.2_Missense_Mutation_p.D947G	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	977					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAGTCCTAGACAATCCAGAC	0.378																																						uc004czx.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2929-2931)gAc>gGc		Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.							116	99	105					X																	21670464		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670464A>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2930A>G	X.37:g.21670464A>G	ENSP00000368824:p.Asp977Gly					CNKSR2_uc011mjo.2_Missense_Mutation_p.D947G	p.D977G	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			21	3410	+			977					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2930A>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375497	0.24857	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.15487	2.42;2.42	5.8	5.8	0.92144	.	0.111736	0.64402	D	0.000019	T	0.11153	0.0272	N	0.19112	0.55	0.80722	D	1	P;P	0.37122	0.583;0.583	B;B	0.30646	0.08;0.118	T	0.18493	-1.0335	10	0.27082	T	0.32	-24.8868	15.0965	0.72238	1.0:0.0:0.0:0.0	.	947;977	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	G	947;977	ENSP00000397906:D947G;ENSP00000368824:D977G	ENSP00000368824:D977G	D	+	2	0	CNKSR2	21580385	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.690000	0.61731	1.948000	0.56530	0.441000	0.28932	GAC		0.378	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		G	21670464	A	G	21670464	3	3	22	1	0	0	0	0	1	0	0	0	3607	275	10	4	3025	4	CNKSR2	23	21670464	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	3409814	21670464	133600096	98	1447											
DMD	1756	broad.mit.edu	37	chrX	31986588	31986588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccagttgcattcaatGttctgacaacagtttgccgc	8	13	7	13	1	2	1	1	1	1	0	3	1	3	1	3	0	3	4	3	0	2	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:31986588G>A	ENST00000357033.4	-	45	6688	c.6482C>T	c.(6481-6483)aCa>aTa	p.T2161I	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.T2157I|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2161					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCATTCAATGTTCTGACAAC	0.428																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6481-6483)aCa>aTa		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							84	73	77					X																	31986588		2202	4298	6500	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986588G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6482C>T	X.37:g.31986588G>A	ENSP00000354923:p.Thr2161Ile					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	p.T2161I	NM_004006	NP_004001	P11532	DMD_HUMAN			44	6726	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2161					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6482C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	4.172	0.030521	0.08101	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50548	0.74;0.74	5.37	1.96	0.26148	.	0.822411	0.09653	U	0.773397	T	0.25269	0.0614	N	0.14661	0.345	0.09310	N	1	B;B;P;B;B;B	0.34864	0.04;0.0;0.473;0.0;0.259;0.0	B;B;B;B;B;B	0.31101	0.011;0.001;0.124;0.001;0.096;0.001	T	0.14035	-1.0487	10	0.23302	T	0.38	.	5.3244	0.15898	0.222:0.0:0.5317:0.2463	.	820;2153;2161;2157;820;817	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	I	2153;820;817;2157;2161;2161;2038	ENSP00000367948:T2157I;ENSP00000354923:T2161I	ENSP00000354923:T2161I	T	-	2	0	DMD	31896509	0.943000	0.32029	0.040000	0.18447	0.934000	0.57294	1.127000	0.31357	0.366000	0.24427	0.538000	0.68166	ACA		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	31986588	G	A	31986588	3	1	22	1	0	0	0	0	1	0	0	0	4580	1377	48	3	4863	3	DMD	23	31986588	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	10316124	31986588	123283972	99	1448											
PIM2	11040	broad.mit.edu	37	chrX	48771498	48771498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttgcatccaggggtcCagcaggatctcttccagtga	7	11	13	10	0	1	1	0	1	1	0	5	2	4	2	3	4	2	3	3	4	0	2	rs376642354		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:48771498C>A	ENST00000376509.4	-	6	1035	c.846G>T	c.(844-846)ctG>ctT	p.L282L	SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000376521.1_5'Flank|SLC35A2_ENST00000452555.2_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376529.3_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCCAGGGGTCCAGCAGGATCT	0.617																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(844-846)ctG>ctT		Homo sapiens pim-2 oncogene (PIM2), mRNA.		C		0,3831		0,0,1632,567	31	29	29		846	3.9	1	X		29	1,6717		0,1,2425,1866	no	coding-synonymous	PIM2	NM_006875.3		0,1,4057,2433	AA,AC,CC,C		0.0149,0.0,0.0095		282/312	48771498	1,10548	2199	4292	6491	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48771498C>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.846G>T	X.37:g.48771498C>A						SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	p.L282L	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			5	1148	-			282			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.846G>T	CCDS14312.1																																																																																				0.617	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			A	48771498	C	A	48771498	2	1	22	1	0	0	0	0	0	0	0	1	11928	581	21	5		5	PIM2	23	48771498	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	16784910	48771498	106499062	100	1449											
P2RY4	5030	broad.mit.edu	37	chrX	69478786	69478786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgtgcagagcctggcaagGgctgatacaggcgacgagcc	10	5	15	11	2	0	2	0	1	0	1	0	4	0	2	2	3	4	3	2	3	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69478786G>T	ENST00000374519.2	-	1	868	c.689C>A	c.(688-690)cCc>cAc	p.P230H		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	230					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCCTGGCAAGGGCTGATACAG	0.582																																						uc004dxz.1																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(688-690)cCc>cAc		Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.							61	55	57					X																	69478786		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478786G>T	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.689C>A	X.37:g.69478786G>T	ENSP00000363643:p.Pro230His						p.P230H	NM_002565	NP_002556	P51582	P2RY4_HUMAN			0	869	-			230					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.689C>A	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628303	0.28978	.	.	ENSG00000186912	ENST00000374519	T	0.61859	0.07	4.43	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.72061	0.3414	M	0.68952	2.095	0.50467	D	0.999874	D	0.89917	1.0	D	0.80764	0.994	T	0.74134	-0.3763	10	0.66056	D	0.02	.	12.728	0.57183	0.0:0.1621:0.8379:0.0	.	230	P51582	P2RY4_HUMAN	H	230	ENSP00000363643:P230H	ENSP00000363643:P230H	P	-	2	0	P2RY4	69395511	1.000000	0.71417	0.055000	0.19348	0.064000	0.16182	4.440000	0.59975	0.867000	0.35654	0.589000	0.80489	CCC		0.582	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		T	69478786	G	T	69478786	3	4	22	1	0	0	0	0	1	0	0	0	11353	1232	43	5	412	5	P2RY4	23	69478786	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	20707288	69478786	85791774	101	1450											
KIF4A	24137	broad.mit.edu	37	chrX	69626855	69626855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatggtgatggtgatgAtgatgagggggatgacgagg	10	9	21	1	1	0	7	0	7	0	0	0	10	0	9	0	6	0	0	0	6	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69626855A>G	ENST00000374403.3	+	28	3267	c.3185A>G	c.(3184-3186)gAt>gGt	p.D1062G	KIF4A_ENST00000374388.3_Missense_Mutation_p.D1062G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1062	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						gatggtgatgatgatgagggg	0.433																																						uc004dyg.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(3184-3186)gAt>gGt		Homo sapiens kinesin family member 4A (KIF4A), mRNA.							83	70	75					X																	69626855		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69626855A>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3185A>G	X.37:g.69626855A>G	ENSP00000363524:p.Asp1062Gly					KIF4A_uc010nkw.3_Missense_Mutation_p.D1062G	p.D1062G	NM_012310	NP_036442	O95239	KIF4A_HUMAN			27	3328	+			1062			Globular.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.3185A>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	0.270	-0.993218	0.02145	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69435	-0.4;-0.29	5.06	-9.97	0.00440	.	1.894140	0.02256	N	0.067131	T	0.47710	0.1460	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	9	.	.	.	.	2.9225	0.05773	0.509:0.0906:0.1253:0.2751	.	1062	O95239	KIF4A_HUMAN	G	1062;1062;364	ENSP00000363509:D1062G;ENSP00000363524:D1062G	.	D	+	2	0	KIF4A	69543580	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-2.982000	0.00662	-2.608000	0.00447	-1.043000	0.02367	GAT		0.433	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		G	69626855	A	G	69626855	3	3	22	1	0	0	0	0	1	0	0	0	8303	333	12	4	3291	4	KIF4A	23	69626855	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	148069	69626855	85643705	102	1451											
MED12	9968	broad.mit.edu	37	chrX	70351950	70351950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctcttggagaacatcGccaaggccacaatcgaggtt	11	8	9	13	2	1	1	0	0	1	1	4	3	2	1	3	3	1	1	3	3	3	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:70351950G>A	ENST00000374080.3	+	30	4179	c.4147G>A	c.(4147-4149)Gcc>Acc	p.A1383T	MED12_ENST00000374102.1_Missense_Mutation_p.A1383T|MED12_ENST00000333646.6_Missense_Mutation_p.A1383T			Q93074	MED12_HUMAN	mediator complex subunit 12	1383					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAGAACATCGCCAAGGCCAC	0.507			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4147-4149)Gcc>Acc		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							88	80	83					X																	70351950		2069	4187	6256	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70351950G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4147G>A	X.37:g.70351950G>A	ENSP00000363193:p.Ala1383Thr					MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.3_Missense_Mutation_p.A1383T|MED12_uc004dza.3_Missense_Mutation_p.A1230T|MED12_uc010nla.3_Missense_Mutation_p.A9T	p.A1383T	NM_005120	NP_005111	Q93074	MED12_HUMAN			29	4346	+	Renal(35;0.156)		1383					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4147G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864456	0.91511	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.68823	-0.5307	10	0.87932	D	0	-14.9597	16.6215	0.84931	0.0:0.0:1.0:0.0	.	1383;1230;1383;1383	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	T	1383;1383;1383;1383;1351;128	ENSP00000333125:A1383T;ENSP00000363215:A1383T;ENSP00000363193:A1383T;ENSP00000414203:A1351T;ENSP00000408388:A128T	ENSP00000333125:A1383T	A	+	1	0	MED12	70268675	1.000000	0.71417	0.964000	0.40570	0.916000	0.54674	9.341000	0.97041	2.184000	0.69523	0.523000	0.50628	GCC		0.507	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70351950	G	A	70351950	3	1	22	1	0	0	0	0	1	0	0	0	9428	1087	38	1	4265	1	MED12	23	70351950	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	725095	70351950	84918610	103	1452											
DIAPH2	1730	broad.mit.edu	37	chrX	96171460	96171460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattacaaaggattctaggAgatgaaagaagtcttttact	15	12	10	4	0	2	3	0	1	2	2	2	6	2	5	0	3	2	0	0	3	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:96171460A>G	ENST00000324765.8	+	8	1103	c.756A>G	c.(754-756)ggA>ggG	p.G252G	DIAPH2_ENST00000373061.3_Silent_p.G252G|DIAPH2_ENST00000355827.4_Silent_p.G252G|DIAPH2_ENST00000373054.4_Silent_p.G248G|DIAPH2_ENST00000373049.4_Silent_p.G252G			O60879	DIAP2_HUMAN	diaphanous-related formin 2	252	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGATTCTAGGAGATGAAAGAA	0.299																																						uc004efu.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(754-756)ggA>ggG		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							52	49	50					X																	96171460		2203	4296	6499	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96171460A>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.756A>G	X.37:g.96171460A>G						DIAPH2_uc004eft.4_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	p.G252G	NM_006729	NP_006720	O60879	DIAP2_HUMAN			7	1152	+			252			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.756A>G	CCDS14467.1																																																																																				0.299	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		G	96171460	A	G	96171460	2	3	22	1	0	0	0	0	0	0	0	1	4519	291	11	4		4	DIAPH2	23	96171460	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	25819510	96171460	59099100	104	1453											
RGAG1	57529	broad.mit.edu	37	chrX	109694565	109694565	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attacagatgaagacaccgaAgcaatgtccaaagtgctaat	17	8	8	8	1	0	3	0	1	0	2	1	4	1	3	2	0	3	2	2	0	6	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:109694565A>G	ENST00000465301.2	+	3	966	c.720A>G	c.(718-720)gaA>gaG	p.E240E	RGAG1_ENST00000540313.1_Silent_p.E240E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	240										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGACACCGAAGCAATGTCCA	0.468																																						uc004eor.2																			0		p.T239S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(718-720)gaA>gaG		Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.							115	105	108					X																	109694565		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694565A>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.720A>G	X.37:g.109694565A>G						RGAG1_uc011msr.1_Silent_p.E240E	p.E240E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			2	966	+			240					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.720A>G	CCDS14552.1																																																																																				0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109694565	A	G	109694565	2	3	22	1	0	0	0	0	0	0	0	1	13274	69	3	4		4	RGAG1	23	109694565	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	13523105	109694565	45575995	105	1454											
ODZ1	10178	broad.mit.edu	37	chrX	123637433	123637433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggattcaaaatgtgaTgcttattcaaagaccagcct	13	13	8	7	0	2	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	4	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:123637433T>C	ENST00000371130.3	-	19	3485	c.3422A>G	c.(3421-3423)cAt>cGt	p.H1141R	TENM1_ENST00000422452.2_Missense_Mutation_p.H1141R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1141					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAAAATGTGATGCTTATTCAA	0.358																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(3421-3423)cAt>cGt		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							152	148	149					X																	123637433		2203	4299	6502	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123637433T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3422A>G	X.37:g.123637433T>C	ENSP00000360171:p.His1141Arg					ODZ1_uc011muj.2_Missense_Mutation_p.H1140R|ODZ1_uc004euj.3_Missense_Mutation_p.H1141R	p.H1141R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			18	3486	-			1141					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3422A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589291	0.86851	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90069	-2.61;-2.58	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.91635	0.977;0.994;0.999	D	0.95287	0.8391	10	0.87932	D	0	.	14.9788	0.71296	0.0:0.0:0.0:1.0	.	1140;1141;1141	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1141	ENSP00000360171:H1141R;ENSP00000403954:H1141R	ENSP00000360171:H1141R	H	-	2	0	ODZ1	123465114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.920000	0.55613	0.486000	0.48141	CAT		0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	123637433	T	C	123637433	3	2	22	1	0	0	0	0	1	0	0	0	10834	1464	51	4	4832	4	ODZ1	23	123637433	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	13942868	123637433	31633127	106	1455											
GABRE	2564	broad.mit.edu	37	chrX	151129839	151129839	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcatcaatggtcatccTggaagggagaaaggagcctc	11	7	13	10	1	2	1	2	0	0	1	5	4	4	3	3	5	1	1	3	5	3	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:151129839T>A	ENST00000370328.3	-	5	617		c.e5-2		MIR224_ENST00000384889.1_RNA|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370325.1_Splice_Site	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGTCATCCTGGAAGGGAGA	0.493																																						uc004ffi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.e5-1		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.							101	90	94					X																	151129839		2202	4300	6502	SO:0001630	splice_region_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151129839T>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.564-2A>T	X.37:g.151129839T>A						GABRE_uc011myd.2_Splice_Site|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank	p.R188_splice	NM_004961	NP_004952	P78334	GBRE_HUMAN			5	618	-	Acute lymphoblastic leukemia(192;6.56e-05)		188					E7ET93|O15345|O15346|Q6PCD2|Q99520	Splice_Site	SNP	ENST00000370328.3	37	c.564_splice	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224146	0.79576	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5806	0.56388	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRE	150880495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	1.878000	0.54408	0.486000	0.48141	.		0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	Intron	A	151129839	T	A	151129839	5	1	22	1	0	0	0	0	0	0	1	0	6170	1594	55	5	978	5	GABRE	23	151129839	Splice_Site	SNP	T	TCGA-06-0145-01A-01W-0224-08	27492406	151129839	4140721	107	1456											
ATP2B3	492	broad.mit.edu	37	chrX	152801876	152801876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctacggggatgtcagCgggctctgccggaggctgaa	7	6	18	10	3	2	1	1	1	1	0	2	4	2	3	2	6	3	2	2	6	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:152801876C>T	ENST00000349466.2	+	2	497	c.171C>T	c.(169-171)agC>agT	p.S57S	ATP2B3_ENST00000359149.3_Silent_p.S57S|ATP2B3_ENST00000393842.1_Silent_p.S57S|ATP2B3_ENST00000263519.4_Silent_p.S57S|ATP2B3_ENST00000370186.1_Silent_p.S57S|ATP2B3_ENST00000370181.2_Silent_p.S57S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	57					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGTCAGCGGGCTCTGCC	0.667																																						uc004fht.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(169-171)agC>agT		Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.							39	36	37					X																	152801876		2194	4295	6489	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152801876C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.171C>T	X.37:g.152801876C>T						ATP2B3_uc004fhs.1_Silent_p.S57S	p.S57S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			0	297	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		57					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.171C>T	CCDS35440.1																																																																																				0.667	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152801876	C	T	152801876	2	4	22	1	0	0	0	0	0	0	0	1	1141	767	27	1		1	ATP2B3	23	152801876	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	1672037	152801876	2468684	108	1457											
PI4KB	5298	broad.mit.edu	37	chr1	151265387	151265387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttggtggtgatagaccGcatactgccatccaccatct	9	11	10	11	1	1	2	0	1	1	1	2	3	2	2	4	2	2	2	4	2	2	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:151265387G>A	ENST00000368873.1	-	12	2560	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W	PI4KB_ENST00000368875.2_Missense_Mutation_p.R810W|PI4KB_ENST00000368874.4_Missense_Mutation_p.R783W|PI4KB_ENST00000368872.1_Missense_Mutation_p.R783W|PI4KB_ENST00000271657.5_Missense_Mutation_p.R810W|PI4KB_ENST00000529142.1_Missense_Mutation_p.R466W			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	798					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGATAGACCGCATACTGCCA	0.577																																					Colon(154;765 1838 9854 28443 37492)	uc001exr.3																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2428-2430)Cgg>Tgg		Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.							141	134	136					1																	151265387		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265387G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2392C>T	1.37:g.151265387G>A	ENSP00000357867:p.Arg798Trp					PI4KB_uc001exs.3_Missense_Mutation_p.R783W|PI4KB_uc001exu.3_Missense_Mutation_p.R783W|PI4KB_uc010pcw.2_Missense_Mutation_p.R466W|PI4KB_uc001ext.3_Missense_Mutation_p.R798W	p.R810W	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	3067	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		798					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.2428C>T		.	.	.	.	.	.	.	.	.	.	G	19.79	3.893823	0.72639	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.54	4.61	0.57282	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	L	0.48642	1.525	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.64144	0.872;0.922;0.784	T	0.01018	-1.1479	10	0.66056	D	0.02	-17.6211	11.0221	0.47724	0.0:0.0:0.6486:0.3514	.	798;783;466	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	W	783;810;810;798;466;783;209	ENSP00000357868:R783W;ENSP00000357869:R810W;ENSP00000271657:R810W;ENSP00000357867:R798W;ENSP00000433149:R466W;ENSP00000357866:R783W;ENSP00000410974:R209W	ENSP00000271657:R810W	R	-	1	2	PI4KB	149532011	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.216000	0.58540	1.514000	0.48869	0.655000	0.94253	CGG		0.577	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		A	151265387	G	A	151265387	3	1	23	1	0	0	0	0	1	0	0	0	11874	1086	38	1	62	1	PI4KB	1	151265387	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		151265387	97985234	1	1458											
DUSP27	92235	broad.mit.edu	37	chr1	167097496	167097496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagccctacttcttccGccggaccccagagtcctcag	7	7	8	19	2	2	2	1	0	1	2	4	3	4	3	7	1	2	0	7	1	1	3	rs373097210		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:167097496G>A	ENST00000361200.2	+	6	3294	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1043H|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1043H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1043					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACTTCTTCCGCCGGACCCCA	0.587													G|||	1	0.000199681	0	0	5008	,	,		17980	0.001		0	False		,,,				2504	0					uc001geb.1																			0		p.R1043S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3127-3129)cGc>cAc		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	30	35	34		3128	3	1	1		34	0,8600		0,0,4300	no	missense	DUSP27	NM_001080426.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	1043/1159	167097496	2,13004	2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097496G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3128G>A	1.37:g.167097496G>A	ENSP00000354483:p.Arg1043His						p.R1043H	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	3144	+			1043					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3128G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404622	0.42613	4.54E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03607	3.87;3.87;3.87	5.25	3.01	0.34805	.	0.728597	0.12539	N	0.460071	T	0.02047	0.0064	L	0.57536	1.79	0.25501	N	0.987551	B	0.18610	0.029	B	0.10450	0.005	T	0.36553	-0.9743	10	0.87932	D	0	-4.8272	11.2261	0.48884	0.1697:0.0:0.8303:0.0	.	1043	Q5VZP5	DUS27_HUMAN	H	1043	ENSP00000354483:R1043H;ENSP00000271385:R1043H;ENSP00000404874:R1043H	ENSP00000271385:R1043H	R	+	2	0	DUSP27	165364120	0.997000	0.39634	0.989000	0.46669	0.516000	0.34256	2.891000	0.48617	1.189000	0.43028	0.643000	0.83706	CGC		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167097496	G	A	167097496	3	1	23	1	0	0	0	0	1	0	0	0	4824	1087	38	1	3146	1	DUSP27	1	167097496	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	15832109	167097496	82153125	2	1459											
TNN	63923	broad.mit.edu	37	chr1	175097757	175097757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgtttcccacacccttcgGactgcagtcaggttcagcag	7	9	9	16	2	2	0	2	0	0	0	4	1	3	1	3	2	2	4	3	2	0	3	rs200234361	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:175097757G>A	ENST00000239462.4	+	15	3318	c.3205G>A	c.(3205-3207)Gac>Aac	p.D1069N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1069	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACACCCTTCGGACTGCAGTCA	0.547																																						uc001gkl.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3205-3207)Gac>Aac		Homo sapiens tenascin N (TNN), mRNA.							91	87	88					1																	175097757		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097757G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3205G>A	1.37:g.175097757G>A	ENSP00000239462:p.Asp1069Asn						p.D1069N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	14	3318	+		Breast(1374;0.000962)	1069			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3205G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907766	0.92107	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.81415	-1.49	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	L	0.58354	1.805	0.58432	D	0.999992	P	0.38223	0.623	B	0.40659	0.336	T	0.81351	-0.0972	10	0.51188	T	0.08	.	15.2509	0.73545	0.0:0.0:1.0:0.0	.	1069	Q9UQP3	TENN_HUMAN	N	1069;892	ENSP00000239462:D1069N	ENSP00000239462:D1069N	D	+	1	0	TNN	173364380	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	6.067000	0.71193	2.385000	0.81259	0.462000	0.41574	GAC		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175097757	G	A	175097757	3	1	23	1	0	0	0	0	1	0	0	0	16320	1174	41	3	3259	3	TNN	1	175097757	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	8000261	175097757	74152864	3	1460											
CFHR5	81494	broad.mit.edu	37	chr1	196964976	196964976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttataataaacgggcCtaagaaaatacaatgtgtgg	17	12	8	4	1	0	1	0	0	0	1	0	1	0	1	1	2	2	0	1	2	10	7			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:196964976C>G	ENST00000256785.4	+	5	846	c.737C>G	c.(736-738)cCt>cGt	p.P246R	CFHR5_ENST00000367414.5_Missense_Mutation_p.P270R			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATAAACGGGCCTAAGAAAATA	0.333																																						uc001gts.4																			0		p.G245R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(736-738)cCt>cGt		Homo sapiens complement factor H-related 5 (CFHR5), mRNA.							95	102	100					1																	196964976		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964976C>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.737C>G	1.37:g.196964976C>G	ENSP00000256785:p.Pro246Arg						p.P246R	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			4	865	+			246			Sushi 4.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.737C>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803892	0.31869	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.62639	0.01;0.01	3.49	2.56	0.30785	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67239	0.2872	M	0.67700	2.07	0.09310	N	1	P	0.47191	0.891	P	0.54889	0.763	T	0.53878	-0.8376	9	0.25751	T	0.34	.	7.0475	0.25055	0.0:0.8649:0.0:0.1351	.	246	Q9BXR6	FHR5_HUMAN	R	270;246	ENSP00000356384:P270R;ENSP00000256785:P246R	ENSP00000256785:P246R	P	+	2	0	CFHR5	195231599	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.492000	0.35594	0.580000	0.29522	0.544000	0.68410	CCT		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		G	196964976	C	G	196964976	3	3	23	1	0	0	0	0	1	0	0	0	3288	681	24	5	755	5	CFHR5	1	196964976	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	21867219	196964976	52285645	4	1461											
DDX59	83479	broad.mit.edu	37	chr1	200635187	200635187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcatctgcatttgaatggGagttggcacctcatagcctg	10	12	10	9	0	3	1	2	1	1	0	3	2	3	2	2	2	2	3	2	2	3	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:200635187G>A	ENST00000331314.6	-	2	895	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	DDX59_ENST00000447706.2_Missense_Mutation_p.P228S|DDX59_ENST00000367348.3_Missense_Mutation_p.P228S	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	228						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATTTGAATGGGAGTTGGCACC	0.458																																						uc009wzk.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(682-684)Ccc>Tcc		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.							150	151	151					1																	200635187		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635187G>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.682C>T	1.37:g.200635187G>A	ENSP00000330460:p.Pro228Ser					DDX59_uc010ppl.1_Missense_Mutation_p.P228S	p.P228S	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			1	925	-			228					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.682C>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973626	0.92919	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.51574	0.7;0.7;0.7	5.33	5.33	0.75918	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.64859	-0.6308	10	0.19590	T	0.45	-18.0534	19.0796	0.93177	0.0:0.0:1.0:0.0	.	228;228	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	S	228	ENSP00000394367:P228S;ENSP00000356317:P228S;ENSP00000330460:P228S	ENSP00000330460:P228S	P	-	1	0	DDX59	198901810	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.848000	0.99507	2.498000	0.84270	0.650000	0.86243	CCC		0.458	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		A	200635187	G	A	200635187	3	1	23	1	0	0	0	0	1	0	0	0	4376	1174	41	3	1205	3	DDX59	1	200635187	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	3670211	200635187	48615434	5	1462											
ZRANB3	84083	broad.mit.edu	37	chr2	135965224	135965224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaccgtgaatcccaaGagttcgctttacatgcttgc	12	10	8	11	2	0	2	0	1	0	1	2	2	1	2	2	0	5	4	2	0	5	4			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:135965224G>T	ENST00000264159.6	-	19	2905	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.S928Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.S928Y	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	930					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGAATCCCAAGAGTTCGCTTT	0.428																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2788-2790)tCt>tAt		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							209	194	199					2																	135965224		1922	4139	6061	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965224G>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2789C>A	2.37:g.135965224G>T	ENSP00000264159:p.Ser930Tyr					ZRANB3_uc002tuk.3_Missense_Mutation_p.S473Y|ZRANB3_uc002tul.3_Missense_Mutation_p.S928Y	p.S930Y	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	18	2906	-			930					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2789C>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964753	0.34659	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90900	-2.75;-2.75;-2.73	5.93	3.99	0.46301	.	0.460019	0.21786	N	0.069135	T	0.77974	0.4211	N	0.01874	-0.695	0.09310	N	0.999999	B;B	0.24132	0.059;0.098	B;B	0.15484	0.006;0.013	T	0.71686	-0.4518	10	0.87932	D	0	-8.9385	15.7855	0.78300	0.0:0.2573:0.7427:0.0	.	930;928	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Y	393;393;928;930;928	ENSP00000383979:S928Y;ENSP00000264159:S930Y;ENSP00000441320:S928Y	ENSP00000264159:S930Y	S	-	2	0	ZRANB3	135681694	0.113000	0.22115	0.728000	0.30774	0.662000	0.39071	2.892000	0.48625	1.461000	0.47929	0.655000	0.94253	TCT		0.428	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		T	135965224	G	T	135965224	3	4	23	1	0	0	0	0	1	0	0	0	18221	942	33	5	462	5	ZRANB3	2	135965224	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		135965224	107234149	6	1463											
PRKRA	8575	broad.mit.edu	37	chr2	179296970	179296970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgatattgtccattggCgctcagttcatctgtaatga	10	15	8	8	1	3	2	2	2	1	0	4	2	4	2	1	1	0	3	1	1	2	6	rs148050153	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:179296970C>T	ENST00000325748.4	-	8	996	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000450044.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000420672.1_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.A255T|PRKRA_ENST00000487082.1_Missense_Mutation_p.A241T|PRKRA_ENST00000438687.3_Missense_Mutation_p.A153T|AC009948.5_ENST00000454488.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	266	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCCATTGGCGCTCAGTTCA	0.418																																					Melanoma(200;68 3001 23825 48764)	uc002umf.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(796-798)Gcc>Acc		Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	152	122	132		763,721,796	4.2	1	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PRKRA	NM_001139517.1,NM_001139518.1,NM_003690.4	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	255/303,241/289,266/314	179296970	1,13005	2203	4300	6503	SO:0001583	missense	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179296970C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.796G>A	2.37:g.179296970C>T	ENSP00000318176:p.Ala266Thr					MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.A98T|PRKRA_uc002umd.3_Missense_Mutation_p.A241T|PRKRA_uc002ume.3_Missense_Mutation_p.A255T|PRKRA_uc002umg.3_Missense_Mutation_p.A153T|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript	p.A266T	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		7	997	-			266			DRBM 3.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	c.796G>A	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378957	0.42207	0.0	1.16E-4	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.12	4.23	0.50019	Double-stranded RNA-binding (2);	0.152498	0.42053	D	0.000771	T	0.59252	0.2180	N	0.04508	-0.205	0.33655	D	0.608922	B;B	0.28783	0.222;0.072	B;B	0.15870	0.014;0.01	T	0.64373	-0.6423	10	0.28530	T	0.3	.	7.1947	0.25845	0.1712:0.7404:0.0:0.0883	.	266;255	O75569;O75569-2	PRKRA_HUMAN;.	T	266;153;241;255	ENSP00000318176:A266T;ENSP00000398980:A153T;ENSP00000430604:A241T;ENSP00000393883:A255T	ENSP00000318176:A266T	A	-	1	0	PRKRA	179005216	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.163000	0.50763	2.402000	0.81655	0.467000	0.42956	GCC		0.418	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		T	179296970	C	T	179296970	3	4	23	1	0	0	0	0	1	0	0	0	12524	768	27	1	149	1	PRKRA	2	179296970	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	43331746	179296970	63902403	7	1464											
RAD54L2	23132	broad.mit.edu	37	chr3	51690054	51690054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcagtccacccccatcCccatgatgccccggcatgtc	6	8	8	19	1	0	1	0	1	0	0	3	1	2	1	7	1	2	2	7	1	0	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:51690054C>T	ENST00000409535.2	+	19	3219	c.3094C>T	c.(3094-3096)Ccc>Tcc	p.P1032S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P726S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1032						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACCCCCATCCCCATGATGCC	0.522																																						uc011bdt.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(3094-3096)Ccc>Tcc		Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.							152	138	143					3																	51690054		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51690054C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3094C>T	3.37:g.51690054C>T	ENSP00000386520:p.Pro1032Ser					RAD54L2_uc003dbh.3_Missense_Mutation_p.P621S|RAD54L2_uc011bdu.2_Missense_Mutation_p.P726S|RAD54L2_uc003dbj.3_Missense_Mutation_p.P358S	p.P1032S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	18	3219	+			1032					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.3094C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.530830|4.530830	0.85706|0.85706	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.94613	.|-3.42;-3.47	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.051167|0.051167	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96306|0.96306	0.8795|0.8795	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.972;0.991	D|D	0.96747|0.96747	0.9551|0.9551	6|10	.|0.72032	.|D	.|0.01	-16.714|-16.714	16.2385|16.2385	0.82394|0.82394	0.0:0.8672:0.1328:0.0|0.0:0.8672:0.1328:0.0	.|.	.|1032;621	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	L|S	860|1032;726	.|ENSP00000386520:P1032S;ENSP00000296477:P726S	.|ENSP00000296477:P726S	P|P	+|+	2|1	0|0	RAD54L2|RAD54L2	51665094|51665094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.764000|5.764000	0.68826|0.68826	1.507000|1.507000	0.48752|0.48752	0.563000|0.563000	0.77884|0.77884	CCC|CCC		0.522	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51690054	C	T	51690054	3	4	23	1	0	0	0	0	1	0	0	0	12994	623	22	3	3164	3	RAD54L2	3	51690054	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08		51690054	146332376	8	1465											
RAP2B	5912	broad.mit.edu	37	chr3	152880771	152880771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggacatcaagcccatgCgggaccagatcatccgcgtg	10	6	11	14	3	2	1	2	0	0	1	4	3	4	3	4	2	2	0	4	2	1	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:152880771C>T	ENST00000323534.2	+	1	743	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	97					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAAGCCCATGCGGGACCAGAT	0.617																																						uc003ezr.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(289-291)Cgg>Tgg		Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.							100	88	92					3																	152880771		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880771C>T		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.289C>T	3.37:g.152880771C>T	ENSP00000319096:p.Arg97Trp						p.R97W	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		0	743	+			97					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.289C>T	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116322	0.56505	.	.	ENSG00000181467	ENST00000323534	T	0.80214	-1.35	4.53	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000002	T	0.74496	0.3724	L	0.49126	1.545	0.58432	D	0.999997	B	0.30281	0.275	B	0.28553	0.091	T	0.76471	-0.2947	10	0.87932	D	0	.	11.2791	0.49184	0.1825:0.8175:0.0:0.0	.	97	P61225	RAP2B_HUMAN	W	97	ENSP00000319096:R97W	ENSP00000319096:R97W	R	+	1	2	RAP2B	154363461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.066000	0.30604	2.324000	0.78689	0.563000	0.77884	CGG		0.617	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		T	152880771	C	T	152880771	3	4	23	1	0	0	0	0	1	0	0	0	13041	759	27	1	291	1	RAP2B	3	152880771	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	101190717	152880771	45141659	9	1466											
NLGN1	22871	broad.mit.edu	37	chr3	173998531	173998531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaactgacatcactttcaGacctacgagaaaaaattctg	16	10	5	10	1	4	3	3	1	1	2	4	4	4	3	1	0	2	0	1	0	5	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:173998531G>C	ENST00000457714.1	+	7	2339	c.1910G>C	c.(1909-1911)aGa>aCa	p.R637T	NLGN1_ENST00000361589.4_Missense_Mutation_p.R637T|NLGN1_ENST00000401917.3_Missense_Mutation_p.R677T|NLGN1_ENST00000545397.1_Missense_Mutation_p.R637T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	654					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCACTTTCAGACCTACGAGA	0.433																																						uc021xhm.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2029-2031)aGa>aCa		Homo sapiens neuroligin 1 (NLGN1), mRNA.							122	121	121					3																	173998531		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998531G>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1910G>C	3.37:g.173998531G>C	ENSP00000392500:p.Arg637Thr					NLGN1_uc003fio.1_Missense_Mutation_p.R637T|NLGN1_uc003fip.1_Missense_Mutation_p.R637T	p.R677T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2350	+	Ovarian(172;0.0025)		654					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2030G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893455	0.17613	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.17	5.59	5.59	0.84812	.	0.049426	0.85682	D	0.000000	T	0.42743	0.1216	N	0.12182	0.205	0.47374	D	0.999402	B	0.06786	0.001	B	0.09377	0.004	T	0.29971	-0.9994	10	0.21014	T	0.42	.	13.2118	0.59830	0.0729:0.0:0.9271:0.0	.	637	Q8N2Q7-2	.	T	637;637;637;677	ENSP00000392500:R637T;ENSP00000354541:R637T;ENSP00000441108:R637T;ENSP00000385750:R677T	ENSP00000354541:R637T	R	+	2	0	NLGN1	175481225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.090000	0.71397	2.793000	0.96121	0.655000	0.94253	AGA		0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		C	173998531	G	C	173998531	3	2	23	1	0	0	0	0	1	0	0	0	10461	942	33	5	1928	5	NLGN1	3	173998531	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	21117760	173998531	24023899	10	1467											
ALB	213	broad.mit.edu	37	chr4	74274453	74274453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaacccaaacctcccccGattggtgagaccagaggttg	11	7	10	13	1	0	3	0	2	0	2	1	5	1	3	5	2	2	1	5	2	2	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr4:74274453G>A	ENST00000295897.4	+	4	502	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R138Q|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCTCCCCCGATTGGTGAGA	0.398																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(412-414)cGa>cAa		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						76	74	74					4																	74274453		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274453G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.413G>A	4.37:g.74274453G>A	ENSP00000295897:p.Arg138Gln					ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.R28Q	p.R138Q	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	486	+	Breast(15;0.00102)		138		R -> G (in Yanomama-2).	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.413G>A	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.537985	0.27475	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.72505	-0.66;-0.66;-0.66	6.13	-0.554	0.11811	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.083900	0.07111	N	0.842224	T	0.46964	0.1420	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25779	-1.0122	10	0.28530	T	0.3	-1.7316	6.5204	0.22272	0.4107:0.4316:0.0924:0.0653	.	138;138	A6NBZ8;P02768	.;ALBU_HUMAN	Q	140;138;138;138;147	ENSP00000392541:R140Q;ENSP00000295897:R138Q;ENSP00000422784:R138Q	ENSP00000295897:R138Q	R	+	2	0	ALB	74493317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.450000	0.06803	-0.047000	0.13423	-0.140000	0.14226	CGA		0.398	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		A	74274453	G	A	74274453	3	1	23	1	0	0	0	0	1	0	0	0	486	1058	37	2	427	2	ALB	4	74274453	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		74274453	116879823	11	1468											
PCDHB5	26167	broad.mit.edu	37	chr5	140516934	140516934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcggccaagcacaggctgGtggtgctggtcaaggacaat	10	6	15	10	2	1	0	1	0	0	0	1	1	1	1	1	6	2	3	1	6	3	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr5:140516934G>A	ENST00000231134.5	+	1	2135	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGGCTGGTGGTGCTGGT	0.706																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1918-1920)Gtg>Atg		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							23	27	26					5																	140516934		2103	4097	6200	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516934G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1918G>A	5.37:g.140516934G>A	ENSP00000231134:p.Val640Met						p.V640M	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2135	+			640			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1918G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569837	0.45798	.	.	ENSG00000113209	ENST00000231134	T	0.53857	0.6	4.71	-2.79	0.05841	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66056	0.2751	M	0.85462	2.755	0.20563	N	0.999883	P	0.41498	0.752	P	0.48921	0.595	T	0.68800	-0.5313	9	0.87932	D	0	.	16.5697	0.84608	0.0917:0.1823:0.726:0.0	.	640	Q9Y5E4	PCDB5_HUMAN	M	640	ENSP00000231134:V640M	ENSP00000231134:V640M	V	+	1	0	PCDHB5	140497118	0.000000	0.05858	0.983000	0.44433	0.760000	0.43138	-4.989000	0.00162	-0.398000	0.07679	-0.690000	0.03725	GTG		0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		A	140516934	G	A	140516934	3	1	23	1	0	0	0	0	1	0	0	0	11545	1261	44	3	1920	3	PCDHB5	5	140516934	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		140516934	40398326	12	1469											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	23	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08		140453136	18685527	13	1470											
NFIB	4781	broad.mit.edu	37	chr9	14150145	14150145	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttctttcagtaccTgcttggtggagaagacagag	9	10	12	10	0	2	3	1	0	1	3	2	4	2	3	2	2	3	3	2	2	2	4			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:14150145T>C	ENST00000380959.3	-	5	1278	c.805A>G	c.(805-807)Agc>Ggc	p.S269G	NFIB_ENST00000380924.1_Splice_Site_p.S17G|NFIB_ENST00000380934.4_Splice_Site_p.S295G|NFIB_ENST00000397579.2_Splice_Site_p.S269G|NFIB_ENST00000380953.1_Splice_Site_p.S269G|NFIB_ENST00000543693.1_Splice_Site_p.S17G|NFIB_ENST00000397575.3_Splice_Site_p.S269G|NFIB_ENST00000397581.2_Splice_Site_p.S269G	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	269					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTTCAGTACCTGCTTGGTGGA	0.458			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc022bdo.1				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e5+1		Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.							261	267	265					9																	14150145		2203	4300	6503	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14150145T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.806+1A>G	9.37:g.14150145T>C						NFIB_uc003zld.3_Splice_Site_p.S17_splice|NFIB_uc003zlf.3_Splice_Site_p.S269_splice|NFIB_uc003zle.3_Splice_Site_p.S269_splice|NFIB_uc022bdp.1_Splice_Site_p.S295_splice|NFIB_uc011lmo.2_Splice_Site_p.S269_splice	p.S269_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	5	1341	-			269					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.806_splice	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394411	0.83011	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.35854	1.095	0.53688	D	0.99997	D;P;P;P	0.53885	0.963;0.596;0.508;0.877	D;B;P;P	0.67231	0.95;0.363;0.786;0.682	T	0.66783	-0.5836	10	0.87932	D	0	.	15.4719	0.75446	0.0:0.0:0.0:1.0	.	269;269;269;17	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	G	295;269;269;269;269;269;17;17	ENSP00000370321:S295G;ENSP00000370346:S269G;ENSP00000370340:S269G;ENSP00000380705:S269G;ENSP00000380711:S269G;ENSP00000380709:S269G;ENSP00000442888:S17G;ENSP00000370311:S17G	ENSP00000370311:S17G	S	-	1	0	NFIB	14140145	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.898000	0.75676	2.099000	0.63709	0.533000	0.62120	AGC		0.458	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Missense_Mutation	C	14150145	T	C	14150145	5	2	23	1	0	0	0	0	0	0	1	0	10371	1594	55	4	477	4	NFIB	9	14150145	Splice_Site	SNP	T	TCGA-06-0151-01A-01D-1491-08		14150145	127063286	14	1471											
FLJ46321	389763	broad.mit.edu	37	chr9	84609194	84609194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgtgtggcacagaagcAggagcccagggtccctacct	10	6	12	13	1	0	1	0	0	0	1	2	2	2	2	4	3	3	2	4	3	3	1			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:84609194A>G	ENST00000344803.2	+	4	3856	c.3809A>G	c.(3808-3810)cAg>cGg	p.Q1270R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1270					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCACAGAAGCAGGAGCCCAGG	0.537																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(3808-3810)cAg>cGg		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							89	88	88					9																	84609194		2000	4173	6173	SO:0001583	missense	389763					integral to membrane		g.chr9:84609194A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3809A>G	9.37:g.84609194A>G	ENSP00000341988:p.Gln1270Arg						p.Q1270R	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	3856	+			1270						Missense_Mutation	SNP	ENST00000344803.2	37	c.3809A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482343	0.44147	.	.	ENSG00000214929	ENST00000344803	T	0.08896	3.04	3.26	3.26	0.37387	.	.	.	.	.	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.59643	0.861	T	0.32188	-0.9916	9	0.21014	T	0.42	-9.9373	8.2441	0.31677	1.0:0.0:0.0:0.0	.	1270	Q6ZQQ2	F75D1_HUMAN	R	1270	ENSP00000341988:Q1270R	ENSP00000341988:Q1270R	Q	+	2	0	FAM75D1	83799014	0.029000	0.19370	0.012000	0.15200	0.003000	0.03518	1.372000	0.34261	1.729000	0.51567	0.533000	0.62120	CAG		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84609194	A	G	84609194	3	3	23	1	0	0	0	0	1	0	0	0	5932	188	7	4	3823	4	FLJ46321	9	84609194	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08	70459049	84609194	56604237	15	1472											
TNC	3371	broad.mit.edu	37	chr9	117844148	117844148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggagctagaccagtttgCcggtaagaggtctctggcct	8	9	13	11	1	1	2	0	0	1	2	2	3	1	3	4	4	2	3	4	4	2	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:117844148C>T	ENST00000350763.4	-	6	2718	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	TNC_ENST00000423613.2_Silent_p.R769R|TNC_ENST00000341037.4_Silent_p.R769R|TNC_ENST00000535648.1_Silent_p.R769R|TNC_ENST00000537320.1_Silent_p.R769R|TNC_ENST00000345230.3_Silent_p.R769R|TNC_ENST00000340094.3_Silent_p.R769R|TNC_ENST00000346706.3_Silent_p.R769R|TNC_ENST00000542877.1_Silent_p.R769R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	769	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCAGTTTGCCGGTAAGAGG	0.522																																						uc004bjj.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2305-2307)cgG>cgA		Homo sapiens tenascin C (TNC), mRNA.							107	105	106					9																	117844148		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117844148C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2307G>A	9.37:g.117844148C>T						TNC_uc010mvf.3_Silent_p.R769R|TNC_uc022bmj.1_Silent_p.R769R	p.R769R	NM_002160	NP_002151	P24821	TENA_HUMAN			5	2719	-			769			Fibronectin type-III 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.2307G>A	CCDS6811.1																																																																																				0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117844148	C	T	117844148	2	4	23	1	0	0	0	0	0	0	0	1	16267	726	26	3		3	TNC	9	117844148	Silent	SNP	C	TCGA-06-0151-01A-01D-1491-08	33234954	117844148	23369283	16	1473											
PRKCQ	5588	broad.mit.edu	37	chr10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgatcagtgctctgtcgGcaaatgacagccggggcttc	7	11	13	10	2	2	2	1	2	1	0	4	2	2	2	1	3	2	4	1	3	1	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGCTCTGTCGGCAAATGACAG	0.458																																					Ovarian(50;572 1126 10530 25349 30594)	uc001iji.1																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(2131-2133)gCc>gTc		Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.							204	213	210					10																	6470257		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6470257G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2033C>T	10.37:g.6470257G>A	ENSP00000263125:p.Ala678Val					PRKCQ_uc001ijj.2_Missense_Mutation_p.A678V|PRKCQ_uc009xim.2_Missense_Mutation_p.A615V|PRKCQ_uc009xin.2_Missense_Mutation_p.A642V|PRKCQ_uc010qax.2_Missense_Mutation_p.A553V	p.A711V	NM_006257	NP_006248	Q04759	KPCT_HUMAN			16	2216	-			678					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.2132C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.563|7.563	0.665173|0.665173	0.14710|0.14710	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.57107|.	0.42;0.42;0.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);|.	0.239518|.	0.42294|.	D|.	0.000736|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.02665|0.02665	-0.54|-0.54	0.20074|0.20074	N|N	0.999935|0.999935	B;B;P;B|.	0.40553|.	0.01;0.041;0.721;0.032|.	B;B;P;B|.	0.45310|.	0.006;0.009;0.476;0.028|.	T|T	0.16512|0.16512	-1.0400|-1.0400	10|5	0.14252|.	T|.	0.57|.	.|.	15.5307|15.5307	0.75960|0.75960	0.0:0.1384:0.8616:0.0|0.0:0.1384:0.8616:0.0	.|.	553;450;615;678|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|S	678;615;553|451	ENSP00000263125:A678V;ENSP00000380361:A615V;ENSP00000441752:A553V|.	ENSP00000263125:A678V|.	A|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6510263|6510263	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.066000|0.066000	0.16364|0.16364	5.083000|5.083000	0.64456|0.64456	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		A	6470257	G	A	6470257	3	1	23	1	0	0	0	0	1	0	0	0	12515	1203	42	3	91	3	PRKCQ	10	6470257	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		6470257	129064490	17	1474											
SF1	7536	broad.mit.edu	37	chr11	64537812	64537812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcttccagctttttgCgggtgcggaactctcgggtg	3	13	13	12	3	2	0	0	0	2	0	5	1	4	1	2	3	4	2	2	3	1	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr11:64537812C>T	ENST00000377390.3	-	4	642	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SF1_ENST00000334944.5_Missense_Mutation_p.R102H|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R227H|SF1_ENST00000377394.3_Missense_Mutation_p.R102H|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000433274.2_Missense_Mutation_p.R76H|SF1_ENST00000227503.9_Missense_Mutation_p.R102H	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	102					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R102H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGCTTTTTGCGGGTGCGGAA	0.547																																						uc001obb.2																			2	Substitution - Missense(2)	p.R102H(4)	kidney(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(304-306)cGc>cAc		Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.							129	127	128					11																	64537812		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537812C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.305G>A	11.37:g.64537812C>T	ENSP00000366607:p.Arg102His					SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Missense_Mutation_p.R76H|SF1_uc001oaz.2_Missense_Mutation_p.R227H|SF1_uc001oba.2_Missense_Mutation_p.R102H|SF1_uc001obd.2_Missense_Mutation_p.R102H|SF1_uc001obc.2_Missense_Mutation_p.R102H|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	p.R102H	NM_004630	NP_001171502	Q15637	SF01_HUMAN			3	757	-			102					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.305G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280256	0.80692	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.57907	0.37;0.4;0.44;0.56;0.39;0.39	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76575	0.988;0.982;0.973;0.988;0.988	T	0.80246	-0.1462	10	0.87932	D	0	.	17.8686	0.88804	0.0:1.0:0.0:0.0	.	102;102;102;102;227	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	H	227;102;102;102;102;76	ENSP00000366604:R227H;ENSP00000366607:R102H;ENSP00000227503:R102H;ENSP00000366611:R102H;ENSP00000334414:R102H;ENSP00000396793:R76H	ENSP00000227503:R102H	R	-	2	0	SF1	64294388	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.264000	0.78432	2.817000	0.96982	0.563000	0.77884	CGC		0.547	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		T	64537812	C	T	64537812	3	4	23	1	0	0	0	0	1	0	0	0	14145	768	27	1	1792	1	SF1	11	64537812	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08		64537812	70468704	18	1475											
KRT7	3855	broad.mit.edu	37	chr12	52639222	52639222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggaggccgccattgcCgaggctgaggagcgtgggga	8	6	19	8	3	0	1	0	1	0	0	0	5	0	4	3	6	2	2	3	6	1	2	rs368567294		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:52639222C>T	ENST00000331817.5	+	7	1194	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	337	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CCGCCATTGCCGAGGCTGAGG	0.662																																						uc001saa.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1009-1011)gcC>gcT		Homo sapiens keratin 7 (KRT7), mRNA.		C		0,4402		0,0,2201	26	28	27		1011	-8.8	0	12		27	1,8595		0,1,4297	no	coding-synonymous	KRT7	NM_005556.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		337/470	52639222	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639222C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1011C>T	12.37:g.52639222C>T							p.A337A	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	6	1138	+			337			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.1011C>T	CCDS8822.1																																																																																				0.662	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		T	52639222	C	T	52639222	2	4	23	1	0	0	0	0	0	0	0	1	8483	639	23	2		2	KRT7	12	52639222	Silent	SNP	C	TCGA-06-0151-01A-01D-1491-08		52639222	81212673	19	1476											
HOXC11	3227	broad.mit.edu	37	chr12	54367422	54367422	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accccagcgccccgcacgcaAcccccgccggcttctactcc	6	4	7	24	5	1	0	0	0	1	0	2	0	2	0	8	1	3	3	8	1	2	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:54367422A>C	ENST00000546378.1	+	1	513	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	HOXC11_ENST00000243082.4_Missense_Mutation_p.T133P|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	133					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CCCGCACGCAACCCCCGCCGG	0.642			T	NUP98	AML																																	uc001sem.3				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(397-399)Acc>Ccc		Homo sapiens homeobox C11 (HOXC11), mRNA.							72	94	87					12																	54367422		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367422A>C		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.397A>C	12.37:g.54367422A>C	ENSP00000446680:p.Thr133Pro						p.T133P	NM_014212	NP_055027	O43248	HXC11_HUMAN			0	513	+			133					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.397A>C	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	A	9.011	0.982542	0.18889	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.48836	0.8;0.8	4.31	2.48	0.30137	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.160447	0.56097	D	0.000030	T	0.19485	0.0468	N	0.02539	-0.55	0.24979	N	0.991619	B	0.02656	0.0	B	0.04013	0.001	T	0.16276	-1.0408	10	0.28530	T	0.3	.	7.9107	0.29789	0.2675:0.0:0.7325:0.0	.	133	O43248	HXC11_HUMAN	P	133	ENSP00000446680:T133P;ENSP00000243082:T133P	ENSP00000243082:T133P	T	+	1	0	HOXC11	52653689	0.202000	0.23423	0.770000	0.31555	0.986000	0.74619	1.137000	0.31479	0.562000	0.29204	-0.253000	0.11424	ACC		0.642	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			C	54367422	A	C	54367422	3	2	23	1	0	0	0	0	1	0	0	0	7310	43	2	5	399	5	HOXC11	12	54367422	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08	1728200	54367422	79484473	20	1477											
MYO1A	4640	broad.mit.edu	37	chr12	57431824	57431824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgaagagaactgacctCgctgctgatgctcattgggc	8	10	13	10	1	2	4	1	3	1	1	3	5	2	4	1	2	3	3	1	2	2	1			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:57431824C>T	ENST00000442789.2	-	19	2077	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R435Q|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.R597Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	597	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAACTGACCTCGCTGCTGATG	0.592																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1789-1791)cGa>cAa		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							96	77	84					12																	57431824		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431824C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1790G>A	12.37:g.57431824C>T	ENSP00000393392:p.Arg597Gln					MYO1A_uc010sqz.2_Missense_Mutation_p.R435Q|MYO1A_uc009zpd.3_Missense_Mutation_p.R597Q	p.R597Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			17	2030	-			597			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1790G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088092	0.55968	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71461	-0.57;-0.57;-0.57	5.13	-1.69	0.08186	Myosin head, motor domain (2);	0.683218	0.13959	N	0.350979	T	0.42223	0.1193	N	0.05124	-0.11	0.22947	N	0.998524	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.41790	T	0.15	.	5.4281	0.16438	0.0:0.3269:0.2269:0.4462	.	597	Q9UBC5	MYO1A_HUMAN	Q	597;597;435	ENSP00000300119:R597Q;ENSP00000393392:R597Q;ENSP00000440514:R435Q	ENSP00000300119:R597Q	R	-	2	0	MYO1A	55718091	0.000000	0.05858	0.901000	0.35422	0.949000	0.60115	-3.396000	0.00485	-0.046000	0.13446	-0.137000	0.14449	CGA		0.592	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		T	57431824	C	T	57431824	3	4	23	1	0	0	0	0	1	0	0	0	10068	884	31	2	1385	2	MYO1A	12	57431824	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	3064402	57431824	76420071	21	1478											
SELPLG	6404	broad.mit.edu	37	chr12	109017957	109017957	+	Frame_Shift_Del	DEL	C	C	-																															taggtactcatattcggtggCctgtctccggtcccgggcaa																										TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:109017957delC	ENST00000550948.1	-	2	351	c.127delG	c.(127-129)gccfs	p.A43fs	SELPLG_ENST00000228463.6_Frame_Shift_Del_p.A59fs|SELPLG_ENST00000388962.3_Frame_Shift_Del_p.A43fs			Q14242	SELPL_HUMAN	selectin P ligand	43					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TATTCGGTGGCCTGTCTCCGG	0.582																																						uc010sxe.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(175-177)gccfs		Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.							81	78	79					12																	109017957		2203	4300	6503	SO:0001589	frameshift_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017957delC		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.127delG	12.37:g.109017957delC	ENSP00000447752:p.Ala43fs					SELPLG_uc001tni.3_Frame_Shift_Del_p.A43fs|SELPLG_uc021rdm.1_Frame_Shift_Del_p.A43fs|SELPLG_uc001tnh.3_Frame_Shift_Del_p.A43fs	p.A59fs	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN			1	352	-			43					A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Frame_Shift_Del	DEL	ENST00000550948.1	37	c.175delG	CCDS31895.2																																																																																				0.582	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			-	109017957	C	-	109017957	7	5	23	1	0	1	0	1	0	0	0	0	14020	739	26	0	1089	0	SELPLG	12	109017957	Frame_Shift_Del	DEL	C	TCGA-06-0151-01A-01D-1491-08	51586133	109017957	24833938	22	1479											
FOXG1	2290	broad.mit.edu	37	chr14	29236962	29236988	+	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	GGGCGAGGGCGGCAAGGACGGGGAGGG	-																															ggggaggagaagaagggggcGggcgagggcggcaaggacgg																								rs375378714|rs148157138	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG	ENST00000313071.4	+	1	676_702	c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	c.(475-504)gcgggcgagggcggcaaggacggggagggg>gcg	p.GEGGKDGEG160del	FOXG1_ENST00000382535.3_In_Frame_Del_p.GEGGKDGEG160del|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	160	Gly-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G166G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agaagggggcgggcgagggcggcaaggacggggaggggggcaaggag	0.727																																						uc001wqe.3																			1	Substitution - coding silent(1)	p.G166G(2)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(475-504)gcgggcgagggcggcaaggacggggagggg>gcg		Homo sapiens forkhead box G1 (FOXG1), mRNA.																																				SO:0001651	inframe_deletion	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	14.37:g.29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG	ENSP00000339004:p.Gly160_Gly168del						p.GEGGKDGEG160del	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	0	676_702	+			160			Gly-rich.		A6NFY2|P55315|Q14488|Q86XT7	In_Frame_Del	DEL	ENST00000313071.4	37	c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	CCDS9636.1																																																																																				0.727	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			-	29236988	GGGCGAGGGCGGCAAGGACGGGGAGGG	-	29236962	7	5	23	1	0	1	0	1	0	0	0	0	6007	1103	39	0	479	0	FOXG1	14	29236962	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	TCGA-06-0151-01A-01D-1491-08		29236962	78112578	23	1480											
KRT222	125113	broad.mit.edu	37	chr17	38812794	38812794	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctaaatgaagatcaaatcGaagagaaacagactttttcc	17	10	7	7	1	1	4	1	1	0	3	3	6	2	4	1	0	2	1	1	0	6	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr17:38812794G>A	ENST00000476049.1	-	6	789	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.R250*			Q8N1A0	KT222_HUMAN	keratin 222	250						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGATCAAATCGAAGAGAAACA	0.368																																						uc002hvc.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(748-750)Cga>Tga		Homo sapiens keratin 222 (KRT222), mRNA.							96	91	93					17																	38812794		2203	4300	6503	SO:0001587	stop_gained	125113					intermediate filament	structural molecule activity	g.chr17:38812794G>A	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"-"	28695	protein-coding gene	gene with protein product			"keratin 222 pseudogene"	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.748C>T	17.37:g.38812794G>A	ENSP00000463483:p.Arg250*					KRT222_uc002hvb.2_Nonsense_Mutation_p.R210*	p.R250*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			5	813	-			250					Q7Z368	Nonsense_Mutation	SNP	ENST00000476049.1	37	c.748C>T	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761828	0.89932	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	.	.	.	5.93	4.93	0.64822	.	0.281924	0.29861	U	0.011018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3576	14.1622	0.65454	0.0:0.0:0.7305:0.2695	.	.	.	.	X	210;250	.	ENSP00000377613:R210X	R	-	1	2	KRT222	36066320	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.996000	0.70639	2.818000	0.97014	0.591000	0.81541	CGA		0.368	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		A	38812794	G	A	38812794	4	1	23	1	0	0	0	0	0	1	0	0	8459	1066	37	2	143	2	KRT222	17	38812794	Nonsense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		38812794	42382416	24	1481											
ACPT	93650	broad.mit.edu	37	chr19	51295399	51295399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaggccaccgaggccgccGagtaccaggaggccctggag	8	2	18	13	3	0	0	0	0	0	0	0	5	0	3	6	6	1	1	6	6	1	1	rs201115271		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:51295399G>A	ENST00000270593.1	+	5	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	174						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGAGGCCGCCGAGTACCAGGA	0.706													G|||	1	0.000199681	8e-04	0	5008	,	,		11906	0		0	False		,,,				2504	0					uc002pta.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(520-522)Gag>Aag		Homo sapiens acid phosphatase, testicular (ACPT), mRNA.							17	18	18					19																	51295399		2197	4298	6495	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295399G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.520G>A	19.37:g.51295399G>A	ENSP00000270593:p.Glu174Lys						p.E174K	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	520	+		all_neural(266;0.057)	174					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.520G>A	CCDS12802.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	15.68	2.905402	0.52333	.	.	ENSG00000142513	ENST00000270593	T	0.19938	2.11	4.39	4.39	0.52855	.	0.607857	0.15860	N	0.241053	T	0.18759	0.0450	L	0.52266	1.64	0.80722	D	1	P	0.36535	0.557	B	0.25987	0.065	T	0.07404	-1.0774	10	0.72032	D	0.01	-9.9568	12.8365	0.57775	0.0:0.0:1.0:0.0	.	174	Q9BZG2	PPAT_HUMAN	K	174	ENSP00000270593:E174K	ENSP00000270593:E174K	E	+	1	0	ACPT	55987211	0.770000	0.28543	0.881000	0.34555	0.716000	0.41182	1.387000	0.34430	2.178000	0.69098	0.455000	0.32223	GAG		0.706	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		A	51295399	G	A	51295399	3	1	23	1	0	0	0	0	1	0	0	0	168	1059	37	2	538	2	ACPT	19	51295399	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		51295399	7833584	25	1482											
ZNF470	388566	broad.mit.edu	37	chr19	57089037	57089037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatcacataggacttattCagcataagagaactcatact	15	11	6	9	0	3	2	3	1	0	1	3	4	3	3	0	1	3	1	0	1	5	5			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:57089037C>T	ENST00000330619.8	+	6	1926	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ZNF470_ENST00000391709.3_Nonsense_Mutation_p.Q414*|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGGACTTATTCAGCATAAGAG	0.413																																						uc002qnl.4																			0		p.I413F(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1240-1242)Cag>Tag		Homo sapiens zinc finger protein 470 (ZNF470), mRNA.							83	84	84					19																	57089037		2203	4300	6503	SO:0001587	stop_gained	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089037C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1240C>T	19.37:g.57089037C>T	ENSP00000333223:p.Gln414*					ZNF470_uc010etn.3_Intron	p.Q414*	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	5	1916	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	414					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Nonsense_Mutation	SNP	ENST00000330619.8	37	c.1240C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	39	7.451041	0.98292	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	.	.	.	4.26	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	5.0482	0.14494	0.4142:0.4794:0.0:0.1064	.	.	.	.	X	414	.	ENSP00000333223:Q414X	Q	+	1	0	ZNF470	61780849	0.000000	0.05858	0.994000	0.49952	0.506000	0.33950	-1.261000	0.02855	2.212000	0.71576	0.650000	0.86243	CAG		0.413	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		T	57089037	C	T	57089037	4	4	23	1	0	0	0	0	0	1	0	0	17926	827	29	3	1254	3	ZNF470	19	57089037	Nonsense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	5793638	57089037	2039946	26	1483											
UMODL1	89766	broad.mit.edu	37	chr21	43519223	43519223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctggaggctggagtgctGtacagggtgaagaccagcta	9	7	18	7	0	0	2	0	1	0	1	0	4	0	4	1	5	3	5	1	5	3	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:43519223G>A	ENST00000408910.2	+	7	1119	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	UMODL1_ENST00000400427.1_Silent_p.L301L|UMODL1_ENST00000408989.2_Silent_p.L373L|UMODL1_ENST00000400424.2_Silent_p.L301L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	373	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGTGCTGTACAGGGTGA	0.612																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1117-1119)ctG>ctA		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							44	52	49					21																	43519223		2122	4232	6354	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519223G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1119G>A	21.37:g.43519223G>A						UMODL1_uc002zad.1_Silent_p.L301L|UMODL1_uc002zae.1_Silent_p.L301L|UMODL1_uc002zaf.1_Silent_p.L373L|UMODL1_uc010gow.1_Silent_p.L165L|UMODL1_uc002zai.1_Silent_p.L24L|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Silent_p.L24L|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.L118L	p.L373L	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			6	1119	+			373			Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1119G>A	CCDS42936.1																																																																																				0.612	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43519223	G	A	43519223	2	1	23	1	0	0	0	0	0	0	0	1	16977	1364	48	3		3	UMODL1	21	43519223	Silent	SNP	G	TCGA-06-0151-01A-01D-1491-08		43519223	4610672	27	1484											
ITGB2	3689	broad.mit.edu	37	chr21	46330269	46330269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgaccttgaacttcGtgcactcctgagagaggact	9	10	11	11	1	0	4	0	3	0	1	2	6	1	5	2	1	4	3	2	1	1	2	rs148038936		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:46330269G>A	ENST00000397850.2	-	4	529	c.77C>T	c.(76-78)aCg>aTg	p.T26M	ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000397857.1_Missense_Mutation_p.T26M|ITGB2_ENST00000302347.5_Missense_Mutation_p.T26M|ITGB2_ENST00000397854.3_Missense_Mutation_p.T26M|ITGB2_ENST00000397852.1_Missense_Mutation_p.T26M|ITGB2_ENST00000355153.4_Missense_Mutation_p.T26M|ITGB2_ENST00000397846.3_Missense_Mutation_p.T26M			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	26					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTTGAACTTCGTGCACTCCTG	0.657																																						uc002zgd.2																			0		p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(76-78)aCg>aTg		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						54	50	51					21																	46330269		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46330269G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.77C>T	21.37:g.46330269G>A	ENSP00000380948:p.Thr26Met					ITGB2_uc002zgf.3_Missense_Mutation_p.T26M|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.T26M|ITGB2_uc002zgg.2_Missense_Mutation_p.T26M	p.T26M	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	1	121	-			26					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.77C>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604548	0.28623	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216;ENST00000523663;ENST00000522931;ENST00000517563;ENST00000517819;ENST00000397846;ENST00000521995	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.52	1.59	0.23543	.	.	.	.	.	T	0.75620	0.3874	N	0.08118	0	0.29504	N	0.854672	D;P	0.64830	0.994;0.61	P;P	0.51999	0.687;0.505	T	0.69094	-0.5236	9	0.48119	T	0.1	.	6.482	0.22067	0.0893:0.0:0.5925:0.3182	.	26;26	A8MYE6;P05107	.;ITB2_HUMAN	M	26;26;26;26;26;26;26;17;26;26;26;26;26;26	ENSP00000380950:T26M;ENSP00000380955:T26M;ENSP00000380952:T26M;ENSP00000347279:T26M;ENSP00000380948:T26M;ENSP00000303242:T26M;ENSP00000317697:T17M;ENSP00000428503:T26M;ENSP00000428979:T26M;ENSP00000428413:T26M;ENSP00000428870:T26M;ENSP00000380944:T26M;ENSP00000429683:T26M	ENSP00000303242:T26M	T	-	2	0	ITGB2	45154697	1.000000	0.71417	0.038000	0.18304	0.082000	0.17680	1.401000	0.34589	0.017000	0.15025	0.563000	0.77884	ACG		0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		A	46330269	G	A	46330269	3	1	23	1	0	0	0	0	1	0	0	0	7894	1145	40	1	2288	1	ITGB2	21	46330269	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	2811046	46330269	1799626	28	1485											
SLC35E4	339665	broad.mit.edu	37	chr22	31042730	31042730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggcgactctcgcctctgGgcctgcatcctgctcagctg	3	10	12	16	2	3	0	1	0	2	0	5	1	4	0	3	2	3	4	3	2	0	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr22:31042730G>T	ENST00000343605.4	+	2	1564	c.765G>T	c.(763-765)tgG>tgT	p.W255C	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	255	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCGCCTCTGGGCCTGCATCC	0.677																																						uc003ais.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(763-765)tgG>tgT		Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.							52	38	43					22																	31042730		2203	4300	6503	SO:0001583	missense	339665					integral to membrane		g.chr22:31042730G>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.765G>T	22.37:g.31042730G>T	ENSP00000339626:p.Trp255Cys					SLC35E4_uc003ait.3_Intron	p.W255C	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			1	1410	+			255			Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.765G>T	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105593	0.77096	.	.	ENSG00000100036	ENST00000343605	T	0.62788	0.0	5.02	5.02	0.67125	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76454	-0.2953	10	0.40728	T	0.16	-8.7361	17.4897	0.87700	0.0:0.0:1.0:0.0	.	255	Q6ICL7	S35E4_HUMAN	C	255	ENSP00000339626:W255C	ENSP00000339626:W255C	W	+	3	0	SLC35E4	29372730	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.317000	0.96327	2.515000	0.84797	0.561000	0.74099	TGG		0.677	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		T	31042730	G	T	31042730	3	4	23	1	0	0	0	0	1	0	0	0	14587	1241	43	5	771	5	SLC35E4	22	31042730	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		31042730	20261836	29	1486											
DNAJC16	23341	broad.mit.edu	37	chr1	15888817	15888817	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgtttcaagggaaatcAgcggtaagccacagagtctc	12	7	13	9	2	3	1	2	0	1	1	4	3	3	2	1	3	2	2	1	3	3	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:15888817A>C	ENST00000375847.3	+	9	1499	c.1335A>C	c.(1333-1335)tcA>tcC	p.S445S	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Silent_p.S445S|DNAJC16_ENST00000375838.1_Silent_p.S445S	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	445					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGGGAAATCAGCGGTAAGCC	0.473																																						uc001aws.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(1333-1335)tcA>tcC		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.							98	88	91					1																	15888817		2203	4300	6503	SO:0001819	synonymous_variant	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15888817A>C	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1335A>C	1.37:g.15888817A>C						DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.3_Silent_p.S133S|DNAJC16_uc001awu.3_Non-coding_Transcript	p.S445S	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	8	1455	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	445					Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	c.1335A>C	CCDS30606.1																																																																																				0.473	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		C	15888817	A	C	15888817	2	2	24	1	0	0	0	0	0	0	0	1	4635	175	7	5		5	DNAJC16	1	15888817	Silent	SNP	A	TCGA-06-0152-01A-02W-0323-08		15888817	233361804	1	1487											
DOCK7	85440	broad.mit.edu	37	chr1	62993826	62993826	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggattgtttttaccgttGacgtgaggaggaaactgcca	10	11	14	6	2	0	2	0	2	0	0	0	6	0	6	2	4	3	2	2	4	2	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:62993826G>C	ENST00000340370.5	-	30	3856	c.3839C>G	c.(3838-3840)tCa>tGa	p.S1280*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.S1311*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1311					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTACCGTTGACGTGAGGAG	0.423																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(3931-3933)tCa>tGa		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							110	95	100					1																	62993826		2203	4300	6503	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62993826G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3839C>G	1.37:g.62993826G>C	ENSP00000340742:p.Ser1280*					DOCK7_uc001dan.3_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.3_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.3_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.3_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron	p.S1311*	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			30	3966	-			1311					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.3932C>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	43	10.415395	0.99401	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	.	.	.	5.46	5.46	0.80206	.	0.233301	0.38272	N	0.001749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.318	0.94224	0.0:0.0:1.0:0.0	.	.	.	.	X	1311;1311;1280	.	ENSP00000251157:S1311X	S	-	2	0	DOCK7	62766414	1.000000	0.71417	0.981000	0.43875	0.969000	0.65631	8.810000	0.91950	2.557000	0.86248	0.555000	0.69702	TCA		0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		C	62993826	G	C	62993826	4	2	24	1	0	0	0	0	0	1	0	0	4692	1294	45	5	2570	5	DOCK7	1	62993826	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	47105009	62993826	186256795	2	1488											
OR10J1	26476	broad.mit.edu	37	chr1	159410403	159410403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgaccagctgatctcGgtgacctacactgtcatcac	11	9	8	13	1	3	3	2	3	1	0	4	4	3	3	2	1	3	1	2	1	2	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:159410403G>A	ENST00000423932.3	+	1	892	c.855G>A	c.(853-855)tcG>tcA	p.S285S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	285					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGCTGATCTCGGTGACCTACA	0.517																																						uc010piv.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(853-855)tcG>tcA		Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.							164	132	143					1																	159410403		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410403G>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.855G>A	1.37:g.159410403G>A						BC038194_uc001fts.4_Intron	p.S285S	NM_012351	NP_036483	P30954	O10J1_HUMAN			0	892	+	all_hematologic(112;0.0429)		285					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.855G>A	CCDS1185.1																																																																																				0.517	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		A	159410403	G	A	159410403	2	1	24	1	0	0	0	0	0	0	0	1	10910	1103	39	2		2	OR10J1	1	159410403	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	96416577	159410403	89840218	3	1489											
ATP1A4	480	broad.mit.edu	37	chr1	160144388	160144388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccgttgtggccgtgaCaggtgacggggtgaacgact	7	7	19	8	4	0	3	0	3	0	0	0	5	0	4	2	5	2	1	2	5	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:160144388C>A	ENST00000368081.4	+	15	2633	c.2162C>A	c.(2161-2163)aCa>aAa	p.T721K	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_5'Flank	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	721					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.T721I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGCCGTGACAGGTGACGGG	0.542																																						uc001fve.4																			1	Substitution - Missense(1)	p.T721I(2)|p.V720L(1)|p.V720M(1)	breast(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2161-2163)aCa>aAa		Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.							104	82	89					1																	160144388		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160144388C>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2162C>A	1.37:g.160144388C>A	ENSP00000357060:p.Thr721Lys					ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.3_5'Flank	p.T721K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	2641	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		721					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2162C>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013319	0.75161	.	.	ENSG00000132681	ENST00000368081	D	0.96396	-4.0	4.2	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98805	1.0741	10	0.87932	D	0	.	14.4423	0.67325	0.0:1.0:0.0:0.0	.	721	Q13733	AT1A4_HUMAN	K	721	ENSP00000357060:T721K	ENSP00000357060:T721K	T	+	2	0	ATP1A4	158411012	1.000000	0.71417	0.917000	0.36280	0.584000	0.36387	7.623000	0.83113	2.336000	0.79503	0.609000	0.83330	ACA		0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160144388	C	A	160144388	3	1	24	1	0	0	0	0	1	0	0	0	1131	478	17	5	2220	5	ATP1A4	1	160144388	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	733985	160144388	89106233	4	1490											
SLC9A11	284525	broad.mit.edu	37	chr1	173505000	173505000	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtatcttttctatacAatattccaagaaagttaaaa	19	14	3	5	0	2	1	0	0	2	1	3	1	3	1	1	0	1	2	1	0	11	8			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:173505000A>C	ENST00000367714.3	-	15	2166	c.1744T>G	c.(1744-1746)Tgt>Ggt	p.C582G	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	582					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTTTCTATACAATATTCCAAG	0.264																																						uc001giz.2																			0											c.(1744-1746)Tgt>Ggt		Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.							32	38	36					1																	173505000		2146	4210	6356	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173505000A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1744T>G	1.37:g.173505000A>C	ENSP00000356687:p.Cys582Gly					SLC9C2_uc009wwe.2_Missense_Mutation_p.C140G|SLC9C2_uc010pmq.1_Intron	p.C582G	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			14	2167	-			582					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1744T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	2.199	-0.383555	0.04966	.	.	ENSG00000162753	ENST00000367714	T	0.04049	3.72	5.81	1.42	0.22433	.	1.548580	0.03640	N	0.239269	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46275	-0.9203	10	0.26408	T	0.33	-1.1371	3.2893	0.06943	0.0845:0.1459:0.4383:0.3313	.	582	Q5TAH2	S9A11_HUMAN	G	582	ENSP00000356687:C582G	ENSP00000356687:C582G	C	-	1	0	SLC9A11	171771623	0.775000	0.28604	0.033000	0.17914	0.001000	0.01503	0.791000	0.26915	0.317000	0.23160	-0.186000	0.12905	TGT		0.264	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		C	173505000	A	C	173505000	3	2	24	1	0	0	0	0	1	0	0	0	14711	130	5	5	1686	5	SLC9A11	1	173505000	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08	13360612	173505000	75745621	5	1491											
HMCN1	83872	broad.mit.edu	37	chr1	186017944	186017945	+	Frame_Shift_Ins	INS	-	-	A																															aaatgttgctggaaaaactgINSaaaaaaactacaatgtcaac																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:186017944_186017945insA	ENST00000271588.4	+	42	6779_6780	c.6550_6551insA	c.(6550-6552)gaafs	p.E2184fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.E2184fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2184	Ig-like C2-type 19.			E -> EK (in Ref. 1). {ECO:0000305}.	response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAAAAACTGAAAAAAACTAC	0.361																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6550-6552)gaafs		Homo sapiens hemicentin 1 (HMCN1), mRNA.																																				SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017944_186017945insA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6557dupA	1.37:g.186017951_186017951dupA	ENSP00000271588:p.Glu2184fs						p.E2184fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			41	6779_6780	+			2184	E -> EK (in Ref. 1).		Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	ENST00000271588.4	37	c.6550_6551insA	CCDS30956.1																																																																																				0.361	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186017945	-	A	186017944	7	5	24	1	0	1	1	0	0	0	0	0	7220	1291	45	0	6716	0	HMCN1	1	186017944	Frame_Shift_Ins	INS	-	TCGA-06-0152-01A-02W-0323-08	12512944	186017944	63232677	6	1492											
AIDA	64853	broad.mit.edu	37	chr1	222860999	222860999	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatgtaagaatattctttagGactagaataagaagataaag	19	12	8	2	0	1	4	0	0	1	4	1	5	1	5	0	1	0	1	0	1	11	9			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:222860999G>C	ENST00000340020.6	-	5	497	c.291C>G	c.(289-291)atC>atG	p.I97M	AIDA_ENST00000541237.1_Splice_Site_p.I73M|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Splice_Site_p.I97M	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	97					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TATTCTTTAGGACTAGAATAA	0.224																																						uc001hnn.3																			0				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.e5-1		Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.							36	41	40					1																	222860999		2087	4131	6218	SO:0001630	splice_region_variant	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222860999G>C	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.290-1C>G	1.37:g.222860999G>C						AIDA_uc001hno.3_Splice_Site|AIDA_uc010pus.2_Splice_Site_p.I73_splice	p.I97_splice	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			5	495	-			97					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.290_splice	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889506	0.33348	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.87	2.96	0.34315	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.41236	1.265	0.44289	D	0.997153	D;P	0.54397	0.966;0.944	D;P	0.69654	0.965;0.89	T	0.52094	-0.8621	9	0.41790	T	0.15	.	5.3435	0.15996	0.2717:0.0:0.5965:0.1318	.	73;97	F5H715;Q96BJ3	.;AIDA_HUMAN	M	97;97;73	.	ENSP00000339161:I97M	I	-	3	3	AIDA	220927622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.365000	0.34182	0.466000	0.27193	-0.140000	0.14226	ATC		0.224	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831	Missense_Mutation	C	222860999	G	C	222860999	5	2	24	1	0	0	0	0	0	0	1	0	423	1188	41	5	653	5	AIDA	1	222860999	Splice_Site	SNP	G	TCGA-06-0152-01A-02W-0323-08	36843055	222860999	26389622	7	1493											
FEZ2	9637	broad.mit.edu	37	chr2	36810520	36810520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgtgaagaggggttcAtcattaacacaggagacgat	12	9	12	8	2	3	3	2	1	1	2	3	5	3	3	1	3	2	1	1	3	2	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:36810520A>C	ENST00000405912.3	-	3	467	c.468T>G	c.(466-468)gaT>gaG	p.D156E	FEZ2_ENST00000379245.4_Missense_Mutation_p.D156E|FEZ2_ENST00000305852.7_5'UTR	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	156					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AGAGGGGTTCATCATTAACAC	0.438																																						uc002rpg.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7						c.(466-468)gaT>gaG		Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.							157	148	151					2																	36810520		1938	4144	6082	SO:0001583	missense	9637				axon guidance|signal transduction		protein binding	g.chr2:36810520A>C	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.468T>G	2.37:g.36810520A>C	ENSP00000385112:p.Asp156Glu					FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rph.2_Missense_Mutation_p.D156E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E	p.D156E	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN			2	515	-		all_hematologic(82;0.21)	156					Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	c.468T>G	CCDS46257.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.355987	0.01245	.	.	ENSG00000171055	ENST00000379245;ENST00000405912;ENST00000357996	T;T;T	0.26660	1.72;1.72;1.72	5.77	-11.5	0.00074	.	0.385535	0.31519	N	0.007505	T	0.04227	0.0117	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.50268	-0.8848	10	0.02654	T	1	-15.5423	1.3944	0.02257	0.4401:0.1035:0.156:0.3004	.	156;156;156	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	E	156;156;55	ENSP00000368547:D156E;ENSP00000385112:D156E;ENSP00000350685:D55E	ENSP00000350685:D55E	D	-	3	2	FEZ2	36664024	0.026000	0.19158	0.022000	0.16811	0.013000	0.08279	-0.743000	0.04845	-1.838000	0.01187	-1.001000	0.02504	GAT		0.438	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			C	36810520	A	C	36810520	3	2	24	1	0	0	0	0	1	0	0	0	5824	214	8	5	702	5	FEZ2	2	36810520	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08		36810520	206388853	8	1494											
CD8A	925	broad.mit.edu	37	chr2	87013056	87013056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggttagacgtatctcGccgaaaggctgggcttgtct	8	10	13	10	3	2	1	0	0	2	1	3	2	2	1	1	3	0	4	1	3	3	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:87013056G>A	ENST00000409511.2	-	9	1725	c.695C>T	c.(694-696)gCg>gTg	p.A232V	CD8A_ENST00000283635.3_Missense_Mutation_p.A232V|CD8A_ENST00000409781.1_Missense_Mutation_p.A195V|CD8A_ENST00000538832.1_Missense_Mutation_p.A273V|CD8A_ENST00000456996.2_Missense_Mutation_p.A195V|CD8A_ENST00000352580.3_Missense_Mutation_p.A195V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	232					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACGTATCTCGCCGAAAGGCT	0.507																																						uc002srt.3																			0				lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.(694-696)gCg>gTg		Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.							187	182	184					2																	87013056		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013056G>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.695C>T	2.37:g.87013056G>A	ENSP00000386559:p.Ala232Val					RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Missense_Mutation_p.A232V|CD8A_uc010ytn.2_Missense_Mutation_p.A273V|CD8A_uc002sru.3_Missense_Mutation_p.A195V	p.A232V	NM_001768	NP_001759	P01732	CD8A_HUMAN			5	1584	-			232					B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.695C>T	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868240	0.72065	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.08;-1.08;-1.13;-1.09	4.03	2.88	0.33553	.	0.692087	0.15139	N	0.278366	T	0.51398	0.1672	N	0.08118	0	0.09310	N	1	B;B;B	0.31241	0.003;0.002;0.315	B;B;B	0.15870	0.0;0.001;0.014	T	0.43360	-0.9396	10	0.52906	T	0.07	-18.0343	4.2044	0.10481	0.0:0.1065:0.2083:0.6852	.	273;195;232	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	V	195;195;232;232;217;273;195	ENSP00000398868:A195V;ENSP00000321631:A195V;ENSP00000283635:A232V;ENSP00000386559:A232V;ENSP00000438371:A273V;ENSP00000387314:A195V	ENSP00000283635:A232V	A	-	2	0	CD8A	86866567	0.046000	0.20272	0.007000	0.13788	0.003000	0.03518	0.277000	0.18734	0.373000	0.24621	-0.256000	0.11100	GCG		0.507	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		A	87013056	G	A	87013056	3	1	24	1	0	0	0	0	1	0	0	0	3044	1087	38	1	16	1	CD8A	2	87013056	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	50202536	87013056	156186317	9	1495											
TRIM43	129868	broad.mit.edu	37	chr2	96262159	96262159	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaatggaaatgtgtcataaAccagatgtggagctgctcca	13	10	10	8	0	1	1	1	0	0	1	2	3	2	3	2	2	3	2	2	2	4	2	rs149986492	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:96262159A>T	ENST00000272395.2	+	4	853	c.717A>T	c.(715-717)aaA>aaT	p.K239N		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	239						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGTGTCATAAACCAGATGTGG	0.413																																						uc002suv.3																			0				breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(715-717)aaA>aaT		Homo sapiens tripartite motif containing 43 (TRIM43), mRNA.							72	60	64					2																	96262159		2199	4288	6487	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96262159A>T	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.717A>T	2.37:g.96262159A>T	ENSP00000272395:p.Lys239Asn						p.K239N	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			3	853	+			239					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.717A>T	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	16.21	3.059410	0.55325	.	.	ENSG00000144015	ENST00000272395	T	0.04706	3.57	1.33	1.33	0.21861	.	.	.	.	.	T	0.13543	0.0328	M	0.73217	2.22	0.22017	N	0.999412	D	0.62365	0.991	D	0.65773	0.938	T	0.14282	-1.0478	9	0.33141	T	0.24	-19.3978	4.9479	0.13999	1.0:0.0:0.0:0.0	.	239	Q96BQ3	TRI43_HUMAN	N	239	ENSP00000272395:K239N	ENSP00000272395:K239N	K	+	3	2	TRIM43	95625886	0.020000	0.18652	0.775000	0.31657	0.577000	0.36160	0.446000	0.21694	0.903000	0.36546	0.308000	0.20428	AAA		0.413	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		T	96262159	A	T	96262159	3	4	24	1	0	0	0	0	1	0	0	0	16515	40	2	5	727	5	TRIM43	2	96262159	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08	9249103	96262159	146937214	10	1496											
GPR148	344561	broad.mit.edu	37	chr2	131486773	131486773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcactacagcttggccgGccctgatccagctcatcagc	7	8	11	15	1	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	1	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:131486773G>A	ENST00000309926.4	+	1	131	c.49G>A	c.(49-51)Gcc>Acc	p.A17T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTTGGCCGGCCCTGATCCA	0.612																																						uc002trv.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(49-51)Gcc>Acc		Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.							100	99	99					2																	131486773		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486773G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.49G>A	2.37:g.131486773G>A	ENSP00000308908:p.Ala17Thr						p.A17T	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			0	131	+	Colorectal(110;0.1)		17					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.49G>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	5.215	0.225126	0.09916	.	.	ENSG00000173302	ENST00000309926	T	0.07444	3.19	2.41	1.51	0.23008	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.47636	-0.9102	9	0.13470	T	0.59	0.0256	4.9326	0.13925	0.1753:0.0:0.8247:0.0	.	17	Q8TDV2	GP148_HUMAN	T	17	ENSP00000308908:A17T	ENSP00000308908:A17T	A	+	1	0	GPR148	131203243	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.936000	0.28938	0.582000	0.29556	0.462000	0.41574	GCC		0.612	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		A	131486773	G	A	131486773	3	1	24	1	0	0	0	0	1	0	0	0	6653	1203	42	3	51	3	GPR148	2	131486773	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	35224614	131486773	111712600	11	1497											
DLEC1	9940	broad.mit.edu	37	chr3	38104257	38104257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccaaagaagccagcaccGataggagaattccagagtac	15	5	9	12	1	0	3	0	0	0	3	2	5	2	3	5	1	3	2	5	1	5	3	rs181613667	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:38104257G>A	ENST00000308059.6	+	5	1080	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	DLEC1_ENST00000346219.3_Silent_p.P353P|DLEC1_ENST00000452631.2_Silent_p.P353P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCCAGCACCGATAGGAGAAT	0.463													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		19943	0.001		0	False		,,,				2504	0					uc003chp.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1057-1059)ccG>ccA		Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.		G	,	7,3693		0,7,1843	70	68	69		1059,1059	0.6	0	3		69	0,8188		0,0,4094	no	coding-synonymous,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,7,5937	AA,AG,GG		0.0,0.1892,0.0589	,	353/1756,353/1779	38104257	7,11881	1850	4094	5944	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104257G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1059G>A	3.37:g.38104257G>A						DLEC1_uc003cho.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_Non-coding_Transcript	p.P353P	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	4	1080	+			353						Silent	SNP	ENST00000308059.6	37	c.1059G>A	CCDS2672.2																																																																																				0.463	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		A	38104257	G	A	38104257	2	1	24	1	0	0	0	0	0	0	0	1	4552	1045	37	2		2	DLEC1	3	38104257	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		38104257	159918173	12	1498											
ULK4	54986	broad.mit.edu	37	chr3	41953077	41953077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaccactcttgtgccctTttgcttgtctactctgagag	5	16	9	11	0	3	2	0	2	3	1	3	3	3	2	2	0	3	2	2	0	1	6			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:41953077T>G	ENST00000301831.4	-	10	1433	c.971A>C	c.(970-972)aAa>aCa	p.K324T	ULK4_ENST00000420927.1_Missense_Mutation_p.K324T	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	324					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTGTGCCCTTTTGCTTGTCT	0.413																																						uc003ckv.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(970-972)aAa>aCa		Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.							143	134	137					3																	41953077		1879	4105	5984	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41953077T>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.971A>C	3.37:g.41953077T>G	ENSP00000301831:p.Lys324Thr					ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T	p.K324T	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	9	1172	-			324					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.971A>C	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	6.203	0.405575	0.11754	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.67698	0.55;-0.28	5.08	-0.204	0.13200	.	1.559330	0.03182	N	0.172260	T	0.53642	0.1809	L	0.45137	1.4	0.09310	N	1	B;B	0.22276	0.067;0.03	B;B	0.20577	0.03;0.007	T	0.14392	-1.0474	10	0.26408	T	0.33	.	1.032	0.01540	0.1325:0.2033:0.2644:0.3997	.	324;324	B4E2M4;Q96C45	.;ULK4_HUMAN	T	324	ENSP00000301831:K324T;ENSP00000412187:K324T	ENSP00000301831:K324T	K	-	2	0	ULK4	41928081	0.000000	0.05858	0.038000	0.18304	0.129000	0.20672	0.061000	0.14366	-0.017000	0.14103	0.454000	0.30748	AAA		0.413	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		G	41953077	T	G	41953077	3	3	24	1	0	0	0	0	1	0	0	0	16975	1841	64	5	2968	5	ULK4	3	41953077	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	3848820	41953077	156069353	13	1499											
LRBA	987	broad.mit.edu	37	chr4	151788860	151788860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgtctacccatacaCgccagccaccccactcatat	13	8	4	16	1	2	0	1	0	1	0	2	0	2	0	5	0	3	0	5	0	5	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr4:151788860C>T	ENST00000357115.3	-	22	2972	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	LRBA_ENST00000507224.1_Missense_Mutation_p.R910H|LRBA_ENST00000535741.1_Missense_Mutation_p.R910H|LRBA_ENST00000510413.1_Missense_Mutation_p.R910H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	910						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCATACACGCCAGCCACC	0.343																																						uc010ipj.3																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2728-2730)cGt>cAt		Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.							94	95	94					4																	151788860		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151788860C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2729G>A	4.37:g.151788860C>T	ENSP00000349629:p.Arg910His					LRBA_uc003ilu.4_Missense_Mutation_p.R910H	p.R910H	NM_006726	NP_006717	P50851	LRBA_HUMAN			21	2973	-	all_hematologic(180;0.151)		910					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2729G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537612	0.96460	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.81775	-0.0778	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	910;910	P50851;P50851-2	LRBA_HUMAN;.	H	910	ENSP00000446299:R910H;ENSP00000421552:R910H;ENSP00000349629:R910H;ENSP00000422180:R910H	ENSP00000349629:R910H	R	-	2	0	LRBA	152008310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	CGT		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151788860	C	T	151788860	3	4	24	1	0	0	0	0	1	0	0	0	8931	536	19	1	6010	1	LRBA	4	151788860	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		151788860	39365416	14	1500											
DIMT1L	27292	broad.mit.edu	37	chr5	61686705	61686705	+	Frame_Shift_Del	DEL	G	G	-																															aaacaaaaatgtaattacctGatgaagtcatctatgtccat																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:61686705delG	ENST00000199320.4	-	11	1057	c.897delC	c.(895-897)atcfs	p.I299fs	KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	299				Missing (in Ref. 2; AAH02841). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GTAATTACCTGATGAAGTCAT	0.383																																						uc003jta.3																			0											c.(895-897)atcfs		Homo sapiens DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) (DIMT1), mRNA.							169	165	166					5																	61686705		2203	4300	6503	SO:0001589	frameshift_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61686705delG	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.897delC	5.37:g.61686705delG	ENSP00000199320:p.Ile299fs						p.I299fs	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN			10	1026	-			299	Missing (in Ref. 2; AAH02841).				O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	c.897delC	CCDS3981.1																																																																																				0.383	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		-	61686705	G	-	61686705	7	5	24	1	0	1	0	1	0	0	0	0	4523	1280	45	0	52	0	DIMT1L	5	61686705	Frame_Shift_Del	DEL	G	TCGA-06-0152-01A-02W-0323-08		61686705	119228555	15	1501											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752102	140752102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctggcaatctccctgcGcctgcgatgctcctccagac	6	10	9	16	2	2	1	0	0	2	1	5	3	4	1	4	1	3	2	4	1	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:140752102G>A	ENST00000576222.1	+	1	2272	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	714					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCCCTGCGCCTGCGATGC	0.582																																						uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2140-2142)cGc>cAc		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							69	76	74					5																	140752102		2069	4217	6286	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140752102G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2141G>A	5.37:g.140752102G>A	ENSP00000461862:p.Arg714His					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R714H|PCDHGC5_uc011dau.2_5'Flank	p.R714H	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2141	+			716					A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2141G>A	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140752102	G	A	140752102	3	1	24	1	0	0	0	0	1	0	0	0	11564	1087	38	1	2143	1	PCDHGB3	5	140752102	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	79065397	140752102	40163158	16	1502											
FLT4	2324	broad.mit.edu	37	chr5	180048197	180048197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgcatctccagcgagtcGctcacgttcaccaggaggtc	8	8	10	15	3	3	0	2	0	1	0	6	2	3	1	2	2	2	3	2	2	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:180048197G>A	ENST00000261937.6	-	14	2154	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	FLT4_ENST00000393347.3_Silent_p.S692S|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.S692S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	692	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGCGAGTCGCTCACGTTCA	0.632																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2074-2076)agC>agT		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						32	34	34					5																	180048197		2203	4298	6501	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048197G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2076C>T	5.37:g.180048197G>A						FLT4_uc003mma.4_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.2_Silent_p.S692S	p.S692S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2155	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	692			Ig-like C2-type 7.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2076C>T	CCDS4457.1																																																																																				0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180048197	G	A	180048197	2	1	24	1	0	0	0	0	0	0	0	1	5944	1078	38	1		1	FLT4	5	180048197	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	39296095	180048197	867063	17	1503											
GRM4	2914	broad.mit.edu	37	chr6	34004373	34004373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccccggccagtgcatcCgctctatctggcaatgacag	7	8	10	16	3	2	1	0	1	2	0	4	1	4	1	4	2	1	4	4	2	2	1	rs561013910		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:34004373C>T	ENST00000538487.2	-	9	1957	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	GRM4_ENST00000544773.2_Missense_Mutation_p.R336Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R365Q|GRM4_ENST00000374181.4_Missense_Mutation_p.R505Q|GRM4_ENST00000374177.3_Missense_Mutation_p.R389Q|GRM4_ENST00000609222.1_Missense_Mutation_p.R372Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R372Q	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	505					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCAGTGCATCCGCTCTATCTG	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18016	0		0	False		,,,				2504	0					uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1513-1515)cGg>cAg		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						24	24	24					6																	34004373		2063	4054	6117	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004373C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1514G>A	6.37:g.34004373C>T	ENSP00000440556:p.Arg505Gln					GRM4_uc011dsn.2_Missense_Mutation_p.R458Q|GRM4_uc010jvh.3_Missense_Mutation_p.R505Q|GRM4_uc010jvi.3_Missense_Mutation_p.R197Q|GRM4_uc003oio.3_Missense_Mutation_p.R197Q|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R365Q|GRM4_uc003oiq.3_Missense_Mutation_p.R372Q|GRM4_uc011dsm.2_Missense_Mutation_p.R336Q	p.R505Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN			7	1877	-			505					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1514G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069467	0.20147	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	4.99	4.02	0.46733	.	0.270105	0.37577	N	0.002027	T	0.55162	0.1903	L	0.29908	0.895	0.27289	N	0.957894	B;B;B;B;B	0.13594	0.0;0.0;0.008;0.0;0.003	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.001	T	0.38564	-0.9655	10	0.13470	T	0.59	.	8.2102	0.31479	0.0:0.7347:0.0:0.2653	.	458;336;365;505;372	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	Q	505;389;197;372;336;505;365	ENSP00000363296:R505Q;ENSP00000363292:R389Q;ENSP00000445533:R197Q;ENSP00000437925:R372Q;ENSP00000437730:R336Q;ENSP00000440556:R505Q;ENSP00000398456:R365Q	ENSP00000363292:R389Q	R	-	2	0	GRM4	34112351	0.880000	0.30214	1.000000	0.80357	0.973000	0.67179	-0.027000	0.12371	1.164000	0.42652	0.551000	0.68910	CGG		0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			T	34004373	C	T	34004373	3	4	24	1	0	0	0	0	1	0	0	0	6799	652	23	2	1236	2	GRM4	6	34004373	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		34004373	137110694	18	1504											
DNAH8	1769	broad.mit.edu	37	chr6	38957817	38957817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaagatgtttgaaccGtcattctgcttttatactgg	10	15	10	6	1	2	3	1	2	1	2	2	4	2	3	1	1	3	2	1	1	4	5	rs143472136	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:38957817G>A	ENST00000359357.3	+	86	12686	c.12432G>A	c.(12430-12432)ccG>ccA	p.P4144P	DNAH8_ENST00000441566.1_Silent_p.P4108P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4144					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTGAACCGTCATTCTGCT	0.368																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(13081-13083)ccG>ccA		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	155	146	149		13083	-5.6	0.4	6	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH8	NM_001206927.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4361/4708	38957817	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38957817G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12432G>A	6.37:g.38957817G>A						DNAH8_uc003ooe.2_Silent_p.P4144P	p.P4361P	NM_001206927	NP_001193856					87	13192	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.13083G>A																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38957817	G	A	38957817	2	1	24	1	0	0	0	0	0	0	0	1	4607	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	4953444	38957817	132157250	19	1505											
OPN5	221391	broad.mit.edu	37	chr6	47763200	47763200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgatcgtgttctcctaCgtaaagatcattgccaaggt	9	13	10	9	2	2	2	1	1	1	1	4	2	2	2	2	1	2	3	2	1	4	4	rs375529102		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:47763200C>T	ENST00000371211.2	+	4	685	c.657C>T	c.(655-657)taC>taT	p.Y219Y	OPN5_ENST00000393699.2_Silent_p.Y219Y|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Silent_p.Y219Y	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	219					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTTCTCCTACGTAAAGATCA	0.512																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.3																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(655-657)taC>taT		Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.		C		0,4406		0,0,2203	119	105	109		657	-8.4	0.8	6		109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OPN5	NM_181744.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		219/355	47763200	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47763200C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.657C>T	6.37:g.47763200C>T						OPN5_uc003ozd.3_Silent_p.Y54Y	p.Y219Y	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			3	685	+			219					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.657C>T	CCDS4923.1																																																																																				0.512	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		T	47763200	C	T	47763200	2	4	24	1	0	0	0	0	0	0	0	1	10883	547	19	1		1	OPN5	6	47763200	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	8805383	47763200	123351867	20	1506											
PKHD1	5314	broad.mit.edu	37	chr6	51889738	51889738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgggaacaatgcaccGgatgagctcagcaccgatgt	10	7	12	12	2	1	1	1	1	0	0	1	4	1	3	3	2	4	3	3	2	2	0	rs200391019		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:51889738G>A	ENST00000371117.3	-	32	5145	c.4870C>T	c.(4870-4872)Cgg>Tgg	p.R1624W	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1624W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1624	IPT/TIG 11.		R -> W (in ARPKD). {ECO:0000269|PubMed:11898128, ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:16959974}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R1624W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAATGCACCGGATGAGCTCA	0.507																																						uc003pah.1																			1	Substitution - Missense(1)	p.R1624W(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM020959	PKHD1	M		c.(4870-4872)Cgg>Tgg		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	159	147	151		4870,4870	4.4	0.1	6		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1624/4075,1624/3397	51889738	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889738G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4870C>T	6.37:g.51889738G>A	ENSP00000360158:p.Arg1624Trp					PKHD1_uc003pai.3_Missense_Mutation_p.R1624W	p.R1624W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			31	5146	-	Lung NSC(77;0.0605)		1624		R -> W (in ARPKD).	IPT/TIG 11.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4870C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014766	0.54468	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77620	-1.11;-1.11	5.3	4.43	0.53597	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.722191	0.13307	N	0.397776	T	0.59851	0.2224	N	0.14661	0.345	0.26605	N	0.972952	P;D	0.63046	0.829;0.992	P;P	0.53549	0.663;0.729	T	0.56854	-0.7910	10	0.38643	T	0.18	.	12.8124	0.57647	0.079:0.0:0.921:0.0	.	1624;1624	P08F94-2;P08F94	.;PKHD1_HUMAN	W	1624	ENSP00000360158:R1624W;ENSP00000341097:R1624W	ENSP00000341097:R1624W	R	-	1	2	PKHD1	51997697	1.000000	0.71417	0.085000	0.20634	0.480000	0.33159	4.725000	0.61979	1.231000	0.43661	0.650000	0.86243	CGG		0.507	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51889738	G	A	51889738	3	1	24	1	0	0	0	0	1	0	0	0	11971	1115	39	2	7537	2	PKHD1	6	51889738	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	4126538	51889738	119225329	21	1507											
OOEP	441161	broad.mit.edu	37	chr6	74079390	74079390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctctcagttcctgcacCggaaaccaccagggccggat	8	7	12	14	2	2	0	1	0	1	0	4	2	3	2	5	4	2	2	5	4	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:74079390C>T	ENST00000370359.5	-	1	125	c.126G>A	c.(124-126)ccG>ccA	p.P42P	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	42					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTCCTGCACCGGAAACCACC	0.622																																						uc003pgu.4																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(124-126)ccG>ccA		Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.							78	85	83					6																	74079390		2061	4223	6284	SO:0001819	synonymous_variant	441161					cytoplasm		g.chr6:74079390C>T	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"KH homology domain containing 2"	611689	"chromosome 6 open reading frame 156", "oocyte expressed protein homolog (dog)"	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.126G>A	6.37:g.74079390C>T						OOEP_uc003pgv.4_Intron	p.P42P	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			0	126	-			42					A6NIN5|A9UIB7	Silent	SNP	ENST00000370359.5	37	c.126G>A	CCDS47451.1																																																																																				0.622	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		T	74079390	C	T	74079390	2	4	24	1	0	0	0	0	0	0	0	1	10870	639	23	2		2	OOEP	6	74079390	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	22189652	74079390	97035677	22	1508											
FILIP1	27145	broad.mit.edu	37	chr6	76024625	76024625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcttgagaaaacctcGaagccttgtgttcaaagtcc	11	11	8	11	1	2	1	1	1	1	1	4	3	3	1	3	0	3	2	3	0	4	3	rs371050880		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:76024625G>T	ENST00000237172.7	-	5	1253	c.923C>A	c.(922-924)tCg>tAg	p.S308*	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Nonsense_Mutation_p.S308*|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.S209*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGAAAACCTCGAAGCCTTGTG	0.423																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(931-933)tCg>tAg		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							149	136	141					6																	76024625		2203	4300	6503	SO:0001587	stop_gained	27145							g.chr6:76024625G>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.923C>A	6.37:g.76024625G>T	ENSP00000237172:p.Ser308*					FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.3_Nonsense_Mutation_p.S209*|FILIP1_uc003pia.3_Nonsense_Mutation_p.S308*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60*	p.S311*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	1462	-			308					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	37	c.932C>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	37	6.320088	0.97471	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.71	5.71	0.89125	.	0.064305	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6148	20.2245	0.98337	0.0:0.0:1.0:0.0	.	.	.	.	X	308;308;209	.	ENSP00000237172:S308X	S	-	2	0	FILIP1	76081345	0.909000	0.30893	0.965000	0.40720	0.695000	0.40330	2.590000	0.46154	2.861000	0.98227	0.650000	0.86243	TCG		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		T	76024625	G	T	76024625	4	4	24	1	0	0	0	0	0	1	0	0	5894	1059	37	5	2726	5	FILIP1	6	76024625	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1945235	76024625	95090442	23	1509											
SEC63	11231	broad.mit.edu	37	chr6	108225906	108225906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtagggcaggacacttTtttagcatgaattgctgatc	11	13	11	6	0	0	3	0	3	0	0	1	4	0	4	0	2	2	4	0	2	4	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:108225906T>G	ENST00000369002.4	-	11	1160	c.981A>C	c.(979-981)aaA>aaC	p.K327N		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	327	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGACACTTTTTTAGCATGA	0.348																																						uc003psc.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(979-981)aaA>aaC		Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.							125	128	127					6																	108225906		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108225906T>G	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.981A>C	6.37:g.108225906T>G	ENSP00000357998:p.Lys327Asn					SEC63_uc003psb.4_Missense_Mutation_p.K187N	p.K327N	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	10	1250	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	327			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.981A>C	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299858	0.60195	.	.	ENSG00000025796	ENST00000369002;ENST00000423697	T	0.60920	0.15	5.41	5.41	0.78517	Sec63 domain (3);	0.042071	0.85682	D	0.000000	T	0.60715	0.2290	M	0.69823	2.125	0.58432	D	0.999996	P;P	0.52577	0.924;0.954	P;P	0.60886	0.88;0.812	T	0.65331	-0.6194	10	0.45353	T	0.12	-21.2434	8.7777	0.34771	0.0:0.1477:0.0:0.8523	.	327;327	Q9UGP8;B3KQF0	SEC63_HUMAN;.	N	327;187	ENSP00000357998:K327N	ENSP00000357998:K327N	K	-	3	2	SEC63	108332599	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	2.384000	0.44362	2.048000	0.60808	0.477000	0.44152	AAA		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		G	108225906	T	G	108225906	3	3	24	1	0	0	0	0	1	0	0	0	14005	1838	64	5	1345	5	SEC63	6	108225906	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	32201281	108225906	62889161	24	1510											
GPR126	57211	broad.mit.edu	37	chr6	142736937	142736937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttcattttttaggaaaTtgcgaagggattatccctcc	9	18	7	7	1	1	0	1	0	0	0	3	3	3	2	2	2	1	0	2	2	4	8			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:142736937T>C	ENST00000230173.6	+	20	3150	c.2674T>C	c.(2674-2676)Ttg>Ctg	p.L892L	GPR126_ENST00000296932.8_Silent_p.L864L|GPR126_ENST00000367609.3_Silent_p.L892L|GPR126_ENST00000367608.2_Silent_p.L864L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	892					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTTTAGGAAATTGCGAAGGGA	0.403																																						uc010khe.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2674-2676)Ttg>Ctg		Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.							69	65	66					6																	142736937		1831	4102	5933	SO:0001819	synonymous_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736937T>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2674T>C	6.37:g.142736937T>C						GPR126_uc010khc.3_Silent_p.L892L|GPR126_uc010khd.3_Silent_p.L864L|GPR126_uc010khf.3_Silent_p.L864L	p.L892L	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	19	3085	+	Breast(32;0.176)		892					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.2674T>C	CCDS47490.1																																																																																				0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			C	142736937	T	C	142736937	2	2	24	1	0	0	0	0	0	0	0	1	6640	1490	52	4		4	GPR126	6	142736937	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	34511031	142736937	28378130	25	1511											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258211	87258211	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggcggcaagaaaagcctGagcgcccgcaatgctgcggt	10	4	16	11	4	0	2	0	1	0	1	0	3	0	3	2	4	4	3	2	4	4	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:87258211G>C	ENST00000338056.3	+	1	483	c.72G>C	c.(70-72)ctG>ctC	p.L24L	RUNDC3B_ENST00000394654.3_Silent_p.L24L|RUNDC3B_ENST00000493037.1_Silent_p.L24L|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	24										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGAAAAGCCTGAGCGCCCGCA	0.716																																						uc003ujb.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(70-72)ctG>ctC		Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.							17	19	18					7																	87258211		2184	4283	6467	SO:0001819	synonymous_variant	154661							g.chr7:87258211G>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.72G>C	7.37:g.87258211G>C						ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.2_Silent_p.L24L|RUNDC3B_uc003ujc.3_Silent_p.L24L	p.L24L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			0	483	+	Esophageal squamous(14;0.00164)		24					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.72G>C	CCDS5609.1																																																																																				0.716	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		C	87258211	G	C	87258211	2	2	24	1	0	0	0	0	0	0	0	1	13745	1277	45	5		5	RUNDC3B	7	87258211	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		87258211	71880452	26	1512											
RELN	5649	broad.mit.edu	37	chr7	103338350	103338350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcctgtgtccactgggtCgagactatcttctaaaacga	9	12	10	10	2	2	1	0	0	2	1	4	3	3	1	2	1	2	1	2	1	3	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:103338350C>T	ENST00000428762.1	-	10	1252	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	RELN_ENST00000343529.5_Missense_Mutation_p.D365N|RELN_ENST00000424685.2_Missense_Mutation_p.D365N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	365					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCACTGGGTCGAGACTATCT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1093-1095)Gac>Aac		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							134	124	128					7																	103338350		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338350C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1093G>A	7.37:g.103338350C>T	ENSP00000392423:p.Asp365Asn					RELN_uc022ajq.1_Missense_Mutation_p.D365N|RELN_uc010liz.3_Missense_Mutation_p.D365N	p.D365N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	9	1253	-			365					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1093G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	c	35	5.422205	0.96111	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41065	1.01;1.01;1.01	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.63985	-0.6513	10	0.72032	D	0.01	.	20.6289	0.99525	0.0:1.0:0.0:0.0	.	365;365	P78509-2;P78509	.;RELN_HUMAN	N	365	ENSP00000392423:D365N;ENSP00000345694:D365N;ENSP00000388446:D365N	ENSP00000345694:D365N	D	-	1	0	RELN	103125586	1.000000	0.71417	0.955000	0.39395	0.867000	0.49689	7.270000	0.78493	2.886000	0.99085	0.645000	0.84053	GAC		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103338350	C	T	103338350	3	4	24	1	0	0	0	0	1	0	0	0	13220	884	31	2	9513	2	RELN	7	103338350	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	16080139	103338350	55800313	27	1513											
CHCHD3	54927	broad.mit.edu	37	chr7	132754903	132754903	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaattcagcaataccTgaggcaccataagcaccaga	18	7	6	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	3	3	1	6	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:132754903T>C	ENST00000262570.5	-	2	312	c.168A>G	c.(166-168)tcA>tcG	p.S56S	CHCHD3_ENST00000448878.1_Splice_Site_p.S56S|CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000542753.1_Splice_Site_p.S56S	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	56					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CAGCAATACCTGAGGCACCAT	0.378																																						uc022alw.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.e2+1		Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.							67	58	61					7																	132754903		2203	4300	6503	SO:0001630	splice_region_variant	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132754903T>C	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.169+1A>G	7.37:g.132754903T>C						CHCHD3_uc003vre.3_Splice_Site_p.V57_splice|CHCHD3_uc010lmi.3_Splice_Site|CHCHD3_uc011kpn.1_Splice_Site_p.V57_splice	p.V57_splice	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN			2	300	-			57						Silent	SNP	ENST00000262570.5	37	c.169_splice	CCDS5828.1																																																																																				0.378	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812	Silent	C	132754903	T	C	132754903	5	2	24	1	0	0	0	0	0	0	1	0	3317	1594	55	4	543	4	CHCHD3	7	132754903	Splice_Site	SNP	T	TCGA-06-0152-01A-02W-0323-08	29416553	132754903	26383760	28	1514											
KEL	3792	broad.mit.edu	37	chr7	142655026	142655026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgttcggttaaagtttaagGaagtccatttaccagagatg	12	12	11	6	2	0	1	0	0	0	1	2	3	1	2	2	2	1	3	2	2	5	6			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:142655026G>T	ENST00000355265.2	-	6	1034	c.560C>A	c.(559-561)tCc>tAc	p.S187Y	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	187					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGTTTAAGGAAGTCCATTT	0.517																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(559-561)tCc>tAc		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							94	80	85					7																	142655026		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655026G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.560C>A	7.37:g.142655026G>T	ENSP00000347409:p.Ser187Tyr						p.S187Y	NM_000420	NP_000411	P23276	KELL_HUMAN			5	770	-	Melanoma(164;0.059)		187					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.560C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891968	0.33442	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.74315	-0.83;-0.83	5.8	2.97	0.34412	Peptidase M13 (1);	0.645923	0.14459	N	0.318328	T	0.69278	0.3093	L	0.54323	1.7	0.09310	N	1	P	0.41673	0.759	B	0.41374	0.355	T	0.61212	-0.7108	10	0.72032	D	0.01	-10.0984	8.746	0.34587	0.2438:0.0:0.7562:0.0	.	187	P23276	KELL_HUMAN	Y	187;168	ENSP00000347409:S187Y;ENSP00000420011:S168Y	ENSP00000347409:S187Y	S	-	2	0	KEL	142365148	0.000000	0.05858	0.133000	0.22050	0.928000	0.56348	0.173000	0.16724	0.768000	0.33290	0.650000	0.86243	TCC		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142655026	G	T	142655026	3	4	24	1	0	0	0	0	1	0	0	0	8142	1174	41	5	1694	5	KEL	7	142655026	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	9900123	142655026	16483637	29	1515											
CLCN1	1180	broad.mit.edu	37	chr7	143036401	143036401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcggaggcttcatgcCtgtgtttgtgctaggtaagt	6	13	13	9	1	1	0	1	0	0	0	1	1	1	1	2	3	3	4	2	3	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:143036401C>G	ENST00000343257.2	+	13	1544	c.1457C>G	c.(1456-1458)cCt>cGt	p.P486R		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	486					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGCTTCATGCCTGTGTTTGTG	0.517																																						uc003wcr.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1456-1458)cCt>cGt		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							204	195	198					7																	143036401		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143036401C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1457C>G	7.37:g.143036401C>G	ENSP00000339867:p.Pro486Arg					CLCN1_uc011ktc.1_Missense_Mutation_p.P98R	p.P486R	NM_000083	NP_000074	P35523	CLCN1_HUMAN			12	1544	+	Melanoma(164;0.205)		486					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1457C>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787161	0.90367	.	.	ENSG00000188037	ENST00000343257	D	0.99591	-6.24	5.63	5.63	0.86233	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96930	0.9680	10	0.87932	D	0	.	19.6652	0.95890	0.0:1.0:0.0:0.0	.	486	P35523	CLCN1_HUMAN	R	486	ENSP00000339867:P486R	ENSP00000339867:P486R	P	+	2	0	CLCN1	142746523	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.807000	0.86032	2.641000	0.89580	0.643000	0.83706	CCT		0.517	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		G	143036401	C	G	143036401	3	3	24	1	0	0	0	0	1	0	0	0	3462	681	24	5	1507	5	CLCN1	7	143036401	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	381375	143036401	16102262	30	1516											
ARHGEF10	9639	broad.mit.edu	37	chr8	1806268	1806268	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctggagccagtgaagcCcctgcacccacaggtgagtt	8	7	14	12	0	0	2	0	2	0	0	0	3	0	3	4	3	4	3	4	3	1	1	rs111294316	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:1806268C>A	ENST00000398564.1	+	3	252	c.252C>A	c.(250-252)gcC>gcA	p.A84A	ARHGEF10_ENST00000518288.1_Silent_p.A84A|ARHGEF10_ENST00000398560.1_Silent_p.A84A|ARHGEF10_ENST00000349830.3_Silent_p.A60A|ARHGEF10_ENST00000520359.1_Silent_p.A60A|ARHGEF10_ENST00000262112.6_Silent_p.A84A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	84					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGTGAAGCCCCTGCACCCA	0.617																																						uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(178-180)gcC>gcA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							33	34	33					8																	1806268		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1806268C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.252C>A	8.37:g.1806268C>A						ARHGEF10_uc003wpq.1_Silent_p.A84A|ARHGEF10_uc003wps.3_Silent_p.A60A|ARHGEF10_uc003wpt.3_5'Flank|ARHGEF10_uc010lrd.2_5'Flank|ARHGEF10_uc003wpu.3_5'Flank	p.A60A	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	2	358	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	84					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.180C>A																																																																																					0.617	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				A	1806268	C	A	1806268	2	1	24	1	0	0	0	0	0	0	0	1	894	610	22	5		5	ARHGEF10	8	1806268	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		1806268	144557754	31	1517											
TRIM55	84675	broad.mit.edu	37	chr8	67062093	67062093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttatggatgagccaGaaatggcagtgtttctgcag	10	13	12	6	0	2	2	1	1	1	1	2	3	2	3	1	2	2	4	1	2	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:67062093G>T	ENST00000315962.4	+	5	1190	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E273*|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E273*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	273	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGATGAGCCAGAAATGGCAGT	0.378																																						uc003xvv.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(817-819)Gaa>Taa		Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.							102	102	102					8																	67062093		2203	4300	6503	SO:0001587	stop_gained	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67062093G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.817G>T	8.37:g.67062093G>T	ENSP00000323913:p.Glu273*					TRIM55_uc003xvu.3_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.3_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.3_Intron	p.E273*	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		4	1043	+		Lung NSC(129;0.138)|all_lung(136;0.221)	273			COS.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	c.817G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	38	6.938519	0.97948	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.5359	0.95254	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000276573:E273X	E	+	1	0	TRIM55	67224647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.844000	0.86867	2.615000	0.88500	0.650000	0.86243	GAA		0.378	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		T	67062093	G	T	67062093	4	4	24	1	0	0	0	0	0	1	0	0	16526	943	33	5	835	5	TRIM55	8	67062093	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	65255825	67062093	79301929	32	1518											
DENND4C	55667	broad.mit.edu	37	chr9	19346294	19346294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagcacagatcatctcCggtgccagagatgcttgagg	9	9	12	11	1	2	4	1	2	1	2	4	5	3	4	3	2	3	2	3	2	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:19346294C>T	ENST00000380432.2	+	18	2705	c.2672C>T	c.(2671-2673)cCg>cTg	p.P891L	DENND4C_ENST00000602925.1_Missense_Mutation_p.P1127L|DENND4C_ENST00000434457.2_Missense_Mutation_p.P1176L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	891					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATCATCTCCGGTGCCAGAG	0.443																																						uc003znq.3																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2671-2673)cCg>cTg		Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.							120	114	116					9																	19346294		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346294C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2672C>T	9.37:g.19346294C>T	ENSP00000369797:p.Pro891Leu					DENND4C_uc011lnc.2_Missense_Mutation_p.P221L|DENND4C_uc011lnd.2_Missense_Mutation_p.P179L|DENND4C_uc003znr.3_Missense_Mutation_p.P179L|DENND4C_uc003zns.3_Missense_Mutation_p.P73L|DENND4C_uc003znt.3_Missense_Mutation_p.P73L	p.P891L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			17	2752	+			891					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.2672C>T		.	.	.	.	.	.	.	.	.	.	C	4.381	0.070265	0.08436	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.82	5.81	4.0	0.46444	.	1.215040	0.05470	N	0.552968	T	0.32704	0.0838	L	0.40543	1.245	0.09310	N	1	P;B;D;B	0.55800	0.573;0.007;0.973;0.001	B;B;P;B	0.48488	0.095;0.003;0.579;0.0	T	0.28364	-1.0046	10	0.66056	D	0.02	2.082	10.9372	0.47251	0.0:0.8559:0.0:0.1441	.	221;891;73;891	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	L	891;364;73;221;364;73	ENSP00000305795:P364L;ENSP00000443804:P221L	ENSP00000305795:P364L	P	+	2	0	DENND4C	19336294	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	2.080000	0.41586	0.817000	0.34445	-0.142000	0.14014	CCG		0.443	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		T	19346294	C	T	19346294	3	4	24	1	0	0	0	0	1	0	0	0	4435	652	23	2	2742	2	DENND4C	9	19346294	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		19346294	121867137	33	1519											
PGM5	5239	broad.mit.edu	37	chr9	71080089	71080089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatctgatggactcaggacGttgcaatctgtgtggggaag	11	10	14	6	1	3	1	1	1	2	0	3	4	3	4	0	4	1	2	0	4	3	1	rs141668530		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:71080089G>A	ENST00000396396.1	+	7	1353	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	PGM5_ENST00000396392.1_Missense_Mutation_p.R375H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	375					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GACTCAGGACGTTGCAATCTG	0.473																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1123-1125)cGt>cAt		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	212	193	200		1124	5.9	1	9	dbSNP_134	200	0,8600		0,0,4300	no	missense	PGM5	NM_021965.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	375/568	71080089	1,13005	2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71080089G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1124G>A	9.37:g.71080089G>A	ENSP00000379678:p.Arg375His						p.R375H	NM_021965	NP_068800	Q15124	PGM5_HUMAN			6	1353	+			375					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1124G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193875	0.78902	2.27E-4	0.0	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.43688	0.94;0.94	5.87	5.87	0.94306	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.78753	-0.2081	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	375	Q15124	PGM5_HUMAN	H	375	ENSP00000379678:R375H;ENSP00000379674:R375H	ENSP00000379674:R375H	R	+	2	0	PGM5	70269909	0.673000	0.27539	1.000000	0.80357	0.596000	0.36781	3.277000	0.51654	2.941000	0.99782	0.655000	0.94253	CGT		0.473	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		A	71080089	G	A	71080089	3	1	24	1	0	0	0	0	1	0	0	0	11801	1145	40	1	1150	1	PGM5	9	71080089	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	51733795	71080089	70133342	34	1520											
APBA1	320	broad.mit.edu	37	chr9	72130983	72130983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctaatgtcctggcGcatgacccagatgggctctt	6	10	15	10	1	1	2	0	1	1	1	2	2	2	2	2	5	0	3	2	5	1	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:72130983G>A	ENST00000265381.4	-	2	1366	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	382	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGTCCTGGCGCATGACCCAG	0.622																																						uc004ahh.2																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1144-1146)Cgc>Tgc		Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.							139	115	123					9																	72130983		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72130983G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1144C>T	9.37:g.72130983G>A	ENSP00000265381:p.Arg382Cys						p.R382C	NM_001163	NP_001154	Q02410	APBA1_HUMAN			1	1420	-			382			LIN-2/CASK binding.|Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1144C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437468	0.62955	.	.	ENSG00000107282	ENST00000265381	T	0.07216	3.21	5.95	5.95	0.96441	.	0.053257	0.64402	D	0.000001	T	0.19248	0.0462	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00175	-1.1955	10	0.56958	D	0.05	-14.9849	13.7627	0.62977	0.0:0.0:0.7318:0.2682	.	382	Q02410	APBA1_HUMAN	C	382	ENSP00000265381:R382C	ENSP00000265381:R382C	R	-	1	0	APBA1	71320803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.312000	0.51927	2.824000	0.97209	0.655000	0.94253	CGC		0.622	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		A	72130983	G	A	72130983	3	1	24	1	0	0	0	0	1	0	0	0	756	1087	38	1	1417	1	APBA1	9	72130983	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1050894	72130983	69082448	35	1521											
GOLGA2	2801	broad.mit.edu	37	chr9	131020819	131020821	+	In_Frame_Del	DEL	TCC	TCC	-																															cctcctcctcctcctcctcaTcctcctcctcctcccggtcc																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:131020819_131020821delTCC	ENST00000421699.2	-	21	2133_2135	c.2121_2123delGGA	c.(2119-2124)gaggat>gat	p.E707del	GOLGA2_ENST00000609374.1_In_Frame_Del_p.E695del|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	707	Poly-Glu.				mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ctcctcctcatcctcctcctcct	0.65																																						uc011maw.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2119-2124)gaggat>gat		Homo sapiens golgin A2 (GOLGA2), mRNA.																																				SO:0001651	inframe_deletion	2801					Golgi cisterna membrane	protein binding	g.chr9:131020819_131020821delTCC	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2121_2123delGGA	9.37:g.131020828_131020830delTCC	ENSP00000416097:p.Glu707del					GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_In_Frame_Del_p.E180del|JA429730_uc022bod.1_5'Flank|DQ583692_uc022bog.1_5'Flank	p.E707del	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			20	2134_2136	-			707			Poly-Glu.		Q6GRM9|Q9BRB0|Q9NYF9	In_Frame_Del	DEL	ENST00000421699.2	37	c.2121_2123delGGA	CCDS6896.2																																																																																				0.65	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		-	131020821	TCC	-	131020819	7	5	24	1	0	1	0	1	0	0	0	0	6552	1435	50	0	909	0	GOLGA2	9	131020819	In_Frame_Del	DEL	TCC	TCGA-06-0152-01A-02W-0323-08	58889836	131020819	10192612	36	1522											
SOHLH1	402381	broad.mit.edu	37	chr9	138586907	138586907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcacccggcctcctgCgccagcatggggtcctcctt	4	8	11	18	2	1	0	1	0	0	0	4	0	4	0	6	4	2	2	6	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:138586907C>T	ENST00000298466.5	-	6	924	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_ENST00000425225.1_Silent_p.A288A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	288					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A288A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697																																						uc010nbe.3																			2	Substitution - coding silent(2)	p.A288A(3)	lung(2)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(862-864)gcG>gcA		Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.							10	10	10					9																	138586907		2135	4214	6349	SO:0001819	synonymous_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586907C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.864G>A	9.37:g.138586907C>T						SOHLH1_uc004cgl.3_Silent_p.A288A	p.A288A	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	5	925	-		Myeloproliferative disorder(178;0.0511)	288					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	c.864G>A	CCDS35174.1																																																																																				0.697	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		T	138586907	C	T	138586907	2	4	24	1	0	0	0	0	0	0	0	1	14923	755	27	1		1	SOHLH1	9	138586907	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	7566088	138586907	2626524	37	1523											
KIAA1217	56243	broad.mit.edu	37	chr10	24762771	24762771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgatagacatgcaCgctcactataatgcccacgg	12	8	10	11	2	1	3	1	2	0	1	1	4	1	4	1	2	2	2	1	2	3	3	rs143282203	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:24762771C>T	ENST00000376454.3	+	6	1491	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	KIAA1217_ENST00000458595.1_Silent_p.H487H|KIAA1217_ENST00000376451.2_Silent_p.H205H|KIAA1217_ENST00000376462.1_Silent_p.H407H|KIAA1217_ENST00000396446.1_Silent_p.H205H|KIAA1217_ENST00000307544.6_Silent_p.H205H|KIAA1217_ENST00000376452.3_Silent_p.H487H|KIAA1217_ENST00000430453.2_Silent_p.H408H|KIAA1217_ENST00000396445.1_Silent_p.H205H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	487					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGACATGCACGCTCACTATA	0.557													C|||	4	0.000798722	0	0	5008	,	,		17546	0		0.001	False		,,,				2504	0.0031					uc001iru.4																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1459-1461)caC>caT		Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.		C	,,	1,4405	2.1+/-5.4	0,1,2202	104	90	95		1221,1461,1461	-1.7	0	10	dbSNP_134	95	19,8581	13.3+/-46.6	0,19,4281	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,	0,20,6483	TT,TC,CC		0.2209,0.0227,0.1538	,,	407/1265,487/1310,487/1944	24762771	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762771C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1461C>T	10.37:g.24762771C>T						KIAA1217_uc001irs.3_Silent_p.H407H|KIAA1217_uc001irt.4_Silent_p.H487H|KIAA1217_uc010qcy.2_Silent_p.H487H|KIAA1217_uc010qcz.2_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.H205H|KIAA1217_uc001irz.3_Silent_p.H205H|KIAA1217_uc001irx.3_Silent_p.H205H|KIAA1217_uc001iry.3_Silent_p.H205H	p.H487H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			5	1864	+			487					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1461C>T	CCDS31165.1																																																																																				0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24762771	C	T	24762771	2	4	24	1	0	0	0	0	0	0	0	1	8216	535	19	1		1	KIAA1217	10	24762771	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		24762771	110771976	38	1524											
KIAA1462	57608	broad.mit.edu	37	chr10	30315407	30315407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagagcctgccacacttgGggttctttctacaaaatgga	10	12	9	10	0	3	1	1	0	2	1	3	2	3	2	2	3	3	1	2	3	3	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:30315407G>C	ENST00000375377.1	-	3	3771	c.3670C>G	c.(3670-3672)Cca>Gca	p.P1224A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1224					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCCACACTTGGGGTTCTTTCT	0.488																																						uc009xle.2																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3670-3672)Cca>Gca		Homo sapiens KIAA1462 (KIAA1462), mRNA.							112	107	108					10																	30315407		1849	4100	5949	SO:0001583	missense	57608							g.chr10:30315407G>C	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3670C>G	10.37:g.30315407G>C	ENSP00000364526:p.Pro1224Ala					KIAA1462_uc001iux.3_Missense_Mutation_p.P1224A|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P1086A	p.P1224A	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3807	-			1224					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3670C>G	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308686	0.40895	.	.	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.17	2.0	0.26442	.	0.367276	0.27270	N	0.020132	T	0.18173	0.0436	L	0.57536	1.79	0.23325	N	0.997905	D	0.56035	0.974	P	0.54270	0.747	T	0.06935	-1.0799	10	0.21540	T	0.41	-9.0689	4.963	0.14076	0.101:0.0:0.5029:0.396	.	1224	Q9P266	K1462_HUMAN	A	1224	ENSP00000364526:P1224A	ENSP00000364526:P1224A	P	-	1	0	KIAA1462	30355413	0.104000	0.21937	0.922000	0.36590	0.898000	0.52572	0.385000	0.20685	1.244000	0.43870	0.655000	0.94253	CCA		0.488	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		C	30315407	G	C	30315407	3	2	24	1	0	0	0	0	1	0	0	0	8234	1232	43	5	417	5	KIAA1462	10	30315407	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	5552636	30315407	105219340	39	1525											
DOCK1	1793	broad.mit.edu	37	chr10	129231688	129231688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttccagaccaggctccGacgggtgagtcaagctcaca	9	6	10	16	2	2	2	2	1	0	1	4	3	4	2	5	2	1	2	5	2	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:129231688G>T	ENST00000280333.6	+	48	5102	c.4993G>T	c.(4993-4995)Gac>Tac	p.D1665Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1665					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.D1665Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACCAGGCTCCGACGGGTGAGT	0.597																																						uc010qun.2																			1	Substitution - Missense(1)	p.D1665Y(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(5056-5058)Gac>Tac		Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.							55	59	58					10																	129231688		1986	4159	6145	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129231688G>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4993G>T	10.37:g.129231688G>T	ENSP00000280333:p.Asp1665Tyr					DOCK1_uc001ljt.3_Missense_Mutation_p.D1665Y|DOCK1_uc009yaq.3_Missense_Mutation_p.D660Y	p.D1686Y	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	5120	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1665					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.5056G>T		.	.	.	.	.	.	.	.	.	.	G	18.58	3.654812	0.67472	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75020	0.965;0.985;0.965	T	0.00148	-1.1989	10	0.62326	D	0.03	.	18.5284	0.90981	0.0:0.0:1.0:0.0	.	1665;1731;1665	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	Y	1665	ENSP00000280333:D1665Y	ENSP00000280333:D1665Y	D	+	1	0	DOCK1	129121678	1.000000	0.71417	0.870000	0.34147	0.505000	0.33919	8.850000	0.92190	2.605000	0.88082	0.655000	0.94253	GAC		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	129231688	G	T	129231688	3	4	24	1	0	0	0	0	1	0	0	0	4684	1058	37	5	5183	5	DOCK1	10	129231688	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	98916281	129231688	6303059	40	1526											
NELL1	4745	broad.mit.edu	37	chr11	20949959	20949959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgaaggatgtcctgtcccCctctcaattgctccccagac	7	9	8	17	1	1	1	1	0	1	1	5	3	4	2	6	1	1	1	6	1	2	1	rs150066751		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:20949959C>T	ENST00000357134.5	+	9	1083	c.931C>T	c.(931-933)Cct>Tct	p.P311S	NELL1_ENST00000298925.5_Missense_Mutation_p.P339S|NELL1_ENST00000325319.5_Missense_Mutation_p.P254S|NELL1_ENST00000532434.1_Missense_Mutation_p.P311S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	311	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCTGTCCCCCTCTCAATTG	0.537																																						uc009yid.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1015-1017)Cct>Tct		Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.		C	SER/PRO,SER/PRO	4,4402	8.1+/-20.4	0,4,2199	196	155	169		931,931	5.9	1	11	dbSNP_134	169	0,8600		0,0,4300	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	74,74	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	311/811,311/764	20949959	4,13002	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20949959C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.931C>T	11.37:g.20949959C>T	ENSP00000349654:p.Pro311Ser					NELL1_uc010rdp.2_Missense_Mutation_p.P71S|NELL1_uc001mqe.3_Missense_Mutation_p.P311S|NELL1_uc001mqf.3_Missense_Mutation_p.P311S|NELL1_uc010rdo.2_Missense_Mutation_p.P254S	p.P339S	NM_006157	NP_006148	Q92832	NELL1_HUMAN			9	1168	+			311			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1015C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921411	0.73213	9.08E-4	0.0	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.055937	0.64402	D	0.000001	T	0.72882	0.3516	L	0.41632	1.29	0.58432	D	0.999999	P;P;B;P	0.51147	0.928;0.942;0.046;0.864	P;P;B;P	0.54759	0.526;0.76;0.041;0.658	T	0.64659	-0.6355	10	0.07325	T	0.83	-12.5445	20.328	0.98708	0.0:1.0:0.0:0.0	.	254;339;311;311	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	S	339;311;254;311	ENSP00000298925:P339S;ENSP00000349654:P311S;ENSP00000317837:P254S;ENSP00000437170:P311S	ENSP00000298925:P339S	P	+	1	0	NELL1	20906535	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.775000	0.75018	2.802000	0.96397	0.561000	0.74099	CCT		0.537	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	20949959	C	T	20949959	3	4	24	1	0	0	0	0	1	0	0	0	10333	623	22	3	965	3	NELL1	11	20949959	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		20949959	114056557	41	1527											
PACS1	55690	broad.mit.edu	37	chr11	65988123	65988123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctttgggctggagcatGtgtcccgcgagcagatccgg	5	9	17	10	3	0	1	0	0	0	1	2	3	2	2	2	4	2	4	2	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:65988123G>A	ENST00000320580.4	+	9	1093	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	354					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCTGGAGCATGTGTCCCGCGA	0.517																																						uc001oha.2																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1060-1062)Gtg>Atg		Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.							93	87	89					11																	65988123		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988123G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1060G>A	11.37:g.65988123G>A	ENSP00000316454:p.Val354Met						p.V354M	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			8	1194	+			354					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1060G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510200	0.85282	.	.	ENSG00000175115	ENST00000320580	T	0.17370	2.28	5.2	5.2	0.72013	.	0.061308	0.64402	D	0.000004	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	P	0.50943	0.94	P	0.50440	0.641	T	0.00563	-1.1669	10	0.45353	T	0.12	-13.761	17.4913	0.87704	0.0:0.0:1.0:0.0	.	354	Q6VY07	PACS1_HUMAN	M	354	ENSP00000316454:V354M	ENSP00000316454:V354M	V	+	1	0	PACS1	65744699	1.000000	0.71417	0.233000	0.24025	0.929000	0.56500	9.446000	0.97590	2.431000	0.82371	0.484000	0.47621	GTG		0.517	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		A	65988123	G	A	65988123	3	1	24	1	0	0	0	0	1	0	0	0	11372	1377	48	3	1094	3	PACS1	11	65988123	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	45038164	65988123	69018393	42	1528											
PRMT8	56341	broad.mit.edu	37	chr12	3649947	3649947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgactcctatgcccactttgGgatccacgaggtaaagtgtc	9	10	10	12	2	0	0	0	0	0	0	3	3	2	1	3	2	1	1	3	2	3	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:3649947G>T	ENST00000382622.3	+	2	641	c.251G>T	c.(250-252)gGg>gTg	p.G84V	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.G75V	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	84	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCCCACTTTGGGATCCACGAG	0.532																																						uc001qmf.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(250-252)gGg>gTg		Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.							129	132	131					12																	3649947		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649947G>T	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.251G>T	12.37:g.3649947G>T	ENSP00000372067:p.Gly84Val					PRMT8_uc009zed.3_Missense_Mutation_p.G75V|PRMT8_uc009zee.1_Non-coding_Transcript	p.G84V	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		1	618	+			84					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.251G>T	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634374	0.67130	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.24350	1.86;1.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.83118	2.625	0.80722	D	1	P;P	0.43024	0.798;0.696	B;B	0.40375	0.327;0.229	T	0.45425	-0.9262	10	0.87932	D	0	.	17.4274	0.87530	0.0:0.0:1.0:0.0	.	75;84	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	V	75;84	ENSP00000414507:G75V;ENSP00000372067:G84V	ENSP00000372067:G84V	G	+	2	0	PRMT8	3520208	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.813000	0.99286	2.717000	0.92951	0.563000	0.77884	GGG		0.532	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		T	3649947	G	T	3649947	3	4	24	1	0	0	0	0	1	0	0	0	12542	1232	43	5	257	5	PRMT8	12	3649947	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		3649947	130201948	43	1529											
TMEM132D	121256	broad.mit.edu	37	chr12	129694197	129694197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaggatggctgtgttcagGatttctgcctcctggaagac	7	12	14	8	0	2	2	1	1	1	1	3	5	3	5	2	4	1	2	2	4	1	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:129694197G>A	ENST00000422113.2	-	5	1637	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	437					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGTGTTCAGGATTTCTGCCT	0.617																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1309-1311)atC>atT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							91	73	79					12																	129694197		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129694197G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1311C>T	12.37:g.129694197G>A							p.I437I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1639	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	437					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1311C>T	CCDS9266.1																																																																																				0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129694197	G	A	129694197	2	1	24	1	0	0	0	0	0	0	0	1	16044	1164	41	3		3	TMEM132D	12	129694197	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	126044250	129694197	4157698	44	1530											
MTUS2	23281	broad.mit.edu	37	chr13	29599308	29599308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaaattccccggcatgTtcccaaggataaactggcaa	12	9	9	11	1	0	1	0	1	0	0	2	2	2	2	3	3	2	4	3	3	5	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:29599308T>C	ENST00000431530.3	+	1	561	c.503T>C	c.(502-504)gTt>gCt	p.V168A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	158						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCCGGCATGTTCCCAAGGAT	0.507																																						uc001usl.4																			0		p.R168W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(502-504)gTt>gCt		Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.							93	95	94					13																	29599308		2010	4192	6202	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599308T>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.503T>C	13.37:g.29599308T>C	ENSP00000392057:p.Val168Ala						p.V168A	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			0	561	+			158					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.503T>C	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	11.36	1.614658	0.28712	.	.	ENSG00000132938	ENST00000431530	T	0.14022	2.54	5.18	-3.86	0.04230	.	1.312740	0.05390	N	0.538802	T	0.06005	0.0156	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.43637	-0.9379	9	.	.	.	.	11.1437	0.48417	0.0:0.4203:0.0:0.5797	.	158	Q5JR59	MTUS2_HUMAN	A	168	ENSP00000392057:V168A	.	V	+	2	0	MTUS2	28497308	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.109000	0.15417	-1.002000	0.03429	0.459000	0.35465	GTT		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		C	29599308	T	C	29599308	3	2	24	1	0	0	0	0	1	0	0	0	9966	1725	60	4	505	4	MTUS2	13	29599308	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08		29599308	85570570	45	1531											
SLITRK6	84189	broad.mit.edu	37	chr13	86370526	86370526	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattagcattgtgccatcttTttcctcacaattgcaaagag	11	15	6	9	0	2	1	1	0	1	1	3	1	3	1	2	0	3	2	2	0	4	6			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:86370526T>G	ENST00000400286.2	-	2	716	c.118A>C	c.(118-120)Aaa>Caa	p.K40Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	40	LRRNT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTGCCATCTTTTTCCTCACAA	0.388																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(118-120)Aaa>Caa		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							91	86	87					13																	86370526		1885	4109	5994	SO:0001583	missense	84189					integral to membrane		g.chr13:86370526T>G	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.118A>C	13.37:g.86370526T>G	ENSP00000383143:p.Lys40Gln					SLITRK6_uc021rla.1_Missense_Mutation_p.K40Q	p.K40Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	577	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		40			LRRNT 1.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.118A>C	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770078	0.69992	.	.	ENSG00000184564	ENST00000400286	T	0.59083	0.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.75616	-0.3256	10	0.49607	T	0.09	-25.7009	15.6463	0.77055	0.0:0.0:0.0:1.0	.	40	Q9H5Y7	SLIK6_HUMAN	Q	40	ENSP00000383143:K40Q	ENSP00000383143:K40Q	K	-	1	0	SLITRK6	85268527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.281000	0.72632	2.371000	0.80710	0.533000	0.62120	AAA		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		G	86370526	T	G	86370526	3	3	24	1	0	0	0	0	1	0	0	0	14747	1850	64	5	2411	5	SLITRK6	13	86370526	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	56771218	86370526	28799352	46	1532											
FOXA1	3169	broad.mit.edu	37	chr14	38060897	38060897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagaggccagcgccccGggcccggagcttatgggggg	6	3	19	13	3	0	1	0	0	0	1	0	2	0	2	4	7	2	2	4	7	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:38060897G>A	ENST00000250448.2	-	2	1153	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	FOXA1_ENST00000540786.1_Silent_p.P331P|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	364					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCAGCGCCCCGGGCCCGGAGC	0.697																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1090-1092)ccC>ccT		Homo sapiens forkhead box A1 (FOXA1), mRNA.							10	10	10					14																	38060897		2185	4270	6455	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060897G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1092C>T	14.37:g.38060897G>A						FOXA1_uc010tpz.2_Silent_p.P331P	p.P364P	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	1404	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		364					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1092C>T	CCDS9665.1																																																																																				0.697	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			A	38060897	G	A	38060897	2	1	24	1	0	0	0	0	0	0	0	1	5989	1103	39	2		2	FOXA1	14	38060897	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		38060897	69288643	47	1533											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055586	72055586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccaaagtgctttgccCactatgatgtccagagtata	11	12	8	10	0	0	2	0	1	0	1	2	2	2	2	3	0	2	2	3	0	4	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:72055586C>T	ENST00000555818.1	+	2	1345	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.H333Y|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.H333Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	333					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTGCTTTGCCCACTATGATGT	0.448																																						uc001xms.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(997-999)Cac>Tac		Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.							69	72	71					14																	72055586		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055586C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.997C>T	14.37:g.72055586C>T	ENSP00000450832:p.His333Tyr					SIPA1L1_uc001xmt.3_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.3_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.3_Missense_Mutation_p.H333Y	p.H333Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	1	1358	+			333					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.997C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009101	0.54361	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.86164	-2.08;-2.03;-2.08	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.80616	2.505	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.981	P;D;D	0.91635	0.775;0.999;0.954	D	0.93500	0.6843	10	0.59425	D	0.04	-29.4545	20.6593	0.99626	0.0:1.0:0.0:0.0	.	333;333;333	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	Y	333	ENSP00000370630:H333Y;ENSP00000450832:H333Y;ENSP00000351352:H333Y	ENSP00000351352:H333Y	H	+	1	0	SIPA1L1	71125339	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CAC		0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72055586	C	T	72055586	3	4	24	1	0	0	0	0	1	0	0	0	14329	594	21	3	999	3	SIPA1L1	14	72055586	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	33994689	72055586	35293954	48	1534											
FAM181A	90050	broad.mit.edu	37	chr14	94394688	94394688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaacctggcgtccagCgacatcaaggcagccctgga	9	7	12	13	3	1	1	1	1	0	0	3	3	2	2	3	3	3	1	3	3	2	1	rs369127722		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94394688C>T	ENST00000267594.5	+	3	550	c.243C>T	c.(241-243)agC>agT	p.S81S	FAM181A_ENST00000556222.1_Silent_p.S19S|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.S19S|FAM181A_ENST00000557719.1_Silent_p.S19S	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	81										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGCGTCCAGCGACATCAAGG	0.587																																						uc001ybz.2																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(241-243)agC>agT		Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.		C	,,,,	1,4405		0,1,2202	77	67	71		57,57,57,57,243	-9.6	0.5	14		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM181A	NM_001207071.1,NM_001207072.1,NM_001207073.1,NM_001207074.1,NM_138344.4	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	19/293,19/293,19/293,19/293,81/355	94394688	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90050							g.chr14:94394688C>T	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.243C>T	14.37:g.94394688C>T						FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.S19S|FAM181A_uc021saz.1_Silent_p.S19S|FAM181A_uc010aus.2_Silent_p.S19S|FAM181A_uc001yca.2_Silent_p.S19S	p.S81S	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN			2	568	+			81					B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.243C>T	CCDS9914.1																																																																																				0.587	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		T	94394688	C	T	94394688	2	4	24	1	0	0	0	0	0	0	0	1	5508	767	27	1		1	FAM181A	14	94394688	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	22339102	94394688	12954852	49	1535											
SERPINA11	256394	broad.mit.edu	37	chr14	94914503	94914503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattggcaagaaccatgaaCgtgtcctggctgaactccgg	11	9	11	10	2	0	3	0	2	0	1	2	3	2	3	3	3	3	2	3	3	5	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94914503C>T	ENST00000334708.3	-	2	673	c.609G>A	c.(607-609)acG>acA	p.T203T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	203					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAACCATGAACGTGTCCTGGC	0.473																																						uc001ydd.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(607-609)acG>acA		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							97	98	97					14																	94914503		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914503C>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.609G>A	14.37:g.94914503C>T							p.T203T	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	1	669	-			203					B2RV07	Silent	SNP	ENST00000334708.3	37	c.609G>A	CCDS32149.1																																																																																				0.473	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		T	94914503	C	T	94914503	2	4	24	1	0	0	0	0	0	0	0	1	14088	523	19	1		1	SERPINA11	14	94914503	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	519815	94914503	12435037	50	1536											
RYR3	6263	broad.mit.edu	37	chr15	34077951	34077951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcaacgacctggccgaGtcaggggcccggtacacaga	12	4	13	12	3	2	1	2	0	0	1	2	4	2	1	3	4	2	1	3	4	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:34077951G>T	ENST00000389232.4	+	66	9427	c.9357G>T	c.(9355-9357)gaG>gaT	p.E3119D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3119D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3119					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGGCCGAGTCAGGGGCCC	0.567																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9355-9357)gaG>gaT		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							94	110	105					15																	34077951		2179	4291	6470	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34077951G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9357G>T	15.37:g.34077951G>T	ENSP00000373884:p.Glu3119Asp					RYR3_uc010bar.3_Missense_Mutation_p.E3119D	p.E3119D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	65	9427	+		all_lung(180;7.18e-09)	3119					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9357G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835162	0.71373	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.89415	-2.51;-2.51	5.13	3.26	0.37387	.	0.062219	0.64402	D	0.000006	D	0.92021	0.7472	M	0.77616	2.38	0.46678	D	0.999156	D;D	0.67145	0.996;0.991	P;P	0.58928	0.848;0.837	D	0.91787	0.5440	10	0.52906	T	0.07	.	10.6011	0.45367	0.2106:0.0:0.7894:0.0	.	3119;3119	Q15413-2;Q15413	.;RYR3_HUMAN	D	3119	ENSP00000373884:E3119D;ENSP00000399610:E3119D	ENSP00000354735:E3119D	E	+	3	2	RYR3	31865243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.743000	0.47442	1.534000	0.49203	0.655000	0.94253	GAG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34077951	G	T	34077951	3	4	24	1	0	0	0	0	1	0	0	0	13770	1020	36	5	9619	5	RYR3	15	34077951	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		34077951	68453441	51	1537											
TYRO3	7301	broad.mit.edu	37	chr15	41860451	41860451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaacctccatgccatccGcacagattcaggcctcatct	11	8	5	17	1	3	1	2	0	1	1	5	1	5	1	6	1	2	1	6	1	2	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:41860451G>A	ENST00000263798.3	+	8	1222	c.998G>A	c.(997-999)cGc>cAc	p.R333H	TYRO3_ENST00000559066.1_Missense_Mutation_p.R288H	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	333	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATGCCATCCGCACAGATTCA	0.562																																						uc001zof.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(997-999)cGc>cAc		Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.							63	61	62					15																	41860451		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41860451G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.998G>A	15.37:g.41860451G>A	ENSP00000263798:p.Arg333His						p.R333H	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	1234	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	333			Fibronectin type-III 2.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.998G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316030	0.40996	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57595	0.39	4.96	-2.71	0.05986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.376159	0.19566	N	0.111203	T	0.38321	0.1036	L	0.58101	1.795	0.28222	N	0.926492	B	0.12013	0.005	B	0.08055	0.003	T	0.33523	-0.9865	10	0.15066	T	0.55	-0.5506	7.1691	0.25708	0.6035:0.0:0.2672:0.1293	.	333	Q06418	TYRO3_HUMAN	H	265;333	ENSP00000263798:R333H	ENSP00000263798:R333H	R	+	2	0	TYRO3	39647743	0.235000	0.23794	0.934000	0.37439	0.913000	0.54294	-0.030000	0.12308	-0.684000	0.05183	0.563000	0.77884	CGC		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			A	41860451	G	A	41860451	3	1	24	1	0	0	0	0	1	0	0	0	16811	1087	38	1	1028	1	TYRO3	15	41860451	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	7782500	41860451	60670941	52	1538											
CCDC33	80125	broad.mit.edu	37	chr15	74554903	74554903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatccaagctgaggatgCagggcaagaaggtaagcagg	14	4	17	6	0	0	3	0	1	0	2	1	5	1	4	1	5	3	5	1	5	4	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:74554903C>T	ENST00000398814.3	+	3	739	c.308C>T	c.(307-309)gCa>gTa	p.A103V	CCDC33_ENST00000321288.5_Missense_Mutation_p.A306V	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	306										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGAGGATGCAGGGCAAGAA	0.587																																						uc002axo.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(307-309)gCa>gTa		Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.							23	26	25					15																	74554903		2072	4193	6265	SO:0001583	missense	80125						protein binding	g.chr15:74554903C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.308C>T	15.37:g.74554903C>T	ENSP00000381795:p.Ala103Val						p.A103V	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			2	702	+			306					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.308C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	9.871	1.199037	0.22121	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.38240	1.15;1.15	4.67	-2.81	0.05805	.	0.762106	0.10286	N	0.692987	T	0.22166	0.0534	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.24404	-1.0161	10	0.42905	T	0.14	.	9.4527	0.38736	0.0:0.2647:0.0:0.7353	.	103	Q8N5R6-6	.	V	306;103	ENSP00000325012:A306V;ENSP00000381795:A103V	ENSP00000325012:A306V	A	+	2	0	CCDC33	72341956	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.722000	0.04958	-0.419000	0.07439	0.462000	0.41574	GCA		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74554903	C	T	74554903	3	4	24	1	0	0	0	0	1	0	0	0	2806	710	25	3	318	3	CCDC33	15	74554903	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	32694452	74554903	27976489	53	1539											
BCL2A1	597	broad.mit.edu	37	chr15	80263133	80263133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttataggtatccacatccGgggcaatttgctgtcgtaga	9	12	10	10	2	0	1	0	0	0	1	3	1	2	1	3	3	1	4	3	3	5	5	rs143571009		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:80263133G>A	ENST00000267953.3	-	1	655	c.329C>T	c.(328-330)cCg>cTg	p.P110L	BCL2A1_ENST00000335661.6_Missense_Mutation_p.P110L	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	110					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATCCACATCCGGGGCAATTTG	0.403																																						uc002bfc.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(328-330)cCg>cTg		Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	134	139	137		329,329	-1.9	0	15	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	110/164,110/176	80263133	1,13005	2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263133G>A		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.329C>T	15.37:g.80263133G>A	ENSP00000267953:p.Pro110Leu					BCL2A1_uc002bfd.4_Missense_Mutation_p.P110L	p.P110L	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			0	511	-			110					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.329C>T	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	G	3.728	-0.056165	0.07362	0.0	1.16E-4	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.18174	2.23;2.23	5.63	-1.91	0.07641	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.726491	0.12825	N	0.436089	T	0.07413	0.0187	N	0.12502	0.225	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.36286	-0.9754	10	0.25106	T	0.35	-19.5831	6.606	0.22726	0.5593:0.1323:0.3084:0.0	.	110;110	Q86W13;Q16548	.;B2LA1_HUMAN	L	110	ENSP00000267953:P110L;ENSP00000335250:P110L	ENSP00000267953:P110L	P	-	2	0	BCL2A1	78050188	0.680000	0.27605	0.000000	0.03702	0.089000	0.18198	0.607000	0.24209	-0.219000	0.10003	-0.345000	0.07892	CCG		0.403	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		A	80263133	G	A	80263133	3	1	24	1	0	0	0	0	1	0	0	0	1366	1116	39	2	266	2	BCL2A1	15	80263133	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	5708230	80263133	22268259	54	1540											
ALPK3	57538	broad.mit.edu	37	chr15	85400203	85400203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaactcccacctacagCgggtcctagagctcctctga	9	7	7	18	1	1	2	0	1	1	1	4	2	4	2	6	1	4	1	6	1	3	2	rs142677464		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:85400203C>A	ENST00000258888.5	+	6	3007	c.2840C>A	c.(2839-2841)gCg>gAg	p.A947E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	947					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACCTACAGCGGGTCCTAGA	0.562																																						uc002ble.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2839-2841)gCg>gAg		Homo sapiens alpha-kinase 3 (ALPK3), mRNA.							76	88	84					15																	85400203		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400203C>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2840C>A	15.37:g.85400203C>A	ENSP00000258888:p.Ala947Glu						p.A947E	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	3007	+			947					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2840C>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634057	0.00806	.	.	ENSG00000136383	ENST00000258888	T	0.56275	0.47	3.94	-1.51	0.08664	.	17.448300	0.00166	N	0.000000	T	0.17152	0.0412	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36286	-0.9754	10	0.02654	T	1	-8.143	0.927	0.01327	0.3389:0.3178:0.1916:0.1517	.	947	Q96L96	ALPK3_HUMAN	E	947	ENSP00000258888:A947E	ENSP00000258888:A947E	A	+	2	0	ALPK3	83201207	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.392000	0.07314	-0.235000	0.09767	-1.743000	0.00684	GCG		0.562	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85400203	C	A	85400203	3	1	24	1	0	0	0	0	1	0	0	0	546	768	27	5	2862	5	ALPK3	15	85400203	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	5137070	85400203	17131189	55	1541											
PEX11A	8800	broad.mit.edu	37	chr15	90226684	90226684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggacacaagacctccaagtCcaatgatgccaggattggat	14	7	10	10	0	0	2	0	1	0	1	2	5	2	5	4	3	1	0	4	3	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:90226684C>T	ENST00000300056.3	-	3	817	c.668G>A	c.(667-669)gGa>gAa	p.G223E	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561257.1_Missense_Mutation_p.G192E|PEX11A_ENST00000561224.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	223					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCTCCAAGTCCAATGATGCC	0.483																																						uc002boi.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(667-669)gGa>gAa		Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.							251	251	251					15																	90226684		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226684C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"peroxisomal biogenesis factor 11A"			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.668G>A	15.37:g.90226684C>T	ENSP00000300056:p.Gly223Glu					PEX11A_uc010upy.2_Non-coding_Transcript	p.G223E	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	763	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		223					B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.668G>A	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772264	0.90108	.	.	ENSG00000166821	ENST00000300056	T	0.70399	-0.48	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88496	0.3079	10	0.87932	D	0	-13.9724	17.9471	0.89042	0.0:1.0:0.0:0.0	.	223	O75192	PX11A_HUMAN	E	223	ENSP00000300056:G223E	ENSP00000300056:G223E	G	-	2	0	PEX11A	88027688	1.000000	0.71417	0.898000	0.35279	0.998000	0.95712	7.233000	0.78125	2.711000	0.92665	0.655000	0.94253	GGA		0.483	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		T	90226684	C	T	90226684	3	4	24	1	0	0	0	0	1	0	0	0	11737	855	30	3	79	3	PEX11A	15	90226684	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	4826481	90226684	12304708	56	1542											
ALG1	56052	broad.mit.edu	37	chr16	5128838	5128838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctggtgacgcgtctccGtgagcggccagccctgctgg	3	7	17	14	5	1	2	0	2	1	0	2	2	1	2	3	4	3	2	3	4	0	0	rs529013891	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr16:5128838G>A	ENST00000262374.5	+	7	852	c.821G>A	c.(820-822)cGt>cAt	p.R274H	ALG1_ENST00000544428.1_Missense_Mutation_p.R163H|ALG1_ENST00000588623.1_Missense_Mutation_p.R163H	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	274					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGCGTCTCCGTGAGCGGCCA	0.652													G|||	4	0.000798722	0	0	5008	,	,		15773	0		0	False		,,,				2504	0.0041					uc002cym.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(820-822)cGt>cAt		Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.							22	23	23					16																	5128838		2195	4298	6493	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5128838G>A	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.821G>A	16.37:g.5128838G>A	ENSP00000262374:p.Arg274His					ALG1_uc002cyj.3_Missense_Mutation_p.R163H|ALG1_uc010bue.3_Missense_Mutation_p.R163H	p.R274H	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			6	862	+		Ovarian(90;0.0164)	274					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.821G>A	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846565	0.32606	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.75260	-0.92;-0.92	5.32	-8.55	0.00908	Glycosyl transferase, family 1 (1);	1.369170	0.03939	N	0.286543	T	0.42877	0.1222	N	0.01800	-0.715	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.34625	-0.9821	10	0.25751	T	0.34	1.3038	8.3992	0.32574	0.4533:0.4182:0.1285:0.0	.	163;274	B4DP08;Q9BT22	.;ALG1_HUMAN	H	274;163	ENSP00000262374:R274H;ENSP00000440019:R163H	ENSP00000262374:R274H	R	+	2	0	ALG1	5068839	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.126000	0.03254	-1.425000	0.01997	-1.049000	0.02347	CGT		0.652	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		A	5128838	G	A	5128838	3	1	24	1	0	0	0	0	1	0	0	0	510	1145	40	1	847	1	ALG1	16	5128838	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		5128838	85225915	57	1543											
TAX1BP3	1497	broad.mit.edu	37	chr17	3567085	3567085	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttctgcagcgactgcCgcgtcaccagcagacgcacc	7	5	11	18	5	2	1	1	0	1	1	2	2	2	1	4	1	4	3	4	1	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:3567085C>T	ENST00000046640.3	+	0	2866				TAX1BP3_ENST00000225525.3_Missense_Mutation_p.R111Q|P2RX5-TAX1BP3_ENST00000550383.1_3'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CAGCGACTGCCGCGTCACCAG	0.647																																						uc002fwc.3																			0				endometrium(1)	1						c.(331-333)cGg>cAg		Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 3 (TAX1BP3), transcript variant 1, mRNA.							27	28	27					17																	3567085		2200	4299	6499	SO:0001628	intergenic_variant	30851				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	g.chr17:3567085C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693		17.37:g.3567085C>T						TAX1BP3_uc021tnt.1_Missense_Mutation_p.R85Q|P2RX5_uc002fwd.3_Non-coding_Transcript|TAX1BP3_uc002fwe.1_3'UTR	p.R111Q	NM_014604	NP_055419	O14907	TX1B3_HUMAN		COAD - Colon adenocarcinoma(5;0.0761)	3	485	-			111			PDZ.		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	c.332G>A	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	c	33	5.241405	0.95272	.	.	ENSG00000213977	ENST00000225525	T	0.27256	1.68	5.05	4.09	0.47781	PDZ/DHR/GLGF (3);	0.000000	0.85682	U	0.000000	T	0.47985	0.1475	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50964	-0.8765	10	0.87932	D	0	.	12.8477	0.57839	0.0:0.9205:0.0:0.0795	.	111	O14907	TX1B3_HUMAN	Q	111	ENSP00000225525:R111Q	ENSP00000225525:R111Q	R	-	2	0	TAX1BP3	3513834	1.000000	0.71417	0.965000	0.40720	0.798000	0.45092	5.886000	0.69743	1.276000	0.44395	0.556000	0.70494	CGG		0.647	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		T	3567085	C	T	3567085	1	4	24	0	1	0	0	0	0	0	0	0	15592	652	23	2		2	TAX1BP3	17	3567085	IGR	SNP	C	TCGA-06-0152-01A-02W-0323-08		3567085	77628125	58	1544											
ENO3	2027	broad.mit.edu	37	chr17	4860277	4860277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcctgcattctaggatcGaggaggctcttggggacaag	8	10	14	9	1	2	0	0	0	2	0	3	4	2	3	1	5	2	2	1	5	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:4860277G>A	ENST00000323997.6	+	12	1372	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ENO3_ENST00000518175.1_Missense_Mutation_p.E414K|ENO3_ENST00000519584.1_Missense_Mutation_p.E371K	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	414					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TTCTAGGATCGAGGAGGCTCT	0.577											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vst.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(721-723)Gag>Aag		Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.							165	164	165					17																	4860277		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4860277G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1240G>A	17.37:g.4860277G>A	ENSP00000324105:p.Glu414Lys		OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	ENO3_uc002gab.4_Missense_Mutation_p.E414K|ENO3_uc002gac.4_Missense_Mutation_p.E414K|ENO3_uc010vss.2_Missense_Mutation_p.E371K	p.E241K	NM_001193503	NP_001180432	P13929	ENOB_HUMAN			7	903	+			414					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.721G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438508	0.96168	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	T;T;T	0.62105	0.05;0.05;0.05	5.93	5.93	0.95920	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.91663	3.23	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;P;D	0.63488	0.915;0.778;0.915	D	0.86040	0.1519	10	0.87932	D	0	-26.8125	17.9021	0.88907	0.0:0.0:1.0:0.0	.	414;371;414	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	K	414;371;414	ENSP00000324105:E414K;ENSP00000430636:E371K;ENSP00000431087:E414K	ENSP00000324105:E414K	E	+	1	0	ENO3	4801001	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.670000	0.68088	2.833000	0.97629	0.650000	0.86243	GAG		0.577	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			A	4860277	G	A	4860277	3	1	24	1	0	0	0	0	1	0	0	0	5123	1059	37	2	1282	2	ENO3	17	4860277	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1293192	4860277	76334933	59	1545											
ALOX12B	242	broad.mit.edu	37	chr17	7984477	7984477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtgctccaggaggacGgggagcgagtcatctgctgt	6	11	15	9	2	3	0	1	0	2	0	4	4	4	3	1	4	3	2	1	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:7984477G>A	ENST00000319144.4	-	3	641	c.381C>T	c.(379-381)ccC>ccT	p.P127P	AC129492.6_ENST00000399413.3_3'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	127	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		P -> S (in ARCI2). {ECO:0000269|PubMed:16116617}.		arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCAGGAGGACGGGGAGCGAGT	0.617										Multiple Myeloma(8;0.094)																												uc002gjy.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(379-381)ccC>ccT		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							83	69	74					17																	7984477		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984477G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.381C>T	17.37:g.7984477G>A		Multiple Myeloma(8;0.094)				BC046191_uc010cnq.2_Non-coding_Transcript	p.P127P	NM_001139	NP_001130	O75342	LX12B_HUMAN			2	642	-			127			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.381C>T	CCDS11129.1																																																																																				0.617	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			A	7984477	G	A	7984477	2	1	24	1	0	0	0	0	0	0	0	1	537	1103	39	2		2	ALOX12B	17	7984477	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	3124200	7984477	73210733	60	1546											
USH1G	124590	broad.mit.edu	37	chr17	72916074	72916074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggctcggccgccagcgtgGcacgggagacgctgtcctcg	5	5	16	15	6	0	1	0	0	0	1	3	2	1	1	3	4	1	3	3	4	0	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:72916074G>A	ENST00000319642.1	-	2	1039	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	286					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCCAGCGTGGCACGGGAGAC	0.687																																						uc002jme.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(856-858)gCc>gTc		Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.							37	47	44					17																	72916074		2200	4295	6495	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916074G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.857C>T	17.37:g.72916074G>A	ENSP00000320076:p.Ala286Val					USH1G_uc010wro.1_Missense_Mutation_p.A183V	p.A286V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			1	1040	-	all_lung(278;0.172)|Lung NSC(278;0.207)		286					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.857C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778279	0.70107	.	.	ENSG00000182040	ENST00000319642	T	0.71222	-0.55	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55481	1.735	0.80722	D	1	P	0.39480	0.675	B	0.30105	0.111	T	0.64571	-0.6376	10	0.27082	T	0.32	-25.9375	16.8778	0.86056	0.0:0.0:1.0:0.0	.	286	Q495M9	USH1G_HUMAN	V	286	ENSP00000320076:A286V	ENSP00000320076:A286V	A	-	2	0	USH1G	70427669	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	2.227000	0.72691	0.485000	0.47835	GCC		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		A	72916074	G	A	72916074	3	1	24	1	0	0	0	0	1	0	0	0	17032	1203	42	3	536	3	USH1G	17	72916074	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	64931597	72916074	8279136	61	1547											
FOXJ1	2302	broad.mit.edu	37	chr17	74136123	74136123	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtagggaggcttcacgtgCggattggtggcgtagtccac	7	9	17	8	3	1	0	1	0	0	0	2	3	2	2	1	5	1	3	1	5	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:74136123C>A	ENST00000322957.6	-	2	708	c.354G>T	c.(352-354)ccG>ccT	p.P118P	RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	118					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTTCACGTGCGGATTGGTGG	0.667																																						uc002jqx.3																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(352-354)ccG>ccT		Homo sapiens forkhead box J1 (FOXJ1), mRNA.							74	55	62					17																	74136123		2203	4300	6503	SO:0001819	synonymous_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74136123C>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.354G>T	17.37:g.74136123C>A						LOC100507218_uc002jqy.2_5'Flank	p.P118P	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		1	709	-			118					O00630	Silent	SNP	ENST00000322957.6	37	c.354G>T	CCDS32739.1																																																																																				0.667	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		A	74136123	C	A	74136123	2	1	24	1	0	0	0	0	0	0	0	1	6011	755	27	5		5	FOXJ1	17	74136123	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	1220049	74136123	7059087	62	1548											
FAM59A	64762	broad.mit.edu	37	chr18	29890192	29890192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcctccatgacgtacacGcgttcaggaaatgccttagc	11	10	8	12	3	1	1	1	1	0	0	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:29890192G>A	ENST00000269209.6	-	3	360	c.357C>T	c.(355-357)cgC>cgT	p.R119R	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Silent_p.R119R			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	119	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TGACGTACACGCGTTCAGGAA	0.413																																						uc002kxl.3																			0		p.R119C(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						c.(355-357)cgC>cgT		Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.							250	213	225					18																	29890192		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29890192G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.357C>T	18.37:g.29890192G>A						FAM59A_uc002kxk.2_Silent_p.R119R	p.R119R	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN			2	413	-			119			CABIT.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.357C>T	CCDS56057.1																																																																																				0.413	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		A	29890192	G	A	29890192	2	1	24	1	0	0	0	0	0	0	0	1	5592	1074	38	1		1	FAM59A	18	29890192	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		29890192	48187056	63	1549											
SERPINB5	5268	broad.mit.edu	37	chr18	61156656	61156656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagataaattggaagaaaCgaaaggtcagatcaacaact	21	6	8	6	1	2	3	2	0	0	3	2	5	2	4	0	2	3	0	0	2	8	2	rs145559318		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:61156656C>T	ENST00000382771.4	+	4	675	c.383C>T	c.(382-384)aCg>aTg	p.T128M	SERPINB5_ENST00000489441.1_Missense_Mutation_p.T128M	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	128					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTGGAAGAAACGAAAGGTCAG	0.388																																						uc002liz.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(382-384)aCg>aTg		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.							121	114	117					18																	61156656		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61156656C>T	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.383C>T	18.37:g.61156656C>T	ENSP00000372221:p.Thr128Met					SERPINB5_uc002liy.2_Missense_Mutation_p.T128M	p.T128M	NM_002639	NP_002630	P36952	SPB5_HUMAN			3	525	+			128					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.383C>T	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610883	0.87258	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84730	-1.89;-1.85	5.75	5.75	0.90469	Serpin domain (3);	0.064498	0.64402	D	0.000004	D	0.93743	0.8000	M	0.87038	2.855	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.93834	0.7130	10	0.72032	D	0.01	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	128;128	P36952;P36952-2	SPB5_HUMAN;.	M	128	ENSP00000372221:T128M;ENSP00000408821:T128M	ENSP00000372221:T128M	T	+	2	0	SERPINB5	59307636	0.996000	0.38824	0.996000	0.52242	0.993000	0.82548	3.725000	0.54970	2.880000	0.98712	0.655000	0.94253	ACG		0.388	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		T	61156656	C	T	61156656	3	4	24	1	0	0	0	0	1	0	0	0	14104	536	19	1	393	1	SERPINB5	18	61156656	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	31266464	61156656	16920592	64	1550											
MUC16	94025	broad.mit.edu	37	chr19	9067989	9067989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctactcgtaagagtggacAaatctaattgtgaaaatcca	15	11	7	8	1	2	2	0	1	2	1	4	3	3	3	1	1	1	1	1	1	6	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:9067989A>G	ENST00000397910.4	-	3	19660	c.19457T>C	c.(19456-19458)tTg>tCg	p.L6486S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6488	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTGGACAAATCTAATTG	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19456-19458)tTg>tCg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							163	162	162					19																	9067989		1983	4156	6139	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067989A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19457T>C	19.37:g.9067989A>G	ENSP00000381008:p.Leu6486Ser						p.L6486S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	19661	-			6488			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19457T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.585	-0.296628	0.05532	.	.	ENSG00000181143	ENST00000397910	T	0.23754	1.89	1.83	-2.91	0.05631	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.19943	-1.0290	8	0.87932	D	0	.	5.8134	0.18479	0.3195:0.0:0.0:0.6805	.	6486	B5ME49	.	S	6486	ENSP00000381008:L6486S	ENSP00000381008:L6486S	L	-	2	0	MUC16	8928989	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.254000	0.08781	-0.871000	0.04042	0.149000	0.16113	TTG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9067989	A	G	9067989	3	3	24	1	0	0	0	0	1	0	0	0	9973	131	5	4	24394	4	MUC16	19	9067989	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08		9067989	50060994	65	1551											
SLC44A2	57153	broad.mit.edu	37	chr19	10742381	10742381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacgacctatgaggatggGcatggctcccggaaaaacat	13	6	13	9	2	0	2	0	1	0	1	1	6	1	4	2	4	1	2	2	4	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:10742381G>A	ENST00000335757.5	+	8	958	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SLC44A2_ENST00000407327.4_Silent_p.G192G|SLC44A2_ENST00000586078.1_Silent_p.G194G			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	194					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGAGGATGGGCATGGCTCCC	0.602																																						uc002mpf.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(580-582)ggG>ggA		Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	Choline(DB00122)						68	64	66					19																	10742381		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742381G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.582G>A	19.37:g.10742381G>A						SLC44A2_uc002mpe.4_Silent_p.G192G	p.G194G	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		7	721	+			194					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.582G>A	CCDS12245.1																																																																																				0.602	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			A	10742381	G	A	10742381	2	1	24	1	0	0	0	0	0	0	0	1	14636	1190	42	3		3	SLC44A2	19	10742381	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	1674392	10742381	48386602	66	1552											
PSG7	5676	broad.mit.edu	37	chr19	43429925	43429925	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgggatccacttacCagagactctgactgtcacgg	9	9	12	11	1	2	2	1	1	1	1	3	5	3	4	2	3	2	1	2	3	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:43429925C>A	ENST00000406070.2	-	0	1339				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ATCCACTTACCAGAGACTCTG	0.483																																						uc002ovl.4																			0											c.e6+1		Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.							195	197	196					19																	43429925		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43429925C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429925C>A						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Splice_Site_p.D293_splice	p.D414_splice	NM_002783	NP_002774	Q13046	PSG7_HUMAN			6	1342	-		Prostate(69;0.00682)	415					Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.1240_splice																																																																																					0.483	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		A	43429925	C	A	43429925	1	1	24	0	1	0	0	0	0	0	0	0	12660	608	21	5		5	PSG7	19	43429925	RNA	SNP	C	TCGA-06-0152-01A-02W-0323-08	32687544	43429925	15699058	67	1553											
ZNF45	7596	broad.mit.edu	37	chr19	44417709	44417709	+	Frame_Shift_Del	DEL	G	G	-																															aactctttgatgggcttgaaGgtatgagctccagctgaaga																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:44417709delG	ENST00000269973.5	-	10	2969	c.1879delC	c.(1879-1881)cttfs	p.L627fs	ZNF45_ENST00000589703.1_Frame_Shift_Del_p.L627fs|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	627					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGGCTTGAAGGTATGAGCTC	0.488																																						uc002oxu.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1879-1881)cttfs		Homo sapiens zinc finger protein 45 (ZNF45), mRNA.							162	141	148					19																	44417709		2203	4300	6503	SO:0001589	frameshift_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417709delG	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1879delC	19.37:g.44417709delG	ENSP00000269973:p.Leu627fs					ZNF45_uc002oxw.2_Frame_Shift_Del_p.L627fs	p.L627fs	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			3	1978	-			627					P17016|P78472|Q9P1U9	Frame_Shift_Del	DEL	ENST00000269973.5	37	c.1879delC	CCDS12632.1																																																																																				0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		-	44417709	G	-	44417709	7	5	24	1	0	1	0	1	0	0	0	0	17918	1000	35	0	173	0	ZNF45	19	44417709	Frame_Shift_Del	DEL	G	TCGA-06-0152-01A-02W-0323-08	987784	44417709	14711274	68	1554											
CEACAM20	125931	broad.mit.edu	37	chr19	45029207	45029207	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacatcctcactttgggtGgcatcaagtgggttggcatt	9	12	11	9	0	2	0	2	0	0	0	3	0	3	0	1	4	1	3	1	4	2	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:45029207G>A	ENST00000454753.1	-	0	401							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTTTGGGTGGCATCAAGTG	0.562																																						uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(121-123)gcC>gcT		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							115	123	120					19																	45029207		2077	4215	6292			125931					integral to membrane		g.chr19:45029207G>A	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029207G>A						CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A	p.A41A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			1	139	-		Prostate(69;0.0352)	41		A -> V (in dbSNP:rs10408247).				Silent	SNP	ENST00000454753.1	37	c.123C>T																																																																																					0.562	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		A	45029207	G	A	45029207	1	1	24	0	1	0	0	0	0	0	0	0	3191	1335	47	3		3	CEACAM20	19	45029207	RNA	SNP	G	TCGA-06-0152-01A-02W-0323-08	611498	45029207	14099776	69	1555											
ZNF83	55769	broad.mit.edu	37	chr19	53116375	53116375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgaaatgtttctcTccagtgtggatcgcatgatg	9	16	9	7	1	1	2	0	2	1	0	4	3	2	3	1	1	1	2	1	1	2	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:53116375T>C	ENST00000597597.1	-	2	3696	c.1443A>G	c.(1441-1443)ggA>ggG	p.G481G	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.G481G|ZNF83_ENST00000545872.1_Silent_p.G481G|ZNF83_ENST00000541777.2_Silent_p.G481G|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Silent_p.G481G|ZNF83_ENST00000391789.4_Silent_p.G453G|ZNF83_ENST00000301096.3_Silent_p.G481G|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AATGTTTCTCTCCAGTGTGGA	0.388																																						uc002pzu.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1441-1443)ggA>ggG		Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.							138	128	132					19																	53116375		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116375T>C	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1443A>G	19.37:g.53116375T>C						ZNF83_uc002pzv.4_Silent_p.G481G|ZNF83_uc010eps.3_Silent_p.G453G|ZNF83_uc010ept.3_Silent_p.G481G|ZNF83_uc010epu.3_Silent_p.G481G|ZNF83_uc010epw.3_Silent_p.G481G|ZNF83_uc010epv.3_Silent_p.G481G|ZNF83_uc010epx.3_Silent_p.G453G|ZNF83_uc010epy.3_Silent_p.G481G|ZNF83_uc010epz.3_Silent_p.G453G|ZNF83_uc010eqb.2_Silent_p.G453G|ZNF83_uc021uyx.1_Silent_p.G481G	p.G481G	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	1	2687	-			481					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1443A>G	CCDS12854.1																																																																																				0.388	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		C	53116375	T	C	53116375	2	2	24	1	0	0	0	0	0	0	0	1	18180	1538	54	4		4	ZNF83	19	53116375	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	8087168	53116375	6012608	70	1556											
TMC4	147798	broad.mit.edu	37	chr19	54669199	54669199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagccgcacgtggacgTccccgcagagaccgaagtcc	8	3	14	16	6	0	1	0	0	0	1	2	4	2	2	5	2	1	3	5	2	1	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:54669199T>G	ENST00000376591.4	-	6	1048	c.917A>C	c.(916-918)gAc>gCc	p.D306A	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.D300A|TMC4_ENST00000476013.2_Intron	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	306					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACGTGGACGTCCCCGCAGAG	0.632																																						uc010erf.3																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(916-918)gAc>gCc		Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.							44	37	40					19																	54669199		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54669199T>G	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.917A>C	19.37:g.54669199T>G	ENSP00000365776:p.Asp306Ala					TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Missense_Mutation_p.D300A	p.D306A	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			5	1049	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		306					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.917A>C	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	T	9.431	1.085595	0.20390	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.49139	0.79;0.79	4.8	2.33	0.28932	.	0.497596	0.22835	N	0.055041	T	0.33760	0.0874	L	0.39245	1.2	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.004;0.005	T	0.17899	-1.0354	10	0.18276	T	0.48	-6.9361	8.8908	0.35432	0.0:0.0:0.4717:0.5283	.	306;300	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	A	300;306	ENSP00000301187:D300A;ENSP00000365776:D306A	ENSP00000301187:D300A	D	-	2	0	TMC4	59361011	0.001000	0.12720	0.549000	0.28204	0.829000	0.46940	0.556000	0.23438	0.782000	0.33613	0.529000	0.55759	GAC		0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			G	54669199	T	G	54669199	3	3	24	1	0	0	0	0	1	0	0	0	15984	1667	58	5	1261	5	TMC4	19	54669199	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	1552824	54669199	4459784	71	1557											
NLRP9	338321	broad.mit.edu	37	chr19	56244390	56244390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaatgcaataaggagagaGgattctggaagcatcttttt	13	12	10	6	0	2	1	0	0	2	1	2	5	2	4	1	3	2	2	1	3	4	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:56244390G>A	ENST00000332836.2	-	2	834	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	269	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAAGGAGAGAGGATTCTGGAA	0.408																																						uc002qly.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(805-807)tcC>tcT		Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.							62	62	62					19																	56244390		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244390G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.807C>T	19.37:g.56244390G>A							p.S269S	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	835	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	269			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.807C>T	CCDS12934.1																																																																																				0.408	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56244390	G	A	56244390	2	1	24	1	0	0	0	0	0	0	0	1	10484	987	35	3		3	NLRP9	19	56244390	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	1575191	56244390	2884593	72	1558											
PLCB1	23236	broad.mit.edu	37	chr20	8352082	8352082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccagatgtgggagacaCgccaaagctcccaaggtagg	12	5	14	10	1	0	2	0	0	0	2	1	4	1	2	3	3	2	2	3	3	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:8352082C>T	ENST00000338037.6	+	3	258	c.231C>T	c.(229-231)caC>caT	p.H77H	PLCB1_ENST00000378641.3_Silent_p.H77H|PLCB1_ENST00000378637.2_Silent_p.H77H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	77					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGGGAGACACGCCAAAGCTC	0.468																																						uc002wnb.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(229-231)caC>caT		Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.							168	135	146					20																	8352082		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8352082C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.231C>T	20.37:g.8352082C>T						PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.3_Silent_p.H77H	p.H77H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			2	234	+			77					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.231C>T	CCDS13102.1																																																																																				0.468	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			T	8352082	C	T	8352082	2	4	24	1	0	0	0	0	0	0	0	1	12027	535	19	1		1	PLCB1	20	8352082	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		8352082	54673438	73	1559											
SSTR4	6754	broad.mit.edu	37	chr20	23016952	23016952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggatgcctttctacgtgGtgcagctgctgaacctcttc	5	13	11	12	1	2	1	0	1	2	0	3	2	2	2	2	2	6	4	2	2	2	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:23016952G>T	ENST00000255008.3	+	1	896	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	278					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTTCTACGTGGTGCAGCTGCT	0.577																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(832-834)Gtg>Ttg		Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.							203	209	207					20																	23016952		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016952G>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.832G>T	20.37:g.23016952G>T	ENSP00000255008:p.Val278Leu						p.V278L	NM_001052	NP_001043	P31391	SSR4_HUMAN			0	896	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		278					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.832G>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351465	0.24512	.	.	ENSG00000132671	ENST00000255008	T	0.71698	-0.59	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	T	0.53802	0.1819	N	0.21448	0.665	0.44677	D	0.997669	B	0.15930	0.015	B	0.23716	0.048	T	0.46610	-0.9179	10	0.09084	T	0.74	.	13.4152	0.60963	0.0:0.0:1.0:0.0	.	278	P31391	SSR4_HUMAN	L	278	ENSP00000255008:V278L	ENSP00000255008:V278L	V	+	1	0	SSTR4	22964952	0.998000	0.40836	0.976000	0.42696	0.649000	0.38597	2.020000	0.41010	1.694000	0.51137	0.655000	0.94253	GTG		0.577	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			T	23016952	G	T	23016952	3	4	24	1	0	0	0	0	1	0	0	0	15199	1261	44	5	834	5	SSTR4	20	23016952	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	14664870	23016952	40008568	74	1560											
PREX1	57580	broad.mit.edu	37	chr20	47244458	47244458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcaacccgtggctccGtgccaagatggccgcctgct	6	6	14	15	3	0	1	0	0	0	1	1	1	1	1	5	3	4	4	5	3	2	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:47244458G>A	ENST00000371941.3	-	38	4832	c.4810C>T	c.(4810-4812)Cgg>Tgg	p.R1604W	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1604					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1604W(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGTGGCTCCGTGCCAAGATG	0.692																																						uc002xtw.1																			1	Substitution - Missense(1)	p.R1604W(2)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(4810-4812)Cgg>Tgg		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							48	36	40					20																	47244458		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47244458G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4810C>T	20.37:g.47244458G>A	ENSP00000361009:p.Arg1604Trp					PREX1_uc021wer.1_5'Flank|PREX1_uc002xtv.1_Missense_Mutation_p.R901W	p.R1604W	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		37	4833	-			1604					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4810C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.130666	0.77549	.	.	ENSG00000124126	ENST00000371941	T	0.65178	-0.14	4.31	4.31	0.51392	.	0.000000	0.48767	U	0.000173	T	0.78991	0.4371	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82860	-0.0248	10	0.87932	D	0	.	16.7877	0.85578	0.0:0.0:1.0:0.0	.	1604;901	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	1604	ENSP00000361009:R1604W	ENSP00000361009:R1604W	R	-	1	2	PREX1	46677865	1.000000	0.71417	0.960000	0.40013	0.889000	0.51656	3.431000	0.52814	1.949000	0.56562	0.457000	0.33378	CGG		0.692	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47244458	G	A	47244458	3	1	24	1	0	0	0	0	1	0	0	0	12476	1144	40	1	181	1	PREX1	20	47244458	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	24227506	47244458	15781062	75	1561											
KCNG1	3755	broad.mit.edu	37	chr20	49621144	49621144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcgccgggcttgcgaCggcctgcggcggcgccgtcc	1	5	17	18	9	0	0	0	0	0	0	1	1	1	0	5	4	3	1	5	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:49621144C>T	ENST00000371571.4	-	3	1259	c.974G>A	c.(973-975)cGt>cAt	p.R325H	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	325					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGCTTGCGACGGCCTGCGGC	0.701																																						uc002xwa.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(973-975)cGt>cAt		Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.							9	11	10					20																	49621144		2178	4240	6418	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49621144C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.974G>A	20.37:g.49621144C>T	ENSP00000360626:p.Arg325His						p.R325H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	1269	-			325					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.974G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745685	0.30955	.	.	ENSG00000026559	ENST00000371571	D	0.98455	-4.94	5.0	3.94	0.45596	Ion transport (1);	0.476872	0.23828	N	0.044164	D	0.91496	0.7315	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	D	0.85005	0.0902	9	.	.	.	.	2.4658	0.04553	0.0:0.4087:0.2949:0.2964	.	325	Q9UIX4	KCNG1_HUMAN	H	325	ENSP00000360626:R325H	.	R	-	2	0	KCNG1	49054551	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	1.807000	0.38902	2.326000	0.78906	0.306000	0.20318	CGT		0.701	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		T	49621144	C	T	49621144	3	4	24	1	0	0	0	0	1	0	0	0	8027	536	19	1	571	1	KCNG1	20	49621144	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	2376686	49621144	13404376	76	1562											
SCARF2	91179	broad.mit.edu	37	chr22	20784714	20784714	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggtcccggggcactcActggggcccgtggacgccag	4	5	15	17	4	1	0	1	0	0	0	3	1	3	1	4	6	0	1	4	6	0	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:20784714A>C	ENST00000266214.5	-	6	1307		c.e6+1		SCARF2_ENST00000405555.3_Splice_Site	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGGCACTCACTGGGGCCCG	0.711																																						uc002zsj.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.e6+1		Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.							6	7	6					22																	20784714		2135	4202	6337	SO:0001630	splice_region_variant	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20784714A>C	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1202+1T>G	22.37:g.20784714A>C						SCARF2_uc002zsk.2_Splice_Site_p.H401_splice	p.H401_splice	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1307	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	401			EGF-like 7.		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Splice_Site	SNP	ENST00000266214.5	37	c.1202_splice	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.651381	0.67472	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9542	0.52973	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCARF2	19114714	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.044000	0.89434	1.774000	0.52232	0.459000	0.35465	.		0.711	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		Intron	C	20784714	A	C	20784714	5	2	24	1	0	0	0	0	0	0	1	0	13884	173	6	5	1432	5	SCARF2	22	20784714	Splice_Site	SNP	A	TCGA-06-0152-01A-02W-0323-08		20784714	30519852	77	1563											
CACNA1I	8911	broad.mit.edu	37	chr22	40078576	40078576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttgtcctctacggccGtctcgccggatccagagaac	6	9	9	17	4	2	1	0	0	2	1	6	3	5	2	6	2	2	0	6	2	2	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:40078576G>A	ENST00000402142.3	+	35	5740	c.5740G>A	c.(5740-5742)Gtc>Atc	p.V1914I	CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1879I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1879I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1879I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1914I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.V1920I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1914					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTACGGCCGTCTCGCCGGA	0.592																																						uc003ayc.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5740-5742)Gtc>Atc		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						82	88	86					22																	40078576		2030	4174	6204	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40078576G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5740G>A	22.37:g.40078576G>A	ENSP00000385019:p.Val1914Ile					CACNA1I_uc003ayd.3_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.3_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.3_Missense_Mutation_p.V1794I	p.V1914I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			34	5740	+	Melanoma(58;0.0749)		1914					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5740G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	3.946	-0.013226	0.07727	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96745	-4.09;-4.05;-4.08;-4.04;-4.11;-4.02	4.94	0.385	0.16249	.	4.283210	0.00649	N	0.000551	D	0.93713	0.7991	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.15141	0.012;0.012;0.003;0.002	B;B;B;B	0.08055	0.003;0.003;0.002;0.001	T	0.82285	-0.0533	10	0.21540	T	0.41	.	10.1594	0.42842	0.2793:0.0:0.7207:0.0	.	1879;1914;1879;1914	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1914;1879;1914;1879;1920;1879	ENSP00000385019:V1914I;ENSP00000384093:V1879I;ENSP00000383887:V1914I;ENSP00000385680:V1879I;ENSP00000337829:V1920I;ENSP00000383028:V1879I	ENSP00000337829:V1920I	V	+	1	0	CACNA1I	38408522	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.079000	0.14782	0.159000	0.19401	-1.655000	0.00754	GTC		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		A	40078576	G	A	40078576	3	1	24	1	0	0	0	0	1	0	0	0	2546	1145	40	1	5878	1	CACNA1I	22	40078576	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	19293862	40078576	11225990	78	1564											
CLCNKA	1187	broad.mit.edu	37	chr1	16355293	16355293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggccaccttgcttctcGcctccatcacctacccgcct	4	11	5	21	2	3	0	1	0	2	0	5	0	4	0	7	1	2	1	7	1	1	3	rs369364364		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:16355293G>A	ENST00000331433.4	+	11	1025	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CLCNKA_ENST00000420078.1_Missense_Mutation_p.A336T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A293T|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A336T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	336					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTGCTTCTCGCCTCCATCAC	0.632																																						uc001axu.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1006-1008)Gcc>Acc		Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	Niflumic Acid(DB04552)	G	THR/ALA,THR/ALA	0,4406		0,0,2203	194	141	159		1006,1006	3.4	0.9	1		159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	336/687,336/688	16355293	2,13004	2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16355293G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1006G>A	1.37:g.16355293G>A	ENSP00000332771:p.Ala336Thr					CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.A293T|CLCNKA_uc001axv.3_Missense_Mutation_p.A336T|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H|CLCNKA_uc021ogl.1_5'Flank	p.A336T	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1086	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	336					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1006G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424063	0.62733	0.0	2.33E-4	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	3.37	3.37	0.38596	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.71036	2.16	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.996	D	0.95442	0.8526	10	0.56958	D	0.05	.	9.7591	0.40522	0.0:0.0:0.7934:0.2066	.	293;336;336	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	T	336;336;293;336	ENSP00000364844:A336T;ENSP00000410353:A336T;ENSP00000414445:A293T;ENSP00000332771:A336T	ENSP00000332771:A336T	A	+	1	0	CLCNKA	16227880	1.000000	0.71417	0.876000	0.34364	0.446000	0.32137	3.272000	0.51616	1.885000	0.54596	0.313000	0.20887	GCC		0.632	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			A	16355293	G	A	16355293	3	1	25	1	0	0	0	0	1	0	0	0	3469	1087	38	1	1044	1	CLCNKA	1	16355293	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		16355293	232895328	1	1565											
LRRC7	57554	broad.mit.edu	37	chr1	70503971	70503971	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtttgttgctgaggaaAccacagccgagaatgccaac	12	7	12	10	1	0	2	0	1	0	1	0	4	0	3	3	2	5	3	3	2	3	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:70503971A>G	ENST00000035383.5	+	19	2380	c.2350A>G	c.(2350-2352)Acc>Gcc	p.T784A	LRRC7_ENST00000310961.5_Missense_Mutation_p.T789A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T68A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	784						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCTGAGGAAACCACAGCCGA	0.488																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2350-2352)Acc>Gcc		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							151	133	139					1																	70503971		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503971A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2350A>G	1.37:g.70503971A>G	ENSP00000035383:p.Thr784Ala					LRRC7_uc009wbg.3_Missense_Mutation_p.T68A|LRRC7_uc001deq.3_Missense_Mutation_p.T25A	p.T784A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	2380	+			784					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2350A>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.006791	0.00426	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.35421	1.31;1.39;2.49	5.68	-7.27	0.01461	.	0.585459	0.18741	N	0.132457	T	0.02342	0.0072	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28808	-1.0032	10	0.07175	T	0.84	.	10.1245	0.42641	0.3862:0.1074:0.5064:0.0	.	68;784;784	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	789;784;68;607	ENSP00000309245:T789A;ENSP00000035383:T784A;ENSP00000394867:T68A	ENSP00000035383:T784A	T	+	1	0	LRRC7	70276559	0.248000	0.23930	0.000000	0.03702	0.057000	0.15508	0.273000	0.18662	-1.744000	0.01338	-0.621000	0.04028	ACC		0.488	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		G	70503971	A	G	70503971	3	3	25	1	0	0	0	0	1	0	0	0	9020	43	2	4	2424	4	LRRC7	1	70503971	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08	54148678	70503971	178746650	2	1566											
MCOLN3	55283	broad.mit.edu	37	chr1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcataagcatgattcccaaCggagacattgtatagctgca	13	10	8	10	1	1	2	1	1	0	1	2	3	2	2	1	1	4	4	1	1	4	5	rs144793042	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:85499910C>T	ENST00000370589.2	-	4	473	c.421G>A	c.(421-423)Gtt>Att	p.V141I	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V141I|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V85I	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	141					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													C|||	3	0.000599042	0.0023	0	5008	,	,		19208	0		0	False		,,,				2504	0					uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(421-423)Gtt>Att		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.		C	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	128	110	116		421	3.9	0.4	1	dbSNP_134	116	0,8600		0,0,4300	yes	missense	MCOLN3	NM_018298.9	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	141/554	85499910	8,12998	2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85499910C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.421G>A	1.37:g.85499910C>T	ENSP00000359621:p.Val141Ile					MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	p.V141I	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	3	568	-			141					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.421G>A	CCDS701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.63	1.405559	0.25378	0.001816	0.0	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.59906	0.23;0.23;0.23	5.86	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.39147	1.195	0.31994	N	0.604203	P;D;D	0.57257	0.911;0.979;0.965	B;P;B	0.44772	0.369;0.46;0.271	T	0.08269	-1.0730	10	0.13853	T	0.58	2.7027	11.2681	0.49122	0.126:0.8075:0.0:0.0664	.	141;85;141	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	I	141;141;85;85;141	ENSP00000359621:V141I;ENSP00000342698:V85I;ENSP00000359619:V141I	ENSP00000304843:V141I	V	-	1	0	MCOLN3	85272498	0.181000	0.23161	0.397000	0.26308	0.107000	0.19398	0.771000	0.26633	1.441000	0.47550	0.655000	0.94253	GTT		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		T	85499910	C	T	85499910	3	4	25	1	0	0	0	0	1	0	0	0	9397	536	19	1	1280	1	MCOLN3	1	85499910	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	14995939	85499910	163750711	3	1567											
RPL5	6125	broad.mit.edu	37	chr1	93301746	93301746	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacattggtttcttgaataGcttctcaataggtttggcat	9	18	8	6	0	2	1	1	1	2	0	3	1	2	1	0	3	2	4	0	3	5	8			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:93301746G>C	ENST00000370321.3	+	5	414		c.e5-1		SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTCTTGAATAGCTTCTCAATA	0.398																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.e5-1		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							122	129	126					1																	93301746		2203	4300	6503	SO:0001630	splice_region_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301746G>C	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.325-1G>C	1.37:g.93301746G>C						FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Intron|RPL5_uc001dpb.3_Splice_Site_p.L59_splice|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	p.L109_splice	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	403	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	109					Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	c.325_splice	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990231	0.35131	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5435	0.87854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93074334	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	9.706000	0.98722	2.107000	0.64212	0.460000	0.39030	.		0.398	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	Intron	C	93301746	G	C	93301746	5	2	25	1	0	0	0	0	0	0	1	0	13597	985	34	5	342	5	RPL5	1	93301746	Splice_Site	SNP	G	TCGA-06-0154-01A-03D-1491-08	7801836	93301746	155948875	4	1568											
C1orf161	126868	broad.mit.edu	37	chr1	116675825	116675825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagcaaagcatttctgCgcctggtgaggaaactgcac	10	10	10	11	1	3	1	1	1	2	0	3	2	3	2	1	2	5	3	1	2	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:116675825C>T	ENST00000369500.3	+	7	1193	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	310										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGCATTTCTGCGCCTGGTGAG	0.507																																						uc001egc.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(928-930)Cgc>Tgc		Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.							78	67	71					1																	116675825		2203	4300	6503	SO:0001583	missense	126868							g.chr1:116675825C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.928C>T	1.37:g.116675825C>T	ENSP00000358512:p.Arg310Cys						p.R310C	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN			6	1193	+			310					Q5TDL7	Missense_Mutation	SNP	ENST00000369500.3	37	c.928C>T	CCDS886.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298572	0.60195	.	.	ENSG00000173212	ENST00000369500	T	0.09073	3.02	5.57	4.59	0.56863	.	0.095117	0.41823	D	0.000807	T	0.07818	0.0196	M	0.81682	2.555	0.80722	D	1	P	0.48294	0.908	B	0.38428	0.273	T	0.06516	-1.0822	10	0.54805	T	0.06	-5.3588	14.9938	0.71415	0.2122:0.7878:0.0:0.0	.	310	Q8N8X9	MB213_HUMAN	C	310	ENSP00000358512:R310C	ENSP00000358512:R310C	R	+	1	0	MAB21L3	116477348	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.238000	0.51352	2.780000	0.95670	0.655000	0.94253	CGC		0.507	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		T	116675825	C	T	116675825	3	4	25	1	0	0	0	0	1	0	0	0	2009	768	27	1	950	1	C1orf161	1	116675825	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	23374079	116675825	132574796	5	1569											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530514	150530514	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggaatttggggggggTggctcctcggtgcccccgga	4	7	19	11	3	0	0	0	0	0	0	2	2	1	2	3	9	1	2	3	9	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:150530514T>G	ENST00000369038.2	+	12	2472	c.2271T>G	c.(2269-2271)ggT>ggG	p.G757G	ADAMTSL4_ENST00000369041.5_Silent_p.G757G|ADAMTSL4_ENST00000369039.5_Silent_p.G780G|ADAMTSL4_ENST00000271643.4_Silent_p.G757G|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	757	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGGGGGGGGTGGCTCCTCGG	0.692																																						uc009wlw.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2338-2340)ggT>ggG		Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.							44	50	48					1																	150530514		2185	4259	6444	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530514T>G	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2271T>G	1.37:g.150530514T>G						ADAMTSL4_uc001euw.3_Silent_p.G757G|ADAMTSL4_uc001eux.3_Silent_p.G757G|ADAMTSL4_uc010pcg.2_Silent_p.G718G|ADAMTSL4_uc009wlx.3_5'UTR	p.G780G	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		13	2498	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		757			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.2340T>G	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		G	150530514	T	G	150530514	2	3	25	1	0	0	0	0	0	0	0	1	277	1683	59	5		5	ADAMTSL4	1	150530514	Silent	SNP	T	TCGA-06-0154-01A-03D-1491-08	33854689	150530514	98720107	6	1570											
FLG	2312	broad.mit.edu	37	chr1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctgactggccacgtgCggactctttgtggctctgct	3	13	11	14	2	2	1	0	1	2	0	3	2	3	2	3	3	2	2	3	3	0	2	rs148844389	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:152283083C>T	ENST00000368799.1	-	3	4314	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1427	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACGTGCGGACTCTTTG	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4279-4281)Gca>Aca		Homo sapiens filaggrin (FLG), mRNA.		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	203	204	203		4279	-6.3	0	1	dbSNP_134	203	7,8593	5.7+/-21.5	0,7,4293	no	missense	FLG	NM_002016.1	58	0,9,6494	TT,TC,CC		0.0814,0.0454,0.0692	benign	1427/4062	152283083	9,12997	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283083C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4279G>A	1.37:g.152283083C>T	ENSP00000357789:p.Ala1427Thr					AK056431_uc001ezv.3_5'Flank	p.A1427T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1427			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4279G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112200	0.08831	4.54E-4	8.14E-4	ENSG00000143631	ENST00000368799	T	0.01335	5.0	3.16	-6.31	0.02001	.	.	.	.	.	T	0.00178	0.0005	N	0.12637	0.245	0.09310	N	1	B	0.21905	0.062	B	0.08055	0.003	T	0.46911	-0.9157	9	0.02654	T	1	.	4.7267	0.12945	0.2301:0.3697:0.0:0.4002	.	1427	P20930	FILA_HUMAN	T	1427	ENSP00000357789:A1427T	ENSP00000357789:A1427T	A	-	1	0	FLG	150549707	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.753000	0.01818	-2.604000	0.00449	-0.222000	0.12452	GCA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152283083	C	T	152283083	3	4	25	1	0	0	0	0	1	0	0	0	5922	768	27	1	7910	1	FLG	1	152283083	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	1752569	152283083	96967538	7	1571											
F5	2153	broad.mit.edu	37	chr1	169510563	169510563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctggagagaggtttgtCtggctgaggtctaaagaaag	11	11	15	4	0	3	3	0	1	3	2	3	5	3	4	0	4	0	3	0	4	3	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:169510563C>G	ENST00000367797.3	-	13	3966	c.3765G>C	c.(3763-3765)caG>caC	p.Q1255H	F5_ENST00000367796.3_Missense_Mutation_p.Q1260H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1255	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGAGGTTTGTCTGGCTGAGGT	0.522																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3763-3765)caG>caC		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						201	220	214					1																	169510563		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510563C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3765G>C	1.37:g.169510563C>G	ENSP00000356771:p.Gln1255His						p.Q1255H	NM_000130	NP_000121	P12259	FA5_HUMAN			12	3910	-	all_hematologic(923;0.208)		1255			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3765G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	2.119	-0.401795	0.04865	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36699	1.24;1.24	4.24	-5.41	0.02648	.	.	.	.	.	T	0.08088	0.0202	L	0.51914	1.62	0.21897	N	0.999484	B	0.02656	0.0	B	0.04013	0.001	T	0.25847	-1.0120	8	0.26408	T	0.33	.	2.1298	0.03748	0.1887:0.363:0.0923:0.3559	.	1255	P12259	FA5_HUMAN	H	1255;1260	ENSP00000356771:Q1255H;ENSP00000356770:Q1260H	ENSP00000356770:Q1260H	Q	-	3	2	F5	167777187	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.593000	0.00420	-1.595000	0.01613	-4.787000	0.00003	CAG		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		G	169510563	C	G	169510563	3	3	25	1	0	0	0	0	1	0	0	0	5348	912	32	5	2961	5	F5	1	169510563	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	17227480	169510563	79740058	8	1572											
OBSCN	84033	broad.mit.edu	37	chr1	228467603	228467603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtcctgcgacttccGgccagcccccaaggctgtgc	4	8	12	17	2	0	0	0	0	0	0	3	1	3	0	6	3	3	1	6	3	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:228467603G>A	ENST00000422127.1	+	28	7522	c.7478G>A	c.(7477-7479)cGg>cAg	p.R2493Q	OBSCN_ENST00000359599.6_Missense_Mutation_p.R1340Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2922Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2493Q|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2493	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGACTTCCGGCCAGCCCCC	0.622																																						uc009xez.1																			0		p.R2493L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7477-7479)cGg>cAg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							23	28	26					1																	228467603		2116	4228	6344	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467603G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7478G>A	1.37:g.228467603G>A	ENSP00000409493:p.Arg2493Gln					OBSCN_uc001hsn.3_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	p.R2493Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			27	7522	+		Prostate(94;0.0405)	2493			Ig-like 24.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7478G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.052100	0.36181	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.66638	-0.22;-0.22;-0.22	5.01	1.25	0.21368	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443096	0.23100	N	0.051936	T	0.51702	0.1690	N	0.16016	0.355	0.19775	N	0.99996	D;P;D	0.63880	0.966;0.813;0.993	P;B;P	0.50590	0.489;0.091;0.645	T	0.46925	-0.9156	10	0.25106	T	0.35	.	8.7628	0.34685	0.5285:0.0:0.4715:0.0	.	2493;2493;2493	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	Q	2493;2493;1340;192	ENSP00000284548:R2493Q;ENSP00000409493:R2493Q;ENSP00000352613:R1340Q	ENSP00000284548:R2493Q	R	+	2	0	OBSCN	226534226	0.945000	0.32115	0.981000	0.43875	0.857000	0.48899	0.378000	0.20569	0.406000	0.25560	0.550000	0.68814	CGG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228467603	G	A	228467603	3	1	25	1	0	0	0	0	1	0	0	0	10812	1116	39	2	7584	2	OBSCN	1	228467603	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	58957040	228467603	20783018	9	1573											
RYR2	6262	broad.mit.edu	37	chr1	237924281	237924281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctaaatgcatttgagcGacaaaacaaagctgaaggtc	16	8	9	8	1	0	3	0	3	0	0	1	4	0	3	1	1	4	2	1	1	6	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:237924281G>A	ENST00000366574.2	+	84	11746	c.11429G>A	c.(11428-11430)cGa>cAa	p.R3810Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R3794Q|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3816Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3810					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATTTGAGCGACAAAACAAA	0.393																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11428-11430)cGa>cAa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							106	99	101					1																	237924281		1865	4103	5968	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237924281G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11429G>A	1.37:g.237924281G>A	ENSP00000355533:p.Arg3810Gln					RYR2_uc010pya.2_Missense_Mutation_p.R225Q	p.R3810Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		83	11549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3810					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11429G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.739929	0.96873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.92397	-3.03;-3.03;-3.03	5.84	5.84	0.93424	.	0.000000	0.53938	U	0.000047	D	0.95611	0.8573	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67900	0.929;0.954	D	0.95465	0.8546	10	0.87932	D	0	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	784;3810	B4DGV4;Q92736	.;RYR2_HUMAN	Q	3810;3816;3794;784	ENSP00000355533:R3810Q;ENSP00000353174:R3816Q;ENSP00000443798:R3794Q	ENSP00000353174:R3816Q	R	+	2	0	RYR2	235990904	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.537000	0.98070	2.767000	0.95098	0.591000	0.81541	CGA		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237924281	G	A	237924281	3	1	25	1	0	0	0	0	1	0	0	0	13769	1058	37	2	11763	2	RYR2	1	237924281	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	9456678	237924281	11326340	10	1574											
SCN7A	6332	broad.mit.edu	37	chr2	167327191	167327191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaagcgttggaatgaagtCcagaggtgagtatcttataa	13	12	12	4	1	1	4	0	3	1	1	2	5	2	5	1	2	1	2	1	2	6	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr2:167327191C>A	ENST00000409855.1	-	6	724	c.598G>T	c.(598-600)Gac>Tac	p.D200Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	200					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GGAATGAAGTCCAGAGGTGAG	0.294																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(598-600)Gac>Tac		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							41	41	41					2																	167327191		1798	4049	5847	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167327191C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.598G>T	2.37:g.167327191C>A	ENSP00000386796:p.Asp200Tyr					SCN7A_uc010fpm.2_Non-coding_Transcript	p.D200Y	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			5	728	-			200						Missense_Mutation	SNP	ENST00000409855.1	37	c.598G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	9.902	1.207102	0.22205	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98567	-5.0;-5.0;-5.0	4.62	-3.48	0.04739	Ion transport (1);	1.235800	0.05607	N	0.577337	D	0.94245	0.8152	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	D	0.87657	0.2532	10	0.62326	D	0.03	.	7.986	0.30212	0.1521:0.606:0.0:0.2419	.	200	Q01118	SCN7A_HUMAN	Y	200	ENSP00000386796:D200Y;ENSP00000413699:D200Y;ENSP00000403846:D200Y	ENSP00000259060:D200Y	D	-	1	0	SCN7A	167035437	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	0.942000	0.29017	-0.476000	0.06842	-0.339000	0.08088	GAC		0.294	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167327191	C	A	167327191	3	1	25	1	0	0	0	0	1	0	0	0	13923	855	30	5	4530	5	SCN7A	2	167327191	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		167327191	75872182	11	1575											
RBMS3	27303	broad.mit.edu	37	chr3	29938905	29938905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacagtattgcaaccaaccGcatgattccacagacatcta	14	9	6	12	1	1	2	0	1	1	1	2	2	2	2	3	0	4	4	3	0	5	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:29938905G>A	ENST00000383767.2	+	9	1163	c.827G>A	c.(826-828)cGc>cAc	p.R276H	RBMS3_ENST00000396583.3_Missense_Mutation_p.R289H|RBMS3_ENST00000273139.9_Missense_Mutation_p.R276H|RBMS3_ENST00000456853.1_Missense_Mutation_p.R289H|RBMS3_ENST00000383766.2_Missense_Mutation_p.R275H|RBMS3_ENST00000434693.2_Missense_Mutation_p.R275H|RBMS3_ENST00000452462.1_Missense_Mutation_p.R276H			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	276					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCAACCAACCGCATGATTCCA	0.433																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(826-828)cGc>cAc		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							277	252	260					3																	29938905		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29938905G>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.827G>A	3.37:g.29938905G>A	ENSP00000373277:p.Arg276His					RBMS3_uc010hfq.3_Missense_Mutation_p.R289H|RBMS3_uc003cek.3_Missense_Mutation_p.R276H|RBMS3_uc010hfr.3_Missense_Mutation_p.R276H|RBMS3_uc003cem.3_Missense_Mutation_p.R275H	p.R276H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			8	1197	+		Ovarian(412;0.0956)	276					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.827G>A	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818647	0.90790	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.29917	1.6;1.64;1.6;1.57;1.7;1.55;1.63	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.973	D;D;D;P	0.79784	0.993;0.993;0.993;0.701	T	0.57900	-0.7731	9	.	.	.	.	18.754	0.91825	0.0:0.0:1.0:0.0	.	276;289;275;276	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	H	275;289;276;276;275;276;289	ENSP00000395592:R275H;ENSP00000379828:R289H;ENSP00000373277:R276H;ENSP00000273139:R276H;ENSP00000373276:R275H;ENSP00000397926:R276H;ENSP00000400519:R289H	.	R	+	2	0	RBMS3	29913909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	CGC		0.433	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		A	29938905	G	A	29938905	3	1	25	1	0	0	0	0	1	0	0	0	13150	1087	38	1	904	1	RBMS3	3	29938905	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		29938905	168083525	12	1576											
DNAH1	25981	broad.mit.edu	37	chr3	52422625	52422625	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgggccgagctggcaaGgtgcgcaccctcctcctgca	5	6	14	16	3	0	0	0	0	0	0	2	1	2	0	4	4	3	5	4	4	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:52422625G>A	ENST00000420323.2	+	58	9624	c.9363G>A	c.(9361-9363)aaG>aaA	p.K3121K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3121					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGCTGGCAAGGTGCGCACCC	0.657																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e58+1		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							18	22	21					3																	52422625		2191	4276	6467	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52422625G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9363+1G>A	3.37:g.52422625G>A						DNAH1_uc003ddv.3_5'UTR	p.K3121_splice	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	58	9624	+			3121					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9363_splice	CCDS46842.1																																																																																				0.657	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Silent	A	52422625	G	A	52422625	5	1	25	1	0	0	0	0	0	0	1	0	4597	1014	35	3	9589	3	DNAH1	3	52422625	Splice_Site	SNP	G	TCGA-06-0154-01A-03D-1491-08	22483720	52422625	145599805	13	1577											
FETUB	26998	broad.mit.edu	37	chr3	186362610	186362610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactgactcttccaatcaCcaagtgctggaggctgccac	9	8	8	16	0	2	1	1	1	1	0	3	2	3	2	4	2	2	2	4	2	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:186362610C>A	ENST00000265029.3	+	4	596	c.495C>A	c.(493-495)caC>caA	p.H165Q	FETUB_ENST00000382134.3_Missense_Mutation_p.H100Q|FETUB_ENST00000450521.1_Missense_Mutation_p.H165Q|FETUB_ENST00000539949.1_Missense_Mutation_p.H17Q|FETUB_ENST00000382136.3_Missense_Mutation_p.H128Q|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	165	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTCCAATCACCAAGTGCTGG	0.443																																						uc010hyq.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(493-495)caC>caA		Homo sapiens fetuin B (FETUB), mRNA.							124	116	119					3																	186362610		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362610C>A	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.495C>A	3.37:g.186362610C>A	ENSP00000265029:p.His165Gln					FETUB_uc011brz.2_Missense_Mutation_p.H17Q|FETUB_uc003fqn.3_Missense_Mutation_p.H165Q|FETUB_uc010hyr.3_Missense_Mutation_p.H128Q|FETUB_uc010hys.3_Missense_Mutation_p.H17Q|FETUB_uc003fqp.4_Missense_Mutation_p.H100Q	p.H165Q	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	756	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		165			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.495C>A	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305401	0.23736	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.16	-2.13	0.07144	Proteinase inhibitor I25, cystatin (2);	1.133660	0.06424	N	0.722820	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.033;0.028;0.007	B;B;B	0.21151	0.009;0.005;0.033	T	0.34875	-0.9811	10	0.35671	T	0.21	0.0968	10.4276	0.44387	0.0:0.4047:0.0:0.5953	.	128;100;165	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	Q	165;17;17;165;100;128	ENSP00000404288:H165Q;ENSP00000396581:H17Q;ENSP00000443704:H17Q;ENSP00000265029:H165Q;ENSP00000371569:H100Q;ENSP00000371571:H128Q	ENSP00000265029:H165Q	H	+	3	2	FETUB	187845304	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.574000	0.02133	-0.410000	0.07542	-0.251000	0.11542	CAC		0.443	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		A	186362610	C	A	186362610	3	1	25	1	0	0	0	0	1	0	0	0	5821	506	18	5	509	5	FETUB	3	186362610	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	133939985	186362610	11659820	14	1578											
GABRA4	2557	broad.mit.edu	37	chr4	46973176	46973176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcactgtcataatgcaCggaatataggtctgaatcat	15	11	8	7	1	4	2	3	1	1	1	4	3	4	3	0	2	1	1	0	2	6	3	rs541280213		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:46973176C>T	ENST00000264318.3	-	7	1780	c.798G>A	c.(796-798)ccG>ccA	p.P266P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	266					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCATAATGCACGGAATATAGG	0.368																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(796-798)ccG>ccA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						83	80	81					4																	46973176		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46973176C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.798G>A	4.37:g.46973176C>T						GABRA4_uc021xnz.1_Silent_p.P247P|GABRA4_uc021xoa.1_Intron	p.P266P	NM_000809	NP_000800	P48169	GBRA4_HUMAN			6	1781	-			266					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.798G>A	CCDS3473.1																																																																																				0.368	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46973176	C	T	46973176	2	4	25	1	0	0	0	0	0	0	0	1	6163	523	19	1		1	GABRA4	4	46973176	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08		46973176	144181100	15	1579											
UGT2B7	7364	broad.mit.edu	37	chr4	69962448	69962448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcccaacaactcatcCgctcttaaaattgaaattta	14	14	3	10	1	2	2	1	2	1	0	4	2	4	2	2	0	2	1	2	0	6	5	rs151180306		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:69962448C>T	ENST00000508661.1	+	1	237	c.210C>T	c.(208-210)tcC>tcT	p.S70S	UGT2B7_ENST00000305231.7_Silent_p.S70S|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	70					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.S70S(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTCATCCGCTCTTAAAA	0.373																																						uc003heg.4																			1	Substitution - coding silent(1)	p.S70S(2)	lung(1)	autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(208-210)tcC>tcT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.		C		4,4402	8.1+/-20.4	0,4,2199	73	79	77		210	-4.8	0	4	dbSNP_134	77	0,8596		0,0,4298	no	coding-synonymous	UGT2B7	NM_001074.2		0,4,6497	TT,TC,CC		0.0,0.0908,0.0308		70/530	69962448	4,12998	2203	4298	6501	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962448C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.210C>T	4.37:g.69962448C>T						UGT2B7_uc010ihq.3_Silent_p.S70S	p.S70S	NM_001074	NP_001065	P16662	UD2B7_HUMAN			0	256	+			70					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.210C>T																																																																																					0.373	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		T	69962448	C	T	69962448	2	4	25	1	0	0	0	0	0	0	0	1	16959	639	23	2		2	UGT2B7	4	69962448	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	22989272	69962448	121191828	16	1580											
GLRA3	8001	broad.mit.edu	37	chr4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccatgttgatccagaatGaaacccaggatagaataaca	17	8	7	9	0	0	4	0	2	0	2	2	5	2	5	3	1	2	1	3	1	5	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GATCCAGAATGAAACCCAGGA	0.478																																						uc003ity.1																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(820-822)tCa>tTa		Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	Glycine(DB00145)						113	100	105					4																	175598335		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598335G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.821C>T	4.37:g.175598335G>A	ENSP00000274093:p.Ser274Leu					GLRA3_uc003itz.1_Missense_Mutation_p.S274L	p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	6	1324	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	274					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.821C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325080	0.95708	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.87887	-2.31;-2.31	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.96243	0.9177	10	0.87932	D	0	.	19.5178	0.95171	0.0:0.0:1.0:0.0	.	274;274	O75311-2;O75311	.;GLRA3_HUMAN	L	274	ENSP00000274093:S274L;ENSP00000345284:S274L	ENSP00000274093:S274L	S	-	2	0	GLRA3	175834910	1.000000	0.71417	0.961000	0.40146	0.842000	0.47809	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	TCA		0.478	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			A	175598335	G	A	175598335	3	1	25	1	0	0	0	0	1	0	0	0	6456	1294	45	3	589	3	GLRA3	4	175598335	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	105635887	175598335	15555941	17	1581											
PRDM9	56979	broad.mit.edu	37	chr5	23526914	23526914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcattcaccagaggAtacacacaggggagaagccc	13	5	9	14	0	2	2	2	0	0	2	3	4	3	3	4	3	2	0	4	3	2	2	rs373367667		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:23526914A>T	ENST00000296682.3	+	11	1899	c.1717A>T	c.(1717-1719)Ata>Tta	p.I573L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	573					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCACCAGAGGATACACACAGG	0.562										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1717-1719)Ata>Tta		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							73	81	78					5																	23526914		2190	4297	6487	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526914A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1717A>T	5.37:g.23526914A>T	ENSP00000296682:p.Ile573Leu	HNSCC(3;0.000094)					p.I573L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1899	+			573					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1717A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816354	0.32145	.	.	ENSG00000164256	ENST00000296682	T	0.07327	3.2	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.249761	0.20968	N	0.082442	T	0.06917	0.0176	L	0.33137	0.985	0.09310	N	0.999997	B	0.09022	0.002	B	0.17979	0.02	T	0.26395	-1.0104	10	0.54805	T	0.06	-2.9928	8.4538	0.32886	1.0:0.0:0.0:0.0	.	573	Q9NQV7	PRDM9_HUMAN	L	573	ENSP00000296682:I573L	ENSP00000296682:I573L	I	+	1	0	PRDM9	23562671	0.000000	0.05858	1.000000	0.80357	0.635000	0.38103	0.664000	0.25068	1.287000	0.44583	0.329000	0.21502	ATA		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23526914	A	T	23526914	3	4	25	1	0	0	0	0	1	0	0	0	12463	333	12	5	1755	5	PRDM9	5	23526914	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		23526914	157388346	18	1582											
AP3S1	1176	broad.mit.edu	37	chr5	115249179	115249179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgccaaacctgccctctTttaaataaaaatgtaaaaag	18	10	5	8	0	1	0	0	0	1	0	1	0	1	0	3	0	3	1	3	0	10	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:115249179T>C	ENST00000316788.7	+	6	1131	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	192					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CCTGCCCTCTTTTAAATAAAA	0.393																																						uc003krl.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(574-576)Ttt>Ctt		Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.							63	67	65					5																	115249179		2202	4300	6502	SO:0001583	missense	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115249179T>C	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.574T>C	5.37:g.115249179T>C	ENSP00000325369:p.Phe192Leu					AP3S1_uc003krk.3_Missense_Mutation_p.F170L	p.F192L	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	5	690	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	192					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	c.574T>C	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129644	0.56721	.	.	ENSG00000177879	ENST00000316788	T	0.40476	1.03	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.57536	1.79	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.24048	-1.0171	10	0.42905	T	0.14	25.0429	16.0086	0.80380	0.0:0.0:0.0:1.0	.	192;192	B2R4I8;Q92572	.;AP3S1_HUMAN	L	192	ENSP00000325369:F192L	ENSP00000325369:F192L	F	+	1	0	AP3S1	115277078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.905000	0.87416	2.320000	0.78422	0.528000	0.53228	TTT		0.393	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			C	115249179	T	C	115249179	3	2	25	1	0	0	0	0	1	0	0	0	749	1841	64	4	596	4	AP3S1	5	115249179	Missense_Mutation	SNP	T	TCGA-06-0154-01A-03D-1491-08	91722265	115249179	65666081	19	1583											
PCDHA13	56136	broad.mit.edu	37	chr5	140263908	140263908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgtcggcaggCgctgtgggtccagaagcggc	5	6	19	11	6	0	1	0	0	0	1	4	2	1	1	1	5	1	2	1	5	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140263908C>T	ENST00000289272.2	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.G685G|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2053-2055)ggC>ggT		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							62	53	56					5																	140263908		2203	4299	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263908C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2055C>T	5.37:g.140263908C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2055	+			698			Cadherin 6.		O75277	Silent	SNP	ENST00000289272.2	37	c.2055C>T	CCDS4240.1																																																																																				0.632	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263908	C	T	140263908	2	4	25	1	0	0	0	0	0	0	0	1	11523	755	27	1		1	PCDHA13	5	140263908	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	25014729	140263908	40651352	20	1584											
PCDHB12	56124	broad.mit.edu	37	chr5	140590224	140590224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccctgggcggccgagcCgggctacctggtgaccaagg	5	5	18	13	3	0	1	0	1	0	0	0	2	0	1	5	6	3	1	5	6	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140590224C>T	ENST00000239450.2	+	1	1934	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P245L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.692																																						uc003liz.3																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1744-1746)cCg>cTg		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							27	35	32					5																	140590224		2176	4256	6432	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590224C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1745C>T	5.37:g.140590224C>T	ENSP00000239450:p.Pro582Leu					PCDHB12_uc011dak.2_Missense_Mutation_p.P245L	p.P582L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1934	+			582			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1745C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958965	0.53400	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.21031	2.03;2.03	3.25	2.35	0.29111	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.30792	0.0776	M	0.66506	2.035	0.20764	N	0.999858	P	0.49253	0.921	P	0.49421	0.61	T	0.09751	-1.0660	9	0.66056	D	0.02	.	9.7124	0.40254	0.3758:0.6242:0.0:0.0	.	582	Q9Y5F1	PCDBC_HUMAN	L	245;582;202	ENSP00000440199:P245L;ENSP00000239450:P582L	ENSP00000239450:P582L	P	+	2	0	PCDHB12	140570408	0.000000	0.05858	0.144000	0.22314	0.990000	0.78478	0.028000	0.13644	0.448000	0.26722	0.479000	0.44913	CCG		0.692	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140590224	C	T	140590224	3	4	25	1	0	0	0	0	1	0	0	0	11537	652	23	2	1747	2	PCDHB12	5	140590224	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	326316	140590224	40325036	21	1585											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745008	140745008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatcgcgctgtttagcGtacatgatggtgattctgga	8	14	12	7	3	1	2	0	2	1	0	2	3	1	3	0	2	2	4	0	2	3	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140745008G>A	ENST00000518069.1	+	1	1111	c.1111G>A	c.(1111-1113)Gta>Ata	p.V371I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	371	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTTTAGCGTACATGATGG	0.443																																						uc003lju.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1111-1113)Gta>Ata		Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.							101	101	101					5																	140745008		2033	4190	6223	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745008G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1111G>A	5.37:g.140745008G>A	ENSP00000429834:p.Val371Ile					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V371I	p.V371I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1111	+			374			Cadherin 4.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1111G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	8.289	0.817344	0.16607	.	.	ENSG00000253485	ENST00000518069	T	0.53206	0.63	5.52	3.75	0.43078	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52108	0.1714	M	0.68317	2.08	0.20196	N	0.999927	B;P	0.35328	0.439;0.495	B;B	0.41466	0.178;0.358	T	0.45190	-0.9278	9	0.46703	T	0.11	.	12.0825	0.53680	0.1413:0.0:0.8587:0.0	.	371;371	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	371	ENSP00000429834:V371I	ENSP00000429834:V371I	V	+	1	0	PCDHGA5	140725192	0.967000	0.33354	0.308000	0.25141	0.052000	0.14988	2.067000	0.41461	0.816000	0.34421	0.563000	0.77884	GTA		0.443	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		A	140745008	G	A	140745008	3	1	25	1	0	0	0	0	1	0	0	0	11557	1145	40	1	1113	1	PCDHGA5	5	140745008	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	154784	140745008	40170252	22	1586											
DOCK2	1794	broad.mit.edu	37	chr5	169503081	169503081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaaggagtacggtgtccGagagatggtatgggtggttc	9	9	19	4	2	0	2	0	0	0	2	2	6	1	3	1	6	1	3	1	6	3	3	rs567162342		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:169503081G>A	ENST00000256935.8	+	47	4939	c.4859G>A	c.(4858-4860)cGa>cAa	p.R1620Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1112Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.R681Q|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1620	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGGTGTCCGAGAGATGGTA	0.532													G|||	1	0.000199681	0	0	5008	,	,		16810	0.001		0	False		,,,				2504	0					uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4858-4860)cGa>cAa		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							125	118	120					5																	169503081		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169503081G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4859G>A	5.37:g.169503081G>A	ENSP00000256935:p.Arg1620Gln					DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.R1112Q|DOCK2_uc003mah.3_Missense_Mutation_p.R176Q	p.R1620Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		46	4939	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1620			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4859G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612940	0.46631	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09255	3.68;3.31;3.0	5.18	5.18	0.71444	Cytochrome c domain (1);	0.114324	0.56097	D	0.000032	T	0.08980	0.0222	L	0.44542	1.39	0.36837	D	0.887174	D;P;P	0.58620	0.983;0.669;0.755	B;B;B	0.34489	0.184;0.065;0.12	T	0.38585	-0.9654	10	0.11485	T	0.65	.	19.1283	0.93394	0.0:0.0:1.0:0.0	.	1112;176;1620	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1620;1112;681	ENSP00000256935:R1620Q;ENSP00000429283:R1112Q;ENSP00000438827:R681Q	ENSP00000256935:R1620Q	R	+	2	0	DOCK2	169435659	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	5.417000	0.66423	2.598000	0.87819	0.650000	0.86243	CGA		0.532	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169503081	G	A	169503081	3	1	25	1	0	0	0	0	1	0	0	0	4687	1058	37	2	5045	2	DOCK2	5	169503081	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	28758073	169503081	11412179	23	1587											
AGPAT1	10554	broad.mit.edu	37	chr6	32138354	32138354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaatgggcacacagcGgcctggcagtacctccatca	9	7	11	14	1	1	0	1	0	0	0	2	0	2	0	3	4	2	4	3	4	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:32138354G>A	ENST00000395499.1	-	4	937	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	AGPAT1_ENST00000375107.3_Missense_Mutation_p.R120C|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R120C|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R120C|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R120C|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R120C|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R8C			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	120					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGCACACAGCGGCCTGGCAGT	0.652																																						uc003oae.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(358-360)Cgc>Tgc		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.							52	56	54					6																	32138354		1509	2708	4217	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138354G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.358C>T	6.37:g.32138354G>A	ENSP00000378877:p.Arg120Cys					EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.R84C|AGPAT1_uc003oag.3_Intron|AGPAT1_uc003oah.3_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.2_Missense_Mutation_p.R8C	p.R120C	NM_006411	NP_116130	Q99943	PLCA_HUMAN			3	693	-			120					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.358C>T	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202687	0.94997	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465;ENST00000538952	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.89	5.89	0.94794	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.046774	0.85682	D	0.000000	D	0.97356	0.9135	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97642	1.0149	10	0.72032	D	0.01	-15.7039	17.7556	0.88447	0.0:0.0:1.0:0.0	.	84;120	B4DRH1;Q99943	.;PLCA_HUMAN	C	120;120;120;120;120;120;8;24	ENSP00000378874:R120C;ENSP00000364248:R120C;ENSP00000378877:R120C;ENSP00000364245:R120C;ENSP00000378875:R120C;ENSP00000337463:R120C;ENSP00000410473:R8C	ENSP00000337463:R120C	R	-	1	0	AGPAT1	32246332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.159000	0.50731	2.793000	0.96121	0.655000	0.94253	CGC		0.652	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		A	32138354	G	A	32138354	3	1	25	1	0	0	0	0	1	0	0	0	386	1116	39	2	509	2	AGPAT1	6	32138354	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		32138354	138976713	24	1588											
SPDEF	25803	broad.mit.edu	37	chr6	34508955	34508955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctggggctccagtccatgGgatctgggcaagaggcatcc	7	8	15	11	0	1	1	0	0	1	1	4	2	4	2	3	5	1	4	3	5	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:34508955G>C	ENST00000374037.3	-	3	854	c.440C>G	c.(439-441)cCc>cGc	p.P147R	SPDEF_ENST00000544425.1_Missense_Mutation_p.P147R	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	147	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P147R(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCAGTCCATGGGATCTGGGCA	0.647																																						uc003ojq.2																			1	Substitution - Missense(1)	p.P147R(2)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(439-441)cCc>cGc		Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.							34	33	33					6																	34508955		2203	4299	6502	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34508955G>C	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.440C>G	6.37:g.34508955G>C	ENSP00000363149:p.Pro147Arg					SPDEF_uc011dsq.2_Missense_Mutation_p.P147R	p.P147R	NM_012391	NP_036523	O95238	SPDEF_HUMAN			2	874	-			147			PNT.		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.440C>G	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378238	0.61735	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.68479	-0.33;-0.33	5.65	5.65	0.86999	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.88123	0.2833	10	0.87932	D	0	.	19.323	0.94250	0.0:0.0:1.0:0.0	.	147;147	F5H778;O95238	.;SPDEF_HUMAN	R	147	ENSP00000363149:P147R;ENSP00000442715:P147R	ENSP00000363149:P147R	P	-	2	0	SPDEF	34616933	1.000000	0.71417	0.969000	0.41365	0.120000	0.20174	9.800000	0.99124	2.659000	0.90383	0.561000	0.74099	CCC		0.647	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		C	34508955	G	C	34508955	3	2	25	1	0	0	0	0	1	0	0	0	15025	1232	43	5	583	5	SPDEF	6	34508955	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	2370601	34508955	136606112	25	1589											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604709	62604709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacacctcgtccaggtggtGggggaggaggaatggcaccc	9	5	17	10	1	0	0	0	0	0	0	2	4	1	3	3	7	1	1	3	7	2	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:62604709G>A	ENST00000281156.4	-	6	919	c.641C>T	c.(640-642)cCa>cTa	p.P214L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	214	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAGGTGGTGGGGGAGGAGG	0.557																																						uc003peg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(640-642)cCa>cTa		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							33	36	35					6																	62604709		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604709G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.641C>T	6.37:g.62604709G>A	ENSP00000281156:p.Pro214Leu						p.P214L	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	888	-			214			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.641C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111207	0.37242	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.46063	0.88	4.99	3.21	0.36854	.	0.356029	0.30043	N	0.010554	T	0.10723	0.0262	N	0.14661	0.345	0.34423	D	0.697633	B	0.27450	0.179	B	0.21151	0.033	T	0.05354	-1.0890	10	0.51188	T	0.08	-2.7479	8.765	0.34698	0.2299:0.0:0.7701:0.0	.	214	Q5VWX1	KHDR2_HUMAN	L	214	ENSP00000281156:P214L	ENSP00000281156:P214L	P	-	2	0	KHDRBS2	62662668	0.995000	0.38212	0.989000	0.46669	0.998000	0.95712	1.573000	0.36472	0.800000	0.34041	0.655000	0.94253	CCA		0.557	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		A	62604709	G	A	62604709	3	1	25	1	0	0	0	0	1	0	0	0	8147	1348	47	3	424	3	KHDRBS2	6	62604709	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	28095754	62604709	108510358	26	1590											
ANKRD6	22881	broad.mit.edu	37	chr6	90337365	90337365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacggagtgcctgaacCgcctgcaacagcactcagac	12	4	12	13	2	1	3	1	1	0	2	1	5	1	5	3	2	5	2	3	2	2	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:90337365C>T	ENST00000522441.1	+	14	2076	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	ANKRD6_ENST00000339746.4_Missense_Mutation_p.R479C|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R444C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R420C|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R479C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	479					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R479C(2)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GTGCCTGAACCGCCTGCAACA	0.512																																						uc003pni.4																			2	Substitution - Missense(2)	p.R479C(4)	large_intestine(2)	NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1435-1437)Cgc>Tgc		Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.							78	87	84					6																	90337365		2047	4212	6259	SO:0001583	missense	22881						protein binding	g.chr6:90337365C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1435C>T	6.37:g.90337365C>T	ENSP00000430985:p.Arg479Cys					ANKRD6_uc003pne.4_Missense_Mutation_p.R479C|ANKRD6_uc003pnf.4_Missense_Mutation_p.R444C|ANKRD6_uc011dzy.2_Missense_Mutation_p.R479C|ANKRD6_uc010kcd.3_Missense_Mutation_p.R420C|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.R75C	p.R479C	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	13	1776	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	479					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1435C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.753786|3.753786	0.69648|0.69648	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793;ENST00000521004	.|T;T;T;T;T	.|0.80393	.|0.33;0.14;0.12;0.14;-1.37	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.56097	.|D	.|0.000039	D|D	0.87382|0.87382	0.6163|0.6163	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.988;0.998;0.999;0.98	D|D	0.88178|0.88178	0.2869|0.2869	5|10	.|0.87932	.|D	.|0	-18.8383|-18.8383	19.3118|19.3118	0.94189|0.94189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420;479;444;479	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	L|C	52|444;479;479;479;220;420;34	.|ENSP00000358416:R444C;ENSP00000345767:R479C;ENSP00000396771:R479C;ENSP00000430985:R479C;ENSP00000429782:R420C	.|ENSP00000345767:R479C	P|R	+|+	2|1	0|0	ANKRD6|ANKRD6	90394086|90394086	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.423000|0.423000	0.31445|0.31445	5.104000|5.104000	0.64584|0.64584	2.558000|2.558000	0.86282|0.86282	0.563000|0.563000	0.77884|0.77884	CCG|CGC		0.512	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			T	90337365	C	T	90337365	3	4	25	1	0	0	0	0	1	0	0	0	685	652	23	2	1485	2	ANKRD6	6	90337365	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	27732656	90337365	80777702	27	1591											
KIAA1244	57221	broad.mit.edu	37	chr6	138531166	138531166	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacgaggacctgcaggtGgaagtgatgaaggttggttt	10	10	15	6	1	1	2	1	2	0	0	1	5	1	4	1	5	2	3	1	5	3	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138531166G>T	ENST00000251691.4	+	4	505	c.339G>T	c.(337-339)gtG>gtT	p.V113V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCTGCAGGTGGAAGTGATGA	0.502																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(337-339)gtG>gtT		Homo sapiens KIAA1244 (KIAA1244), mRNA.							150	113	125					6																	138531166		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138531166G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.339G>T	6.37:g.138531166G>T							p.V113V	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	3	510	+	Breast(32;0.135)		113						Silent	SNP	ENST00000251691.4	37	c.339G>T	CCDS5189.2																																																																																				0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138531166	G	T	138531166	2	4	25	1	0	0	0	0	0	0	0	1	8217	1335	47	5		5	KIAA1244	6	138531166	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	48193801	138531166	32583901	28	1592											
KIAA1244	57221	broad.mit.edu	37	chr6	138657552	138657552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgacctgtcacgtgaccGacatcagagttcgccaggct	9	8	11	13	3	2	3	2	2	0	1	3	4	2	3	3	1	1	3	3	1	0	1	rs373010266		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138657552G>A	ENST00000251691.4	+	34	6629	c.6463G>A	c.(6463-6465)Gac>Aac	p.D2155N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCACGTGACCGACATCAGAGT	0.562																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6463-6465)Gac>Aac		Homo sapiens KIAA1244 (KIAA1244), mRNA.		G	ASN/ASP	0,4406		0,0,2203	132	114	120		6463	6	1	6		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1244	NM_020340.4	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2155/2178	138657552	1,13005	2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138657552G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6463G>A	6.37:g.138657552G>A	ENSP00000251691:p.Asp2155Asn						p.D2155N	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6634	+	Breast(32;0.135)		2155						Missense_Mutation	SNP	ENST00000251691.4	37	c.6463G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	33	5.291293	0.95546	0.0	1.16E-4	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.18810	2.19	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.53760	0.734	T	0.01259	-1.1403	10	0.39692	T	0.17	-43.6961	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2155	Q5TH69	BIG3_HUMAN	N	2155;196	ENSP00000251691:D2155N	ENSP00000251691:D2155N	D	+	1	0	KIAA1244	138699245	1.000000	0.71417	0.972000	0.41901	0.892000	0.51952	9.624000	0.98398	2.865000	0.98341	0.655000	0.94253	GAC		0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138657552	G	A	138657552	3	1	25	1	0	0	0	0	1	0	0	0	8217	1058	37	2	6597	2	KIAA1244	6	138657552	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	126386	138657552	32457515	29	1593											
PLG	5340	broad.mit.edu	37	chr6	161139731	161139731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttctttttcagaaatttGgatgaaaactactgccgcaa	13	13	6	9	1	2	2	1	1	1	1	2	3	2	3	1	1	3	1	1	1	5	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:161139731G>A	ENST00000308192.9	+	9	1020	c.957G>A	c.(955-957)ttG>ttA	p.L319L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	319	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAGAAATTTGGATGAAAACT	0.453																																						uc003qtm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(955-957)ttG>ttA		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						58	63	61					6																	161139731		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139731G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.957G>A	6.37:g.161139731G>A							p.L319L	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	1069	+			319			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.957G>A	CCDS5279.1																																																																																				0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161139731	G	A	161139731	2	1	25	1	0	0	0	0	0	0	0	1	12086	1339	47	3		3	PLG	6	161139731	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	22482179	161139731	9975336	30	1594											
GHRHR	2692	broad.mit.edu	37	chr7	31016046	31016046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtctttcctgcaggcGtctctccaagtcgacacttt	6	15	8	12	2	2	0	0	0	2	0	6	2	4	0	2	1	1	1	2	1	1	3	rs535727568		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:31016046G>A	ENST00000326139.2	+	11	1023	c.977G>A	c.(976-978)cGt>cAt	p.R326H	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.R262H|GHRHR_ENST00000409316.1_Silent_p.A92A	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	326					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCCTGCAGGCGTCTCTCCAAG	0.512													G|||	1	0.000199681	0	0.0014	5008	,	,		18161	0		0	False		,,,				2504	0					uc003tbx.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(976-978)cGt>cAt		Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	Sermorelin(DB00010)						80	66	71					7																	31016046		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016046G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.977G>A	7.37:g.31016046G>A	ENSP00000320180:p.Arg326His					GHRHR_uc003tby.3_Missense_Mutation_p.R262H|GHRHR_uc003tbz.3_Silent_p.A92A	p.R326H	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			10	1025	+			326					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.977G>A	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	g	35	5.573952	0.96553	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.43688	0.94;0.94	4.93	4.03	0.46877	GPCR, family 2-like (1);	.	.	.	.	T	0.66973	0.2844	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.965;0.991	T	0.72616	-0.4239	9	0.87932	D	0	.	9.6348	0.39800	0.1006:0.0:0.8994:0.0	.	262;326	Q9HB45;Q02643	.;GHRHR_HUMAN	H	326;262	ENSP00000320180:R326H;ENSP00000387113:R262H	ENSP00000320180:R326H	R	+	2	0	GHRHR	30982571	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	7.044000	0.76578	2.283000	0.76528	0.546000	0.68486	CGT		0.512	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			A	31016046	G	A	31016046	3	1	25	1	0	0	0	0	1	0	0	0	6373	1145	40	1	1059	1	GHRHR	7	31016046	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		31016046	128122617	31	1595											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.R222C(7)|p.V30_R297>G(5)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(664-666)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91	104	100					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55220274	C	T	55220274	3	4	25	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	24204228	55220274	103918389	32	1596											
WBSCR28	135886	broad.mit.edu	37	chr7	73280082	73280082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcacacgacccagctggCcgaggcccaggaggttgaac	10	4	14	13	2	0	2	0	2	0	0	0	5	0	3	3	4	3	3	3	4	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:73280082C>T	ENST00000320531.2	+	3	713	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	226						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ACCCAGCTGGCCGAGGCCCAG	0.627																																						uc003tzk.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(676-678)gCc>gTc		Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.							120	132	128					7																	73280082		2109	4228	6337	SO:0001583	missense	135886					integral to membrane		g.chr7:73280082C>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.677C>T	7.37:g.73280082C>T	ENSP00000316775:p.Ala226Val					WBSCR28_uc003tzl.2_Missense_Mutation_p.A125V	p.A226V	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			2	713	+		Lung NSC(55;0.159)	226					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.677C>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033130	0.54896	.	.	ENSG00000175877	ENST00000320531	T	0.27720	1.65	4.15	3.26	0.37387	.	0.000000	0.39210	N	0.001421	T	0.35098	0.0920	L	0.36672	1.1	0.26335	N	0.977454	D	0.60160	0.987	P	0.57283	0.817	T	0.08006	-1.0743	10	0.87932	D	0	-10.9867	7.8069	0.29209	0.0:0.8865:0.0:0.1135	.	226	Q6UE05	WBS28_HUMAN	V	226	ENSP00000316775:A226V	ENSP00000316775:A226V	A	+	2	0	WBSCR28	72918018	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	2.145000	0.42207	1.111000	0.41721	0.644000	0.83932	GCC		0.627	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		T	73280082	C	T	73280082	3	4	25	1	0	0	0	0	1	0	0	0	17264	739	26	3	687	3	WBSCR28	7	73280082	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	18059808	73280082	85858581	33	1597											
ASNS	440	broad.mit.edu	37	chr7	97484694	97484694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatatgtaaccctgcgtaaGttcatctgatccttctccag	10	14	6	11	1	3	1	1	1	2	0	5	1	4	1	3	0	2	3	3	0	4	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:97484694G>A	ENST00000394309.3	-	9	1579	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	ASNS_ENST00000175506.4_Missense_Mutation_p.L370F|ASNS_ENST00000437628.1_Missense_Mutation_p.L287F|ASNS_ENST00000444334.1_Missense_Mutation_p.L349F|ASNS_ENST00000422745.1_Missense_Mutation_p.L349F|ASNS_ENST00000394308.3_Missense_Mutation_p.L370F|ASNS_ENST00000455086.1_Missense_Mutation_p.L287F	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	370	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGCGTAAGTTCATCTGAT	0.338																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.4																			0				ovary(1)	1						c.(1108-1110)Ctt>Ttt		Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						107	101	103					7																	97484694		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97484694G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1108C>T	7.37:g.97484694G>A	ENSP00000377846:p.Leu370Phe					ASNS_uc011kin.2_Missense_Mutation_p.L287F|ASNS_uc011kio.2_Missense_Mutation_p.L349F|ASNS_uc003uou.4_Missense_Mutation_p.L370F|ASNS_uc003uov.4_Missense_Mutation_p.L370F|ASNS_uc003uox.4_Missense_Mutation_p.L287F	p.L370F	NM_133436	NP_001171548	P08243	ASNS_HUMAN			8	1614	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		370			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1108C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758896	0.89843	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.17	5.17	0.71159	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	M	0.86097	2.795	0.80722	D	1	P	0.49185	0.92	P	0.56563	0.801	T	0.77222	-0.2667	10	0.87932	D	0	-23.8061	16.5286	0.84352	0.0:0.0:1.0:0.0	.	370	P08243	ASNS_HUMAN	F	370;370;287;370;349;287;349	ENSP00000175506:L370F;ENSP00000377846:L370F;ENSP00000414379:L287F;ENSP00000377845:L370F;ENSP00000414901:L349F;ENSP00000408472:L287F;ENSP00000406994:L349F	ENSP00000175506:L370F	L	-	1	0	ASNS	97322630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.843000	0.69424	2.574000	0.86865	0.561000	0.74099	CTT		0.338	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		A	97484694	G	A	97484694	3	1	25	1	0	0	0	0	1	0	0	0	1048	1029	36	3	597	3	ASNS	7	97484694	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	24204612	97484694	61653969	34	1598											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaagcatcagcagttcGaactaatagtccccttcaag	14	9	8	10	1	2	2	2	1	0	1	4	3	3	2	2	0	3	3	2	0	5	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:146997332G>A	ENST00000361727.3	+	9	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	483	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1447-1449)cGa>cAa		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							145	132	136					7																	146997332		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997332G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1448G>A	7.37:g.146997332G>A	ENSP00000354778:p.Arg483Gln	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.R483Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1964	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	483			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1448G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709276	0.48517	.	.	ENSG00000174469	ENST00000361727	T	0.77750	-1.12	5.95	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000015	T	0.70996	0.3288	L	0.55481	1.735	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.67173	-0.5737	10	0.13470	T	0.59	.	13.8215	0.63322	0.074:0.0:0.926:0.0	.	483	Q9UHC6	CNTP2_HUMAN	Q	483	ENSP00000354778:R483Q	ENSP00000354778:R483Q	R	+	2	0	CNTNAP2	146628265	1.000000	0.71417	0.278000	0.24718	0.771000	0.43674	7.350000	0.79385	1.513000	0.48852	0.563000	0.77884	CGA		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146997332	G	A	146997332	3	1	25	1	0	0	0	0	1	0	0	0	3647	1058	37	2	1482	2	CNTNAP2	7	146997332	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	49512638	146997332	12141331	35	1599											
PTPRD	5789	broad.mit.edu	37	chr9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacttgagcacttaccccGcaaaactgtgagtctggtgg	9	11	10	11	1	2	2	1	2	1	0	2	2	2	2	2	2	3	2	2	2	3	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:8633320G>A	ENST00000381196.4	-	11	892	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)																												uc003zkk.3																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(349-351)Cgg>Tgg		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							195	157	170					9																	8633320		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633320G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.349C>T	9.37:g.8633320G>A	ENSP00000370593:p.Arg117Trp	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Missense_Mutation_p.R117W|PTPRD_uc003zkq.3_Missense_Mutation_p.R117W|PTPRD_uc003zkr.3_Missense_Mutation_p.R117W|PTPRD_uc003zks.3_Missense_Mutation_p.R117W|PTPRD_uc022bdj.1_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	13	1092	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	117					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.349C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454414	0.84209	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	0.52;0.52;0.56;0.61;0.7;0.82;0.58;0.48;0.52;0.7;0.81;-0.56	6.05	6.05	0.98169	.	0.126553	0.50627	D	0.000105	D	0.82995	0.5158	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.999;1.0;0.999;1.0;0.999;0.997	D;P;P;P;P;D;D;P;P;P	0.71414	0.973;0.878;0.827;0.827;0.827;0.911;0.943;0.897;0.849;0.685	T	0.82516	-0.0418	9	.	.	.	.	15.3312	0.74212	0.0:0.0:0.8603:0.1397	.	117;117;117;117;117;117;117;117;117;117	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	W	117	ENSP00000370593:R117W;ENSP00000348812:R117W;ENSP00000353187:R117W;ENSP00000351293:R117W;ENSP00000347373:R117W;ENSP00000380741:R117W;ENSP00000380735:R117W;ENSP00000440515:R117W;ENSP00000438164:R117W;ENSP00000417093:R117W;ENSP00000380731:R117W;ENSP00000417661:R117W	.	R	-	1	2	PTPRD	8623320	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.534000	0.60622	2.871000	0.98454	0.637000	0.83480	CGG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			A	8633320	G	A	8633320	3	1	25	1	0	0	0	0	1	0	0	0	12799	1086	38	1	5589	1	PTPRD	9	8633320	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		8633320	132580111	36	1600											
KIAA1797	54914	broad.mit.edu	37	chr9	20976500	20976500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagctaccaatatcctcCtgtgaactgggctgcacttc	11	10	8	12	0	0	2	0	1	0	1	3	2	2	2	3	1	4	3	3	1	5	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:20976500C>A	ENST00000380249.1	+	38	4578	c.4214C>A	c.(4213-4215)cCt>cAt	p.P1405H	FOCAD_ENST00000605086.1_Missense_Mutation_p.P841H|FOCAD_ENST00000338382.6_Missense_Mutation_p.P1405H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1405						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CAATATCCTCCTGTGAACTGG	0.393																																						uc003zog.1																			0											c.(4213-4215)cCt>cAt		Homo sapiens KIAA1797 (KIAA1797), mRNA.							231	215	221					9																	20976500		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20976500C>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4214C>A	9.37:g.20976500C>A	ENSP00000369599:p.Pro1405His					FOCAD_uc003zoh.1_Missense_Mutation_p.P841H	p.P1405H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN			37	4577	+			1405					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4214C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426182	0.83667	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.28255	1.62;1.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62110	-0.6923	10	0.87932	D	0	-28.396	19.4167	0.94704	0.0:1.0:0.0:0.0	.	1405	Q5VW36	K1797_HUMAN	H	1405	ENSP00000369599:P1405H;ENSP00000344307:P1405H	ENSP00000344307:P1405H	P	+	2	0	KIAA1797	20966500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.396000	0.73234	2.588000	0.87417	0.563000	0.77884	CCT		0.393	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20976500	C	A	20976500	3	1	25	1	0	0	0	0	1	0	0	0	8258	681	24	5	4352	5	KIAA1797	9	20976500	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	12343180	20976500	120236931	37	1601											
NXNL2	158046	broad.mit.edu	37	chr9	91150637	91150637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcgctgcccttccaCgacccctaccggcagtgagt	5	8	12	16	3	0	1	0	1	0	0	1	2	1	1	5	3	2	3	5	3	1	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:91150637C>T	ENST00000375854.3	+	1	622	c.288C>T	c.(286-288)caC>caT	p.H96H	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375855.3_Silent_p.H96H	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	96	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)					lung(3)	3						TGCCCTTCCACGACCCCTACC	0.711																																						uc011ltj.2																			0				lung(3)	3						c.(286-288)caC>caT		Homo sapiens nucleoredoxin-like 2 (NXNL2), transcript variant 1, mRNA.							16	19	18					9																	91150637		1977	4043	6020	SO:0001819	synonymous_variant	158046							g.chr9:91150637C>T	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"chromosome 9 open reading frame 121"	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.288C>T	9.37:g.91150637C>T						NXNL2_uc004aqa.3_Silent_p.H96H	p.H96H	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			0	622	+			96			Thioredoxin.		B1AMD0|Q8TBG6	Silent	SNP	ENST00000375854.3	37	c.288C>T	CCDS55325.1																																																																																				0.711	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283		T	91150637	C	T	91150637	2	4	25	1	0	0	0	0	0	0	0	1	10789	535	19	1		1	NXNL2	9	91150637	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	70174137	91150637	50062794	38	1602											
CERCAM	51148	broad.mit.edu	37	chr9	131185156	131185156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccccaggtgtgccacGgaccacaatgtggacaacac	10	5	10	16	2	0	0	0	0	0	0	1	2	1	2	5	3	2	0	5	3	2	0	rs147490658	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:131185156G>A	ENST00000372838.4	+	2	605	c.207G>A	c.(205-207)acG>acA	p.T69T	CERCAM_ENST00000372842.1_5'UTR	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	69					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGTGTGCCACGGACCACAATG	0.602																																						uc004buz.4																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(205-207)acG>acA		Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.							64	55	58					9																	131185156		2203	4300	6503	SO:0001819	synonymous_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131185156G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.207G>A	9.37:g.131185156G>A						CERCAM_uc004buy.1_5'UTR|CERCAM_uc010mxz.3_5'UTR|CERCAM_uc010mya.1_5'Flank	p.T69T	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			1	605	+			69					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	c.207G>A	CCDS6901.2																																																																																				0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		A	131185156	G	A	131185156	2	1	25	1	0	0	0	0	0	0	0	1	3266	1103	39	2		2	CERCAM	9	131185156	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	40034519	131185156	10028275	39	1603											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889768	24889768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcctcagacggagtcGtctgctctcttttatctttg	4	17	8	12	2	5	1	1	0	4	1	8	2	6	2	1	1	1	2	1	1	1	4	rs530533376	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:24889768G>C	ENST00000396432.2	-	14	3425	c.2939C>G	c.(2938-2940)aCg>aGg	p.T980R	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.T767R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	979	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGACGGAGTCGTCTGCTCTCT	0.453																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2938-2940)aCg>aGg		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							76	78	77					10																	24889768		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889768G>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2939C>G	10.37:g.24889768G>C	ENSP00000379709:p.Thr980Arg					ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R	p.T980R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			13	3426	-			979			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2939C>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890050	0.33348	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.67	-3.05	0.05396	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.973128	0.08523	N	0.933113	T	0.60547	0.2277	N	0.05124	-0.11	0.09310	N	1	B;B	0.31318	0.273;0.319	B;B	0.43575	0.094;0.424	T	0.54984	-0.8211	10	0.20046	T	0.44	.	13.8972	0.63781	0.6588:0.0:0.3412:0.0	.	970;979	F8W9U9;Q5T5U3	.;RHG21_HUMAN	R	980;767;970;980;815	ENSP00000379709:T980R;ENSP00000365604:T767R;ENSP00000365592:T970R;ENSP00000405018:T980R	ENSP00000365604:T767R	T	-	2	0	ARHGAP21	24929774	0.000000	0.05858	0.002000	0.10522	0.507000	0.33981	-0.248000	0.08854	-0.615000	0.05679	-0.136000	0.14681	ACG		0.453	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24889768	G	C	24889768	3	2	25	1	0	0	0	0	1	0	0	0	871	1145	40	5	2989	5	ARHGAP21	10	24889768	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		24889768	110644979	40	1604											
APBB1IP	54518	broad.mit.edu	37	chr10	26825105	26825105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcgctattttcttttaCgggcttctggaatttattat	9	18	8	6	2	2	0	0	0	2	0	2	1	2	1	0	3	1	2	0	3	6	9			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:26825105C>T	ENST00000376236.4	+	10	1458	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	335	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.R335W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTTCTTTTACGGGCTTCTGG	0.338																																						uc001iss.3																			1	Substitution - Missense(1)	p.R335W(2)|p.R335L(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1003-1005)Cgg>Tgg		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.							99	117	110					10																	26825105		2202	4298	6500	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825105C>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1003C>T	10.37:g.26825105C>T	ENSP00000365411:p.Arg335Trp					APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	p.R335W	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			9	1324	+			335			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1003C>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147521	0.77888	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.77358	-1.09	5.93	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90622	0.4560	10	0.87932	D	0	.	16.0766	0.80971	0.1388:0.8612:0.0:0.0	.	335;335	B4E100;Q7Z5R6	.;AB1IP_HUMAN	W	335	ENSP00000365411:R335W	ENSP00000365411:R335W	R	+	1	2	APBB1IP	26865111	0.918000	0.31147	0.994000	0.49952	0.998000	0.95712	1.994000	0.40757	1.455000	0.47813	0.655000	0.94253	CGG		0.338	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		T	26825105	C	T	26825105	3	4	25	1	0	0	0	0	1	0	0	0	760	527	19	1	1033	1	APBB1IP	10	26825105	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	1935337	26825105	108709642	41	1605											
ANK3	288	broad.mit.edu	37	chr10	61829891	61829891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttggcgttctggctggcGttgtatcaggggttgttgct	3	15	16	7	2	2	0	1	0	1	0	2	0	2	0	0	5	1	8	0	5	1	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:61829891G>A	ENST00000280772.2	-	37	10939	c.10748C>T	c.(10747-10749)aCg>aTg	p.T3583M	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3583					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3583M(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGGCTGGCGTTGTATCAGG	0.488																																						uc001jky.3																			1	Substitution - Missense(1)	p.T3583M(2)|p.T3583T(1)	pancreas(1)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10747-10749)aCg>aTg		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							135	126	129					10																	61829891		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829891G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10748C>T	10.37:g.61829891G>A	ENSP00000280772:p.Thr3583Met					ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.T3583M	NM_020987	NP_066267	Q12955	ANK3_HUMAN			36	11086	-			3583					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10748C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666397	0.67814	.	.	ENSG00000151150	ENST00000280772	T	0.17528	2.27	5.77	5.77	0.91146	.	0.000000	0.43416	D	0.000572	T	0.39937	0.1097	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.06320	-1.0833	10	0.87932	D	0	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	3583	Q12955	ANK3_HUMAN	M	3583	ENSP00000280772:T3583M	ENSP00000280772:T3583M	T	-	2	0	ANK3	61499897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	ACG		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61829891	G	A	61829891	3	1	25	1	0	0	0	0	1	0	0	0	622	1145	40	1	2726	1	ANK3	10	61829891	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	35004786	61829891	73704856	42	1606											
OR5M3	219482	broad.mit.edu	37	chr11	56237372	56237372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatatgtgaagttaatgccgGcaagtatgatcattgtatat	14	14	9	4	1	1	2	1	2	0	0	1	2	1	2	1	1	1	4	1	1	8	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56237372G>A	ENST00000312240.2	-	1	642	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTTAATGCCGGCAAGTATGAT	0.413																																						uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(601-603)gCc>gTc		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.							128	124	126					11																	56237372		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237372G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.602C>T	11.37:g.56237372G>A	ENSP00000312208:p.Ala201Val					OR8U8_uc001nit.2_Intron	p.A201V	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			0	643	-	Esophageal squamous(21;0.00448)		201					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.602C>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390473	0.25118	.	.	ENSG00000174937	ENST00000312240	T	0.37915	1.17	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000386	T	0.55162	0.1903	M	0.67517	2.055	0.09310	N	1	P	0.46912	0.886	P	0.60682	0.878	T	0.48536	-0.9027	10	0.32370	T	0.25	-13.3566	15.9666	0.79979	0.0:0.0:1.0:0.0	.	201	Q8NGP4	OR5M3_HUMAN	V	201	ENSP00000312208:A201V	ENSP00000312208:A201V	A	-	2	0	OR5M3	55993948	0.000000	0.05858	0.048000	0.18961	0.006000	0.05464	0.367000	0.20382	2.341000	0.79615	0.549000	0.68633	GCC		0.413	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237372	G	A	56237372	3	1	25	1	0	0	0	0	1	0	0	0	11175	1203	42	3	323	3	OR5M3	11	56237372	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		56237372	78769144	43	1607											
OR9G4	283189	broad.mit.edu	37	chr11	56510792	56510792	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcattcaaaaatcctcCtatgtaggagccagcaacaa	15	9	7	10	0	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	7	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56510792C>A	ENST00000302957.3	-	1	495	c.496G>T	c.(496-498)Gga>Tga	p.G166*		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAAATCCTCCTATGTAGGAG	0.453																																						uc010rjo.2																			0		p.I165T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(496-498)Gga>Tga		Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.							82	85	84					11																	56510792		2201	4296	6497	SO:0001587	stop_gained	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510792C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.496G>T	11.37:g.56510792C>A	ENSP00000307515:p.Gly166*						p.G166*	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			0	496	-			166					Q6IF62|Q96RA9	Nonsense_Mutation	SNP	ENST00000302957.3	37	c.496G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581005	0.28180	.	.	ENSG00000172457	ENST00000302957	.	.	.	5.07	4.16	0.48862	.	0.000000	0.38897	N	0.001528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-8.8222	7.0668	0.25157	0.0:0.7346:0.1753:0.0901	.	.	.	.	X	166	.	ENSP00000307515:G166X	G	-	1	0	OR9G4	56267368	0.000000	0.05858	0.328000	0.25416	0.336000	0.28762	0.040000	0.13905	1.356000	0.45884	0.643000	0.83706	GGA		0.453	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		A	56510792	C	A	56510792	4	1	25	1	0	0	0	0	0	1	0	0	11251	690	24	5	490	5	OR9G4	11	56510792	Nonsense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	273420	56510792	78495724	44	1608											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62490074	62490074	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactttcaggagcacttacaGcaaagcagccaataacatca	17	7	6	11	0	2	0	2	0	0	0	2	1	2	1	1	1	7	3	1	1	5	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:62490074G>A	ENST00000301785.5	-	6	1286	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	HNRNPUL2-BSCL2_ENST00000403734.2_Splice_Site_p.A365V	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	365	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACTTACAGCAAAGCAGCC	0.458																																						uc001nuw.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.e6+1		Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.							103	95	98					11																	62490074		1945	4140	6085	SO:0001630	splice_region_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490074G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1095+1C>T	11.37:g.62490074G>A						HNRNPUL2_uc001nuu.2_Splice_Site	p.A365_splice	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			6	1324	-			365			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1095_splice	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523273	0.64747	.	.	ENSG00000214753	ENST00000301785	T	0.71698	-0.59	5.11	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.059215	0.64402	D	0.000003	T	0.47691	0.1459	N	0.02225	-0.63	0.45762	D	0.998653	B	0.20550	0.046	B	0.32724	0.151	T	0.39210	-0.9625	10	0.17832	T	0.49	-9.6721	13.254	0.60068	0.0:0.1605:0.8395:0.0	.	365	Q1KMD3	HNRL2_HUMAN	V	365	ENSP00000301785:A365V	ENSP00000301785:A365V	A	-	2	0	HNRNPUL2	62246650	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.924000	0.70054	1.323000	0.45263	0.650000	0.86243	GCT		0.458	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	Missense_Mutation	A	62490074	G	A	62490074	5	1	25	1	0	0	0	0	0	0	1	0	7275	985	34	3	1185	3	HNRNPUL2	11	62490074	Splice_Site	SNP	G	TCGA-06-0154-01A-03D-1491-08	5979282	62490074	72516442	45	1609											
KLC2	64837	broad.mit.edu	37	chr11	66033175	66033175	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggccctataccggcgcCagggcaagctggaagccgcg	7	4	17	13	4	0	0	0	0	0	0	0	1	0	1	4	5	3	2	4	5	4	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:66033175C>T	ENST00000417856.1	+	12	1627	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Nonsense_Mutation_p.Q385*|KLC2_ENST00000394067.2_Nonsense_Mutation_p.Q462*|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Nonsense_Mutation_p.Q385*|RP11-867G23.2_ENST00000533287.1_RNA|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Nonsense_Mutation_p.Q323*|KLC2_ENST00000316924.5_Nonsense_Mutation_p.Q462*|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	462					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATACCGGCGCCAGGGCAAGCT	0.647																																						uc010rov.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1384-1386)Cag>Tag		Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.							31	31	31					11																	66033175		2200	4295	6495	SO:0001587	stop_gained	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033175C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1384C>T	11.37:g.66033175C>T	ENSP00000399403:p.Gln462*					KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.3_5'Flank	p.Q462*	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN			11	1627	+			462					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Nonsense_Mutation	SNP	ENST00000417856.1	37	c.1384C>T	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	39	7.428508	0.98279	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	.	.	.	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.6272	14.7292	0.69368	0.0:1.0:0.0:0.0	.	.	.	.	X	462;462;462;385;385;323	.	ENSP00000314837:Q462X	Q	+	1	0	KLC2	65789751	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.290000	0.78711	2.010000	0.58986	0.491000	0.48974	CAG		0.647	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		T	66033175	C	T	66033175	4	4	25	1	0	0	0	0	0	1	0	0	8334	595	21	3	1426	3	KLC2	11	66033175	Nonsense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	3543101	66033175	68973341	46	1610											
CHORDC1	26973	broad.mit.edu	37	chr11	89951306	89951306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatatagttcctaccttTaatgcatcgtgaaagaccgg	14	11	8	8	2	0	2	0	1	0	1	2	3	1	2	3	1	2	2	3	1	7	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:89951306T>C	ENST00000320585.6	-	2	520	c.111A>G	c.(109-111)ttA>ttG	p.L37L	CHORDC1_ENST00000457199.2_Silent_p.L37L|CHORDC1_ENST00000530765.1_Silent_p.L37L	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	37	CHORD 1. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Interaction with PPP5C. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTCCTACCTTTAATGCATCGT	0.313																																						uc001pdg.2																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(109-111)ttA>ttG		Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.							44	43	43					11																	89951306		2201	4298	6499	SO:0001819	synonymous_variant	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89951306T>C	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1", "cysteine and histidine-rich domain (CHORD)-containing 1"			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.111A>G	11.37:g.89951306T>C						CHORDC1_uc009yvz.2_Silent_p.L37L	p.L37L	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			1	521	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	37			CHORD 1.|Interaction with PPP5C (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Silent	SNP	ENST00000320585.6	37	c.111A>G	CCDS8289.1																																																																																				0.313	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		C	89951306	T	C	89951306	2	2	25	1	0	0	0	0	0	0	0	1	3365	1751	61	4		4	CHORDC1	11	89951306	Silent	SNP	T	TCGA-06-0154-01A-03D-1491-08	23918131	89951306	45055210	47	1611											
KLRK1	22914	broad.mit.edu	37	chr12	10525755	10525755	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtacgtatttggagttgaAcagttttctatatagccttt	10	18	8	5	1	1	1	0	1	1	0	1	2	1	2	1	1	3	4	1	1	6	10			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:10525755A>G	ENST00000240618.6	-	8	749	c.609T>C	c.(607-609)tgT>tgC	p.C203C	KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Silent_p.C203C|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	203	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTGGAGTTGAACAGTTTTCTA	0.388																																						uc009zhj.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						c.(607-609)tgT>tgC		Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.							189	165	173					12																	10525755		2203	4300	6503	SO:0001819	synonymous_variant	22914				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	g.chr12:10525755A>G	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.609T>C	12.37:g.10525755A>G						AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.C203C|KLRK1_uc009zhk.3_Silent_p.C203C|KLRK1_uc001qyd.3_Silent_p.C203C	p.C203C	NM_007360	NP_001186734	P26718	NKG2D_HUMAN			7	786	-			203			C-type lectin.		A8K7K5|A8K7P4|Q9NR41	Silent	SNP	ENST00000240618.6	37	c.609T>C	CCDS8623.1																																																																																				0.388	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		G	10525755	A	G	10525755	2	3	25	1	0	0	0	0	0	0	0	1	8423	41	2	4		4	KLRK1	12	10525755	Silent	SNP	A	TCGA-06-0154-01A-03D-1491-08		10525755	123326140	48	1612											
PIK3C2G	5288	broad.mit.edu	37	chr12	18552608	18552608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagactctctgaagaaaaGaaaagatatttatggtttta	16	14	7	4	0	2	5	1	1	1	4	3	5	2	5	0	1	0	1	0	1	8	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:18552608G>C	ENST00000266497.5	+	14	2057	c.2019G>C	c.(2017-2019)aaG>aaC	p.K673N	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.K673N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.K714N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	673	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGAAGAAAAGAAAAGATATT	0.378																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2017-2019)aaG>aaC		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							73	73	73					12																	18552608		1807	4073	5880	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18552608G>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2019G>C	12.37:g.18552608G>C	ENSP00000266497:p.Lys673Asn					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.2_Missense_Mutation_p.K492N	p.K673N	NM_004570	NP_004561	O75747	P3C2G_HUMAN			14	2135	+		Hepatocellular(102;0.194)	673					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2019G>C	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007416	0.54361	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.63417	-0.04;-0.04;-0.04	5.03	4.09	0.47781	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.145221	0.45606	D	0.000345	T	0.56046	0.1959	L	0.43152	1.355	0.36280	D	0.855748	P;P;P	0.48589	0.912;0.893;0.849	P;B;P	0.45406	0.479;0.347;0.479	T	0.67086	-0.5759	10	0.72032	D	0.01	-20.3523	9.9482	0.41623	0.0:0.1489:0.6969:0.1541	.	713;714;673	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	673;673;714	ENSP00000404845:K673N;ENSP00000266497:K673N;ENSP00000445381:K714N	ENSP00000266497:K673N	K	+	3	2	PIK3C2G	18443875	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.317000	0.51968	2.616000	0.88540	0.585000	0.79938	AAG		0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		C	18552608	G	C	18552608	3	2	25	1	0	0	0	0	1	0	0	0	11911	933	33	5	2073	5	PIK3C2G	12	18552608	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	8026853	18552608	115299287	49	1613											
OR6C74	254783	broad.mit.edu	37	chr12	55641790	55641790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagcattttctacatgttCttcccacatggtggtcgtgt	9	15	8	9	1	2	0	0	0	2	0	4	0	3	0	1	2	2	2	1	2	3	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:55641790C>T	ENST00000343870.4	+	1	809	c.719C>T	c.(718-720)tCt>tTt	p.S240F		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTACATGTTCTTCCCACATG	0.373																																						uc010spg.2																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(718-720)tCt>tTt		Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.							86	87	87					12																	55641790		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641790C>T		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.719C>T	12.37:g.55641790C>T	ENSP00000342836:p.Ser240Phe						p.S240F	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			0	719	+			240						Missense_Mutation	SNP	ENST00000343870.4	37	c.719C>T	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	c	16.22	3.061612	0.55432	.	.	ENSG00000197706	ENST00000343870	T	0.37058	1.22	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000085	T	0.58836	0.2150	M	0.89163	3.01	0.09310	N	1	D	0.56035	0.974	P	0.59012	0.85	T	0.60606	-0.7230	10	0.72032	D	0.01	.	9.3729	0.38266	0.1462:0.7773:0.0:0.0765	.	240	A6NCV1	O6C74_HUMAN	F	240	ENSP00000342836:S240F	ENSP00000342836:S240F	S	+	2	0	OR6C74	53928057	0.000000	0.05858	0.995000	0.50966	0.950000	0.60333	0.385000	0.20685	2.722000	0.93159	0.551000	0.68910	TCT		0.373	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			T	55641790	C	T	55641790	3	4	25	1	0	0	0	0	1	0	0	0	11198	913	32	3	721	3	OR6C74	12	55641790	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	37089182	55641790	78210105	50	1614											
LRP1	4035	broad.mit.edu	37	chr12	57569290	57569290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagccacaactgctcagtgGcacctggcgaaggcattgtg	9	7	13	12	1	1	0	1	0	0	0	1	1	1	0	2	3	3	4	2	3	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:57569290G>C	ENST00000243077.3	+	23	4061	c.3595G>C	c.(3595-3597)Gca>Cca	p.A1199P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1199	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCTCAGTGGCACCTGGCGA	0.602											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3595-3597)Gca>Cca		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						73	62	66					12																	57569290		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57569290G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3595G>C	12.37:g.57569290G>C	ENSP00000243077:p.Ala1199Pro		OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.A1199P	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	4061	+			1199			EGF-like 5.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3595G>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165125	0.57476	.	.	ENSG00000123384	ENST00000243077	D	0.87412	-2.25	4.87	4.87	0.63330	Epidermal growth factor-like (1);	0.153969	0.39834	N	0.001241	D	0.86781	0.6015	L	0.61218	1.895	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	D	0.85992	0.1489	10	0.31617	T	0.26	.	16.9476	0.86233	0.0:0.0:1.0:0.0	.	1199	Q07954	LRP1_HUMAN	P	1199	ENSP00000243077:A1199P	ENSP00000243077:A1199P	A	+	1	0	LRP1	55855557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.514000	0.67043	2.537000	0.85549	0.655000	0.94253	GCA		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		C	57569290	G	C	57569290	3	2	25	1	0	0	0	0	1	0	0	0	8951	1203	42	5	3685	5	LRP1	12	57569290	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	1927500	57569290	76282605	51	1615											
GALNT9	50614	broad.mit.edu	37	chr12	132682414	132682414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcatgcggcccgtgcCgtcatccaccagacacttgg	6	7	14	14	3	1	1	1	0	0	1	2	1	2	1	4	4	2	1	4	4	0	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:132682414C>T	ENST00000328957.8	-	10	1587	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S	GALNT9_ENST00000397325.2_Missense_Mutation_p.G164S|GALNT9_ENST00000541995.1_Missense_Mutation_p.G164S|GALNT9_ENST00000535228.1_Missense_Mutation_p.G281S	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGGCCCGTGCCGTCATCCACC	0.657																																					Colon(186;2147 2752 13553 41466)	uc001ukc.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1588-1590)Ggc>Agc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.							20	26	24					12																	132682414		2132	4227	6359	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132682414C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1588G>A	12.37:g.132682414C>T	ENSP00000329846:p.Gly530Ser					GALNT9_uc009zyr.3_Missense_Mutation_p.G304S|GALNT9_uc001ukb.3_Missense_Mutation_p.G387S|GALNT9_uc001uka.3_Missense_Mutation_p.G164S	p.G530S	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	9	1704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	530			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1588G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.35|13.35	2.210354|2.210354	0.39003|0.39003	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.28454|.	1.61;1.61;1.61;1.61|.	4.29|4.29	4.29|4.29	0.51040|0.51040	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.221342|.	0.47093|.	D|.	0.000244|.	T|T	0.66819|0.66819	0.2828|0.2828	L|L	0.47016|0.47016	1.485|1.485	0.54753|0.54753	D|D	0.999988|0.999988	P;B;B|.	0.36974|.	0.576;0.206;0.013|.	B;B;B|.	0.33960|.	0.173;0.061;0.026|.	T|T	0.65635|0.65635	-0.6120|-0.6120	10|5	0.07175|.	T|.	0.84|.	.|.	16.7802|16.7802	0.85561|0.85561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	281;530;387|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	S|Q	164;530;281;164|302	ENSP00000380488:G164S;ENSP00000329846:G530S;ENSP00000439745:G281S;ENSP00000440544:G164S|.	ENSP00000329846:G530S|.	G|R	-|-	1|2	0|0	GALNT9|GALNT9	131248367|131248367	0.997000|0.997000	0.39634|0.39634	0.464000|0.464000	0.27143|0.27143	0.409000|0.409000	0.31022|0.31022	3.599000|3.599000	0.54045|0.54045	1.929000|1.929000	0.55896|0.55896	0.555000|0.555000	0.69702|0.69702	GGC|CGG		0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		T	132682414	C	T	132682414	3	4	25	1	0	0	0	0	1	0	0	0	6220	652	23	2	231	2	GALNT9	12	132682414	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	75113124	132682414	1169481	52	1616											
SYNE2	23224	broad.mit.edu	37	chr14	64457171	64457171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttgatgagcttatggcaAgaagtgaagatatgttacaa	14	13	11	3	0	0	5	0	3	0	2	0	5	0	5	0	1	2	4	0	1	7	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr14:64457171A>G	ENST00000344113.4	+	20	2568	c.2356A>G	c.(2356-2358)Aga>Gga	p.R786G	SYNE2_ENST00000358025.3_Missense_Mutation_p.R786G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.R786G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	786					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTTATGGCAAGAAGTGAAGA	0.343																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2356-2358)Aga>Gga		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							93	89	90					14																	64457171		1835	4098	5933	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64457171A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2356A>G	14.37:g.64457171A>G	ENSP00000341781:p.Arg786Gly					SYNE2_uc001xgm.3_Missense_Mutation_p.R786G|SYNE2_uc021ruh.1_Missense_Mutation_p.R786G	p.R786G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	19	2586	+			786					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2356A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693506	0.30052	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57436	0.76;0.77;0.4	5.39	5.39	0.77823	.	0.352176	0.24748	N	0.035940	T	0.58337	0.2115	L	0.44542	1.39	0.80722	D	1	D;D	0.57571	0.965;0.98	P;P	0.57152	0.656;0.814	T	0.58797	-0.7573	10	0.48119	T	0.1	.	11.8017	0.52130	1.0:0.0:0.0:0.0	.	786;786	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	786	ENSP00000350719:R786G;ENSP00000341781:R786G;ENSP00000452570:R786G	ENSP00000261678:R786G	R	+	1	2	SYNE2	63526924	1.000000	0.71417	0.825000	0.32803	0.406000	0.30931	3.593000	0.54001	2.045000	0.60652	0.460000	0.39030	AGA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64457171	A	G	64457171	3	3	25	1	0	0	0	0	1	0	0	0	15443	64	3	4	2430	4	SYNE2	14	64457171	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		64457171	42892369	53	1617											
GABRA5	2558	broad.mit.edu	37	chr15	27182399	27182399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcggtggtggtggcGgaagatggctccagactgaa	10	7	16	8	2	0	3	0	1	0	2	2	4	1	4	2	6	0	1	2	6	3	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:27182399G>A	ENST00000335625.5	+	8	1536	c.648G>A	c.(646-648)gcG>gcA	p.A216A	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.A216A|GABRA5_ENST00000355395.5_Silent_p.A216A	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	216					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGGTGGTGGCGGAAGATGGCT	0.577																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(646-648)gcG>gcA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						95	99	98					15																	27182399		2089	4209	6298	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27182399G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.648G>A	15.37:g.27182399G>A						GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.A216A	p.A216A	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	7	1180	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	216					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.648G>A	CCDS45194.1																																																																																				0.577	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27182399	G	A	27182399	2	1	25	1	0	0	0	0	0	0	0	1	6164	1103	39	2		2	GABRA5	15	27182399	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08		27182399	75348993	54	1618											
BAHD1	22893	broad.mit.edu	37	chr15	40751044	40751044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcaatgctgaagctctCaataacctgctgctggagcg	9	10	9	13	1	2	1	2	1	1	0	4	2	3	2	2	1	6	4	2	1	4	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:40751044C>T	ENST00000416165.1	+	2	452	c.381C>T	c.(379-381)ctC>ctT	p.L127L	BAHD1_ENST00000560846.1_Silent_p.L127L|BAHD1_ENST00000561234.1_Silent_p.L127L	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	127					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTGAAGCTCTCAATAACCTGC	0.682																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(379-381)ctC>ctT		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							28	34	32					15																	40751044		2191	4280	6471	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751044C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.381C>T	15.37:g.40751044C>T						BAHD1_uc001zlt.2_Silent_p.L127L|BAHD1_uc010bbp.1_Silent_p.L127L|BAHD1_uc001zlv.2_Silent_p.L127L	p.L127L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	452	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	127					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.381C>T	CCDS10058.1																																																																																				0.682	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		T	40751044	C	T	40751044	2	4	25	1	0	0	0	0	0	0	0	1	1297	813	29	3		3	BAHD1	15	40751044	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	13568645	40751044	61780348	55	1619											
CREBBP	1387	broad.mit.edu	37	chr16	3807844	3807844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatccaagggactgcatgAcagggtcaatttcctgctca	12	10	9	10	0	2	1	2	1	0	0	4	2	4	2	2	2	2	2	2	2	4	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:3807844A>G	ENST00000262367.5	-	18	4384	c.3575T>C	c.(3574-3576)gTc>gCc	p.V1192A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1154A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1192					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGACTGCATGACAGGGTCAAT	0.443			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3574-3576)gTc>gCc		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							110	94	100					16																	3807844		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807844A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3575T>C	16.37:g.3807844A>G	ENSP00000262367:p.Val1192Ala					CREBBP_uc002cvw.3_Missense_Mutation_p.V1154A	p.V1192A	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	17	3779	-		Ovarian(90;0.0266)	1192					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3575T>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067570	0.55539	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.18502	2.21;2.21	5.59	5.59	0.84812	Domain of unknown function DUF902, CREBbp (1);Bromodomain (3);	0.000000	0.64402	D	0.000004	T	0.40498	0.1119	M	0.62723	1.935	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.85130	0.997;0.997	T	0.14727	-1.0462	10	0.54805	T	0.06	-23.9721	15.7654	0.78123	1.0:0.0:0.0:0.0	.	1222;1192	Q4LE28;Q92793	.;CBP_HUMAN	A	1192;1222;1154	ENSP00000262367:V1192A;ENSP00000371502:V1154A	ENSP00000262367:V1192A	V	-	2	0	CREBBP	3747845	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	9.210000	0.95106	2.127000	0.65507	0.477000	0.44152	GTC		0.443	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3807844	A	G	3807844	3	3	25	1	0	0	0	0	1	0	0	0	3861	275	10	4	3809	4	CREBBP	16	3807844	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		3807844	86546909	56	1620											
XYLT1	64131	broad.mit.edu	37	chr16	17228564	17228564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacggcttcaaacttgCgggcaaagaaggtaggccgg	11	6	13	11	3	2	1	2	0	0	1	2	1	2	1	2	5	2	3	2	5	4	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:17228564C>T	ENST00000261381.6	-	9	1877	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	598			R -> C (in DBQD2). {ECO:0000269|PubMed:24581741}.		cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R598H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCAAACTTGCGGGCAAAGAA	0.552																																						uc002dfa.3																			2	Substitution - Missense(2)	p.R598H(4)	prostate(1)|endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1792-1794)cGc>cAc		Homo sapiens xylosyltransferase I (XYLT1), mRNA.							128	129	129					16																	17228564		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228564C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1793G>A	16.37:g.17228564C>T	ENSP00000261381:p.Arg598His						p.R598H	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			8	1878	-			598					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1793G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239213	0.95240	.	.	ENSG00000103489	ENST00000261381	T	0.21031	2.03	5.03	5.03	0.67393	.	0.145178	0.64402	D	0.000010	T	0.51160	0.1658	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	P	0.59288	0.855	T	0.63532	-0.6616	10	0.87932	D	0	-22.1412	17.726	0.88365	0.0:1.0:0.0:0.0	.	598	Q86Y38	XYLT1_HUMAN	H	598	ENSP00000261381:R598H	ENSP00000261381:R598H	R	-	2	0	XYLT1	17136065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.485000	0.83878	0.561000	0.74099	CGC		0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		T	17228564	C	T	17228564	3	4	25	1	0	0	0	0	1	0	0	0	17460	768	27	1	1102	1	XYLT1	16	17228564	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13420720	17228564	73126189	57	1621											
RLTPR	146206	broad.mit.edu	37	chr16	67683162	67683162	+	Frame_Shift_Del	DEL	C	C	-																															ggcccctgcccacagggagaCcctggacgacgtcctgcacc																										TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:67683162delC	ENST00000334583.6	+	19	2022	c.1694delC	c.(1693-1695)accfs	p.T565fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.T529fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	565					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CACAGGGAGACCCTGGACGAC	0.637																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1693-1695)accfs		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							52	59	57					16																	67683162		2001	4152	6153	SO:0001589	frameshift_variant	146206							g.chr16:67683162delC	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1694delC	16.37:g.67683162delC	ENSP00000334958:p.Thr565fs					RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.2_Frame_Shift_Del_p.T529fs	p.T565fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	18	1814	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	565					B8X2Z3	Frame_Shift_Del	DEL	ENST00000334583.6	37	c.1694delC	CCDS45513.1																																																																																				0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		-	67683162	C	-	67683162	7	5	25	1	0	1	0	1	0	0	0	0	13394	507	18	0	1768	0	RLTPR	16	67683162	Frame_Shift_Del	DEL	C	TCGA-06-0154-01A-03D-1491-08	50454598	67683162	22671591	58	1622											
ZNF23	7571	broad.mit.edu	37	chr16	71482423	71482423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccttacattgatagggcTtttctccagtatggattcgg	8	16	9	8	1	1	1	0	1	1	0	4	2	2	2	2	3	1	2	2	3	3	8			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:71482423T>C	ENST00000393539.2	-	6	2318	c.1505A>G	c.(1504-1506)aAg>aGg	p.K502R	ZNF23_ENST00000564528.1_Missense_Mutation_p.K444R|ZNF23_ENST00000428724.2_Missense_Mutation_p.K444R|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K502R|ZNF23_ENST00000357254.4_Missense_Mutation_p.K502R	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTGATAGGGCTTTTCTCCAGT	0.403																																						uc002faf.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(1504-1506)aAg>aGg		Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.							133	124	127					16																	71482423		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482423T>C	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1505A>G	16.37:g.71482423T>C	ENSP00000377171:p.Lys502Arg					ZNF23_uc002fah.3_Missense_Mutation_p.K502R|ZNF23_uc002fad.3_Missense_Mutation_p.K444R|ZNF23_uc010vmf.2_Missense_Mutation_p.K444R|ZNF23_uc002fag.3_Missense_Mutation_p.K444R|ZNF23_uc002fai.3_Missense_Mutation_p.K541R	p.K502R	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	5	2319	-		Ovarian(137;0.00768)	502					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1505A>G	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192284	0.58017	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.27	4.27	0.50696	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000301	T	0.36908	0.0984	L	0.31371	0.925	0.36595	D	0.874352	D;D	0.58268	0.963;0.982	D;D	0.79784	0.917;0.993	T	0.43877	-0.9364	10	0.66056	D	0.02	-28.359	12.0056	0.53257	0.0:0.0:0.0:1.0	.	502;502	B3KR55;P17027	.;ZNF23_HUMAN	R	502;502;502;444;444;274	ENSP00000377171:K502R;ENSP00000349796:K502R;ENSP00000395712:K502R;ENSP00000387673:K444R	ENSP00000349796:K502R	K	-	2	0	ZNF23	70039924	0.324000	0.24652	0.996000	0.52242	0.983000	0.72400	0.617000	0.24359	2.148000	0.66965	0.459000	0.35465	AAG		0.403	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		C	71482423	T	C	71482423	3	2	25	1	0	0	0	0	1	0	0	0	17780	1609	56	4	430	4	ZNF23	16	71482423	Missense_Mutation	SNP	T	TCGA-06-0154-01A-03D-1491-08	3799261	71482423	18872330	59	1623											
MYH2	4620	broad.mit.edu	37	chr17	10428788	10428788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtaagtttttgttctctCgcttcagggtttctagctga	5	18	10	8	1	3	1	1	1	2	0	5	1	3	1	0	1	1	7	0	1	2	7			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10428788C>T	ENST00000245503.5	-	32	4901	c.4517G>A	c.(4516-4518)cGa>cAa	p.R1506Q	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1506Q|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1506					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1506Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGTTCTCTCGCTTCAGGGT	0.428																																						uc010coi.3																			1	Substitution - Missense(1)	p.R1506Q(2)|p.R1506*(1)	breast(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4516-4518)cGa>cAa		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							93	94	94					17																	10428788		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428788C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4517G>A	17.37:g.10428788C>T	ENSP00000245503:p.Arg1506Gln					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1506Q|MYH2_uc010coj.3_Intron	p.R1506Q	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			31	4645	-			1506					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4517G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409147	0.96072	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83506	-1.73;-1.73	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.33382	U	0.004965	D	0.95092	0.8410	H	0.98525	4.255	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	D	0.96816	0.9600	10	0.87932	D	0	.	18.9276	0.92552	0.0:1.0:0.0:0.0	.	1506	Q9UKX2	MYH2_HUMAN	Q	1506	ENSP00000245503:R1506Q;ENSP00000380367:R1506Q	ENSP00000245503:R1506Q	R	-	2	0	MYH2	10369513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.630000	0.83225	2.713000	0.92767	0.591000	0.81541	CGA		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10428788	C	T	10428788	3	4	25	1	0	0	0	0	1	0	0	0	10035	884	31	2	1344	2	MYH2	17	10428788	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		10428788	70766422	60	1624											
MYH2	4620	broad.mit.edu	37	chr17	10442604	10442604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggcaaccatccacaggaac	9	8	12	12	1	0	1	0	1	0	0	2	2	2	2	3	3	5	4	3	3	2	1	rs201040489		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10442604C>T	ENST00000245503.5	-	14	1718	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R445H|MYH2_ENST00000532183.2_Missense_Mutation_p.R445H|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	445	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R445H(3)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGTTGATGCGGGCAACCAT	0.473													C|||	1	0.000199681	0	0	5008	,	,		18714	0.001		0	False		,,,				2504	0					uc010coi.3																			3	Substitution - Missense(3)	p.R445H(6)	biliary_tract(1)|ovary(1)|breast(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1333-1335)cGc>cAc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	172	166	168		1334,1334	5.4	1	17		168	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	445/1942,445/1942	10442604	2,13004	2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442604C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1334G>A	17.37:g.10442604C>T	ENSP00000245503:p.Arg445His					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R445H|MYH2_uc010coj.3_Missense_Mutation_p.R445H	p.R445H	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			13	1462	-			445			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1334G>A	CCDS11156.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.437302	0.96168	0.0	2.33E-4	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.88741	-2.42;-2.42;-2.42	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.000000	0.40144	U	0.001168	D	0.95796	0.8632	M	0.91561	3.22	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.985	D	0.96516	0.9382	10	0.87932	D	0	.	18.2166	0.89887	0.0:1.0:0.0:0.0	.	445;445	Q567P6;Q9UKX2	.;MYH2_HUMAN	H	445	ENSP00000433944:R445H;ENSP00000245503:R445H;ENSP00000380367:R445H	ENSP00000245503:R445H	R	-	2	0	MYH2	10383329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.547000	0.85894	0.585000	0.79938	CGC		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10442604	C	T	10442604	3	4	25	1	0	0	0	0	1	0	0	0	10035	768	27	1	4599	1	MYH2	17	10442604	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13816	10442604	70752606	61	1625											
GAS2L2	246176	broad.mit.edu	37	chr17	34074267	34074267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggccgggggcttcaGgaagctgcctggcttgtgtg	3	10	20	8	1	1	0	1	0	0	0	1	1	1	1	2	7	2	3	2	7	1	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:34074267G>A	ENST00000254466.6	-	5	880	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	GAS2L2_ENST00000587565.1_Silent_p.L269L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	285					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGGCTTCAGGAAGCTGCCT	0.597																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(853-855)Ctg>Ttg		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							128	136	134					17																	34074267		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074267G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.853C>T	17.37:g.34074267G>A							p.L285L	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	881	-		Ovarian(249;0.17)	285					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.853C>T	CCDS11298.1																																																																																				0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		A	34074267	G	A	34074267	2	1	25	1	0	0	0	0	0	0	0	1	6247	991	35	3		3	GAS2L2	17	34074267	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	23631663	34074267	47120943	62	1626											
KRT33B	3884	broad.mit.edu	37	chr17	39522870	39522870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgcagggactgctccGtctggtacctgcacacacag	7	7	12	15	2	1	0	0	0	1	0	2	1	2	1	3	2	4	5	3	2	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39522870G>A	ENST00000251646.3	-	3	489	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	147	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGACTGCTCCGTCTGGTACCT	0.517																																						uc002hwl.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(439-441)aCg>aTg		Homo sapiens keratin 33B (KRT33B), mRNA.							43	46	45					17																	39522870		2189	4300	6489	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39522870G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.440C>T	17.37:g.39522870G>A	ENSP00000251646:p.Thr147Met						p.T147M	NM_002279	NP_002270	Q14525	KT33B_HUMAN			2	485	-		Breast(137;0.000496)	147			Coil 1B.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.440C>T	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.370166	0.24771	.	.	ENSG00000131738	ENST00000251646	D	0.89485	-2.52	4.51	1.13	0.20643	Filament (1);	0.189610	0.38111	N	0.001808	D	0.84511	0.5488	M	0.68593	2.085	0.09310	N	1	P	0.35780	0.52	B	0.32624	0.149	T	0.76091	-0.3086	10	0.59425	D	0.04	.	8.4993	0.33148	0.0:0.2475:0.3788:0.3737	.	147	Q14525	KT33B_HUMAN	M	147	ENSP00000251646:T147M	ENSP00000251646:T147M	T	-	2	0	KRT33B	36776396	0.008000	0.16893	0.014000	0.15608	0.066000	0.16364	0.040000	0.13905	0.221000	0.20879	0.561000	0.74099	ACG		0.517	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		A	39522870	G	A	39522870	3	1	25	1	0	0	0	0	1	0	0	0	8470	1145	40	1	794	1	KRT33B	17	39522870	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	5448603	39522870	41672340	63	1627											
KRT34	3885	broad.mit.edu	37	chr17	39535941	39535941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagtgtccacctccaCgttgaggcggtctccaagct	6	8	14	13	2	1	1	0	1	1	0	4	1	3	1	4	4	1	3	4	4	1	1	rs140296098		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39535941C>T	ENST00000394001.1	-	4	787	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	253	Linker 12.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.552																																						uc002hwm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(757-759)Gtg>Atg		Homo sapiens keratin 34 (KRT34), mRNA.		C	MET/VAL	10,4396	16.8+/-37.8	0,10,2193	86	69	75		757	3.6	1	17	dbSNP_134	75	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	21	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	253/437	39535941	10,12996	2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535941C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.757G>A	17.37:g.39535941C>T	ENSP00000377570:p.Val253Met						p.V253M	NM_021013	NP_066293	O76011	KRT34_HUMAN			3	769	-		Breast(137;0.000496)	253			Linker 12.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.757G>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.277093	0.59758	0.00227	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.6	3.63	0.41609	Filament (1);	0.119889	0.38381	N	0.001715	T	0.78317	0.4264	M	0.83223	2.63	0.40106	D	0.976437	D	0.89917	1.0	D	0.72338	0.977	T	0.81551	-0.0881	9	0.87932	D	0	.	11.5788	0.50879	0.0:0.9125:0.0:0.0875	.	253	O76011	KRT34_HUMAN	M	211;253	.	ENSP00000251648:V253M	V	-	1	0	KRT34	36789467	0.984000	0.35163	0.986000	0.45419	0.274000	0.26718	2.656000	0.46716	1.049000	0.40321	0.603000	0.83216	GTG		0.552	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		T	39535941	C	T	39535941	3	4	25	1	0	0	0	0	1	0	0	0	8471	536	19	1	569	1	KRT34	17	39535941	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13071	39535941	41659269	64	1628											
OTOP3	347741	broad.mit.edu	37	chr17	72937902	72937902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggcccctctgggtgcGgggtgagtgtcaggttgctg	2	9	20	10	3	2	1	1	1	1	0	2	1	2	1	2	6	2	2	2	6	0	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:72937902G>A	ENST00000328801.4	+	2	488	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	163						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTCTGGGTGCGGGGTGAGTGT	0.687																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(487-489)cGg>cAg		Homo sapiens otopetrin 3 (OTOP3), mRNA.							19	20	20					17																	72937902		2202	4300	6502	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937902G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.488G>A	17.37:g.72937902G>A	ENSP00000328090:p.Arg163Gln					OTOP3_uc010wrq.2_Missense_Mutation_p.R145Q	p.R163Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			1	488	+	all_lung(278;0.151)|Lung NSC(278;0.185)		163						Missense_Mutation	SNP	ENST00000328801.4	37	c.488G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	g	14.59	2.581800	0.46006	.	.	ENSG00000182938	ENST00000328801	T	0.14144	2.53	3.91	2.85	0.33270	.	0.283503	0.23594	N	0.046517	T	0.09291	0.0229	L	0.38531	1.155	0.26226	N	0.979088	B	0.27625	0.183	B	0.12837	0.008	T	0.15122	-1.0448	10	0.51188	T	0.08	-15.7856	6.7893	0.23692	0.284:0.0:0.716:0.0	.	163	Q7RTS5	OTOP3_HUMAN	Q	163	ENSP00000328090:R163Q	ENSP00000328090:R163Q	R	+	2	0	OTOP3	70449497	0.994000	0.37717	1.000000	0.80357	0.819000	0.46315	2.084000	0.41625	1.984000	0.57885	0.457000	0.33378	CGG		0.687	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		A	72937902	G	A	72937902	3	1	25	1	0	0	0	0	1	0	0	0	11307	1116	39	2	494	2	OTOP3	17	72937902	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	33401961	72937902	8257308	65	1629											
ZFR2	23217	broad.mit.edu	37	chr19	3825291	3825291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgctcgaggcacacaCgctggggccagtgggggacg	6	5	18	12	3	0	0	0	0	0	0	1	2	0	1	2	6	1	3	2	6	0	0	rs371712225		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:3825291C>T	ENST00000262961.4	-	7	1160	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	384							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GAGGCACACACGCTGGGGCCA	0.672																																						uc002lyw.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1150-1152)Gtg>Atg		Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.		C	MET/VAL	0,3926		0,0,1963	11	14	13		1150	-4.2	0	19		13	1,8285		0,1,4142	no	missense	ZFR2	NM_015174.1	21	0,1,6105	TT,TC,CC		0.0121,0.0,0.0082	benign	384/940	3825291	1,12211	1963	4143	6106	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3825291C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1150G>A	19.37:g.3825291C>T	ENSP00000262961:p.Val384Met					ZFR2_uc010xhx.1_Intron	p.V384M	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	6	1162	-			384						Missense_Mutation	SNP	ENST00000262961.4	37	c.1150G>A	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771133	0.16051	0.0	1.21E-4	ENSG00000105278	ENST00000262961	T	0.07216	3.21	2.83	-4.2	0.03823	.	1.136060	0.07102	N	0.840533	T	0.05364	0.0142	L	0.41824	1.3	0.09310	N	1	P	0.36354	0.549	B	0.31390	0.129	T	0.34976	-0.9807	10	0.33141	T	0.24	-1.6668	3.7064	0.08403	0.1921:0.2857:0.0:0.5222	.	384	Q9UPR6	ZFR2_HUMAN	M	384	ENSP00000262961:V384M	ENSP00000262961:V384M	V	-	1	0	ZFR2	3776291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.425000	0.02446	-0.682000	0.05197	0.462000	0.41574	GTG		0.672	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3825291	C	T	3825291	3	4	25	1	0	0	0	0	1	0	0	0	17657	536	19	1	1721	1	ZFR2	19	3825291	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		3825291	55303692	66	1630											
OR7D2	162998	broad.mit.edu	37	chr19	9297245	9297245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggtccacttcacttctgCggtgactcactcttcccaga	6	12	9	14	1	4	2	2	1	2	1	6	2	6	2	2	3	1	0	2	3	0	3	rs201184916		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:9297245C>T	ENST00000344248.2	+	1	967	c.788C>T	c.(787-789)gCg>gTg	p.A263V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	263					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A263V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTCACTTCTGCGGTGACTCAC	0.507																																						uc002mkz.1																			1	Substitution - Missense(1)	p.A263V(2)	lung(1)	breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(787-789)gCg>gTg		Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.							90	80	83					19																	9297245		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297245C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.788C>T	19.37:g.9297245C>T	ENSP00000345563:p.Ala263Val						p.A263V	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			0	976	+			263					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.788C>T	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401737	0.25291	.	.	ENSG00000188000	ENST00000344248	T	0.00152	8.66	2.21	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.385589	0.18737	N	0.132553	T	0.00178	0.0005	L	0.50919	1.6	0.09310	N	1	B	0.26258	0.145	B	0.35413	0.202	T	0.22906	-1.0203	10	0.66056	D	0.02	.	5.5954	0.17323	0.0:0.7124:0.0:0.2876	.	263	Q96RA2	OR7D2_HUMAN	V	263	ENSP00000345563:A263V	ENSP00000345563:A263V	A	+	2	0	OR7D2	9158245	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.684000	0.05173	0.518000	0.28383	0.511000	0.50034	GCG		0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			T	9297245	C	T	9297245	3	4	25	1	0	0	0	0	1	0	0	0	11219	768	27	1	790	1	OR7D2	19	9297245	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	5471954	9297245	49831738	67	1631											
TRMT1	55621	broad.mit.edu	37	chr19	13218442	13218442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctctgatagtcgctccCgtttcaccggacattccttc	6	14	7	14	3	2	1	1	1	1	0	7	2	4	2	3	1	0	2	3	1	2	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:13218442C>T	ENST00000592062.1	-	15	2099	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	TRMT1_ENST00000357720.4_Missense_Mutation_p.R510Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.R510Q|TRMT1_ENST00000221504.8_Missense_Mutation_p.R481Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	510							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TAGTCGCTCCCGTTTCACCGG	0.617																																						uc002mwj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1528-1530)cGg>cAg		Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.							64	41	49					19																	13218442		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13218442C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1529G>A	19.37:g.13218442C>T	ENSP00000466967:p.Arg510Gln					TRMT1_uc010xmy.1_Missense_Mutation_p.R114Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R481Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R510Q|TRMT1_uc010xmz.1_Missense_Mutation_p.R296Q	p.R510Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	12	1779	-			510					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1529G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009238	0.35415	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.09538	2.97;2.97;2.97	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.58810	1.83	0.58432	D	0.999997	P;P	0.42518	0.782;0.695	B;B	0.38264	0.269;0.09	T	0.08932	-1.0698	10	0.33141	T	0.24	-23.3649	13.6456	0.62279	0.0:1.0:0.0:0.0	.	481;510	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	510;510;481	ENSP00000350352:R510Q;ENSP00000416149:R510Q;ENSP00000221504:R481Q	ENSP00000221504:R481Q	R	-	2	0	TRMT1	13079442	1.000000	0.71417	0.999000	0.59377	0.089000	0.18198	4.932000	0.63476	2.081000	0.62600	0.455000	0.32223	CGG		0.617	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		T	13218442	C	T	13218442	3	4	25	1	0	0	0	0	1	0	0	0	16558	652	23	2	466	2	TRMT1	19	13218442	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	3921197	13218442	45910541	68	1632											
NLRP2	55655	broad.mit.edu	37	chr19	55494686	55494686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtacagaagctgctttcCggagtagaaagactcaggaa	14	7	12	8	2	1	3	1	0	0	3	2	6	2	5	1	2	3	4	1	2	5	3	rs190374903		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:55494686C>T	ENST00000543010.1	+	6	1763	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	NLRP2_ENST00000339757.7_Silent_p.S518S|NLRP2_ENST00000537859.1_Silent_p.S518S|NLRP2_ENST00000538819.1_Silent_p.S516S|NLRP2_ENST00000263437.6_Silent_p.S537S|NLRP2_ENST00000427260.2_Silent_p.S517S|NLRP2_ENST00000391721.4_Silent_p.S516S|NLRP2_ENST00000448584.2_Silent_p.S540S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	540					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCTGCTTTCCGGAGTAGAAA	0.552													C|||	1	0.000199681	0	0	5008	,	,		18031	0		0.001	False		,,,				2504	0					uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1618-1620)tcC>tcT		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.		C	,,,	0,4406		0,0,2203	88	81	84		1620,1554,1551,1620	0.6	0	19		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	540/1063,518/1041,517/1040,540/1063	55494686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494686C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1620C>T	19.37:g.55494686C>T						NLRP2_uc010yfp.2_Silent_p.S517S|NLRP2_uc002qij.3_Silent_p.S540S|NLRP2_uc010esp.3_Silent_p.S518S|NLRP2_uc010esn.3_Silent_p.S516S|NLRP2_uc010eso.3_Silent_p.S537S	p.S540S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	5	1731	+			540					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1620C>T	CCDS12913.1																																																																																				0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55494686	C	T	55494686	2	4	25	1	0	0	0	0	0	0	0	1	10477	639	23	2		2	NLRP2	19	55494686	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	42276244	55494686	3634297	69	1633											
PDYN	5173	broad.mit.edu	37	chr20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgggacgaatgcgccGcaagaagcccccatagcgtt	10	6	13	12	4	0	1	0	0	0	1	0	4	0	2	3	1	4	3	3	1	4	3	rs201486601		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:1961100G>A	ENST00000217305.2	-	4	859	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	PDYN_ENST00000540134.1_Missense_Mutation_p.R212W|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R212W	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect; dbSNP:rs201486601). {ECO:0000269|PubMed:21035104}.		cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		16226	0		0	False		,,,				2504	0					uc010gaj.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(634-636)Cgg>Tgg		Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.							102	113	109					20																	1961100		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961100G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.634C>T	20.37:g.1961100G>A	ENSP00000217305:p.Arg212Trp					AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R212W|PDYN_uc021vzt.1_Missense_Mutation_p.R212W|PDYN_uc021vzu.1_Missense_Mutation_p.R212W|PDYN_uc002wfv.3_Missense_Mutation_p.R212W	p.R212W	NM_001190892	NP_077722	P01213	PDYN_HUMAN			2	876	-			212		R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).			A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.634C>T	CCDS13023.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.944983	0.73672	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.85556	-2.0;-2.0;-2.0	5.0	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	M	0.89601	3.045	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.91682	0.5359	10	0.59425	D	0.04	-24.1261	16.3704	0.83355	0.0:0.0:0.2532:0.7468	.	212	P01213	PDYN_HUMAN	W	212	ENSP00000440185:R212W;ENSP00000442259:R212W;ENSP00000217305:R212W	ENSP00000217305:R212W	R	-	1	2	PDYN	1909100	1.000000	0.71417	0.822000	0.32727	0.984000	0.73092	0.612000	0.24283	-0.750000	0.04740	0.313000	0.20887	CGG		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			A	1961100	G	A	1961100	3	1	25	1	0	0	0	0	1	0	0	0	11699	1086	38	1	134	1	PDYN	20	1961100	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		1961100	61064420	70	1634											
SPAG4	6676	broad.mit.edu	37	chr20	34206631	34206631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtccactgttcgggcaGccaacagcgaggtgagcccc	8	6	14	13	2	0	1	0	1	0	0	2	2	1	1	4	3	4	2	4	3	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:34206631G>A	ENST00000374273.3	+	7	818	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	236					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTTCGGGCAGCCAACAGCGA	0.642																																						uc002xdb.1																			0				NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21						c.(706-708)Gcc>Acc		Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.							11	14	13					20																	34206631		2200	4293	6493	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34206631G>A	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.706G>A	20.37:g.34206631G>A	ENSP00000363391:p.Ala236Thr					SPAG4_uc010zvi.1_Missense_Mutation_p.A159T	p.A236T	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		6	823	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		236					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.706G>A	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432418	0.43224	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.23754	2.16;1.89	4.97	3.04	0.35103	.	0.421373	0.23856	N	0.043897	T	0.20495	0.0493	L	0.45581	1.43	0.28207	N	0.927109	B;B	0.15930	0.001;0.015	B;B	0.12156	0.003;0.007	T	0.13202	-1.0518	10	0.40728	T	0.16	-24.2383	7.2942	0.26383	0.1927:0.0:0.8073:0.0	.	111;236	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	T	236;111	ENSP00000363391:A236T;ENSP00000396670:A111T	ENSP00000363391:A236T	A	+	1	0	SPAG4	33670045	0.970000	0.33590	0.661000	0.29709	0.809000	0.45718	1.577000	0.36515	0.704000	0.31869	0.462000	0.41574	GCC		0.642	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		A	34206631	G	A	34206631	3	1	25	1	0	0	0	0	1	0	0	0	14980	971	34	3	732	3	SPAG4	20	34206631	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	32245531	34206631	28818889	71	1635											
PCIF1	63935	broad.mit.edu	37	chr20	44571848	44571848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagtcgtgtcaccttcCatgtttcgtgaaatcatgaa	11	12	8	10	2	2	2	2	2	0	0	5	3	3	2	3	0	1	1	3	0	3	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:44571848C>T	ENST00000372409.3	+	8	1150	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	262					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGTCACCTTCCATGTTTCGTG	0.527																																						uc002xqs.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(784-786)tcC>tcT		Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.							115	93	100					20																	44571848		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44571848C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.786C>T	20.37:g.44571848C>T						PCIF1_uc002xqt.3_5'Flank	p.S262S	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			7	1100	+			262					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.786C>T	CCDS13388.1																																																																																				0.527	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		T	44571848	C	T	44571848	2	4	25	1	0	0	0	0	0	0	0	1	11580	581	21	3		3	PCIF1	20	44571848	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	10365217	44571848	18453672	72	1636											
RIPK4	54101	broad.mit.edu	37	chr21	43161994	43161994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcagcagccacttggcGcactcctcttgcccggcctc	5	9	10	17	2	1	1	0	1	1	0	3	1	2	1	4	2	4	3	4	2	0	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr21:43161994G>A	ENST00000352483.2	-	9	1567	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	RIPK4_ENST00000544709.1_Silent_p.C390C|RIPK4_ENST00000542057.1_Silent_p.C390C|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.C453C			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	501					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C453C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657																																						uc002yzn.1																			1	Substitution - coding silent(1)	p.C453C(2)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1357-1359)tgC>tgT		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							89	90	90					21																	43161994		2203	4299	6502	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161994G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1503C>T	21.37:g.43161994G>A							p.C453C	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1407	-			453					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1359C>T																																																																																					0.657	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43161994	G	A	43161994	2	1	25	1	0	0	0	0	0	0	0	1	13383	1079	38	1		1	RIPK4	21	43161994	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08		43161994	4967901	73	1637											
SLC5A4	6527	broad.mit.edu	37	chr22	32650199	32650199	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggttggtcttcagcatcGcctgagcagaagggaagaca	10	8	13	10	2	2	3	1	1	1	2	4	4	2	4	1	3	2	3	1	3	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:32650199G>A	ENST00000266086.4	-	2	148	c.137C>T	c.(136-138)gCg>gTg	p.A46V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	46			A -> T (in dbSNP:rs2235171).		carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCATCGCCTGAGCAGA	0.572																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e2-1		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.							80	70	73					22																	32650199		2203	4300	6503	SO:0001630	splice_region_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32650199G>A	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.136-1C>T	22.37:g.32650199G>A							p.A46_splice	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			2	138	-			46		A -> T (in dbSNP:rs2235171).			O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.136_splice	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461747	0.43736	.	.	ENSG00000100191	ENST00000266086	D	0.87571	-2.27	5.4	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	L	0.58354	1.805	0.58432	D	0.999996	B	0.32324	0.364	B	0.32090	0.14	D	0.83705	0.0184	10	0.54805	T	0.06	.	11.14	0.48398	0.0891:0.0:0.9109:0.0	.	46	Q9NY91	SC5A4_HUMAN	V	46	ENSP00000266086:A46V	ENSP00000266086:A46V	A	-	2	0	SLC5A4	30980199	1.000000	0.71417	0.841000	0.33234	0.221000	0.24807	5.831000	0.69330	2.550000	0.86006	0.655000	0.94253	GCG		0.572	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	Missense_Mutation	A	32650199	G	A	32650199	5	1	25	1	0	0	0	0	0	0	1	0	14667	1101	38	1	1898	1	SLC5A4	22	32650199	Splice_Site	SNP	G	TCGA-06-0154-01A-03D-1491-08		32650199	18654367	74	1638											
ISX	91464	broad.mit.edu	37	chr22	35480407	35480407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagcgagccaagtggcGgaagcaggagaagattggca	14	4	16	7	2	1	2	1	0	0	2	1	6	1	3	1	4	3	2	1	4	4	1	rs184840753	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:35480407G>A	ENST00000308700.6	+	3	1365	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	ISX_ENST00000404699.2_Missense_Mutation_p.R138Q	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	138					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCAAGTGGCGGAAGCAGGAG	0.537													G|||	2	0.000399361	0	0.0014	5008	,	,		18750	0.001		0	False		,,,				2504	0					uc003anj.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(412-414)cGg>cAg		Homo sapiens intestine-specific homeobox (ISX), mRNA.		G	GLN/ARG	0,4406		0,0,2203	57	53	54		413	5.5	1	22		54	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ISX	NM_001008494.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	138/246	35480407	1,13005	2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35480407G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.413G>A	22.37:g.35480407G>A	ENSP00000311492:p.Arg138Gln						p.R138Q	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1364	+			138					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.413G>A	CCDS33640.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.730203	0.96856	0.0	1.16E-4	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.97553	-4.43;-4.43	5.52	5.52	0.82312	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.138601	0.31673	N	0.007252	D	0.99165	0.9711	H	0.98487	4.245	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98931	1.0787	10	0.87932	D	0	.	17.2978	0.87173	0.0:0.0:1.0:0.0	.	138	Q2M1V0	ISX_HUMAN	Q	138	ENSP00000311492:R138Q;ENSP00000386037:R138Q	ENSP00000311492:R138Q	R	+	2	0	ISX	33810407	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.294000	0.96088	2.757000	0.94681	0.655000	0.94253	CGG		0.537	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		A	35480407	G	A	35480407	3	1	25	1	0	0	0	0	1	0	0	0	7865	1116	39	2	423	2	ISX	22	35480407	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	2830208	35480407	15824159	75	1639											
SGSM3	27352	broad.mit.edu	37	chr22	40803235	40803235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggaggcactcaaggccaAgaacatcaagcagacggaac	15	3	11	12	1	2	2	2	0	0	2	2	4	2	4	2	4	3	2	2	4	5	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:40803235A>G	ENST00000248929.9	+	12	1460	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	SGSM3_ENST00000454798.2_Missense_Mutation_p.K357R	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCAAGGCCAAGAACATCAAG	0.627																																						uc003ayu.1																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1270-1272)aAg>aGg		Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.							58	58	58					22																	40803235		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803235A>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1271A>G	22.37:g.40803235A>G	ENSP00000248929:p.Lys424Arg					SGSM3_uc011aos.1_Missense_Mutation_p.K357R|SGSM3_uc011aot.1_Missense_Mutation_p.K361R	p.K424R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			11	1480	+			424						Missense_Mutation	SNP	ENST00000248929.9	37	c.1271A>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.017375	0.93404	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.18338	2.32;2.22	5.35	5.35	0.76521	.	0.047563	0.85682	D	0.000000	T	0.43211	0.1237	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.992;0.999;0.999	T	0.40590	-0.9555	10	0.66056	D	0.02	.	15.3324	0.74223	1.0:0.0:0.0:0.0	.	361;357;424;424	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	R	424;357	ENSP00000248929:K424R;ENSP00000390998:K357R	ENSP00000248929:K424R	K	+	2	0	SGSM3	39133181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.947000	0.93000	2.029000	0.59856	0.379000	0.24179	AAG		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		G	40803235	A	G	40803235	3	3	25	1	0	0	0	0	1	0	0	0	14224	72	3	4	1313	4	SGSM3	22	40803235	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08	5322828	40803235	10501331	76	1640											
ELF4	2000	broad.mit.edu	37	chrX	129200915	129200915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctggttgcccagaaggctCggattgtgggaacccctgga	7	9	15	10	1	1	1	0	0	1	1	2	4	1	4	3	5	2	2	3	5	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chrX:129200915C>T	ENST00000308167.5	-	9	2152	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	ELF4_ENST00000335997.7_Silent_p.P591P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGAAGGCTCGGATTGTGGG	0.607			T	ERG	AML																																	uc004evd.4				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1771-1773)ccG>ccA		Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.							96	101	99					X																	129200915		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129200915C>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1773G>A	X.37:g.129200915C>T						ELF4_uc004eve.4_Silent_p.P591P	p.P591P	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	2158	-			591						Silent	SNP	ENST00000308167.5	37	c.1773G>A	CCDS14617.1																																																																																				0.607	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		T	129200915	C	T	129200915	2	4	25	1	0	0	0	0	0	0	0	1	5056	871	31	2		2	ELF4	23	129200915	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08		129200915	26069645	77	1641											
CLCNKB	1188	broad.mit.edu	37	chr1	16378751	16378751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacggcgctgctggccttCgaggtgaccggccagatagt	6	8	14	13	4	0	2	0	1	0	1	2	3	1	2	4	4	1	2	4	4	1	2	rs535003549	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:16378751C>T	ENST00000375679.4	+	15	1578	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	CLCNKB_ENST00000375667.3_Silent_p.F320F	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	489					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGGCCTTCGAGGTGACCG	0.657													C|||	2	0.000399361	8e-04	0	5008	,	,		20617	0		0.001	False		,,,				2504	0					uc001axx.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1465-1467)ttC>ttT		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)						63	60	62					1																	16378751		2203	4300	6503	SO:0001819	synonymous_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16378751C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1467C>T	1.37:g.16378751C>T						CLCNKA_uc021ogl.1_Silent_p.F136F|CLCNKA_uc021ogm.1_Silent_p.F320F|CLCNKA_uc001axy.4_Silent_p.F320F	p.F489F	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1603	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	489					B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1467C>T	CCDS168.1																																																																																				0.657	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		T	16378751	C	T	16378751	2	4	26	1	0	0	0	0	0	0	0	1	3470	883	31	2		2	CLCNKB	1	16378751	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		16378751	232871870	1	1642											
KLF17	128209	broad.mit.edu	37	chr1	44595217	44595217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggccacagttcagtatgCcactgcctgagcgtggtatg	7	9	15	10	1	1	1	1	1	0	0	1	1	1	1	3	3	3	3	3	3	2	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:44595217C>T	ENST00000372299.3	+	2	332	c.274C>T	c.(274-276)Cca>Tca	p.P92S	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	92					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTTCAGTATGCCACTGCCTGA	0.567																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(274-276)Cca>Tca		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							90	88	89					1																	44595217		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595217C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.274C>T	1.37:g.44595217C>T	ENSP00000361373:p.Pro92Ser					KLF17_uc009vxf.1_Missense_Mutation_p.P55S	p.P92S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			1	332	+	Acute lymphoblastic leukemia(166;0.155)		92					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.274C>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.431510	0.01108	.	.	ENSG00000171872	ENST00000372299	T	0.05717	3.4	3.96	-1.89	0.07689	.	1.220280	0.06001	N	0.647745	T	0.02012	0.0063	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44787	-0.9305	10	0.12103	T	0.63	.	1.1851	0.01854	0.1711:0.1255:0.3514:0.3521	.	92	Q5JT82	KLF17_HUMAN	S	92	ENSP00000361373:P92S	ENSP00000361373:P92S	P	+	1	0	KLF17	44367804	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.102000	0.03332	-0.338000	0.08413	-0.894000	0.02916	CCA		0.567	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		T	44595217	C	T	44595217	3	4	26	1	0	0	0	0	1	0	0	0	8345	739	26	3	280	3	KLF17	1	44595217	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	28216466	44595217	204655404	2	1643											
TESK2	10420	broad.mit.edu	37	chr1	45923297	45923297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaatcatccaaacgcGtcagtctggaaaaggcactt	14	8	10	9	2	3	1	2	1	1	0	4	2	4	2	1	3	1	1	1	3	4	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:45923297G>A	ENST00000372086.3	-	2	561	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TESK2_ENST00000372084.1_Missense_Mutation_p.T54M|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Missense_Mutation_p.T54M|TESK2_ENST00000451835.2_Missense_Mutation_p.T54M|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	54					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATCCAAACGCGTCAGTCTGGA	0.453																																						uc001cns.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(160-162)aCg>aTg		Homo sapiens testis-specific kinase 2 (TESK2), mRNA.							125	122	123					1																	45923297		1903	4112	6015	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45923297G>A	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.161C>T	1.37:g.45923297G>A	ENSP00000361158:p.Thr54Met					TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.T54M	p.T54M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			1	564	-	Acute lymphoblastic leukemia(166;0.155)		54					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.161C>T	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770357	0.49680	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	D;T;D;T	0.89270	-2.49;-0.74;-2.49;3.28	5.06	5.06	0.68205	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	D	0.84633	0.5515	N	0.20986	0.625	0.54753	D	0.999981	P;P;P	0.50819	0.507;0.939;0.899	B;P;B	0.45232	0.071;0.474;0.372	D	0.84785	0.0775	10	0.34782	T	0.22	-7.3995	18.4182	0.90577	0.0:0.0:1.0:0.0	.	54;54;54	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	M	54	ENSP00000361156:T54M;ENSP00000361158:T54M;ENSP00000343940:T54M;ENSP00000397244:T54M	ENSP00000343940:T54M	T	-	2	0	TESK2	45695884	1.000000	0.71417	0.954000	0.39281	0.984000	0.73092	9.444000	0.97578	2.365000	0.80145	0.585000	0.79938	ACG		0.453	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		A	45923297	G	A	45923297	3	1	26	1	0	0	0	0	1	0	0	0	15765	1145	40	1	1594	1	TESK2	1	45923297	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	1328080	45923297	203327324	3	1644											
AP4B1	10717	broad.mit.edu	37	chr1	114438528	114438528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcacaggtctttctgccGgatcctccaaaagtccaaga	11	11	7	12	1	3	1	1	0	2	1	6	2	6	2	4	2	1	0	4	2	4	3	rs149723440		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:114438528G>A	ENST00000369569.1	-	9	1923	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.P548L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.P380L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	548					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTCTGCCGGATCCTCCAA	0.498																																						uc001eeb.3																			0		p.P548P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1642-1644)cCg>cTg		Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	83	82	82		1643	4.8	1	1	dbSNP_134	82	0,8600		0,0,4300	no	missense	AP4B1	NM_006594.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	548/740	114438528	1,13005	2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438528G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1643C>T	1.37:g.114438528G>A	ENSP00000358582:p.Pro548Leu					LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.P380L|AP4B1_uc010owp.2_Missense_Mutation_p.P449L|AP4B1_uc001eed.3_Missense_Mutation_p.P548L|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.P75L	p.P548L	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1829	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	548					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1643C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041241	0.35989	2.27E-4	0.0	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.11821	2.74;2.74;2.74	5.86	4.76	0.60689	Armadillo-type fold (1);	0.276251	0.42548	D	0.000696	T	0.01870	0.0059	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34378	-0.9831	10	0.02654	T	1	.	12.9006	0.58123	0.0:0.0:0.1511:0.8488	.	548;380;548	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	L	380;548;548	ENSP00000358580:P380L;ENSP00000358582:P548L;ENSP00000256658:P548L	ENSP00000256658:P548L	P	-	2	0	AP4B1	114240051	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.750000	0.47500	1.090000	0.41315	0.563000	0.77884	CCG		0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		A	114438528	G	A	114438528	3	1	26	1	0	0	0	0	1	0	0	0	751	1116	39	2	584	2	AP4B1	1	114438528	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	68515231	114438528	134812093	4	1645											
SPTA1	6708	broad.mit.edu	37	chr1	158653172	158653172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacatataccttcgtttcttCgtgggcagaatgacccatgg	9	13	9	10	2	1	2	0	1	1	1	3	2	1	2	2	2	2	2	2	2	4	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:158653172C>G	ENST00000368147.4	-	3	559	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	127				Missing (in Ref. 3; AAA60575). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCGTTTCTTCGTGGGCAGAA	0.388																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(379-381)Gaa>Caa		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							207	183	190					1																	158653172		1835	4092	5927	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158653172C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.379G>C	1.37:g.158653172C>G	ENSP00000357129:p.Glu127Gln						p.E127Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			2	578	-	all_hematologic(112;0.0378)		127	Missing (in Ref. 3; AAA60575).				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.379G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945634	0.53079	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	6.17	5.27	0.74061	.	0.254426	0.20534	N	0.090457	T	0.54255	0.1847	M	0.65975	2.015	0.54753	D	0.999982	P	0.41366	0.747	P	0.57425	0.82	T	0.55648	-0.8108	10	0.45353	T	0.12	.	14.3174	0.66460	0.0:0.9289:0.0:0.0711	.	127	P02549	SPTA1_HUMAN	Q	127	ENSP00000357130:E127Q;ENSP00000357129:E127Q	ENSP00000357129:E127Q	E	-	1	0	SPTA1	156919796	1.000000	0.71417	0.974000	0.42286	0.009000	0.06853	4.823000	0.62694	1.632000	0.50472	0.655000	0.94253	GAA		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158653172	C	G	158653172	3	3	26	1	0	0	0	0	1	0	0	0	15115	893	31	5	7080	5	SPTA1	1	158653172	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	44214644	158653172	90597449	5	1646											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834371	178834371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaagatcagtcaaggAagcgtatttcacctctagtt	13	12	8	8	1	4	2	3	1	1	1	4	3	4	3	1	1	1	2	1	1	5	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:178834371A>G	ENST00000234816.2	-	3	988	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S181P|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	181					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCAGTCAAGGAAGCGTATTTC	0.423																																						uc001gma.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(541-543)Tcc>Ccc		Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.							107	94	99					1																	178834371		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834371A>G	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.541T>C	1.37:g.178834371A>G	ENSP00000234816:p.Ser181Pro					RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	p.S181P	NM_004673	NP_004664	O95841	ANGL1_HUMAN			2	1017	-			181					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.541T>C	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386917	0.25031	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.55234	0.53;0.53	5.32	4.15	0.48705	.	0.399938	0.28683	N	0.014485	T	0.41604	0.1166	L	0.36672	1.1	0.28578	N	0.910262	B	0.31435	0.323	B	0.30943	0.122	T	0.30238	-0.9985	10	0.33141	T	0.24	.	11.8306	0.52293	0.6578:0.3421:0.0:0.0	.	181	O95841	ANGL1_HUMAN	P	181;181;145	ENSP00000234816:S181P;ENSP00000356601:S181P	ENSP00000234816:S181P	S	-	1	0	ANGPTL1	177100994	0.835000	0.29415	0.778000	0.31720	0.996000	0.88848	1.509000	0.35780	0.908000	0.36671	0.528000	0.53228	TCC		0.423	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		G	178834371	A	G	178834371	3	3	26	1	0	0	0	0	1	0	0	0	613	246	9	4	950	4	ANGPTL1	1	178834371	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	20181199	178834371	70416250	6	1647											
OBSCN	84033	broad.mit.edu	37	chr1	228431145	228431145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagagggtctccttccGcctgcacatcacaggtgggt	6	8	14	13	1	2	1	1	0	1	1	4	1	3	1	4	4	1	1	4	4	0	1	rs553600555		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228431145G>T	ENST00000422127.1	+	10	3235	c.3191G>T	c.(3190-3192)cGc>cTc	p.R1064L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1156L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1064L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1064	Ig-like 10.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCTCCTTCCGCCTGCACATC	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		19073	0		0	False		,,,				2504	0					uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3190-3192)cGc>cTc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							30	33	32					1																	228431145		2036	4173	6209	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228431145G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3191G>T	1.37:g.228431145G>T	ENSP00000409493:p.Arg1064Leu					OBSCN_uc001hsn.3_Missense_Mutation_p.R1064L	p.R1064L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			9	3235	+		Prostate(94;0.0405)	1064			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3191G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	1.647	-0.514968	0.04200	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04406	3.63;3.63	5.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.569810	0.04348	U	0.355173	T	0.11879	0.0289	L	0.60455	1.87	0.22571	N	0.998976	P;D	0.60160	0.526;0.987	B;P	0.49683	0.179;0.619	T	0.44345	-0.9334	10	0.39692	T	0.17	.	17.8823	0.88844	0.2306:0.0:0.7694:0.0	.	1064;1064	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1064	ENSP00000284548:R1064L;ENSP00000409493:R1064L	ENSP00000284548:R1064L	R	+	2	0	OBSCN	226497768	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.770000	0.04705	-1.359000	0.02174	-1.641000	0.00772	CGC		0.552	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228431145	G	T	228431145	3	4	26	1	0	0	0	0	1	0	0	0	10812	1087	38	5	3225	5	OBSCN	1	228431145	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	49596774	228431145	20819476	7	1648											
OBSCN	84033	broad.mit.edu	37	chr1	228557713	228557713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtcctggaggggcgcGtgtcatggagcagccccatg	7	7	16	11	3	1	1	1	1	0	0	2	3	2	3	3	4	3	1	3	4	1	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228557713G>A	ENST00000422127.1	+	91	20082	c.20038G>A	c.(20038-20040)Gtg>Atg	p.V6680M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V4314M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V7637M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6680	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGGGCGCGTGTCATGGAG	0.642																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(20038-20040)Gtg>Atg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							65	67	66					1																	228557713		1991	4151	6142	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557713G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20038G>A	1.37:g.228557713G>A	ENSP00000409493:p.Val6680Met					OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	p.V6680M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			90	20082	+		Prostate(94;0.0405)	6680			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20038G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.808300|1.808300	0.31961|0.31961	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	T|T;T	0.66099|0.40476	-0.19|1.03;1.03	4.72|4.72	1.55|1.55	0.23275|0.23275	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	T|T	0.42832|0.42832	0.1220|0.1220	L|L	0.43598|0.43598	1.365|1.365	0.44006|0.44006	D|D	0.996716|0.996716	.|D	.|0.64830	.|0.994	.|P	.|0.56514	.|0.8	T|T	0.31364|0.31364	-0.9946|-0.9946	7|9	0.45353|0.51188	T|T	0.12|0.08	.|.	4.6895|4.6895	0.12774|0.12774	0.2877:0.1776:0.5347:0.0|0.2877:0.1776:0.5347:0.0	.|.	.|6680	.|Q5VST9	.|OBSCN_HUMAN	H|M	1296|6680;4314	ENSP00000388554:R1296H|ENSP00000409493:V6680M;ENSP00000355668:V4314M	ENSP00000388554:R1296H|ENSP00000355668:V4314M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226624336|226624336	0.004000|0.004000	0.15560|0.15560	0.991000|0.991000	0.47740|0.47740	0.096000|0.096000	0.18686|0.18686	0.254000|0.254000	0.18314|0.18314	0.591000|0.591000	0.29711|0.29711	0.455000|0.455000	0.32223|0.32223	CGT|GTG		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228557713	G	A	228557713	3	1	26	1	0	0	0	0	1	0	0	0	10812	1145	40	1	21606	1	OBSCN	1	228557713	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	126568	228557713	20692908	8	1649											
CHRM3	1131	broad.mit.edu	37	chr1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggcccagaccctcagtgCgatcttgcttgccttcatca	7	10	9	15	2	4	1	3	0	1	1	4	2	4	1	3	1	4	1	3	1	0	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:240072235C>T	ENST00000255380.4	+	5	2263	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	495					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCTCAGTGCGATCTTGCTT	0.493																																						uc021plc.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1483-1485)gCg>gTg		Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						150	138	142					1																	240072235		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072235C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1484C>T	1.37:g.240072235C>T	ENSP00000255380:p.Ala495Val					CHRM3_uc001hyp.3_Missense_Mutation_p.A495V	p.A495V	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		0	1484	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	495					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1484C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659170	0.88154	.	.	ENSG00000133019	ENST00000255380	T	0.33654	1.4	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70626	-0.4820	10	0.72032	D	0.01	-18.2966	20.1653	0.98150	0.0:1.0:0.0:0.0	.	495	P20309	ACM3_HUMAN	V	495	ENSP00000255380:A495V	ENSP00000255380:A495V	A	+	2	0	CHRM3	238138858	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GCG		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		T	240072235	C	T	240072235	3	4	26	1	0	0	0	0	1	0	0	0	3378	768	27	1	1486	1	CHRM3	1	240072235	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	11514522	240072235	9178386	9	1650											
HNRNPU	3192	broad.mit.edu	37	chr1	245022048	245022050	+	In_Frame_Del	DEL	CAT	CAT	-																															tacagcaaaacatgtaatcaCatcattttcatcaaactttt																										TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:245022048_245022050delCAT	ENST00000283179.9	-	6	1374_1376	c.1211_1213delATG	c.(1210-1215)gatgtg>gtg	p.D404del	HNRNPU_ENST00000444376.2_In_Frame_Del_p.D385del			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	404	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATGTAATCACATCATTTTCATC	0.31																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1210-1215)gatgtg>gtg		Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245022048_245022050delCAT	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1211_1213delATG	1.37:g.245022051_245022053delCAT	ENSP00000283179:p.Asp404del					HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del	p.D404del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		5	1429_1431	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		404			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	c.1211_1213delATG	CCDS41479.1																																																																																				0.31	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		-	245022050	CAT	-	245022048	7	5	26	1	0	1	0	1	0	0	0	0	7273	478	17	0	1300	0	HNRNPU	1	245022048	In_Frame_Del	DEL	CAT	TCGA-06-0155-01B-01D-1492-08	4949813	245022048	4228573	10	1651											
CAPN13	92291	broad.mit.edu	37	chr2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatggtgaagttgcggCggaatttattatttgagctt	10	15	12	4	2	1	2	1	2	0	0	1	3	1	3	0	3	2	2	0	3	5	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:30966369C>T	ENST00000295055.8	-	13	1501	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	442					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463																																						uc021vfn.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1324-1326)cGc>cAc		Homo sapiens calpain 13 (CAPN13), mRNA.							211	202	205					2																	30966369		1866	4108	5974	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966369C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1325G>A	2.37:g.30966369C>T	ENSP00000295055:p.Arg442His					CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	p.R442H	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			11	1357	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		442					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1325G>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687947	0.29962	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	5.52	-1.17	0.09648	Peptidase C2, calpain, large subunit, domain III (2);	1.383140	0.04630	N	0.403459	T	0.68495	0.3007	N	0.03608	-0.345	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.58183	-0.7681	10	0.44086	T	0.13	.	1.6142	0.02700	0.1257:0.2197:0.1441:0.5105	.	442	Q6MZZ7	CAN13_HUMAN	H	442	ENSP00000295055:R442H;ENSP00000431298:R442H	ENSP00000295055:R442H	R	-	2	0	CAPN13	30819873	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.189000	0.09629	0.067000	0.16545	-0.459000	0.05422	CGC		0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		T	30966369	C	T	30966369	3	4	26	1	0	0	0	0	1	0	0	0	2626	768	27	1	724	1	CAPN13	2	30966369	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		30966369	212233004	11	1652											
LHCGR	3973	broad.mit.edu	37	chr2	48915170	48915170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgaaggcagctgagatgGcaaaaaaagagataggtgcc	15	7	13	6	0	0	3	0	2	0	2	0	5	0	3	1	3	2	3	1	3	5	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:48915170G>A	ENST00000294954.7	-	11	1787	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.A562V|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.A527V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	589					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTGAGATGGCAAAAAAAGA	0.383																																						uc002rwu.4																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1765-1767)gCc>gTc		Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						100	101	101					2																	48915170		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915170G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1766C>T	2.37:g.48915170G>A	ENSP00000294954:p.Ala589Val					STON1-GTF2A1L_uc021vhf.1_Intron	p.A589V	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1836	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	589					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1766C>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550145	0.86127	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.37584	1.19;1.19;1.19	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70930	-0.4738	9	.	.	.	.	18.7926	0.91980	0.0:0.0:1.0:0.0	.	589	P22888	LSHR_HUMAN	V	527;589;562	ENSP00000344301:A527V;ENSP00000294954:A589V;ENSP00000386033:A562V	.	A	-	2	0	LHCGR	48768674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.694000	0.91930	0.585000	0.79938	GCC		0.383	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		A	48915170	G	A	48915170	3	1	26	1	0	0	0	0	1	0	0	0	8762	1203	42	3	337	3	LHCGR	2	48915170	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	17948801	48915170	194284203	12	1653											
DYSF	8291	broad.mit.edu	37	chr2	71871111	71871111	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggaagagttcatcgAttggtggagcaaattctttg	11	12	13	5	1	3	1	2	0	1	1	4	5	3	4	0	4	1	2	0	4	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:71871111A>C	ENST00000258104.3	+	41	4704	c.4427A>C	c.(4426-4428)gAt>gCt	p.D1476A	DYSF_ENST00000409762.1_Missense_Mutation_p.D1493A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.D1477A|DYSF_ENST00000410020.3_Missense_Mutation_p.D1515A|DYSF_ENST00000413539.2_Missense_Mutation_p.D1507A|DYSF_ENST00000409582.3_Missense_Mutation_p.D1514A|DYSF_ENST00000409366.1_Missense_Mutation_p.D1498A|DYSF_ENST00000409744.1_Missense_Mutation_p.D1484A|DYSF_ENST00000409651.1_Missense_Mutation_p.D1508A|DYSF_ENST00000429174.2_Missense_Mutation_p.D1497A|DYSF_ENST00000410041.1_Missense_Mutation_p.D1494A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1476					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGTTCATCGATTGGTGGAGC	0.502																																						uc010fen.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4543-4545)gAt>gCt		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							91	78	82					2																	71871111		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71871111A>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4427A>C	2.37:g.71871111A>C	ENSP00000258104:p.Asp1476Ala					DYSF_uc010fei.3_Missense_Mutation_p.D1493A|DYSF_uc010feh.3_Missense_Mutation_p.D1483A|DYSF_uc002sig.4_Missense_Mutation_p.D1462A|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1507A|DYSF_uc010fee.3_Missense_Mutation_p.D1497A|DYSF_uc010fef.3_Missense_Mutation_p.D1514A|DYSF_uc002sie.3_Missense_Mutation_p.D1476A|DYSF_uc010feo.3_Missense_Mutation_p.D1508A|DYSF_uc010fej.3_Missense_Mutation_p.D1484A|DYSF_uc010fel.3_Missense_Mutation_p.D1463A|DYSF_uc010fem.3_Missense_Mutation_p.D1498A|DYSF_uc002sif.3_Missense_Mutation_p.D1477A|DYSF_uc010fek.3_Missense_Mutation_p.D1494A|DYSF_uc010yqy.2_Missense_Mutation_p.D357A|DYSF_uc010yqz.2_Missense_Mutation_p.D237A	p.D1515A	NM_001130987	NP_001124459	O75923	DYSF_HUMAN			41	4685	+			1476					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4544A>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756666	0.89843	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.92149	-2.61;-2.61;-2.98;-2.96;-2.6;-2.6;-2.6;-2.95;-2.96;-2.97;-2.6	6.06	6.06	0.98353	.	0.046514	0.85682	D	0.000000	D	0.96543	0.8872	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;1.0;0.997;0.999;0.999;0.999	D	0.97121	0.9811	10	0.87932	D	0	-22.2717	14.5614	0.68140	1.0:0.0:0.0:0.0	.	240;1508;1515;1498;1463;1494;1484;1493;1483;1507;1514;1497;1462;1477;1476	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	1507;1493;1514;1497;1476;1508;1477;1484;1498;1515;1494	ENSP00000407046:D1507A;ENSP00000387137:D1493A;ENSP00000386547:D1514A;ENSP00000398305:D1497A;ENSP00000258104:D1476A;ENSP00000386683:D1508A;ENSP00000377678:D1477A;ENSP00000386285:D1484A;ENSP00000386512:D1498A;ENSP00000386881:D1515A;ENSP00000386617:D1494A	ENSP00000258104:D1476A	D	+	2	0	DYSF	71724619	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	8.046000	0.89438	2.324000	0.78689	0.533000	0.62120	GAT		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		C	71871111	A	C	71871111	3	2	26	1	0	0	0	0	1	0	0	0	4859	333	12	5	4848	5	DYSF	2	71871111	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	22955941	71871111	171328262	13	1654											
SCN9A	6335	broad.mit.edu	37	chr2	167085353	167085353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtgacccatctgtggtgtTaatacactcatagaacttgc	10	12	8	11	1	2	2	1	1	1	1	2	2	2	2	2	1	3	1	2	1	4	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:167085353T>A	ENST00000409435.1	-	21	4053	c.4054A>T	c.(4054-4056)Aac>Tac	p.N1352Y	SCN9A_ENST00000409672.1_Missense_Mutation_p.N1341Y|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N1353Y|SCN9A_ENST00000375387.4_Missense_Mutation_p.N1353Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1352					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTGGTGTTAATACACTCA	0.403																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4021-4023)Aac>Tac		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						199	205	203					2																	167085353		2105	4269	6374	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085353T>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4054A>T	2.37:g.167085353T>A	ENSP00000386330:p.Asn1352Tyr					BC051759_uc002udp.3_Intron	p.N1341Y	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			21	4362	-			1352					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4021A>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372836	0.82573	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000005	D	0.98994	0.9657	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99758	1.1020	10	0.87932	D	0	.	15.2359	0.73430	0.0:0.0:0.0:1.0	.	1341	E7EUN6	.	Y	1341;1353;1353;1352	ENSP00000386306:N1341Y;ENSP00000364536:N1353Y;ENSP00000304748:N1353Y;ENSP00000386330:N1352Y	ENSP00000304748:N1353Y	N	-	1	0	SCN9A	166793599	1.000000	0.71417	0.915000	0.36163	0.806000	0.45545	6.259000	0.72494	2.013000	0.59113	0.455000	0.32223	AAC		0.403	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167085353	T	A	167085353	3	1	26	1	0	0	0	0	1	0	0	0	13925	1754	61	5	1936	5	SCN9A	2	167085353	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	95214242	167085353	76114020	14	1655											
TTN	7273	broad.mit.edu	37	chr2	179437058	179437058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagcaggcagcccaaTgccatattcattttctgcga	9	12	9	11	1	3	0	2	0	1	0	3	1	3	0	2	2	4	3	2	2	2	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:179437058T>C	ENST00000591111.1	-	276	69102	c.68878A>G	c.(68878-68880)Att>Gtt	p.I22960V	TTN_ENST00000589042.1_Missense_Mutation_p.I24601V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22033V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15661V|TTN_ENST00000460472.2_Missense_Mutation_p.I15536V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15728V			Q8WZ42	TITIN_HUMAN	titin	22960	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAGCCCAATGCCATATTCA	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66097-66099)Att>Gtt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							80	75	76					2																	179437058		1909	4129	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437058T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68878A>G	2.37:g.179437058T>C	ENSP00000465570:p.Ile22960Val					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I15728V|TTN_uc021vta.1_Missense_Mutation_p.I15661V|TTN_uc021vtb.1_Missense_Mutation_p.I15536V	p.I22033V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	66322	-			22960			Ig-like 115.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66097A>G		.	.	.	.	.	.	.	.	.	.	T	9.536	1.112208	0.20795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.07	2.34	0.29019	Fibronectin, type III (5);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33206	0.0855	N	0.11892	0.195	0.46222	D	0.998937	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.08889	-1.0700	9	0.87932	D	0	.	9.9639	0.41712	0.0:0.1897:0.0:0.8103	.	15536;15661;15728;22960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22033;15536;15728;15661;15534	ENSP00000343764:I22033V;ENSP00000434586:I15536V;ENSP00000340554:I15728V;ENSP00000352154:I15661V	ENSP00000340554:I15728V	I	-	1	0	TTN	179145304	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	1.703000	0.37846	0.164000	0.19529	0.528000	0.53228	ATT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179437058	T	C	179437058	3	2	26	1	0	0	0	0	1	0	0	0	16732	1464	51	4	34326	4	TTN	2	179437058	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	12351705	179437058	63762315	15	1656											
CDHR4	389118	broad.mit.edu	37	chr3	49836331	49836331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtgactgtctctggCacctgaatcatttccccagc	7	11	9	14	0	2	2	1	2	1	0	4	2	3	2	4	2	1	1	4	2	1	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:49836331C>T	ENST00000412678.2	-	4	431	c.423G>A	c.(421-423)gtG>gtA	p.V141V	CDHR4_ENST00000487256.1_Silent_p.V141V|CDHR4_ENST00000343366.4_Missense_Mutation_p.A167T	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	141					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTGTCTCTGGCACCTGAATCA	0.652																																						uc010hkz.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						c.(421-423)gtG>gtA		Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.							33	38	36					3																	49836331		2026	4185	6211	SO:0001819	synonymous_variant	389118				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr3:49836331C>T		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.423G>A	3.37:g.49836331C>T						CDHR4_uc003cxp.2_Missense_Mutation_p.A167T|CDHR4_uc011bcw.2_Silent_p.V141V	p.V141V	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN			3	432	-			141					Q6UXT0	Silent	SNP	ENST00000412678.2	37	c.423G>A	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133582	0.37630	.	.	ENSG00000187492	ENST00000343366	T	0.49720	0.77	5.11	-0.378	0.12497	.	1.909130	0.02832	N	0.126915	T	0.51381	0.1671	.	.	.	0.32201	N	0.577767	P	0.47302	0.893	P	0.47981	0.563	T	0.52823	-0.8524	9	0.87932	D	0	-9.5868	8.7514	0.34618	0.4123:0.3401:0.2475:0.0	.	167	A6H8M9-2	.	T	167	ENSP00000341302:A167T	ENSP00000341302:A167T	A	-	1	0	CDHR4	49811335	0.105000	0.21958	0.388000	0.26195	0.829000	0.46940	-0.126000	0.10563	-0.084000	0.12595	-0.196000	0.12772	GCC		0.652	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540		T	49836331	C	T	49836331	2	4	26	1	0	0	0	0	0	0	0	1	3121	697	25	3		3	CDHR4	3	49836331	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		49836331	148186099	16	1657											
STAB1	23166	broad.mit.edu	37	chr3	52554842	52554842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgaggcctgctggcGcttctacccgaagttctgga	6	9	12	14	2	2	1	0	1	2	0	2	3	2	2	3	3	3	3	3	3	2	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:52554842G>A	ENST00000321725.6	+	55	5805	c.5729G>A	c.(5728-5730)cGc>cAc	p.R1910H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1910					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCTGCTGGCGCTTCTACCCG	0.662																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5728-5730)cGc>cAc		Homo sapiens stabilin 1 (STAB1), mRNA.							126	149	141					3																	52554842		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554842G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5729G>A	3.37:g.52554842G>A	ENSP00000312946:p.Arg1910His					STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	p.R1910H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	54	5803	+			1910					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5729G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219686	0.22373	.	.	ENSG00000010327	ENST00000321725	D	0.85484	-1.99	5.49	2.16	0.27623	.	0.860267	0.10448	N	0.673413	T	0.68723	0.3032	N	0.17474	0.49	0.24957	N	0.991752	B	0.06786	0.001	B	0.01281	0.0	T	0.52749	-0.8534	10	0.14656	T	0.56	.	3.6654	0.08254	0.4212:0.1887:0.3901:0.0	.	1910	Q9NY15	STAB1_HUMAN	H	1910	ENSP00000312946:R1910H	ENSP00000312946:R1910H	R	+	2	0	STAB1	52529882	0.029000	0.19370	0.877000	0.34402	0.438000	0.31896	0.545000	0.23268	0.720000	0.32209	-0.137000	0.14449	CGC		0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52554842	G	A	52554842	3	1	26	1	0	0	0	0	1	0	0	0	15236	1087	38	1	5947	1	STAB1	3	52554842	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	2718511	52554842	145467588	17	1658											
PROS1	5627	broad.mit.edu	37	chr3	93603713	93603713	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcaaattccagcttcGtatacatccatctagacgag	12	12	5	12	2	3	1	2	0	1	1	6	2	5	1	2	0	2	2	2	0	4	6	rs5017717		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:93603713G>A	ENST00000394236.3	-	12	1667	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.R320*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	451	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCCAGCTTCGTATACATCCA	0.358																																						uc003drb.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CM951056	PROS1	M	rs5017717	c.(1351-1353)Cga>Tga		Homo sapiens protein S (alpha) (PROS1), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						57	52	54					3																	93603713		2203	4300	6503	SO:0001587	stop_gained	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603713G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1351C>T	3.37:g.93603713G>A	ENSP00000377783:p.Arg451*					PROS1_uc010hoo.3_Nonsense_Mutation_p.R320*|PROS1_uc003dqz.4_Nonsense_Mutation_p.R320*	p.R451*	NM_000313	NP_000304	P07225	PROS_HUMAN			11	1692	-			451			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	c.1351C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	39	7.374266	0.98245	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	3.78	1.8	0.24995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6008	0.51001	0.0:0.0:0.6784:0.3216	rs5017717;rs5017717	.	.	.	X	451;320	.	ENSP00000377783:R451X	R	-	1	2	PROS1	95086403	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.357000	0.59436	0.781000	0.33589	-0.314000	0.08810	CGA		0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		A	93603713	G	A	93603713	4	1	26	1	0	0	0	0	0	1	0	0	12558	1153	40	1	695	1	PROS1	3	93603713	Nonsense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	41048871	93603713	104418717	18	1659											
ZIC1	7545	broad.mit.edu	37	chr3	147130368	147130368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgctaacagcagcgaccGcaagaagcacatgcacgtgc	12	5	10	14	4	0	1	0	0	0	1	1	2	0	1	1	0	6	5	1	0	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:147130368G>A	ENST00000282928.4	+	2	1775	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	349					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCAGCGACCGCAAGAAGCAC	0.542																																						uc003ewe.3																			0		p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1045-1047)cGc>cAc		Homo sapiens Zic family member 1 (ZIC1), mRNA.							129	104	113					3																	147130368		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130368G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1046G>A	3.37:g.147130368G>A	ENSP00000282928:p.Arg349His						p.R349H	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1765	+			349					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1046G>A	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.041275|5.041275	0.93685|0.93685	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|T	.|0.07567	.|3.18	3.48|3.48	3.48|3.48	0.39840|0.39840	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.24547|0.24547	0.0595|0.0595	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.79108	.|0.992	T|T	0.03259|0.03259	-1.1055|-1.1055	5|10	.|0.87932	.|D	.|0	.|.	15.1592|15.1592	0.72767|0.72767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|349	.|Q15915	.|ZIC1_HUMAN	T|H	38|349	.|ENSP00000282928:R349H	.|ENSP00000282928:R349H	A|R	+|+	1|2	0|0	ZIC1|ZIC1	148613058|148613058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.515000|9.515000	0.98015|0.98015	1.772000|1.772000	0.52199|0.52199	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.542	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		A	147130368	G	A	147130368	3	1	26	1	0	0	0	0	1	0	0	0	17675	1087	38	1	1052	1	ZIC1	3	147130368	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	53526655	147130368	50892062	19	1660											
SULT1B1	27284	broad.mit.edu	37	chr4	70596339	70596339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatgatcctatccaagaTctcatcattcaggttcttct	10	15	6	10	0	5	2	3	1	3	1	8	3	7	3	2	2	0	1	2	2	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:70596339T>G	ENST00000310613.3	-	7	955	c.658A>C	c.(658-660)Atc>Ctc	p.I220L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTATCCAAGATCTCATCATTC	0.363																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(658-660)Atc>Ctc		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							158	145	149					4																	70596339		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596339T>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.658A>C	4.37:g.70596339T>G	ENSP00000308770:p.Ile220Leu						p.I220L	NM_014465	NP_055280	O43704	ST1B1_HUMAN			6	956	-			220					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.658A>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	T	8.204	0.798881	0.16397	.	.	ENSG00000173597	ENST00000310613	D	0.81821	-1.54	4.09	-1.61	0.08399	Sulfotransferase domain (1);	0.896444	0.09311	N	0.819577	T	0.58192	0.2105	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40720	-0.9548	10	0.22706	T	0.39	.	8.9861	0.35994	0.0:0.5482:0.0:0.4518	.	220	O43704	ST1B1_HUMAN	L	220	ENSP00000308770:I220L	ENSP00000308770:I220L	I	-	1	0	SULT1B1	70630928	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	-0.373000	0.07494	-0.202000	0.10268	-0.605000	0.04089	ATC		0.363	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		G	70596339	T	G	70596339	3	3	26	1	0	0	0	0	1	0	0	0	15373	1435	50	5	240	5	SULT1B1	4	70596339	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		70596339	120557937	20	1661											
BMP3	651	broad.mit.edu	37	chr4	81967402	81967402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccaaatgggatagccAcatcagagctgccctttcca	10	10	8	13	0	1	1	1	0	0	1	3	2	3	2	4	1	3	2	4	1	2	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:81967402A>G	ENST00000282701.2	+	2	1147	c.827A>G	c.(826-828)cAc>cGc	p.H276R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	276					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGGATAGCCACATCAGAGCT	0.517																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(826-828)cAc>cGc		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.							78	82	81					4																	81967402		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967402A>G	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.827A>G	4.37:g.81967402A>G	ENSP00000282701:p.His276Arg						p.H276R	NM_001201	NP_001192	P12645	BMP3_HUMAN			1	1147	+			276					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.827A>G	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	2.120	-0.401680	0.04865	.	.	ENSG00000152785	ENST00000282701	T	0.73047	-0.71	5.27	1.13	0.20643	.	0.440982	0.28595	N	0.014789	T	0.55986	0.1955	L	0.50333	1.59	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.34378	-0.9831	10	0.11485	T	0.65	.	7.49	0.27456	0.661:0.2673:0.0717:0.0	.	276	P12645	BMP3_HUMAN	R	276	ENSP00000282701:H276R	ENSP00000282701:H276R	H	+	2	0	BMP3	82186426	0.029000	0.19370	0.990000	0.47175	0.095000	0.18619	1.309000	0.33539	0.391000	0.25143	0.533000	0.62120	CAC		0.517	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			G	81967402	A	G	81967402	3	3	26	1	0	0	0	0	1	0	0	0	1461	159	6	4	833	4	BMP3	4	81967402	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	11371063	81967402	109186874	21	1662											
QRFPR	84109	broad.mit.edu	37	chr4	122254151	122254151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagatcttctggtgcacagGgctggtccactcttctaagc	7	12	11	11	0	4	1	0	0	4	1	5	1	5	1	1	3	2	3	1	3	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:122254151G>A	ENST00000394427.2	-	4	1033	c.622C>T	c.(622-624)Cct>Tct	p.P208S	QRFPR_ENST00000334383.5_Missense_Mutation_p.P208S	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	208					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGGTGCACAGGGCTGGTCCAC	0.388																																						uc010inj.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(622-624)Cct>Tct		Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.							120	113	115					4																	122254151		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122254151G>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.622C>T	4.37:g.122254151G>A	ENSP00000377948:p.Pro208Ser					QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	p.P208S	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			3	1001	-			208						Missense_Mutation	SNP	ENST00000394427.2	37	c.622C>T	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231095	0.39399	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.36157	1.27;1.27	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.114545	0.64402	D	0.000009	T	0.20007	0.0481	N	0.04387	-0.21	0.37520	D	0.917516	B;B	0.23128	0.044;0.08	B;B	0.23419	0.046;0.041	T	0.19745	-1.0296	10	0.18710	T	0.47	.	16.0372	0.80640	0.0:0.1334:0.8666:0.0	.	208;208	Q96P65;G4XH69	QRFPR_HUMAN;.	S	208	ENSP00000377948:P208S;ENSP00000335610:P208S	ENSP00000335610:P208S	P	-	1	0	QRFPR	122473601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.577000	0.46042	2.871000	0.98454	0.655000	0.94253	CCT		0.388	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		A	122254151	G	A	122254151	3	1	26	1	0	0	0	0	1	0	0	0	12878	1232	43	3	685	3	QRFPR	4	122254151	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	40286749	122254151	68900125	22	1663											
CARD6	84674	broad.mit.edu	37	chr5	40853779	40853779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagggccgaggtaaaaGttttggtattcaatccttcc	9	11	11	10	1	1	0	1	0	0	0	3	1	3	0	4	4	0	3	4	4	4	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:40853779G>A	ENST00000254691.5	+	3	2544	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	782					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CGAGGTAAAAGTTTTGGTATT	0.488																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2344-2346)aGt>aAt		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							104	120	115					5																	40853779		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853779G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2345G>A	5.37:g.40853779G>A	ENSP00000254691:p.Ser782Asn						p.S782N	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	2420	+			782					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2345G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.806073	0.16467	.	.	ENSG00000132357	ENST00000254691	T	0.11495	2.77	5.15	-3.59	0.04583	.	0.757148	0.12581	N	0.456419	T	0.03263	0.0095	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43637	-0.9379	10	0.02654	T	1	-0.0062	7.401	0.26965	0.6606:0.0:0.2054:0.134	.	782	Q9BX69	CARD6_HUMAN	N	782	ENSP00000254691:S782N	ENSP00000254691:S782N	S	+	2	0	CARD6	40889536	0.000000	0.05858	0.000000	0.03702	0.357000	0.29423	-1.012000	0.03649	-0.586000	0.05898	0.555000	0.69702	AGT		0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40853779	G	A	40853779	3	1	26	1	0	0	0	0	1	0	0	0	2650	1029	36	3	2355	3	CARD6	5	40853779	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		40853779	140061481	23	1664											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766854	64766854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatcaatagggtccatactCcgtcttctccttgagtgttt	7	15	9	10	1	3	1	1	1	2	0	6	2	5	2	3	2	1	1	3	2	3	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:64766854C>T	ENST00000536360.1	-	3	1026	c.213G>A	c.(211-213)cgG>cgA	p.R71R				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	71						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGTCCATACTCCGTCTTCTCC	0.383																																						uc003jtp.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(211-213)cgG>cgA		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.							120	119	119					5																	64766854		2203	4300	6503	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766854C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.213G>A	5.37:g.64766854C>T						ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	p.R71R	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	2	1027	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	71					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.213G>A																																																																																					0.383	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		T	64766854	C	T	64766854	2	4	26	1	0	0	0	0	0	0	0	1	270	842	30	3		3	ADAMTS6	5	64766854	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	23913075	64766854	116148406	24	1665											
MAP1B	4131	broad.mit.edu	37	chr5	71494069	71494069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctcccctaaaactgcAaagtccaggacacccgttca	12	9	6	14	1	2	0	1	0	1	0	4	2	3	1	4	1	2	2	4	1	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:71494069A>G	ENST00000296755.7	+	5	5185	c.4887A>G	c.(4885-4887)gcA>gcG	p.A1629A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1629					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTAAAACTGCAAAGTCCAGGA	0.438																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(4885-4887)gcA>gcG		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							106	110	108					5																	71494069		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494069A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4887A>G	5.37:g.71494069A>G						MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	p.A1629A	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	5128	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1629					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.4887A>G	CCDS4012.1																																																																																				0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		G	71494069	A	G	71494069	2	3	26	1	0	0	0	0	0	0	0	1	9228	117	5	4		4	MAP1B	5	71494069	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08	6727215	71494069	109421191	25	1666											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857767	140857770	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															aaatctcaccttttatctacTtctttctctaatcctggttt																										TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:140857767_140857770delTTCT	ENST00000308177.3	+	1	2188_2191	c.2084_2087delTTCT	c.(2083-2088)cttcttfs	p.LL695fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	695					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCTACTTCTTTCTCTAATC	0.49											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lkv.2																			0		p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2083-2088)cttcttfs		Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857767_140857770delTTCT	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2084_2087delTTCT	5.37:g.140857771_140857774delTTCT	ENSP00000312070:p.Leu695fs		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC5_uc003lkw.2_Intron	p.L695fs	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2199_2202	+			695					O60622|Q08192|Q9Y5C4	Frame_Shift_Del	DEL	ENST00000308177.3	37	c.2084_2087delTTCT	CCDS4261.1																																																																																				0.49	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		-	140857770	TTCT	-	140857767	7	5	26	1	0	1	0	1	0	0	0	0	11569	1609	56	0	2086	0	PCDHGC3	5	140857767	Frame_Shift_Del	DEL	TTCT	TCGA-06-0155-01B-01D-1492-08	69363698	140857767	40057493	26	1667											
SGCD	6444	broad.mit.edu	37	chr5	155935645	155935645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgaggatcacagaaaaagGtctaaagctagaaggagact	17	6	11	7	0	2	4	1	1	1	3	2	6	2	5	1	3	1	1	1	3	6	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:155935645G>T	ENST00000435422.3	+	3	711	c.224G>T	c.(223-225)gGt>gTt	p.G75V	SGCD_ENST00000517913.1_Missense_Mutation_p.G76V|SGCD_ENST00000337851.4_Missense_Mutation_p.G76V|SGCD_ENST00000447401.1_Missense_Mutation_p.G76V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	75					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGAAAAAGGTCTAAAGCTA	0.418																																						uc003lwc.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(226-228)gGt>gTt		Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.							100	90	93					5																	155935645		1843	4099	5942	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935645G>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.224G>T	5.37:g.155935645G>T	ENSP00000403003:p.Gly75Val					SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.3_Missense_Mutation_p.G76V|SGCD_uc003lwd.4_Missense_Mutation_p.G75V	p.G76V	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	746	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	75					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.227G>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751199	0.89753	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.49	5.49	0.81192	.	0.103566	0.64402	D	0.000003	D	0.98074	0.9365	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.98221	1.0478	10	0.52906	T	0.07	-7.1013	17.9142	0.88944	0.0:0.0:1.0:0.0	.	75;76;76	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	V	76;75;76;76	ENSP00000429378:G76V;ENSP00000403003:G75V;ENSP00000338343:G76V;ENSP00000408324:G76V	ENSP00000338343:G76V	G	+	2	0	SGCD	155868223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.732000	0.93576	0.585000	0.79938	GGT		0.418	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			T	155935645	G	T	155935645	3	4	26	1	0	0	0	0	1	0	0	0	14201	1261	44	5	237	5	SGCD	5	155935645	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	15077878	155935645	24979615	27	1668											
FLT4	2324	broad.mit.edu	37	chr5	180048669	180048669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagcgtggcgtggcgCgccccaggtgccacctcctc	4	6	15	16	4	0	1	0	1	0	0	2	1	1	1	5	4	2	1	5	4	0	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:180048669C>T	ENST00000261937.6	-	13	1971	c.1893G>A	c.(1891-1893)gcG>gcA	p.A631A	FLT4_ENST00000393347.3_Silent_p.A631A|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.A631A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	631	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTGGCGCGCCCCAGGTG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1891-1893)gcG>gcA		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						26	25	26					5																	180048669		2200	4294	6494	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048669C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1893G>A	5.37:g.180048669C>T						FLT4_uc003mma.4_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.2_Silent_p.A631A	p.A631A	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	1972	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	631			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1893G>A	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180048669	C	T	180048669	2	4	26	1	0	0	0	0	0	0	0	1	5944	755	27	1		1	FLT4	5	180048669	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	24113024	180048669	866591	28	1669											
ITPR3	3710	broad.mit.edu	37	chr6	33653882	33653882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaacttggtatgcgagaCgctgcagttcctggacatca	10	10	10	11	2	1	1	1	0	0	1	2	3	2	2	1	2	4	4	1	2	3	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:33653882C>T	ENST00000374316.5	+	43	6780	c.5720C>T	c.(5719-5721)aCg>aTg	p.T1907M	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1907M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1907					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GTATGCGAGACGCTGCAGTTC	0.592																																						uc021ywr.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5719-5721)aCg>aTg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.							71	61	64					6																	33653882		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653882C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5720C>T	6.37:g.33653882C>T	ENSP00000363435:p.Thr1907Met						p.T1907M	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			41	5944	+			1907					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5720C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857121	0.91433	.	.	ENSG00000096433	ENST00000374316	D	0.95622	-3.76	4.82	4.82	0.62117	RyR/IP3R Homology associated domain (1);	0.054587	0.64402	D	0.000001	D	0.98093	0.9371	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99410	1.0930	10	0.87932	D	0	-24.5716	17.5201	0.87784	0.0:1.0:0.0:0.0	.	1907	Q14573	ITPR3_HUMAN	M	1907	ENSP00000363435:T1907M	ENSP00000363435:T1907M	T	+	2	0	ITPR3	33761860	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.818000	0.86416	2.227000	0.72691	0.467000	0.42956	ACG		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33653882	C	T	33653882	3	4	26	1	0	0	0	0	1	0	0	0	7922	536	19	1	5886	1	ITPR3	6	33653882	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		33653882	137461185	29	1670											
GLP1R	2740	broad.mit.edu	37	chr6	39024212	39024212	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagacggtgcagaaatggCgagaataccgacgccagtgc	12	4	16	9	4	0	3	0	0	0	3	0	6	0	3	2	3	3	1	2	3	3	1	rs141990898		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:39024212C>T	ENST00000373256.4	+	2	161	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	40					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.R40*(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCAGAAATGGCGAGAATACCG	0.632																																						uc003ooj.4																			1	Substitution - Nonsense(1)	p.R40*(2)	large_intestine(1)	breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(118-120)Cga>Tga		Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	Exenatide(DB01276)|Glucagon recombinant(DB00040)	C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	67	57	60		118	1.2	1	6	dbSNP_134	60	0,8600		0,0,4300	yes	stop-gained	GLP1R	NM_002062.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		40/464	39024212	2,13004	2203	4300	6503	SO:0001587	stop_gained	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39024212C>T		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.118C>T	6.37:g.39024212C>T	ENSP00000362353:p.Arg40*					GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	p.R40*	NM_002062	NP_002053	P43220	GLP1R_HUMAN			1	178	+			40					Q2M229|Q99669	Nonsense_Mutation	SNP	ENST00000373256.4	37	c.118C>T	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263182	0.95399	4.54E-4	0.0	ENSG00000112164	ENST00000373256	.	.	.	5.53	1.17	0.20885	.	0.206521	0.33092	N	0.005290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.7886	0.05381	0.4051:0.366:0.1357:0.0933	.	.	.	.	X	40	.	ENSP00000362353:R40X	R	+	1	2	GLP1R	39132190	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	0.891000	0.28309	0.261000	0.21753	-0.150000	0.13652	CGA		0.632	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			T	39024212	C	T	39024212	4	4	26	1	0	0	0	0	0	1	0	0	6452	760	27	1	124	1	GLP1R	6	39024212	Nonsense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	5370330	39024212	132090855	30	1671											
DST	667	broad.mit.edu	37	chr6	56505355	56505355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcctttgctgtacacagaAgaacattcgttccttaaggc	10	12	8	11	2	0	2	0	0	0	2	3	2	2	2	2	1	3	3	2	1	4	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:56505355A>G	ENST00000361203.3	-	14	1450	c.1443T>C	c.(1441-1443)tcT>tcC	p.S481S	DST_ENST00000370788.2_Silent_p.S481S|DST_ENST00000518935.1_Silent_p.S155S|DST_ENST00000446842.2_Silent_p.S155S|DST_ENST00000421834.2_Silent_p.S481S|DST_ENST00000370769.4_Silent_p.S481S|DST_ENST00000370754.5_Silent_p.S659S|DST_ENST00000244364.6_Silent_p.S155S|DST_ENST00000370765.6_Silent_p.S155S|DST_ENST00000312431.6_Silent_p.S481S			Q03001	DYST_HUMAN	dystonin	481					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTACACAGAAGAACATTCGT	0.393																																						uc003pcy.4																			0		p.S155P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(463-465)tcT>tcC		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							100	98	99					6																	56505355		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505355A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1443T>C	6.37:g.56505355A>G						DST_uc021zay.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc021zax.1_Silent_p.S155S|DST_uc003pdc.4_Silent_p.S155S|DST_uc003pdd.4_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	p.S155S	NM_015548	NP_056363	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		3	573	-	Lung NSC(77;0.103)		481			Actin-binding.|CH 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.465T>C																																																																																					0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56505355	A	G	56505355	2	3	26	1	0	0	0	0	0	0	0	1	4783	59	3	4		4	DST	6	56505355	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08	17481143	56505355	114609712	31	1672											
HSF2	3298	broad.mit.edu	37	chr6	122744040	122744040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctcatccagtctgacCtcagaagatccagtgaccat	12	9	8	12	0	3	4	2	2	1	2	5	4	5	4	4	1	0	1	4	1	2	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:122744040C>A	ENST00000368455.4	+	9	1200	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	HSF2_ENST00000452194.1_Silent_p.T336T	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	336					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCAGTCTGACCTCAGAAGATC	0.433																																						uc003pyu.2																			0				large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1006-1008)acC>acA		Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.							109	88	95					6																	122744040		2203	4298	6501	SO:0001819	synonymous_variant	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122744040C>A	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1008C>A	6.37:g.122744040C>A						HSF2_uc003pyv.2_Silent_p.T336T	p.T336T	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	8	1195	+			336					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	c.1008C>A	CCDS5124.1																																																																																				0.433	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		A	122744040	C	A	122744040	2	1	26	1	0	0	0	0	0	0	0	1	7396	668	24	5		5	HSF2	6	122744040	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	66238685	122744040	48371027	32	1673											
QKI	9444	broad.mit.edu	37	chr6	163899861	163899861	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggacttacagccaaacAacttgaagcagaaaccggat	17	6	9	9	1	0	3	0	1	0	2	0	5	0	5	2	2	6	1	2	2	6	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:163899861A>C	ENST00000361752.3	+	3	886	c.335A>C	c.(334-336)cAa>cCa	p.Q112P	QKI_ENST00000361195.2_Missense_Mutation_p.Q112P|QKI_ENST00000275262.7_Missense_Mutation_p.Q112P|QKI_ENST00000424802.3_Missense_Mutation_p.Q112P|QKI_ENST00000392127.2_Missense_Mutation_p.Q112P|QKI_ENST00000453779.2_Missense_Mutation_p.Q112P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	112	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACAGCCAAACAACTTGAAGCA	0.368																																						uc003qui.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(334-336)cAa>cCa		Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.							88	89	88					6																	163899861		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899861A>C	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.335A>C	6.37:g.163899861A>C	ENSP00000355094:p.Gln112Pro					QKI_uc003quj.3_Missense_Mutation_p.Q112P|QKI_uc003quh.3_Missense_Mutation_p.Q112P|QKI_uc003que.3_Missense_Mutation_p.Q112P|QKI_uc003quf.3_Missense_Mutation_p.Q112P|QKI_uc003qug.3_Missense_Mutation_p.Q112P	p.Q112P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	2	886	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	112			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.335A>C	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614872	0.87359	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.68	5.68	0.88126	K Homology (1);K Homology, type 1, subgroup (1);	0.103058	0.64402	D	0.000002	T	0.61185	0.2327	H	0.94658	3.565	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.995;0.982;0.995;0.992;0.995;0.992	T	0.74386	-0.3682	10	0.87932	D	0	-1.7776	15.9194	0.79547	1.0:0.0:0.0:0.0	.	112;112;112;112;112;112	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	P	112;112;112;112;112;112;57;57;57	ENSP00000408775:Q112P;ENSP00000275262:Q112P;ENSP00000375973:Q112P;ENSP00000355094:Q112P;ENSP00000354867:Q112P;ENSP00000408382:Q112P;ENSP00000443690:Q57P;ENSP00000440991:Q57P;ENSP00000440599:Q57P	ENSP00000275262:Q112P	Q	+	2	0	QKI	163819851	1.000000	0.71417	0.981000	0.43875	0.942000	0.58702	8.938000	0.92943	2.160000	0.67779	0.482000	0.46254	CAA		0.368	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		C	163899861	A	C	163899861	3	2	26	1	0	0	0	0	1	0	0	0	12873	130	5	5	345	5	QKI	6	163899861	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	41155821	163899861	7215206	33	1674											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26236176	26236178	+	Splice_Site	DEL	CCT	CCT	-																															aagaaacagaattaaaattaCctcctcttccactcctagaa																										TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:26236176_26236178delCCT	ENST00000354667.4	-	6	780_782	c.612_614delAGG	c.(610-615)ggaggc>ggc	p.204_205GG>G	HNRNPA2B1_ENST00000356674.7_Splice_Site_p.192_193GG>G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	204	Gly-rich.			G -> S (in Ref. 4; BAF82118). {ECO:0000305}.	gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATTAAAATTACCTCCTCTTCCAC	0.379			T	ETV1	prostate																																	uc003sxr.4				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate	HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.e6+1		Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.																																				SO:0001630	splice_region_variant	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236176_26236178delCCT	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.613+1AGG>-	7.37:g.26236179_26236181delCCT						HNRNPA2B1_uc003sxs.4_Splice_Site_p.G193_splice	p.G205_splice	NM_031243	NP_112533	P22626	ROA2_HUMAN			6	829	-			205	G -> S (in Ref. 4; BAF82118).		Gly-rich.		A8K064|P22627|Q9UC98|Q9UDJ2	Splice_Site	DEL	ENST00000354667.4	37	c.613_splice	CCDS43557.1																																																																																				0.379	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137	In_Frame_Del	-	26236178	CCT	-	26236176	8	5	26	1	0	1	0	1	0	0	1	0	7259	521	18	0	471	0	HNRNPA2B1	7	26236176	Splice_Site	DEL	CCT	TCGA-06-0155-01B-01D-1492-08		26236176	132902487	34	1675											
EGFR	1956	broad.mit.edu	37	chr7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattatgtggtgacagatCacggctcgtgcgtccgagcc	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:55223543C>T	ENST00000275493.2	+	8	1087	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_ENST00000420316.2_Missense_Mutation_p.H304Y|EGFR_ENST00000454757.2_Missense_Mutation_p.H251Y|EGFR_ENST00000455089.1_Missense_Mutation_p.H259Y|EGFR_ENST00000342916.3_Missense_Mutation_p.H304Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H304Y|EGFR_ENST00000344576.2_Missense_Mutation_p.H304Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(910-912)Cac>Tac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66	61	62					7																	55223543		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223543C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.910C>T	7.37:g.55223543C>T	ENSP00000275493:p.His304Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.H304Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		304					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.910C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802534	0.16397	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.82923	2.615	0.80722	D	1	B;B;B;B;B	0.33288	0.003;0.001;0.406;0.065;0.047	B;B;B;B;B	0.30316	0.005;0.01;0.114;0.024;0.056	T	0.64279	-0.6445	10	0.02654	T	1	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	259;304;304;304;304	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	259;304;174;304;304;304;304;251;98	ENSP00000415559:H259Y;ENSP00000342376:H304Y;ENSP00000345973:H304Y;ENSP00000413843:H304Y;ENSP00000275493:H304Y;ENSP00000410031:H304Y;ENSP00000395243:H251Y	ENSP00000275493:H304Y	H	+	1	0	EGFR	55191037	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.344000	0.52174	2.655000	0.90218	0.655000	0.94253	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55223543	C	T	55223543	3	4	26	1	0	0	0	0	1	0	0	0	4967	826	29	3	940	3	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	28987367	55223543	103915120	35	1676											
TPST1	8460	broad.mit.edu	37	chr7	65751542	65751542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcaagccagtcaatgtagGagctctatcaaaatgggttg	14	10	10	7	0	4	0	3	0	1	0	4	1	4	1	1	2	2	3	1	2	7	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:65751542G>A	ENST00000304842.5	+	3	1315	c.890G>A	c.(889-891)gGa>gAa	p.G297E	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	297					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCAATGTAGGAGCTCTATCA	0.373																																						uc003tuw.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(889-891)gGa>gAa		Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.							130	120	123					7																	65751542		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751542G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.890G>A	7.37:g.65751542G>A	ENSP00000302413:p.Gly297Glu					TPST1_uc010kzy.2_Non-coding_Transcript	p.G297E	NM_003596	NP_003587	O60507	TPST1_HUMAN			2	1242	+			297					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.890G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323162	0.01320	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.51817	0.69	5.56	-1.8	0.07907	.	0.248301	0.39210	N	0.001429	T	0.09512	0.0234	N	0.00246	-1.78	0.28885	N	0.894173	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40289	-0.9571	10	0.02654	T	1	-2.7784	8.1419	0.31089	0.0972:0.4923:0.3198:0.0907	.	297;297	F5H7U7;O60507	.;TPST1_HUMAN	E	297	ENSP00000302413:G297E	ENSP00000302413:G297E	G	+	2	0	TPST1	65388977	1.000000	0.71417	0.865000	0.33974	0.561000	0.35649	2.841000	0.48223	-0.500000	0.06614	-1.946000	0.00489	GGA		0.373	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		A	65751542	G	A	65751542	3	1	26	1	0	0	0	0	1	0	0	0	16424	1174	41	3	896	3	TPST1	7	65751542	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	10527999	65751542	93387121	36	1677											
SRPK2	6733	broad.mit.edu	37	chr7	104782641	104782641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcgggaattttatgtcGtccatttggcaattcaccat	9	15	8	9	2	1	1	1	1	0	0	4	2	2	2	2	2	0	1	2	2	3	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:104782641G>A	ENST00000393651.3	-	11	1444	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	SRPK2_ENST00000489828.1_Nonsense_Mutation_p.R442*|SRPK2_ENST00000357311.3_Nonsense_Mutation_p.R442*	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTATGTCGTCCATTTGGC	0.448																																						uc003vct.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(1324-1326)Cga>Tga		Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.							159	151	154					7																	104782641		2203	4300	6503	SO:0001587	stop_gained	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782641G>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1357C>T	7.37:g.104782641G>A	ENSP00000377262:p.Arg453*					SRPK2_uc003vcu.3_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.3_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	p.R442*	NM_182691	NP_872633	P78362	SRPK2_HUMAN			9	1511	-			442			Protein kinase.			Nonsense_Mutation	SNP	ENST00000393651.3	37	c.1324C>T	CCDS34724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.708030|5.708030	0.96821|0.96821	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828|ENST00000477925	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.794741|.	0.11646|.	N|.	0.543316|.	.|T	.|0.64929	.|0.2643	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69942	.|-0.5008	.|3	0.07644|.	T|.	0.81|.	-2.8253|-2.8253	13.6431|13.6431	0.62265|0.62265	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	.|.	.|.	.|.	X|M	453;442;442|48	.|.	ENSP00000349863:R442X|.	R|T	-|-	1|2	2|0	SRPK2|SRPK2	104569877|104569877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.507000|6.507000	0.73717|0.73717	2.647000|2.647000	0.89833|0.89833	0.555000|0.555000	0.69702|0.69702	CGA|ACG		0.448	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		A	104782641	G	A	104782641	4	1	26	1	0	0	0	0	0	1	0	0	15159	1153	40	1	766	1	SRPK2	7	104782641	Nonsense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	39031099	104782641	54356022	37	1678											
GPR37	2861	broad.mit.edu	37	chr7	124404927	124404927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccagacaagtttcgtttCtggacgcaggggcgaccccg	7	7	12	15	4	1	1	0	0	1	1	2	3	1	2	4	3	0	3	4	3	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:124404927C>G	ENST00000303921.2	-	1	754	c.104G>C	c.(103-105)aGa>aCa	p.R35T		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	35					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTTCGTTTCTGGACGCAGG	0.647																																						uc003vli.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(103-105)aGa>aCa		Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.							22	23	23					7																	124404927		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404927C>G		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.104G>C	7.37:g.124404927C>G	ENSP00000306449:p.Arg35Thr						p.R35T	NM_005302	NP_005293	O15354	GPR37_HUMAN			0	755	-			35					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.104G>C	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885625	0.17540	.	.	ENSG00000170775	ENST00000303921	T	0.08984	3.03	5.1	4.22	0.49857	.	0.422095	0.27886	N	0.017444	T	0.06005	0.0156	N	0.19112	0.55	0.26003	N	0.982098	B	0.23058	0.079	B	0.21546	0.035	T	0.26985	-1.0087	10	0.48119	T	0.1	-7.4175	9.248	0.37539	0.0:0.903:0.0:0.097	.	35	O15354	GPR37_HUMAN	T	35	ENSP00000306449:R35T	ENSP00000306449:R35T	R	-	2	0	GPR37	124192163	0.000000	0.05858	0.200000	0.23457	0.017000	0.09413	0.445000	0.21677	1.376000	0.46267	0.655000	0.94253	AGA		0.647	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		G	124404927	C	G	124404927	3	3	26	1	0	0	0	0	1	0	0	0	6691	913	32	5	1745	5	GPR37	7	124404927	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	19622286	124404927	34733736	38	1679											
FGL1	2267	broad.mit.edu	37	chr8	17726189	17726189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggatgaaaattccccGcaagggaatctccagctgtt	11	9	9	12	1	2	1	1	1	1	0	4	3	3	3	4	2	1	3	4	2	4	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:17726189G>A	ENST00000398056.2	-	9	1462	c.647C>T	c.(646-648)gCg>gTg	p.A216V	FGL1_ENST00000381841.2_Missense_Mutation_p.A216V|FGL1_ENST00000427924.1_Missense_Mutation_p.A216V|FGL1_ENST00000518650.1_Missense_Mutation_p.A216V|FGL1_ENST00000522444.1_Missense_Mutation_p.A216V|FGL1_ENST00000381840.2_Missense_Mutation_p.A216V|FGL1_ENST00000398054.1_Missense_Mutation_p.A216V			Q08830	FGL1_HUMAN	fibrinogen-like 1	216	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		AAAATTCCCCGCAAGGGAATC	0.453																																						uc003wye.3																			0		p.L266L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(796-798)gCg>gTg		Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.							73	74	74					8																	17726189		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17726189G>A	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.647C>T	8.37:g.17726189G>A	ENSP00000381133:p.Ala216Val					FGL1_uc003wxx.3_Missense_Mutation_p.A216V|FGL1_uc003wxy.3_Missense_Mutation_p.A216V|FGL1_uc003wya.3_Missense_Mutation_p.A216V|FGL1_uc003wyb.3_Missense_Mutation_p.A216V	p.A266V	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	8	1463	-			216			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.797C>T	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578148	0.28180	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	4.57	1.35	0.21983	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.997378	0.08124	N	0.994188	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B;B;P	0.36944	0.115;0.095;0.574	B;B;B	0.31869	0.051;0.015;0.137	T	0.24048	-1.0171	10	0.15066	T	0.55	.	10.7808	0.46377	0.0:0.265:0.5982:0.1368	.	186;216;216	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	V	216;216;186;216;216;216;216;216;216	ENSP00000381133:A216V;ENSP00000429757:A216V;ENSP00000371263:A216V;ENSP00000401952:A216V;ENSP00000381131:A216V;ENSP00000371262:A216V;ENSP00000428430:A216V	ENSP00000221204:A216V	A	-	2	0	FGL1	17770469	0.874000	0.30092	0.001000	0.08648	0.626000	0.37791	4.252000	0.58785	0.562000	0.29204	0.585000	0.79938	GCG		0.453	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		A	17726189	G	A	17726189	3	1	26	1	0	0	0	0	1	0	0	0	5872	1087	38	1	299	1	FGL1	8	17726189	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		17726189	128637833	39	1680											
DOCK5	80005	broad.mit.edu	37	chr8	25222153	25222153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcagggtttttctccGtgctataaatcagtttgctg	6	16	9	10	2	2	0	1	0	1	0	4	0	3	0	2	1	2	5	2	1	3	6	rs148483229	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:25222153G>A	ENST00000276440.7	+	30	3100	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1019					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTTTTCTCCGTGCTATAAAT	0.413													G|||	4	0.000798722	0.0023	0	5008	,	,		18372	0		0.001	False		,,,				2504	0				Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3055-3057)cGt>cAt		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	139	119	126		3056	4.7	1	8	dbSNP_134	126	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DOCK5	NM_024940.6	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	1019/1871	25222153	3,13003	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25222153G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3056G>A	8.37:g.25222153G>A	ENSP00000276440:p.Arg1019His					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.3_Missense_Mutation_p.R589H|DOCK5_uc003xej.3_Non-coding_Transcript	p.R1019H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	29	3193	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1019					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3056G>A	CCDS6047.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	23.6	4.433675	0.83776	2.27E-4	2.33E-4	ENSG00000147459	ENST00000276440	T	0.25579	1.79	5.62	4.74	0.60224	.	0.107760	0.64402	D	0.000006	T	0.31638	0.0803	M	0.76574	2.34	0.49130	D	0.999757	P;P;P	0.50156	0.872;0.932;0.751	P;P;P	0.49999	0.507;0.628;0.507	T	0.19943	-1.0290	10	0.56958	D	0.05	.	13.9421	0.64062	0.0726:0.0:0.9274:0.0	.	1009;794;1019	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	H	1019	ENSP00000276440:R1019H	ENSP00000276440:R1019H	R	+	2	0	DOCK5	25278070	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	6.715000	0.74697	2.651000	0.90000	0.650000	0.86243	CGT		0.413	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25222153	G	A	25222153	3	1	26	1	0	0	0	0	1	0	0	0	4690	1145	40	1	3174	1	DOCK5	8	25222153	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	7495964	25222153	121141869	40	1681											
PCMTD1	115294	broad.mit.edu	37	chr8	52733157	52733157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttaactctctttcttttCcttttgggtggagccctttg	3	21	8	9	0	2	0	0	0	2	0	4	1	3	1	2	2	2	1	2	2	1	8			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:52733157C>A	ENST00000360540.5	-	7	1234	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R276S|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R200S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	276						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408																																						uc003xqx.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(826-828)agG>agT		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							145	150	148					8																	52733157		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733157C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.828G>T	8.37:g.52733157C>A	ENSP00000353739:p.Arg276Ser					PCMTD1_uc011ldm.2_Missense_Mutation_p.R146S|PCMTD1_uc011ldn.2_Missense_Mutation_p.R88S|PCMTD1_uc010lya.3_Missense_Mutation_p.R200S	p.R276S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1169	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	276					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.828G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448137	0.63178	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46063	0.88;0.88;0.88	5.97	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.60455	1.87	0.80722	D	1	P;B;B	0.46395	0.877;0.234;0.212	P;B;B	0.45829	0.494;0.09;0.055	T	0.35919	-0.9769	10	0.48119	T	0.1	-27.68	1.8472	0.03161	0.2394:0.439:0.1211:0.2005	.	146;200;276	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	276;200;276	ENSP00000353739:R276S;ENSP00000444026:R200S;ENSP00000428099:R276S	ENSP00000353739:R276S	R	-	3	2	PCMTD1	52895710	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.806000	0.27126	1.536000	0.49237	0.655000	0.94253	AGG		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52733157	C	A	52733157	3	1	26	1	0	0	0	0	1	0	0	0	11586	854	30	5	249	5	PCMTD1	8	52733157	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	27511004	52733157	93630865	41	1682											
STK3	6788	broad.mit.edu	37	chr8	99718703	99718703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taattttcttaccctcattgGatgtatatcagcataaggag	12	15	7	7	0	3	0	2	0	1	0	3	2	3	2	1	2	2	2	1	2	5	8			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:99718703G>C	ENST00000419617.2	-	6	816	c.676C>G	c.(676-678)Cca>Gca	p.P226A	STK3_ENST00000523601.1_Missense_Mutation_p.P254A	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCCTCATTGGATGTATATCA	0.348																																						uc003yio.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(760-762)Cca>Gca		Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.							73	74	73					8																	99718703		2073	4245	6318	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99718703G>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.676C>G	8.37:g.99718703G>C	ENSP00000390500:p.Pro226Ala					STK3_uc003yip.3_Missense_Mutation_p.P226A|STK3_uc010mbm.1_Intron	p.P254A	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	7	1234	-	Breast(36;2.4e-06)	Breast(495;0.106)	226			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.760C>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328678	0.81690	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.63913	-0.07;-0.07	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.42744	1.35	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.59761	0.863;0.863	T	0.74435	-0.3666	10	0.72032	D	0.01	.	18.5716	0.91137	0.0:0.0:1.0:0.0	.	226;254	Q13188;B3KYA7	STK3_HUMAN;.	A	226;254	ENSP00000390500:P226A;ENSP00000429744:P254A	ENSP00000390500:P226A	P	-	1	0	STK3	99787879	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.869000	0.99810	2.378000	0.81104	0.655000	0.94253	CCA		0.348	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		C	99718703	G	C	99718703	3	2	26	1	0	0	0	0	1	0	0	0	15294	1174	41	5	823	5	STK3	8	99718703	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	46985546	99718703	46645319	42	1683											
ATAD2	29028	broad.mit.edu	37	chr8	124358469	124358469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctggttctcctactaTcaatattcttggtcgaaaag	12	14	6	9	1	3	0	1	0	2	0	6	1	4	0	2	2	1	1	2	2	7	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:124358469T>C	ENST00000287394.5	-	18	2496	c.2389A>G	c.(2389-2391)Ata>Gta	p.I797V	ATAD2_ENST00000521903.1_Missense_Mutation_p.I115V|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	797					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCCTACTATCAATATTCTT	0.353																																						uc003yqh.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2389-2391)Ata>Gta		Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.							81	79	79					8																	124358469		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124358469T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2389A>G	8.37:g.124358469T>C	ENSP00000287394:p.Ile797Val					ATAD2_uc011lii.2_Missense_Mutation_p.I588V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I797V	p.I797V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		17	2497	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		797					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2389A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266294	0.40095	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.84070	-1.8;-1.8	6.02	6.02	0.97574	.	0.057310	0.64402	D	0.000002	T	0.74943	0.3783	L	0.36672	1.1	0.33121	D	0.541823	B	0.29590	0.25	B	0.29267	0.1	T	0.78401	-0.2218	10	0.35671	T	0.21	-23.9418	10.6833	0.45828	0.2353:0.0:0.0:0.7647	.	797	Q6PL18	ATAD2_HUMAN	V	797;115	ENSP00000287394:I797V;ENSP00000429213:I115V	ENSP00000287394:I797V	I	-	1	0	ATAD2	124427650	0.974000	0.33945	0.998000	0.56505	0.948000	0.59901	1.465000	0.35299	2.299000	0.77371	0.528000	0.53228	ATA		0.353	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		C	124358469	T	C	124358469	3	2	26	1	0	0	0	0	1	0	0	0	1071	1435	50	4	1827	4	ATAD2	8	124358469	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	24639766	124358469	22005553	43	1684											
SPATC1	375686	broad.mit.edu	37	chr8	145095497	145095497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactgagcccccccagtcGacccaggacccagagcctct	8	5	8	20	1	1	2	0	1	1	1	3	4	2	3	7	1	2	0	7	1	0	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:145095497G>A	ENST00000377470.3	+	3	897	c.795G>A	c.(793-795)tcG>tcA	p.S265S	SPATC1_ENST00000447830.2_Silent_p.S265S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	265						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCCAGTCGACCCAGGACC	0.617																																						uc011lkw.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(793-795)tcG>tcA		Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.							152	96	115					8																	145095497		2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145095497G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.795G>A	8.37:g.145095497G>A						SPATC1_uc011lkx.2_Silent_p.S265S	p.S265S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	897	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		265					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.795G>A	CCDS6413.2																																																																																				0.617	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		A	145095497	G	A	145095497	2	1	26	1	0	0	0	0	0	0	0	1	15016	1045	37	2		2	SPATC1	8	145095497	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	20737028	145095497	1268525	44	1685											
PRKCQ	5588	broad.mit.edu	37	chr10	6553040	6553040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagagatgaggtccaCgtttttgcctttcacaatga	9	14	10	8	1	2	3	2	2	0	1	3	4	3	3	2	2	1	2	2	2	1	4	rs148376969		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:6553040C>T	ENST00000263125.5	-	3	334	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	PRKCQ_ENST00000397176.2_Missense_Mutation_p.V79M|PRKCQ_ENST00000539722.1_De_novo_Start_OutOfFrame	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	79	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATGAGGTCCACGTTTTTGCCT	0.478													C|||	1	0.000199681	0	0	5008	,	,		19946	0		0.001	False		,,,				2504	0				Ovarian(50;572 1126 10530 25349 30594)	uc001iji.1																			0		p.Q112E(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(334-336)Gtg>Atg		Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	0,4406		0,0,2203	247	208	221		235,235	2.4	1	10	dbSNP_134	221	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRKCQ	NM_001242413.1,NM_006257.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	79/644,79/707	6553040	1,13005	2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6553040C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.235G>A	10.37:g.6553040C>T	ENSP00000263125:p.Val79Met					PRKCQ_uc001ijj.2_Missense_Mutation_p.V79M|PRKCQ_uc009xim.2_Missense_Mutation_p.V79M|PRKCQ_uc009xin.2_Missense_Mutation_p.V43M|PRKCQ_uc010qax.2_5'UTR	p.V112M	NM_006257	NP_006248	Q04759	KPCT_HUMAN			1	418	-			79			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.334G>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507304	0.27036	0.0	1.16E-4	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.68624	-0.34;-0.28	5.63	2.44	0.29823	C2 calcium/lipid-binding domain, CaLB (1);	0.322570	0.33161	N	0.005220	T	0.41696	0.1170	N	0.08118	0	0.49687	D	0.999812	B;B	0.28801	0.002;0.223	B;B	0.11329	0.001;0.006	T	0.35895	-0.9770	10	0.52906	T	0.07	.	10.4412	0.44466	0.0:0.7282:0.0:0.2718	.	79;79	Q04759-2;Q04759	.;KPCT_HUMAN	M	79	ENSP00000263125:V79M;ENSP00000380361:V79M	ENSP00000263125:V79M	V	-	1	0	PRKCQ	6593046	0.114000	0.22134	0.973000	0.42090	0.448000	0.32197	1.171000	0.31896	0.751000	0.32900	0.655000	0.94253	GTG		0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		T	6553040	C	T	6553040	3	4	26	1	0	0	0	0	1	0	0	0	12515	536	19	1	1949	1	PRKCQ	10	6553040	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		6553040	128981707	45	1686											
USP6NL	9712	broad.mit.edu	37	chr10	11505268	11505268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagctccgggcctggcacGttgtcgtactgcgatgcagt	5	10	13	13	4	0	0	0	0	0	0	3	1	2	0	3	2	4	5	3	2	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:11505268G>A	ENST00000609104.1	-	15	2053	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	USP6NL_ENST00000379237.2_Silent_p.N576N|USP6NL_ENST00000277575.5_Silent_p.N570N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	553					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.N570N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCCTGGCACGTTGTCGTACT	0.662																																						uc001iks.1																			1	Substitution - coding silent(1)	p.N570N(2)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1708-1710)aaC>aaT		Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.							53	57	55					10																	11505268		2080	4194	6274	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505268G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1659C>T	10.37:g.11505268G>A						USP6NL_uc001ikt.3_Silent_p.N553N	p.N570N	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN			13	1753	-			553					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1710C>T	CCDS53492.1																																																																																				0.662	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		A	11505268	G	A	11505268	2	1	26	1	0	0	0	0	0	0	0	1	17084	1136	40	1		1	USP6NL	10	11505268	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	4952228	11505268	124029479	46	1687											
PPP3CB	5532	broad.mit.edu	37	chr10	75204531	75204531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacactccactaggcaacaTccctgtgggagtcaggccct	10	8	9	14	0	1	0	1	0	0	0	3	1	3	1	3	3	2	1	3	3	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:75204531T>A	ENST00000360663.5	-	12	1429	c.1318A>T	c.(1318-1320)Atg>Ttg	p.M440L	PPP3CB_ENST00000544628.1_Missense_Mutation_p.M68L|PPP3CB_ENST00000394829.2_Missense_Mutation_p.M441L|PPP3CB_ENST00000342558.3_Missense_Mutation_p.M440L|PPP3CB_ENST00000394822.2_Missense_Mutation_p.M458L|PPP3CB_ENST00000545874.1_Missense_Mutation_p.M355L|PPP3CB_ENST00000394828.2_Missense_Mutation_p.M441L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	440					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTAGGCAACATCCCTGTGGGA	0.483																																						uc001juf.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(1321-1323)Atg>Ttg		Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.							186	125	146					10																	75204531		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75204531T>A	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1318A>T	10.37:g.75204531T>A	ENSP00000353881:p.Met440Leu					PPP3CB_uc001jue.3_Missense_Mutation_p.M440L|PPP3CB_uc001jug.3_Missense_Mutation_p.M441L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc010qkj.2_Missense_Mutation_p.M68L	p.M441L	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN			11	1456	-	Prostate(51;0.0119)		440					P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1321A>T	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636140	0.47049	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56;3.56;3.56	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	L	0.34521	1.04	0.51482	D	0.999923	B;B;B;P;B	0.40083	0.082;0.0;0.0;0.702;0.0	B;B;B;P;B	0.56563	0.096;0.002;0.0;0.801;0.001	T	0.21245	-1.0251	10	0.32370	T	0.25	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	458;355;440;441;440	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	L	440;441;441;112;68;102;440;355;458	ENSP00000353881:M440L;ENSP00000378306:M441L;ENSP00000378305:M441L;ENSP00000437596:M68L;ENSP00000343147:M440L;ENSP00000439876:M355L;ENSP00000378299:M458L	ENSP00000343147:M440L	M	-	1	0	PPP3CB	74874537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	ATG		0.483	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		A	75204531	T	A	75204531	3	1	26	1	0	0	0	0	1	0	0	0	12398	1435	50	5	268	5	PPP3CB	10	75204531	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	63699263	75204531	60330216	47	1688											
PTEN	5728	broad.mit.edu	37	chr10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaactggtgtaatgataTgtgcatatttattacatcgg	12	14	10	5	2	0	1	0	1	0	0	1	3	0	1	0	2	3	2	0	2	6	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:89692922T>C	ENST00000371953.3	+	5	1763	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		63	Whole gene deletion(37)|Deletion - Frameshift(10)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(37)|p.C136R(9)|p.C136Y(8)|p.I135fs*44(6)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)	prostate(16)|central_nervous_system(15)|endometrium(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|bone(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM004336	PTEN	M		c.(406-408)Tgt>Cgt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							125	118	121					10																	89692922		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692922T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.406T>C	10.37:g.89692922T>C	ENSP00000361021:p.Cys136Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C136R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1438	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.406T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391056	0.82902	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98283	1.0509	9	.	.	.	-4.1412	15.1019	0.72284	0.0:0.0:0.0:1.0	.	136	P60484	PTEN_HUMAN	R	136	ENSP00000361021:C136R	.	C	+	1	0	PTEN	89682902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TGT		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692922	T	C	89692922	3	2	26	1	0	0	0	0	1	0	0	0	12738	1464	51	4	424	4	PTEN	10	89692922	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	14488391	89692922	45841825	48	1689											
MMP21	118856	broad.mit.edu	37	chr10	127456157	127456157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtcataaaacgccgtgtCtaggggacttgggatgccag	9	9	14	9	3	2	0	1	0	1	0	3	2	2	2	2	4	2	0	2	4	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:127456157C>G	ENST00000368808.3	-	6	1353	c.1354G>C	c.(1354-1356)Gac>Cac	p.D452H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	452					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AACGCCGTGTCTAGGGGACTT	0.443																																						uc001liu.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1354-1356)Gac>Cac		Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.							158	151	153					10																	127456157		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127456157C>G	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1354G>C	10.37:g.127456157C>G	ENSP00000357798:p.Asp452His						p.D452H	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			5	1354	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	452			Hemopexin-like 3.		Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.1354G>C	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184547	0.57909	.	.	ENSG00000154485	ENST00000368808	T	0.08546	3.08	5.75	5.75	0.90469	Hemopexin/matrixin (2);	0.054567	0.64402	D	0.000001	T	0.33614	0.0869	M	0.90198	3.095	0.47621	D	0.999479	D	0.89917	1.0	D	0.78314	0.991	T	0.14839	-1.0458	10	0.87932	D	0	-2.8346	10.8128	0.46557	0.0:0.9145:0.0:0.0855	.	452	Q8N119	MMP21_HUMAN	H	452	ENSP00000357798:D452H	ENSP00000357798:D452H	D	-	1	0	MMP21	127446147	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	2.981000	0.49329	2.719000	0.93026	0.655000	0.94253	GAC		0.443	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			G	127456157	C	G	127456157	3	3	26	1	0	0	0	0	1	0	0	0	9660	913	32	5	363	5	MMP21	10	127456157	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	37763235	127456157	8078590	49	1690											
OR52E6	390078	broad.mit.edu	37	chr11	5862602	5862602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagtaagtatgagggaTgatacgatgtccacagaagg	14	8	12	7	1	1	3	1	2	0	1	2	5	2	4	1	2	1	2	1	2	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:5862602T>G	ENST00000329322.5	-	1	525	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	OR52E6_ENST00000379946.2_Missense_Mutation_p.I180L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATGAGGGATGATACGATGT	0.483																																						uc010qzq.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(526-528)Atc>Ctc		Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.							144	133	137					11																	5862602		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862602T>G	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.526A>C	11.37:g.5862602T>G	ENSP00000328878:p.Ile176Leu					TRIM5_uc001mbq.1_Intron	p.I176L	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	526	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	176					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.526A>C	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	T	9.635	1.137416	0.21123	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00188	8.59;8.59	3.45	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.105039	0.41712	N	0.000838	T	0.00241	0.0007	L	0.38733	1.17	0.09310	N	1	P	0.46706	0.883	P	0.52554	0.702	T	0.50800	-0.8785	10	0.52906	T	0.07	.	8.6471	0.34011	0.0:0.0:0.3717:0.6282	.	176	Q96RD3	O52E6_HUMAN	L	176;180	ENSP00000328878:I176L;ENSP00000369279:I180L	ENSP00000328878:I176L	I	-	1	0	OR52E6	5819178	0.124000	0.22315	0.007000	0.13788	0.027000	0.11550	0.771000	0.26633	0.392000	0.25172	-0.486000	0.04755	ATC		0.483	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		G	5862602	T	G	5862602	3	3	26	1	0	0	0	0	1	0	0	0	11117	1464	51	5	417	5	OR52E6	11	5862602	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		5862602	129143914	50	1691											
CD44	960	broad.mit.edu	37	chr11	35232846	35232846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatcattctgaaggctcaActactttactggaaggttat	13	13	7	8	0	3	1	2	1	1	0	3	2	3	2	0	3	3	2	0	3	7	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:35232846A>G	ENST00000428726.2	+	14	1783	c.1660A>G	c.(1660-1662)Act>Gct	p.T554A	CD44_ENST00000526669.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.T526A|CD44_ENST00000263398.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.T511A|CD44_ENST00000437706.2_Intron|RP1-68D18.2_ENST00000510619.2_RNA|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000433892.2_Missense_Mutation_p.T305A|CD44_ENST00000434472.2_Missense_Mutation_p.T241A|CD44_ENST00000415148.2_Missense_Mutation_p.T511A	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	554	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TGAAGGCTCAACTACTTTACT	0.463																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1660-1662)Act>Gct		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						218	202	207					11																	35232846		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35232846A>G	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1660A>G	11.37:g.35232846A>G	ENSP00000398632:p.Thr554Ala					CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.T511A|CD44_uc001mvw.3_Missense_Mutation_p.T305A|CD44_uc001mwc.4_Missense_Mutation_p.T241A|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.T82A|CD44_uc010res.2_Missense_Mutation_p.T118A|CD44_uc010ret.2_Non-coding_Transcript	p.T554A	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		13	2094	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	554			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1660A>G	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	A	7.346	0.621889	0.14193	.	.	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000526000;ENST00000533222;ENST00000528672	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.87	-4.19	0.03835	.	0.251647	0.33813	N	0.004536	T	0.11580	0.0282	N	0.12569	0.235	0.37470	D	0.915587	B;B;B;B	0.31435	0.323;0.021;0.006;0.004	B;B;B;B	0.28139	0.086;0.009;0.011;0.007	T	0.03278	-1.1053	10	0.44086	T	0.13	-9.7049	12.6786	0.56908	0.4732:0.0:0.5268:0.0	.	241;305;511;554	P16070-11;P16070-10;P16070-4;P16070	.;.;.;CD44_HUMAN	A	511;526;511;554;305;241;188;180;162	ENSP00000389830:T511A;ENSP00000414567:T526A;ENSP00000391008:T511A;ENSP00000398632:T554A;ENSP00000392331:T305A;ENSP00000404447:T241A;ENSP00000434465:T188A;ENSP00000435321:T180A;ENSP00000431860:T162A	ENSP00000389830:T511A	T	+	1	0	CD44	35189422	0.077000	0.21312	0.010000	0.14722	0.002000	0.02628	-0.455000	0.06762	-0.702000	0.05056	-0.250000	0.11733	ACT		0.463	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		G	35232846	A	G	35232846	3	3	26	1	0	0	0	0	1	0	0	0	3017	43	2	4	1714	4	CD44	11	35232846	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	29370244	35232846	99773670	51	1692											
SLC22A9	114571	broad.mit.edu	37	chr11	63149746	63149746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctccctcctgtcctttaCgaggtaagcttcatgcagtg	7	13	9	12	1	2	0	1	0	1	0	5	2	4	0	3	1	3	3	3	1	2	4	rs141060614		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:63149746C>T	ENST00000279178.3	+	6	1319	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	357					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGTCCTTTACGAGGTAAGCT	0.403																																						uc001nww.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1069-1071)aCg>aTg		Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.		C	MET/THR	2,4400	4.2+/-10.8	0,2,2199	174	142	153		1070	1.2	1	11	dbSNP_134	153	0,8596		0,0,4298	yes	missense	SLC22A9	NM_080866.2	81	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	357/554	63149746	2,12996	2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63149746C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1070C>T	11.37:g.63149746C>T	ENSP00000279178:p.Thr357Met					SLC22A9_uc001nwx.3_Non-coding_Transcript	p.T357M	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			5	1338	+			357					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1070C>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154507	0.21371	4.54E-4	0.0	ENSG00000149742	ENST00000279178	T	0.58652	0.32	3.53	1.23	0.21249	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.610238	0.16862	N	0.196494	T	0.25121	0.0610	N	0.01874	-0.695	0.80722	D	1	B	0.17667	0.023	B	0.04013	0.001	T	0.04191	-1.0970	10	0.45353	T	0.12	.	4.6568	0.12622	0.0:0.2788:0.0:0.7212	.	357	Q8IVM8	S22A9_HUMAN	M	357	ENSP00000279178:T357M	ENSP00000279178:T357M	T	+	2	0	SLC22A9	62906322	0.980000	0.34600	0.980000	0.43619	0.336000	0.28762	0.032000	0.13732	0.589000	0.29677	0.134000	0.15878	ACG		0.403	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		T	63149746	C	T	63149746	3	4	26	1	0	0	0	0	1	0	0	0	14461	536	19	1	1092	1	SLC22A9	11	63149746	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	27916900	63149746	71856770	52	1693											
HTR3A	3359	broad.mit.edu	37	chr11	113853886	113853886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcccgtacgtgtatattcGgcatcaaggcgaagttcaga	11	11	10	9	4	2	1	2	0	0	1	4	2	3	1	1	2	1	4	1	2	6	6	rs149715642		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:113853886G>A	ENST00000504030.2	+	5	864	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	HTR3A_ENST00000506841.2_Missense_Mutation_p.R140Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R125Q|HTR3A_ENST00000375498.2_Missense_Mutation_p.R146Q|HTR3A_ENST00000355556.2_Missense_Mutation_p.R146Q|HTR3A_ENST00000535865.1_5'UTR			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	140					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GTGTATATTCGGCATCAAGGC	0.542																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(436-438)cGg>cAg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	A	GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	170	149	156		437,374,437	-6.1	0	11	dbSNP_134	156	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	43,43,43	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	146/485,125/464,146/517	113853886	2,12992	2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853886G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.419G>A	11.37:g.113853886G>A	ENSP00000424189:p.Arg140Gln					HTR3A_uc010rxa.2_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R125Q	p.R146Q	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	4	670	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	140					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.437G>A		.	.	.	.	.	.	.	.	.	.	g	7.345	0.621751	0.14193	0.0	2.33E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.39	-6.09	0.02145	.	0.794818	0.11956	N	0.513270	T	0.58163	0.2103	L	0.33137	0.985	0.09310	N	0.999998	B;B;B	0.15473	0.001;0.013;0.006	B;B;B	0.12156	0.004;0.005;0.007	T	0.36792	-0.9733	10	0.32370	T	0.25	-6.0738	4.9325	0.13925	0.5324:0.0933:0.2798:0.0944	.	125;146;146	B4DSY6;G5E986;Q7KZM7	.;.;.	Q	140;146;146;140;125	ENSP00000424189:R140Q;ENSP00000347754:R146Q;ENSP00000364648:R146Q;ENSP00000424776:R140Q;ENSP00000299961:R125Q	ENSP00000299961:R125Q	R	+	2	0	HTR3A	113359096	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.240000	0.08952	-1.663000	0.01481	-2.091000	0.00372	CGG		0.542	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113853886	G	A	113853886	3	1	26	1	0	0	0	0	1	0	0	0	7444	1116	39	2	481	2	HTR3A	11	113853886	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	50704140	113853886	21152630	53	1694											
CACNA1C	775	broad.mit.edu	37	chr12	2566754	2566754	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttagtgcaattttagaAcaagcaaccaaagcagatgg	15	11	8	7	0	0	2	0	0	0	2	0	2	0	2	1	1	5	3	1	1	7	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:2566754A>G	ENST00000347598.4	+	5	639	c.639A>G	c.(637-639)gaA>gaG	p.E213E	CACNA1C_ENST00000399606.1_Silent_p.E213E|CACNA1C_ENST00000399629.1_Silent_p.E213E|CACNA1C_ENST00000344100.3_Silent_p.E213E|CACNA1C_ENST00000399655.1_Silent_p.E213E|CACNA1C_ENST00000399617.1_Silent_p.E213E|CACNA1C_ENST00000399641.1_Silent_p.E213E|CACNA1C_ENST00000399634.1_Silent_p.E213E|CACNA1C_ENST00000399638.1_Silent_p.E213E|CACNA1C_ENST00000327702.7_Silent_p.E213E|CACNA1C_ENST00000399649.1_Silent_p.E213E|CACNA1C_ENST00000399597.1_Silent_p.E213E|CACNA1C_ENST00000402845.3_Silent_p.E213E|CACNA1C_ENST00000480911.1_Silent_p.E213E|CACNA1C_ENST00000399644.1_Silent_p.E213E|CACNA1C_ENST00000406454.3_Silent_p.E213E|CACNA1C_ENST00000399621.1_Silent_p.E213E|CACNA1C_ENST00000335762.5_Silent_p.E213E|CACNA1C_ENST00000399637.1_Silent_p.E213E|CACNA1C_ENST00000399595.1_Silent_p.E213E|CACNA1C_ENST00000399603.1_Silent_p.E213E|CACNA1C_ENST00000399591.1_Silent_p.E213E|CACNA1C_ENST00000399601.1_Silent_p.E213E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	213					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAATTTTAGAACAAGCAACCA	0.557																																						uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(637-639)gaA>gaG		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						102	111	108					12																	2566754		1929	4124	6053	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566754A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.639A>G	12.37:g.2566754A>G						CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkj.2_Silent_p.E213E|CACNA1C_uc001qkk.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qkm.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	p.E213E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	4	952	+			213					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.639A>G	CCDS44788.1																																																																																				0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		G	2566754	A	G	2566754	2	3	26	1	0	0	0	0	0	0	0	1	2540	40	2	4		4	CACNA1C	12	2566754	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08		2566754	131285141	54	1695											
PPFIBP1	8496	broad.mit.edu	37	chr12	27809558	27809558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaacttgtaggatgaactgGcatctttaaaagaacaacta	16	11	8	6	0	1	2	0	1	1	1	1	3	1	3	0	2	4	3	0	2	8	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:27809558G>A	ENST00000318304.8	+	10	1082	c.799G>A	c.(799-801)Gca>Aca	p.A267T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A236T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A236T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A114T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	267					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGATGAACTGGCATCTTTAAA	0.323																																						uc001ric.2																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(799-801)Gca>Aca		Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.							61	64	63					12																	27809558		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27809558G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.799G>A	12.37:g.27809558G>A	ENSP00000314724:p.Ala267Thr					PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	p.A267T	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN			9	1176	+	Lung SC(9;0.0873)		267					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.799G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048932	0.36181	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.35236	2.57;1.32;1.34;1.77;2.57;1.78	5.05	1.06	0.20224	.	0.487974	0.15228	N	0.273590	T	0.26195	0.0639	L	0.55990	1.75	0.34361	D	0.690976	B;B;B;B	0.11235	0.004;0.001;0.004;0.001	B;B;B;B	0.16289	0.015;0.003;0.011;0.007	T	0.22661	-1.0210	10	0.13853	T	0.58	-9.1294	4.6359	0.12525	0.2339:0.0:0.5043:0.2618	.	114;267;236;236	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	T	238;236;95;114;267;236;236	ENSP00000445822:A236T;ENSP00000444304:A95T;ENSP00000445425:A114T;ENSP00000314724:A267T;ENSP00000443442:A236T;ENSP00000228425:A236T	ENSP00000228425:A236T	A	+	1	0	PPFIBP1	27700825	0.994000	0.37717	0.997000	0.53966	0.916000	0.54674	0.374000	0.20501	0.241000	0.21283	0.655000	0.94253	GCA		0.323	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		A	27809558	G	A	27809558	3	1	26	1	0	0	0	0	1	0	0	0	12313	1203	42	3	774	3	PPFIBP1	12	27809558	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	25242804	27809558	106042337	55	1696											
MDM2	4193	broad.mit.edu	37	chr12	69210697	69210697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggagatttgtttggcGtgccaagcttctctgtgaaa	8	15	11	7	1	2	2	0	1	2	1	3	3	2	2	1	2	2	2	1	2	3	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:69210697G>A	ENST00000350057.5	+	2	187	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	MDM2_ENST00000258149.5_Missense_Mutation_p.V88M|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.V94M|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V94M|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000360430.2_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	88	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTTGGCGTGCCAAGCTT	0.363			A		"sarcoma, glioma, colorectal, other"																																	uc021rad.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19								Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.							98	92	93					12																	69210697		1843	4087	5930	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69210697G>A		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.187G>A	12.37:g.69210697G>A	ENSP00000266624:p.Val63Met					MDM2_uc001sui.3_Missense_Mutation_p.V94M|MDM2_uc009zqx.3_Missense_Mutation_p.V94M|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc021rae.1_Missense_Mutation_p.V83M|MDM2_uc001sun.4_Intron|MDM2_uc009zra.3_Intron|MDM2_uc009zrb.1_Non-coding_Transcript|MDM2_uc021raf.1_Intron|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Intron|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Intron|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.V58M|MDM2_uc021rai.1_Intron|MDM2_uc021raj.1_Intron				Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)				+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)							A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37			.	.	.	.	.	.	.	.	.	.	G	20.3	3.962862	0.74016	.	.	ENSG00000135679	ENST00000462284;ENST00000258149;ENST00000311440;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T;T;T	0.55760	1.08;0.56;0.55;0.5;1.09	5.22	5.22	0.72569	SWIB/MDM2 domain (2);	0.058241	0.64402	D	0.000002	T	0.72882	0.3516	M	0.74881	2.28	0.80722	D	1	D;P;D;D	0.89917	0.988;0.942;0.998;1.0	P;P;D;D	0.77004	0.751;0.783;0.913;0.989	T	0.72427	-0.4297	9	.	.	.	4.3846	18.424	0.90602	0.0:0.0:1.0:0.0	.	88;94;88;94	Q00987;G3XA89;Q8NDW2;Q00987-11	MDM2_HUMAN;.;.;.	M	94;88;88;94;88;88;119;63	ENSP00000417281:V94M;ENSP00000258149:V88M;ENSP00000258148:V94M;ENSP00000444430:V88M;ENSP00000266624:V63M	.	V	+	1	0	MDM2	67496964	1.000000	0.71417	0.773000	0.31616	0.420000	0.31355	8.356000	0.90085	2.817000	0.96982	0.563000	0.77884	GTG		0.363	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		A	69210697	G	A	69210697	3	1	26	1	0	0	0	0	1	0	0	0	9413	1145	40	1	294	1	MDM2	12	69210697	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	41401139	69210697	64641198	56	1697											
TPH2	121278	broad.mit.edu	37	chr12	72366329	72366329	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccagggtggagtatacTgaagaagaaactaaaacttg	16	9	10	6	0	0	3	0	1	0	2	1	4	1	4	1	2	3	1	1	2	7	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:72366329T>A	ENST00000333850.3	+	6	780	c.639T>A	c.(637-639)acT>acA	p.T213T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	213					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGGAGTATACTGAAGAAGAAA	0.428																																						uc009zrw.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(637-639)acT>acA		Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	L-Tryptophan(DB00150)						206	221	216					12																	72366329		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72366329T>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.639T>A	12.37:g.72366329T>A						TPH2_uc001swy.2_Silent_p.T123T	p.T213T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			5	780	+			213					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.639T>A	CCDS31859.1																																																																																				0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		A	72366329	T	A	72366329	2	1	26	1	0	0	0	0	0	0	0	1	16399	1567	55	5		5	TPH2	12	72366329	Silent	SNP	T	TCGA-06-0155-01B-01D-1492-08	3155632	72366329	61485566	57	1698											
MYF5	4617	broad.mit.edu	37	chr12	81111228	81111228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcaggaatgccatccGctacatcgagagcctgcagg	10	7	11	13	2	1	1	1	0	0	1	4	4	3	2	4	2	4	2	4	2	2	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:81111228G>A	ENST00000228644.3	+	1	538	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	129	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATGCCATCCGCTACATCGAG	0.587																																						uc001szg.2																			0		p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(385-387)cGc>cAc		Homo sapiens myogenic factor 5 (MYF5), mRNA.							92	91	92					12																	81111228		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111228G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.386G>A	12.37:g.81111228G>A	ENSP00000228644:p.Arg129His						p.R129H	NM_005593	NP_005584	P13349	MYF5_HUMAN			0	521	+			129			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.386G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999688	0.54147	.	.	ENSG00000111049	ENST00000228644	D	0.97994	-4.65	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.103424	0.64402	D	0.000004	D	0.95059	0.8400	L	0.37507	1.11	0.38444	D	0.946788	B	0.30511	0.282	B	0.28784	0.094	D	0.93810	0.7109	10	0.54805	T	0.06	-7.3133	13.7717	0.63029	0.0697:0.0:0.9303:0.0	.	129	P13349	MYF5_HUMAN	H	129	ENSP00000228644:R129H	ENSP00000228644:R129H	R	+	2	0	MYF5	79635359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.858000	0.69532	2.882000	0.98803	0.655000	0.94253	CGC		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		A	81111228	G	A	81111228	3	1	26	1	0	0	0	0	1	0	0	0	10027	1087	38	1	388	1	MYF5	12	81111228	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	8744899	81111228	52740667	58	1699											
STAB2	55576	broad.mit.edu	37	chr12	104089589	104089589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaacaatgccatcgaGaattacatcagggagaagaa	19	5	8	9	1	1	3	1	0	0	3	2	5	1	3	2	1	4	0	2	1	7	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:104089589G>T	ENST00000388887.2	+	33	3753	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCCATCGAGAATTACATCA	0.403																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3547-3549)gaG>gaT		Homo sapiens stabilin 2 (STAB2), mRNA.							111	109	110					12																	104089589		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089589G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3549G>T	12.37:g.104089589G>T	ENSP00000373539:p.Glu1183Asp						p.E1183D	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			32	3735	+			1183			FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3549G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801215	0.50315	.	.	ENSG00000136011	ENST00000388887	D	0.90385	-2.66	6.17	5.28	0.74379	FAS1 domain (5);Growth factor, receptor (1);	0.752143	0.12999	N	0.421788	D	0.85873	0.5798	L	0.42581	1.335	0.24338	N	0.99498	B	0.27910	0.193	B	0.31442	0.13	T	0.74134	-0.3763	10	0.22109	T	0.4	.	7.1991	0.25871	0.1584:0.1423:0.6993:0.0	.	1183	Q8WWQ8	STAB2_HUMAN	D	1183	ENSP00000373539:E1183D	ENSP00000373539:E1183D	E	+	3	2	STAB2	102613719	0.999000	0.42202	0.984000	0.44739	0.801000	0.45260	1.857000	0.39399	1.598000	0.50083	0.655000	0.94253	GAG		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104089589	G	T	104089589	3	4	26	1	0	0	0	0	1	0	0	0	15237	933	33	5	3679	5	STAB2	12	104089589	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	22978361	104089589	29762306	59	1700											
LHX5	64211	broad.mit.edu	37	chr12	113905175	113905175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctccgggcgcctagggCgctcagctgtttcatccggc	3	9	14	15	4	2	0	2	0	0	0	4	0	4	0	4	3	2	3	4	3	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:113905175C>T	ENST00000261731.3	-	4	1300	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	243					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGCCTAGGGCGCTCAGCTGT	0.652																																						uc001tvj.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(727-729)Gcc>Acc		Homo sapiens LIM homeobox 5 (LHX5), mRNA.							20	21	21					12																	113905175		2198	4296	6494	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113905175C>T	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.727G>A	12.37:g.113905175C>T	ENSP00000261731:p.Ala243Thr						p.A243T	NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN			3	1301	-			243					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.727G>A	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136221	0.77662	.	.	ENSG00000089116	ENST00000261731	D	0.91521	-2.86	4.84	3.92	0.45320	.	0.000000	0.52532	D	0.000069	D	0.85336	0.5673	L	0.35487	1.065	0.80722	D	1	B	0.23806	0.091	B	0.15870	0.014	T	0.81536	-0.0888	10	0.56958	D	0.05	.	14.4493	0.67374	0.0:0.8513:0.1487:0.0	.	243	Q9H2C1	LHX5_HUMAN	T	243	ENSP00000261731:A243T	ENSP00000261731:A243T	A	-	1	0	LHX5	112389558	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	7.668000	0.83897	0.977000	0.38444	0.561000	0.74099	GCC		0.652	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		T	113905175	C	T	113905175	3	4	26	1	0	0	0	0	1	0	0	0	8774	768	27	1	489	1	LHX5	12	113905175	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	9815586	113905175	19946720	60	1701											
RIMBP2	23504	broad.mit.edu	37	chr12	130927111	130927111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagttctgatcctgctcGttccccagcgtgcttgccaa	7	12	9	13	2	1	2	0	2	1	0	4	2	3	2	4	0	4	4	4	0	2	3	rs142303116	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:130927111G>A	ENST00000261655.4	-	8	898	c.735C>T	c.(733-735)aaC>aaT	p.N245N	RIMBP2_ENST00000536002.1_Silent_p.N153N|RIMBP2_ENST00000535703.1_Silent_p.N153N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	245					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GATCCTGCTCGTTCCCCAGCG	0.602													G|||	3	0.000599042	8e-04	0	5008	,	,		18310	0.002		0	False		,,,				2504	0					uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(733-735)aaC>aaT		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.		G		5,4401	11.4+/-27.6	0,5,2198	168	161	163		735	-9.1	0	12	dbSNP_134	163	0,8600		0,0,4300	no	coding-synonymous	RIMBP2	NM_015347.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		245/1053	130927111	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927111G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.735C>T	12.37:g.130927111G>A						RIMBP2_uc001uim.3_Silent_p.N153N	p.N245N	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	7	951	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	245					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.735C>T	CCDS31925.1																																																																																				0.602	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130927111	G	A	130927111	2	1	26	1	0	0	0	0	0	0	0	1	13363	1136	40	1		1	RIMBP2	12	130927111	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	17021936	130927111	2924784	61	1702											
COG6	57511	broad.mit.edu	37	chr13	40293942	40293942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaattcactgacagacGtctggaaatgctacagtttc	12	13	8	8	1	2	3	1	2	1	1	3	4	2	4	0	1	2	2	0	1	3	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr13:40293942G>A	ENST00000455146.3	+	15	1612	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	COG6_ENST00000416691.1_Missense_Mutation_p.R521H	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	521					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACTGACAGACGTCTGGAAATG	0.343																																						uc001uxh.2																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1561-1563)cGt>cAt		Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.							78	75	76					13																	40293942		2203	4300	6503	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40293942G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1562G>A	13.37:g.40293942G>A	ENSP00000397441:p.Arg521His					COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	p.R521H	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	14	1662	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	521					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1562G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394961	0.62066	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.55588	0.51;0.51	5.36	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.48174	1.505	0.80722	D	1	P;B	0.38729	0.644;0.35	B;B	0.34489	0.139;0.184	T	0.27262	-1.0079	10	0.20046	T	0.44	-10.4231	13.4047	0.60906	0.0758:0.0:0.9242:0.0	.	542;521	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	H	521;552;521	ENSP00000403733:R521H;ENSP00000397441:R521H	ENSP00000255468:R552H	R	+	2	0	COG6	39191942	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	9.201000	0.95017	1.395000	0.46643	0.655000	0.94253	CGT		0.343	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			A	40293942	G	A	40293942	3	1	26	1	0	0	0	0	1	0	0	0	3662	1145	40	1	1620	1	COG6	13	40293942	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		40293942	74875936	62	1703											
FANCM	57697	broad.mit.edu	37	chr14	45657010	45657010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagagctatttacatgAaatctttgcgtagtccaatg	14	13	8	6	1	1	2	0	2	1	1	2	3	2	2	1	0	3	2	1	0	6	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:45657010A>G	ENST00000267430.5	+	19	4784	c.4699A>G	c.(4699-4701)Aaa>Gaa	p.K1567E	FANCM_ENST00000542564.2_Missense_Mutation_p.K1541E|FANCM_ENST00000555013.1_3'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1567					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTTACATGAAATCTTTGCG	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(4699-4701)Aaa>Gaa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							51	51	51					14																	45657010		2202	4297	6499	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45657010A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4699A>G	14.37:g.45657010A>G	ENSP00000267430:p.Lys1567Glu					FANCM_uc010anf.3_Missense_Mutation_p.K1541E|FANCM_uc001wwe.4_Missense_Mutation_p.K1103E|FANCM_uc010ang.3_Missense_Mutation_p.K781E	p.K1567E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			18	4798	+			1567					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4699A>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.94|19.94	3.919472|3.919472	0.73098|0.73098	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.79554	.|-1.28;-1.28;-1.28	5.22|5.22	4.01|4.01	0.46588|0.46588	.|.	.|0.053585	.|0.64402	.|D	.|0.000001	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.76002|0.76002	2.32|2.32	0.33936|0.33936	D|D	0.642639|0.642639	.|D;D	.|0.58620	.|0.983;0.983	.|P;P	.|0.51016	.|0.656;0.556	D|D	0.90020|0.90020	0.4127|0.4127	5|10	.|0.72032	.|D	.|0.01	.|.	12.4145|12.4145	0.55486|0.55486	0.8503:0.1497:0.0:0.0|0.8503:0.1497:0.0:0.0	.|.	.|1541;1567	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	G|E	499|1567;1541;1083	.|ENSP00000267430:K1567E;ENSP00000442493:K1541E;ENSP00000452033:K1083E	.|ENSP00000267430:K1567E	E|K	+|+	2|1	0|0	FANCM|FANCM	44726760|44726760	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.754000|4.754000	0.62191|0.62191	1.980000|1.980000	0.57719|0.57719	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.254	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		G	45657010	A	G	45657010	3	3	26	1	0	0	0	0	1	0	0	0	5671	247	9	4	4773	4	FANCM	14	45657010	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		45657010	61692530	63	1704											
TBPL2	387332	broad.mit.edu	37	chr14	55907173	55907173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctgctccatggaccGtaatcccactgttgggggtg	5	11	11	14	1	0	0	0	0	0	0	4	1	4	1	5	3	1	3	5	3	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:55907173G>A	ENST00000247219.5	-	1	161	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCCATGGACCGTAATCCCACT	0.657																																						uc001xby.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(91-93)Cgg>Tgg		Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.							38	40	39					14																	55907173		2167	4254	6421	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55907173G>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.91C>T	14.37:g.55907173G>A	ENSP00000247219:p.Arg31Trp						p.R31W	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			0	91	-			31		R -> P (in dbSNP:rs8019270).				Missense_Mutation	SNP	ENST00000247219.5	37	c.91C>T	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219142	0.22373	.	.	ENSG00000182521	ENST00000247219	T	0.48201	0.82	3.12	0.0867	0.14447	.	1.197560	0.06202	N	0.683464	T	0.25680	0.0625	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	10	0.62326	D	0.03	8.6782	3.3652	0.07201	0.4079:0.2083:0.3839:0.0	.	31	Q6SJ96	TBPL2_HUMAN	W	31	ENSP00000247219:R31W	ENSP00000247219:R31W	R	-	1	2	TBPL2	54976926	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.695000	0.25527	0.020000	0.15106	-0.379000	0.06801	CGG		0.657	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		A	55907173	G	A	55907173	3	1	26	1	0	0	0	0	1	0	0	0	15643	1144	40	1	1064	1	TBPL2	14	55907173	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	10250163	55907173	51442367	64	1705											
EHD4	30844	broad.mit.edu	37	chr15	42193062	42193062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatctccttcttggcGttgacacctgatatcttgcc	6	14	7	14	1	4	2	1	2	3	0	5	2	4	2	4	1	1	1	4	1	1	5	rs201800565		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:42193062G>A	ENST00000220325.4	-	6	1490	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	469	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592																																						uc001zot.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1405-1407)aaC>aaT		Homo sapiens EH-domain containing 4 (EHD4), mRNA.							91	74	80					15																	42193062		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193062G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1407C>T	15.37:g.42193062G>A							p.N469N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	469			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1407C>T	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		A	42193062	G	A	42193062	2	1	26	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08		42193062	60338330	65	1706											
RAB11FIP3	9727	broad.mit.edu	37	chr16	553082	553082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggagggcccagaggaGgacattgctgacaaggtagg	11	6	16	8	0	1	2	1	1	0	1	1	5	1	5	1	6	1	2	1	6	2	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:553082G>A	ENST00000262305.4	+	7	1768	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	RAB11FIP3_ENST00000457159.1_Silent_p.E505E|RAB11FIP3_ENST00000450428.1_Silent_p.E164E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	460					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCCCAGAGGAGGACATTGCTG	0.622																																					Melanoma(160;2366 2595 4474 8099)	uc002chf.3																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1378-1380)gaG>gaA		Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.							66	67	67					16																	553082		2201	4300	6501	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:553082G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1380G>A	16.37:g.553082G>A						RAB11FIP3_uc010uuf.2_Silent_p.E164E|RAB11FIP3_uc010uug.2_Silent_p.E195E	p.E460E	NM_014700	NP_055515	O75154	RFIP3_HUMAN			6	1719	+		Hepatocellular(16;0.0218)	460					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.1380G>A	CCDS32351.1																																																																																				0.622	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		A	553082	G	A	553082	2	1	26	1	0	0	0	0	0	0	0	1	12895	991	35	3		3	RAB11FIP3	16	553082	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08		553082	89801671	66	1707											
SCNN1G	6340	broad.mit.edu	37	chr16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctatcattgcccgccGccagtggcagaaagccaagg	9	8	10	14	2	2	1	1	0	1	1	3	1	2	1	4	2	2	1	4	2	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:23226531G>A	ENST00000300061.2	+	13	1834	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	564					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.R564H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587																																						uc002dlm.1																			1	Substitution - Missense(1)	p.R564H(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1690-1692)cGc>cAc		Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						92	87	89					16																	23226531		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226531G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1691G>A	16.37:g.23226531G>A	ENSP00000300061:p.Arg564His						p.R564H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	12	1830	+			564					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1691G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	5.103	0.204701	0.09704	.	.	ENSG00000166828	ENST00000300061	T	0.73575	-0.76	5.22	-0.291	0.12843	.	0.550372	0.18016	N	0.154418	T	0.48892	0.1525	N	0.08118	0	0.18873	N	0.999981	B	0.11235	0.004	B	0.06405	0.002	T	0.28235	-1.0050	10	0.15499	T	0.54	-39.1964	10.5884	0.45296	0.4739:0.0:0.5261:0.0	.	564	P51170	SCNNG_HUMAN	H	564	ENSP00000300061:R564H	ENSP00000300061:R564H	R	+	2	0	SCNN1G	23134032	0.000000	0.05858	0.161000	0.22692	0.615000	0.37417	-0.164000	0.09983	-0.292000	0.08999	-0.258000	0.10820	CGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		A	23226531	G	A	23226531	3	1	26	1	0	0	0	0	1	0	0	0	13930	1087	38	1	1737	1	SCNN1G	16	23226531	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	22673449	23226531	67128222	67	1708											
CES1	1066	broad.mit.edu	37	chr16	55853460	55853460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctaccattttcaatgtcGtctccaagagctcctcttcc	9	13	4	15	1	3	1	1	0	2	1	7	1	5	1	5	0	3	1	5	0	4	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:55853460G>A	ENST00000361503.4	-	7	1020	c.890C>T	c.(889-891)aCg>aTg	p.T297M	CES1_ENST00000422046.2_Missense_Mutation_p.T297M|CES1_ENST00000360526.3_Missense_Mutation_p.T298M|CES1_ENST00000566555.1_5'Flank			P23141	EST1_HUMAN	carboxylesterase 1	297					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTTCAATGTCGTCTCCAAGAG	0.507																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.3																			0											c.(889-891)aCg>aTg		Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						127	128	128					16																	55853460		2198	4298	6496	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55853460G>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.890C>T	16.37:g.55853460G>A	ENSP00000355193:p.Thr297Met					CES1_uc002eil.3_Missense_Mutation_p.T298M|CES1_uc002ein.3_Missense_Mutation_p.T297M	p.T297M	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	6	998	-			297					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.890C>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.132242	0.37630	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.67865	-0.29;-0.29;-0.29	3.81	-5.55	0.02536	Carboxylesterase, type B (1);	3.712570	0.00751	N	0.001060	T	0.76807	0.4039	L	0.58302	1.8	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.969	T	0.72141	-0.4380	10	0.54805	T	0.06	.	10.3861	0.44140	0.5725:0.0:0.4275:0.0	.	297;297;298	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	M	298;297;297;162	ENSP00000353720:T298M;ENSP00000355193:T297M;ENSP00000390492:T297M	ENSP00000353720:T298M	T	-	2	0	CES1	54410961	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.223000	0.02962	-1.286000	0.02384	0.456000	0.33151	ACG		0.507	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55853460	G	A	55853460	3	1	26	1	0	0	0	0	1	0	0	0	3269	1145	40	1	845	1	CES1	16	55853460	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	32626929	55853460	34501293	68	1709											
CES8	283848	broad.mit.edu	37	chr16	67040719	67040719	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaactttgcccgcacaGggtgagtctgccccccagca	7	6	12	16	1	1	1	0	1	1	0	1	1	1	1	5	2	4	2	5	2	1	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:67040719G>A	ENST00000326686.5	+	13	1516	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	CES4A_ENST00000540947.2_Intron|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000541479.1_Splice_Site_p.G459R|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000398354.1_Splice_Site_p.G436R|CES4A_ENST00000540579.1_Splice_Site_p.G408R|CES4A_ENST00000535696.1_Intron			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	506						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGCCCGCACAGGGTGAGTCTG	0.567																																						uc002eqv.3																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.e11+1		Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.							79	83	82					16																	67040719		2041	4209	6250	SO:0001630	splice_region_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67040719G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1517+1G>A	16.37:g.67040719G>A						CES4A_uc010vix.2_Intron|CES4A_uc002eqw.3_Intron|CES4A_uc010viy.2_Intron|CES4A_uc002eqx.3_Splice_Site_p.G312_splice|CES4A_uc002eqy.3_Splice_Site_p.G408_splice	p.G459_splice	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN			11	1491	+			506					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1376_splice		.	.	.	.	.	.	.	.	.	.	G	21.9	4.218678	0.79464	.	.	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.41	4.45	0.53987	.	0.000000	0.40728	U	0.001026	D	0.89033	0.6600	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91031	0.4864	10	0.87932	D	0	.	11.9119	0.52743	0.086:0.0:0.914:0.0	.	459	F5H5S4	.	R	459;436;506;399;408	ENSP00000443175:G459R;ENSP00000381397:G436R;ENSP00000314145:G506R;ENSP00000441103:G399R;ENSP00000441907:G408R	ENSP00000314145:G506R	G	+	1	0	CES4A	65598220	1.000000	0.71417	0.983000	0.44433	0.790000	0.44656	7.622000	0.83099	1.264000	0.44198	0.591000	0.81541	GGA		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	Missense_Mutation	A	67040719	G	A	67040719	5	1	26	1	0	0	0	0	0	0	1	0	3273	1014	35	3	1647	3	CES8	16	67040719	Splice_Site	SNP	G	TCGA-06-0155-01B-01D-1492-08	11187259	67040719	23314034	69	1710											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						uc021twy.1																			2	Substitution - Missense(2)	p.R79H(3)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.3_Missense_Mutation_p.R79H|THRA_uc002htw.3_Missense_Mutation_p.R79H|THRA_uc002htx.3_Missense_Mutation_p.R79H	p.R79H	NM_001190919	NP_003241	P10827	THA_HUMAN			4	792	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			A	38240101	G	A	38240101	3	1	26	1	0	0	0	0	1	0	0	0	15870	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		38240101	42955109	70	1711											
ASPSCR1	79058	broad.mit.edu	37	chr17	79953896	79953896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgccctgcggggcaCgacgctgcagtcgctgggcc	5	6	16	14	4	0	1	0	1	0	0	1	2	0	1	2	3	4	5	2	3	1	0	rs372730667		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:79953896C>T	ENST00000306739.4	+	6	558	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.T154M|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.T77M	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	154					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCGGGGCACGACGCTGCAG	0.657			T	TFE3	alveolar soft part sarcoma																																	uc002kcy.3				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(460-462)aCg>aTg		Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.		C	MET/THR	0,4402		0,0,2201	21	24	23		461	3.5	0.2	17		23	1,8591		0,1,4295	no	missense	ASPSCR1	NM_024083.2	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	154/554	79953896	1,12993	2201	4296	6497	SO:0001583	missense	79058						protein binding	g.chr17:79953896C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.461C>T	17.37:g.79953896C>T	ENSP00000302176:p.Thr154Met					ASPSCR1_uc002kcx.3_Missense_Mutation_p.T154M|ASPSCR1_uc021ufj.1_Missense_Mutation_p.T77M|ASPSCR1_uc002kda.3_Missense_Mutation_p.T77M|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T77M	p.T154M	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	558	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		154					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.461C>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	3.093	-0.186454	0.06340	0.0	1.16E-4	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.33216	1.42;1.42	4.46	3.49	0.39957	.	0.155306	0.64402	N	0.000019	T	0.54967	0.1891	M	0.86028	2.79	0.25974	N	0.982466	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.996;0.998	T	0.47983	-0.9074	10	0.56958	D	0.05	-20.3836	8.7718	0.34737	0.0:0.8956:0.0:0.1044	.	77;77;154;154;77	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	M	154;154;77	ENSP00000302176:T154M;ENSP00000306625:T154M	ENSP00000306625:T154M	T	+	2	0	ASPSCR1	77547185	0.917000	0.31117	0.221000	0.23827	0.001000	0.01503	2.107000	0.41844	1.240000	0.43803	-0.224000	0.12420	ACG		0.657	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		T	79953896	C	T	79953896	3	4	26	1	0	0	0	0	1	0	0	0	1059	536	19	1	483	1	ASPSCR1	17	79953896	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	41713795	79953896	1241314	71	1712											
MIB1	57534	broad.mit.edu	37	chr18	19345780	19345780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacctgccgccagcaaccaAtcattggcattcgatggaag	12	8	9	12	2	1	0	1	0	0	0	2	2	1	1	4	2	4	2	4	2	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:19345780A>G	ENST00000261537.6	+	2	541	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	93					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCAGCAACCAATCATTGGCAT	0.378																																						uc002ktq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(277-279)Atc>Gtc		Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.							143	128	133					18																	19345780		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345780A>G	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.277A>G	18.37:g.19345780A>G	ENSP00000261537:p.Ile93Val					MIB1_uc002ktp.3_5'UTR	p.I93V	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		1	277	+			93					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.277A>G	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.788209	0.70337	.	.	ENSG00000101752	ENST00000261537	D	0.90324	-2.65	5.79	5.79	0.91817	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.93035	0.7783	M	0.71206	2.165	0.58432	D	0.999999	B	0.25441	0.126	B	0.42555	0.391	D	0.92058	0.5654	10	0.87932	D	0	-4.5359	16.1113	0.81266	1.0:0.0:0.0:0.0	.	93	Q86YT6	MIB1_HUMAN	V	93	ENSP00000261537:I93V	ENSP00000261537:I93V	I	+	1	0	MIB1	17599778	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.008000	0.93601	2.213000	0.71641	0.482000	0.46254	ATC		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		G	19345780	A	G	19345780	3	3	26	1	0	0	0	0	1	0	0	0	9566	101	4	4	283	4	MIB1	18	19345780	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		19345780	58731468	72	1713											
LMAN1	3998	broad.mit.edu	37	chr18	57022801	57022801	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaacttcccagttctCaaaggccgcttttgtctttg	7	14	6	14	1	3	0	2	0	2	0	5	0	4	0	3	1	1	2	3	1	2	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:57022801C>A	ENST00000251047.5	-	2	1021	c.304G>T	c.(304-306)Gag>Tag	p.E102*		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	102	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCCCAGTTCTCAAAGGCCGCT	0.413																																						uc002lhz.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(304-306)Gag>Tag		Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	Antihemophilic Factor(DB00025)						129	107	114					18																	57022801		2203	4300	6503	SO:0001587	stop_gained	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57022801C>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.304G>T	18.37:g.57022801C>A	ENSP00000251047:p.Glu102*					LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	p.E102*	NM_005570	NP_005561	P49257	LMAN1_HUMAN			1	336	-		Colorectal(73;0.0946)	102			L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Nonsense_Mutation	SNP	ENST00000251047.5	37	c.304G>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.786879	0.96937	.	.	ENSG00000074695	ENST00000251047	.	.	.	5.63	5.63	0.86233	.	0.165885	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-26.9272	14.8644	0.70404	0.0:0.8568:0.1432:0.0	.	.	.	.	X	102	.	ENSP00000251047:E102X	E	-	1	0	LMAN1	55173781	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.730000	0.55006	2.652000	0.90054	0.655000	0.94253	GAG		0.413	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		A	57022801	C	A	57022801	4	1	26	1	0	0	0	0	0	1	0	0	8836	835	29	5	1276	5	LMAN1	18	57022801	Nonsense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	37677021	57022801	21054447	73	1714											
MUM1	84939	broad.mit.edu	37	chr19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttaaatgtaggttttggCccgaaccgcgacttcaacaa	11	12	9	9	3	1	0	1	0	0	0	1	2	1	0	2	2	2	3	2	2	6	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000344663.3_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000591806.1_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368																																						uc002lrz.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)gCc>gTc		Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.							116	109	112					19																	1357015		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357015C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val					MUM1_uc010dsi.2_5'UTR|MUM1_uc002lsb.2_5'UTR|MUM1_uc010xgm.1_Missense_Mutation_p.A22V|MUM1_uc002lsc.1_5'Flank	p.A23V	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	178	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	22					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC		0.368	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		T	1357015	C	T	1357015	3	4	26	1	0	0	0	0	1	0	0	0	9985	739	26	3	74	3	MUM1	19	1357015	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		1357015	57771968	74	1715											
TUBB4	10382	broad.mit.edu	37	chr19	6502176	6502176	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgagcaccttggccccGatctggttgccgcactggcc	4	8	11	18	3	1	0	0	0	1	0	2	2	2	0	7	3	2	3	7	3	0	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:6502176G>T	ENST00000264071.2	-	1	419	c.48C>A	c.(46-48)atC>atA	p.I16I	TUBB4A_ENST00000598006.1_Silent_p.I16I|TUBB4A_ENST00000596926.1_Silent_p.I16I|TUBB4A_ENST00000601152.1_Intron|TUBB4A_ENST00000540257.1_Silent_p.I16I			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	16					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CCTTGGCCCCGATCTGGTTGC	0.761																																						uc002mfg.1																			0											c.(46-48)atC>atA		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							9	9	9					19																	6502176		2174	4241	6415	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6502176G>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.48C>A	19.37:g.6502176G>T						TUBB4A_uc002mff.1_5'UTR	p.I16I	NM_006087	NP_006078	P04350	TBB4_HUMAN			0	155	-			16					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.48C>A	CCDS12168.1																																																																																				0.761	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		T	6502176	G	T	6502176	2	4	26	1	0	0	0	0	0	0	0	1	16755	1048	37	5		5	TUBB4	19	6502176	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	5145161	6502176	52626807	75	1716											
CD209	30835	broad.mit.edu	37	chr19	7807928	7807928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggggtgaagttctgctaCgcaggaggggggtttggggt	7	9	21	4	1	1	1	0	1	1	0	1	2	1	2	0	8	2	4	0	8	3	3	rs373806865		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:7807928C>T	ENST00000315599.7	-	7	1234	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CD209_ENST00000593660.1_Silent_p.A334A|CD209_ENST00000602261.1_Silent_p.A312A|CD209_ENST00000601951.1_Silent_p.A380A|CD209_ENST00000593821.1_Silent_p.A268A|CD209_ENST00000354397.6_Silent_p.A398A|CD209_ENST00000394161.5_Silent_p.A168A|CD209_ENST00000315591.8_Silent_p.A380A|CD209_ENST00000394173.4_Silent_p.A243A|CD209_ENST00000301357.8_Silent_p.A268A|CD209_ENST00000204801.8_Silent_p.A360A	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	404					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A404A(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTCTGCTACGCAGGAGGGG	0.502																																						uc002mht.2																			2	Substitution - coding silent(2)	p.A404A(3)	endometrium(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1210-1212)gcG>gcA		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.		C	,,,,,,	0,4406		0,0,2203	70	75	73		804,1080,936,1140,1194,729,1212	-4.7	0	19		73	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	268/269,360/361,312/313,380/381,398/399,243/244,404/405	7807928	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7807928C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1212G>A	19.37:g.7807928C>T						CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	p.A404A	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			6	1279	-			404					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.1212G>A	CCDS12186.1																																																																																				0.502	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7807928	C	T	7807928	2	4	26	1	0	0	0	0	0	0	0	1	2984	523	19	1		1	CD209	19	7807928	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	1305752	7807928	51321055	76	1717											
AKAP8	10270	broad.mit.edu	37	chr19	15484143	15484143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactcgaacggctggaagCggaaggagctgcaacagaag	14	3	16	8	3	0	1	0	0	0	1	1	6	0	5	0	5	5	3	0	5	5	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:15484143C>T	ENST00000269701.2	-	5	440	c.380G>A	c.(379-381)cGc>cAc	p.R127H		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	127					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGCTGGAAGCGGAAGGAGCT	0.607																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(379-381)cGc>cAc		Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.							18	19	19					19																	15484143		2202	4300	6502	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15484143C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.380G>A	19.37:g.15484143C>T	ENSP00000269701:p.Arg127His					AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	p.R127H	NM_005858	NP_005849	O43823	AKAP8_HUMAN			4	450	-			127						Missense_Mutation	SNP	ENST00000269701.2	37	c.380G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	c	17.01	3.278651	0.59758	.	.	ENSG00000105127	ENST00000269701	T	0.62498	0.02	4.82	4.82	0.62117	.	0.000000	0.45606	D	0.000352	T	0.56171	0.1967	M	0.72894	2.215	0.80722	D	1	P	0.43231	0.801	B	0.27500	0.08	T	0.68194	-0.5473	10	0.87932	D	0	-21.1976	15.1765	0.72916	0.0:1.0:0.0:0.0	.	127	O43823	AKAP8_HUMAN	H	127	ENSP00000269701:R127H	ENSP00000269701:R127H	R	-	2	0	AKAP8	15345143	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.661000	0.61518	2.392000	0.81423	0.651000	0.88453	CGC		0.607	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		T	15484143	C	T	15484143	3	4	26	1	0	0	0	0	1	0	0	0	457	768	27	1	1738	1	AKAP8	19	15484143	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	7676215	15484143	43644840	77	1718											
OR10H4	126541	broad.mit.edu	37	chr19	16060302	16060302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggggatgatggtgacaaCgatagttttccacctcactt	10	12	10	9	1	1	2	1	2	0	0	2	4	2	3	2	3	1	1	2	3	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:16060302C>T	ENST00000322107.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGGTGACAACGATAGTTTTC	0.502																																						uc010xov.2																			0		p.T162T(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(484-486)aCg>aTg		Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.							241	202	215					19																	16060302		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060302C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.485C>T	19.37:g.16060302C>T	ENSP00000318834:p.Thr162Met						p.T162M	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			0	485	+			162					Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.485C>T	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	N	2.045	-0.419112	0.04766	.	.	ENSG00000176231	ENST00000322107	T	0.00265	8.39	1.53	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	1.568010	0.04672	N	0.410809	T	0.00210	0.0006	L	0.56199	1.76	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.35748	-0.9776	10	0.40728	T	0.16	.	6.7009	0.23225	0.0:0.4541:0.0:0.5459	.	162	Q8NGA5	O10H4_HUMAN	M	162	ENSP00000318834:T162M	ENSP00000318834:T162M	T	+	2	0	OR10H4	15921302	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-4.231000	0.00269	-1.400000	0.02061	-1.523000	0.00931	ACG		0.502	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			T	16060302	C	T	16060302	3	4	26	1	0	0	0	0	1	0	0	0	10908	536	19	1	487	1	OR10H4	19	16060302	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	576159	16060302	43068681	78	1719											
RCN3	57333	broad.mit.edu	37	chr19	50042431	50042431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtccaggtggaggagtAcatcggtgagtgggccccaa	9	8	15	9	1	0	1	0	1	0	0	2	3	1	3	3	5	1	1	3	5	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50042431A>G	ENST00000270645.3	+	5	1121	c.674A>G	c.(673-675)tAc>tGc	p.Y225C		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	225	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGGAGGAGTACATCGGTGAG	0.587																																						uc002poj.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(673-675)tAc>tGc		Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.							113	98	104					19																	50042431		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50042431A>G	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.674A>G	19.37:g.50042431A>G	ENSP00000270645:p.Tyr225Cys						p.Y225C	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	4	1121	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	225			EF-hand 4.		Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.674A>G	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020636	0.75275	.	.	ENSG00000142552	ENST00000270645	T	0.57273	0.41	5.09	5.09	0.68999	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89206	0.3561	10	0.87932	D	0	-43.4742	14.0025	0.64442	1.0:0.0:0.0:0.0	.	225	Q96D15	RCN3_HUMAN	C	225	ENSP00000270645:Y225C	ENSP00000270645:Y225C	Y	+	2	0	RCN3	54734243	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	8.476000	0.90421	2.136000	0.66102	0.533000	0.62120	TAC		0.587	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		G	50042431	A	G	50042431	3	3	26	1	0	0	0	0	1	0	0	0	13181	391	14	4	688	4	RCN3	19	50042431	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	33982129	50042431	9086552	79	1720											
SIGLEC11	114132	broad.mit.edu	37	chr19	50453362	50453362	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtccgcaggctcccaGagcctcaggccctggaagct	6	7	12	16	1	1	1	1	0	0	1	4	2	4	2	5	4	2	3	5	4	1	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50453362G>T	ENST00000447370.2	-	11	2052	c.1962C>A	c.(1960-1962)ctC>ctA	p.L654L	SIGLEC11_ENST00000426971.2_Silent_p.L558L|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	654					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGGCTCCCAGAGCCTCAGGC	0.662																																						uc010ybh.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1960-1962)ctC>ctA		Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.							35	35	35					19																	50453362		2202	4300	6502	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50453362G>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1962C>A	19.37:g.50453362G>T						SIGLEC11_uc010ybi.2_Silent_p.L558L	p.L654L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	10	2053	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	654						Silent	SNP	ENST00000447370.2	37	c.1962C>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	2.881	-0.231716	0.05983	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.97	-6.57	0.01842	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26883	-1.0090	4	.	.	.	.	3.4794	0.07597	0.291:0.0:0.2978:0.4112	.	.	.	.	Y	548	.	.	S	-	2	0	SIGLEC11	55145174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.864000	0.04254	-1.181000	0.02730	-0.782000	0.03352	TCT		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		T	50453362	G	T	50453362	2	4	26	1	0	0	0	0	0	0	0	1	14307	929	33	5		5	SIGLEC11	19	50453362	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	410931	50453362	8675621	80	1721											
RBL1	5933	broad.mit.edu	37	chr20	35663716	35663716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccattgttagaagagttTgaccaggtaaaattgataca	14	12	10	5	0	0	4	0	2	0	2	0	4	0	4	2	2	1	3	2	2	5	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr20:35663716T>A	ENST00000373664.3	-	15	2165	c.2099A>T	c.(2098-2100)cAa>cTa	p.Q700L	RBL1_ENST00000344359.3_Missense_Mutation_p.Q700L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	700	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAGAAGAGTTTGACCAGGTAA	0.363																																						uc002xgi.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2098-2100)cAa>cTa		Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.							141	129	133					20																	35663716		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35663716T>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2099A>T	20.37:g.35663716T>A	ENSP00000362768:p.Gln700Leu					RBL1_uc002xgj.1_Missense_Mutation_p.Q700L	p.Q700L	NM_002895	NP_002886	P28749	RBL1_HUMAN			14	2178	-		Myeloproliferative disorder(115;0.00878)	700			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2099A>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009431	0.54361	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93811	-3.05;-3.29	5.29	5.29	0.74685	.	0.402345	0.25780	N	0.028355	D	0.91666	0.7366	M	0.61703	1.905	0.53688	D	0.999972	P;P	0.41420	0.622;0.749	B;B	0.38156	0.108;0.266	D	0.91665	0.5345	10	0.44086	T	0.13	-18.7796	15.3954	0.74787	0.0:0.0:0.0:1.0	.	700;700	P28749-2;P28749	.;RBL1_HUMAN	L	700	ENSP00000362768:Q700L;ENSP00000343646:Q700L	ENSP00000343646:Q700L	Q	-	2	0	RBL1	35097130	0.999000	0.42202	0.717000	0.30585	0.712000	0.41017	3.934000	0.56553	2.222000	0.72286	0.383000	0.25322	CAA		0.363	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		A	35663716	T	A	35663716	3	1	26	1	0	0	0	0	1	0	0	0	13109	1812	63	5	1148	5	RBL1	20	35663716	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		35663716	27361804	81	1722											
DSCAM	1826	broad.mit.edu	37	chr21	41514514	41514514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttggcccagtaaatgActctgaacccctggagaatt	11	10	11	9	0	1	4	0	3	1	1	1	5	1	4	3	3	1	2	3	3	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:41514514A>T	ENST00000400454.1	-	18	3854	c.3377T>A	c.(3376-3378)gTc>gAc	p.V1126D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1126	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGTAAATGACTCTGAACCC	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3376-3378)gTc>gAc		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							128	120	123					21																	41514514		1878	4096	5974	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514514A>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3377T>A	21.37:g.41514514A>T	ENSP00000383303:p.Val1126Asp					DSCAM_uc002yyr.1_Non-coding_Transcript	p.V1126D	NM_001389	NP_001380	O60469	DSCAM_HUMAN			17	3829	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1126			Fibronectin type-III 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3377T>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514407	0.85389	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69040	-0.37;-0.37	5.27	5.27	0.74061	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063991	0.64402	D	0.000005	D	0.84224	0.5425	H	0.95504	3.68	0.80722	D	1	D	0.55172	0.97	P	0.55455	0.776	D	0.89379	0.3680	10	0.87932	D	0	.	15.5493	0.76137	1.0:0.0:0.0:0.0	.	1126	O60469	DSCAM_HUMAN	D	1126;878	ENSP00000383303:V1126D;ENSP00000385342:V878D	ENSP00000383303:V1126D	V	-	2	0	DSCAM	40436384	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.171000	0.94802	2.115000	0.64714	0.524000	0.50904	GTC		0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	41514514	A	T	41514514	3	4	26	1	0	0	0	0	1	0	0	0	4768	275	10	5	2725	5	DSCAM	21	41514514	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		41514514	6615381	82	1723											
PRDM15	63977	broad.mit.edu	37	chr21	43230603	43230603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgcctccaccttgtcGtgtgtgagctgaacgtgctt	4	13	11	13	3	1	2	0	2	1	0	3	2	2	2	3	0	4	2	3	0	1	2	rs201676459		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:43230603G>A	ENST00000269844.3	-	28	3767	c.3657C>T	c.(3655-3657)caC>caT	p.H1219H	PRDM15_ENST00000398548.1_Silent_p.H890H|PRDM15_ENST00000538201.1_Silent_p.H873H|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Silent_p.H910H|PRDM15_ENST00000447207.2_Silent_p.H853H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCACCTTGTCGTGTGTGAGCT	0.612																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3655-3657)caC>caT		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							116	71	86					21																	43230603		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230603G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3657C>T	21.37:g.43230603G>A						PRDM15_uc002yzo.3_Silent_p.H890H|PRDM15_uc002yzp.3_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	p.H1219H	NM_022115	NP_071398	P57071	PRD15_HUMAN			27	3768	-			1219					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.3657C>T	CCDS13676.1																																																																																				0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43230603	G	A	43230603	2	1	26	1	0	0	0	0	0	0	0	1	12456	1136	40	1		1	PRDM15	21	43230603	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	1716089	43230603	4899292	83	1724											
IL2RB	3560	broad.mit.edu	37	chr22	37524874	37524874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgatgaggggaagggCgaagagagccacttctggtg	12	5	18	6	2	1	2	0	1	1	1	1	7	1	4	1	5	1	0	1	5	3	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr22:37524874C>T	ENST00000216223.5	-	10	1116	c.918G>A	c.(916-918)tcG>tcA	p.S306S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	306					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGGGAAGGGCGAAGAGAGCC	0.622																																						uc003aqv.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(916-918)tcG>tcA		Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						30	30	30					22																	37524874		2200	4294	6494	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524874C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.918G>A	22.37:g.37524874C>T							p.S306S	NM_000878	NP_000869	P14784	IL2RB_HUMAN			9	1049	-			306					B2R765	Silent	SNP	ENST00000216223.5	37	c.918G>A	CCDS13942.1																																																																																				0.622	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			T	37524874	C	T	37524874	2	4	26	1	0	0	0	0	0	0	0	1	7687	755	27	1		1	IL2RB	22	37524874	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		37524874	13779692	84	1725											
KDM6A	7403	broad.mit.edu	37	chrX	44922695	44922695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacaggagttgcacaggtacGatctactggaattcctaatg	13	10	10	8	1	1	0	0	0	1	0	2	3	2	2	1	3	4	3	1	3	5	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:44922695G>C	ENST00000377967.4	+	16	1597	c.1556G>C	c.(1555-1557)cGa>cCa	p.R519P	KDM6A_ENST00000382899.4_Missense_Mutation_p.R526P|KDM6A_ENST00000543216.1_Missense_Mutation_p.R440P|KDM6A_ENST00000536777.1_Missense_Mutation_p.R474P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCACAGGTACGATCTACTGGA	0.463			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	uc011mkz.2				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1711-1713)cGa>cCa		Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.							79	69	72					X																	44922695		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922695G>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1556G>C	X.37:g.44922695G>C	ENSP00000367203:p.Arg519Pro					KDM6A_uc022bvi.1_Missense_Mutation_p.R189P|KDM6A_uc010nhk.2_Missense_Mutation_p.R485P|KDM6A_uc004dge.4_Missense_Mutation_p.R519P|KDM6A_uc011mla.2_Missense_Mutation_p.R474P|KDM6A_uc011mlb.2_Missense_Mutation_p.R526P|KDM6A_uc011mlc.2_Missense_Mutation_p.R223P|KDM6A_uc022bvj.1_Missense_Mutation_p.R440P|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.R158P	p.R571P	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2087	+			519					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.1712G>C	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.423400|4.423400	0.83559|0.83559	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000451692|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688	.|T;T;T;T	.|0.19806	.|2.15;2.13;2.12;2.19	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.365679	.|0.29053	.|N	.|0.013298	T|T	0.44477|0.44477	0.1295|0.1295	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;P;B;D;P	.|0.76494	.|0.998;0.999;0.676;0.367;0.998;0.872	.|D;D;P;B;D;P	.|0.80764	.|0.989;0.994;0.451;0.264;0.992;0.644	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.34782	.|T	.|0.22	-6.2392|-6.2392	17.7676|17.7676	0.88483|0.88483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;526;474;571;485;519	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	H|P	149|216;519;474;526;440;112	.|ENSP00000367203:R519P;ENSP00000437405:R474P;ENSP00000372355:R526P;ENSP00000443078:R440P	.|ENSP00000334340:R216P	D|R	+|+	1|2	0|0	KDM6A|KDM6A	44807639|44807639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	9.160000|9.160000	0.94734|0.94734	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	GAT|CGA		0.463	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		C	44922695	G	C	44922695	3	2	26	1	0	0	0	0	1	0	0	0	8137	1058	37	5	1618	5	KDM6A	23	44922695	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		44922695	110347865	85	1726											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299171	125299171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccacatccctcggaCggatgtgggcatatactggg	7	9	13	12	2	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	2	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:125299171C>T	ENST00000360028.2	-	1	763	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R246H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(736-738)cGt>cAt		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							33	36	35					X																	125299171		2203	4298	6501	SO:0001583	missense	340578							g.chrX:125299171C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.737G>A	X.37:g.125299171C>T	ENSP00000353128:p.Arg246His						p.R246H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	910	-			246					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.737G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382091	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18016	2.24;2.24	3.87	-1.21	0.09524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.186280	0.06407	N	0.719915	T	0.12135	0.0295	L	0.43152	1.355	0.09310	N	1	D	0.53151	0.958	B	0.42188	0.379	T	0.23226	-1.0194	10	0.13470	T	0.59	.	3.4268	0.07413	0.189:0.3404:0.0:0.4706	.	246	Q5VW00	DC122_HUMAN	H	246	ENSP00000441489:R246H;ENSP00000353128:R246H	ENSP00000353128:R246H	R	-	2	0	DCAF12L2	125126852	0.264000	0.24093	0.001000	0.08648	0.106000	0.19336	0.473000	0.22132	-0.455000	0.07054	0.544000	0.68410	CGT		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299171	C	T	125299171	3	4	26	1	0	0	0	0	1	0	0	0	4265	536	19	1	658	1	DCAF12L2	23	125299171	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	80376476	125299171	29971389	86	1727											
SLITRK4	139065	broad.mit.edu	37	chrX	142718314	142718314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcaattcaacgacaCggccaatgtgttccagaacc	12	8	8	13	2	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142718314C>T	ENST00000381779.4	-	2	836	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral component of membrane (GO:0016021)		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428																																						uc022cfm.1																			1	Substitution - Missense(1)	p.R204H(2)|p.R204C(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(610-612)cGt>cAt		Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.							86	82	84					X																	142718314		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718314C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.611G>A	X.37:g.142718314C>T	ENSP00000371198:p.Arg204His					SLITRK4_uc022cfl.1_Missense_Mutation_p.R204H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R204H|SLITRK4_uc004fby.3_Missense_Mutation_p.R204H	p.R204H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			0	611	-	Acute lymphoblastic leukemia(192;6.56e-05)		204					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.611G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908800	0.52439	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52526	0.66;0.66;0.66	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	N	0.17764	0.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.59139	-0.7510	10	0.59425	D	0.04	-6.3467	17.313	0.87214	0.0:1.0:0.0:0.0	.	204	Q8IW52	SLIK4_HUMAN	H	204	ENSP00000371198:R204H;ENSP00000349400:R204H;ENSP00000336627:R204H	ENSP00000336627:R204H	R	-	2	0	SLITRK4	142545980	1.000000	0.71417	0.840000	0.33206	0.462000	0.32619	7.818000	0.86416	2.412000	0.81896	0.597000	0.82753	CGT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		T	142718314	C	T	142718314	3	4	26	1	0	0	0	0	1	0	0	0	14745	536	19	1	1906	1	SLITRK4	23	142718314	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	17419143	142718314	12552246	87	1728											
SPANXN2	494119	broad.mit.edu	37	chrX	142795437	142795437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctcctcctcttggaCgggattgatggagttctctc	4	15	10	12	2	2	1	0	1	2	0	8	4	5	4	3	3	0	1	3	3	0	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142795437C>T	ENST00000370498.1	-	2	994	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453																																						uc004fbz.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.V81F(2)|p.R90R(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(241-243)Gtc>Atc		Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.							305	279	288					X																	142795437		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795437C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.241G>A	X.37:g.142795437C>T	ENSP00000359529:p.Val81Ile						p.V81I	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			1	995	-	Acute lymphoblastic leukemia(192;6.56e-05)		81					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.241G>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.835585	0.00579	.	.	ENSG00000203924	ENST00000370498	T	0.06687	3.27	0.225	0.225	0.15325	.	.	.	.	.	T	0.02193	0.0068	N	0.02225	-0.63	0.09310	N	1	P	0.39665	0.682	B	0.29267	0.1	T	0.43442	-0.9391	8	0.19147	T	0.46	.	.	.	.	.	81	Q5MJ10	SPXN2_HUMAN	I	81	ENSP00000359529:V81I	ENSP00000359529:V81I	V	-	1	0	SPANXN2	142623103	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.380000	0.07427	0.280000	0.22209	0.284000	0.19432	GTC		0.453	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		T	142795437	C	T	142795437	3	4	26	1	0	0	0	0	1	0	0	0	14991	536	19	1	305	1	SPANXN2	23	142795437	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	77123	142795437	12475123	88	1729											
SPTA1	6708	broad.mit.edu	37	chr1	158585171	158585171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttagttgacgcttcatcGcctggatctccttctgtttt	4	18	9	10	2	3	1	1	1	2	0	5	2	3	2	2	2	0	4	2	2	1	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:158585171G>A	ENST00000368147.4	-	48	6803	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2208					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGCTTCATCGCCTGGATCTC	0.468																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6622-6624)gCg>gTg		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							150	145	147					1																	158585171		1913	4139	6052	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585171G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6623C>T	1.37:g.158585171G>A	ENSP00000357129:p.Ala2208Val						p.A2208V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			47	6822	-	all_hematologic(112;0.0378)		2208					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6623C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052548	0.55218	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.65	2.39	0.29439	.	0.272394	0.19537	N	0.111883	T	0.23766	0.0575	L	0.41710	1.295	0.43203	D	0.995051	B	0.26708	0.157	B	0.33196	0.159	T	0.14309	-1.0477	10	0.66056	D	0.02	.	7.9768	0.30159	0.1797:0.1358:0.6844:0.0	.	2208	P02549	SPTA1_HUMAN	V	2208;2205	ENSP00000357130:A2208V;ENSP00000357129:A2205V	ENSP00000357129:A2205V	A	-	2	0	SPTA1	156851795	1.000000	0.71417	0.758000	0.31321	0.967000	0.64934	4.893000	0.63199	0.820000	0.34516	0.655000	0.94253	GCG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158585171	G	A	158585171	3	1	27	1	0	0	0	0	1	0	0	0	15115	1087	38	1	656	1	SPTA1	1	158585171	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		158585171	90665450	1	1730											
SERPINC1	462	broad.mit.edu	37	chr1	173878724	173878724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcagggctgaacagatcGacaaggcccatgtcttgcag	10	10	11	10	1	2	2	1	1	1	1	3	3	2	2	1	2	2	2	1	2	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:173878724G>A	ENST00000367698.3	-	5	1237	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	373					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TGAACAGATCGACAAGGCCCA	0.527																																						uc001gjt.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1117-1119)gtC>gtT		Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						78	80	80					1																	173878724		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878724G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1119C>T	1.37:g.173878724G>A							p.V373V	NM_000488	NP_000479	P01008	ANT3_HUMAN			4	1238	-			373					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.1119C>T	CCDS1313.1																																																																																				0.527	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		A	173878724	G	A	173878724	2	1	27	1	0	0	0	0	0	0	0	1	14109	1045	37	2		2	SERPINC1	1	173878724	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	15293553	173878724	75371897	2	1731											
SYT2	127833	broad.mit.edu	37	chr1	202566072	202566072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgtcatagtccagcacgGtgaccactacctggactttc	8	11	9	13	1	1	1	1	1	0	0	3	2	2	2	3	2	2	2	3	2	2	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:202566072G>A	ENST00000367267.1	-	9	1265	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	SYT2_ENST00000367268.4_Missense_Mutation_p.T358I	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	358	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTCCAGCACGGTGACCACTAC	0.547																																						uc001gye.3																			0		p.T358T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1072-1074)aCc>aTc		Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	Botulinum Toxin Type B(DB00042)						91	71	78					1																	202566072		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202566072G>A	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1073C>T	1.37:g.202566072G>A	ENSP00000356236:p.Thr358Ile					SYT2_uc010pqb.2_Missense_Mutation_p.T358I|SYT2_uc009xaf.3_Missense_Mutation_p.T188I	p.T358I	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		8	1266	-			358			C2 2.|Phospholipid binding (By similarity).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.1073C>T	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684846	0.88639	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.70399	-0.48;-0.48	5.05	5.05	0.67936	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.81250	-0.1018	10	0.62326	D	0.03	.	18.0076	0.89214	0.0:0.0:1.0:0.0	.	358	Q8N9I0	SYT2_HUMAN	I	358	ENSP00000356237:T358I;ENSP00000356236:T358I	ENSP00000356236:T358I	T	-	2	0	SYT2	200832695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.708000	0.98727	2.324000	0.78689	0.655000	0.94253	ACC		0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		A	202566072	G	A	202566072	3	1	27	1	0	0	0	0	1	0	0	0	15471	1261	44	3	190	3	SYT2	1	202566072	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	28687348	202566072	46684549	3	1732											
HSD11B1	3290	broad.mit.edu	37	chr1	209907741	209907741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaaagggggagctctgCgccaagaagaagtgtattat	13	9	12	7	1	3	2	2	0	1	2	3	3	3	3	1	2	2	2	1	2	6	2	rs374552497		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:209907741C>T	ENST00000367028.2	+	7	923	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	HSD11B1_ENST00000367027.3_Missense_Mutation_p.R252C|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R252C	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	252					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GGGAGCTCTGCGCCAAGAAGA	0.463																																						uc001hhj.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.(754-756)Cgc>Tgc		Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	NADH(DB00157)	C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	113	105	108		754,754,754	5.9	0.4	1		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HSD11B1	NM_001206741.1,NM_005525.3,NM_181755.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	252/293,252/293,252/293	209907741	1,13005	2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209907741C>T	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.754C>T	1.37:g.209907741C>T	ENSP00000355995:p.Arg252Cys					HSD11B1_uc021pin.1_Missense_Mutation_p.R252C|HSD11B1_uc001hhk.3_Missense_Mutation_p.R252C	p.R252C	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	6	886	+			252					B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.754C>T	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536563	0.85812	0.0	1.16E-4	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.85411	-1.98;-1.98;-1.98	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94102	0.8109	M	0.89968	3.075	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.94334	0.7564	10	0.66056	D	0.02	.	19.1646	0.93551	0.0:1.0:0.0:0.0	.	252	P28845	DHI1_HUMAN	C	252	ENSP00000355995:R252C;ENSP00000261465:R252C;ENSP00000355994:R252C	ENSP00000261465:R252C	R	+	1	0	HSD11B1	207974364	0.962000	0.33011	0.390000	0.26220	0.920000	0.55202	2.979000	0.49313	2.824000	0.97209	0.655000	0.94253	CGC		0.463	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		T	209907741	C	T	209907741	3	4	27	1	0	0	0	0	1	0	0	0	7375	768	27	1	776	1	HSD11B1	1	209907741	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	7341669	209907741	39342880	4	1733											
RYR2	6262	broad.mit.edu	37	chr1	237777626	237777626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccatgacggaggagaCgaagagcatcaccctgttcc	10	7	11	13	2	1	3	1	1	0	2	3	6	3	4	4	2	1	2	4	2	1	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:237777626C>T	ENST00000366574.2	+	37	5515	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M	RYR2_ENST00000360064.6_Missense_Mutation_p.T1731M|RYR2_ENST00000542537.1_Missense_Mutation_p.T1717M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1733	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGAGGAGACGAAGAGCATC	0.557																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5197-5199)aCg>aTg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							64	64	64					1																	237777626		2123	4235	6358	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777626C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5198C>T	1.37:g.237777626C>T	ENSP00000355533:p.Thr1733Met						p.T1733M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5318	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1733			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5198C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528120	0.85706	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74421	-0.84;-0.84;-0.84	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	D	0.86669	0.5988	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.87615	0.2506	10	0.59425	D	0.04	.	19.2592	0.93961	0.0:1.0:0.0:0.0	.	1733	Q92736	RYR2_HUMAN	M	1733;1731;1717	ENSP00000355533:T1733M;ENSP00000353174:T1731M;ENSP00000443798:T1717M	ENSP00000353174:T1731M	T	+	2	0	RYR2	235844249	1.000000	0.71417	0.956000	0.39512	0.962000	0.63368	7.776000	0.85560	2.563000	0.86464	0.650000	0.86243	ACG		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237777626	C	T	237777626	3	4	27	1	0	0	0	0	1	0	0	0	13769	536	19	1	5344	1	RYR2	1	237777626	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	27869885	237777626	11472995	5	1734											
C2orf16	84226	broad.mit.edu	37	chr2	27803330	27803330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagaatcaccaagcgactTagaaaacacagaaagttcta	20	6	7	8	1	2	3	1	0	1	3	2	5	2	3	1	0	2	1	1	0	8	3	rs535533658		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:27803330T>C	ENST00000408964.2	+	1	3942	c.3891T>C	c.(3889-3891)ctT>ctC	p.L1297L	ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1297						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCAAGCGACTTAGAAAACACA	0.403																																						uc002rkz.4																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3889-3891)ctT>ctC		Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.							82	78	79					2																	27803330		1831	4092	5923	SO:0001819	synonymous_variant	84226							g.chr2:27803330T>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3891T>C	2.37:g.27803330T>C						ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	p.L1297L	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			0	3942	+	Acute lymphoblastic leukemia(172;0.155)		1297					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.3891T>C	CCDS42666.1																																																																																				0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		C	27803330	T	C	27803330	2	2	27	1	0	0	0	0	0	0	0	1	2157	1741	61	4		4	C2orf16	2	27803330	Silent	SNP	T	TCGA-06-0157-01A-01D-1491-08		27803330	215396043	6	1735											
SNRNP200	23020	broad.mit.edu	37	chr2	96964138	96964138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttcactttgtgcactggCcagcaaggtacagtataaaa	13	10	9	9	0	1	0	1	0	0	0	1	0	1	0	1	2	4	5	1	2	5	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:96964138C>T	ENST00000323853.5	-	9	1080	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	SNRNP200_ENST00000349783.5_Missense_Mutation_p.A335T	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	335					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTGCACTGGCCAGCAAGGTA	0.433																																						uc002svu.3																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1003-1005)Gcc>Acc		Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.							101	104	103					2																	96964138		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96964138C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1003G>A	2.37:g.96964138C>T	ENSP00000317123:p.Ala335Thr						p.A335T	NM_014014	NP_054733	O75643	U520_HUMAN			8	1135	-			335					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1003G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115572	0.56505	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.69306	-0.39;1.37	5.77	4.9	0.64082	.	0.162491	0.53938	N	0.000053	T	0.65069	0.2656	M	0.67569	2.06	0.58432	D	0.999997	B	0.23490	0.086	B	0.24269	0.052	T	0.62661	-0.6807	10	0.38643	T	0.18	-11.8148	13.8453	0.63463	0.0:0.9253:0.0:0.0747	.	335	O75643	U520_HUMAN	T	335;335;10	ENSP00000317123:A335T;ENSP00000326937:A335T	ENSP00000317123:A335T	A	-	1	0	SNRNP200	96327865	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.411000	0.80078	1.457000	0.47850	-0.266000	0.10368	GCC		0.433	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		T	96964138	C	T	96964138	3	4	27	1	0	0	0	0	1	0	0	0	14852	739	26	3	5555	3	SNRNP200	2	96964138	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	69160808	96964138	146235235	7	1736											
TBR1	10716	broad.mit.edu	37	chr2	162280004	162280004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaccagttcgtgagcAactacgccaaggcccgcttc	9	7	11	14	3	0	1	0	1	0	0	2	2	0	2	3	2	4	4	3	2	3	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:162280004A>G	ENST00000389554.3	+	6	1632	c.1315A>G	c.(1315-1317)Aac>Gac	p.N439D	AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.N152D|AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	439					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTTCGTGAGCAACTACGCCAA	0.746																																						uc002ubw.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(1315-1317)Aac>Gac		Homo sapiens T-box, brain, 1 (TBR1), mRNA.							8	10	9					2																	162280004		1980	4068	6048	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162280004A>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1315A>G	2.37:g.162280004A>G	ENSP00000374205:p.Asn439Asp					TBR1_uc010foy.2_Missense_Mutation_p.N152D	p.N439D	NM_006593	NP_006584	Q16650	TBR1_HUMAN			5	1617	+			439					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.1315A>G	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.213561	0.58452	.	.	ENSG00000136535	ENST00000389554;ENST00000410035	D;D	0.87103	-2.21;-1.57	3.67	3.67	0.42095	.	0.000000	0.46758	U	0.000277	T	0.81631	0.4863	L	0.47190	1.495	0.39395	D	0.966493	B	0.33103	0.397	B	0.35039	0.194	T	0.77547	-0.2547	10	0.14656	T	0.56	.	12.5317	0.56120	1.0:0.0:0.0:0.0	.	439	Q16650	TBR1_HUMAN	D	439;152	ENSP00000374205:N439D;ENSP00000387023:N152D	ENSP00000374205:N439D	N	+	1	0	TBR1	161988250	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.309000	0.59135	1.558000	0.49541	0.254000	0.18369	AAC		0.746	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		G	162280004	A	G	162280004	3	3	27	1	0	0	0	0	1	0	0	0	15644	130	5	4	1337	4	TBR1	2	162280004	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	65315866	162280004	80919369	8	1737											
TTN	7273	broad.mit.edu	37	chr2	179542633	179542633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaactggaactggttcacGtttctttggcactttaaaga	11	13	10	7	1	2	1	1	0	1	1	2	3	2	3	0	4	2	3	0	4	4	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:179542633G>A	ENST00000591111.1	-	144	33279	c.33055C>T	c.(33055-33057)Cgt>Tgt	p.R11019C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11336C|TTN_ENST00000342992.6_Missense_Mutation_p.R10092C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10166	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGTTCACGTTTCTTTGGC	0.363																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30274-30276)Cgt>Tgt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							59	58	58					2																	179542633		1830	4074	5904	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542633G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33055C>T	2.37:g.179542633G>A	ENSP00000465570:p.Arg11019Cys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.R10092C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30499	-			11019			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30274C>T		.	.	.	.	.	.	.	.	.	.	G	11.36	1.614574	0.28712	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	6.07	5.18	0.71444	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46814	0.1412	N	0.14661	0.345	0.27945	N	0.937388	P	0.39116	0.66	B	0.27796	0.083	T	0.48222	-0.9054	9	0.87932	D	0	.	5.7122	0.17941	0.0664:0.1231:0.5558:0.2547	.	11019	Q8WZ42	TITIN_HUMAN	C	10092	ENSP00000343764:R10092C	ENSP00000343764:R10092C	R	-	1	0	TTN	179250878	0.901000	0.30685	0.941000	0.38009	0.921000	0.55340	1.244000	0.32778	1.558000	0.49541	0.650000	0.86243	CGT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179542633	G	A	179542633	3	1	27	1	0	0	0	0	1	0	0	0	16732	1145	40	1	70391	1	TTN	2	179542633	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	17262629	179542633	63656740	9	1738											
PDE1A	5136	broad.mit.edu	37	chr2	183053766	183053766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggggaaaatggaagccCtaattcagcttctttatctc	12	12	9	8	0	3	0	1	0	2	0	4	2	3	2	1	3	2	1	1	3	6	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:183053766C>T	ENST00000410103.1	-	12	1278	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	PDE1A_ENST00000536095.1_Missense_Mutation_p.G295R|PDE1A_ENST00000358139.2_Missense_Mutation_p.G399R|PDE1A_ENST00000435564.1_Missense_Mutation_p.G399R|PDE1A_ENST00000351439.5_Missense_Mutation_p.G383R|PDE1A_ENST00000346717.4_Missense_Mutation_p.G365R|PDE1A_ENST00000409365.1_Missense_Mutation_p.G383R|PDE1A_ENST00000331935.6_Missense_Mutation_p.G399R|PDE1A_ENST00000456212.1_Missense_Mutation_p.G399R	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	399	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AATGGAAGCCCTAATTCAGCT	0.413																																						uc002uos.3																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(1195-1197)Ggg>Agg		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.							150	158	155					2																	183053766		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183053766C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1195G>A	2.37:g.183053766C>T	ENSP00000387037:p.Gly399Arg					PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.3_Missense_Mutation_p.G383R|PDE1A_uc002uou.3_Missense_Mutation_p.G365R	p.G399R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		11	1279	-			399			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1195G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912102	0.92178	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.6	5.6	0.85130	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.991;0.999;0.999	D	0.95014	0.8154	10	0.87932	D	0	.	18.9615	0.92679	0.0:1.0:0.0:0.0	.	295;365;399;383;399	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	R	399;365;295;383;399;383;399;399;399	ENSP00000410309:G399R;ENSP00000329112:G365R;ENSP00000439938:G295R;ENSP00000386767:G383R;ENSP00000331574:G399R;ENSP00000309269:G383R;ENSP00000387037:G399R;ENSP00000350858:G399R;ENSP00000408874:G399R	ENSP00000331574:G399R	G	-	1	0	PDE1A	182762011	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.142000	0.77339	2.793000	0.96121	0.591000	0.81541	GGG		0.413	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			T	183053766	C	T	183053766	3	4	27	1	0	0	0	0	1	0	0	0	11633	681	24	3	506	3	PDE1A	2	183053766	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	3511133	183053766	60145607	10	1739											
STXBP5L	9515	broad.mit.edu	37	chr3	121126274	121126274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaataggagatcatcaGtatacaataatctgctcaga	18	9	7	7	0	4	3	3	0	1	3	4	4	4	3	0	1	2	2	0	1	7	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:121126274G>C	ENST00000273666.6	+	24	3115	c.2844G>C	c.(2842-2844)caG>caC	p.Q948H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q924H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q948H|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q924H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q922H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	948					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGATCATCAGTATACAATAA	0.378																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2842-2844)caG>caC		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							124	118	120					3																	121126274		1880	4115	5995	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126274G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2844G>C	3.37:g.121126274G>C	ENSP00000273666:p.Gln948His					STXBP5L_uc011bji.2_Missense_Mutation_p.Q924H	p.Q948H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	23	2984	+			948					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2844G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834372	0.32421	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.41758	0.99;0.99;1.76;1.76;1.76;0.99	5.33	4.45	0.53987	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.058274	0.64402	D	0.000001	T	0.33556	0.0867	L	0.43152	1.355	0.47905	D	0.999544	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.10019	-1.0648	10	0.23891	T	0.37	-8.2693	11.006	0.47635	0.1628:0.0:0.8372:0.0	.	924;948	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	948;924;924;922;948;891	ENSP00000273666:Q948H;ENSP00000420019:Q924H;ENSP00000419627:Q924H;ENSP00000420287:Q922H;ENSP00000420666:Q948H;ENSP00000420167:Q891H	ENSP00000273666:Q948H	Q	+	3	2	STXBP5L	122608964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.015000	0.29963	1.386000	0.46466	0.650000	0.86243	CAG		0.378	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			C	121126274	G	C	121126274	3	2	27	1	0	0	0	0	1	0	0	0	15356	1020	36	5	2934	5	STXBP5L	3	121126274	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		121126274	76896156	11	1740											
DNAJB11	51726	broad.mit.edu	37	chr3	186302367	186302367	+	Frame_Shift_Del	DEL	A	A	-																															aaaagaacagttaacagaggAagcgagagaaggtatggcat																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:186302367delA	ENST00000439351.1	+	10	1930	c.1001delA	c.(1000-1002)gaafs	p.E334fs	DNAJB11_ENST00000265028.3_Frame_Shift_Del_p.E334fs			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	334					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTAACAGAGGAAGCGAGAGAA	0.413																																						uc003fqi.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(1000-1002)gaafs		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.							93	86	88					3																	186302367		2203	4300	6503	SO:0001589	frameshift_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302367delA	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.1001delA	3.37:g.186302367delA	ENSP00000414398:p.Glu334fs						p.E334fs	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	8	1736	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		334					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Frame_Shift_Del	DEL	ENST00000439351.1	37	c.1001delA	CCDS3277.1																																																																																				0.413	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			-	186302367	A	-	186302367	7	5	27	1	0	1	0	1	0	0	0	0	4616	246	9	0	1035	0	DNAJB11	3	186302367	Frame_Shift_Del	DEL	A	TCGA-06-0157-01A-01D-1491-08	65176093	186302367	11720063	12	1741											
UGT2B4	7363	broad.mit.edu	37	chr4	70361103	70361103	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttaagtaactcggccagCagctcaccaaaggggaaaac	15	7	9	10	1	1	0	1	0	0	0	2	1	1	1	2	3	4	3	2	3	5	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr4:70361103C>G	ENST00000305107.6	-	1	523	c.477G>C	c.(475-477)ctG>ctC	p.L159L	UGT2B4_ENST00000512583.1_Silent_p.L159L|UGT2B4_ENST00000381096.3_Silent_p.L23L|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	159					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACTCGGCCAGCAGCTCACCAA	0.428																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(475-477)ctG>ctC		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							49	50	50					4																	70361103		2174	4297	6471	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361103C>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.477G>C	4.37:g.70361103C>G						UGT2B4_uc011cap.2_Silent_p.L23L|UGT2B4_uc003hel.4_Silent_p.L159L	p.L159L	NM_021139	NP_066962	P06133	UD2B4_HUMAN			0	524	-			159					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.477G>C	CCDS43234.1																																																																																				0.428	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		G	70361103	C	G	70361103	2	3	27	1	0	0	0	0	0	0	0	1	16958	697	25	5		5	UGT2B4	4	70361103	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08		70361103	120793173	13	1742											
IRX1	79192	broad.mit.edu	37	chr5	3601124	3601124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcaggagggaacgccGcggatcctagcagccctccc	7	3	13	18	4	0	0	0	0	0	0	2	3	2	3	6	3	3	2	6	3	2	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:3601124G>A	ENST00000302006.3	+	4	1465	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	471					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGGAACGCCGCGGATCCTAG	0.652																																						uc003jde.3																			0		p.P471R(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1411-1413)ccG>ccA		Homo sapiens iroquois homeobox 1 (IRX1), mRNA.							50	55	53					5																	3601124		2202	4300	6502	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601124G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1413G>A	5.37:g.3601124G>A							p.P471P	NM_024337	NP_077313	P78414	IRX1_HUMAN			3	1465	+			471					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.1413G>A	CCDS34132.1																																																																																				0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3601124	G	A	3601124	2	1	27	1	0	0	0	0	0	0	0	1	7843	1074	38	1		1	IRX1	5	3601124	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		3601124	177314136	14	1743											
TARS	6897	broad.mit.edu	37	chr5	33461376	33461376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaaaattccttggagatatCgaagtatgggatcaagctga	15	10	11	5	1	1	2	1	1	0	1	3	6	2	3	1	2	1	2	1	2	6	4	rs376335480		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:33461376C>G	ENST00000265112.3	+	13	1838	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	TARS_ENST00000541634.1_Missense_Mutation_p.I405M|TARS_ENST00000502553.1_Missense_Mutation_p.I509M|TARS_ENST00000455217.2_Missense_Mutation_p.I542M|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Missense_Mutation_p.I388M	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	509					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTGGAGATATCGAAGTATGGG	0.373																																						uc003jhy.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1525-1527)atC>atG		Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	L-Threonine(DB00156)						93	97	96					5																	33461376		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461376C>G	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1527C>G	5.37:g.33461376C>G	ENSP00000265112:p.Ile509Met					TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.2_Missense_Mutation_p.I530M|TARS_uc003jhz.3_Missense_Mutation_p.I405M|TARS_uc011cod.2_Missense_Mutation_p.I388M	p.I509M	NM_152295	NP_689508	P26639	SYTC_HUMAN			12	1822	+			509					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1527C>G	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243818	0.39697	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.99	4.83	0.62350	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.148772	0.64402	D	0.000010	T	0.78266	0.4256	H	0.96833	3.89	0.48762	D	0.999703	P;B;B;B	0.41450	0.75;0.312;0.038;0.152	B;B;B;B	0.40864	0.342;0.341;0.106;0.235	T	0.82589	-0.0382	10	0.62326	D	0.03	1.9129	11.9912	0.53176	0.0:0.0673:0.0:0.9327	.	388;542;405;509	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	M	509;509;405;542;388	ENSP00000424387:I509M;ENSP00000265112:I509M;ENSP00000438469:I405M;ENSP00000387710:I542M;ENSP00000394291:I388M	ENSP00000265112:I509M	I	+	3	3	TARS	33497133	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.724000	0.25954	1.098000	0.41479	-0.238000	0.12139	ATC		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		G	33461376	C	G	33461376	3	3	27	1	0	0	0	0	1	0	0	0	15556	874	31	5	1577	5	TARS	5	33461376	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	29860252	33461376	147453884	15	1744											
RPS12	6206	broad.mit.edu	37	chr6	133137703	133137703	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaaatcaacctaattaagGtaaggctgctaaggattgtg	15	10	9	7	0	1	0	1	0	0	0	1	1	1	1	2	3	2	3	2	3	6	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr6:133137703G>T	ENST00000230050.3	+	4	444		c.e4+1		SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORA33_ENST00000363664.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		CCTAATTAAGGTAAGGCTGCT	0.438																																						uc003qdx.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.e4+1		Homo sapiens ribosomal protein S12 (RPS12), mRNA.							73	70	71					6																	133137703		2203	4300	6503	SO:0001630	splice_region_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133137703G>T	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.234+1G>T	6.37:g.133137703G>T						SNORA33_uc003qdy.1_3'UTR	p.K78_splice	NM_001016	NP_001007	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	4	316	+	Breast(56;0.214)		78					Q76M58	Splice_Site	SNP	ENST00000230050.3	37	c.234_splice	CCDS5164.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889529	0.72524	.	.	ENSG00000112306	ENST00000230050	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1951	0.86891	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPS12	133179396	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	6.391000	0.73208	2.134000	0.65973	0.655000	0.94253	.		0.438	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016	Intron	T	133137703	G	T	133137703	5	4	27	1	0	0	0	0	0	0	1	0	13622	1275	44	5	245	5	RPS12	6	133137703	Splice_Site	SNP	G	TCGA-06-0157-01A-01D-1491-08		133137703	37977364	16	1745											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	27	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		55221822	103916841	17	1746											
PCLO	27445	broad.mit.edu	37	chr7	82784773	82784773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtctttccaactccaGgaggctgagctaaagccttt	9	11	10	11	0	1	1	0	1	1	0	3	3	3	3	3	3	3	2	3	3	3	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:82784773G>A	ENST00000333891.9	-	2	1521	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	PCLO_ENST00000423517.2_Missense_Mutation_p.P395L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAACTCCAGGAGGCTGAGC	0.592																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1183-1185)cCt>cTt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							79	80	79					7																	82784773		1983	4159	6142	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784773G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1184C>T	7.37:g.82784773G>A	ENSP00000334319:p.Pro395Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P395L	p.P395L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1473	-			346			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1184C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232766	0.05983	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.34	4.32	0.266	0.15617	.	.	.	.	.	T	0.12603	0.0306	L	0.41492	1.28	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30090	-0.9990	9	0.87932	D	0	.	4.2233	0.10568	0.3451:0.0:0.5043:0.1506	.	395;395	Q9Y6V0-5;Q9Y6V0-6	.;.	L	395	ENSP00000334319:P395L;ENSP00000388393:P395L	ENSP00000334319:P395L	P	-	2	0	PCLO	82622709	0.000000	0.05858	0.000000	0.03702	0.760000	0.43138	-0.630000	0.05502	-0.068000	0.12953	0.655000	0.94253	CCT		0.592	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82784773	G	A	82784773	3	1	27	1	0	0	0	0	1	0	0	0	11583	1000	35	3	14357	3	PCLO	7	82784773	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	27562951	82784773	76353890	18	1747											
GATA4	2626	broad.mit.edu	37	chr8	11607632	11607632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagtccgcctcccgcCgagtgggcctctcctgtgcc	2	10	11	18	3	2	0	0	0	2	0	5	1	4	0	7	1	2	1	7	1	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:11607632C>T	ENST00000335135.4	+	4	1354	c.796C>T	c.(796-798)Cga>Tga	p.R266*	GATA4_ENST00000528712.1_Nonsense_Mutation_p.R60*|GATA4_ENST00000532059.1_Nonsense_Mutation_p.R267*	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	266					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGCCTCCCGCCGAGTGGGCCT	0.632																																						uc011kxc.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	GRCh37	CM051500	GATA4	M		c.(799-801)Cga>Tga		Homo sapiens GATA binding protein 4 (GATA4), mRNA.							53	51	52					8																	11607632		2203	4300	6503	SO:0001587	stop_gained	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607632C>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.796C>T	8.37:g.11607632C>T	ENSP00000334458:p.Arg266*					GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc003wuc.2_Nonsense_Mutation_p.R266*	p.R267*	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	2	1256	+	all_epithelial(15;0.0839)		266					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Nonsense_Mutation	SNP	ENST00000335135.4	37	c.799C>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	38	6.770898	0.97825	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-49.5978	18.1495	0.89669	0.0:1.0:0.0:0.0	.	.	.	.	X	60;60;266;265;267	.	ENSP00000259090:R265X	R	+	1	2	GATA4	11645041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.955000	0.49121	2.507000	0.84556	0.655000	0.94253	CGA		0.632	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		T	11607632	C	T	11607632	4	4	27	1	0	0	0	0	0	1	0	0	6256	644	23	2	806	2	GATA4	8	11607632	Nonsense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		11607632	134756390	19	1748											
SLC18A1	6570	broad.mit.edu	37	chr8	20022464	20022464	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccacccccatgttggcaaAgcagatggaccctggggaga	10	5	14	12	0	0	2	0	0	0	2	0	4	0	3	4	5	1	3	4	5	1	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:20022464A>T	ENST00000276373.5	-	10	1197	c.931T>A	c.(931-933)Ttt>Att	p.F311I	SLC18A1_ENST00000437980.1_Missense_Mutation_p.F311I|SLC18A1_ENST00000381608.4_Missense_Mutation_p.F311I|SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.F311I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	311					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ATGTTGGCAAAGCAGATGGAC	0.612																																						uc011kyq.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(931-933)Ttt>Att		Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.							82	70	74					8																	20022464		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20022464A>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.931T>A	8.37:g.20022464A>T	ENSP00000276373:p.Phe311Ile					SLC18A1_uc003wzm.3_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.2_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.3_Intron|SLC18A1_uc010ltf.3_Non-coding_Transcript	p.F311I	NM_001135691	NP_003044	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	10	1402	-			311					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.931T>A	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721379	0.30503	.	.	ENSG00000036565	ENST00000276373;ENST00000440926;ENST00000437980;ENST00000381608	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.69	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.170003	0.52532	D	0.000067	T	0.68522	0.3010	L	0.33137	0.985	0.46586	D	0.999115	B;P	0.36683	0.09;0.565	B;B	0.38616	0.122;0.277	T	0.58031	-0.7708	10	0.12103	T	0.63	-6.6842	9.5322	0.39200	0.8526:0.0:0.1474:0.0	.	311;311	E9PB33;P54219	.;VMAT1_HUMAN	I	311	ENSP00000276373:F311I;ENSP00000387549:F311I;ENSP00000413361:F311I;ENSP00000371021:F311I	ENSP00000276373:F311I	F	-	1	0	SLC18A1	20066744	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.134000	0.57990	0.396000	0.25283	0.482000	0.46254	TTT		0.612	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			T	20022464	A	T	20022464	3	4	27	1	0	0	0	0	1	0	0	0	14425	72	3	5	674	5	SLC18A1	8	20022464	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	8414832	20022464	126341558	20	1749											
MRPL13	28998	broad.mit.edu	37	chr8	121432169	121432170	+	Frame_Shift_Ins	INS	-	-	T																															agcatgccataaatagctagINSttttacaatctgaaagatat																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:121432169_121432170insT	ENST00000306185.3	-	5	606_607	c.315_316insA	c.(313-318)aaactafs	p.L106fs		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	106					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAAATAGCTAGTTTTACAATCT	0.356																																						uc003ypa.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(313-318)aaactafs		Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001589	frameshift_variant	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121432169_121432170insT	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.316dupA	8.37:g.121432173_121432173dupT	ENSP00000306548:p.Leu106fs					MRPL13_uc010mdf.3_Non-coding_Transcript	p.K105fs	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	628_629	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		105					B2R4R8|Q9UI04	Frame_Shift_Ins	INS	ENST00000306185.3	37	c.315_316insA	CCDS6332.1																																																																																				0.356	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		T	121432170	-	T	121432169	7	5	27	1	0	1	1	0	0	0	0	0	9778	1020	36	0	232	0	MRPL13	8	121432169	Frame_Shift_Ins	INS	-	TCGA-06-0157-01A-01D-1491-08	101409705	121432169	24931853	21	1750											
AQP7	364	broad.mit.edu	37	chr9	33385701	33385701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgcgggggggcaggTcccgggacgggttgatggca	7	6	21	7	3	0	3	0	2	0	1	1	4	1	4	1	7	1	3	1	7	1	1	rs34690144		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr9:33385701T>C	ENST00000537089.1	-	6	731	c.413A>G	c.(412-414)gAc>gGc	p.D138G	AQP7_ENST00000541274.1_Silent_p.G98G|AQP7_ENST00000377425.4_Missense_Mutation_p.D173G|AQP7_ENST00000539936.1_Missense_Mutation_p.D230G			O14520	AQP7_HUMAN	aquaporin 7	230					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGGGGGCAGGTCCCGGGACGG	0.587																																						uc003zst.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(688-690)gAc>gGc		Homo sapiens aquaporin 7 (AQP7), mRNA.							81	86	84					9																	33385701		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385701T>C	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.413A>G	9.37:g.33385701T>C	ENSP00000441619:p.Asp138Gly					AQP7_uc003zsu.1_Missense_Mutation_p.D173G|AQP7_uc010mjs.2_Missense_Mutation_p.D138G|AQP7_uc010mjt.2_Missense_Mutation_p.D138G|AQP7_uc011lny.1_Missense_Mutation_p.D229G|AQP7_uc003zss.3_Missense_Mutation_p.D138G|AQP7_uc011lnz.1_Missense_Mutation_p.D138G|AQP7_uc011loa.1_Silent_p.G98G|AQP7_uc011lnx.1_Missense_Mutation_p.D230G	p.D230G	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	861	-			230					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.689A>G		.	.	.	.	.	.	.	.	.	.	t	24.0	4.477075	0.84640	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.04	5.04	0.67666	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	H	0.97564	4.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68569	-0.5374	10	0.87932	D	0	-33.3312	12.7904	0.57530	0.0:0.0:0.0:1.0	.	229;230;173;230	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	G	138;229;98;230;173;138;229;230;166	ENSP00000441619:D138G;ENSP00000368821:D229G;ENSP00000412868:D98G;ENSP00000297988:D230G;ENSP00000396111:D173G;ENSP00000410138:D138G;ENSP00000368820:D229G;ENSP00000439534:D230G;ENSP00000368817:D166G	ENSP00000297988:D230G	D	-	2	0	AQP7	33375701	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.583000	0.82559	2.118000	0.64928	0.449000	0.29647	GAC		0.587	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		C	33385701	T	C	33385701	3	2	27	1	0	0	0	0	1	0	0	0	831	1667	58	4	347	4	AQP7	9	33385701	Missense_Mutation	SNP	T	TCGA-06-0157-01A-01D-1491-08		33385701	107827730	22	1751											
PTEN	5728	broad.mit.edu	37	chr10	89690819	89690820	+	Frame_Shift_Del	DEL	TA	TA	-																															ttagttgtgctgaaagacatTatgacaccgccaaatttaat																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:89690819_89690820delTA	ENST00000371953.3	+	4	1583_1584	c.226_227delTA	c.(226-228)tatfs	p.Y76fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	76	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Y76fs*1(12)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y76del(2)|p.Y27fs*1(2)|p.H75_T78del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAAGACATTATGACACCGCC	0.302		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		72	Whole gene deletion(37)|Deletion - Frameshift(26)|Unknown(6)|Deletion - In frame(3)	p.0?(37)|p.Y76fs*1(24)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.Y76del(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.H75_T78del(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.H75N(1)|p.F56fs*2(1)	central_nervous_system(21)|prostate(17)|endometrium(7)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|stomach(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(226-228)tatfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690819_89690820delTA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.226_227delTA	10.37:g.89690819_89690820delTA	ENSP00000361021:p.Tyr76fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y76fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1258_1259	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	76			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.226_227delTA	CCDS31238.1																																																																																				0.302	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89690820	TA	-	89690819	7	5	27	1	0	1	0	1	0	0	0	0	12738	1754	61	0	240	0	PTEN	10	89690819	Frame_Shift_Del	DEL	TA	TCGA-06-0157-01A-01D-1491-08		89690819	45843928	23	1752											
HSPA12A	259217	broad.mit.edu	37	chr10	118439024	118439024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaactcacttgcttttccGcaaggcgtgctccacactgt	7	11	7	16	2	1	0	1	0	0	0	3	0	3	0	3	1	3	3	3	1	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:118439024G>A	ENST00000369209.3	-	10	1380	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	426						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGCTTTTCCGCAAGGCGTGC	0.572																																						uc001lct.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1276-1278)Cgg>Tgg		Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.							100	103	102					10																	118439024		2045	4179	6224	SO:0001583	missense	259217						ATP binding	g.chr10:118439024G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1276C>T	10.37:g.118439024G>A	ENSP00000358211:p.Arg426Trp					HSPA12A_uc001lcu.3_Missense_Mutation_p.R343W	p.R426W	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1381	-			426						Missense_Mutation	SNP	ENST00000369209.3	37	c.1276C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255853	0.59321	.	.	ENSG00000165868	ENST00000369209	T	0.50277	0.75	5.95	0.716	0.18191	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.70595	2.14	0.58432	D	0.999992	D	0.89917	1.0	D	0.76575	0.988	T	0.70029	-0.4984	10	0.87932	D	0	.	16.2739	0.82634	0.0:0.0:0.6176:0.3823	.	426	O43301	HS12A_HUMAN	W	426	ENSP00000358211:R426W	ENSP00000358211:R426W	R	-	1	2	HSPA12A	118429014	1.000000	0.71417	0.987000	0.45799	0.668000	0.39293	1.284000	0.33249	-0.110000	0.12022	-0.262000	0.10625	CGG		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		A	118439024	G	A	118439024	3	1	27	1	0	0	0	0	1	0	0	0	7404	1086	38	1	763	1	HSPA12A	10	118439024	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	28748205	118439024	17095723	24	1753											
JAKMIP3	282973	broad.mit.edu	37	chr10	133949482	133949482	+	Frame_Shift_Del	DEL	A	A	-																															agtacaagcctctgctggatAaaaacaagcgcctcagtcgg																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:133949482delA	ENST00000298622.4	+	5	1156	c.1018delA	c.(1018-1020)aaafs	p.K340fs		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	340						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTGCTGGATAAAAACAAGCG	0.443																																						uc001lkx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1018-1020)aaafs		Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.							55	63	60					10																	133949482		1928	4123	6051	SO:0001589	frameshift_variant	282973							g.chr10:133949482delA	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1018delA	10.37:g.133949482delA	ENSP00000298622:p.Lys340fs						p.K340fs	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	1018	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Del	DEL	ENST00000298622.4	37	c.1018delA	CCDS44494.1																																																																																				0.443	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		-	133949482	A	-	133949482	7	5	27	1	0	1	0	1	0	0	0	0	7942	363	13	0	1036	0	JAKMIP3	10	133949482	Frame_Shift_Del	DEL	A	TCGA-06-0157-01A-01D-1491-08	15510458	133949482	1585265	25	1754											
KCNQ1	3784	broad.mit.edu	37	chr11	2466624	2466624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacagcacgcgccgccCggtgttggcgcgcacccacg	6	5	12	18	7	1	0	0	0	1	0	1	0	1	0	3	2	2	3	3	2	1	2	rs370435862		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:2466624C>T	ENST00000155840.5	+	1	404	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	99				TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGCCGCCCGGTGTTGGCG	0.706																																						uc001lwn.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(295-297)cCg>cTg		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	Bepridil(DB01244)|Indapamide(DB00808)						14	15	15					11																	2466624		2171	4250	6421	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2466624C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.296C>T	11.37:g.2466624C>T	ENSP00000155840:p.Pro99Leu					KCNQ1_uc009ydo.1_Missense_Mutation_p.P99L	p.P99L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	0	404	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	99	TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781).				O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.296C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317203	0.81469	.	.	ENSG00000053918	ENST00000496887;ENST00000155840	D;D	0.99843	-7.11;-5.67	3.04	3.04	0.35103	.	0.000000	0.64402	D	0.000003	D	0.99036	0.9670	L	0.60455	1.87	0.80722	D	1	P	0.38335	0.627	B	0.32022	0.139	D	0.99889	1.1130	10	0.72032	D	0.01	-32.0746	11.6866	0.51490	0.0:1.0:0.0:0.0	.	99	P51787	KCNQ1_HUMAN	L	12;99	ENSP00000434560:P12L;ENSP00000155840:P99L	ENSP00000155840:P99L	P	+	2	0	KCNQ1	2423200	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	3.357000	0.52277	1.699000	0.51192	0.462000	0.41574	CCG		0.706	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2466624	C	T	2466624	3	4	27	1	0	0	0	0	1	0	0	0	8082	652	23	2	298	2	KCNQ1	11	2466624	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		2466624	132539892	26	1755											
OR5M8	219484	broad.mit.edu	37	chr11	56258561	56258561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtaacactgcacaagacAggcaggataggaaatgcttt	16	7	11	7	0	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	5	3	rs546898264	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:56258561A>G	ENST00000327216.2	-	1	310	c.286T>C	c.(286-288)Tgt>Cgt	p.C96R		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGCACAAGACAGGCAGGATAG	0.473													A|||	3	0.000599042	0	0	5008	,	,		22492	0.002		0	False		,,,				2504	0.001					uc001nix.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(286-288)Tgt>Cgt		Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.							109	97	101					11																	56258561		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258561A>G	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.286T>C	11.37:g.56258561A>G	ENSP00000323354:p.Cys96Arg					OR8U8_uc001nit.2_Intron	p.C96R	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			0	286	-	Esophageal squamous(21;0.00352)		96					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.286T>C	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	8.952	0.968534	0.18659	.	.	ENSG00000181371	ENST00000327216	T	0.16897	2.31	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000903	T	0.34745	0.0908	H	0.95745	3.715	0.80722	D	1	B	0.26775	0.159	B	0.30105	0.111	T	0.44772	-0.9306	10	0.87932	D	0	-12.9725	11.6945	0.51536	1.0:0.0:0.0:0.0	.	96	Q8NGP6	OR5M8_HUMAN	R	96	ENSP00000323354:C96R	ENSP00000323354:C96R	C	-	1	0	OR5M8	56015137	1.000000	0.71417	0.098000	0.21074	0.039000	0.13416	7.346000	0.79347	1.693000	0.51124	0.440000	0.28878	TGT		0.473	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		G	56258561	A	G	56258561	3	3	27	1	0	0	0	0	1	0	0	0	11176	188	7	4	653	4	OR5M8	11	56258561	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	53791937	56258561	78747955	27	1756											
VWF	7450	broad.mit.edu	37	chr12	6122757	6122757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggcctgccaagatcCgtagctgggctgcatcgtag	6	9	14	12	2	0	1	0	0	0	1	2	1	1	1	3	2	4	6	3	2	3	2	rs545304154		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:6122757C>T	ENST00000261405.5	-	32	5764	c.5510G>A	c.(5509-5511)cGg>cAg	p.R1837Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1837	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCCAAGATCCGTAGCTGGGC	0.532																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5509-5511)cGg>cAg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						96	88	91					12																	6122757		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6122757C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5510G>A	12.37:g.6122757C>T	ENSP00000261405:p.Arg1837Gln					VWF_uc010set.1_Intron	p.R1837Q	NM_000552	NP_000543	P04275	VWF_HUMAN			31	5760	-			1837			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5510G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	15.87	2.960595	0.53400	.	.	ENSG00000110799	ENST00000261405	D	0.84223	-1.82	5.21	4.32	0.51571	von Willebrand factor, type A (3);	0.282507	0.25414	N	0.030856	T	0.79137	0.4395	L	0.53561	1.675	0.80722	D	1	P	0.46142	0.873	B	0.37508	0.252	T	0.78516	-0.2174	10	0.54805	T	0.06	.	8.9836	0.35980	0.0:0.8304:0.0:0.1695	.	1837	P04275	VWF_HUMAN	Q	1837	ENSP00000261405:R1837Q	ENSP00000261405:R1837Q	R	-	2	0	VWF	5993018	0.035000	0.19736	0.739000	0.30968	0.042000	0.13812	0.771000	0.26633	1.196000	0.43129	0.650000	0.86243	CGG		0.532	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6122757	C	T	6122757	3	4	27	1	0	0	0	0	1	0	0	0	17243	652	23	2	3015	2	VWF	12	6122757	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		6122757	127729138	28	1757											
TAS2R13	50838	broad.mit.edu	37	chr12	11061487	11061487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaataagaagaccaaGgttcctagcagtatcatcag	17	10	7	7	0	2	2	2	0	0	2	3	2	3	2	2	1	1	3	2	1	8	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:11061487G>A	ENST00000390677.2	-	1	674	c.411C>T	c.(409-411)acC>acT	p.T137T	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	137					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T137T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353																																						uc001qzg.1																			1	Substitution - coding silent(1)	p.T137T(2)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(409-411)acC>acT		Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.							66	69	68					12																	11061487		2203	4300	6503	SO:0001819	synonymous_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061487G>A	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.411C>T	12.37:g.11061487G>A						PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	p.T137T	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN			0	675	-			137					Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	c.411C>T	CCDS8635.1																																																																																				0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			A	11061487	G	A	11061487	2	1	27	1	0	0	0	0	0	0	0	1	15564	987	35	3		3	TAS2R13	12	11061487	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	4938730	11061487	122790408	29	1758											
TRPV4	59341	broad.mit.edu	37	chr12	110236432	110236432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccccaatcttgcccGtcttggcagccatcatgagg	8	9	8	16	1	4	1	2	1	2	0	4	1	4	1	4	2	2	1	4	2	1	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:110236432G>A	ENST00000418703.2	-	5	1233	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	TRPV4_ENST00000392719.2_Missense_Mutation_p.T333M|TRPV4_ENST00000536838.1_Missense_Mutation_p.T346M|TRPV4_ENST00000346520.2_Missense_Mutation_p.T380M|TRPV4_ENST00000541794.1_Missense_Mutation_p.T333M|TRPV4_ENST00000544971.1_Missense_Mutation_p.T333M|TRPV4_ENST00000261740.2_Missense_Mutation_p.T380M|TRPV4_ENST00000537083.1_Missense_Mutation_p.T380M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	380					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATCTTGCCCGTCTTGGCAGC	0.612																																						uc001tpj.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1138-1140)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							63	56	58					12																	110236432		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236432G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1139C>T	12.37:g.110236432G>A	ENSP00000406191:p.Thr380Met					TRPV4_uc001tpg.2_Missense_Mutation_p.T346M|TRPV4_uc021rdp.1_Missense_Mutation_p.T380M|TRPV4_uc001tph.2_Missense_Mutation_p.T333M|TRPV4_uc001tpi.2_Missense_Mutation_p.T333M|TRPV4_uc001tpk.2_Missense_Mutation_p.T380M	p.T380M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			4	1234	-			380					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1139C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552178	0.27739	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.9	4.01	0.46588	Ankyrin repeat-containing domain (3);	0.213658	0.42821	N	0.000658	T	0.33962	0.0881	N	0.17594	0.5	0.19300	N	0.999971	B;D;P;B;P	0.56035	0.29;0.974;0.495;0.358;0.514	B;B;B;B;B	0.36378	0.02;0.223;0.079;0.101;0.069	T	0.18587	-1.0332	10	0.40728	T	0.16	-21.8359	9.2952	0.37811	0.1642:0.0:0.8358:0.0	.	380;380;333;333;346	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	380;380;333;380;333;380;333;346	ENSP00000406191:T380M;ENSP00000261740:T380M;ENSP00000376480:T333M;ENSP00000319003:T380M;ENSP00000443611:T333M;ENSP00000442738:T380M;ENSP00000442167:T333M;ENSP00000444336:T346M	ENSP00000261740:T380M	T	-	2	0	TRPV4	108720815	0.989000	0.36119	0.992000	0.48379	0.856000	0.48823	2.295000	0.43576	1.211000	0.43351	-0.126000	0.14955	ACG		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110236432	G	A	110236432	3	1	27	1	0	0	0	0	1	0	0	0	16595	1145	40	1	1520	1	TRPV4	12	110236432	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	99174945	110236432	23615463	30	1759											
HPD	3242	broad.mit.edu	37	chr12	122292681	122292681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccgcatgattttggcGccccgttcccgtgctttctg	2	13	11	15	4	1	1	0	1	1	0	3	1	3	1	4	2	1	4	4	2	0	4	rs61742674	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:122292681G>A	ENST00000289004.4	-	7	377	c.342C>T	c.(340-342)ggC>ggT	p.G114G	HPD_ENST00000543163.1_Silent_p.G75G|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	114					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGATTTTGGCGCCCCGTTCCC	0.597													G|||	12	0.00239617	0.0091	0	5008	,	,		18950	0		0	False		,,,				2504	0					uc001ubj.3																			0		p.R113L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(340-342)ggC>ggT		Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	Nitisinone(DB00348)	G	,	50,4356	50.9+/-86.3	0,50,2153	146	125	132		225,342	-5.8	0.9	12	dbSNP_129	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPD	NM_001171993.1,NM_002150.2	,	0,50,6453	AA,AG,GG		0.0,1.1348,0.3844	,	75/355,114/394	122292681	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292681G>A	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.342C>T	12.37:g.122292681G>A						HPD_uc001ubk.3_Silent_p.G75G	p.G114G	NM_002150	NP_001165464	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	382	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		114					A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	c.342C>T	CCDS9224.1																																																																																				0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		A	122292681	G	A	122292681	2	1	27	1	0	0	0	0	0	0	0	1	7332	1074	38	1		1	HPD	12	122292681	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	12056249	122292681	11559214	31	1760											
COL4A1	1282	broad.mit.edu	37	chr13	110895031	110895031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaactcaccttttgtccCttcactccatggcagtcaca	8	11	6	16	1	3	0	3	0	0	0	5	0	5	0	3	2	1	2	3	2	1	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr13:110895031C>T	ENST00000375820.4	-	2	256	c.135G>A	c.(133-135)aaG>aaA	p.K45K	COL4A1_ENST00000543140.1_Silent_p.K45K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	45					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGTCCCTTCACTCCAT	0.408																																						uc001vqw.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(133-135)aaG>aaA		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							276	281	279					13																	110895031		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110895031C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.135G>A	13.37:g.110895031C>T							p.K45K	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		1	257	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	45					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.135G>A	CCDS9511.1																																																																																				0.408	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110895031	C	T	110895031	2	4	27	1	0	0	0	0	0	0	0	1	3689	680	24	3		3	COL4A1	13	110895031	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08		110895031	4274847	32	1761											
KCNH5	27133	broad.mit.edu	37	chr14	63316465	63316465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggacctgatagagttttAggaagtcccgtacattattc	10	14	10	7	1	0	2	0	1	0	1	2	4	1	4	2	2	1	2	2	2	5	7			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr14:63316465A>T	ENST00000322893.7	-	8	1743	c.1475T>A	c.(1474-1476)cTa>cAa	p.L492Q	KCNH5_ENST00000394968.1_Missense_Mutation_p.L434Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.L492Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	492					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATAGAGTTTTAGGAAGTCCCG	0.393																																						uc001xfx.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1474-1476)cTa>cAa		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							170	150	157					14																	63316465		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63316465A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1475T>A	14.37:g.63316465A>T	ENSP00000321427:p.Leu492Gln					KCNH5_uc001xfy.3_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q	p.L492Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1526	-			492					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1475T>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272639	0.80580	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.97089	-4.24;-4.24;-4.24	5.21	5.21	0.72293	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.97579	0.9207	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.973;0.973;0.999	P;P;D	0.67900	0.894;0.894;0.954	D	0.98393	1.0564	10	0.87932	D	0	.	14.5507	0.68065	1.0:0.0:0.0:0.0	.	434;492;492	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	Q	492;492;434	ENSP00000321427:L492Q;ENSP00000395439:L492Q;ENSP00000378419:L434Q	ENSP00000321427:L492Q	L	-	2	0	KCNH5	62386218	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.283000	0.95860	2.075000	0.62263	0.528000	0.53228	CTA		0.393	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63316465	A	T	63316465	3	4	27	1	0	0	0	0	1	0	0	0	8035	420	15	5	1541	5	KCNH5	14	63316465	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08		63316465	44033075	33	1762											
IGF1R	3480	broad.mit.edu	37	chr15	99250943	99250943	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcacggtcattaccGagtacttgctgctgttccga	8	11	9	13	3	2	0	2	0	0	0	3	2	3	0	3	1	5	5	3	1	3	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr15:99250943G>T	ENST00000268035.6	+	2	858	c.247G>T	c.(247-249)Gag>Tag	p.E83*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.E83*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	83					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGTCATTACCGAGTACTTGCT	0.597																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(247-249)Gag>Tag		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						110	78	89					15																	99250943		2197	4297	6494	SO:0001587	stop_gained	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99250943G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.247G>T	15.37:g.99250943G>T	ENSP00000268035:p.Glu83*					IGF1R_uc010urq.2_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.3_Nonsense_Mutation_p.E83*	p.E83*	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		1	297	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		83					B1B5Y2|Q14CV2|Q9UCC0	Nonsense_Mutation	SNP	ENST00000268035.6	37	c.247G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	45	11.513897	0.99570	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.36	5.36	0.76844	.	0.104008	0.39407	N	0.001374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.4346	0.90640	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000268035:E83X	E	+	1	0	IGF1R	97068466	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.667000	0.98616	2.659000	0.90383	0.563000	0.77884	GAG		0.597	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99250943	G	T	99250943	4	4	27	1	0	0	0	0	0	1	0	0	7571	1059	37	5	253	5	IGF1R	15	99250943	Nonsense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		99250943	3280449	34	1763											
WDR90	197335	broad.mit.edu	37	chr16	701986	701986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgccggcacccacGtgttgactcacgagtcggct	5	8	13	15	5	1	1	1	1	0	0	2	2	1	1	2	3	2	5	2	3	0	1	rs201213089		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:701986G>A	ENST00000293879.4	+	9	1000	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	WDR90_ENST00000549091.1_Missense_Mutation_p.V334M|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	334										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGCACCCACGTGTTGACTCA	0.687																																						uc002cii.1																			0		p.H333N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1000-1002)Gtg>Atg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.		G	MET/VAL	4,4046		0,4,2021	10	13	12		1000	-1.1	0	16		12	0,8320		0,0,4160	no	missense	WDR90	NM_145294.4	21	0,4,6181	AA,AG,GG		0.0,0.0988,0.0323	probably-damaging	334/1749	701986	4,12366	2025	4160	6185	SO:0001583	missense	197335							g.chr16:701986G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1000G>A	16.37:g.701986G>A	ENSP00000293879:p.Val334Met					WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_Non-coding_Transcript	p.V334M	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			8	1054	+		Hepatocellular(780;0.0218)	334					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1000G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806026	0.50421	9.88E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.31769	1.51;1.48	4.46	-1.12	0.09808	.	0.221807	0.27284	U	0.020072	T	0.46678	0.1405	M	0.79475	2.455	0.09310	N	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.65874	0.939;0.613;0.916	T	0.35201	-0.9798	10	0.52906	T	0.07	.	7.763	0.28963	0.4797:0.0:0.5203:0.0	.	334;335;334	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	334	ENSP00000448122:V334M;ENSP00000293879:V334M	ENSP00000293879:V334M	V	+	1	0	WDR90	641987	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.275000	0.08525	-0.395000	0.07715	0.561000	0.74099	GTG		0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	701986	G	A	701986	3	1	27	1	0	0	0	0	1	0	0	0	17334	1145	40	1	1034	1	WDR90	16	701986	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		701986	89652767	35	1764											
RHBDL1	9028	broad.mit.edu	37	chr16	727080	727080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgggcaccgtgcccGcgcctggcgcttcctcacct	3	6	10	22	5	1	0	1	0	0	0	2	0	2	0	8	2	1	2	8	2	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:727080G>A	ENST00000219551.2	+	3	758	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RHBDL1_ENST00000352681.3_Missense_Mutation_p.R179H|LA16c-313D11.9_ENST00000571933.1_RNA|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	244					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CACCGTGCCCGCGCCTGGCGC	0.617																																						uc002cis.1																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(730-732)cGc>cAc		Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.							52	61	58					16																	727080		2199	4298	6497	SO:0001583	missense	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:727080G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.731G>A	16.37:g.727080G>A	ENSP00000219551:p.Arg244His					RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H	p.R244H	NM_003961	NP_003952	O75783	RHBL1_HUMAN			2	758	+		Hepatocellular(780;0.0218)	244					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	c.731G>A	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497047	0.26861	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.11495	2.77;2.77	4.52	3.56	0.40772	Peptidase S54, rhomboid domain (1);	0.081019	0.49916	D	0.000123	T	0.11239	0.0274	N	0.10782	0.045	0.42186	D	0.991702	D;D;D	0.62365	0.991;0.991;0.98	P;P;B	0.55260	0.772;0.772;0.372	T	0.14504	-1.0470	10	0.87932	D	0	-15.7369	11.2008	0.48741	0.0911:0.0:0.9089:0.0	.	179;244;179	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	H	179;179;244	ENSP00000344206:R179H;ENSP00000219551:R244H	ENSP00000219551:R244H	R	+	2	0	RHBDL1	667081	1.000000	0.71417	0.139000	0.22197	0.027000	0.11550	4.917000	0.63369	0.900000	0.36469	-0.259000	0.10710	CGC		0.617	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		A	727080	G	A	727080	3	1	27	1	0	0	0	0	1	0	0	0	13321	1087	38	1	741	1	RHBDL1	16	727080	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	25094	727080	89627673	36	1765											
SLC12A4	6560	broad.mit.edu	37	chr16	67984224	67984224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcagaggggctcacccGgaggaaggggatgatgttgt	9	7	19	6	1	1	2	1	1	0	1	1	6	1	5	1	6	1	3	1	6	1	1	rs200235448		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:67984224G>A	ENST00000316341.3	-	12	1767	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	SLC12A4_ENST00000422611.2_Missense_Mutation_p.R545W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R543W|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R543W|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R512W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R495W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R537W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	543					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCTCACCCGGAGGAAGGGG	0.642																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1633-1635)Cgg>Tgg		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						75	67	69					16																	67984224		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984224G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1627C>T	16.37:g.67984224G>A	ENSP00000318557:p.Arg543Trp					SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc002euz.2_Missense_Mutation_p.R543W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	p.R545W	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	10	1673	-		Ovarian(137;0.192)	543					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1633C>T	CCDS10855.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.43	2.829841	0.50845	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14	5.11	4.14	0.48551	Amino acid permease domain (1);	0.046320	0.85682	D	0.000000	D	0.97161	0.9072	M	0.79926	2.475	0.58432	D	0.999995	B;B;B;B;B;B	0.25743	0.052;0.101;0.027;0.133;0.083;0.101	B;B;B;B;B;B	0.21151	0.033;0.022;0.019;0.031;0.031;0.022	D	0.95105	0.8233	10	0.62326	D	0.03	.	4.9497	0.14008	0.1155:0.0:0.4964:0.3881	.	545;543;512;537;543;543	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	545;512;537;543;543	ENSP00000395983:R545W;ENSP00000438334:R512W;ENSP00000445962:R537W;ENSP00000343374:R543W;ENSP00000318557:R543W	ENSP00000318557:R543W	R	-	1	2	SLC12A4	66541725	0.933000	0.31639	1.000000	0.80357	0.995000	0.86356	1.112000	0.31172	1.115000	0.41800	0.655000	0.94253	CGG		0.642	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67984224	G	A	67984224	3	1	27	1	0	0	0	0	1	0	0	0	14385	1115	39	2	1682	2	SLC12A4	16	67984224	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	67257144	67984224	22370529	37	1766											
CDH15	1013	broad.mit.edu	37	chr16	89261311	89261311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccccagtgtgccgccttaCgacacagccctcatctatga	9	8	8	16	2	2	1	1	1	1	0	2	3	2	1	5	0	3	0	5	0	2	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:89261311C>T	ENST00000289746.2	+	14	2258	c.2193C>T	c.(2191-2193)taC>taT	p.Y731Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	731					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCGCCTTACGACACAGCCC	0.637																																						uc002fmt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2191-2193)taC>taT		Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.							35	31	32					16																	89261311		2182	4292	6474	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261311C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2193C>T	16.37:g.89261311C>T							p.Y731Y	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	13	2270	+			731						Silent	SNP	ENST00000289746.2	37	c.2193C>T	CCDS10976.1																																																																																				0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		T	89261311	C	T	89261311	2	4	27	1	0	0	0	0	0	0	0	1	3100	547	19	1		1	CDH15	16	89261311	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	21277087	89261311	1093442	38	1767											
DNAH9	1770	broad.mit.edu	37	chr17	11648135	11648135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcactacgactggggcctaCgggccatcaagtccgtgctg	8	8	12	13	3	2	0	2	0	0	0	3	1	3	0	3	3	3	1	3	3	3	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:11648135C>T	ENST00000262442.4	+	31	6201	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2045W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2045	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGGGCCTACGGGCCATCAA	0.557																																						uc002gne.3																			0		p.R2045R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6133-6135)Cgg>Tgg		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							59	54	56					17																	11648135		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648135C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6133C>T	17.37:g.11648135C>T	ENSP00000262442:p.Arg2045Trp					DNAH9_uc010coo.3_Missense_Mutation_p.R1339W	p.R2045W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	30	6201	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2045			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6133C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856571	0.71834	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.68025	-0.3;-0.3	5.46	-0.559	0.11792	.	0.000000	0.64402	D	0.000002	D	0.87533	0.6201	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90991	0.4835	10	0.87932	D	0	.	16.8946	0.86097	0.707:0.293:0.0:0.0	.	2045	Q9NYC9	DYH9_HUMAN	W	2045;2045;627	ENSP00000262442:R2045W;ENSP00000414874:R2045W	ENSP00000262442:R2045W	R	+	1	2	DNAH9	11588860	1.000000	0.71417	0.827000	0.32855	0.950000	0.60333	1.163000	0.31798	-0.299000	0.08909	-0.175000	0.13238	CGG		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11648135	C	T	11648135	3	4	27	1	0	0	0	0	1	0	0	0	4608	527	19	1	6255	1	DNAH9	17	11648135	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		11648135	69547075	39	1768											
SNX11	29916	broad.mit.edu	37	chr17	46198838	46198838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatgctgtgcctttggacCctggtcagttagaaacagtt	9	13	10	9	0	2	1	2	0	0	1	2	2	2	2	2	2	3	3	2	2	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:46198838C>A	ENST00000393405.2	+	8	1135	c.781C>A	c.(781-783)Cct>Act	p.P261T	SNX11_ENST00000452859.2_Missense_Mutation_p.P117T|SNX11_ENST00000359238.2_Missense_Mutation_p.P261T|SNX11_ENST00000582104.1_Missense_Mutation_p.P253T|SNX11_ENST00000439357.2_Missense_Mutation_p.P200T|SNX11_ENST00000580219.1_Missense_Mutation_p.P253T	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	261					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCTTTGGACCCTGGTCAGTT	0.522																																						uc002inf.1																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						c.(781-783)Cct>Act		Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.							134	125	128					17																	46198838		2203	4300	6503	SO:0001583	missense	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46198838C>A	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.781C>A	17.37:g.46198838C>A	ENSP00000377059:p.Pro261Thr					SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002inh.1_Missense_Mutation_p.P261T	p.P261T	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN			7	1135	+			261					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	c.781C>A	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691129	0.48097	.	.	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.65732	-0.17;-0.17	6.16	3.82	0.43975	.	0.491195	0.21064	N	0.080778	T	0.51669	0.1688	L	0.44542	1.39	0.24564	N	0.993951	B;B;B	0.27823	0.19;0.099;0.099	B;B;B	0.27608	0.081;0.037;0.06	T	0.52275	-0.8597	10	0.72032	D	0.01	-6.7131	8.4828	0.33054	0.0:0.7494:0.1601:0.0905	.	200;253;261	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	T	117;261;200;261	ENSP00000377059:P261T;ENSP00000352175:P261T	ENSP00000352175:P261T	P	+	1	0	SNX11	43553837	0.652000	0.27349	0.546000	0.28166	0.930000	0.56654	0.190000	0.17057	1.583000	0.49898	0.650000	0.86243	CCT		0.522	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			A	46198838	C	A	46198838	3	1	27	1	0	0	0	0	1	0	0	0	14882	623	22	5	803	5	SNX11	17	46198838	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	34550703	46198838	34996372	40	1769											
TNRC6C	57690	broad.mit.edu	37	chr17	76089149	76089149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccccatagctggtcacGtgccaaatctgacagtgata	10	11	9	11	1	2	2	1	2	1	0	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:76089149G>A	ENST00000588061.1	+	17	4833	c.4106G>A	c.(4105-4107)cGt>cAt	p.R1369H	TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1366H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1369H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1366H|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1366H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1369H			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1369	Silencing domain; interaction with CNOT1 and PAN3.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGGTCACGTGCCAAATCT	0.502																																						uc002jud.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4105-4107)cGt>cAt		Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.							67	65	66					17																	76089149		2010	4190	6200	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089149G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4106G>A	17.37:g.76089149G>A	ENSP00000468647:p.Arg1369His					TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	p.R1369H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4706	+			1369					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4106G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214265	0.95104	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.97	5.97	0.96955	.	0.053825	0.85682	D	0.000000	T	0.35038	0.0918	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	P;P	0.59288	0.855;0.66	T	0.00245	-1.1882	10	0.42905	T	0.14	-9.4663	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1366;1369	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	H	1369;1366;1366;1369;1369;1366	ENSP00000336783:R1366H;ENSP00000301624:R1369H;ENSP00000440310:R1369H;ENSP00000442421:R1366H	ENSP00000301624:R1369H	R	+	2	0	TNRC6C	73600744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	2.831000	0.97527	0.655000	0.94253	CGT		0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		A	76089149	G	A	76089149	3	1	27	1	0	0	0	0	1	0	0	0	16339	1145	40	1	4156	1	TNRC6C	17	76089149	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	29890311	76089149	5106061	41	1770											
UTS2R	2837	broad.mit.edu	37	chr17	80332216	80332216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagatggcgctgacccccGagtccccgagcagcttccct	7	6	11	17	3	0	2	0	1	0	1	2	5	2	2	5	1	2	3	5	1	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:80332216G>A	ENST00000313135.2	+	1	64	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	6					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCTGACCCCCGAGTCCCCGAG	0.721																																						uc010wvl.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(16-18)Gag>Aag		Homo sapiens urotensin 2 receptor (UTS2R), mRNA.							5	7	6					17																	80332216		2033	4088	6121	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332216G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.16G>A	17.37:g.80332216G>A	ENSP00000323516:p.Glu6Lys						p.E6K	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		0	16	+	Breast(20;0.00106)|all_neural(118;0.0804)		6					B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.16G>A	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524689	0.44969	.	.	ENSG00000181408	ENST00000313135	T	0.68181	-0.31	4.82	2.79	0.32731	.	0.349089	0.22457	N	0.059818	T	0.46946	0.1419	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.12837	0.008	T	0.20075	-1.0286	10	0.10902	T	0.67	.	8.0713	0.30691	0.0827:0.3063:0.611:0.0	.	6	Q9UKP6	UR2R_HUMAN	K	6	ENSP00000323516:E6K	ENSP00000323516:E6K	E	+	1	0	UTS2R	77925505	0.529000	0.26322	0.005000	0.12908	0.031000	0.12232	3.767000	0.55288	1.148000	0.42385	-0.150000	0.13652	GAG		0.721	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		A	80332216	G	A	80332216	3	1	27	1	0	0	0	0	1	0	0	0	17103	1059	37	2	18	2	UTS2R	17	80332216	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	4243067	80332216	862994	42	1771											
LAMA1	284217	broad.mit.edu	37	chr18	7023335	7023335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggaacacaagattcGccaggcactgttgggtttcc	10	9	11	11	1	1	1	1	0	0	1	3	2	2	2	2	3	1	3	2	3	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr18:7023335G>A	ENST00000389658.3	-	19	2622	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	843	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACAAGATTCGCCAGGCACTG	0.527																																						uc002knm.3																			0		p.G843V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2527-2529)ggC>ggT		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102	94	96					18																	7023335		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7023335G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2529C>T	18.37:g.7023335G>A						LAMA1_uc010wzj.2_Silent_p.G319G	p.G843G	NM_005559	NP_005550	P25391	LAMA1_HUMAN			18	2623	-		Colorectal(10;0.172)	843			Laminin EGF-like 7.			Silent	SNP	ENST00000389658.3	37	c.2529C>T	CCDS32787.1																																																																																				0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7023335	G	A	7023335	2	1	27	1	0	0	0	0	0	0	0	1	8605	1074	38	1		1	LAMA1	18	7023335	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		7023335	71053913	43	1772											
MUC16	94025	broad.mit.edu	37	chr19	9063659	9063659	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagtgtgtcattgtcaaAgaggttgtgcttgacgtgtc	7	15	14	5	1	2	3	2	2	0	1	3	3	2	3	0	1	1	3	0	1	1	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:9063659A>T	ENST00000397910.4	-	3	23990	c.23787T>A	c.(23785-23787)tcT>tcA	p.S7929S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7931	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATTGTCAAAGAGGTTGTGC	0.458																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23785-23787)tcT>tcA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							233	216	222					19																	9063659		2037	4196	6233	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063659A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23787T>A	19.37:g.9063659A>T							p.S7929S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	23991	-			7931			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.23787T>A	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9063659	A	T	9063659	2	4	27	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9063659	Silent	SNP	A	TCGA-06-0157-01A-01D-1491-08		9063659	50065324	44	1773											
FFAR1	2864	broad.mit.edu	37	chr19	35842837	35842837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctggggggtgtgcgCggccatctgggccctcgtcc	2	10	15	14	3	1	0	0	0	1	0	4	0	3	0	4	5	1	0	4	5	1	2	rs199506594		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:35842837C>T	ENST00000246553.2	+	1	393	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	128					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGGGTGTGCGCGGCCATCTGG	0.667																																						uc002nzc.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(382-384)gCg>gTg		Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	Icosapent(DB00159)						72	72	72					19																	35842837		2203	4300	6503	SO:0001583	missense	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842837C>T	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.383C>T	19.37:g.35842837C>T	ENSP00000246553:p.Ala128Val						p.A128V	NM_005303	NP_005294	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		0	393	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		128					Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	c.383C>T	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976058	0.00452	.	.	ENSG00000126266	ENST00000246553	T	0.38077	1.16	4.23	-2.02	0.07388	GPCR, rhodopsin-like superfamily (1);	0.778565	0.10642	N	0.650883	T	0.11196	0.0273	N	0.01874	-0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.33979	-0.9847	10	0.02654	T	1	-1.8853	9.9347	0.41543	0.0:0.5236:0.0:0.4764	.	128	O14842	FFAR1_HUMAN	V	128	ENSP00000246553:A128V	ENSP00000246553:A128V	A	+	2	0	FFAR1	40534677	0.046000	0.20272	0.801000	0.32222	0.048000	0.14542	0.034000	0.13776	-0.829000	0.04268	-0.367000	0.07326	GCG		0.667	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		T	35842837	C	T	35842837	3	4	27	1	0	0	0	0	1	0	0	0	5827	768	27	1	385	1	FFAR1	19	35842837	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	26779178	35842837	23286146	45	1774											
ZFP82	284406	broad.mit.edu	37	chr19	36884449	36884449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagtaagttgtcctcgtaCcctaaaagccttcccacatt	11	11	6	13	1	0	1	0	0	0	1	3	1	2	1	4	0	2	3	4	0	4	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:36884449C>T	ENST00000392161.3	-	5	1035	c.793G>A	c.(793-795)Gta>Ata	p.V265I	ZFP82_ENST00000392171.1_Missense_Mutation_p.V265I	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V265L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTCGTACCCTAAAAGCC	0.433																																						uc002ody.1																			1	Substitution - Missense(1)	p.V265L(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(793-795)Gta>Ata		Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.							154	154	154					19																	36884449		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884449C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.793G>A	19.37:g.36884449C>T	ENSP00000431265:p.Val265Ile						p.V265I	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			4	1028	-			265					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.793G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910211	0.33721	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07444	3.19;3.19	4.47	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001955	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	P	0.52031	0.688	T	0.40156	-0.9578	10	0.24483	T	0.36	.	4.4827	0.11774	0.156:0.5997:0.1522:0.0921	.	265	Q8N141	ZFP82_HUMAN	I	265	ENSP00000431265:V265I;ENSP00000446080:V265I	ENSP00000431265:V265I	V	-	1	0	ZFP82	41576289	0.000000	0.05858	0.997000	0.53966	0.973000	0.67179	-2.014000	0.01449	2.319000	0.78375	0.655000	0.94253	GTA		0.433	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		T	36884449	C	T	36884449	3	4	27	1	0	0	0	0	1	0	0	0	17650	507	18	3	809	3	ZFP82	19	36884449	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	1041612	36884449	22244534	46	1775											
MEIS3	56917	broad.mit.edu	37	chr19	47910342	47910342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccctgtacctgtgcGgttggattgatcgatcatag	6	13	10	12	2	1	1	1	1	0	0	3	3	2	2	4	2	2	2	4	2	2	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:47910342G>A	ENST00000558555.1	-	10	1175	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	MEIS3_ENST00000331559.5_Missense_Mutation_p.R359C|MEIS3_ENST00000441740.2_Missense_Mutation_p.R313C|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.R376C|MEIS3_ENST00000561096.1_Missense_Mutation_p.R418C|MEIS3_ENST00000559524.1_Missense_Mutation_p.R376C			Q99687	MEIS3_HUMAN	Meis homeobox 3	330					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTACCTGTGCGGTTGGATTGA	0.612																																						uc002pgq.3																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(1231-1233)Cgc>Tgc		Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.							80	44	56					19																	47910342		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47910342G>A	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.988C>T	19.37:g.47910342G>A	ENSP00000454073:p.Arg330Cys					MEIS3_uc002pgo.3_Missense_Mutation_p.R129C|MEIS3_uc002pgp.3_Missense_Mutation_p.R162C|MEIS3_uc002pgr.3_Missense_Mutation_p.R198C|MEIS3_uc002pgs.3_Missense_Mutation_p.R376C|MEIS3_uc002pgt.3_Missense_Mutation_p.R313C|MEIS3_uc010eld.3_Missense_Mutation_p.R376C	p.R411C	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	9	1297	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	330					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	24.2	4.507250	0.85282	.	.	ENSG00000105419	ENST00000331559;ENST00000441740;ENST00000437609	D	0.83992	-1.79	4.24	3.11	0.35812	.	0.139230	0.46145	D	0.000315	D	0.88407	0.6428	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.80764	0.994;0.899;0.911;0.96;0.994	D	0.88845	0.3315	10	0.87932	D	0	-19.1425	11.2505	0.49024	0.0:0.0:0.8169:0.1831	.	222;330;313;376;205	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	C	376;313;7	ENSP00000388667:R313C	ENSP00000333552:R376C	R	-	1	0	MEIS3	52602154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.986000	0.49370	2.365000	0.80145	0.436000	0.28706	CGC		0.612	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		A	47910342	G	A	47910342	3	1	27	1	0	0	0	0	1	0	0	0	9469	1116	39	2	151	2	MEIS3	19	47910342	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	11025893	47910342	11218641	47	1776											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129355	52129355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagctgcttgcttcctgCgggctttcactctaaggaaa	7	12	9	13	1	2	0	1	0	1	0	4	1	4	1	2	2	4	4	2	2	2	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:52129355C>T	ENST00000534261.2	-	9	1793	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R465H|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R465H|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R465H|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.R465H			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	465					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTGCTTCCTGCGGGCTTTCAC	0.527																																						uc002pxe.3																			0		p.A464A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1393-1395)cGc>cAc		Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.							112	103	106					19																	52129355		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52129355C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1394G>A	19.37:g.52129355C>T	ENSP00000473238:p.Arg465His						p.R465H	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	7	1533	-		all_neural(266;0.0726)	465						Missense_Mutation	SNP	ENST00000534261.2	37	c.1394G>A	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277019	0.23307	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.61742	0.08;0.08	3.12	-2.69	0.06022	.	3.368560	0.01528	N	0.018668	T	0.59018	0.2163	L	0.33485	1.01	0.09310	N	1	D	0.89917	1.0	P	0.57324	0.818	T	0.53365	-0.8449	10	0.42905	T	0.14	.	7.3793	0.26845	0.0:0.3901:0.0:0.6099	.	465	O15389	SIGL5_HUMAN	H	465	ENSP00000222107:R465H;ENSP00000415200:R465H	ENSP00000222107:R465H	R	-	2	0	SIGLEC5	56821167	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.067000	0.14510	-0.498000	0.06632	-0.145000	0.13849	CGC		0.527	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		T	52129355	C	T	52129355	3	4	27	1	0	0	0	0	1	0	0	0	14311	768	27	1	269	1	SIGLEC5	19	52129355	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	4219013	52129355	6999628	48	1777											
ZNF419	79744	broad.mit.edu	37	chr19	58004984	58004984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtggaaaattctatagCcacaagtccaaccttatcaa	16	10	6	9	0	2	0	1	0	1	0	3	2	3	1	3	1	2	0	3	1	9	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58004984C>T	ENST00000221735.7	+	5	1245	c.1059C>T	c.(1057-1059)agC>agT	p.S353S	ZNF419_ENST00000415379.2_Silent_p.S307S|ZNF419_ENST00000424930.2_Silent_p.S354S|ZNF419_ENST00000442920.2_Silent_p.S340S|ZNF419_ENST00000426954.2_Silent_p.S341S|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Silent_p.S341S|ZNF419_ENST00000347466.6_Silent_p.S321S			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AATTCTATAGCCACAAGTCCA	0.413																																						uc010ety.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1060-1062)agC>agT		Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.							79	83	82					19																	58004984		2202	4300	6502	SO:0001819	synonymous_variant	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004984C>T	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1059C>T	19.37:g.58004984C>T						ZNF419_uc002qov.2_Silent_p.S353S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S	p.S354S	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	4	1302	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	353					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	ENST00000221735.7	37	c.1062C>T	CCDS54326.1																																																																																				0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		T	58004984	C	T	58004984	2	4	27	1	0	0	0	0	0	0	0	1	17893	738	26	3		3	ZNF419	19	58004984	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	5875629	58004984	1123999	49	1778											
ZNF773	374928	broad.mit.edu	37	chr19	58018486	58018486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtggaaaattctatagCcacaagtccagccttatcaa	15	10	7	9	0	2	0	1	0	1	0	3	2	3	1	3	1	2	0	3	1	8	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58018486C>T	ENST00000282292.4	+	4	1163	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.S340S	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AATTCTATAGCCACAAGTCCA	0.418																																						uc002qox.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1021-1023)agC>agT		Homo sapiens zinc finger protein 773 (ZNF773), mRNA.							101	106	104					19																	58018486		2203	4300	6503	SO:0001819	synonymous_variant	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018486C>T	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1023C>T	19.37:g.58018486C>T						ZNF773_uc002qoy.3_Silent_p.S340S|ZNF773_uc021vcl.1_Intron	p.S341S	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	3	1163	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	341					Q96DL8	Silent	SNP	ENST00000282292.4	37	c.1023C>T	CCDS33134.1																																																																																				0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		T	58018486	C	T	58018486	2	4	27	1	0	0	0	0	0	0	0	1	18143	738	26	3		3	ZNF773	19	58018486	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	13502	58018486	1110497	50	1779											
C20orf27	54976	broad.mit.edu	37	chr20	3735070	3735070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcctgcaccgtcacgCgcacacaggtgccagtgcca	7	4	13	17	5	1	0	1	0	0	0	1	0	1	0	4	2	3	2	4	2	0	0	rs374709259		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:3735070C>T	ENST00000379772.3	-	5	1208	c.398G>A	c.(397-399)cGc>cAc	p.R133H	C20orf27_ENST00000217195.8_Missense_Mutation_p.R158H	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CACCGTCACGCGCACACAGGT	0.602																																						uc002wjh.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(472-474)cGc>cAc		Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.		C	HIS/ARG	0,4406		0,0,2203	117	100	106		473	3.9	0.9	20		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	C20orf27	NM_001039140.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	158/200	3735070	1,13005	2203	4300	6503	SO:0001583	missense	54976							g.chr20:3735070C>T	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.398G>A	20.37:g.3735070C>T	ENSP00000369097:p.Arg133His					C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Missense_Mutation_p.R133H	p.R158H	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN			4	702	-			133					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.473G>A	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047907	0.36085	0.0	1.16E-4	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672	.	.	.	4.82	3.86	0.44501	.	0.489617	0.16493	N	0.212032	T	0.26340	0.0643	N	0.19112	0.55	0.29882	N	0.825937	B;B	0.15930	0.001;0.015	B;B	0.06405	0.0;0.002	T	0.13072	-1.0523	9	0.42905	T	0.14	-6.8665	7.8463	0.29426	0.0:0.813:0.0:0.187	.	133;158	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	H	133;158;133	.	ENSP00000217195:R158H	R	-	2	0	C20orf27	3683070	0.463000	0.25799	0.878000	0.34440	0.507000	0.33981	0.769000	0.26604	1.373000	0.46208	0.561000	0.74099	CGC		0.602	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		T	3735070	C	T	3735070	3	4	27	1	0	0	0	0	1	0	0	0	2107	768	27	1	134	1	C20orf27	20	3735070	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		3735070	59290450	51	1780											
HAO1	54363	broad.mit.edu	37	chr20	7864254	7864254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactgtcagatcttggaaaCggccaaaggatttttcctca	11	11	9	10	1	3	1	2	0	1	1	4	3	4	3	2	3	1	1	2	3	2	3	rs373454999		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:7864254C>T	ENST00000378789.3	-	8	1150	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	367					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.V367F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTGGAAACGGCCAAAGGA	0.373																																						uc002wmw.1																			1	Substitution - Missense(1)	p.V367F(2)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1099-1101)Gtt>Att		Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.		C	ILE/VAL	0,4406		0,0,2203	157	142	147		1099	3.7	1	20		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAO1	NM_017545.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	367/371	7864254	1,13005	2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7864254C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1099G>A	20.37:g.7864254C>T	ENSP00000368066:p.Val367Ile						p.V367I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			7	1123	-			367					Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.1099G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044063	0.19748	0.0	1.16E-4	ENSG00000101323	ENST00000378789	T	0.30448	1.53	5.64	3.69	0.42338	.	0.703764	0.14461	N	0.318165	T	0.12263	0.0298	N	0.02539	-0.55	0.23487	N	0.997574	B	0.11235	0.004	B	0.06405	0.002	T	0.29458	-1.0011	10	0.18710	T	0.47	-15.8898	9.8105	0.40820	0.0:0.7719:0.1539:0.0742	.	367	Q9UJM8	HAOX1_HUMAN	I	367	ENSP00000368066:V367I	ENSP00000368066:V367I	V	-	1	0	HAO1	7812254	0.739000	0.28196	0.990000	0.47175	0.996000	0.88848	0.936000	0.28938	0.708000	0.31955	0.591000	0.81541	GTT		0.373	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			T	7864254	C	T	7864254	3	4	27	1	0	0	0	0	1	0	0	0	6951	536	19	1	17	1	HAO1	20	7864254	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	4129184	7864254	55161266	52	1781											
TMEM90B	79953	broad.mit.edu	37	chr20	24565630	24565630	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttctacttgtcccatgagGtaaggcctccttggtctgtc	5	14	9	13	0	2	1	0	1	2	0	5	1	4	1	4	3	1	1	4	3	2	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:24565630G>A	ENST00000376862.3	+	3	1251		c.e3+1		SYNDIG1_ENST00000482637.1_Splice_Site	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1						intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GTCCCATGAGGTAAGGCCTCC	0.627																																						uc002wtw.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.e3+1		Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.							130	117	122					20																	24565630		2203	4300	6503	SO:0001630	splice_region_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24565630G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.618+1G>A	20.37:g.24565630G>A							p.E206_splice	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			3	1251	+			206					Q6IA30|Q9H514	Splice_Site	SNP	ENST00000376862.3	37	c.618_splice	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910407	0.72983	.	.	ENSG00000101463	ENST00000376862	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0241	0.64575	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNDIG1	24513630	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.639000	0.98448	2.382000	0.81193	0.561000	0.74099	.		0.627	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893	Intron	A	24565630	G	A	24565630	5	1	27	1	0	0	0	0	0	0	1	0	16216	1275	44	3	625	3	TMEM90B	20	24565630	Splice_Site	SNP	G	TCGA-06-0157-01A-01D-1491-08	16701376	24565630	38459890	53	1782											
PTK6	5753	broad.mit.edu	37	chr20	62168644	62168644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacatacttggggcccagGtgagcctggtcccgggacac	7	6	13	15	1	0	1	0	1	0	0	1	2	1	2	4	5	2	0	4	5	1	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:62168644G>T	ENST00000217185.2	-	1	51	c.24C>A	c.(22-24)caC>caA	p.H8Q	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	8					cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	TGGGGCCCAGGTGAGCCTGGT	0.716																																						uc002yfg.3																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(22-24)caC>caA		Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.							15	16	15					20																	62168644		2182	4286	6468	SO:0001583	missense	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62168644G>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.24C>A	20.37:g.62168644G>T	ENSP00000217185:p.His8Gln					PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.H8Q	p.H8Q	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		0	64	-	all_cancers(38;2.51e-11)		8					B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	c.24C>A	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026065	0.35701	.	.	ENSG00000101213	ENST00000217185	T	0.73469	-0.75	4.48	2.21	0.28008	Src homology-3 domain (2);	0.436137	0.16578	U	0.208311	T	0.54398	0.1856	L	0.27053	0.805	0.20403	N	0.9999	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.29458	-1.0011	10	0.17832	T	0.49	.	5.4324	0.16460	0.1516:0.2108:0.6377:0.0	.	8;8	B4DWV1;Q13882	.;PTK6_HUMAN	Q	8	ENSP00000217185:H8Q	ENSP00000217185:H8Q	H	-	3	2	PTK6	61639088	0.000000	0.05858	0.003000	0.11579	0.207000	0.24258	0.472000	0.22116	0.876000	0.35872	0.491000	0.48974	CAC		0.716	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			T	62168644	G	T	62168644	3	4	27	1	0	0	0	0	1	0	0	0	12764	1252	44	5	1363	5	PTK6	20	62168644	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	37603014	62168644	856876	54	1783											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744289	31744289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaaggaggttctggggcgGtagcaggaggtctggcaggg	8	6	21	6	1	2	0	0	0	2	0	2	2	2	2	0	9	2	5	0	9	2	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:31744289G>A	ENST00000399889.2	-	1	268	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	81	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602																																						uc002ynz.4																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(241-243)taC>taT		Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.							60	60	60					21																	31744289		2203	4300	6503	SO:0001819	synonymous_variant	337959					intermediate filament		g.chr21:31744289G>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.243C>T	21.37:g.31744289G>A							p.Y81Y	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			0	269	-			81			5 X 10 AA approximate repeats.			Silent	SNP	ENST00000399889.2	37	c.243C>T	CCDS13589.1																																																																																				0.602	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			A	31744289	G	A	31744289	2	1	27	1	0	0	0	0	0	0	0	1	8523	1256	44	3		3	KRTAP13-2	21	31744289	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		31744289	16385606	55	1784											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117748	46117748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcccgccgcgtgcccgTcccctcctgctgtgtcccca	2	7	9	23	5	0	0	0	0	0	0	3	0	3	0	9	0	2	1	9	0	0	0			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:46117748T>C	ENST00000400365.3	+	1	662	c.632T>C	c.(631-633)gTc>gCc	p.V211A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	211	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CGCGTGCCCGTCCCCTCCTGC	0.726																																						uc002zfw.1																			0				large_intestine(1)|lung(8)	9						c.(631-633)gTc>gCc		Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.							52	67	62					21																	46117748		2200	4292	6492	SO:0001583	missense	386685					keratin filament		g.chr21:46117748T>C	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.632T>C	21.37:g.46117748T>C	ENSP00000383216:p.Val211Ala					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V211A	NM_198699	NP_941972	P60413	KR10C_HUMAN			0	662	+			211			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.632T>C	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	t	0.458	-0.890437	0.02491	.	.	ENSG00000189169	ENST00000400365	T	0.01422	4.91	2.72	-5.44	0.02624	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.48725	-0.9010	9	0.11182	T	0.66	.	4.4553	0.11640	0.0:0.2183:0.2613:0.5205	.	211	P60413	KR10C_HUMAN	A	211	ENSP00000383216:V211A	ENSP00000383216:V211A	V	+	2	0	KRTAP10-12	44942176	0.000000	0.05858	0.007000	0.13788	0.021000	0.10359	-2.077000	0.01371	-1.287000	0.02381	0.248000	0.18094	GTC		0.726	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		C	46117748	T	C	46117748	3	2	27	1	0	0	0	0	1	0	0	0	8508	1667	58	4	634	4	KRTAP10-12	21	46117748	Missense_Mutation	SNP	T	TCGA-06-0157-01A-01D-1491-08	14373459	46117748	2012147	56	1785											
EGFL6	25975	broad.mit.edu	37	chrX	13637337	13637337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctggtccaaaggaaagcGctaacttccaaactggaaca	15	8	8	10	1	1	0	0	0	1	0	3	2	3	2	2	3	4	1	2	3	5	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:13637337G>A	ENST00000361306.1	+	9	1415	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	EGFL6_ENST00000380602.3_Silent_p.A386A	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	386					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGGAAAGCGCTAACTTCCA	0.388																																						uc004cvj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(1156-1158)gcG>gcA		Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.							128	116	120					X																	13637337		2203	4300	6503	SO:0001819	synonymous_variant	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13637337G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1158G>A	X.37:g.13637337G>A						EGFL6_uc004cvi.3_Silent_p.A386A|EGFL6_uc011mik.1_Silent_p.A287A	p.A386A	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN			8	1445	+			386					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	ENST00000361306.1	37	c.1158G>A	CCDS14155.1																																																																																				0.388	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		A	13637337	G	A	13637337	2	1	27	1	0	0	0	0	0	0	0	1	4963	1074	38	1		1	EGFL6	23	13637337	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		13637337	141633223	57	1786											
RPS6KA3	6197	broad.mit.edu	37	chrX	20193367	20193367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaactaaacccccgaaaaAgctgatgtgcattagcacta	17	7	6	11	1	0	1	0	1	0	0	0	2	0	1	2	0	5	3	2	0	8	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:20193367A>T	ENST00000379565.3	-	14	1349	c.1142T>A	c.(1141-1143)cTt>cAt	p.L381H	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.L352H|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.L353H|RPS6KA3_ENST00000479809.1_5'Flank|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.L353H	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	381	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L381H(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	CCCCCGAAAAAGCTGATGTGC	0.393																																						uc004czu.3																			1	Substitution - Missense(1)	p.L381H(2)	central_nervous_system(1)	breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1141-1143)cTt>cAt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.							128	110	116					X																	20193367		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20193367A>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1142T>A	X.37:g.20193367A>T	ENSP00000368884:p.Leu381His					RPS6KA3_uc011mjk.2_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.3_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.2_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.2_Missense_Mutation_p.L353H	p.L381H	NM_004586	NP_004577	P51812	KS6A3_HUMAN			13	1142	-			381			AGC-kinase C-terminal.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.1142T>A	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.161575	0.57368	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.05	3.86	0.44501	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	0.994;0.997;1.0;0.76	D;D;D;P	0.79108	0.928;0.94;0.992;0.589	T	0.69339	-0.5171	10	0.62326	D	0.03	.	10.5066	0.44836	0.8527:0.0:0.0:0.1473	.	353;352;353;381	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	H	381;353;352;353	ENSP00000368884:L381H;ENSP00000440220:L353H;ENSP00000368865:L352H;ENSP00000444837:L353H	ENSP00000368865:L352H	L	-	2	0	RPS6KA3	20103288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	0.573000	0.29400	0.437000	0.28790	CTT		0.393	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		T	20193367	A	T	20193367	3	4	27	1	0	0	0	0	1	0	0	0	13652	72	3	5	1116	5	RPS6KA3	23	20193367	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	6556030	20193367	135077193	58	1787											
XK	7504	broad.mit.edu	37	chrX	37553630	37553630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaaatgccaaaaaatGgcctctcagaggagattgag	16	6	12	7	0	1	4	1	1	1	3	2	5	1	4	2	3	1	1	2	3	4	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:37553630G>T	ENST00000378616.3	+	2	540	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	113					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCCAAAAAATGGCCTCTCAGA	0.488																																						uc004ddq.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(337-339)Ggc>Tgc		Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.							83	63	70					X																	37553630		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553630G>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.337G>T	X.37:g.37553630G>T	ENSP00000367879:p.Gly113Cys						p.G113C	NM_021083	NP_066569	P51811	XK_HUMAN			1	419	+		all_lung(315;0.175)	113					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.337G>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785669	0.90282	.	.	ENSG00000047597	ENST00000378616	T	0.73363	-0.74	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.86502	0.5948	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86937	0.2077	10	0.72032	D	0.01	-21.5184	19.4805	0.95008	0.0:0.0:1.0:0.0	.	113	P51811	XK_HUMAN	C	113	ENSP00000367879:G113C	ENSP00000367879:G113C	G	+	1	0	XK	37438569	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.434000	0.97515	2.555000	0.86185	0.513000	0.50165	GGC		0.488	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		T	37553630	G	T	37553630	3	4	27	1	0	0	0	0	1	0	0	0	17428	1348	47	5	343	5	XK	23	37553630	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	17360263	37553630	117716930	59	1788											
SYP	6855	broad.mit.edu	37	chrX	49048172	49048172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtctccttaaacaCgaaccacaggttgccgaccc	10	7	7	17	2	1	0	0	0	1	0	2	2	1	0	6	1	4	1	6	1	3	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:49048172C>T	ENST00000263233.4	-	6	736	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	SYP_ENST00000479808.1_Missense_Mutation_p.V222M|SYP_ENST00000538567.1_Missense_Mutation_p.V104M	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	222	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)	p.V222M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TCCTTAAACACGAACCACAGG	0.682																																						uc004dmz.1																			1	Substitution - Missense(1)	p.V222M(2)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15						c.(664-666)Gtg>Atg		Homo sapiens synaptophysin (SYP), mRNA.							8	9	9					X																	49048172		1852	3776	5628	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49048172C>T	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.664G>A	X.37:g.49048172C>T	ENSP00000263233:p.Val222Met					SYP_uc011mmz.1_Missense_Mutation_p.V104M	p.V222M	NM_003179	NP_003170	P08247	SYPH_HUMAN			5	680	-		all_lung(315;0.00016)	222			MARVEL.		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.664G>A	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053160	0.93793	.	.	ENSG00000102003	ENST00000263233;ENST00000538567;ENST00000479808	T;T;T	0.69175	-0.38;-0.38;-0.38	5.5	5.5	0.81552	Marvel (1);	0.063907	0.64402	D	0.000008	T	0.68504	0.3008	M	0.61703	1.905	0.80722	D	1	D	0.57257	0.979	P	0.44518	0.452	T	0.74688	-0.3581	10	0.87932	D	0	-26.3233	17.1004	0.86648	0.0:1.0:0.0:0.0	.	222	P08247	SYPH_HUMAN	M	222;104;222	ENSP00000263233:V222M;ENSP00000437456:V104M;ENSP00000418169:V222M	ENSP00000263233:V222M	V	-	1	0	SYP	48935116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.569000	0.82380	2.303000	0.77524	0.600000	0.82982	GTG		0.682	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		T	49048172	C	T	49048172	3	4	27	1	0	0	0	0	1	0	0	0	15458	536	19	1	281	1	SYP	23	49048172	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	11494542	49048172	106222388	60	1789											
AWAT1	158833	broad.mit.edu	37	chrX	69455983	69455983	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcagggactatttcccCattacggtaagtatctcttc	10	13	6	12	1	2	0	1	0	1	0	5	1	3	1	2	2	1	2	2	2	4	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:69455983C>A	ENST00000374521.3	+	3	290	c.249C>A	c.(247-249)ccC>ccA	p.P83P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	83					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACTATTTCCCCATTACGGTAA	0.483																																						uc004dxy.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(247-249)ccC>ccA		Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.							147	122	130					X																	69455983		2203	4300	6503	SO:0001819	synonymous_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69455983C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.249C>A	X.37:g.69455983C>A							p.P83P	NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN			2	290	+			83					Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	c.249C>A	CCDS35321.1																																																																																				0.483	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		A	69455983	C	A	69455983	2	1	27	1	0	0	0	0	0	0	0	1	1234	581	21	5		5	AWAT1	23	69455983	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	20407811	69455983	85814577	61	1790											
NONO	4841	broad.mit.edu	37	chrX	70516705	70516705	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccttgcctatagggaaCgagagcagccacccagattt	12	7	11	11	1	0	2	0	0	0	2	0	5	0	4	4	2	5	1	4	2	4	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:70516705C>T	ENST00000276079.8	+	7	956	c.751C>T	c.(751-753)Cga>Tga	p.R251*	NONO_ENST00000373856.3_Nonsense_Mutation_p.R251*|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Nonsense_Mutation_p.R162*|NONO_ENST00000373841.1_Nonsense_Mutation_p.R251*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	251	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTATAGGGAACGAGAGCAGCC	0.493			T	TFE3	papillary renal cancer																																	uc004dzo.3				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(751-753)Cga>Tga		Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.							55	49	51					X																	70516705		2203	4300	6503	SO:0001587	stop_gained	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70516705C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.751C>T	X.37:g.70516705C>T	ENSP00000276079:p.Arg251*					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Nonsense_Mutation_p.R251*|NONO_uc004dzp.3_Nonsense_Mutation_p.R251*|NONO_uc011mpv.2_Nonsense_Mutation_p.R162*|NONO_uc004dzq.3_Nonsense_Mutation_p.R120*	p.R251*	NM_001145408	NP_001138882	Q15233	NONO_HUMAN			7	1461	+	Renal(35;0.156)		251			DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	c.751C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	35	5.460986	0.96240	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858	.	.	.	5.06	-0.313	0.12754	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2747	16.0556	0.80801	0.7181:0.2819:0.0:0.0	.	.	.	.	X	162;251;251;251;159	.	ENSP00000276079:R251X	R	+	1	2	NONO	70433430	1.000000	0.71417	0.818000	0.32626	0.984000	0.73092	1.868000	0.39509	-0.424000	0.07382	0.529000	0.55759	CGA		0.493	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		T	70516705	C	T	70516705	4	4	27	1	0	0	0	0	0	1	0	0	10534	528	19	1	769	1	NONO	23	70516705	Nonsense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	1060722	70516705	84753855	62	1791											
GPR101	83550	broad.mit.edu	37	chrX	136113395	136113395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaggagcaggtaaccgcGgcgctgggtcatcttggacg	9	7	16	9	4	2	1	1	0	1	1	2	3	2	3	1	5	2	3	1	5	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:136113395G>A	ENST00000298110.1	-	1	438	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGTAACCGCGGCGCTGGGTC	0.597																																						uc011mwh.2																			0		p.R146H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(439-441)Cgc>Tgc		Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.							56	44	48					X																	136113395		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113395G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.439C>T	X.37:g.136113395G>A	ENSP00000298110:p.Arg147Cys						p.R147C	NM_054021	NP_473362	Q96P66	GP101_HUMAN			0	439	-	Acute lymphoblastic leukemia(192;0.000127)		147					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.439C>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.924024	0.52653	.	.	ENSG00000165370	ENST00000298110	T	0.41065	1.01	5.04	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32970	N	0.005426	T	0.54095	0.1837	M	0.75884	2.315	0.39406	D	0.966669	D	0.76494	0.999	P	0.60609	0.877	T	0.57225	-0.7848	10	0.87932	D	0	-6.5313	5.2831	0.15686	0.1117:0.0:0.5351:0.3531	.	147	Q96P66	GP101_HUMAN	C	147	ENSP00000298110:R147C	ENSP00000298110:R147C	R	-	1	0	GPR101	135941061	1.000000	0.71417	0.878000	0.34440	0.955000	0.61496	1.811000	0.38942	0.887000	0.36136	0.600000	0.82982	CGC		0.597	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			A	136113395	G	A	136113395	3	1	27	1	0	0	0	0	1	0	0	0	6622	1116	39	2	1090	2	GPR101	23	136113395	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	65596690	136113395	19157165	63	1792											
TDRD10	126668	broad.mit.edu	37	chr1	154516937	154516937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctccaccgttatgcgCgggactcgctgtctggcaga	6	8	15	12	4	1	1	0	0	1	1	3	3	2	2	2	3	1	4	2	3	1	1	rs151222618		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:154516937C>T	ENST00000368480.3	+	10	826	c.741C>T	c.(739-741)cgC>cgT	p.R247R	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.R247R			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	247	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTATGCGCGGGACTCGCT	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		18663	0		0	False		,,,				2504	0					uc009wow.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(739-741)cgC>cgT		Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.		C	,	4,4402	8.1+/-20.4	0,4,2199	35	33	34		741,741	-6.3	0	1	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TDRD10	NM_001098475.1,NM_182499.3	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	247/367,247/352	154516937	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154516937C>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.741C>T	1.37:g.154516937C>T						TDRD10_uc001ffd.3_Silent_p.R247R|TDRD10_uc001ffe.3_Silent_p.R168R	p.R247R	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1579	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		247			Tudor.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.741C>T	CCDS41406.1																																																																																				0.632	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		T	154516937	C	T	154516937	2	4	28	1	0	0	0	0	0	0	0	1	15728	755	27	1		1	TDRD10	1	154516937	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		154516937	94733684	1	1793											
LY9	4063	broad.mit.edu	37	chr1	160784327	160784327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaaggttgtctggtTgtttaacacatccatcatta	12	13	8	8	0	2	1	1	0	1	1	3	2	3	1	1	2	1	3	1	2	3	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:160784327T>G	ENST00000263285.6	+	4	878	c.848T>G	c.(847-849)tTg>tGg	p.L283W	LY9_ENST00000392203.4_Missense_Mutation_p.L283W|LY9_ENST00000368037.5_Missense_Mutation_p.L283W|LY9_ENST00000368041.2_Missense_Mutation_p.L243W|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.L283W|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	283	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTCTGGTTGTTTAACACA	0.547																																						uc001fwu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)tTg>tGg		Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.							109	98	102					1																	160784327		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784327T>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.848T>G	1.37:g.160784327T>G	ENSP00000263285:p.Leu283Trp					LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.3_Missense_Mutation_p.L283W|LY9_uc001fww.3_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.3_5'UTR	p.L283W	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	898	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		283			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.848T>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650325	0.47362	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01705	4.68;4.68	3.8	1.43	0.22495	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00998	0.0033	L	0.38175	1.15	0.41381	D	0.98755	P;P;P;D;D;P	0.59357	0.953;0.953;0.889;0.985;0.973;0.953	B;B;B;P;P;B	0.50192	0.43;0.43;0.173;0.527;0.634;0.43	T	0.64748	-0.6334	9	0.72032	D	0.01	-1.8261	2.5551	0.04758	0.2339:0.1273:0.0:0.6388	.	283;243;243;283;283;283	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	W	283;283;283;283;243;243;185	ENSP00000342921:L283W;ENSP00000263285:L283W	ENSP00000263285:L283W	L	+	2	0	LY9	159050951	0.008000	0.16893	0.564000	0.28396	0.382000	0.30200	0.286000	0.18902	0.550000	0.28991	0.460000	0.39030	TTG		0.547	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		G	160784327	T	G	160784327	3	3	28	1	0	0	0	0	1	0	0	0	9101	1821	63	5	994	5	LY9	1	160784327	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	6267390	160784327	88466294	2	1794											
CR2	1380	broad.mit.edu	37	chr1	207647215	207647215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtggagctagttaataCgtcctgccaagatgggtgag	10	10	14	7	2	0	2	0	1	0	1	1	3	1	3	2	2	3	2	2	2	4	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:207647215C>T	ENST00000367058.3	+	11	2237	c.2048C>T	c.(2047-2049)aCg>aTg	p.T683M	CR2_ENST00000458541.2_Missense_Mutation_p.T656M|CR2_ENST00000367059.3_Missense_Mutation_p.T683M|CR2_ENST00000367057.3_Missense_Mutation_p.T742M	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	683	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAGTTAATACGTCCTGCCAA	0.438																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2047-2049)aCg>aTg		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							104	99	101					1																	207647215		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207647215C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2048C>T	1.37:g.207647215C>T	ENSP00000356025:p.Thr683Met					CR2_uc001hfv.3_Missense_Mutation_p.T742M|CR2_uc009xch.3_Missense_Mutation_p.T683M	p.T683M	NM_001877	NP_001868	P20023	CR2_HUMAN			10	2167	+			683			Sushi 11.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2048C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082474	0.20309	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.66	-1.05	0.10036	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.43590	0.1254	N	0.22421	0.69	0.09310	N	1	B;B;B	0.25563	0.129;0.115;0.061	B;B;B	0.27608	0.081;0.078;0.063	T	0.37478	-0.9704	9	0.66056	D	0.02	.	5.3338	0.15947	0.0:0.4117:0.147:0.4413	.	683;683;742	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	M	683;742;683;656	ENSP00000356025:T683M;ENSP00000356024:T742M;ENSP00000356026:T683M;ENSP00000404222:T656M	ENSP00000356024:T742M	T	+	2	0	CR2	205713838	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.072000	0.03434	-0.215000	0.10063	-0.137000	0.14449	ACG		0.438	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207647215	C	T	207647215	3	4	28	1	0	0	0	0	1	0	0	0	3842	536	19	1	2271	1	CR2	1	207647215	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	46862888	207647215	41603406	3	1795											
ACBD3	64746	broad.mit.edu	37	chr1	226347010	226347010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgttgggctgcatactGctggaactgcacggcagtct	8	11	12	10	1	1	0	0	0	1	0	1	1	1	1	0	3	6	6	0	3	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:226347010G>C	ENST00000366812.5	-	5	832	c.778C>G	c.(778-780)Cag>Gag	p.Q260E	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	260	Gln-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GCTGCATACTGCTGGAACTGC	0.448																																						uc001hpy.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(778-780)Cag>Gag		Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.							183	156	165					1																	226347010		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226347010G>C	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.778C>G	1.37:g.226347010G>C	ENSP00000355777:p.Gln260Glu						p.Q260E	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	825	-	Breast(184;0.158)		260			Gln-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.778C>G	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421622	0.25639	.	.	ENSG00000182827	ENST00000366812	T	0.21191	2.02	5.73	5.73	0.89815	.	0.054976	0.85682	D	0.000000	T	0.26557	0.0649	M	0.64630	1.985	0.80722	D	1	P	0.47762	0.9	B	0.44224	0.444	T	0.08513	-1.0718	10	0.06236	T	0.91	-19.032	19.8989	0.96978	0.0:0.0:1.0:0.0	.	260	Q9H3P7	GCP60_HUMAN	E	260	ENSP00000355777:Q260E	ENSP00000355777:Q260E	Q	-	1	0	ACBD3	224413633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.706000	0.92434	0.555000	0.69702	CAG		0.448	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		C	226347010	G	C	226347010	3	2	28	1	0	0	0	0	1	0	0	0	123	1328	46	5	824	5	ACBD3	1	226347010	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	18699795	226347010	22903611	4	1796											
NUP133	55746	broad.mit.edu	37	chr1	229577744	229577744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccaagctgatccgcttgTagcaggtctttcacctccgg	6	12	9	14	2	2	1	1	1	1	0	5	1	5	1	4	2	2	4	4	2	2	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:229577744T>C	ENST00000261396.3	-	26	3469	c.3378A>G	c.(3376-3378)ctA>ctG	p.L1126L	RP5-1068B5.3_ENST00000434311.1_lincRNA|NUP133_ENST00000537506.1_Silent_p.L1110L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1126					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATCCGCTTGTAGCAGGTCTT	0.343																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3376-3378)ctA>ctG		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							91	101	98					1																	229577744		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577744T>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3378A>G	1.37:g.229577744T>C							p.L1126L	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			25	3470	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1126					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.3378A>G	CCDS1579.1																																																																																				0.343	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		C	229577744	T	C	229577744	2	2	28	1	0	0	0	0	0	0	0	1	10754	1625	57	4		4	NUP133	1	229577744	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08	3230734	229577744	19672877	5	1797											
OR13G1	441933	broad.mit.edu	37	chr1	247836129	247836129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttcggtatgatgcttGttgtgcagatgatgtccaca	8	14	11	8	1	1	3	0	2	1	1	3	3	2	3	1	1	2	5	1	1	1	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:247836129G>T	ENST00000359688.2	-	1	236	c.215C>A	c.(214-216)aCa>aAa	p.T72K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATGATGCTTGTTGTGCAGAT	0.443																																						uc001idi.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(214-216)aCa>aAa		Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.							87	64	72					1																	247836129		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836129G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.215C>A	1.37:g.247836129G>T	ENSP00000352717:p.Thr72Lys						p.T72K	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	215	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		72					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.215C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634270	0.67130	.	.	ENSG00000197437	ENST00000359688	T	0.00397	7.57	4.16	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.342273	0.21321	N	0.076466	T	0.00552	0.0018	H	0.95712	3.71	0.09310	N	1	B	0.32893	0.389	B	0.29598	0.104	T	0.31586	-0.9938	10	0.87932	D	0	-18.4512	8.5043	0.33177	0.0:0.1688:0.6566:0.1746	.	72	Q8NGZ3	O13G1_HUMAN	K	72	ENSP00000352717:T72K	ENSP00000352717:T72K	T	-	2	0	OR13G1	245902752	0.023000	0.18921	0.001000	0.08648	0.881000	0.50899	1.957000	0.40392	0.471000	0.27319	0.558000	0.71614	ACA		0.443	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		T	247836129	G	T	247836129	3	4	28	1	0	0	0	0	1	0	0	0	10942	1377	48	5	712	5	OR13G1	1	247836129	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	18258385	247836129	1414492	6	1798											
OR2L8	391190	broad.mit.edu	37	chr1	248112665	248112665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccatattccttattgccGatccagggccatcaatcatt	10	13	5	13	1	2	0	2	0	0	0	5	1	5	0	5	1	1	0	5	1	3	5	rs565612069		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:248112665G>A	ENST00000357191.3	+	1	506	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTTATTGCCGATCCAGGGCC	0.478													G|||	1	0.000199681	0	0	5008	,	,		23016	0.001		0	False		,,,				2504	0					uc001idt.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(505-507)cGa>cAa		Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.							228	148	175					1																	248112665		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112665G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.506G>A	1.37:g.248112665G>A	ENSP00000349719:p.Arg169Gln					OR2L13_uc001ids.3_Intron	p.R169Q	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	506	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		169					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.506G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	7.265	0.606008	0.14002	.	.	ENSG00000196936	ENST00000357191	T	0.37411	1.2	1.79	0.818	0.18778	GPCR, rhodopsin-like superfamily (1);	1.479880	0.05398	N	0.540099	T	0.25791	0.0628	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.18871	0.023	T	0.25710	-1.0124	10	0.31617	T	0.26	.	3.7289	0.08485	0.2532:0.2372:0.5096:0.0	.	169	Q8NGY9	OR2L8_HUMAN	Q	169	ENSP00000349719:R169Q	ENSP00000349719:R169Q	R	+	2	0	OR2L8	246179288	0.000000	0.05858	0.754000	0.31244	0.859000	0.49053	0.015000	0.13355	1.005000	0.39183	0.479000	0.44913	CGA		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			A	248112665	G	A	248112665	3	1	28	1	0	0	0	0	1	0	0	0	11009	1058	37	2	508	2	OR2L8	1	248112665	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	276536	248112665	1137956	7	1799											
SLC3A1	6519	broad.mit.edu	37	chr2	44527119	44527119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctttaggaaattttaCggttctggctcacaaagggt	10	15	9	7	1	4	0	2	0	2	0	4	1	4	1	0	4	1	2	0	4	4	6	rs200001296		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:44527119C>T	ENST00000260649.6	+	5	977	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	SLC3A1_ENST00000409294.1_5'Flank|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301W|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	301					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGAAATTTTACGGTTCTGGCT	0.363													C|||	1	0.000199681	0	0	5008	,	,		19119	0		0	False		,,,				2504	0.001					uc002ruc.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(901-903)Cgg>Tgg		Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	L-Cystine(DB00138)	C	TRP/ARG	2,4404	6.2+/-15.9	0,2,2201	179	179	179		901	4.4	0.8	2		179	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC3A1	NM_000341.3	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	301/686	44527119	3,13003	2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44527119C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.901C>T	2.37:g.44527119C>T	ENSP00000260649:p.Arg301Trp					SLC3A1_uc002rty.3_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.3_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.4_Missense_Mutation_p.R23W	p.R301W	NM_000341	NP_000332	Q07837	SLC31_HUMAN			4	979	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	301					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.901C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219261	0.39201	4.54E-4	1.16E-4	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.36	4.4	0.53042	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.498699	0.23476	N	0.047771	D	0.98943	0.9641	M	0.92169	3.28	0.22001	N	0.999421	D;D;D;D;D	0.76494	0.994;0.997;0.999;0.997;0.999	P;P;D;P;P	0.63192	0.806;0.873;0.912;0.863;0.873	D	0.95895	0.8910	10	0.72032	D	0.01	-4.21	11.9258	0.52819	0.535:0.465:0.0:0.0	.	301;301;301;301;301	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	W	301;301;237;301;301;301;301;23;79	ENSP00000260649:R301W;ENSP00000387308:R301W;ENSP00000387337:R301W;ENSP00000386954:R301W;ENSP00000386620:R301W;ENSP00000386709:R23W;ENSP00000391642:R79W	ENSP00000260649:R301W	R	+	1	2	SLC3A1	44380623	0.008000	0.16893	0.811000	0.32455	0.124000	0.20399	0.621000	0.24418	1.047000	0.40274	0.655000	0.94253	CGG		0.363	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		T	44527119	C	T	44527119	3	4	28	1	0	0	0	0	1	0	0	0	14626	527	19	1	919	1	SLC3A1	2	44527119	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		44527119	198672254	8	1800											
TSPYL6	388951	broad.mit.edu	37	chr2	54483145	54483145	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccggggcggtgggaaCacgattggctccaagcggcc	8	4	18	11	4	0	0	0	0	0	0	1	3	1	2	3	7	3	1	3	7	3	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:54483145C>G	ENST00000317802.7	-	1	264	c.144G>C	c.(142-144)gtG>gtC	p.V48V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	48					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGGTGGGAACACGATTGGCT	0.607																																						uc002rxr.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(142-144)gtG>gtC		Homo sapiens TSPY-like 6 (TSPYL6), mRNA.							75	86	83					2																	54483145		1950	4138	6088	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54483145C>G	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.144G>C	2.37:g.54483145C>G						ACYP2_uc002rxq.4_Intron	p.V48V	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN			0	265	-			48					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.144G>C	CCDS42682.1																																																																																				0.607	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		G	54483145	C	G	54483145	2	3	28	1	0	0	0	0	0	0	0	1	16660	465	17	5		5	TSPYL6	2	54483145	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	9956026	54483145	188716228	9	1801											
C2orf62	375307	broad.mit.edu	37	chr2	219222293	219222293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgttcttctctgagaCgctggccatggtctcagaca	7	12	11	11	1	3	2	1	1	3	2	5	4	3	2	1	2	1	3	1	2	0	2	rs369378162		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:219222293C>T	ENST00000289388.3	+	3	184	c.155C>T	c.(154-156)aCg>aTg	p.T52M	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		52					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCTGAGACGCTGGCCATG	0.577																																						uc002vhr.3																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(154-156)aCg>aTg		Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	43	40	41		155	4.3	0.9	2		41	0,8600		0,0,4300	no	missense	C2orf62	NM_198559.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	52/388	219222293	1,13005	2203	4300	6503	SO:0001583	missense	375307							g.chr2:219222293C>T																												ENST00000289388.3:c.155C>T	2.37:g.219222293C>T	ENSP00000289388:p.Thr52Met						p.T52M	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	184	+		Renal(207;0.0915)	52						Missense_Mutation	SNP	ENST00000289388.3	37	c.155C>T	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378286	0.42207	2.27E-4	0.0	ENSG00000158428	ENST00000289388	.	.	.	4.32	4.32	0.51571	.	0.058136	0.64402	D	0.000001	T	0.68650	0.3024	M	0.67953	2.075	0.33075	D	0.535836	D	0.89917	1.0	D	0.91635	0.999	T	0.77571	-0.2538	9	0.87932	D	0	-18.5541	12.4741	0.55803	0.0:1.0:0.0:0.0	.	52	Q7Z7H3	CB062_HUMAN	M	52	.	ENSP00000289388:T52M	T	+	2	0	C2orf62	218930537	0.953000	0.32496	0.900000	0.35374	0.025000	0.11179	2.350000	0.44063	2.398000	0.81561	0.462000	0.41574	ACG		0.577	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			T	219222293	C	T	219222293	3	4	28	1	0	0	0	0	1	0	0	0	2181	536	19	1	165	1	C2orf62	2	219222293	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	164739148	219222293	23977080	10	1802											
DES	1674	broad.mit.edu	37	chr2	220290674	220290674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcttcctccccaggtcGtcagtgaggccacacagcag	7	9	9	16	1	2	1	1	1	1	0	6	1	4	1	4	2	1	1	4	2	0	2	rs73991549	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:220290674G>A	ENST00000373960.3	+	9	1461	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	459	Tail.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.V459I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCCAGGTCGTCAGTGAGGC	0.607													G|||	49	0.00978435	0.0325	0.0072	5008	,	,		19604	0		0.001	False		,,,				2504	0					uc002vll.3																			1	Substitution - Missense(1)	p.V459I(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18	GRCh37	CM070889	DES	M	rs73991549	c.(1375-1377)Gtc>Atc		Homo sapiens desmin (DES), mRNA.		G	ILE/VAL	157,4249	107.3+/-145.7	2,153,2048	173	151	158		1375	4.2	1	2	dbSNP_130	158	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DES	NM_001927.3	29	2,154,6347	AA,AG,GG		0.0116,3.5633,1.2148	benign	459/471	220290674	158,12848	2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220290674G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1375G>A	2.37:g.220290674G>A	ENSP00000363071:p.Val459Ile						p.V459I	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	8	1461	+		Renal(207;0.0183)	459			Tail.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1375G>A	CCDS33383.1	14	0.00641025641025641	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	8.078	0.771762	0.16051	0.035633	1.16E-4	ENSG00000175084	ENST00000373960	D	0.96913	-4.17	5.17	4.23	0.50019	.	0.000000	0.35207	N	0.003373	T	0.77572	0.4150	L	0.41961	1.31	0.39176	D	0.962688	P	0.36587	0.559	B	0.31547	0.132	D	0.86120	0.1568	10	0.06891	T	0.86	.	13.8879	0.63719	0.0:0.1537:0.8463:0.0	.	459	P17661	DESM_HUMAN	I	459	ENSP00000363071:V459I	ENSP00000363071:V459I	V	+	1	0	DES	219998918	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	7.003000	0.76310	2.409000	0.81822	0.655000	0.94253	GTC		0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		A	220290674	G	A	220290674	3	1	28	1	0	0	0	0	1	0	0	0	4449	1145	40	1	1409	1	DES	2	220290674	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	1068381	220290674	22908699	11	1803											
KCNH8	131096	broad.mit.edu	37	chr3	19575121	19575121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcacaactttgtagcAgtaatatcacctcagacatt	14	10	5	12	0	2	1	2	0	0	1	2	1	2	1	2	0	3	4	2	0	5	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:19575121A>T	ENST00000328405.2	+	16	3120	c.2854A>T	c.(2854-2856)Agt>Tgt	p.S952C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	952	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTTGTAGCAGTAATATCAC	0.532																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2854-2856)Agt>Tgt		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							89	85	87					3																	19575121		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575121A>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2854A>T	3.37:g.19575121A>T	ENSP00000328813:p.Ser952Cys					KCNH8_uc010hex.1_Missense_Mutation_p.S413C	p.S952C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	3049	+			952			Ser-rich.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2854A>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.567165	0.28003	.	.	ENSG00000183960	ENST00000328405	D	0.98717	-5.09	5.36	1.26	0.21427	.	0.463335	0.15322	U	0.268493	D	0.94807	0.8323	N	0.14661	0.345	0.19300	N	0.999979	P	0.45569	0.861	P	0.45138	0.471	D	0.90938	0.4795	9	.	.	.	.	5.4438	0.16523	0.4044:0.0:0.4724:0.1232	.	952	Q96L42	KCNH8_HUMAN	C	952	ENSP00000328813:S952C	.	S	+	1	0	KCNH8	19550125	0.080000	0.21391	0.001000	0.08648	0.627000	0.37826	0.264000	0.18497	-0.071000	0.12886	0.533000	0.62120	AGT		0.532	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19575121	A	T	19575121	3	4	28	1	0	0	0	0	1	0	0	0	8038	188	7	5	2916	5	KCNH8	3	19575121	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		19575121	178447309	12	1804											
CCR8	1237	broad.mit.edu	37	chr3	39374303	39374303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcagtatggctaaccGccattatggctaccatccca	9	9	9	14	1	0	0	0	0	0	0	1	0	1	0	5	3	2	4	5	3	4	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:39374303G>A	ENST00000326306.4	+	2	619	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CCR8_ENST00000545843.1_Missense_Mutation_p.A78T|CCR8_ENST00000414803.1_Missense_Mutation_p.R103H	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	161					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGCTAACCGCCATTATGGC	0.488																																						uc010hhr.2																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(481-483)Gcc>Acc		Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.							179	166	171					3																	39374303		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374303G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.481G>A	3.37:g.39374303G>A	ENSP00000326432:p.Ala161Thr					CCR8_uc003cjm.2_Missense_Mutation_p.A78T|CCR8_uc021wwe.1_Missense_Mutation_p.A161T	p.A161T	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	1	619	+			161					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.481G>A	CCDS2684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.492|2.492	-0.317204|-0.317204	0.05386|0.05386	.|.	.|.	ENSG00000179934|ENSG00000179934	ENST00000326306;ENST00000545843|ENST00000414803	T;T|T	0.41758|0.18810	0.99;0.99|2.19	4.76|4.76	2.01|2.01	0.26516|0.26516	GPCR, rhodopsin-like superfamily (1);|.	0.135777|.	0.48286|.	N|.	0.000195|.	T|T	0.38295|0.38295	0.1035|0.1035	M|M	0.86343|0.86343	2.81|2.81	0.19945|0.19945	N|N	0.999945|0.999945	B;B|.	0.16603|.	0.018;0.018|.	B;B|.	0.26864|.	0.027;0.074|.	T|T	0.24621|0.24621	-1.0155|-1.0155	10|7	0.72032|0.87932	D|D	0.01|0	.|.	6.9693|6.9693	0.24640|0.24640	0.1312:0.0:0.7226:0.1462|0.1312:0.0:0.7226:0.1462	.|.	161;78|.	P51685;Q3KNR3|.	CCR8_HUMAN;.|.	T|H	161;78|103	ENSP00000326432:A161T;ENSP00000440474:A78T|ENSP00000390104:R103H	ENSP00000326432:A161T|ENSP00000390104:R103H	A|R	+|+	1|2	0|0	CCR8|CCR8	39349307|39349307	0.210000|0.210000	0.23517|0.23517	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	2.089000|2.089000	0.41672|0.41672	0.240000|0.240000	0.21263|0.21263	-0.152000|-0.152000	0.13540|0.13540	GCC|CGC		0.488	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		A	39374303	G	A	39374303	3	1	28	1	0	0	0	0	1	0	0	0	2947	1087	38	1	483	1	CCR8	3	39374303	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	19799182	39374303	158648127	13	1805											
MST1	63891	broad.mit.edu	37	chr3	49724141	49724144	+	5'Flank	DEL	CTCG	CTCG	-																															gcgggggaggtcacagaactCtcgctcgatctgcggatccg																										TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:49724141_49724144delCTCG	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Frame_Shift_Del_p.RE199fs|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Del_p.RE274fs|MST1_ENST00000545762.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCACAGAACTCTCGCTCGATCTGC	0.662																																						uc003cxg.3																			0		p.R275H(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(820-825)cgagagfs		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.																																				SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724141_49724144delCTCG	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724145_49724148delCTCG	Exception_encountered					MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.R274fs	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	892_895	-			260					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	c.820_823delCGAG	CCDS33758.1																																																																																				0.662	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		-	49724144	CTCG	-	49724141	6	5	28	0	1	1	0	1	0	0	0	0	9890	922	32	0		0	MST1	3	49724141	5'Flank	DEL	CTCG	TCGA-06-0158-01A-01D-1491-08	10349838	49724141	148298289	14	1806											
COL6A6	131873	broad.mit.edu	37	chr3	130284156	130284156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcacggaatggcagtcGgaagaatcagggggtgcccc	10	6	16	9	2	1	1	1	0	0	1	2	3	1	3	2	5	2	2	2	5	4	1	rs182466724		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:130284156G>A	ENST00000358511.6	+	3	1011	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R327Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	327	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGGCAGTCGGAAGAATCAG	0.532													G|||	1	0.000199681	0	0	5008	,	,		18807	0.001		0	False		,,,				2504	0					uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(979-981)cGg>cAg		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							118	121	120					3																	130284156		1911	4122	6033	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284156G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.980G>A	3.37:g.130284156G>A	ENSP00000351310:p.Arg327Gln						p.R327Q	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	1011	+			327			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.980G>A	CCDS46911.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.59	3.856854	0.71834	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.87966	-2.32;-2.32	5.01	4.12	0.48240	von Willebrand factor, type A (3);	0.118006	0.38837	N	0.001548	D	0.95319	0.8481	H	0.95884	3.735	0.40284	D	0.978435	D	0.89917	1.0	D	0.72982	0.979	D	0.96804	0.9591	10	0.66056	D	0.02	.	14.6737	0.68964	0.0:0.0:0.8533:0.1467	.	327	A6NMZ7	CO6A6_HUMAN	Q	327	ENSP00000351310:R327Q;ENSP00000399236:R327Q	ENSP00000351310:R327Q	R	+	2	0	COL6A6	131766846	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	7.338000	0.79269	1.224000	0.43551	-0.314000	0.08810	CGG		0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130284156	G	A	130284156	3	1	28	1	0	0	0	0	1	0	0	0	3703	1116	39	2	990	2	COL6A6	3	130284156	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	80560015	130284156	67738274	15	1807											
AMBN	258	broad.mit.edu	37	chr4	71467259	71467259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccaggccacagcacTgaaagaagcacttcagcctc	14	4	7	16	0	1	2	1	1	0	1	2	2	1	2	4	1	4	2	4	1	3	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:71467259T>A	ENST00000322937.6	+	6	522	c.419T>A	c.(418-420)cTg>cAg	p.L140Q	AMBN_ENST00000449493.2_Missense_Mutation_p.L125Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	140					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCCACAGCACTGAAAGAAGCA	0.557											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hfl.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(418-420)cTg>cAg		Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.							143	137	139					4																	71467259		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467259T>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.419T>A	4.37:g.71467259T>A	ENSP00000313809:p.Leu140Gln		OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130		p.L140Q	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		5	520	+			140					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.419T>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	T	2.049	-0.418158	0.04766	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.27720	1.65;1.65	5.95	3.51	0.40186	.	0.388717	0.25138	N	0.032849	T	0.05135	0.0137	N	0.00067	-2.295	0.22389	N	0.999146	B	0.02656	0.0	B	0.04013	0.001	T	0.33523	-0.9865	10	0.19147	T	0.46	-4.2812	5.389	0.16234	0.7621:0.0:0.0822:0.1557	.	140	Q9NP70	AMBN_HUMAN	Q	140;140;125	ENSP00000313809:L140Q;ENSP00000391234:L125Q	ENSP00000313809:L140Q	L	+	2	0	AMBN	71501848	0.983000	0.35010	0.890000	0.34922	0.004000	0.04260	0.113000	0.15499	0.501000	0.28013	-0.389000	0.06534	CTG		0.557	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		A	71467259	T	A	71467259	3	1	28	1	0	0	0	0	1	0	0	0	563	1580	55	5	441	5	AMBN	4	71467259	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08		71467259	119687017	16	1808											
ADAM29	11086	broad.mit.edu	37	chr4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaatatcacagccctcCggatgtggtgattcctgtga	8	10	9	14	1	1	2	1	2	0	0	3	3	3	3	5	2	1	0	5	2	2	2	rs544557652		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:175896768C>T	ENST00000359240.3	+	5	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_ENST00000404450.4_Missense_Mutation_p.P31L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P31L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P31L|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P31L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.P31L(4)	large_intestine(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(91-93)cCg>cTg		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							82	81	81					4																	175896768		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896768C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.92C>T	4.37:g.175896768C>T	ENSP00000352177:p.Pro31Leu					ADAM29_uc003iud.3_Missense_Mutation_p.P31L|ADAM29_uc010irr.3_Missense_Mutation_p.P31L|ADAM29_uc011cki.2_Missense_Mutation_p.P31L|ADAM29_uc021xuo.1_Missense_Mutation_p.P31L	p.P31L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	762	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	31		P -> L (in a colorectal cancer sample; somatic mutation).			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.92C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630296	0.14257	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;D;T;T	0.81579	4.66;4.66;0.9;-1.51;4.66;4.66	4.36	1.46	0.22682	.	.	.	.	.	D	0.85124	0.5625	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71580	-0.4550	8	.	.	.	.	2.5819	0.04820	0.1935:0.5128:0.1878:0.1059	.	31	Q9UKF5	ADA29_HUMAN	L	31	ENSP00000352177:P31L;ENSP00000414544:P31L;ENSP00000427674:P31L;ENSP00000422537:P31L;ENSP00000384229:P31L;ENSP00000423517:P31L	.	P	+	2	0	ADAM29	176133343	0.003000	0.15002	0.098000	0.21074	0.004000	0.04260	0.096000	0.15147	0.156000	0.19299	0.637000	0.83480	CCG		0.517	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175896768	C	T	175896768	3	4	28	1	0	0	0	0	1	0	0	0	247	652	23	2	94	2	ADAM29	4	175896768	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	104429509	175896768	15257508	17	1809											
ZDHHC11	79844	broad.mit.edu	37	chr5	837585	837585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatactcaaaggtggtcatCttcttggcctctggaaaggg	10	11	12	8	0	5	1	2	0	3	1	5	2	5	2	1	5	1	0	1	5	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:837585C>T	ENST00000283441.8	-	6	1178	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K265K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	265						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGGTGGTCATCTTCTTGGCCT	0.502																																						uc011cma.1																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(793-795)aaG>aaA		Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.							143	160	154					5																	837585		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837585C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.795G>A	5.37:g.837585C>T						ZDHHC11_uc010itd.1_Non-coding_Transcript	p.K265K	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		5	1179	-			265					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.795G>A	CCDS3857.1																																																																																				0.502	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	837585	C	T	837585	2	4	28	1	0	0	0	0	0	0	0	1	17598	912	32	3		3	ZDHHC11	5	837585	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		837585	180077675	18	1810											
EDIL3	10085	broad.mit.edu	37	chr5	83433171	83433171	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcgcattcatttatGtctaagaaaaacagaaagga	17	11	6	7	1	3	2	2	0	1	2	4	3	3	3	0	1	2	1	0	1	6	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:83433171G>A	ENST00000296591.5	-	5	775	c.357C>T	c.(355-357)aaC>aaT	p.N119N	EDIL3_ENST00000380138.3_Splice_Site_p.N109N	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	119	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATTCATTTATGTCTAAGAAAA	0.338																																						uc003kio.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.e5-1		Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.							123	113	116					5																	83433171		2203	4300	6503	SO:0001630	splice_region_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83433171G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.356-1C>T	5.37:g.83433171G>A						EDIL3_uc003kip.1_Splice_Site_p.N109_splice	p.N119_splice	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	5	775	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	119			EGF-like 3.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.356_splice	CCDS4062.1																																																																																				0.338	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	Silent	A	83433171	G	A	83433171	5	1	28	1	0	0	0	0	0	0	1	0	4915	1391	48	3	1113	3	EDIL3	5	83433171	Splice_Site	SNP	G	TCGA-06-0158-01A-01D-1491-08	82595586	83433171	97482089	19	1811											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794507	140794507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccccgctccgcagagcccGgctacctggtgaccaaggtg	6	5	13	17	4	0	2	0	1	0	1	1	2	1	2	6	3	2	3	6	3	2	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:140794507G>A	ENST00000398610.2	+	1	1765	c.1765G>A	c.(1765-1767)Ggc>Agc	p.G589S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	589	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677																																						uc003lkl.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1765-1767)Ggc>Agc		Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.							76	91	86					5																	140794507		2200	4299	6499	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794507G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1765G>A	5.37:g.140794507G>A	ENSP00000381611:p.Gly589Ser					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.G589S|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	p.G589S	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1765	+			586			Cadherin 6.		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1765G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.788871	0.90367	.	.	ENSG00000253846	ENST00000398610	T	0.68025	-0.3	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.87341	0.6153	H	0.94264	3.515	0.47584	D	0.999469	D;D	0.76494	0.996;0.999	D;D	0.74348	0.911;0.983	D	0.90246	0.4290	9	0.72032	D	0.01	.	19.3639	0.94454	0.0:0.0:1.0:0.0	.	589;589	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	589	ENSP00000381611:G589S	ENSP00000381611:G589S	G	+	1	0	PCDHGA10	140774691	1.000000	0.71417	0.431000	0.26735	0.980000	0.70556	6.546000	0.73887	2.673000	0.90976	0.650000	0.86243	GGC		0.677	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		A	140794507	G	A	140794507	3	1	28	1	0	0	0	0	1	0	0	0	11551	1116	39	2	1767	2	PCDHGA10	5	140794507	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	57361336	140794507	40120753	20	1812											
TRIM38	10475	broad.mit.edu	37	chr6	25966964	25966964	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcatatggatagcctcCgacccaacaagcagctggga	12	8	9	12	1	1	0	1	0	0	0	2	3	2	2	3	2	4	2	3	2	4	3	rs557556364		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:25966964C>T	ENST00000357085.3	+	3	690	c.214C>T	c.(214-216)Cga>Tga	p.R72*	TRIM38_ENST00000349458.3_Nonsense_Mutation_p.R72*	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	72					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GGATAGCCTCCGACCCAACAA	0.498													C|||	1	0.000199681	0	0	5008	,	,		18913	0.001		0	False		,,,				2504	0					uc003nfm.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(214-216)Cga>Tga		Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.							52	52	52					6																	25966964		2203	4300	6503	SO:0001587	stop_gained	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25966964C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.214C>T	6.37:g.25966964C>T	ENSP00000349596:p.Arg72*						p.R72*	NM_006355	NP_006346	O00635	TRI38_HUMAN			2	649	+			72					B2R862	Nonsense_Mutation	SNP	ENST00000357085.3	37	c.214C>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	N	33	5.220727	0.95139	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	.	.	.	4.37	0.212	0.15240	.	0.000000	0.38058	N	0.001830	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4852	0.27427	0.4463:0.2787:0.2749:0.0	.	.	.	.	X	72	.	ENSP00000230099:R72X	R	+	1	2	TRIM38	26074943	0.000000	0.05858	0.022000	0.16811	0.002000	0.02628	-1.407000	0.02488	0.018000	0.15052	-0.238000	0.12139	CGA		0.498	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			T	25966964	C	T	25966964	4	4	28	1	0	0	0	0	0	1	0	0	16509	644	23	2	216	2	TRIM38	6	25966964	Nonsense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		25966964	145148103	21	1813											
HLA-F	3134	broad.mit.edu	37	chr6	29694676	29694676	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcctactcagtggtcagCggaaacttgatgataacatg	13	9	10	9	1	2	2	2	2	0	0	2	3	2	3	1	2	5	0	1	2	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:29694676C>T	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Silent_p.S351S|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Silent_p.S222S			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTGGTCAGCGGAAACTTGA	0.493																																						uc003nno.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1051-1053)agC>agT		Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.							108	124	118					6																	29694676		1481	2692	4173	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694676C>T	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694676C>T						HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	p.S351S	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			6	1177	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	ENST00000376861.1	37	c.1053C>T	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	1.465	-0.561381	0.03939	.	.	ENSG00000204642	ENST00000444621	.	.	.	0.62	-1.24	0.09435	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	.	3.1797	0.06581	0.0:0.2495:0.2869:0.4637	.	.	.	.	V	33	.	.	A	+	2	0	HLA-F	29802655	0.934000	0.31675	0.053000	0.19242	0.004000	0.04260	-0.142000	0.10311	-1.635000	0.01535	-1.891000	0.00535	GCG		0.493	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		T	29694676	C	T	29694676	1	4	28	0	1	0	0	0	0	0	0	0	7211	767	27	1		1	HLA-F	6	29694676	IGR	SNP	C	TCGA-06-0158-01A-01D-1491-08	3727712	29694676	141420391	22	1814											
CRISP3	10321	broad.mit.edu	37	chr6	49704218	49704218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagcagtaaaagcgggAtcctaagggaaaataaaatt	21	6	9	5	1	0	0	0	0	0	0	1	2	1	2	1	2	3	2	1	2	9	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:49704218A>G	ENST00000393666.1	-	2	81	c.75T>C	c.(73-75)gaT>gaC	p.D25D	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000433368.2_Silent_p.D48D|CRISP3_ENST00000371159.4_Silent_p.D56D|CRISP3_ENST00000263045.4_Silent_p.D38D			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	25					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAAAAGCGGGATCCTAAGGGA	0.363																																						uc021zai.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(142-144)gaT>gaC		Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.							155	150	152					6																	49704218		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704218A>G	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.75T>C	6.37:g.49704218A>G						CRISP3_uc003ozs.3_Silent_p.D38D	p.D48D	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		2	232	-	Lung NSC(77;0.0161)		25					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.144T>C																																																																																					0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		G	49704218	A	G	49704218	2	3	28	1	0	0	0	0	0	0	0	1	3881	330	12	4		4	CRISP3	6	49704218	Silent	SNP	A	TCGA-06-0158-01A-01D-1491-08	20009542	49704218	121410849	23	1815											
POM121L12	285877	broad.mit.edu	37	chr7	53103391	53103391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctccggccgagtcCgcagacctcgggaacttctg	6	7	13	15	4	1	1	0	0	1	1	4	3	3	2	4	2	3	4	4	2	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:53103391C>T	ENST00000408890.4	+	1	43	c.27C>T	c.(25-27)tcC>tcT	p.S9S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	9										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGCCGAGTCCGCAGACCTCG	0.697																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(25-27)tcC>tcT		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							8	12	11					7																	53103391		1999	4128	6127	SO:0001819	synonymous_variant	285877							g.chr7:53103391C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.27C>T	7.37:g.53103391C>T							p.S9S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	43	+			9					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.27C>T	CCDS43584.1																																																																																				0.697	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103391	C	T	53103391	2	4	28	1	0	0	0	0	0	0	0	1	12241	639	23	2		2	POM121L12	7	53103391	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		53103391	106035272	24	1816											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		6	Substitution - Missense(6)	p.R108K(13)|p.V30_R297>G(5)	central_nervous_system(6)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)aGa>aAa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	119	119					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55211080	G	A	55211080	3	1	28	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	2107689	55211080	103927583	25	1817											
EGFR	1956	broad.mit.edu	37	chr7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T																															cccactgcgtcaagacctgcCcggcaggagtcatgggagaa																										TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233036C>T	ENST00000275493.2	+	15	1963	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_ENST00000442591.1_Missense_Mutation_p.P596S|EGFR_ENST00000455089.1_Missense_Mutation_p.P551S|EGFR_ENST00000454757.2_Missense_Mutation_p.P543S|EGFR_ENST00000342916.3_Missense_Mutation_p.P596S|EGFR_ENST00000344576.2_Missense_Mutation_p.P596S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1786-1788)Ccg>Tcg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92	80	84					7																	55233036		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233036C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1786C>T	7.37:g.55233036C>T	ENSP00000275493:p.Pro596Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2032	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1786C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407764	0.96051	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;P;D;P	0.64410	0.702;0.824;0.925;0.844	T	0.81780	-0.0776	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	551;596;466;596;596;596;543;390	ENSP00000415559:P551S;ENSP00000342376:P596S;ENSP00000345973:P596S;ENSP00000275493:P596S;ENSP00000410031:P596S;ENSP00000395243:P543S	ENSP00000275493:P596S	P	+	1	0	EGFR	55200530	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233036	C	T	55233036	3	4	28	1	0	0	0	0	1	0	0	0	4967	623	22	3	1855	3	EGFR	7	55233036	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	21956	55233036	103905627	26	1818	1	2									
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C																															cgtcaagacctgcccggcagGagtcatgggagaaaacaaca																								rs139236063		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233043G>C	ENST00000275493.2	+	15	1970	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_ENST00000442591.1_Missense_Mutation_p.G598A|EGFR_ENST00000455089.1_Missense_Mutation_p.G553A|EGFR_ENST00000454757.2_Missense_Mutation_p.G545A|EGFR_ENST00000342916.3_Missense_Mutation_p.G598A|EGFR_ENST00000344576.2_Missense_Mutation_p.G598A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gCa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>C	7.37:g.55233043G>C	ENSP00000275493:p.Gly598Ala	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598A	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727885	0.89390	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.996;1.0	P;D;D;D	0.79108	0.557;0.952;0.95;0.992	T	0.74748	-0.3560	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	A	553;598;468;598;598;598;545;392	ENSP00000415559:G553A;ENSP00000342376:G598A;ENSP00000345973:G598A;ENSP00000275493:G598A;ENSP00000410031:G598A;ENSP00000395243:G545A	ENSP00000275493:G598A	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55233043	G	C	55233043	3	2	28	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	7	55233043	103905620	27	1819	1	2									
PCLO	27445	broad.mit.edu	37	chr7	82764904	82764904	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgggctggggtgatgaCggaactggagccagatcccc	8	8	16	9	1	0	3	0	2	0	1	1	5	1	5	3	5	2	2	3	5	1	1	rs377565205		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:82764904C>T	ENST00000333891.9	-	3	2299	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	PCLO_ENST00000423517.2_Silent_p.P654P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P654P(2)|p.P600P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGTGATGACGGAACTGGAG	0.478																																						uc003uhx.2																			3	Substitution - coding silent(3)	p.P654P(3)|p.P600P(1)	endometrium(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1960-1962)ccG>ccA		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.		C	,	1,3991		0,1,1995	82	82	82		1962,1962	-9	0.3	7		82	0,8322		0,0,4161	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,1,6156	TT,TC,CC		0.0,0.0251,0.0081	,	654/4936,654/5143	82764904	1,12313	1996	4161	6157	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764904C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1962G>A	7.37:g.82764904C>T						PCLO_uc003uhv.2_Silent_p.P654P	p.P654P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	2251	-			600			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.1962G>A	CCDS47630.1																																																																																				0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82764904	C	T	82764904	2	4	28	1	0	0	0	0	0	0	0	1	11583	523	19	1		1	PCLO	7	82764904	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	27531861	82764904	76373759	28	1820											
NPTX2	4885	broad.mit.edu	37	chr7	98254472	98254472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcgagctgctcatcaaCgacaaggtgaggcccgcctg	9	6	11	15	3	2	1	2	1	0	0	3	3	2	1	3	2	3	2	3	2	2	0	rs149672697		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:98254472C>T	ENST00000265634.3	+	3	1047	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	294	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.N294N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCATCAACGACAAGGTGA	0.667																																						uc003upl.2																			1	Substitution - coding silent(1)	p.N294N(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(880-882)aaC>aaT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		C		0,4406		0,0,2203	58	48	51		882	-9.3	0.6	7	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NPTX2	NM_002523.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		294/432	98254472	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254472C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.882C>T	7.37:g.98254472C>T							p.N294N	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	1059	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		294			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.882C>T	CCDS5657.1																																																																																				0.667	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98254472	C	T	98254472	2	4	28	1	0	0	0	0	0	0	0	1	10603	535	19	1		1	NPTX2	7	98254472	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	15489568	98254472	60884191	29	1821											
LAMB1	3912	broad.mit.edu	37	chr7	107600136	107600136	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcttttgaggaacctacGtttgcatccactggggccaa	10	11	10	10	1	0	1	0	1	0	0	1	2	1	2	3	3	4	3	3	3	4	4	rs140619520		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:107600136G>A	ENST00000222399.6	-	19	2688	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	LAMB1_ENST00000393561.1_Splice_Site_p.P844S|LAMB1_ENST00000393560.1_Missense_Mutation_p.R820C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	820	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.P820S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGAACCTACGTTTGCATCCA	0.527																																						uc003vev.2																			1	Substitution - Missense(1)	p.P820S(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.e17+1		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	SER/PRO	0,4406		0,0,2203	64	62	63		2458	0.1	1	7	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	LAMB1	NM_002291.2	74	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	820/1787	107600136	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600136G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2458+1C>T	7.37:g.107600136G>A						LAMB1_uc003vew.2_Splice_Site_p.P820_splice|LAMB1_uc003vex.3_Missense_Mutation_p.R820C	p.P844_splice	NM_002291	NP_002282	P07942	LAMB1_HUMAN			17	2691	-			820			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2530_splice	CCDS5750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.628|8.628	0.893092|0.893092	0.17613|0.17613	0.0|0.0	2.33E-4|2.33E-4	ENSG00000091136|ENSG00000091136	ENST00000393561;ENST00000222399|ENST00000393560	T;T|T	0.55413|0.39997	0.52;0.52|1.05	5.13|5.13	0.14|0.14	0.14804|0.14804	EGF-like, laminin (2);|.	.|.	.|.	.|.	.|.	T|T	0.31670|0.31670	0.0804|0.0804	L|L	0.48260|0.48260	1.515|1.515	0.33301|0.33301	D|D	0.56488|0.56488	P;P|B	0.45044|0.09022	0.812;0.849|0.002	B;B|B	0.33750|0.04013	0.103;0.169|0.001	T|T	0.24048|0.24048	-1.0171|-1.0171	9|9	0.18710|0.44086	T|T	0.47|0.13	.|.	6.5584|6.5584	0.22474|0.22474	0.2551:0.2162:0.5287:0.0|0.2551:0.2162:0.5287:0.0	.|.	820;844|820	P07942;G3XAI2|E7EPA6	LAMB1_HUMAN;.|.	S|C	844;820|820	ENSP00000377191:P844S;ENSP00000222399:P820S|ENSP00000377190:R820C	ENSP00000222399:P820S|ENSP00000377190:R820C	P|R	-|-	1|1	0|0	LAMB1|LAMB1	107387372|107387372	0.950000|0.950000	0.32346|0.32346	0.980000|0.980000	0.43619|0.43619	0.330000|0.330000	0.28571|0.28571	0.007000|0.007000	0.13174|0.13174	-0.147000|-0.147000	0.11254|0.11254	-0.217000|-0.217000	0.12591|0.12591	CCT|CGT		0.527	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Missense_Mutation	A	107600136	G	A	107600136	5	1	28	1	0	0	0	0	0	0	1	0	8610	1159	40	1	2966	1	LAMB1	7	107600136	Splice_Site	SNP	G	TCGA-06-0158-01A-01D-1491-08	9345664	107600136	51538527	30	1822											
ASB15	142685	broad.mit.edu	37	chr7	123276864	123276864	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcccgatttcttttagaGaatccttgttcattgaagca	9	18	6	8	1	2	2	1	1	1	1	4	4	4	2	2	0	1	2	2	0	3	8			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:123276864G>A	ENST00000451558.1	+	14	2117	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E	ASB15_ENST00000434204.1_Splice_Site_p.E532E|ASB15_ENST00000540573.1_Splice_Site_p.E532E|ASB15_ENST00000451215.1_Splice_Site_p.E532E|ASB15_ENST00000275699.3_Splice_Site_p.E532E			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	532	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCTTTTAGAGAATCCTTGTT	0.383																																						uc003vku.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.e12-1		Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.							55	64	61					7																	123276864		2203	4299	6502	SO:0001630	splice_region_variant	142685				intracellular signal transduction			g.chr7:123276864G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1595-1G>A	7.37:g.123276864G>A						ASB15_uc003vkw.1_Splice_Site_p.E532_splice	p.E532_splice	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			12	1887	+			532			SOCS box.		Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.1595_splice	CCDS34742.1																																																																																				0.383	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		Silent	A	123276864	G	A	123276864	5	1	28	1	0	0	0	0	0	0	1	0	1019	956	33	3	1630	3	ASB15	7	123276864	Splice_Site	SNP	G	TCGA-06-0158-01A-01D-1491-08	15676728	123276864	35861799	31	1823											
NUP205	23165	broad.mit.edu	37	chr7	135300745	135300745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtaacctctctgaatcGtcagcggtcacatacccaga	12	8	9	12	2	3	2	2	1	1	1	5	2	3	2	2	2	3	1	2	2	4	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:135300745G>A	ENST00000285968.6	+	24	3418	c.3392G>A	c.(3391-3393)cGt>cAt	p.R1131H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1131					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTCTGAATCGTCAGCGGTCA	0.403																																						uc003vsw.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3391-3393)cGt>cAt		Homo sapiens nucleoporin 205kDa (NUP205), mRNA.							143	129	134					7																	135300745		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135300745G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3392G>A	7.37:g.135300745G>A	ENSP00000285968:p.Arg1131His						p.R1131H	NM_015135	NP_055950	Q92621	NU205_HUMAN			23	3423	+			1131					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3392G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690300	0.96793	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.32851	-0.9891	10	0.37606	T	0.19	-6.877	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1131	Q92621	NU205_HUMAN	H	1131	ENSP00000285968:R1131H	ENSP00000285968:R1131H	R	+	2	0	NUP205	134951285	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.410000	0.97335	2.937000	0.99478	0.650000	0.86243	CGT		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			A	135300745	G	A	135300745	3	1	28	1	0	0	0	0	1	0	0	0	10759	1145	40	1	3486	1	NUP205	7	135300745	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	12023881	135300745	23837918	32	1824											
TRPA1	8989	broad.mit.edu	37	chr8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaaaatgatgcccgtcGtgtagataatccattcaaga	15	9	8	9	2	1	3	1	1	0	2	3	3	2	3	2	0	1	2	2	0	5	3	rs538354055		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr8:72948640G>A	ENST00000262209.4	-	21	2645	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363													G|||	1	0.000199681	0	0	5008	,	,		18138	0		0.001	False		,,,				2504	0					uc003xza.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2437-2439)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						60	60	60					8																	72948640		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948640G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2438C>T	8.37:g.72948640G>A	ENSP00000262209:p.Thr813Met					LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.T813M	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		20	2613	-			813					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2438C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056535	0.19907	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.32753	1.44;1.44	4.83	3.96	0.45880	Ion transport (1);	0.257775	0.38381	N	0.001705	T	0.49660	0.1570	M	0.73598	2.24	0.32639	N	0.520996	D	0.89917	1.0	D	0.72982	0.979	T	0.61322	-0.7086	10	0.59425	D	0.04	-10.7696	6.7065	0.23254	0.1594:0.1466:0.694:0.0	.	813	O75762	TRPA1_HUMAN	M	665;813	ENSP00000428151:T665M;ENSP00000262209:T813M	ENSP00000262209:T813M	T	-	2	0	TRPA1	73111194	0.996000	0.38824	0.891000	0.34965	0.085000	0.17905	2.223000	0.42936	1.023000	0.39654	0.460000	0.39030	ACG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		A	72948640	G	A	72948640	3	1	28	1	0	0	0	0	1	0	0	0	16574	1145	40	1	949	1	TRPA1	8	72948640	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		72948640	73415382	33	1825											
SPTAN1	6709	broad.mit.edu	37	chr9	131395212	131395212	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagggaaagccttacgTgaccaaggaggagctctacc	12	6	12	11	1	2	2	1	1	1	1	2	5	2	5	3	3	4	1	3	3	4	2	rs148173166		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:131395212T>A	ENST00000372731.4	+	55	7381	c.7271T>A	c.(7270-7272)gTg>gAg	p.V2424E	SPTAN1_ENST00000358161.5_Missense_Mutation_p.V2429E|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V2429E|WDR34_ENST00000483181.1_5'Flank	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2424	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGCCTTACGTGACCAAGGAG	0.547																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(7270-7272)gTg>gAg		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.							86	92	90					9																	131395212		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131395212T>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7271T>A	9.37:g.131395212T>A	ENSP00000361816:p.Val2424Glu					SPTAN1_uc004bvm.4_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.4_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.4_Missense_Mutation_p.V191E	p.V2424E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			54	7413	+			2424			EF-hand 3.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.7271T>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	33	5.237549	0.95240	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.61158	0.13;0.13;0.13	5.69	5.69	0.88448	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.133431	0.50627	D	0.000111	T	0.72374	0.3452	M	0.86178	2.8	0.80722	D	1	D;D;B	0.58620	0.983;0.983;0.01	P;P;B	0.52267	0.694;0.694;0.027	T	0.78643	-0.2124	10	0.87932	D	0	.	15.9404	0.79750	0.0:0.0:0.0:1.0	.	2404;2429;2424	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	E	2429;2424;2429;2404	ENSP00000350882:V2429E;ENSP00000361816:V2424E;ENSP00000361824:V2429E	ENSP00000350882:V2429E	V	+	2	0	SPTAN1	130435033	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.497000	0.81536	2.171000	0.68590	0.459000	0.35465	GTG		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		A	131395212	T	A	131395212	3	1	28	1	0	0	0	0	1	0	0	0	15116	1696	59	5	7504	5	SPTAN1	9	131395212	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08		131395212	9818219	34	1826											
C9orf171	389799	broad.mit.edu	37	chr9	135374872	135374872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccggcctggtgactgcccggGagaacttgctctaccgtcag	6	8	13	14	3	2	2	1	1	1	1	2	3	2	2	4	3	4	1	4	3	2	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:135374872G>C	ENST00000343036.2	+	4	565	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	C9orf171_ENST00000393216.2_Missense_Mutation_p.E137Q|C9orf171_ENST00000393215.3_Missense_Mutation_p.E137Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTGCCCGGGAGAACTTGCT	0.592																																						uc004cbn.3																			0		p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						c.(517-519)Gag>Cag		Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.							86	86	86					9																	135374872		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135374872G>C	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.517G>C	9.37:g.135374872G>C	ENSP00000343290:p.Glu173Gln					C9orf171_uc004cbo.3_Missense_Mutation_p.E137Q	p.E173Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			3	565	+			173					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.517G>C	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675064	0.67928	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.29655	1.56;1.56;1.56	5.26	5.26	0.73747	.	0.127315	0.49916	D	0.000126	T	0.44891	0.1315	L	0.46157	1.445	0.35463	D	0.796658	D;D	0.71674	0.998;0.992	P;P	0.59424	0.799;0.857	T	0.53975	-0.8362	10	0.54805	T	0.06	.	15.4305	0.75092	0.0:0.139:0.861:0.0	.	137;173	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	Q	137;173;137	ENSP00000376908:E137Q;ENSP00000343290:E173Q;ENSP00000376909:E137Q	ENSP00000343290:E173Q	E	+	1	0	C9orf171	134364693	1.000000	0.71417	0.995000	0.50966	0.760000	0.43138	4.895000	0.63214	2.618000	0.88619	0.561000	0.74099	GAG		0.592	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		C	135374872	G	C	135374872	3	2	28	1	0	0	0	0	1	0	0	0	2470	1175	41	5	531	5	C9orf171	9	135374872	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	3979660	135374872	5838559	35	1827											
ANO5	203859	broad.mit.edu	37	chr11	22291884	22291884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaattggtggagacgccGaaaagctcggacaaactctg	12	9	12	8	3	1	2	0	1	1	1	2	5	1	3	1	3	2	1	1	3	4	2	rs199532484		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:22291884G>A	ENST00000324559.8	+	18	2242	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	642					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGACGCCGAAAAGCTCGG	0.413													G|||	1	0.000199681	0	0.0014	5008	,	,		18223	0		0	False		,,,				2504	0					uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1924-1926)cGa>cAa		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							111	111	111					11																	22291884		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22291884G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1925G>A	11.37:g.22291884G>A	ENSP00000315371:p.Arg642Gln					ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	p.R642Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			17	2242	+			642						Missense_Mutation	SNP	ENST00000324559.8	37	c.1925G>A	CCDS31444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.668894	0.96754	.	.	ENSG00000171714	ENST00000324559	T	0.63744	-0.06	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.82923	2.615	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.78957	-0.1999	10	0.37606	T	0.19	.	19.8505	0.96738	0.0:0.0:1.0:0.0	.	642	Q75V66	ANO5_HUMAN	Q	642	ENSP00000315371:R642Q	ENSP00000315371:R642Q	R	+	2	0	ANO5	22248460	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.770000	0.85390	2.688000	0.91661	0.655000	0.94253	CGA		0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22291884	G	A	22291884	3	1	28	1	0	0	0	0	1	0	0	0	700	1058	37	2	1995	2	ANO5	11	22291884	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		22291884	112714632	36	1828											
GDPD4	220032	broad.mit.edu	37	chr11	76956338	76956338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacttaccagatgttgctcGattttagaggcaaggatcac	12	11	10	8	1	1	3	1	0	0	3	2	5	1	4	1	2	2	3	1	2	3	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:76956338G>A	ENST00000376217.2	-	11	1324	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	GDPD4_ENST00000315938.4_Silent_p.I358I			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	358	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATGTTGCTCGATTTTAGAGG	0.438																																						uc001oyf.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(1072-1074)atC>atT		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.							185	164	171					11																	76956338		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76956338G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1074C>T	11.37:g.76956338G>A							p.I358I	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			10	1325	-			358			GDPD.		Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.1074C>T																																																																																					0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		A	76956338	G	A	76956338	2	1	28	1	0	0	0	0	0	0	0	1	6326	1048	37	2		2	GDPD4	11	76956338	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	54664454	76956338	58050178	37	1829											
GRM5	2915	broad.mit.edu	37	chr11	88338071	88338071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccataggccatcgaatagatGgcgttgatcacaaatcccat	13	9	8	11	2	1	2	1	1	0	1	3	3	2	2	3	2	0	1	3	2	4	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:88338071G>A	ENST00000305447.4	-	4	1358	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	GRM5_ENST00000305432.5_Silent_p.A403A|GRM5_ENST00000418177.2_Silent_p.A403A|GRM5_ENST00000455756.2_Silent_p.A403A|GRM5_ENST00000393297.1_Silent_p.A403A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	403					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCGAATAGATGGCGTTGATCA	0.458																																						uc001pcq.3																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1207-1209)gcC>gcT		Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	Acamprosate(DB00659)						101	86	91					11																	88338071		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88338071G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1209C>T	11.37:g.88338071G>A						GRM5_uc009yvm.3_Silent_p.A403A	p.A403A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1409	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	403					Q6J164	Silent	SNP	ENST00000305447.4	37	c.1209C>T	CCDS44694.1																																																																																				0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		A	88338071	G	A	88338071	2	1	28	1	0	0	0	0	0	0	0	1	6800	1335	47	3		3	GRM5	11	88338071	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	11381733	88338071	46668445	38	1830											
NAALAD2	10003	broad.mit.edu	37	chr11	89902152	89902152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatatcaactcggattcatCtatagaaggtaaattttatt	14	17	5	5	1	3	1	2	0	1	1	4	2	3	2	0	2	1	1	0	2	9	9			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:89902152C>G	ENST00000534061.1	+	12	1564	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C	NAALAD2_ENST00000321955.4_Missense_Mutation_p.S412C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	445	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCGGATTCATCTATAGAAGGT	0.294																																						uc001pdf.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1333-1335)tCt>tGt		Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.							51	55	53					11																	89902152		2201	4293	6494	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89902152C>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1334C>G	11.37:g.89902152C>G	ENSP00000432481:p.Ser445Cys					NAALAD2_uc009yvx.3_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.3_Intron	p.S445C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			11	1443	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	445			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1334C>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998961	0.74818	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.49720	0.77;0.77	5.75	4.83	0.62350	Peptidase M28 (1);	0.418299	0.25161	N	0.032669	T	0.65873	0.2733	M	0.70595	2.14	0.80722	D	1	D	0.59357	0.985	P	0.61874	0.895	T	0.67488	-0.5658	9	.	.	.	-10.8484	16.8247	0.85927	0.0:0.8713:0.1287:0.0	.	445	Q9Y3Q0	NALD2_HUMAN	C	445;412	ENSP00000432481:S445C;ENSP00000320083:S412C	.	S	+	2	0	NAALAD2	89541800	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	5.092000	0.64511	1.427000	0.47276	0.650000	0.86243	TCT		0.294	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		G	89902152	C	G	89902152	3	3	28	1	0	0	0	0	1	0	0	0	10128	913	32	5	1380	5	NAALAD2	11	89902152	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	1564081	89902152	45104364	39	1831											
APOF	319	broad.mit.edu	37	chr12	56755752	56755752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagaacttgggtagaggggCcatgtggctgaaaccaggca	12	6	15	8	0	0	3	0	1	0	2	0	3	0	3	2	5	2	3	2	5	4	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:56755752C>G	ENST00000398189.3	-	2	315	c.238G>C	c.(238-240)Gcc>Ccc	p.A80P	APOF_ENST00000541105.1_Missense_Mutation_p.A62P|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	80					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGTAGAGGGGCCATGTGGCTG	0.547																																						uc001sle.1																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(238-240)Gcc>Ccc		Homo sapiens apolipoprotein F (APOF), mRNA.							70	73	72					12																	56755752		2043	4189	6232	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755752C>G	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.238G>C	12.37:g.56755752C>G	ENSP00000381250:p.Ala80Pro						p.A80P	NM_001638	NP_001629	Q13790	APOF_HUMAN			1	292	-			80					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.238G>C	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158033	0.38119	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.58652	0.32;0.32	4.76	2.89	0.33648	.	0.429687	0.17340	N	0.177776	T	0.37461	0.1004	N	0.20401	0.57	0.24328	N	0.995018	B	0.32800	0.385	B	0.33295	0.161	T	0.15896	-1.0421	10	0.32370	T	0.25	-8.8255	6.2269	0.20714	0.0:0.6993:0.1984:0.1022	.	80	Q13790	APOF_HUMAN	P	80;62	ENSP00000381250:A80P;ENSP00000440997:A62P	ENSP00000381250:A80P	A	-	1	0	APOF	55042019	0.750000	0.28316	0.998000	0.56505	0.996000	0.88848	0.182000	0.16900	0.707000	0.31934	0.650000	0.86243	GCC		0.547	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			G	56755752	C	G	56755752	3	3	28	1	0	0	0	0	1	0	0	0	803	739	26	5	746	5	APOF	12	56755752	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		56755752	77096143	40	1832											
MDM1	56890	broad.mit.edu	37	chr12	68716856	68716856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taaaagttgatgaataccttCctttcaggagacactgtttc	12	14	7	8	0	1	3	1	2	0	1	3	4	2	3	2	1	1	2	2	1	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:68716856C>T	ENST00000303145.7	-	5	884	c.798G>A	c.(796-798)agG>agA	p.R266R	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank|MDM1_ENST00000411698.2_Silent_p.R221R	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	266					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAATACCTTCCTTTCAGGAG	0.328																																						uc001stz.2																			0		p.R266G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(796-798)agG>agA		Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.							140	135	137					12																	68716856		2202	4300	6502	SO:0001819	synonymous_variant	56890					nucleus		g.chr12:68716856C>T	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.798G>A	12.37:g.68716856C>T						MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.R221R	p.R266R	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	934	-			266					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	c.798G>A	CCDS8983.1																																																																																				0.328	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		T	68716856	C	T	68716856	2	4	28	1	0	0	0	0	0	0	0	1	9412	854	30	3		3	MDM1	12	68716856	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	11961104	68716856	65135039	41	1833											
RALGAPA1	253959	broad.mit.edu	37	chr14	36211763	36211763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcttcacaaattggtaaTaaaaatgcctagggaaaaaa	18	9	8	6	0	1	0	1	0	0	0	1	1	1	1	1	2	2	3	1	2	9	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr14:36211763T>C	ENST00000389698.3	-	11	1650	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	RALGAPA1_ENST00000382366.3_Silent_p.L420L|RALGAPA1_ENST00000307138.6_Silent_p.L420L|RALGAPA1_ENST00000258840.6_Silent_p.L420L|RALGAPA1_ENST00000554704.1_5'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	420					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATTGGTAATAAAAATGCCT	0.353																																						uc001wtj.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1258-1260)ttA>ttG		Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.							45	46	45					14																	36211763		2200	4299	6499	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36211763T>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1260A>G	14.37:g.36211763T>C						RALGAPA1_uc001wti.3_Silent_p.L420L|RALGAPA1_uc010tpv.2_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	p.L420L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN			10	1651	-			420					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.1260A>G	CCDS32065.1																																																																																				0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36211763	T	C	36211763	2	2	28	1	0	0	0	0	0	0	0	1	13013	1403	49	4		4	RALGAPA1	14	36211763	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08		36211763	71137777	42	1834											
RFX7	64864	broad.mit.edu	37	chr15	56435018	56435018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggcagtgaagtctccGgatgttcctctagggtattc	6	14	13	8	1	2	1	0	1	2	0	5	2	3	2	2	3	0	4	2	3	3	5	rs547205397		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr15:56435018G>A	ENST00000559447.2	-	4	339	c.68C>T	c.(67-69)cCg>cTg	p.P23L	RFX7_ENST00000422057.1_Missense_Mutation_p.P23L|RFX7_ENST00000317318.6_Missense_Mutation_p.P120L|RFX7_ENST00000423270.1_Missense_Mutation_p.P120L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	23					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGTCTCCGGATGTTCCTC	0.388													G|||	1	0.000199681	0	0.0014	5008	,	,		21269	0		0	False		,,,				2504	0					uc010bfn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(358-360)cCg>cTg		Homo sapiens regulatory factor X, 7 (RFX7), mRNA.							85	80	82					15																	56435018		1888	4126	6014	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56435018G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.68C>T	15.37:g.56435018G>A	ENSP00000453281:p.Pro23Leu						p.P120L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			3	359	-			23					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.359C>T		.	.	.	.	.	.	.	.	.	.	G	28.7	4.944522	0.92593	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.83506	-1.73;-1.73;-1.73	6.02	6.02	0.97574	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.88548	0.6466	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.88773	0.3265	10	0.87932	D	0	-10.1337	18.0409	0.89318	0.0:0.0:1.0:0.0	.	23	Q2KHR2	RFX7_HUMAN	L	23;120;120	ENSP00000387504:P23L;ENSP00000313299:P120L;ENSP00000397644:P120L	ENSP00000313299:P120L	P	-	2	0	RFX7	54222310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.011000	0.93618	2.850000	0.98022	0.650000	0.86243	CCG		0.388	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		A	56435018	G	A	56435018	3	1	28	1	0	0	0	0	1	0	0	0	13268	1116	39	2	4047	2	RFX7	15	56435018	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		56435018	46096374	43	1835											
WDR90	197335	broad.mit.edu	37	chr16	703568	703568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagctcactattggcctCggcccaggcaagggccccta	8	6	11	16	1	1	0	1	0	0	0	2	0	1	0	4	4	2	3	4	4	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:703568C>T	ENST00000293879.4	+	12	1277	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	WDR90_ENST00000549091.1_Missense_Mutation_p.S426L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	426										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTATTGGCCTCGGCCCAGGCA	0.657																																						uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1276-1278)tCg>tTg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.							66	74	71					16																	703568		2016	4171	6187	SO:0001583	missense	197335							g.chr16:703568C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1277C>T	16.37:g.703568C>T	ENSP00000293879:p.Ser426Leu					WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	p.S426L	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			11	1331	+		Hepatocellular(780;0.0218)	426					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1277C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885675	0.72410	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01484	4.84;4.84	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.56097	U	0.000030	T	0.18215	0.0437	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.22661	-1.0210	10	0.87932	D	0	.	16.7135	0.85392	0.0:1.0:0.0:0.0	.	426;427;426	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	L	426	ENSP00000448122:S426L;ENSP00000293879:S426L	ENSP00000293879:S426L	S	+	2	0	WDR90	643569	1.000000	0.71417	0.963000	0.40424	0.019000	0.09904	7.346000	0.79347	2.180000	0.69256	0.561000	0.74099	TCG		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	703568	C	T	703568	3	4	28	1	0	0	0	0	1	0	0	0	17334	893	31	2	1323	2	WDR90	16	703568	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		703568	89651185	44	1836											
TIMM16	51025	broad.mit.edu	37	chr16	4391505	4391505	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcagctgcggcccggctgGctgtgtggacatgtgggtga	5	9	17	10	2	1	1	1	1	0	0	1	2	1	2	1	5	2	3	1	5	0	0			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:4391505G>C	ENST00000318059.3	-	3	226	c.89C>G	c.(88-90)gCc>gGc	p.A30G	PAM16_ENST00000576217.1_Splice_Site_p.A30G|CORO7-PAM16_ENST00000572467.1_Splice_Site_p.A953G|PAM16_ENST00000575848.1_Splice_Site_p.A42G|PAM16_ENST00000573553.1_Splice_Site_p.A50G|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000577031.1_Splice_Site_p.A30G|PAM16_ENST00000571941.1_Splice_Site_p.A50G	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	30					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						GGCCCGGCTGGCTGTGTGGAC	0.657																																						uc002cwf.3																			0											c.e29-1		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							27	24	25					16																	4391505		2188	4289	6477	SO:0001630	splice_region_variant	79585							g.chr16:4391505G>C	AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.89-1C>G	16.37:g.4391505G>C						CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwd.3_Splice_Site_p.A30_splice	p.A953_splice	NM_001201479	NP_001188408					29	3301	-								Q6I9Z3|Q9H5X3	Missense_Mutation	SNP	ENST00000318059.3	37	c.2858_splice	CCDS10512.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585927	0.96578	.	.	ENSG00000217930	ENST00000318059	T	0.54071	0.59	6.11	6.11	0.99139	.	.	.	.	.	T	0.78207	0.4247	M	0.92604	3.325	0.46396	D	0.999024	D	0.54397	0.966	P	0.62089	0.898	T	0.76892	-0.2791	9	0.28530	T	0.3	.	20.3293	0.98710	0.0:0.0:1.0:0.0	.	30	Q9Y3D7	TIM16_HUMAN	G	30	ENSP00000315693:A30G	ENSP00000315693:A30G	A	-	2	0	PAM16	4331506	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.269000	0.95684	2.906000	0.99361	0.655000	0.94253	GCC		0.657	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2	NM_016069	Missense_Mutation	C	4391505	G	C	4391505	5	2	28	1	0	0	0	0	0	0	1	0	15904	1217	42	5	300	5	TIMM16	16	4391505	Splice_Site	SNP	G	TCGA-06-0158-01A-01D-1491-08	3687937	4391505	85963248	45	1837											
SLC25A11	8402	broad.mit.edu	37	chr17	4842250	4842250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtgtaggtggcctgaCgcagcaggccagccgacagc	8	6	16	11	2	0	1	0	1	0	0	0	2	0	1	3	4	3	3	3	4	2	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:4842250C>T	ENST00000225665.7	-	3	609	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R39H|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	90					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GGTGGCCTGACGCAGCAGGCC	0.612																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(268-270)cGt>cAt		Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							53	54	54					17																	4842250		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4842250C>T	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.269G>A	17.37:g.4842250C>T	ENSP00000225665:p.Arg90His					SLC25A11_uc002fzp.2_Missense_Mutation_p.R86H|SLC25A11_uc021tod.1_Missense_Mutation_p.R79H|SLC25A11_uc021toe.1_Missense_Mutation_p.R39H|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	p.R90H	NM_003562	NP_003553	Q02978	M2OM_HUMAN			2	526	-			90					F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.269G>A	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362023	0.95877	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;T	0.81659	-1.52;-1.34	5.97	5.97	0.96955	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94725	0.7904	10	0.87932	D	0	-1.1849	17.9218	0.88969	0.0:1.0:0.0:0.0	.	90;90	Q6IBH0;Q02978	.;M2OM_HUMAN	H	90;39	ENSP00000225665:R90H;ENSP00000440804:R39H	ENSP00000225665:R90H	R	-	2	0	SLC25A11	4782995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.937000	0.75898	2.837000	0.97791	0.655000	0.94253	CGT		0.612	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		T	4842250	C	T	4842250	3	4	28	1	0	0	0	0	1	0	0	0	14473	536	19	1	699	1	SLC25A11	17	4842250	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		4842250	76352960	46	1838											
TMEM102	284114	broad.mit.edu	37	chr17	7340213	7340213	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaccaccgtcctcctggcTacccctgagccccctcgccg	4	8	7	22	3	1	1	1	1	0	0	4	1	3	1	9	1	2	1	9	1	1	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:7340213T>A	ENST00000323206.1	+	3	1188	c.915T>A	c.(913-915)gcT>gcA	p.A305A	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|TMEM102_ENST00000396568.1_Silent_p.A305A	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	305					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCTCCTGGCTACCCCTGAGC	0.721																																						uc002ggx.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(913-915)gcT>gcA		Homo sapiens transmembrane protein 102 (TMEM102), mRNA.							29	31	30					17																	7340213		2202	4299	6501	SO:0001819	synonymous_variant	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340213T>A	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.915T>A	17.37:g.7340213T>A						SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	p.A305A	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN			2	1188	+		Prostate(122;0.173)	305					D3DTP8	Silent	SNP	ENST00000323206.1	37	c.915T>A	CCDS11104.1																																																																																				0.721	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		A	7340213	T	A	7340213	2	1	28	1	0	0	0	0	0	0	0	1	16014	1509	53	5		5	TMEM102	17	7340213	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08	2497963	7340213	73854997	47	1839											
KRBA2	124751	broad.mit.edu	37	chr17	8274702	8274702	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagccttctaaataatTccaatctttggtcatatttt	11	18	5	7	0	3	1	1	1	2	1	4	2	4	1	2	1	1	0	2	1	5	9			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:8274702T>G	ENST00000331336.2	-	1	156	c.151A>C	c.(151-153)Aat>Cat	p.N51H	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	51	KRAB.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCTAAATAATTCCAATCTTTG	0.453																																						uc002glf.1																			0		p.N51K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(151-153)Aat>Cat		Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.							125	128	127					17																	8274702		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8274702T>G	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.151A>C	17.37:g.8274702T>G	ENSP00000328017:p.Asn51His					KRBA2_uc002glg.1_Intron	p.N51H	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			0	157	-			51			KRAB.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.151A>C	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	T	6.491	0.458705	0.12342	.	.	ENSG00000184619	ENST00000331336	T	0.01647	4.71	2.26	-1.68	0.08212	Krueppel-associated box (3);	.	.	.	.	T	0.00695	0.0023	N	0.04508	-0.205	0.09310	N	1	P	0.37573	0.6	B	0.37267	0.245	T	0.33007	-0.9885	9	0.02654	T	1	.	0.2518	0.00206	0.2294:0.1525:0.2345:0.3836	.	51	Q6ZNG9	KRBA2_HUMAN	H	51	ENSP00000328017:N51H	ENSP00000328017:N51H	N	-	1	0	KRBA2	8215427	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.222000	0.09190	-0.462000	0.06984	-0.488000	0.04728	AAT		0.453	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		G	8274702	T	G	8274702	3	3	28	1	0	0	0	0	1	0	0	0	8440	1783	62	5	1335	5	KRBA2	17	8274702	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	934489	8274702	72920508	48	1840											
UNC45B	146862	broad.mit.edu	37	chr17	33497185	33497185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgacgctgggcagtggagGgcctggcctacctcacgctg	5	6	15	15	3	1	0	1	0	0	0	1	2	1	1	4	4	1	3	4	4	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:33497185G>A	ENST00000268876.5	+	12	1697	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	UNC45B_ENST00000394570.2_Missense_Mutation_p.G534S|UNC45B_ENST00000433649.1_Missense_Mutation_p.G534S|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000378449.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	534					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCAGTGGAGGGCCTGGCCTA	0.627																																						uc002hja.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1600-1602)Ggc>Agc		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.							83	70	74					17																	33497185		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33497185G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1600G>A	17.37:g.33497185G>A	ENSP00000268876:p.Gly534Ser					UNC45B_uc002hjb.3_Missense_Mutation_p.G534S|UNC45B_uc002hjc.3_Missense_Mutation_p.G534S|UNC45B_uc010cto.3_Intron	p.G534S	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			11	1697	+		Ovarian(249;0.17)	534					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1600G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654313	0.96724	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.28454	1.61;3.66;1.61	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70974	-0.4726	10	0.87932	D	0	-32.2218	17.634	0.88117	0.0:0.0:1.0:0.0	.	534;534	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	S	534	ENSP00000378071:G534S;ENSP00000268876:G534S;ENSP00000412840:G534S	ENSP00000268876:G534S	G	+	1	0	UNC45B	30521298	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.601000	0.98297	2.630000	0.89119	0.655000	0.94253	GGC		0.627	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33497185	G	A	33497185	3	1	28	1	0	0	0	0	1	0	0	0	16986	1232	43	3	1642	3	UNC45B	17	33497185	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	25222483	33497185	47698025	49	1841											
TMC6	11322	broad.mit.edu	37	chr17	76120076	76120076	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggcattacctgtacAccagggtgatgcaggtgata	10	9	15	7	0	0	2	0	2	0	0	0	3	0	3	2	5	3	3	2	5	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76120076A>C	ENST00000590602.1	-	9	1235	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.V359G|TMC6_ENST00000322914.3_Missense_Mutation_p.V359G|TMC6_ENST00000306591.7_Missense_Mutation_p.V359G|TMC6_ENST00000589553.1_Missense_Mutation_p.V132G|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTACCTGTACACCAGGGTGAT	0.552																																						uc002juj.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1075-1077)gTg>gGg		Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.							79	72	74					17																	76120076		2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120076A>C	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1076T>G	17.37:g.76120076A>C	ENSP00000465261:p.Val359Gly					TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.4_Missense_Mutation_p.V150G|TMC6_uc002jun.4_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	p.V359G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		7	1202	-			359					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1076T>G	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833637	0.71258	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.66638	-0.22;-0.22;-0.22	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.81950	0.4931	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.978;1.0;0.996	D;P;D;D	0.80764	0.994;0.868;0.946;0.954	D	0.84994	0.0896	10	0.87932	D	0	-28.0279	13.4805	0.61332	1.0:0.0:0.0:0.0	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	G	359	ENSP00000313408:V359G;ENSP00000376260:V359G;ENSP00000306405:V359G	ENSP00000306405:V359G	V	-	2	0	TMC6	73631671	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	8.718000	0.91430	1.581000	0.49865	0.374000	0.22700	GTG		0.552	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			C	76120076	A	C	76120076	3	2	28	1	0	0	0	0	1	0	0	0	15986	159	6	5	1389	5	TMC6	17	76120076	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08	42622891	76120076	5075134	50	1842											
CANT1	124583	broad.mit.edu	37	chr17	76989644	76989644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttttgagttaaatgaactcGatgccttcgtatttcacgct	9	16	8	8	3	1	2	1	2	0	0	3	3	1	2	1	0	2	4	1	0	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76989644G>C	ENST00000302345.2	-	4	1688	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CANT1_ENST00000591773.1_Missense_Mutation_p.I398M|CANT1_ENST00000392446.5_Missense_Mutation_p.I398M	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	398					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AAATGAACTCGATGCCTTCGT	0.478			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jwj.3				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(1192-1194)atC>atG		Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.							77	63	68					17																	76989644		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76989644G>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.1194C>G	17.37:g.76989644G>C	ENSP00000307674:p.Ile398Met		OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	CANT1_uc002jwn.3_Missense_Mutation_p.I398M|CANT1_uc002jwk.3_Missense_Mutation_p.I398M|CANT1_uc002jwl.2_Intron	p.I398M	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	1689	-			398					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.1194C>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832738	0.32421	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.88818	-2.43;-2.43	5.16	-3.85	0.04243	.	0.235253	0.41500	D	0.000874	D	0.92241	0.7539	M	0.85197	2.74	0.43761	D	0.99627	D	0.58970	0.984	D	0.65443	0.935	D	0.89983	0.4102	10	0.72032	D	0.01	-12.4829	9.2802	0.37725	0.2907:0.0:0.5329:0.1764	.	398	Q8WVQ1	CANT1_HUMAN	M	398;398;347	ENSP00000307674:I398M;ENSP00000376241:I398M	ENSP00000307674:I398M	I	-	3	3	CANT1	74501239	0.080000	0.21391	0.007000	0.13788	0.261000	0.26267	-0.695000	0.05109	-0.688000	0.05155	-0.410000	0.06199	ATC		0.478	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		C	76989644	G	C	76989644	3	2	28	1	0	0	0	0	1	0	0	0	2617	1048	37	5	15	5	CANT1	17	76989644	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	869568	76989644	4205566	51	1843											
RPTOR	57521	broad.mit.edu	37	chr17	78797000	78797000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcagcccgcgtctgccGcccacgtacatgcacgccat	7	6	10	18	5	2	0	1	0	1	0	2	0	2	0	4	0	5	3	4	0	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:78797000G>A	ENST00000306801.3	+	9	1475	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	RPTOR_ENST00000537330.1_Silent_p.P186P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P371P|RPTOR_ENST00000570891.1_Silent_p.P371P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	371					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCGTCTGCCGCCCACGTACA	0.562																																						uc002jyt.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1111-1113)ccG>ccA		Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.							86	90	88					17																	78797000		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78797000G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1113G>A	17.37:g.78797000G>A						RPTOR_uc002jys.3_Silent_p.P371P|RPTOR_uc010wuf.1_Silent_p.P186P|RPTOR_uc010wug.1_Silent_p.P371P	p.P371P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			8	1918	+			371					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.1113G>A	CCDS11773.1																																																																																				0.562	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		A	78797000	G	A	78797000	2	1	28	1	0	0	0	0	0	0	0	1	13665	1074	38	1		1	RPTOR	17	78797000	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	1807356	78797000	2398210	52	1844											
TMX3	54495	broad.mit.edu	37	chr18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaatggccacaccatggcGcataaaacttgttttaaaaa	16	10	6	9	1	0	0	0	0	0	0	0	0	0	0	2	2	2	2	2	2	7	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323																																						uc002lkf.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(148-150)gCg>gTg		Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.							55	49	51					18																	66377374		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66377374G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.149C>T	18.37:g.66377374G>A	ENSP00000299608:p.Ala50Val					TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.4_Missense_Mutation_p.A50V	p.A50V	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			3	284	-			50			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.149C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916459	0.92249	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.10192	2.9;2.9;2.9	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61352	-0.7080	10	0.87932	D	0	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	50;50;50	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	V	50	ENSP00000299608:A50V;ENSP00000444954:A50V;ENSP00000402605:A50V	ENSP00000299608:A50V	A	-	2	0	TMX3	64528354	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.738000	0.98835	2.619000	0.88677	0.563000	0.77884	GCG		0.323	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		A	66377374	G	A	66377374	3	1	28	1	0	0	0	0	1	0	0	0	16265	1087	38	1	1267	1	TMX3	18	66377374	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		66377374	11699874	53	1845											
RTTN	25914	broad.mit.edu	37	chr18	67718690	67718690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagggccacggtaacaaaCgggagtgtgatggcaccagc	11	4	15	11	2	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	2	1	rs186543005	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:67718690C>T	ENST00000255674.6	-	39	5566	c.5280G>A	c.(5278-5280)ccG>ccA	p.P1760P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1760					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CGGTAACAAACGGGAGTGTGA	0.428													C|||	3	0.000599042	0	0	5008	,	,		17025	0.001		0.001	False		,,,				2504	0.001					uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5278-5280)ccG>ccA		Homo sapiens rotatin (RTTN), mRNA.		C		0,3834		0,0,1917	101	90	93		5280	-10.8	0	18		93	6,8268		0,6,4131	no	coding-synonymous	RTTN	NM_173630.3		0,6,6048	TT,TC,CC		0.0725,0.0,0.0496		1760/2227	67718690	6,12102	1917	4137	6054	SO:0001819	synonymous_variant	25914						binding	g.chr18:67718690C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5280G>A	18.37:g.67718690C>T						RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	p.P1760P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			38	5348	-		Esophageal squamous(42;0.129)	1760					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5280G>A	CCDS42443.1																																																																																				0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		T	67718690	C	T	67718690	2	4	28	1	0	0	0	0	0	0	0	1	13737	523	19	1		1	RTTN	18	67718690	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	1341316	67718690	10358558	54	1846											
ODF3L2	284451	broad.mit.edu	37	chr19	463966	463966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccctggctttgttcaCggtgacctgctctgggcagt	4	12	14	11	1	2	1	1	1	1	0	2	2	2	2	2	4	2	4	2	4	0	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:463966C>T	ENST00000315489.4	-	4	983	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	ODF3L2_ENST00000382696.3_Missense_Mutation_p.V214M|SHC2_ENST00000264554.6_5'Flank	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	250						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GCTTTGTTCACGGTGACCTGC	0.731																																						uc002lor.3																			0				large_intestine(1)|lung(2)	3						c.(748-750)Gtg>Atg		Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.							24	28	27					19																	463966		2194	4290	6484	SO:0001583	missense	284451							g.chr19:463966C>T	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.748G>A	19.37:g.463966C>T	ENSP00000318029:p.Val250Met					SHC2_uc002loq.4_5'Flank|ODF3L2_uc010drp.3_Missense_Mutation_p.V214M	p.V250M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN			3	984	-			250					Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	c.748G>A	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494544	0.12702	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.48201	1.38;0.82	3.81	1.53	0.23141	.	0.485779	0.21166	N	0.079075	T	0.19765	0.0475	N	0.17594	0.5	0.26532	N	0.974241	B;P	0.40282	0.421;0.711	B;B	0.27715	0.023;0.082	T	0.10474	-1.0628	10	0.22706	T	0.39	-10.1304	4.9108	0.13821	0.0:0.6005:0.1793:0.2202	.	214;250	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	M	250;214	ENSP00000318029:V250M;ENSP00000372143:V214M	ENSP00000318029:V250M	V	-	1	0	ODF3L2	414966	0.000000	0.05858	0.428000	0.26697	0.440000	0.31957	0.735000	0.26115	0.712000	0.32039	0.555000	0.69702	GTG		0.731	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		T	463966	C	T	463966	3	4	28	1	0	0	0	0	1	0	0	0	10832	536	19	1	125	1	ODF3L2	19	463966	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		463966	58665017	55	1847											
PIAS4	51588	broad.mit.edu	37	chr19	4012940	4012940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacatggtgatgagttttcGagtctccgaccttcagatgc	9	12	11	9	2	2	3	1	2	1	1	4	6	2	3	2	1	2	1	2	1	1	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:4012940G>A	ENST00000262971.2	+	2	162	c.47G>A	c.(46-48)cGa>cAa	p.R16Q		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	16	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186, ECO:0000305}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R16L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGTTTTCGAGTCTCCGAC	0.597																																						uc002lzg.3																			1	Substitution - Missense(1)	p.R16L(2)	lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(46-48)cGa>cAa		Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.							128	122	124					19																	4012940		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4012940G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.47G>A	19.37:g.4012940G>A	ENSP00000262971:p.Arg16Gln						p.R16Q	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	1	57	+			16			SAP.		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.47G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371786	0.95923	.	.	ENSG00000105229	ENST00000262971	T	0.57436	0.4	5.08	5.08	0.68730	DNA-binding SAP (3);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73151	-0.4073	10	0.87932	D	0	-7.5536	17.4313	0.87540	0.0:0.0:1.0:0.0	.	16	Q8N2W9	PIAS4_HUMAN	Q	16	ENSP00000262971:R16Q	ENSP00000262971:R16Q	R	+	2	0	PIAS4	3963940	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.808000	0.99193	2.358000	0.79984	0.561000	0.74099	CGA		0.597	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		A	4012940	G	A	4012940	3	1	28	1	0	0	0	0	1	0	0	0	11878	1058	37	2	53	2	PIAS4	19	4012940	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	3548974	4012940	55116043	56	1848											
ICAM4	3386	broad.mit.edu	37	chr19	10398368	10398368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaagcctggagcgcttcaCcggcctggatctggccaacg	8	6	13	14	4	2	0	1	0	1	0	2	3	2	2	4	4	3	1	4	4	2	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:10398368C>G	ENST00000380770.3	+	2	597	c.551C>G	c.(550-552)aCc>aGc	p.T184S	ICAM4_ENST00000340992.4_Missense_Mutation_p.H158Q|ICAM4_ENST00000393717.2_Missense_Mutation_p.T184S|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	184	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCGCTTCACCGGCCTGGAT	0.627																																						uc002mnr.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(472-474)caC>caG		Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.							75	63	67					19																	10398368		2203	4300	6503	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398368C>G	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.551C>G	19.37:g.10398368C>G	ENSP00000370147:p.Thr184Ser					ICAM4_uc002mns.2_Missense_Mutation_p.T184S|ICAM4_uc002mnt.2_Missense_Mutation_p.T184S|ICAM5_uc002mnu.4_5'Flank	p.H158Q	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	520	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.474C>G	CCDS12232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.375433|1.375433	0.24857|0.24857	.|.	.|.	ENSG00000105371|ENSG00000105371	ENST00000340992|ENST00000380770;ENST00000393717	T|T;T	0.22945|0.05717	1.93|3.4;3.4	4.53|4.53	-2.53|-2.53	0.06326|0.06326	.|Immunoglobulin-like fold (1);	1.470860|.	0.04578|.	U|.	0.394513|.	T|T	0.02727|0.02727	0.0082|0.0082	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|P;P	0.19331|0.37500	0.035|0.597;0.462	B|B;B	0.12156|0.34722	0.007|0.188;0.133	T|T	0.42498|0.42498	-0.9448|-0.9448	9|8	0.72032|0.07990	D|T	0.01|0.79	-0.3872|-0.3872	8.534|8.534	0.33351|0.33351	0.5552:0.3074:0.1374:0.0|0.5552:0.3074:0.1374:0.0	.|.	158|184;184	Q9BWR0|Q14773-2;Q14773	.|.;ICAM4_HUMAN	Q|S	158|184	ENSP00000342114:H158Q|ENSP00000370147:T184S;ENSP00000377320:T184S	ENSP00000342114:H158Q|ENSP00000370147:T184S	H|T	+|+	3|2	2|0	ICAM4|ICAM4	10259368|10259368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.051000|-0.051000	0.11885|0.11885	-0.675000|-0.675000	0.05246|0.05246	0.462000|0.462000	0.41574|0.41574	CAC|ACC		0.627	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		G	10398368	C	G	10398368	3	3	28	1	0	0	0	0	1	0	0	0	7482	507	18	5	557	5	ICAM4	19	10398368	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	6385428	10398368	48730615	57	1849											
RGL3	57139	broad.mit.edu	37	chr19	11526629	11526629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtccacacctgaggCggctcctcttcctgctctcg	4	11	8	18	2	3	1	1	1	2	0	7	1	6	1	5	2	1	2	5	2	0	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:11526629C>T	ENST00000380456.3	-	5	684	c.621G>A	c.(619-621)ccG>ccA	p.P207P	RGL3_ENST00000393423.3_Silent_p.P207P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	207					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACACCTGAGGCGGCTCCTCTT	0.567																																					GBM(174;751 2067 17998 27979 33959)	uc002mro.2																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(619-621)ccG>ccA		Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.							150	158	155					19																	11526629		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526629C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.621G>A	19.37:g.11526629C>T						RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Silent_p.P207P	p.P207P	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN			4	685	-			207					B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.621G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	1.840	-0.467640	0.04476	.	.	ENSG00000205517	ENST00000342684	.	.	.	3.49	2.43	0.29744	.	.	.	.	.	T	0.37758	0.1015	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	5	0.39692	T	0.17	.	8.2334	0.31612	0.0:0.7834:0.0:0.2166	.	.	.	.	T	8	.	ENSP00000344665:A8T	A	-	1	0	RGL3	11387629	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.104000	0.31074	0.486000	0.27676	-1.203000	0.01651	GCC		0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		T	11526629	C	T	11526629	2	4	28	1	0	0	0	0	0	0	0	1	13278	755	27	1		1	RGL3	19	11526629	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	1128261	11526629	47602354	58	1850											
ZNF91	7644	broad.mit.edu	37	chr19	23545038	23545038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtaagggttgagagctgcTtaaaagctttgccacattct	11	13	10	7	0	1	1	0	1	1	1	1	2	1	1	1	1	4	5	1	1	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:23545038T>C	ENST00000300619.7	-	4	948	c.743A>G	c.(742-744)aAg>aGg	p.K248R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K216R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	248					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAGAGCTGCTTAAAAGCTTT	0.363																																						uc002nre.3																			0											c.(742-744)aAg>aGg		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							97	108	104					19																	23545038		2172	4289	6461	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545038T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.743A>G	19.37:g.23545038T>C	ENSP00000300619:p.Lys248Arg					ZNF91_uc010xrj.2_Missense_Mutation_p.K216R	p.K248R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	856	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	248					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.743A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.356943	0.01245	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.20881	2.04;2.04	1.66	-3.32	0.04973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	N	0.02391	-0.57	0.09310	N	1	B;B	0.25850	0.136;0.022	B;B	0.21546	0.035;0.022	T	0.41070	-0.9529	9	0.12430	T	0.62	.	5.4633	0.16630	0.0:0.5784:0.1867:0.2349	.	216;248	Q05481-2;Q05481	.;ZNF91_HUMAN	R	248;216	ENSP00000300619:K248R;ENSP00000380272:K216R	ENSP00000300619:K248R	K	-	2	0	ZNF91	23336878	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.128000	0.00148	-0.527000	0.06374	0.147000	0.16070	AAG		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		C	23545038	T	C	23545038	3	2	28	1	0	0	0	0	1	0	0	0	18197	1609	56	4	2836	4	ZNF91	19	23545038	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	12018409	23545038	35583945	59	1851											
HIPK4	147746	broad.mit.edu	37	chr19	40886782	40886782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcccctccacttgcagCgagaggcggtagctgcgcag	6	7	14	14	3	0	1	0	0	0	1	2	2	2	1	3	3	4	5	3	3	1	3	rs148513270	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:40886782C>T	ENST00000291823.2	-	3	1400	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	372					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACTTGCAGCGAGAGGCGGT	0.667																																						uc002onp.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1114-1116)tcG>tcA		Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.		C		4,4396		0,4,2196	61	66	64		1116	-11.6	0.1	19	dbSNP_134	64	0,8590		0,0,4295	no	coding-synonymous	HIPK4	NM_144685.3		0,4,6491	TT,TC,CC		0.0,0.0909,0.0308		372/617	40886782	4,12986	2200	4295	6495	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886782C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1116G>A	19.37:g.40886782C>T							p.S372S	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	1401	-			372					A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.1116G>A	CCDS12555.1																																																																																				0.667	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		T	40886782	C	T	40886782	2	4	28	1	0	0	0	0	0	0	0	1	7119	755	27	1		1	HIPK4	19	40886782	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	17341744	40886782	18242201	60	1852											
NLRP11	204801	broad.mit.edu	37	chr19	56320789	56320789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccagcaaacacagaCgttttaggagacctaggtga	13	7	11	10	1	0	3	0	1	0	2	0	4	0	3	2	2	4	3	2	2	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:56320789C>T	ENST00000589093.1	-	3	1280	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP11_ENST00000592953.1_Missense_Mutation_p.R297H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R396H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R396H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R396H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	396	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAACACAGACGTTTTAGGAG	0.493																																						uc010ygf.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1186-1188)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.							82	81	81					19																	56320789		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320789C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1187G>A	19.37:g.56320789C>T	ENSP00000466285:p.Arg396His					NLRP11_uc002qlz.3_Missense_Mutation_p.R297H|NLRP11_uc002qmb.3_Missense_Mutation_p.R297H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	p.R396H	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1898	-		Colorectal(82;0.0002)	396			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1187G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514577	0.44763	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74947	-0.89;-0.82	2.48	2.48	0.30137	.	.	.	.	.	T	0.75295	0.3830	L	0.38175	1.15	0.09310	N	1	D;D	0.76494	0.996;0.999	P;P	0.61201	0.771;0.885	T	0.62153	-0.6914	9	0.49607	T	0.09	.	8.568	0.33552	0.0:1.0:0.0:0.0	.	396;396	P59045;P59045-2	NAL11_HUMAN;.	H	396	ENSP00000409898:R396H;ENSP00000353251:R396H	ENSP00000353251:R396H	R	-	2	0	NLRP11	61012601	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.088000	0.11198	1.700000	0.51204	0.655000	0.94253	CGT		0.493	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		T	56320789	C	T	56320789	3	4	28	1	0	0	0	0	1	0	0	0	10473	536	19	1	1946	1	NLRP11	19	56320789	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	15434007	56320789	2808194	61	1853											
SEMG1	6406	broad.mit.edu	37	chr20	43836290	43836290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaggcagagaccatgatAaatcaaaaggtcattttcac	18	8	8	7	0	3	3	3	1	0	2	3	4	3	3	1	2	0	1	1	2	6	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:43836290A>G	ENST00000372781.3	+	2	409	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SEMG1_ENST00000244069.6_Missense_Mutation_p.K118E	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	118	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGACCATGATAAATCAAAAGG	0.408																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							109	96	101					20																	43836290		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836290A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.352A>G	20.37:g.43836290A>G	ENSP00000361867:p.Lys118Glu					SEMG2_uc002xni.2_Missense_Mutation_p.K118E|SEMG2_uc002xnj.2_Missense_Mutation_p.K118E		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	6.095	0.385814	0.11524	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.12774	2.65;2.65	0.807	-1.44	0.08856	.	.	.	.	.	T	0.24392	0.0591	M	0.63843	1.955	0.09310	N	1	D;P;D	0.76494	0.998;0.941;0.999	D;P;D	0.83275	0.991;0.874;0.996	T	0.18713	-1.0328	9	0.21540	T	0.41	.	3.8456	0.08933	0.4648:0.0:0.5352:0.0	.	118;118;118	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	E	118	ENSP00000244069:K118E;ENSP00000361867:K118E	ENSP00000244069:K118E	K	+	1	0	SEMG1	43269704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.618000	0.05578	-0.603000	0.05767	-0.385000	0.06624	AAA		0.408	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		G	43836290	A	G	43836290	3	3	28	1	0	0	0	0	1	0	0	0	14044	363	13	4	358	4	SEMG1	20	43836290	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		43836290	19189230	62	1854											
MC3R	4159	broad.mit.edu	37	chr20	54824329	54824329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgccgtcgacaggtacGtcaccatcttttacgcgctc	7	10	8	16	6	2	0	1	0	1	0	5	1	2	0	3	1	2	2	3	1	2	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:54824329G>A	ENST00000243911.2	+	1	542	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	144					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGACAGGTACGTCACCATCTT	0.582																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(430-432)Gtc>Atc		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							185	160	168					20																	54824329		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824329G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.430G>A	20.37:g.54824329G>A	ENSP00000243911:p.Val144Ile						p.V144I	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	542	+			181					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.430G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	2.958	-0.215335	0.06101	.	.	ENSG00000124089	ENST00000243911	T	0.19250	2.16	5.21	-0.878	0.10617	GPCR, rhodopsin-like superfamily (1);	0.282172	0.27130	N	0.020794	T	0.07324	0.0185	N	0.11154	0.105	0.31841	N	0.623423	B	0.21753	0.06	B	0.13407	0.009	T	0.44952	-0.9294	10	0.02654	T	1	.	8.6695	0.34140	0.681:0.0:0.319:0.0	.	181	P41968	MC3R_HUMAN	I	144	ENSP00000243911:V144I	ENSP00000243911:V144I	V	+	1	0	MC3R	54257736	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	3.003000	0.49505	-0.028000	0.13850	-0.157000	0.13467	GTC		0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824329	G	A	54824329	3	1	28	1	0	0	0	0	1	0	0	0	9365	1145	40	1	432	1	MC3R	20	54824329	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	10988039	54824329	8201191	63	1855											
ITGB2	3689	broad.mit.edu	37	chr21	46320234	46320234	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctggggtggggacttaCgaattcgttgctcctcttgt	4	14	14	9	2	1	0	0	0	1	0	3	2	2	1	2	4	3	2	2	4	2	4	rs201752283		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr21:46320234C>T	ENST00000397850.2	-	8	1350		c.e8+1		ITGB2_ENST00000397854.3_Splice_Site|ITGB2_ENST00000397852.1_Splice_Site|ITGB2_ENST00000397857.1_Splice_Site|ITGB2_ENST00000355153.4_Splice_Site|ITGB2_ENST00000302347.5_Splice_Site			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGGACTTACGAATTCGTTG	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16834	0		0	False		,,,				2504	0					uc002zgd.2																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35	GRCh37	CS920765	ITGB2	S		c.e6+1		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						116	92	100					21																	46320234		2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320234C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1G>A	21.37:g.46320234C>T						ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	p.F299_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	941	-			299			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.897_splice	CCDS13716.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.19	1.864750	0.32977	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5843	0.76470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGB2	45144662	1.000000	0.71417	0.779000	0.31741	0.008000	0.06430	7.108000	0.77055	2.546000	0.85860	0.591000	0.81541	.		0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Intron	T	46320234	C	T	46320234	5	4	28	1	0	0	0	0	0	0	1	0	7894	550	19	1	1451	1	ITGB2	21	46320234	Splice_Site	SNP	C	TCGA-06-0158-01A-01D-1491-08		46320234	1809661	64	1856											
SGSM1	129049	broad.mit.edu	37	chr22	25315903	25315903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctggtggaagtctacCgtgacatcattttggagaac	9	12	12	8	1	3	2	1	1	2	1	3	4	3	3	1	4	2	1	1	4	3	3	rs200983507		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25315903C>T	ENST00000400359.4	+	25	3308	c.3301C>T	c.(3301-3303)Cgt>Tgt	p.R1101C	SGSM1_ENST00000400358.4_Missense_Mutation_p.R1046C	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1101						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAAGTCTACCGTGACATCAT	0.507																																						uc003abg.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(3301-3303)Cgt>Tgt		Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4188		0,0,2094	99	94	96		3301,3136,2953,3118	4.5	1	22		96	4,8450		0,4,4223	yes	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	180,180,180,180	0,4,6317	TT,TC,CC		0.0473,0.0,0.0316	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1101/1149,1046/1094,985/1033,1040/1088	25315903	4,12638	2094	4227	6321	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25315903C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3301C>T	22.37:g.25315903C>T	ENSP00000383212:p.Arg1101Cys					SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	p.R1101C	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			24	3458	+			1101					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.3301C>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.156348	0.78114	0.0	4.73E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.29397	1.57;1.57	5.53	4.5	0.54988	Rab-GAP/TBC domain (3);	0.047332	0.85682	D	0.000000	T	0.64907	0.2641	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.997;1.0	T	0.75923	-0.3146	10	0.87932	D	0	-7.6935	15.4182	0.74987	0.1395:0.8605:0.0:0.0	.	1046;1101;1118;1101	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	C	1101;1046;1101	ENSP00000383211:R1046C;ENSP00000383212:R1101C	ENSP00000383211:R1046C	R	+	1	0	SGSM1	23645903	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.466000	0.45084	1.455000	0.47813	0.655000	0.94253	CGT		0.507	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		T	25315903	C	T	25315903	3	4	28	1	0	0	0	0	1	0	0	0	14222	652	23	2	3399	2	SGSM1	22	25315903	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		25315903	25988663	65	1857											
THOC5	8563	broad.mit.edu	37	chr22	29913061	29913061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtagtagagattggtgtcCccagccagtcccgcatccac	9	9	10	13	1	0	1	0	0	0	1	3	2	3	1	5	1	1	3	5	1	2	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:29913061C>T	ENST00000490103.1	-	17	1760	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	THOC5_ENST00000397872.1_Silent_p.G546G|THOC5_ENST00000397871.1_Silent_p.G546G|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Silent_p.G546G	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	546					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTGGTGTCCCCAGCCAGTC	0.527																																						uc003afr.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1636-1638)ggG>ggA		Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.							153	140	144					22																	29913061		2203	4300	6503	SO:0001819	synonymous_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29913061C>T	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1638G>A	22.37:g.29913061C>T						THOC5_uc003afq.3_Silent_p.G207G|THOC5_uc003afs.3_Silent_p.G546G|THOC5_uc003aft.3_Silent_p.G546G|THOC5_uc003afu.3_Silent_p.G546G	p.G546G	NM_001002878	NP_003669	Q13769	THOC5_HUMAN			17	1973	-			546					O60839|Q9UPZ5	Silent	SNP	ENST00000490103.1	37	c.1638G>A	CCDS13859.1																																																																																				0.527	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		T	29913061	C	T	29913061	2	4	28	1	0	0	0	0	0	0	0	1	15865	610	22	3		3	THOC5	22	29913061	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	4597158	29913061	21391505	66	1858											
FAM46D	169966	broad.mit.edu	37	chrX	79699116	79699116	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtactttgcagctgaggcaAggtaccctatttatgtaata	11	13	9	8	1	0	1	0	1	0	0	0	1	0	1	1	2	4	6	1	2	7	8			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:79699116A>T	ENST00000308293.5	+	3	1317	c.1078A>T	c.(1078-1080)Agg>Tgg	p.R360W	FAM46D_ENST00000538312.1_Missense_Mutation_p.R360W	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	360										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCTGAGGCAAGGTACCCTAT	0.428																																						uc022bzm.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1078-1080)Agg>Tgg		Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.							67	59	61					X																	79699116		2202	4298	6500	SO:0001583	missense	169966							g.chrX:79699116A>T	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.1078A>T	X.37:g.79699116A>T	ENSP00000308575:p.Arg360Trp					FAM46D_uc004edl.1_Missense_Mutation_p.R360W|FAM46D_uc004edm.2_Missense_Mutation_p.R360W	p.R360W	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			0	1078	+			360					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.1078A>T	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227441	0.06022	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.22945	1.93;1.93	4.69	2.34	0.29019	.	0.578475	0.16488	U	0.212251	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.32393	0.145	T	0.28396	-1.0045	10	0.39692	T	0.17	0.4408	6.9851	0.24723	0.6721:0.0:0.3279:0.0	.	360	Q8NEK8	FA46D_HUMAN	W	360	ENSP00000443410:R360W;ENSP00000308575:R360W	ENSP00000308575:R360W	R	+	1	2	FAM46D	79585772	0.121000	0.22262	0.001000	0.08648	0.003000	0.03518	0.587000	0.23909	-0.014000	0.14175	-0.180000	0.13094	AGG		0.428	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		T	79699116	A	T	79699116	3	4	28	1	0	0	0	0	1	0	0	0	5568	63	3	5	1080	5	FAM46D	23	79699116	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		79699116	75571444	67	1859											
SPRY3	10251	broad.mit.edu	37	chrX	155004303	155004303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggctatgatagcctccggcGaccaggctgccgctgcaaga	8	6	14	13	3	0	2	0	1	0	1	1	3	1	2	4	3	3	4	4	3	3	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:155004303G>A	ENST00000302805.2	+	2	1201	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	257	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTCCGGCGACCAGGCTGC	0.582																																						uc022cio.1																			0											c.(769-771)cGa>cAa		Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.							155	149	151					X																	155004303		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004303G>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.770G>A	X.37:g.155004303G>A	ENSP00000302978:p.Arg257Gln					SPRY3_uc004fnq.1_Missense_Mutation_p.R257Q	p.R257Q	NM_005840	NP_005831	O43610	SPY3_HUMAN			0	770	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		257			Cys-rich.|SPR.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.770G>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975182	0.74360	.	.	ENSG00000168939	ENST00000302805	T	0.61040	0.14	2.94	2.94	0.34122	.	0.000000	0.64402	D	0.000007	T	0.71492	0.3346	.	.	.	0.09310	N	1	D	0.65815	0.995	D	0.76575	0.988	T	0.61598	-0.7030	9	0.72032	D	0.01	-18.0774	10.9825	0.47504	0.0:0.0:1.0:0.0	.	257	O43610	SPY3_HUMAN	Q	257	ENSP00000302978:R257Q	ENSP00000302978:R257Q	R	+	2	0	SPRY3	154657497	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.117000	0.94347	1.494000	0.48533	0.279000	0.19357	CGA		0.582	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		A	155004303	G	A	155004303	3	1	28	1	0	0	0	0	1	0	0	0	15106	1058	37	2	772	2	SPRY3	23	155004303	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	75305187	155004303	266257	68	1860											
DVL3	1857	broad.mit.edu	37	chr3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcaccttccctgcatacgGcatgagcccctccctgagca	7	7	9	18	2	0	2	0	2	0	0	2	2	2	2	5	2	4	4	5	2	1	2			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr3:183884692G>A	ENST00000313143.3	+	11	1375	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G359D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	376					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647																																						uc003fms.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1126-1128)gGc>gAc		Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.							127	119	122					3																	183884692		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884692G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1127G>A	3.37:g.183884692G>A	ENSP00000316054:p.Gly376Asp					DVL3_uc011bqw.2_Missense_Mutation_p.G359D|DVL3_uc003fmt.3_Missense_Mutation_p.G47D|DVL3_uc003fmu.3_Missense_Mutation_p.G208D	p.G376D	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		10	1267	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		376					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1127G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398229	0.83120	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.71;3.69	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.68593	2.085	0.80722	D	1	P;P;B;D	0.57257	0.94;0.94;0.232;0.979	P;P;B;P	0.55222	0.694;0.76;0.113;0.771	T	0.00172	-1.1958	10	0.33141	T	0.24	-34.8595	20.4387	0.99107	0.0:0.0:1.0:0.0	.	359;208;376;376	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	376;376;359	ENSP00000316054:G376D;ENSP00000405885:G359D	ENSP00000316054:G376D	G	+	2	0	DVL3	185367386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.836000	0.97738	0.655000	0.94253	GGC		0.647	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		A	183884692	G	A	183884692	3	1	29	1	0	0	0	0	1	0	0	0	4837	1203	42	3	1169	3	DVL3	3	183884692	Missense_Mutation	SNP	G	TCGA-06-0165-01A-01D-1491-08		183884692	14137738	1	1861											
FAT4	79633	broad.mit.edu	37	chr4	126372195	126372195	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttgatttttggtaatagtCgaaagaagggtttccagatc	12	15	10	4	1	0	3	0	1	0	2	3	4	1	3	1	2	0	2	1	2	4	6			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:126372195C>T	ENST00000394329.3	+	9	10037	c.10024C>T	c.(10024-10026)Cga>Tga	p.R3342*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1640*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3342	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTAATAGTCGAAAGAAGGG	0.408																																						uc003ifj.4																			0		p.R3342Q(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10024-10026)Cga>Tga		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							102	105	104					4																	126372195		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372195C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10024C>T	4.37:g.126372195C>T	ENSP00000377862:p.Arg3342*					FAT4_uc011cgp.2_Nonsense_Mutation_p.R1640*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R820*	p.R3342*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			8	10024	+			3342			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.10024C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	49	15.784781	0.99845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.42	1.88	0.25563	.	0.000000	0.36932	U	0.002340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	13.0484	0.58939	0.6608:0.3392:0.0:0.0	.	.	.	.	X	3342;1640	.	ENSP00000335169:R1640X	R	+	1	2	FAT4	126591645	0.998000	0.40836	0.264000	0.24511	0.314000	0.28054	1.621000	0.36986	0.469000	0.27268	0.655000	0.94253	CGA		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126372195	C	T	126372195	4	4	29	1	0	0	0	0	0	1	0	0	5692	876	31	2	10058	2	FAT4	4	126372195	Nonsense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		126372195	64782081	2	1862											
CCDC110	256309	broad.mit.edu	37	chr4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaaatctgtaatatttttgCcagtgatgggaatttcttta	11	19	7	4	0	2	1	0	1	2	0	2	2	2	2	1	1	1	1	1	1	6	8			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323																																						uc003ixu.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1093-1095)gGc>gAc		Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.							138	145	142					4																	186380647		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186380647C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1094G>A	4.37:g.186380647C>T	ENSP00000306776:p.Gly365Asp					CCDC110_uc003ixv.4_Missense_Mutation_p.G328D|CCDC110_uc011ckt.1_Missense_Mutation_p.G365D	p.G365D	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	1170	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	365					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1094G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995739	0.02145	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05855	3.38;3.39;3.39	4.83	1.06	0.20224	.	1.031690	0.07655	N	0.932585	T	0.03695	0.0105	N	0.13043	0.29	0.20926	N	0.999826	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47947	-0.9077	10	0.12430	T	0.62	0.6331	6.5267	0.22305	0.0:0.5718:0.0:0.4282	.	365;328;365	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	328;365;365	ENSP00000377172:G328D;ENSP00000306776:G365D;ENSP00000427246:G365D	ENSP00000306776:G365D	G	-	2	0	CCDC110	186617641	0.132000	0.22450	0.656000	0.29637	0.835000	0.47333	0.220000	0.17660	0.317000	0.23160	0.650000	0.86243	GGC		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		T	186380647	C	T	186380647	3	4	29	1	0	0	0	0	1	0	0	0	2747	739	26	3	1415	3	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08	60008452	186380647	4773629	3	1863											
POM121C	100101267	broad.mit.edu	37	chr7	75051383	75051383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtaagggctggcttggCggcccccggtggctgcccct	2	7	19	13	2	0	0	0	0	0	0	0	0	0	0	4	8	1	4	4	8	1	2	rs369177631		TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr7:75051383C>T	ENST00000257665.5	-	11	2877	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.A718T			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	960	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGGCTTGGCGGCCCCCGGT	0.662																																						uc003udk.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2152-2154)Gcc>Acc		Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.		C	THR/ALA	2,4108		0,2,2053	8	10	9		2152	-4	0	7		9	1,8229		0,1,4114	no	missense	POM121C	NM_001099415.1	58	0,3,6167	TT,TC,CC		0.0122,0.0487,0.0243	benign	718/988	75051383	3,12337	2055	4115	6170	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051383C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.2878G>A	7.37:g.75051383C>T	ENSP00000257665:p.Ala960Thr						p.A718T	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			12	3037	-			960			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2152G>A		.	.	.	.	.	.	.	.	.	.	C	0.032	-1.325575	0.01309	4.87E-4	1.22E-4	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.17691	3.75;2.26	2.99	-3.97	0.04094	.	0.581381	0.14180	N	0.336064	T	0.05777	0.0151	N	0.11560	0.145	0.09310	N	1	B	0.27450	0.179	B	0.19148	0.024	T	0.41466	-0.9507	10	0.07990	T	0.79	.	9.0457	0.36345	0.0:0.2224:0.0:0.7776	.	960	A8CG34	P121C_HUMAN	T	960;718	ENSP00000257665:A960T;ENSP00000414208:A718T	ENSP00000257665:A960T	A	-	1	0	POM121C	74889319	0.028000	0.19301	0.001000	0.08648	0.108000	0.19459	-0.297000	0.08276	-0.960000	0.03613	-0.490000	0.04691	GCC		0.662	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		T	75051383	C	T	75051383	3	4	29	1	0	0	0	0	1	0	0	0	12240	768	27	1	823	1	POM121C	7	75051383	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		75051383	84087280	4	1864											
PAX5	5079	broad.mit.edu	37	chr9	37020696	37020696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagatgtcgcagggcCtgacaccttgatgagcaagt	9	8	14	10	1	0	4	0	3	0	1	1	5	0	4	3	2	1	2	3	2	1	1			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr9:37020696C>A	ENST00000358127.4	-	2	223	c.149G>T	c.(148-150)aGg>aTg	p.R50M	PAX5_ENST00000520281.1_Missense_Mutation_p.R50M|PAX5_ENST00000523241.1_Missense_Mutation_p.R50M|PAX5_ENST00000377847.2_Missense_Mutation_p.R50M|PAX5_ENST00000377853.2_Missense_Mutation_p.R50M|PAX5_ENST00000414447.1_Missense_Mutation_p.R50M|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.R50M|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.R50M|PAX5_ENST00000377852.2_Missense_Mutation_p.R50M	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	50	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTCGCAGGGCCTGACACCTTG	0.542			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	uc003zzo.1				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	41	Unknown(41)	p.?(41)	haematopoietic_and_lymphoid_tissue(41)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(148-150)aGg>aTg		Homo sapiens paired box 5 (PAX5), mRNA.							129	120	123					9																	37020696		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37020696C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.149G>T	9.37:g.37020696C>A	ENSP00000350844:p.Arg50Met					PAX5_uc011lqc.1_Missense_Mutation_p.R50M|PAX5_uc010mlr.1_Missense_Mutation_p.R50M|PAX5_uc011lpw.1_Missense_Mutation_p.R50M|PAX5_uc011lpx.1_Missense_Mutation_p.R50M|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R50M|PAX5_uc011lpz.1_Missense_Mutation_p.R50M|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R50M|PAX5_uc010mlp.1_Missense_Mutation_p.R50M|PAX5_uc011lqd.1_Missense_Mutation_p.R49M|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	p.R50M	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	1	597	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	50			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.149G>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024086	0.93462	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99677	-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37	5.59	5.59	0.84812	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.993;1.0;1.0;0.993;1.0;1.0;0.999;0.993;0.993	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.981;0.998;0.999;0.981;1.0;1.0;0.995;0.981;0.981	D	0.96686	0.9507	10	0.87932	D	0	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	49;50;50;50;50;50;50;50;50;50	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	M	50	ENSP00000350844:R50M;ENSP00000367084:R50M;ENSP00000367083:R50M;ENSP00000429637:R50M;ENSP00000429291:R50M;ENSP00000430773:R50M;ENSP00000404687:R50M;ENSP00000412188:R50M;ENSP00000367078:R50M	ENSP00000350844:R50M	R	-	2	0	PAX5	37010696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.624000	0.88883	0.655000	0.94253	AGG		0.542	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			A	37020696	C	A	37020696	3	1	29	1	0	0	0	0	1	0	0	0	11482	681	24	5	1062	5	PAX5	9	37020696	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		37020696	104192735	5	1865											
CEP152	22995	broad.mit.edu	37	chr15	49054838	49054838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcttagactgccactccTtttcaagctgttgaatgagt	9	13	8	11	0	1	3	1	2	0	1	2	3	2	3	3	0	3	3	3	0	3	4			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr15:49054838T>C	ENST00000380950.2	-	18	2499	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	CEP152_ENST00000399334.3_Missense_Mutation_p.K771R|CEP152_ENST00000325747.5_Missense_Mutation_p.K678R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	771					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCACTCCTTTTCAAGCTG	0.338																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2311-2313)aAg>aGg		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							70	68	69					15																	49054838		1822	4081	5903	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054838T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2312A>G	15.37:g.49054838T>C	ENSP00000370337:p.Lys771Arg					CEP152_uc001zwy.3_Missense_Mutation_p.K771R|CEP152_uc001zxa.2_Missense_Mutation_p.K678R	p.K771R	NM_001194998	NP_001181927	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2505	-		all_lung(180;0.0428)	771					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2312A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	9.679	1.148909	0.21288	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.54866	0.57;0.57;0.55	4.93	2.59	0.31030	.	0.278702	0.39615	N	0.001320	T	0.29190	0.0726	L	0.29908	0.895	0.26270	N	0.978441	B;B;B	0.18013	0.008;0.023;0.025	B;B;B	0.18561	0.009;0.011;0.022	T	0.23547	-1.0185	10	0.02654	T	1	-11.0555	4.0896	0.09963	0.1733:0.1357:0.0:0.6909	.	678;771;771	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	771;678;771	ENSP00000370337:K771R;ENSP00000321000:K678R;ENSP00000382271:K771R	ENSP00000321000:K678R	K	-	2	0	CEP152	46842130	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.346000	0.19997	0.961000	0.38030	0.533000	0.62120	AAG		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		C	49054838	T	C	49054838	3	2	29	1	0	0	0	0	1	0	0	0	3248	1609	56	4	2688	4	CEP152	15	49054838	Missense_Mutation	SNP	T	TCGA-06-0165-01A-01D-1491-08		49054838	53476554	6	1866											
ABCC1	4363	broad.mit.edu	37	chr16	16101808	16101808	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctctcccgacatgacCgaggctacattcagatgaca	11	10	7	13	2	3	3	1	2	2	1	5	5	4	3	2	1	1	1	2	1	2	3			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr16:16101808C>T	ENST00000399410.3	+	2	359	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ABCC1_ENST00000345148.5_Nonsense_Mutation_p.R62*|ABCC1_ENST00000399408.2_Nonsense_Mutation_p.R62*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.R62*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.R62*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.R62*	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	62					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCGACATGACCGAGGCTACAT	0.537																																						uc010bvi.3																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(184-186)Cga>Tga		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						193	175	181					16																	16101808		1916	4125	6041	SO:0001587	stop_gained	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16101808C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.184C>T	16.37:g.16101808C>T	ENSP00000382342:p.Arg62*					ABCC1_uc010bvj.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvk.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvm.3_Nonsense_Mutation_p.R62*|ABCC1_uc002del.4_5'Flank	p.R62*	NM_004996	NP_004987	P33527	MRP1_HUMAN			1	359	+			62					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Nonsense_Mutation	SNP	ENST00000399410.3	37	c.184C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	37	6.368310	0.97511	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	.	.	.	4.95	1.45	0.22620	.	0.205163	0.40908	D	0.000999	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4043	12.5657	0.56308	0.5285:0.4715:0.0:0.0	.	.	.	.	X	62	.	ENSP00000263014:R62X	R	+	1	2	ABCC1	16009309	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	2.336000	0.43938	0.460000	0.27045	-0.202000	0.12741	CGA		0.537	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16101808	C	T	16101808	4	4	29	1	0	0	0	0	0	1	0	0	49	644	23	2	190	2	ABCC1	16	16101808	Nonsense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		16101808	74252945	7	1867											
B4GALT6	9331	broad.mit.edu	37	chr18	29225320	29225320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaatttacctcacctTccatctgggtttacagtctt	11	14	6	10	0	3	1	1	0	2	1	4	2	4	1	3	1	2	1	3	1	5	6			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr18:29225320T>C	ENST00000306851.5	-	4	765	c.469A>G	c.(469-471)Aag>Gag	p.K157E	B4GALT6_ENST00000383131.3_Missense_Mutation_p.K157E|B4GALT6_ENST00000237019.7_Missense_Mutation_p.K118E	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	157					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.K157E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TACCTCACCTTCCATCTGGGT	0.378																																						uc002kwz.4																			1	Substitution - Missense(1)	p.K157E(2)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.(469-471)Aag>Gag		Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.							96	97	97					18																	29225320		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29225320T>C	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.469A>G	18.37:g.29225320T>C	ENSP00000306459:p.Lys157Glu					B4GALT6_uc010dma.3_Missense_Mutation_p.K118E|B4GALT6_uc010dmb.3_Missense_Mutation_p.K157E	p.K157E	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		3	766	-			157					O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.469A>G	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697175	0.68386	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.38560	1.91;1.91;1.13	5.81	4.65	0.58169	.	0.073085	0.56097	N	0.000030	T	0.67144	0.2862	M	0.88640	2.97	0.30358	N	0.784116	B;D;D	0.69078	0.019;0.997;0.997	B;D;D	0.72075	0.14;0.961;0.976	T	0.71781	-0.4489	10	0.72032	D	0.01	-21.0878	10.8356	0.46685	0.0:0.075:0.0:0.925	.	157;118;157	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	E	157;118;157	ENSP00000306459:K157E;ENSP00000237019:K118E;ENSP00000372613:K157E	ENSP00000237019:K118E	K	-	1	0	B4GALT6	27479318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.101000	0.76997	1.018000	0.39521	0.533000	0.62120	AAG		0.378	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		C	29225320	T	C	29225320	3	2	29	1	0	0	0	0	1	0	0	0	1275	1792	62	4	703	4	B4GALT6	18	29225320	Missense_Mutation	SNP	T	TCGA-06-0165-01A-01D-1491-08		29225320	48851928	8	1868											
TNFRSF25	8718	broad.mit.edu	37	chr1	6522120	6522120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcgcctcctgggtctCggggtagccaggggtccagc	5	6	17	13	2	1	1	0	0	1	1	4	1	3	1	4	5	3	2	4	5	1	1	rs367817707		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:6522120C>A	ENST00000356876.3	-	9	946	c.859G>T	c.(859-861)Gag>Tag	p.E287*	TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351959.5_Nonsense_Mutation_p.E250*|TNFRSF25_ENST00000348333.3_Nonsense_Mutation_p.E242*|TNFRSF25_ENST00000377782.3_Nonsense_Mutation_p.E296*|TNFRSF25_ENST00000351748.3_Nonsense_Mutation_p.E104*	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	287					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGGTCTCGGGGTAGCCA	0.627																																						uc001anh.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10						c.(886-888)Gag>Tag		Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.							102	98	100					1																	6522120		2203	4300	6503	SO:0001587	stop_gained	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6522120C>A	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.859G>T	1.37:g.6522120C>A	ENSP00000349341:p.Glu287*					TNFRSF25_uc001ana.3_Nonsense_Mutation_p.E104*|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Nonsense_Mutation_p.E60*|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Nonsense_Mutation_p.E287*|TNFRSF25_uc001anf.3_Nonsense_Mutation_p.E250*|TNFRSF25_uc001ang.3_Nonsense_Mutation_p.E242*	p.E296*	NM_148965	NP_683866	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	8	974	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	287					B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Nonsense_Mutation	SNP	ENST00000356876.3	37	c.886G>T	CCDS71.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269621	0.40095	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	.	.	.	4.59	2.68	0.31781	.	19.499500	0.00166	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.7193	11.3932	0.49825	0.0:0.3583:0.6417:0.0	.	.	.	.	X	287;296;250;104;242	.	ENSP00000314451:E242X	E	-	1	0	TNFRSF25	6444707	0.013000	0.17824	0.018000	0.16275	0.052000	0.14988	1.336000	0.33850	0.454000	0.26884	-0.850000	0.03035	GAG		0.627	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		A	6522120	C	A	6522120	4	1	30	1	0	0	0	0	0	1	0	0	16293	893	31	5	402	5	TNFRSF25	1	6522120	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		6522120	242728501	1	1869											
LPHN2	23266	broad.mit.edu	37	chr1	82456163	82456163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctactcgctgcacaaGggtgactataatgacagcgt	13	8	10	10	2	0	2	0	2	0	0	1	2	0	2	0	1	5	3	0	1	5	3	rs372665040		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:82456163G>C	ENST00000370728.1	+	25	4359	c.3714G>C	c.(3712-3714)aaG>aaC	p.K1238N	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.K1253N|LPHN2_ENST00000319517.6_Missense_Mutation_p.K1182N|LPHN2_ENST00000370727.1_Missense_Mutation_p.K1210N|LPHN2_ENST00000370730.1_Missense_Mutation_p.K1195N|LPHN2_ENST00000370723.1_Missense_Mutation_p.K1240N|LPHN2_ENST00000359929.3_Missense_Mutation_p.K1182N|LPHN2_ENST00000370721.1_Missense_Mutation_p.K1163N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.K1210N|LPHN2_ENST00000394879.1_Missense_Mutation_p.K1240N|LPHN2_ENST00000335786.5_Missense_Mutation_p.K1195N|LPHN2_ENST00000370725.1_Missense_Mutation_p.K1253N|LPHN2_ENST00000370715.1_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1238					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTGCACAAGGGTGACTATA	0.413																																						uc001dit.4																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3544-3546)aaG>aaC		Homo sapiens latrophilin 2 (LPHN2), mRNA.		G	ASN/LYS	0,4406		0,0,2203	128	122	124		3546	-0.3	1	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPHN2	NM_012302.2	94	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	1182/1404	82456163	1,13005	2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456163G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3714G>C	1.37:g.82456163G>C	ENSP00000359763:p.Lys1238Asn					LPHN2_uc001dis.3_Missense_Mutation_p.K162N|LPHN2_uc001diu.3_Missense_Mutation_p.K1182N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.K809N	p.K1182N	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	20	3727	+			1238					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3546G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	1.708|1.708|1.708	-0.499859|-0.499859|-0.499859	0.04291|0.04291|0.04291	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	.|T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.68903|.	.|-0.33;-0.35;-0.36;-0.3;-0.3;-0.25;-0.32;-0.32;-0.3;-0.25;-0.3;-0.36|.	5.53|5.53|5.53	-0.289|-0.289|-0.289	0.12851|0.12851|0.12851	.|.|.	.|0.113073|.	.|0.56097|.	.|D|.	.|0.000029|.	T|T|T	0.03305|0.03305|0.03305	0.0096|0.0096|0.0096	N|N|N	0.03608|0.03608|0.03608	-0.345|-0.345|-0.345	0.31616|0.31616|0.31616	N|N|N	0.650832|0.650832|0.650832	.|B;B|.	.|0.02656|.	.|0.0;0.0|.	.|B;B|.	.|0.04013|.	.|0.0;0.001|.	T|T|T	0.35674|0.35674|0.35674	-0.9779|-0.9779|-0.9779	5|10|5	.|0.23302|.	.|T|.	.|0.38|.	.|.|.	0.221|0.221|0.221	0.00168|0.00168|0.00168	0.2359:0.1968:0.252:0.3153|0.2359:0.1968:0.252:0.3153|0.2359:0.1968:0.252:0.3153	.|.|.	.|1182;162|.	.|O95490-2;B3KVU1|.	.|.;.|.	R|N|T	250|1163;1238;1195;1210;1253;1240;1182;1182;1253;1240;1210;1195|1130	.|ENSP00000359756:K1163N;ENSP00000359763:K1238N;ENSP00000359765:K1195N;ENSP00000359762:K1210N;ENSP00000359760:K1253N;ENSP00000359758:K1240N;ENSP00000353006:K1182N;ENSP00000322270:K1182N;ENSP00000359752:K1253N;ENSP00000378344:K1240N;ENSP00000271029:K1210N;ENSP00000337306:K1195N|.	.|ENSP00000271029:K1210N|.	G|K|R	+|+|+	1|3|2	0|2|0	LPHN2|LPHN2|LPHN2	82228751|82228751|82228751	0.970000|0.970000|0.970000	0.33590|0.33590|0.33590	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.487000|0.487000|0.487000	0.33371|0.33371|0.33371	0.093000|0.093000|0.093000	0.15086|0.15086|0.15086	0.297000|0.297000|0.297000	0.22615|0.22615|0.22615	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|AAG|AGG		0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		C	82456163	G	C	82456163	3	2	30	1	0	0	0	0	1	0	0	0	8916	991	35	5	3620	5	LPHN2	1	82456163	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	75934043	82456163	166794458	2	1870											
PEX19	5824	broad.mit.edu	37	chr1	160254853	160254853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggctcttactttccagaAgctcctccaattccctgtcc	7	13	6	15	0	1	1	0	0	1	1	6	1	6	1	5	1	2	2	5	1	3	3			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:160254853A>G	ENST00000368072.5	-	1	83	c.62T>C	c.(61-63)cTt>cCt	p.L21P	PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	21	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTTCCAGAAGCTCCTCCAA	0.597																																						uc001fvs.2																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(61-63)cTt>cCt		Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.							84	81	82					1																	160254853		2203	4300	6503	SO:0001583	missense	5824					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160254853A>G	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.62T>C	1.37:g.160254853A>G	ENSP00000357051:p.Leu21Pro					DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.L21P|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	p.L21P	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN			0	89	-			0					D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.62T>C	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424801	0.83667	.	.	ENSG00000162735	ENST00000368072	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000012	T	0.55768	0.1941	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.60796	-0.7192	9	0.52906	T	0.07	-10.3102	12.3348	0.55060	1.0:0.0:0.0:0.0	.	21	P40855	PEX19_HUMAN	P	21	.	ENSP00000357051:L21P	L	-	2	0	PEX19	158521477	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.209000	0.58493	2.095000	0.63458	0.528000	0.53228	CTT		0.597	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		G	160254853	A	G	160254853	3	3	30	1	0	0	0	0	1	0	0	0	11744	72	3	4	869	4	PEX19	1	160254853	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	77798690	160254853	88995768	3	1871											
ARID4B	51742	broad.mit.edu	37	chr1	235345301	235345301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagttctacactgggtgaaCaactctcctcttcagccaca	10	11	6	14	0	4	1	1	1	3	0	5	1	4	1	2	1	4	1	2	1	4	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:235345301C>T	ENST00000264183.3	-	20	3430	c.2933G>A	c.(2932-2934)tGt>tAt	p.C978Y	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.C892Y|ARID4B_ENST00000366603.2_Missense_Mutation_p.C978Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	978					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTGGGTGAACAACTCTCCTC	0.493																																						uc021pks.1																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2932-2934)tGt>tAt		Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.							117	121	120					1																	235345301		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345301C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2933G>A	1.37:g.235345301C>T	ENSP00000264183:p.Cys978Tyr					ARID4B_uc001hwq.3_Missense_Mutation_p.C978Y|ARID4B_uc001hwr.3_Missense_Mutation_p.C892Y|ARID4B_uc001hws.4_Missense_Mutation_p.C892Y|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.C659Y	p.C978Y	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		19	3310	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	978					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2933G>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.507|3.507	-0.100514|-0.100514	0.06967|0.06967	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.22336|.	1.96;1.99;1.99|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.591073|.	0.16994|.	N|.	0.191196|.	T|T	0.44052|0.44052	0.1275|0.1275	N|N	0.19112|0.19112	0.55|0.55	0.35060|0.35060	D|D	0.761484|0.761484	P;P;D;P|.	0.61080|.	0.904;0.904;0.989;0.845|.	B;B;B;B|.	0.43990|.	0.179;0.342;0.438;0.185|.	T|T	0.52230|0.52230	-0.8603|-0.8603	10|5	0.11794|.	T|.	0.64|.	-2.0459|-2.0459	12.6752|12.6752	0.56891|0.56891	0.0:0.6965:0.3035:0.0|0.0:0.6965:0.3035:0.0	.|.	659;978;892;978|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	Y|I	978;892;978;978|378	ENSP00000264184:C892Y;ENSP00000355562:C978Y;ENSP00000264183:C978Y|.	ENSP00000264183:C978Y|.	C|V	-|-	2|1	0|0	ARID4B|ARID4B	233411924|233411924	0.293000|0.293000	0.24371|0.24371	0.934000|0.934000	0.37439|0.37439	0.012000|0.012000	0.07955|0.07955	2.017000|2.017000	0.40981|0.40981	2.567000|2.567000	0.86603|0.86603	0.585000|0.585000	0.79938|0.79938	TGT|GTT		0.493	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235345301	C	T	235345301	3	4	30	1	0	0	0	0	1	0	0	0	920	478	17	3	1025	3	ARID4B	1	235345301	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	75090448	235345301	13905320	4	1872											
OR6F1	343169	broad.mit.edu	37	chr1	247875180	247875180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctcttacttccttattaCgaagcgtatagatgaagggg	10	14	9	8	2	2	2	0	1	2	1	4	3	3	2	1	2	3	1	1	2	7	6	rs372005274		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:247875180C>T	ENST00000302084.2	-	1	925	c.878G>A	c.(877-879)cGt>cAt	p.R293H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293L(1)|p.R293H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCCTTATTACGAAGCGTATA	0.438																																						uc001idj.1																			2	Substitution - Missense(2)	p.R293L(2)|p.R293H(2)	lung(2)	breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(877-879)cGt>cAt		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	123	123		878	1.5	0	1		123	0,8600		0,0,4300	no	missense	OR6F1	NM_001005286.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	293/309	247875180	1,13005	2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875180C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.878G>A	1.37:g.247875180C>T	ENSP00000305640:p.Arg293His						p.R293H	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	878	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		293					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.878G>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515575	0.27123	2.27E-4	0.0	ENSG00000169214	ENST00000302084	T	0.41065	1.01	3.49	1.54	0.23209	.	0.174240	0.25349	N	0.031304	T	0.48995	0.1531	M	0.93420	3.415	0.09310	N	1	B	0.20671	0.047	B	0.14023	0.01	T	0.52779	-0.8530	10	0.72032	D	0.01	-8.9544	6.9123	0.24342	0.1716:0.7308:0.0:0.0976	.	293	Q8NGZ6	OR6F1_HUMAN	H	293	ENSP00000305640:R293H	ENSP00000305640:R293H	R	-	2	0	OR6F1	245941803	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.804000	0.27098	0.268000	0.21939	0.591000	0.81541	CGT		0.438	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		T	247875180	C	T	247875180	3	4	30	1	0	0	0	0	1	0	0	0	11201	536	19	1	52	1	OR6F1	1	247875180	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12529879	247875180	1375441	5	1873											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44023908	44023908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagacacttcgatttgttGcacattattatggagcatca	12	13	8	8	1	1	1	1	0	0	1	2	3	1	2	0	1	2	4	0	1	3	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:44023908G>A	ENST00000260605.8	+	8	728	c.628G>A	c.(628-630)Gca>Aca	p.A210T	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.A84T|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.A211T	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCGATTTGTTGCACATTATTA	0.343																																						uc002rtl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(631-633)Gca>Aca		Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.							167	153	158					2																	44023908		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44023908G>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.628G>A	2.37:g.44023908G>A	ENSP00000260605:p.Ala210Thr					DYNC2LI1_uc002rtk.3_Missense_Mutation_p.A210T|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.A84T|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.A84T	p.A211T	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN			7	731	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	210					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.631G>A	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061523	0.76187	.	.	ENSG00000138036	ENST00000260605;ENST00000443170	T;T	0.18502	2.21;2.21	5.13	4.19	0.49359	.	0.154990	0.56097	D	0.000035	T	0.38108	0.1028	M	0.87758	2.905	0.53688	D	0.999972	D;D;D	0.56287	0.975;0.958;0.975	P;P;P	0.54372	0.75;0.567;0.75	T	0.37407	-0.9707	10	0.56958	D	0.05	-19.6508	13.1029	0.59231	0.0:0.0:0.7793:0.2207	.	211;210;210	Q8TCX1-2;Q8TCX1;Q8TCX1-3	.;DC2L1_HUMAN;.	T	210;84	ENSP00000260605:A210T;ENSP00000388941:A84T	ENSP00000260605:A210T	A	+	1	0	DYNC2LI1	43877412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.699000	0.54778	2.662000	0.90505	0.650000	0.86243	GCA		0.343	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		A	44023908	G	A	44023908	3	1	30	1	0	0	0	0	1	0	0	0	4847	1319	46	3	757	3	DYNC2LI1	2	44023908	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		44023908	199175465	6	1874											
ZRANB3	84083	broad.mit.edu	37	chr2	135960424	135960424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgacagactgtgcagAgagtctgcaggttgtccagg	8	11	14	8	0	1	3	0	1	1	2	2	4	2	3	1	2	2	3	1	2	0	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:135960424A>G	ENST00000264159.6	-	20	3235	c.3119T>C	c.(3118-3120)cTc>cCc	p.L1040P	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.L1038P|ZRANB3_ENST00000401392.1_Missense_Mutation_p.L1038P	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1040	Endonuclease activity.|HNH.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGCAGAGAGTCTGCAG	0.478																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(3118-3120)cTc>cCc		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							81	80	80					2																	135960424		2000	4180	6180	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135960424A>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3119T>C	2.37:g.135960424A>G	ENSP00000264159:p.Leu1040Pro					ZRANB3_uc002tuk.3_Missense_Mutation_p.L583P|ZRANB3_uc002tul.3_Missense_Mutation_p.L1038P	p.L1040P	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	3236	-			1040					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.3119T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620243	0.87460	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.97328	-4.34;-4.34;-4.32	5.47	5.47	0.80525	HNH nuclease (1);HNH endonuclease (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99123	1.0850	10	0.87932	D	0	-17.2381	15.5387	0.76024	1.0:0.0:0.0:0.0	.	1040;1038	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	P	503;503;1038;1040;1038	ENSP00000383979:L1038P;ENSP00000264159:L1040P;ENSP00000441320:L1038P	ENSP00000264159:L1040P	L	-	2	0	ZRANB3	135676894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.063000	0.61619	0.460000	0.39030	CTC		0.478	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		G	135960424	A	G	135960424	3	3	30	1	0	0	0	0	1	0	0	0	18221	304	11	4	128	4	ZRANB3	2	135960424	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	91936516	135960424	107238949	7	1875											
NUP210	23225	broad.mit.edu	37	chr3	13379344	13379344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtcccctcacctgggtgCccgtcctcatccgcatgatg	5	9	11	16	2	2	1	2	1	0	0	5	2	5	1	6	2	1	1	6	2	0	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:13379344C>T	ENST00000254508.5	-	26	3627	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1182					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACCTGGGTGCCCGTCCTCAT	0.627																																						uc003bxv.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3544-3546)gGc>gAc		Homo sapiens nucleoporin 210kDa (NUP210), mRNA.							36	34	34					3																	13379344		2201	4300	6501	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13379344C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3545G>A	3.37:g.13379344C>T	ENSP00000254508:p.Gly1182Asp						p.G1182D	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			25	3628	-	all_neural(104;0.187)		1182					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3545G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695975	0.30052	.	.	ENSG00000132182	ENST00000254508	T	0.19250	2.16	4.86	3.98	0.46160	.	0.136998	0.47852	D	0.000201	T	0.39436	0.1078	M	0.67397	2.05	0.53688	D	0.999978	D	0.71674	0.998	D	0.65443	0.935	T	0.12344	-1.0551	10	0.40728	T	0.16	-19.6151	10.8821	0.46944	0.0:0.9098:0.0:0.0902	.	1182	Q8TEM1	PO210_HUMAN	D	1182	ENSP00000254508:G1182D	ENSP00000254508:G1182D	G	-	2	0	NUP210	13354344	0.945000	0.32115	0.774000	0.31636	0.017000	0.09413	3.579000	0.53900	1.166000	0.42689	0.655000	0.94253	GGC		0.627	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		T	13379344	C	T	13379344	3	4	30	1	0	0	0	0	1	0	0	0	10760	739	26	3	2178	3	NUP210	3	13379344	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		13379344	184643086	8	1876											
XCR1	2829	broad.mit.edu	37	chr3	46063343	46063343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtataggacagtggtggCgagggtagcaaagacccagg	12	5	17	7	1	0	1	0	0	0	1	0	3	0	2	1	5	1	4	1	5	4	3	rs140218706		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:46063343C>T	ENST00000309285.3	-	2	453	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	XCR1_ENST00000542109.1_Missense_Mutation_p.A33T	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	33					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGTGGTGGCGAGGGTAGCA	0.567																																						uc003cpe.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(97-99)Gcc>Acc		Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA	0,4406		0,0,2203	104	100	102		97,97	-5.3	0	3	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	XCR1	NM_001024644.1,NM_005283.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	33/334,33/334	46063343	1,13005	2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063343C>T		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.97G>A	3.37:g.46063343C>T	ENSP00000310405:p.Ala33Thr					AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.A33T|XCR1_uc021wwx.1_Missense_Mutation_p.A33T	p.A33T	NM_005283	NP_005274	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	321	-			33						Missense_Mutation	SNP	ENST00000309285.3	37	c.97G>A	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	1.726	-0.495405	0.04291	0.0	1.16E-4	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.37584	1.19;1.19	5.03	-5.27	0.02763	.	1.580970	0.03170	N	0.170630	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.14420	-1.0473	10	0.59425	D	0.04	.	1.1447	0.01772	0.4247:0.1473:0.1295:0.2985	.	33	P46094	XCR1_HUMAN	T	33	ENSP00000310405:A33T;ENSP00000438119:A33T	ENSP00000310405:A33T	A	-	1	0	XCR1	46038347	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.002000	0.13061	-0.746000	0.04766	-1.128000	0.01989	GCC		0.567	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			T	46063343	C	T	46063343	3	4	30	1	0	0	0	0	1	0	0	0	17422	768	27	1	908	1	XCR1	3	46063343	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	32683999	46063343	151959087	9	1877											
CP	1356	broad.mit.edu	37	chr3	148895735	148895735	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacgtgcattgtgaggccTtgtaggtttccaaacattct	8	13	9	11	1	1	1	0	1	1	0	2	1	2	1	3	2	2	3	3	2	2	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:148895735T>G	ENST00000264613.6	-	17	3172	c.2910A>C	c.(2908-2910)caA>caC	p.Q970H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	970	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGTGAGGCCTTGTAGGTTTC	0.378																																						uc003ewy.4																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2908-2910)caA>caC		Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	Drotrecogin alfa(DB00055)						212	182	192					3																	148895735		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895735T>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2910A>C	3.37:g.148895735T>G	ENSP00000264613:p.Gln970His					CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.Q122H|CP_uc003ewx.4_Missense_Mutation_p.Q751H|CP_uc003ewz.3_Missense_Mutation_p.Q970H	p.Q970H	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3163	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	970			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2910A>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915383	0.33815	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99769	-6.7;-6.7;-6.7	5.78	-9.16	0.00694	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.795533	0.12204	N	0.490014	D	0.96078	0.8722	N	0.02391	-0.57	0.23893	N	0.996548	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.004;0.002;0.001	D	0.95059	0.8194	10	0.27785	T	0.31	-0.4884	5.7222	0.17992	0.6053:0.0634:0.1138:0.2174	.	970;970;970;683	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	H	105;970;753	ENSP00000420367:Q105H;ENSP00000264613:Q970H;ENSP00000420545:Q753H	ENSP00000264613:Q970H	Q	-	3	2	CP	150378425	0.063000	0.20901	0.030000	0.17652	0.939000	0.58152	-0.515000	0.06290	-0.912000	0.03837	0.455000	0.32223	CAA		0.378	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		G	148895735	T	G	148895735	3	3	30	1	0	0	0	0	1	0	0	0	3787	1606	56	5	299	5	CP	3	148895735	Missense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08	102832392	148895735	49126695	10	1878											
MECOM	2122	broad.mit.edu	37	chr3	169099085	169099085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatattcctagtcctgcccCaggcatatttgactctcgaa	9	12	6	14	1	1	1	0	1	1	0	4	2	3	1	5	1	1	1	5	1	4	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:169099085C>A	ENST00000494292.1	-	2	362	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	89					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTCCTGCCCCAGGCATATTT	0.473																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(265-267)Ggg>Tgg		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							123	115	117					3																	169099085		1853	4104	5957	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:169099085C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.265G>T	3.37:g.169099085C>A	ENSP00000417899:p.Gly89Trp					MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	p.G89W	NM_004991	NP_004982	Q13465	MDS1_HUMAN			1	668	-			89					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	37	c.265G>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.612977	0.87258	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T;T	0.56444	0.46;0.46	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000013	T	0.75302	0.3831	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77437	-0.2588	10	0.87932	D	0	.	19.7763	0.96395	0.0:1.0:0.0:0.0	.	89;89	Q13465;Q03112-3	MDS1_HUMAN;.	W	89;113	ENSP00000417899:G89W;ENSP00000419537:G113W	ENSP00000419537:G113W	G	-	1	0	MECOM	170581779	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.678000	0.54627	2.684000	0.91462	0.650000	0.86243	GGG		0.473	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		A	169099085	C	A	169099085	3	1	30	1	0	0	0	0	1	0	0	0	9422	594	21	5	3528	5	MECOM	3	169099085	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	20203350	169099085	28923345	11	1879											
PIK3CA	5290	broad.mit.edu	37	chr3	178916641	178916661	+	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG	-																															cacgaccatcatcaggtgaaCtgtggggcatccacttgatg																										TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	ENST00000263967.3	+	2	185_205	c.28_48delCTGTGGGGCATCCACTTGATG	c.(28-48)ctgtggggcatccacttgatgdel	p.LWGIHLM10del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	10					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G12D(2)|p.W11L(2)|p.I13_R19del(1)|p.E9_R19del(1)|p.L15_V22>PM(1)|p.L10_M16del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA	0.394		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		8	Substitution - Missense(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.G12D(4)|p.W11L(3)|p.I13_R19del(2)|p.E9_R19del(2)|p.L15_V22>PM(2)|p.L10_M16del(2)	lung(3)|endometrium(2)|central_nervous_system(2)|large_intestine(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(28-48)ctgtggggcatccacttgatgdel		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.28_48delCTGTGGGGCATCCACTTGATG	3.37:g.178916641_178916661delCTGTGGGGCATCCACTTGATG	ENSP00000263967:p.Leu10_Met16del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LWGIHLM10del	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	185_205	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		10					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.28_48delCTGTGGGGCATCCACTTGATG	CCDS43171.1																																																																																				0.394	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			-	178916661	CTGTGGGGCATCCACTTGATG	-	178916641	7	5	30	1	0	1	0	1	0	0	0	0	11913	564	20	0	30	0	PIK3CA	3	178916641	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	TCGA-06-0166-01A-01D-1491-08	9817556	178916641	19105789	12	1880											
LIMCH1	22998	broad.mit.edu	37	chr4	41652554	41652554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtgcacgggtctccactgGagctgaaacaagacaacggt	12	6	13	10	2	1	2	0	1	1	1	2	4	1	3	1	3	4	2	1	3	3	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:41652554G>A	ENST00000313860.7	+	13	1864	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	LIMCH1_ENST00000511496.1_Missense_Mutation_p.E445K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E445K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E592K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E438K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E604K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E989K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E604K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E438K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E433K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E450K|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E604K	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	604					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTCTCCACTGGAGCTGAAACA	0.527																																						uc003gvz.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(2965-2967)Gag>Aag		Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.							92	81	85					4																	41652554		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41652554G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1810G>A	4.37:g.41652554G>A	ENSP00000316891:p.Glu604Lys					LIMCH1_uc003gwe.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvu.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvv.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvw.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvx.4_Missense_Mutation_p.E592K|LIMCH1_uc003gvy.4_Missense_Mutation_p.E433K|LIMCH1_uc003gwa.4_Missense_Mutation_p.E445K|LIMCH1_uc011byu.2_Missense_Mutation_p.E438K|LIMCH1_uc003gwc.4_Missense_Mutation_p.E450K|LIMCH1_uc003gwd.4_Missense_Mutation_p.E438K|LIMCH1_uc011byv.2_Missense_Mutation_p.E355K	p.E989K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			17	3382	+			604					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2965G>A	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.95|13.95	2.390941|2.390941	0.42410|0.42410	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.47177|.	0.85;1.47;1.45;1.47;0.86;1.44;0.86;0.88;0.86;0.88;0.86;0.86|.	5.1|5.1	4.24|4.24	0.50183|0.50183	.|.	0.438852|.	0.25578|.	N|.	0.029720|.	T|.	0.63034|.	0.2477|.	L|L	0.49350|0.49350	1.555|1.555	0.37217|0.37217	D|D	0.905052|0.905052	B;B;B;B;B;P;B;P;P;P;B|.	0.45902|.	0.194;0.042;0.194;0.156;0.156;0.868;0.294;0.619;0.485;0.619;0.154|.	B;B;B;B;B;P;B;B;B;B;B|.	0.48952|.	0.097;0.034;0.15;0.138;0.138;0.596;0.209;0.392;0.146;0.281;0.075|.	T|.	0.66662|.	-0.5867|.	10|.	0.66056|.	D|.	0.02|.	-15.3137|-15.3137	15.6535|15.6535	0.77115|0.77115	0.0:0.1422:0.8577:0.0|0.0:0.1422:0.8577:0.0	.|.	355;438;604;438;450;989;433;592;604;604;604|.	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	K|X	433;604;604;604;604;592;989;445;988;445;438;450;438|438	ENSP00000425222:E433K;ENSP00000424825:E604K;ENSP00000424645:E604K;ENSP00000316891:E604K;ENSP00000427045:E604K;ENSP00000424437:E592K;ENSP00000425631:E989K;ENSP00000421242:E445K;ENSP00000426334:E445K;ENSP00000422864:E438K;ENSP00000379840:E450K;ENSP00000371172:E438K|.	ENSP00000316891:E604K|.	E|W	+|+	1|3	0|0	LIMCH1|LIMCH1	41347311|41347311	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.325000|0.325000	0.28411|0.28411	4.473000|4.473000	0.60196|0.60196	1.483000|1.483000	0.48342|0.48342	0.650000|0.650000	0.86243|0.86243	GAG|TGG		0.527	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		A	41652554	G	A	41652554	3	1	30	1	0	0	0	0	1	0	0	0	8797	1175	41	3	1888	3	LIMCH1	4	41652554	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		41652554	149501722	13	1881											
NPY2R	4887	broad.mit.edu	37	chr4	156135822	156135822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacactcgcatttggaGtaaattgaagaaccatgtca	13	12	7	9	1	1	2	1	1	0	1	3	3	2	3	2	1	2	2	2	1	5	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:156135822G>C	ENST00000329476.3	+	2	1220	c.731G>C	c.(730-732)aGt>aCt	p.S244T	NPY2R_ENST00000506608.1_Missense_Mutation_p.S244T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CGCATTTGGAGTAAATTGAAG	0.433																																						uc003ioq.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(730-732)aGt>aCt		Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.							98	100	100					4																	156135822		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135822G>C	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.731G>C	4.37:g.156135822G>C	ENSP00000332591:p.Ser244Thr					NPY2R_uc003ior.3_Missense_Mutation_p.S244T|NPY2R_uc021xtm.1_Missense_Mutation_p.S244T	p.S244T	NM_000910	NP_000901	P49146	NPY2R_HUMAN			1	1220	+	all_hematologic(180;0.24)	Renal(120;0.0854)	244					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.731G>C	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	0.740	-0.776809	0.02929	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.37584	1.19;1.19	5.8	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.713472	0.14758	N	0.300142	T	0.17831	0.0428	N	0.11560	0.145	0.26370	N	0.976905	B	0.06786	0.001	B	0.09377	0.004	T	0.24512	-1.0158	10	0.22706	T	0.39	.	7.229	0.26033	0.1636:0.3798:0.4566:0.0	.	244	P49146	NPY2R_HUMAN	T	244	ENSP00000332591:S244T;ENSP00000426366:S244T	ENSP00000332591:S244T	S	+	2	0	NPY2R	156355272	0.203000	0.23435	0.981000	0.43875	0.328000	0.28507	0.382000	0.20635	0.300000	0.22699	-0.366000	0.07423	AGT		0.433	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		C	156135822	G	C	156135822	3	2	30	1	0	0	0	0	1	0	0	0	10609	1029	36	5	733	5	NPY2R	4	156135822	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	114483268	156135822	35018454	14	1882											
FTMT	94033	broad.mit.edu	37	chr5	121187974	121187974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacttctcccgggatgacGtggccttgaacaacttctcc	8	12	8	13	2	2	2	0	2	2	0	4	3	2	3	3	2	3	0	3	2	3	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:121187974G>A	ENST00000321339.1	+	1	325	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	106	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592																																						uc003kss.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(316-318)Gtg>Atg		Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.							81	66	71					5																	121187974		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187974G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.316G>A	5.37:g.121187974G>A	ENSP00000313691:p.Val106Met						p.V106M	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	0	325	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	106			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.316G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321363	0.60634	.	.	ENSG00000181867	ENST00000321339	T	0.71341	-0.56	3.57	3.57	0.40892	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.162290	0.39146	N	0.001448	D	0.84110	0.5400	M	0.85630	2.765	0.42701	D	0.993617	D	0.89917	1.0	D	0.79784	0.993	D	0.87037	0.2138	10	0.72032	D	0.01	.	13.4949	0.61419	0.0:0.0:1.0:0.0	.	106	Q8N4E7	FTMT_HUMAN	M	106	ENSP00000313691:V106M	ENSP00000313691:V106M	V	+	1	0	FTMT	121215873	1.000000	0.71417	0.966000	0.40874	0.965000	0.64279	4.125000	0.57931	2.294000	0.77228	0.655000	0.94253	GTG		0.592	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121187974	G	A	121187974	3	1	30	1	0	0	0	0	1	0	0	0	6085	1145	40	1	318	1	FTMT	5	121187974	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		121187974	59727286	15	1883											
FCHSD1	89848	broad.mit.edu	37	chr5	141029038	141029038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcggtcagacgcctggagtCgggtttggcccccagccacg	6	7	14	14	4	1	1	1	0	0	1	3	2	1	2	4	4	1	1	4	4	0	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:141029038C>T	ENST00000435817.2	-	5	349	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FCHSD1_ENST00000522126.1_Missense_Mutation_p.R24Q|FCHSD1_ENST00000519800.1_Missense_Mutation_p.R98Q|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R98Q|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	100									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGGAGTCGGGTTTGGCC	0.637																																						uc003llk.3																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(298-300)cGa>cAa		Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.							68	81	77					5																	141029038		2124	4258	6382	SO:0001583	missense	89848							g.chr5:141029038C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.299G>A	5.37:g.141029038C>T	ENSP00000399259:p.Arg100Gln					FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	p.R100Q	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	350	-			100					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.299G>A	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.252357	0.80135	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.18960	2.18;2.44;2.18;2.18	5.19	5.19	0.71726	Fps/Fes/Fer/CIP4 homology (1);	0.000000	0.64402	D	0.000005	T	0.43389	0.1245	M	0.63843	1.955	0.41888	D	0.990359	D	0.89917	1.0	D	0.71184	0.972	T	0.31779	-0.9931	10	0.56958	D	0.05	-11.2894	15.428	0.75069	0.0:1.0:0.0:0.0	.	100	Q86WN1	FCSD1_HUMAN	Q	100;24;98;98	ENSP00000399259:R100Q;ENSP00000427796:R24Q;ENSP00000428677:R98Q;ENSP00000428776:R98Q	ENSP00000399259:R100Q	R	-	2	0	FCHSD1	141009222	0.997000	0.39634	1.000000	0.80357	0.630000	0.37929	2.761000	0.47589	2.412000	0.81896	0.556000	0.70494	CGA		0.637	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		T	141029038	C	T	141029038	3	4	30	1	0	0	0	0	1	0	0	0	5789	884	31	2	1837	2	FCHSD1	5	141029038	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	19841064	141029038	39886222	16	1884											
PCLO	27445	broad.mit.edu	37	chr7	82595090	82595090	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaaatttaacttactgtTttttctttcccaggttccac	10	18	4	9	0	1	0	0	0	1	0	3	0	3	0	2	1	2	3	2	1	4	9			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:82595090T>A	ENST00000333891.9	-	4	4351	c.4014A>T	c.(4012-4014)aaA>aaT	p.K1338N	PCLO_ENST00000423517.2_Missense_Mutation_p.K1338N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACTTACTGTTTTTTCTTTCC	0.338																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4012-4014)aaA>aaT		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							190	166	174					7																	82595090		1872	4098	5970	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595090T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4014A>T	7.37:g.82595090T>A	ENSP00000334319:p.Lys1338Asn					PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	p.K1338N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	4303	-			1270						Missense_Mutation	SNP	ENST00000333891.9	37	c.4014A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247709	0.39697	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	6.03	3.71	0.42584	.	.	.	.	.	T	0.17195	0.0413	L	0.59436	1.845	0.80722	D	1	B;B	0.20550	0.046;0.046	B;B	0.22601	0.04;0.04	T	0.04165	-1.0972	9	0.87932	D	0	.	6.1659	0.20390	0.1331:0.1178:0.0:0.7492	.	1338;1338	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1338	ENSP00000334319:K1338N;ENSP00000388393:K1338N	ENSP00000334319:K1338N	K	-	3	2	PCLO	82433026	0.981000	0.34729	0.997000	0.53966	0.970000	0.65996	1.002000	0.29796	0.554000	0.29061	0.533000	0.62120	AAA		0.338	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82595090	T	A	82595090	3	1	30	1	0	0	0	0	1	0	0	0	11583	1838	64	5	11519	5	PCLO	7	82595090	Missense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08		82595090	76543573	17	1885											
DYNC1I1	1780	broad.mit.edu	37	chr7	95457400	95457400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacacagacccctcagtgCtccagctgcagtcagactca	10	6	10	15	0	3	2	3	0	0	2	4	3	4	3	3	1	3	3	3	1	0	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:95457400C>T	ENST00000324972.6	+	5	590	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.L116F|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.L116F	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCCTCAGTGCTCCAGCTGCA	0.443																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(397-399)Ctc>Ttc		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							298	293	295					7																	95457400		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95457400C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.397C>T	7.37:g.95457400C>T	ENSP00000320130:p.Leu133Phe					DYNC1I1_uc003uod.4_Missense_Mutation_p.L116F|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Intron|DYNC1I1_uc010lfl.3_Missense_Mutation_p.L122F	p.L133F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	674	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		133					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.397C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842197	0.71488	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000518089;ENST00000457059	T;T;T	0.75589	-0.68;-0.95;-0.68	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.80144	0.4569	L	0.40543	1.245	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.993	D;D;D	0.66847	0.923;0.947;0.943	T	0.80144	-0.1505	10	0.46703	T	0.11	.	16.134	0.81465	0.0:1.0:0.0:0.0	.	116;116;133	Q7Z6M0;O14576-2;O14576	.;.;DC1I1_HUMAN	F	116;133;116;116	ENSP00000392337:L116F;ENSP00000320130:L133F;ENSP00000412444:L116F	ENSP00000320130:L133F	L	+	1	0	DYNC1I1	95295336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.739000	0.68622	2.558000	0.86282	0.655000	0.94253	CTC		0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95457400	C	T	95457400	3	4	30	1	0	0	0	0	1	0	0	0	4842	797	28	3	411	3	DYNC1I1	7	95457400	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12862310	95457400	63681263	18	1886											
AP3M2	10947	broad.mit.edu	37	chr8	42024775	42024776	+	Frame_Shift_Ins	INS	-	-	GT																															taacggtgggacccaagcagINSacgatggggaagaccattga																										TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:42024775_42024776insGT	ENST00000518421.1	+	8	1188_1189	c.897_898insGT	c.(898-900)acgfs	p.T300fs	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Frame_Shift_Ins_p.T300fs|AP3M2_ENST00000396926.3_Frame_Shift_Ins_p.T300fs	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	300	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GACCCAAGCAGACGATGGGGAA	0.515																																						uc003xop.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(895-900)cagacgfs		Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42024775_42024776insGT	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	Exception_encountered	8.37:g.42024775_42024776insGT	ENSP00000428787:p.Thr300fs					AP3M2_uc003xoo.3_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.3_Intron	p.Q299fs	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	1188_1189	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	299			MHD.		B2RCR0|D3DSY2|Q7Z472	Frame_Shift_Ins	INS	ENST00000518421.1	37	c.897_898insGT	CCDS6125.1																																																																																				0.515	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			GT	42024776	-	GT	42024775	7	5	30	1	0	1	1	0	0	0	0	0	748	933	33	0	919	0	AP3M2	8	42024775	Frame_Shift_Ins	INS	-	TCGA-06-0166-01A-01D-1491-08		42024775	104339247	19	1887											
ST18	9705	broad.mit.edu	37	chr8	53073986	53073986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttgtatgagagggcGtttaccgaaaacttgggcat	10	12	12	7	2	0	1	0	1	0	1	0	3	0	1	1	2	2	4	1	2	4	5	rs2303460	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:53073986G>A	ENST00000276480.7	-	14	2226	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	515			R -> C (in dbSNP:rs2303460).		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGAGAGGGCGTTTACCGAAA	0.433													G|||	4	0.000798722	8e-04	0	5008	,	,		19387	0.003		0	False		,,,				2504	0					uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1543-1545)Cgc>Tgc		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	211	204	206		1543	3.7	1	8	dbSNP_100	206	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ST18	NM_014682.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	515/1048	53073986	3,13003	2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073986G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1543C>T	8.37:g.53073986G>A	ENSP00000276480:p.Arg515Cys					ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	p.R515C	NM_014682	NP_055497	O60284	ST18_HUMAN			8	1699	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	515		R -> C (in dbSNP:rs2303460).			Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1543C>T	CCDS6149.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	15.03	2.711782	0.48517	2.27E-4	2.33E-4	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.61158	0.13;0.13	5.46	3.67	0.42095	Myelin transcription factor 1 (1);	0.271866	0.44097	N	0.000489	T	0.51092	0.1654	L	0.52823	1.66	0.48185	D	0.999605	B;B	0.17268	0.021;0.001	B;B	0.10450	0.005;0.003	T	0.49476	-0.8936	10	0.56958	D	0.05	-2.7715	10.6129	0.45432	0.2086:0.0:0.7914:0.0	rs2303460;rs52795592;rs2303460	515;515	E5RHS3;O60284	.;ST18_HUMAN	C	515	ENSP00000276480:R515C;ENSP00000428521:R515C	ENSP00000276480:R515C	R	-	1	0	ST18	53236539	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	5.226000	0.65299	0.792000	0.33850	0.558000	0.71614	CGC		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53073986	G	A	53073986	3	1	30	1	0	0	0	0	1	0	0	0	15211	1145	40	1	1652	1	ST18	8	53073986	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	11049211	53073986	93290036	20	1888											
DCAF13	81034	broad.mit.edu	37	chr8	104427337	104427338	+	5'Flank	INS	-	-	G																															gccggagactctagtactgaINSgggggcaagaacggggcaca																										TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:104427337_104427338insG	ENST00000297578.4	-	0	0				DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Frame_Shift_Ins_p.EG40fs	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTAGTACTGAGGGGGCAAGAA	0.663																																						uc003yln.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(118-120)gagfs		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.																																				SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427337_104427338insG	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427342_104427342dupG	Exception_encountered					SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	p.E40fs	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			0	396_397	+			0					Q96JZ6|Q96SU7	Frame_Shift_Ins	INS	ENST00000297578.4	37	c.119_120insG	CCDS6300.1																																																																																				0.663	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		G	104427338	-	G	104427337	6	5	30	0	1	1	1	0	0	0	0	0	4266	304	11	0		0	DCAF13	8	104427337	5'Flank	INS	-	TCGA-06-0166-01A-01D-1491-08	51353351	104427337	41936685	21	1889											
ASAP1	50807	broad.mit.edu	37	chr8	131124496	131124496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctggcagtgccagcttgtCctggggggagatgctggagg	5	9	18	9	0	0	1	0	0	0	1	2	3	2	2	3	6	3	3	3	6	0	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:131124496C>G	ENST00000518721.1	-	24	2472	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	ASAP1_ENST00000357668.1_Missense_Mutation_p.D749H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	749					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGCTTGTCCTGGGGGGAG	0.542																																						uc003yta.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2245-2247)Gac>Cac		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							129	123	125					8																	131124496		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131124496C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2245G>C	8.37:g.131124496C>G	ENSP00000429900:p.Asp749His					ASAP1_uc003ysz.2_Missense_Mutation_p.D560H|ASAP1_uc011liw.2_Missense_Mutation_p.D742H	p.D749H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			23	2473	-			749					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2245G>C	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.669260|4.669260	0.88348|0.88348	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.06068|.	3.35;3.35|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.239813|.	0.47852|.	D|.	0.000214|.	T|T	0.58104|0.58104	0.2099|0.2099	L|L	0.28274|0.28274	0.84|0.84	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.989|.	P;P;D|.	0.63192|.	0.879;0.879;0.912|.	T|T	0.50171|0.50171	-0.8859|-0.8859	10|5	0.40728|.	T|.	0.16|.	.|.	19.4101|19.4101	0.94667|0.94667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	749;749;752|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	H|A	752;749;749|569;162	ENSP00000350297:D749H;ENSP00000429900:D749H|.	ENSP00000344591:D752H|.	D|G	-|-	1|2	0|0	ASAP1|ASAP1	131193678|131193678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.331000|7.331000	0.79192|0.79192	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.542	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		G	131124496	C	G	131124496	3	3	30	1	0	0	0	0	1	0	0	0	1010	855	30	5	1172	5	ASAP1	8	131124496	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	26697159	131124496	15239526	22	1890											
FAM75C1	441452	broad.mit.edu	37	chr9	90537612	90537612	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgacctcatgtcagcCagaaggagtaacatggggca	12	8	12	9	0	2	2	2	1	0	1	2	3	2	3	2	3	2	2	2	3	3	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:90537612C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATGTCAGCCAGAAGGAGTA	0.547																																						uc010mqi.3																			0											c.(2788-2790)gcC>gcT		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							3	5	4					9																	90537612		670	1538	2208			441452							g.chr9:90537612C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537612C>T						FAM75C1_uc004apq.4_Silent_p.A913A|DQ578031_uc022bjg.1_5'Flank	p.A930A	NM_001145124	NP_001138596					3	2819	+									Silent	SNP	ENST00000602681.1	37	c.2790C>T																																																																																					0.547	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		T	90537612	C	T	90537612	1	4	30	0	1	0	0	0	0	0	0	0	5623	581	21	3		3	FAM75C1	9	90537612	RNA	SNP	C	TCGA-06-0166-01A-01D-1491-08		90537612	50675819	23	1891											
ZNF618	114991	broad.mit.edu	37	chr9	116750662	116750662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagagccagtgccagccGaggcctcgctgagtgccgag	7	4	15	15	3	0	2	0	1	0	1	1	4	0	2	6	1	4	1	6	1	0	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:116750662G>A	ENST00000374126.5	+	3	238	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ZNF618_ENST00000288466.7_Missense_Mutation_p.E47K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGTGCCAGCCGAGGCCTCGCT	0.602																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(139-141)Gag>Aag		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							39	45	43					9																	116750662		2131	4231	6362	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116750662G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.139G>A	9.37:g.116750662G>A	ENSP00000363241:p.Glu47Lys					ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.3_Missense_Mutation_p.E47K|ZNF618_uc011lxi.2_Missense_Mutation_p.E47K|ZNF618_uc011lxj.2_Missense_Mutation_p.E47K	p.E47K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			2	238	+			47					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.139G>A		.	.	.	.	.	.	.	.	.	.	G	15.65	2.897036	0.52121	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.20738	4.24;2.57;2.05	5.07	5.07	0.68467	.	0.198697	0.35349	N	0.003270	T	0.13030	0.0316	N	0.19112	0.55	0.37616	D	0.921116	P;B;B;P;P	0.50710	0.458;0.226;0.396;0.531;0.938	B;B;B;B;B	0.39840	0.062;0.017;0.041;0.09;0.311	T	0.12192	-1.0557	10	0.29301	T	0.29	-29.0388	12.082	0.53675	0.0:0.1877:0.8123:0.0	.	47;47;47;47;47	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	K	47	ENSP00000288466:E47K;ENSP00000395400:E47K;ENSP00000363239:E47K	ENSP00000288466:E47K	E	+	1	0	ZNF618	115790483	1.000000	0.71417	0.978000	0.43139	0.748000	0.42578	4.029000	0.57253	2.356000	0.79943	0.462000	0.41574	GAG		0.602	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116750662	G	A	116750662	3	1	30	1	0	0	0	0	1	0	0	0	18039	1059	37	2	149	2	ZNF618	9	116750662	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	26213050	116750662	24462769	24	1892											
OR5C1	392391	broad.mit.edu	37	chr9	125551633	125551633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctatacaacagctatgtCgcagcgtctatgcctggcct	8	12	8	13	2	2	0	0	0	2	0	4	0	2	0	2	1	5	2	2	1	5	4	rs201245954		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:125551633C>T	ENST00000373680.2	+	1	484	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACAGCTATGTCGCAGCGTCTA	0.572													C|||	1	0.000199681	0	0	5008	,	,		21617	0.001		0	False		,,,				2504	0					uc011lzd.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(421-423)tCg>tTg		Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.							110	107	108					9																	125551633		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551633C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.422C>T	9.37:g.125551633C>T	ENSP00000362784:p.Ser141Leu						p.S141L	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			0	422	+			141					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.422C>T	CCDS35131.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.7	4.029499	0.75504	.	.	ENSG00000148215	ENST00000373680	T	0.41400	1.0	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	U	0.003535	T	0.64305	0.2586	M	0.86097	2.795	0.41529	D	0.988447	D	0.71674	0.998	P	0.60473	0.875	T	0.70178	-0.4943	10	0.87932	D	0	.	13.6467	0.62286	0.0:0.8445:0.1555:0.0	.	141	Q8NGR4	OR5C1_HUMAN	L	141	ENSP00000362784:S141L	ENSP00000362784:S141L	S	+	2	0	OR5C1	124591454	0.589000	0.26807	0.990000	0.47175	0.521000	0.34408	1.805000	0.38883	2.777000	0.95525	0.655000	0.94253	TCG		0.572	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			T	125551633	C	T	125551633	3	4	30	1	0	0	0	0	1	0	0	0	11153	893	31	2	424	2	OR5C1	9	125551633	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	8800971	125551633	15661798	25	1893											
BMI1	648	broad.mit.edu	37	chr10	22615862	22615862	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctggagaccagcaagtaTtgtcctatttgtgatgtcca	10	13	9	9	0	0	2	0	1	0	1	2	3	2	2	4	1	2	2	4	1	4	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:22615862T>G	ENST00000376663.3	+	3	661	c.156T>G	c.(154-156)taT>taG	p.Y52*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.Y195*	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	52					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCAGCAAGTATTGTCCTATTT	0.343																																						uc009xkg.3																			0											c.(583-585)taT>taG		Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.							170	178	175					10																	22615862		2203	4300	6503	SO:0001587	stop_gained	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22615862T>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.156T>G	10.37:g.22615862T>G	ENSP00000365851:p.Tyr52*					COMMD3-BMI1_uc001irh.3_Nonsense_Mutation_p.Y52*	p.Y195*	NM_001204062	NP_001190991	P35226	BMI1_HUMAN			6	620	+			52			Interaction with E4F1.		Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.585T>G	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249783	0.95305	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	.	.	.	5.67	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8496	7.6657	0.28430	0.0:0.2433:0.0:0.7567	.	.	.	.	X	52;36;52;52;52;52;29	.	ENSP00000365851:Y52X	Y	+	3	2	BMI1	22655868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.106000	0.31098	0.954000	0.37851	0.528000	0.53228	TAT		0.343	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		G	22615862	T	G	22615862	4	3	30	1	0	0	0	0	0	1	0	0	1455	1500	52	5	162	5	BMI1	10	22615862	Nonsense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08		22615862	112918885	26	1894											
C10orf71	118461	broad.mit.edu	37	chr10	50531485	50531485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacagctggaaccgtcccaGaaagcaaagctcccaagcac	15	3	8	15	1	0	1	0	0	0	1	2	2	2	2	3	1	5	4	3	1	4	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:50531485G>A	ENST00000374144.3	+	3	1183	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E299K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	299										endometrium(1)	1						AACCGTCCCAGAAAGCAAAGC	0.542																																						uc021pqb.1																			0				endometrium(1)	1						c.(895-897)Gaa>Aaa		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.							65	77	73					10																	50531485		2037	4202	6239	SO:0001583	missense	118461							g.chr10:50531485G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.895G>A	10.37:g.50531485G>A	ENSP00000363259:p.Glu299Lys					C10orf71_uc021pqa.1_Missense_Mutation_p.E298K|C10orf71_uc021pqc.1_Missense_Mutation_p.E299K	p.E299K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN			0	895	+			299					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.895G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031266	0.54790	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.19250	2.16;3.31	5.4	5.4	0.78164	.	0.122339	0.36555	N	0.002521	T	0.21267	0.0512	M	0.64997	1.995	0.34864	D	0.742874	P	0.41524	0.753	B	0.38056	0.264	T	0.25813	-1.0121	10	0.20046	T	0.44	.	12.1334	0.53957	0.1235:0.0:0.8765:0.0	.	299	Q711Q0-3	.	K	299	ENSP00000318713:E299K;ENSP00000363259:E299K	ENSP00000318713:E299K	E	+	1	0	C10orf71	50201491	0.034000	0.19679	0.934000	0.37439	0.399000	0.30720	1.468000	0.35332	2.530000	0.85305	0.561000	0.74099	GAA		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50531485	G	A	50531485	3	1	30	1	0	0	0	0	1	0	0	0	1614	943	33	3	897	3	C10orf71	10	50531485	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	27915623	50531485	85003262	27	1895											
PTEN	5728	broad.mit.edu	37	chr10	89711882	89711882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtccaccagggagtaaCtattcccagtcagaggcgct	9	10	10	12	1	2	1	1	0	1	1	4	2	4	2	3	2	1	2	3	2	2	4	rs397514559		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:89711882C>G	ENST00000371953.3	+	6	1857	c.500C>G	c.(499-501)aCt>aGt	p.T167S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	167	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		T -> P (in breast cancer; severely reduced protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.T167I(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.T167S(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGGGAGTAACTATTCCCAGT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		58	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - frameshift(4)|Unknown(4)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(37)|p.V166fs*17(6)|p.T167A(5)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.T167I(2)|p.V166fs*10(2)|p.Y27fs*1(2)|p.T167S(2)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.V166I(1)|p.V166L(1)|p.G165_K342del(1)|p.T167P(1)	prostate(16)|central_nervous_system(15)|skin(8)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(499-501)aCt>aGt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							112	116	115					10																	89711882		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711882C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.500C>G	10.37:g.89711882C>G	ENSP00000361021:p.Thr167Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T167S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1532	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	167		T -> P (in breast cancer; severely reduced protein phosphatase activity).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.500C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933374	0.92458	.	.	ENSG00000171862	ENST00000371953	D	0.98633	-5.04	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.045733	0.85682	D	0.000000	D	0.98773	0.9587	M	0.66297	2.02	0.80722	D	1	D	0.61080	0.989	P	0.59643	0.861	D	0.99035	1.0822	9	.	.	.	-1.2558	19.9308	0.97118	0.0:1.0:0.0:0.0	.	167	P60484	PTEN_HUMAN	S	167	ENSP00000361021:T167S	.	T	+	2	0	PTEN	89701862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	ACT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89711882	C	G	89711882	3	3	30	1	0	0	0	0	1	0	0	0	12738	565	20	5	522	5	PTEN	10	89711882	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	39180397	89711882	45822865	28	1896											
KNDC1	85442	broad.mit.edu	37	chr10	135012314	135012314	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaccccaggccccagcaAaccagccagagggggcctca	10	2	10	19	0	1	1	1	0	0	1	2	1	2	1	8	3	3	1	8	3	1	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:135012314A>C	ENST00000304613.3	+	14	2323	c.2302A>C	c.(2302-2304)Aac>Cac	p.N768H	KNDC1_ENST00000368572.2_Missense_Mutation_p.N768H|KNDC1_ENST00000368571.2_Missense_Mutation_p.N703H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	768	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCCCAGCAAACCAGCCAGA	0.731																																						uc001llz.1																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2302-2304)Aac>Cac		Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.							5	8	7					10																	135012314		2039	4121	6160	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012314A>C	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2302A>C	10.37:g.135012314A>C	ENSP00000304437:p.Asn768His					KNDC1_uc001lma.1_Missense_Mutation_p.N703H|KNDC1_uc001lmb.1_Missense_Mutation_p.N180H	p.N768H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	13	2303	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	768			Pro-rich.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2302A>C	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271713	0.23221	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17854	2.74;2.74;2.25	3.05	-0.296	0.12824	.	6.068490	0.00357	U	0.000025	T	0.22322	0.0538	L	0.36672	1.1	0.09310	N	1	D;B;B	0.59767	0.986;0.216;0.41	P;B;B	0.53861	0.736;0.128;0.095	T	0.08889	-1.0700	10	0.52906	T	0.07	-3.5356	3.1218	0.06393	0.3096:0.3311:0.3593:0.0	.	768;703;768	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	H	768;768;703	ENSP00000304437:N768H;ENSP00000357561:N768H;ENSP00000357560:N703H	ENSP00000304437:N768H	N	+	1	0	KNDC1	134862304	0.001000	0.12720	0.001000	0.08648	0.068000	0.16541	0.481000	0.22260	-0.078000	0.12730	0.255000	0.18592	AAC		0.731	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135012314	A	C	135012314	3	2	30	1	0	0	0	0	1	0	0	0	8426	14	1	5	2356	5	KNDC1	10	135012314	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	45300432	135012314	522433	29	1897											
MYOD1	4654	broad.mit.edu	37	chr11	17741852	17741852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccgcgccccctggcgccGcagccgccttctatgcgccg	3	5	12	21	8	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	1	2	rs143600911		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr11:17741852G>T	ENST00000250003.3	+	1	738	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	175					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCCTGGCGCCGCAGCCGCCTT	0.741																																						uc001mni.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						c.(523-525)Gca>Tca		Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.		G	SER/ALA	1,4385		0,1,2192	14	14	14		523	0.1	0.6	11	dbSNP_134	14	0,8564		0,0,4282	no	missense	MYOD1	NM_002478.4	99	0,1,6474	TT,TG,GG		0.0,0.0228,0.0077	benign	175/321	17741852	1,12949	2193	4282	6475	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741852G>T	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.523G>T	11.37:g.17741852G>T	ENSP00000250003:p.Ala175Ser						p.A175S	NM_002478	NP_002469	P15172	MYOD1_HUMAN			0	743	+			175					O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.523G>T	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.007974	0.19199	2.28E-4	0.0	ENSG00000129152	ENST00000250003	D	0.97303	-4.33	4.74	0.123	0.14709	Helix-loop-helix DNA-binding (1);	0.397169	0.21675	N	0.070817	D	0.88358	0.6415	N	0.12746	0.255	0.09310	N	1	B	0.20988	0.05	B	0.12837	0.008	T	0.78173	-0.2307	10	0.09338	T	0.73	-13.115	4.2241	0.10572	0.3244:0.0:0.5116:0.1641	.	175	P15172	MYOD1_HUMAN	S	175	ENSP00000250003:A175S	ENSP00000250003:A175S	A	+	1	0	MYOD1	17698428	0.000000	0.05858	0.636000	0.29352	0.737000	0.42083	0.022000	0.13511	0.154000	0.19237	0.561000	0.74099	GCA		0.741	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		T	17741852	G	T	17741852	3	4	30	1	0	0	0	0	1	0	0	0	10088	1087	38	5	525	5	MYOD1	11	17741852	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		17741852	117264664	30	1898											
TMEM132D	121256	broad.mit.edu	37	chr12	129558863	129558863	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatcccttcctgctcctCgaagggaacctgtttgtgtc	6	13	8	14	1	1	0	1	0	0	0	6	2	4	1	4	1	2	2	4	1	2	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:129558863C>A	ENST00000422113.2	-	9	3183	c.2857G>T	c.(2857-2859)Gag>Tag	p.E953*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E491*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	953					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E953*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458																																						uc009zyl.1																			1	Substitution - Nonsense(1)	p.E953*(2)|p.F952L(1)	ovary(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2857-2859)Gag>Tag		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							121	108	113					12																	129558863		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129558863C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2857G>T	12.37:g.129558863C>A	ENSP00000408581:p.Glu953*					TMEM132D_uc001uia.2_Nonsense_Mutation_p.E491*	p.E953*	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	3185	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	953					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.2857G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	43	9.955582	0.99304	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.3738	16.7565	0.85501	0.0:1.0:0.0:0.0	.	.	.	.	X	491;953	.	.	E	-	1	0	TMEM132D	128124816	0.324000	0.24652	0.009000	0.14445	0.945000	0.59286	1.066000	0.30604	2.002000	0.58637	0.411000	0.27672	GAG		0.458	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129558863	C	A	129558863	4	1	30	1	0	0	0	0	0	1	0	0	16044	893	31	5	446	5	TMEM132D	12	129558863	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		129558863	4293032	31	1899											
NALCN	259232	broad.mit.edu	37	chr13	101795440	101795440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatcttactttttggtcGatgtatttgttgtcctcaat	7	19	8	7	1	2	1	1	0	1	1	4	2	3	1	1	1	1	3	1	1	3	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I703I(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468																																						uc001vox.1																			2	Substitution - coding silent(2)	p.I703I(4)	large_intestine(1)|lung(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2107-2109)atC>atT		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							191	167	175					13																	101795440		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795440G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2109C>T	13.37:g.101795440G>A						NALCN_uc001voy.3_Silent_p.I418I	p.I703I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			16	2298	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		703					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.2109C>T	CCDS9498.1																																																																																				0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101795440	G	A	101795440	2	1	30	1	0	0	0	0	0	0	0	1	10148	1048	37	2		2	NALCN	13	101795440	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08		101795440	13374438	32	1900											
CDKL1	8814	broad.mit.edu	37	chr14	50862534	50862534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgtttctacatttgaaaAcaactccataggatccttct	11	14	4	12	0	2	1	0	1	2	0	4	2	4	2	3	1	3	1	3	1	5	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:50862534A>G	ENST00000216378.2	-	2	700	c.56T>C	c.(55-57)gTt>gCt	p.V19A	CDKL1_ENST00000356146.1_5'UTR|RP11-247L20.3_ENST00000556713.1_lincRNA|CDKL1_ENST00000395834.1_Missense_Mutation_p.V19A	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	18	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACATTTGAAAACAACTCCATA	0.398																																						uc010anu.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(622-624)gTt>gCt		Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.							85	89	88					14																	50862534		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50862534A>G	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.56T>C	14.37:g.50862534A>G	ENSP00000216378:p.Val19Ala					CDKL1_uc001wxz.3_Missense_Mutation_p.V19A	p.V208A	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			4	623	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		18			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37	c.623T>C		.	.	.	.	.	.	.	.	.	.	A	16.51	3.144237	0.57044	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.70631	-0.5;-0.5	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85478	0.5706	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.99;1.0	D	0.88370	0.2994	9	0.87932	D	0	.	13.2349	0.59965	1.0:0.0:0.0:0.0	.	208;18	Q00532-2;Q00532	.;CDKL1_HUMAN	A	19	ENSP00000379176:V19A;ENSP00000216378:V19A	ENSP00000216378:V19A	V	-	2	0	CDKL1	49932284	1.000000	0.71417	0.998000	0.56505	0.083000	0.17756	8.712000	0.91403	1.918000	0.55548	0.459000	0.35465	GTT		0.398	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			G	50862534	A	G	50862534	3	3	30	1	0	0	0	0	1	0	0	0	3153	43	2	4	1056	4	CDKL1	14	50862534	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08		50862534	56487006	33	1901											
KCNH5	27133	broad.mit.edu	37	chr14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attataaggaaccataatggCggtgtagaaggtaagaatta	17	10	11	3	1	0	2	0	0	0	2	0	3	0	3	1	4	1	2	1	4	9	6	rs200308580		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:63447847C>T	ENST00000322893.7	-	6	953	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_ENST00000394964.2_Missense_Mutation_p.A171T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A171T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A229T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	229					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A229T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383													C|||	1	0.000199681	0	0	5008	,	,		20121	0.001		0	False		,,,				2504	0					uc001xfx.3																			1	Substitution - Missense(1)	p.A229T(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(685-687)Gcc>Acc		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							76	76	76					14																	63447847		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447847C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.685G>A	14.37:g.63447847C>T	ENSP00000321427:p.Ala229Thr					KCNH5_uc001xfy.3_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.3_Missense_Mutation_p.A171T	p.A229T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	736	-			229					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.685G>A	CCDS9756.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.228534	0.95173	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;D;D;D	0.87578	0.691;0.923;0.923;0.998	D	0.99445	1.0939	10	0.66056	D	0.02	.	19.2302	0.93834	0.0:1.0:0.0:0.0	.	171;171;229;229	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	T	229;229;171;171	ENSP00000321427:A229T;ENSP00000395439:A229T;ENSP00000378419:A171T;ENSP00000378415:A171T	ENSP00000321427:A229T	A	-	1	0	KCNH5	62517600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.547000	0.85894	0.585000	0.79938	GCC		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63447847	C	T	63447847	3	4	30	1	0	0	0	0	1	0	0	0	8035	768	27	1	2339	1	KCNH5	14	63447847	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12585313	63447847	43901693	34	1902											
HERC2	8924	broad.mit.edu	37	chr15	28460793	28460793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagcgaggtggcagtgaAgggtgcgtgcccttccacga	7	7	16	11	3	0	1	0	1	0	0	1	3	1	1	2	3	4	2	2	3	1	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:28460793A>G	ENST00000261609.7	-	39	6292	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCAGTGAAGGGTGCGTGC	0.607																																						uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6184-6186)Ttc>Ctc		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							15	13	14					15																	28460793		2196	4285	6481	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28460793A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6184T>C	15.37:g.28460793A>G	ENSP00000261609:p.Phe2062Leu						p.F2062L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6290	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2062						Missense_Mutation	SNP	ENST00000261609.7	37	c.6184T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411349	0.42817	.	.	ENSG00000128731	ENST00000261609	T	0.36878	1.23	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.34824	0.19	T	0.04078	-1.0979	10	0.12766	T	0.61	.	13.573	0.61858	1.0:0.0:0.0:0.0	.	2062	O95714	HERC2_HUMAN	L	2062	ENSP00000261609:F2062L	ENSP00000261609:F2062L	F	-	1	0	HERC2	26134388	1.000000	0.71417	0.599000	0.28851	0.720000	0.41350	8.478000	0.90428	1.800000	0.52685	0.397000	0.26171	TTC		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28460793	A	G	28460793	3	3	30	1	0	0	0	0	1	0	0	0	7058	72	3	4	8540	4	HERC2	15	28460793	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08		28460793	74070599	35	1903											
FRMD5	84978	broad.mit.edu	37	chr15	44181021	44181021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacctctttctgacttaCgtataaatagaaagtctttc	12	15	4	10	1	4	2	1	1	3	1	5	2	4	2	1	0	1	1	1	0	6	6	rs373951833	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:44181021C>T	ENST00000417257.1	-	9	954	c.778G>A	c.(778-780)Gta>Ata	p.V260I	FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Missense_Mutation_p.V260I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	260	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTCTGACTTACGTATAAATAG	0.498																																						uc001ztl.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(778-780)Gta>Ata		Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.							116	106	109					15																	44181021		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44181021C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.778G>A	15.37:g.44181021C>T	ENSP00000403067:p.Val260Ile					FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.V26I	p.V260I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	8	955	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	260			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.778G>A	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240150	0.79912	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.82619	-1.63;-1.63;-1.63	5.17	5.17	0.71159	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.192064	0.44688	D	0.000421	T	0.77751	0.4177	L	0.49571	1.57	0.80722	D	1	B;B	0.32829	0.335;0.386	B;B	0.32465	0.062;0.146	T	0.73707	-0.3898	10	0.08179	T	0.78	.	17.4251	0.87525	0.0:1.0:0.0:0.0	.	245;260	Q7Z6J6-2;Q7Z6J6	.;FRMD5_HUMAN	I	260;260;226	ENSP00000403067:V260I;ENSP00000384142:V260I;ENSP00000399684:V226I	ENSP00000384142:V260I	V	-	1	0	FRMD5	41968313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.211000	0.77933	2.693000	0.91896	0.650000	0.86243	GTA		0.498	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		T	44181021	C	T	44181021	3	4	30	1	0	0	0	0	1	0	0	0	6053	536	19	1	958	1	FRMD5	15	44181021	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	15720228	44181021	58350371	36	1904											
SLTM	79811	broad.mit.edu	37	chr15	59186379	59186379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcatttctttcttagagGgatcaccttttacctgaaag	9	17	6	9	0	5	2	2	1	3	1	5	3	5	3	2	1	1	0	2	1	3	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59186379G>A	ENST00000380516.2	-	11	1478	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.P33L	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	464					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTTAGAGGGATCACCTTT	0.318																																						uc002afp.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1390-1392)cCc>cTc		Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.							77	72	74					15																	59186379		2188	4286	6474	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186379G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1391C>T	15.37:g.59186379G>A	ENSP00000369887:p.Pro464Leu					SLTM_uc002afn.3_Missense_Mutation_p.P33L|SLTM_uc002afo.3_Missense_Mutation_p.P446L|SLTM_uc002afq.3_Missense_Mutation_p.P33L|SLTM_uc010bgd.3_Missense_Mutation_p.P33L	p.P464L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			10	1479	-			464					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1391C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760470	0.69763	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D;T;T	0.88664	-2.41;-0.85;-0.85	5.46	4.54	0.55810	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.52532	D	0.000062	D	0.86781	0.6015	L	0.60904	1.88	0.80722	D	1	P;B	0.48294	0.908;0.069	B;B	0.40285	0.325;0.09	D	0.87621	0.2510	10	0.72032	D	0.01	.	14.376	0.66879	0.0715:0.0:0.9285:0.0	.	464;33	Q9NWH9;A8K5V8	SLTM_HUMAN;.	L	464;57;33;446	ENSP00000369887:P464L;ENSP00000411534:P57L;ENSP00000249736:P446L	ENSP00000249736:P446L	P	-	2	0	SLTM	56973671	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.054000	0.93866	1.292000	0.44672	-0.157000	0.13467	CCC		0.318	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		A	59186379	G	A	59186379	3	1	30	1	0	0	0	0	1	0	0	0	14754	1232	43	3	1757	3	SLTM	15	59186379	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	15005358	59186379	43345013	37	1905											
GCNT3	9245	broad.mit.edu	37	chr15	59911701	59911701	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtagatgataatgctcttCagtgcttagaagaataccta	14	12	9	6	0	2	4	1	1	1	3	2	4	2	4	1	1	3	3	1	1	7	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59911701C>T	ENST00000396065.1	+	3	1712	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.Q422*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	422					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATGCTCTTCAGTGCTTAGA	0.458																																						uc002age.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1264-1266)Cag>Tag		Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.							152	152	152					15																	59911701		2190	4290	6480	SO:0001587	stop_gained	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911701C>T	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1264C>T	15.37:g.59911701C>T	ENSP00000379377:p.Gln422*					GCNT3_uc002agd.3_Nonsense_Mutation_p.Q422*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q422*	p.Q422*	NM_004751	NP_004742	O95395	GCNT3_HUMAN			2	1713	+			422						Nonsense_Mutation	SNP	ENST00000396065.1	37	c.1264C>T	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	C	38	7.015997	0.98006	.	.	ENSG00000140297	ENST00000396065	.	.	.	5.22	5.22	0.72569	.	0.110652	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	13.8841	0.63698	0.0:0.7194:0.2806:0.0	.	.	.	.	X	422	.	ENSP00000379377:Q422X	Q	+	1	0	GCNT3	57698993	0.195000	0.23338	1.000000	0.80357	0.184000	0.23303	0.795000	0.26972	2.437000	0.82529	0.655000	0.94253	CAG		0.458	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		T	59911701	C	T	59911701	4	4	30	1	0	0	0	0	0	1	0	0	6302	827	29	3	1266	3	GCNT3	15	59911701	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	725322	59911701	42619691	38	1906											
RASGRF1	5923	broad.mit.edu	37	chr15	79320175	79320175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttttccggatgttctccGtctcacttacttcatcgtgc	4	17	8	12	3	3	0	2	0	2	0	7	1	4	1	2	2	2	2	2	2	1	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:79320175G>A	ENST00000419573.3	-	9	1563	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	RASGRF1_ENST00000558480.2_Missense_Mutation_p.T430M|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	430					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGTTCTCCGTCTCACTTAC	0.547																																						uc002beq.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1288-1290)aCg>aTg		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.							237	191	207					15																	79320175		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79320175G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1289C>T	15.37:g.79320175G>A	ENSP00000405963:p.Thr430Met					RASGRF1_uc002bep.3_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.4_Missense_Mutation_p.T430M	p.T430M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			8	1664	-			430					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1289C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351151	0.82132	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.67171	-0.25	4.09	4.09	0.47781	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.994;0.968;0.997	D	0.84074	0.0381	10	0.62326	D	0.03	.	13.9228	0.63942	0.0:0.0:1.0:0.0	.	430;430;430;430	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	M	430	ENSP00000405963:T430M	ENSP00000378224:T430M	T	-	2	0	RASGRF1	77107230	1.000000	0.71417	0.978000	0.43139	0.907000	0.53573	7.525000	0.81892	2.118000	0.64928	0.479000	0.44913	ACG		0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79320175	G	A	79320175	3	1	30	1	0	0	0	0	1	0	0	0	13072	1145	40	1	2612	1	RASGRF1	15	79320175	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	19408474	79320175	23211217	39	1907											
RPL3L	6123	broad.mit.edu	37	chr16	2002950	2002950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaagctccggagacctCgaggggtggccacgtagccc	7	7	14	13	3	1	2	0	1	1	1	3	4	2	2	4	4	2	2	4	4	2	2	rs199937754		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:2002950C>T	ENST00000268661.7	-	3	384	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGAGACCTCGAGGGGTGGC	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		17654	0		0	False		,,,				2504	0					uc002cnh.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(289-291)cGa>cAa		Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.							73	68	70					16																	2002950		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:2002950C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.290G>A	16.37:g.2002950C>T	ENSP00000268661:p.Arg97Gln					TCRBV20S1_uc021tak.1_Intron	p.R97Q	NM_005061	NP_005052	Q92901	RL3L_HUMAN			2	337	-			97						Missense_Mutation	SNP	ENST00000268661.7	37	c.290G>A	CCDS10450.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.92	2.379629	0.42207	.	.	ENSG00000140986	ENST00000268661	T	0.43294	0.95	5.28	5.28	0.74379	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.152783	0.43919	D	0.000520	T	0.29458	0.0734	L	0.45285	1.41	0.34102	D	0.661928	P	0.44260	0.83	B	0.30943	0.122	T	0.51663	-0.8677	10	0.46703	T	0.11	-21.2438	11.3279	0.49458	0.0:0.9073:0.0:0.0927	.	97	Q92901	RL3L_HUMAN	Q	97	ENSP00000268661:R97Q	ENSP00000268661:R97Q	R	-	2	0	RPL3L	1942951	0.994000	0.37717	0.579000	0.28588	0.605000	0.37080	3.720000	0.54933	2.479000	0.83701	0.609000	0.83330	CGA		0.607	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		T	2002950	C	T	2002950	3	4	30	1	0	0	0	0	1	0	0	0	13594	884	31	2	965	2	RPL3L	16	2002950	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		2002950	88351803	40	1908											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524503	10524503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccagatagaagtaaacGgaagatattaaaagccaaaa	22	6	8	5	1	0	3	0	0	0	3	1	4	1	4	2	1	2	1	2	1	11	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:10524503G>A	ENST00000396560.2	+	3	253	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGAAGTAAACGGAAGATATTA	0.348																																						uc002czw.3																			0				large_intestine(3)	3						c.(25-27)cGg>cAg		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.							65	63	64					16																	10524503		2197	4299	6496	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524503G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.26G>A	16.37:g.10524503G>A	ENSP00000379808:p.Arg9Gln					ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R9Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.R9Q	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			1	185	+			9					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.26G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617804	0.46736	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.25579	1.79;1.79	5.25	0.262	0.15597	.	0.325526	0.21983	N	0.066280	T	0.10895	0.0266	L	0.34521	1.04	0.09310	N	1	P;P	0.39352	0.626;0.669	B;B	0.24006	0.05;0.043	T	0.20009	-1.0288	10	0.30078	T	0.28	-0.1419	3.6453	0.08182	0.3596:0.1912:0.4492:0.0	.	9;9	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	9	ENSP00000379808:R9Q;ENSP00000348799:R9Q	ENSP00000322811:R9Q	R	+	2	0	ATF7IP2	10432004	0.651000	0.27340	0.767000	0.31495	0.969000	0.65631	0.333000	0.19768	0.179000	0.19938	0.467000	0.42956	CGG		0.348	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		A	10524503	G	A	10524503	3	1	30	1	0	0	0	0	1	0	0	0	1088	1116	39	2	28	2	ATF7IP2	16	10524503	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	8521553	10524503	79830250	41	1909											
ABCC1	4363	broad.mit.edu	37	chr16	16218658	16218658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcaggtggctggccgtGcggctggagtgtgtgggcaa	4	8	21	8	3	0	0	0	0	0	0	0	1	0	1	1	7	1	4	1	7	1	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:16218658G>A	ENST00000399410.3	+	25	3778	c.3603G>A	c.(3601-3603)gtG>gtA	p.V1201V	ABCC1_ENST00000349029.5_Silent_p.V1086V|ABCC1_ENST00000351154.5_Silent_p.V1142V|ABCC1_ENST00000399408.2_Silent_p.V1211V|ABCC1_ENST00000345148.5_Silent_p.V1201V|ABCC1_ENST00000346370.5_Silent_p.V1145V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1201	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGCTGGCCGTGCGGCTGGAGT	0.592																																						uc010bvi.3																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3601-3603)gtG>gtA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						78	87	84					16																	16218658		2165	4270	6435	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16218658G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3603G>A	16.37:g.16218658G>A						ABCC1_uc010bvj.3_Silent_p.V1142V|ABCC1_uc010bvk.3_Silent_p.V1145V|ABCC1_uc010bvl.3_Silent_p.V1201V|ABCC1_uc010bvm.3_Silent_p.V1086V|ABCC1_uc002del.4_Silent_p.V1095V|ABCC1_uc021tds.1_Intron|ABCC1_uc021tdt.1_Intron	p.V1201V	NM_004996	NP_004987	P33527	MRP1_HUMAN			24	3778	+			1201			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3603G>A	CCDS42122.1																																																																																				0.592	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16218658	G	A	16218658	2	1	30	1	0	0	0	0	0	0	0	1	49	1306	46	3		3	ABCC1	16	16218658	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08	5694155	16218658	74136095	42	1910											
CLEC3A	10143	broad.mit.edu	37	chr16	78064579	78064579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtttgttgacgtcaaCggaatcgctatctccttcct	8	13	9	11	3	2	1	1	1	1	0	5	2	3	2	2	2	1	4	2	2	4	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:78064579C>T	ENST00000575655.1	+	3	516	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CLEC3A_ENST00000299642.4_Silent_p.N154N|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTGACGTCAACGGAATCGCTA	0.527																																						uc002ffh.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(433-435)aaC>aaT		Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.							143	120	128					16																	78064579		2198	4300	6498	SO:0001819	synonymous_variant	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064579C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.435C>T	16.37:g.78064579C>T						CLEC3A_uc021tlr.1_Silent_p.N93N	p.N145N	NM_005752	NP_005743	O75596	CLC3A_HUMAN			2	516	+			145			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Silent	SNP	ENST00000575655.1	37	c.435C>T																																																																																					0.527	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		T	78064579	C	T	78064579	2	4	30	1	0	0	0	0	0	0	0	1	3510	535	19	1		1	CLEC3A	16	78064579	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08	61845921	78064579	12290174	43	1911											
MYH1	4619	broad.mit.edu	37	chr17	10415407	10415407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacctgctgcacagtttgaCctttggtgacatactcattg	8	15	8	10	0	1	2	1	2	0	0	1	2	1	2	2	1	4	3	2	1	2	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:10415407C>A	ENST00000226207.5	-	13	1344	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	417	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAGTTTGACCTTTGGTGAC	0.463																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1249-1251)gGt>gTt		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							346	303	318					17																	10415407		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415407C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1250G>T	17.37:g.10415407C>A	ENSP00000226207:p.Gly417Val					AK097500_uc002gml.1_Intron	p.G417V	NM_005963	NP_005954	P12882	MYH1_HUMAN			12	1344	-			417			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1250G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065331	0.55432	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87103	-2.21	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000494	D	0.94331	0.8178	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94269	0.7509	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	417	P12882	MYH1_HUMAN	V	417	ENSP00000226207:G417V	ENSP00000226207:G417V	G	-	2	0	MYH1	10356132	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.697000	0.84279	2.861000	0.98227	0.655000	0.94253	GGT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10415407	C	A	10415407	3	1	30	1	0	0	0	0	1	0	0	0	10029	507	18	5	4681	5	MYH1	17	10415407	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		10415407	70779803	44	1912											
MYO19	80179	broad.mit.edu	37	chr17	34864958	34864958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgctgttgatcactgataCcagccagtcaaacaacctgt	11	10	8	12	0	2	2	2	2	0	0	2	2	2	2	3	0	5	3	3	0	3	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:34864958C>T	ENST00000431794.3	-	14	1696	c.1174G>A	c.(1174-1176)Gta>Ata	p.V392I	MYO19_ENST00000268852.9_Missense_Mutation_p.V392I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	392	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCACTGATACCAGCCAGTCA	0.537																																						uc010wcy.2																			0		p.V392V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1174-1176)Gta>Ata		Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.							53	58	56					17																	34864958		2016	4192	6208	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34864958C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1174G>A	17.37:g.34864958C>T	ENSP00000409936:p.Val392Ile					MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.V392I|MYO19_uc010wcz.1_Non-coding_Transcript	p.V392I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	14	2166	-		Breast(25;0.00957)|Ovarian(249;0.17)	392			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1174G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237444	0.95240	.	.	ENSG00000141140	ENST00000415126;ENST00000431794;ENST00000268852	D;D	0.88664	-2.41;-2.41	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.38436	N	0.001699	D	0.94003	0.8079	M	0.65677	2.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.983;0.996	D	0.94163	0.7416	10	0.87932	D	0	.	18.5215	0.90954	0.0:1.0:0.0:0.0	.	392;392	Q96H55;Q96H55-4	MYO19_HUMAN;.	I	127;392;392	ENSP00000409936:V392I;ENSP00000268852:V392I	ENSP00000268852:V392I	V	-	1	0	MYO19	31939071	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.333000	0.65917	2.714000	0.92807	0.563000	0.77884	GTA		0.537	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		T	34864958	C	T	34864958	3	4	30	1	0	0	0	0	1	0	0	0	10067	507	18	3	1790	3	MYO19	17	34864958	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	24449551	34864958	46330252	45	1913											
MPP3	4356	broad.mit.edu	37	chr17	41898381	41898381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctcctggcaagggatggCccggtcctcccgagggttgt	4	8	15	14	3	0	0	0	0	0	0	3	2	3	1	5	5	0	2	5	5	1	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:41898381C>T	ENST00000398389.4	-	11	895	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	MPP3_ENST00000398393.1_Missense_Mutation_p.A269T	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	244	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAAGGGATGGCCCGGTCCTCC	0.677																																						uc002ieh.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(805-807)Gcc>Acc		Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.							24	28	27					17																	41898381		1972	4143	6115	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41898381C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.730G>A	17.37:g.41898381C>T	ENSP00000381425:p.Ala244Thr					MPP3_uc002iei.4_Missense_Mutation_p.A244T|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Missense_Mutation_p.A244T|MPP3_uc010wik.2_Missense_Mutation_p.A269T	p.A269T	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	8	1066	-		Breast(137;0.00394)	244			SH3.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.805G>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510073	0.85282	.	.	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.40756	1.02;1.02	4.57	4.57	0.56435	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.85130	0.997;0.971;0.971	T	0.40683	-0.9550	10	0.15499	T	0.54	.	17.567	0.87922	0.0:1.0:0.0:0.0	.	269;244;269	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	T	269;244;269	ENSP00000381430:A269T;ENSP00000381425:A244T	ENSP00000348885:A269T	A	-	1	0	MPP3	39253907	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.378000	0.81104	0.561000	0.74099	GCC		0.677	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		T	41898381	C	T	41898381	3	4	30	1	0	0	0	0	1	0	0	0	9735	739	26	3	1067	3	MPP3	17	41898381	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	7033423	41898381	39296829	46	1914											
SPIRE1	56907	broad.mit.edu	37	chr18	12496095	12496095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccgagggggaatatcacCattcacctaaaaggagacaa	17	6	9	9	1	2	1	2	0	0	1	2	4	2	2	3	3	1	0	3	3	6	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr18:12496095C>A	ENST00000409402.4	-	7	1246	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	SPIRE1_ENST00000410092.3_Missense_Mutation_p.G327C|SPIRE1_ENST00000383356.2_Missense_Mutation_p.G168C|SPIRE1_ENST00000453447.2_Missense_Mutation_p.G207C|SPIRE1_ENST00000464481.1_5'Flank|SPIRE1_ENST00000309836.5_Missense_Mutation_p.G130C	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGAATATCACCATTCACCTAA	0.358																																						uc002kre.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(979-981)Ggt>Tgt		Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.							98	97	97					18																	12496095		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12496095C>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.979G>T	18.37:g.12496095C>A	ENSP00000387266:p.Gly327Cys					SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.2_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.2_Missense_Mutation_p.G327C	p.G327C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			6	1026	-			327						Missense_Mutation	SNP	ENST00000409402.4	37	c.979G>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947867	0.92593	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.55413	0.53;1.13;1.1;0.55;0.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78250	-0.2277	10	0.87932	D	0	-10.9914	19.9598	0.97242	0.0:1.0:0.0:0.0	.	327;130;327	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	C	207;327;327;130;168	ENSP00000407050:G207C;ENSP00000387266:G327C;ENSP00000387226:G327C;ENSP00000309661:G130C;ENSP00000372847:G168C	ENSP00000309661:G130C	G	-	1	0	SPIRE1	12486095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.157000	0.77461	2.716000	0.92895	0.655000	0.94253	GGT		0.358	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		A	12496095	C	A	12496095	3	1	30	1	0	0	0	0	1	0	0	0	15070	594	21	5	1335	5	SPIRE1	18	12496095	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		12496095	65581153	47	1915											
ILF3	3609	broad.mit.edu	37	chr19	10798360	10798360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggggcgggggcggatccGactacaactacgagagcaaa	11	3	16	11	5	0	1	0	0	0	1	1	4	1	2	2	5	4	1	2	5	4	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:10798360G>A	ENST00000590261.1	+	17	2398	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	ILF3_ENST00000318511.3_Missense_Mutation_p.D800N|ILF3_ENST00000449870.1_Missense_Mutation_p.D804N|ILF3_ENST00000588657.1_Missense_Mutation_p.D804N|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	800	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCGGATCCGACTACAACTA	0.617																																						uc002mpn.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2398-2400)Gac>Aac		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.							33	39	37					19																	10798360		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10798360G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2398G>A	19.37:g.10798360G>A	ENSP00000468156:p.Asp800Asn					ILF3_uc002mpo.3_Missense_Mutation_p.D804N|ILF3_uc002mpq.3_Silent_p.P102P	p.D800N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		17	2715	+			800			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2398G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701678	0.68501	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.16597	2.33;2.33	5.15	4.12	0.48240	.	0.354533	0.29133	N	0.013053	T	0.11623	0.0283	N	0.19112	0.55	0.80722	D	1	B;B	0.17465	0.022;0.013	B;B	0.09377	0.004;0.002	T	0.06110	-1.0845	10	0.72032	D	0.01	.	10.8091	0.46535	0.0887:0.0:0.9113:0.0	.	804;800	G5E9M5;Q12906	.;ILF3_HUMAN	N	804;800	ENSP00000404121:D804N;ENSP00000315205:D800N	ENSP00000315205:D800N	D	+	1	0	ILF3	10659360	1.000000	0.71417	0.891000	0.34965	0.976000	0.68499	6.494000	0.73661	1.403000	0.46800	0.655000	0.94253	GAC		0.617	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			A	10798360	G	A	10798360	3	1	30	1	0	0	0	0	1	0	0	0	7712	1058	37	2	2548	2	ILF3	19	10798360	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		10798360	48330623	48	1916											
LDLR	3949	broad.mit.edu	37	chr19	11233883	11233883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggccacccaggagacatCcaccgtcaggctaaaggtca	12	5	11	13	1	2	1	2	0	0	1	3	2	3	1	4	4	0	1	4	4	2	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:11233883C>A	ENST00000558518.1	+	15	2361	c.2174C>A	c.(2173-2175)tCc>tAc	p.S725Y	LDLR_ENST00000557933.1_Missense_Mutation_p.S725Y|LDLR_ENST00000558013.1_Missense_Mutation_p.S725Y|LDLR_ENST00000535915.1_Missense_Mutation_p.S684Y|LDLR_ENST00000545707.1_Missense_Mutation_p.S547Y|LDLR_ENST00000455727.2_Missense_Mutation_p.S557Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	725	Clustered O-linked oligosaccharides.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CAGGAGACATCCACCGTCAGG	0.607																																					GBM(18;201 575 7820 21545)	uc002mqk.4																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2173-2175)tCc>tAc		Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						156	118	131					19																	11233883		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11233883C>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2174C>A	19.37:g.11233883C>A	ENSP00000454071:p.Ser725Tyr					LDLR_uc010xlk.2_Missense_Mutation_p.S725Y|LDLR_uc010xll.2_Missense_Mutation_p.S684Y|LDLR_uc021upc.1_Missense_Mutation_p.S604Y|LDLR_uc010xln.2_Missense_Mutation_p.S547Y|LDLR_uc010xlo.2_Missense_Mutation_p.S557Y|LDLR_uc010xlm.2_Missense_Mutation_p.S578Y|LDLR_uc021upd.1_Missense_Mutation_p.S462Y	p.S725Y	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	14	2361	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	725			Clustered O-linked oligosaccharides.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2174C>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647757	0.29336	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90676	-2.71;-2.67;-2.71	3.96	1.65	0.23941	Growth factor, receptor (1);	2.239590	0.02528	U	0.093294	D	0.92143	0.7509	M	0.73598	2.24	0.09310	N	0.999999	D;D;P;P;P;P	0.57571	0.966;0.98;0.744;0.62;0.744;0.62	B;P;B;B;B;B	0.50440	0.423;0.641;0.252;0.252;0.252;0.252	T	0.76391	-0.2976	10	0.72032	D	0.01	.	4.6732	0.12699	0.2105:0.663:0.0:0.1265	.	557;547;604;684;737;725	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	Y	725;547;684;557	ENSP00000437639:S547Y;ENSP00000440520:S684Y;ENSP00000397829:S557Y	ENSP00000252444:S725Y	S	+	2	0	LDLR	11094883	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	1.013000	0.29937	0.324000	0.23333	0.563000	0.77884	TCC		0.607	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11233883	C	A	11233883	3	1	30	1	0	0	0	0	1	0	0	0	8704	855	30	5	2232	5	LDLR	19	11233883	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	435523	11233883	47895100	49	1917											
FBL	2091	broad.mit.edu	37	chr19	40328442	40328442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaagttaatgaggtcacgGccagagcggtgggagaactc	11	6	15	9	2	1	3	1	1	0	2	2	4	1	3	2	4	2	1	2	4	3	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:40328442G>A	ENST00000221801.3	-	6	704	c.591C>T	c.(589-591)ggC>ggT	p.G197G	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	197					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TGAGGTCACGGCCAGAGCGGT	0.473																																						uc002omn.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(589-591)ggC>ggT		Homo sapiens fibrillarin (FBL), mRNA.							139	108	118					19																	40328442		2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40328442G>A	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.591C>T	19.37:g.40328442G>A						FBL_uc002omm.1_Silent_p.G111G|FBL_uc002omo.2_Silent_p.G196G	p.G197G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	5	705	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	197					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.591C>T	CCDS12545.1																																																																																				0.473	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		A	40328442	G	A	40328442	2	1	30	1	0	0	0	0	0	0	0	1	5696	1190	42	3		3	FBL	19	40328442	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08	29094559	40328442	18800541	50	1918											
ZNF180	7733	broad.mit.edu	37	chr19	44981674	44981674	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattatttctcatgttttGagtaagggaggaactatgag	13	14	11	3	0	1	3	1	2	1	1	2	5	1	5	0	2	1	2	0	2	5	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:44981674G>A	ENST00000221327.4	-	5	1305	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q315*|ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q317*|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCATGTTTTGAGTAAGGGAG	0.378																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1024-1026)Caa>Taa		Homo sapiens zinc finger protein 180 (ZNF180), mRNA.							72	76	74					19																	44981674		2203	4300	6503	SO:0001587	stop_gained	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981674G>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1024C>T	19.37:g.44981674G>A	ENSP00000221327:p.Gln342*					ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.4_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.3_Nonsense_Mutation_p.Q317*	p.Q342*	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			4	1306	-		Prostate(69;0.0435)	342					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Nonsense_Mutation	SNP	ENST00000221327.4	37	c.1024C>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042502	0.55003	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	.	.	.	4.76	1.31	0.21738	.	0.660669	0.12737	N	0.443354	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-1.6316	9.3363	0.38051	0.0:0.2846:0.57:0.1454	.	.	.	.	X	342;317	.	ENSP00000221327:Q342X	Q	-	1	0	ZNF180	49673514	0.000000	0.05858	0.015000	0.15790	0.206000	0.24218	-0.103000	0.10940	1.186000	0.42985	-0.176000	0.13171	CAA		0.378	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		A	44981674	G	A	44981674	4	1	30	1	0	0	0	0	0	1	0	0	17745	1299	45	3	1058	3	ZNF180	19	44981674	Nonsense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	4653232	44981674	14147309	51	1919											
FPR3	2359	broad.mit.edu	37	chr19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctacgtctttatgggtcGtaacttccaagaaagactga	11	13	8	9	2	2	3	0	1	2	2	5	3	3	3	1	1	2	1	1	1	5	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:52327921G>A	ENST00000339223.4	+	2	1099	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473																																						uc002pxt.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(919-921)cGt>cAt		Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.							130	125	127					19																	52327921		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327921G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.920G>A	19.37:g.52327921G>A	ENSP00000341821:p.Arg307His					FPR3_uc021uyq.1_Missense_Mutation_p.R307H	p.R307H	NM_002030	NP_002021	P25089	FPR3_HUMAN			1	1104	+			307						Missense_Mutation	SNP	ENST00000339223.4	37	c.920G>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613931	0.03690	.	.	ENSG00000187474	ENST00000339223	T	0.39592	1.07	2.34	-4.68	0.03309	.	0.818789	0.10312	N	0.689855	T	0.25158	0.0611	N	0.16266	0.395	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.15723	-1.0427	10	0.54805	T	0.06	.	12.3051	0.54898	0.2252:0.0:0.7748:0.0	.	307	P25089	FPR3_HUMAN	H	307	ENSP00000341821:R307H	ENSP00000341821:R307H	R	+	2	0	FPR3	57019733	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.232000	0.09055	-1.239000	0.02532	-1.842000	0.00583	CGT		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		A	52327921	G	A	52327921	3	1	30	1	0	0	0	0	1	0	0	0	6040	1145	40	1	922	1	FPR3	19	52327921	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	7346247	52327921	6801062	52	1920											
MMP24	10893	broad.mit.edu	37	chr20	33851598	33851598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactcctctccacagggaaCgacctcttcctggtggctgt	7	10	9	15	1	2	0	0	0	2	0	5	2	4	1	4	3	1	1	4	3	1	1	rs201850633		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr20:33851598C>T	ENST00000246186.6	+	5	907	c.822C>T	c.(820-822)aaC>aaT	p.N274N	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	274					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCACAGGGAACGACCTCTTCC	0.627													C|||	1	0.000199681	0	0	5008	,	,		19065	0		0.001	False		,,,				2504	0					uc002xbu.2																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(820-822)aaC>aaT		Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.							17	18	18					20																	33851598		2201	4298	6499	SO:0001819	synonymous_variant	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33851598C>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.822C>T	20.37:g.33851598C>T						EDEM2_uc010zuv.1_Intron	p.N274N	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	825	+			274					B7ZBG8|Q9H440	Silent	SNP	ENST00000246186.6	37	c.822C>T	CCDS46593.1																																																																																				0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		T	33851598	C	T	33851598	2	4	30	1	0	0	0	0	0	0	0	1	9661	535	19	1		1	MMP24	20	33851598	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08		33851598	29173922	53	1921											
BCOR	54880	broad.mit.edu	37	chrX	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagcatctggttcttctcGgagaaggtctacgtagacaa	10	13	10	8	2	4	2	0	0	4	2	5	3	4	2	0	3	2	3	0	3	5	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:39932171G>A	ENST00000378444.4	-	4	2656	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_ENST00000342274.4_Nonsense_Mutation_p.R810*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R810*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.R810*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	810					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTTCTCGGAGAAGGTCT	0.522			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2428-2430)Cga>Tga		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							119	115	116					X																	39932171		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932171G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2428C>T	X.37:g.39932171G>A	ENSP00000367705:p.Arg810*					BCOR_uc004dep.4_Nonsense_Mutation_p.R810*|BCOR_uc004deo.4_Nonsense_Mutation_p.R810*|BCOR_uc004dem.4_Nonsense_Mutation_p.R810*|BCOR_uc004deq.4_Nonsense_Mutation_p.R810*	p.R810*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	2720	-			810					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.2428C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	41	8.837567	0.98972	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1636	12.9687	0.58499	0.0:0.0:0.8392:0.1608	.	.	.	.	X	810;810;810;810;810;217	.	ENSP00000345923:R810X	R	-	1	2	BCOR	39817115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.795000	0.75140	2.442000	0.82660	0.513000	0.50165	CGA		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39932171	G	A	39932171	4	1	30	1	0	0	0	0	0	1	0	0	1386	1124	39	2	2887	2	BCOR	23	39932171	Nonsense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		39932171	115338389	54	1922											
OTUD5	55593	broad.mit.edu	37	chrX	48814319	48814319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgttgtagcctgcgcCgacctcctcacgctcgggac	5	9	10	17	4	2	0	2	0	0	0	4	2	3	1	4	1	2	3	4	1	1	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:48814319C>T	ENST00000156084.4	-	1	574	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	OTUD5_ENST00000428668.2_Intron|OTUD5_ENST00000376488.3_Missense_Mutation_p.G172S|RNU6-722P_ENST00000411377.1_RNA|OTUD5_ENST00000396743.3_Missense_Mutation_p.G172S|OTUD5_ENST00000484499.1_5'Flank	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	172	Gly-rich.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TAGCCTGCGCCGACCTCCTCA	0.687																																						uc004dlu.3																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(514-516)Ggc>Agc		Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.							30	17	22					X																	48814319		2199	4293	6492	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48814319C>T		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.514G>A	X.37:g.48814319C>T	ENSP00000156084:p.Gly172Ser					OTUD5_uc004dlt.4_Missense_Mutation_p.G172S|OTUD5_uc004dlv.3_Missense_Mutation_p.G172S|OTUD5_uc011mmp.2_Intron	p.G172S	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			0	575	-			172			Gly-rich.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.514G>A	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665907	0.67700	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	D;D;D	0.83755	-1.76;-1.76;-1.76	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000003	T	0.76456	0.3990	L	0.54323	1.7	0.38711	D	0.953213	P;P	0.52061	0.95;0.936	B;B	0.38020	0.191;0.263	T	0.80692	-0.1269	10	0.49607	T	0.09	-10.2617	11.6792	0.51448	0.0:1.0:0.0:0.0	.	172;172	Q96G74;G5E9D7	OTUD5_HUMAN;.	S	172;148;45;172;172	ENSP00000379969:G172S;ENSP00000156084:G172S;ENSP00000365671:G172S	ENSP00000156084:G172S	G	-	1	0	OTUD5	48699263	1.000000	0.71417	0.992000	0.48379	0.796000	0.44982	5.527000	0.67123	2.237000	0.73441	0.600000	0.82982	GGC		0.687	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		T	48814319	C	T	48814319	3	4	30	1	0	0	0	0	1	0	0	0	11315	652	23	2	1237	2	OTUD5	23	48814319	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	8882148	48814319	106456241	55	1923											
MED12	9968	broad.mit.edu	37	chrX	70349202	70349202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgctcctcctgcgaccGccacctgctggctgcctccc	4	8	8	21	3	0	0	0	0	0	0	4	1	4	0	8	1	3	3	8	1	1	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:70349202G>A	ENST00000374080.3	+	26	3646	c.3614G>A	c.(3613-3615)cGc>cAc	p.R1205H	MED12_ENST00000333646.6_Missense_Mutation_p.R1205H|MED12_ENST00000374102.1_Missense_Mutation_p.R1205H			Q93074	MED12_HUMAN	mediator complex subunit 12	1205					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCTGCGACCGCCACCTGCTG	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dyy.3				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3613-3615)cGc>cAc		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							51	54	53					X																	70349202		2102	4207	6309	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349202G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3614G>A	X.37:g.70349202G>A	ENSP00000363193:p.Arg1205His		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_uc011mpq.1_Missense_Mutation_p.R1205H|MED12_uc004dyz.3_Missense_Mutation_p.R1205H|MED12_uc004dza.3_Missense_Mutation_p.R1052H|MED12_uc010nla.3_5'Flank	p.R1205H	NM_005120	NP_005111	Q93074	MED12_HUMAN			25	3813	+	Renal(35;0.156)		1205					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3614G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.738882	0.89573	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.58583	1.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.60073	-0.7334	10	0.62326	D	0.03	-15.0158	17.7452	0.88419	0.0:0.0:1.0:0.0	.	1205;1052;1205;1205	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	H	1205;1205;1205;1205;1173	ENSP00000333125:R1205H;ENSP00000363215:R1205H;ENSP00000363193:R1205H;ENSP00000414203:R1173H	ENSP00000333125:R1205H	R	+	2	0	MED12	70265927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.894000	0.92506	2.465000	0.83290	0.529000	0.55759	CGC		0.582	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70349202	G	A	70349202	3	1	30	1	0	0	0	0	1	0	0	0	9428	1087	38	1	3716	1	MED12	23	70349202	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	21534883	70349202	84921358	56	1924											
NPNT	255743	broad.mit.edu	37	chr4	106888371	106888371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctgacagtgtcggcaGccaaagccccagggggaaaa	14	5	12	10	1	1	1	0	1	1	0	2	2	1	2	3	3	2	1	3	3	5	1	rs146652028		TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr4:106888371G>A	ENST00000379987.2	+	11	1588	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	NPNT_ENST00000514622.1_Missense_Mutation_p.A429T|NPNT_ENST00000305572.8_Missense_Mutation_p.A429T|NPNT_ENST00000427316.2_Missense_Mutation_p.A488T|NPNT_ENST00000453617.2_Missense_Mutation_p.A475T|NPNT_ENST00000506666.1_Missense_Mutation_p.A459T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	458	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.A458T(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGTGTCGGCAGCCAAAGCCCC	0.552																																						uc011cfd.2																			1	Substitution - Missense(1)	p.A458T(1)	skin(1)	kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1462-1464)Gcc>Acc		Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.							39	41	41					4																	106888371		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106888371G>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1372G>A	4.37:g.106888371G>A	ENSP00000369323:p.Ala458Thr					NPNT_uc011cfc.2_Missense_Mutation_p.A475T|NPNT_uc011cfe.2_Missense_Mutation_p.A459T|NPNT_uc003hya.3_Missense_Mutation_p.A458T|NPNT_uc011cff.2_Missense_Mutation_p.A429T	p.A488T	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	11	1675	+		Hepatocellular(203;0.217)	458			MAM.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.1462G>A	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964801	0.53507	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	T;T;T;T;T;T;T	0.01947	4.54;4.54;4.54;4.54;4.54;4.54;4.54	4.65	2.73	0.32206	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.234443	0.43260	D	0.000591	T	0.01489	0.0048	N	0.02916	-0.46	0.29088	N	0.882299	B;P;P;P;B;P	0.47484	0.002;0.801;0.896;0.896;0.001;0.822	B;B;P;P;B;P	0.47744	0.004;0.315;0.556;0.556;0.003;0.556	T	0.50759	-0.8790	10	0.31617	T	0.26	.	7.6705	0.28455	0.106:0.4094:0.4846:0.0	.	429;459;488;475;429;458	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9	.;.;.;.;.;NPNT_HUMAN	T	458;475;488;429;429;459;505	ENSP00000369323:A458T;ENSP00000402884:A475T;ENSP00000389252:A488T;ENSP00000422044:A429T;ENSP00000302557:A429T;ENSP00000422474:A459T;ENSP00000426146:A505T	ENSP00000302557:A429T	A	+	1	0	NPNT	107107820	0.790000	0.28787	0.826000	0.32828	0.551000	0.35334	1.440000	0.35024	1.079000	0.41038	0.650000	0.86243	GCC		0.552	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		A	106888371	G	A	106888371	3	1	31	1	0	0	0	0	1	0	0	0	10590	971	34	3	1563	3	NPNT	4	106888371	Missense_Mutation	SNP	G	TCGA-06-0167-01A-01D-1491-08		106888371	84265905	1	1925											
SEC24B	10427	broad.mit.edu	37	chr4	110437770	110437770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatatttgacaattttgtgCcagtcactcctagaaaatct	12	14	7	8	0	2	2	1	1	1	1	3	3	3	3	2	1	1	0	2	1	5	5			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr4:110437770C>T	ENST00000265175.5	+	11	2155	c.2100C>T	c.(2098-2100)tgC>tgT	p.C700C	SEC24B_ENST00000504968.2_Silent_p.C730C|SEC24B_ENST00000399100.2_Silent_p.C665C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	700					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318																																						uc003hzk.3																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2098-2100)tgC>tgT		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.							86	76	79					4																	110437770		1827	4095	5922	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110437770C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2100C>T	4.37:g.110437770C>T						SEC24B_uc003hzl.3_Silent_p.C665C|SEC24B_uc011cfp.2_Silent_p.C730C|SEC24B_uc011cfq.2_Silent_p.C699C|SEC24B_uc011cfr.2_Silent_p.C664C	p.C700C	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	10	2155	+		Hepatocellular(203;0.217)	700					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.2100C>T	CCDS47124.1																																																																																				0.318	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			T	110437770	C	T	110437770	2	4	31	1	0	0	0	0	0	0	0	1	13995	747	26	3		3	SEC24B	4	110437770	Silent	SNP	C	TCGA-06-0167-01A-01D-1491-08	3549399	110437770	80716506	2	1926											
C6orf203	51250	broad.mit.edu	37	chr6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaacagagacagttatgCggattctcttgaaaaaagtg	15	9	11	6	1	1	2	0	1	1	1	2	5	1	4	0	2	2	1	0	2	5	3			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr6:107372330C>T	ENST00000405204.2	+	4	1220	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	C6orf203_ENST00000443043.1_Missense_Mutation_p.R210W|C6orf203_ENST00000311381.5_Missense_Mutation_p.R205W	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	205						mitochondrion (GO:0005739)				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383																																						uc011eaj.2																			0				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(628-630)Cgg>Tgg		Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.							105	111	109					6																	107372330		2203	4300	6503	SO:0001583	missense	51250							g.chr6:107372330C>T	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.613C>T	6.37:g.107372330C>T	ENSP00000384867:p.Arg205Trp					C6orf203_uc003prq.3_Missense_Mutation_p.R205W|C6orf203_uc010kde.3_Missense_Mutation_p.R205W	p.R210W	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)	4	1303	+	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	205					B3KRG9	Missense_Mutation	SNP	ENST00000405204.2	37	c.628C>T	CCDS5058.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793326	0.70452	.	.	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	T;T;T	0.33216	1.42;1.42;1.42	5.93	1.67	0.24075	.	0.000000	0.64402	D	0.000001	T	0.44030	0.1274	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.72625	0.978	T	0.56697	-0.7936	10	0.87932	D	0	-9.6707	17.0298	0.86458	0.6997:0.3002:0.0:0.0	.	205	Q9P0P8	CF203_HUMAN	W	210;205;205	ENSP00000390153:R210W;ENSP00000384867:R205W;ENSP00000310951:R205W	ENSP00000310951:R205W	R	+	1	2	C6orf203	107479023	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.522000	0.22909	0.284000	0.22305	0.655000	0.94253	CGG		0.383	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487		T	107372330	C	T	107372330	3	4	31	1	0	0	0	0	1	0	0	0	2352	759	27	1	642	1	C6orf203	6	107372330	Missense_Mutation	SNP	C	TCGA-06-0167-01A-01D-1491-08		107372330	63742737	3	1927											
RTF1	23168	broad.mit.edu	37	chr15	41763442	41763442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcgggttcgattatcacgGcataagctagaacgctggtg	11	10	12	8	4	1	1	1	0	0	1	3	2	1	1	0	3	2	4	0	3	5	4			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458																																						uc001zny.3																			1	Substitution - coding silent(1)	p.R241R(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1096-1098)cgG>cgA		Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.							164	155	158					15																	41763442		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41763442G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1098G>A	15.37:g.41763442G>A							p.R366R	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	7	1110	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	366			Plus3.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1098G>A	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		A	41763442	G	A	41763442	2	1	31	1	0	0	0	0	0	0	0	1	13721	1190	42	3		3	RTF1	15	41763442	Silent	SNP	G	TCGA-06-0167-01A-01D-1491-08		41763442	60767950	4	1928											
MRPL10	124995	broad.mit.edu	37	chr17	45905957	45905957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcacagccatcagcttctgCcgctgaaagtgcatcacacg	10	8	9	14	2	4	1	3	1	1	0	4	1	4	1	2	0	4	3	2	0	1	1			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr17:45905957C>T	ENST00000351111.2	-	2	137	c.132G>A	c.(130-132)cgG>cgA	p.R44R	MRPL10_ENST00000414011.1_Silent_p.R54R|MRPL10_ENST00000290208.7_Silent_p.R54R	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	44					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TCAGCTTCTGCCGCTGAAAGT	0.597																																						uc002ily.3																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(160-162)cgG>cgA		Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							54	50	51					17																	45905957		2203	4300	6503	SO:0001819	synonymous_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905957C>T	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.132G>A	17.37:g.45905957C>T						MRPL10_uc002ilz.3_Silent_p.R44R|MRPL10_uc010wky.2_Silent_p.R5R	p.R54R	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN			2	260	-			44					A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	37	c.162G>A	CCDS11516.1																																																																																				0.597	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		T	45905957	C	T	45905957	2	4	31	1	0	0	0	0	0	0	0	1	9775	726	26	3		3	MRPL10	17	45905957	Silent	SNP	C	TCGA-06-0167-01A-01D-1491-08		45905957	35289253	5	1929											
MSL3	10943	broad.mit.edu	37	chrX	11790350	11790350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccctcttacatttatgggGcacaacatttgctgcgattg	9	13	8	11	1	1	0	0	0	1	0	1	1	1	0	1	2	4	2	1	2	3	5	rs140880282		TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chrX:11790350G>A	ENST00000312196.4	+	11	1462	c.1357G>A	c.(1357-1359)Gca>Aca	p.A453T	MSL3_ENST00000398527.2_Missense_Mutation_p.A441T|MSL3_ENST00000380693.3_Missense_Mutation_p.A287T|MSL3_ENST00000361672.2_Missense_Mutation_p.A304T	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	453	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CATTTATGGGGCACAACATTT	0.463																																						uc004cuw.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1357-1359)Gca>Aca		Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA,THR/ALA	0,3835		0,0,1632,571	109	98	102		1321,859,1357	3.4	1	X	dbSNP_134	102	1,6727		0,1,2427,1872	no	missense,missense,missense	MSL3	NM_001193270.1,NM_006800.3,NM_078629.3	58,58,58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	441/510,287/356,453/522	11790350	1,10562	2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790350G>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1357G>A	X.37:g.11790350G>A	ENSP00000312244:p.Ala453Thr					MSL3_uc011mig.2_Missense_Mutation_p.A304T|MSL3_uc011mih.2_Missense_Mutation_p.A441T|MSL3_uc004cuy.3_Missense_Mutation_p.A287T	p.A453T	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN			10	1462	+			453					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1357G>A	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852122	0.51270	0.0	1.49E-4	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.39	3.43	0.39272	.	0.224065	0.39341	N	0.001393	T	0.22742	0.0549	M	0.89968	3.075	0.49213	D	0.999768	B;B;B;P	0.36683	0.166;0.336;0.137;0.565	B;B;B;B	0.35550	0.094;0.104;0.057;0.205	T	0.04400	-1.0954	10	0.72032	D	0.01	.	9.6977	0.40167	0.0:0.0:0.3362:0.6638	.	441;304;394;453	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2	.;.;.;MS3L1_HUMAN	T	453;304;441;287	ENSP00000312244:A453T;ENSP00000354562:A304T;ENSP00000381538:A441T;ENSP00000370069:A287T	ENSP00000312244:A453T	A	+	1	0	MSL3	11700271	1.000000	0.71417	0.998000	0.56505	0.333000	0.28666	4.730000	0.62015	0.717000	0.32145	0.529000	0.55759	GCA		0.463	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		A	11790350	G	A	11790350	3	1	31	1	0	0	0	0	1	0	0	0	9879	1203	42	3	1479	3	MSL3	23	11790350	Missense_Mutation	SNP	G	TCGA-06-0167-01A-01D-1491-08		11790350	143480210	6	1930											
RBBP4	5928	broad.mit.edu	37	chr1	33134833	33134833	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttttttcactgaagtTgggatactcgttcaaacaat	10	18	7	6	1	2	1	2	1	0	0	3	2	2	2	0	1	2	3	0	1	4	7			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:33134833T>G	ENST00000373493.5	+	7	922	c.763T>G	c.(763-765)Tgg>Ggg	p.W255G	RBBP4_ENST00000458695.2_Splice_Site_p.W220G|RBBP4_ENST00000544435.1_Splice_Site_p.W3G|RBBP4_ENST00000373485.1_Splice_Site_p.W255G|RBBP4_ENST00000414241.3_Splice_Site_p.W254G	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	255					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCACTGAAGTTGGGATACTCG	0.353																																						uc001bvr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.e7-1		Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.							51	52	52					1																	33134833		2203	4300	6503	SO:0001630	splice_region_variant	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33134833T>G	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.762-1T>G	1.37:g.33134833T>G						RBBP4_uc001bvs.3_Splice_Site_p.I253_splice|RBBP4_uc010ohj.2_Splice_Site_p.I2_splice|RBBP4_uc010ohk.2_Splice_Site_p.I219_splice	p.I254_splice	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN			7	921	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	254					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.762_splice	CCDS366.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.57|19.57|19.57	3.852922|3.852922|3.852922	0.71719|0.71719|0.71719	.|.|.	.|.|.	ENSG00000162521|ENSG00000162521|ENSG00000162521	ENST00000463378|ENST00000475321|ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695	.|.|D;D;T;D;D	.|.|0.83506	.|.|-1.73;-1.73;-0.75;-1.73;-1.73	5.23|5.23|5.23	5.23|5.23|5.23	0.72850|0.72850|0.72850	.|.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.95484|0.95484|0.95484	0.8533|0.8533|0.8533	H|H|H	0.99847|0.99847|0.99847	4.84|4.84|4.84	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.69078	.|.|0.997;0.996	.|.|D;D	.|.|0.81914	.|.|0.992;0.995	D|D|D	0.97514|0.97514|0.97514	1.0068|1.0068|1.0068	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	14.6046|14.6046|14.6046	0.68469|0.68469|0.68469	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|254;255	.|.|Q09028-2;Q09028	.|.|.;RBBP4_HUMAN	L|W|G	14|57|254;255;3;255;220	.|.|ENSP00000398242:W254G;ENSP00000362592:W255G;ENSP00000442384:W3G;ENSP00000362584:W255G;ENSP00000396057:W220G	.|.|ENSP00000362584:W255G	F|L|W	+|+|+	3|2|1	2|0|0	RBBP4|RBBP4|RBBP4	32907420|32907420|32907420	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.940000|0.940000|0.940000	0.58332|0.58332|0.58332	8.031000|8.031000|8.031000	0.88826|0.88826|0.88826	2.118000|2.118000|2.118000	0.64928|0.64928|0.64928	0.402000|0.402000|0.402000	0.26972|0.26972|0.26972	TTT|TTG|TGG		0.353	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610	Missense_Mutation	G	33134833	T	G	33134833	5	3	32	1	0	0	0	0	0	0	1	0	13101	1826	63	5	789	5	RBBP4	1	33134833	Splice_Site	SNP	T	TCGA-06-0168-01A-01D-1491-08		33134833	216115788	1	1931											
CYP4A11	1579	broad.mit.edu	37	chr1	47399686	47399686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaatgcctggcaccGgtgggtagagcctcagtgcc	6	8	13	14	1	2	1	1	0	1	1	2	1	2	1	5	3	4	2	5	3	2	1	rs66477740	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:47399686G>A	ENST00000310638.4	-	9	1185	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CYP4A11_ENST00000462347.1_Missense_Mutation_p.P287L|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.P385L|CYP4A11_ENST00000371904.4_Missense_Mutation_p.P386L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	385					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCTGGCACCGGTGGGTAGAG	0.567																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1153-1155)cCg>cTg		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						102	83	90					1																	47399686		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399686G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1154C>T	1.37:g.47399686G>A	ENSP00000311095:p.Pro385Leu					CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_Non-coding_Transcript	p.P385L	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			8	1205	-			385					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1154C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	34	5.342743	0.95783	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.72394	-0.65;-0.65;-0.65	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.87038	2.855	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	D	0.87630	0.2515	10	0.87932	D	0	.	19.0056	0.92849	0.0:0.0:1.0:0.0	.	385	Q02928	CP4AB_HUMAN	L	385;386;385	ENSP00000311095:P385L;ENSP00000360971:P386L;ENSP00000360972:P385L	ENSP00000311095:P385L	P	-	2	0	CYP4A11	47172273	1.000000	0.71417	0.524000	0.27887	0.280000	0.26924	7.858000	0.86971	2.567000	0.86603	0.650000	0.86243	CCG		0.567	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		A	47399686	G	A	47399686	3	1	32	1	0	0	0	0	1	0	0	0	4183	1116	39	2	421	2	CYP4A11	1	47399686	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	14264853	47399686	201850935	2	1932											
LRP8	7804	broad.mit.edu	37	chr1	53732253	53732253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggcgtgaatagttcCgcttcaccaggtcgatcctc	8	10	12	11	3	1	2	1	2	0	0	5	4	3	3	3	3	0	2	3	3	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:53732253C>T	ENST00000306052.6	-	9	1420	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.R440Q|RP4-784A16.1_ENST00000432653.1_RNA|LRP8_ENST00000347547.2_Missense_Mutation_p.R270Q|LRP8_ENST00000354412.3_Missense_Mutation_p.R311Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	440					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAATAGTTCCGCTTCACCAG	0.537																																						uc001cvi.2																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1318-1320)cGg>cAg		Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.							223	177	193					1																	53732253		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53732253C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1319G>A	1.37:g.53732253C>T	ENSP00000303634:p.Arg440Gln					LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Missense_Mutation_p.R440Q|LRP8_uc001cvk.2_Missense_Mutation_p.R270Q|LRP8_uc001cvl.2_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	p.R440Q	NM_004631	NP_004622	Q14114	LRP8_HUMAN			8	1556	-			440					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1319G>A	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.952968|3.952968	0.73902|0.73902	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	.|D;D;D;D	.|0.91011	.|-2.77;-2.77;-2.77;-2.77	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|.	.|.	.|.	.|.	D|D	0.91520|0.91520	0.7322|0.7322	L|L	0.33245|0.33245	0.995|0.995	0.47374|0.47374	D|D	0.999403|0.999403	.|D;P;D;P	.|0.76494	.|0.999;0.938;0.999;0.651	.|P;B;P;B	.|0.62435	.|0.902;0.358;0.902;0.266	D|D	0.89745|0.89745	0.3936|0.3936	5|9	.|0.27082	.|T	.|0.32	.|.	18.2971|18.2971	0.90150|0.90150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|311;270;440;440	.|Q14114-2;Q14114-4;Q14114-3;Q14114	.|.;.;.;LRP8_HUMAN	R|Q	129|440;440;311;270	.|ENSP00000303634:R440Q;ENSP00000360509:R440Q;ENSP00000346391:R311Q;ENSP00000334522:R270Q	.|ENSP00000303634:R440Q	G|R	-|-	1|2	0|0	LRP8|LRP8	53504841|53504841	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.438000|0.438000	0.31896|0.31896	2.477000|2.477000	0.45180|0.45180	2.550000|2.550000	0.86006|0.86006	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		T	53732253	C	T	53732253	3	4	32	1	0	0	0	0	1	0	0	0	8963	652	23	2	1616	2	LRP8	1	53732253	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	6332567	53732253	195518368	3	1933											
FLG	2312	broad.mit.edu	37	chr1	152285273	152285273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgatcttgcctgttcatGggatgacgcagcctgtccac	7	12	10	12	1	2	2	1	2	1	0	3	3	3	3	3	1	2	2	3	1	0	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152285273G>T	ENST00000368799.1	-	3	2124	c.2089C>A	c.(2089-2091)Cat>Aat	p.H697N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	697	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTTCATGGGATGACGCA	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2089-2091)Cat>Aat		Homo sapiens filaggrin (FLG), mRNA.							392	392	392					1																	152285273		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285273G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2089C>A	1.37:g.152285273G>T	ENSP00000357789:p.His697Asn					AK056431_uc001ezv.3_5'Flank	p.H697N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2125	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		697			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2089C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	2.967	-0.213302	0.06140	.	.	ENSG00000143631	ENST00000368799	T	0.00659	5.94	2.06	1.11	0.20524	.	.	.	.	.	T	0.00271	0.0008	L	0.47716	1.5	0.09310	N	1	B	0.25048	0.117	B	0.12837	0.008	T	0.40384	-0.9566	9	0.17832	T	0.49	.	3.9122	0.09209	0.2222:0.0:0.7778:0.0	.	697	P20930	FILA_HUMAN	N	697	ENSP00000357789:H697N	ENSP00000357789:H697N	H	-	1	0	FLG	150551897	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.286000	0.18902	1.179000	0.42884	0.586000	0.80456	CAT		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152285273	G	T	152285273	3	4	32	1	0	0	0	0	1	0	0	0	5922	1348	47	5	10100	5	FLG	1	152285273	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	98553020	152285273	96965348	4	1934											
LCE1F	353137	broad.mit.edu	37	chr1	152748961	152748961	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtccccctaagtgcccTcctgtctcttcctgctgcag	5	12	8	16	0	1	0	0	0	1	0	5	0	4	0	5	0	3	2	5	0	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152748961T>C	ENST00000334371.2	+	1	114	c.114T>C	c.(112-114)ccT>ccC	p.P38P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	38	Pro-rich.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctaagtgccctccTGTCTCTT	0.672																																						uc010pdv.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(112-114)ccT>ccC		Homo sapiens late cornified envelope 1F (LCE1F), mRNA.							58	60	59					1																	152748961		2203	4300	6503	SO:0001819	synonymous_variant	353137				keratinization			g.chr1:152748961T>C		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.114T>C	1.37:g.152748961T>C							p.P38P	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	114	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38			Pro-rich.			Silent	SNP	ENST00000334371.2	37	c.114T>C	CCDS1023.1																																																																																				0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		C	152748961	T	C	152748961	2	2	32	1	0	0	0	0	0	0	0	1	8664	1538	54	4		4	LCE1F	1	152748961	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08	463688	152748961	96501660	5	1935											
C1orf66	51093	broad.mit.edu	37	chr1	156702252	156702252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaagcagcatgagatccGgaggctgggagaggtgagga	13	4	18	6	1	0	4	0	2	0	3	1	8	1	6	1	5	2	3	1	5	2	0	rs369382121		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:156702252G>A	ENST00000368216.4	+	3	1046	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	RRNAD1_ENST00000368218.4_Missense_Mutation_p.R139Q|RRNAD1_ENST00000524343.1_3'UTR|RRNAD1_ENST00000476229.1_Missense_Mutation_p.R37Q	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	139						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CATGAGATCCGGAGGCTGGGA	0.562																																						uc001fpu.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(415-417)cGg>cAg		Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	33	32	32		416,416	5	1	1		32	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRNAD1	NM_001142560.1,NM_015997.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	139/278,139/476	156702252	1,13005	2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702252G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.416G>A	1.37:g.156702252G>A	ENSP00000357199:p.Arg139Gln					RRNAD1_uc001fpv.3_Missense_Mutation_p.R139Q	p.R139Q	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN			2	1050	+			139					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.416G>A	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.549894|3.549894	0.65311|0.65311	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16811|0.16811	0.0404|0.0404	L|L	0.27053|0.27053	0.805|0.805	0.51233|0.51233	D|D	0.999918|0.999918	.|P;P	.|0.42456	.|0.78;0.532	.|B;B	.|0.36378	.|0.223;0.151	T|T	0.03139|0.03139	-1.1068|-1.1068	5|10	.|0.19590	.|T	.|0.45	-27.1053|-27.1053	16.9248|16.9248	0.86173|0.86173	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|139;139	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	R|Q	26|139;139;139;37;37	.|ENSP00000357201:R139Q;ENSP00000357199:R139Q;ENSP00000429053:R37Q	.|ENSP00000357199:R139Q	G|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154968876|154968876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.839000|5.839000	0.69395|0.69395	2.586000|2.586000	0.87340|0.87340	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.562	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		A	156702252	G	A	156702252	3	1	32	1	0	0	0	0	1	0	0	0	2056	1116	39	2	426	2	C1orf66	1	156702252	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	3953291	156702252	92548369	6	1936											
USH2A	7399	broad.mit.edu	37	chr1	215814045	215814045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacagacaaattgctGtccaccgaaaatggggctcg	13	6	9	13	2	0	1	0	0	0	1	2	2	1	1	3	2	1	2	3	2	3	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:215814045G>A	ENST00000307340.3	-	68	15209	c.14823C>T	c.(14821-14823)gaC>gaT	p.D4941D	USH2A_ENST00000366943.2_Silent_p.D4941D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4941					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAAATTGCTGTCCACCGAAA	0.507										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14821-14823)gaC>gaT		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							117	100	106					1																	215814045		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215814045G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14823C>T	1.37:g.215814045G>A		HNSCC(13;0.011)					p.D4941D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15210	-			4941			Fibronectin type-III 35.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14823C>T	CCDS31025.1																																																																																				0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	215814045	G	A	215814045	2	1	32	1	0	0	0	0	0	0	0	1	17033	1368	48	3		3	USH2A	1	215814045	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	59111793	215814045	33436576	7	1937											
LYST	1130	broad.mit.edu	37	chr1	235969724	235969724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttacgcataaaaaagcCacacagaggaataggtttat	17	10	7	7	1	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	8	6	rs545149427		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:235969724C>T	ENST00000389794.3	-	6	2886	c.2712G>A	c.(2710-2712)gtG>gtA	p.V904V	LYST_ENST00000536965.1_Silent_p.V904V|LYST_ENST00000389793.2_Silent_p.V904V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	904					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAAAAAAGCCACACAGAGGA	0.428																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2710-2712)gtG>gtA		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							66	66	66					1																	235969724		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969724C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2712G>A	1.37:g.235969724C>T						LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.V904V	p.V904V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2887	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	904					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.2712G>A	CCDS31062.1																																																																																				0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235969724	C	T	235969724	2	4	32	1	0	0	0	0	0	0	0	1	9128	581	21	3		3	LYST	1	235969724	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	20155679	235969724	13280897	8	1938											
MTA3	57504	broad.mit.edu	37	chr2	42883411	42883411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatagcccacttacggatCgacagattgaccagttttta	13	11	7	10	2	0	2	0	1	0	1	1	4	0	3	2	1	2	1	2	1	4	6	rs368905145		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:42883411C>T	ENST00000405094.1	+	7	571	c.571C>T	c.(571-573)Cga>Tga	p.R191*	MTA3_ENST00000407270.3_Nonsense_Mutation_p.R191*|MTA3_ENST00000406652.1_Nonsense_Mutation_p.R135*|MTA3_ENST00000406911.1_Nonsense_Mutation_p.R191*|MTA3_ENST00000405592.1_Nonsense_Mutation_p.R135*			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	191	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACTTACGGATCGACAGATTGA	0.328																																						uc002rso.1																			0		p.V135V(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(403-405)Cga>Tga		Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.							120	110	113					2																	42883411		1835	4101	5936	SO:0001587	stop_gained	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42883411C>T	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.571C>T	2.37:g.42883411C>T	ENSP00000385823:p.Arg191*					MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.3_Nonsense_Mutation_p.R191*	p.R135*	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			7	1073	+			191			BAH.		Q9NSP2|Q9ULF4	Nonsense_Mutation	SNP	ENST00000405094.1	37	c.403C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.353199	0.82132	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	.	.	.	5.09	5.09	0.68999	.	0.249386	0.33854	N	0.004498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3391	13.6621	0.62374	0.1543:0.8457:0.0:0.0	.	.	.	.	X	135;135;191;191;191;191	.	ENSP00000282366:R191X	R	+	1	2	MTA3	42736915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.406000	0.52637	2.648000	0.89879	0.650000	0.86243	CGA		0.328	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		T	42883411	C	T	42883411	4	4	32	1	0	0	0	0	0	1	0	0	9910	876	31	2	597	2	MTA3	2	42883411	Nonsense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		42883411	200315962	9	1939											
REV1	51455	broad.mit.edu	37	chr2	100024503	100024507	+	Frame_Shift_Del	DEL	TGATA	TGATA	-																															atacttacccctctcatatcTgatatatttagtttcattgt																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:100024503_100024507delTGATA	ENST00000258428.3	-	15	2660_2664	c.2432_2436delTATCA	c.(2431-2436)atatcafs	p.IS811fs	REV1_ENST00000393445.3_Frame_Shift_Del_p.IS810fs|REV1_ENST00000465835.1_5'UTR|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	811					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.I811M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCATATCTGATATATTTAGTTT	0.346								Direct reversal of damage																														uc002tad.3																			1	Substitution - Missense(1)	p.I811M(2)	NS(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2431-2436)atatcafs	Direct reversal of damage	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100024503_100024507delTGATA	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2432_2436delTATCA	2.37:g.100024503_100024507delTGATA	ENSP00000258428:p.Ile811fs					REV1_uc002tac.3_Frame_Shift_Del_p.I810fs	p.I811fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			14	2644_2648	-			811					O95941|Q53SI7|Q9C0J4|Q9NUP2	Frame_Shift_Del	DEL	ENST00000258428.3	37	c.2432_2436delTATCA	CCDS2045.1																																																																																				0.346	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		-	100024507	TGATA	-	100024503	7	5	32	1	0	1	0	1	0	0	0	0	13239	1567	55	0	1355	0	REV1	2	100024503	Frame_Shift_Del	DEL	TGATA	TCGA-06-0168-01A-01D-1491-08	57141092	100024503	143174870	10	1940											
SEPT10	151011	broad.mit.edu	37	chr2	110303622	110303625	+	Splice_Site	DEL	CTTA	CTTA	-																															cagggagggtggctgggcctCttacttcttacggtccttgt																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:110303622_110303625delCTTA	ENST00000397712.2	-	10	1728		c.e10+1		SEPT10_ENST00000545389.1_Stop_Codon_Del|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397714.2_Splice_Site|SEPT10_ENST00000334001.6_Splice_Site|SEPT10_ENST00000437928.1_Splice_Site|SEPT10_ENST00000415095.1_Stop_Codon_Del|SEPT10_ENST00000356688.4_Splice_Site	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCTGGGCCTCTTACTTCTTACGG	0.505											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002tey.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.e10+1		Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110303622_110303625delCTTA	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"Septins"	14349	protein-coding gene	gene with protein product	"sept1-like"	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1349+1TAAG>-	2.37:g.110303622_110303625delCTTA			OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1426	SEPT10_uc010ywu.1_Stop_Codon_Del|SEPT10_uc002tew.3_Splice_Site_p.N450_splice|SEPT10_uc002tex.3_Splice_Site_p.N427_splice|SEPT10_uc010ywv.2_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_Stop_Codon_Del|SEPT10_uc010fjo.3_Splice_Site	p.K450_splice	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			10	1728	-			0					B3KRQ9|Q86VP5|Q9HAH6	Splice_Site	DEL	ENST00000397712.2	37	c.1349_splice	CCDS46383.1																																																																																				0.505	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	Intron	-	110303625	CTTA	-	110303622	8	5	32	1	0	1	0	1	0	0	1	0	14060	928	32	0		0	SEPT10	2	110303622	Splice_Site	DEL	CTTA	TCGA-06-0168-01A-01D-1491-08	10279119	110303622	132895751	11	1941											
POTEF	728378	broad.mit.edu	37	chr2	130877828	130877828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcttcatagcagagtcGtcgtggtctccagaagcgcc	8	10	12	11	3	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:130877828G>T	ENST00000409914.2	-	3	660	c.261C>A	c.(259-261)gaC>gaA	p.D87E	POTEF_ENST00000361163.4_Missense_Mutation_p.D87E|POTEF_ENST00000360967.5_Missense_Mutation_p.D87E|POTEF_ENST00000357462.5_Missense_Mutation_p.D87E	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAGCAGAGTCGTCGTGGTCTC	0.612																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(259-261)gaC>gaA		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							93	120	111					2																	130877828		2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877828G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.261C>A	2.37:g.130877828G>T	ENSP00000386786:p.Asp87Glu						p.D87E	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	661	-			87					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.261C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	1.582	-0.531241	0.04112	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77229	-1.08;-1.08;1.74;1.72	0.4	-0.8	0.10897	.	.	.	.	.	T	0.63390	0.2507	L	0.61218	1.895	0.09310	N	1	P	0.47910	0.902	B	0.33196	0.159	T	0.54629	-0.8265	8	0.48119	T	0.1	.	.	.	.	.	87	A5A3E0	POTEF_HUMAN	E	87	ENSP00000350052:D87E;ENSP00000386786:D87E;ENSP00000354232:D87E;ENSP00000355012:D87E	ENSP00000350052:D87E	D	-	3	2	POTEF	130594298	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.078000	0.03413	-1.249000	0.02500	-1.236000	0.01555	GAC		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130877828	G	T	130877828	3	4	32	1	0	0	0	0	1	0	0	0	12265	1136	40	5	3026	5	POTEF	2	130877828	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	20574206	130877828	112321545	12	1942											
ITGAV	3685	broad.mit.edu	37	chr2	187506166	187506166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggatcgtggctctgatgGcaaactccaagaggtggggc	9	8	15	9	1	1	2	0	1	1	1	3	3	2	3	1	6	1	2	1	6	2	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:187506166G>A	ENST00000261023.3	+	12	1284	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.G291D|ITGAV_ENST00000374907.3_Missense_Mutation_p.G301D	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	337					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGCTCTGATGGCAAACTCCAA	0.458																																					Melanoma(58;108 1995 6081)	uc002upq.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1009-1011)gGc>gAc		Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.							153	148	149					2																	187506166		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506166G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1010G>A	2.37:g.187506166G>A	ENSP00000261023:p.Gly337Asp					ITGAV_uc010frs.3_Missense_Mutation_p.G301D|ITGAV_uc010zfv.2_Missense_Mutation_p.G291D	p.G337D	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	11	1286	+			337					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1010G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504117	0.96371	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	D;D;D	0.83992	-1.79;-1.79;-1.79	5.71	5.71	0.89125	.	0.094407	0.64402	D	0.000001	D	0.93416	0.7900	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.94092	0.7354	10	0.72032	D	0.01	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	291;301;337	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	D	337;337;301;291	ENSP00000261023:G337D;ENSP00000364042:G301D;ENSP00000404291:G291D	ENSP00000261023:G337D	G	+	2	0	ITGAV	187214411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.707000	0.92482	0.655000	0.94253	GGC		0.458	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		A	187506166	G	A	187506166	3	1	32	1	0	0	0	0	1	0	0	0	7888	1203	42	3	1107	3	ITGAV	2	187506166	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	56628338	187506166	55693207	13	1943											
SGOL2	151246	broad.mit.edu	37	chr2	201437521	201437521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtatgtcaaaagtcagaaAtaattcctgaaaccaaccaa	19	9	5	8	0	2	2	2	1	0	1	3	2	3	2	3	0	2	1	3	0	8	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:201437521A>G	ENST00000357799.4	+	7	2550	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	818					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTCAGAAATAATTCCTGA	0.348																																						uc002uvw.2																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2452-2454)Ata>Gta		Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.							85	80	82					2																	201437521		1827	4083	5910	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437521A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2452A>G	2.37:g.201437521A>G	ENSP00000350447:p.Ile818Val					SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	p.I818V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			6	2565	+			818					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2452A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	3.689	-0.063842	0.07273	.	.	ENSG00000163535	ENST00000357799	T	0.18502	2.21	4.74	1.09	0.20402	.	0.202424	0.34906	N	0.003582	T	0.18002	0.0432	M	0.73962	2.25	0.80722	D	1	B;B;B	0.26975	0.165;0.165;0.041	B;B;B	0.26416	0.069;0.041;0.019	T	0.04203	-1.0969	10	0.62326	D	0.03	-4.565	6.1894	0.20516	0.6933:0.0:0.3067:0.0	.	818;818;818	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	V	818	ENSP00000350447:I818V	ENSP00000350447:I818V	I	+	1	0	SGOL2	201145766	0.998000	0.40836	0.996000	0.52242	0.115000	0.19883	0.831000	0.27476	0.387000	0.25024	0.477000	0.44152	ATA		0.348	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201437521	A	G	201437521	3	3	32	1	0	0	0	0	1	0	0	0	14217	101	4	4	2474	4	SGOL2	2	201437521	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08	13931355	201437521	41761852	14	1944											
FGFR3	2261	broad.mit.edu	37	chr4	1807889	1807889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctcgactactacaagAagacgaccaacgtgagcccg	15	4	8	14	4	0	3	0	1	0	2	1	5	0	3	3	0	5	0	3	0	6	2	rs78311289		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:1807889A>G	ENST00000260795.2	+	13	2050	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	FGFR3_ENST00000352904.1_Missense_Mutation_p.K538E|FGFR3_ENST00000340107.4_Missense_Mutation_p.K652E|FGFR3_ENST00000440486.2_Missense_Mutation_p.K650E|FGFR3_ENST00000412135.2_Missense_Mutation_p.K538E|FGFR3_ENST00000481110.2_Missense_Mutation_p.K651E			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling). {ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19855393, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:9207791}.|K -> M (in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling). {ECO:0000269|PubMed:10671061, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:9207791}.|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations; constitutively activated kinase). {ECO:0000269|PubMed:11055896, ECO:0000269|PubMed:11314002}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.K650E(46)|p.K650Q(5)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CTACTACAAGAAGACGACCAA	0.667		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		51	Substitution - Missense(51)	p.K650E(121)|p.K650M(81)|p.K650Q(10)|p.K650T(5)|p.K650N(1)	urinary_tract(28)|skin(12)|haematopoietic_and_lymphoid_tissue(8)|testis(2)|central_nervous_system(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM002967|CM950476	FGFR3	M	rs78311289	c.(1948-1950)Aag>Gag		Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	Palifermin(DB00039)						31	32	31					4																	1807889		2203	4299	6502	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807889A>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1948A>G	4.37:g.1807889A>G	ENSP00000260795:p.Lys650Glu					FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	p.K650E	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		13	2204	+		Breast(71;0.212)|all_epithelial(65;0.241)	650		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> M (in KERSEB, ACH and TD1).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).	Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1948A>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	17.29	3.352315	0.61293	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.35	4.35	0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.39514	1.22	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.959;0.999;0.999	D	0.88359	0.2986	10	0.87932	D	0	.	13.8152	0.63287	1.0:0.0:0.0:0.0	.	652;538;650;651	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	E	651;652;650;538;650;538	ENSP00000420533:K651E;ENSP00000339824:K652E;ENSP00000414914:K650E;ENSP00000412903:K538E;ENSP00000260795:K650E;ENSP00000231803:K538E	ENSP00000260795:K650E	K	+	1	0	FGFR3	1777687	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	8.925000	0.92832	1.727000	0.51537	0.368000	0.22195	AAG		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		G	1807889	A	G	1807889	3	3	32	1	0	0	0	0	1	0	0	0	5867	247	9	4	2153	4	FGFR3	4	1807889	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		1807889	189346387	15	1945											
BANK1	55024	broad.mit.edu	37	chr4	102984233	102984233	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtttccacattaaggAgaaattacgacaactacgag	14	11	9	7	2	0	1	0	0	0	1	1	4	1	1	1	2	3	2	1	2	5	5			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:102984233A>C	ENST00000322953.4	+	13	2424	c.2150A>C	c.(2149-2151)gAg>gCg	p.E717A	BANK1_ENST00000508653.1_Splice_Site_p.E584A|BANK1_ENST00000504592.1_Splice_Site_p.E702A|BANK1_ENST00000428908.1_Splice_Site_p.E584A|BANK1_ENST00000444316.2_Splice_Site_p.E687A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	717					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CACATTAAGGAGAAATTACGA	0.333																																						uc003hvy.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.e13-1		Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.							84	84	84					4																	102984233		2203	4300	6503	SO:0001630	splice_region_variant	55024				B cell activation			g.chr4:102984233A>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2149-1A>C	4.37:g.102984233A>C						BANK1_uc003hvx.4_Splice_Site_p.E702_splice|BANK1_uc010ill.3_Splice_Site_p.E584_splice|BANK1_uc003hvz.4_Splice_Site_p.E687_splice	p.E717_splice	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	13	2423	+		Hepatocellular(203;0.217)	717					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2149_splice	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560853	0.45590	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.28895	2.24;2.25;1.59;1.59;2.23	5.58	5.58	0.84498	.	0.192431	0.42294	D	0.000733	T	0.43100	0.1232	L	0.58101	1.795	0.31615	N	0.651035	D;P;P	0.57899	0.981;0.925;0.925	P;P;P	0.54100	0.742;0.453;0.453	T	0.56631	-0.7947	10	0.72032	D	0.01	.	12.1345	0.53964	1.0:0.0:0.0:0.0	.	584;717;702	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	A	702;717;584;584;687	ENSP00000421443:E702A;ENSP00000320509:E717A;ENSP00000412748:E584A;ENSP00000422314:E584A;ENSP00000388817:E687A	ENSP00000320509:E717A	E	+	2	0	BANK1	103203256	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	4.620000	0.61226	2.118000	0.64928	0.459000	0.35465	GAG		0.333	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	Missense_Mutation	C	102984233	A	C	102984233	5	2	32	1	0	0	0	0	0	0	1	0	1309	318	11	5	2200	5	BANK1	4	102984233	Splice_Site	SNP	A	TCGA-06-0168-01A-01D-1491-08	101176344	102984233	88170043	16	1946											
NDST4	64579	broad.mit.edu	37	chr4	115792048	115792048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttgaccaagttcacaaagGtatataaccctaggcggtca	14	9	9	9	1	2	1	2	1	0	0	2	1	2	1	2	3	1	3	2	3	6	6			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:115792048G>C	ENST00000264363.2	-	7	2273	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	532	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTCACAAAGGTATATAACCC	0.403																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1594-1596)aCc>aGc		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							100	109	106					4																	115792048		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115792048G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1595C>G	4.37:g.115792048G>C	ENSP00000264363:p.Thr532Ser					NDST4_uc010imw.3_Non-coding_Transcript	p.T532S	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2274	-		Ovarian(17;0.156)	532			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1595C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741308	0.89573	.	.	ENSG00000138653	ENST00000264363	T	0.43294	0.95	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.82517	2.595	0.80722	D	1	D	0.62365	0.991	P	0.57283	0.817	T	0.69910	-0.5017	10	0.56958	D	0.05	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	532	Q9H3R1	NDST4_HUMAN	S	532	ENSP00000264363:T532S	ENSP00000264363:T532S	T	-	2	0	NDST4	116011497	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.864000	0.99589	2.419000	0.82065	0.561000	0.74099	ACC		0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		C	115792048	G	C	115792048	3	2	32	1	0	0	0	0	1	0	0	0	10258	1261	44	5	1055	5	NDST4	4	115792048	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	12807815	115792048	75362228	17	1947											
NDST3	9348	broad.mit.edu	37	chr4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattctccattgattcGtgtgaccaaatcttccaagc	9	14	5	13	1	3	2	1	2	2	0	7	2	5	2	4	0	1	0	4	0	2	4	rs377531754		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:118975673G>A	ENST00000296499.5	+	2	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358																																						uc003ibx.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(607-609)cGt>cAt		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121	124	123		608	-2.3	0.9	4		123	1,8597	1.2+/-3.3	0,1,4298	no	missense	NDST3	NM_004784.2	29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	203/874	118975673	2,13002	2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.608G>A	4.37:g.118975673G>A	ENSP00000296499:p.Arg203His					NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.3_Missense_Mutation_p.R203H	p.R203H	NM_004784	NP_004775	O95803	NDST3_HUMAN			1	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393219	0.11638	2.27E-4	1.16E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46063	1.22;0.88	5.07	-2.27	0.06846	.	0.268407	0.41712	N	0.000822	T	0.16854	0.0405	N	0.03983	-0.305	0.31168	N	0.703555	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.14924	-1.0455	10	0.23891	T	0.37	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	H	203	ENSP00000296499:R203H;ENSP00000396625:R203H	ENSP00000296499:R203H	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		A	118975673	G	A	118975673	3	1	32	1	0	0	0	0	1	0	0	0	10257	1145	40	1	610	1	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	3183625	118975673	72178603	18	1948											
ASB5	140458	broad.mit.edu	37	chr4	177190191	177190191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcttaaaacagaacagCgaaagtattgtaaagtagac	21	7	8	5	1	0	2	0	0	0	2	0	3	0	2	0	0	4	4	0	0	10	5			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:177190191C>T	ENST00000296525.3	-	1	182	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	23					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AACAGAACAGCGAAAGTATTG	0.433																																						uc003iuq.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(67-69)tcG>tcA		Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.							106	99	102					4																	177190191		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177190191C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.69G>A	4.37:g.177190191C>T							p.S23S	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	0	183	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	23					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.69G>A	CCDS3827.1																																																																																				0.433	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			T	177190191	C	T	177190191	2	4	32	1	0	0	0	0	0	0	0	1	1026	755	27	1		1	ASB5	4	177190191	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	58214518	177190191	13964085	19	1949											
PCDHA3	56145	broad.mit.edu	37	chr5	140182149	140182149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacaatgcgccggcattctCgcagtccgagtacacggtgt	8	8	12	13	6	1	0	0	0	1	0	3	2	2	0	2	2	2	3	2	2	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140182149C>T	ENST00000522353.2	+	1	1367	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S456L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S456L(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCATTCTCGCAGTCCGAG	0.672																																						uc003lhf.2																			2	Substitution - Missense(2)	p.S456L(2)	skin(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1366-1368)tCg>tTg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							96	96	96					5																	140182149		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140182149C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1367C>T	5.37:g.140182149C>T	ENSP00000429808:p.Ser456Leu					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S456L	p.S456L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1367	+			470			Cadherin 4.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1367C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	7.270	0.607010	0.14002	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.61040	0.14;0.14	4.75	1.7	0.24286	Cadherin (3);Cadherin-like (1);	0.177585	0.26187	U	0.025824	T	0.44582	0.1300	L	0.33624	1.015	0.09310	N	1	B;B	0.28350	0.208;0.062	B;B	0.27170	0.077;0.01	T	0.32079	-0.9920	10	0.33141	T	0.24	.	13.7258	0.62756	0.5146:0.4854:0.0:0.0	.	456;456	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	456	ENSP00000429808:S456L;ENSP00000434086:S456L	ENSP00000429808:S456L	S	+	2	0	PCDHA3	140162333	0.000000	0.05858	0.862000	0.33874	0.314000	0.28054	-0.806000	0.04525	0.526000	0.28541	-0.492000	0.04666	TCG		0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140182149	C	T	140182149	3	4	32	1	0	0	0	0	1	0	0	0	11525	893	31	2	1369	2	PCDHA3	5	140182149	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		140182149	40733111	20	1950											
PCDHB13	56123	broad.mit.edu	37	chr5	140595338	140595338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcgaggcgctggtgcGcgtggtggtgctggacgcca	5	6	20	10	5	0	0	0	0	0	0	0	3	0	1	1	5	4	3	1	5	0	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140595338G>A	ENST00000341948.4	+	1	1830	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGGTGGTG	0.716																																						uc003lja.1																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1642-1644)cGc>cAc		Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.							34	39	37					5																	140595338		2202	4298	6500	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595338G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1643G>A	5.37:g.140595338G>A	ENSP00000345491:p.Arg548His						p.R548H	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1830	+			548			Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1643G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.62	2.591044	0.46214	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01767	4.65	3.0	3.0	0.34707	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01765	0.0056	N	0.25380	0.74	0.25078	N	0.990942	P	0.40875	0.731	B	0.37198	0.243	T	0.50890	-0.8774	9	0.59425	D	0.04	.	10.002	0.41935	0.0:0.0:0.7969:0.203	.	548	Q9Y5F0	PCDBD_HUMAN	H	548;548;494	ENSP00000345491:R548H	ENSP00000345491:R548H	R	+	2	0	PCDHB13	140575522	0.000000	0.05858	0.072000	0.20136	0.003000	0.03518	0.341000	0.19909	1.644000	0.50603	0.449000	0.29647	CGC		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		A	140595338	G	A	140595338	3	1	32	1	0	0	0	0	1	0	0	0	11538	1087	38	1	1645	1	PCDHB13	5	140595338	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	413189	140595338	40319922	21	1951											
PRPF4B	8899	broad.mit.edu	37	chr6	4042762	4042762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagaagatgaagaagcccTaatagaacagagaagaatcc	20	4	11	6	0	0	7	0	1	0	6	1	9	1	8	2	1	2	0	2	1	9	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:4042762T>C	ENST00000337659.6	+	5	1710	c.1610T>C	c.(1609-1611)cTa>cCa	p.L537P	PRPF4B_ENST00000538861.1_Missense_Mutation_p.L523P	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	537					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAAGAAGCCCTAATAGAACAG	0.313																																						uc003mvv.3																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1609-1611)cTa>cCa		Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.							80	85	83					6																	4042762		2203	4299	6502	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4042762T>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1610T>C	6.37:g.4042762T>C	ENSP00000337194:p.Leu537Pro					PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	p.L537P	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			4	1701	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	537					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1610T>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586513	0.46110	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69926	-0.43;-0.44	5.45	5.45	0.79879	.	0.549638	0.16181	N	0.225821	T	0.50973	0.1647	L	0.50333	1.59	0.45261	D	0.998264	B	0.30021	0.265	B	0.34180	0.177	T	0.58544	-0.7618	10	0.59425	D	0.04	.	11.5903	0.50941	0.1411:0.0:0.0:0.8589	.	537	Q13523	PRP4B_HUMAN	P	537;523	ENSP00000337194:L537P;ENSP00000439331:L523P	ENSP00000337194:L537P	L	+	2	0	PRPF4B	3987761	0.979000	0.34478	0.247000	0.24249	0.957000	0.61999	5.934000	0.70138	2.196000	0.70406	0.460000	0.39030	CTA		0.313	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			C	4042762	T	C	4042762	3	2	32	1	0	0	0	0	1	0	0	0	12573	1522	53	4	1628	4	PRPF4B	6	4042762	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08		4042762	167072305	22	1952											
OR2H1	26716	broad.mit.edu	37	chr6	29430141	29430141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaaatccagttggctGtgtccagtgtcatcttcgtg	9	13	10	9	1	2	1	1	1	1	0	5	1	4	1	2	1	0	2	2	1	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:29430141G>C	ENST00000377136.1	+	4	1060	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	OR2H1_ENST00000377132.1_Missense_Mutation_p.V199L|OR2H1_ENST00000396792.2_Missense_Mutation_p.V199L|OR2H1_ENST00000377133.1_Missense_Mutation_p.V199L|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.V199L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCAGTTGGCTGTGTCCAGTGT	0.512																																						uc003nmi.3																			0				large_intestine(5)|lung(12)	17						c.(595-597)Gtg>Ctg		Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.							191	181	185					6																	29430141		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430141G>C	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.595G>C	6.37:g.29430141G>C	ENSP00000366340:p.Val199Leu					OR2H1_uc003nmj.1_Missense_Mutation_p.V199L|OR2H1_uc010jri.2_Missense_Mutation_p.V121L|OR2H1_uc021ytr.1_Missense_Mutation_p.V199L	p.V199L	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			2	1038	+			199					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.595G>C	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	4.657	0.122216	0.08931	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00193	8.58;8.58;8.58;8.58;8.58	3.09	0.915	0.19366	GPCR, rhodopsin-like superfamily (1);	0.221129	0.23016	N	0.052904	T	0.00073	0.0002	L	0.42487	1.325	0.09310	N	1	B	0.31790	0.34	B	0.39503	0.301	T	0.09552	-1.0669	10	0.51188	T	0.08	.	8.0148	0.30374	0.2494:0.0:0.7506:0.0	.	199	Q9GZK4	OR2H1_HUMAN	L	199	ENSP00000366340:V199L;ENSP00000366337:V199L;ENSP00000393254:V199L;ENSP00000366336:V199L;ENSP00000380010:V199L	ENSP00000366336:V199L	V	+	1	0	OR2H1	29538120	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.236000	0.17967	0.199000	0.20427	-0.199000	0.12753	GTG		0.512	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			C	29430141	G	C	29430141	3	2	32	1	0	0	0	0	1	0	0	0	11001	1377	48	5	597	5	OR2H1	6	29430141	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	25387379	29430141	141684926	23	1953											
SASH1	23328	broad.mit.edu	37	chr6	148854037	148854037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccgaggcccgttctgcGggcgtgccagggtgcacacc	5	7	14	15	4	1	0	0	0	1	0	1	1	1	0	4	3	4	2	4	3	1	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:148854037G>A	ENST00000367467.3	+	14	2144	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	557	SH3.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.G557R(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCGTTCTGCGGGCGTGCCAG	0.582																																						uc003qme.1																			1	Substitution - Missense(1)	p.G557R(2)	large_intestine(1)	breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1669-1671)Ggg>Agg		Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.							130	126	127					6																	148854037		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148854037G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1669G>A	6.37:g.148854037G>A	ENSP00000356437:p.Gly557Arg					SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	p.G557R	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	2144	+		Ovarian(120;0.0169)	557			SH3.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1669G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779928	0.90195	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.28454	1.61	4.86	4.86	0.63082	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66720	-0.5852	10	0.72032	D	0.01	-30.4101	18.2189	0.89895	0.0:0.0:1.0:0.0	.	538;557	Q6P4R9;O94885	.;SASH1_HUMAN	R	557;318	ENSP00000356437:G557R	ENSP00000356437:G557R	G	+	1	0	SASH1	148895730	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	9.208000	0.95075	2.537000	0.85549	0.655000	0.94253	GGG		0.582	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		A	148854037	G	A	148854037	3	1	32	1	0	0	0	0	1	0	0	0	13848	1116	39	2	1723	2	SASH1	6	148854037	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	119423896	148854037	22261030	24	1954											
GRM3	2913	broad.mit.edu	37	chr7	86415679	86415679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattactttgccaggaccGtgccccccgacttctaccag	8	10	8	15	2	1	1	0	1	1	0	1	3	1	2	6	1	4	0	6	1	2	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:86415679G>A	ENST00000361669.2	+	3	1670	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRM3_ENST00000536043.1_Missense_Mutation_p.V63M|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.V191M|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.V189M	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCCAGGACCGTGCCCCCCGA	0.567																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-573)Gtg>Atg		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						119	111	114					7																	86415679		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415679G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.571G>A	7.37:g.86415679G>A	ENSP00000355316:p.Val191Met					GRM3_uc010lef.3_Missense_Mutation_p.V189M|GRM3_uc010leg.3_Missense_Mutation_p.V63M|GRM3_uc010leh.3_Intron	p.V191M	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1670	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.571G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647636	0.87958	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94697	0.7879	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	63;191;191	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	M	191;63;63;191;189	ENSP00000355316:V191M;ENSP00000405427:V63M;ENSP00000441407:V63M;ENSP00000398767:V191M;ENSP00000378209:V189M	ENSP00000355316:V191M	V	+	1	0	GRM3	86253615	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GTG		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86415679	G	A	86415679	3	1	32	1	0	0	0	0	1	0	0	0	6798	1145	40	1	577	1	GRM3	7	86415679	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08		86415679	72722984	25	1955											
MUC17	140453	broad.mit.edu	37	chr7	100678176	100678176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccagtgaaggaaccaCtccgttagcaagtatgcctg	11	8	9	13	1	0	1	0	1	0	0	2	2	2	2	5	1	3	3	5	1	5	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:100678176C>G	ENST00000306151.4	+	3	3543	c.3479C>G	c.(3478-3480)aCt>aGt	p.T1160S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1160	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAACCACTCCGTTAGCA	0.522																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3478-3480)aCt>aGt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							390	334	353					7																	100678176		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678176C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3479C>G	7.37:g.100678176C>G	ENSP00000302716:p.Thr1160Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.T1160S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	3532	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1160			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3479C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.742	-0.491343	0.04322	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.629	-1.26	0.09376	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	B	0.30851	0.297	B	0.19148	0.024	T	0.49234	-0.8961	9	0.15499	T	0.54	.	6.1325	0.20213	0.0:0.6809:0.3191:0.0	.	1160	Q685J3	MUC17_HUMAN	S	1160	ENSP00000302716:T1160S	ENSP00000302716:T1160S	T	+	2	0	MUC17	100464896	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	2.673000	0.46858	-0.374000	0.07967	0.134000	0.15878	ACT		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678176	C	G	100678176	3	3	32	1	0	0	0	0	1	0	0	0	9974	565	20	5	3489	5	MUC17	7	100678176	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	14262497	100678176	58460487	26	1956											
PTPRZ1	5803	broad.mit.edu	37	chr7	121636615	121636615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgacagatggctatcaaGacttggtaactatatgatca	13	14	8	6	0	2	4	2	2	0	2	2	4	2	4	0	2	1	2	0	2	5	7			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:121636615G>C	ENST00000393386.2	+	9	1519	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D370H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	370	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGCTATCAAGACTTGGTAAC	0.338																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1108-1110)Gac>Cac		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							149	143	145					7																	121636615		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636615G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1108G>C	7.37:g.121636615G>C	ENSP00000377047:p.Asp370His					PTPRZ1_uc011knt.2_Missense_Mutation_p.D370H|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D370H	p.D370H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			8	1503	+			370			Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1108G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813376	0.90790	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.57436	0.4;0.4	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.66157	0.2761	L	0.32530	0.975	0.49687	D	0.999816	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67381	-0.5685	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	370;370	C9JFM0;P23471	.;PTPRZ_HUMAN	H	370	ENSP00000377047:D370H;ENSP00000410000:D370H	ENSP00000377047:D370H	D	+	1	0	PTPRZ1	121423851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.209000	0.95087	2.783000	0.95769	0.655000	0.94253	GAC		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		C	121636615	G	C	121636615	3	2	32	1	0	0	0	0	1	0	0	0	12814	942	33	5	1142	5	PTPRZ1	7	121636615	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	20958439	121636615	37502048	27	1957											
EPHB6	2051	broad.mit.edu	37	chr7	142562429	142562430	+	Missense_Mutation	DNP	AA	AA	CC																															tgcactgcaacggggagggcAagtggatggtagctgtcggg																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:142562429_142562430AA>CC	ENST00000392957.2	+	7	1658_1659	c.871_872AA>CC	c.(871-873)AAg>CCg	p.K291P	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.K291P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	291	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGGAGGGCAAGTGGATGGTA	0.653																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(871-873)aag>CCg		Homo sapiens EPH receptor B6 (EPHB6), mRNA.																																				SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562429_142562430AA>CC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	Exception_encountered	7.37:g.142562429_142562430delinsCC	ENSP00000376684:p.Lys291Pro					EPHB6_uc011ksu.2_Missense_Mutation_p.K291P|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	p.K291P	NM_004445	NP_004436	O15197	EPHB6_HUMAN			6	1658_1659	+	Melanoma(164;0.059)		291			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	DNP	ENST00000392957.2	37	c.871_872AA>CC	CCDS5873.2																																																																																				0.653	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			CC	142562430	AA	CC	142562429	3	2	32	1	0	0	0	0	1	0	0	0	5178	131	5	5	881	5	EPHB6	7	142562429	Missense_Mutation	DNP	AA	TCGA-06-0168-01A-01D-1491-08	20925814	142562429	16576234	28	1958											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594493	70594493	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattccatctgatccacAgactggctcatactcgtgta	10	13	7	11	1	2	2	1	1	1	1	5	2	4	2	2	1	1	3	2	1	3	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr8:70594493A>T	ENST00000260126.4	-	7	2414	c.1708T>A	c.(1708-1710)Tgt>Agt	p.C570S	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C515S|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C570S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	570	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGATCCACAGACTGGCTCA	0.428																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1708-1710)Tgt>Agt		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							184	158	167					8																	70594493		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594493A>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1708T>A	8.37:g.70594493A>T	ENSP00000260126:p.Cys570Ser					SLCO5A1_uc010lzb.3_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.C570S	p.C570S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2415	-	Breast(64;0.0654)		570			Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1708T>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.928201	0.92389	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.31247	1.5;1.5;1.5	5.77	5.77	0.91146	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.84230	0.0466	10	0.87932	D	0	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	515;570;570	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	S	570;570;515	ENSP00000260126:C570S;ENSP00000434422:C570S;ENSP00000431611:C515S	ENSP00000260126:C570S	C	-	1	0	SLCO5A1	70757047	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.273000	0.95719	2.200000	0.70718	0.459000	0.35465	TGT		0.428	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		T	70594493	A	T	70594493	3	4	32	1	0	0	0	0	1	0	0	0	14731	188	7	5	854	5	SLCO5A1	8	70594493	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		70594493	75769529	29	1959											
C9orf66	157983	broad.mit.edu	37	chr9	214614	214614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcagatggagcttccgGcctgcgcgcagtggtcgcct	4	8	16	13	5	0	1	0	0	0	1	3	2	1	2	3	4	2	3	3	4	0	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:214614G>T	ENST00000382387.2	-	1	1279	c.783C>A	c.(781-783)ggC>ggA	p.G261G	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	261	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAGCTTCCGGCCTGCGCGCA	0.711																																						uc003zge.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(781-783)ggC>ggA		Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.							20	21	21					9																	214614		2203	4299	6502	SO:0001819	synonymous_variant	157983							g.chr9:214614G>T	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.783C>A	9.37:g.214614G>T						DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	p.G261G	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	0	1280	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	261			Arg-rich.		Q96NB0	Silent	SNP	ENST00000382387.2	37	c.783C>A	CCDS6439.1																																																																																				0.711	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		T	214614	G	T	214614	2	4	32	1	0	0	0	0	0	0	0	1	2490	1190	42	5		5	C9orf66	9	214614	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		214614	140998817	30	1960											
SVEP1	79987	broad.mit.edu	37	chr9	113169426	113169426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatcccagtttttGtcatcctggcatgttctcct	5	17	5	14	0	4	0	3	0	1	0	8	0	7	0	4	1	0	3	4	1	0	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:113169426G>C	ENST00000401783.2	-	38	8790	c.8454C>G	c.(8452-8454)gaC>gaG	p.D2818E	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2795E|SVEP1_ENST00000297826.5_Missense_Mutation_p.D744E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2818	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGTTTTTGTCATCCTGGC	0.512																																						uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8452-8454)gaC>gaG		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							137	134	135					9																	113169426		2048	4198	6246	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169426G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8454C>G	9.37:g.113169426G>C	ENSP00000384917:p.Asp2818Glu					SVEP1_uc010mty.3_Missense_Mutation_p.D744E	p.D2818E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	8791	-			2818			Sushi 23.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8454C>G	CCDS48004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.889|1.889	-0.456026|-0.456026	0.04540|0.04540	.|.	.|.	ENSG00000165124|ENSG00000165124	ENST00000374463|ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	.|T;T;T	.|0.67171	.|-0.25;-0.25;-0.25	5.58|5.58	1.3|1.3	0.21679|0.21679	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.298550	.|0.40818	.|N	.|0.001001	.|T	.|0.63010	.|0.2475	M|M	0.73753|0.73753	2.245|2.245	0.18873|0.18873	N|N	0.999989|0.999989	.|B	.|0.30824	.|0.296	.|B	.|0.33846	.|0.171	.|T	.|0.58674	.|-0.7595	.|10	.|0.59425	.|D	.|0.04	.|.	7.6803|7.6803	0.28509|0.28509	0.4904:0.0:0.5096:0.0|0.4904:0.0:0.5096:0.0	.|.	.|2818	.|Q4LDE5	.|SVEP1_HUMAN	.|E	-1|2818;2795;744;490	.|ENSP00000384917:D2818E;ENSP00000363593:D2795E;ENSP00000297826:D744E	.|ENSP00000297826:D744E	.|D	-|-	.|3	.|2	SVEP1|SVEP1	112209247|112209247	0.173000|0.173000	0.23056|0.23056	0.210000|0.210000	0.23637|0.23637	0.028000|0.028000	0.11728|0.11728	0.550000|0.550000	0.23345|0.23345	0.397000|0.397000	0.25310|0.25310	-0.469000|-0.469000	0.05056|0.05056	.|GAC		0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113169426	G	C	113169426	3	2	32	1	0	0	0	0	1	0	0	0	15417	1368	48	5	2305	5	SVEP1	9	113169426	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	112954812	113169426	28044005	31	1961											
RTKN2	219790	broad.mit.edu	37	chr10	63957964	63957964	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttaagctgaatggaagTttatcagaaggaggaagggg	14	10	15	2	0	1	2	1	1	0	1	1	6	1	5	0	5	1	2	0	5	6	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:63957964T>C	ENST00000373789.3	-	12	1629	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	511					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGAATGGAAGTTTATCAGAAG	0.398																																						uc001jlw.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1531-1533)aaA>aaG		Homo sapiens rhotekin 2 (RTKN2), mRNA.							224	223	224					10																	63957964		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957964T>C	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1533A>G	10.37:g.63957964T>C						RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.K165K	p.K511K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			11	1630	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		511					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1533A>G	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		C	63957964	T	C	63957964	2	2	32	1	0	0	0	0	0	0	0	1	13723	1722	60	4		4	RTKN2	10	63957964	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		63957964	71576783	32	1962											
PTEN	5728	broad.mit.edu	37	chr10	89720827	89720831	+	Frame_Shift_Del	DEL	CAAAG	CAAAG	-																															ttaacaaaaaatgatcttgaCaaagcaaataaagacaaagc																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:89720827_89720831delCAAAG	ENST00000371953.3	+	8	2335_2339	c.978_982delCAAAG	c.(976-984)gacaaagcafs	p.KA327fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	327	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGATCTTGACAAAGCAAATAAAGA	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)|Insertion - Frameshift(1)	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D326fs*4(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.L325H(1)|p.L325V(1)|p.L325P(1)|p.L325R(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD982917	PTEN	D		c.(976-984)gacaaagcafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720827_89720831delCAAAG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.978_982delCAAAG	10.37:g.89720827_89720831delCAAAG	ENSP00000361021:p.Lys327fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D326fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2010_2014	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	326			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.978_982delCAAAG	CCDS31238.1																																																																																				0.337	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720831	CAAAG	-	89720827	7	5	32	1	0	1	0	1	0	0	0	0	12738	477	17	0	1008	0	PTEN	10	89720827	Frame_Shift_Del	DEL	CAAAG	TCGA-06-0168-01A-01D-1491-08	25762863	89720827	45813920	33	1963											
OR10A3	26496	broad.mit.edu	37	chr11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcttcatctcactgtttCgtaagctatagatgagcgga	9	14	8	10	2	3	2	2	1	2	1	6	3	4	3	1	1	2	3	1	1	3	5	rs146552050		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:7960190C>T	ENST00000360759.3	-	1	951	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	293					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418													C|||	1	0.000199681	0	0	5008	,	,		20080	0.001		0	False		,,,				2504	0					uc010rbi.2																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(877-879)cGa>cAa		Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	147	136	140		878	3.7	0.9	11	dbSNP_134	140	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR10A3	NM_001003745.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	benign	293/315	7960190	2,12992	2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960190C>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.878G>A	11.37:g.7960190C>T	ENSP00000353988:p.Arg293Gln						p.R293Q	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	878	-			293					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.878G>A	CCDS31421.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.744	0.321669	0.10845	2.27E-4	1.16E-4	ENSG00000170683	ENST00000360759	T	0.41065	1.01	4.65	3.73	0.42828	.	0.000000	0.34531	U	0.003899	T	0.38931	0.1059	M	0.71036	2.16	0.09310	N	1	B	0.32396	0.369	B	0.23419	0.046	T	0.38436	-0.9661	10	0.87932	D	0	.	10.129	0.42667	0.0:0.8234:0.0:0.1766	.	293	P58181	O10A3_HUMAN	Q	293	ENSP00000353988:R293Q	ENSP00000353988:R293Q	R	-	2	0	OR10A3	7916766	0.015000	0.18098	0.861000	0.33841	0.007000	0.05969	1.770000	0.38532	0.702000	0.31825	-1.128000	0.01989	CGA		0.418	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		T	7960190	C	T	7960190	3	4	32	1	0	0	0	0	1	0	0	0	10891	884	31	2	69	2	OR10A3	11	7960190	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		7960190	127046326	34	1964											
SPRYD5	84767	broad.mit.edu	37	chr11	55653196	55653197	+	Missense_Mutation	DNP	GA	GA	TC																															aaatatgtgggatgcacagaGagacaaagaagatgttctgt																								rs528409876	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55653196_55653197GA>TC	ENST00000449290.2	+	2	384_385	c.292_293GA>TC	c.(292-294)GAg>TCg	p.E98S	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GATGCACAGAGAGACAAAGAAG	0.485																																						uc010rip.2																			0											c.(292-294)gag>TCg		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.																																				SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653196_55653197GA>TC	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	Exception_encountered	11.37:g.55653196_55653197delinsTC	ENSP00000395086:p.Glu98Ser					TRIM51_uc010riq.2_5'Flank	p.E98S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			1	384_385	+			98					A6NMG2	Missense_Mutation	DNP	ENST00000449290.2	37	c.292_293GA>TC																																																																																					0.485	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		TC	55653197	GA	TC	55653196	3	4	32	1	0	0	0	0	1	0	0	0	15110	943	33	5	294	5	SPRYD5	11	55653196	Missense_Mutation	DNP	GA	TCGA-06-0168-01A-01D-1491-08	47693006	55653196	79353320	35	1965			1	8		3	3	5719	N	T_GA_A	5.124568e-05
SPRYD5	84767	broad.mit.edu	37	chr11	55658647	55658647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaagagccaatagtcatAtcttcctgtgtggagatttg	11	13	10	7	0	2	3	1	1	1	2	3	4	3	3	2	1	1	0	2	1	4	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55658647A>T	ENST00000449290.2	+	7	990	c.898A>T	c.(898-900)Atc>Ttc	p.I300F	TRIM51_ENST00000244891.3_Missense_Mutation_p.I157F	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAATAGTCATATCTTCCTGTG	0.348																																						uc010rip.2																			0											c.(898-900)Atc>Ttc		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							73	79	77					11																	55658647		2055	3910	5965	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658647A>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.898A>T	11.37:g.55658647A>T	ENSP00000395086:p.Ile300Phe					TRIM51_uc010riq.2_Missense_Mutation_p.I157F	p.I300F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	990	+			300			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.898A>T		.	.	.	.	.	.	.	.	.	.	.	14.87	2.663638	0.47572	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.08720	3.06;3.06	0.892	-1.78	0.07957	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.14743	0.0356	M	0.66439	2.03	0.26851	N	0.968155	D	0.56287	0.975	P	0.55667	0.781	T	0.17258	-1.0375	9	0.72032	D	0.01	.	2.8881	0.05668	0.5082:0.4918:0.0:0.0	.	300	Q9BSJ1	SPRY5_HUMAN	F	300;157	ENSP00000395086:I300F;ENSP00000244891:I157F	ENSP00000244891:I157F	I	+	1	0	SPRYD5	55415223	0.427000	0.25514	0.375000	0.26029	0.439000	0.31926	0.814000	0.27239	0.138000	0.18790	0.136000	0.15936	ATC		0.348	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55658647	A	T	55658647	3	4	32	1	0	0	0	0	1	0	0	0	15110	449	16	5	920	5	SPRYD5	11	55658647	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08	5451	55658647	79347869	36	1966			1	8		3	3	5719	N	T_GA_A	5.124568e-05
SPRYD5	84767	broad.mit.edu	37	chr11	55658914	55658914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaaggaggacactcacTgcagtctctttaccacctcc	9	11	8	13	0	2	0	1	0	1	0	4	2	3	2	3	2	2	2	3	2	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55658914T>A	ENST00000449290.2	+	7	1257	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	TRIM51_ENST00000244891.3_Missense_Mutation_p.C246S	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGACACTCACTGCAGTCTCTT	0.448																																						uc010rip.2																			0											c.(1165-1167)Tgc>Agc		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							31	31	31					11																	55658914		2121	4088	6209	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658914T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1165T>A	11.37:g.55658914T>A	ENSP00000395086:p.Cys389Ser					TRIM51_uc010riq.2_Missense_Mutation_p.C246S	p.C389S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	1257	+			389			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1165T>A		.	.	.	.	.	.	.	.	.	.	.	3.105	-0.183940	0.06340	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.60548	0.18;0.18	1.36	0.144	0.14824	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.41096	0.1144	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.21546	0.035	T	0.25813	-1.0121	9	0.23302	T	0.38	.	2.7303	0.05225	0.0:0.3422:0.0:0.6578	.	389	Q9BSJ1	SPRY5_HUMAN	S	389;246	ENSP00000395086:C389S;ENSP00000244891:C246S	ENSP00000244891:C246S	C	+	1	0	SPRYD5	55415490	0.537000	0.26386	0.003000	0.11579	0.209000	0.24338	1.619000	0.36965	0.540000	0.28808	0.136000	0.15936	TGC		0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55658914	T	A	55658914	3	1	32	1	0	0	0	0	1	0	0	0	15110	1580	55	5	1187	5	SPRYD5	11	55658914	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	267	55658914	79347602	37	1967			1	8		3	3	5719	N	T_GA_A	5.124568e-05
OR8J3	81168	broad.mit.edu	37	chr11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacaaatggccacatagcGgtcataggccatcacagcca	13	7	9	12	1	2	0	2	0	0	0	2	0	2	0	3	3	3	1	3	3	4	3	rs201535279	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55904831G>A	ENST00000301529.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502													G|||	2	0.000399361	0.0015	0	5008	,	,		17501	0		0	False		,,,				2504	0					uc010riz.2																			0		p.D121Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(364-366)Cgc>Tgc		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.		G	CYS/ARG	3,4399	6.2+/-15.9	0,3,2198	151	138	142		364	3.3	1	11		142	0,8592		0,0,4296	no	missense	OR8J3	NM_001004064.1	180	0,3,6494	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	122/316	55904831	3,12991	2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904831G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.364C>T	11.37:g.55904831G>A	ENSP00000301529:p.Arg122Cys						p.R122C	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	364	-	Esophageal squamous(21;0.00693)		122					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.364C>T	CCDS31520.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.04	3.534519	0.64972	6.82E-4	0.0	ENSG00000167822	ENST00000301529	T	0.77358	-1.09	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.83431	0.5253	M	0.76433	2.335	0.38528	D	0.948897	D	0.62365	0.991	P	0.58970	0.849	D	0.85834	0.1393	10	0.66056	D	0.02	.	9.9828	0.41824	0.0:0.0:0.797:0.203	.	122	Q8NGG0	OR8J3_HUMAN	C	122	ENSP00000301529:R122C	ENSP00000301529:R122C	R	-	1	0	OR8J3	55661407	1.000000	0.71417	0.981000	0.43875	0.828000	0.46876	2.411000	0.44600	1.548000	0.49413	0.289000	0.19496	CGC		0.502	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		A	55904831	G	A	55904831	3	1	32	1	0	0	0	0	1	0	0	0	11242	1116	39	2	585	2	OR8J3	11	55904831	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	245917	55904831	79101685	38	1968											
OR5A1	219982	broad.mit.edu	37	chr11	59210873	59210873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgacatctgctactctTctgctgtggctcccaatatg	7	15	7	12	0	4	1	1	1	3	0	5	1	5	1	1	1	3	3	1	1	3	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:59210873T>C	ENST00000302030.2	+	1	257	c.232T>C	c.(232-234)Tct>Cct	p.S78P		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGCTACTCTTCTGCTGTGGC	0.468																																						uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(232-234)Tct>Cct		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							135	131	132					11																	59210873		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210873T>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.232T>C	11.37:g.59210873T>C	ENSP00000303096:p.Ser78Pro						p.S78P	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	232	+			78					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.232T>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837547	0.71373	.	.	ENSG00000172320	ENST00000302030	T	0.00408	7.54	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.01730	0.0055	M	0.91717	3.235	0.46749	D	0.999181	D	0.89917	1.0	D	0.91635	0.999	T	0.46748	-0.9169	10	0.87932	D	0	-43.0024	14.9145	0.70785	0.0:0.0:0.0:1.0	.	78	Q8NGJ0	OR5A1_HUMAN	P	78	ENSP00000303096:S78P	ENSP00000303096:S78P	S	+	1	0	OR5A1	58967449	0.016000	0.18221	0.896000	0.35187	0.926000	0.56050	0.166000	0.16583	2.195000	0.70347	0.528000	0.53228	TCT		0.468	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		C	59210873	T	C	59210873	3	2	32	1	0	0	0	0	1	0	0	0	11139	1783	62	4	234	4	OR5A1	11	59210873	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	3306042	59210873	75795643	39	1969											
CDC42BPG	55561	broad.mit.edu	37	chr11	64607007	64607007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaggcgaatgtgcccGttcacatccagcaggacgtt	9	8	11	13	3	2	0	2	0	0	0	3	2	3	1	3	2	3	3	3	2	1	2	rs141134240		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:64607007G>A	ENST00000342711.5	-	6	617	c.618C>T	c.(616-618)aaC>aaT	p.N206N		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GAATGTGCCCGTTCACATCCA	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		24069	0		0	False		,,,				2504	0					uc001obs.4																			0				central_nervous_system(1)|lung(3)	4						c.(616-618)aaC>aaT		Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.		G		6,4392	11.4+/-27.6	0,6,2193	133	87	103		618	-7.3	0.9	11	dbSNP_134	103	0,8592		0,0,4296	no	coding-synonymous	CDC42BPG	NM_017525.2		0,6,6489	AA,AG,GG		0.0,0.1364,0.0462		206/1552	64607007	6,12984	2199	4296	6495	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64607007G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.618C>T	11.37:g.64607007G>A							p.N206N	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			5	618	-			206			Protein kinase.			Silent	SNP	ENST00000342711.5	37	c.618C>T	CCDS31601.1																																																																																				0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		A	64607007	G	A	64607007	2	1	32	1	0	0	0	0	0	0	0	1	3074	1136	40	1		1	CDC42BPG	11	64607007	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	5396134	64607007	70399509	40	1970											
UVRAG	7405	broad.mit.edu	37	chr11	75718654	75718654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagctttcctacatttacCctattgatttggtaagtttc	8	18	6	9	0	0	2	0	2	0	0	2	2	1	2	2	1	3	3	2	1	4	9			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:75718654C>G	ENST00000356136.3	+	10	1229	c.988C>G	c.(988-990)Cct>Gct	p.P330A	UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.P229A|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	330					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTACATTTACCCTATTGATTT	0.318																																						uc001oxc.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(988-990)Cct>Gct		Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.							105	102	103					11																	75718654		2199	4292	6491	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75718654C>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.988C>G	11.37:g.75718654C>G	ENSP00000348455:p.Pro330Ala					UVRAG_uc010rrw.2_Missense_Mutation_p.P229A|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	p.P330A	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			9	1229	+			330					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.988C>G	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592551	0.86953	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.34667	1.35;1.35	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72564	-0.4255	10	0.72032	D	0.01	-16.4854	18.8715	0.92317	0.0:1.0:0.0:0.0	.	330	Q9P2Y5	UVRAG_HUMAN	A	330;229	ENSP00000348455:P330A;ENSP00000436039:P229A	ENSP00000348455:P330A	P	+	1	0	UVRAG	75396302	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.363000	0.66104	2.937000	0.99478	0.650000	0.86243	CCT		0.318	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		G	75718654	C	G	75718654	3	3	32	1	0	0	0	0	1	0	0	0	17105	623	22	5	1026	5	UVRAG	11	75718654	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	11111647	75718654	59287862	41	1971											
RNF17	56163	broad.mit.edu	37	chr13	25367336	25367336	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacctcctttgcaaccTgagacaaatgatgtacattt	12	11	5	13	0	0	2	0	2	0	1	1	3	1	2	5	0	3	2	5	0	3	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:25367336T>C	ENST00000255324.5	+	10	1144	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	RNF17_ENST00000381921.1_Silent_p.P364P|RNF17_ENST00000255325.6_Silent_p.P364P|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	364					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTGCAACCTGAGACAAATG	0.428																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(1090-1092)ccT>ccC		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							176	164	168					13																	25367336		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25367336T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1092T>C	13.37:g.25367336T>C						RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010tde.2_Silent_p.P364P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	p.P364P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	9	1133	+		Lung SC(185;0.0225)|Breast(139;0.077)	364					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.1092T>C	CCDS9308.2																																																																																				0.428	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25367336	T	C	25367336	2	2	32	1	0	0	0	0	0	0	0	1	13461	1567	55	4		4	RNF17	13	25367336	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		25367336	89802542	42	1972											
TRPC4	7223	broad.mit.edu	37	chr13	38237609	38237609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttgcaggttaaccctttCgtttcttcataatagaagta	10	16	6	9	1	2	1	1	0	1	1	3	1	2	1	2	1	2	4	2	1	5	8	rs540496931		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:38237609C>T	ENST00000379705.3	-	6	2489	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_ENST00000379673.2_Silent_p.T544T|TRPC4_ENST00000358477.2_Silent_p.T544T|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Silent_p.T371T|TRPC4_ENST00000447043.1_Silent_p.T544T|TRPC4_ENST00000379681.3_Silent_p.T544T|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Silent_p.T544T|TRPC4_ENST00000338947.5_Silent_p.T371T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	544					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348													C|||	1	0.000199681	0	0	5008	,	,		19333	0		0	False		,,,				2504	0.001					uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1630-1632)acG>acA		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							78	75	76					13																	38237609		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237609C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1632G>A	13.37:g.38237609C>T						TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	5	1867	-			544					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.1632G>A	CCDS9365.1																																																																																				0.348	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		T	38237609	C	T	38237609	2	4	32	1	0	0	0	0	0	0	0	1	16577	871	31	2		2	TRPC4	13	38237609	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	12870273	38237609	76932269	43	1973											
COL4A1	1282	broad.mit.edu	37	chr13	110855947	110855947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaggacctgcttcacccTtttctccctacaaaagaaaa	13	9	6	13	0	2	1	1	0	1	1	3	3	2	3	3	2	2	1	3	2	5	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:110855947T>C	ENST00000375820.4	-	18	1086	c.965A>G	c.(964-966)aAg>aGg	p.K322R	COL4A1_ENST00000543140.1_Missense_Mutation_p.K322R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	322	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCTTCACCCTTTTCTCCCTA	0.453																																						uc001vqw.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(964-966)aAg>aGg		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							127	130	129					13																	110855947		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110855947T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.965A>G	13.37:g.110855947T>C	ENSP00000364979:p.Lys322Arg						p.K322R	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		17	1087	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	322			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.965A>G	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467400	0.26335	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.93659	-3.26;-3.26	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000002	D	0.91673	0.7368	N	0.05330	-0.07	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.91333	0.5091	10	0.30078	T	0.28	.	14.3055	0.66382	0.0:0.0:0.0:1.0	.	322	P02462	CO4A1_HUMAN	R	322	ENSP00000364979:K322R;ENSP00000443348:K322R	ENSP00000364979:K322R	K	-	2	0	COL4A1	109653948	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	5.341000	0.65964	1.925000	0.55765	0.372000	0.22366	AAG		0.453	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			C	110855947	T	C	110855947	3	2	32	1	0	0	0	0	1	0	0	0	3689	1609	56	4	4184	4	COL4A1	13	110855947	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	72618338	110855947	4313931	44	1974											
MAP3K9	4293	broad.mit.edu	37	chr14	71209191	71209191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgatgttgagctcccGttccaggatgtcaatctccc	8	12	10	11	1	2	3	1	3	1	0	5	5	4	4	3	1	1	3	3	1	1	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr14:71209191G>A	ENST00000554752.2	-	6	1443	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R176W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R482W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R219W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R482W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	482	Leucine-zipper 2.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGAGCTCCCGTTCCAGGATG	0.617																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1444-1446)Cgg>Tgg		Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.							83	72	76					14																	71209191		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209191G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1444C>T	14.37:g.71209191G>A	ENSP00000451612:p.Arg482Trp					MAP3K9_uc010ttk.2_Missense_Mutation_p.R219W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R176W|MAP3K9_uc001xml.3_Missense_Mutation_p.R482W	p.R482W	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1444	-			482			Leucine-zipper 2.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1444C>T		.	.	.	.	.	.	.	.	.	.	G	14.85	2.657936	0.47467	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	6.06	4.04	0.47022	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90055	0.6894	M	0.75085	2.285	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.71656	0.974;0.943;0.974;0.964	D	0.91148	0.4951	10	0.56958	D	0.05	.	15.8058	0.78506	0.0:0.0:0.6895:0.3105	.	219;482;482;176	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	482;482;176;482;219;210	ENSP00000451612:R482W;ENSP00000451038:R176W;ENSP00000370649:R482W;ENSP00000451921:R219W	ENSP00000005198:R482W	R	-	1	2	MAP3K9	70278944	0.931000	0.31567	0.269000	0.24586	0.135000	0.20990	0.992000	0.29667	1.550000	0.49438	0.655000	0.94253	CGG		0.617	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			A	71209191	G	A	71209191	3	1	32	1	0	0	0	0	1	0	0	0	9257	1144	40	1	1944	1	MAP3K9	14	71209191	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08		71209191	36140349	45	1975											
EPB42	2038	broad.mit.edu	37	chr15	43499445	43499445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcgcagcggtcactgcCcacacccttggtgctgatgt	5	10	11	15	2	1	1	1	1	0	0	3	1	2	1	3	2	3	2	3	2	0	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:43499445C>A	ENST00000441366.2	-	9	1495	c.1270G>T	c.(1270-1272)Ggc>Tgc	p.G424C	EPB42_ENST00000540029.1_Missense_Mutation_p.G346C|EPB42_ENST00000300215.3_Missense_Mutation_p.G454C|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	424					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGTCACTGCCCACACCCTTG	0.552																																						uc001zrb.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1360-1362)Ggc>Tgc		Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.							132	93	106					15																	43499445		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43499445C>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1270G>T	15.37:g.43499445C>A	ENSP00000396616:p.Gly424Cys					EPB42_uc001zqz.4_Missense_Mutation_p.G91C|EPB42_uc001zra.4_Missense_Mutation_p.G424C|EPB42_uc010udm.2_Missense_Mutation_p.G346C	p.G454C	NM_000119	NP_000110	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	8	1660	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	424					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1360G>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010254	0.75046	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.56275	0.47;0.47;0.47	6.02	5.1	0.69264	.	0.156705	0.56097	D	0.000025	T	0.77948	0.4207	M	0.91510	3.215	0.45427	D	0.9984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.984;0.982;0.997;0.982	D	0.83543	0.0097	10	0.87932	D	0	-8.1132	14.4921	0.67657	0.148:0.852:0.0:0.0	.	346;424;454;424	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	C	454;346;424;352	ENSP00000300215:G454C;ENSP00000444699:G346C;ENSP00000396616:G424C	ENSP00000300215:G454C	G	-	1	0	EPB42	41286737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.268000	0.43338	1.535000	0.49220	0.650000	0.86243	GGC		0.552	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		A	43499445	C	A	43499445	3	1	32	1	0	0	0	0	1	0	0	0	5158	623	22	5	825	5	EPB42	15	43499445	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		43499445	59031947	46	1976											
SMAD3	4088	broad.mit.edu	37	chr15	67457245	67457245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcaggtccctggatggCcggttgcaggtgtcccatcg	4	9	15	13	2	0	0	0	0	0	0	3	1	2	1	4	6	1	3	4	6	0	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:67457245C>T	ENST00000327367.4	+	2	529	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SMAD3_ENST00000439724.3_Silent_p.G29G|SMAD3_ENST00000540846.2_5'UTR|SMAD3_ENST00000559092.1_Missense_Mutation_p.A55V|SMAD3_ENST00000537194.2_5'Flank	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	73	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCCTGGATGGCCGGTTGCAGG	0.612																																						uc002aqj.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(217-219)ggC>ggT		Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.							145	162	157					15																	67457245		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67457245C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.219C>T	15.37:g.67457245C>T						SMAD3_uc010ujr.2_5'UTR|SMAD3_uc010ujs.2_Silent_p.G29G|SMAD3_uc010ujt.2_5'Flank	p.G73G	NM_005902	NP_001138576	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	1	517	+			73			MH1.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.219C>T	CCDS10222.1																																																																																				0.612	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		T	67457245	C	T	67457245	2	4	32	1	0	0	0	0	0	0	0	1	14759	726	26	3		3	SMAD3	15	67457245	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	23957800	67457245	35074147	47	1977											
CACNA1G	8913	broad.mit.edu	37	chr17	48697121	48697121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgatggacgagctGgcaggcccagggggccagcc	8	4	17	12	1	0	2	0	2	0	0	0	4	0	3	3	5	3	3	3	5	1	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr17:48697121G>A	ENST00000359106.5	+	34	5859	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L	CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Silent_p.L1908L|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.L1942L|CACNA1G_ENST00000510115.1_Silent_p.L1919L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515411.1_Silent_p.L1935L|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000354983.4_Silent_p.L1919L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515765.1_Silent_p.L1942L|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507510.2_Silent_p.L1953L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1953					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGACGAGCTGGCAGGCCCAG	0.667																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5857-5859)ctG>ctA		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19	24	22					17																	48697121		1945	4138	6083	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48697121G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5859G>A	17.37:g.48697121G>A						CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L	p.L1953L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6231	+	Breast(11;6.7e-17)		1953					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.5859G>A	CCDS45730.1																																																																																				0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48697121	G	A	48697121	2	1	32	1	0	0	0	0	0	0	0	1	2544	1335	47	3		3	CACNA1G	17	48697121	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		48697121	32498089	48	1978											
KIAA0427	9811	broad.mit.edu	37	chr18	46385757	46385757	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaacagctgcctgagAtgatgacagagctcctggcc	10	7	14	10	0	0	4	0	3	0	2	1	7	1	6	3	3	4	2	3	3	1	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr18:46385757A>G	ENST00000256413.3	+	12	1919	c.1624A>G	c.(1624-1626)Atg>Gtg	p.M542V	CTIF_ENST00000382998.4_Missense_Mutation_p.M544V	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	542	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCTGCCTGAGATGATGACAGA	0.637																																						uc002ldd.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1630-1632)Atg>Gtg		Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.							76	75	75					18																	46385757		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46385757A>G	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1624A>G	18.37:g.46385757A>G	ENSP00000256413:p.Met542Val					CTIF_uc002ldc.3_Missense_Mutation_p.M542V|CTIF_uc002lde.4_Missense_Mutation_p.M171V	p.M544V	NM_001142397	NP_001135869	O43310	CTIF_HUMAN			12	1989	+			542			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1630A>G	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205605	0.39003	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.21734	1.99;1.99	5.07	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.51422	1.61	0.49051	D	0.999746	B;B	0.31125	0.137;0.309	B;B	0.31946	0.085;0.138	T	0.03394	-1.1041	10	0.39692	T	0.17	-26.7577	10.435	0.44430	0.854:0.0:0.0:0.146	.	544;542	O43310-2;O43310	.;CTIF_HUMAN	V	542;544;494	ENSP00000256413:M542V;ENSP00000372459:M544V	ENSP00000256413:M542V	M	+	1	0	CTIF	44639755	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.225000	0.72271	1.929000	0.55896	0.459000	0.35465	ATG		0.637	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		G	46385757	A	G	46385757	3	3	32	1	0	0	0	0	1	0	0	0	8176	333	12	4	1672	4	KIAA0427	18	46385757	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		46385757	31691491	49	1979											
DNMT1	1786	broad.mit.edu	37	chr19	10254528	10254528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagatctctttgatccgGccaattcggtagggctcagg	9	10	12	10	2	2	3	1	1	1	2	5	3	3	3	2	4	0	2	2	4	3	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:10254528G>A	ENST00000340748.4	-	28	3217	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_ENST00000540357.1_Silent_p.G994G|DNMT1_ENST00000359526.4_Silent_p.G1010G|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	994	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542																																						uc002mng.3																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2980-2982)ggC>ggT		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						254	241	245					19																	10254528		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10254528G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2982C>T	19.37:g.10254528G>A						DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Silent_p.G1010G|DNMT1_uc002mnh.3_Silent_p.G889G|DNMT1_uc010xld.2_Silent_p.G994G	p.G994G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		27	3162	-			994			BAH 2.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.2982C>T	CCDS12228.1																																																																																				0.542	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		A	10254528	G	A	10254528	2	1	32	1	0	0	0	0	0	0	0	1	4675	1190	42	3		3	DNMT1	19	10254528	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		10254528	48874455	50	1980											
CRLF1	9244	broad.mit.edu	37	chr19	18710416	18710416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggatgctgccgtcaCgggcgtggcacacgaggttg	7	6	16	12	4	1	0	1	0	0	0	1	2	1	1	2	4	3	3	2	4	0	1	rs146027258		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:18710416C>T	ENST00000392386.3	-	2	549	c.356G>A	c.(355-357)cGt>cAt	p.R119H		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	119	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R119H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCTGCCGTCACGGGCGTGGCA	0.652													C|||	1	0.000199681	0	0	5008	,	,		16916	0		0.001	False		,,,				2504	0					uc010ebt.2																			1	Substitution - Missense(1)	p.R119H(2)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(355-357)cGt>cAt		Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.		C	HIS/ARG	1,4403		0,1,2201	34	34	34		356	-1.3	0.1	19	dbSNP_134	34	12,8588		0,12,4288	yes	missense	CRLF1	NM_004750.4	29	0,13,6489	TT,TC,CC		0.1395,0.0227,0.1	benign	119/423	18710416	13,12991	2202	4300	6502	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710416C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.356G>A	19.37:g.18710416C>T	ENSP00000376188:p.Arg119His						p.R119H	NM_004750	NP_004741	O75462	CRLF1_HUMAN			1	550	-			119			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.356G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	9.691	1.151897	0.21371	2.27E-4	0.001395	ENSG00000006016	ENST00000392386	D	0.86030	-2.06	5.23	-1.29	0.09288	Immunoglobulin-like fold (1);	0.681186	0.15402	N	0.264279	T	0.60508	0.2274	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50474	-0.8824	10	0.22109	T	0.4	-5.7136	5.0552	0.14529	0.0:0.4249:0.2632:0.3119	.	119	O75462	CRLF1_HUMAN	H	119	ENSP00000376188:R119H	ENSP00000376188:R119H	R	-	2	0	CRLF1	18571416	0.001000	0.12720	0.145000	0.22337	0.529000	0.34654	-0.088000	0.11198	0.195000	0.20347	0.511000	0.50034	CGT		0.652	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			T	18710416	C	T	18710416	3	4	32	1	0	0	0	0	1	0	0	0	3886	536	19	1	944	1	CRLF1	19	18710416	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	8455888	18710416	40418567	51	1981											
FOSB	2354	broad.mit.edu	37	chr19	45973902	45973902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggagtgcgccggtctcGgggaaatgcccggttccttc	5	9	15	12	5	1	0	0	0	1	0	4	2	2	2	3	5	2	2	3	5	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:45973902G>A	ENST00000353609.3	+	2	734	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	FOSB_ENST00000586615.1_5'UTR|FOSB_ENST00000592436.1_Missense_Mutation_p.G48R|FOSB_ENST00000592811.1_5'UTR|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000590335.1_Missense_Mutation_p.G48R|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000417353.2_Missense_Mutation_p.G48R|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	48					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCGGTCTCGGGGAAATGCC	0.582																																						uc002pbx.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13						c.(142-144)Ggg>Agg		Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.							119	126	123					19																	45973902		2203	4300	6503	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45973902G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.142G>A	19.37:g.45973902G>A	ENSP00000245919:p.Gly48Arg					ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010eke.3_Intron|FOSB_uc002pby.4_Missense_Mutation_p.G48R|FOSB_uc010ekf.3_Intron|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_5'UTR	p.G48R	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	1	734	+		Ovarian(192;0.051)|all_neural(266;0.112)	48					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.142G>A	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489243	0.64074	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928	T;T	0.42513	0.97;0.97	4.39	4.39	0.52855	.	0.121669	0.56097	D	0.000033	T	0.31071	0.0785	L	0.44542	1.39	0.80722	D	1	P;B;P	0.42649	0.786;0.313;0.786	B;B;B	0.36766	0.106;0.012;0.232	T	0.07809	-1.0753	10	0.37606	T	0.19	-6.4664	9.6828	0.40080	0.0:0.0:0.7928:0.2072	.	48;48;48	E9PHJ3;P53539;A8VJE1	.;FOSB_HUMAN;.	R	48	ENSP00000245919:G48R;ENSP00000407207:G48R	ENSP00000245919:G48R	G	+	1	0	FOSB	50665742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.656000	0.54467	2.289000	0.77006	0.561000	0.74099	GGG		0.582	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		A	45973902	G	A	45973902	3	1	32	1	0	0	0	0	1	0	0	0	5986	1116	39	2	148	2	FOSB	19	45973902	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	27263486	45973902	13155081	52	1982											
PNMAL2	57469	broad.mit.edu	37	chr19	46997949	46997949	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgatttgtcggtgacGgtgaccagagccaagaactc	9	11	11	10	3	1	4	0	2	1	2	4	5	1	4	2	2	2	0	2	2	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:46997949G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Silent_p.T258T|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.T20T			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGTCGGTGACGGTGACCAGAG	0.602																																						uc002pes.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(772-774)acC>acT		Homo sapiens PNMA-like 2 (PNMAL2), mRNA.							72	62	65					19																	46997949		2203	4300	6503	SO:0001627	intron_variant	57469							g.chr19:46997949G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+39C>T	19.37:g.46997949G>A						LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.T20T	p.T258T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	0	1221	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	258					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.774C>T																																																																																					0.602	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		A	46997949	G	A	46997949	1	1	32	0	1	0	0	0	0	0	0	0	12158	1103	39	2		2	PNMAL2	19	46997949	Intron	SNP	G	TCGA-06-0168-01A-01D-1491-08	1024047	46997949	12131034	53	1983											
DHX34	9704	broad.mit.edu	37	chr19	47883014	47883014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaccaatggtgactgctcCcgcctggtggccgatggctg	6	8	14	13	2	0	1	0	1	0	0	1	3	1	1	4	4	1	2	4	4	1	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:47883014C>T	ENST00000328771.4	+	14	3103	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	918					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGACTGCTCCCGCCTGGTGG	0.627																																						uc010xyn.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2752-2754)tcC>tcT		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.							80	72	75					19																	47883014		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883014C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2754C>T	19.37:g.47883014C>T						DHX34_uc010xyo.1_Silent_p.S47S	p.S918S	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	13	3103	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	918					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2754C>T	CCDS12700.1																																																																																				0.627	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47883014	C	T	47883014	2	4	32	1	0	0	0	0	0	0	0	1	4507	610	22	3		3	DHX34	19	47883014	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	885065	47883014	11245969	54	1984											
GPRASP2	114928	broad.mit.edu	37	chrX	101972203	101972203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtccttaattgatgatgaTttcagtcttgagccgcttat	9	17	8	7	1	2	4	1	4	1	0	3	4	3	4	2	0	1	1	2	0	2	5			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chrX:101972203T>C	ENST00000535209.1	+	4	3237	c.2406T>C	c.(2404-2406)gaT>gaC	p.D802D	GPRASP2_ENST00000543253.1_Silent_p.D802D|GPRASP2_ENST00000332262.5_Silent_p.D802D			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	802						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTGATGATGATTTCAGTCTTG	0.333																																						uc022cbh.1																			0											c.(2404-2406)gaT>gaC		Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.							123	131	128					X																	101972203		2202	4294	6496	SO:0001819	synonymous_variant	114928					cytoplasm	protein binding	g.chrX:101972203T>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2406T>C	X.37:g.101972203T>C						ARMCX5-GPRASP2_uc022cay.1_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.D802D	p.D802D	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN			0	2406	+			802					D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.2406T>C	CCDS14501.1																																																																																				0.333	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		C	101972203	T	C	101972203	2	2	32	1	0	0	0	0	0	0	0	1	6723	1490	52	4		4	GPRASP2	23	101972203	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		101972203	53298357	55	1985											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836029	12836029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccaggaggtggaagtgTgctgcccgtgggagctgtcc	6	9	17	9	1	0	0	0	0	0	0	2	3	2	3	3	4	3	3	3	4	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:12836029T>C	ENST00000357726.4	+	2	658	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	211					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAAGTGTGCTGCCCGTG	0.517																																						uc001aui.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(631-633)Tgc>Cgc		Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.							167	173	171					1																	12836029		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12836029T>C		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.631T>C	1.37:g.12836029T>C	ENSP00000350358:p.Cys211Arg						p.C211R	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	658	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	211						Missense_Mutation	SNP	ENST00000357726.4	37	c.631T>C	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	5.754	0.323614	0.10900	.	.	ENSG00000116726	ENST00000357726	T	0.00840	5.63	2.8	-5.57	0.02521	.	1.371460	0.04478	N	0.377252	T	0.00815	0.0027	L	0.33189	0.99	0.09310	N	0.999999	P	0.37781	0.608	B	0.39119	0.291	T	0.42616	-0.9441	10	0.21540	T	0.41	.	0.6928	0.00894	0.2088:0.1989:0.1455:0.4467	.	211	O95522	PRA12_HUMAN	R	211	ENSP00000350358:C211R	ENSP00000350358:C211R	C	+	1	0	PRAMEF12	12758616	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.092000	0.01354	-1.236000	0.02542	0.260000	0.18958	TGC		0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		C	12836029	T	C	12836029	3	2	33	1	0	0	0	0	1	0	0	0	12428	1696	59	4	637	4	PRAMEF12	1	12836029	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		12836029	236414592	1	1986											
SGIP1	84251	broad.mit.edu	37	chr1	67133216	67133216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgctgatcacagaggCgcagcccggtaagaactctc	9	10	10	12	2	2	3	1	1	1	2	3	3	2	3	1	2	3	3	1	2	2	3	rs556202457		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:67133216C>T	ENST00000371037.4	+	9	552	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.R163C|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Missense_Mutation_p.R116C|SGIP1_ENST00000371036.3_Intron|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	159					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCACAGAGGCGCAGCCCGGT	0.418													C|||	1	0.000199681	8e-04	0	5008	,	,		20755	0		0	False		,,,				2504	0					uc001dcr.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(475-477)Cgc>Tgc		Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.							166	169	168					1																	67133216		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67133216C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.475C>T	1.37:g.67133216C>T	ENSP00000360076:p.Arg159Cys					SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|AK298300_uc010ope.1_Intron	p.R159C	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			8	692	+			159					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.475C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616176	0.66672	.	.	ENSG00000118473	ENST00000237247;ENST00000371035;ENST00000371037	T;T;T	0.03301	3.98;3.98;3.98	6.01	6.01	0.97437	.	6.337000	0.00166	N	0.000000	T	0.10337	0.0253	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.01998	-1.1232	10	0.51188	T	0.08	14.6874	18.015	0.89236	0.0:1.0:0.0:0.0	.	159	Q9BQI5	SGIP1_HUMAN	C	163;116;159	ENSP00000237247:R163C;ENSP00000360074:R116C;ENSP00000360076:R159C	ENSP00000237247:R163C	R	+	1	0	SGIP1	66905804	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.631000	0.67812	2.861000	0.98227	0.650000	0.86243	CGC		0.418	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		T	67133216	C	T	67133216	3	4	33	1	0	0	0	0	1	0	0	0	14206	768	27	1	509	1	SGIP1	1	67133216	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	54297187	67133216	182117405	2	1987											
GBP1	2633	broad.mit.edu	37	chr1	89521850	89521850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagtaaagctgagcaaCgatctgatgatgcttcctga	12	10	10	9	1	1	5	0	5	1	0	2	6	2	5	2	0	4	4	2	0	4	2	rs140785577		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:89521850C>T	ENST00000370473.4	-	8	1436	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	406					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGCTGAGCAACGATCTGATGA	0.408													.|||	1	0.000199681	0	0	5008	,	,		19883	0.001		0	False		,,,				2504	0					uc001dmx.2																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(1216-1218)cGt>cAt		Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.		C	HIS/ARG	0,4406		0,0,2203	111	116	114		1217	-0.4	0.4	1	dbSNP_134	114	1,8593	1.2+/-3.3	0,1,4296	no	missense	GBP1	NM_002053.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	406/593	89521850	1,12999	2203	4297	6500	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89521850C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1217G>A	1.37:g.89521850C>T	ENSP00000359504:p.Arg406His						p.R406H	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	7	1437	-		Lung NSC(277;0.123)	406					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.1217G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	1.235	-0.623102	0.03636	0.0	1.16E-4	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02121	4.44	4.8	-0.42	0.12336	Guanylate-binding protein, C-terminal (3);	0.547236	0.19886	N	0.103855	T	0.00552	0.0018	N	0.26092	0.79	0.09310	N	1	B	0.19583	0.037	B	0.17098	0.017	T	0.44952	-0.9294	10	0.20519	T	0.43	.	8.0634	0.30646	0.0:0.4479:0.0:0.5521	.	406	P32455	GBP1_HUMAN	H	406;369	ENSP00000359504:R406H	ENSP00000359504:R406H	R	-	2	0	GBP1	89294438	0.000000	0.05858	0.377000	0.26055	0.005000	0.04900	-0.983000	0.03759	0.112000	0.17975	-0.339000	0.08088	CGT		0.408	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		T	89521850	C	T	89521850	3	4	33	1	0	0	0	0	1	0	0	0	6273	536	19	1	577	1	GBP1	1	89521850	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	22388634	89521850	159728771	3	1988											
HRNR	388697	broad.mit.edu	37	chr1	152188002	152188002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggaagactgacctgagcTagctccatgttggccacagc	9	8	12	12	0	0	3	0	2	0	1	1	4	1	4	3	2	3	4	3	2	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:152188002T>C	ENST00000368801.2	-	3	6178	c.6103A>G	c.(6103-6105)Agc>Ggc	p.S2035G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2035					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6103-6105)Agc>Ggc		Homo sapiens hornerin (HRNR), mRNA.							198	288	257					1																	152188002		2152	4138	6290	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188002T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6103A>G	1.37:g.152188002T>C	ENSP00000357791:p.Ser2035Gly						p.S2035G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2035					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6103A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	7.476	0.647697	0.14516	.	.	ENSG00000197915	ENST00000368801	T	0.01629	4.72	4.31	-8.61	0.00885	.	.	.	.	.	T	0.00356	0.0011	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47824	-0.9087	9	0.11485	T	0.65	.	10.6506	0.45647	0.0:0.2531:0.0952:0.6518	.	2035	Q86YZ3	HORN_HUMAN	G	2035	ENSP00000357791:S2035G	ENSP00000357791:S2035G	S	-	1	0	HRNR	150454626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.555000	0.02170	-2.372000	0.00601	-0.975000	0.02590	AGC		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		C	152188002	T	C	152188002	3	2	33	1	0	0	0	0	1	0	0	0	7359	1522	53	4	2453	4	HRNR	1	152188002	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	62666152	152188002	97062619	4	1989											
BCAN	63827	broad.mit.edu	37	chr1	156617796	156617796	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccatccagaccccacgAgaggcctgttacggagacat	11	7	9	14	2	0	3	0	0	0	3	2	5	2	3	5	2	1	1	5	2	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:156617796A>G	ENST00000329117.5	+	5	999	c.663A>G	c.(661-663)cgA>cgG	p.R221R	BCAN_ENST00000361588.5_Silent_p.R221R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	221	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCCACGAGAGGCCTGTT	0.532																																						uc001fpp.3																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(661-663)cgA>cgG		Homo sapiens brevican (BCAN), transcript variant 1, mRNA.							113	114	114					1																	156617796		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617796A>G	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.663A>G	1.37:g.156617796A>G						BCAN_uc001fpo.3_Silent_p.R221R	p.R221R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	999	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		221			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.663A>G	CCDS1149.1																																																																																				0.532	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156617796	A	G	156617796	2	3	33	1	0	0	0	0	0	0	0	1	1345	291	11	4		4	BCAN	1	156617796	Silent	SNP	A	TCGA-06-0169-01A-01D-1490-08	4429794	156617796	92632825	5	1990											
PYHIN1	149628	broad.mit.edu	37	chr1	158914718	158914718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggagcatggcactaccCcaggaacagagtcagcatcc	12	5	10	14	0	1	1	1	0	0	1	3	3	3	3	4	3	4	3	4	3	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:158914718C>A	ENST00000368140.1	+	7	1490	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.P406P|PYHIN1_ENST00000392254.2_Silent_p.P415P|PYHIN1_ENST00000392252.3_Silent_p.P406P	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	415					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGGCACTACCCCAGGAACAGA	0.433																																						uc001ftb.3																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1243-1245)ccC>ccA		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							104	100	101					1																	158914718		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158914718C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1245C>A	1.37:g.158914718C>A						PYHIN1_uc001ftc.3_Silent_p.P406P|PYHIN1_uc001ftd.3_Silent_p.P415P|PYHIN1_uc001fte.3_Silent_p.P406P	p.P415P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			6	1495	+	all_hematologic(112;0.0378)		415					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.1245C>A	CCDS1178.1																																																																																				0.433	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		A	158914718	C	A	158914718	2	1	33	1	0	0	0	0	0	0	0	1	12865	610	22	5		5	PYHIN1	1	158914718	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	2296922	158914718	90335903	6	1991											
OR2T6	254879	broad.mit.edu	37	chr1	248551593	248551593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcacagtgcatcagatGacatcggctgaagggaggaa	13	7	12	9	1	3	3	3	2	0	1	4	5	3	5	0	3	1	2	0	3	2	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:248551593G>T	ENST00000355728.2	+	1	684	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M228I(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCATCAGATGACATCGGCTG	0.502																																						uc001iei.1																			1	Substitution - Missense(1)	p.M228I(2)	lung(1)	endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(682-684)atG>atT		Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.							295	233	254					1																	248551593		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551593G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.684G>T	1.37:g.248551593G>T	ENSP00000347965:p.Met228Ile						p.M228I	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	684	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.684G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130818	0.06753	.	.	ENSG00000198104	ENST00000355728	T	0.00021	9.03	4.02	0.734	0.18294	GPCR, rhodopsin-like superfamily (1);	0.232740	0.30879	N	0.008699	T	0.00073	0.0002	N	0.17345	0.48	0.09310	N	1	B	0.20988	0.05	B	0.26310	0.068	T	0.30475	-0.9977	10	0.54805	T	0.06	.	2.4735	0.04570	0.1707:0.2655:0.4284:0.1354	.	228	Q8NHC8	OR2T6_HUMAN	I	228	ENSP00000347965:M228I	ENSP00000347965:M228I	M	+	3	0	OR2T6	246618216	0.000000	0.05858	0.071000	0.20095	0.021000	0.10359	-1.541000	0.02198	0.438000	0.26450	0.643000	0.83706	ATG		0.502	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		T	248551593	G	T	248551593	3	4	33	1	0	0	0	0	1	0	0	0	11029	1290	45	5	686	5	OR2T6	1	248551593	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	89636875	248551593	699028	7	1992											
ANKRD53	79998	broad.mit.edu	37	chr2	71209104	71209104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgcccctgcacctggcagCccgtgacggcttgctggact	5	7	12	17	3	0	1	0	1	0	0	0	2	0	2	4	3	3	4	4	3	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71209104C>T	ENST00000360589.3	+	4	690	c.656C>T	c.(655-657)gCc>gTc	p.A219V	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.A185V|ANKRD53_ENST00000272421.6_Missense_Mutation_p.A219V	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	219										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTGGCAGCCCGTGACGGC	0.577																																						uc002shl.4																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(655-657)gCc>gTc		Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.							66	62	63					2																	71209104		2203	4300	6503	SO:0001583	missense	79998							g.chr2:71209104C>T	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.656C>T	2.37:g.71209104C>T	ENSP00000353796:p.Ala219Val					ANKRD53_uc002shk.4_Missense_Mutation_p.A219V	p.A219V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN			3	857	+			219					Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.656C>T	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043738	0.36085	.	.	ENSG00000144031	ENST00000272421;ENST00000457410;ENST00000360589	T;T;T	0.40225	1.04;1.04;1.04	5.47	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.497322	0.15798	N	0.244093	T	0.35885	0.0947	L	0.31804	0.96	0.24965	N	0.991709	B;B	0.22909	0.077;0.063	B;B	0.25884	0.064;0.062	T	0.25676	-1.0125	10	0.51188	T	0.08	-16.7193	15.5172	0.75833	0.0:0.9245:0.0:0.0755	.	219;219	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	V	219;185;219	ENSP00000272421:A219V;ENSP00000407004:A185V;ENSP00000353796:A219V	ENSP00000272421:A219V	A	+	2	0	ANKRD53	71062612	0.971000	0.33674	0.366000	0.25914	0.486000	0.33341	2.854000	0.48325	0.812000	0.34326	-1.134000	0.01955	GCC		0.577	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		T	71209104	C	T	71209104	3	4	33	1	0	0	0	0	1	0	0	0	679	739	26	3	670	3	ANKRD53	2	71209104	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		71209104	171990269	8	1993											
DYSF	8291	broad.mit.edu	37	chr2	71871138	71871138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcaaattctttgcctccaTaggggagagggaaaagtgcg	12	8	14	7	1	1	1	0	0	1	1	2	4	2	2	2	3	3	1	2	3	4	3	rs559940171		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71871138T>C	ENST00000258104.3	+	41	4731	c.4454T>C	c.(4453-4455)aTa>aCa	p.I1485T	DYSF_ENST00000409762.1_Missense_Mutation_p.I1502T|DYSF_ENST00000409744.1_Missense_Mutation_p.I1493T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.I1507T|DYSF_ENST00000410020.3_Missense_Mutation_p.I1524T|DYSF_ENST00000409582.3_Missense_Mutation_p.I1523T|DYSF_ENST00000394120.2_Missense_Mutation_p.I1486T|DYSF_ENST00000413539.2_Missense_Mutation_p.I1516T|DYSF_ENST00000429174.2_Missense_Mutation_p.I1506T|DYSF_ENST00000409651.1_Missense_Mutation_p.I1517T|DYSF_ENST00000410041.1_Missense_Mutation_p.I1503T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1485					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTGCCTCCATAGGGGAGAGG	0.502													T|||	1	0.000199681	0	0	5008	,	,		20127	0		0	False		,,,				2504	0.001					uc010fen.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4570-4572)aTa>aCa		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							98	77	84					2																	71871138		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71871138T>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4454T>C	2.37:g.71871138T>C	ENSP00000258104:p.Ile1485Thr					DYSF_uc010fei.3_Missense_Mutation_p.I1502T|DYSF_uc010feh.3_Missense_Mutation_p.I1492T|DYSF_uc002sig.4_Missense_Mutation_p.I1471T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I1516T|DYSF_uc010fee.3_Missense_Mutation_p.I1506T|DYSF_uc010fef.3_Missense_Mutation_p.I1523T|DYSF_uc002sie.3_Missense_Mutation_p.I1485T|DYSF_uc010feo.3_Missense_Mutation_p.I1517T|DYSF_uc010fej.3_Missense_Mutation_p.I1493T|DYSF_uc010fel.3_Missense_Mutation_p.I1472T|DYSF_uc010fem.3_Missense_Mutation_p.I1507T|DYSF_uc002sif.3_Missense_Mutation_p.I1486T|DYSF_uc010fek.3_Missense_Mutation_p.I1503T|DYSF_uc010yqy.2_Missense_Mutation_p.I366T|DYSF_uc010yqz.2_Missense_Mutation_p.I246T	p.I1524T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN			41	4712	+			1485					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4571T>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704137	0.15172	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.65;-1.65;-1.67;-1.67;-1.64;-1.65;-1.64;-1.67;-1.67;-1.68;-1.65	6.06	0.476	0.16779	.	0.685983	0.15579	N	0.255013	T	0.55752	0.1940	N	0.03029	-0.43	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.001	T	0.46345	-0.9198	10	0.02654	T	1	-1.076	9.7266	0.40335	0.0:0.3405:0.0:0.6595	.	249;1517;1524;1507;1472;1503;1493;1502;1492;1516;1523;1506;1471;1486;1485	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	1516;1502;1523;1506;1485;1517;1486;1493;1507;1524;1503	ENSP00000407046:I1516T;ENSP00000387137:I1502T;ENSP00000386547:I1523T;ENSP00000398305:I1506T;ENSP00000258104:I1485T;ENSP00000386683:I1517T;ENSP00000377678:I1486T;ENSP00000386285:I1493T;ENSP00000386512:I1507T;ENSP00000386881:I1524T;ENSP00000386617:I1503T	ENSP00000258104:I1485T	I	+	2	0	DYSF	71724646	0.000000	0.05858	0.004000	0.12327	0.899000	0.52679	-0.070000	0.11523	0.158000	0.19367	0.533000	0.62120	ATA		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		C	71871138	T	C	71871138	3	2	33	1	0	0	0	0	1	0	0	0	4859	1406	49	4	4875	4	DYSF	2	71871138	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	662034	71871138	171328235	9	1994											
FAM123C	205147	broad.mit.edu	37	chr2	131521578	131521578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccctgctcccagaaggagCctgggccaccaggggtcctg	6	5	15	15	0	0	1	0	0	0	1	2	2	2	2	6	5	2	1	6	5	1	0	rs548602521		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:131521578C>T	ENST00000423981.1	+	2	2043	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	AMER3_ENST00000321420.4_Missense_Mutation_p.P645S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	645					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCAGAAGGAGCCTGGGCCACC	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		16805	0		0	False		,,,				2504	0					uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1933-1935)Cct>Tct		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							26	29	28					2																	131521578		2201	4300	6501	SO:0001583	missense	205147							g.chr2:131521578C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1933C>T	2.37:g.131521578C>T	ENSP00000392700:p.Pro645Ser					FAM123C_uc002trw.2_Missense_Mutation_p.P645S|FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	p.P645S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1933	+	Colorectal(110;0.1)		645					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1933C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141678	0.21205	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.46819	0.86;0.86	3.79	-0.485	0.12067	.	1.857240	0.03470	N	0.213444	T	0.27241	0.0668	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.07009	-1.0795	10	0.14252	T	0.57	.	2.7836	0.05367	0.1743:0.3815:0.3403:0.1039	.	645	Q8N944	F123C_HUMAN	S	645	ENSP00000314914:P645S;ENSP00000392700:P645S	ENSP00000314914:P645S	P	+	1	0	FAM123C	131238048	0.001000	0.12720	0.001000	0.08648	0.150000	0.21749	0.317000	0.19487	-0.223000	0.09943	-0.521000	0.04368	CCT		0.602	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131521578	C	T	131521578	3	4	33	1	0	0	0	0	1	0	0	0	5424	739	26	3	1935	3	FAM123C	2	131521578	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	59650440	131521578	111677795	10	1995											
SCN9A	6335	broad.mit.edu	37	chr2	167085307	167085307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggcaaaacattcggaaCgatttggaacttgacttgca	14	10	10	7	2	0	1	0	1	0	0	1	4	0	3	0	3	4	2	0	3	5	5	rs200566017		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:167085307C>T	ENST00000409435.1	-	21	4099	c.4100G>A	c.(4099-4101)cGt>cAt	p.R1367H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1368H|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1356H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1368H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1367					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATTCGGAACGATTTGGAAC	0.398																																						uc010fpl.3																			2	Substitution - Missense(2)	p.R1356H(2)|p.R1356L(2)	lung(1)|prostate(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4066-4068)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)	C	HIS/ARG	0,4014		0,0,2007	230	231	231		4067	-0.3	0	2		231	2,8398		0,2,4198	no	missense	SCN9A	NM_002977.3	29	0,2,6205	TT,TC,CC		0.0238,0.0,0.0161	benign	1356/1978	167085307	2,12412	2007	4200	6207	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085307C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4100G>A	2.37:g.167085307C>T	ENSP00000386330:p.Arg1367His					BC051759_uc002udp.3_Intron	p.R1356H	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			21	4408	-			1367					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4067G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907332	0.33628	0.0	2.38E-4	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96073	-3.87;-3.9;-3.9;-3.9	5.23	-0.341	0.12639	.	1.282520	0.05251	N	0.514045	D	0.91818	0.7411	L	0.52266	1.64	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.78924	-0.2012	10	0.27785	T	0.31	.	4.0104	0.09619	0.1811:0.2568:0.0:0.5621	.	1356	E7EUN6	.	H	1356;1368;1368;1367	ENSP00000386306:R1356H;ENSP00000364536:R1368H;ENSP00000304748:R1368H;ENSP00000386330:R1367H	ENSP00000304748:R1368H	R	-	2	0	SCN9A	166793553	0.002000	0.14202	0.001000	0.08648	0.727000	0.41649	1.311000	0.33562	0.233000	0.21120	0.557000	0.71058	CGT		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167085307	C	T	167085307	3	4	33	1	0	0	0	0	1	0	0	0	13925	536	19	1	1890	1	SCN9A	2	167085307	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	35563729	167085307	76114066	11	1996											
HDLBP	3069	broad.mit.edu	37	chr2	242173290	242173290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcatgctccaaccggAtttgggtaattactgccccc	8	11	8	14	2	2	0	2	0	0	0	3	1	3	1	4	2	4	2	4	2	3	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:242173290A>G	ENST00000391975.1	-	24	3460	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	HDLBP_ENST00000391976.2_Missense_Mutation_p.I1078T|HDLBP_ENST00000427183.2_Missense_Mutation_p.I1045T|HDLBP_ENST00000310931.4_Missense_Mutation_p.I1078T	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1078	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCAACCGGATTTGGGTAAT	0.498																																						uc002waz.3																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3232-3234)aTc>aCc		Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.							184	163	171					2																	242173290		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242173290A>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3233T>C	2.37:g.242173290A>G	ENSP00000375836:p.Ile1078Thr					HDLBP_uc002wba.3_Missense_Mutation_p.I1078T|HDLBP_uc021vzg.1_Missense_Mutation_p.I1045T	p.I1078T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	23	3406	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1078			KH 13.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3233T>C	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079738	0.55753	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.29	5.29	0.74685	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.992	T	0.82090	-0.0629	10	0.87932	D	0	-19.9792	15.2442	0.73493	1.0:0.0:0.0:0.0	.	1045;1078	E7EM71;Q00341	.;VIGLN_HUMAN	T	1078;1078;1078;1045	ENSP00000375836:I1078T;ENSP00000375837:I1078T;ENSP00000312042:I1078T;ENSP00000399139:I1045T	ENSP00000312042:I1078T	I	-	2	0	HDLBP	241821963	1.000000	0.71417	0.090000	0.20809	0.180000	0.23129	9.220000	0.95180	2.008000	0.58898	0.460000	0.39030	ATC		0.498	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		G	242173290	A	G	242173290	3	3	33	1	0	0	0	0	1	0	0	0	7025	333	12	4	593	4	HDLBP	2	242173290	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	75087983	242173290	1026083	12	1997											
CCK	885	broad.mit.edu	37	chr3	42305011	42305011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgcctacggggcgcctCctctgcccgctgcagcccgg	3	6	13	19	4	1	0	0	0	1	0	2	0	2	0	5	3	6	3	5	3	1	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:42305011C>T	ENST00000396169.2	-	4	1017	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CCK_ENST00000334681.5_Missense_Mutation_p.E38K|CCK_ENST00000434608.1_Missense_Mutation_p.E38K	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.E38K(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGGGGCGCCTCCTCTGCCCGC	0.711																																						uc021wwk.1																			1	Substitution - Missense(1)	p.E38K(2)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(112-114)Gag>Aag		Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.							24	29	27					3																	42305011		2202	4299	6501	SO:0001583	missense	885				axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	g.chr3:42305011C>T		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"Endogenous ligands"	1569	protein-coding gene	gene with protein product	"prepro-cholecystokinin", "cholecystokinin triacontatriapeptide"	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.112G>A	3.37:g.42305011C>T	ENSP00000379472:p.Glu38Lys					CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	p.E38K	NM_001174138	NP_001167609	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	1	239	-		Ovarian(412;0.0728)	38						Missense_Mutation	SNP	ENST00000396169.2	37	c.112G>A	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841873	0.32513	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.22539	1.95;1.95;1.95	4.73	4.73	0.59995	Gastrin/cholecystokinin peptide hormone (1);	0.360476	0.32459	N	0.006064	T	0.42449	0.1203	M	0.77103	2.36	0.09310	N	1	D;P	0.61697	0.99;0.611	P;B	0.62491	0.903;0.257	T	0.30357	-0.9981	10	0.24483	T	0.36	-15.223	14.5849	0.68317	0.0:0.8535:0.1465:0.0	.	38;38	B7Z6Q9;P06307	.;CCKN_HUMAN	K	38	ENSP00000379472:E38K;ENSP00000335657:E38K;ENSP00000409124:E38K	ENSP00000335657:E38K	E	-	1	0	CCK	42280015	0.134000	0.22483	0.825000	0.32803	0.437000	0.31866	2.106000	0.41835	2.619000	0.88677	0.655000	0.94253	GAG		0.711	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729		T	42305011	C	T	42305011	3	4	33	1	0	0	0	0	1	0	0	0	2879	864	30	3	243	3	CCK	3	42305011	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		42305011	155717419	13	1998											
MANF	7873	broad.mit.edu	37	chr3	51425306	51425306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagatatgtgagcttaagTatggtgagtatgcctagtcc	10	12	12	7	0	0	3	0	2	0	1	1	3	1	3	3	1	2	3	3	1	5	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:51425306T>C	ENST00000528157.1	+	3	657	c.361T>C	c.(361-363)Tat>Cat	p.Y121H	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	121					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						TGAGCTTAAGTATGGTGAGTA	0.458																																						uc003dbc.3																			0				lung(1)|ovary(1)	2						c.(361-363)Tat>Cat		Homo sapiens mesencephalic astrocyte-derived neurotrophic factor (MANF), mRNA.							112	110	110					3																	51425306		1988	4175	6163	SO:0001583	missense	7873				response to unfolded protein	extracellular region	growth factor activity	g.chr3:51425306T>C	M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"arginine-rich, mutated in early stage tumors"	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.361T>C	3.37:g.51425306T>C	ENSP00000432799:p.Tyr121His						p.Y121H	NM_006010	NP_006001	P55145	MANF_HUMAN			2	443	+			121					Q14CX4|Q86U67|Q96IS4	Missense_Mutation	SNP	ENST00000528157.1	37	c.361T>C	CCDS46836.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552502	0.86127	.	.	ENSG00000145050	ENST00000528157;ENST00000273628	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.88640	2.97	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	D	0.87698	0.2558	9	0.87932	D	0	.	16.4101	0.83708	0.0:0.0:0.0:1.0	.	121	P55145	MANF_HUMAN	H	121;124	.	ENSP00000273628:Y124H	Y	+	1	0	MANF	51400346	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	8.040000	0.89188	2.280000	0.76307	0.460000	0.39030	TAT		0.458	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346490.3	NM_006010		C	51425306	T	C	51425306	3	2	33	1	0	0	0	0	1	0	0	0	9223	1638	57	4	380	4	MANF	3	51425306	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	9120295	51425306	146597124	14	1999											
DKK2	27123	broad.mit.edu	37	chr4	107847047	107847047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcaggccgatgatccttgGtggggactgtggcaatacct	8	10	14	9	1	0	1	0	1	0	0	1	3	1	2	3	5	2	2	3	5	2	2	rs374083904		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:107847047G>T	ENST00000285311.3	-	2	987	c.282C>A	c.(280-282)caC>caA	p.H94Q	DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Missense_Mutation_p.H48Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	94	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGATCCTTGGTGGGGACTGT	0.502																																						uc003hyi.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(280-282)caC>caA		Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.		G	GLN/HIS	1,4405	2.1+/-5.4	0,1,2202	180	154	163		282	2.9	1	4		163	0,8600		0,0,4300	no	missense	DKK2	NM_014421.2	24	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	94/260	107847047	1,13005	2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107847047G>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.282C>A	4.37:g.107847047G>T	ENSP00000285311:p.His94Gln					DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	p.H94Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	987	-		Hepatocellular(203;0.217)	94			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.282C>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	6.635	0.485672	0.12641	2.27E-4	0.0	ENSG00000155011	ENST00000285311;ENST00000510463	T;T	0.40756	1.02;1.02	5.62	2.93	0.34026	Dickkopf, N-terminal cysteine-rich (1);	0.056057	0.85682	D	0.000000	T	0.24470	0.0593	N	0.16743	0.435	0.44316	D	0.997191	P;B	0.39094	0.659;0.129	B;B	0.41988	0.372;0.071	T	0.04242	-1.0966	10	0.10377	T	0.69	-16.8671	7.3372	0.26617	0.2503:0.117:0.6327:0.0	.	94;94	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Q	94;48	ENSP00000285311:H94Q;ENSP00000423797:H48Q	ENSP00000285311:H94Q	H	-	3	2	DKK2	108066496	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.188000	0.17018	0.395000	0.25257	0.467000	0.42956	CAC		0.502	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			T	107847047	G	T	107847047	3	4	33	1	0	0	0	0	1	0	0	0	4545	1252	44	5	509	5	DKK2	4	107847047	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		107847047	83307229	15	2000											
DCHS2	54798	broad.mit.edu	37	chr4	155305544	155305544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccttcactggttttgcGttctcttcctggcttctgaa	3	19	8	11	1	3	1	1	1	2	0	6	1	5	1	2	2	1	4	2	2	1	7	rs370268335		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:155305544G>A	ENST00000357232.4	-	2	209	c.210C>T	c.(208-210)aaC>aaT	p.N70N	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctggttttgcgttctcttcct	0.507																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(208-210)aaC>aaT		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	234	170	192		,210	-0.9	0	4		192	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,70/2917	155305544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155305544G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.210C>T	4.37:g.155305544G>A						DCHS2_uc003inx.2_Intron	p.N70N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	1	210	-	all_hematologic(180;0.208)	Renal(120;0.0854)	70			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.210C>T	CCDS3785.1																																																																																				0.507	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155305544	G	A	155305544	2	1	33	1	0	0	0	0	0	0	0	1	4288	1136	40	1		1	DCHS2	4	155305544	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	47458497	155305544	35848732	16	2001											
ODZ3	55714	broad.mit.edu	37	chr4	183713527	183713527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagtgtggctcgccacaCcatgcagaccatccgatcca	9	6	9	17	2	0	1	0	0	0	1	3	2	2	1	6	1	1	2	6	1	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:183713527C>T	ENST00000511685.1	+	26	5825	c.5702C>T	c.(5701-5703)aCc>aTc	p.T1901I	TENM3_ENST00000406950.2_Missense_Mutation_p.T1901I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1901					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCTCGCCACACCATGCAGACC	0.547																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(5701-5703)aCc>aTc		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							63	69	67					4																	183713527		2031	4193	6224	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713527C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5702C>T	4.37:g.183713527C>T	ENSP00000424226:p.Thr1901Ile						p.T1901I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	5777	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1901					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5702C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281645	0.80692	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87256	-2.23;-2.23	5.18	5.18	0.71444	.	.	.	.	.	D	0.93406	0.7897	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.93244	0.6629	9	0.52906	T	0.07	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1901	Q9P273	TEN3_HUMAN	I	1901	ENSP00000424226:T1901I;ENSP00000385276:T1901I	ENSP00000385276:T1901I	T	+	2	0	ODZ3	183950521	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.914000	0.69964	2.688000	0.91661	0.591000	0.81541	ACC		0.547	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183713527	C	T	183713527	3	4	33	1	0	0	0	0	1	0	0	0	10836	507	18	3	5800	3	ODZ3	4	183713527	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	28407983	183713527	7440749	17	2002											
GPR98	84059	broad.mit.edu	37	chr5	89969926	89969926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttaatgagtatttccGtgtgacattggtttctgcaa	10	16	9	6	1	1	3	0	3	1	0	2	3	2	3	1	1	2	3	1	1	4	5	rs193222107		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:89969926G>A	ENST00000405460.2	+	23	5081	c.4985G>A	c.(4984-4986)cGt>cAt	p.R1662H	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1662	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1662H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTATTTCCGTGTGACATTG	0.393													G|||	1	0.000199681	0	0.0014	5008	,	,		17997	0		0	False		,,,				2504	0					uc003kju.3																			1	Substitution - Missense(1)	p.R1662H(2)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4984-4986)cGt>cAt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							124	115	118					5																	89969926		1889	4113	6002	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89969926G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4985G>A	5.37:g.89969926G>A	ENSP00000384582:p.Arg1662His					GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	p.R1662H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	22	5081	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1662			Calx-beta 11.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4985G>A	CCDS47246.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	16.82	3.227409	0.58668	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28895	1.59	5.07	3.29	0.37713	Na-Ca exchanger/integrin-beta4 (1);	0.334101	0.34362	N	0.004022	T	0.49167	0.1541	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.40403	-0.9565	10	0.45353	T	0.12	.	9.9027	0.41357	0.222:0.0:0.778:0.0	.	1662	Q8WXG9	GPR98_HUMAN	H	1662	ENSP00000384582:R1662H	ENSP00000296619:R1662H	R	+	2	0	GPR98	90005682	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	1.729000	0.38115	0.658000	0.30925	0.555000	0.69702	CGT		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89969926	G	A	89969926	3	1	33	1	0	0	0	0	1	0	0	0	6721	1145	40	1	5075	1	GPR98	5	89969926	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		89969926	90945334	18	2003											
PCDHB9	57717	broad.mit.edu	37	chr5	140568233	140568233	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaacc	10	6	5	20	4	3	1	2	1	1	0	4	2	3	1	6	0	2	0	6	0	3	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:140568233G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.592																																						uc003liw.1																			0											c.(1339-1341)Gcc>Acc		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.							128	128	128					5																	140568233		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568233G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568233G>A							p.A447T	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1339	+			448			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1339G>A	CCDS4251.1																																																																																				0.592	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140568233	G	A	140568233	1	1	33	0	1	0	0	0	0	0	0	0	11549	1074	38	1		1	PCDHB9	5	140568233	IGR	SNP	G	TCGA-06-0169-01A-01D-1490-08	50598307	140568233	40347027	19	2004											
FAT2	2196	broad.mit.edu	37	chr5	150923883	150923883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caattgggaaaaagtgggagGgttatcattgacatcctcca	13	10	11	7	0	1	1	1	1	0	0	3	3	3	3	2	3	0	1	2	3	4	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:150923883G>T	ENST00000261800.5	-	9	6817	c.6805C>A	c.(6805-6807)Cct>Act	p.P2269T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2269	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGTGGGAGGGTTATCATTG	0.502																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6805-6807)Cct>Act		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							102	101	101					5																	150923883		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923883G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6805C>A	5.37:g.150923883G>T	ENSP00000261800:p.Pro2269Thr						p.P2269T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	6818	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2269			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6805C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735259	0.48939	.	.	ENSG00000086570	ENST00000261800	T	0.22134	1.97	5.68	3.81	0.43845	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.183006	0.39210	N	0.001426	T	0.28599	0.0708	L	0.43646	1.37	0.43230	D	0.99512	D	0.57257	0.979	P	0.51833	0.681	T	0.00931	-1.1510	10	0.33141	T	0.24	.	15.9142	0.79500	0.0:0.3034:0.6966:0.0	.	2269	Q9NYQ8	FAT2_HUMAN	T	2269	ENSP00000261800:P2269T	ENSP00000261800:P2269T	P	-	1	0	FAT2	150904076	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	3.248000	0.51430	0.635000	0.30488	0.561000	0.74099	CCT		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150923883	G	T	150923883	3	4	33	1	0	0	0	0	1	0	0	0	5690	1232	43	5	6304	5	FAT2	5	150923883	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	10355650	150923883	29991377	20	2005											
FAM71B	153745	broad.mit.edu	37	chr5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgggccagaaccatgaCgtcaggcagtgggaggatgg	9	7	18	7	1	1	2	1	1	0	1	1	4	1	4	2	6	1	2	2	6	1	1	rs376135369		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:156592924C>T	ENST00000302938.4	-	1	351	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	86						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542																																						uc003lwn.3																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(256-258)Gtc>Atc		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.		C	ILE/VAL	0,4406		0,0,2203	102	97	99		256	3.8	0.9	5		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM71B	NM_130899.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	86/606	156592924	1,13005	2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592924C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.256G>A	5.37:g.156592924C>T	ENSP00000305596:p.Val86Ile						p.V86I	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	356	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	86					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.256G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062228	0.36373	0.0	1.16E-4	ENSG00000170613	ENST00000302938	T	0.05855	3.38	4.67	3.8	0.43715	.	0.089662	0.42964	D	0.000640	T	0.09468	0.0233	L	0.52905	1.665	0.30199	N	0.798831	D	0.64830	0.994	P	0.47075	0.536	T	0.05435	-1.0885	10	0.39692	T	0.17	-24.314	9.5994	0.39593	0.0:0.8997:0.0:0.1003	.	86	Q8TC56	FA71B_HUMAN	I	86	ENSP00000305596:V86I	ENSP00000305596:V86I	V	-	1	0	FAM71B	156525502	0.975000	0.34042	0.861000	0.33841	0.060000	0.15804	2.520000	0.45554	1.265000	0.44215	0.563000	0.77884	GTC		0.542	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		T	156592924	C	T	156592924	3	4	33	1	0	0	0	0	1	0	0	0	5608	536	19	1	1569	1	FAM71B	5	156592924	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	5669041	156592924	24322336	21	2006											
HLA-B	3106	broad.mit.edu	37	chr6	31322411	31322411	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacccccaccacttacaCgcagcctgagagtagctccc	9	6	6	20	1	0	1	0	1	0	1	2	2	2	1	6	0	3	3	6	0	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:31322411C>T	ENST00000412585.2	-	6	1072	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	348					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACCACTTACACGCAGCCTGAG	0.572									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.e6+1		Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.							90	86	87					6																	31322411		2203	4300	6503	SO:0001630	splice_region_variant	3106		Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31322411C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.1045+1G>A	6.37:g.31322411C>T						HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Splice_Site_p.C228_splice|HLA-C_uc003nti.1_Splice_Site	p.C349_splice	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN			6	1099	-			350					Q29764	Silent	SNP	ENST00000412585.2	37	c.1045_splice	CCDS34394.1																																																																																				0.572	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Silent	T	31322411	C	T	31322411	5	4	33	1	0	0	0	0	0	0	1	0	7196	550	19	1	52	1	HLA-B	6	31322411	Splice_Site	SNP	C	TCGA-06-0169-01A-01D-1490-08		31322411	139792656	22	2007											
TRAM2	9697	broad.mit.edu	37	chr6	52370483	52370483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagccaatggccagcacGgcaagggtgaggatgaagag	14	3	15	9	1	0	3	0	2	0	1	0	4	0	4	3	4	2	2	3	4	4	0	rs201290806		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:52370483G>A	ENST00000182527.3	-	9	788	c.789C>T	c.(787-789)gcC>gcT	p.A263A	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	263	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGGCCAGCACGGCAAGGGTGA	0.542																																						uc003paq.3																			0				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.(787-789)gcC>gcT		Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.							102	100	101					6																	52370483		2203	4300	6503	SO:0001819	synonymous_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52370483G>A	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.789C>T	6.37:g.52370483G>A						EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_Non-coding_Transcript	p.A263A	NM_012288	NP_036420	Q15035	TRAM2_HUMAN			8	938	-	Lung NSC(77;0.109)		263			TLC.		A8K6T6	Silent	SNP	ENST00000182527.3	37	c.789C>T	CCDS34477.1																																																																																				0.542	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288		A	52370483	G	A	52370483	2	1	33	1	0	0	0	0	0	0	0	1	16450	1103	39	2		2	TRAM2	6	52370483	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	21048072	52370483	118744584	23	2008											
TCP10	6953	broad.mit.edu	37	chr6	167790118	167790118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcttgacgtctcccGggaggacttttctctctatc	4	16	8	13	2	5	1	0	1	5	0	8	3	5	3	1	2	0	0	1	2	1	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:167790118G>A	ENST00000397829.4	-	5	659	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TCP10_ENST00000366827.2_Silent_p.P164P	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	191						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GACGTCTCCCGGGAGGACTTT	0.493																																						uc003qvv.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(490-492)ccC>ccT		Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.							32	31	31					6																	167790118		1338	2754	4092	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167790118G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.492C>T	6.37:g.167790118G>A						TCP10_uc003qvu.3_Silent_p.P164P|TCP10_uc003qvw.3_Silent_p.P140P	p.P164P	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	704	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	191					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.492C>T	CCDS43527.1																																																																																				0.493	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		A	167790118	G	A	167790118	2	1	33	1	0	0	0	0	0	0	0	1	15707	1103	39	2		2	TCP10	6	167790118	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	115419635	167790118	3324949	24	2009											
NXPH1	30010	broad.mit.edu	37	chr7	8791118	8791118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcgtggaatttgacttgGcacaacaaaccgtgattgat	14	11	9	7	2	0	3	0	3	0	0	1	4	0	4	1	2	2	1	1	2	4	3	rs145299363		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:8791118G>C	ENST00000405863.1	+	3	1446	c.535G>C	c.(535-537)Gca>Cca	p.A179P	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.A62P	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	179	IV (linker domain).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTTGACTTGGCACAACAAAC	0.398													G|||	1	0.000199681	0	0	5008	,	,		22221	0		0.001	False		,,,				2504	0					uc003srv.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(535-537)Gca>Cca		Homo sapiens neurexophilin 1 (NXPH1), mRNA.							64	64	64					7																	8791118		1874	4103	5977	SO:0001583	missense	30010					extracellular region		g.chr7:8791118G>C	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.535G>C	7.37:g.8791118G>C	ENSP00000384551:p.Ala179Pro					NXPH1_uc011jxh.2_Missense_Mutation_p.A62P	p.A179P	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	2	1446	+		Ovarian(82;0.0628)	179			IV (linker domain).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.535G>C	CCDS47540.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.76	3.211358	0.58343	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	N	0.25647	0.755	0.58432	D	0.999999	B	0.11235	0.004	B	0.20384	0.029	T	0.43540	-0.9385	9	0.38643	T	0.18	-15.4057	20.6208	0.99490	0.0:0.0:1.0:0.0	.	179	P58417	NXPH1_HUMAN	P	179;62	.	ENSP00000384551:A179P	A	+	1	0	NXPH1	8757643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.300000	0.72776	2.882000	0.98803	0.655000	0.94253	GCA		0.398	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		C	8791118	G	C	8791118	3	2	33	1	0	0	0	0	1	0	0	0	10790	1203	42	5	541	5	NXPH1	7	8791118	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		8791118	150347545	25	2010											
THSD7A	221981	broad.mit.edu	37	chr7	11422186	11422186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctttgacaccacactGttcgggaagagcccttccaa	10	9	8	14	1	0	3	0	2	0	1	2	4	1	4	4	1	1	1	4	1	2	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:11422186G>A	ENST00000423059.4	-	24	4720	c.4469C>T	c.(4468-4470)aCa>aTa	p.T1490I	AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1490					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCACACTGTTCGGGAAGA	0.418										HNSCC(18;0.044)																												uc021zzo.1																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4468-4470)aCa>aTa		Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.							105	101	102					7																	11422186		1901	4104	6005	SO:0001583	missense	221981					integral to membrane		g.chr7:11422186G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4469C>T	7.37:g.11422186G>A	ENSP00000406482:p.Thr1490Ile	HNSCC(18;0.044)				THSD7A_uc021zzn.1_Missense_Mutation_p.T1488I|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_5'Flank	p.T1490I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	23	4721	-			1490						Missense_Mutation	SNP	ENST00000423059.4	37	c.4469C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297930	0.40694	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59224	0.28	5.84	5.84	0.93424	.	0.359158	0.35870	N	0.002939	T	0.48429	0.1499	L	0.43152	1.355	0.24000	N	0.996213	B	0.17465	0.022	B	0.13407	0.009	T	0.37888	-0.9686	10	0.42905	T	0.14	.	10.5116	0.44866	0.1435:0.0:0.8565:0.0	.	1490	Q9UPZ6	THS7A_HUMAN	I	1490	ENSP00000406482:T1490I	ENSP00000262042:T1490I	T	-	2	0	THSD7A	11388711	0.863000	0.29885	1.000000	0.80357	0.985000	0.73830	1.859000	0.39418	2.765000	0.95021	0.484000	0.47621	ACA		0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		A	11422186	G	A	11422186	3	1	33	1	0	0	0	0	1	0	0	0	15876	1377	48	3	524	3	THSD7A	7	11422186	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	2631068	11422186	147716477	26	2011											
DNAH11	8701	broad.mit.edu	37	chr7	21599234	21599234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtaggccaccgtcaaacGaaaggataatacttcatgca	14	10	8	9	2	2	0	2	0	0	0	2	2	2	1	2	2	3	2	2	2	5	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:21599234G>A	ENST00000409508.3	+	4	737	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E236K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	236	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGTCAAACGAAAGGATAAT	0.313									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(706-708)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							64	62	62					7																	21599234		1828	4077	5905	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599234G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.706G>A	7.37:g.21599234G>A	ENSP00000475939:p.Glu236Lys						p.E236K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			3	737	+			236			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.706G>A		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840870	0.51057	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.95	4.12	0.48240	.	0.344252	0.29594	N	0.011716	T	0.09686	0.0238	N	0.08118	0	0.30292	N	0.790307	P	0.39520	0.676	B	0.32289	0.143	T	0.05683	-1.0870	10	0.66056	D	0.02	.	10.4538	0.44537	0.0736:0.1368:0.7896:0.0	.	236	Q96DT5	DYH11_HUMAN	K	236	ENSP00000330671:E236K	ENSP00000330671:E236K	E	+	1	0	DNAH11	21565759	0.998000	0.40836	0.994000	0.49952	0.802000	0.45316	2.761000	0.47589	1.503000	0.48686	0.563000	0.77884	GAA		0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21599234	G	A	21599234	3	1	33	1	0	0	0	0	1	0	0	0	4599	1059	37	2	720	2	DNAH11	7	21599234	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	10177048	21599234	137539429	27	2012											
GRB10	2887	broad.mit.edu	37	chr7	50742172	50742172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgggagcgctgcaccCtctgcctcggggacacctgt	5	7	14	15	2	1	0	0	0	1	0	2	2	1	2	3	4	3	3	3	4	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:50742172C>G	ENST00000401949.1	-	6	792	c.323G>C	c.(322-324)aGg>aCg	p.R108T	GRB10_ENST00000398810.2_Missense_Mutation_p.R50T|GRB10_ENST00000402497.1_Missense_Mutation_p.R50T|GRB10_ENST00000398812.2_Missense_Mutation_p.R108T|GRB10_ENST00000439599.1_Missense_Mutation_p.R102T|GRB10_ENST00000335866.3_Missense_Mutation_p.R50T|GRB10_ENST00000403097.1_Missense_Mutation_p.R102T|GRB10_ENST00000402578.1_Missense_Mutation_p.R50T|GRB10_ENST00000407526.1_Missense_Mutation_p.R50T|GRB10_ENST00000357271.5_Missense_Mutation_p.R108T|GRB10_ENST00000406641.1_Missense_Mutation_p.R50T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	108					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCGCTGCACCCTCTGCCTCGG	0.657									Russell-Silver syndrome																													uc003tpi.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(322-324)aGg>aCg		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							37	44	42					7																	50742172		2105	4220	6325	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50742172C>G		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.323G>C	7.37:g.50742172C>G	ENSP00000385770:p.Arg108Thr					GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T	p.R108T	NM_005311	NP_005302	Q13322	GRB10_HUMAN			2	369	-	Glioma(55;0.08)|all_neural(89;0.245)		108					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.323G>C	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291274	0.40494	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497;ENST00000439044	T;T;D;D;D;T;D;T;D;T;D;T	0.82081	-1.43;-1.43;-1.57;-1.57;-1.57;-1.43;-1.57;-1.46;-1.57;-1.43;-1.57;-0.28	5.57	-1.91	0.07641	.	0.487601	0.25529	N	0.030044	T	0.74313	0.3700	L	0.40543	1.245	0.09310	N	1	B;B;B	0.28055	0.199;0.199;0.126	B;B;B	0.30572	0.117;0.117;0.034	T	0.62604	-0.6819	10	0.40728	T	0.16	-13.0411	13.3061	0.60352	0.0:0.4002:0.0:0.5998	.	102;108;108	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	108;102;50;50;50;102;50;108;50;108;50;102	ENSP00000381793:R108T;ENSP00000406716:R102T;ENSP00000338543:R50T;ENSP00000381790:R50T;ENSP00000385189:R50T;ENSP00000385544:R102T;ENSP00000385366:R50T;ENSP00000349818:R108T;ENSP00000385046:R50T;ENSP00000385770:R108T;ENSP00000385748:R50T;ENSP00000413023:R102T	ENSP00000338543:R50T	R	-	2	0	GRB10	50709666	0.035000	0.19736	0.001000	0.08648	0.911000	0.54048	0.091000	0.15046	-0.484000	0.06763	-0.140000	0.14226	AGG		0.657	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			G	50742172	C	G	50742172	3	3	33	1	0	0	0	0	1	0	0	0	6756	681	24	5	1517	5	GRB10	7	50742172	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	29142938	50742172	108396491	28	2013											
PCLO	27445	broad.mit.edu	37	chr7	82763793	82763793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaataggtggtggcttttTttctgtttctgttcttttta	4	24	8	5	0	3	0	0	0	3	0	3	0	3	0	0	3	0	3	0	3	3	10			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:82763793T>C	ENST00000333891.9	-	3	3410	c.3073A>G	c.(3073-3075)Aaa>Gaa	p.K1025E	PCLO_ENST00000423517.2_Missense_Mutation_p.K1025E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTTTTTTTCTGTTTCT	0.408																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3073-3075)Aaa>Gaa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							90	86	87					7																	82763793		1839	4086	5925	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763793T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3073A>G	7.37:g.82763793T>C	ENSP00000334319:p.Lys1025Glu					PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	p.K1025E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	3362	-			971						Missense_Mutation	SNP	ENST00000333891.9	37	c.3073A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.291	1.050511	0.19827	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76186	-1.0;-1.0	6.07	6.07	0.98685	.	.	.	.	.	T	0.68796	0.3040	L	0.36672	1.1	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.39840	0.163;0.311	T	0.73269	-0.4036	9	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1025;1025	Q9Y6V0-5;Q9Y6V0-6	.;.	E	971;1025;1025	ENSP00000334319:K1025E;ENSP00000388393:K1025E	ENSP00000334319:K1025E	K	-	1	0	PCLO	82601729	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	2.446000	0.44908	2.326000	0.78906	0.533000	0.62120	AAA		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82763793	T	C	82763793	3	2	33	1	0	0	0	0	1	0	0	0	11583	1850	64	4	12464	4	PCLO	7	82763793	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	32021621	82763793	76374870	29	2014											
RELN	5649	broad.mit.edu	37	chr7	103270455	103270455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccagagactgagtgacCtccacaagattggtaaagtc	14	8	9	10	0	0	4	0	2	0	2	3	5	2	4	3	1	0	1	3	1	4	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:103270455C>T	ENST00000428762.1	-	20	2793	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	RELN_ENST00000424685.2_Silent_p.E878E|RELN_ENST00000343529.5_Silent_p.E878E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	878					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGAGTGACCTCCACAAGAT	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2632-2634)gaG>gaA		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							137	126	129					7																	103270455		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103270455C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2634G>A	7.37:g.103270455C>T						RELN_uc022ajq.1_Silent_p.E878E|RELN_uc010liz.3_Silent_p.E878E	p.E878E	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	19	2794	-			878					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.2634G>A	CCDS47680.1																																																																																				0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103270455	C	T	103270455	2	4	33	1	0	0	0	0	0	0	0	1	13220	680	24	3		3	RELN	7	103270455	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	20506662	103270455	55868208	30	2015											
TAS2R39	259285	broad.mit.edu	37	chr7	142881262	142881262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatgccacagggtccaacGaccccagcatggaggctcac	11	4	11	15	1	1	0	1	0	0	0	2	2	2	1	4	3	3	3	4	3	2	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:142881262G>A	ENST00000446620.1	+	1	751	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGGTCCAACGACCCCAGCAT	0.498																																						uc011ksw.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(751-753)Gac>Aac		Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.							150	140	143					7																	142881262		1949	4140	6089	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881262G>A	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.751G>A	7.37:g.142881262G>A	ENSP00000405095:p.Asp251Asn						p.D251N	NM_176881	NP_795362	P59534	T2R39_HUMAN			0	751	+	Melanoma(164;0.059)		251					A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.751G>A	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102382	0.20632	.	.	ENSG00000236398	ENST00000446620	T	0.01025	5.43	4.45	1.62	0.23740	.	.	.	.	.	T	0.01592	0.0051	L	0.48642	1.525	0.23704	N	0.997061	D	0.58268	0.982	P	0.48815	0.591	T	0.53121	-0.8483	9	0.51188	T	0.08	.	7.6089	0.28118	0.3634:0.0:0.6366:0.0	.	251	P59534	T2R39_HUMAN	N	251	ENSP00000405095:D251N	ENSP00000405095:D251N	D	+	1	0	TAS2R39	142591384	0.669000	0.27502	0.941000	0.38009	0.132000	0.20833	1.391000	0.34475	0.613000	0.30089	-0.133000	0.14855	GAC		0.498	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		A	142881262	G	A	142881262	3	1	33	1	0	0	0	0	1	0	0	0	15573	1058	37	2	753	2	TAS2R39	7	142881262	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	39610807	142881262	16257401	31	2016											
OR2A5	393046	broad.mit.edu	37	chr7	143748162	143748162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctactcgcgcatcctggCggccatcttgaggatccagt	6	10	10	15	3	1	1	0	1	1	0	5	2	4	2	4	3	1	1	4	3	1	2	rs201829543	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:143748162C>T	ENST00000408906.2	+	1	702	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGCATCCTGGCGGCCATCTTG	0.607																																						uc011ktw.2																			1	Substitution - Missense(1)	p.A223V(2)	large_intestine(1)	cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(667-669)gCg>gTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.							106	108	107					7																	143748162		2017	4179	6196	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748162C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.668C>T	7.37:g.143748162C>T	ENSP00000386208:p.Ala223Val						p.A223V	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			0	668	+	Melanoma(164;0.0783)		223					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.668C>T	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832653	0.02713	.	.	ENSG00000221836	ENST00000408906	T	0.36157	1.27	5.37	-7.37	0.01412	GPCR, rhodopsin-like superfamily (1);	3.036110	0.01925	U	0.040822	T	0.15522	0.0374	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13124	-1.0521	10	0.15952	T	0.53	.	5.1497	0.15004	0.1076:0.4826:0.2196:0.1902	.	223	Q96R48	OR2A5_HUMAN	V	223	ENSP00000386208:A223V	ENSP00000386208:A223V	A	+	2	0	OR2A5	143379095	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.985000	0.00660	-0.803000	0.04415	-0.355000	0.07637	GCG		0.607	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			T	143748162	C	T	143748162	3	4	33	1	0	0	0	0	1	0	0	0	10981	768	27	1	670	1	OR2A5	7	143748162	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	866900	143748162	15390501	32	2017											
TEX15	56154	broad.mit.edu	37	chr8	30695500	30695500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatttcaaccttttttggcGttaaatgatttcttttcaga	9	19	6	7	1	3	2	2	1	1	1	3	2	3	2	1	1	1	2	1	1	3	8			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:30695500G>A	ENST00000256246.2	-	3	7225	c.7151C>T	c.(7150-7152)aCg>aTg	p.T2384M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2384					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTTTGGCGTTAAATGATT	0.388																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7150-7152)aCg>aTg		Homo sapiens testis expressed 15 (TEX15), mRNA.							165	165	165					8																	30695500		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695500G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7151C>T	8.37:g.30695500G>A	ENSP00000256246:p.Thr2384Met						p.T2384M	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7151	-			2384						Missense_Mutation	SNP	ENST00000256246.2	37	c.7151C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625047	0.28889	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	4.81	3.93	0.45458	.	0.871540	0.09742	N	0.761687	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	P	0.49862	0.929	B	0.36030	0.216	T	0.27739	-1.0065	10	0.87932	D	0	.	9.5987	0.39589	0.1:0.0:0.9:0.0	.	2384	Q9BXT5	TEX15_HUMAN	M	2384	ENSP00000256246:T2384M	ENSP00000256246:T2384M	T	-	2	0	TEX15	30815042	0.977000	0.34250	0.004000	0.12327	0.009000	0.06853	2.132000	0.42083	1.335000	0.45486	0.462000	0.41574	ACG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30695500	G	A	30695500	3	1	33	1	0	0	0	0	1	0	0	0	15776	1145	40	1	1226	1	TEX15	8	30695500	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		30695500	115668522	33	2018											
ADAM18	8749	broad.mit.edu	37	chr8	39502901	39502901	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcggttattatagcTcaactgcttggccttaatgt	8	17	9	7	1	1	0	1	0	0	0	2	1	1	1	1	3	3	3	1	3	5	7			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:39502901T>C	ENST00000265707.5	+	11	999	c.954T>C	c.(952-954)gcT>gcC	p.A318A	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.A294A	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	318	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTATTATAGCTCAACTGCTTG	0.333																																						uc003xni.3																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(952-954)gcT>gcC		Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.							139	125	130					8																	39502901		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39502901T>C	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.954T>C	8.37:g.39502901T>C						ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.A294A	p.A318A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		10	1009	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	318			Peptidase M12B.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.954T>C	CCDS6113.1																																																																																				0.333	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		C	39502901	T	C	39502901	2	2	33	1	0	0	0	0	0	0	0	1	239	1538	54	4		4	ADAM18	8	39502901	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08	8807401	39502901	106861121	34	2019											
IL7	3574	broad.mit.edu	37	chr8	79710323	79710323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataccaataattgatcgatgCtgaccattagaacactctca	15	11	5	10	1	1	3	1	2	1	1	3	4	1	3	2	0	3	1	2	0	5	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:79710323C>T	ENST00000263851.4	-	2	731	c.131G>A	c.(130-132)aGc>aAc	p.S44N	IL7_ENST00000379113.2_Missense_Mutation_p.S44N|IL7_ENST00000520269.1_Missense_Mutation_p.S44N	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	44					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TTGATCGATGCTGACCATTAG	0.353																																						uc003ybg.3																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(130-132)aGc>aAc		Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.							151	138	142					8																	79710323		2203	4300	6503	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79710323C>T	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.131G>A	8.37:g.79710323C>T	ENSP00000263851:p.Ser44Asn					IL7_uc022awh.1_Missense_Mutation_p.S44N|IL7_uc022awi.1_Missense_Mutation_p.S44N|IL7_uc022awj.1_Missense_Mutation_p.S44N|IL7_uc003ybh.3_Intron|IL7_uc003ybi.3_Non-coding_Transcript	p.S44N	NM_000880	NP_000871	P13232	IL7_HUMAN			1	732	-			44					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.131G>A	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253970	0.39896	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000379113	T;T;T	0.46063	0.88;0.88;0.88	5.21	3.27	0.37495	.	0.248224	0.36134	N	0.002768	T	0.25232	0.0613	N	0.20986	0.625	0.32871	D	0.509225	B;B	0.18310	0.024;0.027	B;B	0.20955	0.031;0.032	T	0.23619	-1.0183	9	.	.	.	.	7.9738	0.30143	0.0:0.7972:0.0:0.2028	.	44;44	P13232;Q5FBY9	IL7_HUMAN;.	N	44;44;41;44	ENSP00000263851:S44N;ENSP00000427750:S44N;ENSP00000368408:S44N	.	S	-	2	0	IL7	79872878	0.995000	0.38212	0.991000	0.47740	0.289000	0.27227	0.019000	0.13444	1.323000	0.45263	0.557000	0.71058	AGC		0.353	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			T	79710323	C	T	79710323	3	4	33	1	0	0	0	0	1	0	0	0	7704	797	28	3	422	3	IL7	8	79710323	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	40207422	79710323	66653699	35	2020											
GPR20	2843	broad.mit.edu	37	chr8	142366995	142366995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagggcgtgagggccGgcactgaggatgtgatgacg	7	7	21	6	3	0	5	0	5	0	0	0	6	0	6	1	5	0	1	1	5	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:142366995G>A	ENST00000377741.3	-	2	1119	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	343					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGAGGGCCGGCACTGAGGA	0.667																																						uc022bby.1																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(1027-1029)gcC>gcT		Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.							45	40	42					8																	142366995		2203	4300	6503	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142366995G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.1029C>T	8.37:g.142366995G>A						GPR20_uc003ywf.3_Silent_p.A343A	p.A343A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		0	1029	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		343					Q17R96	Silent	SNP	ENST00000377741.3	37	c.1029C>T	CCDS34949.1																																																																																				0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142366995	G	A	142366995	2	1	33	1	0	0	0	0	0	0	0	1	6680	1103	39	2		2	GPR20	8	142366995	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	62656672	142366995	3997027	36	2021											
C9orf131	138724	broad.mit.edu	37	chr9	35045456	35045456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcctcatcctcagccaaaAagagagagcaccctaggaaa	16	4	8	13	0	2	2	2	0	0	2	3	4	3	3	4	1	3	1	4	1	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:35045456A>G	ENST00000312292.5	+	2	2877	c.2830A>G	c.(2830-2832)Aag>Gag	p.K944E	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.K896E|C9orf131_ENST00000354479.5_Missense_Mutation_p.K871E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	944										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCAGCCAAAAAGAGAGAGCA	0.532																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2830-2832)Aag>Gag		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							132	135	134					9																	35045456		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045456A>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2830A>G	9.37:g.35045456A>G	ENSP00000308279:p.Lys944Glu					C9orf131_uc003zvu.3_Missense_Mutation_p.K896E|C9orf131_uc003zvv.3_Missense_Mutation_p.K871E|C9orf131_uc003zvx.3_Missense_Mutation_p.K909E	p.K944E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	2859	+	all_epithelial(49;0.22)		944					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2830A>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774018	0.49786	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.16743	2.32;2.32;2.33	4.43	3.29	0.37713	.	0.400249	0.21529	N	0.073077	T	0.22044	0.0531	M	0.69823	2.125	0.09310	N	1	P;P;P;P	0.40107	0.539;0.703;0.539;0.539	B;B;B;B	0.43225	0.273;0.412;0.273;0.273	T	0.12426	-1.0548	10	0.66056	D	0.02	0.0431	6.3404	0.21319	0.8879:0.0:0.1121:0.0	.	419;944;871;896	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	E	896;871;944;419	ENSP00000393683:K896E;ENSP00000346472:K871E;ENSP00000308279:K944E	ENSP00000308279:K944E	K	+	1	0	C9orf131	35035456	0.011000	0.17503	0.162000	0.22713	0.065000	0.16274	1.266000	0.33039	0.750000	0.32877	0.460000	0.39030	AAG		0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		G	35045456	A	G	35045456	3	3	33	1	0	0	0	0	1	0	0	0	2457	15	1	4	2852	4	C9orf131	9	35045456	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08		35045456	106167975	37	2022											
COL15A1	1306	broad.mit.edu	37	chr9	101797331	101797331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttacctggacccccGgggaaaaagggacaagctgg	12	4	15	10	1	0	1	0	0	0	1	0	4	0	4	3	6	2	2	3	6	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:101797331G>A	ENST00000375001.3	+	18	2538	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	705	Collagen-like 2.|Triple-helical region 2 (COL2).		P -> L (in dbSNP:rs41308900).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGACCCCCGGGGAAAAAGG	0.612																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2113-2115)ccG>ccA		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							46	46	46					9																	101797331		2202	4299	6501	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797331G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2115G>A	9.37:g.101797331G>A							p.P705P	NM_001855	NP_001846	P39059	COFA1_HUMAN			17	2321	+		Acute lymphoblastic leukemia(62;0.0562)	705		P -> L (in dbSNP:rs41308900).	Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2115G>A	CCDS35081.1																																																																																				0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101797331	G	A	101797331	2	1	33	1	0	0	0	0	0	0	0	1	3672	1103	39	2		2	COL15A1	9	101797331	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	66751875	101797331	39416100	38	2023											
ANO9	338440	broad.mit.edu	37	chr11	420522	420522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaccatcttgatggcgTccaggcggatctccacgagg	9	7	12	13	3	2	2	0	1	2	1	4	4	3	3	4	4	0	0	4	4	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:420522T>C	ENST00000332826.6	-	19	1811	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	576					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGATGGCGTCCAGGCGGAT	0.687																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1726-1728)gAc>gGc		Homo sapiens anoctamin 9 (ANO9), mRNA.							21	20	20					11																	420522		2199	4288	6487	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420522T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1727A>G	11.37:g.420522T>C	ENSP00000332788:p.Asp576Gly					ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	p.D576G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			18	1812	-			576					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1727A>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833217	0.91036	.	.	ENSG00000185101	ENST00000332826	T	0.73258	-0.73	4.08	4.08	0.47627	.	0.144713	0.43260	U	0.000592	D	0.86049	0.5840	M	0.92317	3.295	0.80722	D	1	D;D	0.64830	0.994;0.991	P;D	0.65987	0.901;0.94	D	0.89490	0.3756	10	0.87932	D	0	.	13.3731	0.60723	0.0:0.0:0.0:1.0	.	277;576	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	G	576	ENSP00000332788:D576G	ENSP00000332788:D576G	D	-	2	0	ANO9	410522	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.104000	0.71498	1.615000	0.50252	0.379000	0.24179	GAC		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		C	420522	T	C	420522	3	2	33	1	0	0	0	0	1	0	0	0	704	1667	58	4	641	4	ANO9	11	420522	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		420522	134585994	39	2024											
OR51L1	119682	broad.mit.edu	37	chr11	5020398	5020398	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccatcagcccatgtaTtactttatttccatcttagc	8	17	3	13	0	3	0	1	0	2	0	6	0	5	0	3	0	3	1	3	0	4	6			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:5020398T>C	ENST00000321543.1	+	1	186	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATGTATTACTTTATTT	0.448																																						uc010qyu.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(184-186)taT>taC		Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.							210	186	194					11																	5020398		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020398T>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.186T>C	11.37:g.5020398T>C							p.Y62Y	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	186	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	62					Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.186T>C	CCDS31369.1																																																																																				0.448	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		C	5020398	T	C	5020398	2	2	33	1	0	0	0	0	0	0	0	1	11102	1500	52	4		4	OR51L1	11	5020398	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08	4599876	5020398	129986118	40	2025											
LYVE1	10894	broad.mit.edu	37	chr11	10580685	10580685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttccaggcatcgcacGgtagttttgcttggactctt	6	14	10	11	2	2	0	1	0	1	0	4	1	3	1	1	3	2	6	1	3	1	6	rs553314813		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:10580685G>A	ENST00000256178.3	-	6	1100	c.942C>T	c.(940-942)acC>acT	p.T314T	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Silent_p.T210T|LYVE1_ENST00000531706.1_5'Flank|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	314					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T314T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GGCATCGCACGGTAGTTTTGC	0.463																																						uc001miv.2																			1	Substitution - coding silent(1)	p.T314T(2)|p.T313S(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(940-942)acC>acT		Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.							297	273	281					11																	10580685		2201	4294	6495	SO:0001819	synonymous_variant	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10580685G>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"extracellular link domain containing 1"	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.942C>T	11.37:g.10580685G>A						MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.T210T	p.T314T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	5	1228	-			314					Q8TC18|Q9UNF4	Silent	SNP	ENST00000256178.3	37	c.942C>T	CCDS7804.1																																																																																				0.463	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		A	10580685	G	A	10580685	2	1	33	1	0	0	0	0	0	0	0	1	9129	1103	39	2		2	LYVE1	11	10580685	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	5560287	10580685	124425831	41	2026											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955854	18955854	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaacaggaagccacataAcatccactccaggatgctcc	14	6	7	14	0	0	1	0	1	0	0	3	3	3	3	4	2	4	1	4	2	3	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:18955854A>C	ENST00000302797.3	-	1	702	c.478T>G	c.(478-480)Tta>Gta	p.L160V	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	160					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCACATAACATCCACTCC	0.557																																						uc001mpg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(478-480)Tta>Gta		Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.							105	88	94					11																	18955854		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955854A>C		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.478T>G	11.37:g.18955854A>C	ENSP00000305766:p.Leu160Val						p.L160V	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			0	696	-			160					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.478T>G	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	4.188	0.033612	0.08101	.	.	ENSG00000170255	ENST00000302797	T	0.73575	-0.76	2.28	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	1.721060	0.02936	N	0.139878	T	0.61185	0.2327	N	0.20685	0.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49890	-0.8891	10	0.52906	T	0.07	.	6.0132	0.19588	0.7706:0.0:0.0:0.2294	.	160	Q96LB2	MRGX1_HUMAN	V	160	ENSP00000305766:L160V	ENSP00000305766:L160V	L	-	1	2	MRGPRX1	18912430	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	-0.358000	0.07641	0.268000	0.21939	0.402000	0.26972	TTA		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		C	18955854	A	C	18955854	3	2	33	1	0	0	0	0	1	0	0	0	9766	40	2	5	494	5	MRGPRX1	11	18955854	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	8375169	18955854	116050662	42	2027											
ATG2A	23130	broad.mit.edu	37	chr11	64663974	64663974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgctgagttccagggcgGcagaggctgtggatgagcca	7	8	18	8	1	0	3	0	2	0	1	1	4	1	4	2	5	2	5	2	5	0	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:64663974G>A	ENST00000377264.3	-	39	5499	c.5387C>T	c.(5386-5388)gCc>gTc	p.A1796V	ATG2A_ENST00000421419.2_Missense_Mutation_p.A1798V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1796					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTCCAGGGCGGCAGAGGCTGT	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obx.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5386-5388)gCc>gTc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							46	47	47					11																	64663974		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64663974G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5387C>T	11.37:g.64663974G>A	ENSP00000366475:p.Ala1796Val		OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.3_Missense_Mutation_p.A561V	p.A1796V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			38	5502	-			1796					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5387C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449551	0.63178	.	.	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.09630	2.96;2.96	3.86	2.93	0.34026	.	0.000000	0.64402	D	0.000001	T	0.34600	0.0903	M	0.87180	2.865	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.19910	-1.0291	10	0.62326	D	0.03	.	10.6719	0.45764	0.0:0.0:0.807:0.193	.	1796;1798	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	V	1798;189;1796	ENSP00000410522:A1798V;ENSP00000366475:A1796V	ENSP00000366473:A189V	A	-	2	0	ATG2A	64420550	1.000000	0.71417	0.504000	0.27639	0.468000	0.32798	8.843000	0.92142	0.957000	0.37930	-0.314000	0.08810	GCC		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64663974	G	A	64663974	3	1	33	1	0	0	0	0	1	0	0	0	1093	1203	42	3	441	3	ATG2A	11	64663974	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	45708120	64663974	70342542	43	2028											
DSCAML1	57453	broad.mit.edu	37	chr11	117306485	117306485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcacatcatccccttcaCcttgagcagacttgatgggt	8	13	7	13	0	4	3	3	2	1	1	5	3	5	3	3	1	1	1	3	1	0	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:117306485C>T	ENST00000321322.6	-	27	4932	c.4931G>A	c.(4930-4932)gGt>gAt	p.G1644D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1374D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1584					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCCCCTTCACCTTGAGCAGA	0.522																																						uc001prh.1																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4930-4932)gGt>gAt		Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.							169	122	138					11																	117306485		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117306485C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4931G>A	11.37:g.117306485C>T	ENSP00000315465:p.Gly1644Asp						p.G1644D	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4933	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1584					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4931G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205073	0.58234	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60920	0.18;0.15	4.47	4.47	0.54385	.	.	.	.	.	T	0.43743	0.1261	N	0.19112	0.55	0.58432	D	0.999999	B	0.26845	0.161	B	0.29598	0.104	T	0.29852	-0.9998	9	0.13470	T	0.59	.	17.689	0.88265	0.0:1.0:0.0:0.0	.	1584	Q8TD84	DSCL1_HUMAN	D	1374;1644;1351	ENSP00000434335:G1374D;ENSP00000315465:G1644D	ENSP00000315465:G1644D	G	-	2	0	DSCAML1	116811695	0.990000	0.36364	0.992000	0.48379	0.889000	0.51656	2.881000	0.48538	2.490000	0.84030	0.655000	0.94253	GGT		0.522	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117306485	C	T	117306485	3	4	33	1	0	0	0	0	1	0	0	0	4769	507	18	3	1438	3	DSCAML1	11	117306485	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	52642511	117306485	17700031	44	2029											
VPS11	55823	broad.mit.edu	37	chr11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaactggattggcctttCgccaagcaggaaagaccact	11	9	10	11	1	0	1	0	0	0	1	1	3	0	3	3	3	2	2	3	3	3	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:118941054C>T	ENST00000300793.6	+	5	622	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	195					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517																																						uc010ryx.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(577-579)Cgc>Tgc		Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.							65	67	67					11																	118941054		1944	4137	6081	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118941054C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.580C>T	11.37:g.118941054C>T	ENSP00000475301:p.Arg194Cys					VPS11_uc010ryy.2_Missense_Mutation_p.R41C	p.R193C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	4	619	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	195					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.577C>T																																																																																					0.517	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		T	118941054	C	T	118941054	3	4	33	1	0	0	0	0	1	0	0	0	17185	884	31	2	596	2	VPS11	11	118941054	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	1634569	118941054	16065462	45	2030											
ROBO4	54538	broad.mit.edu	37	chr11	124765757	124765757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtgtcacattttccAgctgaattcgcacagccaga	11	10	8	12	1	2	2	2	1	0	1	4	2	3	2	2	0	3	3	2	0	1	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:124765757A>C	ENST00000306534.3	-	5	1216	c.731T>G	c.(730-732)cTg>cGg	p.L244R	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.L99R	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	244					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACATTTTCCAGCTGAATTCG	0.602																																						uc001qbg.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(730-732)cTg>cGg		Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.							73	74	74					11																	124765757		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765757A>C	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.731T>G	11.37:g.124765757A>C	ENSP00000304945:p.Leu244Arg					ROBO4_uc010sas.2_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	p.L244R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	871	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	244					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.731T>G	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458810	0.84317	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.67171	-0.25;0.13	4.96	4.96	0.65561	.	0.000000	0.30979	N	0.008496	T	0.80768	0.4686	M	0.78049	2.395	0.38983	D	0.958993	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	D	0.84363	0.0539	10	0.87932	D	0	.	12.1442	0.54014	1.0:0.0:0.0:0.0	.	134;244	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	R	244;134;99	ENSP00000304945:L244R;ENSP00000437129:L99R	ENSP00000304945:L244R	L	-	2	0	ROBO4	124270967	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.315000	0.65810	2.082000	0.62665	0.459000	0.35465	CTG		0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		C	124765757	A	C	124765757	3	2	33	1	0	0	0	0	1	0	0	0	13516	188	7	5	2348	5	ROBO4	11	124765757	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	5824703	124765757	10240759	46	2031											
PTPN6	5777	broad.mit.edu	37	chr12	7069548	7069548	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacgggaacatcacctaTcccccagccatgaagaatgc	13	6	9	13	1	1	2	1	1	0	1	2	4	2	3	4	1	4	1	4	1	5	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:7069548T>C	ENST00000318974.9	+	14	1867	c.1623T>C	c.(1621-1623)taT>taC	p.Y541Y	PTPN6_ENST00000456013.1_Silent_p.Y541Y|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000399448.1_Silent_p.Y543Y|PTPN6_ENST00000447931.2_Silent_p.Y502Y|PTPN6_ENST00000539029.1_3'UTR	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	541					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACATCACCTATCCCCCAGCCA	0.647																																						uc001qsb.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(1621-1623)taT>taC		Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.							78	87	84					12																	7069548		2165	4259	6424	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7069548T>C		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1623T>C	12.37:g.7069548T>C						PTPN6_uc001qsa.1_Silent_p.Y543Y|PTPN6_uc010sfr.1_Silent_p.Y502Y|PTPN6_uc009zfl.1_Silent_p.Y541Y|PTPN6_uc010sfs.1_Silent_p.Y529Y	p.Y541Y	NM_002831	NP_002822	P29350	PTN6_HUMAN			13	1865	+			541					A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.1623T>C	CCDS44820.1																																																																																				0.647	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		C	7069548	T	C	7069548	2	2	33	1	0	0	0	0	0	0	0	1	12792	1442	50	4		4	PTPN6	12	7069548	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08		7069548	126782347	47	2032											
ZC3H13	23091	broad.mit.edu	37	chr13	46559437	46559437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaaaccttaccctttTcaggtaactcaggaaccctc	13	10	5	13	0	3	0	3	0	0	0	4	1	3	1	3	2	4	1	3	2	5	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr13:46559437T>C	ENST00000242848.4	-	10	2063	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E572G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	572	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTACCCTTTTCAGGTAACTC	0.358																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1714-1716)gAa>gGa		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							59	60	60					13																	46559437		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559437T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1715A>G	13.37:g.46559437T>C	ENSP00000242848:p.Glu572Gly					ZC3H13_uc001vas.1_Missense_Mutation_p.E572G|ZC3H13_uc001vat.1_Missense_Mutation_p.E572G	p.E572G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	8	1721	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	572			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1715A>G		.	.	.	.	.	.	.	.	.	.	T	12.90	2.076290	0.36662	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35605	2.3;1.3	5.73	5.73	0.89815	.	0.089576	0.48286	D	0.000186	T	0.34890	0.0913	L	0.32530	0.975	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.42361	0.214;0.385	T	0.16247	-1.0409	10	0.66056	D	0.02	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	572;572	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	572;572;388	ENSP00000242848:E572G;ENSP00000282007:E572G	ENSP00000242848:E572G	E	-	2	0	ZC3H13	45457438	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.357000	0.59436	2.308000	0.77769	0.533000	0.62120	GAA		0.358	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		C	46559437	T	C	46559437	3	2	33	1	0	0	0	0	1	0	0	0	17562	1783	62	4	3011	4	ZC3H13	13	46559437	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		46559437	68610441	48	2033											
OR4K13	390433	broad.mit.edu	37	chr14	20502502	20502502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagcccagtgagcaccCgtgggctcatgatggtcatg	9	8	13	11	1	2	2	2	2	0	0	2	2	2	2	2	2	2	3	2	2	1	1	rs373021760		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr14:20502502C>T	ENST00000315693.2	-	1	417	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGAGCACCCGTGGGCTCAT	0.488																																						uc010tkz.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(415-417)cGg>cAg		Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.		C	GLN/ARG	1,4405		0,1,2202	140	139	139		416	0.6	0	14		139	0,8600		0,0,4300	no	missense	OR4K13	NM_001004714.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	139/305	20502502	1,13005	2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502502C>T		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.416G>A	14.37:g.20502502C>T	ENSP00000319322:p.Arg139Gln						p.R139Q	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	0	416	-	all_cancers(95;0.00108)		139					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.416G>A	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	1.421	-0.572781	0.03882	2.27E-4	0.0	ENSG00000176253	ENST00000315693	T	0.41758	0.99	3.6	0.596	0.17496	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33075	U	0.005306	T	0.24275	0.0588	N	0.25485	0.75	0.09310	N	1	B	0.27316	0.175	B	0.28784	0.094	T	0.18023	-1.0350	10	0.20519	T	0.43	.	6.9751	0.24670	0.0:0.563:0.0:0.437	.	139	Q8NH42	OR4KD_HUMAN	Q	139	ENSP00000319322:R139Q	ENSP00000319322:R139Q	R	-	2	0	OR4K13	19572342	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-1.576000	0.02129	-0.077000	0.12752	-1.274000	0.01402	CGG		0.488	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			T	20502502	C	T	20502502	3	4	33	1	0	0	0	0	1	0	0	0	11068	652	23	2	500	2	OR4K13	14	20502502	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		20502502	86847038	49	2034											
NIPA2	81614	broad.mit.edu	37	chr15	23006662	23006662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatccaagccaggggatgCcgcagcacaggcttccctgc	10	5	12	14	1	0	1	0	0	0	1	2	2	2	2	4	3	4	3	4	3	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23006662C>T	ENST00000337451.3	-	8	1254	c.642G>A	c.(640-642)cgG>cgA	p.R214R	NIPA2_ENST00000359727.4_Silent_p.R195R|NIPA2_ENST00000398014.2_Silent_p.R214R|NIPA2_ENST00000398013.3_Silent_p.R214R|NIPA2_ENST00000539711.2_Silent_p.R195R	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	214						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CCAGGGGATGCCGCAGCACAG	0.502																																						uc001yvb.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(640-642)cgG>cgA		Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.							75	81	79					15																	23006662		2203	4300	6503	SO:0001819	synonymous_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006662C>T	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.642G>A	15.37:g.23006662C>T						NIPA2_uc001yux.3_Silent_p.R214R|NIPA2_uc001yuy.3_Silent_p.R214R|NIPA2_uc001yuz.3_Silent_p.R214R|NIPA2_uc010ayb.3_Silent_p.R195R|NIPA2_uc001yva.3_Silent_p.R195R	p.R214R	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	9	1499	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	214					F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.642G>A	CCDS10010.1																																																																																				0.502	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		T	23006662	C	T	23006662	2	4	33	1	0	0	0	0	0	0	0	1	10423	726	26	3		3	NIPA2	15	23006662	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08		23006662	79524730	50	2035											
MKRN3	7681	broad.mit.edu	37	chr15	23811322	23811322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggccactgagggtggCgtttcgccgcctggggcctc	5	8	16	12	3	0	2	0	1	0	1	2	2	0	2	4	5	0	1	4	5	1	1	rs36072495	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23811322C>T	ENST00000314520.3	+	1	869	c.393C>T	c.(391-393)ggC>ggT	p.G131G	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	131					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAGGGTGGCGTTTCGCCGC	0.622													C|||	35	0.00698882	0.0257	0	5008	,	,		17407	0		0	False		,,,				2504	0.001					uc001ywh.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(391-393)ggC>ggT		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.		C		48,4358	48.2+/-83.0	0,48,2155	44	47	46		393	-5.1	0	15	dbSNP_126	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MKRN3	NM_005664.3		0,49,6454	TT,TC,CC		0.0116,1.0894,0.3767		131/508	23811322	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811322C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.393C>T	15.37:g.23811322C>T						MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	p.G131G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	869	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	131						Silent	SNP	ENST00000314520.3	37	c.393C>T	CCDS10013.1																																																																																				0.622	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811322	C	T	23811322	2	4	33	1	0	0	0	0	0	0	0	1	9608	755	27	1		1	MKRN3	15	23811322	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	804660	23811322	78720070	51	2036											
CLCN7	1186	broad.mit.edu	37	chr16	1507700	1507700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcactttgttacctttcCcacggccaggcccccgacca	6	10	8	17	2	0	0	0	0	0	0	1	1	1	0	6	2	2	2	6	2	1	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:1507700C>T	ENST00000382745.4	-	8	1338	c.733G>A	c.(733-735)Gga>Aga	p.G245R	CLCN7_ENST00000448525.1_Missense_Mutation_p.G221R|CLCN7_ENST00000262318.8_Missense_Mutation_p.G221R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	245					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTTACCTTTCCCACGGCCAGG	0.632																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(733-735)Gga>Aga		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							77	69	72					16																	1507700		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507700C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.733G>A	16.37:g.1507700C>T	ENSP00000372193:p.Gly245Arg					CLCN7_uc002clw.2_Missense_Mutation_p.G221R	p.G245R	NM_001287	NP_001278	P51798	CLCN7_HUMAN			7	843	-		Hepatocellular(780;0.0893)	245					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.733G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663840	0.88251	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.99800	-6.8;-6.8	5.39	4.44	0.53790	Chloride channel, core (2);	0.051232	0.85682	D	0.000000	D	0.99869	0.9938	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96642	0.9475	10	0.87932	D	0	-14.676	12.5787	0.56378	0.0:0.9188:0.0:0.0812	.	221;245	E9PDB9;P51798	.;CLCN7_HUMAN	R	221;198;245;187	ENSP00000410907:G221R;ENSP00000372193:G245R	ENSP00000262318:G198R	G	-	1	0	CLCN7	1447701	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	5.489000	0.66875	1.271000	0.44313	0.561000	0.74099	GGA		0.632	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1507700	C	T	1507700	3	4	33	1	0	0	0	0	1	0	0	0	3468	632	22	3	1756	3	CLCN7	16	1507700	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		1507700	88847053	52	2037											
PKD1	5310	broad.mit.edu	37	chr16	2147417	2147417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcctggccccgtgccagCtgccgcagattgctacccac	5	6	10	20	3	0	1	0	0	0	1	0	1	0	1	7	1	5	3	7	1	1	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:2147417C>T	ENST00000262304.4	-	33	10516	c.10308G>A	c.(10306-10308)caG>caA	p.Q3436Q	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.Q3435Q|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3436					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGTGCCAGCTGCCGCAGAT	0.677																																						uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10306-10308)caG>caA		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							21	24	23					16																	2147417		2192	4290	6482	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147417C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10308G>A	16.37:g.2147417C>T						TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Q3435Q|PKD1_uc010bse.1_Non-coding_Transcript	p.Q3436Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			32	10517	-			3436					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.10308G>A	CCDS32369.1																																																																																				0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			T	2147417	C	T	2147417	2	4	33	1	0	0	0	0	0	0	0	1	11963	796	28	3		3	PKD1	16	2147417	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	639717	2147417	88207336	53	2038											
GPR139	124274	broad.mit.edu	37	chr16	20043354	20043354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcggttctggatgggCgccccatagaggtggtaaag	9	7	16	9	2	1	1	0	0	1	1	1	2	1	2	3	5	2	2	3	5	3	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:20043354C>T	ENST00000570682.1	-	2	1065	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	255					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532																																						uc002dgu.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(763-765)gcG>gcA		Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.							61	65	64					16																	20043354		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043354C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.765G>A	16.37:g.20043354C>T						GPR139_uc010vaw.1_Silent_p.A162A	p.A255A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			1	927	-			255					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.765G>A	CCDS32398.1																																																																																				0.532	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		T	20043354	C	T	20043354	2	4	33	1	0	0	0	0	0	0	0	1	6648	755	27	1		1	GPR139	16	20043354	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	17895937	20043354	70311399	54	2039											
KRT13	3860	broad.mit.edu	37	chr17	39659672	39659672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcctccacgctctggCgcagggccagctcattctca	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39659672C>T	ENST00000246635.3	-	3	648	c.602G>A	c.(601-603)cGc>cAc	p.R201H	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R201H|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R201H	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CACGCTCTGGCGCAGGGCCAG	0.478																																						uc002hwu.1																			1	Substitution - Missense(1)	p.R201H(2)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)cGc>cAc		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							64	64	64					17																	39659672		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659672C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.602G>A	17.37:g.39659672C>T	ENSP00000246635:p.Arg201His					KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc010wfr.2_Missense_Mutation_p.R94H|KRT13_uc010cxo.3_Missense_Mutation_p.R201H|KRT13_uc021txk.1_Missense_Mutation_p.R94H	p.R201H	NM_153490	NP_705694	P13646	K1C13_HUMAN			2	665	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.602G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813906	0.90790	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91945	-2.94;-2.94	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93808	0.8020	M	0.79693	2.465	0.80722	D	1	P;P;P;P	0.52842	0.956;0.869;0.841;0.869	P;P;B;P	0.50162	0.633;0.493;0.36;0.493	D	0.93115	0.6520	10	0.32370	T	0.25	.	17.5315	0.87816	0.0:1.0:0.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	H	201;201;189	ENSP00000246635:R201H;ENSP00000336604:R201H	ENSP00000157775:R189H	R	-	2	0	KRT13	36913198	0.996000	0.38824	1.000000	0.80357	0.960000	0.62799	3.198000	0.51035	2.444000	0.82710	0.561000	0.74099	CGC		0.478	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		T	39659672	C	T	39659672	3	4	33	1	0	0	0	0	1	0	0	0	8450	768	27	1	798	1	KRT13	17	39659672	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		39659672	41535538	55	2040											
KRT14	3861	broad.mit.edu	37	chr17	39741254	39741254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcatccgcggccagaCgggcattgtcaatctgcaga	10	7	13	11	3	3	2	2	0	1	2	4	3	4	3	2	3	1	2	2	3	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39741254C>T	ENST00000167586.6	-	2	667	c.581G>A	c.(580-582)cGt>cAt	p.R194H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	194	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCGGCCAGACGGGCATTGTC	0.502																																						uc002hxf.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(580-582)cGt>cAt		Homo sapiens keratin 14 (KRT14), mRNA.							99	79	85					17																	39741254		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39741254C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.581G>A	17.37:g.39741254C>T	ENSP00000167586:p.Arg194His					JUP_uc010wfs.2_Intron	p.R194H	NM_000526	NP_000517	P02533	K1C14_HUMAN			1	642	-		Breast(137;0.000307)	194			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.581G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919461	0.73098	.	.	ENSG00000186847	ENST00000167586	D	0.90069	-2.61	5.44	5.44	0.79542	Filament (1);	0.000000	0.49305	D	0.000151	D	0.87470	0.6185	M	0.63169	1.94	0.44123	D	0.9969	P	0.38565	0.637	B	0.40444	0.329	D	0.87839	0.2650	10	0.87932	D	0	.	10.1633	0.42864	0.0:0.8511:0.0:0.1489	.	194	P02533	K1C14_HUMAN	H	194	ENSP00000167586:R194H	ENSP00000167586:R194H	R	-	2	0	KRT14	36994780	0.790000	0.28787	1.000000	0.80357	0.992000	0.81027	1.475000	0.35409	2.710000	0.92621	0.643000	0.83706	CGT		0.502	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		T	39741254	C	T	39741254	3	4	33	1	0	0	0	0	1	0	0	0	8451	536	19	1	865	1	KRT14	17	39741254	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	81582	39741254	41453956	56	2041											
MED13	9969	broad.mit.edu	37	chr17	60060308	60060308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctccacgaggagtcCgaggagtccttggagtcctt	8	8	12	13	2	0	0	0	0	0	0	4	5	4	3	5	3	1	1	5	3	0	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:60060308C>T	ENST00000397786.2	-	16	3132	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1019					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGAGGAGTCCGAGGAGTCCT	0.512																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3055-3057)cGg>cAg		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							66	67	67					17																	60060308		1918	4129	6047	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60060308C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3056G>A	17.37:g.60060308C>T	ENSP00000380888:p.Arg1019Gln						p.R1019Q	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			15	3133	-			1019					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.3056G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094183	0.76870	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75050	-0.9	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.82793	0.5114	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.75950	-0.3137	10	0.12766	T	0.61	-24.427	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1019	Q9UHV7	MED13_HUMAN	Q	1019;1018	ENSP00000380888:R1019Q	ENSP00000262436:R1018Q	R	-	2	0	MED13	57415090	0.991000	0.36638	0.960000	0.40013	0.815000	0.46073	7.403000	0.79983	2.760000	0.94817	0.655000	0.94253	CGG		0.512	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60060308	C	T	60060308	3	4	33	1	0	0	0	0	1	0	0	0	9430	652	23	2	3528	2	MED13	17	60060308	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	20319054	60060308	21134902	57	2042											
TMEM146	257062	broad.mit.edu	37	chr19	5778542	5778542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgctacgcacagcacGcggccgcaggatcaagaagt	12	4	12	13	4	1	1	1	0	0	1	1	2	1	2	1	2	4	5	1	2	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:5778542G>A	ENST00000381624.3	+	22	2313	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	751					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CGCACAGCACGCGGCCGCAGG	0.612																																						uc002mda.3																			0											c.(2251-2253)cGc>cAc		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							52	58	56					19																	5778542		2103	4225	6328	SO:0001583	missense	257062					integral to membrane		g.chr19:5778542G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2252G>A	19.37:g.5778542G>A	ENSP00000371037:p.Arg751His						p.R751H	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			21	2313	+			751					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.2252G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364450	0.41902	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	T	0.25414	1.8	3.37	-6.73	0.01749	.	2.326680	0.02508	N	0.091238	T	0.24353	0.0590	L	0.36672	1.1	0.09310	N	1	D	0.59357	0.985	P	0.49683	0.619	T	0.45745	-0.9240	10	0.72032	D	0.01	.	5.1405	0.14955	0.2053:0.0:0.516:0.2787	.	751	Q86XM0	TM146_HUMAN	H	751;420	ENSP00000371037:R751H	ENSP00000371026:R420H	R	+	2	0	TMEM146	5729542	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.514000	0.00445	-1.865000	0.01147	-0.378000	0.06908	CGC		0.612	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		A	5778542	G	A	5778542	3	1	33	1	0	0	0	0	1	0	0	0	16057	1087	38	1	2338	1	TMEM146	19	5778542	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		5778542	53350441	58	2043											
MUC16	94025	broad.mit.edu	37	chr19	9067788	9067788	+	Frame_Shift_Del	DEL	G	G	-																															ccacagatgccagcatatctGtggtcttcactaggccagag																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:9067788delG	ENST00000397910.4	-	3	19861	c.19658delC	c.(19657-19659)acafs	p.T6553fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6555	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCATATCTGTGGTCTTCAC	0.473																																						uc002mkp.3																			0		p.T6552A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19657-19659)acafs		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							88	79	82					19																	9067788		1919	4116	6035	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067788delG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19658delC	19.37:g.9067788delG	ENSP00000381008:p.Thr6553fs						p.T6553fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	19862	-			6555			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.19658delC	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9067788	G	-	9067788	7	5	33	1	0	1	0	1	0	0	0	0	9973	1377	48	0	24193	0	MUC16	19	9067788	Frame_Shift_Del	DEL	G	TCGA-06-0169-01A-01D-1490-08	3289246	9067788	50061195	59	2044											
PAPL	390928	broad.mit.edu	37	chr19	39591660	39591660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccatgtactgctccaaCgcagatctggacgactgcac	9	7	10	15	3	1	1	0	0	1	1	2	3	2	2	2	2	4	4	2	2	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:39591660C>T	ENST00000331256.5	+	8	1153	c.879C>T	c.(877-879)aaC>aaT	p.N293N	PAPL_ENST00000594229.1_Missense_Mutation_p.T252M	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		293						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										ACTGCTCCAACGCAGATCTGG	0.612																																						uc002oki.3																			0											c.(877-879)aaC>aaT		Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.							72	73	73					19																	39591660		2203	4300	6503	SO:0001819	synonymous_variant	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591660C>T																												ENST00000331256.5:c.879C>T	19.37:g.39591660C>T						PAPL_uc010egl.3_Missense_Mutation_p.T252M	p.N293N	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			7	1153	+			293					B2RN68	Silent	SNP	ENST00000331256.5	37	c.879C>T	CCDS33018.1																																																																																				0.612	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			T	39591660	C	T	39591660	2	4	33	1	0	0	0	0	0	0	0	1	11427	535	19	1		1	PAPL	19	39591660	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	30523872	39591660	19537323	60	2045											
KDELR1	10945	broad.mit.edu	37	chr19	48887570	48887570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcgatgaggtcgaagaagCcctcgaaatggtagcgccag	11	6	15	9	4	0	2	0	1	0	1	2	5	0	2	2	3	2	1	2	3	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:48887570C>T	ENST00000330720.2	-	4	715	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KDELR1_ENST00000597017.1_Missense_Mutation_p.G112D	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	174					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCGAAGAAGCCCTCGAAATG	0.542																																						uc002pjb.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(520-522)gGc>gAc		Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.							83	70	75					19																	48887570		2203	4300	6503	SO:0001583	missense	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887570C>T	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.521G>A	19.37:g.48887570C>T	ENSP00000329471:p.Gly174Asp					KDELR1_uc002pja.1_Missense_Mutation_p.G112D	p.G174D	NM_006801	NP_006792	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	716	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	174					B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	c.521G>A	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967292	0.34754	.	.	ENSG00000105438	ENST00000330720	T	0.78364	-1.17	4.68	3.64	0.41730	.	0.000000	0.64402	D	0.000010	T	0.59810	0.2221	N	0.20445	0.575	0.50171	D	0.999856	B	0.02656	0.0	B	0.08055	0.003	T	0.51957	-0.8639	10	0.18710	T	0.47	.	9.2839	0.37744	0.0:0.8247:0.0:0.1753	.	174	P24390	ERD21_HUMAN	D	174	ENSP00000329471:G174D	ENSP00000329471:G174D	G	-	2	0	KDELR1	53579382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.029000	0.41098	1.340000	0.45581	0.655000	0.94253	GGC		0.542	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			T	48887570	C	T	48887570	3	4	33	1	0	0	0	0	1	0	0	0	8119	739	26	3	125	3	KDELR1	19	48887570	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	9295910	48887570	10241413	61	2046											
TRPM4	54795	broad.mit.edu	37	chr19	49705399	49705400	+	Splice_Site	INS	-	-	T																															tgctcattgccatgttcaggINStgaggcctgactgctctctg																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:49705399_49705400insT	ENST00000252826.5	+	20	3257		c.e20+1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCATGTTCAGGTGAGGCCTGAC	0.55																																						uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e20+1		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49705399_49705400insT	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3131+1->T	19.37:g.49705400_49705400dupT						TRPM4_uc010emu.3_Splice_Site_p.S899_splice|TRPM4_uc010yak.2_Splice_Site_p.S508_splice|TRPM4_uc002pmx.3_Splice_Site_p.S870_splice|TRPM4_uc010emv.3_Splice_Site_p.S929_splice|TRPM4_uc010yal.2_Splice_Site_p.S690_splice|TRPM4_uc002pmy.3_Splice_Site_p.S386_splice	p.S1044_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	20	3239	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1044					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	INS	ENST00000252826.5	37	c.3131_splice	CCDS33073.1																																																																																				0.55	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Intron	T	49705400	-	T	49705399	8	5	33	1	0	1	1	0	0	0	1	0	16585	1275	44	0	3210	0	TRPM4	19	49705399	Splice_Site	INS	-	TCGA-06-0169-01A-01D-1490-08	817829	49705399	9423584	62	2047											
SLC24A3	57419	broad.mit.edu	37	chr20	19677519	19677519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctgctgggaccagcgtgCctgactgcatggccagcctc	5	8	14	14	1	0	1	0	1	0	0	1	2	0	2	4	3	5	3	4	3	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:19677519C>T	ENST00000328041.6	+	14	1767	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	524					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCAGCGTGCCTGACTGCAT	0.592																																						uc002wrl.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1570-1572)Cct>Tct		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.							97	79	85					20																	19677519		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677519C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1570C>T	20.37:g.19677519C>T	ENSP00000333519:p.Pro524Ser						p.P524S	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			13	1767	+			524					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1570C>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072509	0.93950	.	.	ENSG00000185052	ENST00000328041	T	0.70869	-0.52	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89788	0.3966	9	.	.	.	.	18.6103	0.91283	0.0:1.0:0.0:0.0	.	524	Q9HC58	NCKX3_HUMAN	S	524	ENSP00000333519:P524S	.	P	+	1	0	SLC24A3	19625519	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.789000	0.85783	2.695000	0.91970	0.561000	0.74099	CCT		0.592	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		T	19677519	C	T	19677519	3	4	33	1	0	0	0	0	1	0	0	0	14467	739	26	3	1624	3	SLC24A3	20	19677519	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		19677519	43348001	63	2048											
ZSWIM1	90204	broad.mit.edu	37	chr20	44512381	44512381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctgccagctgcagcTgctactttaaccaggccttc	7	9	8	17	0	0	0	0	0	0	0	1	0	0	0	5	1	8	4	5	1	2	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:44512381T>C	ENST00000372523.1	+	2	1245	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.C384R	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	384						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAGCTGCAGCTGCTACTTTAA	0.597																																						uc021wem.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(1150-1152)Tgc>Cgc		Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.							43	49	47					20																	44512381		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44512381T>C	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.1150T>C	20.37:g.44512381T>C	ENSP00000361601:p.Cys384Arg					ZSWIM1_uc010ghi.3_Missense_Mutation_p.C384R	p.C384R	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN			0	1150	+		Myeloproliferative disorder(115;0.028)	384					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.1150T>C	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386152	0.61956	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.80480	-1.38;-1.38	5.27	5.27	0.74061	Zinc finger, SWIM-type (2);	0.000000	0.64402	U	0.000012	D	0.84714	0.5533	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86669	0.1909	10	0.87932	D	0	-12.8618	15.3726	0.74577	0.0:0.0:0.0:1.0	.	384	Q9BR11	ZSWM1_HUMAN	R	384	ENSP00000361601:C384R;ENSP00000361598:C384R	ENSP00000361598:C384R	C	+	1	0	ZSWIM1	43945788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.982000	0.63825	2.209000	0.71365	0.533000	0.62120	TGC		0.597	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		C	44512381	T	C	44512381	3	2	33	1	0	0	0	0	1	0	0	0	18237	1580	55	4	1152	4	ZSWIM1	20	44512381	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	24834862	44512381	18513139	64	2049											
COL20A1	57642	broad.mit.edu	37	chr20	61938888	61938888	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtgcctgctgacatggtCttcctggtggacgggtcctg	3	11	14	13	2	1	1	0	1	1	0	3	2	3	2	4	4	2	1	4	4	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:61938888C>G	ENST00000358894.6	+	6	643	c.543C>G	c.(541-543)gtC>gtG	p.V181V	COL20A1_ENST00000326996.6_Silent_p.V181V|COL20A1_ENST00000435874.1_Silent_p.V188V|COL20A1_ENST00000422202.1_Silent_p.V188V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	181	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACATGGTCTTCCTGGTGG	0.652																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(541-543)gtC>gtG		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							35	40	38					20																	61938888		2039	4166	6205	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61938888C>G	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.543C>G	20.37:g.61938888C>G						COL20A1_uc011aav.2_Silent_p.V2V	p.V181V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			5	643	+	all_cancers(38;1.39e-10)		181			VWFA.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.543C>G	CCDS46628.1																																																																																				0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		G	61938888	C	G	61938888	2	3	33	1	0	0	0	0	0	0	0	1	3679	900	32	5		5	COL20A1	20	61938888	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	17426507	61938888	1086632	65	2050											
TMPRSS2	7113	broad.mit.edu	37	chr21	42842599	42842599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggtggccccccaccCggaaatccagcagagctgtt	7	7	10	17	2	0	1	0	0	0	1	3	2	2	2	6	3	2	3	6	3	1	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr21:42842599C>T	ENST00000332149.5	-	11	1281	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.G383R|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.G420R	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	383	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCCCCCCACCCGGAAATCCAG	0.582			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	uc010gor.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1258-1260)Ggg>Agg		Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.							50	49	49					21																	42842599		2202	4299	6501	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42842599C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1147G>A	21.37:g.42842599C>T	ENSP00000330330:p.Gly383Arg					TMPRSS2_uc002yzj.3_Missense_Mutation_p.G383R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	p.G420R	NM_001135099	NP_005647	O15393	TMPS2_HUMAN			10	1319	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	383			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.1258G>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885737	0.72410	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.181068	0.37715	N	0.001976	D	0.97275	0.9109	H	0.98446	4.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98855	1.0760	10	0.87932	D	0	.	15.5134	0.75802	0.0:1.0:0.0:0.0	.	420;383	F8WES1;O15393	.;TMPS2_HUMAN	R	383;420;383;383	ENSP00000330330:G383R;ENSP00000381588:G420R;ENSP00000391216:G383R;ENSP00000389006:G383R	ENSP00000330330:G383R	G	-	1	0	TMPRSS2	41764469	1.000000	0.71417	0.971000	0.41717	0.472000	0.32918	6.299000	0.72770	2.250000	0.74265	0.467000	0.42956	GGG		0.582	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			T	42842599	C	T	42842599	3	4	33	1	0	0	0	0	1	0	0	0	16244	652	23	2	347	2	TMPRSS2	21	42842599	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		42842599	5287296	66	2051											
FBXO7	25793	broad.mit.edu	37	chr22	32887162	32887162	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcttctggcttttaccCgacaaggtaagagatgaaat	12	12	8	9	1	2	2	0	1	2	1	3	4	3	2	2	2	1	2	2	2	4	4	rs369105683		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:32887162C>T	ENST00000266087.7	+	6	1288	c.961C>T	c.(961-963)Cga>Tga	p.R321*	FBXO7_ENST00000382058.3_Nonsense_Mutation_p.R242*|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.R207*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	321	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTTTACCCGACAAGGTAA	0.368																																						uc003amq.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(961-963)Cga>Tga		Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG	0,4406		0,0,2203	69	71	70		724,961	3.5	1	22		70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	FBXO7	NM_001033024.1,NM_012179.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	242/444,321/523	32887162	1,13005	2203	4300	6503	SO:0001587	stop_gained	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32887162C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.961C>T	22.37:g.32887162C>T	ENSP00000266087:p.Arg321*					FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Nonsense_Mutation_p.R242*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R207*|FBXO7_uc003amv.3_5'Flank	p.R321*	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			5	1244	+			321					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Nonsense_Mutation	SNP	ENST00000266087.7	37	c.961C>T	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	39	7.492071	0.98319	0.0	1.16E-4	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	.	.	.	5.63	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-12.2703	14.7979	0.69891	0.2547:0.7453:0.0:0.0	.	.	.	.	X	321;242;207	.	ENSP00000266087:R321X	R	+	1	2	FBXO7	31217162	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.948000	0.49066	0.688000	0.31529	0.650000	0.86243	CGA		0.368	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			T	32887162	C	T	32887162	4	4	33	1	0	0	0	0	0	1	0	0	5760	644	23	2	1024	2	FBXO7	22	32887162	Nonsense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		32887162	18417404	67	2052											
EIF2S3	1968	broad.mit.edu	37	chrX	24094874	24094877	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															tcagataagaagaggagtgaCaatcaagccaacagtagatg																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:24094874_24094877delCAAT	ENST00000253039.4	+	12	1644_1647	c.1391_1394delCAAT	c.(1390-1395)acaatcfs	p.TI464fs		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	464					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGGAGTGACAATCAAGCCAACA	0.348																																						uc004dbc.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(1390-1395)acaatcfs		Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.																																				SO:0001589	frameshift_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24094874_24094877delCAAT	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1391_1394delCAAT	X.37:g.24094874_24094877delCAAT	ENSP00000253039:p.Thr464fs						p.T464fs	NM_001415	NP_001406	P41091	IF2G_HUMAN			11	1412_1415	+			464					B5BTZ4	Frame_Shift_Del	DEL	ENST00000253039.4	37	c.1391_1394delCAAT	CCDS14210.1																																																																																				0.348	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		-	24094877	CAAT	-	24094874	7	5	33	1	0	1	0	1	0	0	0	0	5011	478	17	0	1437	0	EIF2S3	23	24094874	Frame_Shift_Del	DEL	CAAT	TCGA-06-0169-01A-01D-1490-08		24094874	131175686	68	2053											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																								rs369450592		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					uc004ebi.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gaggac>gac		Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del						p.E221del	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			0	1045_1047	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		-	72433666	TCC	-	72433664	7	5	33	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-06-0169-01A-01D-1490-08	48338790	72433664	82836896	69	2054											
TMCO4	255104	broad.mit.edu	37	chr1	20107156	20107156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttggcctcagtcagctcCcggcccgtgggcaggtgtgg	3	8	17	13	3	2	0	2	0	0	0	3	0	3	0	3	6	1	3	3	6	0	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:20107156C>T	ENST00000294543.6	-	4	337	c.96G>A	c.(94-96)cgG>cgA	p.R32R	TMCO4_ENST00000375122.2_Silent_p.R32R|TMCO4_ENST00000375127.1_Silent_p.R32R	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	32						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTCAGCTCCCGGCCCGTGG	0.612																																						uc001bcn.3																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(94-96)cgG>cgA		Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.							48	49	49					1																	20107156		2203	4300	6503	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20107156C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.96G>A	1.37:g.20107156C>T						TMCO4_uc001bco.1_Silent_p.R32R|TMCO4_uc001bcp.1_Silent_p.R32R|TMCO4_uc009vpn.1_Silent_p.R32R|TMCO4_uc001bcq.1_Silent_p.R32R	p.R32R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	3	338	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	32					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.96G>A	CCDS198.1																																																																																				0.612	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		T	20107156	C	T	20107156	2	4	34	1	0	0	0	0	0	0	0	1	15995	610	22	3		3	TMCO4	1	20107156	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08		20107156	229143465	1	2055											
ARID1A	8289	broad.mit.edu	37	chr1	27101098	27101098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatttccattccagtttggCcgagaccgtgtctctgcacc	7	12	8	14	2	1	1	0	0	1	1	4	2	3	1	5	1	1	2	5	1	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:27101098C>T	ENST00000324856.7	+	18	4751	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4378-4380)ggC>ggT		Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.							69	73	71					1																	27101098		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101098C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4380C>T	1.37:g.27101098C>T						ARID1A_uc001bmt.1_Silent_p.G1459G|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.G1077G|ARID1A_uc001bmx.1_Silent_p.G306G|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.G1460G	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	17	4753	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1460					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4380C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440456	0.12104	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-10.3623	11.4825	0.50333	0.1412:0.7231:0.1357:0.0	.	.	.	.	S	357	.	.	P	+	1	0	ARID1A	26973685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.537000	0.36083	1.558000	0.49541	0.650000	0.86243	CCG		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27101098	C	T	27101098	2	4	34	1	0	0	0	0	0	0	0	1	913	726	26	3		3	ARID1A	1	27101098	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	6993942	27101098	222149523	2	2056											
GNL2	29889	broad.mit.edu	37	chr1	38049466	38049466	+	Splice_Site	DEL	A	A	-																															ggagagaatttaggagtcttAccttgtagagctcaccccat																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:38049466delA	ENST00000373062.3	-	6	735		c.e6+1			NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)						GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGGAGTCTTACCTTGTAGAG	0.383																																						uc001cbk.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.e6+1		Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.							182	164	170					1																	38049466		2203	4300	6503	SO:0001630	splice_region_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38049466delA	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.636+1T>-	1.37:g.38049466delA						GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR	p.K212_splice	NM_013285	NP_037417	Q13823	NOG2_HUMAN			6	799	-		Myeloproliferative disorder(586;0.0393)	212					Q9BWN7	Splice_Site	DEL	ENST00000373062.3	37	c.636_splice	CCDS421.1																																																																																				0.383	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	Intron	-	38049466	A	-	38049466	8	5	34	1	0	1	0	1	0	0	1	0	6536	405	14	0	1601	0	GNL2	1	38049466	Splice_Site	DEL	A	TCGA-06-0173-01A-01D-1491-08	10948368	38049466	211201155	3	2057											
ISG20L2	81875	broad.mit.edu	37	chr1	156697400	156697400	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctaatgcctttttGggaggaggttccccaaaatc	8	15	8	10	0	1	0	0	0	1	0	4	2	3	2	4	3	1	1	4	3	3	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:156697400G>C	ENST00000313146.6	-	1	827	c.45C>G	c.(43-45)ccC>ccG	p.P15P	ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000368219.1_Silent_p.P15P	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	15					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCCTTTTTGGGAGGAGGTT	0.458																																						uc001fps.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(43-45)ccC>ccG		Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.							69	77	74					1																	156697400		2203	4300	6503	SO:0001819	synonymous_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156697400G>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.45C>G	1.37:g.156697400G>C						ISG20L2_uc001fpt.1_Silent_p.P15P|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	p.P15P	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN			0	306	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		15					D3DVC6|Q64KA2	Silent	SNP	ENST00000313146.6	37	c.45C>G	CCDS1153.1																																																																																				0.458	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		C	156697400	G	C	156697400	2	2	34	1	0	0	0	0	0	0	0	1	7855	1335	47	5		5	ISG20L2	1	156697400	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	118647934	156697400	92553221	4	2058											
NFASC	23114	broad.mit.edu	37	chr1	204943900	204943900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatctacacctgtgtcGccaccaacatcctgggcaaa	11	7	9	14	1	1	0	0	0	1	0	3	0	2	0	4	2	2	2	4	2	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:204943900G>A	ENST00000401399.1	+	13	1706	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	NFASC_ENST00000513543.1_Missense_Mutation_p.A514T|NFASC_ENST00000367169.4_Missense_Mutation_p.A503T|NFASC_ENST00000403080.1_Missense_Mutation_p.A503T|NFASC_ENST00000338586.6_Missense_Mutation_p.A503T|NFASC_ENST00000367171.4_Missense_Mutation_p.A503T|NFASC_ENST00000338515.6_Missense_Mutation_p.A503T|NFASC_ENST00000539706.1_Missense_Mutation_p.A514T|NFASC_ENST00000367170.4_Missense_Mutation_p.A503T|NFASC_ENST00000404907.1_Missense_Mutation_p.A514T|NFASC_ENST00000367172.4_Missense_Mutation_p.A503T|NFASC_ENST00000404076.1_Missense_Mutation_p.A497T|NFASC_ENST00000360049.4_Missense_Mutation_p.A514T|NFASC_ENST00000339876.6_Missense_Mutation_p.A503T			O94856	NFASC_HUMAN	neurofascin	503	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.A503T(2)|p.A514T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGTGTCGCCACCAACAT	0.532																																						uc010prc.2																			3	Substitution - Missense(3)	p.A503T(2)|p.A514T(1)|p.W69*(1)	endometrium(3)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(208-210)Gcc>Acc		Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.							132	122	125					1																	204943900		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204943900G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1507G>A	1.37:g.204943900G>A	ENSP00000385637:p.Ala503Thr					NFASC_uc001hbh.3_Missense_Mutation_p.A503T|NFASC_uc010pqz.2_Missense_Mutation_p.A497T|NFASC_uc001hbj.3_Missense_Mutation_p.A503T|NFASC_uc010pra.2_Missense_Mutation_p.A514T|NFASC_uc001hbi.3_Missense_Mutation_p.A514T|NFASC_uc010prb.2_Missense_Mutation_p.A514T|NFASC_uc001hbk.1_Missense_Mutation_p.A324T	p.A70T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		12	1737	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		503			Ig-like C2-type 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.208G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878651	0.97055	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000069	D	0.91700	0.7376	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.988;0.974;0.997;0.974;0.963;0.983	D	0.93077	0.6488	10	0.87932	D	0	.	19.7118	0.96099	0.0:0.0:1.0:0.0	.	503;514;514;503;503;514;503	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	NFASC_HUMAN;.;.;.;.;.;.	T	503;503;503;503;503;503;514;514;514;503;503;497;503;514;514;490	ENSP00000356140:A503T;ENSP00000356139:A503T;ENSP00000356138:A503T;ENSP00000342128:A503T;ENSP00000344786:A503T;ENSP00000343509:A503T;ENSP00000438614:A514T;ENSP00000353154:A514T;ENSP00000356137:A503T;ENSP00000384875:A503T;ENSP00000385676:A497T;ENSP00000385637:A503T;ENSP00000384061:A514T;ENSP00000425908:A514T;ENSP00000415031:A490T	ENSP00000295776:A514T	A	+	1	0	NFASC	203210523	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.869000	0.99810	2.764000	0.94973	0.485000	0.47835	GCC		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		A	204943900	G	A	204943900	3	1	34	1	0	0	0	0	1	0	0	0	10359	1087	38	1	1608	1	NFASC	1	204943900	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	48246500	204943900	44306721	5	2059											
OBSCN	84033	broad.mit.edu	37	chr1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggcccctggcacaCgcctggccaagttccagctc	6	7	11	17	1	0	0	0	0	0	0	3	0	2	0	6	4	1	3	6	4	1	1	rs564170262		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:228520994C>T	ENST00000422127.1	+	58	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2910C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2395C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5276C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6233C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5276	Ig-like 50.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGGCACACGCCTGGCCAA	0.637													C|||	1	0.000199681	0	0	5008	,	,		17603	0.001		0	False		,,,				2504	0					uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15826-15828)Cgc>Tgc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							11	14	13					1																	228520994		1999	4132	6131	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228520994C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15826C>T	1.37:g.228520994C>T	ENSP00000409493:p.Arg5276Cys					OBSCN_uc001hsn.3_Missense_Mutation_p.R5276C|OBSCN_uc001hsr.1_5'Flank	p.R5276C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			57	15870	+		Prostate(94;0.0405)	5276			Ig-like 50.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15826C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958704	0.92726	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149514	0.43579	D	0.000550	T	0.60483	0.2272	M	0.74467	2.265	0.44366	D	0.99726	D;D	0.76494	0.999;0.998	P;P	0.60609	0.877;0.804	T	0.61535	-0.7043	10	0.51188	T	0.08	.	14.3599	0.66764	0.0:0.9273:0.0:0.0727	.	5276;5276	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5276;5276;2910;2395	ENSP00000284548:R5276C;ENSP00000409493:R5276C;ENSP00000355668:R2910C;ENSP00000355670:R2395C	ENSP00000284548:R5276C	R	+	1	0	OBSCN	226587617	0.528000	0.26314	1.000000	0.80357	0.972000	0.66771	2.567000	0.45956	2.745000	0.94114	0.561000	0.74099	CGC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228520994	C	T	228520994	3	4	34	1	0	0	0	0	1	0	0	0	10812	536	19	1	16052	1	OBSCN	1	228520994	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	23577094	228520994	20729627	6	2060											
OR2W5	441932	broad.mit.edu	37	chr1	247654765	247654765	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgggctccaccgagtgCgtcctcctggttgtcatgtc	4	12	12	13	2	1	0	1	0	0	0	5	1	4	0	4	2	2	3	4	2	0	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:247654765C>T	ENST00000522351.1	+	0	396							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602																																						uc001icz.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39						c.(334-336)tgC>tgT		Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.							101	94	96					1																	247654765		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654765C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654765C>T							p.C112C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	396	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	112					B9EH85	Silent	SNP	ENST00000522351.1	37	c.336C>T																																																																																					0.602	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		T	247654765	C	T	247654765	1	4	34	0	1	0	0	0	0	0	0	0	11034	776	27	1		1	OR2W5	1	247654765	RNA	SNP	C	TCGA-06-0173-01A-01D-1491-08	19133771	247654765	1595856	7	2061											
APOB	338	broad.mit.edu	37	chr2	21235218	21235218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagccggccagtgttaggatCcctctgacaagacaggccat	10	7	12	12	1	1	2	0	1	1	1	2	4	2	3	4	3	1	1	4	3	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:21235218C>T	ENST00000233242.1	-	26	4649	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1508					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTTAGGATCCCTCTGACAA	0.458																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4522-4524)Gat>Aat		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						134	129	131					2																	21235218		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235218C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4522G>A	2.37:g.21235218C>T	ENSP00000233242:p.Asp1508Asn						p.D1508N	NM_000384	NP_000375	P04114	APOB_HUMAN			25	4650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1508					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4522G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291447	0.23564	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00691	5.84	5.88	5.01	0.66863	.	0.096384	0.45126	D	0.000387	T	0.00754	0.0025	L	0.27053	0.805	0.29258	N	0.871525	B	0.18461	0.028	B	0.13407	0.009	T	0.37709	-0.9694	10	0.15066	T	0.55	.	11.5054	0.50463	0.0:0.8466:0.0:0.1534	.	1508	P04114	APOB_HUMAN	N	1508	ENSP00000233242:D1508N	ENSP00000233242:D1508N	D	-	1	0	APOB	21088723	0.525000	0.26290	0.737000	0.30932	0.306000	0.27790	0.987000	0.29603	1.495000	0.48549	0.655000	0.94253	GAT		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21235218	C	T	21235218	3	4	34	1	0	0	0	0	1	0	0	0	785	855	30	3	9185	3	APOB	2	21235218	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		21235218	221964155	8	2062											
GPR113	165082	broad.mit.edu	37	chr2	26533656	26533656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgaggccaaagatGggtgtaagaatgagcagggc	12	5	16	8	0	0	4	0	2	0	2	0	4	0	4	3	4	1	2	3	4	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:26533656G>T	ENST00000311519.1	-	11	2939	c.2940C>A	c.(2938-2940)ccC>ccA	p.P980P	GPR113_ENST00000541401.1_Silent_p.P583P|GPR113_ENST00000333478.6_Silent_p.P781P|GPR113_ENST00000421160.2_Silent_p.P911P|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	980					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGATGGGTGTAAGAA	0.572																																						uc002rhe.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(2938-2940)ccC>ccA		Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.							36	34	35					2																	26533656		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533656G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2940C>A	2.37:g.26533656G>T						GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_Non-coding_Transcript	p.P980P	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			10	2940	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		980					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2940C>A	CCDS46239.1																																																																																				0.572	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		T	26533656	G	T	26533656	2	4	34	1	0	0	0	0	0	0	0	1	6630	1335	47	5		5	GPR113	2	26533656	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	5298438	26533656	216665717	9	2063											
NBEAL1	65065	broad.mit.edu	37	chr2	204002914	204002914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgttagaatgggcaaTctcagaaaacagagaagcaa	20	6	10	5	0	1	4	1	0	1	4	2	5	1	4	0	1	2	3	0	1	8	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:204002914T>C	ENST00000449802.1	+	29	4841	c.4508T>C	c.(4507-4509)aTc>aCc	p.I1503T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1503										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGGGCAATCTCAGAAAAC	0.373																																						uc002uzt.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4507-4509)aTc>aCc		Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.							84	75	78					2																	204002914		1849	4095	5944	SO:0001583	missense	65065						binding	g.chr2:204002914T>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4508T>C	2.37:g.204002914T>C	ENSP00000399903:p.Ile1503Thr					NBEAL1_uc021vvj.1_Missense_Mutation_p.I206T	p.I1503T	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			28	4841	+			1503					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4508T>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179246	0.57800	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54479	0.57	5.61	5.61	0.85477	.	1.334980	0.04496	N	0.380472	T	0.45377	0.1339	N	0.14661	0.345	0.31560	N	0.657621	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.01	T	0.36720	-0.9736	10	0.72032	D	0.01	.	15.4709	0.75439	0.0:0.0:0.0:1.0	.	1503;1492	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	T	1503	ENSP00000399903:I1503T	ENSP00000344985:I1503T	I	+	2	0	NBEAL1	203711159	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	7.339000	0.79282	2.141000	0.66446	0.533000	0.62120	ATC		0.373	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			C	204002914	T	C	204002914	3	2	34	1	0	0	0	0	1	0	0	0	10188	1435	50	4	4618	4	NBEAL1	2	204002914	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	177469258	204002914	39196459	10	2064											
MARCH4	57574	broad.mit.edu	37	chr2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaggagaccctggtggCgcaacatctggggggctggg	7	7	18	9	1	1	2	0	1	1	1	1	3	1	2	1	7	1	2	1	7	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:217234886C>T	ENST00000273067.4	-	1	1864	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	33						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632																																						uc002vgb.3																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(97-99)cGc>cAc		Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.							17	20	19					2																	217234886		2201	4296	6497	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234886C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.98G>A	2.37:g.217234886C>T	ENSP00000273067:p.Arg33His						p.R33H	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	0	1865	-		Renal(323;0.0854)	33					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.98G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683169	0.68157	.	.	ENSG00000144583	ENST00000273067	T	0.21191	2.02	5.24	3.46	0.39613	.	0.478369	0.24472	N	0.038224	T	0.15609	0.0376	L	0.29908	0.895	0.50813	D	0.999898	B	0.12013	0.005	B	0.09377	0.004	T	0.04242	-1.0966	10	0.87932	D	0	-19.621	9.9721	0.41761	0.0:0.7738:0.0:0.2262	.	33	Q9P2E8	MARH4_HUMAN	H	33	ENSP00000273067:R33H	ENSP00000273067:R33H	R	-	2	0	MARCH4	216943131	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.162000	0.58177	0.799000	0.34018	-0.229000	0.12294	CGC		0.632	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		T	217234886	C	T	217234886	3	4	34	1	0	0	0	0	1	0	0	0	9303	768	27	1	1150	1	MARCH4	2	217234886	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	13231972	217234886	25964487	11	2065											
SPP2	6694	broad.mit.edu	37	chr2	234959451	234959451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatttccagaatggagaaGatgacgatgatgatgaagat	16	10	12	3	1	0	9	0	5	0	4	1	11	1	9	1	1	0	0	1	1	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234959451G>A	ENST00000168148.3	+	1	109	c.21G>A	c.(19-21)aaG>aaA	p.K7K	SPP2_ENST00000373368.1_Silent_p.K7K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	7					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGGAGAAGATGACGATGA	0.423																																						uc002vvk.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(19-21)aaG>aaA		Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.							262	234	243					2																	234959451		2203	4300	6503	SO:0001819	synonymous_variant	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959451G>A		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.21G>A	2.37:g.234959451G>A						SPP2_uc010fyl.1_5'UTR	p.K7K	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	0	106	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	7					A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	c.21G>A	CCDS2511.1																																																																																				0.423	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		A	234959451	G	A	234959451	2	1	34	1	0	0	0	0	0	0	0	1	15086	933	33	3		3	SPP2	2	234959451	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	17724565	234959451	8239922	12	2066											
ARPC4	10093	broad.mit.edu	37	chr3	9839460	9839463	+	Splice_Site	DEL	AGGT	AGGT	-																															acaagccggaagtggaagtcAggtagggaaggacaagtcaa																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:9839460_9839463delAGGT	ENST00000397261.3	+	2	685_686	c.121_122delAGGT	c.(121-123)agg>g	p.R41fs	ARPC4_ENST00000433034.1_Splice_Site_p.R60fs|ARPC4-TTLL3_ENST00000397256.1_Splice_Site_p.R41fs|ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000287613.7_5'UTR	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	41					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					AGTGGAAGTCAGGTAGGGAAGGAC	0.564																																						uc003btd.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.e2+1		Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.																																				SO:0001630	splice_region_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9839460_9839463delAGGT	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"Actin related protein 2/3 complex subunits"	707	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p20", "actin related protein 2/3 complex, subunit 4 (20 kD)"	604226	"actin related protein 2/3 complex, subunit 4 (20 kD)"			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.122+1AGGT>-	3.37:g.9839460_9839463delAGGT						TTLL3_uc003btb.2_Splice_Site|TTLL3_uc003bta.2_Splice_Site|TTLL3_uc003bsz.2_Splice_Site_p.R41_splice|TTLL3_uc003btc.2_Splice_Site|TTLL3_uc021wsu.1_Splice_Site_p.R60_splice	p.R41_splice	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN			2	696	+	Medulloblastoma(99;0.227)		0					C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Splice_Site	DEL	ENST00000397261.3	37	c.122_splice	CCDS43047.1																																																																																				0.564	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959	Frame_Shift_Del	-	9839463	AGGT	-	9839460	8	5	34	1	0	1	0	1	0	0	1	0	973	202	7	0	127	0	ARPC4	3	9839460	Splice_Site	DEL	AGGT	TCGA-06-0173-01A-01D-1491-08		9839460	188182970	13	2067											
GUCA1C	9626	broad.mit.edu	37	chr3	108627021	108627021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggagatcctgatcttttgCcatgccattgataaattctt	10	15	7	9	0	2	3	0	2	2	1	3	4	3	3	3	1	2	0	3	1	2	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:108627021C>A	ENST00000261047.3	-	4	610	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GUCA1C_ENST00000393963.3_Missense_Mutation_p.G173V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	160	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGATCTTTTGCCATGCCATTG	0.398																																					NSCLC(157;1360 1999 30631 40189 44208)	uc003dxj.2																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						c.(478-480)Gca>Tca		Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.							86	83	84					3																	108627021		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108627021C>A	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.478G>T	3.37:g.108627021C>A	ENSP00000261047:p.Ala160Ser					GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	p.A160S	NM_005459	NP_005450	O95843	GUC1C_HUMAN			3	546	-			160			EF-hand 4.		O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.478G>T	CCDS2954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.239|8.239	0.806308|0.806308	0.16467|0.16467	.|.	.|.	ENSG00000138472|ENSG00000138472	ENST00000261047|ENST00000393963	T|T	0.66280|0.71698	-0.2|-0.59	5.67|5.67	2.58|2.58	0.30949|0.30949	EF-hand-like domain (1);|.	0.547980|.	0.21017|.	N|.	0.081581|.	T|T	0.40015|0.40015	0.1100|0.1100	N|N	0.02202|0.02202	-0.64|-0.64	0.09310|0.09310	N|N	1|1	B|B	0.10296|0.30455	0.003|0.28	B|B	0.10450|0.23852	0.005|0.049	T|T	0.21314|0.21314	-1.0249|-1.0249	10|9	0.56958|0.20519	D|T	0.05|0.43	.|.	8.1877|8.1877	0.31348|0.31348	0.0:0.7019:0.0:0.2981|0.0:0.7019:0.0:0.2981	.|.	160|173	O95843|C9JNI2	GUC1C_HUMAN|.	S|V	160|173	ENSP00000261047:A160S|ENSP00000377535:G173V	ENSP00000261047:A160S|ENSP00000377535:G173V	A|G	-|-	1|2	0|0	GUCA1C|GUCA1C	110109711|110109711	0.082000|0.082000	0.21442|0.21442	0.000000|0.000000	0.03702|0.03702	0.293000|0.293000	0.27360|0.27360	0.906000|0.906000	0.28517|0.28517	0.207000|0.207000	0.20607|0.20607	0.563000|0.563000	0.77884|0.77884	GCA|GGC		0.398	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		A	108627021	C	A	108627021	3	1	34	1	0	0	0	0	1	0	0	0	6890	739	26	5	155	5	GUCA1C	3	108627021	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	98787561	108627021	89395409	14	2068											
ABHD10	55347	broad.mit.edu	37	chr3	111697949	111697949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggcggcctgggtacCttgtcggagctggggctggg	3	9	20	9	2	0	0	0	0	0	0	1	1	0	1	2	7	3	4	2	7	1	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:111697949C>T	ENST00000273359.3	+	1	68	c.41C>T	c.(40-42)cCt>cTt	p.P14L	ABHD10_ENST00000494817.1_Missense_Mutation_p.P14L|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	14					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GCCTGGGTACCTTGTCGGAGC	0.682																																						uc003dyk.4																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(40-42)cCt>cTt		Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.							40	42	41					3																	111697949		2202	4300	6502	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111697949C>T	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.41C>T	3.37:g.111697949C>T	ENSP00000273359:p.Pro14Leu					ABHD10_uc011bhq.2_5'UTR	p.P14L	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			0	122	+			14					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.41C>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996335	0.54147	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.39997	1.05	4.63	4.63	0.57726	.	0.282117	0.25701	N	0.028865	T	0.41534	0.1163	M	0.65975	2.015	0.80722	D	1	P	0.44241	0.829	B	0.38562	0.276	T	0.48175	-0.9058	10	0.62326	D	0.03	-6.1308	13.3096	0.60371	0.0:1.0:0.0:0.0	.	14	Q9NUJ1	ABHDA_HUMAN	L	14	ENSP00000273359:P14L	ENSP00000273359:P14L	P	+	2	0	ABHD10	113180639	0.009000	0.17119	0.028000	0.17463	0.008000	0.06430	1.156000	0.31712	2.865000	0.98341	0.655000	0.94253	CCT		0.682	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		T	111697949	C	T	111697949	3	4	34	1	0	0	0	0	1	0	0	0	74	681	24	3	43	3	ABHD10	3	111697949	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	3070928	111697949	86324481	15	2069											
AFAP1	60312	broad.mit.edu	37	chr4	7802222	7802222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccggaacgtcagaggatGtttagaatccaaacccggga	13	6	12	10	3	1	2	1	0	0	2	2	5	2	5	3	3	3	1	3	3	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:7802222G>A	ENST00000360265.4	-	9	1447	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	AFAP1_ENST00000382543.3_Missense_Mutation_p.H405Y|AFAP1_ENST00000420658.1_Missense_Mutation_p.H405Y|AFAP1_ENST00000513842.1_5'Flank|AFAP1_ENST00000358461.2_Missense_Mutation_p.H405Y			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	405	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCAGAGGATGTTTAGAATCC	0.547																																						uc011bwk.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1213-1215)Cat>Tat		Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.							117	102	107					4																	7802222		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7802222G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1213C>T	4.37:g.7802222G>A	ENSP00000353402:p.His405Tyr					AFAP1_uc003gkg.1_Missense_Mutation_p.H405Y	p.H405Y	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN			9	1486	-			405			PH 2.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1213C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442479	0.63067	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.0	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.989	T	0.52525	-0.8564	10	0.87932	D	0	-29.9174	18.3126	0.90206	0.0:0.0:1.0:0.0	.	405;405	E9PDT7;Q8N556	.;AFAP1_HUMAN	Y	405	ENSP00000353402:H405Y;ENSP00000410689:H405Y;ENSP00000351245:H405Y;ENSP00000371983:H405Y	ENSP00000351245:H405Y	H	-	1	0	AFAP1	7853122	1.000000	0.71417	0.976000	0.42696	0.015000	0.08874	9.182000	0.94881	2.324000	0.78689	0.467000	0.42956	CAT		0.547	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		A	7802222	G	A	7802222	3	1	34	1	0	0	0	0	1	0	0	0	353	1377	48	3	1267	3	AFAP1	4	7802222	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		7802222	183352054	16	2070											
C4orf21	55345	broad.mit.edu	37	chr4	113510967	113510968	+	Frame_Shift_Del	DEL	TT	TT	-																															taccatgaagtcttcatctcTtgagttcaaagaaaaggtag																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:113510967_113510968delTT	ENST00000505019.1	-	11	3164_3165	c.3039_3040delAA	c.(3037-3042)tcaagafs	p.R1014fs	C4orf21_ENST00000309071.5_Frame_Shift_Del_p.R1014fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1014						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCTTCATCTCTTGAGTTCAAAG	0.391																																						uc003iau.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3037-3042)tcaagafs		Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.																																				SO:0001589	frameshift_variant	55345							g.chr4:113510967_113510968delTT																												ENST00000505019.1:c.3039_3040delAA	4.37:g.113510967_113510968delTT	ENSP00000424737:p.Arg1014fs					C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Frame_Shift_Del_p.S1013fs	p.S1013fs	NM_018392	NP_060862	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3250_3251	-		Ovarian(17;0.156)	1013					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Del	DEL	ENST00000505019.1	37	c.3039_3040delAA																																																																																					0.391	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			-	113510968	TT	-	113510967	7	5	34	1	0	1	0	1	0	0	0	0	2254	1617	56	0	3346	0	C4orf21	4	113510967	Frame_Shift_Del	DEL	TT	TCGA-06-0173-01A-01D-1491-08	105708745	113510967	77643309	17	2071											
LRAT	9227	broad.mit.edu	37	chr4	155670163	155670163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactgtgaagataattattCgtgatcagagaagtgttctt	13	14	10	4	1	2	5	1	2	1	3	3	6	2	5	0	0	0	1	0	0	4	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:155670163C>T	ENST00000336356.3	+	3	821	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	LRAT_ENST00000507827.1_Missense_Mutation_p.R190C	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	190					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GATAATTATTCGTGATCAGAG	0.373																																						uc003iom.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(568-570)Cgt>Tgt		Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	Vitamin A(DB00162)						191	171	178					4																	155670163		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670163C>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.568C>T	4.37:g.155670163C>T	ENSP00000337224:p.Arg190Cys					LRAT_uc003ion.1_Missense_Mutation_p.R190C	p.R190C	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	895	+	all_hematologic(180;0.215)	Renal(120;0.0458)	190					A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.568C>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270917	0.59540	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.47177	0.85;0.85	5.95	5.95	0.96441	.	0.104173	0.64402	D	0.000003	T	0.44746	0.1308	L	0.49126	1.545	0.58432	D	0.999999	B	0.32188	0.359	B	0.24269	0.052	T	0.28235	-1.0050	10	0.35671	T	0.21	-43.8021	20.3812	0.98933	0.0:1.0:0.0:0.0	.	190	O95237	LRAT_HUMAN	C	190	ENSP00000426761:R190C;ENSP00000337224:R190C	ENSP00000337224:R190C	R	+	1	0	LRAT	155889613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.607000	0.67648	2.821000	0.97095	0.650000	0.86243	CGT		0.373	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		T	155670163	C	T	155670163	3	4	34	1	0	0	0	0	1	0	0	0	8930	884	31	2	574	2	LRAT	4	155670163	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	42159196	155670163	35484113	18	2072											
ANP32C	55016	broad.mit.edu	37	chr4	165118645	165118645	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatacttccaggcccccTgagactcttagttcaagctt	9	11	7	14	0	2	1	1	1	1	1	3	2	3	1	4	1	2	2	4	1	4	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:165118645T>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGGCCCCCTGAGACTCTTA	0.403																																						uc011cjk.2																			0				NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35						c.(217-219)tcA>tcT		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.							123	124	124					4																	165118645		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118645T>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85831A>T	4.37:g.165118645T>A						MARCH1_uc003iqs.2_Intron	p.S73S	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	0	219	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	73					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.219A>T	CCDS54814.1																																																																																				0.403	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		A	165118645	T	A	165118645	1	1	34	0	1	0	0	0	0	0	0	0	707	1567	55	5		5	ANP32C	4	165118645	Intron	SNP	T	TCGA-06-0173-01A-01D-1491-08	9448482	165118645	26035631	19	2073											
TRIML1	339976	broad.mit.edu	37	chr4	189068289	189068289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagatgattacagcctctgGgtctcgtcacctttgaaagg	9	11	12	9	1	3	3	1	2	2	1	4	4	3	3	2	3	2	0	2	3	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:189068289G>T	ENST00000332517.3	+	6	1310	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACAGCCTCTGGGTCTCGTCAC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1168-1170)tgG>tgT		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							136	125	129					4																	189068289		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068289G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1170G>T	4.37:g.189068289G>T	ENSP00000327738:p.Trp390Cys					TRIML1_uc003izn.1_Missense_Mutation_p.W114C	p.W390C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1285	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	390			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1170G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	9.311	1.055480	0.19907	.	.	ENSG00000184108	ENST00000332517	T	0.61980	0.06	4.88	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49305	D	0.000143	T	0.68375	0.2994	L	0.48362	1.52	0.51012	D	0.999908	D	0.76494	0.999	D	0.65443	0.935	T	0.64449	-0.6405	10	0.35671	T	0.21	-15.5235	11.0677	0.47985	0.0918:0.0:0.9082:0.0	.	390	Q8N9V2	TRIML_HUMAN	C	390	ENSP00000327738:W390C	ENSP00000327738:W390C	W	+	3	0	TRIML1	189305283	0.939000	0.31865	1.000000	0.80357	0.026000	0.11368	1.851000	0.39338	2.740000	0.93945	0.537000	0.68136	TGG		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189068289	G	T	189068289	3	4	34	1	0	0	0	0	1	0	0	0	16547	1241	43	5	1192	5	TRIML1	4	189068289	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	23949644	189068289	2085987	20	2074											
CDH9	1007	broad.mit.edu	37	chr5	26902711	26902711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggaggctcatctataTcttccacagatattttgacc	12	12	6	11	0	3	2	1	1	2	1	4	3	4	3	2	2	0	1	2	2	3	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:26902711T>A	ENST00000231021.4	-	7	1299	c.1127A>T	c.(1126-1128)gAt>gTt	p.D376V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	376	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCATCTATATCTTCCACAGA	0.408																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0		p.E375E(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1126-1128)gAt>gTt		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							132	127	128					5																	26902711		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902711T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1127A>T	5.37:g.26902711T>A	ENSP00000231021:p.Asp376Val						p.D376V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1296	-			376			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1127A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489635	0.84962	.	.	ENSG00000113100	ENST00000231021	T	0.69175	-0.38	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93263	0.6645	9	.	.	.	.	14.6446	0.68751	0.0:0.0:0.0:1.0	.	376	Q9ULB4	CADH9_HUMAN	V	376	ENSP00000231021:D376V	.	D	-	2	0	CDH9	26938468	1.000000	0.71417	0.942000	0.38095	0.980000	0.70556	7.671000	0.83941	2.139000	0.66308	0.528000	0.53228	GAT		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26902711	T	A	26902711	3	1	34	1	0	0	0	0	1	0	0	0	3117	1435	50	5	1266	5	CDH9	5	26902711	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08		26902711	154012549	21	2075											
LHFPL2	10184	broad.mit.edu	37	chr5	77805969	77805969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgaaggcaatgagctcgGcaaaagccaccacaatactc	15	6	8	12	1	1	2	1	2	0	0	3	2	1	2	2	2	3	3	2	2	6	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:77805969G>A	ENST00000515007.2	-	2	378	c.68C>T	c.(67-69)gCc>gTc	p.A23V	LHFPL2_ENST00000380345.2_Missense_Mutation_p.A23V			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	23						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AATGAGCTCGGCAAAAGCCAC	0.617																																						uc003kfo.3																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(67-69)gCc>gTc		Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.							35	40	38					5																	77805969		2176	4295	6471	SO:0001583	missense	10184					integral to membrane		g.chr5:77805969G>A	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.68C>T	5.37:g.77805969G>A	ENSP00000425906:p.Ala23Val						p.A23V	NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	3	744	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	23					B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	c.68C>T	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714126	0.89112	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.71817	-0.6;-0.6	4.86	4.86	0.63082	.	0.159606	0.53938	D	0.000050	T	0.73087	0.3542	M	0.61703	1.905	0.53005	D	0.999966	P	0.42620	0.785	P	0.52823	0.71	T	0.69213	-0.5204	10	0.05620	T	0.96	-14.5327	13.1359	0.59409	0.0:0.1606:0.8394:0.0	.	23	Q6ZUX7	LHPL2_HUMAN	V	23	ENSP00000369702:A23V;ENSP00000425906:A23V	ENSP00000369702:A23V	A	-	2	0	LHFPL2	77841725	0.998000	0.40836	0.864000	0.33941	0.985000	0.73830	3.295000	0.51794	2.413000	0.81919	0.561000	0.74099	GCC		0.617	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		A	77805969	G	A	77805969	3	1	34	1	0	0	0	0	1	0	0	0	8765	1203	42	3	626	3	LHFPL2	5	77805969	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	50903258	77805969	103109291	22	2076											
CCDC112	153733	broad.mit.edu	37	chr5	114607281	114607281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctttaacttgaaaatttCctcccttttttgctgctttt	6	22	3	10	0	0	1	0	1	0	0	3	1	3	1	3	0	3	2	3	0	3	10			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:114607281C>T	ENST00000512261.1	-	8	1128	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CCDC112_ENST00000379611.5_Missense_Mutation_p.E321K|CCDC112_ENST00000395557.4_Missense_Mutation_p.E238K|CCDC112_ENST00000506442.1_Missense_Mutation_p.E238K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	238										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTGAAAATTTCCTCCCTTTTT	0.289																																						uc003kqz.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(961-963)Gaa>Aaa		Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.							125	117	120					5																	114607281		2202	4298	6500	SO:0001583	missense	153733							g.chr5:114607281C>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.712G>A	5.37:g.114607281C>T	ENSP00000423712:p.Glu238Lys					CCDC112_uc003kqy.2_Missense_Mutation_p.E238K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	p.E321K	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	1179	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	238					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.961G>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914020	0.72983	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21932	1.98;2.03;2.03;2.03	5.82	5.82	0.92795	.	0.156720	0.56097	D	0.000037	T	0.31136	0.0787	L	0.60455	1.87	0.29475	N	0.856773	P;P;P	0.49559	0.925;0.925;0.925	P;P;P	0.52159	0.691;0.691;0.621	T	0.12293	-1.0553	10	0.16896	T	0.51	-23.8683	13.95	0.64111	0.0:0.9267:0.0:0.0733	.	238;321;238	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	321;238;238;238	ENSP00000368931:E321K;ENSP00000423712:E238K;ENSP00000424876:E238K;ENSP00000378925:E238K	ENSP00000368931:E321K	E	-	1	0	CCDC112	114635180	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.137000	0.42130	2.748000	0.94277	0.591000	0.81541	GAA		0.289	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		T	114607281	C	T	114607281	3	4	34	1	0	0	0	0	1	0	0	0	2749	864	30	3	644	3	CCDC112	5	114607281	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	36801312	114607281	66307979	23	2077											
ODZ2	57451	broad.mit.edu	37	chr5	167674863	167674863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctatgatggcgtaggaCggcgggcttcctacaagacc	9	7	13	12	4	0	2	0	1	0	1	1	3	1	3	3	4	1	3	3	4	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:167674863C>T	ENST00000518659.1	+	27	6958	c.6919C>T	c.(6919-6921)Cgg>Tgg	p.R2307W	TENM2_ENST00000519204.1_Missense_Mutation_p.R2186W|TENM2_ENST00000545108.1_Missense_Mutation_p.R2306W|TENM2_ENST00000403607.2_Missense_Mutation_p.R2131W|TENM2_ENST00000520394.1_Missense_Mutation_p.R2068W	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2307					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGCGTAGGACGGCGGGCTTC	0.552																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(6892-6894)Cgg>Tgg		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							113	117	115					5																	167674863		2076	4207	6283	SO:0001583	missense	57451							g.chr5:167674863C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6919C>T	5.37:g.167674863C>T	ENSP00000429430:p.Arg2307Trp					ODZ2_uc003lzr.4_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.4_Missense_Mutation_p.R1671W|ODZ2_uc010jje.3_Missense_Mutation_p.R1562W	p.R2298W	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	26	6892	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6892C>T		.	.	.	.	.	.	.	.	.	.	C	17.64	3.440698	0.63067	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93763	-2.8;-2.79;-2.94;-3.26;-3.28	5.44	3.52	0.40303	.	0.050754	0.85682	D	0.000000	D	0.97393	0.9147	H	0.94503	3.545	0.47276	D	0.999376	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.98223	1.0479	10	0.87932	D	0	.	13.6555	0.62336	0.391:0.609:0.0:0.0	.	2306;2307;2068	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	2307;2306;2186;2068;2131	ENSP00000429430:R2307W;ENSP00000438635:R2306W;ENSP00000428964:R2186W;ENSP00000427874:R2068W;ENSP00000384905:R2131W	ENSP00000384905:R2131W	R	+	1	2	ODZ2	167607441	0.924000	0.31332	0.967000	0.41034	0.980000	0.70556	1.979000	0.40608	1.274000	0.44362	0.561000	0.74099	CGG		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167674863	C	T	167674863	3	4	34	1	0	0	0	0	1	0	0	0	10835	527	19	1	6998	1	ODZ2	5	167674863	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	53067582	167674863	13240397	24	2078											
OR10C1	442194	broad.mit.edu	37	chr6	29408233	29408233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctagctgggtcggcGtgggcctgtggggtgctggt	3	10	19	9	2	0	0	0	0	0	0	1	0	0	0	1	6	4	3	1	6	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:29408233G>A	ENST00000444197.2	+	1	1151	c.441G>A	c.(439-441)gcG>gcA	p.A147A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCGGCGTGGGCCTGTG	0.622																																						uc011dlp.2																			0		p.S146L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(439-441)gcG>gcA		Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.							82	93	89					6																	29408233		1509	2709	4218	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408233G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.441G>A	6.37:g.29408233G>A						OR11A1_uc010jrh.1_Intron	p.A147A	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			0	518	+			147					Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.441G>A	CCDS34364.1																																																																																				0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			A	29408233	G	A	29408233	2	1	34	1	0	0	0	0	0	0	0	1	10898	1132	40	1		1	OR10C1	6	29408233	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08		29408233	141706834	25	2079											
GRM4	2914	broad.mit.edu	37	chr6	34101001	34101001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggcagcaggtccgggtcGttgttgatgcgatccagggc	6	10	16	9	3	0	1	0	1	0	0	3	2	2	1	2	4	2	4	2	4	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:34101001G>A	ENST00000538487.2	-	2	716	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GRM4_ENST00000374181.4_Silent_p.N91N|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	91					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTCCGGGTCGTTGTTGATGC	0.622																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(271-273)aaC>aaT		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						74	64	67					6																	34101001		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101001G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.273C>T	6.37:g.34101001G>A						GRM4_uc011dsn.2_Silent_p.N91N|GRM4_uc010jvh.3_Silent_p.N91N|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.N10N	p.N91N	NM_000841	NP_000832	Q14833	GRM4_HUMAN			0	636	-			91					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.273C>T	CCDS4787.1																																																																																				0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	34101001	G	A	34101001	2	1	34	1	0	0	0	0	0	0	0	1	6799	1136	40	1		1	GRM4	6	34101001	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	4692768	34101001	137014066	26	2080											
DNAH8	1769	broad.mit.edu	37	chr6	38704936	38704936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaccagctgttcttgcaAcaaacaactggggtgcttta	10	13	8	10	0	2	0	0	0	2	0	2	0	2	0	1	2	7	4	1	2	5	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:38704936A>G	ENST00000359357.3	+	4	459	c.205A>G	c.(205-207)Aca>Gca	p.T69A	DNAH8_ENST00000449981.2_Missense_Mutation_p.T286A|DNAH8_ENST00000441566.1_Missense_Mutation_p.T69A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	69					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTCTTGCAACAAACAACTG	0.383																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(856-858)Aca>Gca		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							98	101	100					6																	38704936		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38704936A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.205A>G	6.37:g.38704936A>G	ENSP00000352312:p.Thr69Ala					DNAH8_uc003ooe.2_Missense_Mutation_p.T69A	p.T286A	NM_001206927	NP_001193856					5	965	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.856A>G		.	.	.	.	.	.	.	.	.	.	A	7.467	0.645802	0.14451	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24350	1.89;1.9;1.86	5.2	5.2	0.72013	.	0.067167	0.64402	D	0.000016	T	0.11965	0.0291	M	0.62723	1.935	0.38689	D	0.952714	B	0.06786	0.001	B	0.06405	0.002	T	0.07829	-1.0752	10	0.09084	T	0.74	.	13.9121	0.63873	1.0:0.0:0.0:0.0	.	69	Q96JB1	DYH8_HUMAN	A	274;274;69;69	ENSP00000333363:T274A;ENSP00000352312:T69A;ENSP00000402294:T69A	ENSP00000333363:T274A	T	+	1	0	DNAH8	38812914	1.000000	0.71417	0.943000	0.38184	0.976000	0.68499	4.059000	0.57470	2.073000	0.62155	0.482000	0.46254	ACA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38704936	A	G	38704936	3	3	34	1	0	0	0	0	1	0	0	0	4607	43	2	4	211	4	DNAH8	6	38704936	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	4603935	38704936	132410131	27	2081											
AIM1	202	broad.mit.edu	37	chr6	106967934	106967934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaagtgagtgtccaTccagagtcctcgtccaggtc	7	10	13	11	1	0	2	0	1	0	1	6	3	4	3	4	2	0	0	4	2	1	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:106967934T>C	ENST00000369066.3	+	2	2114	c.1627T>C	c.(1627-1629)Tcc>Ccc	p.S543P		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAGTGTCCATCCAGAGTCCT	0.527																																						uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(1627-1629)Tcc>Ccc		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							64	66	65					6																	106967934		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967934T>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1627T>C	6.37:g.106967934T>C	ENSP00000358062:p.Ser543Pro						p.S543P	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	2539	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	543					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1627T>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.438570	0.62955	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.75938	-0.98	6.17	3.76	0.43208	.	0.701451	0.12492	N	0.464188	T	0.53061	0.1773	L	0.59436	1.845	0.80722	D	1	B	0.20887	0.049	B	0.19666	0.026	T	0.53599	-0.8416	10	0.51188	T	0.08	.	6.3935	0.21599	0.0:0.0796:0.1584:0.762	.	543	Q9Y4K1	AIM1_HUMAN	P	951;543	ENSP00000358062:S543P	ENSP00000285105:S951P	S	+	1	0	AIM1	107074627	0.993000	0.37304	0.846000	0.33378	0.496000	0.33645	2.227000	0.42972	0.546000	0.28920	0.533000	0.62120	TCC		0.527	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			C	106967934	T	C	106967934	3	2	34	1	0	0	0	0	1	0	0	0	430	1435	50	4	1633	4	AIM1	6	106967934	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	68262998	106967934	64147133	28	2082											
C6orf170	221322	broad.mit.edu	37	chr6	121642861	121642861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgattccgatcagatgTgcatttttccatttcttctt	7	18	5	11	1	3	2	1	1	2	1	5	3	5	2	3	0	1	1	3	0	0	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:121642861T>C	ENST00000398212.2	-	2	284	c.235A>G	c.(235-237)Aca>Gca	p.T79A	TBC1D32_ENST00000275159.6_Missense_Mutation_p.T79A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	79					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CGATCAGATGTGCATTTTTCC	0.368																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(235-237)Aca>Gca		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.							227	205	212					6																	121642861		1870	4125	5995	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121642861T>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.235A>G	6.37:g.121642861T>C	ENSP00000381270:p.Thr79Ala					C6orf170_uc003pyq.1_Non-coding_Transcript	p.T79A	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	1	303	-			79					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.235A>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384366	0.25031	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.22539	1.95;1.95;1.95	5.44	4.29	0.51040	.	0.425407	0.24864	N	0.034989	T	0.07234	0.0183	L	0.28740	0.885	0.34587	D	0.715055	B	0.10296	0.003	B	0.11329	0.006	T	0.09079	-1.0691	10	0.44086	T	0.13	-19.9267	10.7182	0.46026	0.0:0.0745:0.0:0.9255	.	79	Q96NH3	BROMI_HUMAN	A	79	ENSP00000275159:T79A;ENSP00000381270:T79A;ENSP00000397993:T79A	ENSP00000275159:T79A	T	-	1	0	C6orf170	121684560	0.996000	0.38824	0.966000	0.40874	0.304000	0.27724	1.199000	0.32235	2.081000	0.62600	0.496000	0.49642	ACA		0.368	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		C	121642861	T	C	121642861	3	2	34	1	0	0	0	0	1	0	0	0	2344	1696	59	4	3662	4	C6orf170	6	121642861	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	14674927	121642861	49472206	29	2083											
FNDC1	84624	broad.mit.edu	37	chr6	159653416	159653416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcctgcccaccacgcGtccacccagggcacctctca	6	6	7	22	2	2	0	1	0	2	0	5	0	3	0	7	1	1	1	7	1	0	0	rs200852800	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:159653416G>A	ENST00000297267.9	+	11	2072	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	FNDC1_ENST00000340366.6_Silent_p.A561A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCACCACGCGTCCACCCAGG	0.667													G|||	2	0.000399361	0.0015	0	5008	,	,		12051	0		0	False		,,,				2504	0					uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1870-1872)gcG>gcA		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.		G		2,4100		0,2,2049	31	36	34		1872	-6.8	0	6		34	0,8368		0,0,4184	no	coding-synonymous	FNDC1	NM_032532.2		0,2,6233	AA,AG,GG		0.0,0.0488,0.016		624/1895	159653416	2,12468	2051	4184	6235	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653416G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1872G>A	6.37:g.159653416G>A						FNDC1_uc010kjw.1_Silent_p.A509A	p.A624A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	2072	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	624					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1872G>A	CCDS47512.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.719	0.133692	0.09032	4.88E-4	0.0	ENSG00000164694	ENST00000329629	.	.	.	3.37	-6.75	0.01738	.	.	.	.	.	T	0.09024	0.0223	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13469	-1.0508	4	.	.	.	.	6.2787	0.20995	0.5075:0.2309:0.2616:0.0	.	.	.	.	I	520	.	.	V	+	1	0	FNDC1	159573406	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.407000	0.02488	-2.518000	0.00499	-0.345000	0.07892	GTC		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159653416	G	A	159653416	2	1	34	1	0	0	0	0	0	0	0	1	5968	1132	40	1		1	FNDC1	6	159653416	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	38010555	159653416	11461651	30	2084											
SLC22A2	6582	broad.mit.edu	37	chr6	160679423	160679423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtacacccagccgtcccGgcaggggcccagtggcaggc	6	4	14	17	3	0	0	0	0	0	0	2	0	1	0	4	5	2	3	4	5	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:160679423G>A	ENST00000366953.3	-	1	625	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.R102W	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	123					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAGCCGTCCCGGCAGGGGCCC	0.627																																						uc003qtf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(367-369)Cgg>Tgg		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.							54	62	59					6																	160679423		2202	4299	6501	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679423G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.367C>T	6.37:g.160679423G>A	ENSP00000355920:p.Arg123Trp					SLC22A2_uc003qth.2_Missense_Mutation_p.R123W	p.R123W	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	0	541	-		Breast(66;0.000776)|Ovarian(120;0.0303)	123					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.367C>T	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091647	0.55968	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73575	-0.76;-0.69	5.36	-4.59	0.03400	Major facilitator superfamily domain (1);	1.635570	0.02962	N	0.143269	T	0.74496	0.3724	M	0.69358	2.11	0.09310	N	1	D;D;D	0.71674	0.998;0.989;0.998	P;P;P	0.58520	0.84;0.773;0.827	T	0.70011	-0.4989	10	0.66056	D	0.02	.	16.9132	0.86145	0.0:0.6466:0.1691:0.1843	.	123;123;123	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	W	123;102	ENSP00000355920:R123W;ENSP00000355919:R102W	ENSP00000355919:R102W	R	-	1	2	SLC22A2	160599413	0.000000	0.05858	0.002000	0.10522	0.505000	0.33919	-0.270000	0.08584	-1.294000	0.02360	-0.165000	0.13383	CGG		0.627	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		A	160679423	G	A	160679423	3	1	34	1	0	0	0	0	1	0	0	0	14450	1115	39	2	1344	2	SLC22A2	6	160679423	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	1026007	160679423	10435644	31	2085											
HECW1	23072	broad.mit.edu	37	chr7	43519279	43519279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccctcttcagaacggtcGtcttcccaatcatctaactc	10	12	4	15	2	5	1	2	0	3	1	9	1	7	1	2	1	2	0	2	1	4	3	rs374489291		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:43519279G>A	ENST00000395891.2	+	17	3775	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	HECW1_ENST00000453890.1_Missense_Mutation_p.R1023H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1057					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAACGGTCGTCTTCCCAAT	0.542																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3169-3171)cGt>cAt		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.		G	HIS/ARG	0,3900		0,0,1950	156	150	151		3170	5.7	1	7		151	1,8295		0,1,4147	no	missense	HECW1	NM_015052.3	29	0,1,6097	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1057/1607	43519279	1,12195	1950	4148	6098	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519279G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3170G>A	7.37:g.43519279G>A	ENSP00000379228:p.Arg1057His					HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	p.R1057H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			16	3775	+			1057					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3170G>A	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.328796|5.328796	0.95733|0.95733	0.0|0.0	1.21E-4|1.21E-4	ENSG00000002746|ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522|ENST00000429529	D;D|.	0.84730|.	-1.89;-1.89|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.145088|.	0.64402|.	N|.	0.000007|.	T|T	0.76535|0.76535	0.4001|0.4001	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.607|.	P;B|.	0.60609|.	0.877;0.097|.	T|T	0.74553|0.74553	-0.3627|-0.3627	10|5	0.49607|.	T|.	0.09|.	.|.	19.7543|19.7543	0.96284|0.96284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1023;1057|.	B4DH42;Q76N89|.	.;HECW1_HUMAN|.	H|I	1057;1023;1057|10	ENSP00000379228:R1057H;ENSP00000407774:R1023H|.	ENSP00000265522:R1057H|.	R|V	+|+	2|1	0|0	HECW1|HECW1	43485804|43485804	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	7.870000|7.870000	0.87175|0.87175	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.542	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43519279	G	A	43519279	3	1	34	1	0	0	0	0	1	0	0	0	7042	1145	40	1	3228	1	HECW1	7	43519279	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		43519279	115619384	32	2086											
BAZ1B	9031	broad.mit.edu	37	chr7	72892641	72892641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggccttttttaggaaTgtgaaagttagtgtgcagct	9	14	14	4	0	0	1	0	1	0	0	0	2	0	2	1	3	2	3	1	3	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:72892641T>A	ENST00000339594.4	-	7	1488	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.I384F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	384	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTAGGAATGTGAAAGTTA	0.433																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1150-1152)Att>Ttt		Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.							109	99	102					7																	72892641		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892641T>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1150A>T	7.37:g.72892641T>A	ENSP00000342434:p.Ile384Phe						p.I384F	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			6	1502	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	384			Lys-rich.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1150A>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626808	0.66901	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59502	0.26;0.26	5.93	4.79	0.61399	.	0.056877	0.64402	D	0.000001	T	0.37544	0.1007	N	0.19112	0.55	0.46725	D	0.999174	P	0.40970	0.734	B	0.34536	0.185	T	0.38200	-0.9672	10	0.54805	T	0.06	-19.6218	9.4011	0.38433	0.0:0.0793:0.0:0.9207	.	384	Q9UIG0	BAZ1B_HUMAN	F	384	ENSP00000342434:I384F;ENSP00000385442:I384F	ENSP00000342434:I384F	I	-	1	0	BAZ1B	72530577	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.184000	0.58323	2.273000	0.75805	0.482000	0.46254	ATT		0.433	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		A	72892641	T	A	72892641	3	1	34	1	0	0	0	0	1	0	0	0	1330	1464	51	5	3353	5	BAZ1B	7	72892641	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	29373362	72892641	86246022	33	2087											
PIK3CG	5294	broad.mit.edu	37	chr7	106524646	106524646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcctgtgcaggctactGtgtggcaacctttgttcttg	5	17	10	9	0	1	0	0	0	1	0	2	0	2	0	2	2	3	4	2	2	3	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:106524646G>C	ENST00000359195.3	+	9	3117	c.2807G>C	c.(2806-2808)tGt>tCt	p.C936S	PIK3CG_ENST00000440650.2_Missense_Mutation_p.C936S|PIK3CG_ENST00000496166.1_Missense_Mutation_p.C936S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	936	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C936S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGGCTACTGTGTGGCAACC	0.363																																						uc003vdv.4																			1	Substitution - Missense(1)	p.C936S(2)	central_nervous_system(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2806-2808)tGt>tCt		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							188	183	185					7																	106524646		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106524646G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2807G>C	7.37:g.106524646G>C	ENSP00000352121:p.Cys936Ser					PIK3CG_uc003vdu.3_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.3_Missense_Mutation_p.C936S	p.C936S	NM_002649	NP_002640	P48736	PK3CG_HUMAN			8	2892	+			936			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2807G>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776249	0.90195	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.74526	-0.85;-0.85;-0.85	5.05	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.088781	0.85682	D	0.000000	T	0.76227	0.3958	L	0.28014	0.82	0.80722	D	1	P	0.50272	0.933	P	0.57057	0.812	T	0.76271	-0.3020	10	0.41790	T	0.15	-14.91	18.583	0.91178	0.0:0.0:1.0:0.0	.	936	P48736	PK3CG_HUMAN	S	936	ENSP00000392258:C936S;ENSP00000419260:C936S;ENSP00000352121:C936S	ENSP00000352121:C936S	C	+	2	0	PIK3CG	106311882	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.594000	0.98254	2.598000	0.87819	0.655000	0.94253	TGT		0.363	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			C	106524646	G	C	106524646	3	2	34	1	0	0	0	0	1	0	0	0	11916	1377	48	5	2837	5	PIK3CG	7	106524646	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	33632005	106524646	52614017	34	2088											
IMPDH1	3614	broad.mit.edu	37	chr7	128038490	128038490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactatgacgtcgacgcccGcctgggtgagcaggtccaga	9	6	14	12	4	0	4	0	2	0	2	2	5	1	4	3	2	1	1	3	2	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:128038490G>A	ENST00000480861.1	-	7	859	c.782C>T	c.(781-783)gCg>gTg	p.A261V	IMPDH1_ENST00000378717.4_Missense_Mutation_p.A282V|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A241V|IMPDH1_ENST00000354269.5_Missense_Mutation_p.A341V|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A318V|IMPDH1_ENST00000496200.1_Missense_Mutation_p.A241V|IMPDH1_ENST00000338791.6_Missense_Mutation_p.A351V|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A265V|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A315V	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GTCGACGCCCGCCTGGGTGAG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kol.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(796-798)gCg>gTg		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						38	39	39					7																	128038490		2203	4298	6501	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038490G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.782C>T	7.37:g.128038490G>A	ENSP00000420185:p.Ala261Val		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_uc011kom.1_Missense_Mutation_p.A261V|IMPDH1_uc003vmt.2_Missense_Mutation_p.A241V|IMPDH1_uc003vmu.2_Missense_Mutation_p.A351V|IMPDH1_uc003vmx.2_Missense_Mutation_p.A274V|IMPDH1_uc003vmy.2_Missense_Mutation_p.A282V|IMPDH1_uc003vmw.2_Missense_Mutation_p.A341V|IMPDH1_uc011kon.1_Missense_Mutation_p.A318V|IMPDH1_uc003vmv.2_Missense_Mutation_p.A315V	p.A266V	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			6	903	-			266						Missense_Mutation	SNP	ENST00000480861.1	37	c.797C>T	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111832	0.77210	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;T	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.45	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.103421	0.64402	D	0.000004	D	0.84188	0.5417	M	0.81497	2.545	0.80722	D	1	P;P;P;P;D;P;P;B	0.55800	0.805;0.5;0.676;0.718;0.973;0.835;0.919;0.444	B;B;B;B;P;B;B;B	0.46237	0.299;0.196;0.196;0.287;0.508;0.125;0.299;0.124	D	0.86975	0.2100	10	0.62326	D	0.03	-31.5243	16.4619	0.84059	0.0:0.0:1.0:0.0	.	318;261;266;282;341;315;351;241	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	V	318;351;241;341;282;315;241;265;261;282	ENSP00000399400:A318V;ENSP00000345096:A351V;ENSP00000420803:A241V;ENSP00000346219:A341V;ENSP00000367989:A282V;ENSP00000265385:A315V;ENSP00000342438:A241V;ENSP00000417296:A265V;ENSP00000420185:A261V;ENSP00000419609:A282V	ENSP00000345096:A351V	A	-	2	0	IMPDH1	127825726	1.000000	0.71417	0.951000	0.38953	0.385000	0.30292	9.837000	0.99465	2.489000	0.83994	0.655000	0.94253	GCG		0.602	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		A	128038490	G	A	128038490	3	1	34	1	0	0	0	0	1	0	0	0	7726	1087	38	1	779	1	IMPDH1	7	128038490	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	21513844	128038490	31100173	35	2089											
CLCN1	1180	broad.mit.edu	37	chr7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcctctcccagttgatgCcccgcgaagccatcagtact	7	11	7	16	2	3	1	1	1	2	0	5	2	4	1	5	0	3	2	5	0	2	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143029823C>T	ENST00000343257.2	+	12	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	420					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTTGATGCCCCGCGAAGC	0.522																																						uc003wcr.1																			0		p.P420P(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1258-1260)Ccc>Tcc		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							166	159	161					7																	143029823		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029823C>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1258C>T	7.37:g.143029823C>T	ENSP00000339867:p.Pro420Ser					CLCN1_uc011ktc.1_Intron	p.P420S	NM_000083	NP_000074	P35523	CLCN1_HUMAN			11	1345	+	Melanoma(164;0.205)		420					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1258C>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500391	0.64298	.	.	ENSG00000188037	ENST00000343257	D	0.92595	-3.07	5.36	5.36	0.76844	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.31476	0.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.75484	0.986	D	0.90724	0.4637	10	0.20519	T	0.43	.	19.4395	0.94813	0.0:1.0:0.0:0.0	.	420	P35523	CLCN1_HUMAN	S	420	ENSP00000339867:P420S	ENSP00000339867:P420S	P	+	1	0	CLCN1	142739945	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.769000	0.85360	2.683000	0.91414	0.643000	0.83706	CCC		0.522	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		T	143029823	C	T	143029823	3	4	34	1	0	0	0	0	1	0	0	0	3462	739	26	3	1304	3	CLCN1	7	143029823	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	14991333	143029823	16108840	36	2090											
OR2F2	135948	broad.mit.edu	37	chr7	143632969	143632969	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctttctgcctggttcTgttgtcctacatccggatca	6	14	8	13	1	3	0	1	0	2	0	5	2	5	1	4	2	2	2	4	2	1	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143632969T>A	ENST00000408955.2	+	1	711	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCTGGTTCTGTTGTCCTAC	0.517																																						uc011ktv.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(643-645)cTg>cAg		Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.							211	186	195					7																	143632969		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632969T>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.644T>A	7.37:g.143632969T>A	ENSP00000386222:p.Leu215Gln						p.L215Q	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			0	644	+	Melanoma(164;0.0903)		215					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.644T>A	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.564158	0.45694	.	.	ENSG00000221910	ENST00000408955	T	0.00277	8.34	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000309	T	0.00906	0.0030	H	0.94925	3.6	0.21527	N	0.999657	D	0.89917	1.0	D	0.97110	1.0	T	0.14254	-1.0479	10	0.87932	D	0	-32.1295	10.2613	0.43427	0.0:0.0:0.0:1.0	.	215	O95006	OR2F2_HUMAN	Q	215	ENSP00000386222:L215Q	ENSP00000386222:L215Q	L	+	2	0	OR2F2	143263902	0.017000	0.18338	0.966000	0.40874	0.668000	0.39293	2.061000	0.41403	1.578000	0.49821	0.402000	0.26972	CTG		0.517	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			A	143632969	T	A	143632969	3	1	34	1	0	0	0	0	1	0	0	0	10997	1580	55	5	646	5	OR2F2	7	143632969	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	603146	143632969	15505694	37	2091											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914464	147914464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagagactccagcagcaGagtagacaacgctcccgacc	12	4	10	15	2	0	3	0	0	0	3	2	5	2	3	4	0	4	4	4	0	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:147914464G>T	ENST00000361727.3	+	19	3611	c.3095G>T	c.(3094-3096)aGa>aTa	p.R1032I	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R91I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1032					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3094-3096)aGa>aTa		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							123	121	122					7																	147914464		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914464G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3095G>T	7.37:g.147914464G>T	ENSP00000354778:p.Arg1032Ile	HNSCC(39;0.1)					p.R1032I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3611	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1032					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3095G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671116	0.14776	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.88664	-2.41;2.72	5.01	3.15	0.36227	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.253184	0.37577	N	0.002037	D	0.82305	0.5008	L	0.59436	1.845	0.09310	N	1	B	0.31519	0.327	B	0.26202	0.067	T	0.67268	-0.5713	10	0.22109	T	0.4	.	5.8806	0.18854	0.1799:0.1541:0.666:0.0	.	1032	Q9UHC6	CNTP2_HUMAN	I	1032;91	ENSP00000354778:R1032I;ENSP00000440732:R91I	ENSP00000354778:R1032I	R	+	2	0	CNTNAP2	147545397	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.542000	0.36137	0.480000	0.27534	-0.221000	0.12465	AGA		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147914464	G	T	147914464	3	4	34	1	0	0	0	0	1	0	0	0	3647	942	33	5	3169	5	CNTNAP2	7	147914464	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	4281495	147914464	11224199	38	2092											
UBE3C	9690	broad.mit.edu	37	chr7	156976584	156976584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaggggccctctctgAggaagggctgctggtgtatt	7	11	15	8	0	1	1	0	1	1	0	2	2	1	2	1	5	2	4	1	5	3	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:156976584A>T	ENST00000348165.5	+	9	1364	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	UBE3C_ENST00000389103.4_Missense_Mutation_p.E292V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	335					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCCTCTCTGAGGAAGGGCTG	0.473																																						uc010lqs.3																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1003-1005)gAg>gTg		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							100	114	109					7																	156976584		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156976584A>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1004A>T	7.37:g.156976584A>T	ENSP00000309198:p.Glu335Val					UBE3C_uc003wnf.2_Missense_Mutation_p.E292V|UBE3C_uc003wng.2_Missense_Mutation_p.E335V	p.E335V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	8	1316	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	335					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1004A>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482069	0.84747	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.48201	0.82	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.999	P;D;D	0.73708	0.578;0.953;0.981	T	0.68401	-0.5418	10	0.52906	T	0.07	-30.1727	14.9637	0.71174	1.0:0.0:0.0:0.0	.	335;335;292	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	V	335;292	ENSP00000309198:E335V	ENSP00000309198:E335V	E	+	2	0	UBE3C	156669345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.594000	0.82698	1.936000	0.56123	0.482000	0.46254	GAG		0.473	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		T	156976584	A	T	156976584	3	4	34	1	0	0	0	0	1	0	0	0	16878	304	11	5	1038	5	UBE3C	7	156976584	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	9062120	156976584	2162079	39	2093											
SCARA5	286133	broad.mit.edu	37	chr8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgcggaagccgagcatgCggcacaccacgtctccgtcc	8	4	11	18	6	1	0	0	0	1	0	3	2	2	1	5	2	3	2	5	2	1	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	432	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642																																						uc003xgj.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1294-1296)cGc>cAc		Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.							156	121	133					8																	27737142		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737142C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1295G>A	8.37:g.27737142C>T	ENSP00000346990:p.Arg432His					SCARA5_uc010luz.3_Missense_Mutation_p.R207H	p.R432H	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	7	1906	-		Ovarian(32;0.0218)	432			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1295G>A	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480662	0.63849	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.42900	0.96;0.96	4.87	3.99	0.46301	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.063343	0.64402	N	0.000010	T	0.48804	0.1520	M	0.88241	2.94	0.80722	D	1	B;B	0.25206	0.012;0.12	B;B	0.19946	0.008;0.027	T	0.54417	-0.8297	10	0.66056	D	0.02	.	11.0431	0.47842	0.0:0.907:0.0:0.093	.	207;432	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	432;207	ENSP00000346990:R432H;ENSP00000369746:R207H	ENSP00000346990:R432H	R	-	2	0	SCARA5	27793061	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.882000	0.63121	1.170000	0.42753	0.591000	0.81541	CGC		0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		T	27737142	C	T	27737142	3	4	34	1	0	0	0	0	1	0	0	0	13880	768	27	1	200	1	SCARA5	8	27737142	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		27737142	118626880	40	2094											
NRG1	3084	broad.mit.edu	37	chr8	31497984	31497984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggaggcgccctatctgGtgaaggtgcaccaggtgtgg	7	7	19	8	1	1	1	0	1	1	0	1	3	1	3	2	7	1	1	2	7	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:31497984G>C	ENST00000520407.1	+	1	714	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCCTATCTGGTGAAGGTGCA	0.741																																						uc003xip.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(484-486)Gtg>Ctg		Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.							9	12	11					8																	31497984		1856	4052	5908	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:31497984G>C	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520407.1:c.484G>C	8.37:g.31497984G>C	ENSP00000434640:p.Val162Leu					NRG1_uc022ats.1_Intron	p.V162L	NM_013962	NP_039256	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	0	717	+		Breast(100;0.203)	0					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000520407.1	37	c.484G>C	CCDS47836.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440988	0.25900	.	.	ENSG00000157168	ENST00000520407;ENST00000523534	T;T	0.80393	-1.37;-1.17	3.97	3.97	0.46021	.	.	.	.	.	T	0.77068	0.4076	.	.	.	0.80722	D	1	P	0.41393	0.748	B	0.39562	0.303	T	0.81278	-0.1005	8	0.87932	D	0	.	13.8696	0.63610	0.0:0.0:1.0:0.0	.	162	Q02297-9	.	L	162;15	ENSP00000434640:V162L;ENSP00000429067:V15L	ENSP00000434640:V162L	V	+	1	0	NRG1	31617526	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.420000	0.66441	1.921000	0.55644	0.563000	0.77884	GTG		0.741	NRG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376412.2			C	31497984	G	C	31497984	3	2	34	1	0	0	0	0	1	0	0	0	10647	1261	44	5	486	5	NRG1	8	31497984	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	3760842	31497984	114866038	41	2095											
SULF1	23213	broad.mit.edu	37	chr8	70515453	70515453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatcgttctcaacattgActtggcccccacgatcctgg	9	10	8	14	2	1	2	1	1	1	1	4	3	2	2	3	2	1	1	3	2	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:70515453A>T	ENST00000260128.4	+	11	1805	c.1088A>T	c.(1087-1089)gAc>gTc	p.D363V	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D363V|SULF1_ENST00000458141.2_Missense_Mutation_p.D363V|SULF1_ENST00000402687.4_Missense_Mutation_p.D363V	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	363					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTCAACATTGACTTGGCCCCC	0.537																																						uc003xyg.2																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1087-1089)gAc>gTc		Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.							232	197	209					8																	70515453		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515453A>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1088A>T	8.37:g.70515453A>T	ENSP00000260128:p.Asp363Val					SULF1_uc010lza.1_Missense_Mutation_p.D363V|SULF1_uc003xyd.2_Missense_Mutation_p.D363V|SULF1_uc003xye.2_Missense_Mutation_p.D363V|SULF1_uc003xyf.2_Missense_Mutation_p.D363V|SULF1_uc003xyh.1_Non-coding_Transcript	p.D363V	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1649	+	Breast(64;0.0654)		363					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1088A>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.805020	0.90623	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99737	-6.59;-6.59;-6.59;-6.59	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96486	0.9360	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	363	Q8IWU6	SULF1_HUMAN	V	363	ENSP00000403040:D363V;ENSP00000260128:D363V;ENSP00000385704:D363V;ENSP00000390315:D363V	ENSP00000260128:D363V	D	+	2	0	SULF1	70678007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAC		0.537	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		T	70515453	A	T	70515453	3	4	34	1	0	0	0	0	1	0	0	0	15369	275	10	5	1114	5	SULF1	8	70515453	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	39017469	70515453	75848569	42	2096											
RIMS2	9699	broad.mit.edu	37	chr8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatcttgttgttttagtcGgaatgtggaacaggggcttc	8	15	13	5	1	1	1	0	0	1	1	3	3	1	3	0	4	1	3	0	4	4	6	rs368813886		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:105001535G>A	ENST00000436393.2	+	15	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R769Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			G|||	1	0.000199681	8e-04	0	5008	,	,		17562	0		0	False		,,,				2504	0					uc003yls.3																			0		p.R755S(1)|p.G754R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2263-2265)cGg>cAg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.		G	GLN/ARG,GLN/ARG	2,3706		0,2,1852	130	126	127		2930,2306	5.5	1	8		127	0,8196		0,0,4098	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	43,43	0,2,5950	AA,AG,GG		0.0,0.0539,0.0168	probably-damaging,probably-damaging	977/1350,769/1164	105001535	2,11902	1854	4098	5952	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001535G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2264G>A	8.37:g.105001535G>A	ENSP00000390665:p.Arg755Gln	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R816Q	p.R755Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2505	+			1039					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2264G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708325	0.68615	5.39E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18502	2.21;2.77;2.41;2.38;2.3;2.65	5.54	5.54	0.83059	.	.	.	.	.	T	0.29389	0.0732	L	0.40543	1.245	0.80722	D	1	B;D;P;D;D	0.69078	0.107;0.997;0.584;0.991;0.996	B;P;B;P;P	0.59221	0.029;0.592;0.05;0.449;0.854	T	0.00872	-1.1532	9	0.20519	T	0.43	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1039;755;816;769;977	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	977;992;977;1039;816;769;769;755	ENSP00000427018:R977Q;ENSP00000384892:R977Q;ENSP00000262231:R816Q;ENSP00000423559:R769Q;ENSP00000386228:R769Q;ENSP00000390665:R755Q	ENSP00000262231:R816Q	R	+	2	0	RIMS2	105070711	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.252000	0.72447	2.617000	0.88574	0.484000	0.47621	CGG		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105001535	G	A	105001535	3	1	34	1	0	0	0	0	1	0	0	0	13368	1116	39	2	3122	2	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	34486082	105001535	41362487	43	2097											
EPPK1	83481	broad.mit.edu	37	chr8	144947336	144947336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgtgccggctcccagcGtggctgccatggctctgggt	2	8	18	13	3	1	0	0	0	1	0	2	0	2	0	3	6	3	3	3	6	0	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:144947336G>A	ENST00000525985.1	-	2	157	c.86C>T	c.(85-87)aCg>aTg	p.T29M				P58107	EPIPL_HUMAN	epiplakin 1	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTCCCAGCGTGGCTGCCAT	0.672																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(85-87)aCg>aTg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							20	27	25					8																	144947336		2142	4241	6383	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947336G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.86C>T	8.37:g.144947336G>A	ENSP00000436337:p.Thr29Met						p.T29M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	99	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		29					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	10.34	1.323024	0.24080	.	.	ENSG00000227184	ENST00000525985	T	0.67345	-0.26	3.46	-3.41	0.04839	.	.	.	.	.	T	0.36082	0.0954	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.10941	-1.0608	9	0.33940	T	0.23	.	1.5899	0.02652	0.3635:0.1751:0.3324:0.129	.	29	E9PPU0	.	M	29	ENSP00000436337:T29M	ENSP00000436337:T29M	T	-	2	0	EPPK1	145019324	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.996000	0.03709	-0.703000	0.05049	-0.481000	0.04817	ACG		0.672	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144947336	G	A	144947336	3	1	34	1	0	0	0	0	1	0	0	0	5190	1145	40	1	7180	1	EPPK1	8	144947336	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	39945801	144947336	1416686	44	2098											
C9orf66	157983	broad.mit.edu	37	chr9	214916	214916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcggctactctgcggcGcgccaggcccccgctttccg	2	8	12	19	7	1	0	0	0	1	0	3	0	3	0	5	3	2	2	5	3	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:214916G>A	ENST00000382387.2	-	1	977	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DOCK8_ENST00000453981.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	161								p.R161C(1)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTCTGCGGCGCGCCAGGCCC	0.687																																						uc003zge.4																			1	Substitution - Missense(1)	p.R161C(2)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(481-483)Cgc>Tgc		Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.							14	14	14					9																	214916		1858	3733	5591	SO:0001583	missense	157983							g.chr9:214916G>A	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.481C>T	9.37:g.214916G>A	ENSP00000371824:p.Arg161Cys					DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	p.R161C	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	0	978	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	161					Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	c.481C>T	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	1.462	-0.562060	0.03939	.	.	ENSG00000183784	ENST00000382387	T	0.22945	1.93	2.59	-2.45	0.06481	.	.	.	.	.	T	0.10165	0.0249	N	0.08118	0	0.20196	N	0.999925	B	0.23806	0.091	B	0.19148	0.024	T	0.26052	-1.0114	9	0.87932	D	0	.	2.3884	0.04372	0.2805:0.0:0.3108:0.4087	.	161	Q5T8R8	CI066_HUMAN	C	161	ENSP00000371824:R161C	ENSP00000371824:R161C	R	-	1	0	C9orf66	204916	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	-0.296000	0.08947	-0.679000	0.03777	CGC		0.687	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		A	214916	G	A	214916	3	1	34	1	0	0	0	0	1	0	0	0	2490	1087	38	1	410	1	C9orf66	9	214916	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		214916	140998515	45	2099											
SUSD1	64420	broad.mit.edu	37	chr9	114874102	114874102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattccatagggtccaaccGttgtccttttatggatatct	8	16	8	9	1	1	1	0	1	1	0	4	2	4	2	4	2	1	1	4	2	4	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:114874102G>A	ENST00000374270.3	-	8	1175	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	SUSD1_ENST00000374264.2_Missense_Mutation_p.R335W|SUSD1_ENST00000374263.3_Missense_Mutation_p.R335W	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	335						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTCCAACCGTTGTCCTTTT	0.498																																						uc010mui.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1003-1005)Cgg>Tgg		Homo sapiens sushi domain containing 1 (SUSD1), mRNA.							181	158	165					9																	114874102		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114874102G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1003C>T	9.37:g.114874102G>A	ENSP00000363388:p.Arg335Trp					MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.R335W|SUSD1_uc010muj.3_Missense_Mutation_p.R335W	p.R335W			Q6UWL2	SUSD1_HUMAN			7	1044	-			335					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1003C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.303411|4.303411	0.81136|0.81136	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.74842|.	-0.8;-0.82;-0.88|.	5.61|5.61	1.5|1.5	0.22942|0.22942	.|.	0.677027|.	0.12991|.	N|.	0.422499|.	T|T	0.45377|0.45377	0.1339|0.1339	M|M	0.77313|0.77313	2.365|2.365	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	P;P;P|.	0.62184|.	0.899;0.854;0.794|.	T|T	0.44892|0.44892	-0.9298|-0.9298	10|5	0.36615|.	T|.	0.2|.	-5.8915|-5.8915	1.6853|1.6853	0.02840|0.02840	0.179:0.1654:0.4844:0.1712|0.179:0.1654:0.4844:0.1712	.|.	335;335;335|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	W|M	335|318	ENSP00000363388:R335W;ENSP00000363381:R335W;ENSP00000363382:R335W|.	ENSP00000363381:R335W|.	R|T	-|-	1|2	2|0	SUSD1|SUSD1	113913923|113913923	0.000000|0.000000	0.05858|0.05858	0.090000|0.090000	0.20809|0.20809	0.930000|0.930000	0.56654|0.56654	0.365000|0.365000	0.20348|0.20348	0.819000|0.819000	0.34492|0.34492	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.498	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		A	114874102	G	A	114874102	3	1	34	1	0	0	0	0	1	0	0	0	15404	1144	40	1	1280	1	SUSD1	9	114874102	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	114659186	114874102	26339329	46	2100											
LAMC3	10319	broad.mit.edu	37	chr9	133927946	133927946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttccgggtgccccccGgggactccccactccctgta	4	8	10	19	2	0	1	0	1	0	0	3	2	3	2	8	3	1	1	8	3	1	2	rs142796007	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:133927946G>A	ENST00000361069.4	+	10	1832	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	567	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCCCCCCGGGGACTCCCC	0.622											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1699-1701)Ggg>Agg		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	51	58	56		1699	3.4	0	9	dbSNP_134	56	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LAMC3	NM_006059.3	125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	567/1576	133927946	3,13003	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133927946G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1699G>A	9.37:g.133927946G>A	ENSP00000354360:p.Gly567Arg		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.G567R	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	9	1797	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	567			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1699G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148086	0.01714	2.27E-4	2.33E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.39787	1.06	5.26	3.44	0.39384	Laminin B type IV (2);	0.453231	0.25714	N	0.028784	T	0.42131	0.1189	L	0.42245	1.32	0.22552	N	0.998998	D	0.58620	0.983	P	0.54346	0.749	T	0.18116	-1.0347	10	0.25106	T	0.35	.	7.0977	0.25319	0.1557:0.1389:0.7054:0.0	.	567	Q9Y6N6	LAMC3_HUMAN	R	567	ENSP00000354360:G567R	ENSP00000347156:G567R	G	+	1	0	LAMC3	132917767	0.475000	0.25894	0.041000	0.18516	0.003000	0.03518	0.865000	0.27940	0.605000	0.29947	-0.347000	0.07816	GGG		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133927946	G	A	133927946	3	1	34	1	0	0	0	0	1	0	0	0	8616	1116	39	2	1737	2	LAMC3	9	133927946	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	19053844	133927946	7285485	47	2101											
ACTA2	59	broad.mit.edu	37	chr10	90699345	90699345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttgcccatcaggcaactCgtaactcttctcaagggagg	10	9	9	13	1	3	0	2	0	2	0	5	1	3	1	1	3	3	2	1	3	3	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr10:90699345C>T	ENST00000458208.1	-	7	1201	c.727G>A	c.(727-729)Gag>Aag	p.E243K	ACTA2_ENST00000480297.1_5'Flank|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E243K	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	243					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCAGGCAACTCGTAACTCTTC	0.512																																						uc001kfp.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.(727-729)Gag>Aag		Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.							140	110	120					10																	90699345		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90699345C>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.727G>A	10.37:g.90699345C>T	ENSP00000402373:p.Glu243Lys					STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E198K|ACTA2_uc001kfq.3_Missense_Mutation_p.E243K|AX748062_uc001kfo.1_Non-coding_Transcript	p.E243K	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	6	843	-		Colorectal(252;0.0161)	243					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.727G>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479742	0.84747	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.95103	-3.61;-3.61	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.77820	2.39	0.80722	D	1	B	0.18968	0.032	B	0.31869	0.137	D	0.92242	0.5801	10	0.87932	D	0	.	19.2286	0.93827	0.0:1.0:0.0:0.0	.	243	P62736	ACTA_HUMAN	K	243;243;198	ENSP00000224784:E243K;ENSP00000402373:E243K	ENSP00000224784:E243K	E	-	1	0	ACTA2	90689325	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	7.818000	0.86416	2.890000	0.99128	0.655000	0.94253	GAG		0.512	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		T	90699345	C	T	90699345	3	4	34	1	0	0	0	0	1	0	0	0	192	893	31	2	418	2	ACTA2	10	90699345	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		90699345	44835402	48	2102											
OR51E2	81285	broad.mit.edu	37	chr11	4703067	4703067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatctgtttggttttggcaCcatagatgatgggattgatg	8	16	13	4	0	1	4	0	3	1	1	1	5	1	5	1	3	0	3	1	3	1	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:4703067C>G	ENST00000396950.3	-	2	1114	c.875G>C	c.(874-876)gGt>gCt	p.G292A		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	292					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTTTTGGCACCATAGATGAT	0.507																																						uc001lzk.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(874-876)gGt>gCt		Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.							162	129	140					11																	4703067		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703067C>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.875G>C	11.37:g.4703067C>G	ENSP00000380153:p.Gly292Ala					OR51E2_uc021qcr.1_Missense_Mutation_p.G292A	p.G292A	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	1119	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	292					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.875G>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269415	0.40095	.	.	ENSG00000167332	ENST00000396950	T	0.35236	1.32	5.18	3.2	0.36748	.	0.313431	0.23137	N	0.051507	T	0.33933	0.0880	L	0.43701	1.375	0.34504	D	0.706392	B	0.22276	0.067	B	0.24974	0.057	T	0.51395	-0.8711	10	0.62326	D	0.03	.	15.6117	0.76727	0.0:0.7236:0.2764:0.0	.	292	Q9H255	O51E2_HUMAN	A	292	ENSP00000380153:G292A	ENSP00000380153:G292A	G	-	2	0	OR51E2	4659643	0.046000	0.20272	0.976000	0.42696	0.938000	0.57974	2.987000	0.49378	1.389000	0.46526	0.655000	0.94253	GGT		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		G	4703067	C	G	4703067	3	3	34	1	0	0	0	0	1	0	0	0	11095	507	18	5	91	5	OR51E2	11	4703067	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		4703067	130303449	49	2103											
OR5I1	10798	broad.mit.edu	37	chr11	55703533	55703533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatggcggccaggatgAaggattctgtatctgcaaaa	12	8	13	8	1	2	1	0	1	2	0	2	3	2	3	2	5	1	2	2	5	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:55703533A>T	ENST00000301532.3	-	1	343	c.344T>A	c.(343-345)tTc>tAc	p.F115Y		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	115					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCAGGATGAAGGATTCTGT	0.433																																						uc010ris.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(343-345)tTc>tAc		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							49	51	51					11																	55703533		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703533A>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.344T>A	11.37:g.55703533A>T	ENSP00000301532:p.Phe115Tyr						p.F115Y	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	344	-			115					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.344T>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732969	0.30684	.	.	ENSG00000167825	ENST00000301532	T	0.05649	3.41	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.15435	0.0372	L	0.48260	1.515	0.09310	N	1	D	0.63880	0.993	D	0.67548	0.952	T	0.13361	-1.0512	10	0.20046	T	0.44	.	12.8531	0.57869	1.0:0.0:0.0:0.0	.	115	Q13606	OR5I1_HUMAN	Y	115	ENSP00000301532:F115Y	ENSP00000301532:F115Y	F	-	2	0	OR5I1	55460109	0.000000	0.05858	0.260000	0.24451	0.050000	0.14768	0.270000	0.18607	1.970000	0.57323	0.519000	0.50382	TTC		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		T	55703533	A	T	55703533	3	4	34	1	0	0	0	0	1	0	0	0	11164	246	9	5	603	5	OR5I1	11	55703533	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	51000466	55703533	79302983	50	2104											
AHNAK	79026	broad.mit.edu	37	chr11	62285595	62285595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacctggccccttcagttCgccagaaacctgtggcccct	7	8	8	18	1	1	1	1	0	0	1	2	1	1	1	7	2	1	1	7	2	1	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:62285595C>T	ENST00000378024.4	-	5	16568	c.16294G>A	c.(16294-16296)Gaa>Aaa	p.E5432K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5432					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTTCAGTTCGCCAGAAACC	0.527																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16294-16296)Gaa>Aaa		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							74	75	75					11																	62285595		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285595C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16294G>A	11.37:g.62285595C>T	ENSP00000367263:p.Glu5432Lys					AHNAK_uc001ntk.1_Intron	p.E5432K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	16594	-		Melanoma(852;0.155)	5432					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16294G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081348	0.20309	.	.	ENSG00000124942	ENST00000378024	T	0.00932	5.53	4.69	4.69	0.59074	.	0.203842	0.23807	U	0.044368	T	0.02012	0.0063	N	0.17674	0.51	0.26697	N	0.971233	D	0.76494	0.999	P	0.61940	0.896	T	0.63152	-0.6701	10	0.19147	T	0.46	-13.7006	17.2349	0.86996	0.0:1.0:0.0:0.0	.	5432	Q09666	AHNK_HUMAN	K	5432	ENSP00000367263:E5432K	ENSP00000367263:E5432K	E	-	1	0	AHNAK	62042171	0.481000	0.25941	0.194000	0.23346	0.138000	0.21146	1.192000	0.32150	2.132000	0.65825	0.453000	0.30009	GAA		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62285595	C	T	62285595	3	4	34	1	0	0	0	0	1	0	0	0	414	893	31	2	1498	2	AHNAK	11	62285595	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	6582062	62285595	72720921	51	2105											
SLC22A9	114571	broad.mit.edu	37	chr11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaaatacatgaaccgtcGagcaagccagatgcttctca	14	8	8	11	2	1	3	1	2	1	1	3	4	1	3	2	0	5	2	2	0	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:63174115G>A	ENST00000279178.3	+	7	1469	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	407					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483																																						uc001nww.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1219-1221)cGa>cAa		Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.							169	128	142					11																	63174115		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63174115G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1220G>A	11.37:g.63174115G>A	ENSP00000279178:p.Arg407Gln					SLC22A9_uc001nwx.3_Non-coding_Transcript	p.R407Q	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			6	1488	+			407					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1220G>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232676	0.58777	.	.	ENSG00000149742	ENST00000279178	T	0.62788	-0.0	3.05	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.070621	0.64402	N	0.000017	T	0.71178	0.3309	M	0.79343	2.45	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.63765	-0.6563	10	0.72032	D	0.01	.	7.4477	0.27221	0.5528:0.0:0.4472:0.0	.	407	Q8IVM8	S22A9_HUMAN	Q	407	ENSP00000279178:R407Q	ENSP00000279178:R407Q	R	+	2	0	SLC22A9	62930691	0.002000	0.14202	0.000000	0.03702	0.461000	0.32589	1.132000	0.31418	-0.424000	0.07382	0.205000	0.17691	CGA		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63174115	G	A	63174115	3	1	34	1	0	0	0	0	1	0	0	0	14461	1058	37	2	1246	2	SLC22A9	11	63174115	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	888520	63174115	71832401	52	2106											
KIAA1377	57562	broad.mit.edu	37	chr11	101815013	101815013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagagcttttgaggagaaacGaaaagaacaggaagaaaaag	21	5	12	3	1	0	5	0	1	0	4	0	8	0	6	0	2	3	1	0	2	8	3	rs145886481		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:101815013G>A	ENST00000263468.8	+	3	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	89										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGGAGAAACGAAAAGAACAG	0.313																																						uc001pgm.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(265-267)cGa>cAa		Homo sapiens KIAA1377 (KIAA1377), mRNA.							59	62	61					11																	101815013		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101815013G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.266G>A	11.37:g.101815013G>A	ENSP00000263468:p.Arg89Gln					KIAA1377_uc001pgn.3_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	p.R89Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	2	536	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	89					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.266G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241594	0.39598	.	.	ENSG00000110318	ENST00000263468	T	0.11277	2.79	5.92	3.0	0.34707	.	0.217453	0.28420	N	0.015409	T	0.24624	0.0597	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.00686	-1.1610	10	0.59425	D	0.04	-5.2409	7.5734	0.27922	0.1449:0.0:0.7189:0.1362	.	89	Q9P2H0	K1377_HUMAN	Q	89	ENSP00000263468:R89Q	ENSP00000263468:R89Q	R	+	2	0	KIAA1377	101320223	0.932000	0.31603	0.910000	0.35882	0.942000	0.58702	0.813000	0.27225	0.798000	0.33994	0.650000	0.86243	CGA		0.313	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		A	101815013	G	A	101815013	3	1	34	1	0	0	0	0	1	0	0	0	8227	1058	37	2	276	2	KIAA1377	11	101815013	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	38640898	101815013	33191503	53	2107											
UBASH3B	84959	broad.mit.edu	37	chr11	122653798	122653798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataagaagcagctacatgtGaccctggcttaccacttcca	12	9	7	13	0	0	2	0	1	0	1	1	2	1	2	3	1	4	3	3	1	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:122653798G>A	ENST00000284273.5	+	5	1014	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	213					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCTACATGTGACCCTGGCTT	0.473																																						uc001pyi.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(637-639)gtG>gtA		Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.							253	245	248					11																	122653798		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122653798G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.639G>A	11.37:g.122653798G>A							p.V213V	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	4	999	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	213					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.639G>A	CCDS31694.1																																																																																				0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		A	122653798	G	A	122653798	2	1	34	1	0	0	0	0	0	0	0	1	16837	1277	45	3		3	UBASH3B	11	122653798	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	20838785	122653798	12352718	54	2108											
APLP2	334	broad.mit.edu	37	chr11	130005535	130005535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacccctgtggacgtccggGtgagctctgaggagagtgag	8	7	17	9	2	1	5	0	3	1	2	2	7	2	6	3	3	1	1	3	3	0	0	rs373551122		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:130005535G>A	ENST00000263574.5	+	13	1834	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	APLP2_ENST00000539648.1_Missense_Mutation_p.V376M|APLP2_ENST00000278756.7_Missense_Mutation_p.V598M|APLP2_ENST00000338167.5_Missense_Mutation_p.V588M|APLP2_ENST00000345598.5_Missense_Mutation_p.V359M|APLP2_ENST00000528499.1_Missense_Mutation_p.V532M|APLP2_ENST00000543137.1_Missense_Mutation_p.V495M	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	588					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGACGTCCGGGTGAGCTCTGA	0.592																																						uc010sby.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1762-1764)Gtg>Atg		Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.							120	106	111					11																	130005535		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130005535G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1762G>A	11.37:g.130005535G>A	ENSP00000263574:p.Val588Met					APLP2_uc001qfp.3_Missense_Mutation_p.V588M|APLP2_uc001qfq.3_Missense_Mutation_p.V532M|APLP2_uc010sbz.2_Missense_Mutation_p.V376M|APLP2_uc001qfr.3_Missense_Mutation_p.V354M|APLP2_uc001qfs.3_Missense_Mutation_p.V359M|APLP2_uc021qsg.1_Missense_Mutation_p.V598M|APLP2_uc001qfv.3_Missense_Mutation_p.V479M|DQ600312_uc021qsh.1_5'Flank	p.V588M	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	12	1919	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	588					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1762G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888377	0.91814	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.993;0.981;0.985;0.999	T	0.70901	-0.4746	10	0.72032	D	0.01	-34.2236	18.2456	0.89984	0.0:0.0:1.0:0.0	.	376;588;532;359;526;532;588	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	M	532;376;588;359;588;598;495	ENSP00000435914:V532M;ENSP00000443728:V376M;ENSP00000263574:V588M;ENSP00000263575:V359M;ENSP00000345444:V588M;ENSP00000278756:V598M;ENSP00000444122:V495M	ENSP00000263574:V588M	V	+	1	0	APLP2	129510745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.357000	0.97099	2.558000	0.86282	0.585000	0.79938	GTG		0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		A	130005535	G	A	130005535	3	1	34	1	0	0	0	0	1	0	0	0	779	1261	44	3	1812	3	APLP2	11	130005535	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	7351737	130005535	5000981	55	2109											
CAPRIN2	65981	broad.mit.edu	37	chr12	30888067	30888067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaacttgaagtatagttCgaagctttttcttctcagcc	10	15	7	9	1	2	2	1	2	2	0	4	3	2	2	1	0	3	3	1	0	5	7	rs139487645	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:30888067C>T	ENST00000395805.2	-	4	1191	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R215Q	NM_001206856.1	NP_001193785.1			caprin family member 2									p.R215Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTATAGTTCGAAGCTTTTT	0.413																																						uc001rji.1																			1	Substitution - Missense(1)	p.R215Q(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(643-645)cGa>cAa		Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	182	172	175		644,644,644,644	3.7	1	12	dbSNP_134	175	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CAPRIN2	NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3	43,43,43,43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	215/1128,215/906,215/1078,215/961	30888067	5,13001	2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30888067C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.644G>A	12.37:g.30888067C>T	ENSP00000379150:p.Arg215Gln					CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjk.4_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.R215Q	p.R215Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			3	1395	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		215						Missense_Mutation	SNP	ENST00000395805.2	37	c.644G>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817715	0.71028	9.08E-4	1.16E-4	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	4.61	3.72	0.42706	.	0.400491	0.26594	N	0.023513	T	0.21468	0.0517	L	0.49126	1.545	0.80722	D	1	D;D;D;D;P	0.60575	0.988;0.979;0.98;0.971;0.891	B;P;P;P;B	0.44897	0.336;0.463;0.462;0.455;0.273	T	0.01951	-1.1241	10	0.62326	D	0.03	-2.0219	9.0864	0.36584	0.0:0.8335:0.0:0.1665	.	215;215;215;215;215	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	Q	215;215;215;215;134;12;12;134	ENSP00000298892:R215Q;ENSP00000379150:R215Q;ENSP00000251071:R215Q;ENSP00000391479:R215Q;ENSP00000438010:R134Q;ENSP00000444137:R12Q;ENSP00000440785:R12Q;ENSP00000443353:R134Q	ENSP00000251071:R215Q	R	-	2	0	CAPRIN2	30779334	0.994000	0.37717	0.985000	0.45067	0.983000	0.72400	1.955000	0.40372	1.155000	0.42497	-0.218000	0.12543	CGA		0.413	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		T	30888067	C	T	30888067	3	4	34	1	0	0	0	0	1	0	0	0	2636	884	31	2	2799	2	CAPRIN2	12	30888067	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		30888067	102963828	56	2110											
OR6C3	254786	broad.mit.edu	37	chr12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatctcatttacaaccGtatgcatccccagatttctg	12	13	5	11	1	2	2	1	0	2	2	4	2	3	2	3	0	3	2	3	0	5	5	rs139430640	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:55725701G>A	ENST00000379667.1	+	1	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428																																						uc010spj.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(217-219)Gta>Ata		Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.			ILE/VAL	0,4406		0,0,2203	95	105	102		217	4.1	0.4	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6C3	NM_054104.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	73/312	55725701	1,13005	2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725701G>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.217G>A	12.37:g.55725701G>A	ENSP00000368989:p.Val73Ile						p.V73I	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			0	217	+			73						Missense_Mutation	SNP	ENST00000379667.1	37	c.217G>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446486	0.43429	0.0	1.16E-4	ENSG00000205329	ENST00000379667	T	0.01234	5.13	5.02	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29424	N	0.012191	T	0.02047	0.0064	L	0.45581	1.43	0.09310	N	1	D	0.54772	0.968	P	0.46629	0.522	T	0.49303	-0.8954	10	0.49607	T	0.09	.	6.1286	0.20194	0.1514:0.0:0.6839:0.1648	.	73	Q9NZP0	OR6C3_HUMAN	I	73	ENSP00000368989:V73I	ENSP00000368989:V73I	V	+	1	0	OR6C3	54011968	0.000000	0.05858	0.410000	0.26471	0.610000	0.37248	0.690000	0.25451	2.771000	0.95319	0.461000	0.40582	GTA		0.428	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			A	55725701	G	A	55725701	3	1	34	1	0	0	0	0	1	0	0	0	11192	1145	40	1	219	1	OR6C3	12	55725701	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	24837634	55725701	78126194	57	2111											
PPFIA2	8499	broad.mit.edu	37	chr12	81747072	81747072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggtggctgcttagtactCcaatctgttgagttctattc	8	15	10	8	0	2	1	0	1	2	0	4	1	3	1	1	2	2	5	1	2	5	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:81747072C>A	ENST00000549396.1	-	17	1980	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	PPFIA2_ENST00000550359.2_Missense_Mutation_p.G454V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G589V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.G607V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G607V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G508V|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G589V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G174V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G533V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G607V	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	607					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTAGTACTCCAATCTGTTG	0.368																																						uc001szo.2																			0		p.G607G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1819-1821)gGa>gTa		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.							137	130	132					12																	81747072		1885	4124	6009	SO:0001583	missense	8499							g.chr12:81747072C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1820G>T	12.37:g.81747072C>A	ENSP00000450337:p.Gly607Val					PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G533V|PPFIA2_uc021rbh.1_Missense_Mutation_p.G508V|PPFIA2_uc021rbi.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbj.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbk.1_Missense_Mutation_p.G589V|PPFIA2_uc021rbl.1_Missense_Mutation_p.G607V|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G174V|PPFIA2_uc021rbf.1_5'UTR	p.G607V	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			16	1981	-			533					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1820G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744087	0.49151	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.44	4.53	0.55603	.	0.118193	0.56097	D	0.000027	T	0.45054	0.1323	L	0.50333	1.59	0.80722	D	1	B	0.23249	0.082	B	0.24394	0.053	T	0.39210	-0.9625	10	0.51188	T	0.08	-20.7501	15.2418	0.73476	0.0:0.734:0.266:0.0	.	607	O75334	LIPA2_HUMAN	V	607;589;174;533;618;589;607;508;607;188	ENSP00000450337:G607V;ENSP00000450298:G589V;ENSP00000438337:G174V;ENSP00000385093:G533V;ENSP00000327416:G589V;ENSP00000449338:G607V;ENSP00000388373:G508V;ENSP00000447868:G607V;ENSP00000448941:G188V	ENSP00000327416:G589V	G	-	2	0	PPFIA2	80271203	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	3.257000	0.51500	1.239000	0.43787	0.585000	0.79938	GGA		0.368	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81747072	C	A	81747072	3	1	34	1	0	0	0	0	1	0	0	0	12310	855	30	5	2017	5	PPFIA2	12	81747072	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	26021371	81747072	52104823	58	2112											
ANO4	121601	broad.mit.edu	37	chr12	101520783	101520783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgaagcagaactggaaCgtctccagaaggaacgaaag	16	6	12	7	2	1	3	0	1	1	2	2	6	1	5	1	2	4	2	1	2	7	1	rs139827573		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:101520783C>T	ENST00000392977.3	+	27	3013	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	ANO4_ENST00000299222.9_Missense_Mutation_p.R455C|ANO4_ENST00000550015.1_Missense_Mutation_p.R455C|ANO4_ENST00000392979.3_Missense_Mutation_p.R900C			Q32M45	ANO4_HUMAN	anoctamin 4	935					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R900S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACTGGAACGTCTCCAGAA	0.483										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)	p.R900S(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2803-2805)Cgt>Tgt		Homo sapiens anoctamin 4 (ANO4), mRNA.		C	CYS/ARG	0,4406		0,0,2203	125	96	106		2698	5.6	1	12	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	ANO4	NM_178826.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	900/921	101520783	2,13004	2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520783C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2803C>T	12.37:g.101520783C>T	ENSP00000376703:p.Arg935Cys	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	p.R935C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			26	3375	+			935					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2803C>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.271693	0.80469	0.0	2.33E-4	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.70631	-0.49;-0.36;-0.5;-0.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62184	0.899;0.871;0.899	T	0.74466	-0.3656	10	0.66056	D	0.02	.	14.7364	0.69419	0.1447:0.8553:0.0:0.0	.	455;935;900	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	C	900;455;935;455	ENSP00000376705:R900C;ENSP00000299222:R455C;ENSP00000376703:R935C;ENSP00000450192:R455C	ENSP00000299222:R455C	R	+	1	0	ANO4	100044914	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.442000	0.44873	2.769000	0.95229	0.655000	0.94253	CGT		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		T	101520783	C	T	101520783	3	4	34	1	0	0	0	0	1	0	0	0	699	536	19	1	2796	1	ANO4	12	101520783	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	19773711	101520783	32331112	59	2113											
TMEM132D	121256	broad.mit.edu	37	chr12	130184923	130184923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtagactttgtcccgcaGgatgtgggcttttagtttcc	6	14	12	9	1	0	1	0	0	0	1	2	2	2	2	2	3	0	4	2	3	2	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:130184923G>C	ENST00000422113.2	-	2	726	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	134					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTCCCGCAGGATGTGGGCT	0.537																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(400-402)Ctg>Gtg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							46	46	46					12																	130184923		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184923G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.400C>G	12.37:g.130184923G>C	ENSP00000408581:p.Leu134Val						p.L134V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	728	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	134					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.400C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	3.065	-0.192388	0.06259	.	.	ENSG00000151952	ENST00000422113	T	0.09817	2.94	5.33	-0.947	0.10382	.	0.493567	0.16548	N	0.209626	T	0.06826	0.0174	L	0.38733	1.17	0.28063	N	0.932875	B	0.12013	0.005	B	0.11329	0.006	T	0.33007	-0.9885	9	.	.	.	-9.71	5.3048	0.15797	0.0707:0.1625:0.4613:0.3055	.	134	Q14C87	T132D_HUMAN	V	134	ENSP00000408581:L134V	.	L	-	1	2	TMEM132D	128750876	1.000000	0.71417	0.814000	0.32528	0.677000	0.39632	0.640000	0.24705	-0.053000	0.13289	0.555000	0.69702	CTG		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		C	130184923	G	C	130184923	3	2	34	1	0	0	0	0	1	0	0	0	16044	991	35	5	2931	5	TMEM132D	12	130184923	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	28664140	130184923	3666972	60	2114											
FLT1	2321	broad.mit.edu	37	chr13	28931760	28931760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgcagtgatagacacCttcatcctcttctgtgactc	7	14	8	12	0	3	3	1	2	2	1	5	3	4	3	2	1	1	2	2	1	1	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:28931760C>A	ENST00000282397.4	-	15	2430	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	727	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.G727C(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATAGACACCTTCATCCTCT	0.448																																						uc001usb.3																			1	Substitution - Missense(1)	p.G727C(2)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2179-2181)Ggt>Tgt		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						212	195	201					13																	28931760		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28931760C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2179G>T	13.37:g.28931760C>A	ENSP00000282397:p.Gly727Cys						p.G727C	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	14	2464	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	727			Ig-like C2-type 7.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2179G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510309	0.85282	.	.	ENSG00000102755	ENST00000282397	T	0.81415	-1.49	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96390	0.9288	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	727	P17948	VGFR1_HUMAN	C	727	ENSP00000282397:G727C	ENSP00000282397:G727C	G	-	1	0	FLT1	27829760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.884000	0.98904	0.655000	0.94253	GGT		0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			A	28931760	C	A	28931760	3	1	34	1	0	0	0	0	1	0	0	0	5941	681	24	5	1901	5	FLT1	13	28931760	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		28931760	86238118	61	2115											
BIVM	54841	broad.mit.edu	37	chr13	103491945	103491945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggaaatttgcattgcatCatagcattccagagacttaa	13	11	10	7	0	1	1	1	0	0	1	2	3	2	2	1	2	3	3	1	2	3	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:103491945C>T	ENST00000257336.1	+	11	1921	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	BIVM_ENST00000448849.2_Silent_p.I192I|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.H386Y|BIVM_ENST00000419638.1_3'UTR	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	414						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATTGCATCATAGCATTCC	0.398																																						uc001vpu.2																			0											c.(1240-1242)atC>atT		Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.							84	86	85					13																	103491945		2203	4300	6503	SO:0001819	synonymous_variant	2073				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103491945C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1242C>T	13.37:g.103491945C>T						BIVM-ERCC5_uc001vps.3_Silent_p.I414I|BIVM-ERCC5_uc010agc.3_Silent_p.I192I|BIVM-ERCC5_uc001vpv.3_Silent_p.I185I	p.I414I	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN			8	1364	+			385					Q2M1J2|Q9NXM4	Silent	SNP	ENST00000257336.1	37	c.1242C>T	CCDS9505.1																																																																																				0.398	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			T	103491945	C	T	103491945	2	4	34	1	0	0	0	0	0	0	0	1	1441	816	29	3		3	BIVM	13	103491945	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	74560185	103491945	11677933	62	2116											
ANKRD10	55608	broad.mit.edu	37	chr13	111532388	111532388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgagcggggtcgtggaggGgaagtccaaatgtccattga	10	8	16	7	2	0	2	0	2	0	0	3	4	2	4	2	5	1	0	2	5	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:111532388G>A	ENST00000267339.2	-	6	993	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	287										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTCGTGGAGGGGAAGTCCAAA	0.473																																						uc001vrn.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(859-861)Ccc>Tcc		Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.							75	76	76					13																	111532388		2203	4300	6503	SO:0001583	missense	55608							g.chr13:111532388G>A	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"Ankyrin repeat domain containing"	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.859C>T	13.37:g.111532388G>A	ENSP00000267339:p.Pro287Ser					ANKRD10_uc001vrm.3_Missense_Mutation_p.P24S|ANKRD10_uc001vrl.3_Non-coding_Transcript	p.P287S	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		5	994	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		287					Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	c.859C>T	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164252	0.06502	.	.	ENSG00000088448	ENST00000267339	T	0.68903	-0.36	5.03	0.987	0.19790	.	0.748585	0.12967	N	0.424516	T	0.53012	0.1770	L	0.56769	1.78	0.80722	D	1	B	0.17852	0.024	B	0.10450	0.005	T	0.40961	-0.9535	10	0.23302	T	0.38	-7.3401	1.281	0.02040	0.1746:0.1273:0.3362:0.362	.	287	Q9NXR5	ANR10_HUMAN	S	287	ENSP00000267339:P287S	ENSP00000267339:P287S	P	-	1	0	ANKRD10	110330389	1.000000	0.71417	0.971000	0.41717	0.952000	0.60782	1.296000	0.33389	0.141000	0.18875	-0.391000	0.06502	CCC		0.473	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			A	111532388	G	A	111532388	3	1	34	1	0	0	0	0	1	0	0	0	638	1232	43	3	407	3	ANKRD10	13	111532388	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	8040443	111532388	3637490	63	2117											
TGM5	9333	broad.mit.edu	37	chr15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgaaggcctggccccGgcgaacaagcaggtggtcca	9	5	16	11	2	0	1	0	1	0	0	1	3	1	1	4	6	2	2	4	6	3	1	rs370983556		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:43552685G>A	ENST00000220420.5	-	2	110	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_ENST00000349114.4_Missense_Mutation_p.R35W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	35					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572																																						uc001zrd.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(103-105)Cgg>Tgg		Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	L-Glutamine(DB00130)	G	TRP/ARG,TRP/ARG	0,4404		0,0,2202	107	111	110		103,103	2.5	1	15		110	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	101,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	35/639,35/721	43552685	1,13001	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552685G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.103C>T	15.37:g.43552685G>A	ENSP00000220420:p.Arg35Trp					TGM5_uc001zre.2_Missense_Mutation_p.R35W	p.R35W	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	1	111	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	35					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.103C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537117	0.45176	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.98958	-5.27;-5.27	5.64	2.49	0.30216	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.91196	3.185	0.27203	N	0.960122	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96408	0.9302	10	0.87932	D	0	-30.4928	12.6995	0.57024	0.0:0.0:0.4354:0.5646	.	35;35	O43548-2;O43548	.;TGM5_HUMAN	W	35;35;34	ENSP00000220420:R35W;ENSP00000220419:R35W	ENSP00000220420:R35W	R	-	1	2	TGM5	41339977	0.240000	0.23847	0.995000	0.50966	0.130000	0.20726	0.259000	0.18405	0.670000	0.31165	0.555000	0.69702	CGG		0.572	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		A	43552685	G	A	43552685	3	1	34	1	0	0	0	0	1	0	0	0	15830	1115	39	2	2107	2	TGM5	15	43552685	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		43552685	58978707	64	2118											
PML	5371	broad.mit.edu	37	chr15	74315385	74315385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggccgcgcgcgtgcCgagaccgaggagctgatccg	6	4	17	14	7	0	2	0	1	0	1	1	5	1	3	4	2	3	2	4	2	0	0	rs112627818	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:74315385C>T	ENST00000268058.3	+	3	915	c.819C>T	c.(817-819)gcC>gcT	p.A273A	PML_ENST00000395132.2_Silent_p.A273A|PML_ENST00000354026.6_Silent_p.A273A|PML_ENST00000563500.1_Silent_p.A273A|PML_ENST00000395135.3_Silent_p.A273A|PML_ENST00000359928.4_Silent_p.A273A|PML_ENST00000564428.1_Silent_p.A273A|PML_ENST00000569477.1_Silent_p.A273A|PML_ENST00000435786.2_Silent_p.A273A|PML_ENST00000569161.1_3'UTR|PML_ENST00000268059.6_Silent_p.A273A|PML_ENST00000565898.1_Silent_p.A273A|PML_ENST00000436891.3_Silent_p.A273A|PML_ENST00000567543.1_Silent_p.A273A|PML_ENST00000569965.1_Silent_p.A273A	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	273					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A273A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCGCGTGCCGAGACCGAGG	0.716			T	"RARA, PAX5"	"APL, ALL"																																	uc002awv.3				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		1	Substitution - coding silent(1)	p.A273A(2)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(817-819)gcC>gcT		Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.							12	13	13					15																	74315385		2174	4239	6413	SO:0001819	synonymous_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315385C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.819C>T	15.37:g.74315385C>T						PML_uc002awj.1_Silent_p.A273A|PML_uc002awm.3_Silent_p.A273A|PML_uc002awl.3_Silent_p.A273A|PML_uc002awk.3_Silent_p.A273A|PML_uc002awn.3_Silent_p.A273A|PML_uc002awo.3_Silent_p.A273A|PML_uc002awp.3_Silent_p.A273A|PML_uc002awq.3_Silent_p.A273A|PML_uc002awr.3_Silent_p.A273A|PML_uc002aws.3_Silent_p.A273A|PML_uc002awt.3_Silent_p.A273A|PML_uc002awu.3_Silent_p.A273A|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.A188A|PML_uc002awx.3_Silent_p.A31A|PML_uc002awy.3_5'Flank	p.A273A	NM_033238	NP_150241	P29590	PML_HUMAN			2	959	+			273					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.819C>T	CCDS10255.1																																																																																				0.716	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74315385	C	T	74315385	2	4	34	1	0	0	0	0	0	0	0	1	12135	639	23	2		2	PML	15	74315385	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	30762700	74315385	28216007	65	2119											
ZNF597	146434	broad.mit.edu	37	chr16	3490932	3490932	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcctcaaagagtattggtCcctgaaacacaagagcctgt	13	9	9	10	0	1	3	1	1	0	2	3	4	3	3	3	1	2	1	3	1	4	2	rs139189056	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:3490932C>A	ENST00000301744.4	-	3	270	c.35G>T	c.(34-36)gGa>gTa	p.G12V	NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000424546.2_5'Flank|NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000608722.1_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTATTGGTCCCTGAAACAC	0.507																																						uc002cvd.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.e3-1		Homo sapiens zinc finger protein 597 (ZNF597), mRNA.							60	59	60					16																	3490932		2197	4300	6497	SO:0001630	splice_region_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3490932C>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.34-1G>T	16.37:g.3490932C>A						NAA60_uc002cvh.4_5'Flank|NAA60_uc010uxb.1_5'Flank	p.G12_splice	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			3	218	-			12						Missense_Mutation	SNP	ENST00000301744.4	37	c.34_splice	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897046	0.52121	.	.	ENSG00000167981	ENST00000301744	T	0.00873	5.59	4.27	2.31	0.28768	Krueppel-associated box (1);	0.410836	0.18084	N	0.152207	T	0.02610	0.0079	L	0.57536	1.79	0.46823	D	0.999216	D	0.67145	0.996	P	0.61132	0.884	T	0.58228	-0.7673	10	0.56958	D	0.05	-2.8434	6.4788	0.22051	0.0:0.7787:0.0:0.2213	.	12	Q96LX8	ZN597_HUMAN	V	12	ENSP00000301744:G12V	ENSP00000301744:G12V	G	-	2	0	ZNF597	3430933	0.002000	0.14202	0.798000	0.32154	0.849000	0.48306	-0.437000	0.06914	0.553000	0.29044	0.563000	0.77884	GGA		0.507	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457	Missense_Mutation	A	3490932	C	A	3490932	5	1	34	1	0	0	0	0	0	0	1	0	18024	869	30	5	1247	5	ZNF597	16	3490932	Splice_Site	SNP	C	TCGA-06-0173-01A-01D-1491-08		3490932	86863821	66	2120											
A2BP1	54715	broad.mit.edu	37	chr16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtatccccgcggaatacaCggcccctcatccccaccccg	7	5	8	21	5	1	0	1	0	0	0	3	1	3	1	8	3	1	1	8	3	3	2	rs146499343		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:7568246C>T	ENST00000550418.1	+	5	1113	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.T47M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	42					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGGAATACACGGCCCCTCAT	0.637																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(124-126)aCg>aTg		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4394		0,0,2197	121	118	119		125,125,125,185,185,185	4.8	1	16	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	81,81,81,81,81,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	42/371,42/398,42/398,62/419,62/393,62/396	7568246	1,12993	2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568246C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.125C>T	16.37:g.7568246C>T	ENSP00000450031:p.Thr42Met					RBFOX1_uc010buf.1_Missense_Mutation_p.T42M|RBFOX1_uc002cyr.1_Missense_Mutation_p.T42M|RBFOX1_uc002cyt.2_Missense_Mutation_p.T42M|RBFOX1_uc010uxz.1_Missense_Mutation_p.T85M|RBFOX1_uc010uya.1_Missense_Mutation_p.T78M|RBFOX1_uc002cyv.1_Missense_Mutation_p.T42M|RBFOX1_uc010uyb.1_Missense_Mutation_p.T42M|RBFOX1_uc002cyw.2_Missense_Mutation_p.T62M|RBFOX1_uc002cyy.2_Missense_Mutation_p.T62M|RBFOX1_uc002cyx.2_Missense_Mutation_p.T62M|RBFOX1_uc010uyc.1_Missense_Mutation_p.T62M	p.T42M	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			4	1113	+			42					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.125C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643869	0.87859	0.0	1.16E-4	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.9;1.44;1.74;1.7;1.71;1.85;1.44;1.57;1.77;1.75;1.46	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;0.978;0.962;0.999	D;D;D;D;P;D;P;P;D	0.87578	0.977;0.994;0.952;0.97;0.796;0.998;0.796;0.629;0.949	T	0.33343	-0.9872	10	0.34782	T	0.22	-7.3313	17.9952	0.89181	0.0:1.0:0.0:0.0	.	62;78;85;62;62;62;42;42;85	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	42;42;42;85;85;78;78;42;42;62;62;62;62;47	ENSP00000450402:T42M;ENSP00000450031:T42M;ENSP00000447753:T42M;ENSP00000446842:T85M;ENSP00000391269:T85M;ENSP00000447281:T42M;ENSP00000447717:T42M;ENSP00000402745:T62M;ENSP00000309117:T62M;ENSP00000347855:T62M;ENSP00000344196:T47M	ENSP00000309117:T62M	T	+	2	0	RBFOX1	7508247	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	ACG		0.637	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		T	7568246	C	T	7568246	3	4	34	1	0	0	0	0	1	0	0	0	3	536	19	1	222	1	A2BP1	16	7568246	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	4077314	7568246	82786507	67	2121											
ACSM1	116285	broad.mit.edu	37	chr16	20702408	20702408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccatcttggggctccaaAttctgataaagaccggcagc	11	10	9	11	1	2	2	0	1	2	1	4	2	4	2	3	3	1	2	3	3	3	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:20702408A>G	ENST00000307493.4	-	1	170	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	ACSM1_ENST00000520010.1_Missense_Mutation_p.F35L|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	35					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGGCTCCAAATTCTGATAAA	0.498																																						uc002dhm.1																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(103-105)Ttt>Ctt		Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.							135	143	140					16																	20702408		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20702408A>G	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.103T>C	16.37:g.20702408A>G	ENSP00000301956:p.Phe35Leu					ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	p.F35L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			0	171	-			35					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.103T>C	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	a	5.843	0.339715	0.11069	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.39787	1.06;1.06;1.65	4.43	-8.85	0.00799	.	1.607420	0.03624	N	0.236819	T	0.19805	0.0476	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.13737	-1.0498	10	0.41790	T	0.15	-25.5596	2.3853	0.04364	0.1851:0.1146:0.3793:0.321	.	35	Q08AH1	ACSM1_HUMAN	L	35	ENSP00000301956:F35L;ENSP00000428047:F35L;ENSP00000428830:F35L	ENSP00000301956:F35L	F	-	1	0	ACSM1	20609909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.611000	0.00059	-3.034000	0.00265	-4.098000	0.00011	TTT		0.498	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		G	20702408	A	G	20702408	3	3	34	1	0	0	0	0	1	0	0	0	182	101	4	4	1682	4	ACSM1	16	20702408	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	13134162	20702408	69652345	68	2122											
VWA3A	146177	broad.mit.edu	37	chr16	22142922	22142922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgggccctgaacctgCggtgtcggggcagcaggaac	7	5	18	11	2	0	1	0	1	0	0	1	2	0	2	2	6	4	3	2	6	2	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:22142922C>T	ENST00000389398.5	+	19	1840	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	582	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTGAACCTGCGGTGTCGGGG	0.577																																						uc010vbq.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1744-1746)Cgg>Tgg		Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.							47	49	48					16																	22142922		1987	4166	6153	SO:0001583	missense	146177					extracellular region		g.chr16:22142922C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1744C>T	16.37:g.22142922C>T	ENSP00000374049:p.Arg582Trp					VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	p.R582W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	18	1840	+			582			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1744C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506269	0.44558	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.08193	3.12	5.36	2.1	0.27182	.	0.992462	0.08191	N	0.983840	T	0.12689	0.0308	N	0.24115	0.695	0.36916	D	0.891146	D;D	0.76494	0.999;0.997	P;P	0.56916	0.809;0.711	T	0.34875	-0.9811	10	0.87932	D	0	.	9.078	0.36534	0.3687:0.5132:0.1181:0.0	.	582;206	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	W	582;205	ENSP00000374049:R582W	ENSP00000299840:R205W	R	+	1	2	VWA3A	22050423	0.097000	0.21791	0.656000	0.29637	0.335000	0.28730	0.258000	0.18387	1.222000	0.43521	0.563000	0.77884	CGG		0.577	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			T	22142922	C	T	22142922	3	4	34	1	0	0	0	0	1	0	0	0	17237	759	27	1	1818	1	VWA3A	16	22142922	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	1440514	22142922	68211831	69	2123											
CD19	930	broad.mit.edu	37	chr16	28948983	28948983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgaagagctgacccagCcggtcgccaggacaatgggt	11	5	15	10	2	0	3	0	2	0	1	1	5	0	5	3	4	2	1	3	4	2	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:28948983C>T	ENST00000324662.3	+	11	1455	c.1411C>T	c.(1411-1413)Ccg>Tcg	p.P471S	CD19_ENST00000567541.1_Missense_Mutation_p.P471S|CD19_ENST00000538922.1_Missense_Mutation_p.P471S			P15391	CD19_HUMAN	CD19 molecule	471					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCTGACCCAGCCGGTCGCCAG	0.577																																						uc010byo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(1411-1413)Ccg>Tcg		Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.							80	82	81					16																	28948983		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948983C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1411C>T	16.37:g.28948983C>T	ENSP00000313419:p.Pro471Ser					NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P471S	p.P471S	NM_001178098	NP_001171569	P15391	CD19_HUMAN			10	1473	+			471					A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1411C>T	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537940	0.85917	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.48836	0.8;0.8	4.36	3.38	0.38709	.	0.163222	0.29145	N	0.013002	T	0.39279	0.1072	L	0.29908	0.895	0.19775	N	0.999951	P;P	0.46064	0.872;0.798	P;B	0.45856	0.495;0.3	T	0.21655	-1.0239	10	0.62326	D	0.03	-7.1174	9.7212	0.40304	0.2077:0.7922:0.0:0.0	.	471;471	F5H635;P15391	.;CD19_HUMAN	S	471;278;471;320	ENSP00000437940:P471S;ENSP00000313419:P471S	ENSP00000313419:P471S	P	+	1	0	CD19	28856484	0.025000	0.19082	0.277000	0.24703	0.892000	0.51952	1.308000	0.33528	0.925000	0.37094	0.313000	0.20887	CCG		0.577	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			T	28948983	C	T	28948983	3	4	34	1	0	0	0	0	1	0	0	0	2973	739	26	3	1453	3	CD19	16	28948983	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	6806061	28948983	61405770	70	2124											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455265	4455265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcagcaggggcagggcCgcgcccagcaggcggaaaca	9	3	17	12	3	1	0	1	0	0	0	1	1	1	1	2	6	3	3	2	6	1	1	rs149464957		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:4455265C>T	ENST00000254718.4	-	8	1239	c.933G>A	c.(931-933)gcG>gcA	p.A311A	MYBBP1A_ENST00000381556.2_Silent_p.A311A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	311	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCAGGGCCGCGCCCAGCA	0.632													c|||	1	0.000199681	0	0	5008	,	,		17801	0.001		0	False		,,,				2504	0					uc002fxz.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(931-933)gcG>gcA		Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.			,	0,4406		0,0,2203	78	77	78		933,933	-10.2	0	17	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	311/1333,311/1329	4455265	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455265C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.933G>A	17.37:g.4455265C>T						MYBBP1A_uc002fyb.4_Silent_p.A311A	p.A311A	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN			7	995	-			311			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.933G>A	CCDS11046.1																																																																																				0.632	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4455265	C	T	4455265	2	4	34	1	0	0	0	0	0	0	0	1	10008	639	23	2		2	MYBBP1A	17	4455265	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08		4455265	76739945	71	2125											
DVL2	1856	broad.mit.edu	37	chr17	7132476	7132476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagcatgtcccctggcTcaatgcgcccgtcggccgcc	7	6	11	17	4	1	0	1	0	0	0	3	0	2	0	5	2	2	3	5	2	3	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7132476T>C	ENST00000005340.5	-	8	1217	c.935A>G	c.(934-936)gAg>gGg	p.E312G	DVL2_ENST00000575458.1_Missense_Mutation_p.E306G|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	312	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCCCCTGGCTCAATGCGCCC	0.637																																						uc002gez.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(934-936)gAg>gGg		Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.							66	64	65					17																	7132476		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7132476T>C	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.935A>G	17.37:g.7132476T>C	ENSP00000005340:p.Glu312Gly					DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	p.E312G	NM_004422	NP_004413	O14641	DVL2_HUMAN			7	1217	-			312			PDZ.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.935A>G	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377810	0.82682	.	.	ENSG00000004975	ENST00000005340	T	0.29655	1.56	5.26	4.19	0.49359	PDZ/DHR/GLGF (4);	0.105172	0.64402	D	0.000007	T	0.53965	0.1829	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.965;0.994	T	0.56220	-0.8015	10	0.87932	D	0	-19.5356	9.1575	0.37000	0.0:0.087:0.0:0.913	.	306;312	B4DLQ0;O14641	.;DVL2_HUMAN	G	312	ENSP00000005340:E312G	ENSP00000005340:E312G	E	-	2	0	DVL2	7073200	1.000000	0.71417	0.957000	0.39632	0.960000	0.62799	7.989000	0.88205	0.860000	0.35481	0.459000	0.35465	GAG		0.637	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		C	7132476	T	C	7132476	3	2	34	1	0	0	0	0	1	0	0	0	4836	1551	54	4	1307	4	DVL2	17	7132476	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	2677211	7132476	74062734	72	2126											
DNAH2	146754	broad.mit.edu	37	chr17	7674216	7674216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaggttattgagatgAttctcacagtgcagcgtcag	9	14	12	6	1	2	2	2	2	1	1	3	4	2	3	0	2	2	2	0	2	1	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7674216A>T	ENST00000572933.1	+	27	5787	c.4327A>T	c.(4327-4329)Att>Ttt	p.I1443F	DNAH2_ENST00000389173.2_Missense_Mutation_p.I1443F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1443	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGAGATGATTCTCACAGT	0.493																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4327-4329)Att>Ttt		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							133	111	119					17																	7674216		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7674216A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4327A>T	17.37:g.7674216A>T	ENSP00000458355:p.Ile1443Phe						p.I1443F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			25	4341	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1443			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4327A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876864	0.51801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61392	0.11	4.96	0.635	0.17723	Dynein heavy chain, domain-2 (1);	0.346446	0.28109	N	0.016565	T	0.51907	0.1702	L	0.51914	1.62	0.80722	D	1	B	0.26483	0.15	B	0.41813	0.367	T	0.50600	-0.8809	10	0.72032	D	0.01	.	1.207	0.01896	0.2447:0.2781:0.3344:0.1428	.	1443	Q9P225	DYH2_HUMAN	F	1443	ENSP00000373825:I1443F	ENSP00000353818:I1443F	I	+	1	0	DNAH2	7614941	1.000000	0.71417	0.890000	0.34922	0.990000	0.78478	1.174000	0.31932	0.073000	0.16731	-0.248000	0.11899	ATT		0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7674216	A	T	7674216	3	4	34	1	0	0	0	0	1	0	0	0	4602	333	12	5	4429	5	DNAH2	17	7674216	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	541740	7674216	73520994	73	2127											
DNAH9	1770	broad.mit.edu	37	chr17	11523026	11523026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaaccaggaagtcaaGgaatgggatttccagtcttc	15	8	11	7	0	2	1	1	0	1	1	4	5	3	4	2	3	1	0	2	3	5	2	rs371049893		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:11523026G>T	ENST00000262442.4	+	6	1346	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K426N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	426	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAAGTCAAGGAATGGGATT	0.502																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1276-1278)aaG>aaT		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							137	131	133					17																	11523026		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11523026G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1278G>T	17.37:g.11523026G>T	ENSP00000262442:p.Lys426Asn						p.K426N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	5	1346	+		Breast(5;0.0122)|all_epithelial(5;0.131)	426			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1278G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116207	0.37339	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56776	0.44;0.44	5.98	2.9	0.33743	Dynein heavy chain, domain-1 (1);	0.554923	0.19169	N	0.120972	T	0.45716	0.1356	L	0.39898	1.24	0.09310	N	0.999998	P	0.41498	0.752	P	0.45794	0.493	T	0.28490	-1.0042	10	0.45353	T	0.12	.	6.224	0.20698	0.199:0.2553:0.5457:0.0	.	426	Q9NYC9	DYH9_HUMAN	N	426	ENSP00000262442:K426N;ENSP00000414874:K426N	ENSP00000262442:K426N	K	+	3	2	DNAH9	11463751	0.000000	0.05858	0.192000	0.23308	0.994000	0.84299	0.523000	0.22925	0.420000	0.25954	0.591000	0.81541	AAG		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11523026	G	T	11523026	3	4	34	1	0	0	0	0	1	0	0	0	4608	991	35	5	1300	5	DNAH9	17	11523026	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	3848810	11523026	69672184	74	2128											
FOXN1	8456	broad.mit.edu	37	chr17	26861357	26861357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccggcagacagcaccCgatggctggaagaattctgt	9	9	12	11	2	1	2	0	0	1	2	2	4	2	3	2	3	1	4	2	3	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:26861357C>T	ENST00000226247.2	+	6	965	c.936C>T	c.(934-936)ccC>ccT	p.P312P	FOXN1_ENST00000579795.1_Silent_p.P312P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	312					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGACAGCACCCGATGGCTGGA	0.552																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(934-936)ccC>ccT		Homo sapiens forkhead box N1 (FOXN1), mRNA.							69	69	69					17																	26861357		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861357C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.936C>T	17.37:g.26861357C>T						FOXN1_uc002hbj.3_Silent_p.P312P	p.P312P	NM_003593	NP_003584	O15353	FOXN1_HUMAN			6	1134	+	Lung NSC(42;0.00431)		312					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.936C>T	CCDS11232.1																																																																																				0.552	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			T	26861357	C	T	26861357	2	4	34	1	0	0	0	0	0	0	0	1	6019	639	23	2		2	FOXN1	17	26861357	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	15338331	26861357	54333853	75	2129											
SLFN13	146857	broad.mit.edu	37	chr17	33768202	33768202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggtctgaaagtagtcCagaaagatccagagaactcc	14	8	10	9	0	1	5	0	2	1	3	4	6	4	5	3	1	1	1	3	1	4	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:33768202C>T	ENST00000285013.6	-	6	2381	c.2106G>A	c.(2104-2106)ctG>ctA	p.L702L	SLFN13_ENST00000526861.1_Silent_p.L702L|SLFN13_ENST00000534689.1_Silent_p.L384L|SLFN13_ENST00000542635.1_Silent_p.L702L|SLFN13_ENST00000533791.1_Silent_p.L702L|SLFN13_ENST00000360502.2_Silent_p.L384L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	702						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAGTAGTCCAGAAAGATCC	0.483																																						uc002hjk.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2104-2106)ctG>ctA		Homo sapiens schlafen family member 13 (SLFN13), mRNA.							128	135	133					17																	33768202		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33768202C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2106G>A	17.37:g.33768202C>T						SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc002hjm.2_Silent_p.L371L|SLFN13_uc010ctt.2_Silent_p.L384L	p.L702L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	2436	-			702					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.2106G>A	CCDS32620.1																																																																																				0.483	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		T	33768202	C	T	33768202	2	4	34	1	0	0	0	0	0	0	0	1	14736	581	21	3		3	SLFN13	17	33768202	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	6906845	33768202	47427008	76	2130											
MYOM1	8736	broad.mit.edu	37	chr18	3067533	3067533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgggtctccccacacGttgcaagtgagattaagggc	9	7	15	10	2	1	1	0	1	1	1	2	3	1	2	2	4	1	2	2	4	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:3067533G>A	ENST00000356443.4	-	38	5118	c.4785C>T	c.(4783-4785)aaC>aaT	p.N1595N	MYOM1_ENST00000261606.7_Silent_p.N1499N|MYOM1_ENST00000400569.3_Silent_p.N1595N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1595	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCCCCACACGTTGCAAGTGA	0.537																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(4783-4785)aaC>aaT		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							40	43	42					18																	3067533		2066	4220	6286	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3067533G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4785C>T	18.37:g.3067533G>A						MYOM1_uc002klq.3_Silent_p.N1499N	p.N1595N	NM_003803	NP_003794	P52179	MYOM1_HUMAN			37	5119	-			1595			Ig-like C2-type 5.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.4785C>T	CCDS45824.1																																																																																				0.537	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3067533	G	A	3067533	2	1	34	1	0	0	0	0	0	0	0	1	10091	1136	40	1		1	MYOM1	18	3067533	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08		3067533	75009715	77	2131											
ROCK1	6093	broad.mit.edu	37	chr18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttttgaccactttccGgaaagactgatttgcagtgg	9	15	10	7	1	0	3	0	2	0	1	1	4	1	4	2	2	1	2	2	2	2	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:18533573G>A	ENST00000399799.2	-	32	4967	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1343	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358																																						uc002kte.3																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(4027-4029)Cgg>Tgg		Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.							91	101	97					18																	18533573		2201	4296	6497	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18533573G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.4027C>T	18.37:g.18533573G>A	ENSP00000382697:p.Arg1343Trp						p.R1343W	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			31	4968	-	Melanoma(1;0.165)		1343			Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.4027C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764115	0.31228	.	.	ENSG00000067900	ENST00000399799	T	0.72394	-0.65	4.88	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	N	0.08118	0	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75628	-0.3252	10	0.87932	D	0	.	13.4607	0.61225	0.0:0.0:0.6287:0.3713	.	1343	Q13464	ROCK1_HUMAN	W	1343	ENSP00000382697:R1343W	ENSP00000382697:R1343W	R	-	1	2	ROCK1	16787571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.691000	0.54720	1.024000	0.39682	0.404000	0.27445	CGG		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18533573	G	A	18533573	3	1	34	1	0	0	0	0	1	0	0	0	13517	1115	39	2	45	2	ROCK1	18	18533573	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	15466040	18533573	59543675	78	2132											
DSC3	1825	broad.mit.edu	37	chr18	28598687	28598687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgttactgttatgataCaagttgatgtgcctatcaat	12	16	7	6	0	2	2	1	2	1	0	2	2	2	2	1	0	3	3	1	0	7	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:28598687C>A	ENST00000360428.4	-	8	1102	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	DSC3_ENST00000434452.1_Missense_Mutation_p.C341F	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	341	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTATGATACAAGTTGATGT	0.338																																						uc002kwj.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1021-1023)tGt>tTt		Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.							178	166	170					18																	28598687		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598687C>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1022G>T	18.37:g.28598687C>A	ENSP00000353608:p.Cys341Phe					DSC3_uc002kwi.4_Missense_Mutation_p.C341F	p.C341F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	1177	-			341			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1022G>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697077	0.68386	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.51071	0.72;0.72	5.25	5.25	0.73442	Cadherin (5);Cadherin-like (1);	0.587358	0.13399	N	0.390818	T	0.57917	0.2086	L	0.58583	1.82	0.35203	D	0.774475	B;P	0.48911	0.33;0.917	B;P	0.53593	0.319;0.73	T	0.66027	-0.6025	10	0.62326	D	0.03	.	12.4034	0.55426	0.0:0.7837:0.2162:0.0	.	341;341	Q14574;Q14574-2	DSC3_HUMAN;.	F	341	ENSP00000353608:C341F;ENSP00000392068:C341F	ENSP00000353608:C341F	C	-	2	0	DSC3	26852685	0.978000	0.34361	0.981000	0.43875	0.931000	0.56810	1.900000	0.39828	2.739000	0.93911	0.579000	0.79373	TGT		0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		A	28598687	C	A	28598687	3	1	34	1	0	0	0	0	1	0	0	0	4767	478	17	5	1735	5	DSC3	18	28598687	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	10065114	28598687	49478561	79	2133											
KIAA1632	57724	broad.mit.edu	37	chr18	43493732	43493732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccccttcaataactctcCggagctgggagtcctcttca	8	12	7	14	1	4	0	2	0	2	0	7	2	6	2	4	2	2	1	4	2	2	4	rs186446511	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:43493732C>T	ENST00000282041.5	-	21	3789	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1252					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AATAACTCTCCGGAGCTGGGA	0.488													C|||	2	0.000399361	0	0	5008	,	,		17760	0.001		0	False		,,,				2504	0.001					uc002lbm.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3754-3756)cGg>cAg		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							91	91	91					18																	43493732		1886	4107	5993	SO:0001583	missense	57724				autophagy			g.chr18:43493732C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3755G>A	18.37:g.43493732C>T	ENSP00000282041:p.Arg1252Gln					EPG5_uc002lbo.1_Missense_Mutation_p.R1252Q|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Missense_Mutation_p.R127Q	p.R1252Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			20	3855	-			1252					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3755G>A	CCDS11926.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.68	3.872027	0.72180	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11495	2.77	5.34	5.34	0.76211	.	0.373285	0.27896	N	0.017405	T	0.31231	0.0790	M	0.63843	1.955	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01156	-1.1434	10	0.23891	T	0.37	-9.2966	19.0507	0.93043	0.0:1.0:0.0:0.0	.	1252;1252	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Q	1252;127	ENSP00000282041:R1252Q	ENSP00000282041:R1252Q	R	-	2	0	EPG5	41747730	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.541000	0.60670	2.506000	0.84524	0.591000	0.81541	CGG		0.488	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		T	43493732	C	T	43493732	3	4	34	1	0	0	0	0	1	0	0	0	8249	652	23	2	4080	2	KIAA1632	18	43493732	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	14895045	43493732	34583516	80	2134											
NETO1	81832	broad.mit.edu	37	chr18	70417298	70417298	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctattgatactgaccGctggacggctttatcgtgtc	10	13	9	9	3	1	2	0	2	1	0	3	3	1	3	1	2	1	2	1	2	5	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:70417298G>A	ENST00000327305.6	-	9	2197	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	NETO1_ENST00000299430.2_Splice_Site_p.R513W|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Splice_Site_p.R514W	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	514					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATACTGACCGCTGGACGGCT	0.433																																						uc002lkw.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.e9+1		Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.							79	69	72					18																	70417298		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417298G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1541+1C>T	18.37:g.70417298G>A						NETO1_uc002lky.2_Splice_Site_p.R514_splice	p.R514_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1825	-		Esophageal squamous(42;0.129)	514					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1541_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049745	0.93740	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.33438	1.41;1.41	5.76	5.76	0.90799	.	0.000000	0.52532	D	0.000079	T	0.54498	0.1862	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.53187	-0.8474	10	0.87932	D	0	-8.9025	19.973	0.97292	0.0:0.0:1.0:0.0	.	513;514	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	W	514;513	ENSP00000313088:R514W;ENSP00000299430:R513W	ENSP00000299430:R513W	R	-	1	2	NETO1	68568278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.429000	0.97481	2.725000	0.93324	0.460000	0.39030	CGG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Missense_Mutation	A	70417298	G	A	70417298	5	1	34	1	0	0	0	0	0	0	1	0	10339	1101	38	1	69	1	NETO1	18	70417298	Splice_Site	SNP	G	TCGA-06-0173-01A-01D-1491-08	26923566	70417298	7659950	81	2135											
CHAF1A	10036	broad.mit.edu	37	chr19	4433232	4433232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccacccccagcgaggatgCcgccatcccctctaagtccc	7	5	7	22	2	1	0	0	0	1	0	3	2	3	1	9	1	2	0	9	1	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:4433232C>T	ENST00000301280.5	+	13	2470	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	790	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGAGGATGCCGCCATCCCC	0.652								Chromatin Structure																														uc002mal.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2368-2370)gCc>gTc	Chromatin Structure	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.							70	72	71					19																	4433232		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433232C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2369C>T	19.37:g.4433232C>T	ENSP00000301280:p.Ala790Val						p.A790V	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2469	+		Hepatocellular(1079;0.137)	790			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2369C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633773	0.03584	.	.	ENSG00000167670	ENST00000301280	T	0.23147	1.92	5.65	-1.57	0.08506	.	.	.	.	.	T	0.05823	0.0152	N	0.01048	-1.04	0.09310	N	1	B	0.16802	0.019	B	0.12837	0.008	T	0.37934	-0.9684	8	.	.	.	-0.3293	1.4254	0.02322	0.1195:0.2737:0.2588:0.348	.	790	Q13111	CAF1A_HUMAN	V	790	ENSP00000301280:A790V	.	A	+	2	0	CHAF1A	4384232	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.071000	0.14594	0.037000	0.15575	-0.165000	0.13383	GCC		0.652	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4433232	C	T	4433232	3	4	34	1	0	0	0	0	1	0	0	0	3311	739	26	3	2419	3	CHAF1A	19	4433232	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		4433232	54695751	82	2136											
MUC16	94025	broad.mit.edu	37	chr19	9069201	9069201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcaccagggcggtgCtgtcctctttcagttcagga	7	12	11	11	1	5	0	4	0	1	0	6	1	6	1	2	3	1	3	2	3	0	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:9069201C>T	ENST00000397910.4	-	3	18448	c.18245G>A	c.(18244-18246)aGc>aAc	p.S6082N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6084	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGCGGTGCTGTCCTCTTT	0.498																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18244-18246)aGc>aAc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							80	88	86					19																	9069201		2135	4248	6383	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069201C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18245G>A	19.37:g.9069201C>T	ENSP00000381008:p.Ser6082Asn						p.S6082N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	18449	-			6084			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18245G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.728	-0.264958	0.05754	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.11	-0.0788	0.13713	.	.	.	.	.	T	0.04092	0.0114	L	0.33485	1.01	.	.	.	D	0.55172	0.97	P	0.52343	0.696	T	0.39375	-0.9617	8	0.87932	D	0	.	4.3367	0.11090	0.3878:0.6122:0.0:0.0	.	6082	B5ME49	.	N	6082	ENSP00000381008:S6082N	ENSP00000381008:S6082N	S	-	2	0	MUC16	8930201	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	0.422000	0.21296	0.028000	0.15324	0.163000	0.16589	AGC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9069201	C	T	9069201	3	4	34	1	0	0	0	0	1	0	0	0	9973	797	28	3	25606	3	MUC16	19	9069201	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	4635969	9069201	50059782	83	2137											
CALR	811	broad.mit.edu	37	chr19	13051173	13051173	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgattgggacttcctGccacccaagaagataaagga	15	6	11	9	1	0	3	0	0	0	3	1	7	1	5	3	2	1	0	3	2	5	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13051173G>T	ENST00000316448.5	+	5	682	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	203	4 X approximate repeats.|P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGGACTTCCTGCCACCCAAGA	0.532																																						uc002mvu.2																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(607-609)ctG>ctT		Homo sapiens calreticulin (CALR), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						79	85	83					19																	13051173		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051173G>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.609G>T	19.37:g.13051173G>T							p.L203L	NM_004343	NP_004334	P27797	CALR_HUMAN			4	689	+			203			4 X approximate repeats.|P-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.609G>T	CCDS12288.1																																																																																				0.532	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		T	13051173	G	T	13051173	2	4	34	1	0	0	0	0	0	0	0	1	2592	1306	46	5		5	CALR	19	13051173	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	3981972	13051173	46077810	84	2138											
CACNA1A	773	broad.mit.edu	37	chr19	13340971	13340971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccaggatggaggagtctCgggtgaggtactcaaagttg	9	8	17	7	1	2	1	1	1	1	0	3	4	2	4	1	6	1	2	1	6	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13340971C>T	ENST00000360228.5	-	36	5452	c.5453G>A	c.(5452-5454)cGa>cAa	p.R1818Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1819Q|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1819					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGGAGTCTCGGGTGAGGTA	0.597																																						uc002mwy.3																			0		p.L1817V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5452-5454)cGa>cAa		Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						79	90	86					19																	13340971		2098	4250	6348	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13340971C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5453G>A	19.37:g.13340971C>T	ENSP00000353362:p.Arg1818Gln					CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc010xnd.2_Missense_Mutation_p.R1821Q|CACNA1A_uc021ups.1_Missense_Mutation_p.R1818Q|CACNA1A_uc010xne.2_Missense_Mutation_p.R1821Q|CACNA1A_uc010dze.2_Missense_Mutation_p.R1818Q|CACNA1A_uc021upt.1_Missense_Mutation_p.R1819Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	p.R1818Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		35	5689	-			1819					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5453G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258173	0.80246	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96136	-3.92	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000008	D	0.98021	0.9348	M	0.90922	3.16	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.997;0.998	D;D;D;D	0.73380	0.941;0.98;0.968;0.956	D	0.99312	1.0904	10	0.87932	D	0	.	15.5941	0.76566	0.0:1.0:0.0:0.0	.	1819;1824;1818;1819	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	Q	1818;1824;1819;1819	ENSP00000353362:R1818Q	ENSP00000317661:R1819Q	R	-	2	0	CACNA1A	13201971	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.736000	0.84948	1.968000	0.57251	0.549000	0.68633	CGA		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13340971	C	T	13340971	3	4	34	1	0	0	0	0	1	0	0	0	2538	884	31	2	2216	2	CACNA1A	19	13340971	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	289798	13340971	45788012	85	2139											
ZNF681	148213	broad.mit.edu	37	chr19	23927348	23927348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatttgtagggtttcTctccagtatgaattatctta	9	18	6	8	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	5	7			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:23927348T>C	ENST00000402377.3	-	4	1145	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	ZNF681_ENST00000395385.3_Missense_Mutation_p.E266G	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTAGGGTTTCTCTCCAGTATG	0.393																																						uc002nrk.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1003-1005)gAg>gGg		Homo sapiens zinc finger protein 681 (ZNF681), mRNA.							86	89	88					19																	23927348		2203	4298	6501	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927348T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1004A>G	19.37:g.23927348T>C	ENSP00000384000:p.Glu335Gly					ZNF681_uc002nrl.4_Missense_Mutation_p.E266G|ZNF681_uc002nrj.4_Missense_Mutation_p.E266G	p.E335G	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			3	1146	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	335					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1004A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	14.74	2.625218	0.46840	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.27557	1.66;1.66	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52773	0.1755	M	0.85630	2.765	0.33734	D	0.618595	D	0.89917	1.0	D	0.83275	0.996	T	0.62238	-0.6896	9	0.72032	D	0.01	.	6.0099	0.19569	0.0:0.0:0.0:1.0	.	335	Q96N22	ZN681_HUMAN	G	335;266	ENSP00000384000:E335G;ENSP00000378783:E266G	ENSP00000378783:E266G	E	-	2	0	ZNF681	23719188	0.961000	0.32948	0.046000	0.18839	0.016000	0.09150	2.739000	0.47409	0.663000	0.31027	0.260000	0.18958	GAG		0.393	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		C	23927348	T	C	23927348	3	2	34	1	0	0	0	0	1	0	0	0	18085	1551	54	4	937	4	ZNF681	19	23927348	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	10586377	23927348	35201635	86	2140											
CAPNS1	826	broad.mit.edu	37	chr19	36633602	36633602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccaacgagagtgaggagGtccggcagttccggagactc	10	5	16	10	3	0	3	0	1	0	2	3	6	2	4	3	5	1	2	3	5	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:36633602G>T	ENST00000246533.3	+	4	890	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CAPNS1_ENST00000587718.1_Missense_Mutation_p.V98F|CAPNS1_ENST00000590874.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.V98F|CAPNS1_ENST00000588815.1_Missense_Mutation_p.V98F|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	98	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGTGAGGAGGTCCGGCAGTT	0.622																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	uc002odi.1																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(292-294)Gtc>Ttc		Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.							132	138	136					19																	36633602		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633602G>T	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.292G>T	19.37:g.36633602G>T	ENSP00000246533:p.Val98Phe					CAPNS1_uc002odk.3_Missense_Mutation_p.V98F|CAPNS1_uc002odj.3_Missense_Mutation_p.V98F|CAPNS1_uc002odl.3_Missense_Mutation_p.V98F	p.V98F	NM_001749	NP_001740	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	449	+	Esophageal squamous(110;0.162)		98			EF-hand 1; atypical.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.292G>T	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	19.80	3.894146	0.72639	.	.	ENSG00000126247	ENST00000246533	T	0.43294	0.95	4.73	3.7	0.42460	EF-hand-like domain (1);	0.426406	0.21901	N	0.067445	T	0.44095	0.1277	L	0.39020	1.185	0.80722	D	1	D	0.61080	0.989	P	0.56788	0.806	T	0.38045	-0.9679	10	0.62326	D	0.03	.	7.3452	0.26660	0.1933:0.0:0.8067:0.0	.	98	P04632	CPNS1_HUMAN	F	98	ENSP00000246533:V98F	ENSP00000246533:V98F	V	+	1	0	CAPNS1	41325442	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	3.861000	0.56002	1.340000	0.45581	0.655000	0.94253	GTC		0.622	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			T	36633602	G	T	36633602	3	4	34	1	0	0	0	0	1	0	0	0	2633	1261	44	5	302	5	CAPNS1	19	36633602	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	12706254	36633602	22495381	87	2141											
CEACAM4	1089	broad.mit.edu	37	chr19	42132051	42132051	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagggtgtaggatcctgcGtcctccagggtgatgttttg	5	13	15	8	2	0	1	0	1	0	0	3	2	3	2	3	3	1	3	3	3	2	4	rs199959927		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:42132051G>A	ENST00000221954.2	-	2	458	c.348C>T	c.(346-348)gaC>gaT	p.D116D	CEACAM4_ENST00000600925.1_Silent_p.D116D	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	116	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGATCCTGCGTCCTCCAGGG	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		16611	0		0	False		,,,				2504	0					uc010xwd.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(346-348)gaC>gaT		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.							197	170	179					19																	42132051		2203	4300	6503	SO:0001819	synonymous_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42132051G>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.348C>T	19.37:g.42132051G>A						CEACAM4_uc002orh.1_Silent_p.D116D	p.D116D	NM_001817	NP_001808	O75871	CEAM4_HUMAN			1	459	-			116			Ig-like V-type.		Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	c.348C>T	CCDS33033.1																																																																																				0.522	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		A	42132051	G	A	42132051	2	1	34	1	0	0	0	0	0	0	0	1	3194	1136	40	1		1	CEACAM4	19	42132051	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	5498449	42132051	16996932	88	2142											
ZNF229	7772	broad.mit.edu	37	chr19	44933285	44933285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatggatgtggaggtcGgagctccggccaaagctctt	7	10	14	10	2	2	1	0	1	2	0	4	4	3	4	2	5	2	2	2	5	1	1	rs371132127		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:44933285G>A	ENST00000588931.1	-	6	2104	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	ZNF229_ENST00000291187.4_Silent_p.S551S|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542																																						uc002oze.1																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1669-1671)tcC>tcT		Homo sapiens zinc finger protein 229 (ZNF229), mRNA.		G		0,4372		0,0,2186	67	73	71		1671	-7	0	19		71	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	ZNF229	NM_014518.2		0,1,6481	AA,AG,GG		0.0116,0.0,0.0077		557/826	44933285	1,12963	2186	4296	6482	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933285G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1671C>T	19.37:g.44933285G>A						ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	p.S557S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	2105	-		Prostate(69;0.0352)	557					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1671C>T	CCDS42574.1																																																																																				0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		A	44933285	G	A	44933285	2	1	34	1	0	0	0	0	0	0	0	1	17779	1103	39	2		2	ZNF229	19	44933285	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	2801234	44933285	14195698	89	2143											
CEACAM20	125931	broad.mit.edu	37	chr19	45021184	45021184	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcacctggcttggactCggcccaacactgcagggtca	8	7	11	15	1	2	0	2	0	0	0	3	1	2	1	2	4	3	3	2	4	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:45021184C>T	ENST00000454753.1	-	0	1410							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTTGGACTCGGCCCAACAC	0.582																																						uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(1132-1134)Gag>Aag		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							66	66	66					19																	45021184		2082	4224	6306			125931					integral to membrane		g.chr19:45021184C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45021184C>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.E378K|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	p.E378K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			5	1148	-		Prostate(69;0.0352)	378			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000454753.1	37	c.1132G>A																																																																																					0.582	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		T	45021184	C	T	45021184	1	4	34	0	1	0	0	0	0	0	0	0	3191	893	31	2		2	CEACAM20	19	45021184	RNA	SNP	C	TCGA-06-0173-01A-01D-1491-08	87899	45021184	14107799	90	2144											
LILRB5	10990	broad.mit.edu	37	chr19	54756388	54756388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggctctggccccgcaGcccctgcaggacggtagaaa	7	6	13	15	2	1	1	0	0	1	1	1	2	1	2	5	4	2	4	5	4	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54756388G>T	ENST00000316219.5	-	10	1603	c.1496C>A	c.(1495-1497)gCt>gAt	p.A499D	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Missense_Mutation_p.A500D|LILRB5_ENST00000345866.6_Missense_Mutation_p.A400D|LILRB5_ENST00000450632.1_Missense_Mutation_p.A491D	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	499					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A499V(1)|p.A491V(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCGCAGCCCCTGCAGG	0.607																																						uc010yer.1																			2	Substitution - Missense(2)	p.A499V(1)|p.A491V(1)|p.S490T(1)	endometrium(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1471-1473)gCt>gAt		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.							91	88	89					19																	54756388		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756388G>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1496C>A	19.37:g.54756388G>T	ENSP00000320390:p.Ala499Asp					LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.A500D|LILRB5_uc002qez.3_Missense_Mutation_p.A400D|LILRB5_uc002qex.3_Missense_Mutation_p.A499D|LILRB5_uc002qfa.1_3'UTR	p.A491D			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1583	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		499					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1472C>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038218	0.35989	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00497	7.06;6.98;7.05;7.03	1.91	0.799	0.18667	.	.	.	.	.	T	0.00875	0.0029	M	0.81942	2.565	0.09310	N	1	D;P;B;P	0.53619	0.961;0.739;0.001;0.583	P;B;B;B	0.49637	0.617;0.305;0.002;0.157	T	0.47799	-0.9089	9	0.87932	D	0	.	5.4444	0.16527	0.0:0.0:0.6687:0.3313	.	491;400;500;499	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	D	499;491;500;400	ENSP00000320390:A499D;ENSP00000414225:A491D;ENSP00000406478:A500D;ENSP00000263430:A400D	ENSP00000320390:A499D	A	-	2	0	LILRB5	59448200	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	-0.142000	0.10311	0.321000	0.23259	0.460000	0.39030	GCT		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54756388	G	T	54756388	3	4	34	1	0	0	0	0	1	0	0	0	8794	971	34	5	292	5	LILRB5	19	54756388	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	9735204	54756388	4372595	91	2145											
LENG8	114823	broad.mit.edu	37	chr19	54967619	54967619	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccatatggatcggggcCgaggcagggcgcagcgtggg	6	4	21	10	4	0	0	0	0	0	0	1	2	0	1	2	7	1	2	2	7	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54967619C>A	ENST00000326764.5	+	10	1899	c.1420C>A	c.(1420-1422)Cga>Aga	p.R474R	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	437										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGATCGGGGCCGAGGCAGGGC	0.682																																						uc002qfv.1																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1309-1311)Cga>Aga		Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.							26	32	30					19																	54967619		2201	4299	6500	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54967619C>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1420C>A	19.37:g.54967619C>A						LENG8_uc002qfw.2_Silent_p.R474R	p.R437R			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	8	1453	+	Ovarian(34;0.19)		437					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1309C>A	CCDS12894.1																																																																																				0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		A	54967619	C	A	54967619	2	1	34	1	0	0	0	0	0	0	0	1	8724	644	23	5		5	LENG8	19	54967619	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	211231	54967619	4161364	92	2146											
LILRB1	10859	broad.mit.edu	37	chr19	55146733	55146733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagctgccgatgcccAggaagaaaacctctgtgagt	11	6	11	13	1	1	2	0	1	1	1	1	4	1	3	4	1	5	1	4	1	3	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:55146733A>G	ENST00000396331.1	+	13	1940	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	LILRB1_ENST00000418536.2_Missense_Mutation_p.Q512R|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q578R|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q529R|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q512R|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q529R|LILRB1_ENST00000448689.1_Missense_Mutation_p.R503G|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q529R|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q528R|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q528R|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q528R|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	528					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCGATGCCCAGGAAGAAAAC	0.612										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1582-1584)cAg>cGg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							64	71	69					19																	55146733		2203	4299	6502	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146733A>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1583A>G	19.37:g.55146733A>G	ENSP00000379622:p.Gln528Arg	HNSCC(37;0.09)				LILRB1_uc010erp.1_Missense_Mutation_p.Q143R|LILRB1_uc002qgl.3_Missense_Mutation_p.Q528R|LILRB1_uc002qgk.3_Missense_Mutation_p.Q529R|LILRB1_uc002qgm.3_Missense_Mutation_p.Q529R|LILRB1_uc010erq.3_Missense_Mutation_p.Q512R|LILRB1_uc010err.3_Non-coding_Transcript	p.Q528R	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	12	1923	+			528					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1583A>G	CCDS42617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.618|8.618	0.890760|0.890760	0.17613|0.17613	.|.	.|.	ENSG00000104972|ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315|ENST00000448689	T;T;T;T;T;T;T;T;T;T|T	0.00515|0.00538	7.03;6.91;7.03;6.97;6.91;7.03;7.03;6.87;6.91;6.91|6.71	1.35|1.35	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|T	0.00906|0.00906	0.0030|0.0030	M|M	0.77313|0.77313	2.365|2.365	0.09310|0.09310	N|N	1|1	B;B;P;B;D;P|.	0.55800|.	0.024;0.01;0.911;0.382;0.973;0.856|.	B;B;P;B;P;B|.	0.51385|.	0.017;0.005;0.549;0.133;0.668;0.347|.	T|T	0.39800|0.39800	-0.9596|-0.9596	9|7	0.72032|0.27082	D|T	0.01|0.32	.|.	4.8162|4.8162	0.13367|0.13367	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	512;528;529;528;529;528|.	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6|.	.;.;.;.;.;LIRB1_HUMAN|.	R|G	528;512;528;529;529;528;528;578;512;529|503	ENSP00000379614:Q528R;ENSP00000391514:Q512R;ENSP00000379622:Q528R;ENSP00000379618:Q529R;ENSP00000315997:Q529R;ENSP00000405243:Q528R;ENSP00000379623:Q528R;ENSP00000395004:Q578R;ENSP00000379610:Q512R;ENSP00000379608:Q529R|ENSP00000409968:R503G	ENSP00000315997:Q529R|ENSP00000410165:R503G	Q|R	+|+	2|1	0|2	LILRB1|LILRB1	59838545|59838545	0.274000|0.274000	0.24191|0.24191	0.029000|0.029000	0.17559|0.17559	0.058000|0.058000	0.15608|0.15608	0.279000|0.279000	0.18771|0.18771	0.864000|0.864000	0.35578|0.35578	0.172000|0.172000	0.16884|0.16884	CAG|AGG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			G	55146733	A	G	55146733	3	3	34	1	0	0	0	0	1	0	0	0	8790	188	7	4	1628	4	LILRB1	19	55146733	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	179114	55146733	3982250	93	2147											
GALP	85569	broad.mit.edu	37	chr19	56691958	56691958	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctctatccagggaCgaggaggctggaccctcaat	9	9	11	12	1	3	0	1	0	2	0	5	4	4	3	2	4	1	2	2	4	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:56691958C>T	ENST00000357330.2	+	3	173	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GALP_ENST00000590002.1_Intron|GALP_ENST00000440823.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	31					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TATCCAGGGACGAGGAGGCTG	0.602																																						uc002qmo.1																			0				lung(4)	4						c.(91-93)Cga>Tga		Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.							119	94	103					19																	56691958		2203	4300	6503	SO:0001587	stop_gained	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56691958C>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"Endogenous ligands"	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.91C>T	19.37:g.56691958C>T	ENSP00000349884:p.Arg31*					GALP_uc010eti.2_Intron	p.R31*	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	2	173	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	31					A1KXL3	Nonsense_Mutation	SNP	ENST00000357330.2	37	c.91C>T	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365630	0.61513	.	.	ENSG00000197487	ENST00000357330	.	.	.	2.08	0.975	0.19721	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5434	5.6837	0.17790	0.3208:0.6792:0.0:0.0	.	.	.	.	X	31	.	ENSP00000349884:R31X	R	+	1	2	GALP	61383770	0.988000	0.35896	0.060000	0.19600	0.299000	0.27559	1.335000	0.33839	0.406000	0.25560	0.585000	0.79938	CGA		0.602	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		T	56691958	C	T	56691958	4	4	34	1	0	0	0	0	0	1	0	0	6226	528	19	1	97	1	GALP	19	56691958	Nonsense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	1545225	56691958	2437025	94	2148											
SDC4	6385	broad.mit.edu	37	chr20	43977015	43977016	+	Frame_Shift_Ins	INS	-	-	G																															agcagcgcgaacagacgggcINSgggggccatggcaccgcgga																								rs532007204	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:43977015_43977016insG	ENST00000372733.3	-	1	48_49	c.9_10insC	c.(7-12)cccgccfs	p.A4fs	SDC4_ENST00000537976.1_5'UTR	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	4					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AACAGACGGGCGGGGGCCATGG	0.752			T	ROS1	NSCLC																																	uc002xnu.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(7-12)cccgccfs		Homo sapiens syndecan 4 (SDC4), mRNA.																																				SO:0001589	frameshift_variant	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43977015_43977016insG	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.10dupC	20.37:g.43977020_43977020dupG	ENSP00000361818:p.Ala4fs					SDC4_uc010zws.2_5'UTR	p.P3fs	NM_002999	NP_002990	P31431	SDC4_HUMAN			0	49_50	-		Myeloproliferative disorder(115;0.0122)	3					O00773|Q16833|Q53FN9|Q6FGN3	Frame_Shift_Ins	INS	ENST00000372733.3	37	c.9_10insC	CCDS13350.1																																																																																				0.752	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		G	43977016	-	G	43977015	7	5	34	1	0	1	1	0	0	0	0	0	13954	768	27	0	606	0	SDC4	20	43977015	Frame_Shift_Ins	INS	-	TCGA-06-0173-01A-01D-1491-08		43977015	19048505	95	2149											
PARD6B	84612	broad.mit.edu	37	chr20	49366649	49366649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcataacagtgagacCggcaaaccagaggaataatg	16	6	9	10	1	2	2	2	1	0	2	2	4	2	3	3	2	2	1	3	2	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:49366649C>T	ENST00000371610.2	+	3	986	c.743C>T	c.(742-744)cCg>cTg	p.P248L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	248	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACAGTGAGACCGGCAAACCAG	0.443																																						uc002xvo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(742-744)cCg>cTg		Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.							129	124	125					20																	49366649		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366649C>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.743C>T	20.37:g.49366649C>T	ENSP00000360672:p.Pro248Leu						p.P248L	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			2	986	+			248			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.743C>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068220	0.93950	.	.	ENSG00000124171	ENST00000371610	T	0.20200	2.09	6.02	6.02	0.97574	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71354	-0.4618	10	0.87932	D	0	-22.0075	20.5407	0.99260	0.0:1.0:0.0:0.0	.	248	Q9BYG5	PAR6B_HUMAN	L	248	ENSP00000360672:P248L	ENSP00000360672:P248L	P	+	2	0	PARD6B	48800056	1.000000	0.71417	0.226000	0.23910	0.962000	0.63368	7.416000	0.80143	2.865000	0.98341	0.655000	0.94253	CCG		0.443	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		T	49366649	C	T	49366649	3	4	34	1	0	0	0	0	1	0	0	0	11446	652	23	2	753	2	PARD6B	20	49366649	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	5389634	49366649	13658871	96	2150											
RTEL1	51750	broad.mit.edu	37	chr20	62316891	62316891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcagattgtgttcagtgtgGacccctccgagggcagccct	6	11	12	12	1	2	1	2	0	0	1	3	3	3	2	4	2	1	2	4	2	0	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:62316891G>A	ENST00000360203.5	+	15	1532	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.D403N|RTEL1_ENST00000508582.2_Missense_Mutation_p.D427N|RTEL1_ENST00000370018.3_Missense_Mutation_p.D403N|RTEL1_ENST00000318100.4_Missense_Mutation_p.D403N					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTTCAGTGTGGACCCCTCCGA	0.627																																						uc021wge.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1207-1209)Gac>Aac		Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.							41	44	43					20																	62316891		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62316891G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1207G>A	20.37:g.62316891G>A	ENSP00000353332:p.Asp403Asn					RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.D403N|RTEL1_uc011abd.2_Missense_Mutation_p.D427N|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.D180N	p.D403N	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		13	1377	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		403						Missense_Mutation	SNP	ENST00000360203.5	37	c.1207G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885372	0.33255	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	D;D;D;D	0.82255	-1.56;-1.59;-1.52;-1.57	4.43	4.43	0.53597	.	0.302324	0.35207	N	0.003378	D	0.87370	0.6160	L	0.61036	1.89	0.09310	N	1	P;B;B	0.52170	0.951;0.049;0.082	P;B;B	0.56612	0.802;0.028;0.059	T	0.80843	-0.1201	10	0.40728	T	0.16	-14.9662	16.6393	0.85068	0.0:0.0:1.0:0.0	.	427;403;403	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	N	403;403;427;403	ENSP00000359035:D403N;ENSP00000322287:D403N;ENSP00000424307:D427N;ENSP00000353332:D403N	ENSP00000353332:D403N	D	+	1	0	AL353715.1	61787335	0.563000	0.26594	0.062000	0.19696	0.039000	0.13416	2.793000	0.47845	2.017000	0.59298	0.491000	0.48974	GAC		0.627	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		A	62316891	G	A	62316891	3	1	34	1	0	0	0	0	1	0	0	0	13720	1174	41	3	1261	3	RTEL1	20	62316891	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	12950242	62316891	708629	97	2151											
TXNRD2	10587	broad.mit.edu	37	chr22	19870868	19870868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccacgtcaccaatggCgtagatgtggggcacagagg	10	6	13	12	2	1	2	1	0	0	2	2	2	2	2	3	4	0	2	3	4	2	1	rs576244023	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr22:19870868C>T	ENST00000400521.1	-	12	1072	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	TXNRD2_ENST00000400518.1_Missense_Mutation_p.A326T|TXNRD2_ENST00000535882.1_Missense_Mutation_p.A355T|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A326T|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A355T	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	356					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACCAATGGCGTAGATGTGG	0.647													C|||	4	0.000798722	0	0	5008	,	,		16868	0		0	False		,,,				2504	0.0041					uc021wlj.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1066-1068)Gcc>Acc		Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.							92	105	101					22																	19870868		2066	4206	6272	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19870868C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1066G>A	22.37:g.19870868C>T	ENSP00000383365:p.Ala356Thr					TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	p.A356T	NM_006440		Q9NNW7	TRXR2_HUMAN			11	1099	-	Colorectal(54;0.0993)		356					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1066G>A	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288432	0.80803	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.07	5.07	0.68467	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.058133	0.64402	D	0.000002	D	0.87625	0.6224	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.62885	0.908;0.908	D	0.93015	0.6435	10	0.72032	D	0.01	-21.6263	18.8357	0.92162	0.0:1.0:0.0:0.0	.	356;355	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	T	326;356;356;333;260;355;355;326	ENSP00000383362:A326T;ENSP00000383365:A356T;ENSP00000383369:A333T;ENSP00000383363:A355T;ENSP00000439314:A355T;ENSP00000439570:A326T	ENSP00000383362:A326T	A	-	1	0	TXNRD2	18250868	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	6.791000	0.75120	2.515000	0.84797	0.563000	0.77884	GCC		0.647	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		T	19870868	C	T	19870868	3	4	34	1	0	0	0	0	1	0	0	0	16805	768	27	1	532	1	TXNRD2	22	19870868	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		19870868	31433698	98	2152											
NDUFB11	54539	broad.mit.edu	37	chrX	47001797	47001797	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccattggcctctcggtaTttcacaagcctctcagcttc	7	12	8	14	1	3	0	2	0	2	0	6	0	3	0	3	3	2	2	3	3	2	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:47001797T>C	ENST00000377811.3	-	3	1205	c.381A>G	c.(379-381)aaA>aaG	p.K127K	RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000329236.7_5'Flank|NDUFB11_ENST00000276062.8_Silent_p.K137K|RBM10_ENST00000377604.3_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	127					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTCTCGGTATTTCACAAGCC	0.552																																					Ovarian(77;454 1296 7908 21551 37072)	uc004dhc.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(409-411)aaA>aaG		Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							100	72	81					X																	47001797		2203	4300	6503	SO:0001819	synonymous_variant	54539				respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		g.chrX:47001797T>C	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"Mitochondrial respiratory chain complex / Complex I"	20372	protein-coding gene	gene with protein product	"complex I NP17.3 subunit"	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.381A>G	X.37:g.47001797T>C						NDUFB11_uc004dhd.3_Silent_p.K127K|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	p.K137K	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN			2	942	-			127					Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Silent	SNP	ENST00000377811.3	37	c.411A>G	CCDS48100.1																																																																																				0.552	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056		C	47001797	T	C	47001797	2	2	34	1	0	0	0	0	0	0	0	1	10280	1490	52	4		4	NDUFB11	23	47001797	Silent	SNP	T	TCGA-06-0173-01A-01D-1491-08		47001797	108268763	99	2153											
GATA1	2623	broad.mit.edu	37	chrX	48652346	48652346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctttatggtggtggctggGggcagcggtagcgggaattg	5	10	21	5	2	0	0	0	0	0	0	0	1	0	1	0	8	2	4	0	8	3	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:48652346G>A	ENST00000376670.3	+	6	1128	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	339					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGGTGGCTGGGGGCAGCGGTA	0.627			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.4				Dom	yes		X	Xp11.23	2623	"Mis, F"	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(1015-1017)ggG>ggA		Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.							35	32	33					X																	48652346		2203	4297	6500	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652346G>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1017G>A	X.37:g.48652346G>A							p.G339G	NM_002049	NP_002040	P15976	GATA1_HUMAN			5	1108	+			339					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.1017G>A	CCDS14305.1																																																																																				0.627	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		A	48652346	G	A	48652346	2	1	34	1	0	0	0	0	0	0	0	1	6253	1219	43	3		3	GATA1	23	48652346	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	1650549	48652346	106618214	100	2154											
YIPF6	286451	broad.mit.edu	37	chrX	67742719	67742719	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtaaacttcatggttcgGctttttgtggtgattgtgat	6	18	11	6	1	1	2	1	2	0	0	2	2	1	2	1	3	1	3	1	3	2	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:67742719G>T	ENST00000462683.1	+	6	1296	c.552G>T	c.(550-552)cgG>cgT	p.R184R	YIPF6_ENST00000374622.2_Silent_p.R141R	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	184					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						TCATGGTTCGGCTTTTTGTGG	0.408																																						uc004dwz.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(550-552)cgG>cgT		Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.							245	173	197					X																	67742719		2203	4300	6503	SO:0001819	synonymous_variant	286451					endoplasmic reticulum|integral to membrane		g.chrX:67742719G>T	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.552G>T	X.37:g.67742719G>T						YIPF6_uc011mph.2_Silent_p.R141R	p.R184R	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			5	837	+			184					B4E1U7|G5E997|Q5JP08	Silent	SNP	ENST00000462683.1	37	c.552G>T	CCDS14389.1																																																																																				0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		T	67742719	G	T	67742719	2	4	34	1	0	0	0	0	0	0	0	1	17479	1190	42	5		5	YIPF6	23	67742719	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	19090373	67742719	87527841	101	2155											
CDX4	1046	broad.mit.edu	37	chrX	72667262	72667262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactatatggggtatcctcAtatgcccagcatggatcctc	9	11	9	12	0	1	0	1	0	0	0	4	1	3	1	3	3	2	3	3	3	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:72667262A>G	ENST00000373514.2	+	1	173	c.173A>G	c.(172-174)cAt>cGt	p.H58R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	58					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGGTATCCTCATATGCCCAGC	0.632																																						uc011mqk.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(172-174)cAt>cGt		Homo sapiens caudal type homeobox 4 (CDX4), mRNA.							51	43	46					X																	72667262		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667262A>G	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.173A>G	X.37:g.72667262A>G	ENSP00000362613:p.His58Arg						p.H58R	NM_005193	NP_005184	O14627	CDX4_HUMAN			0	173	+	Renal(35;0.156)		58					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.173A>G	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778842	0.31502	.	.	ENSG00000131264	ENST00000373514	T	0.50277	0.75	2.57	2.57	0.30868	Caudal-like activation domain (1);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.83118	2.625	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	T	0.64462	-0.6402	10	0.38643	T	0.18	-10.0391	8.1658	0.31226	1.0:0.0:0.0:0.0	.	58	O14627	CDX4_HUMAN	R	58	ENSP00000362613:H58R	ENSP00000362613:H58R	H	+	2	0	CDX4	72583987	1.000000	0.71417	0.515000	0.27774	0.081000	0.17604	3.327000	0.52045	1.263000	0.44181	0.356000	0.21956	CAT		0.632	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		G	72667262	A	G	72667262	3	3	34	1	0	0	0	0	1	0	0	0	3184	217	8	4	175	4	CDX4	23	72667262	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	4924543	72667262	82603298	102	2156											
CPXCR1	53336	broad.mit.edu	37	chrX	88009244	88009244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataatggttggaaatacTtttgtcccatctgtggaagg	11	13	10	7	0	1	0	0	0	1	0	2	2	2	2	2	4	1	1	2	4	5	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:88009244T>C	ENST00000276127.4	+	3	1088	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F277L	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	277							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTGGAAATACTTTTGTCCCAT	0.299																																						uc022bzq.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(829-831)Ttt>Ctt		Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.							42	41	41					X																	88009244		2200	4296	6496	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009244T>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.829T>C	X.37:g.88009244T>C	ENSP00000276127:p.Phe277Leu					CPXCR1_uc004efd.4_Missense_Mutation_p.F277L|CPXCR1_uc004efc.4_Missense_Mutation_p.F277L	p.F277L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			0	829	+			277					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.829T>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	T	1.339	-0.594620	0.03771	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.01505	4.82;4.82	3.57	-0.77	0.11005	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	1.024420	0.07843	N	0.963359	T	0.00906	0.0030	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49351	-0.8949	9	.	.	.	0.002	1.2472	0.01975	0.3811:0.3062:0.1851:0.1276	.	277	Q8N123	CPXCR_HUMAN	L	277	ENSP00000276127:F277L;ENSP00000362203:F277L	.	F	+	1	0	CPXCR1	87895900	0.001000	0.12720	0.122000	0.21767	0.487000	0.33371	-0.475000	0.06599	-0.293000	0.08986	-0.293000	0.09583	TTT		0.299	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		C	88009244	T	C	88009244	3	2	34	1	0	0	0	0	1	0	0	0	3836	1609	56	4	831	4	CPXCR1	23	88009244	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	15341982	88009244	67261316	103	2157											
TNFRSF4	7293	broad.mit.edu	37	chr1	1149465	1149465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggcccaggaggagcagagCcgcacacggcccgcggccca	9	0	15	17	4	0	1	0	0	0	1	0	3	0	3	4	5	2	2	4	5	0	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:1149465C>T	ENST00000379236.3	-	1	47	c.43G>A	c.(43-45)Gct>Act	p.A15T	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	15					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGAGCAGAGCCGCACACGGC	0.692																																						uc001adf.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4								Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.							13	15	14					1																	1149465		2180	4280	6460	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1149465C>T	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.43G>A	1.37:g.1149465C>T	ENSP00000368538:p.Ala15Thr					TNFRSF4_uc001ade.3_Missense_Mutation_p.A15T				P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	0		-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37		CCDS11.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954970	0.53293	.	.	ENSG00000186827	ENST00000379236	T	0.61980	0.06	3.49	3.49	0.39957	.	0.241932	0.26231	N	0.025561	T	0.70272	0.3205	L	0.55990	1.75	0.18873	N	0.999989	D	0.89917	1.0	D	0.79108	0.992	T	0.58521	-0.7622	10	0.25751	T	0.34	-36.2822	10.663	0.45712	0.0:1.0:0.0:0.0	.	15	P43489	TNR4_HUMAN	T	15	ENSP00000368538:A15T	ENSP00000368538:A15T	A	-	1	0	TNFRSF4	1139328	0.358000	0.24947	0.217000	0.23759	0.019000	0.09904	1.129000	0.31381	1.972000	0.57404	0.491000	0.48974	GCT		0.692	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			T	1149465	C	T	1149465	3	4	35	1	0	0	0	0	1	0	0	0	16294	739	26	3	818	3	TNFRSF4	1	1149465	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		1149465	248101156	1	2158											
SLC25A34	284723	broad.mit.edu	37	chr1	16065774	16065775	+	Frame_Shift_Ins	INS	-	-	C																															aagatctggcggcaggagggINSccccctggcactctacaagg																								rs377316492	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:16065774_16065775insC	ENST00000294454.5	+	5	869_870	c.788_789insC	c.(787-792)ggccccfs	p.GP263fs	RP11-288I21.1_ENST00000453804.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	263					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGAGGGCCCCCTGGCAC	0.649																																						uc001axb.1																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9						c.(787-789)ggcfs		Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.																																				SO:0001589	frameshift_variant	284723				transport	integral to membrane|mitochondrial inner membrane		g.chr1:16065774_16065775insC	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"Solute carriers"	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.793dupC	1.37:g.16065779_16065779dupC	ENSP00000294454:p.Gly263fs						p.G263fs	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	960_961	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	263					Q68DV0	Frame_Shift_Ins	INS	ENST00000294454.5	37	c.788_789insC	CCDS162.1																																																																																				0.649	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	NM_207348		C	16065775	-	C	16065774	7	5	35	1	0	1	1	0	0	0	0	0	14498	1203	42	0	806	0	SLC25A34	1	16065774	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08	14916309	16065774	233184847	2	2159											
C1orf201	90529	broad.mit.edu	37	chr1	24710467	24710467	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactggtgaataacattGtagaacccaggtcctgggat	11	10	13	7	0	0	3	0	2	0	1	1	4	1	4	2	4	2	1	2	4	4	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:24710467G>T	ENST00000374409.1	-	4	470	c.216C>A	c.(214-216)taC>taA	p.Y72*	STPG1_ENST00000337248.4_Nonsense_Mutation_p.Y72*|STPG1_ENST00000440416.1_Nonsense_Mutation_p.Y25*|STPG1_ENST00000003583.8_Nonsense_Mutation_p.Y25*|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	72					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAATAACATTGTAGAACCCAG	0.438																																						uc001bjc.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15						c.(214-216)taC>taA		Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.							176	163	168					1																	24710467		2203	4300	6503	SO:0001587	stop_gained	90529							g.chr1:24710467G>T	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.216C>A	1.37:g.24710467G>T	ENSP00000363530:p.Tyr72*					C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjd.3_Nonsense_Mutation_p.Y72*|C1orf201_uc001bjf.3_5'UTR	p.Y72*	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	3	383	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	72					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Nonsense_Mutation	SNP	ENST00000374409.1	37	c.216C>A	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.314038|3.314038	0.60414|0.60414	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000435187|ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986	.|.	.|.	.|.	6.03|6.03	4.15|4.15	0.48705|0.48705	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|.	0.23611|.	0.0571|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30238|.	-0.9985|.	3|.	.|0.02654	.|T	.|1	-10.0699|-10.0699	9.7008|9.7008	0.40184|0.40184	0.1627:0.0:0.8373:0.0|0.1627:0.0:0.8373:0.0	.|.	.|.	.|.	.|.	K|X	49|72;25;25;72;72	.|.	.|ENSP00000003583:Y25X	T|Y	-|-	2|3	0|2	C1orf201|C1orf201	24583054|24583054	0.972000|0.972000	0.33761|0.33761	0.995000|0.995000	0.50966|0.50966	0.450000|0.450000	0.32258|0.32258	1.241000|1.241000	0.32743|0.32743	1.558000|1.558000	0.49541|0.49541	0.655000|0.655000	0.94253|0.94253	ACA|TAC		0.438	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		T	24710467	G	T	24710467	4	4	35	1	0	0	0	0	0	1	0	0	2027	1372	48	5	812	5	C1orf201	1	24710467	Nonsense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	8644693	24710467	224540154	3	2160											
LEPRE1	64175	broad.mit.edu	37	chr1	43213879	43213879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcactcacctgtagtcGcggaaggtgtaggctggggg	6	7	16	12	3	1	0	1	0	0	0	2	1	1	1	3	5	0	4	3	5	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:43213879G>A	ENST00000296388.5	-	12	1881	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	LEPRE1_ENST00000236040.4_Silent_p.R610R|LEPRE1_ENST00000397054.3_Silent_p.R610R|LEPRE1_ENST00000462474.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	610	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTGTAGTCGCGGAAGGTGT	0.602																																						uc001chx.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1828-1830)cgC>cgT		Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						74	64	67					1																	43213879		2203	4300	6503	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213879G>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1830C>T	1.37:g.43213879G>A						LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chv.2_Silent_p.R610R	p.R610R	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN			11	1943	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	610			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.1830C>T	CCDS472.2																																																																																				0.602	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		A	43213879	G	A	43213879	2	1	35	1	0	0	0	0	0	0	0	1	8729	1074	38	1		1	LEPRE1	1	43213879	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	18503412	43213879	206036742	4	2161											
TOE1	114034	broad.mit.edu	37	chr1	45808763	45808764	+	Frame_Shift_Ins	INS	-	-	G																															ccacccctaggcttatggctINSggtgccccctgggaccacag																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:45808763_45808764insG	ENST00000372090.5	+	8	1505_1506	c.922_923insG	c.(922-924)tggfs	p.W308fs	TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000539779.1_Frame_Shift_Ins_p.W228fs|MUTYH_ENST00000528332.2_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	308						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GGCTTATGGCTGGTGCCCCCTG	0.569																																						uc009vxq.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(922-924)tggfs		Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.																																				SO:0001589	frameshift_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808763_45808764insG		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.924dupG	1.37:g.45808765_45808765dupG	ENSP00000361162:p.Trp308fs					MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.4_Non-coding_Transcript	p.W308fs	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			7	1505_1506	+	Acute lymphoblastic leukemia(166;0.155)		308					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Frame_Shift_Ins	INS	ENST00000372090.5	37	c.922_923insG	CCDS521.1																																																																																				0.569	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		G	45808764	-	G	45808763	7	5	35	1	0	1	1	0	0	0	0	0	16346	1580	55	0	952	0	TOE1	1	45808763	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08	2594884	45808763	203441858	5	2162											
GIPC2	54810	broad.mit.edu	37	chr1	78560730	78560730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatattgttgggtggcGtcactatgatgttgctaaga	12	13	12	4	1	1	3	1	1	0	2	1	3	1	3	0	2	1	3	0	2	5	6	rs143579527		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:78560730G>A	ENST00000370759.3	+	3	714	c.521G>A	c.(520-522)cGt>cAt	p.R174H	RNA5SP22_ENST00000365393.1_RNA	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	174	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTGGGTGGCGTCACTATGAT	0.348																																						uc001dik.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.(520-522)cGt>cAt		Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.		G	HIS/ARG	0,4406		0,0,2203	140	149	146		521	5.2	1	1	dbSNP_134	146	1,8599		0,1,4299	no	missense	GIPC2	NM_017655.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	174/316	78560730	1,13005	2203	4300	6503	SO:0001583	missense	54810					cytoplasm		g.chr1:78560730G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.521G>A	1.37:g.78560730G>A	ENSP00000359795:p.Arg174His					5S_rRNA_uc021oov.1_5'Flank	p.R174H	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN			2	711	+			174			PDZ.		Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	c.521G>A	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918620	0.92249	0.0	1.16E-4	ENSG00000137960	ENST00000370759	T	0.39592	1.07	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78016	-0.2369	10	0.87932	D	0	-4.4273	18.7788	0.91924	0.0:0.0:1.0:0.0	.	174	Q8TF65	GIPC2_HUMAN	H	174	ENSP00000359795:R174H	ENSP00000359795:R174H	R	+	2	0	GIPC2	78333318	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.071000	0.76770	2.615000	0.88500	0.561000	0.74099	CGT		0.348	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		A	78560730	G	A	78560730	3	1	35	1	0	0	0	0	1	0	0	0	6393	1145	40	1	531	1	GIPC2	1	78560730	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	32751967	78560730	170689891	6	2163											
POLR3C	10623	broad.mit.edu	37	chr1	145594170	145594170	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggcttctaccctctgAgatttttctagtagacgcct	8	15	8	10	1	3	3	0	2	3	2	3	4	3	3	2	1	1	2	2	1	3	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:145594170A>T	ENST00000334163.3	-	14	1552	c.1392T>A	c.(1390-1392)tcT>tcA	p.S464S	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	464					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTACCCTCTGAGATTTTTCTA	0.478																																						uc001eog.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1429-1431)tcT>tcA		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.							115	110	112					1																	145594170		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145594170A>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1392T>A	1.37:g.145594170A>T						POLR3C_uc001eoh.3_Silent_p.S464S|POLR3C_uc009wix.3_Intron	p.S477S	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		13	1474	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		464					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.1431T>A	CCDS921.1																																																																																				0.478	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		T	145594170	A	T	145594170	2	4	35	1	0	0	0	0	0	0	0	1	12230	291	11	5		5	POLR3C	1	145594170	Silent	SNP	A	TCGA-06-0174-01A-01D-1491-08	67033440	145594170	103656451	7	2164											
VPS72	6944	broad.mit.edu	37	chr1	151162515	151162515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagtcgtctggtagaacTcatcttcctcctctgcctcc	7	13	6	15	1	4	1	1	0	3	1	8	1	7	1	4	1	2	1	4	1	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:151162515T>C	ENST00000354473.4	-	1	119	c.83A>G	c.(82-84)gAg>gGg	p.E28G	VPS72_ENST00000496809.1_Intron			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	28	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGTAGAACTCATCTTCCTC	0.612																																					Pancreas(109;1131 2287 3209 24201)	uc001exe.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(82-84)gAg>gGg		Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.							106	117	113					1																	151162515		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151162515T>C	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.83A>G	1.37:g.151162515T>C	ENSP00000346464:p.Glu28Gly					VPS72_uc001exf.1_Missense_Mutation_p.E28G	p.E28G	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		0	126	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		28			Asp/Glu-rich (acidic).		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.83A>G	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868675	0.91587	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.3	4.17	0.49024	.	0.099748	0.64402	D	0.000002	T	0.74427	0.3715	M	0.88377	2.95	0.54753	D	0.999987	D	0.89917	1.0	D	0.75020	0.985	T	0.79112	-0.1937	9	0.66056	D	0.02	-6.2879	10.5981	0.45349	0.0:0.076:0.0:0.924	.	28	Q15906	VPS72_HUMAN	G	28	.	ENSP00000346464:E28G	E	-	2	0	VPS72	149429139	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.644000	0.74338	1.034000	0.39945	0.460000	0.39030	GAG		0.612	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		C	151162515	T	C	151162515	3	2	35	1	0	0	0	0	1	0	0	0	17214	1551	54	4	1035	4	VPS72	1	151162515	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	5568345	151162515	98088106	8	2165											
LRRC52	440699	broad.mit.edu	37	chr1	165532851	165532851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacctggaccacaaagaCtacatcttcctgctgctcat	11	9	6	15	1	2	1	1	0	1	1	3	2	3	2	3	1	3	3	3	1	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:165532851C>A	ENST00000294818.1	+	2	1022	c.732C>A	c.(730-732)gaC>gaA	p.D244E	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	244					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCACAAAGACTACATCTTCC	0.602																																						uc001gde.2																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(730-732)gaC>gaA		Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.							79	61	67					1																	165532851		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165532851C>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.732C>A	1.37:g.165532851C>A	ENSP00000294818:p.Asp244Glu					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	p.D244E	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			1	788	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		244					A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.732C>A	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625133	0.46840	.	.	ENSG00000162763	ENST00000294818	T	0.65178	-0.14	4.22	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.74258	2.255	0.27959	N	0.936846	D	0.71674	0.998	D	0.64410	0.925	T	0.69057	-0.5246	9	0.66056	D	0.02	.	8.1478	0.31121	0.0:0.8845:0.0:0.1155	.	244	Q8N7C0	LRC52_HUMAN	E	244	ENSP00000294818:D244E	ENSP00000294818:D244E	D	+	3	2	LRRC52	163799475	1.000000	0.71417	0.983000	0.44433	0.073000	0.16967	3.548000	0.53670	0.878000	0.35920	0.655000	0.94253	GAC		0.602	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		A	165532851	C	A	165532851	3	1	35	1	0	0	0	0	1	0	0	0	9010	564	20	5	738	5	LRRC52	1	165532851	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	14370336	165532851	83717770	9	2166											
SELE	6401	broad.mit.edu	37	chr1	169698757	169698757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgggaagcttccagggTtttggaaacattccacgaac	11	10	10	10	1	0	0	0	0	0	0	3	3	3	2	3	3	3	2	3	3	3	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:169698757T>C	ENST00000333360.7	-	6	912	c.773A>G	c.(772-774)aAc>aGc	p.N258S	SELE_ENST00000367774.1_Missense_Mutation_p.N258S|SELE_ENST00000367775.1_Missense_Mutation_p.N196S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.N196S|SELE_ENST00000367776.1_Missense_Mutation_p.N258S|SELE_ENST00000367777.1_Missense_Mutation_p.N258S|SELE_ENST00000367779.4_Missense_Mutation_p.N258S|SELE_ENST00000367781.4_Missense_Mutation_p.N258S|SELE_ENST00000367782.4_Missense_Mutation_p.N258S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	258	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCTTCCAGGGTTTTGGAAACA	0.438																																						uc001ggm.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(772-774)aAc>aGc		Homo sapiens selectin E (SELE), mRNA.							128	122	124					1																	169698757		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698757T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.773A>G	1.37:g.169698757T>C	ENSP00000331736:p.Asn258Ser					C1orf112_uc001ggj.3_Intron	p.N258S	NM_000450	NP_000441	P16581	LYAM2_HUMAN			5	930	-	all_hematologic(923;0.208)		258			Sushi 2.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.773A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	0.505	-0.869238	0.02570	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.71	-2.8	0.05823	Complement control module (2);Sushi/SCR/CCP (3);	0.508579	0.17288	N	0.179770	T	0.03651	0.0104	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.35076	-0.9803	10	0.06757	T	0.87	-2.8656	2.3735	0.04336	0.1271:0.2814:0.1246:0.4669	.	258	P16581	LYAM2_HUMAN	S	258;258;196;258;258;258;196;258;258	ENSP00000356755:N258S;ENSP00000356756:N258S;ENSP00000356754:N196S;ENSP00000356753:N258S;ENSP00000331736:N258S;ENSP00000356751:N258S;ENSP00000356749:N196S;ENSP00000356750:N258S;ENSP00000356748:N258S	ENSP00000331736:N258S	N	-	2	0	SELE	167965381	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.949000	0.03893	-0.145000	0.11294	-0.182000	0.12963	AAC		0.438	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		C	169698757	T	C	169698757	3	2	35	1	0	0	0	0	1	0	0	0	14013	1725	60	4	1091	4	SELE	1	169698757	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	4165906	169698757	79551864	10	2167											
XDH	7498	broad.mit.edu	37	chr2	31595165	31595165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtagcgaggaatgtcGtcacagtacacggcctcacc	9	9	10	13	4	3	0	2	0	1	0	5	2	3	1	2	2	2	2	2	2	3	3	rs140066757		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:31595165G>A	ENST00000379416.3	-	17	1833	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	595					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAGGAATGTCGTCACAGTACA	0.647													G|||	1	0.000199681	0	0	5008	,	,		18887	0.001		0	False		,,,				2504	0				Colon(66;682 1445 30109 40147)	uc002rnv.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1783-1785)gaC>gaT		Homo sapiens xanthine dehydrogenase (XDH), mRNA.	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	G		0,4406		0,0,2203	121	124	123		1785	-7.1	0.8	2	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XDH	NM_000379.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		595/1334	31595165	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31595165G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1785C>T	2.37:g.31595165G>A							p.D595D	NM_000379	NP_000370	P47989	XDH_HUMAN			16	1864	-	Acute lymphoblastic leukemia(172;0.155)		595					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1785C>T	CCDS1775.1																																																																																				0.647	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31595165	G	A	31595165	2	1	35	1	0	0	0	0	0	0	0	1	17423	1136	40	1		1	XDH	2	31595165	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08		31595165	211604208	11	2168											
STRN	6801	broad.mit.edu	37	chr2	37121134	37121153	+	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA	-																															ctttagagcttcttttgtatCtcgatcttcaccgctgtcag																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	ENST00000263918.4	-	7	827_846	c.819_838delTGACAGCGGTGAAGATCGAG	c.(817-840)cctgacagcggtgaagatcgagatfs	p.DSGEDRD274fs	STRN_ENST00000379213.2_Frame_Shift_Del_p.DSGEDRD262fs	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	274					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.D274E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT	0.368																																						uc002rpn.3																			1	Substitution - Missense(1)	p.D274E(2)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(817-840)cctgacagcggtgaagatcgagatfs		Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.																																				SO:0001589	frameshift_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.819_838delTGACAGCGGTGAAGATCGAG	2.37:g.37121134_37121153delCTCGATCTTCACCGCTGTCA	ENSP00000263918:p.Asp274fs					STRN_uc010ezx.3_Frame_Shift_Del_p.P273fs	p.P273fs	NM_003162	NP_003153	O43815	STRN_HUMAN			6	828_847	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	273					Q3KP65|Q53TQ8|Q9NP38	Frame_Shift_Del	DEL	ENST00000263918.4	37	c.819_838delTGACAGCGGTGAAGATCGAG	CCDS1784.1																																																																																				0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			-	37121153	CTCGATCTTCACCGCTGTCA	-	37121134	7	5	35	1	0	1	0	1	0	0	0	0	15328	913	32	0	1552	0	STRN	2	37121134	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	TCGA-06-0174-01A-01D-1491-08	5525969	37121134	206078239	12	2169											
SLC9A4	389015	broad.mit.edu	37	chr2	103149061	103149061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagggcaaggcctctttgGttgaggttcggtcgaggtgg	5	11	19	6	2	1	2	0	2	1	0	3	3	1	2	1	7	0	3	1	7	1	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:103149061G>T	ENST00000295269.4	+	12	2768	c.2311G>T	c.(2311-2313)Gtt>Ttt	p.V771F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	771					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCCTCTTTGGTTGAGGTTCG	0.537																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2311-2313)Gtt>Ttt		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.							85	52	63					2																	103149061		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149061G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2311G>T	2.37:g.103149061G>T	ENSP00000295269:p.Val771Phe						p.V771F	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			11	2768	+			771					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2311G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	5.980	0.364798	0.11296	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	0.158	0.158	0.14942	.	2.054410	0.02770	N	0.119586	T	0.27866	0.0686	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.42959	0.403	T	0.19877	-1.0292	9	0.10111	T	0.7	.	.	.	.	.	771	Q6AI14	SL9A4_HUMAN	F	771	ENSP00000295269:V771F	ENSP00000295269:V771F	V	+	1	0	SLC9A4	102515493	0.003000	0.15002	0.004000	0.12327	0.002000	0.02628	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	GTT		0.537	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103149061	G	T	103149061	3	4	35	1	0	0	0	0	1	0	0	0	14716	1261	44	5	2357	5	SLC9A4	2	103149061	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	66027927	103149061	140050312	13	2170											
PKP4	8502	broad.mit.edu	37	chr2	159519424	159519424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacggtggagaactgcGtgtgcaccctgaggaacctg	9	8	14	10	2	1	3	1	1	0	2	1	5	1	4	2	3	4	1	2	3	2	1	rs374838936		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:159519424G>A	ENST00000389759.3	+	14	2339	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.V743M	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	743					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.V743M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGAGAACTGCGTGTGCACCCT	0.498										HNSCC(62;0.18)																												uc002tzv.3																			1	Substitution - Missense(1)	p.V743M(2)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2227-2229)Gtg>Atg		Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	55	57	56		2227,2227	5.7	1	2		56	0,8600		0,0,4300	no	missense,missense	PKP4	NM_001005476.1,NM_003628.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	743/1150,743/1193	159519424	1,13005	2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519424G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2227G>A	2.37:g.159519424G>A	ENSP00000374409:p.Val743Met	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.3_Missense_Mutation_p.V743M|PKP4_uc002tzw.3_Missense_Mutation_p.V743M|PKP4_uc002tzx.3_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.3_Missense_Mutation_p.V595M|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	p.V743M	NM_003628	NP_003619	Q99569	PKP4_HUMAN			13	2487	+			743					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2227G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345785	0.61073	2.27E-4	0.0	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	D;D	0.84944	-1.92;-1.92	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.258302	0.39274	N	0.001416	D	0.91240	0.7239	M	0.62209	1.925	0.80722	D	1	D;D;P;D	0.71674	0.992;0.994;0.614;0.998	P;P;B;D	0.65010	0.79;0.848;0.135;0.931	D	0.91520	0.5234	10	0.87932	D	0	-10.6953	19.8968	0.96969	0.0:0.0:1.0:0.0	.	698;743;743;594	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	M	594;743;743	ENSP00000374407:V743M;ENSP00000374409:V743M	ENSP00000374407:V743M	V	+	1	0	PKP4	159227670	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.106000	0.64597	2.691000	0.91804	0.655000	0.94253	GTG		0.498	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			A	159519424	G	A	159519424	3	1	35	1	0	0	0	0	1	0	0	0	11987	1145	40	1	2277	1	PKP4	2	159519424	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	56370363	159519424	83679949	14	2171											
ASNSD1	54529	broad.mit.edu	37	chr2	190531945	190531945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagctgaagaaaagaccAtgccaactacctttaacaga	17	8	6	10	0	1	4	1	1	0	3	1	4	1	4	3	0	5	1	3	0	7	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:190531945A>G	ENST00000260952.4	+	4	1500	c.1087A>G	c.(1087-1089)Atg>Gtg	p.M363V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	363	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGAAAAGACCATGCCAACTAC	0.378																																						uc002uqt.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1087-1089)Atg>Gtg		Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.							86	82	84					2																	190531945		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531945A>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1087A>G	2.37:g.190531945A>G	ENSP00000260952:p.Met363Val						p.M363V	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		3	1521	+			363			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.1087A>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	0.851	-0.738613	0.03111	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.27557	1.66;1.66	5.65	-11.3	0.00108	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	2.683430	0.00766	N	0.001161	T	0.11452	0.0279	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.28530	T	0.3	-16.0813	8.3679	0.32397	0.1746:0.1705:0.5712:0.0837	.	363	Q9NWL6	ASND1_HUMAN	V	363	ENSP00000260952:M363V;ENSP00000406790:M363V	ENSP00000260952:M363V	M	+	1	0	ASNSD1	190240190	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.019000	0.12546	-2.938000	0.00298	0.533000	0.62120	ATG		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		G	190531945	A	G	190531945	3	3	35	1	0	0	0	0	1	0	0	0	1049	217	8	4	1089	4	ASNSD1	2	190531945	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	31012521	190531945	52667428	15	2172											
CNTN4	152330	broad.mit.edu	37	chr3	2861249	2861249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctactgtgtggcccGccaccccattctggaggtac	6	10	12	13	1	1	0	0	0	1	0	1	1	1	1	4	4	3	2	4	4	2	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:2861249G>A	ENST00000397461.1	+	6	822	c.438G>A	c.(436-438)ccG>ccA	p.P146P	CNTN4_ENST00000427331.1_Silent_p.P146P|CNTN4_ENST00000418658.1_Silent_p.P146P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	146	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGTGGCCCGCCACCCCATT	0.453																																						uc003bpc.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(436-438)ccG>ccA		Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.							94	93	93					3																	2861249		1968	4160	6128	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2861249G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.438G>A	3.37:g.2861249G>A						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.P146P|CNTN4_uc003bpd.1_Silent_p.P146P	p.P146P	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	6	777	+		Ovarian(110;0.156)	146			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.438G>A	CCDS43041.1																																																																																				0.453	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			A	2861249	G	A	2861249	2	1	35	1	0	0	0	0	0	0	0	1	3643	1074	38	1		1	CNTN4	3	2861249	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08		2861249	195161181	16	2173											
TRIM71	131405	broad.mit.edu	37	chr3	32933041	32933041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgactgccagtcggcacGctttctgggctcggagggca	5	7	14	15	4	1	0	0	0	1	0	3	2	1	1	3	4	1	4	3	4	0	1	rs373870640		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:32933041G>A	ENST00000383763.5	+	4	2408	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	782					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTCGGCACGCTTTCTGGGC	0.617																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2344-2346)cGc>cAc		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.		G	HIS/ARG	0,3950		0,0,1975	43	45	44		2345	6	1	3		44	1,8323		0,1,4161	no	missense	TRIM71	NM_001039111.1	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	benign	782/869	32933041	1,12273	1975	4162	6137	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933041G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2345G>A	3.37:g.32933041G>A	ENSP00000373272:p.Arg782His						p.R782H	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			3	2408	+			782						Missense_Mutation	SNP	ENST00000383763.5	37	c.2345G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112788	0.37242	0.0	1.2E-4	ENSG00000206557	ENST00000383763	D	0.90788	-2.73	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.150620	0.64402	D	0.000009	D	0.84902	0.5575	L	0.51853	1.615	0.80722	D	1	B	0.31640	0.333	B	0.17979	0.02	T	0.80372	-0.1410	10	0.15066	T	0.55	-45.897	12.3009	0.54874	0.0774:0.0:0.9226:0.0	.	782	Q2Q1W2	LIN41_HUMAN	H	782	ENSP00000373272:R782H	ENSP00000373272:R782H	R	+	2	0	TRIM71	32908045	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.018000	0.88722	2.830000	0.97506	0.655000	0.94253	CGC		0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32933041	G	A	32933041	3	1	35	1	0	0	0	0	1	0	0	0	16541	1087	38	1	2359	1	TRIM71	3	32933041	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	30071792	32933041	165089389	17	2174											
CNGA1	1259	broad.mit.edu	37	chr4	47939480	47939480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacgtattttctagccaaaCggccaaattcaggatcatta	14	12	6	9	2	3	0	2	0	1	0	3	1	3	1	2	2	3	1	2	2	6	7	rs150374036	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:47939480C>T	ENST00000514170.1	-	11	1350	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	CNGA1_ENST00000402813.3_Missense_Mutation_p.R413H|CNGA1_ENST00000544810.1_Missense_Mutation_p.R344H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R344H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R344H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	344					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTAGCCAAACGGCCAAATTC	0.413													C|||	19	0.00379393	0	0	5008	,	,		21784	0.004		0	False		,,,				2504	0.0153					uc003gxu.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1237-1239)cGt>cAt		Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.							115	113	114					4																	47939480		1894	4123	6017	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939480C>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1031G>A	4.37:g.47939480C>T	ENSP00000426862:p.Arg344His					BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R344H	p.R413H	NM_001142564	NP_000078	P29973	CNGA1_HUMAN			9	1379	-			344					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1238G>A	CCDS43226.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	12.88	2.069497	0.36470	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6	4.77	3.93	0.45458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.75447	2.3	0.45979	D	0.998794	P;P	0.50443	0.935;0.935	P;P	0.45681	0.49;0.49	D	0.93356	0.6722	10	0.17369	T	0.5	.	12.9556	0.58425	0.0:0.9214:0.0:0.0786	.	344;344	Q4W5E3;P29973	.;CNGA1_HUMAN	H	413;344;344;344;344	ENSP00000384264:R413H;ENSP00000426862:R344H;ENSP00000443401:R344H;ENSP00000351320:R344H;ENSP00000389881:R344H	ENSP00000351320:R344H	R	-	2	0	CNGA1	47634237	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	7.442000	0.80503	1.008000	0.39264	-0.258000	0.10820	CGT		0.413	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		T	47939480	C	T	47939480	3	4	35	1	0	0	0	0	1	0	0	0	3596	536	19	1	1045	1	CNGA1	4	47939480	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		47939480	143214796	18	2175											
PDGFRA	5156	broad.mit.edu	37	chr4	55133834	55133834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacctcccaggatatcctgGctgaaaaacaatctgactct	12	9	6	14	0	2	2	0	2	2	0	4	3	4	3	4	2	1	1	4	2	4	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:55133834G>C	ENST00000257290.5	+	7	1378	c.1047G>C	c.(1045-1047)tgG>tgC	p.W349C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	349	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.W349C(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGATATCCTGGCTGAAAAACA	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		1	Substitution - Missense(1)	p.W349C(2)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1045-1047)tgG>tgC		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						56	54	54					4																	55133834		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133834G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1047G>C	4.37:g.55133834G>C	ENSP00000257290:p.Trp349Cys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_Non-coding_Transcript	p.W349C	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1378	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		349			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1047G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255935	0.80135	.	.	ENSG00000134853	ENST00000257290	D	0.96300	-3.97	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.30538	U	0.009404	D	0.98560	0.9519	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99123	1.0850	10	0.87932	D	0	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	349;349	P16234-3;P16234	.;PGFRA_HUMAN	C	349	ENSP00000257290:W349C	ENSP00000257290:W349C	W	+	3	0	PDGFRA	54828591	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.401000	0.90202	2.745000	0.94114	0.462000	0.41574	TGG		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		C	55133834	G	C	55133834	3	2	35	1	0	0	0	0	1	0	0	0	11661	1212	42	5	1069	5	PDGFRA	4	55133834	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	7194354	55133834	136020442	19	2176											
UFSP2	55325	broad.mit.edu	37	chr4	186334930	186334930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtatgtggatttctaaTgtaaccatctttgtatggct	10	17	9	5	0	2	0	0	0	2	0	2	1	2	1	1	2	1	5	1	2	5	7			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:186334930T>C	ENST00000264689.6	-	7	897	c.781A>G	c.(781-783)Att>Gtt	p.I261V	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'Flank	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	261						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTCTAATGTAACCATCT	0.363																																						uc003ixo.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(781-783)Att>Gtt		Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.							178	177	177					4																	186334930		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186334930T>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.781A>G	4.37:g.186334930T>C	ENSP00000264689:p.Ile261Val					UFSP2_uc003ixq.2_Missense_Mutation_p.I151V	p.I261V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	6	898	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	261					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.781A>G	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.46|14.46	2.540584|2.540584	0.45280|0.45280	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689	.|T	.|0.30448	.|1.53	6.04|6.04	3.62|3.62	0.41486|0.41486	.|.	.|0.130647	.|0.52532	.|D	.|0.000066	T|T	0.24470|0.24470	0.0593|0.0593	L|L	0.44542|0.44542	1.39|1.39	0.36491|0.36491	D|D	0.86842|0.86842	.|B;B	.|0.15473	.|0.013;0.001	.|B;B	.|0.14023	.|0.006;0.01	T|T	0.14671|0.14671	-1.0464|-1.0464	5|10	.|0.49607	.|T	.|0.09	-25.5742|-25.5742	8.1278|8.1278	0.31010|0.31010	0.0:0.0717:0.3242:0.6041|0.0:0.0717:0.3242:0.6041	.|.	.|261;161	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	R|V	174|261	.|ENSP00000264689:I261V	.|ENSP00000264689:I261V	H|I	-|-	2|1	0|0	UFSP2|UFSP2	186571924|186571924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.485000|4.485000	0.60279|0.60279	1.085000|1.085000	0.41206|0.41206	0.459000|0.459000	0.35465|0.35465	CAT|ATT		0.363	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		C	186334930	T	C	186334930	3	2	35	1	0	0	0	0	1	0	0	0	16935	1464	51	4	652	4	UFSP2	4	186334930	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	131201096	186334930	4819346	20	2177											
TUBB4Q	56604	broad.mit.edu	37	chr4	190904151	190904152	+	IGR	INS	-	-	G																															aaggcccggtactgctggctINSgccccggctggtcagtgggg																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:190904151_190904152insG								FRG1 (19792 upstream) : RNA5SP174 (32140 downstream)																							TACTGCTGGCTGCCCCGGCTGG	0.614																																						uc011clg.2																			0											c.(613-618)ggcagcfs		Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.				211,48,1911		24,0,163,3,42,853						0.2	0.2			6	530,137,5037		44,0,442,7,123,2236	no	intergenic				68,0,605,10,165,3089	A1A1,A1A2,A1R,A2A2,A2R,RR		11.6935,11.9355,11.7602				741,185,6948				SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190904151_190904152insG																													4.37:g.190904152_190904152dupG							p.G205fs			Q99867	TBB4Q_HUMAN			3	833_834	-			277						Frame_Shift_Ins	INS		37	c.615_616insC																																																																																				0	0.614									G	190904152	-	G	190904151	6	5	35	0	1	1	1	0	0	0	0	0	16756	1580	55	0		0	TUBB4Q	4	190904151	IGR	INS	-	TCGA-06-0174-01A-01D-1491-08	4569221	190904151	250125	21	2178											
CCT5	22948	broad.mit.edu	37	chr5	10262653	10262653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatccggaacctcatcCgcgataatcgtgtggtgtat	8	12	11	10	4	2	0	2	0	0	0	5	2	4	1	3	2	1	1	3	2	3	2	rs200430696		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:10262653C>A	ENST00000280326.4	+	9	1660	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	CCT5_ENST00000515390.1_Missense_Mutation_p.R359S|CCT5_ENST00000503026.1_Missense_Mutation_p.R393S|CCT5_ENST00000506600.1_Missense_Mutation_p.R321S|CCT5_ENST00000515676.1_Missense_Mutation_p.R376S|CTD-2256P15.4_ENST00000606194.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	414					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAACCTCATCCGCGATAATCG	0.493																																						uc003jeq.3																			0		p.I413I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(1240-1242)Cgc>Agc		Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.							174	141	152					5																	10262653		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10262653C>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1240C>A	5.37:g.10262653C>A	ENSP00000280326:p.Arg414Ser					CCT5_uc011cmr.2_Missense_Mutation_p.R359S|CCT5_uc011cms.2_Missense_Mutation_p.R376S|CCT5_uc011cmt.2_Missense_Mutation_p.R321S	p.R414S	NM_012073	NP_036205	P48643	TCPE_HUMAN			8	1411	+			414					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.1240C>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426247	0.62733	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.09	5.09	0.68999	.	0.045995	0.85682	D	0.000000	D	0.84759	0.5543	M	0.78916	2.43	0.58432	D	0.999996	B;P;B;B;B	0.36162	0.161;0.54;0.226;0.226;0.226	B;P;B;B;B	0.50270	0.35;0.636;0.247;0.35;0.247	D	0.86042	0.1520	10	0.72032	D	0.01	-14.4748	12.9612	0.58460	0.1617:0.8382:0.0:0.0	.	321;359;412;414;414	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	S	414;393;359;387;376;321	ENSP00000280326:R414S;ENSP00000423318:R393S;ENSP00000426923:R359S;ENSP00000427297:R376S;ENSP00000423052:R321S	ENSP00000280326:R414S	R	+	1	0	CCT5	10315653	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.702000	0.47102	2.528000	0.85240	0.558000	0.71614	CGC		0.493	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			A	10262653	C	A	10262653	3	1	35	1	0	0	0	0	1	0	0	0	2956	652	23	5	1274	5	CCT5	5	10262653	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		10262653	170652607	22	2179											
SNX18	112574	broad.mit.edu	37	chr5	53815264	53815264	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaaccaggctatcgcCttcaccggagatgcctatga	9	8	11	13	2	1	3	1	2	0	1	2	4	1	3	5	3	2	1	5	3	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:53815264C>G	ENST00000326277.3	+	1	1672	c.1482C>G	c.(1480-1482)gcC>gcG	p.A494A	SNX18_ENST00000343017.6_Silent_p.A494A|SNX18_ENST00000381410.4_Silent_p.A494A	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	494	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGCTATCGCCTTCACCGGAG	0.617																																						uc003jpj.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1480-1482)gcC>gcG		Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.							56	54	55					5																	53815264		2203	4300	6503	SO:0001819	synonymous_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815264C>G	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1482C>G	5.37:g.53815264C>G						SNX18_uc011cqg.2_Silent_p.A494A|SNX18_uc003jpi.4_Silent_p.A494A	p.A494A	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			0	1672	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	494			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	c.1482C>G	CCDS3962.1																																																																																				0.617	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			G	53815264	C	G	53815264	2	3	35	1	0	0	0	0	0	0	0	1	14889	668	24	5		5	SNX18	5	53815264	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	43552611	53815264	127099996	23	2180											
PCDHA11	56138	broad.mit.edu	37	chr5	140250296	140250296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagttccaggtgagcgcGcgcgatgcgggcgtgccgcc	5	6	16	14	7	0	1	0	1	0	0	1	2	1	1	3	2	4	1	3	2	1	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140250296G>A	ENST00000398640.2	+	1	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGATGCGG	0.667																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1606-1608)gcG>gcA		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.							67	75	72					5																	140250296		2202	4298	6500	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140250296G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1608G>A	5.37:g.140250296G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A536A	p.A536A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2466	+			551			Cadherin 5.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1608G>A	CCDS47284.1																																																																																				0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140250296	G	A	140250296	2	1	35	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140250296	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	86435032	140250296	40664964	24	2181											
PCDHGB5	56102	broad.mit.edu	37	chr5	140779096	140779096	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcctggggcctccatcGcgcaagtctgcgcctcggac	5	7	11	18	4	1	0	0	0	1	0	5	1	3	1	5	3	1	1	5	3	1	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140779096G>A	ENST00000576222.1	+	1	2546				PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCATCGCGCAAGTCTG	0.567																																						uc003lkf.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1402-1404)Gcg>Acg		Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.							43	46	45					5																	140779096		1896	4119	6015	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779096G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26720G>A	5.37:g.140779096G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A468T	p.A468T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1402	+			474			Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1402G>A	CCDS58980.1																																																																																				0.567	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140779096	G	A	140779096	1	1	35	0	1	0	0	0	0	0	0	0	11566	1087	38	1		1	PCDHGB5	5	140779096	Intron	SNP	G	TCGA-06-0174-01A-01D-1491-08	528800	140779096	40136164	25	2182											
RANBP17	64901	broad.mit.edu	37	chr5	170351426	170351426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttggagcagttgtgcaCggtcagcagatgtgaatatg	10	10	15	6	1	1	2	1	1	0	1	1	3	1	3	0	2	3	6	0	2	2	3	rs369051193		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:170351426C>T	ENST00000523189.1	+	12	1504	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	447					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.T447M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTGTGCACGGTCAGCAGA	0.413			T	TRD@	ALL																																	uc003mba.3				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)	p.T447M(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1339-1341)aCg>aTg		Homo sapiens RAN binding protein 17 (RANBP17), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	143	128	133		1340	6.2	1	5		133	0,8600		0,0,4300	no	missense	RANBP17	NM_022897.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	447/1089	170351426	1,13005	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170351426C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1340C>T	5.37:g.170351426C>T	ENSP00000427975:p.Thr447Met					RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	p.T447M	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	1482	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	447					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1340C>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	c	31	5.099555	0.94197	2.27E-4	0.0	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.32023	1.47	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.61274	0.2334	M	0.86502	2.82	0.52501	D	0.999954	D	0.89917	1.0	D	0.64595	0.927	T	0.57452	-0.7809	10	0.30854	T	0.27	-15.6156	20.4549	0.99139	0.0:1.0:0.0:0.0	.	447	Q9H2T7	RBP17_HUMAN	M	447;343	ENSP00000427975:T447M	ENSP00000373770:T447M	T	+	2	0	RANBP17	170284031	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.633000	0.83260	2.937000	0.99478	0.650000	0.86243	ACG		0.413	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		T	170351426	C	T	170351426	3	4	35	1	0	0	0	0	1	0	0	0	13027	536	19	1	1386	1	RANBP17	5	170351426	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	29572330	170351426	10563834	26	2183											
PKHD1	5314	broad.mit.edu	37	chr6	51890717	51890717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactactggtgttgctgcCgcttcatacatgaaggtgaa	9	12	12	8	1	1	3	1	3	0	0	1	3	1	3	1	2	4	3	1	2	4	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:51890717C>T	ENST00000371117.3	-	32	4166	c.3891G>A	c.(3889-3891)gcG>gcA	p.A1297A	PKHD1_ENST00000340994.4_Silent_p.A1297A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1297					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTTGCTGCCGCTTCATACA	0.547																																						uc003pah.1																			0		p.A1297V(1)|p.A1297T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3889-3891)gcG>gcA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							99	88	92					6																	51890717		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890717C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3891G>A	6.37:g.51890717C>T						PKHD1_uc003pai.3_Silent_p.A1297A	p.A1297A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			31	4167	-	Lung NSC(77;0.0605)		1297					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3891G>A	CCDS4935.1																																																																																				0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51890717	C	T	51890717	2	4	35	1	0	0	0	0	0	0	0	1	11971	639	23	2		2	PKHD1	6	51890717	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		51890717	119224350	27	2184											
ENPP1	5167	broad.mit.edu	37	chr6	132203516	132203516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggaagacttctccaactGtctgtaccaggactttagaa	12	11	8	10	1	2	2	0	0	2	2	3	4	2	4	2	2	3	1	2	2	6	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:132203516G>C	ENST00000360971.2	+	21	2152	c.2132G>C	c.(2131-2133)tGt>tCt	p.C711S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	711	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTCCAACTGTCTGTACCAG	0.383																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2131-2133)tGt>tCt		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	Amifostine(DB01143)|Ribavirin(DB00811)						106	105	105					6																	132203516		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132203516G>C	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2132G>C	6.37:g.132203516G>C	ENSP00000354238:p.Cys711Ser						p.C711S	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	20	2152	+	Breast(56;0.0505)		711			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2132G>C	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878847	0.72294	.	.	ENSG00000197594	ENST00000360971	T	0.63417	-0.04	6.17	6.17	0.99709	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	M	0.89534	3.04	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.83892	0.0285	10	0.87932	D	0	-20.0002	18.6524	0.91435	0.0:0.0:1.0:0.0	.	711	P22413	ENPP1_HUMAN	S	711	ENSP00000354238:C711S	ENSP00000354238:C711S	C	+	2	0	ENPP1	132245209	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	5.993000	0.70616	2.941000	0.99782	0.655000	0.94253	TGT		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			C	132203516	G	C	132203516	3	2	35	1	0	0	0	0	1	0	0	0	5129	1377	48	5	2214	5	ENPP1	6	132203516	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	80312799	132203516	38911551	28	2185											
BBS9	27241	broad.mit.edu	37	chr7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttattttaggcattccgCgagttatccaatgtaaattt	10	18	6	7	2	0	0	0	0	0	0	2	1	2	0	2	1	0	3	2	1	6	8			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:33397475C>T	ENST00000242067.6	+	16	2082	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_ENST00000396127.2_Nonsense_Mutation_p.R486*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.R481*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.R486*|BBS9_ENST00000355070.2_Nonsense_Mutation_p.R516*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	521			R -> Q (in dbSNP:rs34218557).		cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome																													uc003tdn.1																		BBS9/PKD1L1(2)	0		p.R521Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(1561-1563)Cga>Tga		Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.							94	102	99					7																	33397475		2203	4299	6502	SO:0001587	stop_gained	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33397475C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1561C>T	7.37:g.33397475C>T	ENSP00000242067:p.Arg521*					BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	p.R521*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		15	2074	+			521		R -> Q (in dbSNP:rs34218557).			E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	c.1561C>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.807248|10.807248	0.99470|0.99470	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000434373|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	.|.	.|.	.|.	5.94|5.94	4.1|4.1	0.47936|0.47936	.|.	.|0.128329	.|0.49305	.|D	.|0.000159	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24941|.	-1.0146|.	4|.	.|0.02654	.|T	.|1	-16.6125|-16.6125	14.6331|14.6331	0.68671|0.68671	0.4657:0.5343:0.0:0.0|0.4657:0.5343:0.0:0.0	.|.	.|.	.|.	.|.	V|X	87|521;481;486;516;486;521	.|.	.|ENSP00000242067:R521X	A|R	+|+	2|1	0|2	BBS9|BBS9	33364000|33364000	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.987000|0.987000	0.75469|0.75469	1.220000|1.220000	0.32491|0.32491	0.803000|0.803000	0.34113|0.34113	-0.294000|-0.294000	0.09567|0.09567	GCG|CGA		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			T	33397475	C	T	33397475	4	4	35	1	0	0	0	0	0	1	0	0	1342	760	27	1	1619	1	BBS9	7	33397475	Nonsense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		33397475	125741188	29	2186											
AOAH	313	broad.mit.edu	37	chr7	36571797	36571797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttggaagacatccagcCgtggcaggggctgacctgag	8	8	15	10	1	0	3	0	2	0	1	1	4	1	4	3	4	1	3	3	4	1	2	rs371233935		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:36571797C>T	ENST00000258749.5	-	18	1780	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	AOAH_ENST00000538464.1_Missense_Mutation_p.G183S|AOAH_ENST00000431169.1_Missense_Mutation_p.G461S|AOAH_ENST00000535891.1_Missense_Mutation_p.G429S|AOAH_ENST00000491444.1_5'UTR	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	461					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACATCCAGCCGTGGCAGGGG	0.512																																						uc022abu.1																			0		p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1381-1383)Ggc>Agc		Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.		C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	104	100	101		1381,1285,1381	4.2	0.9	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	461/689,429/544,461/576	36571797	1,13005	2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571797C>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1381G>A	7.37:g.36571797C>T	ENSP00000258749:p.Gly461Ser					AOAH_uc003tfh.4_Missense_Mutation_p.G461S|AOAH_uc011kba.2_Missense_Mutation_p.G429S	p.G461S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN			17	1782	-			461					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.1381G>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058504	0.76074	0.0	1.16E-4	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.03	4.15	0.48705	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.171732	0.39985	N	0.001219	T	0.33352	0.0860	.	.	.	0.39887	D	0.973725	P;D;D	0.89917	0.881;1.0;0.988	B;D;P	0.65987	0.302;0.94;0.691	T	0.17167	-1.0378	9	0.62326	D	0.03	.	11.2113	0.48799	0.0:0.9131:0.0:0.0869	.	429;461;461	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	S	183;429;461;461;461	ENSP00000439283:G183S;ENSP00000441101:G429S;ENSP00000258749:G461S;ENSP00000405683:G461S	ENSP00000258749:G461S	G	-	1	0	AOAH	36538322	0.566000	0.26618	0.928000	0.36995	1.000000	0.99986	0.802000	0.27069	1.495000	0.48549	0.655000	0.94253	GGC		0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		T	36571797	C	T	36571797	3	4	35	1	0	0	0	0	1	0	0	0	726	652	23	2	703	2	AOAH	7	36571797	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	3174322	36571797	122566866	30	2187											
EPDR1	54749	broad.mit.edu	37	chr7	37989842	37989842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacagtcaaggattgctaTcctgtccaggaaacctttac	12	12	7	10	0	1	0	1	0	0	0	3	2	3	2	3	2	4	1	3	2	6	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37989842T>C	ENST00000199448.4	+	3	898	c.519T>C	c.(517-519)taT>taC	p.Y173Y	EPDR1_ENST00000425345.1_Silent_p.Y112Y|EPDR1_ENST00000559325.1_Silent_p.Y293Y|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Silent_p.Y71Y	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	173					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGATTGCTATCCTGTCCAGG	0.388																																						uc003tfp.3																			0		p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(877-879)taT>taC		Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.							63	65	64					7																	37989842		2203	4300	6503	SO:0001819	synonymous_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989842T>C	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.519T>C	7.37:g.37989842T>C						EPDR1_uc003tfq.3_3'UTR|EPDR1_uc010kxh.3_Silent_p.Y112Y	p.Y293Y	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			2	898	+			173					A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	c.879T>C	CCDS5454.2																																																																																				0.388	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		C	37989842	T	C	37989842	2	2	35	1	0	0	0	0	0	0	0	1	5163	1442	50	4		4	EPDR1	7	37989842	Silent	SNP	T	TCGA-06-0174-01A-01D-1491-08	1418045	37989842	121148821	31	2188											
VSTM2A	222008	broad.mit.edu	37	chr7	54612435	54612435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccaatggtggttcctgcGggggccggaggacctggatc	6	8	17	10	2	0	0	0	0	0	0	3	4	2	3	4	7	1	1	4	7	1	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:54612435G>A	ENST00000407838.3	+	2	606	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	VSTM2A_ENST00000302287.3_Missense_Mutation_p.R67Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R67Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R66Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R67Q	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	67	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGGTTCCTGCGGGGGCCGGAG	0.716																																						uc022adk.1																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(199-201)cGg>cAg		Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.							24	26	25					7																	54612435		2203	4298	6501	SO:0001583	missense	222008					extracellular region		g.chr7:54612435G>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.200G>A	7.37:g.54612435G>A	ENSP00000384967:p.Arg67Gln					VSTM2A_uc010kzf.3_Missense_Mutation_p.R67Q	p.R67Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		1	605	+			67			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.200G>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456973	0.63401	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.227351	0.34603	N	0.003840	T	0.55386	0.1917	L	0.52573	1.65	0.31732	N	0.636876	B;P;D	0.58620	0.119;0.89;0.983	B;B;B	0.43916	0.013;0.182;0.436	T	0.67933	-0.5542	10	0.62326	D	0.03	-5.7519	14.6885	0.69068	0.0:0.0:1.0:0.0	.	67;67;67	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	Q	67;67;67;66;67	ENSP00000303108:R67Q;ENSP00000384967:R67Q;ENSP00000384701:R67Q;ENSP00000385933:R66Q;ENSP00000384103:R67Q	ENSP00000303108:R67Q	R	+	2	0	VSTM2A	54579929	1.000000	0.71417	0.999000	0.59377	0.345000	0.29048	5.038000	0.64177	2.532000	0.85374	0.542000	0.68232	CGG		0.716	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		A	54612435	G	A	54612435	3	1	35	1	0	0	0	0	1	0	0	0	17226	1116	39	2	206	2	VSTM2A	7	54612435	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	16622593	54612435	104526228	32	2189											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	35	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	620608	55233043	103905620	33	2190											
EGFR	1956	broad.mit.edu	37	chr7	55233091	55233091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggaagtacgcagacgccgGccatgtgtgccacctgtgcc	7	7	13	14	3	0	1	0	0	0	1	0	2	0	2	5	2	3	2	5	2	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233091G>A	ENST00000275493.2	+	15	2018	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	EGFR_ENST00000454757.2_Missense_Mutation_p.G561D|EGFR_ENST00000455089.1_Missense_Mutation_p.G569D|EGFR_ENST00000342916.3_Missense_Mutation_p.G614D|EGFR_ENST00000442591.1_Missense_Mutation_p.G614D|EGFR_ENST00000344576.2_Missense_Mutation_p.G614D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	614					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCAGACGCCGGCCATGTGTGC	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1840-1842)gGc>gAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						77	69	72					7																	55233091		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233091G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1841G>A	7.37:g.55233091G>A	ENSP00000275493:p.Gly614Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G614D|EGFR_uc003tqj.3_Missense_Mutation_p.G614D|EGFR_uc022adm.1_Missense_Mutation_p.G614D|EGFR_uc010kzg.2_Missense_Mutation_p.G569D|EGFR_uc022adn.1_Missense_Mutation_p.G569D|EGFR_uc011kco.2_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G614D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2087	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		614					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1841G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.246297	0.01481	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.57	-5.53	0.02552	Growth factor, receptor (1);	1.178430	0.05765	N	0.605579	T	0.15609	0.0376	N	0.03224	-0.385	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.40646	-0.9552	10	0.02654	T	1	.	10.1392	0.42725	0.3353:0.1157:0.549:0.0	.	569;614;614;614	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	D	569;614;484;614;614;614;561;408	ENSP00000415559:G569D;ENSP00000342376:G614D;ENSP00000345973:G614D;ENSP00000275493:G614D;ENSP00000410031:G614D;ENSP00000395243:G561D	ENSP00000275493:G614D	G	+	2	0	EGFR	55200585	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.073000	0.14640	-1.192000	0.02691	0.655000	0.94253	GGC		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55233091	G	A	55233091	3	1	35	1	0	0	0	0	1	0	0	0	4967	1203	42	3	1910	3	EGFR	7	55233091	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	48	55233091	103905572	34	2191											
KIAA1324L	222223	broad.mit.edu	37	chr7	86548556	86548556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatcctgggatatgcaaGtttaagatcaggtaatcatt	14	14	8	5	0	2	1	2	0	0	1	3	2	3	2	1	2	1	3	1	2	6	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:86548556G>T	ENST00000450689.2	-	11	1655	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.N250K|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.N323K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.N490K|KIAA1324L_ENST00000490995.1_5'UTR	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	490						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATATGCAAGTTTAAGATCA	0.373																																						uc011kha.2																			0		p.L489L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1468-1470)aaC>aaA		Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.							68	68	68					7																	86548556		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86548556G>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1470C>A	7.37:g.86548556G>T	ENSP00000413445:p.Asn490Lys					KIAA1324L_uc003uie.3_Missense_Mutation_p.N323K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.N376K|KIAA1324L_uc003uif.2_Missense_Mutation_p.N242K	p.N490K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			10	1655	-	Esophageal squamous(14;0.0058)		490					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1470C>A	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.025872|4.025872	0.75390|0.75390	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01	6.08|6.08	3.32|3.32	0.38043|0.38043	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39517|0.39517	0.1081|0.1081	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999992|0.999992	.|P;P;P	.|0.52316	.|0.868;0.952;0.952	.|P;P;B	.|0.48952	.|0.596;0.523;0.385	T|T	0.43278|0.43278	-0.9401|-0.9401	5|10	.|0.06236	.|T	.|0.91	.|.	8.802|8.802	0.34914|0.34914	0.2847:0.0:0.7153:0.0|0.2847:0.0:0.7153:0.0	.|.	.|490;250;323	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	I|K	451|490;250;490;323	.|ENSP00000413445:N490K;ENSP00000297222:N250K;ENSP00000397377:N490K;ENSP00000402390:N323K	.|ENSP00000297222:N250K	L|N	-|-	1|3	0|2	KIAA1324L|KIAA1324L	86386492|86386492	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	2.999000|2.999000	0.49473|0.49473	0.455000|0.455000	0.26910|0.26910	0.655000|0.655000	0.94253|0.94253	CTT|AAC		0.373	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		T	86548556	G	T	86548556	3	4	35	1	0	0	0	0	1	0	0	0	8224	1020	36	5	1667	5	KIAA1324L	7	86548556	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	31315465	86548556	72590107	35	2192											
FAM200A	221786	broad.mit.edu	37	chr7	99145995	99145995	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctgggtaccccctggAgacaaatctgtagtatccct	9	11	8	13	0	2	1	0	0	2	1	4	2	3	1	4	2	1	3	4	2	4	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:99145995A>C	ENST00000449309.1	-	2	415	c.36T>G	c.(34-36)tcT>tcG	p.S12S		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	12						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TACCCCCTGGAGACAAATCTG	0.453																																						uc003ura.3																			0				endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						c.(34-36)tcT>tcG		Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.							86	90	89					7																	99145995		2203	4300	6503	SO:0001819	synonymous_variant	221786					integral to membrane	nucleic acid binding	g.chr7:99145995A>C		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.36T>G	7.37:g.99145995A>C						FAM200A_uc003urb.3_Silent_p.S12S|FAM200A_uc022aia.1_Silent_p.S12S	p.S12S	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN			1	416	-			12					A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	37	c.36T>G	CCDS5668.1																																																																																				0.453	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		C	99145995	A	C	99145995	2	2	35	1	0	0	0	0	0	0	0	1	5536	291	11	5		5	FAM200A	7	99145995	Silent	SNP	A	TCGA-06-0174-01A-01D-1491-08	12597439	99145995	59992668	36	2193											
FBXO24	26261	broad.mit.edu	37	chr7	100197689	100197689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccatcaccctgtggtgCggcctcaaccactccctggt	5	8	10	18	2	2	0	2	0	0	0	3	0	3	0	5	4	2	0	5	4	1	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:100197689C>T	ENST00000241071.6	+	9	1564	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Silent_p.C402C|FBXO24_ENST00000427939.2_Silent_p.C452C|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	414					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCTGTGGTGCGGCCTCAACC	0.692																																						uc011kjz.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1354-1356)tgC>tgT		Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.							27	29	28					7																	100197689		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100197689C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1242C>T	7.37:g.100197689C>T						FBXO24_uc003uvm.1_Silent_p.C414C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.C402C|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	p.C452C	NM_012172	NP_036304	O75426	FBX24_HUMAN			8	1424	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		414					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.1356C>T	CCDS5698.1																																																																																				0.692	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			T	100197689	C	T	100197689	2	4	35	1	0	0	0	0	0	0	0	1	5735	776	27	1		1	FBXO24	7	100197689	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	1051694	100197689	58940974	37	2194											
SVOPL	136306	broad.mit.edu	37	chr7	138314843	138314843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatatttagcatccaataGgtctgcaaatcttcctcttt	12	16	4	9	0	3	0	0	0	3	0	5	0	5	0	2	1	2	2	2	1	7	7			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:138314843G>T	ENST00000419765.3	-	9	847	c.814C>A	c.(814-816)Cta>Ata	p.L272I	SVOPL_ENST00000421622.1_Missense_Mutation_p.L152I|SVOPL_ENST00000288513.5_Missense_Mutation_p.L120I|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000436657.1_Missense_Mutation_p.L120I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	272						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCATCCAATAGGTCTGCAAAT	0.393																																						uc011kqh.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(814-816)Cta>Ata		Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.							190	162	172					7																	138314843		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138314843G>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.814C>A	7.37:g.138314843G>T	ENSP00000405482:p.Leu272Ile					SVOPL_uc003vue.3_Missense_Mutation_p.L120I	p.L272I	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			8	814	-			272						Missense_Mutation	SNP	ENST00000419765.3	37	c.814C>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888279	0.72524	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.60424	0.19;0.19;0.19;0.26	5.43	2.58	0.30949	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.78637	2.42	0.39783	D	0.972329	D;D	0.89917	0.997;1.0	D;D	0.83275	0.971;0.996	T	0.73830	-0.3859	10	0.72032	D	0.01	-10.6386	9.7058	0.40214	0.2296:0.0:0.7704:0.0	.	272;120	Q8N434;Q8N434-2	SVOPL_HUMAN;.	I	120;152;120;272	ENSP00000288513:L120I;ENSP00000412830:L152I;ENSP00000417018:L120I;ENSP00000405482:L272I	ENSP00000288513:L120I	L	-	1	2	SVOPL	137965383	1.000000	0.71417	0.672000	0.29872	0.993000	0.82548	1.669000	0.37492	0.377000	0.24735	0.650000	0.86243	CTA		0.393	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		T	138314843	G	T	138314843	3	4	35	1	0	0	0	0	1	0	0	0	15421	991	35	5	692	5	SVOPL	7	138314843	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	38117154	138314843	20823820	38	2195											
NOS3	4846	broad.mit.edu	37	chr7	150699051	150699051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaaggcttttgatcccCgggtagggctgagcccaggg	6	8	16	11	2	0	2	0	2	0	0	2	3	2	3	4	5	1	3	4	5	2	3	rs142781987		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:150699051C>T	ENST00000484524.1	+	12	1645	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	NOS3_ENST00000467517.1_Missense_Mutation_p.R549W|NOS3_ENST00000461406.1_Missense_Mutation_p.R343W|NOS3_ENST00000297494.3_Missense_Mutation_p.R549W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTGATCCCCGGGTAGGGCT	0.612																																						uc003wif.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1645-1647)Cgg>Tgg		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	30	34	33		1645,1645,1645,1645	4.8	1	7	dbSNP_134	33	1,8595		0,1,4297	no	missense,missense,missense,missense	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	101,101,101,101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	549/1204,549/597,549/615,549/630	150699051	1,13001	2203	4298	6501	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699051C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1645C>T	7.37:g.150699051C>T	ENSP00000420215:p.Arg549Trp					NOS3_uc011kuy.2_Missense_Mutation_p.R343W|NOS3_uc011kva.2_Missense_Mutation_p.R549W|NOS3_uc011kuz.2_Missense_Mutation_p.R549W|NOS3_uc011kvb.2_Missense_Mutation_p.R549W	p.R549W	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1941	+	all_neural(206;0.219)		549			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1645C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282033	0.80692	0.0	1.16E-4	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.137657	0.31859	N	0.006952	D	0.85745	0.5768	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.998;0.998	D;D;D;D;D	0.73708	0.96;0.97;0.981;0.93;0.948	D	0.87463	0.2409	10	0.87932	D	0	-13.858	10.9263	0.47193	0.1872:0.8128:0.0:0.0	.	549;549;549;343;549	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	549;343;549;549	ENSP00000297494:R549W;ENSP00000417143:R343W;ENSP00000420215:R549W;ENSP00000420551:R549W	ENSP00000297494:R549W	R	+	1	2	NOS3	150329984	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.666000	0.46799	2.376000	0.81061	0.655000	0.94253	CGG		0.612	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		T	150699051	C	T	150699051	3	4	35	1	0	0	0	0	1	0	0	0	10544	643	23	2	1691	2	NOS3	7	150699051	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	12384208	150699051	8439612	39	2196											
NEIL2	252969	broad.mit.edu	37	chr8	11643604	11643604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtacagcctggctgcaggGcaagttccaaggcagaccgc	10	5	13	13	1	0	1	0	0	0	1	1	1	1	1	3	3	3	6	3	3	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:11643604G>A	ENST00000284503.6	+	5	1420	c.821G>A	c.(820-822)gGc>gAc	p.G274D	NEIL2_ENST00000528323.1_Missense_Mutation_p.G158D|NEIL2_ENST00000403422.3_Missense_Mutation_p.G213D|NEIL2_ENST00000455213.2_Missense_Mutation_p.G274D|NEIL2_ENST00000436750.3_Missense_Mutation_p.G274D	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	274					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGCTGCAGGGCAAGTTCCAA	0.607								Base excision repair (BER), DNA glycosylases																														uc003wug.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(820-822)gGc>gAc	Base excision repair (BER), DNA glycosylases	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.							81	77	79					8																	11643604		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11643604G>A	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.821G>A	8.37:g.11643604G>A	ENSP00000284503:p.Gly274Asp					NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	p.G274D	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	4	1496	+	all_epithelial(15;0.103)		274					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.821G>A	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.729441	0.00687	.	.	ENSG00000154328	ENST00000455213;ENST00000403422;ENST00000528323;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T;T	0.16743	3.26;3.22;2.32;3.26;3.26	5.34	-6.53	0.01866	.	0.509754	0.24571	N	0.037395	T	0.07143	0.0181	N	0.12746	0.255	0.18873	N	0.999983	B;B	0.12013	0.0;0.005	B;B	0.14578	0.002;0.011	T	0.19844	-1.0293	10	0.37606	T	0.19	-7.1442	11.1437	0.48417	0.5912:0.0863:0.3226:0.0	.	158;274	B4DFR7;Q969S2	.;NEIL2_HUMAN	D	274;213;158;274;274;259	ENSP00000397538:G274D;ENSP00000384070:G213D;ENSP00000435657:G158D;ENSP00000394023:G274D;ENSP00000284503:G274D	ENSP00000284503:G274D	G	+	2	0	NEIL2	11681013	0.216000	0.23585	0.424000	0.26647	0.051000	0.14879	-0.417000	0.07088	-0.929000	0.03757	-0.794000	0.03295	GGC		0.607	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		A	11643604	G	A	11643604	3	1	35	1	0	0	0	0	1	0	0	0	10319	1203	42	3	840	3	NEIL2	8	11643604	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		11643604	134720418	40	2197											
DOCK5	80005	broad.mit.edu	37	chr8	25191663	25191663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttccagcattttaatcctGtacttgaaacctacatttac	12	15	4	10	0	0	1	0	1	0	0	2	1	2	1	3	0	5	3	3	0	5	8			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:25191663G>A	ENST00000276440.7	+	21	2187	c.2143G>A	c.(2143-2145)Gta>Ata	p.V715I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	715					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTTAATCCTGTACTTGAAAC	0.368																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2143-2145)Gta>Ata		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							154	151	152					8																	25191663		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25191663G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2143G>A	8.37:g.25191663G>A	ENSP00000276440:p.Val715Ile					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.3_Missense_Mutation_p.V285I|DOCK5_uc003xej.3_Non-coding_Transcript	p.V715I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	20	2280	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	715					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2143G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.300182|5.300182	0.95574|0.95574	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.62788	.|-0.0	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Armadillo-type fold (1);	.|0.127009	.|0.52532	.|D	.|0.000067	T|T	0.82001|0.82001	0.4942|0.4942	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.50710	.|0.938;0.93;0.938	.|P;P;P	.|0.54401	.|0.589;0.751;0.589	D|D	0.85296|0.85296	0.1070|0.1070	5|10	.|0.87932	.|D	.|0	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|705;490;715	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	Y|I	486|715	.|ENSP00000276440:V715I	.|ENSP00000276440:V715I	C|V	+|+	2|1	0|0	DOCK5|DOCK5	25247580|25247580	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	9.869000|9.869000	0.99810|0.99810	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	TGT|GTA		0.368	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25191663	G	A	25191663	3	1	35	1	0	0	0	0	1	0	0	0	4690	1377	48	3	2225	3	DOCK5	8	25191663	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	13548059	25191663	121172359	41	2198											
TEX15	56154	broad.mit.edu	37	chr8	30700748	30700748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtatcatatatcttcTgcaacttagaaaaggcacat	17	11	5	8	0	3	1	1	0	2	1	3	1	3	1	0	1	2	3	0	1	8	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:30700748T>C	ENST00000256246.2	-	1	5860	c.5786A>G	c.(5785-5787)cAg>cGg	p.Q1929R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1929					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATATATCTTCTGCAACTTAGA	0.358																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(5785-5787)cAg>cGg		Homo sapiens testis expressed 15 (TEX15), mRNA.							94	90	91					8																	30700748		2202	4297	6499	SO:0001583	missense	56154							g.chr8:30700748T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5786A>G	8.37:g.30700748T>C	ENSP00000256246:p.Gln1929Arg						p.Q1929R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	5786	-			1929						Missense_Mutation	SNP	ENST00000256246.2	37	c.5786A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.598885	0.13939	.	.	ENSG00000133863	ENST00000256246	T	0.12361	2.69	5.73	5.73	0.89815	.	0.360253	0.23635	N	0.046086	T	0.17534	0.0421	L	0.40543	1.245	0.09310	N	1	P	0.42296	0.775	B	0.43916	0.436	T	0.07673	-1.0760	10	0.87932	D	0	.	15.0081	0.71527	0.0:0.0:0.0:1.0	.	1929	Q9BXT5	TEX15_HUMAN	R	1929	ENSP00000256246:Q1929R	ENSP00000256246:Q1929R	Q	-	2	0	TEX15	30820290	0.895000	0.30542	0.112000	0.21494	0.460000	0.32559	2.566000	0.45948	2.195000	0.70347	0.477000	0.44152	CAG		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30700748	T	C	30700748	3	2	35	1	0	0	0	0	1	0	0	0	15776	1580	55	4	2599	4	TEX15	8	30700748	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	5509085	30700748	115663274	42	2199											
ST18	9705	broad.mit.edu	37	chr8	53025895	53025895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaattctgctcactgatagGtccctaaatggagacaaaac	16	9	7	9	0	2	2	1	1	1	1	3	3	3	2	1	2	2	1	1	2	7	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:53025895G>A	ENST00000276480.7	-	26	3690	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1003					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACTGATAGGTCCCTAAATG	0.463																																						uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(3007-3009)Cct>Tct		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							114	99	104					8																	53025895		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53025895G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3007C>T	8.37:g.53025895G>A	ENSP00000276480:p.Pro1003Ser					ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	p.P1003S	NM_014682	NP_055497	O60284	ST18_HUMAN			20	3163	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	1003					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.3007C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224833	0.95173	.	.	ENSG00000147488	ENST00000276480	T	0.57107	0.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74472	-0.3654	10	0.72032	D	0.01	-16.4475	20.417	0.99027	0.0:0.0:1.0:0.0	.	1003	O60284	ST18_HUMAN	S	1003	ENSP00000276480:P1003S	ENSP00000276480:P1003S	P	-	1	0	ST18	53188448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	CCT		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53025895	G	A	53025895	3	1	35	1	0	0	0	0	1	0	0	0	15211	1261	44	3	140	3	ST18	8	53025895	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	22325147	53025895	93338127	43	2200											
CPA6	57094	broad.mit.edu	37	chr8	68334862	68334862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatccagtgtcacgtagttcGaaagcaaatgcataaggtat	14	11	9	7	2	1	0	1	0	0	0	3	1	2	0	1	1	2	5	1	1	6	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:68334862G>A	ENST00000297770.4	-	11	1406	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CPA6_ENST00000297769.4_Silent_p.F153F	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	397						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACGTAGTTCGAAAGCAAATG	0.383																																						uc003xxq.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(1189-1191)ttC>ttT		Homo sapiens carboxypeptidase A6 (CPA6), mRNA.							126	126	126					8																	68334862		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334862G>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1191C>T	8.37:g.68334862G>A						CPA6_uc003xxr.4_Silent_p.F153F	p.F397F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		10	1447	-			397					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.1191C>T	CCDS6200.1																																																																																				0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		A	68334862	G	A	68334862	2	1	35	1	0	0	0	0	0	0	0	1	3794	1049	37	2		2	CPA6	8	68334862	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	15308967	68334862	78029160	44	2201											
JPH1	56704	broad.mit.edu	37	chr8	75171694	75171694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggcgagcggccagcGcggcctggtcggcggcatcg	4	5	17	15	7	0	0	0	0	0	0	3	1	1	0	3	6	2	1	3	6	0	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:75171694G>A	ENST00000342232.4	-	3	1224	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGGCCAGCGCGGCCTGGTC	0.597																																						uc003yae.3																			0		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1183-1185)gCg>gTg		Homo sapiens junctophilin 1 (JPH1), mRNA.							31	33	32					8																	75171694		2202	4299	6501	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171694G>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1184C>T	8.37:g.75171694G>A	ENSP00000344488:p.Ala395Val					JPH1_uc003yaf.3_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	p.A395V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1224	-	Breast(64;0.00576)		395			Ala-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1184C>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109714	0.77096	.	.	ENSG00000104369	ENST00000342232	T	0.78126	-1.15	5.1	5.1	0.69264	.	0.055496	0.64402	D	0.000001	T	0.81754	0.4889	M	0.84219	2.685	0.43317	D	0.995335	D	0.56746	0.977	P	0.46940	0.532	D	0.84781	0.0773	10	0.66056	D	0.02	.	13.5081	0.61495	0.0:0.1571:0.8429:0.0	.	395	Q9HDC5	JPH1_HUMAN	V	395	ENSP00000344488:A395V	ENSP00000344488:A395V	A	-	2	0	JPH1	75334248	1.000000	0.71417	0.733000	0.30861	0.469000	0.32828	4.943000	0.63554	2.809000	0.96659	0.655000	0.94253	GCG		0.597	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			A	75171694	G	A	75171694	3	1	35	1	0	0	0	0	1	0	0	0	7960	1087	38	1	813	1	JPH1	8	75171694	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	6836832	75171694	71192328	45	2202											
RAD54B	25788	broad.mit.edu	37	chr8	95412584	95412584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctttattactggcttgCctccatagggtccctgacac	6	15	7	13	0	2	1	0	1	2	0	4	1	4	1	3	2	2	1	3	2	3	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:95412584C>T	ENST00000336148.5	-	7	1176	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	351	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACTGGCTTGCCTCCATAGGG	0.433								Direct reversal of damage;Homologous recombination																														uc003ygk.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1051-1053)gGc>gAc	Direct reversal of damage;Homologous recombination	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.							71	69	70					8																	95412584		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412584C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1052G>A	8.37:g.95412584C>T	ENSP00000336606:p.Gly351Asp					RAD54B_uc010may.2_Missense_Mutation_p.G167D|RAD54B_uc003ygl.2_Non-coding_Transcript	p.G351D	NM_012415	NP_001192192	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		6	1183	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.1052G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604068	0.87157	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.93426	-3.22	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.047737	0.85682	D	0.000000	D	0.96710	0.8926	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96520	0.9385	10	0.54805	T	0.06	-21.3372	19.4213	0.94723	0.0:1.0:0.0:0.0	.	351	Q9Y620	RA54B_HUMAN	D	351;24	ENSP00000336606:G351D	ENSP00000336606:G351D	G	-	2	0	RAD54B	95481760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.589000	0.87451	0.655000	0.94253	GGC		0.433	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		T	95412584	C	T	95412584	3	4	35	1	0	0	0	0	1	0	0	0	12992	739	26	3	1716	3	RAD54B	8	95412584	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	20240890	95412584	50951438	46	2203											
TRPS1	7227	broad.mit.edu	37	chr8	116616647	116616647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccttctttttagcccCactcgagctcttgtctgtct	5	16	7	13	1	4	0	0	0	4	0	6	2	5	0	3	0	2	1	3	0	2	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:116616647C>G	ENST00000220888.5	-	3	1669	c.1510G>C	c.(1510-1512)Ggg>Cgg	p.G504R	TRPS1_ENST00000395715.3_Missense_Mutation_p.G517R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G508R|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.G504R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	504					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTAGCCCCACTCGAGCTC	0.438									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1549-1551)Ggg>Cgg		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							141	136	138					8																	116616647		1873	4112	5985	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616647C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1510G>C	8.37:g.116616647C>G	ENSP00000220888:p.Gly504Arg					TRPS1_uc011lhy.2_Missense_Mutation_p.G508R|TRPS1_uc003ynz.3_Missense_Mutation_p.G504R|TRPS1_uc010mcy.3_Missense_Mutation_p.G504R	p.G517R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2127	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		504					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1549G>C		.	.	.	.	.	.	.	.	.	.	C	6.313	0.425820	0.11987	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98296	-4.85;-4.82;-4.82;0.99	5.6	4.71	0.59529	.	0.430845	0.23791	N	0.044530	D	0.92808	0.7713	N	0.03608	-0.345	0.29802	N	0.832353	B;B;B	0.27791	0.062;0.037;0.189	B;B;B	0.28784	0.094;0.043;0.059	D	0.89353	0.3662	10	0.72032	D	0.01	.	9.9458	0.41609	0.0:0.8535:0.0:0.1465	.	508;504;517	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	517;504;508;504	ENSP00000379065:G517R;ENSP00000220888:G504R;ENSP00000428680:G508R;ENSP00000429174:G504R	ENSP00000220888:G504R	G	-	1	0	TRPS1	116685822	0.114000	0.22134	0.989000	0.46669	0.104000	0.19210	0.925000	0.28791	2.793000	0.96121	0.591000	0.81541	GGG		0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		G	116616647	C	G	116616647	3	3	35	1	0	0	0	0	1	0	0	0	16590	594	21	5	2351	5	TRPS1	8	116616647	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	21204063	116616647	29747375	47	2204											
DMRTA1	63951	broad.mit.edu	37	chr9	22447335	22447336	+	Frame_Shift_Ins	INS	-	-	A																															aggcgcggtgggctgcggctINSacccgcggacgcccaagtgc																								rs111465355		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:22447335_22447336insA	ENST00000325870.2	+	1	496_497	c.271_272insA	c.(271-273)tacfs	p.Y91fs		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	91					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGGCTGCGGCTACCCGCGGACG	0.762																																						uc003zpp.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(271-273)tacfs		Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.				443,224,1317		147,2,147,64,94,538						2.8	1			3	783,442,3471		242,2,297,96,248,1463	no	codingComplex	DMRTA1	NM_022160.2		389,4,444,160,342,2001	A1A1,A1A2,A1R,A2A2,A2R,RR		26.086,33.619,28.3234				1226,666,4788				SO:0001589	frameshift_variant	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22447335_22447336insA	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.272dupA	9.37:g.22447336_22447336dupA	ENSP00000319651:p.Tyr91fs						p.Y91fs	NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	0	496_497	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	91					A1L481|Q8N8Y9|Q9H4B9	Frame_Shift_Ins	INS	ENST00000325870.2	37	c.271_272insA	CCDS6514.1																																																																																				0.762	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			A	22447336	-	A	22447335	7	5	35	1	0	1	1	0	0	0	0	0	4588	1522	53	0	273	0	DMRTA1	9	22447335	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08		22447335	118766096	48	2205											
VAV2	7410	broad.mit.edu	37	chr9	136653541	136653541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagcagctcgatgatctCcttgagctcgtagctgtagc	9	10	11	11	2	1	2	0	2	1	0	4	4	1	2	1	0	6	6	1	0	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:136653541C>T	ENST00000371850.3	-	15	1373	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	VAV2_ENST00000371851.1_Missense_Mutation_p.E443K|VAV2_ENST00000406606.3_Missense_Mutation_p.E443K	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	448	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGATGATCTCCTTGAGCTCG	0.592																																						uc004ces.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1342-1344)Gag>Aag		Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.							192	135	154					9																	136653541		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136653541C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1342G>A	9.37:g.136653541C>T	ENSP00000360916:p.Glu448Lys					VAV2_uc004cer.3_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	p.E448K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	14	1388	-			448			PH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1342G>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942003	0.73557	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.88354	-2.37;-2.37;-2.37	4.81	4.81	0.61882	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.053437	0.64402	D	0.000001	D	0.91613	0.7350	M	0.65975	2.015	0.80722	D	1	B;B	0.29232	0.216;0.238	B;B	0.43413	0.243;0.419	D	0.91589	0.5285	10	0.66056	D	0.02	.	17.8879	0.88862	0.0:1.0:0.0:0.0	.	448;443	P52735;P52735-3	VAV2_HUMAN;.	K	448;443;443;443	ENSP00000360916:E448K;ENSP00000360917:E443K;ENSP00000385362:E443K	ENSP00000317258:E443K	E	-	1	0	VAV2	135643362	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.725000	0.68507	2.222000	0.72286	0.478000	0.44815	GAG		0.592	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			T	136653541	C	T	136653541	3	4	35	1	0	0	0	0	1	0	0	0	17129	864	30	3	1358	3	VAV2	9	136653541	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	114206206	136653541	4559890	49	2206											
KIAA1217	56243	broad.mit.edu	37	chr10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtgctctggagtccaCggtgcctcccagccagcctc	5	8	11	17	1	2	0	1	0	1	0	5	1	4	1	5	2	4	2	5	2	0	0	rs141937477		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:24790356C>T	ENST00000376454.3	+	9	1913	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000376451.2_Missense_Mutation_p.T311M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	628					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582																																						uc001iru.4																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1882-1884)aCg>aTg		Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.		C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	76	62	67		1643,1778,1883	2.9	0	10	dbSNP_134	67	0,8600		0,0,4300	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	548/1265,593/1310,628/1944	24790356	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24790356C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1883C>T	10.37:g.24790356C>T	ENSP00000365637:p.Thr628Met					KIAA1217_uc001irs.3_Missense_Mutation_p.T548M|KIAA1217_uc001irt.4_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.2_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.2_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.T311M|KIAA1217_uc001irz.3_Missense_Mutation_p.T311M|KIAA1217_uc001irx.3_Missense_Mutation_p.T311M|KIAA1217_uc001iry.3_Missense_Mutation_p.T311M	p.T628M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			8	2286	+			628					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1883C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080632	0.36758	2.27E-4	0.0	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.88	2.91	0.33838	.	2.091820	0.01788	N	0.032166	T	0.53498	0.1800	L	0.36672	1.1	0.09310	N	1	D;D;P;P;D;P;D;P	0.63046	0.957;0.965;0.897;0.862;0.975;0.897;0.992;0.771	P;P;B;B;P;B;P;B	0.54100	0.563;0.466;0.361;0.352;0.586;0.361;0.742;0.115	T	0.37641	-0.9697	10	0.72032	D	0.01	.	7.8065	0.29206	0.0:0.6162:0.2509:0.1329	.	593;593;311;311;311;311;628;628	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	M	548;593;593;311;628;593;443;514;311;311;311;311;311	ENSP00000365645:T548M;ENSP00000365639:T593M;ENSP00000392625:T593M;ENSP00000365637:T628M;ENSP00000365635:T593M;ENSP00000404798:T443M;ENSP00000389680:T514M;ENSP00000302343:T311M;ENSP00000379722:T311M;ENSP00000365634:T311M;ENSP00000379723:T311M	ENSP00000302343:T311M	T	+	2	0	KIAA1217	24830362	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.802000	0.27069	0.812000	0.34326	0.655000	0.94253	ACG		0.582	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24790356	C	T	24790356	3	4	35	1	0	0	0	0	1	0	0	0	8216	536	19	1	1917	1	KIAA1217	10	24790356	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		24790356	110744391	50	2207											
ARMC4	55130	broad.mit.edu	37	chr10	28229528	28229528	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgtccccaccactggAattagcatgttttcatgaga	11	12	8	10	0	1	1	1	1	0	1	2	3	2	2	3	1	2	3	3	1	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:28229528A>C	ENST00000305242.5	-	13	2042	c.1950T>G	c.(1948-1950)atT>atG	p.I650M	ARMC4_ENST00000545014.1_Missense_Mutation_p.I175M|ARMC4_ENST00000537576.1_Missense_Mutation_p.I342M	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	650					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACCACTGGAATTAGCATGT	0.473																																						uc009xky.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1948-1950)atT>atG		Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.							109	92	98					10																	28229528		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229528A>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1950T>G	10.37:g.28229528A>C	ENSP00000306410:p.Ile650Met					ARMC4_uc010qds.2_Missense_Mutation_p.I175M|ARMC4_uc010qdt.2_Missense_Mutation_p.I342M|ARMC4_uc001itz.3_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	p.I650M	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			12	2048	-			650					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1950T>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696092	0.30052	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.69040	-0.37;-0.37;-0.37	5.39	-1.33	0.09172	Armadillo-like helical (1);Armadillo-type fold (2);	0.043953	0.85682	D	0.000000	T	0.78923	0.4360	M	0.88979	2.995	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.72075	0.928;0.976	T	0.75266	-0.3378	10	0.62326	D	0.03	-28.0547	6.6319	0.22861	0.3208:0.0:0.4601:0.2191	.	175;650	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	M	342;650;175	ENSP00000443208:I342M;ENSP00000306410:I650M;ENSP00000441076:I175M	ENSP00000306410:I650M	I	-	3	3	ARMC4	28269534	0.953000	0.32496	0.284000	0.24805	0.017000	0.09413	0.053000	0.14184	-0.411000	0.07530	-0.290000	0.09829	ATT		0.473	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		C	28229528	A	C	28229528	3	2	35	1	0	0	0	0	1	0	0	0	953	242	9	5	1216	5	ARMC4	10	28229528	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	3439172	28229528	107305219	51	2208											
OR13A1	79290	broad.mit.edu	37	chr10	45799324	45799324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccacagaaatccaagcGcagcatcagccccgtgtgga	11	4	13	13	2	1	1	1	0	0	1	2	2	2	2	4	3	3	2	4	3	2	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:45799324G>A	ENST00000553795.1	-	4	855	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	OR13A1_ENST00000374401.2_Missense_Mutation_p.R183C|OR13A1_ENST00000536058.1_Missense_Mutation_p.R183C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAATCCAAGCGCAGCATCAGC	0.587																																						uc001jcc.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(547-549)Cgc>Tgc		Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.							47	50	49					10																	45799324		2203	4296	6499	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799324G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.547C>T	10.37:g.45799324G>A	ENSP00000451950:p.Arg183Cys					OR13A1_uc001jcd.1_Missense_Mutation_p.R179C|OR13A1_uc021ppq.1_Missense_Mutation_p.R183C	p.R183C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			3	856	-			183					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.547C>T	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	15.42	2.829195	0.50845	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00188	8.59;8.59;8.59	5.78	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00468	0.0015	M	0.71296	2.17	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.44283	-0.9338	10	0.62326	D	0.03	-11.6422	12.8704	0.57962	0.0:0.0:0.578:0.422	.	183	Q8NGR1	O13A1_HUMAN	C	183	ENSP00000451950:R183C;ENSP00000438657:R183C;ENSP00000363522:R183C	ENSP00000311379:R183C	R	-	1	0	OR13A1	45119330	0.000000	0.05858	0.001000	0.08648	0.759000	0.43091	0.301000	0.19174	0.755000	0.32990	0.650000	0.86243	CGC		0.587	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		A	45799324	G	A	45799324	3	1	35	1	0	0	0	0	1	0	0	0	10933	1087	38	1	443	1	OR13A1	10	45799324	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	17569796	45799324	89735423	52	2209											
DNTT	1791	broad.mit.edu	37	chr10	98079146	98079146	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtaaccagatattcaCggtaacgggactttacatca	14	10	7	10	2	2	1	2	0	0	1	2	2	2	2	1	2	4	2	1	2	5	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:98079146C>T	ENST00000371174.2	+	3	608	c.506C>T	c.(505-507)aCg>aTg	p.T169M	DNTT_ENST00000419175.1_Splice_Site_p.T169M			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	169	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGATATTCACGGTAACGGGA	0.448																																						uc001kmf.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.e3+1		Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.							136	136	136					10																	98079146		2203	4300	6503	SO:0001630	splice_region_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98079146C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.507+1C>T	10.37:g.98079146C>T						DNTT_uc001kmg.3_Splice_Site_p.T169_splice	p.T169_splice	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	3	677	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	169			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.507_splice	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087418	0.76642	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47177	0.85;0.85	5.48	5.48	0.80851	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.096682	0.64402	D	0.000001	T	0.71904	0.3395	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76113	-0.3078	10	0.87932	D	0	-14.3494	15.1965	0.73096	0.0:1.0:0.0:0.0	.	169;169	P04053-2;P04053	.;TDT_HUMAN	M	169	ENSP00000401169:T169M;ENSP00000360216:T169M	ENSP00000360216:T169M	T	+	2	0	DNTT	98069136	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.714000	0.61902	2.733000	0.93635	0.655000	0.94253	ACG		0.448	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	Missense_Mutation	T	98079146	C	T	98079146	5	4	35	1	0	0	0	0	0	0	1	0	4680	550	19	1	516	1	DNTT	10	98079146	Splice_Site	SNP	C	TCGA-06-0174-01A-01D-1491-08	52279822	98079146	37455601	53	2210											
PAX2	5076	broad.mit.edu	37	chr10	102510548	102510548	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagattgctgaatacaaaCgacagaacccgactatgttc	16	8	7	10	2	0	3	0	1	0	2	1	5	0	3	1	0	4	2	1	0	6	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:102510548C>T	ENST00000428433.1	+	3	860	c.310C>T	c.(310-312)Cga>Tga	p.R104*	PAX2_ENST00000361791.3_Nonsense_Mutation_p.R104*|PAX2_ENST00000556085.1_Nonsense_Mutation_p.R103*|PAX2_ENST00000355243.3_Nonsense_Mutation_p.R104*|PAX2_ENST00000370296.2_Nonsense_Mutation_p.R104*|PAX2_ENST00000553492.1_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	104	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAATACAAACGACAGAACCC	0.572																																						uc001krk.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(310-312)Cga>Tga		Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.							125	123	124					10																	102510548		2203	4300	6503	SO:0001587	stop_gained	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102510548C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.310C>T	10.37:g.102510548C>T	ENSP00000396259:p.Arg104*					PAX2_uc001krm.4_Nonsense_Mutation_p.R104*|PAX2_uc001krn.4_Nonsense_Mutation_p.R104*|PAX2_uc001kro.4_Nonsense_Mutation_p.R104*|PAX2_uc010qps.2_Nonsense_Mutation_p.R103*|PAX2_uc001krl.4_Nonsense_Mutation_p.R104*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	p.R104*	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	860	+		Colorectal(252;0.234)	104			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Nonsense_Mutation	SNP	ENST00000428433.1	37	c.310C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373398	0.98781	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	.	.	.	5.93	1.81	0.25067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9419	0.86220	0.6762:0.3238:0.0:0.0	.	.	.	.	X	104;104;104;104;103;104;108	.	ENSP00000347385:R104X	R	+	1	2	PAX2	102500538	0.840000	0.29493	1.000000	0.80357	0.926000	0.56050	-0.001000	0.12947	0.386000	0.24997	-1.431000	0.01090	CGA		0.572	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	102510548	C	T	102510548	4	4	35	1	0	0	0	0	0	1	0	0	11479	528	19	1	320	1	PAX2	10	102510548	Nonsense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	4431402	102510548	33024199	54	2211											
OR4C6	219432	broad.mit.edu	37	chr11	55433358	55433358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagccctctctacctgcaGctcccacctcacggtggttg	7	9	8	17	1	2	0	1	0	1	0	4	0	3	0	4	2	4	3	4	2	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:55433358G>T	ENST00000314259.3	+	1	745	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTACCTGCAGCTCCCACCTC	0.502																																						uc010rik.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(715-717)aGc>aTc		Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.							128	125	126					11																	55433358		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433358G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.716G>T	11.37:g.55433358G>T	ENSP00000324769:p.Ser239Ile						p.S239I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			0	716	+			239					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.716G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639155	0.03557	.	.	ENSG00000181903	ENST00000314259	T	0.37058	1.22	4.07	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.778991	0.10895	N	0.622235	T	0.36580	0.0972	M	0.62088	1.915	0.09310	N	0.999996	B	0.10296	0.003	B	0.15484	0.013	T	0.28364	-1.0046	10	0.26408	T	0.33	.	12.0474	0.53487	0.0:0.3332:0.6668:0.0	.	239	Q8NH72	OR4C6_HUMAN	I	239	ENSP00000324769:S239I	ENSP00000324769:S239I	S	+	2	0	OR4C6	55189934	0.000000	0.05858	0.351000	0.25721	0.059000	0.15707	-1.805000	0.01737	0.678000	0.31325	-0.336000	0.08194	AGC		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		T	55433358	G	T	55433358	3	4	35	1	0	0	0	0	1	0	0	0	11052	971	34	5	718	5	OR4C6	11	55433358	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		55433358	79573158	55	2212											
ASAM	79827	broad.mit.edu	37	chr11	122944226	122944226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggctggggatcatgctggGtgtggtttctgctttggtca	3	15	16	7	0	3	0	2	0	1	0	3	1	3	1	0	6	2	4	0	6	0	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:122944226G>T	ENST00000448775.2	-	7	1418	c.1078C>A	c.(1078-1080)Ccc>Acc	p.P360T	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	360					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ATCATGCTGGGTGTGGTTTCT	0.537																																						uc001pyt.3																			0		p.P360P(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(1078-1080)Ccc>Acc		Homo sapiens CXADR-like membrane protein (CLMP), mRNA.							300	278	285					11																	122944226		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122944226G>T	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.1078C>A	11.37:g.122944226G>T	ENSP00000405577:p.Pro360Thr						p.P360T	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN			6	1437	-			360						Missense_Mutation	SNP	ENST00000448775.2	37	c.1078C>A	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	G	5.069	0.198316	0.09652	.	.	ENSG00000166250	ENST00000448775	T	0.80304	-1.36	5.44	0.0328	0.14177	.	0.458050	0.24720	N	0.036160	T	0.70500	0.3231	M	0.64080	1.96	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.60214	-0.7307	10	0.54805	T	0.06	.	1.5545	0.02582	0.2333:0.2569:0.378:0.1318	.	360	Q9H6B4	CLMP_HUMAN	T	360	ENSP00000405577:P360T	ENSP00000405577:P360T	P	-	1	0	CLMP	122449436	0.911000	0.30947	0.005000	0.12908	0.247000	0.25773	1.897000	0.39799	-0.255000	0.09486	-0.136000	0.14681	CCC		0.537	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		T	122944226	G	T	122944226	3	4	35	1	0	0	0	0	1	0	0	0	1009	1261	44	5	47	5	ASAM	11	122944226	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	67510868	122944226	12062290	56	2213											
CD4	920	broad.mit.edu	37	chr12	6923329	6923329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccaagctgaatgatcGcgctgactcaagaagaagcc	13	7	9	12	2	1	5	1	3	0	2	4	5	3	5	3	0	2	2	3	0	5	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:6923329G>A	ENST00000011653.4	+	4	494	c.236G>A	c.(235-237)cGc>cAc	p.R79H	CD4_ENST00000541982.1_Missense_Mutation_p.R24H|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	79	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTGAATGATCGCGCTGACTCA	0.522																																						uc001qqv.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(235-237)cGc>cAc		Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.							129	127	128					12																	6923329		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923329G>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.236G>A	12.37:g.6923329G>A	ENSP00000011653:p.Arg79His					CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Missense_Mutation_p.R24H|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	p.R79H	NM_000616	NP_000607	P01730	CD4_HUMAN			3	494	+		Myeloproliferative disorder(1001;0.0122)	79			Ig-like V-type.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.236G>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507308	0.64410	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.67698	-0.28;0.01	5.43	4.54	0.55810	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.702752	0.13768	N	0.364078	T	0.81269	0.4787	M	0.80183	2.485	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.70536	-0.4845	10	0.87932	D	0	-4.71	10.0124	0.41995	0.0926:0.0:0.9074:0.0	.	24;79	F5H480;P01730	.;CD4_HUMAN	H	79;24	ENSP00000011653:R79H;ENSP00000445167:R24H	ENSP00000011653:R79H	R	+	2	0	CD4	6793590	0.203000	0.23435	0.010000	0.14722	0.002000	0.02628	2.935000	0.48963	1.296000	0.44742	0.462000	0.41574	CGC		0.522	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		A	6923329	G	A	6923329	3	1	35	1	0	0	0	0	1	0	0	0	3014	1087	38	1	246	1	CD4	12	6923329	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		6923329	126928566	57	2214											
PHC1	1911	broad.mit.edu	37	chr12	9087006	9087006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacccccacaggccatcGtgaagccccagattctcacc	12	5	6	18	1	1	2	1	1	1	1	3	2	1	2	6	1	2	0	6	1	3	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:9087006G>A	ENST00000543824.1	+	11	2517	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PHC1_ENST00000433083.2_Missense_Mutation_p.V684M|PHC1_ENST00000544916.1_Missense_Mutation_p.V729M|PHC1_ENST00000536844.1_Missense_Mutation_p.V335M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	729					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACAGGCCATCGTGAAGCCCCA	0.542																																						uc001qvd.3																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2185-2187)Gtg>Atg		Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.							65	64	65					12																	9087006		2203	4292	6495	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087006G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2185G>A	12.37:g.9087006G>A	ENSP00000440674:p.Val729Met					PHC1_uc001qve.3_Missense_Mutation_p.V729M	p.V729M	NM_004426	NP_004417	P78364	PHC1_HUMAN			9	2341	+			729					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2185G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502640	0.64298	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.75459	0.3852	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76790	-0.2829	10	0.87932	D	0	-21.4625	19.8914	0.96931	0.0:0.0:1.0:0.0	.	729	P78364	PHC1_HUMAN	M	729;729;684;729;335	ENSP00000440674:V729M;ENSP00000251757:V729M;ENSP00000399194:V684M;ENSP00000437659:V729M;ENSP00000440488:V335M	ENSP00000251757:V729M	V	+	1	0	PHC1	8978273	1.000000	0.71417	0.993000	0.49108	0.834000	0.47266	9.421000	0.97455	2.813000	0.96785	0.655000	0.94253	GTG		0.542	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		A	9087006	G	A	9087006	3	1	35	1	0	0	0	0	1	0	0	0	11816	1145	40	1	2219	1	PHC1	12	9087006	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	2163677	9087006	124764889	58	2215											
BICD1	636	broad.mit.edu	37	chr12	32491868	32491868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgaattcatccaaGggcaccggctcagcaaggaa	13	6	11	11	1	2	2	2	2	0	0	3	3	3	3	3	3	1	3	3	3	4	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:32491868G>C	ENST00000281474.5	+	8	2822	c.2719G>C	c.(2719-2721)Ggg>Cgg	p.G907R	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	907					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATTCATCCAAGGGCACCGGCT	0.463																																						uc001rku.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2719-2721)Ggg>Cgg		Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.							66	73	71					12																	32491868		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32491868G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2719G>C	12.37:g.32491868G>C	ENSP00000281474:p.Gly907Arg					BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	p.G907R	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		7	2800	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		907					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2719G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859568	0.71834	.	.	ENSG00000151746	ENST00000281474	T	0.55760	0.5	5.6	5.6	0.85130	.	0.000000	0.47852	D	0.000208	T	0.48840	0.1522	N	0.08118	0	0.80722	D	1	D	0.60160	0.987	P	0.54544	0.755	T	0.59440	-0.7454	10	0.87932	D	0	.	17.7978	0.88578	0.0:0.0:1.0:0.0	.	907	Q96G01	BICD1_HUMAN	R	907	ENSP00000281474:G907R	ENSP00000281474:G907R	G	+	1	0	BICD1	32383135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.808000	0.69165	2.658000	0.90341	0.591000	0.81541	GGG		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		C	32491868	G	C	32491868	3	2	35	1	0	0	0	0	1	0	0	0	1428	1000	35	5	2749	5	BICD1	12	32491868	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	23404862	32491868	101360027	59	2216											
BCDIN3D	144233	broad.mit.edu	37	chr12	50232500	50232500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccaggaactcccataggCcatggtctccatgattcaga	10	8	11	12	0	2	2	1	1	1	1	4	3	3	3	4	4	1	0	4	4	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:50232500C>T	ENST00000333924.4	-	2	574	c.533G>A	c.(532-534)gGc>gAc	p.G178D	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	178	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTCCCATAGGCCATGGTCTCC	0.512											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvh.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(532-534)gGc>gAc		Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.							98	83	88					12																	50232500		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50232500C>T		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.533G>A	12.37:g.50232500C>T	ENSP00000335201:p.Gly178Asp		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	p.G178D	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN			1	575	-			178			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.533G>A	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669565	0.67814	.	.	ENSG00000186666	ENST00000333924	T	0.74315	-0.83	5.42	3.57	0.40892	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.094101	0.64402	D	0.000001	D	0.86843	0.6030	M	0.92219	3.285	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.87004	0.2118	10	0.87932	D	0	.	8.8117	0.34971	0.1495:0.7708:0.0:0.0797	.	178	Q7Z5W3	BN3D2_HUMAN	D	178	ENSP00000335201:G178D	ENSP00000335201:G178D	G	-	2	0	BCDIN3D	48518767	1.000000	0.71417	0.274000	0.24659	0.984000	0.73092	4.298000	0.59067	0.760000	0.33108	0.591000	0.81541	GGC		0.512	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		T	50232500	C	T	50232500	3	4	35	1	0	0	0	0	1	0	0	0	1357	739	26	3	349	3	BCDIN3D	12	50232500	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	17740632	50232500	83619395	60	2217											
ATF7	11016	broad.mit.edu	37	chr12	53928392	53928392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcagggagccaggacGtacaatggtgggtgtggggg	9	5	22	5	1	0	1	0	0	0	1	0	4	0	3	1	7	2	2	1	7	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:53928392G>A	ENST00000548446.2	-	6	599	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ATF7_ENST00000456903.4_Missense_Mutation_p.R152C|ATF7_ENST00000420353.2_Missense_Mutation_p.R152C|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R152C|ATF7_ENST00000328463.7_Missense_Mutation_p.R163C|ATF7_ENST00000415113.1_Missense_Mutation_p.R131C			P17544	ATF7_HUMAN	activating transcription factor 7	163	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GAGCCAGGACGTACAATGGTG	0.512																																						uc001sdy.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(487-489)Cgt>Tgt		Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.							116	124	121					12																	53928392		1995	4165	6160	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53928392G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.487C>T	12.37:g.53928392G>A	ENSP00000449938:p.Arg163Cys					ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R152C|ATF7_uc010sol.2_Missense_Mutation_p.R131C	p.R163C	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			4	508	-			163			Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.487C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.838990	0.91117	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.78;0.78	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.933;0.985;0.99	T	0.66308	-0.5956	10	0.46703	T	0.11	-30.6884	15.9044	0.79412	0.0:0.0:1.0:0.0	.	131;152;163	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	C	163;163;131;152;152	ENSP00000449938:R163C;ENSP00000329212:R163C;ENSP00000404880:R131C;ENSP00000399465:R152C;ENSP00000387406:R152C	ENSP00000329212:R163C	R	-	1	0	ATF7	52214659	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.022000	0.93678	2.350000	0.79820	0.561000	0.74099	CGT		0.512	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		A	53928392	G	A	53928392	3	1	35	1	0	0	0	0	1	0	0	0	1086	1145	40	1	1025	1	ATF7	12	53928392	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	3695892	53928392	79923503	61	2218											
AVIL	10677	broad.mit.edu	37	chr12	58207190	58207190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcctgggataggagaCtggccactctccgggtctgg	6	9	16	10	1	2	1	0	0	2	1	4	4	3	3	3	6	0	0	3	6	1	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:58207190C>T	ENST00000257861.3	-	3	588	c.158G>A	c.(157-159)aGt>aAt	p.S53N	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.S46N	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	53	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATAGGAGACTGGCCACTCT	0.582																																						uc001sqj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(157-159)aGt>aAt		Homo sapiens advillin (AVIL), mRNA.							69	64	65					12																	58207190		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207190C>T	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.158G>A	12.37:g.58207190C>T	ENSP00000257861:p.Ser53Asn					AVIL_uc009zqe.2_Missense_Mutation_p.S46N|AVIL_uc001sql.4_Missense_Mutation_p.S30N	p.S53N	NM_006576	NP_006567	O75366	AVIL_HUMAN			2	187	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		53			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.158G>A	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	0.775	-0.764400	0.02996	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.17213	2.29;2.29;2.29	4.73	2.9	0.33743	Gelsolin domain (1);	0.514735	0.23560	N	0.046874	T	0.07728	0.0194	N	0.11255	0.115	0.09310	N	0.999995	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.17722	0.005;0.001;0.019	T	0.36456	-0.9747	10	0.19590	T	0.45	-1.1988	6.4968	0.22146	0.0:0.6781:0.1509:0.1709	.	46;53;53	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	N	46;53;53	ENSP00000443207:S46N;ENSP00000257861:S53N;ENSP00000449239:S53N	ENSP00000257861:S53N	S	-	2	0	AVIL	56493457	0.284000	0.24287	0.132000	0.22025	0.402000	0.30811	0.915000	0.28638	0.716000	0.32124	0.655000	0.94253	AGT		0.582	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		T	58207190	C	T	58207190	3	4	35	1	0	0	0	0	1	0	0	0	1227	565	20	3	2369	3	AVIL	12	58207190	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	4278798	58207190	75644705	62	2219											
CPSF6	11052	broad.mit.edu	37	chr12	69653833	69653833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccctcacaggtgattatgGgagtgctattgagacactgg	9	12	12	8	0	1	2	1	2	0	1	2	4	2	3	1	3	1	1	1	3	2	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:69653833G>T	ENST00000435070.2	+	8	1435	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.G369V|CPSF6_ENST00000266679.8_Missense_Mutation_p.G479V	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	442					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.353																																						uc001sut.4																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1324-1326)gGg>gTg		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							121	121	121					12																	69653833		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653833G>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1325G>T	12.37:g.69653833G>T	ENSP00000391774:p.Gly442Val					CPSF6_uc001suu.4_Missense_Mutation_p.G479V|CPSF6_uc010stk.2_Missense_Mutation_p.G73V	p.G442V	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		7	1435	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		442					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1325G>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580329	0.86645	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.87887	-2.31;-2.31;-2.31	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	L	0.38175	1.15	0.80722	D	1	P;P;D	0.89917	0.642;0.784;1.0	B;P;D	0.87578	0.331;0.651;0.998	D	0.88738	0.3241	9	.	.	.	-7.2017	20.2626	0.98452	0.0:0.0:1.0:0.0	.	190;479;442	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	V	442;369;479	ENSP00000391774:G442V;ENSP00000391437:G369V;ENSP00000266679:G479V	.	G	+	2	0	CPSF6	67940100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGG		0.353	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		T	69653833	G	T	69653833	3	4	35	1	0	0	0	0	1	0	0	0	3829	1232	43	5	1355	5	CPSF6	12	69653833	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	11446643	69653833	64198062	63	2220											
NOS1	4842	broad.mit.edu	37	chr12	117718572	117718572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccccagggtggagccGtcaggctgcttgtagccagc	5	7	16	13	1	1	0	1	0	0	0	2	1	2	1	4	4	4	3	4	4	1	2	rs181652902	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:117718572G>A	ENST00000338101.4	-	7	1486	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000317775.6_Silent_p.D494D|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGGTGGAGCCGTCAGGCTGCT	0.617													G|||	9	0.00179712	0	0	5008	,	,		16428	0.0089		0	False		,,,				2504	0				Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			2	Substitution - coding silent(2)	p.D494D(4)	lung(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1480-1482)gaC>gaT		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)	G	,,,	0,4122		0,0,2061	45	57	53		1482,474,474,1482	-10.3	0	12		53	3,8461		0,3,4229	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,3,6290	AA,AG,GG		0.0354,0.0,0.0238	,,,	494/1435,158/1099,158/1099,494/1469	117718572	3,12583	2061	4232	6293	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117718572G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1482C>T	12.37:g.117718572G>A						NOS1_uc021ren.1_Silent_p.D158D|NOS1_uc021reo.1_Silent_p.D158D|NOS1_uc001twm.2_Silent_p.D494D	p.D494D	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	7	2193	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		494						Silent	SNP	ENST00000338101.4	37	c.1482C>T	CCDS55890.1																																																																																				0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117718572	G	A	117718572	2	1	35	1	0	0	0	0	0	0	0	1	10541	1136	40	1		1	NOS1	12	117718572	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	48064739	117718572	16133323	64	2221											
TMEM132B	114795	broad.mit.edu	37	chr12	126004117	126004117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgagtgagctggtcgtCtccgagatcttcgtcagcca	7	11	11	12	3	3	3	1	2	2	1	7	4	4	3	3	1	2	1	3	1	0	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:126004117C>T	ENST00000299308.3	+	4	1232	c.1224C>T	c.(1222-1224)gtC>gtT	p.V408V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	408						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCTGGTCGTCTCCGAGATCT	0.532																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1222-1224)gtC>gtT		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							102	102	102					12																	126004117		1954	4138	6092	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126004117C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1224C>T	12.37:g.126004117C>T						TMEM132B_uc021rgl.1_Silent_p.V298V	p.V408V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	3	1232	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		408					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1224C>T	CCDS41859.1																																																																																				0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126004117	C	T	126004117	2	4	35	1	0	0	0	0	0	0	0	1	16043	900	32	3		3	TMEM132B	12	126004117	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	8285545	126004117	7847778	65	2222											
GLT1D1	144423	broad.mit.edu	37	chr12	129360558	129360558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttggctgagaactgCgaggctgccctggctcttca	6	11	11	13	1	4	1	2	1	2	1	4	3	4	1	1	3	3	3	1	3	1	2	rs144231014		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:129360558C>T	ENST00000442111.2	+	2	256	c.168C>T	c.(166-168)tgC>tgT	p.C56C	GLT1D1_ENST00000537468.1_Silent_p.C45C|GLT1D1_ENST00000281703.6_Silent_p.C56C|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	56					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGAGAACTGCGAGGCTGCCC	0.483																																						uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(133-135)tgC>tgT		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.		C		3,4403	6.2+/-15.9	0,3,2200	153	156	155		168	-10	0	12	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	GLT1D1	NM_144669.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		56/267	129360558	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360558C>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.168C>T	12.37:g.129360558C>T						GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.C45C	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	144	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		56					Q86XG8	Silent	SNP	ENST00000442111.2	37	c.135C>T																																																																																					0.483	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		T	129360558	C	T	129360558	2	4	35	1	0	0	0	0	0	0	0	1	6465	776	27	1		1	GLT1D1	12	129360558	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	3356441	129360558	4491337	66	2223											
ZMYM5	9205	broad.mit.edu	37	chr13	20409775	20409775	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctgtacttattaaagcAatggttactgcacagtttat	13	15	6	7	0	1	0	0	0	1	0	1	0	1	0	0	1	4	5	0	1	8	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:20409775A>G	ENST00000337963.4	-	7	1357	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	365						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTATTAAAGCAATGGTTACTG	0.363																																						uc010tcn.1																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1093-1095)Tgc>Cgc		Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.							154	132	139					13																	20409775		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20409775A>G	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1093T>C	13.37:g.20409775A>G	ENSP00000337034:p.Cys365Arg					ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	p.C365R	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	6	1358	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	365					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1093T>C		.	.	.	.	.	.	.	.	.	.	A	21.5	4.155621	0.78114	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.78003	-1.12;-1.14	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88104	0.2821	10	0.87932	D	0	-4.2739	14.9478	0.71047	1.0:0.0:0.0:0.0	.	365	Q9UJ78	ZMYM5_HUMAN	R	365;355	ENSP00000337034:C365R;ENSP00000445779:C355R	ENSP00000337034:C365R	C	-	1	0	ZMYM5	19307775	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.680000	0.91225	2.176000	0.68965	0.454000	0.30748	TGC		0.363	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		G	20409775	A	G	20409775	3	3	35	1	0	0	0	0	1	0	0	0	17700	130	5	4	924	4	ZMYM5	13	20409775	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08		20409775	94760103	67	2224											
NBEA	26960	broad.mit.edu	37	chr13	35730325	35730325	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgataaaacttttcagtaAcagccgtgaaaatagaaggt	17	11	8	5	1	1	3	1	2	0	1	1	3	1	3	1	1	3	1	1	1	8	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:35730325A>C	ENST00000400445.3	+	20	3167	c.2633A>C	c.(2632-2634)aAc>aCc	p.N878T	NBEA_ENST00000540320.1_Missense_Mutation_p.N878T|NBEA_ENST00000379939.2_Missense_Mutation_p.N878T|NBEA_ENST00000310336.4_Missense_Mutation_p.N878T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	878					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTTCAGTAACAGCCGTGAA	0.313																																						uc021rid.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(2632-2634)aAc>aCc		Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.							25	24	24					13																	35730325		1812	4072	5884	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35730325A>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2633A>C	13.37:g.35730325A>C	ENSP00000383295:p.Asn878Thr					NBEA_uc021ric.1_Missense_Mutation_p.N878T	p.N878T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	19	3167	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	878					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.2633A>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544827	0.45280	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.85	5.85	0.93711	.	0.050025	0.85682	D	0.000000	T	0.24392	0.0591	L	0.53249	1.67	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.01587	-1.1318	10	0.41790	T	0.15	.	16.2948	0.82765	1.0:0.0:0.0:0.0	.	878	Q5T321	.	T	878	ENSP00000440951:N878T;ENSP00000383295:N878T;ENSP00000369271:N878T;ENSP00000308534:N878T	ENSP00000308534:N878T	N	+	2	0	NBEA	34628325	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.881000	0.69706	2.253000	0.74438	0.456000	0.33151	AAC		0.313	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	35730325	A	C	35730325	3	2	35	1	0	0	0	0	1	0	0	0	10187	43	2	5	2711	5	NBEA	13	35730325	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	15320550	35730325	79439553	68	2225											
SCEL	8796	broad.mit.edu	37	chr13	78176839	78176839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgccaggatgaataaaaCgagcagaaggtgagaactga	18	5	13	5	1	0	4	0	3	0	2	0	8	0	5	1	2	4	1	1	2	6	1	rs144213801		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:78176839C>T	ENST00000349847.3	+	17	1112	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	SCEL_ENST00000535157.1_Missense_Mutation_p.T321M|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Missense_Mutation_p.T323M	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	343	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATGAATAAAACGAGCAGAAGG	0.348													c|||	1	0.000199681	0	0	5008	,	,		18101	0		0	False		,,,				2504	0.001					uc001vki.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(1027-1029)aCg>aTg		Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.		T	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	128	134	132		962,968,1028	-1.4	0	13	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SCEL	NM_001160706.1,NM_003843.3,NM_144777.2	81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	321/647,323/669,343/689	78176839	2,13004	2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78176839C>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1028C>T	13.37:g.78176839C>T	ENSP00000302579:p.Thr343Met					SCEL_uc010thx.2_Missense_Mutation_p.T321M|SCEL_uc001vkj.3_Missense_Mutation_p.T323M	p.T343M	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	16	1198	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	343			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1028C>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	c	7.819	0.717453	0.15372	0.0	2.33E-4	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24151	1.87;1.87;1.87	3.93	-1.42	0.08913	.	1.441670	0.04604	N	0.399068	T	0.21801	0.0525	L	0.57536	1.79	0.09310	N	1	B;B;B	0.15473	0.004;0.013;0.004	B;B;B	0.11329	0.003;0.006;0.004	T	0.29027	-1.0025	10	0.37606	T	0.19	0.8378	0.5737	0.00700	0.1757:0.3312:0.1718:0.3212	.	321;323;343	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	M	321;323;343	ENSP00000437895:T321M;ENSP00000366454:T323M;ENSP00000302579:T343M	ENSP00000302579:T343M	T	+	2	0	SCEL	77074840	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.016000	0.03633	-0.126000	0.11682	-0.119000	0.15052	ACG		0.348	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		T	78176839	C	T	78176839	3	4	35	1	0	0	0	0	1	0	0	0	13888	536	19	1	1090	1	SCEL	13	78176839	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	42446514	78176839	36993039	69	2226											
HECTD1	25831	broad.mit.edu	37	chr14	31582555	31582555	+	Frame_Shift_Del	DEL	C	C	-																															cagaagctgaaggacatcttCtactccacaagagttctgtc																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:31582555delC	ENST00000399332.1	-	33	6480	c.5992delG	c.(5992-5994)gaafs	p.E1998fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.E1998fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1998					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGACATCTTCTACTCCACAA	0.403																																						uc001wrc.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5992-5994)gaafs		Homo sapiens HECT domain containing 1 (HECTD1), mRNA.							164	160	161					14																	31582555		1864	4104	5968	SO:0001589	frameshift_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31582555delC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5992delG	14.37:g.31582555delC	ENSP00000382269:p.Glu1998fs					HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs	p.E1998fs	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	32	6481	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1998					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Del	DEL	ENST00000399332.1	37	c.5992delG	CCDS41939.1																																																																																				0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			-	31582555	C	-	31582555	7	5	35	1	0	1	0	1	0	0	0	0	7039	922	32	0	1884	0	HECTD1	14	31582555	Frame_Shift_Del	DEL	C	TCGA-06-0174-01A-01D-1491-08		31582555	75766985	70	2227											
RPL10L	140801	broad.mit.edu	37	chr14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtaacagcgagctggaCggcgccccatggcgacacag	10	3	14	14	5	0	0	0	0	0	0	0	3	0	1	3	4	3	2	3	4	1	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:47120929C>T	ENST00000298283.3	-	1	99	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	4					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557																																						uc001wwg.3																			0		p.R4S(2)|p.R3R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(10-12)cGt>cAt		Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.							67	71	70					14																	47120929		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120929C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.11G>A	14.37:g.47120929C>T	ENSP00000298283:p.Arg4His						p.R4H	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			0	100	-			4					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.11G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768815	0.31320	.	.	ENSG00000165496	ENST00000298283	T	0.77877	-1.13	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (1);	0.060938	0.64402	D	0.000004	T	0.81749	0.4888	M	0.92691	3.335	0.58432	D	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.82348	-0.0502	10	0.66056	D	0.02	-25.8262	12.6152	0.56573	0.0:1.0:0.0:0.0	.	4	Q96L21	RL10L_HUMAN	H	4	ENSP00000298283:R4H	ENSP00000298283:R4H	R	-	2	0	RPL10L	46190679	0.990000	0.36364	0.972000	0.41901	0.223000	0.24884	3.208000	0.51114	2.688000	0.91661	0.655000	0.94253	CGT		0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			T	47120929	C	T	47120929	3	4	35	1	0	0	0	0	1	0	0	0	13556	536	19	1	637	1	RPL10L	14	47120929	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	15538374	47120929	60228611	71	2228											
ACYP1	97	broad.mit.edu	37	chr14	75520272	75520272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattcctgcatatgacgcaCcttggagatgggaccttgca	9	10	10	12	1	0	2	0	1	0	1	1	4	1	3	4	2	2	3	4	2	1	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:75520272C>T	ENST00000238618.3	-	3	278	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000355774.2_5'Flank|MLH3_ENST00000556257.1_5'Flank|ACYP1_ENST00000555694.1_Missense_Mutation_p.V59M|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000357971.3_3'UTR|ACYP1_ENST00000555463.1_Missense_Mutation_p.V89M	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	59	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		ATATGACGCACCTTGGAGATG	0.478																																						uc001xrg.3																			0				large_intestine(2)	2						c.(175-177)Gtg>Atg		Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA.							249	222	231					14																	75520272		2203	4300	6503	SO:0001583	missense	97				phosphate metabolic process		acylphosphatase activity	g.chr14:75520272C>T	X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.175G>A	14.37:g.75520272C>T	ENSP00000238618:p.Val59Met					MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.3_3'UTR	p.V59M	NM_001107	NP_001098	P07311	ACYP1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00646)	2	263	-			59			Acylphosphatase-like.		A6NDV8|B2R590	Missense_Mutation	SNP	ENST00000238618.3	37	c.175G>A	CCDS9838.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795153	0.90453	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.73	5.73	0.89815	Acylphosphatase-like (3);	0.130135	0.51477	D	0.000084	D	0.82701	0.5094	.	.	.	0.80722	D	1	D	0.58620	0.983	D	0.69654	0.965	T	0.82772	-0.0292	8	0.54805	T	0.06	-4.3745	19.9568	0.97222	0.0:1.0:0.0:0.0	.	59	P07311	ACYP1_HUMAN	M	59;89;59	.	ENSP00000238618:V59M	V	-	1	0	ACYP1	74590025	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.323000	0.79105	2.729000	0.93468	0.460000	0.39030	GTG		0.478	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1			T	75520272	C	T	75520272	3	4	35	1	0	0	0	0	1	0	0	0	228	507	18	3	128	3	ACYP1	14	75520272	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	28399343	75520272	31829268	72	2229											
AHNAK2	113146	broad.mit.edu	37	chr14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctccacgtcgggggccGtcacgtccgtcttcgggcct	4	8	12	17	6	2	0	1	0	1	0	6	0	4	0	5	3	0	0	5	3	0	1	rs374657511		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:105412495G>A	ENST00000333244.5	-	7	9412	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9292-9294)aCg>aTg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							117	112	113					14																	105412495		1912	4100	6012	SO:0001583	missense	113146					nucleus		g.chr14:105412495G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9293C>T	14.37:g.105412495G>A	ENSP00000353114:p.Thr3098Met					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	p.T3098M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	9413	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3098					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9293C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	4.172	0.030391	0.08101	.	.	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.5	0.422	0.16457	.	.	.	.	.	T	0.00608	0.0020	L	0.42744	1.35	0.09310	N	1	P	0.40000	0.698	B	0.25614	0.062	T	0.49560	-0.8927	9	0.48119	T	0.1	.	2.4815	0.04588	0.2023:0.3768:0.3061:0.1148	.	3098	Q8IVF2	AHNK2_HUMAN	M	3098	ENSP00000353114:T3098M	ENSP00000353114:T3098M	T	-	2	0	AHNAK2	104483540	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.342000	0.00505	0.101000	0.17610	-0.642000	0.03964	ACG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105412495	G	A	105412495	3	1	35	1	0	0	0	0	1	0	0	0	415	1145	40	1	8098	1	AHNAK2	14	105412495	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	29892223	105412495	1937045	73	2230											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111153	42111153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagggcttctggacccaaCcggtgagaacagaatgtggg	12	6	14	9	1	1	2	0	1	1	2	1	4	1	3	2	4	2	1	2	4	4	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:42111153C>T	ENST00000456763.2	+	21	2503	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MAPKBP1_ENST00000260357.7_Silent_p.N602N|MAPKBP1_ENST00000514566.1_Silent_p.N763N|MAPKBP1_ENST00000457542.2_Silent_p.N763N|MAPKBP1_ENST00000221214.6_Silent_p.N646N	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	769								p.N763N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGACCCAACCGGTGAGAAC	0.607																																						uc001zok.4																			1	Substitution - coding silent(1)	p.N763N(1)	central_nervous_system(1)	breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2305-2307)aaC>aaT		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							60	55	57					15																	42111153		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42111153C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2307C>T	15.37:g.42111153C>T						MAPKBP1_uc010bci.3_Silent_p.N763N|MAPKBP1_uc010udb.2_Silent_p.N602N|MAPKBP1_uc001zoj.4_Silent_p.N763N|MAPKBP1_uc010bcj.3_Silent_p.N270N|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.N270N	p.N769N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	20	2593	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	769					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.2307C>T	CCDS45239.1																																																																																				0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		T	42111153	C	T	42111153	2	4	35	1	0	0	0	0	0	0	0	1	9292	506	18	3		3	MAPKBP1	15	42111153	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		42111153	60420239	74	2231											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653907	43653907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccaagcaaggtctctgTtgacttaggacttcacttaa	10	13	7	11	0	3	1	1	1	2	0	5	2	3	2	1	2	1	2	1	2	4	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:43653907T>G	ENST00000396976.2	-	5	2057	c.1923A>C	c.(1921-1923)caA>caC	p.Q641H	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.Q252H|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.Q251H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	641					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGGTCTCTGTTGACTTAGGA	0.473																																						uc001zrk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1921-1923)caA>caC		Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.							167	167	167					15																	43653907		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43653907T>G	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1923A>C	15.37:g.43653907T>G	ENSP00000380174:p.Gln641His					ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	p.Q641H	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	4	2070	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	641					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1923A>C	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.184923	0.00305	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.08008	3.18;3.14	4.57	0.788	0.18601	.	0.331676	0.26844	N	0.022201	T	0.01222	0.0040	N	0.00185	-1.9	0.22081	N	0.999375	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42515	-0.9447	10	0.02654	T	1	-0.0051	2.9861	0.05969	0.492:0.0:0.1827:0.3253	.	252;641	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	H	641;252	ENSP00000380174:Q641H;ENSP00000380170:Q252H	ENSP00000380170:Q252H	Q	-	3	2	ZSCAN29	41441199	0.997000	0.39634	0.377000	0.26055	0.413000	0.31143	0.872000	0.28037	0.021000	0.15133	-1.273000	0.01405	CAA		0.473	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		G	43653907	T	G	43653907	3	3	35	1	0	0	0	0	1	0	0	0	18233	1722	60	5	639	5	ZSCAN29	15	43653907	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	1542754	43653907	58877485	75	2232											
SSTR5	6755	broad.mit.edu	37	chr16	1129417	1129417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcggacgtgcaggagggCggtacctgcaacgccagctg	7	6	16	12	5	0	0	0	0	0	0	1	2	0	2	2	4	5	4	2	4	2	2	rs375313304	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5_ENST00000397547.2_Silent_p.G183G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCAGGAGGGCGGTACCTGCA	0.716													C|||	2	0.000399361	0.0015	0	5008	,	,		13414	0		0	False		,,,				2504	0					uc021taf.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(547-549)ggC>ggT		Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	Octreotide(DB00104)	C	,	4,4340		0,4,2168	19	23	22		549,549	1.3	1	16		22	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,4,6447	TT,TC,CC		0.0,0.0921,0.031	,	183/365,183/365	1129417	4,12898	2172	4279	6451	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129417C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.549C>T	16.37:g.1129417C>T						LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.G183G	p.G183G	NM_001172560	NP_001166031	P35346	SSR5_HUMAN			1	620	+		Hepatocellular(780;0.00369)	183					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.549C>T	CCDS10429.1																																																																																				0.716	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			T	1129417	C	T	1129417	2	4	35	1	0	0	0	0	0	0	0	1	15200	755	27	1		1	SSTR5	16	1129417	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		1129417	89225336	76	2233											
TMC5	79838	broad.mit.edu	37	chr16	19451842	19451842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttggctccttagaacCggactaccctggagctcaga	9	11	9	12	1	2	2	2	0	0	2	3	4	3	4	3	3	3	2	3	3	3	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:19451842C>T	ENST00000396229.2	+	3	1231	c.482C>T	c.(481-483)cCg>cTg	p.P161L	TMC5_ENST00000542583.2_Missense_Mutation_p.P161L|TMC5_ENST00000381414.4_Missense_Mutation_p.P161L|TMC5_ENST00000541464.1_Missense_Mutation_p.P161L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	161					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTTAGAACCGGACTACCCT	0.478																																						uc002dgc.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(481-483)cCg>cTg		Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.							168	162	164					16																	19451842		1916	4139	6055	SO:0001583	missense	79838					integral to membrane		g.chr16:19451842C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.482C>T	16.37:g.19451842C>T	ENSP00000379531:p.Pro161Leu					TMC5_uc010vaq.2_Missense_Mutation_p.P161L|TMC5_uc002dgb.4_Missense_Mutation_p.P161L|TMC5_uc010var.2_Missense_Mutation_p.P161L	p.P161L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			2	1231	+			161					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.482C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538642	0.65085	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	D;T;D;D	0.81739	-1.53;-1.33;-1.52;-1.52	4.48	4.48	0.54585	.	2.559390	0.01345	N	0.011705	D	0.87728	0.6250	M	0.73962	2.25	0.44302	D	0.997175	D;D;D	0.64830	0.994;0.991;0.994	P;P;P	0.52066	0.689;0.492;0.689	T	0.78826	-0.2051	10	0.87932	D	0	-12.5511	12.9623	0.58466	0.0:1.0:0.0:0.0	.	161;161;161	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	L	161	ENSP00000441227:P161L;ENSP00000370822:P161L;ENSP00000379531:P161L;ENSP00000446274:P161L	ENSP00000370822:P161L	P	+	2	0	TMC5	19359343	0.988000	0.35896	0.999000	0.59377	0.762000	0.43233	3.018000	0.49625	2.779000	0.95612	0.591000	0.81541	CCG		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		T	19451842	C	T	19451842	3	4	35	1	0	0	0	0	1	0	0	0	15985	652	23	2	484	2	TMC5	16	19451842	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	18322425	19451842	70902911	77	2234											
OTOA	146183	broad.mit.edu	37	chr16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgtctcaggaacctaCgacatactcccttttcctat	11	12	6	12	1	1	1	1	0	1	1	4	4	3	2	3	1	3	0	3	1	5	5	rs144912852		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:21689852C>T	ENST00000286149.4	+	1	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	OTOA_ENST00000388958.3_Missense_Mutation_p.T6M			Q7RTW8	OTOAN_HUMAN	otoancorin	6					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(16-18)aCg>aTg		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.		C	MET/THR	1,4397	2.1+/-5.4	0,1,2198	109	94	99		17	-1	0	16	dbSNP_134	99	0,8600		0,0,4300	no	missense	OTOA	NM_144672.3	81	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	6/1140	21689852	1,12997	2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21689852C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.17C>T	16.37:g.21689852C>T	ENSP00000286149:p.Thr6Met					LOC23117_uc021tel.1_Intron	p.T6M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	0	18	+			6					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.17C>T		.	.	.	.	.	.	.	.	.	.	C	7.347	0.622176	0.14193	2.27E-4	0.0	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.64085	-0.08;-0.08	5.77	-1.03	0.10102	.	0.513347	0.20429	N	0.092515	T	0.36386	0.0965	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.20739	-1.0266	10	0.56958	D	0.05	-0.399	9.9341	0.41541	0.0:0.1487:0.5597:0.2916	.	6	E9PF51	.	M	6	ENSP00000373610:T6M;ENSP00000286149:T6M	ENSP00000286149:T6M	T	+	2	0	OTOA	21597353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.319000	0.19522	-0.386000	0.07821	-1.595000	0.00837	ACG		0.373	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			T	21689852	C	T	21689852	3	4	35	1	0	0	0	0	1	0	0	0	11302	536	19	1	19	1	OTOA	16	21689852	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	2238010	21689852	68664901	78	2235											
GTF3C1	2975	broad.mit.edu	37	chr16	27518426	27518426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctctcctctgcaaacaCgcaggaaatgtacttggtgg	9	10	11	11	2	2	0	0	0	2	0	4	1	2	1	1	3	3	4	1	3	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:27518426C>T	ENST00000356183.4	-	9	1309	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V432M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	432					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTGCAAACACGCAGGAAATG	0.552																																						uc002dov.2																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1294-1296)Gtg>Atg		Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.							72	68	69					16																	27518426		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518426C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1294G>A	16.37:g.27518426C>T	ENSP00000348510:p.Val432Met					GTF3C1_uc002dou.3_Missense_Mutation_p.V432M	p.V432M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			8	1334	-			432					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1294G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774168	0.69992	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24350	1.86	4.92	4.92	0.64577	.	0.461117	0.22819	N	0.055246	T	0.29716	0.0742	N	0.24115	0.695	0.27791	N	0.942811	D;D	0.65815	0.991;0.995	P;P	0.56700	0.488;0.804	T	0.06789	-1.0807	10	0.49607	T	0.09	-5.5094	12.5806	0.56388	0.0:0.9177:0.0:0.0823	.	432;432	Q12789;Q12789-3	TF3C1_HUMAN;.	M	432;430	ENSP00000348510:V432M	ENSP00000348510:V432M	V	-	1	0	GTF3C1	27425927	0.992000	0.36948	0.980000	0.43619	0.986000	0.74619	3.231000	0.51294	2.282000	0.76494	0.650000	0.86243	GTG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27518426	C	T	27518426	3	4	35	1	0	0	0	0	1	0	0	0	6872	536	19	1	5151	1	GTF3C1	16	27518426	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	5828574	27518426	62836327	79	2236											
MFSD6L	162387	broad.mit.edu	37	chr17	8701786	8701786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattggctggattcccgggcCctttccccccaggaagcaag	8	8	11	14	1	0	0	0	0	0	0	2	2	2	2	5	4	1	2	5	4	3	3	rs372535656		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:8701786C>A	ENST00000329805.4	-	1	881	c.653G>T	c.(652-654)gGg>gTg	p.G218V		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	218						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATTCCCGGGCCCTTTCCCCCC	0.577																																						uc002glp.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(652-654)gGg>gTg		Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.							64	72	69					17																	8701786		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701786C>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.653G>T	17.37:g.8701786C>A	ENSP00000330051:p.Gly218Val						p.G218V	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			0	882	-			218					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.653G>T	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539451	0.27475	.	.	ENSG00000185156	ENST00000329805	T	0.42900	0.96	4.86	-9.59	0.00556	.	1.606170	0.03997	N	0.295881	T	0.18759	0.0450	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.16778	-1.0391	10	0.12766	T	0.61	-5.8799	1.1135	0.01709	0.2309:0.2433:0.1107:0.415	.	218	Q8IWD5	MFS6L_HUMAN	V	218	ENSP00000330051:G218V	ENSP00000330051:G218V	G	-	2	0	MFSD6L	8642511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.814000	0.04486	-2.183000	0.00763	-0.165000	0.13383	GGG		0.577	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		A	8701786	C	A	8701786	3	1	35	1	0	0	0	0	1	0	0	0	9536	623	22	5	1111	5	MFSD6L	17	8701786	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		8701786	72493424	80	2237											
UNC45B	146862	broad.mit.edu	37	chr17	33504108	33504108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacgctctagcaaagatcGctgctgtctccaatccggac	9	8	8	16	3	2	1	0	0	2	1	5	2	3	2	3	1	2	4	3	1	3	1	rs543327883		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:33504108G>A	ENST00000268876.5	+	16	2201	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	UNC45B_ENST00000591048.1_Missense_Mutation_p.A621T|UNC45B_ENST00000394570.2_Missense_Mutation_p.A700T|UNC45B_ENST00000433649.1_Missense_Mutation_p.A700T|UNC45B_ENST00000378449.1_Missense_Mutation_p.A621T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	702					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCAAAGATCGCTGCTGTCTC	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		19109	0		0	False		,,,				2504	0					uc002hja.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2104-2106)Gct>Act		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.							131	102	112					17																	33504108		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33504108G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2104G>A	17.37:g.33504108G>A	ENSP00000268876:p.Ala702Thr					UNC45B_uc002hjb.3_Missense_Mutation_p.A700T|UNC45B_uc002hjc.3_Missense_Mutation_p.A700T|UNC45B_uc010cto.3_Missense_Mutation_p.A621T	p.A702T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			15	2201	+		Ovarian(249;0.17)	702					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2104G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289464	0.40494	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.54071	0.59;3.07;0.59	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.048864	0.85682	D	0.000000	T	0.34861	0.0912	N	0.13098	0.295	0.50313	D	0.999867	P;B;B	0.35527	0.507;0.046;0.027	B;B;B	0.28465	0.09;0.02;0.013	T	0.17745	-1.0359	10	0.30078	T	0.28	-13.2879	18.0106	0.89222	0.0:0.0:1.0:0.0	.	621;700;702	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	T	702;702;700;621	ENSP00000268876:A702T;ENSP00000412840:A700T;ENSP00000367710:A621T	ENSP00000268876:A702T	A	+	1	0	UNC45B	30528221	1.000000	0.71417	0.936000	0.37596	0.958000	0.62258	4.048000	0.57390	2.814000	0.96858	0.563000	0.77884	GCT		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33504108	G	A	33504108	3	1	35	1	0	0	0	0	1	0	0	0	16986	1087	38	1	2162	1	UNC45B	17	33504108	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	24802322	33504108	47691102	81	2238											
SCN4A	6329	broad.mit.edu	37	chr17	62025418	62025418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcaatgtagatgtcctcGaaggcctgggggcaccagca	9	8	13	11	1	1	1	1	0	0	1	3	2	2	1	3	3	2	4	3	3	3	1	rs536963836		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:62025418G>A	ENST00000435607.1	-	17	3226	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F	SCN4A_ENST00000578147.1_Silent_p.F1050F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1050					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATGTCCTCGAAGGCCTGGG	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		19757	0		0	False		,,,				2504	0					uc002jds.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3148-3150)ttC>ttT		Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	Lamotrigine(DB00555)						58	56	57					17																	62025418		2053	4216	6269	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62025418G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3150C>T	17.37:g.62025418G>A							p.F1050F	NM_000334	NP_000325	P35499	SCN4A_HUMAN			16	3227	-			1050					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3150C>T	CCDS45761.1																																																																																				0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62025418	G	A	62025418	2	1	35	1	0	0	0	0	0	0	0	1	13920	1049	37	2		2	SCN4A	17	62025418	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	28521310	62025418	19169792	82	2239											
AZI1	22994	broad.mit.edu	37	chr17	79170626	79170626	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgaggtctcgctgctgcgCctgcagggtgtgggcagagg	4	8	19	10	3	1	2	0	1	1	1	2	2	1	2	1	4	3	4	1	4	0	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:79170626C>T	ENST00000269392.4	-	15	2030	c.1783G>A	c.(1783-1785)Gcg>Acg	p.A595T	AZI1_ENST00000570482.2_5'Flank|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000450824.2_Splice_Site_p.A592T|AZI1_ENST00000374782.3_Splice_Site_p.A592T|AZI1_ENST00000575907.1_Splice_Site_p.A595T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		595					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCTGCTGCGCCTGCAGGGTG	0.687																																						uc002jzp.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.e15-1		Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.							26	24	25					17																	79170626		2183	4289	6472	SO:0001630	splice_region_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79170626C>T																												ENST00000269392.4:c.1783-1G>A	17.37:g.79170626C>T						AZI1_uc002jzm.1_Splice_Site_p.A22_splice|AZI1_uc002jzn.1_Splice_Site_p.A592_splice|AZI1_uc002jzo.1_Splice_Site_p.A592_splice|AZI1_uc010wum.1_Splice_Site_p.A595_splice|AZI1_uc002jzq.3_5'Flank	p.A595_splice	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		15	1983	-	all_neural(118;0.0804)|Melanoma(429;0.242)		595					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.1783_splice		.	.	.	.	.	.	.	.	.	.	C	17.49	3.402202	0.62288	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.33216	1.42;1.42;1.42	4.8	3.82	0.43975	.	0.121669	0.56097	D	0.000038	T	0.36826	0.0981	M	0.66939	2.045	0.51767	D	0.999931	P;B;P;P	0.48350	0.525;0.27;0.909;0.763	B;B;P;B	0.47705	0.25;0.151;0.555;0.288	T	0.12477	-1.0546	10	0.31617	T	0.26	-8.9297	10.5786	0.45242	0.0:0.837:0.0:0.163	.	592;595;592;592	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	T	592;592;595	ENSP00000393583:A592T;ENSP00000363914:A592T;ENSP00000269392:A595T	ENSP00000269392:A595T	A	-	1	0	AZI1	76785221	1.000000	0.71417	0.974000	0.42286	0.502000	0.33828	2.780000	0.47742	1.235000	0.43724	0.313000	0.20887	GCG		0.687	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		Missense_Mutation	T	79170626	C	T	79170626	5	4	35	1	0	0	0	0	0	0	1	0	1240	753	26	3	1516	3	AZI1	17	79170626	Splice_Site	SNP	C	TCGA-06-0174-01A-01D-1491-08	17145208	79170626	2024584	83	2240											
FBN3	84467	broad.mit.edu	37	chr19	8162272	8162272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccattggcacagatggCggggatctccccacactcat	9	8	11	13	1	2	1	1	0	1	1	3	3	2	2	3	4	1	1	3	4	0	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:8162272C>T	ENST00000600128.1	-	42	5602	c.5188G>A	c.(5188-5190)Gcc>Acc	p.A1730T	FBN3_ENST00000270509.2_Missense_Mutation_p.A1730T|FBN3_ENST00000601739.1_Missense_Mutation_p.A1730T			Q75N90	FBN3_HUMAN	fibrillin 3	1730	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGATGGCGGGGATCTCC	0.597																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5188-5190)Gcc>Acc		Homo sapiens fibrillin 3 (FBN3), mRNA.							45	37	40					19																	8162272		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8162272C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5188G>A	19.37:g.8162272C>T	ENSP00000470498:p.Ala1730Thr						p.A1730T	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			40	5205	-			1730			EGF-like 26; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5188G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265896	0.40095	.	.	ENSG00000142449	ENST00000270509	D	0.92249	-3.0	3.81	2.77	0.32553	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.133956	0.49916	N	0.000134	D	0.85535	0.5719	N	0.02420	-0.555	0.36887	D	0.889677	D	0.76494	0.999	P	0.62740	0.906	T	0.81709	-0.0809	10	0.09590	T	0.72	.	11.2859	0.49222	0.0:0.91:0.0:0.09	.	1730	Q75N90	FBN3_HUMAN	T	1730	ENSP00000270509:A1730T	ENSP00000270509:A1730T	A	-	1	0	FBN3	8068272	0.001000	0.12720	0.017000	0.16124	0.072000	0.16883	1.309000	0.33539	0.802000	0.34089	-0.258000	0.10820	GCC		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8162272	C	T	8162272	3	4	35	1	0	0	0	0	1	0	0	0	5704	768	27	1	3333	1	FBN3	19	8162272	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		8162272	50966711	84	2241											
UNC13A	23025	broad.mit.edu	37	chr19	17769035	17769035	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttgctcgtttcactgcgGtagtcactgtcacgatcatc	6	14	9	12	3	4	0	4	0	0	0	6	1	4	0	0	1	2	4	0	1	1	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:17769035G>T	ENST00000519716.2	-	9	602	c.603C>A	c.(601-603)taC>taA	p.Y201*	UNC13A_ENST00000550896.1_Nonsense_Mutation_p.Y201*|UNC13A_ENST00000428389.2_Nonsense_Mutation_p.Y289*|UNC13A_ENST00000551649.1_Nonsense_Mutation_p.Y201*|UNC13A_ENST00000252773.7_Nonsense_Mutation_p.Y201*|UNC13A_ENST00000552293.1_Nonsense_Mutation_p.Y201*	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	201					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.Y289*(1)|p.Y201*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCACTGCGGTAGTCACTGT	0.562																																						uc021uqk.1																			2	Substitution - Nonsense(2)	p.Y289*(1)|p.Y201*(1)	endometrium(2)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(601-603)taC>taA		Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.							106	109	108					19																	17769035		2129	4248	6377	SO:0001587	stop_gained	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17769035G>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.603C>A	19.37:g.17769035G>T	ENSP00000429562:p.Tyr201*						p.Y201*	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			8	645	-			201					E5RHY9	Nonsense_Mutation	SNP	ENST00000519716.2	37	c.603C>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	34	5.343802	0.95807	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	4.63	-2.9	0.05648	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0164	9.6982	0.40169	0.581:0.0:0.419:0.0	.	.	.	.	X	201;289;201;201;201;201	.	ENSP00000252773:Y201X	Y	-	3	2	UNC13A	17630035	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	0.645000	0.24782	-0.218000	0.10018	0.484000	0.47621	TAC		0.562	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17769035	G	T	17769035	4	4	35	1	0	0	0	0	0	1	0	0	16981	1256	44	5	4644	5	UNC13A	19	17769035	Nonsense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	9606763	17769035	41359948	85	2242											
MAG	4099	broad.mit.edu	37	chr19	35793483	35793483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagatcctgtccaCggtcatctacgagagcgagc	11	6	13	11	3	2	3	1	0	1	3	4	6	4	3	2	2	4	1	2	2	2	1	rs144554089	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:35793483C>T	ENST00000392213.3	+	7	1262	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	MAG_ENST00000537831.2_Missense_Mutation_p.T343M|MAG_ENST00000361922.4_Missense_Mutation_p.T368M	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	368	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.T368M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCTGTCCACGGTCATCTAC	0.582																																						uc002nyy.2																			1	Substitution - Missense(1)	p.T368M(2)|p.T368T(1)	central_nervous_system(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1102-1104)aCg>aTg		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	118	98	105		1028,1103,1103	5.1	1	19	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	343/602,368/627,368/583	35793483	1,13005	2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35793483C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1103C>T	19.37:g.35793483C>T	ENSP00000376048:p.Thr368Met					MAG_uc002nyx.2_Missense_Mutation_p.T368M|MAG_uc010eds.2_Missense_Mutation_p.T343M|MAG_uc002nyz.2_Missense_Mutation_p.T368M	p.T368M	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1301	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	368			Ig-like C2-type 3.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1103C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417695	0.42918	0.0	1.16E-4	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.78246	-1.16;-1.16;-1.16	5.14	5.14	0.70334	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053759	0.64402	D	0.000001	D	0.83055	0.5171	L	0.39898	1.24	0.58432	D	0.999998	D;D;P	0.89917	1.0;0.974;0.945	D;B;B	0.72075	0.976;0.36;0.378	T	0.83314	-0.0021	10	0.46703	T	0.11	.	16.0851	0.81042	0.0:1.0:0.0:0.0	.	405;368;368	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	405;368;368;343	ENSP00000355234:T368M;ENSP00000376048:T368M;ENSP00000440695:T343M	ENSP00000262624:T405M	T	+	2	0	MAG	40485323	0.999000	0.42202	0.994000	0.49952	0.211000	0.24417	4.169000	0.58223	2.381000	0.81170	0.455000	0.32223	ACG		0.582	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35793483	C	T	35793483	3	4	35	1	0	0	0	0	1	0	0	0	9162	536	19	1	1121	1	MAG	19	35793483	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	18024448	35793483	23335500	86	2243											
RYR1	6261	broad.mit.edu	37	chr19	38958338	38958338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcggccgctggtacttCgagtttgaagcagtcaccac	9	8	12	12	3	1	2	1	1	0	1	2	3	1	2	2	2	3	4	2	2	2	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:38958338C>T	ENST00000359596.3	+	25	3267	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	RYR1_ENST00000355481.4_Silent_p.F1089F|RYR1_ENST00000360985.3_Silent_p.F1089F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1089	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGTACTTCGAGTTTGAAG	0.592																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3265-3267)ttC>ttT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						93	83	86					19																	38958338		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958338C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3267C>T	19.37:g.38958338C>T						RYR1_uc002oiu.3_Silent_p.F1089F	p.F1089F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3397	+	all_cancers(60;7.91e-06)		1089			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3267C>T	CCDS33011.1																																																																																				0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38958338	C	T	38958338	2	4	35	1	0	0	0	0	0	0	0	1	13768	883	31	2		2	RYR1	19	38958338	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	3164855	38958338	20170645	87	2244											
CYP2S1	29785	broad.mit.edu	37	chr19	41700569	41700569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggctgaggagttcagcGgccggggaaccgtagcgatg	8	6	18	9	4	2	1	2	1	0	0	2	4	2	3	2	5	3	3	2	5	2	2	rs199728850		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:41700569G>A	ENST00000310054.4	+	2	514	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	100					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G100S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTTCAGCGGCCGGGGAAC	0.637																																						uc002opw.3																			1	Substitution - Missense(1)	p.G100S(2)|p.S99G(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(298-300)Ggc>Agc		Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.							130	107	115					19																	41700569		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41700569G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.298G>A	19.37:g.41700569G>A	ENSP00000308032:p.Gly100Ser					CYP2S1_uc010xvx.2_5'UTR	p.G100S	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN			1	353	+			100					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.298G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757791	0.69648	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01221	5.15	4.27	4.27	0.50696	.	0.213258	0.38272	N	0.001743	T	0.05731	0.0150	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.35674	-0.9779	10	0.62326	D	0.03	.	14.3115	0.66419	0.0:0.0:1.0:0.0	.	100	Q96SQ9	CP2S1_HUMAN	S	100	ENSP00000308032:G100S	ENSP00000301173:G100S	G	+	1	0	CYP2S1	46392409	1.000000	0.71417	0.928000	0.36995	0.061000	0.15899	7.558000	0.82253	2.249000	0.74217	0.485000	0.47835	GGC		0.637	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			A	41700569	G	A	41700569	3	1	35	1	0	0	0	0	1	0	0	0	4174	1116	39	2	304	2	CYP2S1	19	41700569	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	2742231	41700569	17428414	88	2245											
SCAF1	58506	broad.mit.edu	37	chr19	50157645	50157645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaagaagccaacctggCgagccgagcgaaggcccagg	12	2	16	11	3	0	1	0	0	0	1	0	6	0	2	4	4	4	0	4	4	4	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:50157645C>T	ENST00000360565.3	+	8	3480	c.3356C>T	c.(3355-3357)gCg>gTg	p.A1119V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1119					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCAACCTGGCGAGCCGAGCG	0.607																																						uc002poq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3355-3357)gCg>gTg		Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.							30	29	29					19																	50157645		2201	4296	6497	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50157645C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3356C>T	19.37:g.50157645C>T	ENSP00000353769:p.Ala1119Val						p.A1119V	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	3480	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1119					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.3356C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.216900	0.79352	.	.	ENSG00000126461	ENST00000360565	T	0.50277	0.75	5.1	5.1	0.69264	.	0.000000	0.45606	D	0.000360	T	0.57710	0.2072	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.60929	-0.7165	10	0.62326	D	0.03	-24.0877	17.4355	0.87550	0.0:1.0:0.0:0.0	.	1119	Q9H7N4	SFR19_HUMAN	V	1119	ENSP00000353769:A1119V	ENSP00000353769:A1119V	A	+	2	0	SCAF1	54849457	1.000000	0.71417	0.967000	0.41034	0.913000	0.54294	6.235000	0.72332	2.651000	0.90000	0.651000	0.88453	GCG		0.607	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50157645	C	T	50157645	3	4	35	1	0	0	0	0	1	0	0	0	13868	768	27	1	3382	1	SCAF1	19	50157645	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	8457076	50157645	8971338	89	2246											
NLRP13	126204	broad.mit.edu	37	chr19	56424553	56424553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagttcctcatgttcGtcctttgatgtattacggat	6	16	9	10	3	1	1	1	1	0	0	4	2	3	2	2	1	2	5	2	1	2	5	rs371490465		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:56424553G>A	ENST00000342929.3	-	5	629	c.630C>T	c.(628-630)gaC>gaT	p.D210D	NLRP13_ENST00000588751.1_Silent_p.D210D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	210							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCATGTTCGTCCTTTGATG	0.498													G|||	1	0.000199681	0	0	5008	,	,		18036	0.001		0	False		,,,				2504	0					uc010ygg.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(628-630)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.							166	173	170					19																	56424553		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56424553G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.630C>T	19.37:g.56424553G>A							p.D210D	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	4	655	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	210					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.630C>T	CCDS33119.1																																																																																				0.498	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56424553	G	A	56424553	2	1	35	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56424553	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	6266908	56424553	2704430	90	2247											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506102	44506102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatctttcctgctgcccGcatcctcctttccatctacc	5	13	6	17	1	2	1	0	0	2	1	6	2	6	1	6	1	3	2	6	1	1	3	rs569141770	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr20:44506102G>A	ENST00000255152.2	+	2	1114	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R296H	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	302							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGCTGCCCGCATCCTCCTT	0.502													G|||	2	0.000399361	0	0	5008	,	,		22273	0		0	False		,,,				2504	0.002					uc002xqd.3																			0		p.A301A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(904-906)cGc>cAc		Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.							85	85	85					20																	44506102		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506102G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.905G>A	20.37:g.44506102G>A	ENSP00000255152:p.Arg302His					ZSWIM3_uc010zxg.2_Missense_Mutation_p.R296H	p.R302H	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			1	1150	+		Myeloproliferative disorder(115;0.0122)	302					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.905G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675759	0.67928	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.31510	1.49;1.49	5.65	5.65	0.86999	MULE transposase domain (1);	0.164877	0.44483	D	0.000443	T	0.36880	0.0983	L	0.36672	1.1	0.41494	D	0.988243	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.984	T	0.17561	-1.0365	10	0.10111	T	0.7	-28.9044	7.261	0.26203	0.191:0.0:0.809:0.0	.	296;302	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	H	302;296	ENSP00000255152:R302H;ENSP00000406313:R296H	ENSP00000255152:R302H	R	+	2	0	ZSWIM3	43939509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CGC		0.502	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		A	44506102	G	A	44506102	3	1	35	1	0	0	0	0	1	0	0	0	18239	1087	38	1	911	1	ZSWIM3	20	44506102	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		44506102	18519418	91	2248											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812738	31812738	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttataatttgttctacccCagcaatgccatctattctcc	10	15	3	13	0	3	0	0	0	3	0	4	0	3	0	4	0	3	2	4	0	5	7			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:31812738C>A	ENST00000334067.3	+	1	142	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	31						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTTCTACCCCAGCAATGCCA	0.478																																						uc002yod.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(91-93)ccC>ccA		Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.							88	88	88					21																	31812738		2203	4300	6503	SO:0001819	synonymous_variant	254950					intermediate filament		g.chr21:31812738C>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.93C>A	21.37:g.31812738C>A							p.P31P	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			0	93	+			31					Q2M3F4	Silent	SNP	ENST00000334067.3	37	c.93C>A	CCDS13593.1																																																																																				0.478	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			A	31812738	C	A	31812738	2	1	35	1	0	0	0	0	0	0	0	1	8526	581	21	5		5	KRTAP15-1	21	31812738	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		31812738	16317157	92	2249											
DERL3	91319	broad.mit.edu	37	chr22	24179323	24179323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctccaggaagtagtagAtatggcccaccgcaatccct	10	8	9	14	2	0	1	0	0	0	1	3	2	3	2	5	2	0	3	5	2	5	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:24179323A>G	ENST00000318109.7	-	6	558	c.542T>C	c.(541-543)aTc>aCc	p.I181T	DERL3_ENST00000406855.3_Missense_Mutation_p.I181T|DERL3_ENST00000476077.1_Missense_Mutation_p.I181T|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000404056.1_Missense_Mutation_p.I154T			Q96Q80	DERL3_HUMAN	derlin 3	181					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GAAGTAGTAGATATGGCCCAC	0.632																																						uc002zyk.4																			0				ovary(1)|prostate(1)|skin(1)	3						c.(541-543)aTc>aCc		Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.							69	63	65					22																	24179323		2203	4300	6503	SO:0001583	missense	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179323A>G	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.542T>C	22.37:g.24179323A>G	ENSP00000315303:p.Ile181Thr					DERL3_uc002zyh.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.3_Missense_Mutation_p.I181T|DERL3_uc002zyj.3_Silent_p.Y137Y|DERL3_uc021wmv.1_5'Flank	p.I181T	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN			5	567	-			181					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.542T>C	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769993	0.49680	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.63	4.63	0.57726	.	0.206543	0.42548	D	0.000698	T	0.31606	0.0802	L	0.38953	1.18	0.80722	D	1	B;B	0.17038	0.02;0.011	B;B	0.25405	0.06;0.026	T	0.10894	-1.0610	10	0.48119	T	0.1	.	13.5822	0.61909	1.0:0.0:0.0:0.0	.	181;181	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	T	181;154;181;181	ENSP00000384744:I181T;ENSP00000384473:I154T;ENSP00000315303:I181T;ENSP00000419399:I181T	ENSP00000315303:I181T	I	-	2	0	DERL3	22509323	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.161000	0.77505	1.866000	0.54105	0.456000	0.33151	ATC		0.632	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		G	24179323	A	G	24179323	3	3	35	1	0	0	0	0	1	0	0	0	4448	333	12	4	287	4	DERL3	22	24179323	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08		24179323	27125243	93	2250											
SYN3	8224	broad.mit.edu	37	chr22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaagacttcctcaggttgCggatggtttcagccttggcc	8	11	11	11	1	2	1	2	0	0	1	3	2	3	2	3	4	2	2	3	4	2	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:32909719C>T	ENST00000358763.2	-	14	1945	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_ENST00000332840.5_Missense_Mutation_p.R568H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	568	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R568H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572																																						uc003amx.3																			1	Substitution - Missense(1)	p.R568H(2)	large_intestine(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1702-1704)cGc>cAc		Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.							160	115	130					22																	32909719		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32909719C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1703G>A	22.37:g.32909719C>T	ENSP00000351614:p.Arg568His					SYN3_uc003amy.3_3'UTR|SYN3_uc003amz.3_Missense_Mutation_p.R567H	p.R568H	NM_003490	NP_003481	O14994	SYN3_HUMAN			12	1865	-			568			E.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1703G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518069	0.96416	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.53640	0.61;0.61	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72141	-0.4380	10	0.87932	D	0	-4.6075	19.5608	0.95371	0.0:1.0:0.0:0.0	.	567;568	Q17R54;O14994	.;SYN3_HUMAN	H	568;568;174	ENSP00000351614:R568H;ENSP00000330219:R568H	ENSP00000330219:R568H	R	-	2	0	SYN3	31239719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	CGC		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			T	32909719	C	T	32909719	3	4	35	1	0	0	0	0	1	0	0	0	15439	768	27	1	43	1	SYN3	22	32909719	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	8730396	32909719	18394847	94	2251											
NAGA	4668	broad.mit.edu	37	chr22	42458918	42458918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtccatgttctgggcGgagatggtacgcaggtctgt	8	11	15	7	2	2	2	0	0	2	2	3	3	3	2	1	4	1	3	1	4	2	2	rs144984228		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:42458918G>A	ENST00000396398.3	-	7	1402	c.870C>T	c.(868-870)tcC>tcT	p.S290S	NAGA_ENST00000402937.1_Silent_p.S290S|NAGA_ENST00000403363.1_Silent_p.S290S	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	290					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTTCTGGGCGGAGATGGTAC	0.557																																						uc003bbw.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(868-870)tcC>tcT		Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	131	110	117		870	-7.3	0	22	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NAGA	NM_000262.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		290/412	42458918	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42458918G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.870C>T	22.37:g.42458918G>A							p.S290S	NM_000262	NP_000253	P17050	NAGAB_HUMAN			6	1415	-			290						Silent	SNP	ENST00000396398.3	37	c.870C>T	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052075	0.01981	2.27E-4	1.16E-4	ENSG00000198951	ENST00000481068	.	.	.	5.69	-7.31	0.01441	.	.	.	.	.	T	0.36054	0.0953	.	.	.	0.47819	D	0.999521	.	.	.	.	.	.	T	0.46162	-0.9211	4	.	.	.	-18.3189	2.9144	0.05748	0.2935:0.1369:0.431:0.1387	.	.	.	.	C	168	.	.	R	-	1	0	NAGA	40788864	0.000000	0.05858	0.047000	0.18901	0.041000	0.13682	-1.095000	0.03356	-0.632000	0.05553	-1.165000	0.01757	CGC		0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			A	42458918	G	A	42458918	2	1	35	1	0	0	0	0	0	0	0	1	10141	1103	39	2		2	NAGA	22	42458918	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	9549199	42458918	8845648	95	2252											
AMELX	265	broad.mit.edu	37	chrX	11316747	11316747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcccaacagcacccccCgactcacaccctgcagcctc	8	5	6	22	1	1	0	1	0	0	0	3	1	2	0	6	0	4	3	6	0	1	0	rs148259441		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:11316747C>T	ENST00000380714.3	+	5	292	c.224C>T	c.(223-225)cCg>cTg	p.P75L	ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.P89L|AMELX_ENST00000348912.4_Missense_Mutation_p.P59L|ARHGAP6_ENST00000380736.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	75					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCACCCCCCGACTCACACC	0.602																																						uc004cus.3																			0		p.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(265-267)cCg>cTg		Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.							137	118	124					X																	11316747		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316747C>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"amelogenesis imperfecta 1"	300391	"amelogenin (X chromosome, amelogenesis imperfecta 1)"	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.224C>T	X.37:g.11316747C>T	ENSP00000370090:p.Pro75Leu					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P75L|AMELX_uc004cuu.3_Missense_Mutation_p.P59L	p.P89L	NM_182680	NP_872621	Q99217	AMELX_HUMAN			5	334	+			75					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.266C>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252464	0.39797	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88431	-2.38;-2.38;-2.38	5.0	2.01	0.26516	.	0.680797	0.13924	N	0.353342	D	0.86029	0.5835	L	0.60455	1.87	0.41576	D	0.988717	B;B;B	0.27117	0.139;0.168;0.139	B;B;B	0.21546	0.034;0.035;0.034	T	0.78889	-0.2026	10	0.52906	T	0.07	1.2874	12.6479	0.56746	0.4514:0.5486:0.0:0.0	.	59;75;89	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	75;89;59	ENSP00000370090:P75L;ENSP00000370088:P89L;ENSP00000335312:P59L	ENSP00000335312:P59L	P	+	2	0	AMELX	11226668	0.866000	0.29940	0.958000	0.39756	0.995000	0.86356	0.030000	0.13688	-0.012000	0.14223	0.415000	0.27848	CCG		0.602	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		T	11316747	C	T	11316747	3	4	35	1	0	0	0	0	1	0	0	0	569	652	23	2	284	2	AMELX	23	11316747	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		11316747	143953813	96	2253											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698312	111698312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatctgggcctgacaagaGtaccttactgaagcaatatg	13	10	9	9	0	1	3	0	2	1	1	1	3	1	3	2	1	3	2	2	1	7	4	rs149089921		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:111698312G>C	ENST00000340433.2	+	1	586	c.356G>C	c.(355-357)aGt>aCt	p.S119T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	119							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S119T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGACAAGAGTACCTTACTG	0.383																																						uc022cct.1																			1	Substitution - Missense(1)	p.S119T(2)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(355-357)aGt>aCt		Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.							97	88	91					X																	111698312		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698312G>C	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.356G>C	X.37:g.111698312G>C	ENSP00000340590:p.Ser119Thr					ZCCHC16_uc004epo.1_Missense_Mutation_p.S119T	p.S119T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			0	356	+			119					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.356G>C	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117436	0.08881	.	.	ENSG00000187823	ENST00000340433	T	0.44881	0.91	3.99	-1.55	0.08558	.	1.166430	0.06578	N	0.749699	T	0.27866	0.0686	L	0.27053	0.805	0.09310	N	1	P	0.36535	0.557	B	0.36186	0.219	T	0.21177	-1.0253	10	0.23891	T	0.37	0.25	8.1313	0.31029	0.5781:0.0:0.4219:0.0	.	119	Q6ZR62	ZCH16_HUMAN	T	119	ENSP00000340590:S119T	ENSP00000340590:S119T	S	+	2	0	ZCCHC16	111584968	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.871000	0.04223	-0.505000	0.06568	0.523000	0.50628	AGT		0.383	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		C	111698312	G	C	111698312	3	2	35	1	0	0	0	0	1	0	0	0	17581	1029	36	5	358	5	ZCCHC16	23	111698312	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	100381565	111698312	43572248	97	2254											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299765	125299765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgcaccagcctgcgaCgcgtcgccggccgcttctgc	5	7	13	16	6	1	0	0	0	1	0	2	2	1	0	4	1	4	2	4	1	1	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:125299765C>T	ENST00000360028.2	-	1	169	c.143G>A	c.(142-144)cGt>cAt	p.R48H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R48H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	48										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTGCGACGCGTCGCCGG	0.731																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(142-144)cGt>cAt		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							12	16	14					X																	125299765		1870	3777	5647	SO:0001583	missense	340578							g.chrX:125299765C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.143G>A	X.37:g.125299765C>T	ENSP00000353128:p.Arg48His						p.R48H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	316	-			48					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.143G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	16.13	3.037072	0.54896	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18960	2.18;2.18	3.11	-3.14	0.05250	.	.	.	.	.	T	0.11452	0.0279	L	0.35723	1.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34527	-0.9825	9	0.30854	T	0.27	.	0.2208	0.00168	0.3067:0.1841:0.1506:0.3586	.	48	Q5VW00	DC122_HUMAN	H	48	ENSP00000441489:R48H;ENSP00000353128:R48H	ENSP00000353128:R48H	R	-	2	0	DCAF12L2	125127446	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.441000	0.21611	-0.964000	0.03595	0.287000	0.19450	CGT		0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299765	C	T	125299765	3	4	35	1	0	0	0	0	1	0	0	0	4265	536	19	1	1252	1	DCAF12L2	23	125299765	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	13601453	125299765	29970795	98	2255											
AFF2	2334	broad.mit.edu	37	chrX	147967460	147967460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagtgatgaagatgAccttgagcctgtgaagacct	11	9	13	8	0	0	8	0	6	0	2	0	8	0	8	3	0	2	2	3	0	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:147967460A>G	ENST00000370460.2	+	8	1783	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	AFF2_ENST00000342251.3_Missense_Mutation_p.D402G|AFF2_ENST00000286437.5_Missense_Mutation_p.D76G|AFF2_ENST00000370457.5_Missense_Mutation_p.D402G|AFF2_ENST00000370458.1_Missense_Mutation_p.D396G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	435					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGATGACCTTGAGCCT	0.483																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1303-1305)gAc>gGc		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							338	285	303					X																	147967460		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147967460A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1304A>G	X.37:g.147967460A>G	ENSP00000359489:p.Asp435Gly					AFF2_uc004fco.3_Missense_Mutation_p.D396G|AFF2_uc004fcq.3_Missense_Mutation_p.D425G|AFF2_uc004fcr.3_Missense_Mutation_p.D396G|AFF2_uc011mxb.2_Missense_Mutation_p.D400G|AFF2_uc004fcs.3_Missense_Mutation_p.D402G|AFF2_uc011mxc.2_Missense_Mutation_p.D76G	p.D435G	NM_002025	NP_002016	P51816	AFF2_HUMAN			7	1783	+	Acute lymphoblastic leukemia(192;6.56e-05)		435					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1304A>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199181	0.79015	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.45	5.45	0.79879	.	0.120556	0.53938	D	0.000060	T	0.72382	0.3453	L	0.47716	1.5	0.53688	D	0.999974	D;D;D;D;D;D;D	0.76494	0.989;0.986;0.986;0.986;0.986;0.989;0.999	P;P;P;P;P;P;D	0.68765	0.862;0.783;0.783;0.783;0.783;0.862;0.96	T	0.73649	-0.3916	10	0.51188	T	0.08	.	14.5211	0.67851	1.0:0.0:0.0:0.0	.	76;400;402;396;425;435;396	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	G	435;402;402;396;76	ENSP00000359489:D435G;ENSP00000359486:D402G;ENSP00000345459:D402G;ENSP00000359487:D396G;ENSP00000286437:D76G	ENSP00000286437:D76G	D	+	2	0	AFF2	147775153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.641000	0.74324	1.808000	0.52836	0.481000	0.45027	GAC		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		G	147967460	A	G	147967460	3	3	35	1	0	0	0	0	1	0	0	0	357	275	10	4	1389	4	AFF2	23	147967460	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	22667695	147967460	7303100	99	2256											
TGIF2LY	90655	broad.mit.edu	37	chrY	3447632	3447632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggatatgcttcaacagcGtagaaacgaccccatcattg	12	8	8	13	3	2	1	2	0	0	1	2	3	2	2	3	1	4	2	3	1	4	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrY:3447632G>A	ENST00000559055.2	+	1	477	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.R116H			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						CTTCAACAGCGTAGAAACGAC	0.527																																						uc004fqk.3																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(346-348)cGt>cAt		Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.																																				SO:0001583	missense	90655					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrY:3447632G>A	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"Homeoboxes / TALE class"	18569	protein-coding gene	gene with protein product		400025	"TGFB-induced factor 2-like, Y-linked"				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.347G>A	Y.37:g.3447632G>A	ENSP00000453750:p.Arg116His					TGIF2LY_uc022ciw.1_Missense_Mutation_p.R116H	p.R116H	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN			1	411	+			116					A2VCU1	Missense_Mutation	SNP	ENST00000559055.2	37	c.347G>A	CCDS14775.1																																																																																				0.527	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214		A	3447632	G	A	3447632	3	1	35	1	0	0	0	0	1	0	0	0	15825	1145	40	1	349	1	TGIF2LY	24	3447632	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		3447632	55925934	100	2257											
SFT2D1	113402	broad.mit.edu	37	chr6	166739646	166739646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcacacagggtaaataTgaaacacaactacaggggaa	19	4	10	8	0	0	1	0	1	0	0	0	2	0	2	0	3	5	3	0	3	7	3	rs11551053	byFrequency	TCGA-06-0178-01A-01D-1491-08	TCGA-06-0178-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4fa779b-d116-4696-b170-60f3e215e9fb	c9f63961-b124-468a-bff1-62c1aedd1805	g.chr6:166739646T>C	ENST00000361731.3	-	5	434	c.325A>G	c.(325-327)Ata>Gta	p.I109V	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1									p.I109V(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AGGGTAAATATGAAACACAAC	0.413													C|||	557	0.111222	0.0356	0.0793	5008	,	,		18011	0.3313		0.0398	False		,,,				2504	0.0828					uc003qux.3																			1	Substitution - Missense(1)	p.I109V(2)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6						c.(325-327)Ata>Gta		Homo sapiens SFT2 domain containing 1 (SFT2D1), mRNA.		C	VAL/ILE	147,4259	812.6+/-416.1	1,145,2057	82	78	79		325	-1.3	0	6	dbSNP_120	79	304,8296	805.6+/-407.3	5,294,4001	yes	missense	SFT2D1	NM_145169.1	29	6,439,6058	CC,CT,TT		3.5349,3.3364,3.4676	benign	109/160	166739646	451,12555	2203	4300	6503	SO:0001583	missense	113402				protein transport|vesicle-mediated transport	integral to membrane		g.chr6:166739646T>C	AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 83"	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.325A>G	6.37:g.166739646T>C	ENSP00000354590:p.Ile109Val						p.I109V	NM_145169	NP_660152	Q8WV19	SFT2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)	4	347	-		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)	109		I -> V (in dbSNP:rs11551053).				Missense_Mutation	SNP	ENST00000361731.3	37	c.325A>G	CCDS5292.1	278	0.12728937728937728	19	0.03861788617886179	26	0.0718232044198895	199	0.3479020979020979	34	0.044854881266490766	C	0	-2.803354	0.00075	0.033364	0.035349	ENSG00000198818	ENST00000361731	T	0.58652	0.32	4.98	-1.34	0.09143	.	0.690574	0.13904	N	0.354704	T	0.07458	0.0188	N	0.03209	-0.39	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25012	-1.0144	9	0.02654	T	1	-6.1183	5.4909	0.16774	0.1304:0.4651:0.0:0.4045	rs11551053;rs36102427;rs60635309	109	Q8WV19	SFT2A_HUMAN	V	109	ENSP00000354590:I109V	ENSP00000354590:I109V	I	-	1	0	SFT2D1	166659636	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.557000	0.02166	-0.259000	0.09432	-1.008000	0.02478	ATA		0.413	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169		C	166739646	T	C	166739646	3	2	36	1	0	0	0	0	1	0	0	0	14185	1464	51	4	170	4	SFT2D1	6	166739646	Missense_Mutation	SNP	T	TCGA-06-0178-01A-01D-1491-08		166739646	4375421	1	2258											
MYO1D	4642	broad.mit.edu	37	chr17	31203857	31203857	+	Frame_Shift_Del	DEL	C	C	-																															gtccatcagcacgaagtctgCcttgccgaattccaggctct																										TCGA-06-0178-01A-01D-1491-08	TCGA-06-0178-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4fa779b-d116-4696-b170-60f3e215e9fb	c9f63961-b124-468a-bff1-62c1aedd1805	g.chr17:31203857delC	ENST00000318217.5	-	1	338	c.34delG	c.(34-36)gcafs	p.A12fs	AC084809.2_ENST00000435733.1_RNA|MYO1D_ENST00000579584.1_Frame_Shift_Del_p.A12fs|MYO1D_ENST00000583621.1_Frame_Shift_Del_p.A12fs	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	12	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGAAGTCTGCCTTGCCGAAT	0.726																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(34-36)gcafs		Homo sapiens myosin ID (MYO1D), mRNA.							30	21	24					17																	31203857		2181	4273	6454	SO:0001589	frameshift_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31203857delC	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.34delG	17.37:g.31203857delC	ENSP00000324527:p.Ala12fs					MYO1D_uc002hhp.1_Frame_Shift_Del_p.A12fs|MYO1D_uc010wcb.2_Frame_Shift_Del_p.A12fs	p.A12fs	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		0	46	-			12			Myosin head-like.		A6H8V3|Q8NHP9	Frame_Shift_Del	DEL	ENST00000318217.5	37	c.34delG	CCDS32615.1																																																																																				0.726	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			-	31203857	C	-	31203857	7	5	36	1	0	1	0	1	0	0	0	0	10071	739	26	0	3074	0	MYO1D	17	31203857	Frame_Shift_Del	DEL	C	TCGA-06-0178-01A-01D-1491-08		31203857	49991353	2	2259											
SPSB1	80176	broad.mit.edu	37	chr1	9416221	9416221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgctatcaggggcaaaGtcgggtatacccgtgggctg	8	7	16	10	4	1	0	1	0	0	0	2	1	1	1	1	5	1	4	1	5	4	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:9416221G>A	ENST00000328089.6	+	2	612	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	SPSB1_ENST00000377399.2_Missense_Mutation_p.V91I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V91I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	91	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGGCAAAGTCGGGTATAC	0.632																																						uc010oae.2																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(271-273)Gtc>Atc		Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.							126	130	128					1																	9416221		2203	4300	6503	SO:0001583	missense	80176				intracellular signal transduction	cytoplasm		g.chr1:9416221G>A		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.271G>A	1.37:g.9416221G>A	ENSP00000330221:p.Val91Ile					SPSB1_uc001apv.3_Missense_Mutation_p.V91I	p.V91I	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	1	610	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	91			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	c.271G>A	CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382738	0.25031	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.059882	0.64402	D	0.000003	T	0.27967	0.0689	N	0.26162	0.8	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08994	-1.0695	10	0.15952	T	0.53	-0.9163	11.2799	0.49188	0.0833:0.0:0.9167:0.0	.	91	Q96BD6	SPSB1_HUMAN	I	91	ENSP00000330221:V91I;ENSP00000409235:V91I;ENSP00000350573:V91I;ENSP00000366616:V91I	ENSP00000330221:V91I	V	+	1	0	SPSB1	9338808	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	5.676000	0.68131	2.428000	0.82296	0.655000	0.94253	GTC		0.632	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		A	9416221	G	A	9416221	3	1	37	1	0	0	0	0	1	0	0	0	15111	1029	36	3	273	3	SPSB1	1	9416221	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		9416221	239834400	1	2260											
CYP4B1	1580	broad.mit.edu	37	chr1	47279693	47279693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctcaccccacatggcCgccgcttcctgcgggcctgc	4	7	11	19	3	1	0	1	0	0	0	2	0	2	0	6	3	2	2	6	3	0	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:47279693C>T	ENST00000271153.4	+	6	766	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R245C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R82C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R230C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	244					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCCACATGGCCGCCGCTTCCT	0.592																																						uc001cqn.4																			0		p.R244L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(733-735)Cgc>Tgc		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							108	106	107					1																	47279693		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279693C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.730C>T	1.37:g.47279693C>T	ENSP00000271153:p.Arg244Cys					CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C|CYP4B1_uc001cqm.4_Missense_Mutation_p.R244C|CYP4B1_uc009vym.3_Missense_Mutation_p.R230C|CYP4B1_uc010omk.2_Missense_Mutation_p.R81C|CYP4B1_uc010oml.1_Missense_Mutation_p.R82C	p.R245C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			5	817	+	Acute lymphoblastic leukemia(166;0.155)		244					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.733C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736654	0.30774	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.08	3.21	0.36854	.	0.278448	0.42682	N	0.000670	T	0.73783	0.3631	M	0.91920	3.255	0.43724	D	0.996204	B;B;B;B	0.30211	0.151;0.241;0.231;0.273	B;B;B;B	0.30782	0.04;0.064;0.073;0.12	T	0.70644	-0.4815	10	0.44086	T	0.13	.	8.926	0.35641	0.0:0.7702:0.0:0.2298	.	82;230;245;244	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	C	245;244;230;82;81	ENSP00000360991:R245C;ENSP00000271153:R244C;ENSP00000360987:R230C;ENSP00000400413:R82C;ENSP00000437670:R81C	ENSP00000271153:R244C	R	+	1	0	CYP4B1	47052280	0.002000	0.14202	1.000000	0.80357	0.516000	0.34256	1.475000	0.35409	0.545000	0.28902	-0.333000	0.08304	CGC		0.592	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47279693	C	T	47279693	3	4	37	1	0	0	0	0	1	0	0	0	4185	652	23	2	755	2	CYP4B1	1	47279693	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	37863472	47279693	201970928	2	2261											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-																															tctcccagtcccgcaaaggcTtttccccctccgctgcctcc																										TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						uc001frr.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)cttfs		Homo sapiens CD1d molecule (CD1D), mRNA.							202	226	218					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs					CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	p.L25fs	NM_001766	NP_001757	P15813	CD1D_HUMAN			2	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		-	158151257	T	-	158151257	7	5	37	1	0	1	0	1	0	0	0	0	2977	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-06-0184-01A-01D-1491-08	110871564	158151257	91099364	3	2262											
GPR161	23432	broad.mit.edu	37	chr1	168065791	168065791	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctggaagtcctctgtcGttgcacaaatggttcccgat	8	11	11	11	2	1	0	0	0	1	0	4	3	3	1	3	2	2	3	3	2	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:168065791G>A	ENST00000367838.1	-	5	1367	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	GPR161_ENST00000537209.1_Nonsense_Mutation_p.R372*|GPR161_ENST00000367836.1_Nonsense_Mutation_p.R220*|GPR161_ENST00000367835.1_Nonsense_Mutation_p.R352*|GPR161_ENST00000361697.2_Nonsense_Mutation_p.R352*|GPR161_ENST00000546300.1_Nonsense_Mutation_p.R238*|GPR161_ENST00000539777.1_Nonsense_Mutation_p.R274*|GPR161_ENST00000271357.5_Nonsense_Mutation_p.R352*	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	352					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTCCTCTGTCGTTGCACAAAT	0.512																																						uc010pln.2																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1114-1116)Cga>Tga		Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.							86	84	85					1																	168065791		2203	4300	6503	SO:0001587	stop_gained	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168065791G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1054C>T	1.37:g.168065791G>A	ENSP00000356812:p.Arg352*					GPR161_uc001gfb.3_Nonsense_Mutation_p.R220*|GPR161_uc001gfc.3_Nonsense_Mutation_p.R352*|GPR161_uc010pll.2_Nonsense_Mutation_p.R262*|GPR161_uc010plm.2_Nonsense_Mutation_p.R238*|GPR161_uc009wvo.3_Nonsense_Mutation_p.R369*|GPR161_uc001gfd.3_Nonsense_Mutation_p.R352*|GPR161_uc001gfe.1_Nonsense_Mutation_p.R352*	p.R372*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			3	1648	-	all_hematologic(923;0.215)		352					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Nonsense_Mutation	SNP	ENST00000367838.1	37	c.1114C>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099384	0.98654	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	.	.	.	5.61	3.71	0.42584	.	0.128731	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4176	11.4639	0.50227	0.1471:0.0:0.8529:0.0	.	.	.	.	X	352;352;220;352;238;274;372;352	.	ENSP00000271357:R352X	R	-	1	2	GPR161	166332415	1.000000	0.71417	0.998000	0.56505	0.311000	0.27955	6.489000	0.73641	1.500000	0.48636	0.655000	0.94253	CGA		0.512	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		A	168065791	G	A	168065791	4	1	37	1	0	0	0	0	0	1	0	0	6665	1153	40	1	551	1	GPR161	1	168065791	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	9914534	168065791	81184830	4	2263											
HMCN1	83872	broad.mit.edu	37	chr1	186008959	186008959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattcctgccccaagtcTgacctggttgaaagatggga	10	10	12	9	0	1	3	0	2	1	1	2	4	2	4	4	3	1	2	4	3	3	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:186008959T>C	ENST00000271588.4	+	39	6357	c.6128T>C	c.(6127-6129)cTg>cCg	p.L2043P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2043P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2043	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCCCAAGTCTGACCTGGTTG	0.443																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6127-6129)cTg>cCg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							164	153	157					1																	186008959		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008959T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6128T>C	1.37:g.186008959T>C	ENSP00000271588:p.Leu2043Pro						p.L2043P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			38	6357	+			2043			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6128T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356077	0.82243	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068925	0.64402	D	0.000017	T	0.81422	0.4819	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83339	-0.0009	10	0.54805	T	0.06	.	14.6532	0.68814	0.0:0.0:0.0:1.0	.	2043	Q96RW7	HMCN1_HUMAN	P	2043	ENSP00000271588:L2043P;ENSP00000356462:L2043P	ENSP00000271588:L2043P	L	+	2	0	HMCN1	184275582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.626000	0.83164	1.995000	0.58328	0.528000	0.53228	CTG		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186008959	T	C	186008959	3	2	37	1	0	0	0	0	1	0	0	0	7220	1580	55	4	6282	4	HMCN1	1	186008959	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08	17943168	186008959	63241662	5	2264											
DSTYK	25778	broad.mit.edu	37	chr1	205129369	205129369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccacaccatactggccccGgcccagttcctgtcccagtt	7	9	7	18	1	0	0	0	0	0	0	2	0	2	0	7	2	2	2	7	2	2	4			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:205129369G>A	ENST00000367162.3	-	8	2008	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.R660W	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACTGGCCCCGGCCCAGTTCC	0.502																																						uc001hbw.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1978-1980)Cgg>Tgg		Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.							112	104	107					1																	205129369		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205129369G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1978C>T	1.37:g.205129369G>A	ENSP00000356130:p.Arg660Trp					DSTYK_uc001hbx.3_Missense_Mutation_p.R660W|DSTYK_uc001hby.1_Missense_Mutation_p.R121W	p.R660W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			7	2042	-			660			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1978C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517392	0.64634	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.67345	-0.26;-0.26	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.79805	2.47	0.80722	D	1	D;D;B	0.89917	1.0;0.974;0.26	D;P;B	0.67231	0.95;0.709;0.315	D	0.83422	0.0033	10	0.87932	D	0	-22.4492	13.5844	0.61921	0.0:0.0:0.8444:0.1555	.	121;660;660	Q6XUX3-4;Q6XUX3-2;Q6XUX3	.;.;DUSTY_HUMAN	W	660	ENSP00000356129:R660W;ENSP00000356130:R660W	ENSP00000356129:R660W	R	-	1	2	DSTYK	203395992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.118000	0.71583	2.581000	0.87130	0.563000	0.77884	CGG		0.502	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		A	205129369	G	A	205129369	3	1	37	1	0	0	0	0	1	0	0	0	4785	1115	39	2	835	2	DSTYK	1	205129369	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	19120410	205129369	44121252	6	2265											
TRIM58	25893	broad.mit.edu	37	chr1	248023987	248023987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttgactcaggaggccaaCgtggggaaaaagactgtcat	12	7	13	9	1	2	2	2	1	0	1	2	4	2	4	2	4	1	0	2	4	3	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:248023987C>T	ENST00000366481.3	+	2	537	c.489C>T	c.(487-489)aaC>aaT	p.N163N		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	163						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGAGGCCAACGTGGGGAAAA	0.483																																						uc001ido.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(487-489)aaC>aaT		Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.							108	106	107					1																	248023987		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248023987C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.489C>T	1.37:g.248023987C>T							p.N163N	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	537	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	163					Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.489C>T	CCDS1636.1																																																																																				0.483	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248023987	C	T	248023987	2	4	37	1	0	0	0	0	0	0	0	1	16528	535	19	1		1	TRIM58	1	248023987	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	42894618	248023987	1226634	7	2266											
GPR45	11250	broad.mit.edu	37	chr2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaatcaaaaaattccGcgaggcctgcatagagttgc	13	8	11	9	2	1	2	1	0	0	2	2	4	2	2	2	2	2	2	2	2	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:105859310G>A	ENST00000258456.1	+	1	1111	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R332H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAAAAATTCCGCGAGGCCTGC	0.557																																						uc002tco.1																			1	Substitution - Missense(1)	p.R332H(2)	stomach(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(994-996)cGc>cAc		Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.							82	87	85					2																	105859310		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859310G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.995G>A	2.37:g.105859310G>A	ENSP00000258456:p.Arg332His						p.R332H	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			0	1111	+			332					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.995G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012829	0.54468	.	.	ENSG00000135973	ENST00000258456	T	0.58358	0.34	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.28115	0.83	0.54753	D	0.999987	P	0.51240	0.943	P	0.47786	0.557	T	0.40924	-0.9537	10	0.33940	T	0.23	-27.9142	17.2936	0.87163	0.0:0.0:1.0:0.0	.	332	Q9Y5Y3	GPR45_HUMAN	H	332	ENSP00000258456:R332H	ENSP00000258456:R332H	R	+	2	0	GPR45	105225742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.545000	0.73883	2.696000	0.92011	0.456000	0.33151	CGC		0.557	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		A	105859310	G	A	105859310	3	1	37	1	0	0	0	0	1	0	0	0	6696	1087	38	1	997	1	GPR45	2	105859310	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		105859310	137340063	8	2267											
ITGA4	3676	broad.mit.edu	37	chr2	182360642	182360642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtttctcatataagggCaaggaagttccaggttacat	11	14	9	7	0	1	0	1	0	1	0	3	1	2	1	1	3	1	4	1	3	5	6	rs200212723		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:182360642C>T	ENST00000397033.2	+	14	1948	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	506					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CATATAAGGGCAAGGAAGTTC	0.428																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1516-1518)ggC>ggT		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)						185	166	172					2																	182360642		1928	4137	6065	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360642C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1518C>T	2.37:g.182360642C>T						ITGA4_uc010frj.1_5'Flank	p.G506G	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		13	2281	+			506					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1518C>T	CCDS42788.1																																																																																				0.428	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182360642	C	T	182360642	2	4	37	1	0	0	0	0	0	0	0	1	7878	697	25	3		3	ITGA4	2	182360642	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	76501332	182360642	60838731	9	2268											
ZDBF2	57683	broad.mit.edu	37	chr2	207175047	207175047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctaagcaaaaggggcGtgtggcttctcaatgccaga	10	8	12	11	1	1	1	1	0	1	1	3	1	2	1	3	3	2	2	3	3	4	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:207175047G>A	ENST00000374423.3	+	5	6181	c.5795G>A	c.(5794-5796)cGt>cAt	p.R1932H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1932							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R1932L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAAGGGGCGTGTGGCTTCT	0.433																																						uc002vbp.2																			2	Substitution - Missense(2)	p.R1932L(3)	lung(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5794-5796)cGt>cAt		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							72	72	72					2																	207175047		1952	4152	6104	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175047G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5795G>A	2.37:g.207175047G>A	ENSP00000363545:p.Arg1932His						p.R1932H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	6045	+			1932					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5795G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.068	-0.413771	0.04799	.	.	ENSG00000204186	ENST00000374423	T	0.50813	0.73	5.64	-0.432	0.12291	.	.	.	.	.	T	0.29945	0.0749	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17745	-1.0359	9	0.40728	T	0.16	.	7.3532	0.26704	0.2472:0.1316:0.6212:0.0	.	1932	Q9HCK1	ZDBF2_HUMAN	H	1932	ENSP00000363545:R1932H	ENSP00000363545:R1932H	R	+	2	0	ZDBF2	206883292	0.024000	0.19004	0.000000	0.03702	0.000000	0.00434	0.489000	0.22387	-0.287000	0.09064	-1.371000	0.01190	CGT		0.433	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207175047	G	A	207175047	3	1	37	1	0	0	0	0	1	0	0	0	17596	1145	40	1	5805	1	ZDBF2	2	207175047	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	24814405	207175047	36024326	10	2269											
THRB	7068	broad.mit.edu	37	chr3	24231704	24231704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgactgttcatttttcaaCgtgctgcgcctctctgaatg	7	14	9	11	3	3	1	2	1	1	0	4	3	3	1	1	0	3	2	1	0	2	3	rs138865141		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:24231704C>T	ENST00000356447.4	-	4	428	c.144G>A	c.(142-144)acG>acA	p.T48T	THRB_ENST00000416420.1_Silent_p.T48T|THRB_ENST00000396671.2_Silent_p.T48T	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	48	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T48T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CATTTTTCAACGTGCTGCGCC	0.493																																					Melanoma(21;896 1043 15021 37958)	uc003ccz.4																			1	Substitution - coding silent(1)	p.T48T(2)|p.T48M(1)	endometrium(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(142-144)acG>acA		Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	Levothyroxine(DB00451)|Liothyronine(DB00279)	C	,,	1,4405	2.1+/-5.4	0,1,2202	228	215	219		144,144,144	-11.9	0	3	dbSNP_134	219	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	THRB	NM_000461.4,NM_001128176.1,NM_001128177.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	48/462,48/462,48/462	24231704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231704C>T		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.144G>A	3.37:g.24231704C>T						THRB_uc010hfe.3_Silent_p.T48T|THRB_uc003ccy.4_Silent_p.T48T|THRB_uc003ccx.4_Silent_p.T48T|THRB_uc003cdc.3_Silent_p.T43T|THRB_uc003cdd.3_Silent_p.T43T|THRB_uc003cde.1_Silent_p.T43T|THRB_uc021wuc.1_Silent_p.T43T	p.T48T	NM_001252634	NP_001239563	P10828	THB_HUMAN			5	664	-			48			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.144G>A	CCDS2641.1																																																																																				0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		T	24231704	C	T	24231704	2	4	37	1	0	0	0	0	0	0	0	1	15872	523	19	1		1	THRB	3	24231704	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		24231704	173790726	11	2270											
BSN	8927	broad.mit.edu	37	chr3	49691996	49691996	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcagtggtagacctccgTacagctgtcaagcccactcc	9	8	9	15	1	1	1	1	0	0	1	3	1	3	1	4	1	4	4	4	1	3	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49691996T>C	ENST00000296452.4	+	5	5121	c.5007T>C	c.(5005-5007)cgT>cgC	p.R1669R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1669					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TAGACCTCCGTACAGCTGTCA	0.597																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(5005-5007)cgT>cgC		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							89	84	85					3																	49691996		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691996T>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5007T>C	3.37:g.49691996T>C							p.R1669R	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	5121	+			1669					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.5007T>C	CCDS2800.1																																																																																				0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		C	49691996	T	C	49691996	2	2	37	1	0	0	0	0	0	0	0	1	1530	1625	57	4		4	BSN	3	49691996	Silent	SNP	T	TCGA-06-0184-01A-01D-1491-08	25460292	49691996	148330434	12	2271											
BSN	8927	broad.mit.edu	37	chr3	49693009	49693009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatcgggcagctcttccaggGtcctggacgagactcggcta	7	8	14	12	3	1	1	0	0	1	1	5	4	3	2	2	4	1	3	2	4	1	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49693009G>A	ENST00000296452.4	+	5	6134	c.6020G>A	c.(6019-6021)gGt>gAt	p.G2007D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2007					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCTTCCAGGGTCCTGGACGA	0.597																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6019-6021)gGt>gAt		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							102	97	99					3																	49693009		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693009G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6020G>A	3.37:g.49693009G>A	ENSP00000296452:p.Gly2007Asp						p.G2007D	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	6134	+			2007					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6020G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611722	0.28712	.	.	ENSG00000164061	ENST00000296452	T	0.17054	2.3	5.1	4.21	0.49690	.	0.454960	0.21506	N	0.073453	T	0.12050	0.0293	N	0.14661	0.345	0.34567	D	0.712963	P	0.50272	0.933	B	0.42386	0.386	T	0.18178	-1.0345	10	0.62326	D	0.03	-16.5453	13.571	0.61847	0.0:0.2521:0.7479:0.0	.	2007	Q9UPA5	BSN_HUMAN	D	2007	ENSP00000296452:G2007D	ENSP00000296452:G2007D	G	+	2	0	BSN	49668013	0.249000	0.23941	0.986000	0.45419	0.876000	0.50452	2.226000	0.42963	2.380000	0.81148	0.561000	0.74099	GGT		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49693009	G	A	49693009	3	1	37	1	0	0	0	0	1	0	0	0	1530	1261	44	3	6038	3	BSN	3	49693009	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	1013	49693009	148329421	13	2272											
CCDC66	285331	broad.mit.edu	37	chr3	56651395	56651395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaaatatcctaaaaGgcctgattggaatataaata	19	10	7	5	0	0	3	0	2	0	1	1	4	1	4	2	2	0	0	2	2	10	6			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:56651395G>A	ENST00000394672.3	+	14	2169	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CCDC66_ENST00000436465.2_Missense_Mutation_p.R700K|CCDC66_ENST00000326595.7_Missense_Mutation_p.R666K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	700					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATCCTAAAAGGCCTGATTGG	0.353																																						uc003dhz.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(2098-2100)aGg>aAg		Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.							56	57	56					3																	56651395		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56651395G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2099G>A	3.37:g.56651395G>A	ENSP00000378167:p.Arg700Lys					CCDC66_uc003dhy.3_Missense_Mutation_p.R336K|CCDC66_uc003dhu.3_Missense_Mutation_p.R666K|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.R68K	p.R700K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	13	2186	+			700					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.2099G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789191	0.31685	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.23348	1.92;1.91;1.92	5.8	0.792	0.18625	.	0.229309	0.42821	N	0.000648	T	0.14098	0.0341	L	0.33668	1.02	0.80722	D	1	B	0.19583	0.037	B	0.16722	0.016	T	0.14090	-1.0485	10	0.15499	T	0.54	-5.8893	5.287	0.15706	0.3391:0.0:0.5369:0.1239	.	700	A2RUB6	CCD66_HUMAN	K	700;666;700	ENSP00000378167:R700K;ENSP00000326050:R666K;ENSP00000404320:R700K	ENSP00000326050:R666K	R	+	2	0	CCDC66	56626435	0.959000	0.32827	0.157000	0.22605	0.945000	0.59286	0.883000	0.28200	0.072000	0.16694	0.655000	0.94253	AGG		0.353	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		A	56651395	G	A	56651395	3	1	37	1	0	0	0	0	1	0	0	0	2838	1000	35	3	2153	3	CCDC66	3	56651395	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	6958386	56651395	141371035	14	2273											
CADPS	8618	broad.mit.edu	37	chr3	62860671	62860671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctcctccacgatctcatCcgattcttcttcgctggacg	5	13	6	17	4	3	0	1	0	3	0	9	3	7	1	4	1	0	1	4	1	0	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:62860671C>G	ENST00000383710.4	-	1	383	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CADPS_ENST00000490353.2_Missense_Mutation_p.D12H|CADPS_ENST00000357948.3_Missense_Mutation_p.D12H|CADPS_ENST00000283269.9_Missense_Mutation_p.D12H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	12					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACGATCTCATCCGATTCTTCT	0.697																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(34-36)Gat>Cat		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							9	10	10					3																	62860671		1790	3943	5733	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62860671C>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.34G>C	3.37:g.62860671C>G	ENSP00000373215:p.Asp12His					CADPS_uc003dlm.2_Missense_Mutation_p.D12H|CADPS_uc003dln.2_Missense_Mutation_p.D12H|CADPS_uc021wzv.1_Missense_Mutation_p.D12H	p.D12H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	0	394	-		Lung SC(41;0.0452)	12					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.34G>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198946	0.58126	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.56103	0.5;0.51;0.5;0.48	5.49	4.59	0.56863	.	0.139939	0.46758	D	0.000265	T	0.55081	0.1898	M	0.71036	2.16	0.45995	D	0.998805	B;B;B	0.31859	0.343;0.343;0.232	B;B;B	0.33690	0.168;0.168;0.081	T	0.60010	-0.7346	10	0.87932	D	0	.	14.5375	0.67971	0.1474:0.8526:0.0:0.0	.	12;12;12	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	H	12	ENSP00000373215:D12H;ENSP00000350632:D12H;ENSP00000283269:D12H;ENSP00000418736:D12H	ENSP00000283269:D12H	D	-	1	0	CADPS	62835711	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.510000	0.67018	1.283000	0.44513	0.650000	0.86243	GAT		0.697	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		G	62860671	C	G	62860671	3	3	37	1	0	0	0	0	1	0	0	0	2570	855	30	5	4220	5	CADPS	3	62860671	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	6209276	62860671	135161759	15	2274											
PDZRN3	23024	broad.mit.edu	37	chr3	73673955	73673955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggtccacgtcgccgtcgaAgcggtccagctcgaagccca	7	5	13	16	7	0	0	0	0	0	0	5	2	2	0	4	2	3	1	4	2	2	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:73673955A>G	ENST00000263666.4	-	1	136	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L	PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.F8L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	8					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGCCGTCGAAGCGGTCCAGC	0.766																																						uc003dpl.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(22-24)Ttc>Ctc		Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.							7	6	7					3																	73673955		2055	4079	6134	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73673955A>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.22T>C	3.37:g.73673955A>G	ENSP00000263666:p.Phe8Leu						p.F8L	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	0	118	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	8					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.22T>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430758	0.83776	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.27256	2.79;1.68	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.45352	1.415	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.25847	-1.0120	10	0.59425	D	0.04	.	12.986	0.58592	1.0:0.0:0.0:0.0	.	8	Q9UPQ7	PZRN3_HUMAN	L	8	ENSP00000263666:F8L;ENSP00000308831:F8L	ENSP00000263666:F8L	F	-	1	0	PDZRN3	73756645	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.481000	0.90437	1.458000	0.47871	0.172000	0.16884	TTC		0.766	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		G	73673955	A	G	73673955	3	3	37	1	0	0	0	0	1	0	0	0	11709	72	3	4	3218	4	PDZRN3	3	73673955	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	10813284	73673955	124348475	16	2275											
CNTN3	5067	broad.mit.edu	37	chr3	74535739	74535739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctccattcaacttataacGatgttccatactcatatcaa	13	14	2	12	1	3	0	3	0	0	0	6	1	6	0	3	0	3	1	3	0	6	6			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:74535739G>A	ENST00000263665.6	-	3	253	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	76	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACTTATAACGATGTTCCATA	0.353																																						uc003dpm.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(226-228)Cgt>Tgt		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.							121	117	118					3																	74535739		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535739G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.226C>T	3.37:g.74535739G>A	ENSP00000263665:p.Arg76Cys						p.R76C	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	2	306	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	76			Ig-like C2-type 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.226C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804846	0.50315	.	.	ENSG00000113805	ENST00000263665	T	0.68903	-0.36	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127387	0.53938	D	0.000050	D	0.86781	0.6015	H	0.97758	4.07	0.09310	N	0.999998	D	0.89917	1.0	D	0.66602	0.945	T	0.83166	-0.0096	10	0.87932	D	0	.	12.5426	0.56179	0.0:0.0:0.8336:0.1663	.	76	Q9P232	CNTN3_HUMAN	C	76	ENSP00000263665:R76C	ENSP00000263665:R76C	R	-	1	0	CNTN3	74618429	0.670000	0.27512	0.010000	0.14722	0.598000	0.36846	3.668000	0.54554	2.763000	0.94921	0.585000	0.79938	CGT		0.353	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		A	74535739	G	A	74535739	3	1	37	1	0	0	0	0	1	0	0	0	3642	1058	37	2	2940	2	CNTN3	3	74535739	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	861784	74535739	123486691	17	2276											
MCM2	4171	broad.mit.edu	37	chr3	127318380	127318380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagctcattggagatGgcatggaaaggtaatttcat	13	10	14	4	0	2	2	2	0	0	2	2	6	2	4	0	5	1	3	0	5	2	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:127318380G>A	ENST00000265056.7	+	2	470	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	76	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CATTGGAGATGGCATGGAAAG	0.567																																						uc003ejp.3																			0				ovary(3)|skin(2)|stomach(1)	6						c.(226-228)Ggc>Agc		Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.							52	51	52					3																	127318380		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127318380G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.226G>A	3.37:g.127318380G>A	ENSP00000265056:p.Gly76Ser					MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript	p.G76S	NM_004526	NP_004517	P49736	MCM2_HUMAN			1	283	+			76			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.226G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104698	0.56291	.	.	ENSG00000073111	ENST00000265056;ENST00000543142;ENST00000480910;ENST00000472731	T;T;T	0.21191	2.02;2.02;2.02	5.2	5.2	0.72013	.	0.163505	0.53938	D	0.000055	T	0.18130	0.0435	N	0.20807	0.61	0.51767	D	0.999931	B	0.24317	0.101	B	0.28385	0.089	T	0.04961	-1.0915	10	0.38643	T	0.18	-46.2224	18.7584	0.91840	0.0:0.0:1.0:0.0	.	76	P49736	MCM2_HUMAN	S	76;76;67;67	ENSP00000265056:G76S;ENSP00000419802:G67S;ENSP00000418930:G67S	ENSP00000265056:G76S	G	+	1	0	MCM2	128801070	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.537000	0.82033	2.417000	0.82017	0.585000	0.79938	GGC		0.567	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			A	127318380	G	A	127318380	3	1	37	1	0	0	0	0	1	0	0	0	9386	1348	47	3	232	3	MCM2	3	127318380	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	52782641	127318380	70704050	18	2277											
RUFY3	22902	broad.mit.edu	37	chr4	71644115	71644115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaaccttcaggcaaaagTagatgcattagaaaaatcca	20	7	6	8	0	1	2	1	0	0	2	2	2	2	2	2	1	3	3	2	1	8	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:71644115T>A	ENST00000226328.4	+	8	1417	c.854T>A	c.(853-855)gTa>gAa	p.V285E	RUFY3_ENST00000417478.2_Missense_Mutation_p.V345E|RUFY3_ENST00000381006.3_Missense_Mutation_p.V285E|RUFY3_ENST00000502653.1_Missense_Mutation_p.V232E|RUFY3_ENST00000536664.1_Missense_Mutation_p.V269E	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	285					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGCAAAAGTAGATGCATTA	0.313																																						uc003hfr.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(853-855)gTa>gAa		Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.							74	78	76					4																	71644115		2203	4299	6502	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71644115T>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.854T>A	4.37:g.71644115T>A	ENSP00000226328:p.Val285Glu					RUFY3_uc003hfp.4_Missense_Mutation_p.V345E|RUFY3_uc003hfq.3_Missense_Mutation_p.V285E|RUFY3_uc011cax.2_Missense_Mutation_p.V303E|RUFY3_uc011cay.2_Missense_Mutation_p.V221E	p.V285E	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		7	1449	+		all_hematologic(202;0.248)	285					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.854T>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425106	0.83667	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.69823	2.125	0.80722	D	1	D;D;D;P	0.76494	0.999;0.983;0.998;0.928	D;P;D;P	0.76071	0.979;0.846;0.987;0.828	D	0.88603	0.3151	10	0.87932	D	0	-23.5564	15.867	0.79071	0.0:0.0:0.0:1.0	.	269;285;285;345	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	E	345;285;285;269;232	ENSP00000399771:V345E;ENSP00000370394:V285E;ENSP00000226328:V285E;ENSP00000443652:V269E;ENSP00000425400:V232E	ENSP00000226328:V285E	V	+	2	0	RUFY3	71862979	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.304000	0.78882	2.220000	0.72140	0.533000	0.62120	GTA		0.313	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		A	71644115	T	A	71644115	3	1	37	1	0	0	0	0	1	0	0	0	13740	1638	57	5	1246	5	RUFY3	4	71644115	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		71644115	119510161	19	2278											
LARP1B	55132	broad.mit.edu	37	chr4	128999066	128999066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaattaaatggtcctGgtgaaaacgtcagtgaggat	17	9	10	5	1	1	2	1	2	0	0	2	3	2	3	1	3	2	0	1	3	7	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:128999066G>C	ENST00000326639.6	+	4	377	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R	LARP1B_ENST00000512292.1_Missense_Mutation_p.G56R|LARP1B_ENST00000427266.1_Missense_Mutation_p.G56R|LARP1B_ENST00000394288.3_Missense_Mutation_p.G56R|LARP1B_ENST00000441387.1_Missense_Mutation_p.G56R|LARP1B_ENST00000264584.5_Missense_Mutation_p.G56R|LARP1B_ENST00000432347.2_Missense_Mutation_p.G56R|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	56						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAATGGTCCTGGTGAAAACGT	0.343																																						uc003iga.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(166-168)Ggt>Cgt		Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.							107	106	107					4																	128999066		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:128999066G>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.166G>C	4.37:g.128999066G>C	ENSP00000321997:p.Gly56Arg					LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ifx.3_Missense_Mutation_p.G56R|LARP1B_uc003ify.3_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	p.G56R	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			3	297	+			56					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.166G>C	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.824|7.824	0.718344|0.718344	0.15372|0.15372	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T;T;T|.	0.49432|.	1.87;1.4;1.48;0.81;0.78;1.92;1.86;1.39|.	3.88|3.88	0.968|0.968	0.19680|0.19680	.|.	0.769546|.	0.11447|.	N|.	0.563180|.	T|T	0.55433|0.55433	0.1920|0.1920	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;P|.	0.46512|.	0.822;0.741;0.741;0.879|.	P;P;B;P|.	0.48921|.	0.456;0.472;0.347;0.595|.	T|T	0.45600|0.45600	-0.9250|-0.9250	10|5	0.12766|.	T|.	0.61|.	.|.	6.7633|6.7633	0.23552|0.23552	0.3286:0.0:0.6714:0.0|0.3286:0.0:0.6714:0.0	.|.	56;56;56;56|.	Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.	LAR1B_HUMAN;.;.;.|.	R|S	56|24	ENSP00000321997:G56R;ENSP00000422850:G56R;ENSP00000427281:G56R;ENSP00000377829:G56R;ENSP00000390395:G56R;ENSP00000264584:G56R;ENSP00000396521:G56R;ENSP00000403586:G56R|.	ENSP00000264584:G56R|.	G|W	+|+	1|2	0|0	LARP1B|LARP1B	129218516|129218516	0.999000|0.999000	0.42202|0.42202	0.489000|0.489000	0.27452|0.27452	0.226000|0.226000	0.24999|0.24999	1.032000|1.032000	0.30178|0.30178	0.052000|0.052000	0.16007|0.16007	0.289000|0.289000	0.19496|0.19496	GGT|TGG		0.343	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		C	128999066	G	C	128999066	3	2	37	1	0	0	0	0	1	0	0	0	8629	1348	47	5	172	5	LARP1B	4	128999066	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	57354951	128999066	62155210	20	2279											
PHF17	79960	broad.mit.edu	37	chr4	129770219	129770219	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcctcccgagttgggCtatgtggacatccggacgct	6	10	13	12	3	1	1	0	1	1	0	3	4	3	3	3	3	1	3	3	3	1	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:129770219C>G	ENST00000226319.6	+	5	661	c.381C>G	c.(379-381)ggC>ggG	p.G127G	PHF17_ENST00000413543.2_Silent_p.G127G|PHF17_ENST00000512960.1_Silent_p.G127G|PHF17_ENST00000511647.1_Silent_p.G127G|PHF17_ENST00000452328.2_Silent_p.G115G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGAGTTGGGCTATGTGGACA	0.488																																						uc011cgy.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(379-381)ggC>ggG		Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.							171	145	153					4																	129770219		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770219C>G																												ENST00000226319.6:c.381C>G	4.37:g.129770219C>G						PHF17_uc003igj.3_Silent_p.G127G|PHF17_uc003igk.3_Silent_p.G127G|PHF17_uc003igl.3_Silent_p.G115G|PHF17_uc003igm.3_Silent_p.G127G	p.G127G	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			4	695	+			127						Silent	SNP	ENST00000226319.6	37	c.381C>G	CCDS34062.1																																																																																				0.488	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			G	129770219	C	G	129770219	2	3	37	1	0	0	0	0	0	0	0	1	11828	784	28	5		5	PHF17	4	129770219	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	771153	129770219	61384057	21	2280											
PCDH18	54510	broad.mit.edu	37	chr4	138442740	138442740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttgggaattcttcccCtggaatgaacatgttactcc	8	14	9	10	1	1	1	0	1	1	0	3	3	3	3	3	2	3	2	3	2	4	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:138442740C>G	ENST00000344876.4	-	4	3237	c.2851G>C	c.(2851-2853)Ggg>Cgg	p.G951R	PCDH18_ENST00000511115.1_Missense_Mutation_p.G131R|PCDH18_ENST00000510305.1_Missense_Mutation_p.G162R|PCDH18_ENST00000412923.2_Missense_Mutation_p.G950R|PCDH18_ENST00000507846.1_Missense_Mutation_p.G730R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	951	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATTCTTCCCCTGGAATGAAC	0.532																																						uc003ihe.4																			0		p.G951E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2851-2853)Ggg>Cgg		Homo sapiens protocadherin 18 (PCDH18), mRNA.							148	143	145					4																	138442740		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442740C>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2851G>C	4.37:g.138442740C>G	ENSP00000355082:p.Gly951Arg					PCDH18_uc003ihf.4_Missense_Mutation_p.G943R|PCDH18_uc011cgz.2_Missense_Mutation_p.G162R|PCDH18_uc003ihg.4_Missense_Mutation_p.G730R|PCDH18_uc011cha.2_Missense_Mutation_p.G131R	p.G951R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			3	3238	-	all_hematologic(180;0.24)		951			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2851G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921616	0.73213	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55930	0.57;0.6;0.49;1.38;1.37	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000520	T	0.74741	0.3756	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.987;0.999	T	0.78183	-0.2303	10	0.87932	D	0	.	18.9255	0.92541	0.0:1.0:0.0:0.0	.	131;730;950;951	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	R	951;950;730;162;131	ENSP00000355082:G951R;ENSP00000390688:G950R;ENSP00000425903:G730R;ENSP00000424269:G162R;ENSP00000425647:G131R	ENSP00000355082:G951R	G	-	1	0	PCDH18	138662190	1.000000	0.71417	0.189000	0.23252	0.868000	0.49771	7.284000	0.78650	2.477000	0.83638	0.655000	0.94253	GGG		0.532	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		G	138442740	C	G	138442740	3	3	37	1	0	0	0	0	1	0	0	0	11513	681	24	5	560	5	PCDH18	4	138442740	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	8672521	138442740	52711536	22	2281											
CDH18	1016	broad.mit.edu	37	chr5	19747261	19747261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggatatcacccgtggtatCgtcaatgataaatatagtcc	12	12	9	8	2	2	1	2	1	0	0	4	2	3	2	2	2	0	1	2	2	7	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:19747261C>T	ENST00000507958.1	-	6	1303	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_ENST00000502796.1_Missense_Mutation_p.D105N|CDH18_ENST00000382275.1_Missense_Mutation_p.D105N|CDH18_ENST00000511273.1_Missense_Mutation_p.D105N|CDH18_ENST00000274170.4_Missense_Mutation_p.D105N|CDH18_ENST00000506372.1_Missense_Mutation_p.D105N			Q13634	CAD18_HUMAN	cadherin 18, type 2	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D104_D105>EY(2)|p.D105Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438																																						uc003jgd.3																			4	Substitution - Missense(2)|Complex - compound substitution(2)	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)	lung(4)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(313-315)Gat>Aat		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							199	177	184					5																	19747261		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747261C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.313G>A	5.37:g.19747261C>T	ENSP00000425093:p.Asp105Asn					CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	847	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		105			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.313G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974301	0.92919	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.23	5.23	0.72850	Cadherin (5);Cadherin-like (1);	0.049153	0.85682	D	0.000000	T	0.52597	0.1744	N	0.21142	0.635	0.58432	D	0.999997	P;D	0.67145	0.906;0.996	P;D	0.63033	0.457;0.91	T	0.49093	-0.8975	9	.	.	.	.	17.3587	0.87344	0.0:1.0:0.0:0.0	.	105;105	B4DHG6;Q13634	.;CAD18_HUMAN	N	105;105;105;105;105;105;51;105	ENSP00000371710:D105N;ENSP00000425093:D105N;ENSP00000274170:D105N;ENSP00000424931:D105N;ENSP00000422138:D105N;ENSP00000427383:D51N;ENSP00000425854:D105N	.	D	-	1	0	CDH18	19783018	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.412000	0.80091	2.441000	0.82636	0.591000	0.81541	GAT		0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19747261	C	T	19747261	3	4	37	1	0	0	0	0	1	0	0	0	3103	884	31	2	2099	2	CDH18	5	19747261	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		19747261	161167999	23	2282											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683134	33683134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgttacctcttcttcttCgagtagaatgagccgaacca	12	12	7	10	2	3	2	0	1	3	1	4	4	3	2	3	0	3	2	3	0	5	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:33683134C>T	ENST00000504830.1	-	5	1239	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E302K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	302	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Glu.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTCTTCTTCGAGTAGAATG	0.423										HNSCC(64;0.19)																												uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(904-906)Gaa>Aaa		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							108	99	102					5																	33683134		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683134C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.904G>A	5.37:g.33683134C>T	ENSP00000422554:p.Glu302Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	p.E302K	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	1067	-			302			Peptidase M12B.|Poly-Glu.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.904G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929841	0.92389	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.86562	-2.14;-2.14	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.161534	0.56097	D	0.000036	D	0.91253	0.7243	L	0.59967	1.855	0.80722	D	1	D;D	0.76494	0.999;0.994	P;P	0.59012	0.848;0.85	D	0.90636	0.4571	10	0.46703	T	0.11	.	19.5316	0.95231	0.0:1.0:0.0:0.0	.	302;302	P58397-3;P58397	.;ATS12_HUMAN	K	302	ENSP00000422554:E302K;ENSP00000344847:E302K	ENSP00000344847:E302K	E	-	1	0	ADAMTS12	33718891	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	3.545000	0.53648	2.615000	0.88500	0.637000	0.83480	GAA		0.423	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33683134	C	T	33683134	3	4	37	1	0	0	0	0	1	0	0	0	257	893	31	2	3960	2	ADAMTS12	5	33683134	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	13935873	33683134	147232126	24	2283											
MATR3	9782	broad.mit.edu	37	chr5	138657666	138657666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaagccctttggtttcaggGgagatgtgtgaaggttgacc	10	11	14	6	0	1	3	1	2	0	1	1	4	1	3	2	4	1	2	2	4	3	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:138657666G>A	ENST00000394805.3	+	10	2017	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	MATR3_ENST00000502499.1_Missense_Mutation_p.G223E|MATR3_ENST00000394800.2_Missense_Mutation_p.G561E|MATR3_ENST00000503811.1_Missense_Mutation_p.G273E|MATR3_ENST00000510056.1_Missense_Mutation_p.G561E|MATR3_ENST00000504203.1_Missense_Mutation_p.G223E|MATR3_ENST00000502929.1_Missense_Mutation_p.G561E|MATR3_ENST00000361059.2_Missense_Mutation_p.G561E|MATR3_ENST00000509990.1_Missense_Mutation_p.G561E	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	561	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTTTCAGGGGAGATGTGTG	0.348																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1681-1683)gGg>gAg		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							138	139	138					5																	138657666		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138657666G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1682G>A	5.37:g.138657666G>A	ENSP00000378284:p.Gly561Glu					MATR3_uc003ldt.3_Missense_Mutation_p.G223E|MATR3_uc003ldu.3_Missense_Mutation_p.G561E|MATR3_uc010jfb.3_Missense_Mutation_p.G561E|MATR3_uc003ldx.3_Missense_Mutation_p.G561E|MATR3_uc003ldy.3_Missense_Mutation_p.G238E|MATR3_uc003ldz.3_Missense_Mutation_p.G561E|MATR3_uc011czb.2_Missense_Mutation_p.G273E|MATR3_uc003leb.3_Missense_Mutation_p.G223E|MATR3_uc003lec.3_Missense_Mutation_p.G238E	p.G561E	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	2085	+			561			RRM 2.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1682G>A	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.247127|4.247127	0.80024|0.80024	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811|ENST00000515833	T;T;T;T;T;T;T;T;T|T	0.76448|0.69926	-0.99;-0.99;-0.54;-0.99;-0.99;-0.99;-0.54;-1.02;-0.5|-0.44	5.09|5.09	4.22|4.22	0.49857|0.49857	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.203990|0.203990	0.52532|0.52532	D|D	0.000079|0.000079	T|T	0.76535|0.76535	0.4001|0.4001	M|M	0.76328|0.76328	2.33|2.33	0.47659|0.47659	D|D	0.999489|0.999489	D;D;D;D;D;D|.	0.89917|.	1.0;0.967;1.0;0.967;1.0;0.967|.	D;P;D;P;D;P|.	0.97110|.	1.0;0.766;1.0;0.766;0.998;0.766|.	T|T	0.77963|0.77963	-0.2390|-0.2390	10|8	0.51188|0.49607	T|T	0.08|0.09	-6.2931|-6.2931	13.5988|13.5988	0.62007|0.62007	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	.|.	273;561;273;561;561;561|.	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243|.	.;.;.;.;.;MATR3_HUMAN|.	E|R	561;561;223;561;561;561;223;561;273|321	ENSP00000423533:G561E;ENSP00000354346:G561E;ENSP00000421218:G223E;ENSP00000422319:G561E;ENSP00000378279:G561E;ENSP00000378284:G561E;ENSP00000426030:G223E;ENSP00000426743:G561E;ENSP00000423587:G273E|ENSP00000422054:G321R	ENSP00000354346:G561E|ENSP00000422054:G321R	G|G	+|+	2|1	0|0	MATR3|MATR3	138685565|138685565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.156000|7.156000	0.77453|0.77453	1.275000|1.275000	0.44379|0.44379	0.557000|0.557000	0.71058|0.71058	GGG|GGA		0.348	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		A	138657666	G	A	138657666	3	1	37	1	0	0	0	0	1	0	0	0	9337	1232	43	3	1716	3	MATR3	5	138657666	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	104974532	138657666	42257594	25	2284											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856716	140856716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggaggttgtggatGtgaatgacaacgccccggag	8	10	17	6	2	0	2	0	2	0	0	0	5	0	5	2	5	1	2	2	5	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:140856716G>A	ENST00000308177.3	+	1	1137	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	PCDHGB2_ENST00000522605.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGTGGATGTGAATGACAA	0.547																																						uc003lkv.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1033-1035)Gtg>Atg		Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.							76	65	69					5																	140856716		2203	4300	6503	SO:0001583	missense	5098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140856716G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1033G>A	5.37:g.140856716G>A	ENSP00000312070:p.Val345Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC5_uc003lkw.2_Intron	p.V345M	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1148	+			343			Cadherin 3.		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1033G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870453	0.51588	.	.	ENSG00000240184	ENST00000308177	T	0.63744	-0.06	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.81361	0.4806	M	0.89095	3.005	0.24705	N	0.993239	D;D	0.76494	0.999;0.999	D;D	0.73380	0.956;0.98	T	0.74393	-0.3680	9	0.59425	D	0.04	.	12.8313	0.57748	0.0738:0.0:0.9262:0.0	.	345;345	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	345	ENSP00000312070:V345M	ENSP00000312070:V345M	V	+	1	0	PCDHGC3	140836900	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.082000	0.50128	2.865000	0.98341	0.655000	0.94253	GTG		0.547	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		A	140856716	G	A	140856716	3	1	37	1	0	0	0	0	1	0	0	0	11569	1377	48	3	1035	3	PCDHGC3	5	140856716	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	2199050	140856716	40058544	26	2285											
EBF1	1879	broad.mit.edu	37	chr5	158140057	158140057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgcccatcatccctgcGtggaccgaggtgttagcaag	8	9	11	13	3	2	0	2	0	0	0	3	2	3	1	3	2	2	2	3	2	2	2	rs570120838		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:158140057G>A	ENST00000313708.6	-	13	1572	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								G|||	1	0.000199681	0	0	5008	,	,		17081	0		0	False		,,,				2504	0.001					uc010jip.3				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0		p.H430Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1288-1290)caC>caT		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							127	107	114					5																	158140057		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140057G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1290C>T	5.37:g.158140057G>A						EBF1_uc011ddw.2_Silent_p.H298H|EBF1_uc011ddx.2_Silent_p.H431H|EBF1_uc003lxl.4_Silent_p.H399H	p.H430H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1592	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	430					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1290C>T	CCDS4343.1																																																																																				0.557	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		A	158140057	G	A	158140057	2	1	37	1	0	0	0	0	0	0	0	1	4880	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	17283341	158140057	22775203	27	2286											
FGD2	221472	broad.mit.edu	37	chr6	36993651	36993651	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtctgcctccactgctaCgcattcctcactggaaatgt	8	11	8	14	2	2	0	1	0	1	0	4	2	4	1	3	1	3	2	3	1	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:36993651C>T	ENST00000274963.8	+	14	1713	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	514					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCACTGCTACGCATTCCTCA	0.612																																						uc010jwp.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1540-1542)taC>taT		Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.							130	98	109					6																	36993651		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36993651C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1542C>T	6.37:g.36993651C>T						FGD2_uc003ong.2_Silent_p.Y236Y|FGD2_uc011dtv.1_Silent_p.Y142Y|FGD2_uc003onj.1_Silent_p.Y91Y	p.Y514Y	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			13	1713	+			514					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1542C>T	CCDS4829.1																																																																																				0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		T	36993651	C	T	36993651	2	4	37	1	0	0	0	0	0	0	0	1	5833	547	19	1		1	FGD2	6	36993651	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		36993651	134121416	28	2287											
REV3L	5980	broad.mit.edu	37	chr6	111696862	111696862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctaacgttccatctccaAagtgacagtctataaaacca	14	12	4	11	1	3	1	0	1	3	0	5	1	4	1	3	0	2	1	3	0	5	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:111696862A>T	ENST00000358835.3	-	14	3150	c.2696T>A	c.(2695-2697)tTt>tAt	p.F899Y	REV3L_ENST00000435970.1_Missense_Mutation_p.F821Y|REV3L_ENST00000368802.3_Missense_Mutation_p.F899Y|REV3L_ENST00000368805.1_Missense_Mutation_p.F899Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	899					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCCATCTCCAAAGTGACAGTC	0.378								DNA polymerases (catalytic subunits)																														uc003puy.4																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(2695-2697)tTt>tAt	DNA polymerases (catalytic subunits)	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.							92	94	93					6																	111696862		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696862A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2696T>A	6.37:g.111696862A>T	ENSP00000351697:p.Phe899Tyr					REV3L_uc003pux.4_Missense_Mutation_p.F821Y|REV3L_uc003puz.4_Missense_Mutation_p.F821Y	p.F899Y	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	12	3037	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	899					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2696T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	17.76	3.467564	0.63625	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01430	5.0;5.0;5.0;4.9	5.67	5.67	0.87782	Ribonuclease H-like (1);	0.513851	0.20501	N	0.091098	T	0.01222	0.0040	L	0.51422	1.61	0.35234	D	0.777156	P	0.47106	0.89	B	0.43413	0.419	T	0.68334	-0.5436	10	0.36615	T	0.2	-14.2357	15.9192	0.79547	1.0:0.0:0.0:0.0	.	899	O60673	DPOLZ_HUMAN	Y	899;899;899;821	ENSP00000357792:F899Y;ENSP00000357795:F899Y;ENSP00000351697:F899Y;ENSP00000402003:F821Y	ENSP00000351697:F899Y	F	-	2	0	REV3L	111803555	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.031000	0.70911	2.164000	0.68074	0.533000	0.62120	TTT		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111696862	A	T	111696862	3	4	37	1	0	0	0	0	1	0	0	0	13240	14	1	5	6776	5	REV3L	6	111696862	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	74703211	111696862	59418205	29	2288											
DNAH11	8701	broad.mit.edu	37	chr7	21698496	21698496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaagccatagtggcctaCgaggaaaaacctagggaact	16	5	11	9	1	0	1	0	0	0	1	0	4	0	3	3	3	4	0	3	3	7	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:21698496C>T	ENST00000409508.3	+	30	5206	c.5175C>T	c.(5173-5175)taC>taT	p.Y1725Y	DNAH11_ENST00000328843.6_Silent_p.Y1730Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1730	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGTGGCCTACGAGGAAAAAC	0.443									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5188-5190)taC>taT		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							57	54	55					7																	21698496		1855	4084	5939	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21698496C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5175C>T	7.37:g.21698496C>T							p.Y1730Y	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			29	5221	+			1730			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5190C>T																																																																																					0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21698496	C	T	21698496	2	4	37	1	0	0	0	0	0	0	0	1	4599	547	19	1		1	DNAH11	7	21698496	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		21698496	137440167	30	2289											
GNAT3	346562	broad.mit.edu	37	chr7	80088110	80088110	+	Frame_Shift_Del	DEL	T	T	-																															gaataaatttccttatcttcTttttttaaattcaggtctag																										TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:80088110delT	ENST00000398291.3	-	8	1035	c.942delA	c.(940-942)aaafs	p.K314fs	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	314					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCTTATCTTCTTTTTTTAAAT	0.328																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(940-942)aaafs		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							70	69	70					7																	80088110		1817	4090	5907	SO:0001589	frameshift_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80088110delT		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.942delA	7.37:g.80088110delT	ENSP00000381339:p.Lys314fs					CD36_uc003uhc.3_Intron	p.K314fs	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			7	942	-			314					A4D1B2|A4D1B3|B9EJG5	Frame_Shift_Del	DEL	ENST00000398291.3	37	c.942delA	CCDS47625.1																																																																																				0.328	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		-	80088110	T	-	80088110	7	5	37	1	0	1	0	1	0	0	0	0	6513	1606	56	0	124	0	GNAT3	7	80088110	Frame_Shift_Del	DEL	T	TCGA-06-0184-01A-01D-1491-08	58389614	80088110	79050553	31	2290											
ZAN	7455	broad.mit.edu	37	chr7	100364655	100364655	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacctgcacagcctcGggtgacccccactacctgac	7	5	9	20	2	0	2	0	2	0	0	1	2	0	2	7	1	3	1	7	1	1	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:100364655G>T	ENST00000348028.3	+	0	4800				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCACAGCCTCGGGTGACCCCC	0.607																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(4633-4635)tcG>tcT		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							84	89	88					7																	100364655		2180	4282	6462			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364655G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364655G>T						ZAN_uc003uwk.3_Silent_p.S1545S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.S122S	p.S1545S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		24	4800	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1545			VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.4635G>T																																																																																					0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100364655	G	T	100364655	1	4	37	0	1	0	0	0	0	0	0	0	17510	1103	39	5		5	ZAN	7	100364655	RNA	SNP	G	TCGA-06-0184-01A-01D-1491-08	20276545	100364655	58774008	32	2291											
CUL1	8454	broad.mit.edu	37	chr7	148457457	148457457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgaagatgatgcatttGcaaagggccctacgttaaca	14	10	10	7	1	0	4	0	3	0	1	0	4	0	4	1	1	4	3	1	1	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:148457457G>A	ENST00000325222.4	+	7	937	c.658G>A	c.(658-660)Gca>Aca	p.A220T	CUL1_ENST00000409469.1_Missense_Mutation_p.A220T|CUL1_ENST00000602748.1_Missense_Mutation_p.A220T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGATGCATTTGCAAAGGGCCC	0.338																																						uc010lpg.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(658-660)Gca>Aca		Homo sapiens cullin 1 (CUL1), mRNA.							118	134	129					7																	148457457		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457457G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.658G>A	7.37:g.148457457G>A	ENSP00000326804:p.Ala220Thr					CUL1_uc003wey.3_Missense_Mutation_p.A220T|CUL1_uc003wez.3_Missense_Mutation_p.A110T	p.A220T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		6	1184	+	Melanoma(164;0.15)		220					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.658G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491954	0.44352	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.29655	1.56;1.56	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.049898	0.85682	D	0.000000	T	0.26557	0.0649	L	0.33485	1.01	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.03344	-1.1046	10	0.31617	T	0.26	-23.1067	17.2933	0.87163	0.0:0.0:1.0:0.0	.	220	Q13616	CUL1_HUMAN	T	220;220;178;147	ENSP00000387160:A220T;ENSP00000326804:A220T	ENSP00000326804:A220T	A	+	1	0	CUL1	148088390	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.175000	0.77632	2.377000	0.81083	0.585000	0.79938	GCA		0.338	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		A	148457457	G	A	148457457	3	1	37	1	0	0	0	0	1	0	0	0	4054	1319	46	3	680	3	CUL1	7	148457457	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	48092802	148457457	10681206	33	2292											
CNTLN	54875	broad.mit.edu	37	chr9	17135249	17135249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgggtgggtgaagaaggGtcagggggccggcgagggcc	7	5	22	7	2	2	2	1	1	1	1	2	3	2	2	2	7	0	0	2	7	2	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:17135249G>A	ENST00000380647.3	+	1	270	c.186G>A	c.(184-186)ggG>ggA	p.G62G	CNTLN_ENST00000262360.5_Silent_p.G62G|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Silent_p.G62G|CNTLN_ENST00000380641.4_Silent_p.G62G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	62					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTGAAGAAGGGTCAGGGGGCC	0.672																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(184-186)ggG>ggA		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							13	18	17					9																	17135249		1912	4101	6013	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17135249G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.186G>A	9.37:g.17135249G>A						CNTLN_uc003zmx.4_Silent_p.G62G|CNTLN_uc003zmy.3_Silent_p.G62G|CNTLN_uc003zmw.2_Silent_p.G62G	p.G62G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	0	212	+			62					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.186G>A	CCDS43789.1																																																																																				0.672	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17135249	G	A	17135249	2	1	37	1	0	0	0	0	0	0	0	1	3639	1248	44	3		3	CNTLN	9	17135249	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08		17135249	124078182	34	2293											
TEK	7010	broad.mit.edu	37	chr9	27229172	27229172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctacgtgaataccaCgctttatgagaagtttactt	12	12	7	10	2	0	3	0	2	0	2	0	4	0	3	3	0	3	2	3	0	6	7			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:27229172C>T	ENST00000380036.4	+	23	3759	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	TEK_ENST00000519097.1_Missense_Mutation_p.T958M|TEK_ENST00000406359.4_Missense_Mutation_p.T1063M	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1106					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1106M(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GTGAATACCACGCTTTATGAG	0.453																																						uc011lno.2																			1	Substitution - Missense(1)	p.T1106M(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3187-3189)aCg>aTg		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							182	164	170					9																	27229172		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27229172C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3317C>T	9.37:g.27229172C>T	ENSP00000369375:p.Thr1106Met					TEK_uc003zqi.4_Missense_Mutation_p.T1106M|TEK_uc011lnp.2_Missense_Mutation_p.T958M	p.T1063M	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	21	3630	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1106			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3188C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485377	0.84854	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69435	-0.4;-0.4;-0.4	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000065	T	0.68577	0.3016	N	0.08118	0	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.927;0.931;0.995	T	0.76769	-0.2837	10	0.87932	D	0	.	18.8488	0.92218	0.0:1.0:0.0:0.0	.	958;1139;1106	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	M	958;1106;1063	ENSP00000430686:T958M;ENSP00000369375:T1106M;ENSP00000383977:T1063M	ENSP00000369375:T1106M	T	+	2	0	TEK	27219172	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.825000	0.75293	2.565000	0.86533	0.655000	0.94253	ACG		0.453	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27229172	C	T	27229172	3	4	37	1	0	0	0	0	1	0	0	0	15748	536	19	1	3407	1	TEK	9	27229172	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	10093923	27229172	113984259	35	2294											
NFX1	4799	broad.mit.edu	37	chr9	33294757	33294757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagagtcaagaaagcacAgagtcttgctgagcagacct	14	8	10	9	0	3	5	2	1	1	4	3	5	3	5	1	0	3	3	1	0	3	2	rs147195056		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:33294757A>C	ENST00000379540.3	+	2	427	c.365A>C	c.(364-366)cAg>cCg	p.Q122P	NFX1_ENST00000318524.6_Missense_Mutation_p.Q122P|NFX1_ENST00000379521.4_Missense_Mutation_p.Q122P	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	122					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAGAAAGCACAGAGTCTTGCT	0.483																																						uc003zsr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(364-366)cAg>cCg		Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.							111	113	112					9																	33294757		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294757A>C	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.365A>C	9.37:g.33294757A>C	ENSP00000368856:p.Gln122Pro					NFX1_uc011lnw.2_Missense_Mutation_p.Q122P|NFX1_uc003zso.3_Missense_Mutation_p.Q122P|NFX1_uc003zsp.2_Missense_Mutation_p.Q122P|NFX1_uc010mjr.2_Missense_Mutation_p.Q122P|NFX1_uc003zsq.3_Missense_Mutation_p.Q122P	p.Q122P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	1	518	+			122					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.365A>C	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831905	0.32421	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.43294	0.95;0.95;0.95	5.31	5.31	0.75309	.	0.094910	0.46442	D	0.000281	T	0.50120	0.1597	L	0.32530	0.975	0.19575	N	0.999961	D;D;D;D;D	0.71674	0.998;0.991;0.991;0.995;0.998	P;P;P;P;P	0.62649	0.905;0.69;0.69;0.77;0.905	T	0.45469	-0.9259	10	0.59425	D	0.04	.	13.2187	0.59875	1.0:0.0:0.0:0.0	.	122;6;122;122;122	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	P	122	ENSP00000368856:Q122P;ENSP00000368836:Q122P;ENSP00000317695:Q122P	ENSP00000317695:Q122P	Q	+	2	0	NFX1	33284757	0.730000	0.28100	0.074000	0.20217	0.210000	0.24377	3.456000	0.53000	2.000000	0.58554	0.450000	0.29827	CAG		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			C	33294757	A	C	33294757	3	2	37	1	0	0	0	0	1	0	0	0	10387	188	7	5	371	5	NFX1	9	33294757	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	6065585	33294757	107918674	36	2295											
ZNF33B	7582	broad.mit.edu	37	chr10	43088980	43088980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaaggatttcccacacTcaagacattcaaaaggtttc	16	9	6	10	0	2	1	2	0	0	1	4	3	3	2	1	2	0	1	1	2	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:43088980T>C	ENST00000359467.3	-	5	1532	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTCCCACACTCAAGACATTC	0.383																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			0		p.E473*(1)|p.E473Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1417-1419)gAg>gGg		Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.							91	87	89					10																	43088980		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088980T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1418A>G	10.37:g.43088980T>C	ENSP00000352444:p.Glu473Gly					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361G|ZNF33B_uc001jad.3_Intron	p.E473G	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			4	1533	-			473					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1418A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.596683	0.28445	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.18810	2.19	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.262056	0.20071	N	0.099862	T	0.17746	0.0426	L	0.43701	1.375	0.09310	N	1	P	0.36183	0.542	B	0.36186	0.219	T	0.14504	-1.0470	10	0.72032	D	0.01	.	9.0257	0.36227	0.0:0.0:0.0:1.0	.	473	Q06732	ZN33B_HUMAN	G	473;439	ENSP00000352444:E473G	ENSP00000352444:E473G	E	-	2	0	ZNF33B	42408986	0.000000	0.05858	0.573000	0.28510	0.832000	0.47134	0.299000	0.19138	1.449000	0.47699	0.341000	0.21757	GAG		0.383	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		C	43088980	T	C	43088980	3	2	37	1	0	0	0	0	1	0	0	0	17852	1551	54	4	922	4	ZNF33B	10	43088980	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		43088980	92445767	37	2296											
PTEN	5728	broad.mit.edu	37	chr10	89653809	89653809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaaacattattgctatggGatttcctgcagaaagacttg	12	13	8	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	2	2	1	4	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:89653809G>A	ENST00000371953.3	+	2	1464	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in glioma). {ECO:0000269|PubMed:9090379}.|G -> R (in endometrial hyperplasia). {ECO:0000269|PubMed:9635567}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.G36E(4)|p.Y27fs*1(2)|p.G36V(2)|p.G36fs*18(1)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTGCTATGGGATTTCCTGCA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(6)|Deletion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)	p.0?(37)|p.G36E(8)|p.?(8)|p.G36R(4)|p.G36V(4)|p.G36fs*18(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36*(1)|p.M35R(1)	prostate(15)|central_nervous_system(13)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(106-108)gGa>gAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							109	110	109					10																	89653809		2203	4296	6499	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653809G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.107G>A	10.37:g.89653809G>A	ENSP00000361021:p.Gly36Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G36E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1139	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	36		G -> E (in glioma).|G -> R (in endometrial hyperplasia).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.107G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100775	0.94245	.	.	ENSG00000171862	ENST00000371953	D	0.98717	-5.09	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98886	1.0771	9	.	.	.	-0.2255	17.4682	0.87639	0.0:0.0:1.0:0.0	.	36	P60484	PTEN_HUMAN	E	36	ENSP00000361021:G36E	.	G	+	2	0	PTEN	89643789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	GGA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89653809	G	A	89653809	3	1	37	1	0	0	0	0	1	0	0	0	12738	1174	41	3	113	3	PTEN	10	89653809	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	46564829	89653809	45880938	38	2297											
GPR120	338557	broad.mit.edu	37	chr10	95347103	95347103	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatggtctccttcttcAtcatgtggagccccatcatc	6	14	6	15	0	6	0	4	0	2	0	9	1	7	1	4	2	1	0	4	2	0	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:95347103A>C	ENST00000371483.4	+	4	927	c.871A>C	c.(871-873)Atc>Ctc	p.I291L	FFAR4_ENST00000371481.4_Missense_Mutation_p.I275L|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	291					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTCCTTCTTCATCATGTGGAG	0.582																																						uc010qnt.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						c.(871-873)Atc>Ctc		Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.							195	179	184					10																	95347103		2203	4300	6503	SO:0001583	missense	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95347103A>C		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.871A>C	10.37:g.95347103A>C	ENSP00000360538:p.Ile291Leu					O3FAR1_uc010qnu.2_Missense_Mutation_p.I275L	p.I291L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN			3	927	+			291					Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.871A>C	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888735	0.52014	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.36340	1.26;1.26	4.99	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.22437	0.0541	L	0.28192	0.835	0.33791	D	0.625446	B;B	0.25809	0.058;0.135	B;B	0.26416	0.022;0.069	T	0.25916	-1.0118	10	0.13853	T	0.58	-30.6709	9.1704	0.37076	0.8512:0.0:0.1488:0.0	.	275;291	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	L	275;291	ENSP00000360536:I275L;ENSP00000360538:I291L	ENSP00000360536:I275L	I	+	1	0	O3FAR1	95337093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.417000	0.34770	1.015000	0.39444	0.454000	0.30748	ATC		0.582	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		C	95347103	A	C	95347103	3	2	37	1	0	0	0	0	1	0	0	0	6636	217	8	5	885	5	GPR120	10	95347103	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	5693294	95347103	40187644	39	2298											
MUC2	4583	broad.mit.edu	37	chr11	1101144	1101144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacggaggtcaaccctgccGacacctgctgcaacattacc	10	6	8	17	2	1	0	1	0	0	0	1	2	1	1	5	2	6	2	5	2	3	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:1101144G>A	ENST00000441003.2	+	41	7570	c.7543G>A	c.(7543-7545)Gac>Aac	p.D2515N		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4877					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCCTGCCGACACCTGCTG	0.622																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7531-7533)Gac>Aac		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						87	97	94					11																	1101144		2113	4224	6337	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1101144G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7543G>A	11.37:g.1101144G>A	ENSP00000415183:p.Asp2515Asn						p.D2511N	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	42	7558	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4877					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.7531G>A		.	.	.	.	.	.	.	.	.	.	G	7.156	0.584716	0.13749	.	.	ENSG00000198788	ENST00000441003	T	0.12879	2.64	3.25	1.17	0.20885	.	.	.	.	.	T	0.04227	0.0117	N	0.10685	0.025	0.22591	N	0.99896	P	0.46859	0.885	B	0.29663	0.105	T	0.37150	-0.9718	9	0.16896	T	0.51	.	7.9521	0.30021	0.2204:0.0:0.7796:0.0	.	2515	E7EUV1	.	N	2515	ENSP00000415183:D2515N	ENSP00000415183:D2515N	D	+	1	0	MUC2	1091144	0.998000	0.40836	0.261000	0.24466	0.126000	0.20510	2.670000	0.46833	0.443000	0.26582	0.479000	0.44913	GAC		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1101144	G	A	1101144	3	1	37	1	0	0	0	0	1	0	0	0	9975	1058	37	2	7697	2	MUC2	11	1101144	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		1101144	133905372	40	2299											
OR51T1	401665	broad.mit.edu	37	chr11	4903141	4903141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaccatggcaatattCaataacaccacttcgtcttc	14	10	3	14	1	2	0	1	0	1	0	4	0	2	0	3	1	3	1	3	1	6	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:4903141C>A	ENST00000322049.1	+	1	12	c.12C>A	c.(10-12)ttC>ttA	p.F4L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F31L|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAATATTCAATAACACCA	0.368																																						uc010qyp.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(91-93)ttC>ttA		Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.							152	122	132					11																	4903141		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903141C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.12C>A	11.37:g.4903141C>A	ENSP00000322679:p.Phe4Leu						p.F31L	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	93	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	4					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.93C>A		.	.	.	.	.	.	.	.	.	.	C	0.885	-0.727332	0.03158	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.35789	1.29;5.41	4.18	3.24	0.37175	.	0.559177	0.14981	N	0.287239	T	0.15912	0.0383	N	0.08118	0	0.34291	D	0.683214	B	0.02656	0.0	B	0.04013	0.001	T	0.20505	-1.0273	10	0.09084	T	0.74	.	8.103	0.30868	0.0:0.8072:0.0:0.1928	.	4	Q8NGJ9	O51T1_HUMAN	L	31;4	ENSP00000369738:F31L;ENSP00000322679:F4L	ENSP00000322679:F4L	F	+	3	2	OR51T1	4859717	0.833000	0.29383	0.970000	0.41538	0.120000	0.20174	1.570000	0.36439	1.082000	0.41137	0.484000	0.47621	TTC		0.368	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		A	4903141	C	A	4903141	3	1	37	1	0	0	0	0	1	0	0	0	11106	825	29	5	95	5	OR51T1	11	4903141	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	3801997	4903141	130103375	41	2300											
OR10A6	390093	broad.mit.edu	37	chr11	7949484	7949484	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagatgtgaggtgagcGgcacaggtggaaaaggcctt	11	7	16	7	1	1	3	1	2	0	1	1	4	1	4	1	5	1	1	1	5	2	1	rs374708960	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:7949484G>A	ENST00000309838.2	-	1	725	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGTGAGCGGCACAGGTGG	0.453													G|||	2	0.000399361	0	0	5008	,	,		18346	0		0	False		,,,				2504	0.002					uc010rbh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(724-726)gcC>gcT		Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.		G		0,4402		0,0,2201	123	110	115		726	1.5	1	11		115	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR10A6	NM_001004461.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		242/315	7949484	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949484G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.726C>T	11.37:g.7949484G>A							p.A242A	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	726	-			242					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.726C>T	CCDS31420.1																																																																																				0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		A	7949484	G	A	7949484	2	1	37	1	0	0	0	0	0	0	0	1	10894	1103	39	2		2	OR10A6	11	7949484	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	3046343	7949484	127057032	42	2301											
MADD	8567	broad.mit.edu	37	chr11	47345856	47345856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggacagcatggagcGcgctgccgcccgacagcaaa	11	4	14	12	4	0	1	0	1	0	0	0	4	0	3	2	2	4	3	2	2	2	0	rs568759986		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:47345856G>A	ENST00000311027.5	+	32	4748	c.4583G>A	c.(4582-4584)cGc>cAc	p.R1528H	MADD_ENST00000405573.2_Missense_Mutation_p.R338H|MADD_ENST00000402192.2_Missense_Mutation_p.R1468H|MADD_ENST00000349238.3_Missense_Mutation_p.R1489H|MADD_ENST00000342922.4_Missense_Mutation_p.R1469H|MADD_ENST00000407859.3_Missense_Mutation_p.R1446H|MADD_ENST00000395336.3_Missense_Mutation_p.R1528H|MADD_ENST00000395344.3_Missense_Mutation_p.R1422H|MADD_ENST00000402799.1_Missense_Mutation_p.R1426H|MADD_ENST00000406482.1_Missense_Mutation_p.R1426H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCATGGAGCGCGCTGCCGCC	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		18051	0		0	False		,,,				2504	0					uc001ner.1																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(4582-4584)cGc>cAc		Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.							65	66	65					11																	47345856		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345856G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4583G>A	11.37:g.47345856G>A	ENSP00000310933:p.Arg1528His					MADD_uc001neq.2_Missense_Mutation_p.R1469H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nez.2_Missense_Mutation_p.R1425H|MADD_uc001new.2_Missense_Mutation_p.R1468H|MADD_uc001nex.2_Missense_Mutation_p.R1528H|MADD_uc009ylo.3_Missense_Mutation_p.R442H	p.R1528H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	31	4774	+			1528						Missense_Mutation	SNP	ENST00000311027.5	37	c.4583G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588621	0.96590	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.55052	3.12;3.0;3.02;3.11;3.09;3.0;3.0;3.09;3.13;0.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.97;0.991;0.991;0.999;0.998;0.998;0.996;0.998;0.996;0.996;0.998	T	0.70865	-0.4756	10	0.87932	D	0	-9.3092	19.8881	0.96917	0.0:0.0:1.0:0.0	.	338;1422;1422;1528;1426;1426;1426;1489;1446;1528;1469	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	1469;1426;1426;1426;1489;1528;1446;1422;1528;1468;338	ENSP00000343902:R1469H;ENSP00000385585:R1426H;ENSP00000384435:R1426H;ENSP00000304505:R1489H;ENSP00000310933:R1528H;ENSP00000384204:R1446H;ENSP00000378753:R1422H;ENSP00000378745:R1528H;ENSP00000384287:R1468H;ENSP00000384483:R338H	ENSP00000310933:R1528H	R	+	2	0	MADD	47302432	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.622000	0.83099	2.708000	0.92522	0.555000	0.69702	CGC		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47345856	G	A	47345856	3	1	37	1	0	0	0	0	1	0	0	0	9152	1087	38	1	4705	1	MADD	11	47345856	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	39396372	47345856	87660660	43	2302											
MS4A7	58475	broad.mit.edu	37	chr11	60150731	60150731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaagattacctgcagaaCgggctgccaacagaaaccac	16	4	9	12	2	0	3	0	0	0	3	0	4	0	3	3	1	7	2	3	1	6	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:60150731C>T	ENST00000300184.3	+	2	313	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_ENST00000534016.1_Silent_p.N39N|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Silent_p.N39N|MS4A7_ENST00000530234.2_Silent_p.N39N	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	39						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438																																						uc001npe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(115-117)aaC>aaT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.							90	76	81					11																	60150731		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60150731C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.117C>T	11.37:g.60150731C>T						MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			1	262	+			39					A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.117C>T	CCDS7985.1																																																																																				0.438	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			T	60150731	C	T	60150731	2	4	37	1	0	0	0	0	0	0	0	1	9866	535	19	1		1	MS4A7	11	60150731	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	12804875	60150731	74855785	44	2303											
NADSYN1	55191	broad.mit.edu	37	chr11	71191823	71191823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagggcgagcccctaccCcagagtgaaggtggactttg	9	6	14	12	1	0	2	0	1	0	1	0	4	0	3	4	3	3	1	4	3	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:71191823C>T	ENST00000319023.2	+	11	1084	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NADSYN1_ENST00000539574.1_Missense_Mutation_p.P39L|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_5'UTR	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	299	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGCCCCTACCCCAGAGTGAAG	0.587																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(895-897)cCc>cTc		Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						77	68	71					11																	71191823		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71191823C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.896C>T	11.37:g.71191823C>T	ENSP00000326424:p.Pro299Leu					NADSYN1_uc001oqo.3_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.3_5'UTR	p.P299L	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			10	1022	+			299			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.896C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656268	0.47467	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	T;T	0.24151	2.42;1.87	5.18	4.23	0.50019	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.348813	0.30219	N	0.010124	T	0.35770	0.0943	M	0.82517	2.595	0.53688	D	0.999975	P;B	0.48834	0.916;0.444	P;B	0.45660	0.489;0.266	T	0.23904	-1.0175	10	0.38643	T	0.18	-34.4793	10.9884	0.47534	0.3235:0.6765:0.0:0.0	.	39;299	B3KUU4;Q6IA69	.;NADE_HUMAN	L	299;39	ENSP00000326424:P299L;ENSP00000443718:P39L	ENSP00000326424:P299L	P	+	2	0	NADSYN1	70869471	1.000000	0.71417	0.995000	0.50966	0.354000	0.29330	2.338000	0.43957	2.413000	0.81919	0.561000	0.74099	CCC		0.587	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		T	71191823	C	T	71191823	3	4	37	1	0	0	0	0	1	0	0	0	10138	623	22	3	938	3	NADSYN1	11	71191823	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	11041092	71191823	63814693	45	2304											
SPATA19	219938	broad.mit.edu	37	chr11	133714446	133714446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctggccatgggtgggaggGgagtcagtggacatcttctc	6	10	16	9	0	3	0	1	0	2	0	5	3	4	3	2	6	0	0	2	6	0	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:133714446G>A	ENST00000299140.3	-	3	279	c.225C>T	c.(223-225)tcC>tcT	p.S75S	SPATA19_ENST00000532889.1_Silent_p.S75S	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	75					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGGTGGGAGGGGAGTCAGTGG	0.552																																						uc001qgv.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(223-225)tcC>tcT		Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.							146	136	140					11																	133714446		2201	4297	6498	SO:0001819	synonymous_variant	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714446G>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"spergen 1", "cancer/testis antigen 132"	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.225C>T	11.37:g.133714446G>A							p.S75S	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	2	276	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	75					Q8N7A9	Silent	SNP	ENST00000299140.3	37	c.225C>T	CCDS8493.1																																																																																				0.552	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		A	133714446	G	A	133714446	2	1	37	1	0	0	0	0	0	0	0	1	15003	1219	43	3		3	SPATA19	11	133714446	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	62522623	133714446	1292070	46	2305											
C12orf50	160419	broad.mit.edu	37	chr12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaaggtgcattcaacGcgacagtcctgacagcatct	10	8	12	11	3	2	1	1	1	1	0	3	3	3	2	1	2	4	2	1	2	2	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr12:88379716G>A	ENST00000298699.2	-	11	1217	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478																																						uc001tam.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(1036-1038)gCg>gTg		Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.							215	204	208					12																	88379716		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88379716G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1037C>T	12.37:g.88379716G>A	ENSP00000298699:p.Ala346Val					C12orf50_uc001tan.3_Missense_Mutation_p.A361V	p.A346V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			10	1205	-			346					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.1037C>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272595	0.23221	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.30448	1.53;1.53	5.91	5.01	0.66863	.	0.719361	0.12995	N	0.422145	T	0.21841	0.0526	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.31680	0.228;0.335	B;B	0.22386	0.039;0.038	T	0.12142	-1.0559	10	0.49607	T	0.09	.	13.5603	0.61784	0.0:0.0:0.8439:0.1561	.	361;346	G3V208;Q8NA57	.;CL050_HUMAN	V	346;307;361	ENSP00000298699:A346V;ENSP00000448344:A307V	ENSP00000298699:A346V	A	-	2	0	C12orf50	86903847	0.631000	0.27164	0.388000	0.26195	0.048000	0.14542	3.890000	0.56220	1.466000	0.48025	0.650000	0.86243	GCG		0.478	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		A	88379716	G	A	88379716	3	1	37	1	0	0	0	0	1	0	0	0	1695	1087	38	1	219	1	C12orf50	12	88379716	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		88379716	45472179	47	2306											
TPTE2	93492	broad.mit.edu	37	chr13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataataagtcgtagaagtcGaactaaatgtgtccatctaa	17	11	7	6	2	1	1	0	0	1	1	4	2	2	1	1	0	1	1	1	0	9	5	rs538397448		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0	0	5008	,	,		18530	0.001		0	False		,,,				2504	0					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(529-531)Cga>Tga		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							35	34	34					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		A	20039688	G	A	20039688	4	1	37	1	0	0	0	0	0	1	0	0	16428	1066	37	2	1091	2	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		20039688	95130190	48	2307											
ZC3H13	23091	broad.mit.edu	37	chr13	46544544	46544544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtccggagaatgttcaCgccggcgcttcggggactgt	6	9	14	12	5	1	1	1	0	0	1	3	3	2	2	2	4	0	2	2	4	1	2	rs144621814		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:46544544C>T	ENST00000242848.4	-	13	2873	c.2525G>A	c.(2524-2526)cGt>cAt	p.R842H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R842H|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	842	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGAATGTTCACGCCGGCGCTT	0.438																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2524-2526)cGt>cAt		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.		C	HIS/ARG	0,4406		0,0,2203	145	157	153		2525	5.9	1	13	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZC3H13	NM_015070.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	842/1565	46544544	2,13004	2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46544544C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2525G>A	13.37:g.46544544C>T	ENSP00000242848:p.Arg842His					ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	p.R842H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2531	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	842			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2525G>A		.	.	.	.	.	.	.	.	.	.	C	12.85	2.062614	0.36373	0.0	2.33E-4	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35605	2.32;1.3	5.93	5.93	0.95920	.	0.093212	0.47852	D	0.000211	T	0.56171	0.1967	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.57548	0.67;0.823	T	0.51140	-0.8743	10	0.45353	T	0.12	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	842;842	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	842	ENSP00000242848:R842H;ENSP00000282007:R842H	ENSP00000242848:R842H	R	-	2	0	ZC3H13	45442545	1.000000	0.71417	0.953000	0.39169	0.763000	0.43281	2.340000	0.43974	2.826000	0.97356	0.655000	0.94253	CGT		0.438	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		T	46544544	C	T	46544544	3	4	37	1	0	0	0	0	1	0	0	0	17562	536	19	1	2189	1	ZC3H13	13	46544544	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	26504856	46544544	68625334	49	2308											
RB1	5925	broad.mit.edu	37	chr13	49033823	49033823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttttcttattcccacaGtgtatcggctagcctatctc	8	17	5	11	1	2	0	0	0	2	0	5	0	3	0	2	1	1	2	2	1	5	8			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:49033823G>T	ENST00000267163.4	+	20	2098		c.e20-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(16)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TATTCCCACAGTGTATCGGCT	0.363		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		31	Unknown(16)|Whole gene deletion(15)	p.?(16)|p.0?(15)	bone(10)|haematopoietic_and_lymphoid_tissue(5)|breast(4)|eye(2)|cervix(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS030557	RB1	S		c.e20-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						69	74	72					13																	49033823		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033823G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1961-1G>T	13.37:g.49033823G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.V654_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2127	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	654		V -> E (in RB).	Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1961_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335455	0.81801	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0412	0.97590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47931824	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.476000	0.97823	2.746000	0.94184	0.650000	0.86243	.		0.363	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	T	49033823	G	T	49033823	5	4	37	1	0	0	0	0	0	0	1	0	13098	1043	36	5	2038	5	RB1	13	49033823	Splice_Site	SNP	G	TCGA-06-0184-01A-01D-1491-08	2489279	49033823	66136055	50	2309											
SYNE2	23224	broad.mit.edu	37	chr14	64496750	64496750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgtggatcaaatagcGgttgaggaaaaattgcagaa	16	8	12	5	1	1	2	1	1	0	1	1	4	1	4	1	3	3	2	1	3	6	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:64496750G>A	ENST00000344113.4	+	44	7064	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	SYNE2_ENST00000554584.1_Silent_p.A2284A|SYNE2_ENST00000358025.3_Silent_p.A2284A|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2284			A -> V (in dbSNP:rs4027402). {ECO:0000269|PubMed:12118075}.		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCAAATAGCGGTTGAGGAAA	0.363																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6850-6852)gcG>gcA		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							67	64	65					14																	64496750		1840	4083	5923	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496750G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6852G>A	14.37:g.64496750G>A						SYNE2_uc001xgm.3_Silent_p.A2284A|SYNE2_uc021ruh.1_Silent_p.A2284A	p.A2284A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	43	7082	+			2284		A -> V (in dbSNP:rs4027402).			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6852G>A	CCDS41963.1																																																																																				0.363	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64496750	G	A	64496750	2	1	37	1	0	0	0	0	0	0	0	1	15443	1103	39	2		2	SYNE2	14	64496750	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08		64496750	42852790	51	2310											
PROX2	283571	broad.mit.edu	37	chr14	75329430	75329430	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaggaggggtgcctctGggaagatgagtcctggggag	7	8	19	7	0	2	3	0	2	2	1	3	6	3	6	2	6	1	0	2	6	1	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:75329430G>A	ENST00000445876.1	-	1	1107	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	PROX2_ENST00000556489.2_Nonsense_Mutation_p.Q370*|PROX2_ENST00000556084.2_Intron			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	370					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGTGCCTCTGGGAAGATGAG	0.542																																						uc021rwo.1																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(1108-1110)Cag>Tag		Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.							50	55	53					14																	75329430		1984	4165	6149	SO:0001587	stop_gained	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329430G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1108C>T	14.37:g.75329430G>A	ENSP00000405932:p.Gln370*					PROX2_uc001xqp.2_Nonsense_Mutation_p.Q370*|PROX2_uc001xqq.2_Intron	p.Q370*	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	0	1108	-			370					C9J5W1|Q8N9Q3	Nonsense_Mutation	SNP	ENST00000445876.1	37	c.1108C>T	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941631	0.73557	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	.	.	.	5.37	5.37	0.77165	.	1.001640	0.08053	N	0.996978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.845	13.0828	0.59123	0.0:0.211:0.789:0.0	.	.	.	.	X	370	.	ENSP00000374315:Q370X	Q	-	1	0	PROX2	74399183	0.225000	0.23685	0.020000	0.16555	0.246000	0.25737	2.995000	0.49441	2.519000	0.84933	0.555000	0.69702	CAG		0.542	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	75329430	G	A	75329430	4	1	37	1	0	0	0	0	0	1	0	0	12561	1357	47	3	686	3	PROX2	14	75329430	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	10832680	75329430	32020110	52	2311											
KCNK10	54207	broad.mit.edu	37	chr14	88729810	88729810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggaaatggacaggcgCggagttggagtcggagccgg	9	4	21	7	5	0	0	0	0	0	0	1	6	0	6	1	8	1	1	1	8	1	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:88729810C>T	ENST00000340700.5	-	2	574	c.123G>A	c.(121-123)ccG>ccA	p.P41P	KCNK10_ENST00000319231.5_Silent_p.P46P|KCNK10_ENST00000312350.5_Silent_p.P46P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	41					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAGGCGCGGAGTTGGAG	0.652																																						uc001xwm.3																			0		p.S46F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(136-138)ccG>ccA		Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.							65	70	68					14																	88729810		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729810C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.123G>A	14.37:g.88729810C>T						KCNK10_uc001xwn.3_Silent_p.P46P|KCNK10_uc001xwo.3_Silent_p.P41P	p.P46P	NM_138318	NP_612191	P57789	KCNKA_HUMAN			1	260	-			41					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.138G>A	CCDS9880.1																																																																																				0.652	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88729810	C	T	88729810	2	4	37	1	0	0	0	0	0	0	0	1	8059	755	27	1		1	KCNK10	14	88729810	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	13400380	88729810	18619730	53	2312											
ISLR	3671	broad.mit.edu	37	chr15	74467595	74467595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaagatggacagcaaCgagctgaccttcatcccccg	10	8	9	14	2	2	2	2	1	0	1	3	4	3	3	3	1	4	3	3	1	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr15:74467595C>T	ENST00000249842.3	+	2	753	c.396C>T	c.(394-396)aaC>aaT	p.N132N	ISLR_ENST00000395118.1_Silent_p.N132N|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	132					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGACAGCAACGAGCTGACCT	0.592																																						uc002axg.1																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(394-396)aaC>aaT		Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.							103	98	100					15																	74467595		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467595C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.396C>T	15.37:g.74467595C>T						ISLR_uc002axh.1_Silent_p.N132N|ISLR_uc021sqf.1_Silent_p.N132N	p.N132N	NM_005545	NP_958934	O14498	ISLR_HUMAN			1	678	+			132						Silent	SNP	ENST00000249842.3	37	c.396C>T	CCDS10260.1																																																																																				0.592	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		T	74467595	C	T	74467595	2	4	37	1	0	0	0	0	0	0	0	1	7858	535	19	1		1	ISLR	15	74467595	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		74467595	28063797	54	2313											
CHP2	63928	broad.mit.edu	37	chr16	23767768	23767768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaggcatgagatgctgCaggttggcagaaagcgagag	11	7	15	8	1	1	3	0	1	1	3	2	5	1	3	1	3	3	5	1	3	1	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:23767768C>T	ENST00000300113.2	+	5	835	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	138	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGAGATGCTGCAGGTTGGCAG	0.537																																						uc002dmb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(412-414)Cag>Tag		Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.							88	70	76					16																	23767768		2197	4300	6497	SO:0001587	stop_gained	63928						calcium ion binding	g.chr16:23767768C>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.412C>T	16.37:g.23767768C>T	ENSP00000300113:p.Gln138*						p.Q138*	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	4	835	+			138			EF-hand 3.		A8K2I8	Nonsense_Mutation	SNP	ENST00000300113.2	37	c.412C>T	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	36	5.706326	0.96821	.	.	ENSG00000166869	ENST00000300113	.	.	.	3.67	3.67	0.42095	.	0.076227	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-27.8216	13.6905	0.62542	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000300113:Q138X	Q	+	1	0	AC130454.2	23675269	0.996000	0.38824	0.973000	0.42090	0.270000	0.26580	3.493000	0.53266	2.333000	0.79357	0.591000	0.81541	CAG		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		T	23767768	C	T	23767768	4	4	37	1	0	0	0	0	0	1	0	0	3367	711	25	3	430	3	CHP2	16	23767768	Nonsense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		23767768	66586985	55	2314											
CES1	1066	broad.mit.edu	37	chr16	55855414	55855414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaccccagttcccccGgctgtgttcatcccctgtgc	4	10	10	17	1	1	1	1	1	0	0	3	1	3	1	6	2	1	3	6	2	0	2	rs200227274		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:55855414G>A	ENST00000361503.4	-	5	686	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CES1_ENST00000422046.2_Missense_Mutation_p.R186W|CES1_ENST00000360526.3_Missense_Mutation_p.R187W|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	186				R -> G (in Ref. 18; CAA37147). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTTCCCCCGGCTGTGTTCA	0.602																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.3																			0											c.(556-558)Cgg>Tgg		Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						33	39	37					16																	55855414		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55855414G>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.556C>T	16.37:g.55855414G>A	ENSP00000355193:p.Arg186Trp					CES1_uc002eil.3_Missense_Mutation_p.R187W|CES1_uc002ein.3_Missense_Mutation_p.R186W	p.R186W	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	664	-			186	R -> G (in Ref. 18; CAA37147).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.556C>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.474792	0.26511	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.10382	3.01;3.01;2.88	4.18	2.14	0.27477	Carboxylesterase, type B (1);	1.484950	0.03816	N	0.266719	T	0.19886	0.0478	M	0.81614	2.55	0.09310	N	0.999996	P;P;P	0.46706	0.883;0.883;0.858	B;B;B	0.42495	0.337;0.389;0.228	T	0.28459	-1.0043	10	0.66056	D	0.02	.	7.1201	0.25440	0.0974:0.0:0.735:0.1676	.	186;186;187	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	W	187;186;186;51	ENSP00000353720:R187W;ENSP00000355193:R186W;ENSP00000390492:R186W	ENSP00000353720:R187W	R	-	1	2	CES1	54412915	0.012000	0.17670	0.468000	0.27192	0.373000	0.29922	1.775000	0.38584	0.761000	0.33130	-0.496000	0.04628	CGG		0.602	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55855414	G	A	55855414	3	1	37	1	0	0	0	0	1	0	0	0	3269	1115	39	2	1187	2	CES1	16	55855414	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	32087646	55855414	34499339	56	2315											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2	rs587782144		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM994513	TP53	M		c.(472-474)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49	51	50					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578457	C	T	7578457	3	4	37	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		7578457	73616753	57	2316											
NF1	4763	broad.mit.edu	37	chr17	29665808	29665808	+	Frame_Shift_Del	DEL	G	G	-																															atagcactaaccaaattacaGccacttcttaataaggtaat																										TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:29665808delG	ENST00000358273.4	+	46	7289	c.6906delG	c.(6904-6906)cagfs	p.Q2302fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.Q2281fs|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Frame_Shift_Del_p.Q95fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2302					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q2302fs*17(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAATTACAGCCACTTCTTA	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.Q2302fs*17(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6904-6906)cagfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							72	72	72					17																	29665808		2203	4294	6497	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665808delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6906delG	17.37:g.29665808delG	ENSP00000351015:p.Gln2302fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.Q2281fs|NF1_uc010cso.3_Frame_Shift_Del_p.Q490fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	p.Q2302fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	45	7289	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2302					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6906delG	CCDS42292.1																																																																																				0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29665808	G	-	29665808	7	5	37	1	0	1	0	1	0	0	0	0	10356	962	34	0	7149	0	NF1	17	29665808	Frame_Shift_Del	DEL	G	TCGA-06-0184-01A-01D-1491-08	22087351	29665808	51529402	58	2317											
SLC25A39	51629	broad.mit.edu	37	chr17	42400868	42400868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagagaggtaaccacagcCccggtgcctgaggccaccat	12	4	12	13	1	0	3	0	1	0	2	0	4	0	3	6	3	3	1	6	3	2	1	rs199722360	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:42400868C>T	ENST00000377095.5	-	2	182	c.63G>A	c.(61-63)ggG>ggA	p.G21G	SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Silent_p.G21G|SLC25A39_ENST00000537904.2_Silent_p.G21G|SLC25A39_ENST00000225308.8_Silent_p.G21G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	21					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TAACCACAGCCCCGGTGCCTG	0.617													C|||	2	0.000399361	8e-04	0	5008	,	,		7424	0		0.001	False		,,,				2504	0					uc002ign.2																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(61-63)ggG>ggA		Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42400868C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.63G>A	17.37:g.42400868C>T						SLC25A39_uc002igm.2_Silent_p.G21G|SLC25A39_uc010wiw.1_Silent_p.G21G|SLC25A39_uc010wix.1_Silent_p.G21G|SLC25A39_uc010wiy.1_Silent_p.G21G	p.G21G	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	217	-		Prostate(33;0.0233)	21					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.63G>A	CCDS45700.1																																																																																				0.617	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		T	42400868	C	T	42400868	2	4	37	1	0	0	0	0	0	0	0	1	14503	610	22	3		3	SLC25A39	17	42400868	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	12735060	42400868	38794342	59	2318											
UNC13D	201294	broad.mit.edu	37	chr17	73827417	73827417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtgtgtgggtccagagCagggtcaggaggctggggcg	6	7	22	6	1	1	2	1	1	0	1	2	3	2	3	1	6	1	2	1	6	0	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:73827417C>T	ENST00000207549.4	-	26	2839	c.2460G>A	c.(2458-2460)ctG>ctA	p.L820L	UNC13D_ENST00000412096.2_Silent_p.L820L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	820	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTCCAGAGCAGGGTCAGGA	0.667									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2458-2460)ctG>ctA		Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.							32	37	35					17																	73827417		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73827417C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2460G>A	17.37:g.73827417C>T						UNC13D_uc010wsk.1_Silent_p.L820L|UNC13D_uc002jpq.1_3'UTR	p.L820L	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	2840	-			820			MHD2.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.2460G>A	CCDS11730.1																																																																																				0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73827417	C	T	73827417	2	4	37	1	0	0	0	0	0	0	0	1	16984	697	25	3		3	UNC13D	17	73827417	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	31426549	73827417	7367793	60	2319											
SEMA6B	10501	broad.mit.edu	37	chr19	4555533	4555533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggtcgtacgggcagcggGccataccgctgatgttgtct	5	10	16	10	4	1	1	0	1	1	0	2	1	1	1	2	4	3	4	2	4	2	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:4555533G>C	ENST00000586582.1	-	7	825	c.515C>G	c.(514-516)gCc>gGc	p.A172G	SEMA6B_ENST00000586965.1_Missense_Mutation_p.A172G|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A172G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	172	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCAGCGGGCCATACCGCT	0.622																																						uc010dud.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(514-516)gCc>gGc		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.							108	97	101					19																	4555533		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4555533G>C	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.515C>G	19.37:g.4555533G>C	ENSP00000467290:p.Ala172Gly					SEMA6B_uc010xih.1_Missense_Mutation_p.A172G	p.A172G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	6	777	-		Hepatocellular(1079;0.137)	172			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.515C>G	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604031	0.66445	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.09538	2.97	3.33	3.33	0.38152	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.31065	0.9	0.44711	D	0.997704	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.00896	-1.1523	10	0.87932	D	0	.	8.9582	0.35832	0.1146:0.0:0.8854:0.0	.	172;172	B4DT36;Q9H3T3	.;SEM6B_HUMAN	G	172	ENSP00000301293:A172G	ENSP00000301292:A172G	A	-	2	0	SEMA6B	4506533	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	7.489000	0.81451	2.164000	0.68074	0.305000	0.20034	GCC		0.622	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		C	4555533	G	C	4555533	3	2	37	1	0	0	0	0	1	0	0	0	14040	1203	42	5	2195	5	SEMA6B	19	4555533	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		4555533	54573450	61	2320											
ILF3	3609	broad.mit.edu	37	chr19	10799315	10799315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacacgggggctacggcGgaggttctgggggcggctcc	4	6	20	11	4	2	0	1	0	1	0	3	1	3	1	1	9	1	3	1	9	1	2	rs371015547		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:10799315G>A	ENST00000590261.1	+	18	2512	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	ILF3_ENST00000318511.3_Missense_Mutation_p.G838R|ILF3_ENST00000449870.1_Missense_Mutation_p.G842R|ILF3_ENST00000588657.1_Missense_Mutation_p.G842R|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	838	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCTACGGCGGAGGTTCTGG	0.667																																						uc002mpn.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2512-2514)Gga>Aga		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.		G	ARG/GLY,ARG/GLY	0,4404		0,0,2202	51	63	59		2512,2524	3.2	0.9	19		59	1,8597		0,1,4298	no	missense,missense	ILF3	NM_012218.3,NM_017620.2	125,125	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	838/895,842/899	10799315	1,13001	2202	4299	6501	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799315G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2512G>A	19.37:g.10799315G>A	ENSP00000468156:p.Gly838Arg					ILF3_uc002mpo.3_Missense_Mutation_p.G842R|ILF3_uc002mpq.3_Silent_p.A140A	p.G838R	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2829	+			838			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2512G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600009	0.46318	0.0	1.16E-4	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14391	2.52;2.51	5.32	3.17	0.36434	.	0.614372	0.15644	N	0.251747	T	0.07413	0.0187	N	0.14661	0.345	0.80722	D	1	P;P	0.38504	0.634;0.501	B;B	0.37144	0.242;0.122	T	0.39440	-0.9614	10	0.18710	T	0.47	.	8.3986	0.32572	0.1783:0.0:0.8217:0.0	.	842;838	G5E9M5;Q12906	.;ILF3_HUMAN	R	842;838	ENSP00000404121:G842R;ENSP00000315205:G838R	ENSP00000315205:G838R	G	+	1	0	ILF3	10660315	1.000000	0.71417	0.946000	0.38457	0.986000	0.74619	2.479000	0.45197	0.802000	0.34089	0.655000	0.94253	GGA		0.667	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			A	10799315	G	A	10799315	3	1	37	1	0	0	0	0	1	0	0	0	7712	1117	39	2	2666	2	ILF3	19	10799315	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	6243782	10799315	48329668	62	2321											
ANGPT4	51378	broad.mit.edu	37	chr20	858921	858921	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttctggtgagctggTgcaccacttcattgcccagc	5	11	10	15	0	2	1	1	1	1	0	2	1	2	1	3	2	5	2	3	2	0	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:858921T>A	ENST00000381922.3	-	7	1205	c.1103A>T	c.(1102-1104)cAc>cTc	p.H368L	ANGPT4_ENST00000546022.1_Missense_Mutation_p.H368L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGTGAGCTGGTGCACCACTTC	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1102-1104)cAc>cTc		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							51	43	46					20																	858921		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:858921T>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1103A>T	20.37:g.858921T>A	ENSP00000371347:p.His368Leu					ANGPT4_uc010zpn.2_Missense_Mutation_p.H362L	p.H368L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			6	1206	-			368			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1103A>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580624	0.86645	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35973	1.78;1.28	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.122273	0.53938	D	0.000048	T	0.65460	0.2693	H	0.96662	3.86	0.58432	D	0.999999	P;P	0.50443	0.935;0.935	P;P	0.52159	0.691;0.691	T	0.78206	-0.2294	10	0.72032	D	0.01	.	14.5891	0.68351	0.0:0.0:0.0:1.0	.	368;368	B4E3J9;Q9Y264	.;ANGP4_HUMAN	L	368	ENSP00000371347:H368L;ENSP00000439605:H368L	ENSP00000371347:H368L	H	-	2	0	ANGPT4	806921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.990000	0.70595	2.308000	0.77769	0.533000	0.62120	CAC		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	858921	T	A	858921	3	1	37	1	0	0	0	0	1	0	0	0	612	1696	59	5	420	5	ANGPT4	20	858921	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		858921	62166599	63	2322											
CHGB	1114	broad.mit.edu	37	chr20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctctgaggtggacaaaCgacgcacgaggcccagacac	12	3	11	15	3	1	2	0	1	1	1	1	5	1	3	3	3	1	1	3	3	1	0	rs553869356		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:5903619C>T	ENST00000378961.4	+	4	1033	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	277						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R277*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607													C|||	1	0.000199681	0	0	5008	,	,		18067	0		0	False		,,,				2504	0.001					uc002wmg.3																			1	Substitution - Nonsense(1)	p.R277*(2)	lung(1)	breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(829-831)Cga>Tga		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							38	40	40					20																	5903619		2202	4300	6502	SO:0001587	stop_gained	1114					extracellular region	hormone activity	g.chr20:5903619C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.829C>T	20.37:g.5903619C>T	ENSP00000368244:p.Arg277*					CHGB_uc010zqz.2_5'UTR	p.R277*	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	1135	+			277					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	ENST00000378961.4	37	c.829C>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334779	0.95758	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	.	.	.	5.45	5.45	0.79879	.	0.273852	0.28796	N	0.014108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0173	12.9475	0.58382	0.2688:0.7312:0.0:0.0	.	.	.	.	X	277;257	.	ENSP00000368244:R277X	R	+	1	2	CHGB	5851619	1.000000	0.71417	0.958000	0.39756	0.601000	0.36947	1.152000	0.31663	2.547000	0.85894	0.563000	0.77884	CGA		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903619	C	T	5903619	4	4	37	1	0	0	0	0	0	1	0	0	3339	528	19	1	843	1	CHGB	20	5903619	Nonsense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	5044698	5903619	57121901	64	2323											
RNF160	26046	broad.mit.edu	37	chr21	30354691	30354691	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagatgatcctgcagcacCtacaaaggggggaaatacca	16	6	10	9	0	0	2	0	1	0	1	1	3	1	3	3	3	4	2	3	3	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr21:30354691C>T	ENST00000361371.5	-	5	656		c.e5-1		LTN1_ENST00000389194.2_Splice_Site|LTN1_ENST00000389195.2_Splice_Site			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCTGCAGCACCTACAAAGGGG	0.378																																						uc002ymr.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.e5-1		Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.							71	72	71					21																	30354691		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30354691C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.577-1G>A	21.37:g.30354691C>T						LTN1_uc010gll.1_Splice_Site	p.V239_splice	NM_015565	NP_056380	O94822	LTN1_HUMAN			5	728	-			193					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.715_splice		.	.	.	.	.	.	.	.	.	.	C	23.0	4.366773	0.82463	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTN1	29276562	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.770000	0.74990	2.733000	0.93635	0.655000	0.94253	.		0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Intron	T	30354691	C	T	30354691	5	4	37	1	0	0	0	0	0	0	1	0	13455	695	24	3	4828	3	RNF160	21	30354691	Splice_Site	SNP	C	TCGA-06-0184-01A-01D-1491-08		30354691	17775204	65	2324											
EIF3L	51386	broad.mit.edu	37	chr22	38274115	38274115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaacctcgtgtggaccagCggtatctcagccctggatgg	9	8	13	11	2	1	1	1	0	1	1	3	3	1	3	3	4	3	1	3	4	3	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr22:38274115C>T	ENST00000412331.2	+	11	2094	c.1512C>T	c.(1510-1512)agC>agT	p.S504S	EIF3L_ENST00000381683.6_Silent_p.S456S|EIF3L_ENST00000406934.1_Silent_p.S406S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGGACCAGCGGTATCTCAG	0.522																																						uc003auf.3																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1510-1512)agC>agT		Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.							66	63	64					22																	38274115		2184	4249	6433	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38274115C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1512C>T	22.37:g.38274115C>T						EIF3L_uc011ann.2_Silent_p.S456S|EIF3L_uc003aug.3_Silent_p.S396S	p.S504S	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			10	1590	+			504						Silent	SNP	ENST00000412331.2	37	c.1512C>T	CCDS13960.1																																																																																				0.522	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		T	38274115	C	T	38274115	2	4	37	1	0	0	0	0	0	0	0	1	5022	767	27	1		1	EIF3L	22	38274115	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		38274115	13030451	66	2325											
BTK	695	broad.mit.edu	37	chrX	100611084	100611084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccaggtattccatggCttcacagacatccttgcaca	10	11	7	13	0	1	2	1	1	0	1	4	2	4	2	3	2	1	3	3	2	1	4			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chrX:100611084C>T	ENST00000308731.7	-	15	1685	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> D (in XLA).		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.A508T(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATTCCATGGCTTCACAGACA	0.547									Agammaglobulinemia, X-linked																													uc010nno.2																			1	Substitution - Missense(1)	p.A508T(1)	central_nervous_system(1)	breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1624-1626)Gcc>Acc		Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.							153	126	135					X																	100611084		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611084C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1522G>A	X.37:g.100611084C>T	ENSP00000308176:p.Ala508Thr					BTK_uc004ehf.2_Missense_Mutation_p.A8T|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.A78T|BTK_uc004ehg.2_Missense_Mutation_p.A508T|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Missense_Mutation_p.A508T	p.A542T	NM_000061	NP_000052	Q06187	BTK_HUMAN			14	1857	-			508		L -> P (in XLA; growth hormone deficiency).	Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1624G>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036006	0.93630	.	.	ENSG00000010671	ENST00000372855;ENST00000443591;ENST00000308731	D	0.92699	-3.09	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051219	0.85682	D	0.000000	D	0.97046	0.9035	M	0.93016	3.37	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.996;0.995	D;D;D;P	0.73380	0.937;0.98;0.949;0.881	D	0.97985	1.0351	10	0.87932	D	0	.	18.0461	0.89332	0.0:1.0:0.0:0.0	.	179;179;508;508	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	T	57;179;508	ENSP00000308176:A508T	ENSP00000308176:A508T	A	-	1	0	BTK	100497740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.297000	0.77311	0.600000	0.82982	GCC		0.547	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		T	100611084	C	T	100611084	3	4	37	1	0	0	0	0	1	0	0	0	1557	797	28	3	477	3	BTK	23	100611084	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		100611084	54659476	67	2326											
ACAP3	116983	broad.mit.edu	37	chr1	1229200	1229201	+	Splice_Site	DEL	CA	CA	-																															cccgagggcccggccgcgctCacagtgtcacgatgtcagcg																										TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:1229200_1229201delCA	ENST00000354700.5	-	23	2563		c.e23+1		ACAP3_ENST00000353662.3_Splice_Site|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGCCGCGCTCACAGTGTCACG	0.752																																						uc001aeb.2																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.e23+1		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.																																				SO:0001630	splice_region_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1229200_1229201delCA	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2360+1TG>-	1.37:g.1229202_1229203delCA						ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	p.L787_splice	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			23	2434	-			787					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Splice_Site	DEL	ENST00000354700.5	37	c.2360_splice	CCDS19.2																																																																																				0.752	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	Intron	-	1229201	CA	-	1229200	8	5	38	1	0	1	0	1	0	0	1	0	120	841	29	0		0	ACAP3	1	1229200	Splice_Site	DEL	CA	TCGA-06-0185-01A-01W-0254-08		1229200	248021421	1	2327											
TMCO4	255104	broad.mit.edu	37	chr1	20027271	20027271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacagacctgcagtagcCgttgatgatcctcccggaca	9	9	11	12	2	0	3	0	2	0	1	2	5	2	5	4	2	2	3	4	2	1	3	rs201810750	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:20027271C>T	ENST00000294543.6	-	14	1613	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	TMCO4_ENST00000375122.2_Missense_Mutation_p.G418S|TMCO4_ENST00000375127.1_Missense_Mutation_p.G458S|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	458						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGCAGTAGCCGTTGATGATC	0.567													C|||	2	0.000399361	0	0	5008	,	,		20088	0.002		0	False		,,,				2504	0					uc001bcn.3																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1372-1374)Ggc>Agc		Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.							143	126	132					1																	20027271		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20027271C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1372G>A	1.37:g.20027271C>T	ENSP00000294543:p.Gly458Ser					TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	p.G458S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	13	1614	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	458					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1372G>A	CCDS198.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.150385	0.94645	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.50813	0.73;0.73;0.73	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.89534	3.04	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.99;0.992	T	0.74150	-0.3758	10	0.31617	T	0.26	-10.7127	17.4392	0.87561	0.0:1.0:0.0:0.0	.	42;458;418	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	S	458;458;418	ENSP00000294543:G458S;ENSP00000364269:G458S;ENSP00000364264:G418S	ENSP00000294543:G458S	G	-	1	0	TMCO4	19899858	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	5.915000	0.69973	2.806000	0.96561	0.655000	0.94253	GGC		0.567	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		T	20027271	C	T	20027271	3	4	38	1	0	0	0	0	1	0	0	0	15995	652	23	2	544	2	TMCO4	1	20027271	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	18798071	20027271	229223350	2	2328											
HOOK1	51361	broad.mit.edu	37	chr1	60299185	60299185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttattttaggttgtGcgatcaactgtgaaaagaag	12	13	10	6	1	1	2	1	1	0	1	2	3	2	2	1	1	3	2	1	1	6	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:60299185G>A	ENST00000371208.3	+	5	639	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	HOOK1_ENST00000395561.2_Missense_Mutation_p.A86T|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	128	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTAGGTTGTGCGATCAACTG	0.373																																						uc009wad.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(382-384)Gcg>Acg		Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.							97	100	99					1																	60299185		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60299185G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.382G>A	1.37:g.60299185G>A	ENSP00000360252:p.Ala128Thr					HOOK1_uc001czo.3_Missense_Mutation_p.A128T|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.A86T	p.A128T	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			5	484	+	all_cancers(7;0.000129)		128			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.382G>A	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339273	0.95783	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.35048	1.33;1.33;1.33	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73500	-0.3963	10	0.66056	D	0.02	.	19.6951	0.96022	0.0:0.0:1.0:0.0	.	128	Q9UJC3	HOOK1_HUMAN	T	128;128;86	ENSP00000398860:A128T;ENSP00000360252:A128T;ENSP00000378928:A86T	ENSP00000360252:A128T	A	+	1	0	HOOK1	60071773	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	8.197000	0.89727	2.728000	0.93425	0.585000	0.79938	GCG		0.373	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		A	60299185	G	A	60299185	3	1	38	1	0	0	0	0	1	0	0	0	7282	1319	46	3	400	3	HOOK1	1	60299185	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	40271914	60299185	188951436	3	2329											
RBMXL1	494115	broad.mit.edu	37	chr1	89448530	89448530	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcacttcggctgcttgagTaactgtctcgacttccacca	8	12	8	13	2	2	1	1	1	1	0	5	3	3	1	2	1	2	3	2	1	1	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:89448530T>A	ENST00000321792.5	-	2	1407	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y327F|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	327	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GCTGCTTGAGTAACTGTCTCG	0.517																																						uc021opo.1																			0											c.(979-981)tAc>tTc		Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.							189	188	188					1																	89448530		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448530T>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.980A>T	1.37:g.89448530T>A	ENSP00000318415:p.Tyr327Phe					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.Y327F|RBMXL1_uc001dms.3_Missense_Mutation_p.Y327F	p.Y327F	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN			0	980	-			327			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.980A>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416942	0.42918	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.79554	-1.28;-1.28	1.89	1.89	0.25635	.	0.213795	0.41396	D	0.000888	T	0.62720	0.2451	M	0.71581	2.175	0.26735	N	0.970519	P	0.49783	0.928	B	0.39465	0.3	T	0.59289	-0.7482	10	0.87932	D	0	-0.5885	7.4238	0.27088	0.0:0.0:0.0:1.0	.	327	Q96E39	RBMXL_HUMAN	F	327	ENSP00000318415:Y327F;ENSP00000446099:Y327F	ENSP00000318415:Y327F	Y	-	2	0	RBMXL1	89221118	1.000000	0.71417	0.982000	0.44146	0.817000	0.46193	3.526000	0.53509	0.874000	0.35823	0.254000	0.18369	TAC		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		A	89448530	T	A	89448530	3	1	38	1	0	0	0	0	1	0	0	0	13153	1638	57	5	196	5	RBMXL1	1	89448530	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	29149345	89448530	159802091	4	2330											
SPTA1	6708	broad.mit.edu	37	chr1	158622276	158622276	+	Frame_Shift_Del	DEL	T	T	-																															ccttttggaactcatcaaacTttttctgcagctcccaaaca																										TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:158622276delT	ENST00000368147.4	-	23	3536	c.3356delA	c.(3355-3357)aagfs	p.K1119fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1119					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3355-3357)aagfs		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							146	135	139					1																	158622276		1877	4116	5993	SO:0001589	frameshift_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158622276delT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3356delA	1.37:g.158622276delT	ENSP00000357129:p.Lys1119fs						p.K1119fs	NM_003126	NP_003117	P02549	SPTA1_HUMAN			22	3555	-	all_hematologic(112;0.0378)		1119					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	ENST00000368147.4	37	c.3356delA	CCDS41423.1																																																																																				0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		-	158622276	T	-	158622276	7	5	38	1	0	1	0	1	0	0	0	0	15115	1609	56	0	4023	0	SPTA1	1	158622276	Frame_Shift_Del	DEL	T	TCGA-06-0185-01A-01W-0254-08	69173746	158622276	90628345	5	2331											
DDR2	4921	broad.mit.edu	37	chr1	162749912	162749912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaaagacttacctccCtcaaccagccatttgtcctg	9	11	5	16	0	1	1	1	0	0	1	4	1	4	1	6	0	3	1	6	0	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:162749912C>T	ENST00000367922.3	+	19	2882	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	DDR2_ENST00000367921.3_Missense_Mutation_p.P815L|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	815	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P815L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ACTTACCTCCCTCAACCAGCC	0.438																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.3																			1	Substitution - Missense(1)	p.P815L(2)	central_nervous_system(1)	central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2443-2445)cCt>cTt		Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.							191	188	189					1																	162749912		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749912C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2444C>T	1.37:g.162749912C>T	ENSP00000356899:p.Pro815Leu					DDR2_uc001gcg.3_Missense_Mutation_p.P815L|AF268386_uc001gch.1_5'Flank	p.P815L	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		18	2909	+	all_hematologic(112;0.115)		815			Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2444C>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675411	0.47781	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83075	-1.68;-1.68	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.64404	1.975	0.41446	D	0.987956	B	0.18013	0.025	B	0.18263	0.021	T	0.70066	-0.4974	9	0.22706	T	0.39	.	18.0398	0.89315	0.0:1.0:0.0:0.0	.	815	Q16832	DDR2_HUMAN	L	815	ENSP00000356899:P815L;ENSP00000356898:P815L	ENSP00000356898:P815L	P	+	2	0	DDR2	161016536	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.571000	0.67404	2.602000	0.87976	0.557000	0.71058	CCT		0.438	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		T	162749912	C	T	162749912	3	4	38	1	0	0	0	0	1	0	0	0	4337	681	24	3	2506	3	DDR2	1	162749912	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	4127636	162749912	86500709	6	2332											
SMG7	9887	broad.mit.edu	37	chr1	183511445	183511445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttaccttcaaagaaaaCattaagacacgagaagtgaa	18	8	9	6	1	1	4	1	1	0	3	1	5	1	4	1	1	2	1	1	1	7	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:183511445C>T	ENST00000347615.2	+	14	1769	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SMG7_ENST00000367537.3_Silent_p.N579N|SMG7_ENST00000507469.1_Silent_p.N550N|SMG7_ENST00000456731.2_Silent_p.N508N|SMG7_ENST00000515829.2_Silent_p.N550N|SMG7_ENST00000508461.1_Silent_p.N508N	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	550					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAAGAAAACATTAAGACAC	0.428																																						uc001gqg.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1648-1650)aaC>aaT		Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.							127	125	126					1																	183511445		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183511445C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1650C>T	1.37:g.183511445C>T						SMG7_uc010pob.2_Silent_p.N579N|SMG7_uc021pga.1_Silent_p.N508N|SMG7_uc001gqf.3_Silent_p.N550N|SMG7_uc001gqh.3_Silent_p.N550N|SMG7_uc010poc.2_Silent_p.N508N	p.N550N	NM_173156	NP_775179	Q92540	SMG7_HUMAN			13	1900	+			550					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.1650C>T	CCDS1355.1																																																																																				0.428	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		T	183511445	C	T	183511445	2	4	38	1	0	0	0	0	0	0	0	1	14798	477	17	3		3	SMG7	1	183511445	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	20761533	183511445	65739176	7	2333											
HMCN1	83872	broad.mit.edu	37	chr1	185972975	185972975	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattggttcaaagatggcAagtgagtatcttttctgtat	10	17	9	5	0	4	2	2	1	2	1	4	2	4	2	0	2	0	4	0	2	4	7			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:185972975A>T	ENST00000271588.4	+	29	4703	c.4474A>T	c.(4474-4476)Aag>Tag	p.K1492*	HMCN1_ENST00000367492.2_Splice_Site_p.K1492*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1492	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGATGGCAAGTGAGTATC	0.388																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e29+1		Homo sapiens hemicentin 1 (HMCN1), mRNA.							109	85	93					1																	185972975		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185972975A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4475+1A>T	1.37:g.185972975A>T							p.K1492_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			29	4704	+			1492			Ig-like C2-type 12.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.4475_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	47	13.249572	0.99730	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.86	5.86	0.93980	.	0.090806	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8249	0.70104	1.0:0.0:0.0:0.0	.	.	.	.	X	1492	.	ENSP00000271588:K1492X	K	+	1	0	HMCN1	184239598	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.419000	0.73345	2.244000	0.73946	0.528000	0.53228	AAG		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Nonsense_Mutation	T	185972975	A	T	185972975	5	4	38	1	0	0	0	0	0	0	1	0	7220	144	5	5	4588	5	HMCN1	1	185972975	Splice_Site	SNP	A	TCGA-06-0185-01A-01W-0254-08	2461530	185972975	63277646	8	2334											
USH2A	7399	broad.mit.edu	37	chr1	216373084	216373084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggtcactgtaatgggCaagctgtgtaaacagccccc	9	9	12	11	0	1	0	1	0	0	0	1	0	1	0	2	2	3	5	2	2	4	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:216373084C>T	ENST00000307340.3	-	17	4082	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Silent_p.L1232L|USH2A_ENST00000366943.2_Silent_p.L1232L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1232	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTAATGGGCAAGCTGTGTA	0.483										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3694-3696)ttG>ttA		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							91	88	89					1																	216373084		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373084C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3696G>A	1.37:g.216373084C>T		HNSCC(13;0.011)				USH2A_uc001hkv.3_Silent_p.L1232L	p.L1232L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	16	4083	-			1232			Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.3696G>A	CCDS31025.1																																																																																				0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216373084	C	T	216373084	2	4	38	1	0	0	0	0	0	0	0	1	17033	709	25	3		3	USH2A	1	216373084	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	30400109	216373084	32877537	9	2335											
ZP4	57829	broad.mit.edu	37	chr1	238053434	238053434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttatccaggtgccaCagtcggagtcattctgcagc	7	13	9	12	1	3	0	1	0	2	0	5	1	4	1	2	2	3	1	2	2	1	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:238053434C>G	ENST00000366570.4	-	2	376	c.218G>C	c.(217-219)tGt>tCt	p.C73S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	73					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCAGGTGCCACAGTCGGAGTC	0.562																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(217-219)tGt>tCt		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							97	86	90					1																	238053434		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053434C>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.218G>C	1.37:g.238053434C>G	ENSP00000355529:p.Cys73Ser					LOC100130331_uc010pyc.2_Intron	p.C73S	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	505	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	73					B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.218G>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553506	0.45487	.	.	ENSG00000116996	ENST00000366570	D	0.83591	-1.74	5.07	4.15	0.48705	.	0.152154	0.44688	D	0.000426	D	0.88808	0.6537	M	0.84846	2.72	0.30787	N	0.74139	D	0.69078	0.997	P	0.59761	0.863	D	0.86758	0.1965	10	0.44086	T	0.13	-16.6865	9.0579	0.36416	0.0:0.8987:0.0:0.1013	.	73	Q12836	ZP4_HUMAN	S	73	ENSP00000355529:C73S	ENSP00000355529:C73S	C	-	2	0	ZP4	236120057	1.000000	0.71417	0.423000	0.26634	0.317000	0.28152	2.888000	0.48594	1.126000	0.42016	0.655000	0.94253	TGT		0.562	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			G	238053434	C	G	238053434	3	3	38	1	0	0	0	0	1	0	0	0	18215	478	17	5	1448	5	ZP4	1	238053434	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	21680350	238053434	11197187	10	2336											
OR2W5	441932	broad.mit.edu	37	chr1	247654759	247654759	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgatgctgggctccacCgagtgcgtcctcctggttgt	5	12	12	12	2	0	1	0	1	0	0	3	2	3	1	4	2	3	3	4	2	1	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:247654759C>T	ENST00000522351.1	+	0	390							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGCTCCACCGAGTGCGTCC	0.607																																						uc001icz.2																			1	Substitution - coding silent(1)	p.T110T(2)	ovary(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39						c.(328-330)acC>acT		Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.							97	93	94					1																	247654759		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654759C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654759C>T							p.T110T	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	390	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	110					B9EH85	Silent	SNP	ENST00000522351.1	37	c.330C>T																																																																																					0.607	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		T	247654759	C	T	247654759	1	4	38	0	1	0	0	0	0	0	0	0	11034	639	23	2		2	OR2W5	1	247654759	RNA	SNP	C	TCGA-06-0185-01A-01W-0254-08	9601325	247654759	1595862	11	2337											
TCF23	150921	broad.mit.edu	37	chr2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatagcccacctcacccGcacactcggccacgagttgc	9	6	7	19	3	1	0	1	0	0	0	2	1	1	0	4	1	3	2	4	1	2	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						uc010ylg.2																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		Homo sapiens transcription factor 23 (TCF23), mRNA.							103	111	108					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN			1	446	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		A	27373157	G	A	27373157	3	1	38	1	0	0	0	0	1	0	0	0	15689	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		27373157	215826216	12	2338											
PLB1	151056	broad.mit.edu	37	chr2	28764631	28764631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcaggagtccttcaccGtggttttccagcctttcttc	5	14	10	12	1	2	1	1	1	1	0	5	2	4	2	4	2	2	2	4	2	0	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:28764631G>A	ENST00000327757.5	+	13	876	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	PLB1_ENST00000422425.2_Missense_Mutation_p.V289M	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	278	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V278M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCTTCACCGTGGTTTTCCA	0.592																																						uc002rmb.2																			1	Substitution - Missense(1)	p.T277T(2)|p.V278M(2)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(832-834)Gtg>Atg		Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.							68	64	66					2																	28764631		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28764631G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.832G>A	2.37:g.28764631G>A	ENSP00000330442:p.Val278Met					PLB1_uc010ezj.2_Missense_Mutation_p.V289M	p.V278M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			12	876	+	Acute lymphoblastic leukemia(172;0.155)		278			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.832G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950703	0.53186	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.26067	1.93;1.76	5.6	3.76	0.43208	.	0.000000	0.64402	D	0.000006	T	0.55210	0.1906	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59279	-0.7484	10	0.59425	D	0.04	-20.1904	9.031	0.36258	0.0:0.1605:0.6728:0.1667	.	289;278	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	M	278;289	ENSP00000330442:V278M;ENSP00000416440:V289M	ENSP00000330442:V278M	V	+	1	0	PLB1	28618135	0.936000	0.31750	0.613000	0.29037	0.567000	0.35839	1.495000	0.35627	0.806000	0.34183	0.561000	0.74099	GTG		0.592	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28764631	G	A	28764631	3	1	38	1	0	0	0	0	1	0	0	0	12024	1145	40	1	915	1	PLB1	2	28764631	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	1391474	28764631	214434742	13	2339											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315522	73315544	+	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA	-																															ggggccaggactttagcctgAgcactcagctcctcctgtcc																								rs138135562		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	ENST00000258098.6	-	3	1442_1464	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	c.(1201-1224)cttggacaggaggagctgagtgctfs	p.LGQEELSA401fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	401					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.L406L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGCCTGAGCACTCAGCTCCTCCTGTCCAAGCACTGCCTC	0.637																																						uc002siu.4																			1	Substitution - coding silent(1)	p.L406L(2)	cervix(1)	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1201-1224)cttggacaggaggagctgagtgctfs		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	2.37:g.73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	ENSP00000258098:p.Leu401fs					RAB11FIP5_uc002sit.4_Frame_Shift_Del_p.L323fs	p.L401fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	1443_1465	-			401					O94939|Q9P0M1	Frame_Shift_Del	DEL	ENST00000258098.6	37	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	CCDS1923.1																																																																																				0.637	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		-	73315544	AGCACTCAGCTCCTCCTGTCCAA	-	73315522	7	5	38	1	0	1	0	1	0	0	0	0	12897	291	11	0	749	0	RAB11FIP5	2	73315522	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	TCGA-06-0185-01A-01W-0254-08	44550891	73315522	169883851	14	2340											
TTN	7273	broad.mit.edu	37	chr2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtttgatgggccGgcaagcttttattggatcag	7	13	14	7	1	1	1	1	1	0	0	2	2	2	2	2	5	1	3	2	5	2	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:179455353G>A	ENST00000591111.1	-	254	56400	c.56176C>T	c.(56176-56178)Cgg>Tgg	p.R18726W	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494W|TTN_ENST00000342992.6_Missense_Mutation_p.R17799W|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20367W|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11302W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427W|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGGGCCGGCAAGCTTTT	0.433																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53395-53397)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							109	107	107					2																	179455353		1876	4108	5984	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455353G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56176C>T	2.37:g.179455353G>A	ENSP00000465570:p.Arg18726Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11494W|TTN_uc021vta.1_Missense_Mutation_p.R11427W|TTN_uc021vtb.1_Missense_Mutation_p.R11302W	p.R17799W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	53620	-			18726			Ig-like 104.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53395C>T		.	.	.	.	.	.	.	.	.	.	G	10.43	1.346961	0.24426	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67382	0.2887	M	0.72118	2.19	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66917	-0.5802	9	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	11302;11427;11494;18726	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	17799;11302;11494;11427;11300	ENSP00000343764:R17799W;ENSP00000434586:R11302W;ENSP00000340554:R11494W;ENSP00000352154:R11427W	ENSP00000340554:R11494W	R	-	1	2	TTN	179163599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.212000	0.58514	2.906000	0.99361	0.655000	0.94253	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179455353	G	A	179455353	3	1	38	1	0	0	0	0	1	0	0	0	16732	1115	39	2	47116	2	TTN	2	179455353	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	106139831	179455353	63744020	15	2341											
STAT1	6772	broad.mit.edu	37	chr2	191862974	191862974	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcaagcattaaatacatcTtcttgagtaacagctgttct	12	15	6	8	0	4	1	1	1	3	0	4	1	4	1	0	0	4	4	0	0	5	6			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:191862974T>A	ENST00000361099.3	-	8	989	c.602A>T	c.(601-603)aAg>aTg	p.K201M	STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Missense_Mutation_p.K201M|STAT1_ENST00000392323.2_Missense_Mutation_p.K203M|STAT1_ENST00000392322.3_Missense_Mutation_p.K201M	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	201			K -> N (in IMD31B; not deleterious in terms of most STAT1 functions; causes abnormal splicing out of exon 8 from most mRNAs thereby decreasing protein levels by approximately 70%). {ECO:0000269|PubMed:20841510}.		apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.K201M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TAAATACATCTTCTTGAGTAA	0.338																																						uc010fse.2																			1	Substitution - Missense(1)	p.K201M(2)	central_nervous_system(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(601-603)aAg>aTg		Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	Fludarabine(DB01073)						159	153	155					2																	191862974		2202	4297	6499	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862974T>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.602A>T	2.37:g.191862974T>A	ENSP00000354394:p.Lys201Met					STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Missense_Mutation_p.K201M|STAT1_uc002usk.2_Missense_Mutation_p.K201M|STAT1_uc002usl.2_Missense_Mutation_p.K203M|STAT1_uc010fsf.1_Intron	p.K201M	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		6	1034	-			201					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.602A>T	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592876	0.46214	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.89	3.67	0.42095	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.356784	0.35772	N	0.002988	T	0.54663	0.1872	L	0.35723	1.085	0.54753	D	0.99998	B;B	0.31859	0.343;0.277	B;P	0.45660	0.26;0.489	T	0.58098	-0.7696	10	0.56958	D	0.05	-26.4507	7.6763	0.28488	0.1366:0.0:0.1419:0.7215	.	201;201	P42224-2;P42224	.;STAT1_HUMAN	M	201;201;201;203;109	ENSP00000354394:K201M;ENSP00000386244:K201M;ENSP00000376136:K201M;ENSP00000376137:K203M	ENSP00000354394:K201M	K	-	2	0	STAT1	191571219	0.944000	0.32072	0.982000	0.44146	0.645000	0.38454	1.554000	0.36266	2.052000	0.61016	0.533000	0.62120	AAG		0.338	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		A	191862974	T	A	191862974	3	1	38	1	0	0	0	0	1	0	0	0	15263	1609	56	5	1726	5	STAT1	2	191862974	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	12407621	191862974	51336399	16	2342											
COL6A3	1293	broad.mit.edu	37	chr2	238283533	238283533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgtactgcaccacggcCacgcggacccggtcctggcc	5	6	12	18	5	0	0	0	0	0	0	2	1	1	1	5	4	2	3	5	4	1	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:238283533C>T	ENST00000295550.4	-	8	3653	c.3201G>A	c.(3199-3201)gtG>gtA	p.V1067V	COL6A3_ENST00000472056.1_Silent_p.V460V|COL6A3_ENST00000392004.3_Silent_p.V861V|COL6A3_ENST00000409809.1_Silent_p.V861V|COL6A3_ENST00000353578.4_Silent_p.V861V|COL6A3_ENST00000392003.2_Silent_p.V660V|COL6A3_ENST00000346358.4_Silent_p.V867V|COL6A3_ENST00000347401.3_Silent_p.V866V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1067	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACCACGGCCACGCGGACCC	0.602																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3199-3201)gtG>gtA		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							62	61	62					2																	238283533		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283533C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3201G>A	2.37:g.238283533C>T						COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.3_Silent_p.V861V|COL6A3_uc002vwr.3_Silent_p.V660V	p.V1067V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3486	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1067			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3201G>A	CCDS33412.1																																																																																				0.602	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238283533	C	T	238283533	2	4	38	1	0	0	0	0	0	0	0	1	3701	581	21	3		3	COL6A3	2	238283533	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	46420559	238283533	4915840	17	2343											
FBLN2	2199	broad.mit.edu	37	chr3	13679197	13679197	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattggccccgcgccagcCttcacgggggacaccatcgc	6	5	12	18	5	1	0	1	0	0	0	2	1	1	1	5	3	1	1	5	3	0	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:13679197C>A	ENST00000295760.7	+	17	3402	c.3333C>A	c.(3331-3333)gcC>gcA	p.A1111A	FBLN2_ENST00000535798.1_Silent_p.A1137A|FBLN2_ENST00000404922.3_Silent_p.A1158A|FBLN2_ENST00000492059.1_Silent_p.A1158A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1111	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3472-3474)gcC>gcA		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							45	50	48					3																	13679197		2141	4235	6376	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679197C>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3333C>A	3.37:g.13679197C>A						FBLN2_uc011auz.2_Silent_p.A1137A|FBLN2_uc011avb.2_Silent_p.A1111A|FBLN2_uc011ava.2_Silent_p.A1158A	p.A1158A	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3856	+			1111			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3474C>A	CCDS46762.1																																																																																				0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13679197	C	A	13679197	2	1	38	1	0	0	0	0	0	0	0	1	5699	668	24	5		5	FBLN2	3	13679197	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		13679197	184343233	18	2344											
C3orf67	200844	broad.mit.edu	37	chr3	58849423	58849423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttccatgaggtgctgatCgtggtcttgatgaaaaagtg	9	14	12	6	1	2	4	0	4	2	0	4	4	3	4	1	2	1	1	1	2	2	2	rs571045260		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:58849423C>T	ENST00000482387.1	-	8	1175	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R360Q|C3orf67_ENST00000472469.1_Missense_Mutation_p.R267Q|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	360										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGTGCTGATCGTGGTCTTGA	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		18643	0		0	False		,,,				2504	0					uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1078-1080)cGa>cAa		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							146	140	142					3																	58849423		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58849423C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1079G>A	3.37:g.58849423C>T	ENSP00000417122:p.Arg360Gln					C3orf67_uc003dks.1_Missense_Mutation_p.R175Q|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.R175Q|C3orf67_uc003dkw.3_Missense_Mutation_p.R255Q	p.R360Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	11	1488	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	360					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	C	28.8	4.948623	0.92593	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.25579	1.93;1.91;1.79	5.39	5.39	0.77823	.	0.166460	0.40640	N	0.001053	T	0.49406	0.1555	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.46992	-0.9151	10	0.87932	D	0	-15.3205	17.7005	0.88293	0.0:1.0:0.0:0.0	.	267;360;360	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	Q	360;360;65;267	ENSP00000295966:R360Q;ENSP00000417122:R360Q;ENSP00000417271:R267Q	ENSP00000295966:R360Q	R	-	2	0	C3orf67	58824463	0.992000	0.36948	0.996000	0.52242	0.999000	0.98932	2.795000	0.47861	2.678000	0.91216	0.655000	0.94253	CGA		0.473	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		T	58849423	C	T	58849423	3	4	38	1	0	0	0	0	1	0	0	0	2241	884	31	2	632	2	C3orf67	3	58849423	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	45170226	58849423	139173007	19	2345											
IQCB1	9657	broad.mit.edu	37	chr3	121489274	121489274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatcaatctcatctccaGattcttctccaagcttcttc	10	14	3	14	0	6	1	2	0	5	1	10	2	6	1	2	0	2	1	2	0	3	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:121489274G>A	ENST00000310864.6	-	15	1929	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	IQCB1_ENST00000349820.6_Missense_Mutation_p.S439F	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	572					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCATCTCCAGATTCTTCTCC	0.448																																						uc010hre.1																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1714-1716)tCt>tTt		Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.							147	142	144					3																	121489274		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489274G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1715C>T	3.37:g.121489274G>A	ENSP00000311505:p.Ser572Phe					IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.S439F	p.S572F	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	14	1930	-			572					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1715C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	5.915	0.352981	0.11182	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79454	-1.27;-1.27	5.49	2.53	0.30540	.	0.846378	0.10901	N	0.621579	T	0.43433	0.1247	N	0.01576	-0.805	0.20638	N	0.999872	B;B	0.17465	0.022;0.001	B;B	0.14023	0.01;0.001	T	0.44065	-0.9352	10	0.05833	T	0.94	0.1309	3.8616	0.08998	0.1983:0.0:0.61:0.1917	.	572;439	Q15051;Q15051-2	IQCB1_HUMAN;.	F	572;439	ENSP00000311505:S572F;ENSP00000323756:S439F	ENSP00000311505:S572F	S	-	2	0	IQCB1	122971964	0.875000	0.30112	0.987000	0.45799	0.935000	0.57460	2.588000	0.46137	0.868000	0.35678	0.650000	0.86243	TCT		0.448	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		A	121489274	G	A	121489274	3	1	38	1	0	0	0	0	1	0	0	0	7803	942	33	3	85	3	IQCB1	3	121489274	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	62639851	121489274	76533156	20	2346											
AMOTL2	51421	broad.mit.edu	37	chr3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcctgctccagcagctCggcacgccgccgctggtcct	5	6	12	18	4	0	1	0	0	0	1	3	1	2	1	5	2	4	5	5	2	0	0	rs554840600		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134080563C>T	ENST00000422605.2	-	6	1532	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	AMOTL2_ENST00000513145.1_Missense_Mutation_p.E456K|AMOTL2_ENST00000514516.1_Missense_Mutation_p.E514K|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E456K			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	456					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652																																						uc003eqf.2																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1540-1542)Gag>Aag		Homo sapiens angiomotin like 2 (AMOTL2), mRNA.							12	13	12					3																	134080563		2196	4286	6482	SO:0001583	missense	51421							g.chr3:134080563C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1366G>A	3.37:g.134080563C>T	ENSP00000409999:p.Glu456Lys					AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	p.E514K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			5	1657	-			456					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1540G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.677346	0.96764	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.32	5.32	0.75619	.	0.048007	0.85682	D	0.000000	T	0.50599	0.1625	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.40869	-0.9540	10	0.48119	T	0.1	-30.6254	19.1782	0.93612	0.0:1.0:0.0:0.0	.	456;456;514	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	K	456;456;514;456	ENSP00000249883:E456K;ENSP00000409999:E456K;ENSP00000424765:E514K;ENSP00000425475:E456K	ENSP00000249883:E456K	E	-	1	0	AMOTL2	135563253	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	5.810000	0.69179	2.769000	0.95229	0.563000	0.77884	GAG		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		T	134080563	C	T	134080563	3	4	38	1	0	0	0	0	1	0	0	0	584	893	31	2	996	2	AMOTL2	3	134080563	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12591289	134080563	63941867	21	2347											
EPHB1	2047	broad.mit.edu	37	chr3	134920443	134920443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctaggaacattctggtcaAcagtaacctggtgtgcaagg	11	10	12	8	0	2	0	1	0	1	0	2	1	2	1	1	4	5	3	1	4	5	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134920443A>G	ENST00000398015.3	+	12	2628	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	EPHB1_ENST00000493838.1_Missense_Mutation_p.N314S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.N753S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTCTGGTCAACAGTAACCTG	0.552																																						uc003eqt.3																			1	Substitution - Missense(1)	p.N753S(2)|p.N753N(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2257-2259)aAc>aGc		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							172	174	173					3																	134920443		2200	4300	6500	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920443A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2258A>G	3.37:g.134920443A>G	ENSP00000381097:p.Asn753Ser					EPHB1_uc003equ.3_Missense_Mutation_p.N314S	p.N753S	NM_004441	NP_004432	P54762	EPHB1_HUMAN			11	2633	+			753			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2258A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136596	0.77662	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.61980	0.06;0.06	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	N	0.02247	-0.625	0.80722	D	1	B	0.31026	0.304	B	0.23275	0.045	T	0.45086	-0.9285	10	0.56958	D	0.05	.	15.7873	0.78315	1.0:0.0:0.0:0.0	.	753	P54762	EPHB1_HUMAN	S	753;314	ENSP00000381097:N753S;ENSP00000419574:N314S	ENSP00000381097:N753S	N	+	2	0	EPHB1	136403133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.186000	0.69663	0.460000	0.39030	AAC		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		G	134920443	A	G	134920443	3	3	38	1	0	0	0	0	1	0	0	0	5174	43	2	4	2304	4	EPHB1	3	134920443	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	839880	134920443	63101987	22	2348											
TRIM59	286827	broad.mit.edu	37	chr3	160156161	160156161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcaacgggttgaacctCaggaagtggtctttgtttca	10	14	10	7	1	4	1	3	1	1	0	4	2	4	2	1	3	2	2	1	3	4	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:160156161C>T	ENST00000309784.4	-	3	996	c.811G>A	c.(811-813)Gag>Aag	p.E271K	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.E271K|TRIM59_ENST00000543469.1_Missense_Mutation_p.E271K	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	271					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTGAACCTCAGGAAGTGGT	0.363																																						uc003fdm.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(811-813)Gag>Aag		Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.							97	102	100					3																	160156161		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156161C>T	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.811G>A	3.37:g.160156161C>T	ENSP00000311219:p.Glu271Lys					IFT80_uc003fda.3_Non-coding_Transcript|TRIM59_uc021xgt.1_Missense_Mutation_p.E271K	p.E271K	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	1006	-			271					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.811G>A	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842180	0.32513	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.23147	2.08;1.92	5.77	2.82	0.32997	.	1.107510	0.06571	N	0.748624	T	0.21022	0.0506	L	0.40543	1.245	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.21109	-1.0255	9	.	.	.	-11.8112	6.6293	0.22847	0.0:0.6634:0.1294:0.2072	.	271	Q8IWR1	TRI59_HUMAN	K	271	ENSP00000444313:E271K;ENSP00000311219:E271K	.	E	-	1	0	TRIM59	161638855	0.000000	0.05858	0.827000	0.32855	0.745000	0.42441	0.138000	0.16016	1.449000	0.47699	0.561000	0.74099	GAG		0.363	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		T	160156161	C	T	160156161	3	4	38	1	0	0	0	0	1	0	0	0	16529	835	29	3	404	3	TRIM59	3	160156161	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	25235718	160156161	37866269	23	2349											
SPATA5	166378	broad.mit.edu	37	chr4	123868606	123868606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatagtgctcatggataCgttggagcagacttgaaagt	13	10	12	6	1	1	2	1	1	0	1	1	4	1	4	0	2	3	4	0	2	4	4	rs139834687		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:123868606C>T	ENST00000274008.4	+	9	1746	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	559					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.Y559Y(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTCATGGATACGTTGGAGCAG	0.468													C|||	1	0.000199681	0	0.0014	5008	,	,		15244	0		0	False		,,,				2504	0					uc003iez.4																			1	Substitution - coding silent(1)	p.Y559Y(2)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1675-1677)taC>taT		Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.		C		0,4406		0,0,2203	121	117	118		1677	-1.5	1	4	dbSNP_134	118	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SPATA5	NM_145207.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		559/894	123868606	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123868606C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1677C>T	4.37:g.123868606C>T						SPATA5_uc003iey.3_Silent_p.Y558Y	p.Y559Y	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			8	1750	+			559					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.1677C>T	CCDS3730.1																																																																																				0.468	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		T	123868606	C	T	123868606	2	4	38	1	0	0	0	0	0	0	0	1	15010	547	19	1		1	SPATA5	4	123868606	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		123868606	67285670	24	2350											
PHF17	79960	broad.mit.edu	37	chr4	129770286	129770286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgacatggatgctgcaTggctggaactgaccaatgaa	13	9	11	8	0	1	3	1	3	0	0	1	5	1	5	1	3	3	3	1	3	4	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:129770286T>A	ENST00000226319.6	+	5	728	c.448T>A	c.(448-450)Tgg>Agg	p.W150R	PHF17_ENST00000413543.2_Missense_Mutation_p.W150R|PHF17_ENST00000512960.1_Missense_Mutation_p.W150R|PHF17_ENST00000511647.1_Missense_Mutation_p.W150R|PHF17_ENST00000452328.2_Missense_Mutation_p.W138R	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGATGCTGCATGGCTGGAACT	0.468																																						uc011cgy.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(448-450)Tgg>Agg		Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.							124	108	113					4																	129770286		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770286T>A																												ENST00000226319.6:c.448T>A	4.37:g.129770286T>A	ENSP00000226319:p.Trp150Arg					PHF17_uc003igj.3_Missense_Mutation_p.W150R|PHF17_uc003igk.3_Missense_Mutation_p.W150R|PHF17_uc003igl.3_Missense_Mutation_p.W138R|PHF17_uc003igm.3_Missense_Mutation_p.W150R	p.W150R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			4	762	+			150						Missense_Mutation	SNP	ENST00000226319.6	37	c.448T>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281509	0.80692	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.58	4.58	0.56647	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.84168	0.0432	9	.	.	.	.	14.4002	0.67037	0.0:0.0:0.0:1.0	.	138;150;150	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	R	150;150;138;150;150;150	ENSP00000226319:W150R;ENSP00000423737:W150R;ENSP00000388015:W138R;ENSP00000425730:W150R;ENSP00000404211:W150R	.	W	+	1	0	PHF17	129989736	1.000000	0.71417	0.916000	0.36221	0.765000	0.43378	7.193000	0.77780	2.036000	0.60181	0.533000	0.62120	TGG		0.468	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			A	129770286	T	A	129770286	3	1	38	1	0	0	0	0	1	0	0	0	11828	1464	51	5	462	5	PHF17	4	129770286	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	5901680	129770286	61383990	25	2351											
FNIP2	57600	broad.mit.edu	37	chr4	159789510	159789510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcattacggtgaggaaCgagcccgctcttgtaccccc	7	9	12	13	3	2	1	1	1	1	0	2	3	2	2	3	3	4	2	3	3	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:159789510C>T	ENST00000264433.6	+	13	1797	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N	FNIP2_ENST00000379346.3_Silent_p.N597N	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	574	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGTGAGGAACGAGCCCGCTC	0.537																																						uc003iqe.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1720-1722)aaC>aaT		Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.							83	89	87					4																	159789510		2078	4214	6292	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789510C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1722C>T	4.37:g.159789510C>T							p.N574N	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	1905	+	all_hematologic(180;0.24)		574			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.1722C>T	CCDS47155.1																																																																																				0.537	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		T	159789510	C	T	159789510	2	4	38	1	0	0	0	0	0	0	0	1	5976	535	19	1		1	FNIP2	4	159789510	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	30019224	159789510	31364766	26	2352											
HEATR7B2	133558	broad.mit.edu	37	chr5	41052628	41052628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaatggccatccttccCgagcttcaatataggacttt	11	12	6	12	1	2	0	2	0	0	0	4	2	4	1	3	2	1	1	3	2	5	5	rs566379429	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:41052628C>T	ENST00000399564.4	-	12	1619	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	390								p.R390L(1)									CCATCCTTCCCGAGCTTCAAT	0.393													C|||	4	0.000798722	0	0	5008	,	,		13192	0		0	False		,,,				2504	0.0041					uc003jmj.4																			1	Substitution - Missense(1)	p.R390L(2)	lung(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1168-1170)cGg>cAg		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							100	93	95					5																	41052628		1872	4105	5977	SO:0001583	missense	133558						binding	g.chr5:41052628C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1169G>A	5.37:g.41052628C>T	ENSP00000382476:p.Arg390Gln					HEATR7B2_uc003jmi.4_Intron	p.R390Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			11	1659	-			390					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1169G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975775	0.34848	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.67865	-0.29	5.53	2.81	0.32909	Armadillo-type fold (1);	0.591456	0.15122	N	0.279323	T	0.54615	0.1869	L	0.47716	1.5	0.09310	N	0.999996	B	0.14012	0.009	B	0.10450	0.005	T	0.39210	-0.9625	10	0.21540	T	0.41	.	7.5783	0.27950	0.0:0.7376:0.0:0.2624	.	390	Q7Z745	HTRB2_HUMAN	Q	94;390	ENSP00000382476:R390Q	ENSP00000296803:R94Q	R	-	2	0	HEATR7B2	41088385	0.020000	0.18652	0.941000	0.38009	0.999000	0.98932	0.483000	0.22292	0.304000	0.22809	0.655000	0.94253	CGG		0.393	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41052628	C	T	41052628	3	4	38	1	0	0	0	0	1	0	0	0	7035	652	23	2	3712	2	HEATR7B2	5	41052628	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		41052628	139862632	27	2353											
TRPC7	57113	broad.mit.edu	37	chr5	135692669	135692669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggctgagcgtcaggCgctggccctgcgcgaaggcc	5	4	17	15	5	1	1	1	1	0	0	1	2	1	1	3	4	3	2	3	4	1	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:135692669C>T	ENST00000513104.1	-	2	689	c.407G>A	c.(406-408)cGc>cAc	p.R136H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R136H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R136H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	136					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCGTCAGGCGCTGGCCCTG	0.672																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(406-408)cGc>cAc		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							63	71	68					5																	135692669		2203	4300	6503	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692669C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.407G>A	5.37:g.135692669C>T	ENSP00000426070:p.Arg136His					TRPC7_uc010jef.2_Missense_Mutation_p.R127H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R136H|TRPC7_uc010jei.2_Missense_Mutation_p.R136H	p.R136H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	629	-			136					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.407G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983479	0.93044	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79033	-1.07;-1.23;-1.17	5.14	5.14	0.70334	Ankyrin repeat-containing domain (2);	0.055828	0.64402	D	0.000001	D	0.82765	0.5108	L	0.34521	1.04	0.44194	D	0.997018	D;D;D;D	0.89917	0.998;0.996;1.0;0.994	P;P;D;D	0.72338	0.806;0.852;0.977;0.93	T	0.82337	-0.0507	10	0.42905	T	0.14	-14.558	18.7977	0.92001	0.0:1.0:0.0:0.0	.	136;136;136;136	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	136	ENSP00000347312:R136H;ENSP00000441628:R136H;ENSP00000426070:R136H	ENSP00000265193:R136H	R	-	2	0	TRPC7	135720568	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.666000	0.90696	0.561000	0.74099	CGC		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135692669	C	T	135692669	3	4	38	1	0	0	0	0	1	0	0	0	16581	768	27	1	2225	1	TRPC7	5	135692669	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	94640041	135692669	45222591	28	2354											
UNC5A	90249	broad.mit.edu	37	chr5	176304269	176304269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctcacgctgcacaagccGgaagacgtgaggtgtggccg	9	6	14	12	4	1	2	1	1	0	1	1	3	1	3	3	3	3	2	3	3	3	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:176304269G>A	ENST00000329542.4	+	9	1729	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	UNC5A_ENST00000261961.3_Silent_p.P445P	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	485	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACAAGCCGGAAGACGTGA	0.652																																						uc003mey.3																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1453-1455)ccG>ccA		Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.							46	45	46					5																	176304269		2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304269G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1455G>A	5.37:g.176304269G>A							p.P485P	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1647	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	485			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1455G>A	CCDS34299.1																																																																																				0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		A	176304269	G	A	176304269	2	1	38	1	0	0	0	0	0	0	0	1	16988	1103	39	2		2	UNC5A	5	176304269	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	40611600	176304269	4610991	29	2355											
ATXN1	6310	broad.mit.edu	37	chr6	16306892	16306892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagtgcttcagcaggaCgctggcgggatccacgggct	6	9	15	11	3	1	1	1	1	0	0	2	3	2	3	1	4	2	4	1	4	0	2	rs199795863		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:16306892C>T	ENST00000244769.4	-	9	3052	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	ATXN1_ENST00000436367.1_Missense_Mutation_p.V706I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	706	Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGCAGGACGCTGGCGGGA	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		17477	0		0	False		,,,				2504	0					uc003nbt.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(2116-2118)Gtc>Atc		Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.							58	58	58					6																	16306892		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16306892C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2116G>A	6.37:g.16306892C>T	ENSP00000244769:p.Val706Ile					ATXN1_uc010jpi.3_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_Non-coding_Transcript	p.V706I	NM_000332	NP_001121636	P54253	ATX1_HUMAN			8	3087	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	706			Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.2116G>A	CCDS34342.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.97	2.097404	0.37048	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.77229	-1.08;-1.08	6.06	2.96	0.34315	.	0.756408	0.12751	N	0.442176	T	0.25644	0.0624	N	0.02011	-0.69	0.19945	N	0.999944	B	0.09022	0.002	B	0.01281	0.0	T	0.09930	-1.0652	10	0.30854	T	0.27	-21.7506	2.3779	0.04346	0.1914:0.3224:0.3714:0.1148	.	706	P54253	ATX1_HUMAN	I	706	ENSP00000244769:V706I;ENSP00000416360:V706I	ENSP00000244769:V706I	V	-	1	0	ATXN1	16414871	0.357000	0.24938	0.996000	0.52242	0.995000	0.86356	0.407000	0.21049	1.559000	0.49555	0.650000	0.86243	GTC		0.582	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		T	16306892	C	T	16306892	3	4	38	1	0	0	0	0	1	0	0	0	1209	536	19	1	335	1	ATXN1	6	16306892	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		16306892	154808175	30	2356											
MICB	4277	broad.mit.edu	37	chr6	31474865	31474865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccgtgacatgcagggCttccagcttctatccccgga	8	9	9	15	2	2	1	1	1	1	0	4	2	4	2	4	2	2	3	4	2	1	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:31474865C>T	ENST00000252229.6	+	4	759	c.680C>T	c.(679-681)gCt>gTt	p.A227V	MICB_ENST00000399150.3_Missense_Mutation_p.A184V|MICB_ENST00000538442.1_Missense_Mutation_p.A195V	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACATGCAGGGCTTCCAGCTTC	0.587																																						uc003ntn.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(679-681)gCt>gTt		Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.							70	74	72					6																	31474865		1396	2638	4034	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474865C>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.680C>T	6.37:g.31474865C>T	ENSP00000252229:p.Ala227Val					MICB_uc011dnm.2_Missense_Mutation_p.A195V|MICB_uc021yuq.1_Missense_Mutation_p.A195V|MICB_uc003nto.4_Missense_Mutation_p.A184V	p.A227V	NM_005931	NP_005922	Q29980	MICB_HUMAN			3	796	+			227			Ig-like C1-type.			Missense_Mutation	SNP	ENST00000252229.6	37	c.680C>T	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696047	0.48202	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.13538	2.58;2.58;2.58	2.73	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.34484	U	0.003926	T	0.15652	0.0377	L	0.59912	1.85	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	T	0.02326	-1.1176	10	0.87932	D	0	.	5.6484	0.17602	0.0:0.8415:0.0:0.1585	.	195;184;227	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	V	195;184;227	ENSP00000442345:A195V;ENSP00000382103:A184V;ENSP00000252229:A227V	ENSP00000252229:A227V	A	+	2	0	MICB	31582844	0.015000	0.18098	0.004000	0.12327	0.016000	0.09150	0.359000	0.20233	1.518000	0.48934	0.305000	0.20034	GCT		0.587	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		T	31474865	C	T	31474865	3	4	38	1	0	0	0	0	1	0	0	0	9575	797	28	3	694	3	MICB	6	31474865	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	15167973	31474865	139640202	31	2357											
KATNA1	11104	broad.mit.edu	37	chr6	149918283	149918283	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcatcagccaattccAactcacgtagacttattcgt	13	11	4	13	2	3	1	3	0	0	1	5	1	4	1	2	0	3	1	2	0	5	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:149918283A>C	ENST00000335647.5	-	9	1237	c.1193T>G	c.(1192-1194)tTg>tGg	p.L398W	KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000367411.2_Missense_Mutation_p.L398W|KATNA1_ENST00000494504.1_5'UTR|SNORA2_ENST00000365473.1_RNA					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCCAATTCCAACTCACGTAG	0.388																																						uc003qmr.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(1192-1194)tTg>tGg		Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.							168	148	154					6																	149918283		2202	4300	6502	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149918283A>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1193T>G	6.37:g.149918283A>C	ENSP00000335106:p.Leu398Trp					KATNA1_uc003qms.3_Missense_Mutation_p.L398W|KATNA1_uc003qmt.3_Intron	p.L398W	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	8	1238	-		Ovarian(120;0.0164)	398						Missense_Mutation	SNP	ENST00000335647.5	37	c.1193T>G	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739742	0.89573	.	.	ENSG00000186625	ENST00000335647;ENST00000367411	D;D	0.95412	-3.7;-3.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	L	0.37466	1.105	0.80722	D	1	D	0.63046	0.992	D	0.66084	0.941	D	0.94374	0.7598	9	.	.	.	.	15.6054	0.76664	1.0:0.0:0.0:0.0	.	398	O75449	KTNA1_HUMAN	W	398	ENSP00000335106:L398W;ENSP00000356381:L398W	.	L	-	2	0	KATNA1	149959976	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.265000	0.95647	2.089000	0.63090	0.533000	0.62120	TTG		0.388	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		C	149918283	A	C	149918283	3	2	38	1	0	0	0	0	1	0	0	0	7984	131	5	5	290	5	KATNA1	6	149918283	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	118443418	149918283	21196784	32	2358											
SYTL3	94120	broad.mit.edu	37	chr6	159178400	159178400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtccttccgctggcatcCgctccgggccaaggtgatgt	6	9	12	14	3	0	1	0	1	0	0	4	1	4	1	5	3	0	3	5	3	1	1	rs147104644		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:159178400C>T	ENST00000297239.9	+	13	1489	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	SYTL3_ENST00000360448.3_Missense_Mutation_p.P364L|SYTL3_ENST00000367081.3_Missense_Mutation_p.P158L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	432					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGCTGGCATCCGCTCCGGGCC	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		17501	0		0	False		,,,				2504	0					uc003qrp.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1294-1296)cCg>cTg		Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	89	77	81		1091,1295,1295,1091	0.6	0	6	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	364/543,432/611,432/611,364/543	159178400	1,13005	2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178400C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1295C>T	6.37:g.159178400C>T	ENSP00000297239:p.Pro432Leu					SYTL3_uc003qrr.3_Missense_Mutation_p.P432L|SYTL3_uc003qro.3_Missense_Mutation_p.P364L|SYTL3_uc003qrs.3_Missense_Mutation_p.P364L|SYTL3_uc011efq.2_Missense_Mutation_p.P158L	p.P432L	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1694	+		Breast(66;0.000776)|Ovarian(120;0.0303)	432					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1295C>T	CCDS56458.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.508	-0.313719	0.05422	2.27E-4	0.0	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.70631	3.04;3.04;-0.5	5.07	0.643	0.17770	C2 calcium/lipid-binding domain, CaLB (1);	0.463786	0.22817	N	0.055262	T	0.56031	0.1958	M	0.65975	2.015	0.31267	N	0.692163	D;D;D	0.63046	0.991;0.992;0.984	P;B;P	0.51657	0.612;0.408;0.676	T	0.50466	-0.8825	10	0.30078	T	0.28	.	6.292	0.21065	0.4178:0.413:0.0:0.1692	.	158;432;364	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	L	364;432;432;158	ENSP00000353631:P364L;ENSP00000297239:P432L;ENSP00000356048:P158L	ENSP00000297239:P432L	P	+	2	0	SYTL3	159098388	0.551000	0.26497	0.001000	0.08648	0.141000	0.21300	1.263000	0.33004	0.168000	0.19655	0.491000	0.48974	CCG		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			T	159178400	C	T	159178400	3	4	38	1	0	0	0	0	1	0	0	0	15481	652	23	2	1125	2	SYTL3	6	159178400	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	9260117	159178400	11936667	33	2359											
MLLT4	4301	broad.mit.edu	37	chr6	168363130	168363130	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tagttgcaggacgaggagcgGaggcggcagcagcagttaga	11	5	18	7	3	0	1	0	0	0	1	0	5	0	4	0	5	4	6	0	5	2	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363130G>C	ENST00000447894.2	+	30	4830	c.4830G>C	c.(4828-4830)cgG>cgC	p.R1610R	MLLT4_ENST00000400822.3_Silent_p.R1620R|MLLT4_ENST00000344191.4_Silent_p.R1622R|MLLT4_ENST00000392108.3_Silent_p.R1608R|MLLT4_ENST00000392112.1_Silent_p.R1593R|MLLT4_ENST00000366806.2_Silent_p.R1610R|MLLT4_ENST00000351017.4_Silent_p.R1617R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1610					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACGAGGAGCGGAGGCGGCAGC	0.547			T	MLL	AL																																	uc021zik.1				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4699-4701)cgG>cgC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.							49	62	58					6																	168363130		2057	4204	6261	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168363130G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4830G>C	6.37:g.168363130G>C						MLLT4_uc003qwc.2_Silent_p.R1608R|MLLT4_uc021zij.1_Silent_p.R1593R|MLLT4_uc021zim.1_Silent_p.R1167R|MLLT4_uc003qwg.1_Silent_p.R919R|MLLT4_uc021zin.1_Non-coding_Transcript	p.R1567R	NM_001040000	NP_001035089	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	5020	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1610					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4701G>C		.	.	.	.	.	.	.	.	.	.	G	8.413	0.844513	0.16963	.	.	ENSG00000130396	ENST00000507704;ENST00000476946	.	.	.	4.37	-2.37	0.06643	.	.	.	.	.	T	0.51415	0.1673	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59064	-0.7524	4	.	.	.	-5.2912	13.9837	0.64321	0.0869:0.651:0.2622:0.0	.	.	.	.	A	99;86	.	.	G	+	2	0	MLLT4	168105979	0.920000	0.31207	0.209000	0.23619	0.954000	0.61252	0.077000	0.14738	-0.228000	0.09869	-0.229000	0.12294	GGA		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168363130	G	C	168363130	2	2	38	1	0	0	0	0	0	0	0	1	9629	1161	41	5		5	MLLT4	6	168363130	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	9184730	168363130	2751937	34	2360											
MLLT4	4301	broad.mit.edu	37	chr6	168363191	168363191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagaccgagcgaggcaaGaggaagagcgccggcggcag	12	0	19	10	6	0	3	0	0	0	3	0	7	0	5	2	5	2	2	2	5	3	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363191G>C	ENST00000447894.2	+	30	4891	c.4891G>C	c.(4891-4893)Gag>Cag	p.E1631Q	MLLT4_ENST00000400822.3_Missense_Mutation_p.E1641Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1643Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1629Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1614Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.E1631Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1638Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1631					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGAGGCAAGAGGAAGAGCG	0.542			T	MLL	AL																																	uc021zik.1				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4762-4764)Gag>Cag		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.							88	111	103					6																	168363191		2034	4171	6205	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168363191G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4891G>C	6.37:g.168363191G>C	ENSP00000404595:p.Glu1631Gln					MLLT4_uc003qwc.2_Missense_Mutation_p.E1629Q|MLLT4_uc021zij.1_Missense_Mutation_p.E1614Q|MLLT4_uc021zim.1_Missense_Mutation_p.E1188Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q|MLLT4_uc021zin.1_Non-coding_Transcript	p.E1588Q	NM_001040000	NP_001035089	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	5081	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1631			Asp/Glu-rich (acidic).		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4762G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289646|3.289646	0.59976|0.59976	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.60548|.	3.76;0.18;3.52;0.18;0.18;0.39;0.18|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.66694|0.66694	0.2815|0.2815	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999946|0.999946	D;D;D|.	0.71674|.	0.997;0.998;0.996|.	D;D;D|.	0.80764|.	0.986;0.994;0.991|.	T|T	0.68496|0.68496	-0.5393|-0.5393	10|5	0.54805|.	T|.	0.06|.	-3.0466|-3.0466	16.5979|16.5979	0.84801|0.84801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1631;1641;1629|.	P55196;P55196-5;P55196-6|.	AFAD_HUMAN;.;.|.	Q|N	1643;1638;1629;1631;1614;1643;1641;1631|119;106	ENSP00000341118:E1643Q;ENSP00000252692:E1638Q;ENSP00000375956:E1629Q;ENSP00000355771:E1631Q;ENSP00000375960:E1614Q;ENSP00000383623:E1641Q;ENSP00000404595:E1631Q|.	ENSP00000345834:E1643Q|.	E|K	+|+	1|3	0|2	MLLT4|MLLT4	168106040|168106040	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.040000|0.040000	0.13550|0.13550	8.223000|8.223000	0.89779|0.89779	1.963000|1.963000	0.57068|0.57068	0.591000|0.591000	0.81541|0.81541	GAG|AAG		0.542	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168363191	G	C	168363191	3	2	38	1	0	0	0	0	1	0	0	0	9629	943	33	5	5121	5	MLLT4	6	168363191	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	61	168363191	2751876	35	2361											
ABCB5	340273	broad.mit.edu	37	chr7	20689724	20689724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggcagtgggaagagtaCggtagtccagcttctgcaga	11	8	14	8	1	1	2	0	0	1	2	2	3	2	3	1	3	3	5	1	3	4	3	rs144527025	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:20689724C>T	ENST00000404938.2	+	12	1938	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	429	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGAAGAGTACGGTAGTCCAG	0.468													C|||	9	0.00179712	0.0068	0	5008	,	,		16367	0		0	False		,,,				2504	0					uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1285-1287)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.		C	MET/THR,,,	15,3121		0,15,1553	100	89	92		1286,,,	5.1	0.9	7	dbSNP_134	92	0,7164		0,0,3582	yes	missense,utr-5,utr-5,utr-5	ABCB5	NM_001163941.1,NM_001163942.1,NM_001163993.1,NM_178559.5	81,,,	0,15,5135	TT,TC,CC		0.0,0.4783,0.1456	probably-damaging,,,	429/1258,,,	20689724	15,10285	1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20689724C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1286C>T	7.37:g.20689724C>T	ENSP00000384881:p.Thr429Met					ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	p.T429M	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN			11	1523	+			613			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Translation_Start_Site	SNP	ENST00000404938.2	37	c.1286C>T	CCDS55090.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	20.3	3.973212	0.74246	0.004783	0.0	ENSG00000004846	ENST00000404938	D	0.95035	-3.59	5.14	5.14	0.70334	.	.	.	.	.	D	0.97288	0.9113	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96147	0.9105	9	0.87932	D	0	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	429	A7BKA4	.	M	429	ENSP00000384881:T429M	ENSP00000384881:T429M	T	+	2	0	ABCB5	20656249	1.000000	0.71417	0.941000	0.38009	0.629000	0.37895	5.839000	0.69395	2.775000	0.95449	0.650000	0.86243	ACG		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		T	20689724	C	T	20689724	3	4	38	1	0	0	0	0	1	0	0	0	44	536	19	1	1328	1	ABCB5	7	20689724	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		20689724	138448939	36	2362											
EGFR	1956	broad.mit.edu	37	chr7	55240707	55240707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtccatcgccactgggatgGtgggggccctcctcttgctg	3	10	14	14	2	1	0	0	0	1	0	4	1	3	1	4	4	1	1	4	4	0	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55240707G>A	ENST00000275493.2	+	17	2128	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	EGFR_ENST00000454757.2_Missense_Mutation_p.V598M|EGFR_ENST00000455089.1_Missense_Mutation_p.V606M|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	651					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.V651M(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACTGGGATGGTGGGGGCCCT	0.622		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		2	Substitution - Missense(2)	p.V651M(4)	lung(1)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1951-1953)Gtg>Atg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92	81	84					7																	55240707		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240707G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1951G>A	7.37:g.55240707G>A	ENSP00000275493:p.Val651Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.V651M|EGFR_uc010kzg.2_Missense_Mutation_p.V606M|EGFR_uc022adn.1_Missense_Mutation_p.V606M|EGFR_uc011kco.2_Missense_Mutation_p.V598M	p.V651M	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2197	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		651					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1951G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655898	0.67586	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.76968	-1.05;-1.06;-1.05	5.67	4.78	0.61160	.	0.054586	0.64402	D	0.000001	D	0.82356	0.5019	M	0.81942	2.565	0.58432	D	0.999991	P;P	0.43662	0.814;0.814	P;P	0.47251	0.508;0.542	D	0.85099	0.0956	10	0.72032	D	0.01	.	13.6691	0.62414	0.0764:0.0:0.9236:0.0	.	606;651	Q504U8;P00533	.;EGFR_HUMAN	M	606;521;651;598;445	ENSP00000415559:V606M;ENSP00000275493:V651M;ENSP00000395243:V598M	ENSP00000275493:V651M	V	+	1	0	EGFR	55208201	1.000000	0.71417	0.361000	0.25849	0.252000	0.25951	7.579000	0.82511	2.647000	0.89833	0.655000	0.94253	GTG		0.622	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55240707	G	A	55240707	3	1	38	1	0	0	0	0	1	0	0	0	4967	1261	44	3	2281	3	EGFR	7	55240707	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	34550983	55240707	103897956	37	2363											
SEPT14	346288	broad.mit.edu	37	chr7	55874788	55874788	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttttactcacctaacTggctggttgtttggacccac	9	15	7	10	0	1	0	1	0	0	0	1	1	1	1	2	3	2	3	2	3	4	7			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55874788T>A	ENST00000388975.3	-	8	1097	c.981A>T	c.(979-981)ccA>ccT	p.P327P		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	327					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCACCTAACTGGCTGGTTGT	0.348																																						uc003tqz.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(979-981)ccA>ccT		Homo sapiens septin 14 (SEPT14), mRNA.							96	90	92					7																	55874788		2203	4300	6503	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874788T>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.981A>T	7.37:g.55874788T>A							p.P327P	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	1098	-	Breast(14;0.214)		327					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.981A>T	CCDS5519.2																																																																																				0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		A	55874788	T	A	55874788	2	1	38	1	0	0	0	0	0	0	0	1	14063	1567	55	5		5	SEPT14	7	55874788	Silent	SNP	T	TCGA-06-0185-01A-01W-0254-08	634081	55874788	103263875	38	2364											
DYNC1I1	1780	broad.mit.edu	37	chr7	95499217	95499217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactgcataaactgggcGtgtcaaaggtcacccaagtg	13	7	12	9	1	2	1	2	0	0	1	2	2	2	1	1	2	2	1	1	2	5	1	rs201114371	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:95499217G>A	ENST00000324972.6	+	6	641	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V113M|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V130M|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V133M|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V133M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V113M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	150					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAAACTGGGCGTGTCAAAGGT	0.453													G|||	2	0.000399361	0	0.0029	5008	,	,		20381	0		0	False		,,,				2504	0					uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(448-450)Gtg>Atg		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							144	133	137					7																	95499217		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95499217G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.448G>A	7.37:g.95499217G>A	ENSP00000320130:p.Val150Met					DYNC1I1_uc003uod.4_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V139M	p.V150M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		5	725	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		150					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.448G>A	CCDS5644.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	4.959	0.178065	0.09443	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.75260	-0.6;-0.54;-0.92;-0.62;-0.7;-0.6	5.33	5.33	0.75918	.	0.063242	0.64402	D	0.000007	T	0.45677	0.1354	N	0.00841	-1.15	0.49299	D	0.999778	B;B;B;B;B	0.29646	0.253;0.102;0.213;0.253;0.213	B;B;B;B;B	0.23150	0.044;0.026;0.026;0.044;0.026	T	0.52019	-0.8631	10	0.23302	T	0.38	-2.5743	18.1916	0.89808	0.0:0.0:1.0:0.0	.	133;130;133;150;113	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	M	133;150;113;130;113;133	ENSP00000392337:V133M;ENSP00000320130:V150M;ENSP00000438377:V113M;ENSP00000398118:V130M;ENSP00000352348:V113M;ENSP00000412444:V133M	ENSP00000320130:V150M	V	+	1	0	DYNC1I1	95337153	1.000000	0.71417	0.981000	0.43875	0.975000	0.68041	4.060000	0.57477	2.673000	0.90976	0.650000	0.86243	GTG		0.453	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95499217	G	A	95499217	3	1	38	1	0	0	0	0	1	0	0	0	4842	1145	40	1	466	1	DYNC1I1	7	95499217	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	39624429	95499217	63639446	39	2365											
RABL5	64792	broad.mit.edu	37	chr7	100959700	100959700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgtcctgtaaggaCggctgttggacaaagcagga	10	9	14	8	1	0	0	0	0	0	0	1	3	1	3	1	4	1	4	1	4	2	2	rs145991606	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:100959700C>T	ENST00000315322.4	-	4	423	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RABL5_ENST00000517481.1_Silent_p.P33P|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.P80P|RABL5_ENST00000498704.2_Silent_p.P33P	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		110					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCTGTAAGGACGGCTGTTGGA	0.473													C|||	2	0.000399361	8e-04	0	5008	,	,		19113	0		0.001	False		,,,				2504	0					uc003uyl.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(328-330)ccG>ccA		Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.		C	,,,	19,4387	27.2+/-55.0	0,19,2184	213	179	191		240,99,99,330	5.2	0.8	7	dbSNP_134	191	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RABL5	NM_001130820.1,NM_001130821.1,NM_001130822.1,NM_022777.2	,,,	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	,,,	80/156,33/109,33/109,110/186	100959700	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	64792						GTP binding	g.chr7:100959700C>T																												ENST00000315322.4:c.330G>A	7.37:g.100959700C>T						RABL5_uc011kkk.2_Silent_p.P33P|RABL5_uc011kkl.2_Silent_p.P33P|RABL5_uc003uym.3_Silent_p.P80P|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Silent_p.P110P	p.P110P	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN			3	433	-	Lung NSC(181;0.215)		110					Q49AG1|Q69YV5|Q9BSW4	Silent	SNP	ENST00000315322.4	37	c.330G>A	CCDS5719.1																																																																																				0.473	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1			T	100959700	C	T	100959700	2	4	38	1	0	0	0	0	0	0	0	1	12973	523	19	1		1	RABL5	7	100959700	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	5460483	100959700	58178963	40	2366											
LAMB4	22798	broad.mit.edu	37	chr7	107671256	107671256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagaactaatgaccttctCaagactcccagcctggtgtt	10	11	9	11	0	1	3	1	1	1	2	3	3	2	3	3	2	2	2	3	2	4	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:107671256C>T	ENST00000388781.3	-	32	5070	c.4987G>A	c.(4987-4989)Gag>Aag	p.E1663K	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1663K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E1663K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1663	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGACCTTCTCAAGACTCCCA	0.473																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4987-4989)Gag>Aag		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							223	182	196					7																	107671256		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107671256C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4987G>A	7.37:g.107671256C>T	ENSP00000373433:p.Glu1663Lys					LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	p.E1663K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			31	5071	-			1663			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4987G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	4.073	0.011369	0.07912	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;D;T	0.85013	1.48;1.48;-1.93;1.5	5.32	2.5	0.30297	.	0.547984	0.16240	N	0.223195	T	0.73016	0.3533	L	0.39898	1.24	0.09310	N	0.999998	B;B	0.22983	0.078;0.02	B;B	0.24701	0.055;0.005	T	0.54609	-0.8268	10	0.06891	T	0.86	.	4.7697	0.13150	0.0:0.628:0.1788:0.1931	.	1663;1663	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	K	1663;1663;689;1663	ENSP00000205386:E1663K;ENSP00000373433:E1663K;ENSP00000416562:E689K;ENSP00000373432:E1663K	ENSP00000205386:E1663K	E	-	1	0	LAMB4	107458492	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.200000	0.09478	0.363000	0.24346	0.585000	0.79938	GAG		0.473	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107671256	C	T	107671256	3	4	38	1	0	0	0	0	1	0	0	0	8613	835	29	3	310	3	LAMB4	7	107671256	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	6711556	107671256	51467407	41	2367											
BRAF	673	broad.mit.edu	37	chr7	140453148	140453148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagatttcactgtagctagaCcaaaatcacctatttttact	13	14	5	9	0	2	2	2	0	0	2	2	3	2	2	2	0	2	2	2	0	6	7	rs397507483		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:140453148C>T	ENST00000288602.6	-	15	1847	c.1787G>A	c.(1786-1788)gGt>gAt	p.G596D		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:17344846}.|G -> V (in CFC1). {ECO:0000269|PubMed:16439621}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G596D(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGTAGCTAGACCAAAATCACC	0.388		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	2	Substitution - Missense(2)	p.F595L(8)|p.G596R(6)|p.G596D(4)|p.F595S(3)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(1)	cervix(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060877	BRAF	M		c.(1786-1788)gGt>gAt		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						108	101	104					7																	140453148		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453148C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1787G>A	7.37:g.140453148C>T	ENSP00000288602:p.Gly596Asp						p.G596D	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1848	-	Melanoma(164;0.00956)		596		G -> R (in a colorectal adenocarcinoma sample; somatic mutation).|G -> V (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1787G>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.243334|5.243334	0.95272|0.95272	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.99893|.	-7.57|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87712|0.87712	0.6246|0.6246	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90507|0.90507	0.4478|0.4478	10|5	0.87932|.	D|.	0|.	.|.	19.7917|19.7917	0.96461|0.96461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	596|.	P15056|.	BRAF_HUMAN|.	D|I	596|204	ENSP00000288602:G596D|.	ENSP00000288602:G596D|.	G|V	-|-	2|1	0|0	BRAF|BRAF	140099617|140099617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.702000|7.702000	0.84576|0.84576	2.686000|2.686000	0.91538|0.91538	0.650000|0.650000	0.86243|0.86243	GGT|GTC		0.388	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453148	C	T	140453148	3	4	38	1	0	0	0	0	1	0	0	0	1496	507	18	3	529	3	BRAF	7	140453148	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	32781892	140453148	18685515	42	2368											
ADAM9	8754	broad.mit.edu	37	chr8	38873654	38873654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaatcattgtcattatcgGggctatgtggagggagttca	10	13	13	5	1	3	1	3	0	0	1	4	3	3	3	0	4	0	2	0	4	4	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:38873654G>A	ENST00000487273.2	+	5	429	c.351G>A	c.(349-351)cgG>cgA	p.R117R	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	117				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.|R -> Q (in Ref. 4; BAA03499). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTCATTATCGGGGCTATGTGG	0.338																																						uc003xmr.3																			0		p.R117L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(349-351)cgG>cgA		Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.							209	194	199					8																	38873654		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38873654G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.351G>A	8.37:g.38873654G>A						ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	p.R117R	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		4	429	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	117	Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).				B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.351G>A	CCDS6112.1																																																																																				0.338	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			A	38873654	G	A	38873654	2	1	38	1	0	0	0	0	0	0	0	1	253	1219	43	3		3	ADAM9	8	38873654	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08		38873654	107490368	43	2369											
RP1	6101	broad.mit.edu	37	chr8	55539225	55539225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacataaatccatatccaaCtttaaagcctataaaatcag	19	10	3	9	0	1	0	1	0	0	0	3	1	3	0	3	0	3	0	3	0	10	6			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:55539225C>A	ENST00000220676.1	+	4	2931	c.2783C>A	c.(2782-2784)aCt>aAt	p.T928N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	928					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATATCCAACTTTAAAGCCT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2782-2784)aCt>aAt		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							35	37	36					8																	55539225		2200	4300	6500	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539225C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2783C>A	8.37:g.55539225C>A	ENSP00000220676:p.Thr928Asn					RP1_uc011ldy.1_Intron	p.T928N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	2931	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	928						Missense_Mutation	SNP	ENST00000220676.1	37	c.2783C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327863	0.24080	.	.	ENSG00000104237	ENST00000220676	T	0.47177	0.85	5.89	4.06	0.47325	.	1.015710	0.07881	N	0.969478	T	0.30479	0.0766	L	0.29908	0.895	0.09310	N	1	P	0.45902	0.868	B	0.34038	0.174	T	0.27331	-1.0077	10	0.72032	D	0.01	.	3.728	0.08482	0.183:0.5443:0.0:0.2728	.	928	P56715	RP1_HUMAN	N	928	ENSP00000220676:T928N	ENSP00000220676:T928N	T	+	2	0	RP1	55701778	0.066000	0.20996	0.001000	0.08648	0.723000	0.41478	0.777000	0.26718	0.781000	0.33589	0.655000	0.94253	ACT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55539225	C	A	55539225	3	1	38	1	0	0	0	0	1	0	0	0	13532	565	20	5	2793	5	RP1	8	55539225	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	16665571	55539225	90824797	44	2370											
RALYL	138046	broad.mit.edu	37	chr8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaattccgctgaagcGtcccagagtggcagtcacaa	11	8	11	11	2	1	2	1	1	0	1	3	2	3	2	2	1	2	4	2	1	3	2	rs371267637		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		15673	0		0	False		,,,				2504	0					uc003yct.4																			0		p.G171*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(511-513)cGt>cAt		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3846		0,2,1922	59	61	60		512,473,473,473	5.2	1	8		60	1,8273		0,1,4136	no	missense,missense,missense,missense	RALYL	NM_001100391.1,NM_001100392.1,NM_001100393.1,NM_173848.5	29,29,29,29	0,3,6058	AA,AG,GG		0.0121,0.052,0.0247	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	171/305,158/292,158/292,158/292	85774590	3,12119	1924	4137	6061	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774590G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.473G>A	8.37:g.85774590G>A	ENSP00000430367:p.Arg158His					RALYL_uc003ycq.4_Missense_Mutation_p.R158H|RALYL_uc003ycr.4_Missense_Mutation_p.R158H|RALYL_uc003ycs.4_Missense_Mutation_p.R158H|RALYL_uc010lzy.3_Missense_Mutation_p.R147H|RALYL_uc003ycu.4_Missense_Mutation_p.R85H	p.R171H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN			5	646	+			158					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.512G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409671	0.83340	5.2E-4	1.21E-4	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.25749	2.31;2.31;2.31;2.39;2.29;1.94;1.78	5.25	5.25	0.73442	.	0.048014	0.85682	D	0.000000	T	0.49762	0.1576	L	0.58810	1.83	0.43275	D	0.995234	P;D;P;P;D	0.89917	0.755;1.0;0.953;0.939;1.0	B;D;B;P;D	0.79784	0.312;0.993;0.267;0.565;0.993	T	0.47433	-0.9118	10	0.62326	D	0.03	-4.6088	19.1979	0.93696	0.0:0.0:1.0:0.0	.	147;158;85;171;158	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	158;158;158;147;171;85;69	ENSP00000430394:R158H;ENSP00000428667:R158H;ENSP00000430367:R158H;ENSP00000430065:R147H;ENSP00000430128:R171H;ENSP00000428807:R85H;ENSP00000428310:R69H	ENSP00000430128:R171H	R	+	2	0	RALYL	85937145	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT		0.507	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			A	85774590	G	A	85774590	3	1	38	1	0	0	0	0	1	0	0	0	13020	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	30235365	85774590	60589432	45	2371											
COL22A1	169044	broad.mit.edu	37	chr8	139856384	139856384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctccttctacacgaaCgctaggacagagcacatctg	11	8	9	13	3	3	1	0	0	3	1	4	4	3	2	1	1	3	2	1	1	3	3	rs184963131	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:139856384C>T	ENST00000303045.6	-	4	1122	c.676G>A	c.(676-678)Gtt>Att	p.V226I	COL22A1_ENST00000435777.1_Missense_Mutation_p.V226I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	226					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTACACGAACGCTAGGACAG	0.463										HNSCC(7;0.00092)			C|||	2	0.000399361	0	0	5008	,	,		23701	0.002		0	False		,,,				2504	0					uc003yvd.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(676-678)Gtt>Att		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							283	250	261					8																	139856384		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139856384C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.676G>A	8.37:g.139856384C>T	ENSP00000303153:p.Val226Ile	HNSCC(7;0.00092)					p.V226I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1123	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		226					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.676G>A	CCDS6376.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	3.944	-0.013691	0.07681	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.88664	-2.41;-2.32	5.01	2.23	0.28157	.	0.152115	0.29730	N	0.011343	T	0.74336	0.3703	N	0.12961	0.28	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.57545	-0.7793	9	.	.	.	.	5.1043	0.14775	0.0:0.6432:0.1711:0.1857	.	226	Q8NFW1	COMA1_HUMAN	I	226	ENSP00000303153:V226I;ENSP00000387655:V226I	.	V	-	1	0	COL22A1	139925566	0.996000	0.38824	0.009000	0.14445	0.292000	0.27327	2.247000	0.43151	0.307000	0.22880	0.650000	0.86243	GTT		0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139856384	C	T	139856384	3	4	38	1	0	0	0	0	1	0	0	0	3681	536	19	1	4452	1	COL22A1	8	139856384	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	54081794	139856384	6507638	46	2372											
C9orf131	138724	broad.mit.edu	37	chr9	35043416	35043416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatactatggaagatctaGaagggatggcccccgatcct	11	8	10	12	1	1	2	0	0	1	2	2	5	2	4	4	3	1	0	4	3	5	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043416G>A	ENST00000312292.5	+	2	837	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.E191K|C9orf131_ENST00000421362.2_Missense_Mutation_p.E216K	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	264										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAAGATCTAGAAGGGATGGC	0.547																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(790-792)Gaa>Aaa		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							142	128	133					9																	35043416		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043416G>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.790G>A	9.37:g.35043416G>A	ENSP00000308279:p.Glu264Lys					C9orf131_uc003zvu.3_Missense_Mutation_p.E216K|C9orf131_uc003zvv.3_Missense_Mutation_p.E191K|C9orf131_uc003zvx.3_Missense_Mutation_p.E229K	p.E264K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	819	+	all_epithelial(49;0.22)		264					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.790G>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606367	0.66445	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.44881	1.76;1.73;1.79;0.91	4.95	1.99	0.26369	.	0.140229	0.33161	N	0.005202	T	0.37972	0.1023	M	0.68317	2.08	0.09310	N	1	P;P;P	0.40332	0.713;0.551;0.551	B;B;B	0.40477	0.33;0.209;0.209	T	0.34453	-0.9828	10	0.87932	D	0	-2.4053	5.0742	0.14622	0.1917:0.1728:0.6355:0.0	.	264;191;216	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	K	216;191;264;229	ENSP00000393683:E216K;ENSP00000346472:E191K;ENSP00000308279:E264K;ENSP00000368019:E229K	ENSP00000308279:E264K	E	+	1	0	C9orf131	35033416	0.050000	0.20438	0.124000	0.21820	0.043000	0.13939	0.419000	0.21247	0.650000	0.30769	0.650000	0.86243	GAA		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		A	35043416	G	A	35043416	3	1	38	1	0	0	0	0	1	0	0	0	2457	943	33	3	812	3	C9orf131	9	35043416	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		35043416	106170015	47	2373											
C9orf131	138724	broad.mit.edu	37	chr9	35043985	35043985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagcatctgagacaccatgGaagggcatgcaaagtagaga	15	5	12	9	0	1	2	0	1	1	2	1	5	1	3	2	2	2	4	2	2	3	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043985G>C	ENST00000312292.5	+	2	1406	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.W380C|C9orf131_ENST00000421362.2_Missense_Mutation_p.W405C	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGACACCATGGAAGGGCATGC	0.542																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1357-1359)tgG>tgC		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							77	80	79					9																	35043985		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043985G>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1359G>C	9.37:g.35043985G>C	ENSP00000308279:p.Trp453Cys					C9orf131_uc003zvu.3_Missense_Mutation_p.W405C|C9orf131_uc003zvv.3_Missense_Mutation_p.W380C|C9orf131_uc003zvx.3_Missense_Mutation_p.W418C	p.W453C	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	1388	+	all_epithelial(49;0.22)		453					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1359G>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646326	0.29246	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15834	2.4;2.39;2.4	5.0	2.09	0.27110	.	1.824450	0.02957	N	0.142613	T	0.14227	0.0344	L	0.31420	0.93	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.20384	0.017;0.029;0.029	T	0.24048	-1.0171	10	0.34782	T	0.22	12.4084	5.1292	0.14901	0.1876:0.1722:0.6401:0.0	.	453;380;405	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	C	405;380;453	ENSP00000393683:W405C;ENSP00000346472:W380C;ENSP00000308279:W453C	ENSP00000308279:W453C	W	+	3	0	C9orf131	35033985	0.000000	0.05858	0.001000	0.08648	0.390000	0.30446	0.133000	0.15912	0.699000	0.31761	0.655000	0.94253	TGG		0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		C	35043985	G	C	35043985	3	2	38	1	0	0	0	0	1	0	0	0	2457	1183	41	5	1381	5	C9orf131	9	35043985	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	569	35043985	106169446	48	2374											
RUSC2	9853	broad.mit.edu	37	chr9	35548294	35548294	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactggatgagggcacttgCtgtagccatagcctgccacc	8	8	11	14	0	0	1	0	1	0	0	0	2	0	2	5	2	4	3	5	2	2	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35548294C>A	ENST00000455600.1	+	2	2345	c.1776C>A	c.(1774-1776)tgC>tgA	p.C592*		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	592						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCACTTGCTGTAGCCATA	0.637																																						uc003zww.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1774-1776)tgC>tgA		Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.							44	40	41					9																	35548294		2203	4300	6503	SO:0001587	stop_gained	9853					cytosol		g.chr9:35548294C>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1776C>A	9.37:g.35548294C>A	ENSP00000393922:p.Cys592*					RUSC2_uc010mkq.3_Intron|RUSC2_uc003zwx.4_Nonsense_Mutation_p.C592*	p.C592*	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		1	2031	+			592					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Nonsense_Mutation	SNP	ENST00000455600.1	37	c.1776C>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494455	0.96339	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	.	.	.	5.86	2.91	0.33838	.	1.025130	0.07661	N	0.933640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.1489	6.2397	0.20783	0.2385:0.58:0.1156:0.0659	.	.	.	.	X	592	.	ENSP00000355177:C592X	C	+	3	2	RUSC2	35538294	0.012000	0.17670	0.909000	0.35828	0.809000	0.45718	0.021000	0.13489	0.766000	0.33244	-0.169000	0.13324	TGC		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		A	35548294	C	A	35548294	4	1	38	1	0	0	0	0	0	1	0	0	13751	805	28	5	1778	5	RUSC2	9	35548294	Nonsense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	504309	35548294	105665137	49	2375											
EXOSC3	51010	broad.mit.edu	37	chr9	37785036	37785036	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgacagacgcaggttcGgccatcgcgggctccaccaa	8	4	13	16	6	0	1	0	0	0	1	3	2	1	1	4	3	0	3	4	3	1	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:37785036G>T	ENST00000327304.5	-	1	18	c.6C>A	c.(4-6)gcC>gcA	p.A2A	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'Flank|EXOSC3_ENST00000396521.3_Silent_p.A2A	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	2					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACGCAGGTTCGGCCATCGCGG	0.662																																						uc004aal.2																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(4-6)gcC>gcA		Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.							14	15	14					9																	37785036		2199	4294	6493	SO:0001819	synonymous_variant	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37785036G>T	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.6C>A	9.37:g.37785036G>T						EXOSC3_uc010mly.1_Silent_p.A2A|EXOSC3_uc004aam.2_Silent_p.A2A	p.A2A	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	0	32	-			2					A8K0K6|Q5QP85|Q9Y3A8	Silent	SNP	ENST00000327304.5	37	c.6C>A	CCDS35016.1																																																																																				0.662	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		T	37785036	G	T	37785036	2	4	38	1	0	0	0	0	0	0	0	1	5316	1103	39	5		5	EXOSC3	9	37785036	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	2236742	37785036	103428395	50	2376											
OR13F1	138805	broad.mit.edu	37	chr9	107266629	107266629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcaggtcatcatatttgCggtgtgcttgctgatgtacc	7	15	11	8	1	3	1	3	1	0	0	3	1	3	1	1	2	4	4	1	2	2	5	rs191015152	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:107266629C>T	ENST00000334726.2	+	1	175	c.86C>T	c.(85-87)gCg>gTg	p.A29V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCATATTTGCGGTGTGCTTG	0.418													C|||	3	0.000599042	8e-04	0	5008	,	,		19901	0.001		0.001	False		,,,				2504	0					uc011lvm.2																			0		p.A29A(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(85-87)gCg>gTg		Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135	120	125		86	-1.4	0.1	9		125	0,8600		0,0,4300	yes	missense	OR13F1	NM_001004485.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	29/320	107266629	1,13005	2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266629C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.86C>T	9.37:g.107266629C>T	ENSP00000334452:p.Ala29Val						p.A29V	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			0	86	+			29					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.86C>T	CCDS35087.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	0.003	-2.490952	0.00161	2.27E-4	0.0	ENSG00000186881	ENST00000334726	T	0.00384	7.6	3.91	-1.43	0.08884	.	0.972477	0.08401	N	0.951439	T	0.00073	0.0002	N	0.00453	-1.485	0.19300	N	0.999972	B	0.06786	0.001	B	0.06405	0.002	T	0.28808	-1.0032	10	0.02654	T	1	.	4.9732	0.14127	0.0:0.3918:0.1738:0.4344	.	29	Q8NGS4	O13F1_HUMAN	V	29	ENSP00000334452:A29V	ENSP00000334452:A29V	A	+	2	0	OR13F1	106306450	0.002000	0.14202	0.126000	0.21872	0.028000	0.11728	1.345000	0.33953	-0.241000	0.09681	-1.197000	0.01672	GCG		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			T	107266629	C	T	107266629	3	4	38	1	0	0	0	0	1	0	0	0	10941	768	27	1	88	1	OR13F1	9	107266629	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	69481593	107266629	33946802	51	2377											
MUC5B	727897	broad.mit.edu	37	chr11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgcccaccggatccaCggccaccgcctcctccaccc	6	4	9	22	4	0	0	0	0	0	0	3	2	3	1	9	3	1	0	9	3	0	0	rs369158178		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:1267649C>T	ENST00000529681.1	+	31	9597	c.9539C>T	c.(9538-9540)aCg>aTg	p.T3180M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3183M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3180	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGATCCACGGCCACCGCC	0.687													c|||	1	0.000199681	0	0	5008	,	,		16818	0		0.001	False		,,,				2504	0					uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9538-9540)aCg>aTg		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							72	95	87					11																	1267649		2099	4193	6292	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267649C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9539C>T	11.37:g.1267649C>T	ENSP00000436812:p.Thr3180Met						p.T3180M	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	9598	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3180	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9539C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	0.848	-0.739697	0.03088	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.20332	2.08;2.26	1.81	-3.63	0.04529	.	.	.	.	.	T	0.19127	0.0459	L	0.55990	1.75	0.09310	N	1	D;D	0.67145	0.987;0.996	P;P	0.48030	0.467;0.564	T	0.09314	-1.0680	9	0.87932	D	0	.	0.575	0.00702	0.2558:0.3132:0.2203:0.2106	.	3763;3183	A7Y9J9;E9PBJ0	.;.	M	3180;3183;3152;3140;68	ENSP00000436812:T3180M;ENSP00000415793:T3183M	ENSP00000343037:T3152M	T	+	2	0	MUC5B	1224225	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.544000	0.06077	-3.223000	0.00211	0.121000	0.15741	ACG		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1267649	C	T	1267649	3	4	38	1	0	0	0	0	1	0	0	0	9979	536	19	1	9670	1	MUC5B	11	1267649	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		1267649	133738867	52	2378											
LRRC55	219527	broad.mit.edu	37	chr11	56949722	56949722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagcctggcccacaacCgcatcacagcagtgccgcct	9	5	8	19	2	2	0	2	0	0	0	2	0	2	0	6	1	4	2	6	1	1	0	rs575568934		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:56949722C>T	ENST00000497933.1	+	1	502	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	89					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCCACAACCGCATCACAGC	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		19259	0		0	False		,,,				2504	0					uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(355-357)Cgc>Tgc		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							63	64	63					11																	56949722		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949722C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.355C>T	11.37:g.56949722C>T	ENSP00000419542:p.Arg119Cys						p.R119C	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	502	+			89					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.355C>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752365	0.69533	.	.	ENSG00000183908	ENST00000497933	T	0.45668	0.89	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000010	T	0.58921	0.2156	M	0.61703	1.905	0.52501	D	0.999959	D	0.63046	0.992	D	0.63192	0.912	T	0.59947	-0.7358	10	0.66056	D	0.02	.	13.7615	0.62968	0.1538:0.8462:0.0:0.0	.	89	Q6ZSA7	LRC55_HUMAN	C	119	ENSP00000419542:R119C	ENSP00000419542:R119C	R	+	1	0	LRRC55	56706298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.515000	0.35845	2.735000	0.93741	0.655000	0.94253	CGC		0.597	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		T	56949722	C	T	56949722	3	4	38	1	0	0	0	0	1	0	0	0	9011	652	23	2	357	2	LRRC55	11	56949722	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	55682073	56949722	78056794	53	2379											
AHNAK	79026	broad.mit.edu	37	chr11	62301253	62301253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcggagaggctgccccCgagcccgagggcagtctgat	6	6	15	14	3	1	2	0	1	1	1	2	5	1	2	4	3	2	2	4	3	0	0	rs141489091	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:62301253C>T	ENST00000378024.4	-	5	910	c.636G>A	c.(634-636)tcG>tcA	p.S212S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	212					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCTGCCCCCGAGCCCGAGG	0.562													C|||	6	0.00119808	0.0045	0	5008	,	,		16341	0		0	False		,,,				2504	0					uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(634-636)tcG>tcA		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.		C	,	12,4392	19.1+/-41.9	0,12,2190	65	70	68		636,	-11.2	0.2	11	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,13,6488	TT,TC,CC		0.0116,0.2725,0.1	,	212/5891,	62301253	13,12989	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301253C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.636G>A	11.37:g.62301253C>T						AHNAK_uc001ntk.1_Intron	p.S212S	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	936	-		Melanoma(852;0.155)	212					A1A586	Silent	SNP	ENST00000378024.4	37	c.636G>A	CCDS31584.1																																																																																				0.562	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62301253	C	T	62301253	2	4	38	1	0	0	0	0	0	0	0	1	414	639	23	2		2	AHNAK	11	62301253	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	5351531	62301253	72705263	54	2380											
SNX15	29907	broad.mit.edu	37	chr11	64800008	64800008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttccctgctttccccCgggcccaggtgtttggtgag	4	11	14	12	1	0	1	0	1	0	0	2	2	2	2	4	4	1	3	4	4	0	3	rs142024969		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:64800008C>T	ENST00000377244.3	+	3	371	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SNX15_ENST00000352068.5_Missense_Mutation_p.R81W|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	81	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTTTCCCCCGGGCCCAGGT	0.627													C|||	1	0.000199681	0	0	5008	,	,		17733	0		0.001	False		,,,				2504	0				Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(241-243)Cgg>Tgg		Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.							59	51	54					11																	64800008		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64800008C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.241C>T	11.37:g.64800008C>T	ENSP00000366452:p.Arg81Trp					SNX15_uc001ock.3_Missense_Mutation_p.R81W	p.R81W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			5	895	+			81			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.241C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500018	0.44455	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.95	3.0	0.34707	Phox homologous domain (5);	0.056358	0.64402	D	0.000001	T	0.53594	0.1806	M	0.75615	2.305	0.53688	D	0.999972	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.68765	0.96;0.793;0.96	T	0.56318	-0.7999	10	0.87932	D	0	-6.6401	7.8492	0.29444	0.1599:0.7533:0.0:0.0868	.	81;81;81	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	W	81;77;69;81	ENSP00000366452:R81W;ENSP00000437277:R77W;ENSP00000431690:R69W;ENSP00000316410:R81W	ENSP00000316410:R81W	R	+	1	2	SNX15	64556584	0.884000	0.30299	0.641000	0.29422	0.012000	0.07955	2.180000	0.42537	1.314000	0.45095	-0.136000	0.14681	CGG		0.627	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			T	64800008	C	T	64800008	3	4	38	1	0	0	0	0	1	0	0	0	14886	643	23	2	251	2	SNX15	11	64800008	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	2498755	64800008	70206508	55	2381											
HSPB2	3316	broad.mit.edu	37	chr11	111784541	111784541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacatttggacacagaggtCaatgaggtctacatctccct	11	10	9	11	1	3	2	1	1	2	1	4	4	3	3	1	3	1	0	1	3	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:111784541C>T	ENST00000304298.3	+	2	1059	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CRYAB_ENST00000526180.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000525823.1_5'Flank|HSPB2_ENST00000537382.1_Silent_p.V157V|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000531198.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	157					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACACAGAGGTCAATGAGGTCT	0.592																																						uc001pmg.2																			0				large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(469-471)gtC>gtT		Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.							54	51	52					11																	111784541		2201	4297	6498	SO:0001819	synonymous_variant	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784541C>T	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.471C>T	11.37:g.111784541C>T						CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	p.V157V	NM_001541	NP_001532	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	1	565	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	157					Q6I9U7	Silent	SNP	ENST00000304298.3	37	c.471C>T	CCDS8352.1																																																																																				0.592	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			T	111784541	C	T	111784541	2	4	38	1	0	0	0	0	0	0	0	1	7420	813	29	3		3	HSPB2	11	111784541	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	46984533	111784541	23221975	56	2382											
PDZD3	79849	broad.mit.edu	37	chr11	119059718	119059718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacaacaccaggtgaCtccaggaggctcagctgccc	9	4	10	18	0	1	1	1	1	0	0	2	2	2	2	5	3	3	2	5	3	1	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:119059718C>T	ENST00000531114.1	+	8	2039	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	PDZD3_ENST00000355547.5_Missense_Mutation_p.T431I|PDZD3_ENST00000392817.2_Missense_Mutation_p.T497I|PDZD3_ENST00000322712.4_Missense_Mutation_p.T417I|PDZD3_ENST00000525131.1_Missense_Mutation_p.T418I			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	497	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CACCAGGTGACTCCAGGAGGC	0.602																																						uc001pwb.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(1489-1491)aCt>aTt		Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.							58	63	61					11																	119059718		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059718C>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1490C>T	11.37:g.119059718C>T	ENSP00000431164:p.Thr497Ile					PDZD3_uc001pvz.3_Missense_Mutation_p.T431I|PDZD3_uc010rzd.2_Missense_Mutation_p.T418I|PDZD3_uc001pvy.3_Missense_Mutation_p.T417I|PDZD3_uc001pwa.3_Missense_Mutation_p.T127I	p.T497I			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	7	2014	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	497			PDZ 4.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.1490C>T		.	.	.	.	.	.	.	.	.	.	C	14.25	2.479392	0.44044	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	4.96	4.02	0.46733	PDZ/DHR/GLGF (4);	0.285094	0.33364	N	0.004999	T	0.27349	0.0671	N	0.11927	0.2	0.80722	D	1	D;D;D;D	0.76494	0.999;0.98;0.989;0.991	D;P;P;D	0.71656	0.974;0.866;0.864;0.909	T	0.05852	-1.0860	10	0.38643	T	0.18	-8.0705	8.2075	0.31465	0.1787:0.6484:0.1729:0.0	.	418;497;431;417	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	I	418;497;431;417;431;497	ENSP00000434559:T418I;ENSP00000431164:T497I;ENSP00000347742:T431I;ENSP00000327107:T417I;ENSP00000376564:T497I	ENSP00000327107:T417I	T	+	2	0	PDZD3	118564928	0.286000	0.24305	0.992000	0.48379	0.911000	0.54048	0.564000	0.23563	1.020000	0.39573	0.561000	0.74099	ACT		0.602	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		T	119059718	C	T	119059718	3	4	38	1	0	0	0	0	1	0	0	0	11702	565	20	3	1330	3	PDZD3	11	119059718	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	7275177	119059718	15946798	57	2383											
VSIG2	23584	broad.mit.edu	37	chr11	124620786	124620786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgacttagaaccagttGgatacagatggccattggtg	10	12	12	7	0	0	3	0	1	0	2	0	4	0	4	2	3	2	2	2	3	3	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:124620786G>A	ENST00000326621.5	-	3	351	c.251C>T	c.(250-252)cCa>cTa	p.P84L	VSIG2_ENST00000403470.1_Missense_Mutation_p.P84L	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	84	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGAACCAGTTGGATACAGATG	0.537																																						uc001qas.3																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(250-252)cCa>cTa		Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.							80	71	74					11																	124620786		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124620786G>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.251C>T	11.37:g.124620786G>A	ENSP00000318684:p.Pro84Leu					VSIG2_uc001qat.3_Missense_Mutation_p.P84L	p.P84L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	2	327	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	84			Ig-like V-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.251C>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663510	0.29515	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.66099	-0.19;-0.19	5.28	3.28	0.37604	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.422391	0.22553	N	0.058574	T	0.34135	0.0887	N	0.11818	0.18	0.45515	D	0.998477	B	0.14438	0.01	B	0.17722	0.019	T	0.11299	-1.0593	10	0.09338	T	0.73	.	3.6372	0.08153	0.2037:0.0:0.5975:0.1988	.	84	Q96IQ7	VSIG2_HUMAN	L	84	ENSP00000318684:P84L;ENSP00000385013:P84L	ENSP00000318684:P84L	P	-	2	0	VSIG2	124125996	0.946000	0.32159	0.995000	0.50966	0.992000	0.81027	1.330000	0.33781	1.463000	0.47967	0.655000	0.94253	CCA		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		A	124620786	G	A	124620786	3	1	38	1	0	0	0	0	1	0	0	0	17221	1348	47	3	752	3	VSIG2	11	124620786	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	5561068	124620786	10385730	58	2384											
SLC6A13	6540	broad.mit.edu	37	chr12	333649	333649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagcatcaccacagccCgcgggtaagcgatgaaagcc	12	3	13	13	3	1	1	1	1	0	0	1	2	1	1	3	2	4	3	3	2	2	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:333649C>T	ENST00000343164.4	-	10	1143	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.R272Q	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	364					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCACAGCCCGCGGGTAAGC	0.617																																						uc001qic.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1090-1092)cGg>cAg		Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.							110	97	101					12																	333649		2203	4299	6502	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333649C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1091G>A	12.37:g.333649C>T	ENSP00000339260:p.Arg364Gln					SLC6A13_uc009zdj.2_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.2_Missense_Mutation_p.R272Q	p.R364Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		9	1181	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		364					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1091G>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804842	0.50315	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.74315	-0.83;-0.83	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	N	0.21324	0.655	0.37553	D	0.91875	P;P;P	0.43788	0.817;0.631;0.631	P;B;B	0.45681	0.49;0.171;0.354	T	0.66677	-0.5863	10	0.33141	T	0.24	.	10.5823	0.45263	0.0:0.8534:0.0:0.1466	.	272;343;364	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	Q	272;343;364	ENSP00000407104:R272Q;ENSP00000339260:R364Q	ENSP00000318097:R343Q	R	-	2	0	SLC6A13	203910	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.909000	0.56363	1.381000	0.46364	0.448000	0.29417	CGG		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		T	333649	C	T	333649	3	4	38	1	0	0	0	0	1	0	0	0	14676	652	23	2	741	2	SLC6A13	12	333649	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		333649	133518246	59	2385											
TMTC1	83857	broad.mit.edu	37	chr12	29786150	29786150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatggtggctaagttcCgcatgtcccatatggtctct	9	12	11	9	1	1	1	0	0	1	1	4	2	3	1	2	3	0	3	2	3	3	3	rs375595309		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:29786150C>T	ENST00000539277.1	-	6	1116	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	TMTC1_ENST00000551659.1_Missense_Mutation_p.R415Q|TMTC1_ENST00000256062.5_Missense_Mutation_p.R245Q|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R415Q|TMTC1_ENST00000381224.2_Missense_Mutation_p.R307Q	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	353						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGCTAAGTTCCGCATGTCCCA	0.498																																						uc021qwi.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1057-1059)cGg>cAg		Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	1,4405		0,1,2202	125	112	116		1058,734	5.5	1	12		116	0,8600		0,0,4300	no	missense,missense	TMTC1	NM_001193451.1,NM_175861.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	353/883,245/775	29786150	1,13005	2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29786150C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1058G>A	12.37:g.29786150C>T	ENSP00000442046:p.Arg353Gln					TMTC1_uc001riz.3_Missense_Mutation_p.R2Q|TMTC1_uc001rja.3_Missense_Mutation_p.R89Q|TMTC1_uc001rjb.3_Missense_Mutation_p.R245Q|TMTC1_uc001rjc.1_Missense_Mutation_p.R307Q	p.R353Q	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN			5	1117	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		353					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1058G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	35	5.523712	0.96431	2.27E-4	0.0	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.53	5.53	0.82687	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.86502	2.82	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82234	-0.0558	9	.	.	.	-29.6752	18.03	0.89281	0.0:1.0:0.0:0.0	.	307;353;415	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	Q	116;245;415;415;353;307	ENSP00000256062:R245Q;ENSP00000448112:R415Q;ENSP00000449043:R415Q;ENSP00000442046:R353Q;ENSP00000370622:R307Q	.	R	-	2	0	TMTC1	29677417	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	6.989000	0.76219	2.582000	0.87167	0.655000	0.94253	CGG		0.498	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		T	29786150	C	T	29786150	3	4	38	1	0	0	0	0	1	0	0	0	16257	652	23	2	1642	2	TMTC1	12	29786150	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	29452501	29786150	104065745	60	2386											
ARHGAP9	64333	broad.mit.edu	37	chr12	57872982	57872982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgggtcgagaggtggaggGagcttctaggcgtcttgcca	7	9	18	7	2	2	1	0	0	2	1	3	5	2	3	1	5	2	1	1	5	1	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:57872982G>A	ENST00000356411.2	-	2	346	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P70S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P149S|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P141S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P70S|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGGTGGAGGGAGCTTCTAGG	0.567																																						uc001sod.3																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(421-423)Ccc>Tcc		Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.							154	129	137					12																	57872982		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872982G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.208C>T	12.37:g.57872982G>A	ENSP00000348782:p.Pro70Ser					ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	p.P141S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		4	614	-			70					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.421C>T		.	.	.	.	.	.	.	.	.	.	G	17.84	3.487117	0.63962	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.25414	3.15;3.14;1.8;3.06	4.97	4.07	0.47477	Src homology-3 domain (3);	0.162807	0.41396	N	0.000893	T	0.20047	0.0482	N	0.01576	-0.805	0.29267	N	0.870937	D;P;D;P;P	0.89917	1.0;0.896;1.0;0.873;0.896	D;P;D;B;P	0.91635	0.999;0.669;0.999;0.441;0.576	T	0.07597	-1.0764	10	0.40728	T	0.16	.	8.615	0.33826	0.1046:0.0:0.8954:0.0	.	70;149;70;70;70	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	S	70;70;70;141;119	ENSP00000377380:P70S;ENSP00000348782:P70S;ENSP00000394307:P70S;ENSP00000377386:P141S	ENSP00000344852:P119S	P	-	1	0	ARHGAP9	56159249	0.997000	0.39634	0.995000	0.50966	0.978000	0.69477	0.959000	0.29240	2.460000	0.83146	0.655000	0.94253	CCC		0.567	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		A	57872982	G	A	57872982	3	1	38	1	0	0	0	0	1	0	0	0	889	1174	41	3	2055	3	ARHGAP9	12	57872982	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	28086832	57872982	75978913	61	2387											
NTN4	59277	broad.mit.edu	37	chr12	96180812	96180812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaaatgtagcggagcAgttagtcgcaaagtacttat	13	9	11	8	2	0	0	0	0	0	0	1	1	0	1	1	2	3	5	1	2	6	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:96180812A>G	ENST00000343702.4	-	2	938	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	NTN4_ENST00000553059.1_Missense_Mutation_p.C164R|NTN4_ENST00000538383.1_Missense_Mutation_p.C127R|NTN4_ENST00000344911.4_Missense_Mutation_p.C127R	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	164	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGCGGAGCAGTTAGTCGCA	0.493																																						uc001tei.3																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(490-492)Tgc>Cgc		Homo sapiens netrin 4 (NTN4), mRNA.							106	100	102					12																	96180812		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180812A>G	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.490T>C	12.37:g.96180812A>G	ENSP00000340998:p.Cys164Arg					NTN4_uc009ztf.3_Missense_Mutation_p.C164R|NTN4_uc009ztg.3_Missense_Mutation_p.C127R	p.C164R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			1	939	-			164			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.490T>C	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813349	0.70912	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	5.62	5.62	0.85841	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97323	0.9945	10	0.87932	D	0	.	15.8259	0.78706	1.0:0.0:0.0:0.0	.	164;164	Q9HB63-2;Q9HB63	.;NET4_HUMAN	R	164;127;127;164;127	ENSP00000340998:C164R;ENSP00000339436:C127R;ENSP00000444432:C127R;ENSP00000447292:C164R;ENSP00000447594:C127R	ENSP00000340998:C164R	C	-	1	0	NTN4	94704943	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.730000	0.91510	2.141000	0.66446	0.454000	0.30748	TGC		0.493	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		G	96180812	A	G	96180812	3	3	38	1	0	0	0	0	1	0	0	0	10702	188	7	4	1432	4	NTN4	12	96180812	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	38307830	96180812	37671083	62	2388											
UNC119B	84747	broad.mit.edu	37	chr12	121154526	121154526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcatttctccgcctcCggacagtcggggctacgtga	6	8	12	15	5	1	1	0	1	1	0	4	2	2	2	4	4	1	2	4	4	1	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:121154526C>T	ENST00000344651.4	+	3	494	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	152					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCGCCTCCGGACAGTCGG	0.532																																						uc001tyz.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(454-456)Cgg>Tgg		Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.							195	182	186					12																	121154526		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121154526C>T		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog B (Chlamydomonas)"		"unc119 (C.elegans) homolog B"				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.454C>T	12.37:g.121154526C>T	ENSP00000344942:p.Arg152Trp						p.R152W	NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN			2	901	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		152						Missense_Mutation	SNP	ENST00000344651.4	37	c.454C>T	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717849	0.89205	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	4.9	0.64082	Immunoglobulin E-set (1);	0.138471	0.46442	D	0.000289	D	0.83266	0.5217	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.86553	0.1836	9	0.87932	D	0	-9.5151	16.0406	0.80679	0.1352:0.8648:0.0:0.0	.	152	A6NIH7	U119B_HUMAN	W	152	.	ENSP00000344942:R152W	R	+	1	2	UNC119B	119638909	0.979000	0.34478	1.000000	0.80357	0.985000	0.73830	2.513000	0.45494	1.400000	0.46741	0.655000	0.94253	CGG		0.532	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		T	121154526	C	T	121154526	3	4	38	1	0	0	0	0	1	0	0	0	16980	643	23	2	464	2	UNC119B	12	121154526	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	24973714	121154526	12697369	63	2389											
KBTBD6	89890	broad.mit.edu	37	chr13	41705381	41705381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccatgccctcacgacacaGcaagcgatctgcaagttgct	11	8	8	14	2	2	0	1	0	1	0	3	2	3	0	2	0	5	4	2	0	2	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr13:41705381G>A	ENST00000379485.1	-	1	1501	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	KBTBD6_ENST00000499385.2_Silent_p.L357L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	423										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCACGACACAGCAAGCGATCT	0.493																																						uc001uxu.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1267-1269)Ctg>Ttg		Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.							113	108	110					13																	41705381		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41705381G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1267C>T	13.37:g.41705381G>A						AK056182_uc001uxv.1_5'Flank	p.L423L	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	0	1556	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	423					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.1267C>T	CCDS9376.1																																																																																				0.493	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		A	41705381	G	A	41705381	2	1	38	1	0	0	0	0	0	0	0	1	7997	962	34	3		3	KBTBD6	13	41705381	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08		41705381	73464497	64	2390											
C15orf52	388115	broad.mit.edu	37	chr15	40630791	40630791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggggcttcgggtcacaCgccctccaggtgacccctct	4	8	14	15	2	2	1	1	1	1	0	4	1	3	1	4	5	0	1	4	5	0	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:40630791C>T	ENST00000559313.1	-	5	605	c.590G>A	c.(589-591)cGt>cAt	p.R197H	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	197							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCGGGTCACACGCCCTCCAGG	0.577											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zlh.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(589-591)cGt>cAt		Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.							111	122	118					15																	40630791		2043	4182	6225	SO:0001583	missense	388115							g.chr15:40630791C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.590G>A	15.37:g.40630791C>T	ENSP00000453969:p.Arg197His		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	C15orf52_uc001zli.1_Missense_Mutation_p.R129H|C15orf52_uc010ucn.2_5'Flank	p.R197H	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	4	606	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	197					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.590G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471495	0.43942	.	.	ENSG00000188549	ENST00000382688;ENST00000397535	.	.	.	4.16	2.22	0.28083	.	0.799142	0.10816	N	0.630946	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999992	D;P	0.62365	0.991;0.923	P;B	0.48982	0.597;0.276	T	0.08106	-1.0738	9	0.25751	T	0.34	-1.4205	5.457	0.16596	0.0:0.6834:0.2045:0.1121	.	129;197	Q6ZUT6-3;Q6ZUT6	.;CO052_HUMAN	H	197;129	.	ENSP00000372135:R197H	R	-	2	0	C15orf52	38418083	0.000000	0.05858	0.119000	0.21687	0.035000	0.12851	-0.178000	0.09782	0.385000	0.24970	-0.253000	0.11424	CGT		0.577	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		T	40630791	C	T	40630791	3	4	38	1	0	0	0	0	1	0	0	0	1800	536	19	1	1042	1	C15orf52	15	40630791	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		40630791	61900601	65	2391											
TP53BP1	7158	broad.mit.edu	37	chr15	43773221	43773221	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacattcccagaacaCtacacagcagaaggatataa	17	6	6	12	0	0	3	0	1	0	2	1	4	1	4	2	1	3	1	2	1	5	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:43773221C>G	ENST00000263801.3	-	5	609		c.e5-1		TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382039.3_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCCAGAACACTACACAGCAG	0.458								Other conserved DNA damage response genes																														uc001zrs.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.e5-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.							183	148	160					15																	43773221		2201	4298	6499	SO:0001630	splice_region_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43773221C>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.357-1G>C	15.37:g.43773221C>G						TP53BP1_uc010udp.2_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.4_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.4_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	p.S119_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	5	505	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	119					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Splice_Site	SNP	ENST00000263801.3	37	c.357_splice	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819935	0.50633	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7505	0.62904	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53BP1	41560513	1.000000	0.71417	0.996000	0.52242	0.598000	0.36846	3.303000	0.51858	2.706000	0.92434	0.467000	0.42956	.		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		Intron	G	43773221	C	G	43773221	5	3	38	1	0	0	0	0	0	0	1	0	16380	579	20	5	5658	5	TP53BP1	15	43773221	Splice_Site	SNP	C	TCGA-06-0185-01A-01W-0254-08	3142430	43773221	58758171	66	2392											
GCOM1	81488	broad.mit.edu	37	chr15	58006757	58006757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagcaaagctcgcagcGcaaaaattagctgaaagact	17	6	9	9	2	0	2	0	1	0	1	1	2	0	2	0	0	5	6	0	0	6	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:58006757G>A	ENST00000299638.3	+	4	1201	c.987G>A	c.(985-987)gcG>gcA	p.A329A	GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Silent_p.A172A|GCOM1_ENST00000587652.1_Silent_p.A726A|GCOM1_ENST00000380568.3_Missense_Mutation_p.R443H|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380569.2_Silent_p.A511A	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	329					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)	p.A329A(1)|p.A511A(1)									AGCTCGCAGCGCAAAAATTAG	0.398																																						uc002aeo.3																			2	Substitution - coding silent(2)	p.A329A(1)|p.A511A(1)	kidney(2)	endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(1327-1329)cGc>cAc		Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 2, mRNA.							84	90	88					15																	58006757		2192	4292	6484	SO:0001819	synonymous_variant	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:58006757G>A	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.987G>A	15.37:g.58006757G>A						GCOM1_uc002aem.3_Silent_p.A511A|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aes.3_Silent_p.A98A|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Silent_p.A329A|GCOM1_uc002aeu.4_Silent_p.A172A	p.R443H	NM_001018091	NP_001018101	P0CAP1	GCOM1_HUMAN			12	1459	+			51					Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	c.1328G>A	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409690	0.25465	.	.	ENSG00000137878	ENST00000380568	T	0.24151	1.87	5.65	3.33	0.38152	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04481	-1.0948	8	0.39692	T	0.17	-6.9896	7.2821	0.26318	0.7695:0.1398:0.0907:0.0	.	443	P0CAP1-2	.	H	443	ENSP00000369942:R443H	ENSP00000369942:R443H	R	+	2	0	GCOM1	55794049	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	0.286000	0.18902	0.505000	0.28104	-0.140000	0.14226	CGC		0.398	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			A	58006757	G	A	58006757	2	1	38	1	0	0	0	0	0	0	0	1	6304	1087	38	1		1	GCOM1	15	58006757	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	14233536	58006757	44524635	67	2393											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140535	3140535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggcgcaaggctctccCggcaccccaggactatctgc	7	6	12	16	2	2	0	0	0	2	0	3	2	2	1	3	4	1	3	3	4	2	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:3140535C>T	ENST00000252463.2	-	5	822	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602																																						uc002ctv.1																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(733-735)ccG>ccA		Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.							41	46	44					16																	3140535		2196	4296	6492	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140535C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.735G>A	16.37:g.3140535C>T						ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	p.P245P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			4	823	-			245					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.735G>A	CCDS10493.1																																																																																				0.602	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		T	3140535	C	T	3140535	2	4	38	1	0	0	0	0	0	0	0	1	18224	639	23	2		2	ZSCAN10	16	3140535	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		3140535	87214218	68	2394											
MYH11	4629	broad.mit.edu	37	chr16	15818586	15818586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcttgcaggctgttcCgctcctcctccagctggcgc	2	11	12	16	2	1	0	0	0	1	0	5	0	5	0	4	3	2	6	4	3	0	2	rs150883363	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:15818586C>T	ENST00000300036.5	-	30	4143	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000452625.2_Missense_Mutation_p.R1352Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1352Q|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000576790.2_Missense_Mutation_p.R1345Q|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000342673.5_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1345					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGCTGTTCCGCTCCTCCTC	0.597			T	CBFB	AML								C|||	2	0.000399361	8e-04	0	5008	,	,		19712	0.001		0	False		,,,				2504	0					uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4054-4056)cGg>cAg		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.		C	GLN/ARG,GLN/ARG,,GLN/ARG,,GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	156	147	150		4055,4055,,4034,,4034	3.3	1	16	dbSNP_134	150	0,8600		0,0,4300	no	missense,missense,utr-3,missense,utr-3,missense	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	43,43,,43,,43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,,benign,,benign	1352/1946,1352/1980,,1345/1973,,1345/1939	15818586	1,12993	2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15818586C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4034G>A	16.37:g.15818586C>T	ENSP00000300036:p.Arg1345Gln					MYH11_uc002ddv.3_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1345Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1345Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_Non-coding_Transcript	p.R1352Q	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			30	4162	-			1345					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4055G>A	CCDS10565.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.69	2.612185	0.46631	2.28E-4	0.0	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.27	3.32	0.38043	Myosin tail (1);	0.241384	0.38663	N	0.001618	T	0.70902	0.3277	L	0.28192	0.835	0.40720	D	0.982655	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.003;0.003	B;B;B;B;B	0.24541	0.017;0.003;0.003;0.009;0.054	T	0.64041	-0.6500	10	0.30078	T	0.28	.	8.1712	0.31256	0.0:0.7524:0.0:0.2476	.	1352;1345;1352;1345;1352	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1345;1345;1352;1352;1352	ENSP00000300036:R1345Q;ENSP00000345136:R1345Q;ENSP00000379616:R1352Q;ENSP00000407821:R1352Q	ENSP00000300036:R1345Q	R	-	2	0	MYH11	15726087	0.994000	0.37717	1.000000	0.80357	0.952000	0.60782	1.505000	0.35736	1.225000	0.43566	0.655000	0.94253	CGG		0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		T	15818586	C	T	15818586	3	4	38	1	0	0	0	0	1	0	0	0	10031	652	23	2	1967	2	MYH11	16	15818586	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12678051	15818586	74536167	69	2395											
PRKCB	5579	broad.mit.edu	37	chr16	24231309	24231309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagagacacctccaacttcGacaaagagttcaccagacag	16	5	8	12	1	1	4	1	0	0	4	3	6	2	4	3	0	1	1	3	0	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:24231309G>A	ENST00000321728.7	+	17	2066	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	631	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTCCAACTTCGACAAAGAGTT	0.433																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1891-1893)Gac>Aac		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						103	95	98					16																	24231309		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24231309G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1891G>A	16.37:g.24231309G>A	ENSP00000318315:p.Asp631Asn					PRKCB_uc002dme.3_3'UTR	p.D631N	NM_212535	NP_997700	P05771	KPCB_HUMAN			16	2088	+			631			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1891G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118217	0.94385	.	.	ENSG00000166501	ENST00000321728	D	0.84800	-1.9	5.9	5.9	0.94986	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.	.	.	.	D	0.96244	0.8775	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97628	1.0140	9	0.87932	D	0	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	631	P05771	KPCB_HUMAN	N	631	ENSP00000318315:D631N	ENSP00000318315:D631N	D	+	1	0	PRKCB	24138810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.467000	0.97671	2.798000	0.96311	0.650000	0.86243	GAC		0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	24231309	G	A	24231309	3	1	38	1	0	0	0	0	1	0	0	0	12508	1058	37	2	2120	2	PRKCB	16	24231309	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	8412723	24231309	66123444	70	2396											
CHD9	80205	broad.mit.edu	37	chr16	53337775	53337775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacgcttgaagctttgccatCcaaatccagatttaccagtc	12	11	6	12	1	0	2	0	1	0	1	3	2	2	2	4	0	4	2	4	0	4	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:53337775C>T	ENST00000398510.3	+	30	5944	c.5857C>T	c.(5857-5859)Cca>Tca	p.P1953S	CHD9_ENST00000564845.1_Missense_Mutation_p.P1953S|CHD9_ENST00000566029.1_Missense_Mutation_p.P1953S|CHD9_ENST00000447540.1_Missense_Mutation_p.P1953S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1953					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTGCCATCCAAATCCAGA	0.478																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5857-5859)Cca>Tca		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							84	83	83					16																	53337775		1944	4146	6090	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53337775C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5857C>T	16.37:g.53337775C>T	ENSP00000381522:p.Pro1953Ser					CHD9_uc002egy.3_Missense_Mutation_p.P1953S|CHD9_uc002ehc.3_Missense_Mutation_p.P1953S|CHD9_uc002ehf.3_Missense_Mutation_p.P1067S|CHD9_uc002ehg.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.3_Intron	p.P1953S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			29	6021	+		all_cancers(37;0.0212)	1953					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5857C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.960196	0.74016	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.87412	-2.25;-2.25	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000009	D	0.92896	0.7740	M	0.72894	2.215	0.52501	D	0.999957	P;D;D	0.67145	0.562;0.993;0.996	P;P;P	0.62298	0.544;0.796;0.9	D	0.92406	0.5933	10	0.72032	D	0.01	-16.1639	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1953;1953;1953	Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;CHD9_HUMAN;.	S	1953	ENSP00000396345:P1953S;ENSP00000381522:P1953S	ENSP00000381522:P1953S	P	+	1	0	CHD9	51895276	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.916000	0.56416	2.937000	0.99478	0.650000	0.86243	CCA		0.478	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		T	53337775	C	T	53337775	3	4	38	1	0	0	0	0	1	0	0	0	3332	855	30	3	5975	3	CHD9	16	53337775	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	29106466	53337775	37016978	71	2397											
ASGR2	433	broad.mit.edu	37	chr17	7005462	7005462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttccaagagccatcactGtccgtgagacctatccaggt	10	10	8	13	1	1	2	1	1	0	2	4	3	4	2	5	1	1	0	5	1	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:7005462G>T	ENST00000380952.2	-	8	981	c.717C>A	c.(715-717)gaC>gaA	p.D239E	ASGR2_ENST00000254850.7_Missense_Mutation_p.D215E|ASGR2_ENST00000355035.5_Missense_Mutation_p.D239E|ASGR2_ENST00000446679.2_Missense_Mutation_p.D220E	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	239	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCCATCACTGTCCGTGAGAC	0.458																																						uc002gep.3																			0		p.T238>?(1)|p.T238T(1)|p.T238A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(715-717)gaC>gaA		Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)						371	350	357					17																	7005462		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7005462G>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.717C>A	17.37:g.7005462G>T	ENSP00000370339:p.Asp239Glu					ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.2_Missense_Mutation_p.D234E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E	p.D239E	NM_001181	NP_550434	P07307	ASGR2_HUMAN			7	984	-			239			C-type lectin.		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.717C>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597379	0.28445	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.41	1.12	0.20585	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.619232	0.14205	N	0.334414	T	0.33933	0.0880	M	0.87547	2.89	0.09310	N	1	B;B;B;B;B	0.23058	0.001;0.036;0.079;0.029;0.036	B;B;B;B;B	0.37144	0.003;0.111;0.149;0.096;0.242	T	0.42565	-0.9444	10	0.66056	D	0.02	.	7.8569	0.29487	0.0:0.4182:0.4157:0.1662	.	215;239;234;220;239	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	E	239;215;239;220	ENSP00000347140:D239E;ENSP00000254850:D215E;ENSP00000370339:D239E;ENSP00000405844:D220E	ENSP00000254850:D215E	D	-	3	2	ASGR2	6946186	0.002000	0.14202	0.015000	0.15790	0.783000	0.44284	0.126000	0.15769	0.297000	0.22615	0.650000	0.86243	GAC		0.458	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		T	7005462	G	T	7005462	3	4	38	1	0	0	0	0	1	0	0	0	1040	1368	48	5	226	5	ASGR2	17	7005462	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		7005462	74189748	72	2398											
KIF19	124602	broad.mit.edu	37	chr17	72346919	72346919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagtgctacgctaaggacGacagcgagaaggactcagac	14	4	14	9	3	1	2	1	0	0	2	1	7	1	5	0	3	3	2	0	3	3	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:72346919G>A	ENST00000389916.4	+	12	1600	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	AC103809.2_ENST00000599136.1_Missense_Mutation_p.S131L	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	488					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGCTAAGGACGACAGCGAGAA	0.637																																						uc002jkm.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1462-1464)Gac>Aac		Homo sapiens kinesin family member 19 (KIF19), mRNA.							125	113	117					17																	72346919		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346919G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1462G>A	17.37:g.72346919G>A	ENSP00000374566:p.Asp488Asn					KIF19_uc002jkj.2_Missense_Mutation_p.D488N|KIF19_uc002jkk.2_Missense_Mutation_p.D446N|KIF19_uc002jkl.2_Missense_Mutation_p.D446N	p.D488N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			11	1600	+			488					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1462G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	g	14.36	2.512353	0.44660	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74002	-0.8;-0.52	5.36	5.36	0.76844	.	.	.	.	.	T	0.67420	0.2891	L	0.54323	1.7	0.52099	D	0.999941	B;P;P;P	0.40681	0.193;0.727;0.6;0.6	B;B;B;B	0.29862	0.068;0.099;0.108;0.108	T	0.70128	-0.4957	9	0.37606	T	0.19	.	17.9209	0.88965	0.0:0.0:1.0:0.0	.	488;446;446;488	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	N	446;488	ENSP00000449134:D446N;ENSP00000374566:D488N	ENSP00000374566:D488N	D	+	1	0	KIF19	69858514	1.000000	0.71417	0.161000	0.22692	0.036000	0.12997	8.418000	0.90250	2.527000	0.85204	0.455000	0.32223	GAC		0.637	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72346919	G	A	72346919	3	1	38	1	0	0	0	0	1	0	0	0	8282	1058	37	2	1508	2	KIF19	17	72346919	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	65341457	72346919	8848291	73	2399											
DSG3	1830	broad.mit.edu	37	chr18	29056162	29056162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaacctagctggcccaaCgcagctacgagggtcacata	11	6	11	13	2	1	0	1	0	0	0	1	1	1	0	2	3	5	4	2	3	5	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:29056162C>T	ENST00000257189.4	+	16	3022	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	980					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGGCCCAACGCAGCTACGA	0.488																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2938-2940)aCg>aTg		Homo sapiens desmoglein 3 (DSG3), mRNA.							132	124	127					18																	29056162		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29056162C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2939C>T	18.37:g.29056162C>T	ENSP00000257189:p.Thr980Met					DSG3_uc002kwt.3_Missense_Mutation_p.T262M	p.T980M	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	3048	+			980					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2939C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	3.555	-0.090956	0.07053	.	.	ENSG00000134757	ENST00000257189	T	0.76709	-1.04	5.44	1.73	0.24493	.	1.113030	0.06905	N	0.806642	T	0.59715	0.2214	N	0.12746	0.255	0.09310	N	1	B	0.25743	0.133	B	0.13407	0.009	T	0.42682	-0.9437	10	0.28530	T	0.3	.	8.5255	0.33302	0.0:0.5404:0.0:0.4596	.	980	P32926	DSG3_HUMAN	M	980	ENSP00000257189:T980M	ENSP00000257189:T980M	T	+	2	0	DSG3	27310160	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	0.360000	0.20250	0.109000	0.17891	0.591000	0.81541	ACG		0.488	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29056162	C	T	29056162	3	4	38	1	0	0	0	0	1	0	0	0	4778	536	19	1	3001	1	DSG3	18	29056162	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		29056162	49021086	74	2400											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567452	45567452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggggaagggaatgccAatgagctcatcaatgtcatt	11	11	13	6	0	3	1	3	1	0	0	3	3	3	3	1	4	2	2	1	4	4	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:45567452A>G	ENST00000588982.1	-	3	528	c.27T>C	c.(25-27)atT>atC	p.I9I	ZBTB7C_ENST00000535628.2_Silent_p.I9I|ZBTB7C_ENST00000586438.1_Silent_p.I9I|ZBTB7C_ENST00000332053.2_Silent_p.I9I|ZBTB7C_ENST00000590800.1_Silent_p.I9I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	9							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGGAATGCCAATGAGCTCAT	0.582																																						uc010dnv.3																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(91-93)atT>atC		Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.							80	74	76					18																	45567452		2203	4300	6503	SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567452A>G	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.27T>C	18.37:g.45567452A>G						ZBTB7C_uc002ldb.3_Silent_p.I9I|ZBTB7C_uc010dnu.3_Silent_p.I18I|ZBTB7C_uc010dnw.3_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I	p.I31I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			2	529	-			9					O73453	Silent	SNP	ENST00000588982.1	37	c.93T>C	CCDS32830.1																																																																																				0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		G	45567452	A	G	45567452	2	3	38	1	0	0	0	0	0	0	0	1	17552	126	5	4		4	ZBTB7C	18	45567452	Silent	SNP	A	TCGA-06-0185-01A-01W-0254-08	16511290	45567452	32509796	75	2401											
CHAF1A	10036	broad.mit.edu	37	chr19	4409752	4409752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacctccacgcccctccGcagagtgagtatctcccatg	7	7	7	20	2	1	2	0	1	1	1	4	2	3	2	8	0	0	2	8	0	1	1	rs112018734		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:4409752G>A	ENST00000301280.5	+	3	1057	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	319					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCCTCCGCAGAGTGAGT	0.627								Chromatin Structure																														uc002mal.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(955-957)cGc>cAc	Chromatin Structure	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.		G	HIS/ARG	0,4406		0,0,2203	51	49	50		956	-5.2	0	19	dbSNP_132	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHAF1A	NM_005483.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	319/957	4409752	1,13005	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409752G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.956G>A	19.37:g.4409752G>A	ENSP00000301280:p.Arg319His						p.R319H	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1056	+		Hepatocellular(1079;0.137)	319					Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.956G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398935	0.42512	0.0	1.16E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.05513	3.43	5.78	-5.18	0.02840	.	.	.	.	.	T	0.03520	0.0101	N	0.15975	0.35	0.09310	N	0.999999	B	0.15719	0.014	B	0.06405	0.002	T	0.45323	-0.9269	9	0.87932	D	0	-1.1276	7.6318	0.28243	0.4888:0.0:0.4046:0.1065	.	319	Q13111	CAF1A_HUMAN	H	319	ENSP00000301280:R319H	ENSP00000301280:R319H	R	+	2	0	CHAF1A	4360752	0.014000	0.17966	0.003000	0.11579	0.050000	0.14768	0.073000	0.14640	-0.638000	0.05509	0.591000	0.81541	CGC		0.627	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		A	4409752	G	A	4409752	3	1	38	1	0	0	0	0	1	0	0	0	3311	1087	38	1	966	1	CHAF1A	19	4409752	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		4409752	54719231	76	2402											
PAPL	390928	broad.mit.edu	37	chr19	39589268	39589268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatacaccgagtcacgCttcgcaagctgctgccaggg	9	8	10	14	3	2	0	1	0	1	0	3	1	2	0	2	1	5	4	2	1	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:39589268C>T	ENST00000331256.5	+	3	566	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	PAPL_ENST00000594229.1_Missense_Mutation_p.L98F	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		98						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CCGAGTCACGCTTCGCAAGCT	0.647																																						uc002oki.3																			0											c.(292-294)Ctt>Ttt		Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.							31	31	31					19																	39589268		2203	4299	6502	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39589268C>T																												ENST00000331256.5:c.292C>T	19.37:g.39589268C>T	ENSP00000327557:p.Leu98Phe					PAPL_uc010egl.3_Missense_Mutation_p.L98F	p.L98F	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			2	566	+			98					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.292C>T	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925388	0.73213	.	.	ENSG00000183760	ENST00000331256	D	0.87729	-2.29	5.17	5.17	0.71159	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.94095	0.8107	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95015	0.8155	10	0.87932	D	0	-22.4241	16.1449	0.81559	0.0:1.0:0.0:0.0	.	98	Q6ZNF0	PAPL_HUMAN	F	98	ENSP00000327557:L98F	ENSP00000327557:L98F	L	+	1	0	AC011443.1	44281108	1.000000	0.71417	0.924000	0.36721	0.321000	0.28281	4.808000	0.62583	2.394000	0.81467	0.655000	0.94253	CTT		0.647	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			T	39589268	C	T	39589268	3	4	38	1	0	0	0	0	1	0	0	0	11427	797	28	3	298	3	PAPL	19	39589268	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	35179516	39589268	19539715	77	2403											
PSG9	5678	broad.mit.edu	37	chr19	43766068	43766068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcactgggttccgtattTcacattcatagggtcctgca	8	13	8	12	1	3	0	3	0	0	0	5	0	5	0	2	2	1	3	2	2	2	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:43766068T>C	ENST00000270077.3	-	3	749	c.653A>G	c.(652-654)gAa>gGa	p.E218G	PSG9_ENST00000244293.7_Missense_Mutation_p.E218G|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.E218G|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	218	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTCCGTATTTCACATTCATA	0.512																																						uc002owd.4																			0		p.E218K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(652-654)gAa>gGa		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							200	199	199					19																	43766068		2203	4298	6501	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766068T>C	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.653A>G	19.37:g.43766068T>C	ENSP00000270077:p.Glu218Gly					PSG9_uc002owe.4_Missense_Mutation_p.E218G|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G	p.E218G	NM_002784	NP_002775	Q00887	PSG9_HUMAN			2	752	-		Prostate(69;0.00682)	218			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.653A>G	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	13.22	2.171010	0.38315	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.13089	2.62;2.62	2.12	1.03	0.20045	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28699	0.0711	M	0.71871	2.18	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;0.999	T	0.02639	-1.1130	9	0.62326	D	0.03	.	4.1729	0.10337	0.0:0.204:0.0:0.796	.	218;218;218	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	G	218;179;218	ENSP00000270077:E218G;ENSP00000244293:E218G	ENSP00000244293:E218G	E	-	2	0	PSG9	48457908	0.007000	0.16637	0.251000	0.24312	0.051000	0.14879	0.007000	0.13174	-0.080000	0.12685	0.163000	0.16589	GAA		0.512	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		C	43766068	T	C	43766068	3	2	38	1	0	0	0	0	1	0	0	0	12662	1783	62	4	643	4	PSG9	19	43766068	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	4176800	43766068	15362915	78	2404											
NLRP5	126206	broad.mit.edu	37	chr19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcactgtccgtatttgCggaaaattcgggtggatgtc	8	12	12	9	3	0	0	0	0	0	0	4	2	2	2	2	3	2	2	2	3	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:56539799C>T	ENST00000390649.3	+	7	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2200-2202)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							148	148	148					19																	56539799		2011	4186	6197	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539799C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2200C>T	19.37:g.56539799C>T	ENSP00000375063:p.Arg734Trp					NLRP5_uc002qmi.3_Missense_Mutation_p.R715W	p.R734W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	2200	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	734					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2200C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134092	0.37630	.	.	ENSG00000171487	ENST00000390649	D	0.89681	-2.55	3.26	-0.548	0.11833	.	2.283940	0.02282	N	0.069451	D	0.86644	0.5982	M	0.65975	2.015	0.09310	N	1	P	0.40083	0.702	B	0.33121	0.158	T	0.75110	-0.3433	10	0.87932	D	0	.	8.5602	0.33505	0.6101:0.3899:0.0:0.0	.	734	P59047	NALP5_HUMAN	W	734	ENSP00000375063:R734W	ENSP00000375063:R734W	R	+	1	2	NLRP5	61231611	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.116000	0.10724	-0.001000	0.14495	0.561000	0.74099	CGG		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539799	C	T	56539799	3	4	38	1	0	0	0	0	1	0	0	0	10480	759	27	1	2226	1	NLRP5	19	56539799	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12773731	56539799	2589184	79	2405											
LBP	3929	broad.mit.edu	37	chr20	36989406	36989406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccgatctacagccttatCtccaaactctgccaggtagg	9	10	7	15	1	3	0	0	0	3	0	5	1	4	0	5	2	4	1	5	2	4	3	rs370114388		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:36989406C>T	ENST00000217407.2	+	6	798	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	213					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.L213I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACAGCCTTATCTCCAAACTCT	0.418																																						uc002xic.1																			1	Substitution - Missense(1)	p.L213I(2)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(637-639)Ctc>Ttc		Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.		C	PHE/LEU	0,4406		0,0,2203	171	169	169		637	5.3	1	20		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	LBP	NM_004139.2	22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	213/482	36989406	1,13005	2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36989406C>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.637C>T	20.37:g.36989406C>T	ENSP00000217407:p.Leu213Phe						p.L213F	NM_004139	NP_004130	P18428	LBP_HUMAN			5	672	+		Myeloproliferative disorder(115;0.00878)	213					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.637C>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868789	0.72065	0.0	1.16E-4	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.13657	2.57	5.28	5.28	0.74379	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000011	T	0.34716	0.0907	M	0.74389	2.26	0.47819	D	0.999528	P	0.50617	0.937	P	0.59643	0.861	T	0.01192	-1.1423	10	0.45353	T	0.12	-35.8502	16.4665	0.84080	0.0:1.0:0.0:0.0	.	213	P18428	LBP_HUMAN	F	213	ENSP00000217407:L213F	ENSP00000217407:L213F	L	+	1	0	LBP	36422820	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.265000	0.58865	2.756000	0.94617	0.655000	0.94253	CTC		0.418	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		T	36989406	C	T	36989406	3	4	38	1	0	0	0	0	1	0	0	0	8651	913	32	3	659	3	LBP	20	36989406	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		36989406	26036114	80	2406											
SEMG1	6406	broad.mit.edu	37	chr20	43836503	43836503	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggtagaaaacaaggcGgatcccaaagcagttatgtt	18	7	10	6	1	0	1	0	0	0	1	1	2	1	2	1	3	2	4	1	3	8	3	rs113377758		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:43836503G>T	ENST00000372781.3	+	2	622	c.565G>T	c.(565-567)Gga>Tga	p.G189*	SEMG1_ENST00000244069.6_Nonsense_Mutation_p.G189*	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	189	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAAACAAGGCGGATCCCAAAG	0.388																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							82	77	79					20																	43836503		2203	4300	6503	SO:0001587	stop_gained	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836503G>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.565G>T	20.37:g.43836503G>T	ENSP00000361867:p.Gly189*					SEMG2_uc002xni.2_Nonsense_Mutation_p.G189*|SEMG2_uc002xnj.2_Nonsense_Mutation_p.G189*		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Nonsense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764553	0.31228	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	.	.	.	1.02	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	5.3802	0.16187	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000244069:G189X	G	+	1	0	SEMG1	43269917	0.002000	0.14202	0.005000	0.12908	0.008000	0.06430	-0.035000	0.12205	0.843000	0.35070	0.557000	0.71058	GGA		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		T	43836503	G	T	43836503	4	4	38	1	0	0	0	0	0	1	0	0	14044	1117	39	5	571	5	SEMG1	20	43836503	Nonsense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	6847097	43836503	19189017	81	2407											
ZNF831	128611	broad.mit.edu	37	chr20	57769723	57769723	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcctggtagcagcctcCgagatgagggtcccaatggc	8	9	12	12	1	0	2	0	1	0	1	3	3	3	2	4	3	2	2	4	3	2	2	rs376362684		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:57769723C>T	ENST00000371030.2	+	1	3649	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1217							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAGCAGCCTCCGAGATGAGGG	0.627																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3649-3651)Cga>Tga		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.		C	stop/ARG	0,4134		0,0,2067	26	30	29		3649	1.6	0	20		29	1,8403		0,1,4201	no	stop-gained	ZNF831	NM_178457.1		0,1,6268	TT,TC,CC		0.0119,0.0,0.0080		1217/1678	57769723	1,12537	2067	4202	6269	SO:0001587	stop_gained	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769723C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3649C>T	20.37:g.57769723C>T	ENSP00000360069:p.Arg1217*						p.R1217*	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	3649	+	all_lung(29;0.0085)		1217					Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	ENST00000371030.2	37	c.3649C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	40	8.139736	0.98672	0.0	1.19E-4	ENSG00000124203	ENST00000371030	.	.	.	5.05	1.64	0.23874	.	1.713730	0.03065	N	0.156382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	0.162	1.359	0.02188	0.1564:0.4071:0.2399:0.1967	.	.	.	.	X	1217	.	ENSP00000360069:R1217X	R	+	1	2	ZNF831	57203118	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-1.166000	0.03129	1.123000	0.41961	0.609000	0.83330	CGA		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57769723	C	T	57769723	4	4	38	1	0	0	0	0	0	1	0	0	18182	644	23	2	3651	2	ZNF831	20	57769723	Nonsense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	13933220	57769723	5255797	82	2408											
PKNOX1	5316	broad.mit.edu	37	chr21	44437070	44437070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggaattgtggtgcCggcgtccgcgctgcagcagg	5	7	16	13	4	1	0	1	0	0	0	2	1	2	1	3	4	3	3	3	4	1	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:44437070C>T	ENST00000291547.5	+	6	786	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P75L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	192					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ATTGTGGTGCCGGCGTCCGCG	0.502																																						uc002zcq.1																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(574-576)cCg>cTg		Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.							51	49	50					21																	44437070		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44437070C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.575C>T	21.37:g.44437070C>T	ENSP00000291547:p.Pro192Leu					PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.3_Missense_Mutation_p.P192L	p.P192L	NM_004571	NP_004562	P55347	PKNX1_HUMAN			5	763	+			192					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.575C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832281	0.71258	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86297	-1.84;-2.1	5.39	5.39	0.77823	.	0.107611	0.64402	D	0.000004	D	0.92218	0.7532	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.998;0.829;0.999	D	0.91078	0.4897	10	0.36615	T	0.2	-15.8831	17.3298	0.87259	0.0:1.0:0.0:0.0	.	192;192;192	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	192;75	ENSP00000291547:P192L;ENSP00000402243:P75L	ENSP00000291547:P192L	P	+	2	0	PKNOX1	43310139	0.998000	0.40836	0.886000	0.34754	0.072000	0.16883	3.951000	0.56684	2.506000	0.84524	0.655000	0.94253	CCG		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			T	44437070	C	T	44437070	3	4	38	1	0	0	0	0	1	0	0	0	11982	652	23	2	593	2	PKNOX1	21	44437070	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		44437070	3692825	83	2409											
C21orf56	84221	broad.mit.edu	37	chr21	47588353	47588353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgagtcttgcaaggggCtcaggagcggggacagcttc	8	7	16	10	1	2	1	1	1	1	0	3	3	2	3	1	5	3	3	1	5	1	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:47588353C>T	ENST00000291672.5	-	3	1474	c.413G>A	c.(412-414)aGc>aAc	p.S138N	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	138																	TTGCAAGGGGCTCAGGAGCGG	0.652																																						uc011afu.2																			0				kidney(1)|skin(1)	2						c.(412-414)aGc>aAc		Homo sapiens chromosome 21 open reading frame 56 (C21orf56), transcript variant 1, mRNA.							33	33	33					21																	47588353		2203	4300	6503	SO:0001583	missense	84221						protein binding	g.chr21:47588353C>T	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.413G>A	21.37:g.47588353C>T	ENSP00000291672:p.Ser138Asn					C21orf56_uc002zii.3_5'UTR	p.S138N	NM_001142854	NP_115637	Q9H0A9	CU056_HUMAN		Colorectal(79;0.241)	2	1475	-	Breast(49;0.214)		138					B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	c.413G>A	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678369	0.29783	.	.	ENSG00000160284	ENST00000291672	T	0.54279	0.58	5.21	3.39	0.38822	.	0.311164	0.27650	N	0.018429	T	0.34978	0.0916	N	0.19112	0.55	0.20196	N	0.999923	B	0.06786	0.001	B	0.09377	0.004	T	0.28522	-1.0041	10	0.66056	D	0.02	-9.638	8.1858	0.31337	0.0:0.8127:0.0:0.1873	.	138	Q9H0A9	CU056_HUMAN	N	138	ENSP00000291672:S138N	ENSP00000291672:S138N	S	-	2	0	C21orf56	46412781	0.098000	0.21812	0.925000	0.36789	0.774000	0.43823	0.471000	0.22100	0.588000	0.29660	0.467000	0.42956	AGC		0.652	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261		T	47588353	C	T	47588353	3	4	38	1	0	0	0	0	1	0	0	0	2127	797	28	3	621	3	C21orf56	21	47588353	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	3151283	47588353	541542	84	2410											
SLC45A1	50651	broad.mit.edu	37	chr1	8390537	8390537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcgacagcctcccgtcGcacacggccaccaacttctc	7	6	8	20	4	1	0	0	0	1	0	4	1	2	0	5	2	2	1	5	2	1	1	rs200823214		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:8390537G>A	ENST00000471889.1	+	5	1369	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.S362S|SLC45A1_ENST00000289877.8_Silent_p.S328S|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	328					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGTCGCACACGGCCA	0.697													G|||	1	0.000199681	0	0	5008	,	,		13084	0.001		0	False		,,,				2504	0					uc001apb.3																			0		p.P327P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(982-984)tcG>tcA		Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.							25	25	25					1																	8390537		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390537G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.984G>A	1.37:g.8390537G>A						SLC45A1_uc001apc.3_Silent_p.S26S	p.S328S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	3	984	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	328					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.984G>A	CCDS30577.1																																																																																				0.697	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			A	8390537	G	A	8390537	2	1	39	1	0	0	0	0	0	0	0	1	14640	1074	38	1		1	SLC45A1	1	8390537	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08		8390537	240860084	1	2411											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809465	18809465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggccggccccaccgggGgcagcaaggaccgcacggcc	6	1	18	16	4	0	0	0	0	0	0	0	1	0	1	6	7	1	3	6	7	1	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:18809465G>A	ENST00000400664.1	+	1	2042	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	664						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCGGGGGCAGCAAGGA	0.682																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1990-1992)Ggc>Agc		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							30	32	31					1																	18809465		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18809465G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1990G>A	1.37:g.18809465G>A	ENSP00000383505:p.Gly664Ser					KLHDC7A_uc009vpg.3_Missense_Mutation_p.G446S	p.G664S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	2042	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	664					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1990G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052158	0.75960	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.20332	2.08	4.68	4.68	0.58851	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.39633	1.23	0.49798	D	0.999825	P;P	0.51147	0.942;0.942	P;P	0.51918	0.684;0.684	T	0.01456	-1.1350	10	0.34782	T	0.22	.	16.1501	0.81611	0.0:0.0:1.0:0.0	.	601;664	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	S	664;601	ENSP00000383505:G664S	ENSP00000383505:G664S	G	+	1	0	KLHDC7A	18682052	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	4.093000	0.57714	2.123000	0.65237	0.561000	0.74099	GGC		0.682	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18809465	G	A	18809465	3	1	39	1	0	0	0	0	1	0	0	0	8360	1232	43	3	1992	3	KLHDC7A	1	18809465	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	10418928	18809465	230441156	2	2412											
FAM54B	56181	broad.mit.edu	37	chr1	26156090	26156090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcctcattccactctaCaacttcctttgtcattagtg	8	16	5	12	0	3	0	2	0	1	0	6	1	6	1	3	1	2	0	3	1	3	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:26156090C>T	ENST00000374301.3	+	6	850	c.542C>T	c.(541-543)aCa>aTa	p.T181I	MTFR1L_ENST00000374307.5_Missense_Mutation_p.T169I|MTFR1L_ENST00000524618.1_Missense_Mutation_p.T84I|MTFR1L_ENST00000374300.3_Missense_Mutation_p.T181I|MTFR1L_ENST00000474295.1_Intron|MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000466284.1_Intron|MTFR1L_ENST00000374303.2_Missense_Mutation_p.T181I|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000469815.1_3'UTR	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	181																	TTCCACTCTACAACTTCCTTT	0.478																																						uc010oet.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8						c.(640-642)aCa>aTa		Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.							253	224	233					1																	26156090		1898	4132	6030	SO:0001583	missense	56181							g.chr1:26156090C>T		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.542C>T	1.37:g.26156090C>T	ENSP00000363419:p.Thr181Ile					FAM54B_uc001bkq.4_Missense_Mutation_p.T181I|FAM54B_uc001bkr.4_Intron|FAM54B_uc009vrz.3_Missense_Mutation_p.T166I|FAM54B_uc001bks.4_Missense_Mutation_p.T181I|FAM54B_uc001bkt.4_Missense_Mutation_p.T181I|FAM54B_uc001bku.4_Intron|FAM54B_uc001bkv.4_Missense_Mutation_p.T84I	p.T214I			Q9H019	FA54B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)	5	775	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	181					A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.641C>T	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635980	0.67130	.	.	ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.17	6.17	0.99709	.	0.098771	0.64402	D	0.000001	T	0.47655	0.1457	L	0.43152	1.355	0.58432	D	0.999996	P;B;P	0.47034	0.889;0.343;0.713	P;B;B	0.46758	0.526;0.221;0.378	T	0.25257	-1.0137	10	0.45353	T	0.12	-0.8419	20.8794	0.99867	0.0:1.0:0.0:0.0	.	214;169;181	B4DRE5;Q9H019-3;Q9H019	.;.;FA54B_HUMAN	I	181;84;84;169;181;181	ENSP00000363421:T181I;ENSP00000432719:T84I;ENSP00000435193:T84I;ENSP00000363426:T169I;ENSP00000363419:T181I;ENSP00000363418:T181I	ENSP00000363418:T181I	T	+	2	0	FAM54B	26028677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.324000	0.59228	2.941000	0.99782	0.655000	0.94253	ACA		0.478	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		T	26156090	C	T	26156090	3	4	39	1	0	0	0	0	1	0	0	0	5583	478	17	3	560	3	FAM54B	1	26156090	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	7346625	26156090	223094531	3	2413											
CYB5RL	606495	broad.mit.edu	37	chr1	54653374	54653374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttggcagggctgatgggcGtataggctctctgaatttct	6	13	14	8	2	2	2	0	2	2	0	3	2	2	2	0	4	0	5	0	4	3	4	rs371181170		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:54653374G>A	ENST00000534324.1	-	3	385	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CYB5RL_ENST00000542737.1_Missense_Mutation_p.T129M|RP11-446E24.4_ENST00000311841.7_3'UTR|CYB5RL_ENST00000419823.2_Missense_Mutation_p.T129M|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000537208.1_Missense_Mutation_p.T129M|CYB5RL_ENST00000401046.3_De_novo_Start_OutOfFrame|CYB5RL_ENST00000287899.8_Missense_Mutation_p.T129M			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	129	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.						cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTGATGGGCGTATAGGCTCT	0.483																																						uc009vzo.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						c.(385-387)aCg>aTg		Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.		G	MET/THR	1,3967		0,1,1983	130	127	128		386	4.9	0.9	1		128	0,8326		0,0,4163	no	missense	CYB5RL	NM_001031672.2	81	0,1,6146	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging	129/316	54653374	1,12293	1984	4163	6147	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54653374G>A		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.386C>T	1.37:g.54653374G>A	ENSP00000434343:p.Thr129Met					CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_5'UTR|CYB5RL_uc001cwx.4_Non-coding_Transcript	p.T129M	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN			4	706	-			129			FAD-binding FR-type.		B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.386C>T	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108508	0.77096	2.52E-4	0.0	ENSG00000215883	ENST00000419823;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	4.87	4.87	0.63330	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	.	.	.	.	D	0.96876	0.8980	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98032	1.0377	9	0.87932	D	0	.	16.3761	0.83392	0.0:0.0:1.0:0.0	.	129	Q6IPT4	NB5R5_HUMAN	M	129	ENSP00000409075:T129M;ENSP00000434343:T129M;ENSP00000287899:T129M;ENSP00000438151:T129M;ENSP00000443797:T129M	ENSP00000287899:T129M	T	-	2	0	CYB5RL	54425962	1.000000	0.71417	0.944000	0.38274	0.990000	0.78478	6.560000	0.73950	2.533000	0.85409	0.650000	0.86243	ACG		0.483	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		A	54653374	G	A	54653374	3	1	39	1	0	0	0	0	1	0	0	0	4130	1145	40	1	577	1	CYB5RL	1	54653374	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	28497284	54653374	194597247	4	2414											
RYR2	6262	broad.mit.edu	37	chr1	237608770	237608770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccagcatgaagaatcaCgcacagcccgagttatccgg	12	6	10	13	3	1	2	1	1	0	1	3	4	3	2	3	1	2	3	3	1	3	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:237608770C>T	ENST00000366574.2	+	14	1557	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	RYR2_ENST00000542537.1_Missense_Mutation_p.R398C|RYR2_ENST00000360064.6_Missense_Mutation_p.R412C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	414			R -> L (in CPVT1). {ECO:0000269|PubMed:15466642}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGAATCACGCACAGCCCG	0.393																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	GRCh37	CM065449	RYR2	M		c.(1240-1242)Cgc>Tgc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							153	147	149					1																	237608770		1924	4138	6062	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608770C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1240C>T	1.37:g.237608770C>T	ENSP00000355533:p.Arg414Cys						p.R414C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1360	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	414		R -> L (in CPVT1).			Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1240C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156116	0.57259	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97041	-4.22;-4.19;-4.21	5.84	3.85	0.44370	.	0.000000	0.64402	D	0.000014	D	0.96914	0.8992	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	P	0.56278	0.795	D	0.97283	0.9919	10	0.87932	D	0	.	14.7074	0.69200	0.2642:0.7357:0.0:0.0	.	414	Q92736	RYR2_HUMAN	C	414;412;398	ENSP00000355533:R414C;ENSP00000353174:R412C;ENSP00000443798:R398C	ENSP00000353174:R412C	R	+	1	0	RYR2	235675393	1.000000	0.71417	0.970000	0.41538	0.023000	0.10783	4.703000	0.61824	1.444000	0.47605	-0.282000	0.10007	CGC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237608770	C	T	237608770	3	4	39	1	0	0	0	0	1	0	0	0	13769	536	19	1	1294	1	RYR2	1	237608770	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	182955396	237608770	11641851	5	2415											
SLC5A7	60482	broad.mit.edu	37	chr2	108626770	108626770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccatggccttgctgaCgaaaactgtgtatgggctct	10	10	11	10	1	1	1	0	1	1	0	1	2	1	1	2	2	4	3	2	2	4	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:108626770C>T	ENST00000264047.2	+	9	1472	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	SLC5A7_ENST00000540517.1_Missense_Mutation_p.T294M|SLC5A7_ENST00000409059.1_Missense_Mutation_p.T399M	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	399					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCCTTGCTGACGAAAACTGTG	0.463																																						uc002tdv.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1195-1197)aCg>aTg		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						234	183	200					2																	108626770		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626770C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1196C>T	2.37:g.108626770C>T	ENSP00000264047:p.Thr399Met					SLC5A7_uc010ywm.2_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.3_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.2_Missense_Mutation_p.T286M	p.T399M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			8	1472	+			399					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1196C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623240	0.66901	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88046	-2.33;-2.33;-2.33	5.95	5.08	0.68730	.	0.090921	0.85682	D	0.000000	D	0.87861	0.6284	L	0.43152	1.355	0.47009	D	0.999281	P	0.42871	0.792	P	0.50109	0.631	D	0.88455	0.3051	10	0.59425	D	0.04	-20.9052	15.2379	0.73447	0.0:0.933:0.0:0.067	.	399	Q9GZV3	SC5A7_HUMAN	M	399;294;399	ENSP00000387346:T399M;ENSP00000445351:T294M;ENSP00000264047:T399M	ENSP00000264047:T399M	T	+	2	0	SLC5A7	107993202	1.000000	0.71417	0.023000	0.16930	0.755000	0.42902	7.818000	0.86416	1.538000	0.49270	0.650000	0.86243	ACG		0.463	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			T	108626770	C	T	108626770	3	4	39	1	0	0	0	0	1	0	0	0	14670	536	19	1	1226	1	SLC5A7	2	108626770	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		108626770	134572603	6	2416											
LRP2	4036	broad.mit.edu	37	chr2	170007505	170007505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtttagccacctcaatgcGtttattcttgacatctgacc	10	14	6	11	1	3	2	1	2	2	0	3	2	3	2	3	0	2	2	3	0	4	6	rs570499038		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:170007505G>A	ENST00000263816.3	-	68	12778	c.12493C>T	c.(12493-12495)Cgc>Tgc	p.R4165C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4165					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R4165C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACCTCAATGCGTTTATTCTTG	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		21127	0		0	False		,,,				2504	0					uc002ues.3																			1	Substitution - Missense(1)	p.R4165C(2)	large_intestine(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12493-12495)Cgc>Tgc		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						180	159	166					2																	170007505		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170007505G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12493C>T	2.37:g.170007505G>A	ENSP00000263816:p.Arg4165Cys						p.R4165C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12706	-			4165					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12493C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369471	0.61624	.	.	ENSG00000081479	ENST00000263816	D	0.84370	-1.84	5.86	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.92270	0.7548	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93204	0.6594	10	0.72032	D	0.01	.	16.4444	0.83913	0.0:0.0:0.8676:0.1324	.	4165	P98164	LRP2_HUMAN	C	4165	ENSP00000263816:R4165C	ENSP00000263816:R4165C	R	-	1	0	LRP2	169715751	1.000000	0.71417	0.788000	0.31933	0.490000	0.33462	1.609000	0.36858	1.468000	0.48064	0.655000	0.94253	CGC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170007505	G	A	170007505	3	1	39	1	0	0	0	0	1	0	0	0	8956	1145	40	1	1522	1	LRP2	2	170007505	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	61380735	170007505	73191868	7	2417											
TTN	7273	broad.mit.edu	37	chr2	179498764	179498764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttgctgtttcaccttcTtttactgtttgatcttcaag	8	19	6	8	0	4	1	2	1	2	0	4	1	4	1	1	0	2	4	1	0	3	7			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:179498764T>C	ENST00000591111.1	-	181	37763	c.37539A>G	c.(37537-37539)aaA>aaG	p.K12513K	TTN_ENST00000359218.5_Silent_p.K5214K|TTN_ENST00000460472.2_Silent_p.K5089K|TTN_ENST00000589042.1_Silent_p.K14154K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.K11586K|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.K5281K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12513	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACCTTCTTTTACTGTTT	0.358																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34756-34758)aaA>aaG		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							132	124	126					2																	179498764		1866	4096	5962	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498764T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37539A>G	2.37:g.179498764T>C						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5281K|TTN_uc021vta.1_Silent_p.K5214K|TTN_uc021vtb.1_Silent_p.K5089K	p.K11586K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		179	34983	-			12513			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.34758A>G																																																																																					0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179498764	T	C	179498764	2	2	39	1	0	0	0	0	0	0	0	1	16732	1606	56	4		4	TTN	2	179498764	Silent	SNP	T	TCGA-06-0188-01A-01W-0254-08	9491259	179498764	63700609	8	2418											
DNAJC10	54431	broad.mit.edu	37	chr2	183584858	183584858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgaggataatcaaggtgGccagtatgaaagctggaact	14	9	12	6	0	1	2	1	2	0	0	1	4	1	4	1	4	2	2	1	4	5	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:183584858G>A	ENST00000264065.7	+	4	744	c.329G>A	c.(328-330)gGc>gAc	p.G110D	DNAJC10_ENST00000537515.1_Missense_Mutation_p.G110D|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	110					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCAAGGTGGCCAGTATGAA	0.308																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(328-330)gGc>gAc		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.							173	165	168					2																	183584858		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183584858G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.329G>A	2.37:g.183584858G>A	ENSP00000264065:p.Gly110Asp					DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_Non-coding_Transcript	p.G110D	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	744	+			110					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.329G>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149185	0.78001	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.74315	-0.83;-0.83	5.87	5.87	0.94306	Heat shock protein DnaJ, N-terminal (1);	0.106561	0.64402	D	0.000004	D	0.83445	0.5256	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.63283	0.737;0.913	T	0.83269	-0.0044	10	0.59425	D	0.04	.	20.1985	0.98248	0.0:0.0:1.0:0.0	.	110;110	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	D	110	ENSP00000264065:G110D;ENSP00000441560:G110D	ENSP00000264065:G110D	G	+	2	0	DNAJC10	183293103	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.729000	0.98795	2.767000	0.95098	0.563000	0.77884	GGC		0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		A	183584858	G	A	183584858	3	1	39	1	0	0	0	0	1	0	0	0	4629	1203	42	3	335	3	DNAJC10	2	183584858	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	4086094	183584858	59614515	9	2419											
TNS1	7145	broad.mit.edu	37	chr2	218712554	218712554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggttcccaacgaatGcccactggggatatagccag	10	7	12	12	1	1	0	1	0	0	0	2	2	2	1	3	4	3	1	3	4	4	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:218712554G>A	ENST00000171887.4	-	17	2763	c.2311C>T	c.(2311-2313)Cat>Tat	p.H771Y	TNS1_ENST00000430930.1_Missense_Mutation_p.H771Y|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.H771Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	771					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCAACGAATGCCCACTGGGG	0.607																																						uc002vgt.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2311-2313)Cat>Tat		Homo sapiens tensin 1 (TNS1), mRNA.							25	27	26					2																	218712554		2202	4300	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712554G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2311C>T	2.37:g.218712554G>A	ENSP00000171887:p.His771Tyr					TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	p.H771Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	16	2709	-		Renal(207;0.0483)|Lung NSC(271;0.213)	771					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2311C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	1.237	-0.622539	0.03636	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91124	-2.78;-2.78;-2.79	4.0	3.11	0.35812	.	0.904176	0.09671	N	0.771076	D	0.82742	0.5103	N	0.19112	0.55	0.09310	N	0.999998	B;B;B;B;B	0.29955	0.001;0.263;0.263;0.263;0.263	B;B;B;B;B	0.24974	0.001;0.057;0.057;0.04;0.057	T	0.64546	-0.6382	10	0.15499	T	0.54	.	13.8016	0.63204	0.0:0.1543:0.8457:0.0	.	771;825;771;771;771	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	Y	771	ENSP00000171887:H771Y;ENSP00000408724:H771Y;ENSP00000406016:H771Y	ENSP00000171887:H771Y	H	-	1	0	TNS1	218420799	0.998000	0.40836	0.460000	0.27093	0.245000	0.25701	3.506000	0.53364	0.855000	0.35359	0.462000	0.41574	CAT		0.607	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218712554	G	A	218712554	3	1	39	1	0	0	0	0	1	0	0	0	16340	1319	46	3	2964	3	TNS1	2	218712554	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	35127696	218712554	24486819	10	2420											
ABCB6	10058	broad.mit.edu	37	chr2	220080773	220080773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgatccgcagcacctccCctgtgcggcgccccaggtgc	4	5	12	20	5	0	0	0	0	0	0	2	1	2	0	7	2	3	2	7	2	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:220080773C>T	ENST00000265316.3	-	5	1416	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ABCB6_ENST00000439002.2_Missense_Mutation_p.G321E	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	367	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCCCCTGTGCGGCG	0.672																																						uc002vkc.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1099-1101)gGg>gAg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.							20	23	22					2																	220080773		2202	4299	6501	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220080773C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1100G>A	2.37:g.220080773C>T	ENSP00000265316:p.Gly367Glu					ABCB6_uc010fwe.2_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	p.G367E	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	2879	-		Renal(207;0.0474)	367			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1100G>A	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.464401|5.464401	0.96257|0.96257	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|D	0.97752|0.97772	-4.52;-4.52|-4.53	5.08|5.08	5.08|5.08	0.68730|0.68730	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99333|0.99333	0.9766|0.9766	H|H	0.98559|0.98559	4.265|4.265	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.98444|0.98444	1.0588|1.0588	10|8	0.87932|0.87932	D|D	0|0	-25.1013|-25.1013	19.0333|19.0333	0.92967|0.92967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	321;367|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	E|R	367;321|215	ENSP00000265316:G367E;ENSP00000394333:G321E|ENSP00000295750:G215R	ENSP00000265316:G367E|ENSP00000295750:G215R	G|G	-|-	2|1	0|0	ABCB6|ABCB6	219789017|219789017	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	7.471000|7.471000	0.80985|0.80985	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.672	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		T	220080773	C	T	220080773	3	4	39	1	0	0	0	0	1	0	0	0	45	623	22	3	1488	3	ABCB6	2	220080773	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	1368219	220080773	23118600	11	2421											
KDR	3791	broad.mit.edu	37	chr4	55976857	55976857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtaaccaaggtacttcGcagggattctgacacgctcc	9	9	12	11	2	1	1	0	1	1	0	3	2	2	2	2	3	2	4	2	3	3	4	rs151317075	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:55976857G>A	ENST00000263923.4	-	8	1350	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	352	Ig-like C2-type 4.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A352V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGTACTTCGCAGGGATTCT	0.413			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A|||	8	0.00159744	0.0061	0	5008	,	,		16151	0		0	False		,,,				2504	0					uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		1	Substitution - Missense(1)	p.A352V(2)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(1054-1056)gCg>gTg		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)	A	VAL/ALA	22,4382	814.8+/-416.2	0,22,2180	78	86	83		1055	4.5	1	4	dbSNP_134	83	0,8600		0,0,4300	yes	missense	KDR	NM_002253.2	64	0,22,6480	AA,AG,GG		0.0,0.4995,0.1692	benign	352/1357	55976857	22,12982	2202	4300	6502	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55976857G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1055C>T	4.37:g.55976857G>A	ENSP00000263923:p.Ala352Val	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.2_Missense_Mutation_p.A352V	p.A352V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1357	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		352			Ig-like C2-type 4.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1055C>T	CCDS3497.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	3.343	-0.134124	0.06711	0.004995	0.0	ENSG00000128052	ENST00000263923	T	0.78707	-1.2	5.65	4.49	0.54785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060061	0.64402	N	0.000003	T	0.45975	0.1369	N	0.01809	-0.71	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38735	-0.9647	10	0.02654	T	1	.	8.5333	0.33349	0.8492:0.0:0.1508:0.0	.	352;352	P35968-2;P35968	.;VGFR2_HUMAN	V	352	ENSP00000263923:A352V	ENSP00000263923:A352V	A	-	2	0	KDR	55671614	1.000000	0.71417	0.999000	0.59377	0.394000	0.30568	4.894000	0.63206	0.976000	0.38417	-0.360000	0.07572	GCG		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55976857	G	A	55976857	3	1	39	1	0	0	0	0	1	0	0	0	8139	1087	38	1	3107	1	KDR	4	55976857	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08		55976857	135177419	12	2422											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784698	68784698	+	Frame_Shift_Del	DEL	G	G	-																															ctgagatacccaccaccataGtaaagtgctccaaatcctgt																										TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:68784698delG	ENST00000334830.7	-	8	1700	c.954delC	c.(952-954)tacfs	p.Y319fs	TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.Y316fs|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.Y315fs|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	319	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CACCACCATAGTAAAGTGCTC	0.453																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(952-954)tacfs		Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.							141	140	140					4																	68784698		2203	4300	6503	SO:0001589	frameshift_variant	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784698delG	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.954delC	4.37:g.68784698delG	ENSP00000334611:p.Tyr319fs					LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	p.Y318fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			7	1075	-			318			Peptidase S1.		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	ENST00000334830.7	37	c.954delC	CCDS3519.1																																																																																				0.453	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		-	68784698	G	-	68784698	7	5	39	1	0	1	0	1	0	0	0	0	16236	1024	36	0	323	0	TMPRSS11A	4	68784698	Frame_Shift_Del	DEL	G	TCGA-06-0188-01A-01W-0254-08	12807841	68784698	122369578	13	2423											
UGT2B11	10720	broad.mit.edu	37	chr4	70079996	70079996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaaaacagcatctgcaaAaacgatgtcaaatcttgact	17	8	8	8	1	3	1	1	1	2	0	3	3	3	2	0	1	4	2	0	1	5	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70079996A>G	ENST00000446444.1	-	1	453	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	149					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATCTGCAAAAACGATGTCA	0.383																																						uc003heh.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(445-447)Ttt>Ctt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.							118	116	117					4																	70079996		2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079996A>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.445T>C	4.37:g.70079996A>G	ENSP00000387683:p.Phe149Leu					AK124272_uc003hei.1_Intron	p.F149L	NM_001073	NP_001064	O75310	UDB11_HUMAN			0	454	-			149					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.445T>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.387167	0.00202	.	.	ENSG00000213759	ENST00000446444	T	0.58358	0.34	1.96	1.05	0.20165	.	0.588497	0.14602	N	0.309552	T	0.14917	0.0360	N	0.01048	-1.04	0.23550	N	0.997433	B	0.02656	0.0	B	0.06405	0.002	T	0.30357	-0.9981	10	0.02654	T	1	.	3.1787	0.06577	0.1893:0.2804:0.5303:0.0	.	149	O75310	UDB11_HUMAN	L	149	ENSP00000387683:F149L	ENSP00000387683:F149L	F	-	1	0	UGT2B11	70114585	0.000000	0.05858	0.015000	0.15790	0.025000	0.11179	-1.941000	0.01542	0.149000	0.19098	0.155000	0.16302	TTT		0.383	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		G	70079996	A	G	70079996	3	3	39	1	0	0	0	0	1	0	0	0	16954	14	1	4	1168	4	UGT2B11	4	70079996	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	1295298	70079996	121074280	14	2424											
UGT2B28	54490	broad.mit.edu	37	chr4	70156481	70156481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggacttccacacaatgtCgagtacagacctgctgaatg	12	9	9	11	1	0	2	0	1	0	1	2	4	1	3	2	1	2	2	2	1	3	2	rs371664274		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70156481C>T	ENST00000335568.5	+	5	1264	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	421					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S421L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CACACAATGTCGAGTACAGAC	0.423													N|||	1	0.000199681	0	0	5008	,	,		13925	0.001		0	False		,,,				2504	0					uc003hej.3																			1	Substitution - Missense(1)	p.S421L(2)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1261-1263)tCg>tTg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)	C	LEU/SER,	1,4087		0,1,2043	118	126	124		1262,	1.9	0.1	4		124	0,8472		0,0,4236	no	missense,intron	UGT2B28	NM_053039.1,NM_001207004.1	145,	0,1,6279	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging,	421/530,	70156481	1,12559	2044	4236	6280	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156481C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1262C>T	4.37:g.70156481C>T	ENSP00000334276:p.Ser421Leu					UGT2B28_uc010ihr.3_Intron	p.S421L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			4	1264	+			421					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1262C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	13.36	2.212865	0.39102	2.45E-4	0.0	ENSG00000135226	ENST00000335568	T	0.63417	-0.04	1.85	1.85	0.25348	.	0.725983	0.11792	U	0.529079	T	0.80019	0.4547	M	0.93150	3.385	0.09310	N	0.999992	D	0.76494	0.999	D	0.64776	0.929	T	0.65837	-0.6071	10	0.87932	D	0	.	6.2527	0.20856	0.0:0.6811:0.3188:0.0	.	421	Q9BY64	UDB28_HUMAN	L	421	ENSP00000334276:S421L	ENSP00000334276:S421L	S	+	2	0	UGT2B28	70191070	0.011000	0.17503	0.149000	0.22428	0.022000	0.10575	0.069000	0.14552	1.023000	0.39654	0.184000	0.17185	TCG		0.423	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		T	70156481	C	T	70156481	3	4	39	1	0	0	0	0	1	0	0	0	16957	893	31	2	1280	2	UGT2B28	4	70156481	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	76485	70156481	120997795	15	2425											
TACR3	6870	broad.mit.edu	37	chr4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggactccattctggtcaCggtgtacatactgctttgcc	7	13	9	12	1	2	0	1	0	1	0	3	1	3	1	2	3	4	2	2	3	2	4	rs553885967		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						uc003hxe.1																			1	Substitution - Missense(1)	p.V403M(2)	prostate(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1207-1209)Gtg>Atg		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.							235	217	223					4																	104511030		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met						p.V403M	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1348	-		Hepatocellular(203;0.217)	403					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1207G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		T	104511030	C	T	104511030	3	4	39	1	0	0	0	0	1	0	0	0	15504	536	19	1	194	1	TACR3	4	104511030	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	34354549	104511030	86643246	16	2426											
C5orf33	133686	broad.mit.edu	37	chr5	36197710	36197710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattggttctcgaatactgaAaagtatttttggttcttccg	9	18	8	6	2	2	1	0	1	2	0	4	2	3	1	1	2	1	3	1	2	6	9			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:36197710A>T	ENST00000381937.4	-	11	1122	c.1123T>A	c.(1123-1125)Ttc>Atc	p.F375I	NADK2_ENST00000514504.1_Missense_Mutation_p.F343I|NADK2_ENST00000506945.1_Missense_Mutation_p.F234I|NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000397338.1_Missense_Mutation_p.F212I|NADK2_ENST00000282512.3_Missense_Mutation_p.F212I	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	375					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										CGAATACTGAAAAGTATTTTT	0.353																																						uc003jkf.4																			0				NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						c.(1123-1125)Ttc>Atc		Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.							100	92	95					5																	36197710		2203	4300	6503	SO:0001583	missense	133686						NAD+ kinase activity	g.chr5:36197710A>T	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1123T>A	5.37:g.36197710A>T	ENSP00000371362:p.Phe375Ile					NADKD1_uc003jke.4_Non-coding_Transcript|NADKD1_uc010iux.3_Missense_Mutation_p.F180I|NADKD1_uc003jkg.4_Missense_Mutation_p.F212I|NADKD1_uc011cov.2_Missense_Mutation_p.F234I	p.F375I	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN			10	1123	-			375					B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	37	c.1123T>A	CCDS47197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.408159|4.408159	0.83340|0.83340	.|.	.|.	ENSG00000152620|ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504|ENST00000502355	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	ATP-NAD kinase, PpnK-type, all-beta (1);|.	0.094233|0.094233	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46457|.	0.716;0.878;0.728|.	B;B;B|.	0.44108|.	0.311;0.441;0.196|.	T|T	0.78521|0.78521	-0.2172|-0.2172	9|6	0.72032|.	D|.	0.01|.	-12.2541|-12.2541	15.7872|15.7872	0.78315|0.78315	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	234;343;375|.	B7Z8V7;Q4G0N4-2;Q4G0N4|.	.;.;NAKD1_HUMAN|.	I|L	212;212;375;234;343|69	.|.	ENSP00000282512:F212I|.	F|F	-|-	1|3	0|2	NADKD1|NADKD1	36233467|36233467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.395000|8.395000	0.90188|0.90188	2.182000|2.182000	0.69389|0.69389	0.482000|0.482000	0.46254|0.46254	TTC|TTT		0.353	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		T	36197710	A	T	36197710	3	4	39	1	0	0	0	0	1	0	0	0	2292	14	1	5	213	5	C5orf33	5	36197710	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08		36197710	144717550	17	2427											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccgcctctgcccagCgctgtgagggccaggactgc	6	5	13	17	2	1	1	0	1	1	0	1	2	1	2	5	2	4	1	5	2	1	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:129037232C>T	ENST00000274487.4	+	20	3233	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1030	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592																																						uc003kvb.1																			0		p.R1030H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3088-3090)Cgc>Tgc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							75	68	71					5																	129037232		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037232C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3088C>T	5.37:g.129037232C>T	ENSP00000274487:p.Arg1030Cys					ADAMTS19_uc010jdh.1_Non-coding_Transcript	p.R1030C	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	19	3088	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1030			TSP type-1 3.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3088C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519990	0.64634	.	.	ENSG00000145808	ENST00000274487	T	0.52983	0.64	4.0	3.13	0.36017	.	0.209202	0.33712	N	0.004637	T	0.59715	0.2214	M	0.70842	2.15	0.58432	D	0.999991	D	0.69078	0.997	P	0.57548	0.823	T	0.62891	-0.6758	9	.	.	.	.	12.6115	0.56554	0.0:0.9173:0.0:0.0827	.	1030	Q8TE59	ATS19_HUMAN	C	1030	ENSP00000274487:R1030C	.	R	+	1	0	ADAMTS19	129065131	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.356000	0.44116	1.273000	0.44346	0.650000	0.86243	CGC		0.592	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	129037232	C	T	129037232	3	4	39	1	0	0	0	0	1	0	0	0	264	768	27	1	3166	1	ADAMTS19	5	129037232	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	92839522	129037232	51878028	18	2428											
SLC22A5	6584	broad.mit.edu	37	chr5	131728210	131728210	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctacgtgtacacagcCgagctgtatcccacagtggt	9	10	11	11	2	1	0	0	0	1	0	2	1	2	0	2	2	4	3	2	2	3	3	rs374662740		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:131728210C>T	ENST00000245407.3	+	8	1574	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	SLC22A5_ENST00000435065.2_Silent_p.A475A|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	451					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TGTACACAGCCGAGCTGTATC	0.532																																						uc003kwx.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1423-1425)gcC>gcT		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	L-Carnitine(DB00583)	C		0,4406		0,0,2203	180	153	162		1353	-8.7	0.5	5		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC22A5	NM_003060.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		451/558	131728210	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131728210C>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1353C>T	5.37:g.131728210C>T						SLC22A5_uc003kww.4_Silent_p.A451A|SLC22A5_uc010jdr.1_Silent_p.A71A	p.A475A	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1689	+		all_cancers(142;0.0751)|Breast(839;0.198)	451					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.1425C>T	CCDS4154.1																																																																																				0.532	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		T	131728210	C	T	131728210	2	4	39	1	0	0	0	0	0	0	0	1	14457	639	23	2		2	SLC22A5	5	131728210	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	2690978	131728210	49187050	19	2429											
ZNF76	7629	broad.mit.edu	37	chr6	35255444	35255444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctatgaccccagcacccTggaagccgtccaactggaag	11	5	11	14	1	0	1	0	1	0	0	1	3	1	3	5	3	3	2	5	3	4	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:35255444T>C	ENST00000373953.3	+	5	520	c.254T>C	c.(253-255)cTg>cCg	p.L85P	ZNF76_ENST00000339411.5_Missense_Mutation_p.L85P|ZNF76_ENST00000440666.2_Missense_Mutation_p.L59P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	85	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCAGCACCCTGGAAGCCGTC	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(253-255)cTg>cCg		Homo sapiens zinc finger protein 76 (ZNF76), mRNA.							93	82	86					6																	35255444		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255444T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.254T>C	6.37:g.35255444T>C	ENSP00000363064:p.Leu85Pro					ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.2_Missense_Mutation_p.L85P	p.L85P	NM_003427	NP_003418	P36508	ZNF76_HUMAN			4	459	+			85			3 X 12 AA approximate repeats.		Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.254T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828826	0.32329	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.12569	2.76;2.68;2.79;2.67	5.29	5.29	0.74685	.	0.000000	0.33834	N	0.004512	T	0.19208	0.0461	L	0.46157	1.445	0.58432	D	0.999999	D;D;P;P	0.89917	0.988;1.0;0.514;0.612	P;D;B;B	0.77004	0.758;0.989;0.246;0.121	T	0.00829	-1.1549	10	0.87932	D	0	.	10.5858	0.45282	0.0:0.0774:0.0:0.9226	.	85;85;85;85	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	P	85;85;85;85;59;85	ENSP00000419106:L85P;ENSP00000363064:L85P;ENSP00000392243:L59P;ENSP00000344097:L85P	ENSP00000229405:L85P	L	+	2	0	ZNF76	35363422	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	5.775000	0.68915	2.214000	0.71695	0.533000	0.62120	CTG		0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		C	35255444	T	C	35255444	3	2	39	1	0	0	0	0	1	0	0	0	18132	1580	55	4	268	4	ZNF76	6	35255444	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		35255444	135859623	20	2430											
DAAM2	23500	broad.mit.edu	37	chr6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggtccgcagcaagcGtcttagacagatgctagagg	10	7	15	9	2	1	3	0	0	1	3	2	4	2	4	1	3	4	4	1	3	3	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:39864627G>A	ENST00000398904.2	+	20	2563	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R794H|DAAM2_ENST00000538976.1_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000420293.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	794	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612																																						uc003oow.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2380-2382)cGt>cAt		Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.							26	31	29					6																	39864627		2009	4168	6177	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864627G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2381G>A	6.37:g.39864627G>A	ENSP00000381876:p.Arg794His					DAAM2_uc003oox.3_Missense_Mutation_p.R794H	p.R794H	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN			19	2520	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		794			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2381G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069405	0.55539	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17213	2.29;2.29;2.29	4.79	3.9	0.45041	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.065703	0.56097	D	0.000023	T	0.08403	0.0209	L	0.58583	1.82	0.80722	D	1	P;P	0.47762	0.9;0.68	B;B	0.37346	0.247;0.189	T	0.04400	-1.0954	10	0.49607	T	0.09	.	9.6458	0.39865	0.1611:0.0:0.8389:0.0	.	794;794	G5EA45;Q86T65	.;DAAM2_HUMAN	H	794	ENSP00000274867:R794H;ENSP00000381876:R794H;ENSP00000437808:R794H	ENSP00000274867:R794H	R	+	2	0	DAAM2	39972605	0.999000	0.42202	0.969000	0.41365	0.971000	0.66376	3.252000	0.51461	2.492000	0.84095	0.561000	0.74099	CGT		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39864627	G	A	39864627	3	1	39	1	0	0	0	0	1	0	0	0	4216	1145	40	1	2455	1	DAAM2	6	39864627	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	4609183	39864627	131250440	21	2431											
PRPH2	5961	broad.mit.edu	37	chr6	42672106	42672106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcccagggcctacctcGaagagccaaatgaggagcgt	10	5	14	12	2	0	2	0	1	0	1	1	4	0	3	4	3	3	1	4	3	3	1	rs62645937|rs201249148		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:42672106G>A	ENST00000230381.5	-	2	1064	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	275					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCCTACCTCGAAGAGCCAAA	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		14678	0		0	False		,,,				2504	0					uc003osk.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	GRCh37	CD972427	PRPH2	D		c.(823-825)ttC>ttT		Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.							41	36	37					6																	42672106		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42672106G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.825C>T	6.37:g.42672106G>A							p.F275F	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	1111	-	Colorectal(47;0.196)		275					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.825C>T	CCDS4871.1																																																																																				0.627	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		A	42672106	G	A	42672106	2	1	39	1	0	0	0	0	0	0	0	1	12577	1049	37	2		2	PRPH2	6	42672106	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	2807479	42672106	128442961	22	2432											
KHDRBS2	202559	broad.mit.edu	37	chr6	62995779	62995779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttctgccaaaaggcgCgacgcatgcacaaaagatgg	13	6	10	12	3	1	1	0	0	1	1	1	2	1	1	2	2	3	2	2	2	5	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:62995779C>T	ENST00000281156.4	-	1	353	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567																																						uc003peg.2																			0		p.A24V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(73-75)tcG>tcA		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							114	87	97					6																	62995779		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62995779C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.75G>A	6.37:g.62995779C>T							p.S25S	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	0	322	-			25					A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.75G>A	CCDS4963.1																																																																																				0.567	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		T	62995779	C	T	62995779	2	4	39	1	0	0	0	0	0	0	0	1	8147	755	27	1		1	KHDRBS2	6	62995779	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	20323673	62995779	108119288	23	2433											
SASH1	23328	broad.mit.edu	37	chr6	148840740	148840740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgaacggtccgccctctActctggcgtgcacaagaagc	9	7	12	13	3	2	2	0	1	2	1	3	3	3	3	2	3	4	1	2	3	4	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:148840740A>G	ENST00000367467.3	+	10	1395	c.920A>G	c.(919-921)tAc>tGc	p.Y307C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	307					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCGCCCTCTACTCTGGCGTG	0.552																																						uc003qme.1																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(919-921)tAc>tGc		Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.							80	82	81					6																	148840740		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148840740A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.920A>G	6.37:g.148840740A>G	ENSP00000356437:p.Tyr307Cys					SASH1_uc011eeb.1_Missense_Mutation_p.Y68C	p.Y307C	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	9	1395	+		Ovarian(120;0.0169)	307					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.920A>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521508	0.64747	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.55052	0.54	5.43	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.32530	0.975	0.49299	D	0.999774	P;P	0.38992	0.653;0.653	B;B	0.34652	0.187;0.187	T	0.12993	-1.0526	10	0.72032	D	0.01	-10.6381	11.336	0.49505	0.9284:0.0:0.0716:0.0	.	288;307	Q6P4R9;O94885	.;SASH1_HUMAN	C	307;68	ENSP00000356437:Y307C	ENSP00000356437:Y307C	Y	+	2	0	SASH1	148882433	1.000000	0.71417	0.643000	0.29450	0.954000	0.61252	8.904000	0.92590	0.890000	0.36211	0.533000	0.62120	TAC		0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		G	148840740	A	G	148840740	3	3	39	1	0	0	0	0	1	0	0	0	13848	391	14	4	958	4	SASH1	6	148840740	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	85844961	148840740	22274327	24	2434											
PKD1L1	168507	broad.mit.edu	37	chr7	47835588	47835588	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatctcacagcttacgTgattctcaaccatctcagcc	11	10	5	15	1	3	2	3	1	3	1	6	2	3	2	3	0	4	1	3	0	3	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:47835588T>C	ENST00000289672.2	-	55	8404	c.8354A>G	c.(8353-8355)cAc>cGc	p.H2785R	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2785					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCTTACGTGATTCTCAAC	0.413																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.e55+1		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.							198	182	187					7																	47835588		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47835588T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8355+1A>G	7.37:g.47835588T>C						C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	p.H2785_splice	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			55	8389	-			2785					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8355_splice	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012391	0.35511	.	.	ENSG00000158683	ENST00000289672	T	0.18502	2.21	5.42	2.69	0.31865	.	0.139643	0.31685	N	0.007221	T	0.09862	0.0242	L	0.27053	0.805	0.09310	N	1	B	0.30281	0.275	B	0.28638	0.092	T	0.26467	-1.0102	10	0.24483	T	0.36	-9.1684	7.0397	0.25013	0.0:0.2103:0.0:0.7897	.	2785	Q8TDX9	PK1L1_HUMAN	R	2785	ENSP00000289672:H2785R	ENSP00000289672:H2785R	H	-	2	0	PKD1L1	47802113	0.003000	0.15002	0.121000	0.21740	0.104000	0.19210	0.281000	0.18810	0.893000	0.36288	0.529000	0.55759	CAC		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Missense_Mutation	C	47835588	T	C	47835588	5	2	39	1	0	0	0	0	0	0	1	0	11964	1710	59	4	207	4	PKD1L1	7	47835588	Splice_Site	SNP	T	TCGA-06-0188-01A-01W-0254-08		47835588	111303075	25	2435											
MLL3	58508	broad.mit.edu	37	chr7	151960173	151960173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatgataccctttgtcAcacgtatcacacactagcat	14	11	5	11	1	2	1	2	1	0	0	2	1	2	1	1	0	2	3	1	0	5	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:151960173A>G	ENST00000262189.6	-	9	1445	c.1227T>C	c.(1225-1227)tgT>tgC	p.C409C	KMT2C_ENST00000355193.2_Silent_p.C409C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	409					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCTTTGTCACACGTATCAC	0.308																																						uc003wla.3										N							medulloblastoma		0		p.T408M(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(1225-1227)tgT>tgC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							107	95	99					7																	151960173		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151960173A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1227T>C	7.37:g.151960173A>G							p.C409C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1446	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	409					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1227T>C	CCDS5931.1																																																																																				0.308	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151960173	A	G	151960173	2	3	39	1	0	0	0	0	0	0	0	1	9622	157	6	4		4	MLL3	7	151960173	Silent	SNP	A	TCGA-06-0188-01A-01W-0254-08	104124585	151960173	7178490	26	2436											
RIMS2	9699	broad.mit.edu	37	chr8	105026843	105026843	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagggaacgttggatagaAgtaagttttatttctaattg	14	14	10	3	1	1	1	0	0	1	1	1	3	1	3	0	2	1	3	0	2	7	8			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105026843A>G	ENST00000436393.2	+	17	2795	c.2554A>G	c.(2554-2556)Aac>Gac	p.N852D	RIMS2_ENST00000507740.1_Splice_Site_p.K926E|RIMS2_ENST00000262231.10_Splice_Site_p.K951E|RIMS2_ENST00000406091.3_Splice_Site_p.K1112E			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1174	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGGATAGAAGTAAGTTTTA	0.418										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.e17+1		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							63	66	65					8																	105026843		1884	4104	5988	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026843A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2554+1A>G	8.37:g.105026843A>G		HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Splice_Site_p.K1112_splice|RIMS2_uc003ylw.2_Splice_Site_p.N926_splice|RIMS2_uc003ylq.3_Splice_Site_p.K926_splice|RIMS2_uc003ylr.3_Splice_Site_p.K951_splice	p.N852_splice	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2795	+			1174			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2554_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.553|5.553	0.286974|0.286974	0.10513|0.10513	.|.	.|.	ENSG00000176406|ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740|ENST00000408894;ENST00000436393	T;T;T|T;T	0.15017|0.15487	2.77;2.46;2.46|2.42;2.71	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.02011|0.02011	-0.69|-0.69	0.42849|0.42849	D|D	0.994079|0.994079	B;B;D|B	0.56035|0.16802	0.023;0.007;0.974|0.019	B;B;D|B	0.67725|0.15484	0.022;0.006;0.953|0.013	T|T	0.33317|0.33317	-0.9873|-0.9873	9|9	0.06236|0.12103	T|T	0.91|0.63	.|.	15.8417|15.8417	0.78852|0.78852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	951;926;1112|852	Q9UQ26-1;Q9UQ26-3;F8WD47|D6RA03	.;.;.|.	E|D	1149;1112;1174;951;926|926;852	ENSP00000384892:K1112E;ENSP00000262231:K951E;ENSP00000423559:K926E|ENSP00000386228:N926D;ENSP00000390665:N852D	ENSP00000262231:K951E|ENSP00000386228:N926D	K|N	+|+	1|1	0|0	RIMS2|RIMS2	105096019|105096019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.415000|8.415000	0.90241|0.90241	2.142000|2.142000	0.66516|0.66516	0.482000|0.482000	0.46254|0.46254	AAA|AAC		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Missense_Mutation	G	105026843	A	G	105026843	5	3	39	1	0	0	0	0	0	0	1	0	13368	86	3	4	3604	4	RIMS2	8	105026843	Splice_Site	SNP	A	TCGA-06-0188-01A-01W-0254-08		105026843	41337179	27	2437											
DPYS	1807	broad.mit.edu	37	chr8	105456494	105456494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctctccttgcatccgCtatcaccttagctgcagact	8	12	5	16	1	2	1	1	0	1	1	5	1	4	1	4	0	3	4	4	0	2	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105456494C>A	ENST00000351513.2	-	4	907	c.775G>T	c.(775-777)Gcg>Tcg	p.A259S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	259					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCATCCGCTATCACCTTA	0.493																																						uc003yly.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(775-777)Gcg>Tcg		Homo sapiens dihydropyrimidinase (DPYS), mRNA.							120	93	102					8																	105456494		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456494C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.775G>T	8.37:g.105456494C>A	ENSP00000276651:p.Ala259Ser						p.A259S	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	904	-			259						Missense_Mutation	SNP	ENST00000351513.2	37	c.775G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499761	0.26861	.	.	ENSG00000147647	ENST00000351513	D	0.90504	-2.68	5.74	5.74	0.90152	Amidohydrolase 1 (1);	0.117394	0.64402	D	0.000014	D	0.86502	0.5948	L	0.41961	1.31	0.47994	D	0.999569	B	0.06786	0.001	B	0.16289	0.015	T	0.80804	-0.1219	10	0.27785	T	0.31	-28.9661	13.5957	0.61988	0.0:0.9201:0.0:0.0799	.	259	Q14117	DPYS_HUMAN	S	259	ENSP00000276651:A259S	ENSP00000276651:A259S	A	-	1	0	DPYS	105525670	0.992000	0.36948	0.183000	0.23137	0.670000	0.39368	2.927000	0.48900	2.703000	0.92315	0.655000	0.94253	GCG		0.493	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		A	105456494	C	A	105456494	3	1	39	1	0	0	0	0	1	0	0	0	4746	797	28	5	808	5	DPYS	8	105456494	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	429651	105456494	40907528	28	2438											
COL14A1	7373	broad.mit.edu	37	chr8	121259908	121259908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaatggtataaccggttgCgcattacgtgggacccccca	10	8	12	11	3	0	0	0	0	0	0	0	2	0	2	4	4	3	3	4	4	4	4	rs560701039		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:121259908C>T	ENST00000297848.3	+	21	2806	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	COL14A1_ENST00000309791.4_Missense_Mutation_p.R846C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R751C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R846S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACCGGTTGCGCATTACGTG	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		15439	0		0	False		,,,				2504	0					uc003yox.3																			1	Substitution - Missense(1)	p.R846S(2)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2536-2538)Cgc>Tgc		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							105	92	97					8																	121259908		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259908C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2536C>T	8.37:g.121259908C>T	ENSP00000297848:p.Arg846Cys					COL14A1_uc003yoy.3_Missense_Mutation_p.R524C	p.R846C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		20	2801	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		846			Fibronectin type-III 7.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2536C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543933	0.65198	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051779	0.64402	D	0.000001	T	0.73426	0.3585	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.75909	-0.3151	10	0.59425	D	0.04	.	13.2286	0.59929	0.2773:0.7227:0.0:0.0	.	846;846	Q05707-2;Q05707	.;COEA1_HUMAN	C	846;846;751;659	ENSP00000311809:R846C;ENSP00000297848:R846C;ENSP00000247781:R751C;ENSP00000409461:R659C	ENSP00000247781:R751C	R	+	1	0	COL14A1	121329089	1.000000	0.71417	0.989000	0.46669	0.839000	0.47603	2.053000	0.41326	2.745000	0.94114	0.462000	0.41574	CGC		0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121259908	C	T	121259908	3	4	39	1	0	0	0	0	1	0	0	0	3671	768	27	1	2614	1	COL14A1	8	121259908	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	15803414	121259908	25104114	29	2439											
TG	7038	broad.mit.edu	37	chr8	133879299	133879299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccatctgctgggtgtcGgccaatatcttcggtaagtt	6	13	11	11	2	2	0	0	0	2	0	5	0	3	0	3	3	1	3	3	3	3	4	rs145163419	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:133879299G>A	ENST00000220616.4	+	1	94	c.54G>A	c.(52-54)tcG>tcA	p.S18S	TG_ENST00000377869.1_Silent_p.S18S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	18					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGGGTGTCGGCCAATATCT	0.617																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(52-54)tcG>tcA		Homo sapiens thyroglobulin (TG), mRNA.		G		1,4405		0,1,2202	36	26	30		54	-8.6	0	8	dbSNP_134	30	4,8596		0,4,4296	no	coding-synonymous	TG	NM_003235.4		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		18/2769	133879299	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133879299G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.54G>A	8.37:g.133879299G>A							p.S18S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	0	95	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	18					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.54G>A	CCDS34944.1																																																																																				0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133879299	G	A	133879299	2	1	39	1	0	0	0	0	0	0	0	1	15810	1103	39	2		2	TG	8	133879299	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	12619391	133879299	12484723	30	2440											
PRUNE2	158471	broad.mit.edu	37	chr9	79469120	79469120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctccaagcgtttgcttCgattctgaaacaaattcaaa	12	13	5	11	2	3	1	1	1	2	0	5	2	3	1	2	0	3	2	2	0	4	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:79469120C>T	ENST00000376718.3	-	2	164	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	PRUNE2_ENST00000376713.3_Missense_Mutation_p.R14Q|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	14					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGTTTGCTTCGATTCTGAAA	0.328																																						uc010mpk.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(40-42)cGa>cAa		Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.																																				SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79469120C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.41G>A	9.37:g.79469120C>T	ENSP00000365908:p.Arg14Gln					PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.R14Q	p.R14Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			1	165	-			14					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.41G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034331	0.75617	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15952	2.38;2.38	5.57	5.57	0.84162	.	0.280714	0.24076	U	0.041777	T	0.36663	0.0975	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.02115	-1.1211	10	0.15952	T	0.53	.	19.5508	0.95319	0.0:1.0:0.0:0.0	.	14;14	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	Q	14;13;14	ENSP00000365908:R14Q;ENSP00000365903:R14Q	ENSP00000365903:R14Q	R	-	2	0	PRUNE2	78658940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.528000	0.53524	2.617000	0.88574	0.655000	0.94253	CGA		0.328	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79469120	C	T	79469120	3	4	39	1	0	0	0	0	1	0	0	0	12641	884	31	2	9297	2	PRUNE2	9	79469120	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		79469120	61744311	31	2441											
AKNA	80709	broad.mit.edu	37	chr9	117129898	117129898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactggtcctcagagatgtcCcggttctccggaagccaccc	7	8	11	15	2	2	1	1	0	1	1	5	4	4	2	5	3	1	1	5	3	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117129898C>T	ENST00000307564.4	-	6	1814	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	AKNA_ENST00000312033.3_Silent_p.R551R|AKNA_ENST00000223791.3_Silent_p.R11R|AKNA_ENST00000374075.5_Silent_p.R470R|AKNA_ENST00000374088.3_Silent_p.R551R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	551					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGAGATGTCCCGGTTCTCCG	0.617																																						uc004biq.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(1651-1653)cgG>cgA		Homo sapiens AT-hook transcription factor (AKNA), mRNA.							50	50	50					9																	117129898		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117129898C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1653G>A	9.37:g.117129898C>T						AKNA_uc004bio.3_Silent_p.R11R|AKNA_uc004bip.3_Silent_p.R470R|AKNA_uc004bir.3_Silent_p.R551R|AKNA_uc004bis.3_Silent_p.R551R|AKNA_uc010mve.2_Silent_p.R432R|AKNA_uc004biu.1_Silent_p.R292R|AKNA_uc004biv.1_Silent_p.R551R	p.R551R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			4	1788	-			551					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.1653G>A	CCDS6805.1																																																																																				0.617	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117129898	C	T	117129898	2	4	39	1	0	0	0	0	0	0	0	1	463	610	22	3		3	AKNA	9	117129898	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	37660778	117129898	24083533	32	2442											
TNC	3371	broad.mit.edu	37	chr9	117797581	117797581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtttccgactgaacctCagtagcagtcaagtctcttg	9	11	10	11	1	3	1	2	1	1	0	5	2	4	1	2	1	2	4	2	1	3	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117797581C>T	ENST00000350763.4	-	22	6100	c.5689G>A	c.(5689-5691)Gag>Aag	p.E1897K	TNC_ENST00000537320.1_Missense_Mutation_p.E1260K|TNC_ENST00000341037.4_Missense_Mutation_p.E1715K|TNC_ENST00000535648.1_Missense_Mutation_p.E1442K|TNC_ENST00000340094.3_Missense_Mutation_p.E1533K|TNC_ENST00000346706.3_Missense_Mutation_p.E1351K|TNC_ENST00000345230.3_Missense_Mutation_p.E1260K|TNC_ENST00000423613.2_Missense_Mutation_p.E1624K|TNC_ENST00000542877.1_Missense_Mutation_p.E1534K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1897	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1897K(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGAACCTCAGTAGCAGTC	0.517																																						uc004bjj.4																			1	Substitution - Missense(1)	p.E1897K(2)|p.E1897D(1)	central_nervous_system(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5689-5691)Gag>Aag		Homo sapiens tenascin C (TNC), mRNA.							79	78	78					9																	117797581		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797581C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5689G>A	9.37:g.117797581C>T	ENSP00000265131:p.Glu1897Lys					TNC_uc010mvf.3_Missense_Mutation_p.E1624K|TNC_uc022bmj.1_Missense_Mutation_p.E1534K	p.E1897K	NM_002160	NP_002151	P24821	TENA_HUMAN			21	6101	-			1897			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5689G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633434	0.67015	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.97	5.97	0.96955	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.191551	0.56097	D	0.000030	T	0.73133	0.3548	L	0.59436	1.845	0.36802	D	0.885399	D;D	0.60160	0.987;0.973	P;P	0.62885	0.9;0.908	T	0.75470	-0.3306	10	0.56958	D	0.05	.	20.4136	0.99023	0.0:1.0:0.0:0.0	.	1624;1897	E9PC84;P24821	.;TENA_HUMAN	K	1533;1442;1351;1260;1897;969;1715;1624;1260;1534	ENSP00000344400:E1533K;ENSP00000438152:E1442K;ENSP00000344555:E1351K;ENSP00000345861:E1260K;ENSP00000265131:E1897K;ENSP00000339553:E1715K;ENSP00000411406:E1624K;ENSP00000443478:E1260K;ENSP00000442242:E1534K	ENSP00000344400:E1533K	E	-	1	0	TNC	116837402	0.998000	0.40836	0.966000	0.40874	0.921000	0.55340	3.501000	0.53325	2.819000	0.97034	0.655000	0.94253	GAG		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117797581	C	T	117797581	3	4	39	1	0	0	0	0	1	0	0	0	16267	835	29	3	944	3	TNC	9	117797581	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	667683	117797581	23415850	33	2443											
OR5C1	392391	broad.mit.edu	37	chr9	125551260	125551260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcccctgctgaattcGtcctcctgggcatcacaaat	7	11	9	14	2	1	1	1	1	0	0	4	1	3	1	4	2	2	3	4	2	2	2	rs375037936		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:125551260G>A	ENST00000373680.2	+	1	111	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCTGAATTCGTCCTCCTGGG	0.587																																						uc011lzd.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(49-51)Gtc>Atc		Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.		G	ILE/VAL	0,4406		0,0,2203	87	86	86		49	2.8	1	9		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5C1	NM_001001923.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	17/321	125551260	1,13005	2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551260G>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.49G>A	9.37:g.125551260G>A	ENSP00000362784:p.Val17Ile						p.V17I	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			0	49	+			17					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.49G>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.818772	0.00595	0.0	1.16E-4	ENSG00000148215	ENST00000373680	T	0.00433	7.43	5.14	2.82	0.32997	.	0.209806	0.23481	N	0.047719	T	0.00144	0.0004	N	0.01761	-0.735	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.02654	T	1	.	8.9178	0.35592	0.8447:0.0:0.1553:0.0	.	17	Q8NGR4	OR5C1_HUMAN	I	17	ENSP00000362784:V17I	ENSP00000362784:V17I	V	+	1	0	OR5C1	124591081	0.000000	0.05858	0.997000	0.53966	0.051000	0.14879	-0.133000	0.10451	0.416000	0.25844	-1.058000	0.02302	GTC		0.587	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			A	125551260	G	A	125551260	3	1	39	1	0	0	0	0	1	0	0	0	11153	1145	40	1	51	1	OR5C1	9	125551260	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	7753679	125551260	15662171	34	2444											
PTEN	5728	broad.mit.edu	37	chr10	89720812	89720812	+	Frame_Shift_Del	DEL	A	A	-																															tatctagtacttactttaacAaaaaatgatcttgacaaagc																								rs121913291		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr10:89720812delA	ENST00000371953.3	+	8	2320	c.963delA	c.(961-963)acafs	p.T321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACTTTAACAAAAAATGATC	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		72	Whole gene deletion(37)|Deletion - Frameshift(20)|Insertion - Frameshift(9)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1)|p.T321fs*6(1)	endometrium(18)|prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(961-963)acafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							86	87	86					10																	89720812		2203	4299	6502	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720812delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.963delA	10.37:g.89720812delA	ENSP00000361021:p.Thr321fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T321fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1995	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	321			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.963delA	CCDS31238.1																																																																																				0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720812	A	-	89720812	7	5	39	1	0	1	0	1	0	0	0	0	12738	117	5	0	993	0	PTEN	10	89720812	Frame_Shift_Del	DEL	A	TCGA-06-0188-01A-01W-0254-08		89720812	45813935	35	2445											
MMP26	56547	broad.mit.edu	37	chr11	5013297	5013297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccacttactggtatcaCgaccctagaaccttccagct	10	10	5	16	1	1	1	1	0	0	1	2	2	2	1	5	1	4	2	5	1	5	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:5013297C>T	ENST00000380390.1	+	6	915	c.699C>T	c.(697-699)caC>caT	p.H233H	MMP26_ENST00000300762.1_Silent_p.H233H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	233					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACTGGTATCACGACCCTAGAA	0.488																																						uc001lzv.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(697-699)caC>caT		Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.							86	77	80					11																	5013297		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013297C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.699C>T	11.37:g.5013297C>T							p.H233H	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	717	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	233					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.699C>T	CCDS7752.1																																																																																				0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		T	5013297	C	T	5013297	2	4	39	1	0	0	0	0	0	0	0	1	9663	535	19	1		1	MMP26	11	5013297	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08		5013297	129993219	36	2446											
OR52L1	338751	broad.mit.edu	37	chr11	6007615	6007615	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcagaagataagtttTcccaacaaaatggggaaggg	14	8	13	6	0	0	2	0	0	0	2	1	3	1	3	1	4	1	3	1	4	6	4			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:6007615T>C	ENST00000332249.4	-	1	600	c.546A>G	c.(544-546)ggA>ggG	p.G182G		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAAGTTTTCCCAACAAAA	0.488																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(544-546)ggA>ggG		Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.							104	98	100					11																	6007615		2008	4164	6172	SO:0001819	synonymous_variant	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007615T>C	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.546A>G	11.37:g.6007615T>C							p.G182G	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	601	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	182					B2RPA6|Q6IFK9	Silent	SNP	ENST00000332249.4	37	c.546A>G	CCDS44529.1																																																																																				0.488	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		C	6007615	T	C	6007615	2	2	39	1	0	0	0	0	0	0	0	1	11125	1770	62	4		4	OR52L1	11	6007615	Silent	SNP	T	TCGA-06-0188-01A-01W-0254-08	994318	6007615	128998901	37	2447											
MAP4K2	5871	broad.mit.edu	37	chr11	64568434	64568434	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaatggcagtgatgccCagggcccagacgtcacatag	11	6	12	12	1	2	2	2	1	0	1	2	2	2	2	2	2	2	2	2	2	2	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:64568434C>G	ENST00000294066.2	-	9	691	c.600G>C	c.(598-600)ctG>ctC	p.L200L	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Silent_p.L200L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGTGATGCCCAGGGCCCAGA	0.622																																						uc001obh.3																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(598-600)ctG>ctC		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.							92	95	94					11																	64568434		2201	4297	6498	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64568434C>G	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.600G>C	11.37:g.64568434C>G						MAP4K2_uc001obi.3_Silent_p.L200L	p.L200L	NM_004579	NP_004570	Q12851	M4K2_HUMAN			8	692	-			200			Protein kinase.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.600G>C	CCDS8082.1																																																																																				0.622	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		G	64568434	C	G	64568434	2	3	39	1	0	0	0	0	0	0	0	1	9260	581	21	5		5	MAP4K2	11	64568434	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	58560819	64568434	70438082	38	2448											
PTPRB	5787	broad.mit.edu	37	chr12	70986066	70986066	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaagactcacatgtTctgcccactgccatcttctg	8	10	8	15	0	4	1	1	0	3	1	4	2	4	2	3	1	3	1	3	1	1	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:70986066T>G	ENST00000261266.5	-	5	1151	c.1122A>C	c.(1120-1122)agA>agC	p.R374S	PTPRB_ENST00000550358.1_Missense_Mutation_p.R592S|PTPRB_ENST00000451516.2_Missense_Mutation_p.R374S|PTPRB_ENST00000334414.6_Missense_Mutation_p.R592S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.R374S|PTPRB_ENST00000551525.1_Missense_Mutation_p.R591S|PTPRB_ENST00000550857.1_Missense_Mutation_p.R374S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	374	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACATGTTCTGCCCACTG	0.448																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1120-1122)agA>agC		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							96	93	94					12																	70986066		1988	4174	6162	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986066T>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1122A>C	12.37:g.70986066T>G	ENSP00000261266:p.Arg374Ser					PTPRB_uc010sto.2_Missense_Mutation_p.R374S|PTPRB_uc010stp.2_Missense_Mutation_p.R374S|PTPRB_uc001swc.4_Missense_Mutation_p.R592S|PTPRB_uc001swa.4_Missense_Mutation_p.R592S|PTPRB_uc001swd.4_Missense_Mutation_p.R591S|PTPRB_uc009zrr.2_Missense_Mutation_p.R471S|PTPRB_uc001swe.3_Missense_Mutation_p.R592S	p.R374S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		4	1152	-	Renal(347;0.236)		374			Fibronectin type-III 4.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1122A>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907013	0.72868	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.86	3.52	0.40303	Fibronectin, type III (2);	0.164121	0.53938	D	0.000054	T	0.14056	0.0340	M	0.75615	2.305	0.38547	D	0.94936	P;P;D;D;P;P;P;P	0.60160	0.876;0.876;0.969;0.987;0.934;0.876;0.672;0.934	P;P;P;P;P;P;B;P	0.60609	0.614;0.614;0.869;0.877;0.852;0.614;0.41;0.748	T	0.07673	-1.0760	10	0.26408	T	0.33	.	8.2779	0.31883	0.0:0.2268:0.0:0.7732	.	374;374;471;592;591;592;374;592	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	S	592;374;592;592;374;374;374;591;471	ENSP00000334928:R592S;ENSP00000393028:R374S;ENSP00000448058:R592S;ENSP00000438927:R374S;ENSP00000447302:R374S;ENSP00000261266:R374S;ENSP00000448349:R591S;ENSP00000446982:R471S	ENSP00000261266:R374S	R	-	3	2	PTPRB	69272333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.083000	0.30815	0.484000	0.27630	0.533000	0.62120	AGA		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			G	70986066	T	G	70986066	3	3	39	1	0	0	0	0	1	0	0	0	12796	1780	62	5	4983	5	PTPRB	12	70986066	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		70986066	62865829	39	2449											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1	rs199633532		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0	0	5008	,	,		17348	0		0.001	False		,,,				2504	0					uc001tza.4																			2	Substitution - Missense(2)	p.R330H(4)|p.R330C(1)	prostate(1)|kidney(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067634	ACADS	M		c.(988-990)cGc>cAc		Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						46	52	50					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_uc010szl.1_Missense_Mutation_p.R326H	p.R330H	NM_000017	NP_000008	P16219	ACADS_HUMAN			7	1107	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		A	121176678	G	A	121176678	3	1	39	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	50190612	121176678	12675217	40	2450											
RB1	5925	broad.mit.edu	37	chr13	48953730	48953730	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	7	19	9	6	2	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	9	rs3092891	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.0?(15)|p.?(8)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.e14-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18	19	19					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation	T	48953730	C	T	48953730	5	4	39	1	0	0	0	0	0	0	1	0	13098	782	27	1	1387	1	RB1	13	48953730	Splice_Site	SNP	C	TCGA-06-0188-01A-01W-0254-08		48953730	66216148	41	2451											
OR4K5	79317	broad.mit.edu	37	chr14	20389501	20389501	+	Frame_Shift_Del	DEL	G	G	-																															cgctggcttcccatattgcaGtagtaatattattctttgga																										TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr14:20389501delG	ENST00000315915.4	+	1	761	c.736delG	c.(736-738)gtafs	p.V247fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATTGCAGTAGTAATATT	0.398																																						uc010tkw.2																			0		p.A245A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(736-738)gtafs		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							242	255	250					14																	20389501		2203	4300	6503	SO:0001589	frameshift_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389501delG	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.736delG	14.37:g.20389501delG	ENSP00000319511:p.Val247fs						p.V246fs	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	736	+	all_cancers(95;0.00108)		246					Q6IFA7	Frame_Shift_Del	DEL	ENST00000315915.4	37	c.736delG	CCDS32024.1																																																																																				0.398	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		-	20389501	G	-	20389501	7	5	39	1	0	1	0	1	0	0	0	0	11073	1029	36	0	738	0	OR4K5	14	20389501	Frame_Shift_Del	DEL	G	TCGA-06-0188-01A-01W-0254-08		20389501	86960039	42	2452											
GOLGA6D	653643	broad.mit.edu	37	chr15	75580661	75580661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatattcaagaattggagCgggctctctgtgctgtgtct	8	13	12	8	1	3	1	1	0	2	1	4	2	3	2	0	2	3	3	0	2	3	3	rs529829001		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr15:75580661C>T	ENST00000434739.3	+	7	561	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	174						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						AGAATTGGAGCGGGCTCTCTG	0.552													N|||	1	0.000199681	8e-04	0	5008	,	,		21104	0		0	False		,,,				2504	0					uc010uma.2																			0				kidney(1)|lung(1)	2						c.(520-522)Cgg>Tgg		Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.							19	19	19					15																	75580661		683	1580	2263	SO:0001583	missense	653643							g.chr15:75580661C>T		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.520C>T	15.37:g.75580661C>T	ENSP00000391085:p.Arg174Trp						p.R174W	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN			6	555	+			174						Missense_Mutation	SNP	ENST00000434739.3	37	c.520C>T	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	-	8.390	0.839439	0.16891	.	.	ENSG00000140478	ENST00000434739	T	0.25250	1.81	1.57	0.524	0.17066	.	.	.	.	.	T	0.38665	0.1049	L	0.56124	1.755	0.35692	D	0.814913	D	0.89917	1.0	D	0.73708	0.981	T	0.44436	-0.9328	9	0.54805	T	0.06	.	6.7918	0.23703	0.278:0.7219:0.0:0.0	.	174	P0CG33	GOG6D_HUMAN	W	174	ENSP00000391085:R174W	ENSP00000391085:R174W	R	+	1	2	GOLGA6D	73367714	0.613000	0.27009	0.223000	0.23860	0.193000	0.23685	0.028000	0.13644	0.184000	0.20083	0.186000	0.17326	CGG		0.552	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		T	75580661	C	T	75580661	3	4	39	1	0	0	0	0	1	0	0	0	6560	759	27	1	546	1	GOLGA6D	15	75580661	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		75580661	26950731	43	2453											
DECR2	26063	broad.mit.edu	37	chr16	455001	455001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcggctctgggattgggttCcggattgctgagattttcat	5	14	15	7	2	2	1	1	1	1	1	3	4	3	3	1	5	1	3	1	5	0	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:455001C>G	ENST00000219481.5	+	2	264	c.126C>G	c.(124-126)ttC>ttG	p.F42L	DECR2_ENST00000424398.2_Missense_Mutation_p.F42L|DECR2_ENST00000397710.1_Missense_Mutation_p.F42L	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	42					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGATTGGGTTCCGGATTGCTG	0.582																																						uc002chb.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(124-126)ttC>ttG		Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.							170	161	164					16																	455001		2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:455001C>G	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.126C>G	16.37:g.455001C>G	ENSP00000219481:p.Phe42Leu					DECR2_uc021szq.1_Missense_Mutation_p.F42L|DECR2_uc002chc.3_5'UTR|DECR2_uc002chd.3_5'UTR|DECR2_uc002che.1_5'Flank	p.F42L	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			1	232	+		Hepatocellular(16;0.00015)	42					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.126C>G	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422642	0.62733	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.41758	0.99;0.99	4.45	3.49	0.39957	NAD(P)-binding domain (1);	0.051827	0.85682	D	0.000000	T	0.21307	0.0513	N	0.04132	-0.27	0.31733	N	0.636781	B	0.22480	0.07	B	0.26969	0.075	T	0.16394	-1.0404	10	0.35671	T	0.21	.	10.5382	0.45018	0.0:0.904:0.0:0.096	.	42	Q9NUI1	DECR2_HUMAN	L	42	ENSP00000219481:F42L;ENSP00000400374:F42L	ENSP00000219481:F42L	F	+	3	2	DECR2	395002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.201000	0.32259	2.031000	0.59945	0.655000	0.94253	TTC		0.582	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		G	455001	C	G	455001	3	3	39	1	0	0	0	0	1	0	0	0	4383	854	30	5	132	5	DECR2	16	455001	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		455001	89899752	44	2454											
ITGAM	3684	broad.mit.edu	37	chr16	31284722	31284722	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccaacggagcccgaaaGaatgcctttaagatcctagt	14	8	8	11	2	1	2	1	0	0	2	2	4	2	3	4	1	3	0	4	1	5	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31284722G>A	ENST00000287497.8	+	8	816	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ITGAM_ENST00000544665.3_Silent_p.K247K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	247	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCGAAAGAATGCCTTTA	0.453																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(739-741)aaG>aaA		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							131	120	123					16																	31284722		1929	4136	6065	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31284722G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.741G>A	16.37:g.31284722G>A						ITGAM_uc002ebq.3_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	p.K247K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			7	839	+			247			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.741G>A	CCDS45470.1																																																																																				0.453	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31284722	G	A	31284722	2	1	39	1	0	0	0	0	0	0	0	1	7887	933	33	3		3	ITGAM	16	31284722	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	30829721	31284722	59070031	45	2455											
ITGAM	3684	broad.mit.edu	37	chr16	31286937	31286937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcatccaagccgcctcGtgatcacgtgttccaggtga	8	9	10	14	4	1	2	1	2	0	0	5	2	3	2	4	1	1	2	4	1	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31286937G>A	ENST00000287497.8	+	9	1001	c.926G>A	c.(925-927)cGt>cAt	p.R309H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R309H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	309	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGCCTCGTGATCACGTG	0.512																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(925-927)cGt>cAt		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							94	96	95					16																	31286937		2027	4204	6231	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31286937G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.926G>A	16.37:g.31286937G>A	ENSP00000287497:p.Arg309His					ITGAM_uc002ebq.3_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_5'UTR	p.R309H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			8	1024	+			309			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.926G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977138	0.34848	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.22336	1.96;1.96	4.51	-3.79	0.04320	von Willebrand factor, type A (3);	.	.	.	.	T	0.11495	0.0280	L	0.32530	0.975	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.32481	-0.9905	9	0.35671	T	0.21	.	2.2694	0.04086	0.4517:0.2623:0.171:0.1149	.	309;309	Q4VAK1;P11215	.;ITAM_HUMAN	H	309	ENSP00000441691:R309H;ENSP00000287497:R309H	ENSP00000287497:R309H	R	+	2	0	ITGAM	31194438	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.464000	0.06688	-0.565000	0.06061	-0.291000	0.09656	CGT		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31286937	G	A	31286937	3	1	39	1	0	0	0	0	1	0	0	0	7887	1145	40	1	960	1	ITGAM	16	31286937	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	2215	31286937	59067816	46	2456											
ATP2A3	489	broad.mit.edu	37	chr17	3850757	3850757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgactgaggtgcagcccagGgtctccacggacggcaggct	8	6	15	12	2	1	2	0	2	1	0	2	3	1	3	2	5	2	3	2	5	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:3850757G>T	ENST00000352011.3	-	8	1077	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	ATP2A3_ENST00000309890.7_Silent_p.T341T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.T341T|ATP2A3_ENST00000397041.3_Silent_p.T341T|ATP2A3_ENST00000397043.3_Silent_p.T341T|ATP2A3_ENST00000359983.3_Silent_p.T341T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	341					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCAGCCCAGGGTCTCCACGG	0.647																																					GBM(32;29 774 15719 37967)	uc002fwy.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1021-1023)acC>acA		Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.							96	76	82					17																	3850757		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850757G>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1023C>A	17.37:g.3850757G>T						ATP2A3_uc002fwz.2_Silent_p.T341T|ATP2A3_uc002fxa.2_Silent_p.T341T|ATP2A3_uc002fxb.2_Silent_p.T341T|ATP2A3_uc002fxc.2_Silent_p.T341T|ATP2A3_uc002fxd.2_Silent_p.T341T|ATP2A3_uc002fwx.2_Silent_p.T341T	p.T341T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	7	1196	-			341					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1023C>A	CCDS11041.1																																																																																				0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3850757	G	T	3850757	2	4	39	1	0	0	0	0	0	0	0	1	1138	1219	43	5		5	ATP2A3	17	3850757	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08		3850757	77344453	47	2457											
TP53	7157	broad.mit.edu	37	chr17	7576926	7576927	+	Splice_Site	DNP	GC	GC	AT																															agctggtgttgttgggcagtGctaggaaagaggcaaggaaa																								rs587781702		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:7576926_7576927GC>AT	ENST00000269305.4	-	9	1109	c.920_920GC>AT	c.(919-921)gGCc>gATcc	p.G307D	TP53_ENST00000445888.2_Splice_Site_p.G307D|TP53_ENST00000359597.4_Splice_Site_p.G307D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.G307D|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site_p.G307D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	307	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGGGCAGTGCTAGGAAAGAG	0.49		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		31	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1)	upper_aerodigestive_tract(7)|ovary(5)|central_nervous_system(4)|bone(4)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576926_7576927GC>AT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.920_920delinsAT	17.37:g.7576926_7576927delinsAT		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.A307_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1114	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	307		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DNP	ENST00000269305.4	37	c.920_splice	CCDS11118.1																																																																																				0.49	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	AT	7576927	GC	AT	7576926	5	1	39	1	0	0	0	0	0	0	1	0	16378	1333	46	3	362	3	TP53	17	7576926	Splice_Site	DNP	GC	TCGA-06-0188-01A-01W-0254-08	3726169	7576926	73618284	48	2458											
MYH8	4626	broad.mit.edu	37	chr17	10315706	10315706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaaagatttcaaagccaGcaatgtccaagaccccgatg	15	7	7	12	1	2	2	2	0	0	2	3	3	3	2	4	0	2	1	4	0	4	1	rs554419599		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:10315706G>A	ENST00000403437.2	-	14	1491	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	466	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCAAAGCCAGCAATGTCCAA	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G|||	1	0.000199681	8e-04	0	5008	,	,		20000	0		0	False		,,,				2504	0					uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1396-1398)gCt>gTt		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							155	156	155					17																	10315706		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315706G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1397C>T	17.37:g.10315706G>A	ENSP00000384330:p.Ala466Val					AK097500_uc002gml.1_Intron	p.A466V	NM_002472	NP_002463	P13535	MYH8_HUMAN			13	1492	-			466			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1397C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009350	0.93346	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.72282	-0.64	4.81	4.81	0.61882	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000883	D	0.90868	0.7131	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94672	0.7857	10	0.87932	D	0	.	18.0694	0.89400	0.0:0.0:1.0:0.0	.	466	P13535	MYH8_HUMAN	V	466	ENSP00000384330:A466V	ENSP00000252173:A466V	A	-	2	0	MYH8	10256431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.598000	0.98277	2.502000	0.84385	0.650000	0.86243	GCT		0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10315706	G	A	10315706	3	1	39	1	0	0	0	0	1	0	0	0	10041	971	34	3	4524	3	MYH8	17	10315706	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	2738780	10315706	70879504	49	2459											
ACSF2	80221	broad.mit.edu	37	chr17	48540562	48540562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctctcccactacaacAttgtcaacaactccaacatt	13	9	1	18	0	2	0	1	0	1	0	4	0	3	0	4	0	5	0	4	0	5	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:48540562A>G	ENST00000300441.4	+	7	942	c.838A>G	c.(838-840)Att>Gtt	p.I280V	ACSF2_ENST00000541920.1_Missense_Mutation_p.I120V|ACSF2_ENST00000502667.1_Missense_Mutation_p.I267V|ACSF2_ENST00000427954.2_Missense_Mutation_p.I305V|ACSF2_ENST00000504392.1_Missense_Mutation_p.I237V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	280					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACTACAACATTGTCAACAA	0.597																																						uc010wmm.1																			0				endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13						c.(913-915)Att>Gtt		Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.							100	107	104					17																	48540562		2203	4300	6503	SO:0001583	missense	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48540562A>G	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.838A>G	17.37:g.48540562A>G	ENSP00000300441:p.Ile280Val					ACSF2_uc002iqu.2_Missense_Mutation_p.I280V|ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	p.I305V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	1017	+	Breast(11;1.93e-18)		280					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	c.913A>G	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543848	0.65198	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.2	5.2	0.72013	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.58810	1.83	0.54753	D	0.999983	P;P;P;P	0.50710	0.891;0.938;0.891;0.891	P;P;P;P	0.55303	0.669;0.773;0.669;0.669	T	0.51529	-0.8694	10	0.35671	T	0.21	-16.0505	15.0828	0.72127	1.0:0.0:0.0:0.0	.	267;305;237;280	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	280;120;237;305;267	ENSP00000300441:I280V;ENSP00000437987:I120V;ENSP00000425964:I237V;ENSP00000401831:I305V;ENSP00000421884:I267V	ENSP00000300441:I280V	I	+	1	0	ACSF2	45895561	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.207000	0.51106	1.961000	0.56991	0.460000	0.39030	ATT		0.597	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		G	48540562	A	G	48540562	3	3	39	1	0	0	0	0	1	0	0	0	175	217	8	4	864	4	ACSF2	17	48540562	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	38224856	48540562	32654648	50	2460											
RAVER1	125950	broad.mit.edu	37	chr19	10434237	10434237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccatcctggccgcaCgccagctgccggaggaaggc	7	4	14	16	3	0	0	0	0	0	0	1	2	1	2	5	4	4	3	5	4	1	0	rs550383395		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr19:10434237C>T	ENST00000293677.6	-	4	894	c.813G>A	c.(811-813)gcG>gcA	p.A271A	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTGGCCGCACGCCAGCTGCC	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		18180	0		0	False		,,,				2504	0					uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(811-813)gcG>gcA		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							23	27	26					19																	10434237		2187	4276	6463	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434237C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.813G>A	19.37:g.10434237C>T							p.A271A	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	893	-			254			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.813G>A	CCDS45960.1																																																																																				0.652	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		T	10434237	C	T	10434237	2	4	39	1	0	0	0	0	0	0	0	1	13094	523	19	1		1	RAVER1	19	10434237	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08		10434237	48694746	51	2461											
ITSN1	6453	broad.mit.edu	37	chr21	35230998	35230998	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcatctgtagatttttcaAaaacccctgatggagtctga	11	13	8	9	0	3	3	1	2	2	1	3	4	3	4	2	1	2	2	2	1	3	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:35230998A>G	ENST00000381318.3	+	31	4080	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	ITSN1_ENST00000437442.2_Silent_p.Q1259Q|ITSN1_ENST00000381285.4_Silent_p.Q1264Q|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.Q1259Q|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1264	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATTTTTCAAAAACCCCTGA	0.428																																						uc002yta.1																			0		p.Q1264K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3790-3792)caA>caG		Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.							86	92	90					21																	35230998		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35230998A>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3792A>G	21.37:g.35230998A>G						DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_Non-coding_Transcript	p.Q1264Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			30	4060	+			1264			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3792A>G	CCDS33545.1																																																																																				0.428	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		G	35230998	A	G	35230998	2	3	39	1	0	0	0	0	0	0	0	1	7926	11	1	4		4	ITSN1	21	35230998	Silent	SNP	A	TCGA-06-0188-01A-01W-0254-08		35230998	12898897	52	2462											
UMODL1	89766	broad.mit.edu	37	chr21	43524017	43524017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtctgacttgtacCgaagtgggaagctgagaatg	10	10	15	6	1	1	2	0	2	1	1	1	5	1	3	1	2	2	2	1	2	4	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:43524017C>T	ENST00000408910.2	+	9	1339	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	UMODL1_ENST00000400424.2_Nonsense_Mutation_p.R375*|C21orf128_ENST00000329015.2_Silent_p.S72S|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.R447*|UMODL1_ENST00000400427.1_Nonsense_Mutation_p.R375*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	447	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.		R -> Q (in dbSNP:rs146310440). {ECO:0000269|PubMed:16026467}.		adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGACTTGTACCGAAGTGGGAA	0.562																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1339-1341)Cga>Tga		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							221	171	188					21																	43524017		2203	4300	6503	SO:0001587	stop_gained	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524017C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1339C>T	21.37:g.43524017C>T	ENSP00000386147:p.Arg447*					UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	p.R447*	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			8	1339	+			447		R -> Q.	SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	c.1339C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489522	0.96323	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	3.49	-4.27	0.03744	.	0.771626	0.11027	N	0.607682	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2488	13.7618	0.62971	0.3354:0.6646:0.0:0.0	.	.	.	.	X	375;375;447;447	.	ENSP00000383276:R375X	R	+	1	2	UMODL1	42397086	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.270000	0.08584	-0.853000	0.04136	-0.169000	0.13324	CGA		0.562	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43524017	C	T	43524017	4	4	39	1	0	0	0	0	0	1	0	0	16977	644	23	2	1373	2	UMODL1	21	43524017	Nonsense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	8293019	43524017	4605878	53	2463											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978434	45978434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggccgcctggcagcagggGctggacacacagctcactgg	8	4	15	14	1	1	0	1	0	0	0	1	1	1	1	2	6	2	4	2	6	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:45978434G>A	ENST00000391620.1	-	1	209	c.165C>T	c.(163-165)agC>agT	p.S55S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	55	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCAGCAGGGGCTGGACACAC	0.711																																						uc002zfj.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(163-165)agC>agT		Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.							33	35	34					21																	45978434		2180	4277	6457	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978434G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.165C>T	21.37:g.45978434G>A						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.S55S	NM_198696	NP_941969	P60369	KR103_HUMAN			0	210	-			55			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.165C>T	CCDS42956.1																																																																																				0.711	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			A	45978434	G	A	45978434	2	1	39	1	0	0	0	0	0	0	0	1	8510	1194	42	3		3	KRTAP10-3	21	45978434	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	2454417	45978434	2151461	54	2464											
LZTR1	8216	broad.mit.edu	37	chr22	21351542	21351542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaagttgcccaccctgCggtcgctgagccagcagctg	6	8	11	16	2	1	1	0	1	1	0	3	1	1	1	4	1	5	4	4	1	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr22:21351542C>T	ENST00000215739.8	+	21	2787	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R791W	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	810					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R810W(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCCACCCTGCGGTCGCTGAG	0.642																																						uc002zto.3																			1	Substitution - Missense(1)	p.R810W(2)	endometrium(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(2428-2430)Cgg>Tgg		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							69	63	65					22																	21351542		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21351542C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2428C>T	22.37:g.21351542C>T	ENSP00000215739:p.Arg810Trp					LZTR1_uc002ztn.3_Missense_Mutation_p.R769W|LZTR1_uc011ahy.2_Missense_Mutation_p.R791W	p.R810W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		20	2531	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	810					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.2428C>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771119	0.90108	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.59083	0.69;0.29	5.52	4.48	0.54585	.	0.060476	0.64402	D	0.000002	T	0.70771	0.3262	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.952;0.992	T	0.73675	-0.3908	10	0.87932	D	0	-33.1672	13.3681	0.60696	0.1587:0.8413:0.0:0.0	.	791;810;769	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	W	769;810;791	ENSP00000215739:R810W;ENSP00000374006:R791W	ENSP00000215739:R810W	R	+	1	2	LZTR1	19681542	1.000000	0.71417	0.793000	0.32043	0.808000	0.45660	3.875000	0.56108	1.284000	0.44531	0.563000	0.77884	CGG		0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21351542	C	T	21351542	3	4	39	1	0	0	0	0	1	0	0	0	9137	759	27	1	2510	1	LZTR1	22	21351542	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		21351542	29953024	55	2465											
ZNF41	7592	broad.mit.edu	37	chrX	47308259	47308259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggggaagactttgttgcTtttgtcacattcacgggact	7	14	12	8	1	2	1	2	0	0	1	2	3	2	3	0	3	1	2	0	3	1	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:47308259T>C	ENST00000377065.4	-	5	1549	c.910A>G	c.(910-912)Agc>Ggc	p.S304G	ZNF41_ENST00000397050.2_Missense_Mutation_p.S314G|ZNF41_ENST00000313116.7_Missense_Mutation_p.S304G|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACTTTGTTGCTTTTGTCACAT	0.418																																						uc004dhs.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1036-1038)Agc>Ggc		Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.							87	80	83					X																	47308259		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308259T>C	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.910A>G	X.37:g.47308259T>C	ENSP00000366265:p.Ser304Gly					ZNF41_uc004dhu.4_Missense_Mutation_p.S338G|ZNF41_uc004dht.4_Missense_Mutation_p.S218G|ZNF41_uc004dhv.4_Missense_Mutation_p.S314G|ZNF41_uc004dhw.4_Missense_Mutation_p.S306G|ZNF41_uc004dhy.4_Missense_Mutation_p.S304G|ZNF41_uc004dhx.4_Missense_Mutation_p.S304G|ZNF41_uc011mlm.2_Missense_Mutation_p.S218G	p.S346G	NM_153380	NP_700359	P51814	ZNF41_HUMAN			3	1103	-		all_lung(315;0.000129)	346					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1036A>G	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661889	0.29515	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.15017	2.46;2.46;2.46	3.32	-4.56	0.03431	Zinc finger, C2H2 (1);	1.026630	0.07797	N	0.955822	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29301	0.0;0.0;0.241;0.0;0.0	B;B;B;B;B	0.25140	0.001;0.001;0.058;0.002;0.001	T	0.30736	-0.9968	10	0.72032	D	0.01	.	0.3342	0.00323	0.2888:0.2053:0.291:0.2149	.	304;306;314;338;346	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	G	304;304;314	ENSP00000315173:S304G;ENSP00000366265:S304G;ENSP00000380243:S314G	ENSP00000315173:S304G	S	-	1	0	ZNF41	47193203	0.132000	0.22450	0.000000	0.03702	0.002000	0.02628	1.910000	0.39927	-1.116000	0.02969	0.481000	0.45027	AGC		0.418	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		C	47308259	T	C	47308259	3	2	39	1	0	0	0	0	1	0	0	0	17886	1609	56	4	1433	4	ZNF41	23	47308259	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		47308259	107962301	56	2466											
BCORL1	63035	broad.mit.edu	37	chrX	129190028	129190028	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccccccaggctcctctGagactgtggagctggtgcgg	5	8	14	14	1	1	1	0	1	1	1	3	4	3	2	4	4	2	2	4	4	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:129190028G>T	ENST00000218147.7	+	13	5250	c.5053G>T	c.(5053-5055)Gag>Tag	p.E1685*	BCORL1_ENST00000540052.1_Nonsense_Mutation_p.E1685*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E1555*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E1759*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1685					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGCTCCTCTGAGACTGTGGA	0.627																																						uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5053-5055)Gag>Tag		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							41	41	41					X																	129190028		2203	4300	6503	SO:0001587	stop_gained	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190028G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5053G>T	X.37:g.129190028G>T	ENSP00000218147:p.Glu1685*					BCORL1_uc004evc.2_Nonsense_Mutation_p.E521*	p.E1685*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			11	5097	+			1685					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	ENST00000218147.7	37	c.5053G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	g	41	9.075675	0.99057	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.	.	.	4.85	4.85	0.62838	.	0.000000	0.34828	N	0.003657	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.6805	17.1749	0.86839	0.0:0.0:1.0:0.0	.	.	.	.	X	1685;1759;1555;1685;1359	.	ENSP00000218147:E1685X	E	+	1	0	BCORL1	129017709	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	4.832000	0.62759	2.235000	0.73313	0.509000	0.49947	GAG		0.627	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129190028	G	T	129190028	4	4	39	1	0	0	0	0	0	1	0	0	1387	1291	45	5	5325	5	BCORL1	23	129190028	Nonsense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	81881769	129190028	26080532	57	2467											
HMCN1	83872	broad.mit.edu	37	chr1	185815175	185815175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaattggcccagtgacaAttaccacagatcccaagaaa	17	6	7	11	0	0	4	0	1	0	3	1	4	1	4	3	1	1	0	3	1	5	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr1:185815175A>T	ENST00000271588.4	+	2	515	c.286A>T	c.(286-288)Att>Ttt	p.I96F	HMCN1_ENST00000367492.2_Missense_Mutation_p.I96F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	96	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGTGACAATTACCACAGA	0.358																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(286-288)Att>Ttt		Homo sapiens hemicentin 1 (HMCN1), mRNA.							107	105	106					1																	185815175		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815175A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.286A>T	1.37:g.185815175A>T	ENSP00000271588:p.Ile96Phe						p.I96F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			1	515	+			96			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.286A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048330	0.55110	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97553	-4.43;-4.43	5.48	3.18	0.36537	von Willebrand factor, type A (1);	0.104580	0.64402	D	0.000008	D	0.94311	0.8172	N	0.19112	0.55	0.58432	D	0.999993	P	0.45672	0.864	P	0.51079	0.658	D	0.92061	0.5656	10	0.72032	D	0.01	.	7.3365	0.26613	0.8221:0.0:0.1779:0.0	.	96	Q96RW7	HMCN1_HUMAN	F	96	ENSP00000271588:I96F;ENSP00000356462:I96F	ENSP00000271588:I96F	I	+	1	0	HMCN1	184081798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.683000	0.61679	0.387000	0.25024	0.460000	0.39030	ATT		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185815175	A	T	185815175	3	4	40	1	0	0	0	0	1	0	0	0	7220	101	4	5	292	5	HMCN1	1	185815175	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		185815175	63435446	1	2468											
UXS1	80146	broad.mit.edu	37	chr2	106761696	106761696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaatcaactcgaagttcTcatgtccgatccagtgctcc	9	12	8	12	2	2	0	2	0	1	0	7	2	5	0	3	1	2	3	3	1	3	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:106761696T>C	ENST00000409501.3	-	6	464	c.407A>G	c.(406-408)gAg>gGg	p.E136G	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Missense_Mutation_p.E79G|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.E141G			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	136					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCGAAGTTCTCATGTCCGAT	0.512																																						uc002tdm.3																			0		p.E135Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(406-408)gAg>gGg		Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.							99	100	99					2																	106761696		1998	4159	6157	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106761696T>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.407A>G	2.37:g.106761696T>C	ENSP00000387019:p.Glu136Gly					UXS1_uc002tdn.3_Missense_Mutation_p.E141G|UXS1_uc002tdo.3_Missense_Mutation_p.E79G|UXS1_uc010ywh.2_Intron	p.E136G	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			5	505	-			136					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.407A>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961709	0.74016	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	N	0.16307	0.4	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.21151	0.029;0.033	D	0.84704	0.0730	10	0.72032	D	0.01	-11.979	16.2141	0.82191	0.0:0.0:0.0:1.0	.	141;136	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	G	141;79;136;79	ENSP00000283148:E141G;ENSP00000438265:E79G;ENSP00000387019:E136G;ENSP00000399316:E79G	ENSP00000283148:E141G	E	-	2	0	UXS1	106128128	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	7.665000	0.83852	2.230000	0.72887	0.528000	0.53228	GAG		0.512	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		C	106761696	T	C	106761696	3	2	40	1	0	0	0	0	1	0	0	0	17106	1551	54	4	895	4	UXS1	2	106761696	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		106761696	136437677	2	2469											
NCKAP5	344148	broad.mit.edu	37	chr2	133541813	133541813	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatctgatcgtaattcAaagaggggccctgagctctc	9	11	12	9	1	3	3	1	2	2	1	5	4	3	4	1	3	1	2	1	3	2	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:133541813A>C	ENST00000409261.1	-	14	2944	c.2571T>G	c.(2569-2571)ttT>ttG	p.F857L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.F857L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	857										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCGTAATTCAAAGAGGGGCC	0.532																																						uc002ttp.3																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2569-2571)ttT>ttG		Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.							85	86	86					2																	133541813		1930	4135	6065	SO:0001583	missense	344148						protein binding	g.chr2:133541813A>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2571T>G	2.37:g.133541813A>C	ENSP00000387128:p.Phe857Leu					NCKAP5_uc002ttq.3_Intron	p.F857L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			13	2945	-			857					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2571T>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	a	3.764	-0.049006	0.07407	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.08720	3.06;3.06	5.28	-0.00446	0.14022	.	0.405768	0.17758	U	0.163005	T	0.03348	0.0097	N	0.17082	0.46	0.09310	N	0.999999	B	0.12013	0.005	B	0.12156	0.007	T	0.43180	-0.9407	10	0.09590	T	0.72	.	2.0578	0.03585	0.4823:0.254:0.1501:0.1136	.	857	O14513	NCKP5_HUMAN	L	857	ENSP00000387128:F857L;ENSP00000380603:F857L	ENSP00000380603:F857L	F	-	3	2	NCKAP5	133258283	0.020000	0.18652	0.004000	0.12327	0.625000	0.37756	0.685000	0.25378	0.118000	0.18165	-0.255000	0.11280	TTT		0.532	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		C	133541813	A	C	133541813	3	2	40	1	0	0	0	0	1	0	0	0	10223	127	5	5	3186	5	NCKAP5	2	133541813	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	26780117	133541813	109657560	3	2470											
TM4SF19	116211	broad.mit.edu	37	chr3	196051173	196051173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttgaatgggtaaccatAtttccaagcttgtgtctgat	9	16	9	7	0	2	2	0	2	2	0	3	2	3	2	2	1	2	2	2	1	4	5			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr3:196051173A>G	ENST00000273695.3	-	4	543	c.418T>C	c.(418-420)Tat>Cat	p.Y140H	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000446879.1_Missense_Mutation_p.Y140H|TM4SF19_ENST00000454715.1_Missense_Mutation_p.Y114H|TM4SF19_ENST00000442633.1_Missense_Mutation_p.Y140H|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	140						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGGTAACCATATTTCCAAGCT	0.438																																						uc010iad.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(418-420)Tat>Cat		Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.							101	93	96					3																	196051173		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196051173A>G	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.418T>C	3.37:g.196051173A>G	ENSP00000273695:p.Tyr140His					TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.Y140H|TM4SF19_uc021xjs.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.2_Missense_Mutation_p.Y114H	p.Y140H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	576	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		140					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.418T>C	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655224	0.47467	.	.	ENSG00000145107	ENST00000446879;ENST00000454715;ENST00000273695	T;T;T	0.48836	0.8;0.8;0.8	5.01	3.84	0.44239	.	0.307118	0.28659	N	0.014580	T	0.34395	0.0896	L	0.34521	1.04	0.28604	N	0.908993	B;B;B	0.29232	0.006;0.238;0.009	B;B;B	0.29267	0.012;0.1;0.018	T	0.33445	-0.9868	10	0.87932	D	0	-5.3017	6.9112	0.24336	0.8899:0.0:0.1101:0.0	.	114;140;140	E9PH22;C9JCD5;Q96DZ7	.;.;T4S19_HUMAN	H	140;114;140	ENSP00000395280:Y140H;ENSP00000387728:Y114H;ENSP00000273695:Y140H	ENSP00000273695:Y140H	Y	-	1	0	TM4SF19	197535570	0.998000	0.40836	0.996000	0.52242	0.958000	0.62258	2.866000	0.48420	0.748000	0.32831	0.460000	0.39030	TAT		0.438	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		G	196051173	A	G	196051173	3	3	40	1	0	0	0	0	1	0	0	0	15965	449	16	4	219	4	TM4SF19	3	196051173	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		196051173	1971257	4	2471											
UGT2B4	7363	broad.mit.edu	37	chr4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaaaatcccagtagtttcGaataagccatatgtcagctt	13	13	7	8	1	1	1	1	1	0	0	3	2	2	1	2	0	2	3	2	0	6	6			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr4:70359506G>A	ENST00000305107.6	-	2	821	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.R123*|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.R259*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAGTAGTTTCGAATAAGCCAT	0.413																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(775-777)Cga>Tga		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							108	115	112					4																	70359506		2185	4296	6481	SO:0001587	stop_gained	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70359506G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.775C>T	4.37:g.70359506G>A	ENSP00000305221:p.Arg259*					UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	822	-			259					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	ENST00000305107.6	37	c.775C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177083	0.38413	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	.	.	.	1.95	1.05	0.20165	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8344	0.29362	0.0:0.0:0.7533:0.2467	.	.	.	.	X	259;259;123	.	ENSP00000305221:R259X	R	-	1	2	UGT2B4	70394095	0.000000	0.05858	0.012000	0.15200	0.031000	0.12232	-0.233000	0.09041	0.344000	0.23847	0.298000	0.19748	CGA		0.413	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		A	70359506	G	A	70359506	4	1	40	1	0	0	0	0	0	1	0	0	16958	1066	37	2	831	2	UGT2B4	4	70359506	Nonsense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		70359506	120794770	5	2472											
STK10	6793	broad.mit.edu	37	chr5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagactggctgggtgccagcGgggtggaaggtgactcctcg	6	7	19	9	2	0	2	0	1	0	1	2	4	1	3	2	6	2	1	2	6	1	0			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr5:171520876G>A	ENST00000176763.5	-	9	1437	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	365					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587																																						uc003mbo.1																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1093-1095)cCg>cTg		Homo sapiens serine/threonine kinase 10 (STK10), mRNA.							43	48	46					5																	171520876		2201	4299	6500	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171520876G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1094C>T	5.37:g.171520876G>A	ENSP00000176763:p.Pro365Leu						p.P365L	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1394	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	365					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1094C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498420	0.26861	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.62941	-0.01	4.67	1.29	0.21616	.	0.857706	0.10282	N	0.693425	T	0.48095	0.1481	L	0.40543	1.245	0.23221	N	0.998097	B	0.12013	0.005	B	0.04013	0.001	T	0.33445	-0.9868	10	0.33141	T	0.24	.	5.4952	0.16799	0.217:0.1621:0.6209:0.0	.	365	O94804	STK10_HUMAN	L	365	ENSP00000176763:P365L	ENSP00000176763:P365L	P	-	2	0	STK10	171453481	0.010000	0.17322	0.002000	0.10522	0.002000	0.02628	1.096000	0.30976	0.377000	0.24735	-0.136000	0.14681	CCG		0.587	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		A	171520876	G	A	171520876	3	1	40	1	0	0	0	0	1	0	0	0	15285	1116	39	2	1856	2	STK10	5	171520876	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		171520876	9394384	6	2473											
RUNX2	860	broad.mit.edu	37	chr6	45514682	45514682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctttacttacaccccGccagtcacctcaggcatgtc	8	9	6	18	1	2	0	2	0	0	0	3	0	2	0	6	1	2	1	6	1	2	3	rs200992166		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr6:45514682G>A	ENST00000371438.1	+	8	1564	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	RUNX2_ENST00000371436.6_Silent_p.P380P|RUNX2_ENST00000541979.1_Silent_p.P448P|RUNX2_ENST00000359524.5_Silent_p.P388P|RUNX2_ENST00000371432.3_Silent_p.P366P|RUNX2_ENST00000352853.5_Silent_p.P470P|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000465038.2_Silent_p.P402P	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	402	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTACACCCCGCCAGTCACCT	0.577																																						uc011dvx.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1204-1206)ccG>ccA		Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.							134	109	118					6																	45514682		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514682G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1206G>A	6.37:g.45514682G>A						RUNX2_uc011dvy.2_Silent_p.P380P|RUNX2_uc003oxt.3_Silent_p.P388P	p.P402P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			8	1416	+			402			Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.1206G>A	CCDS43467.2																																																																																				0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45514682	G	A	45514682	2	1	40	1	0	0	0	0	0	0	0	1	13748	1074	38	1		1	RUNX2	6	45514682	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08		45514682	125600385	7	2474											
WBSCR27	155368	broad.mit.edu	37	chr7	73249094	73249094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcctcaacctgggtcgCcttccactttcggtacaggt	6	12	8	15	2	1	0	1	0	0	0	5	0	3	0	4	3	2	1	4	3	2	4			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:73249094C>T	ENST00000297873.4	-	6	766	c.717G>A	c.(715-717)agG>agA	p.R239R		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	239										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACCTGGGTCGCCTTCCACTTT	0.632																																						uc003tzj.2																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(715-717)agG>agA		Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.							48	45	46					7																	73249094		2203	4300	6503	SO:0001819	synonymous_variant	155368							g.chr7:73249094C>T	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.717G>A	7.37:g.73249094C>T							p.R239R	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN			5	757	-		Lung NSC(55;0.159)	239						Silent	SNP	ENST00000297873.4	37	c.717G>A	CCDS5561.1																																																																																				0.632	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		T	73249094	C	T	73249094	2	4	40	1	0	0	0	0	0	0	0	1	17263	738	26	3		3	WBSCR27	7	73249094	Silent	SNP	C	TCGA-06-0189-01A-01D-1491-08		73249094	85889569	8	2475											
CUX1	1523	broad.mit.edu	37	chr7	101847816	101847816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgttctacccgtccAgggccagcagcaagggccag	8	5	14	14	1	1	0	0	0	1	0	2	0	2	0	5	3	3	3	5	3	2	2	rs201363592		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:101847816A>G	ENST00000292535.7	+	19	3091	c.3053A>G	c.(3052-3054)cAg>cGg	p.Q1018R	CUX1_ENST00000550008.2_Missense_Mutation_p.Q962R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.Q916R|CUX1_ENST00000549414.2_Missense_Mutation_p.Q996R|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.Q860R|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.Q1029R	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1018					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTACCCGTCCAGGGCCAGCAG	0.647																																						uc003uys.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3085-3087)cAg>cGg		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.							66	61	63					7																	101847816		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101847816A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3053A>G	7.37:g.101847816A>G	ENSP00000292535:p.Gln1018Arg					CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.Q1018R	p.Q1029R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN			18	3213	+			1018					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3086A>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384692	0.61845	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.17;0.17;0.17;0.16	5.71	4.5	0.54988	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.206543	0.42682	D	0.000671	T	0.33556	0.0867	N	0.08118	0	0.80722	D	1	P;P	0.42584	0.784;0.589	B;B	0.40009	0.316;0.211	T	0.17961	-1.0352	10	0.10111	T	0.7	-19.7354	11.7332	0.51750	0.8679:0.0:0.0:0.1321	.	1018;1029	P39880;P39880-3	CUX1_HUMAN;.	R	1029;1018;996;962;916;860	ENSP00000353401:Q1029R;ENSP00000292535:Q1018R;ENSP00000446630:Q996R;ENSP00000447373:Q962R;ENSP00000450125:Q916R;ENSP00000451558:Q860R	ENSP00000292535:Q1018R	Q	+	2	0	CUX1	101634536	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	6.195000	0.72088	2.178000	0.69098	0.482000	0.46254	CAG		0.647	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		G	101847816	A	G	101847816	3	3	40	1	0	0	0	0	1	0	0	0	4064	188	7	4	3194	4	CUX1	7	101847816	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	28598722	101847816	57290847	9	2476											
AASS	10157	broad.mit.edu	37	chr7	121756793	121756793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgacgacttaacaccGtcccatacacttttctgagg	11	11	8	11	2	1	3	0	3	1	0	2	5	2	3	2	1	2	0	2	1	2	4			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:121756793G>A	ENST00000393376.1	-	7	883	c.788C>T	c.(787-789)aCg>aTg	p.T263M	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.T263M			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	263	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T263M(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ACTTAACACCGTCCCATACAC	0.353																																						uc003vka.3																			1	Substitution - Missense(1)	p.T263T(2)|p.T263M(2)	breast(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(787-789)aCg>aTg		Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						69	63	65					7																	121756793		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121756793G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.788C>T	7.37:g.121756793G>A	ENSP00000377040:p.Thr263Met					AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.T263M|AASS_uc011knw.2_Intron	p.T263M	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			6	884	-			263			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.788C>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646779	0.87958	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82893	-1.66;-1.66	5.82	5.82	0.92795	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92029	0.5632	10	0.72032	D	0.01	-19.3849	20.0953	0.97838	0.0:0.0:1.0:0.0	.	263	Q9UDR5	AASS_HUMAN	M	263	ENSP00000377040:T263M;ENSP00000403768:T263M	ENSP00000351834:T263M	T	-	2	0	AASS	121544029	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	ACG		0.353	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		A	121756793	G	A	121756793	3	1	40	1	0	0	0	0	1	0	0	0	24	1145	40	1	2060	1	AASS	7	121756793	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	19908977	121756793	37381870	10	2477											
GRM8	2918	broad.mit.edu	37	chr7	126882805	126882805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggagcttgctgcagcacCtatgacgccagaaatcttgt	10	9	10	12	2	1	2	0	1	1	1	1	3	1	3	2	1	4	4	2	1	2	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:126882805C>G	ENST00000339582.2	-	2	1262	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	GRM8_ENST00000358373.3_Missense_Mutation_p.G152R|GRM8_ENST00000405249.1_Missense_Mutation_p.G152R|GRM8_ENST00000444921.2_Missense_Mutation_p.G152R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	152					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCTGCAGCACCTATGACGCCA	0.433										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(454-456)Ggt>Cgt		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						158	132	141					7																	126882805		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882805C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.454G>C	7.37:g.126882805C>G	ENSP00000344173:p.Gly152Arg	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_Non-coding_Transcript	p.G152R	NM_000845	NP_000836	O00222	GRM8_HUMAN			0	765	-		Prostate(267;0.186)	152					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.454G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312403	0.81358	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98945	1.0792	10	0.87932	D	0	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	152;152	O00222-2;O00222	.;GRM8_HUMAN	R	152	ENSP00000344173:G152R;ENSP00000409790:G152R;ENSP00000351142:G152R;ENSP00000385731:G152R;ENSP00000415522:G152R	ENSP00000344173:G152R	G	-	1	0	GRM8	126670041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.650000	0.86243	GGT		0.433	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			G	126882805	C	G	126882805	3	3	40	1	0	0	0	0	1	0	0	0	6803	681	24	5	2362	5	GRM8	7	126882805	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08	5126012	126882805	32255858	11	2478											
PHF20L1	51105	broad.mit.edu	37	chr8	133829196	133829196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggagaagaagatctcAgcgtttagccaccttaccca	12	8	10	11	2	1	4	1	1	1	3	2	5	1	4	3	1	4	1	3	1	4	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr8:133829196A>C	ENST00000395386.2	+	11	1546	c.1247A>C	c.(1246-1248)cAg>cCg	p.Q416P	PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q391P|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	416							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGAAGATCTCAGCGTTTAGCC	0.453																																						uc003ytt.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1246-1248)cAg>cCg		Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.							127	99	108					8																	133829196		2203	4299	6502	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133829196A>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1247A>C	8.37:g.133829196A>C	ENSP00000378784:p.Gln416Pro					PHF20L1_uc003yts.3_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.2_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	p.Q416P	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		10	1572	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		416					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1247A>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732744	0.69189	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.56444	0.5;0.49;1.14;0.46;1.16	5.41	5.41	0.78517	.	0.180801	0.51477	D	0.000095	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.978;0.998;0.998	P;D;D	0.70935	0.792;0.971;0.929	T	0.64774	-0.6328	10	0.66056	D	0.02	-7.0882	14.9066	0.70724	1.0:0.0:0.0:0.0	.	391;416;416	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	P	420;391;416;416;286;391	ENSP00000378781:Q420P;ENSP00000355301:Q391P;ENSP00000378784:Q416P;ENSP00000324519:Q416P;ENSP00000378788:Q391P	ENSP00000324519:Q416P	Q	+	2	0	PHF20L1	133898378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.072000	0.71238	2.174000	0.68829	0.477000	0.44152	CAG		0.453	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133829196	A	C	133829196	3	2	40	1	0	0	0	0	1	0	0	0	11832	188	7	5	1291	5	PHF20L1	8	133829196	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		133829196	12534826	12	2479											
OR5D13	390142	broad.mit.edu	37	chr11	55541191	55541191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttggttgtggaatacagaaCcatctctttctctggttgca	8	15	9	9	0	2	1	0	0	2	1	4	2	2	2	1	3	3	3	1	3	3	5	rs529842639		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr11:55541191C>A	ENST00000361760.1	+	1	278	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GAATACAGAACCATCTCTTTC	0.398																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(277-279)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							192	183	186					11																	55541191		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541191C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.278C>A	11.37:g.55541191C>A	ENSP00000354800:p.Thr93Asn						p.T93N	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	278	+		all_epithelial(135;0.196)	93					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.278C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	3.100	-0.184926	0.06340	.	.	ENSG00000198877	ENST00000361760	T	0.01981	4.52	3.52	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.512698	0.14505	U	0.315464	T	0.04634	0.0126	M	0.72353	2.195	0.09310	N	1	B	0.23854	0.092	B	0.29524	0.103	T	0.21518	-1.0243	10	0.59425	D	0.04	-14.0749	11.7699	0.51951	0.0:0.622:0.378:0.0	.	93	Q8NGL4	OR5DD_HUMAN	N	93	ENSP00000354800:T93N	ENSP00000354800:T93N	T	+	2	0	OR5D13	55297767	0.000000	0.05858	0.082000	0.20525	0.017000	0.09413	-3.411000	0.00480	0.259000	0.21709	0.486000	0.48141	ACC		0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		A	55541191	C	A	55541191	3	1	40	1	0	0	0	0	1	0	0	0	11154	507	18	5	280	5	OR5D13	11	55541191	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		55541191	79465325	13	2480											
ABCC9	10060	broad.mit.edu	37	chr12	22069980	22069980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccaagccagactgacagTacttaaccaattttattgtt	12	14	6	9	0	0	2	0	1	0	1	1	2	1	2	3	0	3	2	3	0	5	6			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:22069980T>C	ENST00000261201.4	-	4	463	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	ABCC9_ENST00000261200.4_Missense_Mutation_p.Y155C|ABCC9_ENST00000345162.2_Missense_Mutation_p.Y155C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	155					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGACTGACAGTACTTAACCAA	0.388																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(463-465)tAc>tGc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						176	173	174					12																	22069980		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22069980T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.464A>G	12.37:g.22069980T>C	ENSP00000261201:p.Tyr155Cys					ABCC9_uc001rfi.1_Missense_Mutation_p.Y155C	p.Y155C	NM_020297	NP_064693	O60706	ABCC9_HUMAN			3	484	-			155					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.464A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	7.793	0.711930	0.15306	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92149	-2.97;-2.98;-2.97	5.09	5.09	0.68999	.	0.330140	0.32563	N	0.005927	D	0.90926	0.7148	L	0.57536	1.79	0.41330	D	0.987232	B;P	0.48230	0.005;0.907	B;B	0.44163	0.004;0.443	D	0.91028	0.4862	10	0.44086	T	0.13	-4.7903	14.8679	0.70430	0.0:0.0:0.0:1.0	.	155;155	O60706;O60706-2	ABCC9_HUMAN;.	C	155	ENSP00000261200:Y155C;ENSP00000261201:Y155C;ENSP00000261202:Y155C	ENSP00000261200:Y155C	Y	-	2	0	ABCC9	21961247	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	3.959000	0.56744	1.920000	0.55613	0.528000	0.53228	TAC		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		C	22069980	T	C	22069980	3	2	40	1	0	0	0	0	1	0	0	0	59	1638	57	4	4467	4	ABCC9	12	22069980	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		22069980	111781915	14	2481											
PKP2	5318	broad.mit.edu	37	chr12	33030958	33030958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgccaggaggacctggAagccctgttctgagtgacgg	8	8	15	10	1	1	3	0	3	1	0	1	6	1	6	3	4	2	1	3	4	1	1			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:33030958A>C	ENST00000070846.6	-	3	880	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	PKP2_ENST00000340811.4_Missense_Mutation_p.S286A	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	286					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAGGACCTGGAAGCCCTGTTC	0.652																																						uc001rlj.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(856-858)Tcc>Gcc		Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.							54	50	51					12																	33030958		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33030958A>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.856T>G	12.37:g.33030958A>C	ENSP00000070846:p.Ser286Ala					PKP2_uc001rlk.4_Missense_Mutation_p.S286A|PKP2_uc010skj.2_Missense_Mutation_p.S286A	p.S286A	NM_004572	NP_004563	Q99959	PKP2_HUMAN			2	971	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		286					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.856T>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.511731	0.00984	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80480	-1.38;-1.35	5.46	-6.43	0.01926	.	159.245000	0.01070	N	0.004803	T	0.68274	0.2983	L	0.42245	1.32	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.50617	-0.8807	10	0.16420	T	0.52	-2.1327	5.522	0.16938	0.4943:0.1294:0.3089:0.0675	.	286;286;286	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	A	286	ENSP00000342800:S286A;ENSP00000070846:S286A	ENSP00000070846:S286A	S	-	1	0	PKP2	32922225	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.935000	0.01550	-0.657000	0.05373	-0.340000	0.08031	TCC		0.652	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		C	33030958	A	C	33030958	3	2	40	1	0	0	0	0	1	0	0	0	11985	246	9	5	1837	5	PKP2	12	33030958	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	10960978	33030958	100820937	15	2482											
MFSD5	84975	broad.mit.edu	37	chr12	53647741	53647741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatccctgagacagagcaGgctggtgtactcaactggtt	9	10	13	9	0	1	3	1	2	0	2	2	4	2	3	1	3	3	4	1	3	2	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:53647741G>A	ENST00000329548.4	+	2	1313	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	MFSD5_ENST00000534842.1_Silent_p.Q481Q	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	374					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						AGACAGAGCAGGCTGGTGTAC	0.502																																						uc001sch.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1441-1443)caG>caA		Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.							149	138	142					12																	53647741		2203	4300	6503	SO:0001819	synonymous_variant	84975				transport	integral to membrane		g.chr12:53647741G>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.1122G>A	12.37:g.53647741G>A						MFSD5_uc001sci.2_Silent_p.Q374Q|MFSD5_uc021qye.1_Silent_p.Q374Q	p.Q481Q	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN			1	1590	+			374					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	c.1443G>A	CCDS8851.1																																																																																				0.502	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		A	53647741	G	A	53647741	2	1	40	1	0	0	0	0	0	0	0	1	9534	991	35	3		3	MFSD5	12	53647741	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08	20616783	53647741	80204154	16	2483											
GLT1D1	144423	broad.mit.edu	37	chr12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagggcacgtgtgcGttttgaaggatgcctttgac	7	11	15	8	2	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	1	3	rs146263464	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:129360490G>A	ENST00000442111.2	+	2	188	c.100G>A	c.(100-102)Gtt>Att	p.V34I	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V23I|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V34I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	34					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													G|||	2	0.000399361	0.0015	0	5008	,	,		17088	0		0	False		,,,				2504	0					uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(67-69)Gtt>Att		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	150	152	152		100	-6.6	0	12	dbSNP_134	152	13,8587	9.8+/-36.6	0,13,4287	yes	missense	GLT1D1	NM_144669.1	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	34/267	129360490	17,12989	2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360490G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.100G>A	12.37:g.129360490G>A	ENSP00000394692:p.Val34Ile					GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.V23I	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		34					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096988	0.07010	9.08E-4	0.001512	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.48201	0.83;0.82;0.92	5.54	-6.59	0.01830	.	0.750686	0.12852	N	0.433825	T	0.18215	0.0437	N	0.10685	0.025	0.26759	N	0.970033	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08146	-1.0736	10	0.29301	T	0.29	-7.2202	4.1895	0.10414	0.3051:0.1938:0.406:0.0951	.	23;34	F5H088;Q96MS3-2	.;.	I	34;34;23	ENSP00000394692:V34I;ENSP00000281703:V34I;ENSP00000438158:V23I	ENSP00000281703:V34I	V	+	1	0	GLT1D1	127926443	0.000000	0.05858	0.008000	0.14137	0.587000	0.36485	-0.806000	0.04525	-1.715000	0.01389	-1.099000	0.02127	GTT		0.473	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		A	129360490	G	A	129360490	3	1	40	1	0	0	0	0	1	0	0	0	6465	1145	40	1	106	1	GLT1D1	12	129360490	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	75712749	129360490	4491405	17	2484											
C14orf115	55237	broad.mit.edu	37	chr14	74824348	74824348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctactctcacctctgtgagCgctacagcgtcaccaaaagc	10	8	8	15	2	3	1	2	1	2	0	4	1	3	1	2	0	5	2	2	0	4	2	rs200794001		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr14:74824348C>T	ENST00000256362.4	+	2	1103	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	288					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTCTGTGAGCGCTACAGCGT	0.647																																						uc021rwl.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(862-864)Cgc>Tgc		Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.							43	42	42					14																	74824348		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824348C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.862C>T	14.37:g.74824348C>T	ENSP00000256362:p.Arg288Cys					VRTN_uc001xpw.4_Missense_Mutation_p.R288C	p.R288C	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN			0	862	+			288					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.862C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266044	0.59540	.	.	ENSG00000133980	ENST00000256362	T	0.52057	0.68	5.2	5.2	0.72013	.	0.150995	0.44097	D	0.000488	T	0.54415	0.1857	L	0.34521	1.04	0.41995	D	0.990869	D	0.76494	0.999	D	0.63033	0.91	T	0.57159	-0.7859	10	0.87932	D	0	0.8068	13.0375	0.58881	0.2225:0.7775:0.0:0.0	.	288	Q9H8Y1	VRTN_HUMAN	C	288	ENSP00000256362:R288C	ENSP00000256362:R288C	R	+	1	0	VRTN	73894101	1.000000	0.71417	0.141000	0.22245	0.716000	0.41182	2.757000	0.47557	2.704000	0.92352	0.561000	0.74099	CGC		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		T	74824348	C	T	74824348	3	4	40	1	0	0	0	0	1	0	0	0	1740	768	27	1	864	1	C14orf115	14	74824348	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		74824348	32525192	18	2485											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacactcaactctagcaCgttctaggggagaaggaagg	14	6	12	9	1	3	2	1	0	2	2	3	4	3	3	0	4	2	2	0	4	5	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:42298316C>T	ENST00000399518.3	-	4	883	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M|CTD-2382E5.2_ENST00000552704.1_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	115	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507																																						uc021sjp.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(397-399)Gtg>Atg		Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.							122	124	123					15																	42298316		2086	4226	6312	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298316C>T		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.397G>A	15.37:g.42298316C>T	ENSP00000382434:p.Val133Met						p.V133M	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	3	397	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	115			C2.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.397G>A	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298110	0.60086	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.41065	1.01;2.89	5.66	3.6	0.41247	.	0.173268	0.29286	U	0.012599	T	0.54029	0.1833	M	0.69358	2.11	0.34580	D	0.714372	D	0.61697	0.99	P	0.60117	0.869	T	0.65569	-0.6136	10	0.87932	D	0	-5.6365	7.528	0.27666	0.0:0.6507:0.0:0.3493	.	104	C9JK77	.	M	133;104	ENSP00000382434:V133M;ENSP00000413897:V104M	ENSP00000382434:V133M	V	-	1	0	PLA2G4E	40085608	0.069000	0.21087	0.786000	0.31890	0.973000	0.67179	0.254000	0.18314	0.625000	0.30304	0.563000	0.77884	GTG		0.507	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		T	42298316	C	T	42298316	3	4	40	1	0	0	0	0	1	0	0	0	12005	536	19	1	2277	1	PLA2G4E	15	42298316	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		42298316	60233076	19	2486											
DET1	55070	broad.mit.edu	37	chr15	89070986	89070986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcaatcacctctgtcGtcaccatattgtacaccaca	13	9	4	15	1	3	0	2	0	1	0	4	0	3	0	3	0	2	2	3	0	3	3	rs201960185	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:89070986G>A	ENST00000268148.8	-	3	1260	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	DET1_ENST00000444300.1_Missense_Mutation_p.T383M|DET1_ENST00000564406.1_Missense_Mutation_p.T383M	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	372						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTCTGTCGTCACCATATT	0.433													G|||	3	0.000599042	0	0	5008	,	,		20398	0.001		0.001	False		,,,				2504	0.001					uc002bmq.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1147-1149)aCg>aTg		Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.		G	MET/THR,MET/THR	0,3848		0,0,1924	61	59	59		1115,1148	5.9	1	15		59	4,8270		0,4,4133	yes	missense,missense	DET1	NM_001144074.1,NM_017996.3	81,81	0,4,6057	AA,AG,GG		0.0483,0.0,0.033	possibly-damaging,possibly-damaging	372/551,383/562	89070986	4,12118	1924	4137	6061	SO:0001583	missense	55070					nucleus		g.chr15:89070986G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1115C>T	15.37:g.89070986G>A	ENSP00000268148:p.Thr372Met					DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.T372M|DET1_uc010bnk.2_Intron	p.T383M	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	1337	-	Lung NSC(78;0.105)|all_lung(78;0.182)		372					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1148C>T	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.75	3.465555	0.63513	0.0	4.83E-4	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.150748	0.64402	D	0.000019	T	0.64046	0.2563	L	0.59436	1.845	0.40609	D	0.98165	P;P	0.48694	0.914;0.914	P;P	0.48738	0.588;0.588	T	0.67833	-0.5568	9	0.72032	D	0.01	-18.6986	16.3803	0.83458	0.0:0.1314:0.8686:0.0	.	372;383	Q7L5Y6;B3KNN6	DET1_HUMAN;.	M	383;372	.	ENSP00000268148:T372M	T	-	2	0	DET1	86871990	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.025000	0.64097	2.793000	0.96121	0.655000	0.94253	ACG		0.433	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		A	89070986	G	A	89070986	3	1	40	1	0	0	0	0	1	0	0	0	4450	1145	40	1	549	1	DET1	15	89070986	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	46772670	89070986	13460406	20	2487											
CACNA1H	8912	broad.mit.edu	37	chr16	1257299	1257299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccaggaggactggaacGtggtcctgtacaacggcatg	10	7	14	10	2	0	1	0	1	0	0	1	4	1	4	2	5	3	2	2	5	3	1			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:1257299G>A	ENST00000348261.5	+	14	3180	c.2932G>A	c.(2932-2934)Gtg>Atg	p.V978M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V978M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V978M|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	978					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGACTGGAACGTGGTCCTGTA	0.632																																						uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2932-2934)Gtg>Atg		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)						35	35	35					16																	1257299		2042	4196	6238	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1257299G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2932G>A	16.37:g.1257299G>A	ENSP00000334198:p.Val978Met					CACNA1H_uc002ckt.3_Missense_Mutation_p.V978M|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	p.V978M	NM_021098	NP_066921	O95180	CAC1H_HUMAN			13	3180	+		Hepatocellular(780;0.00369)	978					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2932G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638498	0.67130	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97404	-4.37;-4.37	3.3	3.3	0.37823	Ion transport (1);	0.407828	0.24375	N	0.039067	D	0.96116	0.8734	L	0.28344	0.845	0.32050	N	0.597093	D;D	0.89917	0.973;1.0	B;D	0.85130	0.408;0.997	D	0.94311	0.7545	10	0.51188	T	0.08	.	7.8934	0.29691	0.1153:0.0:0.8847:0.0	.	978;978	O95180-2;O95180	.;CAC1H_HUMAN	M	978	ENSP00000334198:V978M;ENSP00000351401:V978M	ENSP00000334198:V978M	V	+	1	0	CACNA1H	1197300	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.361000	0.66092	1.700000	0.51204	0.561000	0.74099	GTG		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1257299	G	A	1257299	3	1	40	1	0	0	0	0	1	0	0	0	2545	1145	40	1	2982	1	CACNA1H	16	1257299	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		1257299	89097454	21	2488											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	40	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		7578406	73616804	22	2489											
ATP6V0A1	535	broad.mit.edu	37	chr17	40646356	40646356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggtttcttcatagctccGtatactattatcacgttccc	7	18	5	11	2	3	0	2	0	1	0	5	0	5	0	2	1	2	4	2	1	5	9	rs142629560		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:40646356G>A	ENST00000343619.4	+	12	1302	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	MIR548AT_ENST00000578714.1_RNA|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Silent_p.P39P|ATP6V0A1_ENST00000537728.1_Silent_p.P350P|ATP6V0A1_ENST00000585525.1_Silent_p.P350P|ATP6V0A1_ENST00000546249.1_Silent_p.P393P|ATP6V0A1_ENST00000264649.6_Silent_p.P400P|ATP6V0A1_ENST00000393829.2_Silent_p.P393P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	393					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCATAGCTCCGTATACTATTA	0.368																																						uc002hzs.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1198-1200)ccG>ccA		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.		G	,,	5,4401	9.9+/-24.2	0,5,2198	126	116	120		1200,1179,1179	-6.1	1	17	dbSNP_134	120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP6V0A1	NM_001130020.1,NM_001130021.1,NM_005177.3	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	400/839,393/838,393/832	40646356	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40646356G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1179G>A	17.37:g.40646356G>A						ATP6V0A1_uc002hzr.3_Silent_p.P393P|ATP6V0A1_uc002hzq.3_Silent_p.P393P|ATP6V0A1_uc010wgj.2_Silent_p.P350P|ATP6V0A1_uc010wgk.2_Silent_p.P350P|ATP6V0A1_uc010cyg.3_Silent_p.P39P|ATP6V0A1_uc010wgl.2_Silent_p.P252P	p.P400P	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	11	1367	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	393					B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	c.1200G>A	CCDS45684.1																																																																																				0.368	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		A	40646356	G	A	40646356	2	1	40	1	0	0	0	0	0	0	0	1	1168	1132	40	1		1	ATP6V0A1	17	40646356	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08	33067950	40646356	40548854	23	2490											
SFRS2	6427	broad.mit.edu	37	chr17	74732284	74732284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttcaggagacttgggggGactcttcgatcgcgacctgg	6	10	14	11	3	3	1	1	0	2	1	5	5	3	2	1	5	0	0	1	5	0	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:74732284G>T	ENST00000392485.2	-	2	797	c.625C>A	c.(625-627)Ccc>Acc	p.P209T	MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.P197T|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.P209T|MFSD11_ENST00000590514.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	209	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GACTTGGGGGGACTCTTCGAT	0.537			Mis		"MDS, CLL"																																	uc002jsy.4				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(625-627)Ccc>Acc		Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.							79	84	82					17																	74732284		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732284G>T	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.625C>A	17.37:g.74732284G>T	ENSP00000376276:p.Pro209Thr					SRSF2_uc010wtg.2_Missense_Mutation_p.P197T|SRSF2_uc002jsv.3_Missense_Mutation_p.P209T|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	p.P209T	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN			1	876	-			209			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.625C>A	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004327	0.35320	.	.	ENSG00000161547	ENST00000392485;ENST00000358156;ENST00000359995	T	0.22743	1.94	5.09	5.09	0.68999	.	0.309371	0.24424	N	0.038657	T	0.25382	0.0617	M	0.64404	1.975	0.80722	D	1	B;B	0.33694	0.421;0.421	B;B	0.27608	0.059;0.081	T	0.07139	-1.0788	10	0.56958	D	0.05	.	18.4856	0.90828	0.0:0.0:1.0:0.0	.	197;209	B4DN89;Q01130	.;SRSF2_HUMAN	T	209;197;189	ENSP00000376276:P209T	ENSP00000350877:P197T	P	-	1	0	SRSF2	72243879	1.000000	0.71417	0.986000	0.45419	0.615000	0.37417	3.423000	0.52756	2.345000	0.79718	0.655000	0.94253	CCC		0.537	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		T	74732284	G	T	74732284	3	4	40	1	0	0	0	0	1	0	0	0	14175	1174	41	5	44	5	SFRS2	17	74732284	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	34085928	74732284	6462926	24	2491											
STXBP2	6813	broad.mit.edu	37	chr19	7711219	7711219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctggaccccggtcatcaagGatgtaatggaggtactgggt	9	9	15	8	1	2	0	2	0	0	0	2	3	2	3	2	6	1	3	2	6	3	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:7711219G>C	ENST00000221283.5	+	16	1472	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	STXBP2_ENST00000441779.2_Missense_Mutation_p.D492H|STXBP2_ENST00000602355.1_Missense_Mutation_p.D16H|STXBP2_ENST00000414284.2_Missense_Mutation_p.D478H	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	481					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCATCAAGGATGTAATGGA	0.677																																						uc010xjr.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1474-1476)Gat>Cat		Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.							36	29	32					19																	7711219		2202	4300	6502	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7711219G>C	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1441G>C	19.37:g.7711219G>C	ENSP00000221283:p.Asp481His					STXBP2_uc002mha.4_Missense_Mutation_p.D481H|STXBP2_uc002mhb.4_Missense_Mutation_p.D478H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	p.D492H	NM_006949	NP_008880	Q15833	STXB2_HUMAN			15	1519	+			481					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1474G>C	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738865	0.69304	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77098	-1.07;-1.07;-1.07	4.61	4.61	0.57282	.	0.147749	0.49305	D	0.000158	D	0.86418	0.5928	M	0.66560	2.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.996;0.988;0.993	D	0.88155	0.2853	10	0.87932	D	0	-3.3743	15.0115	0.71552	0.0:0.0:1.0:0.0	.	492;492;478;481	E7EQD5;B4E175;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	H	481;478;492;481	ENSP00000221283:D481H;ENSP00000409471:D478H;ENSP00000413606:D492H	ENSP00000221283:D481H	D	+	1	0	STXBP2	7617219	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	9.141000	0.94612	2.143000	0.66587	0.555000	0.69702	GAT		0.677	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		C	7711219	G	C	7711219	3	2	40	1	0	0	0	0	1	0	0	0	15352	1174	41	5	1503	5	STXBP2	19	7711219	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		7711219	51417764	25	2492											
MUC16	94025	broad.mit.edu	37	chr19	9045842	9045842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctggaaaattctgggggtCcaactgaagttacagatggt	11	11	12	7	0	1	2	0	1	1	1	3	3	3	3	2	4	2	1	2	4	5	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:9045842C>G	ENST00000397910.4	-	5	35992	c.35789G>C	c.(35788-35790)gGa>gCa	p.G11930A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11932	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGGGGGTCCAACTGAAGT	0.493																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35788-35790)gGa>gCa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							130	122	124					19																	9045842		1919	4126	6045	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045842C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35789G>C	19.37:g.9045842C>G	ENSP00000381008:p.Gly11930Ala						p.G11930A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	35993	-			11932			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35789G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	6.135	0.393165	0.11638	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	3.79	0.54	0.17163	.	.	.	.	.	T	0.02807	0.0084	N	0.19112	0.55	.	.	.	D	0.58268	0.982	P	0.52554	0.702	T	0.46190	-0.9209	8	0.87932	D	0	.	5.7513	0.18148	0.0:0.6557:0.0:0.3443	.	11930	B5ME49	.	A	11930	ENSP00000381008:G11930A	ENSP00000381008:G11930A	G	-	2	0	MUC16	8906842	0.011000	0.17503	0.000000	0.03702	0.076000	0.17211	0.350000	0.20079	0.217000	0.20800	0.555000	0.69702	GGA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9045842	C	G	9045842	3	3	40	1	0	0	0	0	1	0	0	0	9973	855	30	5	8054	5	MUC16	19	9045842	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08	1334623	9045842	50083141	26	2493											
CST9	128822	broad.mit.edu	37	chr20	23586397	23586397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actattttattattaccaccCatttcctcttcagaacacca	12	15	1	13	0	2	1	1	0	1	1	3	1	3	1	4	0	2	0	4	0	5	7			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:23586397C>T	ENST00000376971.3	-	1	116	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	35						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TATTACCACCCATTTCCTCTT	0.517																																						uc002wtl.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(103-105)atG>atA		Homo sapiens cystatin 9 (testatin) (CST9), mRNA.							178	161	167					20																	23586397		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23586397C>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.105G>A	20.37:g.23586397C>T	ENSP00000366170:p.Met35Ile						p.M35I	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			0	214	-	Colorectal(13;0.0993)		35					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.105G>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	5.971	0.363203	0.11296	.	.	ENSG00000173335	ENST00000376971	T	0.17054	2.3	3.26	-6.51	0.01878	.	4.211370	0.00744	N	0.001031	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.08055	0.003	T	0.27088	-1.0084	10	0.13853	T	0.58	.	0.2675	0.00227	0.3468:0.1402:0.2295:0.2836	.	35	Q5W186	CST9_HUMAN	I	35	ENSP00000366170:M35I	ENSP00000366170:M35I	M	-	3	0	CST9	23534397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.364000	0.00496	-2.138000	0.00808	-0.225000	0.12378	ATG		0.517	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		T	23586397	C	T	23586397	3	4	40	1	0	0	0	0	1	0	0	0	3979	594	21	3	382	3	CST9	20	23586397	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		23586397	39439123	27	2494											
NPBWR2	2832	broad.mit.edu	37	chr20	62738130	62738130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgttggcacccatcgtggGgagggagaaggagcccctgc	8	5	17	11	2	0	1	0	0	0	1	1	5	0	3	3	5	2	2	3	5	1	1			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:62738130G>A	ENST00000369768.1	-	1	394	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	19					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637																																						uc011abt.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(55-57)Ccc>Tcc		Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.							73	76	75					20																	62738130		2203	4297	6500	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62738130G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.55C>T	20.37:g.62738130G>A	ENSP00000358783:p.Pro19Ser						p.P19S	NM_005286	NP_005277	P48146	NPBW2_HUMAN			0	55	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		19					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.55C>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	G	5.671	0.308445	0.10733	.	.	ENSG00000125522	ENST00000369768	T	0.72051	-0.62	2.75	-5.51	0.02568	.	2.003320	0.03896	U	0.279521	T	0.49355	0.1552	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	10	0.19590	T	0.45	.	8.9209	0.35610	0.0:0.1031:0.5679:0.3289	.	19	P48146	NPBW2_HUMAN	S	19	ENSP00000358783:P19S	ENSP00000358783:P19S	P	-	1	0	NPBWR2	62208574	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.219000	0.01218	-1.509000	0.01798	-0.856000	0.03024	CCC		0.637	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		A	62738130	G	A	62738130	3	1	40	1	0	0	0	0	1	0	0	0	10569	1232	43	3	949	3	NPBWR2	20	62738130	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	39151733	62738130	287390	28	2495											
CXorf23	256643	broad.mit.edu	37	chrX	19968977	19968977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttggatctattatttTgatcagagtctgaggaattt	10	18	9	4	0	4	3	2	2	2	1	4	5	4	5	0	2	0	0	0	2	3	6			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chrX:19968977T>G	ENST00000379682.4	-	7	1672	c.1639A>C	c.(1639-1641)Aaa>Caa	p.K547Q	CXorf23_ENST00000379687.3_Missense_Mutation_p.K547Q|CXorf23_ENST00000356980.3_Missense_Mutation_p.K547Q			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	547						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTATTATTTTGATCAGAGTC	0.363																																						uc004czp.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(1639-1641)Aaa>Caa		Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.							192	144	160					X																	19968977		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19968977T>G	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1639A>C	X.37:g.19968977T>G	ENSP00000369004:p.Lys547Gln					CXorf23_uc011mjg.2_Missense_Mutation_p.K112Q|CXorf23_uc004czo.3_Missense_Mutation_p.K497Q	p.K547Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			6	1639	-			547					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1639A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.07|19.07	3.755088|3.755088	0.69648|0.69648	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.27720|.	1.65;1.65;1.65|.	5.35|5.35	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.55743|0.55743	1.74|1.74	0.26895|0.26895	N|N	0.967244|0.967244	D;D;D|.	0.63046|.	0.986;0.992;0.992|.	P;P;P|.	0.59948|.	0.812;0.866;0.866|.	T|T	0.32666|0.32666	-0.9898|-0.9898	8|5	.|.	.|.	.|.	.|.	7.8664|7.8664	0.29539|0.29539	0.0:0.0:0.2071:0.7929|0.0:0.0:0.2071:0.7929	.|.	258;547;547|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	Q|P	547;547;547;435|155	ENSP00000369009:K547Q;ENSP00000369004:K547Q;ENSP00000349470:K547Q|.	.|.	K|Q	-|-	1|2	0|0	CXorf23|CXorf23	19878898|19878898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.822000|2.822000	0.48073|0.48073	1.900000|1.900000	0.55004|0.55004	0.486000|0.486000	0.48141|0.48141	AAA|CAA		0.363	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		G	19968977	T	G	19968977	3	3	40	1	0	0	0	0	1	0	0	0	4103	1821	63	5	429	5	CXorf23	23	19968977	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		19968977	135301583	29	2496											
MECR	51102	broad.mit.edu	37	chr1	29557372	29557372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcagcccccgccacTgccgggcgggggttcgcacc	4	4	16	17	4	0	0	0	0	0	0	1	1	0	1	5	4	3	3	5	4	0	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:29557372T>G	ENST00000263702.6	-	1	72	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	16					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCCCCGCCACTGCCGGGCGGG	0.692																																						uc001brq.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(46-48)cAg>cCg		Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							8	13	12					1																	29557372		2026	4060	6086	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29557372T>G		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.47A>C	1.37:g.29557372T>G	ENSP00000263702:p.Gln16Pro					MECR_uc001brp.1_5'UTR|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.Q16P	p.Q16P	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	0	83	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	16					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.47A>C	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	T	9.894	1.205119	0.22205	.	.	ENSG00000116353	ENST00000263702	T	0.03386	3.95	4.91	-0.197	0.13228	.	1.793320	0.03320	N	0.191820	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44205	-0.9343	9	.	.	.	.	2.8573	0.05576	0.4955:0.0:0.1808:0.3238	.	16	Q9BV79	MECR_HUMAN	P	16	ENSP00000263702:Q16P	.	Q	-	2	0	MECR	29429959	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.096000	0.11059	0.073000	0.16731	-0.302000	0.09304	CAG		0.692	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		G	29557372	T	G	29557372	3	3	41	1	0	0	0	0	1	0	0	0	9424	1580	55	5	1114	5	MECR	1	29557372	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		29557372	219693249	1	2497											
FOXJ3	22887	broad.mit.edu	37	chr1	42657151	42657151	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaacgctgcggatgctGcggtaaaccatgcggtcgat	8	8	16	9	5	0	0	0	0	0	0	1	3	0	2	1	5	6	3	1	5	3	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:42657151G>A	ENST00000372572.1	-	11	1485	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.Q392*|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.Q392*|FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.Q392*|FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.Q358*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	392					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCGGATGCTGCGGTAAACCA	0.592																																						uc001che.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1174-1176)Cag>Tag		Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.							394	304	334					1																	42657151		2203	4300	6503	SO:0001587	stop_gained	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42657151G>A	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1174C>T	1.37:g.42657151G>A	ENSP00000361653:p.Gln392*					FOXJ3_uc001chf.3_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chh.2_Nonsense_Mutation_p.Q358*|FOXJ3_uc001chg.3_Nonsense_Mutation_p.Q392*	p.Q392*	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN			10	1486	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	392					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Nonsense_Mutation	SNP	ENST00000372572.1	37	c.1174C>T	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	37	6.560804	0.97663	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	.	.	.	5.16	5.16	0.70880	.	2.231910	0.02110	N	0.054689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	16.4865	0.84185	0.0:0.0:1.0:0.0	.	.	.	.	X	392;392;392;358;392;358	.	ENSP00000354620:Q392X	Q	-	1	0	FOXJ3	42429738	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.618000	0.83043	2.569000	0.86673	0.555000	0.69702	CAG		0.592	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42657151	G	A	42657151	4	1	41	1	0	0	0	0	0	1	0	0	6013	1328	46	3	714	3	FOXJ3	1	42657151	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	13099779	42657151	206593470	2	2498											
ELTD1	64123	broad.mit.edu	37	chr1	79403509	79403509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctatatccgttgaatttGtatcaaactctgtggtcttt	9	18	6	8	1	3	1	1	1	2	0	4	1	4	1	2	1	2	2	2	1	6	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:79403509G>T	ENST00000370742.3	-	6	806	c.743C>A	c.(742-744)aCa>aAa	p.T248K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	248					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGTTGAATTTGTATCAAACTC	0.378																																						uc001diq.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(742-744)aCa>aAa		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							163	150	154					1																	79403509		1828	4082	5910	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403509G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.743C>A	1.37:g.79403509G>T	ENSP00000359778:p.Thr248Lys						p.T248K	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	5	899	-			248					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.743C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	3.395	-0.123534	0.06795	.	.	ENSG00000162618	ENST00000370742	T	0.09630	2.96	5.79	3.69	0.42338	Domain of unknown function DUF3497 (1);	0.471455	0.25807	N	0.028161	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.31256	0.316	B	0.37833	0.259	T	0.38243	-0.9670	9	.	.	.	.	7.1395	0.25548	0.3627:0.0:0.6373:0.0	.	248	Q9HBW9	ELTD1_HUMAN	K	248	ENSP00000359778:T248K	.	T	-	2	0	ELTD1	79176097	0.774000	0.28592	0.831000	0.32960	0.661000	0.39034	3.027000	0.49697	1.413000	0.46997	0.557000	0.71058	ACA		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		T	79403509	G	T	79403509	3	4	41	1	0	0	0	0	1	0	0	0	5084	1377	48	5	1369	5	ELTD1	1	79403509	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	36746358	79403509	169847112	3	2499											
LCE1F	353137	broad.mit.edu	37	chr1	152749095	152749095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagccaccacagacggcGtaggtcccaccgccacagac	10	3	10	18	3	0	3	0	1	0	2	1	3	1	3	6	2	1	1	6	2	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:152749095G>A	ENST00000334371.2	+	1	248	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGACGGCGTAGGTCCCAC	0.706																																						uc010pdv.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(247-249)cGt>cAt		Homo sapiens late cornified envelope 1F (LCE1F), mRNA.							22	26	25					1																	152749095		2203	4299	6502	SO:0001583	missense	353137				keratinization			g.chr1:152749095G>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.248G>A	1.37:g.152749095G>A	ENSP00000334187:p.Arg83His						p.R83H	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	248	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.248G>A	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873176	0.17322	.	.	ENSG00000240386	ENST00000334371	T	0.04406	3.63	4.45	2.56	0.30785	.	0.268702	0.18250	N	0.146987	T	0.00936	0.0031	N	0.10916	0.065	0.22511	N	0.999032	B	0.15141	0.012	B	0.10450	0.005	T	0.47686	-0.9098	10	0.87932	D	0	.	6.9492	0.24536	0.2109:0.0:0.7891:0.0	.	83	Q5T754	LCE1F_HUMAN	H	83	ENSP00000334187:R83H	ENSP00000334187:R83H	R	+	2	0	LCE1F	151015719	0.006000	0.16342	0.990000	0.47175	0.401000	0.30781	-0.073000	0.11468	0.600000	0.29862	0.557000	0.71058	CGT		0.706	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		A	152749095	G	A	152749095	3	1	41	1	0	0	0	0	1	0	0	0	8664	1145	40	1	250	1	LCE1F	1	152749095	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	73345586	152749095	96501526	4	2500											
TOMM40L	84134	broad.mit.edu	37	chr1	161198259	161198259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgtgggatcaggcgggGcccatgcaagttactaccac	10	8	13	10	1	1	1	1	1	0	0	1	2	1	2	2	4	3	2	2	4	4	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:161198259G>A	ENST00000367988.3	+	8	918	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	TOMM40L_ENST00000367987.1_Missense_Mutation_p.A217T|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.A183T|NR1I3_ENST00000479324.1_5'Flank	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	217					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCAGGCGGGGCCCATGCAAG	0.488																																						uc001fzd.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(649-651)Gcc>Acc		Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.							75	63	67					1																	161198259		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198259G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.649G>A	1.37:g.161198259G>A	ENSP00000356967:p.Ala217Thr					TOMM40L_uc010pkl.1_Missense_Mutation_p.A183T|TOMM40L_uc009wue.3_Missense_Mutation_p.A99T|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.A217T	p.A217T	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	878	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		217					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.649G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272547	0.40194	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.48522	0.81;0.81;0.81	5.64	3.78	0.43462	.	0.103470	0.64402	D	0.000003	T	0.41650	0.1168	M	0.64404	1.975	0.38910	D	0.957503	P;B;P	0.47191	0.891;0.302;0.891	P;B;P	0.52424	0.698;0.166;0.698	T	0.42378	-0.9455	9	0.44086	T	0.13	-16.2958	10.6568	0.45680	0.1546:0.0:0.8454:0.0	.	183;99;217	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	T	217;183;119;217	ENSP00000356967:A217T;ENSP00000443233:A183T;ENSP00000356966:A217T	ENSP00000356966:A217T	A	+	1	0	TOMM40L	159464883	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	6.595000	0.74109	0.858000	0.35431	-0.781000	0.03364	GCC		0.488	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		A	161198259	G	A	161198259	3	1	41	1	0	0	0	0	1	0	0	0	16356	1203	42	3	675	3	TOMM40L	1	161198259	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8449164	161198259	88052362	5	2501											
FMOD	2331	broad.mit.edu	37	chr1	203316988	203316988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggtgatctggttgccGtggagagcaatccagagcag	9	9	14	9	1	2	3	1	1	1	2	3	4	3	3	2	3	3	3	2	3	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:203316988G>A	ENST00000354955.4	-	2	874	c.411C>T	c.(409-411)caC>caT	p.H137H	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	137					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557																																						uc001gzr.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(409-411)caC>caT		Homo sapiens fibromodulin (FMOD), mRNA.							95	84	88					1																	203316988		2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316988G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.411C>T	1.37:g.203316988G>A							p.H137H	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		1	547	-			137					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.411C>T	CCDS30976.1																																																																																				0.557	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		A	203316988	G	A	203316988	2	1	41	1	0	0	0	0	0	0	0	1	5959	1136	40	1		1	FMOD	1	203316988	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	42118729	203316988	45933633	6	2502											
C1orf107	27042	broad.mit.edu	37	chr1	210008454	210008454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgaacaaagaactgaaAgaaaaagcaattcaggctgt	19	7	9	6	0	1	4	1	2	0	2	1	4	1	4	0	1	3	2	0	1	7	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:210008454A>G	ENST00000491415.2	+	5	654	c.597A>G	c.(595-597)aaA>aaG	p.K199K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	199					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGAACTGAAAGAAAAAGCAA	0.403																																						uc001hhr.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(595-597)aaA>aaG		Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.							121	114	116					1																	210008454		2203	4300	6503	SO:0001819	synonymous_variant	27042				multicellular organismal development	nucleus		g.chr1:210008454A>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.597A>G	1.37:g.210008454A>G						DIEXF_uc009xcu.2_5'UTR	p.K199K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN			4	694	+			199					O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	c.597A>G	CCDS1493.1																																																																																				0.403	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		G	210008454	A	G	210008454	2	3	41	1	0	0	0	0	0	0	0	1	1981	69	3	4		4	C1orf107	1	210008454	Silent	SNP	A	TCGA-06-0192-01B-01W-0348-08	6691466	210008454	39242167	7	2503											
CHRM3	1131	broad.mit.edu	37	chr1	240071276	240071276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcacgaggccgctcacGtaccgagccaaacgaacaac	13	4	8	16	5	2	0	2	0	0	0	3	3	3	0	4	1	5	2	4	1	4	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:240071276G>A	ENST00000255380.4	+	5	1304	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	175					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGCCGCTCACGTACCGAGCCA	0.507																																						uc021plc.1																			0		p.T175M(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(523-525)acG>acA		Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						147	148	148					1																	240071276		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071276G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.525G>A	1.37:g.240071276G>A						CHRM3_uc001hyp.3_Silent_p.T175T	p.T175T	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		0	525	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	175					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.525G>A	CCDS1616.1																																																																																				0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		A	240071276	G	A	240071276	2	1	41	1	0	0	0	0	0	0	0	1	3378	1132	40	1		1	CHRM3	1	240071276	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	30062822	240071276	9179345	8	2504											
OR2T3	343173	broad.mit.edu	37	chr1	248637245	248637245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcctgctctgacgtctcCctctataagacgctcatgta	7	13	6	15	2	5	2	1	1	4	1	7	2	5	2	2	0	1	3	2	0	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:248637245C>T	ENST00000359594.2	+	1	619	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGACGTCTCCCTCTATAAGA	0.522																																						uc001iel.1																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(592-594)tcC>tcT		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.							179	145	156					1																	248637245		2135	4243	6378	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637245C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.594C>T	1.37:g.248637245C>T							p.S198S	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	594	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		198					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.594C>T	CCDS31117.1																																																																																				0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		T	248637245	C	T	248637245	2	4	41	1	0	0	0	0	0	0	0	1	11023	610	22	3		3	OR2T3	1	248637245	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	8565969	248637245	613376	9	2505											
HPCAL1	3241	broad.mit.edu	37	chr2	10560060	10560060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacttcttcccctacggCgacgcttccaagttcgccga	7	9	8	17	5	1	0	0	0	1	0	4	2	3	0	5	1	2	2	5	1	3	5	rs142524922		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:10560060C>T	ENST00000381765.3	+	4	703	c.177C>T	c.(175-177)ggC>ggT	p.G59G	HPCAL1_ENST00000307845.3_Silent_p.G59G	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	59					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCCCCTACGGCGACGCTTCCA	0.602																																					Pancreas(70;1384 1800 31595 46836)	uc002raj.3																			0		p.G59S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(175-177)ggC>ggT		Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	111	88	96		177,177	-0.6	1	2	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPCAL1	NM_002149.2,NM_134421.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	59/194,59/194	10560060	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3241						calcium ion binding	g.chr2:10560060C>T		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"EF-hand domain containing"	5145	protein-coding gene	gene with protein product	"visinin-like protein 3", "calcium-binding protein BDR-1"	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.177C>T	2.37:g.10560060C>T						HPCAL1_uc002ral.3_Silent_p.G59G|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.G59G	p.G59G	NM_002149	NP_602293	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	2	551	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59					Q969S5	Silent	SNP	ENST00000381765.3	37	c.177C>T	CCDS1671.1																																																																																				0.602	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		T	10560060	C	T	10560060	2	4	41	1	0	0	0	0	0	0	0	1	7330	755	27	1		1	HPCAL1	2	10560060	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08		10560060	232639313	10	2506											
IWS1	55677	broad.mit.edu	37	chr2	128262546	128262547	+	Frame_Shift_Ins	INS	-	-	G																															cagtttctgagtcactggcaINSggccccttctgaggcccctc																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:128262546_128262547insG	ENST00000295321.4	-	3	1191_1192	c.932_933insC	c.(931-933)cctfs	p.P311fs	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Frame_Shift_Ins_p.P318fs	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	311	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCAGGCCCCTTCTG	0.54																																						uc002ton.2																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(931-933)cctfs		Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.																																				SO:0001589	frameshift_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262546_128262547insG	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.933dupC	2.37:g.128262548_128262548dupG	ENSP00000295321:p.Pro311fs					IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	p.P311fs	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	2	1235_1236	-	Colorectal(110;0.1)		311			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Frame_Shift_Ins	INS	ENST00000295321.4	37	c.932_933insC	CCDS2146.1																																																																																				0.54	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		G	128262547	-	G	128262546	7	5	41	1	0	1	1	0	0	0	0	0	7931	175	7	0	1574	0	IWS1	2	128262546	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08	117702486	128262546	114936827	11	2507											
FAM123C	205147	broad.mit.edu	37	chr2	131521170	131521170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatcaccatgggcatcGtcagctggctgcgccgaggc	6	7	13	15	4	2	0	2	0	0	0	4	1	2	0	3	3	2	3	3	3	0	0	rs369736958		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:131521170G>A	ENST00000423981.1	+	2	1635	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	AMER3_ENST00000321420.4_Missense_Mutation_p.V509I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	509					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CATGGGCATCGTCAGCTGGCT	0.677																																						uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1525-1527)Gtc>Atc		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4380		0,0,2190	12	12	12		1525,1525,1525,1525	2.5	1	2		12	1,8565		0,1,4282	no	missense,missense,missense,missense	FAM123C	NM_152698.2,NM_001105195.1,NM_001105194.1,NM_001105193.1	29,29,29,29	0,1,6472	AA,AG,GG		0.0117,0.0,0.0077	benign,benign,benign,benign	509/862,509/862,509/862,509/862	131521170	1,12945	2190	4283	6473	SO:0001583	missense	205147							g.chr2:131521170G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1525G>A	2.37:g.131521170G>A	ENSP00000392700:p.Val509Ile					FAM123C_uc002trw.2_Missense_Mutation_p.V509I|FAM123C_uc010fmv.2_Missense_Mutation_p.V509I|FAM123C_uc010fms.1_Missense_Mutation_p.V509I|FAM123C_uc010fmt.1_Missense_Mutation_p.V509I|FAM123C_uc010fmu.1_Missense_Mutation_p.V509I	p.V509I	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1525	+	Colorectal(110;0.1)		509					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1525G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639127	0.03557	0.0	1.17E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.41065	1.01;1.01	4.69	2.54	0.30619	.	0.132495	0.33327	N	0.005040	T	0.15305	0.0369	N	0.04203	-0.255	0.27241	N	0.959135	B	0.17038	0.02	B	0.11329	0.006	T	0.29518	-1.0009	10	0.06494	T	0.89	.	6.2522	0.20852	0.4104:0.0:0.5896:0.0	.	509	Q8N944	F123C_HUMAN	I	509	ENSP00000314914:V509I;ENSP00000392700:V509I	ENSP00000314914:V509I	V	+	1	0	FAM123C	131237640	0.882000	0.30256	0.980000	0.43619	0.851000	0.48451	1.313000	0.33585	0.365000	0.24400	0.561000	0.74099	GTC		0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131521170	G	A	131521170	3	1	41	1	0	0	0	0	1	0	0	0	5424	1145	40	1	1527	1	FAM123C	2	131521170	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	3258624	131521170	111678203	12	2508											
HECW2	57520	broad.mit.edu	37	chr2	197183877	197183877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaagtccctgtgtctgcGccacttgtgggctgatctac	5	12	12	12	2	2	1	0	1	2	0	4	2	3	2	2	2	2	1	2	2	2	2	rs111271189	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:197183877G>A	ENST00000260983.3	-	9	1919	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	HECW2_ENST00000409111.1_Silent_p.G223G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	579					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTGTCTGCGCCACTTGTGG	0.607																																						uc002utm.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1735-1737)ggC>ggT		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.		C		2,4404		0,2,2201	53	47	49		1737	-1.2	0.8	2	dbSNP_132	49	1,8599		0,1,4299	yes	coding-synonymous	HECW2	NM_020760.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		579/1573	197183877	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183877G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1737C>T	2.37:g.197183877G>A						HECW2_uc002utl.1_Silent_p.G223G	p.G579G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			8	1920	-			579					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1737C>T	CCDS33354.1																																																																																				0.607	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		A	197183877	G	A	197183877	2	1	41	1	0	0	0	0	0	0	0	1	7043	1074	38	1		1	HECW2	2	197183877	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	65662707	197183877	46015496	13	2509											
ALS2CR12	130540	broad.mit.edu	37	chr2	202154207	202154207	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttctcttccgtcaggAtctgtatggtgtgcttatac	7	16	10	8	1	3	0	1	0	2	0	5	2	4	1	1	2	2	3	1	2	4	5			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:202154207A>C	ENST00000286190.5	-	13	1230	c.1184T>G	c.(1183-1185)aTc>aGc	p.I395S	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.I372S|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.I372S|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.I395S			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	395					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTCCGTCAGGATCTGTATGGT	0.413																																						uc010ftg.3																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1183-1185)aTc>aGc		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.							155	155	155					2																	202154207		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202154207A>C	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1184T>G	2.37:g.202154207A>C	ENSP00000286190:p.Ile395Ser					ALS2CR12_uc002uya.4_Missense_Mutation_p.I372S|ALS2CR12_uc010fth.3_Non-coding_Transcript	p.I395S	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			13	1628	-			395					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.1184T>G	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	A	1.431	-0.570114	0.03910	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.42131	0.98;0.98;1.07;1.07	4.7	-9.41	0.00613	.	1.912250	0.02452	N	0.085654	T	0.17238	0.0414	N	0.14661	0.345	0.09310	N	1	B;B	0.17268	0.021;0.005	B;B	0.10450	0.005;0.005	T	0.11641	-1.0579	10	0.18710	T	0.47	5.7053	0.6198	0.00776	0.184:0.1937:0.2224:0.3999	.	395;372	Q96Q35;G5E9S3	AL2SB_HUMAN;.	S	395;395;372;372	ENSP00000286190:I395S;ENSP00000385098:I395S;ENSP00000376086:I372S;ENSP00000412073:I372S	ENSP00000286190:I395S	I	-	2	0	ALS2CR12	201862452	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.930000	0.03972	-1.201000	0.02659	-0.379000	0.06801	ATC		0.413	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		C	202154207	A	C	202154207	3	2	41	1	0	0	0	0	1	0	0	0	553	333	12	5	161	5	ALS2CR12	2	202154207	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4970330	202154207	41045166	14	2510											
TRPM8	79054	broad.mit.edu	37	chr2	234869620	234869620	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataatgatgccctcctCacgtttgtctggaaactggt	8	14	8	11	1	2	1	1	1	1	0	4	2	4	2	3	2	2	1	3	2	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:234869620C>A	ENST00000324695.4	+	12	1603	c.1563C>A	c.(1561-1563)ctC>ctA	p.L521L	TRPM8_ENST00000433712.2_Silent_p.L209L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	521					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGCCCTCCTCACGTTTGTCT	0.507																																						uc002vvh.3																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1561-1563)ctC>ctA		Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	Menthol(DB00825)						105	90	95					2																	234869620		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234869620C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1563C>A	2.37:g.234869620C>A						TRPM8_uc010fyj.3_Silent_p.L209L	p.L521L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	11	1603	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	521					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.1563C>A	CCDS33407.1																																																																																				0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		A	234869620	C	A	234869620	2	1	41	1	0	0	0	0	0	0	0	1	16589	813	29	5		5	TRPM8	2	234869620	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	32715413	234869620	8329753	15	2511											
GOLGA4	2803	broad.mit.edu	37	chr3	37369037	37369037	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgaaaaattacaggcttTacaacagatggatggaagaa	19	9	9	4	0	0	3	0	1	0	2	0	5	0	5	0	3	3	1	0	3	8	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:37369037T>G	ENST00000361924.2	+	14	6034	c.5660T>G	c.(5659-5661)tTa>tGa	p.L1887*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.L1909*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1887	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTACAGGCTTTACAACAGATG	0.353																																						uc003cgv.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5659-5661)tTa>tGa		Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.							65	68	67					3																	37369037		2203	4300	6503	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37369037T>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5660T>G	3.37:g.37369037T>G	ENSP00000354486:p.Leu1887*					GOLGA4_uc010hgr.2_Nonsense_Mutation_p.L1448*|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.L1909*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.L1768*	p.L1887*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			13	6020	+			1887			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.5660T>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	T	46	12.843945	0.99700	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.97	0.745	0.18359	.	0.742820	0.10468	N	0.671199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.6175	0.39701	0.0:0.2505:0.0:0.7495	.	.	.	.	X	1887;1909;1758	.	ENSP00000349305:L1909X	L	+	2	0	GOLGA4	37344041	0.012000	0.17670	0.080000	0.20451	0.985000	0.73830	1.815000	0.38981	0.243000	0.21327	0.523000	0.50628	TTA		0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		G	37369037	T	G	37369037	4	3	41	1	0	0	0	0	0	1	0	0	6555	1764	61	5	5784	5	GOLGA4	3	37369037	Nonsense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		37369037	160653393	16	2512											
ATP13A4	84239	broad.mit.edu	37	chr3	193160209	193160209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatacataatgtgtttcttCtcttctactaacgtccaaga	11	15	4	11	1	3	1	0	0	3	1	5	1	4	1	2	0	3	1	2	0	5	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:193160209C>T	ENST00000342695.4	-	19	2611	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	ATP13A4_ENST00000392443.3_Silent_p.E744E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	763						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTGTTTCTTCTCTTCTACTA	0.433																																						uc003ftd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2287-2289)gaG>gaA		Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.							167	146	153					3																	193160209		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193160209C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2289G>A	3.37:g.193160209C>T						ATP13A4_uc003fte.1_Silent_p.E763E|ATP13A4_uc011bsr.1_Silent_p.E234E|ATP13A4_uc010hzi.3_Non-coding_Transcript	p.E763E	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2397	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		763					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2289G>A	CCDS3304.2																																																																																				0.433	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		T	193160209	C	T	193160209	2	4	41	1	0	0	0	0	0	0	0	1	1126	912	32	3		3	ATP13A4	3	193160209	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	155791172	193160209	4862221	17	2513											
TMEM174	134288	broad.mit.edu	37	chr5	72469988	72469988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatatactctctccctcGctagaggctattctgatata	12	13	6	10	1	2	3	0	1	2	2	5	3	3	3	1	1	1	2	1	1	7	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:72469988G>A	ENST00000296776.5	+	2	777	c.728G>A	c.(727-729)cGc>cAc	p.R243H	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	243						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCTCTCCCTCGCTAGAGGCTA	0.478																																						uc010izc.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(727-729)cGc>cAc		Homo sapiens transmembrane protein 174 (TMEM174), mRNA.							81	82	82					5																	72469988		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469988G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.728G>A	5.37:g.72469988G>A	ENSP00000296776:p.Arg243His						p.R243H	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	776	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	243					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.728G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389389	0.25118	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.24	3.46	0.39613	.	0.557203	0.19539	N	0.111841	T	0.47135	0.1429	M	0.67953	2.075	0.33373	D	0.573845	B	0.18310	0.027	B	0.14578	0.011	T	0.56068	-0.8040	9	0.87932	D	0	-16.039	5.6435	0.17577	0.1754:0.1752:0.6493:0.0	.	243	Q8WUU8	TM174_HUMAN	H	243	.	ENSP00000296776:R243H	R	+	2	0	TMEM174	72505744	0.004000	0.15560	1.000000	0.80357	0.164000	0.22412	-0.713000	0.05007	0.787000	0.33731	-0.140000	0.14226	CGC		0.478	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		A	72469988	G	A	72469988	3	1	41	1	0	0	0	0	1	0	0	0	16087	1087	38	1	734	1	TMEM174	5	72469988	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		72469988	108445272	18	2514											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768990	140768990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggagagcggggtggtgttCgcgcagcgcgccttcgacca	5	6	18	12	7	0	1	0	0	0	1	2	3	0	1	2	4	2	2	2	4	0	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:140768990C>T	ENST00000519479.1	+	1	1539	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTGTTCGCGCAGCGCG	0.667																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1537-1539)ttC>ttT		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							48	54	52					5																	140768990		2045	4180	6225	SO:0001819	synonymous_variant	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768990C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1539C>T	5.37:g.140768990C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.F513F	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1539	+			517			Cadherin 5.		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1539C>T	CCDS54928.1																																																																																				0.667	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140768990	C	T	140768990	2	4	41	1	0	0	0	0	0	0	0	1	11565	883	31	2		2	PCDHGB4	5	140768990	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	68299002	140768990	40146270	19	2515											
WWC1	23286	broad.mit.edu	37	chr5	167868746	167868746	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggagaggtcgactcgctgGtacaaccttctcagctacaa	10	8	12	11	2	1	1	1	0	1	1	4	3	1	1	1	4	4	3	1	4	4	3	rs148699341		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:167868746G>A	ENST00000265293.4	+	16	2842	c.2340G>A	c.(2338-2340)tgG>tgA	p.W780*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.W780*|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	780	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGACTCGCTGGTACAACCTTC	0.602																																						uc003lzu.3																			0		p.W780*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2338-2340)tgG>tgA		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.							51	51	51					5																	167868746		2203	4300	6503	SO:0001587	stop_gained	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167868746G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2340G>A	5.37:g.167868746G>A	ENSP00000265293:p.Trp780*					WWC1_uc003lzv.3_Nonsense_Mutation_p.W780*|WWC1_uc011den.2_Nonsense_Mutation_p.W780*|WWC1_uc003lzw.3_Nonsense_Mutation_p.W579*|WWC1_uc010jjf.1_Nonsense_Mutation_p.W47*	p.W780*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	15	2433	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	780			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	c.2340G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.949501|7.949501	0.98577|0.98577	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.337998	.|0.31188	.|N	.|0.008094	T|.	0.38108|.	0.1028|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31138|.	-0.9954|.	3|.	.|0.02654	.|T	.|1	.|.	15.9364|15.9364	0.79712|0.79712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	I|X	742;557|780;780;106	.|.	.|ENSP00000265293:W780X	V|W	+|+	1|3	0|0	WWC1|WWC1	167801324|167801324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.306000|6.306000	0.72810|0.72810	2.497000|2.497000	0.84241|0.84241	0.456000|0.456000	0.33151|0.33151	GTA|TGG		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		A	167868746	G	A	167868746	4	1	41	1	0	0	0	0	0	1	0	0	17408	1270	44	3	2402	3	WWC1	5	167868746	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	27099756	167868746	13046514	20	2516											
OR2B2	81697	broad.mit.edu	37	chr6	27879956	27879956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaatccacatgtgacaCaagaattattgtcagattgc	14	13	7	7	0	1	4	1	2	0	2	2	4	2	4	1	0	1	0	1	0	4	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:27879956C>T	ENST00000303324.2	-	1	218	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ACATGTGACACAAGAATTATT	0.388																																						uc011dkw.2																			0		p.V48E(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(142-144)Gtg>Atg		Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.							113	111	111					6																	27879956		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879956C>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.142G>A	6.37:g.27879956C>T	ENSP00000304419:p.Val48Met						p.V48M	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			0	219	-			48					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.142G>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	6.332	0.429270	0.11987	.	.	ENSG00000168131	ENST00000303324	T	0.03094	4.05	4.37	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.489152	0.14999	N	0.286208	T	0.02494	0.0076	M	0.82630	2.6	0.09310	N	1	P	0.39940	0.696	B	0.36766	0.232	T	0.30822	-0.9965	10	0.72032	D	0.01	.	8.0989	0.30846	0.0:0.7457:0.1607:0.0936	.	48	Q9GZK3	OR2B2_HUMAN	M	48	ENSP00000304419:V48M	ENSP00000304419:V48M	V	-	1	0	OR2B2	27987935	0.000000	0.05858	0.030000	0.17652	0.071000	0.16799	-1.297000	0.02759	0.509000	0.28195	0.563000	0.77884	GTG		0.388	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			T	27879956	C	T	27879956	3	4	41	1	0	0	0	0	1	0	0	0	10989	478	17	3	935	3	OR2B2	6	27879956	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		27879956	143235111	21	2517											
MAS1L	116511	broad.mit.edu	37	chr6	29455605	29455605	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagacaaaggctacatgaGagagatatctgtgactcagc	14	8	12	7	0	2	4	1	2	1	3	2	7	2	4	0	2	2	1	0	2	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29455605G>C	ENST00000377127.3	-	1	133	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	25					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGCTACATGAGAGAGATATCT	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(73-75)ctC>ctG		Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.							78	79	79					6																	29455605		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455605G>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.75C>G	6.37:g.29455605G>C							p.L25L	NM_052967	NP_443199	P35410	MAS1L_HUMAN			0	75	-			25					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.75C>G	CCDS4661.1																																																																																				0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		C	29455605	G	C	29455605	2	2	41	1	0	0	0	0	0	0	0	1	9321	929	33	5		5	MAS1L	6	29455605	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	1575649	29455605	141659462	22	2518											
HLA-F	3134	broad.mit.edu	37	chr6	29691648	29691648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgccaaggccaacgcacAgactgaccgagtggccctga	11	4	12	14	3	0	3	0	2	0	1	0	4	0	3	4	2	2	2	4	2	3	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29691648A>G	ENST00000376861.1	+	3	662	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	HLA-F_ENST00000434407.2_Missense_Mutation_p.Q93R|HLA-F_ENST00000259951.7_Missense_Mutation_p.Q93R|HLA-F_ENST00000334668.4_Missense_Mutation_p.Q93R|HLA-F_ENST00000440587.2_5'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	93	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCAACGCACAGACTGACCGA	0.682																																						uc003nno.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(277-279)cAg>cGg		Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.							15	16	15					6																	29691648		1505	2703	4208	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29691648A>G	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.278A>G	6.37:g.29691648A>G	ENSP00000366057:p.Gln93Arg					HLA-F_uc010jrl.3_Missense_Mutation_p.Q93R|HLA-F_uc003nnm.4_Missense_Mutation_p.Q93R|HLA-F_uc011dlx.1_Missense_Mutation_p.Q93R|HLA-F_uc011dly.1_Non-coding_Transcript	p.Q93R	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			1	402	+			93			Alpha-1.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.278A>G	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.601105	0.28534	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	1.63	0.241	0.15494	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.261650	0.06497	N	0.735690	T	0.02342	0.0072	M	0.92077	3.27	0.21105	N	0.999788	B;P;B;P	0.40834	0.007;0.73;0.0;0.683	B;P;B;P	0.59889	0.034;0.684;0.0;0.865	T	0.18272	-1.0342	10	0.87932	D	0	.	5.4403	0.16504	0.8042:0.0:0.1958:0.0	.	93;93;93;93	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	R	93;93;70;93;93;93;93	ENSP00000366057:Q93R;ENSP00000389590:Q93R;ENSP00000334263:Q93R;ENSP00000259951:Q93R;ENSP00000397376:Q93R	ENSP00000259951:Q93R	Q	+	2	0	HLA-F	29799627	0.003000	0.15002	0.003000	0.11579	0.005000	0.04900	0.180000	0.16860	-0.703000	0.05049	-1.443000	0.01068	CAG		0.682	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		G	29691648	A	G	29691648	3	3	41	1	0	0	0	0	1	0	0	0	7211	188	7	4	284	4	HLA-F	6	29691648	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	236043	29691648	141423419	23	2519											
AGPAT1	10554	broad.mit.edu	37	chr6	32139093	32139093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgttctcgacgttgcGtcctcgcacggcacacacag	7	10	9	15	5	2	0	1	0	1	0	5	1	3	0	1	1	1	4	1	1	0	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:32139093G>A	ENST00000395499.1	-	2	760	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	AGPAT1_ENST00000395497.1_Missense_Mutation_p.R61C|AGPAT1_ENST00000412465.2_De_novo_Start_OutOfFrame|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R61C|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R61C|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R61C|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R61C|AGPAT1_ENST00000490711.1_5'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	61					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCGACGTTGCGTCCTCGCACG	0.567																																						uc003oae.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(181-183)Cgc>Tgc		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.							185	158	168					6																	32139093		1511	2708	4219	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32139093G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.181C>T	6.37:g.32139093G>A	ENSP00000378877:p.Arg61Cys					EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.T54M|AGPAT1_uc003oag.3_Missense_Mutation_p.T54M|AGPAT1_uc003oah.3_Missense_Mutation_p.R61C|AGPAT1_uc003oai.1_Missense_Mutation_p.R61C|AGPAT1_uc011dpl.2_5'UTR	p.R61C	NM_006411	NP_116130	Q99943	PLCA_HUMAN			1	516	-			61					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.181C>T	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788291	0.70337	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984	D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96802	0.9590	10	0.87932	D	0	-14.9565	16.0303	0.80572	0.0:0.0:1.0:0.0	.	61	Q99943	PLCA_HUMAN	C	61	ENSP00000378874:R61C;ENSP00000364248:R61C;ENSP00000378877:R61C;ENSP00000364245:R61C;ENSP00000378875:R61C;ENSP00000337463:R61C	ENSP00000337463:R61C	R	-	1	0	AGPAT1	32247071	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.221000	0.58574	2.392000	0.81423	0.561000	0.74099	CGC		0.567	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		A	32139093	G	A	32139093	3	1	41	1	0	0	0	0	1	0	0	0	386	1145	40	1	694	1	AGPAT1	6	32139093	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	2447445	32139093	138975974	24	2520											
MAPK13	5603	broad.mit.edu	37	chr6	36099124	36099124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagtccgagatcttcGccaagcgcgcctaccgggag	7	8	11	15	5	2	1	1	0	1	1	4	3	3	2	5	1	2	0	5	1	2	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:36099124G>A	ENST00000211287.4	+	2	458	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	MAPK13_ENST00000373761.6_Missense_Mutation_p.A66T|MAPK13_ENST00000373766.5_Missense_Mutation_p.A66T|MAPK13_ENST00000373759.1_5'UTR|MAPK13_ENST00000490334.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CGAGATCTTCGCCAAGCGCGC	0.662																																						uc003ols.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(196-198)Gcc>Acc		Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.							63	66	65					6																	36099124		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36099124G>A	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.196G>A	6.37:g.36099124G>A	ENSP00000211287:p.Ala66Thr					MAPK13_uc003olt.3_Non-coding_Transcript	p.A66T	NM_002754	NP_002745	O15264	MK13_HUMAN			1	294	+			66			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.196G>A	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156708	0.94686	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766	T;T;T	0.65732	-0.17;-0.17;-0.17	4.58	3.71	0.42584	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	U	0.000250	T	0.64713	0.2623	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	T	0.69760	-0.5058	10	0.87932	D	0	-18.8757	12.1089	0.53827	0.0838:0.0:0.9162:0.0	.	66	O15264	MK13_HUMAN	T	66	ENSP00000362866:A66T;ENSP00000211287:A66T;ENSP00000362871:A66T	ENSP00000211287:A66T	A	+	1	0	MAPK13	36207102	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.686000	0.98664	0.922000	0.37019	0.462000	0.41574	GCC		0.662	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			A	36099124	G	A	36099124	3	1	41	1	0	0	0	0	1	0	0	0	9275	1087	38	1	202	1	MAPK13	6	36099124	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	3960031	36099124	135015943	25	2521											
TDRD6	221400	broad.mit.edu	37	chr6	46659003	46659003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgccaagtatactgaTggaaactggtataggggcat	11	11	12	7	0	0	1	0	1	0	0	0	2	0	2	2	4	4	3	2	4	6	5			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:46659003T>A	ENST00000316081.6	+	1	3138	c.3138T>A	c.(3136-3138)gaT>gaA	p.D1046E	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1046E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1046	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTATACTGATGGAAACTGGT	0.358																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3136-3138)gaT>gaA		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.							74	79	77					6																	46659003		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659003T>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3138T>A	6.37:g.46659003T>A	ENSP00000346065:p.Asp1046Glu					TDRD6_uc010jze.3_Missense_Mutation_p.D1046E	p.D1046E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	3392	+			1046			Tudor 5.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.3138T>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787266	0.49997	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15718	2.4;2.4	5.45	-1.06	0.10002	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.81239	2.535	0.26154	N	0.980106	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07751	-1.0756	10	0.52906	T	0.07	-16.2006	11.1344	0.48367	0.0:0.4216:0.0:0.5784	.	1046;1046	F5H5M3;O60522	.;TDRD6_HUMAN	E	1046	ENSP00000443299:D1046E;ENSP00000346065:D1046E	ENSP00000346065:D1046E	D	+	3	2	TDRD6	46766962	0.963000	0.33076	0.991000	0.47740	0.707000	0.40811	0.109000	0.15417	0.035000	0.15519	0.533000	0.62120	GAT		0.358	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		A	46659003	T	A	46659003	3	1	41	1	0	0	0	0	1	0	0	0	15731	1461	51	5	3140	5	TDRD6	6	46659003	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	10559879	46659003	124456064	26	2522											
TAAR1	134864	broad.mit.edu	37	chr6	132966960	132966960	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtggccatggaatgaatGagccaatttgttggggtatg	11	11	14	5	0	0	2	0	2	0	0	0	3	0	3	2	4	1	2	2	4	4	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:132966960G>C	ENST00000275216.1	-	1	182	c.183C>G	c.(181-183)ctC>ctG	p.L61L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	61					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TGGAATGAATGAGCCAATTTG	0.423																																						uc003qdm.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(181-183)ctC>ctG		Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	Amphetamine(DB00182)						133	130	131					6																	132966960		2203	4300	6503	SO:0001819	synonymous_variant	134864					plasma membrane		g.chr6:132966960G>C	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.183C>G	6.37:g.132966960G>C							p.L61L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	0	183	-	Breast(56;0.135)		61					Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	c.183C>G	CCDS5158.1																																																																																				0.423	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		C	132966960	G	C	132966960	2	2	41	1	0	0	0	0	0	0	0	1	15486	1277	45	5		5	TAAR1	6	132966960	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	86307957	132966960	38148107	27	2523											
SNX9	51429	broad.mit.edu	37	chr6	158331016	158331016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctggttaagtttgggtCagccattccaatcccttctc	6	15	7	13	0	3	0	1	0	2	0	7	0	5	0	4	2	1	2	4	2	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:158331016C>T	ENST00000392185.3	+	9	1079	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	303	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGTTTGGGTCAGCCATTCCA	0.408																																						uc003qqv.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(907-909)tCa>tTa		Homo sapiens sorting nexin 9 (SNX9), mRNA.							191	197	195					6																	158331016		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158331016C>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.908C>T	6.37:g.158331016C>T	ENSP00000376024:p.Ser303Leu						p.S303L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	8	1081	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	303			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.908C>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161556	0.57368	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.29917	1.55	5.56	4.69	0.59074	Phox homologous domain (5);	0.408600	0.28343	N	0.015699	T	0.10766	0.0263	L	0.37561	1.115	0.48185	D	0.999601	B	0.26902	0.163	B	0.28232	0.087	T	0.08493	-1.0719	10	0.35671	T	0.21	-19.4378	9.2072	0.37296	0.0:0.7675:0.0:0.2325	.	303	Q9Y5X1	SNX9_HUMAN	L	303;303;103	ENSP00000376024:S303L	ENSP00000252631:S103L	S	+	2	0	SNX9	158251004	0.998000	0.40836	0.991000	0.47740	0.986000	0.74619	3.620000	0.54203	-0.188000	0.10499	0.533000	0.62120	TCA		0.408	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			T	158331016	C	T	158331016	3	4	41	1	0	0	0	0	1	0	0	0	14909	838	29	3	942	3	SNX9	6	158331016	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	25364056	158331016	12784051	28	2524											
GPR141	353345	broad.mit.edu	37	chr7	37780793	37780793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggttgcattttataaCgaaatcttcttgagtgtaac	13	14	8	6	1	2	1	0	1	2	0	2	2	2	1	0	1	4	4	0	1	5	7	rs146749644	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:37780793C>T	ENST00000447769.1	+	4	1087	c.798C>T	c.(796-798)aaC>aaT	p.N266N	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.N266N			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTTATAACGAAATCTTCT	0.383																																						uc003tfm.1																			1	Substitution - Missense(1)	p.N266K(2)|p.Y265C(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(796-798)aaC>aaT		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.		C		5,4401	9.9+/-24.2	0,5,2198	157	151	153		798	-0.3	1	7	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	GPR141	NM_181791.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		266/306	37780793	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780793C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.798C>T	7.37:g.37780793C>T						BC043356_uc003tfl.3_Intron	p.N266N	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			0	798	+			266					A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	c.798C>T	CCDS5451.1																																																																																				0.383	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		T	37780793	C	T	37780793	2	4	41	1	0	0	0	0	0	0	0	1	6649	535	19	1		1	GPR141	7	37780793	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08		37780793	121357870	29	2525											
ABCB1	5243	broad.mit.edu	37	chr7	87190658	87190658	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcagctactgctccagCttttgcatacgctaagagtt																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:87190658delC	ENST00000265724.3	-	9	1165	c.748delG	c.(748-750)gctfs	p.A250fs	ABCB1_ENST00000543898.1_Frame_Shift_Del_p.A186fs	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	250	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A250T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACTGCTCCAGCTTTTGCATAC	0.318																																						uc003uiz.2																			1	Substitution - Missense(1)	p.A250T(2)|p.K249E(1)	central_nervous_system(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(748-750)gctfs		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						71	70	71					7																	87190658		2202	4299	6501	SO:0001589	frameshift_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190658delC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.748delG	7.37:g.87190658delC	ENSP00000265724:p.Ala250fs					ABCB1_uc011khc.2_Frame_Shift_Del_p.A186fs	p.A250fs	NM_000927	NP_000918	P08183	MDR1_HUMAN			8	1241	-	Esophageal squamous(14;0.00164)		250			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Frame_Shift_Del	DEL	ENST00000265724.3	37	c.748delG	CCDS5608.1																																																																																				0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		-	87190658	C	-	87190658	7	5	41	1	0	1	0	1	0	0	0	0	40	797	28	0	3178	0	ABCB1	7	87190658	Frame_Shift_Del	DEL	C	TCGA-06-0192-01B-01W-0348-08	49409865	87190658	71948005	30	2526											
HIPK2	28996	broad.mit.edu	37	chr7	139316027	139316027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgtttgtgaaatataccGaatctgcaagaaaagataag	16	11	9	5	1	1	3	0	1	1	2	1	4	1	3	1	0	2	2	1	0	8	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:139316027G>A	ENST00000406875.3	-	4	1325	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HIPK2_ENST00000342645.6_Missense_Mutation_p.R411W|HIPK2_ENST00000428878.2_Missense_Mutation_p.R411W	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	411	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAATATACCGAATCTGCAAG	0.408																																						uc003vvf.4																			0		p.R411Q(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1231-1233)Cgg>Tgg		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							47	46	46					7																	139316027		1846	4117	5963	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139316027G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1231C>T	7.37:g.139316027G>A	ENSP00000385571:p.Arg411Trp					HIPK2_uc003vvd.4_Missense_Mutation_p.R411W	p.R411W	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			3	1502	-	Melanoma(164;0.205)		411			Interaction with DAXX.|Protein kinase.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.098508	0.94197	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.66280	-0.2;-0.2;-0.2	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81365	0.4807	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.83637	0.0148	8	0.87932	D	0	.	19.2573	0.93951	0.0:0.0:1.0:0.0	.	411;411	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	W	411	ENSP00000385571:R411W;ENSP00000413724:R411W;ENSP00000343108:R411W	ENSP00000343108:R411W	R	-	1	2	HIPK2	138966567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.763000	0.85283	2.546000	0.85860	0.460000	0.39030	CGG		0.408	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		A	139316027	G	A	139316027	3	1	41	1	0	0	0	0	1	0	0	0	7117	1057	37	2	2413	2	HIPK2	7	139316027	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	52125369	139316027	19822636	31	2527											
KEL	3792	broad.mit.edu	37	chr7	142658446	142658446	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgggatcttgcttaCgagggccacagttctggaag	7	10	16	8	1	3	0	0	0	3	0	3	3	3	2	1	5	2	2	1	5	2	3	rs369569464		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:142658446C>T	ENST00000355265.2	-	3	698		c.e3+1		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	GRCh37	CS012497|CS012498	KEL	S		c.e3+1		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		C		0,4406		0,0,2203	58	57	57			4.4	0.9	7		57	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	KEL	NM_000420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			142658446	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658446C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.223+1G>A	7.37:g.142658446C>T							p.R75_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			3	433	-	Melanoma(164;0.059)		75					B2RBV4|Q96RS8|Q99885	Splice_Site	SNP	ENST00000355265.2	37	c.223_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000416	0.19121	0.0	1.16E-4	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543;ENST00000460479	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4997	0.55948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KEL	142368568	0.890000	0.30428	0.875000	0.34327	0.027000	0.11550	3.682000	0.54656	2.319000	0.78375	0.655000	0.94253	.		0.602	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Intron	T	142658446	C	T	142658446	5	4	41	1	0	0	0	0	0	0	1	0	8142	550	19	1	2042	1	KEL	7	142658446	Splice_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	3342419	142658446	16480217	32	2528											
PCM1	5108	broad.mit.edu	37	chr8	17872225	17872226	+	Frame_Shift_Ins	INS	-	-	A																															cagcctaaccctttgccgttINSacgtttacctgaaatggaac																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr8:17872225_17872226insA	ENST00000519253.1	+	36	5944_5945	c.5693_5694insA	c.(5692-5697)ttacgtfs	p.R1899fs	PCM1_ENST00000327578.8_Frame_Shift_Ins_p.R606fs|PCM1_ENST00000325083.8_Frame_Shift_Ins_p.R1907fs|PCM1_ENST00000524226.1_Intron			Q15154	PCM1_HUMAN	pericentriolar material 1	1907					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CCTTTGCCGTTACGTTTACCTG	0.436			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	uc022asj.1				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5833-5835)ttafs		Homo sapiens pericentriolar material 1 (PCM1), mRNA.																																				SO:0001589	frameshift_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17872225_17872226insA		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5694dupA	8.37:g.17872226_17872226dupA	ENSP00000431099:p.Arg1899fs					PCM1_uc003wyi.4_Frame_Shift_Ins_p.L1906fs|PCM1_uc011kyh.2_Frame_Shift_Ins_p.L1898fs|PCM1_uc003wyj.4_Intron|PCM1_uc011kyi.2_Frame_Shift_Ins_p.L705fs|PCM1_uc011kyj.2_Frame_Shift_Ins_p.L662fs|PCM1_uc003wyk.4_Frame_Shift_Ins_p.L588fs|PCM1_uc011kyk.2_Frame_Shift_Ins_p.L522fs	p.L1945fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	34	5856_5857	+			1906			Interaction with BBS4.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Frame_Shift_Ins	INS	ENST00000519253.1	37	c.5834_5835insA																																																																																					0.436	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		A	17872226	-	A	17872225	7	5	41	1	0	1	1	0	0	0	0	0	11584	1764	61	0	5851	0	PCM1	8	17872225	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08		17872225	128491797	33	2529											
PRUNE2	158471	broad.mit.edu	37	chr9	79322930	79322930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgcaggttatctgcGgacatccctgtttgcacatc	6	14	10	11	1	1	0	0	0	1	0	3	1	2	1	1	3	3	5	1	3	1	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr9:79322930G>A	ENST00000376718.3	-	8	4383	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PRUNE2_ENST00000428286.1_Silent_p.S1061S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1420					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S1420S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTATCTGCGGACATCCCTG	0.443																																						uc010mpk.3																			1	Substitution - coding silent(1)	p.S1420S(1)	large_intestine(1)	endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4258-4260)tcC>tcT		Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.							66	61	63					9																	79322930		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322930G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4260C>T	9.37:g.79322930G>A						PRUNE2_uc022bih.1_Silent_p.S1242S	p.S1420S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			7	4384	-			1420					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.4260C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.653	-0.071084	0.07228	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.29	-2.31	0.06765	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33701	-0.9858	4	.	.	.	-7.8986	8.2375	0.31636	0.4877:0.1055:0.4068:0.0	.	.	.	.	C	742	.	.	R	-	1	0	PRUNE2	78512750	0.107000	0.21998	0.000000	0.03702	0.001000	0.01503	0.067000	0.14510	-0.489000	0.06716	-0.940000	0.02684	CGC		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		A	79322930	G	A	79322930	2	1	41	1	0	0	0	0	0	0	0	1	12641	1103	39	2		2	PRUNE2	9	79322930	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08		79322930	61890501	34	2530											
KLF6	1316	broad.mit.edu	37	chr10	3827115	3827115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgtttacctgttgccagTactcctccagagacggcagc	7	10	10	14	2	0	1	0	0	0	1	2	2	2	1	4	1	5	4	4	1	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:3827115T>C	ENST00000497571.1	-	1	352	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	KLF6_ENST00000469435.1_Missense_Mutation_p.Y31C|KLF6_ENST00000173785.4_5'Flank|KLF6_ENST00000542957.1_Missense_Mutation_p.Y31C	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	31					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGTTGCCAGTACTCCTCCAG	0.687																																						uc001iha.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(91-93)tAc>tGc		Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.							32	35	34					10																	3827115		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3827115T>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.92A>G	10.37:g.3827115T>C	ENSP00000419923:p.Tyr31Cys					KLF6_uc010qaj.2_Missense_Mutation_p.Y31C|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.Y31C|KLF6_uc001ihb.2_Missense_Mutation_p.Y31C	p.Y31C	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	0	359	-			31					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.92A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916078	0.73098	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435;ENST00000322510	T;T;T	0.53206	3.39;0.63;0.86	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.68274	0.2983	M	0.76838	2.35	0.54753	D	0.999983	D;D;D;D	0.89917	0.975;0.99;1.0;0.996	P;P;D;P	0.76575	0.647;0.831;0.988;0.863	T	0.70204	-0.4936	10	0.44086	T	0.13	.	14.3399	0.66619	0.0:0.0:0.0:1.0	.	31;31;31;31	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	C	31	ENSP00000419923:Y31C;ENSP00000445301:Y31C;ENSP00000419079:Y31C	ENSP00000324925:Y31C	Y	-	2	0	KLF6	3817115	1.000000	0.71417	0.990000	0.47175	0.880000	0.50808	5.969000	0.70422	1.988000	0.58038	0.260000	0.18958	TAC		0.687	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			C	3827115	T	C	3827115	3	2	41	1	0	0	0	0	1	0	0	0	8350	1638	57	4	775	4	KLF6	10	3827115	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		3827115	131707632	35	2531											
FAM21C	253725	broad.mit.edu	37	chr10	46265058	46265058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctttttgccattgcCaaggacaggtgagatagtca	11	12	11	7	0	2	2	1	2	1	1	2	5	2	3	2	2	2	0	2	2	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:46265058C>T	ENST00000336378.4	+	20	2143	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	FAM21C_ENST00000359860.4_Silent_p.A619A|FAM21C_ENST00000540872.1_Silent_p.A677A|FAM21C_ENST00000374362.2_Silent_p.A677A|FAM21C_ENST00000537517.1_Silent_p.A653A	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	675					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGCCATTGCCAAGGACAGGT	0.478																																						uc001jcu.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2029-2031)gcC>gcT		Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.							267	250	255					10																	46265058		1912	4118	6030	SO:0001819	synonymous_variant	253725							g.chr10:46265058C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2025C>T	10.37:g.46265058C>T						FAM21C_uc001jcs.2_Silent_p.A620A|FAM21C_uc010qfk.2_Silent_p.A677A|FAM21C_uc010qfi.2_Silent_p.A653A|FAM21C_uc010qfj.2_5'UTR	p.A677A	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			19	2149	+			677					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.2031C>T																																																																																					0.478	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	46265058	C	T	46265058	2	4	41	1	0	0	0	0	0	0	0	1	5542	581	21	3		3	FAM21C	10	46265058	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	42437943	46265058	89269689	36	2532											
PTEN	5728	broad.mit.edu	37	chr10	89720794	89720794	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagataatgacaaggaataTctagtacttactttaacaaa	18	11	6	6	0	1	2	0	1	1	1	1	3	1	3	0	1	3	2	0	1	9	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:89720794T>A	ENST00000371953.3	+	8	2302	c.945T>A	c.(943-945)taT>taA	p.Y315*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	315	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y315fs*9(1)|p.G165_*404del(1)|p.L316fs*2(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGGAATATCTAGTACTTA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Insertion - Frameshift(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.E314fs*3(3)|p.Y315fs*9(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.E314*(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.E314K(1)|p.L316fs*2(1)|p.E314fs*11(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033670|CM981676	PTEN	M		c.(943-945)taT>taA		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							100	99	99					10																	89720794		2203	4299	6502	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720794T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.945T>A	10.37:g.89720794T>A	ENSP00000361021:p.Tyr315*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y315*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1977	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	315			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.945T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.456712	0.99796	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.12	0.48240	.	0.058407	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.544	9.3204	0.37959	0.0:0.1053:0.0:0.8947	.	.	.	.	X	315	.	.	Y	+	3	2	PTEN	89710774	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.482000	0.35486	0.745000	0.32763	0.482000	0.46254	TAT		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89720794	T	A	89720794	4	1	41	1	0	0	0	0	0	1	0	0	12738	1442	50	5	975	5	PTEN	10	89720794	Nonsense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	43455736	89720794	45813953	37	2533											
TPP1	1200	broad.mit.edu	37	chr11	6637552	6637552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggaggtcacctgaggCgaagagcagggtgagacccc	10	4	18	9	1	1	3	1	2	0	2	1	6	1	4	3	5	1	2	3	5	2	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:6637552C>T	ENST00000299427.6	-	8	1129	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_Missense_Mutation_p.A114T	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TCACCTGAGGCGAAGAGCAGG	0.567																																						uc001mel.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1069-1071)Gcc>Acc		Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.							101	104	103					11																	6637552		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637552C>T	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1069G>A	11.37:g.6637552C>T	ENSP00000299427:p.Ala357Thr					TPP1_uc001mek.1_Missense_Mutation_p.A114T	p.A357T	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	7	1130	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	357					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.1069G>A	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090501	0.94149	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.99701	-6.45;-2.88	5.4	5.4	0.78164	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.115133	0.64402	D	0.000015	D	0.99809	0.9917	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97014	0.9738	10	0.72032	D	0.01	-22.5628	16.3198	0.82945	0.0:1.0:0.0:0.0	.	357	O14773	TPP1_HUMAN	T	357;114	ENSP00000299427:A357T;ENSP00000437066:A114T	ENSP00000299427:A357T	A	-	1	0	TPP1	6594128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.381000	0.79718	2.542000	0.85734	0.555000	0.69702	GCC		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			T	6637552	C	T	6637552	3	4	41	1	0	0	0	0	1	0	0	0	16408	768	27	1	646	1	TPP1	11	6637552	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		6637552	128368964	38	2534											
CTR9	9646	broad.mit.edu	37	chr11	10774300	10774300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacacacacaactgcacAtatggattgctttggcggtc	12	9	10	10	1	0	0	0	0	0	0	1	2	0	2	0	4	4	2	0	4	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:10774300A>G	ENST00000361367.2	+	2	553	c.127A>G	c.(127-129)Ata>Gta	p.I43V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	43					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACAACTGCACATATGGATTGC	0.363																																						uc001mja.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(127-129)Ata>Gta		Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.							239	227	231					11																	10774300		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10774300A>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.127A>G	11.37:g.10774300A>G	ENSP00000355013:p.Ile43Val						p.I43V	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	1	276	+			43					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.127A>G	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797594	0.31777	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.76316	-1.01	5.82	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.21097	0.63	0.51767	D	0.999931	B	0.19445	0.036	B	0.15052	0.012	T	0.57021	-0.7882	10	0.15066	T	0.55	-18.5584	11.963	0.53019	0.856:0.144:0.0:0.0	.	43	Q6PD62	CTR9_HUMAN	V	43;30	ENSP00000355013:I43V	ENSP00000355013:I43V	I	+	1	0	CTR9	10730876	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.953000	0.93041	2.225000	0.72522	0.460000	0.39030	ATA		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		G	10774300	A	G	10774300	3	3	41	1	0	0	0	0	1	0	0	0	4024	217	8	4	133	4	CTR9	11	10774300	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4136748	10774300	124232216	39	2535											
LUZP2	338645	broad.mit.edu	37	chr11	24936063	24936063	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgaaggagcttcgttatggGaagaaggatttattatttaa	13	14	11	3	1	0	2	0	1	0	1	1	5	0	5	0	3	1	2	0	3	7	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:24936063G>C	ENST00000336930.6	+	7	567	c.501G>C	c.(499-501)ggG>ggC	p.G167G	LUZP2_ENST00000533227.1_Silent_p.G81G			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	167	Leucine-zipper.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCGTTATGGGAAGAAGGATT	0.318																																						uc001mqs.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(499-501)ggG>ggC		Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.							96	99	98					11																	24936063		2203	4300	6503	SO:0001819	synonymous_variant	338645					extracellular region		g.chr11:24936063G>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.501G>C	11.37:g.24936063G>C						LUZP2_uc009yif.3_Silent_p.G81G|LUZP2_uc009yig.3_Intron	p.G167G	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			6	775	+			167			Leucine-zipper.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	c.501G>C	CCDS31446.1																																																																																				0.318	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		C	24936063	G	C	24936063	2	2	41	1	0	0	0	0	0	0	0	1	9087	1161	41	5		5	LUZP2	11	24936063	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	14161763	24936063	110070453	40	2536											
LRP4	4038	broad.mit.edu	37	chr11	46880714	46880714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctggatggacaccgtGtctgtcttcatgcatacatg	7	12	11	11	1	3	0	1	0	2	0	3	2	3	2	2	3	2	1	2	3	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:46880714G>A	ENST00000378623.1	-	38	5780	c.5538C>T	c.(5536-5538)gaC>gaT	p.D1846D	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1846					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGACACCGTGTCTGTCTTCA	0.582																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5536-5538)gaC>gaT		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.							93	80	85					11																	46880714		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880714G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5538C>T	11.37:g.46880714G>A						LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Silent_p.D88D	p.D1846D	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	37	5781	-			1846					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.5538C>T	CCDS31478.1																																																																																				0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46880714	G	A	46880714	2	1	41	1	0	0	0	0	0	0	0	1	8959	1368	48	3		3	LRP4	11	46880714	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	21944651	46880714	88125802	41	2537											
OR5F1	338674	broad.mit.edu	37	chr11	55761167	55761167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccaaacaatcacagaaagGaagaggtccttttcctgcta	15	8	8	10	0	1	2	1	0	0	2	3	3	3	3	3	2	3	1	3	2	5	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:55761167G>A	ENST00000278409.1	-	1	934	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	312					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCACAGAAAGGAAGAGGTCCT	0.338																																						uc010riv.2																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(934-936)tCc>tTc		Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.							44	46	45					11																	55761167		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761167G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.935C>T	11.37:g.55761167G>A	ENSP00000278409:p.Ser312Phe						p.S312F	NM_003697	NP_003688	O95221	OR5F1_HUMAN			0	935	-	Esophageal squamous(21;0.00448)		312					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.935C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	5.567	0.289462	0.10567	.	.	ENSG00000149133	ENST00000278409	T	0.00005	9.78	2.46	0.29	0.15728	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.28305	0.088	T	0.00003	-1.2607	9	0.23302	T	0.38	.	2.9896	0.05979	0.1629:0.0:0.5734:0.2637	.	312	O95221	OR5F1_HUMAN	F	312	ENSP00000278409:S312F	ENSP00000278409:S312F	S	-	2	0	OR5F1	55517743	.	.	0.092000	0.20876	0.021000	0.10359	.	.	-0.034000	0.13713	0.289000	0.19496	TCC		0.338	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		A	55761167	G	A	55761167	3	1	41	1	0	0	0	0	1	0	0	0	11158	1174	41	3	12	3	OR5F1	11	55761167	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8880453	55761167	79245349	42	2538											
OR9G1	390174	broad.mit.edu	37	chr11	56468297	56468297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgcattgctggtagCagtctcatattgtggtggct	5	15	14	7	0	1	0	1	0	1	0	2	0	1	0	0	3	3	6	0	3	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:56468297C>A	ENST00000312153.1	+	1	434	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TTGCTGGTAGCAGTCTCATAT	0.463																																						uc010rjn.2																			0											c.(433-435)gCa>gAa		Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.							206	191	196					11																	56468297		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468297C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.434C>A	11.37:g.56468297C>A	ENSP00000309012:p.Ala145Glu					OR8U8_uc001nit.2_Intron	p.A145E	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN			0	434	+			145					Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.434C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841373	0.16891	.	.	ENSG00000174914	ENST00000312153	T	0.42513	0.97	4.3	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	2.253820	0.01708	N	0.027543	T	0.65333	0.2681	M	0.92923	3.36	0.09310	N	1	B	0.34399	0.452	P	0.45794	0.493	T	0.48080	-0.9066	10	0.62326	D	0.03	2.2401	7.7673	0.28986	0.0:0.6573:0.0:0.3427	.	145	Q8NH87	OR9G1_HUMAN	E	145	ENSP00000309012:A145E	ENSP00000309012:A145E	A	+	2	0	OR9G1	56224873	0.000000	0.05858	0.040000	0.18447	0.014000	0.08584	-1.031000	0.03578	0.176000	0.19873	0.573000	0.79308	GCA		0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		A	56468297	C	A	56468297	3	1	41	1	0	0	0	0	1	0	0	0	11250	710	25	5	436	5	OR9G1	11	56468297	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	707130	56468297	78538219	43	2539											
DPF2	5977	broad.mit.edu	37	chr11	65107936	65107936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgagcgcagcgtgcGcctgcctttcttggactcac	4	11	12	14	3	2	1	1	1	1	0	2	2	2	2	2	1	5	2	2	1	0	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:65107936G>A	ENST00000528416.1	+	2	246	c.113G>A	c.(112-114)cGc>cAc	p.R38H	DPF2_ENST00000252268.4_Missense_Mutation_p.R38H|DPF2_ENST00000415073.2_Missense_Mutation_p.R38H|DPF2_ENST00000532264.1_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	38					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CGCAGCGTGCGCCTGCCTTTC	0.552																																						uc001odm.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(112-114)cGc>cAc		Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.							115	112	113					11																	65107936		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65107936G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.113G>A	11.37:g.65107936G>A	ENSP00000436901:p.Arg38His					DPF2_uc010roe.2_Missense_Mutation_p.R38H	p.R38H	NM_006268	NP_006259	Q92785	REQU_HUMAN			1	246	+			38					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.113G>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936776	0.92458	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.95482	-3.66;-3.68;-3.72	5.52	5.52	0.82312	.	0.000000	0.38217	N	0.001768	D	0.97695	0.9244	M	0.83774	2.66	0.48975	D	0.999734	D;D;D	0.89917	0.998;1.0;0.995	P;D;P	0.71414	0.885;0.973;0.828	D	0.98335	1.0535	10	0.87932	D	0	-19.5775	16.9414	0.86219	0.0:0.0:1.0:0.0	.	38;38;38	B4DT58;E9PN04;Q92785	.;.;REQU_HUMAN	H	38	ENSP00000436901:R38H;ENSP00000399714:R38H;ENSP00000252268:R38H	ENSP00000252268:R38H	R	+	2	0	DPF2	64864512	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.956000	0.87863	2.588000	0.87417	0.655000	0.94253	CGC		0.552	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		A	65107936	G	A	65107936	3	1	41	1	0	0	0	0	1	0	0	0	4717	1087	38	1	119	1	DPF2	11	65107936	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8639639	65107936	69898580	44	2540											
PGR	5241	broad.mit.edu	37	chr11	100999454	100999454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggcgccaacagagtGtccaagacactgtccagcag	11	5	12	13	1	0	3	0	1	0	2	2	3	2	3	4	1	2	1	4	1	2	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:100999454G>C	ENST00000325455.5	-	1	1801	c.348C>G	c.(346-348)gaC>gaG	p.D116E	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.D116E	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	116	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCAACAGAGTGTCCAAGACAC	0.622																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(346-348)gaC>gaG		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						32	29	30					11																	100999454		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999454G>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.348C>G	11.37:g.100999454G>C	ENSP00000325120:p.Asp116Glu					PGR_uc001pgi.2_Missense_Mutation_p.D116E|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	p.D116E	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	0	1091	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	116			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.348C>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579485	0.46006	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.10192	2.9;2.9	4.2	2.33	0.28932	.	0.330408	0.21785	N	0.069143	T	0.14399	0.0348	M	0.80183	2.485	0.27991	N	0.935659	B;B	0.16603	0.018;0.018	B;B	0.20767	0.031;0.031	T	0.14811	-1.0459	10	0.66056	D	0.02	.	6.1321	0.20211	0.0978:0.0:0.7166:0.1855	.	116;116	Q8TDS3;P06401	.;PRGR_HUMAN	E	116	ENSP00000325120:D116E;ENSP00000263463:D116E	ENSP00000263463:D116E	D	-	3	2	PGR	100504664	0.999000	0.42202	0.256000	0.24389	0.891000	0.51852	1.787000	0.38704	0.434000	0.26340	-0.218000	0.12543	GAC		0.622	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			C	100999454	G	C	100999454	3	2	41	1	0	0	0	0	1	0	0	0	11805	1368	48	5	2485	5	PGR	11	100999454	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	35891518	100999454	34007062	45	2541											
DDI1	414301	broad.mit.edu	37	chr11	103908056	103908056	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaccctcccttggcggAagccctgctcagcggaagcc	8	5	11	17	3	1	0	1	0	0	0	2	2	2	2	4	3	5	2	4	3	3	1	rs374052014		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:103908056A>C	ENST00000302259.3	+	1	749	c.506A>C	c.(505-507)gAa>gCa	p.E169A	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	169							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCTTGGCGGAAGCCCTGCTC	0.602																																						uc001phr.2																			0		p.E169D(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(505-507)gAa>gCa		Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.							63	63	63					11																	103908056		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908056A>C		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.506A>C	11.37:g.103908056A>C	ENSP00000302805:p.Glu169Ala					PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	p.E169A	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	0	749	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	169					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.506A>C	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.716380	0.48622	.	.	ENSG00000170967	ENST00000302259	T	0.25085	1.82	5.02	5.02	0.67125	.	0.049889	0.85682	D	0.000000	T	0.34250	0.0891	L	0.41824	1.3	0.54753	D	0.999983	P	0.51351	0.944	P	0.57548	0.823	T	0.02081	-1.1217	10	0.23891	T	0.37	-34.5941	13.0219	0.58794	1.0:0.0:0.0:0.0	.	169	Q8WTU0	DDI1_HUMAN	A	169	ENSP00000302805:E169A	ENSP00000302805:E169A	E	+	2	0	DDI1	103413266	1.000000	0.71417	0.214000	0.23707	0.049000	0.14656	8.529000	0.90602	2.244000	0.73946	0.533000	0.62120	GAA		0.602	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		C	103908056	A	C	103908056	3	2	41	1	0	0	0	0	1	0	0	0	4328	246	9	5	508	5	DDI1	11	103908056	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	2908602	103908056	31098460	46	2542											
SPATA19	219938	broad.mit.edu	37	chr11	133711992	133711992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgagacatctgtaagaCgggatatgctgcaggggaca	12	7	15	7	1	1	2	0	1	1	2	1	6	1	4	0	3	3	4	0	3	2	2	rs140608295		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:133711992C>T	ENST00000299140.3	-	6	500	c.446G>A	c.(445-447)cGt>cAt	p.R149H	SPATA19_ENST00000532889.1_Missense_Mutation_p.R149H	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	149					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTGTAAGACGGGATATGCT	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		21919	0		0	False		,,,				2504	0					uc001qgv.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(445-447)cGt>cAt		Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	118	108	112		446	3.2	0	11	dbSNP_134	112	0,8594		0,0,4297	no	missense	SPATA19	NM_174927.1	29	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	benign	149/168	133711992	2,12994	2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133711992C>T	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"spergen 1", "cancer/testis antigen 132"	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.446G>A	11.37:g.133711992C>T	ENSP00000299140:p.Arg149His						p.R149H	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	5	497	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	149					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.446G>A	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	6.723	0.502095	0.12822	4.54E-4	0.0	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.42900	0.96;0.96	5.45	3.17	0.36434	.	0.561035	0.16232	N	0.223559	T	0.13628	0.0330	N	0.01576	-0.805	0.45150	D	0.998166	B	0.06786	0.001	B	0.01281	0.0	T	0.08848	-1.0702	10	0.08179	T	0.78	-16.4698	6.6226	0.22812	0.0:0.1952:0.0:0.8048	.	149	Q7Z5L4	SPT19_HUMAN	H	149	ENSP00000299140:R149H;ENSP00000435248:R149H	ENSP00000299140:R149H	R	-	2	0	SPATA19	133217202	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	0.213000	0.17521	0.387000	0.25024	-0.367000	0.07326	CGT		0.602	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		T	133711992	C	T	133711992	3	4	41	1	0	0	0	0	1	0	0	0	15003	536	19	1	61	1	SPATA19	11	133711992	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	29803936	133711992	1294524	47	2543											
CLEC1A	51267	broad.mit.edu	37	chr12	10241786	10241786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagtcagcagggtcagggCcactggtcgccacgttgaag	10	6	14	11	2	2	1	2	1	0	0	3	1	2	1	2	3	1	2	2	3	2	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:10241786C>T	ENST00000315330.4	-	2	213	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	51					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGGGTCAGGGCCACTGGTCGC	0.547																																						uc001qxb.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(151-153)Gcc>Acc		Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.							56	51	52					12																	10241786		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10241786C>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.151G>A	12.37:g.10241786C>T	ENSP00000326407:p.Ala51Thr					CLEC1A_uc001qxd.3_Intron|CLEC1A_uc010sgx.2_Intron	p.A51T	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			1	235	-			51					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.151G>A	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125774	0.37533	.	.	ENSG00000150048	ENST00000315330;ENST00000414501	T;T	0.72505	4.84;-0.66	5.35	4.47	0.54385	.	0.251366	0.28252	N	0.016023	T	0.67832	0.2935	M	0.75884	2.315	0.80722	D	1	B	0.27882	0.192	B	0.23716	0.048	T	0.66464	-0.5917	10	0.45353	T	0.12	.	10.3051	0.43676	0.0:0.9082:0.0:0.0918	.	51	Q8NC01	CLC1A_HUMAN	T	51	ENSP00000326407:A51T;ENSP00000396272:A51T	ENSP00000326407:A51T	A	-	1	0	CLEC1A	10133053	0.972000	0.33761	0.932000	0.37286	0.252000	0.25951	2.328000	0.43867	1.250000	0.43966	0.655000	0.94253	GCC		0.547	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		T	10241786	C	T	10241786	3	4	41	1	0	0	0	0	1	0	0	0	3505	739	26	3	711	3	CLEC1A	12	10241786	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		10241786	123610109	48	2544											
LST-3TM12	338821	broad.mit.edu	37	chr12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaattgatggaagcttcGaaataggtagctttttattt	11	18	9	3	1	0	1	0	1	0	0	1	3	0	2	0	2	2	4	0	2	6	10			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:21168708G>A	ENST00000421593.2	+	1	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E27K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAAGCTTCGAAATAGGTAG	0.308																																						uc010sil.2																			1	Substitution - Missense(1)	p.E27K(1)	skin(1)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							75	75	75					12																	21168708		2144	4285	6429	SO:0001583	missense	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21168708G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.79G>A	12.37:g.21168708G>A	ENSP00000394168:p.Glu27Lys					SLCO1B3_uc010sim.2_Intron|SLCO1B3_uc010sin.2_Missense_Mutation_p.E27K				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37		CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.693658	0.48202	.	.	ENSG00000205754	ENST00000421593	T	0.52295	0.67	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81623	-0.0849	10	0.87932	D	0	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	27	G3V0H7	.	K	27	ENSP00000394168:E27K	ENSP00000394168:E27K	E	+	1	0	SLCO1B7	21059975	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	8.346000	0.90060	1.476000	0.48215	0.407000	0.27541	GAA		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		A	21168708	G	A	21168708	3	1	41	1	0	0	0	0	1	0	0	0	9066	1059	37	2	81	2	LST-3TM12	12	21168708	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	10926922	21168708	112683187	49	2545											
ABCC9	10060	broad.mit.edu	37	chr12	22005399	22005399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcccctcctgcattaaaTgatcactcaagtgaatgtcc	13	11	5	12	0	2	2	2	2	0	0	5	2	5	2	4	0	1	1	4	0	5	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:22005399T>C	ENST00000261201.4	-	21	2545	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.H813R|ABCC9_ENST00000261200.4_Missense_Mutation_p.H849R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	849	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGCATTAAATGATCACTCAA	0.403																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2545-2547)cAt>cGt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						112	104	107					12																	22005399		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005399T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2546A>G	12.37:g.22005399T>C	ENSP00000261201:p.His849Arg					ABCC9_uc001rfi.1_Missense_Mutation_p.H849R	p.H849R	NM_020297	NP_064693	O60706	ABCC9_HUMAN			20	2566	-			849			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2546A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093651	0.76870	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.058514	0.64402	N	0.000003	T	0.80417	0.4619	L	0.33710	1.025	0.80722	D	1	D;D	0.56521	0.974;0.976	P;P	0.55161	0.757;0.77	T	0.82924	-0.0216	10	0.87932	D	0	-14.0133	12.9755	0.58534	0.0:0.0:0.0:1.0	.	849;849	O60706;O60706-2	ABCC9_HUMAN;.	R	849;476;849;813	ENSP00000261200:H849R;ENSP00000440521:H476R;ENSP00000261201:H849R;ENSP00000261202:H813R	ENSP00000261200:H849R	H	-	2	0	ABCC9	21896666	1.000000	0.71417	0.935000	0.37517	0.812000	0.45895	7.532000	0.81985	2.039000	0.60335	0.528000	0.53228	CAT		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		C	22005399	T	C	22005399	3	2	41	1	0	0	0	0	1	0	0	0	59	1464	51	4	2317	4	ABCC9	12	22005399	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	836691	22005399	111846496	50	2546											
ARNTL2	56938	broad.mit.edu	37	chr12	27521311	27521311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatgacagagtttccaCgaaaacgcaaaggaagtgat	17	6	9	9	2	0	3	0	2	0	1	1	5	1	4	1	1	1	2	1	1	4	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:27521311C>T	ENST00000266503.5	+	2	166	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.R61*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.R50*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.R50*|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.R50*|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.R61*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.R13*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	50	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R50*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGAGTTTCCACGAAAACGCAA	0.483																																						uc001rht.2																			1	Substitution - Nonsense(1)	p.R50*(2)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(148-150)Cga>Tga		Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.							138	114	122					12																	27521311		2203	4300	6503	SO:0001587	stop_gained	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27521311C>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.148C>T	12.37:g.27521311C>T	ENSP00000266503:p.Arg50*					ARNTL2_uc001rhu.2_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhv.2_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhw.3_Nonsense_Mutation_p.R61*|ARNTL2_uc010sjp.2_Nonsense_Mutation_p.R61*|ARNTL2_uc009zji.2_Nonsense_Mutation_p.R50*	p.R50*	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			1	367	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		50					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	ENST00000266503.5	37	c.148C>T	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562626	0.86335	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.	.	.	3.39	2.25	0.28309	.	0.748438	0.12247	N	0.485988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0312	0.30465	0.7789:0.2211:0.0:0.0	.	.	.	.	X	50;61;61;50;50;50;13	.	ENSP00000261178:R50X	R	+	1	2	ARNTL2	27412578	0.995000	0.38212	0.984000	0.44739	0.664000	0.39144	0.628000	0.24522	0.691000	0.31592	-0.500000	0.04577	CGA		0.483	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		T	27521311	C	T	27521311	4	4	41	1	0	0	0	0	0	1	0	0	968	528	19	1	154	1	ARNTL2	12	27521311	Nonsense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	5515912	27521311	106330584	51	2547											
ASB8	140461	broad.mit.edu	37	chr12	48543629	48543629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcacacactcagcattGttcttaaaggctgcccagtg	9	9	9	14	1	2	0	1	0	1	0	2	0	2	0	2	1	2	4	2	1	2	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:48543629G>T	ENST00000317697.3	-	4	556	c.387C>A	c.(385-387)aaC>aaA	p.N129K	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.N129K|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536071.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	129					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ACTCAGCATTGTTCTTAAAGG	0.527																																						uc001rrh.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(385-387)aaC>aaA		Homo sapiens ankyrin repeat and SOCS box containing 8 (ASB8), mRNA.							76	65	69					12																	48543629		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543629G>T	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.387C>A	12.37:g.48543629G>T	ENSP00000320893:p.Asn129Lys					ASB8_uc010slr.2_Missense_Mutation_p.N129K	p.N129K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			3	556	-			129					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.387C>A	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557756	0.45590	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.65364	-0.15;-0.15	4.92	4.01	0.46588	Ankyrin repeat-containing domain (4);	0.093074	0.64402	D	0.000001	T	0.54902	0.1887	L	0.41079	1.255	0.80722	D	1	P	0.36010	0.532	B	0.37346	0.247	T	0.62798	-0.6778	10	0.72032	D	0.01	-18.7469	13.9356	0.64023	0.0791:0.0:0.9209:0.0	.	129	Q9H765	ASB8_HUMAN	K	129	ENSP00000320893:N129K;ENSP00000445622:N129K	ENSP00000320893:N129K	N	-	3	2	ASB8	46829896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.813000	0.48002	2.462000	0.83206	0.462000	0.41574	AAC		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			T	48543629	G	T	48543629	3	4	41	1	0	0	0	0	1	0	0	0	1029	1368	48	5	483	5	ASB8	12	48543629	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	21022318	48543629	85308266	52	2548											
SMARCC2	6601	broad.mit.edu	37	chr12	56563342	56563342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcggcggcggccagggCggcggcagcagcggtggaga	6	2	21	12	6	0	1	0	0	0	1	0	2	0	1	1	8	3	2	1	8	0	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:56563342C>T	ENST00000267064.4	-	24	2679	c.2593G>A	c.(2593-2595)Gcc>Acc	p.A865T	SMARCC2_ENST00000347471.4_Missense_Mutation_p.A896T|SMARCC2_ENST00000394023.3_Missense_Mutation_p.A896T|SMARCC2_ENST00000550164.1_Missense_Mutation_p.A896T|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	865	Poly-Ala.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			gcggccagggcggcggcagca	0.572																																						uc001skb.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2593-2595)Gcc>Acc		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.							77	69	71					12																	56563342		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563342C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2593G>A	12.37:g.56563342C>T	ENSP00000267064:p.Ala865Thr					SMARCC2_uc001skd.3_Missense_Mutation_p.A896T|SMARCC2_uc001ska.3_Missense_Mutation_p.A896T|SMARCC2_uc001skc.3_Missense_Mutation_p.A895T|SMARCC2_uc010sqf.2_Missense_Mutation_p.A785T	p.A865T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		23	2699	-			865			Poly-Ala.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2593G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988704	0.74589	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.60920	1.24;0.15;0.15;0.18	4.4	3.51	0.40186	.	0.250090	0.30437	N	0.009638	T	0.67154	0.2863	L	0.55743	1.74	0.40071	D	0.976015	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.984;0.993;0.984;0.984;0.993	T	0.67956	-0.5536	10	0.54805	T	0.06	-2.2907	8.4467	0.32847	0.0:0.8936:0.0:0.1064	.	785;896;900;865;896	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	T	896;896;896;865	ENSP00000377591:A896T;ENSP00000449396:A896T;ENSP00000302919:A896T;ENSP00000267064:A865T	ENSP00000267064:A865T	A	-	1	0	SMARCC2	54849609	0.997000	0.39634	0.917000	0.36280	0.002000	0.02628	4.554000	0.60760	1.220000	0.43490	-0.258000	0.10820	GCC		0.572	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			T	56563342	C	T	56563342	3	4	41	1	0	0	0	0	1	0	0	0	14776	768	27	1	1071	1	SMARCC2	12	56563342	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	8019713	56563342	77288553	53	2549											
FGD6	55785	broad.mit.edu	37	chr12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggcttttctgaagcccGtttaggcatatcaaaggagg	10	11	11	9	1	2	1	1	1	1	0	2	2	2	2	1	4	1	3	1	4	4	5	rs149076340	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:95603382G>A	ENST00000343958.4	-	2	1901	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_ENST00000546711.1_Missense_Mutation_p.R560W|FGD6_ENST00000549499.1_Missense_Mutation_p.R560W|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	560					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423													G|||	3	0.000599042	8e-04	0	5008	,	,		19397	0.002		0	False		,,,				2504	0					uc001tdp.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1678-1680)Cgg>Tgg		Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	88	94	92		1678	5.1	0.4	12	dbSNP_134	92	0,8600		0,0,4300	yes	missense	FGD6	NM_018351.3	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	560/1431	95603382	2,13004	2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603382G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1678C>T	12.37:g.95603382G>A	ENSP00000344446:p.Arg560Trp					FGD6_uc009zsx.3_Intron	p.R560W	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			1	1902	-			560					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1678C>T	CCDS31878.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.94	3.260632	0.59431	4.54E-4	0.0	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.70631	-0.4;-0.5;-0.44	6.04	5.14	0.70334	.	0.861329	0.09697	N	0.767537	T	0.74405	0.3712	L	0.43152	1.355	0.29047	N	0.884715	D	0.76494	0.999	P	0.50490	0.642	T	0.69465	-0.5138	10	0.66056	D	0.02	-0.1208	16.7057	0.85371	0.0:0.0:0.8694:0.1306	.	560	Q6ZV73	FGD6_HUMAN	W	560	ENSP00000344446:R560W;ENSP00000450342:R560W;ENSP00000449005:R560W	ENSP00000344446:R560W	R	-	1	2	FGD6	94127513	0.995000	0.38212	0.405000	0.26409	0.740000	0.42216	2.380000	0.44327	1.536000	0.49237	0.561000	0.74099	CGG		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		A	95603382	G	A	95603382	3	1	41	1	0	0	0	0	1	0	0	0	5837	1144	40	1	2694	1	FGD6	12	95603382	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	39040040	95603382	38248513	54	2550											
CDK17	5128	broad.mit.edu	37	chr12	96688901	96688901	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatttggtacagaaacagCtacagaaacaaataaataaa	23	7	6	5	0	0	3	0	0	0	3	0	3	0	3	0	1	5	2	0	1	10	5			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:96688901C>G	ENST00000261211.3	-	10	1477		c.e10-1		CDK17_ENST00000543119.2_Splice_Site|CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000553042.1_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAGAAACAGCTACAGAAACA	0.358																																						uc001tep.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.e10-1		Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.							84	80	81					12																	96688901		2203	4300	6503	SO:0001630	splice_region_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96688901C>G		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.874-1G>C	12.37:g.96688901C>G						CDK17_uc009ztk.3_Splice_Site_p.L292_splice|CDK17_uc010svb.2_Splice_Site_p.L239_splice	p.L292_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN			10	1506	-			292			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Splice_Site	SNP	ENST00000261211.3	37	c.874_splice	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189807	0.57909	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.603	0.91256	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK17	95213032	1.000000	0.71417	0.996000	0.52242	0.688000	0.40055	7.701000	0.84566	2.476000	0.83614	0.491000	0.48974	.		0.358	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	Intron	G	96688901	C	G	96688901	5	3	41	1	0	0	0	0	0	0	1	0	3133	811	28	5	768	5	CDK17	12	96688901	Splice_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	1085519	96688901	37162994	55	2551											
ZIC2	7546	broad.mit.edu	37	chr13	100634942	100634942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgacccctactcggcggcGcaactccacaaccagtacgg	10	4	9	18	5	0	0	0	0	0	0	2	1	1	0	5	3	4	2	5	3	4	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr13:100634942G>A	ENST00000376335.3	+	1	917	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	208	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTCGGCGGCGCAACTCCACA	0.677																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(622-624)gcG>gcA		Homo sapiens Zic family member 2 (ZIC2), mRNA.							17	20	19					13																	100634942		2194	4290	6484	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634942G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.624G>A	13.37:g.100634942G>A							p.A208A	NM_007129	NP_009060	O95409	ZIC2_HUMAN			0	917	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		208			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.624G>A	CCDS9495.1																																																																																				0.677	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		A	100634942	G	A	100634942	2	1	41	1	0	0	0	0	0	0	0	1	17676	1074	38	1		1	ZIC2	13	100634942	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08		100634942	14534936	56	2552											
MDGA2	161357	broad.mit.edu	37	chr14	47530541	47530541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacgtcccaaaatccGtgaattttaaatcaatgatg	14	13	7	7	2	1	2	1	2	0	0	3	2	3	2	2	0	1	1	2	0	7	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr14:47530541G>A	ENST00000399232.2	-	7	1593	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	MDGA2_ENST00000426342.1_Missense_Mutation_p.T181M|MDGA2_ENST00000439988.3_Missense_Mutation_p.T479M|MDGA2_ENST00000357362.3_Missense_Mutation_p.T181M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428																																						uc001wwj.4																			6	Substitution - Missense(6)	p.T181K(4)|p.T479K(2)	lung(6)	breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1435-1437)aCg>aTg		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							156	143	147					14																	47530541		1886	4109	5995	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530541G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1229C>T	14.37:g.47530541G>A	ENSP00000382178:p.Thr410Met					MDGA2_uc001wwi.4_Missense_Mutation_p.T181M|MDGA2_uc010ani.3_5'UTR	p.T479M	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			6	1594	-			410			Ig-like 5.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1436C>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.458885	0.84317	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.61912	0.2385	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62590	-0.6822	10	0.72032	D	0.01	.	18.2795	0.90094	0.0:0.0:1.0:0.0	.	410	Q7Z553	MDGA2_HUMAN	M	410;181;479;181	ENSP00000400011:T410M;ENSP00000405456:T181M;ENSP00000382178:T479M;ENSP00000349925:T181M	ENSP00000349925:T181M	T	-	2	0	MDGA2	46600291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.658000	0.90341	0.655000	0.94253	ACG		0.428	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		A	47530541	G	A	47530541	3	1	41	1	0	0	0	0	1	0	0	0	9407	1145	40	1	1685	1	MDGA2	14	47530541	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		47530541	59818999	57	2553											
OR4N4	283694	broad.mit.edu	37	chr15	22382513	22382513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtgacagaatttatccTccttggtctgactcagtctc	9	14	8	10	0	3	3	1	2	2	1	6	3	5	3	2	1	0	1	2	1	3	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:22382513T>A	ENST00000328795.4	+	1	132	c.41T>A	c.(40-42)cTc>cAc	p.L14H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAATTTATCCTCCTTGGTCTG	0.343																																						uc001yuc.1																			0		p.I13I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(40-42)cTc>cAc		Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.							151	145	147					15																	22382513		2187	4263	6450	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382513T>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.41T>A	15.37:g.22382513T>A	ENSP00000332500:p.Leu14His					abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.L14H	p.L14H	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	6	1022	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	14					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.41T>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.019	0.759109	0.15846	.	.	ENSG00000183706	ENST00000328795	T	0.00563	6.58	3.24	3.24	0.37175	.	0.000000	0.43110	D	0.000616	T	0.04452	0.0122	H	0.99197	4.465	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.21008	-1.0258	10	0.87932	D	0	-11.0895	9.793	0.40717	0.0:0.0:0.0:1.0	.	14	Q8N0Y3	OR4N4_HUMAN	H	14	ENSP00000332500:L14H	ENSP00000332500:L14H	L	+	2	0	OR4N4	19883877	0.531000	0.26338	0.876000	0.34364	0.159000	0.22180	2.935000	0.48963	1.465000	0.48006	0.164000	0.16699	CTC		0.343	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			A	22382513	T	A	22382513	3	1	41	1	0	0	0	0	1	0	0	0	11078	1551	54	5	43	5	OR4N4	15	22382513	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		22382513	80148879	58	2554											
GABRB3	2562	broad.mit.edu	37	chr15	26812854	26812854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgttcctcttcaaccgaaAgctcagtgacagtcgaggat	12	10	9	10	2	3	1	2	1	1	0	5	4	4	2	2	1	2	2	2	1	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:26812854A>G	ENST00000311550.5	-	7	820	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	GABRB3_ENST00000545868.1_Missense_Mutation_p.F152L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F166L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F237L|GABRB3_ENST00000541819.2_Missense_Mutation_p.F293L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	237					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAACCGAAAGCTCAGTGAC	0.418																																						uc001zbb.3																			0		p.H292Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(877-879)Ttt>Ctt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						122	104	110					15																	26812854		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812854A>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.709T>C	15.37:g.26812854A>G	ENSP00000308725:p.Phe237Leu					GABRB3_uc021sgg.1_Missense_Mutation_p.F166L|GABRB3_uc021sgh.1_Missense_Mutation_p.F152L|GABRB3_uc001zaz.3_Missense_Mutation_p.F237L|GABRB3_uc001zba.3_Missense_Mutation_p.F237L	p.F293L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	980	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	237					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.877T>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	A	34	5.331930	0.95733	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.87437	0.2392	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	293;237;237	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	237;293;237;166;152	ENSP00000308725:F237L;ENSP00000442408:F293L;ENSP00000299267:F237L;ENSP00000383049:F166L;ENSP00000439169:F152L	ENSP00000299267:F237L	F	-	1	0	GABRB3	24363947	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	TTT		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			G	26812854	A	G	26812854	3	3	41	1	0	0	0	0	1	0	0	0	6168	72	3	4	724	4	GABRB3	15	26812854	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4430341	26812854	75718538	59	2555											
TTBK2	146057	broad.mit.edu	37	chr15	43038437	43038437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggagttactactccctagGactttatatctgcgtagcct	8	14	8	11	2	1	0	0	0	1	0	3	2	2	2	2	2	4	2	2	2	6	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:43038437G>A	ENST00000267890.6	-	15	3399	c.3291C>T	c.(3289-3291)gtC>gtT	p.V1097V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1097			V -> A (in dbSNP:rs55796513). {ECO:0000269|PubMed:17344846}.		cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TACTCCCTAGGACTTTATATC	0.393																																						uc001zqo.2																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3289-3291)gtC>gtT		Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.							57	52	54					15																	43038437		1807	4062	5869	SO:0001819	synonymous_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038437G>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3291C>T	15.37:g.43038437G>A						TTBK2_uc010bcy.2_Silent_p.V1028V|DQ586540_uc001zqn.2_5'Flank	p.V1097V	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3730	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1097		V -> A (in dbSNP:rs55796513).			O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	c.3291C>T	CCDS42029.1																																																																																				0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		A	43038437	G	A	43038437	2	1	41	1	0	0	0	0	0	0	0	1	16674	1161	41	3		3	TTBK2	15	43038437	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	16225583	43038437	59492955	60	2556											
USP50	373509	broad.mit.edu	37	chr15	50838708	50838708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatctgcagggagagaCggctgagaagtcattttaat	13	10	12	6	1	3	2	2	1	1	2	3	5	3	3	0	2	1	2	0	2	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:50838708C>T	ENST00000532404.1	-	1	188	c.15G>A	c.(13-15)ccG>ccA	p.P5P	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	5					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CAGGGAGAGACGGCTGAGAAG	0.453																																						uc021sky.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(13-15)ccG>ccA		Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.							161	159	160					15																	50838708		2007	4204	6211	SO:0001819	synonymous_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50838708C>T	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.15G>A	15.37:g.50838708C>T						USP50_uc021skx.1_5'Flank	p.P5P	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	0	195	-			5					E9PP86	Silent	SNP	ENST00000532404.1	37	c.15G>A	CCDS53944.1																																																																																				0.453	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			T	50838708	C	T	50838708	2	4	41	1	0	0	0	0	0	0	0	1	17079	523	19	1		1	USP50	15	50838708	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	7800271	50838708	51692684	61	2557											
GRIN2A	2903	broad.mit.edu	37	chr16	9858210	9858210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgtggcccgatttgacGtttctgaaatgtcagagtgg	8	11	14	8	3	2	3	1	2	1	1	2	4	2	3	1	3	0	2	1	3	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:9858210G>A	ENST00000396573.2	-	14	3500	c.3191C>T	c.(3190-3192)aCg>aTg	p.T1064M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.T907M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1064M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1064M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1064M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1064M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1064					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGATTTGACGTTTCTGAAAT	0.507																																						uc010uym.2																			0		p.T1064T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3190-3192)aCg>aTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						130	127	128					16																	9858210		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858210G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3191C>T	16.37:g.9858210G>A	ENSP00000379818:p.Thr1064Met					GRIN2A_uc002czo.4_Missense_Mutation_p.T1064M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T907M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1064M	p.T1064M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	3501	-			1064					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3191C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	7.060	0.566233	0.13560	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11495	2.78;2.77;2.77;2.78;2.78	5.33	4.36	0.52297	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.378962	0.33691	N	0.004656	T	0.12817	0.0311	L	0.36672	1.1	0.27254	N	0.95882	P;P;P	0.48834	0.773;0.916;0.768	B;P;P	0.45971	0.333;0.463;0.499	T	0.04796	-1.0926	9	.	.	.	.	15.0063	0.71516	0.0:0.1431:0.8569:0.0	.	907;1064;1064	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	1064;1064;907;1064;1064	ENSP00000379818:T1064M;ENSP00000385872:T1064M;ENSP00000441572:T907M;ENSP00000332549:T1064M;ENSP00000379820:T1064M	.	T	-	2	0	GRIN2A	9765711	0.987000	0.35691	0.269000	0.24586	0.281000	0.26958	3.985000	0.56930	1.220000	0.43490	0.655000	0.94253	ACG		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9858210	G	A	9858210	3	1	41	1	0	0	0	0	1	0	0	0	6779	1145	40	1	1207	1	GRIN2A	16	9858210	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		9858210	80496543	62	2558											
HERPUD1	9709	broad.mit.edu	37	chr16	56973164	56973164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataggcctgaagctgcccaGcaggcattccaaggcctggg	9	7	13	12	0	0	1	0	1	0	0	1	1	1	1	4	4	3	3	4	4	4	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:56973164G>A	ENST00000439977.2	+	5	644	c.447G>A	c.(445-447)caG>caA	p.Q149Q	HERPUD1_ENST00000379792.2_Silent_p.Q124Q|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000300302.5_Silent_p.Q148Q|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.3_ENST00000565861.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AAGCTGCCCAGCAGGCATTCC	0.423			T	ERG	prostate																																	uc002eke.1				Dom	yes		16	16q12.2-q13	9709	T	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(445-447)caG>caA		Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.							122	132	129					16																	56973164		2198	4300	6498	SO:0001819	synonymous_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973164G>A	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.447G>A	16.37:g.56973164G>A						HERPUD1_uc002ekf.1_Silent_p.Q148Q|HERPUD1_uc002ekg.1_Silent_p.Q124Q|HERPUD1_uc010cco.1_Silent_p.Q210Q|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_5'UTR	p.Q149Q	NM_014685	NP_055500	Q15011	HERP1_HUMAN			4	856	+			149					E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	ENST00000439977.2	37	c.447G>A	CCDS10771.1																																																																																				0.423	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			A	56973164	G	A	56973164	2	1	41	1	0	0	0	0	0	0	0	1	7063	962	34	3		3	HERPUD1	16	56973164	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	47114954	56973164	33381589	63	2559											
TAT	6898	broad.mit.edu	37	chr16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatagccccagaagggCggactggccggagtccaggg	9	4	17	11	2	0	1	0	0	0	1	1	3	1	3	4	6	2	1	4	6	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:71603782C>T	ENST00000355962.4	-	10	1233	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	367					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCAGAAGGGCGGACTGGCCG	0.512																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(1099-1101)cGc>cAc		Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						53	44	47					16																	71603782		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71603782C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1100G>A	16.37:g.71603782C>T	ENSP00000348234:p.Arg367His						p.R367H	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	9	1199	-		Ovarian(137;0.125)	367					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.1100G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584805	0.28268	.	.	ENSG00000198650	ENST00000355962	D	0.90676	-2.71	5.69	3.41	0.39046	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199634	0.51477	N	0.000092	D	0.87657	0.6232	L	0.52905	1.665	0.43569	D	0.995894	B	0.15930	0.015	B	0.08055	0.003	D	0.85736	0.1334	10	0.62326	D	0.03	-8.0025	13.3825	0.60775	0.0:0.851:0.0:0.149	.	367	P17735	ATTY_HUMAN	H	367	ENSP00000348234:R367H	ENSP00000348234:R367H	R	-	2	0	TAT	70161283	0.984000	0.35163	1.000000	0.80357	0.980000	0.70556	1.910000	0.39927	1.410000	0.46936	-0.140000	0.14226	CGC		0.512	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71603782	C	T	71603782	3	4	41	1	0	0	0	0	1	0	0	0	15587	768	27	1	276	1	TAT	16	71603782	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	14630618	71603782	18750971	64	2560											
NF1	4763	broad.mit.edu	37	chr17	29677208	29677209	+	Frame_Shift_Ins	INS	-	-	A																															ttttccttttagctttacttINSacagtgtctgaagaagttcg																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:29677208_29677209insA	ENST00000358273.4	+	50	7712_7713	c.7329_7330insA	c.(7330-7332)acafs	p.T2444fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.T2423fs|NF1_ENST00000444181.2_Frame_Shift_Ins_p.T237fs|NF1_ENST00000417592.2_Frame_Shift_Ins_p.T157fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2444					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCTTTACTTACAGTGTCTGA	0.356			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CI992571	NF1	I		c.(7327-7332)cttacafs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29677208_29677209insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7330dupA	17.37:g.29677209_29677209dupA	ENSP00000351015:p.Thr2444fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Ins_p.L2422fs|NF1_uc010cso.3_Frame_Shift_Ins_p.L631fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	p.L2443fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	49	7712_7713	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2443					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.7329_7330insA	CCDS42292.1																																																																																				0.356	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29677209	-	A	29677208	7	5	41	1	0	1	1	0	0	0	0	0	10356	1741	61	0	7588	0	NF1	17	29677208	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08		29677208	51518002	65	2561											
MYO1D	4642	broad.mit.edu	37	chr17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtacttactggcttccGttttaccagctccactttcc	7	16	5	13	1	0	0	0	0	0	0	3	0	3	0	4	1	4	4	4	1	4	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:31105570G>A	ENST00000318217.5	-	3	630	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_ENST00000394649.4_Missense_Mutation_p.T21M|MYO1D_ENST00000583621.1_Missense_Mutation_p.T109M|MYO1D_ENST00000579584.1_Missense_Mutation_p.T109M	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	109	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(325-327)aCg>aTg		Homo sapiens myosin ID (MYO1D), mRNA.							147	129	135					17																	31105570		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31105570G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.326C>T	17.37:g.31105570G>A	ENSP00000324527:p.Thr109Met					MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		2	338	-			109			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.326C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879761	0.91740	.	.	ENSG00000176658	ENST00000318217	D	0.83837	-1.77	5.2	5.2	0.72013	Myosin head, motor domain (3);	0.000000	0.40640	U	0.001050	D	0.95182	0.8438	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96781	0.9575	10	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	20;109	Q7Z3N6;O94832	.;MYO1D_HUMAN	M	109	ENSP00000324527:T109M	ENSP00000324527:T109M	T	-	2	0	MYO1D	28129683	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.596000	0.98267	2.861000	0.98227	0.655000	0.94253	ACG		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			A	31105570	G	A	31105570	3	1	41	1	0	0	0	0	1	0	0	0	10071	1145	40	1	2774	1	MYO1D	17	31105570	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	1428362	31105570	50089640	66	2562											
HOXB13	10481	broad.mit.edu	37	chr17	46804366	46804366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtttcttgcggccgcgaCgaaaggcgcaggcgtcagga	7	7	16	11	7	2	0	1	0	1	0	2	3	2	1	1	4	2	2	1	4	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:46804366C>T	ENST00000290295.7	-	2	1225	c.641G>A	c.(640-642)cGt>cAt	p.R214H	PRAC2_ENST00000432056.1_RNA|PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	214					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGGCCGCGACGAAAGGCGCA	0.622																																						uc002ioa.3																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(640-642)cGt>cAt		Homo sapiens homeobox B13 (HOXB13), mRNA.							61	58	59					17																	46804366		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46804366C>T	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.641G>A	17.37:g.46804366C>T	ENSP00000290295:p.Arg214His					MIR3185_uc021tzl.1_5'Flank	p.R214H	NM_006361	NP_006352	Q92826	HXB13_HUMAN			1	797	-			214					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.641G>A	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174043	0.78452	.	.	ENSG00000159184	ENST00000290295	D	0.95949	-3.86	5.31	4.28	0.50868	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94006	0.8080	M	0.81112	2.525	0.58432	D	0.999997	P	0.46395	0.877	B	0.36666	0.23	D	0.93715	0.7027	10	0.87932	D	0	.	12.5383	0.56154	0.0:0.9125:0.0:0.0875	.	214	Q92826	HXB13_HUMAN	H	214	ENSP00000290295:R214H	ENSP00000290295:R214H	R	-	2	0	HOXB13	44159365	1.000000	0.71417	0.980000	0.43619	0.946000	0.59487	5.886000	0.69743	1.353000	0.45828	0.655000	0.94253	CGT		0.622	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		T	46804366	C	T	46804366	3	4	41	1	0	0	0	0	1	0	0	0	7300	536	19	1	217	1	HOXB13	17	46804366	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	15698796	46804366	34390844	67	2563											
ANKRD30B	374860	broad.mit.edu	37	chr18	14851607	14851607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagtagccacactgaaaCatcaacaccaggtgaaggaa	17	5	10	9	0	1	2	1	2	0	0	1	4	1	4	2	3	3	1	2	3	6	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:14851607C>T	ENST00000358984.4	+	36	3487	c.3307C>T	c.(3307-3309)Cat>Tat	p.H1103Y		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1103										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACACTGAAACATCAACACCA	0.343																																						uc010dlo.2																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3307-3309)Cat>Tat		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							50	41	44					18																	14851607		692	1590	2282	SO:0001583	missense	374860							g.chr18:14851607C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3307C>T	18.37:g.14851607C>T	ENSP00000351875:p.His1103Tyr					ANKRD30B_uc021uhy.1_Missense_Mutation_p.H1103Y|ANKRD30B_uc010xal.1_Missense_Mutation_p.H245Y	p.H1103Y	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			35	3487	+			1188					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3307C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	2.101	-0.406072	0.04832	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14144	2.53	1.48	-1.63	0.08345	.	.	.	.	.	T	0.07728	0.0194	L	0.42245	1.32	0.09310	N	1	B;P	0.38148	0.001;0.62	B;B	0.25405	0.001;0.06	T	0.21895	-1.0232	9	0.56958	D	0.05	.	2.709	0.05169	0.3169:0.2359:0.0:0.4471	.	1188;1103	Q9BXX2;F8WAG3	AN30B_HUMAN;.	Y	1103;497;523	ENSP00000351875:H1103Y	ENSP00000277669:H523Y	H	+	1	0	ANKRD30B	14841607	0.973000	0.33851	0.004000	0.12327	0.103000	0.19146	0.443000	0.21644	-0.403000	0.07622	0.173000	0.16961	CAT		0.343	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		T	14851607	C	T	14851607	3	4	41	1	0	0	0	0	1	0	0	0	659	478	17	3	3449	3	ANKRD30B	18	14851607	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		14851607	63225641	68	2564											
DSG3	1830	broad.mit.edu	37	chr18	29052301	29052301	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggttctactgggggagTgacaggtggttttatcccag	7	11	16	7	0	1	1	0	1	1	0	2	2	2	2	1	6	1	3	1	6	2	4	rs113457225		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:29052301T>A	ENST00000257189.4	+	13	2035	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	651					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGGGGGAGTGACAGGTGGT	0.478																																						uc002kws.3																			0		p.G650V(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1951-1953)gTg>gAg		Homo sapiens desmoglein 3 (DSG3), mRNA.							109	113	112					18																	29052301		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052301T>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1952T>A	18.37:g.29052301T>A	ENSP00000257189:p.Val651Glu					DSG3_uc002kwt.3_5'Flank	p.V651E	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	2061	+			651					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1952T>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381269	0.42207	.	.	ENSG00000134757	ENST00000257189	T	0.59364	0.27	5.73	-4.17	0.03857	.	2.155680	0.02678	N	0.109353	T	0.48169	0.1485	L	0.50333	1.59	0.09310	N	1	B	0.33413	0.411	B	0.32465	0.146	T	0.28138	-1.0053	10	0.19590	T	0.45	.	8.5788	0.33614	0.0:0.451:0.245:0.3039	.	651	P32926	DSG3_HUMAN	E	651	ENSP00000257189:V651E	ENSP00000257189:V651E	V	+	2	0	DSG3	27306299	0.001000	0.12720	0.000000	0.03702	0.245000	0.25701	0.193000	0.17116	-1.012000	0.03387	0.383000	0.25322	GTG		0.478	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29052301	T	A	29052301	3	1	41	1	0	0	0	0	1	0	0	0	4778	1696	59	5	2002	5	DSG3	18	29052301	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	14200694	29052301	49024947	69	2565											
LPHN1	22859	broad.mit.edu	37	chr19	14261968	14261968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcatagagggagtccCggccaggaggggaggagagg	9	3	21	8	2	0	2	0	0	0	2	1	6	1	5	2	8	0	2	2	8	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:14261968C>T	ENST00000340736.6	-	24	4439	c.4142G>A	c.(4141-4143)cGg>cAg	p.R1381Q	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1376Q|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1381					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGGAGTCCCGGCCAGGAGG	0.731																																						uc010xnn.2																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(4141-4143)cGg>cAg		Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.							7	8	8					19																	14261968		2079	4111	6190	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14261968C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4142G>A	19.37:g.14261968C>T	ENSP00000340688:p.Arg1381Gln					LPHN1_uc010xno.2_Missense_Mutation_p.R1376Q|LOC100507373_uc002myf.3_Intron	p.R1381Q	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			23	4438	-			1381					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.4142G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678218	0.68042	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.76578	-1.03;-1.03	4.07	4.07	0.47477	GPCR, family 2, latrophilin, C-terminal (1);	0.070853	0.56097	D	0.000026	D	0.86385	0.5920	M	0.72118	2.19	0.49051	D	0.99974	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88186	0.2874	10	0.87932	D	0	.	13.7491	0.62897	0.0:1.0:0.0:0.0	.	1376;1381	O94910-2;O94910	.;LPHN1_HUMAN	Q	1381;1376	ENSP00000340688:R1381Q;ENSP00000355328:R1376Q	ENSP00000340688:R1381Q	R	-	2	0	LPHN1	14122968	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.198000	0.58419	1.811000	0.52892	0.205000	0.17691	CGG		0.731	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14261968	C	T	14261968	3	4	41	1	0	0	0	0	1	0	0	0	8915	652	23	2	286	2	LPHN1	19	14261968	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		14261968	44867015	70	2566											
CYP4F3	4051	broad.mit.edu	37	chr19	15770048	15770048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaactgcatcgggcaggcGttcgcgatggcggagatgaa	10	6	17	8	5	0	2	0	1	0	1	2	5	0	3	0	5	2	3	0	5	2	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15770048G>A	ENST00000221307.8	+	13	1463	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	CYP4F3_ENST00000591058.1_Silent_p.A472A|CYP4F3_ENST00000586182.2_Silent_p.A472A|CYP4F3_ENST00000585846.1_Silent_p.A472A	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	472					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCGGGCAGGCGTTCGCGATGG	0.672																																						uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1414-1416)gcG>gcA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.							24	26	25					19																	15770048		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15770048G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1416G>A	19.37:g.15770048G>A						CYP4F3_uc010xol.2_Silent_p.A472A|CYP4F3_uc002nbj.3_Silent_p.A472A|CYP4F3_uc010xom.2_Silent_p.A323A|CYP4F3_uc002nbk.3_Silent_p.A472A|CYP4F3_uc010xon.2_Silent_p.A182A	p.A472A	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			12	1466	+			472					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1416G>A	CCDS12332.1																																																																																				0.672	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15770048	G	A	15770048	2	1	41	1	0	0	0	0	0	0	0	1	4190	1132	40	1		1	CYP4F3	19	15770048	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	1508080	15770048	43358935	71	2567											
CYP4F2	8529	broad.mit.edu	37	chr19	15989728	15989728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctccgccatcgcgaaCgtctgcccgatgcagttcct	6	11	8	16	5	3	0	1	0	2	0	6	2	4	0	4	0	3	2	4	0	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15989728C>T	ENST00000221700.6	-	13	1511	c.1416G>A	c.(1414-1416)acG>acA	p.T472T		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCGCGAACGTCTGCCCGA	0.672																																						uc002nbs.1																			0		p.T472A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1414-1416)acG>acA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.							46	44	45					19																	15989728		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989728C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1416G>A	19.37:g.15989728C>T						CYP4F2_uc010xot.1_Silent_p.T323T	p.T472T	NM_001082	NP_001073	P78329	CP4F2_HUMAN			12	1466	-			472						Silent	SNP	ENST00000221700.6	37	c.1416G>A	CCDS12336.1																																																																																				0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		T	15989728	C	T	15989728	2	4	41	1	0	0	0	0	0	0	0	1	4188	523	19	1		1	CYP4F2	19	15989728	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	219680	15989728	43139255	72	2568											
ZNF430	80264	broad.mit.edu	37	chr19	21239692	21239692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttataaattttcaaatccaaAtatacaaaagataagacata	22	12	2	5	0	1	2	1	0	0	2	2	2	2	2	1	0	1	0	1	0	11	8			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:21239692A>G	ENST00000261560.5	+	5	759	c.578A>G	c.(577-579)aAt>aGt	p.N193S	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	193					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAATCCAAATATACAAAAG	0.279																																						uc002npj.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(577-579)aAt>aGt		Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.							24	25	25					19																	21239692		2193	4284	6477	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239692A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.578A>G	19.37:g.21239692A>G	ENSP00000261560:p.Asn193Ser					ZNF430_uc002npk.3_Missense_Mutation_p.N192S	p.N193S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			4	759	+			193					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.578A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	4.580	0.107662	0.08780	.	.	ENSG00000118620	ENST00000261560	T	0.48522	0.81	0.421	0.421	0.16451	.	.	.	.	.	T	0.54078	0.1836	L	0.57536	1.79	0.09310	N	1	D;P	0.63880	0.993;0.85	D;P	0.68192	0.956;0.507	T	0.39860	-0.9593	9	0.33141	T	0.24	.	2.5045	0.04641	0.5479:1.0E-4:0.0:0.452	.	192;193	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	S	193	ENSP00000261560:N193S	ENSP00000261560:N193S	N	+	2	0	ZNF430	21031532	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.759000	0.04761	0.383000	0.24910	0.374000	0.22700	AAT		0.279	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		G	21239692	A	G	21239692	3	3	41	1	0	0	0	0	1	0	0	0	17901	101	4	4	596	4	ZNF430	19	21239692	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	5249964	21239692	37889291	73	2569											
IRGC	56269	broad.mit.edu	37	chr19	44223553	44223553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcatccaggccctgccGgtcccagggctggcggccgc	3	5	16	17	4	1	0	1	0	0	0	3	0	3	0	5	6	1	1	5	6	0	0	rs201293395		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:44223553G>A	ENST00000244314.5	+	2	1042	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	281						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGGCCCTGCCGGTCCCAGGGC	0.632																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(841-843)ccG>ccA		Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.							56	55	55					19																	44223553		2202	4297	6499	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223553G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.843G>A	19.37:g.44223553G>A						IRGC_uc021uvh.1_Silent_p.P281P	p.P281P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			1	990	+		Prostate(69;0.0435)	281					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.843G>A	CCDS12629.1																																																																																				0.632	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		A	44223553	G	A	44223553	2	1	41	1	0	0	0	0	0	0	0	1	7838	1103	39	2		2	IRGC	19	44223553	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	22983861	44223553	14905430	74	2570											
ZNF296	162979	broad.mit.edu	37	chr19	45575604	45575605	+	Frame_Shift_Ins	INS	-	-	G																															aggacaggtggggctccgccINSgggtgaggccgctgccactt																								rs538797316		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:45575604_45575605insG	ENST00000303809.2	-	3	896_897	c.682_683insC	c.(682-684)cggfs	p.R228fs		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	228					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGGGCTCCGCCGGGTGAGGCCG	0.678																																						uc002pao.3																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(682-684)cggfs		Homo sapiens zinc finger protein 296 (ZNF296), mRNA.																																				SO:0001589	frameshift_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575604_45575605insG	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.683dupC	19.37:g.45575607_45575607dupG	ENSP00000302770:p.Arg228fs						p.R228fs	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN			2	739_740	-			228						Frame_Shift_Ins	INS	ENST00000303809.2	37	c.682_683insC	CCDS12653.1																																																																																				0.678	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		G	45575605	-	G	45575604	7	5	41	1	0	1	1	0	0	0	0	0	17825	652	23	0	748	0	ZNF296	19	45575604	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08	1352051	45575604	13553379	75	2571											
PLCG1	5335	broad.mit.edu	37	chr20	39801169	39801169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagttccttcagtacaatcGactgcagctctcccgcatct	9	11	7	14	2	3	0	1	0	2	0	6	2	4	0	2	0	3	5	2	0	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr20:39801169G>A	ENST00000373271.1	+	26	3419	c.3014G>A	c.(3013-3015)cGa>cAa	p.R1005Q	PLCG1_ENST00000373272.2_Missense_Mutation_p.R1005Q|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.R1005Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1005	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGTACAATCGACTGCAGCTC	0.542																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3013-3015)cGa>cAa		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							71	65	67					20																	39801169		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39801169G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3014G>A	20.37:g.39801169G>A	ENSP00000362368:p.Arg1005Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.R1005Q|PLCG1_uc010zwe.1_Missense_Mutation_p.R631Q	p.R1005Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			25	3135	+		Myeloproliferative disorder(115;0.00878)	1005			PI-PLC Y-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3014G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066787	0.55539	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.67698	-0.28;-0.28;-0.28	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	N	0.21448	0.665	0.80722	D	1	P;P;P	0.41393	0.531;0.748;0.586	B;B;B	0.38616	0.181;0.277;0.277	T	0.51004	-0.8760	10	0.12430	T	0.62	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	1005;1005;1005	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Q	1005	ENSP00000244007:R1005Q;ENSP00000362368:R1005Q;ENSP00000362369:R1005Q	ENSP00000244007:R1005Q	R	+	2	0	PLCG1	39234583	1.000000	0.71417	0.891000	0.34965	0.992000	0.81027	6.735000	0.74806	2.757000	0.94681	0.655000	0.94253	CGA		0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39801169	G	A	39801169	3	1	41	1	0	0	0	0	1	0	0	0	12035	1058	37	2	3116	2	PLCG1	20	39801169	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		39801169	23224351	76	2572											
TMPRSS15	5651	broad.mit.edu	37	chr21	19647560	19647560	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagcctgcacatatcataTtttcagtaatgttatattct	12	17	4	8	0	3	0	2	0	1	0	3	0	3	0	1	0	2	3	1	0	6	9			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:19647560T>A	ENST00000284885.3	-	24	2891	c.2858A>T	c.(2857-2859)aAt>aTt	p.N953I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	953	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACATATCATATTTTCAGTAAT	0.383																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2857-2859)aAt>aTt		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							182	174	177					21																	19647560		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19647560T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2858A>T	21.37:g.19647560T>A	ENSP00000284885:p.Asn953Ile						p.N953I	NM_002772	NP_002763	P98073	ENTK_HUMAN			23	2889	-			953			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2858A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398569	0.62177	.	.	ENSG00000154646	ENST00000284885	D	0.93811	-3.29	5.46	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.372137	0.29113	N	0.013118	D	0.94709	0.8293	M	0.62266	1.93	0.32445	N	0.546165	D	0.67145	0.996	D	0.68192	0.956	D	0.93541	0.6878	9	.	.	.	.	8.9815	0.35968	0.0:0.1548:0.0:0.8452	.	953	P98073	ENTK_HUMAN	I	953	ENSP00000284885:N953I	.	N	-	2	0	TMPRSS15	18569431	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.273000	0.43381	0.452000	0.26830	0.528000	0.53228	AAT		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19647560	T	A	19647560	3	1	41	1	0	0	0	0	1	0	0	0	16243	1493	52	5	209	5	TMPRSS15	21	19647560	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		19647560	28482335	77	2573											
MX2	4600	broad.mit.edu	37	chr21	42778692	42778692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgattgaagacataaaaGtgaaacacacagcaaaggca	20	4	9	8	1	0	3	0	2	0	1	0	4	0	3	0	1	2	3	0	1	5	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:42778692G>A	ENST00000330714.3	+	13	1856	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	558					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGACATAAAAGTGAAACACAC	0.343																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1672-1674)Gtg>Atg		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							112	99	103					21																	42778692		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42778692G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1672G>A	21.37:g.42778692G>A	ENSP00000333657:p.Val558Met					MX2_uc002yzg.1_Missense_Mutation_p.V281M|MX2_uc010gop.1_Missense_Mutation_p.V40M	p.V558M	NM_002463	NP_002454	P20592	MX2_HUMAN			12	1776	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	558					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1672G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059784	0.19987	.	.	ENSG00000183486	ENST00000330714;ENST00000398632	T	0.73047	-0.71	4.19	-7.97	0.01139	Dynamin central domain (1);	1.426930	0.04288	N	0.345073	T	0.45074	0.1324	N	0.14661	0.345	0.09310	N	0.999995	B	0.06786	0.001	B	0.16722	0.016	T	0.23904	-1.0175	10	0.46703	T	0.11	.	1.2475	0.01975	0.236:0.2379:0.3745:0.1516	.	558	P20592	MX2_HUMAN	M	558;32	ENSP00000333657:V558M	ENSP00000333657:V558M	V	+	1	0	MX2	41700562	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.912000	0.00336	-1.171000	0.02765	-0.224000	0.12420	GTG		0.343	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		A	42778692	G	A	42778692	3	1	41	1	0	0	0	0	1	0	0	0	9998	1029	36	3	1718	3	MX2	21	42778692	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	23131132	42778692	5351203	78	2574											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978487	45978487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcagggggccggggCgcagcagctggtggcgcagc	5	3	22	11	3	1	0	1	0	0	0	1	0	1	0	1	8	3	5	1	8	0	0	rs587776082|rs386819171		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:45978487C>T	ENST00000391620.1	-	1	156	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	38	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A38S(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGGCCGGGGCGCAGCAGCTG	0.697													c|||	1	0.000199681	0	0	5008	,	,		14269	0		0	False		,,,				2504	0.001					uc002zfj.1																			1	Substitution - Missense(1)	p.A38S(2)	lung(1)	kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(112-114)Gcc>Acc		Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.							25	27	26					21																	45978487		2148	4234	6382	SO:0001583	missense	386682					keratin filament		g.chr21:45978487C>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.112G>A	21.37:g.45978487C>T	ENSP00000375478:p.Ala38Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A38T	NM_198696	NP_941969	P60369	KR103_HUMAN			0	157	-			38			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.112G>A	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0.918	-0.716856	0.03206	.	.	ENSG00000212935	ENST00000391620	T	0.04654	3.58	3.49	-0.986	0.10252	.	.	.	.	.	T	0.03305	0.0096	L	0.39020	1.185	0.18873	N	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	9	0.15066	T	0.55	.	3.3581	0.07176	0.0:0.3889:0.2077:0.4034	.	38	P60369	KR103_HUMAN	T	38	ENSP00000375478:A38T	ENSP00000375478:A38T	A	-	1	0	KRTAP10-3	44802915	0.000000	0.05858	0.669000	0.29828	0.102000	0.19082	-3.095000	0.00607	-0.010000	0.14271	-0.231000	0.12243	GCC		0.697	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			T	45978487	C	T	45978487	3	4	41	1	0	0	0	0	1	0	0	0	8510	768	27	1	557	1	KRTAP10-3	21	45978487	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	3199795	45978487	2151408	79	2575											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951019	30951019	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtccatcaggtactggAtctcgggcgtgagcatgcgc	7	8	15	11	4	2	1	1	1	1	0	4	3	3	2	1	4	3	2	1	4	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr22:30951019A>C	ENST00000402321.1	-	3	1510	c.1193T>G	c.(1192-1194)aTc>aGc	p.I398S	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.I398S|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.I398S			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	398					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGTACTGGATCTCGGGCGT	0.642																																						uc003aig.1																			0		p.E397*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1192-1194)aTc>aGc		Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.							57	52	54					22																	30951019		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951019A>C	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1193T>G	22.37:g.30951019A>C	ENSP00000385735:p.Ile398Ser					GAL3ST1_uc003aih.1_Missense_Mutation_p.I398S|GAL3ST1_uc003aii.1_Missense_Mutation_p.I398S|GAL3ST1_uc010gvz.1_Missense_Mutation_p.I398S	p.I398S	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			3	1333	-			398					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1193T>G	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.372276	0.82573	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.73	5.73	0.89815	.	0.107189	0.64402	D	0.000006	T	0.42743	0.1216	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.25882	-1.0119	10	0.45353	T	0.12	-6.0494	15.66	0.77178	1.0:0.0:0.0:0.0	.	398	Q99999	G3ST1_HUMAN	S	398	ENSP00000385825:I398S;ENSP00000385735:I398S;ENSP00000384122:I398S;ENSP00000384388:I398S;ENSP00000343234:I398S;ENSP00000385207:I398S;ENSP00000402587:I398S	ENSP00000343234:I398S	I	-	2	0	GAL3ST1	29281019	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.200000	0.95010	2.183000	0.69458	0.459000	0.35465	ATC		0.642	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		C	30951019	A	C	30951019	3	2	41	1	0	0	0	0	1	0	0	0	6197	333	12	5	82	5	GAL3ST1	22	30951019	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08		30951019	20353547	80	2576											
CYBB	1536	broad.mit.edu	37	chrX	37663372	37663372	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggagtttcaagatgcgtgGaaactacctaagtgagtaaa	15	9	11	6	1	1	2	1	1	0	1	1	4	1	4	1	2	3	2	1	2	6	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:37663372G>A	ENST00000378588.4	+	9	1207	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CYBB_ENST00000545017.1_Nonsense_Mutation_p.W348*|CYBB_ENST00000536160.1_Nonsense_Mutation_p.W113*|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	380	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AAGATGCGTGGAAACTACCTA	0.423																																						uc004ddr.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(1138-1140)tgG>tgA		Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.							67	62	64					X																	37663372		2202	4300	6502	SO:0001587	stop_gained	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663372G>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1140G>A	X.37:g.37663372G>A	ENSP00000367851:p.Trp380*					CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Nonsense_Mutation_p.W348*|CYBB_uc011mkg.1_Nonsense_Mutation_p.W113*	p.W380*	NM_000397	NP_000388	P04839	CY24B_HUMAN			8	1201	+			380			FAD-binding FR-type.		A8K138|Q2PP16	Nonsense_Mutation	SNP	ENST00000378588.4	37	c.1140G>A	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	39	7.902696	0.98551	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	.	.	.	X	380;348;113	.	ENSP00000367851:W380X	W	+	3	0	CYBB	37548316	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.654000	0.91092	2.430000	0.82344	0.544000	0.68410	TGG		0.423	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			A	37663372	G	A	37663372	4	1	41	1	0	0	0	0	0	1	0	0	4133	1183	41	3	1174	3	CYBB	23	37663372	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		37663372	117607188	81	2577											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913863	77913863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactgcacttgagcctgccGaatttcattctccaatttca	9	13	5	14	1	3	1	2	1	1	0	4	2	3	1	4	0	3	1	4	0	2	4	rs148985625		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:77913863G>A	ENST00000321110.1	-	2	350	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	19							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAGCCTGCCGAATTTCATTC	0.463																																						uc022bzi.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(55-57)Cgg>Tgg		Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.							52	43	46					X																	77913863		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913863G>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.55C>T	X.37:g.77913863G>A	ENSP00000316794:p.Arg19Trp					ZCCHC5_uc004edc.1_Missense_Mutation_p.R19W	p.R19W	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			0	55	-			19					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.55C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154098	0.21371	.	.	ENSG00000179300	ENST00000321110	T	0.18810	2.19	3.24	2.37	0.29283	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.22591	N	0.998954	B	0.33904	0.431	B	0.29942	0.109	T	0.20472	-1.0274	9	0.87932	D	0	.	5.7017	0.17885	0.152:0.0:0.848:0.0	.	19	Q8N8U3	ZCHC5_HUMAN	W	19	ENSP00000316794:R19W	ENSP00000316794:R19W	R	-	1	2	ZCCHC5	77800519	1.000000	0.71417	0.999000	0.59377	0.490000	0.33462	1.322000	0.33689	0.749000	0.32854	0.513000	0.50165	CGG		0.463	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		A	77913863	G	A	77913863	3	1	41	1	0	0	0	0	1	0	0	0	17588	1057	37	2	1376	2	ZCCHC5	23	77913863	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	40250491	77913863	77356697	82	2578											
GPR174	84636	broad.mit.edu	37	chrX	78426556	78426556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggagacaatacagattttCgatactttatttatgcagtg	13	15	8	5	1	0	2	0	0	0	2	1	4	0	2	0	1	3	1	0	1	5	8			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:78426556C>T	ENST00000276077.1	+	1	88	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R18*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TACAGATTTTCGATACTTTAT	0.383										HNSCC(63;0.18)																												uc004edg.1																			1	Substitution - Nonsense(1)	p.R18*(2)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(52-54)Cga>Tga		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							108	92	97					X																	78426556		2203	4300	6503	SO:0001587	stop_gained	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426556C>T	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.52C>T	X.37:g.78426556C>T	ENSP00000276077:p.Arg18*	HNSCC(63;0.18)					p.R18*	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			0	88	+			18					Q2M3F7	Nonsense_Mutation	SNP	ENST00000276077.1	37	c.52C>T	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381352	0.42207	.	.	ENSG00000147138	ENST00000276077	.	.	.	5.0	3.18	0.36537	.	0.325448	0.24933	N	0.034445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	7.9489	0.30003	0.4536:0.401:0.1453:0.0	.	.	.	.	X	18	.	ENSP00000276077:R18X	R	+	1	2	GPR174	78313212	1.000000	0.71417	0.899000	0.35326	0.142000	0.21351	1.998000	0.40796	0.339000	0.23719	-0.341000	0.08007	CGA		0.383	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		T	78426556	C	T	78426556	4	4	41	1	0	0	0	0	0	1	0	0	6672	876	31	2	54	2	GPR174	23	78426556	Nonsense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	512693	78426556	76844004	83	2579											
NKAP	79576	broad.mit.edu	37	chrX	119077554	119077554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatccgggctgcgtgagccGgacaccggagccatggctac	7	6	14	14	4	0	1	0	1	0	0	1	3	1	3	4	4	4	2	4	4	2	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:119077554G>A	ENST00000371410.3	-	1	181	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	5	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGCGTGAGCCGGACACCGGAG	0.692																																						uc004esh.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(13-15)tcC>tcT		Homo sapiens NFKB activating protein (NKAP), mRNA.							14	16	15					X																	119077554		2137	4152	6289	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077554G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.15C>T	X.37:g.119077554G>A							p.S5S	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			0	182	-			5			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.15C>T	CCDS14592.1																																																																																				0.692	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		A	119077554	G	A	119077554	2	1	41	1	0	0	0	0	0	0	0	1	10439	1103	39	2		2	NKAP	23	119077554	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	40650998	119077554	36193006	84	2580											
GJB5	2709	broad.mit.edu	37	chr1	35223555	35223555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggagctcatctacctGgtgagcaagagatgccacga	10	8	12	11	2	2	2	1	1	1	1	3	5	2	3	2	2	4	2	2	2	2	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:35223555G>A	ENST00000338513.1	+	2	797	c.624G>A	c.(622-624)ctG>ctA	p.L208L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	208					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTACCTGGTGAGCAAGA	0.552																																						uc001bxu.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(622-624)ctG>ctA		Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.							130	107	115					1																	35223555		2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223555G>A	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.624G>A	1.37:g.35223555G>A						GJB5_uc021okz.1_Silent_p.L208L|GJB4_uc001bxv.1_5'Flank	p.L208L	NM_005268	NP_005259	O95377	CXB5_HUMAN			1	724	+		Myeloproliferative disorder(586;0.0393)	208					Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.624G>A	CCDS382.1																																																																																				0.552	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		A	35223555	G	A	35223555	2	1	42	1	0	0	0	0	0	0	0	1	6411	1335	47	3		3	GJB5	1	35223555	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		35223555	214027066	1	2581											
DMAP1	55929	broad.mit.edu	37	chr1	44684377	44684377	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttgatgctgggcacgaaCgacggcggaaggaacagctt	11	8	14	8	4	0	1	0	1	0	0	0	5	0	3	0	4	4	3	0	4	4	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:44684377C>T	ENST00000372289.2	+	5	933	c.670C>T	c.(670-672)Cga>Tga	p.R224*	DMAP1_ENST00000315913.5_Nonsense_Mutation_p.R224*|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Nonsense_Mutation_p.R224*	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	224					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGGGCACGAACGACGGCGGAA	0.572											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001clq.1																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(670-672)Cga>Tga		Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.							120	113	116					1																	44684377		2203	4300	6503	SO:0001587	stop_gained	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44684377C>T	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.670C>T	1.37:g.44684377C>T	ENSP00000361363:p.Arg224*		OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_uc010okt.1_3'UTR|DMAP1_uc001clr.1_Nonsense_Mutation_p.R224*|DMAP1_uc001cls.1_Nonsense_Mutation_p.R224*|DMAP1_uc010oku.1_Nonsense_Mutation_p.R214*	p.R224*	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN			5	750	+	Acute lymphoblastic leukemia(166;0.155)		224					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Nonsense_Mutation	SNP	ENST00000372289.2	37	c.670C>T	CCDS509.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901053	0.92035	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289	.	.	.	5.79	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6821	8.9151	0.35576	0.4641:0.42:0.1159:0.0	.	.	.	.	X	224;224;250;224;250;224;224	.	ENSP00000312697:R224X	R	+	1	2	DMAP1	44456964	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.739000	0.47409	1.388000	0.46506	0.655000	0.94253	CGA		0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		T	44684377	C	T	44684377	4	4	42	1	0	0	0	0	0	1	0	0	4576	528	19	1	688	1	DMAP1	1	44684377	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	9460822	44684377	204566244	2	2582											
FLG	2312	broad.mit.edu	37	chr1	152286042	152286042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcagcccagcctttccGtggcctgacactgattgtgt	5	13	10	13	1	1	2	1	2	1	0	3	2	2	2	4	1	2	0	4	1	0	2	rs376019219		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:152286042G>A	ENST00000368799.1	-	3	1355	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	440	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTTTCCGTGGCCTGACA	0.592									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1318-1320)caC>caT		Homo sapiens filaggrin (FLG), mRNA.		G		0,4406		0,0,2203	203	199	201		1320	-6.3	0	1		201	2,8598		0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		440/4062	152286042	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286042G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1320C>T	1.37:g.152286042G>A						AK056431_uc001ezv.3_Non-coding_Transcript	p.H440H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1356	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		440			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1320C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152286042	G	A	152286042	2	1	42	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152286042	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	107601665	152286042	96964579	3	2583											
NES	10763	broad.mit.edu	37	chr1	156640774	156640774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccctggggccacatcaTcttccaccaggggctctatc	7	8	8	18	0	3	0	1	0	2	0	5	0	4	0	5	4	0	1	5	4	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:156640774T>A	ENST00000368223.3	-	4	3338	c.3206A>T	c.(3205-3207)gAt>gTt	p.D1069V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1069	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCACATCATCTTCCACCAG	0.682																																						uc001fpq.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(3205-3207)gAt>gTt		Homo sapiens nestin (NES), mRNA.							24	28	27					1																	156640774		2198	4288	6486	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640774T>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3206A>T	1.37:g.156640774T>A	ENSP00000357206:p.Asp1069Val					NES_uc021pbh.1_5'Flank	p.D1069V	NM_006617	NP_006608	P48681	NEST_HUMAN			3	3339	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1069			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3206A>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963751	0.53507	.	.	ENSG00000132688	ENST00000368223	D	0.87179	-2.22	5.25	-4.18	0.03846	.	1.364740	0.05267	N	0.516861	T	0.50051	0.1593	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.47787	-0.9090	10	0.72032	D	0.01	.	2.0631	0.03596	0.1283:0.3388:0.1317:0.4013	.	1069	P48681	NEST_HUMAN	V	1069	ENSP00000357206:D1069V	ENSP00000357206:D1069V	D	-	2	0	NES	154907398	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.434000	0.06939	-0.686000	0.05170	-0.490000	0.04691	GAT		0.682	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		A	156640774	T	A	156640774	3	1	42	1	0	0	0	0	1	0	0	0	10337	1435	50	5	1663	5	NES	1	156640774	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	4354732	156640774	92609847	4	2584											
C1orf129	80133	broad.mit.edu	37	chr1	170961421	170961421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatggaggacaccgtaaCggaagggaaacgtttctctc	13	7	13	8	3	1	0	0	0	1	0	3	5	1	5	1	5	2	2	1	5	4	2	rs201493255		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:170961421C>T	ENST00000367758.3	+	12	1244	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	MROH9_ENST00000367759.4_Missense_Mutation_p.T382M	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	382																	GACACCGTAACGGAAGGGAAA	0.468																																						uc010plz.2																			0		p.V381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(1144-1146)aCg>aTg		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.							158	161	160					1																	170961421		1984	4151	6135	SO:0001583	missense	80133						binding	g.chr1:170961421C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1145C>T	1.37:g.170961421C>T	ENSP00000356732:p.Thr382Met					C1orf129_uc001ghg.3_Missense_Mutation_p.T382M|C1orf129_uc009wvy.3_Missense_Mutation_p.T189M	p.T382M	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			11	1299	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		382					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1145C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049099	0.19827	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.15952	3.93;2.38	5.61	-11.2	0.00127	.	2.337330	0.01243	N	0.008677	T	0.01353	0.0044	N	0.11560	0.145	0.09310	N	1	P;B	0.34864	0.473;0.181	B;B	0.16289	0.015;0.015	T	0.26780	-1.0093	10	0.31617	T	0.26	2.2981	3.9803	0.09492	0.3491:0.4177:0.0922:0.1411	.	382;382	F5GWX6;Q5TGP6	.;CA129_HUMAN	M	382	ENSP00000356733:T382M;ENSP00000356732:T382M	ENSP00000356732:T382M	T	+	2	0	C1orf129	169228045	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.365000	0.00496	-1.924000	0.01064	-0.469000	0.05056	ACG		0.468	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170961421	C	T	170961421	3	4	42	1	0	0	0	0	1	0	0	0	1996	536	19	1	1187	1	C1orf129	1	170961421	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	14320647	170961421	78289200	5	2585											
LHX9	56956	broad.mit.edu	37	chr1	197896816	197896816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaacctctttcaagcatCaccagctccggaccatgaaa	12	8	7	14	2	3	1	2	1	1	0	4	3	4	2	4	1	4	2	4	1	3	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:197896816C>A	ENST00000367387.4	+	4	1254	c.829C>A	c.(829-831)Cac>Aac	p.H277N	LHX9_ENST00000337020.2_Missense_Mutation_p.H277N|LHX9_ENST00000367390.3_Missense_Mutation_p.H268N|LHX9_ENST00000561173.1_Missense_Mutation_p.H283N|LHX9_ENST00000367391.1_Missense_Mutation_p.H268N	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	277					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCAAGCATCACCAGCTCCG	0.527																																						uc001guk.1																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(829-831)Cac>Aac		Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.							214	206	209					1																	197896816		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896816C>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.829C>A	1.37:g.197896816C>A	ENSP00000356357:p.His277Asn					LHX9_uc001gui.1_Missense_Mutation_p.H268N|LHX9_uc021pgw.1_Non-coding_Transcript	p.H277N	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	1266	+			277					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.829C>A	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153119	0.94645	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	N	0.13043	0.29	0.80722	D	1	D;D;D	0.54207	0.965;0.963;0.957	D;P;P	0.63877	0.919;0.845;0.828	D	0.95983	0.8979	10	0.62326	D	0.03	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	277;268;268	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	N	268;268;277;277	ENSP00000356361:H268N;ENSP00000356360:H268N;ENSP00000337969:H277N;ENSP00000356357:H277N	ENSP00000337969:H277N	H	+	1	0	LHX9	196163439	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	CAC		0.527	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		A	197896816	C	A	197896816	3	1	42	1	0	0	0	0	1	0	0	0	8777	826	29	5	875	5	LHX9	1	197896816	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	26935395	197896816	51353805	6	2586											
PCNXL2	80003	broad.mit.edu	37	chr1	233394108	233394108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttagactcggagccTgtatcaggtgtaagccggga	9	8	12	12	2	1	1	1	0	0	1	2	3	1	3	4	3	2	2	4	3	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:233394108T>C	ENST00000258229.9	-	5	1734	c.1500A>G	c.(1498-1500)acA>acG	p.T500T	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	500						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCGGAGCCTGTATCAGGTG	0.562																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1498-1500)acA>acG		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							69	71	71					1																	233394108		1997	4168	6165	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394108T>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1500A>G	1.37:g.233394108T>C						PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	p.T500T	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			4	1735	-		all_cancers(173;0.0347)|Prostate(94;0.137)	500					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.1500A>G	CCDS44335.1																																																																																				0.562	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		C	233394108	T	C	233394108	2	2	42	1	0	0	0	0	0	0	0	1	11592	1567	55	4		4	PCNXL2	1	233394108	Silent	SNP	T	TCGA-06-0195-01B-01D-1491-08	35497292	233394108	15856513	7	2587											
GPR75	10936	broad.mit.edu	37	chr2	54080319	54080320	+	In_Frame_Ins	INS	-	-	TGCACTAAG																															ctgaagtgctgtcatattccINStgcactaagtcattagtggt																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:54080319_54080320insTGCACTAAG	ENST00000394705.2	-	2	1844_1845	c.1574_1575insCTTAGTGCA	c.(1573-1575)cag>caCTTAGTGCAg	p.524_525insHLV	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	524					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCATATTCCTGCACTAAGTC	0.411																																						uc021vhn.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1573-1575)cag>caCTTAGTGCAg		Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.																																				SO:0001652	inframe_insertion	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080319_54080320insTGCACTAAG	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1566_1574dupCTTAGTGCA	2.37:g.54080320_54080328dupTGCACTAAG	ENSP00000378195:p.Val524_Gln525insHisLeuVal					GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_In_Frame_Ins_p.524_525insHLV	p.524_525insHLV	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		0	1574_1575	-			524					B2RC02|Q6NWR2	In_Frame_Ins	INS	ENST00000394705.2	37	c.1574_1575insCTTAGTGCA	CCDS1849.1																																																																																				0.411	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			TGCACTAAG	54080320	-	TGCACTAAG	54080319	7	5	42	1	0	1	1	0	0	0	0	0	6708	680	24	0	51	0	GPR75	2	54080319	In_Frame_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		54080319	189119054	8	2588											
CEP68	23177	broad.mit.edu	37	chr2	65309696	65309696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtccttgggaggatcGcaaagcagtctggtgagctg	9	9	16	7	1	1	1	0	1	1	0	3	4	2	4	1	4	2	3	1	4	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:65309696G>A	ENST00000377990.2	+	6	2334	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	CEP68_ENST00000546106.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.A574T	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	711					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGAGGATCGCAAAGCAGTC	0.463																																						uc002sdl.4																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2131-2133)Gca>Aca		Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.							149	137	141					2																	65309696		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65309696G>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2131G>A	2.37:g.65309696G>A	ENSP00000367229:p.Ala711Thr					CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.4_Missense_Mutation_p.A574T|CEP68_uc010yqc.2_Missense_Mutation_p.A711T	p.A711T	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			5	2345	+			711					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.2131G>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440844	0.63067	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.79845	-1.31;-1.31	5.73	3.7	0.42460	.	0.377447	0.23793	N	0.044505	T	0.76104	0.3941	L	0.36672	1.1	0.18873	N	0.999985	D;D	0.55605	0.972;0.972	P;P	0.47626	0.552;0.552	T	0.68591	-0.5368	10	0.46703	T	0.11	-5.1443	12.9178	0.58214	0.0:0.0:0.4544:0.5456	.	711;574	Q76N32;Q76N32-2	CEP68_HUMAN;.	T	711;574	ENSP00000367229:A711T;ENSP00000260569:A574T	ENSP00000260569:A574T	A	+	1	0	CEP68	65163200	0.011000	0.17503	0.024000	0.17045	0.680000	0.39746	1.015000	0.29963	1.276000	0.44395	0.561000	0.74099	GCA		0.463	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		A	65309696	G	A	65309696	3	1	42	1	0	0	0	0	1	0	0	0	3258	1087	38	1	2149	1	CEP68	2	65309696	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	11229377	65309696	177889677	9	2589											
TTN	7273	broad.mit.edu	37	chr2	179589211	179589211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacactccagagtgcacGtttctcctacagtcaccgtc	8	11	6	16	2	2	1	1	0	1	1	5	1	3	1	4	0	3	2	4	0	2	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179589211G>A	ENST00000591111.1	-	70	20164	c.19940C>T	c.(19939-19941)aCg>aTg	p.T6647M	TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T5720M|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T6964M|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12249	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAGTGCACGTTTCTCCTAC	0.478																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17158-17160)aCg>aTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							77	73	75					2																	179589211		1993	4160	6153	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589211G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19940C>T	2.37:g.179589211G>A	ENSP00000465570:p.Thr6647Met					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	p.T5720M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17384	-			6647			Ig-like 38.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17159C>T		.	.	.	.	.	.	.	.	.	.	G	11.61	1.691172	0.30052	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	6.02	4.25	0.50352	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44286	0.1286	M	0.62209	1.925	0.80722	D	1	B	0.23490	0.086	B	0.22386	0.039	T	0.41378	-0.9512	9	0.87932	D	0	.	8.9621	0.35854	0.2746:0.0:0.7254:0.0	.	6647	Q8WZ42	TITIN_HUMAN	M	5720	ENSP00000343764:T5720M	ENSP00000343764:T5720M	T	-	2	0	TTN	179297456	0.992000	0.36948	0.726000	0.30738	0.905000	0.53344	3.330000	0.52068	0.904000	0.36572	-0.136000	0.14681	ACG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179589211	G	A	179589211	3	1	42	1	0	0	0	0	1	0	0	0	16732	1145	40	1	83802	1	TTN	2	179589211	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	114279515	179589211	63610162	10	2590											
TTN	7273	broad.mit.edu	37	chr2	179637967	179637967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaattttatatttagaaCtgggcttgatttccttgtcc	8	19	6	8	0	1	2	1	1	0	1	3	2	3	2	2	1	1	1	2	1	5	9			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179637967C>A	ENST00000591111.1	-	33	7948	c.7724G>T	c.(7723-7725)aGt>aTt	p.S2575I	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2529I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S2575I|TTN_ENST00000460472.2_Missense_Mutation_p.S2529I|TTN_ENST00000360870.5_Missense_Mutation_p.S2575I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S2575I|TTN_ENST00000359218.5_Missense_Mutation_p.S2529I			Q8WZ42	TITIN_HUMAN	titin	12898					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTAGAACTGGGCTTGAT	0.353																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7723-7725)aGt>aTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							42	44	43					2																	179637967		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637967C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7724G>T	2.37:g.179637967C>A	ENSP00000465570:p.Ser2575Ile					TTN_uc021vsz.1_Missense_Mutation_p.S2529I|TTN_uc021vta.1_Missense_Mutation_p.S2529I|TTN_uc021vtb.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	p.S2575I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		32	7949	-			2575					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.7724G>T		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680688	0.14907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.68	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52789	0.1756	M	0.84082	2.675	0.25942	N	0.98285	P;P;P;B;P	0.36909	0.457;0.457;0.457;0.188;0.573	B;B;B;B;B	0.36666	0.17;0.17;0.17;0.17;0.23	T	0.51450	-0.8704	9	0.87932	D	0	.	11.714	0.51641	0.0:0.8092:0.1239:0.0669	.	2529;2529;2529;2575;2575	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	2575;2529;2529;2529;2529;2575	ENSP00000343764:S2575I;ENSP00000434586:S2529I;ENSP00000340554:S2529I;ENSP00000352154:S2529I;ENSP00000354117:S2575I	ENSP00000340554:S2529I	S	-	2	0	TTN	179346212	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	3.361000	0.52306	0.757000	0.33036	0.650000	0.86243	AGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179637967	C	A	179637967	3	1	42	1	0	0	0	0	1	0	0	0	16732	565	20	5	103584	5	TTN	2	179637967	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	48756	179637967	63561406	11	2591											
CCDC141	285025	broad.mit.edu	37	chr2	179701794	179701794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctcgaggaaccatttgCctctgatagcccctgctggt	6	13	9	13	1	3	1	0	1	3	0	4	3	3	2	4	2	4	1	4	2	2	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179701794C>T	ENST00000420890.2	-	23	4269	c.4152G>A	c.(4150-4152)agG>agA	p.R1384R	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.R809R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1384										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAACCATTTGCCTCTGATAGC	0.493																																						uc002une.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4150-4152)agG>agA		Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.							48	51	50					2																	179701794		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179701794C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4152G>A	2.37:g.179701794C>T						CCDC141_uc002unf.1_Silent_p.R863R	p.R1384R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		22	4270	-			809					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.4152G>A																																																																																					0.493	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		T	179701794	C	T	179701794	2	4	42	1	0	0	0	0	0	0	0	1	2775	738	26	3		3	CCDC141	2	179701794	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	63827	179701794	63497579	12	2592											
MPP4	58538	broad.mit.edu	37	chr2	202557686	202557686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcgtacaagagacacactCcattcacatctctgccgtag	12	9	7	13	2	2	1	1	0	1	1	5	3	3	1	2	0	2	2	2	0	3	3	rs188975951	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:202557686C>A	ENST00000409474.3	-	3	353	c.146G>T	c.(145-147)gGa>gTa	p.G49V	MPP4_ENST00000359962.5_Missense_Mutation_p.G49V|MPP4_ENST00000396886.3_Missense_Mutation_p.G49V|MPP4_ENST00000315506.7_Missense_Mutation_p.G49V|MPP4_ENST00000428900.2_Missense_Mutation_p.G49V|MPP4_ENST00000447335.2_Missense_Mutation_p.G49V|MPP4_ENST00000409143.1_Missense_Mutation_p.G49V	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	49	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						GAGACACACTCCATTCACATC	0.547													C|||	3	0.000599042	0	0	5008	,	,		20019	0		0.003	False		,,,				2504	0					uc002uyk.4																			0				kidney(1)|lung(11)	12						c.(145-147)gGa>gTa		Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.							74	76	75					2																	202557686		2020	4191	6211	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202557686C>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.146G>T	2.37:g.202557686C>A	ENSP00000387278:p.Gly49Val					MPP4_uc010ftj.3_Missense_Mutation_p.G49V|MPP4_uc010zhq.2_Missense_Mutation_p.G49V|MPP4_uc010zht.2_Missense_Mutation_p.G49V|MPP4_uc010zhr.2_Missense_Mutation_p.G49V|MPP4_uc010zhs.2_Missense_Mutation_p.G49V|MPP4_uc002uyj.4_Missense_Mutation_p.G49V|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.3_Missense_Mutation_p.G49V	p.G49V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			2	354	-			49			L27 1.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.146G>T	CCDS46491.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	15.96	2.986118	0.53934	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.08984	3.41;3.39;3.41;3.35;3.03;3.38	5.12	5.12	0.69794	L27 (2);	0.166538	0.39985	N	0.001220	T	0.21550	0.0519	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.979;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.00529	-1.1687	10	0.72032	D	0.01	.	19.1273	0.93390	0.0:1.0:0.0:0.0	.	49;49;49;49;49;49;49;62;49;49	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	V	49	ENSP00000387278:G49V;ENSP00000319363:G49V;ENSP00000353047:G49V;ENSP00000416781:G49V;ENSP00000387293:G49V;ENSP00000406160:G49V	ENSP00000319363:G49V	G	-	2	0	MPP4	202265931	1.000000	0.71417	0.156000	0.22583	0.059000	0.15707	6.315000	0.72853	2.837000	0.97791	0.655000	0.94253	GGA		0.547	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			A	202557686	C	A	202557686	3	1	42	1	0	0	0	0	1	0	0	0	9736	855	30	5	1847	5	MPP4	2	202557686	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	22855892	202557686	40641687	13	2593											
DIS3L2	129563	broad.mit.edu	37	chr2	233028324	233028324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccaccagaggagttcaGcaagagaagggatttaaggt	15	8	12	6	0	1	2	1	0	0	2	2	5	2	4	2	3	1	2	2	3	4	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233028324G>T	ENST00000409307.1	+	8	1106	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	DIS3L2_ENST00000273009.6_Missense_Mutation_p.S369I|DIS3L2_ENST00000325385.7_Missense_Mutation_p.S369I					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAGGAGTTCAGCAAGAGAAGG	0.433																																						uc010fxz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1105-1107)aGc>aTc		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.							61	61	61					2																	233028324		1873	4102	5975	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233028324G>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1106G>T	2.37:g.233028324G>T	ENSP00000386799:p.Ser369Ile					DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	p.S369I	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	8	1382	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	369						Missense_Mutation	SNP	ENST00000409307.1	37	c.1106G>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880905	0.51801	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.44482	1.51;0.92;0.92;0.92	5.06	-3.92	0.04155	.	1.026250	0.07686	N	0.937991	T	0.32704	0.0838	L	0.48642	1.525	0.09310	N	0.999999	B	0.14012	0.009	B	0.20184	0.028	T	0.39292	-0.9621	10	0.35671	T	0.21	-3.0448	8.524	0.33293	0.3008:0.4612:0.238:0.0	.	369	Q8IYB7	DI3L2_HUMAN	I	369;369;369;369;369;4	ENSP00000273009:S369I;ENSP00000315569:S369I;ENSP00000386799:S369I;ENSP00000415419:S4I	ENSP00000273009:S369I	S	+	2	0	DIS3L2	232736568	0.000000	0.05858	0.978000	0.43139	0.994000	0.84299	-0.331000	0.07914	-0.372000	0.07992	0.557000	0.71058	AGC		0.433	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		T	233028324	G	T	233028324	3	4	42	1	0	0	0	0	1	0	0	0	4537	971	34	5	1136	5	DIS3L2	2	233028324	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	30470638	233028324	10171049	14	2594											
NEU2	4759	broad.mit.edu	37	chr2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtccctgctggccttcGcggaacagcgggcaagcaag	9	5	14	13	3	0	0	0	0	0	0	2	1	1	1	2	3	5	4	2	3	3	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233897493G>A	ENST00000233840.3	+	1	112	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	38					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GCTGGCCTTCGCGGAACAGCG	0.622																																						uc010zmn.2																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(112-114)Gcg>Acg		Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.							78	66	70					2																	233897493		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233897493G>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.112G>A	2.37:g.233897493G>A	ENSP00000233840:p.Ala38Thr						p.A38T	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	0	112	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	38					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.112G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324521	0.60634	.	.	ENSG00000115488	ENST00000233840	D	0.88201	-2.35	5.39	5.39	0.77823	Neuraminidase (2);	0.584188	0.16139	N	0.227805	D	0.95118	0.8418	M	0.89414	3.03	0.41399	D	0.987661	D	0.89917	1.0	D	0.69479	0.964	D	0.94022	0.7293	10	0.30854	T	0.27	-15.2221	18.1403	0.89637	0.0:0.0:1.0:0.0	.	38	Q9Y3R4	NEUR2_HUMAN	T	38	ENSP00000233840:A38T	ENSP00000233840:A38T	A	+	1	0	NEU2	233605737	0.499000	0.26083	0.041000	0.18516	0.039000	0.13416	2.511000	0.45476	2.496000	0.84212	0.591000	0.81541	GCG		0.622	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		A	233897493	G	A	233897493	3	1	42	1	0	0	0	0	1	0	0	0	10342	1087	38	1	114	1	NEU2	2	233897493	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	869169	233897493	9301880	15	2595											
DGKD	8527	broad.mit.edu	37	chr2	234358633	234358633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctccttgcacagctgtcGatgagcagaatgcccagacc	10	8	9	14	1	1	3	0	1	1	2	3	4	1	3	3	0	4	3	3	0	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:234358633G>A	ENST00000264057.2	+	16	1906	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	DGKD_ENST00000409813.3_Missense_Mutation_p.D588N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	632					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CACAGCTGTCGATGAGCAGAA	0.642																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1894-1896)Gat>Aat		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						53	46	49					2																	234358633		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234358633G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1894G>A	2.37:g.234358633G>A	ENSP00000264057:p.Asp632Asn					DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_Non-coding_Transcript	p.D632N	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	15	1906	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	632					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1894G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019005	0.93462	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.84370	-1.7;-1.84	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	D	0.91660	0.7364	M	0.76727	2.345	0.58432	D	0.999998	D;D;D	0.89917	0.991;1.0;0.999	P;D;P	0.87578	0.735;0.998;0.895	D	0.92284	0.5836	10	0.52906	T	0.07	.	16.6629	0.85245	0.0:0.0:1.0:0.0	.	516;588;632	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	N	632;588	ENSP00000264057:D632N;ENSP00000386455:D588N	ENSP00000264057:D632N	D	+	1	0	DGKD	234023372	1.000000	0.71417	0.807000	0.32361	0.930000	0.56654	9.031000	0.93731	2.245000	0.73994	0.655000	0.94253	GAT		0.642	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		A	234358633	G	A	234358633	3	1	42	1	0	0	0	0	1	0	0	0	4467	1058	37	2	1980	2	DGKD	2	234358633	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	461140	234358633	8840740	16	2596											
TRIM71	131405	broad.mit.edu	37	chr3	32859692	32859692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcgcagacgtccacGtcgtcggggggcggcggcgg	3	6	17	15	8	0	1	0	0	0	1	6	1	3	1	3	6	0	1	3	6	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:32859692G>A	ENST00000383763.5	+	1	183	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	40	Ser-rich.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGTCCACGTCGTcggggg	0.736																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(118-120)acG>acA		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							14	14	14					3																	32859692		1783	3968	5751	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32859692G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.120G>A	3.37:g.32859692G>A							p.T40T	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			0	183	+			40			Ser-rich.			Silent	SNP	ENST00000383763.5	37	c.120G>A	CCDS43060.1																																																																																				0.736	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32859692	G	A	32859692	2	1	42	1	0	0	0	0	0	0	0	1	16541	1132	40	1		1	TRIM71	3	32859692	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		32859692	165162738	17	2597											
SCAP	22937	broad.mit.edu	37	chr3	47460316	47460316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagcgtgactgggatgacgGgcagcaggctgatgtacctg	8	7	18	8	2	0	3	0	3	0	0	0	5	0	5	1	4	3	4	1	4	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:47460316G>A	ENST00000265565.5	-	14	2370	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	SCAP_ENST00000441517.2_Missense_Mutation_p.P398L|SCAP_ENST00000545718.1_Missense_Mutation_p.P261L|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	653					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATGACGGGCAGCAGGCT	0.706																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1957-1959)cCc>cTc		Homo sapiens SREBF chaperone (SCAP), mRNA.							23	22	22					3																	47460316		2201	4298	6499	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460316G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1958C>T	3.37:g.47460316G>A	ENSP00000265565:p.Pro653Leu					SCAP_uc011baz.1_Missense_Mutation_p.P398L|SCAP_uc003crg.2_Missense_Mutation_p.P261L	p.P653L	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2213	-			653					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1958C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551968	0.86127	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.91068	-2.78;-2.77;-0.66	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.95588	0.8652	10	0.87932	D	0	-13.1361	17.3089	0.87204	0.0:0.0:1.0:0.0	.	398;653	F8W921;Q12770	.;SCAP_HUMAN	L	280;653;398;261	ENSP00000265565:P653L;ENSP00000416847:P398L;ENSP00000438956:P261L	ENSP00000265565:P653L	P	-	2	0	SCAP	47435320	1.000000	0.71417	0.992000	0.48379	0.436000	0.31835	6.344000	0.72991	2.417000	0.82017	0.561000	0.74099	CCC		0.706	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		A	47460316	G	A	47460316	3	1	42	1	0	0	0	0	1	0	0	0	13877	1232	43	3	1921	3	SCAP	3	47460316	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	14600624	47460316	150562114	18	2598											
FAM116A	201627	broad.mit.edu	37	chr3	57627463	57627463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggttggttactcctaatAtaactgagggcctataaaaa	15	11	9	6	0	0	1	0	1	0	0	1	1	1	1	2	3	2	2	2	3	9	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:57627463A>G	ENST00000311128.5	-	12	1119	c.1049T>C	c.(1048-1050)aTa>aCa	p.I350T	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	350					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TACTCCTAATATAACTGAGGG	0.328																																						uc003dja.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16						c.(1048-1050)aTa>aCa		Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.							95	96	96					3																	57627463		2203	4300	6503	SO:0001583	missense	201627							g.chr3:57627463A>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1049T>C	3.37:g.57627463A>G	ENSP00000311401:p.Ile350Thr						p.I350T	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	11	1120	-			350					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1049T>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697423	0.68386	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.35	4.16	0.48862	.	0.087328	0.85682	D	0.000000	T	0.73791	0.3632	M	0.84326	2.69	0.80722	D	1	P	0.51653	0.947	P	0.53401	0.725	T	0.77755	-0.2469	9	0.87932	D	0	-19.3227	12.492	0.55905	0.8601:0.1399:0.0:0.0	.	350	Q8IWF6	F116A_HUMAN	T	350	.	ENSP00000311401:I350T	I	-	2	0	FAM116A	57602503	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.746000	0.91604	0.936000	0.37367	0.528000	0.53228	ATA		0.328	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		G	57627463	A	G	57627463	3	3	42	1	0	0	0	0	1	0	0	0	5407	449	16	4	813	4	FAM116A	3	57627463	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	10167147	57627463	140394967	19	2599											
TM4SF18	116441	broad.mit.edu	37	chr3	149051122	149051122	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attatactccaaagtgcaagCggaatcagcaaacaacttag	17	8	7	9	1	1	0	1	0	0	0	2	1	2	1	1	1	6	2	1	1	8	3	rs201013430		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:149051122C>A	ENST00000296059.2	-	2	313	c.48G>T	c.(46-48)ccG>ccT	p.P16P	TM4SF18_ENST00000470080.1_Silent_p.P16P|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	16						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGTGCAAGCGGAATCAGCA	0.443																																						uc021xfl.1																			0				lung(1)|ovary(1)|prostate(1)	3						c.(46-48)ccG>ccT		Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.							68	65	66					3																	149051122		2203	4300	6503	SO:0001819	synonymous_variant	116441					integral to membrane		g.chr3:149051122C>A	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.48G>T	3.37:g.149051122C>A						TM4SF18_uc003exa.3_Silent_p.P16P	p.P16P	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		0	138	-			16					B2R8K0|D3DNH5	Silent	SNP	ENST00000296059.2	37	c.48G>T	CCDS3142.1																																																																																				0.443	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		A	149051122	C	A	149051122	2	1	42	1	0	0	0	0	0	0	0	1	15964	755	27	5		5	TM4SF18	3	149051122	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	91423659	149051122	48971308	20	2600											
AADAC	13	broad.mit.edu	37	chr3	151532029	151532029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacgcctctcccagataacGttgaggagccatggagaatg	12	8	11	10	2	1	3	0	1	1	2	2	5	1	4	3	2	3	1	3	2	3	3	rs530863195		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:151532029G>A	ENST00000232892.7	+	1	205	c.79G>A	c.(79-81)Gtt>Att	p.V27I	AADAC_ENST00000488869.1_Missense_Mutation_p.V27I|RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	27					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCCAGATAACGTTGAGGAGCC	0.408																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(79-81)Gtt>Att		Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.							94	92	93					3																	151532029		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151532029G>A	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.79G>A	3.37:g.151532029G>A	ENSP00000232892:p.Val27Ile					MIR548H2_uc021xgb.1_Intron	p.V27I	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		0	169	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	27					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.79G>A	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425399	0.01126	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.10477	3.78;2.87	5.04	-10.1	0.00402	.	0.674836	0.14860	N	0.294172	T	0.01661	0.0053	N	0.00879	-1.12	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17961	-1.0352	10	0.02654	T	1	-12.0291	7.1144	0.25409	0.4818:0.0:0.2061:0.3122	.	27	P22760	AAAD_HUMAN	I	27	ENSP00000232892:V27I;ENSP00000419620:V27I	ENSP00000232892:V27I	V	+	1	0	AADAC	153014719	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.530000	0.06179	-3.369000	0.00177	-2.095000	0.00367	GTT		0.408	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		A	151532029	G	A	151532029	3	1	42	1	0	0	0	0	1	0	0	0	10	1145	40	1	81	1	AADAC	3	151532029	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	2480907	151532029	46490401	21	2601											
HTR3E	285242	broad.mit.edu	37	chr3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgtaagtaatgaaggtcGcatcaggtataagaaaccca	17	9	9	6	1	1	2	1	1	0	1	2	2	1	2	1	2	1	4	1	2	7	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:183822631G>A	ENST00000415389.2	+	5	912	c.446G>A	c.(445-447)cGc>cAc	p.R149H	HTR3E_ENST00000436361.2_Missense_Mutation_p.R149H|HTR3E_ENST00000335304.2_Missense_Mutation_p.R164H|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.R134H|HTR3E_ENST00000440596.2_Missense_Mutation_p.R175H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	149					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AATGAAGGTCGCATCAGGTAT	0.488																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(523-525)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.							138	120	126					3																	183822631		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822631G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.446G>A	3.37:g.183822631G>A	ENSP00000401444:p.Arg149His					HTR3E_uc010hxq.3_Missense_Mutation_p.R149H|HTR3E_uc003fml.4_Missense_Mutation_p.R134H|HTR3E_uc003fmm.3_Missense_Mutation_p.R164H|HTR3E_uc003fmn.3_Missense_Mutation_p.R149H	p.R175H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	718	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		149					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.524G>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.135454	0.37728	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	3.75	-2.21	0.06973	Neurotransmitter-gated ion-channel ligand-binding (3);	1.899140	0.04305	U	0.348025	T	0.61553	0.2356	N	0.25094	0.71	0.20403	N	0.99991	B;B;B;B;B	0.17038	0.012;0.02;0.016;0.016;0.016	B;B;B;B;B	0.15484	0.013;0.01;0.009;0.009;0.009	T	0.38672	-0.9650	10	0.31617	T	0.26	.	4.3163	0.10995	0.4184:0.0:0.4313:0.1503	.	175;149;149;164;134	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	H	149;134;164;78;149;175	ENSP00000401444:R149H;ENSP00000401900:R134H;ENSP00000335511:R164H;ENSP00000391254:R78H;ENSP00000395833:R149H;ENSP00000406050:R175H	ENSP00000335511:R164H	R	+	2	0	HTR3E	185305325	0.000000	0.05858	0.011000	0.14972	0.985000	0.73830	-1.167000	0.03126	-0.652000	0.05408	-0.189000	0.12847	CGC		0.488	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		A	183822631	G	A	183822631	3	1	42	1	0	0	0	0	1	0	0	0	7448	1087	38	1	505	1	HTR3E	3	183822631	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	32290602	183822631	14199799	22	2602											
ATP13A4	84239	broad.mit.edu	37	chr3	193158372	193158372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgaaattcttccaccaGactggacttctgcccaggag	9	12	8	12	0	3	2	0	1	3	1	4	4	4	4	3	2	1	0	3	2	1	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:193158372G>A	ENST00000342695.4	-	21	2816	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L	ATP13A4_ENST00000392443.3_Silent_p.L813L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	832						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTTCCACCAGACTGGACTTC	0.458																																						uc003ftd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2494-2496)Ctg>Ttg		Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.							93	92	92					3																	193158372		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193158372G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2494C>T	3.37:g.193158372G>A						ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.3_Non-coding_Transcript	p.L832L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	20	2602	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		832					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2494C>T	CCDS3304.2																																																																																				0.458	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		A	193158372	G	A	193158372	2	1	42	1	0	0	0	0	0	0	0	1	1126	933	33	3		3	ATP13A4	3	193158372	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	9335741	193158372	4864058	23	2603											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306576	2306576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctcagccgtctctgcGtcatccgcacccacctccca	7	9	5	20	3	4	0	3	0	2	0	8	0	6	0	5	0	2	1	5	0	0	0	rs146596546		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:2306576G>A	ENST00000290974.2	-	8	1830	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.D467D|ZFYVE28_ENST00000515312.1_Silent_p.D427D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	497					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCGTCTCTGCGTCATCCGCAC	0.672													G|||	1	0.000199681	8e-04	0	5008	,	,		16031	0		0	False		,,,				2504	0					uc003gex.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1489-1491)gaC>gaT		Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.		G	,,	1,4335		0,1,2167	39	39	39		1401,1281,1491	-3.5	0	4	dbSNP_134	39	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	,,	0,2,6408	AA,AG,GG		0.0118,0.0231,0.0156	,,	467/858,427/818,497/888	2306576	2,12818	2168	4242	6410	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306576G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1491C>T	4.37:g.2306576G>A						ZFYVE28_uc011bvk.2_Silent_p.D427D|ZFYVE28_uc011bvl.2_Silent_p.D467D|ZFYVE28_uc003gew.2_Silent_p.D383D	p.D497D	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN			7	1811	-			497					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1491C>T	CCDS33942.1																																																																																				0.672	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		A	2306576	G	A	2306576	2	1	42	1	0	0	0	0	0	0	0	1	17667	1136	40	1		1	ZFYVE28	4	2306576	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		2306576	188847700	24	2604											
SH3TC1	54436	broad.mit.edu	37	chr4	8230213	8230213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcctggaggccgtgcGgctgttctcgaggctgcccc	3	9	13	16	3	1	0	0	0	1	0	3	2	2	1	5	4	3	3	5	4	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:8230213G>A	ENST00000245105.3	+	12	2859	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R855Q	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	931										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGCCGTGCGGCTGTTCTCG	0.701																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2791-2793)cGg>cAg		Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.							24	28	27					4																	8230213		2200	4295	6495	SO:0001583	missense	54436						binding	g.chr4:8230213G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2792G>A	4.37:g.8230213G>A	ENSP00000245105:p.Arg931Gln					SH3TC1_uc003gkw.4_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	p.R931Q	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			11	2893	+			931					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2792G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.895959	0.02472	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.63255	-0.03;-0.03	4.63	-0.0739	0.13733	Tetratricopeptide-like helical (1);	0.678861	0.14890	N	0.292480	T	0.34978	0.0916	N	0.17723	0.515	0.09310	N	1	B	0.19817	0.039	B	0.17433	0.018	T	0.14309	-1.0477	10	0.11485	T	0.65	-14.4757	1.6976	0.02865	0.4943:0.1337:0.2393:0.1327	.	931	Q8TE82	S3TC1_HUMAN	Q	669;931;855;760	ENSP00000245105:R931Q;ENSP00000441045:R855Q	ENSP00000245105:R931Q	R	+	2	0	SH3TC1	8281113	0.974000	0.33945	0.024000	0.17045	0.002000	0.02628	1.358000	0.34102	-0.286000	0.09076	-0.258000	0.10820	CGG		0.701	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		A	8230213	G	A	8230213	3	1	42	1	0	0	0	0	1	0	0	0	14261	1116	39	2	2834	2	SH3TC1	4	8230213	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	5923637	8230213	182924063	25	2605											
RBM47	54502	broad.mit.edu	37	chr4	40440789	40440789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatgctgtagcccgtgCgctccatcagcgccagcagt	7	7	11	16	3	1	0	1	0	0	0	2	0	2	0	4	0	5	5	4	0	1	1	rs371872185		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:40440789C>T	ENST00000381793.2	-	3	518	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RBM47_ENST00000514014.1_Missense_Mutation_p.R3H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R41H|RBM47_ENST00000381795.6_Missense_Mutation_p.R41H|RBM47_ENST00000319592.4_Missense_Mutation_p.R41H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	41					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTAGCCCGTGCGCTCCATCAG	0.731																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(121-123)cGc>cAc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	2,4320		0,2,2159	12	15	14		122,122	4.1	1	4		14	0,8380		0,0,4190	no	missense,missense	RBM47	NM_001098634.1,NM_019027.3	29,29	0,2,6349	TT,TC,CC		0.0,0.0463,0.0157	probably-damaging,probably-damaging	41/594,41/525	40440789	2,12700	2161	4190	6351	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440789C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.122G>A	4.37:g.40440789C>T	ENSP00000371212:p.Arg41His					RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	p.R41H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	832	-			41					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.122G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808996	0.70797	4.63E-4	0.0	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180;ENST00000511598;ENST00000511902;ENST00000505220	T;T;T;T;T;T;T;T;T;T;T	0.68331	2.26;2.06;2.26;2.06;1.67;1.75;1.7;1.72;1.71;0.3;-0.32	5.78	4.05	0.47172	.	0.093652	0.85682	D	0.000000	T	0.82162	0.4977	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.909;0.962	D	0.85531	0.1209	10	0.87932	D	0	-9.9291	12.8461	0.57831	0.0:0.8658:0.0:0.1342	.	41;41	A0AV96-2;A0AV96	.;RBM47_HUMAN	H	41;41;41;41;3;41;41;41;41;41;41;41;41	ENSP00000320108:R41H;ENSP00000371212:R41H;ENSP00000371214:R41H;ENSP00000295971:R41H;ENSP00000423243:R3H;ENSP00000422564:R41H;ENSP00000421589:R41H;ENSP00000423527:R41H;ENSP00000426542:R41H;ENSP00000423398:R41H;ENSP00000424019:R41H	ENSP00000295971:R41H	R	-	2	0	RBM47	40135546	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.054000	0.71096	1.465000	0.48006	0.313000	0.20887	CGC		0.731	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440789	C	T	40440789	3	4	42	1	0	0	0	0	1	0	0	0	13141	768	27	1	1675	1	RBM47	4	40440789	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	32210576	40440789	150713487	26	2606											
CSN3	1448	broad.mit.edu	37	chr4	71115169	71115169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgcagttactccacctaCggcataaaaacaccaaggaa	16	7	7	11	1	0	0	0	0	0	0	1	1	1	1	3	2	4	4	3	2	7	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:71115169C>T	ENST00000304954.3	+	4	628	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.T181M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACTCCACCTACGGCATAAAAA	0.413																																						uc003hfe.4																			1	Substitution - Missense(1)	p.T181M(2)	endometrium(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(541-543)aCg>aTg		Homo sapiens casein kappa (CSN3), mRNA.							48	48	48					4																	71115169		2203	4299	6502	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71115169C>T	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.542C>T	4.37:g.71115169C>T	ENSP00000304822:p.Thr181Met						p.T181M	NM_005212	NP_005203	P07498	CASK_HUMAN			3	600	+			181	TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).				B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.542C>T	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	5.454	0.268878	0.10349	.	.	ENSG00000171209	ENST00000304954	T	0.23147	1.92	4.32	-7.81	0.01210	.	3.687830	0.00397	N	0.000054	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.31026	0.304	B	0.23150	0.044	T	0.20974	-1.0259	10	0.72032	D	0.01	-5.124	9.2493	0.37545	0.1071:0.159:0.0:0.7339	.	181	P07498	CASK_HUMAN	M	181	ENSP00000304822:T181M	ENSP00000304822:T181M	T	+	2	0	CSN3	71149758	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.981000	0.00320	-1.990000	0.00978	-0.469000	0.05056	ACG		0.413	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		T	71115169	C	T	71115169	3	4	42	1	0	0	0	0	1	0	0	0	3949	536	19	1	552	1	CSN3	4	71115169	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	30674380	71115169	120039107	27	2607											
MORF4	10934	broad.mit.edu	37	chr4	174537295	174537295	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggcactccatacacctggGacatgggtgcatcgggacaa	10	7	13	11	1	0	0	0	0	0	0	2	2	1	2	2	4	2	2	2	4	2	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:174537295G>T								RP11-475B2.1 (21588 upstream) : RP11-161D15.2 (280249 downstream)																							ATACACCTGGGACATGGGTGC	0.443																																																									0																				160	162	162					4																	174537295		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537295G>T																													4.37:g.174537295G>T						NBLA00301 (30416 upstream) : AK125257 (478516 downstream)																			Missense_Mutation	SNP		37																																																																																					0	0.443									T	174537295	G	T	174537295	1	4	42	0	1	0	0	0	0	0	0	0	9705	1174	41	5		5	MORF4	4	174537295	IGR	SNP	G	TCGA-06-0195-01B-01D-1491-08	103422126	174537295	16616981	28	2608											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232628	5232628	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctctgcaccaaccccAagtaagtatgccttgacctc	9	9	7	16	1	1	1	0	1	1	0	3	1	1	1	6	0	3	3	6	0	4	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:5232628A>G	ENST00000274181.7	+	12	1987	c.1849A>G	c.(1849-1851)Aag>Gag	p.K617E		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	617	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACCAACCCCAAGTAAGTATG	0.527																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.e12+1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							94	104	101					5																	5232628		2168	4277	6445	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5232628A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1850+1A>G	5.37:g.5232628A>G						ADAMTS16_uc003jdk.1_Splice_Site_p.K617_splice|ADAMTS16_uc010itk.1_5'Flank	p.K617_splice	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			12	1988	+			617			TSP type-1 1.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1850_splice	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543550	0.27563	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.60299	0.2	5.18	2.66	0.31614	.	0.244133	0.38111	N	0.001804	T	0.37517	0.1006	N	0.17872	0.535	0.28258	N	0.924973	B;B	0.31730	0.285;0.337	B;B	0.35727	0.138;0.209	T	0.35301	-0.9794	10	0.02654	T	1	.	11.2828	0.49206	0.5447:0.4553:0.0:0.0	.	617;617	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	617	ENSP00000274181:K617E	ENSP00000274181:K617E	K	+	1	0	ADAMTS16	5285628	1.000000	0.71417	0.981000	0.43875	0.048000	0.14542	3.080000	0.50112	0.261000	0.21753	0.402000	0.26972	AAG		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	Missense_Mutation	G	5232628	A	G	5232628	5	3	42	1	0	0	0	0	0	0	1	0	261	144	5	4	1895	4	ADAMTS16	5	5232628	Splice_Site	SNP	A	TCGA-06-0195-01B-01D-1491-08		5232628	175682632	29	2609											
TRPC7	57113	broad.mit.edu	37	chr5	135587388	135587388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagacattgtgcagcgtgtCgtcctgcacgtgctggtcca	6	10	13	12	4	0	1	0	0	0	1	3	2	2	1	2	1	4	3	2	1	0	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:135587388C>T	ENST00000513104.1	-	6	1810	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	TRPC7_ENST00000355180.3_Missense_Mutation_p.D449N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D394N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	510					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGCGTGTCGTCCTGCACG	0.602																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1528-1530)Gac>Aac		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							55	58	57					5																	135587388		2157	4259	6416	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135587388C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1528G>A	5.37:g.135587388C>T	ENSP00000426070:p.Asp510Asn					TRPC7_uc010jef.2_Missense_Mutation_p.D446N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.D61N|TRPC7_uc010jeh.2_Missense_Mutation_p.D449N|TRPC7_uc010jei.2_Missense_Mutation_p.D394N	p.D510N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1750	-			510					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1528G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.272|6.272	0.418285|0.418285	0.11870|0.11870	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.77620|.	-0.96;-1.11;-1.05|.	5.21|5.21	4.35|4.35	0.52113|0.52113	Ion transport (1);|.	0.515523|.	0.21943|.	N|.	0.066844|.	T|T	0.09818|0.09818	0.0241|0.0241	N|N	0.01048|0.01048	-1.04|-1.04	0.21064|0.21064	N|N	0.999799|0.999799	B;B;B;B|.	0.15141|.	0.012;0.0;0.001;0.0|.	B;B;B;B|.	0.14023|.	0.01;0.001;0.003;0.003|.	T|T	0.19484|0.19484	-1.0304|-1.0304	10|5	0.14252|.	T|.	0.57|.	-6.0648|-6.0648	10.3658|10.3658	0.44024|0.44024	0.0:0.852:0.0:0.148|0.0:0.852:0.0:0.148	.|.	394;449;455;510|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	N|Q	449;394;510;510|393;448;454	ENSP00000347312:D449N;ENSP00000441628:D394N;ENSP00000426070:D510N|.	ENSP00000265193:D510N|.	D|R	-|-	1|2	0|0	TRPC7|TRPC7	135615287|135615287	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.043000|0.043000	0.13939|0.13939	0.158000|0.158000	0.16422|0.16422	1.454000|1.454000	0.47793|0.47793	-0.127000|-0.127000	0.14921|0.14921	GAC|CGA		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135587388	C	T	135587388	3	4	42	1	0	0	0	0	1	0	0	0	16581	884	31	2	1088	2	TRPC7	5	135587388	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	130354760	135587388	45327872	30	2610											
KIAA0141	9812	broad.mit.edu	37	chr5	141316857	141316857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagatgttaccagcagtCagccgctctgggaaatgagg	10	9	13	9	1	2	2	1	2	1	1	2	4	2	3	2	2	3	3	2	2	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:141316857C>T	ENST00000432126.2	+	11	1378	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	KIAA0141_ENST00000194118.4_Missense_Mutation_p.S415L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	415					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCAGTCAGCCGCTCTG	0.562																																						uc003lls.3																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(1243-1245)tCa>tTa		Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							110	112	111					5																	141316857		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141316857C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1244C>T	5.37:g.141316857C>T	ENSP00000396225:p.Ser415Leu					KIAA0141_uc003llt.3_Missense_Mutation_p.S415L	p.S415L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1366	+		all_hematologic(541;0.118)	415					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.1244C>T	CCDS4268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.74|16.74	3.206953|3.206953	0.58343|0.58343	.|.	.|.	ENSG00000081791|ENSG00000081791	ENST00000507481|ENST00000432126;ENST00000194118	.|T;T	.|0.52295	.|0.67;0.67	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Tetratricopeptide-like helical (1);	.|0.360587	.|0.25994	.|N	.|0.026985	.|T	.|0.60919	.|0.2306	M|M	0.67953|0.67953	2.075|2.075	0.28558|0.28558	N|N	0.911293|0.911293	.|D	.|0.63880	.|0.993	.|P	.|0.55055	.|0.767	.|T	.|0.61797	.|-0.6989	.|10	.|0.87932	.|D	.|0	-1.7669|-1.7669	15.1108|15.1108	0.72355|0.72355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415	.|Q14154	.|DELE_HUMAN	X|L	117|415	.|ENSP00000396225:S415L;ENSP00000194118:S415L	.|ENSP00000194118:S415L	Q|S	+|+	1|2	0|0	KIAA0141|KIAA0141	141297041|141297041	0.962000|0.962000	0.33011|0.33011	0.971000|0.971000	0.41717|0.41717	0.093000|0.093000	0.18481|0.18481	5.520000|5.520000	0.67080|0.67080	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.562	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		T	141316857	C	T	141316857	3	4	42	1	0	0	0	0	1	0	0	0	8156	838	29	3	1286	3	KIAA0141	5	141316857	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	5729469	141316857	39598403	31	2611											
SOX30	11063	broad.mit.edu	37	chr5	157078323	157078323	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatcctaaggtcttgcTggtgcggcccaaaggcaccg	9	7	14	11	2	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:157078323T>G	ENST00000265007.6	-	1	1105	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	SOX30_ENST00000311371.5_Missense_Mutation_p.Q255P|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	255					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCTTGCTGGTGCGGCCC	0.642																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(763-765)cAg>cCg		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							44	47	46					5																	157078323		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078323T>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.764A>C	5.37:g.157078323T>G	ENSP00000265007:p.Gln255Pro					SOX30_uc003lxc.1_Missense_Mutation_p.Q255P|SOX30_uc011dds.1_Intron	p.Q255P	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	1106	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	255					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.764A>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463743	0.26335	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97959	-4.63;-4.25	5.18	4.08	0.47627	.	0.252179	0.27627	N	0.018540	D	0.92463	0.7607	N	0.17082	0.46	0.58432	D	0.999992	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	D	0.88382	0.3002	10	0.18710	T	0.47	.	9.1974	0.37237	0.0:0.0:0.3401:0.6599	.	255;255	O94993-2;O94993	.;SOX30_HUMAN	P	255	ENSP00000309343:Q255P;ENSP00000265007:Q255P	ENSP00000265007:Q255P	Q	-	2	0	SOX30	157010901	0.992000	0.36948	0.998000	0.56505	0.539000	0.34962	1.779000	0.38624	1.960000	0.56953	0.377000	0.23210	CAG		0.642	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		G	157078323	T	G	157078323	3	3	42	1	0	0	0	0	1	0	0	0	14952	1580	55	5	1517	5	SOX30	5	157078323	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	15761466	157078323	23836937	32	2612											
DNAH8	1769	broad.mit.edu	37	chr6	38709656	38709656	+	Frame_Shift_Del	DEL	T	T	-																															aaatgttgcacactccaaacTgctaaaggtaaaaggctttt																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:38709656delT	ENST00000359357.3	+	6	889	c.635delT	c.(634-636)ctgfs	p.L213fs	RN7SL465P_ENST00000468411.2_RNA|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.L213fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L430fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	213					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTCCAAACTGCTAAAGGTA	0.343																																						uc021yzh.1																			0		p.D428N(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1285-1287)ctgfs		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							96	89	92					6																	38709656		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38709656delT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.635delT	6.37:g.38709656delT	ENSP00000352312:p.Leu213fs					DNAH8_uc003ooe.2_Frame_Shift_Del_p.L212fs	p.L429fs	NM_001206927	NP_001193856					7	1395	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.1286delT																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		-	38709656	T	-	38709656	7	5	42	1	0	1	0	1	0	0	0	0	4607	1580	55	0	649	0	DNAH8	6	38709656	Frame_Shift_Del	DEL	T	TCGA-06-0195-01B-01D-1491-08		38709656	132405411	33	2613											
FILIP1	27145	broad.mit.edu	37	chr6	76023600	76023600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttcatcaaatccccttCgaccacttccaattgttgga	9	14	5	13	1	3	0	2	0	1	0	6	2	5	1	4	1	0	1	4	1	2	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:76023600C>T	ENST00000237172.7	-	5	2278	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	FILIP1_ENST00000393004.2_Missense_Mutation_p.E650K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E551K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	650										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATCCCCTTCGACCACTTCC	0.418																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1957-1959)Gaa>Aaa		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							256	261	259					6																	76023600		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023600C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1948G>A	6.37:g.76023600C>T	ENSP00000237172:p.Glu650Lys					FILIP1_uc003phy.1_Missense_Mutation_p.E650K|FILIP1_uc003phz.3_Missense_Mutation_p.E551K|FILIP1_uc003pia.3_Missense_Mutation_p.E650K|FILIP1_uc003pib.1_Missense_Mutation_p.E402K	p.E653K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2487	-			650					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1957G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105335	0.77096	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.36157	1.28;1.27;1.28	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.57271	-0.7840	10	0.44086	T	0.13	-25.9601	19.7897	0.96452	0.0:1.0:0.0:0.0	.	650;650;650	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	650;650;551	ENSP00000376728:E650K;ENSP00000237172:E650K;ENSP00000359037:E551K	ENSP00000237172:E650K	E	-	1	0	FILIP1	76080320	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	GAA		0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		T	76023600	C	T	76023600	3	4	42	1	0	0	0	0	1	0	0	0	5894	893	31	2	1701	2	FILIP1	6	76023600	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	37313944	76023600	95091467	34	2614											
HTR1B	3351	broad.mit.edu	37	chr6	78172165	78172165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacaataaaggctcccaaaAtgatccctagggtcttggtg	13	9	9	10	0	1	1	0	1	1	0	3	1	3	1	2	3	0	1	2	3	6	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:78172165A>C	ENST00000369947.2	-	1	1325	c.956T>G	c.(955-957)aTt>aGt	p.I319S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	319					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGCTCCCAAAATGATCCCTAG	0.507																																						uc003pil.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(955-957)aTt>aGt		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						164	161	162					6																	78172165		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172165A>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.956T>G	6.37:g.78172165A>C	ENSP00000358963:p.Ile319Ser						p.I319S	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	0	956	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	319					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.956T>G	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931516	0.52866	.	.	ENSG00000135312	ENST00000369947	T	0.43294	0.95	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84040	0.0364	9	.	.	.	.	14.5976	0.68417	1.0:0.0:0.0:0.0	.	319	P28222	5HT1B_HUMAN	S	319	ENSP00000358963:I319S	.	I	-	2	0	HTR1B	78228884	1.000000	0.71417	0.984000	0.44739	0.439000	0.31926	8.995000	0.93534	2.233000	0.73108	0.459000	0.35465	ATT		0.507	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		C	78172165	A	C	78172165	3	2	42	1	0	0	0	0	1	0	0	0	7437	101	4	5	220	5	HTR1B	6	78172165	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	2148565	78172165	92942902	35	2615											
HDAC2	3066	broad.mit.edu	37	chr6	114266601	114266601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgcagtttgaagtctggtCcaaaatactcaaagtaatca	15	12	7	7	0	3	1	2	1	1	0	4	1	4	1	1	1	2	3	1	1	7	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:114266601C>T	ENST00000519065.1	-	10	1392	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	HDAC2_ENST00000519108.1_Missense_Mutation_p.G309E|HDAC2_ENST00000368632.2_Missense_Mutation_p.G309E|HDAC2_ENST00000398283.2_Missense_Mutation_p.G433E			Q92769	HDAC2_HUMAN	histone deacetylase 2	339					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GAAGTCTGGTCCAAAATACTC	0.299																																						uc003pwd.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1015-1017)gGa>gAa		Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	Vorinostat(DB02546)						161	153	155					6																	114266601		1814	4074	5888	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114266601C>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1016G>A	6.37:g.114266601C>T	ENSP00000430432:p.Gly339Glu					HDAC2_uc003pwc.2_Missense_Mutation_p.G309E|HDAC2_uc003pwe.2_Missense_Mutation_p.G309E	p.G339E	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	9	1303	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	339					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1016G>A	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981718	0.74474	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.84	5.84	0.93424	Histone deacetylase domain (1);	0.077332	0.53938	D	0.000049	D	0.94981	0.8376	M	0.90082	3.085	0.58432	D	0.999997	P;D	0.53312	0.663;0.959	P;P	0.54140	0.479;0.743	D	0.95013	0.8153	10	0.87932	D	0	-12.3195	20.563	0.99327	0.0:1.0:0.0:0.0	.	309;339	B3KRS5;Q92769	.;HDAC2_HUMAN	E	339;433;309;309	ENSP00000430432:G339E;ENSP00000381331:G433E;ENSP00000430008:G309E;ENSP00000357621:G309E	ENSP00000357621:G309E	G	-	2	0	HDAC2	114373294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.937000	0.99478	0.650000	0.86243	GGA		0.299	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			T	114266601	C	T	114266601	3	4	42	1	0	0	0	0	1	0	0	0	7007	855	30	3	470	3	HDAC2	6	114266601	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	36094436	114266601	56848466	36	2616											
SYNE1	23345	broad.mit.edu	37	chr6	152644693	152644693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttggggcggctccatcctgGagcatgctcagggtttgctg	4	11	16	10	1	1	0	1	0	0	0	3	1	3	1	2	5	3	6	2	5	0	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:152644693G>A	ENST00000367255.5	-	82	16438	c.15837C>T	c.(15835-15837)ctC>ctT	p.L5279L	SYNE1_ENST00000448038.1_Silent_p.L5208L|SYNE1_ENST00000265368.4_Silent_p.L5279L|SYNE1_ENST00000423061.1_Silent_p.L5208L|SYNE1_ENST00000341594.5_Silent_p.L4972L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5279					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCATCCTGGAGCATGCTCA	0.567										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15835-15837)ctC>ctT		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							71	71	71					6																	152644693		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152644693G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15837C>T	6.37:g.152644693G>A		HNSCC(10;0.0054)				SYNE1_uc003qot.4_Silent_p.L5208L|SYNE1_uc003qou.4_Silent_p.L5279L|SYNE1_uc010kiz.3_Silent_p.L1034L	p.L5279L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	16060	-		Ovarian(120;0.0955)	5279					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15837C>T	CCDS5236.2																																																																																				0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152644693	G	A	152644693	2	1	42	1	0	0	0	0	0	0	0	1	15442	1161	41	3		3	SYNE1	6	152644693	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	38378092	152644693	18470374	37	2617											
TIAM2	26230	broad.mit.edu	37	chr6	155571053	155571053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagatctatgaggattatGggaccgtgtttgaccagcta	12	11	12	6	1	1	4	0	2	1	2	1	6	1	6	2	2	1	2	2	2	4	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:155571053G>A	ENST00000461783.3	+	23	5174	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R	TIAM2_ENST00000528391.2_Missense_Mutation_p.G637R|TIAM2_ENST00000367174.2_Missense_Mutation_p.G677R|TIAM2_ENST00000456877.2_Missense_Mutation_p.G613R|TIAM2_ENST00000318981.5_Missense_Mutation_p.G1301R|TIAM2_ENST00000360366.4_Missense_Mutation_p.G1325R|TIAM2_ENST00000529824.2_Missense_Mutation_p.G1301R|TIAM2_ENST00000456144.1_Missense_Mutation_p.G1301R|TIAM2_ENST00000275246.7_Missense_Mutation_p.G226R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1301					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGGATTATGGGACCGTGTT	0.473																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3901-3903)Ggg>Agg		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							135	115	121					6																	155571053		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155571053G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3901G>A	6.37:g.155571053G>A	ENSP00000437188:p.Gly1301Arg					TIAM2_uc003qqe.3_Missense_Mutation_p.G1301R|TIAM2_uc010kjj.3_Missense_Mutation_p.G834R|TIAM2_uc003qqf.3_Missense_Mutation_p.G677R|TIAM2_uc011efl.1_Missense_Mutation_p.G637R|TIAM2_uc003qqg.3_Missense_Mutation_p.G613R|TIAM2_uc003qqh.3_Missense_Mutation_p.G226R	p.G1301R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5174	+		Ovarian(120;0.196)	1301					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3901G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106803	0.94292	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.5	5.5	0.81552	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80023	-0.1556	10	0.72032	D	0.01	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	637;1301;1325;1301	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	1301;1547;1301;1301;1301;677;1325;1301;613;637;226	ENSP00000437188:G1301R;ENSP00000434901:G1301R;ENSP00000407746:G1301R;ENSP00000327315:G1301R;ENSP00000356142:G677R;ENSP00000353528:G1325R;ENSP00000433348:G1301R;ENSP00000407183:G613R;ENSP00000435335:G637R;ENSP00000275246:G226R	ENSP00000275246:G226R	G	+	1	0	TIAM2	155612745	1.000000	0.71417	0.834000	0.33040	0.651000	0.38670	9.808000	0.99193	2.594000	0.87642	0.563000	0.77884	GGG		0.473	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155571053	G	A	155571053	3	1	42	1	0	0	0	0	1	0	0	0	15888	1348	47	3	3971	3	TIAM2	6	155571053	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	2926360	155571053	15544014	38	2618											
AMZ1	155185	broad.mit.edu	37	chr7	2740173	2740174	+	Frame_Shift_Ins	INS	-	-	A																															cactgacgcagccctgcagcINSagctgtatgtgtccgccttc																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:2740173_2740174insA	ENST00000312371.4	+	2	456_457	c.88_89insA	c.(88-90)cagfs	p.Q30fs	AMZ1_ENST00000407112.1_Frame_Shift_Ins_p.Q30fs	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	30							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCCTGCAGCAGCTGTATGTG	0.668																																						uc003smr.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(88-90)cagfs		Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.																																				SO:0001589	frameshift_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740173_2740174insA	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.89dupA	7.37:g.2740174_2740174dupA	ENSP00000308149:p.Gln30fs					AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank	p.Q30fs	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	1	449_450	+		Ovarian(82;0.0779)	30					B3KRS0|Q8TF51	Frame_Shift_Ins	INS	ENST00000312371.4	37	c.88_89insA	CCDS34589.1																																																																																				0.668	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		A	2740174	-	A	2740173	7	5	42	1	0	1	1	0	0	0	0	0	596	711	25	0	90	0	AMZ1	7	2740173	Frame_Shift_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		2740173	156398490	39	2619											
ABCB4	5244	broad.mit.edu	37	chr7	87060779	87060779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagttcgctgtggcttcCttgctccacaattactccat	7	14	6	14	1	1	0	1	0	0	0	5	0	4	0	3	1	2	4	3	1	2	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87060779C>T	ENST00000265723.4	-	15	1945	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R	ABCB4_ENST00000359206.3_Missense_Mutation_p.G612R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G612R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G612R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G612R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	612	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTGTGGCTTCCTTGCTCCACA	0.478																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1834-1836)Gga>Aga		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							211	180	191					7																	87060779		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060779C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1834G>A	7.37:g.87060779C>T	ENSP00000265723:p.Gly612Arg					ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	p.G612R	NM_018849	NP_061337	P21439	MDR3_HUMAN			14	1910	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		612			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1834G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107811	0.94292	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.049524	0.85682	D	0.000000	D	0.96543	0.8872	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.97106	0.9801	10	0.87932	D	0	-7.4431	19.365	0.94458	0.0:1.0:0.0:0.0	.	612;612;612	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	612	ENSP00000352135:G612R;ENSP00000351172:G612R;ENSP00000265723:G612R;ENSP00000392983:G612R;ENSP00000437465:G612R	ENSP00000265723:G612R	G	-	1	0	ABCB4	86898715	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.766000	0.85320	2.580000	0.87095	0.591000	0.81541	GGA		0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87060779	C	T	87060779	3	4	42	1	0	0	0	0	1	0	0	0	43	690	24	3	2082	3	ABCB4	7	87060779	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	84320606	87060779	72077884	40	2620											
DBF4	10926	broad.mit.edu	37	chr7	87525787	87525787	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcactatatatttttttttAgggcaaaagagttggtagtg	11	18	9	3	0	1	1	1	0	0	1	1	1	1	1	0	2	0	3	0	2	7	11			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87525787A>T	ENST00000265728.1	+	7	1101		c.e7-1			NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger						DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTTTTTTTTAGGGCAAAAGA	0.299																																						uc003ujf.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.e7-2		Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.							59	61	60					7																	87525787		2203	4300	6503	SO:0001630	splice_region_variant	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87525787A>T	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.598-1A>T	7.37:g.87525787A>T						DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	p.G200_splice	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			7	1102	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	200					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Splice_Site	SNP	ENST00000265728.1	37	c.598_splice	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500952	0.26861	.	.	ENSG00000006634	ENST00000265728	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4922	0.55907	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DBF4	87363723	0.996000	0.38824	0.927000	0.36925	0.254000	0.26022	4.263000	0.58853	2.220000	0.72140	0.482000	0.46254	.		0.299	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	Intron	T	87525787	A	T	87525787	5	4	42	1	0	0	0	0	0	0	1	0	4248	434	15	5	622	5	DBF4	7	87525787	Splice_Site	SNP	A	TCGA-06-0195-01B-01D-1491-08	465008	87525787	71612876	41	2621											
NPTX2	4885	broad.mit.edu	37	chr7	98256538	98256538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatctgtgtcacctggaCgacacgggatggcatgtggg	8	8	14	11	2	2	0	1	0	1	0	2	3	2	2	2	4	0	1	2	4	0	0	rs377548219		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:98256538C>T	ENST00000265634.3	+	4	1115	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	317	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCACCTGGACGACACGGGAT	0.642																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(949-951)aCg>aTg		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		C	MET/THR	0,4406		0,0,2203	96	79	85		950	4.5	0.9	7		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPTX2	NM_002523.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/432	98256538	1,13005	2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256538C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.950C>T	7.37:g.98256538C>T	ENSP00000265634:p.Thr317Met						p.T317M	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1127	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		317			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.950C>T	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568923	0.86439	0.0	1.16E-4	ENSG00000106236	ENST00000265634	T	0.59638	0.25	5.39	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.043600	0.85682	N	0.000000	T	0.79981	0.4540	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84388	0.0553	10	0.72032	D	0.01	-18.4801	13.2357	0.59969	0.0:0.9235:0.0:0.0765	.	317	P47972	NPTX2_HUMAN	M	317	ENSP00000265634:T317M	ENSP00000265634:T317M	T	+	2	0	NPTX2	98094474	1.000000	0.71417	0.890000	0.34922	0.936000	0.57629	6.047000	0.71038	1.398000	0.46701	0.655000	0.94253	ACG		0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98256538	C	T	98256538	3	4	42	1	0	0	0	0	1	0	0	0	10603	536	19	1	964	1	NPTX2	7	98256538	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	10730751	98256538	60882125	42	2622											
FBXO24	26261	broad.mit.edu	37	chr7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcgcagactcagtccgCgcctccaagatcagggttct	7	10	10	14	3	4	2	2	0	2	2	7	2	6	2	3	1	0	2	3	1	1	1	rs563719782		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:100187923C>T	ENST00000241071.6	+	3	587	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C|FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	89					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		17432	0		0	False		,,,				2504	0					uc011kjz.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(379-381)Cgc>Tgc		Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.							68	57	61					7																	100187923		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187923C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.265C>T	7.37:g.100187923C>T	ENSP00000241071:p.Arg89Cys					FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvm.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	p.R127C	NM_012172	NP_036304	O75426	FBX24_HUMAN			2	447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		89					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.379C>T	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528809	0.64860	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	4.69	3.76	0.43208	F-box domain, Skp2-like (1);	0.096272	0.39615	N	0.001301	T	0.44244	0.1284	N	0.08118	0	0.49051	D	0.999745	D;D;D;D	0.76494	0.996;0.995;0.995;0.999	P;P;P;P	0.56916	0.65;0.549;0.549;0.809	T	0.50841	-0.8780	10	0.87932	D	0	-14.348	10.184	0.42986	0.1974:0.8026:0.0:0.0	.	77;127;89;89	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	C	112;89;89;89;94;77;127	ENSP00000419587:R112C;ENSP00000241071:R89C;ENSP00000353821:R89C;ENSP00000419602:R89C;ENSP00000417179:R94C;ENSP00000420239:R77C;ENSP00000416558:R127C	ENSP00000241071:R89C	R	+	1	0	FBXO24	100025859	0.053000	0.20554	0.830000	0.32933	0.721000	0.41392	0.954000	0.29175	2.439000	0.82584	0.555000	0.69702	CGC		0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			T	100187923	C	T	100187923	3	4	42	1	0	0	0	0	1	0	0	0	5735	768	27	1	432	1	FBXO24	7	100187923	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1931385	100187923	58950740	43	2623											
DLD	1738	broad.mit.edu	37	chr7	107545876	107545876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctacgaaagctgatggcgGcactcaggttattgatacaa	12	10	11	8	2	1	2	1	2	0	0	1	3	1	2	0	3	4	4	0	3	5	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:107545876G>A	ENST00000205402.5	+	7	790	c.509G>A	c.(508-510)gGc>gAc	p.G170D	DLD_ENST00000537148.1_Missense_Mutation_p.G71D|DLD_ENST00000440410.1_Missense_Mutation_p.G147D|DLD_ENST00000437604.2_Intron	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	170					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GCTGATGGCGGCACTCAGGTT	0.358																																						uc003vet.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(508-510)gGc>gAc		Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	NADH(DB00157)						112	108	110					7																	107545876		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107545876G>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.509G>A	7.37:g.107545876G>A	ENSP00000205402:p.Gly170Asp					DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.G147D|DLD_uc011kmi.2_Missense_Mutation_p.G71D	p.G170D	NM_000108	NP_000099	P09622	DLDH_HUMAN			6	619	+			170					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.509G>A	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151661	0.57151	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000539590	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.88	5.01	0.66863	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.075781	0.85682	D	0.000000	T	0.40791	0.1131	L	0.46614	1.455	0.44268	D	0.997129	B;B	0.23316	0.083;0.012	B;B	0.27170	0.077;0.022	T	0.29397	-1.0013	10	0.56958	D	0.05	-11.9932	15.002	0.71479	0.0681:0.0:0.9319:0.0	.	147;170	E9PEX6;P09622	.;DLDH_HUMAN	D	170;170;71;147;120	ENSP00000205402:G170D;ENSP00000390667:G170D;ENSP00000442399:G71D;ENSP00000417016:G147D	ENSP00000205402:G170D	G	+	2	0	DLD	107333112	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.625000	0.74248	1.504000	0.48704	-0.229000	0.12294	GGC		0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		A	107545876	G	A	107545876	3	1	42	1	0	0	0	0	1	0	0	0	4551	1203	42	3	535	3	DLD	7	107545876	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	7357953	107545876	51592787	44	2624											
SSPO	23145	broad.mit.edu	37	chr7	149508065	149508065	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcacctctaccccccGggcagcactgtggttcgtcc	5	7	13	16	2	1	0	0	0	1	0	3	1	2	0	5	4	2	4	5	4	1	2	rs542098578		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149508065G>C	ENST00000378016.2	+	0	9459							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTACCCCCCGGGCAGCACTG	0.602																																						uc010lpk.3																			0											c.(9448-9450)ccG>ccC		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							46	53	50					7																	149508065		1965	4136	6101			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508065G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508065G>C							p.P3150P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		65	9450	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3153					Q76B61	Silent	SNP	ENST00000378016.2	37	c.9450G>C																																																																																					0.602	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149508065	G	C	149508065	1	2	42	0	1	0	0	0	0	0	0	0	15188	1103	39	5		5	SSPO	7	149508065	RNA	SNP	G	TCGA-06-0195-01B-01D-1491-08	41962189	149508065	9630598	45	2625											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476765	110476765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggtcaccaacccgaaCaataccatacgacacaatgc	14	8	6	13	2	1	0	1	0	0	0	1	2	1	0	3	1	5	0	3	1	6	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr8:110476765C>A	ENST00000378402.5	+	49	7808	c.7704C>A	c.(7702-7704)aaC>aaA	p.N2568K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2568					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAACCCGAACAATACCATAC	0.468										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7702-7704)aaC>aaA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							103	103	103					8																	110476765		2037	4194	6231	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476765C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7704C>A	8.37:g.110476765C>A	ENSP00000367655:p.Asn2568Lys	HNSCC(38;0.096)					p.N2568K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		48	7808	+			2568					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7704C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403738	0.42613	.	.	ENSG00000205038	ENST00000378402	D	0.83673	-1.75	5.55	3.42	0.39159	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.85710	2.77	0.31172	N	0.703057	P	0.51351	0.944	P	0.58331	0.837	D	0.87045	0.2143	10	0.56958	D	0.05	.	7.6661	0.28432	0.0:0.7206:0.0:0.2794	.	2568	Q86WI1	PKHL1_HUMAN	K	2568	ENSP00000367655:N2568K	ENSP00000367655:N2568K	N	+	3	2	PKHD1L1	110545941	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	0.987000	0.29603	1.345000	0.45676	0.655000	0.94253	AAC		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110476765	C	A	110476765	3	1	42	1	0	0	0	0	1	0	0	0	11972	477	17	5	7898	5	PKHD1L1	8	110476765	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		110476765	35887257	46	2626											
INSL6	11172	broad.mit.edu	37	chr9	5185586	5185586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagccacagcagggacaagCggaggagccgcggcatccct	11	2	14	14	3	0	0	0	0	0	0	1	3	1	3	3	4	4	2	3	4	2	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:5185586C>T	ENST00000381641.3	-	1	82	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	6					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CAGGGACAAGCGGAGGAGCCG	0.642																																						uc003zix.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(16-18)cGc>cAc		Homo sapiens insulin-like 6 (INSL6), mRNA.							27	26	26					9																	5185586		2202	4300	6502	SO:0001583	missense	11172					extracellular region	hormone activity	g.chr9:5185586C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.17G>A	9.37:g.5185586C>T	ENSP00000371054:p.Arg6His						p.R6H	NM_007179	NP_009110	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	0	33	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	6					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	c.17G>A	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228236	0.22542	.	.	ENSG00000120210	ENST00000381641	T	0.49432	0.78	4.25	0.168	0.15012	.	1.268860	0.05303	N	0.523383	T	0.29817	0.0745	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15263	-1.0443	10	0.15499	T	0.54	0.3022	4.7821	0.13208	0.0:0.4612:0.3428:0.196	.	6	Q9Y581	INSL6_HUMAN	H	6	ENSP00000371054:R6H	ENSP00000371054:R6H	R	-	2	0	INSL6	5175586	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.005000	0.03674	0.042000	0.15717	-0.182000	0.12963	CGC		0.642	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		T	5185586	C	T	5185586	3	4	42	1	0	0	0	0	1	0	0	0	7770	768	27	1	632	1	INSL6	9	5185586	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		5185586	136027845	47	2627											
PLIN2	123	broad.mit.edu	37	chr9	19116616	19116616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgctgagtcaggttgCgggcaattgcaagagtacgt	9	9	16	7	2	1	2	1	1	0	1	1	3	1	3	0	3	5	6	0	3	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:19116616C>T	ENST00000276914.2	-	8	1123	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLIN2_ENST00000411567.1_Missense_Mutation_p.R234H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	315					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGTCAGGTTGCGGGCAATTGC	0.463																																						uc003zno.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(943-945)cGc>cAc		Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.							135	114	121					9																	19116616		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19116616C>T	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.944G>A	9.37:g.19116616C>T	ENSP00000276914:p.Arg315His					PLIN2_uc011lna.2_Missense_Mutation_p.R287H	p.R315H	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			7	1154	-			315					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.944G>A	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287501	0.40494	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.10382	2.88;2.88	6.0	5.1	0.69264	.	0.240515	0.43260	D	0.000588	T	0.13415	0.0325	L	0.58428	1.81	0.43292	D	0.995273	B	0.18741	0.03	B	0.21917	0.037	T	0.02263	-1.1186	10	0.34782	T	0.22	.	12.9331	0.58299	0.0:0.8729:0.0:0.1271	.	315	Q99541	PLIN2_HUMAN	H	234;315	ENSP00000415270:R234H;ENSP00000276914:R315H	ENSP00000276914:R315H	R	-	2	0	PLIN2	19106616	0.277000	0.24220	0.980000	0.43619	0.649000	0.38597	0.935000	0.28924	2.846000	0.97976	0.650000	0.86243	CGC		0.463	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		T	19116616	C	T	19116616	3	4	42	1	0	0	0	0	1	0	0	0	12090	768	27	1	373	1	PLIN2	9	19116616	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	13931030	19116616	122096815	48	2628											
FAM75C1	441452	broad.mit.edu	37	chr9	90537694	90537694	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaaagcccaatgtttcccCctactcacaagagggagaac	13	6	8	14	0	1	2	1	0	0	2	2	3	2	2	4	1	3	1	4	1	5	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90537694C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATGTTTCCCCCTACTCACAA	0.483																																						uc010mqi.3																			0											c.(2872-2874)Cct>Tct		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							3	3	3					9																	90537694		633	1469	2102			441452							g.chr9:90537694C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537694C>T						FAM75C1_uc004apq.4_Missense_Mutation_p.P941S|DQ578031_uc022bjg.1_5'Flank	p.P958S	NM_001145124	NP_001138596					3	2901	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2872C>T																																																																																					0.483	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		T	90537694	C	T	90537694	1	4	42	0	1	0	0	0	0	0	0	0	5623	623	22	3		3	FAM75C1	9	90537694	RNA	SNP	C	TCGA-06-0195-01B-01D-1491-08	71421078	90537694	50675737	49	2629											
LOC645961	645961	broad.mit.edu	37	chr9	90745392	90745392	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaaattcactaacagcctCctccatgagacacagctttc	12	10	4	15	0	2	1	2	1	0	1	5	2	4	1	3	0	3	1	3	0	2	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90745392C>T								U6 (132142 upstream) : U3 (243791 downstream)																							CTAACAGCCTCCTCCATGAGA	0.527																																						uc011lti.2																			0											c.(2560-2562)Gag>Aag		Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.							36	35	35					9																	90745392		692	1591	2283	SO:0001628	intergenic_variant	645961							g.chr9:90745392C>T																													9.37:g.90745392C>T						DQ587746_uc004apx.1_5'Flank	p.E854K	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN			3	2589	-			854						Missense_Mutation	SNP		37	c.2560G>A																																																																																				0	0.527									T	90745392	C	T	90745392	1	4	42	0	1	0	0	0	0	0	0	0	8883	864	30	3		3	LOC645961	9	90745392	IGR	SNP	C	TCGA-06-0195-01B-01D-1491-08	207698	90745392	50468039	50	2630											
FBP1	2203	broad.mit.edu	37	chr9	97380089	97380089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggttccaacggacacaagGcaatcgatgttggaagatcc	13	8	11	9	2	0	1	0	0	0	1	3	4	2	3	2	4	1	3	2	4	4	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:97380089G>A	ENST00000375326.4	-	3	583	c.387C>T	c.(385-387)tgC>tgT	p.C129C	FBP1_ENST00000415431.1_Silent_p.C129C	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	129					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CGGACACAAGGCAATCGATGT	0.388																																					Ovarian(142;590 2466 25593 44496)	uc004auw.4																			0				kidney(1)|liver(1)|lung(1)	3						c.(385-387)tgC>tgT		Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						102	85	91					9																	97380089		2203	4300	6503	SO:0001819	synonymous_variant	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380089G>A	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.387C>T	9.37:g.97380089G>A						FBP1_uc010mrl.3_Silent_p.C129C	p.C129C	NM_000507	NP_001121100	P09467	F16P1_HUMAN			2	718	-		Acute lymphoblastic leukemia(62;0.136)	129					O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	c.387C>T	CCDS6712.1																																																																																				0.388	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		A	97380089	G	A	97380089	2	1	42	1	0	0	0	0	0	0	0	1	5705	1195	42	3		3	FBP1	9	97380089	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	6634697	97380089	43833342	51	2631											
GDF2	2658	broad.mit.edu	37	chr10	48413762	48413762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatagcgtgtttcgtcggcGtcacatcgtcagccaagggg	7	9	14	11	6	2	0	2	0	0	0	5	1	2	0	1	3	2	1	1	3	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:48413762G>A	ENST00000249598.1	-	2	1265	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	369					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTTCGTCGGCGTCACATCGTC	0.582																																						uc001jfa.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(1105-1107)aCg>aTg		Homo sapiens growth differentiation factor 2 (GDF2), mRNA.							128	105	113					10																	48413762		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413762G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1106C>T	10.37:g.48413762G>A	ENSP00000249598:p.Thr369Met						p.T369M	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			1	1266	-			369					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.1106C>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644912	0.47258	.	.	ENSG00000128802	ENST00000249598	D	0.88975	-2.45	5.62	5.62	0.85841	Transforming growth factor-beta, C-terminal (3);	0.044369	0.85682	D	0.000000	D	0.94761	0.8309	M	0.81682	2.555	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.95033	0.8171	10	0.87932	D	0	.	18.6283	0.91349	0.0:0.0:1.0:0.0	.	369	Q9UK05	GDF2_HUMAN	M	369	ENSP00000249598:T369M	ENSP00000249598:T369M	T	-	2	0	GDF2	48033768	1.000000	0.71417	0.960000	0.40013	0.271000	0.26615	5.312000	0.65792	2.652000	0.90054	0.585000	0.79938	ACG		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		A	48413762	G	A	48413762	3	1	42	1	0	0	0	0	1	0	0	0	6314	1145	40	1	187	1	GDF2	10	48413762	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		48413762	87120985	52	2632											
PTEN	5728	broad.mit.edu	37	chr10	89692992	89692992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttctatggggaagtaaGgaccagagacaaaaaggtaa	18	7	12	4	0	1	2	0	0	1	2	1	5	1	4	1	4	0	2	1	4	6	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:89692992G>A	ENST00000371953.3	+	5	1833	c.476G>A	c.(475-477)aGg>aAg	p.R159K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	159	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGGAAGTAAGGACCAGAGAC	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(5)|Unknown(5)	p.0?(37)|p.R159K(10)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(475-477)aGg>aAg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							54	56	55					10																	89692992		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692992G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.476G>A	10.37:g.89692992G>A	ENSP00000361021:p.Arg159Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R159K	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1508	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	159			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.476G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268260	0.95429	.	.	ENSG00000171862	ENST00000371953	D	0.99737	-6.59	5.09	5.09	0.68999	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	M	0.83953	2.67	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97857	1.0278	9	.	.	.	-3.7525	18.493	0.90854	0.0:0.0:1.0:0.0	.	159	P60484	PTEN_HUMAN	K	159	ENSP00000361021:R159K	.	R	+	2	0	PTEN	89682972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.341000	0.79615	0.563000	0.77884	AGG		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692992	G	A	89692992	3	1	42	1	0	0	0	0	1	0	0	0	12738	1000	35	3	494	3	PTEN	10	89692992	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	41279230	89692992	45841755	53	2633											
PRDM11	56981	broad.mit.edu	37	chr11	45117447	45117447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcttcctttaccagagaGagaaagtaagttgtttaagc	12	13	8	8	0	1	2	0	0	1	2	3	4	2	2	2	0	2	3	2	0	4	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:45117447G>A	ENST00000530656.1	+	1	91	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PRDM11_ENST00000263765.4_Missense_Mutation_p.E31K			Q9NQV5	PRD11_HUMAN	PR domain containing 11	31							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ttaccagagagagaaagtaag	0.488																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(91-93)Gag>Aag		Homo sapiens PR domain containing 11 (PRDM11), mRNA.							101	85	91					11																	45117447		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45117447G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.91G>A	11.37:g.45117447G>A	ENSP00000435976:p.Glu31Lys						p.E31K	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			1	340	+			31					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.91G>A		.	.	.	.	.	.	.	.	.	.	G	5.870	0.344659	0.11126	.	.	ENSG00000019485	ENST00000263765;ENST00000530656	T;T	0.46451	0.87;0.87	2.61	-0.359	0.12571	.	7739.210000	0.00424	N	0.000071	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19128	-1.0315	10	0.52906	T	0.07	.	3.0538	0.06177	0.2849:0.2341:0.481:0.0	.	31	Q9NQV5	PRD11_HUMAN	K	31	ENSP00000263765:E31K;ENSP00000435976:E31K	ENSP00000263765:E31K	E	+	1	0	PRDM11	45074023	0.743000	0.28239	0.000000	0.03702	0.001000	0.01503	1.437000	0.34991	-0.081000	0.12662	-1.373000	0.01185	GAG		0.488	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		A	45117447	G	A	45117447	3	1	42	1	0	0	0	0	1	0	0	0	12452	943	33	3	93	3	PRDM11	11	45117447	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		45117447	89889069	54	2634											
BCL9L	283149	broad.mit.edu	37	chr11	118773532	118773532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggggtggcggcggcGgcagtggaggtggctgggac	3	4	26	8	4	0	0	0	0	0	0	0	2	0	2	1	11	0	2	1	11	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:118773532G>A	ENST00000334801.3	-	6	1884	c.920C>T	c.(919-921)cCg>cTg	p.P307L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	307	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCGGCGGCGGCAGTGGAGG	0.716																																						uc001pug.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(919-921)cCg>cTg		Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.							5	7	6					11																	118773532		1968	3996	5964	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773532G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.920C>T	11.37:g.118773532G>A	ENSP00000335320:p.Pro307Leu					BCL9L_uc009zal.3_Missense_Mutation_p.P302L	p.P307L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	5	1885	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	307			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.920C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100174	0.37048	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65178	-0.14	4.1	4.1	0.47936	.	0.000000	0.44902	D	0.000415	T	0.64371	0.2592	N	0.14661	0.345	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.69764	-0.5057	10	0.54805	T	0.06	.	14.68	0.69009	0.0:0.0:1.0:0.0	.	302;307	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	307;270;307;307	ENSP00000335320:P307L	ENSP00000335320:P307L	P	-	2	0	BCL9L	118278742	0.948000	0.32251	0.977000	0.42913	0.629000	0.37895	1.430000	0.34914	2.133000	0.65898	0.305000	0.20034	CCG		0.716	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118773532	G	A	118773532	3	1	42	1	0	0	0	0	1	0	0	0	1382	1116	39	2	3591	2	BCL9L	11	118773532	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	73656085	118773532	16232984	55	2635											
TRIM29	23650	broad.mit.edu	37	chr11	120008709	120008709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttctgggctcgaccCgttgctcctggaggcatctg	3	11	13	14	2	2	0	0	0	2	0	4	2	3	1	3	4	1	5	3	4	0	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:120008709C>T	ENST00000341846.5	-	1	452	c.31G>A	c.(31-33)Ggg>Agg	p.G11R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	11					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGCTCGACCCGTTGCTCCTG	0.632																																						uc001pwz.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(31-33)Ggg>Agg		Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.							17	18	18					11																	120008709		2200	4298	6498	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008709C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.31G>A	11.37:g.120008709C>T	ENSP00000343129:p.Gly11Arg					TRIM29_uc001pxa.3_Non-coding_Transcript	p.G11R	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	0	155	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	11					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.31G>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899199	0.72754	.	.	ENSG00000137699	ENST00000341846;ENST00000529011;ENST00000529495;ENST00000532833;ENST00000529040	T	0.60797	0.16	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000003	T	0.53400	0.1794	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.51615	0.675	T	0.50448	-0.8827	9	.	.	.	.	12.2457	0.54568	0.0:0.9213:0.0:0.0787	.	11	Q14134	TRI29_HUMAN	R	11	ENSP00000343129:G11R	.	G	-	1	0	TRIM29	119513919	0.001000	0.12720	0.771000	0.31576	0.943000	0.58893	0.513000	0.22770	1.256000	0.44068	0.655000	0.94253	GGG		0.632	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		T	120008709	C	T	120008709	3	4	42	1	0	0	0	0	1	0	0	0	16500	652	23	2	1771	2	TRIM29	11	120008709	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1235177	120008709	14997807	56	2636											
LRTM2	654429	broad.mit.edu	37	chr12	1943505	1943505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcggatggtccccaTggagatgttcaactactgct	9	10	12	10	1	1	1	1	0	0	1	2	4	2	3	2	4	4	2	2	4	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:1943505T>G	ENST00000543818.1	+	5	1573	c.731T>G	c.(730-732)aTg>aGg	p.M244R	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.M244R|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.M244R	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	244	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ATGGTCCCCATGGAGATGTTC	0.597																																						uc001qjt.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(730-732)aTg>aGg		Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.							61	50	54					12																	1943505		2203	4300	6503	SO:0001583	missense	654429					integral to membrane		g.chr12:1943505T>G	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.731T>G	12.37:g.1943505T>G	ENSP00000446278:p.Met244Arg					CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	p.M244R	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1537	+	Ovarian(42;0.107)		244			LRRCT.		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.731T>G	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801220	0.31869	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000424079	T;T;T	0.51325	0.71;0.71;0.71	5.32	5.32	0.75619	Cysteine-rich flanking region, C-terminal (1);	0.097380	0.64402	D	0.000001	T	0.30417	0.0764	N	0.10916	0.065	0.47949	D	0.999556	B	0.10296	0.003	B	0.15484	0.013	T	0.08106	-1.0738	10	0.25751	T	0.34	.	15.2906	0.73862	0.0:0.0:0.0:1.0	.	244	Q8N967	LRTM2_HUMAN	R	244;244;244;6	ENSP00000446278:M244R;ENSP00000299194:M244R;ENSP00000444737:M244R	ENSP00000299194:M244R	M	+	2	0	LRTM2	1813766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.802000	0.38853	2.014000	0.59158	0.533000	0.62120	ATG		0.597	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			G	1943505	T	G	1943505	3	3	42	1	0	0	0	0	1	0	0	0	9045	1464	51	5	741	5	LRTM2	12	1943505	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08		1943505	131908390	57	2637											
CD163L1	283316	broad.mit.edu	37	chr12	7527093	7527093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtgctgcccccagccGcgggaagggcactgccacaa	8	4	13	16	3	0	0	0	0	0	0	1	1	0	1	4	2	4	2	4	2	2	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:7527093G>A	ENST00000313599.3	-	13	3411	c.3354C>T	c.(3352-3354)cgC>cgT	p.R1118R	CD163L1_ENST00000396630.1_Silent_p.R1118R|CD163L1_ENST00000416109.2_Silent_p.R1128R|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1118	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCCCCAGCCGCGGGAAGGGC	0.617																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3382-3384)cgC>cgT		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							75	68	70					12																	7527093		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527093G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3354C>T	12.37:g.7527093G>A						CD163L1_uc001qsy.3_Silent_p.R1118R	p.R1128R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			12	3410	-			1118			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3384C>T	CCDS8577.1																																																																																				0.617	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7527093	G	A	7527093	2	1	42	1	0	0	0	0	0	0	0	1	2968	1074	38	1		1	CD163L1	12	7527093	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	5583588	7527093	126324802	58	2638											
OVCH1	341350	broad.mit.edu	37	chr12	29628035	29628035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccttgaagccttgtaaaCgatttttaccatcactttta	10	16	6	9	1	1	1	1	1	0	0	1	2	1	1	3	1	3	1	3	1	5	8	rs376772357		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:29628035C>T	ENST00000318184.5	-	14	1558	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	520	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R520H(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCTTGTAAACGATTTTTACC	0.338																																						uc001rix.1																			1	Substitution - Missense(1)	p.R520H(2)	pancreas(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1558-1560)cGt>cAt		Homo sapiens ovochymase 1 (OVCH1), mRNA.		C	HIS/ARG	0,3688		0,0,1844	61	55	57		1559	-0.1	0	12		57	1,8175		0,1,4087	no	missense	OVCH1	NM_183378.2	29	0,1,5931	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	520/1135	29628035	1,11863	1844	4088	5932	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29628035C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1559G>A	12.37:g.29628035C>T	ENSP00000326708:p.Arg520His						p.R520H	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			13	1559	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		520			CUB 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1559G>A		.	.	.	.	.	.	.	.	.	.	C	10.43	1.347404	0.24426	0.0	1.22E-4	ENSG00000187950	ENST00000318184	T	0.18174	2.23	2.27	-0.115	0.13560	CUB (5);	.	.	.	.	T	0.08846	0.0219	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	9	0.48119	T	0.1	.	6.9179	0.24369	0.0:0.276:0.0:0.724	.	520	Q7RTY7	OVCH1_HUMAN	H	520	ENSP00000326708:R520H	ENSP00000326708:R520H	R	-	2	0	OVCH1	29519302	0.081000	0.21417	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	-0.042000	0.13535	-0.698000	0.03680	CGT		0.338	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		T	29628035	C	T	29628035	3	4	42	1	0	0	0	0	1	0	0	0	11323	536	19	1	1905	1	OVCH1	12	29628035	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	22100942	29628035	104223860	59	2639											
KRT79	338785	broad.mit.edu	37	chr12	53217720	53217720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcctctggatagtgcggGtgagctcagcaatctcgttc	7	10	13	11	2	3	1	1	1	2	0	5	2	3	2	1	2	4	4	1	2	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53217720G>A	ENST00000330553.5	-	6	1131	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	366	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAGTGCGGGTGAGCTCAGC	0.612																																						uc001sbb.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1096-1098)aCc>aTc		Homo sapiens keratin 79 (KRT79), mRNA.							84	67	73					12																	53217720		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53217720G>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1097C>T	12.37:g.53217720G>A	ENSP00000328358:p.Thr366Ile					KRT79_uc001sba.3_Missense_Mutation_p.T137I	p.T366I	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			5	1130	-			366			Coil 2.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1097C>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360258	0.61403	.	.	ENSG00000185640	ENST00000330553	D	0.88741	-2.42	4.03	4.03	0.46877	Filament (1);	0.000000	0.48286	D	0.000190	D	0.92309	0.7560	M	0.72894	2.215	0.34567	D	0.713065	D	0.58970	0.984	P	0.62560	0.904	D	0.94792	0.7963	10	0.87932	D	0	.	11.8461	0.52385	0.0:0.0:0.8127:0.1873	.	366	Q5XKE5	K2C79_HUMAN	I	366	ENSP00000328358:T366I	ENSP00000328358:T366I	T	-	2	0	KRT79	51503987	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.619000	0.36965	2.535000	0.85469	0.549000	0.68633	ACC		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		A	53217720	G	A	53217720	3	1	42	1	0	0	0	0	1	0	0	0	8492	1261	44	3	526	3	KRT79	12	53217720	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	23589685	53217720	80634175	60	2640											
EIF4B	1975	broad.mit.edu	37	chr12	53421578	53421578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctagagtatcgagatcGttatgattcagaccggtatc	10	13	9	9	3	2	4	1	1	1	3	6	5	3	4	2	1	0	3	2	1	4	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53421578G>A	ENST00000262056.9	+	7	1006	c.680G>A	c.(679-681)cGt>cAt	p.R227H	EIF4B_ENST00000416762.3_Missense_Mutation_p.R188H|EIF4B_ENST00000420463.3_Missense_Mutation_p.R227H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	227	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TATCGAGATCGTTATGATTCA	0.483																																						uc001sbh.4																			0		p.R227C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(679-681)cGt>cAt		Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.							157	144	148					12																	53421578		1940	4131	6071	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421578G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.680G>A	12.37:g.53421578G>A	ENSP00000262056:p.Arg227His					EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227H|EIF4B_uc010snv.2_Missense_Mutation_p.R188H	p.R227H	NM_001417	NP_001408	P23588	IF4B_HUMAN			6	886	+			227			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.680G>A	CCDS41788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.90|17.90	3.502457|3.502457	0.64298|0.64298	.|.	.|.	ENSG00000063046|ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000416762;ENST00000549481|ENST00000430205	T;T;D|.	0.93659|.	0.55;0.54;-3.26|.	3.96|3.96	3.07|3.07	0.35406|0.35406	.|.	0.067071|0.067071	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.53626|0.53626	0.1808|0.1808	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	B;B;B|.	0.20459|.	0.045;0.027;0.027|.	B;B;B|.	0.14023|.	0.01;0.005;0.005|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|7	0.25751|0.49607	T|T	0.34|0.09	.|.	9.7108|9.7108	0.40245|0.40245	0.1036:0.0:0.8964:0.0|0.1036:0.0:0.8964:0.0	.|.	188;227;227|.	B4DS13;E7EX17;P23588|.	.;.;IF4B_HUMAN|.	H|Q	227;227;188;182|227	ENSP00000262056:R227H;ENSP00000388806:R227H;ENSP00000449746:R182H|.	ENSP00000262056:R227H|ENSP00000414531:R227Q	R|R	+|+	2|2	0|0	EIF4B|EIF4B	51707845|51707845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.648000|5.648000	0.67930|0.67930	1.252000|1.252000	0.44001|0.44001	0.655000|0.655000	0.94253|0.94253	CGT|CGA		0.483	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		A	53421578	G	A	53421578	3	1	42	1	0	0	0	0	1	0	0	0	5027	1145	40	1	706	1	EIF4B	12	53421578	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	203858	53421578	80430317	61	2641											
CPSF6	11052	broad.mit.edu	37	chr12	69646899	69646899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatattttggagataaaAttttttgaaaatcgggcaaa	17	14	8	2	1	0	3	0	2	0	1	1	4	0	3	0	2	0	1	0	2	7	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:69646899A>C	ENST00000435070.2	+	3	449	c.339A>C	c.(337-339)aaA>aaC	p.K113N	CPSF6_ENST00000456847.3_Missense_Mutation_p.K113N|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.K113N|CPSF6_ENST00000550987.1_3'UTR	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	113	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGAGATAAAATTTTTTGAAA	0.323																																						uc001sut.4																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(337-339)aaA>aaC		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							60	65	63					12																	69646899		2203	4299	6502	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69646899A>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.339A>C	12.37:g.69646899A>C	ENSP00000391774:p.Lys113Asn					CPSF6_uc001suu.4_Missense_Mutation_p.K113N	p.K113N	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		2	449	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		113			Necessary for interaction with NUDT21/CPSF5.|RRM.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.339A>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005749	0.54254	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.09255	3.0;3.0;3.0	5.18	1.48	0.22813	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.75085	2.285	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.76071	0.978;0.987	T	0.00575	-1.1663	9	.	.	.	-12.785	10.1008	0.42504	0.7325:0.0:0.2675:0.0	.	113;113	Q16630-2;Q16630	.;CPSF6_HUMAN	N	113	ENSP00000391774:K113N;ENSP00000391437:K113N;ENSP00000266679:K113N	.	K	+	3	2	CPSF6	67933166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.375000	0.44283	0.146000	0.19002	0.533000	0.62120	AAA		0.323	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		C	69646899	A	C	69646899	3	2	42	1	0	0	0	0	1	0	0	0	3829	98	4	5	349	5	CPSF6	12	69646899	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	16225321	69646899	64204996	62	2642											
HAL	3034	broad.mit.edu	37	chr12	96389631	96389631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccacagtgagctgcgCgtcctggcagggcactgcca	7	5	13	16	2	0	1	0	1	0	0	1	1	1	1	4	2	4	3	4	2	0	0	rs200511325		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:96389631C>T	ENST00000261208.3	-	2	426	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	HAL_ENST00000538703.1_Missense_Mutation_p.A20T|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	20					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTGAGCTGCGCGTCCTGGCAG	0.642																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(58-60)Gcg>Acg		Homo sapiens histidine ammonia-lyase (HAL), mRNA.	L-Histidine(DB00117)						34	29	31					12																	96389631		2202	4297	6499	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389631C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.58G>A	12.37:g.96389631C>T	ENSP00000261208:p.Ala20Thr					HAL_uc010sux.1_Missense_Mutation_p.A20T|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	p.A20T	NM_002108	NP_002099	P42357	HUTH_HUMAN			1	355	-			20					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.58G>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665154	0.29604	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86030	-1.09;-1.08;-2.06	5.2	3.27	0.37495	.	0.629120	0.17777	N	0.162376	T	0.74030	0.3663	L	0.36672	1.1	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.58803	-0.7572	10	0.31617	T	0.26	-5.982	4.1429	0.10201	0.1489:0.5731:0.1462:0.1318	.	20;20	F5GXF2;P42357	.;HUTH_HUMAN	T	20	ENSP00000261208:A20T;ENSP00000440861:A20T;ENSP00000450372:A20T	ENSP00000261208:A20T	A	-	1	0	HAL	94913762	0.000000	0.05858	0.746000	0.31095	0.670000	0.39368	-0.062000	0.11674	1.259000	0.44117	0.491000	0.48974	GCG		0.642	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			T	96389631	C	T	96389631	3	4	42	1	0	0	0	0	1	0	0	0	6947	768	27	1	1995	1	HAL	12	96389631	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	26742732	96389631	37462264	63	2643											
STAB2	55576	broad.mit.edu	37	chr12	104126949	104126949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgaagtttcatgtgataCgagatgccaaggtatttagt	12	15	10	4	1	1	3	1	2	0	1	1	4	1	3	1	1	2	2	1	1	5	6	rs199907100		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104126949C>T	ENST00000388887.2	+	51	5653	c.5449C>T	c.(5449-5451)Cga>Tga	p.R1817*		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCATGTGATACGAGATGCCAA	0.463													C|||	1	0.000199681	0	0	5008	,	,		23920	0.001		0	False		,,,				2504	0					uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5449-5451)Cga>Tga		Homo sapiens stabilin 2 (STAB2), mRNA.		C	stop/ARG	0,4406		0,0,2203	204	182	189		5449	4	1	12		189	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	STAB2	NM_017564.9		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1817/2552	104126949	1,13005	2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104126949C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5449C>T	12.37:g.104126949C>T	ENSP00000373539:p.Arg1817*					STAB2_uc009zug.3_Non-coding_Transcript	p.R1817*	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			50	5635	+			1817			FAS1 6.			Nonsense_Mutation	SNP	ENST00000388887.2	37	c.5449C>T	CCDS31888.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	46	12.961855	0.99709	0.0	1.16E-4	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.01	4.03	0.46877	.	0.156225	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7749	0.23615	0.3457:0.5143:0.14:0.0	.	.	.	.	X	1817;504	.	ENSP00000258495:R504X	R	+	1	2	STAB2	102651079	0.999000	0.42202	1.000000	0.80357	0.849000	0.48306	1.000000	0.29770	2.326000	0.78906	0.655000	0.94253	CGA		0.463	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104126949	C	T	104126949	4	4	42	1	0	0	0	0	0	1	0	0	15237	528	19	1	5651	1	STAB2	12	104126949	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	7737318	104126949	29724946	64	2644											
NFYB	4801	broad.mit.edu	37	chr12	104517017	104517017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttacctctctgaatttcTgaaggtataatttcagaggt	11	17	7	6	0	3	3	1	2	2	1	4	3	3	3	1	2	1	1	1	2	6	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104517017T>C	ENST00000240055.3	-	5	643	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Missense_Mutation_p.Q139R	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	139	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAATTTCTGAAGGTATAA	0.363																																						uc001tkl.1																			0				large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(415-417)cAg>cGg		Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.							73	72	72					12																	104517017		2203	4300	6503	SO:0001583	missense	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104517017T>C		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.416A>G	12.37:g.104517017T>C	ENSP00000240055:p.Gln139Arg						p.Q139R	NM_006166	NP_006157	P25208	NFYB_HUMAN			4	617	-			139			B domain.		A8K7B9|Q96IY8	Missense_Mutation	SNP	ENST00000240055.3	37	c.416A>G	CCDS9098.1	.	.	.	.	.	.	.	.	.	.	.	18.65	3.669516	0.67814	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.22134	1.97;1.97	5.49	5.49	0.81192	Histone-fold (2);	0.111193	0.64402	D	0.000006	T	0.22975	0.0555	M	0.67953	2.075	0.80722	D	1	P	0.35872	0.525	B	0.24269	0.052	T	0.04413	-1.0953	10	0.59425	D	0.04	-18.2343	15.5928	0.76550	0.0:0.0:0.0:1.0	.	139	P25208	NFYB_HUMAN	R	139	ENSP00000240055:Q139R;ENSP00000447486:Q139R	ENSP00000240055:Q139R	Q	-	2	0	NFYB	103041147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.088000	0.63022	0.482000	0.46254	CAG		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			C	104517017	T	C	104517017	3	2	42	1	0	0	0	0	1	0	0	0	10390	1580	55	4	223	4	NFYB	12	104517017	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	390068	104517017	29334878	65	2645											
TPCN1	53373	broad.mit.edu	37	chr12	113724880	113724880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatttcatcgtggtcctgCgccccctccagctgctgagg	4	12	10	15	2	2	1	1	1	1	0	5	1	4	1	4	2	3	2	4	2	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113724880C>T	ENST00000335509.6	+	19	1929	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	TPCN1_ENST00000392569.4_Missense_Mutation_p.R471C|TPCN1_ENST00000541517.1_Missense_Mutation_p.R611C|TPCN1_ENST00000550785.1_Missense_Mutation_p.R611C	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	539					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CGTGGTCCTGCGCCCCCTCCA	0.617																																						uc001tux.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1831-1833)Cgc>Tgc		Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.							115	98	104					12																	113724880		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113724880C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1615C>T	12.37:g.113724880C>T	ENSP00000335300:p.Arg539Cys					TPCN1_uc001tuw.3_Missense_Mutation_p.R539C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	p.R611C	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN			19	2005	+			539					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1831C>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384986	0.82792	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98626	1.0669	10	0.87932	D	0	-10.6929	19.4665	0.94945	0.0:1.0:0.0:0.0	.	539;611;539	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	C	539;611;611;471	ENSP00000335300:R539C;ENSP00000448083:R611C;ENSP00000438125:R611C;ENSP00000376350:R471C	ENSP00000335300:R539C	R	+	1	0	TPCN1	112209263	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	2.682000	0.91365	0.643000	0.83706	CGC		0.617	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		T	113724880	C	T	113724880	3	4	42	1	0	0	0	0	1	0	0	0	16392	768	27	1	1905	1	TPCN1	12	113724880	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	9207863	113724880	20127015	66	2646											
SDSL	113675	broad.mit.edu	37	chr12	113873227	113873227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggggtgggggtctcctGgccggggtggtggctggcct	0	10	23	8	1	1	0	0	0	1	0	2	0	1	0	3	10	0	2	3	10	0	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113873227G>A	ENST00000403593.4	+	6	799	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SDSL_ENST00000345635.4_Silent_p.L179L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	179					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGGGTCTCCTGGCCGGGGTGG	0.657																																						uc001tvi.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(535-537)ctG>ctA		Homo sapiens serine dehydratase-like (SDSL), mRNA.	Pyridoxal Phosphate(DB00114)						22	24	24					12																	113873227		2200	4296	6496	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873227G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.537G>A	12.37:g.113873227G>A						SDSL_uc009zwh.3_Silent_p.L179L	p.L179L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			6	744	+			179						Silent	SNP	ENST00000403593.4	37	c.537G>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	1.127	-0.653681	0.03480	.	.	ENSG00000139410	ENST00000546672	.	.	.	4.49	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6223	3.3933	0.07297	0.16:0.1344:0.5678:0.1379	.	.	.	.	X	75	.	.	W	+	2	0	SDSL	112357610	0.973000	0.33851	0.878000	0.34440	0.230000	0.25150	0.347000	0.20014	0.420000	0.25954	0.462000	0.41574	TGG		0.657	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		A	113873227	G	A	113873227	2	1	42	1	0	0	0	0	0	0	0	1	13976	1335	47	3		3	SDSL	12	113873227	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	148347	113873227	19978668	67	2647											
SCARB1	949	broad.mit.edu	37	chr12	125292425	125292425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacgaagcgataggtGgggatgccttcaaacacccc	11	5	13	12	2	1	0	1	0	0	0	1	4	1	2	4	4	4	0	4	4	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:125292425G>A	ENST00000415380.2	-	7	1016	c.891C>T	c.(889-891)ccC>ccT	p.P297P	SCARB1_ENST00000540495.1_Silent_p.P260P|SCARB1_ENST00000261693.6_Silent_p.P297P|SCARB1_ENST00000544327.1_Silent_p.P243P|SCARB1_ENST00000376788.1_Silent_p.P197P|SCARB1_ENST00000546215.1_Silent_p.P297P|SCARB1_ENST00000339570.5_Silent_p.P297P|SCARB1_ENST00000541205.1_Silent_p.P256P|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	297			P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages). {ECO:0000269|PubMed:21226579}.		adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGATAGGTGGGGATGCCTT	0.582																																						uc001ugp.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(889-891)ccC>ccT		Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						121	102	109					12																	125292425		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125292425G>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.891C>T	12.37:g.125292425G>A						SCARB1_uc001ugm.4_Silent_p.P297P|SCARB1_uc001ugn.4_Silent_p.P297P|SCARB1_uc010tbd.2_Silent_p.P297P|SCARB1_uc001ugo.4_Silent_p.P297P	p.P297P	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	6	1144	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297		P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.891C>T																																																																																					0.582	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		A	125292425	G	A	125292425	2	1	42	1	0	0	0	0	0	0	0	1	13881	1335	47	3		3	SCARB1	12	125292425	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	11419198	125292425	8559470	68	2648											
RB1	5925	broad.mit.edu	37	chr13	48947596	48947596	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaaattcagcaagtgatCaaccttcagaaaatctgatt	15	14	5	7	0	4	3	3	2	1	1	4	3	4	3	1	0	2	1	1	0	6	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr13:48947596C>T	ENST00000267163.4	+	12	1321	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.Q395*(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGCAAGTGATCAACCTTCAGA	0.294		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(3)	p.0?(15)|p.?(8)|p.Q395*(6)	bone(11)|breast(5)|central_nervous_system(3)|eye(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1183-1185)Caa>Taa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						105	112	110					13																	48947596		2203	4290	6493	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947596C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1183C>T	13.37:g.48947596C>T	ENSP00000267163:p.Gln395*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.Q96*	p.Q395*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	11	1349	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	395			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1183C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	37	6.598848	0.97692	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.54	5.54	0.83059	.	0.056954	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.5764	0.56365	0.2786:0.7214:0.0:0.0	.	.	.	.	X	374;395	.	ENSP00000267163:Q395X	Q	+	1	0	RB1	47845597	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.375000	0.44283	2.612000	0.88384	0.563000	0.77884	CAA		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	48947596	C	T	48947596	4	4	42	1	0	0	0	0	0	1	0	0	13098	827	29	3	1229	3	RB1	13	48947596	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		48947596	66222282	69	2649											
OR4K5	79317	broad.mit.edu	37	chr14	20389151	20389151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatgtagccatatgcaaacCcttatactatgtggtcatca	12	13	7	9	0	2	0	2	0	0	0	2	0	2	0	2	1	4	3	2	1	7	6	rs559771911	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr14:20389151C>A	ENST00000315915.4	+	1	411	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATGCAAACCCTTATACTAT	0.448													C|||	4	0.000798722	0.003	0	5008	,	,		30595	0		0	False		,,,				2504	0					uc010tkw.2																			0		p.P129S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(385-387)cCc>cAc		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							225	224	224					14																	20389151		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389151C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.386C>A	14.37:g.20389151C>A	ENSP00000319511:p.Pro129His						p.P129H	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	386	+	all_cancers(95;0.00108)		129					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.386C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.280781	0.59758	.	.	ENSG00000176281	ENST00000315915	T	0.01918	4.56	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000126	T	0.24661	0.0598	H	0.98883	4.36	0.50313	D	0.999868	D	0.89917	1.0	D	0.87578	0.998	T	0.49790	-0.8902	10	0.87932	D	0	.	14.5138	0.67807	0.0:1.0:0.0:0.0	.	129	Q8NGD3	OR4K5_HUMAN	H	129	ENSP00000319511:P129H	ENSP00000319511:P129H	P	+	2	0	OR4K5	19458991	1.000000	0.71417	0.919000	0.36401	0.304000	0.27724	6.964000	0.76061	2.269000	0.75478	0.655000	0.94253	CCC		0.448	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		A	20389151	C	A	20389151	3	1	42	1	0	0	0	0	1	0	0	0	11073	623	22	5	388	5	OR4K5	14	20389151	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		20389151	86960389	70	2650											
RNF151	146310	broad.mit.edu	37	chr16	2018613	2018614	+	Frame_Shift_Ins	INS	-	-	C																															caagggtcccagcagcgctgINSccccctgggctgcggggcca																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:2018613_2018614insC	ENST00000569714.1	+	4	433_434	c.425_426insC	c.(424-429)tgccccfs	p.CP142fs	RNF151_ENST00000321392.3_Frame_Shift_Ins_p.CP141fs|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	142					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CAGCAGCGCTGCCCCCTGGGCT	0.728																																						uc002cnt.1																			0				kidney(1)|lung(1)	2						c.(424-426)tgcfs		Homo sapiens ring finger protein 151 (RNF151), mRNA.																																				SO:0001589	frameshift_variant	146310				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2018613_2018614insC	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.430dupC	16.37:g.2018618_2018618dupC	ENSP00000456566:p.Cys142fs					TCRBV20S1_uc021tak.1_Intron	p.C142fs	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN			3	433_434	+			142					Q8NHS5	Frame_Shift_Ins	INS	ENST00000569714.1	37	c.425_426insC	CCDS58405.1																																																																																				0.728	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		C	2018614	-	C	2018613	7	5	42	1	0	1	1	0	0	0	0	0	13452	1319	46	0	439	0	RNF151	16	2018613	Frame_Shift_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		2018613	88336140	71	2651											
ITGAX	3687	broad.mit.edu	37	chr16	31392315	31392315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggcactcatcacagCggtactgtacaaagtgagtg	10	9	12	10	1	2	1	2	1	0	0	2	1	2	1	0	2	4	5	0	2	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:31392315C>T	ENST00000268296.4	+	29	3495	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1125V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1125					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCACAGCGGTACTGTAC	0.542																																						uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3373-3375)gCg>gTg		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							127	92	104					16																	31392315		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31392315C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3374C>T	16.37:g.31392315C>T	ENSP00000268296:p.Ala1125Val					ITGAX_uc002ebu.1_Missense_Mutation_p.A1125V	p.A1125V	NM_000887	NP_000878	P20702	ITAX_HUMAN			28	3441	+			1125					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3374C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427378	0.25726	.	.	ENSG00000140678	ENST00000268296	T	0.50813	0.73	4.18	3.22	0.36961	.	.	.	.	.	T	0.39545	0.1082	L	0.49571	1.57	0.19575	N	0.999966	D;P	0.69078	0.997;0.94	P;P	0.47075	0.536;0.501	T	0.23619	-1.0183	9	0.02654	T	1	.	8.1453	0.31108	0.0:0.8879:0.0:0.1121	.	1125;310	P20702;Q8TES5	ITAX_HUMAN;.	V	1125	ENSP00000268296:A1125V	ENSP00000268296:A1125V	A	+	2	0	ITGAX	31299816	0.003000	0.15002	0.179000	0.23059	0.063000	0.16089	0.537000	0.23144	1.097000	0.41459	0.585000	0.79938	GCG		0.542	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31392315	C	T	31392315	3	4	42	1	0	0	0	0	1	0	0	0	7889	768	27	1	3488	1	ITGAX	16	31392315	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	29373702	31392315	58962438	72	2652											
SLC16A13	201232	broad.mit.edu	37	chr17	6941650	6941650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagggggtccctgctgctgGtgtctgccctctccctccac	2	10	13	16	0	2	0	0	0	2	0	5	1	4	1	4	4	3	2	4	4	0	0	rs139041380		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:6941650G>A	ENST00000308027.6	+	3	831	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	175						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTGCTGCTGGTGTCTGCCCT	0.667																																						uc002geh.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(523-525)Gtg>Atg		Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.							73	72	72					17																	6941650		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941650G>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.523G>A	17.37:g.6941650G>A	ENSP00000309751:p.Val175Met						p.V175M	NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN			2	831	+			175					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.523G>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865189	0.71949	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.74	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.067062	0.64402	D	0.000012	T	0.44393	0.1291	N	0.25647	0.755	0.41455	D	0.988002	P	0.37548	0.599	B	0.42062	0.374	T	0.49173	-0.8967	10	0.66056	D	0.02	.	12.3551	0.55171	0.0:0.2845:0.7155:0.0	.	175	Q7RTY0	MOT13_HUMAN	M	175	ENSP00000309751:V175M	ENSP00000309751:V175M	V	+	1	0	SLC16A13	6882374	0.978000	0.34361	1.000000	0.80357	0.945000	0.59286	1.876000	0.39588	2.712000	0.92718	0.563000	0.77884	GTG		0.667	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			A	6941650	G	A	6941650	3	1	42	1	0	0	0	0	1	0	0	0	14406	1261	44	3	533	3	SLC16A13	17	6941650	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		6941650	74253560	73	2653											
DVL2	1856	broad.mit.edu	37	chr17	7130543	7130543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcctcccgccgctcaGgaaagccctccacgtgatgg	6	6	13	16	4	1	1	1	1	0	0	3	2	3	2	5	3	2	1	5	3	1	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7130543G>A	ENST00000005340.5	-	13	1691	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.P464L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	470	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGCCGCTCAGGAAAGCCCTC	0.577																																						uc002gez.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1408-1410)cCt>cTt		Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.							101	103	102					17																	7130543		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7130543G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1409C>T	17.37:g.7130543G>A	ENSP00000005340:p.Pro470Leu					DVL2_uc010vtr.1_Missense_Mutation_p.P464L	p.P470L	NM_004422	NP_004413	O14641	DVL2_HUMAN			12	1691	-			470			DEP.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1409C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238584	0.39598	.	.	ENSG00000004975	ENST00000005340	T	0.21031	2.03	4.5	4.5	0.54988	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.068649	0.64402	D	0.000010	T	0.07908	0.0198	N	0.02158	-0.66	0.53688	D	0.999973	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.0	T	0.24261	-1.0165	10	0.27082	T	0.32	-11.028	9.8629	0.41125	0.0:0.0:0.7959:0.2041	.	464;470	B4DLQ0;O14641	.;DVL2_HUMAN	L	470	ENSP00000005340:P470L	ENSP00000005340:P470L	P	-	2	0	DVL2	7071267	0.997000	0.39634	0.997000	0.53966	0.993000	0.82548	2.616000	0.46376	2.351000	0.79841	0.591000	0.81541	CCT		0.577	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		A	7130543	G	A	7130543	3	1	42	1	0	0	0	0	1	0	0	0	4836	1000	35	3	813	3	DVL2	17	7130543	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	188893	7130543	74064667	74	2654											
TP53	7157	broad.mit.edu	37	chr17	7577096	7577096	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctctgtgcgccggTctctcccaggacaggcacaa	6	10	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	1	1	rs587781525		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577096T>G	ENST00000269305.4	-	8	1031	c.842A>C	c.(841-843)gAc>gCc	p.D281A	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.D281A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.D281A|TP53_ENST00000359597.4_Missense_Mutation_p.D281A|TP53_ENST00000455263.2_Missense_Mutation_p.D281A	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTGCGCCGGTCTCTCCCAGG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.R280T(61)|p.R280K(47)|p.D281E(28)|p.D281N(26)|p.D281G(20)|p.R280G(19)|p.D281H(19)|p.R280S(15)|p.R280I(14)|p.D281Y(11)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004343|CM056068	TP53	M		c.(841-843)gAc>gCc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							82	70	74					17																	7577096		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577096T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.842A>C	17.37:g.7577096T>G	ENSP00000269305:p.Asp281Ala	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149A|TP53_uc010cnf.1_Missense_Mutation_p.D149A|TP53_uc002gii.1_Missense_Mutation_p.D149A|TP53_uc010cni.1_Missense_Mutation_p.D281A|TP53_uc010cnh.1_Missense_Mutation_p.D281A|TP53_uc002gij.2_Missense_Mutation_p.D281A|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.D281A	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1036	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.842A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846092	0.91277	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.97110	0.992;1.0;0.992;0.988	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	281;281;281;281;281;270;149	ENSP00000352610:D281A;ENSP00000269305:D281A;ENSP00000398846:D281A;ENSP00000391127:D281A;ENSP00000391478:D281A;ENSP00000425104:D149A	ENSP00000269305:D281A	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577096	T	G	7577096	3	3	42	1	0	0	0	0	1	0	0	0	16378	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	446553	7577096	73618114	75	2655											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	11	10	5	15	1	2	1	2	0	0	1	4	1	4	1	4	0	3	3	4	0	4	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTTCCGTCCCAGTAGATTA	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	p.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)Gga>Aga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49	44	46					17																	7577142		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577142C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G266R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	990	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.796G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577142	C	T	7577142	3	4	42	1	0	0	0	0	1	0	0	0	16378	632	22	3	490	3	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	46	7577142	73618068	76	2656											
CCDC42	146849	broad.mit.edu	37	chr17	8638499	8638499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctggaagaggttcagcGtggccatcttaatggtgcca	9	10	13	9	2	3	1	1	0	2	1	3	3	3	2	2	4	2	1	2	4	2	2	rs141089641	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:8638499G>A	ENST00000293845.3	-	6	1014	c.788C>T	c.(787-789)aCg>aTg	p.T263M	CCDC42_ENST00000539522.2_Missense_Mutation_p.T189M	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	263										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GAGGTTCAGCGTGGCCATCTT	0.587													G|||	2	0.000399361	0	0.0014	5008	,	,		18409	0		0.001	False		,,,				2504	0					uc002gln.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(787-789)aCg>aTg		Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.		G	MET/THR,MET/THR	0,4406		0,0,2203	139	111	121		566,788	5.1	0.1	17	dbSNP_134	121	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	CCDC42	NM_001158261.1,NM_144681.2	81,81	0,13,6490	AA,AG,GG		0.1512,0.0,0.1	probably-damaging,probably-damaging	189/243,263/317	8638499	13,12993	2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638499G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.788C>T	17.37:g.8638499G>A	ENSP00000293845:p.Thr263Met					CCDC42_uc002glo.3_Missense_Mutation_p.T189M	p.T263M	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			5	1015	-			263					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.788C>T	CCDS11145.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.0	4.074729	0.76415	0.0	0.001512	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.26518	1.85;1.73	5.11	5.11	0.69529	.	0.209940	0.33515	N	0.004829	T	0.40297	0.1111	L	0.54323	1.7	0.34382	D	0.693263	D	0.71674	0.998	P	0.54270	0.747	T	0.52719	-0.8538	10	0.59425	D	0.04	-20.1098	17.4684	0.87639	0.0:0.0:1.0:0.0	.	263	Q96M95	CCD42_HUMAN	M	263;189	ENSP00000293845:T263M;ENSP00000444359:T189M	ENSP00000293845:T263M	T	-	2	0	CCDC42	8579224	0.999000	0.42202	0.134000	0.22075	0.976000	0.68499	4.390000	0.59646	2.666000	0.90696	0.655000	0.94253	ACG		0.587	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		A	8638499	G	A	8638499	3	1	42	1	0	0	0	0	1	0	0	0	2814	1145	40	1	170	1	CCDC42	17	8638499	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	1061357	8638499	72556711	77	2657											
SLFN5	162394	broad.mit.edu	37	chr17	33591324	33591324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcaaggaatattgattTtttctcaaagctgggctgtg	9	16	9	7	0	3	1	2	1	2	0	5	2	3	2	0	2	1	2	0	2	4	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:33591324T>C	ENST00000299977.4	+	4	1409	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	421					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AATATTGATTTTTTCTCAAAG	0.418																																						uc002hjf.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1261-1263)Ttt>Ctt		Homo sapiens schlafen family member 5 (SLFN5), mRNA.							98	96	97					17																	33591324		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591324T>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1261T>C	17.37:g.33591324T>C	ENSP00000299977:p.Phe421Leu					SLFN5_uc010wcg.2_Intron	p.F421L	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	3	1378	+		Ovarian(249;0.17)	421					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1261T>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457368	0.26161	.	.	ENSG00000166750	ENST00000299977	T	0.01947	4.54	3.33	-0.277	0.12898	.	0.000000	0.39020	N	0.001493	T	0.01976	0.0062	L	0.45744	1.44	0.19300	N	0.999974	B	0.17852	0.024	B	0.12837	0.008	T	0.48468	-0.9033	10	0.16896	T	0.51	.	5.8251	0.18548	0.0:0.3991:0.0:0.6009	.	421	Q08AF3	SLFN5_HUMAN	L	421	ENSP00000299977:F421L	ENSP00000299977:F421L	F	+	1	0	SLFN5	30615437	0.090000	0.21635	0.023000	0.16930	0.950000	0.60333	0.123000	0.15708	-0.185000	0.10550	0.460000	0.39030	TTT		0.418	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		C	33591324	T	C	33591324	3	2	42	1	0	0	0	0	1	0	0	0	14737	1841	64	4	1271	4	SLFN5	17	33591324	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	24952825	33591324	47603886	78	2658											
FAM117A	81558	broad.mit.edu	37	chr17	47788746	47788746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcctggggctggcCgggggaaggggagatcccgg	4	5	24	8	2	0	1	0	0	0	1	1	3	1	2	3	11	0	1	3	11	1	0	rs371670103		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:47788746C>T	ENST00000240364.2	-	8	1312	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	FAM117A_ENST00000513602.1_Silent_p.P139P|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	411	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGGGCTGGCCGGGGGAAGGG	0.652																																						uc002ipk.3																			0		p.P411L(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(1231-1233)ccG>ccA		Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	28	32	30		1233	-8.5	0	17		30	0,8600		0,0,4300	no	coding-synonymous	FAM117A	NM_030802.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		411/454	47788746	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81558							g.chr17:47788746C>T	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1233G>A	17.37:g.47788746C>T						FAM117A_uc010wlz.2_Silent_p.P139P	p.P411P	NM_030802	NP_110429	Q9C073	F117A_HUMAN			7	1302	-			411			Pro-rich.		B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.1233G>A	CCDS11553.1																																																																																				0.652	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		T	47788746	C	T	47788746	2	4	42	1	0	0	0	0	0	0	0	1	5409	639	23	2		2	FAM117A	17	47788746	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	14197422	47788746	33406464	79	2659											
KCTD2	23510	broad.mit.edu	37	chr17	73049201	73049201	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagaacagaacttcacaaGtaatgtatttggaactgtta	16	12	8	5	0	1	2	1	1	0	2	1	4	1	3	0	1	3	3	0	1	7	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:73049201G>A	ENST00000322444.6	+	3	546		c.e3+1		KCTD2_ENST00000581589.1_Splice_Site	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2						protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					AACTTCACAAGTAATGTATTT	0.478																																						uc002jmp.3																			0				kidney(1)|lung(2)	3						c.e3+1		Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.							105	93	97					17																	73049201		2203	4300	6503	SO:0001630	splice_region_variant	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73049201G>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.540+1G>A	17.37:g.73049201G>A						KCTD2_uc010dfz.3_Splice_Site|KCTD2_uc002jmq.3_Splice_Site	p.Q180_splice	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			3	607	+	all_lung(278;0.226)		180						Splice_Site	SNP	ENST00000322444.6	37	c.540_splice	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826892	0.90955	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7736	0.96383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCTD2	70560796	1.000000	0.71417	0.945000	0.38365	0.948000	0.59901	9.391000	0.97249	2.668000	0.90789	0.655000	0.94253	.		0.478	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1		Intron	A	73049201	G	A	73049201	5	1	42	1	0	0	0	0	0	0	1	0	8107	1043	36	3	551	3	KCTD2	17	73049201	Splice_Site	SNP	G	TCGA-06-0195-01B-01D-1491-08	25260455	73049201	8146009	80	2660											
NFIX	4784	broad.mit.edu	37	chr19	13184252	13184252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcacttaagtttccaGgactgttttgtgacttccgg	7	14	11	9	1	1	1	1	1	0	0	3	2	3	2	2	3	0	3	2	3	1	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:13184252G>A	ENST00000592199.1	+	4	639	c.639G>A	c.(637-639)caG>caA	p.Q213Q	NFIX_ENST00000585575.1_Silent_p.Q205Q|NFIX_ENST00000397661.2_Silent_p.Q213Q|NFIX_ENST00000587760.1_Silent_p.Q205Q|NFIX_ENST00000360105.4_Silent_p.Q216Q|NFIX_ENST00000587260.1_Silent_p.Q212Q|NFIX_ENST00000588228.1_Silent_p.Q166Q|NFIX_ENST00000588680.1_3'UTR|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000358552.3_Silent_p.Q212Q			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	213					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGTTTCCAGGACTGTTTTG	0.522																																						uc010xmx.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(661-663)caG>caA		Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.							135	128	130					19																	13184252		1928	4141	6069	SO:0001819	synonymous_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184252G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.639G>A	19.37:g.13184252G>A						NFIX_uc002mwd.3_Silent_p.Q213Q|NFIX_uc002mwe.3_Silent_p.Q205Q|NFIX_uc002mwf.3_Silent_p.Q216Q|NFIX_uc002mwg.2_Silent_p.Q212Q	p.Q221Q			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		3	716	+			213					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37	c.663G>A																																																																																					0.522	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		A	13184252	G	A	13184252	2	1	42	1	0	0	0	0	0	0	0	1	10374	991	35	3		3	NFIX	19	13184252	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		13184252	45944731	81	2661											
CYP4F3	4051	broad.mit.edu	37	chr19	15758051	15758051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaagtggagccgccacCgtcggatgctgacgcctgcc	8	6	14	13	4	0	2	0	2	0	0	1	4	0	4	5	2	3	1	5	2	2	0	rs149124841	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:15758051C>T	ENST00000221307.8	+	5	489	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CYP4F3_ENST00000586182.2_Missense_Mutation_p.R148C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R148C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R148C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	148					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCCGCCACCGTCGGATGCT	0.567																																						uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(442-444)Cgt>Tgt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405		0,1,2202	72	75	74		442,442,442	2.3	0.9	19	dbSNP_134	74	9,8591		0,9,4291	no	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	180,180,180	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	probably-damaging,probably-damaging,probably-damaging	148/521,148/521,148/521	15758051	10,12996	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15758051C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.442C>T	19.37:g.15758051C>T	ENSP00000221307:p.Arg148Cys					CYP4F3_uc010xol.2_Missense_Mutation_p.R148C|CYP4F3_uc002nbj.3_Missense_Mutation_p.R148C|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R148C|CYP4F3_uc010xon.2_5'Flank	p.R148C	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			4	492	+			148					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.442C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	16.98	3.270621	0.59540	2.27E-4	0.001047	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.92911	-3.13	3.4	2.3	0.28687	.	0.082868	0.47852	U	0.000210	D	0.97192	0.9082	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95966	0.8966	10	0.87932	D	0	.	9.2176	0.37358	0.2184:0.7816:0.0:0.0	.	148;148	B7Z8Z3;Q08477	.;CP4F3_HUMAN	C	75;148	ENSP00000221307:R148C	ENSP00000221307:R148C	R	+	1	0	CYP4F3	15619051	1.000000	0.71417	0.889000	0.34880	0.976000	0.68499	2.970000	0.49240	0.561000	0.29186	0.436000	0.28706	CGT		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		T	15758051	C	T	15758051	3	4	42	1	0	0	0	0	1	0	0	0	4190	652	23	2	456	2	CYP4F3	19	15758051	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	2573799	15758051	43370932	82	2662											
MYO9B	4650	broad.mit.edu	37	chr19	17309077	17309077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcgacgcatcctccctcCcagacgcagggctgtccccg	6	5	11	19	4	0	1	0	0	0	1	4	2	4	1	5	2	0	3	5	2	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:17309077C>T	ENST00000594824.1	+	24	4345	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S	MYO9B_ENST00000397274.2_Missense_Mutation_p.P1400S|MYO9B_ENST00000595618.1_Missense_Mutation_p.P1400S			Q13459	MYO9B_HUMAN	myosin IXB	1400	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATCCTCCCTCCCAGACGCAGG	0.622																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4198-4200)Cca>Tca		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							62	75	71					19																	17309077		2008	4166	6174	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17309077C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4198C>T	19.37:g.17309077C>T	ENSP00000471367:p.Pro1400Ser					MYO9B_uc002nfi.3_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	p.P1400S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			23	4350	+			1400			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4198C>T		.	.	.	.	.	.	.	.	.	.	C	5.854	0.341772	0.11069	.	.	ENSG00000099331	ENST00000397274	D	0.83591	-1.74	4.74	-6.35	0.01975	.	1.076460	0.07285	N	0.871412	T	0.64023	0.2561	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.47509	-0.9112	10	0.21540	T	0.41	.	4.0971	0.09996	0.2378:0.2595:0.4135:0.0892	.	1400;1400;1406	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1400	ENSP00000380444:P1400S	ENSP00000380444:P1400S	P	+	1	0	MYO9B	17170077	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.790000	0.04604	-0.924000	0.03780	0.491000	0.48974	CCA		0.622	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17309077	C	T	17309077	3	4	42	1	0	0	0	0	1	0	0	0	10085	623	22	3	4288	3	MYO9B	19	17309077	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1551026	17309077	41819906	83	2663											
ZNF492	57615	broad.mit.edu	37	chr19	22847727	22847727	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataattcatactggagagaAaccctacaaatgtgaagaat	18	9	8	6	0	1	3	1	1	0	2	1	6	1	4	1	1	3	0	1	1	7	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22847727A>C	ENST00000456783.2	+	4	1500	c.1256A>C	c.(1255-1257)aAa>aCa	p.K419T	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTGGAGAGAAACCCTACAAA	0.368																																						uc002nqw.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1255-1257)aAa>aCa		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.							33	35	34					19																	22847727		2095	4232	6327	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847727A>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1256A>C	19.37:g.22847727A>C	ENSP00000413660:p.Lys419Thr						p.K419T	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	1500	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	419					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1256A>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.678305	0.29783	.	.	ENSG00000229676	ENST00000456783	T	0.24908	1.83	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46229	0.1382	M	0.78637	2.42	0.27220	N	0.959697	D	0.89917	1.0	D	0.97110	1.0	T	0.24584	-1.0156	9	0.72032	D	0.01	.	5.8144	0.18484	1.0:0.0:0.0:0.0	.	419	Q9P255	ZN492_HUMAN	T	419	ENSP00000413660:K419T	ENSP00000413660:K419T	K	+	2	0	ZNF492	22639567	0.028000	0.19301	0.094000	0.20943	0.094000	0.18550	-0.255000	0.08769	0.231000	0.21079	0.228000	0.17796	AAA		0.368	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		C	22847727	A	C	22847727	3	2	42	1	0	0	0	0	1	0	0	0	17940	14	1	5	1266	5	ZNF492	19	22847727	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	5538650	22847727	36281256	84	2664											
ZNF99	7652	broad.mit.edu	37	chr19	22941405	22941405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctaagggctgagaaacGcttaaaagctttgccacatt	12	13	8	8	1	1	1	0	1	1	1	1	2	1	1	1	1	3	3	1	1	4	6	rs180729554		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22941405G>A	ENST00000596209.1	-	4	1396	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	ZNF99_ENST00000397104.3_Missense_Mutation_p.R345C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAACGCTTAAAAGCT	0.373													T|||	1	0.000199681	0	0	5008	,	,		20122	0.001		0	False		,,,				2504	0					uc021urt.1																			0		p.H436Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1306-1308)Cgt>Tgt		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.		G	CYS/ARG	2,4078		0,2,2038	56	58	57		1033	-2.5	0	19		57	1,8435		0,1,4217	no	missense	ZNF99	NM_001080409.2	180	0,3,6255	AA,AG,GG		0.0119,0.049,0.024	probably-damaging	345/912	22941405	3,12513	2040	4218	6258	SO:0001583	missense	7652							g.chr19:22941405G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1306C>T	19.37:g.22941405G>A	ENSP00000472969:p.Arg436Cys						p.R436C	NM_001080409	NP_001073878					3	1461	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1306C>T	CCDS59369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	11.65	1.700953	0.30142	4.9E-4	1.19E-4	ENSG00000213973	ENST00000397104	T	0.36340	1.26	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36413	0.0966	L	0.61387	1.9	0.09310	N	1	D	0.62365	0.991	P	0.49421	0.61	T	0.23940	-1.0174	9	0.40728	T	0.16	.	5.3028	0.15788	0.6711:0.0:0.3289:0.0	.	345	A8MXY4	ZNF99_HUMAN	C	345	ENSP00000380293:R345C	ENSP00000380293:R345C	R	-	1	0	ZNF99	22733245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.253000	0.00074	-0.767000	0.04633	-0.512000	0.04463	CGT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		A	22941405	G	A	22941405	3	1	42	1	0	0	0	0	1	0	0	0	18201	1087	38	1	2091	1	ZNF99	19	22941405	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	93678	22941405	36187578	85	2665											
TEAD2	8463	broad.mit.edu	37	chr19	49852054	49852054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctgccaggctgggggcGatggggtaggtgggggcagg	5	5	24	7	1	0	0	0	0	0	0	0	2	0	0	2	9	2	3	2	9	1	1	rs201482323		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:49852054G>A	ENST00000311227.2	-	8	731	c.641C>T	c.(640-642)tCg>tTg	p.S214L	TEAD2_ENST00000539846.1_Missense_Mutation_p.S86L|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000598810.1_Missense_Mutation_p.S218L|TEAD2_ENST00000593945.1_Missense_Mutation_p.S218L|TEAD2_ENST00000601519.1_Missense_Mutation_p.S217L|TEAD2_ENST00000377214.4_Missense_Mutation_p.S217L	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	214	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572																																						uc002pnh.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(652-654)tCg>tTg		Homo sapiens TEA domain family member 2 (TEAD2), mRNA.		G	LEU/SER	1,4363		0,1,2181	16	19	18		641	5.7	1	19		18	1,8521		0,1,4260	yes	missense	TEAD2	NM_003598.1	145	0,2,6441	AA,AG,GG		0.0117,0.0229,0.0155	possibly-damaging	214/448	49852054	2,12884	2182	4261	6443	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49852054G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.641C>T	19.37:g.49852054G>A	ENSP00000310701:p.Ser214Leu					TEAD2_uc002png.3_Missense_Mutation_p.S217L|TEAD2_uc002pni.3_Missense_Mutation_p.S217L|TEAD2_uc002pnj.3_Missense_Mutation_p.S214L|TEAD2_uc010yao.2_Missense_Mutation_p.S86L|TEAD2_uc010emw.3_Missense_Mutation_p.S217L	p.S218L	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	759	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	214			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.653C>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407897	0.42715	2.29E-4	1.17E-4	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.27557	1.66;1.66;1.66	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000035	T	0.16514	0.0397	N	0.16368	0.405	0.46701	D	0.999168	P;B;P	0.47604	0.898;0.126;0.898	B;B;B	0.31946	0.138;0.054;0.138	T	0.03148	-1.1067	10	0.51188	T	0.08	-13.5768	13.379	0.60757	0.0:0.1578:0.8422:0.0	.	86;214;217	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	L	214;217;86	ENSP00000310701:S214L;ENSP00000366419:S217L;ENSP00000437928:S86L	ENSP00000310701:S214L	S	-	2	0	TEAD2	54543866	0.800000	0.28916	0.977000	0.42913	0.472000	0.32918	3.816000	0.55658	2.882000	0.98803	0.655000	0.94253	TCG		0.572	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		A	49852054	G	A	49852054	3	1	42	1	0	0	0	0	1	0	0	0	15736	1059	37	2	722	2	TEAD2	19	49852054	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	26910649	49852054	9276929	86	2666											
SHANK1	50944	broad.mit.edu	37	chr19	51205802	51205802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagccatgaaggagcGtccgggtaccgctgagtaga	10	7	13	11	3	1	3	1	2	0	1	2	4	2	4	3	2	3	3	3	2	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:51205802G>A	ENST00000293441.1	-	11	1687	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	SHANK1_ENST00000359082.3_Missense_Mutation_p.R557C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R557C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	557	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGAAGGAGCGTCCGGGTACC	0.701																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1669-1671)Cgc>Tgc		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							52	40	44					19																	51205802		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205802G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1669C>T	19.37:g.51205802G>A	ENSP00000293441:p.Arg557Cys						p.R557C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1688	-		all_neural(266;0.057)	557			SH3.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1669C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	16.83	3.231175	0.58777	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14391	2.51;2.51;2.51	3.55	3.55	0.40652	Src homology-3 domain (3);	0.000000	0.64402	U	0.000005	T	0.33673	0.0871	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.16247	-1.0409	10	0.87932	D	0	-18.4058	15.0802	0.72108	0.0:0.0:1.0:0.0	.	557	Q9Y566	SHAN1_HUMAN	C	557	ENSP00000293441:R557C;ENSP00000351984:R557C;ENSP00000375690:R557C	ENSP00000293441:R557C	R	-	1	0	SHANK1	55897614	1.000000	0.71417	0.993000	0.49108	0.873000	0.50193	3.548000	0.53670	2.286000	0.76751	0.555000	0.69702	CGC		0.701	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51205802	G	A	51205802	3	1	42	1	0	0	0	0	1	0	0	0	14264	1145	40	1	4868	1	SHANK1	19	51205802	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	1353748	51205802	7923181	87	2667											
FOXS1	2307	broad.mit.edu	37	chr20	30432906	30432906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcactgcctgccggtcGtggcgttggggactcctggg	4	9	17	11	3	0	1	0	1	0	0	2	2	1	2	3	5	3	2	3	5	0	1	rs377408084	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:30432906G>A	ENST00000375978.3	-	1	514	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	147					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGCCGGTCGTGGCGTTGGG	0.687													G|||	2	0.000399361	0	0	5008	,	,		13636	0		0	False		,,,				2504	0.002					uc002wwt.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(439-441)aCg>aTg		Homo sapiens forkhead box S1 (FOXS1), mRNA.		G	MET/THR	0,4404		0,0,2202	17	17	17		440	-0.1	0	20		17	1,8597		0,1,4298	no	missense	FOXS1	NM_004118.3	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	147/331	30432906	1,13001	2202	4299	6501	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432906G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.440C>T	20.37:g.30432906G>A	ENSP00000365145:p.Thr147Met						p.T147M	NM_004118	NP_004109	O43638	FOXS1_HUMAN			0	515	-			147					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.440C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	3.064	-0.192572	0.06259	0.0	1.16E-4	ENSG00000179772	ENST00000375978	D	0.92965	-3.14	4.47	-0.118	0.13547	.	1.038680	0.07708	N	0.941483	D	0.84238	0.5428	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.71543	-0.4561	10	0.48119	T	0.1	.	5.399	0.16284	0.2485:0.2735:0.478:0.0	.	147	O43638	FOXS1_HUMAN	M	147	ENSP00000365145:T147M	ENSP00000365145:T147M	T	-	2	0	FOXS1	29896567	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.046000	0.14035	0.146000	0.19002	0.455000	0.32223	ACG		0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		A	30432906	G	A	30432906	3	1	42	1	0	0	0	0	1	0	0	0	6035	1145	40	1	556	1	FOXS1	20	30432906	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		30432906	32592614	88	2668											
PLCG1	5335	broad.mit.edu	37	chr20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcttcgtggtgtatGaggaagacatgtttagtgac	8	14	13	6	2	1	3	0	2	1	1	2	4	1	4	0	2	1	3	0	2	3	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:39802384G>A	ENST00000373271.1	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Missense_Mutation_p.E1163K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3487-3489)Gag>Aag		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							130	113	118					20																	39802384		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802384G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3487G>A	20.37:g.39802384G>A	ENSP00000362368:p.Glu1163Lys		OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	p.E1163K	NM_182811	NP_877963	P19174	PLCG1_HUMAN			28	3608	+		Myeloproliferative disorder(115;0.00878)	1163			C2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3487G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494412	0.96339	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.69685	-0.42;-0.42;-0.42	5.51	5.51	0.81932	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.84082	2.675	0.80722	D	1	P;D;D	0.57257	0.946;0.979;0.957	P;P;P	0.62298	0.839;0.9;0.9	D	0.84894	0.0838	10	0.72032	D	0.01	.	19.4219	0.94725	0.0:0.0:1.0:0.0	.	1163;1163;1163	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	K	1163	ENSP00000244007:E1163K;ENSP00000362368:E1163K;ENSP00000362369:E1163K	ENSP00000244007:E1163K	E	+	1	0	PLCG1	39235798	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.858000	0.99539	2.593000	0.87608	0.455000	0.32223	GAG		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39802384	G	A	39802384	3	1	42	1	0	0	0	0	1	0	0	0	12035	1291	45	3	3601	3	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	9369478	39802384	23223136	89	2669											
SEMG1	6406	broad.mit.edu	37	chr20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaatgccctacataagaCgacaaaatcacaacgacatc	17	8	5	11	2	1	2	1	1	0	1	2	4	1	2	1	0	3	0	1	0	6	3	rs199781597		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	93	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	154	134	141		278	-0.2	0	20		141	0,8600		0,0,4300	yes	missense	SEMG1	NM_003007.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		93/463	43836216	2,13004	2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836216C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.278C>T	20.37:g.43836216C>T	ENSP00000361867:p.Thr93Met					SEMG2_uc002xni.2_Missense_Mutation_p.T93M|SEMG2_uc002xnj.2_Missense_Mutation_p.T93M		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766462	0.02974	4.54E-4	0.0	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08984	3.03;3.03	1.07	-0.159	0.13379	.	.	.	.	.	T	0.12860	0.0312	L	0.36672	1.1	0.09310	N	1	B;D;P	0.89917	0.421;1.0;0.537	B;D;B	0.73708	0.05;0.981;0.113	T	0.25363	-1.0134	9	0.26408	T	0.33	.	2.9559	0.05876	0.0:0.3585:0.0:0.6415	.	93;93;93	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	M	93	ENSP00000244069:T93M;ENSP00000361867:T93M	ENSP00000244069:T93M	T	+	2	0	SEMG1	43269630	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.915000	0.04033	-0.080000	0.12685	-0.484000	0.04775	ACG		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		T	43836216	C	T	43836216	3	4	42	1	0	0	0	0	1	0	0	0	14044	536	19	1	284	1	SEMG1	20	43836216	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	4033832	43836216	19189304	90	2670											
COL6A2	1292	broad.mit.edu	37	chr21	47539015	47539015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcgggcctgggccccgCggacccaaaggcgagccggt	7	2	18	14	5	0	0	0	0	0	0	0	2	0	1	5	6	1	0	5	6	2	0	rs61735827	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr21:47539015C>T	ENST00000300527.4	+	14	1355	c.1251C>T	c.(1249-1251)cgC>cgT	p.R417R	COL6A2_ENST00000409416.1_Silent_p.R417R|COL6A2_ENST00000397763.1_Silent_p.R417R|COL6A2_ENST00000357838.4_Silent_p.R417R|COL6A2_ENST00000310645.5_Silent_p.R417R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	417	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R417R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662																																						uc002zia.1																			1	Substitution - coding silent(1)	p.R417R(2)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1249-1251)cgC>cgT		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		C	,,	1,4387	2.1+/-5.4	0,1,2193	27	26	26		1251,1251,1251	-9.1	0	21	dbSNP_129	26	18,8572	11.2+/-40.8	0,18,4277	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,19,6470	TT,TC,CC		0.2095,0.0228,0.1464	,,	417/1020,417/919,417/829	47539015	19,12959	2194	4295	6489	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47539015C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1251C>T	21.37:g.47539015C>T						COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zhy.1_Silent_p.R417R	p.R417R	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	13	1333	+	Breast(49;0.245)		417			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.1251C>T	CCDS13728.1																																																																																				0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47539015	C	T	47539015	2	4	42	1	0	0	0	0	0	0	0	1	3700	755	27	1		1	COL6A2	21	47539015	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08		47539015	590880	91	2671											
BCOR	54880	broad.mit.edu	37	chrX	39931847	39931847	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtttgggatcctcttGggttttaccaaaagttacag	11	14	10	6	0	1	0	0	0	1	0	2	1	2	1	2	3	2	3	2	3	5	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:39931847G>A	ENST00000378444.4	-	4	2980	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q918*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q918*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.Q918*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	918					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGATCCTCTTGGGTTTTACCA	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2752-2754)Caa>Taa		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							69	61	63					X																	39931847		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39931847G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2752C>T	X.37:g.39931847G>A	ENSP00000367705:p.Gln918*					BCOR_uc004dep.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.4_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.4_Nonsense_Mutation_p.Q918*	p.Q918*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	3044	-			918					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.2752C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	41	9.131115	0.99075	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.61	19.2835	0.94061	0.0:0.0:1.0:0.0	.	.	.	.	X	918;918;918;918;918;325	.	ENSP00000345923:Q918X	Q	-	1	0	BCOR	39816791	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.026000	0.64103	2.506000	0.84524	0.600000	0.82982	CAA		0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39931847	G	A	39931847	4	1	42	1	0	0	0	0	0	1	0	0	1386	1357	47	3	2563	3	BCOR	23	39931847	Nonsense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		39931847	115338713	92	2672											
DGKK	139189	broad.mit.edu	37	chrX	50114831	50114831	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcatcctcagcacttctCagctggtacagacaggaaaa	12	9	8	12	0	3	1	3	0	2	1	6	2	4	2	1	2	3	3	1	2	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:50114831C>T	ENST00000376025.2	-	0	3562							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGCACTTCTCAGCTGGTACA	0.468																																						uc010njr.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3481-3483)ctG>ctA		Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.							96	85	89					X																	50114831		1988	4158	6146			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50114831C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50114831C>T							p.L1161L	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			26	3527	-	Ovarian(276;0.236)		1168					B2RP91	Silent	SNP	ENST00000376025.2	37	c.3483G>A																																																																																					0.468	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		T	50114831	C	T	50114831	1	4	42	0	1	0	0	0	0	0	0	0	4472	813	29	3		3	DGKK	23	50114831	RNA	SNP	C	TCGA-06-0195-01B-01D-1491-08	10182984	50114831	105155729	93	2673											
GLUD2	2747	broad.mit.edu	37	chrX	120183088	120183088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatacacaatggagcgttCtgccaggcaaattatgcaca	13	8	10	10	1	1	0	0	0	1	0	1	1	1	1	1	3	4	4	1	3	4	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:120183088C>A	ENST00000328078.1	+	1	1627	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	517					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATGGAGCGTTCTGCCAGGCAA	0.463																																						uc004eto.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1549-1551)tCt>tAt		Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						159	121	134					X																	120183088		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183088C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1550C>A	X.37:g.120183088C>A	ENSP00000327589:p.Ser517Tyr						p.S517Y	NM_012084	NP_036216	P49448	DHE4_HUMAN			0	1627	+			517					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1550C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164399	0.38217	.	.	ENSG00000182890	ENST00000328078	D	0.96459	-4.02	1.46	1.46	0.22682	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.97056	0.9767	10	0.87932	D	0	-1.9536	8.5343	0.33353	0.0:1.0:0.0:0.0	.	517	P49448	DHE4_HUMAN	Y	517	ENSP00000327589:S517Y	ENSP00000327589:S517Y	S	+	2	0	GLUD2	120010769	1.000000	0.71417	0.039000	0.18376	0.084000	0.17831	3.753000	0.55180	1.060000	0.40578	0.182000	0.17080	TCT		0.463	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		A	120183088	C	A	120183088	3	1	42	1	0	0	0	0	1	0	0	0	6477	913	32	5	1552	5	GLUD2	23	120183088	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	70068257	120183088	35087472	94	2674											
KIAA0467	23334	broad.mit.edu	37	chr1	43906999	43906999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaccgagagtgttcggactCctggtggagctgagcgggcg	8	7	17	9	4	0	2	0	1	0	1	2	5	1	4	2	4	3	2	2	4	1	1	rs150927632	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:43906999C>T	ENST00000562955.1	+	52	7288	c.7288C>T	c.(7288-7290)Cct>Tct	p.P2430S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1588S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2487					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGTTCGGACTCCTGGTGGAGC	0.582																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4762-4764)Cct>Tct		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							70	75	73					1																	43906999		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906999C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7288C>T	1.37:g.43906999C>T	ENSP00000457168:p.Pro2430Ser						p.P1588S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			51	7372	+			2487					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4762C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755940	0.49362	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	4.44	0.53790	.	0.243292	0.42548	D	0.000695	T	0.27063	0.0663	N	0.14661	0.345	0.22017	N	0.99941	B	0.20988	0.05	B	0.17722	0.019	T	0.11690	-1.0577	9	0.32370	T	0.25	.	14.6799	0.69009	0.0:0.7856:0.2144:0.0	.	2430	Q5T011-5	.	S	1588	.	ENSP00000361519:P1588S	P	+	1	0	SZT2	43679586	0.725000	0.28048	0.983000	0.44433	0.922000	0.55478	1.149000	0.31626	2.708000	0.92522	0.591000	0.81541	CCT		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43906999	C	T	43906999	3	4	43	1	0	0	0	0	1	0	0	0	8178	855	30	3	4904	3	KIAA0467	1	43906999	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		43906999	205343622	1	2675											
CYP4A11	1579	broad.mit.edu	37	chr1	47400170	47400170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatccaaatgcctcttcctCttgatcttctccagctcccc	8	13	3	17	0	4	1	0	1	4	0	8	1	7	1	6	0	2	1	6	0	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:47400170C>G	ENST00000310638.4	-	7	883	c.852G>C	c.(850-852)aaG>aaC	p.K284N	CYP4A11_ENST00000457840.2_Missense_Mutation_p.E129Q|CYP4A11_ENST00000462347.1_Missense_Mutation_p.E233Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.K285N|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.K284N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	284					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCTCTTCCTCTTGATCTTCT	0.498																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(850-852)aaG>aaC		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						136	129	131					1																	47400170		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47400170C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.852G>C	1.37:g.47400170C>G	ENSP00000311095:p.Lys284Asn					CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N|CYP4A11_uc010omm.1_Non-coding_Transcript	p.K284N	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			6	903	-			284					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.852G>C	CCDS543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	5.999|5.999	0.368193|0.368193	0.11352|0.11352	.|.	.|.	ENSG00000187048|ENSG00000187048	ENST00000457840|ENST00000310638;ENST00000371904;ENST00000371905	T|T;T;T	0.28255|0.68331	1.62|-0.32;-0.32;-0.32	5.23|5.23	2.29|2.29	0.28610|0.28610	.|.	.|0.468479	.|0.22978	.|N	.|0.053358	T|T	0.49167|0.49167	0.1541|0.1541	N|N	0.12422|0.12422	0.21|0.21	0.09310|0.09310	N|N	1|1	.|B	.|0.27951	.|0.195	.|B	.|0.35182	.|0.197	T|T	0.49753|0.49753	-0.8906|-0.8906	7|10	0.27785|0.66056	T|D	0.31|0.02	.|.	9.1526|9.1526	0.36973|0.36973	0.0:0.7036:0.0:0.2964|0.0:0.7036:0.0:0.2964	.|.	.|284	.|Q02928	.|CP4AB_HUMAN	Q|N	129|284;285;284	ENSP00000406272:E129Q|ENSP00000311095:K284N;ENSP00000360971:K285N;ENSP00000360972:K284N	ENSP00000406272:E129Q|ENSP00000311095:K284N	E|K	-|-	1|3	0|2	CYP4A11|CYP4A11	47172757|47172757	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.003000|0.003000	0.03518|0.03518	-0.316000|-0.316000	0.08071|0.08071	0.695000|0.695000	0.31675|0.31675	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.498	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		G	47400170	C	G	47400170	3	3	43	1	0	0	0	0	1	0	0	0	4183	912	32	5	731	5	CYP4A11	1	47400170	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	3493171	47400170	201850451	2	2676											
C1orf175	374977	broad.mit.edu	37	chr1	55136211	55136211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattctctctcaagctcCgtccgcaagcaggccatgga	8	9	10	14	2	2	0	1	0	2	0	6	2	4	2	3	3	2	3	3	3	2	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:55136211C>T	ENST00000421030.2	+	6	1716	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	MROH7_ENST00000395690.2_Silent_p.S477S|MROH7-TTC4_ENST00000414150.2_Silent_p.S477S|MROH7_ENST00000339553.5_Silent_p.S477S|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Silent_p.S45S|MROH7_ENST00000409996.1_Silent_p.S45S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	477						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCTCAAGCTCCGTCCGCAAGC	0.637																																						uc010ooe.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1429-1431)tcC>tcT		Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.							40	46	44					1																	55136211		2049	4173	6222	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55136211C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1431C>T	1.37:g.55136211C>T						HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.S45S|HEATR8_uc010ood.1_5'UTR|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.S477S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript	p.S477S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			5	1755	+			477					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1431C>T	CCDS41342.2																																																																																				0.637	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		T	55136211	C	T	55136211	2	4	43	1	0	0	0	0	0	0	0	1	2016	639	23	2		2	C1orf175	1	55136211	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	7736041	55136211	194114410	3	2677											
CSDE1	7812	broad.mit.edu	37	chr1	115269683	115269683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttcaccccacagtcaTcataagcaataatgccatcc	13	10	4	14	0	4	0	4	0	0	0	5	0	5	0	4	0	2	2	4	0	3	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:115269683T>C	ENST00000358528.4	-	13	1811	c.1385A>G	c.(1384-1386)gAt>gGt	p.D462G	Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Missense_Mutation_p.D332G|CSDE1_ENST00000339438.6_Missense_Mutation_p.D431G|CSDE1_ENST00000261443.5_Missense_Mutation_p.D431G|CSDE1_ENST00000534699.1_Missense_Mutation_p.D462G|CSDE1_ENST00000369530.1_Missense_Mutation_p.D477G|CSDE1_ENST00000438362.2_Missense_Mutation_p.D508G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	462	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACAGTCATCATAAGCAAT	0.373																																						uc001efi.3																			0		p.R508*(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1522-1524)gAt>gGt		Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.							144	125	131					1																	115269683		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115269683T>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1385A>G	1.37:g.115269683T>C	ENSP00000351329:p.Asp462Gly					CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.D462G|CSDE1_uc001efm.3_Missense_Mutation_p.D477G|CSDE1_uc009wgv.3_Missense_Mutation_p.D462G|CSDE1_uc001efl.3_Missense_Mutation_p.D431G|CSDE1_uc001efn.3_Missense_Mutation_p.D431G	p.D508G	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2045	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	462					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1523A>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395395	0.62066	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.75	5.75	0.90469	.	0.104733	0.64402	D	0.000003	T	0.58366	0.2117	L	0.38531	1.155	0.80722	D	1	P;B;D	0.67145	0.732;0.155;0.996	B;B;D	0.76071	0.286;0.029;0.987	T	0.57189	-0.7854	9	0.30854	T	0.27	-18.698	16.0487	0.80740	0.0:0.0:0.0:1.0	.	477;462;508	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	G	431;508;462;431;332;477;462	.	ENSP00000261443:D431G	D	-	2	0	CSDE1	115071206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.189000	0.69895	0.533000	0.62120	GAT		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		C	115269683	T	C	115269683	3	2	43	1	0	0	0	0	1	0	0	0	3929	1435	50	4	1043	4	CSDE1	1	115269683	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	60133472	115269683	133980938	4	2678											
TCHH	7062	broad.mit.edu	37	chr1	152084091	152084091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgtcttagttgttgctcGctcctcaaccgctgctggag	4	13	11	13	4	2	0	1	0	1	0	5	1	3	1	2	1	3	6	2	1	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:152084091G>A	ENST00000368804.1	-	2	1601	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	534	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTTGCTCGCTCCTCAACC	0.652																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1600-1602)agC>agT		Homo sapiens trichohyalin (TCHH), mRNA.							80	88	85					1																	152084091		2046	4183	6229	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084091G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1602C>T	1.37:g.152084091G>A						TCHH_uc001ezp.2_Silent_p.S534S	p.S534S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1874	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		534			9 X 28 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.1602C>T	CCDS41396.1																																																																																				0.652	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		A	152084091	G	A	152084091	2	1	43	1	0	0	0	0	0	0	0	1	15697	1078	38	1		1	TCHH	1	152084091	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	36814408	152084091	97166530	5	2679											
OR10Z1	128368	broad.mit.edu	37	chr1	158577031	158577032	+	Frame_Shift_Del	DEL	TT	TT	-																															gcccaaagccagctactctcTtgagagagatcagcttattg																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:158577031_158577032delTT	ENST00000361284.1	+	1	803_804	c.803_804delTT	c.(802-804)cttfs	p.L268fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTACTCTCTTGAGAGAGATC	0.47																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(802-804)cttfs		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.				0,4258		0,0,2129						4.1	0.8			230	5,8245		0,5,4120	no	frameshift	OR10Z1	NM_001004478.1		0,5,6249	A1A1,A1R,RR		0.0606,0.0,0.04				5,12503				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577031_158577032delTT	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.803_804delTT	1.37:g.158577031_158577032delTT	ENSP00000354707:p.Leu268fs						p.L268fs	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			0	803_804	+	all_hematologic(112;0.0378)		268					Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	c.803_804delTT	CCDS30901.1																																																																																				0.47	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		-	158577032	TT	-	158577031	7	5	43	1	0	1	0	1	0	0	0	0	10923	1609	56	0	805	0	OR10Z1	1	158577031	Frame_Shift_Del	DEL	TT	TCGA-06-0209-01A-01D-1491-08	6492940	158577031	90673590	6	2680											
LGR6	59352	broad.mit.edu	37	chr1	202287327	202287327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggtcagttctctgagtaCggagcccgctgggagacggg	6	10	16	9	3	2	2	1	1	1	1	3	4	2	3	1	4	2	3	1	4	1	3	rs540125583		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:202287327C>T	ENST00000367278.3	+	18	1985	c.1896C>T	c.(1894-1896)taC>taT	p.Y632Y	LGR6_ENST00000439764.2_Silent_p.Y493Y|LGR6_ENST00000255432.7_Silent_p.Y580Y	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	632					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTGAGTACGGAGCCCGCT	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		17837	0		0	False		,,,				2504	0					uc001gxu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1894-1896)taC>taT		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.							34	29	31					1																	202287327		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287327C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1896C>T	1.37:g.202287327C>T						LGR6_uc001gxv.3_Silent_p.Y580Y|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Y493Y	p.Y632Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			17	1896	+			632					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1896C>T	CCDS30971.1																																																																																				0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		T	202287327	C	T	202287327	2	4	43	1	0	0	0	0	0	0	0	1	8758	547	19	1		1	LGR6	1	202287327	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	43710296	202287327	46963294	7	2681											
OR1C1	26188	broad.mit.edu	37	chr1	247921487	247921487	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggactgtagtcgaCgtaaagcagatgtcaacaaa	14	9	12	6	2	1	1	1	0	0	1	2	3	1	2	0	2	2	3	0	2	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:247921487C>T	ENST00000408896.2	-	1	495	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGTAGTCGACGTAAAGCAGA	0.463																																						uc010pza.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(220-222)acG>acA		Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.							73	69	70					1																	247921487		2055	4225	6280	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921487C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.222G>A	1.37:g.247921487C>T							p.T74T	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	222	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	74					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.222G>A	CCDS41481.1																																																																																				0.463	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			T	247921487	C	T	247921487	2	4	43	1	0	0	0	0	0	0	0	1	10952	523	19	1		1	OR1C1	1	247921487	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	45634160	247921487	1329134	8	2682											
APOB	338	broad.mit.edu	37	chr2	21255225	21255225	+	Splice_Site	DEL	C	C	-																															aaatacagtgtggaaactcaCttgttgaccgcgtggctcag																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:21255225delC	ENST00000233242.1	-	10	1480		c.e10+1		APOB_ENST00000399256.4_Splice_Site	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B						artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAACTCACTTGTTGACCG	0.537																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.e10+1		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						78	77	77					2																	21255225		2203	4300	6503	SO:0001630	splice_region_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21255225delC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1352+1G>-	2.37:g.21255225delC							p.N451_splice	NM_000384	NP_000375	P04114	APOB_HUMAN			10	1480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		451			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Splice_Site	DEL	ENST00000233242.1	37	c.1352_splice	CCDS1703.1																																																																																				0.537	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		Intron	-	21255225	C	-	21255225	8	5	43	1	0	1	0	1	0	0	1	0	785	579	20	0	12418	0	APOB	2	21255225	Splice_Site	DEL	C	TCGA-06-0209-01A-01D-1491-08		21255225	221944148	9	2683											
GLI2	2736	broad.mit.edu	37	chr2	121747197	121747197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaggcagccagtgtcctgGcatgactaccactatgagcc	9	7	12	13	0	0	2	0	2	0	0	1	2	1	2	4	3	3	3	4	3	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:121747197G>A	ENST00000452319.1	+	14	3767	c.3707G>A	c.(3706-3708)gGc>gAc	p.G1236D	GLI2_ENST00000361492.4_Missense_Mutation_p.G1236D|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGTCCTGGCATGACTACC	0.652																																						uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3706-3708)gGc>gAc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							27	26	26					2																	121747197		2200	4297	6497	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747197G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3707G>A	2.37:g.121747197G>A	ENSP00000390436:p.Gly1236Asp					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G908D|GLI2_uc002tmu.4_Missense_Mutation_p.G891D	p.G1236D	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	3737	+	Renal(3;0.0496)	Prostate(154;0.0623)	1236						Missense_Mutation	SNP	ENST00000452319.1	37	c.3707G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	1.138	-0.650448	0.03506	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.13657	2.57;2.57	4.57	-3.96	0.04106	.	0.555420	0.19447	N	0.114027	T	0.08935	0.0221	L	0.44542	1.39	0.09310	N	1	B;B	0.26809	0.099;0.16	B;B	0.28232	0.04;0.087	T	0.27331	-1.0077	9	.	.	.	.	6.5821	0.22600	0.4449:0.2168:0.3383:0.0	.	1236;891	P10070;P10070-2	GLI2_HUMAN;.	D	1236	ENSP00000390436:G1236D;ENSP00000354586:G1236D	.	G	+	2	0	GLI2	121463667	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.066000	0.03454	-0.698000	0.05085	-0.519000	0.04390	GGC		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		A	121747197	G	A	121747197	3	1	43	1	0	0	0	0	1	0	0	0	6438	1203	42	3	3757	3	GLI2	2	121747197	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	100491972	121747197	121452176	10	2684											
POTEF	728378	broad.mit.edu	37	chr2	130877687	130877687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcttctccacggacGtggtacctgggctccatgaa	8	10	10	13	2	2	2	0	1	2	1	5	3	4	3	4	3	1	2	4	3	2	2	rs200168896		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:130877687G>C	ENST00000409914.2	-	3	801	c.402C>G	c.(400-402)caC>caG	p.H134Q	POTEF_ENST00000360967.5_Missense_Mutation_p.H134Q|POTEF_ENST00000361163.4_Missense_Mutation_p.H134Q|POTEF_ENST00000357462.5_Missense_Mutation_p.H134Q	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	134					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCACGGACGTGGTACCTGG	0.592																																						uc010fmh.2																			0		p.H134D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(400-402)caC>caG		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							66	77	74					2																	130877687		2201	4299	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877687G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.402C>G	2.37:g.130877687G>C	ENSP00000386786:p.His134Gln						p.H134Q	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	802	-			134					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.402C>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	4.318	0.058320	0.08339	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	1.33	-1.4	0.08968	.	.	.	.	.	T	0.36054	0.0953	L	0.50333	1.59	0.09310	N	1	P	0.48350	0.909	B	0.41860	0.368	T	0.28364	-1.0046	9	0.87932	D	0	.	2.7241	0.05209	0.2211:0.3031:0.4758:0.0	.	134	A5A3E0	POTEF_HUMAN	Q	134	ENSP00000350052:H134Q;ENSP00000386786:H134Q;ENSP00000354232:H134Q;ENSP00000355012:H134Q	ENSP00000350052:H134Q	H	-	3	2	POTEF	130594157	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.219000	0.17641	-0.331000	0.08501	-1.597000	0.00832	CAC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		C	130877687	G	C	130877687	3	2	43	1	0	0	0	0	1	0	0	0	12265	1136	40	5	2885	5	POTEF	2	130877687	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	9130490	130877687	112321686	11	2685											
FAM123C	205147	broad.mit.edu	37	chr2	131522112	131522112	+	Frame_Shift_Del	DEL	G	G	-																															ctttgaacagccagcaggaaGggggggtctctgcaagtgcc																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:131522112delG	ENST00000423981.1	+	2	2577	c.2467delG	c.(2467-2469)gggfs	p.G824fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.G824fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	824					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.V825fs*16(1)									CCAGCAGGAAGGGGGGGTCTC	0.677																																						uc021voy.1																			1	Insertion - Frameshift(1)	p.V825fs*16(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(2467-2469)gggfs		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							9	11	10					2																	131522112		2187	4290	6477	SO:0001589	frameshift_variant	205147							g.chr2:131522112delG	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2467delG	2.37:g.131522112delG	ENSP00000392700:p.Gly824fs					FAM123C_uc002trw.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs	p.G823fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	2467	+	Colorectal(110;0.1)		823					B7ZLH6	Frame_Shift_Del	DEL	ENST00000423981.1	37	c.2467delG	CCDS2164.1																																																																																				0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		-	131522112	G	-	131522112	7	5	43	1	0	1	0	1	0	0	0	0	5424	1000	35	0	2469	0	FAM123C	2	131522112	Frame_Shift_Del	DEL	G	TCGA-06-0209-01A-01D-1491-08	644425	131522112	111677261	12	2686											
KCNJ3	3760	broad.mit.edu	37	chr2	155711294	155711294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagttctttggggtcaTcgtttttttcctgtaatttc	6	20	9	6	1	2	1	1	1	1	0	5	2	3	1	1	2	0	3	1	2	2	7			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:155711294T>C	ENST00000295101.2	+	3	1452	c.975T>C	c.(973-975)caT>caC	p.H325H	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	325					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTGGGGTCATCGTTTTTTTC	0.383																																						uc002tyv.1																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(973-975)caT>caC		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	Halothane(DB01159)						127	130	129					2																	155711294		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711294T>C	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.975T>C	2.37:g.155711294T>C						KCNJ3_uc010zce.1_3'UTR	p.H325H	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	1170	+			325					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.975T>C	CCDS2200.1																																																																																				0.383	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		C	155711294	T	C	155711294	2	2	43	1	0	0	0	0	0	0	0	1	8052	1432	50	4		4	KCNJ3	2	155711294	Silent	SNP	T	TCGA-06-0209-01A-01D-1491-08	24189182	155711294	87488079	13	2687											
UPP2	151531	broad.mit.edu	37	chr2	158971751	158971751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatactgtatgtacaaaaccGggcctgtgctcgccatcagt	10	10	10	11	2	1	0	1	0	0	0	2	1	1	0	3	1	4	3	3	1	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:158971751G>A	ENST00000005756.4	+	3	513	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	UPP2_ENST00000409859.4_Missense_Mutation_p.G164R|UPP2_ENST00000605860.1_Missense_Mutation_p.G164R|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	107					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GTACAAAACCGGGCCTGTGCT	0.438																																						uc002tzo.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(490-492)Ggg>Agg		Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.							97	97	97					2																	158971751		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971751G>A	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.319G>A	2.37:g.158971751G>A	ENSP00000005756:p.Gly107Arg					UPP2_uc002tzp.3_Missense_Mutation_p.G107R	p.G164R	NM_001135098	NP_775491	O95045	UPP2_HUMAN			4	510	+			107					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.490G>A	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568186	0.45798	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.86769	-2.17;-2.17	5.7	3.9	0.45041	Nucleoside phosphorylase domain (1);	0.053414	0.85682	N	0.000000	D	0.93910	0.8051	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93534	0.6872	10	0.87932	D	0	.	10.015	0.42010	0.0725:0.0:0.7899:0.1377	.	107	O95045	UPP2_HUMAN	R	164;107	ENSP00000387230:G164R;ENSP00000005756:G107R	ENSP00000005756:G107R	G	+	1	0	UPP2	158679997	1.000000	0.71417	0.041000	0.18516	0.017000	0.09413	4.780000	0.62382	0.758000	0.33059	-0.150000	0.13652	GGG		0.438	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		A	158971751	G	A	158971751	3	1	43	1	0	0	0	0	1	0	0	0	17010	1116	39	2	508	2	UPP2	2	158971751	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3260457	158971751	84227622	14	2688											
ITGB6	3694	broad.mit.edu	37	chr2	160964323	160964323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagggaaacccctaacAtgatcatgggaatgtttgga	13	9	11	8	0	1	1	1	1	0	0	1	4	1	4	3	3	3	1	3	3	4	3	rs367865998		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:160964323A>G	ENST00000283249.2	-	14	2372	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	ITGB6_ENST00000409872.1_Missense_Mutation_p.M712T|ITGB6_ENST00000428609.2_Missense_Mutation_p.M670T|ITGB6_ENST00000409967.2_Missense_Mutation_p.M605T	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	712					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACCCCTAACATGATCATGGG	0.403																																						uc002ubh.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2134-2136)aTg>aCg		Homo sapiens integrin, beta 6 (ITGB6), mRNA.		A	THR/MET	0,4406		0,0,2203	86	88	87		2135	5.8	1	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB6	NM_000888.3	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	712/789	160964323	1,13005	2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964323A>G		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2135T>C	2.37:g.160964323A>G	ENSP00000283249:p.Met712Thr					ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	p.M712T	NM_000888	NP_000879	P18564	ITB6_HUMAN			13	2150	-			712					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2135T>C	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628921	0.46944	0.0	1.16E-4	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.89939	-2.44;-2.45;-2.59;-2.44	5.79	5.79	0.91817	.	0.270585	0.47455	D	0.000221	D	0.86426	0.5930	L	0.54323	1.7	0.41466	D	0.988074	B;B	0.29716	0.255;0.255	B;B	0.21360	0.034;0.034	D	0.85688	0.1305	10	0.87932	D	0	.	16.1376	0.81497	1.0:0.0:0.0:0.0	.	670;712	E9PEE8;P18564	.;ITB6_HUMAN	T	712;670;605;712	ENSP00000283249:M712T;ENSP00000408024:M670T;ENSP00000386828:M605T;ENSP00000386367:M712T	ENSP00000283249:M712T	M	-	2	0	ITGB6	160672569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.857000	0.75455	2.212000	0.71576	0.533000	0.62120	ATG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		G	160964323	A	G	160964323	3	3	43	1	0	0	0	0	1	0	0	0	7899	217	8	4	239	4	ITGB6	2	160964323	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	1992572	160964323	82235050	15	2689											
TTN	7273	broad.mit.edu	37	chr2	179431071	179431071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattccttttcttaattcGgagtcaaggtcaagttcagg	11	14	8	8	1	4	0	3	0	1	0	6	1	5	1	1	3	0	1	1	3	4	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:179431071G>A	ENST00000591111.1	-	276	75089	c.74865C>T	c.(74863-74865)tcC>tcT	p.S24955S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.S17656S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.S17723S|TTN_ENST00000460472.2_Silent_p.S17531S|TTN_ENST00000589042.1_Silent_p.S26596S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.S24028S			Q8WZ42	TITIN_HUMAN	titin	24955	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTAATTCGGAGTCAAGGT	0.453																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72082-72084)tcC>tcT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							145	148	147					2																	179431071		2023	4194	6217	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431071G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74865C>T	2.37:g.179431071G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S17723S|TTN_uc021vta.1_Silent_p.S17656S|TTN_uc021vtb.1_Silent_p.S17531S	p.S24028S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	72309	-			24955			Fibronectin type-III 74.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.72084C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179431071	G	A	179431071	2	1	43	1	0	0	0	0	0	0	0	1	16732	1103	39	2		2	TTN	2	179431071	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	18466748	179431071	63768302	16	2690											
UGT1A1	54658	broad.mit.edu	37	chr2	234669059	234669059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcagccactggctgagCatgcttggggccatccagca	8	7	14	12	0	0	1	0	1	0	0	1	2	1	1	3	4	4	5	3	4	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669059C>T	ENST00000608383.1	+	1	126	c.126C>T	c.(124-126)agC>agT	p.S42S	UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.S42S|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.S42S|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	42					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	ACTGGCTGAGCATGCTTGGGG	0.577																																						uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30								Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						75	58	64					2																	234669059		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669059C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.126C>T	2.37:g.234669059C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.S42S|UGT1A1_uc002vvb.3_Silent_p.S42S		NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)			+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37		CCDS2510.1																																																																																				0.577	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				T	234669059	C	T	234669059	2	4	43	1	0	0	0	0	0	0	0	1	16941	709	25	3		3	UGT1A1	2	234669059	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	55237988	234669059	8530314	17	2691											
COL7A1	1294	broad.mit.edu	37	chr3	48629808	48629808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccgccatgtcacacGgtagccagtggcacctggca	9	5	13	14	2	1	0	1	0	0	0	1	2	1	1	4	4	1	3	4	4	1	1	rs146041612		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:48629808G>A	ENST00000328333.8	-	8	1176	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R357C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	357	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATGTCACACGGTAGCCAGTG	0.637																																						uc003ctz.2																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1069-1071)Cgt>Tgt		Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.		G	CYS/ARG	1,4405		0,1,2202	33	33	33		1069	3.5	1	3	dbSNP_134	33	0,8596		0,0,4298	no	missense	COL7A1	NM_000094.3	180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	357/2945	48629808	1,13001	2203	4298	6501	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629808G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1069C>T	3.37:g.48629808G>A	ENSP00000332371:p.Arg357Cys						p.R357C	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	7	1070	-			357			Fibronectin type-III 2.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1069C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069781	0.20147	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.59364	0.27;0.27	3.55	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42682	D	0.000673	T	0.73079	0.3541	M	0.74467	2.265	0.44323	D	0.997206	D	0.89917	1.0	D	0.75484	0.986	T	0.76691	-0.2866	10	0.66056	D	0.02	.	12.3713	0.55256	0.0:0.0:1.0:0.0	.	357	Q02388	CO7A1_HUMAN	C	357	ENSP00000332371:R357C;ENSP00000412569:R357C	ENSP00000332371:R357C	R	-	1	0	COL7A1	48604812	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.462000	0.60121	2.007000	0.58848	0.462000	0.41574	CGT		0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48629808	G	A	48629808	3	1	43	1	0	0	0	0	1	0	0	0	3704	1116	39	2	8209	2	COL7A1	3	48629808	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		48629808	149392622	18	2692											
IFT57	55081	broad.mit.edu	37	chr3	107938379	107938379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaagagtacaaaacatgtAgaactgttcgccagggttgg	14	8	12	7	1	0	2	0	0	0	2	1	2	0	2	1	2	4	5	1	2	6	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:107938379A>T	ENST00000264538.3	-	2	500	c.253T>A	c.(253-255)Tac>Aac	p.Y85N		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CAAAACATGTAGAACTGTTCG	0.408																																						uc021xcc.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(346-348)Tac>Aac		Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.							104	99	101					3																	107938379		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107938379A>T	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.253T>A	3.37:g.107938379A>T	ENSP00000264538:p.Tyr85Asn					IFT57_uc003dwx.4_Missense_Mutation_p.Y85N	p.Y116N	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		1	399	-			85					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.346T>A	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550906	0.86127	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.87	5.87	0.94306	.	0.054403	0.85682	D	0.000000	T	0.78559	0.4302	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.80379	-0.1407	9	0.62326	D	0.03	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	85	Q9NWB7	IFT57_HUMAN	N	85;116	.	ENSP00000264538:Y85N	Y	-	1	0	IFT57	109421069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.352000	0.79404	2.371000	0.80710	0.533000	0.62120	TAC		0.408	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		T	107938379	A	T	107938379	3	4	43	1	0	0	0	0	1	0	0	0	7562	420	15	5	1076	5	IFT57	3	107938379	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	59308571	107938379	90084051	19	2693											
COL6A6	131873	broad.mit.edu	37	chr3	130354555	130354555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatttagggtgagattgggGaccctggtggtccaggagag	8	10	18	5	0	0	2	0	1	0	2	1	5	1	3	2	6	0	1	2	6	2	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:130354555G>A	ENST00000358511.6	+	27	5072	c.5041G>A	c.(5041-5043)Gac>Aac	p.D1681N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1681N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1681	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGATTGGGGACCCTGGTGG	0.373																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5041-5043)Gac>Aac		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							78	79	79					3																	130354555		1847	4083	5930	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130354555G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5041G>A	3.37:g.130354555G>A	ENSP00000351310:p.Asp1681Asn					COL6A6_uc003eni.4_5'UTR	p.D1681N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			26	5072	+			1681			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.5041G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155323	0.57259	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90563	-2.69;-2.69	5.41	5.41	0.78517	.	.	.	.	.	D	0.91112	0.7202	N	0.20986	0.625	0.31055	N	0.714763	D	0.89917	1.0	D	0.80764	0.994	D	0.87922	0.2704	9	0.27785	T	0.31	.	14.6899	0.69076	0.0:0.0:1.0:0.0	.	1681	A6NMZ7	CO6A6_HUMAN	N	1681	ENSP00000351310:D1681N;ENSP00000399236:D1681N	ENSP00000351310:D1681N	D	+	1	0	COL6A6	131837245	0.999000	0.42202	1.000000	0.80357	0.853000	0.48598	3.345000	0.52182	2.531000	0.85337	0.655000	0.94253	GAC		0.373	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130354555	G	A	130354555	3	1	43	1	0	0	0	0	1	0	0	0	3703	1174	41	3	5147	3	COL6A6	3	130354555	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	22416176	130354555	67667875	20	2694											
FRAS1	80144	broad.mit.edu	37	chr4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtcattatcaacgataccGaggatgaacccacattagag	15	8	9	9	2	2	2	2	1	0	1	2	5	2	3	2	2	3	0	2	2	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:79399128G>A	ENST00000264895.6	+	55	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2667	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8011-8013)Gag>Aag		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							93	91	91					4																	79399128		1910	4136	6046	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79399128G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8011G>A	4.37:g.79399128G>A	ENSP00000264895:p.Glu2671Lys						p.E2671K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			54	8451	+			2666			Calx-beta 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8011G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.224083|3.224083	0.58668|0.58668	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.27890|.	1.64|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82875|0.82875	0.5132|0.5132	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82778|0.82778	-0.0289|-0.0289	10|5	0.39692|.	T|.	0.17|.	.|.	20.181|20.181	0.98201|0.98201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2671|.	E9PHH6|.	.|.	K|Q	2671|899	ENSP00000264895:E2671K|.	ENSP00000264895:E2671K|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79618152|79618152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.034000|0.034000	0.12701|0.12701	9.165000|9.165000	0.94761|0.94761	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79399128	G	A	79399128	3	1	43	1	0	0	0	0	1	0	0	0	6042	1059	37	2	8304	2	FRAS1	4	79399128	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		79399128	111755148	21	2695											
NR3C2	4306	broad.mit.edu	37	chr4	149073647	149073647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactaggtctggtgcaaaaTagagaaattggctgttcgta	13	11	12	5	1	1	2	0	0	1	2	2	3	1	2	0	3	1	4	0	3	6	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:149073647T>C	ENST00000358102.3	-	6	2845	c.2483A>G	c.(2482-2484)tAt>tGt	p.Y828C	NR3C2_ENST00000512865.1_Missense_Mutation_p.Y711C|NR3C2_ENST00000511528.1_Missense_Mutation_p.Y832C|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y828C|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Missense_Mutation_p.Y832C|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	828	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGGTGCAAAATAGAGAAATTG	0.358																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2482-2484)tAt>tGt		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						123	124	123					4																	149073647		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149073647T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2483A>G	4.37:g.149073647T>C	ENSP00000350815:p.Tyr828Cys					NR3C2_uc003ilk.4_Missense_Mutation_p.Y711C|NR3C2_uc010iph.3_Intron	p.Y828C	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2846	-	all_hematologic(180;0.151)		828			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2483A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580187	0.65992	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64	5.76	5.76	0.90799	.	0.247643	0.42548	D	0.000698	D	0.96525	0.8866	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.977	D	0.96191	0.9138	9	.	.	.	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	711;828	B0ZBF5;B0ZBF6	.;.	C	828;832;828;711;832	ENSP00000341390:Y828C;ENSP00000347441:Y832C;ENSP00000350815:Y828C;ENSP00000423510:Y711C;ENSP00000421481:Y832C	.	Y	-	2	0	NR3C2	149293097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.191000	0.70037	0.533000	0.62120	TAT		0.358	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			C	149073647	T	C	149073647	3	2	43	1	0	0	0	0	1	0	0	0	10631	1406	49	4	487	4	NR3C2	4	149073647	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	69674519	149073647	42080629	22	2696											
ADAM29	11086	broad.mit.edu	37	chr4	175897719	175897719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatgaggatacatgtcGttgttcacaacctagatgca	12	11	9	9	1	1	3	1	2	0	1	2	4	1	4	2	1	3	3	2	1	3	4	rs201308805		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:175897719G>A	ENST00000359240.3	+	5	1713	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	ADAM29_ENST00000445694.1_Missense_Mutation_p.R348H|ADAM29_ENST00000514159.1_Missense_Mutation_p.R348H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.R348H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	348	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATACATGTCGTTGTTCACAA	0.373																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1042-1044)cGt>cAt		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	145	140	141		1043,1043,1043,1043	-7.2	0	4		141	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	29,29,29,29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	348/821,348/821,348/821,348/821	175897719	3,13003	2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897719G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1043G>A	4.37:g.175897719G>A	ENSP00000352177:p.Arg348His					ADAM29_uc003iud.3_Missense_Mutation_p.R348H|ADAM29_uc010irr.3_Missense_Mutation_p.R348H|ADAM29_uc011cki.2_Missense_Mutation_p.R348H|ADAM29_uc021xuo.1_Missense_Mutation_p.R348H	p.R348H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1713	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	348			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1043G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308218	0.23821	2.27E-4	2.33E-4	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	3.6	-7.2	0.01495	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	4.010880	0.01831	U	0.034703	T	0.10594	0.0259	N	0.13168	0.305	0.09310	N	1	D	0.71674	0.998	P	0.61592	0.891	T	0.34129	-0.9841	9	.	.	.	.	1.6479	0.02766	0.1398:0.387:0.177:0.2961	.	348	Q9UKF5	ADA29_HUMAN	H	348	ENSP00000352177:R348H;ENSP00000414544:R348H;ENSP00000384229:R348H;ENSP00000423517:R348H	.	R	+	2	0	ADAM29	176134294	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.801000	0.00761	-2.197000	0.00750	-0.496000	0.04628	CGT		0.373	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175897719	G	A	175897719	3	1	43	1	0	0	0	0	1	0	0	0	247	1145	40	1	1045	1	ADAM29	4	175897719	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	26824072	175897719	15256557	23	2697											
KIF3A	11127	broad.mit.edu	37	chr5	132038627	132038627	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcttttcctcctttCttccagttccatgttagatt	4	20	4	13	0	3	1	0	0	3	1	7	1	7	1	4	0	1	3	4	0	1	7			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:132038627C>A	ENST00000378746.4	-	11	1734	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	KIF3A_ENST00000378735.1_Nonsense_Mutation_p.E509*|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000403231.1_Nonsense_Mutation_p.E533*	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	506					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCCTTTCTTCCAGTTCC	0.408																																						uc011cxf.2																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1597-1599)Gaa>Taa		Homo sapiens kinesin family member 3A (KIF3A), mRNA.							220	219	219					5																	132038627		2203	4300	6503	SO:0001587	stop_gained	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132038627C>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1516G>T	5.37:g.132038627C>A	ENSP00000368020:p.Glu506*					KIF3A_uc003kxm.3_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.3_Nonsense_Mutation_p.E491*|KIF3A_uc003kxo.3_Nonsense_Mutation_p.E506*|KIF3A_uc003kxp.3_Nonsense_Mutation_p.E509*	p.E533*	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1751	-		all_cancers(142;0.0751)|Breast(839;0.198)	506					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Nonsense_Mutation	SNP	ENST00000378746.4	37	c.1597G>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	36	5.785410	0.96937	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	506;509;533;34;533	.	ENSP00000368009:E509X	E	-	1	0	KIF3A	132066526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.408	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		A	132038627	C	A	132038627	4	1	43	1	0	0	0	0	0	1	0	0	8300	922	32	5	611	5	KIF3A	5	132038627	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		132038627	48876633	24	2698											
SPOCK1	6695	broad.mit.edu	37	chr5	136324273	136324273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtcatagttcatgtccaActtgttgaacatccagccca	11	11	8	11	0	2	1	2	1	0	0	4	2	4	1	3	1	3	2	3	1	3	4	rs373166420		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:136324273A>G	ENST00000394945.1	-	8	935	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.L256L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	256					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGTCCAACTTGTTGAAC	0.498																																						uc003lbo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(766-768)Ttg>Ctg		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.		A		1,4405	2.1+/-5.4	0,1,2202	140	118	126		766	-1.7	0.9	5		126	0,8600		0,0,4300	no	coding-synonymous	SPOCK1	NM_004598.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		256/440	136324273	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324273A>G	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.766T>C	5.37:g.136324273A>G						SPOCK1_uc003lbp.3_Silent_p.L256L	p.L256L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	957	-			256					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.766T>C	CCDS4191.1																																																																																				0.498	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		G	136324273	A	G	136324273	2	3	43	1	0	0	0	0	0	0	0	1	15078	40	2	4		4	SPOCK1	5	136324273	Silent	SNP	A	TCGA-06-0209-01A-01D-1491-08	4285646	136324273	44590987	25	2699											
ETF1	2107	broad.mit.edu	37	chr5	137848498	137848498	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcagttttaaagtcagcGgatccagctaaaactagacc	14	10	8	9	1	2	1	2	0	0	1	3	2	3	2	2	1	3	3	2	1	5	5	rs145474099	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:137848498G>T	ENST00000360541.5	-	6	908	c.687C>A	c.(685-687)tcC>tcA	p.S229S	ETF1_ENST00000503014.1_Silent_p.S215S|ETF1_ENST00000499810.2_Silent_p.S196S	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	229					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAAAGTCAGCGGATCCAGCTA	0.403																																						uc003ldc.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(685-687)tcC>tcA		Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.							73	74	73					5																	137848498		2203	4300	6503	SO:0001819	synonymous_variant	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137848498G>T	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.687C>A	5.37:g.137848498G>T						ETF1_uc011cyv.2_Silent_p.S215S|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	p.S229S	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	852	-			229					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	c.687C>A	CCDS4207.1																																																																																				0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		T	137848498	G	T	137848498	2	4	43	1	0	0	0	0	0	0	0	1	5268	1103	39	5		5	ETF1	5	137848498	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	1524225	137848498	43066762	26	2700											
PCDHA2	56146	broad.mit.edu	37	chr5	140176802	140176802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagctggtcttactcGcagcagaggcggcagagggt	7	7	19	8	2	1	2	0	0	1	2	2	3	1	3	0	6	3	4	0	6	1	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:140176802G>A	ENST00000526136.1	+	1	2253	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHA2_ENST00000378132.1_Silent_p.S751S|PCDHA2_ENST00000520672.2_Silent_p.S751S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	751	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672																																						uc003lhd.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2251-2253)tcG>tcA		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							43	47	46					5																	140176802		2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140176802G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2253G>A	5.37:g.140176802G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S751S|PCDHAC2_uc011czy.2_Silent_p.S751S	p.S751S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2359	+			788					O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2253G>A	CCDS54914.1																																																																																				0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140176802	G	A	140176802	2	1	43	1	0	0	0	0	0	0	0	1	11524	1074	38	1		1	PCDHA2	5	140176802	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	2328304	140176802	40738458	27	2701											
ARAP3	64411	broad.mit.edu	37	chr5	141041288	141041288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggccagtgtgcggcGgttgacccgcggcaggcagc	5	5	20	11	4	0	1	0	1	0	0	0	2	0	1	2	6	2	3	2	6	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:141041288G>A	ENST00000239440.4	-	21	3147	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	ARAP3_ENST00000513878.1_Missense_Mutation_p.R690C|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R859C	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1028	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGTGTGCGGCGGTTGACCCGC	0.557																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3082-3084)Cgc>Tgc		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							91	96	94					5																	141041288		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041288G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3082C>T	5.37:g.141041288G>A	ENSP00000239440:p.Arg1028Cys					ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.R690C|ARAP3_uc003lln.3_Missense_Mutation_p.R859C	p.R1028C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			20	3160	-			1028			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3082C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296281	0.81025	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22134	1.97;1.97;1.97	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.125363	0.51477	D	0.000100	T	0.48447	0.1500	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.989;0.966	T	0.49781	-0.8903	10	0.87932	D	0	.	13.7431	0.62860	0.0:0.0:0.8462:0.1538	.	690;859;1028	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	C	859;1028;690	ENSP00000421826:R859C;ENSP00000239440:R1028C;ENSP00000421468:R690C	ENSP00000239440:R1028C	R	-	1	0	ARAP3	141021472	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.740000	0.47418	2.777000	0.95525	0.655000	0.94253	CGC		0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141041288	G	A	141041288	3	1	43	1	0	0	0	0	1	0	0	0	840	1116	39	2	1604	2	ARAP3	5	141041288	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	864486	141041288	39873972	28	2702											
ZNF165	7718	broad.mit.edu	37	chr6	28053436	28053436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttctgctaccaggatTctcctggacctcgcgaggca	7	9	12	13	2	2	0	0	0	2	0	4	3	2	2	3	4	2	4	3	4	1	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:28053436T>C	ENST00000377325.1	+	2	734	c.178T>C	c.(178-180)Tct>Cct	p.S60P		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	60					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACCAGGATTCTCCTGGACC	0.537																																						uc021yro.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(178-180)Tct>Cct		Homo sapiens zinc finger protein 165 (ZNF165), mRNA.							91	99	97					6																	28053436		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053436T>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.178T>C	6.37:g.28053436T>C	ENSP00000366542:p.Ser60Pro					ZNF165_uc003nkh.3_Missense_Mutation_p.S60P|ZNF165_uc003nki.4_Missense_Mutation_p.S60P	p.S60P	NM_003447	NP_003438	P49910	ZN165_HUMAN			1	1005	+			60						Missense_Mutation	SNP	ENST00000377325.1	37	c.178T>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520454	0.44866	.	.	ENSG00000197279	ENST00000377325	T	0.04551	3.6	3.72	-2.95	0.05564	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05868	0.0153	M	0.87180	2.865	0.09310	N	1	D	0.53462	0.96	P	0.51777	0.679	T	0.10200	-1.0640	9	0.72032	D	0.01	.	7.2063	0.25909	0.152:0.0:0.5963:0.2516	.	60	P49910	ZN165_HUMAN	P	60	ENSP00000366542:S60P	ENSP00000366542:S60P	S	+	1	0	ZNF165	28161415	0.000000	0.05858	0.056000	0.19401	0.607000	0.37147	-0.439000	0.06897	-0.231000	0.09825	0.533000	0.62120	TCT		0.537	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		C	28053436	T	C	28053436	3	2	43	1	0	0	0	0	1	0	0	0	17737	1783	62	4	180	4	ZNF165	6	28053436	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08		28053436	143061631	29	2703											
ITPR3	3710	broad.mit.edu	37	chr6	33653482	33653482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgctgggccccagcctgCgccgggggcacgaggtgagc	5	4	17	15	4	0	1	0	1	0	0	1	2	0	1	4	4	3	2	4	4	0	0	rs201614062		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:33653482C>T	ENST00000374316.5	+	42	6605	c.5545C>T	c.(5545-5547)Cgc>Tgc	p.R1849C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1849C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1849					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R1849C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCCAGCCTGCGCCGGGGGCA	0.662																																						uc021ywr.1																			1	Substitution - Missense(1)	p.R1849C(2)	central_nervous_system(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5545-5547)Cgc>Tgc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.			CYS/ARG	0,4406		0,0,2203	61	58	59		5545	3.8	1	6		59	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ITPR3	NM_002224.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1849/2672	33653482	2,13004	2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653482C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5545C>T	6.37:g.33653482C>T	ENSP00000363435:p.Arg1849Cys						p.R1849C	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			40	5769	+			1849					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5545C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688368	0.68271	0.0	2.33E-4	ENSG00000096433	ENST00000374316	D	0.92249	-3.0	4.69	3.8	0.43715	.	1.290140	0.05376	N	0.536346	D	0.89305	0.6677	L	0.60067	1.865	0.32173	N	0.581392	D	0.62365	0.991	P	0.50192	0.634	T	0.77603	-0.2526	10	0.62326	D	0.03	-5.5769	9.171	0.37081	0.1655:0.6748:0.1597:0.0	.	1849	Q14573	ITPR3_HUMAN	C	1849	ENSP00000363435:R1849C	ENSP00000363435:R1849C	R	+	1	0	ITPR3	33761460	0.025000	0.19082	0.998000	0.56505	0.907000	0.53573	0.554000	0.23407	0.946000	0.37632	0.313000	0.20887	CGC		0.662	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33653482	C	T	33653482	3	4	43	1	0	0	0	0	1	0	0	0	7922	768	27	1	5707	1	ITPR3	6	33653482	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	5600046	33653482	137461585	30	2704											
SNAP91	9892	broad.mit.edu	37	chr6	84292053	84292053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactggagatggggaaggCgccatgaaagaacccccaaa	14	4	13	10	1	1	3	1	1	0	2	1	5	1	4	3	4	1	0	3	4	4	0	rs202058742		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:84292053C>T	ENST00000439399.2	-	23	2353	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SNAP91_ENST00000428679.2_Silent_p.A679A|SNAP91_ENST00000521485.1_Silent_p.A679A|SNAP91_ENST00000437520.1_Silent_p.A372A|SNAP91_ENST00000369694.2_Silent_p.A679A|SNAP91_ENST00000521743.1_Silent_p.A679A|SNAP91_ENST00000520302.1_Silent_p.A649A|SNAP91_ENST00000520213.1_Silent_p.A372A|SNAP91_ENST00000195649.6_Silent_p.A679A|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	679					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATGGGGAAGGCGCCATGAAAG	0.433													C|||	1	0.000199681	0	0	5008	,	,		16405	0.001		0	False		,,,				2504	0					uc021zcf.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2035-2037)gcG>gcA		Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.							60	61	61					6																	84292053		1937	4140	6077	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84292053C>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2037G>A	6.37:g.84292053C>T						SNAP91_uc011dzd.2_Silent_p.A182A|SNAP91_uc003pka.3_Silent_p.A677A|SNAP91_uc011dze.2_Silent_p.A677A|SNAP91_uc003pkc.3_Silent_p.A649A|SNAP91_uc003pkd.3_Silent_p.A372A|SNAP91_uc003pkb.3_Silent_p.A588A	p.A679A	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	21	2067	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	679					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.2037G>A	CCDS47455.1																																																																																				0.433	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			T	84292053	C	T	84292053	2	4	43	1	0	0	0	0	0	0	0	1	14833	755	27	1		1	SNAP91	6	84292053	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	50638571	84292053	86823014	31	2705											
PM20D2	135293	broad.mit.edu	37	chr6	89868090	89868090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattacaatgttcttcccaAtaagagcctatggaaagcct	13	13	6	9	0	1	1	0	0	1	1	2	2	2	2	3	1	3	1	3	1	7	6	rs141826904		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:89868090A>G	ENST00000275072.4	+	5	1054	c.959A>G	c.(958-960)aAt>aGt	p.N320S		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	320						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GTTCTTCCCAATAAGAGCCTA	0.318													A|||	1	0.000199681	8e-04	0	5008	,	,		16644	0		0	False		,,,				2504	0					uc003pmz.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12						c.(958-960)aAt>aGt		Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.		A	SER/ASN	5,4401	8.1+/-20.4	0,5,2198	93	100	98		959	5.3	1	6	dbSNP_134	98	0,8596		0,0,4298	yes	missense	PM20D2	NM_001010853.1	46	0,5,6496	GG,GA,AA		0.0,0.1135,0.0385	probably-damaging	320/437	89868090	5,12997	2203	4298	6501	SO:0001583	missense	135293						hydrolase activity	g.chr6:89868090A>G	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.959A>G	6.37:g.89868090A>G	ENSP00000275072:p.Asn320Ser						p.N320S	NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	4	1054	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	320					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.959A>G	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235486	0.79800	0.001135	0.0	ENSG00000146281	ENST00000275072	T	0.47869	0.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.86097	2.795	0.46396	D	0.999025	D	0.65815	0.995	D	0.67231	0.95	T	0.70630	-0.4819	10	0.54805	T	0.06	-14.5779	15.309	0.74016	1.0:0.0:0.0:0.0	.	320	Q8IYS1	P20D2_HUMAN	S	320	ENSP00000275072:N320S	ENSP00000275072:N320S	N	+	2	0	PM20D2	89924809	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.287000	0.72671	2.016000	0.59253	0.477000	0.44152	AAT		0.318	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		G	89868090	A	G	89868090	3	3	43	1	0	0	0	0	1	0	0	0	12129	101	4	4	977	4	PM20D2	6	89868090	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	5576037	89868090	81246977	32	2706											
SIM1	6492	broad.mit.edu	37	chr6	100841583	100841583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcctcgagtggtcaagCgcaaagccatagcagagaga	14	4	12	11	2	1	2	1	0	0	2	2	4	1	2	3	1	4	2	3	1	3	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:100841583C>T	ENST00000369208.3	-	11	2132	c.1350G>A	c.(1348-1350)gcG>gcA	p.A450A	SIM1_ENST00000262901.4_Silent_p.A450A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	450	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1348-1350)gcG>gcA		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							83	80	81					6																	100841583		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841583C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1350G>A	6.37:g.100841583C>T						SIM1_uc021zdg.1_Silent_p.A450A|SIM1_uc010kcu.3_Silent_p.A450A	p.A450A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1817	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	450			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1350G>A	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100841583	C	T	100841583	2	4	43	1	0	0	0	0	0	0	0	1	14323	755	27	1		1	SIM1	6	100841583	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	10973493	100841583	70273484	33	2707											
BCLAF1	9774	broad.mit.edu	37	chr6	136599630	136599630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagatctatatgaccggCgagatctgcttctggatctt	10	13	10	8	2	4	4	0	1	4	3	4	6	4	5	1	2	1	1	1	2	4	5	rs147614051		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:136599630C>T	ENST00000531224.1	-	4	641	c.389G>A	c.(388-390)cGc>cAc	p.R130H	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R130H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R128H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R130H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R128H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R128H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	130					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATGACCGGCGAGATCTGCT	0.458																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(388-390)cGc>cAc		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	188	201	196		383,389,389	5.6	1	6	dbSNP_134	196	0,8600		0,0,4300	yes	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	128/870,130/748,130/921	136599630	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599630C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.389G>A	6.37:g.136599630C>T	ENSP00000435210:p.Arg130His					BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H	p.R130H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	642	-	Colorectal(23;0.24)		130					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.389G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150168	0.57151	2.27E-4	0.0	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.13114	0.0318	N	0.16368	0.405	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	P;P;P;P	0.57324	0.706;0.818;0.706;0.706	T	0.08743	-1.0707	10	0.52906	T	0.07	-1.1415	19.6986	0.96043	0.0:1.0:0.0:0.0	.	128;128;130;130	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	130;128;130;130;128;128;130	ENSP00000435210:R130H;ENSP00000229446:R128H;ENSP00000435441:R130H;ENSP00000436501:R130H;ENSP00000434826:R128H;ENSP00000376159:R128H;ENSP00000431734:R130H	ENSP00000229446:R128H	R	-	2	0	BCLAF1	136641323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.469000	0.53093	2.660000	0.90430	0.557000	0.71058	CGC		0.458	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136599630	C	T	136599630	3	4	43	1	0	0	0	0	1	0	0	0	1383	768	27	1	2413	1	BCLAF1	6	136599630	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	35758047	136599630	34515437	34	2708											
OPRM1	4988	broad.mit.edu	37	chr6	154412347	154412347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcccattcacatttacGtcatcattaaagccttggtt	10	14	6	11	1	3	0	3	0	0	0	4	1	4	1	2	2	2	1	2	2	3	6	rs187512719		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:154412347G>A	ENST00000330432.7	+	3	1141	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	OPRM1_ENST00000360422.4_Missense_Mutation_p.V302I|OPRM1_ENST00000419506.2_Missense_Mutation_p.V302I|OPRM1_ENST00000522236.1_Missense_Mutation_p.V202I|OPRM1_ENST00000518759.1_Missense_Mutation_p.V221I|OPRM1_ENST00000522555.1_Missense_Mutation_p.V202I|OPRM1_ENST00000414028.2_Missense_Mutation_p.V302I|OPRM1_ENST00000435918.2_Missense_Mutation_p.V302I|OPRM1_ENST00000428397.2_Missense_Mutation_p.V302I|OPRM1_ENST00000434900.2_Missense_Mutation_p.V395I|OPRM1_ENST00000520708.1_Missense_Mutation_p.V202I|OPRM1_ENST00000337049.4_Missense_Mutation_p.V302I|OPRM1_ENST00000524163.1_Missense_Mutation_p.V302I|OPRM1_ENST00000452687.2_Missense_Mutation_p.V302I|OPRM1_ENST00000229768.5_Missense_Mutation_p.V302I	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	302					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCACATTTACGTCATCATTAA	0.483													G|||	0	0	0	0	5008	,	,		21287	0		0	False		,,,				2504	0					uc011efe.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1183-1185)Gtc>Atc		Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	157	171	166		904,904,904,904,1183,604,661,904,904,904,904,904,604	5.9	1	6		166	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001008504.2,NM_001008505.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1	29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	302/401,302/419,302/393,302/447,395/494,202/301,221/320,302/407,302/398,302/404,302/390,302/421,202/301	154412347	1,12997	2200	4299	6499	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412347G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.904G>A	6.37:g.154412347G>A	ENSP00000328264:p.Val302Ile					OPRM1_uc011efd.2_Missense_Mutation_p.V202I|OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.2_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpr.2_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	p.V395I	NM_001145279	NP_001138751	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1706	+		Ovarian(120;0.196)	302					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1183G>A	CCDS55070.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	16.15	3.041155	0.55003	2.27E-4	0.0	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.20574	0.59	0.52501	D	0.999958	D;P;P;D;D;P;P;P;P;P;P;P	0.89917	1.0;0.848;0.848;1.0;0.97;0.717;0.469;0.919;0.875;0.692;0.919;0.669	D;B;B;D;P;B;B;P;B;B;P;B	0.83275	0.996;0.267;0.267;0.996;0.555;0.28;0.182;0.555;0.386;0.139;0.555;0.184	T	0.07046	-1.0793	10	0.21540	T	0.41	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	302;302;302;302;395;221;202;302;302;302;302;302	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	I	395;202;221;302;302;302;302;302;302;302;302;302;302;202;202	ENSP00000394624:V395I;ENSP00000430876:V202I;ENSP00000430260:V221I;ENSP00000328264:V302I;ENSP00000353598:V302I;ENSP00000411903:V302I;ENSP00000410497:V302I;ENSP00000229768:V302I;ENSP00000403549:V302I;ENSP00000430097:V302I;ENSP00000399359:V302I;ENSP00000413752:V302I;ENSP00000338381:V302I;ENSP00000429719:V202I;ENSP00000429373:V202I	ENSP00000229768:V302I	V	+	1	0	OPRM1	154454040	1.000000	0.71417	0.984000	0.44739	0.891000	0.51852	6.722000	0.74735	2.774000	0.95407	0.650000	0.86243	GTC		0.483	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154412347	G	A	154412347	3	1	43	1	0	0	0	0	1	0	0	0	10887	1145	40	1	1248	1	OPRM1	6	154412347	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	17812717	154412347	16702720	35	2709											
SDK1	221935	broad.mit.edu	37	chr7	4011107	4011107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttttttcagatcggacgtCcatcgtccaccctcctgagg	6	13	9	13	3	1	2	1	1	0	1	6	3	4	3	4	2	0	1	4	2	0	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:4011107C>A	ENST00000404826.2	+	12	1863	c.1724C>A	c.(1723-1725)tCc>tAc	p.S575Y	SDK1_ENST00000389531.3_Missense_Mutation_p.S575Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	575	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATCGGACGTCCATCGTCCAC	0.552																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1723-1725)tCc>tAc		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							89	77	81					7																	4011107		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4011107C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1724C>A	7.37:g.4011107C>A	ENSP00000385899:p.Ser575Tyr						p.S575Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1863	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	575			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1724C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.913799	0.00503	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61392	0.11;0.13	5.35	-0.546	0.11840	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.032200	0.07673	N	0.935756	T	0.55924	0.1951	L	0.50333	1.59	0.09310	N	1	B	0.33883	0.43	B	0.39771	0.309	T	0.55192	-0.8179	10	0.56958	D	0.05	.	11.1674	0.48552	0.0:0.4934:0.0:0.5066	.	575	Q7Z5N4	SDK1_HUMAN	Y	575	ENSP00000385899:S575Y;ENSP00000374182:S575Y	ENSP00000374182:S575Y	S	+	2	0	SDK1	3977633	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	0.035000	0.13797	-0.030000	0.13804	-0.302000	0.09304	TCC		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4011107	C	A	4011107	3	1	43	1	0	0	0	0	1	0	0	0	13968	855	30	5	1770	5	SDK1	7	4011107	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		4011107	155127556	36	2710											
IKZF1	10320	broad.mit.edu	37	chr7	50468038	50468038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccgcacgcgcgcaacGggctgtcgctcaaggaggag	7	4	15	15	7	1	0	1	0	0	0	3	2	1	2	2	3	1	4	2	3	2	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:50468038G>A	ENST00000331340.3	+	8	1428	c.1273G>A	c.(1273-1275)Ggg>Agg	p.G425R	IKZF1_ENST00000349824.4_Missense_Mutation_p.G282R|IKZF1_ENST00000346667.4_Missense_Mutation_p.G195R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Missense_Mutation_p.G338R|IKZF1_ENST00000439701.1_Missense_Mutation_p.G383R|IKZF1_ENST00000438033.1_Missense_Mutation_p.G338R|IKZF1_ENST00000343574.5_Missense_Mutation_p.G338R|IKZF1_ENST00000359197.5_Missense_Mutation_p.G383R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	425				PHARNGL -> RRAQRV (in Ref. 2; AAB50683). {ECO:0000305}.	B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCGCGCAACGGGCTGTCGCT	0.677			"D,T"	BCL6	"ALL, DLBCL"																																	uc003tow.4				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1273-1275)Ggg>Agg		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							30	36	34					7																	50468038		2158	4249	6407	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468038G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1273G>A	7.37:g.50468038G>A	ENSP00000331614:p.Gly425Arg					IKZF1_uc022acq.1_Missense_Mutation_p.G282R|IKZF1_uc003tpa.4_Missense_Mutation_p.G190R|IKZF1_uc022acr.1_Missense_Mutation_p.G200R|IKZF1_uc022acs.1_Missense_Mutation_p.G155R|IKZF1_uc022act.1_Missense_Mutation_p.G328R|IKZF1_uc022acu.1_Missense_Mutation_p.G338R|IKZF1_uc003tox.4_Missense_Mutation_p.G383R|IKZF1_uc022acv.1_Missense_Mutation_p.G286R|IKZF1_uc022acw.1_Missense_Mutation_p.G296R|IKZF1_uc022acx.1_Missense_Mutation_p.G338R|IKZF1_uc022acy.1_Missense_Mutation_p.G232R|IKZF1_uc022acz.1_Missense_Mutation_p.G242R|IKZF1_uc011kck.2_Missense_Mutation_p.G338R|IKZF1_uc003toy.4_Missense_Mutation_p.G383R|IKZF1_uc003toz.4_Missense_Mutation_p.G395R|IKZF1_uc010kyx.3_Missense_Mutation_p.G165R	p.G425R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1428	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	425	PHARNGL -> RRAQRV (in Ref. 2; AAB50683).				A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1273G>A		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205721	0.39003	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.05786	4.75;3.39;3.46;4.47;3.57;3.47;3.39;3.46	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.896;1.0;0.998;1.0	T	0.02437	-1.1159	9	0.23891	T	0.37	-18.1057	16.2319	0.82347	0.0:0.0:0.8661:0.1339	.	338;195;338;383;425	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	R	195;338;383;282;338;425;338;383	ENSP00000340080:G195R;ENSP00000342750:G338R;ENSP00000352123:G383R;ENSP00000342485:G282R;ENSP00000349928:G338R;ENSP00000331614:G425R;ENSP00000396554:G338R;ENSP00000413025:G383R	ENSP00000331614:G425R	G	+	1	0	IKZF1	50435532	1.000000	0.71417	0.970000	0.41538	0.048000	0.14542	9.789000	0.99068	1.414000	0.47017	-0.175000	0.13238	GGG		0.677	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		A	50468038	G	A	50468038	3	1	43	1	0	0	0	0	1	0	0	0	7614	1116	39	2	1299	2	IKZF1	7	50468038	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	46456931	50468038	108670625	37	2711											
VSTM2A	222008	broad.mit.edu	37	chr7	54636702	54636702	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttataacttcttccgcagGtgcgaggatagctacaagcc	10	11	9	11	2	2	0	0	0	2	0	3	2	3	1	2	2	5	2	2	2	5	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:54636702G>C	ENST00000407838.3	+	5	1041	c.635G>C	c.(634-636)gGt>gCt	p.G212A	VSTM2A_ENST00000404951.1_Intron|VSTM2A_ENST00000498834.1_Intron|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000402613.3_Intron	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	212						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCTTCCGCAGGTGCGAGGATA	0.383																																						uc010kzf.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.e5-1		Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.							173	160	164					7																	54636702		1878	4101	5979	SO:0001630	splice_region_variant	222008					extracellular region		g.chr7:54636702G>C	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.635-1G>C	7.37:g.54636702G>C						AB074160_uc022adl.1_Intron|AB074160_uc003tqd.3_5'Flank	p.G212_splice	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		5	1040	+			212					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.635_splice	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656080	0.29425	.	.	ENSG00000170419	ENST00000407838	T	0.46451	0.87	6.09	6.09	0.99107	.	.	.	.	.	T	0.30727	0.0774	N	0.21142	0.635	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.07366	-1.0776	8	.	.	.	.	16.195	0.82021	0.0:0.0:1.0:0.0	.	212	Q8TAG5	VTM2A_HUMAN	A	212	ENSP00000384967:G212A	.	G	+	2	0	VSTM2A	54604196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.050000	0.76620	2.899000	0.99337	0.655000	0.94253	GGT		0.383	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546	Missense_Mutation	C	54636702	G	C	54636702	5	2	43	1	0	0	0	0	0	0	1	0	17226	1275	44	5	653	5	VSTM2A	7	54636702	Splice_Site	SNP	G	TCGA-06-0209-01A-01D-1491-08	4168664	54636702	104501961	38	2712											
CALCR	799	broad.mit.edu	37	chr7	93106887	93106887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatggatcaaaatccGgaaaataatctgggcagaac	16	8	9	8	1	2	2	1	1	1	1	3	4	3	4	2	3	2	1	2	3	7	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:93106887G>A	ENST00000394441.1	-	4	614	c.299C>T	c.(298-300)cCg>cTg	p.P100L	CALCR_ENST00000360249.4_Missense_Mutation_p.P100L|CALCR_ENST00000426151.1_Missense_Mutation_p.P100L|CALCR_ENST00000359558.2_Missense_Mutation_p.P118L|CALCR_ENST00000421592.1_Missense_Mutation_p.P100L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	118					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATCAAAATCCGGAAAATAATC	0.413																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(352-354)cCg>cTg		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						87	79	82					7																	93106887		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106887G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.299C>T	7.37:g.93106887G>A	ENSP00000377959:p.Pro100Leu					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	p.P118L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	653	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		100					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.353C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006326	0.07773	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.06	4.06	0.47325	.	.	.	.	.	T	0.41696	0.1170	L	0.50847	1.595	0.50039	D	0.999843	P;B	0.35411	0.5;0.055	B;B	0.26517	0.066;0.07	T	0.36237	-0.9756	9	0.10636	T	0.68	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	118;100	F5H605;A4D1G6	.;.	L	118;100;100;100;100;100	ENSP00000352561:P118L;ENSP00000353385:P100L;ENSP00000399552:P100L;ENSP00000377959:P100L;ENSP00000389295:P100L	ENSP00000352561:P118L	P	-	2	0	CALCR	92944823	0.028000	0.19301	0.941000	0.38009	0.019000	0.09904	0.966000	0.29331	2.544000	0.85801	0.557000	0.71058	CCG		0.413	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93106887	G	A	93106887	3	1	43	1	0	0	0	0	1	0	0	0	2579	1116	39	2	1217	2	CALCR	7	93106887	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	38470185	93106887	66031776	39	2713											
ZAN	7455	broad.mit.edu	37	chr7	100357434	100357434	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtgaccctgcccgagaGcaccgtcaccctgcttaagg	8	7	10	16	3	1	2	1	1	0	1	1	3	1	2	4	1	4	2	4	1	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:100357434G>A	ENST00000348028.3	+	0	3827				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGCCCGAGAGCACCGTCACC	0.602																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(3661-3663)aGc>aAc		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							40	43	42					7																	100357434		2097	4220	6317			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100357434G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100357434G>A						ZAN_uc003uwk.3_Missense_Mutation_p.S1221N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	p.S1221N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		17	3827	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1221			VWFD 1.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.3662G>A		.	.	.	.	.	.	.	.	.	.	G	2.674	-0.276834	0.05679	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.59083	0.29;0.29;0.29	4.23	1.25	0.21368	von Willebrand factor, type D domain (3);	0.750729	0.11395	N	0.568414	T	0.40015	0.1100	L	0.31420	0.93	0.09310	N	0.999997	B;B	0.20780	0.039;0.048	B;B	0.25291	0.035;0.059	T	0.27054	-1.0085	10	0.23891	T	0.37	.	4.3196	0.11011	0.0:0.5775:0.189:0.2336	.	1221;1221	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1221	ENSP00000445943:S1221N;ENSP00000445091:S1221N;ENSP00000444427:S1221N	ENSP00000423579:S1221N	S	+	2	0	ZAN	100195370	0.027000	0.19231	0.001000	0.08648	0.013000	0.08279	0.237000	0.17985	0.113000	0.18004	-0.255000	0.11280	AGC		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100357434	G	A	100357434	1	1	43	0	1	0	0	0	0	0	0	0	17510	971	34	3		3	ZAN	7	100357434	RNA	SNP	G	TCGA-06-0209-01A-01D-1491-08	7250547	100357434	58781229	40	2714											
C7orf58	79974	broad.mit.edu	37	chr7	120655897	120655897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggccggggctactagAacaaggtcagaatagtgaga	13	6	14	8	1	1	3	1	1	0	3	1	4	1	3	2	4	2	1	2	4	7	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:120655897A>G	ENST00000310396.5	+	3	895	c.428A>G	c.(427-429)gAa>gGa	p.E143G	CPED1_ENST00000450913.2_Missense_Mutation_p.E143G|CPED1_ENST00000340646.5_Missense_Mutation_p.E143G|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	143						endoplasmic reticulum (GO:0005783)											GGGCTACTAGAACAAGGTCAG	0.423																																						uc003vjq.4																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66						c.(427-429)gAa>gGa		Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.							48	39	42					7																	120655897		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120655897A>G		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.428A>G	7.37:g.120655897A>G	ENSP00000309772:p.Glu143Gly					C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.4_Missense_Mutation_p.E143G	p.E143G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			2	875	+	all_neural(327;0.117)		143					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.428A>G	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413991	0.11870	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.84	2.04	0.26737	.	0.979102	0.08396	N	0.952112	T	0.47414	0.1444	L	0.47716	1.5	0.21762	N	0.99955	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.37033	-0.9723	10	0.41790	T	0.15	.	4.5661	0.12187	0.6562:0.1631:0.1807:0.0	.	143;143	A4D0V7-2;A4D0V7	.;CG058_HUMAN	G	143	ENSP00000309772:E143G;ENSP00000398082:E143G;ENSP00000406122:E143G;ENSP00000345235:E143G	ENSP00000309772:E143G	E	+	2	0	C7orf58	120443133	0.266000	0.24112	0.382000	0.26119	0.286000	0.27126	0.399000	0.20916	0.094000	0.17404	0.482000	0.46254	GAA		0.423	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		G	120655897	A	G	120655897	3	3	43	1	0	0	0	0	1	0	0	0	2405	246	9	4	434	4	C7orf58	7	120655897	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	20298463	120655897	38482766	41	2715											
JHDM1D	80853	broad.mit.edu	37	chr7	139826573	139826573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggccaataattttccAcccaggaaagttttttggct	10	14	7	10	0	1	0	0	0	1	0	2	1	2	1	3	3	0	2	3	3	3	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:139826573A>T	ENST00000397560.2	-	6	849	c.752T>A	c.(751-753)gTg>gAg	p.V251E	JHDM1D_ENST00000006967.5_Missense_Mutation_p.V251E	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		251	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTTTCCACCCAGGAAAG	0.378																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(751-753)gTg>gAg		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.							84	79	81					7																	139826573		1818	4082	5900	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139826573A>T																												ENST00000397560.2:c.752T>A	7.37:g.139826573A>T	ENSP00000380692:p.Val251Glu						p.V251E	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			5	756	-	Melanoma(164;0.0142)		251			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.752T>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879666	0.91740	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.71698	-0.59;-0.59	5.9	5.9	0.94986	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.88340	0.6410	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91256	0.5033	10	0.87932	D	0	-14.7119	16.315	0.82915	1.0:0.0:0.0:0.0	.	251	Q6ZMT4	KDM7_HUMAN	E	251	ENSP00000380692:V251E;ENSP00000006967:V251E	ENSP00000006967:V251E	V	-	2	0	JHDM1D	139473042	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.339000	0.96797	2.250000	0.74265	0.533000	0.62120	GTG		0.378	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			T	139826573	A	T	139826573	3	4	43	1	0	0	0	0	1	0	0	0	7948	159	6	5	2133	5	JHDM1D	7	139826573	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	19170676	139826573	19312090	42	2716											
GSTK1	373156	broad.mit.edu	37	chr7	142964771	142964771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttctggaaaagatcgcaaCgccaaaggtgaagaaccagc	16	5	10	10	2	1	3	0	1	1	2	2	4	1	4	2	2	3	1	2	2	6	1	rs41275042	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142964771C>T	ENST00000358406.5	+	6	553	c.482C>T	c.(481-483)aCg>aTg	p.T161M	GSTK1_ENST00000409500.3_Missense_Mutation_p.T149M|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.T118M|GSTK1_ENST00000479303.1_Missense_Mutation_p.T217M	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	161					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAGATCGCAACGCCAAAGGTG	0.512													C|||	2	0.000399361	0	0	5008	,	,		19423	0		0.001	False		,,,				2504	0.001					uc003wci.3																			0				lung(4)	4						c.(481-483)aCg>aTg		Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glutathione(DB00143)	C	MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	139	127	131		650,446,353,482	5.3	0.1	7	dbSNP_127	131	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense,missense	GSTK1	NM_001143679.1,NM_001143680.1,NM_001143681.1,NM_015917.2	81,81,81,81	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging	217/283,149/215,118/184,161/227	142964771	7,12999	2203	4300	6503	SO:0001583	missense	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142964771C>T		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.482C>T	7.37:g.142964771C>T	ENSP00000351181:p.Thr161Met					GSTK1_uc011ksy.2_Missense_Mutation_p.T118M|GSTK1_uc003wcj.3_Missense_Mutation_p.T217M|GSTK1_uc011ksz.2_Missense_Mutation_p.T149M	p.T161M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN			5	567	+	Melanoma(164;0.059)		161					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.482C>T	CCDS5877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.77	3.215603	0.58452	4.54E-4	5.81E-4	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.28	5.28	0.74379	Protein disulphide isomerase, central domain (1);DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.151776	0.64402	D	0.000017	T	0.64316	0.2587	M	0.78049	2.395	0.09310	N	1	D;D;D;D	0.76494	0.998;0.995;0.999;0.994	P;P;D;P	0.62955	0.819;0.901;0.909;0.721	T	0.61013	-0.7148	9	0.72032	D	0.01	-17.4483	9.994	0.41887	0.0:0.9083:0.0:0.0917	rs41275042	149;118;217;161	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	M	149;118;161;217	.	ENSP00000351181:T161M	T	+	2	0	GSTK1	142674893	0.014000	0.17966	0.135000	0.22099	0.107000	0.19398	2.020000	0.41010	2.494000	0.84150	0.549000	0.68633	ACG		0.512	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		T	142964771	C	T	142964771	3	4	43	1	0	0	0	0	1	0	0	0	6836	536	19	1	668	1	GSTK1	7	142964771	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	3138198	142964771	16173892	43	2717											
NOBOX	135935	broad.mit.edu	37	chr7	144098495	144098495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtggggagccctggagCgggggggcgggcacagtctc	4	7	20	10	2	1	0	0	0	1	0	2	2	1	2	1	7	2	1	1	7	0	1	rs558507338		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:144098495C>T	ENST00000467773.1	-	4	487	c.488G>A	c.(487-489)cGc>cAc	p.R163H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R78H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R163H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	163					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGG	0.627																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(487-489)cGc>cAc		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							20	23	22					7																	144098495		1865	4084	5949	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098495C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.488G>A	7.37:g.144098495C>T	ENSP00000419457:p.Arg163His						p.R163H	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	488	-	Melanoma(164;0.14)		163					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.488G>A		.	.	.	.	.	.	.	.	.	.	C	13.07	2.126491	0.37533	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94376	-3.06;-3.41;-2.98	3.77	2.79	0.32731	.	2.097640	0.02878	U	0.132534	D	0.85435	0.5696	N	0.14661	0.345	0.09310	N	1	P	0.42973	0.796	B	0.32393	0.145	T	0.80279	-0.1449	10	0.51188	T	0.08	-0.0153	7.9025	0.29742	0.2458:0.7542:0.0:0.0	.	163	O60393	NOBOX_HUMAN	H	163;163;78	ENSP00000419565:R163H;ENSP00000419457:R163H;ENSP00000223140:R78H	ENSP00000223140:R78H	R	-	2	0	NOBOX	143729428	0.063000	0.20901	0.047000	0.18901	0.013000	0.08279	0.439000	0.21575	2.101000	0.63845	0.561000	0.74099	CGC		0.627	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144098495	C	T	144098495	3	4	43	1	0	0	0	0	1	0	0	0	10512	768	27	1	1519	1	NOBOX	7	144098495	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	1133724	144098495	15040168	44	2718											
AGAP3	116988	broad.mit.edu	37	chr7	150840441	150840441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagagaggagaaggaaCgctggatacgggccaagtat	13	6	16	6	2	0	2	0	0	0	2	0	6	0	4	1	4	3	4	1	4	5	3	rs372948404		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:150840441C>T	ENST00000463381.1	+	15	1790	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	AGAP3_ENST00000397238.2_Missense_Mutation_p.R763C	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	727	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R763C(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGAAGGAACGCTGGATACG	0.617																																						uc003wjg.1																			1	Substitution - Missense(1)	p.R763C(2)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2287-2289)Cgc>Tgc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.		C	CYS/ARG	1,4215		0,1,2107	48	54	52		2287	4.4	1	7		52	1,8481		0,1,4240	no	missense	AGAP3	NM_031946.4	180	0,2,6347	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	763/912	150840441	2,12696	2108	4241	6349	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840441C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1294C>T	7.37:g.150840441C>T	ENSP00000418016:p.Arg432Cys					AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	p.R763C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2290	+			727					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2287C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.034843	0.75617	2.37E-4	1.18E-4	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.44881	0.91;0.91	5.28	4.4	0.53042	.	0.300824	0.37304	N	0.002143	T	0.64103	0.2568	M	0.87547	2.89	0.80722	D	1	D;D;D;B	0.65815	0.995;0.989;0.994;0.06	P;P;P;B	0.58820	0.846;0.67;0.799;0.013	T	0.72228	-0.4354	10	0.87932	D	0	.	13.3045	0.60345	0.0:0.9242:0.0:0.0758	.	727;262;763;432	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	C	432;262;763;727	ENSP00000418016:R432C;ENSP00000380413:R763C	ENSP00000334157:R727C	R	+	1	0	AGAP3	150471374	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.192000	0.50989	1.458000	0.47871	0.655000	0.94253	CGC		0.617	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		T	150840441	C	T	150840441	3	4	43	1	0	0	0	0	1	0	0	0	369	536	19	1	2420	1	AGAP3	7	150840441	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	6741946	150840441	8298222	45	2719											
RBM33	155435	broad.mit.edu	37	chr7	155538204	155538204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacacaaagcctggcGtgaaaaggactgtcacgcac	13	4	11	13	2	1	1	1	1	0	0	1	3	1	3	2	3	1	1	2	3	3	0	rs371777379		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:155538204G>T	ENST00000401878.3	+	14	3085	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	963							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAAGCCTGGCGTGAAAAGGAC	0.602																																						uc010lqk.1																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2887-2889)Gtg>Ttg		Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.							41	39	40					7																	155538204		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155538204G>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2887G>T	7.37:g.155538204G>T	ENSP00000384160:p.Val963Leu					RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	p.V963L	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	3255	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	963					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2887G>T	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227253	0.58668	.	.	ENSG00000184863	ENST00000401878	T	0.46063	0.88	5.63	3.81	0.43845	.	0.471857	0.19435	N	0.114324	T	0.33760	0.0874	L	0.46157	1.445	0.28495	N	0.914295	B;P	0.43542	0.001;0.81	B;B	0.40702	0.005;0.338	T	0.22765	-1.0207	10	0.45353	T	0.12	.	6.044	0.19750	0.2124:0.1388:0.6488:0.0	.	680;963	B4DVQ2;Q96EV2	.;RBM33_HUMAN	L	963	ENSP00000384160:V963L	ENSP00000384160:V963L	V	+	1	0	RBM33	155230965	0.987000	0.35691	0.794000	0.32065	0.977000	0.68977	2.402000	0.44521	0.724000	0.32296	0.655000	0.94253	GTG		0.602	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		T	155538204	G	T	155538204	3	4	43	1	0	0	0	0	1	0	0	0	13130	1145	40	5	2941	5	RBM33	7	155538204	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4697763	155538204	3600459	46	2720											
RB1CC1	9821	broad.mit.edu	37	chr8	53571454	53571454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggaatggctgaacttccGaaggacaaaatgattgcaga	15	8	12	6	1	0	4	0	3	0	1	1	7	1	6	1	3	2	2	1	3	5	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr8:53571454G>A	ENST00000025008.5	-	13	2295	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S591L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S591L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	591					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGAACTTCCGAAGGACAAAA	0.323																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1771-1773)tCg>tTg		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							35	36	36					8																	53571454		2203	4297	6500	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53571454G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1772C>T	8.37:g.53571454G>A	ENSP00000025008:p.Ser591Leu					RB1CC1_uc003xrf.4_Missense_Mutation_p.S591L	p.S591L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			12	2330	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	591					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1772C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681823	0.47991	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.14766	2.48;2.48;2.48	5.02	4.14	0.48551	.	0.272646	0.31797	N	0.007042	T	0.13030	0.0316	L	0.51422	1.61	0.41456	D	0.988014	P;P	0.42757	0.789;0.685	B;B	0.31337	0.128;0.06	T	0.05402	-1.0887	10	0.66056	D	0.02	-8.3249	15.808	0.78531	0.0:0.1364:0.8636:0.0	.	591;591	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	591	ENSP00000025008:S591L;ENSP00000396067:S591L;ENSP00000445960:S591L	ENSP00000025008:S591L	S	-	2	0	RB1CC1	53734007	1.000000	0.71417	0.977000	0.42913	0.848000	0.48234	3.602000	0.54066	1.224000	0.43551	0.563000	0.77884	TCG		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53571454	G	A	53571454	3	1	43	1	0	0	0	0	1	0	0	0	13099	1059	37	2	3060	2	RB1CC1	8	53571454	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		53571454	92792568	47	2721											
C10orf2	56652	broad.mit.edu	37	chr10	102749558	102749558	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggggcggctggaagatcaActggacaaatatgatcactg	13	7	14	7	1	2	2	2	1	0	1	2	5	2	4	0	5	1	1	0	5	4	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr10:102749558A>G	ENST00000311916.2	+	2	1586	c.1401A>G	c.(1399-1401)caA>caG	p.Q467Q	MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Silent_p.Q467Q|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	467	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAAGATCAACTGGACAAAT	0.542																																						uc001ksf.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1399-1401)caA>caG		Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.							133	128	130					10																	102749558		2203	4300	6503	SO:0001819	synonymous_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749558A>G	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1401A>G	10.37:g.102749558A>G						MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Silent_p.Q13Q|C10orf2_uc001ksg.2_Silent_p.Q467Q|C10orf2_uc001ksi.2_Silent_p.Q13Q|C10orf2_uc021pxb.1_Non-coding_Transcript	p.Q467Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	2076	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	467			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	ENST00000311916.2	37	c.1401A>G	CCDS7506.1																																																																																				0.542	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		G	102749558	A	G	102749558	2	3	43	1	0	0	0	0	0	0	0	1	1597	40	2	4		4	C10orf2	10	102749558	Silent	SNP	A	TCGA-06-0209-01A-01D-1491-08		102749558	32785189	48	2722											
OR56A4	120793	broad.mit.edu	37	chr11	6024337	6024337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtttccactgaggccCtgtatctgtcccaataaagt	8	13	10	10	0	1	1	0	1	1	0	3	1	3	1	3	2	0	2	3	2	4	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:6024337C>T	ENST00000330728.4	-	1	87	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGAGGCCCTGTATCTGTC	0.368																																						uc010qzv.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(40-42)caG>caA		Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.							108	121	117					11																	6024337		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024337C>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.42G>A	11.37:g.6024337C>T							p.Q14Q	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	42	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	0					B9EH17	Silent	SNP	ENST00000330728.4	37	c.42G>A	CCDS31404.1																																																																																				0.368	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		T	6024337	C	T	6024337	2	4	43	1	0	0	0	0	0	0	0	1	11135	680	24	3		3	OR56A4	11	6024337	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		6024337	128982179	49	2723											
OR4P4	81300	broad.mit.edu	37	chr11	55406071	55406071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtgacccccaaattaAtggttgacttactggcagaa	13	9	8	11	0	0	3	0	2	0	1	0	3	0	3	3	2	1	2	3	2	4	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:55406071A>G	ENST00000314612.2	+	1	238	c.238A>G	c.(238-240)Atg>Gtg	p.M80V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CCCCAAATTAATGGTTGACTT	0.413																																						uc010rij.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(238-240)Atg>Gtg		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							142	122	129					11																	55406071		2179	4031	6210	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406071A>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.238A>G	11.37:g.55406071A>G	ENSP00000324831:p.Met80Val						p.M80V	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	238	+			80						Missense_Mutation	SNP	ENST00000314612.2	37	c.238A>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	1.458	-0.563240	0.03939	.	.	ENSG00000181927	ENST00000314612	T	0.00361	7.85	5.18	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.955566	0.08621	N	0.918486	T	0.00178	0.0005	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38672	-0.9650	10	0.66056	D	0.02	-13.1196	5.2535	0.15534	0.4569:0.2879:0.0:0.2552	.	80	Q8NGL7	OR4P4_HUMAN	V	80	ENSP00000324831:M80V	ENSP00000324831:M80V	M	+	1	0	OR4P4	55162647	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-0.788000	0.04614	0.765000	0.33221	0.519000	0.50382	ATG		0.413	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		G	55406071	A	G	55406071	3	3	43	1	0	0	0	0	1	0	0	0	11080	101	4	4	240	4	OR4P4	11	55406071	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	49381734	55406071	79600445	50	2724											
GLYATL1	92292	broad.mit.edu	37	chr11	58723260	58723260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtctcatgggtaaccatGgacccttcttgtgaagtagg	8	11	12	10	1	2	1	1	1	2	0	3	2	2	2	3	4	1	2	3	4	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:58723260G>A	ENST00000317391.4	+	8	1009	c.669G>A	c.(667-669)atG>atA	p.M223I	GLYATL1_ENST00000300079.5_Missense_Mutation_p.M254I|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	223						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.M254I(1)|p.M223I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGTAACCATGGACCCTTCTT	0.522																																						uc001nnh.2																			2	Substitution - Missense(2)	p.M254I(2)|p.M223I(1)	lung(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(760-762)atG>atA		Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	Glycine(DB00145)						59	55	56					11																	58723260		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723260G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.669G>A	11.37:g.58723260G>A	ENSP00000322223:p.Met223Ile					GLYATL1_uc001nnf.3_Missense_Mutation_p.M223I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M223I	p.M254I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN			6	812	+			223					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.762G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875194	0.51695	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16073	2.37;2.37	2.62	2.62	0.31277	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.315214	0.22438	U	0.060044	T	0.22205	0.0535	M	0.73430	2.235	0.09310	N	1	P;P	0.40534	0.673;0.72	B;B	0.42959	0.351;0.403	T	0.06373	-1.0830	10	0.41790	T	0.15	.	8.4486	0.32858	0.0:0.0:1.0:0.0	.	254;223	Q969I3-2;Q969I3	.;GLYL1_HUMAN	I	200;223;254	ENSP00000322223:M223I;ENSP00000300079:M254I	ENSP00000300079:M254I	M	+	3	0	GLYATL1	58479836	0.960000	0.32886	0.073000	0.20177	0.303000	0.27691	2.196000	0.42686	1.284000	0.44531	0.411000	0.27672	ATG		0.522	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		A	58723260	G	A	58723260	3	1	43	1	0	0	0	0	1	0	0	0	6480	1348	47	3	788	3	GLYATL1	11	58723260	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3317189	58723260	76283256	51	2725											
TRPC6	7225	broad.mit.edu	37	chr11	101347101	101347101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaaagtatcatttgcgtCaatgatgctctgggctttgg	8	15	10	8	1	4	1	3	1	1	0	4	1	4	1	0	2	2	3	0	2	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:101347101C>T	ENST00000344327.3	-	6	2099	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.D504N|TRPC6_ENST00000348423.4_Missense_Mutation_p.D443N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	559					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATTTGCGTCAATGATGCTC	0.378																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1675-1677)Gac>Aac		Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.							107	92	97					11																	101347101		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347101C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1675G>A	11.37:g.101347101C>T	ENSP00000340913:p.Asp559Asn					TRPC6_uc009ywy.3_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	p.D559N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	5	2100	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	559					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1675G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648218	0.67358	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;T;T	0.89050	-2.46;-0.98;-1.25	5.67	5.67	0.87782	Ion transport (1);	0.089733	0.85682	D	0.000000	T	0.81983	0.4938	N	0.21448	0.665	0.80722	D	1	P;P;P	0.44281	0.629;0.831;0.679	B;B;B	0.35727	0.126;0.209;0.199	T	0.81510	-0.0900	10	0.31617	T	0.26	-13.8704	20.1403	0.98057	0.0:1.0:0.0:0.0	.	504;443;559	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	N	559;443;504	ENSP00000340913:D559N;ENSP00000343672:D443N;ENSP00000353687:D504N	ENSP00000340913:D559N	D	-	1	0	TRPC6	100852311	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.977000	0.56874	2.831000	0.97527	0.643000	0.83706	GAC		0.378	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		T	101347101	C	T	101347101	3	4	43	1	0	0	0	0	1	0	0	0	16580	826	29	3	1152	3	TRPC6	11	101347101	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	42623841	101347101	33659415	52	2726											
USP28	57646	broad.mit.edu	37	chr11	113677209	113677209	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattttaaaaacagagatAccttaatcagccctgcttca	16	11	5	9	0	2	2	2	0	0	2	2	3	2	2	2	0	4	1	2	0	6	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:113677209A>G	ENST00000003302.4	-	19	2469		c.e19+1		USP28_ENST00000545540.1_Intron|USP28_ENST00000544967.1_Intron|USP28_ENST00000260188.5_Intron	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACAGAGATACCTTAATCAG	0.438																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e19+1		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							52	49	50					11																	113677209		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113677209A>G	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2400+1T>C	11.37:g.113677209A>G						USP28_uc001pog.3_Intron|USP28_uc010rwy.2_Intron|USP28_uc001poi.3_Intron	p.K800_splice	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	19	2433	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	800					B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37	c.2400_splice	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036056	0.75617	.	.	ENSG00000048028	ENST00000003302;ENST00000538224	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3344	0.74241	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113182419	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.729000	0.91490	2.204000	0.70986	0.528000	0.53228	.		0.438	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron	G	113677209	A	G	113677209	5	3	43	1	0	0	0	0	0	0	1	0	17055	405	14	4	859	4	USP28	11	113677209	Splice_Site	SNP	A	TCGA-06-0209-01A-01D-1491-08	12330108	113677209	21329307	53	2727											
LRP6	4040	broad.mit.edu	37	chr12	12311913	12311913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgagatgagtgaaagaCgaggatgtccatcacataat	14	9	11	7	2	1	4	1	2	0	2	3	7	2	5	1	1	0	0	1	1	2	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:12311913C>T	ENST00000261349.4	-	12	2717	c.2641G>A	c.(2641-2643)Gtc>Atc	p.V881I	LRP6_ENST00000543091.1_Missense_Mutation_p.V881I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	881	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V881L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAGTGAAAGACGAGGATGTCC	0.537																																						uc001rah.4																			1	Substitution - Missense(1)	p.V881L(2)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2641-2643)Gtc>Atc		Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.							226	159	181					12																	12311913		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12311913C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2641G>A	12.37:g.12311913C>T	ENSP00000261349:p.Val881Ile					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	p.V881I	NM_002336	NP_002327	O75581	LRP6_HUMAN			11	2783	-		Prostate(47;0.0865)	881			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2641G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106476	0.94292	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91351	-2.83;-2.83	6.02	6.02	0.97574	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.53938	D	0.000042	D	0.92941	0.7754	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.76575	0.973;0.988	D	0.88959	0.3392	10	0.15499	T	0.54	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	881;881	F5H7J9;O75581	.;LRP6_HUMAN	I	881	ENSP00000261349:V881I;ENSP00000442472:V881I	ENSP00000261349:V881I	V	-	1	0	LRP6	12203180	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GTC		0.537	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12311913	C	T	12311913	3	4	43	1	0	0	0	0	1	0	0	0	8962	536	19	1	2248	1	LRP6	12	12311913	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		12311913	121539982	54	2728											
OVCH1	341350	broad.mit.edu	37	chr12	29628100	29628100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaatattgaagtgatGgtcaacattccacaaagttt	15	12	8	6	0	1	3	1	3	0	0	2	4	2	3	1	1	2	1	1	1	6	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:29628100G>A	ENST00000318184.5	-	14	1493	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	498	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGAAGTGATGGTCAACATTC	0.299																																						uc001rix.1																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1492-1494)acC>acT		Homo sapiens ovochymase 1 (OVCH1), mRNA.							37	33	34					12																	29628100		1808	4076	5884	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29628100G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1494C>T	12.37:g.29628100G>A							p.T498T	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			13	1494	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		498			CUB 2.			Silent	SNP	ENST00000318184.5	37	c.1494C>T																																																																																					0.299	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		A	29628100	G	A	29628100	2	1	43	1	0	0	0	0	0	0	0	1	11323	1335	47	3		3	OVCH1	12	29628100	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	17316187	29628100	104223795	55	2729											
LRP1	4035	broad.mit.edu	37	chr12	57600507	57600507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accggcgacagattgaccggGgtgtcacccacctcaacgtg	9	6	12	14	4	2	2	2	1	0	1	2	3	2	2	4	3	1	0	4	3	1	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:57600507G>T	ENST00000243077.3	+	76	12308	c.11842G>T	c.(11842-11844)Ggt>Tgt	p.G3948C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3948					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGACCGGGGTGTCACCCA	0.607																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11842-11844)Ggt>Tgt		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						62	52	55					12																	57600507		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57600507G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11842G>T	12.37:g.57600507G>T	ENSP00000243077:p.Gly3948Cys						p.G3948C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	75	12308	+			3948					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11842G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411988	0.42817	.	.	ENSG00000123384	ENST00000243077	D	0.93247	-3.19	5.38	4.49	0.54785	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.191791	0.39146	N	0.001449	D	0.89525	0.6740	L	0.41492	1.28	0.40744	D	0.982851	P	0.40619	0.724	B	0.37731	0.257	D	0.89979	0.4099	10	0.62326	D	0.03	.	13.095	0.59187	0.0788:0.0:0.9212:0.0	.	3948	Q07954	LRP1_HUMAN	C	3948	ENSP00000243077:G3948C	ENSP00000243077:G3948C	G	+	1	0	LRP1	55886774	0.992000	0.36948	0.882000	0.34594	0.999000	0.98932	2.322000	0.43814	1.410000	0.46936	0.655000	0.94253	GGT		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57600507	G	T	57600507	3	4	43	1	0	0	0	0	1	0	0	0	8951	1232	43	5	12144	5	LRP1	12	57600507	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	27972407	57600507	76251388	56	2730											
GRIP1	23426	broad.mit.edu	37	chr12	66911726	66911726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgttatcacaactggaCgagatttatttctatcatca	13	14	5	9	1	4	1	3	0	1	1	4	3	4	2	0	1	1	1	0	1	4	5	rs367635870		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:66911726C>T	ENST00000398016.3	-	6	601	c.533G>A	c.(532-534)cGt>cAt	p.R178H	GRIP1_ENST00000286445.7_Missense_Mutation_p.R178H|GRIP1_ENST00000359742.4_Missense_Mutation_p.R178H	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACAACTGGACGAGATTTATT	0.388													C|||	1	0.000199681	8e-04	0	5008	,	,		16777	0		0	False		,,,				2504	0					uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(532-534)cGt>cAt		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,3715		0,1,1857	80	78	79		533,533	4.9	1	12		79	0,8204		0,0,4102	no	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	29,29	0,1,5959	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging,probably-damaging	178/1062,178/1077	66911726	1,11919	1858	4102	5960	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66911726C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.533G>A	12.37:g.66911726C>T	ENSP00000381098:p.Arg178His					GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.3_Missense_Mutation_p.R178H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H	p.R178H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	5	774	-			178			PDZ 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.533G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735396	0.89482	2.69E-4	0.0	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309	T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.88	4.88	0.63580	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.993	T	0.39014	-0.9634	9	.	.	.	-10.1321	18.3993	0.90510	0.0:1.0:0.0:0.0	.	178;178;178	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	H	178;178;178;49;178;122;122;151;122	ENSP00000381098:R178H;ENSP00000352780:R178H;ENSP00000286445:R178H;ENSP00000443006:R49H;ENSP00000446047:R178H;ENSP00000446024:R122H;ENSP00000446011:R122H;ENSP00000439124:R151H;ENSP00000438500:R122H	.	R	-	2	0	GRIP1	65197993	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.083000	0.76859	2.431000	0.82371	0.467000	0.42956	CGT		0.388	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66911726	C	T	66911726	3	4	43	1	0	0	0	0	1	0	0	0	6787	536	19	1	2773	1	GRIP1	12	66911726	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	9311219	66911726	66940169	57	2731											
METT11D1	64745	broad.mit.edu	37	chr14	21458199	21458199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtctactgacattaggaaGatggtgccccggccttggag	8	10	14	9	1	1	2	0	1	1	1	1	4	1	4	3	4	2	0	3	4	3	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:21458199G>C	ENST00000339374.6	+	1	271	c.38G>C	c.(37-39)aGa>aCa	p.R13T	METTL17_ENST00000382985.4_Missense_Mutation_p.R13T|METTL17_ENST00000556670.2_Missense_Mutation_p.R13T|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	13					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACATTAGGAAGATGGTGCCCC	0.617																																						uc001vyo.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(37-39)aGa>aCa		Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.							56	63	61					14																	21458199		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458199G>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.38G>C	14.37:g.21458199G>C	ENSP00000343041:p.Arg13Thr					METTL17_uc010tlk.2_Missense_Mutation_p.R13T|METTL17_uc001vym.3_Missense_Mutation_p.R13T|METTL17_uc001vyn.3_Missense_Mutation_p.R13T	p.R13T	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN			0	235	+			13					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.38G>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728035	0.69074	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.39056	1.24;1.1	5.55	5.55	0.83447	.	0.229118	0.33327	N	0.005033	T	0.59756	0.2217	L	0.54323	1.7	0.24707	N	0.993224	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.991;0.996	T	0.53760	-0.8393	10	0.59425	D	0.04	.	14.8648	0.70406	0.0:0.0:1.0:0.0	.	13;13;13;13	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;.;MET17_HUMAN;.	T	13	ENSP00000343041:R13T;ENSP00000372445:R13T	ENSP00000343041:R13T	R	+	2	0	METTL17	20528039	0.086000	0.21541	0.694000	0.30210	0.032000	0.12392	1.807000	0.38902	2.882000	0.98803	0.655000	0.94253	AGA		0.617	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		C	21458199	G	C	21458199	3	2	43	1	0	0	0	0	1	0	0	0	9491	942	33	5	40	5	METT11D1	14	21458199	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		21458199	85891341	58	2732											
METT11D1	64745	broad.mit.edu	37	chr14	21458453	21458453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccggtttcctgcagaagaGgcctcatcgccagcaccctg	7	8	11	15	2	1	2	1	0	0	2	4	2	3	2	5	2	2	3	5	2	1	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:21458453G>C	ENST00000339374.6	+	2	373	c.140G>C	c.(139-141)aGg>aCg	p.R47T	METTL17_ENST00000382985.4_Missense_Mutation_p.R47T|METTL17_ENST00000556670.2_Missense_Mutation_p.R47T|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	47					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTGCAGAAGAGGCCTCATCGC	0.587											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vyo.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(139-141)aGg>aCg		Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.							80	92	88					14																	21458453		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458453G>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.140G>C	14.37:g.21458453G>C	ENSP00000343041:p.Arg47Thr		OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	748	METTL17_uc010tlk.2_Missense_Mutation_p.R47T|METTL17_uc001vym.3_Missense_Mutation_p.R47T|METTL17_uc001vyn.3_Missense_Mutation_p.R47T	p.R47T	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN			1	337	+			47					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.140G>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340923	0.24339	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000536700;ENST00000554283	T;T	0.30714	1.55;1.52	6.07	-3.8	0.04307	.	0.723770	0.13760	N	0.364658	T	0.09512	0.0234	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.22003	0.063;0.005;0.0;0.0	B;B;B;B	0.18561	0.022;0.004;0.0;0.001	T	0.34976	-0.9807	10	0.15066	T	0.55	.	6.4081	0.21676	0.591:0.0:0.1955:0.2135	.	47;47;47;47	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;.;MET17_HUMAN;.	T	47;47;85;85	ENSP00000343041:R47T;ENSP00000372445:R47T	ENSP00000343041:R47T	R	+	2	0	METTL17	20528293	0.091000	0.21658	0.964000	0.40570	0.064000	0.16182	-0.426000	0.07008	-0.462000	0.06984	-0.182000	0.12963	AGG		0.587	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		C	21458453	G	C	21458453	3	2	43	1	0	0	0	0	1	0	0	0	9491	1000	35	5	146	5	METT11D1	14	21458453	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	254	21458453	85891087	59	2733											
GNG2	54331	broad.mit.edu	37	chr14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcctgacccctgttcCggcttcagaaaacccgttta	7	10	6	18	2	1	2	1	1	0	1	3	2	3	2	7	1	1	3	7	1	3	4	rs139067662		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:52433353C>T	ENST00000335281.4	+	3	570	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_ENST00000555472.1_Missense_Mutation_p.P55L|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556752.1_Missense_Mutation_p.P55L|GNG2_ENST00000553432.1_Missense_Mutation_p.P86L|GNG2_ENST00000556766.1_Missense_Mutation_p.P55L|RP11-463J10.3_ENST00000553603.1_RNA|GNG2_ENST00000557376.1_Missense_Mutation_p.P94L|GNG2_ENST00000554736.1_Missense_Mutation_p.P55L	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	55					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)	p.P55L(2)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527													c|||	1	0.000199681	0	0	5008	,	,		17773	0		0.001	False		,,,				2504	0					uc001wzi.3																			2	Substitution - Missense(2)	p.P55L(4)	upper_aerodigestive_tract(1)|lung(1)	lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(163-165)cCg>cTg		Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	Halothane(DB01159)						96	103	101					14																	52433353		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433353C>T	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.164C>T	14.37:g.52433353C>T	ENSP00000334448:p.Pro55Leu					GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P55L|GNG2_uc001wzj.3_Missense_Mutation_p.P55L|GNG2_uc001wzk.3_Missense_Mutation_p.P55L	p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN			3	721	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		55					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.164C>T	CCDS32082.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.1	4.248650	0.80024	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.03	4.14	0.48551	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52071	-0.8624	9	0.46703	T	0.11	-6.3716	13.934	0.64015	0.0:0.9251:0.0:0.0749	.	55	P59768	GBG2_HUMAN	L	86;94;55;55;55;55;55	ENSP00000451279:P86L;ENSP00000450758:P94L;ENSP00000334448:P55L;ENSP00000451102:P55L;ENSP00000451231:P55L;ENSP00000452014:P55L;ENSP00000451576:P55L	ENSP00000334448:P55L	P	+	2	0	GNG2	51503103	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.772000	0.85439	1.422000	0.47177	0.591000	0.81541	CCG		0.527	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1			T	52433353	C	T	52433353	3	4	43	1	0	0	0	0	1	0	0	0	6527	652	23	2	170	2	GNG2	14	52433353	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	30974900	52433353	54916187	60	2734											
LTBP2	4053	broad.mit.edu	37	chr14	74970199	74970199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgctgttcatgcagcGctgctggctgaggtccaggg	4	10	17	10	1	1	1	1	1	0	0	2	1	2	1	1	4	4	7	1	4	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:74970199G>A	ENST00000261978.4	-	32	5079	c.4693C>T	c.(4693-4695)Cgc>Tgc	p.R1565C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1521C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1565	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTCATGCAGCGCTGCTGGCTG	0.672																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4693-4695)Cgc>Tgc		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							44	36	39					14																	74970199		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74970199G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4693C>T	14.37:g.74970199G>A	ENSP00000261978:p.Arg1565Cys						p.R1565C	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	31	5080	-			1565			EGF-like 18; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4693C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222266	0.79464	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.82255	-1.59;-1.59	4.86	3.96	0.45880	EGF-like calcium-binding (1);	0.000000	0.42053	D	0.000774	D	0.89076	0.6612	M	0.72353	2.195	0.46521	D	0.999087	D	0.89917	1.0	D	0.71870	0.975	D	0.89494	0.3759	10	0.62326	D	0.03	.	12.2373	0.54522	0.0:0.0:0.6913:0.3087	.	1565	Q14767	LTBP2_HUMAN	C	1565;1521	ENSP00000261978:R1565C;ENSP00000451477:R1521C	ENSP00000261978:R1565C	R	-	1	0	LTBP2	74039952	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.193000	0.58385	1.246000	0.43901	0.561000	0.74099	CGC		0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	74970199	G	A	74970199	3	1	43	1	0	0	0	0	1	0	0	0	9074	1087	38	1	792	1	LTBP2	14	74970199	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	22536846	74970199	32379341	61	2735											
PSMC1	5700	broad.mit.edu	37	chr14	90736610	90736610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagcgcatctttcagattCacacaagcaggatgacgctg	13	8	10	10	2	3	3	2	1	1	2	3	4	3	4	0	1	2	3	0	1	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:90736610C>T	ENST00000261303.8	+	10	1205	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	PSMC1_ENST00000543772.2_Missense_Mutation_p.H295Y	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	368					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTTCAGATTCACACAAGCAG	0.502																																						uc001xyf.3																			0				endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6						c.(1102-1104)Cac>Tac		Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.							80	69	73					14																	90736610		2203	4297	6500	SO:0001583	missense	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90736610C>T	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.1102C>T	14.37:g.90736610C>T	ENSP00000261303:p.His368Tyr					PSMC1_uc001xyg.3_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.3_Missense_Mutation_p.H295Y	p.H368Y	NM_002802	NP_002793	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	1150	+		all_cancers(154;0.142)	368					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.1102C>T	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411983	0.83340	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94758	-3.51;-3.51	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97889	1.0296	10	0.62326	D	0.03	-15.1208	14.2789	0.66199	0.0:0.9281:0.0:0.0719	.	368	P62191	PRS4_HUMAN	Y	368;295	ENSP00000261303:H368Y;ENSP00000445147:H295Y	ENSP00000261303:H368Y	H	+	1	0	PSMC1	89806363	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.487000	0.81328	1.384000	0.46424	0.563000	0.77884	CAC		0.502	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		T	90736610	C	T	90736610	3	4	43	1	0	0	0	0	1	0	0	0	12685	826	29	3	1140	3	PSMC1	14	90736610	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	15766411	90736610	16612930	62	2736											
SERPINA3	12	broad.mit.edu	37	chr14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaccgagggacacacGtggacctcggattagcctcc	11	5	11	14	3	0	1	0	0	0	1	2	5	1	4	5	3	1	0	5	3	2	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:95080911G>A	ENST00000467132.1	+	2	1281	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V45M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V45M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	45					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V45M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572																																						uc001ydp.3																			1	Substitution - Missense(1)	p.V45M(2)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(133-135)Gtg>Atg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.							121	118	119					14																	95080911		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080911G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.133G>A	14.37:g.95080911G>A	ENSP00000450540:p.Val45Met					SERPINA3_uc001ydo.4_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.V45M|SERPINA3_uc001yds.3_Missense_Mutation_p.V45M	p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	1	292	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	45					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.133G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404725	0.42613	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.68	-0.036	0.13890	Serpin domain (1);	1.940150	0.03623	U	0.236685	T	0.81418	0.4818	N	0.19112	0.55	0.09310	N	1	D;P	0.53885	0.963;0.661	B;B	0.43809	0.432;0.154	T	0.72527	-0.4266	10	0.72032	D	0.01	.	10.9606	0.47383	0.0825:0.5309:0.3866:0.0	.	45;70	P01011;G3V5I3	AACT_HUMAN;.	M	70;45;45;45;45;45	ENSP00000452367:V70M;ENSP00000376793:V45M;ENSP00000376795:V45M;ENSP00000450540:V45M	ENSP00000369712:V45M	V	+	1	0	SERPINA3	94150664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.456000	0.06754	0.073000	0.16731	0.561000	0.74099	GTG		0.572	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		A	95080911	G	A	95080911	3	1	43	1	0	0	0	0	1	0	0	0	14090	1145	40	1	135	1	SERPINA3	14	95080911	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4344301	95080911	12268629	63	2737											
BCL11B	64919	broad.mit.edu	37	chr14	99642475	99642475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcagcaggaaccacGcgctgttgaagggctgcttg	7	8	15	11	3	0	1	0	1	0	0	0	2	0	2	1	2	5	7	1	2	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:99642475G>A	ENST00000357195.3	-	4	707	c.698C>T	c.(697-699)gCg>gTg	p.A233V	BCL11B_ENST00000443726.2_Missense_Mutation_p.A39V|BCL11B_ENST00000345514.2_Missense_Mutation_p.A162V	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	233					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGGAACCACGCGCTGTTGAA	0.617			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(697-699)gCg>gTg		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.							36	34	35					14																	99642475		2198	4298	6496	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642475G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.698C>T	14.37:g.99642475G>A	ENSP00000349723:p.Ala233Val					BCL11B_uc001ygb.3_Missense_Mutation_p.A162V	p.A233V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	965	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	233					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.698C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661377	0.67700	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.38077	1.16;1.69;1.33	4.68	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58509	0.2127	M	0.69523	2.12	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63314	-0.6665	10	0.66056	D	0.02	-17.5658	14.3543	0.66727	0.0:0.0:0.8504:0.1496	.	162;233	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	V	233;162;39	ENSP00000349723:A233V;ENSP00000280435:A162V;ENSP00000387419:A39V	ENSP00000280435:A162V	A	-	2	0	BCL11B	98712228	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	9.681000	0.98653	1.084000	0.41184	-0.181000	0.13052	GCG		0.617	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		A	99642475	G	A	99642475	3	1	43	1	0	0	0	0	1	0	0	0	1364	1087	38	1	1990	1	BCL11B	14	99642475	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4561564	99642475	7707065	64	2738											
HDC	3067	broad.mit.edu	37	chr15	50535347	50535347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggtattacctttagaCgaaaaaccaccaggccaagg	16	7	9	9	1	0	2	0	0	0	2	0	3	0	2	4	3	2	1	4	3	7	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr15:50535347C>T	ENST00000267845.3	-	11	1637	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.R379H	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TACCTTTAGACGAAAAACCAC	0.483																																					GBM(95;1627 1936 6910 9570)	uc001zxz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1234-1236)cGt>cAt		Homo sapiens histidine decarboxylase (HDC), mRNA.	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						77	75	75					15																	50535347		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50535347C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1235G>A	15.37:g.50535347C>T	ENSP00000267845:p.Arg412His					HDC_uc001zxy.3_Missense_Mutation_p.R155H|HDC_uc010uff.2_Missense_Mutation_p.R379H	p.R412H	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	10	1577	-		all_lung(180;0.0138)	412						Missense_Mutation	SNP	ENST00000267845.3	37	c.1235G>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662445	0.88251	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.46063	0.88;0.88	5.82	4.91	0.64330	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.306737	0.41001	N	0.000965	T	0.75932	0.3917	H	0.96996	3.92	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84849	0.0812	10	0.87932	D	0	-11.7372	14.8218	0.70080	0.0:0.9311:0.0:0.0689	.	379;412	B7ZM01;P19113	.;DCHS_HUMAN	H	412;379	ENSP00000267845:R412H;ENSP00000440252:R379H	ENSP00000267845:R412H	R	-	2	0	HDC	48322639	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.787000	0.69013	1.480000	0.48289	0.467000	0.42956	CGT		0.483	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			T	50535347	C	T	50535347	3	4	43	1	0	0	0	0	1	0	0	0	7015	536	19	1	761	1	HDC	15	50535347	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		50535347	51996045	65	2739											
CP110	9738	broad.mit.edu	37	chr16	19547973	19547973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtggacatacctataCgaactggccatcccactgtt	12	9	8	12	2	0	0	0	0	0	0	1	3	1	1	3	2	3	1	3	2	5	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:19547973C>T	ENST00000381396.5	+	4	1229	c.982C>T	c.(982-984)Cga>Tga	p.R328*	CCP110_ENST00000396208.2_Nonsense_Mutation_p.R328*|CCP110_ENST00000396212.2_Nonsense_Mutation_p.R328*	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	328					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATACCTATACGAACTGGCCA	0.373																																						uc002dgl.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(982-984)Cga>Tga		Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.							52	50	50					16																	19547973		2197	4300	6497	SO:0001587	stop_gained	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547973C>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.982C>T	16.37:g.19547973C>T	ENSP00000370803:p.Arg328*					CCP110_uc002dgk.4_Nonsense_Mutation_p.R328*	p.R328*	NM_001199022	NP_001185951	O43303	CP110_HUMAN			3	1229	+			328					B7WP23|O43335|Q68DV9|Q8NE13	Nonsense_Mutation	SNP	ENST00000381396.5	37	c.982C>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384298	0.82792	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	.	.	.	5.83	2.61	0.31194	.	1.306040	0.04977	N	0.465034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4014	10.4874	0.44731	0.2199:0.4243:0.3558:0.0	.	.	.	.	X	328	.	ENSP00000370803:R328X	R	+	1	2	CCP110	19455474	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.810000	0.27183	0.755000	0.32990	0.655000	0.94253	CGA		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		T	19547973	C	T	19547973	4	4	43	1	0	0	0	0	0	1	0	0	3788	528	19	1	992	1	CP110	16	19547973	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		19547973	70806780	66	2740											
CACNG3	10368	broad.mit.edu	37	chr16	24358110	24358110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgaagatgctgactaCgaacaggacacagccgaata	14	7	9	11	2	0	3	0	2	0	1	1	6	1	4	2	1	4	1	2	1	5	3	rs368528326		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:24358110C>T	ENST00000005284.3	+	2	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	89					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y89*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562																																						uc002dmf.3																			1	Substitution - Nonsense(1)	p.Y89*(2)|p.D88Y(1)	ovary(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(265-267)taC>taT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.		C		1,4393	2.1+/-5.4	0,1,2196	88	80	83		267	-8.5	0.5	16		83	0,8600		0,0,4300	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		89/316	24358110	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358110C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.267C>T	16.37:g.24358110C>T							p.Y89Y	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	1	1469	+			89						Silent	SNP	ENST00000005284.3	37	c.267C>T	CCDS10620.1																																																																																				0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24358110	C	T	24358110	2	4	43	1	0	0	0	0	0	0	0	1	2558	547	19	1		1	CACNG3	16	24358110	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	4810137	24358110	65996643	67	2741											
OGFOD1	55239	broad.mit.edu	37	chr16	56510097	56510097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggtttctgggactttTcattcatctattatgaatga	11	16	8	6	0	4	2	2	2	2	0	4	4	4	3	0	2	1	1	0	2	4	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:56510097T>C	ENST00000566157.1	+	13	1732	c.1609T>C	c.(1609-1611)Tca>Cca	p.S537P	OGFOD1_ENST00000568397.1_Missense_Mutation_p.S494P	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	537					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGACTTTTCATTCATCTA	0.418																																						uc002ejb.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1609-1611)Tca>Cca		Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	Vitamin C(DB00126)						50	48	49					16																	56510097		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56510097T>C	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1609T>C	16.37:g.56510097T>C	ENSP00000457258:p.Ser537Pro					OGFOD1_uc002ejc.3_Missense_Mutation_p.S397P	p.S537P	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			12	1710	+			537					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.1609T>C	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	T	19.26	3.794108	0.70452	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.68	3.24	0.37175	.	0.164767	0.56097	D	0.000032	T	0.49541	0.1563	L	0.59436	1.845	0.80722	D	1	P	0.48998	0.918	P	0.44561	0.453	T	0.46317	-0.9200	9	0.59425	D	0.04	-6.518	8.9582	0.35832	0.1186:0.0:0.4661:0.4154	.	537	Q8N543	OGFD1_HUMAN	P	537;381	.	ENSP00000337196:S537P	S	+	1	0	OGFOD1	55067598	0.998000	0.40836	0.987000	0.45799	0.962000	0.63368	2.491000	0.45303	0.319000	0.23209	0.528000	0.53228	TCA		0.418	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		C	56510097	T	C	56510097	3	2	43	1	0	0	0	0	1	0	0	0	10841	1783	62	4	1659	4	OGFOD1	16	56510097	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	32151987	56510097	33844656	68	2742											
MYH2	4620	broad.mit.edu	37	chr17	10428349	10428349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaactcaagctggatgcGcaggatctttccctcttcat	8	13	8	12	1	5	0	3	0	2	0	6	2	6	2	1	2	3	3	1	2	2	3	rs529367667	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:10428349G>A	ENST00000245503.5	-	34	5080	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1566C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1566					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATGCGCAGGATCTTT	0.408													g|||	2	0.000399361	0	0	5008	,	,		21940	0		0	False		,,,				2504	0.002					uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4696-4698)Cgc>Tgc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							90	91	91					17																	10428349		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428349G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4696C>T	17.37:g.10428349G>A	ENSP00000245503:p.Arg1566Cys					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1566C|MYH2_uc010coj.3_Intron	p.R1566C	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			33	4824	-			1566					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4696C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201875	0.58234	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84800	-1.9;-1.9	5.45	5.45	0.79879	Myosin tail (1);	0.181464	0.26460	U	0.024248	D	0.93455	0.7912	M	0.93678	3.445	0.58432	D	0.999999	D	0.69078	0.997	D	0.63283	0.913	D	0.94466	0.7680	10	0.87932	D	0	.	14.3218	0.66491	0.0:0.0:0.8518:0.1482	.	1566	Q9UKX2	MYH2_HUMAN	C	1566	ENSP00000245503:R1566C;ENSP00000380367:R1566C	ENSP00000245503:R1566C	R	-	1	0	MYH2	10369074	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.543000	0.53633	2.838000	0.97847	0.591000	0.81541	CGC		0.408	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10428349	G	A	10428349	3	1	43	1	0	0	0	0	1	0	0	0	10035	1087	38	1	1157	1	MYH2	17	10428349	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		10428349	70766861	69	2743											
XYLT2	64132	broad.mit.edu	37	chr17	48433460	48433460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtccttcttccacacGgtgctggagaacagcctggc	7	10	11	13	1	1	1	0	0	1	1	3	2	3	1	3	3	4	2	3	3	1	3	rs373704915		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:48433460G>A	ENST00000017003.2	+	7	1369	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	XYLT2_ENST00000507602.1_Silent_p.T440T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	440					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTTCCACACGGTGCTGGAGA	0.617																																						uc002iqo.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1318-1320)acG>acA		Homo sapiens xylosyltransferase II (XYLT2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	65	63	63		1320	-4.1	1	17		63	0,8600		0,0,4300	no	coding-synonymous	XYLT2	NM_022167.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		440/866	48433460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48433460G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1320G>A	17.37:g.48433460G>A						XYLT2_uc010dbo.3_Non-coding_Transcript	p.T440T	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			6	1429	+	Breast(11;7.18e-19)		440					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.1320G>A	CCDS11563.1																																																																																				0.617	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		A	48433460	G	A	48433460	2	1	43	1	0	0	0	0	0	0	0	1	17461	1103	39	2		2	XYLT2	17	48433460	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	38005111	48433460	32761750	70	2744											
VEZF1	7716	broad.mit.edu	37	chr17	56060219	56060219	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgggagagcttgtgtcgaTtgagatggtacacatctcgg	10	11	14	6	2	1	2	0	1	1	2	3	5	1	2	0	3	2	2	0	3	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:56060219T>C	ENST00000581208.1	-	2	609	c.569A>G	c.(568-570)aAt>aGt	p.N190S	VEZF1_ENST00000584396.1_Missense_Mutation_p.N181S	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	190					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTTGTGTCGATTGAGATGGTA	0.483																																						uc002ivf.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(568-570)aAt>aGt		Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.							86	73	77					17																	56060219		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060219T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.569A>G	17.37:g.56060219T>C	ENSP00000462337:p.Asn190Ser					VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	p.N190S	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			1	712	-			190						Missense_Mutation	SNP	ENST00000581208.1	37	c.569A>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.424126	0.43020	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	N	0.13098	0.295	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.26467	-1.0102	9	0.16420	T	0.52	-10.1481	15.5805	0.76432	0.0:0.0:0.0:1.0	.	190	Q14119	VEZF1_HUMAN	S	190	.	ENSP00000258963:N190S	N	-	2	0	VEZF1	53415218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.032000	0.88838	2.094000	0.63399	0.523000	0.50628	AAT		0.483	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			C	56060219	T	C	56060219	3	2	43	1	0	0	0	0	1	0	0	0	17152	1493	52	4	1016	4	VEZF1	17	56060219	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	7626759	56060219	25134991	71	2745											
QRICH2	84074	broad.mit.edu	37	chr17	74276228	74276228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgggtccagctccaggCggtccagctgtggcggggaa	6	7	16	12	2	1	0	1	0	0	0	4	1	4	1	3	6	2	2	3	6	1	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:74276228C>T	ENST00000262765.5	-	12	4315	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGCTCCAGGCGGTCCAGCTG	0.657																																						uc002jrd.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4135-4137)cGc>cAc		Homo sapiens glutamine rich 2 (QRICH2), mRNA.							40	47	44					17																	74276228		2200	4295	6495	SO:0001583	missense	84074						protein binding	g.chr17:74276228C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4136G>A	17.37:g.74276228C>T	ENSP00000262765:p.Arg1379His					QRICH2_uc010dgw.1_Missense_Mutation_p.R223H	p.R1379H	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			11	4316	-			1379					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4136G>A	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449094|4.449094	0.84101|0.84101	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000532549|ENST00000262765	.|T	.|0.12039	.|2.72	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	T|T	0.39064|0.39064	0.1064|0.1064	M|M	0.68317|0.68317	2.08|2.08	0.45554|0.45554	D|D	0.998508|0.998508	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.08351|0.08351	-1.0726|-1.0726	5|9	.|0.72032	.|D	.|0.01	-19.7287|-19.7287	19.1848|19.1848	0.93639|0.93639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1379	.|Q9H0J4	.|QRIC2_HUMAN	T|H	27|1379	.|ENSP00000262765:R1379H	.|ENSP00000262765:R1379H	A|R	-|-	1|2	0|0	QRICH2|QRICH2	71787823|71787823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.663000|4.663000	0.61532|0.61532	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.657	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74276228	C	T	74276228	3	4	43	1	0	0	0	0	1	0	0	0	12880	768	27	1	887	1	QRICH2	17	74276228	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	18216009	74276228	6918982	72	2746											
DSG3	1830	broad.mit.edu	37	chr18	29038537	29038537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaacataacagctatagtcGaccgggaggaaactccaagc	15	7	9	10	2	0	0	0	0	0	0	2	3	1	2	2	2	5	1	2	2	6	4	rs137884016	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:29038537G>A	ENST00000257189.4	+	4	429	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTATAGTCGACCGGGAGGA	0.443																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(346-348)Gac>Aac		Homo sapiens desmoglein 3 (DSG3), mRNA.		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	83	80	81		346	5.8	0.9	18	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DSG3	NM_001944.2	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	116/1000	29038537	2,13004	2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29038537G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.346G>A	18.37:g.29038537G>A	ENSP00000257189:p.Asp116Asn						p.D116N	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		3	455	+			116			Cadherin 1.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.346G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477191	0.84640	2.27E-4	1.16E-4	ENSG00000134757	ENST00000257189	T	0.63417	-0.04	5.77	5.77	0.91146	Cadherin (5);Cadherin-like (1);	0.000000	0.50627	D	0.000105	D	0.85813	0.5784	H	0.94808	3.585	0.50039	D	0.999842	D	0.89917	1.0	D	0.97110	1.0	D	0.88136	0.2841	10	0.59425	D	0.04	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	116	P32926	DSG3_HUMAN	N	116	ENSP00000257189:D116N	ENSP00000257189:D116N	D	+	1	0	DSG3	27292535	1.000000	0.71417	0.906000	0.35671	0.527000	0.34593	7.456000	0.80751	2.885000	0.99019	0.655000	0.94253	GAC		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29038537	G	A	29038537	3	1	43	1	0	0	0	0	1	0	0	0	4778	1058	37	2	360	2	DSG3	18	29038537	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		29038537	49038711	73	2747											
ALPK2	115701	broad.mit.edu	37	chr18	56203942	56203942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcttgtgcagcagatgtCgtaggcaaactttgttggaa	9	13	11	8	1	1	1	0	0	1	1	3	2	2	2	1	2	3	5	1	2	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:56203942C>T	ENST00000361673.3	-	5	3690	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1159						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGATGTCGTAGGCAAAC	0.567																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3475-3477)acG>acA		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							96	91	93					18																	56203942		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203942C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3477G>A	18.37:g.56203942C>T						ALPK2_uc002lhk.1_Silent_p.T490T	p.T1159T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	3691	-			1159					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.3477G>A	CCDS11966.2																																																																																				0.567	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56203942	C	T	56203942	2	4	43	1	0	0	0	0	0	0	0	1	545	871	31	2		2	ALPK2	18	56203942	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	27165405	56203942	21873306	74	2748											
MAP2K7	5609	broad.mit.edu	37	chr19	7975352	7975352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaaatgcggcgctcCgggaacaaggaggagaacaa	14	3	15	9	3	0	1	0	0	0	1	1	4	1	3	1	4	5	3	1	4	5	0	rs373551377		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:7975352C>T	ENST00000397979.3	+	5	516	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Silent_p.S154S|MAP2K7_ENST00000397983.3_Silent_p.S170S|MAP2K7_ENST00000545011.1_Silent_p.S196S	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGCGGCGCTCCGGGAACAAGG	0.632																																						uc002mit.3																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(460-462)tcC>tcT		Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	Etoposide(DB00773)	G		1,4239		0,1,2119	36	37	37		462	-9.1	0.9	19		37	1,8465		0,1,4232	no	coding-synonymous	MAP2K7	NM_145185.2		0,2,6351	TT,TC,CC		0.0118,0.0236,0.0157		154/420	7975352	2,12704	2120	4233	6353	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975352C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.462C>T	19.37:g.7975352C>T						MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.S29S|MAP2K7_uc010xkb.2_Silent_p.S154S	p.S154S	NM_145185	NP_660186	O14733	MP2K7_HUMAN			4	527	+			154			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.462C>T	CCDS42491.1																																																																																				0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			T	7975352	C	T	7975352	2	4	43	1	0	0	0	0	0	0	0	1	9242	639	23	2		2	MAP2K7	19	7975352	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		7975352	51153631	75	2749											
MUC16	94025	broad.mit.edu	37	chr19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggtgagatagttgtcGttgaaacagctgaactggct	11	12	12	6	1	1	3	1	3	0	1	2	4	1	3	0	2	3	4	0	2	4	4	rs111231164		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:9047027G>A	ENST00000397910.4	-	5	34807	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7168M(1)|p.T11535M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAGTTGTCGTTGAAACAGC	0.512																																						uc002mkp.3																			2	Substitution - Missense(2)	p.T7168M(1)|p.T11535M(1)	haematopoietic_and_lymphoid_tissue(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34603-34605)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							127	122	124					19																	9047027		2040	4188	6228	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047027G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34604C>T	19.37:g.9047027G>A	ENSP00000381008:p.Thr11535Met						p.T11535M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34808	-			11537			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34604C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.837	0.941290	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.6	0.296	0.15757	.	.	.	.	.	T	0.04003	0.0112	L	0.34521	1.04	.	.	.	D	0.76494	0.999	P	0.57324	0.818	T	0.40572	-0.9556	8	0.87932	D	0	.	5.4895	0.16769	0.3701:0.0:0.6299:0.0	.	11535	B5ME49	.	M	11535	ENSP00000381008:T11535M	ENSP00000381008:T11535M	T	-	2	0	MUC16	8908027	0.002000	0.14202	0.000000	0.03702	0.309000	0.27889	1.143000	0.31553	0.154000	0.19237	0.580000	0.79431	ACG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9047027	G	A	9047027	3	1	43	1	0	0	0	0	1	0	0	0	9973	1145	40	1	9239	1	MUC16	19	9047027	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	1071675	9047027	50081956	76	2750											
MRPS12	6183	broad.mit.edu	37	chr19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgcaagtgctgtcgagtgCggctcagcactggccgcgag	7	7	15	12	5	1	0	1	0	0	0	3	2	1	0	1	2	3	4	1	2	1	0	rs140018981	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:39423173C>T	ENST00000407800.2	+	2	591	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|SARS2_ENST00000594171.1_5'Flank|CTC-360G5.9_ENST00000599320.1_lincRNA|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000221431.6_5'Flank|SARS2_ENST00000600042.1_5'Flank	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	84					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662													C|||	2	0.000399361	0	0	5008	,	,		18414	0.002		0	False		,,,				2504	0					uc002okc.3																			0				endometrium(1)|large_intestine(1)	2						c.(250-252)Cgg>Tgg		Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							58	54	55					19																	39423173		2203	4299	6502	SO:0001583	missense	6183				translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:39423173C>T	Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"Mitochondrial ribosomal proteins / small subunits"	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.250C>T	19.37:g.39423173C>T	ENSP00000384952:p.Arg84Trp					SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.R84W|MRPS12_uc002oke.3_Missense_Mutation_p.R84W	p.R84W	NM_033362	NP_203527	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	560	+	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		84					Q53X98	Missense_Mutation	SNP	ENST00000407800.2	37	c.250C>T	CCDS12525.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	21.5	4.155882	0.78114	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.56611	0.45;0.45;0.45	6.07	5.03	0.67393	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054650	0.85682	D	0.000000	D	0.82462	0.5042	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89042	0.3449	10	0.87932	D	0	-32.1337	14.5652	0.68171	0.1473:0.8527:0.0:0.0	.	84	O15235	RT12_HUMAN	W	84	ENSP00000308845:R84W;ENSP00000384952:R84W;ENSP00000384579:R84W	ENSP00000308845:R84W	R	+	1	2	MRPS12	44115013	1.000000	0.71417	0.997000	0.53966	0.411000	0.31082	3.906000	0.56340	1.559000	0.49555	0.655000	0.94253	CGG		0.662	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			T	39423173	C	T	39423173	3	4	43	1	0	0	0	0	1	0	0	0	9823	759	27	1	256	1	MRPS12	19	39423173	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	30376146	39423173	19705810	77	2751											
ZNF546	339327	broad.mit.edu	37	chr19	40520966	40520969	+	Frame_Shift_Del	DEL	ACTC	ACTC	-																															ttagtcgtcgctataatcttActcaacattttaaaattcat																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:40520966_40520969delACTC	ENST00000347077.4	+	7	2005_2008	c.1789_1792delACTC	c.(1789-1794)actcaafs	p.TQ597fs	ZNF546_ENST00000600094.1_Frame_Shift_Del_p.TQ571fs|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATAATCTTACTCAACATTTTAA	0.353																																						uc002oms.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1789-1794)actcaafs		Homo sapiens zinc finger protein 546 (ZNF546), mRNA.																																				SO:0001589	frameshift_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520966_40520969delACTC	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1789_1792delACTC	19.37:g.40520966_40520969delACTC	ENSP00000339823:p.Thr597fs					ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs	p.T597fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			6	2045_2048	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		597					A8K913	Frame_Shift_Del	DEL	ENST00000347077.4	37	c.1789_1792delACTC	CCDS12548.1																																																																																				0.353	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		-	40520969	ACTC	-	40520966	7	5	43	1	0	1	0	1	0	0	0	0	17975	391	14	0	1807	0	ZNF546	19	40520966	Frame_Shift_Del	DEL	ACTC	TCGA-06-0209-01A-01D-1491-08	1097793	40520966	18608017	78	2752											
PSG5	5673	broad.mit.edu	37	chr19	43689122	43689122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaccgtctactacatatGatgtaatgtaatggtagagg	12	14	10	5	1	1	3	0	2	1	1	1	3	1	3	1	2	2	3	1	2	6	7	rs377094289		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:43689122G>A	ENST00000366175.3	-	2	372	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG5_ENST00000599812.1_Missense_Mutation_p.S81L|PSG5_ENST00000407356.1_Missense_Mutation_p.S81L|PSG5_ENST00000404580.1_Missense_Mutation_p.S81L|PSG5_ENST00000407568.1_Missense_Mutation_p.S81L|PSG5_ENST00000342951.6_Missense_Mutation_p.S81L|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	81	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TACTACATATGATGTAATGTA	0.433																																						uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(241-243)tCa>tTa		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.							256	246	250					19																	43689122		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689122G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.242C>T	19.37:g.43689122G>A	ENSP00000382334:p.Ser81Leu					PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S81L	p.S81L	NM_002781	NP_002772	Q15238	PSG5_HUMAN			1	373	-		Prostate(69;0.00899)	81			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.242C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	6.948	0.544716	0.13312	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50531	0.1621	L	0.31476	0.935	0.09310	N	1	B;B;B;P	0.36171	0.407;0.221;0.022;0.541	B;B;B;P	0.45343	0.405;0.216;0.029;0.477	T	0.49113	-0.8973	9	0.42905	T	0.14	.	4.3644	0.11218	0.2815:0.2107:0.5077:0.0	.	81;81;81;81	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	L	81	ENSP00000382334:S81L;ENSP00000386008:S81L;ENSP00000386053:S81L;ENSP00000344413:S81L;ENSP00000385250:S81L	ENSP00000344413:S81L	S	-	2	0	PSG5	48380962	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.223000	0.02962	-1.633000	0.01539	-0.478000	0.04885	TCA		0.433	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		A	43689122	G	A	43689122	3	1	43	1	0	0	0	0	1	0	0	0	12658	1294	45	3	781	3	PSG5	19	43689122	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3168156	43689122	15439861	79	2753											
XRCC1	7515	broad.mit.edu	37	chr19	44055781	44055781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacccactccttacgcaCgatgcggcctcccaggccta	8	6	8	19	3	0	0	0	0	0	0	2	1	2	0	5	2	3	2	5	2	2	2	rs2271980		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:44055781C>T	ENST00000262887.5	-	10	1688	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	XRCC1_ENST00000543982.1_Missense_Mutation_p.V350M|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	381	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors																														uc002owt.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1141-1143)Gtg>Atg	Other BER factors	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.							90	83	85					19																	44055781		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44055781C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1141G>A	19.37:g.44055781C>T	ENSP00000262887:p.Val381Met					XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	p.V381M	NM_006297	NP_006288	P18887	XRCC1_HUMAN			9	1261	-		Prostate(69;0.0153)	381			BRCT 1.		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1141G>A	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613421	0.87359	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	D;D	0.85629	-2.01;-2.01	5.16	4.11	0.48088	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.77557	0.889;0.99	D	0.91858	0.5497	10	0.72032	D	0.01	-22.7288	13.6093	0.62068	0.1567:0.8433:0.0:0.0	rs2271980;rs2271980	350;381	F5H8D7;P18887	.;XRCC1_HUMAN	M	395;381;350	ENSP00000262887:V381M;ENSP00000443671:V350M	ENSP00000262887:V381M	V	-	1	0	XRCC1	48747621	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	5.071000	0.64382	1.472000	0.48140	0.655000	0.94253	GTG		0.622	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		T	44055781	C	T	44055781	3	4	43	1	0	0	0	0	1	0	0	0	17449	536	19	1	792	1	XRCC1	19	44055781	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	366659	44055781	15073202	80	2754											
BPIL1	80341	broad.mit.edu	37	chr20	31606076	31606076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaaggcctcaaccccGtgggtcctgagtcccagatc	8	9	10	14	1	2	3	2	2	0	1	5	3	4	3	5	2	1	0	5	2	2	1	rs147688509	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:31606076G>A	ENST00000170150.3	+	8	784	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	197						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCTCAACCCCGTGGGTCCTGA	0.483													G|||	8	0.00159744	0.0053	0	5008	,	,		21074	0.001		0	False		,,,				2504	0					uc002wyj.3																			0											c.(589-591)Gtg>Atg		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.		G	MET/VAL	29,4377	35.2+/-66.4	0,29,2174	109	98	102		589	3	1	20	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	BPIFB2	NM_025227.1	21	0,32,6471	AA,AG,GG		0.0349,0.6582,0.246	probably-damaging	197/459	31606076	32,12974	2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606076G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.589G>A	20.37:g.31606076G>A	ENSP00000170150:p.Val197Met						p.V197M	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			7	783	+			197					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.589G>A	CCDS13210.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	19.31	3.802440	0.70682	0.006582	3.49E-4	ENSG00000078898	ENST00000170150	T	0.05447	3.44	5.01	2.99	0.34606	.	0.154659	0.31268	N	0.007942	T	0.08223	0.0205	L	0.34521	1.04	0.37087	D	0.899262	D	0.89917	1.0	D	0.73708	0.981	T	0.01966	-1.1238	10	0.87932	D	0	-19.837	6.107	0.20079	0.1005:0.1918:0.7078:0.0	.	197	Q8N4F0	BPIB2_HUMAN	M	197	ENSP00000170150:V197M	ENSP00000170150:V197M	V	+	1	0	BPIFB2	31069737	0.926000	0.31397	0.991000	0.47740	0.931000	0.56810	1.353000	0.34045	2.613000	0.88420	0.561000	0.74099	GTG		0.483	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		A	31606076	G	A	31606076	3	1	43	1	0	0	0	0	1	0	0	0	1491	1145	40	1	615	1	BPIL1	20	31606076	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		31606076	31419444	81	2755											
PIGU	128869	broad.mit.edu	37	chr20	33169458	33169460	+	In_Frame_Del	DEL	GAA	GAA	-																															acagcgatctggataaacatGaagaagatggggtgctccct																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:33169458_33169460delGAA	ENST00000374820.2	-	9	903_905	c.883_885delTTC	c.(883-885)ttcdel	p.F295del	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_In_Frame_Del_p.F315del			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	315					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGATAAACATGAAGAAGATGGGG	0.562																																						uc002xas.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(943-945)ttcdel		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.																																				SO:0001651	inframe_deletion	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33169458_33169460delGAA	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.883_885delTTC	20.37:g.33169461_33169463delGAA	ENSP00000363953:p.Phe295del					PIGU_uc010zul.2_In_Frame_Del_p.F315del|PIGU_uc002xat.3_In_Frame_Del_p.F295del	p.F315del	NM_080476	NP_536724	Q9H490	PIGU_HUMAN			9	1143_1145	-			315					Q7Z489|Q8N2F2	In_Frame_Del	DEL	ENST00000374820.2	37	c.943_945delTTC																																																																																					0.562	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		-	33169460	GAA	-	33169458	7	5	43	1	0	1	0	1	0	0	0	0	11900	1281	45	0	374	0	PIGU	20	33169458	In_Frame_Del	DEL	GAA	TCGA-06-0209-01A-01D-1491-08	1563382	33169458	29856062	82	2756											
RBM38	55544	broad.mit.edu	37	chr20	55968365	55968365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggtgcagcagctgcaccCcaccttgatccagcggactt	7	8	12	14	1	0	1	0	1	0	0	1	2	1	2	4	3	5	4	4	3	0	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:55968365C>G	ENST00000356208.5	+	3	567	c.392C>G	c.(391-393)cCc>cGc	p.P131R	RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000371219.2_Missense_Mutation_p.P50R|RBM38_ENST00000440234.2_Intron	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	131					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGCTGCACCCCACCTTGATC	0.597																																						uc010zzj.2																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(391-393)cCc>cGc		Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.							140	150	146					20																	55968365		2008	4158	6166	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55968365C>G	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"RNA binding motif (RRM) containing"	15818	protein-coding gene	gene with protein product		612428	"RNA-binding region (RNP1, RRM) containing 1"	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.392C>G	20.37:g.55968365C>G	ENSP00000348538:p.Pro131Arg					MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_Intron	p.P131R	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		2	576	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		131					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.392C>G	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990679	0.93106	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.20463	2.3;2.07	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.50684	-0.8799	10	0.72032	D	0.01	2.5392	17.4641	0.87627	0.0:1.0:0.0:0.0	.	131	Q9H0Z9	RBM38_HUMAN	R	131;50	ENSP00000348538:P131R;ENSP00000360263:P50R	ENSP00000345248:P108R	P	+	2	0	RBM38	55401771	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.064000	0.76721	2.191000	0.70037	0.655000	0.94253	CCC		0.597	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		G	55968365	C	G	55968365	3	3	43	1	0	0	0	0	1	0	0	0	13132	623	22	5	161	5	RBM38	20	55968365	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	22798907	55968365	7057155	83	2757											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869311	31869311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccgttgcctccaaagcCacagccataacccagtctgc	11	8	6	16	1	1	0	0	0	1	0	3	0	3	0	6	0	5	1	6	0	3	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr21:31869311C>T	ENST00000334058.2	-	1	140	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	40						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCCAAAGCCACAGCCATAA	0.527																																						uc011acz.2																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(118-120)Ggc>Agc		Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.							128	132	131					21																	31869311		2203	4300	6503	SO:0001583	missense	337971					intermediate filament		g.chr21:31869311C>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.118G>A	21.37:g.31869311C>T	ENSP00000335567:p.Gly40Ser						p.G40S	NM_181610	NP_853641	Q3LI73	KR194_HUMAN			0	118	-			40					Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	c.118G>A	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068458	0.36470	.	.	ENSG00000186967	ENST00000334058	T	0.33865	1.39	4.57	4.57	0.56435	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.23776	N	0.996878	D	0.71674	0.998	D	0.71414	0.973	T	0.48210	-0.9055	8	0.87932	D	0	.	13.0372	0.58879	0.0:1.0:0.0:0.0	.	40	Q3LI73	KR194_HUMAN	S	40	ENSP00000335567:G40S	ENSP00000335567:G40S	G	-	1	0	KRTAP19-4	30791182	0.660000	0.27420	0.937000	0.37676	0.649000	0.38597	3.142000	0.50601	2.535000	0.85469	0.585000	0.79938	GGC		0.527	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			T	31869311	C	T	31869311	3	4	43	1	0	0	0	0	1	0	0	0	8531	594	21	3	139	3	KRTAP19-4	21	31869311	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		31869311	16260584	84	2758											
KIAA2022	340533	broad.mit.edu	37	chrX	73963609	73963609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcactaataaaagtctcGaagtaaccccaatcctgatt	14	12	4	11	1	2	1	1	1	1	0	4	2	3	1	3	0	1	1	3	0	6	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:73963609G>A	ENST00000055682.6	-	3	1394	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	261					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAAAAGTCTCGAAGTAACCCC	0.393																																						uc004eby.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(781-783)ttC>ttT		Homo sapiens KIAA2022 (KIAA2022), mRNA.							122	113	116					X																	73963609		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963609G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.783C>T	X.37:g.73963609G>A							p.F261F	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	1400	-			261					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.783C>T	CCDS35337.1																																																																																				0.393	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73963609	G	A	73963609	2	1	43	1	0	0	0	0	0	0	0	1	8269	1049	37	2		2	KIAA2022	23	73963609	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08		73963609	81306951	85	2759											
NRK	203447	broad.mit.edu	37	chrX	105152945	105152945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggctcaggcacctcaaCgactacaaggggcagctcgg	10	4	14	13	2	2	0	2	0	0	0	3	1	2	0	1	6	3	5	1	6	3	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:105152945C>T	ENST00000243300.9	+	13	1615	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	NRK_ENST00000428173.2_Nonsense_Mutation_p.R439*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	438	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTCAACGACTACAAGG	0.557										HNSCC(51;0.14)																												uc004emd.3																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1312-1314)Cga>Tga		Homo sapiens Nik related kinase (NRK), mRNA.							39	41	40					X																	105152945		2056	4168	6224	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152945C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1312C>T	X.37:g.105152945C>T	ENSP00000434830:p.Arg438*	HNSCC(51;0.14)				NRK_uc010npc.1_Nonsense_Mutation_p.R106*	p.R438*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			12	1615	+			438			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.1312C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.343265	0.98224	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.49	1.58	0.23477	.	0.557677	0.14978	N	0.287426	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2705	0.20951	0.32:0.5859:0.0:0.0941	.	.	.	.	X	438;439	.	ENSP00000434830:R438X	R	+	1	2	NRK	105039601	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	-0.256000	0.08757	0.188000	0.20168	0.600000	0.82982	CGA		0.557	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105152945	C	T	105152945	4	4	43	1	0	0	0	0	0	1	0	0	10655	528	19	1	1362	1	NRK	23	105152945	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	31189336	105152945	50117615	86	2760											
SH2D1A	4068	broad.mit.edu	37	chrX	123504148	123504149	+	Frame_Shift_Ins	INS	-	-	A																															ttgagaagaagtcctcagctINSagaagtacacaaggtactac																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:123504148_123504149insA	ENST00000371139.4	+	3	623_624	c.324_325insA	c.(325-327)agafs	p.R109fs	SH2D1A_ENST00000360027.4_Frame_Shift_Ins_p.R109fs|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_3'UTR|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	109					cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTCCTCAGCTAGAAGTACACA	0.371																																						uc004euf.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(322-327)gctagafs		Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504148_123504149insA	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"SH2 domain containing"	10820	protein-coding gene	gene with protein product	"Duncan's disease"	300490	"lymphoproliferative syndrome", "SH2 domain protein 1A"	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.325dupA	X.37:g.123504149_123504149dupA	ENSP00000360181:p.Arg109fs					SH2D1A_uc004euh.4_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Non-coding_Transcript	p.A108fs	NM_002351	NP_002342	O60880	SH21A_HUMAN			2	685_686	+			108					A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Frame_Shift_Ins	INS	ENST00000371139.4	37	c.324_325insA	CCDS14608.1																																																																																				0.371	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		A	123504149	-	A	123504148	7	5	43	1	0	1	1	0	0	0	0	0	14230	1509	53	0	334	0	SH2D1A	23	123504148	Frame_Shift_Ins	INS	-	TCGA-06-0209-01A-01D-1491-08	18351203	123504148	31766412	87	2761											
COL8A2	1296	broad.mit.edu	37	chr1	36565672	36565672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtactggcctttgccctCacggaagggcggtcccacag	7	7	13	14	2	1	0	1	0	0	0	2	1	2	1	3	5	2	1	3	5	2	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:36565672C>T	ENST00000397799.1	-	3	396	c.172G>A	c.(172-174)Gag>Aag	p.E58K	COL8A2_ENST00000303143.4_Missense_Mutation_p.E58K|COL8A2_ENST00000481785.1_Intron			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	58	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTTGCCCTCACGGAAGGGC	0.662											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzv.2																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(172-174)Gag>Aag		Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.							61	59	60					1																	36565672		2203	4300	6503	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36565672C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.172G>A	1.37:g.36565672C>T	ENSP00000380901:p.Glu58Lys		OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863	COL8A2_uc001bzw.2_Intron	p.E58K	NM_005202	NP_005193	P25067	CO8A2_HUMAN			0	179	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	58			Nonhelical region (NC2).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.172G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774202	0.69992	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.91180	-2.8;-2.8	4.37	4.37	0.52481	.	0.122714	0.53938	D	0.000059	D	0.86990	0.6066	N	0.05050	-0.12	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.82723	-0.0316	10	0.07325	T	0.83	.	14.8617	0.70387	0.0:1.0:0.0:0.0	.	58	P25067	CO8A2_HUMAN	K	58	ENSP00000305913:E58K;ENSP00000380901:E58K	ENSP00000305913:E58K	E	-	1	0	COL8A2	36338259	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	5.066000	0.64351	2.282000	0.76494	0.491000	0.48974	GAG		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		T	36565672	C	T	36565672	3	4	44	1	0	0	0	0	1	0	0	0	3706	835	29	3	1947	3	COL8A2	1	36565672	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		36565672	212684949	1	2762											
CYP4A11	1579	broad.mit.edu	37	chr1	47406941	47406941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgaagagccagtgggaGggagggcacgggaactgctg	9	4	19	9	2	0	1	0	0	0	1	0	5	0	4	2	4	4	2	2	4	2	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:47406941G>A	ENST00000310638.4	-	1	196	c.165C>T	c.(163-165)ccC>ccT	p.P55P	CYP4A11_ENST00000371905.1_Silent_p.P55P|CYP4A11_ENST00000371904.4_Silent_p.P55P|CYP4A11_ENST00000462347.1_Silent_p.P55P|CYP4A11_ENST00000457840.2_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	55					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCAGTGGGAGGGAGGGCACG	0.597																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(163-165)ccC>ccT		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						64	57	59					1																	47406941		2203	4298	6501	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47406941G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.165C>T	1.37:g.47406941G>A						CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_Non-coding_Transcript	p.P55P	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			0	216	-			55					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.165C>T	CCDS543.1																																																																																				0.597	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		A	47406941	G	A	47406941	2	1	44	1	0	0	0	0	0	0	0	1	4183	987	35	3		3	CYP4A11	1	47406941	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	10841269	47406941	201843680	2	2763											
LHX8	431707	broad.mit.edu	37	chr1	75614357	75614357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaggcttgagcagacGtgtgatacaggtgattactt	12	10	13	6	1	0	4	0	3	0	1	0	5	0	5	0	3	3	2	0	3	3	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:75614357G>A	ENST00000294638.5	+	8	1464	c.800G>A	c.(799-801)cGt>cAt	p.R267H	LHX8_ENST00000356261.3_Missense_Mutation_p.R257H	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	267					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGAGCAGACGTGTGATACAG	0.383																																						uc001dgo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(799-801)cGt>cAt		Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.							157	153	154					1																	75614357		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75614357G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.800G>A	1.37:g.75614357G>A	ENSP00000294638:p.Arg267His					LHX8_uc001dgq.3_Missense_Mutation_p.R206H	p.R267H	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			7	1464	+			267					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.800G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089784	0.94149	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.96802	-4.13;-4.13	5.55	5.55	0.83447	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	267	Q68G74	LHX8_HUMAN	H	267;257	ENSP00000294638:R267H;ENSP00000348597:R257H	ENSP00000294638:R267H	R	+	2	0	LHX8	75386945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.439000	0.97543	2.767000	0.95098	0.563000	0.77884	CGT		0.383	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		A	75614357	G	A	75614357	3	1	44	1	0	0	0	0	1	0	0	0	8776	1145	40	1	826	1	LHX8	1	75614357	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	28207416	75614357	173636264	3	2764											
MCOLN2	255231	broad.mit.edu	37	chr1	85422200	85422200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcttacagacttttaagCcaattctattgtcttcattt	9	18	5	9	0	3	1	1	0	2	1	3	1	3	1	1	0	3	2	1	0	4	8			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:85422200C>T	ENST00000370608.3	-	4	546	c.479G>A	c.(478-480)gGc>gAc	p.G160D	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.G132D	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	160					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACTTTTAAGCCAATTCTATT	0.373																																						uc001dkm.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(478-480)gGc>gAc		Homo sapiens mucolipin 2 (MCOLN2), mRNA.							213	205	208					1																	85422200		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85422200C>T	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.479G>A	1.37:g.85422200C>T	ENSP00000359640:p.Gly160Asp					MCOLN2_uc001dkn.3_Non-coding_Transcript	p.G160D	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	3	720	-			160					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.479G>A	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470862	0.43942	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.61158	0.13;0.13	5.16	4.24	0.50183	.	0.178876	0.49916	D	0.000138	T	0.52948	0.1766	M	0.73598	2.24	0.49687	D	0.999819	D	0.54047	0.964	P	0.46629	0.522	T	0.60772	-0.7197	10	0.49607	T	0.09	-40.8037	15.652	0.77104	0.0:0.862:0.138:0.0	.	160	Q8IZK6	MCLN2_HUMAN	D	160;132	ENSP00000359640:G160D;ENSP00000284027:G132D	ENSP00000284027:G132D	G	-	2	0	MCOLN2	85194788	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.130000	0.31393	1.290000	0.44636	0.650000	0.86243	GGC		0.373	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		T	85422200	C	T	85422200	3	4	44	1	0	0	0	0	1	0	0	0	9396	739	26	3	1265	3	MCOLN2	1	85422200	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	9807843	85422200	163828421	4	2765											
COL24A1	255631	broad.mit.edu	37	chr1	86289377	86289379	+	In_Frame_Del	DEL	TTG	TTG	-																															tcaaaacatactgggggtccTtgttgtccagtggcacctct																										TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:86289377_86289379delTTG	ENST00000370571.2	-	44	4090_4092	c.3724_3726delCAA	c.(3724-3726)caadel	p.Q1242del	COL24A1_ENST00000436319.1_In_Frame_Del_p.Q1242del	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1242	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGGGGTCCTTGTTGTCCAGTG	0.34																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3724-3726)caadel		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.																																				SO:0001651	inframe_deletion	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86289377_86289379delTTG	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3724_3726delCAA	1.37:g.86289380_86289382delTTG	ENSP00000359603:p.Gln1242del					COL24A1_uc001dli.3_In_Frame_Del_p.Q378del|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.Q1242del	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	43	3799_3801	-			1242			Collagen-like 13.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	In_Frame_Del	DEL	ENST00000370571.2	37	c.3724_3726delCAA	CCDS41353.1																																																																																				0.34	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		-	86289379	TTG	-	86289377	7	5	44	1	0	1	0	1	0	0	0	0	3683	1606	56	0	1486	0	COL24A1	1	86289377	In_Frame_Del	DEL	TTG	TCGA-06-0213-01A-01D-1491-08	867177	86289377	162961244	5	2766											
ACP6	51205	broad.mit.edu	37	chr1	147131584	147131584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcttcctcagtctctctcCcaaggcaaacatttgctgca	8	13	6	14	0	4	0	1	0	3	0	7	0	5	0	2	1	3	4	2	1	2	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:147131584C>T	ENST00000369238.6	-	3	853	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ACP6_ENST00000392988.2_Missense_Mutation_p.G136R	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	136	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTCTCTCTCCCAAGGCAAAC	0.483																																						uc001epr.2																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16						c.(406-408)Gga>Aga		Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.							122	111	115					1																	147131584		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131584C>T	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.406G>A	1.37:g.147131584C>T	ENSP00000358241:p.Gly136Arg					ACP6_uc009wjj.1_Missense_Mutation_p.G93R	p.G136R	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			2	870	-	all_hematologic(923;0.0276)		136					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.406G>A	CCDS928.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648756	0.87958	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	D;D	0.86497	-2.13;-2.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95583	0.8648	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	136;136	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	R	136	ENSP00000358241:G136R;ENSP00000376714:G136R	ENSP00000358241:G136R	G	-	1	0	ACP6	145598208	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.015000	0.76387	2.656000	0.90262	0.655000	0.94253	GGA		0.483	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		T	147131584	C	T	147131584	3	4	44	1	0	0	0	0	1	0	0	0	165	632	22	3	912	3	ACP6	1	147131584	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	60842207	147131584	102119037	6	2767											
FLG	2312	broad.mit.edu	37	chr1	152275520	152275520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actagaactgtgaggactgcCacgtgactgtattcctgagt	10	11	11	9	1	0	4	0	3	0	1	1	5	1	5	2	1	2	1	2	1	3	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:152275520C>A	ENST00000368799.1	-	3	11877	c.11842G>T	c.(11842-11844)Ggc>Tgc	p.G3948C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3948	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGGACTGCCACGTGACTGT	0.438									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11842-11844)Ggc>Tgc		Homo sapiens filaggrin (FLG), mRNA.							150	140	143					1																	152275520		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275520C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11842G>T	1.37:g.152275520C>A	ENSP00000357789:p.Gly3948Cys						p.G3948C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11878	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3948			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11842G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341837	0.05243	.	.	ENSG00000143631	ENST00000368799	T	0.00873	5.59	2.39	-4.77	0.03219	.	.	.	.	.	T	0.00271	0.0008	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.41179	-0.9523	9	0.52906	T	0.07	.	2.7928	0.05393	0.34:0.237:0.0:0.4229	.	3948	P20930	FILA_HUMAN	C	3948	ENSP00000357789:G3948C	ENSP00000357789:G3948C	G	-	1	0	FLG	150542144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.067000	0.01383	-1.807000	0.01236	-1.506000	0.00953	GGC		0.438	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152275520	C	A	152275520	3	1	44	1	0	0	0	0	1	0	0	0	5922	594	21	5	347	5	FLG	1	152275520	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5143936	152275520	96975101	7	2768											
SH2D1B	117157	broad.mit.edu	37	chr1	162368720	162368720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagagattttaccacaaatGtttccaactctaatttcaat	14	15	4	8	0	2	2	1	1	1	1	3	3	3	2	2	0	2	1	2	0	5	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:162368720G>A	ENST00000367929.2	-	3	465	c.356C>T	c.(355-357)aCa>aTa	p.T119I	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	119					leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACCACAAATGTTTCCAACTC	0.393																																						uc001gbz.1																			0		p.T119T(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(355-357)aCa>aTa		Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.							85	80	82					1																	162368720		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368720G>A	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.356C>T	1.37:g.162368720G>A	ENSP00000356906:p.Thr119Ile					SH2D1B_uc001gca.1_Intron	p.T119I	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	478	-	all_hematologic(112;0.115)		119					B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.356C>T	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414874	0.11870	.	.	ENSG00000198574	ENST00000367929	T	0.81163	-1.46	4.47	0.489	0.16854	.	2.144800	0.03176	N	0.171360	T	0.36166	0.0957	N	0.04508	-0.205	0.22684	N	0.99886	B	0.06786	0.001	B	0.04013	0.001	T	0.22836	-1.0205	9	0.32370	T	0.25	-53.2558	3.0729	0.06236	0.4144:0.2418:0.3439:0.0	.	119	O14796	SH21B_HUMAN	I	119	ENSP00000356906:T119I	ENSP00000356906:T119I	T	-	2	0	SH2D1B	160635344	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.480000	0.06559	0.322000	0.23283	0.655000	0.94253	ACA		0.393	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		A	162368720	G	A	162368720	3	1	44	1	0	0	0	0	1	0	0	0	14231	1377	48	3	50	3	SH2D1B	1	162368720	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	10093200	162368720	86881901	8	2769											
MYOC	4653	broad.mit.edu	37	chr1	171621317	171621317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaactgacttgtctcggagGaggttgctgtaggcagtctc	8	11	14	8	1	2	2	0	1	2	1	4	4	2	4	0	4	2	4	0	4	2	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:171621317G>T	ENST00000037502.6	-	1	506	c.435C>A	c.(433-435)ctC>ctA	p.L145L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	145					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTCTCGGAGGAGGTTGCTGT	0.577																																						uc001ghu.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(433-435)ctC>ctA		Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.							119	130	126					1																	171621317		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621317G>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.435C>A	1.37:g.171621317G>T						MYOC_uc010pmk.2_Silent_p.L87L	p.L145L	NM_000261	NP_000252	Q99972	MYOC_HUMAN			0	457	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		145					B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.435C>A	CCDS1297.1																																																																																				0.577	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		T	171621317	G	T	171621317	2	4	44	1	0	0	0	0	0	0	0	1	10086	1161	41	5		5	MYOC	1	171621317	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	9252597	171621317	77629304	9	2770											
RBBP5	5929	broad.mit.edu	37	chr1	205065948	205065948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtttggactgcatccgGtggggggccgtaaggatttt	6	11	18	6	2	0	0	0	0	0	0	1	3	1	3	2	8	1	3	2	8	1	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:205065948G>A	ENST00000264515.6	-	12	1399	c.1258C>T	c.(1258-1260)Ccg>Tcg	p.P420S	RBBP5_ENST00000367164.1_Missense_Mutation_p.P420S	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	420					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCATCCGGTGGGGGGCCG	0.498																																						uc010prd.2																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1363-1365)Ccg>Tcg		Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.							122	129	126					1																	205065948		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065948G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1258C>T	1.37:g.205065948G>A	ENSP00000264515:p.Pro420Ser					RBBP5_uc010pre.2_Missense_Mutation_p.P293S|RBBP5_uc001hbu.2_Missense_Mutation_p.P420S|RBBP5_uc001hbv.2_Missense_Mutation_p.P420S	p.P455S	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1644	-	Breast(84;0.0505)		420					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.1363C>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900551	0.52227	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.57595	0.39;0.42	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.40543	1.245	0.80722	D	1	P;B;B;P	0.36990	0.519;0.06;0.037;0.577	B;B;B;B	0.31495	0.131;0.022;0.017;0.085	T	0.35500	-0.9786	10	0.07813	T	0.8	.	19.59	0.95506	0.0:0.0:1.0:0.0	.	293;455;420;420	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	S	420	ENSP00000264515:P420S;ENSP00000356132:P420S	ENSP00000264515:P420S	P	-	1	0	RBBP5	203332571	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.443000	0.97568	2.727000	0.93392	0.655000	0.94253	CCG		0.498	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		A	205065948	G	A	205065948	3	1	44	1	0	0	0	0	1	0	0	0	13102	1261	44	3	370	3	RBBP5	1	205065948	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	33444631	205065948	44184673	10	2771											
SYT14	255928	broad.mit.edu	37	chr1	210267700	210267700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgagaagaacaccccCgctggatgaattgcagccac	14	5	11	11	1	0	4	0	2	0	3	0	7	0	5	3	1	3	2	3	1	4	1	rs77686387	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:210267700C>T	ENST00000472886.1	+	5	490	c.476C>T	c.(475-477)cCg>cTg	p.P159L	SYT14_ENST00000367015.1_Missense_Mutation_p.P121L|SYT14_ENST00000537238.1_Missense_Mutation_p.P121L|SYT14_ENST00000367019.1_Missense_Mutation_p.P159L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.P159L|SYT14_ENST00000422431.1_Missense_Mutation_p.P204L|SYT14_ENST00000534859.1_Missense_Mutation_p.P159L			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	159					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGAACACCCCCGCTGGATGAA	0.428													C|||	11	0.00219649	0	0	5008	,	,		17284	0.0089		0.001	False		,,,				2504	0.001					uc001hhs.4																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(610-612)cCg>cTg		Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	75	79	78		611,476,611,476	5.6	1	1	dbSNP_132	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	SYT14	NM_001146261.1,NM_001146262.1,NM_001146264.1,NM_153262.2	98,98,98,98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	204/620,159/575,204/601,159/556	210267700	2,13004	2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267700C>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.476C>T	1.37:g.210267700C>T	ENSP00000418901:p.Pro159Leu					SYT14_uc001hht.4_Missense_Mutation_p.P159L|SYT14_uc010psn.2_Missense_Mutation_p.P204L|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.P121L|SYT14_uc009xcv.3_Missense_Mutation_p.P159L	p.P204L	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	5	669	+			159					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.611C>T	CCDS31014.1	4	0.0018315018315018315	0	0.0	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	26.1	4.708507	0.89018	0.0	2.33E-4	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.17854	3.39;3.25;2.25;3.53;3.26;3.52;3.53	5.62	5.62	0.85841	.	0.113614	0.64402	D	0.000011	T	0.20414	0.0491	M	0.61703	1.905	0.80722	D	1	P;B;D;D	0.62365	0.875;0.035;0.989;0.991	B;B;P;P	0.49708	0.083;0.004;0.477;0.62	T	0.01652	-1.1303	10	0.17832	T	0.49	-12.6577	17.813	0.88622	0.0:1.0:0.0:0.0	.	187;159;159;204	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	L	204;159;159;121;159;159;121	ENSP00000389039:P204L;ENSP00000442891:P159L;ENSP00000445837:P159L;ENSP00000437423:P121L;ENSP00000355986:P159L;ENSP00000418901:P159L;ENSP00000355982:P121L	ENSP00000355982:P121L	P	+	2	0	SYT14	208334323	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.608000	0.67654	2.650000	0.89964	0.591000	0.81541	CCG		0.428	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		T	210267700	C	T	210267700	3	4	44	1	0	0	0	0	1	0	0	0	15467	652	23	2	633	2	SYT14	1	210267700	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5201752	210267700	38982921	11	2772											
TTC15	51112	broad.mit.edu	37	chr2	3392024	3392024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagcctcagcacgttcttCggagacacggccgccagcca	8	5	10	18	4	2	1	1	0	1	1	3	2	2	1	5	2	3	2	5	2	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:3392024C>T	ENST00000324266.5	+	2	825	c.630C>T	c.(628-630)ttC>ttT	p.F210F	TRAPPC12_ENST00000382110.2_Silent_p.F210F	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	210					vesicle-mediated transport (GO:0016192)												GCACGTTCTTCGGAGACACGG	0.677																																						uc002qxm.1																			0											c.(628-630)ttC>ttT		Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.							32	38	36					2																	3392024		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3392024C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.630C>T	2.37:g.3392024C>T						TRAPPC12_uc002qxn.1_Silent_p.F210F|TRAPPC12_uc010ewm.1_Silent_p.F210F	p.F210F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN			1	836	+			210					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.630C>T	CCDS1652.1																																																																																				0.677	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3392024	C	T	3392024	2	4	44	1	0	0	0	0	0	0	0	1	16679	883	31	2		2	TTC15	2	3392024	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		3392024	239807349	12	2773											
GREB1	9687	broad.mit.edu	37	chr2	11706613	11706613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacccctcctagggttttgCcaggccgggaaggacctgcg	6	7	13	15	2	0	0	0	0	0	0	1	2	1	2	7	4	2	1	7	4	2	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:11706613C>T	ENST00000381486.2	+	4	585	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GREB1_ENST00000381483.2_Silent_p.C95C|GREB1_ENST00000234142.5_Silent_p.C95C|GREB1_ENST00000263834.5_Silent_p.C95C|GREB1_ENST00000389825.3_5'UTR	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	95						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TAGGGTTTTGCCAGGCCGGGA	0.642																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(283-285)tgC>tgT		Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.							47	47	47					2																	11706613		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11706613C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.285C>T	2.37:g.11706613C>T						GREB1_uc002rbl.3_Silent_p.C95C|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C	p.C95C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	3	585	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		95					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.285C>T	CCDS42655.1																																																																																				0.642	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11706613	C	T	11706613	2	4	44	1	0	0	0	0	0	0	0	1	6760	747	26	3		3	GREB1	2	11706613	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	8314589	11706613	231492760	13	2774											
BUB1	699	broad.mit.edu	37	chr2	111408233	111408233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcagtgtctgtgagtctgCaagcctcaacgcccaactct	8	10	9	14	2	5	1	2	1	3	0	5	1	5	1	2	0	4	1	2	0	3	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:111408233C>T	ENST00000302759.6	-	18	2211	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	BUB1_ENST00000535254.1_Missense_Mutation_p.C678Y|BUB1_ENST00000409311.1_Missense_Mutation_p.C698Y	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	698					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTGAGTCTGCAAGCCTCAAC	0.532																																						uc002tgc.3																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2092-2094)tGc>tAc		Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.							106	76	86					2																	111408233		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111408233C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2093G>A	2.37:g.111408233C>T	ENSP00000302530:p.Cys698Tyr					BUB1_uc010yxh.2_Missense_Mutation_p.C678Y|BUB1_uc010fkb.3_Missense_Mutation_p.C698Y	p.C698Y	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	17	2205	-		Ovarian(717;0.0822)	698					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2093G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	2.809	-0.247304	0.05867	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.31510	2.24;1.49;2.5	5.18	2.62	0.31277	.	0.422043	0.30210	N	0.010152	T	0.20007	0.0481	L	0.55481	1.735	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.11329	0.006;0.004;0.004	T	0.37314	-0.9711	10	0.02654	T	1	-1.0035	4.4399	0.11568	0.1846:0.6464:0.0:0.169	.	678;698;698	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Y	678;698;698;698	ENSP00000441013:C678Y;ENSP00000386701:C698Y;ENSP00000302530:C698Y	ENSP00000302530:C698Y	C	-	2	0	BUB1	111124705	0.429000	0.25530	0.005000	0.12908	0.077000	0.17291	0.633000	0.24598	0.397000	0.25310	0.650000	0.86243	TGC		0.532	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		T	111408233	C	T	111408233	3	4	44	1	0	0	0	0	1	0	0	0	1570	710	25	3	1196	3	BUB1	2	111408233	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	99701620	111408233	131791140	14	2775											
SCN9A	6335	broad.mit.edu	37	chr2	167055444	167055444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttgccttaagcggtaaCgtctataagcacgctgaatg	11	12	9	9	3	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	5	6	rs180949263		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:167055444C>G	ENST00000409435.1	-	26	5704	c.5705G>C	c.(5704-5706)cGt>cCt	p.R1902P	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1903P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1903P|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1891P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1902	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGCGGTAACGTCTATAAGC	0.363																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5671-5673)cGt>cCt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						165	171	169					2																	167055444		2161	4280	6441	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055444C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5705G>C	2.37:g.167055444C>G	ENSP00000386330:p.Arg1902Pro					BC051759_uc002udp.3_Intron	p.R1891P	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	6013	-			1902			IQ.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5672G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172160	0.38315	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96491	-4.0;-4.03;-4.03;-4.03	6.08	3.34	0.38264	.	0.183937	0.39544	N	0.001334	D	0.95872	0.8656	M	0.66939	2.045	0.42059	D	0.991154	P	0.46912	0.886	P	0.49637	0.617	D	0.94942	0.8092	10	0.62326	D	0.03	.	10.3652	0.44019	0.0:0.7962:0.0:0.2038	.	1891	E7EUN6	.	P	1891;1903;1903;1902	ENSP00000386306:R1891P;ENSP00000364536:R1903P;ENSP00000304748:R1903P;ENSP00000386330:R1902P	ENSP00000304748:R1903P	R	-	2	0	SCN9A	166763690	0.000000	0.05858	0.998000	0.56505	0.610000	0.37248	-0.006000	0.12833	0.928000	0.37168	-0.186000	0.12905	CGT		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		G	167055444	C	G	167055444	3	3	44	1	0	0	0	0	1	0	0	0	13925	536	19	5	265	5	SCN9A	2	167055444	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	55647211	167055444	76143929	15	2776											
COL3A1	1281	broad.mit.edu	37	chr2	189868848	189868848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaggagagaagggatcGcctggtgcccagggcccacc	10	3	14	14	1	0	1	0	0	0	1	1	4	0	3	5	4	2	0	5	4	2	0	rs113870310	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:189868848G>A	ENST00000304636.3	+	39	2972	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S934S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGAAGGGATCGCCTGGTGCCC	0.488													g|||	2	0.000399361	0	0	5008	,	,		14549	0		0.002	False		,,,				2504	0					uc002uqj.1																			1	Substitution - coding silent(1)	p.S934S(2)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2800-2802)tcG>tcA		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						31	36	34					2																	189868848		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868848G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2802G>A	2.37:g.189868848G>A							p.S934S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		38	2919	+			934			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.2802G>A	CCDS2297.1																																																																																				0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189868848	G	A	189868848	2	1	44	1	0	0	0	0	0	0	0	1	3688	1074	38	1		1	COL3A1	2	189868848	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	22813404	189868848	53330525	16	2777											
NBEAL1	65065	broad.mit.edu	37	chr2	204037528	204037528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatttcgagatctttccaAaccaattggggtagttaatg	11	15	9	6	1	1	1	0	0	1	1	3	2	2	1	2	2	1	3	2	2	5	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:204037528A>G	ENST00000449802.1	+	40	6521	c.6188A>G	c.(6187-6189)aAa>aGa	p.K2063R		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2063	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATCTTTCCAAACCAATTGGG	0.328																																						uc002uzt.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6187-6189)aAa>aGa		Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.							133	125	127					2																	204037528		1800	4070	5870	SO:0001583	missense	65065						binding	g.chr2:204037528A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6188A>G	2.37:g.204037528A>G	ENSP00000399903:p.Lys2063Arg					NBEAL1_uc021vvj.1_Missense_Mutation_p.K766R	p.K2063R	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			39	6521	+			2063			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.6188A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999443	0.93227	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.82433	-1.61;-1.61	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.90396	0.4399	10	0.66056	D	0.02	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	2063;2052	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	R	2063;2063;78	ENSP00000399903:K2063R;ENSP00000388466:K78R	ENSP00000344985:K2063R	K	+	2	0	NBEAL1	203745773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	AAA		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	204037528	A	G	204037528	3	3	44	1	0	0	0	0	1	0	0	0	10188	14	1	4	6342	4	NBEAL1	2	204037528	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	14168680	204037528	39161845	17	2778											
FGD5	152273	broad.mit.edu	37	chr3	14960268	14960268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggttttccaggtcagccGccctgtgatggagaaagtgc	7	11	14	9	1	1	2	1	1	0	1	2	3	2	2	3	3	2	2	3	3	1	3	rs536923009		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:14960268G>A	ENST00000285046.5	+	13	3607	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.R925H|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1166	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGTCAGCCGCCCTGTGATG	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		16072	0		0	False		,,,				2504	0					uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3496-3498)cGc>cAc		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							87	86	86					3																	14960268		2008	4167	6175	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14960268G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3497G>A	3.37:g.14960268G>A	ENSP00000285046:p.Arg1166His					FGD5_uc011avk.2_Missense_Mutation_p.R1166H|FGD5_uc003bzd.3_Missense_Mutation_p.R244H	p.R1166H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			12	3607	+			1166			PH 1.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3497G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849338	0.71603	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75821	-0.97;-0.97	3.86	3.86	0.44501	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.281795	0.25436	N	0.030693	T	0.81138	0.4760	L	0.54323	1.7	0.47949	D	0.999552	D;D	0.89917	0.998;1.0	P;D	0.65443	0.876;0.935	T	0.82938	-0.0209	10	0.72032	D	0.01	-24.6711	12.6537	0.56776	0.0:0.0:1.0:0.0	.	925;1166	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	H	1166;925	ENSP00000285046:R1166H;ENSP00000445949:R925H	ENSP00000285046:R1166H	R	+	2	0	FGD5	14935272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	1.988000	0.58038	0.591000	0.81541	CGC		0.602	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14960268	G	A	14960268	3	1	44	1	0	0	0	0	1	0	0	0	5836	1087	38	1	3547	1	FGD5	3	14960268	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		14960268	183062162	18	2779											
OR5AC2	81050	broad.mit.edu	37	chr3	97806681	97806681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcataatctcttatactcGtgtgctctttgatattctga	9	19	5	8	1	4	2	1	2	3	0	6	2	4	2	0	0	2	1	0	0	5	7	rs200290395		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:97806681G>A	ENST00000358642.2	+	1	665	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	222					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTATACTCGTGTGCTCTTT	0.373																																						uc011bgs.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(664-666)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.							37	38	38					3																	97806681		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806681G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.665G>A	3.37:g.97806681G>A	ENSP00000351466:p.Arg222His						p.R222H	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			0	665	+			222						Missense_Mutation	SNP	ENST00000358642.2	37	c.665G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758057	0.49468	.	.	ENSG00000196578	ENST00000358642	T	0.00107	8.72	4.42	-6.27	0.02026	GPCR, rhodopsin-like superfamily (1);	2.231340	0.02412	U	0.081750	T	0.00073	0.0002	N	0.04724	-0.175	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.39482	-0.9612	10	0.66056	D	0.02	1.6995	0.6556	0.00834	0.2262:0.2056:0.1583:0.41	.	222	Q9NZP5	O5AC2_HUMAN	H	222	ENSP00000351466:R222H	ENSP00000351466:R222H	R	+	2	0	OR5AC2	99289371	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	-5.596000	0.00111	-0.786000	0.04516	0.523000	0.50628	CGT		0.373	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			A	97806681	G	A	97806681	3	1	44	1	0	0	0	0	1	0	0	0	11141	1145	40	1	667	1	OR5AC2	3	97806681	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	82846413	97806681	100215749	19	2780											
DTX3L	151636	broad.mit.edu	37	chr3	122289489	122289489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggaatgatattcaccAcaaaacatcccggtttggag	13	10	8	10	1	1	1	1	1	0	0	2	3	2	3	2	3	1	1	2	3	4	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:122289489A>G	ENST00000296161.4	+	4	2312	c.2123A>G	c.(2122-2124)cAc>cGc	p.H708R	DTX3L_ENST00000383661.3_Missense_Mutation_p.H196R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	708					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GATATTCACCACAAAACATCC	0.423																																						uc003efk.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(2122-2124)cAc>cGc		Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.							108	106	107					3																	122289489		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122289489A>G		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.2123A>G	3.37:g.122289489A>G	ENSP00000296161:p.His708Arg					DTX3L_uc010hrj.3_Missense_Mutation_p.H196R|DTX3L_uc021xdb.1_3'UTR	p.H708R	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	2212	+			708					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.2123A>G	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642725	0.87859	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.50277	0.75;0.75	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000035	T	0.77157	0.4089	H	0.95114	3.625	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84303	0.0506	10	0.87932	D	0	-12.5689	13.7979	0.63182	1.0:0.0:0.0:0.0	.	196;708	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	R	708;196	ENSP00000296161:H708R;ENSP00000373157:H196R	ENSP00000296161:H708R	H	+	2	0	DTX3L	123772179	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.096000	0.94182	2.131000	0.65755	0.459000	0.35465	CAC		0.423	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		G	122289489	A	G	122289489	3	3	44	1	0	0	0	0	1	0	0	0	4796	159	6	4	2137	4	DTX3L	3	122289489	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	24482808	122289489	75732941	20	2781											
PDGFRA	5156	broad.mit.edu	37	chr4	55156661	55156661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtggctacatcattcCtctgcctgacattgaccctg	8	12	8	13	0	2	3	1	3	1	0	3	3	3	3	3	1	2	1	3	1	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:55156661C>T	ENST00000257290.5	+	22	3393	c.3062C>T	c.(3061-3063)cCt>cTt	p.P1021L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.P781L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1021					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TACATCATTCCTCTGCCTGAC	0.562			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3061-3063)cCt>cTt		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						160	134	143					4																	55156661		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156661C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3062C>T	4.37:g.55156661C>T	ENSP00000257290:p.Pro1021Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Missense_Mutation_p.P781L	p.P1021L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		21	3393	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1021					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3062C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927926	0.92389	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78246	-1.16;-0.99	5.93	5.93	0.95920	.	0.000000	0.31949	U	0.006811	D	0.88062	0.6336	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87967	0.2734	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1021	P16234	PGFRA_HUMAN	L	781;1021	ENSP00000423325:P781L;ENSP00000257290:P1021L	ENSP00000423325:P781L	P	+	2	0	FIP1L1;PDGFRA	54851418	1.000000	0.71417	0.970000	0.41538	0.659000	0.38960	7.358000	0.79466	2.814000	0.96858	0.563000	0.77884	CCT		0.562	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		T	55156661	C	T	55156661	3	4	44	1	0	0	0	0	1	0	0	0	11661	681	24	3	3144	3	PDGFRA	4	55156661	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		55156661	135997615	21	2782											
FSTL5	56884	broad.mit.edu	37	chr4	162697175	162697175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatttttgattttgtaaaTctaatagcatatttttcatc	12	22	3	4	0	2	1	1	1	1	0	3	1	2	1	0	0	1	2	0	0	7	12			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:162697175T>C	ENST00000306100.5	-	5	897	c.461A>G	c.(460-462)gAt>gGt	p.D154G	FSTL5_ENST00000536695.1_Missense_Mutation_p.D153G|FSTL5_ENST00000427802.2_Missense_Mutation_p.D153G|FSTL5_ENST00000379164.4_Missense_Mutation_p.D153G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	154						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTTGTAAATCTAATAGCAT	0.279																																						uc003iqh.3																			0		p.L153S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(460-462)gAt>gGt		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							53	52	53					4																	162697175		2200	4293	6493	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697175T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.461A>G	4.37:g.162697175T>C	ENSP00000305334:p.Asp154Gly					FSTL5_uc003iqi.3_Missense_Mutation_p.D153G|FSTL5_uc010iqv.3_Missense_Mutation_p.D153G	p.D154G	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	897	-	all_hematologic(180;0.24)		154					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.461A>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736842	0.30774	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74209	-0.8;-0.78;-0.82;-0.78	5.3	4.12	0.48240	.	0.093823	0.64402	N	0.000001	T	0.79598	0.4473	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.979;0.993	P;P;P	0.57620	0.824;0.652;0.628	T	0.76269	-0.3021	10	0.24483	T	0.36	.	10.3219	0.43771	0.0:0.0775:0.0:0.9225	.	153;153;154	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	G	154;153;153;153	ENSP00000305334:D154G;ENSP00000368462:D153G;ENSP00000389270:D153G;ENSP00000440409:D153G	ENSP00000305334:D154G	D	-	2	0	FSTL5	162916625	1.000000	0.71417	0.999000	0.59377	0.035000	0.12851	6.134000	0.71689	0.959000	0.37980	0.528000	0.53228	GAT		0.279	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		C	162697175	T	C	162697175	3	2	44	1	0	0	0	0	1	0	0	0	6080	1435	50	4	2130	4	FSTL5	4	162697175	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08	107540514	162697175	28457101	22	2783											
CHSY3	337876	broad.mit.edu	37	chr5	129243856	129243856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggggaatattgaagagCttggaaagctgggactggag	11	8	17	5	0	0	2	0	1	0	1	0	6	0	6	1	5	2	2	1	5	4	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:129243856C>G	ENST00000305031.4	+	2	1247	c.889C>G	c.(889-891)Ctt>Gtt	p.L297V	CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	297					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TATTGAAGAGCTTGGAAAGCT	0.473																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(889-891)Ctt>Gtt		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							87	88	88					5																	129243856		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129243856C>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.889C>G	5.37:g.129243856C>G	ENSP00000302629:p.Leu297Val						p.L297V	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	889	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	297					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.889C>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101888	0.37048	.	.	ENSG00000198108	ENST00000305031	D	0.84800	-1.9	4.33	3.46	0.39613	.	0.000000	0.33691	N	0.004648	T	0.73544	0.3600	N	0.17312	0.475	0.46678	D	0.99915	B	0.34161	0.439	B	0.33521	0.165	T	0.70468	-0.4863	9	.	.	.	.	14.6624	0.68882	0.1468:0.8532:0.0:0.0	.	297	Q70JA7	CHSS3_HUMAN	V	297	ENSP00000302629:L297V	.	L	+	1	0	CHSY3	129271755	0.994000	0.37717	0.995000	0.50966	0.986000	0.74619	1.189000	0.32114	1.400000	0.46741	0.591000	0.81541	CTT		0.473	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		G	129243856	C	G	129243856	3	3	44	1	0	0	0	0	1	0	0	0	3413	797	28	5	895	5	CHSY3	5	129243856	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		129243856	51671404	23	2784											
SLIT3	6586	broad.mit.edu	37	chr5	168175347	168175347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcctctggggagggcgcGgagccccttgttgctgcatc	4	9	15	13	2	1	0	0	0	1	0	2	2	1	2	3	4	4	3	3	4	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:168175347G>A	ENST00000519560.1	-	20	2649	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	SLIT3_ENST00000332966.8_Missense_Mutation_p.R744C|SLIT3_ENST00000404867.3_Missense_Mutation_p.R744C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	744	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R744S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGAGGGCGCGGAGCCCCTTG	0.632																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			1	Substitution - Missense(1)	p.R744S(2)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2230-2232)Cgc>Tgc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							86	86	86					5																	168175347		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175347G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2230C>T	5.37:g.168175347G>A	ENSP00000430333:p.Arg744Cys					SLIT3_uc003mab.3_Missense_Mutation_p.R744C	p.R744C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	2650	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	744			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2230C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	g	18.27	3.586246	0.66105	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.96459	-4.02;-4.02;-4.02	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.439088	0.25851	N	0.027892	D	0.97501	0.9182	M	0.80982	2.52	0.37083	D	0.899081	D	0.65815	0.995	P	0.58970	0.849	D	0.99926	1.1289	10	0.87932	D	0	.	13.9178	0.63911	0.0:0.0:0.848:0.152	.	744	O75094	SLIT3_HUMAN	C	744	ENSP00000430333:R744C;ENSP00000332164:R744C;ENSP00000384890:R744C	ENSP00000332164:R744C	R	-	1	0	SLIT3	168107925	0.011000	0.17503	0.921000	0.36526	0.680000	0.39746	1.456000	0.35201	2.483000	0.83821	0.550000	0.68814	CGC		0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		A	168175347	G	A	168175347	3	1	44	1	0	0	0	0	1	0	0	0	14741	1116	39	2	2409	2	SLIT3	5	168175347	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	38931491	168175347	12739913	24	2785											
PSORS1C1	170679	broad.mit.edu	37	chr6	31106528	31106528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttaatcctgaccgacttTgccacatggagccagcaaac	12	8	8	13	2	0	1	0	1	0	0	1	3	1	2	4	1	4	2	4	1	2	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:31106528T>C	ENST00000259881.9	+	5	428	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_5'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	47										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGACCGACTTTGCCACATGGA	0.557																																						uc003nsl.2																			0				kidney(1)|ovary(2)|prostate(1)|skin(1)	5						c.(139-141)Tgc>Cgc		Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.							155	152	153					6																	31106528		1511	2709	4220	SO:0001583	missense	170679							g.chr6:31106528T>C	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.139T>C	6.37:g.31106528T>C	ENSP00000259881:p.Cys47Arg					PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron|PSORS1C2_uc003nso.4_Intron	p.C47R	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN			4	428	+			47					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.139T>C	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	T	9.787	1.176955	0.21787	.	.	ENSG00000204540	ENST00000259881	T	0.15487	2.42	3.22	-6.45	0.01914	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48811	-0.9002	9	0.87932	D	0	.	4.2471	0.10677	0.166:0.2818:0.0:0.5522	.	47	Q9UIG5	PS1C1_HUMAN	R	47	ENSP00000259881:C47R	ENSP00000259881:C47R	C	+	1	0	PSORS1C1	31214507	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.950000	0.01530	-0.758000	0.04690	-0.781000	0.03364	TGC		0.557	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		C	31106528	T	C	31106528	3	2	44	1	0	0	0	0	1	0	0	0	12714	1812	63	4	149	4	PSORS1C1	6	31106528	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08		31106528	140008539	25	2786											
MRAP2	112609	broad.mit.edu	37	chr6	84799086	84799086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtttgacatccccaaCtttgtgaacacagaccagaa	15	9	7	10	0	0	5	0	3	0	2	1	5	1	5	3	0	2	1	3	0	4	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:84799086C>A	ENST00000257776.4	+	4	639	c.504C>A	c.(502-504)aaC>aaA	p.N168K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	168					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ACATCCCCAACTTTGTGAACA	0.502																																						uc003pkg.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(502-504)aaC>aaA		Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.							121	121	121					6																	84799086		2203	4300	6503	SO:0001583	missense	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799086C>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.504C>A	6.37:g.84799086C>A	ENSP00000257776:p.Asn168Lys					MRAP2_uc010kbo.3_Missense_Mutation_p.N82K	p.N168K	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	694	+			168					A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	c.504C>A	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640950	0.87859	.	.	ENSG00000135324	ENST00000257776	D	0.88124	-2.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90621	0.7059	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	D	0.91135	0.4941	10	0.87932	D	0	-1.4142	19.3838	0.94548	0.0:1.0:0.0:0.0	.	168	Q96G30	MRAP2_HUMAN	K	168	ENSP00000257776:N168K	ENSP00000257776:N168K	N	+	3	2	MRAP2	84855805	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.821000	0.39041	2.670000	0.90874	0.655000	0.94253	AAC		0.502	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		A	84799086	C	A	84799086	3	1	44	1	0	0	0	0	1	0	0	0	9754	564	20	5	514	5	MRAP2	6	84799086	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	53692558	84799086	86315981	26	2787											
ULBP1	80329	broad.mit.edu	37	chr6	150291168	150291168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagaaccaccctctctggcCccaggcacaacccaacccaa	12	4	5	20	0	2	1	1	0	1	1	3	1	2	1	6	2	3	1	6	2	4	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:150291168C>T	ENST00000229708.3	+	4	685	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	214					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.A214A(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTCTCTGGCCCCAGGCACAA	0.562																																						uc003qnp.3																			1	Substitution - coding silent(1)	p.A214A(2)	lung(1)	large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(640-642)gcC>gcT		Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.							122	100	107					6																	150291168		2203	4300	6503	SO:0001819	synonymous_variant	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150291168C>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.642C>T	6.37:g.150291168C>T							p.A214A	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	3	685	+		Ovarian(120;0.0907)	214					Q5VY81|Q8IZW3|Q8IZX6	Silent	SNP	ENST00000229708.3	37	c.642C>T	CCDS5223.1																																																																																				0.562	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			T	150291168	C	T	150291168	2	4	44	1	0	0	0	0	0	0	0	1	16969	610	22	3		3	ULBP1	6	150291168	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	65492082	150291168	20823899	27	2788											
PACRG	135138	broad.mit.edu	37	chr6	163235289	163235289	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgcccttgagcatgattcGaaaggaaacaaaatcgcctg	14	9	9	9	2	0	2	0	2	0	0	2	4	0	3	2	1	3	1	2	1	4	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:163235289G>A	ENST00000337019.3	+	3	491	c.267G>A	c.(265-267)tcG>tcA	p.S89S	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Silent_p.S89S|PACRG_ENST00000366889.2_Silent_p.S89S	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	89					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AGCATGATTCGAAAGGAAACA	0.517																																						uc003qua.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(265-267)tcG>tcA		Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.							98	98	98					6																	163235289		2203	4300	6503	SO:0001819	synonymous_variant	135138							g.chr6:163235289G>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.267G>A	6.37:g.163235289G>A						PACRG_uc003qub.3_Silent_p.S89S|PACRG_uc003quc.3_Silent_p.S89S	p.S89S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	2	491	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	89					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	c.267G>A	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917307	0.17982	.	.	ENSG00000112530	ENST00000534958	.	.	.	5.52	-1.78	0.07957	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	-10.6882	3.038	0.06128	0.3465:0.3351:0.229:0.0893	.	.	.	.	K	5	.	.	E	+	1	0	PACRG	163155279	0.017000	0.18338	1.000000	0.80357	0.995000	0.86356	-0.854000	0.04299	-0.252000	0.09528	-0.222000	0.12452	GAA		0.517	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		A	163235289	G	A	163235289	2	1	44	1	0	0	0	0	0	0	0	1	11370	1045	37	2		2	PACRG	6	163235289	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	12944121	163235289	7879778	28	2789											
NPSR1	387129	broad.mit.edu	37	chr7	34698051	34698051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaacttcacagagggcagCttcgattccagtgggaccgg	9	7	13	12	2	1	1	1	0	0	1	3	3	2	2	3	3	2	2	3	3	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:34698051C>A	ENST00000360581.1	+	1	155	c.27C>A	c.(25-27)agC>agA	p.S9R	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.S9R|NPSR1_ENST00000381553.3_Missense_Mutation_p.S9R|NPSR1_ENST00000531252.1_Missense_Mutation_p.S9R|NPSR1_ENST00000465305.1_Missense_Mutation_p.S9R|NPSR1_ENST00000381539.3_Missense_Mutation_p.S9R|NPSR1_ENST00000359791.1_Missense_Mutation_p.S9R|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	9						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAGGGCAGCTTCGATTCCA	0.572																																						uc003teh.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(25-27)agC>agA		Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	Halothane(DB01159)						104	91	95					7																	34698051		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698051C>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.27C>A	7.37:g.34698051C>A	ENSP00000353788:p.Ser9Arg					NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S9R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S9R|NPSR1_uc003tei.1_Missense_Mutation_p.S9R|NPSR1_uc010kww.1_Missense_Mutation_p.S9R|NPSR1_uc011kar.1_Missense_Mutation_p.S9R	p.S9R	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN			0	155	+			9					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.27C>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801707	0.50315	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.53	4.53	0.55603	.	0.534882	0.18708	N	0.133383	T	0.27313	0.0670	L	0.27053	0.805	0.35490	D	0.798917	P;P;P;P;P;B	0.44429	0.718;0.835;0.703;0.835;0.703;0.392	B;P;B;P;B;B	0.44561	0.298;0.453;0.318;0.453;0.318;0.134	T	0.37572	-0.9700	10	0.72032	D	0.01	-19.9121	12.9527	0.58409	0.0:1.0:0.0:0.0	.	9;9;9;9;9;9	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	R	9	ENSP00000370965:S9R;ENSP00000434955:S9R;ENSP00000353788:S9R;ENSP00000370953:S9R;ENSP00000352839:S9R;ENSP00000433258:S9R;ENSP00000370950:S9R	ENSP00000352839:S9R	S	+	3	2	NPSR1	34664576	0.801000	0.28930	0.891000	0.34965	0.281000	0.26958	1.833000	0.39161	2.499000	0.84300	0.655000	0.94253	AGC		0.572	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		A	34698051	C	A	34698051	3	1	44	1	0	0	0	0	1	0	0	0	10600	796	28	5	29	5	NPSR1	7	34698051	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		34698051	124440612	29	2790											
WBSCR17	64409	broad.mit.edu	37	chr7	70597924	70597924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgagatccggccgcgcGccgaggtggccaacctcagc	7	4	13	17	6	1	1	1	0	0	1	3	3	3	1	6	3	2	0	6	3	1	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:70597924G>A	ENST00000333538.5	+	1	770	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	46					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCGCGCGCCGAGGTGGC	0.677																																						uc003tvy.3																			0		p.R45H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(136-138)Gcc>Acc		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							26	27	26					7																	70597924		2196	4292	6488	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597924G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.136G>A	7.37:g.70597924G>A	ENSP00000329654:p.Ala46Thr						p.A46T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			0	136	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	46					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.136G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860927	0.71834	.	.	ENSG00000185274	ENST00000333538	T	0.55052	0.54	4.72	4.72	0.59763	.	0.560500	0.16105	N	0.229375	T	0.56441	0.1985	N	0.22421	0.69	0.43761	D	0.996272	D	0.76494	0.999	D	0.68621	0.959	T	0.44421	-0.9329	10	0.11182	T	0.66	.	16.8419	0.85971	0.0:0.0:1.0:0.0	.	46	Q6IS24	GLTL3_HUMAN	T	46	ENSP00000329654:A46T	ENSP00000329654:A46T	A	+	1	0	WBSCR17	70235860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.674000	0.54598	2.448000	0.82819	0.467000	0.42956	GCC		0.677	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		A	70597924	G	A	70597924	3	1	44	1	0	0	0	0	1	0	0	0	17261	1087	38	1	138	1	WBSCR17	7	70597924	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	35899873	70597924	88540739	30	2791											
SRCRB4D	136853	broad.mit.edu	37	chr7	76033702	76033702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatctcccaacctccaccCccagcgcttctcatccagct	7	8	3	23	1	2	0	1	0	2	0	6	0	4	0	7	0	3	2	7	0	1	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:76033702C>T	ENST00000275560.3	-	2	402	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AACCTCCACCCCCAGCGCTTC	0.597																																						uc003ufb.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(55-57)Ggg>Agg		Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.							126	116	119					7																	76033702		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033702C>T																												ENST00000275560.3:c.55G>A	7.37:g.76033702C>T	ENSP00000275560:p.Gly19Arg					ZP3_uc003ufc.4_Intron	p.G19R	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			1	403	-			19						Missense_Mutation	SNP	ENST00000275560.3	37	c.55G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672434	0.29693	.	.	ENSG00000146700	ENST00000275560	T	0.01215	5.16	4.99	3.16	0.36331	.	0.714189	0.12756	N	0.441758	T	0.01835	0.0058	L	0.56769	1.78	0.23978	N	0.996286	B	0.29085	0.232	B	0.35607	0.206	T	0.45425	-0.9262	10	0.20519	T	0.43	.	6.506	0.22196	0.1781:0.7301:0.0:0.0918	.	19	Q8WTU2	SRB4D_HUMAN	R	19	ENSP00000275560:G19R	ENSP00000275560:G19R	G	-	1	0	SRCRB4D	75871638	0.103000	0.21917	0.163000	0.22734	0.684000	0.39900	2.056000	0.41355	0.810000	0.34279	-0.328000	0.08392	GGG		0.597	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			T	76033702	C	T	76033702	3	4	44	1	0	0	0	0	1	0	0	0	15136	623	22	3	1712	3	SRCRB4D	7	76033702	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5435778	76033702	83104961	31	2792											
RELN	5649	broad.mit.edu	37	chr7	103417022	103417022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctccttgttcacacaactGctgggctaaagcatctttga	10	12	7	12	0	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	3	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:103417022G>A	ENST00000428762.1	-	4	685	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Q176*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Q176*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	176	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACACAACTGCTGGGCTAAA	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(526-528)Cag>Tag		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							129	121	124					7																	103417022		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103417022G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.526C>T	7.37:g.103417022G>A	ENSP00000392423:p.Gln176*					RELN_uc022ajq.1_Nonsense_Mutation_p.Q176*|RELN_uc010liz.3_Nonsense_Mutation_p.Q176*	p.Q176*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	3	686	-			176			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.526C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	39	7.875216	0.98537	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.121	0.93364	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000345694:Q176X	Q	-	1	0	RELN	103204258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.038000	0.88943	2.814000	0.96858	0.591000	0.81541	CAG		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103417022	G	A	103417022	4	1	44	1	0	0	0	0	0	1	0	0	13220	1328	46	3	10104	3	RELN	7	103417022	Nonsense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	27383320	103417022	55721641	32	2793											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432019	117432019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctatgcctggtgtttGagcggtgggaggggcagcgt	6	9	20	6	2	0	1	0	1	0	0	0	3	0	3	1	6	4	3	1	6	1	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:117432019G>T	ENST00000160373.3	-	4	1322	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1231-1233)Caa>Aaa		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							199	177	185					7																	117432019		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432019G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1231C>A	7.37:g.117432019G>T	ENSP00000160373:p.Gln411Lys						p.Q411K	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	1323	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		411			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1231C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.770025	0.00081	.	.	ENSG00000077063	ENST00000160373	T	0.63744	-0.06	4.52	4.52	0.55395	.	0.571274	0.16235	N	0.223406	T	0.56645	0.1999	M	0.75447	2.3	0.09310	N	1	B	0.24368	0.102	B	0.21360	0.034	T	0.43261	-0.9402	10	0.19147	T	0.46	-3.2383	7.4765	0.27378	0.0879:0.0:0.7447:0.1674	.	411	Q8WZ74	CTTB2_HUMAN	K	411	ENSP00000160373:Q411K	ENSP00000160373:Q411K	Q	-	1	0	CTTNBP2	117219255	0.991000	0.36638	0.096000	0.21009	0.012000	0.07955	2.855000	0.48333	2.500000	0.84329	0.460000	0.39030	CAA		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117432019	G	T	117432019	3	4	44	1	0	0	0	0	1	0	0	0	4045	1299	45	5	3840	5	CTTNBP2	7	117432019	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	14014997	117432019	41706644	33	2794											
GALT	2592	broad.mit.edu	37	chr9	34648454	34648454	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggagctactcaggaagGtgggagagagccaagccctg	11	4	16	10	0	1	1	1	0	0	1	1	5	1	4	3	4	4	1	3	4	3	1	rs193922250		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:34648454G>A	ENST00000378842.3	+	7	729		c.e7+1		GALT_ENST00000450095.2_Splice_Site|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000556278.1_Splice_Site	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACTCAGGAAGGTGGGAGAGAG	0.532									Galactosemia																													uc003zve.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.e7+1		Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.							64	68	67					9																	34648454		2203	4300	6503	SO:0001630	splice_region_variant	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34648454G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.687+1G>A	9.37:g.34648454G>A						GALT_uc003zvf.3_Splice_Site_p.K120_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.3_5'Flank	p.K229_splice	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	7	754	+	all_epithelial(49;0.102)		229		K -> N (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Splice_Site	SNP	ENST00000378842.3	37	c.687_splice	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203599	0.38905	.	.	ENSG00000213930;ENSG00000213930;ENSG00000258728	ENST00000450095;ENST00000378842;ENST00000556278	.	.	.	4.41	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9429	0.52911	0.0:0.1761:0.8239:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-195F19.29;GALT	34638454	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.904000	0.63279	2.459000	0.83118	0.655000	0.94253	.		0.532	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155	Intron	A	34648454	G	A	34648454	5	1	44	1	0	0	0	0	0	0	1	0	6230	1275	44	3	714	3	GALT	9	34648454	Splice_Site	SNP	G	TCGA-06-0213-01A-01D-1491-08		34648454	106564977	34	2795											
TDRD7	23424	broad.mit.edu	37	chr9	100245441	100245441	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacctcctgtccacttatCaaagccaggggaacacatgg	11	7	9	14	0	1	0	1	0	0	0	3	1	3	1	5	3	2	0	5	3	3	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:100245441C>G	ENST00000355295.4	+	15	3018	c.2723C>G	c.(2722-2724)tCa>tGa	p.S908*	TDRD7_ENST00000422139.2_Nonsense_Mutation_p.S834*|TDRD7_ENST00000540902.1_Nonsense_Mutation_p.S228*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	908	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTCCACTTATCAAAGCCAGGG	0.498																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2722-2724)tCa>tGa		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.							67	60	62					9																	100245441		2203	4300	6503	SO:0001587	stop_gained	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100245441C>G	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2723C>G	9.37:g.100245441C>G	ENSP00000347444:p.Ser908*					TDRD7_uc011lux.2_Nonsense_Mutation_p.S834*|TDRD7_uc010msp.1_Nonsense_Mutation_p.S160*|TDRD7_uc011luy.2_Nonsense_Mutation_p.S228*	p.S908*	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			14	2948	+		Acute lymphoblastic leukemia(62;0.158)	908			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Nonsense_Mutation	SNP	ENST00000355295.4	37	c.2723C>G	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	37	6.096468	0.97281	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	.	.	.	5.52	4.62	0.57501	.	0.119770	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-10.0685	15.526	0.75905	0.0:0.8613:0.1387:0.0	.	.	.	.	X	908;834;228	.	ENSP00000347444:S908X	S	+	2	0	TDRD7	99285262	0.731000	0.28111	0.185000	0.23176	0.252000	0.25951	4.223000	0.58587	1.466000	0.48025	0.555000	0.69702	TCA		0.498	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		G	100245441	C	G	100245441	4	3	44	1	0	0	0	0	0	1	0	0	15732	838	29	5	2777	5	TDRD7	9	100245441	Nonsense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	65596987	100245441	40967990	35	2796											
TNFSF15	9966	broad.mit.edu	37	chr9	117552981	117552981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtctggcttgtttggtcgGcctgcttgtctgatttcact	3	17	12	9	1	3	1	1	1	2	0	4	2	3	1	1	3	1	3	1	3	0	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:117552981G>A	ENST00000374045.4	-	4	620	c.507C>T	c.(505-507)ggC>ggT	p.G169G	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Silent_p.G92G	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	169					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTTTGGTCGGCCTGCTTGTC	0.527																																						uc004bjh.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(505-507)ggC>ggT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.							207	169	182					9																	117552981		2203	4300	6503	SO:0001819	synonymous_variant	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552981G>A	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.507C>T	9.37:g.117552981G>A						TNFSF15_uc004bjg.3_Silent_p.G110G	p.G169G	NM_005118	NP_005109	O95150	TNF15_HUMAN			3	623	-			169					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	ENST00000374045.4	37	c.507C>T	CCDS6809.1																																																																																				0.527	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		A	117552981	G	A	117552981	2	1	44	1	0	0	0	0	0	0	0	1	16305	1190	42	3		3	TNFSF15	9	117552981	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	17307540	117552981	23660450	36	2797											
MPP7	143098	broad.mit.edu	37	chr10	28420514	28420514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctatttttgaccagaCggattatttttactgagtct	8	19	7	7	1	2	3	0	2	2	1	3	4	2	4	1	1	1	1	1	1	3	8	rs200656300		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:28420514C>T	ENST00000375732.1	-	6	681	c.422G>A	c.(421-423)cGt>cAt	p.R141H	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Missense_Mutation_p.R16H|MPP7_ENST00000375719.3_Missense_Mutation_p.R141H|MPP7_ENST00000337532.5_Missense_Mutation_p.R141H|MPP7_ENST00000540098.1_Missense_Mutation_p.R141H			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	141	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.R141H(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTGACCAGACGGATTATTTT	0.423																																						uc001iua.1																			1	Substitution - Missense(1)	p.R141H(2)	endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(421-423)cGt>cAt		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.		C	HIS/ARG	0,4406		0,0,2203	133	121	125		422	5.7	1	10		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP7	NM_173496.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	141/577	28420514	1,13005	2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28420514C>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.422G>A	10.37:g.28420514C>T	ENSP00000364884:p.Arg141His					MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R141H|MPP7_uc009xla.2_Missense_Mutation_p.R141H|MPP7_uc010qdv.1_Non-coding_Transcript	p.R141H	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			7	826	-			141			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.422G>A	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202861	0.94997	0.0	1.16E-4	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.74	5.74	0.90152	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54125	-0.8340	10	0.46703	T	0.11	.	19.513	0.95151	0.0:1.0:0.0:0.0	.	141	Q5T2T1	MPP7_HUMAN	H	141;141;141;141;16	ENSP00000364884:R141H;ENSP00000337907:R141H;ENSP00000438693:R141H;ENSP00000364871:R141H;ENSP00000405397:R16H	ENSP00000337907:R141H	R	-	2	0	MPP7	28460520	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.620000	0.83070	2.716000	0.92895	0.561000	0.74099	CGT		0.423	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		T	28420514	C	T	28420514	3	4	44	1	0	0	0	0	1	0	0	0	9739	536	19	1	1356	1	MPP7	10	28420514	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		28420514	107114233	37	2798											
ZNF239	8187	broad.mit.edu	37	chr10	44052995	44052995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagttattatggtcacagGgtttctcctctgtatgagct	8	15	9	9	0	3	1	1	1	2	0	4	1	3	1	1	2	1	4	1	2	3	4	rs199750361	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:44052995G>T	ENST00000306006.6	-	2	1185	c.533C>A	c.(532-534)cCc>cAc	p.P178H	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000535642.1_Missense_Mutation_p.P178H|ZNF239_ENST00000426961.1_Missense_Mutation_p.P178H|ZNF239_ENST00000374446.2_Missense_Mutation_p.P178H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGGTCACAGGGTTTCTCCTC	0.428																																						uc001jaw.4																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(532-534)cCc>cAc		Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.							145	132	137					10																	44052995		1951	4150	6101	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052995G>T	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"Zinc fingers, C2H2-type"	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.533C>A	10.37:g.44052995G>T	ENSP00000307774:p.Pro178His					ZNF239_uc001jax.4_Missense_Mutation_p.P178H|ZNF239_uc009xmj.3_Missense_Mutation_p.P178H|ZNF239_uc009xmk.3_Missense_Mutation_p.P178H|ZNF239_uc021pph.1_Missense_Mutation_p.P178H	p.P178H	NM_005674	NP_005665	Q16600	ZN239_HUMAN			1	1186	-			178					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.533C>A	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817989	0.71028	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	3.98	2.13	0.27403	.	.	.	.	.	T	0.43322	0.1242	M	0.79926	2.475	0.28014	N	0.934789	D	0.61080	0.989	P	0.45998	0.5	T	0.42832	-0.9428	9	0.87932	D	0	-3.229	8.3809	0.32470	0.1959:0.0:0.8041:0.0	.	178	Q16600	ZN239_HUMAN	H	178	ENSP00000307774:P178H;ENSP00000363569:P178H;ENSP00000398202:P178H;ENSP00000443907:P178H	ENSP00000307774:P178H	P	-	2	0	ZNF239	43373001	0.965000	0.33210	0.002000	0.10522	0.204000	0.24138	3.503000	0.53340	0.644000	0.30656	0.655000	0.94253	CCC		0.428	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			T	44052995	G	T	44052995	3	4	44	1	0	0	0	0	1	0	0	0	17788	1232	43	5	847	5	ZNF239	10	44052995	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	15632481	44052995	91481752	38	2799											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							60	63	62					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R335*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2035	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720852	C	T	89720852	4	4	44	1	0	0	0	0	0	1	0	0	12738	644	23	2	1033	2	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	45667857	89720852	45813895	39	2800											
KNDC1	85442	broad.mit.edu	37	chr10	135038289	135038289	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcggtgccgacatttcCacactcgccgcagatagcag	9	8	10	14	4	1	1	1	0	0	1	3	2	2	1	3	1	3	2	3	1	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:135038289C>G	ENST00000304613.3	+	30	5166	c.5145C>G	c.(5143-5145)tcC>tcG	p.S1715S	KNDC1_ENST00000368572.2_Silent_p.S1717S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1715	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCGACATTTCCACACTCGCCG	0.582																																						uc001llz.1																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5143-5145)tcC>tcG		Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.							79	67	71					10																	135038289		2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038289C>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5145C>G	10.37:g.135038289C>G							p.S1715S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	29	5146	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1715			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.5145C>G	CCDS7674.1																																																																																				0.582	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		G	135038289	C	G	135038289	2	3	44	1	0	0	0	0	0	0	0	1	8426	581	21	5		5	KNDC1	10	135038289	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	45317437	135038289	496458	40	2801											
OR5L2	26338	broad.mit.edu	37	chr11	55594994	55594994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctagggtgcatggtgcaAttctacttgttttgcacatg	7	16	10	8	0	1	0	0	0	1	0	2	0	2	0	1	2	4	4	1	2	3	7			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:55594994A>G	ENST00000378397.1	+	1	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCATGGTGCAATTCTACTTGT	0.473										HNSCC(27;0.073)																												uc001nhy.1																			0		p.Q100R(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(298-300)caA>caG		Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.							191	180	184					11																	55594994		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594994A>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.300A>G	11.37:g.55594994A>G		HNSCC(27;0.073)					p.Q100Q	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			0	300	+		all_epithelial(135;0.208)	100					Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.300A>G	CCDS31511.1																																																																																				0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		G	55594994	A	G	55594994	2	3	44	1	0	0	0	0	0	0	0	1	11171	98	4	4		4	OR5L2	11	55594994	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08		55594994	79411522	41	2802											
GLYATL1	92292	broad.mit.edu	37	chr11	58723492	58723492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctacccacagaatctagttCcattttagacaatgaagctg	13	11	7	10	0	1	3	0	1	1	2	2	3	2	3	2	0	2	3	2	0	6	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:58723492C>T	ENST00000317391.4	+	8	1241	c.901C>T	c.(901-903)Cca>Tca	p.P301S	RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.P332S	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	301						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418																																						uc001nnh.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(994-996)Cca>Tca		Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	Glycine(DB00145)						49	50	50					11																	58723492		2201	4293	6494	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723492C>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.901C>T	11.37:g.58723492C>T	ENSP00000322223:p.Pro301Ser					GLYATL1_uc001nnf.3_Missense_Mutation_p.P301S|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.2_Missense_Mutation_p.P301S	p.P332S	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN			6	1044	+			301					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.994C>T	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	8.688	0.906668	0.17833	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.25414	2.38;1.8	1.67	1.67	0.24075	.	1.908140	0.04412	U	0.366123	T	0.19565	0.0470	L	0.36672	1.1	0.09310	N	1	P;B	0.38800	0.648;0.244	B;B	0.31290	0.127;0.025	T	0.29671	-1.0004	10	0.66056	D	0.02	.	6.6757	0.23093	0.0:1.0:0.0:0.0	.	332;301	Q969I3-2;Q969I3	.;GLYL1_HUMAN	S	278;301;332	ENSP00000322223:P301S;ENSP00000300079:P332S	ENSP00000300079:P332S	P	+	1	0	GLYATL1	58480068	0.003000	0.15002	0.029000	0.17559	0.085000	0.17905	0.499000	0.22546	0.886000	0.36113	0.411000	0.27672	CCA		0.418	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		T	58723492	C	T	58723492	3	4	44	1	0	0	0	0	1	0	0	0	6480	855	30	3	1020	3	GLYATL1	11	58723492	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	3128498	58723492	76283024	42	2803											
FAT3	120114	broad.mit.edu	37	chr11	92532317	92532317	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccctttgaccgtgaagaAcaagagttatatgagctggt	11	11	11	8	1	0	5	0	3	0	2	1	5	1	5	3	1	2	2	3	1	5	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:92532317A>G	ENST00000298047.6	+	9	6155	c.6138A>G	c.(6136-6138)gaA>gaG	p.E2046E	FAT3_ENST00000409404.2_Silent_p.E2046E|FAT3_ENST00000525166.1_Silent_p.E1896E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2046	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCGTGAAGAACAAGAGTTAT	0.463										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6136-6138)gaA>gaG		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							57	59	58					11																	92532317		1929	4140	6069	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532317A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6138A>G	11.37:g.92532317A>G		TCGA Ovarian(4;0.039)					p.E2046E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	6155	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2046			Cadherin 18.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.6138A>G																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92532317	A	G	92532317	2	3	44	1	0	0	0	0	0	0	0	1	5691	40	2	4		4	FAT3	11	92532317	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08	33808825	92532317	42474199	43	2804											
TTC12	54970	broad.mit.edu	37	chr11	113233171	113233171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcctctctgaaaattGttgaggaggccttgcgagca	8	14	10	9	1	2	2	0	2	2	0	4	4	3	3	2	2	2	2	2	2	2	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:113233171G>A	ENST00000529221.1	+	19	1768	c.1663G>A	c.(1663-1665)Gtt>Att	p.V555I	TTC12_ENST00000393020.1_Missense_Mutation_p.V555I|TTC12_ENST00000483239.2_Missense_Mutation_p.V561I|TTC12_ENST00000314756.3_Missense_Mutation_p.V555I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	555										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCTGAAAATTGTTGAGGAGGC	0.428																																						uc001pnv.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1681-1683)Gtt>Att		Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.							98	104	102					11																	113233171		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113233171G>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1663G>A	11.37:g.113233171G>A	ENSP00000433757:p.Val555Ile					TTC12_uc001pnu.3_Missense_Mutation_p.V555I|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.V405I	p.V561I	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	18	1786	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	555					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1681G>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	6.115	0.389424	0.11581	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.05	-7.15	0.01521	Armadillo-like helical (1);Armadillo-type fold (1);	2.331600	0.01435	N	0.014866	T	0.35740	0.0942	L	0.34521	1.04	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.15052	0.012;0.012	T	0.23404	-1.0189	10	0.37606	T	0.19	-0.161	11.1305	0.48343	0.697:0.0:0.2107:0.0922	.	555;555	A8K8G6;Q9H892	.;TTC12_HUMAN	I	555;555;555;561	ENSP00000433757:V555I;ENSP00000315160:V555I;ENSP00000376743:V555I;ENSP00000419652:V561I	ENSP00000315160:V555I	V	+	1	0	TTC12	112738381	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.543000	0.06084	-1.426000	0.01994	-0.345000	0.07892	GTT		0.428	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		A	113233171	G	A	113233171	3	1	44	1	0	0	0	0	1	0	0	0	16676	1377	48	3	1733	3	TTC12	11	113233171	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	20700854	113233171	21773345	44	2805											
SRPR	6734	broad.mit.edu	37	chr11	126137085	126137085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgccttccttcttggcccCcttttttttgctattctttg	1	22	5	13	0	2	0	0	0	2	0	3	0	3	0	4	1	2	1	4	1	1	11			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:126137085C>G	ENST00000332118.6	-	4	665	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R	FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.G143R|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	171					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTCTTGGCCCCCTTTTTTTTG	0.438																																						uc001qdh.3																			0		p.K170fs*33(2)|p.K170K(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(511-513)Ggg>Cgg		Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.							354	346	348					11																	126137085		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137085C>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.511G>C	11.37:g.126137085C>G	ENSP00000328023:p.Gly171Arg					SRPR_uc010sbm.2_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	p.G171R	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	3	689	-	all_hematologic(175;0.145)		171					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.511G>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.790053	0.31685	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.92	4.92	0.64577	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.213531	0.49916	D	0.000125	T	0.49745	0.1575	L	0.29908	0.895	0.47153	D	0.999332	B;B	0.34372	0.31;0.451	B;B	0.39299	0.296;0.173	T	0.39522	-0.9610	9	0.13108	T	0.6	-12.9188	18.3148	0.90217	0.0:1.0:0.0:0.0	.	143;171	E9PJS4;P08240	.;SRPR_HUMAN	R	171;143	.	ENSP00000328023:G171R	G	-	1	0	SRPR	125642295	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.577000	0.53885	2.546000	0.85860	0.305000	0.20034	GGG		0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		G	126137085	C	G	126137085	3	3	44	1	0	0	0	0	1	0	0	0	15161	623	22	5	1449	5	SRPR	11	126137085	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	12903914	126137085	8869431	45	2806											
ACAD8	27034	broad.mit.edu	37	chr11	134129623	134129623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacccctggcctcagctttgGcaagaaggagaaaaaggtga	13	6	13	9	0	1	3	1	1	0	2	1	5	1	3	3	4	1	2	3	4	4	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:134129623G>T	ENST00000281182.4	+	6	795	c.689G>T	c.(688-690)gGc>gTc	p.G230V	ACAD8_ENST00000537423.1_Missense_Mutation_p.G153V|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_Missense_Mutation_p.G132V|ACAD8_ENST00000374752.4_Missense_Mutation_p.G103V	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	230					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	CTCAGCTTTGGCAAGAAGGAG	0.517																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.3																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(688-690)gGc>gTc		Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.							89	92	91					11																	134129623		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134129623G>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.689G>T	11.37:g.134129623G>T	ENSP00000281182:p.Gly230Val					ACAD8_uc009zdc.3_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.G132V|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.G153V|ACAD8_uc001qhl.3_Missense_Mutation_p.G103V|ACAD8_uc010scr.1_Missense_Mutation_p.G192V|ACAD8_uc009zde.1_Missense_Mutation_p.G103V	p.G230V	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	5	750	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	230					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.689G>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930891	0.92389	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000374752;ENST00000537915	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	5.83	5.83	0.93111	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.044369	0.85682	D	0.000000	D	0.99524	0.9830	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;1.0	D	0.98438	1.0585	10	0.87932	D	0	.	20.1067	0.97897	0.0:0.0:1.0:0.0	.	171;153;132;103;230	B7Z767;B7Z5W4;B7Z9L5;Q6ZWP6;Q9UKU7	.;.;.;.;ACAD8_HUMAN	V	230;153;132;103;192	ENSP00000281182:G230V;ENSP00000443763:G153V;ENSP00000438302:G132V;ENSP00000363884:G103V	ENSP00000281182:G230V	G	+	2	0	ACAD8	133634833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GGC		0.517	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		T	134129623	G	T	134129623	3	4	44	1	0	0	0	0	1	0	0	0	110	1203	42	5	711	5	ACAD8	11	134129623	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	7992538	134129623	876893	46	2807											
CD163L1	283316	broad.mit.edu	37	chr12	7586265	7586265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaccgtctccattgacCagcctcaactccaaatctgt	10	9	7	15	1	3	1	1	1	2	0	5	2	4	2	5	1	2	0	5	1	2	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:7586265C>T	ENST00000313599.3	-	3	207	c.150G>A	c.(148-150)ctG>ctA	p.L50L	CD163L1_ENST00000396630.1_Silent_p.L50L|CD163L1_ENST00000416109.2_Silent_p.L50L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	50	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCATTGACCAGCCTCAACT	0.473																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(148-150)ctG>ctA		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							141	115	124					12																	7586265		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586265C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.150G>A	12.37:g.7586265C>T						CD163L1_uc001qsy.3_Silent_p.L50L	p.L50L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			2	176	-			50			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.150G>A	CCDS8577.1																																																																																				0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7586265	C	T	7586265	2	4	44	1	0	0	0	0	0	0	0	1	2968	581	21	3		3	CD163L1	12	7586265	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		7586265	126265630	47	2808											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435035	18435035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggcatattcttggcaaaCggatccaaatcctaatgaat	15	11	7	8	1	1	1	0	1	1	0	3	2	3	2	2	3	1	2	2	3	6	4	rs191077735	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:18435035C>T	ENST00000266497.5	+	1	58	c.20C>T	c.(19-21)aCg>aTg	p.T7M	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.T7M|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.T7M|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.T7M			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	7					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.T7M(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTGGCAAACGGATCCAAAT	0.353													.|||	4	0.000798722	0	0.0014	5008	,	,		17294	0.001		0	False		,,,				2504	0.002					uc001rdt.3																			1	Substitution - Missense(1)	p.T7M(2)	central_nervous_system(1)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(19-21)aCg>aTg		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.		C	MET/THR	1,3665		0,1,1832	46	42	44		20	3.4	1	12		44	3,8171		0,3,4084	yes	missense	PIK3C2G	NM_004570.4	81	0,4,5916	TT,TC,CC		0.0367,0.0273,0.0338	probably-damaging	7/1446	18435035	4,11836	1833	4087	5920	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435035C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.20C>T	12.37:g.18435035C>T	ENSP00000266497:p.Thr7Met					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T7M|PIK3C2G_uc010sic.2_5'UTR	p.T7M	NM_004570	NP_004561	O75747	P3C2G_HUMAN			1	136	+		Hepatocellular(102;0.194)	7					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.20C>T	CCDS44839.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	15.13	2.743150	0.49151	2.73E-4	3.67E-4	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.67171	1.1;-0.25;-0.25;-0.21	4.29	3.39	0.38822	.	0.918343	0.09112	N	0.846971	T	0.64735	0.2625	L	0.34521	1.04	0.24625	N	0.993656	D;D	0.59767	0.986;0.976	P;P	0.50896	0.653;0.451	T	0.55218	-0.8175	10	0.87932	D	0	-6.2815	10.1647	0.42873	0.0:0.7796:0.2204:0.0	.	7;7	F5H369;O75747	.;P3C2G_HUMAN	M	7	ENSP00000443850:T7M;ENSP00000404845:T7M;ENSP00000266497:T7M;ENSP00000445381:T7M	ENSP00000266497:T7M	T	+	2	0	PIK3C2G	18326302	0.019000	0.18553	0.994000	0.49952	0.723000	0.41478	-0.434000	0.06939	1.390000	0.46547	0.655000	0.94253	ACG		0.353	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18435035	C	T	18435035	3	4	44	1	0	0	0	0	1	0	0	0	11911	536	19	1	22	1	PIK3C2G	12	18435035	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	10848770	18435035	115416860	48	2809											
KRT7	3855	broad.mit.edu	37	chr12	52642505	52642505	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgaaggcttattccatCcggaccgcatccgccagtcg	7	9	9	16	4	0	1	0	1	0	0	5	2	4	2	6	2	0	2	6	2	2	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:52642505C>A	ENST00000331817.5	+	9	1554	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	KRT7_ENST00000552322.1_3'UTR|KRT86_ENST00000544024.1_5'Flank|RP3-416H24.1_ENST00000546686.1_RNA|KRT121P_ENST00000529785.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	457	Tail.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.I457M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CTTATTCCATCCGGACCGCAT	0.647																																						uc001saa.1																			1	Substitution - Missense(1)	p.I457M(2)	urinary_tract(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1369-1371)atC>atA		Homo sapiens keratin 7 (KRT7), mRNA.							36	40	39					12																	52642505		2203	4300	6503	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52642505C>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1371C>A	12.37:g.52642505C>A						KRT86_uc010snq.2_5'Flank	p.I457I	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	8	1498	+			457			Tail.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.1371C>A	CCDS8822.1																																																																																				0.647	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		A	52642505	C	A	52642505	2	1	44	1	0	0	0	0	0	0	0	1	8483	845	30	5		5	KRT7	12	52642505	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	34207470	52642505	81209390	49	2810											
KRT2	3849	broad.mit.edu	37	chr12	53039092	53039092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctctggagccagactgtCggcctccagagccataactg	8	7	11	15	2	1	2	0	0	1	2	3	3	2	3	5	2	3	0	5	2	1	1	rs142557360	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:53039092C>T	ENST00000309680.3	-	9	1652	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	544	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCCAGACTGTCGGCCTCCAGA	0.572													C|||	2	0.000399361	0	0	5008	,	,		19432	0		0.001	False		,,,				2504	0.001					uc001sat.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1630-1632)cGa>cAa		Homo sapiens keratin 2 (KRT2), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	118	123	121		1631	4.1	0.4	12	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT2	NM_000423.2	43	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	544/640	53039092	3,13003	2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53039092C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1631G>A	12.37:g.53039092C>T	ENSP00000310861:p.Arg544Gln						p.R544Q	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	8	1664	-			544			Tail.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1631G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396595	0.42512	4.54E-4	1.16E-4	ENSG00000172867	ENST00000309680	D	0.90955	-2.76	4.06	4.06	0.47325	.	.	.	.	.	T	0.81513	0.4838	N	0.08118	0	0.38928	D	0.957874	D	0.61080	0.989	P	0.45377	0.478	T	0.80612	-0.1305	9	0.13108	T	0.6	.	15.3543	0.74415	0.0:1.0:0.0:0.0	.	544	P35908	K22E_HUMAN	Q	544	ENSP00000310861:R544Q	ENSP00000310861:R544Q	R	-	2	0	KRT2	51325359	0.001000	0.12720	0.431000	0.26735	0.315000	0.28087	1.267000	0.33050	2.281000	0.76405	0.561000	0.74099	CGA		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53039092	C	T	53039092	3	4	44	1	0	0	0	0	1	0	0	0	8457	884	31	2	292	2	KRT2	12	53039092	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	396587	53039092	80812803	50	2811											
DCN	1634	broad.mit.edu	37	chr12	91552214	91552214	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttggacagataaagtcGttccaacttcaccaaaggtg	13	11	8	9	1	2	1	1	0	1	1	4	2	3	2	2	2	1	1	2	2	4	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:91552214G>A	ENST00000052754.5	-	4	898	c.397C>T	c.(397-399)Cga>Tga	p.R133*	DCN_ENST00000228329.5_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Nonsense_Mutation_p.R133*|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Nonsense_Mutation_p.R133*|DCN_ENST00000547568.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	133					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.R133*(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGATAAAGTCGTTCCAACTTC	0.408																																						uc001tbt.3																			1	Substitution - Nonsense(1)	p.R133*(2)	central_nervous_system(1)	central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(397-399)Cga>Tga		Homo sapiens decorin (DCN), transcript variant A2, mRNA.							131	127	128					12																	91552214		2203	4300	6503	SO:0001587	stop_gained	1634				organ morphogenesis	extracellular space		g.chr12:91552214G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.397C>T	12.37:g.91552214G>A	ENSP00000052754:p.Arg133*					DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Nonsense_Mutation_p.R133*	p.R133*	NM_133503	NP_598010	P07585	PGS2_HUMAN			3	651	-			133					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Nonsense_Mutation	SNP	ENST00000052754.5	37	c.397C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860018	0.91433	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563	.	.	.	5.69	1.07	0.20283	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.2272	0.73359	0.0:0.0:0.2263:0.7737	.	.	.	.	X	133	.	ENSP00000052754:R133X	R	-	1	2	DCN	90076345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.109000	0.31135	0.276000	0.22118	0.650000	0.86243	CGA		0.408	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		A	91552214	G	A	91552214	4	1	44	1	0	0	0	0	0	1	0	0	4297	1153	40	1	702	1	DCN	12	91552214	Nonsense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	38513122	91552214	42299681	51	2812											
POLR3B	55703	broad.mit.edu	37	chr12	106824234	106824234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggaatgctgtgtccttcgGacactcctgaaggagaggta	9	9	15	8	1	0	2	0	1	0	1	3	5	2	4	2	5	1	2	2	5	3	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:106824234G>A	ENST00000228347.4	+	14	1669	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	POLR3B_ENST00000539066.1_Missense_Mutation_p.D425N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	483					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGTCCTTCGGACACTCCTGA	0.522																																						uc001tlp.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1447-1449)Gac>Aac		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.							84	78	80					12																	106824234		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106824234G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1447G>A	12.37:g.106824234G>A	ENSP00000228347:p.Asp483Asn					POLR3B_uc001tlq.3_Missense_Mutation_p.D425N	p.D483N	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN			13	1669	+			483					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1447G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445693	0.96187	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.79141	-1.24;-1.24	5.56	5.56	0.83823	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92210	0.5775	10	0.87932	D	0	-29.4701	19.5257	0.95206	0.0:0.0:1.0:0.0	.	483	Q9NW08	RPC2_HUMAN	N	483;483;425	ENSP00000228347:D483N;ENSP00000445721:D425N	ENSP00000228347:D483N	D	+	1	0	POLR3B	105348364	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	9.429000	0.97481	2.589000	0.87451	0.655000	0.94253	GAC		0.522	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		A	106824234	G	A	106824234	3	1	44	1	0	0	0	0	1	0	0	0	12229	1174	41	3	1501	3	POLR3B	12	106824234	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	15272020	106824234	27027661	52	2813											
RIMBP2	23504	broad.mit.edu	37	chr12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttccggggcccacgggcGgctccagcatgtgcccatgc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	4	3	2	5	4	0	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1921-1923)cCg>cTg		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							36	36	36					12																	130921520		2201	4298	6499	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921520G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1922C>T	12.37:g.130921520G>A	ENSP00000261655:p.Pro641Leu					RIMBP2_uc001uim.3_Missense_Mutation_p.P549L	p.P641L	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	9	2138	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	641			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1922C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748029	0.30955	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.76;2.76	4.63	4.63	0.57726	.	0.136669	0.49916	D	0.000137	T	0.41673	0.1169	M	0.63843	1.955	0.80722	D	1	B;B;D	0.89917	0.063;0.428;1.0	B;B;D	0.64506	0.008;0.06;0.926	T	0.17167	-1.0378	10	0.29301	T	0.29	-13.3458	17.4987	0.87725	0.0:0.0:1.0:0.0	.	549;549;641	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	L	641;549;549;549	ENSP00000261655:P641L;ENSP00000440347:P549L;ENSP00000439159:P549L	ENSP00000261655:P641L	P	-	2	0	RIMBP2	129487473	1.000000	0.71417	0.910000	0.35882	0.048000	0.14542	5.301000	0.65727	2.121000	0.65114	0.561000	0.74099	CCG		0.711	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130921520	G	A	130921520	3	1	44	1	0	0	0	0	1	0	0	0	13363	1116	39	2	1276	2	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	24097286	130921520	2930375	53	2814											
PARP4	143	broad.mit.edu	37	chr13	25016086	25016086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttttggaatatcaggAaaaggcgactcattctcatc	14	11	8	8	1	3	0	3	0	1	0	5	4	3	2	0	3	1	0	0	3	5	4	rs113538547		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:25016086A>G	ENST00000381989.3	-	30	3669	c.3564T>C	c.(3562-3564)ttT>ttC	p.F1188F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1188					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F1188F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAATATCAGGAAAAGGCGACT	0.413																																						uc001upl.3																			1	Substitution - coding silent(1)	p.F1188F(2)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3562-3564)ttT>ttC		Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.							42	45	44					13																	25016086		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25016086A>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3564T>C	13.37:g.25016086A>G							p.F1188F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	29	3670	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1188					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.3564T>C	CCDS9307.1																																																																																				0.413	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		G	25016086	A	G	25016086	2	3	44	1	0	0	0	0	0	0	0	1	11463	243	9	4		4	PARP4	13	25016086	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08		25016086	90153792	54	2815											
RB1	5925	broad.mit.edu	37	chr13	49030485	49030485	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgttttataaaaaaGgttagtagatgattattttc	13	19	6	3	0	1	2	1	1	0	1	2	2	1	2	0	1	0	3	0	1	7	9	rs483352690		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:49030485G>C	ENST00000267163.4	+	19	2098	c.1960G>C	c.(1960-1962)Gtg>Ctg	p.V654L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTATAAAAAAGGTTAGTAGAT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		30	Whole gene deletion(15)|Unknown(10)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|skin(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM034902|CS050405|CS081965|CS083261	RB1	M|S		c.e19+1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						53	51	51					13																	49030485		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49030485G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1960+1G>C	13.37:g.49030485G>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.V654_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2126	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	654		V -> E (in RB).	Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1960_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854399	0.51270	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93019	-3.15	5.97	5.97	0.96955	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.216802	0.41097	D	0.000945	D	0.89842	0.6832	L	0.28115	0.83	0.52099	D	0.999941	B	0.31968	0.349	B	0.33799	0.17	D	0.86416	0.1751	10	0.27785	T	0.31	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	654	P06400	RB_HUMAN	L	633;654	ENSP00000267163:V654L	ENSP00000267163:V654L	V	+	1	0	RB1	47928486	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.809000	0.69172	2.820000	0.97059	0.655000	0.94253	GTG		0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Missense_Mutation	C	49030485	G	C	49030485	5	2	44	1	0	0	0	0	0	0	1	0	13098	1014	35	5	2034	5	RB1	13	49030485	Splice_Site	SNP	G	TCGA-06-0213-01A-01D-1491-08	24014399	49030485	66139393	55	2816											
RIN3	79890	broad.mit.edu	37	chr14	93118565	93118565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccctcccagacgccgcGtttccgagagggtgtcctta	5	9	11	16	4	0	2	0	0	0	2	3	3	3	2	6	1	1	1	6	1	1	2	rs145578489		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:93118565G>A	ENST00000216487.7	+	6	1330	c.1171G>A	c.(1171-1173)Gtt>Att	p.V391I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	391	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CAGACGCCGCGTTTCCGAGAG	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		12188	0		0	False		,,,				2504	0					uc001yap.3																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1171-1173)Gtt>Att		Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.		G	ILE/VAL	12,4394	17.9+/-39.9	0,12,2191	37	39	38		1171	-8.2	0	14	dbSNP_134	38	1,8597	1.2+/-3.3	0,1,4298	yes	missense	RIN3	NM_024832.3	29	0,13,6489	AA,AG,GG		0.0116,0.2724,0.1	benign	391/986	93118565	13,12991	2203	4299	6502	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118565G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1171G>A	14.37:g.93118565G>A	ENSP00000216487:p.Val391Ile					RIN3_uc010auk.3_Missense_Mutation_p.V53I|RIN3_uc001yaq.3_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I	p.V391I	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			5	1323	+		all_cancers(154;0.0701)	391			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1171G>A	CCDS32144.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.012	-1.654297	0.00779	0.002724	1.16E-4	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.05199	3.48	4.08	-8.16	0.01061	.	1.273530	0.06078	N	0.661334	T	0.01254	0.0041	N	0.00237	-1.79	0.19945	N	0.999949	B;B;B;B	0.23128	0.08;0.0;0.0;0.024	B;B;B;B	0.16722	0.016;0.0;0.0;0.004	T	0.49476	-0.8936	10	0.15066	T	0.55	-10.3308	7.5813	0.27965	0.4216:0.3115:0.2669:0.0	.	391;437;316;391	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	I	391;315	ENSP00000216487:V391I	ENSP00000216487:V391I	V	+	1	0	RIN3	92188318	0.000000	0.05858	0.003000	0.11579	0.124000	0.20399	-2.702000	0.00823	-1.861000	0.01153	-1.800000	0.00619	GTT		0.667	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			A	93118565	G	A	93118565	3	1	44	1	0	0	0	0	1	0	0	0	13373	1145	40	1	1193	1	RIN3	14	93118565	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		93118565	14230975	56	2817											
RCOR1	23186	broad.mit.edu	37	chr14	103174815	103174815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttagcttccagataaatCtatagcaagtctggtgaaat	13	14	8	6	0	2	2	0	1	2	1	3	2	3	2	1	1	2	3	1	1	7	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:103174815C>G	ENST00000570597.1	+	6	665	c.665C>G	c.(664-666)tCt>tGt	p.S222C	RCOR1_ENST00000262241.6_Missense_Mutation_p.S225C			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	222	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CCAGATAAATCTATAGCAAGT	0.393																																						uc001ymb.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(664-666)tCt>tGt		Homo sapiens REST corepressor 1 (RCOR1), mRNA.							131	150	144					14																	103174815		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174815C>G	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.665C>G	14.37:g.103174815C>G	ENSP00000459789:p.Ser222Cys						p.S222C	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			5	902	+			222			Interaction with HDAC1.|SANT 1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.665C>G		.	.	.	.	.	.	.	.	.	.	C	25.4	4.632785	0.87660	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.052434	0.85682	D	0.000000	D	0.84497	0.5485	M	0.87971	2.92	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.86042	0.1520	9	0.72032	D	0.01	-17.8216	20.2279	0.98344	0.0:1.0:0.0:0.0	.	222	Q9UKL0	RCOR1_HUMAN	C	222	.	ENSP00000262241:S222C	S	+	2	0	RCOR1	102244568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.702000	0.68332	2.778000	0.95560	0.655000	0.94253	TCT		0.393	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		G	103174815	C	G	103174815	3	3	44	1	0	0	0	0	1	0	0	0	13182	913	32	5	687	5	RCOR1	14	103174815	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	10056250	103174815	4174725	57	2818											
JAG2	3714	broad.mit.edu	37	chr14	105617967	105617967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtgcagacactcaccaagGgcacaggtgggcccgctcca	10	4	12	15	2	1	1	1	0	0	1	2	1	2	1	3	3	1	3	3	3	1	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:105617967G>A	ENST00000331782.3	-	8	1552	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	JAG2_ENST00000347004.2_Silent_p.A383A|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	383	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAAGGGCACAGGTGG	0.652																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1147-1149)gcC>gcT		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.							22	21	21					14																	105617967		2195	4298	6493	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105617967G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1149C>T	14.37:g.105617967G>A						JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.A383A	p.A383A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	7	1553	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	383			EGF-like 4.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.1149C>T	CCDS9998.1																																																																																				0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105617967	G	A	105617967	2	1	44	1	0	0	0	0	0	0	0	1	7935	1219	43	3		3	JAG2	14	105617967	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	2443152	105617967	1731573	58	2819											
TMC3	342125	broad.mit.edu	37	chr15	81624852	81624852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctggcccacggacctcgGgaacctgccctggctgtggg	4	6	17	14	2	0	0	0	0	0	0	1	2	0	2	4	6	2	2	4	6	1	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr15:81624852G>A	ENST00000359440.5	-	22	3346	c.3211C>T	c.(3211-3213)Ccg>Tcg	p.P1071S	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.P1072S|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACGGACCTCGGGAACCTGCCC	0.612																																						uc021ssk.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3211-3213)Ccg>Tcg		Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.							23	27	26					15																	81624852		2093	4226	6319	SO:0001583	missense	342125					integral to membrane		g.chr15:81624852G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3211C>T	15.37:g.81624852G>A	ENSP00000352413:p.Pro1071Ser					TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	p.P1071S	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			21	3211	-			1071						Missense_Mutation	SNP	ENST00000359440.5	37	c.3211C>T	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220545	0.39201	.	.	ENSG00000188869	ENST00000359440	T	0.64085	-0.08	5.2	0.964	0.19655	.	0.407073	0.17843	U	0.160132	T	0.42086	0.1187	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.23261	-1.0193	10	0.45353	T	0.12	-11.9835	3.1124	0.06363	0.1432:0.2566:0.4681:0.1322	.	1071	Q7Z5M5	TMC3_HUMAN	S	1071	ENSP00000352413:P1071S	ENSP00000352413:P1071S	P	-	1	0	TMC3	79411907	0.193000	0.23313	0.138000	0.22173	0.088000	0.18126	2.493000	0.45320	0.208000	0.20626	0.655000	0.94253	CCG		0.612	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81624852	G	A	81624852	3	1	44	1	0	0	0	0	1	0	0	0	15983	1232	43	3	95	3	TMC3	15	81624852	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		81624852	20906540	59	2820											
NPRL3	8131	broad.mit.edu	37	chr16	167362	167362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctcttcggggaaggatCtgttttggagatctgtaaaa	9	14	11	7	1	3	1	0	0	3	1	5	4	4	3	1	4	0	2	1	4	3	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:167362C>G	ENST00000399953.3	-	4	733	c.331G>C	c.(331-333)Gat>Cat	p.D111H	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	111					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						GGGGAAGGATCTGTTTTGGAG	0.393																																						uc002cfr.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(331-333)Gat>Cat		Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.							58	56	56					16																	167362		1849	4085	5934	SO:0001583	missense	8131						protein binding	g.chr16:167362C>G		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.331G>C	16.37:g.167362C>G	ENSP00000382834:p.Asp111His					NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.D33H|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	p.D111H	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN			4	455	-			111					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.331G>C		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645748	0.87958	.	.	ENSG00000103148	ENST00000399953;ENST00000419636	.	.	.	5.37	5.37	0.77165	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.979;0.999	T	0.81373	-0.0962	8	0.56958	D	0.05	-3.7903	18.4759	0.90792	0.0:1.0:0.0:0.0	.	33;111	B7Z220;Q12980	.;NPRL3_HUMAN	H	111;124	.	ENSP00000382834:D111H	D	-	1	0	NPRL3	107362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.689000	0.84165	2.673000	0.90976	0.655000	0.94253	GAT		0.393	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		G	167362	C	G	167362	3	3	44	1	0	0	0	0	1	0	0	0	10598	913	32	5	1417	5	NPRL3	16	167362	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		167362	90187391	60	2821											
CX3CL1	6376	broad.mit.edu	37	chr16	57416501	57416501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagcgtgtgtggggtcagGgacagagccccaggccagag	8	4	18	11	1	1	2	1	0	0	2	1	3	1	3	4	4	2	0	4	4	0	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:57416501G>A	ENST00000006053.6	+	3	862	c.751G>A	c.(751-753)Gga>Aga	p.G251R	CX3CL1_ENST00000565912.1_Missense_Mutation_p.G213R|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G257R	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	251	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGGGGTCAGGGACAGAGCCC	0.692																																						uc002eli.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(751-753)Gga>Aga		Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.							35	40	39					16																	57416501		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416501G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.751G>A	16.37:g.57416501G>A	ENSP00000006053:p.Gly251Arg						p.G251R	NM_002996	NP_002987	P78423	X3CL1_HUMAN			2	818	+			251			Mucin-like stalk.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.751G>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510062	0.27036	.	.	ENSG00000006210	ENST00000006053	T	0.04809	3.55	4.23	3.26	0.37387	.	3.482270	0.02239	U	0.065559	T	0.04815	0.0130	L	0.27053	0.805	0.09310	N	1	P	0.36616	0.561	B	0.27500	0.08	T	0.38200	-0.9672	10	0.87932	D	0	-15.0125	8.2808	0.31900	0.1139:0.0:0.8861:0.0	.	251	P78423	X3CL1_HUMAN	R	251	ENSP00000006053:G251R	ENSP00000006053:G251R	G	+	1	0	CX3CL1	55974002	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	1.234000	0.32660	0.871000	0.35750	0.558000	0.71614	GGA		0.692	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		A	57416501	G	A	57416501	3	1	44	1	0	0	0	0	1	0	0	0	4074	1233	43	3	761	3	CX3CL1	16	57416501	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	57249139	57416501	32938252	61	2822											
SCN4A	6329	broad.mit.edu	37	chr17	62018566	62018566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttgagggcgtccatttcCccagagtcacccaggacctc	7	9	10	15	1	1	2	1	1	0	1	4	3	3	3	5	2	1	1	5	2	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:62018566C>T	ENST00000435607.1	-	24	5152	c.5076G>A	c.(5074-5076)ggG>ggA	p.G1692G	SCN4A_ENST00000578147.1_Silent_p.G1692G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1692					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTCCATTTCCCCAGAGTCAC	0.577																																						uc002jds.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5074-5076)ggG>ggA		Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	Lamotrigine(DB00555)						128	124	125					17																	62018566		2081	4211	6292	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018566C>T	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5076G>A	17.37:g.62018566C>T							p.G1692G	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	5153	-			1692					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5076G>A	CCDS45761.1																																																																																				0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62018566	C	T	62018566	2	4	44	1	0	0	0	0	0	0	0	1	13920	610	22	3		3	SCN4A	17	62018566	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		62018566	19176644	62	2823											
ITGB4	3691	broad.mit.edu	37	chr17	73745120	73745120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaccaccatcatcatcaggGacccaggtaggcagagcctg	11	5	10	15	0	3	1	3	0	0	1	3	2	3	2	5	3	1	2	5	3	1	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:73745120G>A	ENST00000200181.3	+	27	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_ENST00000339591.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000579662.1_Missense_Mutation_p.D1104N|ITGB4_ENST00000450894.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D1104N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1104					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617																																						uc002jpg.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3310-3312)Gac>Aac		Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.							20	23	22					17																	73745120		2202	4298	6500	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73745120G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3310G>A	17.37:g.73745120G>A	ENSP00000200181:p.Asp1104Asn					ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N	p.D1104N	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	3497	+	all_cancers(13;1.5e-07)		1104					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3310G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686922	0.29962	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.34275	1.37;1.37;1.37	5.24	4.06	0.47325	.	0.202568	0.40302	N	0.001140	T	0.25082	0.0609	N	0.14661	0.345	0.46241	D	0.998941	P;P;P	0.43788	0.817;0.722;0.586	B;B;B	0.41299	0.353;0.193;0.193	T	0.13899	-1.0492	10	0.59425	D	0.04	.	14.7111	0.69232	0.082:0.0:0.918:0.0	.	1104;1104;1104	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	N	1104	ENSP00000200181:D1104N;ENSP00000344079:D1104N;ENSP00000400217:D1104N	ENSP00000200181:D1104N	D	+	1	0	ITGB4	71256715	1.000000	0.71417	0.871000	0.34182	0.194000	0.23727	2.840000	0.48215	2.458000	0.83093	0.650000	0.86243	GAC		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73745120	G	A	73745120	3	1	44	1	0	0	0	0	1	0	0	0	7897	1174	41	3	3412	3	ITGB4	17	73745120	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	11726554	73745120	7450090	63	2824											
PRKCSH	5589	broad.mit.edu	37	chr19	11559895	11559895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctctcacagcaccTggggctcatggattggcccc	5	10	11	15	0	3	0	2	0	1	0	4	1	3	1	4	4	1	2	4	4	0	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:11559895T>C	ENST00000589838.1	+	15	1345	c.1345T>C	c.(1345-1347)Tgg>Cgg	p.W449R	PRKCSH_ENST00000587327.1_Missense_Mutation_p.W446R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.W456R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.W446R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.W446R|PRKCSH_ENST00000252455.2_Missense_Mutation_p.W449R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	449	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCACAGCACCTGGGGCTCATG	0.662																																						uc010xlz.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1366-1368)Tgg>Cgg		Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.							51	53	52					19																	11559895		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559895T>C		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1345T>C	19.37:g.11559895T>C	ENSP00000465461:p.Trp449Arg					PRKCSH_uc002mrt.3_Missense_Mutation_p.W449R|PRKCSH_uc002mru.3_Missense_Mutation_p.W446R|PRKCSH_uc010dyb.3_Missense_Mutation_p.W446R	p.W456R	NM_002743	NP_002734	P14314	GLU2B_HUMAN			15	1702	+			449			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1366T>C	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019597	0.35606	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.81247	-1.47;-1.47	4.67	2.54	0.30619	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;1.0	D;D;D;D	0.87578	0.998;0.998;0.945;0.997	D	0.86199	0.1617	10	0.87932	D	0	-15.8327	5.8542	0.18710	0.1475:0.0843:0.0:0.7682	.	456;456;446;449	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	R	449;446	ENSP00000252455:W449R;ENSP00000395616:W446R	ENSP00000252455:W449R	W	+	1	0	PRKCSH	11420895	1.000000	0.71417	0.907000	0.35723	0.013000	0.08279	7.084000	0.76866	0.168000	0.19655	-0.256000	0.11100	TGG		0.662	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			C	11559895	T	C	11559895	3	2	44	1	0	0	0	0	1	0	0	0	12516	1580	55	4	1424	4	PRKCSH	19	11559895	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08		11559895	47569088	64	2825											
B3GNT8	593	broad.mit.edu	37	chr19	41932546	41932546	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctcagggttggctggCgtggggcttggcggggtgcc	1	9	23	8	2	1	0	1	0	0	0	1	0	1	0	1	9	1	4	1	9	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:41932546C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.T46T|B3GNT8_ENST00000601379.1_Intron|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGTTGGCTGGCGTGGGGCTTG	0.662																																						uc002oqs.3																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(136-138)acG>acA		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.							31	29	30					19																	41932546		2203	4297	6500	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932546C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932546C>T						B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Silent_p.T46T	p.T46T	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			2	592	-			46					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.138G>A	CCDS12581.1																																																																																				0.662	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		T	41932546	C	T	41932546	1	4	44	0	1	0	0	0	0	0	0	0	1263	755	27	1		1	B3GNT8	19	41932546	IGR	SNP	C	TCGA-06-0213-01A-01D-1491-08	30372651	41932546	17196437	65	2826											
SIRPA	140885	broad.mit.edu	37	chr20	1895993	1895993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttttccatccgcatcggtAacatcaccccagcagatgcc	10	9	6	16	2	1	1	1	0	0	1	4	1	3	1	5	1	3	3	5	1	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr20:1895993A>G	ENST00000358771.4	+	2	480	c.328A>G	c.(328-330)Aac>Gac	p.N110D	SIRPA_ENST00000356025.3_Missense_Mutation_p.N110D|SIRPA_ENST00000400068.3_Missense_Mutation_p.N110D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	110	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCGCATCGGTAACATCACCCC	0.502																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(328-330)Aac>Gac		Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.							142	118	126					20																	1895993		2203	4294	6497	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1895993A>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.328A>G	20.37:g.1895993A>G	ENSP00000351621:p.Asn110Asp					SIRPA_uc010zps.2_Missense_Mutation_p.N90D|SIRPA_uc002wfr.3_Missense_Mutation_p.N110D|SIRPA_uc002wfs.3_Missense_Mutation_p.N110D|SIRPA_uc002wft.3_Missense_Mutation_p.N110D	p.N110D	NM_001040022	NP_542970	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	2	688	+			110			Ig-like V-type.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.328A>G	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825884	0.32237	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.65916	-0.18;-0.18;-0.18	5.11	1.37	0.22104	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.169933	0.41396	N	0.000894	T	0.49167	0.1541	L	0.49699	1.58	0.38396	D	0.945544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.19946	0.016;0.005;0.027	T	0.42327	-0.9458	10	0.45353	T	0.12	.	3.8036	0.08768	0.5976:0.1867:0.2157:0.0	.	90;110;110	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	110	ENSP00000382941:N110D;ENSP00000348307:N110D;ENSP00000351621:N110D	ENSP00000348307:N110D	N	+	1	0	SIRPA	1843993	0.443000	0.25641	0.995000	0.50966	0.705000	0.40729	0.426000	0.21363	0.431000	0.26258	0.454000	0.30748	AAC		0.502	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		G	1895993	A	G	1895993	3	3	44	1	0	0	0	0	1	0	0	0	14332	362	13	4	334	4	SIRPA	20	1895993	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08		1895993	61129527	66	2827											
CACNA1F	778	broad.mit.edu	37	chrX	49077514	49077514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggccttcattctcctgtgGgagatccttctcattgctct	5	15	8	13	0	4	1	2	0	3	1	7	2	5	1	3	2	1	1	3	2	0	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:49077514G>T	ENST00000376265.2	-	18	2408	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P772T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P718T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	783					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTCCTGTGGGAGATCCTTC	0.502																																						uc004dnb.3																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(2347-2349)Cca>Aca		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	Verapamil(DB00661)						226	142	171					X																	49077514		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49077514G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2347C>A	X.37:g.49077514G>T	ENSP00000365441:p.Pro783Thr					CACNA1F_uc010nip.3_Missense_Mutation_p.P772T	p.P783T	NM_005183	NP_005174	O60840	CAC1F_HUMAN			17	2409	-			783					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2347C>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	6.241	0.412602	0.11812	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96232	-3.95;-3.87;-3.86	3.14	3.14	0.36123	.	32.793600	0.00166	N	0.000000	D	0.94709	0.8293	L	0.51422	1.61	0.09310	N	1	P;P	0.38167	0.621;0.487	B;B	0.39904	0.313;0.166	D	0.86249	0.1648	10	0.18710	T	0.47	.	8.9455	0.35756	0.0:0.0:1.0:0.0	.	772;783	F5CIQ9;O60840	.;CAC1F_HUMAN	T	718;772;783	ENSP00000365427:P718T;ENSP00000321618:P772T;ENSP00000365441:P783T	ENSP00000321618:P772T	P	-	1	0	CACNA1F	48964458	0.493000	0.26035	0.006000	0.13384	0.095000	0.18619	2.312000	0.43726	1.843000	0.53566	0.179000	0.17066	CCA		0.502	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49077514	G	T	49077514	3	4	44	1	0	0	0	0	1	0	0	0	2543	1232	43	5	3710	5	CACNA1F	23	49077514	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		49077514	106193046	67	2828											
TAF1	6872	broad.mit.edu	37	chrX	70587386	70587386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggcttgggggctttggGgctgggcagcctgatcactg	4	9	19	9	0	1	1	1	1	0	0	1	1	1	1	1	7	1	5	1	7	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:70587386G>A	ENST00000373790.4	+	2	269	c.218G>A	c.(217-219)gGg>gAg	p.G73E	TAF1_ENST00000276072.3_Missense_Mutation_p.G73E|TAF1_ENST00000449580.1_Missense_Mutation_p.G73E|TAF1_ENST00000423759.1_Missense_Mutation_p.G73E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	73	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G73E(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGGCTTTGGGGCTGGGCAGC	0.522																																						uc004dzu.4																			1	Substitution - Missense(1)	p.G73E(2)	central_nervous_system(1)	breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(217-219)gGg>gAg		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							90	72	78					X																	70587386		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70587386G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.218G>A	X.37:g.70587386G>A	ENSP00000362895:p.Gly73Glu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.G73E	p.G73E	NM_138923	NP_620278	P21675	TAF1_HUMAN			1	269	+	Renal(35;0.156)	all_lung(315;0.000321)	73			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.218G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.429577	0.83776	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.16073	2.5;2.55;2.42;2.37	4.51	3.61	0.41365	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.87578	0.777;0.998	T	0.45411	-0.9263	10	0.87932	D	0	.	13.7815	0.63085	0.0:0.1509:0.8491:0.0	.	73;73	P21675;P21675-2	TAF1_HUMAN;.	E	73	ENSP00000362895:G73E;ENSP00000389000:G73E;ENSP00000406549:G73E;ENSP00000276072:G73E	ENSP00000276072:G73E	G	+	2	0	TAF1	70504111	1.000000	0.71417	0.955000	0.39395	0.992000	0.81027	8.606000	0.90888	0.995000	0.38917	0.513000	0.50165	GGG		0.522	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70587386	G	A	70587386	3	1	44	1	0	0	0	0	1	0	0	0	15510	1232	43	3	224	3	TAF1	23	70587386	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	21509872	70587386	84683174	68	2829											
ATRX	546	broad.mit.edu	37	chrX	76872167	76872167	+	Frame_Shift_Del	DEL	A	A	-																															catattcgtgttttggaggcAagaattttgttaatgctgta																										TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:76872167delA	ENST00000373344.5	-	22	5694	c.5480delT	c.(5479-5481)ttgfs	p.L1827fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L1789fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1827					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTGGAGGCAAGAATTTTGT	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.L1827L(1)|p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5479-5481)ttgfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						123	109	114					X																	76872167		2202	4291	6493	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872167delA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5480delT	X.37:g.76872167delA	ENSP00000362441:p.Leu1827fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.L1789fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L1612fs	p.L1827fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			21	5712	-			1827					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5480delT	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76872167	A	-	76872167	7	5	44	1	0	1	0	1	0	0	0	0	1208	131	5	0	2054	0	ATRX	23	76872167	Frame_Shift_Del	DEL	A	TCGA-06-0213-01A-01D-1491-08	6284781	76872167	78398393	69	2830											
ARMCX2	9823	broad.mit.edu	37	chrX	100910782	100910782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagatgtagtgcataagTaaaaaagggaacctttattg	15	11	9	6	0	0	1	0	0	0	1	1	2	1	2	2	1	2	3	2	1	7	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:100910782T>G	ENST00000328766.5	-	5	2246	c.1793A>C	c.(1792-1794)tAc>tCc	p.Y598S	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.Y598S|ARMCX2_ENST00000330154.2_Missense_Mutation_p.Y598S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	598						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGTGCATAAGTAAAAAAGGGA	0.328																																						uc010nnt.2																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1792-1794)tAc>tCc		Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.							77	79	78					X																	100910782		2203	4299	6502	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100910782T>G	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1793A>C	X.37:g.100910782T>G	ENSP00000331662:p.Tyr598Ser					ARMCX2_uc004eid.2_Missense_Mutation_p.Y598S|ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc022caq.1_Missense_Mutation_p.Y598S	p.Y598S	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			4	2602	-			598					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1793A>C	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	5.411	0.261042	0.10239	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.27720	1.65;1.65;1.65	4.1	2.91	0.33838	Armadillo-like helical (1);	0.588535	0.18577	N	0.137163	T	0.10121	0.0248	N	0.02011	-0.69	0.30225	N	0.796401	B	0.14438	0.01	B	0.17979	0.02	T	0.21895	-1.0232	10	0.18276	T	0.48	-0.9532	5.5418	0.17041	0.3136:0.0:0.0:0.6864	.	598	Q7L311	ARMX2_HUMAN	S	598	ENSP00000331662:Y598S;ENSP00000328631:Y598S;ENSP00000349281:Y598S	ENSP00000331662:Y598S	Y	-	2	0	ARMCX2	100797438	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.421000	0.21280	0.691000	0.31592	0.345000	0.21793	TAC		0.328	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		G	100910782	T	G	100910782	3	3	44	1	0	0	0	0	1	0	0	0	960	1638	57	5	109	5	ARMCX2	23	100910782	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08	24038615	100910782	54359778	70	2831											
RNF128	79589	broad.mit.edu	37	chrX	106038858	106038858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaattctgtggcagtggAtgttattcctcatgttgaca	10	14	10	7	0	2	1	1	1	1	0	3	2	3	2	1	2	1	4	1	2	2	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:106038858A>G	ENST00000255499.2	+	7	1452	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	RNF128_ENST00000324342.3_Missense_Mutation_p.D375G	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	401					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGGCAGTGGATGTTATTCCT	0.358																																						uc004eml.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(1201-1203)gAt>gGt		Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.							177	176	176					X																	106038858		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106038858A>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1202A>G	X.37:g.106038858A>G	ENSP00000255499:p.Asp401Gly					RNF128_uc004emk.3_Missense_Mutation_p.D375G	p.D401G	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			6	1452	+			401					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.1202A>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610252	0.28712	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.13778	2.75;2.56	5.71	5.71	0.89125	.	0.218778	0.38111	N	0.001807	T	0.09069	0.0224	L	0.29908	0.895	0.29031	N	0.885716	B;P	0.38370	0.118;0.628	B;B	0.30855	0.026;0.121	T	0.16305	-1.0407	10	0.45353	T	0.12	.	9.0324	0.36267	0.8171:0.1829:0.0:0.0	.	401;375	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	G	375;401	ENSP00000316127:D375G;ENSP00000255499:D401G	ENSP00000255499:D401G	D	+	2	0	RNF128	105925514	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.745000	0.47459	1.900000	0.55004	0.481000	0.45027	GAT		0.358	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		G	106038858	A	G	106038858	3	3	44	1	0	0	0	0	1	0	0	0	13436	333	12	4	1638	4	RNF128	23	106038858	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	5128076	106038858	49231702	71	2832											
LAMP2	3920	broad.mit.edu	37	chrX	119580241	119580241	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacggcagctgcctgtGgagtgagttgtattggggtt	7	12	17	5	1	0	2	0	2	0	1	0	4	0	3	1	4	3	5	1	4	2	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:119580241G>T	ENST00000200639.4	-	6	919	c.783C>A	c.(781-783)tcC>tcA	p.S261S	LAMP2_ENST00000371335.4_Silent_p.S261S|LAMP2_ENST00000538785.1_Silent_p.S150S|LAMP2_ENST00000434600.2_Silent_p.S261S|LAMP2_ENST00000540603.1_Silent_p.S214S			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	261	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGCTGCCTGTGGAGTGAGTTG	0.423																																						uc004ess.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(781-783)tcC>tcA		Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.							108	92	97					X																	119580241		2203	4300	6503	SO:0001819	synonymous_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119580241G>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.783C>A	X.37:g.119580241G>T						LAMP2_uc004est.4_Silent_p.S261S|LAMP2_uc011mtz.2_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S	p.S261S	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN			5	963	-			261			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.783C>A	CCDS14599.1																																																																																				0.423	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			T	119580241	G	T	119580241	2	4	44	1	0	0	0	0	0	0	0	1	8618	1335	47	5		5	LAMP2	23	119580241	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	13541383	119580241	35690319	72	2833											
GRIA3	2892	broad.mit.edu	37	chrX	122528885	122528885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattacaggtttccagattGtcaacaatgaaaaccctatg	15	11	6	9	0	1	2	1	1	0	1	2	2	2	2	2	1	3	1	2	1	6	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122528885G>A	ENST00000371251.1	+	6	869	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	GRIA3_ENST00000542149.1_Missense_Mutation_p.V273I|GRIA3_ENST00000264357.5_Missense_Mutation_p.V273I|GRIA3_ENST00000541091.1_Missense_Mutation_p.V257I|GRIA3_ENST00000371256.5_Missense_Mutation_p.V273I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	273					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTTCCAGATTGTCAACAATGA	0.438																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(817-819)Gtc>Atc		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						133	121	125					X																	122528885		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122528885G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.817G>A	X.37:g.122528885G>A	ENSP00000360297:p.Val273Ile					GRIA3_uc004etr.4_Missense_Mutation_p.V273I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V257I	p.V273I	NM_007325	NP_015564	P42263	GRIA3_HUMAN			5	1109	+			273					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.817G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227122	0.22542	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.52	5.52	0.82312	Extracellular ligand-binding receptor (1);	0.224000	0.46442	N	0.000298	T	0.80644	0.4662	L	0.49778	1.585	0.58432	D	0.999996	B;B;B	0.20550	0.046;0.001;0.001	B;B;B	0.23275	0.045;0.008;0.005	T	0.75986	-0.3124	10	0.39692	T	0.17	.	17.5067	0.87748	0.0:0.0:1.0:0.0	.	257;273;273	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	273;273;273;273;257	ENSP00000264357:V273I;ENSP00000446146:V273I;ENSP00000360302:V273I;ENSP00000360297:V273I;ENSP00000446440:V257I	ENSP00000264357:V273I	V	+	1	0	GRIA3	122356566	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	6.061000	0.71148	2.436000	0.82500	0.594000	0.82650	GTC		0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		A	122528885	G	A	122528885	3	1	44	1	0	0	0	0	1	0	0	0	6769	1377	48	3	839	3	GRIA3	23	122528885	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	2948644	122528885	32741675	73	2834											
THOC2	57187	broad.mit.edu	37	chrX	122761607	122761607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgacttctcgttcataGctggtgtgtggaactgcaag	8	15	11	7	1	2	1	1	1	1	0	3	2	2	2	0	2	3	3	0	2	4	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122761607G>A	ENST00000245838.8	-	23	2725	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	THOC2_ENST00000355725.4_Silent_p.S898S|THOC2_ENST00000491737.1_Silent_p.S783S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	898					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCGTTCATAGCTGGTGTGTG	0.388																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2692-2694)agC>agT		Homo sapiens THO complex 2 (THOC2), mRNA.							178	150	159					X																	122761607		1946	4152	6098	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122761607G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2694C>T	X.37:g.122761607G>A						THOC2_uc011muh.1_Silent_p.S823S|Mir_584_uc022cdq.1_5'Flank	p.S898S	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			22	2726	-			898					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.2694C>T	CCDS43988.1																																																																																				0.388	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122761607	G	A	122761607	2	1	44	1	0	0	0	0	0	0	0	1	15862	962	34	3		3	THOC2	23	122761607	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	232722	122761607	32508953	74	2835											
CROCC	9696	broad.mit.edu	37	chr1	17266398	17266398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccccaggacatgcgtGggcgctatgaggcaagccag	10	4	13	14	2	0	1	0	1	0	0	0	2	0	2	4	3	2	2	4	3	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:17266398G>A	ENST00000375541.5	+	13	1687	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACATGCGTGGGCGCTATGA	0.647																																						uc001azt.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1618-1620)Ggg>Agg		Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.							52	49	50					1																	17266398		2202	4296	6498	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266398G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1618G>A	1.37:g.17266398G>A	ENSP00000364691:p.Gly540Arg					CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	p.G540R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	12	1687	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	540						Missense_Mutation	SNP	ENST00000375541.5	37	c.1618G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125262	0.56721	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09630	2.96	4.89	4.89	0.63831	.	.	.	.	.	T	0.23688	0.0573	L	0.47716	1.5	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.992	D;D;D	0.72075	0.962;0.976;0.914	T	0.02064	-1.1220	9	0.13108	T	0.6	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	403;403;540	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	R	540;421	ENSP00000364691:G540R	ENSP00000364691:G540R	G	+	1	0	CROCC	17138985	0.967000	0.33354	0.959000	0.39883	0.906000	0.53458	1.542000	0.36137	2.651000	0.90000	0.561000	0.74099	GGG		0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17266398	G	A	17266398	3	1	45	1	0	0	0	0	1	0	0	0	3893	1348	47	3	1668	3	CROCC	1	17266398	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		17266398	231984223	1	2836											
CLIC4	25932	broad.mit.edu	37	chr1	25124266	25124266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaaagcataggaaactgcCccttttcccagaggctcttc	10	10	9	12	0	1	2	0	1	1	1	3	3	2	3	3	2	3	2	3	2	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:25124266C>T	ENST00000374379.4	+	2	303	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	36	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		AGGAAACTGCCCCTTTTCCCA	0.403																																						uc001bjo.2																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(106-108)Ccc>Tcc		Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.							133	133	133					1																	25124266		2203	4300	6503	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25124266C>T	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.106C>T	1.37:g.25124266C>T	ENSP00000363500:p.Pro36Ser					CLIC4_uc001bjp.1_Intron	p.P36S	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	1	391	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	36			Required for insertion into the membrane (Probable).		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.106C>T	CCDS256.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854216	0.91355	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.39406	1.08	5.96	5.05	0.67936	Thioredoxin-like fold (2);	0.048377	0.85682	N	0.000000	T	0.52208	0.1720	M	0.91510	3.215	0.42943	D	0.99435	P	0.38992	0.653	B	0.34301	0.179	T	0.64956	-0.6285	10	0.66056	D	0.02	-11.9903	14.8752	0.70488	0.0:0.9307:0.0:0.0693	.	36	Q9Y696	CLIC4_HUMAN	S	36	ENSP00000363500:P36S	ENSP00000363500:P36S	P	+	1	0	CLIC4	24996853	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.460000	0.80816	1.536000	0.49237	-0.140000	0.14226	CCC		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		T	25124266	C	T	25124266	3	4	45	1	0	0	0	0	1	0	0	0	3528	623	22	3	112	3	CLIC4	1	25124266	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	7857868	25124266	224126355	2	2837											
BSDC1	55108	broad.mit.edu	37	chr1	32843632	32843632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcccgctgcttcagggcGtccctccgggcctgctcctg	1	9	12	19	4	1	0	1	0	0	0	5	0	5	0	6	2	2	3	6	2	0	1	rs371990220		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:32843632G>A	ENST00000455895.2	-	8	648	c.615C>T	c.(613-615)gaC>gaT	p.D205D	BSDC1_ENST00000526031.1_Silent_p.D110D|BSDC1_ENST00000449308.1_Silent_p.D205D|BSDC1_ENST00000413080.1_Splice_Site|BSDC1_ENST00000446293.2_Silent_p.D222D|BSDC1_ENST00000419121.2_Silent_p.D149D|BSDC1_ENST00000341071.7_Silent_p.D222D	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	205										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTCAGGGCGTCCCTCCGGG	0.622																																						uc001bvi.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(664-666)gaC>gaT		Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.		G	,,,	1,4405		0,1,2202	57	54	55		666,447,330,615	-1.3	1	1		55	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BSDC1	NM_001143888.1,NM_001143889.1,NM_001143890.1,NM_018045.6	,,,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,,,	222/448,149/375,110/336,205/431	32843632	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55108						protein binding	g.chr1:32843632G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.615C>T	1.37:g.32843632G>A						BSDC1_uc001bvh.4_Silent_p.D205D|BSDC1_uc010ohg.2_Silent_p.D222D|BSDC1_uc010ohh.2_Silent_p.D149D|BSDC1_uc010ohi.2_Silent_p.D110D|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.D101D	p.D222D			Q9NW68	BSDC1_HUMAN			7	713	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	205					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	ENST00000455895.2	37	c.666C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373498	0.42105	2.27E-4	3.49E-4	ENSG00000160058	ENST00000413080	.	.	.	5.45	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5245	0.02523	0.4025:0.2603:0.2221:0.1151	.	.	.	.	.	-1	.	.	.	-	.	.	BSDC1	32616219	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	0.452000	0.21795	-0.060000	0.13132	-0.290000	0.09829	.		0.622	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		A	32843632	G	A	32843632	2	1	45	1	0	0	0	0	0	0	0	1	1528	1136	40	1		1	BSDC1	1	32843632	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	7719366	32843632	216406989	3	2838											
IL12RB2	3595	broad.mit.edu	37	chr1	67787302	67787302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgcgtgcaagagaggcGatgtgactgtgaagccttcc	10	8	14	9	2	0	4	0	2	0	2	1	6	1	4	2	1	3	1	2	1	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:67787302G>A	ENST00000262345.1	+	3	734	c.94G>A	c.(94-96)Gat>Aat	p.D32N	IL12RB2_ENST00000371000.1_Missense_Mutation_p.D32N|IL12RB2_ENST00000541374.1_Missense_Mutation_p.D32N|IL12RB2_ENST00000544434.1_Missense_Mutation_p.D32N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	32					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CAAGAGAGGCGATGTGACTGT	0.393																																						uc001ddu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(94-96)Gat>Aat		Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.							124	112	116					1																	67787302		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787302G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.94G>A	1.37:g.67787302G>A	ENSP00000262345:p.Asp32Asn					IL12RB2_uc010oqi.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.2_Non-coding_Transcript	p.D32N	NM_001559	NP_001550	Q99665	I12R2_HUMAN			2	734	+			32					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.94G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	1.625	-0.520567	0.04171	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.56	3.24	0.37175	Immunoglobulin C2-set-like, ligand-binding (1);	0.834247	0.11388	N	0.569087	T	0.50171	0.1600	L	0.32530	0.975	0.09310	N	1	B;P;B;D	0.53151	0.282;0.645;0.239;0.958	B;B;B;P	0.46275	0.039;0.104;0.023;0.51	T	0.32613	-0.9900	10	0.23302	T	0.38	-1.7228	5.8366	0.18611	0.1343:0.1789:0.6868:0.0	.	32;32;32;32	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	N	32	ENSP00000262345:D32N;ENSP00000360039:D32N;ENSP00000445276:D32N;ENSP00000442443:D32N	ENSP00000262345:D32N	D	+	1	0	IL12RB2	67559890	0.090000	0.21635	0.066000	0.19879	0.001000	0.01503	1.138000	0.31491	0.443000	0.26582	-0.274000	0.10170	GAT		0.393	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		A	67787302	G	A	67787302	3	1	45	1	0	0	0	0	1	0	0	0	7627	1058	37	2	100	2	IL12RB2	1	67787302	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	34943670	67787302	181463319	4	2839											
SYDE2	84144	broad.mit.edu	37	chr1	85624652	85624652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttgctataattttctccGatttttctatcttctgaagg	8	21	5	7	1	4	1	0	1	4	0	5	2	4	1	1	1	1	1	1	1	4	10	rs371604572		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:85624652G>A	ENST00000341460.5	-	7	3415	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1122					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATTTTCTCCGATTTTTCTAT	0.363																																						uc009wcm.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(3364-3366)atC>atT		Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.		G		3,3669		0,3,1833	101	92	95		3366	1.2	0.9	1		95	1,8185		0,1,4092	no	coding-synonymous	SYDE2	NM_032184.1		0,4,5925	AA,AG,GG		0.0122,0.0817,0.0337		1122/1195	85624652	4,11854	1836	4093	5929	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624652G>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3366C>T	1.37:g.85624652G>A							p.I1122I	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	6	3415	-			1122					Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.3366C>T	CCDS44169.1																																																																																				0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			A	85624652	G	A	85624652	2	1	45	1	0	0	0	0	0	0	0	1	15433	1048	37	2		2	SYDE2	1	85624652	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	17837350	85624652	163625969	5	2840											
GBP3	2635	broad.mit.edu	37	chr1	89481028	89481028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaggtgtgttctggctttTtggggtgaggcacacaccac	7	12	13	9	0	1	1	0	1	1	0	1	1	1	1	1	5	0	3	1	5	1	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:89481028T>C	ENST00000370481.4	-	3	480	c.260A>G	c.(259-261)aAa>aGa	p.K87R	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	136	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTGGCTTTTTGGGGTGAGG	0.483																																						uc001dmt.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(259-261)aAa>aGa		Homo sapiens guanylate binding protein 3 (GBP3), mRNA.							165	156	159					1																	89481028		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89481028T>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.260A>G	1.37:g.89481028T>C	ENSP00000359512:p.Lys87Arg					GBP3_uc010oss.2_Missense_Mutation_p.K8R|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.K87R	p.K87R	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	465	-		Lung NSC(277;0.123)	87					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.260A>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	T	2.388	-0.340440	0.05243	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.74632	-0.86;-0.86	3.27	0.588	0.17445	Guanylate-binding protein, N-terminal (1);	0.652169	0.15411	N	0.263799	T	0.29458	0.0734	N	0.25201	0.72	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.23762	-1.0179	10	0.14252	T	0.57	.	4.6392	0.12540	0.1865:0.0:0.3825:0.431	.	87	Q9H0R5	GBP3_HUMAN	R	87	ENSP00000359512:K87R;ENSP00000235878:K87R	ENSP00000235878:K87R	K	-	2	0	GBP3	89253616	0.000000	0.05858	0.012000	0.15200	0.730000	0.41778	-0.321000	0.08018	-0.009000	0.14296	0.332000	0.21555	AAA		0.483	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		C	89481028	T	C	89481028	3	2	45	1	0	0	0	0	1	0	0	0	6275	1841	64	4	1563	4	GBP3	1	89481028	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	3856376	89481028	159769593	6	2841											
FAM46C	54855	broad.mit.edu	37	chr1	118166248	118166248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcaaccttcttgtgcGggacttcaggcccacagacc	9	8	10	14	1	2	1	1	0	1	1	2	2	2	2	3	2	4	2	3	2	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:118166248G>A	ENST00000369448.3	+	2	1005	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	253								p.R253L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTTCTTGTGCGGGACTTCAGG	0.517			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																												uc021osq.1				Rec	yes		1	1p12	54855	"Mis, F, O"	"family with sequence similarity 46, member C"			L			MM		1	Substitution - Missense(1)	p.R253L(2)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(757-759)cGg>cAg		Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.							56	60	59					1																	118166248		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166248G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.758G>A	1.37:g.118166248G>A	ENSP00000358458:p.Arg253Gln	Multiple Myeloma(3;1.13e-06)				FAM46C_uc001ehe.3_Missense_Mutation_p.R253Q	p.R253Q	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	0	758	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	253					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.758G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758718	0.89843	.	.	ENSG00000183508	ENST00000369448	T	0.30714	1.52	5.71	5.71	0.89125	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000011	T	0.52500	0.1738	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.54357	-0.8306	10	0.62326	D	0.03	-14.5245	18.8391	0.92174	0.0:0.0:1.0:0.0	.	253	Q5VWP2	FA46C_HUMAN	Q	253	ENSP00000358458:R253Q	ENSP00000358458:R253Q	R	+	2	0	FAM46C	117967771	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.450000	0.97607	2.697000	0.92050	0.561000	0.74099	CGG		0.517	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		A	118166248	G	A	118166248	3	1	45	1	0	0	0	0	1	0	0	0	5567	1116	39	2	760	2	FAM46C	1	118166248	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	28685220	118166248	131084373	7	2842											
HRNR	388697	broad.mit.edu	37	chr1	152192393	152192393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagactcatatgggccaCggcttgaagacctccctgag	10	7	11	13	1	1	4	1	2	0	2	2	4	2	4	4	2	1	1	4	2	2	2	rs375817815		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:152192393C>T	ENST00000368801.2	-	3	1787	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	571					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R571H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTTGAAGA	0.592																																						uc001ezt.1																			1	Substitution - Missense(1)	p.R571H(2)|p.S570S(1)	large_intestine(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1711-1713)cGt>cAt		Homo sapiens hornerin (HRNR), mRNA.		C	HIS/ARG	0,4406		0,0,2203	178	185	183		1712	-7.4	0	1		183	2,8598		0,2,4298	no	missense	HRNR	NM_001009931.1	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	571/2851	152192393	2,13004	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192393C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1712G>A	1.37:g.152192393C>T	ENSP00000357791:p.Arg571His						p.R571H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1788	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		571					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1712G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	9.013	0.982928	0.18889	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.04194	3.68	3.68	-7.37	0.01412	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	B	0.31016	0.123	T	0.51498	-0.8698	9	0.12766	T	0.61	.	1.3093	0.02094	0.4657:0.1179:0.1168:0.2996	.	571	Q86YZ3	HORN_HUMAN	H	571	ENSP00000357791:R571H	ENSP00000357791:R571H	R	-	2	0	HRNR	150459017	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.653000	0.00005	-1.564000	0.01678	-0.282000	0.10007	CGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152192393	C	T	152192393	3	4	45	1	0	0	0	0	1	0	0	0	7359	536	19	1	6844	1	HRNR	1	152192393	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	34026145	152192393	97058228	8	2843											
SPTA1	6708	broad.mit.edu	37	chr1	158639308	158639308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccttcagcaatctacGtctagtggcagccttttcac	8	13	7	13	1	4	1	2	1	2	0	5	1	5	1	2	1	3	2	2	1	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:158639308G>A	ENST00000368147.4	-	14	1903	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	575					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAATCTACGTCTAGTGGCA	0.448																																						uc001fst.1																			0		p.R575H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1723-1725)Cgt>Tgt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							171	159	163					1																	158639308		1939	4145	6084	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639308G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1723C>T	1.37:g.158639308G>A	ENSP00000357129:p.Arg575Cys						p.R575C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			13	1922	-	all_hematologic(112;0.0378)		575					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1723C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464772	0.63513	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.72	2.73	0.32206	.	0.319683	0.16110	N	0.229160	T	0.65688	0.2715	M	0.85630	2.765	0.41841	D	0.990124	D	0.89917	1.0	D	0.76575	0.988	T	0.70088	-0.4968	10	0.59425	D	0.04	.	12.2276	0.54470	0.0:0.0:0.6804:0.3196	.	575	P02549	SPTA1_HUMAN	C	575	ENSP00000357130:R575C;ENSP00000357129:R575C	ENSP00000357129:R575C	R	-	1	0	SPTA1	156905932	1.000000	0.71417	0.001000	0.08648	0.010000	0.07245	3.869000	0.56062	0.631000	0.30412	0.655000	0.94253	CGT		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158639308	G	A	158639308	3	1	45	1	0	0	0	0	1	0	0	0	15115	1145	40	1	5692	1	SPTA1	1	158639308	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	6446915	158639308	90611313	9	2844											
CCDC19	25790	broad.mit.edu	37	chr1	159846467	159846467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtttccatcttcttccGcgcattttccttttcctttc	2	21	3	15	2	3	0	0	0	3	0	8	0	7	0	4	0	0	2	4	0	0	8			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:159846467G>A	ENST00000368099.4	-	10	1295	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CCDC19_ENST00000426543.2_Missense_Mutation_p.R326W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTTCTTCCGCGCATTTTCC	0.577																																						uc001fui.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1231-1233)Cgg>Tgg		Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.							133	103	114					1																	159846467		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159846467G>A																												ENST00000368099.4:c.1231C>T	1.37:g.159846467G>A	ENSP00000357079:p.Arg411Trp					CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R326W|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	p.R411W	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		9	1249	-	all_hematologic(112;0.0597)		411						Missense_Mutation	SNP	ENST00000368099.4	37	c.1231C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	g	15.94	2.980216	0.53827	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10477	2.87;2.87	5.16	4.18	0.49190	.	0.524332	0.21595	N	0.072030	T	0.01905	0.0060	N	0.24115	0.695	0.09310	N	1	P	0.46327	0.876	B	0.24541	0.054	T	0.45498	-0.9257	9	.	.	.	-30.5358	12.4987	0.55944	0.0:0.0:0.8324:0.1676	.	411	Q9UL16	CCD19_HUMAN	W	411;326	ENSP00000357079:R411W;ENSP00000403044:R326W	.	R	-	1	2	CCDC19	158113091	0.442000	0.25633	0.943000	0.38184	0.328000	0.28507	1.638000	0.37165	2.571000	0.86741	0.486000	0.48141	CGG		0.577	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			A	159846467	G	A	159846467	3	1	45	1	0	0	0	0	1	0	0	0	2795	1086	38	1	436	1	CCDC19	1	159846467	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	1207159	159846467	89404154	10	2845											
ANGEL2	90806	broad.mit.edu	37	chr1	213178541	213178541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagcattgccaattgcGtcagcttaatatcacctcgc	10	11	7	13	2	2	0	2	0	0	0	3	0	2	0	3	0	4	3	3	0	4	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:213178541G>A	ENST00000366962.3	-	5	1122	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ANGEL2_ENST00000540642.1_Missense_Mutation_p.T197M|ANGEL2_ENST00000535388.1_Missense_Mutation_p.T154M|ANGEL2_ENST00000360506.2_Missense_Mutation_p.T154M|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000544555.1_Missense_Mutation_p.T154M	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	323										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGCCAATTGCGTCAGCTTAAT	0.453																																						uc001hjz.3																			0		p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(967-969)aCg>aTg		Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.							132	115	121					1																	213178541		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213178541G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.968C>T	1.37:g.213178541G>A	ENSP00000355929:p.Thr323Met					ANGEL2_uc010pto.2_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.2_Missense_Mutation_p.T197M|ANGEL2_uc001hka.3_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.2_Non-coding_Transcript	p.T323M	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	4	1123	-			323					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.968C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114747	0.94339	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.61	5.61	0.85477	Endonuclease/exonuclease/phosphatase (2);	0.052600	0.85682	D	0.000000	D	0.82879	0.5133	N	0.17474	0.49	0.54753	D	0.999988	D;D	0.89917	0.996;1.0	P;D	0.67725	0.781;0.953	D	0.85614	0.1260	10	0.72032	D	0.01	-13.1179	19.6436	0.95767	0.0:0.0:1.0:0.0	.	197;323	F5H476;Q5VTE6	.;ANGE2_HUMAN	M	323;154;154;197;154	ENSP00000355929:T323M;ENSP00000353696:T154M;ENSP00000443193:T154M;ENSP00000446124:T197M;ENSP00000438141:T154M	ENSP00000353696:T154M	T	-	2	0	ANGEL2	211245164	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.357000	0.97099	2.621000	0.88768	0.650000	0.86243	ACG		0.453	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		A	213178541	G	A	213178541	3	1	45	1	0	0	0	0	1	0	0	0	609	1145	40	1	686	1	ANGEL2	1	213178541	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	53332074	213178541	36072080	11	2846											
USH2A	7399	broad.mit.edu	37	chr1	216143995	216143995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcacaacctttggccGtgcatgcttggactctgaag	9	9	11	12	1	1	2	0	1	1	1	1	3	1	3	3	2	4	3	3	2	2	2	rs151057466	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:216143995G>A	ENST00000307340.3	-	36	7315	c.6929C>T	c.(6928-6930)aCg>aTg	p.T2310M	USH2A_ENST00000366943.2_Missense_Mutation_p.T2310M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2310	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T2310M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTTTGGCCGTGCATGCTTG	0.408										HNSCC(13;0.011)			G|||	3	0.000599042	8e-04	0.0014	5008	,	,		19229	0		0.001	False		,,,				2504	0					uc001hku.1																			1	Substitution - Missense(1)	p.T2310M(2)|p.T2310T(1)	haematopoietic_and_lymphoid_tissue(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6928-6930)aCg>aTg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	93	88	90		6929	5.8	1	1	dbSNP_134	90	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2310/5203	216143995	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216143995G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6929C>T	1.37:g.216143995G>A	ENSP00000305941:p.Thr2310Met	HNSCC(13;0.011)					p.T2310M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7316	-			2310			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6929C>T	CCDS31025.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	21.0	4.081963	0.76528	2.27E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58940	0.3;0.3	5.81	5.81	0.92471	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000370	D	0.84884	0.5571	H	0.96430	3.82	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.88933	0.3374	10	0.87932	D	0	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	2310	O75445	USH2A_HUMAN	M	2310	ENSP00000305941:T2310M;ENSP00000355910:T2310M	ENSP00000305941:T2310M	T	-	2	0	USH2A	214210618	1.000000	0.71417	0.962000	0.40283	0.737000	0.42083	4.936000	0.63506	2.746000	0.94184	0.591000	0.81541	ACG		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216143995	G	A	216143995	3	1	45	1	0	0	0	0	1	0	0	0	17033	1145	40	1	8827	1	USH2A	1	216143995	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	2965454	216143995	33106626	12	2847											
LYST	1130	broad.mit.edu	37	chr1	235940405	235940405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagttccaccaatttcGtgcagaatgccttgaatagt	11	12	8	10	1	0	2	0	1	0	1	2	2	1	2	4	0	3	2	4	0	4	4	rs146990900		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:235940405G>A	ENST00000389794.3	-	17	5592	c.5418C>T	c.(5416-5418)caC>caT	p.H1806H	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.H1806H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1806					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACCAATTTCGTGCAGAATGC	0.348																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5416-5418)caC>caT		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.		G		0,4406		0,0,2203	104	108	107		5418	-11	0.6	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYST	NM_000081.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1806/3802	235940405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235940405G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5418C>T	1.37:g.235940405G>A						LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	p.H1806H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5593	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1806					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.5418C>T	CCDS31062.1																																																																																				0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235940405	G	A	235940405	2	1	45	1	0	0	0	0	0	0	0	1	9128	1136	40	1		1	LYST	1	235940405	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	19796410	235940405	13310216	13	2848											
APOB	338	broad.mit.edu	37	chr2	21249770	21249770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctttgttgacactgtctgGgaaaaatccttgcttcccaa	10	13	8	10	0	1	1	0	1	1	0	3	2	3	2	2	1	2	3	2	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:21249770G>A	ENST00000233242.1	-	15	2261	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S	APOB_ENST00000399256.4_Missense_Mutation_p.P712S	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	712					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACTGTCTGGGAAAAATCCT	0.413																																						uc002red.3																			0		p.F711L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2134-2136)Cca>Tca		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						111	110	110					2																	21249770		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21249770G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2134C>T	2.37:g.21249770G>A	ENSP00000233242:p.Pro712Ser						p.P712S	NM_000384	NP_000375	P04114	APOB_HUMAN			14	2262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		712					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2134C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061182	0.93846	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.13307	2.6;2.6	5.7	5.7	0.88788	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.068340	0.64402	D	0.000015	T	0.44644	0.1303	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.34054	-0.9844	10	0.59425	D	0.04	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	712	P04114	APOB_HUMAN	S	712	ENSP00000233242:P712S;ENSP00000382200:P712S	ENSP00000233242:P712S	P	-	1	0	APOB	21103275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.406000	0.97321	2.861000	0.98227	0.655000	0.94253	CCA		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21249770	G	A	21249770	3	1	45	1	0	0	0	0	1	0	0	0	785	1232	43	3	11617	3	APOB	2	21249770	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		21249770	221949603	14	2849											
MSH6	2956	broad.mit.edu	37	chr2	48026476	48026476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactggggctggtattcAtgaaaggcaactgggcccat	10	9	14	8	0	1	2	1	2	0	0	1	2	1	2	1	5	2	3	1	5	4	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:48026476A>G	ENST00000234420.5	+	4	1506	c.1354A>G	c.(1354-1356)Atg>Gtg	p.M452V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.M150V|MSH6_ENST00000540021.1_Missense_Mutation_p.M322V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	452					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGTATTCATGAAAGGCAA	0.453			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1354-1356)Atg>Gtg	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.							82	77	78					2																	48026476		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026476A>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1354A>G	2.37:g.48026476A>G	ENSP00000234420:p.Met452Val					MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.3_Missense_Mutation_p.M150V|MSH6_uc010yoj.2_Missense_Mutation_p.M150V	p.M452V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	1506	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	452					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1354A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881702	0.51908	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88354	-2.37;-2.37;-2.37	5.15	3.97	0.46021	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94831	0.7996	10	0.66056	D	0.02	-18.021	11.2427	0.48979	0.8627:0.0:0.0:0.1373	.	322;452;452	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	452;450;322;150	ENSP00000234420:M452V;ENSP00000446475:M322V;ENSP00000438580:M150V	ENSP00000234420:M452V	M	+	1	0	MSH6	47879980	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.307000	0.96226	0.786000	0.33708	0.528000	0.53228	ATG		0.453	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		G	48026476	A	G	48026476	3	3	45	1	0	0	0	0	1	0	0	0	9874	217	8	4	1368	4	MSH6	2	48026476	Missense_Mutation	SNP	A	TCGA-06-0214-01A-02D-1491-08	26776706	48026476	195172897	15	2850											
SEMA4F	10505	broad.mit.edu	37	chr2	74900889	74900889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctacttcttctttacGgagacttcccgagcatttga	10	14	7	10	2	3	2	0	1	3	1	4	5	4	2	1	1	3	1	1	1	3	7			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:74900889G>A	ENST00000357877.2	+	7	905	c.756G>A	c.(754-756)acG>acA	p.T252T	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	252	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCTTCTTTACGGAGACTTCCC	0.567																																						uc002sna.1																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(754-756)acG>acA		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.							103	108	106					2																	74900889		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900889G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.756G>A	2.37:g.74900889G>A						SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.T252T|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.T252T	NM_004263	NP_004254	O95754	SEM4F_HUMAN			6	867	+			252			Sema.		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.756G>A	CCDS1955.1																																																																																				0.567	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74900889	G	A	74900889	2	1	45	1	0	0	0	0	0	0	0	1	14035	1103	39	2		2	SEMA4F	2	74900889	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	26874413	74900889	168298484	16	2851											
SDPR	8436	broad.mit.edu	37	chr2	192711627	192711627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagggtgctggaacttttCggcctgtgcagcgtcctctc	4	11	12	14	2	1	0	0	0	1	0	4	1	2	1	3	3	4	2	3	3	1	2	rs563544542		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:192711627C>T	ENST00000304141.4	-	1	354	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGGAACTTTTCGGCCTGTGCA	0.612													C|||	1	0.000199681	0	0	5008	,	,		20501	0		0	False		,,,				2504	0.001					uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(25-27)Gaa>Aaa		Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)						58	59	59					2																	192711627		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711627C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.25G>A	2.37:g.192711627C>T	ENSP00000305675:p.Glu9Lys						p.E9K	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		0	380	-			9						Missense_Mutation	SNP	ENST00000304141.4	37	c.25G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556625	0.65425	.	.	ENSG00000168497	ENST00000304141	T	0.65364	-0.15	4.61	3.66	0.41972	.	1.081660	0.07082	N	0.837154	T	0.70193	0.3196	L	0.60455	1.87	0.43647	D	0.996052	D	0.61697	0.99	P	0.51297	0.665	T	0.68584	-0.5370	10	0.59425	D	0.04	-10.8382	14.3227	0.66496	0.0:0.8496:0.1503:0.0	.	9	O95810	SDPR_HUMAN	K	9	ENSP00000305675:E9K	ENSP00000305675:E9K	E	-	1	0	SDPR	192419872	0.125000	0.22332	0.599000	0.28851	0.956000	0.61745	3.378000	0.52432	2.554000	0.86153	0.555000	0.69702	GAA		0.612	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		T	192711627	C	T	192711627	3	4	45	1	0	0	0	0	1	0	0	0	13970	893	31	2	1260	2	SDPR	2	192711627	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	117810738	192711627	50487746	17	2852											
ACAA1	30	broad.mit.edu	37	chr3	38175476	38175476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattcgggccatgattgccCcggccccaggctgcagcaca	7	6	12	16	3	0	1	0	1	0	0	1	2	0	1	5	3	3	3	5	3	0	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:38175476C>T	ENST00000333167.8	-	3	462	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ACAA1_ENST00000301810.7_Missense_Mutation_p.G97E|ACAA1_ENST00000444607.2_Missense_Mutation_p.G97E|ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Missense_Mutation_p.G97E|ACAA1_ENST00000544624.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	97					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATGATTGCCCCGGCCCCAGG	0.522																																						uc003cht.3																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(289-291)gGg>gAg		Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							66	68	67					3																	38175476		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38175476C>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.290G>A	3.37:g.38175476C>T	ENSP00000333664:p.Gly97Glu					ACAA1_uc003chu.3_Missense_Mutation_p.G97E	p.G97E	NM_001607	NP_001598	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	2	497	-			97					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.290G>A	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.813698|4.813698	0.90790|0.90790	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607|ENST00000421218	D;D;D;D|D	0.94138|0.95342	-3.36;-3.36;-3.36;-3.36|-3.68	5.58|5.58	4.71|4.71	0.59529|0.59529	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.107462|0.107462	0.64402|0.64402	D|D	0.000006|0.000006	D|D	0.96658|0.96658	0.8909|0.8909	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.994;0.995;1.0|.	D|D	0.96984|0.96984	0.9717|0.9717	10|8	0.87932|0.66056	D|D	0|0.02	-23.188|-23.188	14.5372|14.5372	0.67969|0.67969	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	29;97;97;97|.	F5GXL8;C9JDE9;G5E935;P09110|.	.;.;.;THIK_HUMAN|.	E|R	97;97;97;29;97|20	ENSP00000333664:G97E;ENSP00000301810:G97E;ENSP00000395183:G97E;ENSP00000391918:G97E|ENSP00000398172:G20R	ENSP00000301810:G97E|ENSP00000398172:G20R	G|G	-|-	2|1	0|0	ACAA1|ACAA1	38150480|38150480	1.000000|1.000000	0.71417|0.71417	0.707000|0.707000	0.30419|0.30419	0.999000|0.999000	0.98932|0.98932	7.313000|7.313000	0.78978|0.78978	1.490000|1.490000	0.48466|0.48466	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.522	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		T	38175476	C	T	38175476	3	4	45	1	0	0	0	0	1	0	0	0	104	623	22	3	1024	3	ACAA1	3	38175476	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		38175476	159846954	18	2853											
C3orf67	200844	broad.mit.edu	37	chr3	58870384	58870384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcattagttgacagcttCgtggtataatatctgtaggc	9	15	10	7	1	2	1	1	1	1	0	3	1	2	1	0	2	1	4	0	2	5	7			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:58870384C>T	ENST00000482387.1	-	3	323	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_5'UTR|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R76Q			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	76								p.R76Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGACAGCTTCGTGGTATAAT	0.393																																						uc003dkt.1																			1	Substitution - Missense(1)	p.R76Q(2)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(226-228)cGa>cAa		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							187	176	180					3																	58870384		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58870384C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.227G>A	3.37:g.58870384C>T	ENSP00000417122:p.Arg76Gln					AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	p.R76Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	6	636	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	76					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.227G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421818	0.83559	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.53857	0.6;0.6	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.69287	0.3094	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66775	-0.5838	9	.	.	.	-11.9797	16.7804	0.85562	0.0:1.0:0.0:0.0	.	76	Q6ZVT6-2	.	Q	76	ENSP00000295966:R76Q;ENSP00000417122:R76Q	.	R	-	2	0	C3orf67	58845424	1.000000	0.71417	0.982000	0.44146	0.531000	0.34715	4.862000	0.62976	2.694000	0.91930	0.655000	0.94253	CGA		0.393	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		T	58870384	C	T	58870384	3	4	45	1	0	0	0	0	1	0	0	0	2241	884	31	2	1504	2	C3orf67	3	58870384	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	20694908	58870384	139152046	19	2854											
C3orf17	25871	broad.mit.edu	37	chr3	112738408	112738408	+	Silent	SNP	C	C	T																															ccaagggccgcgccggggttCtgcactgtcactgcgctgcg																								rs369862780		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738408C>T	ENST00000314400.5	-	1	278	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Silent_p.Q29Q|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	29					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGCCGGGGTTCTGCACTGTCA	0.731																																						uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(85-87)caG>caA		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.							24	27	26					3																	112738408		2203	4296	6499	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112738408C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.87G>A	3.37:g.112738408C>T						C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.Q28Q|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	p.Q29Q	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			0	148	-			29					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.87G>A	CCDS33824.1																																																																																				0.731	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		T	112738408	C	T	112738408	2	4	45	1	0	0	0	0	0	0	0	1	2210	912	32	3		3	C3orf17	3	112738408	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	53868024	112738408	85284022	20	2855	2	2									
C3orf17	25871	broad.mit.edu	37	chr3	112738411	112738411	+	Silent	SNP	C	C	T																															agggccgcgccggggttctgCactgtcactgcgctgcggtt																								rs144842364	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738411C>T	ENST00000314400.5	-	1	275	c.84G>A	c.(82-84)gtG>gtA	p.V28V	C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Silent_p.V28V|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	28					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGGGGTTCTGCACTGTCACTG	0.726													C|||	3	0.000599042	0	0	5008	,	,		12623	0		0.003	False		,,,				2504	0					uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(82-84)gtG>gtA		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	25	28	27		84	-4.8	0	3	dbSNP_134	27	37,8555	22.2+/-67.0	0,37,4259	no	coding-synonymous	C3orf17	NM_015412.3		0,39,6460	TT,TC,CC		0.4306,0.0454,0.3		28/568	112738411	39,12959	2203	4296	6499	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112738411C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.84G>A	3.37:g.112738411C>T						C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.V27V|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	p.V28V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			0	145	-			28					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.84G>A	CCDS33824.1																																																																																				0.726	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		T	112738411	C	T	112738411	2	4	45	1	0	0	0	0	0	0	0	1	2210	697	25	3		3	C3orf17	3	112738411	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	3	112738411	85284019	21	2856	2	2									
C3orf17	25871	broad.mit.edu	37	chr3	112738459	112738459	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttagggattctcacacggttCcacggctccaggcccggcgg	6	8	13	14	4	1	0	1	0	1	0	4	1	3	1	3	6	0	2	3	6	1	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738459C>T	ENST00000314400.5	-	1	227	c.36G>A	c.(34-36)tgG>tgA	p.W12*	C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Nonsense_Mutation_p.W12*|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	12					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCACACGGTTCCACGGCTCCA	0.701																																						uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(34-36)tgG>tgA		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.							25	28	27					3																	112738459		2203	4298	6501	SO:0001587	stop_gained	25871					integral to membrane		g.chr3:112738459C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.36G>A	3.37:g.112738459C>T	ENSP00000320251:p.Trp12*					C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	p.W12*	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			0	97	-			12					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Nonsense_Mutation	SNP	ENST00000314400.5	37	c.36G>A	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311650	0.95655	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3171	15.1021	0.72288	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000320251:W12X	W	-	3	0	C3orf17	114221149	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	3.249000	0.51437	2.647000	0.89833	0.655000	0.94253	TGG		0.701	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		T	112738459	C	T	112738459	4	4	45	1	0	0	0	0	0	1	0	0	2210	856	30	3	1703	3	C3orf17	3	112738459	Nonsense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	48	112738459	85283971	22	2857											
IFT80	57560	broad.mit.edu	37	chr3	160075296	160075296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttatatttacagtcttcaCcagcagataaaataagatca	16	12	4	9	0	3	2	2	0	1	2	3	2	3	2	2	0	2	1	2	0	6	7			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:160075296C>T	ENST00000326448.7	-	7	1052	c.620G>A	c.(619-621)gGt>gAt	p.G207D	IFT80_ENST00000483465.1_Missense_Mutation_p.G70D|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.G378D|IFT80_ENST00000496589.1_Missense_Mutation_p.G70D	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	207					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGTCTTCACCAGCAGATAA	0.264																																						uc021xgr.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(619-621)gGt>gAt		Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.							59	65	63					3																	160075296		2199	4286	6485	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160075296C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.620G>A	3.37:g.160075296C>T	ENSP00000312778:p.Gly207Asp					IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.G70D|IFT80_uc021xgq.1_Missense_Mutation_p.G205D|IFT80_uc003fde.2_Missense_Mutation_p.G70D|IFT80_uc003fdd.2_5'UTR	p.G207D	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	666	-			207					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.620G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995791	0.93167	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537;ENST00000475677	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.56097	U	0.000039	T	0.79828	0.4513	M	0.89353	3.025	0.80722	D	1	D	0.56968	0.978	P	0.55749	0.783	D	0.83582	0.0118	10	0.59425	D	0.04	-14.6801	19.1062	0.93296	0.0:1.0:0.0:0.0	.	207	Q9P2H3	IFT80_HUMAN	D	207;70;70;70;70	ENSP00000312778:G207D;ENSP00000418196:G70D;ENSP00000420646:G70D;ENSP00000418602:G70D;ENSP00000419458:G70D	ENSP00000312778:G207D	G	-	2	0	IFT80	161557990	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.704000	0.68347	2.520000	0.84964	0.655000	0.94253	GGT		0.264	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		T	160075296	C	T	160075296	3	4	45	1	0	0	0	0	1	0	0	0	7564	507	18	3	1769	3	IFT80	3	160075296	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	47336837	160075296	37947134	23	2858											
GPR125	166647	broad.mit.edu	37	chr4	22414939	22414939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcccaccgggctgcaaCagcatctgctccatgtgcaa	11	7	9	14	1	1	0	0	0	1	0	3	1	3	0	3	1	5	5	3	1	3	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:22414939C>T	ENST00000334304.5	-	14	2367	c.2098G>A	c.(2098-2100)Gtt>Att	p.V700I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	700	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGGGCTGCAACAGCATCTGCT	0.443																																						uc003gqm.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2098-2100)Gtt>Att		Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.							128	125	126					4																	22414939		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414939C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2098G>A	4.37:g.22414939C>T	ENSP00000334952:p.Val700Ile					GPR125_uc010ieo.1_Missense_Mutation_p.V556I	p.V700I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			13	2363	-		Breast(46;0.198)	700			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2098G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868723	0.51588	.	.	ENSG00000152990	ENST00000334304	T	0.55413	0.52	5.87	3.22	0.36961	GPS domain (2);	0.242686	0.40908	N	0.000994	T	0.34571	0.0902	N	0.12920	0.275	0.80722	D	1	B;B	0.14012	0.009;0.006	B;B	0.20184	0.028;0.028	T	0.05566	-1.0877	10	0.32370	T	0.25	-19.2071	11.7311	0.51737	0.0:0.8082:0.0:0.1918	.	557;700	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	700	ENSP00000334952:V700I	ENSP00000334952:V700I	V	-	1	0	GPR125	22024037	0.991000	0.36638	0.029000	0.17559	0.999000	0.98932	3.024000	0.49674	0.383000	0.24910	0.650000	0.86243	GTT		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			T	22414939	C	T	22414939	3	4	45	1	0	0	0	0	1	0	0	0	6639	478	17	3	1891	3	GPR125	4	22414939	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		22414939	168739337	24	2859											
PHOX2B	8929	broad.mit.edu	37	chr4	41748308	41748308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgcgctcctgcttgCgaaacttggcgcggcggttc	3	9	14	15	7	0	0	0	0	0	0	2	1	1	0	2	3	4	4	2	3	1	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:41748308C>T	ENST00000226382.2	-	3	820	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	154					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTCCTGCTTGCGAAACTTGGC	0.617			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.4			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"Mis, F"	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(460-462)cGc>cAc		Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.							24	26	25					4																	41748308		2200	4299	6499	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41748308C>T	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.461G>A	4.37:g.41748308C>T	ENSP00000226382:p.Arg154His						p.R154H	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			2	821	-			154					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.461G>A	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.197882|4.197882	0.79015|0.79015	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000510424|ENST00000226382	.|D	.|0.97642	.|-4.47	4.67|4.67	3.83|3.83	0.44106|0.44106	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99174|0.99174	0.9714|0.9714	H|H	0.99573|0.99573	4.635|4.635	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.98516|0.98516	1.0621|1.0621	5|10	.|0.87932	.|D	.|0	.|.	14.0012|14.0012	0.64436|0.64436	0.0:0.8474:0.1526:0.0|0.0:0.8474:0.1526:0.0	.|.	.|154	.|Q99453	.|PHX2B_HUMAN	T|H	94|154	.|ENSP00000226382:R154H	.|ENSP00000226382:R154H	A|R	-|-	1|2	0|0	PHOX2B|PHOX2B	41443065|41443065	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.987000|0.987000	0.75469|0.75469	7.239000|7.239000	0.78182|0.78182	1.166000|1.166000	0.42689|0.42689	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.617	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			T	41748308	C	T	41748308	3	4	45	1	0	0	0	0	1	0	0	0	11859	768	27	1	487	1	PHOX2B	4	41748308	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	19333369	41748308	149405968	25	2860											
PDGFRA	5156	broad.mit.edu	37	chr4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccgtgtataagtcagggGaaacgattgtggtcacctgt	12	10	12	7	2	2	0	2	0	0	0	2	2	2	1	2	3	2	1	2	3	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:55131142G>A	ENST00000257290.5	+	5	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(685-687)Gaa>Aaa		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173	167	169					4																	55131142		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131142G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.685G>A	4.37:g.55131142G>A	ENSP00000257290:p.Glu229Lys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	p.E229K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		4	1016	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		229			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.685G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103790	0.94245	.	.	ENSG00000134853	ENST00000257290	T	0.68479	-0.33	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32884	U	0.005529	D	0.83202	0.5203	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.913	D	0.85423	0.1144	10	0.72032	D	0.01	.	18.8692	0.92306	0.0:0.0:1.0:0.0	.	229;229	P16234-3;P16234	.;PGFRA_HUMAN	K	229	ENSP00000257290:E229K	ENSP00000257290:E229K	E	+	1	0	PDGFRA	54825899	1.000000	0.71417	0.799000	0.32177	0.762000	0.43233	7.968000	0.87980	2.470000	0.83445	0.491000	0.48974	GAA		0.423	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55131142	G	A	55131142	3	1	45	1	0	0	0	0	1	0	0	0	11661	1175	41	3	699	3	PDGFRA	4	55131142	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	13382834	55131142	136023134	26	2861											
SGMS2	166929	broad.mit.edu	37	chr4	108820833	108820833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtgcctggaatgcatttCcagtgtgctccaaaggtcag	8	11	11	11	0	1	0	1	0	0	0	3	1	3	1	4	2	3	2	4	2	2	1	rs150340532		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:108820833C>T	ENST00000394684.4	+	4	1115	c.558C>T	c.(556-558)ttC>ttT	p.F186F	SGMS2_ENST00000394686.3_Silent_p.F186F|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Silent_p.F186F	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	186					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		GAATGCATTTCCAGTGTGCTC	0.398																																						uc003hyo.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(556-558)ttC>ttT		Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	Choline(DB00122)	C	,,	2,4404	4.2+/-10.8	0,2,2201	158	144	149		558,558,558	3.2	1	4	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SGMS2	NM_001136257.1,NM_001136258.1,NM_152621.5	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	186/366,186/366,186/366	108820833	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108820833C>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.558C>T	4.37:g.108820833C>T						SGMS2_uc003hyl.4_Silent_p.F186F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Silent_p.F186F	p.F186F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	2	1197	+			186					A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	c.558C>T	CCDS3677.1																																																																																				0.398	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		T	108820833	C	T	108820833	2	4	45	1	0	0	0	0	0	0	0	1	14215	854	30	3		3	SGMS2	4	108820833	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	53689691	108820833	82333443	27	2862											
AP1AR	55435	broad.mit.edu	37	chr4	113189433	113189433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattccaatgggctggaGtgggaaaatgattttgttag	11	13	14	3	0	0	2	0	2	0	0	1	5	1	4	1	3	0	2	1	3	4	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:113189433G>A	ENST00000274000.5	+	10	1132	c.777G>A	c.(775-777)gaG>gaA	p.E259E	AP1AR_ENST00000309703.6_Silent_p.E226E	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	259					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						ATGGGCTGGAGTGGGAAAATG	0.403																																						uc003iaj.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(775-777)gaG>gaA		Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.							118	109	112					4																	113189433		2203	4299	6502	SO:0001819	synonymous_variant	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189433G>A	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.777G>A	4.37:g.113189433G>A						AP1AR_uc003iak.4_Silent_p.E226E	p.E259E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN			9	1130	+			259					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Silent	SNP	ENST00000274000.5	37	c.777G>A	CCDS3696.1																																																																																				0.403	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		A	113189433	G	A	113189433	2	1	45	1	0	0	0	0	0	0	0	1	730	1020	36	3		3	AP1AR	4	113189433	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	4368600	113189433	77964843	28	2863											
MAP3K1	4214	broad.mit.edu	37	chr5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgcagcagatagggcCtaactctttcctgattggag	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:56160697C>T	ENST00000399503.3	+	4	971	c.971C>T	c.(970-972)cCt>cTt	p.P324L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	324					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(970-972)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							110	109	109					5																	56160697		1888	4111	5999	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160697C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.971C>T	5.37:g.56160697C>T	ENSP00000382423:p.Pro324Leu						p.P324L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	1472	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	324						Missense_Mutation	SNP	ENST00000399503.3	37	c.971C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922032	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.72167	-0.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86368	0.1721	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	324	Q13233	M3K1_HUMAN	L	324	ENSP00000382423:P324L	ENSP00000382423:P324L	P	+	2	0	MAP3K1	56196454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.764000	0.74960	2.737000	0.93849	0.563000	0.77884	CCT		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56160697	C	T	56160697	3	4	45	1	0	0	0	0	1	0	0	0	9243	681	24	3	985	3	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		56160697	124754563	29	2864											
PAM	5066	broad.mit.edu	37	chr5	102284128	102284128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgatgtctgttgacactGttatcccagcaggagaaaaa	13	12	9	7	0	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:102284128G>C	ENST00000438793.3	+	8	1092	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.V208L|PAM_ENST00000304400.7_Missense_Mutation_p.V208L|PAM_ENST00000348126.2_Missense_Mutation_p.V208L|PAM_ENST00000274392.9_Missense_Mutation_p.V111L|PAM_ENST00000455264.2_Missense_Mutation_p.V208L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	208	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTGACACTGTTATCCCAGC	0.303																																						uc003knt.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(622-624)Gtt>Ctt		Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	Vitamin C(DB00126)						122	123	123					5																	102284128		2203	4298	6501	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102284128G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.622G>C	5.37:g.102284128G>C	ENSP00000396493:p.Val208Leu					PAM_uc003knw.3_Missense_Mutation_p.V208L|PAM_uc003kns.3_Missense_Mutation_p.V208L|PAM_uc003knu.3_Missense_Mutation_p.V208L|PAM_uc011cuz.2_Missense_Mutation_p.V111L|PAM_uc003knv.3_Missense_Mutation_p.V208L	p.V208L	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	7	995	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	208			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.622G>C	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506332	0.26949	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.75	5.75	0.90469	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.056134	0.64402	D	0.000001	T	0.77164	0.4090	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.25312	0.057;0.071;0.057;0.086;0.123;0.012	B;B;B;B;B;B	0.37346	0.099;0.247;0.16;0.106;0.207;0.016	T	0.70970	-0.4727	10	0.32370	T	0.25	.	19.5333	0.95239	0.0:0.0:1.0:0.0	.	111;208;208;208;208;208	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	L	208;208;208;208;111;208	ENSP00000396493:V208L;ENSP00000282992:V208L;ENSP00000314638:V208L;ENSP00000306100:V208L;ENSP00000274392:V111L;ENSP00000403461:V208L	ENSP00000274392:V111L	V	+	1	0	PAM	102312027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.712000	0.68407	2.720000	0.93068	0.563000	0.77884	GTT		0.303	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		C	102284128	G	C	102284128	3	2	45	1	0	0	0	0	1	0	0	0	11412	1377	48	5	652	5	PAM	5	102284128	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	46123431	102284128	78631132	30	2865											
KIF4B	285643	broad.mit.edu	37	chr5	154396823	154396823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgggcactgttgaacagaCccaggattccgaaggctcct	9	9	11	12	1	0	2	0	1	0	1	2	4	2	3	3	3	1	3	3	3	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:154396823C>A	ENST00000435029.4	+	1	3564	c.3404C>A	c.(3403-3405)aCc>aAc	p.T1135N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1135	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTGAACAGACCCAGGATTCC	0.537																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3403-3405)aCc>aAc		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							145	135	138					5																	154396823		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396823C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3404C>A	5.37:g.154396823C>A	ENSP00000387875:p.Thr1135Asn						p.T1135N	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3564	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1135			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3404C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.216901	0.06101	.	.	ENSG00000226650	ENST00000435029	T	0.68479	-0.33	2.14	1.17	0.20885	.	.	.	.	.	T	0.43853	0.1266	N	0.14661	0.345	0.33158	D	0.54665	B	0.06786	0.001	B	0.08055	0.003	T	0.39354	-0.9618	9	0.33141	T	0.24	.	6.101	0.20047	0.304:0.696:0.0:0.0	.	1135	Q2VIQ3	KIF4B_HUMAN	N	1135	ENSP00000387875:T1135N	ENSP00000387875:T1135N	T	+	2	0	KIF4B	154377016	0.002000	0.14202	0.631000	0.29282	0.500000	0.33767	-0.009000	0.12765	0.155000	0.19261	0.563000	0.77884	ACC		0.537	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154396823	C	A	154396823	3	1	45	1	0	0	0	0	1	0	0	0	8304	507	18	5	3406	5	KIF4B	5	154396823	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	52112695	154396823	26518437	31	2866											
GRM6	2916	broad.mit.edu	37	chr5	178416095	178416095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcacaaactgcaccttgcCctcctgctcgtaggtggagt	9	10	9	13	1	1	0	1	0	0	0	3	1	2	1	3	2	4	3	3	2	3	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:178416095C>T	ENST00000517717.1	-	7	1233	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	GRM6_ENST00000231188.5_Missense_Mutation_p.G399S|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	399					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCACCTTGCCCTCCTGCTCG	0.667																																						uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1195-1197)Ggc>Agc		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.							151	130	137					5																	178416095		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416095C>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1195G>A	5.37:g.178416095C>T	ENSP00000430767:p.Gly399Ser					GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	p.G399S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1374	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	399						Missense_Mutation	SNP	ENST00000517717.1	37	c.1195G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502239	0.44455	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.82167	-1.58;-1.58	5.22	5.22	0.72569	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.78181	0.4243	L	0.38953	1.18	0.46798	D	0.9992	P;P	0.43542	0.81;0.776	P;P	0.46629	0.471;0.522	T	0.74469	-0.3655	9	0.02654	T	1	.	16.6519	0.85218	0.0:1.0:0.0:0.0	.	439;399	E7EX65;O15303	.;GRM6_HUMAN	S	439;399;399	ENSP00000231188:G399S;ENSP00000430767:G399S	ENSP00000231188:G399S	G	-	1	0	GRM6	178348701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.791000	0.62460	2.608000	0.88229	0.555000	0.69702	GGC		0.667	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			T	178416095	C	T	178416095	3	4	45	1	0	0	0	0	1	0	0	0	6801	623	22	3	1458	3	GRM6	5	178416095	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	24019272	178416095	2499165	32	2867											
DSP	1832	broad.mit.edu	37	chr6	7581804	7581804	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaagcaggctttagaggTattcacaaatacttgatcac	15	10	7	9	0	2	2	2	1	0	1	2	2	2	2	1	2	2	3	1	2	6	6			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:7581804T>A	ENST00000379802.3	+	23	5720		c.e23+2		DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTTTAGAGGTATTCACAAAT	0.373																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.e23+2		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							42	48	46					6																	7581804		2198	4298	6496	SO:0001630	splice_region_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581804T>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5379+2T>A	6.37:g.7581804T>A						DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	p.E1793_splice	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5658	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1793			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	37	c.5379_splice	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788503	0.70337	.	.	ENSG00000096696	ENST00000379802	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7526803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	.		0.373	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	Intron	A	7581804	T	A	7581804	5	1	45	1	0	0	0	0	0	0	1	0	4781	1652	57	5	5471	5	DSP	6	7581804	Splice_Site	SNP	T	TCGA-06-0214-01A-02D-1491-08		7581804	163533263	33	2868											
BTBD9	114781	broad.mit.edu	37	chr6	38224188	38224188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagacacaacttacttgCaggagactttagttctgtca	14	11	8	8	0	2	2	1	0	1	2	2	4	2	2	0	1	3	2	0	1	5	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:38224188C>A	ENST00000481247.1	-	9	1710	c.1559G>T	c.(1558-1560)tGc>tTc	p.C520F	BTBD9_ENST00000408958.1_Missense_Mutation_p.C452F|BTBD9_ENST00000419706.2_Missense_Mutation_p.C490F|BTBD9_ENST00000403056.1_Missense_Mutation_p.C520F|BTBD9_ENST00000314100.6_Missense_Mutation_p.C452F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	520					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AACTTACTTGCAGGAGACTTT	0.408																																						uc003ooa.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1558-1560)tGc>tTc		Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.							88	83	84					6																	38224188		1847	4095	5942	SO:0001583	missense	114781				cell adhesion			g.chr6:38224188C>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1559G>T	6.37:g.38224188C>A	ENSP00000418751:p.Cys520Phe					BTBD9_uc010jwv.3_Missense_Mutation_p.C490F|BTBD9_uc003ony.4_Missense_Mutation_p.C452F|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.C520F	p.C520F	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN			9	2135	-			520					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1559G>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913596	0.72983	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81	4.97	4.97	0.65823	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.979	D	0.99741	1.1015	10	0.87932	D	0	.	17.2001	0.86903	0.0:1.0:0.0:0.0	.	490;520	Q494V9;Q96Q07	.;BTBD9_HUMAN	F	452;520;490;520;452	ENSP00000323408:C452F;ENSP00000418751:C520F;ENSP00000415365:C490F;ENSP00000386121:C520F;ENSP00000386211:C452F	ENSP00000323408:C452F	C	-	2	0	BTBD9	38332166	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.641000	0.74324	2.584000	0.87258	0.563000	0.77884	TGC		0.408	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		A	38224188	C	A	38224188	3	1	45	1	0	0	0	0	1	0	0	0	1548	710	25	5	291	5	BTBD9	6	38224188	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	30642384	38224188	132890879	34	2869											
ABCA13	154664	broad.mit.edu	37	chr7	48312026	48312026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagctctgaacacagtctaCgctatcaggaatgcatctga	13	9	9	10	1	4	2	1	2	3	0	4	4	4	3	0	1	4	3	0	1	5	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:48312026C>T	ENST00000435803.1	+	17	2787	c.2763C>T	c.(2761-2763)taC>taT	p.Y921Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	921					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGTCTACGCTATCAGGA	0.378																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2761-2763)taC>taT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							68	65	66					7																	48312026		1872	4103	5975	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312026C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2763C>T	7.37:g.48312026C>T						ABCA13_uc010kyr.2_Silent_p.Y424Y|ABCA13_uc022acp.1_5'Flank	p.Y921Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			16	2787	+			921					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.2763C>T	CCDS47584.1																																																																																				0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48312026	C	T	48312026	2	4	45	1	0	0	0	0	0	0	0	1	31	547	19	1		1	ABCA13	7	48312026	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		48312026	110826637	35	2870											
WBSCR17	64409	broad.mit.edu	37	chr7	70880884	70880884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatttgcagaggagctgaAggtccccctagaggagtatg	10	9	14	8	0	1	3	1	1	0	2	2	5	2	5	2	3	2	3	2	3	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:70880884A>G	ENST00000333538.5	+	4	1233	c.599A>G	c.(598-600)aAg>aGg	p.K200R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	200	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGAGCTGAAGGTCCCCCTA	0.498																																						uc003tvy.3																			0		p.L199L(1)|p.K200N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(598-600)aAg>aGg		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							66	63	64					7																	70880884		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880884A>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.599A>G	7.37:g.70880884A>G	ENSP00000329654:p.Lys200Arg					WBSCR17_uc003tvz.3_5'UTR	p.K200R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	599	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	200			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.599A>G	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495290	0.64186	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.61859	0.07;0.07	5.17	4.0	0.46444	Glycosyl transferase, family 2 (1);	0.092388	0.64402	D	0.000001	T	0.56124	0.1964	L	0.56340	1.77	0.58432	D	0.999998	P	0.40282	0.711	B	0.43867	0.434	T	0.56129	-0.8030	10	0.54805	T	0.06	.	10.6005	0.45365	0.8558:0.0:0.0:0.1441	.	200	Q6IS24	GLTL3_HUMAN	R	200;178	ENSP00000329654:K200R;ENSP00000392019:K178R	ENSP00000329654:K200R	K	+	2	0	WBSCR17	70518820	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	8.870000	0.92336	0.797000	0.33971	-0.490000	0.04691	AAG		0.498	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		G	70880884	A	G	70880884	3	3	45	1	0	0	0	0	1	0	0	0	17261	72	3	4	613	4	WBSCR17	7	70880884	Missense_Mutation	SNP	A	TCGA-06-0214-01A-02D-1491-08	22568858	70880884	88257779	36	2871											
PCLO	27445	broad.mit.edu	37	chr7	82581587	82581587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatccactacttccccAtcagtgattccctgggatac	9	11	7	14	0	1	2	1	2	0	1	4	4	4	3	4	1	2	0	4	1	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:82581587A>G	ENST00000333891.9	-	5	9019	c.8682T>C	c.(8680-8682)gaT>gaC	p.D2894D	PCLO_ENST00000423517.2_Silent_p.D2894D|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTACTTCCCCATCAGTGATTC	0.438																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8680-8682)gaT>gaC		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							183	173	176					7																	82581587		1997	4172	6169	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581587A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8682T>C	7.37:g.82581587A>G						PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.3_5'Flank	p.D2894D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	8971	-			2825						Silent	SNP	ENST00000333891.9	37	c.8682T>C	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82581587	A	G	82581587	2	3	45	1	0	0	0	0	0	0	0	1	11583	214	8	4		4	PCLO	7	82581587	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	11700703	82581587	76557076	37	2872											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017491	100017491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcaaagattctctttGgtccctttccacattctgaa	8	14	9	10	0	2	2	0	1	2	1	5	2	4	2	2	3	0	1	2	3	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:100017491G>C	ENST00000398027.2	-	4	291	c.44C>G	c.(43-45)cCa>cGa	p.P15R	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.P15R|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	15							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATTCTCTTTGGTCCCTTTCC	0.448																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(43-45)cCa>cGa		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							74	68	70					7																	100017491		1855	4090	5945	SO:0001583	missense	55063						zinc ion binding	g.chr7:100017491G>C	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.44C>G	7.37:g.100017491G>C	ENSP00000381109:p.Pro15Arg					ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	p.P15R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			3	292	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		15					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.44C>G	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905223	0.52333	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.46063	0.91;0.88	4.94	2.99	0.34606	.	0.642001	0.14575	N	0.311237	T	0.39384	0.1076	L	0.46157	1.445	0.80722	D	1	B;P;P;D	0.54397	0.073;0.93;0.868;0.966	B;B;B;P	0.48030	0.064;0.289;0.289;0.564	T	0.16719	-1.0393	9	.	.	.	0.1833	7.6943	0.28585	0.0:0.1812:0.631:0.1878	.	15;15;15;15	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	R	15	ENSP00000381109:P15R;ENSP00000354210:P15R	.	P	-	2	0	ZCWPW1	99855427	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	1.770000	0.38532	1.428000	0.47296	0.655000	0.94253	CCA		0.448	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		C	100017491	G	C	100017491	3	2	45	1	0	0	0	0	1	0	0	0	17594	1348	47	5	1962	5	ZCWPW1	7	100017491	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	17435904	100017491	59121172	38	2873											
FOXP2	93986	broad.mit.edu	37	chr7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcctactgcaggccGtccacgaagacctcaatggt	9	7	11	14	2	1	1	1	0	0	1	2	2	2	1	5	3	2	1	5	3	3	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:114304409G>A	ENST00000393494.2	+	16	2200	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.V666I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I			O15409	FOXP2_HUMAN	forkhead box P2	641					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483																																						uc003vhb.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1921-1923)Gtc>Atc		Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.							91	82	85					7																	114304409		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304409G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1921G>A	7.37:g.114304409G>A	ENSP00000377132:p.Val641Ile					FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V666I|FOXP2_uc003vha.3_Missense_Mutation_p.V549I|FOXP2_uc011kmv.2_Missense_Mutation_p.V640I|FOXP2_uc011kmu.2_Missense_Mutation_p.V658I|FOXP2_uc010ljz.2_Missense_Mutation_p.V456I	p.V641I	NM_014491	NP_055306	O15409	FOXP2_HUMAN			15	2295	+			641					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1921G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558337	0.13436	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91180	-2.52;-2.53;-2.53;-2.52;-2.59;-2.8	5.57	5.57	0.84162	.	0.180845	0.48286	D	0.000188	T	0.77844	0.4191	N	0.01874	-0.695	0.80722	D	1	B;B;B;B;B	0.25235	0.001;0.002;0.121;0.001;0.004	B;B;B;B;B	0.22152	0.001;0.001;0.038;0.001;0.002	T	0.74990	-0.3475	10	0.11794	T	0.64	.	19.5416	0.95277	0.0:0.0:1.0:0.0	.	640;658;456;641;666	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	641;666;658;641;618;549;456	ENSP00000377132:V641I;ENSP00000386200:V666I;ENSP00000385069:V658I;ENSP00000265436:V641I;ENSP00000377129:V549I;ENSP00000377130:V456I	ENSP00000265436:V641I	V	+	1	0	FOXP2	114091645	1.000000	0.71417	0.960000	0.40013	0.950000	0.60333	3.026000	0.49689	2.614000	0.88457	0.655000	0.94253	GTC		0.483	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114304409	G	A	114304409	3	1	45	1	0	0	0	0	1	0	0	0	6027	1145	40	1	2146	1	FOXP2	7	114304409	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	14286918	114304409	44834254	39	2874											
TES	26136	broad.mit.edu	37	chr7	115889085	115889085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattatagaaaaatatgtcGtaactgcaagtgtggccaag	17	10	9	5	1	0	1	0	0	0	1	1	1	0	1	1	1	2	2	1	1	9	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:115889085G>A	ENST00000358204.4	+	3	340	c.125G>A	c.(124-126)cGt>cAt	p.R42H	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000485009.1_3'UTR|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|TES_ENST00000393481.2_Missense_Mutation_p.R33H	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	42	Cys-rich.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAAATATGTCGTAACTGCAAG	0.313																																						uc003vho.3																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(124-126)cGt>cAt		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							36	37	37					7																	115889085		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889085G>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.125G>A	7.37:g.115889085G>A	ENSP00000350937:p.Arg42His					TES_uc011kmx.2_Missense_Mutation_p.R42H|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.R33H|TES_uc003vhp.3_Missense_Mutation_p.R33H|TES_uc022aki.1_Non-coding_Transcript	p.R42H	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	340	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	42			Cys-rich.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.125G>A	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234131	0.95207	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.29917	1.55;1.55	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.73380	0.98;0.886	T	0.66795	-0.5833	10	0.87932	D	0	-14.4317	19.1326	0.93413	0.0:0.0:1.0:0.0	.	42;42	B7Z5L5;Q9UGI8	.;TES_HUMAN	H	42;42;33	ENSP00000350937:R42H;ENSP00000377121:R33H	ENSP00000257721:R42H	R	+	2	0	TES	115676321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.581000	0.87130	0.650000	0.86243	CGT		0.313	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		A	115889085	G	A	115889085	3	1	45	1	0	0	0	0	1	0	0	0	15762	1145	40	1	135	1	TES	7	115889085	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	1584676	115889085	43249578	40	2875											
WDR91	29062	broad.mit.edu	37	chr7	134878049	134878049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggttcatgcccttgctGccgatgtctggtgctgagaa	6	12	12	11	1	2	1	1	1	1	1	2	3	2	1	3	2	4	3	3	2	1	2	rs201469951		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:134878049G>T	ENST00000354475.4	-	11	1624	c.1593C>A	c.(1591-1593)ggC>ggA	p.G531G	WDR91_ENST00000344400.5_Silent_p.G531G|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Silent_p.G496G	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	531										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCCCTTGCTGCCGATGTCTG	0.622																																						uc003vsp.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1591-1593)ggC>ggA		Homo sapiens WD repeat domain 91 (WDR91), mRNA.							64	59	61					7																	134878049		2203	4300	6503	SO:0001819	synonymous_variant	29062							g.chr7:134878049G>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1593C>A	7.37:g.134878049G>T						WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.G120G	p.G531G	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			10	1655	-			531					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	c.1593C>A	CCDS34758.1																																																																																				0.622	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		T	134878049	G	T	134878049	2	4	45	1	0	0	0	0	0	0	0	1	17335	1306	46	5		5	WDR91	7	134878049	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	18988964	134878049	24260614	41	2876											
HTR5A	3361	broad.mit.edu	37	chr7	154863097	154863097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccaacgtcatgatcgCgctcacctgggcactctccg	6	9	9	17	5	4	1	2	1	2	0	7	1	4	1	3	1	1	2	3	1	1	0	rs150537072	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:154863097C>T	ENST00000287907.2	+	1	1064	c.488C>T	c.(487-489)gCg>gTg	p.A163V	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTCATGATCGCGCTCACCTGG	0.627													C|||	6	0.00119808	0.0045	0	5008	,	,		18925	0		0	False		,,,				2504	0					uc003wlu.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(487-489)gCg>gTg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.		C	VAL/ALA	25,4381	32.6+/-62.9	0,25,2178	101	74	83		488	-1.6	0	7	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HTR5A	NM_024012.2	64	0,26,6477	TT,TC,CC		0.0116,0.5674,0.1999	benign	163/358	154863097	26,12980	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863097C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.488C>T	7.37:g.154863097C>T	ENSP00000287907:p.Ala163Val					LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	p.A163V	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	0	552	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	163					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.488C>T	CCDS5936.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	4.817	0.151897	0.09185	0.005674	1.16E-4	ENSG00000157219	ENST00000287907	T	0.38077	1.16	4.75	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.17066	0.0410	L	0.35542	1.07	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.30238	-0.9985	10	0.15499	T	0.54	.	7.24	0.26092	0.0:0.3541:0.1188:0.5271	.	163	P47898	5HT5A_HUMAN	V	163	ENSP00000287907:A163V	ENSP00000287907:A163V	A	+	2	0	HTR5A	154494030	0.000000	0.05858	0.002000	0.10522	0.337000	0.28794	-0.280000	0.08468	-0.584000	0.05913	-0.140000	0.14226	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		T	154863097	C	T	154863097	3	4	45	1	0	0	0	0	1	0	0	0	7450	768	27	1	490	1	HTR5A	7	154863097	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	19985048	154863097	4275566	42	2877											
PTK2B	2185	broad.mit.edu	37	chr8	27310672	27310672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcccccgaggctgggcGcacaggtatgtgttggctct	7	8	15	11	2	1	1	0	0	1	1	1	2	1	1	2	4	1	5	2	4	2	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:27310672G>A	ENST00000397501.1	+	33	3398	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T	PTK2B_ENST00000517339.1_Missense_Mutation_p.A822T|PTK2B_ENST00000338238.4_Missense_Mutation_p.A822T|PTK2B_ENST00000544172.1_Missense_Mutation_p.A864T|PTK2B_ENST00000346049.5_Missense_Mutation_p.A864T|PTK2B_ENST00000420218.2_Missense_Mutation_p.A822T	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	864	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GAGGCTGGGCGCACAGGTATG	0.517																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2590-2592)Gca>Aca		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							62	67	65					8																	27310672		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27310672G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2590G>A	8.37:g.27310672G>A	ENSP00000380638:p.Ala864Thr					PTK2B_uc022ate.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.2_Missense_Mutation_p.A864T|PTK2B_uc003xfq.2_Missense_Mutation_p.A822T	p.A864T	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	32	3398	+		Ovarian(32;2.72e-05)	864			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2590G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218732	0.22373	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.79	4.92	0.64577	Focal adhesion kinase, targeting (FAT) domain (1);	0.213930	0.47455	N	0.000239	T	0.27205	0.0667	M	0.68952	2.095	0.49687	D	0.999819	P;B	0.48016	0.904;0.03	B;B	0.35727	0.209;0.013	T	0.10706	-1.0618	10	0.17832	T	0.49	.	12.44	0.55619	0.0805:0.0:0.9195:0.0	.	822;864	Q14289-2;Q14289	.;FAK2_HUMAN	T	864;822;864;864;822;822	ENSP00000380638:A864T;ENSP00000342242:A822T;ENSP00000440926:A864T;ENSP00000332816:A864T;ENSP00000391995:A822T;ENSP00000427931:A822T	ENSP00000342242:A822T	A	+	1	0	PTK2B	27366589	0.825000	0.29262	0.068000	0.19968	0.091000	0.18340	2.088000	0.41663	1.444000	0.47605	0.655000	0.94253	GCA		0.517	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		A	27310672	G	A	27310672	3	1	45	1	0	0	0	0	1	0	0	0	12763	1087	38	1	2696	1	PTK2B	8	27310672	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		27310672	119053350	43	2878											
TEX15	56154	broad.mit.edu	37	chr8	30705979	30705979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtataagcattaccGgactcctgttgggctctctg	6	16	9	10	1	2	0	0	0	2	0	4	1	3	1	2	2	2	4	2	2	3	6			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:30705979G>A	ENST00000256246.2	-	1	629	c.555C>T	c.(553-555)tcC>tcT	p.S185S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	185					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S185S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCATTACCGGACTCCTGTT	0.413																																						uc003xil.3																			1	Substitution - coding silent(1)	p.S185S(2)	lung(1)	NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(553-555)tcC>tcT		Homo sapiens testis expressed 15 (TEX15), mRNA.							53	56	55					8																	30705979		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30705979G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.555C>T	8.37:g.30705979G>A							p.S185S	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	555	-			185						Silent	SNP	ENST00000256246.2	37	c.555C>T	CCDS6080.1																																																																																				0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30705979	G	A	30705979	2	1	45	1	0	0	0	0	0	0	0	1	15776	1103	39	2		2	TEX15	8	30705979	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	3395307	30705979	115658043	44	2879											
RRAGA	54801	broad.mit.edu	37	chr9	19050150	19050150	+	IGR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttcgaacgtccatcTgggatgagacgctctacaaa	10	12	9	10	3	2	1	0	1	2	1	4	4	3	2	1	1	2	2	1	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:19050150T>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.W165R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACGTCCATCTGGGATGAGAC	0.522																																						uc003znj.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(493-495)Tgg>Agg		Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.							64	62	63					9																	19050150		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050150T>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050150T>A							p.W165R	NM_006570	NP_006561	Q7L523	RRAGA_HUMAN			0	779	+			165					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.493T>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788842	0.70337	.	.	ENSG00000155876	ENST00000380527	T	0.70399	-0.48	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90237	0.4283	10	0.87932	D	0	-4.7109	12.3379	0.55077	0.0:0.0:0.0:1.0	.	165	Q7L523	RRAGA_HUMAN	R	165	ENSP00000369899:W165R	ENSP00000369899:W165R	W	+	1	0	RRAGA	19040150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.236000	0.73375	0.533000	0.62120	TGG		0.522	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		A	19050150	T	A	19050150	1	1	45	0	1	0	0	0	0	0	0	0	13672	1580	55	5		5	RRAGA	9	19050150	IGR	SNP	T	TCGA-06-0214-01A-02D-1491-08		19050150	122163281	45	2880											
CCL19	6363	broad.mit.edu	37	chr9	34690006	34690006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacagagctggcggcccCtcagtgtggtgaacctgggg	6	7	17	11	1	1	2	1	1	0	1	1	2	1	2	3	5	3	2	3	5	1	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:34690006C>T	ENST00000311925.2	-	3	334	c.197G>A	c.(196-198)aGg>aAg	p.R66K	CCL19_ENST00000378800.3_Missense_Mutation_p.R66K|CCL19_ENST00000485502.1_5'UTR	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	chemokine (C-C motif) ligand 19	66					activation of JUN kinase activity (GO:0007257)|cell communication (GO:0007154)|cell maturation (GO:0048469)|cellular calcium ion homeostasis (GO:0006874)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cell motility (GO:2000147)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell dendrite assembly (GO:2000549)|positive regulation of endocytosis (GO:0045807)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell projection assembly (GO:0060491)|release of sequestered calcium ion into cytosol (GO:0051209)|response to nitric oxide (GO:0071731)|response to organic cyclic compound (GO:0014070)|response to prostaglandin E (GO:0034695)|response to virus (GO:0009615)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR chemokine receptor binding (GO:0048020)|CCR10 chemokine receptor binding (GO:0031735)|CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGGCGGCCCCTCAGTGTGGT	0.622																																					Melanoma(129;177 1723 4710 11020 27705)	uc003zvn.3																			0											c.(196-198)aGg>aAg		Homo sapiens chemokine (C-C motif) ligand 19 (CCL19), mRNA.							46	45	45					9																	34690006		2203	4300	6503	SO:0001583	missense	6363				activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity	g.chr9:34690006C>T	AB000887	CCDS6570.1	9p13	2014-05-14	2002-08-22	2002-08-23	ENSG00000172724	ENSG00000172724		"Chemokine ligands", "Endogenous ligands"	10617	protein-coding gene	gene with protein product	"CC chemokine ligand 19", "macrophage inflammatory protein 3-beta", "beta chemokine exodus-3", "CK beta-11", "EBI1-ligand chemokine"	602227	"small inducible cytokine subfamily A (Cys-Cys), member 19"	SCYA19		9153236	Standard	NM_006274		Approved	ELC, MIP-3b, exodus-3, CKb11	uc003zvn.3	Q99731	OTTHUMG00000019833	ENST00000311925.2:c.197G>A	9.37:g.34690006C>T	ENSP00000308815:p.Arg66Lys					CCL19_uc010mkf.3_Intron	p.R66K	NM_006274	NP_006265	Q99731	CCL19_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	335	-	all_epithelial(49;0.102)		66					O00697|O00736	Missense_Mutation	SNP	ENST00000311925.2	37	c.197G>A	CCDS6570.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.389284	0.01185	.	.	ENSG00000172724	ENST00000311925;ENST00000378800	T;T	0.03889	3.77;3.77	5.09	-0.336	0.12658	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.267395	0.34507	N	0.003908	T	0.01765	0.0056	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.48258	-0.9051	9	0.02654	T	1	-2.8754	7.3624	0.26754	0.0:0.4558:0.0:0.5442	.	66	Q99731	CCL19_HUMAN	K	66	ENSP00000308815:R66K;ENSP00000368077:R66K	ENSP00000308815:R66K	R	-	2	0	CCL19	34680006	0.037000	0.19845	0.003000	0.11579	0.340000	0.28889	0.381000	0.20619	0.047000	0.15862	-0.229000	0.12294	AGG		0.622	CCL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052225.1	NM_006274		T	34690006	C	T	34690006	3	4	45	1	0	0	0	0	1	0	0	0	2890	681	24	3	107	3	CCL19	9	34690006	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	15639856	34690006	106523425	46	2881											
PAX5	5079	broad.mit.edu	37	chr9	36846902	36846902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaatactgagggtggctgTagggactcccggaaaactca	12	7	14	8	1	1	1	1	1	0	0	2	4	2	4	1	5	2	2	1	5	5	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:36846902T>C	ENST00000358127.4	-	9	1111	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	PAX5_ENST00000522003.1_Missense_Mutation_p.Y238C|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.T269A|PAX5_ENST00000377852.2_Missense_Mutation_p.Y312C|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.Y303C|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.Y246C	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	346					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(11)|p.Y346C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGGGTGGCTGTAGGGACTCCC	0.597			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	uc003zzo.1				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	12	Unknown(11)|Substitution - Missense(1)	p.?(11)|p.Y346C(2)	haematopoietic_and_lymphoid_tissue(11)|central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(1036-1038)tAc>tGc		Homo sapiens paired box 5 (PAX5), mRNA.							69	66	67					9																	36846902		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36846902T>C		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1037A>G	9.37:g.36846902T>C	ENSP00000350844:p.Tyr346Cys					PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron	p.Y346C	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	8	1485	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	346					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.1037A>G	CCDS6607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.31|19.31	3.802494|3.802494	0.70682|0.70682	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000523241|ENST00000358127;ENST00000377849;ENST00000377852;ENST00000446742;ENST00000522003;ENST00000414447;ENST00000524340	D|T;T;T;T;T;T	0.97731|0.53857	-4.51|0.6;0.6;0.6;0.6;0.6;0.6	5.52|5.52	4.35|4.35	0.52113|0.52113	.|.	.|0.201442	.|0.43747	.|D	.|0.000540	T|T	0.69006|0.69006	0.3063|0.3063	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D	0.16603|0.89917	0.018|1.0;1.0;1.0;0.999;0.999	B|D;D;D;D;D	0.14578|0.91635	0.011|0.946;0.998;0.999;0.996;0.996	T|T	0.68584|0.68584	-0.5370|-0.5370	9|10	0.41790|0.46703	T|T	0.15|0.11	.|.	11.5711|11.5711	0.50834|0.50834	0.0:0.0:0.1499:0.8501|0.0:0.0:0.1499:0.8501	.|.	269|303;246;173;312;346	E7EQT0|C0KTF7;C0KTF9;C0KTE2;Q6S731;Q02548	.|.;.;.;.;PAX5_HUMAN	A|C	269|346;257;312;246;238;303;173	ENSP00000429637:T269A|ENSP00000350844:Y346C;ENSP00000367083:Y312C;ENSP00000404687:Y246C;ENSP00000429359:Y238C;ENSP00000412188:Y303C;ENSP00000429404:Y173C	ENSP00000429637:T269A|ENSP00000350844:Y346C	T|Y	-|-	1|2	0|0	PAX5|PAX5	36836902|36836902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.680000|6.680000	0.74518|0.74518	0.883000|0.883000	0.36040|0.36040	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.597	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			C	36846902	T	C	36846902	3	2	45	1	0	0	0	0	1	0	0	0	11482	1638	57	4	146	4	PAX5	9	36846902	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	2156896	36846902	104366529	47	2882											
RAD23B	5887	broad.mit.edu	37	chr9	110084309	110084309	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgtggttgacccccctCaagcagctagtactggggct	7	9	13	12	0	1	1	1	1	0	0	1	1	1	1	3	4	3	6	3	4	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:110084309C>T	ENST00000358015.3	+	7	1078	c.727C>T	c.(727-729)Caa>Taa	p.Q243*	RAD23B_ENST00000416373.2_Nonsense_Mutation_p.Q171*	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	243					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGACCCCCCTCAAGCAGCTAG	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(727-729)Caa>Taa	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.							47	48	48					9																	110084309		2203	4300	6503	SO:0001587	stop_gained	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084309C>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.727C>T	9.37:g.110084309C>T	ENSP00000350708:p.Gln243*					RAD23B_uc011lwa.2_Nonsense_Mutation_p.Q243*|RAD23B_uc022blj.1_Nonsense_Mutation_p.Q171*|RAD23B_uc011lwb.2_Nonsense_Mutation_p.Q222*	p.Q243*	NM_002874	NP_002865	P54727	RD23B_HUMAN			6	1121	+			243					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Nonsense_Mutation	SNP	ENST00000358015.3	37	c.727C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	40	7.969147	0.98588	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	.	.	.	5.28	5.28	0.74379	.	0.803616	0.11034	N	0.606887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-6.9684	19.2797	0.94048	0.0:1.0:0.0:0.0	.	.	.	.	X	243;171	.	ENSP00000350708:Q243X	Q	+	1	0	RAD23B	109124130	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	5.249000	0.65427	2.626000	0.88956	0.555000	0.69702	CAA		0.458	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		T	110084309	C	T	110084309	4	4	45	1	0	0	0	0	0	1	0	0	12983	827	29	3	753	3	RAD23B	9	110084309	Nonsense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	73237407	110084309	31129122	48	2883											
C9orf91	203197	broad.mit.edu	37	chr9	117396107	117396107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagccctcctgagacaccgGgtgctgctgggggtgacaga	7	6	17	11	1	0	3	0	2	0	2	1	5	1	4	3	4	3	2	3	4	0	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:117396107G>A	ENST00000288502.4	+	6	971	c.534G>A	c.(532-534)cgG>cgA	p.R178R	C9orf91_ENST00000374049.4_Silent_p.R179R			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	178						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGAGACACCGGGTGCTGCTGG	0.567																																						uc004bjd.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(532-534)cgG>cgA		Homo sapiens chromosome 9 open reading frame 91 (C9orf91), mRNA.							106	90	95					9																	117396107		2203	4300	6503	SO:0001819	synonymous_variant	203197					integral to membrane		g.chr9:117396107G>A	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.534G>A	9.37:g.117396107G>A						C9orf91_uc004bje.4_Silent_p.R157R|C9orf91_uc004bjf.4_Silent_p.R77R	p.R178R	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN			5	751	+			178					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	c.534G>A	CCDS6808.1																																																																																				0.567	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		A	117396107	G	A	117396107	2	1	45	1	0	0	0	0	0	0	0	1	2505	1219	43	3		3	C9orf91	9	117396107	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	7311798	117396107	23817324	49	2884											
SEC16A	9919	broad.mit.edu	37	chr9	139358176	139358176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcctcctgctcagacGtgtgctgcagcaaggcctac	7	9	10	15	1	2	1	1	0	1	1	4	1	3	1	3	1	5	5	3	1	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:139358176G>A	ENST00000371706.3	-	8	3962	c.3929C>T	c.(3928-3930)aCg>aTg	p.T1310M	SEC16A_ENST00000431893.2_Missense_Mutation_p.T1310M|SEC16A_ENST00000313050.7_Missense_Mutation_p.T1488M|SEC16A_ENST00000290037.6_Missense_Mutation_p.T1310M			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1310					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCTCAGACGTGTGCTGCAG	0.647																																						uc004chx.3																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4462-4464)aCg>aTg		Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.							61	70	67					9																	139358176		2070	4198	6268	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139358176G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3929C>T	9.37:g.139358176G>A	ENSP00000360771:p.Thr1310Met					SEC16A_uc004chv.4_Missense_Mutation_p.T878M|SEC16A_uc004chw.3_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.3_Missense_Mutation_p.T1488M	p.T1488M	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	9	4772	-		Myeloproliferative disorder(178;0.0511)	1310					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4463C>T		.	.	.	.	.	.	.	.	.	.	G	16.71	3.199149	0.58126	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.99	1.76	0.24704	.	0.331335	0.35677	N	0.003055	T	0.55737	0.1939	L	0.50333	1.59	0.39409	D	0.966716	D;D;D;D	0.71674	0.96;0.994;0.994;0.998	B;P;P;D	0.65010	0.24;0.817;0.817;0.931	T	0.50608	-0.8808	10	0.33940	T	0.23	-8.6793	10.9126	0.47118	0.0751:0.4901:0.4348:0.0	.	1488;1310;1310;878	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	M	1488;210;1310;1310;1310;878	ENSP00000325827:T1488M;ENSP00000403525:T210M;ENSP00000360771:T1310M;ENSP00000290037:T1310M;ENSP00000387583:T1310M	ENSP00000290037:T1310M	T	-	2	0	SEC16A	138477997	0.945000	0.32115	0.080000	0.20451	0.822000	0.46500	1.511000	0.35801	0.048000	0.15891	0.609000	0.83330	ACG		0.647	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139358176	G	A	139358176	3	1	45	1	0	0	0	0	1	0	0	0	13986	1145	40	1	2702	1	SEC16A	9	139358176	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	21962069	139358176	1855255	50	2885											
PLXDC2	84898	broad.mit.edu	37	chr10	20466312	20466312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcagattggcttcaaCtgcagttggtgtagtaaact	9	15	9	8	0	3	1	2	0	2	1	4	1	3	1	0	2	3	5	0	2	4	6			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr10:20466312C>G	ENST00000377252.4	+	9	1876	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.N296K	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	345	PSI.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGGCTTCAACTGCAGTTGGT	0.313																																						uc001iqg.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1033-1035)aaC>aaG		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							130	117	121					10																	20466312		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20466312C>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1035C>G	10.37:g.20466312C>G	ENSP00000366460:p.Asn345Lys					PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.N345K	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			8	1672	+			345			PSI.		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1035C>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964120	0.74131	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.16597	2.33;2.33	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.40543	1.245	0.80722	D	1	P;P	0.38827	0.649;0.537	B;P	0.46975	0.322;0.533	T	0.01051	-1.1468	10	0.33141	T	0.24	.	17.604	0.88033	0.0:1.0:0.0:0.0	.	296;345	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	K	345;296;208;331	ENSP00000366460:N345K;ENSP00000366450:N296K	ENSP00000366446:N208K	N	+	3	2	PLXDC2	20506318	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.388000	0.66249	2.440000	0.82611	0.650000	0.86243	AAC		0.313	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		G	20466312	C	G	20466312	3	3	45	1	0	0	0	0	1	0	0	0	12118	564	20	5	1069	5	PLXDC2	10	20466312	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		20466312	115068435	51	2886											
OR4X2	119764	broad.mit.edu	37	chr11	48266683	48266683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatttttctggtacttTctcccaaccaggaggtgcag	9	14	8	10	0	3	0	1	0	2	0	4	1	3	1	2	3	3	2	2	3	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:48266683T>C	ENST00000302329.3	+	1	76	c.28T>C	c.(28-30)Tct>Cct	p.S10P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGGTACTTTCTCCCAACCA	0.423																																						uc001ngs.1																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(28-30)Tct>Cct		Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.							171	142	152					11																	48266683		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266683T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.28T>C	11.37:g.48266683T>C	ENSP00000307751:p.Ser10Pro						p.S10P	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			0	28	+			10					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.28T>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750272	0.49257	.	.	ENSG00000172208	ENST00000302329	T	0.00495	6.99	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000083	T	0.01061	0.0035	L	0.51914	1.62	0.28633	N	0.90757	D	0.63046	0.992	P	0.60682	0.878	T	0.46456	-0.9190	10	0.87932	D	0	.	11.4108	0.49925	0.0:0.0:0.0:1.0	.	10	Q8NGF9	OR4X2_HUMAN	P	10	ENSP00000307751:S10P	ENSP00000307751:S10P	S	+	1	0	OR4X2	48223259	0.000000	0.05858	0.838000	0.33150	0.170000	0.22686	0.142000	0.16096	1.935000	0.56089	0.528000	0.53228	TCT		0.423	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		C	48266683	T	C	48266683	3	2	45	1	0	0	0	0	1	0	0	0	11085	1783	62	4	30	4	OR4X2	11	48266683	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08		48266683	86739833	52	2887											
LRRC55	219527	broad.mit.edu	37	chr11	56950158	56950158	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatccagcgctgtacagcagGtaatagaggggcagaacggg	12	5	16	8	2	0	2	0	0	0	2	1	3	1	2	1	4	4	5	1	4	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:56950158G>A	ENST00000497933.1	+	1	937		c.e1+1			NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55						ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGTACAGCAGGTAATAGAGGG	0.587																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.e1+1		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							55	52	53					11																	56950158		2201	4296	6497	SO:0001630	splice_region_variant	219527					integral to membrane		g.chr11:56950158G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.790+1G>A	11.37:g.56950158G>A							p.D264_splice	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	937	+			234			LRRCT.		A7E2U7|B2RN81	Splice_Site	SNP	ENST00000497933.1	37	c.790_splice	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141723	0.37825	.	.	ENSG00000183908	ENST00000497933	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3896	0.83531	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC55	56706734	1.000000	0.71417	0.996000	0.52242	0.354000	0.29330	6.795000	0.75140	2.608000	0.88229	0.561000	0.74099	.		0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	Intron	A	56950158	G	A	56950158	5	1	45	1	0	0	0	0	0	0	1	0	9011	1275	44	3	793	3	LRRC55	11	56950158	Splice_Site	SNP	G	TCGA-06-0214-01A-02D-1491-08	8683475	56950158	78056358	53	2888											
APLNR	187	broad.mit.edu	37	chr11	57003536	57003536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggcctggcggaagcGggggtcgaaaaaggcataga	11	4	19	7	3	0	1	0	0	0	1	1	3	0	2	1	7	2	2	1	7	4	1	rs137997556		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57003536G>A	ENST00000606794.1	-	1	1139	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	315					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R315C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCGGAAGCGGGGGTCGAAA	0.587																																						uc001njo.3																			1	Substitution - Missense(1)	p.R315C(2)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(943-945)Cgc>Tgc		Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.							89	51	64					11																	57003536		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003536G>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.943C>T	11.37:g.57003536G>A	ENSP00000475344:p.Arg315Cys					APLNR_uc001njn.4_Non-coding_Transcript	p.R315C	NM_005161	NP_005152	P35414	APJ_HUMAN			0	1392	-			315						Missense_Mutation	SNP	ENST00000606794.1	37	c.943C>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462700	0.63513	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.38560	1.13	5.46	5.46	0.80206	.	0.127696	0.53938	D	0.000048	T	0.44829	0.1312	N	0.14661	0.345	0.48288	D	0.999623	D	0.89917	1.0	D	0.63192	0.912	T	0.49818	-0.8899	10	0.72032	D	0.01	-28.5714	13.8271	0.63357	0.0:0.0:0.8468:0.1532	.	315	P35414	APJ_HUMAN	C	315;196;234	ENSP00000257254:R315C	ENSP00000257254:R315C	R	-	1	0	APLNR	56760112	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	5.546000	0.67243	2.551000	0.86045	0.655000	0.94253	CGC		0.587	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		A	57003536	G	A	57003536	3	1	45	1	0	0	0	0	1	0	0	0	777	1116	39	2	203	2	APLNR	11	57003536	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	53378	57003536	78002980	54	2889											
SMTNL1	219537	broad.mit.edu	37	chr11	57310651	57310651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctctcaggaggagaCaggccagaggaaagagtgca	14	3	15	9	0	1	3	1	0	1	3	2	7	1	5	2	4	2	1	2	4	1	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57310651C>T	ENST00000399154.2	+	1	536	c.536C>T	c.(535-537)aCa>aTa	p.T179I	SMTNL1_ENST00000457912.1_Missense_Mutation_p.T197I|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T179I			A8MU46	SMTL1_HUMAN	smoothelin-like 1	179	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGAGGAGACAGGCCAGAGG	0.547																																						uc021qjh.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(535-537)aCa>aTa		Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.							49	53	51					11																	57310651		2090	4216	6306	SO:0001583	missense	219537							g.chr11:57310651C>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.536C>T	11.37:g.57310651C>T	ENSP00000382108:p.Thr179Ile						p.T179I	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			0	538	+			179						Missense_Mutation	SNP	ENST00000399154.2	37	c.536C>T		.	.	.	.	.	.	.	.	.	.	C	7.547	0.661882	0.14645	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02763	4.17;4.17;4.24	3.56	-7.12	0.01537	.	1.595290	0.05188	U	0.502618	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.49607	T	0.09	.	3.527	0.07762	0.2451:0.4477:0.2036:0.1036	.	197	C9J621	.	I	197;179;179	ENSP00000406485:T197I;ENSP00000432651:T179I;ENSP00000382108:T179I	ENSP00000382108:T179I	T	+	2	0	SMTNL1	57067227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.487000	0.02310	-1.486000	0.01851	-2.265000	0.00278	ACA		0.547	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		T	57310651	C	T	57310651	3	4	45	1	0	0	0	0	1	0	0	0	14815	478	17	3	596	3	SMTNL1	11	57310651	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	307115	57310651	77695865	55	2890											
CD248	57124	broad.mit.edu	37	chr11	66082764	66082764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gataatgggaagctgggtggCctgggttctgaggacaaggg	9	8	19	5	0	1	1	0	1	1	0	1	4	1	3	1	6	1	2	1	6	3	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:66082764C>T	ENST00000311330.3	-	1	1751	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	579	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						AGCTGGGTGGCCTGGGTTCTG	0.612																																						uc001ohm.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1735-1737)Gcc>Acc		Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	Cefalotin(DB00456)						123	136	131					11																	66082764		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082764C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1735G>A	11.37:g.66082764C>T	ENSP00000308117:p.Ala579Thr						p.A579T	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			0	1752	-			579			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1735G>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442504	0.43326	.	.	ENSG00000174807	ENST00000311330	D	0.87729	-2.29	4.41	-1.49	0.08718	.	.	.	.	.	T	0.77896	0.4199	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63440	-0.6637	9	0.44086	T	0.13	-4.899	2.895	0.05688	0.1344:0.4602:0.2664:0.139	.	579	Q9HCU0	CD248_HUMAN	T	579	ENSP00000308117:A579T	ENSP00000308117:A579T	A	-	1	0	CD248	65839340	0.035000	0.19736	0.085000	0.20634	0.277000	0.26821	0.206000	0.17375	0.072000	0.16694	0.460000	0.39030	GCC		0.612	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		T	66082764	C	T	66082764	3	4	45	1	0	0	0	0	1	0	0	0	2989	739	26	3	542	3	CD248	11	66082764	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	8772113	66082764	68923752	56	2891											
C12orf57	113246	broad.mit.edu	37	chr12	7054965	7054965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcgcttggtcaagtcCtacgaagcccaggatcctga	8	11	10	12	2	1	1	1	1	0	0	4	3	3	2	3	2	3	2	3	2	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7054965C>T	ENST00000229281.5	+	3	360	c.261C>T	c.(259-261)tcC>tcT	p.S87S	C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000540506.2_Silent_p.S52S|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_5'Flank|PTPN6_ENST00000447931.2_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_Silent_p.S58S	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	87						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						TGGTCAAGTCCTACGAAGCCC	0.602																																						uc001qrz.3																			0				kidney(1)|large_intestine(1)	2						c.(259-261)tcC>tcT		Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.							99	76	84					12																	7054965		2203	4300	6503	SO:0001819	synonymous_variant	113246							g.chr12:7054965C>T	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.261C>T	12.37:g.7054965C>T						PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	p.S87S	NM_138425	NP_612434	Q99622	C10_HUMAN			2	343	+			87					B2R4Q6	Silent	SNP	ENST00000229281.5	37	c.261C>T	CCDS8571.1																																																																																				0.602	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		T	7054965	C	T	7054965	2	4	45	1	0	0	0	0	0	0	0	1	1701	668	24	3		3	C12orf57	12	7054965	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		7054965	126796930	57	2892											
ACSM4	341392	broad.mit.edu	37	chr12	7469737	7469737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatattttgcagattcGcctctgaagagcacagctgt	9	12	10	10	1	1	3	0	1	1	2	3	3	2	3	2	1	3	3	2	1	2	4	rs139422294		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7469737G>A	ENST00000399422.4	+	4	673	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	209					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TTGCAGATTCGCCTCTGAAGA	0.483													G|||	11	0.00219649	0	0	5008	,	,		-128	0.0089		0	False		,,,				2504	0.002					uc001qsx.1																			0		p.F208F(1)		endometrium(6)|kidney(1)|lung(14)	21						c.(625-627)Gcc>Acc		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.		G	THR/ALA	0,4108		0,0,2054	61	63	63		625	2.8	0.4	12	dbSNP_134	63	1,8405		0,1,4202	yes	missense	ACSM4	NM_001080454.1	58	0,1,6256	AA,AG,GG		0.0119,0.0,0.0080	benign	209/581	7469737	1,12513	2054	4203	6257	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469737G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.625G>A	12.37:g.7469737G>A	ENSP00000382349:p.Ala209Thr						p.A209T	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			3	625	+			209					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.625G>A	CCDS44825.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	G	15.05	2.718871	0.48622	0.0	1.19E-4	ENSG00000215009	ENST00000399422	T	0.40225	1.04	3.73	2.8	0.32819	AMP-dependent synthetase/ligase (1);	0.191696	0.24894	U	0.034748	T	0.34774	0.0909	M	0.77486	2.375	0.29564	N	0.850381	P	0.47034	0.889	B	0.40940	0.344	T	0.48736	-0.9009	10	0.66056	D	0.02	-12.5095	10.2238	0.43214	0.0:0.0:0.7998:0.2002	.	209	P0C7M7	ACSM4_HUMAN	T	209	ENSP00000382349:A209T	ENSP00000382349:A209T	A	+	1	0	ACSM4	7361004	0.007000	0.16637	0.430000	0.26722	0.490000	0.33462	1.309000	0.33539	0.863000	0.35553	0.491000	0.48974	GCC		0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		A	7469737	G	A	7469737	3	1	45	1	0	0	0	0	1	0	0	0	186	1087	38	1	639	1	ACSM4	12	7469737	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	414772	7469737	126382158	58	2893											
TM7SF3	51768	broad.mit.edu	37	chr12	27127064	27127064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttccataacttgtatGggtggggagggaagaacggt	9	11	15	6	1	0	1	0	0	0	1	1	3	1	3	1	5	3	2	1	5	4	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:27127064G>A	ENST00000343028.4	-	12	1772	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	516						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TAACTTGTATGGGTGGGGAGG	0.493																																						uc010sjl.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1546-1548)cCa>cTa		Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.							116	105	109					12																	27127064		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27127064G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1547C>T	12.37:g.27127064G>A	ENSP00000342322:p.Pro516Leu						p.P516L	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			11	1785	-	Colorectal(261;0.0847)		516					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1547C>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314083	0.95655	.	.	ENSG00000064115	ENST00000343028	T	0.34859	1.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.52109	-0.8619	10	0.72032	D	0.01	-18.3817	19.9662	0.97271	0.0:0.0:1.0:0.0	.	516	Q9NS93	TM7S3_HUMAN	L	516	ENSP00000342322:P516L	ENSP00000342322:P516L	P	-	2	0	TM7SF3	27018331	1.000000	0.71417	0.968000	0.41197	0.951000	0.60555	9.417000	0.97391	2.793000	0.96121	0.655000	0.94253	CCA		0.493	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		A	27127064	G	A	27127064	3	1	45	1	0	0	0	0	1	0	0	0	15972	1348	47	3	169	3	TM7SF3	12	27127064	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	19657327	27127064	106724831	59	2894											
DIP2B	57609	broad.mit.edu	37	chr12	51122397	51122397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgagttgtactcttctCggcagatcgccatctgcctt	6	14	10	11	2	3	2	0	1	3	1	5	2	3	2	2	1	2	3	2	1	1	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:51122397C>T	ENST00000301180.5	+	30	3611	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1193						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTACTCTTCTCGGCAGATCGC	0.532																																						uc001rwv.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3577-3579)Cgg>Tgg		Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.							139	111	120					12																	51122397		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51122397C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3577C>T	12.37:g.51122397C>T	ENSP00000301180:p.Arg1193Trp					DIP2B_uc009zlt.3_Missense_Mutation_p.R623W	p.R1193W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			29	3733	+			1193					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3577C>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683005	0.88542	.	.	ENSG00000066084	ENST00000301180	T	0.10763	2.84	4.63	4.63	0.57726	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29852	-0.9998	10	0.87932	D	0	-14.2819	18.0704	0.89404	0.0:1.0:0.0:0.0	.	1193	Q9P265	DIP2B_HUMAN	W	1193	ENSP00000301180:R1193W	ENSP00000301180:R1193W	R	+	1	2	DIP2B	49408664	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.807000	0.55591	2.585000	0.87301	0.655000	0.94253	CGG		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		T	51122397	C	T	51122397	3	4	45	1	0	0	0	0	1	0	0	0	4528	875	31	2	3695	2	DIP2B	12	51122397	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	23995333	51122397	82729498	60	2895											
ACACB	32	broad.mit.edu	37	chr12	109680275	109680275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcggcaacaagcaagggCcccagcacgggatgctgatc	10	5	12	14	2	0	1	0	1	0	0	2	2	0	2	3	3	4	4	3	3	3	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:109680275C>G	ENST00000338432.7	+	37	5175	c.5056C>G	c.(5056-5058)Ccc>Gcc	p.P1686A	ACACB_ENST00000543201.1_Missense_Mutation_p.P352A|ACACB_ENST00000377854.5_Missense_Mutation_p.P1616A|ACACB_ENST00000377848.3_Missense_Mutation_p.P1686A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1686					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CAAGCAAGGGCCCCAGCACGG	0.522																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5056-5058)Ccc>Gcc		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						108	100	103					12																	109680275		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109680275C>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5056C>G	12.37:g.109680275C>G	ENSP00000341044:p.Pro1686Ala					ACACB_uc001toc.3_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P352A	p.P1686A	NM_001093	NP_001084	O00763	ACACB_HUMAN			36	5175	+			1686					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5056C>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734513	0.30774	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000537347	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.95	1.26	0.21427	Acetyl-CoA carboxylase, central domain (1);	0.352416	0.32473	N	0.006053	T	0.30479	0.0766	L	0.33792	1.035	0.29285	N	0.869758	B	0.06786	0.001	B	0.17722	0.019	T	0.24261	-1.0165	10	0.38643	T	0.18	.	11.8569	0.52441	0.1294:0.555:0.3156:0.0	.	1686	O00763	ACACB_HUMAN	A	1686;1686;1616;917;352;11	ENSP00000341044:P1686A;ENSP00000367079:P1686A;ENSP00000367085:P1616A;ENSP00000444075:P352A	ENSP00000341044:P1686A	P	+	1	0	ACACB	108164658	0.453000	0.25721	0.728000	0.30774	0.995000	0.86356	2.609000	0.46317	0.436000	0.26393	0.650000	0.86243	CCC		0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		G	109680275	C	G	109680275	3	3	45	1	0	0	0	0	1	0	0	0	107	739	26	5	5198	5	ACACB	12	109680275	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	58557878	109680275	24171620	61	2896											
KSR2	283455	broad.mit.edu	37	chr12	118298128	118298128	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgcacatcgacgattcGgaaccagtgccgtagctggg	8	8	13	12	5	0	0	0	0	0	0	2	3	0	1	2	2	4	3	2	2	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:118298128G>A	ENST00000339824.5	-	2	1016	c.289C>T	c.(289-291)Cga>Tga	p.R97*	KSR2_ENST00000425217.1_Nonsense_Mutation_p.R68*			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	97					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGACGATTCGGAACCAGTGC	0.627																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(202-204)Cga>Tga		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							60	64	63					12																	118298128		1568	3582	5150	SO:0001587	stop_gained	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118298128G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.289C>T	12.37:g.118298128G>A	ENSP00000339952:p.Arg97*						p.R68*	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			1	257	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		97					A0PJT2|Q3B828|Q8N775	Nonsense_Mutation	SNP	ENST00000339824.5	37	c.202C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.735242	0.96865	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	.	.	.	5.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.0377	0.53435	0.0:0.0:0.572:0.428	.	.	.	.	X	68;97	.	ENSP00000339952:R97X	R	-	1	2	KSR2	116782511	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.633000	0.61318	1.232000	0.43678	0.313000	0.20887	CGA		0.627	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		A	118298128	G	A	118298128	4	1	45	1	0	0	0	0	0	1	0	0	8582	1124	39	2	2639	2	KSR2	12	118298128	Nonsense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	8617853	118298128	15553767	62	2897											
RBM25	58517	broad.mit.edu	37	chr14	73569957	73569957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaaattgagaaagaaCggagagaaagagagagggag	20	2	17	2	1	0	5	0	1	0	5	0	12	0	8	0	3	1	0	0	3	4	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr14:73569957C>T	ENST00000261973.7	+	10	1210	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RBM25_ENST00000527432.1_Missense_Mutation_p.R309W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	309	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		tgagaaagaacggagagaaag	0.428																																						uc010ttu.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(925-927)Cgg>Tgg		Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.							86	75	79					14																	73569957		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73569957C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.925C>T	14.37:g.73569957C>T	ENSP00000261973:p.Arg309Trp					RBM25_uc001xno.3_Missense_Mutation_p.R309W|RBM25_uc001xnp.3_Missense_Mutation_p.R104W	p.R309W	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	10	1201	+			309			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.925C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517611	0.44763	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.43294	0.95;0.95	5.35	5.35	0.76521	.	0.174450	0.50627	D	0.000107	T	0.60483	0.2272	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.61744	-0.7000	10	0.72032	D	0.01	.	17.208	0.86923	0.0:1.0:0.0:0.0	.	309	P49756	RBM25_HUMAN	W	309	ENSP00000261973:R309W;ENSP00000431150:R309W	ENSP00000261973:R309W	R	+	1	2	RBM25	72639710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.875000	0.48491	2.665000	0.90641	0.591000	0.81541	CGG		0.428	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		T	73569957	C	T	73569957	3	4	45	1	0	0	0	0	1	0	0	0	13125	527	19	1	959	1	RBM25	14	73569957	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		73569957	33779583	63	2898											
MKRN3	7681	broad.mit.edu	37	chr15	23811493	23811493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgagagagacaatgcagaCcgtggagctgctggaggagc	11	4	17	9	2	0	3	0	0	0	3	0	8	0	6	2	3	4	3	2	3	1	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:23811493C>T	ENST00000314520.3	+	1	1040	c.564C>T	c.(562-564)gaC>gaT	p.D188D	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	188					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ACAATGCAGACCGTGGAGCTG	0.617																																						uc001ywh.4																			0		p.A187A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(562-564)gaC>gaT		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							35	40	38					15																	23811493		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811493C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.564C>T	15.37:g.23811493C>T						MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.D188D	p.D188D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	1040	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	188						Silent	SNP	ENST00000314520.3	37	c.564C>T	CCDS10013.1																																																																																				0.617	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811493	C	T	23811493	2	4	45	1	0	0	0	0	0	0	0	1	9608	506	18	3		3	MKRN3	15	23811493	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		23811493	78719899	64	2899											
GABRA5	2558	broad.mit.edu	37	chr15	27193227	27193227	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccctctgaagagaagacTtctgaaagcaaaaagactta	19	7	7	8	0	2	5	0	2	2	3	2	6	2	5	1	0	2	1	1	0	7	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:27193227T>A	ENST00000335625.5	+	11	2124	c.1236T>A	c.(1234-1236)acT>acA	p.T412T	GABRA5_ENST00000355395.5_Silent_p.T412T|GABRA5_ENST00000400081.3_Silent_p.T412T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	412					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAGAGAAGACTTCTGAAAGCA	0.453																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1234-1236)acT>acA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						47	45	45					15																	27193227		1851	4096	5947	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193227T>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1236T>A	15.37:g.27193227T>A						GABRA5_uc021sgi.1_Silent_p.T412T|GABRA5_uc001zbe.1_Non-coding_Transcript	p.T412T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1768	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	412					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.1236T>A	CCDS45194.1																																																																																				0.453	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27193227	T	A	27193227	2	1	45	1	0	0	0	0	0	0	0	1	6164	1596	56	5		5	GABRA5	15	27193227	Silent	SNP	T	TCGA-06-0214-01A-02D-1491-08	3381734	27193227	75338165	65	2900											
DNAJA4	55466	broad.mit.edu	37	chr15	78567950	78567950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggatcatagtgtctttCagagacgaggccatgacttg	12	10	12	7	1	3	3	2	1	1	2	3	6	3	4	1	2	0	0	1	2	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:78567950C>G	ENST00000394852.3	+	5	947	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	DNAJA4_ENST00000446172.2_Missense_Mutation_p.Q226E|DNAJA4_ENST00000343789.3_Missense_Mutation_p.Q253E|DNAJA4_ENST00000394855.3_Missense_Mutation_p.Q282E	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	253					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TAGTGTCTTTCAGAGACGAGG	0.413																																						uc002bdi.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(844-846)Cag>Gag		Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.							137	120	126					15																	78567950		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78567950C>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.757C>G	15.37:g.78567950C>G	ENSP00000378321:p.Gln253Glu					DNAJA4_uc002bdj.2_Missense_Mutation_p.Q253E|DNAJA4_uc002bdk.3_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.2_Missense_Mutation_p.Q37E	p.Q282E	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN			5	1013	+			253					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.844C>G	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931364	0.52866	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.63	5.63	0.86233	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	N	0.21448	0.665	0.58432	D	0.999994	B;B;B	0.28350	0.208;0.024;0.09	B;B;B	0.28916	0.065;0.028;0.096	T	0.07712	-1.0758	10	0.36615	T	0.2	-13.1154	18.6978	0.91607	0.0:1.0:0.0:0.0	.	226;253;282	E9PDM9;Q8WW22;Q8WW22-2	.;DNJA4_HUMAN;.	E	282;253;253;226	ENSP00000378324:Q282E;ENSP00000339581:Q253E;ENSP00000378321:Q253E;ENSP00000413499:Q226E	ENSP00000339581:Q253E	Q	+	1	0	DNAJA4	76355005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.631000	0.54280	2.652000	0.90054	0.655000	0.94253	CAG		0.413	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		G	78567950	C	G	78567950	3	3	45	1	0	0	0	0	1	0	0	0	4614	827	29	5	921	5	DNAJA4	15	78567950	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	51374723	78567950	23963442	66	2901											
LRRC28	123355	broad.mit.edu	37	chr15	99901711	99901711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctaccacagcttgcTgaaaggtacgtgggacttct	10	11	9	11	1	2	1	1	1	1	0	2	2	2	2	2	2	5	3	2	2	4	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:99901711T>A	ENST00000301981.3	+	8	1106	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.L289Q|LRRC28_ENST00000422500.2_Missense_Mutation_p.L220Q	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	289										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CACAGCTTGCTGAAAGGTACG	0.458											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bva.1																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(865-867)cTg>cAg		Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.							167	143	151					15																	99901711		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99901711T>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.866T>A	15.37:g.99901711T>A	ENSP00000304923:p.Leu289Gln		OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	p.L289Q	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		7	1021	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		289					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.866T>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258074	0.39896	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.48201	0.97;0.82;1.46	5.25	-0.188	0.13264	.	0.691487	0.14660	N	0.306013	T	0.37348	0.1000	L	0.44542	1.39	0.09310	N	1	B;B;B	0.32526	0.057;0.374;0.036	B;B;B	0.26770	0.024;0.073;0.023	T	0.16541	-1.0399	10	0.54805	T	0.06	.	13.8439	0.63455	0.0:0.0:0.5088:0.4912	.	220;289;289	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	Q	289;289;220	ENSP00000304923:L289Q;ENSP00000404520:L289Q;ENSP00000398606:L220Q	ENSP00000304923:L289Q	L	+	2	0	LRRC28	97719234	0.001000	0.12720	0.000000	0.03702	0.114000	0.19823	0.776000	0.26704	-0.206000	0.10203	0.533000	0.62120	CTG		0.458	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		A	99901711	T	A	99901711	3	1	45	1	0	0	0	0	1	0	0	0	8982	1580	55	5	892	5	LRRC28	15	99901711	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	21333761	99901711	2629681	67	2902											
RBBP6	5930	broad.mit.edu	37	chr16	24583037	24583037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcacaaagccacttatgaTactaaacggccaaatgaaga	18	7	7	9	1	1	3	1	2	0	1	1	4	1	3	2	1	3	0	2	1	7	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr16:24583037T>C	ENST00000319715.4	+	18	5082	c.4650T>C	c.(4648-4650)gaT>gaC	p.D1550D	RBBP6_ENST00000381039.3_Silent_p.D710D|RBBP6_ENST00000348022.2_Silent_p.D1516D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1550					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCACTTATGATACTAAACGGC	0.363																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4648-4650)gaT>gaC		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.							60	56	57					16																	24583037		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583037T>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4650T>C	16.37:g.24583037T>C						RBBP6_uc002dmi.3_Silent_p.D1516D|RBBP6_uc010bxr.3_Silent_p.D710D|RBBP6_uc002dmk.3_Silent_p.D1383D	p.D1550D	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	5690	+			1550					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.4650T>C	CCDS10621.1																																																																																				0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24583037	T	C	24583037	2	2	45	1	0	0	0	0	0	0	0	1	13103	1403	49	4		4	RBBP6	16	24583037	Silent	SNP	T	TCGA-06-0214-01A-02D-1491-08		24583037	65771716	68	2903											
PITPNA	5306	broad.mit.edu	37	chr17	1456417	1456417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttttactggcctcagcCacagaatacagctgccccac	10	10	6	15	0	2	1	2	0	0	1	2	1	2	1	4	1	5	1	4	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:1456417C>T	ENST00000313486.7	-	3	333	c.78G>A	c.(76-78)gtG>gtA	p.V26V	PITPNA_ENST00000539476.1_Silent_p.V26V	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	26					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TGGCCTCAGCCACAGAATACA	0.512																																						uc021tng.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(76-78)gtG>gtA		Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.							102	104	103					17																	1456417		2053	4201	6254	SO:0001819	synonymous_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1456417C>T	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.78G>A	17.37:g.1456417C>T						PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	p.V26V	NM_006224	NP_006215	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	2	334	-			26						Silent	SNP	ENST00000313486.7	37	c.78G>A	CCDS45563.1																																																																																				0.512	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			T	1456417	C	T	1456417	2	4	45	1	0	0	0	0	0	0	0	1	11947	581	21	3		3	PITPNA	17	1456417	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		1456417	79738793	69	2904											
SLC47A1	55244	broad.mit.edu	37	chr17	19459334	19459334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcatggtggagctgggcGctcagtccatcgtgtatgaa	7	10	15	9	3	1	1	1	1	0	0	4	2	2	2	1	4	1	4	1	4	2	1	rs563267554	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:19459334G>A	ENST00000270570.4	+	10	966	c.880G>A	c.(880-882)Gct>Act	p.A294T	SLC47A1_ENST00000571335.1_Missense_Mutation_p.A99T|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A294T|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.A271T|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000395585.1_Missense_Mutation_p.A294T|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	294					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GGAGCTGGGCGCTCAGTCCAT	0.582													G|||	2	0.000399361	0	0	5008	,	,		18387	0		0	False		,,,				2504	0.002					uc002gvx.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(880-882)Gct>Act		Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.							85	74	78					17																	19459334		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459334G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.880G>A	17.37:g.19459334G>A	ENSP00000270570:p.Ala294Thr					SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	p.A294T	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			9	966	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		294					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.880G>A	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168533	0.94768	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.54	5.54	0.83059	.	0.047729	0.85682	D	0.000000	T	0.69223	0.3087	M	0.77820	2.39	0.80722	D	1	P;D;P;D;D	0.71674	0.945;0.998;0.937;0.995;0.994	P;P;P;D;P	0.64321	0.547;0.899;0.792;0.924;0.837	T	0.72727	-0.4206	10	0.72032	D	0.01	-9.4597	18.4824	0.90817	0.0:0.0:1.0:0.0	.	28;271;28;294;294	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	T	271;294;294;294;28;6	ENSP00000407155:A271T;ENSP00000270570:A294T;ENSP00000415586:A294T;ENSP00000378951:A294T	ENSP00000270570:A294T	A	+	1	0	SLC47A1	19399926	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.953000	0.63624	2.602000	0.87976	0.655000	0.94253	GCT		0.582	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		A	19459334	G	A	19459334	3	1	45	1	0	0	0	0	1	0	0	0	14647	1087	38	1	918	1	SLC47A1	17	19459334	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	18002917	19459334	61735876	70	2905											
KSR1	8844	broad.mit.edu	37	chr17	25909866	25909866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgcccgcctcagactccCccacccccagcttcagtgag	6	7	7	21	1	3	2	2	1	1	1	4	2	4	2	6	0	2	1	6	0	0	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:25909866C>T	ENST00000319524.6	+	4	715	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	KSR1_ENST00000509603.2_Missense_Mutation_p.P239S|KSR1_ENST00000268763.6_Missense_Mutation_p.P102S|KSR1_ENST00000398988.3_Missense_Mutation_p.P102S			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	239					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCAGACTCCCCCACCCCCAG	0.706																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(304-306)Ccc>Tcc		Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.							21	28	25					17																	25909866		2077	4208	6285	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909866C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.715C>T	17.37:g.25909866C>T	ENSP00000323178:p.Pro239Ser					KSR1_uc002gzj.1_Intron	p.P102S	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	749	+	Lung NSC(42;0.00836)		237					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.304C>T		.	.	.	.	.	.	.	.	.	.	C	3.910	-0.020272	0.07634	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00450	7.36;7.36;7.36	5.17	3.16	0.36331	.	0.979293	0.08418	N	0.948763	T	0.00328	0.0010	L	0.31752	0.955	0.09310	N	0.999992	B	0.24258	0.1	B	0.26770	0.073	T	0.44174	-0.9345	10	0.51188	T	0.08	.	6.3721	0.21487	0.0:0.6712:0.1666:0.1621	.	237	Q8IVT5	KSR1_HUMAN	S	239;239;102;102	ENSP00000323178:P239S;ENSP00000438795:P239S;ENSP00000268763:P102S	ENSP00000268763:P102S	P	+	1	0	KSR1	22933993	0.000000	0.05858	0.154000	0.22540	0.032000	0.12392	0.007000	0.13174	0.739000	0.32628	0.455000	0.32223	CCC		0.706	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		T	25909866	C	T	25909866	3	4	45	1	0	0	0	0	1	0	0	0	8581	623	22	3	310	3	KSR1	17	25909866	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	6450532	25909866	55285344	71	2906											
NF1	4763	broad.mit.edu	37	chr17	29654793	29654793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccaagattcggccaaaaGatgtccctgggacactgctc	12	7	9	13	1	0	2	0	0	0	2	3	3	1	3	3	2	1	1	3	2	3	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:29654793G>A	ENST00000358273.4	+	38	5928	c.5545G>A	c.(5545-5547)Gat>Aat	p.D1849N	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.D1828N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1849					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.D1849N(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCGGCCAAAAGATGTCCCTGG	0.468			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	p.0?(8)|p.?(3)|p.D1849N(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5545-5547)Gat>Aat		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							107	108	108					17																	29654793		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654793G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5545G>A	17.37:g.29654793G>A	ENSP00000351015:p.Asp1849Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.3_Missense_Mutation_p.D37N	p.D1849N	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5928	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1849					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5545G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401956	0.96030	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.65549	1.34;-0.16;1.34	5.8	5.8	0.92144	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.79784	0.989;0.987;0.993	D	0.84428	0.0575	10	0.52906	T	0.07	.	19.049	0.93034	0.0:0.0:1.0:0.0	.	878;1828;1849	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	N	1849;1828;1494	ENSP00000351015:D1849N;ENSP00000348498:D1828N;ENSP00000389907:D1494N	ENSP00000348498:D1828N	D	+	1	0	NF1	26678919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.733000	0.93635	0.650000	0.86243	GAT		0.468	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29654793	G	A	29654793	3	1	45	1	0	0	0	0	1	0	0	0	10356	942	33	3	5756	3	NF1	17	29654793	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	3744927	29654793	51540417	72	2907											
CALCOCO2	10241	broad.mit.edu	37	chr17	46937756	46937756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatcaagtacctacttcAgatgaaggaggcgcaagaca	14	7	10	10	2	2	3	2	1	0	2	2	4	2	4	2	2	2	3	2	2	6	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:46937756A>G	ENST00000258947.3	+	11	1190	c.1089A>G	c.(1087-1089)tcA>tcG	p.S363S	CALCOCO2_ENST00000509507.1_Silent_p.S384S|CALCOCO2_ENST00000416445.2_Silent_p.S321S|CALCOCO2_ENST00000448105.2_Silent_p.S387S|CALCOCO2_ENST00000508679.1_Silent_p.S291S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	363					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TACCTACTTCAGATGAAGGAG	0.438																																						uc010wlr.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(1159-1161)tcA>tcG		Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.							125	120	122					17																	46937756		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46937756A>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1089A>G	17.37:g.46937756A>G						CALCOCO2_uc010wlq.2_Silent_p.S291S|CALCOCO2_uc010wls.2_Silent_p.S321S|CALCOCO2_uc002iof.3_Silent_p.S363S|CALCOCO2_uc010wlp.2_Silent_p.S384S	p.S387S	NM_005831	NP_005822	Q13137	CACO2_HUMAN			11	1240	+			363					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.1161A>G	CCDS11538.1																																																																																				0.438	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		G	46937756	A	G	46937756	2	3	45	1	0	0	0	0	0	0	0	1	2578	175	7	4		4	CALCOCO2	17	46937756	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	17282963	46937756	34257454	73	2908											
ACE	1636	broad.mit.edu	37	chr17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggtctttagtgggcGtacccccccttcccgctaca	4	10	12	15	2	1	0	0	0	1	0	2	0	2	0	4	4	2	2	4	4	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:61560492G>A	ENST00000290866.4	+	9	1469	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.R482H|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000577647.1_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1444-1446)cGt>cAt		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						127	136	133					17																	61560492		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560492G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1445G>A	17.37:g.61560492G>A	ENSP00000290866:p.Arg482His					ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R299H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	p.R482H	NM_000789	NP_000780	P12821	ACE_HUMAN			8	1479	+			482			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1445G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	6.325	0.428020	0.11987	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.33654	1.4;1.4	4.87	-0.844	0.10741	.	0.317473	0.31963	N	0.006785	T	0.22437	0.0541	L	0.49571	1.57	0.09310	N	1	B;B	0.32573	0.011;0.376	B;B	0.11329	0.001;0.006	T	0.10753	-1.0616	10	0.52906	T	0.07	-2.4434	5.7134	0.17946	0.2786:0.0:0.5968:0.1245	.	482;482	P12821-2;P12821	.;ACE_HUMAN	H	482	ENSP00000290866:R482H;ENSP00000397593:R482H	ENSP00000290866:R482H	R	+	2	0	ACE	58914224	0.000000	0.05858	0.021000	0.16686	0.005000	0.04900	0.532000	0.23067	0.027000	0.15297	-0.258000	0.10820	CGT		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61560492	G	A	61560492	3	1	45	1	0	0	0	0	1	0	0	0	136	1145	40	1	1479	1	ACE	17	61560492	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	14622736	61560492	19634718	74	2909											
SLC38A10	124565	broad.mit.edu	37	chr17	79220094	79220094	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcccagggaattcctctgcGaggcgctcctctgggccccc	4	8	12	17	2	2	0	0	0	2	0	4	2	4	1	5	3	2	1	5	3	1	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:79220094G>C	ENST00000374759.3	-	16	3005	c.2622C>G	c.(2620-2622)ctC>ctG	p.L874L		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	874					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATTCCTCTGCGAGGCGCTCCT	0.657																																						uc002jzz.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2620-2622)ctC>ctG		Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.							66	71	69					17																	79220094		1849	4077	5926	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220094G>C	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2622C>G	17.37:g.79220094G>C						SLC38A10_uc002jzy.1_Silent_p.L792L|SLC38A10_uc021uey.1_5'UTR	p.L874L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		15	2997	-	all_neural(118;0.0804)|Melanoma(429;0.242)		874					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.2622C>G	CCDS42397.1																																																																																				0.657	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		C	79220094	G	C	79220094	2	2	45	1	0	0	0	0	0	0	0	1	14602	1045	37	5		5	SLC38A10	17	79220094	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	17659602	79220094	1975116	75	2910											
DLGAP1	9229	broad.mit.edu	37	chr18	3534543	3534543	+	Frame_Shift_Del	DEL	G	G	-																															agattccagagaattttccaGattatcatggaagtccaggt																										TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:3534543delG	ENST00000315677.3	-	10	2723	c.2128delC	c.(2128-2130)ctgfs	p.L710fs	DLGAP1_ENST00000515196.2_Frame_Shift_Del_p.L710fs|DLGAP1_ENST00000584874.1_Frame_Shift_Del_p.L710fs|DLGAP1_ENST00000534970.1_Frame_Shift_Del_p.L394fs|DLGAP1_ENST00000539435.1_Frame_Shift_Del_p.L418fs|DLGAP1_ENST00000400150.3_Frame_Shift_Del_p.L426fs|DLGAP1_ENST00000400149.3_Frame_Shift_Del_p.L400fs|DLGAP1_ENST00000400147.2_Frame_Shift_Del_p.L408fs|DLGAP1_ENST00000581699.1_Frame_Shift_Del_p.L416fs|DLGAP1_ENST00000400145.2_Frame_Shift_Del_p.L408fs|DLGAP1_ENST00000400155.1_Frame_Shift_Del_p.L416fs|DLGAP1_ENST00000581527.1_Frame_Shift_Del_p.L710fs	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	710					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAATTTTCCAGATTATCATGG	0.498																																						uc002kmf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2128-2130)ctgfs		Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.							50	51	50					18																	3534543		2203	4300	6503	SO:0001589	frameshift_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534543delG	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2128delC	18.37:g.3534543delG	ENSP00000316377:p.Leu710fs					DLGAP1_uc010wyz.2_Frame_Shift_Del_p.L710fs|DLGAP1_uc010dkn.3_Frame_Shift_Del_p.L418fs|DLGAP1_uc002kme.2_Frame_Shift_Del_p.L408fs|DLGAP1_uc010wyw.2_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.2_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.2_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.3_Frame_Shift_Del_p.L408fs	p.L710fs	NM_004746	NP_004737	O14490	DLGP1_HUMAN			9	2655	-		Colorectal(8;0.0257)	710					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Frame_Shift_Del	DEL	ENST00000315677.3	37	c.2128delC	CCDS11836.1																																																																																				0.498	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			-	3534543	G	-	3534543	7	5	45	1	0	1	0	1	0	0	0	0	4559	933	33	0	821	0	DLGAP1	18	3534543	Frame_Shift_Del	DEL	G	TCGA-06-0214-01A-02D-1491-08		3534543	74542705	76	2911											
NAPG	8774	broad.mit.edu	37	chr18	10548993	10548993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaatggcagtgaagactGtgctgccctggaacagcttc	9	10	12	10	0	1	2	1	1	0	1	2	3	1	3	1	2	4	4	1	2	3	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:10548993G>A	ENST00000322897.6	+	11	764	c.695G>A	c.(694-696)tGt>tAt	p.C232Y	NAPG_ENST00000542979.1_Missense_Mutation_p.C150Y	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	232					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						AGTGAAGACTGTGCTGCCCTG	0.473																																						uc002kon.3																			0				large_intestine(2)|lung(2)	4						c.(694-696)tGt>tAt		Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.							140	141	140					18																	10548993		2060	4210	6270	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10548993G>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.695G>A	18.37:g.10548993G>A	ENSP00000324628:p.Cys232Tyr					NAPG_uc010wzr.2_Missense_Mutation_p.C150Y|NAPG_uc002kop.3_Missense_Mutation_p.C145Y	p.C232Y	NM_003826	NP_003817	Q99747	SNAG_HUMAN			10	922	+			232					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.695G>A	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	7.253	0.603597	0.14002	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.74842	-0.88;-0.88	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.039843	0.85682	D	0.000000	T	0.67135	0.2861	L	0.50333	1.59	0.80722	D	1	B	0.24092	0.097	B	0.14023	0.01	T	0.64706	-0.6344	10	0.02654	T	1	-6.6117	19.7244	0.96157	0.0:0.0:1.0:0.0	.	232	Q99747	SNAG_HUMAN	Y	232;150	ENSP00000324628:C232Y;ENSP00000442849:C150Y	ENSP00000324628:C232Y	C	+	2	0	NAPG	10538993	1.000000	0.71417	0.980000	0.43619	0.183000	0.23260	6.185000	0.72013	2.659000	0.90383	0.655000	0.94253	TGT		0.473	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		A	10548993	G	A	10548993	3	1	45	1	0	0	0	0	1	0	0	0	10164	1377	48	3	737	3	NAPG	18	10548993	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	7014450	10548993	67528255	77	2912											
MUC16	94025	broad.mit.edu	37	chr19	9048365	9048365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgataccccaggtgaaacaGttggagttggaacagctgag	12	8	13	8	0	0	3	0	3	0	0	0	5	0	5	2	3	4	3	2	3	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:9048365G>T	ENST00000397910.4	-	5	33469	c.33266C>A	c.(33265-33267)aCt>aAt	p.T11089N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11091	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGAAACAGTTGGAGTTGG	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33265-33267)aCt>aAt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							80	72	74					19																	9048365		1919	4134	6053	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048365G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33266C>A	19.37:g.9048365G>T	ENSP00000381008:p.Thr11089Asn						p.T11089N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	33470	-			11091			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33266C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.952	0.359679	0.11239	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.05	-2.01	0.07410	.	.	.	.	.	T	0.03695	0.0105	L	0.53249	1.67	.	.	.	P	0.45827	0.867	P	0.44477	0.451	T	0.31447	-0.9943	8	0.87932	D	0	.	2.9224	0.05773	0.3642:0.0:0.4393:0.1965	.	11089	B5ME49	.	N	11089	ENSP00000381008:T11089N	ENSP00000381008:T11089N	T	-	2	0	MUC16	8909365	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.252000	0.08806	-0.275000	0.09219	0.431000	0.28591	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9048365	G	T	9048365	3	4	45	1	0	0	0	0	1	0	0	0	9973	1029	36	5	10577	5	MUC16	19	9048365	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		9048365	50080618	78	2913											
NFIX	4784	broad.mit.edu	37	chr19	13201118	13201118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctccccacagcattcGcaacgacaggcgcctcctct	7	7	7	20	3	1	0	0	0	1	0	4	1	3	0	5	1	3	3	5	1	1	1	rs372257657		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:13201118G>A	ENST00000592199.1	+	10	1408	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NFIX_ENST00000587260.1_Silent_p.S419S|NFIX_ENST00000587760.1_Silent_p.S412S|NFIX_ENST00000360105.4_Silent_p.S382S|NFIX_ENST00000397661.2_Silent_p.S420S|NFIX_ENST00000358552.3_Missense_Mutation_p.A428T|NFIX_ENST00000588228.1_Missense_Mutation_p.A423T|NFIX_ENST00000585575.1_Missense_Mutation_p.A462T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	470					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACAGCATTCGCAACGACAGG	0.642																																						uc010xmx.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1432-1434)Gca>Aca		Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.				1,4009		0,1,2004	90	100	97		1260	2.1	1	19		97	0,8312		0,0,4156	no	coding-synonymous	NFIX	NM_002501.2		0,1,6160	AA,AG,GG		0.0,0.0249,0.0081		420/442	13201118	1,12321	2005	4156	6161	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13201118G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1408G>A	19.37:g.13201118G>A	ENSP00000467512:p.Ala470Thr					NFIX_uc002mwd.3_Silent_p.S420S|NFIX_uc002mwe.3_Silent_p.S412S|NFIX_uc002mwf.3_Silent_p.S382S|NFIX_uc002mwg.2_Silent_p.S419S	p.A478T			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		9	1485	+			470					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1432G>A		.	.	.	.	.	.	.	.	.	.	g	13.98	2.398727	0.42512	2.49E-4	0.0	ENSG00000008441	ENST00000397661;ENST00000358552	T	0.47528	0.84	4.37	2.08	0.27032	.	0.414562	0.24314	N	0.039612	T	0.19167	0.0460	.	.	.	0.25315	N	0.989162	B	0.32071	0.355	B	0.29598	0.104	T	0.18681	-1.0329	9	0.07482	T	0.82	.	4.5781	0.12243	0.1285:0.0:0.4218:0.4498	.	478	B4DHW2	.	T	470;428	ENSP00000351354:A428T	ENSP00000351354:A428T	A	+	1	0	NFIX	13062118	0.875000	0.30112	1.000000	0.80357	0.998000	0.95712	-0.075000	0.11431	0.792000	0.33850	0.558000	0.71614	GCA		0.642	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		A	13201118	G	A	13201118	3	1	45	1	0	0	0	0	1	0	0	0	10374	1074	38	1	1294	1	NFIX	19	13201118	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	4152753	13201118	45927865	79	2914											
CCDC105	126402	broad.mit.edu	37	chr19	15132653	15132653	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcacctggagaccgcagaAaagctggacagacccctggt	11	6	12	12	1	1	3	1	0	0	3	1	5	1	4	4	3	1	3	4	3	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:15132653A>G	ENST00000292574.3	+	6	1255	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	391						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGACCGCAGAAAAGCTGGACA	0.647																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1171-1173)gaA>gaG		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							63	71	68					19																	15132653		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132653A>G	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1173A>G	19.37:g.15132653A>G							p.E391E	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			5	1272	+			391					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1173A>G	CCDS12322.1																																																																																				0.647	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		G	15132653	A	G	15132653	2	3	45	1	0	0	0	0	0	0	0	1	2740	11	1	4		4	CCDC105	19	15132653	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	1931535	15132653	43996330	80	2915											
CLPTM1	1209	broad.mit.edu	37	chr19	45494188	45494188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatatcgagtcctcgacCaaagtgtatgatgatgtgag	12	11	11	7	3	0	3	0	3	0	0	3	5	1	3	2	0	0	2	2	0	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45494188C>T	ENST00000337392.5	+	11	1554	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	CLPTM1_ENST00000546079.1_Silent_p.T366T|CLPTM1_ENST00000541297.2_Silent_p.T454T	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	468					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGTCCTCGACCAAAGTGTATG	0.607																																						uc002pai.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1402-1404)acC>acT		Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.							102	81	88					19																	45494188		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494188C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1404C>T	19.37:g.45494188C>T						CLPTM1_uc010xxf.2_Silent_p.T366T|CLPTM1_uc010xxg.2_Silent_p.T454T|CLPTM1_uc021uvo.1_5'Flank	p.T468T	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	10	1458	+		all_neural(266;0.224)|Ovarian(192;0.231)	468					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.1404C>T	CCDS12651.1																																																																																				0.607	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		T	45494188	C	T	45494188	2	4	45	1	0	0	0	0	0	0	0	1	3554	581	21	3		3	CLPTM1	19	45494188	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	30361535	45494188	13634795	81	2916											
ERCC1	2067	broad.mit.edu	37	chr19	45923654	45923654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccaaattcccagggcacaTtgcgcacgaacttcagtacg	11	7	9	14	4	1	0	1	0	0	0	2	1	2	0	2	1	3	3	2	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45923654T>C	ENST00000300853.3	-	4	944	c.353A>G	c.(352-354)aAt>aGt	p.N118S	ERCC1_ENST00000340192.7_Missense_Mutation_p.N118S|ERCC1_ENST00000591636.1_Missense_Mutation_p.N118S|ERCC1_ENST00000013807.5_Missense_Mutation_p.N118S|ERCC1_ENST00000423698.2_Missense_Mutation_p.N46S|ERCC1_ENST00000589165.1_Missense_Mutation_p.N118S	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	118					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGGGCACATTGCGCACGAA	0.597								Nucleotide excision repair (NER)																														uc002pbs.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(352-354)aAt>aGt	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.							110	84	93					19																	45923654		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45923654T>C		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.353A>G	19.37:g.45923654T>C	ENSP00000300853:p.Asn118Ser					ERCC1_uc002pbt.2_Missense_Mutation_p.N118S|ERCC1_uc002pbu.2_Missense_Mutation_p.N46S|ERCC1_uc002pbv.3_Missense_Mutation_p.N118S	p.N118S	NM_001983	NP_001974	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	3	499	-		Ovarian(192;0.051)|all_neural(266;0.112)	118					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.353A>G	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815198	0.32053	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.48201	0.83;0.83;0.84;0.82	5.28	3.15	0.36227	Restriction endonuclease, type II-like (1);	0.149436	0.64402	N	0.000016	T	0.32496	0.0831	L	0.31526	0.94	0.44207	D	0.997039	B;B;B;B	0.16802	0.019;0.001;0.002;0.003	B;B;B;B	0.12837	0.008;0.002;0.003;0.004	T	0.07462	-1.0771	10	0.48119	T	0.1	-17.8635	7.2423	0.26104	0.0:0.1697:0.0:0.8303	.	118;46;118;118	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	S	118;118;46;118	ENSP00000300853:N118S;ENSP00000345203:N118S;ENSP00000394875:N46S;ENSP00000013807:N118S	ENSP00000013807:N118S	N	-	2	0	ERCC1	50615494	0.967000	0.33354	0.614000	0.29051	0.705000	0.40729	1.751000	0.38339	0.318000	0.23185	0.374000	0.22700	AAT		0.597	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		C	45923654	T	C	45923654	3	2	45	1	0	0	0	0	1	0	0	0	5212	1493	52	4	697	4	ERCC1	19	45923654	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	429466	45923654	13205329	82	2917											
PRR12	57479	broad.mit.edu	37	chr19	50099367	50099367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggcaaatacctgagctCagtcttggcctcagcgcctt	7	10	9	15	1	3	1	2	1	1	0	3	1	3	1	4	2	3	2	4	2	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:50099367C>T	ENST00000418929.2	+	4	1787	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACCTGAGCTCAGTCTTGGCC	0.657																																						uc002poo.4																			0		p.G592V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1774-1776)tCa>tTa		Homo sapiens proline rich 12 (PRR12), mRNA.							37	43	41					19																	50099367		2009	4170	6179	SO:0001583	missense	57479						DNA binding	g.chr19:50099367C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1775C>T	19.37:g.50099367C>T	ENSP00000394510:p.Ser592Leu						p.S592L	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	3	1775	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	356			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1775C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274117	0.23221	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	T	0.71576	0.3356	.	.	.	0.34676	D	0.724214	D	0.58268	0.982	P	0.60345	0.873	T	0.81856	-0.0740	7	0.72032	D	0.01	.	15.2805	0.73781	0.0:1.0:0.0:0.0	.	592	Q9ULL5-3	.	L	592	.	ENSP00000394510:S592L	S	+	2	0	PRR12	54791179	0.992000	0.36948	0.955000	0.39395	0.549000	0.35272	3.473000	0.53122	2.216000	0.71823	0.455000	0.32223	TCA		0.657	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		T	50099367	C	T	50099367	3	4	45	1	0	0	0	0	1	0	0	0	12584	838	29	3	1789	3	PRR12	19	50099367	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	4175713	50099367	9029616	83	2918											
LENG8	114823	broad.mit.edu	37	chr19	54968952	54968952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtcgctgtgcatggtCaagtgccactggaaagagaa	15	7	12	7	1	1	1	1	0	0	1	2	3	1	2	1	2	2	2	1	2	5	0	rs142424676		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:54968952C>A	ENST00000326764.5	+	12	2237	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	549										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTGCATGGTCAAGTGCCACT	0.537																																						uc002qfv.1																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1645-1647)gtC>gtA		Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.							122	117	118					19																	54968952		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54968952C>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1758C>A	19.37:g.54968952C>A						LENG8_uc002qfw.2_Silent_p.V586V	p.V549V			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	10	1791	+	Ovarian(34;0.19)		549					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1647C>A	CCDS12894.1																																																																																				0.537	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		A	54968952	C	A	54968952	2	1	45	1	0	0	0	0	0	0	0	1	8724	813	29	5		5	LENG8	19	54968952	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	4869585	54968952	4160031	84	2919											
ZNF552	79818	broad.mit.edu	37	chr19	58319417	58319417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgcactcataagccCtttcttttgtgaactctctg	8	15	5	13	0	4	1	2	1	2	0	5	1	4	1	1	0	3	1	1	0	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:58319417C>T	ENST00000391701.1	-	3	1384	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCATAAGCCCTTTCTTTTGT	0.398																																						uc002qqg.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1213-1215)aaG>aaA		Homo sapiens zinc finger protein 552 (ZNF552), mRNA.							113	111	112					19																	58319417		2203	4300	6503	SO:0001819	synonymous_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319417C>T	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1215G>A	19.37:g.58319417C>T						ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Silent_p.K401K	p.K405K	NM_024762	NP_079038	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	2	1385	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	405					B3KUE9|Q6P5A6	Silent	SNP	ENST00000391701.1	37	c.1215G>A	CCDS12963.1																																																																																				0.398	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		T	58319417	C	T	58319417	2	4	45	1	0	0	0	0	0	0	0	1	17981	680	24	3		3	ZNF552	19	58319417	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	3350465	58319417	809566	85	2920											
SIRPG	55423	broad.mit.edu	37	chr20	1615912	1615912	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaattttgagtaacctcaCcaggggtagcatctgagctc	13	10	9	9	0	2	2	1	2	1	0	3	2	2	2	2	2	3	4	2	2	4	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:1615912C>T	ENST00000303415.3	-	4	1146		c.e4+1		SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Splice_Site|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGTAACCTCACCAGGGGTAGC	0.428																																						uc002wfm.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.e4+1		Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.							48	47	47					20																	1615912		2203	4300	6503	SO:0001630	splice_region_variant	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1615912C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1081+1G>A	20.37:g.1615912C>T						SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	p.G361_splice	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			4	1146	-			361					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Splice_Site	SNP	ENST00000303415.3	37	c.1081_splice	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	c	5.168	0.216596	0.09810	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	.	.	.	1.6	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.21553	N	0.999644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6421	0.22914	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIRPG	1563912	0.085000	0.21516	0.119000	0.21687	0.050000	0.14768	2.341000	0.43983	1.184000	0.42957	0.195000	0.17529	.		0.428	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	Intron	T	1615912	C	T	1615912	5	4	45	1	0	0	0	0	0	0	1	0	14336	521	18	3	89	3	SIRPG	20	1615912	Splice_Site	SNP	C	TCGA-06-0214-01A-02D-1491-08		1615912	61409608	86	2921											
TSHZ2	128553	broad.mit.edu	37	chr20	51872367	51872367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccccacctcagaagcaCgctctgtctgacatcgccga	9	8	8	16	3	3	2	1	1	2	1	5	3	4	2	4	0	1	2	4	0	1	0	rs138612067		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:51872367C>T	ENST00000371497.5	+	2	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.H787H|TSHZ2_ENST00000329613.6_Silent_p.H787H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	790					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H790H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGCACGCTCTGTCTG	0.557																																						uc002xwo.3																			1	Substitution - coding silent(1)	p.H790H(2)	endometrium(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2368-2370)caC>caT		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	111	103	106		2361,2370	-3.5	1	20	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	787/1032,790/1035	51872367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872367C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2370C>T	20.37:g.51872367C>T						TSHZ2_uc021wex.1_Silent_p.H787H	p.H790H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	3257	+			790					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2370C>T	CCDS33490.1																																																																																				0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51872367	C	T	51872367	2	4	45	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51872367	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	50256455	51872367	11153153	87	2922											
ADRM1	11047	broad.mit.edu	37	chr20	60882680	60882680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagtcggcagcggtcaccCcgtcatccaccacctcttcc	6	7	8	20	3	3	0	2	0	1	0	6	0	5	0	7	2	1	1	7	2	0	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:60882680C>T	ENST00000253003.2	+	7	698	c.652C>T	c.(652-654)Ccg>Tcg	p.P218S	LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	218	Ser-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGCGGTCACCCCGTCATCCAC	0.701																																						uc002ycn.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(652-654)Ccg>Tcg		Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.							36	36	36					20																	60882680		2198	4296	6494	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60882680C>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.652C>T	20.37:g.60882680C>T	ENSP00000253003:p.Pro218Ser					ADRM1_uc002yco.3_Missense_Mutation_p.P218S	p.P218S	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		6	732	+	Breast(26;7.76e-09)		218			Ser-rich.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.652C>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472532	0.43942	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.25	5.25	0.73442	.	0.102132	0.64402	D	0.000002	T	0.50548	0.1622	L	0.42245	1.32	0.80722	D	1	P	0.37083	0.581	B	0.36608	0.229	T	0.46176	-0.9210	9	0.22109	T	0.4	-11.3936	16.6322	0.85037	0.0:1.0:0.0:0.0	.	218	Q16186	ADRM1_HUMAN	S	197;218	.	ENSP00000253003:P218S	P	+	1	0	ADRM1	60316075	0.984000	0.35163	0.659000	0.29680	0.434000	0.31775	5.451000	0.66632	2.451000	0.82905	0.561000	0.74099	CCG		0.701	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			T	60882680	C	T	60882680	3	4	45	1	0	0	0	0	1	0	0	0	345	623	22	3	674	3	ADRM1	20	60882680	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	9010313	60882680	2142840	88	2923											
OSBP2	23762	broad.mit.edu	37	chr22	31137177	31137177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatggcccacacgtgccGtggaaccatcaacctgtcca	11	7	9	14	2	1	1	1	1	0	0	2	2	2	2	5	2	3	0	5	2	3	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:31137177G>A	ENST00000332585.6	+	2	778	c.674G>A	c.(673-675)cGt>cAt	p.R225H	OSBP2_ENST00000407373.1_Missense_Mutation_p.R52H|OSBP2_ENST00000382310.3_Missense_Mutation_p.R225H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R60H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R225H	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	225	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CACACGTGCCGTGGAACCATC	0.542																																						uc003aiy.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(673-675)cGt>cAt		Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.							49	50	50					22																	31137177		2019	4165	6184	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31137177G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.674G>A	22.37:g.31137177G>A	ENSP00000332576:p.Arg225His					OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	p.R225H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	778	+			225			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.674G>A	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313447	0.95655	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.76709	-0.66;-0.65;-1.04;-1.04;-1.04	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.993;0.993;1.0;1.0	D	0.89669	0.3882	10	0.42905	T	0.14	-22.2454	18.7346	0.91749	0.0:0.0:1.0:0.0	.	225;60;52;225;225	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	H	60;60;52;225;225;225	ENSP00000384213:R60H;ENSP00000385237:R52H;ENSP00000332576:R225H;ENSP00000371747:R225H;ENSP00000392080:R225H	ENSP00000332576:R225H	R	+	2	0	OSBP2	29467177	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.521000	0.84997	0.462000	0.41574	CGT		0.542	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		A	31137177	G	A	31137177	3	1	45	1	0	0	0	0	1	0	0	0	11274	1145	40	1	680	1	OSBP2	22	31137177	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		31137177	20167389	89	2924											
EP300	2033	broad.mit.edu	37	chr22	41564810	41564810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaattgatggtgttgacCtgtgcttctttggcatgcat	9	15	11	6	0	1	3	0	2	1	1	1	3	1	3	1	2	2	4	1	2	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:41564810C>T	ENST00000263253.7	+	25	5330	c.4111C>T	c.(4111-4113)Ctg>Ttg	p.L1371L	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1371	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGTGTTGACCTGTGCTTCTT	0.478			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													uc003azl.4				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4111-4113)Ctg>Ttg		Homo sapiens E1A binding protein p300 (EP300), mRNA.							222	194	203					22																	41564810		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564810C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4111C>T	22.37:g.41564810C>T							p.L1371L	NM_001429	NP_001420	Q09472	EP300_HUMAN			24	4506	+			1371					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.4111C>T	CCDS14010.1																																																																																				0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		T	41564810	C	T	41564810	2	4	45	1	0	0	0	0	0	0	0	1	5148	680	24	3		3	EP300	22	41564810	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	10427633	41564810	9739756	90	2925											
APITD1	1325	broad.mit.edu	37	chr1	10511616	10511616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggacagaatgccctgcagGaacttcttctggaagacctt	10	9	11	11	1	2	2	0	0	2	2	2	5	2	5	2	3	3	1	2	3	3	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:10511616G>T	ENST00000377049.3	+	2	787	c.282G>T	c.(280-282)agG>agT	p.R94S	APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.R153S|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000602787.1_Missense_Mutation_p.R153S|APITD1-CORT_ENST00000470413.2_3'UTR|CORT_ENST00000320498.4_Missense_Mutation_p.R144S	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	94					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		TGCCCTGCAGGAACTTCTTCT	0.567																																						uc001arf.3																			0											c.(457-459)agG>agT		Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA.							16	20	19					1																	10511616		2203	4299	6502	SO:0001583	missense	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10511616G>T	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.282G>T	1.37:g.10511616G>T	ENSP00000366248:p.Arg94Ser					APITD1-CORT_uc021ogd.1_3'UTR|APITD1-CORT_uc021ogf.1_Missense_Mutation_p.R132S|APITD1-CORT_uc021ogg.1_Non-coding_Transcript|APITD1-CORT_uc001ari.3_Missense_Mutation_p.R144S	p.R153S	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN			4	875	+			0					Q5T6G0|Q6UX11	Missense_Mutation	SNP	ENST00000377049.3	37	c.459G>T	CCDS117.2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714620	0.48622	.	.	ENSG00000175279;ENSG00000251503;ENSG00000241563;ENSG00000241563	ENST00000556104;ENST00000400900;ENST00000377049;ENST00000320498	.	.	.	5.68	2.77	0.32553	Somatostatin/Cortistatin, C-terminal (1);	0.402258	0.21055	N	0.080929	T	0.18257	0.0438	N	0.08118	0	0.22926	N	0.998551	B;B	0.23128	0.08;0.013	B;B	0.26202	0.067;0.037	T	0.18335	-1.0340	9	0.87932	D	0	-7.0951	5.7918	0.18365	0.162:0.0:0.6821:0.1559	.	94;153	O00230;Q8N2Z9-2	CORT_HUMAN;.	S	153;153;94;144	.	ENSP00000383692:R153S	R	+	3	2	APITD1-CORT;APITD1;CORT	10434203	1.000000	0.71417	0.524000	0.27887	0.817000	0.46193	1.041000	0.30291	0.327000	0.23409	0.655000	0.94253	AGG		0.567	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		T	10511616	G	T	10511616	3	4	46	1	0	0	0	0	1	0	0	0	775	1165	41	5	622	5	APITD1	1	10511616	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		10511616	238739005	1	2926											
RSPO1	284654	broad.mit.edu	37	chr1	38082340	38082340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggcctggctcccctcGgcactgactgcaaaggtgga	8	6	13	14	1	0	1	0	1	0	0	2	2	1	2	3	5	1	4	3	5	1	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:38082340G>A	ENST00000401069.1	-	4	814	c.102C>T	c.(100-102)gcC>gcT	p.A34A	RSPO1_ENST00000401070.1_Silent_p.A34A|RSPO1_ENST00000356545.2_Silent_p.A34A|RSPO1_ENST00000373059.1_Silent_p.A7A|RSPO1_ENST00000401068.1_Silent_p.A34A|RSPO1_ENST00000401071.2_Silent_p.A34A	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	34					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTCGGCACTGACTG	0.557																																					GBM(122;680 2230 27822 42821)	uc001cbl.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(100-102)gcC>gcT		Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.							53	54	54					1																	38082340		2021	4176	6197	SO:0001819	synonymous_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082340G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.102C>T	1.37:g.38082340G>A						RSPO1_uc009vvf.2_Silent_p.A7A|RSPO1_uc001cbm.2_Silent_p.A34A|RSPO1_uc009vvg.2_Silent_p.A34A	p.A34A	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN			4	994	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	34					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	c.102C>T	CCDS41304.1																																																																																				0.557	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		A	38082340	G	A	38082340	2	1	46	1	0	0	0	0	0	0	0	1	13709	1103	39	2		2	RSPO1	1	38082340	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	27570724	38082340	211168281	2	2927											
RPL5	6125	broad.mit.edu	37	chr1	93301897	93301898	+	Frame_Shift_Ins	INS	-	-	T																															aactaccactggcaataaagINStttttggtgccctgaaggga																										TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:93301897_93301898insT	ENST00000370321.3	+	5	565_566	c.475_476insT	c.(475-477)gttfs	p.V159fs	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	159					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCAATAAAGTTTTTGGTGCC	0.495																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(475-477)gttfs		Homo sapiens ribosomal protein L5 (RPL5), mRNA.																																				SO:0001589	frameshift_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301897_93301898insT	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.480dupT	1.37:g.93301902_93301902dupT	ENSP00000359345:p.Val159fs					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.3_5'UTR|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	p.V159fs	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	553_554	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	159					Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Ins	INS	ENST00000370321.3	37	c.475_476insT	CCDS741.1																																																																																				0.495	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		T	93301898	-	T	93301897	7	5	46	1	0	1	1	0	0	0	0	0	13597	1029	36	0	493	0	RPL5	1	93301897	Frame_Shift_Ins	INS	-	TCGA-06-0216-01B-01D-1492-08	55219557	93301897	155948724	3	2928											
HIPK1	204851	broad.mit.edu	37	chr1	114515777	114515777	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcagcccgctacactcGacagggcacccacaccttgc	9	5	9	18	2	0	0	0	0	0	0	1	1	0	0	3	2	3	3	3	2	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:114515777G>T	ENST00000369558.1	+	16	3508	c.3276G>T	c.(3274-3276)tcG>tcT	p.S1092S	HIPK1_ENST00000340480.4_Silent_p.S718S|HIPK1_ENST00000369555.2_Silent_p.S1047S|HIPK1_ENST00000369553.1_Silent_p.S698S|HIPK1_ENST00000406344.1_Silent_p.S698S|HIPK1_ENST00000369561.4_Silent_p.S1058S|HIPK1_ENST00000426820.2_Silent_p.S1092S|HIPK1_ENST00000369554.2_Silent_p.S1047S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1092	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTACACTCGACAGGGCACC	0.647																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3274-3276)tcG>tcT		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							99	103	102					1																	114515777		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515777G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3276G>T	1.37:g.114515777G>T						HIPK1_uc001een.3_Silent_p.S1092S|HIPK1_uc001eeo.3_Silent_p.S718S|HIPK1_uc001eep.3_Silent_p.S698S|HIPK1_uc001eeq.3_Silent_p.S384S	p.S1092S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	3437	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1092			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.3276G>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	5.251	0.231720	0.09969	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.29	-0.142	0.13448	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	.	0.9584	0.01390	0.3563:0.151:0.3373:0.1554	.	.	.	.	Y	373	.	.	D	+	1	0	HIPK1	114317300	0.567000	0.26626	0.995000	0.50966	0.934000	0.57294	-0.563000	0.05943	0.089000	0.17243	-0.794000	0.03295	GAC		0.647	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		T	114515777	G	T	114515777	2	4	46	1	0	0	0	0	0	0	0	1	7116	1045	37	5		5	HIPK1	1	114515777	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	21213880	114515777	134734844	4	2929											
CD2	914	broad.mit.edu	37	chr1	117311264	117311264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggacaccgtgttcaGcaccagcctcagaagaggcc	9	6	10	16	1	2	2	2	0	0	2	3	3	3	3	6	2	2	2	6	2	1	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:117311264G>A	ENST00000369478.3	+	5	1023	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	305	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCGTGTTCAGCACCAGCCTC	0.622																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.4																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(913-915)caG>caA		Homo sapiens CD2 molecule (CD2), mRNA.	Alefacept(DB00092)						90	78	82					1																	117311264		2203	4300	6503	SO:0001819	synonymous_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117311264G>A	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.915G>A	1.37:g.117311264G>A							p.Q305Q	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	4	944	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	305			Pro-rich.		Q96TE5	Silent	SNP	ENST00000369478.3	37	c.915G>A	CCDS889.1																																																																																				0.622	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		A	117311264	G	A	117311264	2	1	46	1	0	0	0	0	0	0	0	1	2979	962	34	3		3	CD2	1	117311264	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	2795487	117311264	131939357	5	2930											
TCHH	7062	broad.mit.edu	37	chr1	152084995	152084995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaacactctgtcttgcCgctctcgcctttgctgctgt	3	14	9	15	2	3	0	0	0	3	0	4	1	3	1	3	1	4	3	3	1	1	2	rs370869272		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:152084995C>T	ENST00000368804.1	-	2	697	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	233					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCTTGCCGCTCTCGCCT	0.577																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(697-699)cGg>cAg		Homo sapiens trichohyalin (TCHH), mRNA.							98	110	106					1																	152084995		2061	4194	6255	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084995C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.698G>A	1.37:g.152084995C>T	ENSP00000357794:p.Arg233Gln					TCHH_uc001ezp.2_Missense_Mutation_p.R233Q	p.R233Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	970	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		233					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.698G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	9.555	1.116982	0.20795	.	.	ENSG00000159450	ENST00000368804	T	0.04502	3.61	3.5	-7.01	0.01594	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.31209	0.313	B	0.15052	0.012	T	0.44967	-0.9293	9	0.13108	T	0.6	.	6.881	0.24173	0.575:0.1155:0.0:0.3095	.	233	Q07283	TRHY_HUMAN	Q	233	ENSP00000357794:R233Q	ENSP00000357794:R233Q	R	-	2	0	TCHH	150351619	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.289000	0.02780	-2.545000	0.00483	-0.887000	0.02937	CGG		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152084995	C	T	152084995	3	4	46	1	0	0	0	0	1	0	0	0	15697	652	23	2	5137	2	TCHH	1	152084995	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	34773731	152084995	97165626	6	2931											
PAPPA2	60676	broad.mit.edu	37	chr1	176526161	176526161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacacagggtcaaaaagagtCcaccggaggaaagcaaccaa	19	2	10	10	1	1	1	1	0	0	1	2	3	2	3	3	3	3	1	3	3	6	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:176526161C>A	ENST00000367662.3	+	2	1867	c.703C>A	c.(703-705)Cca>Aca	p.P235T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P235T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	235					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAAAAGAGTCCACCGGAGGA	0.527																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(703-705)Cca>Aca		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							83	84	84					1																	176526161		1950	4151	6101	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526161C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.703C>A	1.37:g.176526161C>A	ENSP00000356634:p.Pro235Thr					PAPPA2_uc001gky.1_Missense_Mutation_p.P235T|PAPPA2_uc009www.3_Non-coding_Transcript	p.P235T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			1	1867	+			235					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.703C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	6.021	0.372347	0.11409	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.31247	4.79;1.5	3.28	-1.56	0.08532	Concanavalin A-like lectin/glucanase (1);	1.307500	0.05974	U	0.642858	T	0.24624	0.0597	L	0.60455	1.87	0.09310	N	1	B;B	0.30068	0.164;0.267	B;B	0.25291	0.041;0.059	T	0.20806	-1.0264	10	0.21540	T	0.41	.	4.6078	0.12387	0.0:0.4326:0.3423:0.2251	.	235;235	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	T	235	ENSP00000356634:P235T;ENSP00000356633:P235T	ENSP00000356633:P235T	P	+	1	0	PAPPA2	174792784	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	0.049000	0.14099	-0.434000	0.07275	0.313000	0.20887	CCA		0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176526161	C	A	176526161	3	1	46	1	0	0	0	0	1	0	0	0	11433	855	30	5	705	5	PAPPA2	1	176526161	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	24441166	176526161	72724460	7	2932											
OR11L1	391189	broad.mit.edu	37	chr1	248004304	248004304	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacctttctaacagcttCtttgaagtctttgttcctca	8	17	5	11	0	4	2	1	2	3	0	5	2	5	2	2	0	2	2	2	0	2	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:248004304C>A	ENST00000355784.2	-	1	950	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	299						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAACAGCTTCTTTGAAGTCT	0.393																																						uc001idn.1																			0		p.E299V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(895-897)Gaa>Taa		Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.							89	85	86					1																	248004304		2203	4300	6503	SO:0001587	stop_gained	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004304C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.895G>T	1.37:g.248004304C>A	ENSP00000348033:p.Glu299*						p.E299*	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		0	895	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		299						Nonsense_Mutation	SNP	ENST00000355784.2	37	c.895G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141481	0.57044	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.15	4.15	0.48705	.	1.908110	0.04053	U	0.305056	.	.	.	.	.	.	0.46849	D	0.999221	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	11.2807	0.49192	0.0:0.9089:0.0:0.0911	.	.	.	.	X	299	.	ENSP00000348033:E299X	E	-	1	0	OR11L1	246070927	0.000000	0.05858	0.074000	0.20217	0.627000	0.37826	0.672000	0.25187	2.314000	0.78098	0.543000	0.68304	GAA		0.393	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		A	248004304	C	A	248004304	4	1	46	1	0	0	0	0	0	1	0	0	10930	922	32	5	77	5	OR11L1	1	248004304	Nonsense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	71478143	248004304	1246317	8	2933											
SMEK2	57223	broad.mit.edu	37	chr2	55791468	55791468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttttagtctccataaaCttttcataattatctggaaa	12	18	3	8	0	3	0	1	0	2	0	4	1	3	1	2	1	1	0	2	1	6	8	rs145292231		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:55791468C>T	ENST00000345102.5	-	15	2542	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	SMEK2_ENST00000407823.3_Silent_p.K715K|SMEK2_ENST00000272313.5_Silent_p.K662K|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	747					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCCATAAACTTTTCATAAT	0.333																																						uc002rzc.3																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(2239-2241)aaG>aaA		Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.							106	103	104					2																	55791468		2202	4299	6501	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55791468C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.2241G>A	2.37:g.55791468C>T						SMEK2_uc002rzb.3_Silent_p.K662K|SMEK2_uc002rzd.3_Silent_p.K715K|SMEK2_uc002ryz.3_Silent_p.K174K|SMEK2_uc002rza.3_Silent_p.K531K	p.K747K	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		14	2933	-			747					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.2241G>A	CCDS46289.1																																																																																				0.333	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		T	55791468	C	T	55791468	2	4	46	1	0	0	0	0	0	0	0	1	14794	564	20	3		3	SMEK2	2	55791468	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		55791468	187407905	9	2934											
TTN	7273	broad.mit.edu	37	chr2	179594120	179594120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacttggttatatggaggtTaaacacagacactctgtcgg	12	11	10	8	1	1	1	0	0	1	1	2	2	1	2	0	4	1	2	0	4	4	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:179594120T>A	ENST00000591111.1	-	62	18036	c.17812A>T	c.(17812-17814)Aac>Tac	p.N5938Y	TTN_ENST00000589042.1_Missense_Mutation_p.N6255Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N5011Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12733	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGGAGGTTAAACACAGAC	0.463																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15031-15033)Aac>Tac		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							141	135	137					2																	179594120		1936	4138	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594120T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17812A>T	2.37:g.179594120T>A	ENSP00000465570:p.Asn5938Tyr					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1672Y	p.N5011Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	15256	-			5938			Ig-like 30.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15031A>T		.	.	.	.	.	.	.	.	.	.	T	8.370	0.834999	0.16820	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.92	2.12	0.27331	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42291	0.1196	N	0.13327	0.33	0.43703	D	0.996165	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	9	0.87932	D	0	.	1.0388	0.01554	0.2613:0.1316:0.1289:0.4783	.	5938	Q8WZ42	TITIN_HUMAN	Y	5011	ENSP00000343764:N5011Y	ENSP00000343764:N5011Y	N	-	1	0	TTN	179302365	0.913000	0.31002	0.457000	0.27056	0.813000	0.45954	0.980000	0.29513	0.111000	0.17947	0.533000	0.62120	AAC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179594120	T	A	179594120	3	1	46	1	0	0	0	0	1	0	0	0	16732	1754	61	5	85962	5	TTN	2	179594120	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	123802652	179594120	63605253	10	2935											
INPP5D	3635	broad.mit.edu	37	chr2	233944058	233944058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcaggtatcggaattgcGtttacacttacagaattctg	11	15	8	7	2	2	1	1	0	1	1	3	2	2	2	0	2	3	2	0	2	5	7			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:233944058G>A	ENST00000359570.5	+	2	148	c.148G>A	c.(148-150)Gtt>Att	p.V50I	INPP5D_ENST00000538935.1_Missense_Mutation_p.V50I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	50	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCGGAATTGCGTTTACACTTA	0.403																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.2																			0				central_nervous_system(1)|ovary(1)	2						c.(148-150)Gtt>Att		Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.							85	82	83					2																	233944058		1853	4112	5965	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233944058G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.148G>A	2.37:g.233944058G>A	ENSP00000352575:p.Val50Ile					INPP5D_uc010zmp.2_Missense_Mutation_p.V50I	p.V50I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	1	301	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	50			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	G	17.20	3.330138	0.60743	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	6.04	6.04	0.98038	SH2 motif (4);	0.114051	0.64402	D	0.000016	D	0.95149	0.8428	.	.	.	0.28358	N	0.920573	D;D	0.69078	0.997;0.997	D;D	0.76071	0.978;0.987	D	0.91119	0.4928	9	0.87932	D	0	.	16.1438	0.81548	0.0:0.0:1.0:0.0	.	50;50	Q92835-2;Q92835	.;SHIP1_HUMAN	I	50	ENSP00000409018:V50I;ENSP00000415253:V50I;ENSP00000352575:V50I;ENSP00000441010:V50I	ENSP00000352575:V50I	V	+	1	0	INPP5D	233652302	0.999000	0.42202	0.383000	0.26132	0.410000	0.31052	5.095000	0.64529	2.890000	0.99128	0.650000	0.86243	GTT		0.403	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		A	233944058	G	A	233944058	3	1	46	1	0	0	0	0	1	0	0	0	7756	1145	40	1	154	1	INPP5D	2	233944058	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	54349938	233944058	9255315	11	2936											
LRRC3B	116135	broad.mit.edu	37	chr3	26751911	26751911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcaggcagaagaaagcaGatgaacctgatgatattagc	17	6	11	7	0	0	6	0	3	0	3	0	6	0	6	1	1	4	3	1	1	6	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:26751911G>A	ENST00000396641.2	+	2	1340	c.748G>A	c.(748-750)Gat>Aat	p.D250N	LRRC3B_ENST00000456208.2_Missense_Mutation_p.D250N|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.D250N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	250						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAAGAAAGCAGATGAACCTGA	0.418																																						uc003cdp.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(748-750)Gat>Aat		Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.							71	68	69					3																	26751911		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751911G>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.748G>A	3.37:g.26751911G>A	ENSP00000379880:p.Asp250Asn					LRRC3B_uc003cdq.3_Missense_Mutation_p.D250N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D250N	p.D250N	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN			1	1337	+			250					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.748G>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802296	0.70682	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.59638	0.25;0.25;0.25	6.04	6.04	0.98038	.	0.098719	0.64402	D	0.000002	T	0.53190	0.1781	L	0.38175	1.15	0.80722	D	1	P	0.44478	0.836	B	0.40285	0.325	T	0.57573	-0.7788	10	0.72032	D	0.01	-19.0364	19.583	0.95478	0.0:0.0:1.0:0.0	.	250	Q96PB8	LRC3B_HUMAN	N	250	ENSP00000379880:D250N;ENSP00000406370:D250N;ENSP00000394940:D250N	ENSP00000379880:D250N	D	+	1	0	LRRC3B	26726915	1.000000	0.71417	0.570000	0.28473	0.993000	0.82548	8.007000	0.88571	2.873000	0.98535	0.563000	0.77884	GAT		0.418	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		A	26751911	G	A	26751911	3	1	46	1	0	0	0	0	1	0	0	0	8996	942	33	3	750	3	LRRC3B	3	26751911	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		26751911	171270519	12	2937											
AZI2	64343	broad.mit.edu	37	chr3	28381958	28381958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgaatccttaagtcGttttttgatgtcttcatatg	7	21	6	7	1	3	2	1	2	2	0	6	2	4	2	1	0	0	1	1	0	3	7			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:28381958G>A	ENST00000479665.1	-	2	682	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Nonsense_Mutation_p.R51*|AZI2_ENST00000334100.6_Nonsense_Mutation_p.R51*|AZI2_ENST00000457172.1_Nonsense_Mutation_p.R51*	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	51	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCTTAAGTCGTTTTTTGATG	0.338																																						uc003ceb.3																			0		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(151-153)Cga>Tga		Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.							80	79	79					3																	28381958		2202	4299	6501	SO:0001587	stop_gained	64343					mitochondrion|plasma membrane		g.chr3:28381958G>A	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.151C>T	3.37:g.28381958G>A	ENSP00000419371:p.Arg51*					AZI2_uc003cec.3_5'UTR|AZI2_uc003cee.4_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*	p.R51*	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			1	683	-			51					A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Nonsense_Mutation	SNP	ENST00000479665.1	37	c.151C>T	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	G	37	6.353925	0.97498	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	5.62	3.58	0.41010	.	0.052456	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2927	15.8244	0.78686	0.0:0.0:0.7344:0.2656	.	.	.	.	X	51	.	ENSP00000335609:R51X	R	-	1	2	AZI2	28356962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.960000	0.40422	1.304000	0.44892	0.650000	0.86243	CGA		0.338	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		A	28381958	G	A	28381958	4	1	46	1	0	0	0	0	0	1	0	0	1241	1153	40	1	1144	1	AZI2	3	28381958	Nonsense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1630047	28381958	169640472	13	2938											
IMPG2	50939	broad.mit.edu	37	chr3	100951684	100951684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcattcaagcagaagtcAggctgtaggtcacagagact	13	8	10	10	0	4	2	4	0	0	2	4	3	4	2	1	2	1	3	1	2	3	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:100951684A>G	ENST00000193391.7	-	15	3361	c.3174T>C	c.(3172-3174)ccT>ccC	p.P1058P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1058	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGCAGAAGTCAGGCTGTAGGT	0.488																																						uc003duq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3172-3174)ccT>ccC		Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.							99	85	90					3																	100951684		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100951684A>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3174T>C	3.37:g.100951684A>G						IMPG2_uc011bhe.2_Silent_p.P921P|IMPG2_uc010hpj.1_Non-coding_Transcript	p.P1058P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			14	3377	-			1058			EGF-like 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.3174T>C	CCDS2940.1																																																																																				0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			G	100951684	A	G	100951684	2	3	46	1	0	0	0	0	0	0	0	1	7729	175	7	4		4	IMPG2	3	100951684	Silent	SNP	A	TCGA-06-0216-01B-01D-1492-08	72569726	100951684	97070746	14	2939											
DZIP3	9666	broad.mit.edu	37	chr3	108353719	108353719	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttttatttttttccaggGattttttcagttaatgtgca	8	22	6	5	0	1	0	1	0	0	0	2	1	2	1	1	1	2	2	1	1	3	10			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:108353719G>T	ENST00000361582.3	+	10	1048	c.818G>T	c.(817-819)gGa>gTa	p.G273V	DZIP3_ENST00000463306.1_Splice_Site_p.G273V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254																																						uc003dxd.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.e10-1		Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.							65	67	67					3																	108353719		2198	4295	6493	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353719G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>T	3.37:g.108353719G>T						DZIP3_uc003dxf.1_Splice_Site_p.G273_splice|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Splice_Site_p.G273_splice|DZIP3_uc003dxg.1_Splice_Site	p.G273_splice	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			10	1239	+			273					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.817_splice	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	18.96	3.732770	0.69189	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.46451	0.87;0.87;0.87	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.40791	0.1131	N	0.19112	0.55	0.58432	D	0.999999	P	0.48998	0.918	P	0.52189	0.692	T	0.37798	-0.9690	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	V	273	ENSP00000355028:G273V;ENSP00000418115:G273V;ENSP00000419981:G273V	ENSP00000355028:G273V	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA		0.254	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Missense_Mutation	T	108353719	G	T	108353719	5	4	46	1	0	0	0	0	0	0	1	0	4865	1188	41	5	852	5	DZIP3	3	108353719	Splice_Site	SNP	G	TCGA-06-0216-01B-01D-1492-08	7402035	108353719	89668711	15	2940											
COL6A5	256076	broad.mit.edu	37	chr3	130159044	130159044	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgcttgcattcgagaggcTttcttacctgaagattcata	11	14	8	8	1	2	3	1	1	1	2	3	4	2	3	1	1	3	3	1	1	4	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:130159044T>C	ENST00000432398.2	+	35	6356	c.5862T>C	c.(5860-5862)gcT>gcC	p.A1954A	COL6A5_ENST00000265379.6_Silent_p.A1954A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1954	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCGAGAGGCTTTCTTACCTG	0.403																																						uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(5860-5862)gcT>gcC		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.							77	70	72					3																	130159044		1877	4103	5980	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130159044T>C	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5862T>C	3.37:g.130159044T>C						COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_5'UTR|COL6A5_uc010htk.1_5'UTR	p.A1954A	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			34	6356	+			1954			Nonhelical region.|VWFA 8.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.5862T>C		.	.	.	.	.	.	.	.	.	.	T	2.350	-0.349145	0.05173	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.63	0.284	0.15701	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21008	-1.0258	4	.	.	.	.	0.2604	0.00217	0.3076:0.175:0.1438:0.3736	.	.	.	.	L	206	.	.	F	+	1	0	COL6A5	131641734	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	-1.665000	0.01965	0.400000	0.25396	0.460000	0.39030	TTT		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		C	130159044	T	C	130159044	2	2	46	1	0	0	0	0	0	0	0	1	3702	1596	56	4		4	COL6A5	3	130159044	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08	21805325	130159044	67863386	16	2941											
CEP70	80321	broad.mit.edu	37	chr3	138289888	138289888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcacctaagctgttgaTtagtttctataagctcctgt	8	18	6	9	0	2	1	1	1	2	0	4	1	3	1	2	0	2	4	2	0	4	7			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:138289888T>C	ENST00000264982.3	-	5	538	c.272A>G	c.(271-273)aAt>aGt	p.N91S	CEP70_ENST00000464035.1_Missense_Mutation_p.N91S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.N91S|CEP70_ENST00000542237.1_Missense_Mutation_p.N71S|CEP70_ENST00000484888.1_Missense_Mutation_p.N91S|CEP70_ENST00000489254.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	91					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AAGCTGTTGATTAGTTTCTAT	0.318																																						uc003esl.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(271-273)aAt>aGt		Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.							89	88	88					3																	138289888		2203	4296	6499	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138289888T>C	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.272A>G	3.37:g.138289888T>C	ENSP00000264982:p.Asn91Ser					CEP70_uc011bmk.2_Missense_Mutation_p.N71S|CEP70_uc011bml.2_Missense_Mutation_p.N73S|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.N91S|CEP70_uc003esn.3_Missense_Mutation_p.N91S	p.N91S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			4	470	-			91					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.272A>G	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656123	0.47467	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.57436	1.02;1.03;1.02;1.03;0.98;0.41;0.4;0.43	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.65498	2.005	0.41894	D	0.99038	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.83275	0.99;0.996;0.994	T	0.70938	-0.4736	10	0.56958	D	0.05	-23.8421	11.1119	0.48237	0.0:0.0:0.0:1.0	.	71;91;91	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	S	91;71;91;73;91;70;71;91;91	ENSP00000264982:N91S;ENSP00000444128:N71S;ENSP00000419231:N91S;ENSP00000419833:N73S;ENSP00000417465:N91S;ENSP00000418131:N70S;ENSP00000417819:N71S;ENSP00000419743:N91S	ENSP00000264982:N91S	N	-	2	0	CEP70	139772578	1.000000	0.71417	0.944000	0.38274	0.245000	0.25701	4.335000	0.59298	2.114000	0.64651	0.533000	0.62120	AAT		0.318	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		C	138289888	T	C	138289888	3	2	46	1	0	0	0	0	1	0	0	0	3259	1493	52	4	1577	4	CEP70	3	138289888	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	8130844	138289888	59732542	17	2942											
PHC3	80012	broad.mit.edu	37	chr3	169840418	169840418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcaaatcttctcctctccCcactgttatagctgctggag	8	13	7	13	0	4	0	1	0	3	0	6	1	4	1	3	1	2	3	3	1	3	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:169840418C>T	ENST00000494943.1	-	9	1935	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	PHC3_ENST00000467570.1_Missense_Mutation_p.G582R|PHC3_ENST00000495893.2_Missense_Mutation_p.G635R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	623	Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCTCCTCTCCCCACTGTTATA	0.393																																						uc003fgl.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(1903-1905)Ggg>Agg		Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.							120	116	117					3																	169840418		1875	4114	5989	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169840418C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1867G>A	3.37:g.169840418C>T	ENSP00000420271:p.Gly623Arg					PHC3_uc010hws.1_Missense_Mutation_p.G623R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R	p.G635R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1937	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		623			Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1903G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.173078|2.173078	0.38413|0.38413	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000486042|ENST00000494943;ENST00000495893;ENST00000467570	.|T;T	.|0.29917	.|1.56;1.55	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.078909|0.078909	0.53938|0.53938	D|D	0.000045|0.000045	T|T	0.40743|0.40743	0.1129|0.1129	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.994;0.996	.|D;P;P	.|0.65573	.|0.936;0.755;0.876	T|T	0.03443|0.03443	-1.1036|-1.1036	6|10	.|0.17369	.|T	.|0.5	-10.2153|-10.2153	13.0629|13.0629	0.59018|0.59018	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|582;623;635	.|E7EX82;Q8NDX5;Q8NDX5-7	.|.;PHC3_HUMAN;.	E|R	96|623;635;582	.|ENSP00000420271:G623R;ENSP00000420294:G635R	.|ENSP00000419089:G582R	G|G	-|-	2|1	0|0	PHC3|PHC3	171323112|171323112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	3.110000|3.110000	0.50352|0.50352	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.393	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		T	169840418	C	T	169840418	3	4	46	1	0	0	0	0	1	0	0	0	11818	623	22	3	1112	3	PHC3	3	169840418	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	31550530	169840418	28182012	18	2943											
FNDC3B	64778	broad.mit.edu	37	chr3	172096143	172096143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctactccttcagaatccAggcagcaagcgaggctggag	11	7	12	11	1	1	1	1	0	0	1	3	3	3	2	2	3	4	4	2	3	3	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:172096143A>G	ENST00000336824.4	+	24	3191	c.3092A>G	c.(3091-3093)cAg>cGg	p.Q1031R	FNDC3B_ENST00000416957.1_Missense_Mutation_p.Q1031R|FNDC3B_ENST00000415807.2_Missense_Mutation_p.Q1031R	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1031	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCAGAATCCAGGCAGCAAGC	0.493																																						uc003fhy.3																			0		p.Q1031H(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3091-3093)cAg>cGg		Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.							90	88	88					3																	172096143		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096143A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3092A>G	3.37:g.172096143A>G	ENSP00000338523:p.Gln1031Arg					FNDC3B_uc003fhz.4_Missense_Mutation_p.Q1031R	p.Q1031R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	23	3264	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1031			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3092A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.760261	0.89932	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57907	0.37;0.37;0.37	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049396	0.85682	D	0.000000	T	0.59824	0.2222	L	0.46614	1.455	0.80722	D	1	P	0.38048	0.616	P	0.51550	0.673	T	0.55673	-0.8104	10	0.27785	T	0.31	-11.6426	15.1591	0.72767	1.0:0.0:0.0:0.0	.	1031	Q53EP0	FND3B_HUMAN	R	1031	ENSP00000411242:Q1031R;ENSP00000338523:Q1031R;ENSP00000389094:Q1031R	ENSP00000338523:Q1031R	Q	+	2	0	FNDC3B	173578837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.935000	0.92923	1.982000	0.57802	0.533000	0.62120	CAG		0.493	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		G	172096143	A	G	172096143	3	3	46	1	0	0	0	0	1	0	0	0	5970	188	7	4	3182	4	FNDC3B	3	172096143	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	2255725	172096143	25926287	19	2944											
SH3TC1	54436	broad.mit.edu	37	chr4	8229589	8229589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacagccgcaagtgcctgcCccacctggtgctgagctgtg	6	8	12	15	1	0	1	0	1	0	0	0	1	0	1	5	1	6	3	5	1	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:8229589C>T	ENST00000245105.3	+	12	2235	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P647L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	723										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGTGCCTGCCCCACCTGGTG	0.657																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2167-2169)cCc>cTc		Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.							56	56	56					4																	8229589		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8229589C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2168C>T	4.37:g.8229589C>T	ENSP00000245105:p.Pro723Leu					SH3TC1_uc003gkw.4_Missense_Mutation_p.P647L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	p.P723L	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			11	2269	+			723					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2168C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374436	0.61735	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.77750	-1.12;-1.12	4.37	4.37	0.52481	.	0.138137	0.49305	D	0.000154	D	0.87334	0.6151	M	0.75615	2.305	0.53688	D	0.999971	D	0.67145	0.996	D	0.72075	0.976	D	0.88974	0.3403	10	0.59425	D	0.04	-36.625	16.9117	0.86142	0.0:1.0:0.0:0.0	.	723	Q8TE82	S3TC1_HUMAN	L	461;723;647;552	ENSP00000245105:P723L;ENSP00000441045:P647L	ENSP00000245105:P723L	P	+	2	0	SH3TC1	8280489	0.969000	0.33509	1.000000	0.80357	0.675000	0.39556	3.799000	0.55529	1.967000	0.57214	0.462000	0.41574	CCC		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8229589	C	T	8229589	3	4	46	1	0	0	0	0	1	0	0	0	14261	623	22	3	2210	3	SH3TC1	4	8229589	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		8229589	182924687	20	2945											
KIAA1211	57482	broad.mit.edu	37	chr4	57181748	57181748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggaccagttgaggcccGgtgatgagtccactcccagg	9	6	15	11	1	0	4	0	3	0	1	2	5	2	5	4	4	0	1	4	4	0	1	rs376583594		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:57181748G>A	ENST00000504228.1	+	6	2185	c.2080G>A	c.(2080-2082)Ggt>Agt	p.G694S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.G687S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G694S			Q6ZU35	K1211_HUMAN	KIAA1211	694										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTTGAGGCCCGGTGATGAGTC	0.602																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2080-2082)Ggt>Agt		Homo sapiens KIAA1211 (KIAA1211), mRNA.		G	SER/GLY	1,3981		0,1,1990	61	70	67		2080	1.5	0	4		67	0,8320		0,0,4160	no	missense	KIAA1211	NM_020722.1	56	0,1,6150	AA,AG,GG		0.0,0.0251,0.0081	possibly-damaging	694/1234	57181748	1,12301	1991	4160	6151	SO:0001583	missense	57482							g.chr4:57181748G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2080G>A	4.37:g.57181748G>A	ENSP00000423366:p.Gly694Ser					KIAA1211_uc010iha.2_Missense_Mutation_p.G687S|KIAA1211_uc011bzz.1_Missense_Mutation_p.G604S|KIAA1211_uc003hbm.1_Missense_Mutation_p.G580S	p.G694S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			7	2471	+	Glioma(25;0.08)|all_neural(26;0.101)		694					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2080G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285918	0.23478	2.51E-4	0.0	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.01484	4.84;4.84;4.84	4.47	1.55	0.23275	.	.	.	.	.	T	0.01940	0.0061	L	0.37630	1.12	0.09310	N	1	P;P;D	0.55800	0.897;0.897;0.973	B;B;P	0.47075	0.197;0.197;0.536	T	0.42582	-0.9443	9	0.11485	T	0.65	-6.5685	5.2942	0.15743	0.5948:0.0:0.4052:0.0	.	687;687;694	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	694;694;687;604	ENSP00000264229:G694S;ENSP00000423366:G694S;ENSP00000444006:G687S	ENSP00000264229:G694S	G	+	1	0	KIAA1211	56876505	0.388000	0.25197	0.000000	0.03702	0.010000	0.07245	0.997000	0.29731	0.519000	0.28406	0.555000	0.69702	GGT		0.602	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57181748	G	A	57181748	3	1	46	1	0	0	0	0	1	0	0	0	8215	1116	39	2	2098	2	KIAA1211	4	57181748	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	48952159	57181748	133972528	21	2946											
OTUD4	54726	broad.mit.edu	37	chr4	146077118	146077118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaaggtttaaatccattCacatcagcagcagcagcagc	15	7	8	11	0	2	0	2	0	0	0	3	1	3	0	1	1	5	5	1	1	3	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:146077118C>T	ENST00000447906.2	-	8	847	c.660G>A	c.(658-660)gtG>gtA	p.V220V	OTUD4_ENST00000454497.2_Silent_p.V155V|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	220					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAAATCCATTCACATCAGCAG	0.328																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(463-465)gtG>gtA		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							59	63	61					4																	146077118		2202	4300	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146077118C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.660G>A	4.37:g.146077118C>T							p.V155V	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			7	603	-	all_hematologic(180;0.151)		220			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.465G>A																																																																																					0.328	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		T	146077118	C	T	146077118	2	4	46	1	0	0	0	0	0	0	0	1	11314	813	29	3		3	OTUD4	4	146077118	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	88895370	146077118	45077158	22	2947											
EFNA5	1946	broad.mit.edu	37	chr5	106762936	106762936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatgtagaaatattctcGgcctggcctgaattcaaatc	13	11	8	9	1	2	3	1	1	1	2	4	3	2	3	2	2	0	1	2	2	5	4	rs142282920		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:106762936G>A	ENST00000333274.6	-	2	681	c.400C>T	c.(400-402)Cga>Tga	p.R134*	EFNA5_ENST00000509503.1_Nonsense_Mutation_p.R134*	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	134	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAATATTCTCGGCCTGGCCTG	0.428																																						uc003kol.3																			0				large_intestine(6)	6						c.(400-402)Cga>Tga		Homo sapiens ephrin-A5 (EFNA5), mRNA.							43	45	44					5																	106762936		2202	4300	6502	SO:0001587	stop_gained	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106762936G>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.400C>T	5.37:g.106762936G>A	ENSP00000328777:p.Arg134*					EFNA5_uc010jbr.1_Nonsense_Mutation_p.R134*	p.R134*	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	1	682	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	134						Nonsense_Mutation	SNP	ENST00000333274.6	37	c.400C>T	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509089	0.64410	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4577	17.1422	0.86757	0.0:0.0:0.8725:0.1275	.	.	.	.	X	134	.	ENSP00000328777:R134X	R	-	1	2	EFNA5	106790835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.823000	0.62694	1.623000	0.50342	-0.152000	0.13540	CGA		0.428	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		A	106762936	G	A	106762936	4	1	46	1	0	0	0	0	0	1	0	0	4954	1124	39	2	302	2	EFNA5	5	106762936	Nonsense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		106762936	74152324	23	2948											
TBC1D9B	23061	broad.mit.edu	37	chr5	179315134	179315134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacaacactggctttcCtgctcccgatactgcctggc	6	10	9	16	1	0	0	0	0	0	0	3	1	3	0	4	3	4	2	4	3	2	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:179315134C>T	ENST00000356834.3	-	7	1260	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R408K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	408						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGCTTTCCTGCTCCCGAT	0.567																																						uc003mlh.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(1222-1224)aGg>aAg		Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.							186	184	184					5																	179315134		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179315134C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1223G>A	5.37:g.179315134C>T	ENSP00000349291:p.Arg408Lys					TBC1D9B_uc003mli.3_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.R408K	p.R408K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1258	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	408					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1223G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	2.285	-0.363754	0.05103	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.08634	3.07;3.16	4.54	1.68	0.24146	.	0.854577	0.10249	N	0.697377	T	0.05731	0.0150	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15719	0.001;0.014;0.004	B;B;B	0.18871	0.007;0.023;0.01	T	0.43814	-0.9368	10	0.24483	T	0.36	-7.0762	6.6246	0.22823	0.0:0.6699:0.1568:0.1733	.	408;408;408	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	K	408	ENSP00000349291:R408K;ENSP00000347375:R408K	ENSP00000347375:R408K	R	-	2	0	TBC1D9B	179247740	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	1.256000	0.32921	0.603000	0.29913	0.491000	0.48974	AGG		0.567	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		T	179315134	C	T	179315134	3	4	46	1	0	0	0	0	1	0	0	0	15625	681	24	3	2593	3	TBC1D9B	5	179315134	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	72552198	179315134	1600126	24	2949											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604633	62604633	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggtagggacacctctTgctacaggtggcactggaag	9	7	16	9	1	1	0	0	0	1	0	1	3	1	2	1	6	2	3	1	6	3	3	rs368894079		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr6:62604633T>A	ENST00000281156.4	-	6	995	c.717A>T	c.(715-717)gcA>gcT	p.A239A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	239	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGACACCTCTTGCTACAGGTG	0.607																																						uc003peg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(715-717)gcA>gcT		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							53	54	53					6																	62604633		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604633T>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.717A>T	6.37:g.62604633T>A							p.A239A	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	964	-			239			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.717A>T	CCDS4963.1																																																																																				0.607	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		A	62604633	T	A	62604633	2	1	46	1	0	0	0	0	0	0	0	1	8147	1799	63	5		5	KHDRBS2	6	62604633	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08		62604633	108510434	25	2950											
GPR85	54329	broad.mit.edu	37	chr7	112724285	112724288	+	Frame_Shift_Del	DEL	TGAG	TGAG	-																															tgatcttcctccctaatgaaTgagtaagtgcccacgtctaa																										TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:112724285_112724288delTGAG	ENST00000297146.3	-	3	1092_1095	c.489_492delCTCA	c.(487-492)tactcafs	p.YS163fs	GPR85_ENST00000424100.1_Frame_Shift_Del_p.YS163fs|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Frame_Shift_Del_p.YS163fs|GPR85_ENST00000449591.1_Frame_Shift_Del_p.YS163fs	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	163					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTAATGAATGAGTAAGTGCCCA	0.5																																						uc010ljv.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(487-492)tactcafs		Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724285_112724288delTGAG	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.489_492delCTCA	7.37:g.112724285_112724288delTGAG	ENSP00000297146:p.Tyr163fs					GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs|GPR85_uc022akd.1_Frame_Shift_Del_p.Y163fs	p.Y163fs	NM_001146266	NP_061843	P60893	GPR85_HUMAN			1	1006_1009	-			163					Q9JHI6|Q9NPD1	Frame_Shift_Del	DEL	ENST00000297146.3	37	c.489_492delCTCA	CCDS5758.1																																																																																				0.5	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			-	112724288	TGAG	-	112724285	7	5	46	1	0	1	0	1	0	0	0	0	6715	1451	51	0	624	0	GPR85	7	112724285	Frame_Shift_Del	DEL	TGAG	TCGA-06-0216-01B-01D-1492-08		112724285	46414378	26	2951											
GIMAP6	474344	broad.mit.edu	37	chr7	150325381	150325381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacctctggcgagacctggGgggacagaatgttgggtgtg	7	8	17	9	1	1	2	0	0	1	2	1	4	1	3	3	5	0	1	3	5	1	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150325381G>A	ENST00000328902.5	-	3	521	c.305C>T	c.(304-306)cCc>cTc	p.P102L	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	102	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGACCTGGGGGGACAGAAT	0.622																																						uc022apv.1																			0		p.G171S(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(514-516)cCc>cTc		Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.							75	78	77					7																	150325381		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325381G>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.305C>T	7.37:g.150325381G>A	ENSP00000330374:p.Pro102Leu					GIMAP6_uc003whn.3_Missense_Mutation_p.P102L|GIMAP6_uc003whm.3_Intron	p.P172L	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	995	-			102					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.515C>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087387	0.36855	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.36340	1.26	4.07	4.07	0.47477	AIG1 (1);	0.355032	0.29286	N	0.012598	T	0.35856	0.0946	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.22487	-1.0215	10	0.40728	T	0.16	.	11.6143	0.51080	0.0:0.0:1.0:0.0	.	102	Q6P9H5	GIMA6_HUMAN	L	102;163	ENSP00000330374:P102L	ENSP00000330374:P102L	P	-	2	0	GIMAP6	149956314	0.125000	0.22332	0.006000	0.13384	0.001000	0.01503	2.505000	0.45424	2.123000	0.65237	0.561000	0.74099	CCC		0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		A	150325381	G	A	150325381	3	1	46	1	0	0	0	0	1	0	0	0	6383	1232	43	3	577	3	GIMAP6	7	150325381	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	37601096	150325381	8813282	27	2952											
ABP1	26	broad.mit.edu	37	chr7	150554420	150554420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctcccacaagcccCgcggggacttccccagcccc	5	7	7	22	2	2	0	0	0	2	0	5	1	4	1	8	2	2	0	8	2	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150554420C>T	ENST00000493429.1	+	4	1446	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	AOC1_ENST00000467291.1_Missense_Mutation_p.R288C|AOC1_ENST00000360937.4_Missense_Mutation_p.R288C|AOC1_ENST00000416793.2_Missense_Mutation_p.R288C			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	288					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CCACAAGCCCCGCGGGGACTT	0.697																																						uc003why.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(862-864)Cgc>Tgc		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)																																			SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554420C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.862C>T	7.37:g.150554420C>T	ENSP00000418614:p.Arg288Cys					ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C	p.R288C	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	5080	+	all_neural(206;0.219)		288					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.862C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104123	0.56291	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.16	5.16	0.70880	Copper amine oxidase, C-terminal (1);Copper amine oxidase, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.38931	0.1059	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65443	0.935;0.895	T	0.08617	-1.0713	10	0.72032	D	0.01	-22.4394	16.1843	0.81939	0.0:1.0:0.0:0.0	.	288;288	C9J690;P19801	.;ABP1_HUMAN	C	288;288;288;288;164;288	ENSP00000418614:R288C;ENSP00000418328:R288C;ENSP00000354193:R288C;ENSP00000411613:R288C;ENSP00000417392:R288C	ENSP00000354193:R288C	R	+	1	0	ABP1	150185353	0.834000	0.29399	0.201000	0.23476	0.418000	0.31294	1.617000	0.36943	2.679000	0.91253	0.561000	0.74099	CGC		0.697	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150554420	C	T	150554420	3	4	46	1	0	0	0	0	1	0	0	0	98	652	23	2	864	2	ABP1	7	150554420	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	229039	150554420	8584243	28	2953											
CPA6	57094	broad.mit.edu	37	chr8	68419124	68419124	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgtgatcgtctgcccagCtgaaaacaagagcattcaca	13	8	9	11	2	2	3	1	2	1	1	4	3	2	3	1	0	4	2	1	0	3	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:68419124C>G	ENST00000297770.4	-	6	750		c.e6-1		CPA6_ENST00000297769.4_Splice_Site|CPA6_ENST00000518549.1_Splice_Site	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6							proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTCTGCCCAGCTGAAAACAAG	0.408																																						uc003xxq.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.e6-1		Homo sapiens carboxypeptidase A6 (CPA6), mRNA.							127	109	115					8																	68419124		2203	4300	6503	SO:0001630	splice_region_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68419124C>G	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.535-1G>C	8.37:g.68419124C>G						CPA6_uc003xxr.4_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice	p.L179_splice	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		6	791	-			179					Q8NEX8|Q8TDE8|Q9NRI9	Splice_Site	SNP	ENST00000297770.4	37	c.535_splice	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669872	0.88348	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5721	0.91138	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPA6	68581678	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.614000	0.74197	2.474000	0.83562	0.655000	0.94253	.		0.408	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	Intron	G	68419124	C	G	68419124	5	3	46	1	0	0	0	0	0	0	1	0	3794	811	28	5	803	5	CPA6	8	68419124	Splice_Site	SNP	C	TCGA-06-0216-01B-01D-1492-08		68419124	77944898	29	2954											
CDH17	1015	broad.mit.edu	37	chr8	95189845	95189845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtagatcttgtttccctGtccaaggctctgttgtaata	8	16	9	8	0	2	2	0	1	2	1	4	2	4	2	2	1	0	5	2	1	4	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:95189845G>A	ENST00000027335.3	-	4	379	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CDH17_ENST00000450165.2_Silent_p.D85D|CDH17_ENST00000441892.2_Silent_p.D85D	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGTTTCCCTGTCCAAGGCTC	0.458																																						uc003ygh.2																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(253-255)gaC>gaT		Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.							216	205	209					8																	95189845		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95189845G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.255C>T	8.37:g.95189845G>A						CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D	p.D85D	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		3	380	-	Breast(36;4.65e-06)		85			Cadherin 1.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.255C>T	CCDS6260.1																																																																																				0.458	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		A	95189845	G	A	95189845	2	1	46	1	0	0	0	0	0	0	0	1	3102	1368	48	3		3	CDH17	8	95189845	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	26770721	95189845	51174177	30	2955											
NFIB	4781	broad.mit.edu	37	chr9	14307244	14307244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattggataagacacagcaCgggtgcttcttgccagtcac	10	9	12	10	1	2	1	1	0	1	1	2	3	2	3	1	3	3	2	1	3	1	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:14307244C>T	ENST00000380959.3	-	2	779	c.306G>A	c.(304-306)ccG>ccA	p.P102P	NFIB_ENST00000397581.2_Silent_p.P102P|NFIB_ENST00000380921.3_Silent_p.P102P|NFIB_ENST00000397575.3_Silent_p.P102P|NFIB_ENST00000397579.2_Silent_p.P102P|NFIB_ENST00000380934.4_Silent_p.P128P|NFIB_ENST00000380953.1_Silent_p.P102P	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	102					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGACACAGCACGGGTGCTTCT	0.527			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc022bdo.1				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(304-306)ccG>ccA		Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.							137	136	137					9																	14307244		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307244C>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.306G>A	9.37:g.14307244C>T						NFIB_uc003zlf.3_Silent_p.P102P|NFIB_uc003zle.3_Silent_p.P102P|NFIB_uc022bdp.1_Silent_p.P128P|NFIB_uc011lmo.2_Silent_p.P102P	p.P102P	NM_001190737	NP_001177666	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	1	841	-			102					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.306G>A	CCDS6474.1																																																																																				0.527	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		T	14307244	C	T	14307244	2	4	46	1	0	0	0	0	0	0	0	1	10371	523	19	1		1	NFIB	9	14307244	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		14307244	126906187	31	2956											
SHB	6461	broad.mit.edu	37	chr9	37948668	37948668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgcttgctggtctggCtgttccggacaaggtagcta	7	12	13	9	1	2	0	1	0	1	0	3	1	3	1	1	4	3	6	1	4	3	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:37948668C>T	ENST00000377707.3	-	5	1875	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTGGTCTGGCTGTTCCGGAC	0.647																																						uc004aax.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(1309-1311)aGc>aAc		Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.							66	77	73					9																	37948668		2175	4283	6458	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37948668C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1310G>A	9.37:g.37948668C>T	ENSP00000366936:p.Ser437Asn						p.S437N	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	4	1878	-		all_epithelial(88;0.122)	437			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1310G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052070	0.93793	.	.	ENSG00000107338	ENST00000377707	D	0.95069	-3.6	5.11	5.11	0.69529	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.98251	0.9421	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99486	1.0949	10	0.87932	D	0	-24.0704	16.378	0.83412	0.0:1.0:0.0:0.0	.	437	Q15464	SHB_HUMAN	N	437	ENSP00000366936:S437N	ENSP00000366936:S437N	S	-	2	0	SHB	37938668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.328000	0.79160	2.535000	0.85469	0.563000	0.77884	AGC		0.647	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			T	37948668	C	T	37948668	3	4	46	1	0	0	0	0	1	0	0	0	14268	797	28	3	227	3	SHB	9	37948668	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	23641424	37948668	103264763	32	2957											
ALDOB	229	broad.mit.edu	37	chr9	104187273	104187273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggttgatagcattgAggttgagagtggcatcctct	10	11	14	6	0	1	3	0	3	1	1	2	4	2	3	1	4	1	5	1	4	2	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:104187273A>T	ENST00000374855.4	-	8	975	c.851T>A	c.(850-852)cTc>cAc	p.L284H	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	284			L -> P (in HFI). {ECO:0000269|PubMed:15880727}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GATAGCATTGAGGTTGAGAGT	0.517																																						uc004bbk.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24	GRCh37	CM051841	ALDOB	M		c.(850-852)cTc>cAc		Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.							93	87	89					9																	104187273		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187273A>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.851T>A	9.37:g.104187273A>T	ENSP00000363988:p.Leu284His						p.L284H	NM_000035	NP_000026	P05062	ALDOB_HUMAN			7	933	-		Acute lymphoblastic leukemia(62;0.0559)	284		L -> P (in HFI).			Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.851T>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810034	0.90707	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.95412	-3.7	5.81	5.81	0.92471	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99000	1.0811	10	0.87932	D	0	-11.6784	15.6368	0.76961	1.0:0.0:0.0:0.0	.	284	P05062	ALDOB_HUMAN	H	284;211;284	ENSP00000363988:L284H	ENSP00000363986:L211H	L	-	2	0	ALDOB	103227094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.343000	0.79666	0.533000	0.62120	CTC		0.517	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			T	104187273	A	T	104187273	3	4	46	1	0	0	0	0	1	0	0	0	508	304	11	5	251	5	ALDOB	9	104187273	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	66238605	104187273	37026158	33	2958											
PTGS1	5742	broad.mit.edu	37	chr9	125146014	125146014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagcagcttttccagaCgacccgcctcatcctcatag	9	9	8	15	3	2	2	2	1	0	1	4	4	4	2	4	0	2	2	4	0	1	3	rs543848883		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:125146014C>T	ENST00000362012.2	+	8	994	c.989C>T	c.(988-990)aCg>aTg	p.T330M	PTGS1_ENST00000373698.5_Missense_Mutation_p.T221M|PTGS1_ENST00000540753.1_Missense_Mutation_p.T305M|PTGS1_ENST00000223423.4_Missense_Mutation_p.T330M	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	330					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTTTTCCAGACGACCCGCCTC	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		15752	0		0	False		,,,				2504	0					uc004bmg.1																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(988-990)aCg>aTg		Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						67	58	61					9																	125146014		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125146014C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.989C>T	9.37:g.125146014C>T	ENSP00000354612:p.Thr330Met					PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M	p.T330M	NM_000962	NP_000953	P23219	PGH1_HUMAN			7	1124	+			330					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.989C>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900465	0.92035	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.91444	0.5176	10	0.87932	D	0	-18.5197	17.9808	0.89140	0.0:1.0:0.0:0.0	.	305;330;330	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	M	305;330;330;221	ENSP00000437709:T305M;ENSP00000354612:T330M;ENSP00000223423:T330M;ENSP00000362802:T221M	ENSP00000223423:T330M	T	+	2	0	PTGS1	124185835	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.469000	0.83416	0.561000	0.74099	ACG		0.607	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			T	125146014	C	T	125146014	3	4	46	1	0	0	0	0	1	0	0	0	12755	536	19	1	1019	1	PTGS1	9	125146014	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	20958741	125146014	16067417	34	2959											
COQ4	51117	broad.mit.edu	37	chr9	131088069	131088069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctttcagggagcgtccccGgatttcgacatccaccctcg	6	9	10	16	4	1	0	1	0	0	0	5	3	3	2	5	2	1	0	5	2	0	2	rs572683310		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:131088069G>A	ENST00000300452.3	+	4	634	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	COQ4_ENST00000372875.3_Missense_Mutation_p.R104Q	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						GAGCGTCCCCGGATTTCGACA	0.587																																						uc004bur.4																			0				endometrium(4)|large_intestine(1)|lung(4)	9						c.(310-312)cGg>cAg		Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.							87	79	81					9																	131088069		2203	4300	6503	SO:0001583	missense	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131088069G>A	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"coenzyme Q4 homolog (yeast)", "coenzyme Q4 homolog (S. cerevisiae)"			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.311G>A	9.37:g.131088069G>A	ENSP00000300452:p.Arg104Gln					COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc010mxy.3_Missense_Mutation_p.R80Q	p.R104Q	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			3	658	+			104						Missense_Mutation	SNP	ENST00000300452.3	37	c.311G>A	CCDS6898.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287277	0.95517	.	.	ENSG00000167113	ENST00000300452;ENST00000372875	T;T	0.52295	0.67;0.67	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.73375	-0.4002	10	0.33141	T	0.24	-27.5308	20.3594	0.98849	0.0:0.0:1.0:0.0	.	104;104	Q5T4B9;Q9Y3A0	.;COQ4_HUMAN	Q	104	ENSP00000300452:R104Q;ENSP00000361966:R104Q	ENSP00000300452:R104Q	R	+	2	0	COQ4	130127890	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	8.703000	0.91344	2.816000	0.96949	0.563000	0.77884	CGG		0.587	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035		A	131088069	G	A	131088069	3	1	46	1	0	0	0	0	1	0	0	0	3747	1116	39	2	325	2	COQ4	9	131088069	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	5942055	131088069	10125362	35	2960											
AGAP6	414189	broad.mit.edu	37	chr10	51768724	51768724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaccatcgggagcggtaGagccatccccattaaacagg	12	6	11	12	2	0	2	0	1	0	1	2	3	1	3	4	3	3	1	4	3	3	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:51768724G>C	ENST00000374056.4	+	7	1168	c.770G>C	c.(769-771)aGa>aCa	p.R257T	AGAP6_ENST00000412531.3_Missense_Mutation_p.R280T			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	257					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GGGAGCGGTAGAGCCATCCCC	0.507																																						uc001jix.4																			0		p.G279C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(838-840)aGa>aCa		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768724G>C		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.770G>C	10.37:g.51768724G>C	ENSP00000363168:p.Arg257Thr						p.R280T	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN			7	1237	+			280						Missense_Mutation	SNP	ENST00000374056.4	37	c.839G>C		.	.	.	.	.	.	.	.	.	.	.	14.50	2.555232	0.45487	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.160683	0.42420	D	0.000710	T	0.65770	0.2723	M	0.71581	2.175	0.43364	D	0.99544	D	0.62365	0.991	D	0.63597	0.916	T	0.63355	-0.6656	9	0.62326	D	0.03	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	280	C9IYN2	.	T	280;257	.	ENSP00000363168:R280T	R	+	2	0	AGAP6	51438730	0.978000	0.34361	0.201000	0.23476	0.203000	0.24098	3.620000	0.54203	0.132000	0.18615	0.134000	0.15878	AGA		0.507	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		C	51768724	G	C	51768724	3	2	46	1	0	0	0	0	1	0	0	0	372	942	33	5	869	5	AGAP6	10	51768724	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		51768724	83766023	36	2961											
PTEN	5728	broad.mit.edu	37	chr10	89692835	89692835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcaaacccttttgtgaaGatcttgaccaatggctaagt	12	14	7	8	0	2	3	1	2	1	1	2	3	2	3	2	1	1	1	2	1	5	5	rs57374291		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:89692835G>C	ENST00000371953.3	+	5	1676	c.319G>C	c.(319-321)Gat>Cat	p.D107H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		D -> Y (in BRRS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(4)	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(319-321)Gat>Cat		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							118	109	112					10																	89692835		2203	4297	6500	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692835G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.319G>C	10.37:g.89692835G>C	ENSP00000361021:p.Asp107His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D107H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1351	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.319G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775606	0.90195	.	.	ENSG00000171862	ENST00000371953	D	0.86230	-2.09	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91257	0.5034	9	.	.	.	-8.2539	18.4584	0.90729	0.0:0.0:1.0:0.0	.	107	P60484	PTEN_HUMAN	H	107	ENSP00000361021:D107H	.	D	+	1	0	PTEN	89682815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	GAT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692835	G	C	89692835	3	2	46	1	0	0	0	0	1	0	0	0	12738	942	33	5	337	5	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	37924111	89692835	45841912	37	2962											
BNIP3	664	broad.mit.edu	37	chr10	133787377	133787377	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttttccatgtctccattAtaaatagaaaccgaggctgg	12	14	7	8	1	1	1	0	0	1	1	3	2	2	1	3	2	1	1	3	2	5	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:133787377A>T	ENST00000368636.4	-	2	241	c.117T>A	c.(115-117)taT>taA	p.Y39*	BNIP3_ENST00000540159.1_Nonsense_Mutation_p.Y39*	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	39					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTCTCCATTATAAATAGAAA	0.517																																						uc001lkv.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(115-117)taT>taA		Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.							92	85	88					10																	133787377		2203	4300	6503	SO:0001587	stop_gained	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133787377A>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.117T>A	10.37:g.133787377A>T	ENSP00000357625:p.Tyr39*					BNIP3_uc010qut.1_Nonsense_Mutation_p.Y39*	p.Y39*	NM_004052	NP_004043	Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	1	242	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	39					O14620|Q96GP0	Nonsense_Mutation	SNP	ENST00000368636.4	37	c.117T>A	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694550	0.88830	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.89	0.104	0.14531	.	0.260360	0.37809	N	0.001935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0465	8.5832	0.33642	0.4891:0.0:0.5109:0.0	.	.	.	.	X	39	.	ENSP00000357625:Y39X	Y	-	3	2	BNIP3	133637367	0.998000	0.40836	0.736000	0.30914	0.915000	0.54546	0.474000	0.22148	-0.089000	0.12484	0.533000	0.62120	TAT		0.517	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1			T	133787377	A	T	133787377	4	4	46	1	0	0	0	0	0	1	0	0	1478	456	16	5	487	5	BNIP3	10	133787377	Nonsense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	44094542	133787377	1747370	38	2963											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195500	18195500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcggcctgcccttcGgcattctgggggccctaatt	3	12	11	15	2	2	0	0	0	2	0	4	0	3	0	4	4	2	1	4	4	1	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:18195500G>A	ENST00000314254.3	+	1	1117	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G233S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGCCCTTCGGCATTCTGGG	0.527																																						uc001mnv.1																			1	Substitution - Missense(1)	p.G233S(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(697-699)Ggc>Agc		Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.							92	86	88					11																	18195500		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195500G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.697G>A	11.37:g.18195500G>A	ENSP00000314042:p.Gly233Ser						p.G233S	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			0	1117	+			233					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.697G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374209	0.42105	.	.	ENSG00000179817	ENST00000314254	T	0.37915	1.17	2.85	-0.501	0.12008	GPCR, rhodopsin-like superfamily (1);	0.194885	0.36338	N	0.002650	T	0.46386	0.1390	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.31081	-0.9956	10	0.46703	T	0.11	.	2.8387	0.05523	0.3749:0.0:0.4249:0.2001	.	233	Q96LA9	MRGX4_HUMAN	S	233	ENSP00000314042:G233S	ENSP00000314042:G233S	G	+	1	0	MRGPRX4	18152076	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.145000	0.10265	-0.219000	0.10003	0.430000	0.28490	GGC		0.527	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		A	18195500	G	A	18195500	3	1	46	1	0	0	0	0	1	0	0	0	9769	1116	39	2	699	2	MRGPRX4	11	18195500	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		18195500	116811016	39	2964											
LRRC4C	57689	broad.mit.edu	37	chr11	40137192	40137192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcatctagttttatgagCggtgtgaggttagggatttc	8	15	13	5	1	2	2	1	2	1	0	3	3	2	3	0	3	2	3	0	3	3	5	rs370666599		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:40137192C>T	ENST00000278198.2	-	2	2614	c.651G>A	c.(649-651)ccG>ccA	p.P217P	LRRC4C_ENST00000528697.1_Silent_p.P217P|LRRC4C_ENST00000530763.1_Silent_p.P217P|LRRC4C_ENST00000527150.1_Silent_p.P217P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	217					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P217P(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTTTATGAGCGGTGTGAGGT	0.458																																						uc021qgf.1																			2	Substitution - coding silent(2)	p.P217P(4)	large_intestine(1)|lung(1)	NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(649-651)ccG>ccA		Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	83	82	82		651	-8	0.5	11		82	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		217/641	40137192	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137192C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.651G>A	11.37:g.40137192C>T						LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxa.1_Silent_p.P217P|LRRC4C_uc001mxb.1_Silent_p.P213P	p.P217P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			0	651	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	217					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.651G>A	CCDS31464.1																																																																																				0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		T	40137192	C	T	40137192	2	4	46	1	0	0	0	0	0	0	0	1	9008	755	27	1		1	LRRC4C	11	40137192	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	21941692	40137192	94869324	40	2965											
LRRC55	219527	broad.mit.edu	37	chr11	56950084	56950084	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcagatcggtggcaaTccctgggtgtgtggctgcac	6	9	14	12	1	0	1	0	0	0	1	2	1	1	1	2	4	2	4	2	4	1	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:56950084T>A	ENST00000497933.1	+	1	864	c.717T>A	c.(715-717)aaT>aaA	p.N239K		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	209	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGGTGGCAATCCCTGGGTGT	0.632																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(715-717)aaT>aaA		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							91	87	89					11																	56950084		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950084T>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.717T>A	11.37:g.56950084T>A	ENSP00000419542:p.Asn239Lys						p.N239K	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	864	+			209			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.717T>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895540	0.72639	.	.	ENSG00000183908	ENST00000497933	T	0.04970	3.52	5.77	1.76	0.24704	Cysteine-rich flanking region, C-terminal (1);	0.192161	0.37530	N	0.002059	T	0.35799	0.0944	H	0.99225	4.475	0.47037	D	0.999296	D	0.89917	1.0	D	0.97110	1.0	T	0.08371	-1.0725	10	0.87932	D	0	.	4.9923	0.14220	0.1378:0.559:0.0:0.3032	.	209	Q6ZSA7	LRC55_HUMAN	K	239	ENSP00000419542:N239K	ENSP00000419542:N239K	N	+	3	2	LRRC55	56706660	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.355000	0.34068	0.067000	0.16545	-0.366000	0.07423	AAT		0.632	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		A	56950084	T	A	56950084	3	1	46	1	0	0	0	0	1	0	0	0	9011	1432	50	5	719	5	LRRC55	11	56950084	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	16812892	56950084	78056432	41	2966											
DAGLA	747	broad.mit.edu	37	chr11	61511858	61511858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacgcccacgggcctcaGtagccaggaatgcctggcgg	7	5	14	15	3	1	1	1	1	0	0	1	2	1	2	5	4	2	1	5	4	2	1	rs200476425		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:61511858G>A	ENST00000257215.5	+	20	3142	c.3026G>A	c.(3025-3027)aGt>aAt	p.S1009N	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	1009					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACGGGCCTCAGTAGCCAGGAA	0.657																																						uc001nsa.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(3025-3027)aGt>aAt		Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.							42	46	45					11																	61511858		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511858G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.3026G>A	11.37:g.61511858G>A	ENSP00000257215:p.Ser1009Asn						p.S1009N	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	3142	+			1009					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.3026G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978895	0.53827	.	.	ENSG00000134780	ENST00000257215	T	0.29142	1.58	4.14	3.13	0.36017	.	0.181369	0.48767	D	0.000178	T	0.21468	0.0517	N	0.24115	0.695	0.39138	D	0.961993	B	0.33073	0.396	B	0.32211	0.142	T	0.28364	-1.0046	10	0.72032	D	0.01	-30.0843	13.4884	0.61379	0.0:0.1578:0.8422:0.0	.	1009	Q9Y4D2	DGLA_HUMAN	N	1009	ENSP00000257215:S1009N	ENSP00000257215:S1009N	S	+	2	0	DAGLA	61268434	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.904000	0.48719	2.040000	0.60383	0.462000	0.41574	AGT		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61511858	G	A	61511858	3	1	46	1	0	0	0	0	1	0	0	0	4226	1029	36	3	3100	3	DAGLA	11	61511858	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	4561774	61511858	73494658	42	2967											
STX5	6811	broad.mit.edu	37	chr11	62593006	62593006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgtttgttgaggctattGatgtcctggtaaaagagtcc	9	16	11	5	0	0	3	0	2	0	1	2	3	2	3	2	2	0	4	2	2	3	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:62593006G>C	ENST00000294179.3	-	6	582	c.429C>G	c.(427-429)atC>atG	p.I143M	STX5_ENST00000394690.1_Missense_Mutation_p.I89M|STX5_ENST00000541317.1_Missense_Mutation_p.I47M|STX5_ENST00000377897.4_Missense_Mutation_p.I143M	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	143					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGAGGCTATTGATGTCCTGGT	0.507																																						uc001nvh.3																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(427-429)atC>atG		Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.							102	104	103					11																	62593006		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62593006G>C	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.429C>G	11.37:g.62593006G>C	ENSP00000294179:p.Ile143Met					STX5_uc010rmj.2_Missense_Mutation_p.I143M|STX5_uc010rmi.2_Missense_Mutation_p.I47M	p.I143M	NM_003164	NP_003155	Q13190	STX5_HUMAN			5	586	-			143					B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.429C>G	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394007	0.62066	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.28	4.35	0.52113	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.969	T	0.26883	-1.0090	10	0.59425	D	0.04	-0.6087	6.9309	0.24442	0.0882:0.0:0.7392:0.1726	.	143;143	F8W8Q9;Q13190	.;STX5_HUMAN	M	143;143;89;47	ENSP00000367129:I143M;ENSP00000294179:I143M;ENSP00000378182:I89M;ENSP00000441428:I47M	ENSP00000294179:I143M	I	-	3	3	STX5	62349582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.877000	0.39598	2.758000	0.94735	0.563000	0.77884	ATC		0.507	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		C	62593006	G	C	62593006	3	2	46	1	0	0	0	0	1	0	0	0	15347	1280	45	5	662	5	STX5	11	62593006	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1081148	62593006	72413510	43	2968											
NUMA1	4926	broad.mit.edu	37	chr11	71717271	71717271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccgcgtgctgtagaaCgatgagttggcgctgtctgg	7	9	16	9	4	1	3	0	1	1	2	1	4	1	3	1	2	2	5	1	2	2	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:71717271C>T	ENST00000393695.3	-	22	5833	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_ENST00000351960.6_Silent_p.S698S|NUMA1_ENST00000358965.6_Silent_p.S1820S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5500-5502)tcG>tcA		Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.							98	85	89					11																	71717271		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717271C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5502G>A	11.37:g.71717271C>T						NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	p.S1834S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			21	5674	-			1834						Silent	SNP	ENST00000393695.3	37	c.5502G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265930	0.40095	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.21	3.31	0.37934	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31641	-0.9936	4	.	.	.	.	4.2297	0.10597	0.0765:0.139:0.4976:0.2869	.	.	.	.	H	683	.	.	R	-	2	0	NUMA1	71394919	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	1.077000	0.30741	0.343000	0.23821	-0.120000	0.15030	CGT		0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71717271	C	T	71717271	2	4	46	1	0	0	0	0	0	0	0	1	10750	523	19	1		1	NUMA1	11	71717271	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	9124265	71717271	63289245	44	2969											
FOLR4	390243	broad.mit.edu	37	chr11	94040846	94040846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctccctgttcctgccGttcctttcctgagagccctt	2	15	8	16	1	1	1	0	1	1	1	5	2	5	1	6	0	3	3	6	0	0	4	rs376599967		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:94040846G>A	ENST00000440961.2	+	4	764	c.720G>A	c.(718-720)ccG>ccA	p.P240P		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	247					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGTTCCTGCCGTTCCTTTCCT	0.617																																						uc021qou.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(739-741)ccG>ccA		Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.		G		0,4184		0,0,2092	272	271	271		741	-7.9	0	11		271	1,8459		0,1,4229	no	coding-synonymous	FOLR4	NM_001199206.1		0,1,6321	AA,AG,GG		0.0118,0.0,0.0079		247/251	94040846	1,12643	2092	4230	6322	SO:0001819	synonymous_variant	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040846G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.720G>A	11.37:g.94040846G>A							p.P247P	NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN			3	741	+			247						Silent	SNP	ENST00000440961.2	37	c.741G>A																																																																																					0.617	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		A	94040846	G	A	94040846	2	1	46	1	0	0	0	0	0	0	0	1	5984	1132	40	1		1	FOLR4	11	94040846	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	22323575	94040846	40965670	45	2970											
BCAT1	586	broad.mit.edu	37	chr12	25047326	25047326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgtcagcatatgatcCgtgaacacagttccaaaaac	14	8	6	13	2	1	2	1	2	0	0	4	2	4	2	4	0	3	2	4	0	4	2	rs372121259		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:25047326C>T	ENST00000261192.7	-	3	688	c.162G>A	c.(160-162)acG>acA	p.T54T	BCAT1_ENST00000342945.5_Silent_p.T30T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Silent_p.T54T|BCAT1_ENST00000538118.1_Silent_p.T53T|BCAT1_ENST00000539282.1_Silent_p.T66T	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	54					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	GCATATGATCCGTGAACACAG	0.453																																						uc001rgd.4																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(160-162)acG>acA		Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	C	,,,,	1,3797		0,1,1898	90	89	90		162,90,198,159,162	-4.4	0.9	12		90	1,8241		0,1,4120	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAT1	NM_001178091.1,NM_001178092.1,NM_001178093.1,NM_001178094.1,NM_005504.6	,,,,	0,2,6018	TT,TC,CC		0.0121,0.0263,0.0166	,,,,	54/350,30/326,66/399,53/386,54/387	25047326	2,12038	1899	4121	6020	SO:0001819	synonymous_variant	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25047326C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.162G>A	12.37:g.25047326C>T						BCAT1_uc001rgc.3_Silent_p.T53T|BCAT1_uc010six.2_Silent_p.T66T|BCAT1_uc010siy.2_Silent_p.T54T|BCAT1_uc001rge.4_Silent_p.T30T	p.T54T	NM_005504	NP_005495	P54687	BCAT1_HUMAN			2	689	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		54					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	c.162G>A	CCDS44845.1																																																																																				0.453	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		T	25047326	C	T	25047326	2	4	46	1	0	0	0	0	0	0	0	1	1354	639	23	2		2	BCAT1	12	25047326	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		25047326	108804569	46	2971											
CIT	11113	broad.mit.edu	37	chr12	120142198	120142198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtatttgctgaggttttcGttgtagcggagaatgacgac	9	13	13	6	3	0	3	0	2	0	1	1	5	0	3	0	2	2	5	0	2	3	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:120142198G>A	ENST00000261833.7	-	40	5200	c.5148C>T	c.(5146-5148)aaC>aaT	p.N1716N	CIT_ENST00000392521.2_Silent_p.N1758N|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1716	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGGTTTTCGTTGTAGCGGA	0.512																																						uc001txj.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5272-5274)aaC>aaT		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							204	167	179					12																	120142198		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120142198G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5148C>T	12.37:g.120142198G>A						CIT_uc001txh.2_Silent_p.N1235N|CIT_uc001txi.2_Silent_p.N1716N	p.N1758N	NM_001206999	NP_001193928	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	40	5330	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1716			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5274C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	8.298	0.819341	0.16607	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.4	-8.11	0.01082	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71728	-0.4505	4	.	.	.	.	19.099	0.93266	0.6872:0.0:0.3128:0.0	.	.	.	.	M	1329	.	.	T	-	2	0	CIT	118626581	0.000000	0.05858	0.502000	0.27614	0.973000	0.67179	-1.427000	0.02441	-1.741000	0.01344	-1.057000	0.02308	ACG		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		A	120142198	G	A	120142198	2	1	46	1	0	0	0	0	0	0	0	1	3438	1136	40	1		1	CIT	12	120142198	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	95094872	120142198	13709697	47	2972											
AACS	65985	broad.mit.edu	37	chr12	125621257	125621257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtcccccagtataaCaagtacagggaggagagggt	11	8	14	8	0	0	1	0	0	0	1	1	3	1	2	2	3	2	2	2	3	4	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:125621257C>T	ENST00000316519.6	+	17	1934	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	AACS_ENST00000316543.10_Silent_p.N174N|AACS_ENST00000543665.1_Intron|AACS_ENST00000261686.6_Intron|AACS_ENST00000398953.2_3'UTR|AACS_ENST00000545511.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	576					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCCAGTATAACAAGTACAGGG	0.597																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1726-1728)aaC>aaT		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.							108	90	96					12																	125621257		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125621257C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1728C>T	12.37:g.125621257C>T						AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.N174N	p.N576N	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	16	1934	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		576					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.1728C>T	CCDS9263.1																																																																																				0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		T	125621257	C	T	125621257	2	4	46	1	0	0	0	0	0	0	0	1	9	477	17	3		3	AACS	12	125621257	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	5479059	125621257	8230638	48	2973											
GALNT9	50614	broad.mit.edu	37	chr12	132688129	132688129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcgcgcagggcgttgCgcttggcatagtagtcaatg	6	8	17	10	6	1	0	1	0	0	0	1	0	1	0	0	4	1	5	0	4	3	4	rs375596382		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:132688129C>T	ENST00000328957.8	-	7	1183	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	GALNT9_ENST00000397325.2_Missense_Mutation_p.R29H|GALNT9_ENST00000535228.1_Missense_Mutation_p.R146H|GALNT9_ENST00000541995.1_Missense_Mutation_p.R29H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	395					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGGGCGTTGCGCTTGGCATA	0.637																																					Colon(186;2147 2752 13553 41466)	uc001ukc.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1183-1185)cGc>cAc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.		C	HIS/ARG,HIS/ARG	0,4382		0,0,2191	85	99	94		107,86	3.9	1	12		94	1,8571	1.2+/-3.3	0,1,4285	no	missense,missense	GALNT9	NM_001122636.1.dup,NM_021808.3	29,29	0,1,6476	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	36/245,29/238	132688129	1,12953	2191	4286	6477	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688129C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1184G>A	12.37:g.132688129C>T	ENSP00000329846:p.Arg395His					GALNT9_uc009zyr.3_Missense_Mutation_p.R169H|GALNT9_uc001ukb.3_Missense_Mutation_p.R252H|GALNT9_uc001uka.3_Missense_Mutation_p.R29H	p.R395H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	6	1300	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	395					Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1184G>A		.	.	.	.	.	.	.	.	.	.	c	27.2	4.809889	0.90707	0.0	1.17E-4	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356;ENST00000542942	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;1.29	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.957;0.961	T	0.68891	-0.5289	10	0.37606	T	0.19	.	16.216	0.82217	0.0:1.0:0.0:0.0	.	146;395;252	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	H	29;395;146;29;29;29	ENSP00000380488:R29H;ENSP00000329846:R395H;ENSP00000439745:R146H;ENSP00000440544:R29H;ENSP00000444709:R29H;ENSP00000438221:R29H	ENSP00000329846:R395H	R	-	2	0	GALNT9	131254082	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.499000	0.81566	1.865000	0.54081	0.462000	0.41574	CGC		0.637	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		T	132688129	C	T	132688129	3	4	46	1	0	0	0	0	1	0	0	0	6220	768	27	1	647	1	GALNT9	12	132688129	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	7066872	132688129	1163766	49	2974											
HTR2A	3356	broad.mit.edu	37	chr13	47466570	47466570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttcagaaatgccttagTtctggagttgaagcggctgt	9	14	12	6	1	2	2	1	1	1	1	2	4	2	3	1	2	2	3	1	2	3	5			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:47466570T>C	ENST00000378688.4	-	2	699	c.568A>G	c.(568-570)Act>Gct	p.T190A	HTR2A_ENST00000543956.1_Missense_Mutation_p.T106A|HTR2A_ENST00000542664.1_Missense_Mutation_p.T190A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	190					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AATGCCTTAGTTCTGGAGTTG	0.493																																						uc010acr.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(568-570)Act>Gct		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						295	296	296					13																	47466570		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47466570T>C	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.568A>G	13.37:g.47466570T>C	ENSP00000367959:p.Thr190Ala					HTR2A_uc001vbr.3_Missense_Mutation_p.T106A	p.T190A	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	2	1257	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	190					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.568A>G	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090423	0.36855	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.37235	1.21;1.21;1.21	6.16	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.051509	0.85682	D	0.000000	T	0.24586	0.0596	N	0.21448	0.665	0.50039	D	0.999847	B;B	0.17667	0.007;0.023	B;B	0.22880	0.026;0.042	T	0.06267	-1.0836	10	0.20046	T	0.44	.	12.1905	0.54268	0.0:0.0762:0.0:0.9238	.	106;190	F5GWE8;P28223	.;5HT2A_HUMAN	A	190;106;190	ENSP00000367959:T190A;ENSP00000441861:T106A;ENSP00000437737:T190A	ENSP00000367959:T190A	T	-	1	0	HTR2A	46364571	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.732000	0.47352	2.367000	0.80283	0.528000	0.53228	ACT		0.493	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		C	47466570	T	C	47466570	3	2	46	1	0	0	0	0	1	0	0	0	7441	1725	60	4	855	4	HTR2A	13	47466570	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		47466570	67703308	50	2975											
DIS3	22894	broad.mit.edu	37	chr13	73355005	73355005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgctcattagtgaaaGtatagaaatgcttctcttgg	11	15	10	5	0	2	2	1	1	1	1	3	2	2	2	0	2	2	3	0	2	6	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:73355005G>A	ENST00000377767.4	-	2	465	c.365C>T	c.(364-366)aCt>aTt	p.T122I	DIS3_ENST00000545453.1_5'UTR|DIS3_ENST00000475871.1_5'UTR|PIBF1_ENST00000326291.6_5'Flank|DIS3_ENST00000377780.4_Intron	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	122	PINc.				CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTAGTGAAAGTATAGAAATG	0.388										Multiple Myeloma(4;0.011)																												uc001vix.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(364-366)aCt>aTt		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.							148	144	146					13																	73355005		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73355005G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.365C>T	13.37:g.73355005G>A	ENSP00000366997:p.Thr122Ile	Multiple Myeloma(4;0.011)				PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.3_5'Flank|PIBF1_uc001vjc.3_5'Flank|PIBF1_uc010aep.3_5'Flank|DIS3_uc001viy.4_Intron|DIS3_uc001viz.3_Non-coding_Transcript	p.T122I	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	1	739	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	122			PINc.		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.365C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363341	0.82353	.	.	ENSG00000083520	ENST00000377767	T	0.21734	1.99	5.7	5.7	0.88788	Nucleotide binding protein, PINc (1);	0.457656	0.27891	N	0.017423	T	0.27594	0.0678	L	0.52126	1.63	0.80722	D	1	B	0.26318	0.146	B	0.30716	0.119	T	0.02829	-1.1105	10	0.54805	T	0.06	.	19.9129	0.97029	0.0:0.0:1.0:0.0	.	122	Q9Y2L1	RRP44_HUMAN	I	122	ENSP00000366997:T122I	ENSP00000366997:T122I	T	-	2	0	DIS3	72253006	1.000000	0.71417	0.955000	0.39395	0.962000	0.63368	9.814000	0.99346	2.716000	0.92895	0.644000	0.83932	ACT		0.388	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		A	73355005	G	A	73355005	3	1	46	1	0	0	0	0	1	0	0	0	4535	1029	36	3	2591	3	DIS3	13	73355005	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	25888435	73355005	41814873	51	2976											
KIAA0430	9665	broad.mit.edu	37	chr16	15692768	15692768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagattggaggataaCggggtctggtctcagctgag	10	9	15	7	1	3	2	2	1	2	1	4	4	3	4	0	5	3	2	0	5	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:15692768C>T	ENST00000396368.3	-	26	5133	c.4927G>A	c.(4927-4929)Gtt>Att	p.V1643I	KIAA0430_ENST00000344181.3_Missense_Mutation_p.V1331I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V1640I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V1478I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V1640I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1643I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1643					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGAGGATAACGGGGTCTGGT	0.592																																						uc002ddr.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(4927-4929)Gtt>Att		Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.							66	74	71					16																	15692768		2010	4175	6185	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15692768C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4927G>A	16.37:g.15692768C>T	ENSP00000379654:p.Val1643Ile					KIAA0430_uc002ddq.3_Missense_Mutation_p.V1477I|KIAA0430_uc010uzv.2_Missense_Mutation_p.V1640I|KIAA0430_uc010uzw.2_Missense_Mutation_p.V1643I	p.V1643I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			25	5134	-			1642					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.4927G>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921896	0.73213	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.38	5.38	0.77491	.	0.062472	0.64402	D	0.000005	T	0.60689	0.2288	L	0.34521	1.04	0.28041	N	0.933764	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.991;0.996;0.996;0.979	T	0.56220	-0.8015	9	0.52906	T	0.07	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	1642;1640;1639;1642	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	I	1643;1478;1583;1331;1640;1643;1509	.	ENSP00000315718:V1583I	V	-	1	0	KIAA0430	15600269	1.000000	0.71417	0.283000	0.24790	0.300000	0.27592	5.097000	0.64542	2.793000	0.96121	0.655000	0.94253	GTT		0.592	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		T	15692768	C	T	15692768	3	4	46	1	0	0	0	0	1	0	0	0	8177	536	19	1	309	1	KIAA0430	16	15692768	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		15692768	74661985	52	2977											
VPS35	55737	broad.mit.edu	37	chr16	46694426	46694426	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcccctcggattctggTgattcccgccgcaagcgcaa	7	9	11	14	4	1	1	0	1	1	0	3	2	2	2	4	3	1	2	4	3	2	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:46694426T>G	ENST00000299138.7	-	17	2407	c.2349A>C	c.(2347-2349)tcA>tcC	p.S783S	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	783					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CGGATTCTGGTGATTCCCGCC	0.438																																						uc002eef.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2347-2349)tcA>tcC		Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.							103	110	108					16																	46694426		2203	4300	6503	SO:0001819	synonymous_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694426T>G	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2349A>C	16.37:g.46694426T>G						VPS35_uc002eed.3_3'UTR|VPS35_uc002eee.3_Silent_p.S744S	p.S783S	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			16	2448	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	783					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	c.2349A>C	CCDS10721.1																																																																																				0.438	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			G	46694426	T	G	46694426	2	3	46	1	0	0	0	0	0	0	0	1	17200	1683	59	5		5	VPS35	16	46694426	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08	31001658	46694426	43660327	53	2978											
ABCC11	85320	broad.mit.edu	37	chr16	48247385	48247385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcagacttggaattcGtgagacctttgactgcaata	11	12	9	9	1	1	3	1	2	0	2	2	5	1	4	1	1	2	2	1	1	3	4	rs148839428		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:48247385G>A	ENST00000394747.1	-	9	1674	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	ABCC11_ENST00000356608.2_Missense_Mutation_p.T442M|ABCC11_ENST00000537808.1_Missense_Mutation_p.T442M|ABCC11_ENST00000353782.5_Missense_Mutation_p.T442M|ABCC11_ENST00000394748.1_Missense_Mutation_p.T442M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	442	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTTGGAATTCGTGAGACCTTT	0.552																																						uc002eff.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1324-1326)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.							116	94	101					16																	48247385		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48247385G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1325C>T	16.37:g.48247385G>A	ENSP00000378230:p.Thr442Met					ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_Non-coding_Transcript	p.T442M	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			8	1675	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	442			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1325C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438122	0.62955	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92752	-2.91;-2.82;-2.82;-2.82;-3.1	4.25	2.27	0.28462	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.280544	0.34025	N	0.004321	D	0.93229	0.7843	L	0.57536	1.79	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.70487	0.969;0.943	D	0.85468	0.1171	10	0.49607	T	0.09	-3.021	7.1965	0.25855	0.2131:0.0:0.7869:0.0	.	442;442	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	442	ENSP00000311326:T442M;ENSP00000349017:T442M;ENSP00000378231:T442M;ENSP00000378230:T442M;ENSP00000438530:T442M	ENSP00000311326:T442M	T	-	2	0	ABCC11	46804886	0.011000	0.17503	0.006000	0.13384	0.891000	0.51852	0.601000	0.24119	0.372000	0.24591	-0.123000	0.14984	ACG		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48247385	G	A	48247385	3	1	46	1	0	0	0	0	1	0	0	0	51	1145	40	1	2907	1	ABCC11	16	48247385	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1552959	48247385	42107368	54	2979											
CNGB1	1258	broad.mit.edu	37	chr16	57993926	57993926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagggagggggtctcccgGgcctgcagcttgggccccat	4	6	18	13	1	1	0	0	0	1	0	2	1	1	1	4	6	2	3	4	6	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:57993926G>A	ENST00000251102.8	-	10	687	c.627C>T	c.(625-627)gcC>gcT	p.A209A	CNGB1_ENST00000564448.1_Silent_p.A203A|CNGB1_ENST00000311183.4_Silent_p.A209A	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	209	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCTCCCGGGCCTGCAGCT	0.687																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(625-627)gcC>gcT		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							8	11	10					16																	57993926		1893	4079	5972	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57993926G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.627C>T	16.37:g.57993926G>A						CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A	p.A209A	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			9	692	-			209			Pro-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.627C>T	CCDS42169.1																																																																																				0.687	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57993926	G	A	57993926	2	1	46	1	0	0	0	0	0	0	0	1	3600	1219	43	3		3	CNGB1	16	57993926	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	9746541	57993926	32360827	55	2980											
SMTNL2	342527	broad.mit.edu	37	chr17	4496362	4496362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtctctgacaggttctctgGggagacctcagctgcggctc	6	10	13	12	1	3	2	1	1	2	1	6	3	3	2	1	4	2	3	1	4	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:4496362G>A	ENST00000389313.4	+	3	693	c.626G>A	c.(625-627)gGg>gAg	p.G209E	SMTNL2_ENST00000338859.4_Missense_Mutation_p.G65E	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	209										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGGTTCTCTGGGGAGACCTCA	0.657																																						uc002fyf.1																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(625-627)gGg>gAg		Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.							67	68	68					17																	4496362		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4496362G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.626G>A	17.37:g.4496362G>A	ENSP00000373964:p.Gly209Glu					SMTNL2_uc002fye.2_Missense_Mutation_p.G65E	p.G209E	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	2	693	+			209					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.626G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098820	0.76870	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82081	-1.57;-1.53	5.4	5.4	0.78164	.	.	.	.	.	T	0.79299	0.4422	M	0.61703	1.905	0.48185	D	0.999607	P	0.44090	0.826	B	0.35114	0.196	T	0.81662	-0.0831	9	0.49607	T	0.09	-40.9141	15.0609	0.71951	0.0:0.0:1.0:0.0	.	209	Q2TAL5	SMTL2_HUMAN	E	65;209	ENSP00000345143:G65E;ENSP00000373964:G209E	ENSP00000345143:G65E	G	+	2	0	SMTNL2	4443111	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.975000	0.63777	2.722000	0.93159	0.655000	0.94253	GGG		0.657	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		A	4496362	G	A	4496362	3	1	46	1	0	0	0	0	1	0	0	0	14816	1232	43	3	636	3	SMTNL2	17	4496362	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		4496362	76698848	56	2981											
TMEM220	388335	broad.mit.edu	37	chr17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagccaacagcccacaccGtacaaaagagtatgtgtatt	15	7	7	12	1	0	1	0	0	0	1	0	1	0	1	4	0	4	3	4	0	7	4	rs201706506		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:10628403G>A	ENST00000341871.3	-	4	676	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_ENST00000578345.1_Missense_Mutation_p.T61M|TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.T61M	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	71						integral component of membrane (GO:0016021)		p.T71M(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448													G|||	1	0.000199681	0	0	5008	,	,		21826	0.001		0	False		,,,				2504	0					uc002gmx.3																			1	Substitution - Missense(1)	p.T71M(2)	prostate(1)	kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(211-213)aCg>aTg		Homo sapiens transmembrane protein 220 (TMEM220), mRNA.							178	153	162					17																	10628403		2203	4300	6503	SO:0001583	missense	388335					integral to membrane		g.chr17:10628403G>A		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.212C>T	17.37:g.10628403G>A	ENSP00000339830:p.Thr71Met					TMEM220_uc002gmy.3_Missense_Mutation_p.T61M	p.T71M	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN			3	690	-			71					A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	37	c.212C>T	CCDS32567.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.012	0.370605	0.11409	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.94	-1.87	0.07737	.	1.511540	0.03430	N	0.207628	T	0.27866	0.0686	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.09377	0.001;0.004	T	0.30031	-0.9992	9	0.40728	T	0.16	-35.6664	11.8497	0.52405	0.4581:0.0:0.5419:0.0	.	61;71	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	M	71;61	.	ENSP00000339830:T71M	T	-	2	0	TMEM220	10569128	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.763000	0.26517	-0.297000	0.08934	-2.048000	0.00412	ACG		0.448	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313		A	10628403	G	A	10628403	3	1	46	1	0	0	0	0	1	0	0	0	16141	1145	40	1	282	1	TMEM220	17	10628403	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	6132041	10628403	70566807	57	2982											
HAP1	9001	broad.mit.edu	37	chr17	39884047	39884047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctggatttccttctcCgaagccagctgcttctgcaa	7	13	8	13	1	3	0	0	0	3	0	5	2	4	1	3	1	5	4	3	1	2	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:39884047C>T	ENST00000310778.5	-	8	1251	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	HAP1_ENST00000341193.5_Intron|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.S414S|HAP1_ENST00000393939.2_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	414	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTCCTTCTCCGAAGCCAGCT	0.622																																						uc002hxm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1240-1242)tcG>tcA		Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.							49	42	44					17																	39884047		2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39884047C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1242G>A	17.37:g.39884047C>T						JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.S414S|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	p.S414S	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		7	1254	-		Breast(137;0.000162)	414			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1242G>A																																																																																					0.622	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		T	39884047	C	T	39884047	2	4	46	1	0	0	0	0	0	0	0	1	6953	639	23	2		2	HAP1	17	39884047	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	29255644	39884047	41311163	58	2983											
MUC16	94025	broad.mit.edu	37	chr19	9071728	9071728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaggtggcactgtggactTatcatggtctggggtggaaa	8	11	16	6	0	3	0	2	0	1	0	3	2	3	2	0	7	0	1	0	7	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:9071728T>C	ENST00000397910.4	-	3	15921	c.15718A>G	c.(15718-15720)Aag>Gag	p.K5240E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5242	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGTGGACTTATCATGGTCT	0.478																																						uc002mkp.3																			0		p.D5239N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15718-15720)Aag>Gag		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							173	170	171					19																	9071728		2004	4171	6175	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071728T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15718A>G	19.37:g.9071728T>C	ENSP00000381008:p.Lys5240Glu						p.K5240E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	15922	-			5242			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15718A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.917	-0.018836	0.07681	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.94	-2.84	0.05751	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.23650	0.089	B	0.09377	0.004	T	0.44513	-0.9323	8	0.87932	D	0	.	4.6404	0.12545	0.0:0.177:0.5165:0.3065	.	5240	B5ME49	.	E	5240	ENSP00000381008:K5240E	ENSP00000381008:K5240E	K	-	1	0	MUC16	8932728	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.264000	0.08658	-0.628000	0.05582	-0.486000	0.04755	AAG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9071728	T	C	9071728	3	2	46	1	0	0	0	0	1	0	0	0	9973	1763	61	4	28133	4	MUC16	19	9071728	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		9071728	50057255	59	2984											
CD22	933	broad.mit.edu	37	chr19	35832284	35832285	+	Frame_Shift_Ins	INS	-	-	T																															ggtccggaaaatcaagccccINStttccgagattcactctgga																										TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:35832284_35832285insT	ENST00000085219.5	+	8	1612_1613	c.1546_1547insT	c.(1546-1548)cttfs	p.L516fs	CD22_ENST00000594250.1_Frame_Shift_Ins_p.L339fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.L428fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.L339fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.L344fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.L516fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.L396fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	516	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AATCAAGCCCCTTTCCGAGATT	0.574																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1546-1548)cttfs		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832284_35832285insT	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1549dupT	19.37:g.35832287_35832287dupT	ENSP00000085219:p.Leu516fs					CD22_uc010edu.3_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.3_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.4_Frame_Shift_Ins_p.L339fs|CD22_uc010xst.2_Frame_Shift_Ins_p.L344fs|CD22_uc010edx.3_Non-coding_Transcript	p.L516fs	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1630_1631	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		516			Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Ins	INS	ENST00000085219.5	37	c.1546_1547insT	CCDS12457.1																																																																																				0.574	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		T	35832285	-	T	35832284	7	5	46	1	0	1	1	0	0	0	0	0	2985	681	24	0	1572	0	CD22	19	35832284	Frame_Shift_Ins	INS	-	TCGA-06-0216-01B-01D-1492-08	26760556	35832284	23296699	60	2985											
GLTSCR2	29997	broad.mit.edu	37	chr19	48259848	48259848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggaatatgatcgagcctCgagagagagccaagtaaggg	14	5	16	6	2	0	3	0	1	0	2	2	8	0	5	2	3	2	1	2	3	4	2	rs141718194		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:48259848C>T	ENST00000246802.5	+	11	1398	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	454				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413). {ECO:0000305}.|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GATCGAGCCTCGAGAGAGAGC	0.632																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1360-1362)Cga>Tga		Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.		C	stop/ARG	0,4406		0,0,2203	43	47	46		1360	3.7	1	19	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GLTSCR2	NM_015710.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		454/479	48259848	1,13005	2203	4300	6503	SO:0001587	stop_gained	29997					nucleolus		g.chr19:48259848C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1360C>T	19.37:g.48259848C>T	ENSP00000246802:p.Arg454*					GLTSCR2_uc010elk.1_Non-coding_Transcript	p.R454*	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	10	1384	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	454	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Nonsense_Mutation	SNP	ENST00000246802.5	37	c.1360C>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045564	0.97231	0.0	1.16E-4	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	.	.	.	4.79	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3043	9.7472	0.40453	0.2059:0.794:0.0:0.0	.	.	.	.	X	454;448;239	.	ENSP00000246802:R454X	R	+	1	2	GLTSCR2	52951660	0.832000	0.29368	0.989000	0.46669	0.804000	0.45430	1.386000	0.34419	2.657000	0.90304	0.655000	0.94253	CGA		0.632	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		T	48259848	C	T	48259848	4	4	46	1	0	0	0	0	0	1	0	0	6475	876	31	2	1402	2	GLTSCR2	19	48259848	Nonsense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	12427564	48259848	10869135	61	2986											
NLRP12	91662	broad.mit.edu	37	chr19	54304629	54304629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgtcacaggcagcagCagtgaggcggcagatcttca	10	6	13	12	2	3	2	2	1	1	1	4	2	3	2	0	3	3	5	0	3	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:54304629C>T	ENST00000324134.6	-	7	2776	c.2608G>A	c.(2608-2610)Gct>Act	p.A870T	NLRP12_ENST00000345770.5_Missense_Mutation_p.A871T|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.A871T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A870T|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.A870T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	870					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGGCAGCAGCAGTGAGGCGG	0.493																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2611-2613)Gct>Act		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							55	49	51					19																	54304629		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54304629C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2608G>A	19.37:g.54304629C>T	ENSP00000319377:p.Ala870Thr					NLRP12_uc010eqw.3_Missense_Mutation_p.A153T|NLRP12_uc002qch.4_Missense_Mutation_p.A870T|NLRP12_uc002qci.4_Missense_Mutation_p.A870T|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron	p.A871T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	6	2831	-	Ovarian(34;0.19)		870					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2611G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337368	0.24253	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.45	-4.5	0.03493	.	0.706457	0.11601	U	0.547782	T	0.35566	0.0936	L	0.58428	1.81	0.09310	N	1	P;P;P;B	0.48640	0.913;0.745;0.565;0.227	P;B;B;B	0.47044	0.535;0.276;0.2;0.142	T	0.29549	-1.0008	10	0.35671	T	0.21	.	4.2515	0.10696	0.4219:0.2905:0.2176:0.0701	.	153;870;870;870	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	870;870;153;870;871;871	ENSP00000319377:A870T;ENSP00000438030:A870T;ENSP00000375655:A870T;ENSP00000375653:A871T	ENSP00000319377:A870T	A	-	1	0	NLRP12	58996441	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.150000	0.16263	-0.178000	0.10672	-0.346000	0.07831	GCT		0.493	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54304629	C	T	54304629	3	4	46	1	0	0	0	0	1	0	0	0	10474	710	25	3	593	3	NLRP12	19	54304629	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	6044781	54304629	4824354	62	2987											
WFDC13	164237	broad.mit.edu	37	chr20	44334525	44334525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacaagggctcagaagTcatcatgcctgccaactgag	14	6	9	12	0	3	2	3	1	0	1	3	2	3	2	2	1	4	1	2	1	4	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr20:44334525T>C	ENST00000305479.2	+	3	371	c.263T>C	c.(262-264)gTc>gCc	p.V88A	MIR3617_ENST00000577518.1_RNA|WFDC10B_ENST00000330523.5_5'Flank|WFDC10B_ENST00000335769.2_5'Flank	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	88						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				GGCTCAGAAGTCATCATGCCT	0.353																																						uc002xpd.3																			0				skin(1)|upper_aerodigestive_tract(1)	2						c.(262-264)gTc>gCc		Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA.							109	101	104					20																	44334525		2203	4300	6503	SO:0001583	missense	164237					extracellular region	peptidase inhibitor activity	g.chr20:44334525T>C	AF454505	CCDS13367.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000168634	ENSG00000168634		"WAP four-disulfide core domain containing"	16131	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 138"	C20orf138		12206714	Standard	NM_172005		Approved	dJ601O1.3, WAP13	uc002xpd.3	Q8IUB5	OTTHUMG00000046333	ENST00000305479.2:c.263T>C	20.37:g.44334525T>C	ENSP00000302938:p.Val88Ala					WFDC10B_uc002xpb.3_5'Flank|WFDC10B_uc002xpc.3_5'Flank	p.V88A	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN			2	371	+		Myeloproliferative disorder(115;0.0122)	88					Q5TEU7|Q8WWK7	Missense_Mutation	SNP	ENST00000305479.2	37	c.263T>C	CCDS13367.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420721	0.25639	.	.	ENSG00000168634	ENST00000305479	T	0.49139	0.79	2.86	-1.9	0.07665	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.09310	N	1	B	0.22983	0.078	B	0.17433	0.018	T	0.18587	-1.0332	8	0.36615	T	0.2	.	0.1789	0.00121	0.3603:0.2287:0.1499:0.2611	.	88	Q8IUB5	WFD13_HUMAN	A	88	ENSP00000302938:V88A	ENSP00000302938:V88A	V	+	2	0	WFDC13	43767939	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.861000	0.01654	-0.380000	0.07894	0.402000	0.26972	GTC		0.353	WFDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106946.1			C	44334525	T	C	44334525	3	2	46	1	0	0	0	0	1	0	0	0	17348	1667	58	4	273	4	WFDC13	20	44334525	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		44334525	18690995	63	2988											
KLHL15	80311	broad.mit.edu	37	chrX	24006559	24006559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgaggtgattccacCggtgataaacaatttgttat	13	12	11	5	1	0	4	0	3	0	1	1	5	1	5	2	3	1	1	2	3	5	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:24006559C>T	ENST00000328046.8	-	4	1549	c.1294G>A	c.(1294-1296)Ggt>Agt	p.G432S		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	432					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTGATTCCACCGGTGATAAAC	0.443																																						uc004dba.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(1294-1296)Ggt>Agt		Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.							167	137	147					X																	24006559		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006559C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1294G>A	X.37:g.24006559C>T	ENSP00000332791:p.Gly432Ser						p.G432S	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			3	1550	-			432					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1294G>A	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890845	0.72524	.	.	ENSG00000174010	ENST00000328046	D	0.82619	-1.63	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94206	0.7454	10	0.87932	D	0	.	18.6167	0.91305	0.0:1.0:0.0:0.0	.	432	Q96M94	KLH15_HUMAN	S	432	ENSP00000332791:G432S	ENSP00000332791:G432S	G	-	1	0	KLHL15	23916480	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.132000	0.77251	2.426000	0.82243	0.506000	0.49869	GGT		0.443	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		T	24006559	C	T	24006559	3	4	46	1	0	0	0	0	1	0	0	0	8371	652	23	2	524	2	KLHL15	23	24006559	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		24006559	131264001	64	2989											
FGD1	2245	broad.mit.edu	37	chrX	54496521	54496521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcgtcGtcctcctcctccaggtcact	2	14	4	21	2	2	0	1	0	1	0	12	0	10	0	8	1	0	0	8	1	0	1	rs374074159		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:54496521G>A	ENST00000375135.3	-	4	1762	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	343					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcgtcgtcctcctcct	0.627																																						uc004dtg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1027-1029)gaC>gaT		Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.		G		1,3834		0,1,1631,571	33	30	31		1029	-2.6	1	X		31	0,6728		0,0,2428,1872	no	coding-synonymous	FGD1	NM_004463.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		343/962	54496521	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496521G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1029C>T	X.37:g.54496521G>A						FGD1_uc011moi.1_Silent_p.D101D	p.D343D	NM_004463	NP_004454	P98174	FGD1_HUMAN			3	1763	-			343					Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.1029C>T	CCDS14359.1																																																																																				0.627	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		A	54496521	G	A	54496521	2	1	46	1	0	0	0	0	0	0	0	1	5832	1136	40	1		1	FGD1	23	54496521	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	30489962	54496521	100774039	65	2990											
ZMYM3	9203	broad.mit.edu	37	chrX	70467290	70467290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggttgcagaaatgaCggatctgcccacgccagtgg	9	8	13	11	2	1	2	0	1	1	1	1	3	1	3	2	3	3	3	2	3	1	1	rs372250348		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:70467290C>T	ENST00000353904.2	-	13	2406	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	ZMYM3_ENST00000373998.1_Missense_Mutation_p.R740H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R740H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R742H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R742H|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	740					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGAAATGACGGATCTGCCC	0.582																																						uc004dzh.2																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2218-2220)cGt>cAt		Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	63	49	54		2219,2219,2219	5.2	1	X		54	1,6727		0,1,2427,1872	no	missense,missense,missense	ZMYM3	NM_001171162.1,NM_005096.3,NM_201599.2	29,29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging	740/1359,740/1371,740/1371	70467290	1,10562	2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70467290C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2219G>A	X.37:g.70467290C>T	ENSP00000343909:p.Arg740His					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.R740H|ZMYM3_uc004dzj.2_Missense_Mutation_p.R740H	p.R740H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			12	2398	-	Renal(35;0.156)		740					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2219G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.951139	0.92660	0.0	1.49E-4	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.52057	1.3;0.68;1.3;1.28;1.3	5.16	5.16	0.70880	TRASH (1);Zinc finger, MYM-type (1);	0.104953	0.42294	D	0.000736	T	0.41213	0.1149	N	0.19112	0.55	0.36274	D	0.855339	D;D	0.62365	0.989;0.991	P;P	0.54590	0.642;0.756	T	0.52366	-0.8585	10	0.59425	D	0.04	-10.9432	5.3938	0.16259	0.0:0.7418:0.0:0.2582	.	740;740	Q14202-2;Q14202	.;ZMYM3_HUMAN	H	740;740;740;742;742	ENSP00000322845:R740H;ENSP00000363110:R740H;ENSP00000343909:R740H;ENSP00000363096:R742H;ENSP00000363100:R742H	ENSP00000322845:R740H	R	-	2	0	ZMYM3	70384015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.610000	0.67668	2.405000	0.81733	0.529000	0.55759	CGT		0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		T	70467290	C	T	70467290	3	4	46	1	0	0	0	0	1	0	0	0	17698	536	19	1	1945	1	ZMYM3	23	70467290	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	15970769	70467290	84803270	66	2991											
CAPN6	827	broad.mit.edu	37	chrX	110494147	110494147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaattgactcaaacctGgggattctgcaggaaggtat	14	10	11	6	0	2	1	1	1	1	0	2	3	2	3	1	4	2	3	1	4	5	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:110494147G>T	ENST00000324068.1	-	8	1323	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q131K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	386	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.Q386K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTCAAACCTGGGGATTCTGC	0.453																																						uc004epc.2																			1	Substitution - Missense(1)	p.Q386K(2)	lung(1)	cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1156-1158)Cag>Aag		Homo sapiens calpain 6 (CAPN6), mRNA.							170	161	164					X																	110494147		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494147G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1156C>A	X.37:g.110494147G>T	ENSP00000317214:p.Gln386Lys					CAPN6_uc011msu.2_Missense_Mutation_p.Q131K	p.Q386K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			7	1347	-			386			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1156C>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129478	0.77549	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.89875	-2.58;-2.58	5.85	5.85	0.93711	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.287225	0.35495	N	0.003177	D	0.93151	0.7819	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93589	0.6919	10	0.87932	D	0	.	19.0586	0.93078	0.0:0.0:1.0:0.0	.	386	Q9Y6Q1	CAN6_HUMAN	K	386;131	ENSP00000317214:Q386K;ENSP00000441736:Q131K	ENSP00000317214:Q386K	Q	-	1	0	CAPN6	110380803	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	9.422000	0.97458	2.450000	0.82876	0.600000	0.82982	CAG		0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			T	110494147	G	T	110494147	3	4	46	1	0	0	0	0	1	0	0	0	2630	1357	47	5	793	5	CAPN6	23	110494147	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	40026857	110494147	44776413	67	2992											
DDX26B	203522	broad.mit.edu	37	chrX	134714081	134714081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaagttcgaaagtttGgtcgaagtaagtagtgaaag	15	10	14	2	2	0	2	0	2	0	0	2	5	0	3	0	2	0	4	0	2	7	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:134714081G>C	ENST00000370752.4	+	15	2711	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	793										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAAAGTTTGGTCGAAGTAA	0.373																																						uc004eyw.4																			0				large_intestine(1)|lung(8)	9						c.(2377-2379)Ggt>Cgt		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.							57	53	54					X																	134714081		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134714081G>C	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2377G>C	X.37:g.134714081G>C	ENSP00000359788:p.Gly793Arg					DDX26B_uc004eyx.4_Missense_Mutation_p.G394R	p.G793R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			14	2740	+	Acute lymphoblastic leukemia(192;6.56e-05)		793					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2377G>C	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084447	0.76642	.	.	ENSG00000165359	ENST00000370752	T	0.61510	0.1	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.84082	2.675	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82159	-0.0595	10	0.87932	D	0	-14.3882	16.921	0.86164	0.0:0.0:1.0:0.0	.	793;793	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	R	793	ENSP00000359788:G793R	ENSP00000359788:G793R	G	+	1	0	DDX26B	134541747	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.426000	0.80270	2.401000	0.81631	0.600000	0.82982	GGT		0.373	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		C	134714081	G	C	134714081	3	2	46	1	0	0	0	0	1	0	0	0	4353	1348	47	5	2435	5	DDX26B	23	134714081	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	24219934	134714081	20556479	68	2993											
GPR101	83550	broad.mit.edu	37	chrX	136113330	136113330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagcctggccccagccGtagagtggaggagtgctctg	8	6	16	11	1	1	1	0	0	1	1	1	3	1	3	4	4	3	3	4	4	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:136113330G>A	ENST00000298110.1	-	1	503	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCCCAGCCGTAGAGTGGAG	0.607																																						uc011mwh.2																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(502-504)taC>taT		Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.							45	39	41					X																	136113330		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113330G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.504C>T	X.37:g.136113330G>A							p.Y168Y	NM_054021	NP_473362	Q96P66	GP101_HUMAN			0	504	-	Acute lymphoblastic leukemia(192;0.000127)		168					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.504C>T	CCDS14662.1																																																																																				0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			A	136113330	G	A	136113330	2	1	46	1	0	0	0	0	0	0	0	1	6622	1140	40	1		1	GPR101	23	136113330	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	1399249	136113330	19157230	69	2994											
SOX3	6658	broad.mit.edu	37	chrX	139587063	139587063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctcccggggctggagCggccacggtgaaaaggccct	7	4	17	13	4	0	1	0	1	0	0	1	2	1	2	3	7	1	2	3	7	2	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:139587063C>T	ENST00000370536.2	-	1	162	c.163G>A	c.(163-165)Gct>Act	p.A55T		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	55					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGGCTGGAGCGGCCACGGTG	0.667																																						uc004fbd.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(163-165)Gct>Act		Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.							7	7	7					X																	139587063		2125	4153	6278	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139587063C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.163G>A	X.37:g.139587063C>T	ENSP00000359567:p.Ala55Thr						p.A55T	NM_005634	NP_005625	P41225	SOX3_HUMAN			0	163	-	Acute lymphoblastic leukemia(192;7.65e-05)		55					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.163G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	18.23	3.576934	0.65878	.	.	ENSG00000134595	ENST00000370536	D	0.97906	-4.6	4.07	3.13	0.36017	.	.	.	.	.	D	0.92456	0.7605	N	0.19112	0.55	0.21325	N	0.99972	B	0.25955	0.138	B	0.11329	0.006	D	0.85377	0.1117	8	.	.	.	.	6.921	0.24389	0.1884:0.6288:0.1829:0.0	.	55	P41225	SOX3_HUMAN	T	55	ENSP00000359567:A55T	.	A	-	1	0	SOX3	139414729	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	1.001000	0.29783	1.779000	0.52309	0.525000	0.51046	GCT		0.667	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			T	139587063	C	T	139587063	3	4	46	1	0	0	0	0	1	0	0	0	14951	768	27	1	1181	1	SOX3	23	139587063	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	3473733	139587063	15683497	70	2995											
SLITRK2	84631	broad.mit.edu	37	chrX	144906039	144906039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcagatgtgccaaaaccCcatctacatgcagaaggaag	14	6	11	10	0	2	2	1	0	1	2	2	3	2	3	3	2	4	1	3	2	5	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:144906039C>T	ENST00000370490.1	+	1	6351	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P699L|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P699L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P699L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P699L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	699					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAAAACCCCATCTACATG	0.478																																						uc022cfn.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2095-2097)cCc>cTc		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.							71	70	70					X																	144906039		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906039C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2096C>T	X.37:g.144906039C>T	ENSP00000359521:p.Pro699Leu					SLITRK2_uc004fcd.3_Missense_Mutation_p.P699L|SLITRK2_uc010nsp.3_Missense_Mutation_p.P699L|SLITRK2_uc010nso.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.2_Missense_Mutation_p.P699L|SLITRK2_uc011mws.2_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.2_Missense_Mutation_p.P699L|CXorf1_uc004fch.3_5'Flank	p.P699L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	2096	+	Acute lymphoblastic leukemia(192;6.56e-05)		699					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2096C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071021	0.76301	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.60548	0.34;0.18;0.18;0.18;0.18;0.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	T	0.76732	-0.2851	10	0.72032	D	0.01	-7.69	15.3882	0.74718	0.0:1.0:0.0:0.0	.	699	Q9H156	SLIK2_HUMAN	L	699	ENSP00000334374:P699L;ENSP00000411681:P699L;ENSP00000359521:P699L;ENSP00000397015:P699L;ENSP00000407347:P699L;ENSP00000412010:P699L	ENSP00000334374:P699L	P	+	2	0	SLITRK2	144713731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.224000	0.72417	0.513000	0.50165	CCC		0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144906039	C	T	144906039	3	4	46	1	0	0	0	0	1	0	0	0	14743	623	22	3	2098	3	SLITRK2	23	144906039	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	5318976	144906039	10364521	71	2996											
GPR50	9248	broad.mit.edu	37	chrX	150348278	150348278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtctctctgtggccgatAtgctggtggccatctaccca	6	12	10	13	1	4	0	1	0	3	0	5	1	4	0	3	3	2	1	3	3	2	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:150348278A>G	ENST00000218316.3	+	2	292	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	75					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGCCGATATGCTGGTGGC	0.507																																						uc010ntg.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(223-225)Atg>Gtg		Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.							316	307	310					X																	150348278		2137	4227	6364	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348278A>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.223A>G	X.37:g.150348278A>G	ENSP00000218316:p.Met75Val					GPR50_uc011myc.2_Missense_Mutation_p.M75V	p.M75V	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	361	+	Acute lymphoblastic leukemia(192;6.56e-05)		75					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.223A>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	A	3.869	-0.028345	0.07589	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.36699	1.24	4.26	-0.0614	0.13785	GPCR, rhodopsin-like superfamily (1);	0.124501	0.56097	D	0.000029	T	0.18923	0.0454	L	0.29908	0.895	0.31278	N	0.690901	B;B	0.06786	0.0;0.001	B;B	0.15052	0.001;0.012	T	0.04991	-1.0913	10	0.39692	T	0.17	-1.3497	1.2238	0.01929	0.3863:0.3289:0.1129:0.1719	.	28;75	F5H1S3;Q13585	.;MTR1L_HUMAN	V	28;75	ENSP00000218316:M75V	ENSP00000218316:M75V	M	+	1	0	GPR50	150098936	0.690000	0.27699	0.013000	0.15412	0.140000	0.21249	1.090000	0.30902	0.034000	0.15491	0.425000	0.28330	ATG		0.507	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		G	150348278	A	G	150348278	3	3	46	1	0	0	0	0	1	0	0	0	6697	449	16	4	229	4	GPR50	23	150348278	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	5442239	150348278	4922282	72	2997											
OR2M4	26245	broad.mit.edu	37	chr1	248402311	248402311	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcccacccacaccttcctTttttctctggtcctgggcat	5	14	6	16	0	1	0	0	0	1	0	5	0	4	0	5	2	0	1	5	2	0	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:248402311T>C	ENST00000306687.1	+	1	81	c.81T>C	c.(79-81)ctT>ctC	p.L27L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	27					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACACCTTCCTTTTTTCTCTGG	0.463																																						uc010pzh.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(79-81)ctT>ctC		Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.							135	136	136					1																	248402311		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402311T>C	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.81T>C	1.37:g.248402311T>C							p.L27L	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	81	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		27					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.81T>C	CCDS31108.1																																																																																				0.463	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		C	248402311	T	C	248402311	2	2	47	1	0	0	0	0	0	0	0	1	11012	1828	64	4		4	OR2M4	1	248402311	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		248402311	848310	1	2998											
ZNF672	79894	broad.mit.edu	37	chr1	249142450	249142450	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcgaccgctcggaccTcaccaagcaccggcgcacgc	8	4	10	19	6	2	0	2	0	0	0	3	2	2	1	4	2	2	3	4	2	1	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249142450T>G	ENST00000306562.3	+	4	1723	c.977T>G	c.(976-978)cTc>cGc	p.L326R		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTCGGACCTCACCAAGCAC	0.697																																						uc001iex.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(976-978)cTc>cGc		Homo sapiens zinc finger protein 672 (ZNF672), mRNA.							18	19	19					1																	249142450		2201	4299	6500	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142450T>G	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.977T>G	1.37:g.249142450T>G	ENSP00000421915:p.Leu326Arg					ZNF672_uc021pme.1_Missense_Mutation_p.L326R	p.L326R	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	1672	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	326					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.977T>G	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084724	0.76642	.	.	ENSG00000171161	ENST00000306562	T	0.53640	0.61	3.11	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32753	U	0.005691	T	0.67040	0.2851	M	0.84082	2.675	0.35124	D	0.767358	D	0.89917	1.0	D	0.87578	0.998	T	0.76727	-0.2853	9	.	.	.	.	9.9152	0.41430	0.0:0.0:0.0:1.0	.	326	Q499Z4	ZN672_HUMAN	R	326	ENSP00000421915:L326R	.	L	+	2	0	ZNF672	247109073	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	5.407000	0.66363	1.661000	0.50771	0.459000	0.35465	CTC		0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		G	249142450	T	G	249142450	3	3	47	1	0	0	0	0	1	0	0	0	18076	1551	54	5	979	5	ZNF672	1	249142450	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	740139	249142450	108171	2	2999											
ZNF692	55657	broad.mit.edu	37	chr1	249151478	249151478	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaacaccaacttctccGagtagtatgtggaagggagg	11	8	13	9	2	1	0	0	0	1	0	3	4	1	3	2	4	2	2	2	4	5	3	rs141085159	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249151478G>T	ENST00000306601.4	-	4	596	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000451251.1_Silent_p.R149R|ZNF692_ENST00000366469.5_Silent_p.R144R|ZNF692_ENST00000427146.1_Silent_p.R144R|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Silent_p.R144R	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAACTTCTCCGAGTAGTATGT	0.547																																						uc001ifc.2																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(430-432)Cgg>Agg		Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.							91	93	92					1																	249151478		2203	4300	6503	SO:0001819	synonymous_variant	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151478G>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.430C>A	1.37:g.249151478G>T						ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.R149R|ZNF692_uc001iff.2_Silent_p.R144R	p.R144R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	641	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	144					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	c.430C>A	CCDS31127.1																																																																																				0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		T	249151478	G	T	249151478	2	4	47	1	0	0	0	0	0	0	0	1	18094	1057	37	5		5	ZNF692	1	249151478	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	9028	249151478	99143	3	3000											
HS1BP3	64342	broad.mit.edu	37	chr2	20840922	20840922	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaaactcctcaatctCgctgtactttttggagacct	9	14	7	11	1	2	1	1	0	1	1	4	2	3	1	2	2	2	3	2	2	4	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:20840922C>A	ENST00000304031.3	-	3	242	c.217G>T	c.(217-219)Gag>Tag	p.E73*	HS1BP3_ENST00000402541.1_Nonsense_Mutation_p.E73*|HS1BP3_ENST00000406618.3_Nonsense_Mutation_p.E73*	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCAATCTCGCTGTACTTT	0.547																																						uc002rdw.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(217-219)Gag>Tag		Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.							150	150	150					2																	20840922		2203	4300	6503	SO:0001587	stop_gained	64342				cell communication		phosphatidylinositol binding	g.chr2:20840922C>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.217G>T	2.37:g.20840922C>A	ENSP00000305193:p.Glu73*					HS1BP3_uc002rdx.3_Nonsense_Mutation_p.E73*|HS1BP3_uc002rdy.3_Nonsense_Mutation_p.E73*	p.E73*	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN			2	258	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		73			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Nonsense_Mutation	SNP	ENST00000304031.3	37	c.217G>T	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780995	0.96929	.	.	ENSG00000118960	ENST00000304031;ENST00000402541;ENST00000406618	.	.	.	4.79	4.79	0.61399	.	0.071003	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.771	17.8666	0.88796	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000305193:E73X	E	-	1	0	HS1BP3	20704403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.463000	0.73530	2.210000	0.71456	0.561000	0.74099	GAG		0.547	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		A	20840922	C	A	20840922	4	1	47	1	0	0	0	0	0	1	0	0	7361	893	31	5	981	5	HS1BP3	2	20840922	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		20840922	222358451	4	3001											
SLC4A10	57282	broad.mit.edu	37	chr2	162804208	162804208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcagccaccctgaagcagTtcaagactagcagatatttt	12	11	8	10	0	2	3	2	1	0	2	2	3	2	3	2	0	3	3	2	0	4	5			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:162804208T>C	ENST00000446997.1	+	17	2329	c.2236T>C	c.(2236-2238)Ttc>Ctc	p.F746L	SLC4A10_ENST00000272716.5_Missense_Mutation_p.F716L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F716L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.F727L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.F746L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	746					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCTGAAGCAGTTCAAGACTAG	0.383																																						uc002ubx.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2236-2238)Ttc>Ctc		Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.							199	192	194					2																	162804208		1927	4118	6045	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162804208T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2236T>C	2.37:g.162804208T>C	ENSP00000393066:p.Phe746Leu					SLC4A10_uc010zcs.2_Missense_Mutation_p.F727L|SLC4A10_uc002uby.4_Missense_Mutation_p.F716L	p.F746L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN			16	2420	+			746					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2236T>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278345	0.95459	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.62	5.62	0.85841	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.999;0.943	D	0.89351	0.3661	10	0.66056	D	0.02	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	727;716;746	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	727;716;716;715;746;746;745	ENSP00000364664:F727L;ENSP00000395797:F716L;ENSP00000272716:F716L;ENSP00000393066:F746L;ENSP00000404486:F746L	ENSP00000272716:F716L	F	+	1	0	SLC4A10	162512454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.141000	0.66446	0.460000	0.39030	TTC		0.383	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		C	162804208	T	C	162804208	3	2	47	1	0	0	0	0	1	0	0	0	14651	1725	60	4	2387	4	SLC4A10	2	162804208	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	141963286	162804208	80395165	5	3002											
FGD5	152273	broad.mit.edu	37	chr3	14942566	14942566	+	Frame_Shift_Del	DEL	G	G	-																															ccaacgacagcatggagcaaGgggtgagtgcggcctggcgg																										TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:14942566delG	ENST00000285046.5	+	9	3372	c.3262delG	c.(3262-3264)gggfs	p.G1088fs	FGD5_ENST00000543601.1_Frame_Shift_Del_p.G847fs|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1088					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATGGAGCAAGGGGTGAGTGC	0.642																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3262-3264)gggfs		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							101	103	102					3																	14942566		2098	4237	6335	SO:0001589	frameshift_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14942566delG	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3262delG	3.37:g.14942566delG	ENSP00000285046:p.Gly1088fs					FGD5_uc011avk.2_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.3_Frame_Shift_Del_p.G166fs	p.G1088fs	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			8	3372	+			1088					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Frame_Shift_Del	DEL	ENST00000285046.5	37	c.3262delG	CCDS46767.1																																																																																				0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		-	14942566	G	-	14942566	7	5	47	1	0	1	0	1	0	0	0	0	5836	1000	35	0	3296	0	FGD5	3	14942566	Frame_Shift_Del	DEL	G	TCGA-06-0219-01A-01D-1491-08		14942566	183079864	6	3003											
RPL15	6138	broad.mit.edu	37	chr3	23959481	23959481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggctccccgccccacccGgcctgataaagcgcgccgac	7	3	11	20	5	0	1	0	1	0	0	1	2	1	1	7	2	1	1	7	2	2	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:23959481G>A	ENST00000307839.5	+	2	770	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000435882.1_Missense_Mutation_p.R44Q|NKIRAS1_ENST00000388759.3_5'Flank|RPL15_ENST00000415719.1_Missense_Mutation_p.R44Q|NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000425478.2_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|RPL15_ENST00000354811.5_Missense_Mutation_p.R44Q|RPL15_ENST00000456530.2_Missense_Mutation_p.R44Q|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000437230.1_5'Flank|RPL15_ENST00000413699.1_Missense_Mutation_p.R44Q	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CGCCCCACCCGGCCTGATAAA	0.557																																						uc003ccr.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(130-132)cGg>cAg		Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.							29	33	31					3																	23959481		2202	4297	6499	SO:0001583	missense	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23959481G>A	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"L ribosomal proteins"	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.131G>A	3.37:g.23959481G>A	ENSP00000309334:p.Arg44Gln					NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.R44Q|RPL15_uc011awj.2_Missense_Mutation_p.R44Q|RPL15_uc003ccn.3_Missense_Mutation_p.R44Q|RPL15_uc003cco.3_Missense_Mutation_p.R44Q|RPL15_uc003ccp.3_Missense_Mutation_p.R44Q|RPL15_uc003ccq.3_Missense_Mutation_p.R44Q|RPL15_uc021wub.1_Missense_Mutation_p.R44Q	p.R44Q	NM_001253379	NP_001240308	P61313	RL15_HUMAN			1	524	+			44					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Missense_Mutation	SNP	ENST00000307839.5	37	c.131G>A	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629562	0.67015	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.77	4.9	0.64082	Ribosomal protein L23/L15e (1);	0.000000	0.64402	U	0.000001	T	0.75583	0.3869	H	0.98238	4.18	0.58432	D	0.999999	B;B;P;B	0.47350	0.013;0.132;0.894;0.189	B;B;B;B	0.39027	0.057;0.084;0.288;0.155	D	0.84937	0.0863	9	0.72032	D	0.01	.	14.7898	0.69830	0.0688:0.0:0.9311:0.0	.	44;44;44;44	B4DEN1;B4DLP4;Q642I1;P61313	.;.;.;RL15_HUMAN	Q	44	.	ENSP00000309334:R44Q	R	+	2	0	RPL15	23934485	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	9.805000	0.99149	1.451000	0.47736	-0.142000	0.14014	CGG		0.557	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		A	23959481	G	A	23959481	3	1	47	1	0	0	0	0	1	0	0	0	13562	1116	39	2	133	2	RPL15	3	23959481	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	9016915	23959481	174062949	7	3004											
TRAT1	50852	broad.mit.edu	37	chr3	108568057	108568057	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatgaaagcccgaccaGagaaatctgtaaataagatg	20	6	8	7	1	1	3	0	1	1	2	1	5	1	3	2	0	2	1	2	0	7	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:108568057G>T	ENST00000295756.6	+	5	489	c.259G>T	c.(259-261)Gag>Tag	p.E87*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.E50*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	87					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCCCGACCAGAGAAATCTGT	0.353																																						uc003dxi.1																			0		p.P86R(1)|p.E87D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(259-261)Gag>Tag		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.							82	82	82					3																	108568057		2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568057G>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.259G>T	3.37:g.108568057G>T	ENSP00000295756:p.Glu87*					TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	p.E87*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			4	403	+			87					Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.259G>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	38	6.647658	0.97730	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	.	.	.	5.3	0.797	0.18654	.	0.963342	0.08556	N	0.928268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-27.1728	9.1267	0.36818	0.089:0.5458:0.3652:0.0	.	.	.	.	X	87;50	.	ENSP00000295756:E87X	E	+	1	0	TRAT1	110050747	0.840000	0.29493	0.788000	0.31933	0.917000	0.54804	0.562000	0.23531	0.209000	0.20645	0.557000	0.71058	GAG		0.353	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		T	108568057	G	T	108568057	4	4	47	1	0	0	0	0	0	1	0	0	16463	943	33	5	277	5	TRAT1	3	108568057	Nonsense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	84608576	108568057	89454373	8	3005											
UROC1	131669	broad.mit.edu	37	chr3	126236443	126236443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccactgcttacctgtttCtccacagggctgaggctggg	5	10	13	13	0	1	1	0	1	1	0	2	1	1	1	3	4	2	4	3	4	1	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:126236443C>T	ENST00000290868.2	-	1	173	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UROC1_ENST00000383579.3_Silent_p.E40E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	40					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTACCTGTTTCTCCACAGGGC	0.677																																						uc010hsi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(118-120)gaG>gaA		Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.							28	30	29					3																	126236443		2199	4286	6485	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126236443C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.120G>A	3.37:g.126236443C>T						UROC1_uc003eiz.2_Silent_p.E40E	p.E40E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	0	174	-			40					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.120G>A	CCDS3038.1																																																																																				0.677	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		T	126236443	C	T	126236443	2	4	47	1	0	0	0	0	0	0	0	1	17025	912	32	3		3	UROC1	3	126236443	Silent	SNP	C	TCGA-06-0219-01A-01D-1491-08	17668386	126236443	71785987	9	3006											
CLCN2	1181	broad.mit.edu	37	chr3	184071135	184071135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatgtgctgccgccggCgggctgggctcagctgggcc	2	7	17	15	3	1	0	1	0	0	0	1	0	1	0	4	4	4	5	4	4	0	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:184071135C>T	ENST00000265593.4	-	17	2102	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CLCN2_ENST00000457512.1_Missense_Mutation_p.R644H|CLCN2_ENST00000344937.7_Missense_Mutation_p.R627H|CLCN2_ENST00000434054.2_Missense_Mutation_p.R600H|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	644			R -> C (no effect; dbSNP:rs148545588). {ECO:0000269|PubMed:19191339}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A643>?(2)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCGCCGGCGGGCTGGGCT	0.627																																						uc003foi.3																			2	Complex(2)	p.A643>?(4)	central_nervous_system(2)	breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1930-1932)cGc>cAc		Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	Lubiprostone(DB01046)						37	41	40					3																	184071135		2202	4300	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071135C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1931G>A	3.37:g.184071135C>T	ENSP00000265593:p.Arg644His					CLCN2_uc003foh.3_Missense_Mutation_p.R168H|CLCN2_uc010hya.2_Missense_Mutation_p.R627H|CLCN2_uc011brl.2_Missense_Mutation_p.R644H|CLCN2_uc011brm.2_Missense_Mutation_p.R600H	p.R644H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2055	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		644		R -> C (no effect).			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1931G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	32	5.117080	0.94385	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.62	4.75	0.60458	.	0.051901	0.85682	D	0.000000	D	0.94417	0.8204	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.995;0.999;0.988	D	0.94940	0.8090	10	0.72032	D	0.01	-20.1972	14.1579	0.65428	0.0:0.9272:0.0:0.0728	.	600;644;627;644;600	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	644;627;600;644	ENSP00000265593:R644H;ENSP00000345056:R627H;ENSP00000400425:R600H;ENSP00000391928:R644H	ENSP00000265593:R644H	R	-	2	0	CLCN2	185553829	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.405000	0.80007	1.386000	0.46466	0.563000	0.77884	CGC		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			T	184071135	C	T	184071135	3	4	47	1	0	0	0	0	1	0	0	0	3463	768	27	1	797	1	CLCN2	3	184071135	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	57834692	184071135	13951295	10	3007											
LPP	4026	broad.mit.edu	37	chr3	188327129	188327129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacactcaaaccccagcctCagccagtcccagcctcctac	11	5	5	20	0	2	0	2	0	0	0	4	1	4	0	7	0	6	0	7	0	3	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:188327129C>T	ENST00000312675.4	+	6	856	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Nonsense_Mutation_p.Q204*|LPP_ENST00000448637.1_Nonsense_Mutation_p.Q204*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	204	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCCCAGCCTCAGCCAGTCCC	0.567			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	uc003frs.2				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(610-612)Cag>Tag		Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.							95	95	95					3																	188327129		2203	4300	6503	SO:0001587	stop_gained	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327129C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.610C>T	3.37:g.188327129C>T	ENSP00000318089:p.Gln204*					LPP_uc011bsg.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.2_Nonsense_Mutation_p.Q204*|LPP_uc003frt.3_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.2_Nonsense_Mutation_p.Q41*	p.Q204*	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	5	856	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	204			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Nonsense_Mutation	SNP	ENST00000312675.4	37	c.610C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359004	0.95854	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.638	0.76970	0.0:1.0:0.0:0.0	.	.	.	.	X	204;204;204;41	.	ENSP00000318089:Q204X	Q	+	1	0	LPP	189809823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.598000	0.67585	2.779000	0.95612	0.655000	0.94253	CAG		0.567	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		T	188327129	C	T	188327129	4	4	47	1	0	0	0	0	0	1	0	0	8923	827	29	3	624	3	LPP	3	188327129	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	4255994	188327129	9695301	11	3008											
ZNF518B	85460	broad.mit.edu	37	chr4	10445311	10445311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttatagaaagacttctgGaaagcagtctcccttgctta	12	13	7	9	0	2	2	0	0	2	2	3	3	2	3	1	1	3	2	1	1	6	6			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr4:10445311G>T	ENST00000326756.3	-	3	3080	c.2642C>A	c.(2641-2643)tCc>tAc	p.S881Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	881					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGACTTCTGGAAAGCAGTCT	0.403																																						uc003gmn.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2641-2643)tCc>tAc		Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.							66	69	68					4																	10445311		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445311G>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2642C>A	4.37:g.10445311G>T	ENSP00000317614:p.Ser881Tyr					ZNF518B_uc021xme.1_Missense_Mutation_p.S881Y	p.S881Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			2	3129	-			881					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2642C>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608492	0.14002	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	6.02	3.98	0.46160	.	0.669254	0.14134	N	0.339193	T	0.02342	0.0072	L	0.43152	1.355	0.09310	N	1	B	0.19200	0.034	B	0.16722	0.016	T	0.36187	-0.9758	10	0.59425	D	0.04	-10.5344	9.0605	0.36431	0.0759:0.0:0.6623:0.2617	.	881	Q9C0D4	Z518B_HUMAN	Y	881	ENSP00000317614:S881Y	ENSP00000317614:S881Y	S	-	2	0	ZNF518B	10054409	0.951000	0.32395	0.660000	0.29694	0.131000	0.20780	2.433000	0.44793	1.529000	0.49120	0.655000	0.94253	TCC		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		T	10445311	G	T	10445311	3	4	47	1	0	0	0	0	1	0	0	0	17960	1174	41	5	586	5	ZNF518B	4	10445311	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		10445311	180708965	12	3009											
PRDM9	56979	broad.mit.edu	37	chr5	23527628	23527628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCggggctttagcaataagtca	9	10	16	6	1	2	0	1	0	1	0	2	1	2	1	0	4	2	3	0	4	3	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:23527628C>T	ENST00000296682.3	+	11	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	811					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2431-2433)Cgg>Tgg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							40	50	46					5																	23527628		2149	4270	6419	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527628C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2431C>T	5.37:g.23527628C>T	ENSP00000296682:p.Arg811Trp	HNSCC(3;0.000094)					p.R811W	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	2613	+			811					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2431C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	3.066	-0.192235	0.06259	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	3.02	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20373	0.0490	M	0.72576	2.205	0.20975	N	0.999817	B	0.22800	0.075	B	0.18561	0.022	T	0.26710	-1.0095	9	0.46703	T	0.11	.	3.8662	0.09018	0.4206:0.4551:0.0:0.1244	.	811	Q9NQV7	PRDM9_HUMAN	W	811	ENSP00000296682:R811W	ENSP00000296682:R811W	R	+	1	2	PRDM9	23563385	0.002000	0.14202	0.775000	0.31657	0.007000	0.05969	1.748000	0.38308	0.307000	0.22880	-0.575000	0.04146	CGG		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527628	C	T	23527628	3	4	47	1	0	0	0	0	1	0	0	0	12463	759	27	1	2469	1	PRDM9	5	23527628	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		23527628	157387632	13	3010											
TRIM23	373	broad.mit.edu	37	chr5	64887666	64887666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccttcatacagtcccAtaccacttcgagcatcacag	12	8	4	17	1	2	0	2	0	0	0	4	1	3	0	4	0	4	1	4	0	3	4	rs150920611		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:64887666A>G	ENST00000231524.9	-	11	2026	c.1655T>C	c.(1654-1656)aTg>aCg	p.M552T	TRIM23_ENST00000381018.3_Intron|TRIM23_ENST00000274327.7_Intron	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	552	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATACAGTCCCATACCACTTCG	0.458																																						uc003jty.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1654-1656)aTg>aCg		Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.		A	THR/MET,,	1,4405	2.1+/-5.4	0,1,2202	113	104	107		1655,,	3.2	1	5	dbSNP_134	107	0,8600		0,0,4300	no	missense,intron,intron	TRIM23	NM_001656.3,NM_033227.2,NM_033228.2	81,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,,	552/575,,	64887666	1,13005	2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64887666A>G	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1655T>C	5.37:g.64887666A>G	ENSP00000231524:p.Met552Thr					TRIM23_uc003jtw.3_Intron|TRIM23_uc003jtx.3_Intron	p.M552T	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	10	1741	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	552			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1655T>C	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	A	0.111	-1.138832	0.01742	2.27E-4	0.0	ENSG00000113595	ENST00000231524	T	0.62232	0.04	5.56	3.19	0.36642	.	0.245877	0.52532	D	0.000078	T	0.28732	0.0712	N	0.01464	-0.85	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05533	-1.0879	10	0.13470	T	0.59	.	8.5854	0.33655	0.7779:0.0:0.2221:0.0	.	552	P36406	TRI23_HUMAN	T	552	ENSP00000231524:M552T	ENSP00000231524:M552T	M	-	2	0	TRIM23	64923422	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.347000	0.59373	0.930000	0.37217	-0.441000	0.05720	ATG		0.458	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		G	64887666	A	G	64887666	3	3	47	1	0	0	0	0	1	0	0	0	16494	217	8	4	140	4	TRIM23	5	64887666	Missense_Mutation	SNP	A	TCGA-06-0219-01A-01D-1491-08	41360038	64887666	116027594	14	3011											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834438	101834438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgaggacttcggggtTcccttggccctcctgtcctt	2	13	12	14	2	0	0	0	0	0	0	5	2	3	1	4	5	0	2	4	5	0	5			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:101834438T>C	ENST00000506729.1	-	1	282	c.111A>G	c.(109-111)ggA>ggG	p.G37G	SLCO6A1_ENST00000389019.3_Silent_p.G37G|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Silent_p.G37G|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000379807.3_Silent_p.G37G|SLCO6A1_ENST00000514551.1_5'Flank			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602																																						uc003knn.3																			0		p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(109-111)ggA>ggG		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							111	126	121					5																	101834438		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834438T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.111A>G	5.37:g.101834438T>C						SLCO6A1_uc003kno.3_Silent_p.G37G|SLCO6A1_uc003knp.3_Silent_p.G37G|SLCO6A1_uc003knq.3_Silent_p.G37G	p.G37G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	0	283	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	37					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.111A>G	CCDS34206.1																																																																																				0.602	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		C	101834438	T	C	101834438	2	2	47	1	0	0	0	0	0	0	0	1	14732	1770	62	4		4	SLCO6A1	5	101834438	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08	36946772	101834438	79080822	15	3012											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719925	140719925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactccacctacattcccGaaaacaaccccagaggagcc	13	5	5	18	1	0	1	0	0	0	1	2	3	2	2	7	1	5	0	7	1	5	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:140719925G>A	ENST00000394576.2	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.562																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1387-1389)Gaa>Aaa		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							98	109	105					5																	140719925		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719925G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1387G>A	5.37:g.140719925G>A	ENSP00000378077:p.Glu463Lys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E463K	p.E463K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1572	+			465			Cadherin 5.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1387G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.07	3.019215	0.54576	.	.	ENSG00000081853	ENST00000394576	T	0.76316	-1.01	5.3	4.43	0.53597	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000818	D	0.93871	0.8039	H	0.99922	4.955	0.36032	D	0.839478	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98470	1.0600	10	0.87932	D	0	.	14.0758	0.64889	0.0738:0.0:0.9262:0.0	.	463;463	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	463	ENSP00000378077:E463K	ENSP00000378077:E463K	E	+	1	0	PCDHGA2	140700109	1.000000	0.71417	0.771000	0.31576	0.004000	0.04260	9.799000	0.99117	1.370000	0.46153	-0.150000	0.13652	GAA		0.562	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140719925	G	A	140719925	3	1	47	1	0	0	0	0	1	0	0	0	11554	1059	37	2	1389	2	PCDHGA2	5	140719925	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	38885487	140719925	40195335	16	3013											
COL11A2	1302	broad.mit.edu	37	chr6	33152017	33152017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgtaatcgtagggccCttcaggggggtctgtgccac	7	10	15	9	1	2	0	1	0	1	0	3	0	2	0	2	5	1	2	2	5	3	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33152017C>A	ENST00000341947.2	-	8	1251	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G295W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G316W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G321W|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000395197.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	342	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCGTAGGGCCCTTCAGGGGGG	0.612																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1024-1026)Ggg>Tgg		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							65	66	66					6																	33152017		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33152017C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1024G>T	6.37:g.33152017C>A	ENSP00000339915:p.Gly342Trp					COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	p.G342W	NM_080680	NP_542411	P13942	COBA2_HUMAN			7	1252	-			342			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000341947.2	37	c.1024G>T		.	.	.	.	.	.	.	.	.	.	C	16.30	3.085622	0.55861	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.90955	-2.41;-2.55;-2.57;-2.39;-2.76	3.74	3.74	0.42951	.	0.552403	0.16544	N	0.209784	D	0.90075	0.6900	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.89953	0.4081	10	0.59425	D	0.04	.	11.3108	0.49362	0.0:1.0:0.0:0.0	.	342	P13942	COBA2_HUMAN	W	342;321;316;295;342	ENSP00000339915:G342W;ENSP00000350079:G321W;ENSP00000363846:G316W;ENSP00000363845:G295W;ENSP00000405520:G342W	ENSP00000339915:G342W	G	-	1	0	COL11A2	33259995	0.992000	0.36948	0.998000	0.56505	0.874000	0.50279	2.157000	0.42320	2.360000	0.80028	0.549000	0.68633	GGG		0.612	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				A	33152017	C	A	33152017	3	1	47	1	0	0	0	0	1	0	0	0	3668	681	24	5	4422	5	COL11A2	6	33152017	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		33152017	137963050	17	3014											
C6orf167	253714	broad.mit.edu	37	chr6	97702431	97702431	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaaaaaatgaagtcttAccatttcatctggtactcca	13	16	4	8	0	3	1	1	1	2	0	4	1	4	1	2	1	2	1	2	1	6	6			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:97702431A>C	ENST00000275053.4	-	10	1385		c.e10+1		MMS22L_ENST00000369251.2_Splice_Site	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein						double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGAAGTCTTACCATTTCATC	0.313																																						uc003ppb.3																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.e10+1		Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.							65	65	65					6																	97702431		2203	4300	6503	SO:0001630	splice_region_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97702431A>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1119+1T>G	6.37:g.97702431A>C						MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Splice_Site_p.M373_splice|MMS22L_uc010kcn.1_Splice_Site_p.M147_splice|MMS22L_uc003ppc.3_Missense_Mutation_p.V374G	p.M373_splice	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN			10	1385	-			373					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Splice_Site	SNP	ENST00000275053.4	37	c.1119_splice	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435602	0.62955	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.178	0.59639	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMS22L	97809152	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	6.452000	0.73485	1.852000	0.53769	0.533000	0.62120	.		0.313	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	Intron	C	97702431	A	C	97702431	5	2	47	1	0	0	0	0	0	0	1	0	2342	405	14	5	2674	5	C6orf167	6	97702431	Splice_Site	SNP	A	TCGA-06-0219-01A-01D-1491-08	64550414	97702431	73412636	18	3015											
RSBN1L	222194	broad.mit.edu	37	chr7	77408002	77408002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgtatgcagtttagcatgGcatattcggctcaaattata	11	14	9	7	1	1	0	1	0	0	0	2	0	1	0	0	2	2	7	0	2	6	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:77408002G>A	ENST00000334955.8	+	8	2085	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*	RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.W416*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	686						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTAGCATGGCATATTCGGC	0.388																																						uc010ldt.1																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2056-2058)tgG>tgA		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							154	144	147					7																	77408002		1960	4159	6119	SO:0001587	stop_gained	222194					nucleus		g.chr7:77408002G>A	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2058G>A	7.37:g.77408002G>A	ENSP00000334040:p.Trp686*						p.W686*	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			7	2102	+			686					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Nonsense_Mutation	SNP	ENST00000334955.8	37	c.2058G>A	CCDS43607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.435462|5.435462	0.96150|0.96150	.|.	.|.	ENSG00000187257|ENSG00000187257	ENST00000441514|ENST00000334955;ENST00000445288	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48409|.	0.1498|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36986|.	-0.9725|.	5|.	0.87932|0.02654	D|T	0|1	-7.0506|-7.0506	20.1466|20.1466	0.98079|0.98079	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	158|686;416	.|.	ENSP00000405231:A158T|ENSP00000334040:W686X	A|W	+|+	1|3	0|0	RSBN1L|RSBN1L	77245938|77245938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.807000|9.807000	0.99171|0.99171	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GCA|TGG		0.388	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		A	77408002	G	A	77408002	4	1	47	1	0	0	0	0	0	1	0	0	13697	1212	42	3	2088	3	RSBN1L	7	77408002	Nonsense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		77408002	81730661	19	3016											
TSGA13	114960	broad.mit.edu	37	chr7	130365809	130365809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatggactgtgtaatgcCgaaggttctctagaacaaat	12	12	11	6	1	1	1	0	0	1	1	2	4	1	3	1	3	2	2	1	3	5	4	rs571780213		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:130365809C>T	ENST00000456951.1	-	5	1000	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TSGA13_ENST00000356588.3_Missense_Mutation_p.R50Q			Q96PP4	TSG13_HUMAN	testis specific, 13	50										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGTGTAATGCCGAAGGTTCTC	0.433													C|||	1	0.000199681	0	0	5008	,	,		21535	0		0	False		,,,				2504	0.001					uc003vqi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(148-150)cGg>cAg		Homo sapiens testis specific, 13 (TSGA13), mRNA.							158	142	147					7																	130365809		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130365809C>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.149G>A	7.37:g.130365809C>T	ENSP00000406047:p.Arg50Gln					TSGA13_uc003vqj.3_Missense_Mutation_p.R50Q	p.R50Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			3	606	-	Melanoma(18;0.0435)		50					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.149G>A	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392765	0.25118	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	5.04	-4.69	0.03299	.	2.006330	0.02791	N	0.122085	T	0.27933	0.0688	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.18366	-1.0339	9	0.30078	T	0.28	0.516	8.1448	0.31104	0.0:0.5952:0.1405:0.2643	.	50	Q96PP4	TSG13_HUMAN	Q	50	.	ENSP00000348996:R50Q	R	-	2	0	TSGA13	130016349	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.920000	0.00694	-0.546000	0.06216	-0.484000	0.04775	CGG		0.433	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		T	130365809	C	T	130365809	3	4	47	1	0	0	0	0	1	0	0	0	16616	652	23	2	698	2	TSGA13	7	130365809	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	52957807	130365809	28772854	20	3017											
MLL3	58508	broad.mit.edu	37	chr7	151962220	151962220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccatgatagtgctgacCacaagtagtacaaaagaact	16	9	7	9	0	0	3	0	2	0	1	1	3	1	3	2	0	3	3	2	0	7	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:151962220C>A	ENST00000262189.6	-	8	1305	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	KMT2C_ENST00000355193.2_Missense_Mutation_p.G363C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	363					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAGTGCTGACCACAAGTAGTA	0.448																																						uc003wla.3										N							medulloblastoma		0		p.C362*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(1087-1089)Ggt>Tgt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							332	299	310					7																	151962220		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962220C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1087G>T	7.37:g.151962220C>A	ENSP00000262189:p.Gly363Cys						p.G363C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1306	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	363					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1087G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137088	0.37728	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98937	-5.25;-5.25	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42548	U	0.000694	D	0.98972	0.9650	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1115	10	0.87932	D	0	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	363	Q8NEZ4	MLL3_HUMAN	C	363	ENSP00000262189:G363C;ENSP00000347325:G363C	ENSP00000262189:G363C	G	-	1	0	MLL3	151593153	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GGT		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151962220	C	A	151962220	3	1	47	1	0	0	0	0	1	0	0	0	9622	594	21	5	13856	5	MLL3	7	151962220	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	21596411	151962220	7176443	21	3018											
ADAM7	8756	broad.mit.edu	37	chr8	24339684	24339684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttaaacatccatgtgacGttggttggcattgaaatatg	12	13	9	7	1	0	2	0	2	0	0	1	2	1	2	2	2	1	3	2	2	4	5	rs147649440	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:24339684G>A	ENST00000175238.6	+	9	818	c.735G>A	c.(733-735)acG>acA	p.T245T	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.T245T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.T17T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCCATGTGACGTTGGTTGGCA	0.303													G|||	4	0.000798722	0.003	0	5008	,	,		18057	0		0	False		,,,				2504	0					uc003xeb.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(733-735)acG>acA		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.		G		7,4399	11.4+/-27.6	0,7,2196	95	92	93		735	-10.4	0.8	8	dbSNP_134	93	0,8598		0,0,4299	no	coding-synonymous	ADAM7	NM_003817.2		0,7,6495	AA,AG,GG		0.0,0.1589,0.0538		245/755	24339684	7,12997	2203	4299	6502	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24339684G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.735G>A	8.37:g.24339684G>A						ADAM7_uc003xec.3_Silent_p.T17T	p.T245T	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	8	848	+		Prostate(55;0.0181)	245			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.735G>A	CCDS6045.1																																																																																				0.303	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24339684	G	A	24339684	2	1	47	1	0	0	0	0	0	0	0	1	251	1132	40	1		1	ADAM7	8	24339684	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08		24339684	122024338	22	3019											
OPRK1	4986	broad.mit.edu	37	chr8	54163341	54163341	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgtccccgcgctcacCggatgatcacgaacatgacc	8	7	10	16	5	2	2	2	2	0	0	3	4	3	3	4	1	2	2	4	1	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:54163341C>T	ENST00000265572.3	-	2	554	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	OPRK1_ENST00000520287.1_Splice_Site_p.R86Q	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	86					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCGCGCTCACCGGATGATCAC	0.682																																						uc003xrh.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.e1+1		Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						35	30	32					8																	54163341		2201	4299	6500	SO:0001630	splice_region_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54163341C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.257+1G>A	8.37:g.54163341C>T						OPRK1_uc022aup.1_Splice_Site|OPRK1_uc003xri.1_Splice_Site_p.R86_splice|OPRK1_uc010lyc.1_Splice_Site	p.R86_splice	NM_000912	NP_000903	P41145	OPRK_HUMAN			1	632	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	86					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.257_splice	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784167	0.96937	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.40756	1.02;1.02	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70353	-0.4895	9	.	.	.	.	16.4083	0.83698	0.0:1.0:0.0:0.0	.	86	P41145	OPRK_HUMAN	Q	86;86;72	ENSP00000265572:R86Q;ENSP00000429706:R86Q	.	R	-	2	0	OPRK1	54325894	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.090000	0.76916	2.638000	0.89438	0.462000	0.41574	CGA		0.682	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		Missense_Mutation	T	54163341	C	T	54163341	5	4	47	1	0	0	0	0	0	0	1	0	10885	666	23	2	897	2	OPRK1	8	54163341	Splice_Site	SNP	C	TCGA-06-0219-01A-01D-1491-08	29823657	54163341	92200681	23	3020											
KCNS2	3788	broad.mit.edu	37	chr8	99441436	99441436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccatcaccttgatctTcaataagttctcccactttt	8	15	3	15	0	4	1	2	1	2	0	5	1	4	1	4	0	1	1	4	0	2	6			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:99441436T>C	ENST00000287042.4	+	2	1579	c.1229T>C	c.(1228-1230)tTc>tCc	p.F410S	KCNS2_ENST00000521839.1_Missense_Mutation_p.F410S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	410					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACCTTGATCTTCAATAAGTTC	0.552																																					Pancreas(138;844 2489 9202 24627)	uc003yin.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1228-1230)tTc>tCc		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.							123	118	120					8																	99441436		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441436T>C	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1229T>C	8.37:g.99441436T>C	ENSP00000287042:p.Phe410Ser					KCNS2_uc022azb.1_Missense_Mutation_p.F410S	p.F410S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		1	1579	+	Breast(36;2.4e-06)		410					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1229T>C	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792900	0.70452	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97328	-4.34;-4.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	L	0.49778	1.585	0.58432	D	0.999998	D	0.71674	0.998	D	0.76071	0.987	D	0.98842	1.0755	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	410	Q9ULS6	KCNS2_HUMAN	S	410	ENSP00000287042:F410S;ENSP00000430712:F410S	ENSP00000287042:F410S	F	+	2	0	KCNS2	99510612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TTC		0.552	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		C	99441436	T	C	99441436	3	2	47	1	0	0	0	0	1	0	0	0	8089	1783	62	4	1231	4	KCNS2	8	99441436	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	45278095	99441436	46922586	24	3021											
CSMD3	114788	broad.mit.edu	37	chr8	113256758	113256758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggaaggtccatccctaCgacatttgcatgagcaggag	12	8	12	9	1	0	2	0	1	0	1	2	5	2	4	2	3	3	2	2	3	2	2	rs376616443		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:113256758C>T	ENST00000297405.5	-	65	10511	c.10267G>A	c.(10267-10269)Gta>Ata	p.V3423I	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3254I|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3383I|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3353I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3423	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V3423I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATCCCTACGACATTTGCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			1	Substitution - Missense(1)	p.V3423I(2)	central_nervous_system(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10267-10269)Gta>Ata		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	129	113	118		9760,10267,10147	4.3	1	8		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	3254/3539,3423/3708,3383/3668	113256758	2,13004	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256758C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10267G>A	8.37:g.113256758C>T	ENSP00000297405:p.Val3423Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.3_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.2_Missense_Mutation_p.V3254I	p.V3423I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			64	10426	-			3423			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10267G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634337	0.29068	2.27E-4	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.17	4.3	0.51218	Complement control module (2);Sushi/SCR/CCP (3);	0.568868	0.16364	N	0.217639	T	0.52451	0.1735	L	0.40543	1.245	0.30645	N	0.756081	B;B;B	0.30937	0.301;0.175;0.27	B;B;B	0.32465	0.146;0.118;0.065	T	0.50457	-0.8826	10	0.14252	T	0.57	.	13.7914	0.63143	0.0:0.9265:0.0:0.0735	.	3254;3423;3383	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3383;3423;2693;3254;3353	ENSP00000345799:V3383I;ENSP00000297405:V3423I;ENSP00000341558:V2693I;ENSP00000412263:V3254I;ENSP00000343124:V3353I	ENSP00000297405:V3423I	V	-	1	0	CSMD3	113325934	0.962000	0.33011	0.995000	0.50966	0.067000	0.16453	2.337000	0.43947	1.414000	0.47017	0.591000	0.81541	GTA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113256758	C	T	113256758	3	4	47	1	0	0	0	0	1	0	0	0	3946	536	19	1	884	1	CSMD3	8	113256758	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	13815322	113256758	33107264	25	3022											
FER1L6	654463	broad.mit.edu	37	chr8	125047530	125047530	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagcctcctgggaaaCgaccggctggttggtctgtg	5	11	13	12	2	2	0	0	0	2	0	4	2	3	1	4	4	2	2	4	4	1	2	rs553419499		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:125047530C>T	ENST00000522917.1	+	19	2505	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R767*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	767						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCTGGGAAACGACCGGCTGG	0.493																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2299-2301)Cga>Tga		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							85	84	85					8																	125047530		1894	4110	6004	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125047530C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2299C>T	8.37:g.125047530C>T	ENSP00000428280:p.Arg767*					FER1L6-AS1_uc003yqx.1_Intron	p.R767*	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2505	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		767						Nonsense_Mutation	SNP	ENST00000522917.1	37	c.2299C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	38	6.776182	0.97829	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	4.83	3.93	0.45458	.	0.175369	0.36815	U	0.002394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4958	0.61426	0.1578:0.8422:0.0:0.0	.	.	.	.	X	767	.	ENSP00000381982:R767X	R	+	1	2	FER1L6	125116711	0.998000	0.40836	0.702000	0.30337	0.084000	0.17831	3.640000	0.54350	1.103000	0.41568	0.563000	0.77884	CGA		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125047530	C	T	125047530	4	4	47	1	0	0	0	0	0	1	0	0	5815	528	19	1	2369	1	FER1L6	8	125047530	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	11790772	125047530	21316492	26	3023											
EPPK1	83481	broad.mit.edu	37	chr8	144940504	144940504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcggtgtagccggtgacGgcgcgctcggccgacagcag	5	5	19	12	7	0	1	0	1	0	0	2	2	0	1	2	5	2	3	2	5	1	1	rs555448234	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:144940504G>A	ENST00000525985.1	-	2	6989	c.6918C>T	c.(6916-6918)gcC>gcT	p.A2306A				P58107	EPIPL_HUMAN	epiplakin 1	2306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGGTGACGGCGCGCTCGG	0.701													G|||	3	0.000599042	0	0	5008	,	,		71205	0.001		0	False		,,,				2504	0.002					uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6916-6918)gcC>gcT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							143	142	142					8																	144940504		2182	4262	6444	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940504G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6918C>T	8.37:g.144940504G>A							p.A2306A	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6931	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2306					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6918C>T																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940504	G	A	144940504	2	1	47	1	0	0	0	0	0	0	0	1	5190	1103	39	2		2	EPPK1	8	144940504	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	19892974	144940504	1423518	27	3024											
FRMD3	257019	broad.mit.edu	37	chr9	85924522	85924522	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgaagtatggaaTgccaacatggcttttttcta	9	15	11	6	0	1	1	0	1	1	0	1	2	1	2	1	3	2	4	1	3	5	6	rs374785876		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:85924522T>C	ENST00000304195.3	-	10	1061	c.855A>G	c.(853-855)gcA>gcG	p.A285A	FRMD3_ENST00000376438.1_Silent_p.A285A|FRMD3_ENST00000376434.1_Silent_p.A91A	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGTATGGAATGCCAACATGG	0.333																																						uc004ams.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(853-855)gcA>gcG		Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.		T		1,3609		0,1,1804	46	45	45		855	-2	1	9		45	0,8140		0,0,4070	no	coding-synonymous	FRMD3	NM_174938.4		0,1,5874	CC,CT,TT		0.0,0.0277,0.0085		285/598	85924522	1,11749	1805	4070	5875	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85924522T>C	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.855A>G	9.37:g.85924522T>C						FRMD3_uc004amr.1_Silent_p.A285A|FRMD3_uc022bja.1_Silent_p.A241A|FRMD3_uc022biz.1_Silent_p.A91A	p.A285A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			9	1057	-			285			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.855A>G	CCDS43840.1																																																																																				0.333	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		C	85924522	T	C	85924522	2	2	47	1	0	0	0	0	0	0	0	1	6050	1451	51	4		4	FRMD3	9	85924522	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		85924522	55288909	28	3025											
CYLC2	1539	broad.mit.edu	37	chr9	105767700	105767700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgaaggatgccaagaaaGatgcaaaggagattaaaaaa	22	5	10	4	1	0	3	0	0	0	3	1	6	0	4	1	2	2	1	1	2	8	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:105767700G>T	ENST00000374798.3	+	5	857	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.D263Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	263	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGCCAAGAAAGATGCAAAGGA	0.383																																						uc004bbs.2																			0		p.D263D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(787-789)Gat>Tat		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							117	112	113					9																	105767700		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767700G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.787G>T	9.37:g.105767700G>T	ENSP00000420256:p.Asp263Tyr						p.D263Y	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	857	+		all_hematologic(171;0.125)	263			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.787G>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741518	0.30865	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16196	2.36;2.36	4.36	3.47	0.39725	.	1.421110	0.04878	N	0.447237	T	0.29061	0.0722	L	0.29908	0.895	0.22762	N	0.998763	D	0.64830	0.994	P	0.62740	0.906	T	0.23976	-1.0173	10	0.66056	D	0.02	-0.742	8.3686	0.32402	0.1073:0.0:0.8927:0.0	.	263	Q14093	CYLC2_HUMAN	Y	263	ENSP00000420256:D263Y;ENSP00000417674:D263Y	ENSP00000420256:D263Y	D	+	1	0	CYLC2	104807521	0.000000	0.05858	0.127000	0.21898	0.147000	0.21601	0.217000	0.17603	1.202000	0.43218	0.585000	0.79938	GAT		0.383	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		T	105767700	G	T	105767700	3	4	47	1	0	0	0	0	1	0	0	0	4142	942	33	5	805	5	CYLC2	9	105767700	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	19843178	105767700	35445731	29	3026											
LIPK	643414	broad.mit.edu	37	chr10	90497505	90497505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaacttcctatttacTctgagtggatttgatccgca	9	14	8	10	1	1	2	0	2	1	0	3	3	3	3	2	1	4	3	2	1	3	5			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr10:90497505T>C	ENST00000404190.1	+	6	783	c.783T>C	c.(781-783)acT>acC	p.T261T		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	261					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCTATTTACTCTGAGTGGAT	0.383																																						uc010qmv.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(781-783)acT>acC		Homo sapiens lipase, family member K (LIPK), mRNA.							182	171	174					10																	90497505		1853	4106	5959	SO:0001819	synonymous_variant	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90497505T>C		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.783T>C	10.37:g.90497505T>C							p.T261T	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	5	783	+		Colorectal(252;0.0381)	261					A7KIH8	Silent	SNP	ENST00000404190.1	37	c.783T>C	CCDS44455.1																																																																																				0.383	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		C	90497505	T	C	90497505	2	2	47	1	0	0	0	0	0	0	0	1	8827	1538	54	4		4	LIPK	10	90497505	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		90497505	45037242	30	3027											
MUC5B	727897	broad.mit.edu	37	chr11	1272821	1272821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccgtggggaccacccGcacccctgcagtgctcccca	6	5	10	20	2	0	0	0	0	0	0	2	1	2	1	8	2	2	3	8	2	0	0	rs56353324		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:1272821G>A	ENST00000529681.1	+	31	14769	c.14711G>A	c.(14710-14712)cGc>cAc	p.R4904H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R4907H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4904	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652													A|||	1	0.000199681	0	0	5008	,	,		18328	0		0.001	False		,,,				2504	0					uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14710-14712)cGc>cAc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.		A	HIS/ARG	0,4334		0,0,2167	45	57	53		14711	-5.6	0	11	dbSNP_129	53	5,8475		0,5,4235	yes	missense	MUC5B	NM_002458.2	29	0,5,6402	AA,AG,GG		0.059,0.0,0.039	benign	4904/5763	1272821	5,12809	2167	4240	6407	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272821G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14711G>A	11.37:g.1272821G>A	ENSP00000436812:p.Arg4904His						p.R4904H	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	14770	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4904			Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14711G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	2.985	-0.209482	0.06140	0.0	5.9E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	2.78	-5.57	0.02521	.	.	.	.	.	T	0.11110	0.0271	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.25117	-1.0141	9	0.87932	D	0	.	8.7803	0.34787	0.39:0.1137:0.4963:0.0	rs56353324	5226;4907	A7Y9J9;E9PBJ0	.;.	H	4904;4907;4848;4603	ENSP00000436812:R4904H;ENSP00000415793:R4907H	ENSP00000343037:R4848H	R	+	2	0	MUC5B	1229397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.518000	0.00222	-2.519000	0.00498	-2.396000	0.00226	CGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1272821	G	A	1272821	3	1	47	1	0	0	0	0	1	0	0	0	9979	1087	38	1	14842	1	MUC5B	11	1272821	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		1272821	133733695	31	3028											
OR51D1	390038	broad.mit.edu	37	chr11	4661423	4661423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccatggcttttgacCgctttgtggccatttgccac	4	14	11	12	1	0	1	0	1	0	0	0	1	0	1	4	3	2	3	4	3	0	4	rs374266379		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:4661423C>T	ENST00000357605.2	+	1	479	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGACCGCTTTGTGGC	0.542																																						uc010qyk.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(403-405)Cgc>Tgc		Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	137	113	121		403	4.4	1	11		121	0,8596		0,0,4298	no	missense	OR51D1	NM_001004751.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	135/325	4661423	1,12997	2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661423C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.403C>T	11.37:g.4661423C>T	ENSP00000350222:p.Arg135Cys						p.R135C	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	479	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	135					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.403C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653944	0.67472	2.27E-4	0.0	ENSG00000197428	ENST00000357605	T	0.77358	-1.09	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000349	D	0.90497	0.7023	M	0.92367	3.3	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.92878	0.6320	10	0.87932	D	0	.	16.1398	0.81515	0.0:1.0:0.0:0.0	.	135	Q8NGF3	O51D1_HUMAN	C	135	ENSP00000350222:R135C	ENSP00000350222:R135C	R	+	1	0	OR51D1	4617999	0.986000	0.35501	1.000000	0.80357	0.879000	0.50718	1.741000	0.38238	2.433000	0.82419	0.563000	0.77884	CGC		0.542	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		T	4661423	C	T	4661423	3	4	47	1	0	0	0	0	1	0	0	0	11093	652	23	2	405	2	OR51D1	11	4661423	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	3388602	4661423	130345093	32	3029											
RBMXL2	27288	broad.mit.edu	37	chr11	7110545	7110545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcagacgccaaggccgCcgccagagacatgaacggca	11	1	12	17	5	0	3	0	1	0	2	0	4	0	3	6	2	1	2	6	2	2	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:7110545C>T	ENST00000306904.5	+	1	381	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	65	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAAGGCCGCCGCCAGAGAC	0.647																																						uc001mfc.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(193-195)gCc>gTc		Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.							24	22	23					11																	7110545		2198	4295	6493	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110545C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.194C>T	11.37:g.7110545C>T	ENSP00000304139:p.Ala65Val						p.A65V	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	381	+			65			RRM.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.194C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360590	0.82353	.	.	ENSG00000170748	ENST00000306904	D	0.87412	-2.25	2.51	2.51	0.30379	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.89649	0.6776	M	0.79805	2.47	0.80722	D	1	P	0.39391	0.671	P	0.48368	0.575	D	0.90735	0.4645	10	0.72032	D	0.01	.	11.1558	0.48486	0.0:1.0:0.0:0.0	.	65	O75526	HNRGT_HUMAN	V	65	ENSP00000304139:A65V	ENSP00000304139:A65V	A	+	2	0	RBMXL2	7067121	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.502000	0.66956	1.681000	0.50988	0.455000	0.32223	GCC		0.647	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		T	7110545	C	T	7110545	3	4	47	1	0	0	0	0	1	0	0	0	13154	739	26	3	196	3	RBMXL2	11	7110545	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	2449122	7110545	127895971	33	3030											
SLC17A6	57084	broad.mit.edu	37	chr11	22391734	22391734	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggatttgaaattagcaaGgtatgtaaaatgtattctta	14	17	8	2	0	1	1	0	1	1	0	1	2	1	2	0	2	1	4	0	2	8	8			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:22391734G>C	ENST00000263160.3	+	8	1478	c.1041G>C	c.(1039-1041)aaG>aaC	p.K347N		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	347					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAATTAGCAAGGTATGTAAAA	0.279																																						uc001mqk.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.e8+1		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.							52	55	54					11																	22391734		2203	4294	6497	SO:0001630	splice_region_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22391734G>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1041+1G>C	11.37:g.22391734G>C							p.K347_splice	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			8	1454	+			347					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1041_splice	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199155	0.58126	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.57752	0.38	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	N	0.25789	0.76	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.21484	-1.0244	10	0.38643	T	0.18	.	19.5581	0.95361	0.0:0.0:1.0:0.0	.	347	Q9P2U8	VGLU2_HUMAN	N	347;235	ENSP00000263160:K347N	ENSP00000263160:K347N	K	+	3	2	SLC17A6	22348310	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.679000	0.68160	2.702000	0.92279	0.591000	0.81541	AAG		0.279	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	Missense_Mutation	C	22391734	G	C	22391734	5	2	47	1	0	0	0	0	0	0	1	0	14421	1014	35	5	1071	5	SLC17A6	11	22391734	Splice_Site	SNP	G	TCGA-06-0219-01A-01D-1491-08	15281189	22391734	112614782	34	3031											
MPEG1	219972	broad.mit.edu	37	chr11	58978613	58978613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccggatttgacgcaatAggacacttggcatccatcgc	10	8	11	12	3	0	1	0	1	0	0	2	4	1	3	2	3	1	2	2	3	2	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:58978613A>G	ENST00000361050.3	-	1	1811	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	576						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGACGCAATAGGACACTTGG	0.602																																						uc001nnu.4																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1726-1728)Tat>Cat		Homo sapiens macrophage expressed 1 (MPEG1), mRNA.							72	80	77					11																	58978613		1937	4134	6071	SO:0001583	missense	219972					integral to membrane		g.chr11:58978613A>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1726T>C	11.37:g.58978613A>G	ENSP00000354335:p.Tyr576His						p.Y576H	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			0	1882	-		all_epithelial(135;0.125)	576					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1726T>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606688	0.46527	.	.	ENSG00000197629	ENST00000361050	T	0.51574	0.7	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.78049	2.395	0.48696	D	0.999695	D	0.89917	1.0	D	0.87578	0.998	T	0.73325	-0.4018	10	0.87932	D	0	-27.7736	13.6608	0.62366	1.0:0.0:0.0:0.0	.	576	Q2M385	MPEG1_HUMAN	H	576	ENSP00000354335:Y576H	ENSP00000354335:Y576H	Y	-	1	0	MPEG1	58735189	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	6.780000	0.75063	2.212000	0.71576	0.533000	0.62120	TAT		0.602	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		G	58978613	A	G	58978613	3	3	47	1	0	0	0	0	1	0	0	0	9723	420	15	4	428	4	MPEG1	11	58978613	Missense_Mutation	SNP	A	TCGA-06-0219-01A-01D-1491-08	36586879	58978613	76027903	35	3032											
KCNJ8	3764	broad.mit.edu	37	chr12	21918727	21918727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtaccatgagggaagaaTtgttccttcggatagaattg	11	13	12	5	1	0	3	0	1	0	2	2	5	1	5	2	3	1	2	2	3	5	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:21918727T>C	ENST00000240662.2	-	3	1550	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	402					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GAGGGAAGAATTGTTCCTTCG	0.408																																						uc001rff.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1204-1206)aAt>aGt		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	Levosimendan(DB00922)						139	133	135					12																	21918727		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21918727T>C	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1205A>G	12.37:g.21918727T>C	ENSP00000240662:p.Asn402Ser						p.N402S	NM_004982	NP_004973	Q15842	IRK8_HUMAN			2	1543	-			402					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.1205A>G	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056395	0.55325	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	T	0.78924	-1.22	5.86	5.86	0.93980	.	0.133902	0.64402	D	0.000002	T	0.73628	0.3611	N	0.08118	0	0.58432	D	0.999999	D	0.63880	0.993	D	0.65443	0.935	T	0.70368	-0.4891	10	0.09084	T	0.74	.	16.2669	0.82588	0.0:0.0:0.0:1.0	.	402	Q15842	IRK8_HUMAN	S	402	ENSP00000240662:N402S	ENSP00000240662:N402S	N	-	2	0	KCNJ8	21809994	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	7.361000	0.79497	2.240000	0.73641	0.533000	0.62120	AAT		0.408	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		C	21918727	T	C	21918727	3	2	47	1	0	0	0	0	1	0	0	0	8056	1493	52	4	73	4	KCNJ8	12	21918727	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08		21918727	111933168	36	3033											
NTN4	59277	broad.mit.edu	37	chr12	96052972	96052972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcctgttcttatatcctCatgtcctgctacaaggtatt	7	18	6	10	0	2	0	1	0	1	0	4	0	4	0	3	1	3	3	3	1	5	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:96052972C>T	ENST00000343702.4	-	10	2225	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NTN4_ENST00000344911.4_Missense_Mutation_p.E556K|NTN4_ENST00000553059.1_Missense_Mutation_p.E570K|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000538383.1_Missense_Mutation_p.E556K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	593	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTATATCCTCATGTCCTGCT	0.368																																						uc001tei.3																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1777-1779)Gag>Aag		Homo sapiens netrin 4 (NTN4), mRNA.							114	107	109					12																	96052972		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96052972C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1777G>A	12.37:g.96052972C>T	ENSP00000340998:p.Glu593Lys					NTN4_uc009ztf.3_Missense_Mutation_p.E570K|NTN4_uc009ztg.3_Missense_Mutation_p.E556K	p.E593K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			9	2226	-			593			NTR.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1777G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704692	0.68615	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.86	4.98	0.66077	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.278980	0.38837	N	0.001555	T	0.44746	0.1308	M	0.71206	2.165	0.47407	D	0.999411	D;D	0.69078	0.98;0.997	P;D	0.67725	0.814;0.953	T	0.44390	-0.9331	10	0.59425	D	0.04	.	14.9545	0.71101	0.0:0.9318:0.0:0.0682	.	570;593	Q9HB63-2;Q9HB63	.;NET4_HUMAN	K	593;556;556;570	ENSP00000340998:E593K;ENSP00000339436:E556K;ENSP00000444432:E556K;ENSP00000447292:E570K	ENSP00000340998:E593K	E	-	1	0	NTN4	94577103	0.993000	0.37304	0.954000	0.39281	0.470000	0.32858	3.068000	0.50018	1.493000	0.48517	0.650000	0.86243	GAG		0.368	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		T	96052972	C	T	96052972	3	4	47	1	0	0	0	0	1	0	0	0	10702	835	29	3	113	3	NTN4	12	96052972	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	74134245	96052972	37798923	37	3034											
GLT8D2	83468	broad.mit.edu	37	chr12	104390581	104390581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgagaaagccgccgCgtggcccagggccaaggtgg	8	5	16	12	3	2	1	1	1	1	1	2	2	2	1	4	4	1	0	4	4	2	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:104390581C>T	ENST00000360814.4	-	8	937	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	GLT8D2_ENST00000546436.1_Missense_Mutation_p.A178T|GLT8D2_ENST00000548660.1_Missense_Mutation_p.A178T	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	178						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAAGCCGCCGCGTGGCCCAGG	0.478																																						uc001tkh.1																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(532-534)Gcg>Acg		Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.							99	102	101					12																	104390581		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104390581C>T	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.532G>A	12.37:g.104390581C>T	ENSP00000354053:p.Ala178Thr					GLT8D2_uc001tki.1_Missense_Mutation_p.A178T	p.A178T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			7	1089	-			178					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.532G>A	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097885	0.94197	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.42513	0.97;0.97;0.97	5.13	5.13	0.70059	.	0.052669	0.85682	D	0.000000	T	0.57961	0.2089	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.59595	-0.7425	10	0.56958	D	0.05	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	178	Q9H1C3	GL8D2_HUMAN	T	178	ENSP00000354053:A178T;ENSP00000449750:A178T;ENSP00000447450:A178T	ENSP00000354053:A178T	A	-	1	0	GLT8D2	102914711	1.000000	0.71417	0.430000	0.26722	0.784000	0.44337	7.739000	0.84976	2.385000	0.81259	0.563000	0.77884	GCG		0.478	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		T	104390581	C	T	104390581	3	4	47	1	0	0	0	0	1	0	0	0	6470	768	27	1	533	1	GLT8D2	12	104390581	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	8337609	104390581	29461314	38	3035											
ACACB	32	broad.mit.edu	37	chr12	109696853	109696853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcaaggacttcaacCgggagaagttgcccctgatg	10	7	13	11	2	2	2	2	1	0	1	2	4	2	3	4	3	2	1	4	3	3	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:109696853C>T	ENST00000338432.7	+	47	6555	c.6436C>T	c.(6436-6438)Cgg>Tgg	p.R2146W	ACACB_ENST00000377848.3_Missense_Mutation_p.R2146W|ACACB_ENST00000543201.1_Missense_Mutation_p.R812W|ACACB_ENST00000377854.5_Missense_Mutation_p.R2076W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2146	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGACTTCAACCGGGAGAAGTT	0.572																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6436-6438)Cgg>Tgg		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						169	170	170					12																	109696853		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696853C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6436C>T	12.37:g.109696853C>T	ENSP00000341044:p.Arg2146Trp					ACACB_uc001toc.3_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R812W	p.R2146W	NM_001093	NP_001084	O00763	ACACB_HUMAN			46	6555	+			2146			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6436C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509403	0.64522	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.07	3.18	0.36537	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.350255	0.31438	N	0.007650	D	0.98701	0.9564	M	0.90814	3.15	0.40491	D	0.980549	D	0.89917	1.0	D	0.68192	0.956	D	0.99751	1.1018	10	0.66056	D	0.02	.	13.7044	0.62629	0.4275:0.5725:0.0:0.0	.	2146	O00763	ACACB_HUMAN	W	2146;2146;2076;1377;812	ENSP00000341044:R2146W;ENSP00000367079:R2146W;ENSP00000367085:R2076W;ENSP00000444075:R812W	ENSP00000341044:R2146W	R	+	1	2	ACACB	108181236	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	2.986000	0.49370	0.748000	0.32831	-0.397000	0.06425	CGG		0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109696853	C	T	109696853	3	4	47	1	0	0	0	0	1	0	0	0	107	643	23	2	6618	2	ACACB	12	109696853	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	5306272	109696853	24155042	39	3036											
ACAD10	80724	broad.mit.edu	37	chr12	112182642	112182642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcagcaggagttataGctccgttccagaagcttccc	10	8	10	13	1	0	1	0	0	0	1	3	2	3	2	3	2	3	6	3	2	3	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:112182642G>C	ENST00000313698.4	+	13	2065	c.1910G>C	c.(1909-1911)aGc>aCc	p.S637T	ACAD10_ENST00000455480.2_Missense_Mutation_p.S668T|ACAD10_ENST00000549590.1_Missense_Mutation_p.S637T|ACAD10_ENST00000392636.2_Missense_Mutation_p.S239T|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	637						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGAGTTATAGCTCCGTTCCA	0.562																																						uc009zvx.3																			0		p.Y667F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2002-2004)aGc>aCc		Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.							78	71	73					12																	112182642		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182642G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1910G>C	12.37:g.112182642G>C	ENSP00000325137:p.Ser637Thr					ACAD10_uc001tsp.3_Missense_Mutation_p.S637T|ACAD10_uc001tsq.3_Missense_Mutation_p.S637T|ACAD10_uc001tss.1_Non-coding_Transcript	p.S668T	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN			13	2203	+			637					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2003G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865292	0.32977	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96427	-4.01;3.2;-3.59;-3.59	5.42	0.802	0.18686	.	1.592580	0.03031	N	0.152025	D	0.93514	0.7930	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.83235	-0.0061	10	0.46703	T	0.11	.	7.7227	0.28742	0.0:0.3515:0.4474:0.2011	.	668;637;637	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	T	239;637;637;668;30;637;218	ENSP00000376411:S239T;ENSP00000446959:S637T;ENSP00000389813:S668T;ENSP00000325137:S637T	ENSP00000325137:S637T	S	+	2	0	ACAD10	110667025	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-0.312000	0.08113	0.158000	0.19367	0.655000	0.94253	AGC		0.562	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		C	112182642	G	C	112182642	3	2	47	1	0	0	0	0	1	0	0	0	108	971	34	5	2053	5	ACAD10	12	112182642	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	2485789	112182642	21669253	40	3037											
NUFIP1	26747	broad.mit.edu	37	chr13	45554922	45554922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccacgatcacaggtatCacaaaaaaagtgaaaaactg	22	5	6	8	1	2	1	2	1	0	0	2	2	2	1	1	1	2	1	1	1	8	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr13:45554922C>T	ENST00000379161.4	-	3	575	c.529G>A	c.(529-531)Gat>Aat	p.D177N	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	177					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACAGGTATCACAAAAAAAG	0.313																																						uc001uzp.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(529-531)Gat>Aat		Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.							95	98	97					13																	45554922		2201	4296	6497	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45554922C>T	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.529G>A	13.37:g.45554922C>T	ENSP00000368459:p.Asp177Asn						p.D177N	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	2	571	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	177					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.529G>A	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758993	0.89843	.	.	ENSG00000083635	ENST00000379161	T	0.53423	0.62	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.55481	1.735	0.45330	D	0.998329	D	0.89917	1.0	D	0.91635	0.999	T	0.67237	-0.5721	10	0.72032	D	0.01	-21.9344	16.2389	0.82396	0.0:1.0:0.0:0.0	.	177	Q9UHK0	NUFP1_HUMAN	N	177	ENSP00000368459:D177N	ENSP00000368459:D177N	D	-	1	0	NUFIP1	44452922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.497000	0.66924	2.438000	0.82558	0.585000	0.79938	GAT		0.313	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		T	45554922	C	T	45554922	3	4	47	1	0	0	0	0	1	0	0	0	10748	826	29	3	990	3	NUFIP1	13	45554922	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		45554922	69614956	41	3038											
ESRRB	2103	broad.mit.edu	37	chr14	76905790	76905790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcatcgatgccctcagcCaccacagccccagtggctcg	7	5	11	18	3	1	0	1	0	0	0	3	1	1	0	5	2	3	2	5	2	0	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr14:76905790C>T	ENST00000509242.1	+	3	192	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000380887.2_Missense_Mutation_p.H32Y|ESRRB_ENST00000261532.7_Missense_Mutation_p.H32Y|ESRRB_ENST00000556177.1_Missense_Mutation_p.H32Y	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	32					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCTCAGCCACCACAGCCC	0.682																																						uc001xsr.3																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(94-96)Cac>Tac		Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							26	28	28					14																	76905790		2168	4237	6405	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905790C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.94C>T	14.37:g.76905790C>T	ENSP00000422488:p.His32Tyr					ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.H32Y	p.H32Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	465	+			32					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.94C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020202	0.93462	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.93019	-3.14;-3.15;-3.12;-3.15;-3.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.91452	0.7302	L	0.50333	1.59	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.18871	0.023;0.023	D	0.88392	0.3009	10	0.46703	T	0.11	.	18.5969	0.91232	0.0:1.0:0.0:0.0	.	32;37	Q5F0P7;E7EWD9	.;.	Y	37;32;32;32;32	ENSP00000424992:H37Y;ENSP00000422488:H32Y;ENSP00000451658:H32Y;ENSP00000370270:H32Y;ENSP00000261532:H32Y	ENSP00000261532:H32Y	H	+	1	0	ESRRB	75975543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.390000	0.81377	0.655000	0.94253	CAC		0.682	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			T	76905790	C	T	76905790	3	4	47	1	0	0	0	0	1	0	0	0	5261	594	21	3	96	3	ESRRB	14	76905790	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		76905790	30443750	42	3039											
RYR3	6263	broad.mit.edu	37	chr15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttacgtgttagaaattgCgggtgaagaggaagaagacg	13	10	14	4	3	1	5	0	1	1	4	1	6	1	6	0	2	2	1	0	2	6	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12379-12381)gCg>gTg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							144	143	143					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130561C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val					RYR3_uc010bar.3_Missense_Mutation_p.A4122V	p.A4127V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	88	12450	+		all_lung(180;7.18e-09)	4127					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12380C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34130561	C	T	34130561	3	4	47	1	0	0	0	0	1	0	0	0	13770	768	27	1	12734	1	RYR3	15	34130561	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		34130561	68400831	43	3040											
AMAC1	146861	broad.mit.edu	37	chr17	33521189	33521189	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagcaggcaggcccccAcccagcagggccaccagcag	11	0	12	18	0	0	0	0	0	0	0	0	0	0	0	6	3	4	4	6	3	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:33521189A>C	ENST00000297307.5	-	1	223	c.138T>G	c.(136-138)ggT>ggG	p.G46G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	46						integral component of membrane (GO:0016021)											GCAGGCCCCCACCCAGCAGGG	0.682																																						uc002hjd.2																			0											c.(136-138)ggT>ggG		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							47	52	50					17																	33521189		2203	4299	6502	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521189A>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.138T>G	17.37:g.33521189A>C							p.G46G	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN			0	224	-			46					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.138T>G	CCDS11293.1																																																																																				0.682	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		C	33521189	A	C	33521189	2	2	47	1	0	0	0	0	0	0	0	1	559	146	6	5		5	AMAC1	17	33521189	Silent	SNP	A	TCGA-06-0219-01A-01D-1491-08		33521189	47674021	44	3041											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282053	71282053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcttcagcccgtacgtgGccttgggcacgacaggcaga	8	7	13	13	3	1	1	1	0	0	1	1	2	1	1	2	3	3	4	2	3	1	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:71282053G>A	ENST00000335793.3	-	2	981	c.587C>T	c.(586-588)gCc>gTc	p.A196V	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.A126V|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	196					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632																																						uc002jjn.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(586-588)gCc>gTc		Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.							83	71	75					17																	71282053		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282053G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.587C>T	17.37:g.71282053G>A	ENSP00000338258:p.Ala196Val					CDC42EP4_uc002jjo.3_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V|CDC42EP4_uc021ucn.1_Missense_Mutation_p.A196V	p.A196V	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		1	734	-			196					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.587C>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	5.596	0.294722	0.10567	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.30714	1.52;1.52	4.5	2.31	0.28768	.	0.548516	0.18085	N	0.152194	T	0.13543	0.0328	N	0.16478	0.41	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.002	T	0.09773	-1.0659	10	0.13470	T	0.59	-16.8599	3.1308	0.06423	0.1051:0.3577:0.3915:0.1458	.	126;196	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	V	196;126	ENSP00000338258:A196V;ENSP00000404270:A126V	ENSP00000338258:A196V	A	-	2	0	CDC42EP4	68793648	0.996000	0.38824	0.973000	0.42090	0.075000	0.17131	0.833000	0.27504	0.866000	0.35629	0.484000	0.47621	GCC		0.632	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		A	71282053	G	A	71282053	3	1	47	1	0	0	0	0	1	0	0	0	3078	1203	42	3	487	3	CDC42EP4	17	71282053	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	37760864	71282053	9913157	45	3042											
EPB41L3	23136	broad.mit.edu	37	chr18	5428421	5428421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcgcgatatatcaacagaCcacttgcacaaactcctaac	14	8	6	13	2	1	1	1	0	0	1	3	2	2	1	2	1	4	1	2	1	5	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr18:5428421C>G	ENST00000341928.2	-	9	1296	c.956G>C	c.(955-957)gGt>gCt	p.G319A	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G319A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G319A|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G319A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G319A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	319	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TATCAACAGACCACTTGCACA	0.393																																						uc002kmt.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(955-957)gGt>gCt		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							137	144	141					18																	5428421		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428421C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.956G>C	18.37:g.5428421C>G	ENSP00000343158:p.Gly319Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	p.G319A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			8	1042	-			319			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.956G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014671	0.93404	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	5.18	5.18	0.71444	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;0.99;1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.6885	0.91574	0.0:1.0:0.0:0.0	.	319;319;210;319;319	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	A	319;210;319;210;319;319	ENSP00000343158:G319A;ENSP00000441174:G319A;ENSP00000341138:G319A;ENSP00000382981:G319A	ENSP00000343158:G319A	G	-	2	0	EPB41L3	5418421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.386000	0.81285	0.563000	0.77884	GGT		0.393	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		G	5428421	C	G	5428421	3	3	47	1	0	0	0	0	1	0	0	0	5154	507	18	5	2363	5	EPB41L3	18	5428421	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		5428421	72648827	46	3043											
ATCAY	85300	broad.mit.edu	37	chr19	3907818	3907818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggaggacggcagcgccGccaacgggcgcctgtggcgg	6	2	19	14	8	0	0	0	0	0	0	0	3	0	2	3	6	2	1	3	6	1	0	rs199529579		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:3907818G>A	ENST00000450849.2	+	5	912	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	ATCAY_ENST00000398448.3_Missense_Mutation_p.A155T|ATCAY_ENST00000600960.1_Missense_Mutation_p.A149T|ATCAY_ENST00000301260.6_Missense_Mutation_p.A149T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	149					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGCAGCGCCGCCAACGGGCG	0.642																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(463-465)Gcc>Acc		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.		G	THR/ALA	1,4099		0,1,2049	45	56	52		445	2.9	0.8	19		52	2,8386		0,2,4192	no	missense	ATCAY	NM_033064.4	58	0,3,6241	AA,AG,GG		0.0238,0.0244,0.024	benign	149/372	3907818	3,12485	2050	4194	6244	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907818G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.445G>A	19.37:g.3907818G>A	ENSP00000390941:p.Ala149Thr					ATCAY_uc002lyy.4_Missense_Mutation_p.A149T|ATCAY_uc010dts.3_5'Flank	p.A155T			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	946	+		Hepatocellular(1079;0.137)	149					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.463G>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398776	0.25291	2.44E-4	2.38E-4	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.37058	1.24;1.23;1.22	5.08	2.94	0.34122	.	0.382752	0.29185	N	0.012897	T	0.15609	0.0376	N	0.08118	0	0.28192	N	0.927705	B;B	0.14805	0.011;0.003	B;B	0.15870	0.014;0.005	T	0.12116	-1.0560	10	0.23891	T	0.37	.	5.5941	0.17317	0.3663:0.0:0.6337:0.0	.	155;149	B4DS11;Q86WG3	.;ATCAY_HUMAN	T	149;149;149;155;127	ENSP00000390941:A149T;ENSP00000301260:A149T;ENSP00000381466:A155T	ENSP00000301260:A149T	A	+	1	0	ATCAY	3858818	0.009000	0.17119	0.823000	0.32752	0.484000	0.33280	0.092000	0.15066	1.145000	0.42336	0.638000	0.83543	GCC		0.642	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			A	3907818	G	A	3907818	3	1	47	1	0	0	0	0	1	0	0	0	1077	1087	38	1	459	1	ATCAY	19	3907818	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		3907818	55221165	47	3044											
ZNF536	9745	broad.mit.edu	37	chr19	30935903	30935903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctccagcatggcccaCggcgtcccggagggggacaa	8	4	13	16	3	1	0	0	0	1	0	3	2	2	2	4	5	1	1	4	5	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:30935903C>G	ENST00000355537.3	+	2	1581	c.1434C>G	c.(1432-1434)caC>caG	p.H478Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	478					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCATGGCCCACGGCGTCCCGG	0.662																																						uc002nsu.1																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1432-1434)caC>caG		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							35	38	37					19																	30935903		2202	4300	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935903C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1434C>G	19.37:g.30935903C>G	ENSP00000347730:p.His478Gln					ZNF536_uc010edd.1_Missense_Mutation_p.H478Q	p.H478Q	NM_014717	NP_055532	O15090	ZN536_HUMAN			1	1572	+	Esophageal squamous(110;0.0834)		478					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1434C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	4.076	0.011943	0.07912	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.53	3.39	0.38822	.	0.165659	0.53938	D	0.000056	T	0.17280	0.0415	L	0.44542	1.39	0.43095	D	0.994777	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.975	T	0.01238	-1.1409	10	0.34782	T	0.22	-34.4709	9.7019	0.40192	0.0:0.7857:0.0:0.2143	.	478;478	A7E228;O15090	.;ZN536_HUMAN	Q	478	ENSP00000347730:H478Q	ENSP00000347730:H478Q	H	+	3	2	ZNF536	35627743	0.993000	0.37304	0.992000	0.48379	0.258000	0.26162	0.563000	0.23547	0.688000	0.31529	-0.140000	0.14226	CAC		0.662	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		G	30935903	C	G	30935903	3	3	47	1	0	0	0	0	1	0	0	0	17971	535	19	5	1436	5	ZNF536	19	30935903	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	27028085	30935903	28193080	48	3045											
MLL4	9757	broad.mit.edu	37	chr19	36214780	36214780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggcccgaggagcaggactCcctcctgcagcgcaagtcag	9	4	14	14	2	1	0	1	0	0	0	3	3	3	2	3	3	3	3	3	3	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:36214780C>G	ENST00000222270.7	+	8	3206	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1069C	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1069					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S1071F(1)									GAGCAGGACTCCCTCCTGCAG	0.716																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		1	Substitution - Missense(1)	p.S1071F(1)	NS(1)	NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(3205-3207)tCc>tGc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							9	12	11					19																	36214780		1850	4051	5901	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36214780C>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3206C>G	19.37:g.36214780C>G	ENSP00000222270:p.Ser1069Cys	HNSCC(34;0.089)				MLL2_uc021usu.1_5'UTR	p.S1069C	NM_014727	NP_055542	O14686	MLL2_HUMAN			7	3206	+			831			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3206C>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254920	0.39896	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85171	-1.95;-1.95	5.97	5.97	0.96955	.	0.159109	0.29956	N	0.010765	D	0.84252	0.5431	N	0.14661	0.345	0.45962	D	0.998783	D	0.69078	0.997	P	0.55667	0.781	D	0.86704	0.1931	10	0.87932	D	0	.	19.1994	0.93704	0.0:1.0:0.0:0.0	.	1069	Q9UMN6	MLL4_HUMAN	C	1069	ENSP00000222270:S1069C;ENSP00000398837:S1069C	ENSP00000222270:S1069C	S	+	2	0	AD000671.1	40906620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.028000	0.41088	2.837000	0.97791	0.655000	0.94253	TCC		0.716	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		G	36214780	C	G	36214780	3	3	47	1	0	0	0	0	1	0	0	0	9623	855	30	5	3236	5	MLL4	19	36214780	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	5278877	36214780	22914203	49	3046											
MARK4	57787	broad.mit.edu	37	chr19	45774954	45774954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctccctgcccttcgacggGcacaacctcaaggtaccgag	8	6	11	16	3	1	0	1	0	0	0	3	2	2	0	4	3	3	3	4	3	3	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:45774954G>A	ENST00000262891.4	+	8	1105	c.774G>A	c.(772-774)ggG>ggA	p.G258G	MARK4_ENST00000300843.4_Silent_p.G258G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTTCGACGGGCACAACCTCA	0.657																																						uc002pbb.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(772-774)ggG>ggA		Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.							47	52	50					19																	45774954		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774954G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.774G>A	19.37:g.45774954G>A						MARK4_uc002paz.2_Missense_Mutation_p.G69D|MARK4_uc002pba.2_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	p.G258G	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	1105	+		all_neural(266;0.224)|Ovarian(192;0.231)	258			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.774G>A	CCDS56097.1																																																																																				0.657	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		A	45774954	G	A	45774954	2	1	47	1	0	0	0	0	0	0	0	1	9315	1190	42	3		3	MARK4	19	45774954	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	9560174	45774954	13354029	50	3047											
SIGLEC6	946	broad.mit.edu	37	chr19	52034451	52034451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttggaagatgtataaccGtatttcatccatttggactt	11	15	8	7	1	1	1	1	0	0	1	2	3	2	3	2	2	2	3	2	2	4	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:52034451G>A	ENST00000425629.3	-	2	544	c.390C>T	c.(388-390)taC>taT	p.Y130Y	SIGLEC6_ENST00000436458.1_Silent_p.Y94Y|SIGLEC6_ENST00000391797.3_Silent_p.Y130Y|SIGLEC6_ENST00000346477.3_Silent_p.Y130Y|SIGLEC6_ENST00000343300.4_Silent_p.Y130Y|SIGLEC6_ENST00000359982.4_Silent_p.Y130Y|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	130					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATGTATAACCGTATTTCATCC	0.547																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(388-390)taC>taT		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.							99	102	101					19																	52034451		2148	4263	6411	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034451G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.390C>T	19.37:g.52034451G>A						SIGLEC6_uc002pwz.3_Silent_p.Y130Y|SIGLEC6_uc010ydb.2_Silent_p.Y94Y|SIGLEC6_uc010ydc.2_Silent_p.Y130Y|SIGLEC6_uc002pxa.3_Silent_p.Y130Y|SIGLEC6_uc010eoz.2_Silent_p.Y130Y|SIGLEC6_uc010epa.2_Silent_p.Y119Y|SIGLEC6_uc010epb.2_Silent_p.Y83Y	p.Y130Y	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	1	598	-		all_neural(266;0.0199)	130					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.390C>T	CCDS12834.3																																																																																				0.547	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		A	52034451	G	A	52034451	2	1	47	1	0	0	0	0	0	0	0	1	14312	1140	40	1		1	SIGLEC6	19	52034451	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	6259497	52034451	7094532	51	3048											
C20orf152	140894	broad.mit.edu	37	chr20	34572591	34572591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaggaggtccaccatcGtctgtatggaagaaacggag	12	7	14	8	2	1	2	0	1	1	1	3	5	2	5	2	4	1	1	2	4	3	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr20:34572591G>A	ENST00000373973.3	+	6	780	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	CNBD2_ENST00000349339.1_Missense_Mutation_p.V203I|CNBD2_ENST00000538900.1_Missense_Mutation_p.V203I			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	203								p.V203I(1)									GTCCACCATCGTCTGTATGGA	0.527																																						uc002xer.1																			1	Substitution - Missense(1)	p.V203I(2)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(607-609)Gtc>Atc		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.							200	152	168					20																	34572591		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34572591G>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.607G>A	20.37:g.34572591G>A	ENSP00000363084:p.Val203Ile					C20orf152_uc002xes.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_Non-coding_Transcript	p.V203I	NM_080834	NP_543024	Q96M20	CT152_HUMAN			5	763	+	Breast(12;0.00631)		203					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.607G>A		.	.	.	.	.	.	.	.	.	.	G	16.88	3.244882	0.59103	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.92595	-3.07;-3.07;-3.07	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000012	D	0.90511	0.7027	N	0.16790	0.44	0.41113	D	0.985752	D;D	0.64830	0.994;0.992	P;P	0.58391	0.838;0.749	D	0.89720	0.3918	10	0.29301	T	0.29	-28.5302	15.9802	0.80102	0.0:0.0:1.0:0.0	.	203;203	Q96M20;Q96M20-2	CT152_HUMAN;.	I	203	ENSP00000363084:V203I;ENSP00000340954:V203I;ENSP00000442729:V203I	ENSP00000340954:V203I	V	+	1	0	C20orf152	34036005	1.000000	0.71417	0.995000	0.50966	0.384000	0.30261	6.610000	0.74178	2.430000	0.82344	0.655000	0.94253	GTC		0.527	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34572591	G	A	34572591	3	1	47	1	0	0	0	0	1	0	0	0	2092	1145	40	1	629	1	C20orf152	20	34572591	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		34572591	28452929	52	3049											
MXRA5	25878	broad.mit.edu	37	chrX	3235658	3235658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccacgcacttatagaCgcctctgtctgagaaggacg	9	8	12	12	3	2	2	0	1	2	2	2	4	2	3	2	2	0	2	2	2	3	2	rs140532419	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chrX:3235658C>T	ENST00000217939.6	-	6	6218	c.6064G>A	c.(6064-6066)Gtc>Atc	p.V2022I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2022	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTTATAGACGCCTCTGTCT	0.642													C|||	2	0.000529801	0.0015	0	3775	,	,		13454	0		0	False		,,,				2504	0					uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6064-6066)Gtc>Atc		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.		T	ILE/VAL	9,3826		0,9,1623,571	35	30	32		6064	3.5	0.9	X	dbSNP_134	32	0,6728		0,0,2428,1872	no	missense	MXRA5	NM_015419.3	29	0,9,4051,2443	TT,TC,CC,C		0.0,0.2347,0.0852	possibly-damaging	2022/2829	3235658	9,10554	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235658C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6064G>A	X.37:g.3235658C>T	ENSP00000217939:p.Val2022Ile						p.V2022I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6221	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2022			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6064G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280124	0.40294	0.002347	0.0	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.54	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32161	U	0.006488	T	0.50684	0.1630	N	0.05487	-0.04	0.25196	N	0.990095	P	0.47962	0.903	P	0.50082	0.63	T	0.39800	-0.9596	10	0.27785	T	0.31	.	8.9933	0.36037	0.0:0.8923:0.0:0.1077	.	2022	Q9NR99	MXRA5_HUMAN	I	2022	ENSP00000217939:V2022I	ENSP00000217939:V2022I	V	-	1	0	MXRA5	3245658	0.992000	0.36948	0.874000	0.34290	0.964000	0.63967	2.908000	0.48750	1.396000	0.46663	0.540000	0.68198	GTC		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3235658	C	T	3235658	3	4	47	1	0	0	0	0	1	0	0	0	10003	536	19	1	2430	1	MXRA5	23	3235658	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		3235658	152034902	53	3050											
AGRN	375790	broad.mit.edu	37	chr1	978952	978952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctttggagccctgtgCgaggccgagaccgggcgctg	4	7	17	13	5	0	1	0	0	0	1	0	4	0	2	4	3	3	2	4	3	0	1	rs142440782		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692																																						uc001ack.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1636-1638)tgC>tgT		Homo sapiens agrin (AGRN), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	45	50	48		1638	-7.3	0.9	1	dbSNP_134	48	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	AGRN	NM_198576.3		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		546/2046	978952	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:978952C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1638C>T	1.37:g.978952C>T							p.C546C	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	8	1688	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	546			Kazal-like 6.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1638C>T	CCDS30551.1																																																																																				0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	978952	C	T	978952	2	4	48	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	978952	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		978952	248271669	1	3051											
GALE	3155	broad.mit.edu	37	chr1	24125491	24125491	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgttaccagcaccttctCtgccatggcacctggcccag	7	9	8	17	0	1	0	0	0	1	0	2	0	1	0	6	2	3	3	6	2	1	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:24125491C>G	ENST00000374490.3	-	0	1600				GALE_ENST00000470383.1_5'UTR|GALE_ENST00000374497.3_Missense_Mutation_p.E3Q	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AGCACCTTCTCTGCCATGGCA	0.592																																						uc009vqo.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(7-9)Gag>Cag		Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.							60	55	57					1																	24125491		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24125491C>G	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963		1.37:g.24125491C>G						GALE_uc001bhv.1_Missense_Mutation_p.E3Q|GALE_uc001bhx.1_Missense_Mutation_p.E3Q|GALE_uc001bhz.1_Intron|GALE_uc009vqq.1_Missense_Mutation_p.E3Q	p.E3Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	217	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	3					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.7G>C	CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953928	0.34471	.	.	ENSG00000117308	ENST00000374497;ENST00000425913;ENST00000445705	D;D;D	0.88046	-2.33;-2.33;-2.33	4.81	4.81	0.61882	NAD(P)-binding domain (1);	0.108901	0.64402	D	0.000008	T	0.72985	0.3529	N	0.05383	-0.06	0.43793	D	0.99633	B;B;B	0.13145	0.007;0.004;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.67791	-0.5579	10	0.21540	T	0.41	-30.2605	12.1516	0.54053	0.0:0.9162:0.0:0.0838	.	3;3;3	Q5QPP1;Q38G75;Q14376	.;.;GALE_HUMAN	Q	3	ENSP00000363621:E3Q;ENSP00000393359:E3Q;ENSP00000398257:E3Q	ENSP00000363621:E3Q	E	-	1	0	GALE	23998078	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	4.417000	0.59822	2.501000	0.84356	0.563000	0.77884	GAG		0.592	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		G	24125491	C	G	24125491	1	3	48	0	1	0	0	0	0	0	0	0	6202	922	32	5		5	GALE	1	24125491	IGR	SNP	C	TCGA-06-0237-01A-02D-1491-08	23146539	24125491	225125130	2	3052											
USH2A	7399	broad.mit.edu	37	chr1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcaagtttccattaCgactcaattgatattgagaa	16	11	8	6	1	1	2	1	2	0	1	2	5	2	3	1	1	2	2	1	1	7	5	rs527236139		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:215933077C>T	ENST00000307340.3	-	57	11542	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3719H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3719	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11155-11157)cGt>cAt		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							122	115	118					1																	215933077		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933077C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11156G>A	1.37:g.215933077C>T	ENSP00000305941:p.Arg3719His	HNSCC(13;0.011)					p.R3719H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	56	11543	-			3719			Fibronectin type-III 22.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11156G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258397	0.80246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55052	0.54;0.54	5.5	4.57	0.56435	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000454	T	0.68879	0.3049	M	0.75447	2.3	0.50467	D	0.999877	D	0.89917	1.0	D	0.64410	0.925	T	0.70436	-0.4872	10	0.42905	T	0.14	.	13.475	0.61303	0.2845:0.7155:0.0:0.0	.	3719	O75445	USH2A_HUMAN	H	3719	ENSP00000305941:R3719H;ENSP00000355910:R3719H	ENSP00000305941:R3719H	R	-	2	0	USH2A	213999700	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.436000	0.52856	1.405000	0.46838	0.563000	0.77884	CGT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215933077	C	T	215933077	3	4	48	1	0	0	0	0	1	0	0	0	17033	536	19	1	4516	1	USH2A	1	215933077	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	191807586	215933077	33317544	3	3053											
OBSCN	84033	broad.mit.edu	37	chr1	228494689	228494689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcgagctgagccgggCgggtgcgagcgtggagtggc	5	6	21	9	5	0	1	0	1	0	0	0	4	0	2	1	4	6	2	1	4	0	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:228494689C>T	ENST00000422127.1	+	45	12058	c.12014C>T	c.(12013-12015)gCg>gTg	p.A4005V	OBSCN_ENST00000366709.4_Missense_Mutation_p.A1124V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A4962V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1639V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4005V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4005	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCCGGGCGGGTGCGAGC	0.657																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12013-12015)gCg>gTg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							34	41	39					1																	228494689		2173	4258	6431	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494689C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12014C>T	1.37:g.228494689C>T	ENSP00000409493:p.Ala4005Val					OBSCN_uc001hsn.3_Missense_Mutation_p.A4005V	p.A4005V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			44	12058	+		Prostate(94;0.0405)	4005			Ig-like 41.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12014C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759791	0.31137	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.47	0.51	0.16983	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845235	0.10427	N	0.676020	T	0.14184	0.0343	L	0.45051	1.395	0.09310	N	1	D;B	0.67145	0.996;0.434	P;B	0.56127	0.792;0.038	T	0.37407	-0.9707	10	0.39692	T	0.17	.	16.8026	0.85617	0.5151:0.4849:0.0:0.0	.	4005;4005	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	4005;4005;1639;1124	ENSP00000284548:A4005V;ENSP00000409493:A4005V;ENSP00000355668:A1639V;ENSP00000355670:A1124V	ENSP00000284548:A4005V	A	+	2	0	OBSCN	226561312	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.125000	0.10579	0.187000	0.20147	0.455000	0.32223	GCG		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228494689	C	T	228494689	3	4	48	1	0	0	0	0	1	0	0	0	10812	768	27	1	12188	1	OBSCN	1	228494689	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	12561612	228494689	20755932	4	3054											
RYR2	6262	broad.mit.edu	37	chr1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtacctttgcacagccGtcttgccattgttaacaaga	10	12	8	11	2	1	1	0	0	1	1	2	1	1	1	3	1	5	3	3	1	3	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7570-7572)Gtc>Atc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							172	165	167					1																	237813234		2021	4187	6208	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813234G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7570G>A	1.37:g.237813234G>A	ENSP00000355533:p.Val2524Ile						p.V2524I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		49	7690	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2524			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7570G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450510	0.63290	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87887	-2.31;-2.31;-2.31	5.48	5.48	0.80851	.	0.099678	0.39615	N	0.001306	T	0.81527	0.4841	L	0.38838	1.175	0.80722	D	1	D	0.57257	0.979	B	0.38156	0.266	T	0.81037	-0.1114	10	0.29301	T	0.29	-16.546	19.7098	0.96094	0.0:0.0:1.0:0.0	.	2524	Q92736	RYR2_HUMAN	I	2524;2522;2508	ENSP00000355533:V2524I;ENSP00000353174:V2522I;ENSP00000443798:V2508I	ENSP00000353174:V2522I	V	+	1	0	RYR2	235879857	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	7.882000	0.87258	2.713000	0.92767	0.655000	0.94253	GTC		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237813234	G	A	237813234	3	1	48	1	0	0	0	0	1	0	0	0	13769	1145	40	1	7768	1	RYR2	1	237813234	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	9318545	237813234	11437387	5	3055											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257073	114257073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgagggcggcggcccgagCgacccctcagagtttggcac	7	5	15	14	5	1	1	1	0	0	1	2	4	1	1	3	4	1	2	3	4	0	1	rs374836136		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	80					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697																																						uc002tjw.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(238-240)agC>agT		Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.		C		1,4309		0,1,2154	45	65	59		240	-1	0	2		59	4,8362		0,4,4179	no	coding-synonymous	FOXD4L1	NM_012184.4		0,5,6333	TT,TC,CC		0.0478,0.0232,0.0394		80/409	114257073	5,12671	2155	4183	6338	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257073C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.240C>T	2.37:g.114257073C>T							p.S80S	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			0	413	+			80					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.240C>T	CCDS2117.1																																																																																				0.697	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		T	114257073	C	T	114257073	2	4	48	1	0	0	0	0	0	0	0	1	6000	767	27	1		1	FOXD4L1	2	114257073	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		114257073	128942300	6	3056											
FANCD2	2177	broad.mit.edu	37	chr3	10084272	10084272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgatggataagttgtcGtctattagattggaggattt	9	17	13	2	1	1	2	0	1	1	1	2	5	1	5	0	4	0	1	0	4	3	7			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:10084272G>A	ENST00000419585.1	+	11	974	c.813G>A	c.(811-813)tcG>tcA	p.S271S	FANCD2_ENST00000383806.1_Silent_p.S271S|FANCD2_ENST00000287647.3_Silent_p.S271S|FANCD2_ENST00000383807.1_Silent_p.S271S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	271	Interaction with BRCA2.|Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S271S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATAAGTTGTCGTCTATTAGAT	0.373			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			2	Substitution - coding silent(2)	p.S271S(3)	endometrium(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51	GRCh37	CD072417	FANCD2	D		c.(811-813)tcG>tcA	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							247	245	246					3																	10084272		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10084272G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.813G>A	3.37:g.10084272G>A						FANCD2_uc003bux.1_Silent_p.S271S|FANCD2_uc003buy.1_Silent_p.S271S	p.S271S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	10	891	+			271			Interaction with BRCA2.|Interaction with FANCE.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.813G>A	CCDS33696.1																																																																																				0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			A	10084272	G	A	10084272	2	1	48	1	0	0	0	0	0	0	0	1	5665	1132	40	1		1	FANCD2	3	10084272	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		10084272	187938158	7	3057											
PLS1	5357	broad.mit.edu	37	chr3	142405148	142405148	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagagcctattttcatcTgcttaatcagattgccccta	9	14	6	12	1	3	2	2	0	1	2	4	3	3	2	3	0	3	1	3	0	3	6			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:142405148T>G	ENST00000337777.3	+	9	1124	c.911T>G	c.(910-912)cTg>cGg	p.L304R	PLS1_ENST00000497002.1_Missense_Mutation_p.L304R|PLS1_ENST00000457734.2_Missense_Mutation_p.L304R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	304	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TATTTTCATCTGCTTAATCAG	0.348																																						uc010huv.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(910-912)cTg>cGg		Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.							144	136	139					3																	142405148		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142405148T>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.911T>G	3.37:g.142405148T>G	ENSP00000336831:p.Leu304Arg					PLS1_uc003euz.3_Missense_Mutation_p.L304R|PLS1_uc003eva.3_Missense_Mutation_p.L304R	p.L304R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN			8	1070	+			304			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.911T>G	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637682	0.87760	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.36	5.36	0.76844	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99719	1.1009	10	0.87932	D	0	-8.9552	15.5191	0.75851	0.0:0.0:0.0:1.0	.	304	Q14651	PLSI_HUMAN	R	304;225;304;304	ENSP00000387890:L304R;ENSP00000417481:L225R;ENSP00000336831:L304R;ENSP00000418700:L304R	ENSP00000336831:L304R	L	+	2	0	PLS1	143887838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.239000	0.73571	0.533000	0.62120	CTG		0.348	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		G	142405148	T	G	142405148	3	3	48	1	0	0	0	0	1	0	0	0	12107	1580	55	5	941	5	PLS1	3	142405148	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	132320876	142405148	55617282	8	3058											
CRYGS	1427	broad.mit.edu	37	chr3	186256595	186256595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcctgccacggtagttggGtagctcatagaaaatccaga	11	9	11	10	1	1	2	1	0	0	2	2	2	2	2	3	2	3	4	3	2	5	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:186256595G>T	ENST00000392499.2	-	4	766	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	CRYGS_ENST00000307944.5_Missense_Mutation_p.P143T	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	143	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGGTAGTTGGGTAGCTCATAG	0.547																																						uc003fqe.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(427-429)Ccc>Acc		Homo sapiens crystallin, gamma S (CRYGS), mRNA.							92	85	87					3																	186256595		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186256595G>T		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"crystallin, gamma 8"	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.427C>A	3.37:g.186256595G>T	ENSP00000376287:p.Pro143Thr						p.P143T	NM_017541	NP_060011	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	2	479	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		143			Beta/gamma crystallin 'Greek key' 4.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.427C>A	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802295	0.90538	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.79454	-1.27;-1.27	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.64402	U	0.000002	D	0.89157	0.6635	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.89735	0.3929	10	0.72032	D	0.01	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	143	P22914	CRBS_HUMAN	T	143	ENSP00000376287:P143T;ENSP00000312099:P143T	ENSP00000312099:P143T	P	-	1	0	CRYGS	187739289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.825000	0.97269	0.655000	0.94253	CCC		0.547	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		T	186256595	G	T	186256595	3	4	48	1	0	0	0	0	1	0	0	0	3919	1261	44	5	113	5	CRYGS	3	186256595	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	43851447	186256595	11765835	9	3059											
CCDC158	339965	broad.mit.edu	37	chr4	77252544	77252544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagtggagtccctcaaCgagttgttgcttctgttggt	5	15	11	10	1	3	0	2	0	1	0	4	2	4	1	2	2	2	4	2	2	1	5	rs376345467		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:77252544C>T	ENST00000388914.3	-	20	3035	c.2883G>A	c.(2881-2883)tcG>tcA	p.S961S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	961	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCCCTCAACGAGTTGTTGC	0.363																																						uc003hkb.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2881-2883)tcG>tcA		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.		C		1,3695		0,1,1847	168	173	172		2883	-8.7	0.1	4		172	1,8177		0,1,4088	no	coding-synonymous	CCDC158	NM_001042784.1		0,2,5935	TT,TC,CC		0.0122,0.0271,0.0168		961/1114	77252544	2,11872	1848	4089	5937	SO:0001819	synonymous_variant	339965							g.chr4:77252544C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2883G>A	4.37:g.77252544C>T							p.S961S	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			19	3036	-			961			Ser-rich.		Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2883G>A	CCDS43242.1																																																																																				0.363	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		T	77252544	C	T	77252544	2	4	48	1	0	0	0	0	0	0	0	1	2790	523	19	1		1	CCDC158	4	77252544	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		77252544	113901732	10	3060											
HPSE	10855	broad.mit.edu	37	chr4	84223361	84223361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctttgaaccttgcaCgcttgccattaacaccttgg	7	14	6	14	1	1	1	0	1	1	0	2	1	1	1	4	1	4	2	4	1	2	6	rs138550346		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:84223361C>T	ENST00000405413.2	-	11	1403	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	HPSE_ENST00000512196.1_Missense_Mutation_p.V349M|HPSE_ENST00000311412.5_Missense_Mutation_p.V423M|HPSE_ENST00000513463.1_Missense_Mutation_p.V365M	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	423					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GAACCTTGCACGCTTGCCATT	0.408																																						uc003hoj.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1267-1269)Gtg>Atg		Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	Heparin(DB01109)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	184	156	166		1267,1045,1093,1267	4.7	0.9	4	dbSNP_134	166	0,8600		0,0,4300	no	missense,missense,missense,missense	HPSE	NM_001098540.2,NM_001166498.2,NM_001199830.1,NM_006665.5	21,21,21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	423/544,349/470,365/486,423/544	84223361	2,13004	2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84223361C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1267G>A	4.37:g.84223361C>T	ENSP00000384262:p.Val423Met					HPSE_uc003hoi.3_Missense_Mutation_p.V365M|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.V166M|HPSE_uc003hok.4_Missense_Mutation_p.V423M|HPSE_uc011cct.2_Missense_Mutation_p.V349M	p.V423M	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	9	1366	-		Hepatocellular(203;0.114)	423					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1267G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864286	0.32977	4.54E-4	0.0	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.50548	0.74;0.74;0.8;0.78	4.67	4.67	0.58626	.	0.518222	0.19552	N	0.111556	T	0.64046	0.2563	M	0.85710	2.77	0.41796	D	0.989896	D;D;D;D	0.76494	0.999;0.994;0.996;0.997	P;P;P;P	0.62885	0.908;0.79;0.896;0.79	T	0.66110	-0.6005	10	0.41790	T	0.15	-16.6852	5.8676	0.18783	0.1924:0.7119:0.0:0.0956	.	349;365;365;423	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	M	423;423;349;365	ENSP00000308107:V423M;ENSP00000384262:V423M;ENSP00000423265:V349M;ENSP00000421365:V365M	ENSP00000308107:V423M	V	-	1	0	HPSE	84442385	0.929000	0.31497	0.858000	0.33744	0.053000	0.15095	1.337000	0.33862	2.419000	0.82065	0.655000	0.94253	GTG		0.408	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		T	84223361	C	T	84223361	3	4	48	1	0	0	0	0	1	0	0	0	7344	536	19	1	376	1	HPSE	4	84223361	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	6970817	84223361	106930915	11	3061											
ASB5	140458	broad.mit.edu	37	chr4	177136841	177136841	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcctatgtagcttcggatAcagagtcggcaaagttggta	10	13	11	7	2	0	1	0	0	0	1	3	2	1	2	1	3	2	5	1	3	5	7			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:177136841A>G	ENST00000296525.3	-	7	1013	c.900T>C	c.(898-900)tgT>tgC	p.C300C	ASB5_ENST00000512254.1_Silent_p.C247C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	300	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCTTCGGATACAGAGTCGGC	0.363																																						uc003iuq.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(898-900)tgT>tgC		Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.							109	103	105					4																	177136841		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177136841A>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.900T>C	4.37:g.177136841A>G						ASB5_uc003iup.2_Silent_p.C247C	p.C300C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	1014	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	300			SOCS box.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.900T>C	CCDS3827.1																																																																																				0.363	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			G	177136841	A	G	177136841	2	3	48	1	0	0	0	0	0	0	0	1	1026	389	14	4		4	ASB5	4	177136841	Silent	SNP	A	TCGA-06-0237-01A-02D-1491-08	92913480	177136841	14017435	12	3062											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182428	182428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctgagccgcacacGccaggcctgatgactgtcag	7	8	13	13	2	1	3	1	3	0	0	1	3	1	3	3	1	3	3	3	1	0	0	rs111247576	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:182428G>A	ENST00000283426.6	+	18	3856	c.3806G>A	c.(3805-3807)cGc>cAc	p.R1269H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1269							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCCGCACACGCCAGGCCTGA	0.632													G|||	3	0.000599042	0.0023	0	5008	,	,		16922	0		0	False		,,,				2504	0					uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3805-3807)cGc>cAc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.		G	HIS/ARG	31,4369		0,31,2169	13	13	13		3806	-3.3	0	5	dbSNP_132	13	0,8588		0,0,4294	yes	missense	PLEKHG4B	NM_052909.3	29	0,31,6463	AA,AG,GG		0.0,0.7045,0.2387	benign	1269/1272	182428	31,12957	2200	4294	6494	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182428G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3806G>A	5.37:g.182428G>A	ENSP00000283426:p.Arg1269His						p.R1269H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	17	3856	+			1269						Missense_Mutation	SNP	ENST00000283426.6	37	c.3806G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.596790	0.00857	0.007045	0.0	ENSG00000153404	ENST00000283426	T	0.33654	1.4	1.63	-3.26	0.05064	.	.	.	.	.	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13308	-1.0514	9	0.87932	D	0	.	1.4934	0.02461	0.1938:0.1518:0.4599:0.1946	.	1269	Q96PX9	PKH4B_HUMAN	H	1269	ENSP00000283426:R1269H	ENSP00000283426:R1269H	R	+	2	0	PLEKHG4B	235428	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.208000	0.09371	-3.053000	0.00259	-1.305000	0.01319	CGC		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	182428	G	A	182428	3	1	48	1	0	0	0	0	1	0	0	0	12072	1087	38	1	3876	1	PLEKHG4B	5	182428	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		182428	180732832	13	3063											
IL31RA	133396	broad.mit.edu	37	chr5	55204208	55204208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgcaactacaccatCttttaccaagctgaaggtgg	12	11	7	11	0	3	1	1	1	2	0	3	1	3	1	2	2	5	2	2	2	5	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:55204208C>A	ENST00000447346.2	+	11	1535	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	IL31RA_ENST00000396834.1_Silent_p.I471I|IL31RA_ENST00000354961.4_Silent_p.I471I|IL31RA_ENST00000396836.2_Silent_p.I490I|IL31RA_ENST00000297015.3_Silent_p.I348I|IL31RA_ENST00000359040.5_Silent_p.I490I|IL31RA_ENST00000490985.1_Silent_p.I348I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	458	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTACACCATCTTTTACCAAG	0.473																																						uc003jql.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1468-1470)atC>atA		Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.							154	129	137					5																	55204208		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55204208C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1470C>A	5.37:g.55204208C>A						IL31RA_uc003jqk.3_Silent_p.I490I|IL31RA_uc011cqj.2_Silent_p.I348I|IL31RA_uc003jqm.3_Silent_p.I471I|IL31RA_uc003jqn.3_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc021xyq.1_Silent_p.I471I|IL31RA_uc003jqo.3_Silent_p.I348I	p.I490I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN			10	1662	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	458			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1470C>A	CCDS3970.2																																																																																				0.473	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		A	55204208	C	A	55204208	2	1	48	1	0	0	0	0	0	0	0	1	7691	903	32	5		5	IL31RA	5	55204208	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	55021780	55204208	125711052	14	3064											
HSD17B4	3295	broad.mit.edu	37	chr5	118810095	118810095	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaattttcctttccctcaGattcagtggaagaaggagag	13	11	9	8	0	2	3	2	0	0	3	4	5	4	4	2	2	0	0	2	2	3	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:118810095G>C	ENST00000256216.6	+	4	353		c.e4-1		HSD17B4_ENST00000504811.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000414835.2_Splice_Site	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CTTTCCCTCAGATTCAGTGGA	0.428																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.e4-1		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	NADH(DB00157)						210	210	210					5																	118810095		2202	4300	6502	SO:0001630	splice_region_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118810095G>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.221-1G>C	5.37:g.118810095G>C						HSD17B4_uc011cwh.2_Splice_Site_p.D56_splice|HSD17B4_uc011cwg.2_Splice_Site_p.D50_splice|HSD17B4_uc011cwi.2_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.4_Splice_Site|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	p.D74_splice	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	4	354	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	74			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Splice_Site	SNP	ENST00000256216.6	37	c.221_splice	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265871	0.80358	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9964	0.97386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B4	118837994	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.557000	0.98129	2.833000	0.97629	0.591000	0.81541	.		0.428	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	Intron	C	118810095	G	C	118810095	5	2	48	1	0	0	0	0	0	0	1	0	7386	956	33	5	234	5	HSD17B4	5	118810095	Splice_Site	SNP	G	TCGA-06-0237-01A-02D-1491-08	63605887	118810095	62105165	15	3065											
ADAMTS19	171019	broad.mit.edu	37	chr5	128796140	128796140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgctgctgcctcctttAccagctggggttcctgtcga	3	13	11	14	1	0	0	0	0	0	0	3	1	2	0	4	2	6	5	4	2	1	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:128796140A>C	ENST00000274487.4	+	1	183	c.38A>C	c.(37-39)tAc>tCc	p.Y13S	ADAMTS19-AS1_ENST00000502827.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	13						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCTCCTTTACCAGCTGGGG	0.622																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(37-39)tAc>tCc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							194	175	182					5																	128796140		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128796140A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.38A>C	5.37:g.128796140A>C	ENSP00000274487:p.Tyr13Ser					ADAMTS19_uc003kvc.1_5'Flank	p.Y13S	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	0	38	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	13						Missense_Mutation	SNP	ENST00000274487.4	37	c.38A>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640839	0.47153	.	.	ENSG00000145808	ENST00000274487	T	0.66815	-0.23	4.03	2.82	0.32997	.	0.235220	0.22166	N	0.063705	T	0.38852	0.1056	N	0.08118	0	0.29511	N	0.854227	B	0.14438	0.01	B	0.04013	0.001	T	0.19976	-1.0289	9	.	.	.	.	5.8336	0.18594	0.6624:0.1718:0.0:0.1658	.	13	Q8TE59	ATS19_HUMAN	S	13	ENSP00000274487:Y13S	.	Y	+	2	0	ADAMTS19	128824039	1.000000	0.71417	0.997000	0.53966	0.771000	0.43674	3.265000	0.51561	0.833000	0.34828	0.455000	0.32223	TAC		0.622	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		C	128796140	A	C	128796140	3	2	48	1	0	0	0	0	1	0	0	0	264	391	14	5	40	5	ADAMTS19	5	128796140	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08	9986045	128796140	52119120	16	3066											
PCDHA10	56139	broad.mit.edu	37	chr5	140237348	140237348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtctcccgctggcagcgCgggcggtgcagtcagtgagc	4	6	18	13	5	2	1	1	1	1	0	3	1	2	1	1	4	3	3	1	4	0	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140237348C>T	ENST00000307360.5	+	1	1715	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	572					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCAGCGCGGGCGGTGCA	0.682																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1714-1716)gCg>gTg		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							35	35	35					5																	140237348		1321	2288	3609	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140237348C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1715C>T	5.37:g.140237348C>T	ENSP00000304234:p.Ala572Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A572V	p.A572V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1715	+			586			Cadherin 5.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1715C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0.340	-0.950873	0.02285	.	.	ENSG00000250120	ENST00000307360	T	0.53640	0.61	3.13	1.26	0.21427	Cadherin-like (1);	.	.	.	.	T	0.32734	0.0839	N	0.20986	0.625	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.15870	0.014;0.002	T	0.19063	-1.0317	9	0.25106	T	0.35	.	12.6284	0.56642	0.0:0.6331:0.3669:0.0	.	572;572	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	572	ENSP00000304234:A572V	ENSP00000304234:A572V	A	+	2	0	PCDHA10	140217532	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.308000	0.08156	0.318000	0.23185	0.491000	0.48974	GCG		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140237348	C	T	140237348	3	4	48	1	0	0	0	0	1	0	0	0	11520	768	27	1	1717	1	PCDHA10	5	140237348	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	11441208	140237348	40677912	17	3067											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307832	140307832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaaccccagcaggaacTtttcgttgctgaaaacaatg	12	10	7	12	1	1	1	1	1	0	0	3	2	2	2	3	1	5	3	3	1	5	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140307832T>C	ENST00000253807.2	+	1	1355	c.1355T>C	c.(1354-1356)cTt>cCt	p.L452P	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L452P|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	452	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGAACTTTTCGTTGCT	0.527																																						uc003lih.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1354-1356)cTt>cCt		Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.							67	72	70					5																	140307832		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140307832T>C	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1355T>C	5.37:g.140307832T>C	ENSP00000253807:p.Leu452Pro					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L452P	p.L452P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1531	+			476			Cadherin 4.		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1355T>C	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620482	0.46736	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01981	4.52;4.52	5.54	5.54	0.83059	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.10465	0.0256	M	0.70108	2.13	0.37950	D	0.93261	D;D	0.61697	0.99;0.98	P;P	0.61132	0.884;0.689	T	0.01245	-1.1407	9	0.72032	D	0.01	.	15.6871	0.77421	0.0:0.0:0.0:1.0	.	452;452	Q9H158;Q9H158-2	PCDC1_HUMAN;.	P	452	ENSP00000386356:L452P;ENSP00000253807:L452P	ENSP00000253807:L452P	L	+	2	0	PCDHAC1	140288016	0.040000	0.19996	0.994000	0.49952	0.858000	0.48976	1.365000	0.34182	2.101000	0.63845	0.379000	0.24179	CTT		0.527	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		C	140307832	T	C	140307832	3	2	48	1	0	0	0	0	1	0	0	0	11532	1609	56	4	1357	4	PCDHAC1	5	140307832	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	70484	140307832	40607428	18	3068											
KIF4B	285643	broad.mit.edu	37	chr5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaggatgctg	13	8	13	7	2	1	2	1	1	0	1	1	3	1	3	1	2	4	3	1	2	4	2	rs199820075		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													G|||	1	0.000199681	0	0	5008	,	,		22303	0.001		0	False		,,,				2504	0					uc010jih.1																			2	Substitution - Missense(2)	p.R652H(3)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1954-1956)cGt>cAt		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							157	156	156					5																	154395374		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395374G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1955G>A	5.37:g.154395374G>A	ENSP00000387875:p.Arg652His						p.R652H	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	2115	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	652						Missense_Mutation	SNP	ENST00000435029.4	37	c.1955G>A	CCDS47324.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.12	1.842099	0.32513	.	.	ENSG00000226650	ENST00000435029	T	0.18174	2.23	2.54	0.587	0.17439	.	.	.	.	.	T	0.12178	0.0296	L	0.47716	1.5	0.48236	D	0.999614	B	0.31256	0.316	B	0.24269	0.052	T	0.09164	-1.0687	9	0.59425	D	0.04	.	5.0708	0.14606	0.3293:0.0:0.6707:0.0	.	652	Q2VIQ3	KIF4B_HUMAN	H	652	ENSP00000387875:R652H	ENSP00000387875:R652H	R	+	2	0	KIF4B	154375567	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	4.427000	0.59888	-0.177000	0.10690	0.563000	0.77884	CGT		0.408	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154395374	G	A	154395374	3	1	48	1	0	0	0	0	1	0	0	0	8304	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	14087542	154395374	26519886	19	3069											
TRIM52	84851	broad.mit.edu	37	chr5	180687305	180687305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggcaaggaaggaggcggGtggatgtcaggatacagctc	11	5	19	6	1	1	0	1	0	0	0	2	4	1	4	0	8	2	2	0	8	3	1	rs537934458		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:180687305G>A	ENST00000327767.4	-	1	814	c.510C>T	c.(508-510)caC>caT	p.H170H	TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	170					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		AAGGAGGCGGGTGGATGTCAG	0.537																																						uc003mnp.3																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(508-510)caC>caT		Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.							173	138	150					5																	180687305		2203	4300	6503	SO:0001819	synonymous_variant	84851					intracellular	zinc ion binding	g.chr5:180687305G>A		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.510C>T	5.37:g.180687305G>A						BC016291_uc003mnq.3_5'Flank	p.H170H	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	0	815	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	170						Silent	SNP	ENST00000327767.4	37	c.510C>T	CCDS4467.1																																																																																				0.537	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		A	180687305	G	A	180687305	2	1	48	1	0	0	0	0	0	0	0	1	16524	1252	44	3		3	TRIM52	5	180687305	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	26291931	180687305	227955	20	3070											
DNAH8	1769	broad.mit.edu	37	chr6	38885721	38885721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgatgagtgcaacaggattCctgtggagccttcagcagtt	9	12	12	8	0	1	2	1	2	0	0	2	4	2	4	2	2	4	3	2	2	1	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:38885721C>A	ENST00000359357.3	+	68	9932	c.9678C>A	c.(9676-9678)ttC>ttA	p.F3226L	DNAH8_ENST00000441566.1_Missense_Mutation_p.F3190L|DNAH8_ENST00000449981.2_Missense_Mutation_p.F3443L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3226	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAACAGGATTCCTGTGGAGCC	0.333																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10327-10329)ttC>ttA		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							58	63	61					6																	38885721		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38885721C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9678C>A	6.37:g.38885721C>A	ENSP00000352312:p.Phe3226Leu					DNAH8_uc003ooe.2_Missense_Mutation_p.F3226L|LOC100131047_uc003oof.2_Intron	p.F3443L	NM_001206927	NP_001193856					69	10438	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10329C>A		.	.	.	.	.	.	.	.	.	.	C	18.66	3.671629	0.67928	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60548	0.18;0.18;0.18	5.82	5.82	0.92795	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.91510	3.215	0.58432	D	0.999999	B	0.31730	0.337	B	0.41036	0.346	T	0.70139	-0.4954	10	0.59425	D	0.04	.	14.2719	0.66157	0.0:0.9293:0.0:0.0707	.	3226	Q96JB1	DYH8_HUMAN	L	3431;3431;3226;3190	ENSP00000333363:F3431L;ENSP00000352312:F3226L;ENSP00000402294:F3190L	ENSP00000333363:F3431L	F	+	3	2	DNAH8	38993699	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.846000	0.39289	2.751000	0.94390	0.650000	0.86243	TTC		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38885721	C	A	38885721	3	1	48	1	0	0	0	0	1	0	0	0	4607	854	30	5	9940	5	DNAH8	6	38885721	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08		38885721	132229346	21	3071											
RSPO3	84870	broad.mit.edu	37	chr6	127469869	127469869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgtttgtcatgtaaGcccagactattttttgctct	9	17	8	7	0	2	1	1	0	1	1	2	2	2	2	1	1	2	3	1	1	3	6			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:127469869G>C	ENST00000356698.4	+	2	763	c.174G>C	c.(172-174)aaG>aaC	p.K58N	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.K58N	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	58					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TGTCATGTAAGCCCAGACTAT	0.423																																						uc003qas.1																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(172-174)aaG>aaC		Homo sapiens R-spondin 3 (RSPO3), mRNA.							170	157	161					6																	127469869		2203	4299	6502	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127469869G>C	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.174G>C	6.37:g.127469869G>C	ENSP00000349131:p.Lys58Asn					RSPO3_uc003qar.3_Missense_Mutation_p.K58N	p.K58N	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	1	464	+			58					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.174G>C	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018172	0.54576	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.82893	-1.66;-1.66	5.93	5.93	0.95920	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.37630	1.12	0.52501	D	0.99995	P;B	0.39759	0.687;0.128	B;B	0.34779	0.189;0.052	T	0.70637	-0.4817	10	0.36615	T	0.2	-22.6679	16.5677	0.84603	0.0:0.1302:0.8698:0.0	.	58;58	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	N	58	ENSP00000349131:K58N;ENSP00000357300:K58N	ENSP00000349131:K58N	K	+	3	2	RSPO3	127511562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.322000	0.33689	2.805000	0.96524	0.655000	0.94253	AAG		0.423	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		C	127469869	G	C	127469869	3	2	48	1	0	0	0	0	1	0	0	0	13711	962	34	5	180	5	RSPO3	6	127469869	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	88584148	127469869	43645198	22	3072											
QKI	9444	broad.mit.edu	37	chr6	163984752	163984755	+	Splice_Site	DEL	GTAA	GTAA	-																															tgaacctagtggtgtattagGtaagttcttctccccatggg																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:163984752_163984755delGTAA	ENST00000361752.3	+	6	1485		c.e6+1		QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000392127.2_Frame_Shift_Del_p.GK312fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GGTGTATTAGGTAAGTTCTTCTCC	0.387																																						uc003qui.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.e6+1		Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984752_163984755delGTAA	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.934+1GTAA>-	6.37:g.163984752_163984755delGTAA						QKI_uc003quj.3_Splice_Site_p.G304_splice|QKI_uc003quh.3_Splice_Site_p.E304_splice|QKI_uc003que.3_Frame_Shift_Del_p.G312fs|QKI_uc003quf.3_Splice_Site_p.E312_splice|QKI_uc003qug.3_Splice_Site_p.G312_splice	p.G312_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1485	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	312					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Splice_Site	DEL	ENST00000361752.3	37	c.934_splice	CCDS5285.1																																																																																				0.387	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	Intron	-	163984755	GTAA	-	163984752	8	5	48	1	0	1	0	1	0	0	1	0	12873	1275	44	0	957	0	QKI	6	163984752	Splice_Site	DEL	GTAA	TCGA-06-0237-01A-02D-1491-08	36514883	163984752	7130315	23	3073											
DNAH11	8701	broad.mit.edu	37	chr7	21639469	21639469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatttatgtagaattcaTtgacgacattgtggtggaag	14	13	11	3	1	1	2	1	1	0	1	1	5	1	3	0	2	0	1	0	2	6	6			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:21639469T>C	ENST00000409508.3	+	15	2763	c.2732T>C	c.(2731-2733)aTt>aCt	p.I911T	DNAH11_ENST00000328843.6_Missense_Mutation_p.I911T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	911	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGAATTCATTGACGACATT	0.373									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2731-2733)aTt>aCt		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							68	64	65					7																	21639469		1839	4093	5932	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639469T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2732T>C	7.37:g.21639469T>C	ENSP00000475939:p.Ile911Thr						p.I911T	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			14	2763	+			911			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2732T>C		.	.	.	.	.	.	.	.	.	.	T	25.3	4.626800	0.87560	.	.	ENSG00000105877	ENST00000328843	T	0.24350	1.86	5.58	5.58	0.84498	.	0.279896	0.36703	N	0.002452	T	0.26593	0.0650	.	.	.	0.48762	D	0.999701	P	0.44734	0.842	B	0.40165	0.321	T	0.02797	-1.1109	9	0.52906	T	0.07	.	15.7141	0.77655	0.0:0.0:0.0:1.0	.	911	Q96DT5	DYH11_HUMAN	T	911	ENSP00000330671:I911T	ENSP00000330671:I911T	I	+	2	0	DNAH11	21605994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.713000	0.68415	2.257000	0.74773	0.459000	0.35465	ATT		0.373	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21639469	T	C	21639469	3	2	48	1	0	0	0	0	1	0	0	0	4599	1493	52	4	2790	4	DNAH11	7	21639469	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08		21639469	137499194	24	3074											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.V30_R297>G(5)|p.L62R(5)	lung(2)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(184-186)cTt>cGt		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175	167	170					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	p.L62R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		1	431	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55210075	T	G	55210075	3	3	48	1	0	0	0	0	1	0	0	0	4967	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	33570606	55210075	103928588	25	3075											
JHDM1D	80853	broad.mit.edu	37	chr7	139790907	139790907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctctgtcacacaaagaaaCgtgcatggccatttctgttc	11	11	8	11	1	3	1	1	0	2	1	4	1	3	1	1	1	3	3	1	1	2	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:139790907C>T	ENST00000397560.2	-	20	2910	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		938					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACAAAGAAACGTGCATGGCC	0.502																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2812-2814)cGt>cAt		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.							144	141	142					7																	139790907		1923	4138	6061	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139790907C>T																												ENST00000397560.2:c.2813G>A	7.37:g.139790907C>T	ENSP00000380692:p.Arg938His					JHDM1D_uc010lng.3_Non-coding_Transcript	p.R938H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			19	2817	-	Melanoma(164;0.0142)		938					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2813G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051231	0.75960	.	.	ENSG00000006459	ENST00000397560	T	0.16196	2.36	5.66	5.66	0.87406	.	0.076733	0.53938	U	0.000060	T	0.37625	0.1010	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.03728	-1.1009	10	0.72032	D	0.01	-10.2047	19.7332	0.96192	0.0:1.0:0.0:0.0	.	938	Q6ZMT4	KDM7_HUMAN	H	938	ENSP00000380692:R938H	ENSP00000380692:R938H	R	-	2	0	JHDM1D	139437376	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.359000	0.66074	2.661000	0.90470	0.591000	0.81541	CGT		0.502	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			T	139790907	C	T	139790907	3	4	48	1	0	0	0	0	1	0	0	0	7948	536	19	1	16	1	JHDM1D	7	139790907	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	84580832	139790907	19347756	26	3076											
MLL3	58508	broad.mit.edu	37	chr7	151849845	151849845	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagccggtaagagctcacTaatctgggagggtttgcaga	10	10	13	8	1	3	2	2	0	1	2	3	3	3	3	1	3	3	4	1	3	2	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:151849845T>C	ENST00000262189.6	-	49	12689	c.12471A>G	c.(12469-12471)ttA>ttG	p.L4157L	KMT2C_ENST00000355193.2_Silent_p.L4214L|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4157					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGAGCTCACTAATCTGGGAG	0.498																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(12469-12471)ttA>ttG		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							120	113	115					7																	151849845		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151849845T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12471A>G	7.37:g.151849845T>C						MLL3_uc003wkz.3_Silent_p.L3275L|MLL3_uc003wkx.3_Silent_p.L315L|MLL3_uc003wky.3_Silent_p.L1721L	p.L4157L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	48	12690	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4157					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.12471A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.587	0.669879	0.14776	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.71	2.06	0.26882	.	.	.	.	.	T	0.21307	0.0513	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20605	-1.0270	4	.	.	.	.	0.9641	0.01402	0.1952:0.2961:0.1283:0.3805	.	.	.	.	G	1718	.	.	S	-	1	0	MLL3	151480778	0.004000	0.15560	0.774000	0.31636	0.869000	0.49853	0.081000	0.14823	0.427000	0.26145	0.528000	0.53228	AGT		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151849845	T	C	151849845	2	2	48	1	0	0	0	0	0	0	0	1	9622	1519	53	4		4	MLL3	7	151849845	Silent	SNP	T	TCGA-06-0237-01A-02D-1491-08	12058938	151849845	7288818	27	3077											
RP1L1	94137	broad.mit.edu	37	chr8	10469370	10469370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactccagaaacaaaatcCgagtggactgcaggggtgac	14	5	13	9	1	0	3	0	1	0	2	2	6	2	4	2	3	2	1	2	3	3	0	rs190077685	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:10469370C>T	ENST00000382483.3	-	4	2461	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	746					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAACAAAATCCGAGTGGACTG	0.652													c|||	17	0.00339457	0.0129	0	5008	,	,		17437	0		0	False		,,,				2504	0					uc003wtc.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2236-2238)tcG>tcA		Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.		C		35,3963		0,35,1964	46	54	51		2238	-9.2	0	8		51	1,8307		0,1,4153	no	coding-synonymous	RP1L1	NM_178857.5		0,36,6117	TT,TC,CC		0.012,0.8754,0.2925		746/2401	10469370	36,12270	1999	4154	6153	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469370C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2238G>A	8.37:g.10469370C>T							p.S746S	NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	2467	-			746					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2238G>A	CCDS43708.1																																																																																				0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10469370	C	T	10469370	2	4	48	1	0	0	0	0	0	0	0	1	13533	639	23	2		2	RP1L1	8	10469370	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		10469370	135894652	28	3078											
NOV	4856	broad.mit.edu	37	chr8	120435276	120435276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtcaagaagccagtgatGgtcattgggacctgcacctg	11	9	12	9	0	2	2	2	1	0	1	2	3	2	3	3	2	2	1	3	2	3	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:120435276G>T	ENST00000259526.3	+	5	1205	c.978G>T	c.(976-978)atG>atT	p.M326I	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AGCCAGTGATGGTCATTGGGA	0.537																																						uc003yoq.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(976-978)atG>atT		Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						177	164	168					8																	120435276		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435276G>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.978G>T	8.37:g.120435276G>T	ENSP00000259526:p.Met326Ile						p.M326I	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		4	1199	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		326			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.978G>T	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573131	0.86542	.	.	ENSG00000136999	ENST00000259526	T	0.25912	1.77	5.72	5.72	0.89469	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.87971	2.92	0.47183	D	0.999347	D	0.69078	0.997	D	0.79108	0.992	T	0.64972	-0.6281	10	0.72032	D	0.01	-28.7754	19.8713	0.96852	0.0:0.0:1.0:0.0	.	326	P48745	NOV_HUMAN	I	326	ENSP00000259526:M326I	ENSP00000259526:M326I	M	+	3	0	NOV	120504457	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.701000	0.92244	0.557000	0.71058	ATG		0.537	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		T	120435276	G	T	120435276	3	4	48	1	0	0	0	0	1	0	0	0	10553	1348	47	5	996	5	NOV	8	120435276	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	109965906	120435276	25928746	29	3079											
RAG1	5896	broad.mit.edu	37	chr11	36596275	36596275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgcttggccatccGtgtcaacaccttcctcagct	6	13	8	14	1	2	0	2	0	0	0	4	0	4	0	4	1	4	4	4	1	1	3	rs199474686		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:36596275G>A	ENST00000299440.5	+	2	1533	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	474			R -> C (probable disease-associated mutation found in a patient with relatively late onset of infections and isolated T-cell lymphopenia; dbSNP:rs199474678). {ECO:0000269|PubMed:20956421}.|R -> H (in OS/T(-)B(-)NK(+) SCID; atypical; dbSNP:rs199474686). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGGCCATCCGTGTCAACACC	0.557									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM010073	RAG1	M		c.(1420-1422)cGt>cAt		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							80	69	73					11																	36596275		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596275G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1421G>A	11.37:g.36596275G>A	ENSP00000299440:p.Arg474His					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R474H	p.R474H	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	1421	+	all_lung(20;0.226)	all_hematologic(20;0.107)	474		R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1421G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560020	0.86335	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.77877	-1.13;-1.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.89959	0.4085	10	0.87932	D	0	.	19.6271	0.95682	0.0:0.0:1.0:0.0	.	474	P15918	RAG1_HUMAN	H	474	ENSP00000434610:R474H;ENSP00000299440:R474H	ENSP00000299440:R474H	R	+	2	0	RAG1	36552851	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	9.476000	0.97823	2.649000	0.89929	0.650000	0.86243	CGT		0.557	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		A	36596275	G	A	36596275	3	1	48	1	0	0	0	0	1	0	0	0	13003	1145	40	1	1423	1	RAG1	11	36596275	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		36596275	98410241	30	3080											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582																																						uc001ozh.3																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1054-1056)ccA>ccC		Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.							44	51	49					11																	77937662		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937662T>G	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1056A>C	11.37:g.77937662T>G						GAB2_uc001ozg.3_Silent_p.P314P	p.P352P	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	1158	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		352					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1056A>C	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		G	77937662	T	G	77937662	2	3	48	1	0	0	0	0	0	0	0	1	6149	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-06-0237-01A-02D-1491-08	41341387	77937662	57068854	31	3081											
KCNJ5	3762	broad.mit.edu	37	chr11	128781583	128781583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcagtggcttcgtgtccGctttcctgttctccattgag	4	15	9	13	2	2	1	1	1	1	0	6	1	4	1	4	1	0	3	4	1	0	4	rs201816501		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:128781583G>A	ENST00000338350.4	+	3	767	c.415G>A	c.(415-417)Gct>Act	p.A139T	KCNJ5_ENST00000533599.1_Missense_Mutation_p.A139T|KCNJ5_ENST00000529694.1_Missense_Mutation_p.A139T			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	139					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTTCGTGTCCGCTTTCCTGTT	0.507													G|||	1	0.000199681	0	0	5008	,	,		21439	0.001		0	False		,,,				2504	0				Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(415-417)Gct>Act		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	Glibenclamide(DB01016)						155	150	152					11																	128781583		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781583G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.415G>A	11.37:g.128781583G>A	ENSP00000339960:p.Ala139Thr					KCNJ5_uc009zck.3_Missense_Mutation_p.A139T|KCNJ5_uc001qew.3_Missense_Mutation_p.A139T	p.A139T	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	1	729	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	139					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.415G>A	CCDS8479.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.5	5.013607	0.93404	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.97378	-4.36;-4.36;-4.36	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99418	1.0932	10	0.62326	D	0.03	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	139	P48544	IRK5_HUMAN	T	139	ENSP00000433295:A139T;ENSP00000339960:A139T;ENSP00000434266:A139T	ENSP00000339960:A139T	A	+	1	0	KCNJ5	128286793	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	GCT		0.507	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		A	128781583	G	A	128781583	3	1	48	1	0	0	0	0	1	0	0	0	8054	1087	38	1	417	1	KCNJ5	11	128781583	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	50843921	128781583	6224933	32	3082											
NBEA	26960	broad.mit.edu	37	chr13	36202290	36202290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttggctataagcagcgaGgaccagaagcagttcgtgct	11	10	12	8	2	0	1	0	0	0	1	1	3	0	2	1	2	4	5	1	2	4	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr13:36202290G>A	ENST00000400445.3	+	49	8056	c.7522G>A	c.(7522-7524)Gga>Aga	p.G2508R	NBEA_ENST00000537702.1_Missense_Mutation_p.G301R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2505R|NBEA_ENST00000379922.3_Missense_Mutation_p.G65R|NBEA_ENST00000310336.4_Missense_Mutation_p.G2508R|NBEA_ENST00000540320.1_Missense_Mutation_p.G2508R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2508	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAGCAGCGAGGACCAGAAGC	0.438																																						uc021rid.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(7522-7524)Gga>Aga		Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.							120	114	116					13																	36202290		1907	4135	6042	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36202290G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7522G>A	13.37:g.36202290G>A	ENSP00000383295:p.Gly2508Arg					NBEA_uc021ric.1_Missense_Mutation_p.G2505R|NBEA_uc010abi.3_Missense_Mutation_p.G1164R|NBEA_uc010tee.1_Missense_Mutation_p.G301R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G301R|NBEA_uc010teg.1_Missense_Mutation_p.G301R|NBEA_uc001uvd.3_Missense_Mutation_p.G65R	p.G2508R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	48	8056	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2508			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7522G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241600	0.95272	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.6	5.6	0.85130	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94153	0.7407	10	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	2508;65;2505	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	R	2508;2508;2505;2508;1135;65;301;65	ENSP00000440951:G2508R;ENSP00000383295:G2508R;ENSP00000369271:G2505R;ENSP00000308534:G2508R;ENSP00000440233:G301R;ENSP00000369254:G65R	ENSP00000308534:G2508R	G	+	1	0	NBEA	35100290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.722000	0.98770	2.652000	0.90054	0.563000	0.77884	GGA		0.438	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	36202290	G	A	36202290	3	1	48	1	0	0	0	0	1	0	0	0	10187	1001	35	3	7716	3	NBEA	13	36202290	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		36202290	78967588	33	3083											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G																															atgggtccccagccatcggcINSgggtgaacccacccacactg																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						uc001ypb.2																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)cggfs		Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	p.R556fs	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	7	1809_1810	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		G	105174271	-	G	105174270	7	5	48	1	0	1	1	0	0	0	0	0	7734	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-06-0237-01A-02D-1491-08		105174270	2175270	34	3084											
ZWILCH	55055	broad.mit.edu	37	chr15	66806421	66806421	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattcatagtggaaaaagtGgtaagtactggtttgacttt	12	15	11	3	0	1	1	1	1	0	0	1	2	1	2	0	3	1	4	0	3	6	7	rs183748228		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:66806421G>A	ENST00000307897.5	+	3	581	c.201G>A	c.(199-201)gtG>gtA	p.V67V	ZWILCH_ENST00000565627.1_Intron|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000568588.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	67					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGGAAAAAGTGGTAAGTACTG	0.358													G|||	1	0.000199681	0	0	5008	,	,		17126	0.001		0	False		,,,				2504	0					uc002aqb.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.e3+1		Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.							56	55	56					15																	66806421		2201	4298	6499	SO:0001630	splice_region_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66806421G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.201+1G>A	15.37:g.66806421G>A						RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.3_Splice_Site|ZWILCH_uc010bhv.3_Splice_Site	p.V67_splice	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			3	447	+			67					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.201_splice	CCDS10219.1																																																																																				0.358	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	Silent	A	66806421	G	A	66806421	5	1	48	1	0	0	0	0	0	0	1	0	18245	1362	47	3	211	3	ZWILCH	15	66806421	Splice_Site	SNP	G	TCGA-06-0237-01A-02D-1491-08		66806421	35724971	35	3085											
YPEL3	83719	broad.mit.edu	37	chr16	30106203	30106203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccgctcctcggctggcccGcagcccacgttcaccctgtg	4	7	10	20	4	1	0	1	0	0	0	3	0	2	0	5	2	1	4	5	2	0	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:30106203G>A	ENST00000398838.4	-	4	390	c.177C>T	c.(175-177)tgC>tgT	p.C59C	YPEL3_ENST00000566595.1_Silent_p.C59C|YPEL3_ENST00000566134.1_Intron|TBX6_ENST00000395224.2_5'Flank|TBX6_ENST00000553607.1_5'Flank|YPEL3_ENST00000562641.1_Silent_p.C97C|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Silent_p.C97C|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000563788.1_Silent_p.C59C	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	59						nucleus (GO:0005634)				endometrium(1)|lung(2)	3						CGGCTGGCCCGCAGCCCACGT	0.632																																						uc002dwl.3																			0				endometrium(1)|lung(2)	3						c.(289-291)tgC>tgT		Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.							38	44	42					16																	30106203		2144	4276	6420	SO:0001819	synonymous_variant	83719					nucleolus		g.chr16:30106203G>A	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.177C>T	16.37:g.30106203G>A						BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Silent_p.C59C|YPEL3_uc002dwn.1_Silent_p.C97C|AK097453_uc002dwo.2_5'Flank	p.C97C	NM_031477	NP_001138996	P61236	YPEL3_HUMAN			2	1009	-			59					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Silent	SNP	ENST00000398838.4	37	c.291C>T	CCDS45459.1																																																																																				0.632	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477		A	30106203	G	A	30106203	2	1	48	1	0	0	0	0	0	0	0	1	17488	1079	38	1		1	YPEL3	16	30106203	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		30106203	60248550	36	3086											
GPR114	221188	broad.mit.edu	37	chr16	57597817	57597817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccccgccgagctgaccCgggacgcctgcaagacccgc	7	4	12	18	5	0	2	0	1	0	1	1	4	1	3	6	1	2	3	6	1	1	1	rs546977099	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:57597817C>T	ENST00000340339.4	+	5	878	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.R119W	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	119					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGAGCTGACCCGGGACGCCTG	0.632													C|||	2	0.000399361	0	0	5008	,	,		15396	0		0	False		,,,				2504	0.002					uc002ely.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(355-357)Cgg>Tgg		Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.							43	47	46					16																	57597817		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57597817C>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.355C>T	16.37:g.57597817C>T	ENSP00000342981:p.Arg119Trp					GPR114_uc002elx.4_Missense_Mutation_p.R119W|GPR114_uc010vhr.2_Missense_Mutation_p.R119W	p.R119W	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			4	878	+			119					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.355C>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530382	0.45073	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.31247	1.5;1.5	5.03	-2.78	0.05859	.	2.470240	0.01466	N	0.016061	T	0.37785	0.1016	L	0.40543	1.245	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.57425	0.82;0.543	T	0.37454	-0.9705	10	0.62326	D	0.03	.	5.1116	0.14811	0.5584:0.269:0.0:0.1726	.	119;119	B4E148;Q8IZF4	.;GP114_HUMAN	W	119	ENSP00000342981:R119W;ENSP00000290823:R119W	ENSP00000342981:R119W	R	+	1	2	GPR114	56155318	0.000000	0.05858	0.007000	0.13788	0.023000	0.10783	-0.707000	0.05041	-0.417000	0.07461	-0.333000	0.08304	CGG		0.632	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		T	57597817	C	T	57597817	3	4	48	1	0	0	0	0	1	0	0	0	6631	643	23	2	369	2	GPR114	16	57597817	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	27491614	57597817	32756936	37	3087											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(583-585)aTc>aCc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							100	89	93					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	p.I195T	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	48	1	0	0	0	0	1	0	0	0	16378	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08		7578265	73616945	38	3088											
LIG3	3980	broad.mit.edu	37	chr17	33323604	33323604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttacagaaagcagccttCcaggatgctaatgtctgcct	10	10	8	13	0	1	1	0	0	1	1	2	2	2	2	4	1	5	2	4	1	3	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:33323604C>T	ENST00000378526.4	+	11	1888	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	LIG3_ENST00000262327.5_Silent_p.F585F	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	585					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGCAGCCTTCCAGGATGCTA	0.428								Other BER factors																														uc002hik.2																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1753-1755)ttC>ttT	Other BER factors	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	Bleomycin(DB00290)						219	185	197					17																	33323604		2203	4300	6503	SO:0001819	synonymous_variant	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33323604C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1755C>T	17.37:g.33323604C>T						LIG3_uc002hij.3_Silent_p.F585F	p.F585F	NM_013975	NP_039269	P49916	DNLI3_HUMAN			10	1884	+		Ovarian(249;0.17)	585					Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	c.1755C>T	CCDS11284.2																																																																																				0.428	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		T	33323604	C	T	33323604	2	4	48	1	0	0	0	0	0	0	0	1	8782	854	30	3		3	LIG3	17	33323604	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	25745339	33323604	47871606	39	3089											
XYLT2	64132	broad.mit.edu	37	chr17	48437602	48437602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggagctctctgtcccccGaccccaaatcagagctgggg	7	7	12	15	1	2	1	1	0	1	1	4	3	3	2	4	3	2	3	4	3	1	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:48437602G>A	ENST00000017003.2	+	11	2597	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	850					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTGTCCCCCGACCCCAAATC	0.647																																						uc002iqo.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2548-2550)Gac>Aac		Homo sapiens xylosyltransferase II (XYLT2), mRNA.							26	28	27					17																	48437602		2202	4300	6502	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437602G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2548G>A	17.37:g.48437602G>A	ENSP00000017003:p.Asp850Asn					XYLT2_uc010dbo.3_Non-coding_Transcript	p.D850N	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			10	2657	+	Breast(11;7.18e-19)		850					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2548G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182183	0.94885	.	.	ENSG00000015532	ENST00000017003	T	0.17528	2.27	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.80616	2.505	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.49194	-0.8965	10	0.87932	D	0	-25.6206	18.4802	0.90808	0.0:0.0:1.0:0.0	.	850	Q9H1B5	XYLT2_HUMAN	N	850	ENSP00000017003:D850N	ENSP00000017003:D850N	D	+	1	0	XYLT2	45792601	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	9.298000	0.96132	2.586000	0.87340	0.655000	0.94253	GAC		0.647	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		A	48437602	G	A	48437602	3	1	48	1	0	0	0	0	1	0	0	0	17461	1058	37	2	2590	2	XYLT2	17	48437602	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	15113998	48437602	32757608	40	3090											
NOL11	25926	broad.mit.edu	37	chr17	65733682	65733682	+	Frame_Shift_Del	DEL	C	C	-																															atttttggctctgaagcagaCacctgactttcatactgtca																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:65733682delC	ENST00000253247.4	+	12	1392	c.1277delC	c.(1276-1278)acafs	p.T426fs	NOL11_ENST00000535137.1_Frame_Shift_Del_p.T244fs	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	426					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGAAGCAGACACCTGACTTT	0.408																																						uc002jgd.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1276-1278)acafs		Homo sapiens nucleolar protein 11 (NOL11), mRNA.							113	113	113					17																	65733682		2203	4300	6503	SO:0001589	frameshift_variant	25926					nucleolus		g.chr17:65733682delC	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1277delC	17.37:g.65733682delC	ENSP00000253247:p.Thr426fs					NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	p.T426fs	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	1280	+	all_cancers(12;1.54e-10)		426					B7Z5V9|Q7L5S1|Q9UG18	Frame_Shift_Del	DEL	ENST00000253247.4	37	c.1277delC	CCDS11671.1																																																																																				0.408	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		-	65733682	C	-	65733682	7	5	48	1	0	1	0	1	0	0	0	0	10521	478	17	0	1323	0	NOL11	17	65733682	Frame_Shift_Del	DEL	C	TCGA-06-0237-01A-02D-1491-08	17296080	65733682	15461528	41	3091											
DCC	1630	broad.mit.edu	37	chr18	50734089	50734089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttataaactggaaggccTgaaaaaattcaccgaatata	18	10	6	7	1	2	1	1	1	1	0	2	3	2	2	2	2	1	0	2	2	10	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:50734089T>C	ENST00000442544.2	+	11	2379	c.1763T>C	c.(1762-1764)cTg>cCg	p.L588P	DCC_ENST00000412726.1_Missense_Mutation_p.L436P|DCC_ENST00000581580.1_Missense_Mutation_p.L243P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	588	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGAAGGCCTGAAAAAATTC	0.383																																						uc002lfe.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1762-1764)cTg>cCg		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							136	144	141					18																	50734089		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734089T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1763T>C	18.37:g.50734089T>C	ENSP00000389140:p.Leu588Pro					DCC_uc010xdr.1_Missense_Mutation_p.L436P|DCC_uc010dpf.2_Missense_Mutation_p.L243P	p.L588P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2379	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	588			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1763T>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.167949	0.38315	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.85171	-1.95;-1.95	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.95736	0.8613	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.97483	1.0048	10	0.87932	D	0	.	15.1823	0.72968	0.0:0.0:0.0:1.0	.	436;436;588	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	P	588;521;436	ENSP00000389140:L588P;ENSP00000397322:L436P	ENSP00000304146:L521P	L	+	2	0	DCC	48988087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.587000	0.74071	2.240000	0.73641	0.528000	0.53228	CTG		0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50734089	T	C	50734089	3	2	48	1	0	0	0	0	1	0	0	0	4282	1580	55	4	1805	4	DCC	18	50734089	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08		50734089	27343159	42	3092											
SALL3	27164	broad.mit.edu	37	chr18	76753975	76753975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcaaacgtcggaaaccTcgaagctgcagcagctggtg	11	6	13	11	4	0	0	0	0	0	0	2	3	0	1	1	2	7	5	1	2	3	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:76753975T>G	ENST00000537592.2	+	2	1984	c.1984T>G	c.(1984-1986)Tcg>Gcg	p.S662A	SALL3_ENST00000575389.2_Missense_Mutation_p.S662A|SALL3_ENST00000536229.3_Missense_Mutation_p.S529A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	662					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGAAACCTCGAAGCTGCA	0.637																																						uc002lmt.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1984-1986)Tcg>Gcg		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							29	30	29					18																	76753975		2201	4299	6500	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753975T>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1984T>G	18.37:g.76753975T>G	ENSP00000441823:p.Ser662Ala					SALL3_uc010dra.3_Missense_Mutation_p.S269A	p.S662A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1984	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	662					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1984T>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974817	0.34848	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.11169	2.8;3.27	5.13	5.13	0.70059	.	0.000000	0.49916	D	0.000130	T	0.18130	0.0435	N	0.25094	0.71	0.80722	D	1	B;D	0.64830	0.357;0.994	B;D	0.72625	0.444;0.978	T	0.14090	-1.0485	10	0.14656	T	0.56	-32.9244	15.2627	0.73637	0.0:0.0:0.0:1.0	.	394;662	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	662;662;394	ENSP00000441823:S662A;ENSP00000439975:S662A	ENSP00000299466:S662A	S	+	1	0	SALL3	74854963	1.000000	0.71417	0.971000	0.41717	0.753000	0.42808	7.932000	0.87634	2.061000	0.61500	0.533000	0.62120	TCG		0.637	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		G	76753975	T	G	76753975	3	3	48	1	0	0	0	0	1	0	0	0	13812	1551	54	5	1990	5	SALL3	18	76753975	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	26019886	76753975	1323273	43	3093											
CCDC94	55702	broad.mit.edu	37	chr19	4268683	4268683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacagtgacgacagcaacgGcagcaactgagccctcccag	12	3	12	14	2	0	2	0	2	0	0	1	4	1	3	2	2	5	3	2	2	2	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:4268683G>A	ENST00000262962.7	+	8	1030	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	321										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GACAGCAACGGCAGCAACTGA	0.642																																						uc002lzv.4																			0				NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7						c.(961-963)gGc>gAc		Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.							72	58	63					19																	4268683		2201	4299	6500	SO:0001583	missense	55702							g.chr19:4268683G>A	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.962G>A	19.37:g.4268683G>A	ENSP00000262962:p.Gly321Asp						p.G321D	NM_018074	NP_060544	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	7	995	+			321					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.962G>A	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499497	0.26861	.	.	ENSG00000105248	ENST00000262962	T	0.42513	0.97	5.12	2.97	0.34412	.	0.863803	0.10128	N	0.712400	T	0.27027	0.0662	L	0.34521	1.04	0.19775	N	0.99995	B	0.27823	0.19	B	0.27608	0.081	T	0.24512	-1.0158	10	0.05436	T	0.98	-7.0602	8.078	0.30729	0.1921:0.0:0.8079:0.0	.	321	Q9BW85	CCD94_HUMAN	D	321	ENSP00000262962:G321D	ENSP00000262962:G321D	G	+	2	0	CCDC94	4219683	0.106000	0.21978	0.307000	0.25127	0.871000	0.50021	0.307000	0.19296	1.171000	0.42768	0.555000	0.69702	GGC		0.642	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		A	4268683	G	A	4268683	3	1	48	1	0	0	0	0	1	0	0	0	2873	1203	42	3	992	3	CCDC94	19	4268683	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		4268683	54860300	44	3094											
CYP4F2	8529	broad.mit.edu	37	chr19	15989717	15989717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaccaccttcatctccGccatcgcgaacgtctgcccg	7	7	8	19	5	3	0	1	0	2	0	5	2	3	1	6	1	2	0	6	1	1	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:15989717G>A	ENST00000221700.6	-	13	1522	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.A476V(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCATCTCCGCCATCGCGAA	0.672																																						uc002nbs.1																			1	Substitution - Missense(1)	p.A476V(2)|p.A476A(1)|p.M475K(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1426-1428)gCg>gTg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.							48	46	46					19																	15989717		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989717G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1427C>T	19.37:g.15989717G>A	ENSP00000221700:p.Ala476Val					CYP4F2_uc010xot.1_Missense_Mutation_p.A327V	p.A476V	NM_001082	NP_001073	P78329	CP4F2_HUMAN			12	1477	-			476						Missense_Mutation	SNP	ENST00000221700.6	37	c.1427C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	8.574	0.880710	0.17467	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.65916	-0.18	2.62	-3.98	0.04082	.	0.000000	0.64402	U	0.000006	T	0.41719	0.1171	L	0.37897	1.145	0.21020	N	0.999801	B	0.23128	0.08	B	0.30782	0.12	T	0.21245	-1.0251	10	0.42905	T	0.14	.	1.7186	0.02907	0.1251:0.1576:0.3779:0.3394	.	476	P78329	CP4F2_HUMAN	V	476;327	ENSP00000221700:A476V	ENSP00000221700:A476V	A	-	2	0	CYP4F2	15850717	0.018000	0.18449	0.255000	0.24374	0.126000	0.20510	1.075000	0.30716	-0.417000	0.07461	0.484000	0.47621	GCG		0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		A	15989717	G	A	15989717	3	1	48	1	0	0	0	0	1	0	0	0	4188	1087	38	1	139	1	CYP4F2	19	15989717	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	11721034	15989717	43139266	45	3095											
FFAR3	2865	broad.mit.edu	37	chr19	35850542	35850542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccatgtcgtgggctatatCtgcggtgaaagcccggcgtg	6	10	14	11	4	1	1	0	1	1	0	3	1	2	1	2	3	2	1	2	3	3	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:35850542C>T	ENST00000327809.4	+	2	951	c.750C>T	c.(748-750)atC>atT	p.I250I	FFAR3_ENST00000594310.1_Silent_p.I250I	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	250					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGGCTATATCTGCGGTGAAA	0.612																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.3																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(748-750)atC>atT		Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.							265	193	218					19																	35850542		2201	4298	6499	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850542C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.750C>T	19.37:g.35850542C>T						FFAR3_uc021usm.1_Silent_p.I250I	p.I250I	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		1	825	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		250					B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.750C>T	CCDS12459.1																																																																																				0.612	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		T	35850542	C	T	35850542	2	4	48	1	0	0	0	0	0	0	0	1	5829	903	32	3		3	FFAR3	19	35850542	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	19860825	35850542	23278441	46	3096											
CYP2B6	1555	broad.mit.edu	37	chr19	41515926	41515926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgcacacagtgaattcAgccaccagaacctcaacctc	14	5	5	17	1	2	2	2	1	0	1	3	2	2	2	5	0	4	1	5	0	4	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:41515926A>T	ENST00000324071.4	+	6	857	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	284					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CAGTGAATTCAGCCACCAGAA	0.562																																						uc002opr.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(850-852)Agc>Tgc		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						161	115	130					19																	41515926		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515926A>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.850A>T	19.37:g.41515926A>T	ENSP00000324648:p.Ser284Cys					CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.S284C	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	857	+			284					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.850A>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.503463	0.44558	.	.	ENSG00000197408	ENST00000324071	T	0.01572	4.76	4.58	-0.365	0.12549	.	0.381500	0.28047	N	0.016815	T	0.01695	0.0054	L	0.41906	1.305	0.09310	N	0.999991	P	0.46578	0.88	B	0.43754	0.43	T	0.48536	-0.9027	10	0.39692	T	0.17	.	3.1585	0.06512	0.4862:0.291:0.1317:0.0911	.	284	P20813	CP2B6_HUMAN	C	284	ENSP00000324648:S284C	ENSP00000324648:S284C	S	+	1	0	CYP2B6	46207766	0.000000	0.05858	0.117000	0.21633	0.062000	0.15995	-0.754000	0.04787	-0.122000	0.11766	0.450000	0.29827	AGC		0.562	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41515926	A	T	41515926	3	4	48	1	0	0	0	0	1	0	0	0	4164	188	7	5	872	5	CYP2B6	19	41515926	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08	5665384	41515926	17613057	47	3097											
SLC17A9	63910	broad.mit.edu	37	chr20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttggcctctccagcGtctttgctctgtgcctgggc	1	13	13	14	1	3	0	0	0	3	0	4	0	3	0	4	3	3	1	4	3	0	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																						uc002yea.4																			1	Substitution - Missense(1)	p.V324I(2)	ovary(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(970-972)Gtc>Atc		Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.							157	172	167					20																	61596986		2121	4242	6363	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596986G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile					SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	p.V324I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			9	1154	+			324					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.970G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		A	61596986	G	A	61596986	3	1	48	1	0	0	0	0	1	0	0	0	14424	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		61596986	1428534	48	3098											
EEF1A2	1917	broad.mit.edu	37	chr20	62122078	62122078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccggcccacgggcacCgtgccaatgcctgcagaggg	7	4	13	17	3	0	1	0	0	0	1	1	1	1	1	6	3	3	2	6	3	1	0	rs370695849		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:62122078C>T	ENST00000298049.7	-	5	853	c.783G>A	c.(781-783)acG>acA	p.T261T	EEF1A2_ENST00000217182.3_Silent_p.T261T			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	261					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGGGCACCGTGCCAATGC	0.647													c|||	1	0.000199681	0	0	5008	,	,		13127	0.001		0	False		,,,				2504	0					uc002yfe.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(781-783)acG>acA		Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.							21	23	22					20																	62122078		2189	4275	6464	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62122078C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.783G>A	20.37:g.62122078C>T							p.T261T	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	949	-	all_cancers(38;9.45e-12)		261					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.783G>A	CCDS13522.1																																																																																				0.647	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62122078	C	T	62122078	2	4	48	1	0	0	0	0	0	0	0	1	4924	639	23	2		2	EEF1A2	20	62122078	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	525092	62122078	903442	49	3099											
DSCR6	53820	broad.mit.edu	37	chr21	38380466	38380466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgttccagccccgcgccGtggcgaccttggatccagac	5	7	12	17	5	0	1	0	0	0	1	2	3	2	2	7	2	2	1	7	2	0	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:38380466G>A	ENST00000329553.2	+	2	324	c.114G>A	c.(112-114)ccG>ccA	p.P38P	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	38					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GCCCCGCGCCGTGGCGACCTT	0.577																																						uc002yvv.3																			0		p.P38>?(1)		NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(112-114)ccG>ccA		Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.							50	49	49					21																	38380466		2203	4300	6503	SO:0001819	synonymous_variant	53820					nucleus		g.chr21:38380466G>A	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.114G>A	21.37:g.38380466G>A						DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	p.P38P	NM_018962	NP_061835	P57055	DSCR6_HUMAN			1	324	+		Myeloproliferative disorder(46;0.0632)	38						Silent	SNP	ENST00000329553.2	37	c.114G>A	CCDS13648.1																																																																																				0.577	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			A	38380466	G	A	38380466	2	1	48	1	0	0	0	0	0	0	0	1	4773	1132	40	1		1	DSCR6	21	38380466	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		38380466	9749429	50	3100											
SIK1	150094	broad.mit.edu	37	chr21	44841555	44841555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttgccatccagcaggagGttctcggtcttgaggtcccg	6	11	13	11	2	2	1	0	1	2	0	5	2	4	2	3	4	2	3	3	4	0	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:44841555G>T	ENST00000270162.6	-	5	594	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCAGCAGGAGGTTCTCGGTCT	0.617																																						uc002zdf.2																			0		p.E153K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(460-462)aaC>aaA		Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.							87	73	78					21																	44841555		2203	4300	6503	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44841555G>T	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.462C>A	21.37:g.44841555G>T	ENSP00000270162:p.Asn154Lys						p.N154K	NM_173354	NP_775490	P57059	SIK1_HUMAN			4	589	-			154			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.462C>A	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281742	0.80692	.	.	ENSG00000142178	ENST00000270162	D	0.91996	-2.95	5.26	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	H	0.97587	4.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96051	0.9031	10	0.87932	D	0	.	9.2118	0.37322	0.2215:0.0:0.7785:0.0	.	154	P57059	SIK1_HUMAN	K	154	ENSP00000270162:N154K	ENSP00000270162:N154K	N	-	3	2	SIK1	43665983	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.666000	0.46799	0.619000	0.30197	-0.224000	0.12420	AAC		0.617	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		T	44841555	G	T	44841555	3	4	48	1	0	0	0	0	1	0	0	0	14317	1252	44	5	1929	5	SIK1	21	44841555	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	6461089	44841555	3288340	51	3101											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766165	27766165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacctaccaatttgcagtgGgtggacaagatcagtttgta	12	12	10	7	0	1	1	1	0	0	1	1	2	1	2	2	2	3	3	2	2	5	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:27766165G>T	ENST00000451261.2	+	5	1552	c.1153G>T	c.(1153-1155)Ggt>Tgt	p.G385C		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	385										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTTGCAGTGGGTGGACAAGA	0.398																																						uc011mjy.2																			0		p.V384F(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1153-1155)Ggt>Tgt		Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.							132	94	106					X																	27766165		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766165G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1153G>T	X.37:g.27766165G>T	ENSP00000462745:p.Gly385Cys						p.G385C	NM_001136533	NP_001130005					0	1240	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1153G>T	CCDS59162.1																																																																																				0.398	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		T	27766165	G	T	27766165	3	4	48	1	0	0	0	0	1	0	0	0	4278	1232	43	5	1155	5	DCAF8L2	23	27766165	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		27766165	127504395	52	3102											
SYTL5	94122	broad.mit.edu	37	chrX	37931389	37931389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcggcactgatgttgtccGacagtccattttaagaagaa	11	12	9	9	2	1	3	0	1	1	2	4	4	3	3	2	1	0	2	2	1	3	3	rs151098113	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:37931389G>A	ENST00000357972.5	+	4	965	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SYTL5_ENST00000456733.2_Missense_Mutation_p.R140Q|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R140Q			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	140					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GATGTTGTCCGACAGTCCATT	0.378													G|||	2	0.000529801	0.0015	0	3775	,	,		14657	0		0	False		,,,				2504	0					uc004ddx.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(418-420)cGa>cAa		Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG	5,3828		0,4,1,1627,570	157	132	140		419,419,419	5.3	1	X	dbSNP_134	140	2,6726		0,2,0,2426,1872	yes	missense,missense,missense	SYTL5	NM_001163334.1,NM_001163335.1,NM_138780.2	43,43,43	0,6,1,4053,2442	AA,AG,A,GG,G		0.0297,0.1304,0.0663	probably-damaging,probably-damaging,probably-damaging	140/753,140/731,140/731	37931389	7,10554	2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37931389G>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.419G>A	X.37:g.37931389G>A	ENSP00000350657:p.Arg140Gln					SYTL5_uc004ddu.3_Missense_Mutation_p.R140Q|SYTL5_uc004ddv.3_Missense_Mutation_p.R140Q	p.R140Q	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN			2	775	+			140					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.419G>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948490	0.92593	0.001304	2.97E-4	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.26067	1.76;1.76;2.11	5.33	5.33	0.75918	.	0.172827	0.49305	D	0.000147	T	0.50222	0.1603	M	0.74881	2.28	0.32496	N	0.53957	D;D	0.89917	1.0;0.995	D;P	0.64237	0.923;0.691	T	0.62868	-0.6763	10	0.56958	D	0.05	-7.957	16.9554	0.86258	0.0:0.0:1.0:0.0	.	140;140	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	Q	140	ENSP00000297875:R140Q;ENSP00000350657:R140Q;ENSP00000395220:R140Q	ENSP00000297875:R140Q	R	+	2	0	SYTL5	37816333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.631000	0.61304	2.354000	0.79902	0.513000	0.50165	CGA		0.378	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		A	37931389	G	A	37931389	3	1	48	1	0	0	0	0	1	0	0	0	15483	1058	37	2	429	2	SYTL5	23	37931389	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	10165224	37931389	117339171	53	3103											
MAOA	4128	broad.mit.edu	37	chrX	43571152	43571152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catttcggggcgcctttccaCcagtatggaatcccattgca	8	11	9	13	2	0	0	0	0	0	0	3	1	2	1	4	3	1	2	4	3	2	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:43571152C>A	ENST00000338702.3	+	4	463	c.340C>A	c.(340-342)Cca>Aca	p.P114T	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	114					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CGCCTTTCCACCAGTATGGAA	0.368																																						uc004dfy.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(340-342)Cca>Aca		Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						144	135	139					X																	43571152		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43571152C>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.340C>A	X.37:g.43571152C>A	ENSP00000340684:p.Pro114Thr					MAOA_uc011mkw.2_5'UTR	p.P114T	NM_000240	NP_000231	P21397	AOFA_HUMAN			3	521	+			114					B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.340C>A	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410699	0.25465	.	.	ENSG00000189221	ENST00000338702	D	0.93076	-3.16	5.34	5.34	0.76211	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	L	0.38649	1.16	0.80722	D	1	B	0.17667	0.023	B	0.15484	0.013	D	0.85440	0.1154	10	0.42905	T	0.14	.	12.4789	0.55831	0.0:0.918:0.0:0.082	.	114	P21397	AOFA_HUMAN	T	114	ENSP00000340684:P114T	ENSP00000340684:P114T	P	+	1	0	MAOA	43456096	0.997000	0.39634	0.935000	0.37517	0.459000	0.32528	2.444000	0.44890	2.224000	0.72417	0.508000	0.49915	CCA		0.368	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		A	43571152	C	A	43571152	3	1	48	1	0	0	0	0	1	0	0	0	9225	507	18	5	354	5	MAOA	23	43571152	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	5639763	43571152	111699408	54	3104											
SLC38A5	92745	broad.mit.edu	37	chrX	48317931	48317931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcttacctggatcttGggccaggataagaaaggctc	11	9	13	8	0	1	1	0	0	1	1	2	4	1	4	2	5	2	2	2	5	4	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:48317931G>A	ENST00000376876.3	-	15	2151	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	SLC38A5_ENST00000376875.1_Silent_p.P385P|SLC38A5_ENST00000317669.5_Silent_p.P436P|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	436					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCTGGATCTTGGGCCAGGATA	0.582																																						uc010nid.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(1306-1308)ccC>ccT		Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.							47	39	42					X																	48317931		2199	4298	6497	SO:0001819	synonymous_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317931G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1308C>T	X.37:g.48317931G>A						SLC38A5_uc004djk.4_Silent_p.P385P	p.P436P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			15	1486	-			436					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	c.1308C>T	CCDS14293.1																																																																																				0.582	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		A	48317931	G	A	48317931	2	1	48	1	0	0	0	0	0	0	0	1	14607	1335	47	3		3	SLC38A5	23	48317931	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	4746779	48317931	106952629	55	3105											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177186	89177186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagacacctcaatcatgtcGagaaataacgcagatacagg	17	6	8	10	2	2	3	2	0	0	3	3	4	2	3	1	1	2	1	1	1	5	2	rs200638786		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:89177186G>A	ENST00000561129.2	+	1	232	c.102G>A	c.(100-102)tcG>tcA	p.S34S	TGIF2LX_ENST00000283891.5_Silent_p.S34S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAATCATGTCGAGAAATAACG	0.577																																						uc022bzr.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(100-102)tcG>tcA		Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.							22	26	24					X																	89177186		2201	4269	6470	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177186G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.102G>A	X.37:g.89177186G>A						TGIF2LX_uc004efe.3_Silent_p.S34S	p.S34S	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			0	102	+			34					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.102G>A	CCDS14459.1																																																																																				0.577	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		A	89177186	G	A	89177186	2	1	48	1	0	0	0	0	0	0	0	1	15824	1045	37	2		2	TGIF2LX	23	89177186	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	40859255	89177186	66093374	56	3106											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-																															gtaatcttctaagccagcaaCagcagcagcagcagcagcag																								rs374739932|rs374561693		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						uc011mxu.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1405-1407)cagdel		Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	p.Q477del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN			2	1715_1717	+	Acute lymphoblastic leukemia(192;6.56e-05)		502					B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1405_1407delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		-	149639327	CAG	-	149639325	7	5	48	1	0	1	0	1	0	0	0	0	9208	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-06-0237-01A-02D-1491-08	60462139	149639325	5631235	57	3107											
ACAP3	116983	broad.mit.edu	37	chr1	1229020	1229020	+	Frame_Shift_Del	DEL	A	A	-																															gctccgtggggctgcccgccAgggcgcccgggggaccaggg																										TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:1229020delA	ENST00000354700.5	-	24	2631	c.2429delT	c.(2428-2430)ctgfs	p.L810fs	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Frame_Shift_Del_p.L735fs	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	810					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCTGCCCGCCAGGGCGCCCGG	0.721																																						uc001aeb.2																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2428-2430)ctgfs		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.							4	5	4					1																	1229020		1903	3781	5684	SO:0001589	frameshift_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1229020delA	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2429delT	1.37:g.1229020delA	ENSP00000346733:p.Leu810fs					ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs	p.L810fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			23	2503	-			810					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Frame_Shift_Del	DEL	ENST00000354700.5	37	c.2429delT	CCDS19.2																																																																																				0.721	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		-	1229020	A	-	1229020	7	5	49	1	0	1	0	1	0	0	0	0	120	188	7	0	79	0	ACAP3	1	1229020	Frame_Shift_Del	DEL	A	TCGA-06-0238-01A-02D-1492-08		1229020	248021601	1	3108											
KPRP	448834	broad.mit.edu	37	chr1	152732806	152732806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcactgaacagcacCgctctcggagcaccagcaga	11	5	11	14	2	2	2	1	1	1	1	3	4	2	4	2	2	5	5	2	2	1	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:152732806C>T	ENST00000606109.1	+	1	770	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	KPRP_ENST00000368773.1_Missense_Mutation_p.R248C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	248						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACAGCACCGCTCTCGGAG	0.612																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(742-744)Cgc>Tgc		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							56	62	60					1																	152732806		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732806C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.742C>T	1.37:g.152732806C>T	ENSP00000475216:p.Arg248Cys					KPRP_uc021ozf.1_Missense_Mutation_p.R248C	p.R248C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	800	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		248						Missense_Mutation	SNP	ENST00000606109.1	37	c.742C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587585	0.28268	.	.	ENSG00000203786	ENST00000368773	T	0.14640	2.49	5.56	2.46	0.29980	.	0.000000	0.43579	D	0.000558	T	0.11495	0.0280	L	0.32530	0.975	0.09310	N	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.04607	-1.0939	10	0.87932	D	0	-22.9947	9.1149	0.36750	0.2877:0.5726:0.1398:0.0	.	248	Q5T749	KPRP_HUMAN	C	248	ENSP00000357762:R248C	ENSP00000357762:R248C	R	+	1	0	KPRP	150999430	0.000000	0.05858	0.403000	0.26384	0.004000	0.04260	-0.258000	0.08733	0.803000	0.34113	-0.169000	0.13324	CGC		0.612	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152732806	C	T	152732806	3	4	49	1	0	0	0	0	1	0	0	0	8436	652	23	2	744	2	KPRP	1	152732806	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	151503786	152732806	96517815	2	3109											
OR10Z1	128368	broad.mit.edu	37	chr1	158577000	158577000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatggctgtgcttccttcGtgtacctgaggcccaaagcc	7	12	10	12	1	0	1	0	1	0	0	2	1	1	1	4	2	3	3	4	2	3	4	rs191031344		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158577000G>A	ENST00000361284.1	+	1	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTTCCTTCGTGTACCTGAG	0.493																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(772-774)Gtg>Atg		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	200	204	202		772	3.9	1	1		202	0,8600		0,0,4300	no	missense	OR10Z1	NM_001004478.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	258/314	158577000	1,13005	2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577000G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.772G>A	1.37:g.158577000G>A	ENSP00000354707:p.Val258Met						p.V258M	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			0	772	+	all_hematologic(112;0.0378)		258					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.772G>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913915	0.17907	2.27E-4	0.0	ENSG00000198967	ENST00000361284	T	0.00051	8.81	5.05	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.147369	0.31797	N	0.007054	T	0.00039	0.0001	N	0.20685	0.6	0.20403	N	0.999905	B	0.06786	0.001	B	0.04013	0.001	T	0.53215	-0.8470	10	0.02654	T	1	.	5.5982	0.17339	0.7673:0.0:0.0824:0.1503	.	258	Q8NGY1	O10Z1_HUMAN	M	258	ENSP00000354707:V258M	ENSP00000354707:V258M	V	+	1	0	OR10Z1	156843624	0.863000	0.29885	1.000000	0.80357	0.842000	0.47809	1.698000	0.37794	0.931000	0.37242	-0.295000	0.09555	GTG		0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		A	158577000	G	A	158577000	3	1	49	1	0	0	0	0	1	0	0	0	10923	1145	40	1	774	1	OR10Z1	1	158577000	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	5844194	158577000	90673621	3	3110											
SPTA1	6708	broad.mit.edu	37	chr1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcccagtcttcacctagctCcactgatgtcgctatagcct	7	12	6	16	1	2	1	1	1	1	0	5	1	4	1	4	0	2	2	4	0	3	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158650498C>G	ENST00000368147.4	-	5	733	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	185					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(553-555)Gag>Cag		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							93	91	92					1																	158650498		1885	4123	6008	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650498C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.553G>C	1.37:g.158650498C>G	ENSP00000357129:p.Glu185Gln						p.E185Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	752	-	all_hematologic(112;0.0378)		185					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.553G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382283	0.61845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37411	1.2;1.2	5.07	4.16	0.48862	.	0.000000	0.32640	N	0.005834	T	0.56352	0.1979	M	0.90425	3.115	0.45704	D	0.998619	D	0.76494	0.999	D	0.76575	0.988	T	0.65755	-0.6091	10	0.54805	T	0.06	.	12.438	0.55610	0.0:0.9187:0.0:0.0813	.	185	P02549	SPTA1_HUMAN	Q	185	ENSP00000357130:E185Q;ENSP00000357129:E185Q	ENSP00000357129:E185Q	E	-	1	0	SPTA1	156917122	1.000000	0.71417	0.866000	0.34008	0.298000	0.27526	5.360000	0.66086	1.368000	0.46115	0.650000	0.86243	GAG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158650498	C	G	158650498	3	3	49	1	0	0	0	0	1	0	0	0	15115	864	30	5	6898	5	SPTA1	1	158650498	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	73498	158650498	90600123	4	3111											
ZNF496	84838	broad.mit.edu	37	chr1	247464286	247464286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccgagcactcgtgcggCttctcctgctccctgcggct	4	9	10	18	4	1	0	0	0	1	0	4	1	2	0	3	2	4	4	3	2	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:247464286C>T	ENST00000294753.4	-	9	1763	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.K469K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	433					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCGTGCGGCTTCTCCTGCT	0.617																																						uc009xgv.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1405-1407)aaG>aaA		Homo sapiens zinc finger protein 496 (ZNF496), mRNA.							62	64	63					1																	247464286		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464286C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1299G>A	1.37:g.247464286C>T						ZNF496_uc001ico.3_Silent_p.K433K	p.K469K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		7	1444	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		433					Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1407G>A	CCDS1631.1																																																																																				0.617	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		T	247464286	C	T	247464286	2	4	49	1	0	0	0	0	0	0	0	1	17942	796	28	3		3	ZNF496	1	247464286	Silent	SNP	C	TCGA-06-0238-01A-02D-1492-08	88813788	247464286	1786335	5	3112											
OR2T34	127068	broad.mit.edu	37	chr1	248737752	248737752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagaacatctggatccCacagcctgacggggaaatgg	12	6	14	9	1	1	2	0	1	1	1	2	5	2	5	2	5	2	0	2	5	3	0			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:248737752C>A	ENST00000328782.2	-	1	328	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTGGATCCCACAGCCTGAC	0.562																																						uc001iep.1																			0		p.G103G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(307-309)Ggg>Tgg		Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.							92	83	86					1																	248737752		2154	4270	6424	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737752C>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.307G>T	1.37:g.248737752C>A	ENSP00000330904:p.Gly103Trp						p.G103W	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	307	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		103					B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.307G>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.749275	0.30955	.	.	ENSG00000183310	ENST00000328782	T	0.00397	7.57	2.35	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73217	2.22	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51568	-0.8689	9	0.87932	D	0	.	5.5055	0.16852	0.0:0.7089:0.0:0.2911	.	103	Q8NGX1	O2T34_HUMAN	W	103	ENSP00000330904:G103W	ENSP00000330904:G103W	G	-	1	0	OR2T34	246804375	0.000000	0.05858	0.501000	0.27601	0.158000	0.22134	-0.379000	0.07437	0.207000	0.20607	0.395000	0.25975	GGG		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		A	248737752	C	A	248737752	3	1	49	1	0	0	0	0	1	0	0	0	11025	594	21	5	653	5	OR2T34	1	248737752	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	1273466	248737752	512869	6	3113											
TEKT4	150483	broad.mit.edu	37	chr2	95537569	95537569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccaggcgctggcgcagcGcacgcagcaagactccacgc	9	2	13	17	5	0	1	0	0	0	1	1	2	1	1	2	2	2	5	2	2	1	0	rs544727913	byFrequency	TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:95537569G>A	ENST00000295201.4	+	1	382	c.245G>A	c.(244-246)cGc>cAc	p.R82H	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.R82H	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	82					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGGCGCAGCGCACGCAGCAA	0.692													.|||	2	0.000399361	0.0015	0	5008	,	,		16556	0		0	False		,,,				2504	0					uc002stw.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(244-246)cGc>cAc		Homo sapiens tektin 4 (TEKT4), mRNA.							16	17	17					2																	95537569		2192	4274	6466	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537569G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.245G>A	2.37:g.95537569G>A	ENSP00000295201:p.Arg82His					LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	p.R82H	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			0	338	+			82						Missense_Mutation	SNP	ENST00000295201.4	37	c.245G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.021373	0.35701	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02812	4.15;4.15	1.74	1.74	0.24563	.	0.121716	0.56097	D	0.000027	T	0.04182	0.0116	M	0.80508	2.5	0.54753	D	0.999989	B	0.32203	0.36	B	0.28784	0.094	T	0.36768	-0.9734	10	0.14656	T	0.56	-10.6904	9.0634	0.36449	0.0:0.0:1.0:0.0	.	82	Q8WW24	TEKT4_HUMAN	H	82	ENSP00000295201:R82H;ENSP00000407596:R82H	ENSP00000295201:R82H	R	+	2	0	TEKT4	94901296	0.314000	0.24563	0.748000	0.31131	0.482000	0.33219	1.919000	0.40015	0.952000	0.37798	0.558000	0.71614	CGC		0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95537569	G	A	95537569	3	1	49	1	0	0	0	0	1	0	0	0	15752	1087	38	1	247	1	TEKT4	2	95537569	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		95537569	147661804	7	3114											
IWS1	55677	broad.mit.edu	37	chr2	128238721	128238721	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcatctgtttatccagtcGactgatacccttcttggagg	7	15	8	11	1	3	1	1	1	3	0	6	3	4	2	2	2	1	1	2	2	2	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:128238721G>A	ENST00000295321.4	-	14	2618	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*	AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000454503.2_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	787	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTATCCAGTCGACTGATACCC	0.388																																						uc002ton.2																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(2359-2361)Cga>Tga		Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.							138	129	132					2																	128238721		2203	4300	6503	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128238721G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2359C>T	2.37:g.128238721G>A	ENSP00000295321:p.Arg787*						p.R787*	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	13	2662	-	Colorectal(110;0.1)		787					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.2359C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	41	9.160133	0.99085	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	.	.	.	5.35	5.35	0.76521	.	0.065275	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1169	19.4441	0.94840	0.0:0.0:1.0:0.0	.	.	.	.	X	787;740	.	ENSP00000295321:R787X	R	-	1	2	IWS1	127955191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.475000	0.97721	2.671000	0.90904	0.650000	0.86243	CGA		0.388	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		A	128238721	G	A	128238721	4	1	49	1	0	0	0	0	0	1	0	0	7931	1066	37	2	104	2	IWS1	2	128238721	Nonsense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	32701152	128238721	114960652	8	3115											
PCDH7	5099	broad.mit.edu	37	chr4	30725870	30725870	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggacaagaaaaacaaaaaAtctaagcagcctctctacag	21	5	6	9	0	2	1	0	0	2	1	3	2	2	2	1	1	4	1	1	1	9	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr4:30725870A>G	ENST00000361762.2	+	1	3834	c.2826A>G	c.(2824-2826)aaA>aaG	p.K942K	PCDH7_ENST00000543491.1_Silent_p.K942K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	942					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAACAAAAAATCTAAGCAGC	0.413																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2824-2826)aaA>aaG		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							84	85	85					4																	30725870		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725870A>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2826A>G	4.37:g.30725870A>G						PCDH7_uc011bxx.2_Silent_p.K942K|PCDH7_uc021xnd.1_Silent_p.K942K|PCDH7_uc021xnc.1_Silent_p.K942K	p.K942K	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	3834	+			942					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2826A>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	2.068	-0.413848	0.04799	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.16	2.74	0.32292	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46884	-0.9159	4	.	.	.	.	7.3515	0.26693	0.6917:0.0:0.3083:0.0	.	.	.	.	V	632	.	.	I	+	1	0	PCDH7	30334968	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.298000	0.33412	0.444000	0.26612	-0.256000	0.11100	ATC		0.413	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		G	30725870	A	G	30725870	2	3	49	1	0	0	0	0	0	0	0	1	11516	98	4	4		4	PCDH7	4	30725870	Silent	SNP	A	TCGA-06-0238-01A-02D-1492-08		30725870	160428406	9	3116											
PTCD2	79810	broad.mit.edu	37	chr5	71627105	71627105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaccatgcagagaacaaaaAtttcactttgggggagtata	15	10	10	6	0	1	1	1	0	0	1	1	3	1	2	1	2	3	3	1	2	6	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:71627105A>G	ENST00000380639.5	+	4	387	c.371A>G	c.(370-372)aAt>aGt	p.N124S	PTCD2_ENST00000543322.1_Missense_Mutation_p.N124S|PTCD2_ENST00000503868.1_Intron|PTCD2_ENST00000536805.1_Intron	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	124					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGAACAAAAATTTCACTTTG	0.438																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(370-372)aAt>aGt		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							179	183	182					5																	71627105		2203	4300	6503	SO:0001583	missense	79810							g.chr5:71627105A>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.371A>G	5.37:g.71627105A>G	ENSP00000370013:p.Asn124Ser					PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_Intron|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	p.N124S	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	3	381	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	124					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.371A>G	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	A	4.725	0.134883	0.09032	.	.	ENSG00000049883	ENST00000380639;ENST00000543322	T;T	0.55413	1.06;0.52	5.3	1.54	0.23209	.	0.280700	0.38959	N	0.001510	T	0.41236	0.1150	M	0.72118	2.19	0.80722	D	1	B	0.31413	0.322	B	0.27170	0.077	T	0.16012	-1.0417	10	0.10111	T	0.7	.	5.9388	0.19181	0.7096:0.1398:0.1506:0.0	.	124	Q8WV60	PTCD2_HUMAN	S	124	ENSP00000370013:N124S;ENSP00000438810:N124S	ENSP00000308948:N124S	N	+	2	0	PTCD2	71662861	0.983000	0.35010	0.148000	0.22405	0.429000	0.31625	2.651000	0.46674	0.119000	0.18210	0.455000	0.32223	AAT		0.438	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		G	71627105	A	G	71627105	3	3	49	1	0	0	0	0	1	0	0	0	12728	101	4	4	385	4	PTCD2	5	71627105	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		71627105	109288155	10	3117											
SV2C	22987	broad.mit.edu	37	chr5	75428120	75428120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacccagtgctgagacagAcctctgcatcccaaattcag	11	9	8	13	0	2	2	1	1	1	2	3	3	3	2	3	0	3	3	3	0	2	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:75428120A>G	ENST00000502798.2	+	2	987	c.545A>G	c.(544-546)gAc>gGc	p.D182G	SV2C_ENST00000322285.7_Missense_Mutation_p.D182G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	182					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGAGACAGACCTCTGCATC	0.502																																						uc003kei.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(544-546)gAc>gGc		Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.							139	131	133					5																	75428120		2062	4212	6274	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428120A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.545A>G	5.37:g.75428120A>G	ENSP00000423541:p.Asp182Gly						p.D182G	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	1	679	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	182					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.545A>G	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664189	0.88251	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.44482	0.92;0.92	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.83603	2.65	0.80722	D	1	D	0.59767	0.986	P	0.61874	0.895	T	0.71787	-0.4487	10	0.87932	D	0	-32.9473	15.8725	0.79132	1.0:0.0:0.0:0.0	.	182	Q496J9	SV2C_HUMAN	G	182	ENSP00000423541:D182G;ENSP00000316983:D182G	ENSP00000316983:D182G	D	+	2	0	SV2C	75463876	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.339000	0.96797	2.163000	0.67991	0.533000	0.62120	GAC		0.502	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			G	75428120	A	G	75428120	3	3	49	1	0	0	0	0	1	0	0	0	15416	275	10	4	547	4	SV2C	5	75428120	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	3801015	75428120	105487140	11	3118											
UQCRQ	27089	broad.mit.edu	37	chr5	132202700	132202701	+	Frame_Shift_Ins	INS	-	-	G																															caatgttctgcgccgcattcINSgggagtctttctttcgcgtg																										TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:132202700_132202701insG	ENST00000378670.3	+	2	268_269	c.127_128insG	c.(127-129)cggfs	p.R43fs	GDF9_ENST00000378673.2_5'Flank|UQCRQ_ENST00000378667.1_Frame_Shift_Ins_p.R43fs|UQCRQ_ENST00000378665.1_Frame_Shift_Ins_p.R43fs|GDF9_ENST00000296875.2_5'Flank|GDF9_ENST00000464378.1_5'Flank|UQCRQ_ENST00000496429.1_Intron	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	43					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCCGCATTCGGGAGTCTTTC	0.634																																						uc003kya.1																			0				lung(3)	3						c.(127-129)cggfs		Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa (UQCRQ), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001589	frameshift_variant	27089				respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr5:132202700_132202701insG	BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	29594	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VII", "complex III subunit 8"	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.130dupG	5.37:g.132202703_132202703dupG	ENSP00000367939:p.Arg43fs					GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	p.R43fs	NM_014402	NP_055217	O14949	QCR8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	201_202	+		all_cancers(142;0.105)|Breast(839;0.198)	43					Q5FVE2|Q9BV88|Q9T2V7	Frame_Shift_Ins	INS	ENST00000378670.3	37	c.127_128insG	CCDS34237.1																																																																																				0.634	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133040.1	NM_014402		G	132202701	-	G	132202700	7	5	49	1	0	1	1	0	0	0	0	0	17021	875	31	0	129	0	UQCRQ	5	132202700	Frame_Shift_Ins	INS	-	TCGA-06-0238-01A-02D-1492-08	56774580	132202700	48712560	12	3119											
PCDHA1	56147	broad.mit.edu	37	chr5	140167621	140167621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagtgagctggtgccGcgattggtgggtgcgggtca	5	9	19	8	3	2	1	2	1	0	0	2	2	2	1	1	4	3	2	1	4	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140167621G>A	ENST00000504120.2	+	1	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.P582P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1744-1746)ccG>ccA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							100	94	96					5																	140167621		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167621G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1746G>A	5.37:g.140167621G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.P582P	p.P582P	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1746	+			595					O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1746G>A	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167621	G	A	140167621	2	1	49	1	0	0	0	0	0	0	0	1	11519	1074	38	1		1	PCDHA1	5	140167621	Silent	SNP	G	TCGA-06-0238-01A-02D-1492-08	7964921	140167621	40747639	13	3120											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720885	140720885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggacacgctcatcagccagGagagctgtgagaaaaaggat	14	5	13	9	2	2	2	2	1	0	2	2	6	2	4	1	3	2	2	1	3	2	0			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140720885G>A	ENST00000394576.2	+	1	2347	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAGCCAGGAGAGCTGTGA	0.488																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2347-2349)Gag>Aag		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							87	94	91					5																	140720885		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720885G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2347G>A	5.37:g.140720885G>A	ENSP00000378077:p.Glu783Lys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.E783K|PCDHGC5_uc011dap.2_5'Flank	p.E783K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2532	+			793					Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2347G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	15.39	2.818254	0.50633	.	.	ENSG00000081853	ENST00000394576	T	0.47869	0.83	4.86	3.95	0.45737	.	0.210877	0.23250	U	0.050246	T	0.58366	0.2117	M	0.89287	3.02	0.21020	N	0.999801	B;B	0.27068	0.167;0.083	B;B	0.34452	0.183;0.022	T	0.54510	-0.8283	10	0.28530	T	0.3	.	16.2915	0.82755	0.0:0.1439:0.8561:0.0	.	783;783	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	783	ENSP00000378077:E783K	ENSP00000378077:E783K	E	+	1	0	PCDHGA2	140701069	0.996000	0.38824	1.000000	0.80357	0.890000	0.51754	0.996000	0.29719	2.536000	0.85505	0.491000	0.48974	GAG		0.488	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140720885	G	A	140720885	3	1	49	1	0	0	0	0	1	0	0	0	11554	1175	41	3	2349	3	PCDHGA2	5	140720885	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	553264	140720885	40194375	14	3121											
ODZ2	57451	broad.mit.edu	37	chr5	167627098	167627098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgggacaagacagatgCgtatggccaaagggtgtatg	12	8	14	7	1	1	2	0	0	1	2	1	3	1	3	1	3	1	2	1	3	4	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:167627098C>G	ENST00000518659.1	+	17	3431	c.3392C>G	c.(3391-3393)gCg>gGg	p.A1131G	TENM2_ENST00000520394.1_Missense_Mutation_p.A899G|TENM2_ENST00000519204.1_Missense_Mutation_p.A1010G|TENM2_ENST00000545108.1_Missense_Mutation_p.A1131G|TENM2_ENST00000403607.2_Missense_Mutation_p.A955G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1131					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AAGACAGATGCGTATGGCCAA	0.478																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(3364-3366)gCg>gGg		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							145	151	149					5																	167627098		1987	4164	6151	SO:0001583	missense	57451							g.chr5:167627098C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3392C>G	5.37:g.167627098C>G	ENSP00000429430:p.Ala1131Gly					ODZ2_uc003lzr.4_Missense_Mutation_p.A899G|ODZ2_uc003lzt.4_Missense_Mutation_p.A495G|ODZ2_uc010jje.3_Missense_Mutation_p.A393G	p.A1122G	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	16	3365	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3365C>G		.	.	.	.	.	.	.	.	.	.	C	22.6	4.317251	0.81469	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90324	-2.18;-2.17;-2.28;-2.63;-2.65	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.993	D	0.93457	0.6807	10	0.41790	T	0.15	.	18.7579	0.91839	0.0:1.0:0.0:0.0	.	1131;1131;899	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	G	1131;1131;1010;899;955	ENSP00000429430:A1131G;ENSP00000438635:A1131G;ENSP00000428964:A1010G;ENSP00000427874:A899G;ENSP00000384905:A955G	ENSP00000384905:A955G	A	+	2	0	ODZ2	167559676	1.000000	0.71417	0.792000	0.32020	0.876000	0.50452	7.818000	0.86416	2.419000	0.82065	0.561000	0.74099	GCG		0.478	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167627098	C	G	167627098	3	3	49	1	0	0	0	0	1	0	0	0	10835	768	27	5	3431	5	ODZ2	5	167627098	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	26906213	167627098	13288162	15	3122											
DAXX	1616	broad.mit.edu	37	chr6	33287338	33287338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgcttcctggaagaggAaatgtccgtctccacagagg	10	10	12	9	1	1	3	0	1	1	2	4	5	3	5	3	3	1	1	3	3	2	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:33287338A>G	ENST00000374542.5	-	6	1963	c.1759T>C	c.(1759-1761)Tcc>Ccc	p.S587P	DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S512P|DAXX_ENST00000266000.6_Missense_Mutation_p.S587P	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	587	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGGAAGAGGAAATGTCCGTC	0.527			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.3				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1759-1761)Tcc>Ccc		Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.							80	83	82					6																	33287338		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287338A>G	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1759T>C	6.37:g.33287338A>G	ENSP00000363668:p.Ser587Pro					ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.S587P|DAXX_uc021ywo.1_Missense_Mutation_p.S587P|DAXX_uc011dre.2_Missense_Mutation_p.S599P|DAXX_uc003oed.3_Missense_Mutation_p.S587P|DAXX_uc011drd.2_Missense_Mutation_p.S512P	p.S587P	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN			5	1963	-			587			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1759T>C	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266523	0.23136	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.69	0.816	0.18768	.	0.646986	0.15698	N	0.249042	T	0.10723	0.0262	L	0.36672	1.1	0.29067	N	0.883517	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.15292	-1.0442	9	0.48119	T	0.1	-11.4897	0.8992	0.01270	0.4848:0.2053:0.1124:0.1976	.	599;587	B4E1C1;Q9UER7	.;DAXX_HUMAN	P	587;587;512	.	ENSP00000266000:S587P	S	-	1	0	DAXX	33395316	0.990000	0.36364	0.820000	0.32676	0.032000	0.12392	1.236000	0.32683	0.284000	0.22305	0.448000	0.29417	TCC		0.527	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			G	33287338	A	G	33287338	3	3	49	1	0	0	0	0	1	0	0	0	4243	246	9	4	475	4	DAXX	6	33287338	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		33287338	137827729	16	3123											
UBE2CBP	90025	broad.mit.edu	37	chr6	83728822	83728822	+	Frame_Shift_Del	DEL	C	C	-																															tttggaatttctcaaagattCaatcaccaaactgtctgaat																										TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:83728822delC	ENST00000369747.3	-	8	1002	c.880delG	c.(880-882)gaafs	p.E294fs		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	294					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CTCAAAGATTCAATCACCAAA	0.353																																						uc003pjp.2																			0											c.(880-882)gaafs		Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.							53	57	55					6																	83728822		2203	4300	6503	SO:0001589	frameshift_variant	90025					cytoplasm	ligase activity	g.chr6:83728822delC	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.880delG	6.37:g.83728822delC	ENSP00000358762:p.Glu294fs					UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Frame_Shift_Del_p.E84fs	p.E294fs	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN			7	988	-			294					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Frame_Shift_Del	DEL	ENST00000369747.3	37	c.880delG	CCDS34491.1																																																																																				0.353	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		-	83728822	C	-	83728822	7	5	49	1	0	1	0	1	0	0	0	0	16844	835	29	0	301	0	UBE2CBP	6	83728822	Frame_Shift_Del	DEL	C	TCGA-06-0238-01A-02D-1492-08	50441484	83728822	87386245	17	3124											
TFPI2	7980	broad.mit.edu	37	chr7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaccttttgcacatgcacGtttgcaatcctccctgctaa	9	13	5	14	1	0	0	0	0	0	0	2	0	2	0	3	0	5	5	3	0	3	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:93516588G>A	ENST00000222543.5	-	4	928	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	206	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323																																						uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(616-618)Cgt>Tgt		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							102	90	94					7																	93516588		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516588G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.616C>T	7.37:g.93516588G>A	ENSP00000222543:p.Arg206Cys					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	p.R206C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	691	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		206			BPTI/Kunitz inhibitor 3.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.616C>T	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528041	0.44969	.	.	ENSG00000105825	ENST00000222543	T	0.59083	0.29	5.47	-0.276	0.12902	Proteinase inhibitor I2, Kunitz metazoa (6);	1.098040	0.06910	N	0.807456	T	0.73575	0.3604	M	0.69185	2.1	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.63597	0.916;0.877;0.877	T	0.68465	-0.5401	10	0.59425	D	0.04	.	16.4475	0.83942	0.0:0.0:0.2316:0.7684	.	138;195;206	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	C	206	ENSP00000222543:R206C	ENSP00000222543:R206C	R	-	1	0	TFPI2	93354524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	0.028000	0.15324	0.655000	0.94253	CGT		0.323	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		A	93516588	G	A	93516588	3	1	49	1	0	0	0	0	1	0	0	0	15806	1145	40	1	99	1	TFPI2	7	93516588	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		93516588	65622075	18	3125											
ASZ1	136991	broad.mit.edu	37	chr7	117024817	117024817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcaatctcacttggcAtctttccatctttggtttgt	5	21	6	9	0	3	0	1	0	3	0	5	0	4	0	1	2	1	3	1	2	1	6			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:117024817A>G	ENST00000284629.2	-	6	712	c.650T>C	c.(649-651)aTg>aCg	p.M217T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTCACTTGGCATCTTTCCATC	0.353																																						uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(649-651)aTg>aCg		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							168	151	156					7																	117024817		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024817A>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.650T>C	7.37:g.117024817A>G	ENSP00000284629:p.Met217Thr					ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	p.M217T	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		5	713	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		217						Missense_Mutation	SNP	ENST00000284629.2	37	c.650T>C	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	0.078	-1.188873	0.01607	.	.	ENSG00000154438	ENST00000284629	T	0.61742	0.08	5.83	3.96	0.45880	Ankyrin repeat-containing domain (3);	0.286793	0.40908	N	0.000984	T	0.18676	0.0448	N	0.00263	-1.745	0.28289	N	0.923655	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29150	-1.0021	10	0.02654	T	1	-22.0915	12.9271	0.58266	0.0926:0.0:0.9074:0.0	.	217;217	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	217	ENSP00000284629:M217T	ENSP00000284629:M217T	M	-	2	0	ASZ1	116812053	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	3.681000	0.54648	0.741000	0.32674	-0.250000	0.11733	ATG		0.353	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		G	117024817	A	G	117024817	3	3	49	1	0	0	0	0	1	0	0	0	1069	217	8	4	809	4	ASZ1	7	117024817	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	23508229	117024817	42113846	19	3126											
KEL	3792	broad.mit.edu	37	chr7	142658531	142658531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatagctgtcagcacccGcctggccactgcccatggcc	7	6	11	17	1	1	0	1	0	0	0	1	1	1	1	5	3	3	2	5	3	1	1	rs150577967		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:142658531G>A	ENST00000355265.2	-	3	613	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	47					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGCACCCGCCTGGCCACT	0.547																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(139-141)Cgg>Tgg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	32	31	31		139	-3.8	0	7	dbSNP_134	31	0,8598		0,0,4299	no	missense	KEL	NM_000420.2	101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	47/733	142658531	1,13003	2203	4299	6502	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658531G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.139C>T	7.37:g.142658531G>A	ENSP00000347409:p.Arg47Trp						p.R47W	NM_000420	NP_000411	P23276	KELL_HUMAN			2	349	-	Melanoma(164;0.059)		47					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.139C>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.32|11.32	1.605365|1.605365	0.28623|0.28623	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;T;D	.|0.85088	.|-1.65;0.82;-1.94	4.62|4.62	-3.84|-3.84	0.04256|0.04256	.|.	.|0.765630	.|0.11177	.|N	.|0.591376	T|T	0.61615|0.61615	0.2361|0.2361	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.06405	.|0.002	T|T	0.48210|0.48210	-0.9055|-0.9055	5|10	.|0.40728	.|T	.|0.16	-1.7628|-1.7628	0.5035|0.5035	0.00584|0.00584	0.2816:0.1325:0.1832:0.4027|0.2816:0.1325:0.1832:0.4027	.|.	.|47	.|P23276	.|KELL_HUMAN	V|W	57|47;47;28	.|ENSP00000347409:R47W;ENSP00000419889:R47W;ENSP00000420011:R28W	.|ENSP00000347409:R47W	A|R	-|-	2|1	0|2	KEL|KEL	142368653|142368653	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.032000|0.032000	0.12392|0.12392	-2.139000|-2.139000	0.01302|0.01302	-0.655000|-0.655000	0.05387|0.05387	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142658531	G	A	142658531	3	1	49	1	0	0	0	0	1	0	0	0	8142	1086	38	1	2127	1	KEL	7	142658531	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	25633714	142658531	16480132	20	3127											
MLL3	58508	broad.mit.edu	37	chr7	151927093	151927093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctccttggccaaaactgCcacaaactacacacatatcc	13	8	4	16	0	0	0	0	0	0	0	2	0	2	0	4	1	5	1	4	1	5	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:151927093C>A	ENST00000262189.6	-	18	3109	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G964V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	964					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCCAAAACTGCCACAAACTAC	0.348																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(2890-2892)gGc>gTc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							62	51	55					7																	151927093		2200	4278	6478	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927093C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2891G>T	7.37:g.151927093C>A	ENSP00000262189:p.Gly964Val					MLL3_uc003wkz.3_Missense_Mutation_p.G25V	p.G964V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	17	3110	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	964					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2891G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.211290|3.211290	0.58343|0.58343	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.89196|.	-2.48;-2.48|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.41712|.	U|.	0.000833|.	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.77305|0.77305	-0.2637|-0.2637	10|5	0.87932|.	D|.	0|.	.|.	17.9348|17.9348	0.89009|0.89009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	964;25|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	V|C	964|119	ENSP00000262189:G964V;ENSP00000347325:G964V|.	ENSP00000262189:G964V|.	G|W	-|-	2|3	0|0	MLL3|MLL3	151558026|151558026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.770000|7.770000	0.85390|0.85390	2.303000|2.303000	0.77524|0.77524	0.460000|0.460000	0.39030|0.39030	GGC|TGG		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151927093	C	A	151927093	3	1	49	1	0	0	0	0	1	0	0	0	9622	739	26	5	12012	5	MLL3	7	151927093	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	9268562	151927093	7211570	21	3128											
TLE4	7091	broad.mit.edu	37	chr9	82324566	82324566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccacaccatcacatgcGtgtgccagcaatacctccaa	12	8	6	15	1	1	1	1	1	0	0	3	1	3	1	5	0	4	1	5	0	3	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:82324566G>A	ENST00000376552.2	+	14	2310	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	TLE4_ENST00000376544.3_Missense_Mutation_p.R362H|TLE4_ENST00000376537.4_Missense_Mutation_p.R463H|TLE4_ENST00000376520.4_Missense_Mutation_p.R463H|TLE4_ENST00000376534.4_Missense_Mutation_p.R68H|TLE4_ENST00000265284.6_Missense_Mutation_p.R406H	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	431					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCACATGCGTGTGCCAGCA	0.438																																						uc004ald.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1366-1368)cGt>cAt		Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.							102	104	103					9																	82324566		1950	4152	6102	SO:0001583	missense	7091							g.chr9:82324566G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1292G>A	9.37:g.82324566G>A	ENSP00000365735:p.Arg431His					TLE4_uc004alc.3_Missense_Mutation_p.R431H|TLE4_uc010mpr.3_Missense_Mutation_p.R310H|TLE4_uc004ale.3_Missense_Mutation_p.R68H|TLE4_uc011lsq.2_Missense_Mutation_p.R399H|TLE4_uc010mps.3_Missense_Mutation_p.R355H|TLE4_uc004alf.3_Missense_Mutation_p.R370H	p.R456H	NM_007005	NP_008936	O60756	BCE1_HUMAN			14	2216	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1367G>A	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.950719|5.950719	0.97139|0.97139	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284;ENST00000467142|ENST00000417836	T;T;T;T;T;T;T|.	0.63096|.	0.63;0.77;0.82;0.82;0.53;0.71;-0.02|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85461|0.85461	0.5702|0.5702	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.984;0.996;0.991|.	D|D	0.86411|0.86411	0.1748|0.1748	10|5	0.62326|.	D|.	0.03|.	-17.2032|-17.2032	20.2963|20.2963	0.98556|0.98556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	406;362;463;431|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.	.;.;.;TLE4_HUMAN|.	H|M	431;362;463;463;68;406;159|196	ENSP00000365735:R431H;ENSP00000365727:R362H;ENSP00000365703:R463H;ENSP00000365720:R463H;ENSP00000365717:R68H;ENSP00000265284:R406H;ENSP00000418409:R159H|.	ENSP00000265284:R406H|.	R|V	+|+	2|1	0|0	TLE4|TLE4	81514386|81514386	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	9.813000|9.813000	0.99286|0.99286	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.438	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		A	82324566	G	A	82324566	3	1	49	1	0	0	0	0	1	0	0	0	15938	1145	40	1	1346	1	TLE4	9	82324566	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		82324566	58888865	22	3129											
FLJ46321	389763	broad.mit.edu	37	chr9	84605747	84605747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgataccaaccactttcGtcgactgttatgcccagacc	10	11	6	14	2	1	2	1	1	0	1	3	3	1	2	4	0	3	1	4	0	3	3	rs267602287		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:84605747G>A	ENST00000344803.2	+	4	409	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	121					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AACCACTTTCGTCGACTGTTA	0.537																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(361-363)cGt>cAt		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							101	92	95					9																	84605747		1974	4153	6127	SO:0001583	missense	389763					integral to membrane		g.chr9:84605747G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.362G>A	9.37:g.84605747G>A	ENSP00000341988:p.Arg121His						p.R121H	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	409	+			121						Missense_Mutation	SNP	ENST00000344803.2	37	c.362G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308513	0.40895	.	.	ENSG00000214929	ENST00000344803	T	0.11495	2.77	2.89	-1.54	0.08584	.	0.558816	0.15199	N	0.275139	T	0.03220	0.0094	N	0.05012	-0.13	0.09310	N	1	P	0.51653	0.947	B	0.37480	0.251	T	0.41034	-0.9531	10	0.40728	T	0.16	-6.8593	2.8567	0.05574	0.3792:0.0:0.4206:0.2002	.	121	Q6ZQQ2	F75D1_HUMAN	H	121	ENSP00000341988:R121H	ENSP00000341988:R121H	R	+	2	0	FAM75D1	83795567	0.612000	0.27000	0.000000	0.03702	0.001000	0.01503	1.613000	0.36900	-0.315000	0.08703	-0.311000	0.09066	CGT		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84605747	G	A	84605747	3	1	49	1	0	0	0	0	1	0	0	0	5932	1145	40	1	376	1	FLJ46321	9	84605747	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	2281181	84605747	56607684	23	3130											
ZNF618	114991	broad.mit.edu	37	chr9	116779034	116779034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtactacactccctacCaggagcatgtggccttacac	12	8	7	14	0	0	0	0	0	0	0	1	1	1	1	3	2	5	2	3	2	5	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:116779034C>A	ENST00000374126.5	+	10	913	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	ZNF618_ENST00000288466.7_Missense_Mutation_p.Q260K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACTCCCTACCAGGAGCATGT	0.572																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(814-816)Cag>Aag		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							78	77	77					9																	116779034		1944	4146	6090	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116779034C>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.814C>A	9.37:g.116779034C>A	ENSP00000363241:p.Gln272Lys					ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.3_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.2_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.2_Missense_Mutation_p.Q240K	p.Q272K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			9	913	+			272					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.814C>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.626316	0.87560	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T;T	0.26810	1.71;1.71;2.78;2.19	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.29908	0.895	0.36345	D	0.859749	D;P;D;B;D	0.67145	0.969;0.865;0.991;0.342;0.996	D;P;D;B;D	0.74348	0.93;0.824;0.983;0.399;0.979	T	0.29458	-1.0011	10	0.33940	T	0.23	-20.8988	17.1697	0.86826	0.0:1.0:0.0:0.0	.	260;240;272;260;240	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	K	272;260;248;260	ENSP00000363241:Q272K;ENSP00000288466:Q260K;ENSP00000395400:Q248K;ENSP00000363239:Q260K	ENSP00000288466:Q260K	Q	+	1	0	ZNF618	115818855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.105000	0.77031	2.652000	0.90054	0.655000	0.94253	CAG		0.572	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116779034	C	A	116779034	3	1	49	1	0	0	0	0	1	0	0	0	18039	595	21	5	816	5	ZNF618	9	116779034	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	32173287	116779034	24434397	24	3131											
OR5P2	120065	broad.mit.edu	37	chr11	7818165	7818165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcagccagaaggaCgcattcgactgttgcaaaga	12	6	13	10	2	0	2	0	0	0	2	1	4	0	3	2	3	2	4	2	3	2	2	rs569926953	byFrequency	TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:7818165C>T	ENST00000329434.2	-	1	355	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V109I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGAAGGACGCATTCGACT	0.483																																						uc001mfp.1																			1	Substitution - Missense(1)	p.V109I(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(325-327)Gtc>Atc		Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.							96	111	106					11																	7818165		2105	4292	6397	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818165C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.325G>A	11.37:g.7818165C>T	ENSP00000331823:p.Val109Ile						p.V109I	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	325	-			109					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.325G>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	6.601	0.479294	0.12581	.	.	ENSG00000183303	ENST00000329434	T	0.01059	5.39	5.5	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.172021	0.42172	N	0.000756	T	0.00724	0.0024	N	0.11000	0.08	0.18873	N	0.999981	B	0.02656	0.0	B	0.04013	0.001	T	0.49214	-0.8963	10	0.49607	T	0.09	-40.3172	3.5462	0.07829	0.6539:0.1394:0.0739:0.1327	.	109	Q8WZ92	OR5P2_HUMAN	I	109	ENSP00000331823:V109I	ENSP00000331823:V109I	V	-	1	0	OR5P2	7774741	0.000000	0.05858	0.991000	0.47740	0.012000	0.07955	-0.165000	0.09968	0.161000	0.19458	-1.921000	0.00515	GTC		0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		T	7818165	C	T	7818165	3	4	49	1	0	0	0	0	1	0	0	0	11178	536	19	1	647	1	OR5P2	11	7818165	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08		7818165	127188351	25	3132											
TMEM41B	440026	broad.mit.edu	37	chr11	9305021	9305021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggctggcagaatagAaagaacagccaagatcatca	18	5	11	7	0	2	5	2	0	0	5	2	6	2	5	1	2	2	2	1	2	6	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:9305021A>G	ENST00000528080.1	-	7	1164	c.826T>C	c.(826-828)Tct>Cct	p.S276P		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	276					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GGCAGAATAGAAAGAACAGCC	0.358																																						uc001mhm.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(826-828)Tct>Cct		Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.							68	67	67					11																	9305021		2200	4296	6496	SO:0001583	missense	440026					integral to membrane		g.chr11:9305021A>G	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.826T>C	11.37:g.9305021A>G	ENSP00000433126:p.Ser276Pro					TMEM41B_uc001mhn.2_Missense_Mutation_p.S276P	p.S276P	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	6	1153	-			276					D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	c.826T>C	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721209	0.89205	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	T;T	0.52754	0.65;0.65	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.71036	2.16	0.80722	D	1	P	0.42973	0.796	P	0.52514	0.701	T	0.55854	-0.8075	10	0.18710	T	0.47	-13.2539	16.087	0.81065	1.0:0.0:0.0:0.0	.	276	Q5BJD5	TM41B_HUMAN	P	276	ENSP00000299596:S276P;ENSP00000433126:S276P	ENSP00000299596:S276P	S	-	1	0	TMEM41B	9261597	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.207000	0.95064	2.202000	0.70862	0.533000	0.62120	TCT		0.358	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			G	9305021	A	G	9305021	3	3	49	1	0	0	0	0	1	0	0	0	16162	246	9	4	53	4	TMEM41B	11	9305021	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	1486856	9305021	125701495	26	3133											
CASP1	834	broad.mit.edu	37	chr11	104900443	104900443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtttgtccttcaaacttgGgcagttcttggtattcaaca	8	15	9	9	1	3	0	2	0	1	0	4	0	4	0	1	3	2	4	1	3	3	7			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:104900443G>A	ENST00000533400.1	-	6	846	c.811C>T	c.(811-813)Cca>Tca	p.P271S	CASP1_ENST00000528974.1_Missense_Mutation_p.P232S|CASP1_ENST00000594519.1_Missense_Mutation_p.P178S|CASP1_ENST00000525825.1_Missense_Mutation_p.P250S|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.P250S|CASP1_ENST00000527979.1_Missense_Mutation_p.P234S|CASP1_ENST00000526568.1_Missense_Mutation_p.P178S|CASP1_ENST00000436863.3_Missense_Mutation_p.P271S|CASP1_ENST00000598974.1_Missense_Mutation_p.P271S|CASP1_ENST00000593315.1_Missense_Mutation_p.P250S|CASP1_ENST00000446369.1_Missense_Mutation_p.P178S|CASP1_ENST00000534497.1_Missense_Mutation_p.P178S	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	271					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTCAAACTTGGGCAGTTCTTG	0.448																																					NSCLC(41;1246 1743 4934)	uc001pim.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(811-813)Cca>Tca		Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	Minocycline(DB01017)|Penicillamine(DB00859)						117	101	107					11																	104900443		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900443G>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.811C>T	11.37:g.104900443G>A	ENSP00000433138:p.Pro271Ser					CASP1_uc001pig.3_Missense_Mutation_p.P178S|CASP1_uc021qpq.1_Missense_Mutation_p.P250S|CASP1_uc021qpr.1_Missense_Mutation_p.P178S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P271S|CASP1_uc021qpt.1_Missense_Mutation_p.P178S|CASP1_uc010rve.2_Missense_Mutation_p.P271S|CASP1_uc010rvf.2_Missense_Mutation_p.P178S|CASP1_uc010rvg.2_Missense_Mutation_p.P250S|CASP1_uc010rvh.2_Missense_Mutation_p.P178S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P250S|CASP1_uc021qpu.1_Missense_Mutation_p.P178S|CASP1_uc021qpv.1_Missense_Mutation_p.P250S|CASP1_uc021qpw.1_Missense_Mutation_p.P178S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P271S|CASP1_uc009yxj.3_Missense_Mutation_p.P116S|CASP1_uc010rvk.2_Missense_Mutation_p.P232S	p.P271S	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	5	811	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	271					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.811C>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374135	0.42105	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.49139	2.1;2.1;2.1;2.1;2.1;0.79;2.1;2.1;0.79;2.1	4.69	4.69	0.59074	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.114304	0.64402	D	0.000013	T	0.67683	0.2919	M	0.79926	2.475	0.40082	D	0.97614	P;D;D;B;B;B;B	0.71674	0.655;0.992;0.998;0.347;0.399;0.347;0.184	B;P;D;B;B;B;B	0.64410	0.213;0.617;0.925;0.135;0.213;0.135;0.07	T	0.70506	-0.4853	10	0.44086	T	0.13	.	15.5592	0.76229	0.0:0.0:1.0:0.0	.	232;178;271;250;271;234;178	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	S	120;178;234;271;271;178;250;250;178;232	ENSP00000435536:P120S;ENSP00000434250:P178S;ENSP00000432340:P234S;ENSP00000433138:P271S;ENSP00000410076:P271S;ENSP00000403260:P178S;ENSP00000376844:P250S;ENSP00000434779:P250S;ENSP00000436875:P178S;ENSP00000434259:P232S	ENSP00000376844:P250S	P	-	1	0	CASP1	104405653	0.294000	0.24380	0.187000	0.23214	0.134000	0.20937	0.872000	0.28037	2.605000	0.88082	0.552000	0.68991	CCA		0.448	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		A	104900443	G	A	104900443	3	1	49	1	0	0	0	0	1	0	0	0	2668	1232	43	3	419	3	CASP1	11	104900443	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	95595422	104900443	30106073	27	3134											
MARS	4141	broad.mit.edu	37	chr12	57910320	57910320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaacagttggctgtagctGaggggaaaccccctgaagcc	12	6	13	10	0	0	3	0	2	0	1	0	4	0	4	3	3	4	4	3	3	4	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57910320G>A	ENST00000262027.5	+	21	2793	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	887	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGCTGTAGCTGAGGGGAAACC	0.433																																						uc001sog.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(2659-2661)Gag>Aag		Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	L-Methionine(DB00134)						57	55	56					12																	57910320		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57910320G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2659G>A	12.37:g.57910320G>A	ENSP00000262027:p.Glu887Lys					MARS_uc001sof.1_Non-coding_Transcript|MARS_uc001soh.1_3'UTR	p.E887K	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		20	2813	+			887			WHEP-TRS.		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.2659G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075601	0.36662	.	.	ENSG00000166986	ENST00000262027;ENST00000552914	T;T	0.30448	1.53;1.53	5.47	4.52	0.55395	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.62088	1.915	0.80722	D	1	P	0.43578	0.811	B	0.40602	0.334	T	0.06006	-1.0851	10	0.10902	T	0.67	-23.1996	15.005	0.71504	0.0:0.1432:0.8568:0.0	.	887	P56192	SYMC_HUMAN	K	887;206	ENSP00000262027:E887K;ENSP00000449787:E206K	ENSP00000262027:E887K	E	+	1	0	MARS	56196587	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.746000	0.94184	0.561000	0.74099	GAG		0.433	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		A	57910320	G	A	57910320	3	1	49	1	0	0	0	0	1	0	0	0	9316	1291	45	3	2741	3	MARS	12	57910320	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		57910320	75941575	28	3135											
DDIT3	1649	broad.mit.edu	37	chr12	57911096	57911096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtacccccattttcatCtgaagacaggacctcttgca	11	11	7	12	0	3	2	1	1	2	1	3	3	3	3	3	2	2	2	3	2	3	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57911096C>A	ENST00000346473.3	-	3	273	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	DDIT3_ENST00000551116.1_Missense_Mutation_p.D55Y|DDIT3_ENST00000547303.1_Missense_Mutation_p.D32Y|DDIT3_ENST00000552740.1_Missense_Mutation_p.D55Y|MIR616_ENST00000385293.1_RNA	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	32					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D32Y(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CCATTTTCATCTGAAGACAGG	0.493			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	uc009zpt.3				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	1	Substitution - Missense(1)	p.D32Y(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(163-165)Gat>Tat		Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.							67	60	62					12																	57911096		2203	4300	6503	SO:0001583	missense	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57911096C>A	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.94G>T	12.37:g.57911096C>A	ENSP00000340671:p.Asp32Tyr					MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.D32Y|DDIT3_uc021qzj.1_Missense_Mutation_p.D32Y|DDIT3_uc021qzk.1_Missense_Mutation_p.D55Y|DDIT3_uc021qzl.1_Missense_Mutation_p.D55Y|DDIT3_uc009zps.3_Missense_Mutation_p.D55Y	p.D55Y	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN			2	431	-			32					F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	c.163G>T	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584256	0.86748	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.63096	0.05;-0.02;0.05;-0.02	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.34521	1.04	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.74348	0.983;0.945	T	0.73845	-0.3854	10	0.87932	D	0	-18.5436	17.6367	0.88124	0.0:1.0:0.0:0.0	.	55;32	F8VS99;P35638	.;DDIT3_HUMAN	Y	32;55;32;55;55	ENSP00000447188:D32Y;ENSP00000448665:D55Y;ENSP00000340671:D32Y;ENSP00000447803:D55Y	ENSP00000340671:D32Y	D	-	1	0	DDIT3	56197363	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.821000	0.75272	2.776000	0.95493	0.655000	0.94253	GAT		0.493	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		A	57911096	C	A	57911096	3	1	49	1	0	0	0	0	1	0	0	0	4330	913	32	5	423	5	DDIT3	12	57911096	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	776	57911096	75940799	29	3136											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994645	57994645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgctaggcatccacGacatcattcggggctctgaa	8	10	10	13	2	3	1	1	1	2	0	5	2	4	1	2	3	1	3	2	3	2	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994645G>T	ENST00000354947.5	+	8	881	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.D241Y|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.D289Y|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.D271Y			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	289	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552																																						uc001sou.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(865-867)Gac>Tac		Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.							204	203	204					12																	57994645		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994645G>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.865G>T	12.37:g.57994645G>T	ENSP00000347032:p.Asp289Tyr					PIP4K2C_uc001sot.3_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.2_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.2_Missense_Mutation_p.D241Y	p.D289Y	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN			7	996	+	Melanoma(17;0.122)		289			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.865G>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432472	0.62844	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.47	4.47	0.54385	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.159885	0.52532	D	0.000065	T	0.48874	0.1524	L	0.48935	1.535	0.80722	D	1	P;B;D	0.71674	0.596;0.239;0.998	B;B;D	0.74348	0.434;0.34;0.983	T	0.51084	-0.8750	10	0.87932	D	0	-20.3027	16.433	0.83860	0.0:0.0:1.0:0.0	.	241;271;289	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	Y	241;289;271;289	ENSP00000412035:D241Y;ENSP00000439878:D289Y;ENSP00000447390:D271Y;ENSP00000347032:D289Y	ENSP00000347032:D289Y	D	+	1	0	PIP4K2C	56280912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.089000	0.94137	2.480000	0.83734	0.555000	0.69702	GAC		0.552	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		T	57994645	G	T	57994645	3	4	49	1	0	0	0	0	1	0	0	0	11938	1058	37	5	895	5	PIP4K2C	12	57994645	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	83549	57994645	75857250	30	3137											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994848	57994848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcattgatgtctatgccatCcggagtgctgaaggtgagag	9	12	13	7	1	2	3	1	3	1	1	3	5	3	4	2	2	2	1	2	2	2	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994848C>G	ENST00000354947.5	+	8	1084	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.I308M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.I356M|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.I338M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	356	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTATGCCATCCGGAGTGCTG	0.562																																						uc001sou.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1066-1068)atC>atG		Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.							67	69	68					12																	57994848		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994848C>G	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1068C>G	12.37:g.57994848C>G	ENSP00000347032:p.Ile356Met					PIP4K2C_uc001sot.3_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.2_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.2_Missense_Mutation_p.I308M	p.I356M	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN			7	1199	+	Melanoma(17;0.122)		356			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.1068C>G	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107122	0.37145	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.38	4.38	0.52667	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.164162	0.52532	D	0.000074	T	0.39009	0.1062	L	0.52905	1.665	0.51767	D	0.999939	P;B;P	0.36974	0.571;0.447;0.576	B;B;P	0.44673	0.285;0.285;0.457	T	0.26292	-1.0107	10	0.45353	T	0.12	-15.2513	16.2256	0.82288	0.0:1.0:0.0:0.0	.	308;338;356	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	M	308;356;338;356	ENSP00000412035:I308M;ENSP00000439878:I356M;ENSP00000447390:I338M;ENSP00000347032:I356M	ENSP00000347032:I356M	I	+	3	3	PIP4K2C	56281115	0.684000	0.27642	1.000000	0.80357	0.959000	0.62525	0.783000	0.26802	2.433000	0.82419	0.484000	0.47621	ATC		0.562	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		G	57994848	C	G	57994848	3	3	49	1	0	0	0	0	1	0	0	0	11938	845	30	5	1098	5	PIP4K2C	12	57994848	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	203	57994848	75857047	31	3138											
TSPAN31	6302	broad.mit.edu	37	chr12	58140433	58140433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcgggatgaactggaaaGaagttttgattgttgtggct	10	13	14	4	1	0	3	0	2	0	1	1	6	0	5	0	3	1	3	0	3	3	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:58140433G>A	ENST00000257910.3	+	4	648	c.374G>A	c.(373-375)aGa>aAa	p.R125K	TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Missense_Mutation_p.R42K|CDK4_ENST00000551888.1_5'Flank	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	125					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAACTGGAAAGAAGTTTTGAT	0.448																																						uc001spt.3																			0				endometrium(1)|kidney(1)|lung(5)	7						c.(373-375)aGa>aAa		Homo sapiens tetraspanin 31 (TSPAN31), mRNA.							138	129	132					12																	58140433		2203	4300	6503	SO:0001583	missense	6302				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58140433G>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.374G>A	12.37:g.58140433G>A	ENSP00000257910:p.Arg125Lys					TSPAN31_uc009zqb.3_Intron|TSPAN31_uc010ssa.2_Missense_Mutation_p.R47K	p.R125K	NM_005981	NP_005972	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	528	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		125					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.374G>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019115	0.19355	.	.	ENSG00000135452	ENST00000257910;ENST00000552816;ENST00000547472;ENST00000548167	T;D;T;D	0.86562	-1.14;-2.14;-1.14;-2.14	4.91	2.94	0.34122	.	0.186140	0.52532	D	0.000080	T	0.63224	0.2493	N	0.04245	-0.25	0.33316	D	0.566652	B	0.02656	0.0	B	0.06405	0.002	T	0.59506	-0.7442	10	0.02654	T	1	-6.153	3.71	0.08416	0.0873:0.3076:0.446:0.159	.	125	Q12999	TSN31_HUMAN	K	125;47;42;47	ENSP00000257910:R125K;ENSP00000449312:R47K;ENSP00000449199:R42K;ENSP00000449131:R47K	ENSP00000257910:R125K	R	+	2	0	TSPAN31	56426700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.330000	0.33781	1.420000	0.47138	-0.312000	0.09012	AGA		0.448	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			A	58140433	G	A	58140433	3	1	49	1	0	0	0	0	1	0	0	0	16643	942	33	3	388	3	TSPAN31	12	58140433	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	145585	58140433	75711462	32	3139											
TPTE2	93492	broad.mit.edu	37	chr13	20066995	20066995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttataactcaccttttActgataggtgacaccagggc	11	13	8	9	0	1	2	1	2	0	0	1	2	1	2	2	2	2	1	2	2	5	7			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr13:20066995A>T	ENST00000400230.2	-	3	158	c.114T>A	c.(112-114)agT>agA	p.S38R	TPTE2_ENST00000400103.2_Missense_Mutation_p.S38R|TPTE2_ENST00000255310.6_Missense_Mutation_p.S38R|TPTE2_ENST00000390680.2_Missense_Mutation_p.S38R|TPTE2_ENST00000382978.1_Missense_Mutation_p.S38R|TPTE2_ENST00000382975.4_Missense_Mutation_p.S38R|TPTE2_ENST00000457266.2_Missense_Mutation_p.S38R|TPTE2_ENST00000382977.4_Missense_Mutation_p.S38R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	38					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTCACCTTTTACTGATAGGTG	0.388																																						uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(112-114)agT>agA		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							105	93	97					13																	20066995		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20066995A>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.114T>A	13.37:g.20066995A>T	ENSP00000383089:p.Ser38Arg					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.S38R|TPTE2_uc001ume.3_Missense_Mutation_p.S38R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.S38R	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	3	325	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	38					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.114T>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	A	7.677	0.688156	0.14973	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.97041	-3.76;-4.22;-3.53;-3.6;-3.6;-3.53;-3.76;-4.22	1.03	1.03	0.20045	.	0.663214	0.12986	U	0.422896	D	0.96367	0.8815	L	0.44542	1.39	0.09310	N	1	D;D;B	0.64830	0.972;0.994;0.22	P;D;B	0.71870	0.766;0.975;0.08	D	0.89562	0.3807	9	.	.	.	-5.951	4.2725	0.10794	1.0:0.0:0.0:0.0	.	38;38;38	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	R	38	ENSP00000372438:S38R;ENSP00000382974:S38R;ENSP00000383089:S38R;ENSP00000255310:S38R;ENSP00000375098:S38R;ENSP00000372437:S38R;ENSP00000372435:S38R;ENSP00000442218:S38R	.	S	-	3	2	TPTE2	18964995	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.560000	0.23500	0.706000	0.31912	0.379000	0.24179	AGT		0.388	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		T	20066995	A	T	20066995	3	4	49	1	0	0	0	0	1	0	0	0	16428	388	14	5	1526	5	TPTE2	13	20066995	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		20066995	95102883	33	3140											
PCNX	22990	broad.mit.edu	37	chr14	71495452	71495452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagcactttacagttttAtctgtagcattgttgcagta	9	17	8	7	0	1	0	0	0	1	0	1	0	1	0	0	0	5	8	0	0	4	9			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:71495452A>C	ENST00000304743.2	+	16	3948	c.3502A>C	c.(3502-3504)Atc>Ctc	p.I1168L	PCNX_ENST00000238570.5_Missense_Mutation_p.I1168L|PCNX_ENST00000439984.3_Missense_Mutation_p.I1057L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1168						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTACAGTTTTATCTGTAGCAT	0.313																																						uc001xmo.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3502-3504)Atc>Ctc		Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.							118	109	112					14																	71495452		2203	4299	6502	SO:0001583	missense	22990					integral to membrane		g.chr14:71495452A>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3502A>C	14.37:g.71495452A>C	ENSP00000304192:p.Ile1168Leu					PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	p.I1168L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	15	3948	+			1168					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3502A>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.032|0.032	-1.325350|-1.325350	0.01309|0.01309	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.08193|.	3.57;3.58;3.12|.	5.29|5.29	-0.0362|-0.0362	0.13889|0.13889	.|.	0.343346|.	0.31507|.	N|.	0.007534|.	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.04387|0.04387	-0.21|-0.21	0.28840|0.28840	N|N	0.896671|0.896671	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.0|.	T|T	0.31223|0.31223	-0.9951|-0.9951	10|5	0.06365|.	T|.	0.9|.	.|.	5.8026|5.8026	0.18422|0.18422	0.5768:0.2722:0.151:0.0|0.5768:0.2722:0.151:0.0	.|.	1168;1057;1168|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|F	1168;1168;1057|226	ENSP00000304192:I1168L;ENSP00000238570:I1168L;ENSP00000396617:I1057L|.	ENSP00000238570:I1168L|.	I|L	+|+	1|3	0|2	PCNX|PCNX	70565205|70565205	0.309000|0.309000	0.24518|0.24518	0.561000|0.561000	0.28357|0.28357	0.049000|0.049000	0.14656|0.14656	0.979000|0.979000	0.29500|0.29500	-0.162000|-0.162000	0.10964|0.10964	-0.313000|-0.313000	0.08912|0.08912	ATC|TTA		0.313	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		C	71495452	A	C	71495452	3	2	49	1	0	0	0	0	1	0	0	0	11591	449	16	5	3564	5	PCNX	14	71495452	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		71495452	35854088	34	3141											
TJP1	7082	broad.mit.edu	37	chr15	30003151	30003151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtggcctggatgggttcaTagcgtttctcgccaaatgat	8	12	13	8	2	2	1	1	1	1	0	3	3	2	2	2	3	1	2	2	3	2	3	rs200549140		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:30003151T>C	ENST00000346128.6	-	24	4730	c.4256A>G	c.(4255-4257)tAt>tGt	p.Y1419C	TJP1_ENST00000545208.2_Missense_Mutation_p.Y1339C|TJP1_ENST00000356107.6_Missense_Mutation_p.Y1419C|TJP1_ENST00000400011.2_Missense_Mutation_p.Y1343C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1419					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATGGGTTCATAGCGTTTCTC	0.512																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4255-4257)tAt>tGt		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							171	183	179					15																	30003151		2033	4197	6230	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003151T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4256A>G	15.37:g.30003151T>C	ENSP00000281537:p.Tyr1419Cys					TJP1_uc010azl.3_Missense_Mutation_p.Y1407C|TJP1_uc001zcq.3_Missense_Mutation_p.Y1343C|TJP1_uc001zcs.3_Missense_Mutation_p.Y1339C	p.Y1419C	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	23	4731	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1419					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4256A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435010	0.43224	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T	0.56444	0.46;0.46;0.98	5.62	3.24	0.37175	.	0.184388	0.49305	N	0.000154	T	0.66557	0.2801	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.65212	-0.6223	10	0.87932	D	0	.	8.357	0.32335	0.0:0.069:0.1327:0.7983	.	1412;1339;1419;1343	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	C	1419;1343;1419;1339;1339	ENSP00000281537:Y1419C;ENSP00000382890:Y1343C;ENSP00000441202:Y1419C	ENSP00000281537:Y1419C	Y	-	2	0	TJP1	27790443	1.000000	0.71417	0.920000	0.36463	0.194000	0.23727	2.949000	0.49074	0.374000	0.24650	0.533000	0.62120	TAT		0.512	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		C	30003151	T	C	30003151	3	2	49	1	0	0	0	0	1	0	0	0	15926	1406	49	4	1010	4	TJP1	15	30003151	Missense_Mutation	SNP	T	TCGA-06-0238-01A-02D-1492-08		30003151	72528241	35	3142											
ARNT2	9915	broad.mit.edu	37	chr15	80883952	80883952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaagggcggccctcGgaagtctggtcgcagtggca	7	7	15	12	3	1	0	0	0	1	0	4	1	2	1	2	5	0	3	2	5	2	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:80883952G>A	ENST00000303329.4	+	18	2127	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	ARNT2_ENST00000533983.1_Silent_p.S643S|ARNT2_ENST00000527771.1_Silent_p.S643S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	654					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCGGCCCTCGGAAGTCTGGT	0.567																																						uc002bfr.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1960-1962)tcG>tcA		Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.							102	103	103					15																	80883952		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80883952G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1962G>A	15.37:g.80883952G>A						ARNT2_uc010unm.2_Silent_p.S643S|ARNT2_uc002bfs.3_Silent_p.S643S	p.S654S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		17	2128	+			654					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1962G>A	CCDS32307.1																																																																																				0.567	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80883952	G	A	80883952	2	1	49	1	0	0	0	0	0	0	0	1	966	1103	39	2		2	ARNT2	15	80883952	Silent	SNP	G	TCGA-06-0238-01A-02D-1492-08	50880801	80883952	21647440	36	3143											
RSL1D1	26156	broad.mit.edu	37	chr16	11931690	11931690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttgggccattttttggggGtgtgggaagcttttctcaca	5	17	13	6	0	1	0	1	0	1	0	2	1	1	1	1	4	1	1	1	4	1	7			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:11931690G>T	ENST00000571133.1	-	9	1499	c.1427C>A	c.(1426-1428)aCc>aAc	p.T476N	RSL1D1_ENST00000542106.1_Missense_Mutation_p.T256N	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	476					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTTGGGGGTGTGGGAAGC	0.468																																						uc002dbp.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(1426-1428)aCc>aAc		Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.							171	185	180					16																	11931690		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11931690G>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1427C>A	16.37:g.11931690G>T	ENSP00000460871:p.Thr476Asn					RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	p.T476N	NM_015659	NP_056474	O76021	RL1D1_HUMAN			8	1500	-			476					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.1427C>A	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449307	0.43531	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.47177	0.85	4.8	4.8	0.61643	.	0.457752	0.24727	N	0.036089	T	0.52058	0.1711	L	0.43923	1.385	0.36438	D	0.865301	D	0.58268	0.982	P	0.52793	0.709	T	0.62520	-0.6837	10	0.72032	D	0.01	-6.3852	14.0871	0.64964	0.0:0.0:1.0:0.0	.	476	O76021	RL1D1_HUMAN	N	475;476;256	ENSP00000442089:T256N	ENSP00000347897:T475N	T	-	2	0	RSL1D1	11839191	0.995000	0.38212	0.186000	0.23195	0.008000	0.06430	2.606000	0.46291	2.586000	0.87340	0.563000	0.77884	ACC		0.468	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		T	11931690	G	T	11931690	3	4	49	1	0	0	0	0	1	0	0	0	13700	1261	44	5	49	5	RSL1D1	16	11931690	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		11931690	78423063	37	3144											
SMG1	23049	broad.mit.edu	37	chr16	18875133	18875133	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatttataacctcaggggaAgagtcagtcggtttggacag	12	11	12	6	1	2	1	2	0	0	1	3	3	2	3	1	4	1	1	1	4	4	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:18875133A>T	ENST00000446231.2	-	25	3946	c.3534T>A	c.(3532-3534)tcT>tcA	p.S1178S	SMG1_ENST00000389467.3_Silent_p.S1178S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1178	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCAGGGGAAGAGTCAGTCG	0.388																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(3532-3534)tcT>tcA		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.							25	26	26					16																	18875133		911	2062	2973	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18875133A>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3534T>A	16.37:g.18875133A>T						SMG1_uc010bwb.3_Silent_p.S1038S	p.S1178S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			24	3897	-			1178			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.3534T>A	CCDS45430.1																																																																																				0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18875133	A	T	18875133	2	4	49	1	0	0	0	0	0	0	0	1	14795	59	3	5		5	SMG1	16	18875133	Silent	SNP	A	TCGA-06-0238-01A-02D-1492-08	6943443	18875133	71479620	38	3145											
TP53	7157	broad.mit.edu	37	chr17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-																															cggttcatgccgcccatgcaGgaactgttacacatgtagtt																								rs397516437|rs28934573		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr17:7577558_7577566delGGAACTGTT	ENST00000269305.4	-	7	904_912	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del|TP53_ENST00000420246.2_In_Frame_Del_p.NSS239del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCCATGCAGGAACTGTTACACATGTAG	0.574		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		372	Substitution - Missense(261)|Deletion - Frameshift(37)|Insertion - Frameshift(26)|Deletion - In frame(20)|Whole gene deletion(8)|Substitution - coding silent(6)|Insertion - In frame(5)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.S241F(163)|p.N239D(66)|p.C238Y(57)|p.N239S(50)|p.S241C(50)|p.C238F(36)|p.S240G(28)|p.N239fs*25(27)|p.C238S(19)|p.S241fs*6(18)|p.S241A(17)|p.S240R(17)|p.S241Y(16)|p.C242fs*5(15)|p.N239K(14)|p.C238R(14)|p.S241T(14)|p.N239Y(12)|p.S240I(12)|p.S241del(10)|p.N239fs*1(8)|p.N239T(8)|p.0?(8)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.S240C(6)|p.S241S(6)|p.S241P(6)|p.?(5)|p.N239_S240insX(4)|p.S148F(4)|p.N239fs*8(4)|p.S240S(4)|p.S240T(4)|p.S240fs*7(4)|p.C238*(4)|p.N239_S240delNS(4)|p.S241fs*22(4)|p.N146S(3)|p.N239fs*26(2)|p.Y236_M243delYMCNSSCM(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.S240>CSC(2)|p.C238_M246delCNSSCMGGM(2)|p.S240P(2)|p.S241_C242insX(2)|p.S240fs*23(2)|p.C238del(2)|p.C238G(2)|p.C238fs*21(2)|p.C238W(2)|p.N239I(2)|p.N239N(2)|p.S241fs*7(2)|p.S240fs*26(2)|p.N239*(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.S241fs*23(2)|p.S241_G245delSCMGG(2)|p.N239_S240insN(2)|p.C238_N239insX(2)|p.N239_C242del(2)|p.S148T(1)|p.C238fs*2(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.V225fs*23(1)|p.S148C(1)|p.N239fs*?(1)|p.C238fs*9(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239fs*>48(1)|p.H233fs*6(1)|p.N146fs*>10(1)|p.N146fs*1(1)|p.M237_C238insX(1)	large_intestine(39)|ovary(36)|haematopoietic_and_lymphoid_tissue(35)|urinary_tract(34)|breast(32)|lung(30)|endometrium(25)|oesophagus(23)|central_nervous_system(21)|biliary_tract(17)|upper_aerodigestive_tract(16)|stomach(12)|skin(10)|soft_tissue(7)|liver(7)|bone(7)|kidney(6)|pancreas(5)|thyroid(3)|prostate(3)|cervix(2)|eye(2)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD984149|CM920673|CM942121	TP53	D|M	rs28934573	c.(715-723)aacagttccdel	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577558_7577566delGGAACTGTT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715_723delAACAGTTCC	17.37:g.7577558_7577566delGGAACTGTT	ENSP00000269305:p.Asn239_Ser241del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.3_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.NSS239del	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	909_917	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.715_723delAACAGTTCC	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577566	GGAACTGTT	-	7577558	7	5	49	1	0	1	0	1	0	0	0	0	16378	987	35	0	567	0	TP53	17	7577558	In_Frame_Del	DEL	GGAACTGTT	TCGA-06-0238-01A-02D-1492-08		7577558	73617652	39	3146											
ZNF317	57693	broad.mit.edu	37	chr19	9271619	9271619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccgaaaccagtccatccTtaagactcacatgaactctc	12	10	4	15	1	2	2	1	1	1	1	6	3	5	2	4	0	2	0	4	0	3	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:9271619T>A	ENST00000247956.6	+	7	1603	c.1298T>A	c.(1297-1299)cTt>cAt	p.L433H	ZNF317_ENST00000360385.3_Missense_Mutation_p.L401H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAGTCCATCCTTAAGACTCAC	0.537																																						uc002mku.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1297-1299)cTt>cAt		Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.							77	76	76					19																	9271619		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271619T>A	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1298T>A	19.37:g.9271619T>A	ENSP00000247956:p.Leu433His					ZNF317_uc002mkv.3_Missense_Mutation_p.L292H|ZNF317_uc002mkw.3_Missense_Mutation_p.L401H|ZNF317_uc002mkx.3_Missense_Mutation_p.L348H|ZNF317_uc002mky.3_Missense_Mutation_p.L316H	p.L433H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			6	1603	+			433					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1298T>A	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325164	0.60634	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.54071	0.59;0.59	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003105	T	0.72228	0.3434	M	0.87097	2.86	0.37065	D	0.898271	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79257	-0.1878	10	0.87932	D	0	-18.9286	9.5634	0.39383	0.0:0.0:0.0:1.0	.	401;433	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	H	433;401	ENSP00000247956:L433H;ENSP00000353554:L401H	ENSP00000247956:L433H	L	+	2	0	ZNF317	9132619	0.991000	0.36638	0.620000	0.29132	0.946000	0.59487	4.685000	0.61693	1.592000	0.50018	0.402000	0.26972	CTT		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		A	9271619	T	A	9271619	3	1	49	1	0	0	0	0	1	0	0	0	17832	1609	56	5	1320	5	ZNF317	19	9271619	Missense_Mutation	SNP	T	TCGA-06-0238-01A-02D-1492-08		9271619	49857364	40	3147											
NOTCH3	4854	broad.mit.edu	37	chr19	15298114	15298114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgggtcaggggagcagtCgtccacgttgcgatcacaca	9	7	14	11	3	2	0	2	0	0	0	4	2	3	1	1	3	2	3	1	3	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:15298114C>T	ENST00000263388.2	-	11	1717	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	548	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGCAGTCGTCCACGTTG	0.657																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(1642-1644)Gac>Aac		Homo sapiens notch 3 (NOTCH3), mRNA.							80	62	68					19																	15298114		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298114C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1642G>A	19.37:g.15298114C>T	ENSP00000263388:p.Asp548Asn					NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	p.D548N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		10	1718	-			548			EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1642G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261309	0.23051	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95482	-3.72	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93585	0.7952	L	0.59967	1.855	0.46458	D	0.999053	P;P	0.47484	0.896;0.571	B;B	0.41917	0.37;0.05	D	0.92525	0.6028	9	0.23891	T	0.37	.	16.3643	0.83308	0.0:1.0:0.0:0.0	.	551;548	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	548;550	ENSP00000263388:D548N	ENSP00000263388:D548N	D	-	1	0	NOTCH3	15159114	0.982000	0.34865	0.996000	0.52242	0.156000	0.22039	2.479000	0.45197	2.215000	0.71742	0.655000	0.94253	GAC		0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15298114	C	T	15298114	3	4	49	1	0	0	0	0	1	0	0	0	10550	884	31	2	5415	2	NOTCH3	19	15298114	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	6026495	15298114	43830869	41	3148											
FCGBP	8857	broad.mit.edu	37	chr19	40419695	40419695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacagtggcccagactggCctggcagcaggcagcggtca	9	4	14	14	1	1	1	1	0	0	1	1	1	1	1	2	5	2	3	2	5	0	0			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:40419695C>T	ENST00000221347.6	-	6	3306	c.3299G>A	c.(3298-3300)gGc>gAc	p.G1100D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1100						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGACTGGCCTGGCAGCAG	0.647																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3298-3300)gGc>gAc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							70	69	69					19																	40419695		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40419695C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3299G>A	19.37:g.40419695C>T	ENSP00000221347:p.Gly1100Asp						p.G1100D	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		5	3307	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1100					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3299G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792563	0.70452	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	5.33	4.29	0.51040	Uncharacterised domain, cysteine-rich (2);	0.064498	0.64402	N	0.000010	D	0.82375	0.5023	L	0.55103	1.725	0.36398	D	0.862916	D	0.89917	1.0	D	0.97110	1.0	T	0.82028	-0.0660	10	0.21540	T	0.41	.	9.8398	0.40991	0.0:0.8366:0.0:0.1634	.	1100	Q9Y6R7	FCGBP_HUMAN	D	1100	ENSP00000221347:G1100D	ENSP00000221347:G1100D	G	-	2	0	FCGBP	45111535	0.132000	0.22450	0.819000	0.32651	0.969000	0.65631	3.816000	0.55658	1.475000	0.48197	0.561000	0.74099	GGC		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40419695	C	T	40419695	3	4	49	1	0	0	0	0	1	0	0	0	5778	739	26	3	13042	3	FCGBP	19	40419695	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	25121581	40419695	18709288	42	3149											
NLRP2	55655	broad.mit.edu	37	chr19	55494507	55494507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcaggagtccgacctcCgtctgttcctggacggagac	6	8	15	12	3	1	1	0	0	1	1	4	5	4	3	4	4	1	2	4	4	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:55494507C>T	ENST00000543010.1	+	6	1584	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C	NLRP2_ENST00000263437.6_Missense_Mutation_p.R478C|NLRP2_ENST00000538819.1_Missense_Mutation_p.R457C|NLRP2_ENST00000537859.1_Missense_Mutation_p.R459C|NLRP2_ENST00000448584.2_Missense_Mutation_p.R481C|NLRP2_ENST00000427260.2_Missense_Mutation_p.R458C|NLRP2_ENST00000339757.7_Missense_Mutation_p.R459C|NLRP2_ENST00000391721.4_Missense_Mutation_p.R457C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	481	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCCGACCTCCGTCTGTTCCT	0.632																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1441-1443)Cgt>Tgt		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.							38	38	38					19																	55494507		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494507C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1441C>T	19.37:g.55494507C>T	ENSP00000445135:p.Arg481Cys					NLRP2_uc010yfp.2_Missense_Mutation_p.R458C|NLRP2_uc002qij.3_Missense_Mutation_p.R481C|NLRP2_uc010esp.3_Missense_Mutation_p.R459C|NLRP2_uc010esn.3_Missense_Mutation_p.R457C|NLRP2_uc010eso.3_Missense_Mutation_p.R478C	p.R481C	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	5	1552	+			481			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1441C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	3.522	-0.097556	0.07010	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74315	-0.79;-0.73;-0.73;-0.79;-0.73;-0.83;-0.73;-0.79	1.75	-3.51	0.04696	.	1.827760	0.03383	N	0.200681	T	0.59004	0.2162	L	0.31664	0.95	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.002;0.003;0.002;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.002	T	0.36065	-0.9763	10	0.52906	T	0.07	.	2.8601	0.05584	0.2794:0.2555:0.0:0.4652	.	458;459;478;457;481	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	C	481;457;459;481;459;458;457;478	ENSP00000445135:R481C;ENSP00000375601:R457C;ENSP00000344074:R459C;ENSP00000409370:R481C;ENSP00000440601:R459C;ENSP00000402474:R458C;ENSP00000441133:R457C;ENSP00000263437:R478C	ENSP00000263437:R478C	R	+	1	0	NLRP2	60186319	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.040000	0.01416	-1.276000	0.02414	-0.994000	0.02522	CGT		0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55494507	C	T	55494507	3	4	49	1	0	0	0	0	1	0	0	0	10477	652	23	2	1459	2	NLRP2	19	55494507	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	15074812	55494507	3634476	43	3150											
GGT1	2678	broad.mit.edu	37	chr22	25023517	25023517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacacgccggatgacggggGcactgctcacctgtctgtcg	6	8	13	14	4	2	1	1	1	1	0	3	2	2	2	2	3	2	2	2	3	1	1	rs547395033	byFrequency	TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr22:25023517G>A	ENST00000400382.1	+	12	1894	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	GGT1_ENST00000404532.1_Missense_Mutation_p.G36D|GGT1_ENST00000403838.1_Missense_Mutation_p.G36D|GGT1_ENST00000406383.2_Missense_Mutation_p.G380D|GGT1_ENST00000400380.1_Missense_Mutation_p.G380D|GGT1_ENST00000248923.4_Missense_Mutation_p.G380D|GGT1_ENST00000401885.1_Missense_Mutation_p.G36D|GGT1_ENST00000404920.1_Missense_Mutation_p.G36D|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.G380D|GGT1_ENST00000404223.1_Missense_Mutation_p.G36D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	380					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATGACGGGGGCACTGCTCAC	0.632													g|||	4	0.000798722	0	0	5008	,	,		11492	0		0.004	False		,,,				2504	0					uc003aan.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1138-1140)gGc>gAc		Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	Glutathione(DB00143)						23	22	23					22																	25023517		2197	4283	6480	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023517G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1139G>A	22.37:g.25023517G>A	ENSP00000383232:p.Gly380Asp					GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.2_Missense_Mutation_p.G380D|GGT1_uc003aav.2_Missense_Mutation_p.G380D|GGT1_uc003aaw.2_Missense_Mutation_p.G380D|GGT1_uc003aax.2_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	p.G380D	NM_013430	NP_038347	P19440	GGT1_HUMAN			11	1626	+			380					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1139G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	16.33	3.093904	0.56075	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26	3.36	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.78637	2.42	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.11227	-1.0596	10	0.66056	D	0.02	-38.6232	14.2891	0.66265	0.0:0.0:1.0:0.0	.	380	P19440	GGT1_HUMAN	D	380;380;380;380;380;380;36;36;36;36;36	ENSP00000248923:G380D;ENSP00000393537:G380D;ENSP00000383232:G380D;ENSP00000383233:G380D;ENSP00000383231:G380D;ENSP00000385975:G380D;ENSP00000384381:G36D;ENSP00000385445:G36D;ENSP00000384820:G36D;ENSP00000385016:G36D;ENSP00000385001:G36D	ENSP00000248923:G380D	G	+	2	0	GGT1	23353517	1.000000	0.71417	0.878000	0.34440	0.110000	0.19582	9.095000	0.94175	1.886000	0.54624	0.298000	0.19748	GGC		0.632	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25023517	G	A	25023517	3	1	49	1	0	0	0	0	1	0	0	0	6361	1203	42	3	1169	3	GGT1	22	25023517	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		25023517	26281049	44	3151											
MAP3K15	389840	broad.mit.edu	37	chrX	19431486	19431486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccttaccatttctgtggGtgagacatgccataaagaaa	12	11	8	10	0	1	2	0	1	1	2	2	3	2	2	4	1	2	0	4	1	4	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chrX:19431486G>T	ENST00000338883.4	-	11	1686	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.P395T|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	563							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATTTCTGTGGGTGAGACATGC	0.398																																						uc022btq.1																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1687-1689)Ccc>Acc		Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.							261	233	243					X																	19431486		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19431486G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1687C>A	X.37:g.19431486G>T	ENSP00000345629:p.Pro563Thr					MAP3K15_uc004czj.2_5'UTR|MAP3K15_uc004czk.2_Missense_Mutation_p.T5N	p.P563T	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			10	1687	-	Hepatocellular(33;0.183)		563					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1687C>A		.	.	.	.	.	.	.	.	.	.	G	17.61	3.432515	0.62844	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.72505	-0.66;-0.64	4.92	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.83953	2.67	0.53005	D	0.999968	.	.	.	.	.	.	T	0.79408	-0.1816	8	0.54805	T	0.06	.	10.823	0.46617	0.1587:0.0:0.8413:0.0	.	.	.	.	T	563;395	ENSP00000345629:P563T;ENSP00000428356:P395T	ENSP00000345629:P563T	P	-	1	0	MAP3K15	19341407	1.000000	0.71417	0.918000	0.36340	0.968000	0.65278	6.317000	0.72862	0.443000	0.26582	0.415000	0.27848	CCC		0.398	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		T	19431486	G	T	19431486	3	4	49	1	0	0	0	0	1	0	0	0	9249	1261	44	5	2330	5	MAP3K15	23	19431486	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		19431486	135839074	45	3152											
CCDC37	348807	broad.mit.edu	37	chr3	126133023	126133023	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaataaggctctctccGtgagtatccaggacagacgc	11	7	12	11	3	1	2	0	1	1	1	4	4	3	4	2	3	1	2	2	3	3	2	rs150312379	byFrequency	TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr3:126133023G>A	ENST00000352312.1	+	4	324		c.e4+1		CCDC37_ENST00000505024.1_Splice_Site|CCDC37_ENST00000393425.1_Splice_Site|CCDC37_ENST00000510833.1_Missense_Mutation_p.V76M	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37											NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCTCTCTCCGTGAGTATCCA	0.557													G|||	2	0.000399361	0.0015	0	5008	,	,		19671	0		0	False		,,,				2504	0					uc010hsg.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.e3+1		Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	149	148	148			4.6	0.9	3	dbSNP_134	148	0,8600		0,0,4300	yes	splice-5	CCDC37	NM_182628.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154			126133023	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	348807							g.chr3:126133023G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.225+1G>A	3.37:g.126133023G>A						CCDC37_uc003eiu.1_Splice_Site_p.S75_splice	p.S75_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	3	284	+			75					D3DNA8|Q494V1|Q494V4|Q8N838	Splice_Site	SNP	ENST00000352312.1	37	c.225_splice	CCDS3037.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.09|10.09	1.256253|1.256253	0.22965|0.22965	4.54E-4|4.54E-4	0.0|0.0	ENSG00000163885|ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024|ENST00000510833	.|.	.|.	.|.	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68760	.|0.3036	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67106	.|-0.5754	.|4	.|.	.|.	.|.	.|.	13.6375|13.6375	0.62230|0.62230	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|76	.|.	.|.	.|V	+|+	.|1	.|0	CCDC37|CCDC37	127615713|127615713	0.995000|0.995000	0.38212|0.38212	0.920000|0.920000	0.36463|0.36463	0.007000|0.007000	0.05969|0.05969	2.972000|2.972000	0.49256|0.49256	2.502000|2.502000	0.84385|0.84385	0.585000|0.585000	0.79938|0.79938	.|GTG		0.557	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	Intron	A	126133023	G	A	126133023	5	1	50	1	0	0	0	0	0	0	1	0	2809	1159	40	1	236	1	CCDC37	3	126133023	Splice_Site	SNP	G	TCGA-06-0240-01A-03D-1491-08		126133023	71889407	1	3153											
PCDHA1	56147	broad.mit.edu	37	chr5	140167216	140167216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtggaggtggccgaCgtgaatgacaacgcgcctgc	7	7	16	11	5	0	2	0	2	0	0	1	4	1	3	3	3	2	0	3	3	2	0	rs369392034		TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr5:140167216C>T	ENST00000504120.2	+	1	1341	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	PCDHA1_ENST00000378133.3_Silent_p.D447D|PCDHA1_ENST00000394633.3_Silent_p.D447D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCCGACGTGAATGACA	0.667																																						uc003lhb.2																			0		p.I446M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1339-1341)gaC>gaT		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							77	81	80					5																	140167216		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167216C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1341C>T	5.37:g.140167216C>T						PCDHAC2_uc003lha.2_Silent_p.D447D|PCDHAC2_uc003lgz.3_Silent_p.D447D	p.D447D	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1341	+			461			Cadherin 4.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1341C>T	CCDS54913.1																																																																																				0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140167216	C	T	140167216	2	4	50	1	0	0	0	0	0	0	0	1	11519	535	19	1		1	PCDHA1	5	140167216	Silent	SNP	C	TCGA-06-0240-01A-03D-1491-08		140167216	40748044	2	3154											
PPARGC1B	133522	broad.mit.edu	37	chr5	149210432	149210432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagatctaaaagtcaaCggccttgtgttaaggtattt	11	13	9	8	1	3	1	2	0	1	1	3	1	3	1	2	2	1	2	2	2	5	5			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr5:149210432C>T	ENST00000309241.5	+	4	600	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R190W	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	190					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TAAAAGTCAACGGCCTTGTGT	0.562																																						uc003lrc.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(568-570)Cgg>Tgg		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.							92	93	93					5																	149210432		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149210432C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.568C>T	5.37:g.149210432C>T	ENSP00000312649:p.Arg190Trp					PPARGC1B_uc003lrb.2_Missense_Mutation_p.R190W|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R169W	p.R190W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	659	+			190					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.568C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797741	0.70567	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.13307	2.6;2.62	5.29	2.23	0.28157	.	0.373012	0.25625	N	0.029394	T	0.32734	0.0839	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.971;0.971;0.936;0.999	T	0.09185	-1.0686	10	0.72032	D	0.01	-9.4841	13.6285	0.62181	0.4044:0.5956:0.0:0.0	.	169;169;190;190	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	W	190	ENSP00000377855:R190W;ENSP00000312649:R190W	ENSP00000312649:R190W	R	+	1	2	PPARGC1B	149190625	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.608000	0.36847	0.665000	0.31066	0.561000	0.74099	CGG		0.562	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		T	149210432	C	T	149210432	3	4	50	1	0	0	0	0	1	0	0	0	12301	527	19	1	589	1	PPARGC1B	5	149210432	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08	9043216	149210432	31704828	3	3155											
TDRD6	221400	broad.mit.edu	37	chr6	46658843	46658843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaattagtttatataaCgcatattgatgacccttgga	14	14	8	5	1	0	4	0	3	0	1	0	5	0	5	1	1	1	2	1	1	7	8	rs369734344		TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr6:46658843C>T	ENST00000316081.6	+	1	2978	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	TDRD6_ENST00000544460.1_Missense_Mutation_p.T993M|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	993					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2977-2979)aCg>aTg		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	50	54	53		2978,2978	5.4	0.9	6		53	0,8598		0,0,4299	no	missense,missense	TDRD6	NM_001010870.2,NM_001168359.1	81,81	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	993/2097,993/2067	46658843	1,13003	2203	4299	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658843C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2978C>T	6.37:g.46658843C>T	ENSP00000346065:p.Thr993Met					TDRD6_uc010jze.3_Missense_Mutation_p.T993M	p.T993M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	3232	+			993					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2978C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527533	0.64860	2.27E-4	0.0	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11930	2.73;2.73	5.36	5.36	0.76844	Maternal tudor protein (1);	0.097072	0.64402	D	0.000001	T	0.41903	0.1179	M	0.91972	3.26	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54268	-0.8319	10	0.66056	D	0.02	0.0033	19.0785	0.93173	0.0:1.0:0.0:0.0	.	993;993	F5H5M3;O60522	.;TDRD6_HUMAN	M	993	ENSP00000443299:T993M;ENSP00000346065:T993M	ENSP00000346065:T993M	T	+	2	0	TDRD6	46766802	1.000000	0.71417	0.864000	0.33941	0.761000	0.43186	7.456000	0.80751	2.498000	0.84270	0.655000	0.94253	ACG		0.333	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46658843	C	T	46658843	3	4	50	1	0	0	0	0	1	0	0	0	15731	536	19	1	2980	1	TDRD6	6	46658843	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		46658843	124456224	4	3156											
RAMP3	10268	broad.mit.edu	37	chr7	45222997	45222997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggcgcagcaaacgcaccGacacgctgctgtgagggtcc	8	6	14	13	4	0	1	0	1	0	0	1	2	1	1	2	2	3	5	2	2	1	0			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr7:45222997G>A	ENST00000242249.4	+	3	471	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RAMP3_ENST00000481345.1_Missense_Mutation_p.D145N|RAMP3_ENST00000496212.1_Missense_Mutation_p.D145N	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	145					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.D145N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAAACGCACCGACACGCTGCT	0.627																																						uc003tnb.3																			1	Substitution - Missense(1)	p.D145N(2)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(433-435)Gac>Aac		Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	Pramlintide(DB01278)						97	89	92					7																	45222997		2203	4300	6503	SO:0001583	missense	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222997G>A	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.433G>A	7.37:g.45222997G>A	ENSP00000242249:p.Asp145Asn						p.D145N	NM_005856	NP_005847	O60896	RAMP3_HUMAN			2	494	+			145					Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	c.433G>A	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149725	0.78001	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.45668	0.89;0.89;0.89	4.37	3.46	0.39613	.	0.163209	0.52532	D	0.000077	T	0.62036	0.2395	M	0.78801	2.425	0.47994	D	0.999569	D	0.89917	1.0	D	0.69307	0.963	T	0.65429	-0.6170	10	0.72032	D	0.01	-25.0987	11.8561	0.52437	0.0:0.1786:0.8214:0.0	.	145	O60896	RAMP3_HUMAN	N	145	ENSP00000242249:D145N;ENSP00000419012:D145N;ENSP00000418460:D145N	ENSP00000242249:D145N	D	+	1	0	RAMP3	45189522	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	5.299000	0.65716	0.779000	0.33543	0.655000	0.94253	GAC		0.627	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		A	45222997	G	A	45222997	3	1	50	1	0	0	0	0	1	0	0	0	13023	1058	37	2	443	2	RAMP3	7	45222997	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08		45222997	113915666	5	3157											
TLR4	7099	broad.mit.edu	37	chr9	120466768	120466768	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatgatgtctgcctcgcgCctggctgggactctgatccc	5	10	13	13	2	2	2	0	2	2	0	4	4	3	4	3	3	1	1	3	3	0	0			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr9:120466768C>G	ENST00000355622.6	+	1	119	c.18C>G	c.(16-18)cgC>cgG	p.R6R	TLR4_ENST00000394487.4_5'UTR|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	6					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGCCTCGCGCCTGGCTGGGA	0.602																																						uc004bjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(16-18)cgC>cgG		Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.							66	63	64					9																	120466768		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120466768C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.18C>G	9.37:g.120466768C>G						TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR	p.R6R	NM_138554	NP_612564	O00206	TLR4_HUMAN			0	309	+			6					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.18C>G	CCDS6818.1																																																																																				0.602	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		G	120466768	C	G	120466768	2	3	50	1	0	0	0	0	0	0	0	1	15950	726	26	5		5	TLR4	9	120466768	Silent	SNP	C	TCGA-06-0240-01A-03D-1491-08		120466768	20746663	6	3158											
MS4A8B	83661	broad.mit.edu	37	chr11	60470906	60470906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctccatcatggcgaCggttctcgtaggggaatacc	7	9	12	13	4	2	0	1	0	1	0	5	2	3	1	3	5	1	3	3	5	3	3			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr11:60470906C>T	ENST00000300226.2	+	3	478	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	92						integral component of membrane (GO:0016021)											ATCATGGCGACGGTTCTCGTA	0.552																																						uc001npv.3																			0		p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(274-276)aCg>aTg		Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.							151	139	143					11																	60470906		2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60470906C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.275C>T	11.37:g.60470906C>T	ENSP00000300226:p.Thr92Met					MS4A8B_uc009yne.1_Missense_Mutation_p.T92M	p.T92M	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			2	478	+			92					Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.275C>T	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.36|11.36	1.615604|1.615604	0.28801|0.28801	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000525458|ENST00000300226;ENST00000529752	.|T;T	.|0.02301	.|4.35;4.35	3.62|3.62	2.6|2.6	0.31112|0.31112	.|.	.|0.472817	.|0.19530	.|N	.|0.112065	T|T	0.03739|0.03739	0.0106|0.0106	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.964;0.997	.|P;P	.|0.53102	.|0.557;0.718	T|T	0.45818|0.45818	-0.9235|-0.9235	5|10	.|0.31617	.|T	.|0.26	-14.2382|-14.2382	7.6502|7.6502	0.28344|0.28344	0.2522:0.7478:0.0:0.0|0.2522:0.7478:0.0:0.0	.|.	.|92;92	.|E9PQE1;Q9BY19	.|.;M4A8B_HUMAN	W|M	74|92	.|ENSP00000300226:T92M;ENSP00000436857:T92M	.|ENSP00000300226:T92M	R|T	+|+	1|2	2|0	MS4A8B|MS4A8B	60227482|60227482	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.004000|0.004000	0.04260|0.04260	0.804000|0.804000	0.27098|0.27098	1.745000|1.745000	0.51790|0.51790	0.491000|0.491000	0.48974|0.48974	CGG|ACG		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			T	60470906	C	T	60470906	3	4	50	1	0	0	0	0	1	0	0	0	9867	536	19	1	281	1	MS4A8B	11	60470906	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		60470906	74535610	7	3159											
RYR3	6263	broad.mit.edu	37	chr15	34105755	34105755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggcctgtttcaggAtggcccctctctacaacctg	6	11	11	13	0	2	0	1	0	1	0	3	1	2	1	4	4	2	1	4	4	2	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:34105755A>G	ENST00000389232.4	+	74	10547	c.10477A>G	c.(10477-10479)Atg>Gtg	p.M3493V	RYR3_ENST00000415757.3_Missense_Mutation_p.M3488V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3493	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGTTTCAGGATGGCCCCTCT	0.527																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10477-10479)Atg>Gtg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							124	121	122					15																	34105755		1939	4127	6066	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105755A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10477A>G	15.37:g.34105755A>G	ENSP00000373884:p.Met3493Val					RYR3_uc010bar.3_Missense_Mutation_p.M3488V	p.M3493V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	73	10547	+		all_lung(180;7.18e-09)	3493					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10477A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504171	0.64410	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97041	-4.22	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.75085	2.285	0.58432	D	0.999997	P;D	0.61080	0.917;0.989	D;D	0.74348	0.915;0.983	D	0.99066	1.0832	10	0.72032	D	0.01	.	15.0106	0.71547	1.0:0.0:0.0:0.0	.	3488;3493	Q15413-2;Q15413	.;RYR3_HUMAN	V	3493;3493;3488	ENSP00000373884:M3493V	ENSP00000354735:M3488V	M	+	1	0	RYR3	31893047	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.087000	0.94110	2.123000	0.65237	0.533000	0.62120	ATG		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			G	34105755	A	G	34105755	3	3	50	1	0	0	0	0	1	0	0	0	13770	333	12	4	10771	4	RYR3	15	34105755	Missense_Mutation	SNP	A	TCGA-06-0240-01A-03D-1491-08		34105755	68425637	8	3160											
THBS1	7057	broad.mit.edu	37	chr15	39874573	39874573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacctggtggatgctgtgCgggcagaaaagggtttcctc	9	9	15	8	1	0	2	0	0	0	2	2	3	1	3	2	4	2	3	2	4	3	1	rs571353083		TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:39874573C>T	ENST00000260356.5	+	3	412	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	83	Heparin-binding.|Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GGATGCTGTGCGGGCAGAAAA	0.617													C|||	1	0.000199681	0	0	5008	,	,		19259	0.001		0	False		,,,				2504	0					uc001zkh.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(247-249)Cgg>Tgg		Homo sapiens thrombospondin 1 (THBS1), mRNA.	Becaplermin(DB00102)						62	58	60					15																	39874573		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874573C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.247C>T	15.37:g.39874573C>T	ENSP00000260356:p.Arg83Trp						p.R83W	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	2	426	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	83			Heparin-binding.|TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.247C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162114	0.57368	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.02236	4.38;4.38	5.28	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.247598	0.21277	N	0.077205	T	0.03348	0.0097	L	0.54323	1.7	0.45097	D	0.998117	D	0.63880	0.993	B	0.40825	0.341	T	0.57688	-0.7768	10	0.40728	T	0.16	-16.0528	12.8047	0.57607	0.0:0.9219:0.0:0.0781	.	83	P07996	TSP1_HUMAN	W	83	ENSP00000260356:R83W;ENSP00000380720:R83W	ENSP00000260356:R83W	R	+	1	2	THBS1	37661865	1.000000	0.71417	0.995000	0.50966	0.610000	0.37248	3.021000	0.49651	1.453000	0.47775	0.563000	0.77884	CGG		0.617	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39874573	C	T	39874573	3	4	50	1	0	0	0	0	1	0	0	0	15850	759	27	1	253	1	THBS1	15	39874573	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08	5768818	39874573	62656819	9	3161											
PAQR5	54852	broad.mit.edu	37	chr15	69652448	69652448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaagctccccaggctgtTtagcatagaccagatacccc	10	8	8	15	0	0	3	0	1	0	2	1	3	1	3	6	1	3	4	6	1	4	4			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:69652448T>C	ENST00000340965.3	+	3	697	c.29T>C	c.(28-30)tTt>tCt	p.F10S	PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Missense_Mutation_p.F10S|PAQR5_ENST00000561153.1_Missense_Mutation_p.F10S	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	10					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCCAGGCTGTTTAGCATAGAC	0.542																																						uc002arz.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						c.(28-30)tTt>tCt		Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.							138	123	128					15																	69652448		2200	4298	6498	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69652448T>C		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.29T>C	15.37:g.69652448T>C	ENSP00000343877:p.Phe10Ser					PAQR5_uc002asa.2_Missense_Mutation_p.F10S	p.F10S	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			2	407	+			10					Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.29T>C	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	T	7.344	0.621561	0.14193	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.22743	1.94;1.94	5.02	3.89	0.44902	.	0.715119	0.14464	N	0.317987	T	0.24392	0.0591	M	0.65975	2.015	0.09310	N	1	B	0.26775	0.159	B	0.29353	0.101	T	0.22487	-1.0215	10	0.72032	D	0.01	-2.5843	8.02	0.30404	0.1806:0.0:0.0:0.8194	.	10	Q9NXK6	MPRG_HUMAN	S	10	ENSP00000378803:F10S;ENSP00000343877:F10S	ENSP00000343877:F10S	F	+	2	0	PAQR5	67439502	0.147000	0.22687	0.031000	0.17742	0.033000	0.12548	3.334000	0.52097	0.921000	0.36994	-0.516000	0.04426	TTT		0.542	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		C	69652448	T	C	69652448	3	2	50	1	0	0	0	0	1	0	0	0	11438	1841	64	4	31	4	PAQR5	15	69652448	Missense_Mutation	SNP	T	TCGA-06-0240-01A-03D-1491-08	29777875	69652448	32878944	10	3162											
CLEC3A	10143	broad.mit.edu	37	chr16	78064695	78064695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagtgatgaggcctgtcGcagcagcaagagatacatat	12	8	14	7	1	0	3	0	2	0	1	1	5	0	4	1	2	3	3	1	2	3	2	rs201495730		TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr16:78064695G>A	ENST00000575655.1	+	3	632	c.551G>A	c.(550-552)cGc>cAc	p.R184H	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.R193H|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	184	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAGGCCTGTCGCAGCAGCAAG	0.493													G|||	1	0.000199681	0	0	5008	,	,		19546	0.001		0	False		,,,				2504	0					uc002ffh.4																			0		p.C183R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(550-552)cGc>cAc		Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.							94	94	94					16																	78064695		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064695G>A	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.551G>A	16.37:g.78064695G>A	ENSP00000460682:p.Arg184His					CLEC3A_uc021tlr.1_Missense_Mutation_p.R132H	p.R184H	NM_005752	NP_005743	O75596	CLC3A_HUMAN			2	632	+			184			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.551G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.22	3.575240	0.65878	.	.	ENSG00000166509	ENST00000299642	.	.	.	6.07	5.13	0.70059	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.045357	0.85682	N	0.000000	T	0.59348	0.2187	L	0.52905	1.665	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.58393	-0.7644	9	0.62326	D	0.03	-9.969	15.0897	0.72183	0.0682:0.0:0.9318:0.0	.	184	O75596	CLC3A_HUMAN	H	184	.	ENSP00000299642:R184H	R	+	2	0	CLEC3A	76622196	1.000000	0.71417	0.968000	0.41197	0.717000	0.41224	5.489000	0.66875	1.586000	0.49944	0.655000	0.94253	CGC		0.493	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		A	78064695	G	A	78064695	3	1	50	1	0	0	0	0	1	0	0	0	3510	1087	38	1	561	1	CLEC3A	16	78064695	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08		78064695	12290058	11	3163											
HOXB5	3215	broad.mit.edu	37	chr17	46670992	46670992	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatttagcaactgatagTccgggccatttggataacgc	12	11	9	9	2	0	1	0	1	0	0	1	2	1	2	2	2	3	1	2	2	5	6			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr17:46670992T>C	ENST00000239151.5	-	1	331	c.53A>G	c.(52-54)gAc>gGc	p.D18G	HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	18					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						CAACTGATAGTCCGGGCCATT	0.507																																						uc002inr.3																			0				large_intestine(1)|lung(2)	3						c.(52-54)gAc>gGc		Homo sapiens homeobox B5 (HOXB5), mRNA.							48	50	49					17																	46670992		1951	3900	5851	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670992T>C		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.53A>G	17.37:g.46670992T>C	ENSP00000239151:p.Asp18Gly					HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	p.D18G	NM_002147	NP_002138	P09067	HXB5_HUMAN			0	112	-			18					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.53A>G	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118777	0.56505	.	.	ENSG00000120075	ENST00000239151	D	0.93763	-3.28	5.44	5.44	0.79542	.	0.057310	0.64402	D	0.000003	D	0.94823	0.8328	M	0.90425	3.115	0.80722	D	1	P	0.46784	0.884	B	0.43274	0.414	D	0.95627	0.8686	10	0.87932	D	0	.	15.4969	0.75662	0.0:0.0:0.0:1.0	.	18	P09067	HXB5_HUMAN	G	18	ENSP00000239151:D18G	ENSP00000239151:D18G	D	-	2	0	HOXB5	44025991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.062000	0.61559	0.454000	0.30748	GAC		0.507	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			C	46670992	T	C	46670992	3	2	50	1	0	0	0	0	1	0	0	0	7304	1667	58	4	764	4	HOXB5	17	46670992	Missense_Mutation	SNP	T	TCGA-06-0240-01A-03D-1491-08		46670992	34524218	12	3164											
FUT3	2525	broad.mit.edu	37	chr19	5844280	5844280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccgcccaggccaccagctCggtcttggccgagaggttga	7	6	13	15	3	1	2	0	1	1	1	2	3	1	2	5	4	1	2	5	4	0	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr19:5844280C>T	ENST00000303225.6	-	3	1205	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FUT3_ENST00000589918.1_Missense_Mutation_p.E191K|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.E191K|FUT3_ENST00000589620.1_Missense_Mutation_p.E191K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	191					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCACCAGCTCGGTCTTGGCC	0.667																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(571-573)Gag>Aag		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.							28	30	29					19																	5844280		2202	4297	6499	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844280C>T		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.571G>A	19.37:g.5844280C>T	ENSP00000305603:p.Glu191Lys					FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K|FUT3_uc021unn.1_Missense_Mutation_p.E191K	p.E191K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	668	-			191					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.571G>A	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869945	0.00542	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.18960	2.18;2.18	1.89	-1.56	0.08532	.	0.330873	0.24516	N	0.037846	T	0.03695	0.0105	N	0.00661	-1.28	0.25328	N	0.989056	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.37502	-0.9703	10	0.02654	T	1	.	6.0579	0.19822	0.0:0.28:0.0:0.72	.	191;191;191;191	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	K	191	ENSP00000305603:E191K;ENSP00000416443:E191K	ENSP00000305603:E191K	E	-	1	0	FUT3	5795280	0.000000	0.05858	0.966000	0.40874	0.084000	0.17831	-0.477000	0.06583	-0.576000	0.05974	0.194000	0.17425	GAG		0.667	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		T	5844280	C	T	5844280	3	4	50	1	0	0	0	0	1	0	0	0	6105	893	31	2	518	2	FUT3	19	5844280	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		5844280	53284703	13	3165											
MUC16	94025	broad.mit.edu	37	chr19	9003616	9003616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacttcctggagccagggcGacgcatgtcctcctcatact	8	9	10	14	2	1	0	1	0	0	0	4	3	4	1	4	2	3	1	4	2	2	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr19:9003616G>A	ENST00000397910.4	-	49	40227	c.40024C>T	c.(40024-40026)Cgc>Tgc	p.R13342C	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13344	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGGGCGACGCATGTCC	0.552																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40024-40026)Cgc>Tgc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							246	203	217					19																	9003616		2034	4185	6219	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9003616G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40024C>T	19.37:g.9003616G>A	ENSP00000381008:p.Arg13342Cys					MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R159C|MUC16_uc021uog.1_Intron	p.R13342C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			48	40228	-			13344			SEA 9.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40024C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.339	0.620604	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.29917	1.55	3.24	-1.05	0.10036	SEA (1);	.	.	.	.	T	0.45558	0.1348	M	0.73598	2.24	.	.	.	P;D	0.65815	0.938;0.995	P;D	0.69307	0.469;0.963	T	0.50725	-0.8794	8	0.87932	D	0	0.0858	3.0157	0.06059	0.3282:0.2321:0.4396:0.0	.	20987;13342	Q8WXI7;B5ME49	MUC16_HUMAN;.	C	13342	ENSP00000381008:R13342C	ENSP00000381008:R13342C	R	-	1	0	MUC16	8864616	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.421000	0.07053	0.092000	0.17331	0.455000	0.32223	CGC		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9003616	G	A	9003616	3	1	50	1	0	0	0	0	1	0	0	0	9973	1058	37	2	3643	2	MUC16	19	9003616	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08	3159336	9003616	50125367	14	3166											
MEGF6	1953	broad.mit.edu	37	chr1	3407152	3407152	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggcgggcagtgtgccCgctggggaaaaggagaaaag	11	4	19	7	2	0	1	0	0	0	1	0	4	0	3	1	6	1	2	1	6	4	0	rs542498064		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:3407152C>T	ENST00000356575.4	-	37	4792	c.4566G>A	c.(4564-4566)gcG>gcA	p.A1522A	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Splice_Site_p.A1210A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1522						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGTGTGCCCGCTGGGGAAA	0.672													C|||	1	0.000199681	0	0	5008	,	,		15770	0		0	False		,,,				2504	0.001				Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.e37-1		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							30	39	36					1																	3407152		1951	4131	6082	SO:0001630	splice_region_variant	1953					extracellular region	calcium ion binding	g.chr1:3407152C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4565-1G>A	1.37:g.3407152C>T						MEGF6_uc001akk.3_Splice_Site_p.A1210_splice	p.A1522_splice	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	37	4792	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1522					Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.4565_splice	CCDS41237.1																																																																																				0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	Silent	T	3407152	C	T	3407152	5	4	51	1	0	0	0	0	0	0	1	0	9462	666	23	2	63	2	MEGF6	1	3407152	Splice_Site	SNP	C	TCGA-06-0241-01A-02D-1491-08		3407152	245843469	1	3167											
PER3	8863	broad.mit.edu	37	chr1	7845640	7845640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccgctgtgtccacagcGttcaaggtaaacaagccgga	10	8	10	13	3	2	0	1	0	1	0	4	1	3	1	3	2	3	3	3	2	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:7845640G>A	ENST00000361923.2	+	2	443	c.268G>A	c.(268-270)Gtt>Att	p.V90I	PER3_ENST00000377541.1_Missense_Mutation_p.V90I|PER3_ENST00000377532.3_Missense_Mutation_p.V90I	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	90					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACAGCGTTCAAGGTAA	0.483																																						uc001aop.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(268-270)Gtt>Att		Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.							64	64	64					1																	7845640		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7845640G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.268G>A	1.37:g.7845640G>A	ENSP00000355031:p.Val90Ile					PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aoo.3_Missense_Mutation_p.V90I|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.V90I	p.V90I	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	1	492	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	90					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.268G>A	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624478	0.66901	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.39592	1.07;1.87;1.81	3.97	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.75264	2.295	0.53688	D	0.99997	D;D;D;D	0.76494	0.992;0.999;0.999;0.992	P;P;P;P	0.62298	0.571;0.797;0.9;0.571	T	0.68209	-0.5469	10	0.87932	D	0	.	14.818	0.70050	0.0:0.0:1.0:0.0	.	90;90;90;90	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	90	ENSP00000366764:V90I;ENSP00000366755:V90I;ENSP00000355031:V90I	ENSP00000355031:V90I	V	+	1	0	PER3	7768227	1.000000	0.71417	0.815000	0.32552	0.520000	0.34377	6.705000	0.74644	2.060000	0.61445	0.655000	0.94253	GTT		0.483	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		A	7845640	G	A	7845640	3	1	51	1	0	0	0	0	1	0	0	0	11731	1145	40	1	274	1	PER3	1	7845640	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	4438488	7845640	241404981	2	3168											
SLC2A7	155184	broad.mit.edu	37	chr1	9064868	9064868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccagtgcactgccccGtccaccatgaaagctgcccg	8	6	11	16	2	0	2	0	2	0	0	1	2	1	2	6	0	5	2	6	0	1	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:9064868G>A	ENST00000400906.1	-	11	1262	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	421					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.D421D(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACTGCCCCGTCCACCATGA	0.652																																						uc009vmo.1																			1	Substitution - coding silent(1)	p.D421D(2)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(1261-1263)gaC>gaT		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.							76	68	71					1																	9064868		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9064868G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1263C>T	1.37:g.9064868G>A							p.D421D	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1263	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	421					A2A333	Silent	SNP	ENST00000400906.1	37	c.1263C>T	CCDS98.2																																																																																				0.652	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		A	9064868	G	A	9064868	2	1	51	1	0	0	0	0	0	0	0	1	14550	1136	40	1		1	SLC2A7	1	9064868	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	1219228	9064868	240185753	3	3169											
CSF3R	1441	broad.mit.edu	37	chr1	36932400	36932400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttggtgatgggtggcGtgccaaggccgggcagctgg	5	8	20	8	2	0	2	0	2	0	0	0	2	0	2	2	6	3	3	2	6	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:36932400G>A	ENST00000373106.1	-	17	2616	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	CSF3R_ENST00000418048.2_Missense_Mutation_p.T690M|CSF3R_ENST00000373103.1_Missense_Mutation_p.T717M|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Missense_Mutation_p.T690M|CSF3R_ENST00000338937.5_Missense_Mutation_p.R659C|CSF3R_ENST00000361632.4_Missense_Mutation_p.T690M|CSF3R_ENST00000331941.5_Missense_Mutation_p.T690M|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000440588.2_Missense_Mutation_p.T717M	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	690					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.T717M(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATGGGTGGCGTGCCAAGGCC	0.612																																						uc001caw.2																			1	Substitution - Missense(1)	p.T717M(1)	central_nervous_system(1)	central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2068-2070)aCg>aTg		Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						55	58	57					1																	36932400		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932400G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2069C>T	1.37:g.36932400G>A	ENSP00000362198:p.Thr690Met					MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Missense_Mutation_p.T690M|CSF3R_uc001cax.2_Missense_Mutation_p.T717M	p.T690M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			16	2653	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	690						Missense_Mutation	SNP	ENST00000373106.1	37	c.2069C>T	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.988|3.988	-0.004969|-0.004969	0.07773|0.07773	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465;ENST00000338937|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588	T|T;T;T;T;T;T;T	0.33654|0.49139	1.4|0.94;0.79;0.89;0.94;0.79;0.94;0.89	5.81|5.81	1.03|1.03	0.20045|0.20045	.|.	.|.	.|.	.|.	.|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.02539|0.02539	-0.55|-0.55	0.24556|0.24556	N|N	0.993994|0.993994	B|B;B;B;B	0.02656|0.02656	0.0|0.0;0.0;0.0;0.0	B|B;B;B;B	0.01281|0.04013	0.0|0.0;0.001;0.0;0.001	T|T	0.21449|0.21449	-1.0245|-1.0245	9|9	0.66056|0.27785	D|T	0.02|0.31	-3.5275|-3.5275	7.4164|7.4164	0.27047|0.27047	0.653:0.0:0.347:0.0|0.653:0.0:0.347:0.0	.|.	659|690;717;690;690	E1B6W6|Q1ZYL6;Q99062-3;Q99062;Q99062-4	.|.;.;CSF3R_HUMAN;.	C|M	242;659|690;690;717;690;690;690;717	ENSP00000345013:R659C|ENSP00000362198:T690M;ENSP00000362196:T690M;ENSP00000362195:T717M;ENSP00000355406:T690M;ENSP00000332180:T690M;ENSP00000401588:T690M;ENSP00000397568:T717M	ENSP00000345013:R659C|ENSP00000332180:T690M	R|T	-|-	1|2	0|0	CSF3R|CSF3R	36704987|36704987	0.766000|0.766000	0.28496|0.28496	0.394000|0.394000	0.26270|0.26270	0.260000|0.260000	0.26232|0.26232	0.546000|0.546000	0.23284|0.23284	0.141000|0.141000	0.18875|0.18875	-1.004000|-1.004000	0.02495|0.02495	CGC|ACG		0.612	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		A	36932400	G	A	36932400	3	1	51	1	0	0	0	0	1	0	0	0	3937	1145	40	1	554	1	CSF3R	1	36932400	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	27867532	36932400	212318221	4	3170											
DNALI1	7802	broad.mit.edu	37	chr1	38027710	38027710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggagacggaaaagagagAcctggagaggcaagtgaacg	16	4	16	5	2	0	5	0	1	0	4	0	9	0	6	1	4	1	1	1	4	4	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:38027710A>G	ENST00000296218.7	+	5	681	c.671A>G	c.(670-672)gAc>gGc	p.D224G	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Missense_Mutation_p.D76G	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	202					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAAGAGAGACCTGGAGAGG	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cbj.3																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(670-672)gAc>gGc		Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.							97	100	99					1																	38027710		2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38027710A>G	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.671A>G	1.37:g.38027710A>G	ENSP00000296218:p.Asp224Gly		OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	DNALI1_uc010oie.2_Non-coding_Transcript	p.D224G	NM_003462	NP_003453	O14645	IDLC_HUMAN			4	681	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	202					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.671A>G	CCDS420.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506333	0.64410	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.47528	0.84	5.41	5.41	0.78517	.	0.091594	0.64402	D	0.000001	T	0.64692	0.2621	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	P	0.59703	0.862	T	0.65125	-0.6244	10	0.37606	T	0.19	-12.7777	15.738	0.77863	1.0:0.0:0.0:0.0	.	202	O14645	IDLC_HUMAN	G	224;76	ENSP00000296218:D224G	ENSP00000296218:D224G	D	+	2	0	DNALI1	37800297	1.000000	0.71417	0.923000	0.36655	0.989000	0.77384	9.287000	0.95975	2.171000	0.68590	0.482000	0.46254	GAC		0.557	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		G	38027710	A	G	38027710	3	3	51	1	0	0	0	0	1	0	0	0	4659	275	10	4	689	4	DNALI1	1	38027710	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	1095310	38027710	211222911	5	3171											
FAM46C	54855	broad.mit.edu	37	chr1	118165644	118165644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataactctgaaggacatcGtccagaccgtccgcagtcgg	11	7	11	12	4	1	3	0	1	1	2	5	4	3	4	3	2	1	1	3	2	2	1	rs538766512		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:118165644G>A	ENST00000369448.3	+	2	401	c.154G>A	c.(154-156)Gtc>Atc	p.V52I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	52								p.V52I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAAGGACATCGTCCAGACCGT	0.567			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			G|||	1	0.000199681	0	0	5008	,	,		22271	0		0	False		,,,				2504	0.001					uc021osq.1				Rec	yes		1	1p12	54855	"Mis, F, O"	"family with sequence similarity 46, member C"			L			MM		1	Substitution - Missense(1)	p.V52I(2)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(154-156)Gtc>Atc		Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.							84	78	80					1																	118165644		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118165644G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.154G>A	1.37:g.118165644G>A	ENSP00000358458:p.Val52Ile	Multiple Myeloma(3;1.13e-06)				FAM46C_uc001ehe.3_Missense_Mutation_p.V52I	p.V52I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	0	154	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	52					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.154G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594007	0.46214	.	.	ENSG00000183508	ENST00000369448	T	0.23348	1.91	5.75	5.75	0.90469	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000010	T	0.26484	0.0647	N	0.25647	0.755	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.02179	-1.1200	10	0.15499	T	0.54	-12.7603	18.9258	0.92544	0.0:0.0:1.0:0.0	.	52	Q5VWP2	FA46C_HUMAN	I	52	ENSP00000358458:V52I	ENSP00000358458:V52I	V	+	1	0	FAM46C	117967167	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	7.928000	0.87587	2.711000	0.92665	0.655000	0.94253	GTC		0.567	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		A	118165644	G	A	118165644	3	1	51	1	0	0	0	0	1	0	0	0	5567	1145	40	1	156	1	FAM46C	1	118165644	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	80137934	118165644	131084977	6	3172											
ZNF697	90874	broad.mit.edu	37	chr1	120165750	120165750	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacatgtagggcttctCgcccgtgtgcacgcgctggt	5	9	15	12	4	1	0	0	0	1	0	2	1	1	1	1	3	2	5	1	3	1	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:120165750C>A	ENST00000421812.2	-	3	1335	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672																																						uc001ehy.1																			0				ovary(2)	2						c.(1216-1218)Gag>Tag		Homo sapiens zinc finger protein 697 (ZNF697), mRNA.							16	17	17					1																	120165750		2199	4294	6493	SO:0001587	stop_gained	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165750C>A	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1216G>T	1.37:g.120165750C>A	ENSP00000396857:p.Glu406*						p.E406*	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	2	1330	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	406					Q96IT2	Nonsense_Mutation	SNP	ENST00000421812.2	37	c.1216G>T	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647371	0.87958	.	.	ENSG00000143067	ENST00000421812	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6765	0.77332	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000396857:E406X	E	-	1	0	ZNF697	119967273	0.998000	0.40836	1.000000	0.80357	0.260000	0.26232	4.796000	0.62496	2.384000	0.81235	0.563000	0.77884	GAG		0.672	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		A	120165750	C	A	120165750	4	1	51	1	0	0	0	0	0	1	0	0	18097	893	31	5	425	5	ZNF697	1	120165750	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	2000106	120165750	129084871	7	3173											
AQP10	89872	broad.mit.edu	37	chr1	154294529	154294529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctacgtgggtggtaacGtctcaggtgaggagggtggg	7	9	18	7	2	2	1	1	1	2	0	3	2	2	2	1	6	2	1	1	6	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:154294529G>A	ENST00000324978.3	+	2	266	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	AQP10_ENST00000484864.1_Missense_Mutation_p.V76I|AQP10_ENST00000355197.4_Intron	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	76					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTGGTAACGTCTCAGGTGA	0.547																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(226-228)Gtc>Atc		Homo sapiens aquaporin 10 (AQP10), mRNA.							65	55	59					1																	154294529		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154294529G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.226G>A	1.37:g.154294529G>A	ENSP00000318355:p.Val76Ile						p.V76I	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	266	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		76					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.226G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018857	0.54576	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.82984	-1.67;-1.67	5.25	4.34	0.51931	Aquaporin-like (2);	0.062959	0.64402	D	0.000007	T	0.58235	0.2108	N	0.17631	0.505	0.31011	N	0.719182	P;P	0.51933	0.664;0.949	B;P	0.46253	0.292;0.509	T	0.55335	-0.8157	10	0.18710	T	0.47	.	9.5679	0.39409	0.1683:0.0:0.8317:0.0	.	76;76	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	I	76	ENSP00000318355:V76I;ENSP00000420341:V76I	ENSP00000318355:V76I	V	+	1	0	AQP10	152561153	0.955000	0.32602	0.997000	0.53966	0.911000	0.54048	1.916000	0.39986	1.443000	0.47586	0.511000	0.50034	GTC		0.547	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		A	154294529	G	A	154294529	3	1	51	1	0	0	0	0	1	0	0	0	822	1145	40	1	232	1	AQP10	1	154294529	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	34128779	154294529	94956092	8	3174											
TMEM79	84283	broad.mit.edu	37	chr1	156255048	156255048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagaccctggccctactgGaagtgaagaggtctgattcc	10	8	13	10	0	1	4	0	2	1	2	2	6	2	5	3	4	1	0	3	4	3	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:156255048G>A	ENST00000405535.2	+	2	202	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Missense_Mutation_p.E11K|TMEM79_ENST00000295694.5_Missense_Mutation_p.E11K	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	11					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGCCCTACTGGAAGTGAAGAG	0.597																																						uc010phi.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(31-33)Gaa>Aaa		Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.							47	51	49					1																	156255048		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255048G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.31G>A	1.37:g.156255048G>A	ENSP00000384748:p.Glu11Lys					SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_5'UTR|TMEM79_uc009wrw.3_Missense_Mutation_p.E11K	p.E11K	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			1	227	+	Hepatocellular(266;0.158)		11					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.31G>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154704	0.57259	.	.	ENSG00000163472	ENST00000295694;ENST00000357501;ENST00000405535;ENST00000456810	T;T	0.55234	0.53;0.53	6.07	5.15	0.70609	.	0.364866	0.28476	N	0.015212	T	0.28433	0.0703	L	0.32530	0.975	0.30334	N	0.786399	P	0.35575	0.51	B	0.36666	0.23	T	0.26573	-1.0099	10	0.66056	D	0.02	-13.9445	13.4896	0.61386	0.0:0.1562:0.8438:0.0	.	11	Q9BSE2	TMM79_HUMAN	K	11	ENSP00000295694:E11K;ENSP00000384748:E11K	ENSP00000295694:E11K	E	+	1	0	TMEM79	154521672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.662000	0.54510	1.561000	0.49584	0.655000	0.94253	GAA		0.597	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		A	156255048	G	A	156255048	3	1	51	1	0	0	0	0	1	0	0	0	16200	1175	41	3	33	3	TMEM79	1	156255048	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	1960519	156255048	92995573	9	3175											
CD207	50489	broad.mit.edu	37	chr2	71060827	71060827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgccctggagtgccCggatctttgtatttaaagca	9	11	10	11	1	1	0	0	0	1	0	1	2	1	2	3	2	4	3	3	2	4	4	rs567546839	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:71060827C>T	ENST00000410009.3	-	3	560	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGGAGTGCCCGGATCTTTGT	0.428													C|||	13	0.00259585	0	0	5008	,	,		20139	0		0	False		,,,				2504	0.0133					uc002shg.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(514-516)cGg>cAg		Homo sapiens CD207 molecule, langerin (CD207), mRNA.							81	72	75					2																	71060827		1862	4104	5966	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060827C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.515G>A	2.37:g.71060827C>T	ENSP00000386378:p.Arg172Gln						p.R172Q	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			2	562	-			172						Missense_Mutation	SNP	ENST00000410009.3	37	c.515G>A		.	.	.	.	.	.	.	.	.	.	C	0.319	-0.962903	0.02249	.	.	ENSG00000116031	ENST00000410009	T	0.28069	1.63	4.12	-3.86	0.04230	.	1.382280	0.04510	N	0.382668	T	0.12263	0.0298	N	0.04245	-0.25	0.09310	N	1	B	0.14012	0.009	B	0.01281	0.0	T	0.21552	-1.0242	10	0.15499	T	0.54	.	6.1748	0.20437	0.1481:0.2122:0.0:0.6397	.	172	Q9UJ71	CLC4K_HUMAN	Q	172	ENSP00000386378:R172Q	ENSP00000386378:R172Q	R	-	2	0	CD207	70914335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.572000	0.05881	-0.912000	0.03837	-0.181000	0.13052	CGG		0.428	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		T	71060827	C	T	71060827	3	4	51	1	0	0	0	0	1	0	0	0	2983	652	23	2	487	2	CD207	2	71060827	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		71060827	172138546	10	3176											
TBC1D8	11138	broad.mit.edu	37	chr2	101655055	101655055	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggccaccttgcttctGatactgacaatgatgggatg	10	11	12	8	0	1	3	0	3	1	0	1	5	1	5	2	3	2	1	2	3	3	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:101655055G>T	ENST00000376840.4	-	7	1097	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	TBC1D8_ENST00000409318.1_Silent_p.I381I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	366					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTTGCTTCTGATACTGACAA	0.612																																						uc010fiv.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1096-1098)atC>atA		Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.							130	139	136					2																	101655055		2141	4242	6383	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101655055G>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1098C>A	2.37:g.101655055G>T						TBC1D8_uc010yvw.2_Silent_p.I381I|TBC1D8_uc002tau.4_Silent_p.I123I	p.I366I	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			6	1229	-			366					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.1098C>A	CCDS46375.1																																																																																				0.612	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		T	101655055	G	T	101655055	2	4	51	1	0	0	0	0	0	0	0	1	15622	1280	45	5		5	TBC1D8	2	101655055	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	30594228	101655055	141544318	11	3177											
LRP1B	53353	broad.mit.edu	37	chr2	141597647	141597647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtttccatcggtccagtAgagttttcttaattcaaaag	10	16	8	7	1	2	1	1	0	1	1	5	1	4	1	2	1	0	3	2	1	4	6			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:141597647A>T	ENST00000389484.3	-	31	6093	c.5122T>A	c.(5122-5124)Tac>Aac	p.Y1708N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1708					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGGTCCAGTAGAGTTTTCTT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5122-5124)Tac>Aac		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							75	70	71					2																	141597647		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141597647A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5122T>A	2.37:g.141597647A>T	ENSP00000374135:p.Tyr1708Asn	TSP Lung(27;0.18)					p.Y1708N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	6094	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1708					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5122T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557492	0.86231	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94092	-3.35	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.082057	0.51477	U	0.000096	D	0.96784	0.8950	M	0.93241	3.395	0.54753	D	0.99998	D	0.61080	0.989	P	0.55087	0.768	D	0.97707	1.0188	10	0.87932	D	0	.	15.5873	0.76495	1.0:0.0:0.0:0.0	.	1708	Q9NZR2	LRP1B_HUMAN	N	1708;1646	ENSP00000374135:Y1708N	ENSP00000374135:Y1708N	Y	-	1	0	LRP1B	141314117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.852000	0.92215	2.087000	0.62958	0.377000	0.23210	TAC		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141597647	A	T	141597647	3	4	51	1	0	0	0	0	1	0	0	0	8955	420	15	5	8921	5	LRP1B	2	141597647	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	39942592	141597647	101601726	12	3178											
ARL8B	55207	broad.mit.edu	37	chr3	5214343	5214343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaagttacatgatagAtgctgcagatcgtgaaaaga	14	14	9	4	1	0	5	0	2	0	3	1	5	0	5	0	0	3	3	0	0	5	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:5214343A>G	ENST00000256496.3	+	4	536	c.290A>G	c.(289-291)gAt>gGt	p.D97G	AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_Intron|ARL8B_ENST00000419534.2_Missense_Mutation_p.D97G	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	97					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TACATGATAGATGCTGCAGAT	0.323																																						uc003bqg.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9						c.(289-291)gAt>gGt		Homo sapiens ADP-ribosylation factor-like 8B (ARL8B), mRNA.							68	69	68					3																	5214343		2203	4296	6499	SO:0001583	missense	55207				cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	g.chr3:5214343A>G	AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25564	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10C"	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.290A>G	3.37:g.5214343A>G	ENSP00000256496:p.Asp97Gly					ARL8B_uc011asx.2_Missense_Mutation_p.D88G|ARL8B_uc011asy.2_Missense_Mutation_p.D97G	p.D97G	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	3	511	+			97					B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	c.290A>G	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864670	0.91511	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.79845	-1.31;-1.31	5.46	5.46	0.80206	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96947	0.9692	10	0.87932	D	0	-2.6141	15.5254	0.75901	1.0:0.0:0.0:0.0	.	97;88;97	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	G	97;149;97	ENSP00000256496:D97G;ENSP00000402996:D97G	ENSP00000256496:D97G	D	+	2	0	ARL8B	5189343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.999000	0.93557	2.067000	0.61834	0.383000	0.25322	GAT		0.323	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184		G	5214343	A	G	5214343	3	3	51	1	0	0	0	0	1	0	0	0	947	333	12	4	304	4	ARL8B	3	5214343	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		5214343	192808087	13	3179											
ITGA9	3680	broad.mit.edu	37	chr3	37547525	37547525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccacttctctcacccGtccaccattgatgtggtagg	6	11	10	14	1	2	1	1	1	1	0	4	1	3	1	4	3	0	2	4	3	1	3	rs145062473	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:37547525G>A	ENST00000264741.5	+	7	1033	c.777G>A	c.(775-777)ccG>ccA	p.P259P	ITGA9_ENST00000422441.1_Silent_p.P259P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	259					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.P259P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCTCACCCGTCCACCATTG	0.537													G|||	3	0.000599042	0	0.0014	5008	,	,		20348	0		0.001	False		,,,				2504	0.001					uc003chd.3																			1	Substitution - coding silent(1)	p.P259P(2)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(775-777)ccG>ccA		Homo sapiens integrin, alpha 9 (ITGA9), mRNA.		G		0,4406		0,0,2203	63	49	54		777	-9	0	3	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGA9	NM_002207.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		259/1036	37547525	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37547525G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.777G>A	3.37:g.37547525G>A						ITGA9_uc003chc.3_Silent_p.P259P	p.P259P	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	6	830	+			259					Q14638	Silent	SNP	ENST00000264741.5	37	c.777G>A	CCDS2669.1																																																																																				0.537	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37547525	G	A	37547525	2	1	51	1	0	0	0	0	0	0	0	1	7883	1132	40	1		1	ITGA9	3	37547525	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	32333182	37547525	160474905	14	3180											
CELSR3	1951	broad.mit.edu	37	chr3	48679336	48679336	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctcggcagagtggccgTtggaagcgcccccgcgtccg	4	6	16	15	6	0	1	0	0	0	1	2	2	1	2	4	3	2	4	4	3	1	1	rs199889115		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:48679336T>G	ENST00000164024.4	-	32	9052	c.8772A>C	c.(8770-8772)caA>caC	p.Q2924H	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q2929H|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2924					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGTGGCCGTTGGAAGCGCC	0.622																																						uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9064-9066)caA>caC		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							14	16	15					3																	48679336		2192	4285	6477	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48679336T>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8772A>C	3.37:g.48679336T>G	ENSP00000164024:p.Gln2924His					CELSR3_uc010hkf.3_Missense_Mutation_p.Q214H|CELSR3_uc010hkg.3_Missense_Mutation_p.Q907H|CELSR3_uc003cul.3_Missense_Mutation_p.Q2924H	p.Q3022H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	9066	-			2924					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9066A>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429594	0.43122	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70399	-0.48;-0.48	5.03	2.76	0.32466	.	.	.	.	.	T	0.75517	0.3860	M	0.64997	1.995	0.44201	D	0.997028	B;B;D	0.67145	0.001;0.0;0.996	B;B;P	0.59703	0.003;0.001;0.862	T	0.71283	-0.4639	9	0.38643	T	0.18	.	8.4937	0.33115	0.0:0.6944:0.0:0.3056	.	2929;2924;3022	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	H	2924;2929	ENSP00000164024:Q2924H;ENSP00000445694:Q2929H	ENSP00000164024:Q2924H	Q	-	3	2	CELSR3	48654340	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.381000	0.34362	0.378000	0.24764	-0.385000	0.06624	CAA		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		G	48679336	T	G	48679336	3	3	51	1	0	0	0	0	1	0	0	0	3223	1722	60	5	1182	5	CELSR3	3	48679336	Missense_Mutation	SNP	T	TCGA-06-0241-01A-02D-1491-08	11131811	48679336	149343094	15	3181											
MAGI1	9223	broad.mit.edu	37	chr3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagattttaaaaggatctgGttttttctggccagagctgt	9	15	10	7	0	2	2	0	0	2	2	2	3	2	3	2	3	1	2	2	3	2	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567																																						uc003dmn.3																			2	Substitution - Missense(2)	p.P789T(3)	large_intestine(2)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2365-2367)Cca>Aca		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.							96	96	96					3																	65376868		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376868G>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr					MAGI1_uc003dmm.3_Missense_Mutation_p.P789T|MAGI1_uc003dmo.3_Missense_Mutation_p.P789T|MAGI1_uc003dmp.3_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	p.P789T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	13	2891	-		Lung NSC(201;0.0016)	789					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2365C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65376868	G	T	65376868	3	4	51	1	0	0	0	0	1	0	0	0	9190	1261	44	5	2297	5	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	16697532	65376868	132645562	16	3182											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459902	122459902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggattctctgcagttttcAgggcacacacaagcatacgg	10	10	11	10	1	2	0	1	0	1	0	3	1	2	1	0	3	3	4	0	3	2	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:122459902A>G	ENST00000306103.2	-	7	1027	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	295						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGCAGTTTTCAGGGCACACAC	0.458																																						uc003efu.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(883-885)cTg>cCg		Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.							131	134	133					3																	122459902		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459902A>G	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.884T>C	3.37:g.122459902A>G	ENSP00000302562:p.Leu295Pro					HSPBAP1_uc003eft.2_Missense_Mutation_p.L6P	p.L295P	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1023	-			295					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.884T>C	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982562	0.74474	.	.	ENSG00000169087	ENST00000306103	T	0.13196	2.61	5.23	5.23	0.72850	Cupin, JmjC-type (1);	0.467951	0.21435	N	0.074600	T	0.29355	0.0731	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.01591	-1.1317	10	0.87932	D	0	.	12.9943	0.58638	1.0:0.0:0.0:0.0	.	295	Q96EW2	HBAP1_HUMAN	P	295	ENSP00000302562:L295P	ENSP00000302562:L295P	L	-	2	0	HSPBAP1	123942592	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.530000	0.67141	2.201000	0.70794	0.533000	0.62120	CTG		0.458	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		G	122459902	A	G	122459902	3	3	51	1	0	0	0	0	1	0	0	0	7425	188	7	4	590	4	HSPBAP1	3	122459902	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	57083034	122459902	75562528	17	3183											
YEATS2	55689	broad.mit.edu	37	chr3	183454552	183454552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggggtgagtttcccGtcagagttcaagttcatttt	7	14	13	7	1	3	2	3	1	0	1	4	3	4	2	1	3	0	4	1	3	1	5	rs200810151		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:183454552G>A	ENST00000305135.5	+	8	1054	c.859G>A	c.(859-861)Gtc>Atc	p.V287I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	287	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGTTTCCCGTCAGAGTTCA	0.418																																						uc003fly.2																			0		p.P286P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(859-861)Gtc>Atc		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.		G	ILE/VAL	2,3702		0,2,1850	137	128	131		859	5.5	1	3		131	0,8210		0,0,4105	no	missense	YEATS2	NM_018023.4	29	0,2,5955	AA,AG,GG		0.0,0.054,0.0168	possibly-damaging	287/1423	183454552	2,11912	1852	4105	5957	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183454552G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.859G>A	3.37:g.183454552G>A	ENSP00000306983:p.Val287Ile						p.V287I	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1054	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		287			YEATS.		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.859G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036457	0.93630	5.4E-4	0.0	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.18338	2.22	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	T	0.15046	0.0363	N	0.04043	-0.29	0.80722	D	1	P	0.45986	0.87	P	0.49953	0.627	T	0.29852	-0.9998	10	0.23891	T	0.37	-21.7388	19.4699	0.94959	0.0:0.0:1.0:0.0	.	287	Q9ULM3	YETS2_HUMAN	I	287	ENSP00000306983:V287I	ENSP00000306983:V287I	V	+	1	0	YEATS2	184937246	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.528000	0.98046	2.591000	0.87537	0.650000	0.86243	GTC		0.418	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		A	183454552	G	A	183454552	3	1	51	1	0	0	0	0	1	0	0	0	17469	1145	40	1	885	1	YEATS2	3	183454552	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	60994650	183454552	14567878	18	3184											
PDGFRA	5156	broad.mit.edu	37	chr4	55133562	55133562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacagtggagattacgAatgtgctgcccgccaggcta	12	7	13	9	2	0	2	0	0	0	2	0	5	0	2	2	2	3	2	2	2	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55133562A>G	ENST00000257290.5	+	6	1197	c.866A>G	c.(865-867)gAa>gGa	p.E289G	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	289	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGAGATTACGAATGTGCTGCC	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0		p.E289K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(865-867)gAa>gGa		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						88	90	89					4																	55133562		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133562A>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.866A>G	4.37:g.55133562A>G	ENSP00000257290:p.Glu289Gly	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E183G|PDGFRA_uc003ham.2_Non-coding_Transcript	p.E289G	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1197	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		289			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.866A>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846722	0.71603	.	.	ENSG00000134853	ENST00000257290	T	0.68903	-0.36	5.67	4.48	0.54585	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33005	U	0.005396	T	0.64549	0.2608	M	0.65975	2.015	0.80722	D	1	P;P	0.40834	0.73;0.698	B;B	0.40702	0.219;0.338	T	0.61821	-0.6984	10	0.31617	T	0.26	.	11.615	0.51083	0.9302:0.0:0.0698:0.0	.	289;289	P16234-3;P16234	.;PGFRA_HUMAN	G	289	ENSP00000257290:E289G	ENSP00000257290:E289G	E	+	2	0	PDGFRA	54828319	0.996000	0.38824	0.907000	0.35723	0.988000	0.76386	4.423000	0.59861	0.978000	0.38470	0.260000	0.18958	GAA		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		G	55133562	A	G	55133562	3	3	51	1	0	0	0	0	1	0	0	0	11661	246	9	4	884	4	PDGFRA	4	55133562	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		55133562	136020714	19	3185											
KDR	3791	broad.mit.edu	37	chr4	55955634	55955634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttaccccaggatatggaGaagcacctagaataaaacag	16	8	8	9	0	1	2	0	0	1	2	1	4	1	3	3	2	3	1	3	2	7	5	rs138424770		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55955634G>A	ENST00000263923.4	-	25	3606	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATGGAGAAGCACCTAG	0.393			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3310-3312)tCt>tTt		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						60	58	59					4																	55955634		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955634G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3311C>T	4.37:g.55955634G>A	ENSP00000263923:p.Ser1104Phe	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S1104F	p.S1104F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		24	3613	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1104			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3311C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741267	0.89573	.	.	ENSG00000128052	ENST00000263923	D	0.89123	-2.47	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.119082	0.64402	D	0.000018	D	0.92189	0.7523	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92932	0.6364	10	0.87932	D	0	.	19.1242	0.93375	0.0:0.0:1.0:0.0	.	1104	P35968	VGFR2_HUMAN	F	1104	ENSP00000263923:S1104F	ENSP00000263923:S1104F	S	-	2	0	KDR	55650391	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.869000	0.99810	2.611000	0.88343	0.467000	0.42956	TCT		0.393	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55955634	G	A	55955634	3	1	51	1	0	0	0	0	1	0	0	0	8139	942	33	3	783	3	KDR	4	55955634	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	822072	55955634	135198642	20	3186											
KIAA1109	84162	broad.mit.edu	37	chr4	123107257	123107257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcatgtctataatcgctCggatctttatggacgccttc	8	16	7	10	3	3	0	1	0	2	0	6	2	3	2	1	2	0	1	1	2	3	6	rs553523360		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:123107257C>T	ENST00000264501.4	+	7	798	c.425C>T	c.(424-426)tCg>tTg	p.S142L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S142L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S142L			Q2LD37	K1109_HUMAN	KIAA1109	142					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATAATCGCTCGGATCTTTAT	0.358													C|||	1	0.000199681	0	0	5008	,	,		12399	0		0.001	False		,,,				2504	0					uc003ieh.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(424-426)tCg>tTg		Homo sapiens KIAA1109 (KIAA1109), mRNA.							112	109	110					4																	123107257		1822	4086	5908	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107257C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.425C>T	4.37:g.123107257C>T	ENSP00000264501:p.Ser142Leu					KIAA1109_uc003iei.1_5'UTR	p.S142L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			4	470	+			142					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.425C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008146	0.75046	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.94280	-3.39;-3.39;-3.39	5.34	5.34	0.76211	.	0.337088	0.18440	U	0.141172	D	0.85252	0.5654	N	0.12746	0.255	0.58432	D	0.999995	P	0.39404	0.672	B	0.25614	0.062	D	0.85695	0.1309	10	0.37606	T	0.19	.	19.0277	0.92939	0.0:1.0:0.0:0.0	.	142	Q2LD37	K1109_HUMAN	L	142	ENSP00000264501:S142L;ENSP00000373390:S142L;ENSP00000389925:S142L	ENSP00000264501:S142L	S	+	2	0	KIAA1109	123326707	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.614000	0.82996	2.495000	0.84180	0.467000	0.42956	TCG		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123107257	C	T	123107257	3	4	51	1	0	0	0	0	1	0	0	0	8208	893	31	2	443	2	KIAA1109	4	123107257	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	67151623	123107257	68047019	21	3187											
ANKRD50	57182	broad.mit.edu	37	chr4	125593092	125593092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtgcttccaatggtgttAaattcttggcttgacaggta	8	16	10	7	0	1	1	0	1	1	0	2	1	2	1	1	3	1	4	1	3	4	7			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:125593092A>G	ENST00000504087.1	-	4	2377	c.1340T>C	c.(1339-1341)tTa>tCa	p.L447S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L268S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	447										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATGGTGTTAAATTCTTGGC	0.388																																						uc010inw.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1339-1341)tTa>tCa		Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.							121	121	121					4																	125593092		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125593092A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1340T>C	4.37:g.125593092A>G	ENSP00000425658:p.Leu447Ser					ANKRD50_uc011cgo.2_Missense_Mutation_p.L268S	p.L447S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN			3	2378	-			447					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1340T>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179116	0.57800	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.73363	-0.74;-0.71	5.39	4.21	0.49690	.	0.000000	0.64402	D	0.000006	D	0.82604	0.5073	M	0.64170	1.965	0.48901	D	0.999721	D	0.76494	0.999	D	0.75484	0.986	T	0.83283	-0.0037	10	0.72032	D	0.01	.	11.0115	0.47665	0.9277:0.0:0.0723:0.0	.	447	Q9ULJ7	ANR50_HUMAN	S	447;268	ENSP00000425658:L447S;ENSP00000425355:L268S	ENSP00000425658:L447S	L	-	2	0	ANKRD50	125812542	1.000000	0.71417	0.849000	0.33467	0.995000	0.86356	8.571000	0.90752	1.074000	0.40909	0.454000	0.30748	TTA		0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125593092	A	G	125593092	3	3	51	1	0	0	0	0	1	0	0	0	677	372	13	4	2953	4	ANKRD50	4	125593092	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	2485835	125593092	65561184	22	3188											
SH3D19	152503	broad.mit.edu	37	chr4	152096196	152096196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtataaggccagggtttGgtttctttggcaattcaggt	7	16	12	6	1	2	0	1	0	1	0	3	0	2	0	1	5	0	4	1	5	3	7			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:152096196G>C	ENST00000409252.2	-	6	1027	c.320C>G	c.(319-321)cCa>cGa	p.P107R	SH3D19_ENST00000427414.2_Missense_Mutation_p.P107R|SH3D19_ENST00000455740.1_Missense_Mutation_p.P107R|SH3D19_ENST00000409598.4_Missense_Mutation_p.P107R|SH3D19_ENST00000424281.1_Missense_Mutation_p.P107R|SH3D19_ENST00000514152.1_Missense_Mutation_p.P107R|SH3D19_ENST00000304527.4_Missense_Mutation_p.P107R|SH3D19_ENST00000604030.1_5'Flank			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	107	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGGGTTTGGTTTCTTTGG	0.537																																						uc010ipl.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(319-321)cCa>cGa		Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.							102	102	102					4																	152096196		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152096196G>C	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.320C>G	4.37:g.152096196G>C	ENSP00000386848:p.Pro107Arg					SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	p.P107R	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			6	1410	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	107			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.320C>G	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426366	0.83667	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46;3.46;3.46	6.07	6.07	0.98685	.	0.090745	0.49305	D	0.000159	T	0.26159	0.0638	M	0.64997	1.995	0.51012	D	0.999907	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00015	-1.2400	10	0.72032	D	0.01	-11.5977	20.6439	0.99570	0.0:0.0:1.0:0.0	.	107;107;107	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	R	107	ENSP00000387030:P107R;ENSP00000302913:P107R;ENSP00000416708:P107R;ENSP00000404542:P107R;ENSP00000415694:P107R;ENSP00000386848:P107R;ENSP00000423449:P107R	ENSP00000302913:P107R	P	-	2	0	SH3D19	152315646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.884000	0.98904	0.655000	0.94253	CCA		0.537	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		C	152096196	G	C	152096196	3	2	51	1	0	0	0	0	1	0	0	0	14249	1348	47	5	2112	5	SH3D19	4	152096196	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	26503104	152096196	39058080	23	3189											
PCDHA2	56146	broad.mit.edu	37	chr5	140176220	140176220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	8	6	15	12	6	0	1	0	0	0	1	1	4	0	2	1	3	4	3	1	3	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:140176220C>T	ENST00000526136.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA2_ENST00000520672.2_Silent_p.D557D|PCDHA2_ENST00000378132.1_Silent_p.D557D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687																																						uc003lhd.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1669-1671)gaC>gaT		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							81	80	80					5																	140176220		2203	4298	6501	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140176220C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1671C>T	5.37:g.140176220C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.D557D|PCDHAC2_uc011czy.2_Silent_p.D557D	p.D557D	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1777	+			571			Cadherin 5.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1671C>T	CCDS54914.1																																																																																				0.687	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140176220	C	T	140176220	2	4	51	1	0	0	0	0	0	0	0	1	11524	535	19	1		1	PCDHA2	5	140176220	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		140176220	40739040	24	3190											
RBM27	54439	broad.mit.edu	37	chr5	145598558	145598558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaactagatgtgatgctGatccttcagccttagccaac	10	12	8	11	0	2	3	1	2	1	1	3	3	3	3	3	0	5	1	3	0	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:145598558G>A	ENST00000265271.5	+	2	236	c.70G>A	c.(70-72)Gat>Aat	p.D24N	RBM27_ENST00000506502.1_Missense_Mutation_p.D24N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	24					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTGATGCTGATCCTTCAGC	0.333																																						uc003lnz.4																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(70-72)Gat>Aat		Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.							130	117	121					5																	145598558		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145598558G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.70G>A	5.37:g.145598558G>A	ENSP00000265271:p.Asp24Asn					RBM27_uc003lny.2_Missense_Mutation_p.D24N	p.D24N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	236	+			24					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.70G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433943	0.96150	.	.	ENSG00000091009	ENST00000265271	T	0.45276	0.9	5.69	5.69	0.88448	Splicing factor PWI (2);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.996;0.999	T	0.79562	-0.1752	10	0.87932	D	0	-16.5456	19.821	0.96592	0.0:0.0:1.0:0.0	.	24;24	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	24	ENSP00000265271:D24N	ENSP00000265271:D24N	D	+	1	0	RBM27	145578751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.819000	0.99357	2.683000	0.91414	0.655000	0.94253	GAT		0.333	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		A	145598558	G	A	145598558	3	1	51	1	0	0	0	0	1	0	0	0	13127	1290	45	3	76	3	RBM27	5	145598558	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	5422338	145598558	35316702	25	3191											
NDST1	3340	broad.mit.edu	37	chr5	149922522	149922522	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggccacaactatcacaaAggcatcgactggtgagttgg	13	8	11	9	1	1	1	1	1	0	0	2	2	1	1	1	4	1	2	1	4	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:149922522A>G	ENST00000261797.6	+	10	2461	c.1959A>G	c.(1957-1959)aaA>aaG	p.K653K	NDST1_ENST00000523767.1_Silent_p.K653K|snoU13_ENST00000459561.1_RNA	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	653	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTATCACAAAGGCATCGACT	0.567																																						uc003lsk.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1957-1959)aaA>aaG		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.							172	168	169					5																	149922522		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149922522A>G	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1959A>G	5.37:g.149922522A>G						NDST1_uc011dcj.2_Silent_p.K653K	p.K653K	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	2461	+		all_hematologic(541;0.224)	653			Heparan sulfate N-sulfotransferase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.1959A>G	CCDS34277.1																																																																																				0.567	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		G	149922522	A	G	149922522	2	3	51	1	0	0	0	0	0	0	0	1	10255	69	3	4		4	NDST1	5	149922522	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	4323964	149922522	30992738	26	3192											
POU5F1	5460	broad.mit.edu	37	chr6	31133413	31133413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagggccgcagcttacAcatgttcttgaagctaagct	11	9	10	11	1	1	1	0	1	1	0	1	1	1	1	1	1	5	6	1	1	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31133413A>G	ENST00000259915.8	-	3	664	c.592T>C	c.(592-594)Tgt>Cgt	p.C198R	POU5F1_ENST00000513407.1_Missense_Mutation_p.C2R|POU5F1_ENST00000471529.2_Missense_Mutation_p.C2R|POU5F1_ENST00000441888.3_Missense_Mutation_p.C2R|POU5F1_ENST00000512818.1_Missense_Mutation_p.C2R|POU5F1_ENST00000606567.1_Missense_Mutation_p.C28R	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	198	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CGCAGCTTACACATGTTCTTG	0.547			T	EWSR1	sarcoma																																	uc003nsv.3				Dom	yes		6	6p21.31	5460	T	"POU domain, class 5, transcription factor 1"			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						c.(592-594)Tgt>Cgt		Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.							32	35	34					6																	31133413		1511	2707	4218	SO:0001583	missense	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133413A>G	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.592T>C	6.37:g.31133413A>G	ENSP00000259915:p.Cys198Arg					POU5F1_uc003nsu.3_Missense_Mutation_p.C27R|POU5F1_uc021yuj.1_Missense_Mutation_p.C27R|POU5F1_uc011dnf.1_5'Flank	p.C198R	NM_002701	NP_002692	Q01860	PO5F1_HUMAN			2	646	-			198			POU-specific.		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	c.592T>C	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543094	0.86022	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	D;D;D;D	0.84516	-1.61;-1.86;-1.61;-1.61	5.54	5.54	0.83059	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.64402	D	0.000006	D	0.89022	0.6597	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90671	0.4598	10	0.87932	D	0	.	13.6231	0.62149	1.0:0.0:0.0:0.0	.	198;103	Q01860;D2IYK4	PO5F1_HUMAN;.	R	103;2;198;2;2	ENSP00000425479:C2R;ENSP00000259915:C198R;ENSP00000389359:C2R;ENSP00000425083:C2R	ENSP00000259915:C198R	C	-	1	0	POU5F1	31241392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.273000	0.78527	2.094000	0.63399	0.519000	0.50382	TGT		0.547	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		G	31133413	A	G	31133413	3	3	51	1	0	0	0	0	1	0	0	0	12281	159	6	4	502	4	POU5F1	6	31133413	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		31133413	139981654	27	3193											
NEU1	4758	broad.mit.edu	37	chr6	31829050	31829050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctccaggaaacaccaTcatccttgctccataccaac	11	9	6	15	0	1	0	1	0	0	0	4	1	4	1	5	1	5	2	5	1	3	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31829050T>C	ENST00000375631.4	-	3	659	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	177					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GGAAACACCATCATCCTTGCT	0.532																																						uc003nxq.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(529-531)gAt>gGt		Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	Oseltamivir(DB00198)|Zanamivir(DB00558)						109	100	103					6																	31829050		1511	2709	4220	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31829050T>C	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.530A>G	6.37:g.31829050T>C	ENSP00000364782:p.Asp177Gly						p.D177G	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			2	686	-			177						Missense_Mutation	SNP	ENST00000375631.4	37	c.530A>G	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836655	0.91117	.	.	ENSG00000204386	ENST00000375631	D	0.83992	-1.79	5.7	5.7	0.88788	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.80764	0.994;0.796	D	0.89396	0.3692	10	0.51188	T	0.08	-0.456	13.923	0.63945	0.0:0.0:0.0:1.0	.	177;177	E9PIF4;Q99519	.;NEUR1_HUMAN	G	177	ENSP00000364782:D177G	ENSP00000364782:D177G	D	-	2	0	NEU1	31937029	1.000000	0.71417	0.750000	0.31169	0.995000	0.86356	5.661000	0.68025	2.175000	0.68902	0.533000	0.62120	GAT		0.532	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			C	31829050	T	C	31829050	3	2	51	1	0	0	0	0	1	0	0	0	10341	1435	50	4	733	4	NEU1	6	31829050	Missense_Mutation	SNP	T	TCGA-06-0241-01A-02D-1491-08	695637	31829050	139286017	28	3194											
HIVEP2	3097	broad.mit.edu	37	chr6	143074691	143074691	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccgaggagaggagggAgtgctaggtggaccagatga	13	4	18	6	1	0	3	0	1	0	2	0	8	0	6	2	5	3	1	2	5	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:143074691A>G	ENST00000367604.1	-	9	7533	c.6894T>C	c.(6892-6894)acT>acC	p.T2298T	HIVEP2_ENST00000012134.2_Silent_p.T2298T|HIVEP2_ENST00000367603.2_Silent_p.T2298T|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGAGGGAGTGCTAGGTG	0.527																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.3																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6892-6894)acT>acC		Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.							93	94	94					6																	143074691		2025	4193	6218	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074691A>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6894T>C	6.37:g.143074691A>G							p.T2298T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	7637	-			2298					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.6894T>C	CCDS43510.1																																																																																				0.527	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			G	143074691	A	G	143074691	2	3	51	1	0	0	0	0	0	0	0	1	7187	291	11	4		4	HIVEP2	6	143074691	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	111245641	143074691	28040376	29	3195											
T	6862	broad.mit.edu	37	chr6	166571992	166571992	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggagccccggaagaactgGgcccccagcccgttggacac	8	3	15	15	2	0	1	0	0	0	1	0	4	0	4	5	5	3	1	5	5	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:166571992G>T	ENST00000296946.2	-	9	1587	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	T_ENST00000366871.3_Silent_p.A315A	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	373					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAACTGGGCCCCCAGCC	0.692									Chordoma, Familial Clustering of																													uc003qut.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1120-1122)gcC>gcA		Homo sapiens T, brachyury homolog (mouse) (T), mRNA.							20	27	25					6																	166571992		2202	4298	6500	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571992G>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1119C>A	6.37:g.166571992G>T						T_uc003quu.1_Silent_p.A373A|T_uc003quv.1_Silent_p.A315A	p.A374A	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	7	1408	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	373					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.1122C>A	CCDS5290.1																																																																																				0.692	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		T	166571992	G	T	166571992	2	4	51	1	0	0	0	0	0	0	0	1	15485	1219	43	5		5	T	6	166571992	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	23497301	166571992	4543075	30	3196											
MAGI2	9863	broad.mit.edu	37	chr7	77973153	77973153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcacacttttcacctgCagaaactcatcaggctcgtc	11	10	7	13	1	4	1	4	0	0	1	6	2	4	2	1	2	2	2	1	2	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:77973153C>T	ENST00000354212.4	-	9	1603	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	MAGI2_ENST00000522391.1_Silent_p.L450L|MAGI2_ENST00000536571.1_Silent_p.L282L|MAGI2_ENST00000535697.1_Silent_p.L287L|MAGI2_ENST00000419488.1_Silent_p.L450L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	450	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTCACCTGCAGAAACTCAT	0.453																																						uc003ugx.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1348-1350)ctG>ctA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.							116	104	108					7																	77973153		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973153C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1350G>A	7.37:g.77973153C>T						MAGI2_uc003ugy.3_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	p.L450L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			8	1604	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	450			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1350G>A	CCDS5594.1																																																																																				0.453	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77973153	C	T	77973153	2	4	51	1	0	0	0	0	0	0	0	1	9191	697	25	3		3	MAGI2	7	77973153	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		77973153	81165510	31	3197											
DNAJC2	27000	broad.mit.edu	37	chr7	102953526	102953526	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgttcttctgttgtccaAggggtgaagtctgtatatgg	6	17	12	6	0	4	1	0	1	4	0	5	1	5	1	1	3	0	3	1	3	4	6			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:102953526A>G	ENST00000379263.3	-	16	1909	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	PMPCB_ENST00000249269.4_3'UTR|PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.P500P	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	553	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTGTTGTCCAAGGGGTGAAGT	0.393																																						uc003vbo.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1657-1659)ccT>ccC		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.							180	164	169					7																	102953526		1820	4078	5898	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953526A>G	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1659T>C	7.37:g.102953526A>G						PMPCB_uc003vbl.3_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Silent_p.P178P|DNAJC2_uc010lix.3_Silent_p.P500P|DNAJC2_uc003vbp.3_Silent_p.P178P	p.P553P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN			15	1910	-			553			SANT 2.		A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.1659T>C	CCDS43628.1																																																																																				0.393	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			G	102953526	A	G	102953526	2	3	51	1	0	0	0	0	0	0	0	1	4639	59	3	4		4	DNAJC2	7	102953526	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	24980373	102953526	56185137	32	3198											
RELN	5649	broad.mit.edu	37	chr7	103281043	103281043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaatttgagacatgaCgggccaatataaactgtggg	15	8	12	6	1	0	3	0	2	0	2	0	5	0	3	1	2	2	0	1	2	6	3	rs146749232		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:103281043C>T	ENST00000428762.1	-	17	2175	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	RELN_ENST00000424685.2_Silent_p.P672P|RELN_ENST00000343529.5_Silent_p.P672P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	672	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGACATGACGGGCCAATAT	0.368													C|||	1	0.000199681	0	0	5008	,	,		17976	0.001		0	False		,,,				2504	0				NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2014-2016)ccG>ccA		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	105	96	99		2016,2016	-8.7	0.1	7	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	672/3461,672/3459	103281043	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103281043C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2016G>A	7.37:g.103281043C>T						RELN_uc022ajq.1_Silent_p.P672P|RELN_uc010liz.3_Silent_p.P672P	p.P672P	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	16	2176	-			672			EGF-like 1.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.2016G>A	CCDS47680.1																																																																																				0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103281043	C	T	103281043	2	4	51	1	0	0	0	0	0	0	0	1	13220	523	19	1		1	RELN	7	103281043	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	327517	103281043	55857620	33	3199											
CNOT4	4850	broad.mit.edu	37	chr7	135047676	135047676	+	Frame_Shift_Del	DEL	G	G	-																															gaactctgtagtaaatctgtGggggttttgctggggggtct																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047676delG	ENST00000451834.1	-	12	2377	c.2094delC	c.(2092-2094)cccfs	p.P698fs	CNOT4_ENST00000541284.1_Frame_Shift_Del_p.P701fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P627fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P630fs|CNOT4_ENST00000473470.1_5'Flank			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTAAATCTGTGGGGGTTTTGC	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(2101-2103)cccfs		Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.							202	211	208					7																	135047676		1853	4093	5946	SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047676delG	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2094delC	7.37:g.135047676delG	ENSP00000388491:p.Pro698fs					CNOT4_uc011kpz.2_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.P630fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.P627fs	p.P701fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN			11	2434	-			370					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Del	DEL	ENST00000451834.1	37	c.2103delC	CCDS55167.1																																																																																				0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		-	135047676	G	-	135047676	7	5	51	1	0	1	0	1	0	0	0	0	3621	1335	47	0	42	0	CNOT4	7	135047676	Frame_Shift_Del	DEL	G	TCGA-06-0241-01A-02D-1491-08	31766633	135047676	24090987	34	3200	3	2									
CNOT4	4850	broad.mit.edu	37	chr7	135047681	135047681	+	Frame_Shift_Del	DEL	T	T	-																															ctgtagtaaatctgtgggggTtttgctggggggtctgaagg																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047681delT	ENST00000451834.1	-	12	2372	c.2089delA	c.(2089-2091)accfs	p.T697fs	CNOT4_ENST00000541284.1_Frame_Shift_Del_p.T700fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.T626fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.T629fs|CNOT4_ENST00000473470.1_5'Flank			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGTGGGGGTTTTGCTGGGG	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(2098-2100)accfs		Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.							197	206	203					7																	135047681		1853	4093	5946	SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047681delT	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2089delA	7.37:g.135047681delT	ENSP00000388491:p.Thr697fs					CNOT4_uc011kpz.2_Frame_Shift_Del_p.T697fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.T629fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.T626fs	p.T700fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN			11	2429	-			369					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Del	DEL	ENST00000451834.1	37	c.2098delA	CCDS55167.1																																																																																				0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		-	135047681	T	-	135047681	7	5	51	1	0	1	0	1	0	0	0	0	3621	1725	60	0	47	0	CNOT4	7	135047681	Frame_Shift_Del	DEL	T	TCGA-06-0241-01A-02D-1491-08	5	135047681	24090982	35	3201	3	2									
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	11	12	8	10	1	2	1	0	1	2	0	5	2	3	2	2	2	2	2	2	2	5	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433																																						uc003xnz.2																			2	Substitution - Missense(2)	p.R43H(4)	kidney(1)|endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(127-129)cGc>cAc		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.							143	134	137					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		1	1067	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		A	41456786	G	A	41456786	3	1	51	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		41456786	104907236	36	3202											
FAM83H	286077	broad.mit.edu	37	chr8	144808129	144808129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccaggatcttgggcaCgaacttgcccaccttgctgt	6	10	11	14	2	1	0	0	0	1	0	1	2	1	1	3	2	4	2	3	2	1	3	rs369901205		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:144808129C>T	ENST00000388913.3	-	5	3627	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1168					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCTTGGGCACGAACTTGCCC	0.647																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3502-3504)Gtg>Atg		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							26	29	28					8																	144808129		2020	4168	6188	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808129C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3502G>A	8.37:g.144808129C>T	ENSP00000373565:p.Val1168Met						p.V1168M	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	3571	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1168					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3502G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	2.410	-0.335658	0.05278	.	.	ENSG00000180921	ENST00000388913	T	0.13778	2.56	5.17	2.79	0.32731	.	3.707800	0.02395	N	0.080093	T	0.06005	0.0156	N	0.02916	-0.46	0.26031	N	0.981737	B	0.10296	0.003	B	0.04013	0.001	T	0.35649	-0.9780	10	0.02654	T	1	.	7.7926	0.29129	0.0:0.1644:0.0:0.8356	.	1168	Q6ZRV2	FA83H_HUMAN	M	1168	ENSP00000373565:V1168M	ENSP00000373565:V1168M	V	-	1	0	FAM83H	144880117	1.000000	0.71417	0.986000	0.45419	0.808000	0.45660	1.010000	0.29898	0.299000	0.22661	0.556000	0.70494	GTG		0.647	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144808129	C	T	144808129	3	4	51	1	0	0	0	0	1	0	0	0	5640	536	19	1	41	1	FAM83H	8	144808129	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	103351343	144808129	1555893	37	3203											
KIAA1432	57589	broad.mit.edu	37	chr9	5765489	5765489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactagaacaaggcaagtggGacctttgtcgacacatgatt	13	9	10	9	1	0	2	0	1	0	1	1	4	0	3	1	2	1	1	1	2	4	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:5765489G>A	ENST00000414202.2	+	20	3108	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N	KIAA1432_ENST00000381532.2_Missense_Mutation_p.D894N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D857N|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D894N|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D973N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCAAGTGGGACCTTTGTCG	0.448																																						uc003zjl.4																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2806-2808)Gac>Aac		Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.							188	172	177					9																	5765489		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765489G>A																												ENST00000414202.2:c.2917G>A	9.37:g.5765489G>A	ENSP00000416696:p.Asp973Asn					KIAA1432_uc003zjh.3_Missense_Mutation_p.D894N|KIAA1432_uc003zji.3_Missense_Mutation_p.D894N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N	p.D936N	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2997	+		Acute lymphoblastic leukemia(23;0.154)	973						Missense_Mutation	SNP	ENST00000414202.2	37	c.2806G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.083250|4.083250	0.76642|0.76642	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Ribosome control protein 1 (1);|.	0.044255|.	0.85682|.	D|.	0.000000|.	T|T	0.60431|0.60431	0.2268|0.2268	L|L	0.28400|0.28400	0.85|0.85	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.65815|.	0.993;0.964;0.995;0.944|.	P;P;P;P|.	0.60012|.	0.824;0.815;0.867;0.647|.	T|T	0.50882|0.50882	-0.8775|-0.8775	9|5	0.40728|.	T|.	0.16|.	-12.3609|-12.3609	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	857;894;973;973|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	N|E	973;973;894;894;857|864	.|.	ENSP00000251879:D973N|.	D|G	+|+	1|2	0|0	KIAA1432|KIAA1432	5755489|5755489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.586000|0.586000	0.36452|0.36452	9.476000|9.476000	0.97823|0.97823	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAC|GGA		0.448	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			A	5765489	G	A	5765489	3	1	51	1	0	0	0	0	1	0	0	0	8233	1174	41	3	2754	3	KIAA1432	9	5765489	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		5765489	135447942	38	3204											
TESK1	7016	broad.mit.edu	37	chr9	35608190	35608190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgcctgctttccgaactCtggtgggggatgactgccca	6	11	13	11	1	1	1	0	1	1	0	2	3	2	2	3	3	4	1	3	3	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:35608190C>G	ENST00000336395.5	+	8	1079	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCGAACTCTGGTGGGGGA	0.597																																						uc003zxa.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(829-831)Ctg>Gtg		Homo sapiens testis-specific kinase 1 (TESK1), mRNA.							129	100	110					9																	35608190		2203	4300	6503	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608190C>G	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.829C>G	9.37:g.35608190C>G	ENSP00000338127:p.Leu277Val					TESK1_uc010mks.3_Missense_Mutation_p.L117V	p.L277V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	1165	+			277			Protein kinase.		Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.829C>G	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262922	0.39995	.	.	ENSG00000107140	ENST00000336395	T	0.34667	1.35	5.29	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32287	N	0.006319	T	0.27765	0.0683	L	0.28014	0.82	0.41121	D	0.985813	P;B	0.37370	0.592;0.392	B;B	0.41174	0.349;0.349	T	0.10109	-1.0644	10	0.66056	D	0.02	-8.025	7.3148	0.26495	0.1653:0.7471:0.0:0.0876	.	195;277	B4DQQ3;Q15569	.;TESK1_HUMAN	V	277	ENSP00000338127:L277V	ENSP00000338127:L277V	L	+	1	2	TESK1	35598190	0.966000	0.33281	0.977000	0.42913	0.916000	0.54674	2.310000	0.43708	1.183000	0.42943	0.561000	0.74099	CTG		0.597	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		G	35608190	C	G	35608190	3	3	51	1	0	0	0	0	1	0	0	0	15764	912	32	5	859	5	TESK1	9	35608190	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	29842701	35608190	105605241	39	3205											
OR13C8	138802	broad.mit.edu	37	chr9	107332367	107332367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggatgtaaaggctgctGtcaaaaacatactgtgtagg	15	9	11	6	0	1	0	1	0	0	0	1	1	1	1	0	3	3	4	0	3	7	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:107332367G>T	ENST00000335040.1	+	1	919	c.919G>T	c.(919-921)Gtc>Ttc	p.V307F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGCTGCTGTCAAAAACAT	0.373																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(919-921)Gtc>Ttc		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							53	54	54					9																	107332367		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332367G>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.919G>T	9.37:g.107332367G>T	ENSP00000334068:p.Val307Phe						p.V307F	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			0	919	+			307					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.919G>T	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043999	0.36085	.	.	ENSG00000186943	ENST00000335040	T	0.35605	1.3	4.9	-1.84	0.07809	.	0.402324	0.20939	N	0.082955	T	0.17492	0.0420	N	0.12443	0.215	0.09310	N	1	P	0.42010	0.768	B	0.44044	0.439	T	0.17531	-1.0366	10	0.29301	T	0.29	.	3.6798	0.08306	0.1452:0.3579:0.3746:0.1224	.	307	Q8NGS7	O13C8_HUMAN	F	307	ENSP00000334068:V307F	ENSP00000334068:V307F	V	+	1	0	OR13C8	106372188	0.000000	0.05858	0.379000	0.26080	0.764000	0.43329	-1.141000	0.03207	-0.434000	0.07275	0.561000	0.74099	GTC		0.373	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			T	107332367	G	T	107332367	3	4	51	1	0	0	0	0	1	0	0	0	10938	1377	48	5	921	5	OR13C8	9	107332367	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	71724177	107332367	33881064	40	3206											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	14	4	12	11	2	1	0	1	0	0	0	1	2	1	2	3	4	2	1	3	4	5	0	rs571576756		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0	0	5008	,	,		16284	0		0.001	False		,,,				2504	0					uc010mza.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1147-1149)cGc>cAc		Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135	149	144					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_uc004bzm.3_Missense_Mutation_p.R307H|ASS1_uc004bzn.3_Missense_Mutation_p.R307H	p.R383H	NM_054012	NP_446464	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	12	1656	+			307					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.1148G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		A	133364801	G	A	133364801	3	1	51	1	0	0	0	0	1	0	0	0	1061	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	26032434	133364801	7848630	41	3207											
SVIL	6840	broad.mit.edu	37	chr10	29839816	29839816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtccttggattcaccGgcacaggtcctgagccccat	8	9	10	14	1	1	1	1	1	0	0	3	2	3	2	5	3	1	2	5	3	1	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:29839816G>A	ENST00000355867.4	-	6	1289	c.537C>T	c.(535-537)gcC>gcT	p.A179A	SVIL_ENST00000375400.3_Silent_p.A179A|SVIL_ENST00000375398.2_Silent_p.A179A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	179					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATTCACCGGCACAGGTCC	0.557																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(535-537)gcC>gcT		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							86	87	87					10																	29839816		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29839816G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.537C>T	10.37:g.29839816G>A						SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	p.A179A	NM_021738	NP_068506	O95425	SVIL_HUMAN			5	1290	-		Breast(68;0.103)	179					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.537C>T	CCDS7164.1																																																																																				0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29839816	G	A	29839816	2	1	51	1	0	0	0	0	0	0	0	1	15418	1103	39	2		2	SVIL	10	29839816	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08		29839816	105694931	42	3208											
MUC5B	727897	broad.mit.edu	37	chr11	1251288	1251288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgtgccctggcacctGctctgtgcagggcggggccc	2	7	15	17	2	1	0	0	0	1	0	1	0	1	0	5	4	4	3	5	4	0	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:1251288G>A	ENST00000529681.1	+	11	1332	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.C428Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	425	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGCACCTGCTCTGTGCAG	0.652																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1273-1275)tGc>tAc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							64	65	65					11																	1251288		1961	4138	6099	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1251288G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1274G>A	11.37:g.1251288G>A	ENSP00000436812:p.Cys425Tyr					MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.C425Y	p.C425Y	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	10	1333	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	425			VWFD 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.1274G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494459	0.26774	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.83506	-1.73;-1.73	4.26	4.26	0.50523	von Willebrand factor, type D domain (3);VWC out (1);	.	.	.	.	D	0.94941	0.8364	H	0.98701	4.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97515	1.0069	9	0.87932	D	0	.	16.7017	0.85351	0.0:0.0:1.0:0.0	.	425;1084;428	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Y	425;428;426;461	ENSP00000436812:C425Y;ENSP00000415793:C428Y	ENSP00000343037:C426Y	C	+	2	0	MUC5B	1207864	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	9.656000	0.98514	1.914000	0.55421	0.313000	0.20887	TGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1251288	G	A	1251288	3	1	51	1	0	0	0	0	1	0	0	0	9979	1319	46	3	1325	3	MUC5B	11	1251288	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		1251288	133755228	43	3209											
NAV2	89797	broad.mit.edu	37	chr11	20099593	20099593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgctaaagaaacagaacGcagctgcccaggctgccatt	13	6	10	12	1	0	2	0	0	0	2	0	2	0	2	2	1	7	5	2	1	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:20099593G>A	ENST00000396087.3	+	26	5389	c.5290G>A	c.(5290-5292)Gca>Aca	p.A1764T	NAV2_ENST00000349880.4_Missense_Mutation_p.A1708T|NAV2_ENST00000311043.8_Missense_Mutation_p.A772T|NAV2_ENST00000540292.1_Missense_Mutation_p.A1695T|NAV2_ENST00000527559.2_Missense_Mutation_p.A1693T|NAV2_ENST00000396085.1_Missense_Mutation_p.A1708T|NAV2_ENST00000360655.4_Missense_Mutation_p.A1644T|NAV2_ENST00000533917.1_Missense_Mutation_p.A772T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1764					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACAGAACGCAGCTGCCCA	0.433																																						uc010rdm.2																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5290-5292)Gca>Aca		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							50	46	48					11																	20099593		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20099593G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5290G>A	11.37:g.20099593G>A	ENSP00000379396:p.Ala1764Thr					NAV2_uc001mpp.3_Missense_Mutation_p.A1644T|NAV2_uc001mpr.4_Missense_Mutation_p.A1708T|NAV2_uc021qew.1_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.3_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.3_Missense_Mutation_p.A353T|NAV2_uc001mpu.3_Missense_Mutation_p.A146T	p.A1764T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			25	5651	+			1764					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5290G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348218	0.82132	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	D	0.94105	0.8110	N	0.20766	0.605	0.80722	D	1	D;D;D;D;P;D	0.89917	0.99;1.0;1.0;1.0;0.733;0.978	P;D;D;D;B;P	0.85130	0.579;0.986;0.949;0.997;0.163;0.772	D	0.92608	0.6097	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1708;1764;772;757;1708;1644	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	T	1644;1708;1708;1764;1693;1695;772;757;772;757	ENSP00000353871:A1644T;ENSP00000379394:A1708T;ENSP00000309577:A1708T;ENSP00000379396:A1764T;ENSP00000435395:A1693T;ENSP00000443489:A1695T;ENSP00000437316:A772T;ENSP00000437136:A757T;ENSP00000312169:A772T	.	A	+	1	0	NAV2	20056169	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.954000	0.87848	2.941000	0.99782	0.655000	0.94253	GCA		0.433	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	20099593	G	A	20099593	3	1	51	1	0	0	0	0	1	0	0	0	10184	1087	38	1	5325	1	NAV2	11	20099593	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	18848305	20099593	114906923	44	3210											
NOX4	50507	broad.mit.edu	37	chr11	89073272	89073272	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatctgcaaaccaacggaAggactggatatctctgcata	15	9	8	9	1	2	0	0	0	2	0	3	3	2	3	1	3	4	2	1	3	7	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:89073272A>C	ENST00000263317.4	-	15	1643	c.1405T>G	c.(1405-1407)Ttc>Gtc	p.F469V	NOX4_ENST00000542487.1_Missense_Mutation_p.F445V|NOX4_ENST00000527956.1_Missense_Mutation_p.F445V|NOX4_ENST00000535633.1_Missense_Mutation_p.F445V|NOX4_ENST00000413594.2_Missense_Mutation_p.F490V|NOX4_ENST00000528341.1_Missense_Mutation_p.F444V|NOX4_ENST00000424319.1_Missense_Mutation_p.F445V|NOX4_ENST00000532825.1_Missense_Mutation_p.F405V|NOX4_ENST00000534731.1_Missense_Mutation_p.F429V|NOX4_ENST00000531342.1_Missense_Mutation_p.F122V|NOX4_ENST00000525196.1_Missense_Mutation_p.F233V|NOX4_ENST00000343727.5_Missense_Mutation_p.F445V|NOX4_ENST00000375979.3_Missense_Mutation_p.F162V|NOX4_ENST00000527626.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	469	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACCAACGGAAGGACTGGATA	0.328																																						uc001pct.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1405-1407)Ttc>Gtc		Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.							137	135	136					11																	89073272		2201	4298	6499	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073272A>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1405T>G	11.37:g.89073272A>C	ENSP00000263317:p.Phe469Val					NOX4_uc009yvr.3_Missense_Mutation_p.F444V|NOX4_uc001pcu.3_Missense_Mutation_p.F395V|NOX4_uc001pcw.3_Missense_Mutation_p.F162V|NOX4_uc001pcx.3_Missense_Mutation_p.F122V|NOX4_uc001pcv.3_Missense_Mutation_p.F429V|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Missense_Mutation_p.F233V|NOX4_uc010rtv.2_Missense_Mutation_p.F405V|NOX4_uc009yvq.3_Missense_Mutation_p.F445V	p.F469V	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN			14	1644	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	469			Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1405T>G	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112712	0.77210	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.34	5.34	0.76211	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	M	0.78456	2.415	0.58432	D	0.999997	D;D;D;D;P;D;P	0.89917	0.987;1.0;1.0;0.989;0.708;1.0;0.861	D;D;D;D;B;D;P	0.97110	0.952;1.0;0.998;0.969;0.425;0.996;0.616	D	0.97007	0.9733	9	.	.	.	-12.9072	14.968	0.71210	1.0:0.0:0.0:0.0	.	405;444;233;122;162;429;469	E9PMY6;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	V	445;445;445;429;233;469;405;445;445;444;490;122;162	ENSP00000412446:F445V;ENSP00000440172:F445V;ENSP00000344747:F445V;ENSP00000436892:F429V;ENSP00000436716:F233V;ENSP00000263317:F469V;ENSP00000434924:F405V;ENSP00000433797:F445V;ENSP00000439373:F445V;ENSP00000436970:F444V;ENSP00000405705:F490V;ENSP00000435039:F122V;ENSP00000365146:F162V	.	F	-	1	0	NOX4	88712920	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	8.712000	0.91403	2.022000	0.59522	0.377000	0.23210	TTC		0.328	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		C	89073272	A	C	89073272	3	2	51	1	0	0	0	0	1	0	0	0	10558	72	3	5	347	5	NOX4	11	89073272	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	68973679	89073272	45933244	45	3211											
LRP1	4035	broad.mit.edu	37	chr12	57581183	57581183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcgagcgtgagaccgtCatcactatgtctggagatga	9	10	12	10	3	3	3	2	2	1	2	4	6	3	3	2	1	1	0	2	1	1	2	rs372464430		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:57581183C>T	ENST00000243077.3	+	42	7441	c.6975C>T	c.(6973-6975)gtC>gtT	p.V2325V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2325					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGAGACCGTCATCACTATGT	0.612																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6973-6975)gtC>gtT		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C		0,4406		0,0,2203	79	70	73		6975	0.6	1	12		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2325/4545	57581183	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581183C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6975C>T	12.37:g.57581183C>T							p.V2325V	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7441	+			2325					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.6975C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.277084	0.10403	0.0	1.16E-4	ENSG00000123384	ENST00000554118	.	.	.	4.54	0.642	0.17765	.	.	.	.	.	T	0.55097	0.1899	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45440	-0.9261	4	.	.	.	.	8.2141	0.31501	0.0:0.5835:0.0:0.4165	.	.	.	.	L	11	.	.	S	+	2	0	LRP1	55867450	0.757000	0.28394	0.966000	0.40874	0.454000	0.32378	-0.188000	0.09642	0.015000	0.14971	-0.140000	0.14226	TCA		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57581183	C	T	57581183	2	4	51	1	0	0	0	0	0	0	0	1	8951	813	29	3		3	LRP1	12	57581183	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		57581183	76270712	46	3212											
PCDH17	27253	broad.mit.edu	37	chr13	58207302	58207303	+	Frame_Shift_Ins	INS	-	-	A																															ggaccgcgagcaacagaatcINSaccatacgctcgtgctgact																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr13:58207302_58207303insA	ENST00000377918.3	+	1	648_649	c.622_623insA	c.(622-624)cacfs	p.H208fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACAGAATCACCATACGCTC	0.599																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(622-624)cacfs		Homo sapiens protocadherin 17 (PCDH17), mRNA.																																				SO:0001589	frameshift_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207302_58207303insA	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.623dupA	13.37:g.58207303_58207303dupA	ENSP00000367151:p.His208fs					PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs	p.H208fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	0	1514_1515	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	208			Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Frame_Shift_Ins	INS	ENST00000377918.3	37	c.622_623insA	CCDS31986.1																																																																																				0.599	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58207303	-	A	58207302	7	5	51	1	0	1	1	0	0	0	0	0	11512	826	29	0	624	0	PCDH17	13	58207302	Frame_Shift_Ins	INS	-	TCGA-06-0241-01A-02D-1491-08		58207302	56962576	47	3213											
MBIP	51562	broad.mit.edu	37	chr14	36789728	36789728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctctcgggagaggttggGtctgcatcttcgctccaggt	5	11	13	12	2	3	1	0	0	3	1	6	2	4	1	2	4	1	3	2	4	0	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr14:36789728G>T	ENST00000416007.4	-	1	154	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	MBIP_ENST00000318473.7_Missense_Mutation_p.P23T|MBIP_ENST00000359527.7_Missense_Mutation_p.P23T	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	23					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GAGAGGTTGGGTCTGCATCTT	0.587																																						uc001wtm.2																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(67-69)Ccc>Acc		Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.							93	77	83					14																	36789728		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789728G>T	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.67C>A	14.37:g.36789728G>T	ENSP00000399718:p.Pro23Thr					MBIP_uc001wto.2_Missense_Mutation_p.P23T|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.P23T	p.P23T	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	0	155	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		23					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.67C>A	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.856630|2.856630	0.51376|0.51376	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298|ENST00000553977;ENST00000553549	T;T;T|.	0.36157|.	1.33;1.34;1.27|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.328711|.	0.32970|.	N|.	0.005437|.	T|T	0.52709|0.52709	0.1751|0.1751	L|L	0.36672|0.36672	1.1|1.1	0.34735|0.34735	D|D	0.730176|0.730176	P;P;P|.	0.44429|.	0.835;0.59;0.835|.	P;B;P|.	0.46208|.	0.507;0.407;0.507|.	T|T	0.58858|0.58858	-0.7562|-0.7562	10|5	0.44086|.	T|.	0.13|.	-10.7357|-10.7357	14.9919|14.9919	0.71396|0.71396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;23;23|.	Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;MBIP1_HUMAN|.	T|N	23|19;3	ENSP00000399718:P23T;ENSP00000324444:P23T;ENSP00000352517:P23T|.	ENSP00000324444:P23T|.	P|T	-|-	1|2	0|0	MBIP|MBIP	35859479|35859479	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.095000|0.095000	0.18619|0.18619	4.217000|4.217000	0.58547|0.58547	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.587	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		T	36789728	G	T	36789728	3	4	51	1	0	0	0	0	1	0	0	0	9349	1261	44	5	1003	5	MBIP	14	36789728	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		36789728	70559812	48	3214											
FBN1	2200	broad.mit.edu	37	chr15	48787734	48787734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaataaaagagcctgggCtgttcttgcagactccatta	13	10	8	10	0	1	2	0	0	1	2	2	2	2	2	2	1	2	3	2	1	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:48787734C>T	ENST00000316623.5	-	21	2926	c.2471G>A	c.(2470-2472)aGc>aAc	p.S824N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	824	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGCCTGGGCTGTTCTTGCA	0.368																																						uc001zwx.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2470-2472)aGc>aAc		Homo sapiens fibrillin 1 (FBN1), mRNA.							186	202	197					15																	48787734		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787734C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2471G>A	15.37:g.48787734C>T	ENSP00000325527:p.Ser824Asn						p.S824N	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2866	-		all_lung(180;0.00279)	824			EGF-like 13; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2471G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141934	0.21205	.	.	ENSG00000166147	ENST00000316623	D	0.87571	-2.27	5.87	3.9	0.45041	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.173798	0.64402	D	0.000006	T	0.75882	0.3910	L	0.27053	0.805	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.66559	-0.5893	10	0.12430	T	0.62	.	9.1487	0.36948	0.1305:0.4519:0.4176:0.0	.	824	P35555	FBN1_HUMAN	N	824	ENSP00000325527:S824N	ENSP00000325527:S824N	S	-	2	0	FBN1	46575026	0.803000	0.28956	1.000000	0.80357	0.998000	0.95712	0.809000	0.27168	1.444000	0.47605	0.555000	0.69702	AGC		0.368	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48787734	C	T	48787734	3	4	51	1	0	0	0	0	1	0	0	0	5702	797	28	3	6328	3	FBN1	15	48787734	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		48787734	53743658	49	3215											
AKAP13	11214	broad.mit.edu	37	chr15	86123972	86123972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaggggaacactgaCtcttccctgcaaagtgtggg	12	9	11	9	0	2	1	1	1	1	0	3	2	3	2	1	3	2	1	1	3	5	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:86123972C>T	ENST00000394518.2	+	7	2768	c.2673C>T	c.(2671-2673)gaC>gaT	p.D891D	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.D891D	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	891					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAACACTGACTCTTCCCTGC	0.512																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(2671-2673)gaC>gaT		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.							71	70	70					15																	86123972		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123972C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2673C>T	15.37:g.86123972C>T						AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	p.D891D	NM_007200	NP_009131	Q12802	AKP13_HUMAN			6	2843	+			891					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.2673C>T	CCDS32319.1																																																																																				0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86123972	C	T	86123972	2	4	51	1	0	0	0	0	0	0	0	1	449	564	20	3		3	AKAP13	15	86123972	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	37336238	86123972	16407420	50	3216											
FANCI	55215	broad.mit.edu	37	chr15	89859631	89859631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttccccttctagggcActgcatcagagcatggggga	8	11	11	11	0	3	1	1	0	2	1	4	2	4	2	2	3	2	3	2	3	1	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:89859631A>G	ENST00000310775.7	+	38	4014	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	FANCI_ENST00000300027.8_Missense_Mutation_p.T1250A|FANCI_ENST00000566615.1_3'UTR|POLG_ENST00000268124.5_3'UTR|POLG_ENST00000442287.2_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1310					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTTCTAGGGCACTGCATCAGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3928-3930)Act>Gct	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.							56	54	55					15																	89859631		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89859631A>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3928A>G	15.37:g.89859631A>G	ENSP00000310842:p.Thr1310Ala					FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	p.T1310A	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			37	4018	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1310					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3928A>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730488	0.30684	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	T;T	0.69175	-0.38;-0.37	5.76	2.06	0.26882	.	0.579894	0.18314	N	0.145005	T	0.51295	0.1666	L	0.54323	1.7	0.29654	N	0.843754	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.38045	-0.9679	10	0.08599	T	0.76	-3.6577	4.5989	0.12343	0.6179:0.0:0.2351:0.147	.	1310;1249;1250	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	A	1250;1310	ENSP00000300027:T1250A;ENSP00000310842:T1310A	ENSP00000300027:T1250A	T	+	1	0	FANCI	87660635	0.000000	0.05858	0.993000	0.49108	0.762000	0.43233	-0.053000	0.11846	0.425000	0.26087	0.533000	0.62120	ACT		0.398	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		G	89859631	A	G	89859631	3	3	51	1	0	0	0	0	1	0	0	0	5669	159	6	4	4074	4	FANCI	15	89859631	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	3735659	89859631	12671761	51	3217											
ITGAM	3684	broad.mit.edu	37	chr16	31308885	31308885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggacgtggacagcaaCggcagcaccgacctggtcct	8	6	13	14	4	0	0	0	0	0	0	2	3	2	2	4	4	3	3	4	4	1	0	rs377233362		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:31308885C>T	ENST00000287497.8	+	13	1482	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ITGAM_ENST00000544665.3_Silent_p.N469N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	469					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGACAGCAACGGCAGCACCG	0.637																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1405-1407)aaC>aaT		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.		T	,	0,4386		0,0,2193	101	111	107		1407,1407	-4.9	0	16		107	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,	469/1153,469/1154	31308885	1,12983	2193	4299	6492	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308885C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1407C>T	16.37:g.31308885C>T						ITGAM_uc002ebq.3_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.3_5'UTR	p.N469N	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			12	1505	+			469					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1407C>T	CCDS45470.1																																																																																				0.637	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31308885	C	T	31308885	2	4	51	1	0	0	0	0	0	0	0	1	7887	535	19	1		1	ITGAM	16	31308885	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		31308885	59045868	52	3218											
NOL3	8996	broad.mit.edu	37	chr16	67208778	67208778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaggctgaagcagaaccaGagccggaactggagccagaa	14	2	14	11	2	0	4	0	1	0	3	0	7	0	6	4	3	5	2	4	3	4	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67208778G>A	ENST00000568146.1	+	3	593	c.540G>A	c.(538-540)caG>caA	p.Q180Q	NOL3_ENST00000564053.1_Missense_Mutation_p.E246K|NOL3_ENST00000432069.2_Missense_Mutation_p.E184K|NOL3_ENST00000268605.7_Missense_Mutation_p.E184K|KIAA0895L_ENST00000563831.2_5'Flank			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	180					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcagaaccagagccggaact	0.642																																						uc010vjd.2																			0				ovary(1)	1						c.(538-540)caG>caA		Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.							27	38	35					16																	67208778		2079	4248	6327	SO:0001819	synonymous_variant	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208778G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.540G>A	16.37:g.67208778G>A						NOL3_uc010vjc.2_Missense_Mutation_p.E184K|NOL3_uc002erp.3_Missense_Mutation_p.E184K	p.Q180Q	NM_001185057	NP_001171986	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	733	+		Ovarian(137;0.192)	180					B4DFL0|O60937	Silent	SNP	ENST00000568146.1	37	c.540G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.271428	0.80469	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.78126	-1.15;-1.15	4.81	4.81	0.61882	.	5.286660	0.00682	N	0.000687	D	0.86456	0.5937	.	.	.	0.34885	D	0.74491	D	0.67145	0.996	P	0.57679	0.825	T	0.74426	-0.3669	9	0.52906	T	0.07	-6.8523	13.7116	0.62672	0.0:0.0:1.0:0.0	.	246	B4DFL0	.	K	184	ENSP00000399831:E184K;ENSP00000268605:E184K	ENSP00000268605:E184K	E	+	1	0	NOL3	65766279	0.091000	0.21658	0.868000	0.34077	0.263000	0.26337	1.883000	0.39658	2.371000	0.80710	0.457000	0.33378	GAG		0.642	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			A	67208778	G	A	67208778	2	1	51	1	0	0	0	0	0	0	0	1	10523	943	33	3		3	NOL3	16	67208778	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	35899893	67208778	23145975	53	3219											
KCTD19	146212	broad.mit.edu	37	chr16	67337179	67337179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagcagtagtgcacCtcctcttctgtgtctaacag	9	10	11	11	0	3	0	0	0	3	0	4	1	4	1	2	2	3	4	2	2	3	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67337179C>T	ENST00000304372.5	-	4	568	c.513G>A	c.(511-513)gaG>gaA	p.E171E	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	171					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTAGTGCACCTCCTCTTCTG	0.567																																						uc002esu.2																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(511-513)gaG>gaA		Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.							92	93	93					16																	67337179		2085	4218	6303	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67337179C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.513G>A	16.37:g.67337179C>T						KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	p.E171E	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	3	564	-		Ovarian(137;0.192)	171					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.513G>A	CCDS42179.1																																																																																				0.567	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		T	67337179	C	T	67337179	2	4	51	1	0	0	0	0	0	0	0	1	8106	680	24	3		3	KCTD19	16	67337179	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	128401	67337179	23017574	54	3220											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	51	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		7577538	73617672	55	3221											
THEG	51298	broad.mit.edu	37	chr19	367156	367156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagggtggctggggccttCggctttgacaactggaggat	8	9	17	7	1	0	2	0	1	0	1	1	4	0	4	1	7	1	2	1	7	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:367156C>T	ENST00000342640.4	-	7	864	c.822G>A	c.(820-822)ccG>ccA	p.P274P	THEG_ENST00000346878.2_Silent_p.P250P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	274					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGCCTTCGGCTTTGACA	0.572																																						uc002lol.3																			0		p.K273T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(820-822)ccG>ccA		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							106	108	107					19																	367156		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:367156C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.822G>A	19.37:g.367156C>T						THEG_uc002lom.3_Silent_p.P250P	p.P274P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	865	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	274					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.822G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585484	0.03827	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.32	-1.41	0.08941	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.23101	N	0.998292	.	.	.	.	.	.	T	0.36578	-0.9742	5	0.87932	D	0	1.252	1.1562	0.01797	0.21:0.3264:0.2965:0.1671	.	.	.	.	Q	52	.	ENSP00000431699:R52Q	R	-	2	0	THEG	318156	0.916000	0.31088	0.087000	0.20705	0.006000	0.05464	0.645000	0.24782	-0.410000	0.07542	-2.419000	0.00218	CGA		0.572	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			T	367156	C	T	367156	2	4	51	1	0	0	0	0	0	0	0	1	15854	871	31	2		2	THEG	19	367156	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		367156	58761827	56	3222											
ELSPBP1	64100	broad.mit.edu	37	chr19	48511941	48511941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgacccgatggtccaGttacctgttgggatggacaa	11	9	12	9	1	0	2	0	1	0	1	1	5	1	4	3	3	1	2	3	3	3	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:48511941G>C	ENST00000339841.2	+	2	195	c.17G>C	c.(16-18)aGt>aCt	p.S6T	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S6T	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	6					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGATGGTCCAGTTACCTGTTG	0.468																																						uc002pht.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(16-18)aGt>aCt		Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.							113	86	95					19																	48511941		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48511941G>C	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.17G>C	19.37:g.48511941G>C	ENSP00000340660:p.Ser6Thr						p.S6T	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	1	195	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	6					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.17G>C	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	g	11.39	1.625538	0.28889	.	.	ENSG00000169393	ENST00000339841	T	0.33654	1.4	2.41	1.32	0.21799	.	0.583964	0.14391	N	0.322538	T	0.25005	0.0607	L	0.44542	1.39	0.09310	N	0.999994	B	0.14438	0.01	B	0.09377	0.004	T	0.21861	-1.0233	10	0.17832	T	0.49	.	6.9224	0.24395	0.0:0.2895:0.7105:0.0	.	6	Q96BH3	ESPB1_HUMAN	T	6	ENSP00000340660:S6T	ENSP00000340660:S6T	S	+	2	0	ELSPBP1	53203753	0.990000	0.36364	0.906000	0.35671	0.667000	0.39255	1.179000	0.31993	0.547000	0.28938	0.509000	0.49947	AGT		0.468	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			C	48511941	G	C	48511941	3	2	51	1	0	0	0	0	1	0	0	0	5083	1029	36	5	19	5	ELSPBP1	19	48511941	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	48144785	48511941	10617042	57	3223											
TNNT1	7138	broad.mit.edu	37	chr19	55648471	55648471	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccccacagcacctacCggagctgttcctcccccatg	7	6	8	20	1	0	0	0	0	0	0	2	2	2	1	8	1	4	3	8	1	1	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:55648471C>T	ENST00000588981.1	-	11	815	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	TNNT1_ENST00000536926.1_Splice_Site_p.R193Q|TNNT1_ENST00000587758.1_Splice_Site_p.R193Q|TNNT1_ENST00000291901.8_Splice_Site_p.R204Q|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000585321.2_Splice_Site_p.R134Q|TNNT1_ENST00000356783.5_Splice_Site_p.R193Q|TNNT1_ENST00000588426.1_Splice_Site_p.R101Q|TNNT1_ENST00000587465.2_Splice_Site_p.R134Q	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	204					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCACCTACCGGAGCTGTTC	0.622																																						uc002qjb.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.e11+1		Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.							46	41	42					19																	55648471		2203	4300	6503	SO:0001630	splice_region_variant	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55648471C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.611+1G>A	19.37:g.55648471C>T						TNNT1_uc002qjc.4_Splice_Site_p.R204_splice|TNNT1_uc002qje.4_Splice_Site_p.R193_splice|TNNT1_uc002qjd.4_Splice_Site_p.R193_splice	p.R204_splice	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	11	700	-			204					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.611_splice	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452710	0.63290	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693	D;D;D	0.96073	-3.9;-3.9;-3.9	3.62	3.62	0.41486	.	.	.	.	.	D	0.96574	0.8882	M	0.70842	2.15	0.58432	D	0.999995	D;D;P;D	0.76494	0.999;0.999;0.913;0.999	P;P;P;P	0.61940	0.896;0.896;0.553;0.896	D	0.96111	0.9077	8	.	.	.	-7.8203	13.1568	0.59522	0.0:1.0:0.0:0.0	.	193;204;204;193	P13805-2;P13805-3;P13805;F5H1H4	.;.;TNNT1_HUMAN;.	Q	204;193;193;134	ENSP00000291901:R204Q;ENSP00000349233:R193Q;ENSP00000439640:R193Q	.	R	-	2	0	TNNT1	60340283	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	2.119000	0.41958	1.751000	0.51876	0.484000	0.47621	CGG		0.622	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283	Missense_Mutation	T	55648471	C	T	55648471	5	4	51	1	0	0	0	0	0	0	1	0	16327	666	23	2	241	2	TNNT1	19	55648471	Splice_Site	SNP	C	TCGA-06-0241-01A-02D-1491-08	7136530	55648471	3480512	58	3224											
PEG3	5178	broad.mit.edu	37	chr19	57327999	57327999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctaaaggtttccccgCgctcacgttcacgttcacgt	6	11	10	14	5	3	0	3	0	0	0	4	0	4	0	3	2	0	4	3	2	2	4	rs200022665		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:57327999C>T	ENST00000326441.9	-	10	2174	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	PEG3_ENST00000593695.1_Missense_Mutation_p.R478H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R604H|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R604H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCCCGCGCtcacgttc	0.458																																						uc002qnu.2																			1	Substitution - Missense(1)	p.R604H(2)|p.R604C(1)	pancreas(1)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1810-1812)cGc>cAc		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG,	0,4406		0,0,2203	89	74	79		1811,1433,1811,1439,,,1811,	0	0	19		79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	29,29,29,29,,,29,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,,,benign,	604/1589,478/1463,604/1589,480/1465,,,604/1589,	57327999	2,13004	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327999C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1811G>A	19.37:g.57327999C>T	ENSP00000326581:p.Arg604His					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	p.R604H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2162	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	604					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1811G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593156	0.13875	0.0	2.33E-4	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	4.0	-0.04	0.13873	.	.	.	.	.	T	0.02230	0.0069	N	0.22421	0.69	.	.	.	B;B;B	0.12630	0.006;0.003;0.006	B;B;B	0.06405	0.002;0.001;0.001	T	0.33111	-0.9881	8	0.87932	D	0	-7.3429	5.4682	0.16656	0.1673:0.6686:0.0:0.1641	.	480;604;539	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	604	ENSP00000326581:R604H;ENSP00000403051:R604H	ENSP00000326581:R604H	R	-	2	0	ZIM2	62019811	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.774000	0.26675	0.057000	0.16193	0.650000	0.86243	CGC		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57327999	C	T	57327999	3	4	51	1	0	0	0	0	1	0	0	0	11720	768	27	1	2959	1	PEG3	19	57327999	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	1679528	57327999	1800984	59	3225											
CHD6	84181	broad.mit.edu	37	chr20	40045338	40045338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggttaataccggggtggGcagtgtgcctgagggctcat	6	10	17	8	1	1	1	1	1	0	0	1	1	1	1	2	5	2	4	2	5	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:40045338G>A	ENST00000373233.3	-	33	6553	c.6376C>T	c.(6376-6378)Ccc>Tcc	p.P2126S	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2126					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCGGGGTGGGCAGTGTGCCT	0.572																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6376-6378)Ccc>Tcc		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							59	51	54					20																	40045338		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045338G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6376C>T	20.37:g.40045338G>A	ENSP00000362330:p.Pro2126Ser					CHD6_uc002xjz.1_5'Flank	p.P2126S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			32	6554	-		Myeloproliferative disorder(115;0.00425)	2126					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6376C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271574	0.23221	.	.	ENSG00000124177	ENST00000373233	D	0.86694	-2.16	5.57	2.58	0.30949	.	0.310946	0.28225	N	0.016134	D	0.82536	0.5058	M	0.72894	2.215	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.74717	-0.3571	10	0.48119	T	0.1	-2.866	3.7854	0.08698	0.1965:0.112:0.5761:0.1154	.	2126	Q8TD26	CHD6_HUMAN	S	2126	ENSP00000362330:P2126S	ENSP00000362330:P2126S	P	-	1	0	CHD6	39478752	0.991000	0.36638	0.510000	0.27712	0.387000	0.30353	0.877000	0.28106	0.404000	0.25506	0.655000	0.94253	CCC		0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40045338	G	A	40045338	3	1	51	1	0	0	0	0	1	0	0	0	3329	1203	42	3	1791	3	CHD6	20	40045338	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		40045338	22980182	60	3226											
L3MBTL	26013	broad.mit.edu	37	chr20	42163558	42163558	+	Frame_Shift_Del	DEL	G	G	-																															ccggctggtgctccaagacaGgacatcccctgcagcctcct																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:42163558delG	ENST00000427442.2	+	16	1894	c.1735delG	c.(1735-1737)ggafs	p.G579fs	L3MBTL1_ENST00000444063.1_Frame_Shift_Del_p.G511fs|L3MBTL1_ENST00000373134.1_Frame_Shift_Del_p.G511fs|L3MBTL1_ENST00000373135.3_Frame_Shift_Del_p.G511fs|L3MBTL1_ENST00000418998.1_Frame_Shift_Del_p.G579fs			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	511					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCCAAGACAGGACATCCCCT	0.557																																						uc002xkn.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(808-810)ggafs		Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.							85	70	75					20																	42163558		2203	4300	6503	SO:0001589	frameshift_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42163558delG	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1735delG	20.37:g.42163558delG	ENSP00000402107:p.Gly579fs					L3MBTL1_uc010zwh.2_Frame_Shift_Del_p.G579fs|L3MBTL1_uc002xkm.3_Frame_Shift_Del_p.G511fs|L3MBTL1_uc010ggl.3_Frame_Shift_Del_p.G511fs|L3MBTL1_uc002xkl.3_Frame_Shift_Del_p.G511fs|L3MBTL1_uc002xko.3_Frame_Shift_Del_p.G163fs	p.G270fs	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN			8	939	+			511					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Frame_Shift_Del	DEL	ENST00000427442.2	37	c.808delG	CCDS46602.2																																																																																				0.557	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		-	42163558	G	-	42163558	7	5	51	1	0	1	0	1	0	0	0	0	8591	1001	35	0	1581	0	L3MBTL	20	42163558	Frame_Shift_Del	DEL	G	TCGA-06-0241-01A-02D-1491-08	2118220	42163558	20861962	61	3227											
RTEL1	8771	broad.mit.edu	37	chr20	62326129	62326129	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacagtgggggtctggaGtgcccagagcagggaagcag	11	4	17	9	0	1	1	0	0	1	1	1	3	1	3	2	4	4	2	2	4	2	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:62326129G>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000318100.4_Missense_Mutation_p.V1049L|RTEL1_ENST00000370018.3_Missense_Mutation_p.V1049L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1049L|RTEL1_ENST00000508582.2_Missense_Mutation_p.V1073L|RTEL1_ENST00000360203.5_Missense_Mutation_p.V1049L|RTEL1_ENST00000370003.1_Missense_Mutation_p.V294L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GGGGTCTGGAGTGCCCAGAGC	0.687																																						uc021wge.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(3145-3147)Gtg>Ttg		Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.							24	31	29					20																	62326129		2168	4275	6443	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326129G>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326129G>T	Exception_encountered					RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V1049L|RTEL1_uc011abd.2_Missense_Mutation_p.V1073L|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank	p.V1049L	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3315	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		1049						Missense_Mutation	SNP	ENST00000369996.1	37	c.3145G>T	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555080	0.13436	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;D;T;T;T	0.81579	-1.49;-1.51;-1.44;-1.49;0.93	2.71	1.31	0.21738	.	21.172100	0.00166	N	0.000000	T	0.64724	0.2624	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.09377	0.001;0.0;0.004;0.0	T	0.56492	-0.7970	10	0.44086	T	0.13	.	5.6655	0.17693	0.2245:0.0:0.7755:0.0	.	1073;294;1049;1049	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	L	1049;1049;1073;1049;294	ENSP00000359035:V1049L;ENSP00000322287:V1049L;ENSP00000424307:V1073L;ENSP00000353332:V1049L;ENSP00000359020:V294L	ENSP00000353332:V1049L	V	+	1	0	AL353715.1	61796573	0.058000	0.20735	0.001000	0.08648	0.008000	0.06430	2.508000	0.45450	1.052000	0.40392	0.313000	0.20887	GTG		0.687	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			T	62326129	G	T	62326129	1	4	51	0	1	0	0	0	0	0	0	0	13720	1029	36	5		5	RTEL1	20	62326129	5'Flank	SNP	G	TCGA-06-0241-01A-02D-1491-08	20162571	62326129	699391	62	3228											
MAGEB4	4115	broad.mit.edu	37	chrX	30260976	30260976	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttatctttggggaacccCgaaagctcatcacccaagat	12	9	7	13	1	3	1	2	0	1	1	3	3	3	2	4	2	2	1	4	2	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30260976C>T	ENST00000378982.2	+	1	920	c.724C>T	c.(724-726)Cga>Tga	p.R242*	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	242	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGGGGAACCCCGAAAGCTCAT	0.488																																						uc004dcb.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(724-726)Cga>Tga		Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.							64	62	62					X																	30260976		2202	4300	6502	SO:0001587	stop_gained	4115							g.chrX:30260976C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.724C>T	X.37:g.30260976C>T	ENSP00000368266:p.Arg242*					MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	p.R242*	NM_002367	NP_002358	O15481	MAGB4_HUMAN			0	920	+			242			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Nonsense_Mutation	SNP	ENST00000378982.2	37	c.724C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364436	0.61513	.	.	ENSG00000120289	ENST00000378982	.	.	.	3.31	-5.57	0.02521	.	0.069679	0.53938	U	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1914	0.20526	0.1638:0.5161:0.0:0.3201	.	.	.	.	X	242	.	ENSP00000368266:R242X	R	+	1	2	MAGEB4	30170897	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.639000	0.05446	-1.529000	0.01754	-0.191000	0.12829	CGA		0.488	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		T	30260976	C	T	30260976	4	4	51	1	0	0	0	0	0	1	0	0	9178	644	23	2	726	2	MAGEB4	23	30260976	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		30260976	125009584	63	3229											
TAB3	257397	broad.mit.edu	37	chrX	30872355	30872355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggttctggtgctgcagagCgctcttcttggtccactaaa	7	13	11	10	1	3	1	0	0	3	1	4	1	4	1	1	3	3	4	1	3	3	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30872355C>T	ENST00000378933.1	-	3	1604	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.R476H|TAB3_ENST00000378932.2_Missense_Mutation_p.R476H|TAB3_ENST00000378930.3_Missense_Mutation_p.R476H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	476					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGCAGAGCGCTCTTCTTG	0.443																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(1426-1428)cGc>cAc		Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.							85	81	82					X																	30872355		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872355C>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1427G>A	X.37:g.30872355C>T	ENSP00000368215:p.Arg476His					TAB3_uc004dck.3_Missense_Mutation_p.R476H|TAB3_uc010ngl.3_Missense_Mutation_p.R476H	p.R476H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			5	2090	-			476					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.1427G>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	1.839	-0.468025	0.04476	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.70986	-0.51;-0.51;-0.51;-0.53	4.94	4.06	0.47325	.	0.148925	0.64402	D	0.000008	T	0.38241	0.1033	N	0.01505	-0.83	0.43211	D	0.995073	B;B	0.12013	0.002;0.005	B;B	0.11329	0.006;0.002	T	0.13899	-1.0492	10	0.13108	T	0.6	-2.3808	8.4996	0.33150	0.0:0.765:0.1514:0.0836	.	476;476	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	476	ENSP00000368215:R476H;ENSP00000368212:R476H;ENSP00000288422:R476H;ENSP00000368214:R476H	ENSP00000288422:R476H	R	-	2	0	TAB3	30782276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.276000	0.33156	0.968000	0.38212	0.523000	0.50628	CGC		0.443	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		T	30872355	C	T	30872355	3	4	51	1	0	0	0	0	1	0	0	0	15494	768	27	1	735	1	TAB3	23	30872355	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	611379	30872355	124398205	64	3230											
RGN	9104	broad.mit.edu	37	chrX	46951551	46951551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaatgtatgtgacctgCgcccgggatgggatggaccc	8	9	14	10	2	1	2	0	2	1	0	1	5	1	5	3	3	1	1	3	3	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:46951551C>G	ENST00000352078.4	+	6	1131	c.786C>G	c.(784-786)tgC>tgG	p.C262W	RGN_ENST00000336169.3_Missense_Mutation_p.C262W|RGN_ENST00000397180.1_Missense_Mutation_p.C262W|RGN_ENST00000457380.1_Missense_Mutation_p.C190W	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	262					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATGTGACCTGCGCCCGGGATG	0.468																																						uc004dgz.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(784-786)tgC>tgG		Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.							71	67	68					X																	46951551		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951551C>G	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"senescence marker protein-30", "gluconolactonase"	300212	"regucalcin (senescence marker protein-30)"			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.786C>G	X.37:g.46951551C>G	ENSP00000253303:p.Cys262Trp					RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	p.C262W	NM_152869	NP_690608	Q15493	RGN_HUMAN			6	1755	+			262					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.786C>G	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553034	0.45487	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.61	-2.65	0.06095	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.282781	0.41938	D	0.000798	T	0.31009	0.0783	N	0.24115	0.695	0.51767	D	0.99993	D;D	0.89917	0.999;1.0	P;D	0.71656	0.861;0.974	T	0.13953	-1.0490	10	0.87932	D	0	-14.7211	6.5286	0.22314	0.1078:0.269:0.0:0.6232	.	190;262	Q15493-2;Q15493	.;RGN_HUMAN	W	262;190;262;262	ENSP00000380365:C262W;ENSP00000406568:C190W;ENSP00000253303:C262W;ENSP00000338400:C262W	ENSP00000338400:C262W	C	+	3	2	RGN	46836495	0.998000	0.40836	0.369000	0.25952	0.699000	0.40488	0.327000	0.19663	-0.631000	0.05560	-1.307000	0.01316	TGC		0.468	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		G	46951551	C	G	46951551	3	3	51	1	0	0	0	0	1	0	0	0	13282	776	27	5	804	5	RGN	23	46951551	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	16079196	46951551	108319009	65	3231											
USP11	8237	broad.mit.edu	37	chrX	47098522	47098522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcatacgtgcagggagGggaccaggactccagcacct	10	4	16	11	1	0	0	0	0	0	0	1	4	1	4	3	6	3	3	3	6	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:47098522G>A	ENST00000218348.3	+	2	359	c.359G>A	c.(358-360)gGg>gAg	p.G120E	USP11_ENST00000377107.2_Missense_Mutation_p.G77E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	120	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCAGGGAGGGGACCAGGAC	0.557																																						uc004dhp.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(358-360)gGg>gAg		Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.							89	55	67					X																	47098522		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47098522G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.359G>A	X.37:g.47098522G>A	ENSP00000218348:p.Gly120Glu					USP11_uc004dhq.3_5'UTR	p.G120E	NM_004651	NP_004642	P51784	UBP11_HUMAN			1	359	+			120			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.359G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811451	0.70797	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20200	2.11;2.09	5.95	4.14	0.48551	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.573459	0.17688	N	0.165380	T	0.13329	0.0323	L	0.29908	0.895	0.49483	D	0.999798	P	0.36974	0.576	B	0.34242	0.178	T	0.10941	-1.0608	10	0.22109	T	0.4	-11.9417	7.9206	0.29843	0.2712:0.0:0.7288:0.0	.	120	P51784	UBP11_HUMAN	E	77;120	ENSP00000366311:G77E;ENSP00000218348:G120E	ENSP00000218348:G120E	G	+	2	0	USP11	46983466	1.000000	0.71417	0.563000	0.28383	0.993000	0.82548	3.619000	0.54196	0.587000	0.29643	0.600000	0.82982	GGG		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		A	47098522	G	A	47098522	3	1	51	1	0	0	0	0	1	0	0	0	17039	1232	43	3	365	3	USP11	23	47098522	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	146971	47098522	108172038	66	3232											
KLF8	11279	broad.mit.edu	37	chrX	56291902	56291902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacccttgtggtgtccaCgtcaacatctgacatgagca	10	9	9	13	1	2	3	1	2	1	1	3	3	3	3	3	1	2	1	3	1	1	1	rs143280924		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56291902C>A	ENST00000468660.1	+	3	659	c.371C>A	c.(370-372)aCg>aAg	p.T124K	KLF8_ENST00000374928.3_Missense_Mutation_p.T124K	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGGTGTCCACGTCAACATCT	0.542																																						uc004dur.3																			0		p.T124T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						c.(370-372)aCg>aAg		Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.							108	85	93					X																	56291902		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56291902C>A	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.371C>A	X.37:g.56291902C>A	ENSP00000417303:p.Thr124Lys					KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.2_Missense_Mutation_p.T124K|KLF8_uc010nkh.3_Non-coding_Transcript	p.T124K	NM_007250	NP_009181	O95600	KLF8_HUMAN			2	1317	+			124					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.371C>A	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917893	0.52546	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.28895	1.59;1.59	4.5	2.7	0.31948	.	0.382273	0.25135	N	0.032869	T	0.29588	0.0738	L	0.43152	1.355	0.20926	N	0.999827	P;P;B	0.48016	0.904;0.904;0.199	P;P;B	0.48840	0.592;0.592;0.042	T	0.09314	-1.0680	10	0.72032	D	0.01	.	5.4738	0.16684	0.0:0.7458:0.0:0.2542	.	124;124;124	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	K	124	ENSP00000364063:T124K;ENSP00000417303:T124K	ENSP00000431911:T124K	T	+	2	0	KLF8	56308627	0.004000	0.15560	0.674000	0.29902	0.897000	0.52465	1.812000	0.38952	0.990000	0.38787	0.594000	0.82650	ACG		0.542	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		A	56291902	C	A	56291902	3	1	51	1	0	0	0	0	1	0	0	0	8352	536	19	5	381	5	KLF8	23	56291902	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	9193380	56291902	98978658	67	3233											
UBQLN2	29978	broad.mit.edu	37	chrX	56592046	56592046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgccgaatccagaagtCagatttcagcaacaactgga	14	7	9	11	1	2	2	2	0	0	2	3	4	3	3	2	1	5	2	2	1	4	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56592046C>T	ENST00000338222.5	+	1	2021	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	580					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATCCAGAAGTCAGATTTCAGC	0.512																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(1738-1740)gtC>gtT		Homo sapiens ubiquilin 2 (UBQLN2), mRNA.							67	55	59					X																	56592046		2203	4300	6503	SO:0001819	synonymous_variant	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56592046C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1740C>T	X.37:g.56592046C>T						UBQLN2_uc011moq.1_Silent_p.V468V	p.V580V	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			0	2021	+			580					O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	c.1740C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	4.017	0.000507	0.07819	.	.	ENSG00000188021	ENST00000535171	.	.	.	4.55	0.582	0.17412	.	.	.	.	.	T	0.58163	0.2103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55679	-0.8103	5	0.87932	D	0	-9.5212	4.1668	0.10310	0.0:0.4287:0.169:0.4023	.	.	.	.	L	474	.	ENSP00000438573:S474L	S	+	2	0	UBQLN2	56608771	0.907000	0.30839	0.996000	0.52242	0.966000	0.64601	-0.037000	0.12164	-0.123000	0.11745	0.594000	0.82650	TCA		0.512	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		T	56592046	C	T	56592046	2	4	51	1	0	0	0	0	0	0	0	1	16894	813	29	3		3	UBQLN2	23	56592046	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	300144	56592046	98678514	68	3234											
ASB12	142689	broad.mit.edu	37	chrX	63445208	63445208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcagtgaaaagtggcGtctgtgccttgacatccaag	11	9	12	9	1	1	3	0	3	1	0	2	3	2	3	2	1	2	1	2	1	3	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:63445208G>A	ENST00000396130.2	-	1	295	c.296C>T	c.(295-297)aCg>aTg	p.T99M	ASB12_ENST00000362002.2_Missense_Mutation_p.T108M|MTMR8_ENST00000453546.1_Missense_Mutation_p.T483M			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	99					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GAAAAGTGGCGTCTGTGCCTT	0.517													G|||	3	0.000794702	0	0	3775	,	,		16740	0.002		0	False		,,,				2504	0.001					uc011mou.2																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1447-1449)aCg>aTg		Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.							111	63	79					X																	63445208		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445208G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.296C>T	X.37:g.63445208G>A	ENSP00000379435:p.Thr99Met					MTMR8_uc004dvq.2_Missense_Mutation_p.T99M|MTMR8_uc004dvr.2_Missense_Mutation_p.T108M	p.T483M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			9	1538	-			0			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1448C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887292	0.52014	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.64260	-0.09;-0.09;-0.09	4.0	3.13	0.36017	Ankyrin repeat-containing domain (4);	0.050048	0.85682	D	0.000000	D	0.83046	0.5169	H	0.95884	3.735	0.27617	N	0.948463	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.909	T	0.76753	-0.2843	10	0.72032	D	0.01	-21.0413	9.6206	0.39719	0.1083:0.0:0.8917:0.0	.	483;99	B4DQL0;Q8WXK4	.;ASB12_HUMAN	M	108;99;108;483	ENSP00000355195:T108M;ENSP00000379435:T99M;ENSP00000394003:T483M	ENSP00000354626:T108M	T	-	2	0	ASB12;MTMR8	63361933	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	7.046000	0.76592	0.832000	0.34804	0.468000	0.43344	ACG		0.517	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	63445208	G	A	63445208	3	1	51	1	0	0	0	0	1	0	0	0	1016	1145	40	1	641	1	ASB12	23	63445208	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	6853162	63445208	91825352	69	3235											
KIF4A	24137	broad.mit.edu	37	chrX	69595167	69595167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaaaggaatccacagagcGtactgtctccaaactgaacc	15	7	7	12	1	1	2	0	1	1	1	3	3	2	3	3	1	4	1	3	1	6	2	rs201310458		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:69595167G>A	ENST00000374403.3	+	17	1974	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R631H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	631					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCACAGAGCGTACTGTCTCC	0.423																																						uc004dyg.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1891-1893)cGt>cAt		Homo sapiens kinesin family member 4A (KIF4A), mRNA.							104	92	96					X																	69595167		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69595167G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1892G>A	X.37:g.69595167G>A	ENSP00000363524:p.Arg631His					KIF4A_uc010nkw.3_Missense_Mutation_p.R631H|KIF4A_uc004dyf.2_Missense_Mutation_p.R631H	p.R631H	NM_012310	NP_036442	O95239	KIF4A_HUMAN			16	2035	+			631					B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.1892G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047102	0.19827	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.17370	2.28;2.28	5.29	2.71	0.32032	.	0.560897	0.17262	N	0.180729	T	0.06600	0.0169	N	0.04508	-0.205	0.30802	N	0.739785	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26258	-1.0108	10	0.25106	T	0.35	.	5.0031	0.14275	0.7028:0.0:0.1589:0.1383	.	631;631	O95239;O95239-2	KIF4A_HUMAN;.	H	631	ENSP00000363509:R631H;ENSP00000363524:R631H	ENSP00000363509:R631H	R	+	2	0	KIF4A	69511892	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.018000	0.30002	0.282000	0.22254	-0.354000	0.07668	CGT		0.423	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		A	69595167	G	A	69595167	3	1	51	1	0	0	0	0	1	0	0	0	8303	1145	40	1	1954	1	KIF4A	23	69595167	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	6149959	69595167	85675393	70	3236											
ATRX	546	broad.mit.edu	37	chrX	76937238	76937238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttttagatgaagttctTtgcttcttctttttattatc	6	25	4	6	0	4	2	0	1	4	1	5	2	4	2	0	0	1	2	0	0	4	12			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:76937238T>C	ENST00000373344.5	-	9	3724	c.3510A>G	c.(3508-3510)caA>caG	p.Q1170Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.Q1132Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1170					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATGAAGTTCTTTGCTTCTTCT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3508-3510)caA>caG		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						154	135	141					X																	76937238		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937238T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3510A>G	X.37:g.76937238T>C						ATRX_uc004ecq.4_Silent_p.Q1132Q|ATRX_uc004eco.4_Silent_p.Q955Q|ATRX_uc004ecr.2_Silent_p.Q1102Q|ATRX_uc010nlx.1_Silent_p.Q1141Q|ATRX_uc010nly.1_Silent_p.Q1115Q	p.Q1170Q	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	3742	-			1170					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.3510A>G	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76937238	T	C	76937238	2	2	51	1	0	0	0	0	0	0	0	1	1208	1838	64	4		4	ATRX	23	76937238	Silent	SNP	T	TCGA-06-0241-01A-02D-1491-08	7342071	76937238	78333322	71	3237											
GPR174	84636	broad.mit.edu	37	chrX	78427380	78427380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttgacccagtcatataCtacttttccactaatgagtt	10	16	5	10	0	2	2	1	2	1	0	3	2	3	2	2	0	2	1	2	0	4	8			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:78427380C>T	ENST00000276077.1	+	1	912	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTCATATACTACTTTTCCA	0.398										HNSCC(63;0.18)																												uc004edg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(874-876)taC>taT		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							144	123	130					X																	78427380		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427380C>T	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.876C>T	X.37:g.78427380C>T		HNSCC(63;0.18)					p.Y292Y	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			0	912	+			292					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.876C>T	CCDS14443.1																																																																																				0.398	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		T	78427380	C	T	78427380	2	4	51	1	0	0	0	0	0	0	0	1	6672	576	20	3		3	GPR174	23	78427380	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	1490142	78427380	76843180	72	3238											
COL4A6	1288	broad.mit.edu	37	chrX	107412771	107412771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcttccctggagctccGatgccaattcctggatatcc	6	10	9	16	2	0	0	0	0	0	0	4	3	4	2	6	3	2	2	6	3	2	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:107412771G>A	ENST00000372216.4	-	37	3748	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I	COL4A6_ENST00000545689.1_Silent_p.I1191I|COL4A6_ENST00000334504.7_Silent_p.I1215I|COL4A6_ENST00000394872.2_Silent_p.I1216I|COL4A6_ENST00000538570.1_Silent_p.I1191I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1216	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGGAGCTCCGATGCCAATTC	0.577									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3646-3648)atC>atT		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							72	52	59					X																	107412771		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107412771G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3648C>T	X.37:g.107412771G>A						COL4A6_uc004env.4_Silent_p.I1215I|COL4A6_uc011msn.2_Silent_p.I1191I|COL4A6_uc010npk.3_Silent_p.I1191I	p.I1216I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			36	3751	-			1216			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.3648C>T	CCDS14541.1																																																																																				0.577	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107412771	G	A	107412771	2	1	51	1	0	0	0	0	0	0	0	1	3695	1048	37	2		2	COL4A6	23	107412771	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	28985391	107412771	47857789	73	3239											
SLC9A6	10479	broad.mit.edu	37	chrX	135081058	135081058	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgaaggtaacgggaCaacttgcaggagatttttac	12	10	12	7	2	0	3	0	2	0	1	0	5	0	4	0	3	4	3	0	3	4	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:135081058C>T	ENST00000370698.3	+	5	663	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	SLC9A6_ENST00000370701.1_Nonsense_Mutation_p.Q190*|SLC9A6_ENST00000370695.4_Nonsense_Mutation_p.Q242*	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	210					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTAACGGGACAACTTGCAGG	0.353																																						uc004ezk.3																			0		p.E241*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(724-726)Caa>Taa		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.							201	179	187					X																	135081058		2203	4300	6503	SO:0001587	stop_gained	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135081058C>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.628C>T	X.37:g.135081058C>T	ENSP00000359732:p.Gln210*					SLC9A6_uc011mvx.2_Nonsense_Mutation_p.Q190*|SLC9A6_uc004ezj.3_Nonsense_Mutation_p.Q210*	p.Q242*	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN			4	800	+	Acute lymphoblastic leukemia(192;0.000127)		210					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Nonsense_Mutation	SNP	ENST00000370698.3	37	c.724C>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062183	0.97246	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	.	.	.	5.51	5.51	0.81932	.	0.167653	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.4376	0.55608	0.1672:0.8328:0.0:0.0	.	.	.	.	X	190;210;242	.	ENSP00000359729:Q242X	Q	+	1	0	SLC9A6	134908724	1.000000	0.71417	0.992000	0.48379	0.898000	0.52572	5.578000	0.67450	2.306000	0.77630	0.538000	0.68166	CAA		0.353	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		T	135081058	C	T	135081058	4	4	51	1	0	0	0	0	0	1	0	0	14718	479	17	3	742	3	SLC9A6	23	135081058	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	27668287	135081058	20189502	74	3240											
PLXNB3	5365	broad.mit.edu	37	chrX	153033730	153033730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagtcgtacccctgtggCgacgagcacacccccagccc	7	4	10	20	4	0	0	0	0	0	0	1	3	0	0	6	1	3	2	6	1	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:153033730C>T	ENST00000361971.5	+	4	1227	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	PLXNB3_ENST00000538776.1_Silent_p.G24G|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Silent_p.G394G|PLXNB3_ENST00000538282.1_Silent_p.G24G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGTGGCGACGAGCACA	0.687													C|||	2	0.000529801	0	0	3775	,	,		11294	0		0	False		,,,				2504	0.002					uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1180-1182)ggC>ggT		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							38	43	41					X																	153033730		2203	4298	6501	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033730C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1113C>T	X.37:g.153033730C>T						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.G53G|PLXNB3_uc004fii.2_Silent_p.G371G|PLXNB3_uc011mzd.1_Silent_p.G10G	p.G394G	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			4	1453	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		371			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1182C>T	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153033730	C	T	153033730	2	4	51	1	0	0	0	0	0	0	0	1	12125	755	27	1		1	PLXNB3	23	153033730	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	17952672	153033730	2236830	75	3241											
UBE4B	10277	broad.mit.edu	37	chr1	10192468	10192468	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtattttgttaaatggCgaaacccgtgaggctgctct	10	13	10	8	2	1	1	0	1	1	0	1	2	1	1	1	2	2	4	1	2	5	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:10192468C>G	ENST00000253251.8	+	14	2405	c.1566C>G	c.(1564-1566)ggC>ggG	p.G522G	UBE4B_ENST00000343090.6_Silent_p.G651G|UBE4B_ENST00000377157.3_Silent_p.G406G|UBE4B_ENST00000475795.1_3'UTR					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTAAATGGCGAAACCCGTG	0.373																																						uc021ogc.1																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2104-2106)ggC>ggG		Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.							70	73	72					1																	10192468		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10192468C>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1566C>G	1.37:g.10192468C>G						UBE4B_uc001aqs.4_Silent_p.G651G|UBE4B_uc001aqr.4_Silent_p.G522G|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.G106G	p.G702G	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	15	2794	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	651						Silent	SNP	ENST00000253251.8	37	c.2106C>G	CCDS110.1																																																																																				0.373	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		G	10192468	C	G	10192468	2	3	52	1	0	0	0	0	0	0	0	1	16880	755	27	5		5	UBE4B	1	10192468	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		10192468	239058153	1	3242											
GRIK3	2899	broad.mit.edu	37	chr1	37307528	37307528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgatttccgaaacatgaCgaagggctcctcctgcagag	10	9	11	11	2	1	3	0	2	1	1	4	5	4	3	3	1	2	2	3	1	2	1	rs114307108		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:37307528C>T	ENST00000373091.3	-	10	1355	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	GRIK3_ENST00000373093.4_Missense_Mutation_p.V447I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	447					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGAAACATGACGAAGGGCTCC	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		20945	0		0	False		,,,				2504	0					uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1339-1341)Gtc>Atc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	126	115	119		1339	4.9	1	1	dbSNP_132	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GRIK3	NM_000831.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	447/920	37307528	2,13004	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307528C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1339G>A	1.37:g.37307528C>T	ENSP00000362183:p.Val447Ile					GRIK3_uc001cba.1_Missense_Mutation_p.V447I	p.V447I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			9	1474	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	447					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1339G>A	CCDS416.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.52	3.641349	0.67244	2.27E-4	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.78595	-1.19;-1.19	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.84343	0.5451	L	0.42744	1.35	0.48236	D	0.99961	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	D	0.85997	0.1492	10	0.72032	D	0.01	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	447;447	A9Z1Z8;Q13003	.;GRIK3_HUMAN	I	447	ENSP00000362183:V447I;ENSP00000362185:V447I	ENSP00000362183:V447I	V	-	1	0	GRIK3	37080115	1.000000	0.71417	0.991000	0.47740	0.215000	0.24574	7.776000	0.85560	2.446000	0.82766	0.655000	0.94253	GTC		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		T	37307528	C	T	37307528	3	4	52	1	0	0	0	0	1	0	0	0	6775	536	19	1	1448	1	GRIK3	1	37307528	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	27115060	37307528	211943093	2	3243											
C1orf175	374977	broad.mit.edu	37	chr1	55148429	55148429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgaaggagaagcccGtcaccaaggagggccgggct	10	3	16	12	2	1	2	1	1	0	1	1	4	1	3	4	4	2	2	4	4	3	0	rs367669775		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:55148429G>A	ENST00000421030.2	+	14	2767	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.V828I|MROH7_ENST00000454855.2_Missense_Mutation_p.V346I|MROH7_ENST00000395690.2_Missense_Mutation_p.V828I|MROH7_ENST00000409996.1_Missense_Mutation_p.V396I|MROH7_ENST00000545244.1_Missense_Mutation_p.V396I|MROH7_ENST00000339553.5_Missense_Mutation_p.V828I	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	828						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGAGAAGCCCGTCACCAAGGA	0.622																																						uc010ooe.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2482-2484)Gtc>Atc		Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.		A	ILE/VAL	0,4046		0,0,2023	54	56	55		2482	2.3	0.8	1		55	1,8369		0,1,4184	no	missense	HEATR8	NM_001039464.2	29	0,1,6207	AA,AG,GG		0.0119,0.0,0.0081	benign	828/1324	55148429	1,12415	2023	4185	6208	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55148429G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2482G>A	1.37:g.55148429G>A	ENSP00000396622:p.Val828Ile					HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.V396I|HEATR8_uc010ood.1_Missense_Mutation_p.V346I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.V828I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.V30I	p.V828I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			13	2806	+			828					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2482G>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	g	7.100	0.573946	0.13623	0.0	1.19E-4	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.03982	4.79;3.74;4.24;4.54;4.42;4.24	4.25	2.34	0.29019	Armadillo-type fold (1);	0.753201	0.11320	N	0.576131	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	0.999993	B;B;B;B	0.33494	0.37;0.414;0.032;0.37	B;B;B;B	0.21708	0.036;0.023;0.008;0.033	T	0.45483	-0.9258	10	0.25106	T	0.35	-8.5791	5.4036	0.16308	0.1049:0.0:0.6974:0.1977	.	828;828;396;828	F8W8P2;Q68CQ1;F5H7R4;Q68CQ1-9	.;HEAT8_HUMAN;.;.	I	828;396;857;828;396;346;828	ENSP00000396622:V828I;ENSP00000442333:V396I;ENSP00000343211:V828I;ENSP00000387048:V396I;ENSP00000401130:V346I;ENSP00000379044:V828I	ENSP00000343211:V828I	V	+	1	0	HEATR8	54921017	0.196000	0.23350	0.753000	0.31225	0.254000	0.26022	0.258000	0.18387	0.529000	0.28599	-0.355000	0.07637	GTC		0.622	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		A	55148429	G	A	55148429	3	1	52	1	0	0	0	0	1	0	0	0	2016	1145	40	1	2528	1	C1orf175	1	55148429	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	17840901	55148429	194102192	3	3244											
COL24A1	255631	broad.mit.edu	37	chr1	86340334	86340334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagggggcactcacccGtaaacctggttccccagttc	8	10	9	14	1	2	0	2	0	0	0	4	0	3	0	4	3	1	4	4	3	3	4	rs538248306		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:86340334G>A	ENST00000370571.2	-	35	3502	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1046W	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1046	Collagen-like 9.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCACTCACCCGTAAACCTGGT	0.408																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3136-3138)Cgg>Tgg		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							57	55	56					1																	86340334		1860	4092	5952	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86340334G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3136C>T	1.37:g.86340334G>A	ENSP00000359603:p.Arg1046Trp					COL24A1_uc001dli.3_Missense_Mutation_p.R182W|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R346W|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.R1046W	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	34	3211	-			1046			Collagen-like 9.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3136C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924331	0.18056	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93906	-3.31;-3.31	5.53	2.3	0.28687	.	0.000000	0.36268	N	0.002697	D	0.96506	0.8860	M	0.93283	3.4	0.44555	D	0.997514	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96459	0.9340	10	0.87932	D	0	.	11.0041	0.47624	0.0:0.0:0.4128:0.5872	.	1046;1046	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	W	1046	ENSP00000359603:R1046W;ENSP00000392531:R1046W	ENSP00000359603:R1046W	R	-	1	2	COL24A1	86112922	0.992000	0.36948	0.624000	0.29186	0.108000	0.19459	2.417000	0.44653	0.673000	0.31224	-0.182000	0.12963	CGG		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		A	86340334	G	A	86340334	3	1	52	1	0	0	0	0	1	0	0	0	3683	1144	40	1	2112	1	COL24A1	1	86340334	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	31191905	86340334	162910287	4	3245											
CFHR4	3080	broad.mit.edu	37	chr1	196884116	196884116	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgggcctcctccacCtattagcaatggtgatacca	11	10	9	11	0	0	1	0	1	0	0	2	1	2	1	5	2	2	1	5	2	5	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:196884116C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Missense_Mutation_p.P216H|CFHR4_ENST00000367416.2_Missense_Mutation_p.P462H|CFHR4_ENST00000608469.1_Missense_Mutation_p.P86H|CFHR4_ENST00000251424.4_Missense_Mutation_p.P216H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CCTCCTCCACCTATTAGCAAT	0.378																																						uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1387-1389)cCt>cAt		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							46	47	47					1																	196884116		2198	4277	6475	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196884116C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34469C>A	1.37:g.196884116C>A						CFH_uc021pgt.1_Missense_Mutation_p.P86H|CFH_uc009wyy.3_Missense_Mutation_p.P462H|CFH_uc001gto.3_Missense_Mutation_p.P216H	p.P463H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			8	1525	+			816			Sushi 8.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1388C>A		.	.	.	.	.	.	.	.	.	.	C	11.53	1.666470	0.29604	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65549	-0.16;-0.16;-0.16	3.16	2.19	0.27852	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75406	0.3845	M	0.79805	2.47	0.09310	N	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.76071	0.862;0.987;0.974	T	0.60110	-0.7327	9	0.46703	T	0.11	.	6.7151	0.23298	0.0:0.8427:0.0:0.1573	.	462;463;216	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	462;216;216;216	ENSP00000356386:P462H;ENSP00000356388:P216H;ENSP00000251424:P216H	ENSP00000251424:P216H	P	+	2	0	CFHR4	195150739	0.001000	0.12720	0.181000	0.23098	0.334000	0.28698	0.584000	0.23864	1.474000	0.48178	0.197000	0.17608	CCT		0.378	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		A	196884116	C	A	196884116	1	1	52	0	1	0	0	0	0	0	0	0	3287	681	24	5		5	CFHR4	1	196884116	Intron	SNP	C	TCGA-06-0644-01A-02D-1492-08	110543782	196884116	52366505	5	3246											
CENPF	1063	broad.mit.edu	37	chr1	214815836	214815836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctttggctccattggaCgagagtaattcctacgagca	9	12	11	9	2	1	1	0	0	1	1	3	4	3	2	2	2	2	3	2	2	2	5	rs139914723		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:214815836C>T	ENST00000366955.3	+	12	4323	c.4155C>T	c.(4153-4155)gaC>gaT	p.D1385D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCATTGGACGAGAGTAATT	0.423													C|||	1	0.000199681	8e-04	0	5008	,	,		21512	0		0	False		,,,				2504	0				Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4153-4155)gaC>gaT		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							50	47	48					1																	214815836		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815836C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4155C>T	1.37:g.214815836C>T							p.D1385D	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	4329	+			1482					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.4155C>T	CCDS31023.1																																																																																				0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214815836	C	T	214815836	2	4	52	1	0	0	0	0	0	0	0	1	3231	535	19	1		1	CENPF	1	214815836	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	17931720	214815836	34434785	6	3247											
GKN1	56287	broad.mit.edu	37	chr2	69207121	69207121	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaacaaagtcgatgaccTgagcaagttcggaaaaaaca	18	5	8	10	2	0	2	0	2	0	0	2	4	0	3	2	1	3	2	2	1	6	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:69207121T>A	ENST00000377938.2	+	5	497	c.434T>A	c.(433-435)cTg>cAg	p.L145Q		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	145	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GTCGATGACCTGAGCAAGTTC	0.502																																						uc002sfc.3																			0				breast(2)|large_intestine(4)|lung(5)	11						c.(433-435)cTg>cAg		Homo sapiens gastrokine 1 (GKN1), mRNA.							169	124	139					2																	69207121		2203	4300	6503	SO:0001583	missense	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69207121T>A	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"BRICHOS domain containing"	23217	protein-coding gene	gene with protein product	"BRICHOS domain containing 1"	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.434T>A	2.37:g.69207121T>A	ENSP00000367172:p.Leu145Gln						p.L145Q	NM_019617	NP_062563	Q9NS71	GKN1_HUMAN			4	497	+			145			BRICHOS.		Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	37	c.434T>A	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396763	0.83120	.	.	ENSG00000169605	ENST00000377938	T	0.81415	-1.49	5.35	5.35	0.76521	BRICHOS (2);	0.330560	0.25732	N	0.028673	D	0.89086	0.6615	M	0.78801	2.425	0.30522	N	0.76835	D	0.89917	1.0	D	0.85130	0.997	D	0.87893	0.2685	10	0.87932	D	0	-5.666	13.376	0.60739	0.0:0.0:0.0:1.0	.	145	Q9NS71	GKN1_HUMAN	Q	145	ENSP00000367172:L145Q	ENSP00000367172:L145Q	L	+	2	0	GKN1	69060625	0.992000	0.36948	0.123000	0.21794	0.494000	0.33585	4.344000	0.59354	2.257000	0.74773	0.529000	0.55759	CTG		0.502	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		A	69207121	T	A	69207121	3	1	52	1	0	0	0	0	1	0	0	0	6424	1580	55	5	452	5	GKN1	2	69207121	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		69207121	173992252	7	3248											
FAM123C	205147	broad.mit.edu	37	chr2	131520943	131520943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaccccagcgagggtcCtcttggccccagcccagatg	7	5	11	18	2	1	1	0	0	1	1	2	3	2	1	7	2	2	0	7	2	0	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:131520943C>A	ENST00000423981.1	+	2	1408	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	AMER3_ENST00000321420.4_Missense_Mutation_p.P433H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	433					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCGAGGGTCCTCTTGGCCCC	0.657																																						uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1297-1299)cCt>cAt		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							39	39	39					2																	131520943		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520943C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1298C>A	2.37:g.131520943C>A	ENSP00000392700:p.Pro433His					FAM123C_uc002trw.2_Missense_Mutation_p.P433H|FAM123C_uc010fmv.2_Missense_Mutation_p.P433H|FAM123C_uc010fms.1_Missense_Mutation_p.P433H|FAM123C_uc010fmt.1_Missense_Mutation_p.P433H|FAM123C_uc010fmu.1_Missense_Mutation_p.P433H	p.P433H	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1298	+	Colorectal(110;0.1)		433					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1298C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206163	0.22205	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.49720	0.77;0.77	5.2	4.2	0.49525	.	0.470729	0.19226	N	0.119543	T	0.53530	0.1802	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.42916	-0.9423	10	0.62326	D	0.03	.	12.2992	0.54864	0.2047:0.7953:0.0:0.0	.	433	Q8N944	F123C_HUMAN	H	433	ENSP00000314914:P433H;ENSP00000392700:P433H	ENSP00000314914:P433H	P	+	2	0	FAM123C	131237413	0.212000	0.23540	0.154000	0.22540	0.006000	0.05464	2.085000	0.41634	2.602000	0.87976	0.561000	0.74099	CCT		0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131520943	C	A	131520943	3	1	52	1	0	0	0	0	1	0	0	0	5424	681	24	5	1300	5	FAM123C	2	131520943	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	62313822	131520943	111678430	8	3249											
LRIG1	26018	broad.mit.edu	37	chr3	66449417	66449417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaggccttccagcccCgagaatgctctcttagccac	7	9	8	17	1	1	1	0	0	1	1	4	2	3	1	6	1	4	2	6	1	2	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:66449417C>T	ENST00000273261.3	-	10	1733	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	LRIG1_ENST00000383703.3_Silent_p.S427S|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	403					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCCAGCCCCGAGAATGCTC	0.522																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1207-1209)tcG>tcA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							69	59	62					3																	66449417		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66449417C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1209G>A	3.37:g.66449417C>T						LRIG1_uc011bfu.2_Silent_p.S23S|LRIG1_uc003dmw.3_Silent_p.S69S|LRIG1_uc010hnz.3_Intron|LRIG1_uc010hoa.3_Silent_p.S427S	p.S403S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	9	1223	-		Lung NSC(201;0.0101)	403					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1209G>A	CCDS33783.1																																																																																				0.522	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		T	66449417	C	T	66449417	2	4	52	1	0	0	0	0	0	0	0	1	8944	639	23	2		2	LRIG1	3	66449417	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		66449417	131573013	9	3250											
FGFR3	2261	broad.mit.edu	37	chr4	1808950	1808951	+	Frame_Shift_Ins	INS	-	-	C																															tgtttgcccacgacctgctgINScccccggccccacccagcag																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:1808950_1808951insC	ENST00000260795.2	+	17	2484_2485	c.2382_2383insC	c.(2383-2385)cccfs	p.P795fs	FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.A772fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.P795fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.P683fs|FGFR3_ENST00000340107.4_Frame_Shift_Ins_p.P797fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.P683fs			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	795					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.P795fs*139(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACGACCTGCTGCCCCCGGCCCC	0.688		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		1	Complex - frameshift(1)	p.P795fs*139(2)|p.L794fs*23(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2380-2385)ctgcccfs		Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	Palifermin(DB00039)																																			SO:0001589	frameshift_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808950_1808951insC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2387dupC	4.37:g.1808955_1808955dupC	ENSP00000260795:p.Pro795fs					FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs	p.L794fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		17	2638_2639	+		Breast(71;0.212)|all_epithelial(65;0.241)	794					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Ins	INS	ENST00000260795.2	37	c.2382_2383insC	CCDS3353.1																																																																																				0.688	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		C	1808951	-	C	1808950	7	5	52	1	0	1	1	0	0	0	0	0	5867	1306	46	0	2603	0	FGFR3	4	1808950	Frame_Shift_Ins	INS	-	TCGA-06-0644-01A-02D-1492-08		1808950	189345326	10	3251											
DRD5	1816	broad.mit.edu	37	chr4	9784011	9784011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgacgtctgggtggccttcGacatcatgtgctccactgcc	5	10	12	14	3	2	0	1	0	1	0	4	2	3	0	3	2	2	1	3	2	0	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:9784011G>A	ENST00000304374.2	+	1	754	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	120					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGTGGCCTTCGACATCATGTG	0.617																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(358-360)Gac>Aac		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52	50	51					4																	9784011		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784011G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.358G>A	4.37:g.9784011G>A	ENSP00000306129:p.Asp120Asn						p.D120N	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	754	+			120					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.358G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.573227	0.86542	.	.	ENSG00000169676	ENST00000304374	T	0.37752	1.18	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81632	-0.0845	10	0.87932	D	0	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	120	P21918	DRD5_HUMAN	N	120	ENSP00000306129:D120N	ENSP00000306129:D120N	D	+	1	0	DRD5	9393109	1.000000	0.71417	0.989000	0.46669	0.936000	0.57629	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	GAC		0.617	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9784011	G	A	9784011	3	1	52	1	0	0	0	0	1	0	0	0	4760	1058	37	2	360	2	DRD5	4	9784011	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	7975061	9784011	181370265	11	3252											
KIT	3815	broad.mit.edu	37	chr4	55561758	55561758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagacttaatagtccgcGtgggcgacgagattaggctg	11	9	13	8	4	1	2	1	0	0	2	2	4	2	2	1	2	0	1	1	2	4	3	rs200950545		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:55561758G>A	ENST00000288135.5	+	2	245	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	50	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V50M(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATAGTCCGCGTGGGCGACGA	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		2	Substitution - Missense(2)	p.V50M(4)	large_intestine(1)|central_nervous_system(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(148-150)Gtg>Atg		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						117	104	108					4																	55561758		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561758G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.148G>A	4.37:g.55561758G>A	ENSP00000288135:p.Val50Met					KIT_uc010igs.3_Missense_Mutation_p.V50M	p.V50M	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	1	235	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		50			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.148G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011355	0.19277	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.12465	2.68;2.68	5.19	4.28	0.50868	Immunoglobulin-like fold (1);	1.342190	0.05132	N	0.492744	T	0.11965	0.0291	N	0.17474	0.49	0.09310	N	1	P;P	0.52061	0.95;0.926	B;P	0.46685	0.273;0.524	T	0.10706	-1.0618	10	0.37606	T	0.19	.	5.8268	0.18558	0.0967:0.0:0.6994:0.2039	.	50;50	P10721-2;P10721	.;KIT_HUMAN	M	50	ENSP00000288135:V50M;ENSP00000390987:V50M	ENSP00000288135:V50M	V	+	1	0	KIT	55256515	0.026000	0.19158	0.006000	0.13384	0.001000	0.01503	2.646000	0.46630	2.706000	0.92434	0.650000	0.86243	GTG		0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55561758	G	A	55561758	3	1	52	1	0	0	0	0	1	0	0	0	8329	1145	40	1	154	1	KIT	4	55561758	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	45777747	55561758	135592518	12	3253											
SLC4A4	8671	broad.mit.edu	37	chr4	72338689	72338689	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgccacctgacccaggTgagggcattacgctttgtgt	6	12	13	10	1	0	2	0	2	0	0	0	2	0	2	3	2	2	2	3	2	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:72338689T>C	ENST00000264485.5	+	14	2020		c.e14+2		SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000512686.1_Silent_p.G591G|SLC4A4_ENST00000425175.1_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTGACCCAGGTGAGGGCATTA	0.463																																						uc010iic.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e14+2		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.							109	111	110					4																	72338689		2202	4299	6501	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338689T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+2T>C	4.37:g.72338689T>C						SLC4A4_uc003hfy.3_Splice_Site_p.A635_splice|SLC4A4_uc010iib.3_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.3_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.4_Splice_Site_p.A591_splice|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	p.A635_splice	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		14	2020	+			635					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37	c.1903_splice	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407184	0.83230	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3379	0.74273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72557553	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.989000	0.88205	2.027000	0.59764	0.482000	0.46254	.		0.463	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	C	72338689	T	C	72338689	5	2	52	1	0	0	0	0	0	0	1	0	14656	1710	59	4	2076	4	SLC4A4	4	72338689	Splice_Site	SNP	T	TCGA-06-0644-01A-02D-1492-08	16776931	72338689	118815587	13	3254											
NUDT9	53343	broad.mit.edu	37	chr4	88362984	88362984	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgtttttccagaaaTcctgcaggacggactggact	8	16	9	8	1	0	1	0	0	0	1	2	4	2	4	2	3	1	2	2	3	1	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:88362984T>C	ENST00000302174.4	+	4	771	c.447T>C	c.(445-447)aaT>aaC	p.N149N	NUDT9_ENST00000473942.1_Silent_p.N99N	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	149					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTTCCAGAAATCCTGCAGGAC	0.418																																						uc003hqq.3																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(445-447)aaT>aaC		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							40	43	42					4																	88362984		2203	4300	6503	SO:0001819	synonymous_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88362984T>C	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.447T>C	4.37:g.88362984T>C						NUDT9_uc010ikl.3_Silent_p.N117N|NUDT9_uc003hqr.3_Silent_p.N99N	p.N149N	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	3	777	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	149					Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	c.447T>C	CCDS3620.1																																																																																				0.418	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			C	88362984	T	C	88362984	2	2	52	1	0	0	0	0	0	0	0	1	10746	1432	50	4		4	NUDT9	4	88362984	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	16024295	88362984	102791292	14	3255											
PRDM9	56979	broad.mit.edu	37	chr5	23524499	23524499	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggccttccagtaccAcaggcagatcttctatagaa	10	10	9	12	0	2	2	0	0	2	2	3	2	3	2	4	3	1	2	4	3	4	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:23524499A>T	ENST00000296682.3	+	10	1189	c.1007A>T	c.(1006-1008)cAc>cTc	p.H336L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	336	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTCCAGTACCACAGGCAGATC	0.537										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1006-1008)cAc>cTc		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							67	69	68					5																	23524499		1895	4101	5996	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524499A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1007A>T	5.37:g.23524499A>T	ENSP00000296682:p.His336Leu	HNSCC(3;0.000094)					p.H336L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			9	1189	+			336			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1007A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840314	0.71488	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.41065	1.01	4.23	4.23	0.50019	SET domain (2);	.	.	.	.	T	0.30978	0.0782	L	0.28608	0.87	0.36972	D	0.893855	P	0.49185	0.92	B	0.41236	0.351	T	0.40156	-0.9578	9	0.72032	D	0.01	-18.9179	10.0182	0.42027	1.0:0.0:0.0:0.0	.	336	Q9NQV7	PRDM9_HUMAN	L	336;130	ENSP00000296682:H336L	ENSP00000253473:H130L	H	+	2	0	PRDM9	23560256	0.932000	0.31603	1.000000	0.80357	0.989000	0.77384	2.271000	0.43364	1.687000	0.51057	0.487000	0.48397	CAC		0.537	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23524499	A	T	23524499	3	4	52	1	0	0	0	0	1	0	0	0	12463	159	6	5	1041	5	PRDM9	5	23524499	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08		23524499	157390761	15	3256											
CDH9	1007	broad.mit.edu	37	chr5	26906907	26906907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactatttccatagttggcGtcatctgcatctgttgcagt	7	15	9	10	1	3	0	1	0	2	0	4	0	4	0	1	1	2	5	1	1	2	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:26906907G>A	ENST00000231021.4	-	4	736	c.564C>T	c.(562-564)gaC>gaT	p.D188D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGTTGGCGTCATCTGCAT	0.403																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(562-564)gaC>gaT		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							135	120	125					5																	26906907		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906907G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.564C>T	5.37:g.26906907G>A						CDH9_uc010iug.3_Silent_p.D188D	p.D188D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	733	-			188			Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.564C>T	CCDS3893.1																																																																																				0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26906907	G	A	26906907	2	1	52	1	0	0	0	0	0	0	0	1	3117	1136	40	1		1	CDH9	5	26906907	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	3382408	26906907	154008353	16	3257											
FBN2	2201	broad.mit.edu	37	chr5	127712445	127712445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtacagtaacgcccatttgGagccaagacaaatcctggtt	13	9	9	10	1	0	1	0	0	0	1	1	2	1	2	3	2	3	3	3	2	4	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:127712445G>C	ENST00000508053.1	-	20	2925	c.1951C>G	c.(1951-1953)Cca>Gca	p.P651A	FBN2_ENST00000262464.4_Missense_Mutation_p.P651A|FBN2_ENST00000508989.1_Missense_Mutation_p.P618A|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	651	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCCATTTGGAGCCAAGACA	0.398																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1951-1953)Cca>Gca		Homo sapiens fibrillin 2 (FBN2), mRNA.							238	204	215					5																	127712445		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127712445G>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1951C>G	5.37:g.127712445G>C	ENSP00000424571:p.Pro651Ala					FBN2_uc003kuv.2_Missense_Mutation_p.P618A	p.P651A	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	13	2390	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	651			EGF-like 9; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1951C>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915703	0.52546	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87571	-2.27;-2.27;-2.27	4.63	4.63	0.57726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.077984	0.52532	D	0.000066	D	0.85745	0.5768	N	0.20881	0.62	0.47862	D	0.999534	D;B	0.64830	0.994;0.399	P;B	0.59056	0.851;0.301	D	0.84347	0.0530	10	0.40728	T	0.16	.	12.1908	0.54270	0.0792:0.0:0.9208:0.0	.	618;651	D6RJI3;P35556	.;FBN2_HUMAN	A	651;651;618	ENSP00000262464:P651A;ENSP00000424571:P651A;ENSP00000425596:P618A	ENSP00000262464:P651A	P	-	1	0	FBN2	127740344	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.450000	0.35134	2.865000	0.98341	0.655000	0.94253	CCA		0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		C	127712445	G	C	127712445	3	2	52	1	0	0	0	0	1	0	0	0	5703	1174	41	5	6995	5	FBN2	5	127712445	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	100805538	127712445	53202815	17	3258											
PCDHB11	56125	broad.mit.edu	37	chr5	140580521	140580521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaagacctcccattcGtgctaaaatcttcagttgag	10	12	8	11	2	2	2	1	1	1	1	5	3	4	3	3	1	1	2	3	1	3	5	rs201835076		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:140580521G>A	ENST00000354757.3	+	1	1174	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	PCDHB11_ENST00000536699.1_Missense_Mutation_p.V27M	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V392M(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCATTCGTGCTAAAATC	0.453																																						uc003liy.3																			1	Substitution - Missense(1)	p.V392M(2)	large_intestine(1)	NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1174-1176)Gtg>Atg		Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.							115	115	115					5																	140580521		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580521G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1174G>A	5.37:g.140580521G>A	ENSP00000346802:p.Val392Met						p.V392M	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1174	+			392			Cadherin 4.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1174G>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853054	0.32699	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.60672	0.17;4.64	2.52	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48554	0.1506	L	0.53617	1.68	0.09310	N	1	P	0.39940	0.696	B	0.42343	0.384	T	0.46843	-0.9162	9	0.51188	T	0.08	.	6.0648	0.19858	0.2939:0.3788:0.3273:0.0	.	392	Q9Y5F2	PCDBB_HUMAN	M	27;392;80	ENSP00000440344:V27M;ENSP00000346802:V392M	ENSP00000346802:V392M	V	+	1	0	PCDHB11	140560705	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-6.600000	0.00060	-1.295000	0.02357	0.306000	0.20318	GTG		0.453	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		A	140580521	G	A	140580521	3	1	52	1	0	0	0	0	1	0	0	0	11536	1145	40	1	1176	1	PCDHB11	5	140580521	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	12868076	140580521	40334739	18	3259											
PRSS16	10279	broad.mit.edu	37	chr6	27219612	27219612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagcagcattgcggacGgagctgagcgcttgcgggcc	7	6	16	12	4	1	1	1	1	0	0	1	3	1	3	1	3	6	5	1	3	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:27219612G>A	ENST00000230582.3	+	8	816	c.801G>A	c.(799-801)acG>acA	p.T267T	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	267					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATTGCGGACGGAGCTGAGCG	0.697																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(799-801)acG>acA		Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.							19	25	23					6																	27219612		2185	4276	6461	SO:0001819	synonymous_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219612G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.801G>A	6.37:g.27219612G>A						PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	p.T267T	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			7	816	+			267					O75416	Silent	SNP	ENST00000230582.3	37	c.801G>A	CCDS4623.1																																																																																				0.697	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			A	27219612	G	A	27219612	2	1	52	1	0	0	0	0	0	0	0	1	12616	1103	39	2		2	PRSS16	6	27219612	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		27219612	143895455	19	3260											
PIM1	5292	broad.mit.edu	37	chr6	37138555	37138557	+	In_Frame_Del	DEL	AGA	AGA	-																															tccccctttcctaggcaaggAgaaggagcccctggagtcgc																								rs537732412		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:37138555_37138557delAGA	ENST00000373509.5	+	2	462_464	c.89_91delAGA	c.(88-93)gagaag>gag	p.K31del		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	122					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTAGGCAAGGAGAAGGAGCCCCT	0.714			T	BCL6	NHL																																	uc003onk.3				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(88-93)gagaag>gag		Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)																																			SO:0001651	inframe_deletion	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138555_37138557delAGA		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.89_91delAGA	6.37:g.37138555_37138557delAGA	ENSP00000362608:p.Lys31del					PIM1_uc011dtw.2_5'Flank	p.K31del	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		1	519_521	+			122					Q38RT9|Q5T7H7|Q96RG3	In_Frame_Del	DEL	ENST00000373509.5	37	c.89_91delAGA	CCDS4830.1																																																																																				0.714	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			-	37138557	AGA	-	37138555	7	5	52	1	0	1	0	1	0	0	0	0	11927	304	11	0	95	0	PIM1	6	37138555	In_Frame_Del	DEL	AGA	TCGA-06-0644-01A-02D-1492-08	9918943	37138555	133976512	20	3261											
KCNK5	8645	broad.mit.edu	37	chr6	39162433	39162433	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtcccccgaagaacttGcccagggcactgatccacgt	9	6	10	16	3	0	2	0	1	0	1	2	3	2	2	4	1	2	2	4	1	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:39162433G>T	ENST00000359534.3	-	3	740	c.402C>A	c.(400-402)ggC>ggA	p.G134G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	134					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGAACTTGCCCAGGGCAC	0.597																																						uc003oon.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(400-402)ggC>ggA		Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.							122	111	115					6																	39162433		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162433G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.402C>A	6.37:g.39162433G>T							p.G134G	NM_003740	NP_003731	O95279	KCNK5_HUMAN			2	766	-			134					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.402C>A	CCDS4841.1																																																																																				0.597	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		T	39162433	G	T	39162433	2	4	52	1	0	0	0	0	0	0	0	1	8069	1306	46	5		5	KCNK5	6	39162433	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	2023878	39162433	131952634	21	3262											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	6	13	7	15	3	2	2	0	2	2	0	5	3	3	3	5	1	1	1	5	1	1	3	rs200719637		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																						uc003pli.3																			2	Substitution - Missense(2)	p.V146I(4)	large_intestine(1)|endometrium(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(436-438)Gtc>Atc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	Eletriptan(DB00216)						108	94	99					6																	87725488		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725488G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile					HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	1	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	146					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.436G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		A	87725488	G	A	87725488	3	1	52	1	0	0	0	0	1	0	0	0	7439	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	48563055	87725488	83389579	22	3263											
PTPRK	5796	broad.mit.edu	37	chr6	128319982	128319982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctggtaaggggattccgtCccctcacagaggtagcgagg	8	8	15	10	2	2	1	1	0	1	1	4	3	4	2	3	5	1	2	3	5	2	3	rs141454620		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:128319982C>T	ENST00000368215.3	-	16	2558	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	PTPRK_ENST00000524481.1_5'Flank|PTPRK_ENST00000532331.1_Silent_p.G870G|PTPRK_ENST00000368207.3_Silent_p.G880G|PTPRK_ENST00000368226.4_Silent_p.G854G|PTPRK_ENST00000368213.5_Silent_p.G854G|PTPRK_ENST00000368210.3_Silent_p.G866G|PTPRK_ENST00000368227.3_Silent_p.G866G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	853					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGATTCCGTCCCCTCACAGA	0.478																																						uc003qbk.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2557-2559)ggG>ggA		Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.							118	100	106					6																	128319982		2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128319982C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2559G>A	6.37:g.128319982C>T						PTPRK_uc010kfc.3_Silent_p.G854G|PTPRK_uc003qbj.3_Silent_p.G854G|PTPRK_uc011ebu.2_Silent_p.G870G|PTPRK_uc010kfd.1_Silent_p.G79G	p.G853G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	15	2926	-			853					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.2559G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.559	1.117932	0.20877	.	.	ENSG00000152894	ENST00000415046	T	0.05855	3.38	5.75	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50056	-0.8872	7	0.31617	T	0.26	.	3.148	0.06478	0.1244:0.4812:0.2459:0.1485	.	.	.	.	E	147	ENSP00000406825:G147E	ENSP00000406825:G147E	G	-	2	0	PTPRK	128361675	0.994000	0.37717	0.998000	0.56505	0.966000	0.64601	0.369000	0.20416	0.722000	0.32252	0.650000	0.86243	GGA		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			T	128319982	C	T	128319982	2	4	52	1	0	0	0	0	0	0	0	1	12805	842	30	3		3	PTPRK	6	128319982	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	40594494	128319982	42795085	23	3264											
SKAP2	8935	broad.mit.edu	37	chr7	26766511	26766511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactacaacctgatatataCgtttatcaggagcagagatt	16	11	7	7	1	1	2	1	1	0	1	1	4	1	3	1	1	5	2	1	1	7	7	rs199985669		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:26766511C>T	ENST00000345317.2	-	7	897	c.584G>A	c.(583-585)cGt>cAt	p.R195H	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.R23H	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	195	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R195H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTGATATATACGTTTATCAGG	0.303													C|||	1	0.000199681	0	0	5008	,	,		16406	0.001		0	False		,,,				2504	0					uc003syc.3																			1	Substitution - Missense(1)	p.R195H(2)|p.R195G(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(583-585)cGt>cAt		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							93	86	88					7																	26766511		2202	4299	6501	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26766511C>T		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.584G>A	7.37:g.26766511C>T	ENSP00000005587:p.Arg195His					SKAP2_uc011jzi.2_Missense_Mutation_p.R23H|SKAP2_uc011jzj.2_Missense_Mutation_p.R180H	p.R195H	NM_003930	NP_003921	O75563	SKAP2_HUMAN			6	877	-			195			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.584G>A	CCDS5400.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.1	4.377223	0.82682	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.17691	2.26;2.26	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58188	-0.7680	10	0.66056	D	0.02	-16.3262	19.921	0.97085	0.0:1.0:0.0:0.0	.	180;195	B7Z5N4;O75563	.;SKAP2_HUMAN	H	195;23;180	ENSP00000005587:R195H;ENSP00000443593:R23H	ENSP00000005587:R195H	R	-	2	0	SKAP2	26733036	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.484000	0.81180	2.712000	0.92718	0.644000	0.83932	CGT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			T	26766511	C	T	26766511	3	4	52	1	0	0	0	0	1	0	0	0	14356	536	19	1	519	1	SKAP2	7	26766511	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		26766511	132372152	24	3265											
TXNDC3	51314	broad.mit.edu	37	chr7	37901681	37901682	+	Frame_Shift_Ins	INS	-	-	C																															aaatgcaccgcttgttaataINSaaaaagttattaatttgatc																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:37901681_37901682insC	ENST00000199447.4	+	7	694_695	c.322_323insC	c.(322-324)aaafs	p.K108fs	NME8_ENST00000440017.1_Frame_Shift_Ins_p.K108fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	108	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCTTGTTAATAAAAAAGTTATT	0.376																																						uc003tfn.3																			0											c.(322-324)aaafs		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.																																				SO:0001589	frameshift_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37901681_37901682insC	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	Exception_encountered	7.37:g.37901681_37901682insC	ENSP00000199447:p.Lys108fs						p.K108fs	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			6	694_695	+			108			Thioredoxin.		Q9NZH1	Frame_Shift_Ins	INS	ENST00000199447.4	37	c.322_323insC	CCDS5452.1																																																																																				0.376	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		C	37901682	-	C	37901681	7	5	52	1	0	1	1	0	0	0	0	0	16795	363	13	0	340	0	TXNDC3	7	37901681	Frame_Shift_Ins	INS	-	TCGA-06-0644-01A-02D-1492-08	11135170	37901681	121236982	25	3266											
GRB10	2887	broad.mit.edu	37	chr7	50660761	50660761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttggtgttcccgtcaTctaggctgaagaacgtctgc	9	12	11	9	2	3	3	1	1	2	2	4	3	4	3	1	2	2	2	1	2	4	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:50660761T>C	ENST00000401949.1	-	19	2142	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRB10_ENST00000357271.5_Missense_Mutation_p.D512G|GRB10_ENST00000402578.1_Missense_Mutation_p.D500G|GRB10_ENST00000439599.1_Missense_Mutation_p.D552G|GRB10_ENST00000407526.1_Missense_Mutation_p.D500G|GRB10_ENST00000406641.1_Missense_Mutation_p.D500G|GRB10_ENST00000402497.1_Missense_Mutation_p.D500G|GRB10_ENST00000335866.3_Missense_Mutation_p.D500G|GRB10_ENST00000403097.1_Missense_Mutation_p.D552G|GRB10_ENST00000398810.2_Missense_Mutation_p.D500G|GRB10_ENST00000398812.2_Missense_Mutation_p.D558G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	558	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		D -> H (in dbSNP:rs11768472).		insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTTCCCGTCATCTAGGCTGAA	0.547									Russell-Silver syndrome																													uc003tpi.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1672-1674)gAt>gGt		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							127	129	128					7																	50660761		2083	4203	6286	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50660761T>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1673A>G	7.37:g.50660761T>C	ENSP00000385770:p.Asp558Gly					GRB10_uc003tph.3_Missense_Mutation_p.D500G|GRB10_uc003tpj.2_Missense_Mutation_p.D512G|GRB10_uc003tpk.2_Missense_Mutation_p.D558G|GRB10_uc010kzb.2_Missense_Mutation_p.D500G|GRB10_uc003tpl.2_Missense_Mutation_p.D552G|GRB10_uc003tpm.2_Missense_Mutation_p.D500G	p.D558G	NM_005311	NP_005302	Q13322	GRB10_HUMAN			15	1719	-	Glioma(55;0.08)|all_neural(89;0.245)		558		D -> H (in dbSNP:rs11768472).	SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1673A>G	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.840000	0.91117	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.88	5.88	0.94601	SH2 motif (4);	0.043795	0.85682	N	0.000000	T	0.61413	0.2345	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63747	-0.6567	10	0.87932	D	0	-32.653	16.2879	0.82732	0.0:0.0:0.0:1.0	.	552;512;558	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	558;552;500;500;500;552;500;512;500;558;90;500	ENSP00000381793:D558G;ENSP00000406716:D552G;ENSP00000338543:D500G;ENSP00000381790:D500G;ENSP00000385189:D500G;ENSP00000385544:D552G;ENSP00000385366:D500G;ENSP00000349818:D512G;ENSP00000385046:D500G;ENSP00000385770:D558G;ENSP00000385748:D500G	ENSP00000338543:D500G	D	-	2	0	GRB10	50628255	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	8.040000	0.89188	2.242000	0.73789	0.533000	0.62120	GAT		0.547	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			C	50660761	T	C	50660761	3	2	52	1	0	0	0	0	1	0	0	0	6756	1435	50	4	115	4	GRB10	7	50660761	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08	12759080	50660761	108477902	26	3267											
PCLO	27445	broad.mit.edu	37	chr7	82544904	82544904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaagctctctgtccctctaCgaaattcctgtttaatctga	9	15	5	12	1	3	1	0	1	3	0	6	2	5	1	2	0	2	2	2	0	4	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:82544904C>T	ENST00000333891.9	-	7	12735	c.12398G>A	c.(12397-12399)cGt>cAt	p.R4133H	PCLO_ENST00000423517.2_Missense_Mutation_p.R4133H|PCLO_ENST00000437081.1_Missense_Mutation_p.R853H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCCCTCTACGAAATTCCTG	0.408																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12397-12399)cGt>cAt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							100	95	96					7																	82544904		1883	4112	5995	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544904C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12398G>A	7.37:g.82544904C>T	ENSP00000334319:p.Arg4133His					PCLO_uc003uhv.2_Missense_Mutation_p.R4133H|PCLO_uc010lec.3_Missense_Mutation_p.R1098H	p.R4133H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	12687	-			4064						Missense_Mutation	SNP	ENST00000333891.9	37	c.12398G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239042	0.39598	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18657	2.2;2.2	5.57	5.57	0.84162	.	.	.	.	.	T	0.41050	0.1142	L	0.40543	1.245	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.959;0.992;0.992	T	0.17837	-1.0356	9	0.87932	D	0	.	19.5537	0.95331	0.0:1.0:0.0:0.0	.	4064;4133;4133	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	4133;4133;853	ENSP00000334319:R4133H;ENSP00000388393:R4133H	ENSP00000334319:R4133H	R	-	2	0	PCLO	82382840	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.614000	0.88457	0.557000	0.71058	CGT		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82544904	C	T	82544904	3	4	52	1	0	0	0	0	1	0	0	0	11583	536	19	1	3123	1	PCLO	7	82544904	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	31884143	82544904	76593759	27	3268											
ABCB4	5244	broad.mit.edu	37	chr7	87083895	87083895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctggatttagcagcgaCaaggaaaagttcactaaatt	14	11	9	7	1	1	0	1	0	0	0	1	3	1	2	1	2	3	2	1	2	6	6			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:87083895C>T	ENST00000265723.4	-	5	411	c.300G>A	c.(298-300)ttG>ttA	p.L100L	ABCB4_ENST00000358400.3_Silent_p.L100L|ABCB4_ENST00000359206.3_Silent_p.L100L|ABCB4_ENST00000545634.1_Silent_p.L100L|ABCB4_ENST00000453593.1_Silent_p.L100L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	100	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTAGCAGCGACAAGGAAAAGT	0.259																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(298-300)ttG>ttA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							38	41	40					7																	87083895		2202	4294	6496	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87083895C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.300G>A	7.37:g.87083895C>T						ABCB4_uc003uiw.1_Silent_p.L100L|ABCB4_uc003uix.1_Silent_p.L100L|ABCB4_uc003uiy.3_Silent_p.L100L	p.L100L	NM_018849	NP_061337	P21439	MDR3_HUMAN			4	376	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		100			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.300G>A	CCDS5606.1																																																																																				0.259	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87083895	C	T	87083895	2	4	52	1	0	0	0	0	0	0	0	1	43	477	17	3		3	ABCB4	7	87083895	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	4538991	87083895	72054768	28	3269											
RELN	5649	broad.mit.edu	37	chr7	103137114	103137114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctgccaccagcgaagtcGagttgtgttggtgagggcat	8	9	16	8	2	0	1	0	1	0	0	1	3	0	1	2	3	2	4	2	3	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:103137114G>A	ENST00000428762.1	-	56	9211	c.9052C>T	c.(9052-9054)Cga>Tga	p.R3018*	RELN_ENST00000424685.2_Nonsense_Mutation_p.R3018*|RELN_ENST00000343529.5_Nonsense_Mutation_p.R3018*|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3018					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCGAAGTCGAGTTGTGTTG	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9052-9054)Cga>Tga		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							120	102	108					7																	103137114		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103137114G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9052C>T	7.37:g.103137114G>A	ENSP00000392423:p.Arg3018*					RELN_uc022ajq.1_Nonsense_Mutation_p.R3018*|RELN_uc010liz.3_Nonsense_Mutation_p.R3018*	p.R3018*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9212	-			3018					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.9052C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	51	18.513130	0.99906	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.94	3.04	0.35103	.	0.123452	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8538	0.52425	0.0:0.1196:0.6317:0.2487	.	.	.	.	X	3018;3018;3018;535;3018	.	ENSP00000345694:R3018X	R	-	1	2	RELN	102924350	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	5.285000	0.65633	0.352000	0.24053	0.650000	0.86243	CGA		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103137114	G	A	103137114	4	1	52	1	0	0	0	0	0	1	0	0	13220	1066	37	2	1370	2	RELN	7	103137114	Nonsense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	16053219	103137114	56001549	29	3270											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	52	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08	37316022	140453136	18685527	30	3271											
WDR86	349136	broad.mit.edu	37	chr7	151093239	151093239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccagacccgagctgtccGgtcataggagctgctgaaga	10	7	12	12	2	1	3	1	1	0	2	3	5	3	4	3	2	3	3	3	2	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:151093239G>A	ENST00000334493.6	-	3	779	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	WDR86_ENST00000469830.2_Missense_Mutation_p.R117W|WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000463000.1_5'Flank	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	117										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGTCCGGTCATAGGAG	0.627																																						uc011kvk.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(349-351)Cgg>Tgg		Homo sapiens WD repeat domain 86 (WDR86), mRNA.							34	38	37					7																	151093239		2128	4249	6377	SO:0001583	missense	349136							g.chr7:151093239G>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"WD repeat domain containing"	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.349C>T	7.37:g.151093239G>A	ENSP00000335522:p.Arg117Trp					WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc003wkb.2_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR	p.R117W			Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	798	-			117					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.349C>T	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207560	0.58343	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.61742	0.08;0.08	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.72301	0.3443	M	0.71036	2.16	0.36756	D	0.883026	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.77376	-0.2611	8	.	.	.	-27.1387	11.0175	0.47698	0.0:0.0:0.6997:0.3003	.	117;117;75	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	W	117	ENSP00000335522:R117W;ENSP00000419162:R117W	.	R	-	1	2	WDR86	150724172	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	3.345000	0.52182	2.254000	0.74563	0.313000	0.20887	CGG		0.627	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		A	151093239	G	A	151093239	3	1	52	1	0	0	0	0	1	0	0	0	17331	1115	39	2	797	2	WDR86	7	151093239	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	10640103	151093239	8045424	31	3272											
RIMS2	9699	broad.mit.edu	37	chr8	104709403	104709403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaacagaagggtgatgCgccaacctgtggtatctgcc	11	7	13	10	1	1	3	0	1	1	2	1	3	1	3	3	2	4	2	3	2	5	1	rs372575949		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr8:104709403C>T	ENST00000406091.3	+	2	266	c.266C>T	c.(265-267)gCg>gTg	p.A89V		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	120	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGGTGATGCGCCAACCTGT	0.438										HNSCC(12;0.0054)																												uc003ylp.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(265-267)gCg>gTg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.							150	151	151					8																	104709403		1993	4157	6150	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709403C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.266C>T	8.37:g.104709403C>T	ENSP00000384892:p.Ala89Val	HNSCC(12;0.0054)					p.A89V	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	405	+			120			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.266C>T	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405839	0.96051	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.38401	1.14;1.14	5.72	5.72	0.89469	.	.	.	.	.	T	0.58878	0.2153	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.55438	-0.8141	9	0.48119	T	0.1	.	19.9379	0.97147	0.0:1.0:0.0:0.0	.	89	F8WD47	.	V	89;120;89;120	ENSP00000427018:A89V;ENSP00000384892:A89V	ENSP00000332184:A120V	A	+	2	0	RIMS2	104778579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.710000	0.92621	0.556000	0.70494	GCG		0.438	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		T	104709403	C	T	104709403	3	4	52	1	0	0	0	0	1	0	0	0	13368	768	27	1	272	1	RIMS2	8	104709403	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		104709403	41654619	32	3273											
PRSS3	5646	broad.mit.edu	37	chr9	33798043	33798043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagctgctggcactgagtgCctcatctccggctggggcaa	6	8	13	14	1	2	1	1	1	1	0	3	1	2	1	3	4	3	5	3	4	1	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:33798043C>T	ENST00000361005.5	+	3	588	c.588C>T	c.(586-588)tgC>tgT	p.C196C	PRSS3_ENST00000379405.3_Silent_p.C139C|PRSS3_ENST00000429677.3_Silent_p.C132C|PRSS3_ENST00000342836.4_Silent_p.C153C|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	196	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCACTGAGTGCCTCATCTCCG	0.567																																						uc003ztj.4																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(586-588)tgC>tgT		Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.							158	125	136					9																	33798043		2203	4300	6503	SO:0001819	synonymous_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33798043C>T		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.588C>T	9.37:g.33798043C>T						PRSS3_uc003zti.4_Silent_p.C153C|PRSS3_uc022bfu.1_Silent_p.C132C|PRSS3_uc003ztl.4_Silent_p.C139C	p.C196C	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	639	+			196			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	c.588C>T	CCDS47958.1																																																																																				0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		T	33798043	C	T	33798043	2	4	52	1	0	0	0	0	0	0	0	1	12622	747	26	3		3	PRSS3	9	33798043	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		33798043	107415388	33	3274											
SLC46A2	57864	broad.mit.edu	37	chr9	115652489	115652489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccagcgatcccagcGccatgaccccggaccagaag	11	2	12	16	3	0	2	0	1	0	1	1	5	1	4	6	2	3	0	6	2	1	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:115652489G>A	ENST00000374228.4	-	1	704	c.473C>T	c.(472-474)gCg>gTg	p.A158V		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	158					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGATCCCAGCGCCATGACCCC	0.682																																						uc004bgk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(472-474)gCg>gTg		Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.							16	22	20					9																	115652489		2196	4293	6489	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652489G>A	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.473C>T	9.37:g.115652489G>A	ENSP00000363345:p.Ala158Val						p.A158V	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			0	705	-			158					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.473C>T	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333248	0.95758	.	.	ENSG00000119457	ENST00000374228	T	0.63417	-0.04	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);	0.206907	0.51477	D	0.000097	T	0.74824	0.3767	M	0.61703	1.905	0.58432	D	0.999999	D	0.67145	0.996	P	0.58780	0.845	T	0.77216	-0.2669	10	0.72032	D	0.01	-25.7624	18.9316	0.92568	0.0:0.0:1.0:0.0	.	158	Q9BY10	TSCOT_HUMAN	V	158	ENSP00000363345:A158V	ENSP00000363345:A158V	A	-	2	0	SLC46A2	114692310	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.759000	0.98931	2.564000	0.86499	0.549000	0.68633	GCG		0.682	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		A	115652489	G	A	115652489	3	1	52	1	0	0	0	0	1	0	0	0	14645	1087	38	1	970	1	SLC46A2	9	115652489	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	81854446	115652489	25560942	34	3275											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	3	18	10	10	2	3	0	0	0	3	0	6	1	4	0	2	1	0	3	2	1	1	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517																																						uc011lyx.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(709-711)cGc>cAc		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							252	239	243					9																	125316158		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316158G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His						p.R237H	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			0	710	+			237		R -> C (in dbSNP:rs41316976).			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.710G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			A	125316158	G	A	125316158	3	1	52	1	0	0	0	0	1	0	0	0	10970	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	9663669	125316158	15897273	35	3276											
COL5A1	1289	broad.mit.edu	37	chr9	137622156	137622156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggaaggaagaggacgtCggcatcggggactatgacta	11	6	17	7	3	0	2	0	1	0	1	2	6	0	6	0	6	0	2	0	6	4	2	rs138702819	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:137622156C>T	ENST00000371817.3	+	7	1413	c.999C>T	c.(997-999)gtC>gtT	p.V333V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	333	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGACGTCGGCATCGGGG	0.622													c|||	3	0.000599042	0.0015	0	5008	,	,		18319	0		0	False		,,,				2504	0.001					uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(997-999)gtC>gtT		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.		T		4,4402	8.1+/-20.4	0,4,2199	132	125	127		999	-9	0	9	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		333/1839	137622156	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622156C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.999C>T	9.37:g.137622156C>T							p.V333V	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1381	+		Myeloproliferative disorder(178;0.0341)	333			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.999C>T	CCDS6982.1																																																																																				0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137622156	C	T	137622156	2	4	52	1	0	0	0	0	0	0	0	1	3696	871	31	2		2	COL5A1	9	137622156	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	12305998	137622156	3591275	36	3277											
RBP3	5949	broad.mit.edu	37	chr10	48389546	48389546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgtcagcaaaactatcGaagcgcaggtagcccacatt	13	6	11	11	3	1	0	1	0	0	0	2	2	1	0	1	2	4	3	1	2	5	3	rs200626545		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:48389546G>A	ENST00000224600.4	-	1	1445	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	444	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.F444F(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAAACTATCGAAGCGCAGGT	0.617																																						uc001jez.3																			1	Substitution - coding silent(1)	p.F444F(2)	lung(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1330-1332)ttC>ttT		Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	Vitamin A(DB00162)						68	59	62					10																	48389546		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389546G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1332C>T	10.37:g.48389546G>A							p.F444F	NM_002900	NP_002891	P10745	RET3_HUMAN			0	1446	-			444			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1332C>T	CCDS7218.1																																																																																				0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		A	48389546	G	A	48389546	2	1	52	1	0	0	0	0	0	0	0	1	13157	1049	37	2		2	RBP3	10	48389546	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		48389546	87145201	37	3278											
PTEN	5728	broad.mit.edu	37	chr10	89711988	89711989	+	Frame_Shift_Del	DEL	TA	TA	-																															cacaagatgatgtttgaaacTattccaatgttcagtggcgg																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:89711988_89711989delTA	ENST00000371953.3	+	6	1963_1964	c.606_607delTA	c.(604-609)actattfs	p.I203fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	203	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.I203fs*39(1)|p.G165_*404del(1)|p.I203fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTGAAACTATTCCAATGTT	0.371		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.I203fs*39(2)|p.Y27fs*1(2)|p.I203fs*18(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.G165_*404del(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(604-609)actattfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711988_89711989delTA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.606_607delTA	10.37:g.89711988_89711989delTA	ENSP00000361021:p.Ile203fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T202fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1638_1639	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	202			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.606_607delTA	CCDS31238.1																																																																																				0.371	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711989	TA	-	89711988	7	5	52	1	0	1	0	1	0	0	0	0	12738	1509	53	0	628	0	PTEN	10	89711988	Frame_Shift_Del	DEL	TA	TCGA-06-0644-01A-02D-1492-08	41322442	89711988	45822759	38	3279											
CTBP2	1488	broad.mit.edu	37	chr10	126691658	126691658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacatcatggcgcccaCggcttcgtttagaacctgcg	7	10	12	12	4	1	1	1	0	0	1	2	1	1	1	2	3	3	3	2	3	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:126691658C>T	ENST00000337195.5	-	5	628	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	CTBP2_ENST00000531469.1_Missense_Mutation_p.V77M|CTBP2_ENST00000334808.6_Missense_Mutation_p.V145M|CTBP2_ENST00000411419.2_Missense_Mutation_p.V77M|CTBP2_ENST00000309035.6_Missense_Mutation_p.V617M|CTBP2_ENST00000494626.2_Missense_Mutation_p.V77M	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	77					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGGCGCCCACGGCTTCGTTT	0.627																																						uc009yak.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(229-231)Gtg>Atg		Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.							74	60	65					10																	126691658		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126691658C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.229G>A	10.37:g.126691658C>T	ENSP00000338615:p.Val77Met					CTBP2_uc009yal.3_Missense_Mutation_p.V77M|CTBP2_uc001lif.4_Missense_Mutation_p.V77M|CTBP2_uc001lih.4_Missense_Mutation_p.V77M|CTBP2_uc001lid.4_Missense_Mutation_p.V145M|CTBP2_uc001lie.4_Missense_Mutation_p.V617M	p.V77M	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	4	516	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	77					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.229G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662409	0.67700	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	4.68	4.68	0.58851	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64410	0.799;0.925;0.799	T	0.77067	-0.2725	10	0.66056	D	0.02	.	17.9557	0.89068	0.0:1.0:0.0:0.0	.	77;617;145	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	M	77;617;145;77;77;77	ENSP00000338615:V77M;ENSP00000311825:V617M;ENSP00000357816:V145M;ENSP00000434630:V77M;ENSP00000436285:V77M;ENSP00000410474:V77M	ENSP00000311825:V617M	V	-	1	0	CTBP2	126681648	1.000000	0.71417	0.624000	0.29186	0.198000	0.23893	7.818000	0.86416	2.317000	0.78254	0.561000	0.74099	GTG		0.627	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		T	126691658	C	T	126691658	3	4	52	1	0	0	0	0	1	0	0	0	3998	536	19	1	1136	1	CTBP2	10	126691658	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	36979670	126691658	8843089	39	3280											
OR5M9	390162	broad.mit.edu	37	chr11	56230656	56230656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcattttgggggtaacGttggaggagaagcacacgtc	10	9	14	8	2	0	1	0	0	0	1	2	3	1	2	1	4	3	4	1	4	2	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr11:56230656G>A	ENST00000279791.1	-	1	221	c.222C>T	c.(220-222)aaC>aaT	p.N74N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGGGGTAACGTTGGAGGAGA	0.438																																						uc010rjj.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(220-222)aaC>aaT		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.							86	88	87					11																	56230656		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230656G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.222C>T	11.37:g.56230656G>A						OR8U8_uc001nit.2_Intron	p.N74N	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	222	-	Esophageal squamous(21;0.00448)		74					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.222C>T	CCDS31531.1																																																																																				0.438	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		A	56230656	G	A	56230656	2	1	52	1	0	0	0	0	0	0	0	1	11177	1136	40	1		1	OR5M9	11	56230656	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		56230656	78775860	40	3281											
B4GALNT3	283358	broad.mit.edu	37	chr12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcctcttccagtggCgacggaacgaccctggagcc	6	9	10	16	3	3	0	0	0	3	0	6	4	4	2	4	3	2	0	4	3	1	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582																																						uc001qii.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(790-792)Cga>Tga		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.							127	99	109					12																	657400		2203	4300	6503	SO:0001587	stop_gained	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657400C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.790C>T	12.37:g.657400C>T	ENSP00000266383:p.Arg264*					B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	p.R264*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		8	790	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		264					Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	37	c.790C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	B4GALNT3	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA		0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	657400	C	T	657400	4	4	52	1	0	0	0	0	0	1	0	0	1268	760	27	1	824	1	B4GALNT3	12	657400	Nonsense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		657400	133194495	41	3282											
CHD4	1108	broad.mit.edu	37	chr12	6691851	6691851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtaaaagcatcctgaggtgGcataccatatcgcataattg	14	10	9	8	1	0	1	0	1	0	0	2	1	1	1	2	2	2	4	2	2	5	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:6691851G>A	ENST00000357008.2	-	29	4463	c.4300C>T	c.(4300-4302)Cca>Tca	p.P1434S	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Missense_Mutation_p.P1462S|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.P1427S|CHD4_ENST00000544484.1_Missense_Mutation_p.P1459S|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1434					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCTGAGGTGGCATACCATAT	0.473																																					Colon(32;586 792 4568 16848 45314)	uc001qpq.1																			0											c.(52-54)tgG>tgA		Homo sapiens cDNA FLJ39076 fis, clone NT2RP7017567.							157	161	160					12																	6691851		2203	4300	6503	SO:0001583	missense	1108							g.chr12:6691851G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4300C>T	12.37:g.6691851G>A	ENSP00000349508:p.Pro1434Ser					CHD4_uc001qpn.3_Missense_Mutation_p.P1427S|CHD4_uc001qpo.3_Missense_Mutation_p.P1434S|CHD4_uc001qpp.3_Missense_Mutation_p.P1459S|SCARNA11_uc001qpr.1_5'Flank	p.W18*							1	142	+								Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.54G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871770	0.72180	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93366	-3.21;-2.94;-3.21;-2.93	5.64	5.64	0.86602	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.80847	2.515	0.80722	D	1	P;P;D	0.67145	0.945;0.786;0.996	P;P;D	0.78314	0.641;0.685;0.991	D	0.97011	0.9736	10	0.72032	D	0.01	-4.1915	19.7156	0.96119	0.0:0.0:1.0:0.0	.	1462;1434;1427	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	1459;1427;1462;1434;1408	ENSP00000440392:P1459S;ENSP00000440542:P1427S;ENSP00000312419:P1462S;ENSP00000349508:P1434S	ENSP00000312419:P1462S	P	-	1	0	CHD4	6562112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.441000	0.97557	2.658000	0.90341	0.655000	0.94253	CCA		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6691851	G	A	6691851	3	1	52	1	0	0	0	0	1	0	0	0	3327	1203	42	3	1486	3	CHD4	12	6691851	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	6034451	6691851	127160044	42	3283											
PIK3C2G	5288	broad.mit.edu	37	chr12	18716419	18716419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagcagtttgcatcaCtgactctcccagagtaaggc	11	10	9	11	0	3	3	2	1	1	2	4	3	3	3	1	1	2	4	1	1	2	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:18716419C>T	ENST00000266497.5	+	26	3804	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	PIK3C2G_ENST00000433979.1_Silent_p.L1256L|PIK3C2G_ENST00000538779.1_Silent_p.L1297L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1256	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTTGCATCACTGACTCTCCC	0.398																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3766-3768)Ctg>Ttg		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							74	71	72					12																	18716419		1895	4128	6023	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18716419C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3766C>T	12.37:g.18716419C>T						PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1297L|PIK3C2G_uc010sic.2_Silent_p.L1075L	p.L1256L	NM_004570	NP_004561	O75747	P3C2G_HUMAN			26	3882	+		Hepatocellular(102;0.194)	1256			PX.		A1L3U0	Silent	SNP	ENST00000266497.5	37	c.3766C>T	CCDS44839.1																																																																																				0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18716419	C	T	18716419	2	4	52	1	0	0	0	0	0	0	0	1	11911	564	20	3		3	PIK3C2G	12	18716419	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	12024568	18716419	115135476	43	3284											
PDE3A	5139	broad.mit.edu	37	chr12	20522696	20522696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggggtgcgcctgcctctgGctgtcgcgctgctggccgcc	0	8	16	17	5	1	0	0	0	1	0	2	0	1	0	5	4	3	3	5	4	0	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:20522696G>A	ENST00000359062.3	+	1	518	c.478G>A	c.(478-480)Gct>Act	p.A160T	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	160					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTGCCTCTGGCTGTCGCGCT	0.701																																						uc001reh.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(478-480)Gct>Act		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						15	18	17					12																	20522696		2070	4115	6185	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522696G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.478G>A	12.37:g.20522696G>A	ENSP00000351957:p.Ala160Thr						p.A160T	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			0	518	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	160					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.478G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498801	0.85069	.	.	ENSG00000172572	ENST00000359062	T	0.62941	-0.01	5.21	5.21	0.72293	.	1.344880	0.04323	N	0.351000	T	0.50956	0.1646	L	0.27053	0.805	0.44834	D	0.997846	B	0.33857	0.429	B	0.24006	0.05	T	0.33879	-0.9851	10	0.48119	T	0.1	.	11.1027	0.48184	0.0867:0.0:0.9133:0.0	.	160	Q14432	PDE3A_HUMAN	T	160	ENSP00000351957:A160T	ENSP00000351957:A160T	A	+	1	0	PDE3A	20413963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.247000	0.51422	2.425000	0.82216	0.555000	0.69702	GCT		0.701	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			A	20522696	G	A	20522696	3	1	52	1	0	0	0	0	1	0	0	0	11637	1203	42	3	480	3	PDE3A	12	20522696	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	1806277	20522696	113329199	44	3285											
C12orf12	196477	broad.mit.edu	37	chr12	91348191	91348191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgcaggccatacaccCgaaacacttgcaccgggcag	11	4	13	13	2	0	0	0	0	0	0	0	2	0	0	3	3	4	3	3	3	2	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:91348191C>T	ENST00000358859.2	-	1	762	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	110																	GCCATACACCCGAAACACTTG	0.647																																						uc001tbj.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(328-330)cGg>cAg		Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.							24	30	28					12																	91348191		2202	4300	6502	SO:0001583	missense	196477							g.chr12:91348191C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.329G>A	12.37:g.91348191C>T	ENSP00000351727:p.Arg110Gln						p.R110Q	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			0	763	-			110					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.329G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900916	0.52227	.	.	ENSG00000197651	ENST00000358859	T	0.36340	1.26	4.62	4.62	0.57501	.	0.000000	0.31721	N	0.007171	T	0.38427	0.1040	N	0.24115	0.695	0.31151	N	0.705518	D	0.65815	0.995	P	0.56514	0.8	T	0.39272	-0.9622	10	0.54805	T	0.06	-25.6392	12.8343	0.57765	0.0:1.0:0.0:0.0	.	110	Q8TC90	CL012_HUMAN	Q	110	ENSP00000351727:R110Q	ENSP00000351727:R110Q	R	-	2	0	C12orf12	89872322	0.112000	0.22096	0.727000	0.30756	0.081000	0.17604	0.357000	0.20199	2.376000	0.81061	0.462000	0.41574	CGG		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		T	91348191	C	T	91348191	3	4	52	1	0	0	0	0	1	0	0	0	1676	652	23	2	895	2	C12orf12	12	91348191	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	70825495	91348191	42503704	45	3286											
BTBD11	121551	broad.mit.edu	37	chr12	108013833	108013833	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaccgcaggcctctCatccagtgcttgttaaagga	10	8	10	13	1	1	0	1	0	1	0	3	1	2	1	3	2	3	5	3	2	2	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:108013833C>A	ENST00000280758.5	+	11	3051	c.2523C>A	c.(2521-2523)ctC>ctA	p.L841L	BTBD11_ENST00000490090.2_Silent_p.L841L|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.L378L|BTBD11_ENST00000420571.2_Silent_p.L722L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	841						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAGGCCTCTCATCCAGTGCT	0.582																																						uc001tmk.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2521-2523)ctC>ctA		Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.							63	60	61					12																	108013833		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108013833C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2523C>A	12.37:g.108013833C>A						BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.3_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	p.L841L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			10	3044	+			841					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2523C>A	CCDS31893.1																																																																																				0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	108013833	C	A	108013833	2	1	52	1	0	0	0	0	0	0	0	1	1539	813	29	5		5	BTBD11	12	108013833	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	16665642	108013833	25838062	46	3287											
FAM48A	55578	broad.mit.edu	37	chr13	37607599	37607599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caattaccgtttcattgggcGagtgttcatcttttgcttgt	6	18	9	8	2	3	0	2	0	1	0	3	1	3	0	1	1	2	3	1	1	2	7	rs569498102		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr13:37607599G>A	ENST00000350612.6	-	10	914	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	SUPT20H_ENST00000464744.1_Missense_Mutation_p.R233C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.R220C|AL138706.1_ENST00000408173.1_RNA|SUPT20H_ENST00000356185.3_Missense_Mutation_p.R233C|SUPT20H_ENST00000360252.4_Missense_Mutation_p.R233C|SUPT20H_ENST00000475892.1_Missense_Mutation_p.R232C	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	232					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TTCATTGGGCGAGTGTTCATC	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		16757	0		0	False		,,,				2504	0					uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(694-696)Cgc>Tgc		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.							242	223	229					13																	37607599		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37607599G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.694C>T	13.37:g.37607599G>A	ENSP00000218894:p.Arg232Cys					FAM48A_uc010abt.3_Missense_Mutation_p.R233C|FAM48A_uc001uwg.3_Missense_Mutation_p.R232C|FAM48A_uc001uwh.3_Missense_Mutation_p.R233C|FAM48A_uc001uwi.3_Missense_Mutation_p.R232C|FAM48A_uc001uwj.3_Missense_Mutation_p.R233C|FAM48A_uc010tes.1_Missense_Mutation_p.R220C|FAM48A_uc001uwl.1_Missense_Mutation_p.R232C	p.R232C	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	9	942	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	232					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.694C>T	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550429	0.45383	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.46819	0.87;0.86;1.45;0.87;0.87;0.89	5.85	5.01	0.66863	.	0.115777	0.64402	D	0.000011	T	0.34542	0.0901	L	0.28458	0.855	0.54753	D	0.999984	B;B;B;B;B;B	0.24721	0.017;0.11;0.031;0.062;0.048;0.017	B;B;B;B;B;B	0.18561	0.008;0.014;0.008;0.022;0.014;0.008	T	0.12192	-1.0557	10	0.36615	T	0.2	-7.5063	11.1534	0.48473	0.1406:0.0:0.8594:0.0	.	220;232;232;233;233;232	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	C	233;232;232;233;232;233;220	ENSP00000353388:R233C;ENSP00000417510:R232C;ENSP00000218894:R232C;ENSP00000348512:R233C;ENSP00000419754:R233C;ENSP00000439000:R220C	ENSP00000218894:R232C	R	-	1	0	FAM48A	36505599	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.623000	0.83113	1.481000	0.48307	0.655000	0.94253	CGC		0.428	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		A	37607599	G	A	37607599	3	1	52	1	0	0	0	0	1	0	0	0	5572	1058	37	2	1713	2	FAM48A	13	37607599	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		37607599	77562279	47	3288											
MDP1	145553	broad.mit.edu	37	chr14	24683351	24683351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattctggatgtgaatgcagGtaacacctagaaagataaga	16	9	10	6	0	1	4	0	1	1	3	1	5	1	5	1	2	2	2	1	2	5	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:24683351G>A	ENST00000288087.7	-	6	521	c.410C>T	c.(409-411)aCc>aTc	p.T137I	MDP1_ENST00000396833.2_Silent_p.Y90Y|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.T154I|TM9SF1_ENST00000556387.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	137						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						GTGAATGCAGGTAACACCTAG	0.433																																						uc001wnl.2																			0											c.(409-411)aCc>aTc		Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.							88	89	89					14																	24683351		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24683351G>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.410C>T	14.37:g.24683351G>A	ENSP00000288087:p.Thr137Ile					TM9SF1_uc010tob.1_5'UTR|TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_5'UTR|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_Silent_p.Y90Y|NEDD8-MDP1_uc021rrm.1_Missense_Mutation_p.T154I	p.T137I	NM_138476	NP_612485					5	525	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.410C>T	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817561	0.50633	.	.	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.25	4.36	0.52297	HAD-like domain (2);	0.000000	0.30830	U	0.008789	D	0.92459	0.7606	.	.	.	0.80722	D	1	P	0.42735	0.788	B	0.36418	0.224	D	0.89990	0.4107	9	0.21014	T	0.42	-5.1538	9.6023	0.39612	0.0939:0.0:0.9061:0.0	.	137	Q86V88	MGDP1_HUMAN	I	137;154	ENSP00000288087:T137I;ENSP00000431482:T154I	ENSP00000288087:T137I	T	-	2	0	MDP1;NEDD8-MDP1	23753191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.455000	0.47813	0.655000	0.94253	ACC		0.433	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		A	24683351	G	A	24683351	3	1	52	1	0	0	0	0	1	0	0	0	9416	1261	44	3	124	3	MDP1	14	24683351	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		24683351	82666189	48	3289											
RBM25	58517	broad.mit.edu	37	chr14	73578261	73578261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaatagtcctggtcagccTaattctgtgaagagaaagaa	14	10	9	8	0	2	3	1	1	1	2	4	4	4	3	3	1	1	0	3	1	6	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:73578261T>C	ENST00000261973.7	+	16	2328	c.2043T>C	c.(2041-2043)ccT>ccC	p.P681P	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.P681P	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	681					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGGTCAGCCTAATTCTGTGA	0.388																																						uc010ttu.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2041-2043)ccT>ccC		Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.							97	97	97					14																	73578261		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578261T>C	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2043T>C	14.37:g.73578261T>C						RBM25_uc001xno.3_Silent_p.P681P|RBM25_uc001xnp.3_Silent_p.P476P	p.P681P	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	16	2319	+			681					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2043T>C	CCDS32113.1																																																																																				0.388	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		C	73578261	T	C	73578261	2	2	52	1	0	0	0	0	0	0	0	1	13125	1509	53	4		4	RBM25	14	73578261	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	48894910	73578261	33771279	49	3290											
EML5	161436	broad.mit.edu	37	chr14	89084607	89084607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtaattctgtcaatagcGgcatgatccataagatgttt	13	13	8	7	1	2	2	1	1	1	1	3	2	3	2	1	1	1	3	1	1	5	5	rs374476714		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:89084607G>A	ENST00000380664.5	-	39	5582	c.5583C>T	c.(5581-5583)gcC>gcT	p.A1861A	EML5_ENST00000352093.5_Silent_p.A1823A|EML5_ENST00000553320.1_5'Flank|EML5_ENST00000554922.1_Silent_p.A1869A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1861						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTCAATAGCGGCATGATCCA	0.378																																						uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5605-5607)gcC>gcT		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.		G		1,3703		0,1,1851	100	97	98		5607	-5.6	1	14		98	0,8206		0,0,4103	no	coding-synonymous	EML5	NM_183387.2		0,1,5954	AA,AG,GG		0.0,0.027,0.0084		1869/1978	89084607	1,11909	1852	4103	5955	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89084607G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5583C>T	14.37:g.89084607G>A						EML5_uc001xxf.3_Silent_p.A656A|EML5_uc021ryg.1_Silent_p.A1869A|EML5_uc001xxd.3_Silent_p.A34A|EML5_uc001xxe.3_Silent_p.A218A	p.A1869A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			39	5856	-			1861					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.5607C>T	CCDS45148.1																																																																																				0.378	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89084607	G	A	89084607	2	1	52	1	0	0	0	0	0	0	0	1	5100	1103	39	2		2	EML5	14	89084607	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	15506346	89084607	18264933	50	3291											
SERPINA1	5265	broad.mit.edu	37	chr14	94847444	94847444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggaagtcctcttcctcGgtgtccttgacttcaaaggg	7	12	11	11	2	2	1	1	1	1	0	6	2	5	2	3	3	0	0	3	3	2	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:94847444G>A	ENST00000448921.1	-	5	1253	c.681C>T	c.(679-681)acC>acT	p.T227T	SERPINA1_ENST00000355814.4_Silent_p.T227T|SERPINA1_ENST00000440909.1_Silent_p.T227T|SERPINA1_ENST00000449399.3_Silent_p.T227T|SERPINA1_ENST00000402629.1_Silent_p.T227T|SERPINA1_ENST00000404814.4_Silent_p.T227T|SERPINA1_ENST00000393087.4_Silent_p.T227T|SERPINA1_ENST00000393088.4_Silent_p.T227T|SERPINA1_ENST00000437397.1_Silent_p.T227T|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	227					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCTCTTCCTCGGTGTCCTTGA	0.517																																						uc001ycy.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(679-681)acC>acT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	Alpha-1-proteinase inhibitor(DB00058)						89	62	71					14																	94847444		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847444G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.681C>T	14.37:g.94847444G>A						SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.T227T|SERPINA1_uc010auy.3_Silent_p.T227T|SERPINA1_uc001ycz.4_Silent_p.T227T|SERPINA1_uc010auz.3_Silent_p.T227T|SERPINA1_uc010ava.3_Silent_p.T227T|SERPINA1_uc001ydb.4_Silent_p.T227T|SERPINA1_uc010avb.3_Silent_p.T227T|SERPINA1_uc001ydc.4_Silent_p.T227T|SERPINA1_uc010auw.3_Silent_p.T227T|SERPINA1_uc010aux.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	p.T227T	NM_001002236	NP_001121179	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1235	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	227					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.681C>T	CCDS9925.1																																																																																				0.517	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		A	94847444	G	A	94847444	2	1	52	1	0	0	0	0	0	0	0	1	14086	1103	39	2		2	SERPINA1	14	94847444	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	5762837	94847444	12502096	51	3292											
HHIPL1	84439	broad.mit.edu	37	chr14	100118715	100118715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaccaggagctctgggCgctggagggcaaccttgcca	9	6	14	12	1	1	1	0	1	1	0	1	3	1	3	3	4	4	3	3	4	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:100118715C>T	ENST00000330710.5	+	2	508	c.410C>T	c.(409-411)gCg>gTg	p.A137V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.A137V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	137					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGCTCTGGGCGCTGGAGGGC	0.602																																						uc010avs.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(409-411)gCg>gTg		Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.							88	80	83					14																	100118715		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118715C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.410C>T	14.37:g.100118715C>T	ENSP00000330601:p.Ala137Val					HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	p.A137V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			1	475	+		Melanoma(154;0.128)	137					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.410C>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	c	15.08	2.726881	0.48833	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.28069	1.63;1.63	4.98	4.98	0.66077	Folate receptor-like (1);	0.340189	0.27595	N	0.018661	T	0.39708	0.1088	L	0.58669	1.825	0.32756	N	0.505739	D;P	0.53619	0.961;0.928	P;B	0.47864	0.559;0.388	T	0.50955	-0.8766	10	0.31617	T	0.26	.	18.2712	0.90069	0.0:1.0:0.0:0.0	.	137;137	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	V	137	ENSP00000330601:A137V;ENSP00000349757:A137V	ENSP00000330601:A137V	A	+	2	0	HHIPL1	99188468	0.995000	0.38212	0.996000	0.52242	0.487000	0.33371	4.275000	0.58927	2.294000	0.77228	0.655000	0.94253	GCG		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		T	100118715	C	T	100118715	3	4	52	1	0	0	0	0	1	0	0	0	7093	768	27	1	416	1	HHIPL1	14	100118715	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	5271271	100118715	7230825	52	3293											
EIF2AK4	440275	broad.mit.edu	37	chr15	40247830	40247830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgttctaggaacgtttgGaaattgctagtttgtcaaac	10	16	9	6	1	3	0	1	0	2	0	3	2	3	2	0	2	3	4	0	2	5	7			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:40247830G>T	ENST00000263791.5	+	6	647	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.E202*|EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.E202*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	202					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGAACGTTTGGAAATTGCTAG	0.378																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(604-606)Gaa>Taa		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							107	101	103					15																	40247830		1876	4094	5970	SO:0001587	stop_gained	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40247830G>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.604G>T	15.37:g.40247830G>T	ENSP00000263791:p.Glu202*					EIF2AK4_uc001zkl.3_Nonsense_Mutation_p.E202*|EIF2AK4_uc010bbj.1_5'UTR	p.E202*	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	5	654	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	202					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	ENST00000263791.5	37	c.604G>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462923	0.96257	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	4.91	4.91	0.64330	.	0.115803	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-19.3446	18.0606	0.89375	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000263791:E202X	E	+	1	0	EIF2AK4	38035122	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.298000	0.72763	2.427000	0.82271	0.462000	0.41574	GAA		0.378	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			T	40247830	G	T	40247830	4	4	52	1	0	0	0	0	0	1	0	0	4999	1175	41	5	626	5	EIF2AK4	15	40247830	Nonsense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		40247830	62283562	53	3294											
SPTBN5	51332	broad.mit.edu	37	chr15	42167085	42167085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggatggccggggaggcgGccatgccatgggccatggag	7	4	19	11	2	0	0	0	0	0	0	0	3	0	3	5	8	1	0	5	8	0	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:42167085G>A	ENST00000320955.6	-	23	4684	c.4457C>T	c.(4456-4458)gCc>gTc	p.A1486V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1486					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGGGAGGCGGCCATGCCATG	0.632																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(4351-4353)gCc>gTc		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							33	38	36					15																	42167085		1976	4129	6105	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42167085G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4457C>T	15.37:g.42167085G>A	ENSP00000317790:p.Ala1486Val						p.A1451V	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	22	4685	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1486						Missense_Mutation	SNP	ENST00000320955.6	37	c.4352C>T		.	.	.	.	.	.	.	.	.	.	.	6.223	0.409328	0.11812	.	.	ENSG00000137877	ENST00000320955	T	0.35048	1.33	4.77	-5.85	0.02311	.	0.806606	0.10795	N	0.633354	T	0.14527	0.0351	N	0.20357	0.565	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27157	-1.0082	10	0.15499	T	0.54	.	2.6214	0.04917	0.2587:0.2479:0.3823:0.1111	.	1486	Q9NRC6	SPTN5_HUMAN	V	1486	ENSP00000317790:A1486V	ENSP00000317790:A1486V	A	-	2	0	SPTBN5	39954377	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.238000	0.18004	-1.204000	0.02648	-1.104000	0.02111	GCC		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42167085	G	A	42167085	3	1	52	1	0	0	0	0	1	0	0	0	15121	1203	42	3	6751	3	SPTBN5	15	42167085	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	1919255	42167085	60364307	54	3295											
PIAS1	8554	broad.mit.edu	37	chr15	68468841	68468841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccacattggagcatcagGtagcgtctcaccaccagtcc	9	8	9	15	1	2	0	2	0	1	0	5	1	4	1	4	2	2	3	4	2	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:68468841G>T	ENST00000249636.6	+	11	1478	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L	PIAS1_ENST00000545237.1_Missense_Mutation_p.V446L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	444					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGAGCATCAGGTAGCGTCTCA	0.423																																						uc002aqz.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1330-1332)Gta>Tta		Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.							131	128	129					15																	68468841		1928	4118	6046	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68468841G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1330G>T	15.37:g.68468841G>T	ENSP00000249636:p.Val444Leu						p.V444L	NM_016166	NP_057250	O75925	PIAS1_HUMAN			10	1423	+			444					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1330G>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651738	0.14516	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.28666	1.6;1.6	5.84	4.91	0.64330	.	3.344180	0.00616	N	0.000426	T	0.23210	0.0561	N	0.08118	0	0.47308	D	0.999389	B	0.02656	0.0	B	0.06405	0.002	T	0.02404	-1.1164	10	0.22706	T	0.39	-7.2845	15.3453	0.74330	0.0682:0.0:0.9318:0.0	.	444	O75925	PIAS1_HUMAN	L	444;446	ENSP00000249636:V444L;ENSP00000438574:V446L	ENSP00000249636:V444L	V	+	1	0	PIAS1	66255895	1.000000	0.71417	0.846000	0.33378	0.439000	0.31926	4.474000	0.60203	2.751000	0.94390	0.655000	0.94253	GTA		0.423	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			T	68468841	G	T	68468841	3	4	52	1	0	0	0	0	1	0	0	0	11875	1261	44	5	1372	5	PIAS1	15	68468841	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	26301756	68468841	34062551	55	3296											
C15orf58	390637	broad.mit.edu	37	chr15	90784827	90784827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggcccacagactgccCgtggagcaggcgccaagcga	9	4	13	15	3	0	1	0	0	0	1	0	3	0	2	4	3	4	1	4	3	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:90784827C>T	ENST00000558017.1	+	4	1107	c.687C>T	c.(685-687)ccC>ccT	p.P229P	GDPGP1_ENST00000329600.6_Silent_p.P229P	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	229					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										ACAGACTGCCCGTGGAGCAGG	0.637																																						uc002bpc.3																			0											c.(685-687)ccC>ccT		Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.							40	40	40					15																	90784827		2199	4298	6497	SO:0001819	synonymous_variant	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784827C>T		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.687C>T	15.37:g.90784827C>T						GDPGP1_uc021suh.1_Silent_p.P229P	p.P229P	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			3	866	+			229						Silent	SNP	ENST00000558017.1	37	c.687C>T	CCDS32327.1																																																																																				0.637	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		T	90784827	C	T	90784827	2	4	52	1	0	0	0	0	0	0	0	1	1806	639	23	2		2	C15orf58	15	90784827	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	22315986	90784827	11746565	56	3297											
CDYL2	124359	broad.mit.edu	37	chr16	80718568	80718568	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatccttctcagagccGgcgtccccattttccatccc	5	12	5	19	2	2	1	2	0	2	1	8	1	6	1	6	1	1	0	6	1	0	3	rs149557557		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr16:80718568G>A	ENST00000570137.2	-	2	638	c.483C>T	c.(481-483)gcC>gcT	p.A161A	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.A161A|CDYL2_ENST00000566173.1_Silent_p.A161A|CDYL2_ENST00000563890.1_Silent_p.A161A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	161						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTCAGAGCCGGCGTCCCCAT	0.512																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(481-483)gcC>gcT		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.		G		0,4406		0,0,2203	106	104	105		483	-5.6	0	16	dbSNP_134	105	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CDYL2	NM_152342.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		161/507	80718568	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718568G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.483C>T	16.37:g.80718568G>A							p.A161A	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			1	588	-			161					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.483C>T	CCDS32493.1																																																																																				0.512	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		A	80718568	G	A	80718568	2	1	52	1	0	0	0	0	0	0	0	1	3186	1103	39	2		2	CDYL2	16	80718568	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		80718568	9636185	57	3298											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	p.Y220C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	52	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		7578190	73617020	58	3299											
ABCA10	10349	broad.mit.edu	37	chr17	67148603	67148603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccctctccttgtttttaaCggtagcctgaagtatctgcc	6	14	8	13	1	2	1	0	1	2	0	3	1	2	1	5	1	3	3	5	1	4	6	rs377479549		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:67148603C>T	ENST00000269081.4	-	36	5065	c.4156G>A	c.(4156-4158)Gtt>Att	p.V1386I	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1386	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTTTTTAACGGTAGCCTGA	0.423																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4156-4158)Gtt>Att		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.		C	ILE/VAL	0,4406		0,0,2203	135	117	123		4156	-0.9	0	17		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA10	NM_080282.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1386/1544	67148603	1,13005	2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67148603C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4156G>A	17.37:g.67148603C>T	ENSP00000269081:p.Val1386Ile					ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_Non-coding_Transcript	p.V1386I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			35	5035	-	Breast(10;6.95e-12)		1386			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4156G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	3.034	-0.199057	0.06219	0.0	1.16E-4	ENSG00000154263	ENST00000269081	D	0.95205	-3.64	3.07	-0.85	0.10720	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.187330	0.06967	N	0.817404	D	0.87107	0.6095	N	0.21448	0.665	0.80722	D	1	B;B	0.23540	0.02;0.087	B;B	0.15870	0.004;0.014	T	0.74816	-0.3536	10	0.24483	T	0.36	.	5.4495	0.16554	0.6044:0.2746:0.0:0.121	.	378;1386	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	I	1386	ENSP00000269081:V1386I	ENSP00000269081:V1386I	V	-	1	0	ABCA10	64660198	0.004000	0.15560	0.035000	0.18076	0.088000	0.18126	0.080000	0.14802	0.100000	0.17581	-0.253000	0.11424	GTT		0.423	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		T	67148603	C	T	67148603	3	4	52	1	0	0	0	0	1	0	0	0	29	536	19	1	495	1	ABCA10	17	67148603	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	59570413	67148603	14046607	59	3300											
MYOM1	8736	broad.mit.edu	37	chr18	3134669	3134669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagcccttcacggggttgTtgttacagggctcccacttg	5	12	13	11	1	1	1	1	1	0	0	2	1	2	1	2	3	2	4	2	3	1	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:3134669T>C	ENST00000356443.4	-	16	2696	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	MYOM1_ENST00000261606.7_Missense_Mutation_p.N788S|MYOM1_ENST00000400569.3_Missense_Mutation_p.N788S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	788	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGGGGTTGTTGTTACAGGG	0.577																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2362-2364)aAc>aGc		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							55	54	54					18																	3134669		1935	4135	6070	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3134669T>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2363A>G	18.37:g.3134669T>C	ENSP00000348821:p.Asn788Ser					MYOM1_uc002klq.3_Missense_Mutation_p.N788S	p.N788S	NM_003803	NP_003794	P52179	MYOM1_HUMAN			15	2697	-			788			Fibronectin type-III 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2363A>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094719	0.76870	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57107	0.42;0.42;0.42	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.39467	1.215	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54860	-0.8230	10	0.07325	T	0.83	.	15.5528	0.76167	0.0:0.0:0.0:1.0	.	788;788	P52179-2;P52179	.;MYOM1_HUMAN	S	788	ENSP00000348821:N788S;ENSP00000383413:N788S;ENSP00000261606:N788S	ENSP00000261606:N788S	N	-	2	0	MYOM1	3124669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.003000	0.88520	2.087000	0.62958	0.533000	0.62120	AAC		0.577	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		C	3134669	T	C	3134669	3	2	52	1	0	0	0	0	1	0	0	0	10091	1725	60	4	2786	4	MYOM1	18	3134669	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		3134669	74942579	60	3301											
CDH7	1005	broad.mit.edu	37	chr18	63477003	63477003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgtcaggcgaaggggcaAgttccattttcattattgat	9	15	10	7	1	3	1	2	1	1	0	4	2	4	1	1	3	0	2	1	3	3	6			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:63477003A>G	ENST00000397968.2	+	3	700	c.274A>G	c.(274-276)Agt>Ggt	p.S92G	CDH7_ENST00000323011.3_Missense_Mutation_p.S92G|CDH7_ENST00000536984.2_Missense_Mutation_p.S92G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAAGGGGCAAGTTCCATTTT	0.448																																						uc002lkb.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(274-276)Agt>Ggt		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.							93	87	90					18																	63477003		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477003A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.274A>G	18.37:g.63477003A>G	ENSP00000381058:p.Ser92Gly					CDH7_uc002ljz.3_Missense_Mutation_p.S92G|CDH7_uc002lka.3_Missense_Mutation_p.S92G	p.S92G	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN			2	700	+		Esophageal squamous(42;0.129)	92			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.274A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	3.468	-0.108600	0.06924	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.49720	0.77;0.77;0.77	5.94	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.204074	0.53938	D	0.000058	T	0.15565	0.0375	N	0.00686	-1.255	0.43021	D	0.994578	B;P	0.34462	0.0;0.454	B;B	0.34931	0.001;0.192	T	0.35151	-0.9800	10	0.02654	T	1	.	11.8508	0.52410	0.9322:0.0:0.0678:0.0	.	92;92	F5H5X9;Q9ULB5	.;CADH7_HUMAN	G	92	ENSP00000319166:S92G;ENSP00000443030:S92G;ENSP00000381058:S92G	ENSP00000319166:S92G	S	+	1	0	CDH7	61627983	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	2.756000	0.47549	1.081000	0.41110	0.528000	0.53228	AGT		0.448	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		G	63477003	A	G	63477003	3	3	52	1	0	0	0	0	1	0	0	0	3115	72	3	4	280	4	CDH7	18	63477003	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08	60342334	63477003	14600245	61	3302											
REXO1	57455	broad.mit.edu	37	chr19	1816329	1816329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacagacgtgtccaccaCggtgctgtggatgacctgtg	8	8	14	11	2	0	2	0	1	0	1	1	4	1	3	3	2	2	2	3	2	0	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:1816329C>T	ENST00000170168.4	-	15	3566	c.3472G>A	c.(3472-3474)Gtg>Atg	p.V1158M	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1158	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCCACCACGGTGCTGTGG	0.682																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(3472-3474)Gtg>Atg		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.							15	13	14					19																	1816329		2189	4286	6475	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1816329C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3472G>A	19.37:g.1816329C>T	ENSP00000170168:p.Val1158Met					REXO1_uc010dsq.3_Missense_Mutation_p.V467M|REXO1_uc010xgs.1_Missense_Mutation_p.V144M|REXO1_uc021umm.1_5'Flank	p.V1158M	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3567	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1158			Exonuclease.		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.3472G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.167942	0.78339	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.34072	1.38	5.06	5.06	0.68205	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	H	0.94620	3.56	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.78811	-0.2057	10	0.87932	D	0	-24.9156	13.8873	0.63717	0.0:0.8346:0.1654:0.0	.	144;467;1158	B4DVD3;B4DWY3;Q8N1G1	.;.;REXO1_HUMAN	M	1158;430	ENSP00000170168:V1158M	ENSP00000170168:V1158M	V	-	1	0	REXO1	1767329	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	3.703000	0.54808	2.330000	0.79161	0.556000	0.70494	GTG		0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		T	1816329	C	T	1816329	3	4	52	1	0	0	0	0	1	0	0	0	13241	536	19	1	201	1	REXO1	19	1816329	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		1816329	57312654	62	3303											
OR2Z1	284383	broad.mit.edu	37	chr19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcctgtacttatgagaCgccaggtatgtctgctgatg	9	13	11	8	1	1	2	0	2	1	1	2	3	2	2	2	1	2	4	2	1	4	4	rs58741481	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:8841802C>T	ENST00000324060.2	+	1	487	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	138			R -> C (in dbSNP:rs58741481).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTATGAGACGCCAGGTATG	0.557													C|||	3	0.000599042	0.0023	0	5008	,	,		21639	0		0	False		,,,				2504	0					uc010xkg.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(412-414)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	151	121	131		412	3.2	0.9	19	dbSNP_129	131	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR2Z1	NM_001004699.1	180	0,10,6493	TT,TC,CC		0.0465,0.1362,0.0769	possibly-damaging	138/315	8841802	10,12996	2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841802C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.412C>T	19.37:g.8841802C>T	ENSP00000316284:p.Arg138Cys						p.R138C	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			0	412	+			138		R -> C (in dbSNP:rs58741481).			B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.412C>T	CCDS32895.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.28	1.305812	0.23736	0.001362	4.65E-4	ENSG00000181733	ENST00000324060	T	0.01388	4.95	4.33	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.455893	0.20138	N	0.098457	T	0.02571	0.0078	M	0.76433	2.335	0.22701	N	0.998831	D	0.62365	0.991	B	0.41860	0.368	T	0.43940	-0.9360	10	0.51188	T	0.08	.	10.3577	0.43974	0.2982:0.7018:0.0:0.0	rs58741481	138	Q8NG97	OR2Z1_HUMAN	C	138	ENSP00000316284:R138C	ENSP00000316284:R138C	R	+	1	0	OR2Z1	8702802	0.000000	0.05858	0.885000	0.34714	0.022000	0.10575	-0.894000	0.04123	2.182000	0.69389	0.543000	0.68304	CGC		0.557	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			T	8841802	C	T	8841802	3	4	52	1	0	0	0	0	1	0	0	0	11036	536	19	1	414	1	OR2Z1	19	8841802	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	7025473	8841802	50287181	63	3304											
SARS2	54938	broad.mit.edu	37	chr19	39408375	39408375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacaccggaagtgcaaGcccagctctgtcaagatctc	10	8	8	15	1	4	1	1	0	3	1	6	2	4	2	3	1	3	2	3	1	3	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:39408375G>A	ENST00000221431.6	-	12	1308	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.L453F|SARS2_ENST00000430193.3_Silent_p.G383G|SARS2_ENST00000448145.2_Silent_p.G383G|SARS2_ENST00000594171.1_Silent_p.G193G|SARS2_ENST00000598831.1_Silent_p.G31G|SARS2_ENST00000600042.1_Silent_p.G385G	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	383					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGAAGTGCAAGCCCAGCTCTG	0.627																																						uc010xup.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(1153-1155)ggC>ggT		Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							70	63	66					19																	39408375		2203	4300	6503	SO:0001819	synonymous_variant	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39408375G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1149C>T	19.37:g.39408375G>A						SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc002oka.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_Non-coding_Transcript	p.G385G	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		12	1315	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		383					A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	37	c.1155C>T	CCDS33017.1																																																																																				0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		A	39408375	G	A	39408375	2	1	52	1	0	0	0	0	0	0	0	1	13845	958	34	3		3	SARS2	19	39408375	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	30566573	39408375	19720608	64	3305											
IL4I1	259307	broad.mit.edu	37	chr19	50397588	50397588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctggggacgcaaggcGtagcccagcttctcgggcac	6	9	13	13	3	1	0	0	0	1	0	3	1	2	1	2	4	2	4	2	4	2	4	rs145616852	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:50397588G>A	ENST00000391826.2	-	5	646	c.504C>T	c.(502-504)taC>taT	p.Y168Y	IL4I1_ENST00000595948.1_Silent_p.Y190Y|IL4I1_ENST00000341114.3_Silent_p.Y190Y	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	168						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GACGCAAGGCGTAGCCCAGCT	0.602																																						uc002pqv.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(529-531)taC>taT		Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.		G	,	9,4397	15.5+/-35.6	0,9,2194	110	106	107		504,570	3.4	0.6	19	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IL4I1	NM_152899.1,NM_172374.1	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	168/568,190/590	50397588	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50397588G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.504C>T	19.37:g.50397588G>A						IL4I1_uc002pqt.1_Silent_p.Y168Y|IL4I1_uc021uxy.1_Silent_p.Y190Y|IL4I1_uc002pqu.2_Silent_p.Y190Y|IL4I1_uc010eno.2_Silent_p.Y176Y	p.Y177Y	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	7	1360	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	168					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.531C>T	CCDS12787.1																																																																																				0.602	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			A	50397588	G	A	50397588	2	1	52	1	0	0	0	0	0	0	0	1	7697	1140	40	1		1	IL4I1	19	50397588	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	10989213	50397588	8731395	65	3306											
ZNF667	63934	broad.mit.edu	37	chr19	56953533	56953533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatttatgtgttttcttTccattgtgaattttcttatg	7	25	5	4	0	2	1	0	1	2	0	3	1	3	1	1	0	0	1	1	0	5	11			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:56953533T>C	ENST00000504904.3	-	7	1550	c.831A>G	c.(829-831)ggA>ggG	p.G277G	ZNF667_ENST00000292069.6_Silent_p.G277G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.G405G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTGTTTTCTTTCCATTGTGAA	0.348																																						uc002qne.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(829-831)ggA>ggG		Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.							63	69	67					19																	56953533		2201	4295	6496	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953533T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.831A>G	19.37:g.56953533T>C						ZNF667_uc010etl.3_Silent_p.G59G|ZNF667_uc002qnd.3_Silent_p.G277G|ZNF667_uc010etm.3_Silent_p.G220G	p.G277G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	6	1622	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	277					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.831A>G	CCDS12944.1																																																																																				0.348	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		C	56953533	T	C	56953533	2	2	52	1	0	0	0	0	0	0	0	1	18071	1770	62	4		4	ZNF667	19	56953533	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	6555945	56953533	2175450	66	3307											
ZNF134	7693	broad.mit.edu	37	chr19	58131796	58131796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtgttacagtatagaGcaacccttaagaagggataa	17	8	10	6	0	0	3	0	0	0	3	0	4	0	4	1	1	3	3	1	1	8	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:58131796G>A	ENST00000396161.5	+	3	619	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGTATAGAGCAACCCTTAA	0.458																																						uc002qpn.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(307-309)gaG>gaA		Homo sapiens zinc finger protein 134 (ZNF134), mRNA.							65	63	63					19																	58131796		1977	4182	6159	SO:0001819	synonymous_variant	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131796G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.309G>A	19.37:g.58131796G>A						ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	p.E103E	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	2	408	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	103					Q9Y4B2	Silent	SNP	ENST00000396161.5	37	c.309G>A	CCDS42638.1																																																																																				0.458	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		A	58131796	G	A	58131796	2	1	52	1	0	0	0	0	0	0	0	1	17721	962	34	3		3	ZNF134	19	58131796	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	1178263	58131796	997187	67	3308											
C20orf71	128861	broad.mit.edu	37	chr20	31814297	31814297	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacacatggtagaaagtcagGtaagtttagaaaaaactttg	17	10	9	5	0	1	2	1	0	0	2	1	2	1	2	0	2	1	3	0	2	7	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:31814297G>T	ENST00000375454.3	+	5	831		c.e5+1		BPIFA3_ENST00000490499.1_Splice_Site|BPIFA3_ENST00000375452.3_Splice_Site	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3							extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGAAAGTCAGGTAAGTTTAGA	0.393																																						uc002wyr.3																			0											c.e5+1		Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.							75	69	71					20																	31814297		2203	4300	6503	SO:0001630	splice_region_variant	128861					extracellular region	lipid binding	g.chr20:31814297G>T		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.621+1G>T	20.37:g.31814297G>T						BPIFA3_uc002wys.3_Splice_Site_p.Q171_splice	p.Q207_splice	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			5	829	+			207					Q5JWG8|Q6NZ38	Splice_Site	SNP	ENST00000375454.3	37	c.621_splice	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	G	7.093	0.572485	0.13623	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0655	0.47972	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFA3	31277958	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	3.655000	0.54460	2.338000	0.79540	0.462000	0.41574	.		0.393	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	Intron	T	31814297	G	T	31814297	5	4	52	1	0	0	0	0	0	0	1	0	2117	1275	44	5	640	5	C20orf71	20	31814297	Splice_Site	SNP	G	TCGA-06-0644-01A-02D-1492-08		31814297	31211223	68	3309											
PTPRT	11122	broad.mit.edu	37	chr20	41306674	41306674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacgtgcctgtggtggTgcgatattccacttccttca	5	13	10	13	2	1	0	1	0	0	0	3	1	3	0	4	2	3	0	4	2	1	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:41306674T>C	ENST00000373187.1	-	7	984	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	PTPRT_ENST00000373198.4_Missense_Mutation_p.T329A|PTPRT_ENST00000373193.3_Missense_Mutation_p.T329A|PTPRT_ENST00000373184.1_Missense_Mutation_p.T329A|PTPRT_ENST00000373190.1_Missense_Mutation_p.T329A|PTPRT_ENST00000373201.1_Missense_Mutation_p.T329A|PTPRT_ENST00000356100.2_Missense_Mutation_p.T329A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGTGGTGGTGCGATATTCC	0.557																																						uc002xkg.3																			0		p.R328C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(985-987)Acc>Gcc		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							139	145	143					20																	41306674		2059	4209	6268	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306674T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.985A>G	20.37:g.41306674T>C	ENSP00000362283:p.Thr329Ala					PTPRT_uc010ggj.3_Missense_Mutation_p.T329A	p.T329A	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1169	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	329			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.985A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432185	0.43122	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	N	0.12471	0.22	0.54753	D	0.999984	D;D	0.67145	0.996;0.996	D;D	0.70227	0.945;0.968	T	0.72734	-0.4204	10	0.14656	T	0.56	.	15.4209	0.75009	0.0:0.0:0.0:1.0	.	329;329	O14522-1;O14522	.;PTPRT_HUMAN	A	329	ENSP00000362286:T329A;ENSP00000362283:T329A;ENSP00000362289:T329A;ENSP00000348408:T329A;ENSP00000362294:T329A;ENSP00000362280:T329A;ENSP00000362297:T329A	ENSP00000348408:T329A	T	-	1	0	PTPRT	40740088	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	6.249000	0.72427	2.184000	0.69523	0.533000	0.62120	ACC		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			C	41306674	T	C	41306674	3	2	52	1	0	0	0	0	1	0	0	0	12812	1696	59	4	3501	4	PTPRT	20	41306674	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08	9492377	41306674	21718846	69	3310											
OLIG2	10215	broad.mit.edu	37	chr21	34399532	34399532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcgagcgcaagcgcaTgcacgacctcaacatcgcca	11	3	10	17	6	1	0	1	0	0	0	2	2	1	0	3	0	5	3	3	0	2	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:34399532T>A	ENST00000333337.3	+	1	1290	c.362T>A	c.(361-363)aTg>aAg	p.M121K	AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.M121K			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	121	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						CGCAAGCGCATGCACGACCTC	0.622			T	TRA@	T-ALL																																	uc002yqx.2				Dom	yes		21	21q22.11	10215	T	oligodendrocyte lineage transcription factor 2 (BHLHB1)			L	TRA@		T-ALL		0				breast(1)|central_nervous_system(2)	3						c.(361-363)aTg>aAg		Homo sapiens oligodendrocyte lineage transcription factor 2 (OLIG2), mRNA.							30	26	28					21																	34399532		2203	4300	6503	SO:0001583	missense	10215					cytoplasm|nucleus|plasma membrane	DNA binding	g.chr21:34399532T>A	U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"Basic helix-loop-helix proteins"	9398	protein-coding gene	gene with protein product	"oligodendrocyte-specific bHLH transcription factor 2", "protein kinase C binding protein 2", "human protein kinase C-binding protein RACK17", "basic domain, helix-loop-helix protein, class B, 1"	606386	"protein kinase C binding protein 2"	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.362T>A	21.37:g.34399532T>A	ENSP00000331040:p.Met121Lys					OLIG2_uc021wil.1_Missense_Mutation_p.M121K	p.M121K	NM_005806	NP_005797	Q13516	OLIG2_HUMAN			1	543	+			121			Helix-loop-helix motif.		B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	ENST00000333337.3	37	c.362T>A	CCDS13620.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334130	0.81801	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	D;D	0.98060	-4.69;-4.69	3.27	3.27	0.37495	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	U	0.000000	D	0.99010	0.9662	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98925	1.0785	10	0.87932	D	0	.	10.7126	0.45993	0.0:0.0:0.0:1.0	.	121	Q13516	OLIG2_HUMAN	K	121	ENSP00000371794:M121K;ENSP00000331040:M121K	ENSP00000331040:M121K	M	+	2	0	OLIG2	33321402	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.817000	0.86213	1.331000	0.45412	0.379000	0.24179	ATG		0.622	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139663.1	NM_005806		A	34399532	T	A	34399532	3	1	52	1	0	0	0	0	1	0	0	0	10861	1464	51	5	364	5	OLIG2	21	34399532	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		34399532	13730363	70	3311											
COL6A2	1292	broad.mit.edu	37	chr21	47544566	47544566	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgttccttctcaggCggatcctggtccccctggtg	2	15	11	13	1	2	0	1	0	2	0	6	1	5	1	4	4	0	2	4	4	0	4	rs376303610		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:47544566C>T	ENST00000300527.4	+	22	1777	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	COL6A2_ENST00000357838.4_Splice_Site_p.A558V|COL6A2_ENST00000409416.1_Splice_Site_p.A558V|COL6A2_ENST00000310645.5_Splice_Site_p.A558V|COL6A2_ENST00000397763.1_Splice_Site_p.A558V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	558	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.A558V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCTCAGGCGGATCCTGGT	0.672																																						uc002zia.1																			1	Substitution - Missense(1)	p.A558V(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.e22-1		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	49	59	55		1673,1673,1673	4.1	1	21		55	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	558/1020,558/919,558/829	47544566	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47544566C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1672-1C>T	21.37:g.47544566C>T						COL6A2_uc002zhz.1_Splice_Site_p.A558_splice|COL6A2_uc002zhy.1_Splice_Site_p.A558_splice	p.A558_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	22	1754	+	Breast(49;0.245)		558			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1672_splice	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662467	0.67700	0.0	1.16E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.93906	-3.31;-2.48;-3.31;-3.31;-2.48;-3.27	4.08	4.08	0.47627	.	0.055737	0.64402	D	0.000001	D	0.90573	0.7045	N	0.19112	0.55	0.40611	D	0.981674	D;D;D	0.56035	0.974;0.968;0.968	P;P;P	0.53185	0.72;0.598;0.598	D	0.90399	0.4401	10	0.39692	T	0.17	-9.0304	12.5266	0.56089	0.0:0.6896:0.3104:0.0	.	558;558;558	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	V	558;558;558;558;558;99	ENSP00000300527:A558V;ENSP00000350497:A558V;ENSP00000312529:A558V;ENSP00000387115:A558V;ENSP00000380870:A558V;ENSP00000395751:A99V	ENSP00000300527:A558V	A	+	2	0	COL6A2	46368994	1.000000	0.71417	0.993000	0.49108	0.607000	0.37147	4.099000	0.57755	1.852000	0.53769	0.585000	0.79938	GCG		0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		Missense_Mutation	T	47544566	C	T	47544566	5	4	52	1	0	0	0	0	0	0	1	0	3700	782	27	1	1755	1	COL6A2	21	47544566	Splice_Site	SNP	C	TCGA-06-0644-01A-02D-1492-08	13145034	47544566	585329	71	3312											
MXRA5	25878	broad.mit.edu	37	chrX	3229308	3229308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccctcatccccacttcGttaaagtagagtgtcccatt	8	13	5	15	1	1	1	1	0	0	1	6	1	5	1	5	0	0	2	5	0	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:3229308G>A	ENST00000217939.6	-	7	7090	c.6936C>T	c.(6934-6936)aaC>aaT	p.N2312N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2312	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCACTTCGTTAAAGTAGA	0.547																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6934-6936)aaC>aaT		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							163	133	143					X																	3229308		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229308G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6936C>T	X.37:g.3229308G>A							p.N2312N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	7093	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2312			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6936C>T	CCDS14124.1																																																																																				0.547	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3229308	G	A	3229308	2	1	52	1	0	0	0	0	0	0	0	1	10003	1136	40	1		1	MXRA5	23	3229308	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		3229308	152041252	72	3313											
TLR8	51311	broad.mit.edu	37	chrX	12939911	12939911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacgttctcctttgtctaGaggagagggattgggatccg	10	11	13	7	2	2	2	0	0	2	2	4	5	3	4	2	3	1	1	2	3	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:12939911G>A	ENST00000218032.6	+	2	2839	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	TLR8_ENST00000311912.5_Missense_Mutation_p.E936K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	918	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CCTTTGTCTAGAGGAGAGGGA	0.443																																						uc004cvd.3																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2806-2808)Gag>Aag		Homo sapiens toll-like receptor 8 (TLR8), mRNA.							84	86	85					X																	12939911		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939911G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2752G>A	X.37:g.12939911G>A	ENSP00000218032:p.Glu918Lys					TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E918K	p.E936K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2976	+			918			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2806G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483747	0.84854	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02579	4.24;4.24	5.97	5.1	0.69264	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.176769	0.26708	N	0.022910	T	0.19446	0.0467	M	0.89658	3.05	0.58432	D	0.999997	D;D	0.64830	0.994;0.994	D;D	0.66351	0.943;0.943	T	0.03662	-1.1015	10	0.87932	D	0	.	16.2537	0.82501	0.0:0.1293:0.8707:0.0	.	918;936	Q9NR97;D1CS70	TLR8_HUMAN;.	K	918;936	ENSP00000218032:E918K;ENSP00000312082:E936K	ENSP00000218032:E918K	E	+	1	0	TLR8	12849832	1.000000	0.71417	0.954000	0.39281	0.836000	0.47400	5.689000	0.68234	1.265000	0.44215	0.600000	0.82982	GAG		0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12939911	G	A	12939911	3	1	52	1	0	0	0	0	1	0	0	0	15954	943	33	3	2758	3	TLR8	23	12939911	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	9710603	12939911	142330649	73	3314											
OTUD6A	139562	broad.mit.edu	37	chrX	69282717	69282717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggagagcatcttccagGctgagatgtcggagcacctg	9	7	14	11	1	1	2	0	1	1	2	3	5	2	3	3	3	2	3	3	3	0	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:69282717G>C	ENST00000338352.2	+	1	377	c.343G>C	c.(343-345)Gct>Cct	p.A115P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	115					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCTTCCAGGCTGAGATGTC	0.617																																						uc004dxu.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(343-345)Gct>Cct		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							24	21	22					X																	69282717		2184	4282	6466	SO:0001583	missense	139562							g.chrX:69282717G>C	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.343G>C	X.37:g.69282717G>C	ENSP00000339389:p.Ala115Pro						p.A115P	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			0	377	+			115					B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.343G>C	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681028	0.47886	.	.	ENSG00000189401	ENST00000338352	T	0.52526	0.66	4.06	1.1	0.20463	.	0.546760	0.19288	N	0.117970	T	0.57021	0.2025	M	0.79123	2.44	0.09310	N	0.999996	D	0.63046	0.992	P	0.60682	0.878	T	0.46555	-0.9183	10	0.44086	T	0.13	.	3.2737	0.06891	0.1054:0.1697:0.5495:0.1754	.	115	Q7L8S5	OTU6A_HUMAN	P	115	ENSP00000339389:A115P	ENSP00000339389:A115P	A	+	1	0	OTUD6A	69199442	0.069000	0.21087	0.000000	0.03702	0.002000	0.02628	2.351000	0.44071	0.088000	0.17205	0.556000	0.70494	GCT		0.617	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		C	69282717	G	C	69282717	3	2	52	1	0	0	0	0	1	0	0	0	11316	1203	42	5	345	5	OTUD6A	23	69282717	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	56342806	69282717	85987843	74	3315											
CXorf57	55086	broad.mit.edu	37	chrX	105855511	105855511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccccctcggaggtggtGcctgtaactgtgctggccgt	4	10	14	13	2	1	0	1	0	0	0	2	1	1	1	4	4	3	2	4	4	1	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:105855511G>A	ENST00000372548.4	+	1	310	c.201G>A	c.(199-201)gtG>gtA	p.V67V	CXorf57_ENST00000372544.2_Silent_p.V67V	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	67							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAGGTGGTGCCTGTAACTG	0.572																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(199-201)gtG>gtA		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							93	83	86					X																	105855511		2203	4300	6503	SO:0001819	synonymous_variant	55086							g.chrX:105855511G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.201G>A	X.37:g.105855511G>A						CXorf57_uc004emj.4_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	p.V67V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			0	352	+			67					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.201G>A	CCDS14519.1																																																																																				0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		A	105855511	G	A	105855511	2	1	52	1	0	0	0	0	0	0	0	1	4113	1306	46	3		3	CXorf57	23	105855511	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	36572794	105855511	49415049	75	3316											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967730	4967730	+	Frame_Shift_Del	DEL	T	T	-																															tgtcaatgacaacaaaccagTtttcattgtccctccttaca																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrY:4967730delT	ENST00000333703.4	+	5	2591	c.2078delT	c.(2077-2079)gttfs	p.V693fs	PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.V704fs|PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.V704fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	704	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACAAACCAGTTTTCATTGTC	0.403																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2110-2112)gttfs		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001589	frameshift_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967730delT	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2078delT	Y.37:g.4967730delT	ENSP00000330552:p.Val693fs					PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	p.V704fs	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	2845	+			704			Cadherin 6.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Frame_Shift_Del	DEL	ENST00000333703.4	37	c.2111delT	CCDS14776.1																																																																																				0.403	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		-	4967730	T	-	4967730	7	5	52	1	0	1	0	1	0	0	0	0	11509	1725	60	0	2153	0	PCDH11Y	24	4967730	Frame_Shift_Del	DEL	T	TCGA-06-0644-01A-02D-1492-08		4967730	54405836	76	3317											
KIAA1751	85452	broad.mit.edu	37	chr1	1888126	1888126	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggaacttgaaagtcGtgcccaagcccccaacgttg	10	7	11	13	2	0	1	0	1	0	0	1	2	0	2	3	2	4	2	3	2	4	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:1888126G>A								TMEM52 (37414 upstream) : C1orf222 (31436 downstream)																							CTTGAAAGTCGTGCCCAAGCC	0.582																																						uc001aim.1																			0		p.T650S(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1948-1950)aCg>aTg		Homo sapiens KIAA1751 (KIAA1751), mRNA.							70	77	75					1																	1888126		2159	4271	6430	SO:0001628	intergenic_variant	85452							g.chr1:1888126G>A																													1.37:g.1888126G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M	p.T650M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	16	2105	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	650						Missense_Mutation	SNP		37	c.1949C>T		.	.	.	.	.	.	.	.	.	.	G	14.84	2.656478	0.47467	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	4.75	0.60458	.	0.297744	0.26210	N	0.025697	T	0.79173	0.4401	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81519	-0.0896	9	0.59425	D	0.04	-30.0011	15.6211	0.76808	0.0:0.0:1.0:0.0	.	650;650	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	M	650;97	.	ENSP00000270720:T650M	T	-	2	0	C1orf222	1877986	1.000000	0.71417	0.936000	0.37596	0.065000	0.16274	5.113000	0.64640	2.352000	0.79861	0.655000	0.94253	ACG	0	0.582									A	1888126	G	A	1888126	1	1	53	0	1	0	0	0	0	0	0	0	8256	1145	40	1		1	KIAA1751	1	1888126	IGR	SNP	G	TCGA-06-0645-01A-01D-1492-08		1888126	247362495	1	3318											
TAS1R2	80834	broad.mit.edu	37	chr1	19166593	19166593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagggcccctggtagcGgacccagtagctgtaggcgc	7	6	16	12	3	0	0	0	0	0	0	0	2	0	1	3	4	2	5	3	4	4	4	rs528372608	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:19166593G>A	ENST00000375371.3	-	6	2041	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	674					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCTGGTAGCGGACCCAGTAG	0.572													G|||	3	0.000599042	0	0	5008	,	,		21373	0.003		0	False		,,,				2504	0					uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2020-2022)Cgc>Tgc		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						139	149	146					1																	19166593		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166593G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2020C>T	1.37:g.19166593G>A	ENSP00000364520:p.Arg674Cys						p.R674C	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	2021	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	674					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2020C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177566	0.57692	.	.	ENSG00000179002	ENST00000375371	D	0.89270	-2.49	5.3	3.27	0.37495	GPCR, family 3, C-terminal (2);	0.502056	0.15479	N	0.260195	D	0.93380	0.7889	M	0.88570	2.965	0.41023	D	0.985098	D	0.89917	1.0	D	0.74348	0.983	D	0.91555	0.5260	10	0.72032	D	0.01	.	2.7863	0.05375	0.1003:0.147:0.5279:0.2248	.	674	Q8TE23	TS1R2_HUMAN	C	674	ENSP00000364520:R674C	ENSP00000364520:R674C	R	-	1	0	TAS1R2	19039180	0.465000	0.25815	0.881000	0.34555	0.789000	0.44602	0.830000	0.27462	1.242000	0.43836	0.561000	0.74099	CGC		0.572	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19166593	G	A	19166593	3	1	53	1	0	0	0	0	1	0	0	0	15560	1116	39	2	503	2	TAS1R2	1	19166593	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	17278467	19166593	230084028	2	3319											
GRHL3	57822	broad.mit.edu	37	chr1	24657929	24657929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcagtttcaggtctgtgCggctgctaaagaacgaccca	10	10	10	11	2	3	1	2	0	1	1	3	2	3	1	1	2	3	3	1	2	3	3	rs202164828		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:24657929C>T	ENST00000350501.5	+	2	158	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	GRHL3_ENST00000236255.4_Missense_Mutation_p.R16W|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.R11W|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_3'UTR	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	11					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGTCTGTGCGGCTGCTAAA	0.512																																						uc021oiw.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(31-33)Cgg>Tgg		Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.							92	93	92					1																	24657929		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24657929C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.31C>T	1.37:g.24657929C>T	ENSP00000288955:p.Arg11Trp					GRHL3_uc001bix.3_Missense_Mutation_p.R11W|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Missense_Mutation_p.R16W|GRHL3_uc001biz.3_Intron	p.R11W	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	1	261	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	11					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.31C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648918	0.67358	.	.	ENSG00000158055	ENST00000361548;ENST00000350501;ENST00000236255	T;T;T	0.51071	0.72;0.72;0.72	5.92	2.89	0.33648	.	0.207524	0.31884	N	0.006917	T	0.48804	0.1520	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.978	P;B	0.50708	0.648;0.436	T	0.45775	-0.9238	10	0.49607	T	0.09	-26.437	13.9846	0.64326	0.5259:0.4741:0.0:0.0	.	16;11	Q8TE85-2;G3XAF0	.;.	W	11;11;16	ENSP00000354943:R11W;ENSP00000288955:R11W;ENSP00000236255:R16W	ENSP00000236255:R16W	R	+	1	2	GRHL3	24530516	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	0.716000	0.25836	0.331000	0.23511	0.650000	0.86243	CGG		0.512	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		T	24657929	C	T	24657929	3	4	53	1	0	0	0	0	1	0	0	0	6765	759	27	1	73	1	GRHL3	1	24657929	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	5491336	24657929	224592692	3	3320											
KPRP	448834	broad.mit.edu	37	chr1	152732729	152732729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtttccctcagtatcGgtcccggacttcatttagtc	6	14	8	13	2	2	0	2	0	0	0	6	1	4	1	2	2	1	3	2	2	2	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:152732729G>A	ENST00000606109.1	+	1	693	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R222Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	222						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGTATCGGTCCCGGACT	0.582																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(664-666)cGg>cAg		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							123	124	124					1																	152732729		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732729G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.665G>A	1.37:g.152732729G>A	ENSP00000475216:p.Arg222Gln					KPRP_uc021ozf.1_Missense_Mutation_p.R222Q	p.R222Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	723	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		222						Missense_Mutation	SNP	ENST00000606109.1	37	c.665G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	3.168	-0.170709	0.06421	.	.	ENSG00000203786	ENST00000368773	T	0.11385	2.78	4.55	-5.27	0.02763	.	0.659450	0.13458	N	0.386343	T	0.00815	0.0027	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	10	0.26408	T	0.33	-0.0013	1.0904	0.01662	0.4053:0.1534:0.2923:0.1491	.	222	Q5T749	KPRP_HUMAN	Q	222	ENSP00000357762:R222Q	ENSP00000357762:R222Q	R	+	2	0	KPRP	150999353	0.018000	0.18449	0.122000	0.21767	0.061000	0.15899	0.209000	0.17435	-0.854000	0.04131	-0.436000	0.05848	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152732729	G	A	152732729	3	1	53	1	0	0	0	0	1	0	0	0	8436	1116	39	2	667	2	KPRP	1	152732729	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	128074800	152732729	96517892	4	3321											
OR2L8	391190	broad.mit.edu	37	chr1	248112496	248112496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaggtgcagaagcactaCttttggcatctatggcctat	10	12	11	8	0	1	1	0	0	1	1	1	2	1	2	1	4	3	3	1	4	5	6			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:248112496C>A	ENST00000357191.3	+	1	337	c.337C>A	c.(337-339)Ctt>Att	p.L113I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAAGCACTACTTTTGGCATC	0.443																																						uc001idt.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(337-339)Ctt>Att		Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.							300	247	265					1																	248112496		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112496C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.337C>A	1.37:g.248112496C>A	ENSP00000349719:p.Leu113Ile					OR2L13_uc001ids.3_Intron	p.L113I	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	337	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		113					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.337C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	6.333	0.429515	0.11987	.	.	ENSG00000196936	ENST00000357191	T	0.00585	6.39	1.64	0.389	0.16269	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29286	U	0.012584	T	0.00784	0.0026	M	0.71581	2.175	0.09310	N	1	B	0.24675	0.109	B	0.26614	0.071	T	0.42292	-0.9460	10	0.66056	D	0.02	.	6.3399	0.21316	0.194:0.6133:0.1926:0.0	.	113	Q8NGY9	OR2L8_HUMAN	I	113	ENSP00000349719:L113I	ENSP00000349719:L113I	L	+	1	0	OR2L8	246179119	0.000000	0.05858	0.030000	0.17652	0.019000	0.09904	-0.812000	0.04496	0.905000	0.36596	0.479000	0.44913	CTT		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			A	248112496	C	A	248112496	3	1	53	1	0	0	0	0	1	0	0	0	11009	565	20	5	339	5	OR2L8	1	248112496	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	95379767	248112496	1138125	5	3322											
EHD3	30845	broad.mit.edu	37	chr2	31483602	31483602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtggtccttggggaagatCgtgaacaccccagaggtgat	10	9	14	8	1	0	4	0	2	0	2	2	5	1	5	3	4	1	0	3	4	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:31483602C>T	ENST00000322054.5	+	4	1014	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	243	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(727-729)atC>atT		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							104	96	99					2																	31483602		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483602C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.729C>T	2.37:g.31483602C>T						EHD3_uc010ymt.2_Intron	p.I243I	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1337	+	Acute lymphoblastic leukemia(172;0.155)		243					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.729C>T	CCDS1774.1																																																																																				0.592	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31483602	C	T	31483602	2	4	53	1	0	0	0	0	0	0	0	1	4979	874	31	2		2	EHD3	2	31483602	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		31483602	211715771	6	3323											
SLC35F5	80255	broad.mit.edu	37	chr2	114489225	114489225	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagtacaacgcctccaatGctatgagaataacagtcatt	15	9	6	11	1	1	1	1	1	0	1	2	2	2	1	3	0	4	2	3	0	6	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:114489225G>T	ENST00000245680.2	-	10	1334	c.921C>A	c.(919-921)agC>agA	p.S307R	SLC35F5_ENST00000470204.2_5'Flank	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	307	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CGCCTCCAATGCTATGAGAAT	0.373																																						uc002tku.1																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.e10-1		Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.							104	103	103					2																	114489225		2203	4300	6503	SO:0001630	splice_region_variant	80255				transport	integral to membrane		g.chr2:114489225G>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.921-1C>A	2.37:g.114489225G>T						SLC35F5_uc002tkt.3_Splice_Site	p.S307_splice	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			10	1335	-			307			DUF6.		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.921_splice	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.46|16.46	3.129946|3.129946	0.56721|0.56721	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000447673|ENST00000245680;ENST00000409106	.|T;T	.|0.69685	.|-0.42;-0.42	5.89|5.89	2.83|2.83	0.33086|0.33086	.|Drug/metabolite transporter (1);	.|0.044901	.|0.85682	.|D	.|0.000000	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|P	.|0.46457	.|0.878	.|P	.|0.52881	.|0.712	T|T	0.71533|0.71533	-0.4564|-0.4564	5|10	.|0.72032	.|D	.|0.01	.|.	8.4219|8.4219	0.32705|0.32705	0.2655:0.0:0.7345:0.0|0.2655:0.0:0.7345:0.0	.|.	.|307	.|Q8WV83	.|S35F5_HUMAN	N|R	70|307;301	.|ENSP00000245680:S307R;ENSP00000386754:S301R	.|ENSP00000245680:S307R	H|S	-|-	1|3	0|2	SLC35F5|SLC35F5	114205695|114205695	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	1.768000|1.768000	0.38511|0.38511	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	CAT|AGC		0.373	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	Missense_Mutation	T	114489225	G	T	114489225	5	4	53	1	0	0	0	0	0	0	1	0	14592	1333	46	5	674	5	SLC35F5	2	114489225	Splice_Site	SNP	G	TCGA-06-0645-01A-01D-1492-08	83005623	114489225	128710148	7	3324											
GCA	25801	broad.mit.edu	37	chr2	163204201	163204201	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcatattcagacacttaTtcctcagctggtgactccgt	9	12	7	13	1	2	2	2	1	0	1	4	2	4	2	3	1	2	2	3	1	2	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:163204201T>C	ENST00000437150.2	+	2	302	c.141T>C	c.(139-141)taT>taC	p.Y47Y	GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Silent_p.Y28Y|GCA_ENST00000233612.4_Silent_p.Y28Y	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	47					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CAGACACTTATTCCTCAGCTG	0.443																																						uc002ucg.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(139-141)taT>taC		Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.							94	84	87					2																	163204201		2203	4300	6503	SO:0001819	synonymous_variant	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163204201T>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"EF-hand domain containing"	15990	protein-coding gene	gene with protein product		607030	"grancalcin, EF-hand calcium-binding protein"			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.141T>C	2.37:g.163204201T>C							p.Y47Y	NM_012198	NP_036330	P28676	GRAN_HUMAN			1	317	+			47					B2R5X3|Q53TB5|Q59EP3	Silent	SNP	ENST00000437150.2	37	c.141T>C	CCDS2218.1																																																																																				0.443	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		C	163204201	T	C	163204201	2	2	53	1	0	0	0	0	0	0	0	1	6283	1500	52	4		4	GCA	2	163204201	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08	48714976	163204201	79995172	8	3325											
ITGA4	3676	broad.mit.edu	37	chr2	182374515	182374515	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcagcagaagaaagaaaAagacataatgaaaaaaacag	24	5	7	5	0	2	5	1	1	1	4	2	5	2	5	0	0	2	1	0	0	8	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:182374515A>C	ENST00000397033.2	+	16	2256	c.1826A>C	c.(1825-1827)aAa>aCa	p.K609T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	609					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AAGAAAGAAAAAGACATAATG	0.333																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1825-1827)aAa>aCa		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)						69	63	65					2																	182374515		1810	4068	5878	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182374515A>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1826A>C	2.37:g.182374515A>C	ENSP00000380227:p.Lys609Thr					ITGA4_uc010frj.1_Missense_Mutation_p.K91T	p.K609T	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		15	2589	+			609					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1826A>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959902	0.53400	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.43294	0.95;0.95	6.02	4.86	0.63082	Integrin alpha-2 (1);	0.362613	0.34555	N	0.003869	T	0.42562	0.1208	L	0.59436	1.845	0.44117	D	0.996899	P;P	0.40970	0.608;0.734	B;B	0.43413	0.305;0.419	T	0.18272	-1.0342	10	0.20046	T	0.44	.	12.1941	0.54288	0.9336:0.0:0.0664:0.0	.	431;609	Q59H74;P13612	.;ITA4_HUMAN	T	609	ENSP00000380227:K609T;ENSP00000233573:K609T	ENSP00000233573:K609T	K	+	2	0	ITGA4	182082760	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.015000	0.57152	1.092000	0.41356	0.528000	0.53228	AAA		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			C	182374515	A	C	182374515	3	2	53	1	0	0	0	0	1	0	0	0	7878	14	1	5	1888	5	ITGA4	2	182374515	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	19170314	182374515	60824858	9	3326											
COL4A4	1286	broad.mit.edu	37	chr2	227924195	227924195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagacccctctttcccGggggtcccaggtgaccaaat	9	8	10	14	1	1	3	0	2	1	1	3	3	3	3	5	3	0	0	5	3	2	1	rs374356930		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:227924195G>A	ENST00000396625.3	-	28	2516	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P770L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	770	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTTCCCGGGGGTCCCAG	0.612																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2308-2310)cCg>cTg		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.		G	LEU/PRO	0,3654		0,0,1827	99	105	103		2309	6	1	2		103	1,8141		0,1,4070	no	missense	COL4A4	NM_000092.4	98	0,1,5897	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	770/1691	227924195	1,11795	1827	4071	5898	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924195G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2309C>T	2.37:g.227924195G>A	ENSP00000379866:p.Pro770Leu					COL4A4_uc021vxs.1_Missense_Mutation_p.P770L	p.P770L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	26	2410	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	770			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2309C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525636	0.64860	0.0	1.23E-4	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93019	-3.15;-3.15	5.99	5.99	0.97316	.	.	.	.	.	D	0.97005	0.9022	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96356	0.9262	9	0.45353	T	0.12	.	18.2507	0.90002	0.0:0.0:1.0:0.0	.	770	P53420	CO4A4_HUMAN	L	770	ENSP00000379866:P770L;ENSP00000328553:P770L	ENSP00000328553:P770L	P	-	2	0	COL4A4	227632439	1.000000	0.71417	0.956000	0.39512	0.193000	0.23685	4.370000	0.59517	2.840000	0.97914	0.655000	0.94253	CCG		0.612	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227924195	G	A	227924195	3	1	53	1	0	0	0	0	1	0	0	0	3693	1116	39	2	2847	2	COL4A4	2	227924195	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	45549680	227924195	15275178	10	3327											
LTF	4057	broad.mit.edu	37	chr3	46490484	46490484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacacgacccgcgcaCgccgggcagccacttcctcc	8	3	8	22	5	0	0	0	0	0	0	2	1	2	0	6	1	1	2	6	1	0	1	rs563611764		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:46490484C>T	ENST00000231751.4	-	9	1377	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	LTF_ENST00000417439.1_Missense_Mutation_p.R361H|LTF_ENST00000426532.2_Missense_Mutation_p.R317H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	361					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GACCCGCGCACGCCGGGCAGC	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		15948	0		0	False		,,,				2504	0					uc003cpq.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1081-1083)cGt>cAt		Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	Pefloxacin(DB00487)						29	27	28					3																	46490484		2201	4293	6494	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46490484C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1082G>A	3.37:g.46490484C>T	ENSP00000231751:p.Arg361His					LTF_uc003fzr.3_Missense_Mutation_p.R317H|LTF_uc010hjh.3_Missense_Mutation_p.R361H|LTF_uc003cpr.3_Missense_Mutation_p.R348H	p.R361H	NM_002343	NP_001186078	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	8	1323	-			361					A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1082G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322709	0.23994	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	3.55	-0.036	0.13890	.	1.596640	0.02933	N	0.139440	T	0.07954	0.0199	L	0.54323	1.7	0.09310	N	1	B;P;B	0.41188	0.277;0.741;0.277	B;B;B	0.26202	0.06;0.067;0.06	T	0.39781	-0.9597	10	0.48119	T	0.1	0.0225	6.2293	0.20726	0.0:0.5622:0.0:0.4378	.	361;348;361	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	H	361;317;361;348	ENSP00000231751:R361H;ENSP00000405719:R317H;ENSP00000405546:R361H;ENSP00000397427:R348H	ENSP00000231751:R361H	R	-	2	0	LTF	46465488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.693000	0.05121	-0.024000	0.13941	-0.137000	0.14449	CGT		0.667	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		T	46490484	C	T	46490484	3	4	53	1	0	0	0	0	1	0	0	0	9079	536	19	1	1086	1	LTF	3	46490484	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		46490484	151531946	11	3328											
DHX30	22907	broad.mit.edu	37	chr3	47890010	47890010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtccaaacatcaaggcagtgGacgaggctgtgatcttgctc	10	9	12	10	1	2	1	1	1	1	0	4	3	3	2	1	3	2	3	1	3	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:47890010G>A	ENST00000445061.1	+	16	2952	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	DHX30_ENST00000446256.2_Missense_Mutation_p.D810N|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.D821N|DHX30_ENST00000457607.1_Missense_Mutation_p.D877N	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	849						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGGCAGTGGACGAGGCTGT	0.622																																						uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2545-2547)Gac>Aac		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.							116	118	117					3																	47890010		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47890010G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2545G>A	3.37:g.47890010G>A	ENSP00000405620:p.Asp849Asn					DHX30_uc003crt.3_Missense_Mutation_p.D810N|MIR1226_uc021wxj.1_5'Flank	p.D849N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2971	+			849					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2545G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068872	0.20147	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	5.21	4.34	0.51931	.	0.408437	0.28828	N	0.014002	T	0.01627	0.0052	N	0.13198	0.31	0.27082	N	0.963053	B;B	0.27498	0.18;0.006	B;B	0.20767	0.031;0.026	T	0.45920	-0.9228	10	0.13853	T	0.58	.	5.2149	0.15336	0.1703:0.0:0.6539:0.1758	.	849;810	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	N	810;849;821;877	ENSP00000392601:D810N;ENSP00000405620:D849N;ENSP00000343442:D821N;ENSP00000394682:D877N	ENSP00000343442:D821N	D	+	1	0	DHX30	47865014	1.000000	0.71417	0.672000	0.29872	0.939000	0.58152	4.099000	0.57755	1.190000	0.43042	0.655000	0.94253	GAC		0.622	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47890010	G	A	47890010	3	1	53	1	0	0	0	0	1	0	0	0	4504	1174	41	3	2610	3	DHX30	3	47890010	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	1399526	47890010	150132420	12	3329											
IFRD2	7866	broad.mit.edu	37	chr3	50327467	50327467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagggcccagctgcaCgcagagcaggcctagcacag	10	3	14	14	1	0	1	0	0	0	1	1	1	1	1	3	3	4	5	3	3	1	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:50327467C>G	ENST00000429673.2	-	5	630	c.631G>C	c.(631-633)Gtg>Ctg	p.V211L	IFRD2_ENST00000436390.1_Missense_Mutation_p.V147L|IFRD2_ENST00000417626.2_Missense_Mutation_p.V147L|IFRD2_ENST00000336089.4_Missense_Mutation_p.V313L|IFRD2_ENST00000484043.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	211						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCAGCTGCACGCAGAGCAGG	0.637																																						uc003czb.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(937-939)Gtg>Ctg		Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.							32	36	35					3																	50327467		2151	4266	6417	SO:0001583	missense	7866						binding	g.chr3:50327467C>G	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.631G>C	3.37:g.50327467C>G	ENSP00000398971:p.Val211Leu					IFRD2_uc011bdp.2_Missense_Mutation_p.V211L	p.V313L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	7	937	-			211					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.937G>C	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	5.709	0.315304	0.10789	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.73	0.721	0.18219	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.225903	0.39210	N	0.001437	T	0.34919	0.0914	N	0.10972	0.075	0.26237	N	0.978936	B;B	0.20671	0.011;0.047	B;B	0.23716	0.028;0.048	T	0.15037	-1.0451	10	0.21014	T	0.42	-2.8565	5.6486	0.17604	0.0:0.4385:0.1665:0.395	.	211;313	Q12894;Q9UJ88	IFRD2_HUMAN;.	L	147;147;313;211	ENSP00000402849:V147L;ENSP00000392316:V147L;ENSP00000336936:V313L;ENSP00000398971:V211L	ENSP00000336936:V313L	V	-	1	0	IFRD2	50302471	0.551000	0.26497	0.421000	0.26609	0.771000	0.43674	0.375000	0.20518	0.094000	0.17404	0.655000	0.94253	GTG		0.637	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		G	50327467	C	G	50327467	3	3	53	1	0	0	0	0	1	0	0	0	7554	536	19	5	921	5	IFRD2	3	50327467	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	2437457	50327467	147694963	13	3330											
GPR15	2838	broad.mit.edu	37	chr3	98251667	98251667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatactttcaagttcctgGccattgtctctgggttgcgg	6	15	10	10	1	3	0	2	0	1	0	5	0	4	0	2	3	2	2	2	3	3	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:98251667G>A	ENST00000284311.3	+	1	925	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	264					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAAGTTCCTGGCCATTGTCTC	0.453																																						uc011bgy.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(790-792)Gcc>Acc		Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.							89	80	83					3																	98251667		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251667G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.790G>A	3.37:g.98251667G>A	ENSP00000284311:p.Ala264Thr						p.A264T	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	0	790	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	264					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.790G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023386	0.19433	.	.	ENSG00000154165	ENST00000284311	T	0.72167	-0.63	4.39	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.132610	0.33290	N	0.005079	T	0.57902	0.2085	L	0.49513	1.565	0.32907	D	0.514046	B	0.18166	0.026	B	0.24269	0.052	T	0.54899	-0.8224	10	0.26408	T	0.33	-7.5308	3.8884	0.09108	0.1947:0.0:0.6135:0.1919	.	264	P49685	GPR15_HUMAN	T	264	ENSP00000284311:A264T	ENSP00000284311:A264T	A	+	1	0	GPR15	99734357	0.868000	0.29978	1.000000	0.80357	0.986000	0.74619	1.269000	0.33074	0.773000	0.33404	0.655000	0.94253	GCC		0.453	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			A	98251667	G	A	98251667	3	1	53	1	0	0	0	0	1	0	0	0	6655	1203	42	3	792	3	GPR15	3	98251667	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	47924200	98251667	99770763	14	3331											
TRPC1	7220	broad.mit.edu	37	chr3	142524983	142524983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggaaaatctaaacgAactgcgccaagatctgtcaa	16	8	8	9	2	3	1	1	0	2	1	3	3	3	2	1	1	4	0	1	1	8	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:142524983A>G	ENST00000476941.1	+	13	2774	c.2288A>G	c.(2287-2289)gAa>gGa	p.E763G	TRPC1_ENST00000273482.6_Missense_Mutation_p.E729G	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	763					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATCTAAACGAACTGCGCCAA	0.373																																						uc003evc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(2287-2289)gAa>gGa		Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.							96	95	95					3																	142524983		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142524983A>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2288A>G	3.37:g.142524983A>G	ENSP00000419313:p.Glu763Gly					TRPC1_uc003evb.3_Missense_Mutation_p.E729G	p.E763G	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN			12	2424	+			763					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2288A>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282687	0.59867	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.88818	-2.43;-2.43	5.59	5.59	0.84812	.	0.089570	0.85682	N	0.000000	D	0.93697	0.7986	M	0.84846	2.72	0.80722	D	1	B;P	0.52577	0.18;0.954	B;P	0.55871	0.06;0.786	D	0.94619	0.7811	10	0.87932	D	0	-6.7787	15.7661	0.78128	1.0:0.0:0.0:0.0	.	763;729	P48995;P48995-2	TRPC1_HUMAN;.	G	763;729	ENSP00000419313:E763G;ENSP00000273482:E729G	ENSP00000273482:E729G	E	+	2	0	TRPC1	144007673	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	8.942000	0.92970	2.134000	0.65973	0.460000	0.39030	GAA		0.373	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		G	142524983	A	G	142524983	3	3	53	1	0	0	0	0	1	0	0	0	16575	246	9	4	2232	4	TRPC1	3	142524983	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	44273316	142524983	55497447	15	3332											
CPZ	8532	broad.mit.edu	37	chr4	8605806	8605806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgtgctgaggcggacGgcctcccgctgcgcccacgt	3	7	16	15	6	0	1	0	1	0	0	1	2	1	2	3	3	3	2	3	3	0	0			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:8605806G>A	ENST00000360986.4	+	4	774	c.600G>A	c.(598-600)acG>acA	p.T200T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Silent_p.T63T|CPZ_ENST00000315782.6_Silent_p.T189T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	200				T -> M (in Ref. 4; BC006393). {ECO:0000305}.	proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAGGCGGACGGCCTCCCGCT	0.701																																						uc003glm.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(598-600)acG>acA		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.							20	17	18					4																	8605806		2183	4271	6454	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605806G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.600G>A	4.37:g.8605806G>A						CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T189T|CPZ_uc003gln.3_Silent_p.T63T	p.T200T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN			3	774	+			200	T -> M (in Ref. 4; BC006393).				O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.600G>A	CCDS33953.1																																																																																				0.701	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		A	8605806	G	A	8605806	2	1	53	1	0	0	0	0	0	0	0	1	3839	1103	39	2		2	CPZ	4	8605806	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		8605806	182548470	16	3333											
FRAS1	80144	broad.mit.edu	37	chr4	79366682	79366682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgttgatgcaggtgatcGttttggccctgaaactgcca	8	13	12	8	1	0	4	0	4	0	0	1	4	0	4	2	2	3	3	2	2	1	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:79366682G>A	ENST00000325942.6	+	42	6112	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1891H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1891					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGGTGATCGTTTTGGCCCT	0.393																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5671-5673)cGt>cAt		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							104	99	101					4																	79366682		1915	4135	6050	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79366682G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5672G>A	4.37:g.79366682G>A	ENSP00000326330:p.Arg1891His					FRAS1_uc003hkw.3_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.2_Missense_Mutation_p.R311H	p.R1891H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			41	6112	+			1890					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5672G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236243	0.39498	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.51574	2.21;0.7	5.97	5.13	0.70059	.	0.478935	0.24400	N	0.038860	T	0.42108	0.1188	M	0.62723	1.935	0.58432	D	0.999992	B;B	0.20780	0.048;0.023	B;B	0.12156	0.007;0.004	T	0.26780	-1.0093	10	0.15499	T	0.54	.	10.7387	0.46141	0.07:0.1303:0.7997:0.0	.	1891;1891	E9PHH6;A2RRR8	.;.	H	1891	ENSP00000326330:R1891H;ENSP00000264895:R1891H	ENSP00000264895:R1891H	R	+	2	0	FRAS1	79585706	0.444000	0.25649	0.905000	0.35620	0.835000	0.47333	1.369000	0.34227	1.535000	0.49220	0.591000	0.81541	CGT		0.393	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79366682	G	A	79366682	3	1	53	1	0	0	0	0	1	0	0	0	6042	1145	40	1	5838	1	FRAS1	4	79366682	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	70760876	79366682	111787594	17	3334											
ALPK1	80216	broad.mit.edu	37	chr4	113351620	113351620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatatccgtggcacgtGtttattgtcctacagtagtt	9	14	9	9	2	0	1	0	0	0	1	2	1	2	1	3	1	1	4	3	1	5	7			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:113351620G>T	ENST00000458497.1	+	11	1196	c.917G>T	c.(916-918)tGt>tTt	p.C306F	ALPK1_ENST00000177648.9_Missense_Mutation_p.C306F|ALPK1_ENST00000504176.2_Missense_Mutation_p.C228F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	306							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGGCACGTGTTTATTGTCC	0.398																																						uc003ian.4																			0		p.T305T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(916-918)tGt>tTt		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							68	69	69					4																	113351620		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113351620G>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.917G>T	4.37:g.113351620G>T	ENSP00000398048:p.Cys306Phe					ALPK1_uc003iap.4_Missense_Mutation_p.C306F|ALPK1_uc011cfx.2_Missense_Mutation_p.C228F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.C134F	p.C306F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	1144	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	306					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.917G>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035347	0.54896	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.26660	1.72;1.72;1.72	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.58346	-0.7652	10	0.87932	D	0	-18.3789	19.8968	0.96969	0.0:0.0:1.0:0.0	.	228;228;306	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	F	306;306;228	ENSP00000398048:C306F;ENSP00000177648:C306F;ENSP00000426044:C228F	ENSP00000177648:C306F	C	+	2	0	ALPK1	113571069	1.000000	0.71417	0.242000	0.24170	0.211000	0.24417	9.361000	0.97122	2.691000	0.91804	0.655000	0.94253	TGT		0.398	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		T	113351620	G	T	113351620	3	4	53	1	0	0	0	0	1	0	0	0	544	1377	48	5	951	5	ALPK1	4	113351620	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	33984938	113351620	77802656	18	3335											
PRSS48	345062	broad.mit.edu	37	chr4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggtgactcaaggaaaCgtgtgaagtactacgtgtcc	12	9	12	8	2	1	2	1	2	0	0	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:152203364C>T	ENST00000455694.2	+	3	282	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	94	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCAAGGAAACGTGTGAAGTA	0.473																																						uc011cif.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(280-282)Cgt>Tgt		Homo sapiens protease, serine, 48 (PRSS48), mRNA.							304	283	290					4																	152203364		2025	4191	6216	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203364C>T	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.280C>T	4.37:g.152203364C>T	ENSP00000401328:p.Arg94Cys					PRSS48_uc011cig.2_Intron	p.R94C	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			2	280	+			94			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.280C>T	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	C	9.009	0.981957	0.18812	.	.	ENSG00000189099	ENST00000455694	D	0.88975	-2.45	3.77	-0.134	0.13481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.886778	0.09344	N	0.815107	T	0.81044	0.4741	L	0.28740	0.885	0.09310	N	1	B	0.28082	0.2	B	0.32022	0.139	T	0.69416	-0.5151	10	0.56958	D	0.05	.	4.1109	0.10058	0.4723:0.184:0.3437:0.0	.	94	Q7RTY5	PRS48_HUMAN	C	94	ENSP00000401328:R94C	ENSP00000401328:R94C	R	+	1	0	PRSS48	152422814	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.119000	0.15626	-0.072000	0.12864	-0.541000	0.04245	CGT		0.473	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		T	152203364	C	T	152203364	3	4	53	1	0	0	0	0	1	0	0	0	12630	536	19	1	290	1	PRSS48	4	152203364	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	38851744	152203364	38950912	19	3336											
CDH18	1016	broad.mit.edu	37	chr5	19520782	19520782	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacctggccaggcttagaaTtttcacatacaataatatca	14	13	5	9	0	2	1	2	0	0	1	2	1	2	1	2	2	2	1	2	2	7	7			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:19520782T>A	ENST00000507958.1	-	12	2486	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	CDH18_ENST00000506372.1_Missense_Mutation_p.N499I|CDH18_ENST00000511273.1_Missense_Mutation_p.N499I|CDH18_ENST00000382275.1_Missense_Mutation_p.N499I|CDH18_ENST00000502796.1_Missense_Mutation_p.N499I|CDH18_ENST00000274170.4_Missense_Mutation_p.N499I			Q13634	CAD18_HUMAN	cadherin 18, type 2	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCTTAGAATTTTCACATAC	0.393																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1495-1497)aAt>aTt		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							111	114	113					5																	19520782		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520782T>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1496A>T	5.37:g.19520782T>A	ENSP00000425093:p.Asn499Ile					CDH18_uc011cnm.2_Missense_Mutation_p.N499I|CDH18_uc003jgc.3_Missense_Mutation_p.N499I|CDH18_uc021xwu.1_Missense_Mutation_p.N499I	p.N499I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			9	2030	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		499			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1496A>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308820	0.60305	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;1.74;1.74;1.74	5.22	5.22	0.72569	Cadherin (3);Cadherin-like (1);	0.089585	0.85682	D	0.000000	D	0.84174	0.5414	H	0.95114	3.625	0.44880	D	0.997893	P;D	0.60575	0.848;0.988	P;D	0.69654	0.726;0.965	D	0.88934	0.3375	9	.	.	.	.	14.212	0.65771	0.0:0.0:0.0:1.0	.	499;499	B4DHG6;Q13634	.;CAD18_HUMAN	I	499	ENSP00000371710:N499I;ENSP00000425093:N499I;ENSP00000274170:N499I;ENSP00000424931:N499I;ENSP00000422138:N499I;ENSP00000425854:N499I	.	N	-	2	0	CDH18	19556539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.102000	0.63906	0.528000	0.53228	AAT		0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19520782	T	A	19520782	3	1	53	1	0	0	0	0	1	0	0	0	3103	1493	52	5	892	5	CDH18	5	19520782	Missense_Mutation	SNP	T	TCGA-06-0645-01A-01D-1492-08		19520782	161394478	20	3337											
PLCXD3	345557	broad.mit.edu	37	chr5	41382221	41382221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaacttcctgggcaaaaatCgctgggcacattttatttcc	10	13	7	11	1	0	0	0	0	0	0	3	0	2	0	2	2	1	3	2	2	4	5	rs377065100		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428													C|||	1	0.000199681	0	0	5008	,	,		19517	0		0	False		,,,				2504	0.001					uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(517-519)gcG>gcA		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							99	99	99					5																	41382221		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382221C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.519G>A	5.37:g.41382221C>T							p.A173A	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	621	-			173			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.519G>A	CCDS34150.1																																																																																				0.428	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		T	41382221	C	T	41382221	2	4	53	1	0	0	0	0	0	0	0	1	12043	871	31	2		2	PLCXD3	5	41382221	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	21861439	41382221	139533039	21	3338											
FGF18	8817	broad.mit.edu	37	chr5	170883763	170883763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttcaagtacacgaCggtgaccaagaggtcccgtc	11	6	11	13	3	1	2	1	1	0	1	3	4	2	2	3	2	2	1	3	2	4	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:170883763C>T	ENST00000274625.5	+	5	1122	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	193					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTACACGACGGTGACCAAG	0.657																																						uc003mbk.3																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(577-579)aCg>aTg		Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.							35	44	41					5																	170883763		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883763C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.578C>T	5.37:g.170883763C>T	ENSP00000274625:p.Thr193Met						p.T193M	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	1115	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	193					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.578C>T	CCDS4378.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460882	0.84317	.	.	ENSG00000156427	ENST00000274625	T	0.73152	-0.72	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	L	0.32530	0.975	0.58432	D	0.999999	D	0.67145	0.996	P	0.55260	0.772	T	0.74166	-0.3753	10	0.51188	T	0.08	-12.0684	17.2373	0.87002	0.0:1.0:0.0:0.0	.	193	O76093	FGF18_HUMAN	M	193	ENSP00000274625:T193M	ENSP00000274625:T193M	T	+	2	0	FGF18	170816368	1.000000	0.71417	0.944000	0.38274	0.997000	0.91878	7.175000	0.77632	2.618000	0.88619	0.655000	0.94253	ACG		0.657	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		T	170883763	C	T	170883763	3	4	53	1	0	0	0	0	1	0	0	0	5846	536	19	1	596	1	FGF18	5	170883763	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	129501542	170883763	10031497	22	3339											
BCLAF1	9774	broad.mit.edu	37	chr6	136600997	136600997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgatctagaattggagCgacccatttcttttctccta	10	15	7	9	1	3	2	0	1	3	1	4	4	3	3	2	1	1	0	2	1	4	6	rs148729378	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:136600997C>T	ENST00000531224.1	-	3	260	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R3H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R3H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	3					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R3H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAATTGGAGCGACCCATTTC	0.308																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)	p.R3H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(7-9)cGc>cAc		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	79	70	73		8,8,8	5.8	1	6	dbSNP_134	73	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	3/870,3/748,3/921	136600997	2,13004	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136600997C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.8G>A	6.37:g.136600997C>T	ENSP00000435210:p.Arg3His					BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H	p.R3H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	2	261	-	Colorectal(23;0.24)		3					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.8G>A	CCDS5177.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	18.58	3.655620	0.67586	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.28069	2.01;1.85;1.93;1.63;1.93;1.85;1.78	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	T	0.36110	0.0955	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	T	0.10268	-1.0637	10	0.87932	D	0	-3.479	13.5536	0.61747	0.0:0.9288:0.0:0.0712	.	3;3;3;3	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	3	ENSP00000435210:R3H;ENSP00000229446:R3H;ENSP00000435441:R3H;ENSP00000436501:R3H;ENSP00000434826:R3H;ENSP00000376159:R3H;ENSP00000431734:R3H	ENSP00000229446:R3H	R	-	2	0	BCLAF1	136642690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.332000	0.52083	2.890000	0.99128	0.585000	0.79938	CGC		0.308	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136600997	C	T	136600997	3	4	53	1	0	0	0	0	1	0	0	0	1383	768	27	1	2798	1	BCLAF1	6	136600997	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		136600997	34514070	23	3340											
ESR1	2099	broad.mit.edu	37	chr6	152265483	152265483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgtccctgacggcCgaccagatggtcagtgcctt	5	10	12	14	2	1	2	1	1	0	1	2	3	2	2	5	3	1	0	5	3	0	2	rs375030142		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152265483C>T	ENST00000206249.3	+	4	1298	c.936C>T	c.(934-936)gcC>gcT	p.A312A	ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Silent_p.A312A|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000427531.2_Silent_p.A139A|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Silent_p.A312A|ESR1_ENST00000440973.1_Silent_p.A312A	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	312	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A312A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCCTGACGGCCGACCAGATGG	0.547																																						uc010kio.3																			1	Substitution - coding silent(1)	p.A312A(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(940-942)gcC>gcT		Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	C	,,,	0,4406		0,0,2203	116	111	113		936,936,936,936	-6.6	0.5	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	312/596,312/596,312/596,312/596	152265483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265483C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.936C>T	6.37:g.152265483C>T						ESR1_uc003qom.4_Silent_p.A312A|ESR1_uc010kin.3_Silent_p.A312A|ESR1_uc010kip.3_Silent_p.A311A|ESR1_uc003qon.4_Silent_p.A312A|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.A312A|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.2_Silent_p.A49A	p.A314A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	1160	+		Ovarian(120;0.0448)	312			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.942C>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330717	0.24167	0.0	1.16E-4	ENSG00000091831	ENST00000427531	.	.	.	5.66	-6.63	0.01807	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	.	6.3233	0.21229	0.2155:0.3485:0.0:0.436	.	.	.	.	L	217	.	.	P	+	2	0	ESR1	152307176	0.006000	0.16342	0.541000	0.28102	0.919000	0.55068	-1.205000	0.03014	-1.331000	0.02252	-0.290000	0.09829	CCG		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			T	152265483	C	T	152265483	2	4	53	1	0	0	0	0	0	0	0	1	5256	639	23	2		2	ESR1	6	152265483	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	15664486	152265483	18849584	24	3341											
SYNE1	23345	broad.mit.edu	37	chr6	152461284	152461284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctggagaagctcccatCggtcaatcacacctggcaag	10	6	12	13	1	2	1	2	0	0	1	4	2	3	1	3	4	1	2	3	4	3	0	rs556231915		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152461284C>T	ENST00000367255.5	-	140	25860	c.25259G>A	c.(25258-25260)cGa>cAa	p.R8420Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.R8032Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8372Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8372Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R575Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8420Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R598Q|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2944Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8420					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTCCCATCGGTCAATCAC	0.458										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25258-25260)cGa>cAa		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							110	94	99					6																	152461284		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461284C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25259G>A	6.37:g.152461284C>T	ENSP00000356224:p.Arg8420Gln	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8420Q|SYNE1_uc011eez.2_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R622Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1343Q	p.R8420Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25482	-		Ovarian(120;0.0955)	8420					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25259G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825924	0.90955	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.60797	0.26;4.38;1.11;0.32;0.16;0.32;0.39;2.2;1.29;4.4	5.92	5.92	0.95590	.	0.000000	0.50627	D	0.000119	T	0.77928	0.4204	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.982	T	0.78198	-0.2297	10	0.51188	T	0.08	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	8420;8420;8372;8372;622	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Q	8420;575;1066;8372;8420;8372;8032;2944;605;600;1365;598	ENSP00000356224:R8420Q;ENSP00000441052:R575Q;ENSP00000356226:R1066Q;ENSP00000396024:R8372Q;ENSP00000265368:R8420Q;ENSP00000390975:R8372Q;ENSP00000341887:R8032Q;ENSP00000349276:R2944Q;ENSP00000356220:R1365Q;ENSP00000346701:R598Q	ENSP00000265368:R8420Q	R	-	2	0	SYNE1	152502977	1.000000	0.71417	0.990000	0.47175	0.438000	0.31896	7.813000	0.86123	2.813000	0.96785	0.561000	0.74099	CGA		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152461284	C	T	152461284	3	4	53	1	0	0	0	0	1	0	0	0	15442	884	31	2	1162	2	SYNE1	6	152461284	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	195801	152461284	18653783	25	3342											
ADAM22	53616	broad.mit.edu	37	chr7	87795154	87795154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggatctcaggtttgcaGtaatgagctgaagtgtgtgt	8	16	13	4	0	1	2	1	2	1	0	2	3	1	3	0	2	2	4	0	2	2	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:87795154G>A	ENST00000265727.7	+	24	2163	c.2084G>A	c.(2083-2085)aGt>aAt	p.S695N	ADAM22_ENST00000315984.7_Missense_Mutation_p.S695N|ADAM22_ENST00000398209.3_Missense_Mutation_p.S695N|ADAM22_ENST00000398204.4_Missense_Mutation_p.S695N|ADAM22_ENST00000398201.4_Missense_Mutation_p.S695N			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	695	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTTTGCAGTAATGAGCTG	0.368																																						uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2083-2085)aGt>aAt		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							126	118	120					7																	87795154		1895	4111	6006	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87795154G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2084G>A	7.37:g.87795154G>A	ENSP00000265727:p.Ser695Asn					ADAM22_uc003ujk.2_Missense_Mutation_p.S695N|ADAM22_uc003ujl.2_Missense_Mutation_p.S695N|ADAM22_uc003ujm.3_Missense_Mutation_p.S695N|ADAM22_uc003ujo.3_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N	p.S695N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2299	+	Esophageal squamous(14;0.00202)		695			EGF-like.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2084G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516091	0.64634	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.43688	4.92;4.86;4.84;4.83;4.85;4.85;0.94	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	N	0.12637	0.245	0.80722	D	1	P;P;P;D	0.65815	0.742;0.832;0.742;0.995	B;P;B;D	0.80764	0.387;0.591;0.236;0.994	T	0.35325	-0.9793	10	0.17369	T	0.5	.	18.6828	0.91553	0.0:0.0:1.0:0.0	.	747;695;695;695	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	N	695;695;695;695;695;662;53	ENSP00000381262:S695N;ENSP00000381260:S695N;ENSP00000265727:S695N;ENSP00000315900:S695N;ENSP00000381267:S695N;ENSP00000381261:S662N;ENSP00000396233:S53N	ENSP00000265727:S695N	S	+	2	0	ADAM22	87633090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.782000	0.95742	0.650000	0.86243	AGT		0.368	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		A	87795154	G	A	87795154	3	1	53	1	0	0	0	0	1	0	0	0	244	1029	36	3	2178	3	ADAM22	7	87795154	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		87795154	71343509	26	3343											
ZNF3	7551	broad.mit.edu	37	chr7	99672770	99672770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttacccagtgagaacaCattcccgtaattctccagca	11	10	5	15	1	1	1	0	1	1	1	4	2	3	1	4	0	3	2	4	0	3	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:99672770C>G	ENST00000424697.1	-	5	565	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	ZNF3_ENST00000413658.2_Missense_Mutation_p.V87L|ZNF3_ENST00000299667.4_Missense_Mutation_p.V87L|ZNF3_ENST00000303915.6_Missense_Mutation_p.V87L	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGTGAGAACACATTCCCGTAA	0.458																																						uc003uss.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(280-282)Gtg>Ctg		Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.							154	159	157					7																	99672770		2188	4295	6483	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99672770C>G	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.259G>C	7.37:g.99672770C>G	ENSP00000415358:p.Val87Leu					ZNF3_uc003usp.3_Missense_Mutation_p.V87L|ZNF3_uc003usq.3_Missense_Mutation_p.V87L|ZNF3_uc010lgj.3_Missense_Mutation_p.V51L|ZNF3_uc003usr.3_Missense_Mutation_p.V87L|ZNF3_uc003ust.4_Missense_Mutation_p.V87L	p.V94L			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		1	598	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	87			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.280G>C	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412271	0.62511	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068	T;T;T;T;T;T;T;T;T	0.01005	5.45;5.45;5.45;5.45;5.45;5.45;5.45;5.45;5.45	5.08	5.08	0.68730	Krueppel-associated box (4);	0.000000	0.43110	D	0.000606	T	0.00608	0.0020	N	0.03881	-0.34	0.31980	N	0.605979	B;B;B	0.25904	0.098;0.098;0.137	B;B;B	0.31869	0.08;0.137;0.058	T	0.32981	-0.9886	10	0.02654	T	1	-9.6509	11.6465	0.51263	0.0:0.8211:0.1789:0.0	.	70;87;87	B3KRP4;P17036;P17036-2	.;ZNF3_HUMAN;.	L	87;87;87;87;51;87;87;51;87	ENSP00000399951:V87L;ENSP00000415358:V87L;ENSP00000306372:V87L;ENSP00000299667:V87L;ENSP00000416088:V51L;ENSP00000405970:V87L;ENSP00000388042:V87L;ENSP00000394113:V51L;ENSP00000416686:V87L	ENSP00000299667:V87L	V	-	1	0	ZNF3	99510706	0.004000	0.15560	0.957000	0.39632	0.919000	0.55068	0.195000	0.17155	2.637000	0.89404	0.650000	0.86243	GTG		0.458	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		G	99672770	C	G	99672770	3	3	53	1	0	0	0	0	1	0	0	0	17826	478	17	5	1218	5	ZNF3	7	99672770	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	11877616	99672770	59465893	27	3344											
MUC17	140453	broad.mit.edu	37	chr7	100674888	100674888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcttaaacaggttctgCggcaaacaccgccacaggta	12	9	9	11	2	2	0	0	0	2	0	2	0	2	0	2	3	3	4	2	3	5	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:100674888C>T	ENST00000306151.4	+	3	255	c.191C>T	c.(190-192)gCg>gTg	p.A64V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	64					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGGTTCTGCGGCAAACACC	0.418																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(190-192)gCg>gTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							68	66	67					7																	100674888		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674888C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.191C>T	7.37:g.100674888C>T	ENSP00000302716:p.Ala64Val					MUC17_uc010lho.1_Non-coding_Transcript	p.A64V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	244	+	Lung NSC(181;0.136)|all_lung(186;0.182)		64					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.191C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.404427	0.01155	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.902	-1.8	0.07907	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B	0.28667	0.219	B	0.11329	0.006	T	0.42716	-0.9435	9	0.31617	T	0.26	.	7.1277	0.25482	0.0:0.4802:0.0:0.5198	.	64	Q685J3	MUC17_HUMAN	V	64	ENSP00000302716:A64V	ENSP00000302716:A64V	A	+	2	0	MUC17	100461608	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.771000	0.00099	-2.432000	0.00556	-2.544000	0.00179	GCG		0.418	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100674888	C	T	100674888	3	4	53	1	0	0	0	0	1	0	0	0	9974	768	27	1	201	1	MUC17	7	100674888	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	1002118	100674888	58463775	28	3345											
CCDC136	64753	broad.mit.edu	37	chr7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-																															aagaggaggaagaagaggtgGaagaagaagaagaacaagtg																										TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:128434467_128434469delGAA	ENST00000297788.4	+	2	449_451	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	32	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552																																						uc003vnv.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(82-84)gaadel		Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.			,	48,4104		6,36,2034					,	-6.6	0			26	80,7936		7,66,3935	no	coding,coding	CCDC136	NM_022742.4,NM_001201372.1	,	13,102,5969	A1A1,A1R,RR		0.998,1.1561,1.0519	,	,		128,12040				SO:0001651	inframe_deletion	64753					integral to membrane	protein binding	g.chr7:128434467_128434469delGAA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.82_84delGAA	7.37:g.128434476_128434478delGAA	ENSP00000297788:p.Glu32del					CCDC136_uc003vnu.2_In_Frame_Del_p.E82del	p.E32del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			1	498_500	+			32			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	In_Frame_Del	DEL	ENST00000297788.4	37	c.82_84delGAA	CCDS47704.1																																																																																				0.552	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		-	128434469	GAA	-	128434467	7	5	53	1	0	1	0	1	0	0	0	0	2770	1175	41	0	88	0	CCDC136	7	128434467	In_Frame_Del	DEL	GAA	TCGA-06-0645-01A-01D-1492-08	27759579	128434467	30704196	29	3346											
TAS2R41	259287	broad.mit.edu	37	chr7	143174982	143174982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagcagcactgaCggccttcttcgtgttgctct	8	11	10	12	2	2	2	0	1	2	1	3	2	2	2	1	1	4	5	1	1	2	3	rs371232991		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143174982C>T	ENST00000408916.1	+	1	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	6					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACTGACGGCCTTCTTC	0.572													C|||	1	0.000199681	0	0	5008	,	,		19501	0.001		0	False		,,,				2504	0					uc003wdc.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(16-18)aCg>aTg		Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.		C	MET/THR	1,4159		0,1,2079	118	114	115		17	1	0	7		115	1,8447		0,1,4223	no	missense	TAS2R41	NM_176883.2	81	0,2,6302	TT,TC,CC		0.0118,0.024,0.0159	possibly-damaging	6/308	143174982	2,12606	2080	4224	6304	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143174982C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.17C>T	7.37:g.143174982C>T	ENSP00000386201:p.Thr6Met					LOC285965_uc003wda.3_Intron	p.T6M	NM_176883	NP_795364	P59536	T2R41_HUMAN			0	17	+	Melanoma(164;0.15)		6					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.17C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.824886	0.16678	2.4E-4	1.18E-4	ENSG00000221855	ENST00000408916	T	0.37752	1.18	4.99	1.05	0.20165	.	0.894418	0.09257	U	0.827101	T	0.30603	0.0770	L	0.37850	1.14	0.09310	N	1	P	0.52061	0.95	P	0.48270	0.572	T	0.13710	-1.0499	10	0.42905	T	0.14	.	2.9984	0.06005	0.1325:0.5246:0.1205:0.2223	.	6	P59536	T2R41_HUMAN	M	6	ENSP00000386201:T6M	ENSP00000386201:T6M	T	+	2	0	TAS2R41	142885104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	0.034000	0.15491	-2.246000	0.00285	ACG		0.572	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			T	143174982	C	T	143174982	3	4	53	1	0	0	0	0	1	0	0	0	15576	536	19	1	19	1	TAS2R41	7	143174982	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	14740515	143174982	15963681	30	3347											
TAS2R41	259287	broad.mit.edu	37	chr7	143175836	143175836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcagcaacctcaagcttCgaagcgtgttctcgcagctc	8	11	8	14	3	4	0	2	0	2	0	7	1	4	0	1	0	5	5	1	0	3	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143175836C>T	ENST00000408916.1	+	1	871	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	291					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTCAAGCTTCGAAGCGTGTT	0.502																																						uc003wdc.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(871-873)Cga>Tga		Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.							114	105	108					7																	143175836		2055	4199	6254	SO:0001587	stop_gained	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175836C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.871C>T	7.37:g.143175836C>T	ENSP00000386201:p.Arg291*					LOC285965_uc003wda.3_Intron	p.R291*	NM_176883	NP_795364	P59536	T2R41_HUMAN			0	871	+	Melanoma(164;0.15)		291					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Nonsense_Mutation	SNP	ENST00000408916.1	37	c.871C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805573	0.31961	.	.	ENSG00000221855	ENST00000408916	.	.	.	6.0	5.08	0.68730	.	0.331818	0.24945	U	0.034348	.	.	.	.	.	.	0.33900	D	0.638436	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0643	0.64819	0.0:0.8363:0.1637:0.0	.	.	.	.	X	291	.	ENSP00000386201:R291X	R	+	1	2	TAS2R41	142885958	0.000000	0.05858	0.117000	0.21633	0.088000	0.18126	0.352000	0.20113	2.848000	0.98002	0.655000	0.94253	CGA		0.502	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			T	143175836	C	T	143175836	4	4	53	1	0	0	0	0	0	1	0	0	15576	876	31	2	873	2	TAS2R41	7	143175836	Nonsense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	854	143175836	15962827	31	3348											
KCNB2	9312	broad.mit.edu	37	chr8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgacgataatcacctgtCgccaagccggtggaagtggg	9	6	14	12	5	1	0	1	0	0	0	2	3	1	1	4	3	1	0	4	3	3	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATCACCTGTCGCCAAGCCGG	0.527																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1462-1464)tCg>tTg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							86	94	91					8																	73849053		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849053C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1463C>T	8.37:g.73849053C>T	ENSP00000430846:p.Ser488Leu						p.S488L	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	2051	+	Breast(64;0.137)		488					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1463C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936967	0.73557	.	.	ENSG00000182674	ENST00000523207	T	0.38240	1.15	5.47	5.47	0.80525	.	1.757760	0.03216	N	0.176869	T	0.65365	0.2684	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.70016	0.967	T	0.46596	-0.9180	10	0.42905	T	0.14	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	488	Q92953	KCNB2_HUMAN	L	488	ENSP00000430846:S488L	ENSP00000430846:S488L	S	+	2	0	KCNB2	74011607	1.000000	0.71417	0.972000	0.41901	0.573000	0.36030	7.666000	0.83877	2.553000	0.86117	0.655000	0.94253	TCG		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73849053	C	T	73849053	3	4	53	1	0	0	0	0	1	0	0	0	8013	893	31	2	1469	2	KCNB2	8	73849053	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		73849053	72514969	32	3349											
KIAA1429	25962	broad.mit.edu	37	chr8	95547143	95547143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggagagtcTctgtcatgacttatcactct	6	14	14	7	0	4	2	2	1	2	1	5	3	4	2	0	5	0	0	0	5	1	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:95547143T>C	ENST00000297591.5	-	5	483	c.408A>G	c.(406-408)agA>agG	p.R136R	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000421249.2_Silent_p.R136R|KIAA1429_ENST00000437199.1_Silent_p.R136R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	136					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			gtggAGAGTCTCTGTCATGAC	0.448																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(406-408)agA>agG		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							122	107	112					8																	95547143		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95547143T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.408A>G	8.37:g.95547143T>C						KIAA1429_uc003ygp.3_Silent_p.R136R	p.R136R	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		4	479	-	Breast(36;3.29e-05)		136					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.408A>G	CCDS34923.1																																																																																				0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		C	95547143	T	C	95547143	2	2	53	1	0	0	0	0	0	0	0	1	8231	1548	54	4		4	KIAA1429	8	95547143	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08	21698090	95547143	50816879	33	3350											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtaccagtcttctgaatGatgatgtgaccccggctgca	11	10	10	10	1	2	4	0	4	2	0	2	4	2	4	3	1	2	3	3	1	3	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443										HNSCC(38;0.096)																												uc003yne.3																			2	Substitution - Missense(2)	p.D2557N(2)	lung(2)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7663-7665)Gat>Aat		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							105	103	104					8																	110476724		1986	4154	6140	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476724G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7663G>A	8.37:g.110476724G>A	ENSP00000367655:p.Asp2555Asn	HNSCC(38;0.096)					p.D2555N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		48	7767	+			2555					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7663G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686544	0.88639	.	.	ENSG00000205038	ENST00000378402	D	0.87729	-2.29	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.90759	3.145	0.44595	D	0.99756	P	0.41546	0.754	P	0.49047	0.599	D	0.90146	0.4217	10	0.15952	T	0.53	.	16.9905	0.86352	0.0:0.0:1.0:0.0	.	2555	Q86WI1	PKHL1_HUMAN	N	2555	ENSP00000367655:D2555N	ENSP00000367655:D2555N	D	+	1	0	PKHD1L1	110545900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.378000	0.90144	2.610000	0.88304	0.655000	0.94253	GAT		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110476724	G	A	110476724	3	1	53	1	0	0	0	0	1	0	0	0	11972	1290	45	3	7857	3	PKHD1L1	8	110476724	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	14929581	110476724	35887298	34	3351											
SLC45A4	57210	broad.mit.edu	37	chr8	142229845	142229845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctcggtggcatcggCgctgaagtccaggaccacca	7	5	14	15	3	0	1	0	1	0	0	3	2	1	2	5	5	0	2	5	5	1	0			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:142229845C>T	ENST00000024061.3	-	3	668	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A121T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A114T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A172T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGCATCGGCGCTGAAGTCC	0.657																																						uc003ywd.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(361-363)Gcc>Acc		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							81	53	62					8																	142229845		2202	4300	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229845C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.361G>A	8.37:g.142229845C>T	ENSP00000024061:p.Ala121Thr					SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	p.A121T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	669	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		172					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.361G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	37	6.157887	0.97334	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.97110	1.0;1.0;0.98	D	0.93463	0.6812	10	0.87932	D	0	-26.1394	19.368	0.94471	0.0:1.0:0.0:0.0	.	172;121;121	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	121;172;114;121	ENSP00000429059:A121T;ENSP00000428137:A172T;ENSP00000400799:A114T;ENSP00000024061:A121T	ENSP00000024061:A121T	A	-	1	0	SLC45A4	142299027	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	7.272000	0.78516	2.572000	0.86782	0.563000	0.77884	GCC		0.657	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		T	142229845	C	T	142229845	3	4	53	1	0	0	0	0	1	0	0	0	14643	768	27	1	2059	1	SLC45A4	8	142229845	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	31753121	142229845	4134177	35	3352											
CYLC2	1539	broad.mit.edu	37	chr9	105767804	105767804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtctaagaaggacgccacGaaagatgccaagaaagttgc	16	5	12	8	2	1	3	0	0	1	3	1	6	1	4	2	1	2	1	2	1	5	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr9:105767804G>A	ENST00000374798.3	+	5	961	c.891G>A	c.(889-891)acG>acA	p.T297T	CYLC2_ENST00000487798.1_Silent_p.T297T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	297	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.T297T(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggacgccacgaaagatgcca	0.388																																						uc004bbs.2																			2	Substitution - coding silent(2)	p.T297T(4)|p.A296A(1)|p.T297M(1)	stomach(1)|skin(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(889-891)acG>acA		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							70	67	68					9																	105767804		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767804G>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.891G>A	9.37:g.105767804G>A							p.T297T	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	961	+		all_hematologic(171;0.125)	297			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.891G>A	CCDS35085.1																																																																																				0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		A	105767804	G	A	105767804	2	1	53	1	0	0	0	0	0	0	0	1	4142	1045	37	2		2	CYLC2	9	105767804	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		105767804	35445627	36	3353											
SMC3	9126	broad.mit.edu	37	chr10	112328741	112328741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagatcaaacaattgtaGatcccttcagttcaaaacat	17	10	5	9	0	3	2	3	0	0	2	4	3	4	2	1	0	2	2	1	0	5	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112328741G>C	ENST00000361804.4	+	2	187	c.61G>C	c.(61-63)Gat>Cat	p.D21H	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	21					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACAATTGTAGATCCCTTCAG	0.308																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(61-63)Gat>Cat		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							184	182	183					10																	112328741		2203	4298	6501	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112328741G>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.61G>C	10.37:g.112328741G>C	ENSP00000354720:p.Asp21His						p.D21H	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	1	187	+		Breast(234;0.0848)|Lung NSC(174;0.238)	21					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.61G>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721833	0.89298	.	.	ENSG00000108055	ENST00000361804	D	0.91577	-2.87	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	P	0.55055	0.767	D	0.93147	0.6546	10	0.87932	D	0	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	21	Q9UQE7	SMC3_HUMAN	H	21	ENSP00000354720:D21H	ENSP00000354720:D21H	D	+	1	0	SMC3	112318731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.587000	0.87381	0.563000	0.77884	GAT		0.308	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		C	112328741	G	C	112328741	3	2	53	1	0	0	0	0	1	0	0	0	14784	942	33	5	67	5	SMC3	10	112328741	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		112328741	23206006	37	3354											
SMC3	9126	broad.mit.edu	37	chr10	112341821	112341821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaatataccatttacaatCaggaacttaacgagactcgt	15	11	7	8	2	1	1	1	0	0	1	2	4	1	3	1	2	4	0	1	2	7	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112341821C>G	ENST00000361804.4	+	9	814	c.688C>G	c.(688-690)Cag>Gag	p.Q230E		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	230					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CATTTACAATCAGGAACTTAA	0.343																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(688-690)Cag>Gag		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							126	132	130					10																	112341821		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112341821C>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.688C>G	10.37:g.112341821C>G	ENSP00000354720:p.Gln230Glu						p.Q230E	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	8	814	+		Breast(234;0.0848)|Lung NSC(174;0.238)	230					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.688C>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561501	0.65538	.	.	ENSG00000108055	ENST00000361804	T	0.75260	-0.92	5.4	5.4	0.78164	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	L	0.46157	1.445	0.80722	D	1	B	0.28971	0.229	B	0.28305	0.088	T	0.64512	-0.6390	10	0.09338	T	0.73	.	19.1693	0.93570	0.0:1.0:0.0:0.0	.	230	Q9UQE7	SMC3_HUMAN	E	230	ENSP00000354720:Q230E	ENSP00000354720:Q230E	Q	+	1	0	SMC3	112331811	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.523000	0.85059	0.591000	0.81541	CAG		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		G	112341821	C	G	112341821	3	3	53	1	0	0	0	0	1	0	0	0	14784	827	29	5	722	5	SMC3	10	112341821	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	13080	112341821	23192926	38	3355											
NHLRC2	374354	broad.mit.edu	37	chr10	115668096	115668096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatagagaacatttccaGtcaaccaacaatttcactac	17	10	4	10	0	2	2	2	0	0	2	3	3	3	2	2	0	4	0	2	0	7	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:115668096G>A	ENST00000369301.3	+	11	2194	c.1982G>A	c.(1981-1983)aGt>aAt	p.S661N		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	661										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AACATTTCCAGTCAACCAACA	0.348																																						uc001lax.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1981-1983)aGt>aAt		Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.							136	123	127					10																	115668096		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115668096G>A	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1982G>A	10.37:g.115668096G>A	ENSP00000358307:p.Ser661Asn					NHLRC2_uc001lay.2_Non-coding_Transcript	p.S661N	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	10	2223	+			661					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1982G>A	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	1.535	-0.543433	0.04053	.	.	ENSG00000196865	ENST00000369301	T	0.42513	0.97	5.77	-8.17	0.01057	.	1.003600	0.08018	N	0.991564	T	0.13756	0.0333	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39800	-0.9596	10	0.16420	T	0.52	-6.1844	11.2993	0.49295	0.2949:0.191:0.5141:0.0	.	661	Q8NBF2	NHLC2_HUMAN	N	661	ENSP00000358307:S661N	ENSP00000358307:S661N	S	+	2	0	NHLRC2	115658086	0.000000	0.05858	0.033000	0.17914	0.244000	0.25665	-1.013000	0.03645	-1.168000	0.02776	-0.290000	0.09829	AGT		0.348	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		A	115668096	G	A	115668096	3	1	53	1	0	0	0	0	1	0	0	0	10406	1029	36	3	2024	3	NHLRC2	10	115668096	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	3326275	115668096	19866651	39	3356											
DAGLA	747	broad.mit.edu	37	chr11	61490356	61490356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgatcgagttcatctaCgccatcgtgggcatcgtctg	6	12	12	11	4	3	1	1	1	2	0	6	2	3	1	1	2	1	2	1	2	1	2	rs374808753		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:61490356C>T	ENST00000257215.5	+	4	449	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	111					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGTTCATCTACGCCATCGTGG	0.607																																						uc001nsa.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(331-333)taC>taT		Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.		C		1,4403	2.1+/-5.4	0,1,2201	248	163	192		333	-6.6	0.7	11		192	0,8598		0,0,4299	no	coding-synonymous	DAGLA	NM_006133.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		111/1043	61490356	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61490356C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.333C>T	11.37:g.61490356C>T							p.Y111Y	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	449	+			111					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.333C>T	CCDS31578.1																																																																																				0.607	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61490356	C	T	61490356	2	4	53	1	0	0	0	0	0	0	0	1	4226	547	19	1		1	DAGLA	11	61490356	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		61490356	73516160	40	3357											
CPT1A	1374	broad.mit.edu	37	chr11	68579934	68579934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtccgattgatttttgcAattattcctaacgaggggtc	10	14	10	7	2	0	2	0	1	0	1	3	4	2	2	2	2	2	1	2	2	3	6			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:68579934A>G	ENST00000265641.5	-	3	406	c.252T>C	c.(250-252)atT>atC	p.I84I	CPT1A_ENST00000540367.1_Silent_p.I84I|CPT1A_ENST00000539743.1_Silent_p.I84I|CPT1A_ENST00000376618.2_Silent_p.I84I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	84					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATTTTTGCAATTATTCCTA	0.473																																						uc001oog.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(250-252)atT>atC		Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)						173	157	163					11																	68579934		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68579934A>G	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.252T>C	11.37:g.68579934A>G						CPT1A_uc001oof.4_Silent_p.I84I	p.I84I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		2	422	-	Esophageal squamous(3;3.28e-14)		84					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.252T>C	CCDS8185.1																																																																																				0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		G	68579934	A	G	68579934	2	3	53	1	0	0	0	0	0	0	0	1	3831	126	5	4		4	CPT1A	11	68579934	Silent	SNP	A	TCGA-06-0645-01A-01D-1492-08	7089578	68579934	66426582	41	3358											
P2RY2	5029	broad.mit.edu	37	chr11	72945705	72945705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcctgccaggccccCgtgctctactttgtcaccac	4	10	10	17	1	2	0	1	0	1	0	2	0	2	0	5	2	4	2	5	2	1	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:72945705C>T	ENST00000311131.2	+	3	968	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_ENST00000393596.2_Silent_p.P167P|P2RY2_ENST00000393597.2_Silent_p.P167P	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	167					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721																																						uc021qna.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(499-501)ccC>ccT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)						22	25	24					11																	72945705		2197	4285	6482	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945705C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.501C>T	11.37:g.72945705C>T						P2RY2_uc001otk.3_Silent_p.P167P|P2RY2_uc001otj.3_Silent_p.P167P|P2RY2_uc001otl.3_Silent_p.P167P	p.P167P	NM_176072	NP_788086	P41231	P2RY2_HUMAN			0	501	+			167					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.501C>T	CCDS8219.1																																																																																				0.721	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945705	C	T	72945705	2	4	53	1	0	0	0	0	0	0	0	1	11352	639	23	2		2	P2RY2	11	72945705	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	4365771	72945705	62060811	42	3359											
ST14	6768	broad.mit.edu	37	chr11	130069961	130069961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccagggccacatctgCggtgcttccctcatctctcc	4	10	10	17	1	3	0	1	0	2	0	6	0	5	0	4	3	2	1	4	3	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:130069961C>T	ENST00000278742.5	+	16	2341	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	641	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCACATCTGCGGTGCTTCCC	0.627																																						uc001qfw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1921-1923)tgC>tgT		Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	Urokinase(DB00013)						70	59	62					11																	130069961		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130069961C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1923C>T	11.37:g.130069961C>T							p.C641C	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	15	2116	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	641			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1923C>T	CCDS8487.1																																																																																				0.627	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			T	130069961	C	T	130069961	2	4	53	1	0	0	0	0	0	0	0	1	15210	776	27	1		1	ST14	11	130069961	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	57124256	130069961	4936555	43	3360											
SLC38A2	54407	broad.mit.edu	37	chr12	46757576	46757576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatagcaaaaaatgaaatCttggacacattcatcattct	18	11	4	8	0	4	1	2	1	2	0	4	2	4	2	0	1	2	1	0	1	6	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:46757576C>T	ENST00000256689.5	-	12	1431	c.987G>A	c.(985-987)aaG>aaA	p.K329K	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Silent_p.K167K	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	329					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAAATGAAATCTTGGACACAT	0.353																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(985-987)aaG>aaA		Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.							112	110	110					12																	46757576		2202	4299	6501	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757576C>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.987G>A	12.37:g.46757576C>T						SLC38A2_uc010sli.2_Silent_p.K167K|SLC38A2_uc001rph.3_Silent_p.K229K	p.K329K	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	11	1427	-	Lung SC(27;0.192)|Renal(347;0.236)		329					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.987G>A	CCDS8749.1																																																																																				0.353	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			T	46757576	C	T	46757576	2	4	53	1	0	0	0	0	0	0	0	1	14604	912	32	3		3	SLC38A2	12	46757576	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		46757576	87094319	44	3361											
BAZ2A	11176	broad.mit.edu	37	chr12	57005685	57005685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctggggaagttacgggaGaggcttttggggatgtcact	7	11	17	6	1	1	1	1	0	0	1	1	4	1	3	0	6	2	3	0	6	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:57005685G>A	ENST00000551812.1	-	6	1680	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	BAZ2A_ENST00000179765.5_Missense_Mutation_p.S464F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S494F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S466F	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	496					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTTACGGGAGAGGCTTTTGG	0.542																																						uc001slq.1																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1486-1488)tCt>tTt		Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.							48	51	50					12																	57005685		1942	4162	6104	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005685G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1487C>T	12.37:g.57005685G>A	ENSP00000446880:p.Ser496Phe					BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F	p.S496F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			5	1681	-			496					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1487C>T	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.60|15.60	2.881290|2.881290	0.51801|0.51801	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000551996|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.68025	.|-0.29;-0.29;-0.3;-0.3	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.390767	.|0.25964	.|N	.|0.027164	T|T	0.69797|0.69797	0.3151|0.3151	N|N	0.14661|0.14661	0.345|0.345	0.41576|0.41576	D|D	0.988711|0.988711	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.85130	.|0.997;0.994	T|T	0.75625|0.75625	-0.3253|-0.3253	5|10	.|0.87932	.|D	.|0	.|.	16.5201|16.5201	0.84311|0.84311	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|494;496	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	F|F	144|466;464;496;494	.|ENSP00000368754:S466F;ENSP00000179765:S464F;ENSP00000446880:S496F;ENSP00000447941:S494F	.|ENSP00000179765:S464F	L|S	-|-	1|2	0|0	BAZ2A|BAZ2A	55291952|55291952	0.989000|0.989000	0.36119|0.36119	0.985000|0.985000	0.45067|0.45067	0.748000|0.748000	0.42578|0.42578	1.536000|1.536000	0.36072|0.36072	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	CTC|TCT		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		A	57005685	G	A	57005685	3	1	53	1	0	0	0	0	1	0	0	0	1331	942	33	3	4326	3	BAZ2A	12	57005685	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	10248109	57005685	76846210	45	3362											
ALDH1L2	160428	broad.mit.edu	37	chr12	105455479	105455479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccgttgaaaagtactGagaggcagggatcatttttc	11	11	10	9	1	2	2	2	2	0	1	3	4	2	3	1	2	1	3	1	2	3	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:105455479G>T	ENST00000258494.9	-	8	1113	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.Q325K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	325					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAAAAGTACTGAGAGGCAGGG	0.408																																						uc001tlc.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(973-975)Cag>Aag		Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							156	144	148					12																	105455479		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105455479G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.973C>A	12.37:g.105455479G>T	ENSP00000258494:p.Gln325Lys					ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	p.Q325K	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			7	1100	-			325					Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.973C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126855	0.20959	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.41400	1.0;1.0	5.9	4.94	0.65067	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.047139	0.85682	D	0.000000	T	0.16342	0.0393	N	0.02876	-0.465	0.43890	D	0.99651	B	0.02656	0.0	B	0.06405	0.002	T	0.16364	-1.0405	10	0.02654	T	1	.	11.4855	0.50350	0.0:0.0:0.6315:0.3685	.	325	Q3SY69	AL1L2_HUMAN	K	325	ENSP00000258494:Q325K;ENSP00000389608:Q325K	ENSP00000258494:Q325K	Q	-	1	0	ALDH1L2	103979609	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.132000	0.50523	2.788000	0.95919	0.650000	0.86243	CAG		0.408	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		T	105455479	G	T	105455479	3	4	53	1	0	0	0	0	1	0	0	0	495	1299	45	5	1862	5	ALDH1L2	12	105455479	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	48449794	105455479	28396416	46	3363											
TRPV4	59341	broad.mit.edu	37	chr12	110230485	110230485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatgctataggtccccGtcagcttcagcccacgggtg	7	10	11	13	2	3	1	3	1	0	0	4	1	4	1	3	2	3	2	3	2	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:110230485G>A	ENST00000418703.2	-	10	1890	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	TRPV4_ENST00000541794.1_Missense_Mutation_p.T552M|TRPV4_ENST00000261740.2_Missense_Mutation_p.T599M|TRPV4_ENST00000392719.2_Missense_Mutation_p.T552M|TRPV4_ENST00000536838.1_Missense_Mutation_p.T565M|TRPV4_ENST00000346520.2_Missense_Mutation_p.T539M|TRPV4_ENST00000544971.1_Missense_Mutation_p.T492M|TRPV4_ENST00000537083.1_Missense_Mutation_p.T539M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	599					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATAGGTCCCCGTCAGCTTCAG	0.582																																						uc001tpj.2																			0		p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1795-1797)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							96	78	84					12																	110230485		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230485G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1796C>T	12.37:g.110230485G>A	ENSP00000406191:p.Thr599Met					TRPV4_uc001tpg.2_Missense_Mutation_p.T565M|TRPV4_uc021rdp.1_Missense_Mutation_p.T539M|TRPV4_uc001tph.2_Missense_Mutation_p.T552M|TRPV4_uc001tpi.2_Missense_Mutation_p.T492M|TRPV4_uc001tpk.2_Missense_Mutation_p.T599M	p.T599M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			9	1891	-			599					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1796C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171789	0.57584	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	L	0.42632	1.34	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.922;0.922	D;D;D;P;P	0.97110	0.998;1.0;0.998;0.567;0.688	D	0.88188	0.2875	10	0.17832	T	0.49	-7.2362	19.6125	0.95613	0.0:0.0:1.0:0.0	.	539;599;492;552;565	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	599;599;552;539;492;539;552;565	ENSP00000406191:T599M;ENSP00000261740:T599M;ENSP00000376480:T552M;ENSP00000319003:T539M;ENSP00000443611:T492M;ENSP00000442738:T539M;ENSP00000442167:T552M;ENSP00000444336:T565M	ENSP00000261740:T599M	T	-	2	0	TRPV4	108714868	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.062000	0.89475	2.879000	0.98667	0.650000	0.86243	ACG		0.582	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110230485	G	A	110230485	3	1	53	1	0	0	0	0	1	0	0	0	16595	1145	40	1	843	1	TRPV4	12	110230485	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	4775006	110230485	23621410	47	3364											
DNAH10	196385	broad.mit.edu	37	chr12	124330629	124330629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctttggctacggctaCgagtacatgggcctgaacgg	9	8	14	10	3	0	1	0	1	0	0	0	3	0	2	2	5	5	3	2	5	5	4	rs372145244		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:124330629C>T	ENST00000409039.3	+	31	5413	c.5388C>T	c.(5386-5388)taC>taT	p.Y1796Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1796	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGGCTACGAGTACATGG	0.587																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5386-5388)taC>taT		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.		C		1,4011		0,1,2005	70	74	72		5388	-3.4	0.9	12		72	0,8326		0,0,4163	no	coding-synonymous	DNAH10	NM_207437.3		0,1,6168	TT,TC,CC		0.0,0.0249,0.0081		1796/4472	124330629	1,12337	2006	4163	6169	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330629C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5388C>T	12.37:g.124330629C>T							p.Y1796Y	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	30	5413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1796			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5388C>T	CCDS9255.2																																																																																				0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124330629	C	T	124330629	2	4	53	1	0	0	0	0	0	0	0	1	4598	547	19	1		1	DNAH10	12	124330629	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	14100144	124330629	9521266	48	3365											
NYNRIN	57523	broad.mit.edu	37	chr14	24878300	24878300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaagcccagctggtagaCcagatggggggctgggagga	11	4	18	8	0	0	3	0	0	0	3	0	5	0	5	2	6	2	3	2	6	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:24878300C>A	ENST00000382554.3	+	4	1618	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	434					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGGTAGACCAGATGGGGG	0.552																																						uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1300-1302)Cca>Aca		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							17	19	18					14																	24878300		1842	4092	5934	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878300C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1300C>A	14.37:g.24878300C>A	ENSP00000371994:p.Pro434Thr						p.P434T	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	1618	+			434					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1300C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003808	0.07773	.	.	ENSG00000205978	ENST00000382554	T	0.35421	1.31	5.0	4.12	0.48240	.	0.807242	0.10122	N	0.713283	T	0.28366	0.0701	L	0.27053	0.805	0.09310	N	1	B	0.33826	0.427	B	0.34722	0.188	T	0.22977	-1.0201	10	0.87932	D	0	.	9.0661	0.36465	0.0:0.902:0.0:0.098	.	434	Q9P2P1	NYNRI_HUMAN	T	434	ENSP00000371994:P434T	ENSP00000371994:P434T	P	+	1	0	NYNRIN	23948140	0.292000	0.24362	0.006000	0.13384	0.025000	0.11179	1.894000	0.39768	1.333000	0.45449	0.655000	0.94253	CCA		0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24878300	C	A	24878300	3	1	53	1	0	0	0	0	1	0	0	0	10796	507	18	5	1310	5	NYNRIN	14	24878300	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		24878300	82471240	49	3366											
PLEK2	26499	broad.mit.edu	37	chr14	67864439	67864439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccatccaggaggatccgGcccttgggaggggtcactct	7	7	14	13	1	2	0	1	0	1	0	4	3	4	3	4	6	1	0	4	6	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:67864439G>T	ENST00000216446.4	-	2	287	c.147C>A	c.(145-147)ggC>ggA	p.G49G	PLEK2_ENST00000557388.1_5'Flank	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	49	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGAGGATCCGGCCCTTGGGAG	0.592																																						uc001xjh.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(145-147)ggC>ggA		Homo sapiens pleckstrin 2 (PLEK2), mRNA.							53	45	48					14																	67864439		2203	4300	6503	SO:0001819	synonymous_variant	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67864439G>T	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.147C>A	14.37:g.67864439G>T							p.G49G	NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	1	199	-			49			PH 1.		Q96JT0	Silent	SNP	ENST00000216446.4	37	c.147C>A	CCDS9782.1																																																																																				0.592	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			T	67864439	G	T	67864439	2	4	53	1	0	0	0	0	0	0	0	1	12054	1190	42	5		5	PLEK2	14	67864439	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	42986139	67864439	39485101	50	3367											
SGK269	79834	broad.mit.edu	37	chr15	77473255	77473255	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgatgtggagtcagaTgacaccatgctctgaatgct	9	12	12	8	0	3	4	1	3	2	1	3	5	3	5	1	2	2	2	1	2	1	0			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:77473255T>C	ENST00000560626.2	-	4	1489	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S	PEAK1_ENST00000312493.4_Silent_p.S338S|PEAK1_ENST00000558305.1_Silent_p.S338S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	338	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGAGTCAGATGACACCATGC	0.423																																						uc021sqy.1																			0											c.(1012-1014)tcA>tcG		Homo sapiens NKF3 kinase family member (PEAK1), mRNA.							73	65	68					15																	77473255		1927	4130	6057	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473255T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1014A>G	15.37:g.77473255T>C						PEAK1_uc002bcn.2_Silent_p.S338S|PEAK1_uc021sqz.1_5'Flank	p.S338S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN			4	1590	-			338			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.1014A>G	CCDS42062.1																																																																																				0.423	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			C	77473255	T	C	77473255	2	2	53	1	0	0	0	0	0	0	0	1	14211	1451	51	4		4	SGK269	15	77473255	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08		77473255	25058137	51	3368											
CHRNB4	1143	broad.mit.edu	37	chr15	78921872	78921872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcatcttctcgccgcagtCggatggcaggtagaagacga	9	9	13	10	4	3	2	1	0	2	2	5	4	3	3	1	3	0	3	1	3	2	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:78921872C>T	ENST00000261751.3	-	5	886	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	259					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TCGCCGCAGTCGGATGGCAGG	0.557																																						uc002bed.1																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(775-777)Gac>Aac		Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.							260	203	223					15																	78921872		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921872C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.775G>A	15.37:g.78921872C>T	ENSP00000261751:p.Asp259Asn					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	p.D259N	NM_000750	NP_000741	P30926	ACHB4_HUMAN			4	887	-			259					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.775G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874333	0.72180	.	.	ENSG00000117971	ENST00000261751	T	0.74209	-0.82	5.57	3.71	0.42584	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.101004	0.64402	N	0.000003	D	0.83013	0.5162	M	0.89095	3.005	0.80722	D	1	P	0.42584	0.784	P	0.49853	0.624	D	0.84623	0.0685	10	0.72032	D	0.01	.	12.2712	0.54708	0.0:0.8622:0.0:0.1378	.	259	P30926	ACHB4_HUMAN	N	259	ENSP00000261751:D259N	ENSP00000261751:D259N	D	-	1	0	CHRNB4	76708927	0.999000	0.42202	0.998000	0.56505	0.759000	0.43091	4.071000	0.57556	0.745000	0.32763	-0.119000	0.15052	GAC		0.557	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			T	78921872	C	T	78921872	3	4	53	1	0	0	0	0	1	0	0	0	3393	884	31	2	729	2	CHRNB4	15	78921872	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	1448617	78921872	23609520	52	3369											
RASGRF1	5923	broad.mit.edu	37	chr15	79292172	79292172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatggcaaaggcagaggCggccgacaaggcactgcggt	10	5	16	10	3	0	1	0	0	0	1	0	2	0	1	1	6	2	4	1	6	3	1	rs199661393		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:79292172C>T	ENST00000419573.3	-	18	2981	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	RASGRF1_ENST00000394745.3_Missense_Mutation_p.A119T|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A887T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	903					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A903T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCAGAGGCGGCCGACAAG	0.562																																						uc002beq.3																			1	Substitution - Missense(1)	p.A903T(2)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2707-2709)Gcc>Acc		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	0,4392		0,0,2196	140	114	123		2659,2707,355	2.4	0.3	15		123	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	58,58,58	0,2,6487	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	887/1258,903/1274,119/490	79292172	2,12976	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292172C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2707G>A	15.37:g.79292172C>T	ENSP00000405963:p.Ala903Thr					RASGRF1_uc002bep.3_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.4_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.3_Missense_Mutation_p.A119T	p.A903T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			17	3082	-			905					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2707G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535203	0.45176	0.0	2.33E-4	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.64260	-0.09;-0.09	4.34	2.42	0.29668	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.35414	1.06	0.49798	D	0.999822	B;B;B;B	0.31655	0.023;0.225;0.095;0.334	B;B;B;B	0.21708	0.01;0.026;0.016;0.036	T	0.15838	-1.0423	10	0.26408	T	0.33	.	7.9873	0.30220	0.0:0.8104:0.0:0.1896	.	299;887;905;887	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	T	903;887;119	ENSP00000405963:A903T;ENSP00000378228:A119T	ENSP00000378224:A887T	A	-	1	0	RASGRF1	77079227	0.841000	0.29509	0.344000	0.25628	0.822000	0.46500	1.597000	0.36729	0.442000	0.26555	0.591000	0.81541	GCC		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		T	79292172	C	T	79292172	3	4	53	1	0	0	0	0	1	0	0	0	13072	768	27	1	1158	1	RASGRF1	15	79292172	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	370300	79292172	23239220	53	3370											
NTRK3	4916	broad.mit.edu	37	chr15	88576210	88576210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgacgagggcgtggtgAtgccgtggttgatgtggtgc	5	10	19	7	3	0	3	0	3	0	0	0	4	0	3	2	4	2	1	2	4	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:88576210A>G	ENST00000360948.2	-	13	1624	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	NTRK3_ENST00000357724.2_Missense_Mutation_p.I480T|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480T|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390T|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488T|NTRK3_ENST00000355254.2_Missense_Mutation_p.I488T|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.2_Missense_Mutation_p.I488T|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480T|NTRK3_ENST00000540489.2_Missense_Mutation_p.I488T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	488					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I488T(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCGTGGTGATGCCGTGGTT	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												uc002bme.2				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	1	Substitution - Missense(1)	p.I488T(2)|p.I488I(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1462-1464)aTc>aCc		Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.							101	63	76					15																	88576210		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576210A>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1463T>C	15.37:g.88576210A>G	ENSP00000354207:p.Ile488Thr	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.2_Missense_Mutation_p.I488T|NTRK3_uc021sua.1_Missense_Mutation_p.I480T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.3_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_Non-coding_Transcript	p.I488T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1769	-			488					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1463T>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	3.733	-0.055113	0.07362	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73152	-0.72;-0.68;-0.68;-0.72;-0.6;0.15;0.15	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	N	0.11427	0.14	0.58432	D	0.999999	B;B;B;B;B;B	0.17852	0.002;0.006;0.0;0.024;0.005;0.0	B;B;B;B;B;B	0.14578	0.002;0.005;0.002;0.007;0.011;0.002	T	0.46938	-0.9155	10	0.02654	T	1	.	13.9137	0.63883	1.0:0.0:0.0:0.0	.	390;480;480;488;488;488	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	488;488;480;488;390;488;488	ENSP00000377990:I488T;ENSP00000354207:I488T;ENSP00000350356:I480T;ENSP00000347397:I488T;ENSP00000437773:I390T;ENSP00000444673:I488T;ENSP00000318328:I488T	ENSP00000318328:I488T	I	-	2	0	NTRK3	86377214	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.793000	0.69060	2.061000	0.61500	0.528000	0.53228	ATC		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				G	88576210	A	G	88576210	3	3	53	1	0	0	0	0	1	0	0	0	10708	333	12	4	1346	4	NTRK3	15	88576210	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	9284038	88576210	13955182	54	3371											
SEPT12	124404	broad.mit.edu	37	chr16	4834042	4834042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtactgctcgtattgctcGttgatgtagcccaggatggg	7	12	14	8	2	0	1	0	1	0	0	2	2	0	2	1	3	4	6	1	3	3	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:4834042G>A	ENST00000268231.8	-	5	665	c.402C>T	c.(400-402)aaC>aaT	p.N134N	SEPT12_ENST00000396693.5_Intron|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	134	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTATTGCTCGTTGATGTAGC	0.627																																						uc002cxq.3																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(400-402)aaC>aaT		Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.							181	158	166					16																	4834042		2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4834042G>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.402C>T	16.37:g.4834042G>A						SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	p.N134N	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			4	666	-			134					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.402C>T	CCDS10522.1																																																																																				0.627	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		A	4834042	G	A	4834042	2	1	53	1	0	0	0	0	0	0	0	1	14062	1136	40	1		1	SEPT12	16	4834042	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		4834042	85520711	55	3372											
IQCK	124152	broad.mit.edu	37	chr16	19729642	19729642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccatggcggcaccgcGgcaaatccccagccacatag	9	3	12	17	5	0	0	0	0	0	0	1	0	1	0	5	4	1	2	5	4	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:19729642G>C	ENST00000320394.6	+	2	713	c.14G>C	c.(13-15)cGg>cCg	p.R5P	KNOP1_ENST00000219837.7_5'Flank|IQCK_ENST00000541926.1_Missense_Mutation_p.R5P|AC002550.5_ENST00000565916.1_RNA|IQCK_ENST00000564186.1_Missense_Mutation_p.R5P|IQCK_ENST00000433597.2_5'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	5										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GCGGCACCGCGGCAAATCCCC	0.692																																						uc002dgr.3																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(13-15)cGg>cCg		Homo sapiens IQ motif containing K (IQCK), mRNA.							37	29	32					16																	19729642		2192	4292	6484	SO:0001583	missense	124152							g.chr16:19729642G>C	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.14G>C	16.37:g.19729642G>C	ENSP00000324901:p.Arg5Pro					IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.R5P|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	p.R5P	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN			1	713	+			5					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.14G>C	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750527	0.69533	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926	T	0.56103	0.48	4.13	-7.67	0.01272	.	4.565730	0.00541	N	0.000225	T	0.38241	0.1033	L	0.43152	1.355	0.20196	N	0.999924	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.11470	-1.0586	9	.	.	.	3.4571	5.2648	0.15593	0.165:0.5359:0.1943:0.1048	.	5;5	B4DXE1;Q8N0W5	.;IQCK_HUMAN	P	5	ENSP00000324901:R5P	.	R	+	2	0	IQCK	19637143	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.770000	0.04705	-1.345000	0.02214	-0.311000	0.09066	CGG		0.692	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		C	19729642	G	C	19729642	3	2	53	1	0	0	0	0	1	0	0	0	7813	1116	39	5	16	5	IQCK	16	19729642	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	14895600	19729642	70625111	56	3373											
ODF4	146852	broad.mit.edu	37	chr17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacaggtccttgggccagCgccagaactctccgctgccc	7	7	11	16	2	1	1	0	0	1	1	3	1	2	1	5	2	4	2	5	2	2	2	rs147153349		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:8243550C>T	ENST00000328248.2	+	1	369	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592																																						uc002gle.1																			1	Substitution - Missense(1)	p.R61S(2)	lung(1)	endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(181-183)Cgc>Tgc		Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	76	79		181	1.3	0	17	dbSNP_134	79	0,8600		0,0,4300	no	missense	ODF4	NM_153007.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	61/258	8243550	1,13005	2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243550C>T	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.181C>T	17.37:g.8243550C>T	ENSP00000331086:p.Arg61Cys						p.R61C	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			0	363	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.181C>T	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873941	0.51695	2.27E-4	0.0	ENSG00000184650	ENST00000328248	T	0.29397	1.57	4.34	1.26	0.21427	.	0.790513	0.11133	N	0.596122	T	0.19327	0.0464	L	0.48642	1.525	0.09310	N	1	P	0.41546	0.754	B	0.25759	0.063	T	0.16778	-1.0391	10	0.87932	D	0	-3.2119	6.0197	0.19623	0.0:0.6743:0.0:0.3257	.	61	Q2M2E3	ODFP4_HUMAN	C	61	ENSP00000331086:R61C	ENSP00000331086:R61C	R	+	1	0	ODF4	8184275	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.276000	0.18716	0.581000	0.29539	0.655000	0.94253	CGC		0.592	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			T	8243550	C	T	8243550	3	4	53	1	0	0	0	0	1	0	0	0	10833	768	27	1	183	1	ODF4	17	8243550	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		8243550	72951660	57	3374											
RHBDL3	162494	broad.mit.edu	37	chr17	30632431	30632431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggggtgtatgctctcGtctctgcccatctggccaac	5	11	12	13	1	3	0	0	0	3	0	5	1	3	1	2	4	3	2	2	4	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:30632431G>A	ENST00000269051.4	+	7	867	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	RHBDL3_ENST00000538145.1_Missense_Mutation_p.V277I|RHBDL3_ENST00000536287.1_Missense_Mutation_p.V187I	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	285						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTATGCTCTCGTCTCTGCCCA	0.542																																						uc010csx.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16								Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.							198	158	171					17																	30632431		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30632431G>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.853G>A	17.37:g.30632431G>A	ENSP00000269051:p.Val285Ile					RHBDL3_uc002hhe.1_Missense_Mutation_p.V285I|RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I				P58872	RHBL3_HUMAN					+		Breast(31;0.116)|Ovarian(249;0.182)						A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37		CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838184	0.71373	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	6.02	5.05	0.67936	Peptidase S54, rhomboid domain (1);	0.057253	0.64402	N	0.000001	T	0.14227	0.0344	N	0.10645	0.015	0.58432	D	0.999995	D;D	0.64830	0.994;0.994	P;P	0.60789	0.84;0.879	T	0.27365	-1.0076	10	0.12766	T	0.61	.	13.5504	0.61728	0.0726:0.0:0.9274:0.0	.	277;285	Q495Y5;P58872	.;RHBL3_HUMAN	I	285;277;187	ENSP00000269051:V285I;ENSP00000442092:V277I;ENSP00000466508:V187I	ENSP00000269051:V285I	V	+	1	0	RHBDL3	27656544	1.000000	0.71417	0.904000	0.35570	0.954000	0.61252	4.657000	0.61490	1.554000	0.49487	0.650000	0.86243	GTC		0.542	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		A	30632431	G	A	30632431	3	1	53	1	0	0	0	0	1	0	0	0	13323	1145	40	1	879	1	RHBDL3	17	30632431	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	22388881	30632431	50562779	58	3375											
POLRMT	5442	broad.mit.edu	37	chr19	622950	622950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccggcacagtgctttCtcccattggtcccgcagggt	5	9	12	15	3	1	0	0	0	1	0	3	0	2	0	3	3	2	3	3	3	0	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:622950C>A	ENST00000588649.2	-	7	1410	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	442					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGCTTTCTCCCATTGGT	0.672																																						uc002lpf.1																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1324-1326)gaG>gaT		Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.							25	27	27					19																	622950		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:622950C>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1326G>T	19.37:g.622950C>A	ENSP00000465759:p.Glu442Asp						p.E442D	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1382	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	442					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1326G>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.248045	0.39697	.	.	ENSG00000099821	ENST00000215591	T	0.41758	0.99	4.01	1.76	0.24704	.	0.435181	0.24801	N	0.035481	T	0.36248	0.0960	M	0.62723	1.935	0.09310	N	0.999997	P	0.37330	0.59	B	0.40982	0.345	T	0.16335	-1.0406	10	0.34782	T	0.22	-21.124	3.2867	0.06934	0.1367:0.5585:0.1336:0.1712	.	442	O00411	RPOM_HUMAN	D	442	ENSP00000215591:E442D	ENSP00000215591:E442D	E	-	3	2	POLRMT	573950	0.000000	0.05858	0.093000	0.20910	0.010000	0.07245	-0.255000	0.08769	0.400000	0.25396	0.556000	0.70494	GAG		0.672	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	622950	C	A	622950	3	1	53	1	0	0	0	0	1	0	0	0	12238	912	32	5	2426	5	POLRMT	19	622950	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		622950	58506033	59	3376											
PODNL1	79883	broad.mit.edu	37	chr19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttggcagccagatccGcgacacggagggaccggggc	7	5	17	12	4	0	1	0	0	0	1	1	4	1	3	3	6	1	2	3	6	0	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14046600G>A	ENST00000339560.5	-	5	722	c.449C>T	c.(448-450)gCg>gTg	p.A150V	PODNL1_ENST00000538371.2_Missense_Mutation_p.A148V|PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000254320.3_Missense_Mutation_p.A68V	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	150	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667																																						uc002mxr.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(448-450)gCg>gTg		Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.							26	29	28					19																	14046600		2203	4300	6503	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14046600G>A	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.449C>T	19.37:g.14046600G>A	ENSP00000345175:p.Ala150Val					PODNL1_uc010xni.2_Missense_Mutation_p.A68V|PODNL1_uc010xnj.2_Missense_Mutation_p.A148V|PODNL1_uc002mxs.3_Intron	p.A150V	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		4	723	-			150			Leu-rich.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.449C>T	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	0.147	-1.096072	0.01843	.	.	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.24538	1.95;5.64;1.85	4.97	2.83	0.33086	.	0.272209	0.25836	N	0.027983	T	0.12305	0.0299	N	0.16567	0.415	0.09310	N	1	P;B;P	0.44734	0.842;0.427;0.735	B;B;B	0.35931	0.214;0.065;0.184	T	0.11817	-1.0572	10	0.49607	T	0.09	.	7.0865	0.25259	0.283:0.0:0.717:0.0	.	148;68;150	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	V	148;150;68	ENSP00000442553:A148V;ENSP00000345175:A150V;ENSP00000254320:A68V	ENSP00000254320:A68V	A	-	2	0	PODNL1	13907600	0.024000	0.19004	0.003000	0.11579	0.239000	0.25481	0.535000	0.23114	0.513000	0.28278	-0.354000	0.07668	GCG		0.667	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		A	14046600	G	A	14046600	3	1	53	1	0	0	0	0	1	0	0	0	12179	1087	38	1	1105	1	PODNL1	19	14046600	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	13423650	14046600	45082383	60	3377											
EMR2	30817	broad.mit.edu	37	chr19	14857101	14857101	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagagtctgtttttcaaaAtccagagagtcaccagaaag	15	9	10	7	0	3	3	2	0	1	3	4	5	4	3	2	1	0	1	2	1	3	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14857101A>C	ENST00000315576.3	-	18	2577	c.2126T>G	c.(2125-2127)aTt>aGt	p.I709S	EMR2_ENST00000392967.2_Missense_Mutation_p.I698S|EMR2_ENST00000346057.1_Missense_Mutation_p.I660S|EMR2_ENST00000594294.1_Missense_Mutation_p.I660S|EMR2_ENST00000392965.3_Missense_Mutation_p.I651S|EMR2_ENST00000594076.1_Missense_Mutation_p.I616S|EMR2_ENST00000596991.2_Missense_Mutation_p.I698S|EMR2_ENST00000595839.1_Missense_Mutation_p.I567S|EMR2_ENST00000353005.1_Missense_Mutation_p.I567S|EMR2_ENST00000601345.1_Missense_Mutation_p.I698S|EMR2_ENST00000353876.1_Missense_Mutation_p.I616S|EMR2_ENST00000392964.3_3'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	709					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTTTTCAAAATCCAGAGAGT	0.388																																						uc002mzp.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(2125-2127)aTt>aGt		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.							158	162	161					19																	14857101		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14857101A>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2126T>G	19.37:g.14857101A>C	ENSP00000319883:p.Ile709Ser					EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_Non-coding_Transcript	p.I709S	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			17	2582	-			709					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.2126T>G	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	9.917	1.211118	0.22289	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.74	3.72	0.42706	GPCR, family 2-like (1);	.	.	.	.	T	0.64427	0.2597	M	0.75777	2.31	0.45129	D	0.998143	D;D;D;D;P;P;D;P	0.76494	0.998;0.991;0.999;0.984;0.593;0.887;0.999;0.593	D;D;D;P;P;P;D;P	0.83275	0.978;0.962;0.996;0.879;0.591;0.854;0.992;0.511	T	0.63967	-0.6517	9	0.62326	D	0.03	.	8.2569	0.31763	0.9032:0.0:0.0968:0.0	.	651;616;709;567;660;709;709;698	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	S	709;698;660;616;567;651	ENSP00000319883:I709S;ENSP00000376694:I698S;ENSP00000263380:I660S;ENSP00000319454:I616S;ENSP00000319838:I567S;ENSP00000376692:I651S	ENSP00000319883:I709S	I	-	2	0	EMR2	14718101	0.725000	0.28048	0.053000	0.19242	0.003000	0.03518	1.541000	0.36126	0.678000	0.31325	0.496000	0.49642	ATT		0.388	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			C	14857101	A	C	14857101	3	2	53	1	0	0	0	0	1	0	0	0	5105	101	4	5	361	5	EMR2	19	14857101	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	810501	14857101	44271882	61	3378											
CPAMD8	27151	broad.mit.edu	37	chr19	17086872	17086872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcttatcaactgcggcGacgcacacacagctgcccct	10	7	7	17	3	2	0	1	0	1	0	2	1	2	0	2	1	4	2	2	1	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:17086872G>A	ENST00000443236.1	-	16	2020	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	616						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTGCGGCGACGCACACAC	0.597																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1987-1989)gtC>gtT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							42	48	46					19																	17086872		2128	4248	6376	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17086872G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1989C>T	19.37:g.17086872G>A							p.V663V	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	2021	-			616					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.1989C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451829	0.01080	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.85	-5.7	0.02421	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.26739	N	0.970424	.	.	.	.	.	.	T	0.28996	-1.0026	4	.	.	.	.	3.1937	0.06625	0.3794:0.3916:0.1222:0.1068	.	.	.	.	L	674	.	.	S	-	2	0	CPAMD8	16947872	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.212000	0.01225	-0.899000	0.03901	-0.314000	0.08810	TCG		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17086872	G	A	17086872	2	1	53	1	0	0	0	0	0	0	0	1	3795	1045	37	2		2	CPAMD8	19	17086872	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	2229771	17086872	42042111	62	3379											
ZFP30	22835	broad.mit.edu	37	chr19	38126468	38126468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacactccttacattcatagGgtttttctccagtatgaagt	10	15	6	10	0	2	1	1	1	1	0	4	1	3	1	2	1	1	2	2	1	4	6			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:38126468G>A	ENST00000351218.2	-	6	1531	c.974C>T	c.(973-975)cCc>cTc	p.P325L	ZFP30_ENST00000392144.1_Missense_Mutation_p.P325L|ZFP30_ENST00000514101.2_Missense_Mutation_p.P325L|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAGGGTTTTTCTCC	0.438																																						uc002ogv.1																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(973-975)cCc>cTc		Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.							85	82	83					19																	38126468		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126468G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.974C>T	19.37:g.38126468G>A	ENSP00000343581:p.Pro325Leu					ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	p.P325L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1490	-			325					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.974C>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960071	0.74016	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.17054	2.3;2.3;2.3	3.99	3.99	0.46301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003781	T	0.32882	0.0844	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.08932	-1.0698	10	0.66056	D	0.02	.	15.355	0.74421	0.0:0.0:1.0:0.0	.	325;325	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	L	325;325;325;240	ENSP00000343581:P325L;ENSP00000422930:P325L;ENSP00000375988:P325L	ENSP00000343581:P325L	P	-	2	0	ZFP30	42818308	1.000000	0.71417	0.930000	0.37139	0.910000	0.53928	3.508000	0.53378	2.223000	0.72356	0.655000	0.94253	CCC		0.438	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		A	38126468	G	A	38126468	3	1	53	1	0	0	0	0	1	0	0	0	17641	1232	43	3	589	3	ZFP30	19	38126468	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	21039596	38126468	21002515	63	3380											
MAP4K1	11184	broad.mit.edu	37	chr19	39086283	39086283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccctgcacagacccaCggcctccaccgcttcggtca	6	6	8	21	4	1	1	1	0	0	1	4	1	3	1	6	2	1	2	6	2	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:39086283C>T	ENST00000591517.1	-	28	2294	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	MAP4K1_ENST00000396857.2_Missense_Mutation_p.V756M|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.V752M	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	756	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACAGACCCACGGCCTCCACC	0.622																																						uc002oix.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(2266-2268)Gtg>Atg		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.							53	58	56					19																	39086283		1981	4157	6138	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39086283C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2266G>A	19.37:g.39086283C>T	ENSP00000465039:p.Val756Met					MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	p.V756M	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	2374	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		756			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.2266G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837295	0.50951	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.06218	3.33	5.01	3.97	0.46021	Citron-like (3);	0.081761	0.51477	D	0.000088	T	0.20007	0.0481	M	0.65975	2.015	0.42341	D	0.992338	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00444	-1.1735	10	0.87932	D	0	.	9.1368	0.36879	0.0:0.9015:0.0:0.0985	.	756;756	Q92918-2;Q92918	.;M4K1_HUMAN	M	756	ENSP00000380066:V756M	ENSP00000221409:V756M	V	-	1	0	MAP4K1	43778123	0.637000	0.27216	0.974000	0.42286	0.519000	0.34347	1.126000	0.31344	1.343000	0.45638	0.644000	0.83932	GTG		0.622	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		T	39086283	C	T	39086283	3	4	53	1	0	0	0	0	1	0	0	0	9259	536	19	1	317	1	MAP4K1	19	39086283	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	959815	39086283	20042700	64	3381											
LILRA1	11024	broad.mit.edu	37	chr19	55107682	55107682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcagacccttcatctcGgtgcatccgggccccacggt	5	8	12	16	4	2	1	1	0	1	1	4	1	3	1	4	4	1	2	4	4	0	1	rs138767008		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:55107682G>A	ENST00000251372.3	+	7	1169	c.987G>A	c.(985-987)tcG>tcA	p.S329S	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	329	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTTCATCTCGGTGCATCCGG	0.612																																						uc002qgh.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(985-987)tcG>tcA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.							58	57	58					19																	55107682		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107682G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.987G>A	19.37:g.55107682G>A						LILRA1_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.2_Silent_p.S329S	p.S329S	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1169	+			329			Ig-like C2-type 4.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.987G>A	CCDS12901.1																																																																																				0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55107682	G	A	55107682	2	1	53	1	0	0	0	0	0	0	0	1	8784	1103	39	2		2	LILRA1	19	55107682	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	16021399	55107682	4021301	65	3382											
NLRP8	126205	broad.mit.edu	37	chr19	56466478	56466478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaaatgtccctctctcGtaacccttccggggtttaat	7	14	8	12	2	1	1	0	1	1	0	5	1	3	1	3	2	2	3	3	2	3	4	rs201462125		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:56466478G>A	ENST00000291971.3	+	3	1125	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V352I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	352	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCCTCTCTCGTAACCCTTCC	0.458													g|||	1	0.000199681	8e-04	0	5008	,	,		22369	0		0	False		,,,				2504	0					uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1054-1056)Gta>Ata		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		A	ILE/VAL	0,4406		0,0,2203	82	82	82		1054	-2.1	0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	352/1049	56466478	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466478G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1054G>A	19.37:g.56466478G>A	ENSP00000291971:p.Val352Ile					NLRP8_uc010etg.3_Missense_Mutation_p.V352I	p.V352I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1125	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	352			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1054G>A	CCDS12937.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	5.472	0.272103	0.10349	0.0	1.16E-4	ENSG00000179709	ENST00000291971	T	0.79454	-1.27	2.04	-2.06	0.07298	.	.	.	.	.	T	0.43500	0.1250	N	0.02876	-0.465	0.09310	N	1	B;B	0.34313	0.448;0.293	B;B	0.28011	0.062;0.085	T	0.37865	-0.9687	9	0.19590	T	0.45	.	2.7586	0.05300	0.4221:0.2515:0.3263:0.0	.	352;352	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	352	ENSP00000291971:V352I	ENSP00000291971:V352I	V	+	1	0	NLRP8	61158290	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.446000	0.07149	-0.279000	0.10071	GTA		0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56466478	G	A	56466478	3	1	53	1	0	0	0	0	1	0	0	0	10483	1145	40	1	1064	1	NLRP8	19	56466478	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	1358796	56466478	2662505	66	3383											
CASS4	57091	broad.mit.edu	37	chr20	55027872	55027872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattggcctctggaagttcTtgtgactgacagtgtccaga	9	12	11	9	0	2	3	0	2	2	1	3	4	3	4	2	2	0	1	2	2	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr20:55027872T>C	ENST00000360314.3	+	6	1865	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.L547P	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	547					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493																																						uc002xxp.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1639-1641)cTt>cCt		Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.							93	86	88					20																	55027872		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027872T>C	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1640T>C	20.37:g.55027872T>C	ENSP00000353462:p.Leu547Pro					CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron	p.L547P	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN			5	1865	+			547					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1640T>C	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160861	0.78226	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.50001	0.76;0.76	5.87	5.87	0.94306	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77611	-0.2523	10	0.87932	D	0	-23.2814	16.5764	0.84681	0.0:0.0:0.0:1.0	.	493;547;547	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	P	547	ENSP00000353462:L547P;ENSP00000360387:L547P	ENSP00000353462:L547P	L	+	2	0	CASS4	54461279	1.000000	0.71417	0.157000	0.22605	0.892000	0.51952	7.208000	0.77907	2.371000	0.80710	0.533000	0.62120	CTT		0.493	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		C	55027872	T	C	55027872	3	2	53	1	0	0	0	0	1	0	0	0	2683	1609	56	4	1658	4	CASS4	20	55027872	Missense_Mutation	SNP	T	TCGA-06-0645-01A-01D-1492-08		55027872	7997648	67	3384											
TMPRSS15	5651	broad.mit.edu	37	chr21	19744570	19744570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttctccatcacaaaataAatcagcttttatacacgtta	15	14	2	10	1	3	0	2	0	1	0	4	0	3	0	1	0	3	2	1	0	8	7			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:19744570A>T	ENST00000284885.3	-	6	637	c.604T>A	c.(604-606)Tta>Ata	p.L202I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	202	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACAAAATAAATCAGCTTTT	0.383																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(604-606)Tta>Ata		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							122	107	112					21																	19744570		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19744570A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.604T>A	21.37:g.19744570A>T	ENSP00000284885:p.Leu202Ile						p.L202I	NM_002772	NP_002763	P98073	ENTK_HUMAN			5	635	-			202			LDL-receptor class A 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.604T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310386	0.60414	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	D;D	0.95885	-3.84;-3.84	4.09	2.94	0.34122	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.480207	0.19209	N	0.119992	D	0.94361	0.8187	M	0.87971	2.92	0.26277	N	0.978338	P	0.46621	0.881	B	0.40940	0.344	D	0.89722	0.3920	9	.	.	.	.	6.1201	0.20148	0.8857:0.0:0.1143:0.0	.	202	P98073	ENTK_HUMAN	I	202;172	ENSP00000284885:L202I;ENSP00000398253:L172I	.	L	-	1	2	TMPRSS15	18666441	0.546000	0.26457	0.993000	0.49108	0.824000	0.46624	1.313000	0.33585	0.916000	0.36871	0.455000	0.32223	TTA		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19744570	A	T	19744570	3	4	53	1	0	0	0	0	1	0	0	0	16243	11	1	5	2535	5	TMPRSS15	21	19744570	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08		19744570	28385325	68	3385											
ICOSLG	23308	broad.mit.edu	37	chr21	45655287	45655287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcatgttcaagaagaCggtgtcattctgcagagcct	9	9	11	12	2	3	3	2	0	1	3	3	3	3	3	3	1	2	3	3	1	2	2	rs537324360		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:45655287C>T	ENST00000407780.3	-	4	692	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	ICOSLG_ENST00000344330.4_Missense_Mutation_p.V189I|ICOSLG_ENST00000400377.3_Missense_Mutation_p.V72I|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V189I	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	189	Ig-like C2-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTCAAGAAGACGGTGTCATTC	0.552													C|||	1	0.000199681	0	0	5008	,	,		20998	0		0	False		,,,				2504	0.001					uc010gpp.1																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(565-567)Gtc>Atc		Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.							67	74	72					21																	45655287		2195	4298	6493	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45655287C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.565G>A	21.37:g.45655287C>T	ENSP00000384432:p.Val189Ile					ICOSLG_uc002zef.3_Missense_Mutation_p.V72I|ICOSLG_uc002zee.3_Missense_Mutation_p.V189I|ICOSLG_uc011afc.2_Missense_Mutation_p.V99I	p.V189I	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	699	-			189			Ig-like C2-type.		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.565G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	2.101	-0.406092	0.04832	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.59	-2.08	0.07254	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.408644	0.20777	N	0.085867	T	0.49423	0.1556	L	0.31664	0.95	0.09310	N	1	B;B;B	0.33841	0.428;0.279;0.428	B;B;B	0.30179	0.112;0.04;0.112	T	0.35500	-0.9786	10	0.20519	T	0.43	.	3.0626	0.06204	0.3098:0.3372:0.0:0.353	.	189;72;189	A0N0L8;A8MUZ1;O75144	.;.;ICOSL_HUMAN	I	189;189;189;72	ENSP00000339477:V189I;ENSP00000384432:V189I;ENSP00000383230:V189I;ENSP00000383228:V72I	ENSP00000339477:V189I	V	-	1	0	ICOSLG	44479715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.097000	0.11042	-0.072000	0.12864	-1.564000	0.00881	GTC		0.552	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		T	45655287	C	T	45655287	3	4	53	1	0	0	0	0	1	0	0	0	7487	536	19	1	359	1	ICOSLG	21	45655287	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	25910717	45655287	2474608	69	3386											
MAGEB6	158809	broad.mit.edu	37	chrX	26212572	26212572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcgtgcacgttggcGcaattcctgcagaagaagtt	12	8	13	8	3	0	3	0	0	0	3	1	3	1	3	1	2	2	5	1	2	5	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478																																						uc022buc.1																			1	Substitution - coding silent(1)	p.A203A(2)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)gcG>gcA		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							85	72	76					X																	26212572		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212572G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.609G>A	X.37:g.26212572G>A						MAGEB6_uc004dbr.3_Silent_p.A203A	p.A203A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	609	+			203			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.609G>A	CCDS14217.1																																																																																				0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212572	G	A	26212572	2	1	53	1	0	0	0	0	0	0	0	1	9179	1074	38	1		1	MAGEB6	23	26212572	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		26212572	129057988	70	3387											
FAM70A	55026	broad.mit.edu	37	chrX	119410833	119410833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaccagagcaggtggtaGaggtggatgatatcttggca	11	8	16	6	0	1	4	0	1	1	3	1	5	1	5	1	5	1	4	1	5	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:119410833G>A	ENST00000309720.5	-	8	777	c.654C>T	c.(652-654)ctC>ctT	p.L218L	TMEM255A_ENST00000371352.1_Silent_p.L54L|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Silent_p.L194L	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	218						integral component of membrane (GO:0016021)											GCAGGTGGTAGAGGTGGATGA	0.542																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(652-654)ctC>ctT		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							270	194	219					X																	119410833		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119410833G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.654C>T	X.37:g.119410833G>A						FAM70A_uc004esp.4_Silent_p.L194L|FAM70A_uc010nqo.3_Intron	p.L218L	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	881	-			218					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.654C>T	CCDS14597.1																																																																																				0.542	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		A	119410833	G	A	119410833	2	1	53	1	0	0	0	0	0	0	0	1	5605	929	33	3		3	FAM70A	23	119410833	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	93198261	119410833	35859727	71	3388											
SAGE1	55511	broad.mit.edu	37	chrX	134986679	134986679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagagaggataaataaCggccaaccagtagctgataa	17	7	11	6	1	0	3	0	2	0	1	0	5	0	4	2	2	3	2	2	2	7	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:134986679C>T	ENST00000370709.3	+	3	264	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SAGE1_ENST00000537770.1_Silent_p.N88N|SAGE1_ENST00000324447.3_Silent_p.N88N|SAGE1_ENST00000535938.1_Silent_p.N88N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	88						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGATAAATAACGGCCAACCAG	0.443																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(262-264)aaC>aaT		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							182	145	158					X																	134986679		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134986679C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.264C>T	X.37:g.134986679C>T						SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Silent_p.N88N	p.N88N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			3	431	+	Acute lymphoblastic leukemia(192;0.000127)		88					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.264C>T	CCDS14652.1																																																																																				0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		T	134986679	C	T	134986679	2	4	53	1	0	0	0	0	0	0	0	1	13809	535	19	1		1	SAGE1	23	134986679	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	15575846	134986679	20283881	72	3389											
GPR112	139378	broad.mit.edu	37	chrX	135430793	135430793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccaggatcacacctaCgacctttctctctccaacag	10	10	4	17	1	3	0	1	0	2	0	6	2	4	1	5	1	2	0	5	1	2	3	rs146283448		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:135430793C>T	ENST00000394143.1	+	6	5219	c.4928C>T	c.(4927-4929)aCg>aTg	p.T1643M	GPR112_ENST00000370652.1_Missense_Mutation_p.T1643M|GPR112_ENST00000287534.4_Missense_Mutation_p.T1580M|GPR112_ENST00000394141.1_Missense_Mutation_p.T1438M|GPR112_ENST00000412101.1_Missense_Mutation_p.T1438M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1643					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACACCTACGACCTTTCTC	0.468													c|||	1	0.000264901	0	0	3775	,	,		14604	0		0	False		,,,				2504	0.001					uc004ezu.1																			0		p.P1642H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4927-4929)aCg>aTg		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.			MET/THR	0,3835		0,0,0,1632,571	140	133	135		4928	0.3	0	X	dbSNP_134	135	4,6724		0,3,1,2425,1871	yes	missense	GPR112	NM_153834.3	81	0,3,1,4057,2442	TT,TC,T,CC,C		0.0595,0.0,0.0379	probably-damaging	1643/3081	135430793	4,10559	2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430793C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4928C>T	X.37:g.135430793C>T	ENSP00000377699:p.Thr1643Met					GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	p.T1643M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	5219	+	Acute lymphoblastic leukemia(192;0.000127)		1643					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4928C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.45	1.942198	0.34283	0.0	5.95E-4	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34275	1.4;1.4;1.37;1.5;1.37	3.39	0.326	0.15908	.	.	.	.	.	T	0.38108	0.1028	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.996	D;P;P	0.64595	0.927;0.832;0.586	T	0.17684	-1.0361	9	0.66056	D	0.02	.	3.2562	0.06832	0.2089:0.5201:0.0:0.2711	.	1580;1438;1643	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1643;1643;1438;1580;1438	ENSP00000377699:T1643M;ENSP00000359686:T1643M;ENSP00000416526:T1438M;ENSP00000287534:T1580M;ENSP00000377697:T1438M	ENSP00000287534:T1580M	T	+	2	0	GPR112	135258459	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.260000	0.18424	0.006000	0.14734	0.425000	0.28330	ACG		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135430793	C	T	135430793	3	4	53	1	0	0	0	0	1	0	0	0	6629	536	19	1	4938	1	GPR112	23	135430793	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	444114	135430793	19839767	73	3390											
DNASE1L1	1774	broad.mit.edu	37	chrX	153633852	153633852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcattgaaggcgcagatgcGaaaggcctgggccccattgg	9	6	16	10	2	0	2	0	1	0	1	0	3	0	2	3	5	1	2	3	5	2	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:153633852G>A	ENST00000393638.1	-	2	344	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.R20C	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	20					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCAGATGCGAAAGGCCTGG	0.607																																						uc004fks.1																			0				lung(6)	6						c.(58-60)Cgc>Tgc		Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.							85	60	68					X																	153633852		2203	4299	6502	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153633852G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.58C>T	X.37:g.153633852G>A	ENSP00000377255:p.Arg20Cys					DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	p.R20C	NM_006730	NP_006721	P49184	DNSL1_HUMAN			1	249	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		20					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.58C>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486021	0.44147	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000447892;ENST00000451865;ENST00000412184;ENST00000424626;ENST00000432135	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.65	2.84	0.33178	Endonuclease/exonuclease/phosphatase (2);	0.165378	0.40640	N	0.001057	T	0.65228	0.2671	M	0.90425	3.115	0.38408	D	0.945854	D	0.89917	1.0	D	0.81914	0.995	T	0.68911	-0.5284	10	0.87932	D	0	45.5967	7.0012	0.24811	0.2292:0.0:0.7708:0.0	.	20	P49184	DNSL1_HUMAN	C	20	ENSP00000358824:R20C;ENSP00000377255:R20C;ENSP00000014935:R20C;ENSP00000358823:R20C;ENSP00000358822:R20C;ENSP00000309168:R20C;ENSP00000393346:R20C;ENSP00000393000:R20C	ENSP00000014935:R20C	R	-	1	0	DNASE1L1	153287046	0.971000	0.33674	1.000000	0.80357	0.964000	0.63967	2.019000	0.41001	0.769000	0.33313	0.589000	0.80489	CGC		0.607	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			A	153633852	G	A	153633852	3	1	53	1	0	0	0	0	1	0	0	0	4661	1058	37	2	878	2	DNASE1L1	23	153633852	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	18203059	153633852	1636708	74	3391											
LCK	3932	broad.mit.edu	37	chr1	32740011	32740011	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaactgccattatcccatAgtcccactggatggcaaggg	11	8	11	11	0	0	1	0	0	0	1	2	3	2	2	3	3	2	1	3	3	4	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:32740011A>T	ENST00000336890.5	+	2	219	c.81A>T	c.(79-81)atA>atT	p.I27I	LCK_ENST00000333070.4_Silent_p.I27I|LCK_ENST00000373564.3_Silent_p.I27I	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	27	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ATTATCCCATAGTCCCACTGG	0.547			T	TRB@	T-ALL																																	uc001bux.3				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(79-81)atA>atT		Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	Dasatinib(DB01254)						101	88	92					1																	32740011		2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740011A>T	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.81A>T	1.37:g.32740011A>T						LCK_uc001buy.3_Silent_p.I27I|LCK_uc001buz.3_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.3_Silent_p.I27I	p.I27I	NM_005356	NP_005347	P06239	LCK_HUMAN			1	219	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	27			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.81A>T	CCDS359.1																																																																																				0.547	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		T	32740011	A	T	32740011	2	4	54	1	0	0	0	0	0	0	0	1	8676	410	15	5		5	LCK	1	32740011	Silent	SNP	A	TCGA-06-0646-01A-01D-1492-08		32740011	216510610	1	3392											
AKR1A1	10327	broad.mit.edu	37	chr1	46027470	46027470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtttcagggggcaatgGcggcttcctgtgttctactg	4	14	14	9	1	2	0	1	0	1	0	3	0	3	0	1	4	1	4	1	4	2	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46027470G>A	ENST00000372070.3	+	3	751	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	AKR1A1_ENST00000471651.1_Missense_Mutation_p.A2T|AKR1A1_ENST00000351829.4_Missense_Mutation_p.A2T	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	2					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GGGGGCAATGGCGGCTTCCTG	0.522																																						uc021omx.1																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(4-6)Gcg>Acg		Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.							123	121	122					1																	46027470		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46027470G>A	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.4G>A	1.37:g.46027470G>A	ENSP00000361140:p.Ala2Thr					AKR1A1_uc009vxw.3_Missense_Mutation_p.A2T|AKR1A1_uc021omy.1_Missense_Mutation_p.A2T|AKR1A1_uc001cod.3_Missense_Mutation_p.A2T|AKR1A1_uc001coe.3_Missense_Mutation_p.A2T	p.A2T	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN			3	422	+	Acute lymphoblastic leukemia(166;0.155)		2					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.4G>A	CCDS523.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627454	0.14257	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.35789	1.29;1.49;1.29	5.72	-1.9	0.07665	NADP-dependent oxidoreductase domain (1);	0.761307	0.13409	N	0.390017	T	0.13200	0.0320	N	0.03608	-0.345	0.21579	N	0.99963	B	0.02656	0.0	B	0.01281	0.0	T	0.17899	-1.0354	10	0.34782	T	0.22	.	5.6336	0.17524	0.4538:0.0:0.4223:0.1238	.	2	P14550	AK1A1_HUMAN	T	2	ENSP00000361140:A2T;ENSP00000398414:A2T;ENSP00000312606:A2T	ENSP00000312606:A2T	A	+	1	0	AKR1A1	45800057	0.394000	0.25246	0.337000	0.25536	0.150000	0.21749	0.368000	0.20399	-0.329000	0.08527	0.644000	0.83932	GCG		0.522	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		A	46027470	G	A	46027470	3	1	54	1	0	0	0	0	1	0	0	0	465	1203	42	3	6	3	AKR1A1	1	46027470	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	13287459	46027470	203223151	2	3393											
CCDC17	149483	broad.mit.edu	37	chr1	46086575	46086575	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcgcaccacactcacCtgaggaatcccattcagctg	9	8	7	17	1	2	1	2	1	0	0	4	2	4	2	4	1	2	2	4	1	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46086575C>T	ENST00000528266.1	-	11	1746	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000421127.2_Splice_Site_p.Q524Q|CCDC17_ENST00000343901.2_Splice_Site_p.Q501Q|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	533										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCACACTCACCTGAGGAATCC	0.592																																						uc010olt.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.e11+1		Homo sapiens coiled-coil domain containing 17 (CCDC17), transcript variant 1, mRNA.							54	46	49					1																	46086575		2203	4300	6503	SO:0001630	splice_region_variant	149483							g.chr1:46086575C>T		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1599+1G>A	1.37:g.46086575C>T						CCDC17_uc010ols.2_Splice_Site_p.Q524_splice|CCDC17_uc001com.4_Splice_Site_p.Q354_splice|CCDC17_uc001con.4_Splice_Site|CCDC17_uc009vxz.3_Intron	p.Q533_splice	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN			11	1749	-	Acute lymphoblastic leukemia(166;0.155)		533					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Silent	SNP	ENST00000528266.1	37	c.1599_splice	CCDS44131.2																																																																																				0.592	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500	Silent	T	46086575	C	T	46086575	5	4	54	1	0	0	0	0	0	0	1	0	2793	695	24	3	281	3	CCDC17	1	46086575	Splice_Site	SNP	C	TCGA-06-0646-01A-01D-1492-08	59105	46086575	203164046	3	3394											
CDKN2C	1031	broad.mit.edu	37	chr1	51436083	51436083	+	Frame_Shift_Del	DEL	A	A	-																															agttggcgtccgcagctgccAggggggacctagagcaactt																										TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:51436083delA	ENST00000262662.1	+	3	2077	c.43delA	c.(43-45)aggfs	p.R15fs	CDKN2C_ENST00000371761.3_Frame_Shift_Del_p.R15fs|CDKN2C_ENST00000396148.1_Frame_Shift_Del_p.R15fs			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	15					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.R15fs*4(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGCAGCTGCCAGGGGGGACCT	0.468			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Deletion - Frameshift(1)	p.0?(11)|p.R15fs*4(2)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(4)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(43-45)aggfs		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.							65	66	65					1																	51436083		2203	4300	6503	SO:0001589	frameshift_variant	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51436083delA	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.43delA	1.37:g.51436083delA	ENSP00000262662:p.Arg15fs					CDKN2C_uc001csg.3_Frame_Shift_Del_p.R15fs	p.R15fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	1	2018	+			15					Q8TB83	Frame_Shift_Del	DEL	ENST00000262662.1	37	c.43delA	CCDS555.1																																																																																				0.468	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		-	51436083	A	-	51436083	7	5	54	1	0	1	0	1	0	0	0	0	3165	179	7	0	45	0	CDKN2C	1	51436083	Frame_Shift_Del	DEL	A	TCGA-06-0646-01A-01D-1492-08	5349508	51436083	197814538	4	3395											
FCRL4	83417	broad.mit.edu	37	chr1	157556156	157556156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtatcccctgtgccttcagCcacggagcagacaaggacca	10	6	11	14	1	1	1	1	0	0	1	2	3	2	3	5	3	3	2	5	3	2	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157556156C>T	ENST00000271532.1	-	6	1072	c.937G>A	c.(937-939)Gct>Act	p.A313T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	313	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTGCCTTCAGCCACGGAGCAG	0.597																																						uc001fqw.3																			0		p.V312M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(937-939)Gct>Act		Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.							83	75	77					1																	157556156		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556156C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.937G>A	1.37:g.157556156C>T	ENSP00000271532:p.Ala313Thr					FCRL4_uc010phy.2_Non-coding_Transcript	p.A313T	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	1073	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	313			Ig-like C2-type 4.		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.937G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529837	0.27387	.	.	ENSG00000163518	ENST00000271532	T	0.11821	2.74	4.12	3.2	0.36748	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.614199	0.13465	N	0.385837	T	0.08044	0.0201	L	0.58669	1.825	0.09310	N	1	P	0.38148	0.62	P	0.46718	0.525	T	0.31724	-0.9933	10	0.13853	T	0.58	.	9.3546	0.38159	0.2134:0.7866:0.0:0.0	.	313	Q96PJ5	FCRL4_HUMAN	T	313	ENSP00000271532:A313T	ENSP00000271532:A313T	A	-	1	0	FCRL4	155822780	0.064000	0.20934	0.011000	0.14972	0.065000	0.16274	0.176000	0.16782	1.036000	0.39998	0.467000	0.42956	GCT		0.597	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		T	157556156	C	T	157556156	3	4	54	1	0	0	0	0	1	0	0	0	5797	739	26	3	638	3	FCRL4	1	157556156	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	106120073	157556156	91694465	5	3396											
FCRL2	79368	broad.mit.edu	37	chr1	157718679	157718679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaccattgacatacactGgctgcagctcctccatgtct	9	11	6	15	0	2	1	1	1	1	0	4	1	4	1	3	1	3	3	3	1	1	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157718679G>T	ENST00000361516.3	-	9	1427	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FCRL2_ENST00000368181.4_Missense_Mutation_p.P176Q|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	460					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACATACACTGGCTGCAGCTC	0.502																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1378-1380)cCa>cAa		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							83	82	82					1																	157718679		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157718679G>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1379C>A	1.37:g.157718679G>T	ENSP00000355157:p.Pro460Gln					FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	p.P460Q	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		8	1438	-	all_hematologic(112;0.0378)		460					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1379C>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772914	0.69992	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181	T;T	0.22336	1.96;3.18	4.03	-0.532	0.11890	.	.	.	.	.	T	0.19565	0.0470	L	0.58669	1.825	0.09310	N	1	D;D;B	0.89917	0.99;1.0;0.22	P;D;B	0.83275	0.858;0.996;0.042	T	0.05801	-1.0863	9	0.87932	D	0	.	2.9179	0.05759	0.2223:0.0:0.3994:0.3783	.	176;460;207	Q96LA5-5;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	Q	176;460;176	ENSP00000355157:P460Q;ENSP00000357163:P176Q	ENSP00000292389:P176Q	P	-	2	0	FCRL2	155985303	0.001000	0.12720	0.508000	0.27688	0.914000	0.54420	-0.126000	0.10563	0.097000	0.17492	0.655000	0.94253	CCA		0.502	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		T	157718679	G	T	157718679	3	4	54	1	0	0	0	0	1	0	0	0	5795	1348	47	5	163	5	FCRL2	1	157718679	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	162523	157718679	91531942	6	3397											
CEP350	9857	broad.mit.edu	37	chr1	179965731	179965731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttcagttccagccatctgGaatcaaagcacgtatactgt	12	12	7	10	1	3	0	2	0	1	0	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:179965731G>A	ENST00000367607.3	+	6	857	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	147					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCCATCTGGAATCAAAGCA	0.378																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(439-441)Gaa>Aaa		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							41	39	39					1																	179965731		2202	4300	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179965731G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.439G>A	1.37:g.179965731G>A	ENSP00000356579:p.Glu147Lys					CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.3_5'UTR	p.E147K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			5	822	+			147					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.439G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423465	0.62733	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.57595	0.39;0.99	5.1	5.1	0.69264	.	0.140761	0.31897	N	0.006888	T	0.51787	0.1695	L	0.27053	0.805	0.54753	D	0.999983	B;B;P	0.50272	0.361;0.361;0.933	B;B;P	0.51101	0.039;0.086;0.659	T	0.45891	-0.9230	9	.	.	.	.	18.4523	0.90709	0.0:0.0:1.0:0.0	.	147;147;121	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	K	147;121	ENSP00000356579:E147K;ENSP00000435808:E121K	.	E	+	1	0	CEP350	178232354	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	7.113000	0.77095	2.526000	0.85167	0.579000	0.79373	GAA		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		A	179965731	G	A	179965731	3	1	54	1	0	0	0	0	1	0	0	0	3254	1175	41	3	457	3	CEP350	1	179965731	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	22247052	179965731	69284890	7	3398											
RYR2	6262	broad.mit.edu	37	chr1	237802446	237802446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagccatcaaaatcGccgaggatccttcccgagat	13	7	10	11	3	1	2	1	0	0	2	4	6	3	4	4	2	1	0	4	2	4	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:237802446G>A	ENST00000366574.2	+	46	7377	c.7060G>A	c.(7060-7062)Gcc>Acc	p.A2354T	RYR2_ENST00000360064.6_Missense_Mutation_p.A2352T|RYR2_ENST00000542537.1_Missense_Mutation_p.A2338T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2354	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCAAAATCGCCGAGGATCC	0.493																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7060-7062)Gcc>Acc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							99	101	100					1																	237802446		1926	4120	6046	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802446G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7060G>A	1.37:g.237802446G>A	ENSP00000355533:p.Ala2354Thr						p.A2354T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7180	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2354			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7060G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968057	0.53507	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97994	-4.65;-4.65;-4.65	5.05	5.05	0.67936	.	0.100087	0.39475	N	0.001344	D	0.91821	0.7412	N	0.03608	-0.345	0.80722	D	1	B	0.24258	0.1	B	0.21151	0.033	D	0.89376	0.3678	10	0.56958	D	0.05	.	12.0573	0.53542	0.0:0.0:0.7089:0.2911	.	2354	Q92736	RYR2_HUMAN	T	2354;2352;2338	ENSP00000355533:A2354T;ENSP00000353174:A2352T;ENSP00000443798:A2338T	ENSP00000353174:A2352T	A	+	1	0	RYR2	235869069	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	3.204000	0.51082	2.498000	0.84270	0.561000	0.74099	GCC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237802446	G	A	237802446	3	1	54	1	0	0	0	0	1	0	0	0	13769	1087	38	1	7242	1	RYR2	1	237802446	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	57836715	237802446	11448175	8	3399											
CCDC150	284992	broad.mit.edu	37	chr2	197540931	197540931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgctggatgcagcccatgCcagtatcacaaatgaactac	13	9	8	11	0	1	1	1	1	0	0	1	2	1	2	2	1	6	3	2	1	4	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr2:197540931C>T	ENST00000389175.4	+	11	1337	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.A69V|CCDC150_ENST00000423093.2_Missense_Mutation_p.A69V	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	401										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGCCCATGCCAGTATCACA	0.388																																						uc002utp.1																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1201-1203)gCc>gTc		Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.							145	144	144					2																	197540931		1918	4133	6051	SO:0001583	missense	284992							g.chr2:197540931C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1202C>T	2.37:g.197540931C>T	ENSP00000373827:p.Ala401Val					CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Missense_Mutation_p.A69V	p.A401V	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			10	1337	+			401					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1202C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102868	0.56183	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.48522	0.81	5.27	4.38	0.52667	.	0.434461	0.19680	N	0.108539	T	0.38772	0.1053	L	0.51422	1.61	0.29007	N	0.887082	P;P	0.46064	0.872;0.872	B;B	0.38562	0.276;0.276	T	0.35748	-0.9776	10	0.28530	T	0.3	.	11.5363	0.50639	0.0:0.9139:0.0:0.0861	.	69;401	B4DZ03;Q8NCX0	.;CC150_HUMAN	V	69;401;69	ENSP00000373827:A401V	ENSP00000272831:A69V	A	+	2	0	CCDC150	197249176	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.880000	0.48530	2.737000	0.93849	0.563000	0.77884	GCC		0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		T	197540931	C	T	197540931	3	4	54	1	0	0	0	0	1	0	0	0	2785	739	26	3	1244	3	CCDC150	2	197540931	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		197540931	45658442	9	3400											
APPL1	26060	broad.mit.edu	37	chr3	57302493	57302493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaacagaaagaactcaAtaaacaaaaacagattgaaa	25	4	6	6	0	1	4	1	1	0	3	1	5	1	4	0	0	5	1	0	0	10	2	rs144769112	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:57302493A>G	ENST00000288266.3	+	21	2108	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	654	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		aaagaactcaataaacaaaaa	0.308													A|||	3	0.000599042	0.0015	0	5008	,	,		17251	0		0.001	False		,,,				2504	0					uc003dio.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1960-1962)aAt>aGt		Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.		A	,SER/ASN,	3,4397	6.2+/-15.9	0,3,2197	102	97	99		,1961,	0.8	1	3	dbSNP_134	99	6,8594	5.0+/-18.6	0,6,4294	yes	utr-3,missense,utr-3	APPL1,ASB14	NM_001142733.2,NM_012096.2,NM_130387.5	,46,	0,9,6491	GG,GA,AA		0.0698,0.0682,0.0692	,benign,	,654/710,	57302493	9,12991	2200	4300	6500	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57302493A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1961A>G	3.37:g.57302493A>G	ENSP00000288266:p.Asn654Ser					APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	p.N654S	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	20	2108	+			654			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1961A>G	CCDS2882.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	A	0.540	-0.853875	0.02630	6.82E-4	6.98E-4	ENSG00000157500	ENST00000288266	T	0.08896	3.04	3.86	0.785	0.18584	.	0.501380	0.23694	N	0.045489	T	0.02688	0.0081	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44513	-0.9323	10	0.02654	T	1	-23.5591	4.5347	0.12022	0.2106:0.3546:0.4348:0.0	.	654	Q9UKG1	DP13A_HUMAN	S	654	ENSP00000288266:N654S	ENSP00000288266:N654S	N	+	2	0	APPL1	57277533	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.832000	0.27490	0.174000	0.19809	-0.321000	0.08615	AAT		0.308	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		G	57302493	A	G	57302493	3	3	54	1	0	0	0	0	1	0	0	0	817	101	4	4	2043	4	APPL1	3	57302493	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		57302493	140719937	10	3401											
MAGI1	9223	broad.mit.edu	37	chr3	65342645	65342645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatactctctgctgcctttcGgatcccttgcgtgtgcccgc	3	14	9	15	3	1	0	0	0	1	0	4	1	2	1	3	1	5	1	3	1	2	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:65342645G>A	ENST00000402939.2	-	23	3796	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1295					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTGCCTTTCGGATCCCTTGC	0.592																																						uc003dmn.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3796-3798)cCg>cTg		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.							156	146	149					3																	65342645		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342645G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3797C>T	3.37:g.65342645G>A	ENSP00000385450:p.Pro1266Leu					MAGI1_uc003dmm.3_3'UTR	p.P1266L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	22	4323	-		Lung NSC(201;0.0016)	1295					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3797C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	8.895	0.955023	0.18507	.	.	ENSG00000151276	ENST00000402939	T	0.12465	2.68	4.6	4.6	0.57074	.	0.301431	0.31636	N	0.007305	T	0.08935	0.0221	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21999	-1.0229	10	0.22706	T	0.39	-2.2796	11.4787	0.50312	0.0966:0.0:0.9034:0.0	.	1266	Q96QZ7-2	.	L	1266	ENSP00000385450:P1266L	ENSP00000385450:P1266L	P	-	2	0	MAGI1	65317685	1.000000	0.71417	0.564000	0.28396	0.781000	0.44180	4.258000	0.58822	2.097000	0.63578	0.491000	0.48974	CCG		0.592	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		A	65342645	G	A	65342645	3	1	54	1	0	0	0	0	1	0	0	0	9190	1116	39	2	595	2	MAGI1	3	65342645	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	8040152	65342645	132679785	11	3402											
TMPRSS7	344805	broad.mit.edu	37	chr3	111794198	111794198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttcctccgcccttcaccGcatcatcggaggcacagaca	9	7	9	16	3	2	1	2	0	0	1	5	3	4	2	4	2	0	3	4	2	0	2	rs142998665	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:111794198G>A	ENST00000452346.2	+	15	1817	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R479H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	605					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCCTTCACCGCATCATCGGA	0.537													G|||	8	0.00159744	0	0	5008	,	,		19876	0.0079		0	False		,,,				2504	0					uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1435-1437)cGc>cAc		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							101	107	105					3																	111794198		1958	4166	6124	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111794198G>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1814G>A	3.37:g.111794198G>A	ENSP00000398236:p.Arg605His					TMPRSS7_uc011bhr.1_Missense_Mutation_p.R334H	p.R479H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			12	1606	+			605			CUB 2.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1436G>A		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	19.70	3.877243	0.72294	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.66280	-0.2;-0.2	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.81984	-0.0682	10	0.87932	D	0	.	18.5933	0.91222	0.0:0.0:1.0:0.0	.	605;479	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	H	605;593;579;479	ENSP00000398236:R605H;ENSP00000411645:R479H	ENSP00000411645:R479H	R	+	2	0	TMPRSS7	113276888	1.000000	0.71417	0.749000	0.31150	0.141000	0.21300	8.812000	0.91959	2.678000	0.91216	0.655000	0.94253	CGC		0.537	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		A	111794198	G	A	111794198	3	1	54	1	0	0	0	0	1	0	0	0	16249	1087	38	1	1482	1	TMPRSS7	3	111794198	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	46451553	111794198	86228232	12	3403											
ABCF3	55324	broad.mit.edu	37	chr3	183906608	183906608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaactggaggagattgAggctgacaaggcacctgcca	12	6	13	10	0	0	3	0	2	0	1	0	5	0	4	3	4	3	2	3	4	2	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:183906608A>G	ENST00000429586.2	+	8	1081	c.896A>G	c.(895-897)gAg>gGg	p.E299G	ABCF3_ENST00000292808.5_Missense_Mutation_p.E293G|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	299	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGAGATTGAGGCTGACAAG	0.532																																						uc003fmz.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(895-897)gAg>gGg		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.							84	96	92					3																	183906608		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183906608A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.896A>G	3.37:g.183906608A>G	ENSP00000411471:p.Glu299Gly					ABCF3_uc003fna.2_Missense_Mutation_p.E293G|ABCF3_uc003fnb.2_5'UTR	p.E299G	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	1029	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		299			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.896A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546635	0.65198	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92048	-2.96;-2.95	5.24	5.24	0.73138	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	N	0.00500	-1.43	0.80722	D	1	D;B	0.69078	0.997;0.094	D;B	0.70016	0.967;0.123	D	0.91641	0.5327	10	0.54805	T	0.06	-24.8741	14.3112	0.66416	1.0:0.0:0.0:0.0	.	293;299	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	G	299;293	ENSP00000411471:E299G;ENSP00000292808:E293G	ENSP00000292808:E293G	E	+	2	0	ABCF3	185389302	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.442000	0.90317	1.968000	0.57251	0.533000	0.62120	GAG		0.532	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		G	183906608	A	G	183906608	3	3	54	1	0	0	0	0	1	0	0	0	67	304	11	4	926	4	ABCF3	3	183906608	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08	72112410	183906608	14115822	13	3404											
SORCS2	57537	broad.mit.edu	37	chr4	7719828	7719828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccctcacgccgccccGgggcctgcaggtcagcattc	4	6	12	19	3	2	0	2	0	0	0	3	0	2	0	6	3	3	2	6	3	0	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:7719828G>A	ENST00000507866.2	+	18	2451	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R609Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	781					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCCGCCCCGGGGCCTGCAG	0.652																																						uc003gkb.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2341-2343)cGg>cAg		Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.							27	33	31					4																	7719828		2075	4186	6261	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7719828G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2342G>A	4.37:g.7719828G>A	ENSP00000422185:p.Arg781Gln					SORCS2_uc011bwi.2_Missense_Mutation_p.R609Q	p.R781Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			17	2342	+			781					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2342G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960009	0.34565	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68181	-0.31;-0.31	4.41	4.41	0.53225	PKD domain (1);	0.477880	0.18419	N	0.141801	T	0.52980	0.1768	L	0.52759	1.655	0.31788	N	0.63005	D;P	0.54207	0.965;0.786	B;B	0.35278	0.199;0.185	T	0.66337	-0.5949	10	0.52906	T	0.07	.	8.4928	0.33110	0.1443:0.0:0.8557:0.0	.	609;781	B5MED8;Q96PQ0	.;SORC2_HUMAN	Q	781;609	ENSP00000422185:R781Q;ENSP00000329124:R609Q	ENSP00000329124:R609Q	R	+	2	0	SORCS2	7770728	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	1.063000	0.30567	2.284000	0.76573	0.655000	0.94253	CGG		0.652	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		A	7719828	G	A	7719828	3	1	54	1	0	0	0	0	1	0	0	0	14931	1116	39	2	2412	2	SORCS2	4	7719828	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		7719828	183434448	14	3405											
CLOCK	9575	broad.mit.edu	37	chr4	56348941	56348941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattttactacagcttacGgtaaacaacataacatacta	16	12	3	10	1	1	0	1	0	0	0	1	0	1	0	0	1	8	2	0	1	9	8	rs149959118		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:56348941G>A	ENST00000309964.4	-	3	262	c.12C>T	c.(10-12)acC>acT	p.T4T	CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Silent_p.T4T|CLOCK_ENST00000513440.1_Silent_p.T4T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	4					cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TACAGCTTACGGTAAACAACA	0.274																																						uc003haz.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(10-12)acC>acT		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.		G		1,4403	2.1+/-5.4	0,1,2201	99	86	90		12	5.2	1	4	dbSNP_134	90	0,8588		0,0,4294	no	coding-synonymous	CLOCK	NM_004898.2		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		4/847	56348941	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56348941G>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.12C>T	4.37:g.56348941G>A						CLOCK_uc003hba.1_Silent_p.T4T	p.T4T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		4	938	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		4					A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	c.12C>T	CCDS3500.1																																																																																				0.274	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		A	56348941	G	A	56348941	2	1	54	1	0	0	0	0	0	0	0	1	3549	1103	39	2		2	CLOCK	4	56348941	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	48629113	56348941	134805335	15	3406											
USP38	84640	broad.mit.edu	37	chr4	144141519	144141519	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatttcggcccaatggAtttgatgacaacgacccacc	10	11	8	12	2	1	2	1	2	0	0	2	4	1	3	3	2	1	1	3	2	2	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:144141519A>T	ENST00000307017.4	+	10	3545	c.3039A>T	c.(3037-3039)ggA>ggT	p.G1013G		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	1013					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCCCAATGGATTTGATGACA	0.458																																						uc003ijb.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(3037-3039)ggA>ggT		Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.							88	91	90					4																	144141519		2203	4300	6503	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144141519A>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.3039A>T	4.37:g.144141519A>T						USP38_uc003ijc.3_Non-coding_Transcript	p.G1013G	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	3573	+	all_hematologic(180;0.158)		1013					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.3039A>T	CCDS3758.1																																																																																				0.458	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		T	144141519	A	T	144141519	2	4	54	1	0	0	0	0	0	0	0	1	17066	320	12	5		5	USP38	4	144141519	Silent	SNP	A	TCGA-06-0646-01A-01D-1492-08	87792578	144141519	47012757	16	3407											
PCDHB6	56130	broad.mit.edu	37	chr5	140532029	140532029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggtgcccgagggtccctttCcagggcatctggtggatgtg	4	10	16	11	2	1	0	0	0	1	0	3	2	3	1	3	5	1	1	3	5	0	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr5:140532029C>G	ENST00000231136.1	+	1	2191	c.2191C>G	c.(2191-2193)Cca>Gca	p.P731A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P595A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	731					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTCCCTTTCCAGGGCATCT	0.612																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2191-2193)Cca>Gca		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							105	117	113					5																	140532029		2202	4300	6502	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532029C>G	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2191C>G	5.37:g.140532029C>G	ENSP00000231136:p.Pro731Ala						p.P731A	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2191	+			731					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2191C>G	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280563	0.59758	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.53857	0.6;0.64	4.45	4.45	0.53987	.	.	.	.	.	T	0.55353	0.1915	M	0.70108	2.13	0.38867	D	0.956611	B	0.14805	0.011	B	0.21151	0.033	T	0.59268	-0.7486	9	0.46703	T	0.11	.	17.1018	0.86652	0.0:1.0:0.0:0.0	.	731	Q9Y5E3	PCDB6_HUMAN	A	595;731	ENSP00000438466:P595A;ENSP00000231136:P731A	ENSP00000231136:P731A	P	+	1	0	PCDHB6	140512213	0.003000	0.15002	0.812000	0.32479	0.027000	0.11550	1.520000	0.35899	2.187000	0.69744	0.556000	0.70494	CCA		0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		G	140532029	C	G	140532029	3	3	54	1	0	0	0	0	1	0	0	0	11546	855	30	5	2193	5	PCDHB6	5	140532029	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		140532029	40383231	17	3408											
FILIP1	27145	broad.mit.edu	37	chr6	76063397	76063397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctctagcatgcgccGgtaggtttctttctgttttt	4	17	10	10	2	3	0	0	0	3	0	3	0	3	0	1	2	4	6	1	2	2	6			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:76063397G>A	ENST00000237172.7	-	4	817	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	FILIP1_ENST00000393004.2_Missense_Mutation_p.R163W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R64W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	163										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGCATGCGCCGGTAGGTTTCT	0.428																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(496-498)Cgg>Tgg		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							126	115	118					6																	76063397		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76063397G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.487C>T	6.37:g.76063397G>A	ENSP00000237172:p.Arg163Trp					FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.3_Missense_Mutation_p.R64W|FILIP1_uc003pia.3_Missense_Mutation_p.R163W	p.R166W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			4	1026	-			163					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.496C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395343	0.83011	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.52295	0.67;0.67;0.67	5.79	4.91	0.64330	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.68488	-0.5395	10	0.87932	D	0	-16.7465	16.1884	0.81971	0.0:0.0:0.8657:0.1343	.	163;163;163	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	163;163;64	ENSP00000376728:R163W;ENSP00000237172:R163W;ENSP00000359037:R64W	ENSP00000237172:R163W	R	-	1	2	FILIP1	76120117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.104000	0.50306	1.427000	0.47276	0.561000	0.74099	CGG		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		A	76063397	G	A	76063397	3	1	54	1	0	0	0	0	1	0	0	0	5894	1115	39	2	3166	2	FILIP1	6	76063397	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		76063397	95051670	18	3409											
SGK1	6446	broad.mit.edu	37	chr6	134493370	134493370	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggatgttgtgctgttgtgTtcaatgttctccttgcagag	5	17	13	6	0	2	1	1	0	1	1	3	2	2	2	1	1	2	6	1	1	1	5			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:134493370T>C	ENST00000237305.7	-	8	835	c.747A>G	c.(745-747)gaA>gaG	p.E249E	SGK1_ENST00000413996.3_Silent_p.E263E|SGK1_ENST00000367858.5_Silent_p.E344E|SGK1_ENST00000475719.2_Silent_p.E205E|SGK1_ENST00000367857.5_Silent_p.E239E|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Silent_p.E277E	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCTGTTGTGTTCAATGTTCT	0.468																																						uc003qen.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(745-747)gaA>gaG		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.							270	241	251					6																	134493370		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493370T>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.747A>G	6.37:g.134493370T>C						SGK1_uc003qeo.4_Silent_p.E344E|SGK1_uc011ect.2_Silent_p.E239E|SGK1_uc011ecu.2_Silent_p.E205E|SGK1_uc011ecv.2_Silent_p.E263E|SGK1_uc011ecw.2_Silent_p.E277E	p.E249E	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	7	836	-	Colorectal(23;0.221)		249			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.747A>G	CCDS5170.1																																																																																				0.468	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			C	134493370	T	C	134493370	2	2	54	1	0	0	0	0	0	0	0	1	14207	1722	60	4		4	SGK1	6	134493370	Silent	SNP	T	TCGA-06-0646-01A-01D-1492-08	58429973	134493370	36621697	19	3410											
LRP11	84918	broad.mit.edu	37	chr6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccttgctaagtggaggcGcatccttttctgagaaagaa	11	10	11	9	1	1	2	0	1	1	2	2	4	2	3	2	2	2	2	2	2	3	4	rs150922217	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:150174287G>A	ENST00000239367.2	-	2	628	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_ENST00000546019.1_5'UTR|RP11-350J20.12_ENST00000472053.2_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.A208V	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	208						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438																																						uc003qng.2																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(622-624)gCg>gTg		Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.		G	VAL/ALA	0,4406		0,0,2203	57	52	53		623	3.1	1	6	dbSNP_134	53	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LRP11	NM_032832.5	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	208/501	150174287	2,13004	2203	4300	6503	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150174287G>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.623C>T	6.37:g.150174287G>A	ENSP00000239367:p.Ala208Val					LRP11_uc003qnh.1_Missense_Mutation_p.A208V	p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	1	947	-		Ovarian(120;0.0907)	208					Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.623C>T	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491527	0.26774	0.0	2.33E-4	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.13089	2.62;2.62	5.54	3.09	0.35607	PKD domain (1);	0.264933	0.42821	D	0.000651	T	0.02494	0.0076	N	0.17631	0.505	0.80722	D	1	P;P	0.49447	0.833;0.924	B;B	0.30105	0.096;0.111	T	0.50311	-0.8843	10	0.52906	T	0.07	-13.944	10.7567	0.46241	0.0:0.0:0.363:0.637	.	208;208	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	V	208	ENSP00000239367:A208V;ENSP00000356338:A208V	ENSP00000239367:A208V	A	-	2	0	LRP11	150215980	1.000000	0.71417	0.981000	0.43875	0.538000	0.34931	3.589000	0.53972	0.359000	0.24239	-0.274000	0.10170	GCG		0.438	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		A	150174287	G	A	150174287	3	1	54	1	0	0	0	0	1	0	0	0	8953	1087	38	1	903	1	LRP11	6	150174287	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	15680917	150174287	20940780	20	3411											
SEMA3C	10512	broad.mit.edu	37	chr7	80433493	80433493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagtcagtttttctttgaAgaagaagtacaccttagcat	12	14	8	7	0	3	3	2	1	1	2	3	3	3	3	1	0	2	3	1	0	5	5			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:80433493A>G	ENST00000265361.3	-	8	1291	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.F244L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.F262L|SEMA3C_ENST00000536800.1_Missense_Mutation_p.F96L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	244	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTCTTTGAAGAAGAAGTAC	0.368																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(784-786)Ttc>Ctc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							147	139	142					7																	80433493		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80433493A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.730T>C	7.37:g.80433493A>G	ENSP00000265361:p.Phe244Leu					SEMA3C_uc003uhj.3_Missense_Mutation_p.F244L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	p.F262L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			7	863	-			244			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.784T>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443182	0.63067	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.187313	0.64402	D	0.000017	T	0.20251	0.0487	L	0.53561	1.675	0.46586	D	0.99911	P;B;B	0.41498	0.752;0.057;0.07	B;B;B	0.37731	0.257;0.053;0.088	T	0.01512	-1.1336	10	0.66056	D	0.02	.	15.8229	0.78673	1.0:0.0:0.0:0.0	.	96;262;244	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	L	244;244;262;96	ENSP00000265361:F244L;ENSP00000411193:F244L;ENSP00000445649:F262L;ENSP00000438258:F96L	ENSP00000265361:F244L	F	-	1	0	SEMA3C	80271429	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.230000	0.72301	2.130000	0.65690	0.477000	0.44152	TTC		0.368	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		G	80433493	A	G	80433493	3	3	54	1	0	0	0	0	1	0	0	0	14026	72	3	4	1569	4	SEMA3C	7	80433493	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		80433493	78705170	21	3412											
COL1A2	1278	broad.mit.edu	37	chr7	94037543	94037543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgtgttggtgcccctggcCcagctgtaagtgcttccatt	5	12	12	12	1	0	0	0	0	0	0	1	1	1	0	4	2	3	4	4	2	1	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:94037543C>T	ENST00000297268.6	+	14	1159	c.688C>T	c.(688-690)Cca>Tca	p.P230S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	230					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P230S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCCCCTGGCCCAGCTGTAAG	0.398										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.P230S(2)	central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(688-690)Cca>Tca		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						112	118	116					7																	94037543		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037543C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.688C>T	7.37:g.94037543C>T	ENSP00000297268:p.Pro230Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P230S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1159	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		230					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.688C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814960	0.50527	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96587	-4.06	5.85	5.85	0.93711	.	0.054541	0.85682	D	0.000000	D	0.95175	0.8436	L	0.41356	1.27	0.58432	D	0.999998	P	0.49635	0.926	P	0.46362	0.514	D	0.94057	0.7323	10	0.38643	T	0.18	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	230	P08123	CO1A2_HUMAN	S	230;231	ENSP00000297268:P230S	ENSP00000297268:P230S	P	+	1	0	COL1A2	93875479	0.993000	0.37304	0.999000	0.59377	0.625000	0.37756	3.030000	0.49720	2.941000	0.99782	0.655000	0.94253	CCA		0.398	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94037543	C	T	94037543	3	4	54	1	0	0	0	0	1	0	0	0	3678	623	22	3	742	3	COL1A2	7	94037543	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	13604050	94037543	65101120	22	3413											
TRRAP	8295	broad.mit.edu	37	chr7	98552870	98552870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaagatcattgtggaggaGgggcacaccgtcccgcagct	9	6	15	11	3	1	1	1	0	0	1	2	4	2	4	2	5	1	3	2	5	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:98552870G>A	ENST00000359863.4	+	40	6068	c.5859G>A	c.(5857-5859)gaG>gaA	p.E1953E	TRRAP_ENST00000355540.3_Silent_p.E1935E|TRRAP_ENST00000446306.3_Silent_p.E1934E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1953					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.E1935E(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGGAGGAGGGGCACACCG	0.642																																						uc003upp.3																			1	Substitution - coding silent(1)	p.E1935E(1)	central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5857-5859)gaG>gaA		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							50	43	46					7																	98552870		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552870G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5859G>A	7.37:g.98552870G>A						TRRAP_uc011kis.2_Silent_p.E1935E|TRRAP_uc003upr.3_Silent_p.E1652E	p.E1953E	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	6068	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1953					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5859G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549459	0.13374	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.56	2.36	0.29203	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54423	-0.8296	4	.	.	.	.	10.0779	0.42370	0.3011:0.0:0.6989:0.0	.	.	.	.	K	1675	.	.	R	+	2	0	TRRAP	98390806	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.901000	0.48695	0.730000	0.32425	-0.136000	0.14681	AGG		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98552870	G	A	98552870	2	1	54	1	0	0	0	0	0	0	0	1	16598	991	35	3		3	TRRAP	7	98552870	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	4515327	98552870	60585793	23	3414											
RELN	5649	broad.mit.edu	37	chr7	103191709	103191709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagtctcactggatccGcggatgagctatcagtcgaa	10	10	10	11	3	2	1	2	1	1	0	6	4	4	3	2	2	1	1	2	2	2	2	rs368438329		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:103191709G>A	ENST00000428762.1	-	41	6266	c.6107C>T	c.(6106-6108)gCg>gTg	p.A2036V	RELN_ENST00000424685.2_Missense_Mutation_p.A2036V|RELN_ENST00000343529.5_Missense_Mutation_p.A2036V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2036					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGGATCCGCGGATGAGCT	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6106-6108)gCg>gTg		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	56	47	50		6107,6107	6	1	7		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2036/3461,2036/3459	103191709	1,13005	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191709G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6107C>T	7.37:g.103191709G>A	ENSP00000392423:p.Ala2036Val					RELN_uc022ajq.1_Missense_Mutation_p.A2036V|RELN_uc010liz.3_Missense_Mutation_p.A2036V	p.A2036V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	40	6267	-			2036					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6107C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823536	0.32237	0.0	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.96	5.96	0.96718	Neuraminidase (1);	0.265034	0.43416	D	0.000570	T	0.17238	0.0414	L	0.34521	1.04	0.38245	D	0.941433	P;P	0.52061	0.59;0.95	B;B	0.23018	0.016;0.043	T	0.11060	-1.0603	10	0.40728	T	0.16	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	2036;2036	P78509-2;P78509	.;RELN_HUMAN	V	2036	ENSP00000392423:A2036V;ENSP00000345694:A2036V;ENSP00000388446:A2036V	ENSP00000345694:A2036V	A	-	2	0	RELN	102978945	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	4.784000	0.62411	2.831000	0.97527	0.650000	0.86243	GCG		0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103191709	G	A	103191709	3	1	54	1	0	0	0	0	1	0	0	0	13220	1087	38	1	4375	1	RELN	7	103191709	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	4638839	103191709	55946954	24	3415											
KEL	3792	broad.mit.edu	37	chr7	142639989	142639989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggctagccccccaacGtctgcagcattctctaagaa	10	8	9	14	2	2	1	0	0	2	1	3	2	2	1	3	1	4	3	3	1	4	3	rs367661434		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:142639989G>A	ENST00000355265.2	-	17	2388	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	638					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCCCCAACGTCTGCAGCAT	0.502																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1912-1914)gaC>gaT		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		G		0,4406		0,0,2203	103	95	98		1914	-1.9	0	7		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KEL	NM_000420.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		638/733	142639989	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639989G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1914C>T	7.37:g.142639989G>A							p.D638D	NM_000420	NP_000411	P23276	KELL_HUMAN			16	2124	-	Melanoma(164;0.059)		638					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1914C>T	CCDS34766.1																																																																																				0.502	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142639989	G	A	142639989	2	1	54	1	0	0	0	0	0	0	0	1	8142	1136	40	1		1	KEL	7	142639989	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	39448280	142639989	16498674	25	3416											
COL22A1	169044	broad.mit.edu	37	chr8	139606337	139606337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccccatggggccggccCggcctggaagcccatctttt	4	8	12	17	2	1	0	0	0	1	0	2	1	2	1	6	5	1	1	6	5	1	2	rs200298766		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr8:139606337C>T	ENST00000303045.6	-	63	4984	c.4538G>A	c.(4537-4539)cGg>cAg	p.R1513Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1493Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1513	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1513Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGCCGGCCCGGCCTGGAAG	0.662										HNSCC(7;0.00092)																												uc003yvd.3																			1	Substitution - Missense(1)	p.R1513Q(2)	ovary(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4537-4539)cGg>cAg		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.																																				SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606337C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4538G>A	8.37:g.139606337C>T	ENSP00000303153:p.Arg1513Gln	HNSCC(7;0.00092)				COL22A1_uc011ljo.2_Missense_Mutation_p.R793Q	p.R1513Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		62	4985	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1513			Collagen-like 15.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4538G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573540	0.65765	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93906	-3.31;-3.31	5.92	4.14	0.48551	.	0.138852	0.30930	N	0.008598	D	0.88108	0.6348	N	0.16368	0.405	0.19945	N	0.999945	P;B	0.37083	0.581;0.175	B;B	0.43950	0.437;0.02	T	0.77504	-0.2563	10	0.13470	T	0.59	.	12.0321	0.53403	0.0:0.8609:0.0:0.1391	.	1493;1513	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	1513;1493;1206	ENSP00000303153:R1513Q;ENSP00000387655:R1493Q	ENSP00000303153:R1513Q	R	-	2	0	COL22A1	139675519	0.955000	0.32602	0.476000	0.27291	0.817000	0.46193	3.106000	0.50322	0.861000	0.35504	0.650000	0.86243	CGG		0.662	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139606337	C	T	139606337	3	4	54	1	0	0	0	0	1	0	0	0	3681	652	23	2	354	2	COL22A1	8	139606337	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		139606337	6757685	26	3417											
C5	727	broad.mit.edu	37	chr9	123745005	123745005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgataattctcaactagCcacaataaagaattacaaat	20	11	3	7	0	1	2	1	1	1	1	2	2	1	2	1	0	3	0	1	0	10	6			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:123745005C>T	ENST00000223642.1	-	26	3347	c.3318G>A	c.(3316-3318)tgG>tgA	p.W1106*		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1106					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCTCAACTAGCCACAATAAAG	0.299																																						uc004bkv.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3316-3318)tgG>tgA		Homo sapiens complement component 5 (C5), mRNA.	Eculizumab(DB01257)						60	61	60					9																	123745005		2202	4284	6486	SO:0001587	stop_gained	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123745005C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3318G>A	9.37:g.123745005C>T	ENSP00000223642:p.Trp1106*						p.W1106*	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	25	3348	-			1106					Q14CJ0|Q27I61	Nonsense_Mutation	SNP	ENST00000223642.1	37	c.3318G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	40	8.230429	0.98717	.	.	ENSG00000106804	ENST00000223642	.	.	.	5.42	4.52	0.55395	.	0.062090	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7962	0.57560	0.0:0.9216:0.0:0.0784	.	.	.	.	X	1106	.	ENSP00000223642:W1106X	W	-	3	0	C5	122784826	1.000000	0.71417	0.996000	0.52242	0.754000	0.42855	4.976000	0.63785	1.294000	0.44707	0.484000	0.47621	TGG		0.299	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		T	123745005	C	T	123745005	4	4	54	1	0	0	0	0	0	1	0	0	2280	740	26	3	1776	3	C5	9	123745005	Nonsense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		123745005	17468426	27	3418											
PAOX	196743	broad.mit.edu	37	chr10	135203245	135203245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcagacggcgccggCgcccaggtatgtggcgtgcc	4	6	15	16	5	0	1	0	0	0	1	1	1	1	1	4	4	2	2	4	4	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr10:135203245C>T	ENST00000278060.5	+	6	1469	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Intron|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	600					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGCGCCGGCGCCCAGGTAT	0.741																																						uc001lmv.3																			0		p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1384-1386)ggC>ggT		Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.							13	15	14					10																	135203245		2185	4270	6455	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135203245C>T	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1386C>T	10.37:g.135203245C>T						PAOX_uc001lmx.3_Intron|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Intron	p.G462G	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	5	1466	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	600					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.1386C>T	CCDS7683.1																																																																																				0.741	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		T	135203245	C	T	135203245	2	4	54	1	0	0	0	0	0	0	0	1	11423	755	27	1		1	PAOX	10	135203245	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		135203245	331502	28	3419											
POU2AF1	5450	broad.mit.edu	37	chr11	111225126	111225126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactggctctgggatagAgatggggagctggacaaact	12	7	16	6	0	1	1	0	0	1	1	1	6	1	5	0	6	2	2	0	6	3	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:111225126A>G	ENST00000393067.3	-	5	1145	c.631T>C	c.(631-633)Tct>Cct	p.S211P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	211					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCTGGGATAGAGATGGGGAGC	0.622			T	BCL6	NHL																																	uc001plg.4				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(631-633)Tct>Cct		Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.							55	58	57					11																	111225126		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111225126A>G		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.631T>C	11.37:g.111225126A>G	ENSP00000376786:p.Ser211Pro						p.S211P	NM_006235	NP_006226	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	886	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	211					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.631T>C	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167841	0.78339	.	.	ENSG00000110777	ENST00000393067	T	0.32023	1.47	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.41710	1.295	0.44880	D	0.997894	D	0.89917	1.0	D	0.91635	0.999	T	0.24584	-1.0156	10	0.33141	T	0.24	-3.9004	14.4288	0.67236	1.0:0.0:0.0:0.0	.	211	Q16633	OBF1_HUMAN	P	211	ENSP00000376786:S211P	ENSP00000376786:S211P	S	-	1	0	POU2AF1	110730336	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.228000	0.58619	2.067000	0.61834	0.460000	0.39030	TCT		0.622	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		G	111225126	A	G	111225126	3	3	54	1	0	0	0	0	1	0	0	0	12270	304	11	4	143	4	POU2AF1	11	111225126	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		111225126	23781390	29	3420											
HYOU1	10525	broad.mit.edu	37	chr11	118919049	118919049	+	Frame_Shift_Del	DEL	A	A	-																															ctcacgctgctcctctgtggAcacttcctggtactcgggct																										TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:118919049delA	ENST00000404233.3	-	20	2411	c.2287delT	c.(2287-2289)tccfs	p.S763fs	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Frame_Shift_Del_p.S701fs|HYOU1_ENST00000525859.1_Frame_Shift_Del_p.S701fs	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	763					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCTCTGTGGACACTTCCTGG	0.617																																						uc001puu.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2287-2289)tccfs		Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.							94	93	93					11																	118919049		2200	4295	6495	SO:0001589	frameshift_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919049delA	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2287delT	11.37:g.118919049delA	ENSP00000384144:p.Ser763fs					HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs|HYOU1_uc010ryw.2_Non-coding_Transcript	p.S763fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	19	2480	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	763					A8C1Z0|B7Z909|Q2I204|Q53H25	Frame_Shift_Del	DEL	ENST00000404233.3	37	c.2287delT	CCDS8408.1																																																																																				0.617	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		-	118919049	A	-	118919049	7	5	54	1	0	1	0	1	0	0	0	0	7470	275	10	0	740	0	HYOU1	11	118919049	Frame_Shift_Del	DEL	A	TCGA-06-0646-01A-01D-1492-08	7693923	118919049	16087467	30	3421											
CHEK1	1111	broad.mit.edu	37	chr11	125505406	125505406	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatacctcaacccttggaaAaaaatcgattctgctcctct	13	11	4	13	1	3	0	1	0	2	0	5	2	4	1	3	1	3	1	3	1	5	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:125505406A>T	ENST00000534070.1	+	7	951	c.696A>T	c.(694-696)aaA>aaT	p.K232N	CHEK1_ENST00000427383.2_Missense_Mutation_p.K248N|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Missense_Mutation_p.K232N|CHEK1_ENST00000524737.1_Missense_Mutation_p.K232N|CHEK1_ENST00000428830.2_Missense_Mutation_p.K232N|CHEK1_ENST00000438015.1_Missense_Mutation_p.K232N|CHEK1_ENST00000278916.3_Missense_Mutation_p.K232N	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	232	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCCTTGGAAAAAAATCGATT	0.373								Other conserved DNA damage response genes																														uc009zbo.3																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(694-696)aaA>aaT	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.							86	93	91					11																	125505406		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505406A>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.696A>T	11.37:g.125505406A>T	ENSP00000435371:p.Lys232Asn					CHEK1_uc010sbi.2_Missense_Mutation_p.K232N|CHEK1_uc010sbh.2_Missense_Mutation_p.K248N|CHEK1_uc001qcf.4_Missense_Mutation_p.K232N|CHEK1_uc009zbp.3_Missense_Mutation_p.K232N|CHEK1_uc001qcg.4_Missense_Mutation_p.K232N	p.K232N	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	6	1593	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	232			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.696A>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253467	0.22965	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.84	3.69	0.42338	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052045	0.85682	D	0.000000	T	0.43919	0.1269	N	0.12663	0.25	0.80722	D	1	B;B;B;B	0.24368	0.004;0.102;0.022;0.022	B;B;B;B	0.22152	0.012;0.038;0.036;0.036	T	0.37709	-0.9694	10	0.35671	T	0.21	-14.6439	7.5854	0.27989	0.8249:0.0:0.1751:0.0	.	232;248;232;232	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	N	232;248;232;232;232;232;153;232	ENSP00000388648:K232N;ENSP00000391090:K248N;ENSP00000412504:K232N;ENSP00000442317:K232N;ENSP00000435371:K232N;ENSP00000432890:K232N;ENSP00000434646:K153N;ENSP00000278916:K232N	ENSP00000278916:K232N	K	+	3	2	CHEK1	125010616	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.277000	0.51654	1.945000	0.56424	0.519000	0.50382	AAA		0.373	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		T	125505406	A	T	125505406	3	4	54	1	0	0	0	0	1	0	0	0	3334	11	1	5	718	5	CHEK1	11	125505406	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08	6586357	125505406	9501110	31	3422											
ETNK1	55500	broad.mit.edu	37	chr12	22778163	22778163	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgagagcgggccgggctCagttcagctgctgtccagac	6	7	14	14	3	2	2	2	0	0	2	4	3	4	2	3	2	3	4	3	2	0	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:22778163C>G	ENST00000266517.4	+	1	155	c.66C>G	c.(64-66)ctC>ctG	p.L22L	ETNK1_ENST00000335148.3_Silent_p.L22L|RP11-268P4.4_ENST00000542076.1_RNA	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	22					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCCGGGCTCAGTTCAGCTG	0.726																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(64-66)ctC>ctG		Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.							12	16	15					12																	22778163		2190	4282	6472	SO:0001819	synonymous_variant	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22778163C>G	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.66C>G	12.37:g.22778163C>G						ETNK1_uc009ziz.3_Silent_p.L22L|ETNK1_uc001rfs.3_Silent_p.L22L	p.L22L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			0	88	+			22					G5E969	Silent	SNP	ENST00000266517.4	37	c.66C>G	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898803	0.17686	.	.	ENSG00000139163	ENST00000538218	.	.	.	4.62	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999962	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4009	7.2206	0.25985	0.0:0.7928:0.0:0.2072	.	.	.	.	X	13	.	.	S	+	2	0	ETNK1	22669430	0.001000	0.12720	0.004000	0.12327	0.173000	0.22820	0.617000	0.24359	1.162000	0.42619	0.558000	0.71614	TCA		0.726	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		G	22778163	C	G	22778163	2	3	54	1	0	0	0	0	0	0	0	1	5273	813	29	5		5	ETNK1	12	22778163	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		22778163	111073732	32	3423											
TMTC1	83857	broad.mit.edu	37	chr12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtaaaggactctctccGccaccacaaaacccaccctg	12	6	6	17	1	1	0	0	0	1	0	3	1	2	1	5	1	1	2	5	1	4	1	rs144467040	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:29757135G>A	ENST00000539277.1	-	7	1284	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	TMTC1_ENST00000381224.2_Missense_Mutation_p.A363V|TMTC1_ENST00000551659.1_Missense_Mutation_p.A471V|TMTC1_ENST00000552618.1_Missense_Mutation_p.A471V|TMTC1_ENST00000256062.5_Missense_Mutation_p.A301V|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	409						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507																																						uc021qwi.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1225-1227)gCg>gTg		Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	116	92	100		1226,902	4.8	1	12	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TMTC1	NM_001193451.1,NM_175861.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	409/883,301/775	29757135	2,13004	2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29757135G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1226C>T	12.37:g.29757135G>A	ENSP00000442046:p.Ala409Val					TMTC1_uc001riz.3_Missense_Mutation_p.A58V|TMTC1_uc001rja.3_Missense_Mutation_p.A145V|TMTC1_uc001rjb.3_Missense_Mutation_p.A301V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	p.A409V	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN			6	1285	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		409					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1226C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002475	0.93227	0.0	2.33E-4	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224;ENST00000550354	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	M	0.91459	3.21	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.999	P;D;P	0.77557	0.826;0.99;0.903	D	0.88725	0.3232	9	.	.	.	-14.6352	16.74	0.85456	0.0:0.0:1.0:0.0	.	363;409;471	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	V	172;301;471;471;409;363;8	ENSP00000256062:A301V;ENSP00000448112:A471V;ENSP00000449043:A471V;ENSP00000442046:A409V;ENSP00000370622:A363V;ENSP00000449054:A8V	.	A	-	2	0	TMTC1	29648402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.083000	0.94067	2.346000	0.79739	0.655000	0.94253	GCG		0.507	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		A	29757135	G	A	29757135	3	1	54	1	0	0	0	0	1	0	0	0	16257	1087	38	1	1470	1	TMTC1	12	29757135	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	6978972	29757135	104094760	33	3424											
MAPK1IP1L	93487	broad.mit.edu	37	chr14	55529424	55529424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctcctcaaggctggccagGctccaacccttggaataatc	10	8	8	15	0	1	0	1	0	0	0	4	1	3	1	5	4	1	2	5	4	4	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr14:55529424G>T	ENST00000395468.4	+	3	284	c.107G>T	c.(106-108)gGc>gTc	p.G36V	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	36	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						GGCTGGCCAGGCTCCAACCCT	0.537																																						uc001xbq.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(106-108)gGc>gTc		Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.							62	60	61					14																	55529424		2203	4300	6503	SO:0001583	missense	93487							g.chr14:55529424G>T	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 32", "mitogen activated protein kinase 1 interacting protein 1-like"	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.107G>T	14.37:g.55529424G>T	ENSP00000378851:p.Gly36Val						p.G36V	NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN			2	271	+			36			Pro-rich.		B2RDD8|Q96BG5	Missense_Mutation	SNP	ENST00000395468.4	37	c.107G>T	CCDS32085.1	.	.	.	.	.	.	.	.	.	.	.	7.701	0.693002	0.15039	.	.	ENSG00000168175	ENST00000395468	.	.	.	5.22	4.31	0.51392	.	0.568289	0.17021	N	0.190133	T	0.38054	0.1026	N	0.19112	0.55	0.18873	N	0.999982	B	0.14012	0.009	B	0.31101	0.124	T	0.37197	-0.9716	9	0.42905	T	0.14	1.1931	13.8667	0.63592	0.0:0.3113:0.6886:0.0	.	36	Q8NDC0	MISSL_HUMAN	V	36	.	ENSP00000378851:G36V	G	+	2	0	MAPK1IP1L	54599177	0.045000	0.20229	0.005000	0.12908	0.341000	0.28922	2.308000	0.43690	1.389000	0.46526	0.585000	0.79938	GGC		0.537	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578		T	55529424	G	T	55529424	3	4	54	1	0	0	0	0	1	0	0	0	9278	1203	42	5	113	5	MAPK1IP1L	14	55529424	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		55529424	51820116	34	3425											
ZNF174	7727	broad.mit.edu	37	chr16	3458844	3458844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagagaagccataccaGtgtggccagtgtgggaaaag	13	6	15	7	0	0	1	0	0	0	1	0	4	0	3	3	3	2	0	3	3	4	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:3458844G>A	ENST00000268655.4	+	3	1734	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	ZNF174_ENST00000571936.1_Silent_p.Q383Q	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	383					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCCATACCAGTGTGGCCAGT	0.542																																						uc002cvc.3																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(1147-1149)caG>caA		Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.							52	58	56					16																	3458844		2197	4300	6497	SO:0001819	synonymous_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3458844G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1149G>A	16.37:g.3458844G>A							p.Q383Q	NM_003450	NP_003441	Q15697	ZN174_HUMAN			2	1964	+			383					Q53Y68|Q9BQ34	Silent	SNP	ENST00000268655.4	37	c.1149G>A	CCDS10504.1																																																																																				0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		A	3458844	G	A	3458844	2	1	54	1	0	0	0	0	0	0	0	1	17741	1020	36	3		3	ZNF174	16	3458844	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08		3458844	86895909	35	3426											
FUS	2521	broad.mit.edu	37	chr16	31202308	31202308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactacggggatgatcgtcGtggtggcagaggaggctatg	9	9	17	6	3	0	2	0	1	0	1	2	4	0	4	0	6	2	2	0	6	3	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:31202308G>A	ENST00000254108.7	+	14	1523	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.R474H|FUS_ENST00000380244.3_Missense_Mutation_p.R472H	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	473	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATGATCGTCGTGGTGGCAGA	0.602			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																	uc002ebf.3				Dom	yes		16	16p11.2	2521	T	"fusion, derived from t(12;16) malignant liposarcoma"			"M, L"	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"		"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1417-1419)cGt>cAt		Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.							61	72	68					16																	31202308		2196	4300	6496	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202308G>A	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1418G>A	16.37:g.31202308G>A	ENSP00000254108:p.Arg473His					FUS_uc002ebe.2_Missense_Mutation_p.R469H|FUS_uc002ebg.3_Missense_Mutation_p.R268H|FUS_uc002ebh.3_Missense_Mutation_p.R472H	p.R473H	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	13	1523	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	473			Arg/Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.1418G>A	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616893	0.66672	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.96685	-4.09	5.06	2.02	0.26589	.	0.139364	0.43260	D	0.000594	D	0.93337	0.7876	L	0.55990	1.75	0.18873	N	0.999981	B;B;B;B;B	0.13594	0.002;0.004;0.008;0.002;0.004	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001	D	0.86221	0.1631	10	0.54805	T	0.06	-0.23	9.6978	0.40167	0.234:0.0:0.766:0.0	.	473;473;472;247;473	Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;FUS_HUMAN	H	473;402	ENSP00000254108:R473H	ENSP00000254108:R473H	R	+	2	0	FUS	31109809	0.998000	0.40836	0.511000	0.27724	0.923000	0.55619	3.321000	0.51999	0.176000	0.19873	0.591000	0.81541	CGT		0.602	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		A	31202308	G	A	31202308	3	1	54	1	0	0	0	0	1	0	0	0	6100	1145	40	1	1472	1	FUS	16	31202308	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	27743464	31202308	59152445	36	3427											
PDPR	55066	broad.mit.edu	37	chr16	70190589	70190589	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgccacgtttgcctgggctTtgtgcacaatttttctgagg	5	14	12	10	2	1	1	0	1	1	0	1	1	1	1	2	2	2	3	2	2	1	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:70190589T>G	ENST00000288050.4	+	19	3404	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C	PDPR_ENST00000567046.1_Missense_Mutation_p.F174C|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Missense_Mutation_p.F161C|PDPR_ENST00000398122.3_Missense_Mutation_p.F716C|PDPR_ENST00000568530.1_Missense_Mutation_p.F816C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	816					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCCTGGGCTTTGTGCACAAT	0.552																																						uc002eyf.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2446-2448)tTt>tGt		Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.							154	173	167					16																	70190589		2077	4226	6303	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190589T>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2447T>G	16.37:g.70190589T>G	ENSP00000288050:p.Phe816Cys					CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C|PDPR_uc021tkj.1_5'Flank	p.F816C	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3404	+			816					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2447T>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285013	0.80803	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.77489	-1.1;-1.1;-1.1	6.03	4.92	0.64577	Glycine cleavage T-protein, C-terminal barrel (1);	0.212775	0.48767	D	0.000161	D	0.87216	0.6122	M	0.85945	2.785	0.53688	D	0.999977	D;D	0.65815	0.995;0.984	P;P	0.62813	0.907;0.823	D	0.88231	0.2903	10	0.87932	D	0	.	11.5986	0.50988	0.1373:0.0:0.0:0.8627	.	483;816	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	C	816;716;483;161	ENSP00000288050:F816C;ENSP00000381190:F716C;ENSP00000441690:F161C	ENSP00000205055:F483C	F	+	2	0	PDPR	68748090	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	5.098000	0.64548	1.062000	0.40625	0.455000	0.32223	TTT		0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		G	70190589	T	G	70190589	3	3	54	1	0	0	0	0	1	0	0	0	11689	1841	64	5	2513	5	PDPR	16	70190589	Missense_Mutation	SNP	T	TCGA-06-0646-01A-01D-1492-08	38988281	70190589	20164164	37	3428											
MON1B	22879	broad.mit.edu	37	chr16	77229553	77229553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgcctcatttaccacgtgGctgagaaggagacactactg	10	9	11	11	2	1	2	1	1	0	2	1	4	1	2	2	2	3	1	2	2	3	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:77229553G>A	ENST00000248248.3	+	5	1767	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T	MON1B_ENST00000320859.6_Nonsense_Mutation_p.W136*|MON1B_ENST00000439557.2_Missense_Mutation_p.A364T|MON1B_ENST00000545553.1_Missense_Mutation_p.A327T	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	473										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTACCACGTGGCTGAGAAGGA	0.587																																						uc002fez.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1417-1419)Gct>Act		Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.							79	73	75					16																	77229553		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77229553G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1417G>A	16.37:g.77229553G>A	ENSP00000248248:p.Ala473Thr					MON1B_uc010vnf.2_Missense_Mutation_p.A364T|MON1B_uc010vng.2_Missense_Mutation_p.A327T|MON1B_uc002ffa.3_Missense_Mutation_p.A353T	p.A473T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			4	1747	+			473					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1417G>A	CCDS10925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.112622|6.112622	0.97296|0.97296	.|.	.|.	ENSG00000103111|ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553|ENST00000320859	.|.	.|.	.|.	5.12|5.12	3.14|3.14	0.36123|0.36123	.|.	0.049835|.	0.85682|.	N|.	0.000000|.	T|.	0.30230|.	0.0758|.	N|N	0.17082|0.17082	0.46|0.46	0.29307|0.29307	N|N	0.868279|0.868279	B;P;P;P|.	0.37207|.	0.014;0.587;0.587;0.576|.	B;B;B;B|.	0.39068|.	0.019;0.289;0.194;0.11|.	T|.	0.22068|.	-1.0227|.	9|.	0.14252|0.33141	T|T	0.57|0.24	.|.	10.2361|10.2361	0.43284|0.43284	0.1682:0.0:0.8318:0.0|0.1682:0.0:0.8318:0.0	.|.	327;364;353;473|.	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2|.	.;.;.;MON1B_HUMAN|.	T|X	473;364;327|136	.|.	ENSP00000248248:A473T|ENSP00000324833:W136X	A|W	+|+	1|3	0|0	MON1B|MON1B	75787054|75787054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.475000|6.475000	0.73582|0.73582	0.815000|0.815000	0.34398|0.34398	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.587	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		A	77229553	G	A	77229553	3	1	54	1	0	0	0	0	1	0	0	0	9699	1203	42	3	1431	3	MON1B	16	77229553	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	7038964	77229553	13125200	38	3429											
LRRC50	123872	broad.mit.edu	37	chr16	84183927	84183927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccccagcattgaatgataCgctgtatttacactttaaag	13	13	6	9	1	0	2	0	2	0	0	0	2	0	2	2	0	4	3	2	0	7	8	rs375812500		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:84183927C>T	ENST00000378553.5	+	3	456	c.332C>T	c.(331-333)aCg>aTg	p.T111M	DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	111			Missing (in CILD13). {ECO:0000269|PubMed:19944405}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAATGATACGCTGTATTTA	0.378																																						uc002fhl.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(331-333)aCg>aTg		Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.		C	MET/THR	0,4400		0,0,2200	82	78	79		332	3	0	16		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAAF1	NM_178452.4	81	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	111/726	84183927	1,12999	2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84183927C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.332C>T	16.37:g.84183927C>T	ENSP00000367815:p.Thr111Met					DNAAF1_uc010chi.1_Non-coding_Transcript	p.T111M	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			2	513	+			111		Missing (in CILD13).			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.332C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066267	0.36470	0.0	1.16E-4	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37584	1.19;1.67	5.13	3.05	0.35203	.	0.124408	0.53938	D	0.000049	T	0.51126	0.1656	M	0.62154	1.92	0.25950	N	0.982762	D	0.76494	0.999	D	0.67103	0.949	T	0.37384	-0.9708	10	0.72032	D	0.01	-8.0059	9.2501	0.37549	0.1449:0.7794:0.0:0.0758	.	111	Q8NEP3	DAAF1_HUMAN	M	111	ENSP00000334593:T111M;ENSP00000367815:T111M	ENSP00000334593:T111M	T	+	2	0	DNAAF1	82741428	0.591000	0.26824	0.029000	0.17559	0.123000	0.20343	2.411000	0.44600	1.167000	0.42706	0.591000	0.81541	ACG		0.378	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		T	84183927	C	T	84183927	3	4	54	1	0	0	0	0	1	0	0	0	9009	536	19	1	342	1	LRRC50	16	84183927	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	6954374	84183927	6170826	39	3430											
USP6	9098	broad.mit.edu	37	chr17	5042663	5042663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccagcccagttccagCggcccatttgctcagcttcc	6	8	8	19	1	1	0	1	0	0	0	3	0	3	0	6	1	4	3	6	1	0	3	rs577155682		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:5042663C>T	ENST00000574788.1	+	22	3422	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	USP6_ENST00000250066.6_Missense_Mutation_p.R398W|USP6_ENST00000332776.4_Missense_Mutation_p.R398W|USP6_ENST00000304328.5_Missense_Mutation_p.R81W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	398					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAGTTCCAGCGGCCCATTTG	0.657			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								C|||	1	0.000199681	0	0	5008	,	,		15567	0		0	False		,,,				2504	0.001					uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1192-1194)Cgg>Tgg		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							33	38	36					17																	5042663		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042663C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1192C>T	17.37:g.5042663C>T	ENSP00000460380:p.Arg398Trp					USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|DQ573130_uc002gbd.3_5'Flank	p.R398W	NM_004505	NP_004496	P35125	UBP6_HUMAN			21	3422	+			398					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1192C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782986	0.31593	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.25749	2.39;2.88;1.78	0.0465	0.0465	0.14256	.	0.847860	0.10577	N	0.658403	T	0.19005	0.0456	N	0.03608	-0.345	0.09310	N	1	D;D	0.67145	0.996;0.994	P;P	0.58210	0.835;0.689	T	0.18555	-1.0333	9	0.72032	D	0.01	.	.	.	.	.	81;398	P35125-2;P35125	.;UBP6_HUMAN	W	398;398;81	ENSP00000328010:R398W;ENSP00000250066:R398W;ENSP00000305473:R81W	ENSP00000250066:R398W	R	+	1	2	USP6	4983387	0.098000	0.21812	0.138000	0.22173	0.140000	0.21249	0.877000	0.28106	0.132000	0.18615	0.134000	0.15878	CGG		0.657	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		T	5042663	C	T	5042663	3	4	54	1	0	0	0	0	1	0	0	0	17083	759	27	1	1242	1	USP6	17	5042663	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		5042663	76152547	40	3431											
MKS1	54903	broad.mit.edu	37	chr17	56288050	56288050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctacaaagaagtggaCgtagagattgtcatactcat	15	11	8	7	1	3	2	2	0	1	2	3	4	3	3	0	1	2	1	0	1	6	5			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:56288050C>T	ENST00000393119.2	-	11	1068	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	MKS1_ENST00000537529.2_Missense_Mutation_p.V322I|MKS1_ENST00000337050.7_Missense_Mutation_p.V332I|MKS1_ENST00000313863.6_Missense_Mutation_p.V332I|MKS1_ENST00000546108.1_Missense_Mutation_p.V129I	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	332	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAAGTGGACGTAGAGATTG	0.423																																						uc002ivr.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(994-996)Gtc>Atc		Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.							127	120	122					17																	56288050		1876	4107	5983	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56288050C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.994G>A	17.37:g.56288050C>T	ENSP00000376827:p.Val332Ile					MKS1_uc010wnq.2_Missense_Mutation_p.V129I|MKS1_uc021uam.1_Missense_Mutation_p.V322I	p.V332I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			10	1069	-			332			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.994G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494551	0.44352	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.5	4.54	0.55810	.	0.166139	0.53938	D	0.000050	T	0.55386	0.1917	L	0.28458	0.855	0.50813	D	0.999893	P;B	0.35923	0.528;0.011	B;B	0.31245	0.126;0.038	T	0.52764	-0.8532	10	0.25106	T	0.35	-29.7657	12.9001	0.58121	0.0:0.9211:0.0:0.0789	.	332;332	A8MPP8;Q9NXB0	.;MKS1_HUMAN	I	322;332;332;332;129	ENSP00000442096:V322I;ENSP00000376827:V332I;ENSP00000338407:V332I;ENSP00000443012:V129I	ENSP00000338407:V332I	V	-	1	0	MKS1	53643049	0.697000	0.27767	0.990000	0.47175	0.988000	0.76386	1.307000	0.33516	1.293000	0.44690	0.643000	0.83706	GTC		0.423	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56288050	C	T	56288050	3	4	54	1	0	0	0	0	1	0	0	0	9609	536	19	1	717	1	MKS1	17	56288050	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	51245387	56288050	24907160	41	3432											
LLGL2	3993	broad.mit.edu	37	chr17	73555474	73555474	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccggaccatcagctcGgacgcggtgctgcagcggtg	7	5	17	12	5	1	0	1	0	0	0	2	4	1	3	2	5	4	3	2	5	0	0	rs553929286	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:73555474G>C	ENST00000392550.3	+	6	630	c.513G>C	c.(511-513)tcG>tcC	p.S171S	LLGL2_ENST00000577200.1_Silent_p.S171S|LLGL2_ENST00000167462.5_Silent_p.S171S|LLGL2_ENST00000375227.4_Silent_p.S171S|LLGL2_ENST00000578363.1_Silent_p.S171S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	171					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCATCAGCTCGGACGCGGTGC	0.617																																						uc002joh.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(511-513)tcG>tcC		Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.							93	69	77					17																	73555474		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73555474G>C	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.513G>C	17.37:g.73555474G>C						LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.3_Silent_p.S171S|LLGL2_uc010dgg.2_Silent_p.S171S|LLGL2_uc002joj.3_Silent_p.S160S	p.S171S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		5	667	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		171					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.513G>C	CCDS32733.1																																																																																				0.617	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		C	73555474	G	C	73555474	2	2	54	1	0	0	0	0	0	0	0	1	8834	1103	39	5		5	LLGL2	17	73555474	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	17267424	73555474	7639736	42	3433											
RNF213	57674	broad.mit.edu	37	chr17	78355436	78355436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctggagcagttggccaaGatgctgggacacagtgccga	10	6	15	10	1	0	1	0	0	0	1	0	5	0	3	3	3	3	3	3	3	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:78355436G>A	ENST00000582970.1	+	57	14030	c.13887G>A	c.(13885-13887)aaG>aaA	p.K4629K	RNF213_ENST00000336301.6_Silent_p.K2702K|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.K4678K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4629					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTGGCCAAGATGCTGGGAC	0.567																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14032-14034)aaG>aaA		SubName: Full=Uncharacterized protein;							103	84	91					17																	78355436		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78355436G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13887G>A	17.37:g.78355436G>A						RNF213_uc021uen.1_Silent_p.K4629K|LOC100294362_uc002jyi.2_Intron	p.K4678K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		57	14177	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.14034G>A	CCDS58606.1																																																																																				0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78355436	G	A	78355436	2	1	54	1	0	0	0	0	0	0	0	1	13477	933	33	3		3	RNF213	17	78355436	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	4799962	78355436	2839774	43	3434											
DSC3	1825	broad.mit.edu	37	chr18	28584256	28584256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgttgcagcttggccggcCctgtcttttacagtaatagg	6	15	11	9	1	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	3	7			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr18:28584256C>T	ENST00000360428.4	-	13	2045	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	DSC3_ENST00000434452.1_Silent_p.R655R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	655	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTGGCCGGCCCTGTCTTTTA	0.383																																						uc002kwj.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1963-1965)agG>agA		Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.							114	116	115					18																	28584256		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28584256C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1965G>A	18.37:g.28584256C>T						DSC3_uc002kwi.4_Silent_p.R655R	p.R655R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	2120	-			655			Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1965G>A	CCDS32810.1																																																																																				0.383	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28584256	C	T	28584256	2	4	54	1	0	0	0	0	0	0	0	1	4767	622	22	3		3	DSC3	18	28584256	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		28584256	49492992	44	3435											
MUC16	94025	broad.mit.edu	37	chr19	9090417	9090417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagatggacttctgatcttGctgtcaagagttgtaaaacc	11	13	10	7	0	3	3	1	2	2	2	3	5	3	4	1	1	2	3	1	1	3	4	rs376940169		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:9090417G>C	ENST00000397910.4	-	1	1601	c.1398C>G	c.(1396-1398)agC>agG	p.S466R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	466	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S466R(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGATCTTGCTGTCAAGAG	0.522																																						uc002mkp.3																			2	Substitution - Missense(2)	p.S466R(3)	endometrium(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1396-1398)agC>agG		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							173	162	166					19																	9090417		1983	4162	6145	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090417G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1398C>G	19.37:g.9090417G>C	ENSP00000381008:p.Ser466Arg						p.S466R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	1602	-			466			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1398C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.891	-0.725498	0.03158	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.45	0.345	0.16011	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.11235	0.004	B	0.06405	0.002	T	0.35822	-0.9773	8	0.87932	D	0	.	5.5833	0.17262	0.0:0.3493:0.6507:0.0	.	466	B5ME49	.	R	466	ENSP00000381008:S466R	ENSP00000381008:S466R	S	-	3	2	MUC16	8951417	0.000000	0.05858	0.029000	0.17559	0.006000	0.05464	-0.197000	0.09518	0.169000	0.19679	-0.802000	0.03209	AGC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9090417	G	C	9090417	3	2	54	1	0	0	0	0	1	0	0	0	9973	1310	46	5	42461	5	MUC16	19	9090417	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		9090417	50038566	45	3436											
ZNF571	51276	broad.mit.edu	37	chr19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-																															cctgaatgaactctcaggtgGtaagtaagttgtgagccacg																								rs531640879	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:38056190_38056193delGTAA	ENST00000328550.2	-	4	1236_1239	c.1137_1140delTTAC	c.(1135-1140)acttacfs	p.TY379fs	ZNF571_ENST00000451802.2_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377														5	0.000998403	0	0	5008	,	,		22055	0		0	False		,,,				2504	0.0051					uc002ogs.1																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25								Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.																																				SO:0001589	frameshift_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056190_38056193delGTAA	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1137_1140delTTAC	19.37:g.38056194_38056197delGTAA	ENSP00000333660:p.Thr379fs					LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs				Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				-								Q2HIY0|Q3ZCU3|Q9NZX7	Frame_Shift_Del	DEL	ENST00000328550.2	37		CCDS12505.1																																																																																				0.377	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		-	38056193	GTAA	-	38056190	7	5	54	1	0	1	0	1	0	0	0	0	18000	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-06-0646-01A-01D-1492-08	28965773	38056190	21072793	46	3437											
REM1	28954	broad.mit.edu	37	chr20	30072181	30072181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcccgcagcgcacgccGccgggcactcaaggcccgct	7	2	13	19	6	1	0	1	0	0	0	1	1	1	0	4	2	2	4	4	2	1	0			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30072181G>A	ENST00000201979.2	+	5	1138	c.845G>A	c.(844-846)cGc>cAc	p.R282H	LINC00028_ENST00000435497.1_lincRNA	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	282	Arg-rich.|Calmodulin-binding. {ECO:0000250}.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCGCACGCCGCCGGGCACTC	0.701																																						uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(844-846)cGc>cAc		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.							4	6	6					20																	30072181		2029	4101	6130	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30072181G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.845G>A	20.37:g.30072181G>A	ENSP00000201979:p.Arg282His					LINC00028_uc010ztn.1_5'Flank	p.R282H	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	1129	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		282			Arg-rich.|Calmodulin-binding (By similarity).		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.845G>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433003	0.62844	.	.	ENSG00000088320	ENST00000201979	T	0.66815	-0.23	5.02	4.0	0.46444	.	0.464718	0.20623	N	0.088727	T	0.63885	0.2549	L	0.29908	0.895	0.33865	D	0.634302	D	0.71674	0.998	P	0.56088	0.791	T	0.72465	-0.4285	10	0.72032	D	0.01	.	8.3225	0.32136	0.147:0.0:0.853:0.0	.	282	O75628	REM1_HUMAN	H	282	ENSP00000201979:R282H	ENSP00000201979:R282H	R	+	2	0	REM1	29535842	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	2.453000	0.44970	2.585000	0.87301	0.561000	0.74099	CGC		0.701	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		A	30072181	G	A	30072181	3	1	54	1	0	0	0	0	1	0	0	0	13222	1087	38	1	859	1	REM1	20	30072181	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		30072181	32953339	47	3438											
HCK	3055	broad.mit.edu	37	chr20	30689234	30689234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctggaaaaaccgtcCggaggagcggccgaccttcg	8	5	15	13	6	0	0	0	0	0	0	2	4	1	3	4	4	3	2	4	4	2	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30689234C>T	ENST00000520553.1	+	13	1676	c.1430C>T	c.(1429-1431)cCg>cTg	p.P477L	HCK_ENST00000375862.2_Missense_Mutation_p.P497L|HCK_ENST00000538448.1_Missense_Mutation_p.P477L|HCK_ENST00000534862.1_Missense_Mutation_p.P478L|HCK_ENST00000518730.1_Missense_Mutation_p.P476L|HCK_ENST00000375852.2_Missense_Mutation_p.P498L	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P477L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AAAAACCGTCCGGAGGAGCGG	0.572																																						uc002wxh.3																			1	Substitution - Missense(1)	p.P477L(1)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1492-1494)cCg>cTg		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							57	49	52					20																	30689234		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30689234C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1430C>T	20.37:g.30689234C>T	ENSP00000429848:p.Pro477Leu					HCK_uc010gdy.3_Missense_Mutation_p.P478L|HCK_uc021wbv.1_Missense_Mutation_p.P477L|HCK_uc002wxi.3_Missense_Mutation_p.P476L	p.P498L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		12	1730	+			498			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1493C>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200789	0.94997	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000006	T	0.52208	0.1720	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.964;0.979	T	0.65113	-0.6247	10	0.87932	D	0	.	17.2488	0.87035	0.0:1.0:0.0:0.0	.	476;498	P08631-3;P08631	.;HCK_HUMAN	L	478;477;497;477;476;498	ENSP00000444986:P478L;ENSP00000441169:P477L;ENSP00000365022:P497L;ENSP00000429848:P477L;ENSP00000427757:P476L;ENSP00000365012:P498L	ENSP00000365012:P498L	P	+	2	0	HCK	30152895	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	7.649000	0.83500	2.560000	0.86352	0.561000	0.74099	CCG		0.572	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			T	30689234	C	T	30689234	3	4	54	1	0	0	0	0	1	0	0	0	6994	652	23	2	1549	2	HCK	20	30689234	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	617053	30689234	32336286	48	3439											
ELMO2	63916	broad.mit.edu	37	chr20	45023078	45023078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgggcgttagcacctGgccactcaatggccactttg	7	9	13	12	1	1	0	1	0	0	0	1	1	1	1	3	4	2	3	3	4	2	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:45023078G>A	ENST00000290246.6	-	3	238	c.44C>T	c.(43-45)cCa>cTa	p.P15L	ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.P15L|ELMO2_ENST00000439931.2_Missense_Mutation_p.P15L|ELMO2_ENST00000396391.1_Missense_Mutation_p.P15L|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	15					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTAGCACCTGGCCACTCAAT	0.547																																						uc010zxr.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(43-45)cCa>cTa		Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.							126	97	107					20																	45023078		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45023078G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.44C>T	20.37:g.45023078G>A	ENSP00000290246:p.Pro15Leu					ELMO2_uc002xrt.1_Missense_Mutation_p.P15L|ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	p.P15L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN			2	254	-		Myeloproliferative disorder(115;0.0122)	15					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.44C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138549	0.94560	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.46;2.46;2.46;2.46;1.83	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.71581	2.175	0.80722	D	1	D;P	0.63046	0.992;0.896	P;B	0.59487	0.858;0.334	T	0.49113	-0.8973	10	0.56958	D	0.05	-3.4505	16.7399	0.85456	0.0:0.0:1.0:0.0	.	15;15	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	15	ENSP00000290246:P15L;ENSP00000379673:P15L;ENSP00000396519:P15L;ENSP00000326172:P15L;ENSP00000416181:P15L	ENSP00000290246:P15L	P	-	2	0	ELMO2	44456485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.419000	0.82065	0.591000	0.81541	CCA		0.547	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		A	45023078	G	A	45023078	3	1	54	1	0	0	0	0	1	0	0	0	5066	1348	47	3	2198	3	ELMO2	20	45023078	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	14333844	45023078	18002442	49	3440											
ACRC	93953	broad.mit.edu	37	chrX	70823913	70823913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagcagtgatgattcGgaagctcccgacgacagcag	12	5	13	11	4	0	2	0	2	0	0	2	7	1	3	1	1	3	3	1	1	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823913G>A	ENST00000373695.1	+	7	1323	c.786G>A	c.(784-786)tcG>tcA	p.S262S	ACRC_ENST00000373696.3_Silent_p.S262S			Q96QF7	ACRC_HUMAN	acidic repeat containing	262	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.552																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(784-786)tcG>tcA		Homo sapiens acidic repeat containing (ACRC), mRNA.							19	20	20					X																	70823913		2069	4031	6100	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823913G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.786G>A	X.37:g.70823913G>A						BCYRN1_uc011mpt.1_Intron	p.S262S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			7	1287	+	Renal(35;0.156)		262			Asp/Ser-rich.		B9EG62	Silent	SNP	ENST00000373695.1	37	c.786G>A	CCDS35326.1																																																																																				0.552	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70823913	G	A	70823913	2	1	54	1	0	0	0	0	0	0	0	1	171	1103	39	2		2	ACRC	23	70823913	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08		70823913	84446647	50	3441			1	9		2	2	31	G		4.942257e-05
ACRC	93953	broad.mit.edu	37	chrX	70823943	70823943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagcagtgatgattcGgaagctcccgacgacagcag	12	5	13	11	4	0	2	0	2	0	0	2	7	1	3	1	1	3	3	1	1	1	1	rs368020183		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823943G>A	ENST00000373695.1	+	7	1353	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ACRC_ENST00000373696.3_Silent_p.S272S			Q96QF7	ACRC_HUMAN	acidic repeat containing	272	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.557																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(814-816)tcG>tcA		Homo sapiens acidic repeat containing (ACRC), mRNA.		G		0,3835		0,0,1632,571	57	58	57		816	0.1	0	X		57	1,6718		0,1,2424,1869	no	coding-synonymous	ACRC	NM_052957.4		0,1,4056,2440	AA,AG,GG,G		0.0149,0.0,0.0095		272/692	70823943	1,10553	2203	4294	6497	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823943G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.816G>A	X.37:g.70823943G>A						BCYRN1_uc011mpt.1_Intron	p.S272S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			7	1317	+	Renal(35;0.156)		272			Asp/Ser-rich.		B9EG62	Silent	SNP	ENST00000373695.1	37	c.816G>A	CCDS35326.1																																																																																				0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70823943	G	A	70823943	2	1	54	1	0	0	0	0	0	0	0	1	171	1103	39	2		2	ACRC	23	70823943	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	30	70823943	84446617	51	3442			1	9		2	2	31	G		4.942257e-05
DBT	1629	broad.mit.edu	37	chr1	100706430	100706430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccacatgtttgaaaatagCgaacacaaatctacagatga	18	9	6	8	1	1	3	0	2	1	1	1	4	1	3	1	0	4	1	1	0	7	4	rs533707792		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:100706430C>T	ENST00000370132.4	-	2	75	c.62G>A	c.(61-63)cGc>cAc	p.R21H	DBT_ENST00000370131.3_Missense_Mutation_p.R21H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	21					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTGAAAATAGCGAACACAAAT	0.313													C|||	1	0.000199681	0	0	5008	,	,		16853	0		0	False		,,,				2504	0.001					uc001dta.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(61-63)cGc>cAc		Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.							91	91	91					1																	100706430		2203	4296	6499	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100706430C>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.62G>A	1.37:g.100706430C>T	ENSP00000359151:p.Arg21His					DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Missense_Mutation_p.R21H	p.R21H	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	1	95	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	21					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.62G>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701243	0.30142	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.32988	1.44;1.43	5.38	0.74	0.18330	.	0.292012	0.39020	N	0.001484	T	0.04272	0.0118	N	0.11560	0.145	0.29612	N	0.846851	B	0.10296	0.003	B	0.04013	0.001	T	0.31752	-0.9932	10	0.41790	T	0.15	-0.5706	3.3097	0.07013	0.0:0.3619:0.2096:0.4285	.	21	P11182	ODB2_HUMAN	H	21	ENSP00000359151:R21H;ENSP00000359150:R21H	ENSP00000359150:R21H	R	-	2	0	DBT	100479018	0.968000	0.33430	0.987000	0.45799	0.754000	0.42855	0.368000	0.20399	0.327000	0.23409	0.655000	0.94253	CGC		0.313	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		T	100706430	C	T	100706430	3	4	55	1	0	0	0	0	1	0	0	0	4258	768	27	1	1426	1	DBT	1	100706430	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		100706430	148544191	1	3443											
ANP32E	81611	broad.mit.edu	37	chr1	150202934	150202934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgtactgagatcttttAttttgtttccactcagattg	8	19	6	8	0	2	2	1	1	1	2	3	3	3	2	1	0	2	2	1	0	3	8			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:150202934A>G	ENST00000314136.8	-	3	668	c.299T>C	c.(298-300)aTa>aCa	p.I100T	ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.I52T|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000533654.1_Missense_Mutation_p.I100T|ANP32E_ENST00000369114.5_Missense_Mutation_p.I100T|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	100					histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGATCTTTTATTTTGTTTCC	0.363																																						uc001etw.3																			0				breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15						c.(298-300)aTa>aCa		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member E (ANP32E), transcript variant 1, mRNA.							105	98	100					1																	150202934		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150202934A>G	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.299T>C	1.37:g.150202934A>G	ENSP00000324074:p.Ile100Thr					ANP32E_uc010pbu.2_Missense_Mutation_p.I52T|ANP32E_uc010pbv.2_Intron|ANP32E_uc001etv.4_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T	p.I100T	NM_030920	NP_001129951	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	669	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		100					B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.299T>C	CCDS946.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168665	0.78339	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369114;ENST00000533654;ENST00000532744	T;T;T;T;T	0.39056	1.99;1.99;1.1;1.1;1.99	6.02	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.83886	0.0282	10	0.87932	D	0	.	11.5214	0.50553	0.9303:0.0:0.0697:0.0	.	100;100;52	E9PLC4;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	T	100;52;100;100;50	ENSP00000324074:I100T;ENSP00000358115:I52T;ENSP00000358110:I100T;ENSP00000435215:I100T;ENSP00000432684:I50T	ENSP00000324074:I100T	I	-	2	0	ANP32E	148469558	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	9.107000	0.94261	1.093000	0.41377	0.448000	0.29417	ATA		0.363	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		G	150202934	A	G	150202934	3	3	55	1	0	0	0	0	1	0	0	0	709	449	16	4	527	4	ANP32E	1	150202934	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	49496504	150202934	99047687	2	3444											
HMCN1	83872	broad.mit.edu	37	chr1	186084452	186084452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtaaatgttcaaactactCtggcttgtgaggctactggg	10	13	11	7	0	2	1	1	1	1	0	2	1	2	1	0	3	3	4	0	3	6	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:186084452C>T	ENST00000271588.4	+	75	11696	c.11467C>T	c.(11467-11469)Ctg>Ttg	p.L3823L	HMCN1_ENST00000367492.2_Silent_p.L3823L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3823	Ig-like C2-type 37.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAACTACTCTGGCTTGTGA	0.398																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11467-11469)Ctg>Ttg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							152	141	145					1																	186084452		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084452C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11467C>T	1.37:g.186084452C>T						MIR548F1_uc021pgf.1_Intron	p.L3823L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			74	11696	+			3823			Ig-like C2-type 37.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11467C>T	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186084452	C	T	186084452	2	4	55	1	0	0	0	0	0	0	0	1	7220	912	32	3		3	HMCN1	1	186084452	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	35881518	186084452	63166169	3	3445											
SMYD2	56950	broad.mit.edu	37	chr1	214505455	214505455	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatgttgcacatgatgtaCcaggccatgggtgtctgctt	8	13	11	9	0	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:214505455C>A	ENST00000366957.5	+	10	1054	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	344					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACATGATGTACCAGGCCATGG	0.517											OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021pix.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1030-1032)taC>taA		Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.							177	128	145					1																	214505455		2203	4300	6503	SO:0001587	stop_gained	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214505455C>A	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1032C>A	1.37:g.214505455C>A	ENSP00000355924:p.Tyr344*		OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2221	SMYD2_uc009xdl.1_Intron	p.Y344*	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	9	1065	+			344					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Nonsense_Mutation	SNP	ENST00000366957.5	37	c.1032C>A	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040074	0.93630	.	.	ENSG00000143499	ENST00000366957;ENST00000416415	.	.	.	5.96	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-13.1438	11.2434	0.48982	0.0:0.8108:0.0:0.1892	.	.	.	.	X	344;63	.	ENSP00000355924:Y344X	Y	+	3	2	SMYD2	212572078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.881000	0.28173	1.537000	0.49254	0.655000	0.94253	TAC		0.517	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		A	214505455	C	A	214505455	4	1	55	1	0	0	0	0	0	1	0	0	14822	518	18	5	1070	5	SMYD2	1	214505455	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	28421003	214505455	34745166	4	3446											
CCDC88A	55704	broad.mit.edu	37	chr2	55561635	55561635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggatttttttattgctGttctctaaagttttttgcag	6	22	8	5	0	1	0	0	0	1	0	2	1	1	1	0	1	3	5	0	1	3	10			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:55561635G>C	ENST00000436346.1	-	15	3163	c.2322C>G	c.(2320-2322)aaC>aaG	p.N774K	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.N774K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.N774K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.N774K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	774					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTATTGCTGTTCTCTAAAG	0.338																																						uc002ryv.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2320-2322)aaC>aaG		Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.							95	94	95					2																	55561635		2202	4299	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561635G>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2322C>G	2.37:g.55561635G>C	ENSP00000410608:p.Asn774Lys					CCDC88A_uc010ypa.1_Missense_Mutation_p.N774K|CCDC88A_uc010yoz.1_Missense_Mutation_p.N774K|CCDC88A_uc010ypb.1_Missense_Mutation_p.N676K|CCDC88A_uc002ryu.2_Missense_Mutation_p.N57K|CCDC88A_uc002ryw.3_Missense_Mutation_p.N57K	p.N774K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			14	3164	-			774					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2322C>G		.	.	.	.	.	.	.	.	.	.	G	14.23	2.473732	0.43942	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.14266	2.52;2.77;2.72;2.54	5.04	-1.82	0.07857	.	0.000000	0.51477	U	0.000091	T	0.21761	0.0524	L	0.59436	1.845	0.80722	D	1	P;D;P;D;D	0.71674	0.902;0.998;0.949;0.998;0.996	P;D;P;D;D	0.80764	0.778;0.994;0.621;0.971;0.937	T	0.43130	-0.9410	10	0.05620	T	0.96	-16.9525	10.3683	0.44038	0.5449:0.0:0.4551:0.0	.	774;774;774;774;774	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	K	774	ENSP00000338728:N774K;ENSP00000263630:N774K;ENSP00000410608:N774K;ENSP00000404431:N774K	ENSP00000263630:N774K	N	-	3	2	CCDC88A	55415139	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	1.237000	0.32695	-0.134000	0.11516	0.456000	0.33151	AAC		0.338	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		C	55561635	G	C	55561635	3	2	55	1	0	0	0	0	1	0	0	0	2863	1368	48	5	3365	5	CCDC88A	2	55561635	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		55561635	187637738	5	3447											
RMND5A	64795	broad.mit.edu	37	chr2	86992995	86992995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttagacattcaggttttGatgggaagccttgtgtacct	8	17	10	6	0	1	2	1	1	0	1	1	3	1	3	2	2	2	2	2	2	3	8			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:86992995G>A	ENST00000283632.4	+	6	1197	c.702G>A	c.(700-702)ttG>ttA	p.L234L	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	234										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTCAGGTTTTGATGGGAAGCC	0.428																																						uc002srr.2																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.(700-702)ttG>ttA		Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.							125	105	112					2																	86992995		2203	4300	6503	SO:0001819	synonymous_variant	64795							g.chr2:86992995G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.702G>A	2.37:g.86992995G>A						RMND5A_uc002srs.4_Intron	p.L234L	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			5	1079	+			234					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Silent	SNP	ENST00000283632.4	37	c.702G>A	CCDS1991.1																																																																																				0.428	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		A	86992995	G	A	86992995	2	1	55	1	0	0	0	0	0	0	0	1	13397	1281	45	3		3	RMND5A	2	86992995	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	31431360	86992995	156206378	6	3448											
DDX18	8886	broad.mit.edu	37	chr2	118587005	118587005	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcctcaggttgctctGtcatttggtttcaaggtgcc	6	16	10	9	0	4	0	3	0	1	0	4	0	4	0	2	3	3	3	2	3	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:118587005G>T	ENST00000263239.2	+	13	1961	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	611					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGTTGCTCTGTCATTTGGTT	0.403																																						uc002tlh.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1831-1833)ctG>ctT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.							160	153	155					2																	118587005		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118587005G>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1833G>T	2.37:g.118587005G>T							p.L611L	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			12	1932	+			611					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1833G>T	CCDS2120.1																																																																																				0.403	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		T	118587005	G	T	118587005	2	4	55	1	0	0	0	0	0	0	0	1	4345	1364	48	5		5	DDX18	2	118587005	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	31594010	118587005	124612368	7	3449											
TTN	7273	broad.mit.edu	37	chr2	179556814	179556814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctggcacgggtttcttgGgaacctcaggaactttaaag	9	11	11	10	1	3	0	1	0	2	0	3	2	3	2	2	4	2	2	2	4	4	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179556814G>T	ENST00000591111.1	-	119	30964	c.30740C>A	c.(30739-30741)cCc>cAc	p.P10247H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9320H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P10564H|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTTCTTGGGAACCTCAGG	0.433																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27958-27960)cCc>cAc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87	82	84					2																	179556814		1828	4098	5926	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179556814G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30740C>A	2.37:g.179556814G>T	ENSP00000465570:p.Pro10247His					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H	p.P9320H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		117	28184	-			10247			Ig-like 76.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.27959C>A		.	.	.	.	.	.	.	.	.	.	G	17.92	3.505718	0.64410	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.73047	-0.71	5.56	5.56	0.83823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.86920	0.6049	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88699	0.3214	9	0.87932	D	0	.	19.1359	0.93428	0.0:0.0:1.0:0.0	.	10247;10247	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	H	9320;442;74	ENSP00000343764:P9320H	ENSP00000343764:P9320H	P	-	2	0	TTN	179265059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.986000	0.56937	2.624000	0.88883	0.650000	0.86243	CCC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179556814	G	T	179556814	3	4	55	1	0	0	0	0	1	0	0	0	16732	1232	43	5	72806	5	TTN	2	179556814	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	60969809	179556814	63642559	8	3450											
TTN	7273	broad.mit.edu	37	chr2	179569962	179569962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatgcttgaagaagacctCggaagtcagtgattccatac	14	9	9	9	1	1	4	1	2	0	2	3	5	2	5	2	1	2	1	2	1	5	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179569962C>T	ENST00000591111.1	-	101	28816	c.28592G>A	c.(28591-28593)cGa>cAa	p.R9531Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8604Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R9848Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13610					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAAGACCTCGGAAGTCAGT	0.383																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25810-25812)cGa>cAa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							113	109	110					2																	179569962		1882	4110	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569962C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28592G>A	2.37:g.179569962C>T	ENSP00000465570:p.Arg9531Gln					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q	p.R8604Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	26036	-			9531					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25811G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262051	0.80358	.	.	ENSG00000155657	ENST00000342992	D	0.97665	-4.48	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.98513	0.9504	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99222	1.0879	9	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	9531	Q8WZ42	TITIN_HUMAN	Q	8604	ENSP00000343764:R8604Q	ENSP00000343764:R8604Q	R	-	2	0	TTN	179278207	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.757000	0.85209	2.739000	0.93911	0.655000	0.94253	CGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179569962	C	T	179569962	3	4	55	1	0	0	0	0	1	0	0	0	16732	884	31	2	75026	2	TTN	2	179569962	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	13148	179569962	63629411	9	3451											
FGD5	152273	broad.mit.edu	37	chr3	14862435	14862435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgacatcccacctcctttCgacctggcctgcatcaccaa	8	9	6	18	2	1	0	1	0	0	0	5	2	3	0	6	1	1	1	6	1	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:14862435C>T	ENST00000285046.5	+	1	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_ENST00000543601.1_Silent_p.F378F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	619					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1855-1857)ttC>ttT		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							52	53	52					3																	14862435		1960	4128	6088	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862435C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1857C>T	3.37:g.14862435C>T						FGD5_uc011avk.2_Silent_p.F619F	p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1967	+			619					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1857C>T	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		T	14862435	C	T	14862435	2	4	55	1	0	0	0	0	0	0	0	1	5836	883	31	2		2	FGD5	3	14862435	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08		14862435	183159995	10	3452											
GCET2	257144	broad.mit.edu	37	chr3	111842437	111842437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgcctggggtctgtagaAggcatatgtagaagtgaata	12	10	14	5	0	1	3	0	1	1	2	1	3	1	3	1	3	1	4	1	3	7	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:111842437A>G	ENST00000308910.4	-	6	586	c.402T>C	c.(400-402)ccT>ccC	p.P134P	GCSAM_ENST00000484193.1_Silent_p.P136P|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	134					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GGTCTGTAGAAGGCATATGTA	0.483																																						uc021xcl.1																			0		p.S135S(1)		endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						c.(406-408)ccT>ccC		Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							136	137	137					3																	111842437		2203	4300	6503	SO:0001819	synonymous_variant	257144					mitochondrion		g.chr3:111842437A>G	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.402T>C	3.37:g.111842437A>G						C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Silent_p.P134P|GCET2_uc021xcm.1_Silent_p.P119P	p.P136P	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN			5	593	-			134					C9JD17|C9JUG6	Silent	SNP	ENST00000308910.4	37	c.408T>C	CCDS2964.1																																																																																				0.483	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		G	111842437	A	G	111842437	2	3	55	1	0	0	0	0	0	0	0	1	6288	59	3	4		4	GCET2	3	111842437	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	96980002	111842437	86179993	11	3453											
ABCF3	55324	broad.mit.edu	37	chr3	183907351	183907351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgacccctcagacgtggCcctccaccatcctagtcgtc	6	9	8	18	2	1	2	1	1	0	1	5	2	3	2	6	1	0	0	6	1	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:183907351C>A	ENST00000429586.2	+	13	1305	c.1120C>A	c.(1120-1122)Ccc>Acc	p.P374T	ABCF3_ENST00000292808.5_Missense_Mutation_p.P368T|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	374	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGACGTGGCCCTCCACCAT	0.617																																						uc003fmz.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1120-1122)Ccc>Acc		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.							70	61	64					3																	183907351		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183907351C>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1120C>A	3.37:g.183907351C>A	ENSP00000411471:p.Pro374Thr					ABCF3_uc003fna.2_Missense_Mutation_p.P368T|ABCF3_uc003fnb.2_Missense_Mutation_p.P55T	p.P374T	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1253	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		374			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1120C>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612595	0.46631	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92048	-2.96;-2.96	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.135827	0.51477	D	0.000100	D	0.89928	0.6857	L	0.51914	1.62	0.58432	D	0.999995	B;B	0.25312	0.123;0.082	B;B	0.28232	0.087;0.064	D	0.88861	0.3326	10	0.56958	D	0.05	-13.0744	15.7155	0.77663	0.0:1.0:0.0:0.0	.	368;374	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	T	374;368	ENSP00000411471:P374T;ENSP00000292808:P368T	ENSP00000292808:P368T	P	+	1	0	ABCF3	185390045	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.331000	0.65905	2.186000	0.69663	0.563000	0.77884	CCC		0.617	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		A	183907351	C	A	183907351	3	1	55	1	0	0	0	0	1	0	0	0	67	739	26	5	1170	5	ABCF3	3	183907351	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	72064914	183907351	14115079	12	3454											
EVC2	132884	broad.mit.edu	37	chr4	5630350	5630350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaaggccctgcacacGggtctctgatgactggaggt	8	8	14	11	1	2	3	1	2	1	1	3	4	2	4	1	4	1	2	1	4	1	0	rs371876802		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:5630350G>A	ENST00000344408.5	-	12	1875	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	EVC2_ENST00000344938.1_Missense_Mutation_p.R608C|EVC2_ENST00000310917.2_Missense_Mutation_p.R528C	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	608					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCCTGCACACGGGTCTCTGAT	0.507																																						uc003gij.3																			0		p.R608H(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1822-1824)Cgt>Tgt		Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115	106	109		1582,1822	4	1	4		109	0,8600		0,0,4300	no	missense,missense	EVC2	NM_001166136.1,NM_147127.4	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	528/1229,608/1309	5630350	1,13005	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5630350G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1822C>T	4.37:g.5630350G>A	ENSP00000342144:p.Arg608Cys					EVC2_uc003gik.3_Missense_Mutation_p.R528C|EVC2_uc011bwb.2_Missense_Mutation_p.R48C	p.R608C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			11	1876	-			608					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1822C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023859	0.75390	2.27E-4	0.0	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78707	-1.2;-1.2;-1.2	4.89	4.03	0.46877	.	0.241588	0.35555	N	0.003133	D	0.85252	0.5654	M	0.65975	2.015	0.46356	D	0.999006	D	0.89917	1.0	D	0.71414	0.973	D	0.86591	0.1860	10	0.72032	D	0.01	-15.3919	13.1941	0.59728	0.0821:0.0:0.9179:0.0	.	608	Q86UK5	LBN_HUMAN	C	608;528;608	ENSP00000339954:R608C;ENSP00000311683:R528C;ENSP00000342144:R608C	ENSP00000311683:R528C	R	-	1	0	EVC2	5681251	0.981000	0.34729	0.996000	0.52242	0.980000	0.70556	2.654000	0.46699	2.426000	0.82243	0.484000	0.47621	CGT		0.507	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5630350	G	A	5630350	3	1	55	1	0	0	0	0	1	0	0	0	5286	1116	39	2	2148	2	EVC2	4	5630350	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		5630350	185523926	13	3455											
SLC2A9	56606	broad.mit.edu	37	chr4	9889261	9889261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggggacccagggggcGtggtcctgggagagaacagg	9	4	21	7	1	0	1	0	0	0	1	1	4	1	3	2	8	1	1	2	8	2	1	rs369754879		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:9889261G>A	ENST00000264784.3	-	10	1274	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SLC2A9_ENST00000309065.3_Silent_p.H378H|SLC2A9_ENST00000506583.1_Silent_p.H378H	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	407					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCCAGGGGGCGTGGTCCTGGG	0.632													G|||	1	0.000199681	0	0	5008	,	,		18107	0		0	False		,,,				2504	0.001					uc003gmc.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1219-1221)caC>caT		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.		G	,	0,4400		0,0,2200	81	79	80		1134,1221	-10.2	0	4		80	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,	378/512,407/541	9889261	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9889261G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1221C>T	4.37:g.9889261G>A						SLC2A9_uc003gmd.3_Silent_p.H378H	p.H407H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			9	1282	-			407					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1221C>T	CCDS3407.1																																																																																				0.632	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			A	9889261	G	A	9889261	2	1	55	1	0	0	0	0	0	0	0	1	14552	1136	40	1		1	SLC2A9	4	9889261	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	4258911	9889261	181265015	14	3456											
PCDH7	5099	broad.mit.edu	37	chr4	30724267	30724267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttaacatcaaagacgAgaacgacaacgtgccgtcca	14	6	9	12	4	1	2	1	0	0	2	3	4	3	2	3	1	4	0	3	1	4	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:30724267A>G	ENST00000361762.2	+	1	2231	c.1223A>G	c.(1222-1224)gAg>gGg	p.E408G	PCDH7_ENST00000543491.1_Missense_Mutation_p.E408G	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	408	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCAAAGACGAGAACGACAAC	0.642																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1222-1224)gAg>gGg		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							42	45	44					4																	30724267		2202	4300	6502	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724267A>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1223A>G	4.37:g.30724267A>G	ENSP00000355243:p.Glu408Gly					PCDH7_uc011bxx.2_Missense_Mutation_p.E408G|PCDH7_uc021xnd.1_Missense_Mutation_p.E408G|PCDH7_uc021xnc.1_Missense_Mutation_p.E408G	p.E408G	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	2231	+			408			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1223A>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974225	0.53720	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.61040	0.14;0.14	5.24	5.24	0.73138	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.75925	0.3916	M	0.84585	2.705	0.51233	D	0.99991	P;P;P	0.51537	0.946;0.946;0.91	P;P;P	0.59546	0.859;0.859;0.727	T	0.80901	-0.1175	9	0.87932	D	0	.	15.1391	0.72595	1.0:0.0:0.0:0.0	.	408;361;408	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	G	408;408;361	ENSP00000355243:E408G;ENSP00000441802:E408G	ENSP00000330302:E361G	E	+	2	0	PCDH7	30333365	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	6.119000	0.71590	1.985000	0.57927	0.533000	0.62120	GAG		0.642	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		G	30724267	A	G	30724267	3	3	55	1	0	0	0	0	1	0	0	0	11516	304	11	4	1225	4	PCDH7	4	30724267	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	20835006	30724267	160430009	15	3457											
CXCL6	6372	broad.mit.edu	37	chr4	74702791	74702791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttccccgcaggcccgCagtgctccaaggtggaagtg	7	7	15	12	2	0	0	0	0	0	0	2	1	2	1	4	4	1	4	4	4	2	1	rs149811429		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:74702791C>A	ENST00000226317.5	+	2	474	c.220C>A	c.(220-222)Cag>Aag	p.Q74K	CXCL6_ENST00000515050.1_Missense_Mutation_p.Q74K	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	74					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCAGGCCCGCAGTGCTCCAA	0.542																																						uc003hhf.3																			0		p.P73P(1)		large_intestine(1)|lung(7)	8						c.(220-222)Cag>Aag		Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.		C	LYS/GLN	0,4406		0,0,2203	100	132	121		220	3.9	0.6	4	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	CXCL6	NM_002993.3	53	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	74/115	74702791	1,13005	2203	4300	6503	SO:0001583	missense	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702791C>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"Endogenous ligands"	10643	protein-coding gene	gene with protein product	"granulocyte chemotactic protein 2"	138965	"small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)", "chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.220C>A	4.37:g.74702791C>A	ENSP00000226317:p.Gln74Lys						p.Q74K	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	415	+	Breast(15;0.00102)		74					B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	c.220C>A	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311649	0.23821	0.0	1.16E-4	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.04654	3.58;3.58	3.86	3.86	0.44501	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.369424	0.30235	N	0.010085	T	0.09024	0.0223	M	0.85859	2.78	0.23468	N	0.99762	P	0.34934	0.476	B	0.29267	0.1	T	0.13845	-1.0494	10	0.66056	D	0.02	.	11.494	0.50398	0.0:1.0:0.0:0.0	.	74	P80162	CXCL6_HUMAN	K	74	ENSP00000226317:Q74K;ENSP00000424819:Q74K	ENSP00000226317:Q74K	Q	+	1	0	CXCL6	74921655	0.810000	0.29049	0.597000	0.28824	0.130000	0.20726	1.205000	0.32308	2.148000	0.66965	0.585000	0.79938	CAG		0.542	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		A	74702791	C	A	74702791	3	1	55	1	0	0	0	0	1	0	0	0	4088	711	25	5	226	5	CXCL6	4	74702791	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	43978524	74702791	116451485	16	3458											
NPNT	255743	broad.mit.edu	37	chr4	106863540	106863540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccattttaaagggtgaCacaggaaataataattggat	16	11	10	4	0	0	1	0	1	0	0	0	3	0	3	1	4	1	1	1	4	6	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:106863540C>A	ENST00000379987.2	+	8	1056	c.840C>A	c.(838-840)gaC>gaA	p.D280E	NPNT_ENST00000514622.1_Missense_Mutation_p.D280E|NPNT_ENST00000427316.2_Missense_Mutation_p.D310E|NPNT_ENST00000506666.1_Missense_Mutation_p.D310E|NPNT_ENST00000305572.8_Missense_Mutation_p.D280E|NPNT_ENST00000453617.2_Missense_Mutation_p.D297E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	280					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TAAAGGGTGACACAGGAAATA	0.393																																						uc011cfd.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(928-930)gaC>gaA		Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.							94	87	89					4																	106863540		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863540C>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.840C>A	4.37:g.106863540C>A	ENSP00000369323:p.Asp280Glu					NPNT_uc011cfc.2_Missense_Mutation_p.D297E|NPNT_uc011cfe.2_Missense_Mutation_p.D310E|NPNT_uc003hya.3_Missense_Mutation_p.D280E|NPNT_uc011cff.2_Missense_Mutation_p.D280E	p.D310E	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1143	+		Hepatocellular(203;0.217)	280			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.930C>A	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.204714|2.204714	0.38905|0.38905	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.77877|.	-0.73;-1.08;-0.82;-1.13;-0.82;-0.8;0.03|.	4.85|4.85	-1.06|-1.06	0.10002|0.10002	.|.	0.456851|.	0.24843|.	N|.	0.035152|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.08118|0.08118	0|0	0.23156|0.23156	N|N	0.998207|0.998207	P;P;P;P;B;P;P|.	0.36837|.	0.495;0.547;0.547;0.547;0.349;0.571;0.536|.	B;B;B;B;B;B;B|.	0.30855|.	0.053;0.114;0.08;0.08;0.08;0.121;0.08|.	T|T	0.30937|0.30937	-0.9961|-0.9961	10|5	0.20046|.	T|.	0.44|.	.|.	10.1974|10.1974	0.43062|0.43062	0.0:0.3869:0.0:0.6131|0.0:0.3869:0.0:0.6131	.|.	280;310;310;297;327;280;280|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	E|N	280;297;310;280;280;310;327|257	ENSP00000369323:D280E;ENSP00000402884:D297E;ENSP00000389252:D310E;ENSP00000422044:D280E;ENSP00000302557:D280E;ENSP00000422474:D310E;ENSP00000426146:D327E|.	ENSP00000302557:D280E|.	D|H	+|+	3|1	2|0	NPNT|NPNT	107082989|107082989	0.733000|0.733000	0.28132|0.28132	0.995000|0.995000	0.50966|0.50966	0.284000|0.284000	0.27059|0.27059	0.012000|0.012000	0.13287|0.13287	-0.246000|-0.246000	0.09611|0.09611	-1.036000|-1.036000	0.02392|0.02392	GAC|CAC		0.393	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		A	106863540	C	A	106863540	3	1	55	1	0	0	0	0	1	0	0	0	10590	477	17	5	1019	5	NPNT	4	106863540	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	32160749	106863540	84290736	17	3459											
TLL1	7092	broad.mit.edu	37	chr4	166960565	166960565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactatattgaagtaagagaCgggtactggagaaaatcacc	16	8	11	6	1	1	3	1	1	0	2	1	6	1	3	1	2	1	2	1	2	7	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:166960565C>T	ENST00000061240.2	+	10	1880	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	TLL1_ENST00000507499.1_Silent_p.D411D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	411	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAGTAAGAGACGGGTACTGGA	0.388																																						uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1231-1233)gaC>gaT		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							138	130	132					4																	166960565		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166960565C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1233C>T	4.37:g.166960565C>T						TLL1_uc011cjn.2_Silent_p.D411D|TLL1_uc011cjo.2_Silent_p.D235D	p.D411D	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	9	1880	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	411			CUB 1.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1233C>T	CCDS3811.1																																																																																				0.388	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166960565	C	T	166960565	2	4	55	1	0	0	0	0	0	0	0	1	15942	535	19	1		1	TLL1	4	166960565	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	60097025	166960565	24193711	18	3460											
ODZ3	55714	broad.mit.edu	37	chr4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagaacttgatattggcCgaagagcaattcaagagatt	14	9	11	7	2	1	4	1	1	0	3	1	7	1	4	2	2	2	1	2	2	5	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594220C>T	ENST00000511685.1	+	7	1297	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	392					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGATATTGGCCGAAGAGCAAT	0.388																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(1174-1176)Cga>Tga		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							41	39	39					4																	183594220		1808	4079	5887	SO:0001587	stop_gained	55714				signal transduction	integral to membrane		g.chr4:183594220C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1174C>T	4.37:g.183594220C>T	ENSP00000424226:p.Arg392*						p.R392*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	5	1249	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	392					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.1174C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	39	7.743866	0.98465	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0138	0.92886	0.0:1.0:0.0:0.0	.	.	.	.	X	392	.	ENSP00000385276:R392X	R	+	1	2	ODZ3	183831214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.583000	0.60964	2.789000	0.95967	0.650000	0.86243	CGA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183594220	C	T	183594220	4	4	55	1	0	0	0	0	0	1	0	0	10836	644	23	2	1196	2	ODZ3	4	183594220	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	16633655	183594220	7560056	19	3461											
ODZ3	55714	broad.mit.edu	37	chr4	183594343	183594343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgattggagtatatggcCggaaaggcttaccgccttcc	9	11	11	10	2	0	1	0	1	0	0	1	3	1	3	4	4	1	2	4	4	4	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594343C>T	ENST00000511685.1	+	7	1420	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	TENM3_ENST00000406950.2_Missense_Mutation_p.R433W			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	433					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGTATATGGCCGGAAAGGCTT	0.388																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(1297-1299)Cgg>Tgg		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							63	59	60					4																	183594343		1817	4081	5898	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183594343C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1297C>T	4.37:g.183594343C>T	ENSP00000424226:p.Arg433Trp						p.R433W	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	5	1372	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	433					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1297C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323099	0.60634	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.35605	1.3;1.3	4.9	4.05	0.47172	.	.	.	.	.	T	0.58652	0.2137	M	0.82517	2.595	0.54753	D	0.999984	D	0.89917	1.0	D	0.75020	0.985	T	0.62987	-0.6737	9	0.87932	D	0	.	8.7897	0.34843	0.1484:0.7758:0.0:0.0758	.	433	Q9P273	TEN3_HUMAN	W	433	ENSP00000424226:R433W;ENSP00000385276:R433W	ENSP00000385276:R433W	R	+	1	2	ODZ3	183831337	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	2.863000	0.48396	1.413000	0.46997	0.655000	0.94253	CGG		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183594343	C	T	183594343	3	4	55	1	0	0	0	0	1	0	0	0	10836	643	23	2	1319	2	ODZ3	4	183594343	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	123	183594343	7559933	20	3462											
FAT1	2195	broad.mit.edu	37	chr4	187557880	187557880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggccctcatccttgtcGgtggctatgacgtgatagag	6	12	14	9	2	1	3	1	2	0	1	3	3	2	3	2	4	0	1	2	4	2	4	rs553222395		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:187557880G>A	ENST00000441802.2	-	5	4040	c.3831C>T	c.(3829-3831)acC>acT	p.T1277T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1277	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCTTGTCGGTGGCTATGA	0.493										HNSCC(5;0.00058)			G|||	0	0	0	0	5008	,	,		16094	0		0	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3829-3831)acC>acT		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.							214	216	215					4																	187557880		1887	4115	6002	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557880G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3831C>T	4.37:g.187557880G>A		HNSCC(5;0.00058)					p.T1277T	NM_005245	NP_005236	Q14517	FAT1_HUMAN			4	4019	-			1277			Cadherin 11.			Silent	SNP	ENST00000441802.2	37	c.3831C>T	CCDS47177.1																																																																																				0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187557880	G	A	187557880	2	1	55	1	0	0	0	0	0	0	0	1	5689	1103	39	2		2	FAT1	4	187557880	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	3963537	187557880	3596396	21	3463											
TTC37	9652	broad.mit.edu	37	chr5	94856458	94856458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttttctatgtagtctacGgcttttccatcaagataatc	9	17	6	9	1	3	1	1	0	2	1	5	1	4	1	1	1	1	3	1	1	5	8	rs200525903		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:94856458G>A	ENST00000358746.2	-	20	2374	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	692						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTAGTCTACGGCTTTTCCAT	0.299																																						uc003klb.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2074-2076)gcC>gcT		Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.		G		0,4406		0,0,2203	71	74	73		2076	2.7	1	5		73	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	TTC37	NM_014639.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		692/1565	94856458	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	9652						binding	g.chr5:94856458G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2076C>T	5.37:g.94856458G>A							p.A692A	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			19	2373	-			692					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2076C>T	CCDS4072.1																																																																																				0.299	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		A	94856458	G	A	94856458	2	1	55	1	0	0	0	0	0	0	0	1	16702	1103	39	2		2	TTC37	5	94856458	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		94856458	86058802	22	3464											
DMXL1	1657	broad.mit.edu	37	chr5	118503534	118503534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgctctggaaacattaatAaagcaacctatcagagagaa	17	8	9	7	0	2	2	1	0	1	2	2	4	2	3	1	2	4	2	1	2	7	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:118503534A>G	ENST00000311085.8	+	23	5453	c.5373A>G	c.(5371-5373)atA>atG	p.I1791M	DMXL1_ENST00000539542.1_Missense_Mutation_p.I1791M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1791										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAACATTAATAAAGCAACCTA	0.343																																						uc010jcl.1																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(5371-5373)atA>atG		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							55	57	57					5																	118503534		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118503534A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5373A>G	5.37:g.118503534A>G	ENSP00000309690:p.Ile1791Met					DMXL1_uc003ksd.2_Missense_Mutation_p.I1791M|DMXL1_uc021ycw.1_Missense_Mutation_p.I1618M	p.I1791M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	22	5554	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1791						Missense_Mutation	SNP	ENST00000311085.8	37	c.5373A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611090	0.46631	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.51817	0.69;0.69	5.89	4.72	0.59763	.	0.224236	0.48286	D	0.000199	T	0.59636	0.2208	M	0.73217	2.22	0.41541	D	0.98851	D;D	0.61080	0.989;0.984	D;D	0.65233	0.918;0.933	T	0.62895	-0.6757	10	0.87932	D	0	-23.9363	3.6621	0.08242	0.6594:0.1301:0.0704:0.1401	.	1791;1791	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1791	ENSP00000309690:I1791M;ENSP00000439479:I1791M	ENSP00000309690:I1791M	I	+	3	3	DMXL1	118531433	0.999000	0.42202	1.000000	0.80357	0.548000	0.35241	0.530000	0.23036	1.042000	0.40150	-0.399000	0.06403	ATA		0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118503534	A	G	118503534	3	3	55	1	0	0	0	0	1	0	0	0	4594	352	13	4	5463	4	DMXL1	5	118503534	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	23647076	118503534	62411726	23	3465											
ABLIM3	22885	broad.mit.edu	37	chr5	148620291	148620291	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagttagatgtgaggtcCtccactccaacctcttacca	10	10	7	14	0	1	2	0	1	1	1	4	2	4	2	6	1	3	1	6	1	3	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:148620291C>G	ENST00000506113.1	+	13	1739	c.1257C>G	c.(1255-1257)tcC>tcG	p.S419S	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000309868.7_Silent_p.S419S|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000326685.7_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'Flank|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	419					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAGGTCCTCCACTCCAA	0.572																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1255-1257)tcC>tcG		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							127	117	121					5																	148620291		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148620291C>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1257C>G	5.37:g.148620291C>G						ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	p.S419S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1508	+			419					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.1257C>G	CCDS4294.1																																																																																				0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		G	148620291	C	G	148620291	2	3	55	1	0	0	0	0	0	0	0	1	96	668	24	5		5	ABLIM3	5	148620291	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	30116757	148620291	32294969	24	3466											
SLIT3	6586	broad.mit.edu	37	chr5	168112727	168112727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggggtcggaccttggCggaggccagttccacgtagg	5	7	18	11	3	0	0	0	0	0	0	2	2	1	2	4	8	0	2	4	8	1	3	rs200822063		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:168112727C>T	ENST00000519560.1	-	31	3939	c.3520G>A	c.(3520-3522)Gcc>Acc	p.A1174T	SLIT3_ENST00000404867.3_Missense_Mutation_p.A1174T|SLIT3_ENST00000332966.8_Missense_Mutation_p.A1181T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1174	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.A1174T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGACCTTGGCGGAGGCCAGT	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		18331	0		0	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			1	Substitution - Missense(1)	p.A1174T(1)	ovary(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3541-3543)Gcc>Acc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							73	78	76					5																	168112727		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112727C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3520G>A	5.37:g.168112727C>T	ENSP00000430333:p.Ala1174Thr					SLIT3_uc003mab.3_Missense_Mutation_p.A1174T	p.A1181T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3961	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1174			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3541G>A	CCDS4369.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.487	0.861180	0.17178	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.68765	-0.35;-0.35;-0.35	4.76	3.87	0.44632	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.200754	0.53938	D	0.000050	T	0.45074	0.1324	N	0.19112	0.55	0.41357	D	0.987401	B	0.15473	0.013	B	0.14023	0.01	T	0.33214	-0.9877	10	0.14656	T	0.56	.	7.8458	0.29424	0.1612:0.7564:0.0:0.0823	.	1174	O75094	SLIT3_HUMAN	T	1174;1181;1174	ENSP00000430333:A1174T;ENSP00000332164:A1181T;ENSP00000384890:A1174T	ENSP00000332164:A1181T	A	-	1	0	SLIT3	168045305	1.000000	0.71417	0.984000	0.44739	0.925000	0.55904	3.095000	0.50235	2.349000	0.79799	0.561000	0.74099	GCC		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168112727	C	T	168112727	3	4	55	1	0	0	0	0	1	0	0	0	14741	768	27	1	1075	1	SLIT3	5	168112727	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	19492436	168112727	12802533	25	3467											
STK10	6793	broad.mit.edu	37	chr5	171479966	171479966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcttgtcccgccattcCttcaggttctggttatggct	5	14	10	12	2	2	0	1	0	1	0	4	1	4	0	3	3	1	4	3	3	2	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:171479966C>T	ENST00000176763.5	-	18	3076	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	911					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCATTCCTTCAGGTTCT	0.567																																						uc003mbo.1																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2731-2733)aaG>aaA		Homo sapiens serine/threonine kinase 10 (STK10), mRNA.							106	93	98					5																	171479966		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171479966C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2733G>A	5.37:g.171479966C>T							p.K911K	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		17	3033	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	911					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.2733G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	9.943	1.218085	0.22373	.	.	ENSG00000072786	ENST00000520476	.	.	.	4.64	3.77	0.43336	.	.	.	.	.	T	0.56337	0.1978	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52260	-0.8599	4	.	.	.	.	7.3546	0.26711	0.0:0.801:0.0:0.199	.	.	.	.	K	184	.	.	R	-	2	0	STK10	171412571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.659000	0.46741	1.097000	0.41459	0.555000	0.69702	AGG		0.567	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		T	171479966	C	T	171479966	2	4	55	1	0	0	0	0	0	0	0	1	15285	680	24	3		3	STK10	5	171479966	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	3367239	171479966	9435294	26	3468											
LMAN2	10960	broad.mit.edu	37	chr5	176765541	176765541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgatgccgtctccatggagGttcttcttccctgtgccgtg	3	13	12	13	3	3	0	0	0	3	0	5	2	4	1	4	2	2	1	4	2	0	3	rs372993074		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:176765541G>A	ENST00000303127.7	-	3	585	c.381C>T	c.(379-381)aaC>aaT	p.N127N	LMAN2_ENST00000515209.1_Silent_p.N127N|LMAN2_ENST00000506310.1_5'UTR|RN7SL562P_ENST00000582768.1_RNA	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	127	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATGGAGGTTCTTCTTCC	0.632																																						uc003mge.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(379-381)aaC>aaT		Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	290	228	249		381	-4.1	1	5		249	0,8600		0,0,4300	no	coding-synonymous	LMAN2	NM_006816.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		127/357	176765541	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176765541G>A	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.381C>T	5.37:g.176765541G>A							p.N127N	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	618	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	127			L-type lectin-like.		Q53HH1	Silent	SNP	ENST00000303127.7	37	c.381C>T	CCDS4417.1																																																																																				0.632	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		A	176765541	G	A	176765541	2	1	55	1	0	0	0	0	0	0	0	1	8838	1252	44	3		3	LMAN2	5	176765541	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	5285575	176765541	4149719	27	3469											
CANX	821	broad.mit.edu	37	chr5	179132740	179132740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaactgctattgttgagGctcatgatggacatgatgat	10	14	12	5	0	1	4	1	4	0	0	1	6	1	6	0	3	2	3	0	3	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:179132740G>A	ENST00000247461.4	+	2	258	c.58G>A	c.(58-60)Gct>Act	p.A20T	CANX_ENST00000452673.2_Missense_Mutation_p.A20T|CANX_ENST00000512607.2_5'UTR|CANX_ENST00000415618.2_Missense_Mutation_p.A55T|CANX_ENST00000504734.1_Missense_Mutation_p.A20T	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	20					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	tattgttgaggctcatgatgg	0.423																																						uc011dgp.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(163-165)Gct>Act		Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						561	450	488					5																	179132740		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179132740G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.58G>A	5.37:g.179132740G>A	ENSP00000247461:p.Ala20Thr					CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkk.3_Missense_Mutation_p.A20T|CANX_uc003mkl.3_Missense_Mutation_p.A20T|CANX_uc011dgq.2_5'UTR	p.A55T	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	238	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	20					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.163G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943056	0.73672	.	.	ENSG00000127022	ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000507307;ENST00000502673;ENST00000513246;ENST00000354394;ENST00000509563;ENST00000376953	T;T;T;T;D;T	0.83591	0.69;0.66;0.69;0.69;-1.74;0.01	4.57	4.57	0.56435	.	0.225320	0.44483	D	0.000451	T	0.72534	0.3472	L	0.31926	0.97	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.01	B;B;B	0.12156	0.001;0.004;0.007	T	0.65463	-0.6162	10	0.12103	T	0.63	-16.3725	13.0276	0.58825	0.0:0.0:1.0:0.0	.	55;20;20	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	T	20;20;20;55;20;20;20;20;20;20;12;20;20	ENSP00000424063:A20T;ENSP00000394817:A55T;ENSP00000391646:A20T;ENSP00000247461:A20T;ENSP00000425246:A20T;ENSP00000421107:A20T	ENSP00000247461:A20T	A	+	1	0	CANX	179065346	0.999000	0.42202	0.938000	0.37757	0.825000	0.46686	4.180000	0.58296	2.516000	0.84829	0.561000	0.74099	GCT		0.423	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		A	179132740	G	A	179132740	3	1	55	1	0	0	0	0	1	0	0	0	2618	1203	42	3	60	3	CANX	5	179132740	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	2367199	179132740	1782520	28	3470											
ABCF1	23	broad.mit.edu	37	chr6	30552069	30552069	+	Frame_Shift_Del	DEL	G	G	-																															cggcggcttcagggacagctGgaacaaggggatgacacagc																										TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:30552069delG	ENST00000326195.8	+	13	1315	c.1203delG	c.(1201-1203)ctgfs	p.L401fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Del_p.L363fs|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	401	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGGGACAGCTGGAACAAGGGG	0.592																																						uc003nql.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1201-1203)ctgfs		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.							83	72	76					6																	30552069		1510	2708	4218	SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30552069delG	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1203delG	6.37:g.30552069delG	ENSP00000313603:p.Leu401fs					ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.3_Frame_Shift_Del_p.L363fs|MIR877_uc021yud.1_5'Flank	p.L401fs	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			12	1298	+			401			ABC transporter 1.		A2BF75|O14897|Q69YP6	Frame_Shift_Del	DEL	ENST00000326195.8	37	c.1203delG	CCDS34380.1																																																																																				0.592	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			-	30552069	G	-	30552069	7	5	55	1	0	1	0	1	0	0	0	0	65	1335	47	0	1253	0	ABCF1	6	30552069	Frame_Shift_Del	DEL	G	TCGA-06-0648-01A-01W-0323-08		30552069	140562998	29	3471											
LRFN2	57497	broad.mit.edu	37	chr6	40359856	40359856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgacccctcccgccgcCgcagcagcaaagtcccccat	8	3	9	21	4	0	0	0	0	0	0	2	1	2	0	7	1	2	4	7	1	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40359856C>T	ENST00000338305.6	-	3	2738	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	732						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCCGCCGCCGCAGCAGCAA	0.682																																						uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2194-2196)gcG>gcA		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.																																				SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359856C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2196G>A	6.37:g.40359856C>T							p.A732A	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	2661	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		732					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.2196G>A	CCDS34443.1																																																																																				0.682	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40359856	C	T	40359856	2	4	55	1	0	0	0	0	0	0	0	1	8938	639	23	2		2	LRFN2	6	40359856	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	9807787	40359856	130755211	30	3472											
UNC5CL	222643	broad.mit.edu	37	chr6	40996138	40996138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctcgtccagctccaggcCctggttatcccgggcgcccc	3	9	10	19	3	1	0	0	0	1	0	5	0	4	0	6	3	1	2	6	3	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40996138C>T	ENST00000373164.1	-	8	1591	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.G511S			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	511					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTCCAGGCCCTGGTTATCC	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003opi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1531-1533)Ggc>Agc		Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.							10	12	11					6																	40996138		2189	4275	6464	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996138C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1531G>A	6.37:g.40996138C>T	ENSP00000362258:p.Gly511Ser		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897		p.G511S	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			8	1630	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		511					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1531G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455788	0.43634	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13538	2.58;2.58	4.53	3.63	0.41609	.	0.161489	0.29293	N	0.012574	T	0.04003	0.0112	L	0.32530	0.975	0.23563	N	0.997404	B	0.06786	0.001	B	0.04013	0.001	T	0.33059	-0.9883	10	0.62326	D	0.03	-3.5614	10.3376	0.43858	0.0:0.7994:0.2006:0.0	.	511	Q8IV45	UN5CL_HUMAN	S	511	ENSP00000244565:G511S;ENSP00000362258:G511S	ENSP00000244565:G511S	G	-	1	0	UNC5CL	41104116	0.001000	0.12720	0.570000	0.28473	0.688000	0.40055	1.059000	0.30517	0.858000	0.35431	0.563000	0.77884	GGC		0.687	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		T	40996138	C	T	40996138	3	4	55	1	0	0	0	0	1	0	0	0	16991	623	22	3	29	3	UNC5CL	6	40996138	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	636282	40996138	130118929	31	3473											
SMPD2	6610	broad.mit.edu	37	chr6	109764877	109764877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtcctggcggctggAggaggggccggggaagctgc	4	7	21	9	2	0	0	0	0	0	0	1	3	1	3	2	8	2	2	2	8	1	0	rs142982624|rs370460899	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:109764877A>G	ENST00000258052.3	+	10	1400	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	347					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGCGGCTGGAGGAGGGGCCG	0.632																																						uc003pti.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(1039-1041)ggA>ggG		Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.							41	52	48					6																	109764877		2202	4300	6502	SO:0001819	synonymous_variant	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109764877A>G	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.1041A>G	6.37:g.109764877A>G						PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	p.G347G	NM_003080	NP_003071	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	9	1435	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	347					Q5TED1|Q9BWR3	Silent	SNP	ENST00000258052.3	37	c.1041A>G	CCDS5075.1																																																																																				0.632	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			G	109764877	A	G	109764877	2	3	55	1	0	0	0	0	0	0	0	1	14805	291	11	4		4	SMPD2	6	109764877	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	68768739	109764877	61350190	32	3474											
UTRN	7402	broad.mit.edu	37	chr6	144809879	144809879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaccagatgcttcaagTcttgcaagagagcttggggg	11	9	13	8	0	2	3	1	1	1	2	2	4	2	3	1	2	4	3	1	2	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:144809879T>A	ENST00000367545.3	+	29	4043	c.4043T>A	c.(4042-4044)gTc>gAc	p.V1348D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1348	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGCTTCAAGTCTTGCAAGAG	0.483																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4042-4044)gTc>gAc		Homo sapiens utrophin (UTRN), mRNA.							80	78	78					6																	144809879		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144809879T>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4043T>A	6.37:g.144809879T>A	ENSP00000356515:p.Val1348Asp						p.V1348D	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	28	4135	+		Ovarian(120;0.218)	1348			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4043T>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733064	0.69189	.	.	ENSG00000152818	ENST00000367545	T	0.35048	1.33	5.43	5.43	0.79202	.	0.000000	0.45867	D	0.000337	T	0.38719	0.1051	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.10154	-1.0642	10	0.19590	T	0.45	.	15.7693	0.78152	0.0:0.0:0.0:1.0	.	1348	P46939	UTRO_HUMAN	D	1348	ENSP00000356515:V1348D	ENSP00000356515:V1348D	V	+	2	0	UTRN	144851572	0.933000	0.31639	0.914000	0.36105	0.920000	0.55202	1.650000	0.37292	2.180000	0.69256	0.533000	0.62120	GTC		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	144809879	T	A	144809879	3	1	55	1	0	0	0	0	1	0	0	0	17100	1667	58	5	4157	5	UTRN	6	144809879	Missense_Mutation	SNP	T	TCGA-06-0648-01A-01W-0323-08	35045002	144809879	26305188	33	3475											
SLC29A4	222962	broad.mit.edu	37	chr7	5330480	5330480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggacgtggactacctgcAtcacaagtacccaggtgggt	10	7	12	12	2	1	0	1	0	0	0	1	2	1	2	2	4	3	2	2	4	3	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:5330480A>G	ENST00000396872.3	+	3	448	c.287A>G	c.(286-288)cAt>cGt	p.H96R	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96R|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96R			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	96					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GACTACCTGCATCACAAGTAC	0.627																																						uc003sod.3																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(286-288)cAt>cGt		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							88	74	79					7																	5330480		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330480A>G	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.287A>G	7.37:g.5330480A>G	ENSP00000380081:p.His96Arg					SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.H96R|SLC29A4_uc003soe.3_Missense_Mutation_p.H96R	p.H96R	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	2	448	+		Ovarian(82;0.0175)	96					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.287A>G	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774626	0.70107	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;D;T;D;T	0.81659	1.56;-1.52;1.56;-1.52;1.56	4.15	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.62723	1.935	0.58432	D	0.99999	D;D	0.89917	1.0;0.973	D;P	0.83275	0.996;0.654	D	0.84590	0.0666	10	0.31617	T	0.26	-10.3863	11.8321	0.52301	1.0:0.0:0.0:0.0	.	96;96	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	R	96	ENSP00000406803:H96R;ENSP00000380081:H96R;ENSP00000413271:H96R;ENSP00000297195:H96R;ENSP00000385845:H96R	ENSP00000297195:H96R	H	+	2	0	SLC29A4	5297006	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.382000	0.90154	1.526000	0.49068	0.454000	0.30748	CAT		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		G	5330480	A	G	5330480	3	3	55	1	0	0	0	0	1	0	0	0	14537	217	8	4	293	4	SLC29A4	7	5330480	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08		5330480	153808183	34	3476											
STK31	56164	broad.mit.edu	37	chr7	23830449	23830449	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgtttttgcagagtcagCgagcctcggtgaacatgatg	9	13	12	7	2	1	3	1	2	0	1	2	4	1	3	1	1	4	2	1	1	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:23830449C>T	ENST00000355870.3	+	22	2763	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	STK31_ENST00000428484.1_Nonsense_Mutation_p.R859*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonsense_Mutation_p.R859*|STK31_ENST00000433467.2_Nonsense_Mutation_p.R882*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCAGAGTCAGCGAGCCTCGGT	0.378																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2644-2646)Cga>Tga		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							156	148	151					7																	23830449		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23830449C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2644C>T	7.37:g.23830449C>T	ENSP00000348132:p.Arg882*					STK31_uc003swt.4_Nonsense_Mutation_p.R859*|STK31_uc011jze.2_Nonsense_Mutation_p.R882*|STK31_uc010kuq.3_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48*	p.R882*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			21	2711	+			882			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.2644C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	43	10.320362	0.99382	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.38	2.43	0.29744	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3566	14.22	0.65820	0.373:0.627:0.0:0.0	.	.	.	.	X	882;882;859;859	.	ENSP00000346660:R859X	R	+	1	2	STK31	23796974	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.791000	0.47829	0.184000	0.20083	0.557000	0.71058	CGA		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23830449	C	T	23830449	4	4	55	1	0	0	0	0	0	1	0	0	15295	760	27	1	2730	1	STK31	7	23830449	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	18499969	23830449	135308214	35	3477											
EGFR	1956	broad.mit.edu	37	chr7	55233035	55233035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccactgcgtcaagacctgCccggcaggagtcatgggaga	9	5	13	14	2	2	2	2	0	0	2	2	4	2	3	4	3	2	1	4	3	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:55233035C>T	ENST00000275493.2	+	15	1962	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	EGFR_ENST00000342916.3_Silent_p.C595C|EGFR_ENST00000344576.2_Silent_p.C595C|EGFR_ENST00000442591.1_Silent_p.C595C|EGFR_ENST00000455089.1_Silent_p.C550C|EGFR_ENST00000454757.2_Silent_p.C542C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	595					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCAAGACCTGCCCGGCAGGAG	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1783-1785)tgC>tgT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92	80	84					7																	55233035		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233035C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1785C>T	7.37:g.55233035C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Silent_p.C595C|EGFR_uc003tqj.3_Silent_p.C595C|EGFR_uc022adm.1_Silent_p.C595C|EGFR_uc010kzg.2_Silent_p.C550C|EGFR_uc022adn.1_Silent_p.C550C|EGFR_uc011kco.2_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.C595C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2031	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		595					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1785C>T	CCDS5514.1																																																																																				0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233035	C	T	55233035	2	4	55	1	0	0	0	0	0	0	0	1	4967	747	26	3		3	EGFR	7	55233035	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	31402586	55233035	103905628	36	3478											
MCM4	4173	broad.mit.edu	37	chr8	48889249	48889249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctcttccccacaggcaAttactaaagatatgtttgaa	12	14	5	10	0	1	2	0	1	1	1	3	2	2	2	2	1	1	2	2	1	6	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr8:48889249A>G	ENST00000262105.2	+	16	2712	c.2503A>G	c.(2503-2505)Att>Gtt	p.I835V	RNU6-519P_ENST00000410590.1_RNA|MCM4_ENST00000523944.1_Missense_Mutation_p.I835V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	835					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCCACAGGCAATTACTAAAGA	0.423																																						uc003xqk.2																			0		p.A834T(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2503-2505)Att>Gtt		Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.							118	111	113					8																	48889249		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48889249A>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2503A>G	8.37:g.48889249A>G	ENSP00000262105:p.Ile835Val					MCM4_uc003xql.2_Missense_Mutation_p.I835V|MCM4_uc011ldi.2_Missense_Mutation_p.I822V	p.I835V	NM_182746	NP_877423	P33991	MCM4_HUMAN			16	3329	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	835					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2503A>G	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	0.548	-0.850810	0.02651	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276	T;T	0.02579	4.24;4.24	5.95	5.95	0.96441	.	0.093060	0.64402	D	0.000001	T	0.01592	0.0051	N	0.12746	0.255	0.46542	D	0.999098	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.41840	-0.9486	10	0.02654	T	1	-27.1984	6.3605	0.21425	0.8122:0.0:0.1878:0.0	.	835;835	B3KMX0;P33991	.;MCM4_HUMAN	V	835;835;822;795;119	ENSP00000430194:I835V;ENSP00000262105:I835V	ENSP00000262105:I835V	I	+	1	0	MCM4	49051802	1.000000	0.71417	0.984000	0.44739	0.306000	0.27790	2.661000	0.46758	2.279000	0.76181	0.533000	0.62120	ATT		0.423	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		G	48889249	A	G	48889249	3	3	55	1	0	0	0	0	1	0	0	0	9389	101	4	4	2565	4	MCM4	8	48889249	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08		48889249	97474773	37	3479											
TTC39B	158219	broad.mit.edu	37	chr9	15185345	15185345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgccgagccttcctcacaGcaaacttctcagtagggata	12	8	8	13	2	2	0	2	0	1	0	4	2	3	1	3	1	4	2	3	1	4	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:15185345G>A	ENST00000512701.2	-	16	1583	c.1547C>T	c.(1546-1548)gCt>gTt	p.A516V	TTC39B_ENST00000380850.4_Missense_Mutation_p.A503V|TTC39B_ENST00000297615.5_Missense_Mutation_p.A447V|TTC39B_ENST00000507993.1_Missense_Mutation_p.A351V|TTC39B_ENST00000507285.1_Missense_Mutation_p.A351V|TTC39B_ENST00000355694.2_Missense_Mutation_p.A450V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	516										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTCCTCACAGCAAACTTCTC	0.507																																						uc003zlr.2																			0		p.D516Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1546-1548)gCt>gTt		Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.							106	102	103					9																	15185345		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15185345G>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1547C>T	9.37:g.15185345G>A	ENSP00000422496:p.Ala516Val					TTC39B_uc003zlq.2_Missense_Mutation_p.A419V|TTC39B_uc011lmp.2_Missense_Mutation_p.A351V|TTC39B_uc010mie.2_Missense_Mutation_p.A514V|TTC39B_uc011lmr.2_Missense_Mutation_p.A447V|TTC39B_uc011lmq.2_Missense_Mutation_p.A503V|TTC39B_uc003zlp.2_Missense_Mutation_p.A33V	p.A516V	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN			15	1584	-			450					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1547C>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995905	0.74703	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.85	5.85	0.93711	.	0.111112	0.64402	D	0.000013	T	0.52581	0.1743	L	0.38733	1.17	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.526;0.526;1.0	D;D;P;P;D	0.97110	1.0;1.0;0.557;0.557;0.998	T	0.32955	-0.9887	10	0.02654	T	1	-11.4383	20.1588	0.98128	0.0:0.0:1.0:0.0	.	447;503;448;450;33	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	V	503;447;450;516;351;351	ENSP00000370231:A503V;ENSP00000297615:A447V;ENSP00000347920:A450V;ENSP00000422496:A516V;ENSP00000426539:A351V;ENSP00000423392:A351V	ENSP00000297615:A447V	A	-	2	0	TTC39B	15175345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.770000	0.95276	0.563000	0.77884	GCT		0.507	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		A	15185345	G	A	15185345	3	1	55	1	0	0	0	0	1	0	0	0	16705	971	34	3	521	3	TTC39B	9	15185345	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		15185345	126028086	38	3480											
C9orf125	84302	broad.mit.edu	37	chr9	104238682	104238682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatgtggctcagagaaGcgagcccgcagaaggtgctc	10	6	15	10	2	1	3	1	1	0	3	2	6	1	3	1	2	3	3	1	2	2	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:104238682G>A	ENST00000374851.1	-	4	1840	c.693C>T	c.(691-693)cgC>cgT	p.R231R	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.R231R|TMEM246_ENST00000374847.1_Silent_p.R231R|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	231						integral component of membrane (GO:0016021)											GCTCAGAGAAGCGAGCCCGCA	0.542																																						uc004bbm.3																			0											c.(691-693)cgC>cgT		Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.							77	73	74					9																	104238682		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238682G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.693C>T	9.37:g.104238682G>A						AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.R231R	p.R231R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			1	1015	-			231					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.693C>T	CCDS6757.1																																																																																				0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		A	104238682	G	A	104238682	2	1	55	1	0	0	0	0	0	0	0	1	2454	958	34	3		3	C9orf125	9	104238682	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	89053337	104238682	36974749	39	3481											
SMC2	10592	broad.mit.edu	37	chr9	106885401	106885401	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtaaggtatcgccaactAaaacagcagtgggagatgaa	15	9	11	6	1	0	2	0	1	0	1	1	3	0	2	1	2	3	3	1	2	6	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:106885401A>G	ENST00000286398.7	+	17	2433	c.2145A>G	c.(2143-2145)ctA>ctG	p.L715L	SMC2_ENST00000374787.3_Silent_p.L715L|SMC2_ENST00000374793.3_Silent_p.L715L|SMC2_ENST00000303219.8_Silent_p.L715L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	715					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCGCCAACTAAAACAGCAGT	0.348																																						uc004bbv.3																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2143-2145)ctA>ctG		Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.							67	62	64					9																	106885401		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106885401A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2145A>G	9.37:g.106885401A>G						SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.3_Silent_p.L715L|SMC2_uc011lvl.2_Silent_p.L715L|SMC2_uc004bbx.3_Silent_p.L715L	p.L715L	NM_001042551	NP_006435	O95347	SMC2_HUMAN			16	2433	+			715					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.2145A>G	CCDS35086.1																																																																																				0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			G	106885401	A	G	106885401	2	3	55	1	0	0	0	0	0	0	0	1	14783	349	13	4		4	SMC2	9	106885401	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	2646719	106885401	34328030	40	3482											
COL27A1	85301	broad.mit.edu	37	chr9	117071558	117071558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgagtttgccatcagcCgggtccagatgaatttcctg	8	11	12	10	2	1	2	1	1	0	1	4	3	3	2	4	2	2	1	4	2	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117071558C>T	ENST00000356083.3	+	60	5627	c.5236C>T	c.(5236-5238)Cgg>Tgg	p.R1746W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1746	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCCATCAGCCGGGTCCAGAT	0.607																																						uc011lxl.2																			0		p.R1746L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5236-5238)Cgg>Tgg		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							140	145	143					9																	117071558		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071558C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5236C>T	9.37:g.117071558C>T	ENSP00000348385:p.Arg1746Trp					COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.R61W	p.R1746W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			59	5236	+			1746			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5236C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441536	0.63067	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.73789	-0.78	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.83004	0.5160	M	0.61703	1.905	0.50039	D	0.999844	D;D	0.89917	0.999;1.0	D;D	0.80764	0.967;0.994	D	0.83547	0.0099	9	0.72032	D	0.01	.	11.8241	0.52256	0.1745:0.8255:0.0:0.0	.	61;1746	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	W	1746;1753	ENSP00000348385:R1746W	ENSP00000348385:R1746W	R	+	1	2	COL27A1	116111379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.007000	0.49536	2.882000	0.98803	0.655000	0.94253	CGG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117071558	C	T	117071558	3	4	55	1	0	0	0	0	1	0	0	0	3685	643	23	2	5474	2	COL27A1	9	117071558	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	10186157	117071558	24141873	41	3483											
ATP6V1G1	9550	broad.mit.edu	37	chr9	117359986	117359986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgtctgtgacattcGgccagaaatccatgaaaact	11	12	9	9	1	1	3	0	2	1	1	3	3	2	3	2	2	1	1	2	2	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117359986G>A	ENST00000374050.3	+	3	413	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	107					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						TGTGACATTCGGCCAGAAATC	0.478																																						uc004bjc.3																			0		p.R107R(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(319-321)cGg>cAg		Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 (ATP6V1G1), mRNA.							93	84	87					9																	117359986		2203	4300	6503	SO:0001583	missense	9550				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	g.chr9:117359986G>A	AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"ATPases / V-type"	864	protein-coding gene	gene with protein product		607296	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.320G>A	9.37:g.117359986G>A	ENSP00000363162:p.Arg107Gln						p.R107Q	NM_004888	NP_004879	O75348	VATG1_HUMAN			2	445	+			107					Q6IB33	Missense_Mutation	SNP	ENST00000374050.3	37	c.320G>A	CCDS6807.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271615	0.59649	.	.	ENSG00000136888	ENST00000374050	T	0.40756	1.02	6.17	1.88	0.25563	.	0.390390	0.29916	N	0.010872	T	0.19927	0.0479	N	0.11560	0.145	0.35984	D	0.836192	B	0.11235	0.004	B	0.08055	0.003	T	0.08106	-1.0738	10	0.31617	T	0.26	.	6.4515	0.21906	0.617:0.0:0.383:0.0	.	107	O75348	VATG1_HUMAN	Q	107	ENSP00000363162:R107Q	ENSP00000363162:R107Q	R	+	2	0	ATP6V1G1	116399807	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.003000	0.57061	0.492000	0.27815	0.655000	0.94253	CGG		0.478	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1	NM_004888		A	117359986	G	A	117359986	3	1	55	1	0	0	0	0	1	0	0	0	1186	1116	39	2	330	2	ATP6V1G1	9	117359986	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	288428	117359986	23853445	42	3484											
NELF	26012	broad.mit.edu	37	chr9	140351900	140351900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctctccagcttcttgCggcgaccggaggtctcaggc	6	9	11	15	3	3	0	1	0	3	0	6	2	4	1	3	4	2	1	3	4	0	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:140351900C>T	ENST00000371475.3	-	3	818	c.587G>A	c.(586-588)cGc>cAc	p.R196H	NSMF_ENST00000371468.1_5'Flank|NSMF_ENST00000371472.2_Missense_Mutation_p.R196H|PNPLA7_ENST00000492278.1_5'Flank|NSMF_ENST00000371474.3_Missense_Mutation_p.R196H|NSMF_ENST00000437259.1_Missense_Mutation_p.R196H|NSMF_ENST00000371482.1_5'Flank|NSMF_ENST00000392812.4_Missense_Mutation_p.R196H|NSMF_ENST00000371473.3_Missense_Mutation_p.R196H|NSMF_ENST00000541195.1_5'Flank|NSMF_ENST00000339554.3_5'UTR|NSMF_ENST00000265663.7_Missense_Mutation_p.R196H	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	196	Necessary and sufficient to elicit dendritic processes and synaptic contacts. {ECO:0000250}.		R -> H (in HH9; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in FGFR1). {ECO:0000269|PubMed:23643382}.		cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										CAGCTTCTTGCGGCGACCGGA	0.652																																						uc004cna.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10						c.(586-588)cGc>cAc		Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.							70	40	50					9																	140351900		2200	4288	6488	SO:0001583	missense	26012					nucleus|plasma membrane		g.chr9:140351900C>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.587G>A	9.37:g.140351900C>T	ENSP00000360530:p.Arg196His					NELF_uc011mex.2_5'Flank|NELF_uc010nci.3_5'Flank|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.R196H|NELF_uc004cmz.3_Missense_Mutation_p.R196H|NELF_uc011mez.2_Missense_Mutation_p.R196H|NELF_uc004cnc.3_Missense_Mutation_p.R196H|NELF_uc022bqi.1_Missense_Mutation_p.R196H	p.R196H	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)	2	819	-	all_cancers(76;0.0926)		196					Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.587G>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103040	0.37145	.	.	ENSG00000165802	ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472	T;T;T;T;T;T;T	0.47869	0.84;0.84;0.83;0.83;0.83;0.85;0.84	4.41	1.39	0.22231	.	0.447120	0.20443	N	0.092257	T	0.25382	0.0617	N	0.17082	0.46	0.80722	D	1	B;B;B;B;B	0.14012	0.009;0.009;0.009;0.007;0.007	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.004;0.004	T	0.05022	-1.0911	10	0.19590	T	0.45	-8.1039	6.0132	0.19588	0.0:0.6648:0.1562:0.1789	.	196;196;196;196;196	Q6X4W1-3;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;NELF_HUMAN;.	H	196	ENSP00000360530:R196H;ENSP00000265663:R196H;ENSP00000412007:R196H;ENSP00000376559:R196H;ENSP00000360529:R196H;ENSP00000360528:R196H;ENSP00000360527:R196H	ENSP00000265663:R196H	R	-	2	0	NELF	139471721	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	1.487000	0.35540	-0.012000	0.14223	0.555000	0.69702	CGC		0.652	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		T	140351900	C	T	140351900	3	4	55	1	0	0	0	0	1	0	0	0	10332	768	27	1	1071	1	NELF	9	140351900	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	22991914	140351900	861531	43	3485											
SLC39A12	221074	broad.mit.edu	37	chr10	18270258	18270258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagacctgcttctctgctagGcagctggtggagatatttct	7	13	11	10	0	2	2	0	0	2	2	3	3	2	2	1	3	3	4	1	3	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:18270258G>A	ENST00000377369.2	+	6	1215	c.942G>A	c.(940-942)agG>agA	p.R314R	SLC39A12_ENST00000539911.1_Silent_p.R180R|SLC39A12_ENST00000377374.4_Silent_p.R314R|SLC39A12_ENST00000377371.3_Silent_p.R314R	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	314					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTCTGCTAGGCAGCTGGTGG	0.448																																						uc001ipo.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(940-942)agG>agA		Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.							90	89	89					10																	18270258		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270258G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.942G>A	10.37:g.18270258G>A						SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R	p.R314R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			5	1215	+			314					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.942G>A	CCDS44362.1																																																																																				0.448	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		A	18270258	G	A	18270258	2	1	55	1	0	0	0	0	0	0	0	1	14615	1194	42	3		3	SLC39A12	10	18270258	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		18270258	117264489	44	3486											
FAM196A	642938	broad.mit.edu	37	chr10	128973691	128973691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcggggtgtgagtctgCgacggctgctcactacattc	5	9	14	13	4	2	1	1	1	1	0	3	2	2	1	1	4	3	2	1	4	1	2	rs139302074	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:128973691C>T	ENST00000522781.1	-	4	1524	c.969G>A	c.(967-969)tcG>tcA	p.S323S	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.S323S	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													C|||	3	0.000599042	0.0023	0	5008	,	,		16306	0		0	False		,,,				2504	0					uc001lju.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(967-969)tcG>tcA		Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.		C	,	5,4401	8.1+/-20.4	0,5,2198	73	77	76		969,	-0.7	0	10	dbSNP_134	76	0,8598		0,0,4299	no	coding-synonymous,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	323/480,	128973691	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973691C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.969G>A	10.37:g.128973691C>T						DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.S323S|FAM196A_uc001ljv.1_Silent_p.S323S|FAM196A_uc009yap.1_Silent_p.S323S	p.S323S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			0	1010	-			323					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.969G>A	CCDS31312.1																																																																																				0.642	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		T	128973691	C	T	128973691	2	4	55	1	0	0	0	0	0	0	0	1	5528	755	27	1		1	FAM196A	10	128973691	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	110703433	128973691	6561056	45	3487											
MRPL23	6150	broad.mit.edu	37	chr11	1973439	1973439	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggacacgggtgcagcatGgtgagtgcccatgggaggtt	7	8	18	8	2	0	1	0	1	0	0	0	3	0	3	1	5	4	3	1	5	0	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:1973439G>C	ENST00000397298.3	+	3	308	c.223G>C	c.(223-225)Ggc>Cgc	p.G75R	MRPL23_ENST00000381514.3_Splice_Site_p.G75R|MRPL23_ENST00000381519.1_Splice_Site_p.G75R|MRPL23_ENST00000397294.3_Splice_Site_p.G75R|MRPL23_ENST00000397297.3_Splice_Site_p.G75R	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	75					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGTGCAGCATGGTGAGTGCCC	0.602																																						uc001lux.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.e3+1		Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.							66	55	59					11																	1973439		2199	4299	6498	SO:0001630	splice_region_variant	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1973439G>C	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.223+1G>C	11.37:g.1973439G>C							p.G75_splice	NM_021134	NP_066957	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	314	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	75					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.223_splice	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999719	0.54147	.	.	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.52754	1.73;1.73;0.65;1.73;0.65	3.87	3.87	0.44632	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.065024	0.64402	U	0.000009	T	0.76069	0.3936	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83816	0.0244	10	0.62326	D	0.03	.	16.3905	0.83533	0.0:0.0:1.0:0.0	.	75	Q16540	RM23_HUMAN	R	75	ENSP00000380466:G75R;ENSP00000370930:G75R;ENSP00000380465:G75R;ENSP00000370925:G75R;ENSP00000380462:G75R	ENSP00000370925:G75R	G	+	1	0	MRPL23	1930015	1.000000	0.71417	0.945000	0.38365	0.011000	0.07611	5.434000	0.66526	2.173000	0.68751	0.491000	0.48974	GGC		0.602	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134	Missense_Mutation	C	1973439	G	C	1973439	5	2	55	1	0	0	0	0	0	0	1	0	9789	1362	47	5	233	5	MRPL23	11	1973439	Splice_Site	SNP	G	TCGA-06-0648-01A-01W-0323-08		1973439	133033077	46	3488											
ANO5	203859	broad.mit.edu	37	chr11	22239813	22239813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaaagcgattcaatttgTtcctgaggcggcggcttatg	8	12	12	9	3	1	1	1	1	0	0	2	2	2	1	1	3	2	3	1	3	3	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:22239813T>G	ENST00000324559.8	+	4	477	c.160T>G	c.(160-162)Ttc>Gtc	p.F54V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	54					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCAATTTGTTCCTGAGGCG	0.403																																						uc001mqi.2																			0		p.L53F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(160-162)Ttc>Gtc		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							134	125	128					11																	22239813		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22239813T>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.160T>G	11.37:g.22239813T>G	ENSP00000315371:p.Phe54Val					ANO5_uc001mqj.2_Missense_Mutation_p.F53V	p.F54V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			3	477	+			54						Missense_Mutation	SNP	ENST00000324559.8	37	c.160T>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072340	0.55646	.	.	ENSG00000171714	ENST00000324559	T	0.70986	-0.53	5.87	5.87	0.94306	.	0.188639	0.48286	D	0.000187	T	0.79411	0.4441	L	0.54323	1.7	0.42398	D	0.992557	D	0.76494	0.999	D	0.78314	0.991	T	0.74760	-0.3556	10	0.12430	T	0.62	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	54	Q75V66	ANO5_HUMAN	V	54	ENSP00000315371:F54V	ENSP00000315371:F54V	F	+	1	0	ANO5	22196389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.195000	0.65131	2.244000	0.73946	0.533000	0.62120	TTC		0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		G	22239813	T	G	22239813	3	3	55	1	0	0	0	0	1	0	0	0	700	1725	60	5	174	5	ANO5	11	22239813	Missense_Mutation	SNP	T	TCGA-06-0648-01A-01W-0323-08	20266374	22239813	112766703	47	3489											
OR5D16	390144	broad.mit.edu	37	chr11	55606889	55606889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcattctgacatcttatgCattcatcattgtcaccacct	10	15	3	13	0	6	1	4	1	2	0	6	1	6	1	2	0	1	1	2	0	1	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606889C>A	ENST00000378396.1	+	1	662	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACATCTTATGCATTCATCATT	0.468																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(661-663)gCa>gAa		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							204	167	179					11																	55606889		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606889C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.662C>A	11.37:g.55606889C>A	ENSP00000367649:p.Ala221Glu						p.A221E	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	662	+		all_epithelial(135;0.208)	221					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.662C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.943313	0.53079	.	.	ENSG00000205029	ENST00000378396	T	0.00193	8.58	4.47	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.89715	3.055	0.09310	N	1	P	0.41929	0.765	P	0.57911	0.829	T	0.37753	-0.9692	9	0.66056	D	0.02	0.0276	2.8968	0.05693	0.1328:0.0777:0.2757:0.5138	.	221	Q8NGK9	OR5DG_HUMAN	E	221	ENSP00000367649:A221E	ENSP00000367649:A221E	A	+	2	0	OR5D16	55363465	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-0.914000	0.04038	-0.417000	0.07461	-0.463000	0.05309	GCA		0.468	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606889	C	A	55606889	3	1	55	1	0	0	0	0	1	0	0	0	11156	710	25	5	664	5	OR5D16	11	55606889	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	33367076	55606889	79399627	48	3490											
OR5D16	390144	broad.mit.edu	37	chr11	55606937	55606937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttcagccagtgggcaccGcaaagtcttctccacctgtg	7	9	10	15	1	3	0	1	0	2	0	4	0	3	0	5	1	1	2	5	1	1	2	rs148616685		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606937G>A	ENST00000378396.1	+	1	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AGTGGGCACCGCAAAGTCTTC	0.488													-|||	1	0.000199681	0	0.0014	5008	,	,		18198	0		0	False		,,,				2504	0					uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(709-711)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.		G	HIS/ARG	0,4402		0,0,2201	157	132	141		710	-1.2	0	11	dbSNP_134	141	1,8591		0,1,4295	no	missense	OR5D16	NM_001005496.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	237/329	55606937	1,12993	2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606937G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.710G>A	11.37:g.55606937G>A	ENSP00000367649:p.Arg237His						p.R237H	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	710	+		all_epithelial(135;0.208)	237					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.710G>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	0.243	-1.011894	0.02095	0.0	1.16E-4	ENSG00000205029	ENST00000378396	T	0.00034	8.87	4.0	-1.2	0.09554	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11892	0.195	0.09310	N	1	B	0.25235	0.121	B	0.29440	0.102	T	0.01298	-1.1392	9	0.10636	T	0.68	-0.4145	4.9223	0.13876	0.4668:0.0:0.3947:0.1386	.	237	Q8NGK9	OR5DG_HUMAN	H	237	ENSP00000367649:R237H	ENSP00000367649:R237H	R	+	2	0	OR5D16	55363513	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-2.847000	0.00734	-0.526000	0.06383	-0.430000	0.05897	CGC		0.488	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606937	G	A	55606937	3	1	55	1	0	0	0	0	1	0	0	0	11156	1087	38	1	712	1	OR5D16	11	55606937	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	48	55606937	79399579	49	3491											
OR5M3	219482	broad.mit.edu	37	chr11	56237927	56237927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccattctcgacggctcGttagccccaaaagaatgaac	11	9	8	13	3	1	2	0	1	1	1	3	3	1	2	3	1	3	2	3	1	5	3	rs147367874	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:56237927G>A	ENST00000312240.2	-	1	87	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGACGGCTCGTTAGCCCCAA	0.383													G|||	19	0.00379393	0.0136	0	5008	,	,		17226	0		0.001	False		,,,				2504	0					uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(46-48)aCg>aTg		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.		G	MET/THR	64,4338	59.9+/-96.7	1,62,2138	70	62	64		47	5	0.2	11	dbSNP_134	64	4,8586	3.7+/-12.6	0,4,4291	yes	missense	OR5M3	NM_001004742.2	81	1,66,6429	AA,AG,GG		0.0466,1.4539,0.5234	probably-damaging	16/308	56237927	68,12924	2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237927G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.47C>T	11.37:g.56237927G>A	ENSP00000312208:p.Thr16Met					OR8U8_uc001nit.2_Intron	p.T16M	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			0	88	-	Esophageal squamous(21;0.00448)		16					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.47C>T	CCDS31532.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	0	0.0	1	0.0013192612137203166	G	11.30	1.599435	0.28534	0.014539	4.66E-4	ENSG00000174937	ENST00000312240	T	0.00441	7.41	5.0	5.0	0.66597	.	0.000000	0.42821	D	0.000647	T	0.00998	0.0033	M	0.85710	2.77	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.23797	-1.0178	10	0.87932	D	0	-16.6775	15.7991	0.78436	0.0:0.0:1.0:0.0	.	16	Q8NGP4	OR5M3_HUMAN	M	16	ENSP00000312208:T16M	ENSP00000312208:T16M	T	-	2	0	OR5M3	55994503	0.011000	0.17503	0.166000	0.22797	0.070000	0.16714	1.577000	0.36515	2.313000	0.78055	0.478000	0.44815	ACG		0.383	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237927	G	A	56237927	3	1	55	1	0	0	0	0	1	0	0	0	11175	1145	40	1	878	1	OR5M3	11	56237927	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	630990	56237927	78768589	50	3492											
ANO1	55107	broad.mit.edu	37	chr11	69949227	69949227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccctggaacgtgctgtGcagagaggccgagtttctga	7	9	14	11	2	1	2	0	1	1	1	1	5	1	3	3	2	4	3	3	2	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:69949227G>A	ENST00000355303.5	+	3	802	c.497G>A	c.(496-498)tGc>tAc	p.C166Y	ANO1_ENST00000538023.1_Missense_Mutation_p.C166Y|ANO1_ENST00000530676.1_Missense_Mutation_p.C50Y|ANO1_ENST00000398543.2_Missense_Mutation_p.C50Y|ANO1_ENST00000316296.5_Missense_Mutation_p.C138Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	166					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AACGTGCTGTGCAGAGAGGCC	0.532																																						uc001opj.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(496-498)tGc>tAc		Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.							84	90	88					11																	69949227		2026	4164	6190	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69949227G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.497G>A	11.37:g.69949227G>A	ENSP00000347454:p.Cys166Tyr					ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.C138Y	p.C166Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			2	802	+			166					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.497G>A	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.845561|3.845561	0.71603|0.71603	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000316296;ENST00000530676	.|T;T;T;T;T	.|0.68025	.|-0.3;-0.3;-0.3;-0.3;-0.3	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79293|0.79293	0.4421|0.4421	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.995	.|D;P	.|0.85130	.|0.997;0.862	T|T	0.78244|0.78244	-0.2279|-0.2279	5|9	.|.	.|.	.|.	.|.	17.617|17.617	0.88070|0.88070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|138;166	.|Q5XXA6-3;Q5XXA6	.|.;ANO1_HUMAN	T|Y	9|166;166;50;138;50	.|ENSP00000347454:C166Y;ENSP00000444689:C166Y;ENSP00000381551:C50Y;ENSP00000319477:C138Y;ENSP00000435797:C50Y	.|.	A|C	+|+	1|2	0|0	ANO1|ANO1	69626875|69626875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.543000|0.543000	0.35085|0.35085	8.978000|8.978000	0.93450|0.93450	2.405000|2.405000	0.81733|0.81733	0.555000|0.555000	0.69702|0.69702	GCA|TGC		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		A	69949227	G	A	69949227	3	1	55	1	0	0	0	0	1	0	0	0	695	1319	46	3	507	3	ANO1	11	69949227	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	13711300	69949227	65057289	51	3493											
PAAF1	80227	broad.mit.edu	37	chr11	73627614	73627614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctttattggctcagacGctttcaactgctgtactttt	6	18	6	11	1	3	1	2	0	1	1	4	1	4	1	1	1	3	4	1	1	3	7			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:73627614G>A	ENST00000310571.3	+	9	897	c.844G>A	c.(844-846)Gct>Act	p.A282T	PAAF1_ENST00000535604.1_Missense_Mutation_p.A167T|PAAF1_ENST00000536003.1_Missense_Mutation_p.A265T|PAAF1_ENST00000376384.5_Missense_Mutation_p.A265T|PAAF1_ENST00000541951.1_Missense_Mutation_p.A167T|PAAF1_ENST00000544552.1_Missense_Mutation_p.A265T|PAAF1_ENST00000544909.1_Missense_Mutation_p.A283T	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	282					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGCTCAGACGCTTTCAACTG	0.423																																						uc001ouk.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(844-846)Gct>Act		Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.							162	145	150					11																	73627614		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73627614G>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.844G>A	11.37:g.73627614G>A	ENSP00000311665:p.Ala282Thr					PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc001oum.1_Missense_Mutation_p.A265T	p.A282T	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			8	878	+	Breast(11;7.42e-05)		282					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.844G>A	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865233	0.91511	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.077382	0.53938	D	0.000046	T	0.64962	0.2646	M	0.78049	2.395	0.34980	D	0.753999	D;D	0.89917	0.997;1.0	P;D	0.66602	0.839;0.945	T	0.73471	-0.3972	10	0.44086	T	0.13	-7.3136	17.7649	0.88475	0.0:0.0:1.0:0.0	.	265;282	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	T	167;282;167;265;265;146;265;283	ENSP00000441333:A167T;ENSP00000311665:A282T;ENSP00000438789:A167T;ENSP00000438124:A265T;ENSP00000441494:A265T;ENSP00000439877:A146T;ENSP00000365564:A265T;ENSP00000438071:A283T	ENSP00000311665:A282T	A	+	1	0	PAAF1	73305262	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.364000	0.73086	2.536000	0.85505	0.655000	0.94253	GCT		0.423	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		A	73627614	G	A	73627614	3	1	55	1	0	0	0	0	1	0	0	0	11362	1087	38	1	878	1	PAAF1	11	73627614	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	3678387	73627614	61378902	52	3494											
XRRA1	143570	broad.mit.edu	37	chr11	74559419	74559419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctctggctctagcAtatcctttgagggagacttg	6	13	11	11	0	3	2	0	1	3	1	4	3	4	2	2	2	2	3	2	2	2	4	rs376387401	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:74559419A>G	ENST00000340360.6	-	15	1776	c.1445T>C	c.(1444-1446)aTg>aCg	p.M482T	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.M207T|XRRA1_ENST00000527087.1_Missense_Mutation_p.M395T	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGCTCTAGCATATCCTTTGA	0.552													A|||	4	0.000798722	0.003	0	5008	,	,		20487	0		0	False		,,,				2504	0					uc009yub.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1444-1446)aTg>aCg		Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.		A	THR/MET	8,4190		0,8,2091	54	60	58		1445	-1.3	0	11		58	0,8380		0,0,4190	yes	missense	XRRA1	NM_182969.1	81	0,8,6281	GG,GA,AA		0.0,0.1906,0.0636	benign	482/793	74559419	8,12570	2099	4190	6289	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559419A>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1445T>C	11.37:g.74559419A>G	ENSP00000339918:p.Met482Thr					XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.M105T|XRRA1_uc001ovo.3_Missense_Mutation_p.M90T|XRRA1_uc001ovp.4_Missense_Mutation_p.M207T|XRRA1_uc001ovq.4_Missense_Mutation_p.M395T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T	p.M482T	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			14	1777	-			482						Missense_Mutation	SNP	ENST00000340360.6	37	c.1445T>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.549275	0.27652	0.001906	0.0	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.50813	0.73;1.49;0.74	3.82	-1.3	0.09259	.	0.827873	0.10584	N	0.657638	T	0.37517	0.1006	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B;B	0.22746	0.001;0.074;0.005;0.005;0.005;0.005;0.005	B;B;B;B;B;B;B	0.19666	0.001;0.026;0.008;0.02;0.004;0.004;0.004	T	0.38436	-0.9661	10	0.56958	D	0.05	2.2308	3.0876	0.06283	0.482:0.0:0.3294:0.1886	.	482;84;38;395;426;92;468	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	T	482;207;468;426;395	ENSP00000339918:M482T;ENSP00000319303:M207T;ENSP00000435838:M395T	ENSP00000319303:M207T	M	-	2	0	XRRA1	74237067	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	0.172000	0.16704	-0.249000	0.09569	0.482000	0.46254	ATG		0.552	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		G	74559419	A	G	74559419	3	3	55	1	0	0	0	0	1	0	0	0	17458	217	8	4	953	4	XRRA1	11	74559419	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	931805	74559419	60447097	53	3495											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctccatctgccaCgggctgcaacatacaatggc	9	7	9	16	1	1	0	0	0	1	0	2	0	2	0	4	2	6	2	4	2	3	1	rs371697073		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:130281492C>T	ENST00000257359.6	-	6	2276	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	524	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													C|||	1	0.000199681	0	0	5008	,	,		19254	0.001		0	False		,,,				2504	0					uc001qgg.4																			2	Substitution - Missense(2)	p.V553M(1)|p.V524M(1)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1570-1572)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.		C	MET/VAL	1,4041		0,1,2020	46	49	48		1570	1.7	0.9	11		48	0,8364		0,0,4182	no	missense	ADAMTS8	NM_007037.4	21	0,1,6202	TT,TC,CC		0.0,0.0247,0.0081	benign	524/890	130281492	1,12405	2021	4182	6203	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281492C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1570G>A	11.37:g.130281492C>T	ENSP00000257359:p.Val524Met					ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	p.V524M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1928	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	524			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1570G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454419	0.26161	2.47E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.61158	0.13	5.87	1.73	0.24493	.	0.400931	0.26349	N	0.024882	T	0.27489	0.0675	N	0.03608	-0.345	0.22213	N	0.999287	B;B	0.25955	0.138;0.005	B;B	0.20184	0.028;0.003	T	0.16453	-1.0402	10	0.66056	D	0.02	.	4.285	0.10850	0.1098:0.469:0.2867:0.1345	.	524;5	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	524;553	ENSP00000257359:V524M	ENSP00000257359:V524M	V	-	1	0	ADAMTS8	129786702	0.000000	0.05858	0.932000	0.37286	0.531000	0.34715	-0.362000	0.07602	0.395000	0.25257	-0.238000	0.12139	GTG		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		T	130281492	C	T	130281492	3	4	55	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	55722073	130281492	4725024	54	3496											
KRT4	3851	broad.mit.edu	37	chr12	53208029	53208029	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccatccttcccgcacccGttgagcatgtcactaaacac	10	8	6	17	2	1	1	1	1	0	0	3	1	3	1	4	0	3	3	4	0	2	3	rs143824965	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:53208029G>A	ENST00000551956.1	-	0	306				KRT4_ENST00000293774.4_Silent_p.N12N|KRT4_ENST00000458244.2_5'Flank			P19013	K2C4_HUMAN	keratin 4						cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCCGCACCCGTTGAGCATGT	0.542													G|||	3	0.000599042	0.0023	0	5008	,	,		19706	0		0	False		,,,				2504	0				Pancreas(190;284 2995 41444 45903)	uc001saz.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(34-36)aaC>aaT		Homo sapiens keratin 4 (KRT4), mRNA.		G		10,3832		0,10,1911	67	72	70			3.9	1	12	dbSNP_134	70	0,8230		0,0,4115	no	near-gene-5				0,10,6026	AA,AG,GG		0.0,0.2603,0.0828			53208029	10,12062	1921	4115	6036			3851					keratin filament	structural molecule activity	g.chr12:53208029G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.-187C>T	12.37:g.53208029G>A							p.N12N	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			0	36	-			0					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.36C>T	CCDS41787.2																																																																																				0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		A	53208029	G	A	53208029	1	1	55	1	0	1	0	0	0	0	0	0	8477	1136	40	1		1	KRT4	12	53208029	De_novo_Start_OutOfFrame	SNP	G	TCGA-06-0648-01A-01W-0323-08		53208029	80643866	55	3497											
MYO1A	4640	broad.mit.edu	37	chr12	57432332	57432332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacaaggaccgaaggaGggggtgctgggccttccaca	12	4	16	9	1	0	0	0	0	0	0	1	4	1	3	3	6	2	1	3	6	3	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:57432332G>A	ENST00000442789.2	-	18	1911	c.1624C>T	c.(1624-1626)Ctc>Ttc	p.L542F	MYO1A_ENST00000300119.3_Missense_Mutation_p.L542F|MYO1A_ENST00000544473.1_Missense_Mutation_p.L380F|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	542	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GACCGAAGGAGGGGGTGCTGG	0.537																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1624-1626)Ctc>Ttc		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							78	77	77					12																	57432332		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432332G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1624C>T	12.37:g.57432332G>A	ENSP00000393392:p.Leu542Phe					MYO1A_uc010sqz.2_Missense_Mutation_p.L380F|MYO1A_uc009zpd.3_Missense_Mutation_p.L542F	p.L542F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			16	1864	-			542			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1624C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423936	0.83667	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88124	-2.34;-2.34;-2.34	4.94	4.03	0.46877	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	L	0.39326	1.205	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	D	0.89235	0.3580	10	0.56958	D	0.05	.	11.9539	0.52970	0.0919:0.0:0.9081:0.0	.	542	Q9UBC5	MYO1A_HUMAN	F	542;542;380	ENSP00000300119:L542F;ENSP00000393392:L542F;ENSP00000440514:L380F	ENSP00000300119:L542F	L	-	1	0	MYO1A	55718599	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.730000	0.68546	2.477000	0.83638	0.561000	0.74099	CTC		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57432332	G	A	57432332	3	1	55	1	0	0	0	0	1	0	0	0	10068	1000	35	3	1555	3	MYO1A	12	57432332	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	4224303	57432332	76419563	56	3498											
C12orf66	144577	broad.mit.edu	37	chr12	64588399	64588399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggacgtcaacttccagctgGaaactgctttccaaaggact	12	9	9	11	1	1	0	1	0	0	0	3	3	3	3	2	3	4	2	2	3	3	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:64588399G>A	ENST00000398055.3	-	3	614	c.561C>T	c.(559-561)ttC>ttT	p.F187F	C12orf66_ENST00000544871.1_Silent_p.F134F|C12orf66_ENST00000311915.8_Silent_p.F187F	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	187										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTTCCAGCTGGAAACTGCTTT	0.478																																						uc001srw.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(559-561)ttC>ttT		Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.							58	55	56					12																	64588399		1891	4135	6026	SO:0001819	synonymous_variant	144577							g.chr12:64588399G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.561C>T	12.37:g.64588399G>A							p.F187F	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			2	620	-			187					C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	c.561C>T	CCDS41803.1																																																																																				0.478	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		A	64588399	G	A	64588399	2	1	55	1	0	0	0	0	0	0	0	1	1709	1165	41	3		3	C12orf66	12	64588399	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	7156067	64588399	69263496	57	3499											
KSR2	283455	broad.mit.edu	37	chr12	118016952	118016952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacacttgaggccaaaaaGcatccctttcccacagactg	12	10	6	13	0	0	2	0	1	0	1	2	2	2	2	3	1	2	1	3	1	3	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:118016952G>A	ENST00000339824.5	-	7	2024	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.L404F|KSR2_ENST00000302438.5_Missense_Mutation_p.L130F			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	433					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L465F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCAAAAAGCATCCCTTTC	0.478																																						uc001two.2																			1	Substitution - Missense(1)	p.L465F(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1210-1212)Ctt>Ttt		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							77	73	74					12																	118016952		1965	4156	6121	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118016952G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1297C>T	12.37:g.118016952G>A	ENSP00000339952:p.Leu433Phe						p.L404F	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			6	1265	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		433					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1210C>T		.	.	.	.	.	.	.	.	.	.	G	11.62	1.692058	0.30052	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.58797	0.31;0.31;0.31	4.6	3.68	0.42216	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000002	T	0.37019	0.0988	N	0.01705	-0.755	0.47949	D	0.999558	D	0.59357	0.985	P	0.61477	0.889	T	0.50083	-0.8869	10	0.02654	T	1	.	6.7933	0.23711	0.2611:0.0:0.7389:0.0	.	433	Q6VAB6	KSR2_HUMAN	F	404;433;130;105	ENSP00000389715:L404F;ENSP00000339952:L433F;ENSP00000305466:L130F	ENSP00000305466:L130F	L	-	1	0	KSR2	116501335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.666000	0.46799	2.268000	0.75426	0.400000	0.26472	CTT		0.478	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		A	118016952	G	A	118016952	3	1	55	1	0	0	0	0	1	0	0	0	8582	971	34	3	1611	3	KSR2	12	118016952	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	53428553	118016952	15834943	58	3500											
CCDC60	160777	broad.mit.edu	37	chr12	119866567	119866567	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaccttatacgaagccGgtgagtgagcccagcaggga	13	5	14	9	2	0	2	0	2	0	0	0	5	0	4	3	3	4	1	3	3	4	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:119866567G>A	ENST00000327554.2	+	2	635	c.170G>A	c.(169-171)cGc>cAc	p.R57H	CCDC60_ENST00000539847.1_Missense_Mutation_p.R57Q|CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000536742.1_Splice_Site_p.R57H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	57										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATACGAAGCCGGTGAGTGAGC	0.502																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e2+1		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							59	52	54					12																	119866567		2203	4300	6503	SO:0001630	splice_region_variant	160777							g.chr12:119866567G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.170+1G>A	12.37:g.119866567G>A						AF086288_uc001txf.3_Intron	p.R57_splice	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	2	635	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		57						Missense_Mutation	SNP	ENST00000327554.2	37	c.170_splice	CCDS9190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.923959|2.923959	0.52653|0.52653	.|.	.|.	ENSG00000183273|ENSG00000183273	ENST00000536742;ENST00000327554|ENST00000539847	T;T|T	0.60920|0.64803	0.15;1.37|-0.12	4.54|4.54	3.64|3.64	0.41730|0.41730	.|.	0.118494|0.118494	0.34603|0.34603	N|N	0.003830|0.003830	T|T	0.61060|0.61060	0.2317|0.2317	L|L	0.50333|0.50333	1.59|1.59	0.29353|0.29353	N|N	0.865219|0.865219	D|.	0.69078|.	0.997|.	P|.	0.59288|.	0.855|.	T|T	0.58674|0.58674	-0.7595|-0.7595	9|7	.|.	.|.	.|.	-3.9396|-3.9396	10.7273|10.7273	0.46077|0.46077	0.0:0.1925:0.8075:0.0|0.0:0.1925:0.8075:0.0	.|.	57|.	Q8IWA6|.	CCD60_HUMAN|.	H|Q	57|57	ENSP00000445505:R57H;ENSP00000333374:R57H|ENSP00000443403:R57Q	.|.	R|R	+|+	2|2	0|0	CCDC60|CCDC60	118350950|118350950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.769000|3.769000	0.55303|0.55303	1.493000|1.493000	0.48517|0.48517	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.502	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	Missense_Mutation	A	119866567	G	A	119866567	5	1	55	1	0	0	0	0	0	0	1	0	2831	1130	39	2	176	2	CCDC60	12	119866567	Splice_Site	SNP	G	TCGA-06-0648-01A-01W-0323-08	1849615	119866567	13985328	59	3501											
GPR133	283383	broad.mit.edu	37	chr12	131487816	131487816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacggcagcacgccccaGgtcaccgtggagggctcctc	6	5	13	17	3	1	0	1	0	0	0	3	1	2	1	4	4	2	4	4	4	0	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:131487816G>T	ENST00000261654.5	+	10	1672	c.1113G>T	c.(1111-1113)caG>caT	p.Q371H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q403H|GPR133_ENST00000376682.4_Missense_Mutation_p.Q57H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	371					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACGCCCCAGGTCACCGTGG	0.617																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1207-1209)caG>caT		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							97	81	86					12																	131487816		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487816G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1113G>T	12.37:g.131487816G>T	ENSP00000261654:p.Gln371His					GPR133_uc001uit.4_Missense_Mutation_p.Q371H	p.Q403H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1768	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		371					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1209G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189858	0.21954	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.41758	1.02;1.02;0.99	4.88	0.211	0.15236	.	0.966484	0.08589	N	0.923391	T	0.22742	0.0549	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.27536	-1.0071	10	0.09590	T	0.72	.	6.568	0.22523	0.0:0.379:0.3014:0.3196	.	403;371	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	371;403;62;67;57	ENSP00000261654:Q371H;ENSP00000444425:Q403H;ENSP00000365872:Q57H	ENSP00000261654:Q371H	Q	+	3	2	GPR133	130053769	0.000000	0.05858	0.030000	0.17652	0.012000	0.07955	-0.167000	0.09940	0.448000	0.26722	0.511000	0.50034	CAG		0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131487816	G	T	131487816	3	4	55	1	0	0	0	0	1	0	0	0	6643	991	35	5	1151	5	GPR133	12	131487816	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	11621249	131487816	2364079	60	3502											
DCLK1	9201	broad.mit.edu	37	chr13	36428681	36428681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggtgatgggcttggCgacttgcctgagcgcggagt	4	10	19	8	3	0	2	0	2	0	0	0	4	0	3	1	5	2	1	1	5	0	2	rs200783749		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:36428681C>T	ENST00000360631.3	-	6	1201	c.990G>A	c.(988-990)tcG>tcA	p.S330S	DCLK1_ENST00000379893.1_Silent_p.S23S|DCLK1_ENST00000379892.4_Silent_p.S330S|DCLK1_ENST00000255448.4_Silent_p.S330S|DCLK1_ENST00000460982.1_5'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	330	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.S330S(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGGGCTTGGCGACTTGCCTG	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		18161	0		0	False		,,,				2504	0					uc001uvf.3																			2	Substitution - coding silent(2)	p.S330S(3)	large_intestine(2)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(988-990)tcG>tcA		Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.							132	116	121					13																	36428681		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36428681C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.990G>A	13.37:g.36428681C>T						MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.S23S|DCLK1_uc010teh.2_Silent_p.S23S|DCLK1_uc010abk.3_Silent_p.S23S|DCLK1_uc001uvh.4_Silent_p.S23S	p.S330S	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	5	1273	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	330			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.990G>A																																																																																					0.493	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36428681	C	T	36428681	2	4	55	1	0	0	0	0	0	0	0	1	4291	755	27	1		1	DCLK1	13	36428681	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08		36428681	78741197	61	3503											
GRK1	6011	broad.mit.edu	37	chr13	114321752	114321752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaactctgccttcatcgcCgcccgaggcagctttgacgg	6	8	11	16	4	2	1	1	1	1	0	3	2	2	1	4	2	3	2	4	2	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:114321752C>T	ENST00000335678.6	+	1	283	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	17	N-terminal.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTTCATCGCCGCCCGAGGCA	0.647																																						uc010tkf.2																			0				ovary(2)	2						c.(49-51)gcC>gcT		Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.							32	39	37					13																	114321752		2082	4217	6299	SO:0001819	synonymous_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114321752C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.51C>T	13.37:g.114321752C>T							p.A17A	NM_002929	NP_002920	Q15835	RK_HUMAN	all cancers(43;0.234)		0	156	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	17			N-terminal.		Q53X14	Silent	SNP	ENST00000335678.6	37	c.51C>T																																																																																					0.647	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		T	114321752	C	T	114321752	2	4	55	1	0	0	0	0	0	0	0	1	6790	639	23	2		2	GRK1	13	114321752	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	77893071	114321752	848126	62	3504											
SCFD1	23256	broad.mit.edu	37	chr14	31139520	31139520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagtggaaaactctccagCtggtgctagaccaaagagaa	15	6	12	8	0	1	2	0	0	1	2	2	5	1	4	2	3	3	2	2	3	5	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:31139520C>G	ENST00000458591.2	+	11	1141	c.914C>G	c.(913-915)gCt>gGt	p.A305G	SCFD1_ENST00000544052.2_Missense_Mutation_p.A238G|SCFD1_ENST00000421551.3_Missense_Mutation_p.A246G|SCFD1_ENST00000396629.2_Missense_Mutation_p.A213G|SCFD1_ENST00000541123.1_Missense_Mutation_p.A120G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	305					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AACTCTCCAGCTGGTGCTAGA	0.328																																						uc001wqm.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(913-915)gCt>gGt		Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.							75	90	85					14																	31139520		2203	4297	6500	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31139520C>G	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.914C>G	14.37:g.31139520C>G	ENSP00000390783:p.Ala305Gly					SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G	p.A305G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	10	938	+	Hepatocellular(127;0.0877)		305					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.914C>G	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510842	0.64522	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.46	5.46	0.80206	.	0.167340	0.51477	D	0.000081	T	0.25457	0.0619	N	0.16743	0.435	0.58432	D	0.999998	B;B;B;B	0.20164	0.0;0.042;0.003;0.001	B;B;B;B	0.28385	0.001;0.089;0.008;0.003	T	0.04607	-1.0939	10	0.31617	T	0.26	-40.3392	19.6693	0.95905	0.0:1.0:0.0:0.0	.	246;238;213;305	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	305;238;246;120;213	ENSP00000390783:A305G;ENSP00000443010:A238G;ENSP00000388078:A246G;ENSP00000443537:A120G;ENSP00000379870:A213G	ENSP00000309417:A313G	A	+	2	0	SCFD1	30209271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.518000	0.73764	2.711000	0.92665	0.650000	0.86243	GCT		0.328	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		G	31139520	C	G	31139520	3	3	55	1	0	0	0	0	1	0	0	0	13889	797	28	5	956	5	SCFD1	14	31139520	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		31139520	76210020	63	3505											
FANCM	57697	broad.mit.edu	37	chr14	45665510	45665510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattcttgtaggtggtcatGaaatcacttctggattagaa	11	15	10	5	0	4	2	2	1	2	1	4	3	4	3	0	3	0	2	0	3	5	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:45665510G>A	ENST00000267430.5	+	21	5561	c.5476G>A	c.(5476-5478)Gaa>Aaa	p.E1826K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1800K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1826	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGGTGGTCATGAAATCACTTC	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5476-5478)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							130	125	127					14																	45665510		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45665510G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5476G>A	14.37:g.45665510G>A	ENSP00000267430:p.Glu1826Lys					FANCM_uc010anf.3_Missense_Mutation_p.E1800K|FANCM_uc001wwe.4_Missense_Mutation_p.E1362K|FANCM_uc010ang.3_Missense_Mutation_p.E1075K	p.E1826K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	5575	+			1826			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5476G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428175	0.62844	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.26957	2.15;2.24;1.7	5.27	5.27	0.74061	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (1);	0.143965	0.52532	D	0.000080	T	0.53206	0.1782	M	0.76328	2.33	0.38647	D	0.951747	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.56902	-0.7902	10	0.48119	T	0.1	.	18.5024	0.90887	0.0:0.0:1.0:0.0	.	1800;1826	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	1826;1800;1342	ENSP00000267430:E1826K;ENSP00000442493:E1800K;ENSP00000452033:E1342K	ENSP00000267430:E1826K	E	+	1	0	FANCM	44735260	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.329000	0.59260	2.468000	0.83385	0.563000	0.77884	GAA		0.418	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45665510	G	A	45665510	3	1	55	1	0	0	0	0	1	0	0	0	5671	1291	45	3	5558	3	FANCM	14	45665510	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	14525990	45665510	61684030	64	3506											
ESR2	2100	broad.mit.edu	37	chr14	64727172	64727172	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagaaagccctaccgggaAtcttcttggcccagctgatc	9	8	10	14	1	2	2	0	1	2	1	3	3	2	3	4	2	3	1	4	2	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:64727172A>T	ENST00000341099.4	-	5	1364	c.947T>A	c.(946-948)aTt>aAt	p.I316N	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.I316N|ESR2_ENST00000553796.1_Missense_Mutation_p.I316N|ESR2_ENST00000357782.2_Missense_Mutation_p.I316N|ESR2_ENST00000353772.3_Missense_Mutation_p.I316N|ESR2_ENST00000555278.1_Missense_Mutation_p.I316N|ESR2_ENST00000358599.5_Missense_Mutation_p.I316N|ESR2_ENST00000557772.1_Missense_Mutation_p.I316N|ESR2_ENST00000554572.1_Missense_Mutation_p.I316N|ESR2_ENST00000267525.6_Missense_Mutation_p.I316N	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	316	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCTACCGGGAATCTTCTTGGC	0.532																																						uc001xha.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(946-948)aTt>aAt		Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						98	102	101					14																	64727172		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727172A>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.947T>A	14.37:g.64727172A>T	ENSP00000343925:p.Ile316Asn					ESR2_uc001xgy.2_Missense_Mutation_p.I316N|ESR2_uc001xgu.3_Missense_Mutation_p.I316N|ESR2_uc001xgv.3_Missense_Mutation_p.I316N|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.2_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_Non-coding_Transcript	p.I316N	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	4	1415	-			316			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.947T>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514241	0.85389	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;0.3	5.83	5.83	0.93111	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;0.999;1.0;1.0	D	0.99731	1.1012	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	316;316;316;316;316	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	N	316	ENSP00000452485:I316N;ENSP00000441792:I316N;ENSP00000450699:I316N;ENSP00000335551:I316N;ENSP00000351412:I316N;ENSP00000450488:I316N;ENSP00000452426:I316N;ENSP00000350427:I316N;ENSP00000451582:I316N;ENSP00000343925:I316N;ENSP00000267525:I316N	ENSP00000267525:I316N	I	-	2	0	ESR2	63796925	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	9.226000	0.95229	2.231000	0.72958	0.460000	0.39030	ATT		0.532	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64727172	A	T	64727172	3	4	55	1	0	0	0	0	1	0	0	0	5257	101	4	5	751	5	ESR2	14	64727172	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	19061662	64727172	42622368	65	3507											
SERPINA6	866	broad.mit.edu	37	chr14	94780400	94780400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatagttgaccaggaCgaggatggctgggctatcca	12	8	14	7	1	0	2	0	1	0	1	1	6	1	4	2	4	0	3	2	4	4	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:94780400C>T	ENST00000341584.3	-	2	732	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	196					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTGACCAGGACGAGGATGGCT	0.502																																						uc001ycv.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(586-588)Gtc>Atc		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						116	114	115					14																	94780400		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780400C>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.586G>A	14.37:g.94780400C>T	ENSP00000342850:p.Val196Ile					SERPINA6_uc010auv.3_Non-coding_Transcript	p.V196I	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	1	690	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	196					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.586G>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288392	0.10513	.	.	ENSG00000170099	ENST00000341584	D	0.85411	-1.98	5.06	-0.508	0.11980	Serpin domain (3);	0.989207	0.08230	N	0.977772	T	0.63331	0.2502	N	0.05124	-0.11	0.19575	N	0.999967	B	0.27765	0.188	B	0.25884	0.064	T	0.52351	-0.8587	10	0.19590	T	0.45	.	2.1852	0.03885	0.1151:0.347:0.1834:0.3545	.	196	P08185	CBG_HUMAN	I	196	ENSP00000342850:V196I	ENSP00000342850:V196I	V	-	1	0	SERPINA6	93850153	0.003000	0.15002	0.952000	0.39060	0.771000	0.43674	-1.158000	0.03153	0.085000	0.17107	-0.459000	0.05422	GTC		0.502	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		T	94780400	C	T	94780400	3	4	55	1	0	0	0	0	1	0	0	0	14093	536	19	1	647	1	SERPINA6	14	94780400	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	30053228	94780400	12569140	66	3508											
AHNAK2	113146	broad.mit.edu	37	chr14	105410846	105410846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctggggccgataccctgaAtgacggcatcttgaatttgg	8	10	12	11	2	1	3	0	3	1	0	1	4	1	3	3	4	1	1	3	4	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105410846A>G	ENST00000333244.5	-	7	11061	c.10942T>C	c.(10942-10944)Ttc>Ctc	p.F3648L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3648						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATACCCTGAATGACGGCATC	0.592																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10942-10944)Ttc>Ctc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							190	202	198					14																	105410846		1995	4160	6155	SO:0001583	missense	113146					nucleus		g.chr14:105410846A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10942T>C	14.37:g.105410846A>G	ENSP00000353114:p.Phe3648Leu					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L	p.F3648L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11062	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3648					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10942T>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	9.968	1.224696	0.22457	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	4.3	3.05	0.35203	.	.	.	.	.	T	0.02533	0.0077	M	0.71036	2.16	0.09310	N	1	P	0.37731	0.607	B	0.39465	0.3	T	0.24905	-1.0147	9	0.07325	T	0.83	.	6.0947	0.20013	0.6708:0.1677:0.0:0.1614	.	3648	Q8IVF2	AHNK2_HUMAN	L	3648	ENSP00000353114:F3648L	ENSP00000353114:F3648L	F	-	1	0	AHNAK2	104481891	0.002000	0.14202	0.041000	0.18516	0.003000	0.03518	-0.040000	0.12104	1.585000	0.49928	0.402000	0.26972	TTC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105410846	A	G	105410846	3	3	55	1	0	0	0	0	1	0	0	0	415	101	4	4	6449	4	AHNAK2	14	105410846	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	10630446	105410846	1938694	67	3509											
AHNAK2	113146	broad.mit.edu	37	chr14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtccccgtccagctgtgCgccatccaacttggctcccg	5	8	10	18	3	0	0	0	0	0	0	4	0	4	0	6	2	3	2	6	2	1	1	rs532275274		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105417866C>T	ENST00000333244.5	-	7	4041	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1308						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTGTGCGCCATCCAAC	0.597													.|||	1	0.000199681	0	0	5008	,	,		14816	0		0	False		,,,				2504	0.001					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3922-3924)Gca>Aca		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							102	88	94					14																	105417866		1927	3274	5201	SO:0001583	missense	113146					nucleus		g.chr14:105417866C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3922G>A	14.37:g.105417866C>T	ENSP00000353114:p.Ala1308Thr					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T	p.A1308T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4042	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1308					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3922G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.821	0.937460	0.18206	.	.	ENSG00000185567	ENST00000333244	T	0.00651	5.97	3.18	-4.1	0.03940	.	.	.	.	.	T	0.00468	0.0015	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.42732	-0.9434	9	0.14656	T	0.56	.	5.2254	0.15391	0.0:0.2637:0.2749:0.4614	.	1308	Q8IVF2	AHNK2_HUMAN	T	1308	ENSP00000353114:A1308T	ENSP00000353114:A1308T	A	-	1	0	AHNAK2	104488911	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.800000	0.27042	-2.064000	0.00888	-2.658000	0.00147	GCA		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105417866	C	T	105417866	3	4	55	1	0	0	0	0	1	0	0	0	415	768	27	1	13469	1	AHNAK2	14	105417866	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	7020	105417866	1931674	68	3510											
DUOX2	50506	broad.mit.edu	37	chr15	45392270	45392270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcacgatctgcaaacacGccaacacagatggccgagaa	16	4	9	12	3	1	2	0	0	1	2	1	4	1	2	2	1	4	2	2	1	4	1	rs372592162		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:45392270G>A	ENST00000603300.1	-	24	3364	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	DUOX2_ENST00000389039.6_Silent_p.G1054G	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1054	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAAACACGCCAACACAGA	0.562													G|||	1	0.000199681	0	0	5008	,	,		21383	0.001		0	False		,,,				2504	0					uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3160-3162)ggC>ggT		Homo sapiens dual oxidase 2 (DUOX2), mRNA.		G		1,4395	2.1+/-5.4	0,1,2197	151	125	134		3162	2.4	1	15		134	0,8596		0,0,4298	no	coding-synonymous	DUOX2	NM_014080.4		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		1054/1549	45392270	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45392270G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3162C>T	15.37:g.45392270G>A						DUOX2_uc010bea.3_Silent_p.G1054G	p.G1054G	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	23	3365	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1054			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.3162C>T	CCDS10117.1																																																																																				0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45392270	G	A	45392270	2	1	55	1	0	0	0	0	0	0	0	1	4801	1074	38	1		1	DUOX2	15	45392270	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		45392270	57139122	69	3511											
FBXO22	26263	broad.mit.edu	37	chr15	76205599	76205599	+	Frame_Shift_Del	DEL	T	T	-																															ggctgattcagaaactttcaTtagtctggaagagtgtcgtg																										TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:76205599delT	ENST00000308275.3	+	3	440	c.335delT	c.(334-336)attfs	p.I112fs	FBXO22_ENST00000540507.1_Frame_Shift_Del_p.I8fs|FBXO22_ENST00000453211.2_Frame_Shift_Del_p.I112fs	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	112					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAACTTTCATTAGTCTGGAA	0.358																																						uc002bbk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(334-336)attfs		Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.							73	77	75					15																	76205599		2197	4294	6491	SO:0001589	frameshift_variant	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76205599delT	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.335delT	15.37:g.76205599delT	ENSP00000307833:p.Ile112fs					FBXO22_uc002bbj.2_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.3_Frame_Shift_Del_p.I8fs	p.I112fs	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			2	440	+			112					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Frame_Shift_Del	DEL	ENST00000308275.3	37	c.335delT	CCDS10287.1																																																																																				0.358	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		-	76205599	T	-	76205599	7	5	55	1	0	1	0	1	0	0	0	0	5734	1493	52	0	345	0	FBXO22	15	76205599	Frame_Shift_Del	DEL	T	TCGA-06-0648-01A-01W-0323-08	30813329	76205599	26325793	70	3512											
SYNM	23336	broad.mit.edu	37	chr15	99670079	99670079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacagaagtgaaagccaCgagggagcaagaaagaaaca	22	1	12	6	1	0	4	0	1	0	3	0	7	0	5	1	1	4	1	1	1	7	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:99670079C>T	ENST00000560674.1	+	4	1125	c.656C>T	c.(655-657)aCg>aTg	p.T219M	SYNM_ENST00000328642.7_Missense_Mutation_p.T504M|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.T504M|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	505	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTGAAAGCCACGAGGGAGCAA	0.488																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1510-1512)aCg>aTg		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.							38	39	38					15																	99670079		1926	4132	6058	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670079C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.656C>T	15.37:g.99670079C>T	ENSP00000453040:p.Thr219Met					SYNM_uc002buo.3_Missense_Mutation_p.T504M|SYNM_uc002buq.3_Intron	p.T504M	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	1631	+			505			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1511C>T		.	.	.	.	.	.	.	.	.	.	C	13.50	2.254525	0.39896	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.25250	1.81;1.81	5.44	2.53	0.30540	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.09310	N	1	P;B	0.36837	0.571;0.205	B;B	0.25291	0.059;0.032	T	0.10086	-1.0645	8	0.46703	T	0.11	.	8.1686	0.31241	0.1297:0.7453:0.0:0.125	.	505;504	O15061;C9JIE4	SYNEM_HUMAN;.	M	504	ENSP00000336775:T504M;ENSP00000330469:T504M	ENSP00000330469:T504M	T	+	2	0	SYNM	97487602	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	0.492000	0.22435	0.357000	0.24183	0.655000	0.94253	ACG		0.488	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		T	99670079	C	T	99670079	3	4	55	1	0	0	0	0	1	0	0	0	15452	536	19	1	1527	1	SYNM	15	99670079	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	23464480	99670079	2861313	71	3513											
LRRK1	79705	broad.mit.edu	37	chr15	101586198	101586198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttcagctacctcctgccCcatctccttccatctaaacc	7	13	3	18	0	3	0	1	0	2	0	6	0	5	0	7	0	4	2	7	0	3	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:101586198C>T	ENST00000388948.3	+	21	3335	c.2976C>T	c.(2974-2976)ccC>ccT	p.P992P	LRRK1_ENST00000284395.5_Silent_p.P989P|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTCCTGCCCCATCTCCTTC	0.592																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2974-2976)ccC>ccT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							103	111	109					15																	101586198		2037	4166	6203	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101586198C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2976C>T	15.37:g.101586198C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.P992P	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	3295	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		992						Silent	SNP	ENST00000388948.3	37	c.2976C>T	CCDS42086.1																																																																																				0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101586198	C	T	101586198	2	4	55	1	0	0	0	0	0	0	0	1	9032	610	22	3		3	LRRK1	15	101586198	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	1916119	101586198	945194	72	3514											
SPIRE2	84501	broad.mit.edu	37	chr16	89916966	89916966	+	Frame_Shift_Del	DEL	C	C	-																															tgcgcggcgcggctgaccgaCccccggggcgcacaggcgca																										TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr16:89916966delC	ENST00000378247.3	+	3	586	c.543delC	c.(541-543)gacfs	p.D181fs	SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.D181fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	181	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGCTGACCGACCCCCGGGGCG	0.751																																						uc002foz.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(541-543)gacfs		Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.							3	5	4					16																	89916966		1720	3549	5269	SO:0001589	frameshift_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89916966delC	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.543delC	16.37:g.89916966delC	ENSP00000367494:p.Asp181fs					SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs	p.D181fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	2	595	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	181			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	37	c.543delC	CCDS32516.1																																																																																				0.751	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		-	89916966	C	-	89916966	7	5	55	1	0	1	0	1	0	0	0	0	15071	506	18	0	553	0	SPIRE2	16	89916966	Frame_Shift_Del	DEL	C	TCGA-06-0648-01A-01W-0323-08		89916966	437787	73	3515											
OR3A2	4995	broad.mit.edu	37	chr17	3181738	3181738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagtgtgggtcagtgcGttggtgaaggcacaagccaa	10	7	15	9	1	1	1	1	1	0	0	1	1	1	1	2	3	2	2	2	3	3	1	rs554078410	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:3181738G>A	ENST00000408891.2	-	1	530	c.492C>T	c.(490-492)aaC>aaT	p.N164N	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	164					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GGGTCAGTGCGTTGGTGAAGG	0.582													G|||	3	0.000599042	0	0	5008	,	,		20392	0		0	False		,,,				2504	0.0031				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.3																			0				ovary(1)	1						c.(490-492)aaC>aaT		Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.							153	141	145					17																	3181738		2203	4300	6503	SO:0001819	synonymous_variant	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181738G>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.492C>T	17.37:g.3181738G>A							p.N164N	NM_002551	NP_002542	P47893	OR3A2_HUMAN			0	531	-			164					Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	c.492C>T	CCDS42233.1																																																																																				0.582	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			A	3181738	G	A	3181738	2	1	55	1	0	0	0	0	0	0	0	1	11038	1136	40	1		1	OR3A2	17	3181738	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		3181738	78013472	74	3516											
DNAH2	146754	broad.mit.edu	37	chr17	7736507	7736507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcccacgatccacttccGgcctgcagagagccgcaaga	10	5	10	16	3	0	2	0	0	0	2	2	4	2	2	5	1	3	2	5	1	1	1	rs145226741		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:7736507G>A	ENST00000572933.1	+	85	14557	c.13097G>A	c.(13096-13098)cGg>cAg	p.R4366Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R4366Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4366					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCCACTTCCGGCCTGCAGAG	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		18120	0		0	False		,,,				2504	0					uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(13096-13098)cGg>cAg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	37	38	37		13097	2.9	1	17	dbSNP_134	37	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	4366/4428	7736507	3,13003	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736507G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13097G>A	17.37:g.7736507G>A	ENSP00000458355:p.Arg4366Gln						p.R4366Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			83	13111	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4366					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13097G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002869	0.54254	6.81E-4	0.0	ENSG00000183914	ENST00000389173	T	0.08458	3.09	3.9	2.92	0.33932	Dynein heavy chain (1);	0.197729	0.40554	N	0.001075	T	0.07188	0.0182	L	0.38175	1.15	0.80722	D	1	B	0.27823	0.19	B	0.32677	0.15	T	0.27297	-1.0078	10	0.28530	T	0.3	.	7.7207	0.28731	0.1846:0.0:0.8154:0.0	.	4366	Q9P225	DYH2_HUMAN	Q	4366	ENSP00000373825:R4366Q	ENSP00000373825:R4366Q	R	+	2	0	DNAH2	7677232	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.785000	0.38684	2.191000	0.70037	0.484000	0.47621	CGG		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7736507	G	A	7736507	3	1	55	1	0	0	0	0	1	0	0	0	4602	1116	39	2	13431	2	DNAH2	17	7736507	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	4554769	7736507	73458703	75	3517											
MLLT6	4302	broad.mit.edu	37	chr17	36873166	36873166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccggcctgggaggtctgtCctcccgaacctttgggcctt	3	11	12	15	2	1	0	0	0	1	0	4	2	4	1	6	4	1	0	6	4	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:36873166C>T	ENST00000325718.7	+	10	1674	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	528					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGAGGTCTGTCCTCCCGAACC	0.637			T	MLL	AL																																	uc002hqi.4				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1582-1584)tCc>tTc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.																																				SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873166C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1583C>T	17.37:g.36873166C>T	ENSP00000316426:p.Ser528Phe					MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	p.S528F	NM_005937	NP_005928	P55198	AF17_HUMAN			9	1596	+	Breast(7;4.43e-21)		528					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1583C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894369	0.72639	.	.	ENSG00000108292	ENST00000325718	T	0.15952	2.38	5.17	5.17	0.71159	.	0.341998	0.31233	N	0.008009	T	0.14527	0.0351	N	0.22421	0.69	0.23896	N	0.996534	B	0.22480	0.07	B	0.28011	0.085	T	0.19549	-1.0302	10	0.66056	D	0.02	.	14.0319	0.64619	0.0:1.0:0.0:0.0	.	528	P55198	AF17_HUMAN	F	528	ENSP00000316426:S528F	ENSP00000316426:S528F	S	+	2	0	MLLT6	34126692	0.990000	0.36364	1.000000	0.80357	0.916000	0.54674	2.959000	0.49153	2.700000	0.92200	0.561000	0.74099	TCC		0.637	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		T	36873166	C	T	36873166	3	4	55	1	0	0	0	0	1	0	0	0	9630	855	30	3	1621	3	MLLT6	17	36873166	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	29136659	36873166	44322044	76	3518											
OR4D2	124538	broad.mit.edu	37	chr17	56247707	56247707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgaggtcacatccagggGaggcaagaaggaaggcagct	12	5	16	8	0	1	2	1	1	0	1	2	4	2	4	1	6	2	4	1	6	3	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:56247707G>A	ENST00000545221.1	+	1	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACATCCAGGGGAGGCAAGAAG	0.537																																						uc010wnp.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(691-693)Gag>Aag		Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.							170	116	135					17																	56247707		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247707G>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.691G>A	17.37:g.56247707G>A	ENSP00000441354:p.Glu231Lys						p.E231K	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			0	691	+			231					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.691G>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	9.287	1.049530	0.19827	.	.	ENSG00000255713	ENST00000545221	T	0.00174	8.62	5.71	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.113538	0.38897	N	0.001525	T	0.00271	0.0008	M	0.68317	2.08	0.09310	N	1	B	0.15473	0.013	B	0.22880	0.042	T	0.40478	-0.9561	10	0.59425	D	0.04	-6.5905	15.7094	0.77612	0.0:0.5784:0.4216:0.0	.	231	P58180	OR4D2_HUMAN	K	231	ENSP00000441354:E231K	ENSP00000441354:E231K	E	+	1	0	OR4D2	53602706	0.000000	0.05858	0.025000	0.17156	0.476000	0.33039	0.402000	0.20965	0.420000	0.25954	-0.316000	0.08728	GAG		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			A	56247707	G	A	56247707	3	1	55	1	0	0	0	0	1	0	0	0	11056	1175	41	3	693	3	OR4D2	17	56247707	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	19374541	56247707	24947503	77	3519											
C18orf45	85019	broad.mit.edu	37	chr18	20979531	20979531	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctctaatacttaccAgtctggacaatgctctggac	11	11	7	12	0	3	1	0	1	3	0	3	3	3	3	2	2	4	1	2	2	5	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr18:20979531A>T	ENST00000383233.3	-	4	330	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000399707.1_Splice_Site_p.L67Q|TMEM241_ENST00000542162.1_Splice_Site_p.L93Q	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	93						integral component of membrane (GO:0016021)											AATACTTACCAGTCTGGACAA	0.443																																						uc002kuf.3																			0											c.e4+1		Homo sapiens transmembrane protein 241 (TMEM241), mRNA.							140	132	135					18																	20979531		2203	4300	6503	SO:0001630	splice_region_variant	85019					integral to membrane		g.chr18:20979531A>T	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.279+1T>A	18.37:g.20979531A>T						TMEM241_uc010xaq.2_Intron|TMEM241_uc010xar.2_Splice_Site|TMEM241_uc002kug.3_Splice_Site|TMEM241_uc002kuh.3_Splice_Site	p.L93_splice	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			4	388	-			93					I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	c.279_splice	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061641	0.36373	.	.	ENSG00000134490	ENST00000383233;ENST00000542162;ENST00000399707	T;T;T	0.72394	0.86;-0.65;0.86	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000029	T	0.82051	0.4953	M	0.72894	2.215	0.48087	D	0.999584	D	0.89917	1.0	D	0.83275	0.996	D	0.84012	0.0349	10	0.87932	D	0	-32.4244	11.7222	0.51689	1.0:0.0:0.0:0.0	.	93	Q24JQ0	CR045_HUMAN	Q	93;93;67	ENSP00000372720:L93Q;ENSP00000440152:L93Q;ENSP00000382615:L67Q	ENSP00000372720:L93Q	L	-	2	0	C18orf45	19233529	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.379000	0.66196	2.029000	0.59856	0.460000	0.39030	CTG		0.443	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933	Missense_Mutation	T	20979531	A	T	20979531	5	4	55	1	0	0	0	0	0	0	1	0	1903	202	7	5	660	5	C18orf45	18	20979531	Splice_Site	SNP	A	TCGA-06-0648-01A-01W-0323-08		20979531	57097717	78	3520											
LGALS13	29124	broad.mit.edu	37	chr19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatattgccttccgtttcCgagtgcactttggcaatcat	8	14	8	11	2	1	1	1	0	0	1	3	2	3	1	3	1	2	3	3	1	2	5	rs534285827		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:40095888C>T	ENST00000221797.4	+	3	208	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	55	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													.|||	1	0.000199681	0	0	5008	,	,		23270	0		0	False		,,,				2504	0.001					uc002omb.3																			0		p.F54F(1)		lung(5)|ovary(1)|urinary_tract(1)	7						c.(163-165)Cga>Tga		Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.							242	178	200					19																	40095888		2203	4300	6503	SO:0001587	stop_gained	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095888C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.163C>T	19.37:g.40095888C>T	ENSP00000221797:p.Arg55*						p.R55*	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	203	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		55			Galectin.		C5HZ15	Nonsense_Mutation	SNP	ENST00000221797.4	37	c.163C>T	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	7.669	0.686497	0.14973	.	.	ENSG00000105198	ENST00000221797	.	.	.	0.744	-1.49	0.08718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	55	.	ENSP00000221797:R55X	R	+	1	2	LGALS13	44787728	0.023000	0.18921	0.001000	0.08648	0.015000	0.08874	-1.085000	0.03390	-2.080000	0.00870	-2.332000	0.00249	CGA		0.498	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		T	40095888	C	T	40095888	4	4	55	1	0	0	0	0	0	1	0	0	8740	644	23	2	173	2	LGALS13	19	40095888	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		40095888	19033095	79	3521											
CEACAM7	1087	broad.mit.edu	37	chr19	42187746	42187746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtcactgcGgctggcacccactgggttct	5	9	15	12	1	2	1	1	1	1	0	2	1	2	1	1	5	1	3	1	5	0	1	rs369677539		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:42187746G>A	ENST00000006724.3	-	3	877	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R226C	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	226	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTCACTGCGGCTGGCACCC	0.552																																						uc002ori.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(676-678)Cgc>Tgc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.		G	CYS/ARG	0,4406		0,0,2203	165	162	163		676	1.7	0.2	19		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM7	NM_006890.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	226/266	42187746	1,13005	2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187746G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.676C>T	19.37:g.42187746G>A	ENSP00000006724:p.Arg226Cys					CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron	p.R226C	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	678	-			226			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.676C>T	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	G	4.401	0.074019	0.08485	0.0	1.16E-4	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.12774	2.65;2.65	3.02	1.72	0.24424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23532	0.0569	M	0.86502	2.82	0.09310	N	0.999998	B	0.31290	0.318	B	0.38194	0.267	T	0.24261	-1.0165	9	0.72032	D	0.01	.	6.1342	0.20221	0.0:0.0:0.6032:0.3968	.	226	Q14002	CEAM7_HUMAN	C	226;205;226	ENSP00000006724:R226C;ENSP00000385932:R226C	ENSP00000006724:R226C	R	-	1	0	CEACAM7	46879586	0.000000	0.05858	0.219000	0.23793	0.110000	0.19582	-0.329000	0.07935	1.388000	0.46506	0.313000	0.20887	CGC		0.552	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		A	42187746	G	A	42187746	3	1	55	1	0	0	0	0	1	0	0	0	3197	1116	39	2	129	2	CEACAM7	19	42187746	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	2091858	42187746	16941237	80	3522											
BCAM	4059	broad.mit.edu	37	chr19	45322967	45322967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgctgccgccagcggCgggagaagggggctccgtga	5	4	18	14	4	0	2	0	1	0	1	1	3	1	2	5	4	3	2	5	4	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:45322967C>T	ENST00000270233.6	+	13	1769	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	BCAM_ENST00000589651.1_Missense_Mutation_p.R583W	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	583					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCCAGCGGCGGGAGAAGGG	0.642																																						uc002ozu.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1747-1749)Cgg>Tgg		Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.							14	17	16					19																	45322967		2183	4243	6426	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322967C>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1747C>T	19.37:g.45322967C>T	ENSP00000270233:p.Arg583Trp					BCAM_uc002ozt.1_Missense_Mutation_p.R583W	p.R583W	NM_005581	NP_005572	P50895	BCAM_HUMAN			12	1791	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	583					A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1747C>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	7.544	0.661234	0.14645	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.60299	0.2;0.29	4.08	0.262	0.15597	.	.	.	.	.	T	0.32102	0.0818	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	B	0.40444	0.329	T	0.19910	-1.0291	9	0.66056	D	0.02	-5.8905	6.6117	0.22755	0.1102:0.3595:0.5303:0.0	.	583	P50895	BCAM_HUMAN	W	583	ENSP00000270233:R583W;ENSP00000375817:R583W	ENSP00000270233:R583W	R	+	1	2	BCAM	50014807	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-0.632000	0.05489	0.319000	0.23209	-0.366000	0.07423	CGG		0.642	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		T	45322967	C	T	45322967	3	4	55	1	0	0	0	0	1	0	0	0	1344	759	27	1	1797	1	BCAM	19	45322967	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	3135221	45322967	13806016	81	3523											
FPR2	2358	broad.mit.edu	37	chr19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggtggctggattccGgatgacacgcacagtcacca	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	2	4	0	2	2	4	0	1	rs192933693	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:52272072G>A	ENST00000598776.1	+	2	933	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_ENST00000598953.1_Missense_Mutation_p.R54Q|FPR2_ENST00000340023.6_Missense_Mutation_p.R54Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	54					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													G|||	2	0.000399361	0.0015	0	5008	,	,		20931	0		0	False		,,,				2504	0					uc002pxr.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(160-162)cGg>cAg		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							200	158	172					19																	52272072		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272072G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.161G>A	19.37:g.52272072G>A	ENSP00000468897:p.Arg54Gln					FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN			1	206	+			54					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.161G>A	CCDS12840.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	17.74	3.464087	0.63513	.	.	ENSG00000171049	ENST00000340023	T	0.40756	1.02	3.61	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.335546	0.27696	U	0.018226	T	0.33498	0.0865	L	0.41632	1.29	0.31442	N	0.671801	P	0.41345	0.746	B	0.42188	0.379	T	0.34229	-0.9837	10	0.32370	T	0.25	.	9.2399	0.37489	0.1118:0.0:0.8882:0.0	.	54	P25090	FPR2_HUMAN	Q	54	ENSP00000340191:R54Q	ENSP00000340191:R54Q	R	+	2	0	FPR2	56963884	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	0.896000	0.28377	0.885000	0.36088	-0.333000	0.08304	CGG		0.562	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		A	52272072	G	A	52272072	3	1	55	1	0	0	0	0	1	0	0	0	6039	1116	39	2	163	2	FPR2	19	52272072	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	6949105	52272072	6856911	82	3524											
SPTLC3	55304	broad.mit.edu	37	chr20	13029756	13029756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagaaaaatgcaacgcagCtgtggaaagaaaagaacaaa	23	4	9	5	1	0	3	0	0	0	3	0	4	0	4	0	1	4	3	0	1	10	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:13029756C>A	ENST00000399002.2	+	2	555	c.281C>A	c.(280-282)gCt>gAt	p.A94D	SPTLC3_ENST00000378194.4_Missense_Mutation_p.A94D|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	94					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TGCAACGCAGCTGTGGAAAGA	0.423																																						uc002wod.1																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(280-282)gCt>gAt		Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	Pyridoxal Phosphate(DB00114)						122	118	119					20																	13029756		2203	4300	6503	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13029756C>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.281C>A	20.37:g.13029756C>A	ENSP00000381968:p.Ala94Asp					SPTLC3_uc002woc.3_Missense_Mutation_p.A94D	p.A94D	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			1	570	+			94					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.281C>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386271	0.61956	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82852	0.5127	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.83275	0.862;0.996	T	0.80688	-0.1271	10	0.35671	T	0.21	-16.6857	18.3527	0.90344	0.0:1.0:0.0:0.0	.	94;94	Q9NUV7;Q9NUV7-2	SPTC3_HUMAN;.	D	94;94;94;67	ENSP00000389749:A94D;ENSP00000381968:A94D;ENSP00000367436:A94D;ENSP00000409125:A67D	ENSP00000367436:A94D	A	+	2	0	SPTLC3	12977756	1.000000	0.71417	0.911000	0.35937	0.055000	0.15305	7.095000	0.76952	2.695000	0.91970	0.655000	0.94253	GCT		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		A	13029756	C	A	13029756	3	1	55	1	0	0	0	0	1	0	0	0	15124	797	28	5	287	5	SPTLC3	20	13029756	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		13029756	49995764	83	3525											
PLCG1	5335	broad.mit.edu	37	chr20	39788360	39788360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattgctttgtcattctctAtggaatggaatttcgcctga	9	16	8	8	1	2	1	1	1	1	0	4	3	2	3	1	2	1	1	1	2	3	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:39788360A>G	ENST00000373271.1	+	2	737	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y111C|PLCG1_ENST00000373272.2_Missense_Mutation_p.Y111C	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	111	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCATTCTCTATGGAATGGAA	0.537																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(331-333)tAt>tGt		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							101	104	103					20																	39788360		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39788360A>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.332A>G	20.37:g.39788360A>G	ENSP00000362368:p.Tyr111Cys					PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C	p.Y111C	NM_182811	NP_877963	P19174	PLCG1_HUMAN			1	453	+		Myeloproliferative disorder(115;0.00878)	111			PH 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.332A>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677680	0.88445	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65732	-0.17;-0.17;-0.17	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84616	0.0681	10	0.87932	D	0	.	14.8326	0.70159	1.0:0.0:0.0:0.0	.	111;111	P19174;A2A284	PLCG1_HUMAN;.	C	111	ENSP00000244007:Y111C;ENSP00000362368:Y111C;ENSP00000362369:Y111C	ENSP00000244007:Y111C	Y	+	2	0	PLCG1	39221774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.906000	0.92626	1.912000	0.55364	0.528000	0.53228	TAT		0.537	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		G	39788360	A	G	39788360	3	3	55	1	0	0	0	0	1	0	0	0	12035	449	16	4	338	4	PLCG1	20	39788360	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	26758604	39788360	23237160	84	3526											
RRP1B	23076	broad.mit.edu	37	chr21	45107441	45107441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggacagtgaaagcagtCttcaaaagagaagaaggaag	20	4	13	4	0	2	4	1	1	1	3	2	7	2	6	0	2	1	1	0	2	7	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr21:45107441C>T	ENST00000340648.4	+	13	1303	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	396					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGAAAGCAGTCTTCAAAAGAG	0.532																																						uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1186-1188)Ctt>Ttt		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							55	65	62					21																	45107441		2151	4216	6367	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107441C>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1186C>T	21.37:g.45107441C>T	ENSP00000339145:p.Leu396Phe					RRP1B_uc002zdl.3_5'UTR	p.L396F	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	12	1300	+			396					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1186C>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	6.620	0.482789	0.12581	.	.	ENSG00000160208	ENST00000340648	T	0.01051	5.4	4.67	-9.34	0.00636	.	1.557970	0.03609	N	0.234509	T	0.01156	0.0038	L	0.40543	1.245	0.09310	N	1	P	0.40476	0.718	B	0.36030	0.216	T	0.38672	-0.9650	10	0.87932	D	0	0.3556	8.8892	0.35423	0.2173:0.4345:0.3482:0.0	.	396	Q14684	RRP1B_HUMAN	F	396	ENSP00000339145:L396F	ENSP00000339145:L396F	L	+	1	0	RRP1B	43931869	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-2.074000	0.01375	-1.387000	0.02095	-0.397000	0.06425	CTT		0.532	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		T	45107441	C	T	45107441	3	4	55	1	0	0	0	0	1	0	0	0	13688	913	32	3	1236	3	RRP1B	21	45107441	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		45107441	3022454	85	3527											
CABIN1	23523	broad.mit.edu	37	chr22	24487684	24487684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcagccacccaccGtttacttgctgcactacagg	10	7	9	15	1	0	0	0	0	0	0	0	0	0	0	3	1	8	6	3	1	2	4	rs528073328		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr22:24487684G>A	ENST00000398319.2	+	24	4058	c.3673G>A	c.(3673-3675)Gtt>Att	p.V1225I	CABIN1_ENST00000263119.5_Missense_Mutation_p.V1225I|CABIN1_ENST00000405822.2_Missense_Mutation_p.V1175I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1225					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCACCCACCGTTTACTTGCT	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		18834	0		0	False		,,,				2504	0					uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3673-3675)Gtt>Att		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							85	68	74					22																	24487684		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24487684G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3673G>A	22.37:g.24487684G>A	ENSP00000381364:p.Val1225Ile					CABIN1_uc021wnc.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1225I	p.V1225I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			23	3800	+			1225					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3673G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033390	0.35893	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.25912	1.77;1.77;1.77	4.79	2.68	0.31781	Tetratricopeptide-like helical (1);	0.140254	0.49305	D	0.000150	T	0.11153	0.0272	N	0.16790	0.44	0.34117	D	0.663644	P;P	0.40638	0.725;0.605	B;B	0.26770	0.073;0.033	T	0.23048	-1.0199	10	0.48119	T	0.1	.	8.3958	0.32557	0.2468:0.0:0.7532:0.0	.	1175;1225	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1225;1175;1225	ENSP00000263119:V1225I;ENSP00000384694:V1175I;ENSP00000381364:V1225I	ENSP00000263119:V1225I	V	+	1	0	CABIN1	22817684	1.000000	0.71417	0.013000	0.15412	0.953000	0.61014	4.876000	0.63079	0.711000	0.32018	0.585000	0.79938	GTT		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24487684	G	A	24487684	3	1	55	1	0	0	0	0	1	0	0	0	2528	1145	40	1	3763	1	CABIN1	22	24487684	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		24487684	26816882	86	3528											
SHOX	6473	broad.mit.edu	37	chrX	591909	591909	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgcgagagtggcagaaGgtaagttcctttgcgctccg	8	8	14	11	4	0	2	0	0	0	2	2	3	2	2	3	2	1	5	3	2	2	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:591909G>A	ENST00000554971.1	+	1	368	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SHOX_ENST00000334060.3_Splice_Site_p.G93R|SHOX_ENST00000381575.1_Splice_Site_p.G93R|SHOX_ENST00000381578.1_Splice_Site_p.G93R			O15266	SHOX_HUMAN	short stature homeobox	93					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGTGGCAGAAGGTAAGTTCCT	0.647																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.e2+1		Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.							45	54	51					X																	591909		2203	4296	6499	SO:0001630	splice_region_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591909G>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"Pseudoautosomal regions / PAR1", "Homeoboxes / PRD class"	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.277+1G>A	X.37:g.591909G>A						SHOX_uc004cpi.3_Splice_Site_p.G93_splice	p.G93_splice	NM_000451	NP_000442	O15266	SHOX_HUMAN			2	968	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	93					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.277_splice	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643284	0.14451	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94576	-3.46;-3.33;-3.33;-3.46	1.73	1.73	0.24493	.	0.487586	0.20583	U	0.089488	D	0.91442	0.7299	M	0.69823	2.125	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.12156	0.007;0.002	T	0.76852	-0.2806	10	0.09590	T	0.72	.	11.6658	0.51372	0.0:0.0:1.0:0.0	.	93;93	O15266-2;O15266	.;SHOX_HUMAN	R	93	ENSP00000335505:G93R;ENSP00000370990:G93R;ENSP00000452016:G93R;ENSP00000370987:G93R	ENSP00000335505:G93R	G	+	1	0	SHOX	511909	1.000000	0.71417	0.159000	0.22649	0.020000	0.10135	6.881000	0.75584	0.764000	0.33197	0.275000	0.19346	GGG		0.647	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451	Missense_Mutation	A	591909	G	A	591909	5	1	55	1	0	0	0	0	0	0	1	0	14288	1014	35	3	279	3	SHOX	23	591909	Splice_Site	SNP	G	TCGA-06-0648-01A-01W-0323-08		591909	154678651	87	3529											
FOXR2	139628	broad.mit.edu	37	chrX	55650926	55650926	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagccttaaggatgaagAtaatgcaagacctcgctctt	14	9	9	9	1	1	4	0	1	1	3	2	5	1	5	2	1	2	2	2	1	4	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:55650926A>C	ENST00000339140.3	+	1	1094	c.782A>C	c.(781-783)gAt>gCt	p.D261A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	261					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGGATGAAGATAATGCAAGA	0.517																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(781-783)gAt>gCt		Homo sapiens forkhead box R2 (FOXR2), mRNA.							89	80	83					X																	55650926		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650926A>C	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.782A>C	X.37:g.55650926A>C	ENSP00000427329:p.Asp261Ala						p.D261A	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	1094	+			261						Missense_Mutation	SNP	ENST00000339140.3	37	c.782A>C	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.866641	0.00547	.	.	ENSG00000189299	ENST00000339140	D	0.95205	-3.64	3.37	0.4	0.16331	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	2.386240	0.01645	N	0.024271	T	0.81969	0.4935	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.77308	-0.2636	10	0.08837	T	0.75	.	1.2977	0.02073	0.2345:0.4235:0.2044:0.1377	.	261	Q6PJQ5	FOXR2_HUMAN	A	261	ENSP00000427329:D261A	ENSP00000427329:D261A	D	+	2	0	FOXR2	55667651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.655000	0.05348	-0.034000	0.13713	-0.269000	0.10298	GAT		0.517	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		C	55650926	A	C	55650926	3	2	55	1	0	0	0	0	1	0	0	0	6032	333	12	5	784	5	FOXR2	23	55650926	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	55059017	55650926	99619634	88	3530											
TMEM52	339456	broad.mit.edu	37	chr1	1849551	1849551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccaggtccagctcccCaaagggcaggggcaaccgca	10	3	14	14	1	0	0	0	0	0	0	3	1	3	1	5	5	2	4	5	5	2	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:1849551C>A	ENST00000310991.3	-	5	407	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TMEM52_ENST00000378602.3_Missense_Mutation_p.G119W	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	134						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGCTCCCCAAAGGGCAGG	0.637																																						uc001aij.2																			0				NS(1)|prostate(1)|stomach(1)	3						c.(400-402)Ggg>Tgg		Homo sapiens transmembrane protein 52 (TMEM52), mRNA.							73	73	73					1																	1849551		2203	4300	6503	SO:0001583	missense	339456					integral to membrane		g.chr1:1849551C>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.400G>T	1.37:g.1849551C>A	ENSP00000311122:p.Gly134Trp					TMEM52_uc001aii.2_Missense_Mutation_p.G119W	p.G134W	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	436	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	134					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.400G>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	9.132	1.011585	0.19277	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.32272	1.46;1.46	4.01	2.91	0.33838	.	0.316389	0.21275	N	0.077255	T	0.26412	0.0645	L	0.55481	1.735	0.33334	D	0.568994	B;P	0.35844	0.087;0.524	B;B	0.30179	0.04;0.112	T	0.43360	-0.9396	10	0.59425	D	0.04	-15.6195	11.0866	0.48091	0.2268:0.7732:0.0:0.0	.	134;119	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	W	119;134	ENSP00000367865:G119W;ENSP00000311122:G134W	ENSP00000311122:G134W	G	-	1	0	TMEM52	1839411	0.000000	0.05858	0.833000	0.33012	0.409000	0.31022	0.271000	0.18626	0.891000	0.36235	0.561000	0.74099	GGG		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		A	1849551	C	A	1849551	3	1	56	1	0	0	0	0	1	0	0	0	16175	594	21	5	233	5	TMEM52	1	1849551	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		1849551	247401070	1	3531											
ESPN	83715	broad.mit.edu	37	chr1	6517297	6517297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgcctggaggcgggacctCctgcggaagaagctggaaga	9	4	16	12	3	0	2	0	0	0	2	1	6	1	6	4	5	2	1	4	5	3	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:6517297C>T	ENST00000377828.1	+	11	2547	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	ESPN_ENST00000416731.1_Silent_p.L227L|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Silent_p.L227L	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	793	Glu-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGGGACCTCCTGCGGAAGA	0.642																																						uc001amy.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(2377-2379)ctC>ctT		Homo sapiens espin (ESPN), mRNA.							25	29	28					1																	6517297		2202	4300	6502	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6517297C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2379C>T	1.37:g.6517297C>T						ESPN_uc001amz.3_Silent_p.L227L	p.L793L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2547	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	793			Glu-rich.		Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.2379C>T	CCDS70.1	.	.	.	.	.	.	.	.	.	.	C	6.965	0.547948	0.13312	.	.	ENSG00000187017	ENST00000434576	.	.	.	5.08	2.1	0.27182	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51601	-0.8685	4	.	.	.	-6.9737	9.1575	0.37000	0.0:0.7468:0.0:0.2532	.	.	.	.	S	137	.	.	P	+	1	0	ESPN	6439884	1.000000	0.71417	0.677000	0.29947	0.581000	0.36288	2.235000	0.43044	0.514000	0.28300	-0.291000	0.09656	CCT		0.642	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		T	6517297	C	T	6517297	2	4	56	1	0	0	0	0	0	0	0	1	5254	842	30	3		3	ESPN	1	6517297	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	4667746	6517297	242733324	2	3532											
ZNF683	257101	broad.mit.edu	37	chr1	26691247	26691247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaggcagagcttggcCagaggcttggaaggcccctg	8	6	17	10	0	0	2	0	0	0	2	0	4	0	4	3	6	1	3	3	6	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:26691247C>T	ENST00000436292.1	-	4	910	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	ZNF683_ENST00000349618.3_Missense_Mutation_p.G264S|ZNF683_ENST00000403843.1_Missense_Mutation_p.G264S|ZNF683_ENST00000374204.1_Missense_Mutation_p.G264S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	264					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGCTTGGCCAGAGGCTTGG	0.647																																						uc001bmg.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(790-792)Ggc>Agc		Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.							36	40	38					1																	26691247		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691247C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.790G>A	1.37:g.26691247C>T	ENSP00000388792:p.Gly264Ser					ZNF683_uc001bmh.1_Missense_Mutation_p.G264S|ZNF683_uc009vsj.1_Missense_Mutation_p.G264S	p.G264S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	3	908	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	264					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.790G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.117503	0.77323	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801	T;T;T;T;T;T	0.25250	2.95;2.95;2.86;2.86;1.81;1.83	4.74	1.48	0.22813	.	0.303007	0.24128	N	0.041297	T	0.14098	0.0341	L	0.32530	0.975	0.09310	N	1	P;P	0.47350	0.879;0.894	B;B	0.41571	0.36;0.314	T	0.13656	-1.0501	10	0.11794	T	0.64	-8.0107	4.7261	0.12941	0.4128:0.4814:0.0:0.1058	.	264;264	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	S	264;264;264;264;272;264	ENSP00000384782:G264S;ENSP00000388792:G264S;ENSP00000363320:G264S;ENSP00000344095:G264S;ENSP00000411289:G272S;ENSP00000411290:G264S	ENSP00000344095:G264S	G	-	1	0	ZNF683	26563834	0.001000	0.12720	0.390000	0.26220	0.578000	0.36192	-0.382000	0.07408	0.571000	0.29365	0.561000	0.74099	GGC		0.647	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		T	26691247	C	T	26691247	3	4	56	1	0	0	0	0	1	0	0	0	18087	594	21	3	736	3	ZNF683	1	26691247	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	20173950	26691247	222559374	3	3533											
KPNA6	23633	broad.mit.edu	37	chr1	32620313	32620317	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-																															cagctccggaagcagaagcgAgagcaacaagtgagttaatg																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:32620313_32620317delAGAGC	ENST00000373625.3	+	2	222_226	c.129_133delAGAGC	c.(127-135)cgagagcaafs	p.EQ44fs	KPNA6_ENST00000545542.1_Frame_Shift_Del_p.EQ49fs|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Frame_Shift_Del_p.EQ41fs	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	44	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAAGCGAGAGCAACAAGTGAG	0.454																																						uc010ogy.2																			0				large_intestine(2)	2						c.(142-150)cgagagcaafs		Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.																																				SO:0001589	frameshift_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32620313_32620317delAGAGC	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.129_133delAGAGC	1.37:g.32620313_32620317delAGAGC	ENSP00000362728:p.Glu44fs					KPNA6_uc001bug.3_Frame_Shift_Del_p.R43fs|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Frame_Shift_Del_p.R40fs	p.R48fs	NM_012316	NP_036448	O60684	IMA7_HUMAN			1	171_175	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	43			IBB.		B2RDC7|D3DPP5|Q5VVU3	Frame_Shift_Del	DEL	ENST00000373625.3	37	c.144_148delAGAGC	CCDS352.1																																																																																				0.454	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		-	32620317	AGAGC	-	32620313	7	5	56	1	0	1	0	1	0	0	0	0	8434	291	11	0	135	0	KPNA6	1	32620313	Frame_Shift_Del	DEL	AGAGC	TCGA-06-0649-01B-01W-0348-08	5929066	32620313	216630308	4	3534											
CSMD2	114784	broad.mit.edu	37	chr1	34209005	34209005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggtgcccaggacGggcgcctcggcggtggcccc	5	4	17	15	4	0	1	0	1	0	1	1	3	0	2	5	6	1	0	5	6	1	0	rs141295499		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:34209005G>A	ENST00000373381.4	-	14	2225	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	643	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCAGGACGGGCGCCTCGG	0.612																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2047-2049)ccC>ccT		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	67	67	67		1929	-11.4	0	1	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		643/3488	34209005	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209005G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2049C>T	1.37:g.34209005G>A						CSMD2_uc001bxn.1_Silent_p.P643P	p.P683P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			13	2226	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	643			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2049C>T																																																																																					0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34209005	G	A	34209005	2	1	56	1	0	0	0	0	0	0	0	1	3945	1103	39	2		2	CSMD2	1	34209005	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	1588692	34209005	215041616	5	3535											
PTCH2	8643	broad.mit.edu	37	chr1	45307671	45307671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcaggccctggaagtaaGcacgaagccagagtggagcc	13	3	15	10	1	0	2	0	0	0	2	0	5	0	4	3	3	4	3	3	3	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:45307671G>C	ENST00000372192.3	-	2	243	c.113C>G	c.(112-114)gCt>gGt	p.A38G	PTCH2_ENST00000447098.2_Missense_Mutation_p.A38G	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	38					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGAAGTAAGCACGAAGCCA	0.552									Basal Cell Nevus syndrome																													uc010olf.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(112-114)gCt>gGt		Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.							99	100	100					1																	45307671		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307671G>C	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.113C>G	1.37:g.45307671G>C	ENSP00000361266:p.Ala38Gly					PTCH2_uc021omv.1_Missense_Mutation_p.A38G|PTCH2_uc010olg.2_5'UTR	p.A38G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			1	125	-	Acute lymphoblastic leukemia(166;0.155)		38					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.113C>G	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842863	0.91197	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	D	0.89822	0.6826	M	0.69185	2.1	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	D	0.90756	0.4661	10	0.62326	D	0.03	-1.0891	16.0996	0.81163	0.0:0.0:1.0:0.0	.	38	Q9Y6C5	PTC2_HUMAN	G	38	ENSP00000389703:A38G;ENSP00000361266:A38G	ENSP00000361266:A38G	A	-	2	0	PTCH2	45080258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.803000	0.91915	2.325000	0.78763	0.561000	0.74099	GCT		0.552	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		C	45307671	G	C	45307671	3	2	56	1	0	0	0	0	1	0	0	0	12731	971	34	5	3602	5	PTCH2	1	45307671	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	11098666	45307671	203942950	6	3536											
NBPF9	0	broad.mit.edu	37	chr1	144615193	144615193	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacattctagaaatcaaCgagaaattgcgcccccagtt	15	9	7	10	2	2	3	1	1	1	2	2	4	2	3	2	0	3	1	2	0	5	4	rs587649829	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:144615193C>T								RP11-640M9.2 (9302 upstream) : NBPF9 (196550 downstream)																							TAGAAATCAACGAGAAATTGC	0.522													.|||	24	0.00479233	0.0136	0.0043	5008	,	,		19159	0.002		0	False		,,,				2504	0.001					uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(61-63)aaC>aaT		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001628	intergenic_variant	400818							g.chr1:144615193C>T																													1.37:g.144615193C>T						NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	p.N21N	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	257	+	all_hematologic(923;0.032)		21						Silent	SNP		37	c.63C>T																																																																																				0	0.522									T	144615193	C	T	144615193	1	4	56	0	1	0	0	0	0	0	0	0	10199	535	19	1		1	NBPF9	1	144615193	IGR	SNP	C	TCGA-06-0649-01B-01W-0348-08	99307522	144615193	104635428	7	3537											
TCHH	7062	broad.mit.edu	37	chr1	152081057	152081057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgacgccgctgttgccCgcgctcctggcggcgcagct	2	8	14	17	6	0	1	0	1	0	0	2	1	2	1	4	2	2	5	4	2	0	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:152081057C>T	ENST00000368804.1	-	2	4635	c.4636G>A	c.(4636-4638)Ggg>Agg	p.G1546R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1546	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTGTTGCCCGCGCTCCTGG	0.617																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4636-4638)Ggg>Agg		Homo sapiens trichohyalin (TCHH), mRNA.							47	49	48					1																	152081057		1869	4098	5967	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081057C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4636G>A	1.37:g.152081057C>T	ENSP00000357794:p.Gly1546Arg					TCHH_uc001ezp.2_Missense_Mutation_p.G1546R	p.G1546R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4908	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1546			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4636G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	8.384	0.838220	0.16891	.	.	ENSG00000159450	ENST00000368804	T	0.04502	3.61	3.05	3.05	0.35203	.	.	.	.	.	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.46062	-0.9218	9	0.17369	T	0.5	-2.8175	12.1201	0.53887	0.0:1.0:0.0:0.0	.	1546	Q07283	TRHY_HUMAN	R	1546	ENSP00000357794:G1546R	ENSP00000357794:G1546R	G	-	1	0	TCHH	150347681	0.003000	0.15002	0.007000	0.13788	0.050000	0.14768	0.646000	0.24797	1.775000	0.52247	0.441000	0.28932	GGG		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081057	C	T	152081057	3	4	56	1	0	0	0	0	1	0	0	0	15697	652	23	2	1199	2	TCHH	1	152081057	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7465864	152081057	97169564	8	3538											
SLAMF8	56833	broad.mit.edu	37	chr1	159802791	159802791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaataacctatagctggCgacgggagacaaccatggac	14	5	12	10	3	0	1	0	0	0	1	0	5	0	2	2	3	3	1	2	3	5	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:159802791C>T	ENST00000289707.5	+	3	642	c.493C>T	c.(493-495)Cga>Tga	p.R165*	SLAMF8_ENST00000368104.4_Nonsense_Mutation_p.R56*|C1orf204_ENST00000491974.1_5'Flank|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTATAGCTGGCGACGGGAGAC	0.537																																						uc001fue.4																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(493-495)Cga>Tga		Homo sapiens SLAM family member 8 (SLAMF8), mRNA.							107	103	104					1																	159802791		2203	4300	6503	SO:0001587	stop_gained	56833					integral to membrane		g.chr1:159802791C>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.493C>T	1.37:g.159802791C>T	ENSP00000289707:p.Arg165*						p.R165*	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN			2	703	+	all_hematologic(112;0.0597)		165			Ig-like C2-type.		Q32MC6|Q5VU15	Nonsense_Mutation	SNP	ENST00000289707.5	37	c.493C>T	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523413	0.96431	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	.	.	.	4.6	4.6	0.57074	.	0.908506	0.09387	N	0.809089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.4824	12.8008	0.57584	0.0:1.0:0.0:0.0	.	.	.	.	X	165;56	.	ENSP00000289707:R165X	R	+	1	2	SLAMF8	158069415	0.743000	0.28239	0.999000	0.59377	0.437000	0.31866	0.930000	0.28858	2.378000	0.81104	0.650000	0.86243	CGA		0.537	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		T	159802791	C	T	159802791	4	4	56	1	0	0	0	0	0	1	0	0	14370	760	27	1	503	1	SLAMF8	1	159802791	Nonsense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7721734	159802791	89447830	9	3539											
SOAT1	6646	broad.mit.edu	37	chr1	179310266	179310266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacattttcagttccctatTttctgtttcaacattgggcc	7	18	5	11	0	3	0	2	0	1	0	4	0	4	0	2	1	2	2	2	1	3	9			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:179310266T>G	ENST00000367619.3	+	7	744	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.F136V|SOAT1_ENST00000540564.1_Missense_Mutation_p.F143V	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	201					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCCCTATTTTCTGTTTCA	0.448																																						uc001gml.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(601-603)Ttt>Gtt		Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Ezetimibe(DB00973)|Hesperetin(DB01094)						205	189	195					1																	179310266		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310266T>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.601T>G	1.37:g.179310266T>G	ENSP00000356591:p.Phe201Val					SOAT1_uc010pni.2_Missense_Mutation_p.F136V|SOAT1_uc001gmm.3_Missense_Mutation_p.F143V|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.F136V	p.F201V	NM_003101	NP_003092	P35610	SOAT1_HUMAN			6	832	+			201					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.601T>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	T	9.257	1.042349	0.19748	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.96	1.98	0.26296	.	0.414232	0.27961	N	0.017153	T	0.44371	0.1290	N	0.10837	0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.16394	-1.0404	10	0.17369	T	0.5	-14.9774	7.0922	0.25289	0.1243:0.0:0.3128:0.5629	.	143;201	A8K3P4;P35610	.;SOAT1_HUMAN	V	136;143;201;201	ENSP00000441356:F136V;ENSP00000445315:F143V;ENSP00000356591:F201V;ENSP00000411309:F201V	ENSP00000356591:F201V	F	+	1	0	SOAT1	177576889	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	1.011000	0.29911	1.027000	0.39758	0.533000	0.62120	TTT		0.448	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		G	179310266	T	G	179310266	3	3	56	1	0	0	0	0	1	0	0	0	14910	1841	64	5	623	5	SOAT1	1	179310266	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	19507475	179310266	69940355	10	3540											
HMCN1	83872	broad.mit.edu	37	chr1	186088926	186088926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactacacgtcattctgaaCaatcctattttattaccatg	13	14	4	10	1	2	1	1	1	1	0	3	2	3	1	2	0	4	0	2	0	7	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:186088926C>T	ENST00000271588.4	+	79	12235	c.12006C>T	c.(12004-12006)aaC>aaT	p.N4002N	HMCN1_ENST00000367492.2_Silent_p.N4002N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4002	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATTCTGAACAATCCTATTT	0.388																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12004-12006)aaC>aaT		Homo sapiens hemicentin 1 (HMCN1), mRNA.							98	92	94					1																	186088926		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088926C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12006C>T	1.37:g.186088926C>T						MIR548F1_uc021pgf.1_Intron	p.N4002N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			78	12235	+			4002			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.12006C>T	CCDS30956.1																																																																																				0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186088926	C	T	186088926	2	4	56	1	0	0	0	0	0	0	0	1	7220	477	17	3		3	HMCN1	1	186088926	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	6778660	186088926	63161695	11	3541											
LBR	3930	broad.mit.edu	37	chr1	225598033	225598033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacatagagaagctggaaaCtattaactaaaatcatggcc	17	8	7	9	0	1	1	1	0	0	1	1	3	1	2	2	2	3	1	2	2	7	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:225598033C>T	ENST00000338179.2	-	10	1399	c.1274G>A	c.(1273-1275)aGt>aAt	p.S425N	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.S425N	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	425					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGCTGGAAACTATTAACTAA	0.443																																						uc001hoy.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1273-1275)aGt>aAt		Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.							126	123	124					1																	225598033		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598033C>T	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1274G>A	1.37:g.225598033C>T	ENSP00000339883:p.Ser425Asn					LBR_uc001hoz.3_Missense_Mutation_p.S425N	p.S425N	NM_002296	NP_919424	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	9	1448	-	Breast(184;0.165)		425					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1274G>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712496	0.68730	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.99220	-4.21;-4.21;-5.58	5.87	5.87	0.94306	.	0.175856	0.64402	D	0.000010	D	0.99190	0.9719	M	0.74258	2.255	0.38105	D	0.937386	D	0.58970	0.984	P	0.56865	0.808	D	0.99934	1.1342	10	0.33940	T	0.23	-19.7459	20.5827	0.99408	0.0:1.0:0.0:0.0	.	425	Q14739	LBR_HUMAN	N	425;425;56	ENSP00000272163:S425N;ENSP00000339883:S425N;ENSP00000397817:S56N	ENSP00000272163:S425N	S	-	2	0	LBR	223664656	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.402000	0.44521	2.941000	0.99782	0.655000	0.94253	AGT		0.443	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		T	225598033	C	T	225598033	3	4	56	1	0	0	0	0	1	0	0	0	8652	565	20	3	593	3	LBR	1	225598033	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	39509107	225598033	23652588	12	3542											
CRIM1	51232	broad.mit.edu	37	chr2	36740894	36740894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccctggacagtgctGcccatcatgtgcaggtaaaa	11	9	9	12	0	2	0	2	0	0	0	2	1	2	1	2	2	3	3	2	2	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:36740894G>A	ENST00000280527.2	+	11	2343	c.1976G>A	c.(1975-1977)tGc>tAc	p.C659Y	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	659	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGACAGTGCTGCCCATCATGT	0.562																																						uc002rpd.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1975-1977)tGc>tAc		Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.							52	48	49					2																	36740894		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36740894G>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1976G>A	2.37:g.36740894G>A	ENSP00000280527:p.Cys659Tyr						p.C659Y	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			10	2042	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	659			VWFC 3.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1976G>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413444	0.83449	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	D;T	0.92199	-2.99;-0.91	5.28	5.28	0.74379	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99387	1.0924	10	0.87932	D	0	-13.7632	17.9368	0.89014	0.0:0.0:1.0:0.0	.	659	Q9NZV1	CRIM1_HUMAN	Y	659;21	ENSP00000280527:C659Y;ENSP00000403120:C21Y	ENSP00000280527:C659Y	C	+	2	0	CRIM1	36594398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.479000	0.83701	0.655000	0.94253	TGC		0.562	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		A	36740894	G	A	36740894	3	1	56	1	0	0	0	0	1	0	0	0	3873	1319	46	3	2018	3	CRIM1	2	36740894	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		36740894	206458479	13	3543											
ZNF638	27332	broad.mit.edu	37	chr2	71592818	71592818	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggtgtctgataaagcTgtttctctccagcgaaaggt	12	11	10	8	1	2	1	0	1	2	0	4	2	3	1	1	2	3	2	1	2	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:71592818T>G	ENST00000409544.1	+	6	2607	c.1977T>G	c.(1975-1977)gcT>gcG	p.A659A	ZNF638_ENST00000377802.2_Silent_p.A659A|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.A659A|ZNF638_ENST00000355812.3_Silent_p.A659A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	659					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATAAAGCTGTTTCTCTCC	0.363																																						uc002shx.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1975-1977)gcT>gcG		Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.							37	37	37					2																	71592818		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71592818T>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1977T>G	2.37:g.71592818T>G						ZNF638_uc010fec.2_Silent_p.A765A|ZNF638_uc010yqw.1_Silent_p.A238A|ZNF638_uc002shw.3_Silent_p.A659A|ZNF638_uc002shz.3_Silent_p.A659A|ZNF638_uc002shy.3_Silent_p.A659A|ZNF638_uc002sia.3_Silent_p.A659A|ZNF638_uc002sib.1_Silent_p.A659A	p.A659A	NM_014497	NP_055312	Q14966	ZN638_HUMAN			5	2300	+			659					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.1977T>G	CCDS1917.1																																																																																				0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		G	71592818	T	G	71592818	2	3	56	1	0	0	0	0	0	0	0	1	18052	1567	55	5		5	ZNF638	2	71592818	Silent	SNP	T	TCGA-06-0649-01B-01W-0348-08	34851924	71592818	171606555	14	3544											
SLC9A2	6549	broad.mit.edu	37	chr2	103324656	103324656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccaggcgcttcttgcCagaacagttctccaagaaat	12	8	9	12	1	2	3	0	0	2	3	3	3	2	3	3	1	3	2	3	1	3	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:103324656C>A	ENST00000233969.2	+	12	2289	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	716					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCTTCTTGCCAGAACAGTTC	0.527																																						uc002tca.3																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2146-2148)cCa>cAa		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.							85	95	91					2																	103324656		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324656C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2147C>A	2.37:g.103324656C>A	ENSP00000233969:p.Pro716Gln						p.P716Q	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			11	2289	+			716					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2147C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440940	0.25900	.	.	ENSG00000115616	ENST00000233969	T	0.54279	0.58	5.48	3.22	0.36961	.	0.725238	0.13596	N	0.376202	T	0.27241	0.0668	N	0.14661	0.345	0.25947	N	0.982795	B	0.06786	0.001	B	0.04013	0.001	T	0.14504	-1.0470	10	0.13853	T	0.58	.	2.1826	0.03879	0.1833:0.4816:0.208:0.1271	.	716	Q9UBY0	SL9A2_HUMAN	Q	716	ENSP00000233969:P716Q	ENSP00000233969:P716Q	P	+	2	0	SLC9A2	102691088	0.730000	0.28100	1.000000	0.80357	0.950000	0.60333	0.660000	0.25009	1.370000	0.46153	0.655000	0.94253	CCA		0.527	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			A	103324656	C	A	103324656	3	1	56	1	0	0	0	0	1	0	0	0	14712	594	21	5	2193	5	SLC9A2	2	103324656	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	31731838	103324656	139874717	15	3545											
UGGT1	56886	broad.mit.edu	37	chr2	128867271	128867271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtgcatggaaagaagActtgtgaatctgataccctt	12	13	9	7	0	2	4	1	2	1	2	2	5	2	5	1	1	2	1	1	1	4	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:128867271A>G	ENST00000259253.6	+	5	519	c.472A>G	c.(472-474)Act>Gct	p.T158A	UGGT1_ENST00000375990.3_Missense_Mutation_p.T134A	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	158					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAAAGAAGACTTGTGAATC	0.388																																						uc002tps.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(472-474)Act>Gct		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.							198	181	187					2																	128867271		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128867271A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.472A>G	2.37:g.128867271A>G	ENSP00000259253:p.Thr158Ala					UGGT1_uc010fme.1_Missense_Mutation_p.T33A|UGGT1_uc002tpr.3_Missense_Mutation_p.T134A	p.T158A	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			4	650	+			158					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.472A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	9.399	1.077513	0.20227	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.07567	3.18;3.18	5.5	4.34	0.51931	.	0.048775	0.85682	N	0.000000	T	0.08133	0.0203	L	0.43923	1.385	0.43222	D	0.995102	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.18681	-1.0329	10	0.21540	T	0.41	.	11.2645	0.49101	0.9274:0.0:0.0726:0.0	.	134;158	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	A	134;158	ENSP00000365158:T134A;ENSP00000259253:T158A	ENSP00000259253:T158A	T	+	1	0	UGGT1	128583741	1.000000	0.71417	0.998000	0.56505	0.375000	0.29983	3.651000	0.54431	1.021000	0.39600	0.482000	0.46254	ACT		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		G	128867271	A	G	128867271	3	3	56	1	0	0	0	0	1	0	0	0	16938	275	10	4	490	4	UGGT1	2	128867271	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	25542615	128867271	114332102	16	3546											
TTN	7273	broad.mit.edu	37	chr2	179641950	179641950	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagggttggggttaccCgtagctctgactttcatttc	6	15	11	9	1	3	1	2	1	1	0	4	1	3	1	1	3	2	4	1	3	2	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:179641950C>A	ENST00000591111.1	-	27	4964	c.4740G>T	c.(4738-4740)acG>acT	p.T1580T	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T1534T|TTN_ENST00000460472.2_Silent_p.T1534T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T1580T|TTN_ENST00000360870.5_Silent_p.T1580T|TTN_ENST00000342175.6_Silent_p.T1534T|TTN_ENST00000589042.1_Silent_p.T1580T			Q8WZ42	TITIN_HUMAN	titin	12437	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T1580T(3)|p.T1534T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGTTACCCGTAGCTCTGA	0.373																																						uc021vsy.1																			6	Substitution - coding silent(6)	p.T1580T(3)|p.T1534T(3)	lung(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(4738-4740)acG>acT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							169	163	165					2																	179641950		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641950C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4740G>T	2.37:g.179641950C>A						TTN_uc021vsz.1_Silent_p.T1534T|TTN_uc021vta.1_Silent_p.T1534T|TTN_uc021vtb.1_Silent_p.T1534T|TTN_uc002unb.2_Silent_p.T1580T|AK123298_uc002unc.1_Non-coding_Transcript	p.T1580T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		26	4965	-			1580			Ig-like 7.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.4740G>T																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179641950	C	A	179641950	2	1	56	1	0	0	0	0	0	0	0	1	16732	639	23	5		5	TTN	2	179641950	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	50774679	179641950	63557423	17	3547											
PTH2R	5746	broad.mit.edu	37	chr2	209308179	209308179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtagtccatgctcacataGgagtaaaggagctggagtcc	12	8	13	8	0	1	0	1	0	0	0	3	4	3	3	2	3	2	4	2	3	4	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:209308179G>C	ENST00000272847.2	+	6	829	c.616G>C	c.(616-618)Gga>Cga	p.G206R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	206					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGCTCACATAGGAGTAAAGGA	0.413																																						uc010zjb.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(649-651)Gga>Cga		Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.							142	130	134					2																	209308179		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308179G>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.616G>C	2.37:g.209308179G>C	ENSP00000272847:p.Gly206Arg					PTH2R_uc002vdb.3_Missense_Mutation_p.G206R	p.G217R	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	5	935	+			206					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.649G>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983229	0.35036	.	.	ENSG00000144407	ENST00000272847	T	0.44881	0.91	5.29	3.4	0.38934	GPCR, family 2-like (1);	0.281562	0.24604	N	0.037110	T	0.33673	0.0871	L	0.39898	1.24	0.34902	D	0.746608	B;B	0.20459	0.006;0.045	B;B	0.23852	0.022;0.049	T	0.34329	-0.9833	10	0.42905	T	0.14	.	9.9521	0.41645	0.0:0.1508:0.6928:0.1564	.	95;206	B4DFN8;P49190	.;PTH2R_HUMAN	R	206	ENSP00000272847:G206R	ENSP00000272847:G206R	G	+	1	0	PTH2R	209016424	1.000000	0.71417	0.025000	0.17156	0.050000	0.14768	4.993000	0.63895	0.548000	0.28955	0.585000	0.79938	GGA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		C	209308179	G	C	209308179	3	2	56	1	0	0	0	0	1	0	0	0	12760	1001	35	5	638	5	PTH2R	2	209308179	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	29666229	209308179	33891194	18	3548											
TRPM8	79054	broad.mit.edu	37	chr2	234869493	234869493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtccgcctctttctggAgaatggcttgaacctacgga	7	13	11	10	2	2	2	0	1	2	1	3	4	3	3	3	3	2	2	3	3	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:234869493A>G	ENST00000324695.4	+	12	1476	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	TRPM8_ENST00000433712.2_Missense_Mutation_p.E167G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	479					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTTTCTGGAGAATGGCTTG	0.483																																						uc002vvh.3																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1435-1437)gAg>gGg		Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	Menthol(DB00825)						110	99	102					2																	234869493		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234869493A>G	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1436A>G	2.37:g.234869493A>G	ENSP00000323926:p.Glu479Gly					TRPM8_uc010fyj.3_Missense_Mutation_p.E167G	p.E479G	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	11	1476	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	479					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1436A>G	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683264	0.88542	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.36699	1.24;1.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.83012	2.62	0.51233	D	0.999912	D;D	0.76494	0.998;0.999	D;D	0.80764	0.968;0.994	T	0.69292	-0.5183	10	0.87932	D	0	-37.948	14.9789	0.71296	1.0:0.0:0.0:0.0	.	167;479	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	G	479;167	ENSP00000323926:E479G;ENSP00000404423:E167G	ENSP00000323926:E479G	E	+	2	0	TRPM8	234534232	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.711000	0.84669	2.209000	0.71365	0.533000	0.62120	GAG		0.483	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		G	234869493	A	G	234869493	3	3	56	1	0	0	0	0	1	0	0	0	16589	304	11	4	1478	4	TRPM8	2	234869493	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	25561314	234869493	8329880	19	3549											
COL6A3	1293	broad.mit.edu	37	chr2	238283454	238283454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcagctggcggacagCgttgacgacgtcctgcttgt	6	9	15	11	4	1	1	1	1	0	0	2	3	2	2	1	3	3	3	1	3	0	2	rs369460632		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:238283454C>T	ENST00000295550.4	-	8	3732	c.3280G>A	c.(3280-3282)Gct>Act	p.A1094T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A487T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A893T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A894T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A687T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A888T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A888T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A888T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1094	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCGGACAGCGTTGACGACG	0.652																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3280-3282)Gct>Act		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							63	62	62					2																	238283454		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283454C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3280G>A	2.37:g.238283454C>T	ENSP00000295550:p.Ala1094Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.3_Missense_Mutation_p.A888T|COL6A3_uc002vwr.3_Missense_Mutation_p.A687T	p.A1094T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3565	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1094			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3280G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203403	0.38905	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.118614	0.37623	N	0.002018	D	0.93798	0.8017	M	0.88181	2.935	0.34688	D	0.725418	D;D;D;D;P	0.89917	1.0;0.998;0.999;1.0;0.814	D;D;D;D;B	0.85130	0.997;0.958;0.983;0.992;0.246	D	0.96305	0.9224	10	0.59425	D	0.04	.	19.4129	0.94683	0.0:1.0:0.0:0.0	.	487;687;888;888;1094	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	T	1094;893;888;487;888;894;888;687	ENSP00000295550:A1094T;ENSP00000315609:A893T;ENSP00000315873:A888T;ENSP00000418285:A487T;ENSP00000386844:A888T;ENSP00000295546:A894T;ENSP00000375861:A888T;ENSP00000375860:A687T	ENSP00000295550:A1094T	A	-	1	0	COL6A3	237948193	0.048000	0.20356	0.172000	0.22920	0.006000	0.05464	1.552000	0.36244	2.652000	0.90054	0.655000	0.94253	GCT		0.652	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238283454	C	T	238283454	3	4	56	1	0	0	0	0	1	0	0	0	3701	768	27	1	6448	1	COL6A3	2	238283454	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	3413961	238283454	4915919	20	3550											
TGFBR2	7048	broad.mit.edu	37	chr3	30691812	30691812	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagtttgccatgaccccaAgctcccctaccatgacttta	10	10	6	15	0	0	2	0	2	0	0	1	3	1	2	6	0	3	2	6	0	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:30691812A>T	ENST00000295754.5	+	3	696	c.314A>T	c.(313-315)aAg>aTg	p.K105M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K130M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	105					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATGACCCCAAGCTCCCCTAC	0.443																																						uc003ceo.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(313-315)aAg>aTg		Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.							111	108	109					3																	30691812		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691812A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.314A>T	3.37:g.30691812A>T	ENSP00000295754:p.Lys105Met					TGFBR2_uc021wut.1_5'UTR|TGFBR2_uc003cen.3_Missense_Mutation_p.K130M	p.K105M	NM_003242	NP_003233	P37173	TGFR2_HUMAN			2	696	+			105					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.314A>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.978571	0.34942	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.83335	-1.71;-1.71	5.97	-0.859	0.10685	Transforming growth factor beta receptor 2 ectodomain (1);	1.019500	0.07770	N	0.951594	T	0.78805	0.4341	L	0.36672	1.1	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.37451	0.202;0.25	T	0.69705	-0.5073	10	0.51188	T	0.08	.	7.3818	0.26859	0.347:0.429:0.224:0.0	.	105;130	P37173;D2JYI1	TGFR2_HUMAN;.	M	105;130	ENSP00000295754:K105M;ENSP00000351905:K130M	ENSP00000295754:K105M	K	+	2	0	TGFBR2	30666816	0.000000	0.05858	0.018000	0.16275	0.946000	0.59487	0.276000	0.18716	-0.088000	0.12506	-0.274000	0.10170	AAG		0.443	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			T	30691812	A	T	30691812	3	4	56	1	0	0	0	0	1	0	0	0	15819	72	3	5	403	5	TGFBR2	3	30691812	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08		30691812	167330618	21	3551											
KBTBD5	131377	broad.mit.edu	37	chr3	42729720	42729720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagaagctctcaactcCatctacgtggtcggtggcag	8	9	13	11	2	2	1	1	0	2	1	5	2	3	1	1	4	3	2	1	4	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:42729720C>T	ENST00000287777.4	+	2	1339	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	413					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CTCTCAACTCCATCTACGTGG	0.637																																						uc003clv.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1237-1239)tcC>tcT		Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.							60	57	58					3																	42729720		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42729720C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1239C>T	3.37:g.42729720C>T							p.S413S	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	1339	+			413					Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1239C>T	CCDS2703.1																																																																																				0.637	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		T	42729720	C	T	42729720	2	4	56	1	0	0	0	0	0	0	0	1	7996	581	21	3		3	KBTBD5	3	42729720	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	12037908	42729720	155292710	22	3552											
MORC1	27136	broad.mit.edu	37	chr3	108819325	108819325	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagccgttttttggatcGtccaaagtaaatgatgtctg	10	14	10	7	2	1	2	0	2	1	0	3	3	2	3	2	1	1	2	2	1	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:108819325G>T	ENST00000483760.1	-	5	296	c.253C>A	c.(253-255)Cga>Aga	p.R85R	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Silent_p.R85R					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTGGATCGTCCAAAGTAA	0.408																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(253-255)Cga>Aga		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							175	175	175					3																	108819325		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819325G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.253C>A	3.37:g.108819325G>T						MORC1_uc011bhn.2_Silent_p.R85R	p.R85R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			4	340	-			85						Silent	SNP	ENST00000483760.1	37	c.253C>A																																																																																					0.408	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			T	108819325	G	T	108819325	2	4	56	1	0	0	0	0	0	0	0	1	9701	1153	40	5		5	MORC1	3	108819325	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	66089605	108819325	89203105	23	3553											
RFC4	5984	broad.mit.edu	37	chr3	186508171	186508173	+	In_Frame_Del	DEL	CAT	CAT	-																															ctgacaggcagcaaatactcCatcaattttctcagctggta																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:186508171_186508173delCAT	ENST00000392481.2	-	9	1105_1107	c.824_826delATG	c.(823-828)gatgga>gga	p.D275del	RFC4_ENST00000433496.1_Intron|RFC4_ENST00000296273.2_In_Frame_Del_p.D275del|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	275					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D275G(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAAATACTCCATCAATTTTCTC	0.424																																						uc003fqz.3																			1	Substitution - Missense(1)	p.D275G(2)	kidney(1)	breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(823-828)gatgga>gga		Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186508171_186508173delCAT		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.824_826delATG	3.37:g.186508171_186508173delCAT	ENSP00000376272:p.Asp275del					RFC4_uc011bsc.2_In_Frame_Del_p.D275del	p.D275del	NM_002916	NP_853551	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	8	1047_1049	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		275					B4DM41|D3DNV2|Q6FHX7	In_Frame_Del	DEL	ENST00000392481.2	37	c.824_826delATG	CCDS3283.1																																																																																				0.424	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		-	186508173	CAT	-	186508171	7	5	56	1	0	1	0	1	0	0	0	0	13247	603	21	0	277	0	RFC4	3	186508171	In_Frame_Del	DEL	CAT	TCGA-06-0649-01B-01W-0348-08	77688846	186508171	11514259	24	3554											
FBXL5	26234	broad.mit.edu	37	chr4	15632339	15632339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgaaaagcacgacttTcatctttcctatttttcacc	11	15	3	12	1	4	1	3	1	1	0	5	2	5	1	2	0	1	1	2	0	3	5	rs370721474		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:15632339T>G	ENST00000341285.3	-	6	966	c.842A>C	c.(841-843)gAa>gCa	p.E281A	FBXL5_ENST00000382358.4_Missense_Mutation_p.E155A|FBXL5_ENST00000412094.2_Missense_Mutation_p.E264A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	281					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCACGACTTTCATCTTTCCT	0.343																																						uc003goc.2																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(841-843)gAa>gCa		Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.							129	111	117					4																	15632339		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15632339T>G	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.842A>C	4.37:g.15632339T>G	ENSP00000344866:p.Glu281Ala					FBXL5_uc010idw.2_Missense_Mutation_p.E194A|FBXL5_uc003gob.2_Missense_Mutation_p.E143A|FBXL5_uc010idx.2_Missense_Mutation_p.E280A|FBXL5_uc003god.2_Missense_Mutation_p.E264A|FBXL5_uc010idy.2_Missense_Mutation_p.E281A	p.E281A	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			5	967	-			281					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.842A>C	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.792981|4.792981	0.90453|0.90453	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.21932|.	1.98;1.98;1.98|.	5.4|5.4	5.4|5.4	0.78164|0.78164	F-box domain, Skp2-like (1);|.	0.044888|.	0.85682|.	D|.	0.000000|.	T|.	0.70509|.	0.3232|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|.	0.69320|.	-0.5176|.	10|.	0.52906|.	T|.	0.07|.	-21.4002|-21.4002	15.7276|15.7276	0.77774|0.77774	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	264;281|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	A|C	281;264;155|201	ENSP00000344866:E281A;ENSP00000408679:E264A;ENSP00000371795:E155A|.	ENSP00000344866:E281A|.	E|X	-|-	2|3	0|0	FBXL5|FBXL5	15241437|15241437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.438000|7.438000	0.80431|0.80431	2.159000|2.159000	0.67721|0.67721	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.343	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			G	15632339	T	G	15632339	3	3	56	1	0	0	0	0	1	0	0	0	5722	1783	62	5	1257	5	FBXL5	4	15632339	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		15632339	175521937	25	3555											
CLOCK	9575	broad.mit.edu	37	chr4	56336906	56336906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatgttcaagtaatgaaGttacactctcagacacatat	16	12	6	7	0	2	2	2	1	1	1	3	2	2	2	0	0	1	4	0	0	7	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:56336906G>T	ENST00000309964.4	-	7	666	c.416C>A	c.(415-417)aCt>aAt	p.T139N	CLOCK_ENST00000381322.1_Missense_Mutation_p.T139N|CLOCK_ENST00000513440.1_Missense_Mutation_p.T139N	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	139	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AAGTAATGAAGTTACACTCTC	0.299																																						uc003haz.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(415-417)aCt>aAt		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.							92	98	96					4																	56336906		2201	4299	6500	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336906G>T	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.416C>A	4.37:g.56336906G>T	ENSP00000308741:p.Thr139Asn					CLOCK_uc003hba.1_Missense_Mutation_p.T139N	p.T139N	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		8	1342	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		139			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.416C>A	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156591	0.94686	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.18174	2.23;2.23;2.23	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.55213	1.73	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	T	0.04796	-1.0926	10	0.72032	D	0.01	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	139	O15516	CLOCK_HUMAN	N	139	ENSP00000308741:T139N;ENSP00000370723:T139N;ENSP00000426983:T139N	ENSP00000308741:T139N	T	-	2	0	CLOCK	56031663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.789000	0.95967	0.591000	0.81541	ACT		0.299	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		T	56336906	G	T	56336906	3	4	56	1	0	0	0	0	1	0	0	0	3549	1029	36	5	2188	5	CLOCK	4	56336906	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	40704567	56336906	134817370	26	3556											
UGT2B7	7364	broad.mit.edu	37	chr4	69962642	69962642	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtagtttcaaataagaAatttatgaaaaaagtacaag	21	11	7	2	0	1	3	1	1	0	2	1	3	1	3	0	0	1	3	0	0	10	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:69962642A>T	ENST00000508661.1	+	1	431	c.404A>T	c.(403-405)aAa>aTa	p.K135I	UGT2B7_ENST00000305231.7_Missense_Mutation_p.K135I|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	135					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCAAATAAGAAATTTATGAAA	0.313																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(403-405)aAa>aTa		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							64	66	65					4																	69962642		2200	4299	6499	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962642A>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.404A>T	4.37:g.69962642A>T	ENSP00000427659:p.Lys135Ile					UGT2B7_uc010ihq.3_Missense_Mutation_p.K135I	p.K135I	NM_001074	NP_001065	P16662	UD2B7_HUMAN			0	450	+			135					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.404A>T		.	.	.	.	.	.	.	.	.	.	A	14.25	2.480640	0.44044	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61158	0.13;0.13	2.54	-0.439	0.12264	.	0.815270	0.10650	U	0.650037	T	0.74015	0.3661	M	0.90369	3.11	0.09310	N	1	P;B	0.48764	0.915;0.166	P;B	0.61201	0.885;0.128	T	0.62062	-0.6933	9	.	.	.	.	5.9501	0.19242	0.7288:0.0:0.2712:0.0	.	135;135	E9PBP8;P16662	.;UD2B7_HUMAN	I	135	ENSP00000304811:K135I;ENSP00000427659:K135I	.	K	+	2	0	UGT2B7	69997231	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	0.312000	0.19397	-0.192000	0.10432	0.260000	0.18958	AAA		0.313	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		T	69962642	A	T	69962642	3	4	56	1	0	0	0	0	1	0	0	0	16959	14	1	5	406	5	UGT2B7	4	69962642	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	13625736	69962642	121191634	27	3557											
UGT2B4	7363	broad.mit.edu	37	chr4	70351106	70351106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcctcatagatgccattgGctccaccatgagttataaaa	12	12	7	10	0	1	2	1	1	0	1	2	2	2	2	4	1	2	2	4	1	4	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:70351106G>T	ENST00000305107.6	-	5	1176	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.A241D|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	377					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GATGCCATTGGCTCCACCATG	0.413																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1129-1131)gCc>gAc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							131	134	133					4																	70351106		2203	4298	6501	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351106G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1130C>A	4.37:g.70351106G>T	ENSP00000305221:p.Ala377Asp					UGT2B4_uc011cap.2_Missense_Mutation_p.A241D|UGT2B4_uc003hel.4_Intron	p.A377D	NM_021139	NP_066962	P06133	UD2B4_HUMAN			4	1177	-			377					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1130C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	6.258	0.415700	0.11870	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.63417	-0.04;3.25	1.96	0.148	0.14843	.	0.073888	0.52532	U	0.000067	T	0.60779	0.2295	M	0.86178	2.8	0.09310	N	1	B;P	0.42161	0.452;0.772	B;B	0.40982	0.328;0.345	T	0.58002	-0.7713	10	0.87932	D	0	.	5.8662	0.18777	0.3138:0.0:0.6862:0.0	.	241;377	A6NCP7;P06133	.;UD2B4_HUMAN	D	377;241	ENSP00000305221:A377D;ENSP00000370486:A241D	ENSP00000305221:A377D	A	-	2	0	UGT2B4	70385695	0.731000	0.28111	0.018000	0.16275	0.054000	0.15201	3.940000	0.56599	0.008000	0.14787	0.305000	0.20034	GCC		0.413	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		T	70351106	G	T	70351106	3	4	56	1	0	0	0	0	1	0	0	0	16958	1203	42	5	464	5	UGT2B4	4	70351106	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	388464	70351106	120803170	28	3558											
ANK2	287	broad.mit.edu	37	chr4	114274747	114274747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagagcagctgcagacagTtcaagataaggcagggaaga	17	4	13	7	0	1	4	1	0	0	4	1	5	1	5	0	2	3	5	0	2	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:114274747T>C	ENST00000357077.4	+	38	5026	c.4973T>C	c.(4972-4974)gTt>gCt	p.V1658A	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V1625A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1658					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCAGACAGTTCAAGATAAG	0.473																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4972-4974)gTt>gCt		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							81	81	81					4																	114274747		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274747T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4973T>C	4.37:g.114274747T>C	ENSP00000349588:p.Val1658Ala					ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	p.V1658A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	37	5073	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1625					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4973T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.791473	0.00623	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.65732	0.08;-0.04;-0.17;-0.17	5.29	-8.78	0.00824	.	1.852170	0.03076	N	0.157916	T	0.21468	0.0517	N	0.01003	-1.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16335	-1.0406	10	0.15066	T	0.55	.	0.7903	0.01056	0.1888:0.2294:0.2832:0.2986	.	1625;1658	Q01484;Q01484-4	ANK2_HUMAN;.	A	1571;1673;1658;1625	ENSP00000421011:V1571A;ENSP00000424722:V1673A;ENSP00000349588:V1658A;ENSP00000264366:V1625A	ENSP00000264366:V1625A	V	+	2	0	ANK2	114494196	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-1.227000	0.02950	-1.173000	0.02758	0.533000	0.62120	GTT		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114274747	T	C	114274747	3	2	56	1	0	0	0	0	1	0	0	0	621	1725	60	4	5188	4	ANK2	4	114274747	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	43923641	114274747	76879529	29	3559											
CTNND2	1501	broad.mit.edu	37	chr5	11236806	11236806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaaggagcactgacctcGgctttaattttgttgtctcc	8	14	8	11	1	1	1	0	1	1	0	4	2	2	2	3	2	1	3	3	2	2	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:11236806G>A	ENST00000304623.8	-	10	1947	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	CTNND2_ENST00000458100.2_Silent_p.A153A|CTNND2_ENST00000503622.1_Silent_p.A249A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.A495A|CTNND2_ENST00000359640.2_Silent_p.A586A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	586					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443																																						uc003jfa.1																			0		p.A586T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1756-1758)gcC>gcT		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							110	117	115					5																	11236806		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236806G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1758C>T	5.37:g.11236806G>A						CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.A153A	p.A586A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1903	-			586					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1758C>T	CCDS3881.1																																																																																				0.443	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	11236806	G	A	11236806	2	1	56	1	0	0	0	0	0	0	0	1	4020	1103	39	2		2	CTNND2	5	11236806	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08		11236806	169678454	30	3560											
SLIT3	6586	broad.mit.edu	37	chr5	168098222	168098222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtggccgaggcaggggtCccgggcctcctgatcgcaga	5	6	16	14	3	0	2	0	1	0	1	3	3	2	2	5	5	0	2	5	5	0	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:168098222C>T	ENST00000519560.1	-	34	4527	c.4108G>A	c.(4108-4110)Gac>Aac	p.D1370N	SLIT3_ENST00000404867.3_Missense_Mutation_p.D1370N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D1377N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1370	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCAGGGGTCCCGGGCCTCC	0.672																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4129-4131)Gac>Aac		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							22	23	23					5																	168098222		2188	4284	6472	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168098222C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4108G>A	5.37:g.168098222C>T	ENSP00000430333:p.Asp1370Asn					SLIT3_uc003mab.3_Missense_Mutation_p.D1370N	p.D1377N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	4549	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1370			EGF-like 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4129G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419173	0.25552	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95307	-3.67;-3.67;-3.67	5.43	5.43	0.79202	Epidermal growth factor-like, type 3 (1);	0.195340	0.52532	D	0.000066	D	0.90317	0.6971	L	0.33093	0.98	0.58432	D	0.999993	B	0.06786	0.001	B	0.20577	0.03	D	0.85861	0.1410	10	0.33940	T	0.23	.	12.5781	0.56375	0.0:0.9242:0.0:0.0758	.	1370	O75094	SLIT3_HUMAN	N	1370;1377;1370	ENSP00000430333:D1370N;ENSP00000332164:D1377N;ENSP00000384890:D1370N	ENSP00000332164:D1377N	D	-	1	0	SLIT3	168030800	0.999000	0.42202	0.995000	0.50966	0.185000	0.23345	3.946000	0.56644	2.545000	0.85829	0.462000	0.41574	GAC		0.672	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168098222	C	T	168098222	3	4	56	1	0	0	0	0	1	0	0	0	14741	855	30	3	475	3	SLIT3	5	168098222	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	156861416	168098222	12817038	31	3561											
KIF13A	63971	broad.mit.edu	37	chr6	17826293	17826293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagtgattatttccccatAggattcggtcaccatgccac	12	11	7	11	1	1	1	1	1	0	0	3	2	2	2	4	2	1	0	4	2	4	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:17826293A>G	ENST00000259711.6	-	15	1700	c.1595T>C	c.(1594-1596)cTa>cCa	p.L532P	KIF13A_ENST00000378843.2_Missense_Mutation_p.L532P|KIF13A_ENST00000378814.5_Missense_Mutation_p.L532P|KIF13A_ENST00000378816.5_Missense_Mutation_p.L532P|KIF13A_ENST00000378826.2_Missense_Mutation_p.L532P	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	532					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTTCCCCATAGGATTCGGTC	0.398																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1594-1596)cTa>cCa		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							84	80	81					6																	17826293		1878	4130	6008	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826293A>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1595T>C	6.37:g.17826293A>G	ENSP00000259711:p.Leu532Pro					KIF13A_uc003ncf.3_Missense_Mutation_p.L532P|KIF13A_uc003nch.4_Missense_Mutation_p.L532P|KIF13A_uc003nci.4_Missense_Mutation_p.L532P|KIF13A_uc003ncj.3_Missense_Mutation_p.L208P	p.L532P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		14	1755	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	532					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1595T>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554775	0.86231	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.8	5.8	0.92144	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.64402	D	0.000002	D	0.86075	0.5846	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.976;1.0;0.999;1.0	D;P;D;D;D	0.91635	0.996;0.804;0.991;0.996;0.999	D	0.88771	0.3264	10	0.87932	D	0	.	16.1448	0.81559	1.0:0.0:0.0:0.0	.	503;532;532;532;532	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	P	532	ENSP00000368091:L532P;ENSP00000259711:L532P;ENSP00000368103:L532P;ENSP00000368120:L532P;ENSP00000368093:L532P	ENSP00000259711:L532P	L	-	2	0	KIF13A	17934272	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	9.307000	0.96226	2.216000	0.71823	0.482000	0.46254	CTA		0.398	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			G	17826293	A	G	17826293	3	3	56	1	0	0	0	0	1	0	0	0	8274	420	15	4	3947	4	KIF13A	6	17826293	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08		17826293	153288774	32	3562											
OR2B3	442184	broad.mit.edu	37	chr6	29054831	29054831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatctaagatggagagAttagtgagaaagaaatacat	19	8	11	3	0	1	5	0	1	1	5	1	9	1	6	0	1	1	0	0	1	5	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:29054831A>T	ENST00000377173.2	-	1	259	c.195T>A	c.(193-195)aaT>aaA	p.N65K		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATGGAGAGATTAGTGAGAA	0.398																																						uc003nlx.3																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(193-195)aaT>aaA		Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.							149	143	145					6																	29054831		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054831A>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.195T>A	6.37:g.29054831A>T	ENSP00000366378:p.Asn65Lys						p.N65K	NM_001005226	NP_001005226					0	260	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.195T>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375069	0.61735	.	.	ENSG00000204703	ENST00000377173	T	0.12879	2.64	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000636	T	0.14743	0.0356	M	0.92169	3.28	0.26106	N	0.980747	P	0.45594	0.862	P	0.46208	0.507	T	0.24368	-1.0162	10	0.87932	D	0	.	4.9322	0.13923	0.7161:0.0:0.2839:0.0	.	65	O76000	OR2B3_HUMAN	K	65	ENSP00000366378:N65K	ENSP00000366378:N65K	N	-	3	2	OR2B3	29162810	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.439000	0.06897	1.385000	0.46445	0.472000	0.43445	AAT		0.398	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			T	29054831	A	T	29054831	3	4	56	1	0	0	0	0	1	0	0	0	10990	330	12	5	750	5	OR2B3	6	29054831	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	11228538	29054831	142060236	33	3563											
BTNL2	56244	broad.mit.edu	37	chr6	32372722	32372722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagatattcacctgctaCtttgagcagcaagcttgttt	9	13	7	12	0	1	2	1	1	0	1	1	2	1	2	3	0	5	5	3	0	3	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:32372722C>T	ENST00000374993.1	-	2	420	c.421G>A	c.(421-423)Gta>Ata	p.V141I	BTNL2_ENST00000454136.3_Missense_Mutation_p.V141I|BTNL2_ENST00000429232.2_Missense_Mutation_p.V141I|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.V141I	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	141						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCACCTGCTACTTTGAGCAGC	0.448																																						uc003obg.1																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(421-423)Gta>Ata		Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.							152	147	149					6																	32372722		1511	2708	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32372722C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.421G>A	6.37:g.32372722C>T	ENSP00000364132:p.Val141Ile					BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.V141I	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			1	421	-			141					A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.421G>A		.	.	.	.	.	.	.	.	.	.	C	18.93	3.728706	0.69074	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232	T;T;T	0.12255	2.7;2.7;2.7	4.91	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.41097	D	0.000954	T	0.32466	0.0830	M	0.84948	2.725	0.29966	N	0.818974	D	0.76494	0.999	D	0.76071	0.987	T	0.08743	-1.0707	10	0.72032	D	0.01	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	141	Q9UIR0	BTNL2_HUMAN	I	141	ENSP00000364134:V141I;ENSP00000364132:V141I;ENSP00000411166:V141I	ENSP00000364132:V141I	V	-	1	0	BTNL2	32480700	0.983000	0.35010	0.929000	0.37066	0.585000	0.36419	4.487000	0.60293	2.755000	0.94549	0.632000	0.83419	GTA		0.448	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		T	32372722	C	T	32372722	3	4	56	1	0	0	0	0	1	0	0	0	1565	565	20	3	966	3	BTNL2	6	32372722	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	3317891	32372722	138742345	34	3564											
CGA	1081	broad.mit.edu	37	chr6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtggactctgaggtgaCgttcttttggaccaacatcg	9	11	12	9	2	2	2	0	2	2	0	3	4	2	4	1	3	1	2	1	3	2	3	rs145503313		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:87796012C>T	ENST00000369582.2	-	3	329	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	77					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V77I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483																																						uc003plj.2																			1	Substitution - Missense(1)	p.V77I(2)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(229-231)Gtc>Atc		Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.		C	ILE/VAL	0,4406		0,0,2203	196	192	193		229	4.3	0.9	6	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	CGA	NM_000735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/117	87796012	1,13005	2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796012C>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"Endogenous ligands"	1885	protein-coding gene	gene with protein product	"follicle-stimulating hormone alpha subunit", "chorionic gonadotropin, alpha polypeptide", "luteinizing hormone alpha chain", "lutropin alpha chain", "thyroid-stimulating hormone alpha chain", "glycoprotein hormones alpha chain"	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.229G>A	6.37:g.87796012C>T	ENSP00000358595:p.Val77Ile					CGA_uc021zci.1_Missense_Mutation_p.V108I	p.V77I	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	2	371	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	77						Missense_Mutation	SNP	ENST00000369582.2	37	c.229G>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.080860	0.01888	0.0	1.16E-4	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.35	0.52113	.	0.046039	0.85682	N	0.000000	T	0.02230	0.0069	N	0.00339	-1.615	0.29560	N	0.850677	B	0.15930	0.015	B	0.18561	0.022	T	0.44298	-0.9337	9	0.02654	T	1	-21.153	10.3843	0.44129	0.0:0.0853:0.0:0.9147	.	77	P01215	GLHA_HUMAN	I	77	.	ENSP00000358595:V77I	V	-	1	0	CGA	87852731	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.616000	0.61197	0.838000	0.34948	-0.225000	0.12378	GTC		0.483	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		T	87796012	C	T	87796012	3	4	56	1	0	0	0	0	1	0	0	0	3295	536	19	1	129	1	CGA	6	87796012	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	55423290	87796012	83319055	35	3565											
LAMA2	3908	broad.mit.edu	37	chr6	129813614	129813614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctttcctacgcccaccCcagttctgacacatgtaagt	9	10	6	16	1	1	1	0	1	1	0	2	1	2	1	5	0	2	2	5	0	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:129813614C>T	ENST00000421865.2	+	58	8279	c.8230C>T	c.(8230-8232)Cca>Tca	p.P2744S	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2744					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACGCCCACCCCAGTTCTGAC	0.443																																						uc021zfb.1																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8230-8232)Cca>Tca		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							68	74	72					6																	129813614		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129813614C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8230C>T	6.37:g.129813614C>T	ENSP00000400365:p.Pro2744Ser					LAMA2_uc003qbn.3_Missense_Mutation_p.P2742S|LAMA2_uc003qbo.3_Missense_Mutation_p.P2738S|BC035400_uc003qbq.3_Intron	p.P2744S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	57	8335	+			2744					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8230C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795198	0.31777	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.34275	1.37	5.41	3.65	0.41850	.	0.466053	0.23321	N	0.049447	T	0.19525	0.0469	M	0.62723	1.935	0.21782	N	0.999542	P;P	0.35656	0.514;0.514	B;B	0.32677	0.15;0.105	T	0.06391	-1.0829	9	.	.	.	.	16.486	0.84183	0.0:0.8015:0.1985:0.0	.	2745;2744	A6NF00;P24043	.;LAMA2_HUMAN	S	2744;2743;2744;762	ENSP00000400365:P2744S	.	P	+	1	0	LAMA2	129855307	0.002000	0.14202	0.173000	0.22940	0.220000	0.24768	0.816000	0.27267	0.684000	0.31448	-0.932000	0.02703	CCA		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129813614	C	T	129813614	3	4	56	1	0	0	0	0	1	0	0	0	8606	623	22	3	8460	3	LAMA2	6	129813614	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	42017602	129813614	41301453	36	3566											
PLG	5340	broad.mit.edu	37	chr6	161127532	161127532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaggaagtatagaagAatgtgcagcaaaatgtgagg	16	6	16	3	0	0	3	0	1	0	2	0	5	0	5	0	3	3	4	0	3	7	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:161127532A>G	ENST00000308192.9	+	2	206	c.143A>G	c.(142-144)gAa>gGa	p.E48G	PLG_ENST00000366924.2_Missense_Mutation_p.E48G|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	48	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTATAGAAGAATGTGCAGCA	0.468																																						uc003qtm.4																			0		p.E47K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(142-144)gAa>gGa		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						136	137	137					6																	161127532		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127532A>G	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.143A>G	6.37:g.161127532A>G	ENSP00000308938:p.Glu48Gly					PLG_uc021zhr.1_Missense_Mutation_p.E48G	p.E48G	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	1	255	+			48			PAN.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.143A>G	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.140288	0.77775	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	D;D;D	0.91521	-2.86;-2.86;-2.86	4.74	4.74	0.60224	PAN-1 domain (1);Apple-like (2);	0.362035	0.19438	U	0.114244	D	0.92606	0.7651	M	0.82056	2.57	0.49687	D	0.999813	D	0.56968	0.978	P	0.57846	0.828	D	0.93359	0.6725	10	0.72032	D	0.01	.	12.0822	0.53677	1.0:0.0:0.0:0.0	.	48	P00747	PLMN_HUMAN	G	48	ENSP00000355891:E48G;ENSP00000308938:E48G;ENSP00000389424:E48G	ENSP00000308938:E48G	E	+	2	0	PLG	161047522	1.000000	0.71417	0.010000	0.14722	0.413000	0.31143	6.501000	0.73691	1.894000	0.54839	0.533000	0.62120	GAA		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		G	161127532	A	G	161127532	3	3	56	1	0	0	0	0	1	0	0	0	12086	246	9	4	149	4	PLG	6	161127532	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	31313918	161127532	9987535	37	3567											
C7orf41	222166	broad.mit.edu	37	chr7	30174862	30174862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggatttctacgccgaccCcggcgtctccttctatgtgc	5	12	10	14	4	3	0	0	0	3	0	4	3	3	1	4	2	2	0	4	2	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:30174862C>T	ENST00000324453.8	+	1	437	c.110C>T	c.(109-111)cCc>cTc	p.P37L	C7orf41_ENST00000415604.1_Missense_Mutation_p.P37L|C7orf41_ENST00000409688.1_Missense_Mutation_p.P37L	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		37					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						TACGCCGACCCCGGCGTCTCC	0.642																																						uc011kab.1																			0				NS(1)|large_intestine(2)	3						c.(109-111)cCc>cTc		Homo sapiens chromosome 7 open reading frame 41 (C7orf41), mRNA.							23	30	28					7																	30174862		2174	4280	6454	SO:0001583	missense	222166							g.chr7:30174862C>T																												ENST00000324453.8:c.110C>T	7.37:g.30174862C>T	ENSP00000324204:p.Pro37Leu					C7orf41_uc003tar.1_Missense_Mutation_p.P37L	p.P37L	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN			0	311	+			37					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	c.110C>T	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529230	0.85706	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.66	3.66	0.41972	.	0.000000	0.64402	U	0.000001	T	0.62732	0.2452	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.67086	-0.5759	9	0.72032	D	0.01	-9.6508	12.8106	0.57637	0.0:1.0:0.0:0.0	.	37	Q8N3F0	CG041_HUMAN	L	37	.	ENSP00000324204:P37L	P	+	2	0	C7orf41	30141387	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	6.636000	0.74299	1.567000	0.49668	0.297000	0.19635	CCC		0.642	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1			T	30174862	C	T	30174862	3	4	56	1	0	0	0	0	1	0	0	0	2391	623	22	3	112	3	C7orf41	7	30174862	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		30174862	128963801	38	3568											
PDE1C	5137	broad.mit.edu	37	chr7	31855588	31855588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctttggagtttttcccaCgagggttgtcacttttgttt	4	18	11	8	2	1	0	1	0	0	0	2	2	2	1	1	3	0	4	1	3	0	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:31855588C>T	ENST00000396191.1	-	15	2218	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	PDE1C_ENST00000321453.7_Missense_Mutation_p.R588H|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.R648H|PDE1C_ENST00000396184.3_Missense_Mutation_p.R588H|PDE1C_ENST00000396182.2_Missense_Mutation_p.R588H	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	588					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTTTTTCCCACGAGGGTTGTC	0.468																																						uc003tcm.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1762-1764)cGt>cAt		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.							237	232	233					7																	31855588		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855588C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1763G>A	7.37:g.31855588C>T	ENSP00000379494:p.Arg588His					PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.2_Missense_Mutation_p.R648H|PDE1C_uc003tcr.3_Missense_Mutation_p.R588H|PDE1C_uc003tcs.3_Missense_Mutation_p.R588H	p.R588H	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	2224	-			588					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1763G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143958	0.06627	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72167	-0.63;-0.62;-0.62;-0.59;-0.59	5.34	-3.52	0.04682	.	1.363890	0.04732	N	0.421336	T	0.43500	0.1250	N	0.04508	-0.205	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24440	-1.0160	10	0.45353	T	0.12	.	3.3028	0.06989	0.1227:0.2205:0.1206:0.5363	.	588;648;588	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	H	648;588;588;588;588	ENSP00000379496:R648H;ENSP00000379494:R588H;ENSP00000318105:R588H;ENSP00000379487:R588H;ENSP00000379485:R588H	ENSP00000318105:R588H	R	-	2	0	PDE1C	31822113	0.000000	0.05858	0.815000	0.32552	0.003000	0.03518	-1.137000	0.03219	-0.323000	0.08602	-1.619000	0.00793	CGT		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			T	31855588	C	T	31855588	3	4	56	1	0	0	0	0	1	0	0	0	11635	536	19	1	153	1	PDE1C	7	31855588	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1680726	31855588	127283075	39	3569											
C7orf10	79783	broad.mit.edu	37	chr7	40228112	40228112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagctggtgatgatacacGaacttgggggccaccttttg	9	10	14	8	1	0	2	0	2	0	0	0	4	0	3	2	4	3	1	2	4	2	4	rs200690632		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:40228112G>A	ENST00000335693.4	+	4	289	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.R89Q|C7orf10_ENST00000540834.1_Missense_Mutation_p.R82Q|C7orf10_ENST00000309930.5_Missense_Mutation_p.R89Q	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		89					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(265-267)cGa>cAa		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							58	58	58					7																	40228112		1821	4081	5902	SO:0001583	missense	79783						transferase activity	g.chr7:40228112G>A																												ENST00000335693.4:c.266G>A	7.37:g.40228112G>A	ENSP00000338475:p.Arg89Gln					C7orf10_uc003thn.2_Missense_Mutation_p.R89Q|C7orf10_uc003tho.2_Missense_Mutation_p.R89Q	p.R89Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			3	290	+			89					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.266G>A	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.247256|5.247256	0.95305|0.95305	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834	.|D;T;T;T	.|0.90385	.|-2.66;0.01;0.01;0.01	5.5|5.5	5.5|5.5	0.81552|0.81552	.|CoA-transferase family III domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95414|0.95414	0.8511|0.8511	M|M	0.76838|0.76838	2.35|2.35	0.49582|0.49582	D|D	0.999802|0.999802	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.95540|0.95540	0.8611|0.8611	5|10	.|0.87932	.|D	.|0	-11.3254|-11.3254	18.5453|18.5453	0.91044|0.91044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|89;89;89	.|Q4KMW8;Q9HAC7;Q9HAC7-2	.|.;CG010_HUMAN;.	K|Q	84|89;89;89;82	.|ENSP00000312054:R89Q;ENSP00000385222:R89Q;ENSP00000338475:R89Q;ENSP00000445521:R82Q	.|ENSP00000312054:R89Q	E|R	+|+	1|2	0|0	C7orf10|C7orf10	40194637|40194637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.039000|8.039000	0.88947|0.88947	2.741000|2.741000	0.93983|0.93983	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.338	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			A	40228112	G	A	40228112	3	1	56	1	0	0	0	0	1	0	0	0	2376	1058	37	2	280	2	C7orf10	7	40228112	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	8372524	40228112	118910551	40	3570											
EGFR	1956	broad.mit.edu	37	chr7	55223624	55223624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgtaagaagtgcgaaGggccttgccgcaaaggtagg	12	6	16	7	2	0	1	0	0	0	1	0	2	0	1	2	3	2	4	2	3	6	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:55223624G>A	ENST00000275493.2	+	8	1168	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	EGFR_ENST00000454757.2_Missense_Mutation_p.G278R|EGFR_ENST00000420316.2_Missense_Mutation_p.G331R|EGFR_ENST00000342916.3_Missense_Mutation_p.G331R|EGFR_ENST00000344576.2_Missense_Mutation_p.G331R|EGFR_ENST00000455089.1_Missense_Mutation_p.G286R|EGFR_ENST00000442591.1_Missense_Mutation_p.G331R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	331					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAAGTGCGAAGGGCCTTGCCG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.G331G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(991-993)Ggg>Agg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						35	32	33					7																	55223624		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223624G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.991G>A	7.37:g.55223624G>A	ENSP00000275493:p.Gly331Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.G331R|EGFR_uc003tqi.3_Missense_Mutation_p.G331R|EGFR_uc003tqj.3_Missense_Mutation_p.G331R|EGFR_uc022adm.1_Missense_Mutation_p.G331R|EGFR_uc010kzg.2_Missense_Mutation_p.G286R|EGFR_uc022adn.1_Missense_Mutation_p.G286R|EGFR_uc011kco.2_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.G331R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1237	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		331					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.991G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154187	0.78114	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.84433	2.695	0.80722	D	1	D;P;D;D;D	0.89917	0.988;0.954;1.0;0.995;0.999	P;P;D;D;D	0.97110	0.858;0.744;1.0;0.917;0.943	T	0.76613	-0.2895	10	0.62326	D	0.03	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	286;331;331;331;331	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	286;331;201;331;331;331;331;278;125	ENSP00000415559:G286R;ENSP00000342376:G331R;ENSP00000345973:G331R;ENSP00000413843:G331R;ENSP00000275493:G331R;ENSP00000410031:G331R;ENSP00000395243:G278R	ENSP00000275493:G331R	G	+	1	0	EGFR	55191118	1.000000	0.71417	0.973000	0.42090	0.369000	0.29798	6.623000	0.74238	2.655000	0.90218	0.655000	0.94253	GGG		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55223624	G	A	55223624	3	1	56	1	0	0	0	0	1	0	0	0	4967	1000	35	3	1021	3	EGFR	7	55223624	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	14995512	55223624	103915039	41	3571											
WBSCR17	64409	broad.mit.edu	37	chr7	71130459	71130459	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcccacattgagcggAagaagaagccatataatagc	14	6	13	8	1	0	3	0	1	0	2	0	4	0	4	2	3	3	0	2	3	6	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:71130459A>T	ENST00000333538.5	+	7	1778	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	382					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTGAGCGGAAGAAGAAGCC	0.488																																						uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1144-1146)Aag>Tag		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							110	101	104					7																	71130459		2203	4300	6503	SO:0001587	stop_gained	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130459A>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1144A>T	7.37:g.71130459A>T	ENSP00000329654:p.Lys382*					WBSCR17_uc003tvz.3_Nonsense_Mutation_p.K81*	p.K382*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			6	1144	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	382					Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	ENST00000333538.5	37	c.1144A>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	A	44	10.627909	0.99440	.	.	ENSG00000185274	ENST00000333538	.	.	.	5.85	4.63	0.57726	.	0.162322	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7013	0.23227	0.7684:0.1551:0.0765:0.0	.	.	.	.	X	382	.	ENSP00000329654:K382X	K	+	1	0	WBSCR17	70768395	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.912000	0.48782	2.235000	0.73313	0.460000	0.39030	AAG		0.488	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		T	71130459	A	T	71130459	4	4	56	1	0	0	0	0	0	1	0	0	17261	247	9	5	1170	5	WBSCR17	7	71130459	Nonsense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	15906835	71130459	88008204	42	3572											
MLXIPL	51085	broad.mit.edu	37	chr7	73011056	73011056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcctggaggtggccGgggcggtgtaggggccgggg	2	4	26	9	4	0	0	0	0	0	0	0	1	0	1	4	12	0	1	4	12	1	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:73011056G>A	ENST00000313375.3	-	11	1782	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	MLXIPL_ENST00000429400.2_Missense_Mutation_p.R579W|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R486W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R485W|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R579W|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R579W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	579					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGGCCGGGGCGGTGTA	0.692																																						uc003tyn.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1735-1737)Cgg>Tgg		Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.							8	10	9					7																	73011056		1951	4099	6050	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73011056G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1735C>T	7.37:g.73011056G>A	ENSP00000320886:p.Arg579Trp					MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.R579W|MLXIPL_uc003tym.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.R485W|MLXIPL_uc003tyq.1_Missense_Mutation_p.R346W	p.R579W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			10	1783	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	579					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1735C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.304896	0.40795	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.24538	2.44;2.46;2.45;2.45;1.85;1.86	4.22	1.2	0.21068	.	1.301070	0.04975	N	0.464627	T	0.33440	0.0863	N	0.24115	0.695	0.28745	N	0.901764	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;1.0	P;D;P;D;D;D	0.70016	0.897;0.967;0.897;0.952;0.951;0.967	T	0.26360	-1.0105	10	0.66056	D	0.02	-12.1272	4.39	0.11335	0.1104:0.0:0.4878:0.4018	.	486;486;579;579;579;579	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	W	579;579;579;579;486;485	ENSP00000412330:R579W;ENSP00000406296:R579W;ENSP00000320886:R579W;ENSP00000346629:R579W;ENSP00000378616:R486W;ENSP00000392636:R485W	ENSP00000320886:R579W	R	-	1	2	MLXIPL	72648992	0.988000	0.35896	0.968000	0.41197	0.328000	0.28507	1.948000	0.40303	0.472000	0.27344	0.531000	0.56144	CGG		0.692	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		A	73011056	G	A	73011056	3	1	56	1	0	0	0	0	1	0	0	0	9637	1115	39	2	851	2	MLXIPL	7	73011056	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	1880597	73011056	86127607	43	3573											
SEMA3C	10512	broad.mit.edu	37	chr7	80390932	80390932	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatagcttagtttttacCtttttagatgaaattttcat	13	20	4	4	0	1	2	1	1	0	1	1	2	1	2	1	0	2	2	1	0	7	11			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:80390932C>A	ENST00000265361.3	-	14	2046	c.1485G>T	c.(1483-1485)aaG>aaT	p.K495N	SEMA3C_ENST00000544525.1_Splice_Site_p.K513N|SEMA3C_ENST00000419255.2_Splice_Site_p.K495N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	495	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAGTTTTTACCTTTTTAGATG	0.229																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e14+1		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							32	34	33					7																	80390932		2125	4196	6321	SO:0001630	splice_region_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80390932C>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1485+1G>T	7.37:g.80390932C>A						SEMA3C_uc003uhj.3_Splice_Site_p.K495_splice	p.K513_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1618	-			495					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1539_splice	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067431	0.76301	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.10573	2.86;2.86;2.86	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.52206	1.635	0.80722	D	1	D;D	0.55385	0.964;0.971	P;P	0.62298	0.839;0.9	T	0.00015	-1.2396	9	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	513;495	F5H1Z7;Q99985	.;SEM3C_HUMAN	N	495;495;513	ENSP00000265361:K495N;ENSP00000411193:K495N;ENSP00000445649:K513N	.	K	-	3	2	SEMA3C	80228868	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.878000	0.48515	2.871000	0.98454	0.655000	0.94253	AAG		0.229	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	Missense_Mutation	A	80390932	C	A	80390932	5	1	56	1	0	0	0	0	0	0	1	0	14026	695	24	5	790	5	SEMA3C	7	80390932	Splice_Site	SNP	C	TCGA-06-0649-01B-01W-0348-08	7379876	80390932	78747731	44	3574											
PCLO	27445	broad.mit.edu	37	chr7	82581469	82581469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacacagctcttctccctgCggttaaatcaacgggttttt	8	13	8	12	2	3	0	1	0	2	0	4	0	3	0	1	2	3	4	1	2	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:82581469C>T	ENST00000333891.9	-	5	9137	c.8800G>A	c.(8800-8802)Gca>Aca	p.A2934T	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A2934T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTCCCTGCGGTTAAATCA	0.433																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8800-8802)Gca>Aca		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							108	109	109					7																	82581469		1908	4128	6036	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581469C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8800G>A	7.37:g.82581469C>T	ENSP00000334319:p.Ala2934Thr					PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.3_5'Flank	p.A2934T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	9089	-			2865						Missense_Mutation	SNP	ENST00000333891.9	37	c.8800G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.726	1.160850	0.21538	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20881	2.04;2.06	5.67	5.67	0.87782	.	.	.	.	.	T	0.45955	0.1368	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.973;0.98	T	0.33854	-0.9852	9	0.87932	D	0	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	2934;2934	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2865;2934;2934	ENSP00000334319:A2934T;ENSP00000388393:A2934T	ENSP00000334319:A2934T	A	-	1	0	PCLO	82419405	1.000000	0.71417	0.996000	0.52242	0.313000	0.28021	5.922000	0.70036	2.660000	0.90430	0.557000	0.71058	GCA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82581469	C	T	82581469	3	4	56	1	0	0	0	0	1	0	0	0	11583	768	27	1	6729	1	PCLO	7	82581469	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	2190537	82581469	76557194	45	3575											
SAMD9L	219285	broad.mit.edu	37	chr7	92761300	92761300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttctagctttttccTgcaattctcctcctggagta	7	15	7	12	0	2	1	0	0	2	1	5	2	4	2	3	1	3	4	3	1	3	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92761300T>C	ENST00000318238.4	-	5	5201	c.3985A>G	c.(3985-3987)Agg>Ggg	p.R1329G	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1329G|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1329G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1329					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTTTTCCTGCAATTCTCC	0.388																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3985-3987)Agg>Ggg		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							77	80	79					7																	92761300		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92761300T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3985A>G	7.37:g.92761300T>C	ENSP00000326247:p.Arg1329Gly					SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1329G	p.R1329G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	5201	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1329					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3985A>G	CCDS34681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.535037|3.535037	0.64972|0.64972	.|.	.|.	ENSG00000177409|ENSG00000177409	ENST00000394472|ENST00000318238;ENST00000411955;ENST00000437805	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.22|5.22	4.05|4.05	0.47172|0.47172	.|.	.|0.064498	.|0.56097	.|D	.|0.000022	.|T	.|0.51176	.|0.1659	M|M	0.68593|0.68593	2.085|2.085	0.36524|0.36524	D|D	0.870303|0.870303	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	.|T	.|0.61879	.|-0.6972	.|10	.|0.72032	.|D	.|0.01	.|-13.0011	11.9494|11.9494	0.52946|0.52946	0.0:0.0:0.1457:0.8543|0.0:0.0:0.1457:0.8543	.|.	.|1329	.|Q8IVG5	.|SAM9L_HUMAN	.|G	-1|1329	.|ENSP00000326247:R1329G;ENSP00000405760:R1329G;ENSP00000408796:R1329G	.|ENSP00000326247:R1329G	.|R	-|-	.|1	.|2	SAMD9L|SAMD9L	92599236|92599236	0.000000|0.000000	0.05858|0.05858	0.706000|0.706000	0.30403|0.30403	0.944000|0.944000	0.59088|0.59088	0.839000|0.839000	0.27586|0.27586	0.979000|0.979000	0.38497|0.38497	0.383000|0.383000	0.25322|0.25322	.|AGG		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92761300	T	C	92761300	3	2	56	1	0	0	0	0	1	0	0	0	13827	1579	55	4	773	4	SAMD9L	7	92761300	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	10179831	92761300	66377363	46	3576											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848596	92848596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaccacagacttattcacaGagcccagtaagtatttgggc	13	9	9	10	0	1	2	1	0	0	2	1	3	1	2	2	1	2	2	2	1	4	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92848596G>A	ENST00000394468.2	-	2	325	c.248C>T	c.(247-249)tCt>tTt	p.S83F	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S71F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S71F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S106F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	83					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTATTCACAGAGCCCAGTAA	0.478																																						uc011khy.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(316-318)tCt>tTt		Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.							155	147	150					7																	92848596		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848596G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.248C>T	7.37:g.92848596G>A	ENSP00000377980:p.Ser83Phe					HEPACAM2_uc003uml.3_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.3_Missense_Mutation_p.S71F|HEPACAM2_uc003umm.3_Missense_Mutation_p.S83F	p.S106F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN			2	340	-			83					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.317C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079306	0.55753	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.103412	0.64402	D	0.000002	T	0.50531	0.1621	L	0.34521	1.04	0.47905	D	0.999549	B;P;B;B	0.39094	0.4;0.659;0.116;0.347	B;B;B;B	0.34873	0.191;0.191;0.145;0.069	T	0.47182	-0.9137	10	0.10111	T	0.7	-20.894	20.269	0.98464	0.0:0.0:1.0:0.0	.	106;71;83;71	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	F	83;71;71;106	ENSP00000377980:S83F;ENSP00000340532:S71F;ENSP00000389592:S71F;ENSP00000390204:S106F	ENSP00000340532:S71F	S	-	2	0	HEPACAM2	92686532	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.448000	0.66612	2.878000	0.98634	0.650000	0.86243	TCT		0.478	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		A	92848596	G	A	92848596	3	1	56	1	0	0	0	0	1	0	0	0	7053	942	33	3	1176	3	HEPACAM2	7	92848596	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	87296	92848596	66290067	47	3577											
NPTX2	4885	broad.mit.edu	37	chr7	98254367	98254367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtggctgcggtccagCgcctcaccaggcattggcac	5	8	13	15	2	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	0	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:98254367C>T	ENST00000265634.3	+	3	942	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	259	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGGTCCAGCGCCTCACCAG	0.607																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(775-777)agC>agT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							146	118	127					7																	98254367		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254367C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.777C>T	7.37:g.98254367C>T							p.S259S	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	954	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		259			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.777C>T	CCDS5657.1																																																																																				0.607	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98254367	C	T	98254367	2	4	56	1	0	0	0	0	0	0	0	1	10603	767	27	1		1	NPTX2	7	98254367	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	5405771	98254367	60884296	48	3578											
LAMB4	22798	broad.mit.edu	37	chr7	107720190	107720190	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggaactggctctcctaaAacaacgtgaacagcaggact	14	6	9	12	1	1	1	0	1	1	0	2	3	1	3	2	3	5	2	2	3	5	1	rs554035095		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:107720190A>C	ENST00000388781.3	-	15	1826	c.1743T>G	c.(1741-1743)gtT>gtG	p.V581V	LAMB4_ENST00000414450.2_Silent_p.V581V|LAMB4_ENST00000205386.4_Silent_p.V581V|LAMB4_ENST00000388780.3_Silent_p.V581V|LAMB4_ENST00000418464.1_Silent_p.V581V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	581	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCTCTCCTAAAACAACGTGAA	0.502																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1741-1743)gtT>gtG		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							56	52	53					7																	107720190		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107720190A>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1743T>G	7.37:g.107720190A>C						LAMB4_uc003vey.2_Silent_p.V581V	p.V581V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			14	1827	-			581			Laminin IV type B.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1743T>G	CCDS34732.1																																																																																				0.502	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		C	107720190	A	C	107720190	2	2	56	1	0	0	0	0	0	0	0	1	8613	1	1	5		5	LAMB4	7	107720190	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08	9465823	107720190	51418473	49	3579											
EPHA1	2041	broad.mit.edu	37	chr7	143095767	143095767	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccctgacactccattttgGgcttccacattaaaggtgta	10	12	8	11	0	0	1	0	1	0	0	2	1	2	1	3	2	1	2	3	2	3	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:143095767G>C	ENST00000275815.3	-	6	1349	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	421	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCCATTTTGGGCTTCCACAT	0.607																																						uc003wcz.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1261-1263)gcC>gcG		Homo sapiens EPH receptor A1 (EPHA1), mRNA.							85	76	79					7																	143095767		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095767G>C	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1263C>G	7.37:g.143095767G>C							p.A421A	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	1350	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	421			Fibronectin type-III 1.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.1263C>G	CCDS5884.1																																																																																				0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			C	143095767	G	C	143095767	2	2	56	1	0	0	0	0	0	0	0	1	5165	1219	43	5		5	EPHA1	7	143095767	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	35375577	143095767	16042896	50	3580											
GIMAP4	55303	broad.mit.edu	37	chr7	150269791	150269791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgggcctgatccagcgCgtggtgagggagaacaagga	9	7	17	8	2	0	3	0	2	0	1	1	5	1	4	2	4	3	1	2	4	2	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:150269791C>T	ENST00000255945.2	+	3	808	c.633C>T	c.(631-633)cgC>cgT	p.R211R	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.R225R	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATCCAGCGCGTGGTGAGGG	0.542																																						uc003whl.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(631-633)cgC>cgT		Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.							93	90	91					7																	150269791		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269791C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.633C>T	7.37:g.150269791C>T						GIMAP4_uc011kuu.2_Silent_p.R72R|GIMAP4_uc011kuv.2_Silent_p.R225R	p.R211R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	715	+			211						Silent	SNP	ENST00000255945.2	37	c.633C>T	CCDS5904.1																																																																																				0.542	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		T	150269791	C	T	150269791	2	4	56	1	0	0	0	0	0	0	0	1	6381	755	27	1		1	GIMAP4	7	150269791	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	7174024	150269791	8868872	51	3581											
KCNU1	157855	broad.mit.edu	37	chr8	36693858	36693858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctaccaccagaatcatcaTacagatactgcaatcccata	15	10	3	13	0	3	2	2	0	1	2	4	2	4	2	3	0	4	1	3	0	6	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:36693858T>A	ENST00000399881.3	+	13	1377	c.1340T>A	c.(1339-1341)aTa>aAa	p.I447K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	447	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAATCATCATACAGATACTG	0.358																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1339-1341)aTa>aAa		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							147	141	143					8																	36693858		1837	4088	5925	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36693858T>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1340T>A	8.37:g.36693858T>A	ENSP00000382770:p.Ile447Lys					KCNU1_uc003xjw.2_Non-coding_Transcript	p.I447K	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	12	1427	+			447			RCK N-terminal.			Missense_Mutation	SNP	ENST00000399881.3	37	c.1340T>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737003	0.49045	.	.	ENSG00000215262	ENST00000399881	T	0.70282	-0.47	5.6	5.6	0.85130	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.192059	0.23069	U	0.052295	T	0.76378	0.3979	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.78833	-0.2048	10	0.87932	D	0	-7.8538	10.1653	0.42877	0.0:0.075:0.0:0.925	.	447	A8MYU2	KCNU1_HUMAN	K	447	ENSP00000382770:I447K	ENSP00000382770:I447K	I	+	2	0	KCNU1	36813016	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.050000	0.64251	2.251000	0.74343	0.528000	0.53228	ATA		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		A	36693858	T	A	36693858	3	1	56	1	0	0	0	0	1	0	0	0	8093	1406	49	5	1390	5	KCNU1	8	36693858	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		36693858	109670164	52	3582											
TMEM70	54968	broad.mit.edu	37	chr8	74893724	74893724	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattttatgctaaaacaaaAtcactgttagttaatccagt	16	14	4	7	0	1	0	1	0	0	0	2	0	2	0	1	0	2	3	1	0	7	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:74893724A>C	ENST00000312184.5	+	3	724	c.651A>C	c.(649-651)aaA>aaC	p.K217N	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	217					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAAAACAAAATCACTGTTAG	0.343																																						uc003yab.3																			0		p.T216I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(649-651)aaA>aaC		Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							101	97	99					8																	74893724		2203	4300	6503	SO:0001583	missense	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74893724A>C	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.651A>C	8.37:g.74893724A>C	ENSP00000312599:p.Lys217Asn					TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_3'UTR	p.K217N	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		2	791	+	Breast(64;0.0311)		217					E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	c.651A>C	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379803	0.61845	.	.	ENSG00000175606	ENST00000312184	T	0.68181	-0.31	5.38	3.04	0.35103	.	0.171753	0.52532	D	0.000071	T	0.78368	0.4272	M	0.77103	2.36	0.44508	D	0.997456	D	0.89917	1.0	D	0.73380	0.98	T	0.75975	-0.3128	10	0.44086	T	0.13	-20.292	9.3944	0.38392	0.857:0.0:0.143:0.0	.	217	Q9BUB7	TMM70_HUMAN	N	217	ENSP00000312599:K217N	ENSP00000312599:K217N	K	+	3	2	TMEM70	75056278	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	2.179000	0.42528	0.508000	0.28173	0.533000	0.62120	AAA		0.343	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		C	74893724	A	C	74893724	3	2	56	1	0	0	0	0	1	0	0	0	16196	98	4	5	669	5	TMEM70	8	74893724	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	38199866	74893724	71470298	53	3583											
KIAA0196	9897	broad.mit.edu	37	chr8	126056120	126056120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgttttggcaatggCggaaaaataaattttatttg	11	17	9	4	1	1	0	0	0	1	0	1	1	1	1	0	3	0	2	0	3	6	7	rs541330058		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:126056120C>T	ENST00000318410.7	-	23	3146	c.2797G>A	c.(2797-2799)Gcc>Acc	p.A933T	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.A785T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	933					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGGCAATGGCGGAAAAATAA	0.353																																						uc003yrt.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(2797-2799)Gcc>Acc		Homo sapiens KIAA0196 (KIAA0196), mRNA.							74	70	71					8																	126056120		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126056120C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2797G>A	8.37:g.126056120C>T	ENSP00000318016:p.Ala933Thr					KIAA0196_uc011lir.2_Missense_Mutation_p.A785T	p.A933T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		22	3126	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		933					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2797G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636365	0.67130	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86297	-2.1;-2.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.966;0.999	B;D	0.79784	0.362;0.993	D	0.89087	0.3480	10	0.22706	T	0.39	-15.7371	19.8585	0.96775	0.0:1.0:0.0:0.0	.	785;933	E7EQI7;Q12768	.;STRUM_HUMAN	T	933;785	ENSP00000318016:A933T;ENSP00000429676:A785T	ENSP00000318016:A933T	A	-	1	0	KIAA0196	126125302	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.772000	0.85439	2.760000	0.94817	0.655000	0.94253	GCC		0.353	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		T	126056120	C	T	126056120	3	4	56	1	0	0	0	0	1	0	0	0	8161	768	27	1	710	1	KIAA0196	8	126056120	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	51162396	126056120	20307902	54	3584											
GPR20	2843	broad.mit.edu	37	chr8	142367229	142367229	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcatgtcgggccacagCgccacggccacttggcgggc	5	6	16	14	4	0	0	0	0	0	0	1	0	0	0	3	5	1	1	3	5	0	1	rs372583253		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:142367229C>A	ENST00000377741.3	-	2	885	c.795G>T	c.(793-795)gcG>gcT	p.A265A	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	265					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657																																						uc022bby.1																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(793-795)gcG>gcT		Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.							46	36	39					8																	142367229		2201	4300	6501	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367229C>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.795G>T	8.37:g.142367229C>A						GPR20_uc003ywf.3_Silent_p.A265A	p.A265A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		0	795	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		265					Q17R96	Silent	SNP	ENST00000377741.3	37	c.795G>T	CCDS34949.1																																																																																				0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367229	C	A	142367229	2	1	56	1	0	0	0	0	0	0	0	1	6680	755	27	5		5	GPR20	8	142367229	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	16311109	142367229	3996793	55	3585											
SMARCA2	6595	broad.mit.edu	37	chr9	2104169	2104169	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttacctacgccttgatGgtaagtgcataaggcattag	10	13	9	9	1	0	1	0	1	0	0	1	1	1	1	3	2	3	3	3	2	5	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:2104169G>A	ENST00000382203.1	+	23	3501	c.3292G>A	c.(3292-3294)Ggc>Agc	p.G1098S	SMARCA2_ENST00000357248.2_Splice_Site_p.G1098S|SMARCA2_ENST00000349721.2_Splice_Site_p.G1098S|SMARCA2_ENST00000382194.1_Splice_Site_p.G1098S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1098	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCCTTGATGGTAAGTGCAT	0.438																																						uc003zhc.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.e23+1		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.							128	110	116					9																	2104169		2203	4300	6503	SO:0001630	splice_region_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2104169G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3292+1G>A	9.37:g.2104169G>A						SMARCA2_uc003zhd.3_Splice_Site_p.G1098_splice|SMARCA2_uc010mha.3_Splice_Site_p.G1031_splice	p.G1098_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	23	3391	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1098			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3292_splice	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072442	0.93950	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97042	0.9758	10	0.87932	D	0	-17.4585	19.7949	0.96477	0.0:0.0:1.0:0.0	.	699;1098;1098	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	1098	ENSP00000265773:G1098S;ENSP00000349788:G1098S;ENSP00000371638:G1098S;ENSP00000371629:G1098S	ENSP00000265773:G1098S	G	+	1	0	SMARCA2	2094169	1.000000	0.71417	0.985000	0.45067	0.685000	0.39939	9.813000	0.99286	2.679000	0.91253	0.557000	0.71058	GGC		0.438	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	Missense_Mutation	A	2104169	G	A	2104169	5	1	56	1	0	0	0	0	0	0	1	0	14769	1362	47	3	3378	3	SMARCA2	9	2104169	Splice_Site	SNP	G	TCGA-06-0649-01B-01W-0348-08		2104169	139109262	56	3586											
KIAA2026	158358	broad.mit.edu	37	chr9	5944873	5944874	+	Frame_Shift_Ins	INS	-	-	T																															tttggatcaacacctaccgaINStttttttctactgttttcca																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:5944873_5944874insT	ENST00000399933.3	-	5	2378_2379	c.2379_2380insA	c.(2377-2382)aaatcgfs	p.S794fs	KIAA2026_ENST00000381461.2_Intron	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	794										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACACCTACCGATTTTTTTCTAC	0.307																																						uc003zjq.4																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2377-2382)aaatcgfs		Homo sapiens KIAA2026 (KIAA2026), mRNA.																																				SO:0001589	frameshift_variant	158358							g.chr9:5944873_5944874insT	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2380dupA	9.37:g.5944880_5944880dupT	ENSP00000382815:p.Ser794fs					KIAA2026_uc010mht.3_Intron	p.K793fs	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	4	2595_2596	-		Acute lymphoblastic leukemia(23;0.158)	793					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Ins	INS	ENST00000399933.3	37	c.2379_2380insA																																																																																					0.307	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		T	5944874	-	T	5944873	7	5	56	1	0	1	1	0	0	0	0	0	8270	333	12	0	3947	0	KIAA2026	9	5944873	Frame_Shift_Ins	INS	-	TCGA-06-0649-01B-01W-0348-08	3840704	5944873	135268558	57	3587											
TRPM3	80036	broad.mit.edu	37	chr9	73152156	73152156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcctcgagcggattttGttggactcggcccgctccag	5	10	14	12	4	0	0	0	0	0	0	4	4	2	2	3	4	1	2	3	4	0	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:73152156G>T	ENST00000377111.2	-	25	4080	c.3837C>A	c.(3835-3837)aaC>aaA	p.N1279K	TRPM3_ENST00000396280.5_Missense_Mutation_p.N1128K|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1138K|TRPM3_ENST00000377110.3_Missense_Mutation_p.N1279K|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1138K|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1151K|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1141K|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1283K|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1138K|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1306K|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1141K|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1151K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1304					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCGGATTTTGTTGGACTCGG	0.627																																						uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3835-3837)aaC>aaA		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							81	79	80					9																	73152156		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152156G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3837C>A	9.37:g.73152156G>T	ENSP00000366315:p.Asn1279Lys					TRPM3_uc004ahu.3_Missense_Mutation_p.N1121K|TRPM3_uc004ahv.3_Missense_Mutation_p.N1081K|TRPM3_uc004ahw.3_Missense_Mutation_p.N1151K|TRPM3_uc004ahx.3_Missense_Mutation_p.N1138K|TRPM3_uc004ahy.3_Missense_Mutation_p.N1141K|TRPM3_uc004ahz.3_Missense_Mutation_p.N1128K|TRPM3_uc004aia.3_Missense_Mutation_p.N1126K|TRPM3_uc004aib.3_Missense_Mutation_p.N1116K|TRPM3_uc004aic.3_Missense_Mutation_p.N1279K	p.N1279K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			24	4081	-			1304					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3837C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.961|8.961	0.970644|0.970644	0.18659|0.18659	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01|.	6.17|6.17	2.88|2.88	0.33553|0.33553	.|.	0.279246|.	0.39834|.	N|.	0.001241|.	T|T	0.46889|0.46889	0.1416|0.1416	L|L	0.36672|0.36672	1.1|1.1	0.38234|0.38234	D|D	0.941119|0.941119	B;B;B;B;B;B;B;B|.	0.21753|.	0.006;0.005;0.034;0.009;0.004;0.06;0.003;0.029|.	B;B;B;B;B;B;B;B|.	0.25614|.	0.039;0.037;0.062;0.017;0.017;0.029;0.039;0.015|.	T|T	0.41484|0.41484	-0.9506|-0.9506	10|5	0.06365|.	T|.	0.9|.	-21.219|-21.219	9.0252|9.0252	0.36224|0.36224	0.2094:0.1248:0.6659:0.0|0.2094:0.1248:0.6659:0.0	.|.	1279;1279;1269;1283;1141;1138;1251;1138|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|K	1279;1279;1151;1141;1138;1283;1138;1138;1151;1141;1306|1128	ENSP00000366315:N1279K;ENSP00000366314:N1279K;ENSP00000366310:N1151K;ENSP00000354066:N1141K;ENSP00000366309:N1138K;ENSP00000350140:N1283K;ENSP00000386127:N1138K;ENSP00000379581:N1138K;ENSP00000379587:N1151K;ENSP00000350791:N1141K;ENSP00000389542:N1306K|.	ENSP00000350140:N1283K|.	N|Q	-|-	3|1	2|0	TRPM3|TRPM3	72341976|72341976	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.519000|0.519000	0.22862|0.22862	0.905000|0.905000	0.36596|0.36596	0.655000|0.655000	0.94253|0.94253	AAC|CAA		0.627	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73152156	G	T	73152156	3	4	56	1	0	0	0	0	1	0	0	0	16584	1368	48	5	1290	5	TRPM3	9	73152156	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	67207283	73152156	68061275	58	3588											
TRPM6	140803	broad.mit.edu	37	chr9	77377948	77377948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtcagggcagagagAtcctgcaggtgtcccacctg	9	7	12	13	0	1	2	1	0	0	2	4	3	4	2	4	2	1	2	4	2	0	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:77377948A>G	ENST00000360774.1	-	26	3876	c.3639T>C	c.(3637-3639)gaT>gaC	p.D1213D	TRPM6_ENST00000361255.3_Silent_p.D1208D|TRPM6_ENST00000449912.2_Silent_p.D1208D|TRPM6_ENST00000451710.3_Silent_p.D1213D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.D1213D|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1213					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGCAGAGAGATCCTGCAGGT	0.463																																						uc004ajl.1																			0		p.Q1212*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3637-3639)gaT>gaC		Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.							82	85	84					9																	77377948		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377948A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3639T>C	9.37:g.77377948A>G						TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc022bib.1_Silent_p.D1208D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	p.D1213D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			25	3877	-			1213					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.3639T>C	CCDS6647.1																																																																																				0.463	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		G	77377948	A	G	77377948	2	3	56	1	0	0	0	0	0	0	0	1	16587	330	12	4		4	TRPM6	9	77377948	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08	4225792	77377948	63835483	59	3589											
TTC16	158248	broad.mit.edu	37	chr9	130489287	130489287	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctcttcccgggcatgtcGgtggaggaggtgcttagcac	7	9	14	11	2	1	0	0	0	1	0	3	2	2	2	2	5	3	3	2	5	2	2	rs191374012		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:130489287G>T	ENST00000373289.3	+	11	1544	c.1464G>T	c.(1462-1464)tcG>tcT	p.S488S	PTRH1_ENST00000419060.1_5'Flank|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	488										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGGGCATGTCGGTGGAGGAGG	0.642																																						uc004brq.1																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1462-1464)tcG>tcT		Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.							76	76	76					9																	130489287		2203	4300	6503	SO:0001819	synonymous_variant	158248						binding	g.chr9:130489287G>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1464G>T	9.37:g.130489287G>T						PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	p.S488S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			10	1531	+			488					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.1464G>T	CCDS6875.1																																																																																				0.642	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		T	130489287	G	T	130489287	2	4	56	1	0	0	0	0	0	0	0	1	16680	1103	39	5		5	TTC16	9	130489287	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	53111339	130489287	10724144	60	3590											
RXRA	6256	broad.mit.edu	37	chr9	137309139	137309139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcccaagaccgagacctAcgtggaggcaaacatggggc	12	3	15	11	2	0	2	0	0	0	2	0	5	0	4	3	5	3	1	3	5	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:137309139A>T	ENST00000481739.1	+	5	798	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.Y152F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	249	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	ACCGAGACCTACGTGGAGGCA	0.622																																						uc004cfb.2																			0		p.T248T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(745-747)tAc>tTc		Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						145	108	120					9																	137309139		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137309139A>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.746A>T	9.37:g.137309139A>T	ENSP00000419692:p.Tyr249Phe					RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	p.Y249F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	908	+			249			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.746A>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	A	7.905	0.735162	0.15574	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.51071	0.72;0.72	4.45	3.3	0.37823	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.54908	1.71	0.58432	D	0.999995	B;B	0.11235	0.0;0.004	B;B	0.09377	0.001;0.004	T	0.13926	-1.0491	10	0.13470	T	0.59	.	9.9662	0.41725	0.9177:0.0:0.0823:0.0	.	152;249	B3KY83;P19793	.;RXRA_HUMAN	F	249;152	ENSP00000419692:Y249F;ENSP00000442123:Y152F	ENSP00000419692:Y249F	Y	+	2	0	RXRA	136448960	1.000000	0.71417	0.925000	0.36789	0.085000	0.17905	5.497000	0.66924	0.656000	0.30886	-0.464000	0.05259	TAC		0.622	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		T	137309139	A	T	137309139	3	4	56	1	0	0	0	0	1	0	0	0	13763	391	14	5	764	5	RXRA	9	137309139	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	6819852	137309139	3904292	61	3591											
ERCC6	2074	broad.mit.edu	37	chr10	50667268	50667268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcttttccctccttttTcatgatgccatcctataaaa	10	18	2	11	0	2	1	1	1	1	0	5	1	5	1	4	0	1	0	4	0	4	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:50667268T>C	ENST00000355832.5	-	21	4153	c.4075A>G	c.(4075-4077)Aaa>Gaa	p.K1359E	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.K729E	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1359					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTCCTTTTTCATGATGCCA	0.443								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4075-4077)Aaa>Gaa	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							94	103	100					10																	50667268		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667268T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4075A>G	10.37:g.50667268T>C	ENSP00000348089:p.Lys1359Glu					ERCC6_uc009xod.3_Missense_Mutation_p.K519E|ERCC6_uc010qgr.2_Missense_Mutation_p.K729E|ERCC6_uc001jhr.4_Missense_Mutation_p.K727E	p.K1359E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			20	4229	-			1359					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4075A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030938	0.54790	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83673	-1.75;-1.48	5.43	2.91	0.33838	.	.	.	.	.	T	0.74068	0.3668	L	0.57536	1.79	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.004	T	0.56402	-0.7985	9	0.07175	T	0.84	-6.3467	5.5289	0.16972	0.0:0.163:0.1457:0.6914	.	1359;736	Q03468;Q59FF6	ERCC6_HUMAN;.	E	1359;736;729	ENSP00000348089:K1359E;ENSP00000445134:K729E	ENSP00000348089:K1359E	K	-	1	0	ERCC6	50337274	1.000000	0.71417	0.012000	0.15200	0.962000	0.63368	3.418000	0.52721	0.994000	0.38892	0.533000	0.62120	AAA		0.443	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		C	50667268	T	C	50667268	3	2	56	1	0	0	0	0	1	0	0	0	5217	1792	62	4	410	4	ERCC6	10	50667268	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		50667268	84867479	62	3592											
PCDH15	65217	broad.mit.edu	37	chr10	55582616	55582616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttcagttgtaagcaatgGattgctgctacctcttttgt	7	17	8	9	0	3	0	1	0	2	0	3	1	3	1	1	1	4	5	1	1	3	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:55582616G>A	ENST00000320301.6	-	33	5264	c.4870C>T	c.(4870-4872)Cca>Tca	p.P1624S	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1621S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1584S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1601S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1555S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1626S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1624					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTAAGCAATGGATTGCTGCTA	0.418										HNSCC(58;0.16)																												uc010qhy.1																			0		p.A1631V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4891-4893)Cca>Tca		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							197	194	195					10																	55582616		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582616G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4870C>T	10.37:g.55582616G>A	ENSP00000322604:p.Pro1624Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1626S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1601S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1621S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1584S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1555S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1626S|PCDH15_uc010qia.1_Missense_Mutation_p.P1604S|PCDH15_uc001jju.1_Missense_Mutation_p.P1624S|PCDH15_uc010qib.1_Missense_Mutation_p.P1601S	p.P1631S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN			34	5286	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1624					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4891C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652708	0.29336	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56611	0.47;0.45;0.49;0.45;0.45;0.45	5.1	-0.102	0.13613	.	.	.	.	.	T	0.37812	0.1017	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B;B	0.15473	0.005;0.002;0.002;0.002;0.013;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.12156	0.006;0.004;0.004;0.004;0.007;0.004;0.004;0.004	T	0.27571	-1.0070	9	0.14656	T	0.56	.	6.839	0.23953	0.2744:0.1186:0.607:0.0	.	1601;1624;1626;1631;1555;1584;1621;1624	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	S	1584;1626;1601;1624;1621;1631;1555	ENSP00000378820:P1584S;ENSP00000354950:P1626S;ENSP00000378821:P1601S;ENSP00000322604:P1624S;ENSP00000378818:P1621S;ENSP00000412628:P1555S	ENSP00000322604:P1624S	P	-	1	0	PCDH15	55252622	0.163000	0.22920	0.000000	0.03702	0.233000	0.25261	1.013000	0.29937	0.170000	0.19704	0.655000	0.94253	CCA		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55582616	G	A	55582616	3	1	56	1	0	0	0	0	1	0	0	0	11511	1174	41	3	2607	3	PCDH15	10	55582616	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	4915348	55582616	79952131	63	3593											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292|rs121909224		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:89692904C>G	ENST00000371953.3	+	5	1745	c.388C>G	c.(388-390)Cga>Gga	p.R130G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Gga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141	131	134					10																	89692904		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>G	10.37:g.89692904C>G	ENSP00000361021:p.Arg130Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130G	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.388C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305770	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.98362	-4.89	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97828	1.0261	9	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	130	P60484	PTEN_HUMAN	G	130	ENSP00000361021:R130G	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89692904	C	G	89692904	3	3	56	1	0	0	0	0	1	0	0	0	12738	528	19	5	406	5	PTEN	10	89692904	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	34110288	89692904	45841843	64	3594											
HTR7	3363	broad.mit.edu	37	chr10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcggtagagtaaatcGtatagccaaagtcctggctg	11	9	11	10	2	0	1	0	0	0	1	2	1	1	1	3	2	2	4	3	2	6	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:92509172G>A	ENST00000336152.3	-	2	745	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HTR7_ENST00000277874.6_Missense_Mutation_p.T240M|HTR7_ENST00000371721.3_Missense_Mutation_p.T240M|HTR7_ENST00000371719.2_Missense_Mutation_p.T240M	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	240					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473																																						uc001kha.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(718-720)aCg>aTg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						89	94	92					10																	92509172		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509172G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.719C>T	10.37:g.92509172G>A	ENSP00000337949:p.Thr240Met					HTR7_uc001kgz.3_Missense_Mutation_p.T240M|HTR7_uc001khb.3_Missense_Mutation_p.T240M	p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN			1	962	-			240					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.719C>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589626	0.86851	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.63418	-0.6642	10	0.72032	D	0.01	.	20.0697	0.97716	0.0:0.0:1.0:0.0	.	240;240	P34969;P34969-2	5HT7R_HUMAN;.	M	240	ENSP00000337949:T240M;ENSP00000277874:T240M;ENSP00000360784:T240M;ENSP00000360786:T240M	ENSP00000277874:T240M	T	-	2	0	HTR7	92499152	1.000000	0.71417	0.971000	0.41717	0.969000	0.65631	9.869000	0.99810	2.756000	0.94617	0.650000	0.86243	ACG		0.473	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		A	92509172	G	A	92509172	3	1	56	1	0	0	0	0	1	0	0	0	7452	1145	40	1	736	1	HTR7	10	92509172	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	2816268	92509172	43025575	65	3595											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060363	116060363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccatgcagaaaggacttGacaggtgtgaggtccaggta	11	7	16	7	0	0	3	0	2	0	1	1	4	1	4	2	5	1	2	2	5	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:116060363G>A	ENST00000304129.4	-	14	1658	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_Silent_p.V543V|AFAP1L2_ENST00000545353.1_Silent_p.V596V			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	543					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAAAGGACTTGACAGGTGTGA	0.602																																						uc001lbn.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1627-1629)gtC>gtT		Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.							107	97	100					10																	116060363		2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060363G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1629C>T	10.37:g.116060363G>A						AFAP1L2_uc001lbo.3_Silent_p.V543V|AFAP1L2_uc010qse.2_Silent_p.V596V|AFAP1L2_uc001lbp.3_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.3_Intron|AFAP1L2_uc010qsd.2_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	p.V543V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	13	1930	-		Colorectal(252;0.175)|Breast(234;0.231)	543					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.1629C>T	CCDS31286.1																																																																																				0.602	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		A	116060363	G	A	116060363	2	1	56	1	0	0	0	0	0	0	0	1	355	1277	45	3		3	AFAP1L2	10	116060363	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	23551191	116060363	19474384	66	3596											
ATRNL1	26033	broad.mit.edu	37	chr10	117607492	117607492	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaggtgcccctcccccTgggcagtcaggtatgataaa	9	9	10	13	0	3	1	3	1	0	0	4	1	4	1	4	3	1	2	4	3	3	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:117607492T>G	ENST00000355044.3	+	28	4134	c.4008T>G	c.(4006-4008)ccT>ccG	p.P1336P	ATRNL1_ENST00000423111.2_Silent_p.P387P|ATRNL1_ENST00000303745.7_Silent_p.P129P	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1336					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCCTCCCCCTGGGCAGTCAG	0.468																																						uc001lcg.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4006-4008)ccT>ccG		Homo sapiens attractin-like 1 (ATRNL1), mRNA.							97	87	90					10																	117607492		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117607492T>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.4008T>G	10.37:g.117607492T>G						ATRNL1_uc010qsm.2_Silent_p.P465P|ATRNL1_uc010qsn.2_Non-coding_Transcript	p.P1336P	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	4394	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1336					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.4008T>G	CCDS7592.1																																																																																				0.468	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		G	117607492	T	G	117607492	2	3	56	1	0	0	0	0	0	0	0	1	1207	1567	55	5		5	ATRNL1	10	117607492	Silent	SNP	T	TCGA-06-0649-01B-01W-0348-08	1547129	117607492	17927255	67	3597											
MKI67	4288	broad.mit.edu	37	chr10	129913850	129913850	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaaaccatcagcactttcTttctctgttgcgtaatcagt	9	16	6	10	1	4	0	2	0	2	0	5	0	4	0	1	0	3	4	1	0	3	5	rs201790456		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:129913850T>A	ENST00000368654.3	-	7	1197	c.822A>T	c.(820-822)aaA>aaT	p.K274N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	274					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGCACTTTCTTTCTCTGTTG	0.443																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(820-822)aaA>aaT		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							89	93	91					10																	129913850		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913850T>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.822A>T	10.37:g.129913850T>A	ENSP00000357643:p.Lys274Asn					MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.K274N	NM_002417	NP_002408	P46013	KI67_HUMAN			6	1017	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	274					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.822A>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683617	0.29872	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.26223	1.75	3.59	-3.62	0.04543	.	1.305960	0.05418	N	0.543639	T	0.09512	0.0234	N	0.04508	-0.205	0.09310	N	1	B	0.28636	0.218	B	0.21546	0.035	T	0.20042	-1.0287	10	0.87932	D	0	.	1.3432	0.02158	0.1517:0.3556:0.2112:0.2816	.	274	P46013	KI67_HUMAN	N	274	ENSP00000357643:K274N	ENSP00000357643:K274N	K	-	3	2	MKI67	129803840	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.560000	0.05964	-0.736000	0.04831	-0.250000	0.11733	AAA		0.443	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129913850	T	A	129913850	3	1	56	1	0	0	0	0	1	0	0	0	9598	1606	56	5	8984	5	MKI67	10	129913850	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	12306358	129913850	5620897	68	3598											
CHRNA10	57053	broad.mit.edu	37	chr11	3687530	3687530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctggcggcacagacatCgtggctcgtggcaagggccc	6	7	14	14	3	0	1	0	0	0	1	3	1	1	1	2	5	0	3	2	5	1	1	rs148252978	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:3687530C>T	ENST00000250699.2	-	5	1231	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000364409.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	387					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GCACAGACATCGTGGCTCGTG	0.667													C|||	3	0.000599042	0.0023	0	5008	,	,		16547	0		0	False		,,,				2504	0				Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1159-1161)cGa>cAa		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	C	GLN/ARG	5,4397	9.9+/-24.2	0,5,2196	66	69	68		1160	0.3	0.1	11	dbSNP_134	68	0,8596		0,0,4298	no	missense	CHRNA10	NM_020402.2	43	0,5,6494	TT,TC,CC		0.0,0.1136,0.0385	benign	387/451	3687530	5,12993	2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687530C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1160G>A	11.37:g.3687530C>T	ENSP00000250699:p.Arg387Gln					CHRNA10_uc010qxt.2_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.2_Missense_Mutation_p.R181Q	p.R387Q	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	1232	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	387						Missense_Mutation	SNP	ENST00000250699.2	37	c.1160G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511294	0.27036	0.001136	0.0	ENSG00000129749	ENST00000250699	T	0.69926	-0.44	5.61	0.335	0.15953	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.705140	0.03595	N	0.232417	T	0.55000	0.1893	L	0.36672	1.1	0.25890	N	0.98349	B	0.21905	0.062	B	0.15052	0.012	T	0.27571	-1.0070	10	0.20519	T	0.43	.	7.8299	0.29336	0.0:0.543:0.0:0.457	.	387	Q9GZZ6	ACH10_HUMAN	Q	387	ENSP00000250699:R387Q	ENSP00000250699:R387Q	R	-	2	0	CHRNA10	3644106	0.000000	0.05858	0.137000	0.22149	0.726000	0.41606	-0.911000	0.04050	0.019000	0.15079	-0.367000	0.07326	CGA		0.667	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			T	3687530	C	T	3687530	3	4	56	1	0	0	0	0	1	0	0	0	3382	884	31	2	196	2	CHRNA10	11	3687530	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		3687530	131318986	69	3599											
OR5I1	10798	broad.mit.edu	37	chr11	55703265	55703265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatttccactgagctgccGtatgtggagaggagccactc	9	10	12	10	1	0	3	0	2	0	1	2	5	1	4	3	2	3	2	3	2	1	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:55703265G>A	ENST00000301532.3	-	1	611	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	204					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAGCTGCCGTATGTGGAGA	0.403																																						uc010ris.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(610-612)taC>taT		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							41	46	45					11																	55703265		2200	4293	6493	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703265G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.612C>T	11.37:g.55703265G>A							p.Y204Y	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	612	-			204					Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.612C>T	CCDS7949.1																																																																																				0.403	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		A	55703265	G	A	55703265	2	1	56	1	0	0	0	0	0	0	0	1	11164	1140	40	1		1	OR5I1	11	55703265	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	52015735	55703265	79303251	70	3600											
TCN1	6947	broad.mit.edu	37	chr11	59630104	59630104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttctagcttgtcgatcagGtggtaatcatatattaagtt	10	18	8	5	1	3	0	2	0	1	0	4	1	3	0	0	2	1	3	0	2	5	9			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:59630104G>T	ENST00000257264.3	-	3	455	c.351C>A	c.(349-351)caC>caA	p.H117Q	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	117	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCGATCAGGTGGTAATCAT	0.383																																						uc001noj.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(349-351)caC>caA		Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						147	142	143					11																	59630104		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630104G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.351C>A	11.37:g.59630104G>T	ENSP00000257264:p.His117Gln						p.H117Q	NM_001062	NP_001053	P20061	TCO1_HUMAN			2	449	-		all_epithelial(135;0.198)	117					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.351C>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	3.684	-0.064925	0.07273	.	.	ENSG00000134827	ENST00000257264	T	0.34472	1.36	5.43	-2.5	0.06384	.	0.778678	0.11119	N	0.597638	T	0.25195	0.0612	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.24941	-1.0146	10	0.51188	T	0.08	.	5.1809	0.15160	0.5294:0.0:0.3213:0.1493	.	117	P20061	TCO1_HUMAN	Q	117	ENSP00000257264:H117Q	ENSP00000257264:H117Q	H	-	3	2	TCN1	59386680	0.000000	0.05858	0.002000	0.10522	0.048000	0.14542	-2.526000	0.00947	-0.460000	0.07003	0.650000	0.86243	CAC		0.383	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		T	59630104	G	T	59630104	3	4	56	1	0	0	0	0	1	0	0	0	15703	1252	44	5	978	5	TCN1	11	59630104	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	3926839	59630104	75376412	71	3601											
FAT3	120114	broad.mit.edu	37	chr11	92624150	92624150	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggcacctcatcctcGgatgtgtctgccaactgcgg	7	9	11	14	2	2	1	1	0	1	1	5	2	4	2	4	3	3	1	4	3	1	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:92624150G>C	ENST00000298047.6	+	27	13658	c.13641G>C	c.(13639-13641)tcG>tcC	p.S4547S	FAT3_ENST00000409404.2_Silent_p.S4515S|FAT3_ENST00000533797.1_Silent_p.S850S|FAT3_ENST00000525166.1_Silent_p.S4397S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4547					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTCATCCTCGGATGTGTCTG	0.557										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(13543-13545)tcG>tcC		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							39	41	40					11																	92624150		2064	4204	6268	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624150G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13641G>C	11.37:g.92624150G>C		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.4_Silent_p.S987S	p.S4515S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			24	13562	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4547					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.13545G>C																																																																																					0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92624150	G	C	92624150	2	2	56	1	0	0	0	0	0	0	0	1	5691	1103	39	5		5	FAT3	11	92624150	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	32994046	92624150	42382366	72	3602											
MMP20	9313	broad.mit.edu	37	chr11	102477401	102477401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccaggaatactttcCgaggtcctaggattcaaaat	11	11	8	11	1	1	0	1	0	0	0	4	3	4	2	4	3	1	1	4	3	5	5	rs141875245	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:102477401C>T	ENST00000260228.2	-	6	830	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	RP11-817J15.2_ENST00000544115.1_RNA|RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	292					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GAATACTTTCCGAGGTCCTAG	0.522																																						uc001phc.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-819)cGg>cAg		Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	90	91	91		818	4.5	1	11	dbSNP_134	91	2,8596	2.2+/-6.3	0,2,4297	yes	missense	MMP20	NM_004771.3	43	0,4,6498	TT,TC,CC		0.0233,0.0454,0.0308	benign	273/484	102477401	4,13000	2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477401C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.818G>A	11.37:g.102477401C>T	ENSP00000260228:p.Arg273Gln						p.R273Q	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	5	831	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	273					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.818G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	9.164	1.019441	0.19355	4.54E-4	2.33E-4	ENSG00000137674	ENST00000260228	T	0.52057	0.68	5.45	4.54	0.55810	Metallopeptidase, catalytic domain (1);	0.084638	0.48767	D	0.000162	T	0.24699	0.0599	N	0.08118	0	0.37485	D	0.916149	B	0.19583	0.037	B	0.17433	0.018	T	0.13899	-1.0492	10	0.22706	T	0.39	.	8.3538	0.32318	0.0:0.828:0.0:0.172	.	273	O60882	MMP20_HUMAN	Q	273	ENSP00000260228:R273Q	ENSP00000260228:R273Q	R	-	2	0	MMP20	101982611	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	1.680000	0.37607	1.536000	0.49237	0.650000	0.86243	CGG		0.522	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			T	102477401	C	T	102477401	3	4	56	1	0	0	0	0	1	0	0	0	9659	652	23	2	653	2	MMP20	11	102477401	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	9853251	102477401	32529115	73	3603											
ARHGAP32	9743	broad.mit.edu	37	chr11	128994764	128994764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagagtaagatctccaggaAtctctggaacatctgcgcct	12	10	9	10	1	3	2	0	0	3	2	5	4	3	4	2	2	2	1	2	2	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:128994764A>G	ENST00000310343.9	-	3	250	c.251T>C	c.(250-252)aTt>aCt	p.I84T	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.I10T	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	84					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTCCAGGAATCTCTGGAAC	0.328																																						uc009zcp.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(250-252)aTt>aCt		Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.							126	114	118					11																	128994764		1566	3578	5144	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128994764A>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.251T>C	11.37:g.128994764A>G	ENSP00000310561:p.Ile84Thr					ARHGAP32_uc009zcq.2_Missense_Mutation_p.I44T	p.I84T	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN			2	251	-			84					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.251T>C	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931189	0.52866	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.32272	1.46;1.46;1.46	5.82	5.82	0.92795	.	.	.	.	.	T	0.37433	0.1003	L	0.29908	0.895	0.80722	D	1	B;D	0.59357	0.048;0.985	B;P	0.55999	0.008;0.789	T	0.06972	-1.0797	9	0.38643	T	0.18	.	15.0079	0.71527	1.0:0.0:0.0:0.0	.	18;84	Q86T64;A7KAX9	.;RHG32_HUMAN	T	84;10;18;44	ENSP00000310561:I84T;ENSP00000432468:I10T;ENSP00000432303:I44T	ENSP00000310561:I84T	I	-	2	0	ARHGAP32	128499974	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.181000	0.58303	2.222000	0.72286	0.533000	0.62120	ATT		0.328	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		G	128994764	A	G	128994764	3	3	56	1	0	0	0	0	1	0	0	0	881	101	4	4	6092	4	ARHGAP32	11	128994764	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	26517363	128994764	6011752	74	3604											
CACNA1C	775	broad.mit.edu	37	chr12	2786282	2786282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggtcaccgttggcaaGttctacgccacgttcctgat	8	11	11	11	3	2	2	1	2	1	0	3	3	3	2	3	2	1	4	3	2	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:2786282G>T	ENST00000347598.4	+	42	4995	c.4995G>T	c.(4993-4995)aaG>aaT	p.K1665N	CACNA1C_ENST00000335762.5_Missense_Mutation_p.K1642N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K1634N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K1645N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K1617N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K1636N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K1625N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K1636N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K1623N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K1636N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K1625N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K1637N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K1658N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K1617N|CACNA1C-AS1_ENST00000501371.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1665					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGTTGGCAAGTTCTACGCCA	0.527																																						uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4993-4995)aaG>aaT		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						38	40	39					12																	2786282		2075	4242	6317	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2786282G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4995G>T	12.37:g.2786282G>T	ENSP00000266376:p.Lys1665Asn					CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkj.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkk.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkm.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	p.K1665N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	41	5308	+			1665					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4995G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820332	0.71028	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	4.33	2.45	0.29901	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.055528	0.64402	D	0.000001	D	0.95787	0.8629	M	0.78456	2.415	0.58432	D	0.999999	P;P;P;D;P;P;P;P;D;D;P;P;D;P;P;P;P;D;B;D;D;P;P;D;D	0.89917	0.951;0.73;0.726;0.997;0.604;0.765;0.726;0.64;1.0;0.996;0.765;0.825;0.986;0.64;0.549;0.88;0.763;1.0;0.404;1.0;1.0;0.765;0.853;1.0;1.0	P;B;B;D;B;B;B;B;D;D;B;P;D;P;B;P;B;D;B;D;D;B;P;D;D	0.97110	0.79;0.156;0.261;0.981;0.156;0.353;0.279;0.353;1.0;0.976;0.353;0.529;0.913;0.543;0.129;0.833;0.288;1.0;0.108;1.0;0.997;0.353;0.686;0.997;0.997	D	0.95365	0.8459	10	0.87932	D	0	.	10.6349	0.45558	0.1615:0.0:0.8385:0.0	.	308;1658;1614;1665;1617;1636;1617;1634;1645;1617;1637;1617;1577;1665;1617;1617;1617;1625;1623;1625;1606;1636;1636;1617;1617	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	1642;1617;1617;1645;1617;1636;1636;1625;1617;1665;1637;1617;1658;1634;1617;1623;1636;1617;1617;1617;1617;1625;1447	ENSP00000336982:K1642N;ENSP00000382563:K1617N;ENSP00000382552:K1617N;ENSP00000382547:K1645N;ENSP00000382506:K1617N;ENSP00000382530:K1636N;ENSP00000382546:K1636N;ENSP00000382500:K1625N;ENSP00000382549:K1617N;ENSP00000266376:K1665N;ENSP00000382515:K1637N;ENSP00000382510:K1617N;ENSP00000341092:K1658N;ENSP00000382537:K1634N;ENSP00000329877:K1617N;ENSP00000382557:K1623N;ENSP00000385724:K1636N;ENSP00000382512:K1617N;ENSP00000382542:K1617N;ENSP00000382526:K1617N;ENSP00000385896:K1617N;ENSP00000382504:K1625N	ENSP00000323129:K1447N	K	+	3	2	CACNA1C	2656543	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.963000	0.56773	1.064000	0.40671	0.455000	0.32223	AAG		0.527	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2786282	G	T	2786282	3	4	56	1	0	0	0	0	1	0	0	0	2540	1020	36	5	5392	5	CACNA1C	12	2786282	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2786282	131065613	75	3605											
KLRG1	10219	broad.mit.edu	37	chr12	9144889	9144889	+	Frame_Shift_Del	DEL	A	A	-																															tctgagtgtgctgctataccAgtggatcctgtgccagggta																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9144889delA	ENST00000266551.4	+	2	185	c.170delA	c.(169-171)cagfs	p.Q57fs	KLRG1_ENST00000538029.1_Intron|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000356986.3_Frame_Shift_Del_p.Q57fs	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	57					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGCTATACCAGTGGATCCTG	0.398																																						uc001qvh.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(169-171)cagfs		Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.							212	198	203					12																	9144889		2203	4300	6503	SO:0001589	frameshift_variant	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9144889delA	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.170delA	12.37:g.9144889delA	ENSP00000266551:p.Gln57fs					KLRG1_uc001qvg.3_Frame_Shift_Del_p.Q57fs	p.Q57fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			1	181	+			57					B7ZAM2|O43198|O75613	Frame_Shift_Del	DEL	ENST00000266551.4	37	c.170delA																																																																																					0.398	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		-	9144889	A	-	9144889	7	5	56	1	0	1	0	1	0	0	0	0	8421	188	7	0	176	0	KLRG1	12	9144889	Frame_Shift_Del	DEL	A	TCGA-06-0649-01B-01W-0348-08	6358607	9144889	124707006	76	3606											
PZP	5858	broad.mit.edu	37	chr12	9345129	9345129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaatggaaactgagctcCgataactctcccatggcctg	11	9	10	11	1	1	1	0	1	1	0	3	3	2	2	3	3	3	2	3	3	3	2	rs374450463		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9345129C>T	ENST00000261336.2	-	12	1489	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S	PZP_ENST00000381997.2_Silent_p.S356S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	487					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACTGAGCTCCGATAACTCTC	0.483																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1459-1461)tcG>tcA		Homo sapiens pregnancy-zone protein (PZP), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	79	75	76		1461	-4	0	12		76	0,8600		0,0,4300	no	coding-synonymous	PZP	NM_002864.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		487/1483	9345129	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9345129C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1461G>A	12.37:g.9345129C>T						PZP_uc009zgl.3_Silent_p.S356S	p.S487S	NM_002864	NP_002855					11	1490	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1461G>A	CCDS8600.1																																																																																				0.483	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9345129	C	T	9345129	2	4	56	1	0	0	0	0	0	0	0	1	12869	639	23	2		2	PZP	12	9345129	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	200240	9345129	124506766	77	3607											
GUCY2C	2984	broad.mit.edu	37	chr12	14827688	14827688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggcaagagcaaagtctcGttttgtctaaataaaaaagg	17	10	9	5	1	2	1	0	0	2	1	3	1	2	1	0	2	1	3	0	2	8	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:14827688G>A	ENST00000261170.3	-	8	1091	c.955C>T	c.(955-957)Cga>Tga	p.R319*	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	319					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GCAAAGTCTCGTTTTGTCTAA	0.363																																						uc001rcd.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(955-957)Cga>Tga		Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.							60	64	63					12																	14827688		2202	4300	6502	SO:0001587	stop_gained	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14827688G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.955C>T	12.37:g.14827688G>A	ENSP00000261170:p.Arg319*					GUCY2C_uc009zhz.2_Nonsense_Mutation_p.R319*	p.R319*	NM_004963	NP_004954	P25092	GUC2C_HUMAN			7	1092	-			319					B2RMY6	Nonsense_Mutation	SNP	ENST00000261170.3	37	c.955C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074066	0.76415	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.68	1.97	0.26223	.	0.413363	0.30538	N	0.009408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.7086	0.00920	0.1957:0.1269:0.2283:0.4492	.	.	.	.	X	319	.	ENSP00000261170:R319X	R	-	1	2	GUCY2C	14718955	0.039000	0.19947	0.001000	0.08648	0.005000	0.04900	0.517000	0.22832	0.411000	0.25702	-0.262000	0.10625	CGA		0.363	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			A	14827688	G	A	14827688	4	1	56	1	0	0	0	0	0	1	0	0	6896	1153	40	1	2346	1	GUCY2C	12	14827688	Nonsense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	5482559	14827688	119024207	78	3608											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868660	57868660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctctgagaaaatgacctCttttatccacagcagcaatg	12	11	8	10	0	2	2	0	2	2	1	4	3	3	2	2	1	2	2	2	1	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:57868660C>T	ENST00000356411.2	-	13	1844	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R550K|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R629K|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R640K|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R550K|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R366K			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	569	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R569I(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAAATGACCTCTTTTATCCAC	0.527																																						uc001sod.3																			1	Substitution - Missense(1)	p.R569I(1)|p.R639R(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1918-1920)aGa>aAa		Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.							49	48	48					12																	57868660		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868660C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1706G>A	12.37:g.57868660C>T	ENSP00000348782:p.Arg569Lys					ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.3_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	p.R640K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		15	2112	-			569			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1919G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.132301|3.132301	0.56828|0.56828	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14;2.14;2.14	5.2|5.2	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.164275	.|0.52532	.|N	.|0.000075	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.25286|0.25286	0.73|0.73	0.32090|0.32090	N|N	0.591985|0.591985	.|B;B;B;B;B	.|0.32604	.|0.134;0.219;0.01;0.377;0.019	.|B;B;B;B;B	.|0.42771	.|0.047;0.191;0.016;0.397;0.074	T|T	0.21586|0.21586	-1.0241|-1.0241	5|10	.|0.38643	.|T	.|0.18	.|.	10.8783|10.8783	0.46923|0.46923	0.0:0.9078:0.0:0.0922|0.0:0.9078:0.0:0.0922	.|.	.|629;569;550;550;366	.|Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.|.;RHG09_HUMAN;.;.;.	K|K	20|550;569;220;550;640;599;366;57	.|ENSP00000377380:R550K;ENSP00000348782:R569K;ENSP00000394307:R550K;ENSP00000377386:R640K;ENSP00000397950:R366K;ENSP00000448423:R57K	.|ENSP00000344852:R599K	E|R	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56154927|56154927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.926000|1.926000	0.40084|0.40084	1.496000|1.496000	0.48567|0.48567	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.527	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		T	57868660	C	T	57868660	3	4	56	1	0	0	0	0	1	0	0	0	889	913	32	3	570	3	ARHGAP9	12	57868660	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	43040972	57868660	75983235	79	3609											
EBPL	84650	broad.mit.edu	37	chr13	50243922	50243922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattacttacataaagaagCaatcaagccatcggaatttg	17	11	6	7	1	1	1	1	0	0	1	2	2	1	2	1	1	4	1	1	1	9	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr13:50243922C>A	ENST00000242827.6	-	2	282	c.232G>T	c.(232-234)Gct>Tct	p.A78S	EBPL_ENST00000378284.2_Missense_Mutation_p.A78S|EBPL_ENST00000378268.1_Missense_Mutation_p.A78S|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_Missense_Mutation_p.A78S|EBPL_ENST00000378282.5_Missense_Mutation_p.A78S|EBPL_ENST00000378270.5_Intron	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	78					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CATAAAGAAGCAATCAAGCCA	0.378											OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(39;857 1083 36109 42364 51411)	uc001vdg.3																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(232-234)Gct>Tct		Homo sapiens emopamil binding protein-like (EBPL), mRNA.							95	87	90					13																	50243922		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50243922C>A	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.232G>T	13.37:g.50243922C>A	ENSP00000242827:p.Ala78Ser		OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.A78S	p.A78S	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	1	295	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	78					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.232G>T	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884359	0.72410	.	.	ENSG00000123179	ENST00000378272;ENST00000378284;ENST00000242827;ENST00000378282;ENST00000378268	D;D;T	0.98075	-4.7;-4.7;0.34	5.56	4.72	0.59763	.	0.054427	0.64402	D	0.000001	D	0.97228	0.9094	L	0.60455	1.87	0.80722	D	1	D;D	0.57899	0.98;0.981	P;P	0.54856	0.762;0.642	D	0.95919	0.8929	10	0.32370	T	0.25	-3.4379	11.6569	0.51324	0.0:0.9167:0.0:0.0833	.	78;78	Q9BY08-2;Q9BY08	.;EBPL_HUMAN	S	78	ENSP00000242827:A78S;ENSP00000367531:A78S;ENSP00000367516:A78S	ENSP00000242827:A78S	A	-	1	0	EBPL	49141923	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	5.619000	0.67729	1.347000	0.45714	0.655000	0.94253	GCT		0.378	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		A	50243922	C	A	50243922	3	1	56	1	0	0	0	0	1	0	0	0	4887	710	25	5	400	5	EBPL	13	50243922	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		50243922	64925956	80	3610											
TINF2	26277	broad.mit.edu	37	chr14	24709082	24709082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggggtaggtattcaCagagagtgggtatcaaggtg	12	8	17	4	0	2	2	2	0	0	2	2	3	2	2	0	5	0	3	0	5	5	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:24709082C>T	ENST00000267415.7	-	9	1618	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.C391Y	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	426					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGTATTCACAGAGAGTGGG	0.463									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													uc001woa.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(1276-1278)tGt>tAt		Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.							108	109	109					14																	24709082		1891	4121	6012	SO:0001583	missense	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709082C>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1277G>A	14.37:g.24709082C>T	ENSP00000267415:p.Cys426Tyr					TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Missense_Mutation_p.C391Y|TINF2_uc001woc.4_3'UTR	p.C426Y	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	8	1619	-			426					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.1277G>A	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071773	0.08436	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.86769	-2.16;-2.17	5.76	-0.716	0.11212	.	0.412421	0.20928	N	0.083148	T	0.69824	0.3154	N	0.20401	0.57	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.51942	-0.8641	10	0.08837	T	0.75	-9.7461	5.521	0.16933	0.0:0.4522:0.1333:0.4146	.	391;426	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	Y	426;391	ENSP00000267415:C426Y;ENSP00000442154:C391Y	ENSP00000267415:C426Y	C	-	2	0	TINF2	23778922	0.850000	0.29656	0.991000	0.47740	0.283000	0.27025	-0.531000	0.06171	-0.173000	0.10761	-0.244000	0.11960	TGT		0.463	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24709082	C	T	24709082	3	4	56	1	0	0	0	0	1	0	0	0	15920	478	17	3	82	3	TINF2	14	24709082	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		24709082	82640458	81	3611											
ZBTB25	7597	broad.mit.edu	37	chr14	64953897	64953897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttatgaccacagatggtaCagctcatttttcttttcctt	9	18	5	9	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	2	8			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:64953897C>T	ENST00000608382.1	-	3	1243	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y	ZBTB25_ENST00000394715.1_Missense_Mutation_p.C351Y|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Missense_Mutation_p.C64Y	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	351					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ACAGATGGTACAGCTCATTTT	0.368																																						uc001xhf.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10						c.(1051-1053)tGt>tAt		Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.							131	135	133					14																	64953897		2203	4300	6503	SO:0001583	missense	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64953897C>T	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.1052G>A	14.37:g.64953897C>T	ENSP00000476746:p.Cys351Tyr					ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Missense_Mutation_p.C351Y	p.C351Y	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	2	1235	-			351					B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	c.1052G>A	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084906	0.76642	.	.	ENSG00000089775	ENST00000555424;ENST00000261683;ENST00000394715	D;D;D	0.99974	-10.2;-10.2;-10.2	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95710	0.8757	10	0.87932	D	0	-13.9333	20.4388	0.99107	0.0:1.0:0.0:0.0	.	351	P24278	ZBT25_HUMAN	Y	64;351;351	ENSP00000451046:C64Y;ENSP00000261683:C351Y;ENSP00000378204:C351Y	ENSP00000261683:C351Y	C	-	2	0	ZBTB25	64023650	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.836000	0.97738	0.655000	0.94253	TGT		0.368	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		T	64953897	C	T	64953897	3	4	56	1	0	0	0	0	1	0	0	0	17529	478	17	3	259	3	ZBTB25	14	64953897	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	40244815	64953897	42395643	82	3612											
LTBP2	4053	broad.mit.edu	37	chr14	75017917	75017917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcaggcagccagggCgggggtctggtctccacgct	4	6	19	12	2	2	0	0	0	2	0	3	0	2	0	2	7	1	4	2	7	0	0	rs371191837		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:75017917C>T	ENST00000261978.4	-	7	1922	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	LTBP2_ENST00000556690.1_Silent_p.P512P|LTBP2_ENST00000557425.1_5'UTR|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	512					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P512P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701																																						uc001xqa.3																			1	Substitution - coding silent(1)	p.P512P(2)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1534-1536)ccG>ccA		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.		C		0,4404		0,0,2202	22	25	24		1536	-6.3	0	14		24	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LTBP2	NM_000428.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		512/1822	75017917	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017917C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1536G>A	14.37:g.75017917C>T							p.P512P	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	6	1923	-			512					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.1536G>A	CCDS9831.1																																																																																				0.701	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	75017917	C	T	75017917	2	4	56	1	0	0	0	0	0	0	0	1	9074	755	27	1		1	LTBP2	14	75017917	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	10064020	75017917	32331623	83	3613											
SERPINA3	12	broad.mit.edu	37	chr14	95085658	95085658	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataccttacttccgggacgAggagctgtcctgcaccgtgg	7	10	12	12	3	0	0	0	0	0	0	2	3	2	2	4	3	4	2	4	3	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:95085658A>T	ENST00000467132.1	+	3	1918	c.770A>T	c.(769-771)gAg>gTg	p.E257V	SERPINA3_ENST00000393080.4_Missense_Mutation_p.E257V|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.E39V|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E257V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	257					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCCGGGACGAGGAGCTGTCC	0.502																																						uc001ydp.3																			0		p.E257K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(769-771)gAg>gTg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.							126	94	105					14																	95085658		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085658A>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.770A>T	14.37:g.95085658A>T	ENSP00000450540:p.Glu257Val					SERPINA3_uc001ydo.4_Missense_Mutation_p.E282V|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E257V|SERPINA3_uc001yds.3_Missense_Mutation_p.E257V	p.E257V	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	929	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	257					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.770A>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	8.177	0.793021	0.16327	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.66	2.19	0.27852	Serpin domain (3);	0.390886	0.24012	N	0.042367	D	0.93226	0.7842	M	0.88181	2.935	0.09310	N	1	B;P	0.45715	0.321;0.865	B;P	0.55871	0.195;0.786	D	0.86975	0.2100	10	0.66056	D	0.02	.	10.7302	0.46091	0.6942:0.3058:0.0:0.0	.	257;282	P01011;G3V5I3	AACT_HUMAN;.	V	282;257;257;257;257;39	ENSP00000452367:E282V;ENSP00000376793:E257V;ENSP00000376795:E257V;ENSP00000450540:E257V;ENSP00000451119:E39V	ENSP00000376793:E257V	E	+	2	0	SERPINA3	94155411	0.000000	0.05858	0.007000	0.13788	0.218000	0.24690	0.075000	0.14686	0.266000	0.21894	0.454000	0.30748	GAG		0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		T	95085658	A	T	95085658	3	4	56	1	0	0	0	0	1	0	0	0	14090	304	11	5	776	5	SERPINA3	14	95085658	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	20067741	95085658	12263882	84	3614											
AHNAK2	113146	broad.mit.edu	37	chr14	105420083	105420083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccctgcccttgtcctGttcctcagtgatccttgtcc	2	16	7	16	0	2	1	1	1	1	0	7	1	7	1	6	0	1	1	6	0	0	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:105420083G>C	ENST00000333244.5	-	7	1824	c.1705C>G	c.(1705-1707)Cag>Gag	p.Q569E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	569						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGTCCTGTTCCTCAGTG	0.542																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1705-1707)Cag>Gag		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							330	345	340					14																	105420083		2142	4252	6394	SO:0001583	missense	113146					nucleus		g.chr14:105420083G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1705C>G	14.37:g.105420083G>C	ENSP00000353114:p.Gln569Glu					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	p.Q569E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	1825	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	569					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1705C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	0.153	-1.089071	0.01873	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	4.76	-0.921	0.10472	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.47736	-0.9094	9	0.02654	T	1	.	9.2024	0.37268	0.0:0.2906:0.5418:0.1677	.	569	Q8IVF2	AHNK2_HUMAN	E	569	ENSP00000353114:Q569E	ENSP00000353114:Q569E	Q	-	1	0	AHNAK2	104491128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.544000	0.02192	-0.437000	0.07243	-0.397000	0.06425	CAG		0.542	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105420083	G	C	105420083	3	2	56	1	0	0	0	0	1	0	0	0	415	1386	48	5	15686	5	AHNAK2	14	105420083	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	10334425	105420083	1929457	85	3615											
ATP8B4	79895	broad.mit.edu	37	chr15	50226374	50226374	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgagaaatccacaggctcTttttcctgtaggagaacaac	13	10	8	10	0	1	2	0	1	1	2	3	4	3	2	2	2	2	2	2	2	4	3	rs114705901		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:50226374T>G	ENST00000284509.6	-	15	1434	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K431N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	431						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACAGGCTCTTTTTCCTGTA	0.348																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1291-1293)aaA>aaC		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							76	79	78					15																	50226374		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50226374T>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1293A>C	15.37:g.50226374T>G	ENSP00000284509:p.Lys431Asn					ATP8B4_uc010ber.3_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.2_Non-coding_Transcript	p.K431N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	14	1435	-		all_lung(180;0.00183)	431					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1293A>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	0.066	-1.213730	0.01555	.	.	ENSG00000104043	ENST00000284509	T	0.60040	0.22	5.61	-0.944	0.10392	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.213986	0.45867	N	0.000330	T	0.34629	0.0904	L	0.31926	0.97	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.07539	-1.0767	10	0.17832	T	0.49	.	2.5857	0.04829	0.1121:0.2937:0.1149:0.4793	.	431	Q8TF62	AT8B4_HUMAN	N	431	ENSP00000284509:K431N	ENSP00000284509:K431N	K	-	3	2	ATP8B4	48013666	0.114000	0.22134	0.005000	0.12908	0.096000	0.18686	0.049000	0.14099	-0.799000	0.04439	-1.431000	0.01090	AAA		0.348	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		G	50226374	T	G	50226374	3	3	56	1	0	0	0	0	1	0	0	0	1197	1606	56	5	2341	5	ATP8B4	15	50226374	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		50226374	52305018	86	3616											
OR4F6	390648	broad.mit.edu	37	chr15	102346502	102346502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgcatagagacctacAcattgggattcatggttact	10	13	10	8	0	1	1	1	0	0	1	1	3	1	2	1	3	3	3	1	3	3	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:102346502A>G	ENST00000328882.4	+	1	601	c.580A>G	c.(580-582)Aca>Gca	p.T194A		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGAGACCTACACATTGGGATT	0.368																																						uc010utr.2																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(580-582)Aca>Gca		Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.							168	165	166					15																	102346502		2203	4299	6502	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346502A>G	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.580A>G	15.37:g.102346502A>G	ENSP00000327525:p.Thr194Ala						p.T194A	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		0	580	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		194					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.580A>G	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	0.899	-0.722954	0.03158	.	.	ENSG00000184140	ENST00000328882	T	0.00091	8.74	4.78	0.59	0.17458	GPCR, rhodopsin-like superfamily (1);	1.895800	0.02673	N	0.108857	T	0.00109	0.0003	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.45512	-0.9256	10	0.06365	T	0.9	.	1.5149	0.02503	0.5528:0.1663:0.1208:0.1602	.	194	Q8NGB9	OR4F6_HUMAN	A	194	ENSP00000327525:T194A	ENSP00000327525:T194A	T	+	1	0	OR4F6	100164025	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.042000	0.13949	-0.000000	0.14550	-0.468000	0.05107	ACA		0.368	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			G	102346502	A	G	102346502	3	3	56	1	0	0	0	0	1	0	0	0	11066	159	6	4	582	4	OR4F6	15	102346502	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	52120128	102346502	184890	87	3617											
CYLD	1540	broad.mit.edu	37	chr16	50783900	50783900	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagataaatgaaaagttcacAgagttacttttggcaattac	16	12	8	5	0	1	3	1	1	0	2	1	4	1	3	0	1	2	3	0	1	7	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr16:50783900A>G	ENST00000427738.3	+	2	496	c.291A>G	c.(289-291)acA>acG	p.T97T	CYLD_ENST00000540145.1_Silent_p.T97T|CYLD_ENST00000566206.1_Silent_p.T97T|CYLD_ENST00000569418.1_Silent_p.T97T|CYLD_ENST00000568704.2_Silent_p.T97T|CYLD_ENST00000398568.2_Silent_p.T97T|CYLD_ENST00000564326.1_Silent_p.T97T|CYLD_ENST00000311559.9_Silent_p.T97T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	97					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAGTTCACAGAGTTACTTT	0.378			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc021tib.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(289-291)acA>acG		Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.							86	84	84					16																	50783900		1826	4075	5901	SO:0001819	synonymous_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50783900A>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.291A>G	16.37:g.50783900A>G						CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.3_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egp.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	p.T97T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			0	414	+		all_cancers(37;0.0156)	97					O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.291A>G	CCDS45482.1																																																																																				0.378	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			G	50783900	A	G	50783900	2	3	56	1	0	0	0	0	0	0	0	1	4143	175	7	4		4	CYLD	16	50783900	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08		50783900	39570853	88	3618											
ACCN1	40	broad.mit.edu	37	chr17	32483431	32483431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccacagcacacgccGgatggtcagcggcccataca	10	4	10	17	3	1	0	1	0	0	0	1	1	1	1	3	3	4	1	3	3	1	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:32483431G>A	ENST00000359872.6	-	1	882	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	41					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.R41W(1)								Amiloride(DB00594)	AGCACACGCCGGATGGTCAGC	0.602																																						uc002hhu.3																			1	Substitution - Missense(1)	p.R41W(1)	lung(1)								c.(121-123)Cgg>Tgg		Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	Amiloride(DB00594)						47	53	51					17																	32483431		2203	4298	6501	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483431G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.121C>T	17.37:g.32483431G>A	ENSP00000352934:p.Arg41Trp						p.R41W	NM_001094	NP_001085	Q16515	ACCN1_HUMAN			0	395	-			41					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.121C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279393	0.80692	.	.	ENSG00000108684	ENST00000359872	T	0.66815	-0.23	4.96	4.96	0.65561	.	.	.	.	.	T	0.81138	0.4760	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.83225	-0.0066	9	0.72032	D	0.01	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	41	Q16515	ACCN1_HUMAN	W	41	ENSP00000352934:R41W	ENSP00000352934:R41W	R	-	1	2	ACCN1	29507544	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.329000	0.59260	2.559000	0.86315	0.655000	0.94253	CGG		0.602	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		A	32483431	G	A	32483431	3	1	56	1	0	0	0	0	1	0	0	0	128	1115	39	2	2169	2	ACCN1	17	32483431	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		32483431	48711779	89	3619											
CDK12	51755	broad.mit.edu	37	chr17	37687203	37687203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagaatccttggtccagacCctggtgaagaacaggacctt	12	8	10	11	0	0	4	0	1	0	3	2	5	2	5	4	3	1	0	4	3	3	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:37687203C>T	ENST00000447079.4	+	14	4140	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	CDK12_ENST00000430627.2_Silent_p.T1360T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1369					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGTCCAGACCCTGGTGAAGA	0.552			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.3				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4105-4107)acC>acT		Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.							70	68	69					17																	37687203		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687203C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4107C>T	17.37:g.37687203C>T		TCGA Ovarian(9;0.13)				CDK12_uc002hrw.4_Silent_p.T1360T	p.T1369T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			13	4693	+			1369					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.4107C>T	CCDS11337.1																																																																																				0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37687203	C	T	37687203	2	4	56	1	0	0	0	0	0	0	0	1	3128	610	22	3		3	CDK12	17	37687203	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	5203772	37687203	43508007	90	3620											
KRT222	125113	broad.mit.edu	37	chr17	38812778	38812778	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccttcatcagtggctgctAaatgaagatcaaatcgaaga	15	9	8	9	1	3	3	3	1	0	2	4	4	3	3	1	1	1	2	1	1	5	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:38812778A>C	ENST00000476049.1	-	6	805	c.764T>G	c.(763-765)tTa>tGa	p.L255*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.L255*			Q8N1A0	KT222_HUMAN	keratin 222	255						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGTGGCTGCTAAATGAAGATC	0.378																																						uc002hvc.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(763-765)tTa>tGa		Homo sapiens keratin 222 (KRT222), mRNA.							108	101	103					17																	38812778		2203	4300	6503	SO:0001587	stop_gained	125113					intermediate filament	structural molecule activity	g.chr17:38812778A>C	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"-"	28695	protein-coding gene	gene with protein product			"keratin 222 pseudogene"	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.764T>G	17.37:g.38812778A>C	ENSP00000463483:p.Leu255*					KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	p.L255*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			5	829	-			255					Q7Z368	Nonsense_Mutation	SNP	ENST00000476049.1	37	c.764T>G	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741996	0.89573	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	.	.	.	5.93	4.85	0.62838	.	0.730463	0.12085	U	0.500960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8811	12.0219	0.53348	0.9326:0.0:0.0674:0.0	.	.	.	.	X	215;255	.	ENSP00000377613:L215X	L	-	2	0	KRT222	36066304	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	8.671000	0.91174	1.071000	0.40834	0.482000	0.46254	TTA		0.378	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		C	38812778	A	C	38812778	4	2	56	1	0	0	0	0	0	1	0	0	8459	372	13	5	127	5	KRT222	17	38812778	Nonsense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	1125575	38812778	42382432	91	3621											
BRCA1	672	broad.mit.edu	37	chr17	41244603	41244603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacttgatgggaaaaagtGgtggtatacgatatgggttt	12	13	14	2	1	0	2	0	2	0	0	0	4	0	3	0	4	1	2	0	4	5	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:41244603G>A	ENST00000357654.3	-	10	3063	c.2945C>T	c.(2944-2946)cCa>cTa	p.P982L	BRCA1_ENST00000346315.3_Missense_Mutation_p.P982L|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.P686L|BRCA1_ENST00000354071.3_Missense_Mutation_p.P982L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P935L|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P982L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	982					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAAAAAGTGGTGGTATACG	0.368			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(2944-2946)cCa>cTa	Homologous recombination	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.							90	92	91					17																	41244603		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244603G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2945C>T	17.37:g.41244603G>A	ENSP00000350283:p.Pro982Leu	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P911L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P935L|BRCA1_uc002ict.3_Missense_Mutation_p.P982L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	p.P982L	NM_007294	NP_009228	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3177	-		Breast(137;0.000717)	982					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2945C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115474	0.08831	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	4.89	3.93	0.45458	.	0.712293	0.12154	N	0.494633	T	0.66046	0.2750	L	0.39397	1.21	0.09310	N	1	B;B;B;B;B;B	0.18461	0.028;0.028;0.009;0.01;0.017;0.028	B;B;B;B;B;B	0.24394	0.006;0.006;0.009;0.016;0.024;0.053	T	0.58476	-0.7630	10	0.54805	T	0.06	.	8.4493	0.32860	0.1921:0.0:0.8079:0.0	.	982;941;982;982;982;982	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	L	982;982;982;982;686;982;935	ENSP00000350283:P982L;ENSP00000326002:P982L;ENSP00000246907:P982L;ENSP00000310938:P686L;ENSP00000418960:P982L;ENSP00000418775:P935L	ENSP00000310938:P686L	P	-	2	0	BRCA1	38498129	0.066000	0.20996	0.006000	0.13384	0.014000	0.08584	0.831000	0.27476	1.290000	0.44636	0.650000	0.86243	CCA		0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41244603	G	A	41244603	3	1	56	1	0	0	0	0	1	0	0	0	1498	1348	47	3	2772	3	BRCA1	17	41244603	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	2431825	41244603	39950607	92	3622											
DCAF7	10238	broad.mit.edu	37	chr17	61657190	61657190	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggttgtttgcaggtacCtcaagcattgatacgacatg	10	12	10	9	1	1	1	1	1	0	0	1	2	1	1	1	2	4	5	1	2	3	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:61657190C>A	ENST00000310827.4	+	4	631	c.414C>A	c.(412-414)acC>acA	p.T138T	DCAF7_ENST00000431926.1_Silent_p.T138T|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	138					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TTGCAGGTACCTCAAGCATTG	0.562																																						uc002jbc.3																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						c.(412-414)acC>acA		Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.							95	98	97					17																	61657190		2065	4196	6261	SO:0001819	synonymous_variant	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61657190C>A	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.414C>A	17.37:g.61657190C>A						DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	p.T138T	NM_005828	NP_005819	P61962	DCAF7_HUMAN			3	631	+			138					B4E039|D3DU14|O15491|Q9DAE4	Silent	SNP	ENST00000310827.4	37	c.414C>A																																																																																					0.562	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		A	61657190	C	A	61657190	2	1	56	1	0	0	0	0	0	0	0	1	4275	668	24	5		5	DCAF7	17	61657190	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	20412587	61657190	19538020	93	3623											
KPNA2	3838	broad.mit.edu	37	chr17	66033587	66033587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgatgctacttctccGctgcaggaaaaccgcaacaa	12	8	8	13	2	1	2	0	2	1	0	2	3	1	3	3	1	5	4	3	1	5	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:66033587G>A	ENST00000537025.2	+	3	809	c.189G>A	c.(187-189)ccG>ccA	p.P63P	KPNA2_ENST00000330459.3_Silent_p.P63P			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	63					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACTTCTCCGCTGCAGGAAA	0.398																																						uc002jgk.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.(187-189)ccG>ccA		Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.							89	82	85					17																	66033587		2203	4296	6499	SO:0001819	synonymous_variant	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66033587G>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.189G>A	17.37:g.66033587G>A						KPNA2_uc002jgl.3_Silent_p.P63P	p.P63P	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	321	+	all_cancers(12;1.18e-09)		63					B9EJD6|Q53YE3|Q9BRU5	Silent	SNP	ENST00000537025.2	37	c.189G>A	CCDS32713.1																																																																																				0.398	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		A	66033587	G	A	66033587	2	1	56	1	0	0	0	0	0	0	0	1	8430	1074	38	1		1	KPNA2	17	66033587	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	4376397	66033587	15161623	94	3624											
MGAT5B	146664	broad.mit.edu	37	chr17	74900424	74900424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcatctacctcagtgagGtcgagtggttctgccccccg	5	11	10	15	2	4	1	2	1	2	0	6	2	5	1	5	2	2	1	5	2	1	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:74900424G>A	ENST00000569840.2	+	6	1184	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.V215I|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V204I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	204					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCAGTGAGGTCGAGTGGTT	0.662																																						uc002jti.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(643-645)Gtc>Atc		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.							50	37	42					17																	74900424		2203	4298	6501	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74900424G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.610G>A	17.37:g.74900424G>A	ENSP00000456037:p.Val204Ile					MGAT5B_uc002jth.3_Missense_Mutation_p.V204I	p.V215I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			4	746	+			204					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.643G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296992	0.60086	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.50548	0.74;0.74	4.64	4.64	0.57946	.	0.068172	0.64402	D	0.000019	T	0.56381	0.1981	L	0.33189	0.99	0.53005	D	0.999968	D;D	0.67145	0.996;0.99	D;D	0.77557	0.99;0.986	T	0.53136	-0.8481	10	0.34782	T	0.22	-34.1838	14.815	0.70028	0.0:0.0:1.0:0.0	.	215;204	Q3V5L5-2;Q3V5L5-5	.;.	I	204;204;215	ENSP00000301618:V204I;ENSP00000391227:V215I	ENSP00000301618:V204I	V	+	1	0	MGAT5B	72412019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.342000	0.72982	2.381000	0.81170	0.655000	0.94253	GTC		0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74900424	G	A	74900424	3	1	56	1	0	0	0	0	1	0	0	0	9549	1261	44	3	733	3	MGAT5B	17	74900424	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	8866837	74900424	6294786	95	3625											
ENGASE	64772	broad.mit.edu	37	chr17	77081816	77081816	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcttggagagatccaGgtgatgcttcccagaggggc	7	9	16	9	1	0	3	0	1	0	2	3	5	2	4	2	5	1	2	2	5	0	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:77081816G>A	ENST00000579016.1	+	13	1815	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	605						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGAGATCCAGGTGATGCTTC	0.677																																						uc002jwv.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.e13+1		Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.							28	31	30					17																	77081816		1974	4152	6126	SO:0001630	splice_region_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77081816G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1815+1G>A	17.37:g.77081816G>A						ENGASE_uc002jww.3_Splice_Site_p.Q310_splice	p.Q605_splice	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			13	1823	+			605					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.1815_splice	CCDS42394.1																																																																																				0.677	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Silent	A	77081816	G	A	77081816	5	1	56	1	0	0	0	0	0	0	1	0	5118	1014	35	3	1865	3	ENGASE	17	77081816	Splice_Site	SNP	G	TCGA-06-0649-01B-01W-0348-08	2181392	77081816	4113394	96	3626											
SMCHD1	23347	broad.mit.edu	37	chr18	2705783	2705783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagaagtatatgctacagGaggagaggttcaaattgcaa	15	9	13	4	0	1	2	1	0	0	2	1	5	1	3	0	4	3	4	0	4	6	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:2705783G>T	ENST00000320876.6	+	14	2272	c.1934G>T	c.(1933-1935)gGa>gTa	p.G645V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.G645V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	645					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATGCTACAGGAGGAGAGGTT	0.333																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1933-1935)gGa>gTa		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							83	79	80					18																	2705783		1863	4086	5949	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2705783G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1934G>T	18.37:g.2705783G>T	ENSP00000326603:p.Gly645Val					SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	p.G645V	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			13	2123	+			645					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1934G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884947	0.51908	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.36340	1.26;1.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59616	-0.7421	10	0.87932	D	0	-17.0614	20.1951	0.98241	0.0:0.0:1.0:0.0	.	645	A6NHR9	SMHD1_HUMAN	V	645	ENSP00000326603:G645V;ENSP00000261598:G645V	ENSP00000261598:G645V	G	+	2	0	SMCHD1	2695783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.827000	0.75303	2.780000	0.95670	0.585000	0.79938	GGA		0.333	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2705783	G	T	2705783	3	4	56	1	0	0	0	0	1	0	0	0	14788	1174	41	5	1988	5	SMCHD1	18	2705783	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2705783	75371465	97	3627											
DSC1	1823	broad.mit.edu	37	chr18	28710546	28710546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctagaaactccagtccCtcttcttcctgccgatcgct	7	13	6	15	2	3	2	0	1	3	1	7	3	6	2	4	0	2	1	4	0	2	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:28710546C>T	ENST00000257198.5	-	16	2877	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	872					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423																																						uc002kwn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2614-2616)gaG>gaA		Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.							159	157	158					18																	28710546		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710546C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2616G>A	18.37:g.28710546C>T						DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	p.E872E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		15	2878	-			872					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2616G>A	CCDS11894.1																																																																																				0.423	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		T	28710546	C	T	28710546	2	4	56	1	0	0	0	0	0	0	0	1	4765	680	24	3		3	DSC1	18	28710546	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	26004763	28710546	49366702	98	3628											
KIAA1012	22878	broad.mit.edu	37	chr18	29437807	29437807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagaacagcagtattacCaccgaaagtaaagaactctg	16	9	8	8	1	1	2	0	0	1	2	1	3	1	2	2	0	4	4	2	0	8	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:29437807C>T	ENST00000283351.4	-	20	3219	c.2884G>A	c.(2884-2886)Ggt>Agt	p.G962S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G908S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	962					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGTATTACCACCGAAAGTA	0.408																																						uc002kxc.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2884-2886)Ggt>Agt		Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.							178	175	176					18																	29437807		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29437807C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2884G>A	18.37:g.29437807C>T	ENSP00000283351:p.Gly962Ser					TRAPPC8_uc002kxb.4_Missense_Mutation_p.G908S|TRAPPC8_uc002kxd.4_Intron	p.G962S	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			19	3248	-			962					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2884G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137901	0.37728	.	.	ENSG00000153339	ENST00000283351	T	0.06449	3.3	5.21	5.21	0.72293	.	0.143655	0.64402	D	0.000007	T	0.02533	0.0077	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49707	-0.8911	10	0.09590	T	0.72	-16.8851	12.4766	0.55819	0.0:0.9227:0.0:0.0773	.	962	Q9Y2L5	TPPC8_HUMAN	S	962	ENSP00000283351:G962S	ENSP00000283351:G962S	G	-	1	0	TRAPPC8	27691805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.173000	0.58249	2.582000	0.87167	0.563000	0.77884	GGT		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		T	29437807	C	T	29437807	3	4	56	1	0	0	0	0	1	0	0	0	8204	594	21	3	1463	3	KIAA1012	18	29437807	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	727261	29437807	48639441	99	3629											
DOK6	220164	broad.mit.edu	37	chr18	67345078	67345078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgcaggagtgcagcGggaacagaatggtaggtgtg	9	7	18	7	2	1	1	0	0	1	1	1	3	1	3	1	5	3	3	1	5	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:67345078G>A	ENST00000382713.5	+	4	588	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	133	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGTGCAGCGGGAACAGAAT	0.517																																						uc002lkl.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(397-399)cGg>cAg		Homo sapiens docking protein 6 (DOK6), mRNA.							71	64	67					18																	67345078		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67345078G>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.398G>A	18.37:g.67345078G>A	ENSP00000372160:p.Arg133Gln						p.R133Q	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			3	595	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	133			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.398G>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477658	0.63849	.	.	ENSG00000206052	ENST00000382713	D	0.82893	-1.66	5.34	5.34	0.76211	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	L	0.54323	1.7	0.54753	D	0.999981	D	0.65815	0.995	P	0.54346	0.749	T	0.80681	-0.1274	10	0.18710	T	0.47	-16.3407	16.9217	0.86166	0.0:0.0:1.0:0.0	.	133	Q6PKX4	DOK6_HUMAN	Q	133	ENSP00000372160:R133Q	ENSP00000372160:R133Q	R	+	2	0	DOK6	65496058	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	CGG		0.517	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		A	67345078	G	A	67345078	3	1	56	1	0	0	0	0	1	0	0	0	4701	1116	39	2	412	2	DOK6	18	67345078	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	37907271	67345078	10732170	100	3630											
C3	718	broad.mit.edu	37	chr19	6677935	6677935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgctctcggtgaaggcGccgaggtcctggcattgttt	6	11	13	11	3	1	1	0	1	1	0	3	2	2	1	3	4	1	3	3	4	1	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:6677935G>A	ENST00000245907.6	-	41	5042	c.4950C>T	c.(4948-4950)ggC>ggT	p.G1650G	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1650	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGGTGAAGGCGCCGAGGTCCT	0.562																																						uc002mfm.3																			0		p.G1650C(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4948-4950)ggC>ggT		Homo sapiens complement component 3 (C3), mRNA.							123	97	106					19																	6677935		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677935G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4950C>T	19.37:g.6677935G>A							p.G1650G	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	40	5012	-			1650			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4950C>T	CCDS32883.1																																																																																				0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6677935	G	A	6677935	2	1	56	1	0	0	0	0	0	0	0	1	2204	1074	38	1		1	C3	19	6677935	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08		6677935	52451048	101	3631											
ZNF358	140467	broad.mit.edu	37	chr19	7584719	7584719	+	Frame_Shift_Del	DEL	C	C	-																															ggtgccaccctggctcagcaCcgtggcatccacactggggc																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:7584719delC	ENST00000597229.1	+	2	761	c.591delC	c.(589-591)cacfs	p.H197fs	ZNF358_ENST00000394341.2_Frame_Shift_Del_p.H197fs|MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	197					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TGGCTCAGCACCGTGGCATCC	0.711																																						uc002mgn.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(589-591)cacfs		Homo sapiens zinc finger protein 358 (ZNF358), mRNA.							2	2	2					19																	7584719		1692	3434	5126	SO:0001589	frameshift_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584719delC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.591delC	19.37:g.7584719delC	ENSP00000472305:p.His197fs					ZNF358_uc021unu.1_Frame_Shift_Del_p.H197fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	p.H197fs	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			1	761	+			197					Q9BTM7	Frame_Shift_Del	DEL	ENST00000597229.1	37	c.591delC	CCDS32890.2																																																																																				0.711	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			-	7584719	C	-	7584719	7	5	56	1	0	1	0	1	0	0	0	0	17864	506	18	0	593	0	ZNF358	19	7584719	Frame_Shift_Del	DEL	C	TCGA-06-0649-01B-01W-0348-08	906784	7584719	51544264	102	3632											
MRI1	81576	broad.mit.edu	37	chr19	13876915	13876915	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtaacactggtgctctGgccaccgctggctatggtac	7	10	11	13	1	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	3	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:13876915G>C	ENST00000586600.1	+	0	1922				MRI1_ENST00000040663.6_Silent_p.L173L|MRI1_ENST00000319545.8_Intron			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTGGTGCTCTGGCCACCGCTG	0.602																																						uc002mxe.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(517-519)ctG>ctC		Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.							30	33	32					19																	13876915		2203	4299	6502	SO:0001628	intergenic_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13876915G>C	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13876915G>C						MRI1_uc002mxf.3_Intron	p.L173L	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN			2	585	+			173					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.519G>C	CCDS12296.1																																																																																				0.602	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		C	13876915	G	C	13876915	1	2	56	0	1	0	0	0	0	0	0	0	9770	1335	47	5		5	MRI1	19	13876915	IGR	SNP	G	TCGA-06-0649-01B-01W-0348-08	6292196	13876915	45252068	103	3633											
ZNF461	92283	broad.mit.edu	37	chr19	37129609	37129609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctgactggcttctcGccagtatgaagagtctgatg	10	10	12	9	1	2	4	0	3	2	1	3	5	2	5	2	2	1	2	2	2	3	2	rs188996971		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:37129609G>A	ENST00000588268.1	-	6	1865	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.G523G	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGCTTCTCGCCAGTATGAA	0.388													A|||	1	0.000199681	0	0	5008	,	,		17083	0.001		0	False		,,,				2504	0					uc002oem.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1636-1638)ggC>ggT		Homo sapiens zinc finger protein 461 (ZNF461), mRNA.							52	54	53					19																	37129609		1972	4178	6150	SO:0001819	synonymous_variant	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129609G>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1638C>T	19.37:g.37129609G>A						ZNF461_uc002oen.3_Silent_p.G515G|ZNF461_uc010xtj.2_Silent_p.G523G	p.G546G	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1866	-	Esophageal squamous(110;0.198)		546					A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	c.1638C>T	CCDS54257.1																																																																																				0.388	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		A	37129609	G	A	37129609	2	1	56	1	0	0	0	0	0	0	0	1	17922	1074	38	1		1	ZNF461	19	37129609	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	23252694	37129609	21999374	104	3634											
CATSPERG	57828	broad.mit.edu	37	chr19	38861189	38861189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagctagcgtgtttgtgggCctggtgatcttctacatcgc	5	14	12	10	2	3	1	1	1	2	0	4	1	3	1	1	2	3	2	1	2	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:38861189C>T	ENST00000409235.3	+	29	3352	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	CATSPERG_ENST00000410018.1_Silent_p.G1039G|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1079					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTTGTGGGCCTGGTGATCT	0.522																																						uc002oih.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(3235-3237)ggC>ggT		Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.							250	181	204					19																	38861189		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38861189C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3237C>T	19.37:g.38861189C>T						CATSPERG_uc002oig.4_Silent_p.G1039G|CATSPERG_uc002oif.4_Silent_p.G719G|CATSPERG_uc010efw.3_Non-coding_Transcript	p.G1079G	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			28	3324	+			1079					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.3237C>T	CCDS12514.2																																																																																				0.522	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		T	38861189	C	T	38861189	2	4	56	1	0	0	0	0	0	0	0	1	2692	726	26	3		3	CATSPERG	19	38861189	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	1731580	38861189	20267794	105	3635											
ZNF28	7576	broad.mit.edu	37	chr19	53303202	53303202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattacacttgtaaggtttCtctccagtatgaagcctacg	10	14	7	10	1	2	1	1	1	1	0	4	1	3	1	2	1	3	3	2	1	5	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53303202C>G	ENST00000457749.2	-	4	2015	c.1896G>C	c.(1894-1896)gaG>gaC	p.E632D	ZNF28_ENST00000414252.2_Missense_Mutation_p.E579D|ZNF28_ENST00000438150.2_Missense_Mutation_p.E579D|ZNF28_ENST00000360272.4_Missense_Mutation_p.E579D	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.433																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1894-1896)gaG>gaC		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							195	181	186					19																	53303202		2203	4297	6500	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303202C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1896G>C	19.37:g.53303202C>G	ENSP00000397693:p.Glu632Asp					ZNF28_uc002qac.3_Missense_Mutation_p.E578D|ZNF28_uc010eqe.3_Missense_Mutation_p.E578D|ZNF28_uc021uza.1_Missense_Mutation_p.E579D	p.E632D	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	2053	-			632					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1896G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.84	1.462682	0.26248	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30854	0.0778	N	0.25825	0.765	0.22954	N	0.998518	D	0.61697	0.99	P	0.59012	0.85	T	0.12760	-1.0535	9	0.62326	D	0.03	.	10.6341	0.45554	0.0:1.0:0.0:0.0	.	632	P17035	ZNF28_HUMAN	D	579;632;579;579	ENSP00000412143:E579D;ENSP00000397693:E632D;ENSP00000353410:E579D;ENSP00000444965:E579D	ENSP00000353410:E579D	E	-	3	2	ZNF28	57995014	0.008000	0.16893	0.752000	0.31206	0.702000	0.40608	0.322000	0.19576	0.995000	0.38917	0.298000	0.19748	GAG		0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		G	53303202	C	G	53303202	3	3	56	1	0	0	0	0	1	0	0	0	17810	912	32	5	264	5	ZNF28	19	53303202	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	14442013	53303202	5825781	106	3636			1	10		3	3	1098	C		9.617218e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304215	53304215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattcataaggtttgtctgCagtatgaagcgccttgtgaa	11	13	10	7	1	2	2	1	2	1	0	2	2	2	2	1	1	2	3	1	1	4	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304215C>T	ENST00000457749.2	-	4	1002	c.883G>A	c.(883-885)Gca>Aca	p.A295T	ZNF28_ENST00000414252.2_Missense_Mutation_p.A242T|ZNF28_ENST00000438150.2_Missense_Mutation_p.A242T|ZNF28_ENST00000360272.4_Missense_Mutation_p.A242T	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTGTCTGCAGTATGAAGC	0.388																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(883-885)Gca>Aca		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							146	139	141					19																	53304215		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304215C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.883G>A	19.37:g.53304215C>T	ENSP00000397693:p.Ala295Thr					ZNF28_uc002qac.3_Missense_Mutation_p.A241T|ZNF28_uc010eqe.3_Missense_Mutation_p.A241T|ZNF28_uc021uza.1_Missense_Mutation_p.A242T	p.A295T	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	1040	-			295					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.883G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.91	1.484427	0.26598	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	1.2	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	N	0.16862	0.45	0.20821	N	0.999849	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	9	0.72032	D	0.01	.	5.7959	0.18387	0.3138:0.6862:0.0:0.0	.	295	P17035	ZNF28_HUMAN	T	242;295;242;242;242	ENSP00000412143:A242T;ENSP00000397693:A295T;ENSP00000353410:A242T;ENSP00000444965:A242T;ENSP00000375661:A242T	ENSP00000353410:A242T	A	-	1	0	ZNF28	57996027	0.001000	0.12720	0.071000	0.20095	0.011000	0.07611	1.396000	0.34531	0.607000	0.29982	0.186000	0.17326	GCA		0.388	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53304215	C	T	53304215	3	4	56	1	0	0	0	0	1	0	0	0	17810	710	25	3	1277	3	ZNF28	19	53304215	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1013	53304215	5824768	107	3637			1	10		3	3	1098	C		9.617218e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304299	53304299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacttgtaaggtttctcatCaatgtgagatctacgatggc	11	13	9	8	1	3	1	2	1	2	1	4	3	3	1	0	2	1	2	0	2	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304299C>G	ENST00000457749.2	-	4	918	c.799G>C	c.(799-801)Gat>Cat	p.D267H	ZNF28_ENST00000414252.2_Missense_Mutation_p.D214H|ZNF28_ENST00000438150.2_Missense_Mutation_p.D214H|ZNF28_ENST00000360272.4_Missense_Mutation_p.D214H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTCTCATCAATGTGAGAT	0.398																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(799-801)Gat>Cat		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							158	137	144					19																	53304299		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304299C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.799G>C	19.37:g.53304299C>G	ENSP00000397693:p.Asp267His					ZNF28_uc002qac.3_Missense_Mutation_p.D213H|ZNF28_uc010eqe.3_Missense_Mutation_p.D213H|ZNF28_uc021uza.1_Missense_Mutation_p.D214H	p.D267H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	956	-			267					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.799G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	11.73	1.725194	0.30593	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.17854	2.39;2.39;2.39;2.39;2.25	1.37	1.37	0.22104	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	L	0.47078	1.49	0.09310	N	1	P	0.43231	0.801	P	0.48524	0.58	T	0.11036	-1.0604	9	0.87932	D	0	.	7.7701	0.29004	0.0:1.0:0.0:0.0	.	267	P17035	ZNF28_HUMAN	H	214;267;214;214;214	ENSP00000412143:D214H;ENSP00000397693:D267H;ENSP00000353410:D214H;ENSP00000444965:D214H;ENSP00000375661:D214H	ENSP00000353410:D214H	D	-	1	0	ZNF28	57996111	0.000000	0.05858	0.019000	0.16419	0.024000	0.10985	0.202000	0.17295	0.726000	0.32339	0.298000	0.19748	GAT		0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		G	53304299	C	G	53304299	3	3	56	1	0	0	0	0	1	0	0	0	17810	826	29	5	1361	5	ZNF28	19	53304299	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	84	53304299	5824684	108	3638			1	10		3	3	1098	C		9.617218e-06
LILRA6	79168	broad.mit.edu	37	chr19	54746595	54746595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctgtgagggcgggCgtcatggcgtctccttccgg	4	8	18	11	4	2	1	1	1	1	0	4	1	3	1	2	5	1	2	2	5	0	1	rs369456930		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:54746595C>T	ENST00000396365.2	-	1	45	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRA6_ENST00000270464.5_Silent_p.T2T|LILRA6_ENST00000245621.5_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T|LILRA6_ENST00000419410.2_Silent_p.T2T|LILRA6_ENST00000440558.2_Silent_p.T2T	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	2					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(4-6)acG>acA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.		G		1,4283		0,1,2141	68	60	63		6	-0.5	0	19		63	1,8525		0,1,4262	no	coding-synonymous	LILRA6	NM_024318.2		0,2,6403	TT,TC,CC		0.0117,0.0233,0.0156		2/482	54746595	2,12808	2142	4263	6405	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54746595C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.6G>A	19.37:g.54746595C>T						LILRB3_uc002qew.2_Intron|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.T2T|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.T2T|LILRB3_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.T2T|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc010yep.1_Silent_p.T2T|LILRB3_uc010yeq.1_Silent_p.T2T|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.T2T|LILRB3_uc002qev.1_5'Flank	p.T2T	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	0	130	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		2						Silent	SNP	ENST00000396365.2	37	c.6G>A	CCDS42610.1																																																																																				0.647	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54746595	C	T	54746595	2	4	56	1	0	0	0	0	0	0	0	1	8789	755	27	1		1	LILRA6	19	54746595	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	1442296	54746595	4382388	109	3639											
NLRP7	199713	broad.mit.edu	37	chr19	55449588	55449588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcctgccgagcccagttCggaatggttaggtaagtgca	10	9	13	9	2	0	1	0	0	0	1	2	3	1	2	3	3	3	4	3	3	3	3	rs370874996		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:55449588C>T	ENST00000590030.1	-	4	1993	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Silent_p.P679P|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000340844.2_Silent_p.P651P|NLRP7_ENST00000592784.1_Silent_p.P651P|NLRP7_ENST00000588756.1_Silent_p.P651P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	651			P -> S (in HYDM1). {ECO:0000269|PubMed:19246479}.				ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCCCAGTTCGGAATGGTTA	0.488																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1951-1953)ccG>ccA		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							89	84	86					19																	55449588		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55449588C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1953G>A	19.37:g.55449588C>T						NLRP7_uc010esk.3_Silent_p.P651P|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Silent_p.P651P|NLRP7_uc010esl.3_Silent_p.P679P	p.P651P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	2029	-			651		P -> S (in HYDM).			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1953G>A	CCDS33109.1																																																																																				0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55449588	C	T	55449588	2	4	56	1	0	0	0	0	0	0	0	1	10482	871	31	2		2	NLRP7	19	55449588	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	702993	55449588	3679395	110	3640											
UMODL1	89766	broad.mit.edu	37	chr21	43519135	43519135	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaccacactttccatgTccgggtttaccggggtatgg	9	10	11	11	2	0	1	0	0	0	1	2	1	2	1	4	4	2	2	4	4	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr21:43519135T>G	ENST00000408910.2	+	7	1031	c.1031T>G	c.(1030-1032)gTc>gGc	p.V344G	UMODL1_ENST00000408989.2_Missense_Mutation_p.V344G|UMODL1_ENST00000400427.1_Missense_Mutation_p.V272G|UMODL1_ENST00000400424.2_Missense_Mutation_p.V272G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTTCCATGTCCGGGTTTAC	0.547																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1030-1032)gTc>gGc		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							100	100	100					21																	43519135		1943	4132	6075	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519135T>G		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1031T>G	21.37:g.43519135T>G	ENSP00000386147:p.Val344Gly					UMODL1_uc002zad.1_Missense_Mutation_p.V272G|UMODL1_uc002zae.1_Missense_Mutation_p.V272G|UMODL1_uc002zaf.1_Missense_Mutation_p.V344G|UMODL1_uc010gow.1_Missense_Mutation_p.V136G|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V89G	p.V344G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			6	1031	+			344			Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1031T>G	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954021	0.34471	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.29	4.29	0.51040	Fibronectin, type III (2);	0.169423	0.27088	N	0.020987	T	0.68421	0.2999	L	0.34521	1.04	0.52099	D	0.999947	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.83275	0.986;0.996;0.916	T	0.71573	-0.4552	10	0.87932	D	0	-25.1079	11.6465	0.51263	0.0:0.0:0.0:1.0	.	272;344;344	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	G	272;272;344;344;190	ENSP00000383279:V272G;ENSP00000383276:V272G;ENSP00000386126:V344G;ENSP00000386147:V344G	ENSP00000369829:V190G	V	+	2	0	UMODL1	42392204	0.435000	0.25577	0.106000	0.21319	0.002000	0.02628	2.515000	0.45512	1.883000	0.54544	0.533000	0.62120	GTC		0.547	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			G	43519135	T	G	43519135	3	3	56	1	0	0	0	0	1	0	0	0	16977	1667	58	5	1057	5	UMODL1	21	43519135	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		43519135	4610760	111	3641											
DGCR2	9993	broad.mit.edu	37	chr22	19044577	19044577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcgtggtgccgcagggtggGgaaatggaagcactgaagct	9	7	18	7	2	0	1	0	1	0	0	1	3	0	3	1	5	3	3	1	5	3	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:19044577G>C	ENST00000263196.7	-	6	971	c.724C>G	c.(724-726)Ccc>Gcc	p.P242A	DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P201A|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	242					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCAGGGTGGGGAAATGGAAG	0.572																																						uc002zoq.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(724-726)Ccc>Gcc		Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.							86	65	72					22																	19044577		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19044577G>C	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.724C>G	22.37:g.19044577G>C	ENSP00000263196:p.Pro242Ala					DGCR2_uc021wkx.1_Missense_Mutation_p.P239A|DGCR2_uc021wky.1_Missense_Mutation_p.P201A|DGCR2_uc021wkz.1_Missense_Mutation_p.P18A|DGCR2_uc011agr.1_Missense_Mutation_p.P198A|DGCR2_uc002zor.1_Missense_Mutation_p.P18A	p.P242A	NM_005137	NP_005128	P98153	IDD_HUMAN			5	972	-	Colorectal(54;0.0993)		242					A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.724C>G	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664974	0.88251	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000447928	T;D	0.96940	0.93;-4.18	5.56	5.56	0.83823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.096266	0.64402	D	0.000001	D	0.97445	0.9164	M	0.63428	1.95	0.80722	D	1	D;D	0.62365	0.991;0.969	P;P	0.61658	0.892;0.659	D	0.97825	1.0259	10	0.66056	D	0.02	.	19.1403	0.93444	0.0:0.0:1.0:0.0	.	198;242	B7Z3T5;P98153	.;IDD_HUMAN	A	201;242;242	ENSP00000440062:P201A;ENSP00000263196:P242A	ENSP00000263196:P242A	P	-	1	0	DGCR2	17424577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.621000	0.67743	2.622000	0.88805	0.655000	0.94253	CCC		0.572	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		C	19044577	G	C	19044577	3	2	56	1	0	0	0	0	1	0	0	0	4461	1232	43	5	948	5	DGCR2	22	19044577	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		19044577	32259989	112	3642											
CACNA1I	8911	broad.mit.edu	37	chr22	39966921	39966921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacacccagacctggCgcctattgccttcttctgcc	5	11	7	18	1	2	1	0	0	2	1	3	1	3	1	6	1	2	0	6	1	1	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:39966921C>T	ENST00000402142.3	+	1	164	c.164C>T	c.(163-165)gCg>gTg	p.A55V	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A55V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A55V|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A55V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A55V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A55V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	55					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGACCTGGCGCCTATTGCC	0.657																																						uc003ayc.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(163-165)gCg>gTg		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						81	90	87					22																	39966921		2077	4189	6266	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39966921C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.164C>T	22.37:g.39966921C>T	ENSP00000385019:p.Ala55Val					CACNA1I_uc003ayd.3_Missense_Mutation_p.A55V	p.A55V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			0	164	+	Melanoma(58;0.0749)		55					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.164C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694117	0.68386	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97114	-4.22;-4.17;-4.22;-4.17;-4.25;-4.14	5.27	5.27	0.74061	.	6.217160	0.01226	N	0.008238	D	0.96929	0.8997	L	0.32530	0.975	0.45791	D	0.998671	D;D	0.61697	0.99;0.983	P;B	0.49332	0.607;0.403	D	0.87786	0.2615	10	0.52906	T	0.07	.	19.2321	0.93843	0.0:1.0:0.0:0.0	.	55;55	Q9P0X4-4;Q9P0X4	.;CAC1I_HUMAN	V	55	ENSP00000385019:A55V;ENSP00000384093:A55V;ENSP00000383887:A55V;ENSP00000385680:A55V;ENSP00000337829:A55V;ENSP00000383028:A55V	ENSP00000337829:A55V	A	+	2	0	CACNA1I	38296867	1.000000	0.71417	0.958000	0.39756	0.834000	0.47266	5.503000	0.66962	2.633000	0.89246	0.561000	0.74099	GCG		0.657	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		T	39966921	C	T	39966921	3	4	56	1	0	0	0	0	1	0	0	0	2546	768	27	1	166	1	CACNA1I	22	39966921	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	20922344	39966921	11337645	113	3643											
DDX53	168400	broad.mit.edu	37	chrX	23019452	23019452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttgaaagatcctatGattgtttatgttggtaatct	10	20	7	4	0	2	3	0	2	2	1	3	3	3	3	1	1	0	3	1	1	5	8			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:23019452G>T	ENST00000327968.5	+	1	1366	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	426	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGATCCTATGATTGTTTATG	0.373																																						uc004daj.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1276-1278)atG>atT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.							127	124	125					X																	23019452		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019452G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1278G>T	X.37:g.23019452G>T	ENSP00000368667:p.Met426Ile						p.M426I	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			0	1375	+			426			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1278G>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	6.207	0.406264	0.11754	.	.	ENSG00000184735	ENST00000327968	T	0.04194	3.68	4.17	3.28	0.37604	DEAD-like helicase (2);	0.040415	0.85682	D	0.000000	T	0.02230	0.0069	N	0.00094	-2.165	0.44635	D	0.997615	D	0.76494	0.999	D	0.85130	0.997	T	0.56123	-0.8031	10	0.02654	T	1	-12.6683	10.49	0.44746	0.0:0.0:0.8044:0.1956	.	426	Q86TM3	DDX53_HUMAN	I	426	ENSP00000368667:M426I	ENSP00000368667:M426I	M	+	3	0	DDX53	22929373	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	4.546000	0.60705	0.683000	0.31428	0.600000	0.82982	ATG		0.373	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		T	23019452	G	T	23019452	3	4	56	1	0	0	0	0	1	0	0	0	4371	1290	45	5	1280	5	DDX53	23	23019452	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		23019452	132251108	114	3644											
PIM2	11040	broad.mit.edu	37	chrX	48775821	48775821	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgacggatacctggagtcGatctgtgaggcggtgtcctg	7	10	15	9	3	1	2	0	2	1	0	3	5	2	4	2	4	1	0	2	4	1	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:48775821G>A	ENST00000376509.4	-	2	352	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	55	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						ACCTGGAGTCGATCTGTGAGG	0.652																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(163-165)Cga>Tga		Homo sapiens pim-2 oncogene (PIM2), mRNA.							49	41	44					X																	48775821		2203	4300	6503	SO:0001587	stop_gained	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48775821G>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.163C>T	X.37:g.48775821G>A	ENSP00000365692:p.Arg55*						p.R55*	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			1	465	-			55			Protein kinase.		A8K4G6|Q99739	Nonsense_Mutation	SNP	ENST00000376509.4	37	c.163C>T	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	37	6.279009	0.97435	.	.	ENSG00000102096	ENST00000376509	.	.	.	4.67	3.77	0.43336	.	0.087369	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.8103	0.23801	0.0:0.1854:0.6076:0.207	.	.	.	.	X	55	.	ENSP00000365692:R55X	R	-	1	2	PIM2	48660765	1.000000	0.71417	0.981000	0.43875	0.680000	0.39746	1.570000	0.36439	1.031000	0.39867	0.544000	0.68410	CGA		0.652	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			A	48775821	G	A	48775821	4	1	56	1	0	0	0	0	0	1	0	0	11928	1066	37	2	792	2	PIM2	23	48775821	Nonsense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	25756369	48775821	106494739	115	3645											
CSTF2	1478	broad.mit.edu	37	chrX	100075410	100075410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactcaacagagctatggCgggtttgactgtgagagacc	10	8	13	10	2	1	4	1	2	0	2	1	6	1	4	2	2	2	2	2	2	2	2	rs368704847		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:100075410C>T	ENST00000372972.2	+	1	21	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CSTF2_ENST00000415585.2_Missense_Mutation_p.A2V|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	2					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGCTATGGCGGGTTTGACT	0.597																																						uc004egh.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(4-6)gCg>gTg		Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.							120	86	98					X																	100075410		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100075410C>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.5C>T	X.37:g.100075410C>T	ENSP00000362063:p.Ala2Val					CSTF2_uc010nnd.3_Missense_Mutation_p.A2V|CSTF2_uc004egi.3_Missense_Mutation_p.A2V	p.A2V	NM_001325	NP_001316	P33240	CSTF2_HUMAN			0	63	+			2					Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.5C>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335816	0.81801	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.15139	2.45;2.49	4.44	4.44	0.53790	.	0.107472	0.64402	D	0.000007	T	0.11196	0.0273	N	0.14661	0.345	0.80722	D	1	P;B;P	0.37548	0.599;0.171;0.561	B;B;B	0.31812	0.136;0.071;0.032	T	0.15093	-1.0449	10	0.72032	D	0.01	-7.0788	16.6695	0.85262	0.0:1.0:0.0:0.0	.	2;2;2	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	2	ENSP00000387996:A2V;ENSP00000362063:A2V	ENSP00000362063:A2V	A	+	2	0	CSTF2	99962066	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.834000	0.62774	2.196000	0.70406	0.600000	0.82982	GCG		0.597	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		T	100075410	C	T	100075410	3	4	56	1	0	0	0	0	1	0	0	0	3984	768	27	1	7	1	CSTF2	23	100075410	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	51299589	100075410	55195150	116	3646											
BCORL1	63035	broad.mit.edu	37	chrX	129155121	129155121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacgagccgacagccacgaGgaaggtaggccccgcggccc	11	1	14	15	5	0	0	0	0	0	0	0	4	0	1	5	4	3	1	5	4	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129155121G>A	ENST00000218147.7	+	5	3800	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	BCORL1_ENST00000303743.5_Silent_p.E1201E|BCORL1_ENST00000540052.1_Silent_p.E1201E|BCORL1_ENST00000359304.2_Silent_p.E1201E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1201					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGCCACGAGGAAGGTAGGC	0.637																																						uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3601-3603)gaG>gaA		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							27	28	28					X																	129155121		2199	4294	6493	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155121G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3603G>A	X.37:g.129155121G>A						BCORL1_uc010nrd.1_Silent_p.E1103E	p.E1201E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			3	3647	+			1201					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.3603G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	5.399	0.258843	0.10239	.	.	ENSG00000085185	ENST00000441294	.	.	.	6.17	4.41	0.53225	.	.	.	.	.	T	0.58935	0.2157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56541	-0.7962	4	.	.	.	-20.6852	8.3929	0.32540	0.2357:0.0:0.7643:0.0	.	.	.	.	R	637	.	.	G	+	1	0	BCORL1	128982802	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	1.980000	0.40618	1.354000	0.45846	0.600000	0.82982	GGA		0.637	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129155121	G	A	129155121	2	1	56	1	0	0	0	0	0	0	0	1	1387	991	35	3		3	BCORL1	23	129155121	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	29079711	129155121	26115439	117	3647											
SLC25A14	9016	broad.mit.edu	37	chrX	129506901	129506901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttttattacatacgagCagctaaagaggcttcaaatc	14	13	7	7	1	1	1	1	0	0	1	2	2	1	1	0	1	4	4	0	1	6	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129506901C>A	ENST00000218197.5	+	10	1182	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	SLC25A14_ENST00000361980.5_Missense_Mutation_p.Q316K|SLC25A14_ENST00000339231.3_Missense_Mutation_p.Q347K	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	319					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TACATACGAGCAGCTAAAGAG	0.398																																						uc004evr.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(1039-1041)Cag>Aag		Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.							221	215	217					X																	129506901		2203	4300	6503	SO:0001583	missense	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129506901C>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.955C>A	X.37:g.129506901C>A	ENSP00000218197:p.Gln319Lys					SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K	p.Q347K	NM_022810	NP_073721	O95258	UCP5_HUMAN			10	1211	+			319					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	c.1039C>A	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674416	0.67928	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.78246	-1.16;-1.16;-1.16	4.06	4.06	0.47325	Mitochondrial carrier domain (2);	0.138818	0.49916	D	0.000125	D	0.83797	0.5332	L	0.55103	1.725	0.80722	D	1	D;D;D	0.64830	0.994;0.988;0.991	D;D;D	0.72075	0.925;0.96;0.976	D	0.84579	0.0660	10	0.54805	T	0.06	-6.4648	12.5541	0.56244	0.0:1.0:0.0:0.0	.	347;316;319	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	K	319;316;347	ENSP00000218197:Q319K;ENSP00000354455:Q316K;ENSP00000342797:Q347K	ENSP00000218197:Q319K	Q	+	1	0	SLC25A14	129334582	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.075000	0.71261	2.002000	0.58637	0.600000	0.82982	CAG		0.398	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		A	129506901	C	A	129506901	3	1	56	1	0	0	0	0	1	0	0	0	14476	711	25	5	993	5	SLC25A14	23	129506901	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	351780	129506901	25763659	118	3648											
FRMD7	90167	broad.mit.edu	37	chrX	131214270	131214270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttttctcccatattcCaaaagttgcctttgggttcg	6	16	6	13	1	1	0	0	0	1	0	5	0	3	0	4	1	1	2	4	1	3	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:131214270C>A	ENST00000298542.4	-	10	1105	c.930G>T	c.(928-930)ttG>ttT	p.L310F	FRMD7_ENST00000370879.1_Missense_Mutation_p.L190F|FRMD7_ENST00000464296.1_Missense_Mutation_p.L295F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	310					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCCATATTCCAAAAGTTGCC	0.373																																						uc004ewn.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(928-930)ttG>ttT		Homo sapiens FERM domain containing 7 (FRMD7), mRNA.							139	125	130					X																	131214270		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131214270C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.930G>T	X.37:g.131214270C>A	ENSP00000298542:p.Leu310Phe					FRMD7_uc022cdy.1_Missense_Mutation_p.L190F|FRMD7_uc011muy.2_Missense_Mutation_p.L295F	p.L310F	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			9	1108	-	Acute lymphoblastic leukemia(192;0.000127)		310					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.930G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498065	0.44455	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87029	-2.2;-2.2;-2.2	5.6	1.9	0.25705	FERM adjacent (FA) (1);	0.089846	0.47093	D	0.000260	T	0.79112	0.4391	L	0.27053	0.805	0.43207	D	0.995066	P;P	0.43314	0.587;0.803	B;P	0.45343	0.36;0.477	T	0.73477	-0.3970	10	0.62326	D	0.03	.	4.4435	0.11586	0.1467:0.5311:0.0:0.3222	.	295;310	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	F	190;310;295	ENSP00000359916:L190F;ENSP00000298542:L310F;ENSP00000417996:L295F	ENSP00000298542:L310F	L	-	3	2	FRMD7	131041951	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.233000	0.32648	0.183000	0.20059	-0.191000	0.12829	TTG		0.373	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		A	131214270	C	A	131214270	3	1	56	1	0	0	0	0	1	0	0	0	6055	593	21	5	1226	5	FRMD7	23	131214270	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1707369	131214270	24056290	119	3649											
SPANXN3	139067	broad.mit.edu	37	chrX	142596854	142596854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggagttctcttgggaCtgttcattctccagttgatt	6	18	10	7	0	3	2	1	2	2	0	5	4	3	4	1	2	0	3	1	2	0	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142596854C>T	ENST00000370503.2	-	2	299	c.216G>A	c.(214-216)caG>caA	p.Q72Q	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	72										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTTGGGACTGTTCATTCT	0.388																																						uc004fbw.3																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(214-216)caG>caA		Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.							196	171	179					X																	142596854		2203	4300	6503	SO:0001819	synonymous_variant	139067							g.chrX:142596854C>T		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.216G>A	X.37:g.142596854C>T							p.Q72Q	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			1	304	-	Acute lymphoblastic leukemia(192;6.56e-05)		72					Q0ZNK4	Silent	SNP	ENST00000370503.2	37	c.216G>A	CCDS35418.1																																																																																				0.388	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		T	142596854	C	T	142596854	2	4	56	1	0	0	0	0	0	0	0	1	14992	564	20	3		3	SPANXN3	23	142596854	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	11382584	142596854	12673706	120	3650											
UBE2NL	389898	broad.mit.edu	37	chrX	142967366	142967366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggagggacttttaaacGtgaactattacttgcagaag	13	11	12	5	1	0	3	0	2	0	1	0	5	0	5	0	2	4	1	0	2	6	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967366G>A	ENST00000370494.1	+	1	194	c.164G>A	c.(163-165)cGt>cAt	p.R55H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	55						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R55H(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTTAAACGTGAACTATTA	0.418																																						uc004fca.3																			1	Substitution - Missense(1)	p.R55H(2)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(163-165)cGt>cAt		Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.							100	98	99					X																	142967366		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967366G>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.164G>A	X.37:g.142967366G>A	ENSP00000359525:p.Arg55His						p.R55H	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			0	194	+	Acute lymphoblastic leukemia(192;6.56e-05)		55					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.164G>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998892	0.35226	.	.	ENSG00000102069	ENST00000370494	T	0.71817	-0.6	1.1	-0.209	0.13180	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.164354	0.24606	U	0.037096	T	0.42223	0.1193	N	0.08118	0	0.22001	N	0.999425	B	0.28636	0.218	B	0.19946	0.027	T	0.32955	-0.9887	10	0.87932	D	0	1.8896	5.1191	0.14851	0.0:0.0:0.3014:0.6986	.	55	Q5JXB2	UE2NL_HUMAN	H	55	ENSP00000359525:R55H	ENSP00000359525:R55H	R	+	2	0	UBE2NL	142795032	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.918000	0.56432	-0.104000	0.12154	-1.385000	0.01166	CGT		0.418	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		A	142967366	G	A	142967366	3	1	56	1	0	0	0	0	1	0	0	0	16864	1145	40	1	166	1	UBE2NL	23	142967366	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	370512	142967366	12303194	121	3651											
UBE2NL	389898	broad.mit.edu	37	chrX	142967428	142967428	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtacgtttcatgaccaaaAtttatcatccaaatgtagac	16	12	5	8	1	2	2	2	1	0	1	3	2	3	2	2	0	1	3	2	0	7	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967428A>G	ENST00000370494.1	+	1	256	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	76						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACCAAAATTTATCATCC	0.408																																						uc004fca.3																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(226-228)Att>Gtt		Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.							88	84	85					X																	142967428		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967428A>G			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.226A>G	X.37:g.142967428A>G	ENSP00000359525:p.Ile76Val						p.I76V	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			0	256	+	Acute lymphoblastic leukemia(192;6.56e-05)		76					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.226A>G	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	A	6.561	0.471819	0.12461	.	.	ENSG00000102069	ENST00000370494	T	0.74209	-0.82	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.43919	U	0.000507	T	0.70596	0.3242	M	0.73319	2.225	0.58432	D	0.999997	B	0.19583	0.037	B	0.33750	0.169	T	0.64368	-0.6424	10	0.39692	T	0.17	-0.005	6.064	0.19854	1.0:0.0:0.0:0.0	.	76	Q5JXB2	UE2NL_HUMAN	V	76	ENSP00000359525:I76V	ENSP00000359525:I76V	I	+	1	0	UBE2NL	142795094	1.000000	0.71417	0.999000	0.59377	0.140000	0.21249	6.305000	0.72805	0.698000	0.31739	0.158000	0.16466	ATT		0.408	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		G	142967428	A	G	142967428	3	3	56	1	0	0	0	0	1	0	0	0	16864	101	4	4	228	4	UBE2NL	23	142967428	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	62	142967428	12303132	122	3652											
IRAK1	3654	broad.mit.edu	37	chrX	153278845	153278845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgaatgcccgggcacccCcgccaccactgcctgcagct	6	5	9	21	3	0	0	0	0	0	0	1	1	1	0	7	1	4	3	7	1	1	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:153278845C>T	ENST00000369980.3	-	12	1746	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	IRAK1_ENST00000369974.2_Missense_Mutation_p.G448R|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000393682.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	527					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGCACCCCCGCCACCACT	0.667																																						uc004fjs.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(1579-1581)Ggg>Agg		Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.							18	22	21					X																	153278845		2155	4194	6349	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278845C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1579G>A	X.37:g.153278845C>T	ENSP00000358997:p.Gly527Arg					IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R	p.G527R	NM_001569	NP_001560	P51617	IRAK1_HUMAN			11	1658	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		527					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1579G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.41|15.41	2.826560|2.826560	0.50739|0.50739	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000369974	.|T;T	.|0.74421	.|-0.66;-0.84	5.39|5.39	4.53|4.53	0.55603|0.55603	.|Protein kinase-like domain (1);	0.400122|0.400122	0.21431|0.21431	N|N	0.074641|0.074641	T|T	0.54727|0.54727	0.1876|0.1876	N|N	0.08118|0.08118	0|0	0.22827|0.22827	N|N	0.99868|0.99868	.|B;D	.|0.53619	.|0.023;0.961	.|B;P	.|0.44732	.|0.024;0.459	T|T	0.44483|0.44483	-0.9325|-0.9325	6|10	.|0.25106	.|T	.|0.35	-10.7443|-10.7443	8.9404|8.9404	0.35727|0.35727	0.0:0.8956:0.0:0.1044|0.0:0.8956:0.0:0.1044	.|.	.|448;527	.|P51617-4;P51617	.|.;IRAK1_HUMAN	E|R	82;275|527;448	.|ENSP00000358997:G527R;ENSP00000358991:G448R	.|ENSP00000358991:G448R	G|G	-|-	2|1	0|0	IRAK1|IRAK1	152932039|152932039	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.015000|0.015000	0.08874|0.08874	1.114000|1.114000	0.31196|0.31196	1.045000|1.045000	0.40225|0.40225	0.513000|0.513000	0.50165|0.50165	GGG|GGG		0.667	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			T	153278845	C	T	153278845	3	4	56	1	0	0	0	0	1	0	0	0	7821	623	22	3	571	3	IRAK1	23	153278845	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	10311417	153278845	1991715	123	3653											
F8	2157	broad.mit.edu	37	chrX	154225292	154225292	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacagcatgaagactgAcaggatgggaagccatgttc	14	6	11	10	0	0	3	0	2	0	1	1	5	0	5	2	2	3	2	2	2	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:154225292A>T	ENST00000360256.4	-	3	544	c.344T>A	c.(343-345)gTc>gAc	p.V115D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	115	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGAAGACTGACAGGATGGGA	0.448																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM080311	F8	M		c.(343-345)gTc>gAc		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						244	204	218					X																	154225292		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154225292A>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.344T>A	X.37:g.154225292A>T	ENSP00000353393:p.Val115Asp					F8_uc011mzx.1_Missense_Mutation_p.V80D	p.V115D	NM_000132	NP_000123	P00451	FA8_HUMAN			2	515	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		115			F5/8 type A 1.|Plastocyanin-like 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.344T>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.391117	0.62066	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.98978	-5.29;-5.29;-5.29	5.03	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.201938	0.42053	D	0.000764	D	0.98905	0.9629	M	0.72479	2.2	0.46317	D	0.998981	D;D	0.76494	0.999;0.961	D;P	0.67900	0.954;0.688	D	0.99537	1.0962	10	0.72032	D	0.01	-10.7563	10.1994	0.43073	1.0:0.0:0.0:0.0	.	80;115	B1B0G8;P00451	.;FA8_HUMAN	D	115;80;109	ENSP00000353393:V115D;ENSP00000409446:V80D;ENSP00000389153:V109D	ENSP00000353393:V115D	V	-	2	0	F8	153878486	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.513000	0.45494	1.674000	0.50907	0.356000	0.21956	GTC		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154225292	A	T	154225292	3	4	56	1	0	0	0	0	1	0	0	0	5350	275	10	5	6835	5	F8	23	154225292	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	946447	154225292	1045268	124	3654											
CPSF3L	54973	broad.mit.edu	37	chr1	1249704	1249704	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtctccaggaggatgcaGagctcctgggcgcggcccag	8	5	16	12	2	1	1	0	0	1	1	3	3	2	3	3	5	2	2	3	5	1	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:1249704G>C	ENST00000435064.1	-	8	826	c.744C>G	c.(742-744)ctC>ctG	p.L248L	CPSF3L_ENST00000419704.1_Silent_p.L147L|CPSF3L_ENST00000540437.1_Silent_p.L254L|CPSF3L_ENST00000411962.1_Silent_p.L150L|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Silent_p.L219L|CPSF3L_ENST00000450926.2_Silent_p.L226L|CPSF3L_ENST00000421495.2_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	248					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGAGGATGCAGAGCTCCTGGG	0.667																																						uc001aef.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(760-762)ctC>ctG		Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.							18	21	20					1																	1249704		2190	4284	6474	SO:0001819	synonymous_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1249704G>C	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.744C>G	1.37:g.1249704G>C						CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Silent_p.L248L|CPSF3L_uc009vjz.1_Silent_p.L226L|CPSF3L_uc010nyj.1_Silent_p.L219L|CPSF3L_uc001aeg.1_Silent_p.L124L|CPSF3L_uc001aeh.1_Silent_p.L147L|CPSF3L_uc001aei.1_Silent_p.L150L|CPSF3L_uc001aek.1_5'UTR	p.L254L			Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	9	1275	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	248					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.762C>G	CCDS21.1																																																																																				0.667	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		C	1249704	G	C	1249704	2	2	57	1	0	0	0	0	0	0	0	1	3827	929	33	5		5	CPSF3L	1	1249704	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08		1249704	248000917	1	3655											
THEM5	284486	broad.mit.edu	37	chr1	151820732	151820732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttttagaaaaggtctcGtccatcatggctgccaggga	10	10	12	9	1	2	1	1	0	1	1	4	2	3	2	2	3	1	3	2	3	3	2	rs372391484		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:151820732G>A	ENST00000368817.5	-	4	632	c.501C>T	c.(499-501)gaC>gaT	p.D167D	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	167					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587																																						uc021oyw.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(499-501)gaC>gaT		Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.		G		0,4406		0,0,2203	68	68	68		501	-5	0.8	1		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THEM5	NM_182578.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		167/248	151820732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284486						hydrolase activity	g.chr1:151820732G>A	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.501C>T	1.37:g.151820732G>A							p.D167D	NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	633	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		167					Q5T1C3	Silent	SNP	ENST00000368817.5	37	c.501C>T	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892271	0.17613	0.0	1.16E-4	ENSG00000196407	ENST00000453881	.	.	.	5.42	-4.98	0.03019	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52830	-0.8523	4	.	.	.	-22.1731	12.2909	0.54817	0.5155:0.0:0.4845:0.0	.	.	.	.	M	114	.	.	T	-	2	0	THEM5	150087356	0.045000	0.20229	0.839000	0.33178	0.925000	0.55904	-1.741000	0.01837	-1.343000	0.02219	-1.578000	0.00866	ACG		0.587	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		A	151820732	G	A	151820732	2	1	57	1	0	0	0	0	0	0	0	1	15856	1136	40	1		1	THEM5	1	151820732	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	150571028	151820732	97429889	2	3656											
HNRPLL	92906	broad.mit.edu	37	chr2	38812883	38812883	+	Frame_Shift_Del	DEL	C	C	-																															ctggccgagtgatccttttgCttgtagaatagttgaaaaaa																										TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:38812883delC	ENST00000449105.3	-	3	788	c.449delG	c.(448-450)agcfs	p.S150fs	HNRNPLL_ENST00000378915.3_Frame_Shift_Del_p.S150fs|HNRNPLL_ENST00000409636.1_Frame_Shift_Del_p.S145fs|HNRNPLL_ENST00000608859.1_Frame_Shift_Del_p.S150fs|HNRNPLL_ENST00000358367.4_Frame_Shift_Del_p.S150fs|HNRNPLL_ENST00000409328.1_Frame_Shift_Del_p.S150fs|HNRNPLL_ENST00000410076.1_Frame_Shift_Del_p.S145fs			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	150	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										GATCCTTTTGCTTGTAGAATA	0.408																																						uc021vgc.1																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10						c.(448-450)agcfs		Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.							157	148	151					2																	38812883		2203	4300	6503	SO:0001589	frameshift_variant	92906				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr2:38812883delC	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.449delG	2.37:g.38812883delC	ENSP00000390625:p.Ser150fs					HNRPLL_uc021vgb.1_Frame_Shift_Del_p.S145fs	p.S150fs	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN			2	859	-		all_hematologic(82;0.248)	150			RRM 1.		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Frame_Shift_Del	DEL	ENST00000449105.3	37	c.449delG																																																																																					0.408	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		-	38812883	C	-	38812883	7	5	57	1	0	1	0	1	0	0	0	0	7277	797	28	0	1223	0	HNRPLL	2	38812883	Frame_Shift_Del	DEL	C	TCGA-06-0650-01A-02D-1696-08		38812883	204386490	3	3657											
C2orf89	129293	broad.mit.edu	37	chr2	85051124	85051124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaattgccggagtcgcggCctccgctgtgaccgcctccg	4	8	13	16	6	0	2	0	2	0	0	3	3	2	3	6	2	1	1	6	2	1	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:85051124C>A	ENST00000409520.2	-	6	1329	c.1287G>T	c.(1285-1287)agG>agT	p.R429S	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R380S	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	429					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										GGAGTCGCGGCCTCCGCTGTG	0.652																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1285-1287)agG>agT		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							36	42	40					2																	85051124		2202	4300	6502	SO:0001583	missense	129293					integral to membrane		g.chr2:85051124C>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1287G>T	2.37:g.85051124C>A	ENSP00000387075:p.Arg429Ser					C2orf89_uc002sou.4_Missense_Mutation_p.R380S	p.R429S	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1376	-			429					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1287G>T		.	.	.	.	.	.	.	.	.	.	c	12.16	1.854112	0.32791	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.25085	1.82;1.85	3.65	1.7	0.24286	.	1.154120	0.06700	N	0.771240	T	0.11836	0.0288	.	.	.	0.09310	N	1	B;B	0.16603	0.018;0.013	B;B	0.16289	0.007;0.015	T	0.35151	-0.9800	9	0.09843	T	0.71	.	4.8788	0.13668	0.0:0.6544:0.22:0.1256	.	429;380	Q86V40;Q86V40-2	CB089_HUMAN;.	S	380;429	ENSP00000335004:R380S;ENSP00000387075:R429S	ENSP00000335004:R380S	R	-	3	2	C2orf89	84904635	0.018000	0.18449	0.001000	0.08648	0.182000	0.23217	0.700000	0.25601	0.288000	0.22398	0.444000	0.29173	AGG		0.652	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		A	85051124	C	A	85051124	3	1	57	1	0	0	0	0	1	0	0	0	2203	738	26	5	238	5	C2orf89	2	85051124	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	46238241	85051124	158148249	4	3658											
CASR	846	broad.mit.edu	37	chr3	121976021	121976021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcccaacttgacgctGggatacaggatatttgacac	10	12	8	11	1	1	2	0	2	1	0	2	4	2	4	1	2	2	1	1	2	3	6			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr3:121976021G>A	ENST00000490131.1	+	3	651	c.279G>A	c.(277-279)ctG>ctA	p.L93L	CASR_ENST00000498619.1_Silent_p.L93L|CASR_ENST00000296154.5_Silent_p.L93L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	93					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTTGACGCTGGGATACAGGA	0.448																																						uc003eew.4																			0		p.T92M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(277-279)ctG>ctA		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						123	123	123					3																	121976021		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121976021G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.279G>A	3.37:g.121976021G>A						CASR_uc003eev.4_Silent_p.L93L	p.L93L	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	2	717	+			93					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.279G>A	CCDS3010.1																																																																																				0.448	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	121976021	G	A	121976021	2	1	57	1	0	0	0	0	0	0	0	1	2682	1335	47	3		3	CASR	3	121976021	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08		121976021	76046409	5	3659											
RBM47	54502	broad.mit.edu	37	chr4	40440364	40440364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccgcgctggcgtagaCgatcacgtccagcacgccct	6	6	13	16	7	1	1	1	0	0	1	3	2	2	1	3	2	1	3	3	2	1	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:40440364C>T	ENST00000381793.2	-	3	943	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	RBM47_ENST00000514014.1_Missense_Mutation_p.V145I|RBM47_ENST00000319592.4_Missense_Mutation_p.V183I|RBM47_ENST00000295971.7_Missense_Mutation_p.V183I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.V183I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGGCGTAGACGATCACGTCC	0.637																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(547-549)Gtc>Atc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							66	60	62					4																	40440364		2203	4299	6502	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440364C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.547G>A	4.37:g.40440364C>T	ENSP00000371212:p.Val183Ile					RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	p.V183I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1257	-			183			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.547G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906327	0.52333	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473	T;T;T;T;T;T;T	0.24908	2.41;2.41;2.41;2.41;2.41;2.41;1.83	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.58810	1.83	0.80722	D	1	P;P	0.37141	0.584;0.54	B;B	0.41202	0.152;0.35	T	0.02743	-1.1116	10	0.40728	T	0.16	-41.0621	20.0591	0.97667	0.0:1.0:0.0:0.0	.	183;183	A0AV96-2;A0AV96	.;RBM47_HUMAN	I	183;183;183;183;145;183;183	ENSP00000320108:V183I;ENSP00000371212:V183I;ENSP00000371214:V183I;ENSP00000295971:V183I;ENSP00000423243:V145I;ENSP00000422564:V183I;ENSP00000421589:V183I	ENSP00000295971:V183I	V	-	1	0	RBM47	40135121	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.089000	0.71384	2.747000	0.94245	0.462000	0.41574	GTC		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440364	C	T	40440364	3	4	57	1	0	0	0	0	1	0	0	0	13141	536	19	1	1250	1	RBM47	4	40440364	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		40440364	150713912	6	3660											
CSN1S1	1446	broad.mit.edu	37	chr4	70810660	70810660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctttcccaccgttttcCgacatctccaatcccactgc	6	13	4	18	2	1	0	0	0	1	0	6	1	5	0	6	0	1	2	6	0	1	4			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:70810660C>T	ENST00000246891.4	+	15	544	c.495C>T	c.(493-495)tcC>tcT	p.S165S	CSN1S1_ENST00000507763.1_Silent_p.S156S|CSN1S1_ENST00000507772.1_Silent_p.S157S|CSN1S1_ENST00000444405.3_Silent_p.S156S|CSN1S1_ENST00000505782.1_Silent_p.S149S	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	165						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CACCGTTTTCCGACATCTCCA	0.423																																						uc003hep.1																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(493-495)tcC>tcT		Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.							270	256	260					4																	70810660		1921	4131	6052	SO:0001819	synonymous_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70810660C>T	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.495C>T	4.37:g.70810660C>T						CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S	p.S165S	NM_001890	NP_001881	P47710	CASA1_HUMAN			14	544	+			165					A1A510|A1A511|E9PB60|Q4PNR5	Silent	SNP	ENST00000246891.4	37	c.495C>T	CCDS47067.1																																																																																				0.423	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			T	70810660	C	T	70810660	2	4	57	1	0	0	0	0	0	0	0	1	3947	639	23	2		2	CSN1S1	4	70810660	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08	30370296	70810660	120343616	7	3661											
FRAS1	80144	broad.mit.edu	37	chr4	79396642	79396642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcacggtgcagaggaCtgggaacctgaaccaatatg	12	7	13	9	1	1	2	1	1	0	1	1	4	1	4	2	3	3	1	2	3	4	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:79396642C>T	ENST00000264895.6	+	54	8173	c.7733C>T	c.(7732-7734)aCt>aTt	p.T2578I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2578	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGCAGAGGACTGGGAACCTG	0.542																																						uc003hlb.2																			0		p.R2578K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7732-7734)aCt>aTt		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							128	142	137					4																	79396642		2119	4231	6350	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79396642C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7733C>T	4.37:g.79396642C>T	ENSP00000264895:p.Thr2578Ile						p.T2578I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			53	8173	+			2577			Calx-beta 1.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7733C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320939	0.41096	.	.	ENSG00000138759	ENST00000264895	T	0.30981	1.51	5.44	3.71	0.42584	.	0.248292	0.39407	N	0.001363	T	0.29749	0.0743	M	0.71296	2.17	0.80722	D	1	B	0.30563	0.285	B	0.32762	0.152	T	0.04495	-1.0947	10	0.23302	T	0.38	.	6.6542	0.22979	0.0:0.565:0.2772:0.1578	.	2578	E9PHH6	.	I	2578	ENSP00000264895:T2578I	ENSP00000264895:T2578I	T	+	2	0	FRAS1	79615666	0.334000	0.24739	0.976000	0.42696	0.994000	0.84299	0.892000	0.28322	0.666000	0.31087	0.591000	0.81541	ACT		0.542	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79396642	C	T	79396642	3	4	57	1	0	0	0	0	1	0	0	0	6042	565	20	3	8022	3	FRAS1	4	79396642	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	8585982	79396642	111757634	8	3662											
ABLIM3	22885	broad.mit.edu	37	chr5	148637907	148637907	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcatgaccatctctgaGtttgaccggctggccctctg	5	13	11	12	1	2	3	0	3	2	0	3	3	2	3	3	3	0	3	3	3	0	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr5:148637907G>C	ENST00000506113.1	+	23	2474	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.E631D|ABLIM3_ENST00000309868.7_Missense_Mutation_p.E664D|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000517451.1_Missense_Mutation_p.E150D|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.E569D			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	664	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTCTGAGTTTGACCGGC	0.517																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1990-1992)gaG>gaC		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							62	59	60					5																	148637907		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148637907G>C	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1992G>C	5.37:g.148637907G>C	ENSP00000425394:p.Glu664Asp					ABLIM3_uc003lpz.1_Missense_Mutation_p.E664D|ABLIM3_uc003lqa.1_Missense_Mutation_p.E561D|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.E631D|ABLIM3_uc003lqd.1_Missense_Mutation_p.E569D|ABLIM3_uc003lqe.1_Missense_Mutation_p.E553D|ABLIM3_uc003lqf.3_Intron	p.E664D	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2243	+			664			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1992G>C	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985115	0.53934	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T	0.59224	0.28;0.34;0.34;0.36;0.63	5.86	3.77	0.43336	Villin headpiece (5);	0.052790	0.85682	D	0.000000	T	0.68118	0.2966	L	0.52266	1.64	0.80722	D	1	B;D;B	0.61697	0.013;0.99;0.07	B;D;B	0.72982	0.009;0.979;0.046	T	0.69628	-0.5094	10	0.54805	T	0.06	.	12.0851	0.53691	0.2061:0.0:0.7939:0.0	.	150;569;664	O94929-4;O94929-3;O94929	.;.;ABLM3_HUMAN	D	569;664;664;631;150;149	ENSP00000315841:E569D;ENSP00000310309:E664D;ENSP00000425394:E664D;ENSP00000420855:E631D;ENSP00000430150:E150D	ENSP00000310309:E664D	E	+	3	2	ABLIM3	148618100	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.250000	0.32850	1.497000	0.48584	0.542000	0.68232	GAG		0.517	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		C	148637907	G	C	148637907	3	2	57	1	0	0	0	0	1	0	0	0	96	1020	36	5	2082	5	ABLIM3	5	148637907	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		148637907	32277353	9	3663											
LY6G6F	259215	broad.mit.edu	37	chr6	31675363	31675363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggctccttcaccaccCtggtagcccaagtccaagtg	9	7	9	16	0	1	0	1	0	0	0	3	0	3	0	5	2	2	3	5	2	3	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:31675363C>A	ENST00000375832.4	+	2	203	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	MEGT1_ENST00000503322.1_Missense_Mutation_p.L61M|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.L61M	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	61	Ig-like V-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTTCACCACCCTGGTAGCCCA	0.592																																						uc003nwb.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						c.(181-183)Ctg>Atg		Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.							45	42	43					6																	31675363		2203	4300	6503	SO:0001583	missense	259215					integral to membrane|plasma membrane		g.chr6:31675363C>A		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.181C>A	6.37:g.31675363C>A	ENSP00000364992:p.Leu61Met					ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.L61M	p.L61M	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			1	181	+			61			Ig-like V-type.		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.181C>A	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	C	6.453	0.451737	0.12223	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.67698	-0.28;-0.28;-0.28	5.17	-3.69	0.04450	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.481497	0.17197	N	0.183283	T	0.38453	0.1041	M	0.62723	1.935	0.09310	N	1	B;B	0.29481	0.245;0.245	B;B	0.35182	0.197;0.14	T	0.45279	-0.9272	10	0.54805	T	0.06	-1.1543	3.6032	0.08032	0.3569:0.2836:0.0:0.3596	.	61;61	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	M	61	ENSP00000452432:L61M;ENSP00000364992:L61M;ENSP00000421232:L61M	ENSP00000364992:L61M	L	+	1	2	XXbac-BPG32J3.19;LY6G6F	31783342	0.005000	0.15991	0.018000	0.16275	0.167000	0.22549	-0.258000	0.08733	-0.328000	0.08539	-0.218000	0.12543	CTG		0.592	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		A	31675363	C	A	31675363	3	1	57	1	0	0	0	0	1	0	0	0	9096	680	24	5	187	5	LY6G6F	6	31675363	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		31675363	139439704	10	3664											
TBX18	9096	broad.mit.edu	37	chr6	85446758	85446758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagctggggggacattcccGaaatctgcatggataagctg	10	8	15	8	1	1	0	0	0	1	0	2	4	2	3	1	5	3	3	1	5	2	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:85446758G>A	ENST00000369663.5	-	8	1806	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	490					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGACATTCCCGAAATCTGCAT	0.527																																						uc003pkl.1																			0		p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1468-1470)tCg>tTg		Homo sapiens T-box 18 (TBX18), mRNA.							152	156	155					6																	85446758		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446758G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1469C>T	6.37:g.85446758G>A	ENSP00000358677:p.Ser490Leu					TBX18_uc010kbq.2_Intron	p.S490L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1469	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	490					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1469C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680807	0.47886	.	.	ENSG00000112837	ENST00000369663	D	0.87179	-2.22	5.48	5.48	0.80851	.	3.507440	0.00604	N	0.000384	T	0.75664	0.3880	N	0.24115	0.695	0.47276	D	0.99937	P	0.51537	0.946	B	0.41723	0.365	T	0.67488	-0.5658	10	0.12430	T	0.62	.	19.3305	0.94285	0.0:0.0:1.0:0.0	.	490	O95935	TBX18_HUMAN	L	490	ENSP00000358677:S490L	ENSP00000358677:S490L	S	-	2	0	TBX18	85503477	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	5.606000	0.67641	2.571000	0.86741	0.585000	0.79938	TCG		0.527	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		A	85446758	G	A	85446758	3	1	57	1	0	0	0	0	1	0	0	0	15650	1059	37	2	358	2	TBX18	6	85446758	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	53771395	85446758	85668309	11	3665											
ASCC3	10973	broad.mit.edu	37	chr6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggccataagttagaggttCaatgctgcgattatcctatt	10	14	9	8	2	1	1	1	0	0	1	3	2	2	1	2	2	2	3	2	2	5	6			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:101037629C>T	ENST00000369162.2	-	36	5775	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1811					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343																																						uc003pqk.3																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(5431-5433)Gaa>Aaa		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							103	106	105					6																	101037629		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101037629C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5431G>A	6.37:g.101037629C>T	ENSP00000358159:p.Glu1811Lys						p.E1811K	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	35	5760	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1811					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5431G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793376	0.31685	.	.	ENSG00000112249	ENST00000369162	T	0.42513	0.97	5.22	5.22	0.72569	Sec63 domain (1);	0.053706	0.64402	D	0.000001	T	0.25044	0.0608	L	0.58810	1.83	0.80722	D	1	B	0.24618	0.107	B	0.22386	0.039	T	0.18681	-1.0329	10	0.09338	T	0.73	.	19.1375	0.93433	0.0:1.0:0.0:0.0	.	1811	Q8N3C0	HELC1_HUMAN	K	1811	ENSP00000358159:E1811K	ENSP00000358159:E1811K	E	-	1	0	ASCC3	101144350	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.228000	0.58619	2.607000	0.88179	0.585000	0.79938	GAA		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		T	101037629	C	T	101037629	3	4	57	1	0	0	0	0	1	0	0	0	1033	835	29	3	1205	3	ASCC3	6	101037629	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	15590871	101037629	70077438	12	3666											
PNLDC1	154197	broad.mit.edu	37	chr6	160240368	160240368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaggcactccccaaacGtcaactgcctgctccagtaa	11	7	8	15	1	1	0	1	0	0	0	3	1	3	1	4	2	4	3	4	2	3	1	rs138386704		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:160240368G>A	ENST00000610273.1	+	18	1654	c.1483G>A	c.(1483-1485)Gtc>Atc	p.V495I	PNLDC1_ENST00000392167.3_Missense_Mutation_p.V506I	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	495						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCCCAAACGTCAACTGCCT	0.617																																						uc003qsy.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1516-1518)Gtc>Atc		Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	88	66	74		1483	-7.8	0.8	6	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PNLDC1	NM_173516.1	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	495/521	160240368	3,13003	2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240368G>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1483G>A	6.37:g.160240368G>A	ENSP00000476448:p.Val495Ile					PNLDC1_uc003qsx.1_Missense_Mutation_p.V495I	p.V506I	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	17	1555	+		Breast(66;0.00519)|Ovarian(120;0.123)	495					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1516G>A	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158311	0.21454	4.54E-4	1.16E-4	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.86	-7.76	0.01232	.	0.904550	0.09461	N	0.799073	T	0.10551	0.0258	N	0.11560	0.145	0.21527	N	0.999654	B;B	0.18310	0.027;0.016	B;B	0.14578	0.011;0.005	T	0.18871	-1.0323	9	0.17369	T	0.5	.	20.2616	0.98447	0.1653:0.0:0.8347:0.0	.	506;495	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	I	495;506	.	ENSP00000275275:V495I	V	+	1	0	PNLDC1	160160358	0.000000	0.05858	0.847000	0.33407	0.016000	0.09150	-0.446000	0.06837	-1.600000	0.01603	-0.291000	0.09656	GTC		0.617	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		A	160240368	G	A	160240368	3	1	57	1	0	0	0	0	1	0	0	0	12148	1145	40	1	1549	1	PNLDC1	6	160240368	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	59202739	160240368	10874699	13	3667											
QKI	9444	broad.mit.edu	37	chr6	163956153	163956153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaaattattggtacCtgcagtaagtaataatttcc	15	13	8	5	0	0	2	0	1	0	1	1	2	1	2	2	1	2	4	2	1	7	7			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:163956153C>G	ENST00000361752.3	+	4	1093	c.542C>G	c.(541-543)cCt>cGt	p.P181R	QKI_ENST00000424802.3_Missense_Mutation_p.P181R|QKI_ENST00000392127.2_Missense_Mutation_p.P181R|QKI_ENST00000361195.2_Missense_Mutation_p.P181R|QKI_ENST00000453779.2_Missense_Mutation_p.P181R|QKI_ENST00000275262.7_Missense_Mutation_p.P181R	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	181					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTATTGGTACCTGCAGTAAGT	0.333																																						uc003qui.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(541-543)cCt>cGt		Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.							101	108	106					6																	163956153		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163956153C>G	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.542C>G	6.37:g.163956153C>G	ENSP00000355094:p.Pro181Arg					QKI_uc003quj.3_Missense_Mutation_p.P181R|QKI_uc003quh.3_Missense_Mutation_p.P181R|QKI_uc003que.3_Missense_Mutation_p.P181R|QKI_uc003quf.3_Missense_Mutation_p.P181R|QKI_uc003qug.3_Missense_Mutation_p.P181R	p.P181R	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	1093	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	181					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.542C>G	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631555	0.87660	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.56	5.56	0.83823	.	0.142736	0.64402	D	0.000004	T	0.41880	0.1178	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.992;1.0;0.999;0.999;0.998	D;P;D;P;P;P	0.65684	0.93;0.636;0.937;0.906;0.906;0.897	T	0.37888	-0.9686	10	0.66056	D	0.02	-1.7164	19.533	0.95237	0.0:1.0:0.0:0.0	.	181;181;181;181;181;181	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	R	181;181;181;181;181;181;126;126	ENSP00000408775:P181R;ENSP00000275262:P181R;ENSP00000375973:P181R;ENSP00000355094:P181R;ENSP00000354867:P181R;ENSP00000408382:P181R;ENSP00000440991:P126R;ENSP00000440599:P126R	ENSP00000275262:P181R	P	+	2	0	QKI	163876143	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.423000	0.80229	2.604000	0.88044	0.591000	0.81541	CCT		0.333	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		G	163956153	C	G	163956153	3	3	57	1	0	0	0	0	1	0	0	0	12873	681	24	5	556	5	QKI	6	163956153	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	3715785	163956153	7158914	14	3668											
EGFR	1956	broad.mit.edu	37	chr7	55223531	55223533	+	In_Frame_Del	DEL	GTG	GTG	-																															tctcttccccaggtaattatGtggtgacagatcacggctcg																										TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55223531_55223533delGTG	ENST00000275493.2	+	8	1075_1077	c.898_900delGTG	c.(898-900)gtgdel	p.V301del	EGFR_ENST00000454757.2_In_Frame_Del_p.V248del|EGFR_ENST00000442591.1_In_Frame_Del_p.V301del|EGFR_ENST00000455089.1_In_Frame_Del_p.V256del|EGFR_ENST00000342916.3_In_Frame_Del_p.V301del|EGFR_ENST00000420316.2_In_Frame_Del_p.V301del|EGFR_ENST00000344576.2_In_Frame_Del_p.V301del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	301					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGGTAATTATGTGGTGACAGATC	0.601		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V301V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(898-900)gtgdel		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223531_55223533delGTG		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.898_900delGTG	7.37:g.55223534_55223536delGTG	ENSP00000275493:p.Val301del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_In_Frame_Del_p.V301del|EGFR_uc003tqi.3_In_Frame_Del_p.V301del|EGFR_uc003tqj.3_In_Frame_Del_p.V301del|EGFR_uc022adm.1_In_Frame_Del_p.V301del|EGFR_uc010kzg.2_In_Frame_Del_p.V256del|EGFR_uc022adn.1_In_Frame_Del_p.V256del|EGFR_uc011kco.2_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.V301del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1144_1146	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		301					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.898_900delGTG	CCDS5514.1																																																																																				0.601	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		-	55223533	GTG	-	55223531	7	5	57	1	0	1	0	1	0	0	0	0	4967	1377	48	0	928	0	EGFR	7	55223531	In_Frame_Del	DEL	GTG	TCGA-06-0650-01A-02D-1696-08		55223531	103915132	15	3669											
EGFR	1956	broad.mit.edu	37	chr7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcttgaggatcttgaagGaaactgaattcaaaaagatc	15	11	8	7	0	3	4	1	3	2	1	5	6	3	6	0	2	1	0	0	2	5	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		20	Substitution - Missense(19)|Deletion - Frameshift(1)	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)	lung(15)|upper_aerodigestive_tract(2)|prostate(2)|ovary(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2125-2127)Gaa>Aaa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88	91	90					7																	55241677		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241677G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2125G>A	7.37:g.55241677G>A	ENSP00000275493:p.Glu709Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	p.E709K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2371	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		709		E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2125G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304179	0.95601	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61859	0.07;0.07;0.07	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.71581	2.175	0.80722	D	1	P;P	0.49862	0.929;0.912	B;P	0.46172	0.283;0.506	T	0.70454	-0.4867	10	0.87932	D	0	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	664;709	Q504U8;P00533	.;EGFR_HUMAN	K	664;579;709;656	ENSP00000415559:E664K;ENSP00000275493:E709K;ENSP00000395243:E656K	ENSP00000275493:E709K	E	+	1	0	EGFR	55209171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.833000	0.99426	2.745000	0.94114	0.563000	0.77884	GAA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55241677	G	A	55241677	3	1	57	1	0	0	0	0	1	0	0	0	4967	1175	41	3	2459	3	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	18146	55241677	103896986	16	3670			1	11		2	2	32	G		4.305915e-05
EGFR	1956	broad.mit.edu	37	chr7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaagatcaaagtgctggGctccggtgcgttcggcacgg	10	7	14	10	4	1	1	1	0	0	1	3	1	2	1	1	4	2	4	1	4	3	1	rs121913428		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241708G>A	ENST00000275493.2	+	18	2333	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> C (found in a lung cancer sample; dbSNP:rs28929495). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|G -> D (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		32	Substitution - Missense(31)|Deletion - Frameshift(1)	p.G719A(102)|p.G719S(74)|p.G719C(41)|p.G719?(25)|p.G719D(12)|p.L718P(3)|p.G719fs*29(2)|p.L718L(1)|p.G719V(1)	lung(30)|oesophagus(1)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2155-2157)gGc>gAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68	70	69					7																	55241708		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241708G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2156G>A	7.37:g.55241708G>A	ENSP00000275493:p.Gly719Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.G719D|EGFR_uc010kzg.2_Missense_Mutation_p.G674D|EGFR_uc022adn.1_Missense_Mutation_p.G674D|EGFR_uc011kco.2_Missense_Mutation_p.G666D	p.G719D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2402	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		719		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).	Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2156G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639359	0.67244	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78364	-1.17;-1.17;-1.17	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.92165	0.5739	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	674;719	Q504U8;P00533	.;EGFR_HUMAN	D	674;589;719;666	ENSP00000415559:G674D;ENSP00000275493:G719D;ENSP00000395243:G666D	ENSP00000275493:G719D	G	+	2	0	EGFR	55209202	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55241708	G	A	55241708	3	1	57	1	0	0	0	0	1	0	0	0	4967	1203	42	3	2490	3	EGFR	7	55241708	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	31	55241708	103896955	17	3671			1	11		2	2	32	G		4.305915e-05
MUC17	140453	broad.mit.edu	37	chr7	100678917	100678917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacctgtcagcaccacgcCggtagtcagttctgaggcta	9	10	10	12	2	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	4	5	rs71286278		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:100678917C>T	ENST00000306151.4	+	3	4284	c.4220C>T	c.(4219-4221)cCg>cTg	p.P1407L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1407	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCACGCCGGTAGTCAGT	0.512																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4219-4221)cCg>cTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							274	279	278					7																	100678917		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678917C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4220C>T	7.37:g.100678917C>T	ENSP00000302716:p.Pro1407Leu					MUC17_uc010lho.1_Non-coding_Transcript	p.P1407L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	4273	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1407			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4220C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.556	-0.847423	0.02651	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.838	-1.68	0.08212	.	.	.	.	.	T	0.02610	0.0079	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	9	0.26408	T	0.33	.	4.2	0.10462	0.0:0.5117:0.0:0.4883	.	1407	Q685J3	MUC17_HUMAN	L	1407	ENSP00000302716:P1407L	ENSP00000302716:P1407L	P	+	2	0	MUC17	100465637	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.002000	0.13061	-0.630000	0.05567	-1.368000	0.01194	CCG		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678917	C	T	100678917	3	4	57	1	0	0	0	0	1	0	0	0	9974	652	23	2	4230	2	MUC17	7	100678917	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	45437209	100678917	58459746	18	3672											
KCND2	3751	broad.mit.edu	37	chr7	120386073	120386073	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggagagaacacctctGtctaacaggtacctgagatt	11	11	11	8	0	2	2	0	1	2	2	2	5	2	3	2	2	3	1	2	2	3	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:120386073G>T	ENST00000331113.4	+	5	2672	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	569					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GAACACCTCTGTCTAACAGGT	0.443																																						uc003vjj.1																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1705-1707)ctG>ctT		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.							89	70	76					7																	120386073		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120386073G>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1707G>T	7.37:g.120386073G>T							p.L569L	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			4	2672	+	all_neural(327;0.117)		569					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1707G>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	4.666	0.123843	0.08931	.	.	ENSG00000184408	ENST00000425288	.	.	.	6.06	-12.1	0.00011	.	.	.	.	.	T	0.59595	0.2205	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	T	0.74450	-0.3661	4	.	.	.	.	16.9632	0.86278	0.1149:0.2585:0.6267:0.0	.	.	.	.	F	155	.	.	C	+	2	0	KCND2	120173309	0.001000	0.12720	0.018000	0.16275	0.838000	0.47535	-1.521000	0.02239	-2.414000	0.00569	-2.042000	0.00416	TGT		0.443	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	120386073	G	T	120386073	2	4	57	1	0	0	0	0	0	0	0	1	8019	1364	48	5		5	KCND2	7	120386073	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	19707156	120386073	38752590	19	3673											
TSGA14	95681	broad.mit.edu	37	chr7	130038800	130038800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagtggctggcggggcCgccacctggcagattctgag	5	9	17	10	2	1	3	0	2	1	1	1	3	1	3	3	5	0	3	3	5	0	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:130038800C>T	ENST00000223208.5	-	11	1324	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	CEP41_ENST00000541543.1_Missense_Mutation_p.G264S|CEP41_ENST00000343969.5_Missense_Mutation_p.G280S	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	352					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CTGGCGGGGCCGCCACCTGGC	0.562																																						uc003vpz.3																			0											c.(1054-1056)Ggc>Agc		Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.							101	118	112					7																	130038800		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038800C>T	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1054G>A	7.37:g.130038800C>T	ENSP00000223208:p.Gly352Ser					CEP41_uc003vpy.3_Missense_Mutation_p.G114S|CEP41_uc010lmf.3_Missense_Mutation_p.G149S|CEP41_uc003vqa.3_Missense_Mutation_p.G280S|CEP41_uc011kpg.2_Missense_Mutation_p.G264S	p.G352S	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			10	1101	-			352					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.1054G>A	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808310	0.00606	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.88741	-2.35;-2.09;-2.42	4.97	-3.29	0.05017	.	1.097150	0.06817	N	0.791398	T	0.76779	0.4035	L	0.36672	1.1	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.08055	0.0;0.001;0.003	T	0.60762	-0.7199	10	0.07482	T	0.82	2.0E-4	1.9292	0.03323	0.1319:0.3602:0.1234:0.3845	.	264;280;352	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	S	352;264;280	ENSP00000223208:G352S;ENSP00000445888:G264S;ENSP00000342738:G280S	ENSP00000223208:G352S	G	-	1	0	TSGA14	129826036	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.329000	0.07935	-0.607000	0.05738	-0.150000	0.13652	GGC		0.562	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		T	130038800	C	T	130038800	3	4	57	1	0	0	0	0	1	0	0	0	16617	652	23	2	71	2	TSGA14	7	130038800	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	9652727	130038800	29099863	20	3674											
KCNB2	9312	broad.mit.edu	37	chr8	73848725	73848725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgggccaccatcaccAtgaccactgttggctatggt	7	12	11	11	0	1	1	1	1	0	0	1	1	1	1	4	4	0	2	4	4	1	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr8:73848725A>G	ENST00000523207.1	+	3	1723	c.1135A>G	c.(1135-1137)Atg>Gtg	p.M379V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	379					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CACCATCACCATGACCACTGT	0.448																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1135-1137)Atg>Gtg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							105	105	105					8																	73848725		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848725A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1135A>G	8.37:g.73848725A>G	ENSP00000430846:p.Met379Val						p.M379V	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1723	+	Breast(64;0.137)		379					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1135A>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336619	0.60963	.	.	ENSG00000182674	ENST00000523207	D	0.98807	-5.15	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.56097	D	0.000035	D	0.98880	0.9621	M	0.70275	2.135	0.58432	D	0.999999	D	0.65815	0.995	D	0.68039	0.955	D	0.99860	1.1082	10	0.87932	D	0	.	15.7481	0.77962	1.0:0.0:0.0:0.0	.	379	Q92953	KCNB2_HUMAN	V	379	ENSP00000430846:M379V	ENSP00000430846:M379V	M	+	1	0	KCNB2	74011279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.121000	0.65114	0.533000	0.62120	ATG		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		G	73848725	A	G	73848725	3	3	57	1	0	0	0	0	1	0	0	0	8013	217	8	4	1141	4	KCNB2	8	73848725	Missense_Mutation	SNP	A	TCGA-06-0650-01A-02D-1696-08		73848725	72515297	21	3675											
PTPRD	5789	broad.mit.edu	37	chr9	8485910	8485910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggaacaataagctgCtccatcgggagaagggggat	12	7	14	8	1	1	1	1	0	0	1	3	4	2	3	1	4	4	3	1	4	4	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr9:8485910C>T	ENST00000381196.4	-	25	3450	c.2907G>A	c.(2905-2907)gaG>gaA	p.E969E	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Silent_p.E969E|PTPRD_ENST00000360074.4_Silent_p.E956E|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Silent_p.E947E|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Silent_p.E969E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	969	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAATAAGCTGCTCCATCGGGA	0.468										TSP Lung(15;0.13)																												uc003zkk.3																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2905-2907)gaG>gaA		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							163	155	158					9																	8485910		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8485910C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2907G>A	9.37:g.8485910C>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.E969E	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3650	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	969			Fibronectin type-III 7.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2907G>A	CCDS43786.1																																																																																				0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8485910	C	T	8485910	2	4	57	1	0	0	0	0	0	0	0	1	12799	796	28	3		3	PTPRD	9	8485910	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08		8485910	132727521	22	3676											
MUC2	4583	broad.mit.edu	37	chr11	1096432	1096432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagatcagcccctccGtggacaacttcggagtttac	9	9	12	11	2	1	1	1	0	0	1	3	5	2	4	3	4	3	1	3	4	2	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:1096432G>A	ENST00000441003.2	+	34	6484	c.6457G>A	c.(6457-6459)Gtg>Atg	p.V2153M	MUC2_ENST00000361558.6_Missense_Mutation_p.V291M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4515					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCCCCTCCGTGGACAACTT	0.607																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6445-6447)Gtg>Atg		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						100	112	108					11																	1096432		2163	4254	6417	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1096432G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6457G>A	11.37:g.1096432G>A	ENSP00000415183:p.Val2153Met						p.V2149M	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	35	6472	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4515					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6445G>A		.	.	.	.	.	.	.	.	.	.	g	8.919	0.960501	0.18583	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.59083	0.29;0.29	3.95	-0.68	0.11346	.	.	.	.	.	T	0.42245	0.1194	L	0.52364	1.645	0.09310	N	1	P	0.38767	0.646	B	0.32465	0.146	T	0.26155	-1.0111	9	0.44086	T	0.13	.	4.5767	0.12238	0.23:0.0:0.5111:0.2588	.	2153	E7EUV1	.	M	2153;291	ENSP00000415183:V2153M;ENSP00000354885:V291M	ENSP00000354885:V291M	V	+	1	0	MUC2	1086432	0.001000	0.12720	0.001000	0.08648	0.109000	0.19521	0.059000	0.14322	0.003000	0.14656	0.479000	0.44913	GTG		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1096432	G	A	1096432	3	1	57	1	0	0	0	0	1	0	0	0	9975	1145	40	1	6583	1	MUC2	11	1096432	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		1096432	133910084	23	3677											
PTPRJ	5795	broad.mit.edu	37	chr11	48145364	48145364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaatacaacatcaacccGtatcttctacaatcaaataa	17	11	2	11	1	5	0	3	0	2	0	5	0	5	0	1	0	4	2	1	0	9	6			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:48145364G>A	ENST00000418331.2	+	5	1168	c.816G>A	c.(814-816)ccG>ccA	p.P272P	PTPRJ_ENST00000440289.2_Silent_p.P272P	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	272	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATCAACCCGTATCTTCTAC	0.473																																						uc001ngp.4																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(814-816)ccG>ccA		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							74	70	71					11																	48145364		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145364G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.816G>A	11.37:g.48145364G>A						PTPRJ_uc001ngo.4_Silent_p.P272P	p.P272P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			4	1171	+			272			Fibronectin type-III 2.|Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.816G>A	CCDS7945.1																																																																																				0.473	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48145364	G	A	48145364	2	1	57	1	0	0	0	0	0	0	0	1	12804	1132	40	1		1	PTPRJ	11	48145364	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	47048932	48145364	86861152	24	3678											
SPDYC	387778	broad.mit.edu	37	chr11	64939756	64939756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctacttccagcgcgccCacctgaagctcagcgagtat	8	9	10	14	3	2	1	1	1	1	0	3	2	3	1	3	1	4	2	3	1	3	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:64939756C>A	ENST00000377185.2	+	4	380	c.298C>A	c.(298-300)Cac>Aac	p.H100N	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGCGCGCCCACCTGAAGCT	0.597																																						uc010rnz.2																			0		p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(298-300)Cac>Aac		Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.							87	81	83					11																	64939756		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939756C>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.298C>A	11.37:g.64939756C>A	ENSP00000366390:p.His100Asn						p.H100N	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			3	298	+			100			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.298C>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	2.844	-0.239789	0.05944	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.66	-8.74	0.00838	.	1.156870	0.06768	N	0.782938	T	0.09818	0.0241	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34576	-0.9823	9	0.08381	T	0.77	.	8.8517	0.35203	0.1632:0.6385:0.1983:0.0	.	100	Q5MJ68	SPDYC_HUMAN	N	100	.	ENSP00000366390:H100N	H	+	1	0	SPDYC	64696332	0.004000	0.15560	0.002000	0.10522	0.825000	0.46686	-0.156000	0.10100	-1.605000	0.01593	-0.181000	0.13052	CAC		0.597	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		A	64939756	C	A	64939756	3	1	57	1	0	0	0	0	1	0	0	0	15027	594	21	5	312	5	SPDYC	11	64939756	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	16794392	64939756	70066760	25	3679											
INTS4	92105	broad.mit.edu	37	chr11	77632412	77632412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggaacaagatgagaaaGactgtctcggaggtaggcat	14	6	15	6	1	1	3	0	1	1	3	2	6	1	5	0	5	1	3	0	5	4	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:77632412G>C	ENST00000534064.1	-	14	1772	c.1738C>G	c.(1738-1740)Ctt>Gtt	p.L580V	INTS4_ENST00000525931.1_5'Flank	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	580					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGATGAGAAAGACTGTCTCGG	0.403																																						uc001oys.3																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1738-1740)Ctt>Gtt		Homo sapiens integrator complex subunit 4 (INTS4), mRNA.							111	97	102					11																	77632412		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77632412G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1738C>G	11.37:g.77632412G>C	ENSP00000434466:p.Leu580Val					INTS4_uc001oyt.3_Non-coding_Transcript	p.L580V	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		13	1766	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		580					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1738C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998698	0.54147	.	.	ENSG00000149262	ENST00000534064;ENST00000354849	T	0.70045	-0.45	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.78387	0.4275	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.80448	-0.1378	10	0.62326	D	0.03	-7.9805	17.6231	0.88087	0.0:0.0:1.0:0.0	.	580	Q96HW7	INT4_HUMAN	V	580;431	ENSP00000434466:L580V	ENSP00000346913:L431V	L	-	1	0	INTS4	77310060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.018000	0.76406	2.379000	0.81126	0.585000	0.79938	CTT		0.403	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		C	77632412	G	C	77632412	3	2	57	1	0	0	0	0	1	0	0	0	7780	942	33	5	1193	5	INTS4	11	77632412	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	12692656	77632412	57374104	26	3680											
PARP4	143	broad.mit.edu	37	chr13	25009059	25009059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagcagactgtgcagagCttaatgagctccctgaaaaa	13	8	12	8	0	0	4	0	2	0	2	1	5	1	5	1	1	4	4	1	1	3	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr13:25009059C>T	ENST00000381989.3	-	31	4325	c.4220G>A	c.(4219-4221)aGc>aAc	p.S1407N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1407					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTGTGCAGAGCTTAATGAGCT	0.542																																						uc001upl.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4219-4221)aGc>aAc		Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.							41	43	43					13																	25009059		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25009059C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4220G>A	13.37:g.25009059C>T	ENSP00000371419:p.Ser1407Asn						p.S1407N	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	30	4326	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1407					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.4220G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	0.562	-0.844990	0.02671	.	.	ENSG00000102699	ENST00000381989	T	0.01804	4.63	2.32	-3.34	0.04943	.	3.133270	0.01912	U	0.039934	T	0.01320	0.0043	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.46428	-0.9192	10	0.20046	T	0.44	5.0715	1.9372	0.03339	0.1794:0.2682:0.4138:0.1386	.	1407	Q9UKK3	PARP4_HUMAN	N	1407	ENSP00000371419:S1407N	ENSP00000371419:S1407N	S	-	2	0	PARP4	23907059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.691000	0.05133	-1.201000	0.02659	-0.823000	0.03104	AGC		0.542	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25009059	C	T	25009059	3	4	57	1	0	0	0	0	1	0	0	0	11463	797	28	3	970	3	PARP4	13	25009059	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		25009059	90160819	27	3681											
GABRB3	2562	broad.mit.edu	37	chr15	26792999	26792999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagtgaatggaaacaCgatcctggaccatctgtcta	16	8	9	8	1	2	2	0	1	2	1	3	5	3	4	2	2	1	0	2	2	5	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:26792999C>T	ENST00000311550.5	-	9	1474	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	GABRB3_ENST00000541819.2_Missense_Mutation_p.V511M|GABRB3_ENST00000545868.1_Missense_Mutation_p.V370M|GABRB3_ENST00000299267.4_Missense_Mutation_p.V455M|GABRB3_ENST00000400188.3_Missense_Mutation_p.V384M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	455					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.V455L(2)|p.V511L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATGGAAACACGATCCTGGAC	0.398																																						uc001zbb.3																			3	Substitution - Missense(3)	p.V455L(2)|p.V511L(1)	lung(3)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1531-1533)Gtg>Atg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						124	103	110					15																	26792999		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26792999C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1363G>A	15.37:g.26792999C>T	ENSP00000308725:p.Val455Met					GABRB3_uc021sgg.1_Missense_Mutation_p.V384M|GABRB3_uc021sgh.1_Missense_Mutation_p.V370M|GABRB3_uc001zaz.3_Missense_Mutation_p.V455M|GABRB3_uc001zba.3_Missense_Mutation_p.V455M	p.V511M	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1634	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	455					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1531G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581253	0.46006	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049791	0.85682	D	0.000000	T	0.82181	0.4981	L	0.40543	1.245	0.58432	D	0.999999	P;P;P	0.45672	0.864;0.584;0.497	B;B;B	0.40375	0.294;0.22;0.327	T	0.83129	-0.0114	10	0.52906	T	0.07	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	511;455;455	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	455;511;455;384;370	ENSP00000308725:V455M;ENSP00000442408:V511M;ENSP00000299267:V455M;ENSP00000383049:V384M;ENSP00000439169:V370M	ENSP00000299267:V455M	V	-	1	0	GABRB3	24344092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.861000	0.98227	0.655000	0.94253	GTG		0.398	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26792999	C	T	26792999	3	4	57	1	0	0	0	0	1	0	0	0	6168	536	19	1	62	1	GABRB3	15	26792999	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		26792999	75738393	28	3682											
UNC13C	440279	broad.mit.edu	37	chr15	54305644	54305644	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttaaaactgggagctttaCgaaaactgagaaaatggaaa	18	8	10	5	1	0	1	0	1	0	1	0	5	0	3	0	2	4	2	0	2	8	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:54305644C>T	ENST00000260323.11	+	1	544	c.544C>T	c.(544-546)Cga>Tga	p.R182*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.R182*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R182*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	182					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGCTTTACGAAAACTGAG	0.458																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(544-546)Cga>Tga		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							108	106	107					15																	54305644		1912	4110	6022	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305644C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.544C>T	15.37:g.54305644C>T	ENSP00000260323:p.Arg182*					UNC13C_uc021sms.1_Nonsense_Mutation_p.R182*	p.R182*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	0	544	+			182					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.544C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	37	6.175219	0.97348	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	4.98	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.984	0.58581	0.4508:0.5492:0.0:0.0	.	.	.	.	X	182	.	ENSP00000260323:R182X	R	+	1	2	UNC13C	52092936	0.959000	0.32827	0.984000	0.44739	0.834000	0.47266	1.468000	0.35332	0.074000	0.16767	-0.274000	0.10170	CGA		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54305644	C	T	54305644	4	4	57	1	0	0	0	0	0	1	0	0	16983	528	19	1	546	1	UNC13C	15	54305644	Nonsense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	27512645	54305644	48225748	29	3683											
IRF8	3394	broad.mit.edu	37	chr16	85952286	85952286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggcagggcgtgttcGtcaagcggctgtgccagggc	5	6	18	12	4	1	0	1	0	0	0	2	0	1	0	2	4	3	4	2	4	1	1	rs202107230		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr16:85952286G>A	ENST00000268638.5	+	7	1287	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	IRF8_ENST00000562492.1_Missense_Mutation_p.V85I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	289					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGGCGTGTTCGTCAAGCGGCT	0.677																																						uc002fjh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(865-867)Gtc>Atc		Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.							21	24	23					16																	85952286		2198	4297	6495	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952286G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.865G>A	16.37:g.85952286G>A	ENSP00000268638:p.Val289Ile						p.V289I	NM_002163	NP_002154	Q02556	IRF8_HUMAN			6	922	+		Prostate(104;0.0771)	289					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.865G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039493	0.19669	.	.	ENSG00000140968	ENST00000268638	D	0.93953	-3.32	5.1	2.74	0.32292	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.147655	0.64402	D	0.000016	T	0.80138	0.4568	N	0.05012	-0.13	0.35246	D	0.778226	B	0.11235	0.004	B	0.14023	0.01	T	0.72007	-0.4420	10	0.14252	T	0.57	-34.1676	4.3065	0.10949	0.4742:0.0:0.5258:0.0	.	289	Q02556	IRF8_HUMAN	I	289	ENSP00000268638:V289I	ENSP00000268638:V289I	V	+	1	0	IRF8	84509787	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.857000	0.69525	1.289000	0.44618	-0.142000	0.14014	GTC		0.677	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		A	85952286	G	A	85952286	3	1	57	1	0	0	0	0	1	0	0	0	7836	1145	40	1	887	1	IRF8	16	85952286	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		85952286	4402467	30	3684											
MYH2	4620	broad.mit.edu	37	chr17	10429979	10429979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtatttggtcctccattggGcaacctcggtgttggccttg	4	14	12	11	2	0	0	0	0	0	0	3	0	2	0	4	4	1	3	4	4	2	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:10429979G>C	ENST00000245503.5	-	30	4508	c.4124C>G	c.(4123-4125)gCc>gGc	p.A1375G	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1375G|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1375					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCCATTGGGCAACCTCGGT	0.567																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4123-4125)gCc>gGc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							197	180	186					17																	10429979		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429979G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4124C>G	17.37:g.10429979G>C	ENSP00000245503:p.Ala1375Gly					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1375G|MYH2_uc010coj.3_Intron	p.A1375G	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			29	4252	-			1375					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4124C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202502	0.94997	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.79749	-1.3;-1.3	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.39020	U	0.001488	D	0.89570	0.6753	M	0.86740	2.835	0.80722	D	1	P	0.39071	0.658	P	0.52031	0.688	D	0.90284	0.4317	10	0.62326	D	0.03	.	18.9148	0.92501	0.0:0.0:1.0:0.0	.	1375	Q9UKX2	MYH2_HUMAN	G	1375	ENSP00000245503:A1375G;ENSP00000380367:A1375G	ENSP00000245503:A1375G	A	-	2	0	MYH2	10370704	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.657000	0.98554	2.703000	0.92315	0.655000	0.94253	GCC		0.567	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		C	10429979	G	C	10429979	3	2	57	1	0	0	0	0	1	0	0	0	10035	1203	42	5	1745	5	MYH2	17	10429979	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		10429979	70765231	31	3685											
NPTX1	4884	broad.mit.edu	37	chr17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccacacctggcgtggCgctggacttgagccacatgc	6	7	13	15	3	0	1	0	1	0	0	0	2	0	2	3	3	3	1	3	3	0	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587																																						uc002jyp.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(787-789)Gcc>Acc		Homo sapiens neuronal pentraxin I (NPTX1), mRNA.							201	173	183					17																	78447110		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447110C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.787G>A	17.37:g.78447110C>T	ENSP00000307549:p.Ala263Thr						p.A263T	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	945	-	all_neural(118;0.0538)		263			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.787G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046740	0.55110	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06449	3.3	4.27	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.48986	1.54	0.80722	D	1	P	0.49447	0.924	B	0.41374	0.355	T	0.44847	-0.9301	10	0.17369	T	0.5	-21.6173	11.8502	0.52407	0.0:0.9132:0.0:0.0868	.	263	Q15818	NPTX1_HUMAN	T	263;25	ENSP00000307549:A263T	ENSP00000307549:A263T	A	-	1	0	NPTX1	76061705	1.000000	0.71417	0.671000	0.29857	0.545000	0.35147	5.703000	0.68340	1.001000	0.39076	0.511000	0.50034	GCC		0.587	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			T	78447110	C	T	78447110	3	4	57	1	0	0	0	0	1	0	0	0	10602	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	68017131	78447110	2748100	32	3686											
APC2	10297	broad.mit.edu	37	chr19	1465389	1465389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcaacctgctggccCatcggcccgccaagcaccag	7	4	10	20	3	0	0	0	0	0	0	1	0	0	0	6	2	4	3	6	2	2	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:1465389C>T	ENST00000535453.1	+	14	3802	c.2089C>T	c.(2089-2091)Cat>Tat	p.H697Y	APC2_ENST00000233607.2_Missense_Mutation_p.H697Y|APC2_ENST00000238483.4_Missense_Mutation_p.H423Y|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTGGCCCATCGGCCCGC	0.716																																						uc002lsr.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2089-2091)Cat>Tat		Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.							8	8	8					19																	1465389		2145	4215	6360	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465389C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2089C>T	19.37:g.1465389C>T	ENSP00000442954:p.His697Tyr					APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron	p.H697Y	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2297	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	697					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.2089C>T	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813479	0.50527	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65732	-0.17;0.78;-0.17	4.65	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.053747	0.64402	D	0.000001	T	0.61388	0.2343	L	0.27053	0.805	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.56088	0.791;0.622	T	0.65393	-0.6179	10	0.72032	D	0.01	-31.4827	12.1958	0.54296	0.1713:0.8286:0.0:0.0	.	696;697	O95996-3;O95996	.;APC2_HUMAN	Y	697;423;697	ENSP00000233607:H697Y;ENSP00000238483:H423Y;ENSP00000442954:H697Y	ENSP00000233607:H697Y	H	+	1	0	APC2	1416389	0.981000	0.34729	0.994000	0.49952	0.540000	0.34992	2.596000	0.46205	2.405000	0.81733	0.462000	0.41574	CAT		0.716	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		T	1465389	C	T	1465389	3	4	57	1	0	0	0	0	1	0	0	0	764	594	21	3	2143	3	APC2	19	1465389	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		1465389	57663594	33	3687											
PLIN4	729359	broad.mit.edu	37	chr19	4512541	4512541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcccctttggccacattCgcagcaccggtgaccccact	7	7	9	18	3	0	1	0	1	0	0	1	1	0	1	6	3	1	2	6	3	0	2	rs139885054	byFrequency	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:4512541C>T	ENST00000301286.3	-	3	1388	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	463	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCGCAGCACCGG	0.577													C|||	13	0.00259585	0	0	5008	,	,		22486	0.0129		0	False		,,,				2504	0					uc002mar.1																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1387-1389)gcG>gcA		Homo sapiens perilipin 4 (PLIN4), mRNA.							117	124	122					19																	4512541		1974	4163	6137	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4512541C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1389G>A	19.37:g.4512541C>T						PLIN4_uc010dub.1_5'Flank	p.A463A	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			2	1389	-			463			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1389G>A	CCDS45927.1																																																																																				0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512541	C	T	4512541	2	4	57	1	0	0	0	0	0	0	0	1	12092	871	31	2		2	PLIN4	19	4512541	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08	3047152	4512541	54616442	34	3688											
CD209	30835	broad.mit.edu	37	chr19	7810925	7810925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaggttctggtagatcGcgtcttgcctggattgttcc	4	14	14	9	2	3	1	1	0	2	1	5	2	4	2	2	4	1	3	2	4	1	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:7810925G>A	ENST00000315599.7	-	4	249	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CD209_ENST00000593821.1_Missense_Mutation_p.A32V|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.A52V|CD209_ENST00000601256.1_Missense_Mutation_p.A52V|CD209_ENST00000601951.1_Missense_Mutation_p.A52V|CD209_ENST00000354397.6_Missense_Mutation_p.A76V|CD209_ENST00000593660.1_Missense_Mutation_p.A52V|CD209_ENST00000301357.8_Missense_Mutation_p.A32V|CD209_ENST00000602261.1_Missense_Mutation_p.A76V|CD209_ENST00000394173.4_Missense_Mutation_p.A76V|CD209_ENST00000204801.8_Missense_Mutation_p.A32V	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	76					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGTAGATCGCGTCTTGCCT	0.507																																						uc002mht.2																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(226-228)gCg>gTg		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.							174	172	173					19																	7810925		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810925G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.227C>T	19.37:g.7810925G>A	ENSP00000315477:p.Ala76Val					CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron	p.A76V	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			3	294	-			76					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.227C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	g	0.297	-0.976144	0.02215	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T;T	0.16897	4.08;4.46;4.11;4.1;2.31;4.12	0.734	-1.47	0.08772	.	.	.	.	.	T	0.18087	0.0434	N	0.22421	0.69	0.80722	D	1	B;B;B;D;B;B;B;B;B;B;B	0.63046	0.007;0.021;0.014;0.992;0.301;0.027;0.006;0.007;0.011;0.086;0.026	B;B;B;D;B;B;B;B;B;B;B	0.66716	0.002;0.013;0.008;0.946;0.146;0.008;0.008;0.002;0.008;0.011;0.009	T	0.32455	-0.9906	8	0.30078	T	0.28	.	.	.	.	.	76;76;52;32;32;52;76;76;52;52;76	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	V	76;76;52;32;76;32;60	ENSP00000315477:A76V;ENSP00000346373:A76V;ENSP00000315407:A52V;ENSP00000204801:A32V;ENSP00000377728:A76V;ENSP00000301357:A32V	ENSP00000204801:A32V	A	-	2	0	CD209	7716925	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.828000	0.04419	-1.812000	0.01227	-1.986000	0.00452	GCG		0.507	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		A	7810925	G	A	7810925	3	1	57	1	0	0	0	0	1	0	0	0	2984	1087	38	1	1003	1	CD209	19	7810925	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	3298384	7810925	51318058	35	3689											
FCGBP	8857	broad.mit.edu	37	chr19	40432968	40432968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatttccattacttactcCggccgcaatcagcagctgtt	9	12	7	13	2	1	0	1	0	0	0	3	1	3	0	3	1	4	4	3	1	3	4	rs142198641	byFrequency	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:40432968C>T	ENST00000221347.6	-	2	1308	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	434	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTACTTACTCCGGCCGCAATC	0.587													C|||	2	0.000399361	8e-04	0	5008	,	,		18517	0		0	False		,,,				2504	0.001					uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1300-1302)cGg>cAg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	64	57	60		1301	-7.6	0	19	dbSNP_134	60	0,8600		0,0,4300	yes	missense	FCGBP	NM_003890.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	434/5406	40432968	3,13003	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40432968C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1301G>A	19.37:g.40432968C>T	ENSP00000221347:p.Arg434Gln						p.R434Q	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		1	1309	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		434			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.1301G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.117	1.007911	0.19199	6.81E-4	0.0	ENSG00000090920	ENST00000221347	T	0.18657	2.2	3.85	-7.64	0.01286	.	1.787720	0.03887	N	0.278114	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.31077	0.307	B	0.21151	0.033	T	0.16482	-1.0401	10	0.11182	T	0.66	.	11.4707	0.50266	0.0:0.6149:0.106:0.2791	.	434	Q9Y6R7	FCGBP_HUMAN	Q	434	ENSP00000221347:R434Q	ENSP00000221347:R434Q	R	-	2	0	FCGBP	45124808	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.267000	0.02839	-1.694000	0.01425	-0.982000	0.02568	CGG		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40432968	C	T	40432968	3	4	57	1	0	0	0	0	1	0	0	0	5778	652	23	2	15056	2	FCGBP	19	40432968	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	32622043	40432968	18696015	36	3690											
NLRP5	126206	broad.mit.edu	37	chr19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgtatttgcggaaaattCgggtggatgtcaaagggatc	10	11	14	6	3	1	0	1	0	0	0	4	3	2	3	1	4	1	1	1	4	4	3	rs537471101		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:56539808C>T	ENST00000390649.3	+	7	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		19546	0		0	False		,,,				2504	0					uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2209-2211)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							151	151	151					19																	56539808		2010	4186	6196	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539808C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2209C>T	19.37:g.56539808C>T	ENSP00000375063:p.Arg737Trp					NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	p.R737W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	2209	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	737					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2209C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355347	0.41700	.	.	ENSG00000171487	ENST00000390649	D	0.89681	-2.55	3.26	2.19	0.27852	.	0.000000	0.33438	N	0.004906	D	0.92074	0.7488	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83301	-0.0028	10	0.56958	D	0.05	.	7.7281	0.28771	0.2506:0.7494:0.0:0.0	.	737	P59047	NALP5_HUMAN	W	737	ENSP00000375063:R737W	ENSP00000375063:R737W	R	+	1	2	NLRP5	61231620	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.265000	0.18515	0.903000	0.36546	0.561000	0.74099	CGG		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539808	C	T	56539808	3	4	57	1	0	0	0	0	1	0	0	0	10480	875	31	2	2235	2	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	16106840	56539808	2589175	37	3691											
TSHZ2	128553	broad.mit.edu	37	chr20	51870755	51870755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacaagctcagacccaCgagctattcaaagcccagga	16	4	9	12	1	2	1	2	0	0	1	2	4	2	3	2	2	3	2	2	2	4	2	rs141985599		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr20:51870755C>T	ENST00000371497.5	+	2	1645	c.758C>T	c.(757-759)aCg>aTg	p.T253M	TSHZ2_ENST00000603338.2_Missense_Mutation_p.T250M|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T250M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	253					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGACCCACGAGCTATTCA	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		21048	0		0	False		,,,				2504	0					uc002xwo.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(757-759)aCg>aTg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	65	51	55		749,758	4.6	0.9	20	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	250/1032,253/1035	51870755	3,13003	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870755C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.758C>T	20.37:g.51870755C>T	ENSP00000360552:p.Thr253Met					TSHZ2_uc021wex.1_Missense_Mutation_p.T250M	p.T253M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1645	+			253					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.758C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456697	0.63401	4.54E-4	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14516	2.5;2.5	5.5	4.56	0.56223	.	0.255407	0.45867	D	0.000334	T	0.10208	0.0250	N	0.08118	0	0.54753	D	0.999984	P	0.48016	0.904	P	0.44647	0.456	T	0.18618	-1.0331	10	0.72032	D	0.01	-1.229	14.6139	0.68534	0.0:0.9296:0.0:0.0704	.	253	Q9NRE2	TSH2_HUMAN	M	253;250	ENSP00000360552:T253M;ENSP00000333114:T250M	ENSP00000333114:T250M	T	+	2	0	TSHZ2	51304162	0.941000	0.31946	0.940000	0.37924	0.740000	0.42216	4.625000	0.61262	1.448000	0.47680	0.643000	0.83706	ACG		0.488	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51870755	C	T	51870755	3	4	57	1	0	0	0	0	1	0	0	0	16621	536	19	1	764	1	TSHZ2	20	51870755	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		51870755	11154765	38	3692											
GPR143	4935	broad.mit.edu	37	chrX	9711677	9711677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcctctcgttctccGtgtaaatgccttgtcttcct	4	16	5	16	2	3	0	0	0	3	0	8	0	6	0	6	0	1	2	6	0	2	4	rs137852297		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:9711677G>A	ENST00000467482.1	-	6	841	c.695C>T	c.(694-696)aCg>aTg	p.T232M	GPR143_ENST00000380929.2_Missense_Mutation_p.T252M			P51810	GP143_HUMAN	G protein-coupled receptor 143	232	Necessary for its G protein-activation ability and normal distribution of melanosomes.		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells). {ECO:0000269|PubMed:9529334}.		calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTCGTTCTCCGTGTAAATGCC	0.383																																						uc004cst.2																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	GRCh37	CM981400	GPR143	M	rs137852297	c.(694-696)aCg>aTg		Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.							154	131	139					X																	9711677		2203	4300	6503	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9711677G>A	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.695C>T	X.37:g.9711677G>A	ENSP00000417161:p.Thr232Met						p.T232M	NM_000273	NP_000264	P51810	GP143_HUMAN			5	843	-		Hepatocellular(5;0.000888)	232		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells).	Necessary for its G protein-activation ability and normal distribution of melanosomes.		Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.695C>T	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263348	0.80358	.	.	ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126	D;D;D	0.99329	-5.75;-5.75;-5.75	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98948	1.0793	10	0.72032	D	0.01	-10.3298	16.3904	0.83533	0.0:0.0:1.0:0.0	.	232	P51810	GP143_HUMAN	M	232;252;148	ENSP00000417161:T232M;ENSP00000370316:T252M;ENSP00000406138:T148M	ENSP00000370316:T252M	T	-	2	0	GPR143	9671677	1.000000	0.71417	0.657000	0.29651	0.834000	0.47266	8.316000	0.89985	2.124000	0.65301	0.513000	0.50165	ACG		0.383	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		A	9711677	G	A	9711677	3	1	57	1	0	0	0	0	1	0	0	0	6651	1145	40	1	535	1	GPR143	23	9711677	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		9711677	145558883	39	3693											
WDR13	64743	broad.mit.edu	37	chrX	48463240	48463240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaccccgacagtgacGggcagtgaggacatgtgcgt	8	7	13	13	3	1	2	1	2	1	0	2	4	1	3	3	2	1	1	3	2	0	0	rs144018865		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48463240G>A	ENST00000218056.5	+	9	1783	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	WDR13_ENST00000376729.5_Silent_p.T426T	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	426						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CGACAGTGACGGGCAGTGAGG	0.622																																						uc004dkj.2																			0		p.V425A(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(1276-1278)acG>acA		Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.		G	,	1,3834		0,1,1631,571	51	39	43		1002,1278	-7.3	0.7	X	dbSNP_134	43	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	WDR13	NM_001166426.1,NM_017883.4	,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,	334/394,426/486	48463240	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	64743					cytoplasm|nucleus		g.chrX:48463240G>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1278G>A	X.37:g.48463240G>A						WDR13_uc004dkk.2_Silent_p.T334T|WDR13_uc004dkl.4_Silent_p.T334T	p.T426T	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN			8	1783	+			426					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	c.1278G>A	CCDS14302.1																																																																																				0.622	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			A	48463240	G	A	48463240	2	1	57	1	0	0	0	0	0	0	0	1	17272	1103	39	2		2	WDR13	23	48463240	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	38751563	48463240	106807320	40	3694											
GRIPAP1	56850	broad.mit.edu	37	chrX	48847434	48847434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggcatgggggccaggacGgtgggggccgggccccctgg	5	3	21	12	3	0	0	0	0	0	0	0	1	0	1	4	9	1	1	4	9	1	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48847434G>A	ENST00000376441.1	-	7	580	c.546C>T	c.(544-546)acC>acT	p.T182T	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.T129T|GRIPAP1_ENST00000376425.3_Silent_p.T182T|GRIPAP1_ENST00000376444.3_Silent_p.T137T	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	182						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGGCCAGGACGGTGGGGGCCG	0.607																																						uc004dly.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(544-546)acC>acT		Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.							45	45	45					X																	48847434		2202	4299	6501	SO:0001819	synonymous_variant	56850					early endosome		g.chrX:48847434G>A	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.546C>T	X.37:g.48847434G>A						GRIPAP1_uc004dlz.3_Silent_p.T72T|GRIPAP1_uc004dma.3_Silent_p.T129T	p.T182T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			6	581	-			182					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	c.546C>T	CCDS35248.1																																																																																				0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		A	48847434	G	A	48847434	2	1	57	1	0	0	0	0	0	0	0	1	6789	1103	39	2		2	GRIPAP1	23	48847434	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	384194	48847434	106423126	41	3695											
FMR1NB	158521	broad.mit.edu	37	chrX	147063166	147063166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggatcctgctgttcGtgtgctactacctgtcctac	5	15	8	13	1	0	0	0	0	0	0	3	1	2	1	4	1	5	3	4	1	3	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:147063166G>A	ENST00000370467.3	+	1	318	c.244G>A	c.(244-246)Gtg>Atg	p.V82M		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	82						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGTTCGTGTGCTACTA	0.612																																						uc004fcm.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(244-246)Gtg>Atg		Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.							142	132	136					X																	147063166		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147063166G>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.244G>A	X.37:g.147063166G>A	ENSP00000359498:p.Val82Met						p.V82M	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			0	318	+	Acute lymphoblastic leukemia(192;6.56e-05)		82					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.244G>A	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301653	0.23736	.	.	ENSG00000176988	ENST00000370467	T	0.48836	0.8	1.98	-1.05	0.10036	.	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	P	0.45712	0.491	T	0.10941	-1.0608	9	0.37606	T	0.19	-2.0653	2.9924	0.05987	0.0:0.4005:0.2518:0.3477	.	82	Q8N0W7	FMR1N_HUMAN	M	82	ENSP00000359498:V82M	ENSP00000359498:V82M	V	+	1	0	FMR1NB	146870858	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.096000	0.03353	-0.436000	0.07254	-0.221000	0.12465	GTG		0.612	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		A	147063166	G	A	147063166	3	1	57	1	0	0	0	0	1	0	0	0	5961	1145	40	1	246	1	FMR1NB	23	147063166	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	98215732	147063166	8207394	42	3696											
SRPK3	26576	broad.mit.edu	37	chrX	153049494	153049494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtcaccccgggggcGccagagcaggtccctcccca	6	4	13	18	2	1	1	1	0	0	1	3	1	3	1	6	4	1	2	6	4	0	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:153049494G>A	ENST00000370101.3	+	10	1019	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SRPK3_ENST00000489426.1_Missense_Mutation_p.A392T|SRPK3_ENST00000393786.3_Intron|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370104.1_Missense_Mutation_p.A324T|SRPK3_ENST00000370108.3_Intron	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGGGGGCGCCAGAGCAGG	0.697																																					Esophageal Squamous(167;766 3400 32156)	uc004fik.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1171-1173)Gcc>Acc		Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.							17	20	19					X																	153049494		2192	4289	6481	SO:0001583	missense	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049494G>A	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.973G>A	X.37:g.153049494G>A	ENSP00000359119:p.Ala325Thr					SRPK3_uc004fim.3_Intron|SRPK3_uc004fil.3_Missense_Mutation_p.A325T|SRPK3_uc004fin.3_Missense_Mutation_p.A324T|SRPK3_uc010nul.3_Intron	p.A391T	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			15	3596	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		325			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	c.1171G>A	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	G	4.071	0.010927	0.07912	.	.	ENSG00000184343	ENST00000489426;ENST00000370104;ENST00000370101	T;T;T	0.54675	0.56;0.57;0.57	4.52	-1.84	0.07809	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.263920	0.05604	N	0.576850	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.11941	-1.0567	10	0.13470	T	0.59	-9.5281	5.1664	0.15088	0.5196:0.1569:0.3235:0.0	.	324;325;392	Q9UPE1-4;Q9UPE1;E7ETV6	.;SRPK3_HUMAN;.	T	392;324;325	ENSP00000420058:A392T;ENSP00000359122:A324T;ENSP00000359119:A325T	ENSP00000359119:A325T	A	+	1	0	SRPK3	152702688	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.096000	0.11059	-0.927000	0.03766	-0.295000	0.09555	GCC		0.697	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		A	153049494	G	A	153049494	3	1	57	1	0	0	0	0	1	0	0	0	15160	1087	38	1	1011	1	SRPK3	23	153049494	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	5986328	153049494	2221066	43	3697											
KIAA1751	85452	broad.mit.edu	37	chr1	1896365	1896365	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttgctgttgaaggggcGtccttggaactcacgccccc	5	10	13	13	3	1	1	1	1	0	0	2	2	2	2	3	4	2	3	3	4	2	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:1896365G>A								TMEM52 (45653 upstream) : C1orf222 (23197 downstream)																							TTGAAGGGGCGTCCTTGGAAC	0.662																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1537-1539)Cgc>Tgc		Homo sapiens KIAA1751 (KIAA1751), mRNA.							41	48	46					1																	1896365		2084	4208	6292	SO:0001628	intergenic_variant	85452							g.chr1:1896365G>A																													1.37:g.1896365G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	p.R513C	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	12	1693	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	513						Missense_Mutation	SNP		37	c.1537C>T		.	.	.	.	.	.	.	.	.	.	g	10.38	1.335260	0.24253	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	-2.13	0.07144	.	1.034790	0.07624	N	0.927548	T	0.42381	0.1200	L	0.28344	0.845	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.14023	0.01;0.001	T	0.11743	-1.0575	9	0.45353	T	0.12	-2.5908	9.6237	0.39737	0.7244:0.0:0.2756:0.0	.	513;513	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	C	513	.	ENSP00000270720:R513C	R	-	1	0	C1orf222	1886225	0.001000	0.12720	0.080000	0.20451	0.490000	0.33462	-0.187000	0.09656	-0.463000	0.06973	0.556000	0.70494	CGC	0	0.662									A	1896365	G	A	1896365	1	1	58	0	1	0	0	0	0	0	0	0	8256	1145	40	1		1	KIAA1751	1	1896365	IGR	SNP	G	TCGA-06-0686-01A-01W-0348-08		1896365	247354256	1	3698											
RBMXL1	494115	broad.mit.edu	37	chr1	89448410	89448410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttggtgctccgcggCttgaactgctgtaggaatca	7	11	11	12	2	2	1	1	1	1	0	3	2	3	2	2	3	3	4	2	3	3	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:89448410C>T	ENST00000321792.5	-	2	1527	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.S367N|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	367	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGCTCCGCGGCTTGAACTGCT	0.517																																						uc021opo.1																			0											c.(1099-1101)aGc>aAc		Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.							99	103	101					1																	89448410		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448410C>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1100G>A	1.37:g.89448410C>T	ENSP00000318415:p.Ser367Asn					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S367N|RBMXL1_uc001dms.3_Missense_Mutation_p.S367N	p.S367N	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN			0	1100	-			367			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.1100G>A	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570017	0.45798	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.79554	-1.28;-1.28	1.58	1.58	0.23477	.	0.046417	0.85682	U	0.000000	T	0.74566	0.3733	M	0.62723	1.935	0.34099	D	0.661682	P	0.51653	0.947	P	0.53490	0.727	T	0.72972	-0.4129	10	0.46703	T	0.11	-5.2319	8.7355	0.34525	0.0:1.0:0.0:0.0	.	367	Q96E39	RBMXL_HUMAN	N	367	ENSP00000318415:S367N;ENSP00000446099:S367N	ENSP00000318415:S367N	S	-	2	0	RBMXL1	89220998	1.000000	0.71417	0.736000	0.30914	0.904000	0.53231	4.995000	0.63908	0.878000	0.35920	0.306000	0.20318	AGC		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		T	89448410	C	T	89448410	3	4	58	1	0	0	0	0	1	0	0	0	13153	797	28	3	76	3	RBMXL1	1	89448410	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	87552045	89448410	159802211	2	3699											
GFI1	2672	broad.mit.edu	37	chr1	92946526	92946526	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggccccacacggtcGgtagctctgcaccaggtgcc	6	6	12	17	2	1	0	0	0	1	0	3	0	2	0	5	4	3	3	5	4	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:92946526G>A	ENST00000370332.1	-	4	736	c.418C>T	c.(418-420)Cga>Tga	p.R140*	GFI1_ENST00000427103.1_Nonsense_Mutation_p.R140*|GFI1_ENST00000294702.5_Nonsense_Mutation_p.R140*|GFI1_ENST00000483490.1_5'Flank	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	140	Required for interaction with RELA.				auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCACACGGTCGGTAGCTCTGC	0.716																																						uc001dou.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(418-420)Cga>Tga		Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.							12	14	13					1																	92946526		2199	4298	6497	SO:0001587	stop_gained	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92946526G>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.418C>T	1.37:g.92946526G>A	ENSP00000359357:p.Arg140*					GFI1_uc001dov.4_Nonsense_Mutation_p.R140*|GFI1_uc001dow.4_Nonsense_Mutation_p.R140*	p.R140*	NM_001127215	NP_005254	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	3	582	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	140					Q8N564	Nonsense_Mutation	SNP	ENST00000370332.1	37	c.418C>T	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	g	37	6.363076	0.97507	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	.	.	.	4.07	1.02	0.19986	.	0.508000	0.20832	N	0.084869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3847	14.5963	0.68410	0.0:0.0:0.4194:0.5806	.	.	.	.	X	140	.	ENSP00000294702:R140X	R	-	1	2	GFI1	92719114	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	1.634000	0.37123	0.108000	0.17862	0.457000	0.33378	CGA		0.716	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		A	92946526	G	A	92946526	4	1	58	1	0	0	0	0	0	1	0	0	6339	1124	39	2	866	2	GFI1	1	92946526	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	3498116	92946526	156304095	3	3700											
DENND2C	163259	broad.mit.edu	37	chr1	115165651	115165651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgggtggtagcttccatGctgaaggggatctccacata	9	10	13	9	1	1	1	0	1	1	0	3	2	2	2	2	4	3	3	2	4	4	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:115165651G>T	ENST00000393274.1	-	6	1638	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	DENND2C_ENST00000393276.3_Missense_Mutation_p.A338E|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.A338E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	338					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCTTCCATGCTGAAGGGGA	0.343																																						uc001efd.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1012-1014)gCa>gAa		Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.							140	152	148					1																	115165651		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115165651G>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1013C>A	1.37:g.115165651G>T	ENSP00000376955:p.Ala338Glu					DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	p.A338E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1715	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	338					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1013C>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841702	0.32513	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.09073	3.58;3.67;3.02	5.53	4.61	0.57282	.	0.461649	0.22527	N	0.058883	T	0.03348	0.0097	L	0.40543	1.245	0.28624	N	0.908024	B;B	0.33413	0.411;0.397	B;B	0.36335	0.111;0.222	T	0.37596	-0.9699	10	0.25106	T	0.35	.	11.4685	0.50254	0.1346:0.0:0.8654:0.0	.	338;338	Q68D51;Q68D51-3	DEN2C_HUMAN;.	E	338	ENSP00000376957:A338E;ENSP00000376955:A338E;ENSP00000376958:A338E	ENSP00000358553:A338E	A	-	2	0	DENND2C	114967174	0.948000	0.32251	1.000000	0.80357	0.893000	0.52053	3.921000	0.56454	2.763000	0.94921	0.563000	0.77884	GCA		0.343	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		T	115165651	G	T	115165651	3	4	58	1	0	0	0	0	1	0	0	0	4430	1319	46	5	1662	5	DENND2C	1	115165651	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	22219125	115165651	134084970	4	3701											
HHIPL2	79802	broad.mit.edu	37	chr1	222717477	222717477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcccgggagattccggaGaggcgtctgggtgttttcgg	5	9	19	8	4	1	2	0	0	1	2	3	5	2	2	2	6	0	1	2	6	0	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:222717477G>C	ENST00000343410.6	-	2	434	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	126					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGATTCCGGAGAGGCGTCTGG	0.587																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(376-378)Ctc>Gtc		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							87	100	96					1																	222717477		1952	4142	6094	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717477G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.376C>G	1.37:g.222717477G>C	ENSP00000342118:p.Leu126Val						p.L126V	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	434	-			126					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.376C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	6.553	0.470360	0.12461	.	.	ENSG00000143512	ENST00000343410	T	0.43294	0.95	5.59	5.59	0.84812	Folate receptor-like (1);	0.066084	0.64402	D	0.000013	T	0.38746	0.1052	L	0.45422	1.42	0.39239	D	0.963829	B	0.14438	0.01	B	0.18263	0.021	T	0.22208	-1.0223	10	0.18710	T	0.47	-32.3962	19.1777	0.93609	0.0:0.0:1.0:0.0	.	126	Q6UWX4	HIPL2_HUMAN	V	126	ENSP00000342118:L126V	ENSP00000342118:L126V	L	-	1	0	HHIPL2	220784100	0.993000	0.37304	0.931000	0.37212	0.002000	0.02628	2.418000	0.44662	2.606000	0.88127	0.591000	0.81541	CTC		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		C	222717477	G	C	222717477	3	2	58	1	0	0	0	0	1	0	0	0	7094	942	33	5	1830	5	HHIPL2	1	222717477	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	107551826	222717477	26533144	5	3702											
SNAP47	116841	broad.mit.edu	37	chr1	227935725	227935725	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttcagcatcatcgagcaTttctggagggagctgctgct	7	12	12	10	1	4	0	2	0	2	0	5	3	4	2	0	2	5	5	0	2	0	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:227935725T>A	ENST00000366759.4	+	2	837	c.423T>A	c.(421-423)caT>caA	p.H141Q	SNAP47_ENST00000315781.5_Missense_Mutation_p.H141Q|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	141					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCATCGAGCATTTCTGGAGGG	0.597																																						uc001hrf.2																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(421-423)caT>caA		Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.							70	64	66					1																	227935725		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935725T>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.423T>A	1.37:g.227935725T>A	ENSP00000355721:p.His141Gln					SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.H141Q|SNAP47_uc001hre.3_Intron	p.H141Q	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			1	837	+			141					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.423T>A	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.18|17.18	3.324955|3.324955	0.60634|0.60634	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000426344|ENST00000366759;ENST00000315781	.|T;T	.|0.43294	.|0.95;0.95	4.35|4.35	-1.91|-1.91	0.07641|0.07641	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58991|0.58991	0.2161|0.2161	M|M	0.80616|0.80616	2.505|2.505	0.46701|0.46701	D|D	0.999168|0.999168	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.58572|0.58572	-0.7613|-0.7613	5|10	.|0.87932	.|D	.|0	-7.558|-7.558	9.001|9.001	0.36081|0.36081	0.0:0.4344:0.0:0.5656|0.0:0.4344:0.0:0.5656	.|.	.|141;141	.|Q5SQN1;Q5SQN1-2	.|SNP47_HUMAN;.	I|Q	133|141	.|ENSP00000355721:H141Q;ENSP00000314157:H141Q	.|ENSP00000314157:H141Q	F|H	+|+	1|3	0|2	SNAP47|SNAP47	226002348|226002348	0.985000|0.985000	0.35326|0.35326	0.986000|0.986000	0.45419|0.45419	0.605000|0.605000	0.37080|0.37080	0.135000|0.135000	0.15952|0.15952	-0.547000|-0.547000	0.06207|0.06207	-0.462000|-0.462000	0.05337|0.05337	TTT|CAT		0.597	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		A	227935725	T	A	227935725	3	1	58	1	0	0	0	0	1	0	0	0	14832	1490	52	5	429	5	SNAP47	1	227935725	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	5218248	227935725	21314896	6	3703											
OR6F1	343169	broad.mit.edu	37	chr1	247875632	247875632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagcccagggccagctgCgctgagagcaggctactcat	9	5	14	13	1	1	1	1	1	0	1	1	3	1	2	2	3	5	4	2	3	1	1	rs373540517		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:247875632C>T	ENST00000302084.2	-	1	473	c.426G>A	c.(424-426)gcG>gcA	p.A142A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGCCAGCTGCGCTGAGAGCA	0.597																																						uc001idj.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(424-426)gcG>gcA		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.		C		0,4406		0,0,2203	66	70	69		426	-8	0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6F1	NM_001005286.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		142/309	247875632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875632C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.426G>A	1.37:g.247875632C>T							p.A142A	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	426	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		142					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.426G>A	CCDS31095.1																																																																																				0.597	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		T	247875632	C	T	247875632	2	4	58	1	0	0	0	0	0	0	0	1	11201	755	27	1		1	OR6F1	1	247875632	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	19939907	247875632	1374989	7	3704											
ALLC	55821	broad.mit.edu	37	chr2	3727521	3727521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggggcttcgacgtggacGtttcttacttcacgggagat	6	12	13	10	5	2	1	1	0	1	1	4	4	3	2	1	4	1	2	1	4	1	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:3727521G>A	ENST00000252505.3	+	5	397	c.235G>A	c.(235-237)Gtt>Att	p.V79I		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	98					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGACGTGGACGTTTCTTACTT	0.532										HNSCC(21;0.051)																												uc010ewt.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(235-237)Gtt>Att		Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.							146	153	151					2																	3727521		2092	4216	6308	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727521G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.235G>A	2.37:g.3727521G>A	ENSP00000252505:p.Val79Ile	HNSCC(21;0.051)					p.V79I	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	4	396	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	98					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.235G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777969	0.31502	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	-1.67	0.08238	Allantoicase domain (1);Galactose-binding domain-like (1);	0.362385	0.33401	N	0.004944	T	0.10809	0.0264	N	0.01576	-0.805	0.09310	N	0.999996	B	0.12630	0.006	B	0.09377	0.004	T	0.16217	-1.0410	9	0.54805	T	0.06	-26.0322	5.3371	0.15963	0.5051:0.2529:0.2419:0.0	.	98	Q8N6M5	ALLC_HUMAN	I	79	.	ENSP00000252505:V79I	V	+	1	0	ALLC	3705396	0.998000	0.40836	0.065000	0.19835	0.573000	0.36030	1.650000	0.37292	-0.418000	0.07450	-0.844000	0.03045	GTT		0.532	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			A	3727521	G	A	3727521	3	1	58	1	0	0	0	0	1	0	0	0	534	1145	40	1	249	1	ALLC	2	3727521	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		3727521	239471852	8	3705											
TGFA	7039	broad.mit.edu	37	chr2	70680446	70680446	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccactcacagtgttttcGgacctggcagcagctgcaaa	10	8	10	13	1	1	0	1	0	0	0	2	1	1	1	2	2	3	6	2	2	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:70680446G>A	ENST00000295400.6	-	5	626	c.379C>T	c.(379-381)Cga>Tga	p.R127*	TGFA_ENST00000418333.2_Nonsense_Mutation_p.R126*|TGFA_ENST00000445399.1_Nonsense_Mutation_p.R126*|TGFA_ENST00000444975.1_Nonsense_Mutation_p.R133*|TGFA_ENST00000450929.1_Nonsense_Mutation_p.R132*|AC017084.1_ENST00000401177.2_RNA	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	127					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CAGTGTTTTCGGACCTGGCAG	0.632																																						uc002sgs.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(379-381)Cga>Tga		Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.							57	65	63					2																	70680446		2203	4300	6503	SO:0001587	stop_gained	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70680446G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.379C>T	2.37:g.70680446G>A	ENSP00000295400:p.Arg127*					TGFA_uc010fdq.3_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.3_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.4_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.3_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.3_Nonsense_Mutation_p.R126*|Mir_548_uc021vjb.1_5'Flank	p.R127*	NM_003236	NP_003227	P01135	TGFA_HUMAN			4	627	-			127					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Nonsense_Mutation	SNP	ENST00000295400.6	37	c.379C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031177	0.93575	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975	.	.	.	5.87	4.89	0.63831	.	0.315058	0.27371	N	0.019665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2039	0.48758	0.0:0.0:0.7116:0.2884	.	.	.	.	X	127;126;126;132;133	.	ENSP00000295400:R127X	R	-	1	2	TGFA	70533954	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.620000	0.36976	2.941000	0.99782	0.655000	0.94253	CGA		0.632	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			A	70680446	G	A	70680446	4	1	58	1	0	0	0	0	0	1	0	0	15812	1124	39	2	111	2	TGFA	2	70680446	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	66952925	70680446	172518927	9	3706											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660583	125660583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccatgccactgtcgcGcctgtgactgtccatgggac	5	9	12	15	3	0	1	0	1	0	0	2	2	1	2	4	1	2	0	4	1	0	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:125660583G>A	ENST00000431078.1	+	22	3922	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1186	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTGTCGCGCCTGTGACTG	0.537																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3559-3561)gcG>gcA		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							62	63	63					2																	125660583		2133	4257	6390	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660583G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3558G>A	2.37:g.125660583G>A						CNTNAP5_uc002tno.3_Silent_p.A1186A	p.A1187A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	21	3925	+			1186			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3561G>A	CCDS46401.1																																																																																				0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125660583	G	A	125660583	2	1	58	1	0	0	0	0	0	0	0	1	3650	1074	38	1		1	CNTNAP5	2	125660583	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	54980137	125660583	117538790	10	3707											
TTN	7273	broad.mit.edu	37	chr2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttggccttcagccaccGtccattaggaaggtctctct	8	11	10	12	1	3	0	1	0	2	0	5	2	4	1	4	3	1	1	4	3	3	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179438951G>A	ENST00000591111.1	-	276	67209	c.66985C>T	c.(66985-66987)Cgg>Tgg	p.R22329W	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15097W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23970W|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14905W|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21402W|TTN_ENST00000359218.5_Missense_Mutation_p.R15030W			Q8WZ42	TITIN_HUMAN	titin	22329	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413																																						uc021vsy.1																			0		p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64204-64206)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							64	61	62					2																	179438951		1887	4113	6000	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438951G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66985C>T	2.37:g.179438951G>A	ENSP00000465570:p.Arg22329Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	p.R21402W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	64429	-			22329			Fibronectin type-III 55.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64204C>T		.	.	.	.	.	.	.	.	.	.	G	10.41	1.343879	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.66	1.67	0.24075	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77698	0.4169	M	0.92507	3.315	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82699	-0.0328	9	0.87932	D	0	.	15.5028	0.75713	0.0:0.0:0.5284:0.4716	.	14905;15030;15097;22329	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	21402;14905;15097;15030;14903	ENSP00000343764:R21402W;ENSP00000434586:R14905W;ENSP00000340554:R15097W;ENSP00000352154:R15030W	ENSP00000340554:R15097W	R	-	1	2	TTN	179147197	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	5.712000	0.68407	0.025000	0.15241	-0.320000	0.08662	CGG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179438951	G	A	179438951	3	1	58	1	0	0	0	0	1	0	0	0	16732	1144	40	1	36219	1	TTN	2	179438951	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	53778368	179438951	63760422	11	3708											
TTN	7273	broad.mit.edu	37	chr2	179569359	179569359	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccatcaatgcttatttcaAatttatcactgggttccagt	11	15	5	10	0	3	0	3	0	0	0	4	0	4	0	2	1	1	2	2	1	4	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179569359A>C	ENST00000591111.1	-	103	29113	c.28889T>G	c.(28888-28890)tTt>tGt	p.F9630C	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F9947C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F8703C|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13706					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTATTTCAAATTTATCACT	0.368																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26107-26109)tTt>tGt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							83	74	77					2																	179569359		1844	4092	5936	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569359A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28889T>G	2.37:g.179569359A>C	ENSP00000465570:p.Phe9630Cys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	p.F8703C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		101	26333	-			9630			Ig-like 70.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.26108T>G		.	.	.	.	.	.	.	.	.	.	a	11.95	1.792279	0.31685	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	5.67	-0.15	0.13416	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65523	0.2699	L	0.48362	1.52	0.80722	D	1	P	0.48764	0.915	P	0.49752	0.621	T	0.68074	-0.5505	9	0.87932	D	0	.	12.7468	0.57285	0.2268:0.0:0.0:0.7732	.	9630	Q8WZ42	TITIN_HUMAN	C	8703	ENSP00000343764:F8703C	ENSP00000343764:F8703C	F	-	2	0	TTN	179277604	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	3.130000	0.50508	0.059000	0.16252	-0.257000	0.10917	TTT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179569359	A	C	179569359	3	2	58	1	0	0	0	0	1	0	0	0	16732	14	1	5	74721	5	TTN	2	179569359	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	130408	179569359	63630014	12	3709											
ALPPL2	251	broad.mit.edu	37	chr2	233272379	233272379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcggggtcaagggcaacTtccagaccattggcttgagt	8	10	14	9	1	1	2	1	1	0	1	2	2	2	2	2	4	2	2	2	4	2	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:233272379T>C	ENST00000295453.3	+	4	428	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	126					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAAGGGCAACTTCCAGACCAT	0.582																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(376-378)Ttc>Ctc		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						56	49	52					2																	233272379		2203	4296	6499	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272379T>C	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.376T>C	2.37:g.233272379T>C	ENSP00000295453:p.Phe126Leu						p.F126L	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	429	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	126					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.376T>C	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	t	0.840	-0.742189	0.03088	.	.	ENSG00000163286	ENST00000295453	D	0.95518	-3.73	2.71	1.45	0.22620	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.415167	0.26514	N	0.023957	D	0.87095	0.6092	N	0.14661	0.345	0.24148	N	0.995703	B	0.13594	0.008	B	0.19148	0.024	T	0.73196	-0.4059	10	0.13470	T	0.59	.	7.8757	0.29592	0.1854:0.0:0.0:0.8145	.	126	P10696	PPBN_HUMAN	L	126	ENSP00000295453:F126L	ENSP00000295453:F126L	F	+	1	0	ALPPL2	232980623	0.000000	0.05858	0.070000	0.20053	0.126000	0.20510	-0.152000	0.10159	0.232000	0.21100	0.172000	0.16884	TTC		0.582	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		C	233272379	T	C	233272379	3	2	58	1	0	0	0	0	1	0	0	0	549	1609	56	4	390	4	ALPPL2	2	233272379	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	53703020	233272379	9926994	13	3710											
CRELD1	78987	broad.mit.edu	37	chr3	9982660	9982660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggcctgtggccagtgtgGccttggctactttgaggcag	5	11	16	9	0	0	2	0	2	0	0	0	2	0	2	3	5	1	2	3	5	1	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:9982660G>A	ENST00000383811.3	+	5	1186	c.587G>A	c.(586-588)gGc>gAc	p.G196D	CRELD1_ENST00000452070.1_Missense_Mutation_p.G196D|CRELD1_ENST00000326434.5_Missense_Mutation_p.G196D|CRELD1_ENST00000397170.3_Missense_Mutation_p.G196D	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	196					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGCCAGTGTGGCCTTGGCTAC	0.642																																						uc003buf.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(586-588)gGc>gAc		Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.							65	66	66					3																	9982660		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982660G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.587G>A	3.37:g.9982660G>A	ENSP00000373322:p.Gly196Asp					CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G196D|CRELD1_uc003bug.3_Missense_Mutation_p.G196D	p.G196D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN			5	686	+			196					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.587G>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989785	0.54041	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.33	5.33	0.75918	EGF-like, laminin (1);Growth factor, receptor (1);	0.186419	0.44483	D	0.000441	D	0.85270	0.5658	N	0.12746	0.255	0.39651	D	0.970468	D;D	0.76494	0.999;0.992	D;P	0.66716	0.946;0.74	D	0.84618	0.0682	9	.	.	.	.	12.2813	0.54765	0.0:0.1709:0.829:0.0	.	196;196	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	196	ENSP00000380355:G196D;ENSP00000373322:G196D;ENSP00000393643:G196D;ENSP00000321856:G196D	.	G	+	2	0	CRELD1	9957660	0.998000	0.40836	0.981000	0.43875	0.980000	0.70556	2.665000	0.46791	2.497000	0.84241	0.561000	0.74099	GGC		0.642	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		A	9982660	G	A	9982660	3	1	58	1	0	0	0	0	1	0	0	0	3866	1203	42	3	605	3	CRELD1	3	9982660	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		9982660	188039770	14	3711											
PLS1	5357	broad.mit.edu	37	chr3	142383125	142383125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggaggagcttgaagaaCtacaagaggcatttaataaa	16	8	11	6	1	0	3	0	1	0	2	1	5	0	5	0	3	3	2	0	3	7	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:142383125C>G	ENST00000337777.3	+	2	259	c.46C>G	c.(46-48)Cta>Gta	p.L16V	PLS1_ENST00000457734.2_Missense_Mutation_p.L16V|PLS1_ENST00000497002.1_Missense_Mutation_p.L16V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	16	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCTTGAAGAACTACAAGAGGC	0.333																																						uc010huv.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(46-48)Cta>Gta		Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.							81	84	83					3																	142383125		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142383125C>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.46C>G	3.37:g.142383125C>G	ENSP00000336831:p.Leu16Val					PLS1_uc003euz.3_Missense_Mutation_p.L16V|PLS1_uc003eva.3_Missense_Mutation_p.L16V	p.L16V	NM_001145319	NP_002661	Q14651	PLSI_HUMAN			1	205	+			16			EF-hand 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.46C>G	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194928	0.58017	.	.	ENSG00000120756	ENST00000457734;ENST00000483373;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T;T	0.77877	-1.13;2.58;-1.13;-0.29;-0.29;-1.13;-1.13;-0.29;-1.13	5.44	3.67	0.42095	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.85099	2.735	0.58432	D	0.999996	D	0.69078	0.997	D	0.85130	0.997	D	0.87829	0.2643	10	0.87932	D	0	-7.287	10.3699	0.44046	0.0:0.789:0.0:0.211	.	16	Q14651	PLSI_HUMAN	V	16	ENSP00000387890:L16V;ENSP00000419893:L16V;ENSP00000417311:L16V;ENSP00000419531:L16V;ENSP00000419271:L16V;ENSP00000418880:L16V;ENSP00000336831:L16V;ENSP00000417491:L16V;ENSP00000418700:L16V	ENSP00000336831:L16V	L	+	1	2	PLS1	143865815	0.987000	0.35691	0.778000	0.31720	0.974000	0.67602	2.566000	0.45948	0.827000	0.34685	-0.232000	0.12228	CTA		0.333	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		G	142383125	C	G	142383125	3	3	58	1	0	0	0	0	1	0	0	0	12107	564	20	5	48	5	PLS1	3	142383125	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	132400465	142383125	55639305	15	3712											
GHSR	2693	broad.mit.edu	37	chr3	172165997	172165997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagctcgcggaagcgCgacaccaccagcatggtgag	9	4	15	13	5	0	1	0	1	0	0	1	3	0	2	2	2	4	3	2	2	1	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:172165997C>T	ENST00000241256.2	-	1	249	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_ENST00000427970.1_Silent_p.S69S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	69					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.S69S(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			2	Substitution - coding silent(2)	p.S69S(3)|p.S69T(1)	lung(2)	biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(205-207)tcG>tcA		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							69	59	62					3																	172165997		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165997C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.207G>A	3.37:g.172165997C>T						GHSR_uc011bpv.2_Silent_p.S69S	p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	250	-	Ovarian(172;0.00143)|Breast(254;0.197)		69					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.207G>A	CCDS3218.1																																																																																				0.657	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165997	C	T	172165997	2	4	58	1	0	0	0	0	0	0	0	1	6375	755	27	1		1	GHSR	3	172165997	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	29782872	172165997	25856433	16	3713											
FRYL	285527	broad.mit.edu	37	chr4	48503638	48503638	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaatacaactgaatatttAcctctgcttcattttttatc	11	18	2	10	0	2	1	1	1	1	0	3	1	2	1	2	0	4	1	2	0	7	9			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48503638A>C	ENST00000503238.1	-	59	8592		c.e59+1		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAATATTTACCTCTGCTTC	0.294																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e62+1		Homo sapiens FRY-like (FRYL), mRNA.							171	158	162					4																	48503638		1804	4071	5875	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503638A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8592+1T>G	4.37:g.48503638A>C						FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	p.E2864_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			62	9197	-			2864					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.8592_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319553	0.81469	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8152	0.78595	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48198395	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.629000	0.90983	2.196000	0.70406	0.397000	0.26171	.		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	C	48503638	A	C	48503638	5	2	58	1	0	0	0	0	0	0	1	0	6064	405	14	5	459	5	FRYL	4	48503638	Splice_Site	SNP	A	TCGA-06-0686-01A-01W-0348-08		48503638	142650638	17	3714											
FRYL	285527	broad.mit.edu	37	chr4	48537846	48537846	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttcttctgcacaaaccTagaaaacaaataaaattatt	18	14	2	7	0	2	1	0	0	2	1	2	1	2	1	1	0	3	1	1	0	8	7			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48537846T>C	ENST00000503238.1	-	45	6393		c.e45-2		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCACAAACCTAGAAAACAAA	0.318																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e48-1		Homo sapiens FRY-like (FRYL), mRNA.							73	71	72					4																	48537846		1846	4096	5942	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48537846T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6394-2A>G	4.37:g.48537846T>C						FRYL_uc003gyg.1_Splice_Site_p.V828_splice|FRYL_uc003gyi.1_Splice_Site_p.V1020_splice|FRYL_uc003gyj.1_Splice_Site_p.V427_splice	p.V2132_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			48	6999	-			2132					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.6394_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157659	0.57368	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48232603	1.000000	0.71417	0.830000	0.32933	0.666000	0.39218	5.461000	0.66699	2.288000	0.76882	0.482000	0.46254	.		0.318	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	C	48537846	T	C	48537846	5	2	58	1	0	0	0	0	0	0	1	0	6064	1536	53	4	2717	4	FRYL	4	48537846	Splice_Site	SNP	T	TCGA-06-0686-01A-01W-0348-08	34208	48537846	142616430	18	3715											
NPY5R	4889	broad.mit.edu	37	chr4	164272650	164272650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaagttggtgtattgcAtttgtcatttgttgggcatg	7	19	11	4	0	2	0	2	0	0	0	2	0	2	0	0	2	1	5	0	2	2	7			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:164272650A>G	ENST00000515560.1	+	4	2747	c.1225A>G	c.(1225-1227)Att>Gtt	p.I409V	NPY5R_ENST00000338566.3_Missense_Mutation_p.I409V|NPY5R_ENST00000506953.1_Missense_Mutation_p.I409V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	409					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTGTATTGCATTTGTCATTT	0.348																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1225-1227)Att>Gtt		Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.							155	150	152					4																	164272650		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272650A>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1225A>G	4.37:g.164272650A>G	ENSP00000423917:p.Ile409Val					NPY5R_uc021xtw.1_Missense_Mutation_p.I409V	p.I409V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			3	1407	+	all_hematologic(180;0.166)	Prostate(90;0.109)	409					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1225A>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.492013	0.26774	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.54479	0.57;0.57;0.57	4.84	0.743	0.18347	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.33644	0.0870	L	0.36672	1.1	0.32881	D	0.510589	B	0.24426	0.103	B	0.22152	0.038	T	0.28713	-1.0035	10	0.14656	T	0.56	.	6.2659	0.20925	0.7157:0.1341:0.1502:0.0	.	409	Q15761	NPY5R_HUMAN	V	409	ENSP00000339377:I409V;ENSP00000423917:I409V;ENSP00000423474:I409V	ENSP00000339377:I409V	I	+	1	0	NPY5R	164492100	0.998000	0.40836	0.975000	0.42487	0.989000	0.77384	2.208000	0.42797	0.303000	0.22785	0.377000	0.23210	ATT		0.348	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		G	164272650	A	G	164272650	3	3	58	1	0	0	0	0	1	0	0	0	10610	217	8	4	1227	4	NPY5R	4	164272650	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	115734804	164272650	26881626	19	3716											
TRIML1	339976	broad.mit.edu	37	chr4	189065255	189065255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtctgtgccgcatcaCgggaatgaaggagatgctaa	11	8	14	8	2	2	3	1	2	1	1	2	5	2	4	1	2	2	3	1	2	3	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:189065255C>T	ENST00000332517.3	+	5	964	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	275	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGCCGCATCACGGGAATGAAG	0.527																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0		p.T275T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(823-825)aCg>aTg		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							67	70	69					4																	189065255		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065255C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.824C>T	4.37:g.189065255C>T	ENSP00000327738:p.Thr275Met					TRIML1_uc003izn.1_5'UTR	p.T275M	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	4	939	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	275			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.824C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	12.93	2.086924	0.36855	.	.	ENSG00000184108	ENST00000332517	T	0.09538	2.97	5.29	5.29	0.74685	B30.2/SPRY domain (1);	0.400974	0.21823	N	0.068586	T	0.29684	0.0741	L	0.58925	1.835	0.41117	D	0.985788	D	0.89917	1.0	D	0.85130	0.997	T	0.00189	-1.1938	10	0.72032	D	0.01	-11.9021	14.6604	0.68868	0.0:1.0:0.0:0.0	.	275	Q8N9V2	TRIML_HUMAN	M	275	ENSP00000327738:T275M	ENSP00000327738:T275M	T	+	2	0	TRIML1	189302249	0.970000	0.33590	0.997000	0.53966	0.047000	0.14425	2.098000	0.41757	2.928000	0.99379	0.639000	0.83563	ACG		0.527	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189065255	C	T	189065255	3	4	58	1	0	0	0	0	1	0	0	0	16547	536	19	1	842	1	TRIML1	4	189065255	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	24792605	189065255	2089021	20	3717											
CTNND2	1501	broad.mit.edu	37	chr5	11082954	11082954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcggctcggatatatactGaccactgcaaaaacagggaa	15	6	10	10	2	0	1	0	1	0	0	1	3	0	3	1	3	4	2	1	3	6	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:11082954G>A	ENST00000304623.8	-	16	2831	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	CTNND2_ENST00000511377.1_Missense_Mutation_p.S790L|CTNND2_ENST00000503622.1_Missense_Mutation_p.S544L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S448L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S823L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	881					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATATATACTGACCACTGCAA	0.537																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2641-2643)tCa>tTa		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							57	53	54					5																	11082954		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082954G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2642C>T	5.37:g.11082954G>A	ENSP00000307134:p.Ser881Leu					CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	p.S881L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			15	2787	-			881					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2642C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184831	0.94885	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.66781	0.2824	M	0.78049	2.395	0.80722	D	1	D;D;D	0.60160	0.981;0.981;0.987	D;D;D	0.69824	0.966;0.966;0.942	T	0.71533	-0.4564	10	0.87932	D	0	-0.8443	18.7094	0.91651	0.0:0.0:1.0:0.0	.	544;473;881	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	881;823;790;448;544	ENSP00000307134:S881L;ENSP00000352661:S823L;ENSP00000426510:S790L;ENSP00000391155:S448L;ENSP00000426887:S544L	ENSP00000307134:S881L	S	-	2	0	CTNND2	11135954	1.000000	0.71417	0.985000	0.45067	0.968000	0.65278	9.753000	0.98904	2.496000	0.84212	0.563000	0.77884	TCA		0.537	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	11082954	G	A	11082954	3	1	58	1	0	0	0	0	1	0	0	0	4020	1294	45	3	1063	3	CTNND2	5	11082954	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		11082954	169832306	21	3718											
AP3B1	8546	broad.mit.edu	37	chr5	77311333	77311333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaattctgtggtgcagcaAtgattacagcagaagtttca	13	12	10	6	0	2	3	1	2	1	1	2	3	2	3	0	1	4	4	0	1	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:77311333A>G	ENST00000255194.6	-	26	3207	c.3032T>C	c.(3031-3033)aTt>aCt	p.I1011T	AP3B1_ENST00000519295.1_Missense_Mutation_p.I962T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1011					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGGTGCAGCAATGATTACAGC	0.383									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3031-3033)aTt>aCt		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							106	107	107					5																	77311333		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311333A>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3032T>C	5.37:g.77311333A>G	ENSP00000255194:p.Ile1011Thr						p.I1011T	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	25	3157	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1011					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3032T>C	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	A	0.461	-0.889142	0.02511	.	.	ENSG00000132842	ENST00000255194;ENST00000519295	T;T	0.51817	0.69;0.69	5.47	3.13	0.36017	.	0.548660	0.20455	N	0.092003	T	0.14570	0.0352	N	0.01482	-0.84	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.21655	-1.0239	10	0.09084	T	0.74	-4.2256	2.8757	0.05630	0.469:0.0:0.3445:0.1865	.	1011	O00203	AP3B1_HUMAN	T	1011;962	ENSP00000255194:I1011T;ENSP00000430597:I962T	ENSP00000255194:I1011T	I	-	2	0	AP3B1	77347089	1.000000	0.71417	0.002000	0.10522	0.600000	0.36913	3.869000	0.56062	0.926000	0.37118	0.533000	0.62120	ATT		0.383	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			G	77311333	A	G	77311333	3	3	58	1	0	0	0	0	1	0	0	0	744	101	4	4	260	4	AP3B1	5	77311333	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	66228379	77311333	103603927	22	3719											
GPR150	285601	broad.mit.edu	37	chr5	94956705	94956705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccgtcgcgggcttcgtCgcgcctgttacggtcctggg	2	9	17	13	7	0	0	0	0	0	0	4	1	1	0	3	4	1	2	3	4	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:94956705C>T	ENST00000380007.2	+	1	924	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGGGCTTCGTCGCGCCTGTTA	0.751																																						uc003kle.1																			0				lung(2)	2						c.(724-726)gtC>gtT		Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.							7	8	8					5																	94956705		2030	4046	6076	SO:0001819	synonymous_variant	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956705C>T	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"GPCR / Class A : Orphans"	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.726C>T	5.37:g.94956705C>T							p.V242V	NM_199243	NP_954713	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	0	726	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	242						Silent	SNP	ENST00000380007.2	37	c.726C>T	CCDS4074.1																																																																																				0.751	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			T	94956705	C	T	94956705	2	4	58	1	0	0	0	0	0	0	0	1	6656	871	31	2		2	GPR150	5	94956705	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	17645372	94956705	85958555	23	3720											
PPIC	5480	broad.mit.edu	37	chr5	122359634	122359634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgccactgttgatgatcGagcagttggtgagtggacgg	7	12	15	7	2	1	3	0	3	1	0	2	5	1	4	1	3	2	3	1	3	0	3	rs371579770		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:122359634G>A	ENST00000306442.4	-	5	690	c.575C>T	c.(574-576)tCg>tTg	p.S192L	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	192	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTTGATGATCGAGCAGTTGGT	0.478																																					Ovarian(99;690 1502 20765 45543 49568)	uc003kth.3																			0		p.S192S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(574-576)tCg>tTg		Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	L-Proline(DB00172)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	273	244	254		575	2.9	1	5		254	0,8600		0,0,4300	no	missense	PPIC	NM_000943.4	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	192/213	122359634	1,13005	2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122359634G>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.575C>T	5.37:g.122359634G>A	ENSP00000303057:p.Ser192Leu						p.S192L	NM_000943	NP_000934	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	680	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	192			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.575C>T	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150408	0.37923	2.27E-4	0.0	ENSG00000168938	ENST00000306442	T	0.21191	2.02	5.93	2.86	0.33363	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.926243	0.09180	N	0.837558	T	0.08670	0.0215	N	0.02751	-0.505	0.24316	N	0.995063	B	0.26902	0.163	B	0.26202	0.067	T	0.26467	-1.0102	10	0.51188	T	0.08	.	3.4309	0.07428	0.3804:0.3082:0.3115:0.0	.	192	P45877	PPIC_HUMAN	L	192	ENSP00000303057:S192L	ENSP00000303057:S192L	S	-	2	0	PPIC	122387533	1.000000	0.71417	0.962000	0.40283	0.564000	0.35744	2.754000	0.47532	0.851000	0.35264	-0.126000	0.14955	TCG		0.478	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		A	122359634	G	A	122359634	3	1	58	1	0	0	0	0	1	0	0	0	12320	1059	37	2	67	2	PPIC	5	122359634	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	27402929	122359634	58555626	24	3721											
SLC12A2	6558	broad.mit.edu	37	chr5	127520072	127520072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtattatagcttttgAggaaatcattgagccataca	15	14	7	5	0	1	2	1	2	0	0	1	3	1	3	1	1	3	2	1	1	7	8			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:127520072A>G	ENST00000262461.2	+	25	3503	c.3314A>G	c.(3313-3315)gAg>gGg	p.E1105G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E1089G|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1105					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATAGCTTTTGAGGAAATCATT	0.289																																						uc003kus.3																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3313-3315)gAg>gGg		Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						89	92	91					5																	127520072		2202	4299	6501	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127520072A>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3314A>G	5.37:g.127520072A>G	ENSP00000262461:p.Glu1105Gly					SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.E1089G	p.E1105G	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	24	3478	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1105					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3314A>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087225	0.55968	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86230	-2.08;-2.09	5.33	5.33	0.75918	.	0.230912	0.44902	D	0.000418	D	0.89230	0.6656	M	0.86953	2.85	0.48975	D	0.999739	B;B	0.25521	0.128;0.079	B;B	0.26310	0.068;0.031	D	0.88474	0.3064	10	0.72032	D	0.01	.	15.4569	0.75321	1.0:0.0:0.0:0.0	.	1089;1105	P55011-3;P55011	.;S12A2_HUMAN	G	1105;1089	ENSP00000262461:E1105G;ENSP00000340878:E1089G	ENSP00000262461:E1105G	E	+	2	0	SLC12A2	127547971	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.858000	0.75461	2.229000	0.72834	0.528000	0.53228	GAG		0.289	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		G	127520072	A	G	127520072	3	3	58	1	0	0	0	0	1	0	0	0	14383	304	11	4	3412	4	SLC12A2	5	127520072	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	5160438	127520072	53395188	25	3722											
PCDHA13	56136	broad.mit.edu	37	chr5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggagagcggccaagCgccacaggcttcgtcgaggg	7	5	18	11	4	0	1	0	0	0	1	2	3	0	1	2	5	2	2	2	5	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:140263877C>T	ENST00000289272.2	+	1	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A675V|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	675	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A675V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)	p.A675V(1)	ovary(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2023-2025)gCg>gTg		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							54	51	52					5																	140263877		2202	4300	6502	SO:0001583	missense	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263877C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2024C>T	5.37:g.140263877C>T	ENSP00000289272:p.Ala675Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A675V|PCDHAC2_uc003lid.3_Missense_Mutation_p.A675V	p.A675V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2024	+			688			Cadherin 6.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2024C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874618	0.17395	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.78	4.08	1.24	0.21308	Cadherin (2);	.	.	.	.	T	0.42449	0.1203	M	0.71871	2.18	0.09310	N	1	B;B;B	0.27192	0.001;0.008;0.171	B;B;B	0.20577	0.001;0.002;0.03	T	0.27502	-1.0072	9	0.28530	T	0.3	.	8.3443	0.32263	0.1291:0.7112:0.0:0.1597	.	675;675;675	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	675	ENSP00000386821:A675V;ENSP00000289272:A675V	ENSP00000289272:A675V	A	+	2	0	PCDHA13	140244061	0.055000	0.20627	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	0.063000	0.16370	-0.808000	0.03180	GCG		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263877	C	T	140263877	3	4	58	1	0	0	0	0	1	0	0	0	11523	768	27	1	2026	1	PCDHA13	5	140263877	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	12743805	140263877	40651383	26	3723											
PDGFRB	5159	broad.mit.edu	37	chr5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcatgatcttcagctccGacataagggcttgcttctca	9	12	8	12	1	4	1	3	1	2	0	6	3	5	1	1	1	2	3	1	1	1	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1948-1950)tCg>tTg		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						92	72	79					5																	149503887		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503887G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1949C>T	5.37:g.149503887G>A	ENSP00000261799:p.Ser650Leu					PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	p.S650L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2418	-		all_hematologic(541;0.224)	650			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1949C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590431	0.96590	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83591	-1.74	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000363	D	0.89273	0.6668	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90297	0.4327	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	650;650	A8KAM8;P09619	.;PGFRB_HUMAN	L	650;320	ENSP00000261799:S650L	ENSP00000261799:S650L	S	-	2	0	PDGFRB	149484080	1.000000	0.71417	0.968000	0.41197	0.953000	0.61014	7.876000	0.87215	2.397000	0.81536	0.462000	0.41574	TCG		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		A	149503887	G	A	149503887	3	1	58	1	0	0	0	0	1	0	0	0	11662	1059	37	2	1411	2	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	9240010	149503887	31411373	27	3724											
GABRG2	2566	broad.mit.edu	37	chr5	161520964	161520964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggaaggatatgacaatAaacttcggcctgatatagga	14	10	11	6	1	0	2	0	2	0	0	1	5	0	5	1	4	2	1	1	4	7	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:161520964A>G	ENST00000361925.4	+	2	458	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	GABRG2_ENST00000414552.2_Missense_Mutation_p.K80E|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000356592.3_Missense_Mutation_p.K80E			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	80					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATATGACAATAAACTTCGGCC	0.373																																						uc010jjc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(238-240)Aaa>Gaa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							155	150	151					5																	161520964		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161520964A>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.238A>G	5.37:g.161520964A>G	ENSP00000354651:p.Lys80Glu					GABRG2_uc003lyy.4_Missense_Mutation_p.K80E|GABRG2_uc003lyz.4_Missense_Mutation_p.K80E|GABRG2_uc011dej.2_5'UTR	p.K80E	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	80					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.238A>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206608	0.95033	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.79033	-1.23;-1.23;-1.23	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.68952	2.095	0.80722	D	1	D;D;D	0.58268	0.982;0.976;0.97	P;P;P	0.58577	0.841;0.817;0.814	D	0.86778	0.1977	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	80;80;80	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	E	80	ENSP00000349000:K80E;ENSP00000410732:K80E;ENSP00000354651:K80E	ENSP00000349000:K80E	K	+	1	0	GABRG2	161453542	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.850000	0.92190	2.225000	0.72522	0.460000	0.39030	AAA		0.373	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161520964	A	G	161520964	3	3	58	1	0	0	0	0	1	0	0	0	6172	363	13	4	244	4	GABRG2	5	161520964	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	12017077	161520964	19394296	28	3725											
GRM6	2916	broad.mit.edu	37	chr5	178415969	178415969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcgaatgtactgcagaaGcatccgcccatcagtgggtt	10	9	11	11	2	1	1	1	0	0	1	3	2	2	1	2	1	4	5	2	1	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:178415969G>A	ENST00000517717.1	-	7	1359	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	GRM6_ENST00000231188.5_Missense_Mutation_p.L441F|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	441					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TACTGCAGAAGCATCCGCCCA	0.642																																						uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1321-1323)Ctt>Ttt		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.							63	60	61					5																	178415969		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178415969G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1321C>T	5.37:g.178415969G>A	ENSP00000430767:p.Leu441Phe					GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	p.L441F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1500	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	441						Missense_Mutation	SNP	ENST00000517717.1	37	c.1321C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221249	0.58560	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90620	-2.7;-2.7	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.93756	0.8004	M	0.67517	2.055	0.53005	D	0.999965	D;P	0.89917	1.0;0.92	D;P	0.87578	0.998;0.801	D	0.92913	0.6349	9	0.41790	T	0.15	.	11.798	0.52110	0.0856:0.0:0.9144:0.0	.	481;441	E7EX65;O15303	.;GRM6_HUMAN	F	481;441;441	ENSP00000231188:L441F;ENSP00000430767:L441F	ENSP00000231188:L441F	L	-	1	0	GRM6	178348575	1.000000	0.71417	0.876000	0.34364	0.313000	0.28021	4.689000	0.61723	1.373000	0.46208	0.555000	0.69702	CTT		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			A	178415969	G	A	178415969	3	1	58	1	0	0	0	0	1	0	0	0	6801	971	34	3	1332	3	GRM6	5	178415969	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	16895005	178415969	2499291	29	3726											
ZNF184	7738	broad.mit.edu	37	chr6	27420960	27420960	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttttgtgtttttccacTattacctctggagatagctc	6	19	6	10	0	2	1	0	0	2	1	5	2	3	1	2	1	2	2	2	1	3	7			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:27420960T>G	ENST00000211936.6	-	6	662	c.378A>C	c.(376-378)atA>atC	p.I126I	ZNF184_ENST00000377419.1_Silent_p.I126I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTTCCACTATTACCTCTG	0.413																																						uc003njj.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(376-378)atA>atC		Homo sapiens zinc finger protein 184 (ZNF184), mRNA.							95	97	96					6																	27420960		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420960T>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.378A>C	6.37:g.27420960T>G						ZNF184_uc010jqv.3_Silent_p.I126I|ZNF184_uc003nji.3_Silent_p.I126I	p.I126I	NM_007149	NP_009080	Q99676	ZN184_HUMAN			4	1189	-			126					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.378A>C	CCDS4624.1																																																																																				0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		G	27420960	T	G	27420960	2	3	58	1	0	0	0	0	0	0	0	1	17748	1512	53	5		5	ZNF184	6	27420960	Silent	SNP	T	TCGA-06-0686-01A-01W-0348-08		27420960	143694107	30	3727											
OR2H1	26716	broad.mit.edu	37	chr6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacttaaccctctcGtatacaccctgaggaacaag	11	10	5	15	1	2	1	1	1	1	0	4	2	3	2	3	1	3	1	3	1	5	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:29430405G>A	ENST00000377136.1	+	4	1324	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_ENST00000377132.1_Missense_Mutation_p.V287I|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.V287I|OR2H1_ENST00000377133.1_Missense_Mutation_p.V287I|OR2H1_ENST00000442615.1_Missense_Mutation_p.V287I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493																																						uc003nmi.3																			0				large_intestine(5)|lung(12)	17						c.(859-861)Gta>Ata		Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.							79	81	81					6																	29430405		1510	2708	4218	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430405G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.859G>A	6.37:g.29430405G>A	ENSP00000366340:p.Val287Ile					OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			2	1302	+			287					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.859G>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673561	0.03403	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	3.17	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	0.153166	0.30302	N	0.009934	T	0.01489	0.0048	N	0.01197	-0.965	0.24854	N	0.992386	B	0.09022	0.002	B	0.04013	0.001	T	0.46317	-0.9200	10	0.02654	T	1	.	7.3935	0.26923	0.7976:0.0:0.2024:0.0	.	287	Q9GZK4	OR2H1_HUMAN	I	287	ENSP00000366340:V287I;ENSP00000366337:V287I;ENSP00000393254:V287I;ENSP00000366336:V287I;ENSP00000380010:V287I	ENSP00000366336:V287I	V	+	1	0	OR2H1	29538384	0.998000	0.40836	0.767000	0.31495	0.747000	0.42532	3.997000	0.57016	0.149000	0.19098	-0.368000	0.07277	GTA		0.493	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			A	29430405	G	A	29430405	3	1	58	1	0	0	0	0	1	0	0	0	11001	1145	40	1	861	1	OR2H1	6	29430405	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	2009445	29430405	141684662	31	3728											
SUN3	256979	broad.mit.edu	37	chr7	48035742	48035742	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcaatgatggaggcTcctaaaattataaagtaagt	15	11	8	7	0	1	1	1	1	0	0	2	2	2	2	2	2	1	3	2	2	7	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:48035742T>A	ENST00000297325.4	-	7	738	c.579A>T	c.(577-579)ggA>ggT	p.G193G	SUN3_ENST00000453192.2_Splice_Site_p.G181G|SUN3_ENST00000412142.1_Splice_Site_p.G93G|SUN3_ENST00000395572.2_Splice_Site_p.G193G|SUN3_ENST00000473723.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	193	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGGAGGCTCCTAAAATTA	0.313																																						uc003tof.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e8-1		Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.							53	56	55					7																	48035742		2201	4289	6490	SO:0001630	splice_region_variant	256979					integral to membrane		g.chr7:48035742T>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"Sad1 and UNC84 domain containing 1"	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.578-1A>T	7.37:g.48035742T>A						SUN3_uc010kyq.3_Splice_Site_p.G93_splice|SUN3_uc003tog.3_Splice_Site_p.G193_splice|SUN3_uc011kcf.2_Splice_Site_p.G181_splice	p.G193_splice	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			8	675	-			193			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.578_splice	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536736	0.27475	.	.	ENSG00000164744	ENST00000453071	.	.	.	5.25	-1.09	0.09904	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	3.3705	0.07219	0.3072:0.1979:0.0:0.4949	.	.	.	.	V	117	.	.	E	-	2	0	SUN3	48002267	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	0.392000	0.20801	0.005000	0.14708	0.529000	0.55759	GAG		0.313	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	Silent	A	48035742	T	A	48035742	5	1	58	1	0	0	0	0	0	0	1	0	15390	1565	54	5	510	5	SUN3	7	48035742	Splice_Site	SNP	T	TCGA-06-0686-01A-01W-0348-08		48035742	111102921	32	3729											
ADAM22	53616	broad.mit.edu	37	chr7	87704970	87704970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctctgaatacatagagaGacacattgaacatggaggca	15	8	10	8	0	1	4	0	2	1	2	2	6	2	5	1	2	2	1	1	2	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:87704970G>A	ENST00000265727.7	+	4	432	c.353G>A	c.(352-354)aGa>aAa	p.R118K	ADAM22_ENST00000398201.4_Missense_Mutation_p.R118K|ADAM22_ENST00000398209.3_Missense_Mutation_p.R118K|ADAM22_ENST00000439864.1_Missense_Mutation_p.R118K|ADAM22_ENST00000315984.7_Missense_Mutation_p.R118K|ADAM22_ENST00000398204.4_Missense_Mutation_p.R118K			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	118					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TACATAGAGAGACACATTGAA	0.338																																						uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(352-354)aGa>aAa		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							161	141	148					7																	87704970		1857	4107	5964	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87704970G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.353G>A	7.37:g.87704970G>A	ENSP00000265727:p.Arg118Lys					ADAM22_uc003uji.2_Missense_Mutation_p.R117K|ADAM22_uc003ujj.2_Missense_Mutation_p.R118K|ADAM22_uc003ujk.2_Missense_Mutation_p.R118K|ADAM22_uc003ujl.2_Missense_Mutation_p.R118K|ADAM22_uc003ujm.3_Missense_Mutation_p.R118K|ADAM22_uc003ujo.3_Missense_Mutation_p.R118K|ADAM22_uc003ujp.1_Missense_Mutation_p.R170K	p.R118K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	568	+	Esophageal squamous(14;0.00202)		118					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.353G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955262	0.53293	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	5.24	5.24	0.73138	Peptidase M12B, propeptide (1);	0.054197	0.64402	D	0.000001	T	0.16471	0.0396	L	0.47016	1.485	0.52501	D	0.999957	D;P;P;P;D;D	0.71674	0.996;0.835;0.78;0.812;0.995;0.998	D;P;P;P;P;D	0.76071	0.972;0.693;0.676;0.529;0.901;0.987	T	0.09185	-1.0686	10	0.09590	T	0.72	.	16.0974	0.81135	0.0:0.0:1.0:0.0	.	170;118;118;118;118;118	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	K	118;118;135;118;118;118;118;85	ENSP00000381262:R118K;ENSP00000391334:R118K;ENSP00000413899:R135K;ENSP00000381260:R118K;ENSP00000265727:R118K;ENSP00000315900:R118K;ENSP00000381267:R118K;ENSP00000381261:R85K	ENSP00000265727:R118K	R	+	2	0	ADAM22	87542906	1.000000	0.71417	0.995000	0.50966	0.821000	0.46438	5.585000	0.67497	2.601000	0.87937	0.655000	0.94253	AGA		0.338	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		A	87704970	G	A	87704970	3	1	58	1	0	0	0	0	1	0	0	0	244	942	33	3	367	3	ADAM22	7	87704970	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	39669228	87704970	71433693	33	3730											
SAMD9L	219285	broad.mit.edu	37	chr7	92764397	92764397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtcagatggtgtattGttctgcagaaggacttccac	10	13	10	8	0	3	2	1	0	2	2	4	3	4	3	1	2	1	3	1	2	3	4	rs553222606		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:92764397G>T	ENST00000318238.4	-	5	2104	c.888C>A	c.(886-888)aaC>aaA	p.N296K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N296K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N296K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	296					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGGTGTATTGTTCTGCAGAA	0.338																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(886-888)aaC>aaA		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							98	103	102					7																	92764397		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92764397G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.888C>A	7.37:g.92764397G>T	ENSP00000326247:p.Asn296Lys					SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc022ahh.1_Missense_Mutation_p.N296K	p.N296K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	2104	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		296					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.888C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447146	0.25987	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13538	2.58;2.58;2.58	4.95	2.04	0.26737	.	0.147481	0.41194	D	0.000932	T	0.12518	0.0304	M	0.61703	1.905	0.24200	N	0.995511	P	0.38597	0.639	B	0.36959	0.237	T	0.12372	-1.0550	10	0.33940	T	0.23	-19.8391	5.7803	0.18301	0.3045:0.1334:0.5621:0.0	.	296	Q8IVG5	SAM9L_HUMAN	K	296	ENSP00000326247:N296K;ENSP00000405760:N296K;ENSP00000408796:N296K	ENSP00000326247:N296K	N	-	3	2	SAMD9L	92602333	0.000000	0.05858	0.663000	0.29738	0.382000	0.30200	-0.903000	0.04084	0.653000	0.30826	0.460000	0.39030	AAC		0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		T	92764397	G	T	92764397	3	4	58	1	0	0	0	0	1	0	0	0	13827	1368	48	5	3870	5	SAMD9L	7	92764397	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	5059427	92764397	66374266	34	3731											
AZGP1	563	broad.mit.edu	37	chr7	99564649	99564649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctcccagggcaccaCgaggggctgggccaggctgc	5	4	17	15	1	0	0	0	0	0	0	1	1	1	0	4	6	1	4	4	6	0	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:99564649C>G	ENST00000292401.4	-	4	1010	c.874G>C	c.(874-876)Gtg>Ctg	p.V292L	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	292	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGGGCACCACGAGGGGCTGG	0.637																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(874-876)Gtg>Ctg		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							77	75	75					7																	99564649		2193	4282	6475	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564649C>G	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.874G>C	7.37:g.99564649C>G	ENSP00000292401:p.Val292Leu						p.V292L	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	966	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		292			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.874G>C	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343187	0.41498	.	.	ENSG00000160862	ENST00000292401	T	0.13901	2.55	2.16	-4.32	0.03688	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.170240	0.01359	N	0.012167	T	0.10337	0.0253	L	0.31845	0.965	0.20764	N	0.999857	B	0.18968	0.032	B	0.19391	0.025	T	0.30416	-0.9979	10	0.87932	D	0	.	2.6649	0.05041	0.3866:0.1454:0.0:0.468	.	292	P25311	ZA2G_HUMAN	L	292	ENSP00000292401:V292L	ENSP00000292401:V292L	V	-	1	0	AZGP1	99402585	0.000000	0.05858	0.014000	0.15608	0.334000	0.28698	-2.299000	0.01139	-1.209000	0.02631	0.305000	0.20034	GTG		0.637	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		G	99564649	C	G	99564649	3	3	58	1	0	0	0	0	1	0	0	0	1239	536	19	5	26	5	AZGP1	7	99564649	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	6800252	99564649	59574014	35	3732											
TRPV6	55503	broad.mit.edu	37	chr7	142572331	142572331	+	Frame_Shift_Del	DEL	G	G	-																															cagcccagcacgagtgcaaaGgacatgggtaccacctcccc																										TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:142572331delG	ENST00000359396.3	-	11	1610	c.1365delC	c.(1363-1365)tccfs	p.S455fs	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	455					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGAGTGCAAAGGACATGGGTA	0.592																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1363-1365)tccfs		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							111	95	101					7																	142572331		2203	4300	6503	SO:0001589	frameshift_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572331delG	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1365delC	7.37:g.142572331delG	ENSP00000352358:p.Ser455fs					TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	p.S455fs	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			10	1594	-	Melanoma(164;0.059)		455					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Frame_Shift_Del	DEL	ENST00000359396.3	37	c.1365delC	CCDS5874.1																																																																																				0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		-	142572331	G	-	142572331	7	5	58	1	0	1	0	1	0	0	0	0	16597	987	35	0	832	0	TRPV6	7	142572331	Frame_Shift_Del	DEL	G	TCGA-06-0686-01A-01W-0348-08	43007682	142572331	16566332	36	3733											
ARHGEF10	9639	broad.mit.edu	37	chr8	1808147	1808147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaagtcaacccatattCtgtcatcgacatcacgccat	13	10	6	12	2	4	1	3	1	1	0	5	3	4	1	2	0	1	0	2	0	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:1808147C>T	ENST00000398564.1	+	4	350	c.350C>T	c.(349-351)tCt>tTt	p.S117F	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.S117F|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S93F|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S93F|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S117F|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S117F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	117					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AACCCATATTCTGTCATCGAC	0.597																																						uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(277-279)tCt>tTt		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							147	132	137					8																	1808147		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1808147C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.350C>T	8.37:g.1808147C>T	ENSP00000381571:p.Ser117Phe					ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.3_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.S7F	p.S93F	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	3	456	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	117					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.278C>T		.	.	.	.	.	.	.	.	.	.	C	17.40	3.379791	0.61845	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.78246	-0.31;-0.86;-0.34;-1.16;-0.34;-0.4	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87220	0.6123	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.998;0.998	D	0.88044	0.2783	10	0.87932	D	0	-9.6241	18.9134	0.92494	0.0:1.0:0.0:0.0	.	117;117;117;93;93	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	F	93;93;117;117;117;117	ENSP00000340297:S93F;ENSP00000427909:S93F;ENSP00000431012:S117F;ENSP00000381568:S117F;ENSP00000381571:S117F;ENSP00000262112:S117F	ENSP00000262112:S117F	S	+	2	0	ARHGEF10	1795554	1.000000	0.71417	0.925000	0.36789	0.011000	0.07611	6.709000	0.74665	2.570000	0.86706	0.650000	0.86243	TCT		0.597	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				T	1808147	C	T	1808147	3	4	58	1	0	0	0	0	1	0	0	0	894	913	32	3	288	3	ARHGEF10	8	1808147	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		1808147	144555875	37	3734											
CHD7	55636	broad.mit.edu	37	chr8	61769309	61769309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaagcaggcctttcGcgcacacccacaaggcatct	9	7	8	17	2	1	0	0	0	1	0	3	0	2	0	3	2	2	4	3	2	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:61769309G>A	ENST00000423902.2	+	34	7949	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2490					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483																																						uc003xue.3																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7468-7470)tcG>tcA		Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.							149	146	147					8																	61769309		1950	4151	6101	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769309G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7470G>A	8.37:g.61769309G>A						CHD7_uc022aux.1_Intron	p.S2490S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		33	7962	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2490					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.7470G>A	CCDS47865.1																																																																																				0.483	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61769309	G	A	61769309	2	1	58	1	0	0	0	0	0	0	0	1	3330	1074	38	1		1	CHD7	8	61769309	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	59961162	61769309	84594713	38	3735											
C8orf34	116328	broad.mit.edu	37	chr8	69621313	69621313	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaaatcccagattcattCggtaagttttaagtccaaca	16	11	6	8	1	1	1	1	0	0	1	4	2	3	1	2	1	1	2	2	1	6	5	rs201463505		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:69621313C>T	ENST00000539993.1	+	9	1617	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	C8orf34_ENST00000325233.3_Splice_Site_p.F100F|C8orf34_ENST00000518698.1_Splice_Site_p.F442F|C8orf34_ENST00000337103.4_Splice_Site_p.F331F			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	356								p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343																																						uc010lyz.3																			2	Substitution - coding silent(2)	p.F331F(1)|p.F356F(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.e9+1		Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.							66	63	64					8																	69621313		2203	4300	6503	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69621313C>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1069+1C>T	8.37:g.69621313C>T						C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	p.D443_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		9	1618	+			357					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37	c.1327_splice																																																																																					0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Silent	T	69621313	C	T	69621313	5	4	58	1	0	0	0	0	0	0	1	0	2422	898	31	2	1023	2	C8orf34	8	69621313	Splice_Site	SNP	C	TCGA-06-0686-01A-01W-0348-08	7852004	69621313	76742709	39	3736											
KCNB2	9312	broad.mit.edu	37	chr8	73849588	73849588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgccagggatggcacGctggagtatgccccagttga	7	8	14	12	1	0	1	0	1	0	0	0	3	0	3	4	3	3	5	4	3	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:73849588G>A	ENST00000523207.1	+	3	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGGATGGCACGCTGGAGTATG	0.567																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1996-1998)acG>acA		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							54	54	54					8																	73849588		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849588G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1998G>A	8.37:g.73849588G>A							p.T666T	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	2586	+	Breast(64;0.137)		666					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1998G>A	CCDS6209.1																																																																																				0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		A	73849588	G	A	73849588	2	1	58	1	0	0	0	0	0	0	0	1	8013	1074	38	1		1	KCNB2	8	73849588	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	4228275	73849588	72514434	40	3737											
CCNE2	9134	broad.mit.edu	37	chr8	95900206	95900206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccaatgagttgaagcatAtttttatttatatccttttg	11	20	5	5	0	0	2	0	2	0	0	2	2	2	2	2	0	1	2	2	0	6	11			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:95900206A>C	ENST00000520509.1	-	7	801	c.549T>G	c.(547-549)aaT>aaG	p.N183K	CCNE2_ENST00000523476.1_5'UTR|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000308108.4_Missense_Mutation_p.N183K|CCNE2_ENST00000396133.3_Missense_Mutation_p.N183K			O96020	CCNE2_HUMAN	cyclin E2	183					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTTGAAGCATATTTTTATTTA	0.284																																						uc003yhc.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(547-549)aaT>aaG		Homo sapiens cyclin E2 (CCNE2), mRNA.							63	68	66					8																	95900206		2198	4275	6473	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95900206A>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.549T>G	8.37:g.95900206A>C	ENSP00000429089:p.Asn183Lys					CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	p.N183K	NM_057749	NP_477097	O96020	CCNE2_HUMAN			6	653	-	Breast(36;8.75e-07)		183					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.549T>G	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.63|14.63	2.593437|2.593437	0.46214|0.46214	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000524224|ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	.|T;T;T	.|0.10960	.|2.82;2.82;2.82	5.63|5.63	0.687|0.687	0.18020|0.18020	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.222920	.|0.53938	.|D	.|0.000053	T|T	0.05273|0.05273	0.0140|0.0140	N|N	0.21373|0.21373	0.66|0.66	0.32443|0.32443	N|N	0.546393|0.546393	.|B;B	.|0.33777	.|0.409;0.425	.|B;B	.|0.36030	.|0.216;0.136	T|T	0.38457|0.38457	-0.9660|-0.9660	5|10	.|0.02654	.|T	.|1	.|.	5.8369|5.8369	0.18613|0.18613	0.5068:0.0:0.3689:0.1243|0.5068:0.0:0.3689:0.1243	.|.	.|183;183	.|Q8WUE3;O96020	.|.;CCNE2_HUMAN	R|K	47|183;183;75;183	.|ENSP00000429089:N183K;ENSP00000309181:N183K;ENSP00000379437:N183K	.|ENSP00000309181:N183K	I|N	-|-	2|3	0|2	CCNE2|CCNE2	95969382|95969382	0.298000|0.298000	0.24417|0.24417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	-0.134000|-0.134000	0.10436|0.10436	-0.100000|-0.100000	0.12241|0.12241	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.284	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		C	95900206	A	C	95900206	3	2	58	1	0	0	0	0	1	0	0	0	2921	446	16	5	689	5	CCNE2	8	95900206	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	22050618	95900206	50463816	41	3738											
ENPP2	5168	broad.mit.edu	37	chr8	120569830	120569830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtagctgcggctggtCtttcggaagaagtccaggct	6	11	15	9	2	2	1	0	0	2	1	4	2	3	2	1	5	2	4	1	5	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:120569830C>T	ENST00000075322.6	-	25	2581	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	ENPP2_ENST00000427067.2_Silent_p.K862K|ENPP2_ENST00000522826.1_Silent_p.K866K|ENPP2_ENST00000522167.1_Silent_p.K476K|ENPP2_ENST00000259486.6_Silent_p.K893K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	841	Required for secretion. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCGGCTGGTCTTTCGGAAGA	0.468																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0		p.R892Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2677-2679)aaG>aaA		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							191	177	182					8																	120569830		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569830C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2523G>A	8.37:g.120569830C>T						ENPP2_uc011lic.2_Silent_p.K379K|ENPP2_uc003yor.2_Silent_p.K476K|ENPP2_uc010mdd.2_Silent_p.K866K|ENPP2_uc003yot.2_Silent_p.K841K	p.K893K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2765	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		841					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2679G>A	CCDS34936.1																																																																																				0.468	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120569830	C	T	120569830	2	4	58	1	0	0	0	0	0	0	0	1	5130	912	32	3		3	ENPP2	8	120569830	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	24669624	120569830	25794192	42	3739											
COL14A1	7373	broad.mit.edu	37	chr8	121326187	121326187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaccagatggccctcGgggtgaaattggtctgccag	8	7	15	11	1	1	2	0	1	1	1	2	3	1	3	4	5	1	0	4	5	1	1	rs142082215		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:121326187G>A	ENST00000297848.3	+	38	4742	c.4472G>A	c.(4471-4473)cGg>cAg	p.R1491Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.R1396Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.R1491Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGGCCCTCGGGGTGAAATT	0.468																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4471-4473)cGg>cAg		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.		G	GLN/ARG	0,4406		0,0,2203	145	143	144		4472	5.1	1	8	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1491/1797	121326187	1,13005	2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121326187G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4472G>A	8.37:g.121326187G>A	ENSP00000297848:p.Arg1491Gln					COL14A1_uc003yoz.3_Missense_Mutation_p.R456Q	p.R1491Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		37	4737	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1491			Triple-helical region 1 (COL2).			Missense_Mutation	SNP	ENST00000297848.3	37	c.4472G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616105	0.66672	0.0	1.16E-4	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.94184	-3.37;-3.37;-3.37	5.97	5.09	0.68999	.	0.179522	0.50627	D	0.000111	D	0.93400	0.7895	N	0.20445	0.575	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93198	0.6589	10	0.35671	T	0.21	.	16.0956	0.81117	0.0:0.1345:0.8655:0.0	.	1491	Q05707	COEA1_HUMAN	Q	1491;1491;1396	ENSP00000311809:R1491Q;ENSP00000297848:R1491Q;ENSP00000247781:R1396Q	ENSP00000247781:R1396Q	R	+	2	0	COL14A1	121395368	1.000000	0.71417	0.980000	0.43619	0.430000	0.31655	4.110000	0.57831	1.511000	0.48818	0.650000	0.86243	CGG		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121326187	G	A	121326187	3	1	58	1	0	0	0	0	1	0	0	0	3671	1116	39	2	4618	2	COL14A1	8	121326187	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	756357	121326187	25037835	43	3740											
COL22A1	169044	broad.mit.edu	37	chr8	139606377	139606377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggccctgggggccCaggtctgccttgagatgact	5	8	16	12	0	1	2	0	2	1	1	2	3	2	2	4	5	1	0	4	5	0	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:139606377C>A	ENST00000303045.6	-	63	4944	c.4498G>T	c.(4498-4500)Ggg>Tgg	p.G1500W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1480W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1500	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGGGGCCCAGGTCTGCCT	0.632										HNSCC(7;0.00092)																												uc003yvd.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4498-4500)Ggg>Tgg		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							34	39	37					8																	139606377		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606377C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4498G>T	8.37:g.139606377C>A	ENSP00000303153:p.Gly1500Trp	HNSCC(7;0.00092)				COL22A1_uc011ljo.2_Missense_Mutation_p.G780W	p.G1500W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		62	4945	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1500			Collagen-like 15.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4498G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061118	0.76074	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99369	-5.78;-5.78	5.92	5.92	0.95590	.	0.000000	0.49916	U	0.000136	D	0.99691	0.9883	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97622	1.0136	10	0.87932	D	0	.	19.3539	0.94402	0.0:1.0:0.0:0.0	.	1480;1500	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1500;1480;1193	ENSP00000303153:G1500W;ENSP00000387655:G1480W	ENSP00000303153:G1500W	G	-	1	0	COL22A1	139675559	1.000000	0.71417	0.909000	0.35828	0.968000	0.65278	7.453000	0.80700	2.820000	0.97059	0.650000	0.86243	GGG		0.632	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139606377	C	A	139606377	3	1	58	1	0	0	0	0	1	0	0	0	3681	594	21	5	394	5	COL22A1	8	139606377	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	18280190	139606377	6757645	44	3741											
IL15RA	3601	broad.mit.edu	37	chr10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgctgctggtccccCaagtcaccggcagagcctcc	6	8	9	18	1	2	1	1	0	1	1	5	1	4	1	5	2	3	3	5	2	1	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:5995110C>A	ENST00000379977.3	-	7	849	c.752G>T	c.(751-753)tGg>tTg	p.W251L	IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000525219.2_Missense_Mutation_p.W215L|IL15RA_ENST00000534292.1_5'UTR			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	251					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557																																						uc021pmo.1																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1009-1011)tGg>tTg		Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.							81	81	81					10																	5995110		2203	4300	6503	SO:0001583	missense	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:5995110C>A	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"Interleukins and interleukin receptors", "CD molecules"	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.752G>T	10.37:g.5995110C>A	ENSP00000369312:p.Trp251Leu					IL15RA_uc010qau.2_Missense_Mutation_p.W218L|IL15RA_uc021pmp.1_Missense_Mutation_p.W188L|IL15RA_uc001iiv.3_Missense_Mutation_p.W251L|IL15RA_uc001iiw.3_Missense_Mutation_p.W215L|IL15RA_uc001iiy.3_Missense_Mutation_p.W99L	p.W337L	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN			7	1024	-			251					B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	c.1010G>T	CCDS7074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.414|6.414	0.444477|0.444477	0.12164|0.12164	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000532039|ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250	.|T;T;T;T;T	.|0.40225	.|1.04;1.05;1.06;2.04;1.04	3.4|3.4	1.4|1.4	0.22301|0.22301	.|.	.|0.556218	.|0.14484	.|N	.|0.316770	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.23891	.|T	.|0.37	-24.3979|-24.3979	5.6406|5.6406	0.17562|0.17562	0.2388:0.5506:0.2106:0.0|0.2388:0.5506:0.2106:0.0	.|.	.|218;251	.|Q13261-3;Q13261	.|.;I15RA_HUMAN	W|L	193|186;251;215;215;218;153	.|ENSP00000380423:W186L;ENSP00000369312:W251L;ENSP00000380421:W215L;ENSP00000435454:W218L;ENSP00000380422:W153L	.|ENSP00000322245:W215L	G|W	-|-	1|2	0|0	IL15RA|IL15RA	6035116|6035116	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.285000|-0.285000	0.08410|0.08410	0.373000|0.373000	0.24621|0.24621	0.313000|0.313000	0.20887|0.20887	GGG|TGG		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		A	5995110	C	A	5995110	3	1	58	1	0	0	0	0	1	0	0	0	7632	595	21	5	55	5	IL15RA	10	5995110	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		5995110	129539637	45	3742											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	20	8	8	5	0	0	3	0	0	0	3	0	3	0	3	1	0	4	5	1	0	9	5	rs569602183	byFrequency	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						uc001jix.4																			2	Substitution - Missense(2)	p.S127I(4)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(379-381)aGc>aTc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile						p.S127I	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN			3	778	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.380G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		T	51754173	G	T	51754173	3	4	58	1	0	0	0	0	1	0	0	0	372	971	34	5	394	5	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	45759063	51754173	83780574	46	3743											
DUSP13	51207	broad.mit.edu	37	chr10	76867879	76867879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtagaagtcagggcCgccctgacagtagaggccct	8	6	14	13	2	1	3	1	1	0	2	1	3	1	3	4	2	1	3	4	2	3	2	rs200260267	byFrequency	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:76867879C>T	ENST00000372702.3	-	2	301	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	88					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGTCAGGGCCGCCCTGACAG	0.622													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		18517	0		0	False		,,,				2504	0				NSCLC(174;1655 2059 12324 40663 42963)	uc001jws.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(238-240)Ggc>Agc		Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.		C	SER/GLY,,	3,4069		0,3,2033	42	50	47		238,,	0.1	0.1	10		47	0,8326		0,0,4163	yes	missense,intron,intron	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	56,,	0,3,6196	TT,TC,CC		0.0,0.0737,0.0242	,,	80/189,,	76867879	3,12395	2036	4163	6199	SO:0001583	missense	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76867879C>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.238G>A	10.37:g.76867879C>T	ENSP00000361787:p.Gly80Ser					DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	p.G80S	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN			1	293	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		80			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000372702.3	37	c.238G>A	CCDS53542.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602132	0.46423	7.37E-4	0.0	ENSG00000079393	ENST00000372702	T	0.59772	0.24	5.2	0.144	0.14824	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.42854	0.1221	L	0.43554	1.36	0.09310	N	0.999997	B	0.29378	0.243	B	0.27380	0.079	T	0.23476	-1.0187	9	0.26408	T	0.33	.	5.7868	0.18338	0.0:0.3554:0.1421:0.5025	.	80	Q6B8I1	MDSP_HUMAN	S	80	ENSP00000361787:G80S	ENSP00000361787:G80S	G	-	1	0	DUSP13	76537885	0.000000	0.05858	0.056000	0.19401	0.973000	0.67179	-0.125000	0.10579	-0.128000	0.11641	-0.140000	0.14226	GGC		0.622	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3			T	76867879	C	T	76867879	3	4	58	1	0	0	0	0	1	0	0	0	4813	652	23	2	1232	2	DUSP13	10	76867879	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	25113706	76867879	58666868	47	3744											
MUC2	4583	broad.mit.edu	37	chr11	1078153	1078153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcggggactacaacGgcctgcagagctattcagaa	10	7	12	12	2	2	2	1	0	1	2	2	3	2	3	2	3	5	2	2	3	4	3	rs375827711		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:1078153G>T	ENST00000441003.2	+	4	547	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C	MUC2_ENST00000359061.5_Missense_Mutation_p.G174C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	174	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACTACAACGGCCTGCAGAG	0.667																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(520-522)Ggc>Tgc		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						17	20	19					11																	1078153		1871	4094	5965	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078153G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.520G>T	11.37:g.1078153G>T	ENSP00000415183:p.Gly174Cys						p.G174C	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	547	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	174			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.520G>T		.	.	.	.	.	.	.	.	.	.	G	13.91	2.378173	0.42105	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	3.5	3.5	0.40072	.	0.083573	0.45867	U	0.000340	T	0.82144	0.4973	M	0.91140	3.18	0.51482	D	0.999924	D	0.89917	1.0	D	0.97110	1.0	D	0.86791	0.1985	10	0.72032	D	0.01	.	14.1637	0.65464	0.0:0.0:1.0:0.0	.	174	E7EUV1	.	C	174	ENSP00000415183:G174C;ENSP00000351956:G174C	ENSP00000351956:G174C	G	+	1	0	MUC2	1068153	1.000000	0.71417	0.481000	0.27354	0.550000	0.35303	7.546000	0.82137	1.772000	0.52199	0.511000	0.50034	GGC		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1078153	G	T	1078153	3	4	58	1	0	0	0	0	1	0	0	0	9975	1116	39	5	534	5	MUC2	11	1078153	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		1078153	133928363	48	3745											
UBQLN3	50613	broad.mit.edu	37	chr11	5529867	5529867	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcctccatgtgtggAagtccaggggttggggagag	8	8	17	8	0	0	2	0	1	0	1	2	4	2	3	4	5	1	1	4	5	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:5529867A>T	ENST00000311659.4	-	2	1069	c.922T>A	c.(922-924)Tcc>Acc	p.S308T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	308										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTGTGGAAGTCCAGGGG	0.517																																					Ovarian(72;684 1260 12332 41642 52180)	uc021qcw.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(922-924)Tcc>Acc		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							96	78	84					11																	5529867		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529867A>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.922T>A	11.37:g.5529867A>T	ENSP00000347997:p.Ser308Thr					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S308T	p.S308T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	922	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	308					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.922T>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	5.176	0.218004	0.09810	.	.	ENSG00000175520	ENST00000311659	T	0.38077	1.16	5.52	0.327	0.15913	.	0.504055	0.16833	N	0.197653	T	0.24353	0.0590	M	0.67397	2.05	0.29240	N	0.872711	B	0.27380	0.177	B	0.18561	0.022	T	0.12091	-1.0561	10	0.13853	T	0.58	-28.6688	1.0623	0.01603	0.3857:0.2992:0.1706:0.1445	.	308	Q9H347	UBQL3_HUMAN	T	308	ENSP00000347997:S308T	ENSP00000347997:S308T	S	-	1	0	UBQLN3	5486443	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	0.753000	0.26376	0.445000	0.26639	0.482000	0.46254	TCC		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		T	5529867	A	T	5529867	3	4	58	1	0	0	0	0	1	0	0	0	16895	246	9	5	1049	5	UBQLN3	11	5529867	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	4451714	5529867	129476649	49	3746											
GYLTL1B	120071	broad.mit.edu	37	chr11	45946107	45946107	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactccggcctctatgggctAatgaagctggtgctgcccag	7	10	12	12	1	1	1	0	1	1	0	2	1	2	1	3	3	4	3	3	3	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:45946107A>C	ENST00000531526.1	+	5	654	c.543A>C	c.(541-543)ctA>ctC	p.L181L	GYLTL1B_ENST00000325468.5_Silent_p.L181L|GYLTL1B_ENST00000529052.1_Silent_p.L150L|GYLTL1B_ENST00000401752.1_Silent_p.L181L|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000536139.1_Silent_p.L150L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	181					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCTATGGGCTAATGAAGCTGG	0.612																																						uc001nbv.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(541-543)ctA>ctC		Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.							86	85	85					11																	45946107		2203	4299	6502	SO:0001819	synonymous_variant	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45946107A>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.543A>C	11.37:g.45946107A>C						GYLTL1B_uc001nbw.1_Silent_p.L150L|GYLTL1B_uc001nbx.1_Silent_p.L181L	p.L181L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	4	654	+			181					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	c.543A>C	CCDS31473.1																																																																																				0.612	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		C	45946107	A	C	45946107	2	2	58	1	0	0	0	0	0	0	0	1	6907	349	13	5		5	GYLTL1B	11	45946107	Silent	SNP	A	TCGA-06-0686-01A-01W-0348-08	40416240	45946107	89060409	50	3747											
OR4S2	219431	broad.mit.edu	37	chr11	55419288	55419288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaactgtggggcagaaaTgttttcttggaggctaaagg	13	10	14	4	0	1	2	0	0	1	2	1	3	1	3	0	5	1	3	0	5	5	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:55419288T>A	ENST00000312422.2	+	1	909	c.909T>A	c.(907-909)aaT>aaA	p.N303K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGCAGAAATGTTTTCTTGG	0.358																																						uc001nhs.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(907-909)aaT>aaA		Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.							107	103	104					11																	55419288		2176	4020	6196	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419288T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.909T>A	11.37:g.55419288T>A	ENSP00000310337:p.Asn303Lys						p.N303K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			0	909	+		all_epithelial(135;0.0748)	303					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.909T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	6.047	0.376983	0.11466	.	.	ENSG00000174982	ENST00000312422	T	0.34072	1.38	5.35	-3.58	0.04597	.	0.536624	0.16742	N	0.201410	T	0.08044	0.0201	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	10	0.02654	T	1	.	4.7514	0.13063	0.3086:0.0:0.2249:0.4665	.	303	Q8NH73	OR4S2_HUMAN	K	303	ENSP00000310337:N303K	ENSP00000310337:N303K	N	+	3	2	OR4S2	55175864	0.000000	0.05858	0.000000	0.03702	0.639000	0.38242	-2.061000	0.01391	-0.297000	0.08934	0.443000	0.29094	AAT		0.358	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		A	55419288	T	A	55419288	3	1	58	1	0	0	0	0	1	0	0	0	11083	1461	51	5	911	5	OR4S2	11	55419288	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	9473181	55419288	79587228	51	3748											
MRE11A	4361	broad.mit.edu	37	chr11	94192689	94192689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttctcctccttgtccAcaaattcttgtactgcttca	7	17	3	14	0	4	0	1	0	3	0	7	0	6	0	3	0	2	2	3	0	2	6			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94192689A>T	ENST00000323929.3	-	13	1607	c.1385T>A	c.(1384-1386)gTg>gAg	p.V462E	MRE11A_ENST00000407439.3_Missense_Mutation_p.V465E|MRE11A_ENST00000323977.3_Missense_Mutation_p.V462E|MRE11A_ENST00000393241.4_Missense_Mutation_p.V462E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	462					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTCCTTGTCCACAAATTCTTG	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc009ywj.2																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1393-1395)gTg>gAg	Homologous recombination	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.							179	163	169					11																	94192689		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94192689A>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1385T>A	11.37:g.94192689A>T	ENSP00000325863:p.Val462Glu					MRE11A_uc001peu.2_Missense_Mutation_p.V462E|MRE11A_uc001pev.2_Missense_Mutation_p.V462E	p.V465E			P49959	MRE11_HUMAN			12	1714	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	462					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1394T>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930668	0.92389	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;T;D	0.81579	-1.5;-1.51;-1.47;-1.5	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.992	D	0.90966	0.4816	10	0.87932	D	0	-17.7919	16.125	0.81386	1.0:0.0:0.0:0.0	.	465;462;462	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	E	462;465;462;462	ENSP00000325863:V462E;ENSP00000385614:V465E;ENSP00000326094:V462E;ENSP00000376933:V462E	ENSP00000325863:V462E	V	-	2	0	MRE11A	93832337	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.262000	0.95591	2.213000	0.71641	0.397000	0.26171	GTG		0.398	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		T	94192689	A	T	94192689	3	4	58	1	0	0	0	0	1	0	0	0	9759	159	6	5	773	5	MRE11A	11	94192689	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	38773401	94192689	40813827	52	3749											
PIWIL4	143689	broad.mit.edu	37	chr11	94328516	94328516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatttccagctgatgaagGctgtggctgaaaagacacgt	11	10	12	8	1	0	5	0	4	0	1	1	5	1	5	1	2	1	3	1	2	3	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94328516G>A	ENST00000299001.6	+	10	1403	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	398					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGATGAAGGCTGTGGCTGA	0.502																																						uc001pfa.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1192-1194)Gct>Act		Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.							120	109	113					11																	94328516		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94328516G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1192G>A	11.37:g.94328516G>A	ENSP00000299001:p.Ala398Thr					PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	p.A398T	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			9	1403	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	398					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.1192G>A	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359515	0.61403	.	.	ENSG00000134627	ENST00000299001	T	0.14893	2.47	4.73	1.77	0.24775	Argonaute/Dicer protein, PAZ (3);	0.319059	0.25047	N	0.033553	T	0.16041	0.0386	L	0.60904	1.88	0.80722	D	1	B	0.32893	0.389	B	0.33121	0.158	T	0.05053	-1.0909	10	0.29301	T	0.29	-7.5925	9.4494	0.38717	0.2468:0.0:0.7532:0.0	.	398	Q7Z3Z4	PIWL4_HUMAN	T	398	ENSP00000299001:A398T	ENSP00000299001:A398T	A	+	1	0	PIWIL4	93968164	1.000000	0.71417	0.989000	0.46669	0.784000	0.44337	3.959000	0.56744	0.607000	0.29982	-0.258000	0.10820	GCT		0.502	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		A	94328516	G	A	94328516	3	1	58	1	0	0	0	0	1	0	0	0	11960	1203	42	3	1230	3	PIWIL4	11	94328516	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	135827	94328516	40678000	53	3750											
INHBE	83729	broad.mit.edu	37	chr12	57849443	57849443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccccaagcagaacgagctCtggtgctggagctagccaag	11	5	12	13	1	1	1	0	0	1	1	1	3	1	2	3	2	6	4	3	2	4	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:57849443C>G	ENST00000266646.2	+	1	340	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	42					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGAACGAGCTCTGGTGCTGGA	0.622																																					GBM(191;1808 2166 15720 36624 50371)	uc001snw.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(124-126)Ctg>Gtg		Homo sapiens inhibin, beta E (INHBE), mRNA.							66	60	62					12																	57849443		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849443C>G		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.124C>G	12.37:g.57849443C>G	ENSP00000266646:p.Leu42Val						p.L42V	NM_031479	NP_113667	P58166	INHBE_HUMAN			0	348	+			42						Missense_Mutation	SNP	ENST00000266646.2	37	c.124C>G	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629831	0.28978	.	.	ENSG00000139269	ENST00000266646	T	0.64991	-0.13	4.8	3.9	0.45041	Transforming growth factor-beta, N-terminal (1);	0.756621	0.11980	N	0.510845	T	0.60038	0.2238	M	0.62016	1.91	0.32555	N	0.531882	B	0.12630	0.006	B	0.20955	0.032	T	0.63598	-0.6601	10	0.40728	T	0.16	-0.2294	11.3348	0.49498	0.0:0.8173:0.1827:0.0	.	42	P58166	INHBE_HUMAN	V	42	ENSP00000266646:L42V	ENSP00000266646:L42V	L	+	1	2	INHBE	56135710	0.920000	0.31207	1.000000	0.80357	0.996000	0.88848	0.270000	0.18607	1.368000	0.46115	0.655000	0.94253	CTG		0.622	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		G	57849443	C	G	57849443	3	3	58	1	0	0	0	0	1	0	0	0	7744	912	32	5	126	5	INHBE	12	57849443	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		57849443	76002452	54	3751											
KCNRG	283518	broad.mit.edu	37	chr13	50589662	50589662	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtcactttgaatgtGggagggaagatattcacgac	12	10	13	6	1	2	2	2	1	0	1	2	6	2	4	0	3	1	0	0	3	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:50589662G>C	ENST00000312942.1	+	1	273	c.33G>C	c.(31-33)gtG>gtC	p.V11V	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Silent_p.V11V|TRIM13_ENST00000478111.1_Intron	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	11	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTTTGAATGTGGGAGGGAAGA	0.433																																						uc001vdu.3																			0		p.V11M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(31-33)gtG>gtC		Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.							146	152	150					13																	50589662		2203	4300	6503	SO:0001819	synonymous_variant	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50589662G>C		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.33G>C	13.37:g.50589662G>C						DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.V11V	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	0	273	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	11			BTB.		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Silent	SNP	ENST00000312942.1	37	c.33G>C	CCDS9424.1																																																																																				0.433	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			C	50589662	G	C	50589662	2	2	58	1	0	0	0	0	0	0	0	1	8087	1335	47	5		5	KCNRG	13	50589662	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08		50589662	64580216	55	3752											
NEK3	4752	broad.mit.edu	37	chr13	52715184	52715184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttcatttcccaaagctAtcctgattctgctggggttt	6	17	8	10	0	2	1	1	1	1	0	4	1	4	1	2	2	3	4	2	2	2	6			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:52715184A>G	ENST00000339406.3	-	11	1274	c.899T>C	c.(898-900)aTa>aCa	p.I300T	NEK3_ENST00000452082.2_Intron|NEK3_ENST00000400357.2_Intron|NEK3_ENST00000378101.2_Missense_Mutation_p.I300T	NM_001146099.1|NM_002498.2	NP_001139571.1|NP_002489.1	P51956	NEK3_HUMAN	NIMA-related kinase 3	300					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCCAAAGCTATCCTGATTCT	0.428																																						uc001vgh.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18								Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.							63	61	61					13																	52715184		1829	4079	5908	SO:0001583	missense	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52715184A>G	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000339406.3:c.899T>C	13.37:g.52715184A>G	ENSP00000339429:p.Ile300Thr					NEK3_uc001vgi.3_Missense_Mutation_p.I299T|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Intron		NM_001146099	NP_001139571	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)			-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)						A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000339406.3	37			.	.	.	.	.	.	.	.	.	.	A	0.283	-0.985230	0.02180	.	.	ENSG00000136098	ENST00000339406;ENST00000378101	T;T	0.68903	-0.36;-0.36	5.1	-2.39	0.06602	.	1.092110	0.06896	N	0.805194	T	0.42200	0.1192	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17349	-1.0372	9	0.13853	T	0.58	.	5.5692	0.17187	0.3557:0.4652:0.1791:0.0	.	300	P51956	NEK3_HUMAN	T	300	ENSP00000339429:I300T;ENSP00000367341:I300T	ENSP00000339429:I300T	I	-	2	0	NEK3	51613185	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.248000	0.18198	-0.665000	0.05317	-0.313000	0.08912	ATA		0.428	NEK3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				G	52715184	A	G	52715184	3	3	58	1	0	0	0	0	1	0	0	0	10325	449	16	4	645	4	NEK3	13	52715184	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	2125522	52715184	62454694	56	3753											
CTSG	1511	broad.mit.edu	37	chr14	25043567	25043567	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactctcagctgcacctctcGgagtgtatctgttcccctcc	5	12	7	17	1	3	0	1	0	3	0	7	1	5	1	4	1	2	4	4	1	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:25043567G>A	ENST00000216336.2	-	4	514	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	160	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R160*(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCACCTCTCGGAGTGTATCT	0.642																																						uc001wpq.3																			1	Substitution - Nonsense(1)	p.R160*(2)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(478-480)Cga>Tga		Homo sapiens cathepsin G (CTSG), mRNA.							133	111	118					14																	25043567		2203	4300	6503	SO:0001587	stop_gained	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043567G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.478C>T	14.37:g.25043567G>A	ENSP00000216336:p.Arg160*						p.R160*	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	515	-			160			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Nonsense_Mutation	SNP	ENST00000216336.2	37	c.478C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154746	0.78114	.	.	ENSG00000100448	ENST00000216336	.	.	.	5.14	5.14	0.70334	.	0.946965	0.08631	N	0.916966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.8308	0.70146	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000216336:R160X	R	-	1	2	CTSG	24113407	0.999000	0.42202	0.858000	0.33744	0.005000	0.04900	3.788000	0.55446	2.780000	0.95670	0.655000	0.94253	CGA		0.642	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		A	25043567	G	A	25043567	4	1	58	1	0	0	0	0	0	1	0	0	4035	1124	39	2	297	2	CTSG	14	25043567	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		25043567	82305973	57	3754											
CLMN	79789	broad.mit.edu	37	chr14	95669370	95669370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagagccatcggcctcCtcctccctggagtccaggtc	5	9	10	17	1	1	1	0	1	1	1	7	3	5	2	6	3	1	0	6	3	0	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:95669370C>G	ENST00000298912.4	-	9	2429	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	772					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATCGGCCTCCTCCTCCCTGG	0.567																																						uc001yef.2																			0		p.E771K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2314-2316)gaG>gaC		Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.							37	38	37					14																	95669370		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669370C>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2316G>C	14.37:g.95669370C>G	ENSP00000298912:p.Glu772Asp						p.E772D	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	8	2432	-			772					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2316G>C	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870697	0.33069	.	.	ENSG00000165959	ENST00000298912	D	0.92545	-3.06	4.28	0.11	0.14611	.	0.798106	0.10297	N	0.691588	D	0.82549	0.5061	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68720	-0.5334	10	0.34782	T	0.22	.	6.3891	0.21577	0.0:0.3044:0.5562:0.1394	.	772	Q96JQ2	CLMN_HUMAN	D	772	ENSP00000298912:E772D	ENSP00000298912:E772D	E	-	3	2	CLMN	94739123	0.000000	0.05858	0.212000	0.23672	0.546000	0.35178	-0.393000	0.07305	0.120000	0.18254	0.555000	0.69702	GAG		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			G	95669370	C	G	95669370	3	3	58	1	0	0	0	0	1	0	0	0	3542	680	24	5	712	5	CLMN	14	95669370	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	70625803	95669370	11680170	58	3755											
HHIPL1	84439	broad.mit.edu	37	chr14	100118755	100118755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttctgccgctacctgtcCctggatgacacggactactg	7	10	11	13	2	1	1	0	1	1	0	2	3	2	3	3	3	3	2	3	3	2	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:100118755C>T	ENST00000330710.5	+	2	548	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HHIPL1_ENST00000357223.2_Silent_p.S150S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	150					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCTACCTGTCCCTGGATGACA	0.602																																						uc010avs.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(448-450)tcC>tcT		Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.							115	99	104					14																	100118755		2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118755C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.450C>T	14.37:g.100118755C>T						HHIPL1_uc001ygl.1_Silent_p.S150S	p.S150S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			1	515	+		Melanoma(154;0.128)	150					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.450C>T	CCDS45162.1																																																																																				0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		T	100118755	C	T	100118755	2	4	58	1	0	0	0	0	0	0	0	1	7093	610	22	3		3	HHIPL1	14	100118755	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	4449385	100118755	7230785	59	3756											
ZNF609	23060	broad.mit.edu	37	chr15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaactgcccctcccccGtcctaattgactgtccccac	9	8	5	19	1	0	2	0	1	0	1	3	2	3	2	7	0	2	0	7	0	2	2	rs200890644		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:64966530G>A	ENST00000326648.3	+	4	1605	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	493						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522													G|||	1	0.000199681	0	0	5008	,	,		18089	0		0	False		,,,				2504	0.001					uc002ann.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1477-1479)Gtc>Atc		Homo sapiens zinc finger protein 609 (ZNF609), mRNA.		G	ILE/VAL	0,4406		0,0,2203	85	70	75		1477	5.6	1	15		75	6,8592	5.0+/-18.6	0,6,4293	yes	missense	ZNF609	NM_015042.1	29	0,6,6496	AA,AG,GG		0.0698,0.0,0.0461	benign	493/1412	64966530	6,12998	2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966530G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1477G>A	15.37:g.64966530G>A	ENSP00000316527:p.Val493Ile						p.V493I	NM_015042	NP_055857	O15014	ZN609_HUMAN			3	1477	+			493					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1477G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775434	0.31411	0.0	6.98E-4	ENSG00000180357	ENST00000326648	T	0.53857	0.6	5.61	5.61	0.85477	.	0.108019	0.64402	D	0.000006	T	0.38558	0.1045	L	0.33093	0.98	0.46849	D	0.999221	B	0.10296	0.003	B	0.13407	0.009	T	0.25676	-1.0125	10	0.33940	T	0.23	-11.9829	7.3316	0.26586	0.2008:0.0:0.7992:0.0	.	493	O15014	ZN609_HUMAN	I	493	ENSP00000316527:V493I	ENSP00000316527:V493I	V	+	1	0	ZNF609	62753583	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.442000	0.59988	2.638000	0.89438	0.650000	0.86243	GTC		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64966530	G	A	64966530	3	1	58	1	0	0	0	0	1	0	0	0	18032	1145	40	1	1491	1	ZNF609	15	64966530	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		64966530	37564862	60	3757											
ISLR	3671	broad.mit.edu	37	chr15	74468444	74468444	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggcctgctcctgctGggccaaagcctcctcctctt	4	9	8	20	0	1	0	0	0	1	0	4	0	4	0	8	2	3	2	8	2	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:74468444G>C	ENST00000249842.3	+	2	1602	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.L415L	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	415					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCTCCTGCTGGGCCAAAGCC	0.617																																						uc002axg.1																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(1243-1245)ctG>ctC		Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.							35	37	36					15																	74468444		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74468444G>C	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1245G>C	15.37:g.74468444G>C						ISLR_uc002axh.1_Silent_p.L415L|ISLR_uc021sqf.1_Silent_p.L415L	p.L415L	NM_005545	NP_958934	O14498	ISLR_HUMAN			1	1527	+			415						Silent	SNP	ENST00000249842.3	37	c.1245G>C	CCDS10260.1																																																																																				0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		C	74468444	G	C	74468444	2	2	58	1	0	0	0	0	0	0	0	1	7858	1335	47	5		5	ISLR	15	74468444	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	9501914	74468444	28062948	61	3758											
ARNT2	9915	broad.mit.edu	37	chr15	80845010	80845010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgtatgcatggacatGaatgggatgtcggtgcccac	8	11	12	10	1	1	1	0	1	1	0	3	3	1	3	2	3	2	2	2	3	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:80845010G>T	ENST00000303329.4	+	10	1149	c.984G>T	c.(982-984)atG>atT	p.M328I	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Missense_Mutation_p.M317I|ARNT2_ENST00000533983.1_Missense_Mutation_p.M317I	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	328	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.M328I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGACATGAATGGGATGT	0.493																																						uc002bfr.3																			1	Substitution - Missense(1)	p.M328I(2)	lung(1)	NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(982-984)atG>atT		Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.							164	137	146					15																	80845010		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845010G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.984G>T	15.37:g.80845010G>T	ENSP00000307479:p.Met328Ile					ARNT2_uc010unm.2_Missense_Mutation_p.M317I|ARNT2_uc002bfs.3_Missense_Mutation_p.M317I	p.M328I	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		9	1150	+			328			PAS 2.		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.984G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310828	0.60414	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.05081	3.5	5.45	5.45	0.79879	PAS (1);	0.113470	0.85682	D	0.000000	T	0.04227	0.0117	N	0.03224	-0.385	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.53330	-0.8454	10	0.31617	T	0.26	.	19.2806	0.94051	0.0:0.0:1.0:0.0	.	328	Q9HBZ2	ARNT2_HUMAN	I	317;328;328	ENSP00000307479:M328I	ENSP00000307479:M328I	M	+	3	0	ARNT2	78632065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.178000	0.77657	2.547000	0.85894	0.467000	0.42956	ATG		0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			T	80845010	G	T	80845010	3	4	58	1	0	0	0	0	1	0	0	0	966	1290	45	5	1022	5	ARNT2	15	80845010	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	6376566	80845010	21686382	62	3759											
C15orf26	161502	broad.mit.edu	37	chr15	81428924	81428924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgcttgtgaatcctgAtgatcctgacacagaagctg	11	11	11	8	0	0	6	0	5	0	1	2	6	2	6	2	0	2	2	2	0	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:81428924A>G	ENST00000286732.4	+	3	310	c.227A>G	c.(226-228)gAt>gGt	p.D76G		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	76										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAATCCTGATGATCCTGAC	0.408																																						uc002bgb.3																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(226-228)gAt>gGt		Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.							151	153	152					15																	81428924		2128	4251	6379	SO:0001583	missense	161502							g.chr15:81428924A>G	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.227A>G	15.37:g.81428924A>G	ENSP00000286732:p.Asp76Gly					C15orf26_uc010blp.1_Missense_Mutation_p.D51G	p.D76G	NM_173528	NP_775799	Q6P656	CO026_HUMAN			2	254	+			76					Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	c.227A>G	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	A	0.115	-1.133244	0.01756	.	.	ENSG00000156206	ENST00000286732;ENST00000398681	T	0.45276	0.9	5.31	2.84	0.33178	.	0.540943	0.21465	N	0.074095	T	0.28267	0.0698	L	0.42245	1.32	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.25813	-1.0121	10	0.06891	T	0.86	-11.8828	8.3292	0.32175	0.7754:0.1435:0.0811:0.0	.	76	Q6P656	CO026_HUMAN	G	76;51	ENSP00000286732:D76G	ENSP00000286732:D76G	D	+	2	0	C15orf26	79215979	0.001000	0.12720	0.006000	0.13384	0.005000	0.04900	0.498000	0.22530	0.866000	0.35629	0.528000	0.53228	GAT		0.408	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		G	81428924	A	G	81428924	3	3	58	1	0	0	0	0	1	0	0	0	1787	333	12	4	237	4	C15orf26	15	81428924	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	583914	81428924	21102468	63	3760											
PAQR4	124222	broad.mit.edu	37	chr16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggctacactgtgttgtCgggtgtggccggctggcgtg	2	11	20	8	3	0	0	0	0	0	0	1	0	0	0	1	6	1	3	1	6	1	2	rs367647268		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:3021597C>T	ENST00000318782.8	+	3	900	c.470C>T	c.(469-471)tCg>tTg	p.S157L	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000574988.1_Missense_Mutation_p.S90L|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.S118L|PAQR4_ENST00000572687.1_Missense_Mutation_p.S83L|PAQR4_ENST00000576565.1_Missense_Mutation_p.S90L	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	157						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTGTGTTGTCGGGTGTGGCC	0.687																																						uc002csj.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(469-471)tCg>tTg		Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.		C	LEU/SER	1,4353		0,1,2176	38	43	42		470	4.3	0	16		42	0,8552		0,0,4276	no	missense	PAQR4	NM_152341.3	145	0,1,6452	TT,TC,CC		0.0,0.023,0.0077	probably-damaging	157/274	3021597	1,12905	2177	4276	6453	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021597C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.470C>T	16.37:g.3021597C>T	ENSP00000321804:p.Ser157Leu					PAQR4_uc002csk.4_Missense_Mutation_p.S118L|PAQR4_uc002csl.4_Missense_Mutation_p.S83L|PAQR4_uc010uwm.2_Missense_Mutation_p.S88L	p.S157L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			2	804	+			157					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.470C>T	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.178820	0.57692	2.3E-4	0.0	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.21932	1.98	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.34483	0.0899	M	0.66297	2.02	0.80722	D	1	D;P;P	0.62365	0.991;0.939;0.951	P;P;P	0.51895	0.538;0.477;0.683	T	0.25606	-1.0127	10	0.87932	D	0	-9.7868	14.3666	0.66810	0.0:1.0:0.0:0.0	.	82;118;157	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	L	157;83	ENSP00000321804:S157L	ENSP00000293978:S83L	S	+	2	0	PAQR4	2961598	0.917000	0.31117	0.031000	0.17742	0.194000	0.23727	2.385000	0.44371	2.228000	0.72767	0.450000	0.29827	TCG		0.687	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		T	3021597	C	T	3021597	3	4	58	1	0	0	0	0	1	0	0	0	11437	893	31	2	480	2	PAQR4	16	3021597	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		3021597	87333156	64	3761											
MYH11	4629	broad.mit.edu	37	chr16	15841499	15841499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcaaatctcgctccTcctctaggtgggccaggacg	7	11	10	13	2	4	1	1	1	3	0	7	2	6	2	3	3	0	1	3	3	2	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:15841499T>C	ENST00000300036.5	-	19	2448	c.2339A>G	c.(2338-2340)gAg>gGg	p.E780G	MYH11_ENST00000452625.2_Missense_Mutation_p.E787G|MYH11_ENST00000576790.2_Missense_Mutation_p.E780G|MYH11_ENST00000396324.3_Missense_Mutation_p.E787G	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	780	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTCGCTCCTCCTCTAGGTG	0.498			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0		p.I786T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2359-2361)gAg>gGg		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							109	101	104					16																	15841499		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841499T>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2339A>G	16.37:g.15841499T>C	ENSP00000300036:p.Glu780Gly					MYH11_uc002ddv.3_Missense_Mutation_p.E787G|MYH11_uc002ddw.3_Missense_Mutation_p.E780G|MYH11_uc002ddy.3_Missense_Mutation_p.E780G|MYH11_uc010bvg.3_Missense_Mutation_p.E612G	p.E787G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			19	2467	-			780			IQ.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2360A>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589328	0.86851	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.46	5.46	0.80206	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90000	0.4114	10	0.87932	D	0	.	14.7206	0.69302	0.0:0.0:0.0:1.0	.	787;780;787;780;787	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	G	780;780;787;787;787	ENSP00000300036:E780G;ENSP00000345136:E780G;ENSP00000379616:E787G;ENSP00000407821:E787G	ENSP00000300036:E780G	E	-	2	0	MYH11	15749000	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.040000	0.89188	2.075000	0.62263	0.459000	0.35465	GAG		0.498	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		C	15841499	T	C	15841499	3	2	58	1	0	0	0	0	1	0	0	0	10031	1551	54	4	3706	4	MYH11	16	15841499	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	12819902	15841499	74513254	65	3762											
RBBP6	5930	broad.mit.edu	37	chr16	24582927	24582927	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcatctggacagaaaaatAaaccaagggaagagagagat	19	5	11	6	0	1	3	0	0	1	3	1	7	1	5	1	2	2	1	1	2	6	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:24582927A>C	ENST00000319715.4	+	18	4972	c.4540A>C	c.(4540-4542)Aaa>Caa	p.K1514Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.K1480Q|RBBP6_ENST00000381039.3_Missense_Mutation_p.K674Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1514	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACAGAAAAATAAACCAAGGGA	0.368																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4540-4542)Aaa>Caa		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.							41	41	41					16																	24582927		2196	4297	6493	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582927A>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4540A>C	16.37:g.24582927A>C	ENSP00000317872:p.Lys1514Gln					RBBP6_uc002dmi.3_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.3_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.3_Missense_Mutation_p.K1347Q	p.K1514Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	5580	+			1514			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4540A>C	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016021	0.54468	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.21031	2.03;2.34;2.32	6.03	6.03	0.97812	.	0.147172	0.47093	D	0.000256	T	0.23492	0.0568	L	0.32530	0.975	0.31794	N	0.629324	D;P;P	0.53312	0.959;0.835;0.745	P;P;B	0.48030	0.564;0.466;0.276	T	0.07770	-1.0755	10	0.25751	T	0.34	-14.8675	16.5724	0.84622	1.0:0.0:0.0:0.0	.	674;1480;1514	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	Q	674;1514;1480	ENSP00000370427:K674Q;ENSP00000317872:K1514Q;ENSP00000316291:K1480Q	ENSP00000317872:K1514Q	K	+	1	0	RBBP6	24490428	1.000000	0.71417	0.900000	0.35374	0.894000	0.52154	5.151000	0.64875	2.313000	0.78055	0.455000	0.32223	AAA		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24582927	A	C	24582927	3	2	58	1	0	0	0	0	1	0	0	0	13103	363	13	5	4664	5	RBBP6	16	24582927	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	8741428	24582927	65771826	66	3763											
RNF40	9810	broad.mit.edu	37	chr16	30774800	30774800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggggagctgtcttcagCgcctgaggcacctgggaccc	6	6	15	14	1	2	1	1	1	1	0	2	3	2	3	4	4	2	2	4	4	0	1	rs199734395		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:30774800C>A	ENST00000324685.6	+	4	797	c.362C>A	c.(361-363)gCg>gAg	p.A121E	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.A121E|RNF40_ENST00000563683.1_Missense_Mutation_p.A121E|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	121					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGTCTTCAGCGCCTGAGGCA	0.562																																						uc002dzq.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(361-363)gCg>gAg		Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.							61	62	62					16																	30774800		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774800C>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.362C>A	16.37:g.30774800C>A	ENSP00000325677:p.Ala121Glu					C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.A121E|RNF40_uc010cab.3_Missense_Mutation_p.A121E|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.A121E	p.A121E	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		3	1182	+			121					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.362C>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365885	0.01235	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.28255	1.62;1.63	5.84	3.89	0.44902	.	0.263550	0.36338	N	0.002652	T	0.22205	0.0535	L	0.44542	1.39	0.49130	D	0.999757	B;B;B	0.16802	0.019;0.001;0.001	B;B;B	0.17433	0.018;0.001;0.005	T	0.04650	-1.0936	10	0.08179	T	0.78	-44.319	9.7898	0.40699	0.0:0.2928:0.5611:0.1461	.	121;121;121	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	E	121	ENSP00000325677:A121E;ENSP00000350563:A121E	ENSP00000325677:A121E	A	+	2	0	RNF40	30682301	0.032000	0.19561	0.992000	0.48379	0.319000	0.28217	0.804000	0.27098	0.818000	0.34468	-1.274000	0.01402	GCG		0.562	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30774800	C	A	30774800	3	1	58	1	0	0	0	0	1	0	0	0	13493	768	27	5	372	5	RNF40	16	30774800	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	6191873	30774800	59579953	67	3764											
ZNF23	7571	broad.mit.edu	37	chr16	71483233	71483233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggaactgtagctgaagCttttcccacactccacacat	12	10	7	12	0	0	1	0	1	0	0	2	2	2	2	2	1	3	3	2	1	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:71483233C>A	ENST00000393539.2	-	6	1508	c.695G>T	c.(694-696)aGc>aTc	p.S232I	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.S232I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.S232I|ZNF23_ENST00000564528.1_Missense_Mutation_p.S174I|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.S174I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTAGCTGAAGCTTTTCCCACA	0.448																																						uc002faf.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(694-696)aGc>aTc		Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.							128	121	123					16																	71483233		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483233C>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.695G>T	16.37:g.71483233C>A	ENSP00000377171:p.Ser232Ile					ZNF23_uc002fah.3_Missense_Mutation_p.S232I|ZNF23_uc002fad.3_Missense_Mutation_p.S174I|ZNF23_uc010vmf.2_Missense_Mutation_p.S174I|ZNF23_uc002fag.3_Missense_Mutation_p.S174I|ZNF23_uc002fai.3_Missense_Mutation_p.S271I	p.S232I	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	5	1509	-		Ovarian(137;0.00768)	232					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.695G>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886518	0.51908	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	3.7	3.7	0.42460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.142158	0.33005	N	0.005394	T	0.33614	0.0869	M	0.83223	2.63	0.24098	N	0.995888	P;P	0.50156	0.932;0.778	P;B	0.49999	0.628;0.314	T	0.28808	-1.0032	10	0.87932	D	0	-4.5484	7.274	0.26273	0.0:0.8829:0.0:0.1171	.	232;232	B3KR55;P17027	.;ZNF23_HUMAN	I	232;232;232;174;174;32	ENSP00000377171:S232I;ENSP00000349796:S232I;ENSP00000395712:S232I;ENSP00000387673:S174I	ENSP00000349796:S232I	S	-	2	0	ZNF23	70040734	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.839000	0.27586	2.371000	0.80710	0.561000	0.74099	AGC		0.448	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		A	71483233	C	A	71483233	3	1	58	1	0	0	0	0	1	0	0	0	17780	797	28	5	1240	5	ZNF23	16	71483233	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	40708433	71483233	18871520	68	3765											
SMARCD2	6603	broad.mit.edu	37	chr17	61912798	61912798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagttttccttccactcGgagttcccaggaagccacct	8	10	8	15	1	0	0	0	0	0	0	4	2	3	2	5	2	2	3	5	2	1	4	rs367946883		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:61912798G>A	ENST00000448276.2	-	5	962	c.697C>T	c.(697-699)Cga>Tga	p.R233*	SMARCD2_ENST00000225742.9_Nonsense_Mutation_p.R158*|SMARCD2_ENST00000323347.10_Nonsense_Mutation_p.R185*	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	233					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CCTTCCACTCGGAGTTCCCAG	0.572																																						uc010deb.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(697-699)Cga>Tga		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.							58	61	60					17																	61912798		1880	4118	5998	SO:0001587	stop_gained	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61912798G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.697C>T	17.37:g.61912798G>A	ENSP00000392617:p.Arg233*					SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*	p.R233*	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN			4	1014	-			233					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Nonsense_Mutation	SNP	ENST00000448276.2	37	c.697C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.543441	0.65198	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.18	15.8147	0.78592	0.0:0.0:1.0:0.0	.	.	.	.	X	233;175;196;185	.	ENSP00000225742:R175X	R	-	1	2	SMARCD2	59266530	0.999000	0.42202	1.000000	0.80357	0.543000	0.35085	2.708000	0.47152	2.600000	0.87896	0.655000	0.94253	CGA		0.572	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		A	61912798	G	A	61912798	4	1	58	1	0	0	0	0	0	1	0	0	14778	1124	39	2	934	2	SMARCD2	17	61912798	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		61912798	19282412	69	3766											
ABCA8	10351	broad.mit.edu	37	chr17	66928560	66928560	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaaaaggtacaaatcAgttataactcctgattgacc	17	9	7	8	0	1	2	1	2	0	0	2	3	2	3	2	2	2	2	2	2	7	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:66928560A>T	ENST00000269080.2	-	6	803	c.666T>A	c.(664-666)acT>acA	p.T222T	ABCA8_ENST00000586539.1_Silent_p.T222T|ABCA8_ENST00000430352.2_Silent_p.T222T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	222					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTACAAATCAGTTATAACTC	0.363																																						uc002jhq.3																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(664-666)acT>acA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.							111	104	106					17																	66928560		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928560A>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.666T>A	17.37:g.66928560A>T						ABCA8_uc002jhp.3_Silent_p.T222T|ABCA8_uc010wqq.2_Silent_p.T222T|ABCA8_uc010wqr.2_Silent_p.T161T|ABCA8_uc002jhr.3_Silent_p.T222T|ABCA8_uc002jhs.3_Silent_p.T222T|ABCA8_uc002jht.3_Silent_p.T222T	p.T222T	NM_007168	NP_009099	O94911	ABCA8_HUMAN			6	1006	-	Breast(10;4.56e-13)		222					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.666T>A	CCDS11680.1																																																																																				0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		T	66928560	A	T	66928560	2	4	58	1	0	0	0	0	0	0	0	1	38	175	7	5		5	ABCA8	17	66928560	Silent	SNP	A	TCGA-06-0686-01A-01W-0348-08	5015762	66928560	14266650	70	3767											
CD7	924	broad.mit.edu	37	chr17	80274786	80274786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatcccacgcaggccccCgctggtggagcaggtgatgt	7	7	15	12	2	0	2	0	1	0	1	1	3	1	3	3	4	1	4	3	4	1	1	rs536476554	byFrequency	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:80274786C>A	ENST00000312648.3	-	2	260	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	CD7_ENST00000584284.1_Missense_Mutation_p.G52W|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	52	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGCAGGCCCCCGCTGGTGGAG	0.647																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1																			0		p.S51S(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(154-156)Ggg>Tgg		Homo sapiens CD7 molecule (CD7), mRNA.							44	46	45					17																	80274786		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274786C>A	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.154G>T	17.37:g.80274786C>A	ENSP00000312027:p.Gly52Trp					CD7_uc010din.3_Missense_Mutation_p.G52W|CD7_uc010wvk.1_Missense_Mutation_p.G52W	p.G52W	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		1	263	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		52			Ig-like.			Missense_Mutation	SNP	ENST00000312648.3	37	c.154G>T	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857958	0.17178	.	.	ENSG00000173762	ENST00000312648	T	0.51071	0.72	3.09	0.951	0.19579	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216712	0.23819	N	0.044260	T	0.65554	0.2702	M	0.87456	2.885	0.18873	N	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54255	-0.8321	10	0.87932	D	0	-10.6751	5.0979	0.14742	0.0:0.4503:0.4232:0.1265	.	52;52;52	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	W	52	ENSP00000312027:G52W	ENSP00000312027:G52W	G	-	1	0	CD7	77868075	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.660000	0.05317	0.299000	0.22661	0.313000	0.20887	GGG		0.647	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		A	80274786	C	A	80274786	3	1	58	1	0	0	0	0	1	0	0	0	3032	652	23	5	580	5	CD7	17	80274786	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	13346226	80274786	920424	71	3768											
MUC16	94025	broad.mit.edu	37	chr19	9015333	9015333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacctgagcaaggtcagtCtgcagccagagtacagaggg	11	6	13	11	0	3	3	2	1	1	2	3	3	3	3	2	2	4	3	2	2	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:9015333C>T	ENST00000397910.4	-	30	38458	c.38255G>A	c.(38254-38256)aGa>aAa	p.R12752K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12754	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGTCAGTCTGCAGCCAGA	0.517																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38254-38256)aGa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							139	118	125					19																	9015333		1972	4154	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015333C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38255G>A	19.37:g.9015333C>T	ENSP00000381008:p.Arg12752Lys					MUC16_uc021uog.1_5'Flank	p.R12752K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			29	38459	-			12754	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38255G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.703	0.910287	0.17833	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	2.82	0.504	0.16946	.	.	.	.	.	T	0.32194	0.0821	M	0.72894	2.215	.	.	.	D	0.64830	0.994	P	0.57620	0.824	T	0.39354	-0.9618	8	0.87932	D	0	.	3.4351	0.07442	0.0:0.5615:0.2754:0.163	.	12752	B5ME49	.	K	12752	ENSP00000381008:R12752K	ENSP00000381008:R12752K	R	-	2	0	MUC16	8876333	0.056000	0.20664	0.149000	0.22428	0.018000	0.09664	0.028000	0.13644	0.452000	0.26830	0.305000	0.20034	AGA		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9015333	C	T	9015333	3	4	58	1	0	0	0	0	1	0	0	0	9973	913	32	3	5488	3	MUC16	19	9015333	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		9015333	50113650	72	3769											
CYP4F3	4051	broad.mit.edu	37	chr19	15758065	15758065	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccgtcggatgctgacGcctgccttccatttcaacat	7	10	8	16	4	1	1	1	1	0	0	3	2	2	2	5	1	3	1	5	1	1	2	rs138865516		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:15758065G>A	ENST00000221307.8	+	5	503	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F3_ENST00000591058.1_Silent_p.T152T|CYP4F3_ENST00000586182.2_Silent_p.T152T|CYP4F3_ENST00000585846.1_Silent_p.T152T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	152					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGATGCTGACGCCTGCCTTCC	0.552																																						uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(454-456)acG>acA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.		G	,,	0,4406		0,0,2203	82	87	85		456,456,456	-2.7	1	19	dbSNP_134	85	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	152/521,152/521,152/521	15758065	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15758065G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.456G>A	19.37:g.15758065G>A						CYP4F3_uc010xol.2_Silent_p.T152T|CYP4F3_uc002nbj.3_Silent_p.T152T|CYP4F3_uc010xom.2_Silent_p.T3T|CYP4F3_uc002nbk.3_Silent_p.T152T|CYP4F3_uc010xon.2_5'Flank	p.T152T	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			4	506	+			152					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.456G>A	CCDS12332.1																																																																																				0.552	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15758065	G	A	15758065	2	1	58	1	0	0	0	0	0	0	0	1	4190	1074	38	1		1	CYP4F3	19	15758065	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	6742732	15758065	43370918	73	3770											
ZNF493	284443	broad.mit.edu	37	chr19	21606980	21606980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcaacccttagtataCataaaataattcatactgga	17	13	3	8	0	3	0	2	0	1	0	3	1	3	1	1	1	3	1	1	1	9	8			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:21606980C>T	ENST00000355504.4	+	2	1401	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	ZNF493_ENST00000392288.2_Missense_Mutation_p.H507Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTAGTATACATAAAATAAT	0.328																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1519-1521)Cat>Tat		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							29	33	31					19																	21606980		2182	4281	6463	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606980C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1135C>T	19.37:g.21606980C>T	ENSP00000347691:p.His379Tyr					ZNF493_uc002npx.3_Missense_Mutation_p.H379Y|ZNF493_uc002npy.3_Missense_Mutation_p.H379Y|ZNF493_uc021urq.1_Missense_Mutation_p.H379Y	p.H507Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN			3	1638	+			379					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1519C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	10.69	1.420068	0.25552	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.86769	-2.17;-2.17	1.05	-0.38	0.12490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94221	0.8145	H	0.96430	3.82	0.19575	N	0.999961	D;D	0.89917	1.0;0.992	D;D	0.97110	1.0;0.969	D	0.85359	0.1106	9	0.87932	D	0	.	6.2278	0.20718	0.0:0.8084:0.0:0.1916	.	379;507	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	507;379	ENSP00000376110:H507Y;ENSP00000347691:H379Y	ENSP00000347691:H379Y	H	+	1	0	ZNF493	21398820	0.872000	0.30054	0.001000	0.08648	0.001000	0.01503	2.398000	0.44486	-0.372000	0.07992	-0.364000	0.07487	CAT		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		T	21606980	C	T	21606980	3	4	58	1	0	0	0	0	1	0	0	0	17941	478	17	3	1596	3	ZNF493	19	21606980	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	5848915	21606980	37522003	74	3771											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733609	56733609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcttctctctccacaaCgcaggcagaaggtgtgtcag	10	8	11	12	2	3	1	1	0	2	1	5	2	3	1	1	2	2	3	1	2	3	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:56733609C>T	ENST00000587340.1	-	7	1521	c.826G>A	c.(826-828)Gtt>Att	p.V276I	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.V130I|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V276I|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V275I|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.V159I			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	276					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTCCACAACGCAGGCAGAA	0.527																																						uc002qmq.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(826-828)Gtt>Att		Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.							110	110	110					19																	56733609		2203	4298	6501	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733609C>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.826G>A	19.37:g.56733609C>T	ENSP00000467631:p.Val276Ile					ZSCAN5A_uc010ygi.2_Missense_Mutation_p.V159I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V276I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V275I	p.V276I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			4	992	-			276					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.826G>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734289	0.15574	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06068	3.36;3.35	1.94	-1.24	0.09435	.	.	.	.	.	T	0.03915	0.0110	L	0.31752	0.955	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.12156	0.007;0.004	T	0.48127	-0.9062	9	0.12766	T	0.61	.	5.8157	0.18492	0.0:0.3609:0.0:0.6391	.	159;276	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	I	276;159	ENSP00000375593:V276I;ENSP00000254165:V159I	ENSP00000254165:V159I	V	-	1	0	ZSCAN5A	61425421	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.609000	0.02066	-0.245000	0.09625	0.561000	0.74099	GTT		0.527	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		T	56733609	C	T	56733609	3	4	58	1	0	0	0	0	1	0	0	0	18235	536	19	1	668	1	ZSCAN5A	19	56733609	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	35126629	56733609	2395374	75	3772											
GRIK1	2897	broad.mit.edu	37	chr21	31023612	31023612	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccaaagcaaataagtcCtgcatagtatcaaaaaggat	19	8	7	7	0	1	1	1	0	0	1	3	2	3	2	2	1	2	3	2	1	7	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:31023612C>T	ENST00000399907.1	-	6	1192		c.e6-1		GRIK1_ENST00000399913.1_Splice_Site|GRIK1_ENST00000309434.7_Splice_Site|GRIK1_ENST00000389125.3_Splice_Site|GRIK1_ENST00000399909.1_Splice_Site|GRIK1_ENST00000399914.1_Splice_Site|GRIK1_ENST00000472429.1_Splice_Site|GRIK1_ENST00000535441.1_Splice_Site|GRIK1_ENST00000389124.2_Splice_Site|GRIK1_ENST00000327783.4_Splice_Site	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CAAATAAGTCCTGCATAGTAT	0.353																																						uc002yno.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.e6-1		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						51	44	47					21																	31023612		2203	4300	6503	SO:0001630	splice_region_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023612C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.781-1G>A	21.37:g.31023612C>T						GRIK1_uc002ynn.3_Splice_Site_p.D261_splice|GRIK1_uc011acs.2_Splice_Site_p.D261_splice|GRIK1_uc011act.2_Splice_Site_p.D205_splice|GRIK1_uc010glq.1_Splice_Site_p.D119_splice|GRIK1_uc002ynr.3_Splice_Site_p.D261_splice	p.D261_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN			6	1245	-			261					Q13001|Q86SU9	Splice_Site	SNP	ENST00000399907.1	37	c.781_splice	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612087	0.46631	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.351	0.90338	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK1	29945483	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	5.561000	0.67339	2.718000	0.92993	0.655000	0.94253	.		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		Intron	T	31023612	C	T	31023612	5	4	58	1	0	0	0	0	0	0	1	0	6773	695	24	3	2184	3	GRIK1	21	31023612	Splice_Site	SNP	C	TCGA-06-0686-01A-01W-0348-08		31023612	17106283	76	3773											
CBS	875	broad.mit.edu	37	chr21	44478273	44478273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtttgaactgcttgtaGatgactttgccaacttggtc	8	15	9	9	0	0	3	0	2	0	1	1	3	0	3	2	1	4	3	2	1	3	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:44478273G>C	ENST00000398165.3	-	15	1708	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	CBS_ENST00000544202.1_Missense_Mutation_p.I395M|CBS_ENST00000359624.3_Missense_Mutation_p.I483M|CBS_ENST00000352178.5_Missense_Mutation_p.I483M|CBS_ENST00000398168.1_Missense_Mutation_p.I483M|CBS_ENST00000398158.1_Missense_Mutation_p.I483M	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	483					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACTGCTTGTAGATGACTTTGC	0.567																																						uc002zcu.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(1447-1449)atC>atG		Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						223	158	180					21																	44478273		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44478273G>C	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1449C>G	21.37:g.44478273G>C	ENSP00000381231:p.Ile483Met					CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M	p.I483M	NM_000071	NP_001171480	P35520	CBS_HUMAN			14	1694	-			483					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.1449C>G	CCDS13693.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.839|0.839|0.839	-0.742598|-0.742598|-0.742598	0.03088|0.03088|0.03088	.|.|.	.|.|.	ENSG00000160200|ENSG00000160200|ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202|ENST00000451248|ENST00000458223;ENST00000430013	D;D;D;D;D;D|.|.	0.93953|.|.	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32|.|.	4.62|4.62|4.62	3.71|3.71|3.71	0.42584|0.42584|0.42584	.|.|.	0.364502|.|.	0.28742|.|.	N|.|.	0.014285|.|.	T|T|T	0.43875|0.43875|0.43875	0.1267|0.1267|0.1267	N|N|N	0.20685|0.20685|0.20685	0.6|0.6|0.6	0.34871|0.34871|0.34871	D|D|D	0.743629|0.743629|0.743629	B;B;B|.|.	0.15930|.|.	0.005;0.015;0.007|.|.	B;B;B|.|.	0.17722|.|.	0.007;0.019;0.007|.|.	T|T|T	0.52102|0.52102|0.52102	-0.8620|-0.8620|-0.8620	10|5|5	0.02654|.|.	T|.|.	1|.|.	-18.2991|-18.2991|-18.2991	14.1733|14.1733|14.1733	0.65525|0.65525|0.65525	0.0:0.1512:0.8488:0.0|0.0:0.1512:0.8488:0.0|0.0:0.1512:0.8488:0.0	.|.|.	483;483;440|.|.	P35520-2;P35520;B7Z2D6|.|.	.;CBS_HUMAN;.|.|.	M|V|C	483;483;483;483;483;440;395|67|71;137	ENSP00000381225:I483M;ENSP00000381231:I483M;ENSP00000352643:I483M;ENSP00000344460:I483M;ENSP00000381234:I483M;ENSP00000439332:I395M|.|.	ENSP00000344460:I483M|.|.	I|L|S	-|-|-	3|1|2	3|2|0	CBS|CBS|CBS	43351342|43351342|43351342	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.653000|0.653000|0.653000	0.38743|0.38743|0.38743	2.357000|2.357000|2.357000	0.44125|0.44125|0.44125	0.908000|0.908000|0.908000	0.36671|0.36671|0.36671	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	ATC|CTA|TCT		0.567	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		C	44478273	G	C	44478273	3	2	58	1	0	0	0	0	1	0	0	0	2711	932	33	5	218	5	CBS	21	44478273	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	13454661	44478273	3651622	77	3774											
BMP15	9210	broad.mit.edu	37	chrX	50659431	50659431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgcgatggtctcaattccCccaatcacgccattattcag	10	11	6	14	3	3	0	3	0	1	0	5	1	4	0	3	1	1	0	3	1	4	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:50659431C>A	ENST00000252677.3	+	2	1003	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	335					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCAATTCCCCCAATCACGC	0.502																																						uc011mnw.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(1003-1005)Ccc>Acc		Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.							137	118	125					X																	50659431		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659431C>A	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1003C>A	X.37:g.50659431C>A	ENSP00000252677:p.Pro335Thr						p.P335T	NM_005448	NP_005439	O95972	BMP15_HUMAN			1	1052	+	Ovarian(276;0.236)		335					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1003C>A	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.138055	0.37728	.	.	ENSG00000130385	ENST00000252677	D	0.87179	-2.22	5.58	4.71	0.59529	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	N	0.20610	0.595	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.80701	-0.1265	10	0.02654	T	1	.	12.6196	0.56595	0.1666:0.8334:0.0:0.0	.	335	O95972	BMP15_HUMAN	T	335	ENSP00000252677:P335T	ENSP00000252677:P335T	P	+	1	0	BMP15	50676171	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	5.806000	0.69150	1.110000	0.41699	0.594000	0.82650	CCC		0.502	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		A	50659431	C	A	50659431	3	1	58	1	0	0	0	0	1	0	0	0	1458	623	22	5	1009	5	BMP15	23	50659431	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		50659431	104611129	78	3775											
BCORL1	63035	broad.mit.edu	37	chrX	129162640	129162640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgtaagcagaagacttcctCctcccaaagtttggagcacc	11	8	8	14	1	0	2	0	0	0	2	3	3	3	3	5	1	2	4	5	1	3	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:129162640C>T	ENST00000218147.7	+	8	4306	c.4109C>T	c.(4108-4110)tCc>tTc	p.S1370F	BCORL1_ENST00000540052.1_Missense_Mutation_p.S1370F|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1240F|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1370F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1370					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGACTTCCTCCTCCCAAAGT	0.483											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4108-4110)tCc>tTc		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							121	128	126					X																	129162640		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129162640C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4109C>T	X.37:g.129162640C>T	ENSP00000218147:p.Ser1370Phe		OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1570	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.2_Missense_Mutation_p.S132F	p.S1370F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			6	4153	+			1370					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4109C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647563	0.87958	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.41065	1.02;1.38;1.01;1.02;1.44	5.89	5.89	0.94794	.	0.449907	0.16644	N	0.205516	T	0.45558	0.1348	N	0.08118	0	0.47374	D	0.999406	P;D;D	0.71674	0.936;0.993;0.998	P;P;D	0.63488	0.735;0.906;0.915	T	0.55386	-0.8149	10	0.59425	D	0.04	.	17.8106	0.88614	0.0:1.0:0.0:0.0	.	1240;1370;1370	Q5H9F3-2;Q5H9F3-3;Q5H9F3	.;.;BCORL_HUMAN	F	1370;1370;1240;1370;970	ENSP00000218147:S1370F;ENSP00000307541:S1370F;ENSP00000352253:S1240F;ENSP00000437775:S1370F;ENSP00000399483:S970F	ENSP00000218147:S1370F	S	+	2	0	BCORL1	128990321	0.291000	0.24352	1.000000	0.80357	0.885000	0.51271	2.604000	0.46274	2.480000	0.83734	0.600000	0.82982	TCC		0.483	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129162640	C	T	129162640	3	4	58	1	0	0	0	0	1	0	0	0	1387	855	30	3	4135	3	BCORL1	23	129162640	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	78503209	129162640	26107920	79	3776											
ARHGEF16	27237	broad.mit.edu	37	chr1	3389688	3389688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaggcccaggtgctggtcGaggacatcagtgacatcctg	10	7	13	11	1	1	1	1	1	0	0	3	3	2	2	2	4	1	1	2	4	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:3389688G>A	ENST00000378378.4	+	7	1474	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E61K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E69K|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E69K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGTGCTGGTCGAGGACATCAG	0.632																																						uc001akg.4																			0				lung(6)|ovary(1)	7						c.(1069-1071)Gag>Aag		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.							136	99	111					1																	3389688		2203	4300	6503	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3389688G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1069G>A	1.37:g.3389688G>A	ENSP00000367629:p.Glu357Lys					ARHGEF16_uc001aki.3_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E61K	p.E357K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	6	1317	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	357			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1069G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258072	0.39896	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.38	2.39	0.29439	Dbl homology (DH) domain (5);	0.397034	0.23382	N	0.048790	T	0.43033	0.1229	L	0.36672	1.1	0.35574	D	0.805743	P;P;P	0.45011	0.661;0.848;0.661	B;B;B	0.40782	0.227;0.34;0.227	T	0.44467	-0.9326	10	0.15066	T	0.55	-36.6254	4.6873	0.12764	0.0929:0.1927:0.5829:0.1315	.	61;61;357	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	K	357;69;69;69;61;61	ENSP00000367629:E357K;ENSP00000367624:E69K;ENSP00000367622:E69K;ENSP00000411936:E69K;ENSP00000390853:E61K;ENSP00000408887:E61K	ENSP00000367622:E69K	E	+	1	0	ARHGEF16	3379548	0.087000	0.21565	1.000000	0.80357	0.966000	0.64601	0.544000	0.23253	2.274000	0.75844	0.561000	0.74099	GAG		0.632	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3389688	G	A	3389688	3	1	59	1	0	0	0	0	1	0	0	0	899	1059	37	2	1091	2	ARHGEF16	1	3389688	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		3389688	245860933	1	3777											
MAST2	23139	broad.mit.edu	37	chr1	46500629	46500629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctcgcaagcacagcCttgacctgccccactctgaa	9	8	6	18	1	2	2	0	2	2	0	3	2	2	2	5	0	3	2	5	0	2	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:46500629C>T	ENST00000361297.2	+	29	4571	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	MAST2_ENST00000372009.2_Missense_Mutation_p.L1240F	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCACAGCCTTGACCTGCC	0.592																																						uc001cov.3																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(4288-4290)Ctt>Ttt		Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.							48	53	51					1																	46500629		2048	4193	6241	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500629C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4288C>T	1.37:g.46500629C>T	ENSP00000354671:p.Leu1430Phe					MAST2_uc001cow.3_Missense_Mutation_p.L1429F|MAST2_uc001cpa.3_Non-coding_Transcript	p.L1430F	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			28	4571	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1430						Missense_Mutation	SNP	ENST00000361297.2	37	c.4288C>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	c	17.84	3.487369	0.63962	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.75704	-0.92;-0.96	4.71	4.71	0.59529	.	0.171581	0.39341	N	0.001397	T	0.77471	0.4135	L	0.32530	0.975	0.33423	D	0.58009	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.976	T	0.82010	-0.0669	10	0.72032	D	0.01	-15.5512	9.3263	0.37995	0.0:0.8692:0.0:0.1308	.	1240;1430	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	F	1430;1240	ENSP00000354671:L1430F;ENSP00000361079:L1240F	ENSP00000354671:L1430F	L	+	1	0	MAST2	46273216	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	1.848000	0.39309	2.602000	0.87976	0.558000	0.71614	CTT		0.592	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46500629	C	T	46500629	3	4	59	1	0	0	0	0	1	0	0	0	9325	681	24	3	4402	3	MAST2	1	46500629	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	43110941	46500629	202749992	2	3778											
CC2D1B	200014	broad.mit.edu	37	chr1	52820329	52820329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagccgctccagtttcAggtgtgctgtgccaaccagc	6	10	10	15	1	2	0	1	0	1	0	4	0	3	0	5	1	5	3	5	1	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:52820329A>G	ENST00000371586.2	-	23	2537	c.2399T>C	c.(2398-2400)cTg>cCg	p.L800P	CC2D1B_ENST00000438831.1_Missense_Mutation_p.L175P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.L794P|RP11-155O18.6_ENST00000606527.1_RNA	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	800						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAGTTTCAGGTGTGCTGT	0.567																																						uc001ctq.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2398-2400)cTg>cCg		Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.							126	115	119					1																	52820329		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52820329A>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2399T>C	1.37:g.52820329A>G	ENSP00000360642:p.Leu800Pro					CC2D1B_uc001ctr.3_Missense_Mutation_p.L340P|CC2D1B_uc001cts.3_Missense_Mutation_p.L485P	p.L800P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			22	2550	-			800					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.2399T>C	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.242843|5.242843	0.95272|0.95272	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831|ENST00000438021;ENST00000450942	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	5.65|5.65	5.65|5.65	0.86999|0.86999	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.081068|.	0.50627|.	D|.	0.000117|.	T|.	0.61961|.	0.2389|.	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.999;0.998|.	D;D;D|.	0.71184|.	0.915;0.972;0.938|.	T|.	0.58171|.	-0.7683|.	10|.	0.87932|.	D|.	0|.	-2.922|-2.922	16.0399|16.0399	0.80667|0.80667	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	580;794;800|.	Q5T0G1;Q5T0F9-2;Q5T0F9|.	.;.;C2D1B_HUMAN|.	P|R	800;794;708;175|581;714	ENSP00000360642:L800P;ENSP00000284376:L794P;ENSP00000406300:L175P|.	ENSP00000284376:L794P|.	L|X	-|-	2|1	0|0	CC2D1B|CC2D1B	52592917|52592917	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	8.442000|8.442000	0.90317|0.90317	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.567	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		G	52820329	A	G	52820329	3	3	59	1	0	0	0	0	1	0	0	0	2727	188	7	4	185	4	CC2D1B	1	52820329	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08	6319700	52820329	196430292	3	3779											
PIAS3	10401	broad.mit.edu	37	chr1	145584562	145584562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggggatttcctgtccaGtctcccactacatgagtacc	7	11	11	12	0	1	1	0	1	1	0	4	2	3	2	4	3	2	1	4	3	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:145584562G>A	ENST00000393045.2	+	12	1619	c.1529G>A	c.(1528-1530)aGt>aAt	p.S510N	PIAS3_ENST00000369298.1_Missense_Mutation_p.S475N|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	510					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGTCCAGTCTCCCACTA	0.592																																						uc001eoc.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1528-1530)aGt>aAt		Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.							144	137	139					1																	145584562		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584562G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1529G>A	1.37:g.145584562G>A	ENSP00000376765:p.Ser510Asn					PIAS3_uc001eod.1_Missense_Mutation_p.S179N	p.S510N	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			11	1620	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		510					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1529G>A	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119205	0.56505	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.34667	1.35;1.35	6.05	4.09	0.47781	.	0.144118	0.47455	D	0.000239	T	0.16342	0.0393	L	0.36672	1.1	0.80722	D	1	B	0.27498	0.18	B	0.22152	0.038	T	0.03750	-1.1007	10	0.66056	D	0.02	-1.2114	14.5309	0.67926	0.0:0.2794:0.7206:0.0	.	510	Q9Y6X2	PIAS3_HUMAN	N	510;475	ENSP00000376765:S510N;ENSP00000358304:S475N	ENSP00000358304:S475N	S	+	2	0	PIAS3	144295919	0.441000	0.25626	0.909000	0.35828	0.991000	0.79684	1.406000	0.34646	0.809000	0.34255	0.650000	0.86243	AGT		0.592	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		A	145584562	G	A	145584562	3	1	59	1	0	0	0	0	1	0	0	0	11877	1029	36	3	1575	3	PIAS3	1	145584562	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	92764233	145584562	103666059	4	3780											
FLG	2312	broad.mit.edu	37	chr1	152286200	152286200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctgctgactgctggtGgccggatccatgtctttctc	3	14	12	12	1	3	1	0	1	3	0	5	2	4	2	2	3	2	3	2	3	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152286200G>T	ENST00000368799.1	-	3	1197	c.1162C>A	c.(1162-1164)Cac>Aac	p.H388N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	388	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTGGTGGCCGGATCCA	0.577									Ichthyosis																													uc001ezu.1																			0		p.G387D(1)|p.G387R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1162-1164)Cac>Aac		Homo sapiens filaggrin (FLG), mRNA.							254	254	254					1																	152286200		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286200G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1162C>A	1.37:g.152286200G>T	ENSP00000357789:p.His388Asn					AK056431_uc001ezv.3_Non-coding_Transcript	p.H388N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1198	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		388			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1162C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.47	1.359311	0.24598	.	.	ENSG00000143631	ENST00000368799	T	0.04502	3.61	3.99	1.83	0.25207	.	.	.	.	.	T	0.05410	0.0143	L	0.60455	1.87	0.09310	N	1	D	0.71674	0.998	D	0.85130	0.997	T	0.35895	-0.9770	9	0.19147	T	0.46	.	6.1649	0.20384	0.0:0.2096:0.5745:0.2158	.	388	P20930	FILA_HUMAN	N	388	ENSP00000357789:H388N	ENSP00000357789:H388N	H	-	1	0	FLG	150552824	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.708000	0.25719	0.964000	0.38108	0.393000	0.25936	CAC		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286200	G	T	152286200	3	4	59	1	0	0	0	0	1	0	0	0	5922	1348	47	5	11027	5	FLG	1	152286200	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	6701638	152286200	96964421	5	3781											
FLG2	388698	broad.mit.edu	37	chr1	152323312	152323312	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagatctggaacctgtcTgtgtggattgtccataacca	10	13	9	9	0	2	1	0	0	2	1	3	3	3	3	3	2	3	0	3	2	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152323312T>G	ENST00000388718.5	-	3	7022	c.6950A>C	c.(6949-6951)cAg>cCg	p.Q2317P	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2317					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAACCTGTCTGTGTGGATTG	0.463																																						uc001ezw.4																			0		p.Q2317K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6949-6951)cAg>cCg		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							300	275	283					1																	152323312		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323312T>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6950A>C	1.37:g.152323312T>G	ENSP00000373370:p.Gln2317Pro					AK056431_uc001ezv.3_Intron	p.Q2317P	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	7023	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2317					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6950A>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	8.416	0.845223	0.16963	.	.	ENSG00000143520	ENST00000388718	T	0.35789	1.29	2.5	-1.66	0.08265	.	.	.	.	.	T	0.23014	0.0556	L	0.53249	1.67	0.09310	N	1	P	0.50156	0.932	P	0.58520	0.84	T	0.08310	-1.0728	9	0.30854	T	0.27	.	3.0083	0.06035	0.0:0.294:0.2346:0.4714	.	2317	Q5D862	FILA2_HUMAN	P	2317	ENSP00000373370:Q2317P	ENSP00000373370:Q2317P	Q	-	2	0	FLG2	150589936	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.261000	0.08694	-0.361000	0.08125	-0.425000	0.05940	CAG		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152323312	T	G	152323312	3	3	59	1	0	0	0	0	1	0	0	0	5923	1580	55	5	229	5	FLG2	1	152323312	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	37112	152323312	96927309	6	3782											
LCE3E	353145	broad.mit.edu	37	chr1	152538509	152538509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcatcggtggtggCgcctgtggtggttcaggaag	4	8	20	9	4	1	0	1	0	0	0	2	1	1	1	2	8	0	2	2	8	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152538509C>T	ENST00000368789.1	-	2	231	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	59					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TCGGTGGTGGCGCCTGTGGTG	0.682																																						uc021oyz.1																			0				lung(6)|ovary(1)	7						c.(175-177)cGc>cAc		Homo sapiens late cornified envelope 3E (LCE3E), mRNA.							41	50	47					1																	152538509		2203	4299	6502	SO:0001583	missense	353145				keratinization			g.chr1:152538509C>T		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"Late cornified envelopes"	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.176G>A	1.37:g.152538509C>T	ENSP00000357778:p.Arg59His					LCE3E_uc001faa.3_Missense_Mutation_p.R59H	p.R59H	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	0	176	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		59					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.176G>A	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582542	0.03827	.	.	ENSG00000185966	ENST00000368789	T	0.05319	3.46	3.54	-5.71	0.02413	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.20764	N	0.999858	B	0.06786	0.001	B	0.04013	0.001	T	0.49579	-0.8925	8	0.87932	D	0	.	6.3859	0.21559	0.0:0.3941:0.1293:0.4766	.	59	Q5T5B0	LCE3E_HUMAN	H	59	ENSP00000357778:R59H	ENSP00000357778:R59H	R	-	2	0	LCE3E	150805133	0.000000	0.05858	0.769000	0.31535	0.007000	0.05969	-3.425000	0.00475	-1.151000	0.02836	-3.072000	0.00067	CGC		0.682	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		T	152538509	C	T	152538509	3	4	59	1	0	0	0	0	1	0	0	0	8673	768	27	1	106	1	LCE3E	1	152538509	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	215197	152538509	96712112	7	3783											
CD5L	922	broad.mit.edu	37	chr1	157805716	157805716	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatcttctgttcctgtgcaActgactgattggatgaggac	8	14	11	8	0	2	3	0	3	2	0	3	5	3	5	1	2	2	3	1	2	2	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:157805716A>G	ENST00000368174.4	-	3	381	c.285T>C	c.(283-285)agT>agC	p.S95S	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	95	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493																																						uc001frk.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(283-285)agT>agC		Homo sapiens CD5 molecule-like (CD5L), mRNA.							241	246	244					1																	157805716		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805716A>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.285T>C	1.37:g.157805716A>G							p.S95S	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	428	-	all_hematologic(112;0.0378)		95			SRCR 1.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.285T>C	CCDS1171.1																																																																																				0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		G	157805716	A	G	157805716	2	3	59	1	0	0	0	0	0	0	0	1	3027	40	2	4		4	CD5L	1	157805716	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	5267207	157805716	91444905	8	3784											
ZNF124	7678	broad.mit.edu	37	chr1	247320190	247320190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgcaaggaactgagaCaactgaaagctttgccacat	13	9	9	10	0	0	2	0	2	0	1	1	4	1	3	2	1	5	2	2	1	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:247320190C>T	ENST00000543802.2	-	4	823	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.C183Y|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGAACTGAGACAACTGAAAGC	0.458																																						uc001ick.3																			0		p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(733-735)tGt>tAt		Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.							131	129	130					1																	247320190		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320190C>T	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"Zinc fingers, C2H2-type", "-"	12907	protein-coding gene	gene with protein product		194631	"zinc finger protein 124 (HZF-16)"			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.734G>A	1.37:g.247320190C>T	ENSP00000440365:p.Cys245Tyr					ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y	p.C245Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		3	873	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		245					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.734G>A		.	.	.	.	.	.	.	.	.	.	C	0	-2.665111	0.00107	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T	0.02944	4.1	0.864	-0.298	0.12814	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.10809	0.05	0.09310	N	1	B;B	0.18166	0.006;0.026	B;B	0.16289	0.015;0.005	T	0.47129	-0.9141	9	0.02654	T	1	.	2.3501	0.04281	0.0:0.4085:0.3389:0.2526	.	245;183	Q15973;Q15973-4	ZN124_HUMAN;.	Y	206;183;189	ENSP00000340749:C183Y	ENSP00000340749:C183Y	C	-	2	0	ZNF124	245386813	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	-2.289000	0.01149	-0.113000	0.11958	0.467000	0.42956	TGT		0.458	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		T	247320190	C	T	247320190	3	4	59	1	0	0	0	0	1	0	0	0	17717	478	17	3	325	3	ZNF124	1	247320190	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	89514474	247320190	1930431	9	3785											
PGBD2	267002	broad.mit.edu	37	chr1	249212440	249212440	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgatatgattgggcacTggattatccatcaggacaag	11	11	11	8	1	1	1	1	1	0	0	3	4	2	3	1	3	0	2	1	3	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:249212440T>A	ENST00000329291.5	+	3	1804	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	PGBD2_ENST00000355360.4_Missense_Mutation_p.W302R|PGBD2_ENST00000539153.1_Missense_Mutation_p.W550R	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	553										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATTGGGCACTGGATTATCCA	0.547																																						uc001ifh.3																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1657-1659)Tgg>Agg		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							108	110	109					1																	249212440		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212440T>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1657T>A	1.37:g.249212440T>A	ENSP00000331643:p.Trp553Arg					PGBD2_uc001ifg.3_Missense_Mutation_p.W302R|PGBD2_uc009xhd.3_Missense_Mutation_p.W550R|PGBD2_uc021pmh.1_Missense_Mutation_p.W302R	p.W553R	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	1804	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	553					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1657T>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	8.181	0.793761	0.16327	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.83250	-1.7;-1.7;-1.7	3.22	2.05	0.26809	.	0.271194	0.24828	N	0.035271	T	0.78953	0.4365	L	0.34521	1.04	0.26325	N	0.977601	P;D	0.65815	0.867;0.995	P;P	0.56278	0.534;0.795	T	0.67440	-0.5670	10	0.23302	T	0.38	.	6.4255	0.21768	0.0:0.0:0.2531:0.7469	.	550;553	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	R	302;553;550	ENSP00000355424:W302R;ENSP00000331643:W553R;ENSP00000439950:W550R	ENSP00000331643:W553R	W	+	1	0	PGBD2	247179063	0.998000	0.40836	0.537000	0.28052	0.001000	0.01503	1.562000	0.36353	0.586000	0.29626	-0.435000	0.05868	TGG		0.547	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			A	249212440	T	A	249212440	3	1	59	1	0	0	0	0	1	0	0	0	11781	1580	55	5	1663	5	PGBD2	1	249212440	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	1892250	249212440	38181	10	3786											
IL1F8	27177	broad.mit.edu	37	chr2	113780342	113780342	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgaaaggaactcttcCacttctttctacctgcagga	10	13	8	10	0	3	1	0	1	3	0	4	4	4	3	2	2	3	2	2	2	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:113780342C>T	ENST00000259213.4	-	6	511	c.404G>A	c.(403-405)tGg>tAg	p.W135*		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	135					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						GGAACTCTTCCACTTCTTTCT	0.438																																						uc002tiq.1																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(403-405)tGg>tAg		Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.							168	154	159					2																	113780342		2203	4300	6503	SO:0001587	stop_gained	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113780342C>T	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.404G>A	2.37:g.113780342C>T	ENSP00000259213:p.Trp135*						p.W135*	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN			5	508	-			135					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Nonsense_Mutation	SNP	ENST00000259213.4	37	c.404G>A	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	c	7.632	0.678976	0.14841	.	.	ENSG00000136696	ENST00000259213	.	.	.	0.538	0.538	0.17150	.	2121.900000	0.00481	U	0.000134	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	135	.	ENSP00000259213:W135X	W	-	2	0	IL36B	113496813	0.010000	0.17322	0.026000	0.17262	0.025000	0.11179	0.285000	0.18883	0.539000	0.28788	0.546000	0.68486	TGG		0.438	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		T	113780342	C	T	113780342	4	4	59	1	0	0	0	0	0	1	0	0	7656	595	21	3	94	3	IL1F8	2	113780342	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		113780342	129419031	11	3787											
GALNT5	11227	broad.mit.edu	37	chr2	158165160	158165160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccctgataaaggagccGtaaggctgcacccttgtgat	10	9	10	12	1	0	2	0	2	0	0	1	3	1	3	4	2	2	3	4	2	3	3	rs200855507		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:158165160G>A	ENST00000259056.4	+	9	3087	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	868	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAAGGAGCCGTAAGGCTGCA	0.408													G|||	1	0.000199681	0	0	5008	,	,		18129	0.001		0	False		,,,				2504	0					uc002tzg.3																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2602-2604)Gta>Ata		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.							125	131	129					2																	158165160		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158165160G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2602G>A	2.37:g.158165160G>A	ENSP00000259056:p.Val868Ile					GALNT5_uc010zci.2_Non-coding_Transcript	p.V868I	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			8	2857	+			868			Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2602G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432629	0.04669	.	.	ENSG00000136542	ENST00000259056	T	0.34072	1.38	5.68	0.61	0.17580	Ricin B-related lectin (1);Ricin B lectin (3);	1.101510	0.06916	N	0.808501	T	0.21103	0.0508	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.25293	-1.0136	10	0.25751	T	0.34	.	4.6514	0.12596	0.326:0.3572:0.2518:0.0651	.	868	Q7Z7M9	GALT5_HUMAN	I	868	ENSP00000259056:V868I	ENSP00000259056:V868I	V	+	1	0	GALNT5	157873406	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.374000	0.07484	0.085000	0.17107	-2.373000	0.00235	GTA		0.408	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		A	158165160	G	A	158165160	3	1	59	1	0	0	0	0	1	0	0	0	6216	1145	40	1	2636	1	GALNT5	2	158165160	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	44384818	158165160	85034213	12	3788											
TTN	7273	broad.mit.edu	37	chr2	179553840	179553840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactttctcctctgggaCgggtttcttaggcagagctg	6	13	12	10	1	3	1	0	0	3	1	4	2	3	2	1	3	3	4	1	3	2	3	rs369932282		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:179553840C>T	ENST00000591111.1	-	123	31308	c.31084G>A	c.(31084-31086)Gtc>Atc	p.V10362I	TTN_ENST00000342992.6_Missense_Mutation_p.V9435I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10679I			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTGGGACGGGTTTCTTA	0.428																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(28303-28305)Gtc>Atc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	ILE/VAL,,,	0,3728		0,0,1864	78	80	79		28303,,,	5.3	0.8	2		79	1,8181		0,1,4090	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,1,5954	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,,,	9435/33424,,,	179553840	1,11909	1864	4091	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179553840C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31084G>A	2.37:g.179553840C>T	ENSP00000465570:p.Val10362Ile					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	p.V9435I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		121	28528	-			10362			Ig-like 77.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28303G>A		.	.	.	.	.	.	.	.	.	.	C	11.44	1.638092	0.29157	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.68331	-0.32	5.3	5.3	0.74995	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67040	0.2851	L	0.50333	1.59	0.80722	D	1	P;D	0.54397	0.66;0.966	B;P	0.44477	0.141;0.451	T	0.72707	-0.4212	9	0.87932	D	0	.	19.3217	0.94243	0.0:1.0:0.0:0.0	.	10362;10362	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	I	9435;557;162	ENSP00000343764:V9435I	ENSP00000343764:V9435I	V	-	1	0	TTN	179262085	0.005000	0.15991	0.788000	0.31933	0.087000	0.18053	1.038000	0.30254	2.653000	0.90120	0.650000	0.86243	GTC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179553840	C	T	179553840	3	4	59	1	0	0	0	0	1	0	0	0	16732	536	19	1	72446	1	TTN	2	179553840	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	21388680	179553840	63645533	13	3789											
CCDC108	255101	broad.mit.edu	37	chr2	219892442	219892442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggctggaagtgcaggCgcatggccatggacttgagt	8	7	18	8	2	0	1	0	1	0	0	0	4	0	3	1	6	1	3	1	6	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:219892442C>T	ENST00000341552.5	-	13	2224	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CCDC108_ENST00000453220.1_Missense_Mutation_p.R714H|CCDC108_ENST00000410037.1_Missense_Mutation_p.R649H|CCDC108_ENST00000441968.1_Missense_Mutation_p.R714H|CCDC108_ENST00000409865.3_Missense_Mutation_p.R703H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	714						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGCAGGCGCATGGCCAT	0.597																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2140-2142)cGc>cAc		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.							76	76	76					2																	219892442		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892442C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2141G>A	2.37:g.219892442C>T	ENSP00000340776:p.Arg714His					CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	p.R714H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2225	-		Renal(207;0.0915)	714					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2141G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463926	0.63513	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09350	3.29;3.29;3.29;2.99;2.99	5.18	4.3	0.51218	.	0.000000	0.47455	D	0.000227	T	0.12305	0.0299	M	0.71581	2.175	0.80722	D	1	P;P;P	0.46859	0.7;0.456;0.885	B;B;B	0.34652	0.132;0.109;0.187	T	0.04946	-1.0916	10	0.62326	D	0.03	-27.9193	11.6805	0.51455	0.0:0.8537:0.0:0.1463	.	703;648;714	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	H	714;714;714;190;703;649;648	ENSP00000340776:R714H;ENSP00000413377:R714H;ENSP00000409117:R714H;ENSP00000386945:R703H;ENSP00000386258:R649H	ENSP00000340776:R714H	R	-	2	0	CCDC108	219600686	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.429000	0.52800	1.415000	0.47037	0.655000	0.94253	CGC		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		T	219892442	C	T	219892442	3	4	59	1	0	0	0	0	1	0	0	0	2743	768	27	1	3728	1	CCDC108	2	219892442	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	40338602	219892442	23306931	14	3790											
COL6A3	1293	broad.mit.edu	37	chr2	238289831	238289831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcggcagcccggtagcCggctgaactcgtgaataggt	7	7	13	14	4	0	2	0	2	0	0	2	2	0	2	4	4	3	3	4	4	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:238289831C>T	ENST00000295550.4	-	5	2076	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	COL6A3_ENST00000346358.4_Missense_Mutation_p.G542S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G135S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G336S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G336S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G336S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G341S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G135S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	542	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGGTAGCCGGCTGAACTC	0.557																																						uc002vwl.2																			0		p.A541A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1624-1626)Ggc>Agc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							67	77	74					2																	238289831		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289831C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1624G>A	2.37:g.238289831C>T	ENSP00000295550:p.Gly542Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.3_Missense_Mutation_p.G336S|COL6A3_uc002vwr.3_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	p.G542S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	4	1909	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	542			Nonhelical region.|VWFA 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1624G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357384	0.82243	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000057	T	0.78941	0.4363	H	0.94462	3.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.84160	0.0428	10	0.62326	D	0.03	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	542;135;135;336;336;542	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	S	542;341;336;135;336;542;336;135;542	ENSP00000295550:G542S;ENSP00000315609:G341S;ENSP00000315873:G336S;ENSP00000418285:G135S;ENSP00000386844:G336S;ENSP00000295546:G542S;ENSP00000375861:G336S;ENSP00000375860:G135S;ENSP00000389539:G542S	ENSP00000295550:G542S	G	-	1	0	COL6A3	237954570	0.999000	0.42202	0.957000	0.39632	0.110000	0.19582	4.596000	0.61055	2.628000	0.89032	0.655000	0.94253	GGC		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238289831	C	T	238289831	3	4	59	1	0	0	0	0	1	0	0	0	3701	652	23	2	8116	2	COL6A3	2	238289831	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	18397389	238289831	4909542	15	3791											
PER2	8864	broad.mit.edu	37	chr2	239161798	239161798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaagcacatggctgtctggGgatcgaggtccggctgggga	8	7	17	9	2	1	0	0	0	1	0	3	3	2	2	1	7	1	3	1	7	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:239161798G>A	ENST00000254657.3	-	19	3145	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	956	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCTGTCTGGGGATCGAGGTC	0.667																																						uc002vyc.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2866-2868)Ccc>Tcc		Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.							49	50	50					2																	239161798		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161798G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2866C>T	2.37:g.239161798G>A	ENSP00000254657:p.Pro956Ser					PER2_uc010znv.1_Missense_Mutation_p.P956S	p.P956S	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	18	3103	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	956			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2866C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342607	0.11069	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	4.24	3.34	0.38264	.	2.441840	0.02535	U	0.094044	T	0.15609	0.0376	L	0.46885	1.475	0.52099	D	0.999945	B;B	0.23058	0.079;0.079	B;B	0.20767	0.031;0.021	T	0.14980	-1.0453	10	0.30854	T	0.27	-15.6793	7.4744	0.27368	0.208:0.0:0.792:0.0	.	956;956	B4DH14;O15055	.;PER2_HUMAN	S	956	ENSP00000254657:P956S	ENSP00000254657:P956S	P	-	1	0	PER2	238826537	1.000000	0.71417	0.022000	0.16811	0.031000	0.12232	4.227000	0.58612	1.053000	0.40415	0.655000	0.94253	CCC		0.667	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239161798	G	A	239161798	3	1	59	1	0	0	0	0	1	0	0	0	11730	1232	43	3	921	3	PER2	2	239161798	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	871967	239161798	4037575	16	3792											
AQP12A	375318	broad.mit.edu	37	chr2	241631371	241631371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctccttcttctttgccaCcttcgccctctgtgaggcgg	2	14	8	17	2	4	1	0	1	4	0	6	1	4	1	5	2	1	0	5	2	0	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:241631371C>T	ENST00000337801.4	+	1	110	c.41C>T	c.(40-42)aCc>aTc	p.T14I	AQP12A_ENST00000429564.1_Missense_Mutation_p.T14I|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	14						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTTGCCACCTTCGCCCTC	0.677																																						uc002vzu.3																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(40-42)aCc>aTc		Homo sapiens aquaporin 12A (AQP12A), mRNA.							78	87	84					2																	241631371		2188	4296	6484	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631371C>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.41C>T	2.37:g.241631371C>T	ENSP00000337144:p.Thr14Ile					AQP12A_uc002vzv.3_Intron	p.T14I	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	0	110	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	14						Missense_Mutation	SNP	ENST00000337801.4	37	c.41C>T		.	.	.	.	.	.	.	.	.	.	.	0.015	-1.548015	0.00926	.	.	ENSG00000184945	ENST00000337801;ENST00000429564	T;T	0.09817	2.94;2.94	2.43	1.51	0.23008	.	0.277718	0.33309	N	0.005058	T	0.06142	0.0159	L	0.31664	0.95	0.09310	N	1	B	0.26120	0.142	B	0.18263	0.021	T	0.35822	-0.9773	10	0.20046	T	0.44	-9.9026	6.8718	0.24125	0.0:0.8376:0.0:0.1623	.	14	Q8IXF9	AQ12A_HUMAN	I	14	ENSP00000337144:T14I;ENSP00000405899:T14I	ENSP00000337144:T14I	T	+	2	0	AQP12A	241280044	0.003000	0.15002	0.100000	0.21137	0.277000	0.26821	1.018000	0.30002	1.382000	0.46385	0.186000	0.17326	ACC		0.677	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		T	241631371	C	T	241631371	3	4	59	1	0	0	0	0	1	0	0	0	824	507	18	3	43	3	AQP12A	2	241631371	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	2469573	241631371	1568002	17	3793											
PLCD1	5333	broad.mit.edu	37	chr3	38050824	38050824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccatctcgtagaaggcCtgtccaggggtgccaggact	8	7	14	12	2	1	1	0	0	1	1	3	3	2	2	4	4	1	1	4	4	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38050824C>A	ENST00000334661.4	-	10	1767	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.Q536H	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	515	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGTAGAAGGCCTGTCCAGGGG	0.577																																						uc003chm.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1606-1608)caG>caT		Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.							74	79	78					3																	38050824		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050824C>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1545G>T	3.37:g.38050824C>A	ENSP00000335600:p.Gln515His					PLCD1_uc003chn.3_Missense_Mutation_p.Q515H	p.Q536H	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	9	1962	-			515			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1608G>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469339	0.26423	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	4.79	4.79	0.61399	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.405812	0.26620	N	0.023369	T	0.54695	0.1874	N	0.25426	0.745	0.49798	D	0.999821	B;B	0.21071	0.051;0.029	B;B	0.25759	0.063;0.056	T	0.54563	-0.8275	10	0.52906	T	0.07	.	12.8184	0.57679	0.0:0.9175:0.0:0.0825	.	515;536	P51178;B3KR14	PLCD1_HUMAN;.	H	536;515	ENSP00000430344:Q536H;ENSP00000335600:Q515H	ENSP00000335600:Q515H	Q	-	3	2	PLCD1	38025828	0.968000	0.33430	0.999000	0.59377	0.755000	0.42902	1.512000	0.35812	2.606000	0.88127	0.555000	0.69702	CAG		0.577	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			A	38050824	C	A	38050824	3	1	59	1	0	0	0	0	1	0	0	0	12031	680	24	5	749	5	PLCD1	3	38050824	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		38050824	159971606	18	3794											
SCN10A	6336	broad.mit.edu	37	chr3	38783979	38783979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacttctgagacaagcTggtcaagcagggtgggcact	11	8	13	9	0	2	2	1	1	1	2	2	3	2	2	0	3	3	3	0	3	3	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38783979T>A	ENST00000449082.2	-	13	1908	c.1909A>T	c.(1909-1911)Agc>Tgc	p.S637C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	637					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGAGACAAGCTGGTCAAGCAG	0.512																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1909-1911)Agc>Tgc		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						174	159	164					3																	38783979		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38783979T>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1909A>T	3.37:g.38783979T>A	ENSP00000390600:p.Ser637Cys						p.S637C	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	12	1909	-			637					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1909A>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092131	0.55968	.	.	ENSG00000185313	ENST00000449082	D	0.95756	-3.8	4.42	0.325	0.15903	.	0.941794	0.09084	N	0.850828	D	0.89054	0.6606	L	0.29908	0.895	0.24664	N	0.993457	D	0.53885	0.963	B	0.36534	0.227	T	0.81984	-0.0682	10	0.87932	D	0	.	6.1944	0.20542	0.0:0.1588:0.1352:0.706	.	637	Q9Y5Y9	SCNAA_HUMAN	C	637	ENSP00000390600:S637C	ENSP00000390600:S637C	S	-	1	0	SCN10A	38758983	0.001000	0.12720	0.984000	0.44739	0.958000	0.62258	0.066000	0.14489	0.300000	0.22699	0.477000	0.44152	AGC		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38783979	T	A	38783979	3	1	59	1	0	0	0	0	1	0	0	0	13912	1580	55	5	4021	5	SCN10A	3	38783979	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	733155	38783979	159238451	19	3795											
ITIH3	3699	broad.mit.edu	37	chr3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggttgtctgctggttcGtccacaacaacggagaaggg	10	8	14	9	3	1	1	0	0	1	1	3	3	2	1	1	4	3	3	1	4	4	2	rs199755994	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:52842629G>A	ENST00000449956.2	+	22	2611	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_ENST00000416872.2_Missense_Mutation_p.V677I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	869					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													G|||	5	0.000998403	0	0.0014	5008	,	,		19429	0		0	False		,,,				2504	0.0041					uc003dfv.2																			2	Substitution - Missense(2)	p.V869I(2)	lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2605-2607)Gtc>Atc		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.		G	ILE/VAL	1,4115		0,1,2057	110	109	110		2605	4.8	1	3		110	0,8380		0,0,4190	no	missense	ITIH3	NM_002217.3	29	0,1,6247	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	869/891	52842629	1,12495	2058	4190	6248	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52842629G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2605G>A	3.37:g.52842629G>A	ENSP00000415769:p.Val869Ile					ITIH3_uc011bek.1_Missense_Mutation_p.V677I	p.V869I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2641	+			869					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2605G>A	CCDS46845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.36	3.369890	0.61624	2.43E-4	0.0	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.15603	2.41;2.41	5.65	4.77	0.60923	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.189856	0.46145	N	0.000311	T	0.33469	0.0864	L	0.54323	1.7	0.29241	N	0.872638	D;P	0.76494	0.999;0.86	D;B	0.79784	0.993;0.28	T	0.12218	-1.0556	10	0.30078	T	0.28	-32.0456	11.5653	0.50802	0.0839:0.0:0.9161:0.0	.	677;869	E7ET33;Q06033	.;ITIH3_HUMAN	I	864;677;869	ENSP00000413922:V677I;ENSP00000415769:V869I	ENSP00000273291:V864I	V	+	1	0	ITIH3	52817669	0.964000	0.33143	0.995000	0.50966	0.833000	0.47200	1.484000	0.35508	1.395000	0.46643	0.655000	0.94253	GTC		0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		A	52842629	G	A	52842629	3	1	59	1	0	0	0	0	1	0	0	0	7905	1145	40	1	2691	1	ITIH3	3	52842629	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	14058650	52842629	145179801	20	3796											
ALG1L	200810	broad.mit.edu	37	chr3	125651539	125651539	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttgtgtccatcaagagtAagttgttcaaactctgtgtt	10	15	10	6	0	3	1	2	0	1	1	4	1	4	1	1	1	1	5	1	1	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423																																						uc021xdh.1																			0				large_intestine(2)|lung(2)	4						c.(172-174)ctT>ctG		Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA.							89	82	85					3																	125651539		2203	4300	6503	SO:0001819	synonymous_variant	200810						transferase activity, transferring glycosyl groups	g.chr3:125651539A>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.114T>G	3.37:g.125651539A>C						ALG1L_uc003eig.2_Silent_p.L38L	p.L58L	NM_001195223	NP_001182152	Q6GMV1	ALG1L_HUMAN			3	394	-			38					D3DNA5	Silent	SNP	ENST00000340333.3	37	c.174T>G	CCDS33840.1																																																																																				0.423	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		C	125651539	A	C	125651539	2	2	59	1	0	0	0	0	0	0	0	1	517	349	13	5		5	ALG1L	3	125651539	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	72808910	125651539	72370891	21	3797											
NAALADL2	254827	broad.mit.edu	37	chr3	174951943	174951943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagccagaaaagatagcagCcaagacctgctctattcata	16	7	8	10	0	2	3	1	0	1	3	2	4	2	3	3	0	4	2	3	0	7	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:174951943C>G	ENST00000454872.1	+	3	896	c.768C>G	c.(766-768)agC>agG	p.S256R	NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	256						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAGATAGCAGCCAAGACCTGC	0.463																																						uc003fit.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(766-768)agC>agG		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.							79	76	77					3																	174951943		1942	4146	6088	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951943C>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.768C>G	3.37:g.174951943C>G	ENSP00000404705:p.Ser256Arg					NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	p.S256R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	855	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	256					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.768C>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060850	0.36373	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.43294	0.95	5.57	5.57	0.84162	.	0.273464	0.32372	N	0.006197	T	0.56470	0.1987	M	0.65498	2.005	0.29463	N	0.857648	D;P	0.64830	0.994;0.938	D;P	0.64042	0.921;0.694	T	0.55927	-0.8063	10	0.33940	T	0.23	-3.7239	10.1277	0.42661	0.0:0.8517:0.0:0.1483	.	239;256	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	R	256;63	ENSP00000404705:S256R	ENSP00000314951:S63R	S	+	3	2	NAALADL2	176434637	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	2.391000	0.44424	2.652000	0.90054	0.650000	0.86243	AGC		0.463	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		G	174951943	C	G	174951943	3	3	59	1	0	0	0	0	1	0	0	0	10130	738	26	5	778	5	NAALADL2	3	174951943	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	49300404	174951943	23070487	22	3798											
YEATS2	55689	broad.mit.edu	37	chr3	183470006	183470006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcaccaataaagcagtCacatgagccagtacccgata	14	9	6	12	1	3	1	2	1	1	0	3	2	3	1	3	0	3	2	3	0	5	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:183470006C>T	ENST00000305135.5	+	10	1310	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	372					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGCAGTCACATGAGCCA	0.478																																						uc003fly.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1114-1116)tCa>tTa		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.							144	136	139					3																	183470006		1950	4140	6090	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183470006C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1115C>T	3.37:g.183470006C>T	ENSP00000306983:p.Ser372Leu						p.S372L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1310	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		372					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1115C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203317	0.38905	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.32272	1.46	5.15	5.15	0.70609	.	0.293334	0.28176	N	0.016308	T	0.16811	0.0404	N	0.14661	0.345	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-4.2494	6.9774	0.24683	0.0:0.7252:0.1781:0.0968	.	372	Q9ULM3	YETS2_HUMAN	L	372	ENSP00000306983:S372L	ENSP00000306983:S372L	S	+	2	0	YEATS2	184952700	0.850000	0.29656	0.992000	0.48379	0.964000	0.63967	2.477000	0.45180	2.417000	0.82017	0.655000	0.94253	TCA		0.478	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		T	183470006	C	T	183470006	3	4	59	1	0	0	0	0	1	0	0	0	17469	838	29	3	1149	3	YEATS2	3	183470006	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	8518063	183470006	14552424	23	3799											
VPS8	23355	broad.mit.edu	37	chr3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagcagtacaagagaCgccaagaaatggctgatgaa	15	7	12	7	1	0	4	0	2	0	2	0	5	0	4	1	1	3	5	1	1	5	2	rs200270246	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:184714255C>T	ENST00000437079.3	+	44	3973	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C|VPS8_ENST00000287546.4_Missense_Mutation_p.R1268C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1268							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													C|||	2	0.000399361	8e-04	0	5008	,	,		22533	0		0	False		,,,				2504	0.001					uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(3802-3804)Cgc>Tgc		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	0,3814		0,0,1907	81	79	79		3802,3796	6	1	3		79	1,8249		0,1,4124	yes	missense,missense	VPS8	NM_001009921.2,NM_015303.3	180,180	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	1268/1429,1266/1427	184714255	1,12063	1907	4125	6032	SO:0001583	missense	23355						zinc ion binding	g.chr3:184714255C>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3802C>T	3.37:g.184714255C>T	ENSP00000397879:p.Arg1268Cys					VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	p.R1268C	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		42	3890	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1268					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3802C>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232170	0.79688	0.0	1.21E-4	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.091135	0.64402	D	0.000001	T	0.76162	0.3949	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.64410	0.844;0.922;0.925	T	0.76022	-0.3111	10	0.54805	T	0.06	-11.6005	13.4353	0.61079	0.2565:0.7435:0.0:0.0	.	1268;1176;1266	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	C	1268;1268;1266;1176	ENSP00000287546:R1268C;ENSP00000397879:R1268C;ENSP00000404704:R1266C;ENSP00000405483:R1176C	ENSP00000287546:R1268C	R	+	1	0	VPS8	186196949	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.826000	0.48104	2.854000	0.98071	0.655000	0.94253	CGC		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		T	184714255	C	T	184714255	3	4	59	1	0	0	0	0	1	0	0	0	17215	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	1244249	184714255	13308175	24	3800											
DGKQ	1609	broad.mit.edu	37	chr4	956607	956607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctccgggcaggccagtCggtaccgtgtctcctccagg	6	7	14	14	3	1	0	0	0	1	0	5	0	3	0	5	5	1	3	5	5	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:956607C>T	ENST00000273814.3	-	17	2061	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	663	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGCCAGTCGGTACCGTGT	0.687																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1987-1989)cGa>cAa		Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.							29	26	27					4																	956607		2177	4288	6465	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956607C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1988G>A	4.37:g.956607C>T	ENSP00000273814:p.Arg663Gln					DGKQ_uc010ibn.3_Missense_Mutation_p.R650Q	p.R663Q	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		16	2062	-			663			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1988G>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.318327|3.318327	0.60524|0.60524	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.22743	.|1.94	4.9|4.9	-8.01|-8.01	0.01122|0.01122	.|Diacylglycerol kinase, catalytic domain (3);	.|0.453023	.|0.25313	.|N	.|0.031568	T|T	0.05227|0.05227	0.0139|0.0139	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|P;P	.|0.46220	.|0.672;0.874	.|B;B	.|0.34138	.|0.176;0.131	T|T	0.41179|0.41179	-0.9523|-0.9523	5|10	.|0.51188	.|T	.|0.08	.|.	16.1436|16.1436	0.81548|0.81548	0.0:0.1068:0.0:0.8932|0.0:0.1068:0.0:0.8932	.|.	.|663;663	.|E9KL49;P52824	.|.;DGKQ_HUMAN	N|Q	597|663	.|ENSP00000273814:R663Q	.|ENSP00000273814:R663Q	D|R	-|-	1|2	0|0	DGKQ|DGKQ	946607|946607	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.772000|0.772000	0.43724|0.43724	-1.636000|-1.636000	0.02016|0.02016	-1.535000|-1.535000	0.01740|0.01740	-0.345000|-0.345000	0.07892|0.07892	GAC|CGA		0.687	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			T	956607	C	T	956607	3	4	59	1	0	0	0	0	1	0	0	0	4473	884	31	2	868	2	DGKQ	4	956607	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		956607	190197669	25	3801											
KLHL5	51088	broad.mit.edu	37	chr4	39116882	39116882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataagttatatgctgttgggGggtatgatggacaggcatac	11	12	14	4	0	0	1	0	1	0	0	0	2	0	2	0	5	2	5	0	5	5	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:39116882G>A	ENST00000504108.1	+	10	2426	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R	KLHL5_ENST00000508137.2_Missense_Mutation_p.G528R|KLHL5_ENST00000381930.3_Missense_Mutation_p.G715R|KLHL5_ENST00000261426.5_Missense_Mutation_p.G654R|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261425.3_Missense_Mutation_p.G669R|KLHL5_ENST00000359687.2_Missense_Mutation_p.G715R	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	715						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGTTGGGGGGTATGATGG	0.458																																						uc003gtr.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2143-2145)Ggg>Agg		Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.							116	103	108					4																	39116882		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39116882G>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2143G>A	4.37:g.39116882G>A	ENSP00000423897:p.Gly715Arg					KLHL5_uc003gtp.3_Missense_Mutation_p.G669R|KLHL5_uc003gtq.3_Missense_Mutation_p.G528R|KLHL5_uc003gts.3_Missense_Mutation_p.G715R|KLHL5_uc003gtt.3_Missense_Mutation_p.G654R	p.G715R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			9	2426	+			715					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.2143G>A	CCDS33974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.949597|4.949597	0.92660|0.92660	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000515612|ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	D|D;D;D;D;D;D	0.98792|0.99494	-5.14|-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Kelch-type beta propeller (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99849|0.99849	0.9930|0.9930	H|H	0.99851|0.99851	4.845|4.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96506|0.96506	0.9375|0.9375	8|10	0.87932|0.87932	D|D	0|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|654;715;715	.|F8WAE7;Q96PQ7;Q96PQ7-2	.|.;KLHL5_HUMAN;.	E|R	226|749;669;528;715;715;715;654;309	ENSP00000425512:G226E|ENSP00000261425:G669R;ENSP00000423080:G528R;ENSP00000423897:G715R;ENSP00000352716:G715R;ENSP00000371355:G715R;ENSP00000261426:G654R	ENSP00000425512:G226E|ENSP00000261425:G669R	G|G	+|+	2|1	0|0	KLHL5|KLHL5	38793277|38793277	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.605000|0.605000	0.37080|0.37080	9.623000|9.623000	0.98386|0.98386	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.458	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			A	39116882	G	A	39116882	3	1	59	1	0	0	0	0	1	0	0	0	8392	1232	43	3	2181	3	KLHL5	4	39116882	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	38160275	39116882	152037394	26	3802											
IGJ	3512	broad.mit.edu	37	chr4	71527860	71527860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattaggatcttcggaagaaCggatgatcctggaagtaatc	13	10	11	7	2	1	2	0	1	1	1	4	6	2	6	1	4	1	1	1	4	5	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:71527860C>T	ENST00000254801.4	-	2	306	c.137G>A	c.(136-138)cGt>cAt	p.R46H	ENAM_ENST00000472903.1_3'UTR|IGJ_ENST00000543780.1_Missense_Mutation_p.R62H	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	46					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TTCGGAAGAACGGATGATCCT	0.383																																						uc010ihz.3																			0		p.R61Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(184-186)cGt>cAt		Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.							137	131	133					4																	71527860		2203	4300	6503	SO:0001583	missense	3512				immune response	extracellular region	antigen binding	g.chr4:71527860C>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"Immunoglobulins / IGJ linker"	5713	protein-coding gene	gene with protein product	"immunoglobulin J chain", "IgJ chain"	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.137G>A	4.37:g.71527860C>T	ENSP00000254801:p.Arg46His					IGJ_uc003hfn.4_Missense_Mutation_p.R46H	p.R62H	NM_144646	NP_653247	P01591	IGJ_HUMAN	Lung(101;0.235)		2	326	-			46						Missense_Mutation	SNP	ENST00000254801.4	37	c.185G>A	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495732	0.26774	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614;ENST00000470866	.	.	.	5.43	1.59	0.23543	.	0.421145	0.22672	N	0.057051	T	0.28732	0.0712	N	0.19112	0.55	0.09310	N	1	D;P	0.59767	0.986;0.954	P;B	0.44696	0.458;0.365	T	0.24548	-1.0157	9	0.41790	T	0.15	.	18.0392	0.89314	0.0:0.2008:0.7992:0.0	.	62;46	D6RHJ6;P01591	.;IGJ_HUMAN	H	46;46;62;55;62;46	.	ENSP00000254801:R46H	R	-	2	0	IGJ	71746724	0.091000	0.21658	0.107000	0.21349	0.011000	0.07611	-0.156000	0.10100	-0.016000	0.14127	0.650000	0.86243	CGT		0.383	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		T	71527860	C	T	71527860	3	4	59	1	0	0	0	0	1	0	0	0	7592	536	19	1	354	1	IGJ	4	71527860	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	32410978	71527860	119626416	27	3803											
CXXC4	80319	broad.mit.edu	37	chr4	105412449	105412449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagtcgtttcggtggtGcatgctggtcctgctgccgc	2	12	16	11	3	0	0	0	0	0	0	3	1	1	1	2	4	4	4	2	4	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:105412449G>A	ENST00000426831.1	-	1	18	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.H171Y|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	2					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTTCGGTGGTGCATGCTGGTC	0.687																																						uc003hxg.3																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(4-6)Cac>Tac		Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.																																				SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412449G>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.4C>T	4.37:g.105412449G>A	ENSP00000412267:p.His2Tyr					AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	p.H2Y	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	0	19	-			2						Missense_Mutation	SNP	ENST00000426831.1	37	c.4C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191071	0.38707	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	2.05	2.05	0.26809	.	0.218040	0.36628	N	0.002481	T	0.31451	0.0797	N	0.08118	0	0.35783	D	0.82181	P	0.39094	0.659	B	0.42959	0.403	T	0.52147	-0.8614	9	0.87932	D	0	-3.2686	12.1783	0.54198	0.0:0.0:1.0:0.0	.	2	Q9H2H0	CXXC4_HUMAN	Y	2	.	ENSP00000378248:H2Y	H	-	1	0	CXXC4	105631898	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.304000	0.78882	1.190000	0.43042	0.289000	0.19496	CAC		0.687	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		A	105412449	G	A	105412449	3	1	59	1	0	0	0	0	1	0	0	0	4098	1319	46	3	600	3	CXXC4	4	105412449	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	33884589	105412449	85741827	28	3804											
CDH18	1016	broad.mit.edu	37	chr5	19747216	19747216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcacatagtgggtcttctGctctctgtctaggctttttg	6	16	10	9	0	4	0	0	0	4	0	5	0	4	0	0	2	2	3	0	2	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:19747216G>T	ENST00000507958.1	-	6	1348	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	CDH18_ENST00000506372.1_Missense_Mutation_p.Q120K|CDH18_ENST00000502796.1_Missense_Mutation_p.Q120K|CDH18_ENST00000511273.1_Missense_Mutation_p.Q120K|CDH18_ENST00000382275.1_Missense_Mutation_p.Q120K|CDH18_ENST00000274170.4_Missense_Mutation_p.Q120K			Q13634	CAD18_HUMAN	cadherin 18, type 2	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGGTCTTCTGCTCTCTGTCT	0.433																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(358-360)Cag>Aag		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							251	224	233					5																	19747216		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747216G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.358C>A	5.37:g.19747216G>T	ENSP00000425093:p.Gln120Lys					CDH18_uc011cnm.2_Missense_Mutation_p.Q120K|CDH18_uc003jgc.3_Missense_Mutation_p.Q120K|CDH18_uc021xwu.1_Missense_Mutation_p.Q120K	p.Q120K	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	892	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		120			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.358C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609057	0.46527	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.119567	0.64402	D	0.000016	T	0.26448	0.0646	N	0.03324	-0.35	0.43771	D	0.996297	B;B	0.02656	0.0;0.0	B;B	0.12837	0.004;0.008	T	0.11641	-1.0579	9	.	.	.	.	17.3587	0.87344	0.0:0.0:1.0:0.0	.	120;120	B4DHG6;Q13634	.;CAD18_HUMAN	K	120;120;120;120;120;120;66;120	ENSP00000371710:Q120K;ENSP00000425093:Q120K;ENSP00000274170:Q120K;ENSP00000424931:Q120K;ENSP00000422138:Q120K;ENSP00000427383:Q66K;ENSP00000425854:Q120K	.	Q	-	1	0	CDH18	19782973	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.982000	0.49337	2.441000	0.82636	0.591000	0.81541	CAG		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19747216	G	T	19747216	3	4	59	1	0	0	0	0	1	0	0	0	3103	1328	46	5	2054	5	CDH18	5	19747216	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		19747216	161168044	29	3805											
PRDM9	56979	broad.mit.edu	37	chr5	23523414	23523414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagatcaccaaggggagAaactgctatgagtatgtgga	14	8	12	7	0	2	3	2	1	0	2	2	5	2	4	1	3	2	2	1	3	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:23523414A>G	ENST00000296682.3	+	9	1079	c.897A>G	c.(895-897)agA>agG	p.R299R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	299	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAGGGGAGAAACTGCTATG	0.428										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(895-897)agA>agG		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							129	126	127					5																	23523414		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23523414A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.897A>G	5.37:g.23523414A>G		HNSCC(3;0.000094)					p.R299R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	1079	+			299			SET.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.897A>G	CCDS43307.1																																																																																				0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23523414	A	G	23523414	2	3	59	1	0	0	0	0	0	0	0	1	12463	243	9	4		4	PRDM9	5	23523414	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	3776198	23523414	157391846	30	3806											
ADAMTS12	81792	broad.mit.edu	37	chr5	33615934	33615934	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcctttctgcattaccTggatccacacagactcattg	8	13	5	15	0	2	1	1	0	1	1	5	2	5	2	4	1	2	1	4	1	1	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:33615934T>C	ENST00000504830.1	-	15	2722	c.2387A>G	c.(2386-2388)cAg>cGg	p.Q796R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Splice_Site_p.Q711R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	796	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCATTACCTGGATCCACAC	0.473										HNSCC(64;0.19)																												uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.e15+1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							137	122	127					5																	33615934		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33615934T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2388+1A>G	5.37:g.33615934T>C		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Splice_Site_p.Q711_splice	p.Q796_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN			15	2551	-			796			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2388_splice	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422343	0.83559	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53423	0.62;0.62	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.107334	0.64402	D	0.000004	T	0.71333	0.3327	M	0.90542	3.125	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.985	T	0.73183	-0.4063	10	0.13853	T	0.58	.	15.0085	0.71530	0.0:0.0:0.0:1.0	.	711;796	P58397-3;P58397	.;ATS12_HUMAN	R	796;711	ENSP00000422554:Q796R;ENSP00000344847:Q711R	ENSP00000344847:Q711R	Q	-	2	0	ADAMTS12	33651691	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.869000	0.87170	2.007000	0.58848	0.459000	0.35465	CAG		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Missense_Mutation	C	33615934	T	C	33615934	5	2	59	1	0	0	0	0	0	0	1	0	257	1594	55	4	2437	4	ADAMTS12	5	33615934	Splice_Site	SNP	T	TCGA-06-0743-01A-01D-1492-08	10092520	33615934	147299326	31	3807											
MAP3K1	4214	broad.mit.edu	37	chr5	56168509	56168509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagagaacctttaatatgtCccctttgtagatctaagtgg	12	14	8	7	0	1	2	0	0	1	2	2	3	2	2	3	1	1	1	3	1	6	7			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:56168509C>T	ENST00000399503.3	+	8	1465	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	489					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTAATATGTCCCCTTTGTAG	0.279																																						uc003jqw.4																			0		p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1465-1467)Ccc>Tcc		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							82	78	79					5																	56168509		1788	4062	5850	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168509C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1465C>T	5.37:g.56168509C>T	ENSP00000382423:p.Pro489Ser						p.P489S	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1966	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	489						Missense_Mutation	SNP	ENST00000399503.3	37	c.1465C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825124	0.90955	.	.	ENSG00000095015	ENST00000399503	D	0.94576	-3.46	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96782	0.9576	10	0.87932	D	0	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	489	Q13233	M3K1_HUMAN	S	489	ENSP00000382423:P489S	ENSP00000382423:P489S	P	+	1	0	MAP3K1	56204266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.718000	0.74713	2.834000	0.97654	0.650000	0.86243	CCC		0.279	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56168509	C	T	56168509	3	4	59	1	0	0	0	0	1	0	0	0	9243	855	30	3	1495	3	MAP3K1	5	56168509	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	22552575	56168509	124746751	32	3808											
NAIP	4671	broad.mit.edu	37	chr5	70308329	70308329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattcttcacccttatgtcGtacttggcaatgttaccaac	10	14	6	11	1	2	1	1	0	1	1	3	1	2	1	2	1	3	3	2	1	5	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:70308329G>A	ENST00000517649.1	-	4	704	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAIP_ENST00000508426.2_Silent_p.Y138Y|NAIP_ENST00000194097.4_Silent_p.Y138Y|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	138					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)	p.Y138Y(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483																																						uc003kar.1																			1	Substitution - coding silent(1)	p.Y138Y(2)	central_nervous_system(1)	central_nervous_system(1)	1						c.(412-414)taC>taT		Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.							213	174	187					5																	70308329		2202	4296	6498	SO:0001819	synonymous_variant	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308329G>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.414C>T	5.37:g.70308329G>A						NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	p.Y138Y	NM_004536	NP_004527	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	1132	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	138					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Silent	SNP	ENST00000517649.1	37	c.414C>T	CCDS4009.1																																																																																				0.483	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		A	70308329	G	A	70308329	2	1	59	1	0	0	0	0	0	0	0	1	10147	1140	40	1		1	NAIP	5	70308329	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	14139820	70308329	110606931	33	3809											
FAM81B	153643	broad.mit.edu	37	chr5	94749771	94749771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccgcatcaaggaggaCatctctgcttgcctgcaggg	7	9	12	13	1	2	0	1	0	1	0	4	2	3	2	3	3	3	3	3	3	1	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:94749771C>T	ENST00000283357.5	+	4	460	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	138						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAAGGAGGACATCTCTGCTT	0.522																																						uc003kla.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(412-414)gaC>gaT		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							105	108	107					5																	94749771		2003	4177	6180	SO:0001819	synonymous_variant	153643							g.chr5:94749771C>T		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.414C>T	5.37:g.94749771C>T						FAM81B_uc010jbe.1_5'UTR	p.D138D	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	460	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	138						Silent	SNP	ENST00000283357.5	37	c.414C>T	CCDS43341.1																																																																																				0.522	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		T	94749771	C	T	94749771	2	4	59	1	0	0	0	0	0	0	0	1	5629	477	17	3		3	FAM81B	5	94749771	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	24441442	94749771	86165489	34	3810											
PCDHA7	56141	broad.mit.edu	37	chr5	140215715	140215715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagagagcttgtgccgCggtctgtgggcgcgggccat	5	8	18	10	4	1	2	0	1	1	1	1	3	1	2	2	3	2	1	2	3	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:140215715C>T	ENST00000525929.1	+	1	1747	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R583W|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	583	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTGCCGCGGTCTGTGGG	0.657																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1747-1749)Cgg>Tgg		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							102	102	102					5																	140215715		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140215715C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1747C>T	5.37:g.140215715C>T	ENSP00000436426:p.Arg583Trp					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.R583W	p.R583W	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1747	+			596					O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1747C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	3.608	-0.080160	0.07141	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.38722	1.12;1.12	3.67	-0.661	0.11417	Cadherin (2);Cadherin-like (1);	0.356243	0.15743	U	0.246805	T	0.42877	0.1222	M	0.80982	2.52	0.09310	N	1	B;B	0.33494	0.414;0.331	B;B	0.39299	0.296;0.082	T	0.43702	-0.9375	10	0.56958	D	0.05	.	3.871	0.09036	0.4082:0.38:0.1327:0.0791	.	583;583	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	583	ENSP00000436426:R583W;ENSP00000367365:R583W	ENSP00000367365:R583W	R	+	1	2	PCDHA7	140195899	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.347000	0.02632	-0.292000	0.08999	0.462000	0.41574	CGG		0.657	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		T	140215715	C	T	140215715	3	4	59	1	0	0	0	0	1	0	0	0	11529	759	27	1	1749	1	PCDHA7	5	140215715	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	45465944	140215715	40699545	35	3811											
NMUR2	56923	broad.mit.edu	37	chr5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagaaagggtagttgcGccacatctcatagacctcca	14	7	9	11	1	1	2	1	0	1	2	3	3	2	2	3	1	2	2	3	1	5	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:151784353G>A	ENST00000255262.3	-	1	487	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587																																						uc003luv.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(322-324)Cgc>Tgc		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							90	95	93					5																	151784353		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784353G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.322C>T	5.37:g.151784353G>A	ENSP00000255262:p.Arg108Cys						p.R108C	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		0	488	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	108					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.322C>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794466	0.31777	.	.	ENSG00000132911	ENST00000255262	T	0.37752	1.18	5.54	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	0.631366	0.15933	N	0.237584	T	0.23611	0.0571	L	0.41573	1.285	0.37591	D	0.920176	B	0.19706	0.038	B	0.10450	0.005	T	0.11941	-1.0567	10	0.38643	T	0.18	-3.716	3.6823	0.08314	0.2827:0.0:0.4113:0.306	.	108	Q9GZQ4	NMUR2_HUMAN	C	108	ENSP00000255262:R108C	ENSP00000255262:R108C	R	-	1	0	NMUR2	151764546	0.988000	0.35896	0.987000	0.45799	0.986000	0.74619	0.935000	0.28924	0.697000	0.31718	0.655000	0.94253	CGC		0.587	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		A	151784353	G	A	151784353	3	1	59	1	0	0	0	0	1	0	0	0	10507	1087	38	1	941	1	NMUR2	5	151784353	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	11568638	151784353	29130907	36	3812											
TIMD4	91937	broad.mit.edu	37	chr5	156349123	156349123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttacctctcaggagaaaCgccacaaacaatgcgaagag	15	6	8	12	2	1	2	1	0	1	2	3	4	2	2	3	1	4	0	3	1	5	1	rs188217458		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:156349123C>T	ENST00000274532.2	-	7	1055	c.999G>A	c.(997-999)gcG>gcA	p.A333A	TIMD4_ENST00000407087.3_Silent_p.A305A|TIMD4_ENST00000406964.1_Silent_p.A35A	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	333						integral component of membrane (GO:0016021)		p.A333A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGAGAAACGCCACAAACA	0.517													C|||	1	0.000199681	0	0	5008	,	,		21166	0.001		0	False		,,,				2504	0					uc003lwh.2																			1	Substitution - coding silent(1)	p.A333A(2)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(997-999)gcG>gcA		Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.							135	122	126					5																	156349123		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156349123C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.999G>A	5.37:g.156349123C>T						TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	p.A333A	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	1056	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	333					B5MCL9	Silent	SNP	ENST00000274532.2	37	c.999G>A	CCDS4332.1																																																																																				0.517	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		T	156349123	C	T	156349123	2	4	59	1	0	0	0	0	0	0	0	1	15900	523	19	1		1	TIMD4	5	156349123	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	4564770	156349123	24566137	37	3813											
MYLIP	29116	broad.mit.edu	37	chr6	16143302	16143302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagccaggcttcagctgaAtaccaagttttgcagattgt	11	11	9	10	0	1	2	1	1	0	1	1	2	1	2	3	1	4	4	3	1	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:16143302A>C	ENST00000356840.3	+	4	714	c.516A>C	c.(514-516)gaA>gaC	p.E172D	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTTCAGCTGAATACCAAGTTT	0.463																																						uc003nbq.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(514-516)gaA>gaC		Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.							99	91	94					6																	16143302		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16143302A>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.516A>C	6.37:g.16143302A>C	ENSP00000349298:p.Glu172Asp					MYLIP_uc003nbr.3_5'UTR	p.E172D	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		3	753	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	172			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.516A>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052562	0.75960	.	.	ENSG00000007944	ENST00000356840	T	0.79033	-1.23	5.57	-7.88	0.01178	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.58101	1.795	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.83983	0.0333	10	0.33940	T	0.23	.	14.5919	0.68371	0.5062:0.0:0.4938:0.0	.	172	Q8WY64	MYLIP_HUMAN	D	172	ENSP00000349298:E172D	ENSP00000349298:E172D	E	+	3	2	MYLIP	16251281	0.998000	0.40836	0.077000	0.20336	0.945000	0.59286	0.537000	0.23144	-1.700000	0.01414	-0.290000	0.09829	GAA		0.463	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		C	16143302	A	C	16143302	3	2	59	1	0	0	0	0	1	0	0	0	10055	98	4	5	530	5	MYLIP	6	16143302	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08		16143302	154971765	38	3814											
FKSG83	387316	broad.mit.edu	37	chr6	27293586	27293586	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttctattgcatcaaagAaatcctgataaaaattattt	16	15	4	6	0	2	2	1	1	1	1	3	2	3	2	1	0	2	2	1	0	7	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:27293586A>G								POM121L2 (13637 upstream) : ZNF391 (48807 downstream)																							TGCATCAAAGAAATCCTGATA	0.333																																						uc010jqt.3																			0											c.(523-525)agA>agG		SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;							25	22	23					6																	27293586		1795	4053	5848	SO:0001628	intergenic_variant	83954							g.chr6:27293586A>G																													6.37:g.27293586A>G							p.R175R	NM_032030	NP_114419					0	1047	+									Silent	SNP		37	c.525A>G																																																																																				0	0.333									G	27293586	A	G	27293586	1	3	59	0	1	0	0	0	0	0	0	0	5918	243	9	4		4	FKSG83	6	27293586	IGR	SNP	A	TCGA-06-0743-01A-01D-1492-08	11150284	27293586	143821481	39	3815											
SLC22A7	10864	broad.mit.edu	37	chr6	43267438	43267438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcatctgcagcctccGtcagctatgtaatgtttgcc	6	12	10	13	1	2	0	1	0	1	0	3	0	3	0	4	1	4	5	4	1	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:43267438G>A	ENST00000372585.5	+	4	672	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	SLC22A7_ENST00000372589.3_Missense_Mutation_p.V191I|SLC22A7_ENST00000372574.3_Missense_Mutation_p.V191I|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	193					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCAGCCTCCGTCAGCTATGT	0.587																																						uc021yzt.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(577-579)Gtc>Atc		Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.							95	94	94					6																	43267438		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267438G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.577G>A	6.37:g.43267438G>A	ENSP00000361666:p.Val193Ile					SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.3_Missense_Mutation_p.V191I|SLC22A7_uc003out.3_Missense_Mutation_p.V191I	p.V193I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		3	676	+			193					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.577G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292719	0.40594	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.56	1.75	0.24633	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.694088	0.13984	N	0.349316	T	0.21347	0.0514	L	0.39326	1.205	0.09310	N	0.999997	B;B;B	0.13594	0.008;0.006;0.006	B;B;B	0.21708	0.036;0.008;0.008	T	0.27773	-1.0064	10	0.35671	T	0.21	.	8.3472	0.32281	0.3252:0.0:0.6748:0.0	.	193;191;191	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	I	62;252;191;193;191	ENSP00000416052:V62I;ENSP00000411818:V252I;ENSP00000361670:V191I;ENSP00000361666:V193I;ENSP00000361655:V191I	ENSP00000361655:V191I	V	+	1	0	SLC22A7	43375416	0.082000	0.21442	0.387000	0.26183	0.983000	0.72400	0.843000	0.27640	0.285000	0.22329	0.462000	0.41574	GTC		0.587	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			A	43267438	G	A	43267438	3	1	59	1	0	0	0	0	1	0	0	0	14459	1145	40	1	587	1	SLC22A7	6	43267438	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	15973852	43267438	127847629	40	3816											
AARS2	57505	broad.mit.edu	37	chr6	44270876	44270876	+	Frame_Shift_Del	DEL	C	C	-																															caatgcatgggccacgggcaCccccactgataccacccgca																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:44270876delC	ENST00000244571.4	-	16	2184	c.2182delG	c.(2182-2184)gtgfs	p.V728fs	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCACGGGCACCCCCACTGAT	0.602																																						uc010jza.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2182-2184)gtgfs		Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Alanine(DB00160)						58	60	60					6																	44270876		2203	4300	6503	SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270876delC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2182delG	6.37:g.44270876delC	ENSP00000244571:p.Val728fs					TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	p.V728fs	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		15	2185	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		728						Frame_Shift_Del	DEL	ENST00000244571.4	37	c.2182delG	CCDS34464.1																																																																																				0.602	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		-	44270876	C	-	44270876	7	5	59	1	0	1	0	1	0	0	0	0	20	507	18	0	803	0	AARS2	6	44270876	Frame_Shift_Del	DEL	C	TCGA-06-0743-01A-01D-1492-08	1003438	44270876	126844191	41	3817											
MEP1A	4224	broad.mit.edu	37	chr6	46806843	46806843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgaccttctccatcatCgccatcctttcccaaaggcc	7	13	4	17	1	3	1	1	1	2	0	7	1	5	1	6	1	0	0	6	1	1	4	rs139598232	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:46806843C>T	ENST00000230588.4	+	14	2220	c.2211C>T	c.(2209-2211)atC>atT	p.I737I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	737					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTCCATCATCGCCATCCTTT	0.602																																						uc011dwh.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2293-2295)atC>atT		Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	89	72	77		2211	1.8	0.4	6	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MEP1A	NM_005588.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		737/747	46806843	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806843C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2211C>T	6.37:g.46806843C>T						MEP1A_uc010jzh.1_Silent_p.I737I|MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwi.1_Silent_p.I637I	p.I765I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		12	2303	+			737					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.2295C>T	CCDS4918.1																																																																																				0.602	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		T	46806843	C	T	46806843	2	4	59	1	0	0	0	0	0	0	0	1	9475	874	31	2		2	MEP1A	6	46806843	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	2535967	46806843	124308224	42	3818											
C6orf221	154288	broad.mit.edu	37	chr6	74073290	74073290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttccaggctcaggaaagGccctcgcccaggatgtcgcc	7	8	11	15	2	2	0	1	0	1	0	5	2	3	2	4	4	0	1	4	4	1	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:74073290G>A	ENST00000370367.3	+	3	414	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	121							RNA binding (GO:0003723)										CTCAGGAAAGGCCCTCGCCCA	0.617																																						uc003pgt.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						c.(361-363)Gcc>Acc		Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.							31	35	34					6																	74073290		2203	4299	6502	SO:0001583	missense	154288							g.chr6:74073290G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.361G>A	6.37:g.74073290G>A	ENSP00000359392:p.Ala121Thr						p.A121T	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			2	414	+			121					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.361G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546430	0.27652	.	.	ENSG00000203908	ENST00000370367	T	0.51071	0.72	3.0	-2.4	0.06583	.	1.311810	0.05471	N	0.553077	T	0.13286	0.0322	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.16289	0.015	T	0.16129	-1.0413	10	0.35671	T	0.21	-2.057	4.3251	0.11036	0.5214:0.1853:0.2933:0.0	.	121	Q587J8	ECAT1_HUMAN	T	121	ENSP00000359392:A121T	ENSP00000359392:A121T	A	+	1	0	C6orf221	74130011	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.201000	0.09464	-0.629000	0.05575	-0.136000	0.14681	GCC		0.617	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		A	74073290	G	A	74073290	3	1	59	1	0	0	0	0	1	0	0	0	2355	1203	42	3	371	3	C6orf221	6	74073290	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	27266447	74073290	97041777	43	3819											
MACC1	346389	broad.mit.edu	37	chr7	20198221	20198221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactttggactgaccaataGcttttaccttaccttccccg	8	14	5	14	1	1	1	1	1	0	0	2	2	2	2	5	1	3	1	5	1	4	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:20198221G>A	ENST00000400331.5	-	5	2071	c.1763C>T	c.(1762-1764)gCt>gTt	p.A588V	MACC1_ENST00000332878.4_Missense_Mutation_p.A588V|MACC1_ENST00000589011.1_Missense_Mutation_p.A588V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	588	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGACCAATAGCTTTTACCTT	0.418																																						uc003sus.4																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1762-1764)gCt>gTt		Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.							160	158	159					7																	20198221		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198221G>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1763C>T	7.37:g.20198221G>A	ENSP00000383185:p.Ala588Val					MACC1_uc010kug.3_Missense_Mutation_p.A588V	p.A588V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			4	2072	-			588			SH3.		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1763C>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847339	0.32606	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10288	2.89;2.89	5.81	4.94	0.65067	Src homology-3 domain (1);Variant SH3 (1);	0.150231	0.64402	N	0.000010	T	0.22551	0.0544	M	0.68317	2.08	0.51767	D	0.999931	D	0.57899	0.981	P	0.54210	0.745	T	0.04242	-1.0966	10	0.20046	T	0.44	-11.4479	15.185	0.72993	0.0676:0.0:0.9324:0.0	.	588	Q6ZN28	MACC1_HUMAN	V	588	ENSP00000383185:A588V;ENSP00000328410:A588V	ENSP00000328410:A588V	A	-	2	0	MACC1	20164746	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	5.826000	0.69293	1.472000	0.48140	-0.126000	0.14955	GCT		0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		A	20198221	G	A	20198221	3	1	59	1	0	0	0	0	1	0	0	0	9143	971	34	3	807	3	MACC1	7	20198221	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		20198221	138940442	44	3820											
EGFR	1956	broad.mit.edu	37	chr7	55214352	55214352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accctgccctgtgcaacgtgGagagcatccagtggcgggac	8	6	14	13	2	0	1	0	0	0	1	1	3	1	2	3	3	4	2	3	3	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55214352G>A	ENST00000275493.2	+	4	655	c.478G>A	c.(478-480)Gag>Aag	p.E160K	EGFR_ENST00000344576.2_Missense_Mutation_p.E160K|EGFR_ENST00000342916.3_Missense_Mutation_p.E160K|EGFR_ENST00000442591.1_Missense_Mutation_p.E160K|EGFR_ENST00000454757.2_Missense_Mutation_p.E107K|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000420316.2_Missense_Mutation_p.E160K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	160			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCAACGTGGAGAGCATCCA	0.552		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(478-480)Gag>Aag		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						116	96	103					7																	55214352		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214352G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.478G>A	7.37:g.55214352G>A	ENSP00000275493:p.Glu160Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.E160K|EGFR_uc003tqi.3_Missense_Mutation_p.E160K|EGFR_uc003tqj.3_Missense_Mutation_p.E160K|EGFR_uc022adm.1_Missense_Mutation_p.E160K|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.E107K	p.E160K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	724	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		160					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.478G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576748	0.65878	.	.	ENSG00000146648	ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.6	5.6	0.85130	EGF receptor, L domain (1);	0.530307	0.22622	N	0.057700	T	0.73877	0.3643	L	0.39514	1.22	0.37863	D	0.929789	B;P;P;B	0.43578	0.003;0.811;0.564;0.151	B;B;B;B	0.34489	0.01;0.184;0.171;0.04	T	0.79990	-0.1570	10	0.72032	D	0.01	.	11.6322	0.51183	0.0817:0.0:0.9183:0.0	.	160;160;160;160	P00533;P00533-3;P00533-4;P00533-2	EGFR_HUMAN;.;.;.	K	160;30;160;160;160;160;107;107	ENSP00000342376:E160K;ENSP00000345973:E160K;ENSP00000413843:E160K;ENSP00000275493:E160K;ENSP00000410031:E160K;ENSP00000413354:E107K;ENSP00000395243:E107K	ENSP00000275493:E160K	E	+	1	0	EGFR	55181846	1.000000	0.71417	0.982000	0.44146	0.620000	0.37586	4.133000	0.57983	2.630000	0.89119	0.655000	0.94253	GAG		0.552	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55214352	G	A	55214352	3	1	59	1	0	0	0	0	1	0	0	0	4967	1175	41	3	492	3	EGFR	7	55214352	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	35016131	55214352	103924311	45	3821											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	59	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	7470	55221822	103916841	46	3822											
COL1A2	1278	broad.mit.edu	37	chr7	94056341	94056341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatggtgatcaaggtGctcctggctccgtgggtcct	5	11	13	12	1	2	1	2	1	0	0	5	1	5	1	4	4	1	2	4	4	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:94056341G>C	ENST00000297268.6	+	47	3598	c.3127G>C	c.(3127-3129)Gct>Cct	p.A1043P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1043					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGATCAAGGTGCTCCTGGCTC	0.458										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3127-3129)Gct>Cct		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						94	83	86					7																	94056341		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94056341G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3127G>C	7.37:g.94056341G>C	ENSP00000297268:p.Ala1043Pro	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.A1043P	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		46	3598	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1043					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3127G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032962	0.19590	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94417	-3.42	5.18	-4.22	0.03800	.	0.314144	0.34411	N	0.003981	D	0.83418	0.5250	N	0.11131	0.1	0.28388	N	0.919216	B	0.02656	0.0	B	0.01281	0.0	T	0.69296	-0.5182	10	0.09843	T	0.71	.	13.5544	0.61751	0.0:0.147:0.1784:0.6746	.	1043	P08123	CO1A2_HUMAN	P	1043;1044	ENSP00000297268:A1043P	ENSP00000297268:A1043P	A	+	1	0	COL1A2	93894277	0.853000	0.29707	0.783000	0.31826	0.949000	0.60115	-0.066000	0.11598	-0.947000	0.03673	-0.181000	0.13052	GCT		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		C	94056341	G	C	94056341	3	2	59	1	0	0	0	0	1	0	0	0	3678	1319	46	5	3313	5	COL1A2	7	94056341	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	38834519	94056341	65082322	47	3823											
NPTX2	4885	broad.mit.edu	37	chr7	98254262	98254262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttaagtcaccagatgcGttcaaggtgtccctcccact	8	11	8	14	1	2	1	2	0	0	1	4	1	4	1	4	1	1	1	4	1	2	3	rs200093714		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98254262G>A	ENST00000265634.3	+	3	837	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	224					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACCAGATGCGTTCAAGGTGT	0.602																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(670-672)gcG>gcA		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							240	195	211					7																	98254262		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254262G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.672G>A	7.37:g.98254262G>A							p.A224A	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	849	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		224					A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.672G>A	CCDS5657.1																																																																																				0.602	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		A	98254262	G	A	98254262	2	1	59	1	0	0	0	0	0	0	0	1	10603	1132	40	1		1	NPTX2	7	98254262	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	4197921	98254262	60884401	48	3824											
TRRAP	8295	broad.mit.edu	37	chr7	98528341	98528341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtatgcaaagctgggggGtgtggtgtctattaagtttc	7	14	16	4	0	1	0	0	0	1	0	2	0	1	0	0	5	2	4	0	5	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98528341G>T	ENST00000359863.4	+	25	3688	c.3479G>T	c.(3478-3480)gGt>gTt	p.G1160V	TRRAP_ENST00000446306.3_Missense_Mutation_p.G1159V|TRRAP_ENST00000355540.3_Missense_Mutation_p.G1160V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1160					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCTGGGGGGTGTGGTGTCT	0.517																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3478-3480)gGt>gTt		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							142	143	143					7																	98528341		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98528341G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3479G>T	7.37:g.98528341G>T	ENSP00000352925:p.Gly1160Val					TRRAP_uc011kis.2_Missense_Mutation_p.G1160V|TRRAP_uc003upr.3_Missense_Mutation_p.G852V	p.G1160V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		24	3688	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1160					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3479G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.105134|5.105134	0.94245|0.94245	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64260|.	-0.09;-0.09|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76471|0.76471	0.3992|0.3992	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.74794|0.74794	-0.3544|-0.3544	10|5	0.87932|.	D|.	0|.	.|.	19.5973|19.5973	0.95546|0.95546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1160;874;1160|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|L	1160;1160;1158|875	ENSP00000352925:G1160V;ENSP00000347733:G1160V|.	ENSP00000347733:G1160V|.	G|V	+|+	2|1	0|0	TRRAP|TRRAP	98366277|98366277	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.992000|0.992000	0.81027|0.81027	9.802000|9.802000	0.99131|0.99131	2.700000|2.700000	0.92200|0.92200	0.591000|0.591000	0.81541|0.81541	GGT|GTG		0.517	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98528341	G	T	98528341	3	4	59	1	0	0	0	0	1	0	0	0	16598	1261	44	5	3573	5	TRRAP	7	98528341	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	274079	98528341	60610322	49	3825											
IFRD1	3475	broad.mit.edu	37	chr7	112112859	112112859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtatttgaacttggaccCccagtgatgcttgatgctgc	9	13	10	9	0	0	3	0	3	0	0	0	4	0	4	2	1	4	3	2	1	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:112112859C>T	ENST00000403825.3	+	11	1470	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	IFRD1_ENST00000535603.1_Silent_p.P353P|IFRD1_ENST00000005558.4_Silent_p.P403P	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	403				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). {ECO:0000305}.	adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACTTGGACCCCCAGTGATGC	0.353																																						uc003vgh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1207-1209)ccC>ccT		Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.							131	133	132					7																	112112859		2203	4300	6503	SO:0001819	synonymous_variant	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112859C>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1209C>T	7.37:g.112112859C>T						IFRD1_uc011kmn.2_Silent_p.P353P|IFRD1_uc003vgj.3_Silent_p.P403P|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Silent_p.P353P|IFRD1_uc003vgk.3_Silent_p.P120P	p.P403P	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN			11	1679	+			403	LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).				B7Z5G1|O75234|Q5U013|Q9BVE4	Silent	SNP	ENST00000403825.3	37	c.1209C>T	CCDS34736.1																																																																																				0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		T	112112859	C	T	112112859	2	4	59	1	0	0	0	0	0	0	0	1	7553	610	22	3		3	IFRD1	7	112112859	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	13584518	112112859	47025804	50	3826											
GIMAP6	474344	broad.mit.edu	37	chr7	150324938	150324938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctggcttacttgcctttCctgtagttctttcagccgaa	5	15	8	13	1	2	0	1	0	1	0	3	1	3	0	4	1	3	3	4	1	3	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150324938C>T	ENST00000328902.5	-	3	964	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	250						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493																																						uc022apv.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(958-960)Gaa>Aaa		Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.							143	123	130					7																	150324938		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324938C>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.748G>A	7.37:g.150324938C>T	ENSP00000330374:p.Glu250Lys					GIMAP6_uc003whn.3_Missense_Mutation_p.E250K|GIMAP6_uc003whm.3_3'UTR	p.E320K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1438	-			250					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.958G>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892594	0.33442	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06294	3.32	3.57	1.64	0.23874	.	1.707540	0.04026	N	0.300639	T	0.04092	0.0114	N	0.08118	0	0.09310	N	0.999999	B;P	0.42908	0.31;0.793	B;B	0.40375	0.206;0.327	T	0.38457	-0.9660	10	0.09084	T	0.74	.	9.5429	0.39262	0.0:0.527:0.473:0.0	.	250;170	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	K	250;311	ENSP00000330374:E250K	ENSP00000330374:E250K	E	-	1	0	GIMAP6	149955871	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.134000	0.10436	0.176000	0.19873	-0.211000	0.12701	GAA		0.493	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		T	150324938	C	T	150324938	3	4	59	1	0	0	0	0	1	0	0	0	6383	864	30	3	134	3	GIMAP6	7	150324938	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	38212079	150324938	8813725	51	3827											
ABP1	26	broad.mit.edu	37	chr7	150558161	150558161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcttcccagaggacccctCcctggcatccagagacactg	8	8	8	17	0	1	2	0	0	1	2	4	4	4	3	5	2	0	1	5	2	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150558161C>T	ENST00000493429.1	+	7	2704	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	AOC1_ENST00000360937.4_Missense_Mutation_p.S707F|AOC1_ENST00000467291.1_Missense_Mutation_p.S707F|AOC1_ENST00000416793.2_Missense_Mutation_p.S726F|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	707					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GAGGACCCCTCCCTGGCATCC	0.622																																						uc003why.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2119-2121)tCc>tTc		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)						62	72	69					7																	150558161		2038	4190	6228	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150558161C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2120C>T	7.37:g.150558161C>T	ENSP00000418614:p.Ser707Phe					ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	p.S707F	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	6338	+	all_neural(206;0.219)		707					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2120C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484506	0.84854	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	4.84	4.84	0.62591	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.87269	2.87	0.80722	D	1	D;D	0.61697	0.99;0.974	P;P	0.60345	0.873;0.865	T	0.02654	-1.1128	10	0.87932	D	0	-50.3338	15.4653	0.75394	0.0:1.0:0.0:0.0	.	726;707	C9J690;P19801	.;ABP1_HUMAN	F	707;707;707;726;583	ENSP00000418614:S707F;ENSP00000418328:S707F;ENSP00000354193:S707F;ENSP00000411613:S726F	ENSP00000354193:S707F	S	+	2	0	ABP1	150189094	1.000000	0.71417	0.542000	0.28115	0.952000	0.60782	7.421000	0.80204	2.236000	0.73375	0.305000	0.20034	TCC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150558161	C	T	150558161	3	4	59	1	0	0	0	0	1	0	0	0	98	855	30	3	2134	3	ABP1	7	150558161	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	233223	150558161	8580502	52	3828											
ZMAT4	79698	broad.mit.edu	37	chr8	40554861	40554861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaccaccgctgaagtGaatgacatgttgcagagtgt	10	9	12	10	2	0	4	0	3	0	1	1	4	0	4	3	1	1	3	3	1	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:40554861G>T	ENST00000297737.6	-	4	398	c.252C>A	c.(250-252)ttC>ttA	p.F84L	ZMAT4_ENST00000315769.7_Missense_Mutation_p.F84L	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	84						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGCTGAAGTGAATGACATGT	0.498																																						uc003xnr.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(250-252)ttC>ttA		Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.							135	119	125					8																	40554861		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554861G>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.252C>A	8.37:g.40554861G>T	ENSP00000297737:p.Phe84Leu					ZMAT4_uc003xns.3_Missense_Mutation_p.F84L	p.F84L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		3	398	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	84					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.252C>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185350	0.78677	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.33654	1.4;1.4;1.4	6.17	-0.444	0.12245	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.39467	1.215	0.40329	D	0.978907	B;D	0.76494	0.029;0.999	B;D	0.85130	0.111;0.997	T	0.15492	-1.0435	10	0.22109	T	0.4	-28.3397	11.2311	0.48912	0.4481:0.0:0.5519:0.0	.	84;84	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	L	84	ENSP00000319785:F84L;ENSP00000297737:F84L;ENSP00000428423:F84L	ENSP00000297737:F84L	F	-	3	2	ZMAT4	40674018	1.000000	0.71417	0.939000	0.37840	0.933000	0.57130	1.275000	0.33144	-0.273000	0.09246	0.655000	0.94253	TTC		0.498	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		T	40554861	G	T	40554861	3	4	59	1	0	0	0	0	1	0	0	0	17691	1281	45	5	453	5	ZMAT4	8	40554861	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		40554861	105809161	53	3829											
MCM4	4173	broad.mit.edu	37	chr8	48874694	48874694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagggaaccccaagaagtgGtgttaggggcacacctgtga	12	6	15	8	0	0	3	0	1	0	2	0	4	0	4	3	4	1	2	3	4	4	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:48874694G>C	ENST00000262105.2	+	3	526	c.317G>C	c.(316-318)gGt>gCt	p.G106A	MCM4_ENST00000523944.1_Missense_Mutation_p.G106A|PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	106					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAAGAAGTGGTGTTAGGGGC	0.527																																						uc003xqk.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(316-318)gGt>gCt		Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.							67	67	67					8																	48874694		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874694G>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.317G>C	8.37:g.48874694G>C	ENSP00000262105:p.Gly106Ala					PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.G106A|MCM4_uc011ldi.2_Missense_Mutation_p.G93A|MCM4_uc010lxw.2_Intron	p.G106A	NM_182746	NP_877423	P33991	MCM4_HUMAN			3	1143	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	106					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.317G>C	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638817	0.47153	.	.	ENSG00000104738	ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000519170	T;T	0.02787	4.16;4.16	5.18	2.33	0.28932	.	0.095802	0.64402	D	0.000001	T	0.06645	0.0170	M	0.77486	2.375	0.80722	D	1	B;B	0.14438	0.005;0.01	B;B	0.15870	0.014;0.014	T	0.16453	-1.0402	10	0.66056	D	0.02	-13.0978	16.5359	0.84373	0.0:0.3678:0.6322:0.0	.	106;106	B3KMX0;P33991	.;MCM4_HUMAN	A	106;106;106;93;66;56	ENSP00000430194:G106A;ENSP00000262105:G106A	ENSP00000262105:G106A	G	+	2	0	MCM4	49037247	1.000000	0.71417	0.088000	0.20740	0.965000	0.64279	5.620000	0.67736	0.257000	0.21650	0.561000	0.74099	GGT		0.527	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		C	48874694	G	C	48874694	3	2	59	1	0	0	0	0	1	0	0	0	9389	1261	44	5	327	5	MCM4	8	48874694	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	8319833	48874694	97489328	54	3830											
RPL7	6129	broad.mit.edu	37	chr8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggcacagcaggaacctcCttcttcttctctctaacgtt																								rs556746526	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:74205020_74205022delCTT	ENST00000352983.2	-	2	310_312	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396465.1_5'UTR|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396466.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	9	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414														4	0.000798722	0	0	5008	,	,		22796	0		0.002	False		,,,				2504	0.002					uc003xzg.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(25-27)aagdel		Homo sapiens ribosomal protein L7 (RPL7), mRNA.				1,4257		0,1,2128						-2.6	0.9			58	20,8230		0,20,4105	no	coding	RPL7	NM_000971.3		0,21,6233	A1A1,A1R,RR		0.2424,0.0235,0.1679				21,12487				SO:0001651	inframe_deletion	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205020_74205022delCTT	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.25_27delAAG	8.37:g.74205026_74205028delCTT	ENSP00000339795:p.Lys9del					RDH10_uc003xzi.3_5'Flank	p.K9del	NM_000971	NP_000962	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		1	47_49	-	Breast(64;0.0954)		9			4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	In_Frame_Del	DEL	ENST00000352983.2	37	c.25_27delAAG	CCDS6212.1																																																																																				0.414	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		-	74205022	CTT	-	74205020	7	5	59	1	0	1	0	1	0	0	0	0	13599	680	24	0	739	0	RPL7	8	74205020	In_Frame_Del	DEL	CTT	TCGA-06-0743-01A-01D-1492-08	25330326	74205020	72159002	55	3831											
VPS13B	157680	broad.mit.edu	37	chr8	100568723	100568723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagatcctggatcagaaatCgaagacagacaataccaaat	18	6	8	9	2	1	4	1	0	0	4	3	7	2	5	2	1	1	0	2	1	5	1	rs543837370		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:100568723C>T	ENST00000358544.2	+	31	4977	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I1597I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1622					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCAGAAATCGAAGACAGAC	0.398													C|||	1	0.000199681	8e-04	0	5008	,	,		19826	0		0	False		,,,				2504	0				Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4864-4866)atC>atT		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							68	64	66					8																	100568723		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100568723C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4866C>T	8.37:g.100568723C>T						VPS13B_uc003yiw.3_Silent_p.I1597I	p.I1622I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		30	4977	+	Breast(36;3.73e-07)		1622					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.4866C>T	CCDS6280.1																																																																																				0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100568723	C	T	100568723	2	4	59	1	0	0	0	0	0	0	0	1	17187	874	31	2		2	VPS13B	8	100568723	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	26363703	100568723	45795299	56	3832											
CSMD3	114788	broad.mit.edu	37	chr8	113702122	113702122	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgggtatgtttgcagaCcattggttattctcttgaca	9	15	10	7	0	1	3	0	1	1	2	2	3	1	3	1	2	1	4	1	2	2	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:113702122C>T	ENST00000297405.5	-	14	2374	c.2130G>A	c.(2128-2130)tgG>tgA	p.W710*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W710*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W606*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W670*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	710	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTGCAGACCATTGGTTAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2128-2130)tgG>tgA		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							142	138	140					8																	113702122		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113702122C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2130G>A	8.37:g.113702122C>T	ENSP00000297405:p.Trp710*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W606*	p.W710*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			13	2289	-			710			Sushi 3.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2130G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	43	10.523089	0.99421	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	.	.	.	X	670;710;50;606;710	.	ENSP00000297405:W710X	W	-	3	0	CSMD3	113771298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.688000	0.91661	0.650000	0.86243	TGG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113702122	C	T	113702122	4	4	59	1	0	0	0	0	0	1	0	0	3946	508	18	3	9225	3	CSMD3	8	113702122	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	13133399	113702122	32661900	57	3833											
DENND4C	55667	broad.mit.edu	37	chr9	19360386	19360386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcatcaatcaacatccaAtcattttctggaacctcgtt	11	15	3	12	1	5	0	4	0	1	0	7	1	6	1	2	1	2	1	2	1	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:19360386A>G	ENST00000380432.2	+	24	4483	c.4450A>G	c.(4450-4452)Atc>Gtc	p.I1484V	DENND4C_ENST00000434457.2_Missense_Mutation_p.I1769V|DENND4C_ENST00000602925.1_Missense_Mutation_p.I1720V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1484					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCAACATCCAATCATTTTCTG	0.388																																						uc003znq.3																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4450-4452)Atc>Gtc		Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.							178	164	169					9																	19360386		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19360386A>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4450A>G	9.37:g.19360386A>G	ENSP00000369797:p.Ile1484Val					DENND4C_uc011lnc.2_Missense_Mutation_p.I814V|DENND4C_uc011lnd.2_Missense_Mutation_p.I772V|DENND4C_uc003znr.3_Missense_Mutation_p.I772V|DENND4C_uc003zns.3_Missense_Mutation_p.I666V	p.I1484V	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			23	4530	+			1484					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.4450A>G		.	.	.	.	.	.	.	.	.	.	A	25.8	4.676766	0.88445	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.32753	1.44;1.44	5.89	5.89	0.94794	.	0.092414	0.64402	D	0.000001	T	0.56891	0.2016	M	0.75264	2.295	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.91635	0.999;0.993;0.984	T	0.57353	-0.7826	9	.	.	.	-11.6964	16.3127	0.82898	1.0:0.0:0.0:0.0	.	814;666;1484	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	V	1484;957;666;814;957;666;481	ENSP00000305795:I957V;ENSP00000443804:I814V	.	I	+	1	0	DENND4C	19350386	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.313000	0.96297	2.246000	0.74042	0.533000	0.62120	ATC		0.388	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		G	19360386	A	G	19360386	3	3	59	1	0	0	0	0	1	0	0	0	4435	101	4	4	4544	4	DENND4C	9	19360386	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08		19360386	121853045	58	3834											
C9orf84	158401	broad.mit.edu	37	chr9	114462255	114462255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacatccagttcttcagaGtttagcccaaatgaaaccaa	14	12	5	10	0	2	2	1	1	1	1	3	2	3	2	3	0	3	2	3	0	5	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:114462255G>A	ENST00000318737.4	-	22	3098	c.2970C>T	c.(2968-2970)aaC>aaT	p.N990N	C9orf84_ENST00000394777.4_Silent_p.N916N|C9orf84_ENST00000394779.3_Silent_p.N951N|C9orf84_ENST00000374287.3_Silent_p.N990N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	990										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCTTCAGAGTTTAGCCCAA	0.313																																						uc004bfr.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2968-2970)aaC>aaT		Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.							108	113	111					9																	114462255		2203	4298	6501	SO:0001819	synonymous_variant	158401							g.chr9:114462255G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2970C>T	9.37:g.114462255G>A						C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.N951N|C9orf84_uc010mug.3_Silent_p.N901N	p.N990N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			21	3105	-			990					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.2970C>T	CCDS6781.3																																																																																				0.313	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		A	114462255	G	A	114462255	2	1	59	1	0	0	0	0	0	0	0	1	2500	1020	36	3		3	C9orf84	9	114462255	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	95101869	114462255	26751176	59	3835											
LRIT1	26103	broad.mit.edu	37	chr10	85992166	85992166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgcccaaagaccgcGtagaggacactgaaggcagt	11	6	13	11	2	0	3	0	1	0	2	0	4	0	4	2	2	2	3	2	2	3	1	rs142074653	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:85992166G>A	ENST00000372105.3	-	4	1410	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	463	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)		p.Y463Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CAAAGACCGCGTAGAGGACAC	0.582													A|||	13	0.00259585	0.0098	0	5008	,	,		21698	0		0	False		,,,				2504	0					uc001kcz.1																			1	Substitution - coding silent(1)	p.Y463Y(2)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1387-1389)taC>taT		Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.		A		37,4369	822.4+/-416.4	0,37,2166	81	60	67		1389	-6.1	0	10	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	LRIT1	NM_015613.2		0,37,6466	AA,AG,GG		0.0,0.8398,0.2845		463/624	85992166	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992166G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1389C>T	10.37:g.85992166G>A							p.Y463Y	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			3	1411	-			463			Fibronectin type-III.		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1389C>T	CCDS7373.1																																																																																				0.582	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		A	85992166	G	A	85992166	2	1	59	1	0	0	0	0	0	0	0	1	8947	1140	40	1		1	LRIT1	10	85992166	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		85992166	49542581	60	3836											
PTEN	5728	broad.mit.edu	37	chr10	89692785	89692785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagttgcacaatatccttTtgaagaccataacccaccac	14	9	4	14	0	0	2	0	1	0	1	1	2	1	2	4	0	2	2	4	0	4	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89692785T>C	ENST00000371953.3	+	5	1626	c.269T>C	c.(268-270)tTt>tCt	p.F90S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	90	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F90S(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATCCTTTTGAAGACCAT	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.F90fs*9(4)|p.Y27fs*1(2)|p.F90S(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90_P95>L(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(268-270)tTt>tCt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							108	98	102					10																	89692785		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692785T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.269T>C	10.37:g.89692785T>C	ENSP00000361021:p.Phe90Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.F90S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1301	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	90			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.269T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.464000	0.84425	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98045	1.0384	9	.	.	.	-3.6289	14.8407	0.70220	0.0:0.0:0.0:1.0	.	90	P60484	PTEN_HUMAN	S	90	ENSP00000361021:F90S	.	F	+	2	0	PTEN	89682765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692785	T	C	89692785	3	2	59	1	0	0	0	0	1	0	0	0	12738	1841	64	4	287	4	PTEN	10	89692785	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	3700619	89692785	45841962	61	3837											
PTEN	5728	broad.mit.edu	37	chr10	89720847	89720847	+	Frame_Shift_Del	DEL	C	C	-																															caaagcaaataaagacaaagCcaaccgatacttttctccaa																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89720847delC	ENST00000371953.3	+	8	2355	c.998delC	c.(997-999)gccfs	p.A333fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	333	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGACAAAGCCAACCGATAC	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(997-999)gccfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							65	68	67					10																	89720847		2203	4298	6501	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720847delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.998delC	10.37:g.89720847delC	ENSP00000361021:p.Ala333fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.A333fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2030	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	333			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.998delC	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720847	C	-	89720847	7	5	59	1	0	1	0	1	0	0	0	0	12738	739	26	0	1028	0	PTEN	10	89720847	Frame_Shift_Del	DEL	C	TCGA-06-0743-01A-01D-1492-08	28062	89720847	45813900	62	3838											
SORCS1	114815	broad.mit.edu	37	chr10	108923743	108923743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacgctgctgttgtggccaGaccagtggaccatggcttgg	6	10	14	11	1	1	1	1	0	0	1	1	2	1	2	3	4	1	4	3	4	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:108923743G>C	ENST00000263054.6	-	1	549	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SORCS1_ENST00000344440.6_Missense_Mutation_p.S181C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	181					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTGTGGCCAGACCAGTGGAC	0.562																																						uc001kyl.3																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(541-543)tCt>tGt		Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.							68	60	63					10																	108923743		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923743G>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.542C>G	10.37:g.108923743G>C	ENSP00000263054:p.Ser181Cys					SORCS1_uc021pxw.1_Missense_Mutation_p.S181C|SORCS1_uc009xxs.3_Missense_Mutation_p.S181C|SORCS1_uc001kym.3_Missense_Mutation_p.S181C|SORCS1_uc001kyn.2_Missense_Mutation_p.S181C|SORCS1_uc001kyo.3_Missense_Mutation_p.S181C	p.S181C	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	0	724	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	181					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.542C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273480	0.80580	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.23348	1.91;1.91	5.16	5.16	0.70880	.	0.000000	0.45606	D	0.000343	T	0.38825	0.1055	L	0.34521	1.04	0.42398	D	0.992557	D;D;D;D;D	0.76494	0.998;0.999;0.997;0.998;0.997	P;D;D;P;D	0.66497	0.816;0.944;0.912;0.879;0.912	T	0.04255	-1.0965	9	.	.	.	-5.952	17.3761	0.87392	0.0:0.0:1.0:0.0	.	181;181;181;181;181	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	181	ENSP00000263054:S181C;ENSP00000345964:S181C	.	S	-	2	0	SORCS1	108913733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.733000	0.68571	2.666000	0.90696	0.655000	0.94253	TCT		0.562	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		C	108923743	G	C	108923743	3	2	59	1	0	0	0	0	1	0	0	0	14930	942	33	5	3302	5	SORCS1	10	108923743	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	19202896	108923743	26611004	63	3839											
SMC3	9126	broad.mit.edu	37	chr10	112344031	112344031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagaagaaagggataagtgGattaaaaaggaactcaagtc	21	6	11	3	0	1	2	1	0	0	2	2	5	1	5	0	3	1	0	0	3	9	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:112344031G>T	ENST00000361804.4	+	13	1308	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	394					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGGATAAGTGGATTAAAAAGG	0.383																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1180-1182)tgG>tgT		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							119	121	120					10																	112344031		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112344031G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1182G>T	10.37:g.112344031G>T	ENSP00000354720:p.Trp394Cys						p.W394C	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	12	1308	+		Breast(234;0.0848)|Lung NSC(174;0.238)	394					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1182G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038265	0.75617	.	.	ENSG00000108055	ENST00000361804	T	0.76186	-1.0	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.88882	0.3340	10	0.39692	T	0.17	.	19.973	0.97292	0.0:0.0:1.0:0.0	.	394	Q9UQE7	SMC3_HUMAN	C	394	ENSP00000354720:W394C	ENSP00000354720:W394C	W	+	3	0	SMC3	112334021	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.405000	0.97313	2.725000	0.93324	0.460000	0.39030	TGG		0.383	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112344031	G	T	112344031	3	4	59	1	0	0	0	0	1	0	0	0	14784	1183	41	5	1232	5	SMC3	10	112344031	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	3420288	112344031	23190716	64	3840											
DMBT1	1755	broad.mit.edu	37	chr10	124399762	124399762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtatggcaattttgaCgtgaacatttccttttatac	10	16	7	8	1	0	2	0	2	0	0	2	2	2	2	2	1	2	2	2	1	5	7			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:124399762C>T	ENST00000338354.3	+	52	6868	c.6762C>T	c.(6760-6762)gaC>gaT	p.D2254D	DMBT1_ENST00000368909.3_Silent_p.D2254D|DMBT1_ENST00000359586.6_Silent_p.D974D|DMBT1_ENST00000368956.2_Silent_p.D1626D|DMBT1_ENST00000344338.3_Silent_p.D2244D|DMBT1_ENST00000368955.3_Silent_p.D2244D|DMBT1_ENST00000330163.4_Silent_p.D1626D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2254	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAATTTTGACGTGAACATTT	0.463																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6760-6762)gaC>gaT		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							262	246	251					10																	124399762		2039	4185	6224	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399762C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6762C>T	10.37:g.124399762C>T						DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	p.D2254D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			51	6868	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2254			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6762C>T																																																																																					0.463	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124399762	C	T	124399762	2	4	59	1	0	0	0	0	0	0	0	1	4577	535	19	1		1	DMBT1	10	124399762	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	12055731	124399762	11134985	65	3841											
MUC5B	727897	broad.mit.edu	37	chr11	1267425	1267425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccggagaccacccacacCtccacagtgctgaccacgaa	12	4	7	18	2	0	2	0	1	0	1	2	4	2	2	6	1	1	1	6	1	1	0	rs375109401		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267425C>T	ENST00000529681.1	+	31	9373	c.9315C>T	c.(9313-9315)acC>acT	p.T3105T	MUC5B_ENST00000447027.1_Silent_p.T3108T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3105	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.637																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9313-9315)acC>acT		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.		C		0,4198		0,0,2099	63	89	80		9315	0.6	0	11		80	1,8431		0,1,4215	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6314	TT,TC,CC		0.0119,0.0,0.0079		3105/5763	1267425	1,12629	2099	4216	6315	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267425C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9315C>T	11.37:g.1267425C>T							p.T3105T	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	9374	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3105	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9315C>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1267425	C	T	1267425	2	4	59	1	0	0	0	0	0	0	0	1	9979	668	24	3		3	MUC5B	11	1267425	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08		1267425	133739091	66	3842											
MUC5B	727897	broad.mit.edu	37	chr11	1267929	1267929	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctctactccagagacTgtccacacctccacagtgct	8	9	5	19	0	1	1	0	0	1	1	5	2	5	1	6	0	2	1	6	0	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267929T>C	ENST00000529681.1	+	31	9877	c.9819T>C	c.(9817-9819)acT>acC	p.T3273T	MUC5B_ENST00000447027.1_Silent_p.T3276T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3273	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGAGACTGTCCACACCT	0.642																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9817-9819)acT>acC		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							100	135	124					11																	1267929		2049	4166	6215	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267929T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9819T>C	11.37:g.1267929T>C							p.T3273T	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	9878	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3273	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9819T>C	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1267929	T	C	1267929	2	2	59	1	0	0	0	0	0	0	0	1	9979	1567	55	4		4	MUC5B	11	1267929	Silent	SNP	T	TCGA-06-0743-01A-01D-1492-08	504	1267929	133738587	67	3843											
MUC5B	727897	broad.mit.edu	37	chr11	1271196	1271196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccggagaccacccacacCtccacagtgctgaccacgaa	12	4	7	18	2	0	2	0	1	0	1	2	4	2	2	6	1	1	1	6	1	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1271196C>T	ENST00000529681.1	+	31	13144	c.13086C>T	c.(13084-13086)acC>acT	p.T4362T	MUC5B_ENST00000447027.1_Silent_p.T4365T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4362	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.652																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13084-13086)acC>acT		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							74	96	89					11																	1271196		2129	4210	6339	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271196C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13086C>T	11.37:g.1271196C>T							p.T4362T	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	13145	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4362			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.13086C>T	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1271196	C	T	1271196	2	4	59	1	0	0	0	0	0	0	0	1	9979	668	24	3		3	MUC5B	11	1271196	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	3267	1271196	133735320	68	3844											
PAMR1	25891	broad.mit.edu	37	chr11	35454286	35454286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccagccacagtgatgtggGactcctggaaggaagtgctg	10	7	15	9	0	0	1	0	1	0	0	1	4	1	4	3	3	3	1	3	3	2	0	rs554767403		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:35454286G>A	ENST00000378880.2	-	11	2226	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	PAMR1_ENST00000532848.1_Missense_Mutation_p.S554F|PAMR1_ENST00000378878.3_Missense_Mutation_p.S483F|PAMR1_ENST00000278360.3_Missense_Mutation_p.S611F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	594	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTGATGTGGGACTCCTGGAA	0.607													G|||	1	0.000199681	0	0	5008	,	,		21176	0		0.001	False		,,,				2504	0					uc001mwf.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1831-1833)tCc>tTc		Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.							72	63	66					11																	35454286		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454286G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1781C>T	11.37:g.35454286G>A	ENSP00000368158:p.Ser594Phe					PAMR1_uc001mwg.3_Missense_Mutation_p.S594F|PAMR1_uc010rew.2_Missense_Mutation_p.S483F|PAMR1_uc010rex.2_Missense_Mutation_p.S554F	p.S611F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN			11	1875	-			594			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1832C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	8.308	0.821534	0.16678	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.47	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.726208	0.14491	N	0.316318	T	0.82259	0.4998	L	0.46741	1.465	0.09310	N	1	B;B;B	0.30763	0.294;0.096;0.001	B;B;B	0.24974	0.057;0.055;0.004	T	0.74290	-0.3713	10	0.87932	D	0	.	4.0122	0.09627	0.2917:0.0:0.5473:0.1611	.	483;594;611	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	F	611;594;483;554;571	ENSP00000278360:S611F;ENSP00000368158:S594F;ENSP00000368156:S483F;ENSP00000433868:S554F;ENSP00000432591:S571F	ENSP00000278360:S611F	S	-	2	0	PAMR1	35410862	0.049000	0.20398	0.158000	0.22627	0.659000	0.38960	2.156000	0.42310	0.686000	0.31488	0.561000	0.74099	TCC		0.607	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		A	35454286	G	A	35454286	3	1	59	1	0	0	0	0	1	0	0	0	11413	1174	41	3	385	3	PAMR1	11	35454286	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	34183090	35454286	99552230	69	3845											
LRP4	4038	broad.mit.edu	37	chr11	46880763	46880763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggcccccccgtgagcttCgcagttgcttgaggtcatcc	5	9	13	14	2	1	2	1	2	0	0	3	3	2	3	4	3	2	4	4	3	0	3	rs146864522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:46880763C>T	ENST00000378623.1	-	38	5731	c.5489G>A	c.(5488-5490)cGa>cAa	p.R1830Q	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1830					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCGTGAGCTTCGCAGTTGCTT	0.572																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5488-5490)cGa>cAa		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	112	104	106		5489	6.1	1	11	dbSNP_134	106	0,8598		0,0,4299	no	missense	LRP4	NM_002334.3	43	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign	1830/1906	46880763	1,12999	2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880763C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5489G>A	11.37:g.46880763C>T	ENSP00000367888:p.Arg1830Gln					LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.R72Q	p.R1830Q	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	37	5732	-			1830					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.5489G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425188	0.62733	2.27E-4	0.0	ENSG00000134569	ENST00000378623	D	0.90261	-2.64	6.06	6.06	0.98353	.	0.064915	0.64402	D	0.000006	T	0.78916	0.4359	N	0.14661	0.345	0.42444	D	0.992721	P	0.43352	0.804	B	0.23018	0.043	T	0.83247	-0.0055	10	0.72032	D	0.01	.	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	1830	O75096	LRP4_HUMAN	Q	1830	ENSP00000367888:R1830Q	ENSP00000367888:R1830Q	R	-	2	0	LRP4	46837339	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	4.661000	0.61518	2.882000	0.98803	0.655000	0.94253	CGA		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46880763	C	T	46880763	3	4	59	1	0	0	0	0	1	0	0	0	8959	884	31	2	232	2	LRP4	11	46880763	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	11426477	46880763	88125753	70	3846											
UNC93B1	81622	broad.mit.edu	37	chr11	67765211	67765211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaggtttccgctccgCgggagcgtccgcagaaccgt	8	7	13	13	6	0	2	0	1	0	1	3	3	3	3	4	2	2	3	4	2	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:67765211C>T	ENST00000227471.2	-	7	919	c.840G>A	c.(838-840)ccG>ccA	p.P280P	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	280					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TTCCGCTCCGCGGGAGCGTCC	0.647																																						uc001omw.1																			0											c.(838-840)ccG>ccA		Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.							31	40	37					11																	67765211		2063	4198	6261	SO:0001819	synonymous_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67765211C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.840G>A	11.37:g.67765211C>T							p.P280P	NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN			6	920	-			280					O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37	c.840G>A																																																																																					0.647	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		T	67765211	C	T	67765211	2	4	59	1	0	0	0	0	0	0	0	1	16994	755	27	1		1	UNC93B1	11	67765211	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	20884448	67765211	67241305	71	3847											
CNTN5	53942	broad.mit.edu	37	chr11	100126601	100126601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcccaatctcctcctacaaCcttcaagctcgcagcccatt	10	9	4	18	1	2	0	1	0	1	0	5	0	3	0	5	0	5	2	5	0	4	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:100126601C>A	ENST00000524871.1	+	17	2405	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.N705K|CNTN5_ENST00000279463.3_Missense_Mutation_p.N705K|CNTN5_ENST00000418526.2_Missense_Mutation_p.N631K|CNTN5_ENST00000527185.1_Missense_Mutation_p.N705K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	705	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCTACAACCTTCAAGCTC	0.507																																						uc001pga.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2113-2115)aaC>aaA		Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.							100	111	107					11																	100126601		2011	4184	6195	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100126601C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2115C>A	11.37:g.100126601C>A	ENSP00000435637:p.Asn705Lys					CNTN5_uc001pfz.3_Missense_Mutation_p.N705K|CNTN5_uc021qpb.1_Missense_Mutation_p.N705K|CNTN5_uc021qpc.1_Missense_Mutation_p.N631K|CNTN5_uc010ruk.2_5'UTR	p.N705K	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	16	2619	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	705			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2115C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889587	0.72524	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.57	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.040227	0.85682	D	0.000000	T	0.61085	0.2319	L	0.45228	1.405	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62277	-0.6888	10	0.72032	D	0.01	.	8.1975	0.31405	0.0:0.7959:0.0:0.2041	.	631;705	O94779-2;O94779	.;CNTN5_HUMAN	K	705;705;705;631;705	ENSP00000433575:N705K;ENSP00000436185:N705K;ENSP00000435637:N705K;ENSP00000393229:N631K;ENSP00000279463:N705K	ENSP00000279463:N705K	N	+	3	2	CNTN5	99631811	0.992000	0.36948	1.000000	0.80357	0.940000	0.58332	0.689000	0.25437	2.623000	0.88846	0.561000	0.74099	AAC		0.507	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	100126601	C	A	100126601	3	1	59	1	0	0	0	0	1	0	0	0	3644	506	18	5	2173	5	CNTN5	11	100126601	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	32361390	100126601	34879915	72	3848											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992139	1992139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttctcctgggtgtccGccagcgttgagatctgcgtg	4	12	13	12	4	3	1	1	1	2	1	5	2	4	1	3	1	2	2	3	1	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:1992139G>A	ENST00000382722.5	-	13	1741	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A396V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A460V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A460V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A345V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A396V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	460	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTGGGTGTCCGCCAGCGTTGA	0.632																																					Colon(2;101 179 21030 23310 28141)	uc021qsx.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1378-1380)gCg>gTg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.							70	73	72					12																	1992139		2120	4232	6352	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1992139G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1379C>T	12.37:g.1992139G>A	ENSP00000372169:p.Ala460Val					CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V	p.A460V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	12	1610	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	460			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1379C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341466	0.95783	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.13307	2.6	5.28	5.28	0.74379	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	T	0.42224	-0.9464	10	0.72032	D	0.01	.	18.9176	0.92512	0.0:0.0:1.0:0.0	.	460;460	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	V	396;460;460	ENSP00000372169:A460V	ENSP00000280663:A460V	A	-	2	0	CACNA2D4	1862400	1.000000	0.71417	0.813000	0.32504	0.840000	0.47671	9.476000	0.97823	2.468000	0.83385	0.462000	0.41574	GCG		0.632	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			A	1992139	G	A	1992139	3	1	59	1	0	0	0	0	1	0	0	0	2551	1087	38	1	2138	1	CACNA2D4	12	1992139	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		1992139	131859756	73	3849											
PTPRO	5800	broad.mit.edu	37	chr12	15654855	15654855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtacttcccatggaataCgaaaataacagtacactcag	16	8	7	10	2	1	0	1	0	0	0	2	2	2	1	1	1	5	2	1	1	7	5	rs199991892		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:15654855C>T	ENST00000281171.4	+	5	1293	c.963C>T	c.(961-963)taC>taT	p.Y321Y	PTPRO_ENST00000348962.2_Silent_p.Y321Y|PTPRO_ENST00000543886.1_Silent_p.Y321Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	321					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATGGAATACGAAAATAACA	0.448																																						uc001rcv.2																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(961-963)taC>taT		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.							85	70	75					12																	15654855		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654855C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.963C>T	12.37:g.15654855C>T						PTPRO_uc001rcw.2_Silent_p.Y321Y|PTPRO_uc001rcu.2_Silent_p.Y321Y	p.Y321Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			4	1433	+		Hepatocellular(102;0.244)	321					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.963C>T	CCDS8675.1																																																																																				0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			T	15654855	C	T	15654855	2	4	59	1	0	0	0	0	0	0	0	1	12809	547	19	1		1	PTPRO	12	15654855	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	13662716	15654855	118197040	74	3850											
MLL2	8085	broad.mit.edu	37	chr12	49416373	49416373	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctctgccagctcatacCtgctcttcgtagattttctc	5	14	6	16	1	4	1	1	0	3	1	6	1	4	1	4	0	4	3	4	0	2	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49416373C>G	ENST00000301067.7	-	51	16337	c.16338G>C	c.(16336-16338)caG>caC	p.Q5446H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5446	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGCTCATACCTGCTCTTCGT	0.542																																						uc001rta.4										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.e51+1		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							162	164	163					12																	49416373		2021	4186	6207	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49416373C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16338+1G>C	12.37:g.49416373C>G		HNSCC(34;0.089)					p.Q5446_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			51	16338	-			5446			SET.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16338_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663388	0.29515	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.82255	-1.59;-1.59	5.06	5.06	0.68205	SET domain (3);	0.000000	0.33457	N	0.004892	D	0.88647	0.6493	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87585	0.2487	9	.	.	.	.	17.5657	0.87919	0.0:1.0:0.0:0.0	.	5446	O14686	MLL2_HUMAN	H	5446;127	ENSP00000301067:Q5446H;ENSP00000435714:Q127H	.	Q	-	3	2	MLL2	47702640	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.694000	0.68272	2.522000	0.85027	0.591000	0.81541	CAG		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation	G	49416373	C	G	49416373	5	3	59	1	0	0	0	0	0	0	1	0	9621	695	24	5	291	5	MLL2	12	49416373	Splice_Site	SNP	C	TCGA-06-0743-01A-01D-1492-08	33761518	49416373	84435522	75	3851											
MLL2	8085	broad.mit.edu	37	chr12	49432216	49432216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagaggattggggcGgccaagctcagtgctcgacg	8	5	17	11	3	1	1	1	0	0	1	2	3	1	2	2	5	2	2	2	5	1	1	rs544530436		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49432216G>A	ENST00000301067.7	-	34	8922	c.8923C>T	c.(8923-8925)Cgc>Tgc	p.R2975C	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2975	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGATTGGGGCGGCCAAGCTCA	0.577													G|||	1	0.000199681	0	0	5008	,	,		16524	0.001		0	False		,,,				2504	0					uc001rta.4										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(8923-8925)Cgc>Tgc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							64	68	67					12																	49432216		1960	4137	6097	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49432216G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8923C>T	12.37:g.49432216G>A	ENSP00000301067:p.Arg2975Cys	HNSCC(34;0.089)					p.R2975C	NM_003482	NP_003473	O14686	MLL2_HUMAN			33	8923	-			2975			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8923C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530318	0.27387	.	.	ENSG00000167548	ENST00000301067	T	0.79554	-1.28	5.73	5.73	0.89815	.	0.000000	0.38837	N	0.001560	T	0.80065	0.4555	N	0.14661	0.345	0.43708	D	0.996178	D	0.89917	1.0	P	0.59221	0.854	T	0.83125	-0.0116	10	0.87932	D	0	.	17.2028	0.86910	0.0:0.0:1.0:0.0	.	2975	O14686	MLL2_HUMAN	C	2975	ENSP00000301067:R2975C	ENSP00000301067:R2975C	R	-	1	0	MLL2	47718483	0.074000	0.21230	1.000000	0.80357	0.964000	0.63967	0.986000	0.29590	2.882000	0.98803	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49432216	G	A	49432216	3	1	59	1	0	0	0	0	1	0	0	0	9621	1116	39	2	7774	2	MLL2	12	49432216	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	15843	49432216	84419679	76	3852											
KCNH3	23416	broad.mit.edu	37	chr12	49935518	49935518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcagcgaaaccaagaaccGagggggccccgacagatgga	14	2	13	12	3	1	2	1	0	0	2	1	6	1	3	4	3	3	0	4	3	3	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49935518G>A	ENST00000257981.6	+	3	676	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	139	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAAGAACCGAGGGGGCCCC	0.592																																						uc001ruh.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(415-417)cGa>cAa		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.							130	147	142					12																	49935518		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49935518G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.416G>A	12.37:g.49935518G>A	ENSP00000257981:p.Arg139Gln					KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	p.R139Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			2	676	+			139			PAC.		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.416G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656684	0.67586	.	.	ENSG00000135519	ENST00000257981	D	0.98684	-5.07	5.1	5.1	0.69264	PAS-associated, C-terminal (1);	0.000000	0.36234	N	0.002709	D	0.96722	0.8930	L	0.49350	1.555	0.35872	D	0.828292	P	0.45011	0.848	B	0.37692	0.256	D	0.98272	1.0504	10	0.28530	T	0.3	.	16.4123	0.83722	0.0:0.0:1.0:0.0	.	139	Q9ULD8	KCNH3_HUMAN	Q	139	ENSP00000257981:R139Q	ENSP00000257981:R139Q	R	+	2	0	KCNH3	48221785	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.008000	0.57103	2.825000	0.97269	0.655000	0.94253	CGA		0.592	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		A	49935518	G	A	49935518	3	1	59	1	0	0	0	0	1	0	0	0	8033	1058	37	2	426	2	KCNH3	12	49935518	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	503302	49935518	83916377	77	3853											
CRADD	8738	broad.mit.edu	37	chr12	94243772	94243772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgactgggatcccctcgCacatcctcaacagctcccca	9	8	7	17	1	1	1	1	1	0	0	5	3	4	2	5	1	2	2	5	1	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:94243772C>A	ENST00000542893.2	+	3	643	c.325C>A	c.(325-327)Cac>Aac	p.H109N	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.H109N|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GATCCCCTCGCACATCCTCAA	0.562																																						uc001tda.3																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(325-327)Cac>Aac		Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.							62	63	62					12																	94243772		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94243772C>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.325C>A	12.37:g.94243772C>A	ENSP00000439068:p.His109Asn					CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	p.H109N	NM_003805	NP_003796	P78560	CRADD_HUMAN			2	429	+			109					B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.325C>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590693	0.13812	.	.	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.93426	-3.22;-3.22	5.86	4.97	0.65823	Death (1);DEATH-like (1);	0.610166	0.18862	N	0.129090	D	0.87787	0.6265	L	0.54323	1.7	0.18873	N	0.999981	P	0.34462	0.454	B	0.26614	0.071	T	0.76176	-0.3055	10	0.15952	T	0.53	-30.7888	6.6342	0.22874	0.146:0.6975:0.0:0.1565	.	109	P78560	CRADD_HUMAN	N	109	ENSP00000327647:H109N;ENSP00000439068:H109N	ENSP00000327647:H109N	H	+	1	0	CRADD	92767903	0.009000	0.17119	0.016000	0.15963	0.018000	0.09664	1.143000	0.31553	1.471000	0.48121	0.563000	0.77884	CAC		0.562	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		A	94243772	C	A	94243772	3	1	59	1	0	0	0	0	1	0	0	0	3845	710	25	5	331	5	CRADD	12	94243772	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	44308254	94243772	39608123	78	3854											
CUX2	23316	broad.mit.edu	37	chr12	111748245	111748245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagaggaggagcagctGgacacggcagagatcgcctt	10	4	18	9	2	0	2	0	0	0	2	1	6	0	5	1	6	2	4	1	6	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:111748245G>A	ENST00000261726.6	+	15	1813	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	553					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGCAGCTGGACACGGCAG	0.701																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1657-1659)ctG>ctA		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							31	36	35					12																	111748245		2087	4211	6298	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748245G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1659G>A	12.37:g.111748245G>A							p.L553L	NM_015267	NP_056082	O14529	CUX2_HUMAN			14	1813	+			553					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1659G>A	CCDS41837.1																																																																																				0.701	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111748245	G	A	111748245	2	1	59	1	0	0	0	0	0	0	0	1	4065	1335	47	3		3	CUX2	12	111748245	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	17504473	111748245	22103650	79	3855											
GPR133	283383	broad.mit.edu	37	chr12	131487822	131487822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacgccccaggtcacCgtggagggctcctctgccat	6	6	13	16	2	2	0	1	0	1	0	3	1	3	1	5	4	2	3	5	4	0	0	rs549833008		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:131487822C>T	ENST00000261654.5	+	10	1678	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	GPR133_ENST00000376682.4_Silent_p.T59T|GPR133_ENST00000535015.1_Silent_p.T405T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	373					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													C|||	1	0.000199681	0	0	5008	,	,		19774	0		0.001	False		,,,				2504	0					uc010tbm.2																			0		p.G404W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1213-1215)acC>acT		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							91	76	81					12																	131487822		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487822C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1119C>T	12.37:g.131487822C>T						GPR133_uc001uit.4_Silent_p.T373T	p.T405T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1774	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		373					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1215C>T	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131487822	C	T	131487822	2	4	59	1	0	0	0	0	0	0	0	1	6643	639	23	2		2	GPR133	12	131487822	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	19739577	131487822	2364073	80	3856											
TPTE2	93492	broad.mit.edu	37	chr13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataataagtcgtagaagtcGaactaaatgtgtccatctaa	17	11	7	6	2	1	1	0	0	1	1	4	2	2	1	1	0	1	1	1	0	9	5	rs538397448		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0	0	5008	,	,		18530	0.001		0	False		,,,				2504	0					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(529-531)Cga>Tga		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							35	34	34					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		A	20039688	G	A	20039688	4	1	59	1	0	0	0	0	0	1	0	0	16428	1066	37	2	1091	2	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		20039688	95130190	81	3857											
SPERT	220082	broad.mit.edu	37	chr13	46287387	46287387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgctgcgcgcagcaggccgCcctgccccggctgagccgca	4	4	14	19	6	0	1	0	1	0	0	1	1	0	1	5	2	4	5	5	2	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:46287387C>T	ENST00000310521.1	+	3	307	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SPERT_ENST00000378966.3_Missense_Mutation_p.A40V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	76						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CAGCAGGCCGCCCTGCCCCGG	0.662																																						uc001van.1																			0		p.A76T(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(226-228)gCc>gTc		Homo sapiens spermatid associated (SPERT), mRNA.							33	34	34					13																	46287387		2202	4298	6500	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287387C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.227C>T	13.37:g.46287387C>T	ENSP00000309189:p.Ala76Val					SPERT_uc001vao.2_Missense_Mutation_p.A40V	p.A76V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	307	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	76					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.227C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512227	0.44660	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.47177	0.85;0.86	5.04	4.2	0.49525	.	0.302095	0.24024	N	0.042254	T	0.33440	0.0863	N	0.22421	0.69	0.31299	N	0.688557	P;P	0.45531	0.705;0.86	B;B	0.41412	0.272;0.356	T	0.41734	-0.9492	10	0.56958	D	0.05	.	9.2291	0.37425	0.0:0.9027:0.0:0.0973	.	40;76	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	76;49;40	ENSP00000309189:A76V;ENSP00000368249:A40V	ENSP00000309189:A76V	A	+	2	0	SPERT	45185388	0.053000	0.20554	0.997000	0.53966	0.535000	0.34838	1.001000	0.29783	1.358000	0.45922	0.603000	0.83216	GCC		0.662	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		T	46287387	C	T	46287387	3	4	59	1	0	0	0	0	1	0	0	0	15038	739	26	3	237	3	SPERT	13	46287387	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	26247699	46287387	68882491	82	3858											
STRN3	29966	broad.mit.edu	37	chr14	31425409	31425409	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtccttcttcaggttctCttgaccttttctttcgcctt	4	20	5	12	1	4	1	1	1	3	0	7	1	5	1	3	1	0	1	3	1	1	9			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:31425409C>A	ENST00000357479.5	-	2	518	c.322G>T	c.(322-324)Gag>Tag	p.E108*	STRN3_ENST00000355683.5_Nonsense_Mutation_p.E108*	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	108					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTCAGGTTCTCTTGACCTTTT	0.328																																						uc001wqu.2																			0		p.Q107E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(322-324)Gag>Tag		Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.							167	145	152					14																	31425409		2203	4299	6502	SO:0001587	stop_gained	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31425409C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.322G>T	14.37:g.31425409C>A	ENSP00000350071:p.Glu108*					STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_Non-coding_Transcript	p.E108*	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	1	538	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		108					A2RTX7|A6NHZ7|Q9NRA5	Nonsense_Mutation	SNP	ENST00000357479.5	37	c.322G>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	c	37	6.577754	0.97680	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-27.4524	19.2538	0.93938	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000347909:E108X	E	-	1	0	STRN3	30495160	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.653000	0.83643	2.617000	0.88574	0.561000	0.74099	GAG		0.328	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		A	31425409	C	A	31425409	4	1	59	1	0	0	0	0	0	1	0	0	15329	922	32	5	2139	5	STRN3	14	31425409	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		31425409	75924131	83	3859											
MAX	4149	broad.mit.edu	37	chr14	65543330	65543330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggctgttgtctgaggagGggtagttggtctgcagttgg	6	12	19	4	0	2	2	0	1	2	1	2	3	2	3	0	6	1	6	0	6	1	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:65543330G>A	ENST00000358664.4	-	5	477	c.347C>T	c.(346-348)cCc>cTc	p.P116L	MAX_ENST00000284165.6_3'UTR|MAX_ENST00000555419.1_Missense_Mutation_p.P80L|MAX_ENST00000358402.4_Missense_Mutation_p.P107L|MAX_ENST00000557277.1_Missense_Mutation_p.P53L|MAX_ENST00000555932.1_Missense_Mutation_p.P30S|MAX_ENST00000341653.2_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	116					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCTGAGGAGGGGTAGTTGGT	0.587																																						uc001xif.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(346-348)cCc>cTc		Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.							208	192	197					14																	65543330		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65543330G>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.347C>T	14.37:g.65543330G>A	ENSP00000351490:p.Pro116Leu					MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_Non-coding_Transcript	p.P116L	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	517	-			116					A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.347C>T	CCDS9771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.457300|2.457300	0.43634|0.43634	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000358402;ENST00000358664;ENST00000555419;ENST00000557277;ENST00000556892|ENST00000555932	D;D;D;D;D|.	0.97352|.	-4.35;-4.32;-3.48;-1.73;-2.11|.	5.93|5.93	5.04|5.04	0.67666|0.67666	.|.	0.493257|0.493257	0.24693|0.24693	N|N	0.036366|0.036366	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.02656|0.13145	0.0;0.0|0.007	B;B|B	0.01281|0.13407	0.0;0.0|0.009	T|T	0.15492|0.15492	-1.0435|-1.0435	10|8	0.34782|.	T|.	0.22|.	-6.1467|-6.1467	13.7286|13.7286	0.62774|0.62774	0.0:0.0:0.8455:0.1545|0.0:0.0:0.8455:0.1545	.|.	107;116|30	P61244-2;P61244|G3V2N4	.;MAX_HUMAN|.	L|S	107;116;80;53;43|30	ENSP00000351175:P107L;ENSP00000351490:P116L;ENSP00000452405:P80L;ENSP00000450955:P53L;ENSP00000452206:P43L|.	ENSP00000351175:P107L|.	P|P	-|-	2|1	0|0	MAX|MAX	64613083|64613083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.006000|6.006000	0.70724|0.70724	1.498000|1.498000	0.48600|0.48600	-0.282000|-0.282000	0.10007|0.10007	CCC|CCT		0.587	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		A	65543330	G	A	65543330	3	1	59	1	0	0	0	0	1	0	0	0	9339	1232	43	3	224	3	MAX	14	65543330	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	34117921	65543330	41806210	84	3860											
PIF1	80119	broad.mit.edu	37	chr15	65114493	65114493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatggagggtggtgcccccGatgtggcaggctgccacccc	5	6	16	14	1	0	0	0	0	0	0	0	2	0	1	5	5	2	3	5	5	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:65114493G>A	ENST00000268043.4	-	4	883	c.789C>T	c.(787-789)atC>atT	p.I263I	PIF1_ENST00000333425.6_Silent_p.I263I|PIF1_ENST00000559239.1_Silent_p.I263I					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TGGTGCCCCCGATGTGGCAGG	0.612																																						uc002ant.2																			0				kidney(1)|lung(1)	2						c.(787-789)atC>atT		Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.							50	56	54					15																	65114493		2202	4299	6501	SO:0001819	synonymous_variant	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65114493G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.789C>T	15.37:g.65114493G>A						PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.3_3'UTR	p.I263I	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			3	855	-			263			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Silent	SNP	ENST00000268043.4	37	c.789C>T	CCDS10195.2																																																																																				0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		A	65114493	G	A	65114493	2	1	59	1	0	0	0	0	0	0	0	1	11883	1048	37	2		2	PIF1	15	65114493	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		65114493	37416899	85	3861											
PPL	5493	broad.mit.edu	37	chr16	4937215	4937215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacttcagtgaacttggcgGcaagtgctgcttcctgcaga	10	10	11	10	1	1	2	1	1	0	1	2	2	2	2	1	2	5	4	1	2	3	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:4937215G>A	ENST00000345988.2	-	21	2617	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V	PPL_ENST00000590782.2_Missense_Mutation_p.A841V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	843					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A843V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAACTTGGCGGCAAGTGCTGC	0.483																																						uc002cyd.1																			1	Substitution - Missense(1)	p.A843V(2)	prostate(1)	breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2527-2529)gCc>gTc		Homo sapiens periplakin (PPL), mRNA.							137	136	136					16																	4937215		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4937215G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2528C>T	16.37:g.4937215G>A	ENSP00000340510:p.Ala843Val						p.A843V	NM_002705	NP_002696	O60437	PEPL_HUMAN			20	2618	-			843					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2528C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468408	0.43839	.	.	ENSG00000118898	ENST00000345988	T	0.49432	0.78	5.53	4.57	0.56435	.	0.277276	0.34777	N	0.003682	T	0.45115	0.1326	L	0.60455	1.87	0.34326	D	0.687103	B	0.13594	0.008	B	0.09377	0.004	T	0.54248	-0.8322	10	0.36615	T	0.2	.	14.4864	0.67619	0.0708:0.0:0.9292:0.0	.	843	O60437	PEPL_HUMAN	V	843	ENSP00000340510:A843V	ENSP00000340510:A843V	A	-	2	0	PPL	4877216	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	3.409000	0.52657	1.346000	0.45694	0.655000	0.94253	GCC		0.483	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4937215	G	A	4937215	3	1	59	1	0	0	0	0	1	0	0	0	12334	1203	42	3	2750	3	PPL	16	4937215	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		4937215	85417538	86	3862											
GLG1	2734	broad.mit.edu	37	chr16	74542799	74542799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatttgggatctgtagttaGgttcagcttataattccaca	12	15	8	6	0	2	0	1	0	1	0	3	1	3	1	1	2	1	4	1	2	5	7			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:74542799G>C	ENST00000422840.2	-	3	495	c.496C>G	c.(496-498)Cta>Gta	p.L166V	GLG1_ENST00000447066.2_Missense_Mutation_p.L155V|GLG1_ENST00000205061.5_Missense_Mutation_p.L166V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	166					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTGTAGTTAGGTTCAGCTTA	0.328																																						uc002fcx.3																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(496-498)Cta>Gta		Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.							89	92	91					16																	74542799		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74542799G>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.496C>G	16.37:g.74542799G>C	ENSP00000405984:p.Leu166Val					GLG1_uc002fcw.4_Missense_Mutation_p.L155V|GLG1_uc002fcy.4_Missense_Mutation_p.L166V|GLG1_uc002fcz.4_5'UTR	p.L166V	NM_012201	NP_036333	Q92896	GSLG1_HUMAN			2	546	-			166					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.496C>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304181	0.60305	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.64	4.69	0.59074	.	0.000000	0.64402	D	0.000005	T	0.69287	0.3094	L	0.51422	1.61	0.80722	D	1	P;D;D	0.69078	0.843;0.988;0.997	B;P;D	0.79108	0.336;0.79;0.992	T	0.67821	-0.5571	9	0.35671	T	0.21	-5.1797	14.3356	0.66586	0.071:0.0:0.929:0.0	.	166;166;155	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	V	166;155;166	.	ENSP00000205061:L166V	L	-	1	2	GLG1	73100300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.189000	0.72051	1.390000	0.46547	0.651000	0.88453	CTA		0.328	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		C	74542799	G	C	74542799	3	2	59	1	0	0	0	0	1	0	0	0	6436	991	35	5	3219	5	GLG1	16	74542799	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	69605584	74542799	15811954	87	3863											
CBFA2T3	863	broad.mit.edu	37	chr16	88945844	88945844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccgacatggcctgcCgcttcacctcattcacggcc	6	8	9	18	3	3	0	3	0	0	0	4	1	4	0	5	2	2	3	5	2	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:88945844C>T	ENST00000268679.4	-	11	1892	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R413Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R413Q|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R423Q|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R461Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	499	Mediates interaction with PRKAR2A.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CATGGCCTGCCGCTTCACCTC	0.647			T	RUNX1	AML																																	uc002fmm.2				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1495-1497)cGg>cAg		Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.							68	56	60					16																	88945844		2198	4299	6497	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945844C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1496G>A	16.37:g.88945844C>T	ENSP00000268679:p.Arg499Gln					CBFA2T3_uc002fml.2_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.2_5'UTR	p.R499Q	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	10	1785	-			499			Mediates interaction with PRKAR2A.		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1496G>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791630	0.90367	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.7	3.75	0.43078	.	0.000000	0.64402	D	0.000001	T	0.69611	0.3130	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.946;0.984	T	0.74565	-0.3623	10	0.72032	D	0.01	-9.3027	12.733	0.57208	0.0:0.9196:0.0:0.0804	.	499;413	O75081;O75081-2	MTG16_HUMAN;.	Q	413;499;461;423;413	ENSP00000332122:R413Q;ENSP00000268679:R499Q;ENSP00000395739:R461Q;ENSP00000401254:R423Q;ENSP00000353449:R413Q	ENSP00000268679:R499Q	R	-	2	0	CBFA2T3	87473345	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	7.536000	0.82023	0.966000	0.38159	0.462000	0.41574	CGG		0.647	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		T	88945844	C	T	88945844	3	4	59	1	0	0	0	0	1	0	0	0	2698	652	23	2	473	2	CBFA2T3	16	88945844	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	14403045	88945844	1408909	88	3864											
P2RX5	5026	broad.mit.edu	37	chr17	3582918	3582918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtgggcacacagatcCgttccccttctgactgctgc	6	10	11	14	1	1	2	0	1	1	1	3	3	3	2	3	1	3	4	3	1	0	2	rs373920522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:3582918C>T	ENST00000225328.5	-	11	1623	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	P2RX5_ENST00000551178.1_Missense_Mutation_p.G384R|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.G409R|P2RX5_ENST00000547178.1_Missense_Mutation_p.G408R|P2RX5_ENST00000345901.3_Missense_Mutation_p.G385R|P2RX5_ENST00000552276.1_Missense_Mutation_p.G408R|P2RX5_ENST00000435558.1_Missense_Mutation_p.G409R|P2RX5_ENST00000552050.1_Missense_Mutation_p.G349R	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	409					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CACACAGATCCGTTCCCCTTC	0.672																																						uc002fwi.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1225-1227)Gga>Aga		Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	84	60	68		1150,1225,1153,1222	-1.2	0.3	17		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	P2RX5	NM_175080.2,NM_002561.3,NM_001204520.1,NM_001204519.1	125,125,125,125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	384/398,409/423,385/399,408/422	3582918	2,13004	2203	4300	6503	SO:0001583	missense	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3582918C>T	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.1225G>A	17.37:g.3582918C>T	ENSP00000225328:p.Gly409Arg					P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.G349R|P2RX5_uc002fwk.3_Missense_Mutation_p.G408R|P2RX5_uc002fwj.3_Missense_Mutation_p.G384R|P2RX5_uc002fwl.3_Missense_Mutation_p.G385R	p.G409R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			10	1624	-			409					G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.1225G>A	CCDS11034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.83|15.83	2.948185|2.948185	0.53186|0.53186	0.0|0.0	2.33E-4|2.33E-4	ENSG00000083454|ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050|ENST00000552723	T;T;T;T;T;T|.	0.12774|.	2.94;2.98;2.94;2.93;2.98;2.65|.	3.53|3.53	-1.23|-1.23	0.09465|0.09465	.|.	23.602600|.	0.00508|.	U|.	0.000174|.	T|T	0.15003|0.15003	0.0362|0.0362	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.28082|.	0.127;0.2;0.2;0.2;0.127;0.2|.	B;B;B;B;B;B|.	0.19391|.	0.008;0.025;0.025;0.025;0.011;0.025|.	T|T	0.29088|0.29088	-1.0023|-1.0023	10|5	0.72032|.	D|.	0.01|.	-8.6578|-8.6578	4.9422|4.9422	0.13971|0.13971	0.0:0.5275:0.1595:0.313|0.0:0.5275:0.1595:0.313	.|.	349;385;408;384;409;409|.	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4|.	.;.;.;.;P2RX5_HUMAN;.|.	R|Q	409;384;408;409;385;349|282	ENSP00000415370:G409R;ENSP00000447545:G384R;ENSP00000448355:G408R;ENSP00000225328:G409R;ENSP00000342161:G385R;ENSP00000450006:G349R|.	ENSP00000225328:G409R|.	G|R	-|-	1|2	0|0	P2RX5|P2RX5	3529667|3529667	0.000000|0.000000	0.05858|0.05858	0.276000|0.276000	0.24689|0.24689	0.009000|0.009000	0.06853|0.06853	-0.263000|-0.263000	0.08670|0.08670	0.035000|0.035000	0.15519|0.15519	-0.432000|-0.432000	0.05891|0.05891	GGA|CGG		0.672	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		T	3582918	C	T	3582918	3	4	59	1	0	0	0	0	1	0	0	0	11343	661	23	2	51	2	P2RX5	17	3582918	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		3582918	77612292	89	3865											
RABEP1	9135	broad.mit.edu	37	chr17	5238607	5238607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggctgtctgaaggtcaaGaggaggaaaatttagaaaat	17	8	13	3	0	2	3	1	1	1	2	2	6	2	5	0	4	0	1	0	4	8	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:5238607G>A	ENST00000546142.2	+	4	683	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.E166K|RABEP1_ENST00000537505.1_Missense_Mutation_p.E123K|RABEP1_ENST00000408982.2_Missense_Mutation_p.E166K|RABEP1_ENST00000341923.6_Missense_Mutation_p.E166K			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	166					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAAGGTCAAGAGGAGGAAAA	0.383																																						uc002gbm.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(496-498)Gag>Aag		Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.							62	59	60					17																	5238607		1836	4091	5927	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5238607G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.496G>A	17.37:g.5238607G>A	ENSP00000437701:p.Glu166Lys					RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.4_Missense_Mutation_p.E166K|RABEP1_uc002gbj.3_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	p.E166K	NM_004703	NP_004694	Q15276	RABE1_HUMAN			3	720	+			166					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.496G>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456058	0.84209	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.49720	0.77;0.78;0.77;0.78;0.82	6.03	5.03	0.67393	Rabaptin coiled-coil domain (1);	0.097040	0.64402	D	0.000001	T	0.44265	0.1285	L	0.47716	1.5	0.51233	D	0.999915	P;P;P;P;P;P	0.46859	0.86;0.885;0.885;0.885;0.86;0.86	B;P;P;P;B;B	0.45538	0.352;0.484;0.484;0.484;0.352;0.352	T	0.14504	-1.0470	10	0.13470	T	0.59	-17.1873	14.9204	0.70832	0.0:0.2661:0.7339:0.0	.	123;123;166;166;166;166	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	K	166;166;166;166;166;123	ENSP00000262477:E166K;ENSP00000386150:E166K;ENSP00000437701:E166K;ENSP00000339569:E166K;ENSP00000445408:E123K	ENSP00000262477:E166K	E	+	1	0	RABEP1	5179331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.476000	0.60216	2.854000	0.98071	0.655000	0.94253	GAG		0.383	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		A	5238607	G	A	5238607	3	1	59	1	0	0	0	0	1	0	0	0	12961	943	33	3	510	3	RABEP1	17	5238607	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	1655689	5238607	75956603	90	3866											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	59	1	0	0	0	0	1	0	0	0	16378	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	2339787	7578394	73616816	91	3867											
PEX12	5193	broad.mit.edu	37	chr17	33904306	33904306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaagaagggggatgaataGaatattcatcctcttctctc	12	11	11	7	0	3	3	1	1	2	2	6	5	4	5	1	3	0	0	1	3	6	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:33904306G>C	ENST00000225873.4	-	2	1038	c.431C>G	c.(430-432)tCt>tGt	p.S144C	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	144					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.S144C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGAATAGAATATTCATC	0.453																																						uc002hjp.3																			1	Substitution - Missense(1)	p.S144C(2)	lung(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(430-432)tCt>tGt		Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.							71	77	75					17																	33904306		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904306G>C	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.431C>G	17.37:g.33904306G>C	ENSP00000225873:p.Ser144Cys						p.S144C	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	1047	-			144					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.431C>G	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601682	0.87055	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.83506	-1.73	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91195	0.4987	10	0.66056	D	0.02	-16.9411	18.3052	0.90177	0.0:0.0:1.0:0.0	.	144	O00623	PEX12_HUMAN	C	144	ENSP00000225873:S144C	ENSP00000225873:S144C	S	-	2	0	PEX12	30928419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.991000	0.93514	2.568000	0.86640	0.650000	0.86243	TCT		0.453	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		C	33904306	G	C	33904306	3	2	59	1	0	0	0	0	1	0	0	0	11740	942	33	5	656	5	PEX12	17	33904306	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	26325912	33904306	47290904	92	3868											
KRT38	8687	broad.mit.edu	37	chr17	39593757	39593757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacagggggcagtcacGcaggagggagacgtggagca	11	2	20	8	2	1	1	1	0	0	1	1	5	1	4	0	6	2	4	0	6	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39593757G>A	ENST00000246646.3	-	7	1277	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	426	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCAGTCACGCAGGAGGGAG	0.617																																						uc002hwq.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1276-1278)tgC>tgT		Homo sapiens keratin 38 (KRT38), mRNA.							34	30	31					17																	39593757		2203	4299	6502	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39593757G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1278C>T	17.37:g.39593757G>A							p.C426C	NM_006771	NP_006762	O76015	KRT38_HUMAN			6	1701	-		Breast(137;0.000496)	426			Tail.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.1278C>T	CCDS11392.1																																																																																				0.617	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		A	39593757	G	A	39593757	2	1	59	1	0	0	0	0	0	0	0	1	8475	1079	38	1		1	KRT38	17	39593757	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	5689451	39593757	41601453	93	3869											
CCBE1	147372	broad.mit.edu	37	chr18	57106776	57106776	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccactcataaggcttaccTtagaaccatctcttcctggt	10	12	6	13	0	2	1	1	0	1	1	4	2	3	1	4	2	2	1	4	2	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:57106776T>G	ENST00000439986.4	-	9	987	c.950A>C	c.(949-951)aAg>aCg	p.K317T	CCBE1_ENST00000398179.2_Splice_Site_p.K46T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	317	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAGGCTTACCTTAGAACCATC	0.423																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.e9+1		Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.							179	181	181					18																	57106776		2203	4300	6503	SO:0001630	splice_region_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57106776T>G	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.951+1A>C	18.37:g.57106776T>G						CCBE1_uc010dpq.3_Splice_Site_p.K46_splice|CCBE1_uc002lia.3_Splice_Site_p.K170_splice	p.K317_splice	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			9	1021	-		Colorectal(73;0.175)	317			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.951_splice	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359951	0.61403	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	T;D	0.94280	-0.32;-3.39	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.70595	2.14	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.996	D	0.95924	0.8933	10	0.59425	D	0.04	-23.8675	12.9958	0.58646	0.0:0.0:0.0:1.0	.	46;317;126	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	T	317;46	ENSP00000404464:K317T;ENSP00000381241:K46T	ENSP00000381241:K46T	K	-	2	0	CCBE1	55257756	1.000000	0.71417	0.953000	0.39169	0.473000	0.32948	6.983000	0.76180	1.759000	0.51996	0.533000	0.62120	AAG		0.423	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	Missense_Mutation	G	57106776	T	G	57106776	5	3	59	1	0	0	0	0	0	0	1	0	2731	1623	56	5	282	5	CCBE1	18	57106776	Splice_Site	SNP	T	TCGA-06-0743-01A-01D-1492-08		57106776	20970472	94	3870											
ADNP2	22850	broad.mit.edu	37	chr18	77896514	77896514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcctagtaaaaaggaaaTagaactgttgtcctcactct	15	12	6	8	0	2	1	1	0	1	1	4	2	4	2	2	1	1	2	2	1	8	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896514T>C	ENST00000262198.4	+	4	3673	c.3218T>C	c.(3217-3219)aTa>aCa	p.I1073T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1073					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAAAGGAAATAGAACTGTTG	0.313																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3217-3219)aTa>aCa		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							53	58	56					18																	77896514		2198	4295	6493	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896514T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3218T>C	18.37:g.77896514T>C	ENSP00000262198:p.Ile1073Thr						p.I1073T	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	3673	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1073					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3218T>C	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.570041	0.28003	.	.	ENSG00000101544	ENST00000262198	D	0.92099	-2.97	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.327747	0.29572	N	0.011762	D	0.89005	0.6592	L	0.58101	1.795	0.41560	D	0.988621	P	0.35272	0.493	B	0.31101	0.124	D	0.87966	0.2733	9	.	.	.	-11.4353	14.423	0.67196	0.0:0.0:0.0:1.0	.	1073	Q6IQ32	ADNP2_HUMAN	T	1073	ENSP00000262198:I1073T	.	I	+	2	0	ADNP2	75997505	0.368000	0.25031	0.975000	0.42487	0.755000	0.42902	0.566000	0.23593	2.009000	0.58944	0.459000	0.35465	ATA		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		C	77896514	T	C	77896514	3	2	59	1	0	0	0	0	1	0	0	0	324	1406	49	4	3228	4	ADNP2	18	77896514	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	20789738	77896514	180734	95	3871			1	12		2	2	21	T		7.687859e-05
ADNP2	22850	broad.mit.edu	37	chr18	77896534	77896534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaactgttgtcctcactcTtttgggtgtggaaaattgat	9	16	10	6	0	2	2	1	1	1	1	3	3	3	3	1	2	1	1	1	2	4	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896534T>C	ENST00000262198.4	+	4	3693	c.3238T>C	c.(3238-3240)Ttt>Ctt	p.F1080L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1080					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTCCTCACTCTTTTGGGTGTG	0.328																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3238-3240)Ttt>Ctt		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							53	59	57					18																	77896534		2201	4295	6496	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896534T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3238T>C	18.37:g.77896534T>C	ENSP00000262198:p.Phe1080Leu						p.F1080L	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	3693	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1080					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3238T>C	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	0.292	-0.979442	0.02197	.	.	ENSG00000101544	ENST00000262198	D	0.89875	-2.58	4.75	-0.225	0.13111	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.117745	0.35936	N	0.002899	T	0.53899	0.1825	N	0.00088	-2.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61884	-0.6971	9	.	.	.	-7.674	8.8882	0.35416	0.0:0.518:0.0:0.482	.	1080	Q6IQ32	ADNP2_HUMAN	L	1080	ENSP00000262198:F1080L	.	F	+	1	0	ADNP2	75997525	0.005000	0.15991	0.523000	0.27875	0.892000	0.51952	0.142000	0.16096	0.051000	0.15978	0.459000	0.35465	TTT		0.328	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		C	77896534	T	C	77896534	3	2	59	1	0	0	0	0	1	0	0	0	324	1609	56	4	3248	4	ADNP2	18	77896534	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	20	77896534	180714	96	3872			1	12		2	2	21	T		7.687859e-05
GCDH	2639	broad.mit.edu	37	chr19	13008135	13008135	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcagtttggtgtcccActggccaggaaccagctgat	9	9	13	10	0	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:13008135A>T	ENST00000222214.5	+	10	1186	c.975A>T	c.(973-975)ccA>ccT	p.P325P	GCDH_ENST00000591470.1_Silent_p.P325P|GCDH_ENST00000422947.2_Silent_p.P281P|GCDH_ENST00000457854.1_Silent_p.P325P			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	325					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	TTGGTGTCCCACTGGCCAGGA	0.627																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(973-975)ccA>ccT		Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							50	39	43					19																	13008135		2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008135A>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.975A>T	19.37:g.13008135A>T						GCDH_uc010xms.2_Silent_p.P292P|GCDH_uc002mvp.3_Silent_p.P325P|GCDH_uc010xmt.2_Silent_p.P159P|GCDH_uc010xmu.2_Silent_p.P281P	p.P325P	NM_000159	NP_000150	Q92947	GCDH_HUMAN			9	1052	+			325					A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.975A>T	CCDS12286.1																																																																																				0.627	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			T	13008135	A	T	13008135	2	4	59	1	0	0	0	0	0	0	0	1	6287	146	6	5		5	GCDH	19	13008135	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08		13008135	46120848	97	3873											
OR10H1	26539	broad.mit.edu	37	chr19	15917903	15917903	+	Frame_Shift_Del	DEL	A	A	-																															aatttctcctacatcattacAtttttttctgggtagagttt																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:15917903delA	ENST00000334920.2	-	1	1033	c.945delT	c.(943-945)aatfs	p.N315fs		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438																																						uc002nbq.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(943-945)aatfs		Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.							87	85	86					19																	15917903		2203	4300	6503	SO:0001589	frameshift_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15917903delA	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.945delT	19.37:g.15917903delA	ENSP00000335596:p.Asn315fs						p.N315fs	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			0	1034	-			315					Q6IFQ2|Q96R59	Frame_Shift_Del	DEL	ENST00000334920.2	37	c.945delT	CCDS12335.1																																																																																				0.438	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			-	15917903	A	-	15917903	7	5	59	1	0	1	0	1	0	0	0	0	10905	214	8	0	15	0	OR10H1	19	15917903	Frame_Shift_Del	DEL	A	TCGA-06-0743-01A-01D-1492-08	2909768	15917903	43211080	98	3874											
PDE4C	5143	broad.mit.edu	37	chr19	18327614	18327614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggttctggaagatatcGcagttctctgcctgcagcag	8	11	12	10	1	2	2	0	1	2	1	4	3	2	3	1	2	3	5	1	2	2	3	rs564646126	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:18327614G>A	ENST00000355502.3	-	16	2293	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	PDE4C_ENST00000594465.3_Silent_p.C474C|PDE4C_ENST00000539010.1_Silent_p.C243C|PDE4C_ENST00000262805.12_Silent_p.C442C|PDE4C_ENST00000597297.1_Silent_p.C244C|PDE4C_ENST00000447275.3_Silent_p.C368C|PDE4C_ENST00000594617.3_Silent_p.C474C|PDE4C_ENST00000598111.2_Silent_p.C189C|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	474					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGAAGATATCGCAGTTCTCTG	0.602													-|||	2	0.000399361	0	0	5008	,	,		15260	0		0	False		,,,				2504	0.002					uc010xqc.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1420-1422)tgC>tgT		Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	Dyphylline(DB00651)						104	94	97					19																	18327614		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18327614G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1422C>T	19.37:g.18327614G>A						PDE4C_uc002nik.4_Silent_p.C474C|PDE4C_uc002nil.4_Silent_p.C474C|PDE4C_uc002nig.4_Silent_p.C189C|PDE4C_uc002nih.4_Silent_p.C244C|PDE4C_uc010ebk.3_Silent_p.C368C|PDE4C_uc002nii.4_Silent_p.C442C|PDE4C_uc002nif.4_Silent_p.C243C|PDE4C_uc010ebl.3_Silent_p.C188C	p.C474C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			11	1902	-			474					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.1422C>T	CCDS12373.1																																																																																				0.602	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18327614	G	A	18327614	2	1	59	1	0	0	0	0	0	0	0	1	11641	1079	38	1		1	PDE4C	19	18327614	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	2409711	18327614	40801369	99	3875											
CILP2	148113	broad.mit.edu	37	chr19	19653191	19653191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catatccccccagggtgcagCcttgacacctgtgaatgccc	8	8	9	16	0	0	2	0	2	0	0	1	2	1	2	6	1	3	1	6	1	2	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:19653191C>T	ENST00000291495.5	+	5	685	c.600C>T	c.(598-600)agC>agT	p.S200S	CILP2_ENST00000588333.2_3'UTR|CILP2_ENST00000586018.1_Silent_p.S206S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	200						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGGGTGCAGCCTTGACACCT	0.582																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(616-618)agC>agT		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							33	31	32					19																	19653191		2203	4300	6503	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19653191C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.600C>T	19.37:g.19653191C>T						CILP2_uc002nmv.4_Silent_p.S200S	p.S206S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			4	703	+			200					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.618C>T	CCDS12405.1																																																																																				0.582	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19653191	C	T	19653191	2	4	59	1	0	0	0	0	0	0	0	1	3430	738	26	3		3	CILP2	19	19653191	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	1325577	19653191	39475792	100	3876											
ZNF208	7757	broad.mit.edu	37	chr19	22154854	22154854	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctctccagtatgAattaccttatgtttagtaag	10	17	8	6	0	1	1	0	1	1	0	3	1	2	1	2	1	1	4	2	1	7	8			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:22154854A>T	ENST00000397126.4	-	4	3130	c.2982T>A	c.(2980-2982)atT>atA	p.I994I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	994					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.348																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2980-2982)atT>atA		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							57	62	60					19																	22154854		2086	4235	6321	SO:0001819	synonymous_variant	7757							g.chr19:22154854A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2982T>A	19.37:g.22154854A>T						ZNF208_uc002nqo.1_Intron	p.I994I	NM_007153	NP_009084					3	3131	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2982T>A	CCDS54240.1																																																																																				0.348	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22154854	A	T	22154854	2	4	59	1	0	0	0	0	0	0	0	1	17763	242	9	5		5	ZNF208	19	22154854	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	2501663	22154854	36974129	101	3877											
MLL4	9757	broad.mit.edu	37	chr19	36222840	36222840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggaccccccactggaCacagatgttcttgtccctgg	7	9	12	13	0	1	2	0	1	1	1	2	4	2	4	4	4	0	1	4	4	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:36222840C>T	ENST00000222270.7	+	27	5469	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.D1823D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1823					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCACTGGACACAGATGTTC	0.627																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(5467-5469)gaC>gaT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							37	42	40					19																	36222840		1988	4141	6129	SO:0001819	synonymous_variant	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36222840C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5469C>T	19.37:g.36222840C>T		HNSCC(34;0.089)				MLL2_uc021usu.1_Silent_p.D637D	p.D1823D	NM_014727	NP_055542	O14686	MLL2_HUMAN			26	5469	+			440					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.5469C>T	CCDS46055.1																																																																																				0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36222840	C	T	36222840	2	4	59	1	0	0	0	0	0	0	0	1	9623	477	17	3		3	MLL4	19	36222840	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	14067986	36222840	22906143	102	3878											
MEGF8	1954	broad.mit.edu	37	chr19	42873137	42873137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagtgcagctgcaagacCggctataccatggacaagtg	12	8	12	9	1	0	2	0	1	0	1	0	3	0	3	2	2	4	4	2	2	5	3	rs368865740		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:42873137C>T	ENST00000251268.6	+	37	6624	c.6624C>T	c.(6622-6624)acC>acT	p.T2208T	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.T2141T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2208	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAAGACCGGCTATACCA	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		17901	0		0	False		,,,				2504	0					uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6421-6423)acC>acT		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.		C		0,4406		0,0,2203	62	63	63		6423	-9.5	0.1	19		63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MEGF8	NM_001410.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		2141/2779	42873137	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42873137C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6624C>T	19.37:g.42873137C>T						MEGF8_uc002otm.4_Silent_p.T1749T|MEGF8_uc002otn.4_5'Flank	p.T2141T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			35	7058	+		Prostate(69;0.00682)	2208			PSI 7.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6423C>T																																																																																					0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		T	42873137	C	T	42873137	2	4	59	1	0	0	0	0	0	0	0	1	9463	639	23	2		2	MEGF8	19	42873137	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	6650297	42873137	16255846	103	3879											
ZNF813	126017	broad.mit.edu	37	chr19	53994332	53994332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggcaagactttcagtcaGacgtattcccttacatgcca	10	12	8	11	1	2	2	2	0	0	2	3	2	3	2	2	1	2	2	2	1	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:53994332G>A	ENST00000396403.4	+	4	974	c.846G>A	c.(844-846)caG>caA	p.Q282Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTTCAGTCAGACGTATTCCC	0.418																																						uc021uzf.1																			0				large_intestine(1)	1						c.(25-27)aGa>aAa		Homo sapiens zinc finger protein 813 (ZNF813), mRNA.							84	85	85					19																	53994332		2202	4300	6502	SO:0001819	synonymous_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994332G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.846G>A	19.37:g.53994332G>A						ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Silent_p.Q282Q	p.R9K	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	0	122	+			0			KRAB.			Silent	SNP	ENST00000396403.4	37	c.26G>A	CCDS46172.1																																																																																				0.418	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53994332	G	A	53994332	2	1	59	1	0	0	0	0	0	0	0	1	18172	933	33	3		3	ZNF813	19	53994332	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	11121195	53994332	5134651	104	3880											
SRXN1	140809	broad.mit.edu	37	chr20	629466	629466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgctggtaggccgcGtagcggtggcagcccccaaa	7	7	15	12	3	0	0	0	0	0	0	0	0	0	0	3	4	4	6	3	4	3	3	rs140166119		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:629466G>A	ENST00000381962.3	-	2	490	c.306C>T	c.(304-306)taC>taT	p.Y102Y	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	102					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GGTAGGCCGCGTAGCGGTGGC	0.617																																						uc002wea.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(304-306)taC>taT		Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.		G		0,4406		0,0,2203	77	77	77		306	-4.4	0.6	20	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRXN1	NM_080725.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		102/138	629466	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629466G>A	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 139", "sulfiredoxin 1 homolog (S. cerevisiae)"	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.306C>T	20.37:g.629466G>A						SRXN1_uc002web.3_Non-coding_Transcript	p.Y102Y	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN			1	367	-			102					B2R543|Q8NDM3|Q96AK6	Silent	SNP	ENST00000381962.3	37	c.306C>T	CCDS13005.1																																																																																				0.617	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		A	629466	G	A	629466	2	1	59	1	0	0	0	0	0	0	0	1	15172	1140	40	1		1	SRXN1	20	629466	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		629466	62396054	105	3881											
PROKR2	128674	broad.mit.edu	37	chr20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccccgctgggagggaCgccagtgcagcagcatcatc	7	6	13	15	2	1	0	1	0	0	0	3	2	2	2	3	2	4	5	3	2	0	0	rs576243101		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:5282783C>T	ENST00000217270.3	-	2	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R353H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			C|||	1	0.000199681	8e-04	0	5008	,	,		24072	0		0	False		,,,				2504	0					uc010zqw.2																			1	Substitution - Missense(1)	p.R353H(2)	ovary(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(1057-1059)cGt>cAt		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.							206	166	179					20																	5282783		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282783C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1058G>A	20.37:g.5282783C>T	ENSP00000217270:p.Arg353His	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.R353H|PROKR2_uc010zqy.2_Missense_Mutation_p.R353H	p.R353H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	1066	-			353					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.1058G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999680	0.54147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	4.1	0.47936	.	0.060269	0.64402	D	0.000009	T	0.34048	0.0884	M	0.62723	1.935	0.49213	D	0.999764	P	0.49447	0.924	B	0.40038	0.317	T	0.23084	-1.0198	10	0.44086	T	0.13	.	11.623	0.51130	0.0:0.9101:0.0:0.0899	.	353	Q8NFJ6	PKR2_HUMAN	H	353	ENSP00000440790:R353H;ENSP00000217270:R353H	ENSP00000217270:R353H	R	-	2	0	PROKR2	5230783	0.141000	0.22595	0.989000	0.46669	0.516000	0.34256	0.683000	0.25349	2.370000	0.80446	0.655000	0.94253	CGT		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5282783	C	T	5282783	3	4	59	1	0	0	0	0	1	0	0	0	12553	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	4653317	5282783	57742737	106	3882											
SEL1L2	80343	broad.mit.edu	37	chr20	13899669	13899669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggataaagacttactcTtctttttgtttttggctttt	7	21	6	7	0	2	1	0	0	2	1	2	2	2	2	0	2	1	2	0	2	3	9			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:13899669T>A	ENST00000284951.5	-	4	458	c.384A>T	c.(382-384)gaA>gaT	p.E128D	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E128D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	128						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGACTTACTCTTCTTTTTGTT	0.343																																						uc010gcf.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(382-384)gaA>gaT		Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.							171	153	159					20																	13899669		1821	4088	5909	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13899669T>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.384A>T	20.37:g.13899669T>A	ENSP00000284951:p.Glu128Asp					SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Missense_Mutation_p.E128D|SEL1L2_uc002wor.3_Non-coding_Transcript	p.E128D	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			3	466	-			128					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.384A>T		.	.	.	.	.	.	.	.	.	.	T	11.99	1.802261	0.31869	.	.	ENSG00000101251	ENST00000378072;ENST00000284951;ENST00000473203	T;T;T	0.55760	0.68;0.68;0.5	5.4	4.27	0.50696	Tetratricopeptide-like helical (1);	0.977314	0.08378	N	0.954956	T	0.31009	0.0783	N	0.08118	0	0.31775	N	0.631593	B;B	0.31193	0.312;0.081	B;B	0.27887	0.072;0.084	T	0.31888	-0.9927	10	0.20519	T	0.43	-7.1682	8.7212	0.34441	0.1689:0.0:0.0:0.831	.	128;128	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	128;128;16	ENSP00000367312:E128D;ENSP00000284951:E128D;ENSP00000420372:E16D	ENSP00000284951:E128D	E	-	3	2	SEL1L2	13847669	0.544000	0.26441	1.000000	0.80357	0.804000	0.45430	0.147000	0.16202	0.945000	0.37605	0.377000	0.23210	GAA		0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13899669	T	A	13899669	3	1	59	1	0	0	0	0	1	0	0	0	14011	1606	56	5	1750	5	SEL1L2	20	13899669	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	8616886	13899669	49125851	107	3883											
SPAG4	6676	broad.mit.edu	37	chr20	34206899	34206899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggattttgtgcggaagcccGactatgctttgagctctgtg	7	13	13	8	2	1	1	0	1	1	0	1	4	1	3	1	2	4	2	1	2	2	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:34206899G>A	ENST00000374273.3	+	8	884	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	258					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCGGAAGCCCGACTATGCTTT	0.592																																						uc002xdb.1																			0				NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21						c.(772-774)Gac>Aac		Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.							118	110	113					20																	34206899		2203	4300	6503	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34206899G>A	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.772G>A	20.37:g.34206899G>A	ENSP00000363391:p.Asp258Asn					SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	p.D258N	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		7	889	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		258					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.772G>A	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153049	0.78001	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.58060	0.96;0.36	4.78	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.74881	2.28	0.44603	D	0.997577	D;D	0.89917	1.0;0.991	D;P	0.77557	0.99;0.617	T	0.70726	-0.4793	10	0.87932	D	0	-24.7079	8.828	0.35067	0.102:0.0:0.898:0.0	.	133;258	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	N	258;133	ENSP00000363391:D258N;ENSP00000396670:D133N	ENSP00000363391:D258N	D	+	1	0	SPAG4	33670313	0.999000	0.42202	0.973000	0.42090	0.806000	0.45545	4.550000	0.60733	1.379000	0.46325	0.462000	0.41574	GAC		0.592	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		A	34206899	G	A	34206899	3	1	59	1	0	0	0	0	1	0	0	0	14980	1058	37	2	802	2	SPAG4	20	34206899	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	20307230	34206899	28818621	108	3884											
PLCG1	5335	broad.mit.edu	37	chr20	39795447	39795447	+	Missense_Mutation	SNP	T	T	G																															acacccgctataccgcaagaTgaagctgcgctatcccatca																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795447T>G	ENST00000373271.1	+	19	2654	c.2249T>G	c.(2248-2250)aTg>aGg	p.M750R	PLCG1_ENST00000244007.3_Missense_Mutation_p.M750R|PLCG1_ENST00000373272.2_Missense_Mutation_p.M750R	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	750	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACCGCAAGATGAAGCTGCGC	0.572																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2248-2250)aTg>aGg		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							124	113	116					20																	39795447		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39795447T>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2249T>G	20.37:g.39795447T>G	ENSP00000362368:p.Met750Arg					PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.3_Missense_Mutation_p.M100R	p.M750R	NM_182811	NP_877963	P19174	PLCG1_HUMAN			18	2370	+		Myeloproliferative disorder(115;0.00878)	750			SH2 2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2249T>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212308	0.79240	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65732	-0.17;-0.17;-0.17	5.9	5.9	0.94986	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.72625	0.969;0.978;0.932;0.932	T	0.80056	-0.1542	10	0.87932	D	0	.	16.307	0.82852	0.0:0.0:0.0:1.0	.	750;326;750;750	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	R	750	ENSP00000244007:M750R;ENSP00000362368:M750R;ENSP00000362369:M750R	ENSP00000244007:M750R	M	+	2	0	PLCG1	39228861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.249000	0.74217	0.528000	0.53228	ATG		0.572	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		G	39795447	T	G	39795447	3	3	59	1	0	0	0	0	1	0	0	0	12035	1464	51	5	2323	5	PLCG1	20	39795447	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	5588548	39795447	23230073	109	3885	4	2									
PLCG1	5335	broad.mit.edu	37	chr20	39795453	39795453	+	Missense_Mutation	SNP	T	T	A																															gctataccgcaagatgaagcTgcgctatcccatcaacgagg																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795453T>A	ENST00000373271.1	+	19	2660	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.L752Q|PLCG1_ENST00000373272.2_Missense_Mutation_p.L752Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	752	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGATGAAGCTGCGCTATCCC	0.567																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2254-2256)cTg>cAg		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							123	112	115					20																	39795453		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39795453T>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2255T>A	20.37:g.39795453T>A	ENSP00000362368:p.Leu752Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.3_Missense_Mutation_p.L102Q	p.L752Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			18	2376	+		Myeloproliferative disorder(115;0.00878)	752			SH2 2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2255T>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959091	0.92726	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.98747	-5.11;-5.11;-5.11	5.9	5.9	0.94986	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.99042	4.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97739	1.0207	10	0.87932	D	0	.	16.307	0.82852	0.0:0.0:0.0:1.0	.	752;328;752;752	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	Q	752	ENSP00000244007:L752Q;ENSP00000362368:L752Q;ENSP00000362369:L752Q	ENSP00000244007:L752Q	L	+	2	0	PLCG1	39228867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.249000	0.74217	0.528000	0.53228	CTG		0.567	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39795453	T	A	39795453	3	1	59	1	0	0	0	0	1	0	0	0	12035	1580	55	5	2329	5	PLCG1	20	39795453	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	6	39795453	23230067	110	3886	4	2									
ERG	2078	broad.mit.edu	37	chr21	39795357	39795357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgataactctgcgctcGttcgtggtcatgtttggggg	5	12	15	9	4	2	0	1	0	1	0	4	1	2	0	0	4	2	4	0	4	1	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:39795357G>A	ENST00000417133.2	-	5	569	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ERG_ENST00000453032.2_Silent_p.N29N|ERG_ENST00000398897.1_Silent_p.N29N|ERG_ENST00000429727.2_Silent_p.N121N|ERG_ENST00000398907.1_Silent_p.N121N|ERG_ENST00000398911.1_Silent_p.N128N|ERG_ENST00000398919.2_Silent_p.N128N|ERG_ENST00000288319.7_Silent_p.N121N|ERG_ENST00000398910.1_Silent_p.N128N|ERG_ENST00000398905.1_Silent_p.N121N|ERG_ENST00000442448.1_Silent_p.N128N	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	146	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTCTGCGCTCGTTCGTGGTCA	0.602			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.3				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(382-384)aaC>aaT		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.							239	155	183					21																	39795357		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795357G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.384C>T	21.37:g.39795357G>A						ERG_uc021wjd.1_Silent_p.N128N|ERG_uc002yxa.3_Silent_p.N121N|ERG_uc011aek.2_Silent_p.N29N|ERG_uc010gnv.3_Silent_p.N29N|ERG_uc010gnx.3_Silent_p.N128N|ERG_uc011ael.2_Silent_p.N128N|ERG_uc002yxb.3_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.4_Silent_p.N128N	p.N128N	NM_001243428	NP_001230357	P11308	ERG_HUMAN			4	679	-		Prostate(19;3.6e-06)	128			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.384C>T	CCDS46648.1																																																																																				0.602	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39795357	G	A	39795357	2	1	59	1	0	0	0	0	0	0	0	1	5222	1136	40	1		1	ERG	21	39795357	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		39795357	8334538	111	3887											
UBASH3A	53347	broad.mit.edu	37	chr21	43867265	43867265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgacccacggggcgaaCgcagcatttaactggaggaa	12	5	12	12	3	0	1	0	1	0	0	0	4	0	3	2	4	3	2	2	4	3	2	rs529202353		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:43867265C>T	ENST00000319294.6	+	15	1978	c.1947C>T	c.(1945-1947)aaC>aaT	p.N649N	UBASH3A_ENST00000291535.6_Silent_p.N611N|UBASH3A_ENST00000398367.1_3'UTR	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	649	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGGCGAACGCAGCATTTA	0.527													C|||	1	0.000199681	0	0	5008	,	,		18754	0		0	False		,,,				2504	0.001					uc002zbe.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1945-1947)aaC>aaT		Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.							135	139	138					21																	43867265		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43867265C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1947C>T	21.37:g.43867265C>T						UBASH3A_uc002zbf.3_Silent_p.N611N|UBASH3A_uc010gpe.3_3'UTR|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	p.N649N	NM_018961	NP_061834	P57075	UBS3A_HUMAN			14	2031	+			649			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1947C>T	CCDS13687.1																																																																																				0.527	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		T	43867265	C	T	43867265	2	4	59	1	0	0	0	0	0	0	0	1	16836	535	19	1		1	UBASH3A	21	43867265	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	4071908	43867265	4262630	112	3888											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951882	30951882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcgaagtcattgcggccGttagggaaggcgaacttgag	10	9	15	7	4	1	1	1	1	0	0	2	4	1	2	1	3	2	1	1	3	5	4	rs112070427	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:30951882G>A	ENST00000402321.1	-	3	647	c.330C>T	c.(328-330)aaC>aaT	p.N110N	GAL3ST1_ENST00000338911.5_Silent_p.N110N|GAL3ST1_ENST00000401975.1_Silent_p.N110N|GAL3ST1_ENST00000402369.1_Silent_p.N110N|GAL3ST1_ENST00000406955.1_Silent_p.N110N|GAL3ST1_ENST00000443111.2_Silent_p.N110N|GAL3ST1_ENST00000406361.1_Silent_p.N110N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	110					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATTGCGGCCGTTAGGGAAGG	0.597													G|||	52	0.0103834	0.0378	0.0029	5008	,	,		16524	0		0	False		,,,				2504	0					uc003aig.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(328-330)aaC>aaT		Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.		G		159,4247	106.5+/-144.9	3,153,2047	97	82	87		330	-0.1	1	22	dbSNP_132	87	0,8600		0,0,4300	no	coding-synonymous	GAL3ST1	NM_004861.1		3,153,6347	AA,AG,GG		0.0,3.6087,1.2225		110/424	30951882	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951882G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.330C>T	22.37:g.30951882G>A						GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N	p.N110N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			3	470	-			110					Q96C63	Silent	SNP	ENST00000402321.1	37	c.330C>T	CCDS13879.1																																																																																				0.597	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		A	30951882	G	A	30951882	2	1	59	1	0	0	0	0	0	0	0	1	6197	1136	40	1		1	GAL3ST1	22	30951882	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		30951882	20352684	113	3889											
P2RY8	286530	broad.mit.edu	37	chrX	1584686	1584686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgtgcgccaggagcaCgaagttgttgggggcgaagc	9	6	17	9	4	0	0	0	0	0	0	0	4	0	1	1	3	3	3	1	3	2	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:1584686C>T	ENST00000381297.4	-	2	976	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCAGGAGCACGAAGTTGTTG	0.647			T	CRLF2	"B-ALL, Downs associated ALL"																																	uc022brv.1				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(766-768)Gtg>Atg		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							72	68	69					X																	1584686		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584686C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.766G>A	X.37:g.1584686C>T	ENSP00000370697:p.Val256Met					CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.V256M	p.V256M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	766	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	256						Missense_Mutation	SNP	ENST00000381297.4	37	c.766G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	10.86	1.469284	0.26423	.	.	ENSG00000182162	ENST00000381297	T	0.73469	-0.75	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.235347	0.27618	U	0.018564	T	0.65943	0.2740	N	0.16567	0.415	0.09310	N	1	D	0.71674	0.998	P	0.57371	0.819	T	0.54616	-0.8267	10	0.33141	T	0.24	.	5.977	0.19385	0.0:0.7111:0.0:0.2889	.	256	Q86VZ1	P2RY8_HUMAN	M	256	ENSP00000370697:V256M	ENSP00000370697:V256M	V	-	1	0	P2RY8	1544686	0.999000	0.42202	0.984000	0.44739	0.686000	0.39977	0.937000	0.28951	1.007000	0.39238	0.279000	0.19357	GTG		0.647	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		T	1584686	C	T	1584686	3	4	59	1	0	0	0	0	1	0	0	0	11355	536	19	1	317	1	P2RY8	23	1584686	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		1584686	153685874	114	3890											
FOXR2	139628	broad.mit.edu	37	chrX	55650462	55650462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaggatctgacaaaCatttctcctttccctcagcc	12	10	7	12	0	3	2	1	1	2	1	5	4	4	4	3	2	2	0	3	2	3	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:55650462C>T	ENST00000339140.3	+	1	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(316-318)aaC>aaT		Homo sapiens forkhead box R2 (FOXR2), mRNA.							67	61	63					X																	55650462		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650462C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.318C>T	X.37:g.55650462C>T							p.N106N	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	630	+			106						Silent	SNP	ENST00000339140.3	37	c.318C>T	CCDS35308.1																																																																																				0.542	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		T	55650462	C	T	55650462	2	4	59	1	0	0	0	0	0	0	0	1	6032	477	17	3		3	FOXR2	23	55650462	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	54065776	55650462	99620098	115	3891											
MUM1L1	139221	broad.mit.edu	37	chrX	105450617	105450617	+	Frame_Shift_Del	DEL	T	T	-																															aaacaggaatgatagtctggTttaaatatcagaaatatcca																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:105450617delT	ENST00000357175.2	+	4	1841	c.1192delT	c.(1192-1194)tttfs	p.F398fs	MUM1L1_ENST00000337685.2_Frame_Shift_Del_p.F398fs|MUM1L1_ENST00000372552.1_Frame_Shift_Del_p.F398fs	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	398	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTCTGGTTTAAATATCA	0.358																																						uc022cca.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1192-1194)tttfs		Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.							41	35	37					X																	105450617		1844	4078	5922	SO:0001589	frameshift_variant	139221							g.chrX:105450617delT	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1192delT	X.37:g.105450617delT	ENSP00000349699:p.Phe398fs					MUM1L1_uc004emg.2_Frame_Shift_Del_p.F398fs|MUM1L1_uc004emf.2_Frame_Shift_Del_p.F398fs	p.F398fs	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN			0	1192	+			398			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Frame_Shift_Del	DEL	ENST00000357175.2	37	c.1192delT	CCDS55469.1																																																																																				0.358	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		-	105450617	T	-	105450617	7	5	59	1	0	1	0	1	0	0	0	0	9986	1725	60	0	1194	0	MUM1L1	23	105450617	Frame_Shift_Del	DEL	T	TCGA-06-0743-01A-01D-1492-08	49800155	105450617	49819943	116	3892											
AGTR2	186	broad.mit.edu	37	chrX	115304521	115304521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggttccaacagaagctcCgcagtgtgtttagggttcca	9	10	11	11	2	0	1	0	0	0	1	3	1	3	1	4	2	2	5	4	2	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:115304521C>T	ENST00000371906.4	+	3	1178	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	330					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	ACAGAAGCTCCGCAGTGTGTT	0.463																																						uc022cdd.1																			0		p.R330L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(988-990)Cgc>Tgc		Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.							146	135	139					X																	115304521		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304521C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.988C>T	X.37:g.115304521C>T	ENSP00000360973:p.Arg330Cys					AGTR2_uc004eqh.4_Missense_Mutation_p.R330C	p.R330C	NM_000686	NP_000677	P50052	AGTR2_HUMAN			0	988	+			330					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.988C>T	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449517	0.43531	.	.	ENSG00000180772	ENST00000371906	T	0.40476	1.03	4.63	4.63	0.57726	.	0.362283	0.27076	N	0.021053	T	0.38108	0.1028	N	0.14661	0.345	0.49130	D	0.999754	D	0.71674	0.998	P	0.58391	0.838	T	0.15809	-1.0424	10	0.37606	T	0.19	-5.5253	9.1105	0.36725	0.2175:0.7825:0.0:0.0	.	330	P50052	AGTR2_HUMAN	C	330	ENSP00000360973:R330C	ENSP00000360973:R330C	R	+	1	0	AGTR2	115218549	0.975000	0.34042	1.000000	0.80357	0.996000	0.88848	2.741000	0.47426	2.129000	0.65627	0.506000	0.49869	CGC		0.463	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		T	115304521	C	T	115304521	3	4	59	1	0	0	0	0	1	0	0	0	402	652	23	2	990	2	AGTR2	23	115304521	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	9853904	115304521	39966039	117	3893											
MAGEC3	139081	broad.mit.edu	37	chrX	140966989	140966989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccctatcagggtccccagGtttacaactttctgacttgc	8	12	8	13	0	2	1	1	1	1	0	3	2	3	1	3	2	3	1	3	2	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:140966989G>C	ENST00000298296.1	+	3	287	c.287G>C	c.(286-288)gGt>gCt	p.G96A	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000448920.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	96										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTCCCCAGGTTTACAACTT	0.582																																						uc011mwp.2																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(286-288)gGt>gCt		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.							19	18	19					X																	140966989		2203	4296	6499	SO:0001583	missense	139081							g.chrX:140966989G>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.287G>C	X.37:g.140966989G>C	ENSP00000298296:p.Gly96Ala						p.G96A	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			2	287	+	Acute lymphoblastic leukemia(192;6.56e-05)		96					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.287G>C	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	A	3.233	-0.157109	0.06544	.	.	ENSG00000165509	ENST00000298296	T	0.07114	3.22	1.86	-0.958	0.10347	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42932	-0.9422	9	0.31617	T	0.26	.	2.2322	0.03999	0.3683:0.0:0.3738:0.258	.	96	Q8TD91	MAGC3_HUMAN	A	96	ENSP00000298296:G96A	ENSP00000298296:G96A	G	+	2	0	MAGEC3	140794655	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.369000	0.07533	-0.832000	0.04251	-0.602000	0.04101	GGT		0.582	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		C	140966989	G	C	140966989	3	2	59	1	0	0	0	0	1	0	0	0	9182	1261	44	5	297	5	MAGEC3	23	140966989	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	25662468	140966989	14303571	118	3894											
FLNA	2316	broad.mit.edu	37	chrX	153588445	153588445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggggaagttgggcaCgggctggccgccgtacttga	5	9	17	10	3	0	1	0	1	0	0	0	2	0	2	2	5	2	5	2	5	2	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:153588445C>T	ENST00000369850.3	-	22	3954	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_ENST00000360319.4_Missense_Mutation_p.V1240M|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.V1240M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1240M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1240					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627																																						uc004fkk.2																			0				breast(6)	6						c.(3718-3720)Gtg>Atg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							31	36	34					X																	153588445		2034	4140	6174	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588445C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3718G>A	X.37:g.153588445C>T	ENSP00000358866:p.Val1240Met					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3967	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1240					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3718G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366645	0.61513	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.42	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.97732	0.9256	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.969	D	0.98457	1.0594	10	0.87932	D	0	.	11.8792	0.52564	0.0:0.9135:0.0:0.0865	.	1240;1240	P21333-2;P21333	.;FLNA_HUMAN	M	1240;1213;1240;1240;1240	ENSP00000353467:V1240M;ENSP00000416926:V1240M;ENSP00000358866:V1240M;ENSP00000358863:V1240M	ENSP00000358863:V1240M	V	-	1	0	FLNA	153241639	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	4.872000	0.63050	2.046000	0.60703	0.529000	0.55759	GTG		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153588445	C	T	153588445	3	4	59	1	0	0	0	0	1	0	0	0	5933	536	19	1	4333	1	FLNA	23	153588445	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	12621456	153588445	1682115	119	3895											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605460	5605460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctgctctatgccacaGcccaccactgtcacaggcct	7	8	8	18	0	3	0	1	0	2	0	3	0	3	0	5	2	3	1	5	2	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrY:5605460G>T	ENST00000215473.6	+	6	3500	c.3500G>T	c.(3499-3501)aGc>aTc	p.S1167I				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1167					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATGCCACAGCCCACCACTG	0.552																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3499-3501)aGc>aTc		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605460G>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3500G>T	Y.37:g.5605460G>T	ENSP00000215473:p.Ser1167Ile					PCDH11Y_uc022ciy.1_5'Flank	p.S1167I	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			4	4234	+			1167					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3500G>T																																																																																					0.552	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		T	5605460	G	T	5605460	3	4	59	1	0	0	0	0	1	0	0	0	11509	971	34	5	3576	5	PCDH11Y	24	5605460	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		5605460	53768106	120	3896											
ARID4B	51742	broad.mit.edu	37	chr1	235345495	235345495	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttttgaagtctttcAtcagagttatttaaaagttt	10	19	7	5	0	3	2	2	1	1	1	3	2	3	2	0	0	1	4	0	0	4	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr1:235345495A>T	ENST00000264183.3	-	20	3236	c.2739T>A	c.(2737-2739)gaT>gaA	p.D913E	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.D827E|ARID4B_ENST00000366603.2_Missense_Mutation_p.D913E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	913					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAAGTCTTTCATCAGAGTTAT	0.373																																						uc021pks.1																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2737-2739)gaT>gaA		Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.							75	81	79					1																	235345495		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345495A>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2739T>A	1.37:g.235345495A>T	ENSP00000264183:p.Asp913Glu					ARID4B_uc001hwq.3_Missense_Mutation_p.D913E|ARID4B_uc001hwr.3_Missense_Mutation_p.D827E|ARID4B_uc001hws.4_Missense_Mutation_p.D827E|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.D594E	p.D913E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		19	3116	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	913					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2739T>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.942|9.942	1.217730|1.217730	0.22373|0.22373	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.20069|.	2.14;2.1;2.1|.	5.63|5.63	0.804|0.804	0.18697|0.18697	.|.	0.355993|.	0.35262|.	N|.	0.003339|.	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.08118|0.08118	0|0	0.37779|0.37779	D|D	0.926948|0.926948	D;D;D;B|.	0.67145|.	0.996;0.996;0.996;0.103|.	D;D;D;B|.	0.77557|.	0.99;0.987;0.99;0.031|.	T|T	0.07986|0.07986	-1.0744|-1.0744	10|5	0.09590|.	T|.	0.72|.	-20.397|-20.397	4.7537|4.7537	0.13073|0.13073	0.5876:0.0:0.2834:0.1291|0.5876:0.0:0.2834:0.1291	.|.	594;913;827;913|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	E|K	913;827;913;913|313	ENSP00000264184:D827E;ENSP00000355562:D913E;ENSP00000264183:D913E|.	ENSP00000264183:D913E|.	D|M	-|-	3|2	2|0	ARID4B|ARID4B	233412118|233412118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.011000|1.011000	0.29911|0.29911	0.097000|0.097000	0.17492|0.17492	-0.334000|-0.334000	0.08254|0.08254	GAT|ATG		0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235345495	A	T	235345495	3	4	60	1	0	0	0	0	1	0	0	0	920	214	8	5	1219	5	ARID4B	1	235345495	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08		235345495	13905126	1	3897											
ZNF638	27332	broad.mit.edu	37	chr2	71651040	71651040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagcagtcttaccagaGgaggcagtggaaggatctca	12	7	13	9	0	3	2	2	0	2	2	4	5	3	5	1	4	2	2	1	4	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:71651040G>A	ENST00000409544.1	+	22	5026	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.G406R|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1466R	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1466					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTACCAGAGGAGGCAGTGG	0.463																																						uc002shx.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(4396-4398)Gga>Aga		Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.							53	52	53					2																	71651040		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71651040G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4396G>A	2.37:g.71651040G>A	ENSP00000386433:p.Gly1466Arg					ZNF638_uc010yqw.1_Missense_Mutation_p.G1045R|ZNF638_uc002shz.3_Missense_Mutation_p.G1466R|ZNF638_uc002shy.3_Missense_Mutation_p.G1466R|ZNF638_uc002sia.3_Missense_Mutation_p.G1466R|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.G563R|ZNF638_uc002sid.3_Intron	p.G1466R	NM_014497	NP_055312	Q14966	ZN638_HUMAN			21	4719	+			1466					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4396G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922380	0.73213	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.47528	0.84;0.84;1.19	5.46	5.46	0.80206	.	0.131175	0.35013	N	0.003508	T	0.57858	0.2082	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.993;0.996;1.0	P;D;D	0.91635	0.859;0.933;0.999	T	0.48714	-0.9011	10	0.17832	T	0.49	-10.9036	16.7937	0.85596	0.0:0.0:1.0:0.0	.	1466;1466;1466	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	R	1466;1466;406;406	ENSP00000264447:G1466R;ENSP00000386433:G1466R;ENSP00000386813:G406R	ENSP00000264447:G1466R	G	+	1	0	ZNF638	71504548	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.678000	0.61641	2.550000	0.86006	0.563000	0.77884	GGA		0.463	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71651040	G	A	71651040	3	1	60	1	0	0	0	0	1	0	0	0	18052	1001	35	3	4478	3	ZNF638	2	71651040	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		71651040	171548333	2	3898											
C2orf78	388960	broad.mit.edu	37	chr2	74042973	74042973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgctacagtcagtaacagCgcttctgtgaacaaggccaa	13	8	10	10	1	2	1	1	1	1	0	2	1	2	1	1	1	5	3	1	1	5	3	rs373917345		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:74042973C>T	ENST00000409561.1	+	3	1744	c.1623C>T	c.(1621-1623)agC>agT	p.S541S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	541										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCAGTAACAGCGCTTCTGTGA	0.502																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1621-1623)agC>agT		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.		C		0,3958		0,0,1979	86	83	84		1623	1.1	0	2		84	1,8345		0,1,4172	no	coding-synonymous	C2orf78	NM_001080474.1		0,1,6151	TT,TC,CC		0.012,0.0,0.0081		541/923	74042973	1,12303	1979	4173	6152	SO:0001819	synonymous_variant	388960							g.chr2:74042973C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1623C>T	2.37:g.74042973C>T							p.S541S	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			2	1744	+			541						Silent	SNP	ENST00000409561.1	37	c.1623C>T	CCDS46338.1																																																																																				0.502	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		T	74042973	C	T	74042973	2	4	60	1	0	0	0	0	0	0	0	1	2195	767	27	1		1	C2orf78	2	74042973	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	2391933	74042973	169156400	3	3899											
C2orf89	129293	broad.mit.edu	37	chr2	85051153	85051153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcctccgcttcttccGgaacctctgttcggcctcac	4	11	8	18	4	3	1	1	1	2	0	6	2	5	2	6	2	1	2	6	2	1	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:85051153G>A	ENST00000409520.2	-	6	1300	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R371W|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	420					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CGCTTCTTCCGGAACCTCTGT	0.667																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1258-1260)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							37	42	41					2																	85051153		2196	4300	6496	SO:0001583	missense	129293					integral to membrane		g.chr2:85051153G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1258C>T	2.37:g.85051153G>A	ENSP00000387075:p.Arg420Trp					C2orf89_uc002sou.4_Missense_Mutation_p.R371W	p.R420W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1347	-			420					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1258C>T		.	.	.	.	.	.	.	.	.	.	g	16.01	3.000911	0.54254	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.27890	1.64;1.68	3.8	-0.737	0.11129	.	0.659654	0.11632	N	0.544674	T	0.19805	0.0476	.	.	.	0.09310	N	1	D;D	0.56968	0.978;0.968	B;B	0.39840	0.265;0.311	T	0.17258	-1.0375	9	0.87932	D	0	.	4.9233	0.13880	0.1101:0.0:0.3478:0.5422	.	420;371	Q86V40;Q86V40-2	CB089_HUMAN;.	W	371;420	ENSP00000335004:R371W;ENSP00000387075:R420W	ENSP00000335004:R371W	R	-	1	2	C2orf89	84904664	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.085000	0.14912	0.046000	0.15833	0.444000	0.29173	CGG		0.667	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		A	85051153	G	A	85051153	3	1	60	1	0	0	0	0	1	0	0	0	2203	1115	39	2	267	2	C2orf89	2	85051153	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	11008180	85051153	158148220	4	3900											
RGPD4	285190	broad.mit.edu	37	chr2	108489249	108489249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggatctgaaagcaaaGtggaacctaaaaaatgtgaa	19	7	11	4	0	1	3	0	2	1	1	1	5	1	5	1	2	2	1	1	2	7	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:108489249G>A	ENST00000408999.3	+	20	4866	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1597M	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1597					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAGCAAAGTGGAACCTAA	0.378																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4789-4791)Gtg>Atg		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							17	16	16					2																	108489249		690	1590	2280	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108489249G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4789G>A	2.37:g.108489249G>A	ENSP00000386810:p.Val1597Met					RGPD4_uc002tdu.3_Missense_Mutation_p.V784M|RGPD4_uc010ywl.2_Non-coding_Transcript	p.V1597M	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			19	4871	+			1597					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4789G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.620361	0.28801	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.40225	1.04;1.04	2.33	0.265	0.15612	.	.	.	.	.	T	0.29126	0.0724	L	0.54323	1.7	0.20074	N	0.999936	P	0.41748	0.761	B	0.31751	0.135	T	0.18461	-1.0336	9	0.54805	T	0.06	-0.0351	4.5512	0.12114	0.1541:0.2351:0.6107:0.0	.	1597	Q7Z3J3	RGPD4_HUMAN	M	1597;1597;964	ENSP00000347081:V1597M;ENSP00000386810:V1597M	ENSP00000347081:V1597M	V	+	1	0	RGPD4	107855681	0.000000	0.05858	0.385000	0.26158	0.395000	0.30598	-0.664000	0.05292	0.270000	0.21984	0.162000	0.16502	GTG		0.378	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108489249	G	A	108489249	3	1	60	1	0	0	0	0	1	0	0	0	13288	1029	36	3	4867	3	RGPD4	2	108489249	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	23438096	108489249	134710124	5	3901											
TTN	7273	broad.mit.edu	37	chr2	179412923	179412923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggtagccagtgatccGgctgcctccatcgtggtcag	8	8	13	12	2	1	1	1	1	0	0	4	1	3	1	4	3	3	3	4	3	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:179412923G>A	ENST00000591111.1	-	289	88731	c.88507C>T	c.(88507-88509)Cgg>Tgg	p.R29503W	TTN_ENST00000342992.6_Missense_Mutation_p.R28576W|TTN_ENST00000342175.6_Missense_Mutation_p.R22271W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22204W|TTN_ENST00000460472.2_Missense_Mutation_p.R22079W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31144W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29503	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTGATCCGGCTGCCTCCA	0.493																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85726-85728)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							154	155	155					2																	179412923		1987	4174	6161	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412923G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88507C>T	2.37:g.179412923G>A	ENSP00000465570:p.Arg29503Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22271W|TTN_uc021vta.1_Missense_Mutation_p.R22204W|TTN_uc021vtb.1_Missense_Mutation_p.R22079W	p.R28576W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	85951	-			29503			Ig-like 132.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85726C>T		.	.	.	.	.	.	.	.	.	.	G	18.10	3.548780	0.65311	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77445	0.4131	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80469	-0.1369	9	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	22079;22204;22271;29503	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	28576;22079;22271;22204;22076	ENSP00000343764:R28576W;ENSP00000434586:R22079W;ENSP00000340554:R22271W;ENSP00000352154:R22204W	ENSP00000340554:R22271W	R	-	1	2	TTN	179121169	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	CGG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179412923	G	A	179412923	3	1	60	1	0	0	0	0	1	0	0	0	16732	1115	39	2	14645	2	TTN	2	179412923	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	70923674	179412923	63786450	6	3902											
SPEG	10290	broad.mit.edu	37	chr2	220309407	220309407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgacatcagcgatGtgcagggaacccagcgcctg	10	6	14	11	2	1	2	1	2	0	0	1	5	1	4	2	2	4	1	2	2	1	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:220309407G>A	ENST00000312358.7	+	2	553	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.V37M	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	141					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCGATGTGCAGGGAAC	0.622																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(421-423)Gtg>Atg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							52	60	57					2																	220309407		2012	4160	6172	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309407G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.421G>A	2.37:g.220309407G>A	ENSP00000311684:p.Val141Met					SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	p.V141M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	1	421	+		Renal(207;0.0183)	141					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.421G>A	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.05|10.05	1.245182|1.245182	0.22796|0.22796	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	.|T;T;T;T	.|0.63913	.|-0.07;0.77;0.77;0.25	5.03|5.03	3.09|3.09	0.35607|0.35607	.|.	.|1.156430	.|0.06843	.|U	.|0.795972	T|T	0.41328|0.41328	0.1154|0.1154	N|N	0.08118|0.08118	0|0	0.25886|0.25886	N|N	0.983538|0.983538	.|B	.|0.28512	.|0.214	.|B	.|0.28011	.|0.085	T|T	0.36065|0.36065	-0.9763|-0.9763	5|10	.|0.46703	.|T	.|0.11	.|.	5.385|5.385	0.16213|0.16213	0.1877:0.2717:0.5405:0.0|0.1877:0.2717:0.5405:0.0	.|.	.|141	.|Q15772	.|SPEG_HUMAN	Y|M	10|141;141;50;47;37	.|ENSP00000311684:V141M;ENSP00000393134:V50M;ENSP00000410986:V47M;ENSP00000379926:V37M	.|ENSP00000265327:V141M	C|V	+|+	2|1	0|0	SPEG|SPEG	220017651|220017651	0.975000|0.975000	0.34042|0.34042	0.979000|0.979000	0.43373|0.43373	0.984000|0.984000	0.73092|0.73092	1.353000|1.353000	0.34045|0.34045	1.087000|1.087000	0.41251|0.41251	0.442000|0.442000	0.29010|0.29010	TGT|GTG		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220309407	G	A	220309407	3	1	60	1	0	0	0	0	1	0	0	0	15035	1377	48	3	427	3	SPEG	2	220309407	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	40896484	220309407	22889966	7	3903											
DOCK10	55619	broad.mit.edu	37	chr2	225706579	225706579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatctttctctctttttTggcactcttggaaaaatgca	10	17	5	9	0	4	0	0	0	4	0	5	1	4	1	0	2	1	2	0	2	3	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:225706579T>C	ENST00000258390.7	-	23	2670	c.2603A>G	c.(2602-2604)cAa>cGa	p.Q868R	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q862R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	868					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTCTTTTTTGGCACTCTTG	0.383																																						uc010fwz.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(2602-2604)cAa>cGa		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							268	249	255					2																	225706579		1897	4126	6023	SO:0001583	missense	55619						GTP binding	g.chr2:225706579T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2603A>G	2.37:g.225706579T>C	ENSP00000258390:p.Gln868Arg					DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	p.Q868R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	22	2842	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	868			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2603A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753191	0.89753	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19806	2.12;2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	M	0.70903	2.155	0.48087	D	0.999582	D;D	0.69078	0.995;0.997	D;D	0.72625	0.978;0.909	T	0.47598	-0.9105	10	0.87932	D	0	.	16.0204	0.80478	0.0:0.0:0.0:1.0	.	868;862	Q96BY6;B3FL70	DOC10_HUMAN;.	R	862;868	ENSP00000386694:Q862R;ENSP00000258390:Q868R	ENSP00000258390:Q868R	Q	-	2	0	DOCK10	225414823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.499000	0.81566	2.174000	0.68829	0.533000	0.62120	CAA		0.383	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225706579	T	C	225706579	3	2	60	1	0	0	0	0	1	0	0	0	4685	1812	63	4	4093	4	DOCK10	2	225706579	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	5397172	225706579	17492794	8	3904											
DGKD	8527	broad.mit.edu	37	chr2	234368926	234368926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccctgcacccggagatGctgtccgaggaggaggccac	7	7	14	13	2	0	1	0	0	0	1	2	5	2	3	4	4	2	3	4	4	0	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234368926G>A	ENST00000264057.2	+	24	2928	c.2916G>A	c.(2914-2916)atG>atA	p.M972I	DGKD_ENST00000409813.3_Missense_Mutation_p.M928I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	972					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCGGAGATGCTGTCCGAGG	0.617																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2914-2916)atG>atA		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						87	79	81					2																	234368926		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234368926G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2916G>A	2.37:g.234368926G>A	ENSP00000264057:p.Met972Ile					DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_Non-coding_Transcript	p.M972I	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	23	2928	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	972					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2916G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788664	0.16258	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.78364	-0.99;-1.17	4.93	3.12	0.35913	.	0.425083	0.24007	N	0.042416	T	0.41419	0.1158	N	0.00652	-1.29	0.20403	N	0.999909	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33214	-0.9877	10	0.21014	T	0.42	.	4.9917	0.14218	0.132:0.4809:0.3087:0.0784	.	928;972	Q16760-2;Q16760	.;DGKD_HUMAN	I	972;928	ENSP00000264057:M972I;ENSP00000386455:M928I	ENSP00000264057:M972I	M	+	3	0	DGKD	234033665	1.000000	0.71417	0.994000	0.49952	0.551000	0.35334	1.017000	0.29989	0.790000	0.33803	0.563000	0.77884	ATG		0.617	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		A	234368926	G	A	234368926	3	1	60	1	0	0	0	0	1	0	0	0	4467	1319	46	3	3034	3	DGKD	2	234368926	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	8662347	234368926	8830447	9	3905											
MSL3L2	151507	broad.mit.edu	37	chr2	234775617	234775617	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgggatataaggcacGttcatgctggcatgtggcat	8	12	13	8	1	2	0	1	0	1	0	2	1	2	1	0	4	2	6	0	4	2	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234775617G>A	ENST00000438684.1	-	0	497					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TATAAGGCACGTTCATGCTGG	0.438																																						uc010znf.2																			0											c.(223-225)aaC>aaT		Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.							266	205	224					2																	234775617		692	1591	2283			151507							g.chr2:234775617G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775617G>A							p.N75N							1	463	-									Silent	SNP	ENST00000438684.1	37	c.225C>T																																																																																					0.438	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		A	234775617	G	A	234775617	1	1	60	0	1	0	0	0	0	0	0	0	9880	1136	40	1		1	MSL3L2	2	234775617	RNA	SNP	G	TCGA-06-0744-01A-01W-0348-08	406691	234775617	8423756	10	3906											
IQCF3	401067	broad.mit.edu	37	chr3	51863721	51863721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagaaagacagaggcGgcagaaggtaggtggggccc	12	4	18	7	1	0	4	0	0	0	4	0	4	0	4	1	6	1	4	1	6	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:51863721G>A	ENST00000456080.1	+	7	1224	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	IQCF3_ENST00000437810.2_Missense_Mutation_p.R20Q|IQCF3_ENST00000444293.1_Missense_Mutation_p.R20Q|IQCF3_ENST00000446775.1_Missense_Mutation_p.R20Q|IQCF3_ENST00000440739.2_Missense_Mutation_p.R20Q			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	20										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACAGAGGCGGCAGAAGGTA	0.522																																						uc021wyy.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(58-60)cGg>cAg		Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.							98	122	114					3																	51863721		2016	4172	6188	SO:0001583	missense	401067							g.chr3:51863721G>A	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.59G>A	3.37:g.51863721G>A	ENSP00000415609:p.Arg20Gln					IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.R20Q	p.R20Q	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	847	+			20					B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	c.59G>A	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	G	5.906	0.351287	0.11182	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739;ENST00000444293	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.59	-7.19	0.01500	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	9	0.11485	T	0.65	.	4.6047	0.12371	0.2764:0.0:0.2618:0.4618	.	20	P0C7M6	IQCF3_HUMAN	Q	20	ENSP00000415609:R20Q;ENSP00000409373:R20Q;ENSP00000401767:R20Q;ENSP00000402012:R20Q	ENSP00000409373:R20Q	R	+	2	0	IQCF3	51838761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.272000	0.02826	-2.364000	0.00607	-2.279000	0.00272	CGG		0.522	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		A	51863721	G	A	51863721	3	1	60	1	0	0	0	0	1	0	0	0	7809	1116	39	2	65	2	IQCF3	3	51863721	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		51863721	146158709	11	3907											
POU1F1	5449	broad.mit.edu	37	chr3	87325559	87325559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcagagttgcagaggcGtcagaattcagaggtataaa	15	7	14	5	1	2	5	2	0	0	5	2	5	2	5	0	3	1	4	0	3	4	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:87325559G>A	ENST00000350375.2	-	1	178	c.54C>T	c.(52-54)gaC>gaT	p.D18D	POU1F1_ENST00000344265.3_Silent_p.D18D|POU1F1_ENST00000560656.1_Silent_p.D18D	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	18					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTGCAGAGGCGTCAGAATTCA	0.478																																						uc010hoj.1																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(52-54)gaC>gaT		Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.							109	110	110					3																	87325559		2203	4300	6503	SO:0001819	synonymous_variant	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325559G>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.54C>T	3.37:g.87325559G>A						POU1F1_uc003dqq.1_Silent_p.D18D	p.D18D	NM_001122757	NP_001116229	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	0	179	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	18					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	ENST00000350375.2	37	c.54C>T	CCDS2919.1																																																																																				0.478	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		A	87325559	G	A	87325559	2	1	60	1	0	0	0	0	0	0	0	1	12269	1136	40	1		1	POU1F1	3	87325559	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	35461838	87325559	110696871	12	3908											
UROC1	131669	broad.mit.edu	37	chr3	126219669	126219669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtctgatctgaccccagGtccaccaagcactcccccgt	8	8	8	17	1	2	2	0	2	2	0	4	3	4	2	6	1	1	1	6	1	1	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:126219669G>C	ENST00000290868.2	-	11	1067	c.1014C>G	c.(1012-1014)gaC>gaG	p.D338E	UROC1_ENST00000383579.3_Missense_Mutation_p.D398E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	338					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGACCCCAGGTCCACCAAGC	0.632																																						uc010hsi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1192-1194)gaC>gaG		Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.							100	91	94					3																	126219669		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126219669G>C	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1014C>G	3.37:g.126219669G>C	ENSP00000290868:p.Asp338Glu					UROC1_uc003eiz.2_Missense_Mutation_p.D338E	p.D398E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	11	1248	-			338					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1194C>G	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	g	12.04	1.818201	0.32145	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.53640	0.61;0.61	4.94	2.62	0.31277	Urocanase domain (2);	0.218728	0.46145	D	0.000310	T	0.40297	0.1111	L	0.49350	1.555	0.45261	D	0.998262	B;B	0.16396	0.017;0.001	B;B	0.28553	0.091;0.026	T	0.13388	-1.0511	10	0.30854	T	0.27	-15.5785	8.1932	0.31381	0.1793:0.0:0.8207:0.0	.	398;338	E9PE13;Q96N76	.;HUTU_HUMAN	E	338;398	ENSP00000290868:D338E;ENSP00000373073:D398E	ENSP00000290868:D338E	D	-	3	2	UROC1	127702359	0.998000	0.40836	1.000000	0.80357	0.918000	0.54935	0.608000	0.24223	0.255000	0.21593	0.486000	0.48141	GAC		0.632	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		C	126219669	G	C	126219669	3	2	60	1	0	0	0	0	1	0	0	0	17025	1252	44	5	1056	5	UROC1	3	126219669	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	38894110	126219669	71802761	13	3909											
ATR	545	broad.mit.edu	37	chr3	142280158	142280158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccttttgggtgatattcCatcactattactgctgaggt	8	15	9	9	1	1	2	1	2	0	0	2	2	2	2	2	2	2	1	2	2	3	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:142280158C>T	ENST00000350721.4	-	5	1397	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	ATR_ENST00000383101.3_Missense_Mutation_p.G426R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	426					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTGATATTCCATCACTATTA	0.418								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1276-1278)Gga>Aga	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							239	220	226					3																	142280158		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142280158C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1276G>A	3.37:g.142280158C>T	ENSP00000343741:p.Gly426Arg						p.G426R	NM_001184	NP_001175	Q13535	ATR_HUMAN			4	1398	-			426					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1276G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550561	0.65311	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.03496	4.0;3.91	5.05	5.05	0.67936	Armadillo-type fold (1);	0.610047	0.15965	N	0.236055	T	0.04861	0.0131	L	0.27053	0.805	0.22531	N	0.999015	P	0.41366	0.747	B	0.40782	0.34	T	0.43360	-0.9396	10	0.38643	T	0.18	-0.5537	17.5189	0.87782	0.0:1.0:0.0:0.0	.	426	Q13535	ATR_HUMAN	R	426;426;107	ENSP00000343741:G426R;ENSP00000372581:G426R	ENSP00000343741:G426R	G	-	1	0	ATR	143762848	0.998000	0.40836	0.062000	0.19696	0.943000	0.58893	4.035000	0.57297	2.514000	0.84764	0.491000	0.48974	GGA		0.418	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142280158	C	T	142280158	3	4	60	1	0	0	0	0	1	0	0	0	1204	603	21	3	6830	3	ATR	3	142280158	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	16060489	142280158	55742272	14	3910											
MAP3K13	9175	broad.mit.edu	37	chr3	185165672	185165672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgtcatttgctggcaCggtcgcatggatggcgccag	8	9	14	10	3	1	1	1	0	0	1	2	2	1	2	1	4	1	3	1	4	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:185165672C>A	ENST00000265026.3	+	5	1281	c.947C>A	c.(946-948)aCg>aAg	p.T316K	MAP3K13_ENST00000443863.1_Missense_Mutation_p.T172K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T316K|MAP3K13_ENST00000446828.1_Missense_Mutation_p.T109K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.T172K	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTTGCTGGCACGGTCGCATGG	0.443																																						uc010hyf.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(946-948)aCg>aAg		Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.							74	71	72					3																	185165672		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185165672C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.947C>A	3.37:g.185165672C>A	ENSP00000265026:p.Thr316Lys					MAP3K13_uc011brt.2_Missense_Mutation_p.T109K|MAP3K13_uc003fph.4_Missense_Mutation_p.T84K|MAP3K13_uc011bru.2_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.3_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.3_Missense_Mutation_p.T6K	p.T316K	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		5	1238	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		316			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.947C>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680622	0.88542	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;D;D;D;D;T	0.92495	0.81;-3.05;-3.05;-3.05;-3.05;-0.58	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96551	0.9408	10	0.87932	D	0	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	172;109;316	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	K	109;316;172;172;316;61	ENSP00000411483:T109K;ENSP00000399910:T316K;ENSP00000409325:T172K;ENSP00000439257:T172K;ENSP00000265026:T316K;ENSP00000415712:T61K	ENSP00000265026:T316K	T	+	2	0	MAP3K13	186648366	1.000000	0.71417	0.980000	0.43619	0.509000	0.34042	7.784000	0.85713	2.779000	0.95612	0.650000	0.86243	ACG		0.443	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		A	185165672	C	A	185165672	3	1	60	1	0	0	0	0	1	0	0	0	9247	536	19	5	961	5	MAP3K13	3	185165672	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	42885514	185165672	12856758	15	3911											
KNG1	3827	broad.mit.edu	37	chr3	186457116	186457116	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttctgttttcatggataGcaaagcctagattgcaacgc	11	12	9	9	1	2	1	1	0	1	1	2	3	2	2	1	1	4	3	1	1	4	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:186457116G>A	ENST00000265023.4	+	9	1250		c.e9-1		RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Splice_Site|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Splice_Site	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTCATGGATAGCAAAGCCTAG	0.373																																						uc011bsa.2																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.e9-1		Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	Ouabain(DB01092)						105	100	102					3																	186457116		2203	4300	6503	SO:0001630	splice_region_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186457116G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1039-1G>A	3.37:g.186457116G>A						KNG1_uc003fqr.3_Splice_Site_p.Q347_splice|KNG1_uc021xil.1_Splice_Site_p.Q311_splice	p.Q347_splice	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1273	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		347			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Splice_Site	SNP	ENST00000265023.4	37	c.1039_splice	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800253	0.31869	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1087	0.59261	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNG1	187939810	0.797000	0.28877	0.125000	0.21846	0.122000	0.20287	3.795000	0.55499	2.811000	0.96726	0.557000	0.71058	.		0.373	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	Intron	A	186457116	G	A	186457116	5	1	60	1	0	0	0	0	0	0	1	0	8427	985	34	3	1072	3	KNG1	3	186457116	Splice_Site	SNP	G	TCGA-06-0744-01A-01W-0348-08	1291444	186457116	11565314	16	3912											
TP63	8626	broad.mit.edu	37	chr3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggagctgttatccgcGccatgcctgtctacaaaaaa	11	9	9	12	2	2	0	1	0	1	0	3	1	3	1	3	1	3	2	3	1	5	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(679-681)Gcc>Acc		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							123	120	121					3																	189582120		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582120G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.679G>A	3.37:g.189582120G>A	ENSP00000264731:p.Ala227Thr	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.A227T|TP63_uc003frz.2_Missense_Mutation_p.A227T|TP63_uc010hzc.1_Missense_Mutation_p.A227T|TP63_uc003fsa.2_Missense_Mutation_p.A133T|TP63_uc003fsb.2_Missense_Mutation_p.A133T|TP63_uc003fsc.2_Missense_Mutation_p.A133T|TP63_uc003fsd.2_Missense_Mutation_p.A133T|TP63_uc021xir.1_Missense_Mutation_p.A133T|TP63_uc010hzd.1_Missense_Mutation_p.A48T|TP63_uc003fse.1_Missense_Mutation_p.A108T	p.A227T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	768	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		227					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.679G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	TP63	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189582120	G	A	189582120	3	1	60	1	0	0	0	0	1	0	0	0	16389	1087	38	1	743	1	TP63	3	189582120	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	3125004	189582120	8440310	17	3913											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107274	6107274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcctggtaggcggcacGcaggtcggctgccttggtct	3	9	17	12	4	1	0	0	0	1	0	2	0	1	0	2	6	2	4	2	6	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:6107274G>A	ENST00000282924.5	-	3	1035	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R184C|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R184C|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	184	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCGGCACGCAGGTCGGCT	0.682																																						uc010idb.1																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(550-552)Cgt>Tgt		Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.							25	22	23					4																	6107274		2202	4298	6500	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107274G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.550C>T	4.37:g.6107274G>A	ENSP00000282924:p.Arg184Cys					JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc003giu.4_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.3_Missense_Mutation_p.R184C	p.R184C	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN			2	1036	-			184			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.550C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582610	0.65992	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831	T;T;T	0.37915	1.17;1.17;1.17	4.5	2.6	0.31112	.	0.000000	0.64402	D	0.000003	T	0.56673	0.2001	M	0.81497	2.545	0.80722	D	1	D;B;D	0.89917	1.0;0.025;1.0	D;B;D	0.85130	0.997;0.007;0.997	T	0.58831	-0.7567	10	0.87932	D	0	.	7.818	0.29271	0.0872:0.0:0.7526:0.1602	.	184;184;184	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	C	184;184;184;76;184;184	ENSP00000386711:R184C;ENSP00000282924:R184C;ENSP00000386925:R184C	ENSP00000282924:R184C	R	-	1	0	JAKMIP1	6158175	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	3.962000	0.56766	1.013000	0.39391	0.484000	0.47621	CGT		0.682	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		A	6107274	G	A	6107274	3	1	60	1	0	0	0	0	1	0	0	0	7940	1087	38	1	2096	1	JAKMIP1	4	6107274	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		6107274	185047002	18	3914											
CENPE	1062	broad.mit.edu	37	chr4	104079809	104079809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatatcacttttgagttggtCcctctcaatttgcaagcttt	9	17	6	9	0	2	1	2	1	1	0	4	1	3	1	1	1	2	3	1	1	4	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:104079809C>T	ENST00000265148.3	-	23	2925	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CENPE_ENST00000380026.3_Missense_Mutation_p.D921N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	946					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGTTGGTCCCTCTCAATT	0.333																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(2836-2838)Gac>Aac		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							153	142	146					4																	104079809		2203	4299	6502	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104079809C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2836G>A	4.37:g.104079809C>T	ENSP00000265148:p.Asp946Asn					CENPE_uc003hxc.1_Missense_Mutation_p.D921N	p.D946N	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	22	2926	-			946					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2836G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126094	0.56721	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.94138	-3.36;-3.36;-3.36	5.12	5.12	0.69794	.	.	.	.	.	D	0.95862	0.8653	L	0.61387	1.9	0.48901	D	0.999727	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.922	D	0.95999	0.8992	9	0.62326	D	0.03	.	16.7007	0.85349	0.0:1.0:0.0:0.0	.	921;946	Q02224-3;Q02224	.;CENPE_HUMAN	N	946;946;921;946	ENSP00000265148:D946N;ENSP00000369365:D921N;ENSP00000423981:D946N	ENSP00000265148:D946N	D	-	1	0	CENPE	104299258	0.996000	0.38824	0.985000	0.45067	0.963000	0.63663	4.273000	0.58914	2.528000	0.85240	0.650000	0.86243	GAC		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	104079809	C	T	104079809	3	4	60	1	0	0	0	0	1	0	0	0	3230	855	30	3	5377	3	CENPE	4	104079809	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	97972535	104079809	87074467	19	3915											
EXOSC9	5393	broad.mit.edu	37	chr4	122735086	122735086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggagtagaaaactcctGgggtgatcttgaagactctg	12	9	14	6	0	2	5	0	2	2	3	3	6	3	6	1	3	1	1	1	3	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:122735086G>C	ENST00000243498.5	+	10	1148	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S	EXOSC9_ENST00000512454.1_Missense_Mutation_p.W331S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.W347S	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	347					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAAACTCCTGGGGTGATCTT	0.413																																						uc003iea.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(1039-1041)tGg>tCg		Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.							131	130	130					4																	122735086		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122735086G>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1040G>C	4.37:g.122735086G>C	ENSP00000243498:p.Trp347Ser					EXOSC9_uc003idz.3_Missense_Mutation_p.W347S|EXOSC9_uc003ieb.3_Missense_Mutation_p.W331S|EXOSC9_uc010inp.1_Non-coding_Transcript	p.W347S	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			9	1148	+			347					Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.1040G>C	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265400	0.80358	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.54866	0.63;0.55;0.59	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.71073	-0.4698	10	0.52906	T	0.07	-13.8262	19.9944	0.97379	0.0:0.0:1.0:0.0	.	331;347;347	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	S	347;347;331	ENSP00000243498:W347S;ENSP00000368984:W347S;ENSP00000425782:W331S	ENSP00000243498:W347S	W	+	2	0	EXOSC9	122954536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.578000	0.82498	2.720000	0.93068	0.557000	0.71058	TGG		0.413	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		C	122735086	G	C	122735086	3	2	60	1	0	0	0	0	1	0	0	0	5321	1357	47	5	1078	5	EXOSC9	4	122735086	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	18655277	122735086	68419190	20	3916											
GYPA	2994	broad.mit.edu	37	chr4	145038021	145038021	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacctttatcagtcggcGaataccgtaagaaattaaga	14	11	7	9	3	2	2	2	0	1	2	4	3	2	2	2	1	1	1	2	1	6	5	rs572116498		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:145038021G>A	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Missense_Mutation_p.R102C|GYPA_ENST00000504786.1_Missense_Mutation_p.R83C|GYPA_ENST00000324022.10_Missense_Mutation_p.R82C|GYPA_ENST00000512789.1_Missense_Mutation_p.R50C|GYPA_ENST00000503627.1_Missense_Mutation_p.R70C|GYPA_ENST00000535709.1_Missense_Mutation_p.R89C|GYPA_ENST00000360771.4_Missense_Mutation_p.R115C|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ATCAGTCGGCGAATACCGTAA	0.368													g|||	1	0.000199681	0	0	5008	,	,		16074	0		0	False		,,,				2504	0.001					uc003ijo.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(343-345)Cgc>Tgc		Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.							115	117	117					4																	145038021		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145038021G>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23730C>T	4.37:g.145038021G>A						GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	p.R115C	NM_002099	NP_002090	P02724	GLPA_HUMAN			4	459	-	all_hematologic(180;0.15)		115					B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.343C>T		.	.	.	.	.	.	.	.	.	.	g	4.928	0.172363	0.09391	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03	4.79	-9.57	0.00562	.	1.769880	0.03134	N	0.165531	T	0.30008	0.0751	L	0.52573	1.65	0.09310	N	1	D;D;D;D;B	0.76494	0.999;0.999;0.999;0.999;0.044	D;P;P;D;B	0.63192	0.912;0.848;0.848;0.912;0.016	T	0.66858	-0.5817	10	0.51188	T	0.08	2.451	2.9943	0.05993	0.1767:0.1987:0.4051:0.2195	.	82;50;102;83;115	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	C	115;82;89;102;50;83;70	ENSP00000354003:R115C;ENSP00000324483:R82C;ENSP00000445398:R89C;ENSP00000426130:R102C;ENSP00000425193:R50C;ENSP00000425549:R83C;ENSP00000421243:R70C	ENSP00000324483:R82C	R	-	1	0	GYPA	145257471	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.788000	0.00185	-7.582000	0.00001	-1.987000	0.00451	CGC		0.368	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		A	145038021	G	A	145038021	1	1	60	0	1	0	0	0	0	0	0	0	6908	1058	37	2		2	GYPA	4	145038021	Intron	SNP	G	TCGA-06-0744-01A-01W-0348-08	22302935	145038021	46116255	21	3917											
ADAM29	11086	broad.mit.edu	37	chr4	175897195	175897195	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcaaaatgaaataacatgCcgaatggaatttgaagaaat	20	9	8	4	1	0	3	0	2	0	1	0	5	0	4	1	1	3	1	1	1	8	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:175897195C>A	ENST00000359240.3	+	5	1189	c.519C>A	c.(517-519)tgC>tgA	p.C173*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.C173*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.C173*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.C173*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	173					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAATAACATGCCGAATGGAAT	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(517-519)tgC>tgA		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							85	87	86					4																	175897195		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897195C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.519C>A	4.37:g.175897195C>A	ENSP00000352177:p.Cys173*					ADAM29_uc003iud.3_Nonsense_Mutation_p.C173*|ADAM29_uc010irr.3_Nonsense_Mutation_p.C173*|ADAM29_uc011cki.2_Nonsense_Mutation_p.C173*|ADAM29_uc021xuo.1_Nonsense_Mutation_p.C173*	p.C173*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1189	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	173					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.519C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381950	0.82792	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	3.53	-0.536	0.11876	.	2.051170	0.03070	U	0.157019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.656	0.05012	0.1761:0.3733:0.3441:0.1066	.	.	.	.	X	173	.	.	C	+	3	2	ADAM29	176133770	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.856000	0.01662	-0.149000	0.11215	0.643000	0.83706	TGC		0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175897195	C	A	175897195	4	1	60	1	0	0	0	0	0	1	0	0	247	747	26	5	521	5	ADAM29	4	175897195	Nonsense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	30859174	175897195	15257081	22	3918											
CCDC110	256309	broad.mit.edu	37	chr4	186381243	186381243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagttaatgtgtcctcGgaatgtatctgggatggaac	10	12	12	7	1	2	1	1	0	1	1	4	4	3	4	1	3	1	2	1	3	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:186381243G>A	ENST00000307588.3	-	6	573	c.498C>T	c.(496-498)tcC>tcT	p.S166S	CCDC110_ENST00000510617.1_Silent_p.S166S|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Silent_p.S129S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	166						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTGTCCTCGGAATGTATCT	0.348																																						uc003ixu.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(496-498)tcC>tcT		Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.							116	113	114					4																	186381243		2203	4300	6503	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186381243G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.498C>T	4.37:g.186381243G>A						CCDC110_uc003ixv.4_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	p.S166S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	574	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	166					Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.498C>T	CCDS3843.1																																																																																				0.348	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		A	186381243	G	A	186381243	2	1	60	1	0	0	0	0	0	0	0	1	2747	1103	39	2		2	CCDC110	4	186381243	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	10484048	186381243	4773033	23	3919											
ADCY2	108	broad.mit.edu	37	chr5	7743842	7743842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccttcatcctcttcGtctgctttgctggacagctt	3	16	9	13	1	3	0	1	0	2	0	5	1	4	1	2	2	4	4	2	2	0	4	rs202064623	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:7743842G>A	ENST00000338316.4	+	15	2022	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.V465I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	645					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCCTCTTCGTCTGCTTTGC	0.478													G|||	2	0.000399361	0	0	5008	,	,		17719	0.002		0	False		,,,				2504	0					uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1933-1935)Gtc>Atc		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.							319	285	297					5																	7743842		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7743842G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1933G>A	5.37:g.7743842G>A	ENSP00000342952:p.Val645Ile					ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	p.V645I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			14	2000	+			645					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1933G>A	CCDS3872.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.102	0.776967	0.16120	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.80994	-0.94;-1.44	5.48	1.03	0.20045	.	0.387188	0.27526	N	0.018980	T	0.55752	0.1940	N	0.15975	0.35	0.27448	N	0.953532	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31998	-0.9923	10	0.10111	T	0.7	.	3.677	0.08295	0.3719:0.1837:0.4444:0.0	.	465;645	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	645;478;465	ENSP00000342952:V645I;ENSP00000444803:V465I	ENSP00000342952:V645I	V	+	1	0	ADCY2	7796842	0.996000	0.38824	0.942000	0.38095	0.631000	0.37964	0.829000	0.27449	0.355000	0.24131	-0.234000	0.12200	GTC		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7743842	G	A	7743842	3	1	60	1	0	0	0	0	1	0	0	0	294	1145	40	1	1991	1	ADCY2	5	7743842	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		7743842	173171418	24	3920											
PDZD2	23037	broad.mit.edu	37	chr5	31995769	31995769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggccgaggatcaaagCgctcacctcacgctatcgtt	9	8	12	12	4	3	0	3	0	0	0	4	3	3	2	2	3	1	3	2	3	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:31995769C>T	ENST00000438447.1	+	4	1454	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R356C			O15018	PDZD2_HUMAN	PDZ domain containing 2	356	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGATCAAAGCGCTCACCTCA	0.532																																						uc003jhl.3																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(1066-1068)Cgc>Tgc		Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.							181	164	170					5																	31995769		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31995769C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1066C>T	5.37:g.31995769C>T	ENSP00000402033:p.Arg356Cys					PDZD2_uc003jhm.3_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	p.R356C	NM_178140	NP_835260	O15018	PDZD2_HUMAN			3	1454	+			356			PDZ 2.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1066C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689244	0.68271	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.39787	1.06;1.06	5.04	5.04	0.67666	PDZ/DHR/GLGF (4);	0.000000	0.41097	D	0.000945	T	0.56529	0.1991	L	0.52364	1.645	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58858	-0.7562	10	0.87932	D	0	.	11.0602	0.47942	0.1853:0.8147:0.0:0.0	.	182;356	B4E3P2;O15018	.;PDZD2_HUMAN	C	356	ENSP00000402033:R356C;ENSP00000282493:R356C	ENSP00000282493:R356C	R	+	1	0	PDZD2	32031526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.809000	0.38922	2.339000	0.79563	0.467000	0.42956	CGC		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	31995769	C	T	31995769	3	4	60	1	0	0	0	0	1	0	0	0	11701	768	27	1	1076	1	PDZD2	5	31995769	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	24251927	31995769	148919491	25	3921											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576992	33576992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactagggctgctgattgCtggagtgcttgtgctcatag	7	12	15	7	0	1	1	1	1	0	0	1	3	1	3	0	3	4	5	0	3	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33576992C>T	ENST00000504830.1	-	19	3474	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A962T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1047	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCTGATTGCTGGAGTGCTT	0.552										HNSCC(64;0.19)																												uc003jia.1																			0		p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3139-3141)Gca>Aca		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							142	136	138					5																	33576992		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576992C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3139G>A	5.37:g.33576992C>T	ENSP00000422554:p.Ala1047Thr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	p.A1047T	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	3302	-			1047			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3139G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052376	0.01981	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58652	0.32;0.32	5.08	-0.819	0.10829	.	0.931548	0.09099	N	0.848747	T	0.29652	0.0740	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20840	-1.0263	10	0.14252	T	0.57	.	6.8574	0.24048	0.0:0.4053:0.1213:0.4734	.	962;1047	P58397-3;P58397	.;ATS12_HUMAN	T	1047;962	ENSP00000422554:A1047T;ENSP00000344847:A962T	ENSP00000344847:A962T	A	-	1	0	ADAMTS12	33612749	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.625000	0.05534	-0.047000	0.13423	0.655000	0.94253	GCA		0.552	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33576992	C	T	33576992	3	4	60	1	0	0	0	0	1	0	0	0	257	797	28	3	1669	3	ADAMTS12	5	33576992	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	1581223	33576992	147338268	26	3922											
ADAMTS12	81792	broad.mit.edu	37	chr5	33684033	33684033	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcaatcatctttgtgtcGgccaccaccagtgtctccac	8	13	6	14	1	4	0	2	0	2	0	6	0	4	0	4	1	0	0	4	1	2	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33684033G>A	ENST00000504830.1	-	4	1097	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.A254A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	254	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTGTGTCGGCCACCACCA	0.547										HNSCC(64;0.19)																												uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(760-762)gcC>gcT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							136	126	130					5																	33684033		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684033G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.762C>T	5.37:g.33684033G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.A254A	p.A254A	NM_030955	NP_112217	P58397	ATS12_HUMAN			3	925	-			254			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.762C>T	CCDS34140.1																																																																																				0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33684033	G	A	33684033	2	1	60	1	0	0	0	0	0	0	0	1	257	1103	39	2		2	ADAMTS12	5	33684033	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	107041	33684033	147231227	27	3923											
OSMR	9180	broad.mit.edu	37	chr5	38924670	38924670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggcgaggcagtgccacCcacgatttgaaaaggcagtt	12	6	12	11	2	0	1	0	1	0	0	0	3	0	1	3	3	1	3	3	3	3	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:38924670C>T	ENST00000274276.3	+	14	2419	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	673	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAGTGCCACCCACGATTTGA	0.358																																						uc003jln.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2017-2019)Cca>Tca		Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.							137	125	129					5																	38924670		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38924670C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2017C>T	5.37:g.38924670C>T	ENSP00000274276:p.Pro673Ser					OSMR_uc011cpj.2_5'UTR	p.P673S	NM_003999	NP_003990	Q99650	OSMR_HUMAN			13	2419	+	all_lung(31;0.000365)		673			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2017C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	8.524	0.869446	0.17322	.	.	ENSG00000145623	ENST00000274276	T	0.42900	0.96	5.91	2.8	0.32819	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.704510	0.02228	N	0.064668	T	0.33818	0.0876	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.20974	-1.0259	10	0.07482	T	0.82	.	5.6933	0.17841	0.1411:0.6384:0.0:0.2204	.	673	Q99650	OSMR_HUMAN	S	673	ENSP00000274276:P673S	ENSP00000274276:P673S	P	+	1	0	OSMR	38960427	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.280000	0.08468	0.664000	0.31047	0.655000	0.94253	CCA		0.358	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		T	38924670	C	T	38924670	3	4	60	1	0	0	0	0	1	0	0	0	11292	623	22	3	2105	3	OSMR	5	38924670	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	5240637	38924670	141990590	28	3924											
CMYA5	202333	broad.mit.edu	37	chr5	79035031	79035031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaacaaaaagagttGggcagcgagaggaaagaaga	17	4	14	6	1	0	5	0	1	0	4	0	7	0	6	1	2	3	3	1	2	5	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:79035031G>A	ENST00000446378.2	+	2	10474	c.10443G>A	c.(10441-10443)ttG>ttA	p.L3481L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3481					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGAGTTGGGCAGCGAGA	0.403																																						uc003kgc.3																			0		p.E3480*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10441-10443)ttG>ttA		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							78	70	72					5																	79035031		1898	4126	6024	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79035031G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10443G>A	5.37:g.79035031G>A							p.L3481L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	10515	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3481					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.10443G>A	CCDS47238.1																																																																																				0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79035031	G	A	79035031	2	1	60	1	0	0	0	0	0	0	0	1	3590	1339	47	3		3	CMYA5	5	79035031	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	40110361	79035031	101880229	29	3925											
CTNNA1	1495	broad.mit.edu	37	chr5	138253458	138253458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcactggctttagcaGcaaaaccacagagtaaactg	14	8	9	10	0	0	1	0	0	0	1	0	1	0	1	1	1	6	6	1	1	5	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:138253458G>A	ENST00000302763.7	+	11	1507	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A370T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A473T|CTNNA1_ENST00000540387.1_Missense_Mutation_p.A103T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	473				A -> P (in Ref. 3; AAA86430/AAA18949). {ECO:0000305}.	adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCTTTAGCAGCAAAACCACA	0.388																																						uc003ldh.3																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1417-1419)Gca>Aca		Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.							152	158	156					5																	138253458		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138253458G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1417G>A	5.37:g.138253458G>A	ENSP00000304669:p.Ala473Thr					CTNNA1_uc011cyx.2_Missense_Mutation_p.A370T|CTNNA1_uc011cyy.2_Missense_Mutation_p.A350T|CTNNA1_uc003ldi.3_Missense_Mutation_p.A171T|CTNNA1_uc003ldj.3_Missense_Mutation_p.A473T|CTNNA1_uc003ldl.3_Missense_Mutation_p.A103T	p.A473T	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1512	+			473	A -> P (in Ref. 3; AAA86430/AAA18949).				Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1417G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790473	0.96945	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000522013;ENST00000523298;ENST00000517533;ENST00000523685;ENST00000540387	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.80183	2.485	0.80722	D	1	D;P;P	0.56035	0.974;0.597;0.935	P;B;P	0.61003	0.788;0.287;0.882	T	0.56202	-0.8018	10	0.22706	T	0.39	-8.0628	18.7434	0.91782	0.0:0.0:1.0:0.0	.	473;350;473	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	370;473;473;458;473;103;103;103;103;103	ENSP00000347190:A370T;ENSP00000304669:A473T;ENSP00000427821:A473T;ENSP00000430379:A103T;ENSP00000428044:A103T;ENSP00000431118:A103T;ENSP00000430240:A103T;ENSP00000438476:A103T	ENSP00000304669:A473T	A	+	1	0	CTNNA1	138281357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.532000	0.85374	0.650000	0.86243	GCA		0.388	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		A	138253458	G	A	138253458	3	1	60	1	0	0	0	0	1	0	0	0	4012	971	34	3	1455	3	CTNNA1	5	138253458	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	59218427	138253458	42661802	30	3926											
PCDHA8	56140	broad.mit.edu	37	chr5	140222780	140222780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgcatcccgttccgcgtggGgctgtacacgggcgagatca	6	8	14	13	6	1	1	1	0	0	1	4	2	3	1	2	3	1	4	2	3	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140222780G>T	ENST00000531613.1	+	1	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	PCDHA8_ENST00000378123.3_Missense_Mutation_p.G625V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGCGTGGGGCTGTACACG	0.652																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1873-1875)gGg>gTg		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							105	103	104					5																	140222780		2198	4270	6468	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222780G>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1874G>T	5.37:g.140222780G>T	ENSP00000434655:p.Gly625Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G625V	p.G625V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1874	+			636			Cadherin 6.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1874G>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178435	0.38511	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.21543	2.0;2.0	2.93	2.02	0.26589	Cadherin (4);Cadherin-like (1);	0.443885	0.16053	U	0.231876	T	0.48572	0.1507	M	0.86953	2.85	0.48087	D	0.999582	D;D	0.76494	0.992;0.999	D;D	0.69824	0.934;0.966	T	0.54443	-0.8293	10	0.87932	D	0	.	11.8088	0.52171	0.0:0.1794:0.8206:0.0	.	625;625	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	625	ENSP00000434655:G625V;ENSP00000367363:G625V	ENSP00000367363:G625V	G	+	2	0	PCDHA8	140202964	0.138000	0.22547	0.998000	0.56505	0.148000	0.21650	0.769000	0.26604	0.520000	0.28426	0.313000	0.20887	GGG		0.652	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140222780	G	T	140222780	3	4	60	1	0	0	0	0	1	0	0	0	11530	1232	43	5	1876	5	PCDHA8	5	140222780	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1969322	140222780	40692480	31	3927											
PCDHB7	56129	broad.mit.edu	37	chr5	140554382	140554382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgcgctcggccaccGccacgctgcacgtgctcctg	4	6	11	20	6	0	0	0	0	0	0	3	0	2	0	6	1	3	4	6	1	0	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140554382G>A	ENST00000231137.3	+	1	2140	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706																																						uc003lit.3																			0		p.T655T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1966-1968)Gcc>Acc		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							28	45	39					5																	140554382		2129	4219	6348	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554382G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1966G>A	5.37:g.140554382G>A	ENSP00000231137:p.Ala656Thr					PCDHB8_uc011dai.2_5'Flank	p.A656T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2140	+			656			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1966G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342830	0.24339	.	.	ENSG00000113212	ENST00000231137	T	0.50548	0.74	3.98	3.08	0.35506	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46092	0.1375	M	0.62154	1.92	0.09310	N	1	B	0.21606	0.058	B	0.18871	0.023	T	0.46721	-0.9171	9	0.66056	D	0.02	.	12.1384	0.53984	0.0921:0.0:0.9079:0.0	.	656	Q9Y5E2	PCDB7_HUMAN	T	656	ENSP00000231137:A656T	ENSP00000231137:A656T	A	+	1	0	PCDHB7	140534566	0.000000	0.05858	0.998000	0.56505	0.244000	0.25665	0.320000	0.19540	1.922000	0.55676	0.449000	0.29647	GCC		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140554382	G	A	140554382	3	1	60	1	0	0	0	0	1	0	0	0	11547	1087	38	1	1968	1	PCDHB7	5	140554382	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	331602	140554382	40360878	32	3928											
NMUR2	56923	broad.mit.edu	37	chr5	151771915	151771915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtcaggaagatgttcCgctgggcaggtggcaactgt	8	11	14	8	1	2	1	1	0	1	1	3	2	3	2	1	4	1	4	1	4	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:151771915C>T	ENST00000255262.3	-	4	1250	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	362					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.R362Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGATGTTCCGCTGGGCAGG	0.532																																						uc003luv.2																			1	Substitution - Missense(1)	p.R362Q(2)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1084-1086)cGg>cAg		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							147	134	139					5																	151771915		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771915C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1085G>A	5.37:g.151771915C>T	ENSP00000255262:p.Arg362Gln						p.R362Q	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		3	1251	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	362					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1085G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	c	5.729	0.319037	0.10845	.	.	ENSG00000132911	ENST00000255262	T	0.70282	-0.47	4.57	-5.38	0.02673	.	1.011270	0.07935	N	0.978297	T	0.53578	0.1805	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45041	-0.9288	10	0.09590	T	0.72	-2.7318	10.2324	0.43262	0.0:0.1589:0.1174:0.7238	.	362	Q9GZQ4	NMUR2_HUMAN	Q	362	ENSP00000255262:R362Q	ENSP00000255262:R362Q	R	-	2	0	NMUR2	151752108	0.049000	0.20398	0.241000	0.24154	0.149000	0.21700	-0.532000	0.06164	-0.790000	0.04492	-1.399000	0.01144	CGG		0.532	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		T	151771915	C	T	151771915	3	4	60	1	0	0	0	0	1	0	0	0	10507	652	23	2	166	2	NMUR2	5	151771915	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	11217533	151771915	29143345	33	3929											
TRIM40	135644	broad.mit.edu	37	chr6	30114887	30114887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcacatgccagcagaagcGgccagaatccttgacatctc	12	6	10	13	1	1	3	0	1	1	2	3	4	2	3	3	1	4	2	3	1	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000376724.2_Silent_p.A189A|TRIM40_ENST00000307859.4_Silent_p.A160A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597																																						uc003npk.2																			0				ovary(1)	1						c.(565-567)gcG>gcA		Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.							76	68	71					6																	30114887		2203	4300	6503	SO:0001819	synonymous_variant	135644					intracellular	zinc ion binding	g.chr6:30114887G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.567G>A	6.37:g.30114887G>A						TRIM40_uc003npm.2_Silent_p.A160A	p.A189A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN			3	953	+			189					Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	37	c.567G>A																																																																																					0.597	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			A	30114887	G	A	30114887	2	1	60	1	0	0	0	0	0	0	0	1	16512	1103	39	2		2	TRIM40	6	30114887	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08		30114887	141000180	34	3930											
TRIM10	10107	broad.mit.edu	37	chr6	30127012	30127012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagacatttaagacacttaTggatttgttcctggggagaa	12	14	10	5	0	0	3	0	0	0	3	1	5	1	4	1	3	0	1	1	3	4	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30127012T>C	ENST00000449742.2	-	2	515	c.440A>G	c.(439-441)cAt>cGt	p.H147R	TRIM10_ENST00000376704.3_Missense_Mutation_p.H147R	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	147					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AAGACACTTATGGATTTGTTC	0.403																																						uc003npo.3																			0				ovary(1)	1						c.(439-441)cAt>cGt		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							82	87	85					6																	30127012		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30127012T>C	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.440A>G	6.37:g.30127012T>C	ENSP00000397073:p.His147Arg					TRIM10_uc003npn.2_Missense_Mutation_p.H147R	p.H147R	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			1	516	-			147					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.440A>G	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	T	0.051	-1.250247	0.01469	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	D;D	0.81908	-1.55;-1.55	5.2	2.67	0.31697	.	0.557786	0.16413	N	0.215511	T	0.47488	0.1448	N	0.19112	0.55	0.19300	N	0.999973	B;P	0.34724	0.049;0.465	B;B	0.31101	0.024;0.124	T	0.34775	-0.9815	10	0.46703	T	0.11	.	3.8805	0.09076	0.1854:0.0989:0.0:0.7157	.	147;147	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	R	147	ENSP00000397073:H147R;ENSP00000365894:H147R	ENSP00000365894:H147R	H	-	2	0	TRIM10	30234991	0.820000	0.29190	0.988000	0.46212	0.310000	0.27922	0.875000	0.28079	0.827000	0.34685	0.523000	0.50628	CAT		0.403	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			C	30127012	T	C	30127012	3	2	60	1	0	0	0	0	1	0	0	0	16483	1464	51	4	1117	4	TRIM10	6	30127012	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	12125	30127012	140988055	35	3931											
GPR115	221393	broad.mit.edu	37	chr6	47681719	47681719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagacaaaagggtttcaCatcaaccataatacctcaga	17	9	5	10	0	4	2	4	0	0	2	4	2	4	2	2	1	2	1	2	1	5	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:47681719C>A	ENST00000283303.2	+	6	996	c.738C>A	c.(736-738)caC>caA	p.H246Q	GPR115_ENST00000327753.3_Missense_Mutation_p.H246Q|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.H303Q	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	246					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGGGTTTCACATCAACCATA	0.393																																					GBM(22;431 510 9010 26644 32828)	uc003oyz.1																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(907-909)caC>caA		Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.							85	82	83					6																	47681719		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681719C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.738C>A	6.37:g.47681719C>A	ENSP00000283303:p.His246Gln					GPR115_uc003oza.1_Missense_Mutation_p.H246Q|GPR115_uc003ozb.1_Missense_Mutation_p.H246Q|RN7SK_uc021zaf.1_5'Flank	p.H303Q	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	909	+			246					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.909C>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	0.921	-0.715903	0.03206	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.32988	1.66;1.43;1.43	5.19	-0.121	0.13535	.	0.991144	0.08218	N	0.979579	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B	0.20164	0.042	B	0.21546	0.035	T	0.40308	-0.9570	10	0.15066	T	0.55	-0.2592	2.0729	0.03618	0.208:0.4135:0.2234:0.1552	.	246	Q8IZF3	GP115_HUMAN	Q	303;246;246	ENSP00000360264:H303Q;ENSP00000328319:H246Q;ENSP00000283303:H246Q	ENSP00000283303:H246Q	H	+	3	2	GPR115	47789678	0.033000	0.19621	0.242000	0.24170	0.290000	0.27261	-0.095000	0.11077	0.268000	0.21939	-0.165000	0.13383	CAC		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		A	47681719	C	A	47681719	3	1	60	1	0	0	0	0	1	0	0	0	6632	477	17	5	756	5	GPR115	6	47681719	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	17554707	47681719	123433348	36	3932											
DOPEY1	23033	broad.mit.edu	37	chr6	83830474	83830474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggatctaaagccttttCgcattttaatcagtttactg	10	16	7	8	1	2	0	1	0	1	0	3	1	2	1	1	1	3	3	1	1	4	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:83830474C>T	ENST00000349129.2	+	10	1323	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R346C|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R346C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	355					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGCCTTTTCGCATTTTAAT	0.368																																						uc011dyy.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(1036-1038)Cgc>Tgc		Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.							134	126	128					6																	83830474		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83830474C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1063C>T	6.37:g.83830474C>T	ENSP00000195654:p.Arg355Cys					DOPEY1_uc003pjs.1_Missense_Mutation_p.R355C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	p.R346C	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	9	1296	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	355					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1036C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196724	0.94960	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.50001	0.77;0.8;0.76	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.995	T	0.71632	-0.4534	10	0.87932	D	0	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	252;346;355	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	C	355;346;346	ENSP00000195654:R355C;ENSP00000237163:R346C;ENSP00000358754:R346C	ENSP00000237163:R346C	R	+	1	0	DOPEY1	83887193	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.625000	0.83145	2.707000	0.92482	0.557000	0.71058	CGC		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		T	83830474	C	T	83830474	3	4	60	1	0	0	0	0	1	0	0	0	4707	884	31	2	1093	2	DOPEY1	6	83830474	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	36148755	83830474	87284593	37	3933											
AIM1	202	broad.mit.edu	37	chr6	106978130	106978130	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctactttgatgatactgAagaaatgcagggatttggtg	11	14	11	5	0	0	4	0	3	0	1	1	5	1	5	1	2	3	1	1	2	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:106978130A>C	ENST00000369066.3	+	6	3921	c.3434A>C	c.(3433-3435)gAa>gCa	p.E1145A		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATGATACTGAAGAAATGCAG	0.328																																						uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3433-3435)gAa>gCa		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							167	158	161					6																	106978130		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106978130A>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3434A>C	6.37:g.106978130A>C	ENSP00000358062:p.Glu1145Ala						p.E1145A	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	4346	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1145			Beta/gamma crystallin 'Greek key' 3.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3434A>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087682	0.76642	.	.	ENSG00000112297	ENST00000369066	T	0.75589	-0.95	5.21	5.21	0.72293	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.254525	0.44285	D	0.000470	T	0.67841	0.2936	L	0.54323	1.7	0.80722	D	1	P	0.36647	0.563	B	0.44224	0.444	T	0.71839	-0.4471	10	0.48119	T	0.1	.	15.0819	0.72122	1.0:0.0:0.0:0.0	.	1145	Q9Y4K1	AIM1_HUMAN	A	1145	ENSP00000358062:E1145A	ENSP00000358062:E1145A	E	+	2	0	AIM1	107084823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.933000	0.63484	1.964000	0.57103	0.460000	0.39030	GAA		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			C	106978130	A	C	106978130	3	2	60	1	0	0	0	0	1	0	0	0	430	246	9	5	3456	5	AIM1	6	106978130	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	23147656	106978130	64136937	38	3934											
ELMO1	9844	broad.mit.edu	37	chr7	37253052	37253052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgatggcccgctgggctCggatgacatgctagggagat	7	10	16	8	2	0	3	0	2	0	1	1	5	0	4	1	4	1	4	1	4	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37253052C>T	ENST00000310758.4	-	12	1489	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.R281Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R281Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	281					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCGCTGGGCTCGGATGACATG	0.433																																						uc022abv.1																			0		p.I280I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(841-843)cGa>cAa		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							71	58	62					7																	37253052		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37253052C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.842G>A	7.37:g.37253052C>T	ENSP00000312185:p.Arg281Gln					ELMO1_uc011kbc.2_Missense_Mutation_p.R185Q|ELMO1_uc003tfk.2_Missense_Mutation_p.R281Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R281Q	p.R281Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			11	1552	-			281					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.842G>A	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.81|17.81	3.480828|3.480828	0.63849|0.63849	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|T;T;T;T	.|0.31769	.|2.41;2.41;2.41;1.48	5.2|5.2	4.3|4.3	0.51218|0.51218	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22551|0.22551	0.0544|0.0544	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P	.|0.47191	.|0.891	.|B	.|0.37508	.|0.252	T|T	0.02728|0.02728	-1.1118|-1.1118	5|10	.|0.26408	.|T	.|0.33	.|.	15.7114|15.7114	0.77631|0.77631	0.1382:0.8618:0.0:0.0|0.1382:0.8618:0.0:0.0	.|.	.|281	.|Q92556	.|ELMO1_HUMAN	K|Q	61|281;185;281;281;22	.|ENSP00000312185:R281Q;ENSP00000406952:R281Q;ENSP00000394458:R281Q;ENSP00000395933:R22Q	.|ENSP00000312185:R281Q	E|R	-|-	1|2	0|0	ELMO1|ELMO1	37219577|37219577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.556000|7.556000	0.82233|0.82233	1.470000|1.470000	0.48102|0.48102	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.433	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	37253052	C	T	37253052	3	4	60	1	0	0	0	0	1	0	0	0	5065	884	31	2	1385	2	ELMO1	7	37253052	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08		37253052	121885611	39	3935											
ELMO1	9844	broad.mit.edu	37	chr7	37298915	37298915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcttggcatccatactcGaggactggattcgttcatgg	8	11	11	11	2	1	0	1	0	0	0	4	3	2	2	2	4	2	3	2	4	1	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37298915G>A	ENST00000310758.4	-	6	931	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ELMO1_ENST00000448602.1_Missense_Mutation_p.S95L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S95L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	95					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCCATACTCGAGGACTGGAT	0.522																																						uc022abv.1																			0		p.S95S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(283-285)tCg>tTg		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							79	71	74					7																	37298915		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37298915G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.284C>T	7.37:g.37298915G>A	ENSP00000312185:p.Ser95Leu					ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.S95L|ELMO1_uc010kxg.2_Missense_Mutation_p.S95L	p.S95L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			5	994	-			95					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.284C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190540	0.78789	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.58101	1.795	0.80722	D	1	B	0.24092	0.097	B	0.20577	0.03	T	0.48790	-0.9004	10	0.40728	T	0.16	.	19.5605	0.95369	0.0:0.0:1.0:0.0	.	95	Q92556	ELMO1_HUMAN	L	95	ENSP00000312185:S95L;ENSP00000406952:S95L;ENSP00000394458:S95L;ENSP00000406610:S95L;ENSP00000416090:S95L	ENSP00000312185:S95L	S	-	2	0	ELMO1	37265440	1.000000	0.71417	0.373000	0.26003	0.985000	0.73830	6.663000	0.74431	2.713000	0.92767	0.591000	0.81541	TCG		0.522	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		A	37298915	G	A	37298915	3	1	60	1	0	0	0	0	1	0	0	0	5065	1059	37	2	1967	2	ELMO1	7	37298915	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	45863	37298915	121839748	40	3936											
WBSCR17	64409	broad.mit.edu	37	chr7	70881029	70881029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcttctttgatgcccaCgtggaattcaccgctggctg	6	12	11	12	2	2	1	1	1	1	0	2	2	2	2	2	3	1	3	2	3	1	3	rs566090840		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:70881029C>T	ENST00000333538.5	+	4	1378	c.744C>T	c.(742-744)caC>caT	p.H248H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	248	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGATGCCCACGTGGAATTCA	0.567													C|||	1	0.000199681	0	0	5008	,	,		16174	0		0	False		,,,				2504	0.001					uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(742-744)caC>caT		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							69	58	62					7																	70881029		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70881029C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.744C>T	7.37:g.70881029C>T						WBSCR17_uc003tvz.3_5'UTR	p.H248H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	744	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	248			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.744C>T	CCDS5540.1																																																																																				0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		T	70881029	C	T	70881029	2	4	60	1	0	0	0	0	0	0	0	1	17261	535	19	1		1	WBSCR17	7	70881029	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	33582114	70881029	88257634	41	3937											
NSUN5	55695	broad.mit.edu	37	chr7	72721634	72721634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcattccggctcacaccccGatgaaccttgagccgagcca	9	7	8	17	3	2	2	2	2	0	0	3	4	3	2	6	1	3	1	6	1	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:72721634G>A	ENST00000252594.6	-	3	352	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	NSUN5_ENST00000310326.8_Missense_Mutation_p.R113W|NSUN5_ENST00000438747.2_Missense_Mutation_p.R113W|NSUN5_ENST00000428206.1_Missense_Mutation_p.R75W			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	113					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCACACCCCGATGAACCTTG	0.637																																						uc003txw.3																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(337-339)Cgg>Tgg		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.							60	50	54					7																	72721634		2203	4300	6503	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721634G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.337C>T	7.37:g.72721634G>A	ENSP00000252594:p.Arg113Trp					FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R113W|NSUN5_uc003txv.3_Missense_Mutation_p.R113W|NSUN5_uc003txx.3_Missense_Mutation_p.R75W	p.R113W	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			2	414	-		Lung NSC(55;0.163)	113					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.337C>T	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642068	0.67244	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.16196	2.42;2.36;2.56;2.56	4.18	4.18	0.49190	.	0.201470	0.42548	D	0.000690	T	0.40522	0.1120	M	0.86343	2.81	0.32942	D	0.518594	D;D;D;D	0.76494	0.998;0.999;0.994;0.999	P;P;P;P	0.61397	0.836;0.857;0.724;0.888	T	0.58070	-0.7701	10	0.44086	T	0.13	.	11.0497	0.47880	0.0:0.0:0.8145:0.1855	.	113;75;113;113	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	W	75;113;113;113	ENSP00000393081:R75W;ENSP00000252594:R113W;ENSP00000388464:R113W;ENSP00000309126:R113W	ENSP00000252594:R113W	R	-	1	2	NSUN5	72359570	0.056000	0.20664	0.720000	0.30636	0.994000	0.84299	1.334000	0.33827	2.165000	0.68154	0.485000	0.47835	CGG		0.637	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		A	72721634	G	A	72721634	3	1	60	1	0	0	0	0	1	0	0	0	10681	1057	37	2	1116	2	NSUN5	7	72721634	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1840605	72721634	86417029	42	3938											
SAMD9	54809	broad.mit.edu	37	chr7	92734204	92734204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattatctaacaaatCttgatttcctgtcaataatt	14	17	4	6	0	3	2	1	2	2	0	4	2	4	2	1	0	1	1	1	0	7	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:92734204C>A	ENST00000379958.2	-	3	1476	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	403						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAACAAATCTTGATTTCCT	0.323																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1207-1209)Gat>Tat		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							55	59	57					7																	92734204		2201	4298	6499	SO:0001583	missense	54809					cytoplasm		g.chr7:92734204C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1207G>T	7.37:g.92734204C>A	ENSP00000369292:p.Asp403Tyr					SAMD9_uc003umg.3_Missense_Mutation_p.D403Y|SAMD9_uc022ahg.1_Missense_Mutation_p.D403Y	p.D403Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	1477	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		403					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1207G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	8.284	0.816160	0.16607	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13657	2.57;2.57	4.24	4.24	0.50183	.	0.381500	0.21628	U	0.071521	T	0.30823	0.0777	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	P	0.61328	0.887	T	0.03403	-1.1040	10	0.66056	D	0.02	-11.4454	15.6845	0.77400	0.0:1.0:0.0:0.0	.	403	Q5K651	SAMD9_HUMAN	Y	403	ENSP00000369292:D403Y;ENSP00000414529:D403Y	ENSP00000369292:D403Y	D	-	1	0	SAMD9	92572140	0.000000	0.05858	0.050000	0.19076	0.364000	0.29643	0.598000	0.24074	2.350000	0.79820	0.603000	0.83216	GAT		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92734204	C	A	92734204	3	1	60	1	0	0	0	0	1	0	0	0	13826	913	32	5	3566	5	SAMD9	7	92734204	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	20012570	92734204	66404459	43	3939											
PON1	5444	broad.mit.edu	37	chr7	94931534	94931534	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgatgcaggaggatTctctgagtcatagaagaaga	13	10	11	7	0	3	5	1	2	2	3	4	7	3	7	1	2	2	1	1	2	4	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:94931534T>A	ENST00000222381.3	-	8	1123	c.892A>T	c.(892-894)Aat>Tat	p.N298Y	PON1_ENST00000542556.1_Missense_Mutation_p.N298Y	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	298					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GCAGGAGGATTCTCTGAGTCA	0.398																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(892-894)Aat>Tat		Homo sapiens paraoxonase 1 (PON1), mRNA.	Atorvastatin(DB01076)|Cefazolin(DB01327)						77	78	77					7																	94931534		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94931534T>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.892A>T	7.37:g.94931534T>A	ENSP00000222381:p.Asn298Tyr					PON1_uc011kih.2_Missense_Mutation_p.N298Y	p.N298Y	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	989	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		298					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.892A>T	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975669	0.34848	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.46451	0.87;0.87	4.67	2.25	0.28309	Six-bladed beta-propeller, TolB-like (1);	0.098059	0.64402	D	0.000001	T	0.32102	0.0818	L	0.56769	1.78	0.45704	D	0.998616	P;P	0.47677	0.899;0.61	B;B	0.38106	0.265;0.096	T	0.07404	-1.0774	10	0.49607	T	0.09	-11.7386	5.6634	0.17682	0.0:0.1485:0.1446:0.707	.	298;298	F5H4W9;P27169	.;PON1_HUMAN	Y	298	ENSP00000222381:N298Y;ENSP00000444854:N298Y	ENSP00000222381:N298Y	N	-	1	0	PON1	94769470	0.997000	0.39634	0.944000	0.38274	0.731000	0.41821	1.367000	0.34204	0.503000	0.28060	0.528000	0.53228	AAT		0.398	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		A	94931534	T	A	94931534	3	1	60	1	0	0	0	0	1	0	0	0	12248	1783	62	5	183	5	PON1	7	94931534	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	2197330	94931534	64207129	44	3940											
MUC17	140453	broad.mit.edu	37	chr7	100675948	100675948	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacttcaacaattccTgttgactccaaaacttttgt	12	13	4	12	0	1	1	1	1	0	0	3	1	3	1	3	0	3	2	3	0	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:100675948T>C	ENST00000306151.4	+	3	1315	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	417	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACAATTCCTGTTGACTCCA	0.458																																						uc003uxp.1																			0		p.I416N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1249-1251)ccT>ccC		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							190	198	195					7																	100675948		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675948T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1251T>C	7.37:g.100675948T>C						MUC17_uc010lho.1_Non-coding_Transcript	p.P417P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	1304	+	Lung NSC(181;0.136)|all_lung(186;0.182)		417			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.1251T>C	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100675948	T	C	100675948	2	2	60	1	0	0	0	0	0	0	0	1	9974	1567	55	4		4	MUC17	7	100675948	Silent	SNP	T	TCGA-06-0744-01A-01W-0348-08	5744414	100675948	58462715	45	3941											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884194	143884194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaatctgagtcacgAgatatgaggcacctggaaac	12	7	12	10	2	2	3	1	2	1	1	3	6	3	5	2	3	1	1	2	3	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:143884194A>T	ENST00000378115.2	-	2	1412	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.L428H	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	428										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGAGTCACGAGATATGAGGC	0.572																																						uc003wdz.2																			0				kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						c.(1282-1284)cTc>cAc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.							11	12	11					7																	143884194		2100	4048	6148	SO:0001583	missense	445328							g.chr7:143884194A>T	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"Rho guanine nucleotide exchange factors"	33846	protein-coding gene	gene with protein product			"Rho guanine nucleotide exchange factor (GEF) 5-like"	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1283T>A	7.37:g.143884194A>T	ENSP00000367355:p.Leu428His					ARHGEF35_uc022aog.1_Missense_Mutation_p.L428H	p.L428H	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			1	1456	-			428					Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.1283T>A	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	10.20	1.284191	0.23392	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.34	1.42	0.22433	.	.	.	.	.	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	P	0.50272	0.933	B	0.37550	0.253	T	0.13926	-1.0491	8	0.59425	D	0.04	.	4.7616	0.13111	0.1978:0.0:0.8022:0.0	.	428	A5YM69	ARG35_HUMAN	H	428	.	ENSP00000367355:L428H	L	-	2	0	ARHGEF35	143515127	0.002000	0.14202	0.002000	0.10522	0.336000	0.28762	0.485000	0.22324	0.313000	0.23062	0.155000	0.16302	CTC		0.572	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		T	143884194	A	T	143884194	3	4	60	1	0	0	0	0	1	0	0	0	905	304	11	5	175	5	ARHGEF35	7	143884194	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	43208246	143884194	15254469	46	3942											
GALNT11	63917	broad.mit.edu	37	chr7	151805176	151805176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaatgtgatgtggctgCagcccttgctggccgccatc	7	10	13	11	1	0	2	0	2	0	0	1	2	0	2	3	2	3	3	3	2	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:151805176C>G	ENST00000434507.1	+	8	1203	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000452146.2_Missense_Mutation_p.Q175E|GALNT11_ENST00000320311.2_Missense_Mutation_p.Q256E|GALNT11_ENST00000430044.2_Missense_Mutation_p.Q256E			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	256	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGTGGCTGCAGCCCTTGCT	0.582																																						uc010lqg.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(766-768)Cag>Gag		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.							65	56	59					7																	151805176		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151805176C>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.766C>G	7.37:g.151805176C>G	ENSP00000416787:p.Gln256Glu					GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_Non-coding_Transcript|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	p.Q256E	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	5	996	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	256			Catalytic subdomain A.		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.766C>G	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731765	0.15507	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.058581	0.64402	D	0.000001	T	0.22627	0.0546	N	0.01297	-0.9	0.80722	D	1	B;B;B	0.16396	0.003;0.017;0.008	B;B;B	0.21708	0.005;0.036;0.035	T	0.29579	-1.0007	10	0.02654	T	1	.	14.5117	0.67791	0.0:0.8535:0.1465:0.0	.	175;256;256	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	E	256;175;256;256;256	ENSP00000395122:Q256E;ENSP00000393399:Q175E;ENSP00000416787:Q256E;ENSP00000315835:Q256E	ENSP00000315835:Q256E	Q	+	1	0	GALNT11	151436109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.848000	0.62874	2.445000	0.82738	0.650000	0.86243	CAG		0.582	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		G	151805176	C	G	151805176	3	3	60	1	0	0	0	0	1	0	0	0	6209	711	25	5	784	5	GALNT11	7	151805176	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7920982	151805176	7333487	47	3943											
DOCK5	80005	broad.mit.edu	37	chr8	25167952	25167952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccttgaagctcttgcccGgtgacctcacccaggttcag	7	11	9	14	1	3	2	2	2	1	0	4	2	4	2	4	2	2	2	4	2	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:25167952G>A	ENST00000276440.7	+	13	1266	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	408					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCTTGCCCGGTGACCTCAC	0.408																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1222-1224)Ggt>Agt		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							88	89	88					8																	25167952		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25167952G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1222G>A	8.37:g.25167952G>A	ENSP00000276440:p.Gly408Ser					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.3_5'UTR	p.G408S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1359	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	408					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1222G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.650225|5.650225	0.96714|0.96714	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.16743|.	2.32|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85936|0.85936	0.5813|0.5813	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.86786|0.86786	0.1982|0.1982	10|5	0.87932|.	D|.	0|.	.|.	20.2585|20.2585	0.98435|0.98435	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	183;408|.	Q68DL4;Q9H7D0|.	.;DOCK5_HUMAN|.	S|Q	408|179	ENSP00000276440:G408S|.	ENSP00000276440:G408S|.	G|R	+|+	1|2	0|0	DOCK5|DOCK5	25223869|25223869	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.776000|0.776000	0.43924|0.43924	9.840000|9.840000	0.99478|0.99478	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25167952	G	A	25167952	3	1	60	1	0	0	0	0	1	0	0	0	4690	1116	39	2	1272	2	DOCK5	8	25167952	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		25167952	121196070	48	3944											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730005	37730005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgggaagagggggcGccacttcttcagctgcatcc	7	8	12	14	1	2	1	1	0	1	1	4	2	4	2	3	3	2	2	3	3	1	2	rs371085767		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:37730005G>A	ENST00000330843.4	-	4	2327	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	772					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGAGGGGGCGCCACTTCTTC	0.567																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(2314-2316)gCg>gTg		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	83	86	85		,2315	-5.8	0	8		85	0,8600		0,0,4300	no	intron,missense	RAB11FIP1	NM_025151.4,NM_001002814.2	,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,772/1284	37730005	1,13005	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730005G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2315C>T	8.37:g.37730005G>A	ENSP00000331342:p.Ala772Val					RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	p.A772V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	2371	-		Lung NSC(58;0.118)|all_lung(54;0.195)	772					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2315C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431757	0.25813	2.27E-4	0.0	ENSG00000156675	ENST00000330843	T	0.12984	2.63	4.93	-5.85	0.02311	.	0.488757	0.16793	N	0.199284	T	0.05640	0.0148	N	0.17082	0.46	0.09310	N	0.999998	B;B	0.18013	0.025;0.002	B;B	0.12837	0.008;0.001	T	0.26292	-1.0107	10	0.30078	T	0.28	-0.4117	6.6225	0.22810	0.616:0.0:0.2266:0.1574	.	101;772	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	V	772	ENSP00000331342:A772V	ENSP00000331342:A772V	A	-	2	0	RAB11FIP1	37849163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.650000	0.00858	-0.903000	0.03881	-0.794000	0.03295	GCG		0.567	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		A	37730005	G	A	37730005	3	1	60	1	0	0	0	0	1	0	0	0	12893	1087	38	1	1548	1	RAB11FIP1	8	37730005	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	12562053	37730005	108634017	49	3945											
PGCP	10404	broad.mit.edu	37	chr8	97797551	97797551	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcattgggactccTccagaaggtattgtttgtct	8	12	12	9	0	1	1	0	0	1	1	3	2	3	2	2	3	2	5	2	3	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:97797551T>A	ENST00000220763.5	+	2	636	c.426T>A	c.(424-426)ccT>ccA	p.P142P		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	142					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TTGGGACTCCTCCAGAAGGTA	0.398																																						uc003yhw.3																			0											c.(424-426)ccT>ccA		Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.							57	62	60					8																	97797551		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97797551T>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.426T>A	8.37:g.97797551T>A						CPQ_uc010mbe.2_Silent_p.P142P	p.P142P	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			1	592	+			142					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.426T>A	CCDS6273.1																																																																																				0.398	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		A	97797551	T	A	97797551	2	1	60	1	0	0	0	0	0	0	0	1	11786	1538	54	5		5	PGCP	8	97797551	Silent	SNP	T	TCGA-06-0744-01A-01W-0348-08	60067546	97797551	48566471	50	3946											
RIMS2	9699	broad.mit.edu	37	chr8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattataatacaattagcCgaatggacagacatcgtgtc	15	10	8	8	2	0	1	0	0	0	1	2	4	0	2	1	1	2	0	1	1	6	4	rs201715496		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:105001597C>T	ENST00000436393.2	+	15	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R998*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R837*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R790*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1060					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)																												uc003yls.3																			0		p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2326-2328)Cga>Tga		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							122	120	121					8																	105001597		1870	4094	5964	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001597C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2326C>T	8.37:g.105001597C>T	ENSP00000390665:p.Arg776*	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	p.R776*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2567	+			1060					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2326C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.178250	0.98691	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.2307	0.59941	0.2845:0.7155:0.0:0.0	.	.	.	.	X	998;1013;998;1060;837;790;790;776	.	ENSP00000262231:R837X	R	+	1	2	RIMS2	105070773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.921000	0.40035	2.617000	0.88574	0.484000	0.47621	CGA		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	105001597	C	T	105001597	4	4	60	1	0	0	0	0	0	1	0	0	13368	644	23	2	3184	2	RIMS2	8	105001597	Nonsense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7204046	105001597	41362425	51	3947											
ENPP2	5168	broad.mit.edu	37	chr8	120569920	120569920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacccattttgattcGtcctctgagctctgcaatgg	6	16	7	12	1	4	2	0	2	4	0	6	2	5	2	2	1	3	2	2	1	2	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:120569920G>A	ENST00000075322.6	-	25	2491	c.2433C>T	c.(2431-2433)gaC>gaT	p.D811D	ENPP2_ENST00000522826.1_Silent_p.D836D|ENPP2_ENST00000259486.6_Silent_p.D863D|ENPP2_ENST00000522167.1_Silent_p.D446D|ENPP2_ENST00000427067.2_Silent_p.D832D	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	811					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTTGATTCGTCCTCTGAGC	0.453																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0		p.E862K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2587-2589)gaC>gaT		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							158	144	149					8																	120569920		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569920G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2433C>T	8.37:g.120569920G>A						ENPP2_uc011lic.2_Silent_p.D349D|ENPP2_uc003yor.2_Silent_p.D446D|ENPP2_uc010mdd.2_Silent_p.D836D|ENPP2_uc003yot.2_Silent_p.D811D	p.D863D	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2675	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		811					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2589C>T	CCDS34936.1																																																																																				0.453	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120569920	G	A	120569920	2	1	60	1	0	0	0	0	0	0	0	1	5130	1136	40	1		1	ENPP2	8	120569920	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	15568323	120569920	25794102	52	3948											
GLI4	2738	broad.mit.edu	37	chr8	144358513	144358513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcgcttccgcggctggTcgggcttcatccagcaccac	6	7	12	16	4	1	0	1	0	0	0	4	0	3	0	3	3	2	5	3	3	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144358513T>G	ENST00000523522.1	+	3	709	c.670T>G	c.(670-672)Tcg>Gcg	p.S224A	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.S224A			P10075	GLI4_HUMAN	GLI family zinc finger 4	224					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCGCGGCTGGTCGGGCTTCAT	0.652																																						uc003yxx.3																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(670-672)Tcg>Gcg		Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.							21	23	22					8																	144358513		2199	4293	6492	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358513T>G		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.670T>G	8.37:g.144358513T>G	ENSP00000430987:p.Ser224Ala					ZFP41_uc003yxv.3_Non-coding_Transcript	p.S224A	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	755	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		224					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.670T>G	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	T	7.305	0.613807	0.14066	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.17691	2.26;2.26	3.97	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11750	0.0286	N	0.25286	0.73	0.09310	N	1	P	0.45348	0.856	B	0.42462	0.388	T	0.15780	-1.0425	9	0.29301	T	0.29	.	7.8278	0.29326	0.1861:0.0:0.0:0.8139	.	224	P10075	GLI4_HUMAN	A	224	ENSP00000345024:S224A;ENSP00000430987:S224A	ENSP00000345024:S224A	S	+	1	0	GLI4	144429888	0.000000	0.05858	0.981000	0.43875	0.001000	0.01503	-0.416000	0.07097	0.557000	0.29117	-0.502000	0.04539	TCG		0.652	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			G	144358513	T	G	144358513	3	3	60	1	0	0	0	0	1	0	0	0	6440	1667	58	5	680	5	GLI4	8	144358513	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	23788593	144358513	2005509	53	3949											
EPPK1	83481	broad.mit.edu	37	chr8	144940380	144940380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcacggggtcgatgaCgccgcccgtggcgatctggg	4	7	18	12	6	1	1	0	1	1	0	2	3	1	1	2	4	1	2	2	4	0	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144940380C>T	ENST00000525985.1	-	2	7113	c.7042G>A	c.(7042-7044)Gtc>Atc	p.V2348I				P58107	EPIPL_HUMAN	epiplakin 1	2348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGCCGCCCGTG	0.697																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7042-7044)Gtc>Atc		Homo sapiens epiplakin 1 (EPPK1), mRNA.							192	186	188					8																	144940380		2173	4238	6411	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940380C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7042G>A	8.37:g.144940380C>T	ENSP00000436337:p.Val2348Ile						p.V2348I	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	7055	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2348					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7042G>A		.	.	.	.	.	.	.	.	.	.	C	7.468	0.646021	0.14451	.	.	ENSG00000227184	ENST00000525985	T	0.63580	-0.05	4.39	-1.99	0.07457	.	.	.	.	.	T	0.24736	0.0600	N	0.01128	-1	0.23016	N	0.998428	B	0.28605	0.217	B	0.26517	0.07	T	0.29822	-0.9999	9	0.06625	T	0.88	.	9.8885	0.41276	0.0:0.3131:0.0:0.6869	.	2348	E9PPU0	.	I	2348	ENSP00000436337:V2348I	ENSP00000436337:V2348I	V	-	1	0	EPPK1	145012368	0.480000	0.25933	0.988000	0.46212	0.996000	0.88848	-0.095000	0.11077	-0.288000	0.09051	0.586000	0.80456	GTC		0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940380	C	T	144940380	3	4	60	1	0	0	0	0	1	0	0	0	5190	536	19	1	224	1	EPPK1	8	144940380	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	581867	144940380	1423642	54	3950											
TAF1L	138474	broad.mit.edu	37	chr9	32630560	32630560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagacgtactgagggatGtgttggtatcatacatatca	11	12	11	7	2	2	2	2	1	0	1	3	4	2	3	0	2	2	3	0	2	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:32630560G>C	ENST00000242310.4	-	1	5107	c.5018C>G	c.(5017-5019)aCa>aGa	p.T1673R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1673					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTGAGGGATGTGTTGGTATC	0.473																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(5017-5019)aCa>aGa		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							218	203	208					9																	32630560		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630560G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5018C>G	9.37:g.32630560G>C	ENSP00000418379:p.Thr1673Arg					AX747113_uc003zrh.1_5'Flank	p.T1673R	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	5108	-			1673					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5018C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	7.644	0.681524	0.14907	.	.	ENSG00000122728	ENST00000242310	T	0.08370	3.1	0.479	0.479	0.16796	.	0.153130	0.64402	D	0.000015	T	0.06600	0.0169	L	0.50333	1.59	0.29948	N	0.820486	B	0.29232	0.238	B	0.27380	0.079	T	0.26121	-1.0112	10	0.18276	T	0.48	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1673	Q8IZX4	TAF1L_HUMAN	R	1673	ENSP00000418379:T1673R	ENSP00000418379:T1673R	T	-	2	0	TAF1L	32620560	1.000000	0.71417	0.857000	0.33713	0.070000	0.16714	1.722000	0.38042	0.507000	0.28148	0.195000	0.17529	ACA		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			C	32630560	G	C	32630560	3	2	60	1	0	0	0	0	1	0	0	0	15520	1377	48	5	466	5	TAF1L	9	32630560	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		32630560	108582871	55	3951											
FAM75C1	441452	broad.mit.edu	37	chr9	90536517	90536517	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttgaggagtgactcAggaagtgatttattaagacg	13	10	12	6	1	1	4	1	3	0	1	1	6	1	6	1	2	1	0	1	2	4	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:90536517A>G	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGTGACTCAGGAAGTGATT	0.507																																						uc010mqi.3																			0											c.(1693-1695)tcA>tcG		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							9	12	11					9																	90536517		692	1590	2282			441452							g.chr9:90536517A>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536517A>G						FAM75C1_uc004apq.4_Silent_p.S548S	p.S565S	NM_001145124	NP_001138596					3	1724	+									Silent	SNP	ENST00000602681.1	37	c.1695A>G																																																																																					0.507	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		G	90536517	A	G	90536517	1	3	60	0	1	0	0	0	0	0	0	0	5623	175	7	4		4	FAM75C1	9	90536517	RNA	SNP	A	TCGA-06-0744-01A-01W-0348-08	57905957	90536517	50676914	56	3952											
C9orf156	51531	broad.mit.edu	37	chr9	100672419	100672419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcttccttgcaagaCtgctgctccttccactcttt	4	15	6	16	0	1	1	0	0	1	1	4	1	4	1	4	0	5	4	4	0	1	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:100672419C>A	ENST00000375119.3	-	4	965	c.889G>T	c.(889-891)Gtc>Ttc	p.V297F	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	297					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAAGACTGCTGCTCCT	0.562																																						uc004axv.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(889-891)Gtc>Ttc		Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.							127	108	114					9																	100672419		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100672419C>A	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.889G>T	9.37:g.100672419C>A	ENSP00000364260:p.Val297Phe					C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	p.V297F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			3	966	-		Acute lymphoblastic leukemia(62;0.158)	297					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.889G>T	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	8.513	0.866928	0.17250	.	.	ENSG00000136932	ENST00000375119;ENST00000375118	T;T	0.37752	1.62;1.18	5.03	-0.797	0.10909	Uncharacterised domain UPF0066, YaeB-like domain (1);	0.881445	0.10129	N	0.712344	T	0.26738	0.0654	L	0.46157	1.445	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.001	T	0.26430	-1.0103	10	0.33141	T	0.24	0.1041	4.8039	0.13310	0.1401:0.4196:0.0:0.4403	.	151;297	Q5T114;Q9BU70	.;NAP1_HUMAN	F	297;151	ENSP00000364260:V297F;ENSP00000364259:V151F	ENSP00000364259:V151F	V	-	1	0	C9orf156	99712240	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.094000	0.11094	-0.352000	0.08237	0.563000	0.77884	GTC		0.562	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		A	100672419	C	A	100672419	3	1	60	1	0	0	0	0	1	0	0	0	2465	565	20	5	444	5	C9orf156	9	100672419	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	10135902	100672419	40541012	57	3953											
ANKS6	203286	broad.mit.edu	37	chr9	101530447	101530447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggccccacagggcttgaCcgatggctgggtttctgctc	4	10	14	13	1	1	1	0	1	1	0	2	2	1	1	3	4	1	5	3	4	0	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:101530447C>T	ENST00000353234.4	-	11	2105	c.2058G>A	c.(2056-2058)cgG>cgA	p.R686R	ANKS6_ENST00000375019.2_Silent_p.R385R|ANKS6_ENST00000375018.1_Silent_p.R686R|ANKS6_ENST00000540940.1_Silent_p.R491R			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	686	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGCTTGACCGATGGCTGG	0.577																																						uc004ayu.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2056-2058)cgG>cgA		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							41	48	46					9																	101530447		2054	4195	6249	SO:0001819	synonymous_variant	203286							g.chr9:101530447C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2058G>A	9.37:g.101530447C>T						ANKS6_uc004ayv.2_Silent_p.R148R|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.R385R	p.R686R	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			10	2079	-		Acute lymphoblastic leukemia(62;0.0527)	686			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.2058G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	9.717	1.158608	0.21454	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.88	4.06	0.47325	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55049	-0.8201	4	.	.	.	-10.3179	9.2561	0.37584	0.0:0.8348:0.0:0.1652	.	.	.	.	I	155	.	.	V	-	1	0	ANKS6	100570268	0.922000	0.31269	0.977000	0.42913	0.740000	0.42216	1.040000	0.30278	0.839000	0.34971	0.561000	0.74099	GTC		0.577	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		T	101530447	C	T	101530447	2	4	60	1	0	0	0	0	0	0	0	1	692	494	18	3		3	ANKS6	9	101530447	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	858028	101530447	39682984	58	3954											
GRIN3A	116443	broad.mit.edu	37	chr9	104499635	104499635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggactaagctgaccaagtcGagctccatcatttcgccctg	10	9	9	13	2	1	1	1	1	0	0	4	3	2	2	3	1	2	2	3	1	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:104499635G>A	ENST00000361820.3	-	1	1227	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	209					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGACCAAGTCGAGCTCCATCA	0.597																																						uc004bbp.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(625-627)ctC>ctT		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						80	74	76					9																	104499635		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499635G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.627C>T	9.37:g.104499635G>A						GRIN3A_uc004bbq.1_Silent_p.L209L	p.L209L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			0	1228	-		Acute lymphoblastic leukemia(62;0.0568)	209					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.627C>T	CCDS6758.1																																																																																				0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104499635	G	A	104499635	2	1	60	1	0	0	0	0	0	0	0	1	6783	1045	37	2		2	GRIN3A	9	104499635	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	2969188	104499635	36713796	59	3955											
OR13C5	138799	broad.mit.edu	37	chr9	107361108	107361108	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacaagcaggatgaacTcattgcctgagatgtcagca	12	9	11	9	0	3	2	3	2	0	1	3	4	3	3	1	2	4	2	1	2	2	1	rs377175875		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:107361108T>A	ENST00000374779.2	-	1	680	c.587A>T	c.(586-588)gAg>gTg	p.E196V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGATGAACTCATTGCCTGA	0.383																																						uc011lvp.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(586-588)gAg>gTg		Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.							191	175	180					9																	107361108		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361108T>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.587A>T	9.37:g.107361108T>A	ENSP00000363911:p.Glu196Val						p.E196V	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			0	587	-			196					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.587A>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	T	3.109	-0.183114	0.06340	.	.	ENSG00000255800	ENST00000374779	T	0.00258	8.41	4.17	0.00661	0.14068	GPCR, rhodopsin-like superfamily (1);	0.218004	0.22532	U	0.058828	T	0.00109	0.0003	L	0.37697	1.125	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.30416	-0.9979	10	0.31617	T	0.26	.	4.0282	0.09697	0.392:0.1036:0.0:0.5044	.	196	Q8NGS8	O13C5_HUMAN	V	196	ENSP00000363911:E196V	ENSP00000363911:E196V	E	-	2	0	OR13C5	106400929	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	0.191000	0.17076	0.168000	0.19655	0.433000	0.28618	GAG		0.383	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107361108	T	A	107361108	3	1	60	1	0	0	0	0	1	0	0	0	10937	1551	54	5	371	5	OR13C5	9	107361108	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	2861473	107361108	33852323	60	3956											
KCNT1	57582	broad.mit.edu	37	chr9	138671275	138671275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcatgcagttccgcGccaaggacagctactctctg	7	10	10	14	3	2	0	1	0	1	0	4	1	3	1	2	1	4	4	2	1	2	3	rs397515403		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:138671275G>A	ENST00000263604.3	+	24	2743	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	KCNT1_ENST00000298480.5_Missense_Mutation_p.A934T|KCNT1_ENST00000486577.2_Missense_Mutation_p.A893T|KCNT1_ENST00000487664.1_Missense_Mutation_p.A889T|KCNT1_ENST00000490355.2_Missense_Mutation_p.A913T|KCNT1_ENST00000491806.2_Missense_Mutation_p.A901T|KCNT1_ENST00000371757.2_Missense_Mutation_p.A934T|KCNT1_ENST00000488444.2_Missense_Mutation_p.A915T			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	915			A -> T (in EIEE14; gain-of-function mutation). {ECO:0000269|PubMed:23086397}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTTCCGCGCCAAGGACAG	0.622																																						uc011mdq.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2800-2802)Gcc>Acc		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							140	133	135					9																	138671275		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138671275G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2743G>A	9.37:g.138671275G>A	ENSP00000263604:p.Ala915Thr					KCNT1_uc011mdr.2_Missense_Mutation_p.A761T|KCNT1_uc010nbf.3_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	p.A934T	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	23	2874	+		Myeloproliferative disorder(178;0.0821)	934					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2800G>A		.	.	.	.	.	.	.	.	.	.	G	19.95	3.922196	0.73213	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	3.77	3.77	0.43336	.	0.000000	0.85682	U	0.000000	T	0.80319	0.4601	L	0.43152	1.355	0.80722	D	1	D;P;P;D	0.69078	0.99;0.602;0.815;0.997	P;B;B;P	0.51016	0.536;0.091;0.241;0.656	T	0.81829	-0.0753	10	0.46703	T	0.11	-36.7238	15.5345	0.75993	0.0:0.0:1.0:0.0	.	901;934;889;915	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	T	889;934;934;893;901;915;913;915	ENSP00000417851:A889T;ENSP00000298480:A934T;ENSP00000360822:A934T;ENSP00000263604:A915T	ENSP00000263604:A915T	A	+	1	0	KCNT1	137811096	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	9.433000	0.97501	1.778000	0.52293	0.455000	0.32223	GCC		0.622	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138671275	G	A	138671275	3	1	60	1	0	0	0	0	1	0	0	0	8091	1087	38	1	2894	1	KCNT1	9	138671275	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	31310167	138671275	2542156	61	3957											
RIC8A	60626	broad.mit.edu	37	chr11	209578	209578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgacatctctgtctctGaggggtccgtcccagagtcc	6	11	11	13	1	2	3	0	2	2	1	7	3	5	3	3	2	1	1	3	2	0	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:209578G>A	ENST00000526104.1	+	3	1648	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BET1L_ENST00000325147.9_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.E96K|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.E102K|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000382762.3_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	102					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTGTCTCTGAGGGGTCCGT	0.617																																						uc001lof.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(304-306)Gag>Aag		Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.							56	56	56					11																	209578		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209578G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.304G>A	11.37:g.209578G>A	ENSP00000432008:p.Glu102Lys					BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.E102K|RIC8A_uc001loh.3_Missense_Mutation_p.E95K	p.E102K	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	629	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	102					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.304G>A		.	.	.	.	.	.	.	.	.	.	G	8.810	0.935047	0.18206	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000528357;ENST00000530889;ENST00000527696	.	.	.	4.56	2.66	0.31614	Armadillo-type fold (1);	2.989550	0.01047	N	0.004403	T	0.47040	0.1424	L	0.52364	1.645	0.22034	N	0.999401	B;B;B	0.16802	0.009;0.01;0.019	B;B;B	0.19148	0.01;0.024;0.014	T	0.29488	-1.0010	9	0.38643	T	0.18	-1.7941	9.4622	0.38792	0.0816:0.1515:0.7669:0.0	.	96;102;102	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	K	102;102;78;106;96	.	ENSP00000325941:E102K	E	+	1	0	RIC8A	199578	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	1.563000	0.36364	0.610000	0.30035	-0.258000	0.10820	GAG		0.617	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		A	209578	G	A	209578	3	1	60	1	0	0	0	0	1	0	0	0	13355	1291	45	3	314	3	RIC8A	11	209578	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		209578	134796938	62	3958											
GALNTL4	374378	broad.mit.edu	37	chr11	11398782	11398782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggccttggggggatttagGtagcggcaccacagctccca	8	7	14	12	1	0	0	0	0	0	0	1	1	1	1	3	6	2	3	3	6	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:11398782G>A	ENST00000227756.4	-	5	1335	c.924C>T	c.(922-924)taC>taT	p.Y308Y		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	308					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGGGATTTAGGTAGCGGCACC	0.532																																						uc001mjo.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(922-924)taC>taT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.							72	70	71					11																	11398782		2201	4294	6495	SO:0001819	synonymous_variant	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11398782G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.924C>T	11.37:g.11398782G>A							p.Y308Y	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	4	1345	-			308					O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.924C>T	CCDS7807.1																																																																																				0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		A	11398782	G	A	11398782	2	1	60	1	0	0	0	0	0	0	0	1	6223	1256	44	3		3	GALNTL4	11	11398782	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	11189204	11398782	123607734	63	3959											
C11orf41	25758	broad.mit.edu	37	chr11	33564672	33564672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccatctcctgtgccAgaaatgcccactcttccagc	7	9	6	19	0	2	1	0	0	2	1	5	1	4	1	7	0	3	0	7	0	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:33564672A>G	ENST00000321505.4	+	1	852	c.672A>G	c.(670-672)ccA>ccG	p.P224P	KIAA1549L_ENST00000265654.5_Silent_p.P224P|KIAA1549L_ENST00000389726.3_Silent_p.P224P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	224						integral component of membrane (GO:0016021)											CTCCTGTGCCAGAAATGCCCA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021qfs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						c.(670-672)ccA>ccG		Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.							83	82	83					11																	33564672		1949	4147	6096	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33564672A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.672A>G	11.37:g.33564672A>G			OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Silent_p.P224P	p.P224P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			0	796	+			224					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.672A>G	CCDS44565.2																																																																																				0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		G	33564672	A	G	33564672	2	3	60	1	0	0	0	0	0	0	0	1	1640	175	7	4		4	C11orf41	11	33564672	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	22165890	33564672	101441844	64	3960											
OR4A47	403253	broad.mit.edu	37	chr11	48510526	48510526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccaatgtacttctttcTtgctggcttatcatttatag	8	18	5	10	0	4	0	2	0	2	0	4	0	4	0	1	1	2	3	1	1	5	8			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:48510526T>C	ENST00000446524.1	+	1	258	c.182T>C	c.(181-183)cTt>cCt	p.L61P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TACTTCTTTCTTGCTGGCTTA	0.408																																						uc010rhx.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(181-183)cTt>cCt		Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.							59	57	58					11																	48510526		2201	4296	6497	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510526T>C	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.182T>C	11.37:g.48510526T>C	ENSP00000412752:p.Leu61Pro						p.L61P	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			0	182	+			61						Missense_Mutation	SNP	ENST00000446524.1	37	c.182T>C	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	11.78	1.741993	0.30865	.	.	ENSG00000237388	ENST00000446524	T	0.14893	2.47	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000171	T	0.60183	0.2249	H	0.99117	4.435	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.76669	-0.2874	10	0.87932	D	0	.	12.4924	0.55907	0.0:0.0:0.0:1.0	.	61	Q6IF82	O4A47_HUMAN	P	61	ENSP00000412752:L61P	ENSP00000412752:L61P	L	+	2	0	OR4A47	48467102	0.997000	0.39634	0.984000	0.44739	0.003000	0.03518	3.920000	0.56446	1.828000	0.53243	0.459000	0.35465	CTT		0.408	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		C	48510526	T	C	48510526	3	2	60	1	0	0	0	0	1	0	0	0	11042	1609	56	4	184	4	OR4A47	11	48510526	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	14945854	48510526	86495990	65	3961											
OR5I1	10798	broad.mit.edu	37	chr11	55703856	55703856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcagtgaccaacgtgtaGtttctatctgtaaattccat	12	14	6	9	1	3	1	1	1	2	0	4	1	4	1	2	0	2	3	2	0	6	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:55703856G>C	ENST00000301532.3	-	1	20	c.21C>G	c.(19-21)aaC>aaG	p.N7K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	7					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAACGTGTAGTTTCTATCTG	0.333																																						uc010ris.2																			0		p.R6R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(19-21)aaC>aaG		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							40	39	39					11																	55703856		2200	4291	6491	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703856G>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.21C>G	11.37:g.55703856G>C	ENSP00000301532:p.Asn7Lys						p.N7K	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	21	-			7					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.21C>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	9.570	1.120657	0.20877	.	.	ENSG00000167825	ENST00000301532	T	0.14766	2.48	4.97	1.5	0.22942	.	0.000000	0.51477	D	0.000088	T	0.16342	0.0393	M	0.84683	2.71	0.31000	N	0.72041	P	0.39665	0.682	B	0.35182	0.197	T	0.14839	-1.0458	10	0.87932	D	0	.	5.7604	0.18196	0.4639:0.0:0.5361:0.0	.	7	Q13606	OR5I1_HUMAN	K	7	ENSP00000301532:N7K	ENSP00000301532:N7K	N	-	3	2	OR5I1	55460432	0.007000	0.16637	0.850000	0.33497	0.199000	0.23934	-0.146000	0.10250	0.600000	0.29862	0.637000	0.83480	AAC		0.333	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		C	55703856	G	C	55703856	3	2	60	1	0	0	0	0	1	0	0	0	11164	1020	36	5	926	5	OR5I1	11	55703856	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	7193330	55703856	79302660	66	3962											
SLC22A8	9376	broad.mit.edu	37	chr11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcaggatgggcctgCggccaaacctgtagctcgaa	9	7	14	11	2	1	0	1	0	0	0	2	2	1	1	3	4	4	3	3	4	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:62767306C>T	ENST00000336232.2	-	4	581	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_ENST00000535878.1_Missense_Mutation_p.R26H|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R58H|SLC22A8_ENST00000430500.2_Missense_Mutation_p.R149H|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R149H	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	149			R -> S (complete loss of function; dbSNP:rs45566039). {ECO:0000269|PubMed:16291576}.		glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GATGGGCCTGCGGCCAAACCT	0.627																																						uc009yon.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(445-447)cGc>cAc		Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.							33	33	33					11																	62767306		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62767306C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.446G>A	11.37:g.62767306C>T	ENSP00000337335:p.Arg149His					SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.R26H|SLC22A8_uc001nwo.3_Missense_Mutation_p.R149H|SLC22A8_uc010rmm.2_Missense_Mutation_p.R58H|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H	p.R149H	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN			3	567	-			149		R -> S (complete loss of function; dbSNP:rs45566039).			B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.446G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364418	0.82463	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.056144	0.64402	D	0.000001	D	0.94644	0.8273	H	0.97051	3.93	0.45867	D	0.998725	D;D	0.71674	0.998;0.998	D;D	0.68483	0.93;0.958	D	0.96056	0.9035	10	0.87932	D	0	.	14.4746	0.67537	0.0:1.0:0.0:0.0	.	149;149	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	H	149;135;58;26;149;149	ENSP00000337335:R149H;ENSP00000441658:R58H;ENSP00000443368:R26H;ENSP00000311463:R149H;ENSP00000398548:R149H	ENSP00000311463:R149H	R	-	2	0	SLC22A8	62523882	0.999000	0.42202	1.000000	0.80357	0.692000	0.40212	5.231000	0.65327	2.486000	0.83907	0.511000	0.50034	CGC		0.627	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		T	62767306	C	T	62767306	3	4	60	1	0	0	0	0	1	0	0	0	14460	768	27	1	1214	1	SLC22A8	11	62767306	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7063450	62767306	72239210	67	3963											
HTR3A	3359	broad.mit.edu	37	chr11	113860380	113860380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccgagactggctgcgCgtgggctccgtgctggacaa	5	7	17	12	4	0	1	0	0	0	1	1	3	1	2	2	4	2	3	2	4	1	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:113860380C>T	ENST00000504030.2	+	9	1777	c.1332C>T	c.(1330-1332)cgC>cgT	p.R444R	HTR3A_ENST00000299961.5_Silent_p.R429R|HTR3A_ENST00000375498.2_Silent_p.R450R|HTR3A_ENST00000506841.2_Silent_p.R476R|HTR3A_ENST00000355556.2_Silent_p.R482R|HTR3A_ENST00000535865.1_Silent_p.R188R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	444	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	ACTGGCTGCGCGTGGGCTCCG	0.612																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1444-1446)cgC>cgT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						75	70	72					11																	113860380		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860380C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1332C>T	11.37:g.113860380C>T						HTR3A_uc010rxa.2_Silent_p.R450R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R429R	p.R482R	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1679	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	444					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1446C>T																																																																																					0.612	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		T	113860380	C	T	113860380	2	4	60	1	0	0	0	0	0	0	0	1	7444	755	27	1		1	HTR3A	11	113860380	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	51093074	113860380	21146136	68	3964											
C2CD2L	9854	broad.mit.edu	37	chr11	118984640	118984640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagagcccagtgggcGggtggccaagaagacaccca	11	3	15	12	1	0	4	0	1	0	3	0	4	0	4	3	3	1	1	3	3	2	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:118984640G>A	ENST00000528586.1	+	8	879	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	C2CD2L_ENST00000336702.3_Missense_Mutation_p.R523Q			O14523	C2C2L_HUMAN	C2CD2-like	522						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGGGCGGGTGGCCAAG	0.587																																						uc001pvn.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1567-1569)cGg>cAg		Homo sapiens C2CD2-like (C2CD2L), mRNA.							56	58	57					11																	118984640		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984640G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.809G>A	11.37:g.118984640G>A	ENSP00000433600:p.Arg270Gln					C2CD2L_uc001pvo.3_Missense_Mutation_p.R522Q	p.R523Q	NM_014807	NP_055622	O14523	C2C2L_HUMAN			11	1927	+			522					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.059876	0.76074	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.78924	-1.22;-1.22	5.25	5.25	0.73442	.	0.061938	0.64402	D	0.000010	T	0.67822	0.2934	N	0.25647	0.755	0.40099	D	0.976346	D;D	0.57899	0.981;0.981	P;P	0.47044	0.535;0.458	T	0.69771	-0.5055	10	0.51188	T	0.08	-7.1841	7.2572	0.26183	0.1762:0.0:0.8238:0.0	.	522;523	O14523;O14523-2	C2C2L_HUMAN;.	Q	523;270	ENSP00000338885:R523Q;ENSP00000433600:R270Q	ENSP00000338885:R523Q	R	+	2	0	C2CD2L	118489850	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.894000	0.56250	2.722000	0.93159	0.655000	0.94253	CGG		0.587	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		A	118984640	G	A	118984640	3	1	60	1	0	0	0	0	1	0	0	0	2153	1116	39	2	1614	2	C2CD2L	11	118984640	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	5124260	118984640	16021876	69	3965											
OR6M1	390261	broad.mit.edu	37	chr11	123676407	123676407	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggatggtagaaattatGtacacgtaggacccagtagt	13	9	12	7	2	0	1	0	0	0	1	0	3	0	3	1	3	1	5	1	3	6	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123676407G>A	ENST00000309154.2	-	1	688	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGAAATTATGTACACGTAGG	0.493																																						uc010rzz.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(649-651)taC>taT		Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.							73	64	67					11																	123676407		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676407G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.651C>T	11.37:g.123676407G>A							p.Y217Y	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	0	651	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	217					B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.651C>T	CCDS31696.1																																																																																				0.493	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		A	123676407	G	A	123676407	2	1	60	1	0	0	0	0	0	0	0	1	11205	1372	48	3		3	OR6M1	11	123676407	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	4691767	123676407	11330109	70	3966											
OR10G9	219870	broad.mit.edu	37	chr11	123894514	123894514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaccaggctccagggaCgtcgtggatggagttgtggc	7	8	17	9	2	0	1	0	1	0	1	2	5	1	4	2	5	0	2	2	5	0	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123894514C>T	ENST00000375024.1	+	1	795	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTCCAGGGACGTCGTGGATG	0.517																																						uc010sad.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(793-795)gaC>gaT		Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.							155	141	146					11																	123894514		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894514C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.795C>T	11.37:g.123894514C>T							p.D265D	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	795	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	265						Silent	SNP	ENST00000375024.1	37	c.795C>T	CCDS31703.1																																																																																				0.517	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		T	123894514	C	T	123894514	2	4	60	1	0	0	0	0	0	0	0	1	10904	535	19	1		1	OR10G9	11	123894514	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	218107	123894514	11112002	71	3967											
OR10G7	390265	broad.mit.edu	37	chr11	123908977	123908977	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagcaaaggaccacgatAcagtgggaggcacaggtctg	15	4	14	8	1	1	1	0	0	1	1	1	4	1	3	1	4	2	2	1	4	4	1	rs188316662	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123908977A>G	ENST00000330487.5	-	1	740	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACCACGATACAGTGGGAGG	0.567													A|||	2	0.000399361	0	0.0014	5008	,	,		18777	0.001		0	False		,,,				2504	0					uc001pzq.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(730-732)tgT>tgC		Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.							115	99	104					11																	123908977		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908977A>G	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.732T>C	11.37:g.123908977A>G							p.C244C	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	732	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	244					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.732T>C	CCDS31705.1																																																																																				0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		G	123908977	A	G	123908977	2	3	60	1	0	0	0	0	0	0	0	1	10902	389	14	4		4	OR10G7	11	123908977	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	14463	123908977	11097539	72	3968											
TSPAN9	10867	broad.mit.edu	37	chr12	3388164	3388164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcctttccagtttttcAtcgtcctgttggtcatcctc	3	19	5	14	1	2	0	2	0	0	0	8	0	6	0	5	1	0	2	5	1	0	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr12:3388164A>G	ENST00000011898.5	+	5	423	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	TSPAN9_ENST00000537971.1_Missense_Mutation_p.I88V|TSPAN9_ENST00000407263.1_Missense_Mutation_p.I88V|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	88						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CCAGTTTTTCATCGTCCTGTT	0.552																																						uc001qlp.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(262-264)Atc>Gtc		Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.							229	168	188					12																	3388164		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3388164A>G	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.262A>G	12.37:g.3388164A>G	ENSP00000011898:p.Ile88Val					TSPAN9_uc021qtd.1_Missense_Mutation_p.I88V	p.I88V	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	445	+			88					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.262A>G	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	A	9.925	1.213321	0.22289	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.80738	-1.41;-1.41;-1.41	5.4	1.82	0.25136	.	0.096714	0.64402	N	0.000001	T	0.62429	0.2427	N	0.25890	0.77	0.53688	D	0.99997	B	0.31125	0.309	B	0.32022	0.139	T	0.51671	-0.8676	10	0.06365	T	0.9	.	7.8401	0.29393	0.752:0.0:0.248:0.0	.	88	O75954	TSN9_HUMAN	V	88	ENSP00000444799:I88V;ENSP00000011898:I88V;ENSP00000384488:I88V	ENSP00000011898:I88V	I	+	1	0	TSPAN9	3258425	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	3.191000	0.50981	0.073000	0.16731	0.459000	0.35465	ATC		0.552	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		G	3388164	A	G	3388164	3	3	60	1	0	0	0	0	1	0	0	0	16651	217	8	4	272	4	TSPAN9	12	3388164	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08		3388164	130463731	73	3969											
PSMB11	122706	broad.mit.edu	37	chr14	23511816	23511816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcccagtgtggccagtGctgccaagctcttgtcagcc	6	9	12	14	0	2	0	1	0	1	0	2	0	2	0	4	1	6	3	4	1	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:23511816G>A	ENST00000408907.2	+	1	441	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGTGGCCAGTGCTGCCAAGCT	0.622																																						uc010ake.1																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(382-384)Gct>Act		Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.							67	73	71					14																	23511816		2138	4248	6386	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511816G>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.382G>A	14.37:g.23511816G>A	ENSP00000386212:p.Ala128Thr						p.A128T	NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	0	441	+	all_cancers(95;3.3e-05)		128						Missense_Mutation	SNP	ENST00000408907.2	37	c.382G>A	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775534	0.49786	.	.	ENSG00000222028	ENST00000408907	T	0.23552	1.9	5.24	4.33	0.51752	.	0.059354	0.64402	N	0.000003	T	0.36358	0.0964	M	0.89030	3	0.38219	D	0.940686	B	0.26809	0.16	B	0.25140	0.058	T	0.42172	-0.9467	10	0.59425	D	0.04	-2.2995	11.8811	0.52576	0.0873:0.0:0.9127:0.0	.	128	A5LHX3	PSB11_HUMAN	T	128	ENSP00000386212:A128T	ENSP00000386212:A128T	A	+	1	0	PSMB11	22581656	0.976000	0.34144	0.036000	0.18154	0.984000	0.73092	2.752000	0.47516	1.185000	0.42971	0.563000	0.77884	GCT		0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		A	23511816	G	A	23511816	3	1	60	1	0	0	0	0	1	0	0	0	12676	1319	46	3	384	3	PSMB11	14	23511816	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		23511816	83837724	74	3970											
ARHGAP5	394	broad.mit.edu	37	chr14	32561267	32561267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaggatgaagcctacaaAtatatcactgaggctgatag	15	9	11	6	0	1	3	1	3	0	0	1	5	1	5	1	3	2	1	1	3	6	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561267A>G	ENST00000345122.3	+	2	1707	c.1392A>G	c.(1390-1392)aaA>aaG	p.K464K	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.K464K|ARHGAP5_ENST00000539826.2_Silent_p.K464K|ARHGAP5_ENST00000432921.1_Silent_p.K464K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	464	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGCCTACAAATATATCACTG	0.373																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0		p.Y463F(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1390-1392)aaA>aaG		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							76	79	78					14																	32561267		2203	4298	6501	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561267A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1392A>G	14.37:g.32561267A>G						ARHGAP5_uc001wrm.3_Silent_p.K464K|ARHGAP5_uc001wrn.3_Silent_p.K464K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.K464K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	1631	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		464			FF 3.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1392A>G	CCDS32062.1																																																																																				0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		G	32561267	A	G	32561267	2	3	60	1	0	0	0	0	0	0	0	1	886	98	4	4		4	ARHGAP5	14	32561267	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	9049451	32561267	74788273	75	3971											
ARHGAP5	394	broad.mit.edu	37	chr14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagaaaagataaatacAtggctaatcttccatttaca	18	11	5	7	0	2	3	1	0	1	3	3	3	3	3	1	1	2	1	1	1	7	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561946A>T	ENST00000345122.3	+	2	2386	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.M691L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.M691L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.M691L|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	691					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2071-2073)Atg>Ttg		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							60	61	61					14																	32561946		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561946A>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2071A>T	14.37:g.32561946A>T	ENSP00000371897:p.Met691Leu					ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.M691L	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	2310	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		691					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2071A>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.637114	0.00799	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.54	5.54	0.83059	.	0.219081	0.64402	D	0.000020	T	0.03739	0.0106	N	0.02315	-0.6	0.33199	D	0.551871	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.20240	-1.0281	10	0.08381	T	0.77	.	15.9755	0.80060	1.0:0.0:0.0:0.0	.	691;691	Q13017-2;Q13017	.;RHG05_HUMAN	L	691	ENSP00000452222:M691L;ENSP00000441692:M691L;ENSP00000371897:M691L;ENSP00000393307:M691L	ENSP00000371897:M691L	M	+	1	0	ARHGAP5	31631697	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.489000	0.60309	2.219000	0.72066	0.528000	0.53228	ATG		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32561946	A	T	32561946	3	4	60	1	0	0	0	0	1	0	0	0	886	217	8	5	2073	5	ARHGAP5	14	32561946	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	679	32561946	74787594	76	3972											
LRFN5	145581	broad.mit.edu	37	chr14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaacgctgccccagtccGtgtccaaacaagctgtggga	9	8	12	12	2	0	0	0	0	0	0	2	1	2	1	4	1	4	3	4	1	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	589						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1765-1767)Gtg>Atg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							117	99	105					14																	42360832		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360832G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1765G>A	14.37:g.42360832G>A	ENSP00000298119:p.Val589Met	HNSCC(30;0.082)				LRFN5_uc010ana.3_Intron	p.V589M	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2963	+			589					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1765G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084060	0.07097	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.95	-8.33	0.00992	.	0.719510	0.12218	N	0.488691	T	0.15435	0.0372	N	0.08118	0	0.33496	D	0.589311	P	0.37370	0.592	B	0.22880	0.042	T	0.20672	-1.0268	10	0.42905	T	0.14	.	7.3406	0.26635	0.2434:0.0993:0.5598:0.0975	.	589	Q96NI6	LRFN5_HUMAN	M	589	ENSP00000298119:V589M	ENSP00000298119:V589M	V	+	1	0	LRFN5	41430582	0.000000	0.05858	0.103000	0.21229	0.809000	0.45718	-0.726000	0.04936	-1.450000	0.01936	-0.157000	0.13467	GTG		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		A	42360832	G	A	42360832	3	1	60	1	0	0	0	0	1	0	0	0	8941	1145	40	1	1771	1	LRFN5	14	42360832	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	9798886	42360832	64988708	77	3973											
CDC42BPB	9578	broad.mit.edu	37	chr14	103440447	103440447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgctcttggcgaagcGccactgtgtcctcaagctgt	6	10	10	15	3	3	0	2	0	1	0	4	1	4	0	3	1	2	2	3	1	2	1	rs149124468		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:103440447G>A	ENST00000361246.2	-	12	1835	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGCGAAGCGCCACTGTGTC	0.537																																						uc001ymi.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1546-1548)gCg>gTg		Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.		G	VAL/ALA	0,4406		0,0,2203	58	54	55		1547	3.2	0	14	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CDC42BPB	NM_006035.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	516/1712	103440447	1,13005	2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103440447G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1547C>T	14.37:g.103440447G>A	ENSP00000355237:p.Ala516Val						p.A516V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1779	-		Melanoma(154;0.155)	516						Missense_Mutation	SNP	ENST00000361246.2	37	c.1547C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422281	0.25639	0.0	1.16E-4	ENSG00000198752	ENST00000361246	T	0.65178	-0.14	5.18	3.2	0.36748	.	0.497596	0.24010	N	0.042382	T	0.47655	0.1457	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37753	-0.9692	10	0.45353	T	0.12	.	10.219	0.43186	0.1758:0.0:0.8242:0.0	.	516	Q9Y5S2	MRCKB_HUMAN	V	516	ENSP00000355237:A516V	ENSP00000355237:A516V	A	-	2	0	CDC42BPB	102510200	0.996000	0.38824	0.000000	0.03702	0.394000	0.30568	7.662000	0.83803	0.464000	0.27142	0.462000	0.41574	GCG		0.537	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103440447	G	A	103440447	3	1	60	1	0	0	0	0	1	0	0	0	3073	1087	38	1	3692	1	CDC42BPB	14	103440447	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	61079615	103440447	3909093	78	3974											
AHNAK2	113146	broad.mit.edu	37	chr14	105409046	105409046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcatcacatccgccttggGgcctttcaggtccagcttgg	5	11	12	13	1	3	0	3	0	0	0	5	0	5	0	4	5	1	1	4	5	0	3	rs574649015	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:105409046G>A	ENST00000333244.5	-	7	12861	c.12742C>T	c.(12742-12744)Ccc>Tcc	p.P4248S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4248						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGCCTTTCAGG	0.647																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12742-12744)Ccc>Tcc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							115	126	122					14																	105409046		1887	4108	5995	SO:0001583	missense	113146					nucleus		g.chr14:105409046G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12742C>T	14.37:g.105409046G>A	ENSP00000353114:p.Pro4248Ser					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	p.P4248S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	12862	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4248					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12742C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.47	2.545895	0.45280	.	.	ENSG00000185567	ENST00000333244	T	0.05649	3.41	3.8	-1.05	0.10036	.	0.219539	0.22532	U	0.058837	T	0.17619	0.0423	M	0.89030	3	0.09310	N	1	P	0.35139	0.486	P	0.45167	0.472	T	0.15954	-1.0419	10	0.33940	T	0.23	-10.7586	14.8334	0.70164	0.0:0.6085:0.3915:0.0	.	4248	Q8IVF2	AHNK2_HUMAN	S	4248	ENSP00000353114:P4248S	ENSP00000353114:P4248S	P	-	1	0	AHNAK2	104480091	0.017000	0.18338	0.000000	0.03702	0.045000	0.14185	0.426000	0.21363	-0.221000	0.09973	0.297000	0.19635	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105409046	G	A	105409046	3	1	60	1	0	0	0	0	1	0	0	0	415	1232	43	3	4649	3	AHNAK2	14	105409046	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1968599	105409046	1940494	79	3975											
OR4N4	283694	broad.mit.edu	37	chr15	22383070	22383070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggtggagcttctaatgGtcttcaacagtggcctgatg	7	14	13	7	0	3	1	1	1	2	0	3	2	3	2	1	4	2	1	1	4	2	4	rs375688421		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:22383070G>A	ENST00000328795.4	+	1	689	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTTCTAATGGTCTTCAACAG	0.522																																						uc001yuc.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(598-600)Gtc>Atc		Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.		G	ILE/VAL	1,4379		0,1,2189	122	98	106		598	1.4	1	15		106	0,8518		0,0,4259	no	missense	OR4N4	NM_001005241.2	29	0,1,6448	AA,AG,GG		0.0,0.0228,0.0078	benign	200/317	22383070	1,12897	2190	4259	6449	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383070G>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.598G>A	15.37:g.22383070G>A	ENSP00000332500:p.Val200Ile					abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.V200I	p.V200I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	6	1579	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	200					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.598G>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	0.725	-0.781937	0.02929	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00076	8.76	3.37	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.329764	0.21560	N	0.072582	T	0.00073	0.0002	N	0.21583	0.68	0.21020	N	0.999806	B	0.19935	0.04	B	0.26969	0.075	T	0.24048	-1.0171	10	0.06891	T	0.86	-7.6556	3.344	0.07128	0.237:0.0:0.5626:0.2003	.	200	Q8N0Y3	OR4N4_HUMAN	I	200	ENSP00000332500:V200I	ENSP00000332500:V200I	V	+	1	0	OR4N4	19884434	0.000000	0.05858	0.994000	0.49952	0.682000	0.39822	-0.688000	0.05150	0.215000	0.20761	0.404000	0.27445	GTC		0.522	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			A	22383070	G	A	22383070	3	1	60	1	0	0	0	0	1	0	0	0	11078	1261	44	3	600	3	OR4N4	15	22383070	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		22383070	80148322	80	3976											
SYNM	23336	broad.mit.edu	37	chr15	99672043	99672043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggaggtgacctaagtCaggcagcgagcccgaccgga	9	4	17	11	4	1	1	1	1	0	0	1	5	1	3	3	4	3	1	3	4	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:99672043C>A	ENST00000336292.6	+	5	3595	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1160	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGACCTAAGTCAGGCAGCGAG	0.587																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3475-3477)Cag>Aag		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.							39	43	42					15																	99672043		2087	4219	6306	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672043C>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3475C>A	15.37:g.99672043C>A	ENSP00000336775:p.Gln1159Lys					SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	p.Q1159K	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	3595	+			1160			Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.3475C>A		.	.	.	.	.	.	.	.	.	.	C	12.52	1.961401	0.34565	.	.	ENSG00000182253	ENST00000336292	D	0.82893	-1.66	5.27	1.73	0.24493	.	.	.	.	.	T	0.73118	0.3546	.	.	.	0.09310	N	0.999999	B	0.25667	0.131	B	0.22386	0.039	T	0.63839	-0.6546	8	0.66056	D	0.02	.	6.8662	0.24094	0.0:0.6511:0.154:0.1949	.	1160	O15061	SYNEM_HUMAN	K	1159	ENSP00000336775:Q1159K	ENSP00000336775:Q1159K	Q	+	1	0	SYNM	97489566	0.109000	0.22037	0.000000	0.03702	0.003000	0.03518	0.673000	0.25203	0.542000	0.28846	0.655000	0.94253	CAG		0.587	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		A	99672043	C	A	99672043	3	1	60	1	0	0	0	0	1	0	0	0	15452	827	29	5	3491	5	SYNM	15	99672043	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	77288973	99672043	2859349	81	3977											
ERN2	10595	broad.mit.edu	37	chr16	23718180	23718180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggcatcctgcttccGgcctgtggaggtggaaagtg	9	8	14	10	1	0	0	0	0	0	0	2	2	2	2	4	5	2	2	4	5	2	1	rs148177655	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr16:23718180G>A	ENST00000457008.2	-	6	420	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	ERN2_ENST00000256797.4_Missense_Mutation_p.R176W					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592																																						uc002dma.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(526-528)Cgg>Tgg		Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.		G	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	31	31	31		526	4.7	1	16	dbSNP_134	31	0,8600		0,0,4300	yes	missense	ERN2	NM_033266.3	101	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	176/975	23718180	1,12993	2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718180G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.382C>T	16.37:g.23718180G>A	ENSP00000413812:p.Arg128Trp					ERN2_uc010bxp.3_Missense_Mutation_p.R176W|ERN2_uc010bxq.1_5'UTR	p.R176W	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	695	-			128						Missense_Mutation	SNP	ENST00000457008.2	37	c.526C>T		.	.	.	.	.	.	.	.	.	.	G	23.5	4.427550	0.83667	2.28E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.57107	0.42;0.42	5.73	4.72	0.59763	.	0.054383	0.64402	D	0.000001	T	0.68035	0.2957	M	0.75777	2.31	0.40468	D	0.980311	D;D	0.89917	1.0;1.0	D;D	0.66084	0.936;0.941	T	0.71849	-0.4468	10	0.87932	D	0	.	10.59	0.45304	0.0:0.0:0.6866:0.3134	.	128;128	E7ETG2;A5YM65	.;.	W	176;128	ENSP00000256797:R176W;ENSP00000413812:R128W	ENSP00000256797:R176W	R	-	1	2	ERN2	23625681	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.852000	0.62904	2.712000	0.92718	0.557000	0.71058	CGG		0.592	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			A	23718180	G	A	23718180	3	1	60	1	0	0	0	0	1	0	0	0	5238	1115	39	2	2466	2	ERN2	16	23718180	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		23718180	66636573	82	3978											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	60	1	0	0	0	0	1	0	0	0	16378	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08		7578394	73616816	83	3979											
ZNF286B	729288	broad.mit.edu	37	chr17	18566092	18566093	+	Frame_Shift_Ins	INS	-	-	T																															caatcattacatttatgaggINSttttttctctttataagttc																										TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:18566092_18566093insT	ENST00000545289.1	-	5	976_977	c.726_727insA	c.(724-729)aaacctfs	p.P243fs	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CATTTATGAGGTTTTTTCTCTT	0.366																																						uc010vyd.1																			0				endometrium(1)|lung(1)	2						c.(724-729)aaacctfs		Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.																																				SO:0001589	frameshift_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566092_18566093insT		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.727dupA	17.37:g.18566098_18566098dupT	ENSP00000461413:p.Pro243fs						p.K242fs	NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN			4	977_978	-			242						Frame_Shift_Ins	INS	ENST00000545289.1	37	c.726_727insA	CCDS58523.1																																																																																				0.366	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		T	18566093	-	T	18566092	7	5	60	1	0	1	1	0	0	0	0	0	17821	1261	44	0	845	0	ZNF286B	17	18566092	Frame_Shift_Ins	INS	-	TCGA-06-0744-01A-01W-0348-08	10987698	18566092	62629118	84	3980											
LAMA1	284217	broad.mit.edu	37	chr18	7037694	7037694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagtgcatcttgctgagaCgggatcttcctgggactgat	7	12	12	10	1	2	2	0	2	2	1	3	5	3	4	2	2	2	2	2	2	1	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:7037694C>T	ENST00000389658.3	-	12	1713	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	540	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTTGCTGAGACGGGATCTTCC	0.507																																						uc002knm.3																			0		p.I539M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1618-1620)ccG>ccA		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99	83	88					18																	7037694		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7037694C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1620G>A	18.37:g.7037694C>T						LAMA1_uc010wzj.2_Silent_p.P16P	p.P540P	NM_005559	NP_005550	P25391	LAMA1_HUMAN			11	1714	-		Colorectal(10;0.172)	540			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.1620G>A	CCDS32787.1																																																																																				0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7037694	C	T	7037694	2	4	60	1	0	0	0	0	0	0	0	1	8605	523	19	1		1	LAMA1	18	7037694	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08		7037694	71039554	85	3981											
SIGLEC15	284266	broad.mit.edu	37	chr18	43418924	43418924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacagcctgggccgctcCgaggccagcgtctacctgtt	6	7	12	16	3	1	0	0	0	1	0	2	1	2	0	6	2	4	2	6	2	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:43418924C>T	ENST00000389474.3	+	4	955	c.738C>T	c.(736-738)tcC>tcT	p.S246S	SIGLEC15_ENST00000587418.1_Missense_Mutation_p.P16L|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Silent_p.S92S	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	246	Ig-like C2-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGGGCCGCTCCGAGGCCAGCG	0.711																																						uc002lbl.1																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(736-738)tcC>tcT		Homo sapiens sialic acid binding Ig-like lectin 15 (SIGLEC15), mRNA.							10	12	12					18																	43418924		2093	4147	6240	SO:0001819	synonymous_variant	284266					integral to membrane		g.chr18:43418924C>T	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27596	protein-coding gene	gene with protein product			"CD33 antigen-like 3", "CD33 molecule-like 3"	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.738C>T	18.37:g.43418924C>T						SIGLEC15_uc010xcp.1_Non-coding_Transcript	p.S246S	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN			3	887	+			246			Ig-like C2-type.		A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	37	c.738C>T	CCDS32819.1																																																																																				0.711	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		T	43418924	C	T	43418924	2	4	60	1	0	0	0	0	0	0	0	1	14310	639	23	2		2	SIGLEC15	18	43418924	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	36381230	43418924	34658324	86	3982											
HDHD2	84064	broad.mit.edu	37	chr18	44635107	44635110	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															tgagggaaactctcacaagtTaagtaaggaggtggattaat																										TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:44635107_44635110delTAAG	ENST00000300605.6	-	7	875_878	c.723_726delCTTA	c.(721-726)tacttafs	p.YL241fs	RP11-49K24.8_ENST00000591183.1_RNA|HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	241						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TCTCACAAGTTAAGTAAGGAGGTG	0.407																																						uc002lcs.3																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(721-726)tacttafs		Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.																																				SO:0001589	frameshift_variant	84064						hydrolase activity	g.chr18:44635107_44635110delTAAG	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.723_726delCTTA	18.37:g.44635111_44635114delTAAG	ENSP00000300605:p.Tyr241fs					HDHD2_uc002lct.3_Frame_Shift_Del_p.Y151fs	p.Y241fs	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN			6	856_859	-			241					A8K7T3|Q96NV4	Frame_Shift_Del	DEL	ENST00000300605.6	37	c.723_726delCTTA	CCDS32829.1																																																																																				0.407	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		-	44635110	TAAG	-	44635107	7	5	60	1	0	1	0	1	0	0	0	0	7023	1751	61	0	57	0	HDHD2	18	44635107	Frame_Shift_Del	DEL	TAAG	TCGA-06-0744-01A-01W-0348-08	1216183	44635107	33442141	87	3983											
SERPINB4	6318	broad.mit.edu	37	chr18	61307011	61307011	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataggtttttaattttttCtgcaagggaaagaataaaag	17	14	8	2	0	1	1	0	0	1	1	1	2	1	2	0	2	1	2	0	2	8	8	rs534619178		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:61307011C>T	ENST00000341074.5	-	6	585		c.e6-1		SERPINB4_ENST00000356424.6_Splice_Site	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTAATTTTTTCTGCAAGGGAA	0.373																																						uc002ljf.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.e6-1		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							77	79	78					18																	61307011		2202	4299	6501	SO:0001630	splice_region_variant	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61307011C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.470-1G>A	18.37:g.61307011C>T						SERPINB3_uc002lje.3_Splice_Site_p.E157_splice|SERPINB3_uc002ljg.3_Intron	p.E157_splice	NM_002974	NP_002965	P29508	SPB3_HUMAN			6	556	-			157					A8K847	Splice_Site	SNP	ENST00000341074.5	37	c.470_splice	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	9.080	0.999019	0.19121	.	.	ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000413673;ENST00000436264	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9139	0.79496	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINB4	59457991	0.999000	0.42202	0.464000	0.27143	0.067000	0.16453	5.719000	0.68462	2.214000	0.71695	0.603000	0.83216	.		0.373	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	Intron	T	61307011	C	T	61307011	5	4	60	1	0	0	0	0	0	0	1	0	14103	927	32	3	715	3	SERPINB4	18	61307011	Splice_Site	SNP	C	TCGA-06-0744-01A-01W-0348-08	16671904	61307011	16770237	88	3984											
ZNF493	284443	broad.mit.edu	37	chr19	21606942	21606942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctacaaatgtgaagaatGtggcaaagcttttaaccaat	16	10	7	8	0	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	7	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:21606942G>A	ENST00000355504.4	+	2	1363	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C494Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGAAGAATGTGGCAAAGCT	0.328																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1480-1482)tGt>tAt		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							32	35	34					19																	21606942		2186	4280	6466	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606942G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1097G>A	19.37:g.21606942G>A	ENSP00000347691:p.Cys366Tyr					ZNF493_uc002npx.3_Missense_Mutation_p.C366Y|ZNF493_uc002npy.3_Missense_Mutation_p.C366Y|ZNF493_uc021urq.1_Missense_Mutation_p.C366Y	p.C494Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN			3	1600	+			366					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1481G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.43	2.531898	0.45073	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85861	-2.04;-2.04	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93654	0.7973	H	0.96576	3.845	0.80722	D	1	D;D	0.67145	0.979;0.996	P;D	0.76575	0.89;0.988	D	0.92473	0.5987	9	0.87932	D	0	.	8.9126	0.35563	0.0:0.0:1.0:0.0	.	366;494	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	494;366	ENSP00000376110:C494Y;ENSP00000347691:C366Y	ENSP00000347691:C366Y	C	+	2	0	ZNF493	21398782	0.981000	0.34729	0.152000	0.22495	0.150000	0.21749	3.373000	0.52394	0.453000	0.26858	0.461000	0.40582	TGT		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		A	21606942	G	A	21606942	3	1	60	1	0	0	0	0	1	0	0	0	17941	1377	48	3	1558	3	ZNF493	19	21606942	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		21606942	37522041	89	3985											
ZNF99	7652	broad.mit.edu	37	chr19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttccagtatgaattatctTatgttttctaagggctgaga	10	17	8	6	0	2	2	0	2	2	1	3	3	3	2	1	1	0	3	1	1	5	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941129T>G	ENST00000596209.1	-	4	1672	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K437Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.333																																						uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1582-1584)Aag>Cag		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.																																				SO:0001583	missense	7652							g.chr19:22941129T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1582A>C	19.37:g.22941129T>G	ENSP00000472969:p.Lys528Gln						p.K528Q	NM_001080409	NP_001073878					3	1737	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1582A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.033	-1.323055	0.01320	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.29	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	N	0.20610	0.595	0.09310	N	1	D	0.56035	0.974	P	0.62184	0.899	T	0.07195	-1.0785	9	0.02654	T	1	.	7.2218	0.25992	0.0:0.0:0.6996:0.3004	.	437	A8MXY4	ZNF99_HUMAN	Q	437	ENSP00000380293:K437Q	ENSP00000380293:K437Q	K	-	1	0	ZNF99	22732969	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.164000	0.03135	-0.293000	0.08986	0.329000	0.21502	AAG		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		G	22941129	T	G	22941129	3	3	60	1	0	0	0	0	1	0	0	0	18201	1763	61	5	1815	5	ZNF99	19	22941129	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	1334187	22941129	36187854	90	3986			1	13		2	2	26	N	T_C	7.913961e-05
ZNF99	7652	broad.mit.edu	37	chr19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctaagggctgagaaatgCttaaaagctttgccacattc	12	13	8	8	0	1	1	0	1	1	1	2	2	1	1	1	1	3	3	1	1	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941154C>G	ENST00000596209.1	-	4	1647	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K428N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353																																						uc021urt.1																			0		p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1555-1557)aaG>aaC		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							36	37	37					19																	22941154		2012	4190	6202	SO:0001583	missense	7652							g.chr19:22941154C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1557G>C	19.37:g.22941154C>G	ENSP00000472969:p.Lys519Asn						p.K519N	NM_001080409	NP_001073878					3	1712	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1557G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.118307	0.00349	.	.	ENSG00000213973	ENST00000397104	T	0.07567	3.18	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46721	-0.9171	9	0.14252	T	0.57	.	1.8516	0.03170	0.1596:0.3714:0.3123:0.1568	.	428	A8MXY4	ZNF99_HUMAN	N	428	ENSP00000380293:K428N	ENSP00000380293:K428N	K	-	3	2	ZNF99	22732994	0.000000	0.05858	0.002000	0.10522	0.184000	0.23303	-7.212000	0.00041	-1.397000	0.02068	-1.031000	0.02408	AAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		G	22941154	C	G	22941154	3	3	60	1	0	0	0	0	1	0	0	0	18201	796	28	5	1840	5	ZNF99	19	22941154	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	25	22941154	36187829	91	3987			1	13		2	2	26	N	T_C	7.913961e-05
CCDC8	83987	broad.mit.edu	37	chr19	46914965	46914965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctggggcctctgccCtctgattatctgcagcctct	4	12	11	14	0	5	1	1	1	4	0	5	1	5	1	3	3	4	2	3	3	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:46914965C>T	ENST00000307522.3	-	1	1876	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	368					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCCTCTGCCCTCTGATTATC	0.612																																						uc002pep.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1102-1104)aGg>aAg		Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.							121	121	121					19																	46914965		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914965C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1103G>A	19.37:g.46914965C>T	ENSP00000303158:p.Arg368Lys						p.R368K	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	0	1955	-			368					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1103G>A	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.490731|1.490731	0.26686|0.26686	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000540252|ENST00000307522	.|T	.|0.14893	.|2.47	3.39|3.39	2.35|2.35	0.29111|0.29111	.|.	.|0.801728	.|0.10528	.|N	.|0.664229	T|T	0.15003|0.15003	0.0362|0.0362	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.40731	.|0.728	.|B	.|0.32980	.|0.156	T|T	0.15350|0.15350	-1.0440|-1.0440	6|10	0.72032|0.12766	D|T	0.01|0.61	-3.2833|-3.2833	8.8491|8.8491	0.35188|0.35188	0.0:0.8839:0.0:0.1161|0.0:0.8839:0.0:0.1161	.|.	.|368	.|Q9H0W5	.|CCDC8_HUMAN	R|K	215|368	.|ENSP00000303158:R368K	ENSP00000441180:G215R|ENSP00000303158:R368K	G|R	-|-	1|2	0|0	CCDC8|CCDC8	51606805|51606805	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.022000|0.022000	0.10575|0.10575	0.216000|0.216000	0.17585|0.17585	1.001000|1.001000	0.39076|0.39076	0.313000|0.313000	0.20887|0.20887	GGG|AGG		0.612	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		T	46914965	C	T	46914965	3	4	60	1	0	0	0	0	1	0	0	0	2853	681	24	3	517	3	CCDC8	19	46914965	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	23973811	46914965	12214018	92	3988											
A1BG	1	broad.mit.edu	37	chr19	58863692	58863692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggctcagagagggcGccttccccatcggtccggta	5	7	15	14	4	1	1	1	0	0	1	4	2	3	1	4	4	0	3	4	4	1	2	rs138577019		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:58863692G>A	ENST00000263100.3	-	4	631	c.570C>T	c.(568-570)ggC>ggT	p.G190G	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	190	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G190G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAGAGAGGGCGCCTTCCCCAT	0.622																																						uc002qsd.4																			1	Substitution - coding silent(1)	p.G190G(2)	lung(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(568-570)ggC>ggT		Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	104	92	96		570	-8.1	0	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	A1BG	NM_130786.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		190/496	58863692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58863692G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.570C>T	19.37:g.58863692G>A						A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	p.G190G	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	632	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	190			Ig-like V-type 2.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.570C>T	CCDS12976.1																																																																																				0.622	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		A	58863692	G	A	58863692	2	1	60	1	0	0	0	0	0	0	0	1	1	1074	38	1		1	A1BG	19	58863692	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	11948727	58863692	265291	93	3989											
VPS16	64601	broad.mit.edu	37	chr20	2846921	2846921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaagtatgcttcccgcGtgggtcccgagcagaaggtc	9	7	13	12	3	0	2	0	0	0	2	3	3	2	2	3	2	2	3	3	2	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:2846921G>A	ENST00000380445.3	+	23	2407	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	VPS16_ENST00000380469.3_Missense_Mutation_p.V635M|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.V465M	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	779					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGCTTCCCGCGTGGGTCCCGA	0.552																																						uc002whe.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2335-2337)Gtg>Atg		Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.							167	140	149					20																	2846921		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2846921G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2335G>A	20.37:g.2846921G>A	ENSP00000369810:p.Val779Met					PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.V635M|VPS16_uc002whg.3_Missense_Mutation_p.V465M	p.V779M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			22	2383	+			779					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2335G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543604	0.86022	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.53423	0.62;0.62;0.62	5.22	5.22	0.72569	Vps16, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.99;0.988;0.993	T	0.68496	-0.5393	10	0.87932	D	0	-22.7601	16.3271	0.82987	0.0:0.0:1.0:0.0	.	255;465;635;779	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	M	779;635;465	ENSP00000369810:V779M;ENSP00000369836:V635M;ENSP00000369808:V465M	ENSP00000369808:V465M	V	+	1	0	VPS16	2794921	1.000000	0.71417	0.963000	0.40424	0.977000	0.68977	8.770000	0.91746	2.706000	0.92434	0.561000	0.74099	GTG		0.552	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		A	2846921	G	A	2846921	3	1	60	1	0	0	0	0	1	0	0	0	17190	1145	40	1	2425	1	VPS16	20	2846921	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		2846921	60178599	94	3990											
RALGAPA2	57186	broad.mit.edu	37	chr20	20475882	20475882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctctggagtgttcagacCagacgatatggacctcgtca	10	10	11	10	2	3	2	2	0	1	2	5	5	3	4	2	2	0	1	2	2	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:20475882C>A	ENST00000202677.7	-	36	5253	c.5246G>T	c.(5245-5247)tGg>tTg	p.W1749L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1749	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGTTCAGACCAGACGATATG	0.438																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(5245-5247)tGg>tTg		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							119	116	117					20																	20475882		1883	4117	6000	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20475882C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5246G>T	20.37:g.20475882C>A	ENSP00000202677:p.Trp1749Leu					RALGAPA2_uc002wry.3_Missense_Mutation_p.W1364L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.W1197L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W521L	p.W1749L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			35	5389	-			1749			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.5246G>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.117465|5.117465	0.94385|0.94385	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.94576	.|-3.46;-3.46	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98317|0.98317	0.9442|0.9442	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	D|D	0.98799|0.98799	1.0739|1.0739	5|10	.|0.87932	.|D	.|0	.|.	20.2576|20.2576	0.98430|0.98430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1587;1749;1749	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	C|L	1566;160|179;1749	.|ENSP00000408332:W179L;ENSP00000202677:W1749L	.|ENSP00000202677:W1749L	G|W	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20423882|20423882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.764000|7.764000	0.85297|0.85297	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.438	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		A	20475882	C	A	20475882	3	1	60	1	0	0	0	0	1	0	0	0	13014	595	21	5	391	5	RALGAPA2	20	20475882	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	17628961	20475882	42549638	95	3991											
CHRNA4	1137	broad.mit.edu	37	chr20	61978100	61978100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtcccttcctagatcatgCcagccagccagggcggcagg	7	6	13	15	2	1	1	1	0	0	1	3	1	3	1	5	4	3	1	5	4	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:61978100C>T	ENST00000370263.4	-	6	2095	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	625					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CTAGATCATGCCAGCCAGCCA	0.677																																						uc002yes.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1873-1875)gGc>gAc		Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	Nicotine(DB00184)|Varenicline(DB01273)						67	44	52					20																	61978100		2201	4298	6499	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978100C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1874G>A	20.37:g.61978100C>T	ENSP00000359285:p.Gly625Asp					CHRNA4_uc002yet.1_Missense_Mutation_p.G449D|CHRNA4_uc010gke.1_Missense_Mutation_p.G554D|CHRNA4_uc002yev.1_Missense_Mutation_p.G449D|CHRNA4_uc010gkf.1_Missense_Mutation_p.G449D	p.G625D	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	2052	-	all_cancers(38;1.71e-10)		625					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1874G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236251	0.95240	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.83075	-1.68	4.43	4.43	0.53597	.	0.167126	0.53938	D	0.000047	T	0.82199	0.4985	N	0.11313	0.125	0.80722	D	1	D;D	0.69078	0.992;0.997	D;P	0.65874	0.939;0.861	D	0.85695	0.1309	10	0.51188	T	0.08	.	17.3789	0.87399	0.0:1.0:0.0:0.0	.	554;625	Q4VAQ5;P43681	.;ACHA4_HUMAN	D	531;625;554	ENSP00000359285:G625D	ENSP00000359280:G531D	G	-	2	0	CHRNA4	61448544	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.869000	0.69613	2.177000	0.69029	0.511000	0.50034	GGC		0.677	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			T	61978100	C	T	61978100	3	4	60	1	0	0	0	0	1	0	0	0	3385	739	26	3	13	3	CHRNA4	20	61978100	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	41502218	61978100	1047420	96	3992											
RFPL2	10739	broad.mit.edu	37	chr22	32589175	32589175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaagagtgcagccatGtccactgccaggggaaaagt	11	8	13	9	0	1	1	0	0	1	1	2	3	2	3	3	3	3	1	3	3	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr22:32589175G>A	ENST00000400237.1	-	4	1205	c.270C>T	c.(268-270)gaC>gaT	p.D90D	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_5'UTR|RFPL2_ENST00000248980.4_Silent_p.D29D			O75678	RFPL2_HUMAN	ret finger protein-like 2	90							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGCAGCCATGTCCACTGCCA	0.478																																						uc003amg.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(268-270)gaC>gaT		Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.							68	71	70					22																	32589175		2203	4300	6503	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32589175G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.270C>T	22.37:g.32589175G>A						RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	p.D90D	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN			3	1206	-			90						Silent	SNP	ENST00000400237.1	37	c.270C>T	CCDS43009.2																																																																																				0.478	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		A	32589175	G	A	32589175	2	1	60	1	0	0	0	0	0	0	0	1	13254	1368	48	3		3	RFPL2	22	32589175	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08		32589175	18715391	97	3993											
CXorf57	55086	broad.mit.edu	37	chrX	105881005	105881005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtcatagaggccagcCgtatacgtatgatgccaagg	12	7	14	8	2	1	2	1	1	0	1	1	3	1	3	3	4	3	2	3	4	5	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chrX:105881005C>T	ENST00000372548.4	+	8	1533	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Missense_Mutation_p.P475L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	475							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAGGCCAGCCGTATACGTAT	0.368																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1423-1425)cCg>cTg		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							68	61	63					X																	105881005		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105881005C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1424C>T	X.37:g.105881005C>T	ENSP00000361628:p.Pro475Leu					CXorf57_uc004emj.4_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L|Mir_548_uc022ccb.1_5'Flank	p.P475L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			7	1575	+			475					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1424C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240253	0.58995	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.66460	-0.21;0.1;0.02	4.42	1.66	0.24008	.	0.177532	0.50627	N	0.000111	T	0.50103	0.1596	L	0.38175	1.15	0.45962	D	0.998787	B;B;B	0.31989	0.078;0.078;0.35	B;B;B	0.28385	0.017;0.017;0.089	T	0.30822	-0.9965	10	0.33940	T	0.23	0.0166	8.6824	0.34216	0.0:0.7241:0.0:0.2759	.	475;475;475	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	L	475;475;283	ENSP00000361623:P475L;ENSP00000361628:P475L;ENSP00000405866:P283L	ENSP00000361623:P475L	P	+	2	0	CXorf57	105767661	0.988000	0.35896	0.049000	0.19019	0.868000	0.49771	2.731000	0.47343	0.075000	0.16796	0.513000	0.50165	CCG		0.368	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		T	105881005	C	T	105881005	3	4	60	1	0	0	0	0	1	0	0	0	4113	652	23	2	1454	2	CXorf57	23	105881005	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08		105881005	49389555	98	3994											
PTCHD2	57540	broad.mit.edu	37	chr1	11596726	11596726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctataagattcccctgcccGcaggggcctccctatagccc	7	8	9	17	1	0	1	0	0	0	1	2	1	2	1	6	2	2	2	6	2	4	5	rs533939192		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:11596726G>T	ENST00000294484.6	+	21	4300	c.4162G>T	c.(4162-4164)Gca>Tca	p.A1388S	PTCHD2_ENST00000304391.6_3'UTR|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1388S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1388					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCCCTGCCCGCAGGGGCCTC	0.662																																						uc001ash.4																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(4162-4164)Gca>Tca		Homo sapiens patched domain containing 2 (PTCHD2), mRNA.							7	8	8					1																	11596726		1814	4054	5868	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596726G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.4162G>T	1.37:g.11596726G>T	ENSP00000294484:p.Ala1388Ser						p.A1388S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	20	4300	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1388					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.4162G>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.358376	0.00214	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.88354	-2.37;-2.37	4.87	-0.275	0.12906	.	0.631229	0.14444	N	0.319233	T	0.64394	0.2594	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57159	-0.7859	10	0.02654	T	1	-0.1897	4.3938	0.11353	0.5269:0.0:0.3298:0.1433	.	1388	Q9P2K9	PTHD2_HUMAN	S	1388	ENSP00000294484:A1388S;ENSP00000374226:A1388S	ENSP00000294484:A1388S	A	+	1	0	PTCHD2	11519313	0.137000	0.22531	0.035000	0.18076	0.019000	0.09904	1.675000	0.37555	-0.332000	0.08489	-0.367000	0.07326	GCA		0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11596726	G	T	11596726	3	4	61	1	0	0	0	0	1	0	0	0	12733	1087	38	5	4240	5	PTCHD2	1	11596726	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		11596726	237653895	1	3995											
RYR2	6262	broad.mit.edu	37	chr1	237948008	237948008	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgcagaactgttagcCaacatgccagaccccactca	14	7	7	13	0	1	2	1	0	0	2	1	2	1	2	4	0	5	3	4	0	4	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:237948008C>G	ENST00000366574.2	+	90	13313	c.12996C>G	c.(12994-12996)gcC>gcG	p.A4332A	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.A4338A|RYR2_ENST00000542537.1_Silent_p.A4316A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4332					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTAGCCAACATGCCAG	0.557																																						uc001hyl.1																			0		p.M4332I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12994-12996)gcC>gcG		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							73	71	72					1																	237948008		1941	4140	6081	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948008C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12996C>G	1.37:g.237948008C>G						RYR2_uc010pya.2_Silent_p.A747A	p.A4332A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	13116	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4332					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12996C>G	CCDS55691.1																																																																																				0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237948008	C	G	237948008	2	3	61	1	0	0	0	0	0	0	0	1	13769	581	21	5		5	RYR2	1	237948008	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	226351282	237948008	11302613	2	3996											
SMYD3	64754	broad.mit.edu	37	chr1	246027126	246027126	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgccttcagttcttcaatTtttttcagggattcttgaac	7	19	7	8	0	5	1	3	1	2	0	5	2	5	2	1	1	2	1	1	1	2	8			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:246027126T>G	ENST00000388985.4	-	9	875	c.876A>C	c.(874-876)aaA>aaC	p.K292N	SMYD3_ENST00000541742.1_Missense_Mutation_p.K233N|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Missense_Mutation_p.K233N			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	292					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GTTCTTCAATTTTTTTCAGGG	0.423																																						uc001ibl.3																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(874-876)aaA>aaC		Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.							185	163	171					1																	246027126		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246027126T>G	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.876A>C	1.37:g.246027126T>G	ENSP00000373637:p.Lys292Asn					SMYD3_uc001ibk.3_Missense_Mutation_p.K233N|SMYD3_uc001ibj.3_Missense_Mutation_p.K103N	p.K292N	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	8	1001	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	292					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.876A>C	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377677	0.24944	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	T;T;T;T	0.47177	1.85;1.85;1.86;0.85	5.66	0.617	0.17619	.	0.310802	0.33895	N	0.004451	T	0.28234	0.0697	N	0.24115	0.695	0.32649	N	0.519665	B;P	0.49447	0.01;0.924	B;B	0.43445	0.006;0.42	T	0.39396	-0.9616	10	0.19590	T	0.45	-40.8405	6.1908	0.20524	0.0:0.2632:0.1224:0.6144	.	292;103	Q9H7B4;B3KN46	SMYD3_HUMAN;.	N	233;233;122;292;103	ENSP00000444184:K233N;ENSP00000419184:K233N;ENSP00000373637:K292N;ENSP00000375712:K103N	ENSP00000373637:K292N	K	-	3	2	SMYD3	244093749	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	0.710000	0.25748	-0.134000	0.11516	-1.295000	0.01343	AAA		0.423	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		G	246027126	T	G	246027126	3	3	61	1	0	0	0	0	1	0	0	0	14823	1838	64	5	426	5	SMYD3	1	246027126	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	8079118	246027126	3223495	3	3997											
MYT1L	23040	broad.mit.edu	37	chr2	1812887	1812887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcagcatctgctctcCagaaagctttgccttcttca	8	13	8	12	0	5	1	2	0	3	1	6	2	5	1	2	1	4	3	2	1	1	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:1812887C>T	ENST00000399161.2	-	22	3880	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G1043R|MYT1L_ENST00000407844.1_Missense_Mutation_p.G41R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1045					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCTGCTCTCCAGAAAGCTTT	0.592																																						uc002qxe.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3133-3135)Gga>Aga		Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.							116	123	121					2																	1812887		2147	4245	6392	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1812887C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3133G>A	2.37:g.1812887C>T	ENSP00000382114:p.Gly1045Arg					MYT1L_uc002qxd.3_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.3_Missense_Mutation_p.G41R	p.G1045R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3960	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1045					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3133G>A		.	.	.	.	.	.	.	.	.	.	C	29.7	5.029396	0.93518	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.48201	0.82;1.62;0.82	5.24	5.24	0.73138	.	0.108901	0.64402	D	0.000007	T	0.63189	0.2490	M	0.62723	1.935	0.80722	D	1	P;D;D	0.63880	0.587;0.988;0.993	B;P;P	0.57776	0.221;0.676;0.827	T	0.64202	-0.6463	10	0.49607	T	0.09	-16.9142	18.8228	0.92105	0.0:1.0:0.0:0.0	.	41;1045;1043	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	R	1045;991;41;99;1043	ENSP00000382114:G1045R;ENSP00000382111:G99R;ENSP00000396103:G1043R	ENSP00000295067:G991R	G	-	1	0	MYT1L	1791894	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	4.754000	0.62191	2.439000	0.82584	0.655000	0.94253	GGA		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1812887	C	T	1812887	3	4	61	1	0	0	0	0	1	0	0	0	10107	603	21	3	443	3	MYT1L	2	1812887	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		1812887	241386486	4	3998											
LCT	3938	broad.mit.edu	37	chr2	136570155	136570155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgttttgtggggcGttgctgatgaggcgggaggt	5	12	20	4	2	0	2	0	2	0	0	0	3	0	3	0	6	2	4	0	6	0	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:136570155G>A	ENST00000264162.2	-	7	2089	c.2079C>T	c.(2077-2079)aaC>aaT	p.N693N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	693	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTTGTGGGGCGTTGCTGATGA	0.547																																						uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2077-2079)aaC>aaT		Homo sapiens lactase (LCT), mRNA.							98	92	94					2																	136570155		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570155G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2079C>T	2.37:g.136570155G>A							p.N693N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	2090	-			693			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.2079C>T	CCDS2178.1																																																																																				0.547	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136570155	G	A	136570155	2	1	61	1	0	0	0	0	0	0	0	1	8693	1136	40	1		1	LCT	2	136570155	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	134757268	136570155	106629218	5	3999											
OR5K4	403278	broad.mit.edu	37	chr3	98072858	98072858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatttatgtagagcgtcGtcttctcacaccaatgtaca	12	14	6	9	2	2	1	1	0	2	1	4	1	2	1	1	0	2	2	1	0	5	6	rs201188789		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:98072858G>A	ENST00000354924.2	+	1	161	c.161G>A	c.(160-162)cGt>cAt	p.R54H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTAGAGCGTCGTCTTCTCACA	0.473																																						uc011bgv.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(160-162)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	302	292	295		161	-4.7	0	3		295	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR5K4	NM_001005517.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	54/322	98072858	1,13005	2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072858G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.161G>A	3.37:g.98072858G>A	ENSP00000347003:p.Arg54His						p.R54H	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			0	161	+			54						Missense_Mutation	SNP	ENST00000354924.2	37	c.161G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.007308	0.00426	0.0	1.16E-4	ENSG00000196098	ENST00000354924	T	0.01139	5.28	4.77	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	0.261109	0.20108	N	0.099065	T	0.00754	0.0025	N	0.16233	0.39	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.46205	-0.9208	10	0.14252	T	0.57	-2.0386	12.2988	0.54862	0.6296:0.0:0.3704:0.0	.	54	A6NMS3	OR5K4_HUMAN	H	54	ENSP00000347003:R54H	ENSP00000347003:R54H	R	+	2	0	OR5K4	99555548	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-2.711000	0.00817	-1.018000	0.03363	-1.060000	0.02296	CGT		0.473	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			A	98072858	G	A	98072858	3	1	61	1	0	0	0	0	1	0	0	0	11169	1145	40	1	163	1	OR5K4	3	98072858	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		98072858	99949572	6	4000											
FSTL1	11167	broad.mit.edu	37	chr3	120122088	120122088	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttaggttaggcataCtcttctcaggagggttgaaa	10	15	10	6	0	3	1	1	1	3	0	4	2	3	2	0	4	1	3	0	4	5	7			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:120122088C>T	ENST00000295633.3	-	8	1051		c.e8+1		FSTL1_ENST00000424703.2_Splice_Site	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1						BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GTTAGGCATACTCTTCTCAGG	0.443																																						uc003eds.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.e8+1		Homo sapiens follistatin-like 1 (FSTL1), mRNA.							89	89	89					3																	120122088		2203	4300	6503	SO:0001630	splice_region_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120122088C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.694+1G>A	3.37:g.120122088C>T						FSTL1_uc011bjh.2_Splice_Site_p.K197_splice	p.K232_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	869	-			232					A8K523|B4DTT5|D3DN90|Q549Z0	Splice_Site	SNP	ENST00000295633.3	37	c.694_splice	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298981	0.81025	.	.	ENSG00000163430	ENST00000295633;ENST00000480823;ENST00000539471;ENST00000424703	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0158	0.89239	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL1	121604778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.408000	0.80041	2.937000	0.99478	0.650000	0.86243	.		0.443	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085	Intron	T	120122088	C	T	120122088	5	4	61	1	0	0	0	0	0	0	1	0	6077	579	20	3	247	3	FSTL1	3	120122088	Splice_Site	SNP	C	TCGA-06-0745-01A-01W-0348-08	22049230	120122088	77900342	7	4001											
CSN1S1	1446	broad.mit.edu	37	chr4	70810645	70810645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatcatgcagtatgttccTttcccaccgttttccgacat	9	14	5	13	2	1	0	1	0	0	0	4	1	4	0	4	0	1	4	4	0	2	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:70810645T>C	ENST00000246891.4	+	15	529	c.480T>C	c.(478-480)ccT>ccC	p.P160P	CSN1S1_ENST00000444405.3_Silent_p.P151P|CSN1S1_ENST00000507763.1_Silent_p.P151P|CSN1S1_ENST00000507772.1_Silent_p.P152P|CSN1S1_ENST00000505782.1_Silent_p.P144P	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	160						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGTATGTTCCTTTCCCACCGT	0.403																																						uc003hep.1																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(478-480)ccT>ccC		Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.							328	312	317					4																	70810645		1951	4140	6091	SO:0001819	synonymous_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70810645T>C	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.480T>C	4.37:g.70810645T>C						CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	p.P160P	NM_001890	NP_001881	P47710	CASA1_HUMAN			14	529	+			160					A1A510|A1A511|E9PB60|Q4PNR5	Silent	SNP	ENST00000246891.4	37	c.480T>C	CCDS47067.1																																																																																				0.403	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			C	70810645	T	C	70810645	2	2	61	1	0	0	0	0	0	0	0	1	3947	1596	56	4		4	CSN1S1	4	70810645	Silent	SNP	T	TCGA-06-0745-01A-01W-0348-08		70810645	120343631	8	4002											
SEC31A	22872	broad.mit.edu	37	chr4	83785658	83785658	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttttctgttacaacctGactaatgaacacatggtgct	10	14	6	11	0	1	2	0	2	1	0	2	2	2	2	2	1	4	2	2	1	4	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:83785658G>A	ENST00000395310.2	-	11	1473	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q426*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q203*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q431*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	431	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTACAACCTGACTAATGAAC	0.438																																						uc003hnh.3																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1291-1293)Cag>Tag		Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.							128	123	125					4																	83785658		2203	4300	6503	SO:0001587	stop_gained	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785658G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1291C>T	4.37:g.83785658G>A	ENSP00000378721:p.Gln431*					SEC31A_uc003hne.3_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.2_Nonsense_Mutation_p.Q426*|SEC31A_uc003hni.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnf.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.3_Nonsense_Mutation_p.Q431*	p.Q431*	NM_014933	NP_055748	O94979	SC31A_HUMAN			10	1471	-		Hepatocellular(203;0.114)	431			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	c.1291C>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.920247|5.920247	0.97105|0.97105	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828	.|T	.|0.20881	.|2.04	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.47154	.|0.1430	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44190	.|-0.9344	.|5	0.87932|0.66056	D|D	0|0.02	-8.2865|-8.2865	19.593|19.593	0.95523|0.95523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	431;431;431;426;431;431;431;431;431;431;431;431;431;203;431;431;32|73	.|ENSP00000426562:S73L	ENSP00000264405:Q203X|ENSP00000426562:S73L	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	84004682|84004682	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.008000|0.008000	0.06430|0.06430	9.847000|9.847000	0.99503|0.99503	2.618000|2.618000	0.88619|0.88619	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.438	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		A	83785658	G	A	83785658	4	1	61	1	0	0	0	0	0	1	0	0	13998	1299	45	3	2439	3	SEC31A	4	83785658	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	12975013	83785658	107368618	9	4003											
MAST4	375449	broad.mit.edu	37	chr5	66416900	66416900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaaagtgattttgaaaCgattaaattgattagcaatg	15	13	10	3	2	0	3	0	3	0	0	1	5	0	4	0	1	2	1	0	1	6	5	rs367779827		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:66416900C>T	ENST00000403625.2	+	14	2010	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	MAST4_ENST00000403666.1_Missense_Mutation_p.T383M|MAST4_ENST00000404260.3_Missense_Mutation_p.T575M|MAST4_ENST00000405643.1_Missense_Mutation_p.T393M|MAST4_ENST00000261569.7_Missense_Mutation_p.T378M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	575						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATTTTGAAACGATTAAATTG	0.328																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(1714-1716)aCg>aTg		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.		C	MET/THR,MET/THR	0,3622		0,0,1811	62	58	60		1715,1148	5.7	1	5		60	1,8141		0,1,4070	no	missense,missense	MAST4	NM_001164664.1,NM_015183.2	81,81	0,1,5881	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging,probably-damaging	572/2624,383/2435	66416900	1,11763	1811	4071	5882	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66416900C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1715C>T	5.37:g.66416900C>T	ENSP00000385727:p.Thr572Met					MAST4_uc003jut.2_Missense_Mutation_p.T383M|MAST4_uc003juu.1_Missense_Mutation_p.T393M|MAST4_uc011cra.1_Missense_Mutation_p.T366M|MAST4_uc003juv.2_Missense_Mutation_p.T378M|MAST4_uc003juw.3_Missense_Mutation_p.T378M	p.T572M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	13	2023	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	575					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1715C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529526	0.64860	0.0	1.23E-4	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047619	0.85682	D	0.000000	T	0.40619	0.1124	L	0.31926	0.97	0.41967	D	0.990737	P;D;D;P	0.69078	0.902;0.986;0.997;0.881	P;P;P;P	0.62014	0.487;0.85;0.897;0.474	T	0.11641	-1.0579	10	0.52906	T	0.07	-15.4935	19.8448	0.96704	0.0:1.0:0.0:0.0	.	393;575;378;383	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	M	575;572;383;393;393;378;378	ENSP00000385048:T575M;ENSP00000385727:T572M;ENSP00000384313:T383M;ENSP00000384099:T393M;ENSP00000261569:T378M	ENSP00000261569:T378M	T	+	2	0	MAST4	66452656	0.998000	0.40836	0.964000	0.40570	0.984000	0.73092	3.626000	0.54245	2.686000	0.91538	0.650000	0.86243	ACG		0.328	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66416900	C	T	66416900	3	4	61	1	0	0	0	0	1	0	0	0	9327	536	19	1	1899	1	MAST4	5	66416900	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		66416900	114498360	10	4004											
GPR98	84059	broad.mit.edu	37	chr5	89981650	89981650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactattgcgcaactaattAtcattgccaatgatgatgca	15	12	6	8	1	1	2	1	2	0	0	1	2	1	2	1	0	5	2	1	0	6	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:89981650A>G	ENST00000405460.2	+	29	6424	c.6328A>G	c.(6328-6330)Atc>Gtc	p.I2110V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2110	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAACTAATTATCATTGCCAA	0.413																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6328-6330)Atc>Gtc		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							116	103	107					5																	89981650		1917	4130	6047	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981650A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6328A>G	5.37:g.89981650A>G	ENSP00000384582:p.Ile2110Val					GPR98_uc003kjt.3_5'UTR	p.I2110V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6424	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2110					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6328A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888617	0.33348	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.49720	0.77	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.100570	0.64402	D	0.000002	T	0.59280	0.2182	M	0.70275	2.135	0.80722	D	1	P	0.41366	0.747	P	0.47786	0.557	T	0.63462	-0.6632	10	0.72032	D	0.01	.	16.1416	0.81528	1.0:0.0:0.0:0.0	.	2110	Q8WXG9	GPR98_HUMAN	V	2110	ENSP00000384582:I2110V	ENSP00000296619:I2110V	I	+	1	0	GPR98	90017406	1.000000	0.71417	0.138000	0.22173	0.247000	0.25773	5.980000	0.70516	2.209000	0.71365	0.482000	0.46254	ATC		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89981650	A	G	89981650	3	3	61	1	0	0	0	0	1	0	0	0	6721	449	16	4	6442	4	GPR98	5	89981650	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08	23564750	89981650	90933610	11	4005											
PCDHB3	56132	broad.mit.edu	37	chr5	140481632	140481632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgagaacaacagccccGccctgcacatcggcagtgtc	9	5	10	17	4	0	1	0	0	0	1	3	2	1	1	4	1	4	2	4	1	2	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140481632G>A	ENST00000231130.2	+	1	1399	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.622																																						uc003lio.3																			0		p.P466H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1399-1401)Gcc>Acc		Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.							80	81	81					5																	140481632		2203	4296	6499	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481632G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1399G>A	5.37:g.140481632G>A	ENSP00000231130:p.Ala467Thr					BC016751_uc003lin.3_Intron	p.A467T	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1399	+			467			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1399G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851357	0.91355	.	.	ENSG00000113205	ENST00000231130	T	0.60548	0.18	4.22	4.22	0.49857	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68769	0.3037	L	0.41710	1.295	0.44595	D	0.997562	D	0.89917	1.0	D	0.97110	1.0	T	0.73500	-0.3963	9	0.87932	D	0	.	16.6333	0.85039	0.0:0.0:1.0:0.0	.	467	Q9Y5E6	PCDB3_HUMAN	T	467	ENSP00000231130:A467T	ENSP00000231130:A467T	A	+	1	0	PCDHB3	140461816	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	3.820000	0.55693	2.080000	0.62538	0.558000	0.71614	GCC		0.622	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140481632	G	A	140481632	3	1	61	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1401	1	PCDHB3	5	140481632	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	50499982	140481632	40433628	12	4006											
PCDHB13	56123	broad.mit.edu	37	chr5	140595599	140595599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgagcgagcgcgacgCggccaagcacaggctggtgg	7	4	18	12	5	0	1	0	1	0	0	0	3	0	1	1	4	4	4	1	4	1	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140595599C>T	ENST00000341948.4	+	1	2091	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGCGACGCGGCCAAGCAC	0.692																																						uc003lja.1																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1903-1905)gCg>gTg		Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.							17	19	18					5																	140595599		1671	3486	5157	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595599C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1904C>T	5.37:g.140595599C>T	ENSP00000345491:p.Ala635Val						p.A635V	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2091	+			635			Cadherin 6.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1904C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	10.97	1.502797	0.26949	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51325	0.71	3.6	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31606	0.0802	L	0.28608	0.87	0.09310	N	1	B	0.22683	0.073	B	0.21360	0.034	T	0.20907	-1.0261	9	0.38643	T	0.18	.	4.4303	0.11524	0.0:0.5883:0.1877:0.2241	.	635	Q9Y5F0	PCDBD_HUMAN	V	635;635;581	ENSP00000345491:A635V	ENSP00000345491:A635V	A	+	2	0	PCDHB13	140575783	0.000000	0.05858	0.726000	0.30738	0.729000	0.41735	-0.285000	0.08410	0.478000	0.27488	0.298000	0.19748	GCG		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140595599	C	T	140595599	3	4	61	1	0	0	0	0	1	0	0	0	11538	768	27	1	1906	1	PCDHB13	5	140595599	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	113967	140595599	40319661	13	4007											
SNX9	51429	broad.mit.edu	37	chr6	158342573	158342573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcttgcaggccgctttgaAgaggaatttatcaaaatgcg	11	11	11	8	3	1	2	1	1	0	1	2	3	1	3	1	2	2	3	1	2	5	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr6:158342573A>T	ENST00000392185.3	+	10	1131	c.960A>T	c.(958-960)gaA>gaT	p.E320D		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	320	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCCGCTTTGAAGAGGAATTTA	0.423																																						uc003qqv.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(958-960)gaA>gaT		Homo sapiens sorting nexin 9 (SNX9), mRNA.							83	81	82					6																	158342573		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158342573A>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.960A>T	6.37:g.158342573A>T	ENSP00000376024:p.Glu320Asp						p.E320D	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	9	1133	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	320			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.960A>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187622	0.57909	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.27557	1.66	5.4	3.06	0.35304	Phox homologous domain (5);	0.123923	0.64402	D	0.000017	T	0.06735	0.0172	N	0.05330	-0.07	0.80722	D	1	B	0.26547	0.152	B	0.22880	0.042	T	0.07888	-1.0749	10	0.59425	D	0.04	-32.6664	7.1632	0.25675	0.7571:0.0:0.2429:0.0	.	320	Q9Y5X1	SNX9_HUMAN	D	320;320;120	ENSP00000376024:E320D	ENSP00000252631:E120D	E	+	3	2	SNX9	158262561	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.531000	0.36018	2.527000	0.85204	0.462000	0.41574	GAA		0.423	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			T	158342573	A	T	158342573	3	4	61	1	0	0	0	0	1	0	0	0	14909	69	3	5	998	5	SNX9	6	158342573	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		158342573	12772494	14	4008											
FTSJ2	29960	broad.mit.edu	37	chr7	2281798	2281798	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcagcgcccagctcaccCcgccattggtgttccccgcg	5	6	11	19	4	1	0	1	0	0	0	2	0	2	0	6	1	3	4	6	1	0	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:2281798C>T	ENST00000242257.8	-	1	35	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	NUDT1_ENST00000356714.1_5'Flank|NUDT1_ENST00000339737.2_5'Flank|FTSJ2_ENST00000440306.2_Splice_Site_p.G3R|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000397049.1_5'Flank|NUDT1_ENST00000343985.4_5'Flank|FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)											endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCAGCTCACCCCGCCATTGGT	0.736																																						uc003slm.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.e1+1		Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.							8	13	11					7																	2281798		2083	4146	6229	SO:0001630	splice_region_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2281798C>T	AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"rRNA (uridine-2'-O-)-methyltransferase", "MRM2 RNA methyltransferase homolog (S. cerevisiae)"	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.8+1G>A	7.37:g.2281798C>T						FTSJ2_uc003sln.3_Splice_Site|FTSJ2_uc003slo.3_Splice_Site|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	p.G3_splice	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	1	37	-		Ovarian(82;0.0253)	3						Missense_Mutation	SNP	ENST00000242257.8	37	c.8_splice	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	C	1.861	-0.462601	0.04508	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.42900	0.96;1.55	1.98	-0.117	0.13551	.	1.075520	0.07404	N	0.891302	T	0.14098	0.0341	N	0.02736	-0.51	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26467	-1.0102	10	0.05525	T	0.97	0.4709	3.437	0.07449	0.0:0.5601:0.2656:0.1743	.	3	Q9UI43	RRMJ2_HUMAN	R	3	ENSP00000242257:G3R;ENSP00000392343:G3R	ENSP00000242257:G3R	G	-	1	0	FTSJ2	2248324	0.001000	0.12720	0.147000	0.22382	0.340000	0.28889	-0.910000	0.04054	-0.043000	0.13513	0.561000	0.74099	GGG		0.736	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393	Missense_Mutation	T	2281798	C	T	2281798	5	4	61	1	0	0	0	0	0	0	1	0	6088	637	22	3	745	3	FTSJ2	7	2281798	Splice_Site	SNP	C	TCGA-06-0745-01A-01W-0348-08		2281798	156856865	15	4009											
COL28A1	340267	broad.mit.edu	37	chr7	7412882	7412882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcatcttcaaacatgtcGttggctgcttgcagagcagt	8	13	10	10	1	2	1	1	0	1	1	3	1	2	1	0	1	5	6	0	1	1	4	rs368864863		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:7412882G>A	ENST00000399429.3	-	32	2795	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	885	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAAACATGTCGTTGGCTGCTT	0.488																																						uc003src.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2653-2655)aaC>aaT		Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.		G		0,4038		0,0,2019	92	87	89		2655	-3.8	0	7		89	1,8361		0,1,4180	no	coding-synonymous	COL28A1	NM_001037763.2		0,1,6199	AA,AG,GG		0.012,0.0,0.0081		885/1126	7412882	1,12399	2019	4181	6200	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412882G>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2655C>T	7.37:g.7412882G>A						COL28A1_uc011jxe.1_Silent_p.N568N	p.N885N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	31	2772	-		Ovarian(82;0.0789)	885			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2655C>T	CCDS43553.1																																																																																				0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		A	7412882	G	A	7412882	2	1	61	1	0	0	0	0	0	0	0	1	3686	1136	40	1		1	COL28A1	7	7412882	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	5131084	7412882	151725781	16	4010											
ABCB1	5243	broad.mit.edu	37	chr7	87190619	87190619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccaaatgcaatcacagTtctaattgctgccaagacct	12	11	5	13	0	2	1	1	0	1	1	4	1	4	1	4	0	3	3	4	0	4	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:87190619T>A	ENST00000265724.3	-	9	1204	c.787A>T	c.(787-789)Act>Tct	p.T263S	ABCB1_ENST00000543898.1_Missense_Mutation_p.T199S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	263	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCAATCACAGTTCTAATTGCT	0.343																																						uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(787-789)Act>Tct		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						82	82	82					7																	87190619		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190619T>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.787A>T	7.37:g.87190619T>A	ENSP00000265724:p.Thr263Ser					ABCB1_uc011khc.2_Missense_Mutation_p.T199S	p.T263S	NM_000927	NP_000918	P08183	MDR1_HUMAN			8	1280	-	Esophageal squamous(14;0.00164)		263			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.787A>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	31	5.091172	0.94149	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94092	-3.35;-3.35	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.95224	3.64	0.80722	D	1	D;B	0.76494	0.999;0.237	D;B	0.64595	0.927;0.254	D	0.98710	1.0704	10	0.87932	D	0	-27.941	16.0292	0.80564	0.0:0.0:0.0:1.0	.	199;263	B5AK60;P08183	.;MDR1_HUMAN	S	44;263;199	ENSP00000265724:T263S;ENSP00000444095:T199S	ENSP00000265724:T263S	T	-	1	0	ABCB1	87028555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.187000	0.69744	0.533000	0.62120	ACT		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87190619	T	A	87190619	3	1	61	1	0	0	0	0	1	0	0	0	40	1725	60	5	3139	5	ABCB1	7	87190619	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	79777737	87190619	71948044	17	4011											
DLD	1738	broad.mit.edu	37	chr7	107557761	107557761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctggtccaatgctggctCacaaagcagaggatgaaggc	11	8	13	9	0	1	2	1	1	0	1	2	3	2	3	1	4	3	4	1	4	3	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:107557761C>T	ENST00000205402.5	+	11	1371	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	DLD_ENST00000537148.1_Missense_Mutation_p.H265Y|DLD_ENST00000437604.2_Missense_Mutation_p.H316Y|DLD_ENST00000440410.1_Missense_Mutation_p.H341Y	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	364					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AATGCTGGCTCACAAAGCAGA	0.428																																						uc003vet.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(1090-1092)Cac>Tac		Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	NADH(DB00157)						255	214	228					7																	107557761		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107557761C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.1090C>T	7.37:g.107557761C>T	ENSP00000205402:p.His364Tyr					DLD_uc011kmg.2_Missense_Mutation_p.H316Y|DLD_uc011kmh.2_Missense_Mutation_p.H341Y|DLD_uc011kmi.2_Missense_Mutation_p.H265Y	p.H364Y	NM_000108	NP_000099	P09622	DLDH_HUMAN			10	1200	+			364					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.1090C>T	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096727	0.94197	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.72394	-0.63;-0.63;-0.5;-0.65;-0.63	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.88786	0.3274	10	0.87932	D	0	-13.4975	20.3151	0.98650	0.0:1.0:0.0:0.0	.	341;316;364	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	Y	364;364;265;341;316;314	ENSP00000205402:H364Y;ENSP00000390667:H364Y;ENSP00000442399:H265Y;ENSP00000417016:H341Y;ENSP00000387542:H316Y	ENSP00000205402:H364Y	H	+	1	0	DLD	107344997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	CAC		0.428	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		T	107557761	C	T	107557761	3	4	61	1	0	0	0	0	1	0	0	0	4551	826	29	3	1132	3	DLD	7	107557761	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	20367142	107557761	51580902	18	4012											
TFEC	22797	broad.mit.edu	37	chr7	115582025	115582025	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctcgggctctctgttgTtctttttgtagccacttgat	5	19	8	9	1	3	1	0	1	3	0	5	1	3	1	1	1	1	4	1	1	2	7			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:115582025T>C	ENST00000265440.7	-	7	765	c.585A>G	c.(583-585)gaA>gaG	p.E195E	TFEC_ENST00000320239.7_Silent_p.E166E|TFEC_ENST00000484212.1_Silent_p.E285E|TFEC_ENST00000393485.1_Silent_p.E166E|TFEC_ENST00000457268.1_Silent_p.E128E	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	195					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTCTGTTGTTCTTTTTGTA	0.408																																						uc003vhj.2																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(583-585)gaA>gaG		Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.							212	203	206					7																	115582025		2203	4300	6503	SO:0001819	synonymous_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115582025T>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.585A>G	7.37:g.115582025T>C						TFEC_uc003vhm.2_Silent_p.E128E|TFEC_uc003vhk.2_Silent_p.E166E|TFEC_uc003vhl.4_Silent_p.E166E|TFEC_uc011kmw.2_Silent_p.E285E	p.E195E	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		6	838	-			195					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	ENST00000265440.7	37	c.585A>G	CCDS5762.1																																																																																				0.408	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		C	115582025	T	C	115582025	2	2	61	1	0	0	0	0	0	0	0	1	15799	1722	60	4		4	TFEC	7	115582025	Silent	SNP	T	TCGA-06-0745-01A-01W-0348-08	8024264	115582025	43556638	19	4013											
MYOM2	9172	broad.mit.edu	37	chr8	2092880	2092880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccaagctcatccccgCgtctgcctcagcggcaggcc	7	5	10	19	3	3	0	2	0	1	0	4	0	4	0	5	2	4	2	5	2	2	0	rs562106463		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:2092880C>T	ENST00000262113.4	+	37	4514	c.4373C>T	c.(4372-4374)gCg>gTg	p.A1458V	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.A883V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1458					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCATCCCCGCGTCTGCCTCA	0.587													C|||	1	0.000199681	0	0	5008	,	,		18948	0.001		0	False		,,,				2504	0					uc003wpx.4																			0		p.P1457P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(4372-4374)gCg>gTg		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							51	48	49					8																	2092880		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092880C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4373C>T	8.37:g.2092880C>T	ENSP00000262113:p.Ala1458Val					MYOM2_uc011kwi.2_Missense_Mutation_p.A883V	p.A1458V	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	36	4511	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1458					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4373C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988734	0.74589	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.52754	0.65;0.82	5.35	5.35	0.76521	.	0.055120	0.64402	D	0.000001	T	0.29093	0.0723	N	0.08118	0	0.41169	D	0.986158	P	0.52692	0.955	B	0.36378	0.223	T	0.36212	-0.9757	10	0.59425	D	0.04	.	19.4438	0.94838	0.0:1.0:0.0:0.0	.	1458	P54296	MYOM2_HUMAN	V	1458;883	ENSP00000262113:A1458V;ENSP00000428396:A883V	ENSP00000262113:A1458V	A	+	2	0	MYOM2	2080287	0.979000	0.34478	0.127000	0.21898	0.029000	0.11900	5.893000	0.69798	2.655000	0.90218	0.655000	0.94253	GCG		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2092880	C	T	2092880	3	4	61	1	0	0	0	0	1	0	0	0	10092	768	27	1	4515	1	MYOM2	8	2092880	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		2092880	144271142	20	4014											
RB1CC1	9821	broad.mit.edu	37	chr8	53573548	53573548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catataatctctttccatctTtgactaaagcaccagcccac	12	12	3	14	0	2	1	0	1	2	0	4	1	3	1	3	0	2	1	3	0	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:53573548T>C	ENST00000025008.5	-	11	2088	c.1565A>G	c.(1564-1566)aAa>aGa	p.K522R	RB1CC1_ENST00000539297.1_Missense_Mutation_p.K522R|RB1CC1_ENST00000435644.2_Missense_Mutation_p.K522R|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	522					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTTCCATCTTTGACTAAAGC	0.284																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			0		p.K522K(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1564-1566)aAa>aGa		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							65	61	62					8																	53573548		2202	4297	6499	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573548T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1565A>G	8.37:g.53573548T>C	ENSP00000025008:p.Lys522Arg					RB1CC1_uc003xrf.4_Missense_Mutation_p.K522R	p.K522R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			10	2123	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	522					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1565A>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610174	0.28712	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15487	2.43;2.42;2.42	5.65	4.48	0.54585	.	0.116039	0.64402	D	0.000020	T	0.14614	0.0353	L	0.51422	1.61	0.46356	D	0.999008	B;B	0.14805	0.011;0.007	B;B	0.17098	0.017;0.007	T	0.04103	-1.0977	10	0.07482	T	0.82	-30.0585	11.8721	0.52527	0.0:0.0698:0.0:0.9302	.	522;522	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	R	522	ENSP00000025008:K522R;ENSP00000396067:K522R;ENSP00000445960:K522R	ENSP00000025008:K522R	K	-	2	0	RB1CC1	53736101	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.808000	0.47963	2.147000	0.66899	0.377000	0.23210	AAA		0.284	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		C	53573548	T	C	53573548	3	2	61	1	0	0	0	0	1	0	0	0	13099	1841	64	4	3275	4	RB1CC1	8	53573548	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	51480668	53573548	92790474	21	4015											
C8orf34	116328	broad.mit.edu	37	chr8	69381052	69381052	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccttgagaatctctctCgaagtaagttcatttacttg	11	14	7	9	1	3	1	1	1	2	1	5	3	3	1	1	0	2	2	1	0	5	6			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:69381052C>T	ENST00000539993.1	+	4	1024	c.475C>T	c.(475-477)Cga>Tga	p.R159*	C8orf34_ENST00000348340.2_Nonsense_Mutation_p.R159*|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.R134*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.R245*|C8orf34_ENST00000349492.3_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	159										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAATCTCTCTCGAAGTAAGTT	0.393																																						uc010lyz.3																			0		p.E245Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(733-735)Cga>Tga		Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.							67	64	65					8																	69381052		2203	4300	6503	SO:0001587	stop_gained	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69381052C>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.475C>T	8.37:g.69381052C>T	ENSP00000438159:p.Arg159*					C8orf34_uc010lyy.2_Nonsense_Mutation_p.R245*|C8orf34_uc003xyb.3_Nonsense_Mutation_p.R134*	p.R245*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	1024	+			159					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37	c.733C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.735948	0.99251	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	.	.	.	5.51	3.45	0.39498	.	0.057733	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9785	15.5875	0.76495	0.2789:0.7211:0.0:0.0	.	.	.	.	X	245;159;159;134	.	.	R	+	1	2	C8orf34	69543606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.763000	0.55257	1.254000	0.44035	0.591000	0.81541	CGA		0.393	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		T	69381052	C	T	69381052	4	4	61	1	0	0	0	0	0	1	0	0	2422	876	31	2	410	2	C8orf34	8	69381052	Nonsense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	15807504	69381052	76982970	22	4016											
FAM135B	51059	broad.mit.edu	37	chr8	139164211	139164211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggccctgctggttgtcaGcatctaaaactatctccacc	8	10	9	14	1	3	0	1	0	2	0	4	0	3	0	3	3	3	3	3	3	3	3	rs202046414		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:139164211G>C	ENST00000395297.1	-	13	2677	c.2507C>G	c.(2506-2508)gCt>gGt	p.A836G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	836										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGGTTGTCAGCATCTAAAAC	0.522										HNSCC(54;0.14)																												uc003yuy.3																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2506-2508)gCt>gGt		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							94	84	87					8																	139164211		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164211G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2507C>G	8.37:g.139164211G>C	ENSP00000378710:p.Ala836Gly	HNSCC(54;0.14)				FAM135B_uc003yux.3_Missense_Mutation_p.A737G|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.A398G|FAM135B_uc003yvb.3_Missense_Mutation_p.A398G	p.A836G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	2678	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		836					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2507C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.389	1.074903	0.20227	.	.	ENSG00000147724	ENST00000395297	T	0.15952	2.38	5.53	4.65	0.58169	.	0.829218	0.11223	N	0.586480	T	0.16041	0.0386	L	0.32530	0.975	0.09310	N	0.999999	B;B;B	0.16802	0.019;0.008;0.001	B;B;B	0.19946	0.027;0.015;0.002	T	0.21143	-1.0254	10	0.31617	T	0.26	-3.159	13.4611	0.61227	0.0:0.1571:0.8429:0.0	.	836;836;836	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	G	836	ENSP00000378710:A836G	ENSP00000276737:A836G	A	-	2	0	FAM135B	139233393	0.001000	0.12720	0.092000	0.20876	0.045000	0.14185	1.016000	0.29976	1.314000	0.45095	-0.176000	0.13171	GCT		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139164211	G	C	139164211	3	2	61	1	0	0	0	0	1	0	0	0	5449	971	34	5	1745	5	FAM135B	8	139164211	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	69783159	139164211	7199811	23	4017											
FAM120A	23196	broad.mit.edu	37	chr9	96294445	96294445	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgcaaagggtgaaatCaaaattgctgtttctattga	13	14	8	6	0	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	5	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:96294445C>A	ENST00000277165.6	+	10	1937	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	FAM120A_ENST00000340893.4_Silent_p.I581I|FAM120A_ENST00000333936.5_Silent_p.I609I|FAM120A_ENST00000475933.1_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	581						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGGTGAAATCAAAATTGCTG	0.393																																						uc004atw.3																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1741-1743)atC>atA		Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.							130	141	137					9																	96294445		2203	4300	6503	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96294445C>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1743C>A	9.37:g.96294445C>A						FAM120A_uc004atx.3_Silent_p.I363I|FAM120A_uc004aty.3_Silent_p.I362I|FAM120A_uc004atz.3_Silent_p.I230I|FAM120A_uc010mrg.3_5'UTR	p.I581I	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			9	1768	+			581					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.1743C>A	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013318	0.19277	.	.	ENSG00000048828	ENST00000446420	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.545	9.7831	0.40660	0.0:0.7863:0.1411:0.0726	.	.	.	.	X	424	.	.	S	+	2	0	FAM120A	95334266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.093000	0.30939	2.725000	0.93324	0.655000	0.94253	TCA		0.393	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		A	96294445	C	A	96294445	2	1	61	1	0	0	0	0	0	0	0	1	5415	816	29	5		5	FAM120A	9	96294445	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08		96294445	44918986	24	4018											
QRFP	347148	broad.mit.edu	37	chr9	133768879	133768879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccattgagctcctcaGccaggttccctaacgggccg	7	9	11	14	2	1	1	1	1	0	0	3	1	3	1	5	2	4	3	5	2	2	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:133768879G>A	ENST00000343079.1	-	1	346	c.347C>T	c.(346-348)gCt>gTt	p.A116V		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GAGCTCCTCAGCCAGGTTCCC	0.632																																						uc011mcb.2																			0				cervix(1)|endometrium(3)|lung(1)|skin(2)	7						c.(346-348)gCt>gTt		Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.							56	65	62					9																	133768879		2203	4300	6503	SO:0001583	missense	347148				locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding	g.chr9:133768879G>A	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"Endogenous ligands"	29982	protein-coding gene	gene with protein product	"prepro-QRFP"	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.347C>T	9.37:g.133768879G>A	ENSP00000345487:p.Ala116Val						p.A116V	NM_198180	NP_937823	P83859	OX26_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)	0	347	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	116						Missense_Mutation	SNP	ENST00000343079.1	37	c.347C>T	CCDS6936.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847429	0.91277	.	.	ENSG00000188710	ENST00000343079	T	0.57436	0.4	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000039	T	0.72542	0.3473	M	0.73962	2.25	0.49798	D	0.999825	D	0.89917	1.0	D	0.97110	1.0	T	0.77289	-0.2643	10	0.87932	D	0	-6.6114	16.6221	0.84933	0.0:0.0:1.0:0.0	.	116	P83859	OX26_HUMAN	V	116	ENSP00000345487:A116V	ENSP00000345487:A116V	A	-	2	0	QRFP	132758700	1.000000	0.71417	0.918000	0.36340	0.841000	0.47740	4.828000	0.62730	2.233000	0.73108	0.462000	0.41574	GCT		0.632	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180		A	133768879	G	A	133768879	3	1	61	1	0	0	0	0	1	0	0	0	12877	971	34	3	66	3	QRFP	9	133768879	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	37474434	133768879	7444552	25	4019											
EGR2	1959	broad.mit.edu	37	chr10	64574066	64574066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcacaatattgattatgCcttctgggtagcagctggca	10	12	9	10	0	2	1	1	1	1	0	2	1	2	1	1	2	3	4	1	2	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:64574066C>G	ENST00000242480.3	-	2	657	c.332G>C	c.(331-333)gGc>gCc	p.G111A	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.G111A|EGR2_ENST00000411732.1_Missense_Mutation_p.G61A	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	111					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATTGATTATGCCTTCTGGGTA	0.547																																						uc010qio.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(370-372)gGc>gCc		Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.							168	149	155					10																	64574066		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64574066C>G	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.332G>C	10.37:g.64574066C>G	ENSP00000242480:p.Gly111Ala					EGR2_uc010qim.2_Missense_Mutation_p.G111A|EGR2_uc010qin.2_Missense_Mutation_p.G61A|EGR2_uc001jmi.3_Missense_Mutation_p.G111A|EGR2_uc009xph.3_Missense_Mutation_p.G111A	p.G124A	NM_001136179	NP_001129651	P11161	EGR2_HUMAN			2	391	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		111					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.371G>C	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803444	0.90623	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.24538	1.85;1.85;1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.67103	0.949;0.866	T	0.30909	-0.9962	10	0.33141	T	0.24	-24.1494	19.1024	0.93279	0.0:1.0:0.0:0.0	.	61;111	P11161-2;P11161	.;EGR2_HUMAN	A	111;111;61;124	ENSP00000242480:G111A;ENSP00000402040:G111A;ENSP00000387634:G61A	ENSP00000242480:G111A	G	-	2	0	EGR2	64244072	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	2.187000	0.42602	2.592000	0.87571	0.563000	0.77884	GGC		0.547	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		G	64574066	C	G	64574066	3	3	61	1	0	0	0	0	1	0	0	0	4972	739	26	5	1102	5	EGR2	10	64574066	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		64574066	70960681	26	4020											
ATE1	11101	broad.mit.edu	37	chr10	123683779	123683779	+	Splice_Site	DEL	A	A	-																															tctttgtatctggaagctttAccttcgccatcctcggtcta																										TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:123683779delA	ENST00000224652.6	-	2	256		c.e2+1		ATE1_ENST00000369040.3_Intron|ATE1_ENST00000543447.1_Splice_Site|ATE1_ENST00000369043.3_Splice_Site|ATE1_ENST00000540606.1_Splice_Site|ATE1_ENST00000535655.1_Splice_Site	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAAGCTTTACCTTCGCCAT	0.413																																						uc001lfp.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e2+1		Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.							183	164	170					10																	123683779		2203	4300	6503	SO:0001630	splice_region_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123683779delA	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.170+1T>-	10.37:g.123683779delA						ATE1_uc001lfq.3_Splice_Site_p.R57_splice|ATE1_uc010qtr.2_Splice_Site|ATE1_uc010qts.2_Intron|ATE1_uc010qtt.2_Splice_Site_p.R50_splice|ATE1_uc001lfr.3_Splice_Site|ATE1_uc009xzu.3_Intron	p.R57_splice	NM_007041	NP_008972	O95260	ATE1_HUMAN			2	252	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	57					O95261|Q5SQQ3|Q8WW04	Splice_Site	DEL	ENST00000224652.6	37	c.170_splice	CCDS31300.1																																																																																				0.413	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Intron	-	123683779	A	-	123683779	8	5	61	1	0	1	0	1	0	0	1	0	1078	405	14	0	1561	0	ATE1	10	123683779	Splice_Site	DEL	A	TCGA-06-0745-01A-01W-0348-08	59109713	123683779	11850968	27	4021											
ART1	417	broad.mit.edu	37	chr11	3681476	3681476	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaggaagaggtgctgAtccccccctttgagaccttc	8	9	12	12	0	0	4	0	2	0	3	2	7	1	5	4	3	1	1	4	3	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:3681476A>T	ENST00000250693.1	+	3	828	c.727A>T	c.(727-729)Atc>Ttc	p.I243F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	243					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGAGGTGCTGATCCCCCCCTT	0.607																																						uc001lye.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(727-729)Atc>Ttc		Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	Becaplermin(DB00102)						50	51	51					11																	3681476		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681476A>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.727A>T	11.37:g.3681476A>T	ENSP00000250693:p.Ile243Phe					ART1_uc009yeb.1_Missense_Mutation_p.I243F	p.I243F	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	2	828	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	243					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.727A>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977173	0.74360	.	.	ENSG00000129744	ENST00000250693	T	0.21031	2.03	5.21	5.21	0.72293	.	0.046800	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81112	2.525	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.50065	-0.8871	9	.	.	.	.	13.0201	0.58781	1.0:0.0:0.0:0.0	.	243	P52961	NAR1_HUMAN	F	243	ENSP00000250693:I243F	.	I	+	1	0	ART1	3638052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.920000	0.63390	1.964000	0.57103	0.460000	0.39030	ATC		0.607	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		T	3681476	A	T	3681476	3	4	61	1	0	0	0	0	1	0	0	0	997	333	12	5	733	5	ART1	11	3681476	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		3681476	131325040	28	4022											
KIF18A	81930	broad.mit.edu	37	chr11	28058009	28058009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaaggttactgtagaCggattttgaaaagcttttct	11	17	8	5	1	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	5	8	rs575102434		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:28058009C>T	ENST00000263181.6	-	14	2441	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	717					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTACTGTAGACGGATTTTGAA	0.363																																						uc001msc.2																			0		p.N716Y(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(2149-2151)ccG>ccA		Homo sapiens kinesin family member 18A (KIF18A), mRNA.							121	122	122					11																	28058009		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058009C>T	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2151G>A	11.37:g.28058009C>T							p.P717P	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			13	2333	-			717					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2151G>A	CCDS7867.1																																																																																				0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		T	28058009	C	T	28058009	2	4	61	1	0	0	0	0	0	0	0	1	8280	523	19	1		1	KIF18A	11	28058009	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	24376533	28058009	106948507	29	4023											
AHNAK	79026	broad.mit.edu	37	chr11	62298733	62298733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggcatcttaaacttcggGcctttcaacttcccttcagg	8	13	7	13	1	4	0	3	0	1	0	6	0	5	0	2	3	2	1	2	3	3	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:62298733G>A	ENST00000378024.4	-	5	3430	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1052					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTCGGGCCTTTCAACT	0.443																																						uc001ntl.3																			0		p.K1051K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3154-3156)ggC>ggT		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							92	91	91					11																	62298733		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62298733G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3156C>T	11.37:g.62298733G>A						AHNAK_uc001ntk.1_Intron	p.G1052G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	3456	-		Melanoma(852;0.155)	1052					A1A586	Silent	SNP	ENST00000378024.4	37	c.3156C>T	CCDS31584.1																																																																																				0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62298733	G	A	62298733	2	1	61	1	0	0	0	0	0	0	0	1	414	1190	42	3		3	AHNAK	11	62298733	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	34240724	62298733	72707783	30	4024											
OR4D5	219875	broad.mit.edu	37	chr11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccatggacaaggccGtctctgtgctatacacaatt	10	11	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	4	rs564572858		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0	0	5008	,	,		22065	0		0	False		,,,				2504	0.001					uc001pzk.1																			1	Substitution - Missense(1)	p.V271I(2)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.							161	131	141					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	811	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		A	123811134	G	A	123811134	3	1	61	1	0	0	0	0	1	0	0	0	11057	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	61512401	123811134	11195382	31	4025											
KCNC2	3747	broad.mit.edu	37	chr12	75601564	75601564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggggacagcgggggcGctctcggcggcggcgacagt	4	3	21	13	7	1	0	0	0	1	0	2	2	1	1	1	7	1	1	1	7	0	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr12:75601564G>A	ENST00000549446.1	-	2	880	c.200C>T	c.(199-201)gCg>gTg	p.A67V	KCNC2_ENST00000550433.1_Missense_Mutation_p.A67V|KCNC2_ENST00000298972.1_Missense_Mutation_p.A67V|KCNC2_ENST00000548513.1_Missense_Mutation_p.A67V|KCNC2_ENST00000540018.1_Missense_Mutation_p.A67V|KCNC2_ENST00000341669.3_Missense_Mutation_p.A67V|KCNC2_ENST00000393288.2_Missense_Mutation_p.A67V|KCNC2_ENST00000350228.2_Missense_Mutation_p.A67V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	67	Gly/Pro-rich (insert).				action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	cagcgggggcgctctcggcgg	0.771																																						uc001sxg.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(199-201)gCg>gTg		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.							5	6	5					12																	75601564		1808	3492	5300	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601564G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.200C>T	12.37:g.75601564G>A	ENSP00000449253:p.Ala67Val					KCNC2_uc009zry.3_Missense_Mutation_p.A67V|KCNC2_uc001sxe.3_Missense_Mutation_p.A67V|KCNC2_uc001sxf.3_Missense_Mutation_p.A67V|KCNC2_uc010stw.1_Missense_Mutation_p.A67V	p.A67V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			1	744	-			67			Gly/Pro-rich (insert).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.200C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	g	7.973	0.749452	0.15778	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97598	-4.45;-4.42;-4.42;-4.45;-4.42;-4.45;-4.42;-4.45	3.33	2.42	0.29668	BTB/POZ-like (1);BTB/POZ fold (1);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.413716	0.17823	N	0.160804	D	0.90597	0.7052	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.23650	0.073;0.073;0.089;0.073;0.073	B;B;B;B;B	0.15870	0.006;0.014;0.013;0.014;0.014	D	0.84144	0.0419	10	0.49607	T	0.09	.	10.0392	0.42146	0.0:0.2064:0.7936:0.0	.	67;67;67;67;67	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	V	67	ENSP00000448301:A67V;ENSP00000449941:A67V;ENSP00000449253:A67V;ENSP00000340121:A67V;ENSP00000298972:A67V;ENSP00000319877:A67V;ENSP00000438423:A67V;ENSP00000376966:A67V	ENSP00000298972:A67V	A	-	2	0	KCNC2	73887831	0.988000	0.35896	0.007000	0.13788	0.170000	0.22686	0.000000	0.12993	0.715000	0.32103	0.558000	0.71614	GCG		0.771	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75601564	G	A	75601564	3	1	61	1	0	0	0	0	1	0	0	0	8015	1087	38	1	1798	1	KCNC2	12	75601564	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		75601564	58250331	32	4026											
MYCBP2	23077	broad.mit.edu	37	chr13	77835447	77835447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattggtagctcaacccAttttcctgctgaaggaccac	10	12	8	11	0	1	1	1	1	0	0	2	2	2	2	3	2	3	4	3	2	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr13:77835447A>G	ENST00000544440.2	-	12	1614	c.1597T>C	c.(1597-1599)Tgg>Cgg	p.W533R	MYCBP2_ENST00000357337.6_Missense_Mutation_p.W533R|MYCBP2_ENST00000407578.2_Missense_Mutation_p.W571R|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTCAACCCATTTTCCTGCT	0.378																																						uc021rks.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1711-1713)Tgg>Cgg		Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.							141	129	133					13																	77835447		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835447A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1597T>C	13.37:g.77835447A>G	ENSP00000444596:p.Trp533Arg					MYCBP2_uc010aev.3_5'UTR	p.W571R	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	11	1978	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	533						Missense_Mutation	SNP	ENST00000544440.2	37	c.1711T>C		.	.	.	.	.	.	.	.	.	.	A	17.40	3.380934	0.61845	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.80214	-1.35;-1.35;-1.35	5.62	5.62	0.85841	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	L	0.48642	1.525	0.80722	D	1	P	0.41041	0.736	B	0.41988	0.372	T	0.81493	-0.0908	10	0.87932	D	0	.	15.8183	0.78621	1.0:0.0:0.0:0.0	.	533	O75592	MYCB2_HUMAN	R	533;571;533	ENSP00000349892:W533R;ENSP00000384288:W571R;ENSP00000444596:W533R	ENSP00000349892:W533R	W	-	1	0	MYCBP2	76733448	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.210000	0.95106	2.143000	0.66587	0.477000	0.44152	TGG		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77835447	A	G	77835447	3	3	61	1	0	0	0	0	1	0	0	0	10018	217	8	4	12613	4	MYCBP2	13	77835447	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		77835447	37334431	33	4027											
AKAP6	9472	broad.mit.edu	37	chr14	33290671	33290671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatgagtgaggatgccctgGaatgggatgaaatggacata	13	8	16	4	0	0	3	0	3	0	0	0	8	0	8	1	5	1	0	1	5	3	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:33290671G>C	ENST00000280979.4	+	13	3822	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1218					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGATGCCCTGGAATGGGATGA	0.393																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.3																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3652-3654)Gaa>Caa		Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.							108	101	103					14																	33290671		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290671G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3652G>C	14.37:g.33290671G>C	ENSP00000280979:p.Glu1218Gln						p.E1218Q	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	12	3822	+	Breast(36;0.0388)|Prostate(35;0.15)		1218					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3652G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171509	0.57584	.	.	ENSG00000151320	ENST00000280979	T	0.12255	2.7	5.79	5.79	0.91817	.	0.051755	0.85682	D	0.000000	T	0.40791	0.1131	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.09907	-1.0653	10	0.72032	D	0.01	-16.6721	20.0313	0.97540	0.0:0.0:1.0:0.0	.	1218	Q13023	AKAP6_HUMAN	Q	1218	ENSP00000280979:E1218Q	ENSP00000280979:E1218Q	E	+	1	0	AKAP6	32360422	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	9.211000	0.95120	2.746000	0.94184	0.655000	0.94253	GAA		0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		C	33290671	G	C	33290671	3	2	61	1	0	0	0	0	1	0	0	0	455	1175	41	5	3698	5	AKAP6	14	33290671	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		33290671	74058869	34	4028											
SMEK1	55671	broad.mit.edu	37	chr14	91937214	91937214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatgcttcgaggccataaGaactagcactctccggagga	12	7	11	11	2	1	1	0	0	1	1	3	4	1	3	2	3	4	3	2	3	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:91937214G>C	ENST00000554943.1	-	10	1742	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	SMEK1_ENST00000554684.1_Missense_Mutation_p.L530V|SMEK1_ENST00000555462.1_Missense_Mutation_p.L304V|SMEK1_ENST00000337238.4_Missense_Mutation_p.L530V|SMEK1_ENST00000428424.2_Missense_Mutation_p.L304V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	543					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGGCCATAAGAACTAGCACT	0.353																																						uc001xzn.3																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1627-1629)Ctt>Gtt		Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.							123	124	124					14																	91937214		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937214G>C	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1627C>G	14.37:g.91937214G>C	ENSP00000450883:p.Leu543Val					SMEK1_uc001xzm.3_Missense_Mutation_p.L530V|SMEK1_uc001xzo.3_Missense_Mutation_p.L530V|SMEK1_uc010atz.3_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_Non-coding_Transcript	p.L543V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	9	2449	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	543					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1627C>G		.	.	.	.	.	.	.	.	.	.	G	26.4	4.733636	0.89482	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.47869	1.62;1.62;0.83;1.62;0.83;1.62	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	M	0.90198	3.095	0.80722	D	1	D;P;D	0.59357	0.974;0.942;0.985	D;P;D	0.67725	0.953;0.685;0.918	T	0.78130	-0.2324	10	0.49607	T	0.09	-12.0194	19.618	0.95643	0.0:0.0:1.0:0.0	.	304;543;530	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	V	530;530;304;543;304;530	ENSP00000450864:L530V;ENSP00000337125:L530V;ENSP00000392704:L304V;ENSP00000450883:L543V;ENSP00000450891:L304V;ENSP00000452596:L530V	ENSP00000337125:L530V	L	-	1	0	SMEK1	91006967	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	8.025000	0.88777	2.635000	0.89317	0.650000	0.86243	CTT		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		C	91937214	G	C	91937214	3	2	61	1	0	0	0	0	1	0	0	0	14793	942	33	5	898	5	SMEK1	14	91937214	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	58646543	91937214	15412326	35	4029											
TRPM1	4308	broad.mit.edu	37	chr15	31294188	31294188	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccatgtaaactttttGacctgagagatgggaatccc	11	12	10	8	0	0	3	0	2	0	1	2	6	2	4	3	1	1	1	3	1	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:31294188G>T	ENST00000256552.6	-	28	4862	c.4715C>A	c.(4714-4716)tCa>tAa	p.S1572*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.S1550*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.S1589*|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAAACTTTTTGACCTGAGAGA	0.428																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(4765-4767)tCa>tAa		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							192	175	180					15																	31294188		1878	4109	5987	SO:0001587	stop_gained	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294188G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4715C>A	15.37:g.31294188G>T	ENSP00000256552:p.Ser1572*					TRPM1_uc010azy.3_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Nonsense_Mutation_p.S1572*|TRPM1_uc001zfm.3_Nonsense_Mutation_p.S1550*	p.S1589*	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	5080	-		all_lung(180;1.92e-11)	1550						Nonsense_Mutation	SNP	ENST00000256552.6	37	c.4766C>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	47	13.467419	0.99744	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-14.3742	18.4041	0.90528	0.0:0.0:1.0:0.0	.	.	.	.	X	1550;1589;1572;1550	.	ENSP00000256552:S1572X	S	-	2	0	TRPM1	29081480	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.506000	0.81665	2.400000	0.81607	0.563000	0.77884	TCA		0.428	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31294188	G	T	31294188	4	4	61	1	0	0	0	0	0	1	0	0	16582	1294	45	5	166	5	TRPM1	15	31294188	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		31294188	71237204	36	4030											
SPTBN5	51332	broad.mit.edu	37	chr15	42178160	42178160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggagggctgccttgtgctgGaagcgccgggccagggtttc	4	8	18	11	3	0	0	0	0	0	0	1	2	0	2	3	5	3	3	3	5	1	2	rs192428364	byFrequency	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:42178160G>C	ENST00000320955.6	-	7	1520	c.1293C>G	c.(1291-1293)ttC>ttG	p.F431L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	431					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGTGCTGGAAGCGCCGGG	0.667													G|||	3	0.000599042	0	0	5008	,	,		15618	0.003		0	False		,,,				2504	0					uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1186-1188)ttC>ttG		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							9	12	11					15																	42178160		1860	4065	5925	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178160G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1293C>G	15.37:g.42178160G>C	ENSP00000317790:p.Phe431Leu						p.F396L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	6	1521	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	431						Missense_Mutation	SNP	ENST00000320955.6	37	c.1188C>G		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.92	2.382284	0.42207	.	.	ENSG00000137877	ENST00000320955	T	0.62364	0.03	4.65	-0.765	0.11023	.	0.168207	0.39341	N	0.001383	T	0.74535	0.3729	M	0.89214	3.015	0.19300	N	0.999977	D	0.58970	0.984	P	0.58520	0.84	T	0.68051	-0.5511	10	0.54805	T	0.06	.	10.1517	0.42799	0.5656:0.0:0.4344:0.0	.	431	Q9NRC6	SPTN5_HUMAN	L	431	ENSP00000317790:F431L	ENSP00000317790:F431L	F	-	3	2	SPTBN5	39965452	0.860000	0.29831	0.528000	0.27938	0.359000	0.29487	0.486000	0.22340	-0.157000	0.11059	-0.145000	0.13849	TTC		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42178160	G	C	42178160	3	2	61	1	0	0	0	0	1	0	0	0	15121	1165	41	5	9979	5	SPTBN5	15	42178160	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	10883972	42178160	60353232	37	4031											
OR1F1	4992	broad.mit.edu	37	chr16	3254556	3254556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcacacagatgtatttcGttttcatgttcgtggacatg	8	16	9	8	2	2	1	2	0	1	1	5	2	2	2	0	1	0	3	0	1	1	5	rs141236935		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:3254556G>A	ENST00000304646.2	+	1	310	c.310G>A	c.(310-312)Gtt>Att	p.V104I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	104					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTATTTCGTTTTCATGTT	0.498													G|||	1	0.000199681	0	0	5008	,	,		24719	0		0.001	False		,,,				2504	0					uc010uwu.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(310-312)Gtt>Att		Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.		G	ILE/VAL	0,4394		0,0,2197	241	204	217		310	-10.5	0	16	dbSNP_134	217	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR1F1	NM_012360.1	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	104/313	3254556	2,12992	2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254556G>A	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.310G>A	16.37:g.3254556G>A	ENSP00000305424:p.Val104Ile						p.V104I	NM_012360	NP_036492	O43749	OR1F1_HUMAN			0	310	+			104					O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.310G>A	CCDS10496.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.735	0.320031	0.10845	0.0	2.33E-4	ENSG00000168124	ENST00000304646	T	0.00321	8.11	5.27	-10.5	0.00291	GPCR, rhodopsin-like superfamily (1);	1.684360	0.03335	N	0.193960	T	0.00144	0.0004	N	0.13198	0.31	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.42949	-0.9421	10	0.72032	D	0.01	.	13.3527	0.60611	0.0:0.4636:0.1181:0.4183	.	104	O43749	OR1F1_HUMAN	I	104	ENSP00000305424:V104I	ENSP00000305424:V104I	V	+	1	0	OR1F1	3194557	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.746000	0.04829	-2.523000	0.00496	-0.749000	0.03505	GTT		0.498	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			A	3254556	G	A	3254556	3	1	61	1	0	0	0	0	1	0	0	0	10956	1145	40	1	312	1	OR1F1	16	3254556	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		3254556	87100197	38	4032											
CIITA	4261	broad.mit.edu	37	chr16	10992859	10992859	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaaagtcagaaaagaCgtgagtgagcccctccctga	14	5	12	10	1	1	6	1	3	0	3	2	6	2	6	3	1	1	1	3	1	4	0	rs376464815		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:10992859C>T	ENST00000324288.8	+	5	569	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Splice_Site_p.P146S	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	146					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGAAAAGACGTGAGTGAGC	0.512			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	uc002daj.4				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.e5+1		Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.		C	SER/PRO	0,4394		0,0,2197	146	139	141		436	-0.4	1	16		141	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CIITA	NM_000246.3	74	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	146/1131	10992859	1,12993	2197	4300	6497	SO:0001630	splice_region_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10992859C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.436+1C>T	16.37:g.10992859C>T						CIITA_uc002dai.4_Splice_Site_p.P146_splice|CIITA_uc002dak.4_Splice_Site_p.P146_splice|CIITA_uc002dag.2_Splice_Site_p.P146_splice|CIITA_uc002dah.2_Splice_Site_p.P147_splice|CIITA_uc010bup.1_Splice_Site_p.P146_splice	p.P147_splice	NM_000246	NP_000237	P33076	C2TA_HUMAN			5	572	+			146					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.439_splice	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502880	0.26949	0.0	1.16E-4	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.71222	-0.55;1.8	3.81	-0.389	0.12455	.	0.778293	0.10886	N	0.623207	T	0.51278	0.1665	L	0.29908	0.895	0.25755	N	0.985018	B;B;B;B;B;B	0.24823	0.112;0.038;0.106;0.04;0.066;0.068	B;B;B;B;B;B	0.19148	0.024;0.008;0.007;0.011;0.024;0.011	T	0.30327	-0.9982	10	0.22706	T	0.39	.	5.9989	0.19509	0.0:0.5069:0.0:0.4931	.	146;146;146;146;147;146	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	S	146;146;147;146	ENSP00000316328:P146S;ENSP00000371257:P146S	ENSP00000316328:P146S	P	+	1	0	CIITA	10900360	0.928000	0.31464	0.999000	0.59377	0.981000	0.71138	-0.549000	0.06041	0.076000	0.16826	0.557000	0.71058	CCC		0.512	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	Missense_Mutation	T	10992859	C	T	10992859	5	4	61	1	0	0	0	0	0	0	1	0	3428	550	19	1	454	1	CIITA	16	10992859	Splice_Site	SNP	C	TCGA-06-0745-01A-01W-0348-08	7738303	10992859	79361894	39	4033											
GTF3C1	2975	broad.mit.edu	37	chr16	27483187	27483187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagctcctcttctggcactCcatgaaggccttcacaagaa	11	9	7	14	0	3	2	1	1	2	1	5	2	5	2	3	2	1	2	3	2	4	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:27483187C>G	ENST00000356183.4	-	30	4423	c.4408G>C	c.(4408-4410)Gag>Cag	p.E1470Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1470Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1470					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTGGCACTCCATGAAGGCC	0.617																																						uc002dov.2																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4408-4410)Gag>Cag		Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.							77	68	71					16																	27483187		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27483187C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4408G>C	16.37:g.27483187C>G	ENSP00000348510:p.Glu1470Gln					GTF3C1_uc002dou.3_Missense_Mutation_p.E1470Q	p.E1470Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			29	4448	-			1470					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4408G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154236	0.57259	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24151	1.87	5.19	5.19	0.71726	.	0.282701	0.34628	N	0.003817	T	0.43188	0.1236	L	0.57536	1.79	0.36067	D	0.841869	B;D	0.67145	0.314;0.996	B;P	0.58873	0.074;0.847	T	0.43540	-0.9385	10	0.25106	T	0.35	-20.0643	18.3272	0.90258	0.0:1.0:0.0:0.0	.	1470;1470	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	1470;1466	ENSP00000348510:E1470Q	ENSP00000348510:E1470Q	E	-	1	0	GTF3C1	27390688	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.421000	0.52742	2.419000	0.82065	0.655000	0.94253	GAG		0.617	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		G	27483187	C	G	27483187	3	3	61	1	0	0	0	0	1	0	0	0	6872	864	30	5	1953	5	GTF3C1	16	27483187	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	16490328	27483187	62871566	40	4034											
CHD9	80205	broad.mit.edu	37	chr16	53190481	53190481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctttgtggcacaccaTgactttgccttatttcaggc	10	13	8	10	0	1	1	1	1	0	0	1	1	1	1	2	2	2	2	2	2	3	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:53190481T>A	ENST00000398510.3	+	1	567	c.480T>A	c.(478-480)caT>caA	p.H160Q	CHD9_ENST00000447540.1_Missense_Mutation_p.H160Q|CHD9_ENST00000564845.1_Missense_Mutation_p.H160Q|CHD9_ENST00000566029.1_Missense_Mutation_p.H160Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	160					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCACACCATGACTTTGCCT	0.388																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(478-480)caT>caA		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							89	86	87					16																	53190481		1931	4142	6073	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190481T>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.480T>A	16.37:g.53190481T>A	ENSP00000381522:p.His160Gln					CHD9_uc002egy.3_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.3_Missense_Mutation_p.H160Q	p.H160Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			0	644	+		all_cancers(37;0.0212)	160					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.480T>A		.	.	.	.	.	.	.	.	.	.	T	10.77	1.444535	0.25987	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.85773	-1.95;-2.03	5.86	3.64	0.41730	.	0.094859	0.45867	D	0.000335	T	0.77731	0.4174	L	0.34521	1.04	0.24306	N	0.995101	B;B;P;B	0.39216	0.001;0.001;0.664;0.001	B;B;B;B	0.41036	0.002;0.001;0.346;0.002	T	0.67692	-0.5605	10	0.38643	T	0.18	-6.3071	8.728	0.34480	0.0:0.2083:0.0:0.7917	.	160;160;160;160	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	Q	160	ENSP00000396345:H160Q;ENSP00000381522:H160Q	ENSP00000381522:H160Q	H	+	3	2	CHD9	51747982	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.480000	0.22244	1.053000	0.40415	0.528000	0.53228	CAT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		A	53190481	T	A	53190481	3	1	61	1	0	0	0	0	1	0	0	0	3332	1461	51	5	482	5	CHD9	16	53190481	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	25707294	53190481	37164272	41	4035											
CTU2	9780	broad.mit.edu	37	chr16	88779258	88779258	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactgaggctctttcccaaCtgttctgctcagtgaggaca	9	11	10	11	0	3	3	1	2	2	1	4	4	4	4	1	2	2	3	1	2	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:88779258C>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.L228M|CTU2_ENST00000567949.1_Missense_Mutation_p.L299M|CTU2_ENST00000378384.3_Missense_Mutation_p.L141M|CTU2_ENST00000312060.5_Missense_Mutation_p.L228M	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TCTTTCCCAACTGTTCTGCTC	0.677																																						uc010chz.3																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(895-897)Ctg>Atg		Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.							23	24	24					16																	88779258		2194	4290	6484	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88779258C>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779258C>A						CTU2_uc002flm.3_Missense_Mutation_p.L228M|CTU2_uc002fln.3_Missense_Mutation_p.L228M|CTU2_uc010cia.3_Missense_Mutation_p.L141M	p.L299M	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN			6	943	+			228					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.895C>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096805	0.36952	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.25085	1.82;2.06;2.08	4.6	2.61	0.31194	.	0.000000	0.64402	D	0.000002	T	0.43322	0.1242	M	0.72118	2.19	0.53688	D	0.999976	P;D;D	0.71674	0.918;0.998;0.992	P;P;D	0.64595	0.758;0.898;0.927	T	0.21895	-1.0232	10	0.49607	T	0.09	.	9.2846	0.37749	0.0:0.8152:0.0:0.1848	.	141;228;228	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	M	141;228;228	ENSP00000367635:L141M;ENSP00000308617:L228M;ENSP00000388320:L228M	ENSP00000308617:L228M	L	+	1	2	CTU2	87306759	0.921000	0.31238	0.048000	0.18961	0.012000	0.07955	3.120000	0.50430	0.471000	0.27319	0.650000	0.86243	CTG		0.677	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		A	88779258	C	A	88779258	1	1	61	0	1	0	0	0	0	0	0	0	4048	564	20	5		5	CTU2	16	88779258	IGR	SNP	C	TCGA-06-0745-01A-01W-0348-08	35588777	88779258	1575495	42	4036											
ITGB4	3691	broad.mit.edu	37	chr17	73733432	73733432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgcgctgctccttcCgggacgaggatgacgactgc	5	9	16	11	4	0	1	0	1	0	0	2	5	2	3	2	4	3	2	2	4	0	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr17:73733432C>T	ENST00000200181.3	+	17	2207	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	ITGB4_ENST00000450894.3_Missense_Mutation_p.R674W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.R674W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R674W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R674W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	674				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). {ECO:0000305}.	amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTCCTTCCGGGACGAGGA	0.652																																						uc002jpg.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(2020-2022)Cgg>Tgg		Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.							55	56	56					17																	73733432		2201	4297	6498	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73733432C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2020C>T	17.37:g.73733432C>T	ENSP00000200181:p.Arg674Trp					ITGB4_uc002jph.3_Missense_Mutation_p.R674W|ITGB4_uc010dgo.3_Missense_Mutation_p.R674W|ITGB4_uc002jpi.4_Missense_Mutation_p.R674W|ITGB4_uc010dgp.1_Missense_Mutation_p.R674W|ITGB4_uc002jpj.3_Missense_Mutation_p.R674W	p.R674W	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	2207	+	all_cancers(13;1.5e-07)		674	IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).				A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2020C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238513	0.39598	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.91068	-2.78;-2.78;-2.78	4.45	4.45	0.53987	Integrin beta subunit, tail (2);	0.073550	0.52532	D	0.000064	D	0.95510	0.8541	M	0.83483	2.645	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.933;0.989;0.992;0.996	D	0.96391	0.9289	10	0.87932	D	0	.	17.0865	0.86612	0.0:1.0:0.0:0.0	.	674;674;674;674	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	W	590;674;674;674	ENSP00000200181:R674W;ENSP00000344079:R674W;ENSP00000400217:R674W	ENSP00000200181:R674W	R	+	1	2	ITGB4	71245027	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.739000	0.47409	2.015000	0.59207	0.467000	0.42956	CGG		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			T	73733432	C	T	73733432	3	4	61	1	0	0	0	0	1	0	0	0	7897	643	23	2	2082	2	ITGB4	17	73733432	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		73733432	7461778	43	4037											
BCL2	596	broad.mit.edu	37	chr18	60985794	60985796	+	In_Frame_Del	DEL	CCA	CCA	-																															ggcccccgggggcgcggcgcCcacatctcccgcatcccact																										TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr18:60985794_60985796delCCA	ENST00000398117.1	-	1	1565_1567	c.104_106delTGG	c.(103-108)gtgggc>ggc	p.V35del	BCL2_ENST00000589955.1_In_Frame_Del_p.V35del|BCL2_ENST00000333681.4_In_Frame_Del_p.V35del|BCL2_ENST00000444484.1_In_Frame_Del_p.V35del	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	35		Cleavage; by caspase-3.			actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ggcgcggcgcccACATCTCCCGC	0.68			T	IGH@	"NHL, CLL"																																	uc002lit.1				Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		"NHL, CLL"		0		p.V35M(1)|p.D34G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113						c.(103-108)gtgggc>ggc		Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)																																			SO:0001651	inframe_deletion	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985794_60985796delCCA	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.104_106delTGG	18.37:g.60985794_60985796delCCA	ENSP00000381185:p.Val35del					BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del|BCL2_uc021ulf.1_In_Frame_Del_p.V35del	p.V35del	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	1	597_599	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	35				Cleavage; by caspase-3.	C9JHD5|P10416|Q13842|Q16197	In_Frame_Del	DEL	ENST00000398117.1	37	c.104_106delTGG	CCDS11981.1																																																																																				0.68	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		-	60985796	CCA	-	60985794	7	5	61	1	0	1	0	1	0	0	0	0	1365	623	22	0	654	0	BCL2	18	60985794	In_Frame_Del	DEL	CCA	TCGA-06-0745-01A-01W-0348-08		60985794	17091454	44	4038											
C3	718	broad.mit.edu	37	chr19	6714208	6714208	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaactcagtggagaaGacctgctgtggtgagttttc	10	11	11	9	0	2	3	2	1	0	2	3	4	2	3	2	2	2	2	2	2	2	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:6714208G>C	ENST00000245907.6	-	6	743	c.651C>G	c.(649-651)gtC>gtG	p.V217V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	217					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CAGTGGAGAAGACCTGCTGTG	0.632																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(649-651)gtC>gtG		Homo sapiens complement component 3 (C3), mRNA.							97	97	97					19																	6714208		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6714208G>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.651C>G	19.37:g.6714208G>C							p.V217V	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	5	713	-			217					A7E236	Silent	SNP	ENST00000245907.6	37	c.651C>G	CCDS32883.1																																																																																				0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		C	6714208	G	C	6714208	2	2	61	1	0	0	0	0	0	0	0	1	2204	929	33	5		5	C3	19	6714208	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08		6714208	52414775	45	4039											
MUC16	94025	broad.mit.edu	37	chr19	9072189	9072189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtcacaggttccaagCgtgtacgtaatatgtctgta	10	12	11	8	2	2	0	1	0	1	0	3	0	3	0	1	2	3	5	1	2	5	5	rs533387298		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:9072189C>T	ENST00000397910.4	-	3	15460	c.15257G>A	c.(15256-15258)cGc>cAc	p.R5086H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5088	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R5086L(2)|p.R719L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTTCCAAGCGTGTACGTAA	0.433													C|||	1	0.000199681	0	0	5008	,	,		21419	0		0.001	False		,,,				2504	0					uc002mkp.3																			3	Substitution - Missense(3)	p.R5086L(3)|p.R719L(1)	lung(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15256-15258)cGc>cAc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							182	163	169					19																	9072189		1914	4129	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072189C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15257G>A	19.37:g.9072189C>T	ENSP00000381008:p.Arg5086His						p.R5086H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	15461	-			5088			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15257G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.995	0.553639	0.13374	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	1.78	0.68	0.17980	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	.	.	.	D	0.60160	0.987	B	0.34991	0.193	T	0.22208	-1.0223	8	0.87932	D	0	.	4.6296	0.12495	0.0:0.7992:0.0:0.2008	.	5086	B5ME49	.	H	5086	ENSP00000381008:R5086H	ENSP00000381008:R5086H	R	-	2	0	MUC16	8933189	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-0.901000	0.04093	0.324000	0.23333	0.282000	0.19409	CGC		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9072189	C	T	9072189	3	4	61	1	0	0	0	0	1	0	0	0	9973	768	27	1	28594	1	MUC16	19	9072189	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	2357981	9072189	50056794	46	4040											
ZNF844	284391	broad.mit.edu	37	chr19	12187210	12187210	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatgaatgtaagcagtgtAgtaaagccttcatttcttcc	11	14	7	9	0	2	1	1	1	1	0	3	1	3	1	3	0	2	4	3	0	6	7	rs6511764	byFrequency	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:12187210A>G	ENST00000439326.3	+	4	1450	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428													.|||	1455	0.290535	0.73	0.1455	5008	,	,		23733	0.0853		0.161	False		,,,				2504	0.1442					uc002mtb.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1273-1275)gtA>gtG		Homo sapiens zinc finger protein 844 (ZNF844), mRNA.		G		883,501		287,309,96	54	57	56		1275	0.5	0	19	dbSNP_116	56	413,2769		25,363,1203	no	coding-synonymous	ZNF844	NM_001136501.1		312,672,1299	GG,GA,AA		12.9793,36.1994,28.3837		425/667	12187210	1296,3270	692	1591	2283	SO:0001819	synonymous_variant	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187210A>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1275A>G	19.37:g.12187210A>G						ZNF844_uc010dym.1_Silent_p.V268V	p.V425V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			3	1418	+			425					Q5JPI8	Silent	SNP	ENST00000439326.3	37	c.1275A>G	CCDS45985.1																																																																																				0.428	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			G	12187210	A	G	12187210	2	3	61	1	0	0	0	0	0	0	0	1	18187	407	15	4		4	ZNF844	19	12187210	Silent	SNP	A	TCGA-06-0745-01A-01W-0348-08	3115021	12187210	46941773	47	4041											
ZNF813	126017	broad.mit.edu	37	chr19	53995161	53995161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtaatgaatgtggcaagGtttttaatcaaaaagcacac	16	11	9	5	0	1	1	1	1	0	0	1	1	1	1	0	2	1	4	0	2	6	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:53995161G>A	ENST00000396403.4	+	4	1803	c.1675G>A	c.(1675-1677)Gtt>Att	p.V559I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGGCAAGGTTTTTAATCA	0.363																																						uc021uzf.1																			0				large_intestine(1)	1								Homo sapiens zinc finger protein 813 (ZNF813), mRNA.							47	49	49					19																	53995161		2196	4296	6492	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995161G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1675G>A	19.37:g.53995161G>A	ENSP00000379684:p.Val559Ile					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.V559I		NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	0		+									Missense_Mutation	SNP	ENST00000396403.4	37		CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	8.376	0.836484	0.16891	.	.	ENSG00000198346	ENST00000396403	T	0.01005	5.45	1.28	-0.201	0.13212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00906	0.0030	N	0.21373	0.66	0.09310	N	1	B	0.32862	0.387	B	0.39771	0.309	T	0.49504	-0.8933	9	0.87932	D	0	.	1.5245	0.02523	0.4183:0.0:0.2758:0.306	.	559	Q6ZN06	ZN813_HUMAN	I	559	ENSP00000379684:V559I	ENSP00000379684:V559I	V	+	1	0	ZNF813	58686973	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.956000	0.03865	0.455000	0.26910	0.187000	0.17357	GTT		0.363	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53995161	G	A	53995161	3	1	61	1	0	0	0	0	1	0	0	0	18172	1261	44	3	1685	3	ZNF813	19	53995161	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	41807951	53995161	5133822	48	4042											
SLC17A9	63910	broad.mit.edu	37	chr20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttggcctctccagcGtctttgctctgtgcctgggc	1	13	13	14	1	3	0	0	0	3	0	4	0	3	0	4	3	3	1	4	3	0	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																						uc002yea.4																			1	Substitution - Missense(1)	p.V324I(2)	ovary(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(970-972)Gtc>Atc		Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.							157	172	167					20																	61596986		2121	4242	6363	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596986G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile					SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	p.V324I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			9	1154	+			324					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.970G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		A	61596986	G	A	61596986	3	1	61	1	0	0	0	0	1	0	0	0	14424	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		61596986	1428534	49	4043											
RGL4	266747	broad.mit.edu	37	chr22	24040417	24040417	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggtccgagttctgcagGaaatgcagctgctccaagtg	10	8	14	9	1	1	0	0	0	1	0	3	3	3	2	2	3	4	5	2	3	2	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:24040417G>T	ENST00000290691.5	+	10	2449	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Nonsense_Mutation_p.E291*|RGL4_ENST00000460167.1_3'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	427	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGTTCTGCAGGAAATGCAGCT	0.547																																						uc002zxo.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(1279-1281)Gaa>Taa		Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.							42	42	42					22																	24040417		2203	4300	6503	SO:0001587	stop_gained	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24040417G>T		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1279G>T	22.37:g.24040417G>T	ENSP00000290691:p.Glu427*					GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.3_Nonsense_Mutation_p.E291*	p.E427*			Q8IZJ4	RGDSR_HUMAN			9	2536	+			427			Ras-GEF.		Q495L8	Nonsense_Mutation	SNP	ENST00000290691.5	37	c.1279G>T	CCDS13811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	12.35|12.35	1.910470|1.910470	0.33721|0.33721	.|.	.|.	ENSG00000159496|ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392|ENST00000452208	.|.	.|.	.|.	2.21|2.21	-0.2|-0.2	0.13216|0.13216	.|.	0.094640|.	0.42964|.	U|.	0.000637|.	.|T	.|0.29749	.|0.0743	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35871	.|-0.9771	.|3	0.56958|.	D|.	0.05|.	.|.	4.6255|4.6255	0.12476|0.12476	0.1473:0.4424:0.4104:0.0|0.1473:0.4424:0.4104:0.0	.|.	.|.	.|.	.|.	X|V	291;427;427;427|108	.|.	ENSP00000290691:E427X|.	E|G	+|+	1|2	0|0	RGL4|RGL4	22370417|22370417	0.995000|0.995000	0.38212|0.38212	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	2.540000|2.540000	0.45727|0.45727	0.028000|0.028000	0.15324|0.15324	-0.682000|-0.682000	0.03756|0.03756	GAA|GGA		0.547	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		T	24040417	G	T	24040417	4	4	61	1	0	0	0	0	0	1	0	0	13279	1175	41	5	1317	5	RGL4	22	24040417	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		24040417	27264149	50	4044											
CHEK2	11200	broad.mit.edu	37	chr22	29130518	29130518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcctgagtggacactgtCtctaaggagctcagtgtccc	8	11	11	11	0	2	1	1	1	1	0	5	3	4	3	2	2	1	2	2	2	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:29130518C>T	ENST00000405598.1	-	3	383	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CHEK2_ENST00000382565.1_Silent_p.E64E|CHEK2_ENST00000404276.1_Silent_p.E64E|CHEK2_ENST00000382580.2_Silent_p.E64E|CHEK2_ENST00000382566.1_Silent_p.E64E|CHEK2_ENST00000348295.3_Silent_p.E64E|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000402731.1_Silent_p.E64E|CHEK2_ENST00000403642.1_Silent_p.E64E|CHEK2_ENST00000382578.1_Silent_p.E64E|CHEK2_ENST00000328354.6_Silent_p.E64E			O96017	CHK2_HUMAN	checkpoint kinase 2	64			E -> K (in prostate cancer; somatic mutation). {ECO:0000269|PubMed:12533788}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGGACACTGTCTCTAAGGAGC	0.567			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(190-192)gaG>gaA	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.							113	110	111					22																	29130518		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29130518C>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.192G>A	22.37:g.29130518C>T						CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR	p.E64E	NM_007194	NP_009125	O96017	CHK2_HUMAN			1	264	-			64		E -> K (in prostate cancer; somatic mutation).			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.192G>A	CCDS13843.1																																																																																				0.567	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29130518	C	T	29130518	2	4	61	1	0	0	0	0	0	0	0	1	3335	912	32	3		3	CHEK2	22	29130518	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	5090101	29130518	22174048	51	4045											
SBF1	6305	broad.mit.edu	37	chr22	50901747	50901747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcatacggacgacaaagtCaaactgctggtggtccagga	13	7	11	10	2	2	0	2	0	0	0	3	3	3	2	1	4	3	1	1	4	3	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:50901747C>G	ENST00000390679.3	-	16	2048	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	SBF1_ENST00000348911.6_Missense_Mutation_p.D623H|SBF1_ENST00000380817.3_Missense_Mutation_p.D622H			O95248	MTMR5_HUMAN	SET binding factor 1	622					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACAAAGTCAAACTGCTGG	0.632																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1864-1866)Gac>Cac		Homo sapiens SET binding factor 1 (SBF1), mRNA.							43	43	43					22																	50901747		2107	4222	6329	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901747C>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1864G>C	22.37:g.50901747C>G	ENSP00000375097:p.Asp622His					SBF1_uc011arx.2_Missense_Mutation_p.D286H|SBF1_uc003bli.2_Missense_Mutation_p.D623H	p.D622H	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	15	2059	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	622					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1864G>C		.	.	.	.	.	.	.	.	.	.	C	29.3	4.996404	0.93167	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.66815	-0.23;-0.23;-0.23	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84972	0.0883	10	0.87932	D	0	.	17.7229	0.88357	0.0:1.0:0.0:0.0	.	622;623;622	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	H	622;623;633;632;622	ENSP00000370196:D622H;ENSP00000252027:D623H;ENSP00000375097:D622H	ENSP00000336522:D632H	D	-	1	0	SBF1	49248613	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.383000	0.79741	2.502000	0.84385	0.655000	0.94253	GAC		0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding				G	50901747	C	G	50901747	3	3	61	1	0	0	0	0	1	0	0	0	13858	826	29	5	3921	5	SBF1	22	50901747	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	21771229	50901747	402819	52	4046											
MXRA5	25878	broad.mit.edu	37	chrX	3239887	3239887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttttcagagaaacagttCtaggcaaaagtatagtttct	14	13	8	6	0	3	1	1	0	2	1	3	2	3	1	0	1	1	5	0	1	6	7			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:3239887C>T	ENST00000217939.6	-	5	3993	c.3839G>A	c.(3838-3840)aGa>aAa	p.R1280K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1280						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAACAGTTCTAGGCAAAAG	0.408																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3838-3840)aGa>aAa		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							113	108	110					X																	3239887		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239887C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3839G>A	X.37:g.3239887C>T	ENSP00000217939:p.Arg1280Lys						p.R1280K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	3996	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1280					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3839G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	2.458	-0.324861	0.05350	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61040	0.14	3.51	-0.675	0.11364	.	0.812162	0.10298	U	0.691516	T	0.28034	0.0691	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.22941	-1.0202	10	0.02654	T	1	.	7.5739	0.27924	0.1657:0.629:0.2053:0.0	.	1280	Q9NR99	MXRA5_HUMAN	K	1280	ENSP00000217939:R1280K	ENSP00000217939:R1280K	R	-	2	0	MXRA5	3249887	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.006000	0.13152	-0.842000	0.04195	-2.059000	0.00401	AGA		0.408	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3239887	C	T	3239887	3	4	61	1	0	0	0	0	1	0	0	0	10003	913	32	3	4659	3	MXRA5	23	3239887	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		3239887	152030673	53	4047											
ZXDB	158586	broad.mit.edu	37	chrX	57619132	57619132	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaagctgggttcccgcaTgccgcgcacccgggtgactg	5	6	14	16	5	0	1	0	1	0	0	1	1	1	1	4	2	2	5	4	2	1	1	rs199767764		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:57619132T>A	ENST00000374888.1	+	1	864	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.H217Q(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGTTCCCGCATGCCGCGCACC	0.746																																						uc004dvd.3																			1	Substitution - Missense(1)	p.H217Q(2)	NS(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(649-651)caT>caA		Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.							7	9	9					X																	57619132		2155	4173	6328	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619132T>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.651T>A	X.37:g.57619132T>A	ENSP00000364023:p.His217Gln						p.H217Q	NM_007157	NP_009088	P98169	ZXDB_HUMAN			0	864	+			217					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.651T>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	8.718	0.913703	0.17907	.	.	ENSG00000198455	ENST00000374888	T	0.10005	2.92	3.04	-3.05	0.05396	.	0.638667	0.13057	N	0.417164	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.25048	0.117	B	0.22152	0.038	T	0.44636	-0.9315	10	0.12103	T	0.63	.	5.024	0.14376	0.0:0.2273:0.2511:0.5216	.	217	P98169	ZXDB_HUMAN	Q	217	ENSP00000364023:H217Q	ENSP00000364023:H217Q	H	+	3	2	ZXDB	57635857	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.835000	0.04386	-0.656000	0.05380	-0.283000	0.09986	CAT		0.746	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		A	57619132	T	A	57619132	3	1	61	1	0	0	0	0	1	0	0	0	18248	1461	51	5	653	5	ZXDB	23	57619132	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	54379245	57619132	97651428	54	4048											
CHM	1121	broad.mit.edu	37	chrX	85218739	85218739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagtaattctgtttttCtttggttgctctgtggtatc	6	20	10	5	0	3	0	0	0	3	0	4	1	3	0	0	2	1	6	0	2	3	8			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:85218739C>A	ENST00000357749.2	-	5	662	c.633G>T	c.(631-633)aaG>aaT	p.K211N	CHM_ENST00000537751.1_Missense_Mutation_p.K63N|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	211					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTCTGTTTTTCTTTGGTTGCT	0.333																																						uc004eet.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(631-633)aaG>aaT		Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.							110	88	95					X																	85218739		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218739C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.633G>T	X.37:g.85218739C>A	ENSP00000350386:p.Lys211Asn					CHM_uc011mqz.2_Missense_Mutation_p.K63N	p.K211N	NM_000390	NP_000381	P24386	RAE1_HUMAN			4	663	-		all_lung(315;5.41e-06)	211					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.633G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855659	0.17106	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59502	0.26;0.26	4.5	4.5	0.54988	.	0.431179	0.26377	N	0.024728	T	0.52581	0.1743	L	0.49350	1.555	0.40526	D	0.980882	B	0.21309	0.054	B	0.33254	0.16	T	0.49670	-0.8915	10	0.23891	T	0.37	-20.5771	10.5275	0.44957	0.0:0.9067:0.0:0.0933	.	211	P24386	RAE1_HUMAN	N	211;63	ENSP00000350386:K211N;ENSP00000441728:K63N	ENSP00000350386:K211N	K	-	3	2	CHM	85105395	1.000000	0.71417	0.983000	0.44433	0.338000	0.28826	3.391000	0.52530	1.962000	0.57031	0.284000	0.19432	AAG		0.333	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		A	85218739	C	A	85218739	3	1	61	1	0	0	0	0	1	0	0	0	3350	912	32	5	1372	5	CHM	23	85218739	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	27599607	85218739	70051821	55	4049											
PCDH11X	27328	broad.mit.edu	37	chrX	91090731	91090731	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgtgccactgattcgAattgaagaggatactggtga	12	10	14	5	1	0	5	0	3	0	2	1	8	0	6	1	3	2	0	1	3	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:91090731A>T	ENST00000373094.1	+	1	1073	c.228A>T	c.(226-228)cgA>cgT	p.R76R	PCDH11X_ENST00000395337.2_Silent_p.R76R|PCDH11X_ENST00000373088.1_Silent_p.R76R|PCDH11X_ENST00000361724.1_Silent_p.R76R|PCDH11X_ENST00000504220.2_Silent_p.R76R|PCDH11X_ENST00000298274.8_Silent_p.R76R|PCDH11X_ENST00000373097.1_Silent_p.R76R|PCDH11X_ENST00000361655.2_Silent_p.R76R|PCDH11X_ENST00000406881.1_Silent_p.R76R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACTGATTCGAATTGAAGAGG	0.443																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(226-228)cgA>cgT		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							206	171	183					X																	91090731		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090731A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.228A>T	X.37:g.91090731A>T						PCDH11X_uc004efl.2_Silent_p.R76R|PCDH11X_uc010nmv.2_Silent_p.R76R|PCDH11X_uc004efm.2_Silent_p.R76R|PCDH11X_uc004efn.2_Silent_p.R76R|PCDH11X_uc004efo.2_Silent_p.R76R|PCDH11X_uc004efh.2_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	p.R76R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			0	1073	+			76			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.228A>T	CCDS14461.1																																																																																				0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91090731	A	T	91090731	2	4	61	1	0	0	0	0	0	0	0	1	11508	233	9	5		5	PCDH11X	23	91090731	Silent	SNP	A	TCGA-06-0745-01A-01W-0348-08	5871992	91090731	64179829	56	4050											
MTOR	2475	broad.mit.edu	37	chr1	11217231	11217231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccaaggcctcgaggcAgcgcatgcggcccagcatca	8	5	11	17	3	1	0	1	0	0	0	3	1	2	0	4	3	3	3	4	3	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:11217231A>G	ENST00000361445.4	-	30	4523	c.4447T>C	c.(4447-4449)Tgc>Cgc	p.C1483R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1483	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCTCGAGGCAGCGCATGCGG	0.527																																						uc001asd.3																			0		p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4447-4449)Tgc>Cgc		Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.							191	178	182					1																	11217231		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11217231A>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4447T>C	1.37:g.11217231A>G	ENSP00000354558:p.Cys1483Arg						p.C1483R	NM_004958	NP_004949	P42345	MTOR_HUMAN			29	4568	-			1483			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4447T>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386530	0.82902	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.70045	-0.45	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	M	0.91920	3.255	0.80722	D	1	D	0.59357	0.985	P	0.55055	0.767	D	0.86805	0.1994	10	0.87932	D	0	-11.9694	15.2808	0.73784	1.0:0.0:0.0:0.0	.	1483	P42345	MTOR_HUMAN	R	1483	ENSP00000354558:C1483R	ENSP00000354558:C1483R	C	-	1	0	MTOR	11139818	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.871000	0.92346	2.011000	0.59026	0.533000	0.62120	TGC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11217231	A	G	11217231	3	3	62	1	0	0	0	0	1	0	0	0	9954	188	7	4	3318	4	MTOR	1	11217231	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08		11217231	238033390	1	4051											
KIF17	57576	broad.mit.edu	37	chr1	21031072	21031072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgatgttcttggcccGgttggcgtagcgcagcgtgc	3	12	15	11	4	1	1	0	1	1	0	2	1	2	1	2	3	3	5	2	3	1	5	rs139912475		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:21031072G>A	ENST00000247986.2	-	5	1301	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	KIF17_ENST00000375044.1_Missense_Mutation_p.R231W|KIF17_ENST00000400463.3_Missense_Mutation_p.R331W			Q9P2E2	KIF17_HUMAN	kinesin family member 17	331	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCTTGGCCCGGTTGGCGTAG	0.597																																						uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(991-993)Cgg>Tgg		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	165	125	138		991,991	3.2	1	1	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KIF17	NM_001122819.1,NM_020816.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	331/1029,331/1030	21031072	1,13005	2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031072G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.991C>T	1.37:g.21031072G>A	ENSP00000247986:p.Arg331Trp					KIF17_uc001bds.4_Missense_Mutation_p.R331W	p.R331W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	4	1109	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	331					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.991C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960050	0.74016	0.0	1.16E-4	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.79033	-1.23;-1.23;-1.23	5.26	3.21	0.36854	Kinesin, motor domain (3);	0.282457	0.17911	U	0.157832	D	0.92857	0.7728	H	0.99863	4.86	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92581	0.6074	10	0.87932	D	0	.	9.0289	0.36247	0.0748:0.0:0.658:0.2672	.	331;331	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	W	231;331;331	ENSP00000364184:R231W;ENSP00000383311:R331W;ENSP00000247986:R331W	ENSP00000247986:R331W	R	-	1	2	KIF17	20903659	1.000000	0.71417	0.989000	0.46669	0.911000	0.54048	2.815000	0.48018	1.300000	0.44818	0.462000	0.41574	CGG		0.597	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21031072	G	A	21031072	3	1	62	1	0	0	0	0	1	0	0	0	8279	1115	39	2	2142	2	KIF17	1	21031072	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	9813841	21031072	228219549	2	4052											
ELTD1	64123	broad.mit.edu	37	chr1	79412033	79412033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccaggtacacacataCaataataacttccttctgtg	14	11	6	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	1	2	1	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:79412033C>G	ENST00000370742.3	-	3	314	c.251G>C	c.(250-252)tGt>tCt	p.C84S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	84	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.C84Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACACACATACAATAATAACT	0.363																																						uc001diq.4																			1	Substitution - Missense(1)	p.C84Y(2)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(250-252)tGt>tCt		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							92	88	89					1																	79412033		1891	4120	6011	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79412033C>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.251G>C	1.37:g.79412033C>G	ENSP00000359778:p.Cys84Ser						p.C84S	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	407	-			84			EGF-like 2; calcium-binding (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.251G>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343186	0.82022	.	.	ENSG00000162618	ENST00000370742	D	0.99429	-5.89	5.03	5.03	0.67393	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97177	0.9848	9	.	.	.	.	18.3639	0.90384	0.0:1.0:0.0:0.0	.	84	Q9HBW9	ELTD1_HUMAN	S	84	ENSP00000359778:C84S	.	C	-	2	0	ELTD1	79184621	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.837000	0.69381	2.324000	0.78689	0.650000	0.86243	TGT		0.363	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		G	79412033	C	G	79412033	3	3	62	1	0	0	0	0	1	0	0	0	5084	478	17	5	1873	5	ELTD1	1	79412033	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	58380961	79412033	169838588	3	4053											
ABCA4	24	broad.mit.edu	37	chr1	94543367	94543367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagaggaagtttaggAtggcttcagcagtaatacct	11	12	11	7	0	1	1	1	0	0	1	1	3	1	3	2	3	2	5	2	3	5	7			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:94543367A>T	ENST00000370225.3	-	11	1519	c.1433T>A	c.(1432-1434)aTc>aAc	p.I478N	ABCA4_ENST00000535735.1_Missense_Mutation_p.I478N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	478					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAAGTTTAGGATGGCTTCAGC	0.493																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1432-1434)aTc>aAc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							177	170	172					1																	94543367		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94543367A>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1433T>A	1.37:g.94543367A>T	ENSP00000359245:p.Ile478Asn					ABCA4_uc010otn.1_Missense_Mutation_p.I478N	p.I478N	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	10	1537	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	478					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1433T>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121902	0.56613	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.85339	-1.97;-1.97	5.24	2.71	0.32032	.	0.413350	0.24647	N	0.036749	D	0.83677	0.5306	M	0.73217	2.22	0.09310	N	1	P;B	0.52316	0.952;0.242	P;B	0.59056	0.851;0.105	T	0.76992	-0.2753	10	0.87932	D	0	.	8.4317	0.32761	0.815:0.0:0.185:0.0	.	478;478	F5H6E5;P78363	.;ABCA4_HUMAN	N	478	ENSP00000359245:I478N;ENSP00000437682:I478N	ENSP00000359245:I478N	I	-	2	0	ABCA4	94315955	0.268000	0.24133	0.000000	0.03702	0.877000	0.50540	4.636000	0.61339	0.357000	0.24183	0.533000	0.62120	ATC		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94543367	A	T	94543367	3	4	62	1	0	0	0	0	1	0	0	0	34	333	12	5	5548	5	ABCA4	1	94543367	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	15131334	94543367	154707254	4	4054											
ATP1A2	477	broad.mit.edu	37	chr1	160106156	160106156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagcatggcctacggacaGatcggtgcgccaagccccgg	9	5	13	14	4	1	1	1	0	0	1	2	2	1	2	4	4	4	1	4	4	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:160106156G>C	ENST00000361216.3	+	18	2648	c.2559G>C	c.(2557-2559)caG>caC	p.Q853H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q853H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	853					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTACGGACAGATCGGTGCGC	0.577																																						uc001fvc.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2557-2559)caG>caC		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							63	64	64					1																	160106156		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106156G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2559G>C	1.37:g.160106156G>C	ENSP00000354490:p.Gln853His					ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.3_Missense_Mutation_p.Q589H	p.Q853H	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		17	2691	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		853					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2559G>C	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.636324|2.636324	0.47049|0.47049	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.95980|.	-3.87;-3.87|.	4.71|4.71	3.79|3.79	0.43588|0.43588	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65801|0.65801	0.2726|0.2726	M|M	0.75264|0.75264	2.295|2.295	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.65815|.	0.993;0.995|.	D;D|.	0.72982|.	0.943;0.979|.	T|T	0.65981|0.65981	-0.6036|-0.6036	10|5	0.41790|.	T|.	0.15|.	.|.	12.5214|12.5214	0.56060|0.56060	0.0875:0.0:0.9125:0.0|0.0875:0.0:0.9125:0.0	.|.	753;853|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	H|T	853;853;556|564	ENSP00000354490:Q853H;ENSP00000376066:Q853H|.	ENSP00000354490:Q853H|.	Q|R	+|+	3|2	2|0	ATP1A2|ATP1A2	158372780|158372780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.447000|2.447000	0.44917|0.44917	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		C	160106156	G	C	160106156	3	2	62	1	0	0	0	0	1	0	0	0	1129	933	33	5	2629	5	ATP1A2	1	160106156	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	65562789	160106156	89144465	5	4055											
DUSP27	92235	broad.mit.edu	37	chr1	167064116	167064116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggacacagaggaggaGcaggtagtcccaagcgagga	16	2	16	7	1	0	2	0	0	0	2	1	7	1	6	1	5	2	2	1	5	3	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167064116G>A	ENST00000361200.2	+	2	196	c.30G>A	c.(28-30)gaG>gaA	p.E10E	DUSP27_ENST00000271385.5_Silent_p.E10E|DUSP27_ENST00000443333.1_Silent_p.E10E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	10					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGAGGAGGAGCAGGTAGTCC	0.547																																						uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(28-30)gaG>gaA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.							64	54	58					1																	167064116		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167064116G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.30G>A	1.37:g.167064116G>A							p.E10E	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			0	46	+			10					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.30G>A	CCDS30932.1																																																																																				0.547	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167064116	G	A	167064116	2	1	62	1	0	0	0	0	0	0	0	1	4824	962	34	3		3	DUSP27	1	167064116	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	6957960	167064116	82186505	6	4056											
DUSP27	92235	broad.mit.edu	37	chr1	167095182	167095182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcctgaagcagctgCgggagctcaatgagaagttg	10	8	15	8	1	1	2	1	2	0	1	2	4	2	3	1	2	4	5	1	2	3	2	rs370272310		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167095182C>T	ENST00000361200.2	+	6	980	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	DUSP27_ENST00000271385.5_Missense_Mutation_p.R272W|DUSP27_ENST00000443333.1_Missense_Mutation_p.R272W|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	272					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGCAGCTGCGGGAGCTCAA	0.582																																						uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(814-816)Cgg>Tgg		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.							68	70	70					1																	167095182		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095182C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.814C>T	1.37:g.167095182C>T	ENSP00000354483:p.Arg272Trp						p.R272W	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	830	+			272					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.814C>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123181	0.77436	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	D;D;D	0.85955	-2.05;-2.05;-2.05	5.55	4.56	0.56223	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92338	0.7569	M	0.86178	2.8	0.48135	D	0.999591	D	0.89917	1.0	D	0.97110	1.0	D	0.93238	0.6623	10	0.87932	D	0	-28.794	17.7161	0.88337	0.1623:0.8377:0.0:0.0	.	272	Q5VZP5	DUS27_HUMAN	W	272	ENSP00000354483:R272W;ENSP00000271385:R272W;ENSP00000404874:R272W	ENSP00000271385:R272W	R	+	1	2	DUSP27	165361806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.003000	0.40844	2.593000	0.87608	0.643000	0.83706	CGG		0.582	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167095182	C	T	167095182	3	4	62	1	0	0	0	0	1	0	0	0	4824	759	27	1	832	1	DUSP27	1	167095182	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	31066	167095182	82155439	7	4057											
NLRP3	114548	broad.mit.edu	37	chr1	247587535	247587535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctatatccactgtcgagagGtgagccttgtgacacagagg	10	10	12	9	1	1	4	0	2	1	2	3	5	2	4	2	2	1	0	2	2	2	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:247587535G>T	ENST00000336119.3	+	3	1536	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.V264L|NLRP3_ENST00000391827.2_Missense_Mutation_p.V264L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V264L|NLRP3_ENST00000348069.2_Missense_Mutation_p.V264L|NLRP3_ENST00000366496.2_Missense_Mutation_p.V264L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	264	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTCGAGAGGTGAGCCTTGT	0.537																																						uc001icr.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(790-792)Gtg>Ttg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							68	68	68					1																	247587535		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587535G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.790G>T	1.37:g.247587535G>T	ENSP00000337383:p.Val264Leu					NLRP3_uc001ics.3_Missense_Mutation_p.V264L|NLRP3_uc001icu.3_Missense_Mutation_p.V264L|NLRP3_uc001icw.3_Missense_Mutation_p.V264L|NLRP3_uc001icv.3_Missense_Mutation_p.V264L|NLRP3_uc010pyw.2_Missense_Mutation_p.V262L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L	p.V264L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	928	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	264			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.790G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	1.209	-0.630341	0.03610	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.04	1.06	0.20224	NACHT nucleoside triphosphatase (1);	0.292887	0.24793	N	0.035551	T	0.35422	0.0931	N	0.02111	-0.68	0.34866	D	0.743133	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.002;0.001;0.003	T	0.38520	-0.9657	10	0.02654	T	1	.	2.5958	0.04854	0.1045:0.1872:0.5147:0.1936	.	264;264;264;264;264	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	264	ENSP00000375704:V264L;ENSP00000355453:V264L;ENSP00000337383:V264L;ENSP00000294752:V264L;ENSP00000355452:V264L;ENSP00000375703:V264L	ENSP00000337383:V264L	V	+	1	0	NLRP3	245654158	1.000000	0.71417	0.998000	0.56505	0.140000	0.21249	1.201000	0.32259	0.250000	0.21479	-0.261000	0.10672	GTG		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247587535	G	T	247587535	3	4	62	1	0	0	0	0	1	0	0	0	10478	1261	44	5	800	5	NLRP3	1	247587535	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	80492353	247587535	1663086	8	4058											
SLC9A4	389015	broad.mit.edu	37	chr2	103095456	103095456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctcctgccacccatcGttctggagggcggctacttc	5	12	10	14	2	2	0	0	0	2	0	5	1	2	1	3	3	2	3	3	3	2	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:103095456G>A	ENST00000295269.4	+	2	872	c.415G>A	c.(415-417)Gtt>Att	p.V139I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	139					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCACCCATCGTTCTGGAGGG	0.617																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(415-417)Gtt>Att		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.							69	64	66					2																	103095456		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095456G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.415G>A	2.37:g.103095456G>A	ENSP00000295269:p.Val139Ile						p.V139I	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	872	+			139					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.415G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412111	0.25465	.	.	ENSG00000180251	ENST00000295269	T	0.13901	2.55	5.92	5.05	0.67936	Cation/H+ exchanger (1);	0.063660	0.64402	D	0.000005	T	0.05547	0.0146	N	0.04162	-0.26	0.42471	D	0.992825	B	0.22909	0.077	B	0.21360	0.034	T	0.17592	-1.0364	10	0.02654	T	1	.	11.6442	0.51250	0.1858:0.0:0.8142:0.0	.	139	Q6AI14	SL9A4_HUMAN	I	139	ENSP00000295269:V139I	ENSP00000295269:V139I	V	+	1	0	SLC9A4	102461888	1.000000	0.71417	0.968000	0.41197	0.911000	0.54048	3.315000	0.51951	1.509000	0.48786	0.655000	0.94253	GTT		0.617	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		A	103095456	G	A	103095456	3	1	62	1	0	0	0	0	1	0	0	0	14716	1145	40	1	421	1	SLC9A4	2	103095456	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		103095456	140103917	9	4059											
ANAPC1	64682	broad.mit.edu	37	chr2	112541977	112541977	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttcataccactgagtgcCctttacaaatgtaaaagtcc	12	13	6	10	0	1	1	1	1	0	0	2	1	2	1	3	0	3	2	3	0	5	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:112541977C>T	ENST00000341068.3	-	41	5690	c.4918G>A	c.(4918-4920)Ggc>Agc	p.G1640S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1640					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACTGAGTGCCCTTTACAAAT	0.458																																						uc002thi.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.e41-1		Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.							63	51	55					2																	112541977		2201	4280	6481	SO:0001630	splice_region_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112541977C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4918-1G>A	2.37:g.112541977C>T							p.G1640_splice	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			41	5165	-			1640					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4918_splice	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.61|16.61	3.170359|3.170359	0.57584|0.57584	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000028|0.000028	T|T	0.47229|0.47229	0.1434|0.1434	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.08055	.|0.003	T|T	0.44436|0.44436	-0.9328|-0.9328	6|9	.|0.06757	.|T	.|0.87	-12.5857|-12.5857	17.5134|17.5134	0.87766|0.87766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1640	.|Q9H1A4	.|APC1_HUMAN	E|S	1174|1640	.|.	.|ENSP00000339109:G1640S	G|G	-|-	2|1	0|0	ANAPC1|ANAPC1	112258448|112258448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	5.809000|5.809000	0.69172|0.69172	2.108000|2.108000	0.64289|0.64289	0.555000|0.555000	0.69702|0.69702	GGG|GGC		0.458	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	Missense_Mutation	T	112541977	C	T	112541977	5	4	62	1	0	0	0	0	0	0	1	0	598	637	22	3	948	3	ANAPC1	2	112541977	Splice_Site	SNP	C	TCGA-06-0747-01A-01W-0348-08	9446521	112541977	130657396	10	4060											
TTN	7273	broad.mit.edu	37	chr2	179542530	179542530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcttcctcaggtagaActtcctcttcctcaggtaga	7	14	6	14	0	4	2	2	0	2	2	8	2	8	2	4	2	1	2	4	2	3	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:179542530A>G	ENST00000591111.1	-	144	33382	c.33158T>C	c.(33157-33159)gTt>gCt	p.V11053A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10126A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V11370A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10191	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGTAGAACTTCCTCTTC	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30376-30378)gTt>gCt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							125	124	124					2																	179542530		1853	4086	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542530A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33158T>C	2.37:g.179542530A>G	ENSP00000465570:p.Val11053Ala					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.V10126A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30602	-			11053			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30377T>C		.	.	.	.	.	.	.	.	.	.	A	11.43	1.635845	0.29068	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	5.79	4.61	0.57282	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59046	0.2165	.	.	.	0.22656	N	0.998885	B	0.10296	0.003	B	0.06405	0.002	T	0.54417	-0.8297	8	0.87932	D	0	.	11.959	0.52997	0.9317:0.0:0.0683:0.0	.	11053	Q8WZ42	TITIN_HUMAN	A	10126	ENSP00000343764:V10126A	ENSP00000343764:V10126A	V	-	2	0	TTN	179250775	0.054000	0.20591	0.479000	0.27329	0.838000	0.47535	3.460000	0.53028	0.985000	0.38656	0.533000	0.62120	GTT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179542530	A	G	179542530	3	3	62	1	0	0	0	0	1	0	0	0	16732	43	2	4	70288	4	TTN	2	179542530	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	67000553	179542530	63656843	11	4061											
ALPI	248	broad.mit.edu	37	chr2	233323014	233323014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgacgccattgagagggCgggccagctcaccagcgagg	9	3	16	13	5	1	1	1	1	0	1	1	5	1	1	3	3	2	1	3	3	0	1	rs146257849	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:233323014C>T	ENST00000295463.3	+	9	1156	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	360					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATTGAGAGGGCGGGCCAGCTC	0.627													C|||	2	0.000399361	0	0	5008	,	,		18080	0		0.002	False		,,,				2504	0					uc002vst.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1078-1080)gCg>gTg		Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87	74	78		1079	4.5	0	2	dbSNP_134	78	5,8595	3.7+/-12.6	0,5,4295	yes	missense	ALPI	NM_001631.3	64	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	360/529	233323014	6,13000	2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323014C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1079C>T	2.37:g.233323014C>T	ENSP00000295463:p.Ala360Val					ALPI_uc002vsu.4_Missense_Mutation_p.A271V	p.A360V	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	8	1156	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	360					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.1079C>T	CCDS2492.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	27.8	4.864521	0.91511	2.27E-4	5.81E-4	ENSG00000163295	ENST00000295463	D	0.96396	-4.0	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.054525	0.64402	D	0.000001	D	0.97717	0.9251	M	0.75884	2.315	0.58432	D	0.999996	D	0.89917	1.0	D	0.73708	0.981	D	0.98331	1.0533	10	0.66056	D	0.02	.	15.8578	0.78994	0.0:1.0:0.0:0.0	.	360	P09923	PPBI_HUMAN	V	360	ENSP00000295463:A360V	ENSP00000295463:A360V	A	+	2	0	ALPI	233031258	1.000000	0.71417	0.020000	0.16555	0.013000	0.08279	4.780000	0.62382	2.318000	0.78349	0.561000	0.74099	GCG		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		T	233323014	C	T	233323014	3	4	62	1	0	0	0	0	1	0	0	0	543	768	27	1	1113	1	ALPI	2	233323014	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	53780484	233323014	9876359	12	4062											
PDCD1	5133	broad.mit.edu	37	chr2	242800933	242800933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaagaaccatcctggccGccagcccagttgtagcaccg	10	6	9	16	2	0	1	0	0	0	1	1	1	1	1	7	1	3	3	7	1	3	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:242800933G>A	ENST00000334409.5	-	1	127	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	20					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CATCCTGGCCGCCAGCCCAGT	0.677																																						uc002wcq.4																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(58-60)Cgg>Tgg		Homo sapiens programmed cell death 1 (PDCD1), mRNA.							37	36	36					2																	242800933		2195	4292	6487	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242800933G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.58C>T	2.37:g.242800933G>A	ENSP00000335062:p.Arg20Trp					PDCD1_uc010fzt.3_Non-coding_Transcript	p.R20W	NM_005018	NP_005009	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	0	126	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	20					O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.58C>T	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	10.47	1.359107	0.24598	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.67698	-0.28	3.31	-6.15	0.02105	.	1.517800	0.04795	N	0.432427	T	0.38585	0.1046	N	0.04880	-0.145	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.19257	-1.0311	10	0.49607	T	0.09	-0.7107	3.4871	0.07624	0.4071:0.0:0.3137:0.2791	.	20	Q15116	PDCD1_HUMAN	W	20	ENSP00000335062:R20W	ENSP00000335062:R20W	R	-	1	2	PDCD1	242449606	0.004000	0.15560	0.077000	0.20336	0.724000	0.41520	-1.052000	0.03503	-1.621000	0.01562	0.305000	0.20034	CGG		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		A	242800933	G	A	242800933	3	1	62	1	0	0	0	0	1	0	0	0	11615	1086	38	1	828	1	PDCD1	2	242800933	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	9477919	242800933	398440	13	4063											
ATP2B2	491	broad.mit.edu	37	chr3	10413514	10413514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatcttggtggtgtaggcGctgttgatggcgatggcatt	7	13	16	5	2	1	2	0	1	1	1	1	3	1	2	0	5	0	4	0	5	2	4	rs148841263	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:10413514G>A	ENST00000352432.4	-	11	1707	c.1638C>T	c.(1636-1638)agC>agT	p.S546S	ATP2B2_ENST00000360273.2_Silent_p.S546S|ATP2B2_ENST00000343816.4_Silent_p.S532S|ATP2B2_ENST00000383800.4_Silent_p.S501S|ATP2B2_ENST00000397077.1_Silent_p.S501S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	546					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGTGTAGGCGCTGTTGATGG	0.547													G|||	7	0.00139776	0.0053	0	5008	,	,		19399	0		0	False		,,,				2504	0				Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1636-1638)agC>agT		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.		G	,	16,4390	23.3+/-48.9	0,16,2187	151	129	137		1638,1503	2.5	1	3	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307	,	546/1244,501/1199	10413514	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413514G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1638C>T	3.37:g.10413514G>A						ATP2B2_uc003bvv.3_Silent_p.S501S|ATP2B2_uc003bvw.3_Silent_p.S501S|ATP2B2_uc010hdo.3_Silent_p.S251S	p.S546S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	2077	-			546					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1638C>T	CCDS33701.1																																																																																				0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10413514	G	A	10413514	2	1	62	1	0	0	0	0	0	0	0	1	1140	1078	38	1		1	ATP2B2	3	10413514	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08		10413514	187608916	14	4064											
NR2C2	7182	broad.mit.edu	37	chr3	15070193	15070193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgacacttcagaaatccAgccagaggaccagtctgcaa	13	6	10	12	1	2	3	1	1	1	2	3	4	3	4	3	2	2	1	3	2	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:15070193A>G	ENST00000425241.1	+	8	1261	c.899A>G	c.(898-900)cAg>cGg	p.Q300R	NR2C2_ENST00000393102.3_Missense_Mutation_p.Q300R|NR2C2_ENST00000406272.2_Missense_Mutation_p.Q300R|NR2C2_ENST00000323373.6_Missense_Mutation_p.Q319R|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	300					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGAAATCCAGCCAGAGGAC	0.542																																						uc003bzj.4																			0		p.V299A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(898-900)cAg>cGg		Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.							91	77	82					3																	15070193		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15070193A>G	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.899A>G	3.37:g.15070193A>G	ENSP00000388387:p.Gln300Arg					NR2C2_uc003bzi.3_Missense_Mutation_p.Q319R	p.Q300R	NM_003298	NP_003289	P49116	NR2C2_HUMAN			7	1116	+			300					A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.899A>G		.	.	.	.	.	.	.	.	.	.	A	14.98	2.696054	0.48202	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.81	3.34	0.38264	Nuclear hormone receptor, ligand-binding (1);	0.098571	0.64402	D	0.000001	D	0.89252	0.6662	L	0.50333	1.59	0.43399	D	0.995529	B;B	0.16603	0.0;0.018	B;B	0.14023	0.001;0.01	T	0.81176	-0.1052	10	0.12430	T	0.62	.	12.6703	0.56864	0.7389:0.261:0.0:0.0	.	300;319	P49116;F2YGU2	NR2C2_HUMAN;.	R	300;319;300;300	ENSP00000388387:Q300R;ENSP00000320447:Q319R;ENSP00000376814:Q300R;ENSP00000384463:Q300R	ENSP00000320447:Q319R	Q	+	2	0	NR2C2	15045197	1.000000	0.71417	0.977000	0.42913	0.961000	0.63080	5.584000	0.67490	0.422000	0.26005	0.482000	0.46254	CAG		0.542	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		G	15070193	A	G	15070193	3	3	62	1	0	0	0	0	1	0	0	0	10623	188	7	4	986	4	NR2C2	3	15070193	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	4656679	15070193	182952237	15	4065											
LRRC3B	116135	broad.mit.edu	37	chr3	26751737	26751737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaatgctgccaacgacGctgacctttgtaacctccct	8	11	6	16	2	1	1	1	1	0	0	3	2	3	1	5	0	4	3	5	0	3	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:26751737G>A	ENST00000396641.2	+	2	1166	c.574G>A	c.(574-576)Gct>Act	p.A192T	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.A192T|LRRC3B_ENST00000417744.1_Missense_Mutation_p.A192T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	192	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGCCAACGACGCTGACCTTTG	0.468																																						uc003cdp.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(574-576)Gct>Act		Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.							78	71	73					3																	26751737		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751737G>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.574G>A	3.37:g.26751737G>A	ENSP00000379880:p.Ala192Thr					LRRC3B_uc003cdq.3_Missense_Mutation_p.A192T|LRRC3B_uc021wuj.1_Missense_Mutation_p.A192T	p.A192T	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN			1	1163	+			192			LRRCT.		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.574G>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703768	0.30232	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.59083	0.29;0.29;0.29	6.17	6.17	0.99709	.	0.047974	0.85682	D	0.000000	T	0.37785	0.1016	N	0.04508	-0.205	0.58432	D	0.999999	B	0.19935	0.04	B	0.12156	0.007	T	0.27571	-1.0070	10	0.15499	T	0.54	-12.6247	19.8676	0.96824	0.0:0.0:1.0:0.0	.	192	Q96PB8	LRC3B_HUMAN	T	192	ENSP00000379880:A192T;ENSP00000406370:A192T;ENSP00000394940:A192T	ENSP00000379880:A192T	A	+	1	0	LRRC3B	26726741	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.564000	0.60830	2.941000	0.99782	0.655000	0.94253	GCT		0.468	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		A	26751737	G	A	26751737	3	1	62	1	0	0	0	0	1	0	0	0	8996	1087	38	1	576	1	LRRC3B	3	26751737	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	11681544	26751737	171270693	16	4066											
MST1R	4486	broad.mit.edu	37	chr3	49940194	49940194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactctggctcagtggcgctAagccgtgccaggcgtgtgtg	6	9	15	11	3	2	0	1	0	1	0	2	0	2	0	2	3	3	2	2	3	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:49940194A>G	ENST00000296474.3	-	1	876	c.849T>C	c.(847-849)ctT>ctC	p.L283L	CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Silent_p.L283L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	283	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTGGCGCTAAGCCGTGCCA	0.622																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(847-849)ctT>ctC		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							74	78	77					3																	49940194		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940194A>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.849T>C	3.37:g.49940194A>G						MST1R_uc011bdc.2_Silent_p.L283L|MST1R_uc011bdd.2_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.2_Silent_p.L283L	p.L283L	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	1113	-			283			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.849T>C	CCDS2807.1																																																																																				0.622	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			G	49940194	A	G	49940194	2	3	62	1	0	0	0	0	0	0	0	1	9891	349	13	4		4	MST1R	3	49940194	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	23188457	49940194	148082236	17	4067											
ITIH4	3700	broad.mit.edu	37	chr3	52851043	52851043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatgagaacccagccttCtccctctcatactggccagt	9	10	6	16	0	2	1	1	1	2	1	5	2	3	1	5	1	3	0	5	1	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:52851043C>T	ENST00000266041.4	-	21	2424	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	ITIH4_ENST00000406595.1_Silent_p.E746E|ITIH4_ENST00000485816.1_Silent_p.E781E|ITIH4_ENST00000346281.5_Silent_p.E760E|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	776					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCCAGCCTTCTCCCTCTCAT	0.592																																						uc011bem.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2341-2343)gaG>gaA		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.							112	114	113					3																	52851043		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52851043C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2328G>A	3.37:g.52851043C>T						ITIH4_uc011bel.2_Silent_p.E490E|ITIH4_uc003dfy.3_Silent_p.E571E|ITIH4_uc003dfz.3_Silent_p.E776E|ITIH4_uc011ben.2_Silent_p.E746E	p.E781E	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	20	2371	-			776					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.2343G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.608871	0.00842	.	.	ENSG00000055955	ENST00000441637	T	0.11712	2.75	4.83	2.46	0.29980	.	1.363480	0.04608	N	0.399859	T	0.06462	0.0166	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32079	-0.9920	7	0.19147	T	0.46	-8.3478	4.0104	0.09619	0.0:0.5975:0.2338:0.1686	.	.	.	.	K	565	ENSP00000395634:E565K	ENSP00000395634:E565K	E	-	1	0	ITIH4	52826083	0.001000	0.12720	0.074000	0.20217	0.021000	0.10359	-0.295000	0.08298	2.239000	0.73571	0.561000	0.74099	GAA		0.592	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52851043	C	T	52851043	2	4	62	1	0	0	0	0	0	0	0	1	7906	912	32	3		3	ITIH4	3	52851043	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	2910849	52851043	145171387	18	4068											
ARL6	84100	broad.mit.edu	37	chr3	97506846	97506846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttagatattaaacaccGtcgaattccaatcttattct	12	17	3	9	2	3	1	0	0	3	1	5	2	4	1	2	0	1	0	2	0	7	7			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:97506846G>A	ENST00000463745.1	+	6	839	c.362G>A	c.(361-363)cGt>cAt	p.R121H	ARL6_ENST00000335979.2_Missense_Mutation_p.R121H|ARL6_ENST00000394206.1_Missense_Mutation_p.R121H|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	121					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATTAAACACCGTCGAATTCCA	0.323																																						uc003drv.3																			0				large_intestine(1)|lung(4)	5						c.(361-363)cGt>cAt		Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.							72	74	73					3																	97506846		2202	4297	6499	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97506846G>A	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.362G>A	3.37:g.97506846G>A	ENSP00000419619:p.Arg121His					ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.R121H|ARL6_uc010hoy.3_Missense_Mutation_p.R121H	p.R121H	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	6	675	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	121					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.362G>A	CCDS2928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.461017|4.461017	0.84317|0.84317	.|.	.|.	ENSG00000113966|ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206|ENST00000476753	D;T;D;D|.	0.82619|.	-1.63;-1.21;-1.63;-1.63|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Small GTP-binding protein domain (1);|.	0.110332|.	0.64402|.	D|.	0.000011|.	T|T	0.76234|0.76234	0.3959|0.3959	M|M	0.74467|0.74467	2.265|2.265	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.67145|.	0.996|.	B|.	0.43301|.	0.415|.	T|T	0.75496|0.75496	-0.3297|-0.3297	10|5	0.87932|.	D|.	0|.	.|.	17.5189|17.5189	0.87782|0.87782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121|.	Q9H0F7|.	ARL6_HUMAN|.	H|I	121|16	ENSP00000419619:R121H;ENSP00000418740:R121H;ENSP00000337722:R121H;ENSP00000377756:R121H|.	ENSP00000337722:R121H|.	R|V	+|+	2|1	0|0	ARL6|ARL6	98989536|98989536	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.898000|0.898000	0.52572|0.52572	4.926000|4.926000	0.63433|0.63433	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.323	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		A	97506846	G	A	97506846	3	1	62	1	0	0	0	0	1	0	0	0	941	1145	40	1	380	1	ARL6	3	97506846	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	44655803	97506846	100515584	19	4069											
OR5K1	26339	broad.mit.edu	37	chr3	98189167	98189167	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactttttgtcagtttcAttattctatggatctctttt	6	22	4	9	0	4	0	2	0	2	0	6	1	5	1	1	1	0	1	1	1	2	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98189167A>G	ENST00000332650.5	+	1	844	c.747A>G	c.(745-747)tcA>tcG	p.S249S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTCAGTTTCATTATTCTATG	0.333																																						uc003dsm.3																			0		p.S249L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(745-747)tcA>tcG		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							98	101	100					3																	98189167		2185	4293	6478	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189167A>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.747A>G	3.37:g.98189167A>G							p.S249S	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	747	+			249					B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.747A>G	CCDS43115.1																																																																																				0.333	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			G	98189167	A	G	98189167	2	3	62	1	0	0	0	0	0	0	0	1	11166	204	8	4		4	OR5K1	3	98189167	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	682321	98189167	99833263	20	4070											
ST3GAL6	10402	broad.mit.edu	37	chr3	98507190	98507190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactaatggtttttggaaGaaaccagccttaaacctgat	15	11	7	8	0	0	2	0	1	0	1	0	3	0	3	3	2	4	1	3	2	6	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98507190G>C	ENST00000483910.1	+	8	928	c.639G>C	c.(637-639)aaG>aaC	p.K213N	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.K95N|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.K213N|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	213					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GTTTTTGGAAGAAACCAGCCT	0.323																																						uc003dtc.3																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(637-639)aaG>aaC		Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.							84	92	89					3																	98507190		2202	4300	6502	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98507190G>C	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.639G>C	3.37:g.98507190G>C	ENSP00000417376:p.Lys213Asn					ST3GAL6_uc003dsy.3_Missense_Mutation_p.K127N|ST3GAL6_uc003dsz.3_Missense_Mutation_p.K213N|ST3GAL6_uc003dta.3_Missense_Mutation_p.K95N|ST3GAL6_uc010hpd.3_Missense_Mutation_p.K266N	p.K213N	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			8	1106	+			213					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.639G>C	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833741	0.71258	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.84	4.84	0.62591	.	0.153008	0.45606	D	0.000357	T	0.56543	0.1992	M	0.87547	2.89	0.45066	D	0.998087	D;P;P	0.63880	0.993;0.954;0.619	P;P;P	0.58873	0.824;0.847;0.515	T	0.63510	-0.6621	10	0.56958	D	0.05	-28.4486	15.8184	0.78621	0.0:0.0:1.0:0.0	.	236;95;213	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	N	213;95;213;213;181;236;127	ENSP00000417376:K213N;ENSP00000265261:K95N;ENSP00000418896:K213N;ENSP00000377717:K213N;ENSP00000418650:K181N;ENSP00000417201:K236N;ENSP00000419202:K127N	ENSP00000265261:K95N	K	+	3	2	ST3GAL6	99989880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.445000	0.52921	2.671000	0.90904	0.563000	0.77884	AAG		0.323	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		C	98507190	G	C	98507190	3	2	62	1	0	0	0	0	1	0	0	0	15218	933	33	5	665	5	ST3GAL6	3	98507190	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	318023	98507190	99515240	21	4071											
MYLK	4638	broad.mit.edu	37	chr3	123428617	123428617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacctgacacttggacaGtcatagtgacctggcttcca	11	9	9	12	0	1	3	1	2	0	1	2	4	2	4	3	2	0	1	3	2	1	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:123428617G>C	ENST00000475616.1	-	11	1927	c.1928C>G	c.(1927-1929)aCt>aGt	p.T643S	MYLK_ENST00000360772.3_Missense_Mutation_p.T643S|MYLK_ENST00000359169.1_Missense_Mutation_p.T643S|MYLK_ENST00000360304.3_Missense_Mutation_p.T643S|MYLK_ENST00000346322.5_Missense_Mutation_p.T574S			Q15746	MYLK_HUMAN	myosin light chain kinase	643	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CACTTGGACAGTCATAGTGAC	0.532																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1927-1929)aCt>aGt		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							251	267	262					3																	123428617		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123428617G>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1928C>G	3.37:g.123428617G>C	ENSP00000418335:p.Thr643Ser					MYLK_uc011bjw.2_Missense_Mutation_p.T643S|MYLK_uc003egp.3_Missense_Mutation_p.T574S|MYLK_uc003egq.3_Missense_Mutation_p.T643S|MYLK_uc003egr.3_Missense_Mutation_p.T574S|MYLK_uc003egs.3_Missense_Mutation_p.T467S	p.T643S	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	13	2210	-		Lung NSC(201;0.0496)	643			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1928C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201836	0.58234	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63165	0.2488	N	0.11560	0.145	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.947;0.997;0.999;0.999	D;P;D;D;D	0.83275	0.993;0.908;0.984;0.991;0.996	T	0.57406	-0.7817	9	0.09338	T	0.73	.	14.2295	0.65882	0.0:0.1491:0.8509:0.0	.	643;574;643;574;643	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	S	643;643;643;574;643	ENSP00000354004:T643S;ENSP00000353452:T643S;ENSP00000352088:T643S;ENSP00000320622:T574S;ENSP00000418335:T643S	ENSP00000320622:T574S	T	-	2	0	MYLK	124911307	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.749000	0.68704	2.622000	0.88805	0.650000	0.86243	ACT		0.532	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		C	123428617	G	C	123428617	3	2	62	1	0	0	0	0	1	0	0	0	10056	1029	36	5	3900	5	MYLK	3	123428617	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	24921427	123428617	74593813	22	4072											
TRIM42	287015	broad.mit.edu	37	chr3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaactgctatgtgcGtttgctgtccatgttgtaca	8	14	10	9	1	0	0	0	0	0	0	1	1	1	1	2	1	5	5	2	1	3	4	rs116143762		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	7	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507																																						uc003eto.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(19-21)Gtt>Att		Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	368	307	328		19	0.6	1	3	dbSNP_132	328	0,8600		0,0,4300	no	missense	TRIM42	NM_152616.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	7/724	140397090	1,13005	2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397090G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.19G>A	3.37:g.140397090G>A	ENSP00000286349:p.Val7Ile						p.V7I	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			0	225	+			7			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.19G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838139	0.16891	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.37411	1.2	5.37	0.561	0.17285	.	0.904453	0.09312	N	0.819434	T	0.14874	0.0359	N	0.03608	-0.345	0.20764	N	0.999857	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	10	0.29301	T	0.29	-13.3898	5.8185	0.18514	0.1808:0.4034:0.4158:0.0	.	7	Q8IWZ5	TRI42_HUMAN	I	7	ENSP00000286349:V7I	ENSP00000286349:V7I	V	+	1	0	TRIM42	141879780	0.019000	0.18553	0.964000	0.40570	0.414000	0.31173	0.278000	0.18753	0.657000	0.30906	-0.214000	0.12660	GTT		0.507	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		A	140397090	G	A	140397090	3	1	62	1	0	0	0	0	1	0	0	0	16514	1145	40	1	21	1	TRIM42	3	140397090	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	16968473	140397090	57625340	23	4073											
ZIC4	84107	broad.mit.edu	37	chr3	147114065	147114065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggcagctgccagggCgtcgctgcgggccgcaggcc	3	4	19	15	5	0	0	0	0	0	0	1	0	0	0	3	5	4	5	3	5	0	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:147114065C>T	ENST00000383075.3	-	3	774	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.A126T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A88T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A88T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A138T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	88	Poly-Ala.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A88S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCCAGGGCGTCGCTGCGG	0.701																																						uc011bno.2																			1	Substitution - Missense(1)	p.A88S(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(412-414)Gcc>Acc		Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.							11	14	13					3																	147114065		1998	4151	6149	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114065C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.262G>A	3.37:g.147114065C>T	ENSP00000372553:p.Ala88Thr					ZIC4_uc003ewc.2_Missense_Mutation_p.A18T|ZIC4_uc021xff.1_Missense_Mutation_p.A126T|ZIC4_uc003ewd.2_Missense_Mutation_p.A88T|ZIC4_uc021xfg.1_Intron	p.A138T	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN			2	598	-			88					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.412G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419041	0.42918	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	4.98	0.736	0.18307	.	0.320500	0.22453	N	0.059871	T	0.09598	0.0236	N	0.02011	-0.69	0.80722	D	1	B;B	0.23650	0.089;0.007	B;B	0.13407	0.009;0.003	T	0.09997	-1.0649	10	0.17369	T	0.5	.	1.6191	0.02710	0.2391:0.4205:0.1009:0.2395	.	138;88	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	88;126;138;88;88;88	ENSP00000372553:A88T;ENSP00000397695:A126T;ENSP00000435509:A138T;ENSP00000417855:A88T;ENSP00000420775:A88T;ENSP00000420627:A88T	ENSP00000372553:A88T	A	-	1	0	ZIC4	148596755	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.915000	0.56409	0.488000	0.27723	-0.258000	0.10820	GCC		0.701	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			T	147114065	C	T	147114065	3	4	62	1	0	0	0	0	1	0	0	0	17678	768	27	1	754	1	ZIC4	3	147114065	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	6716975	147114065	50908365	24	4074											
VPS8	23355	broad.mit.edu	37	chr3	184571960	184571960	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacttttccctatggccGggtgagtacgtccctccatc	6	12	10	13	2	0	2	0	2	0	0	4	3	3	2	4	2	1	1	4	2	2	4	rs201816956		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:184571960G>A	ENST00000437079.3	+	13	1205	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	VPS8_ENST00000436792.2_Splice_Site_p.R343Q|VPS8_ENST00000446204.2_Splice_Site_p.R343Q|VPS8_ENST00000287546.4_Splice_Site_p.R345Q	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	345							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCCTATGGCCGGGTGAGTACG	0.413																																						uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.e12+1		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	0,3812		0,0,1906	79	73	75		1034,1028	5	1	3		75	1,8257		0,1,4128	yes	missense-near-splice,missense-near-splice	VPS8	NM_001009921.2,NM_015303.3	43,43	0,1,6034	AA,AG,GG		0.0121,0.0,0.0083	benign,benign	345/1429,343/1427	184571960	1,12069	1906	4129	6035	SO:0001630	splice_region_variant	23355						zinc ion binding	g.chr3:184571960G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1035+1G>A	3.37:g.184571960G>A						VPS8_uc003fpb.1_Splice_Site_p.R343_splice|VPS8_uc010hyd.1_Splice_Site_p.R343_splice	p.R345_splice	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		12	1123	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		345					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.1035_splice	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730114	0.48939	0.0	1.21E-4	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.04	5.04	0.67666	.	0.060399	0.64402	D	0.000003	T	0.14056	0.0340	N	0.08118	0	0.45930	D	0.998763	D;P	0.56521	0.976;0.766	P;B	0.45639	0.488;0.078	T	0.13495	-1.0507	10	0.11794	T	0.64	-14.0754	18.4014	0.90518	0.0:0.0:1.0:0.0	.	343;343	Q8N3P4-2;Q8N3P4-3	.;.	Q	345;345;343;343	ENSP00000287546:R345Q;ENSP00000397879:R345Q;ENSP00000404704:R343Q;ENSP00000405483:R343Q	ENSP00000287546:R345Q	R	+	2	0	VPS8	186054654	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.509000	0.81698	2.317000	0.78254	0.563000	0.77884	CGG		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	Missense_Mutation	A	184571960	G	A	184571960	5	1	62	1	0	0	0	0	0	0	1	0	17215	1130	39	2	1076	2	VPS8	3	184571960	Splice_Site	SNP	G	TCGA-06-0747-01A-01W-0348-08	37457895	184571960	13450470	25	4075											
TLR6	10333	broad.mit.edu	37	chr4	38830788	38830788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagataaatccaaatattCtaaatcctggttgaacttga	16	13	6	6	0	1	3	0	3	1	1	3	4	3	3	2	1	1	1	2	1	7	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:38830788C>T	ENST00000381950.1	-	1	372	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TLR6_ENST00000436693.2_Missense_Mutation_p.E103K			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	103					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAAATATTCTAAATCCTGG	0.363																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(307-309)Gaa>Aaa		Homo sapiens toll-like receptor 6 (TLR6), mRNA.							47	47	47					4																	38830788		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830788C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.307G>A	4.37:g.38830788C>T	ENSP00000371376:p.Glu103Lys					TLR6_uc003gtm.3_Missense_Mutation_p.E103K	p.E103K	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	428	-			103					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.307G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111187	0.94339	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542;ENST00000508254	T;T;T	0.56444	0.46;0.46;0.46	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.65344	0.2682	L	0.46670	1.46	0.58432	D	0.999999	P	0.50272	0.933	P	0.58391	0.838	T	0.65471	-0.6160	10	0.59425	D	0.04	.	19.5078	0.95127	0.0:1.0:0.0:0.0	.	103	Q9Y2C9	TLR6_HUMAN	K	103	ENSP00000389600:E103K;ENSP00000371376:E103K;ENSP00000424718:E103K	ENSP00000371376:E103K	E	-	1	0	TLR6	38507183	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	3.371000	0.52379	2.602000	0.87976	0.561000	0.74099	GAA		0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			T	38830788	C	T	38830788	3	4	62	1	0	0	0	0	1	0	0	0	15952	922	32	3	2087	3	TLR6	4	38830788	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		38830788	152323488	26	4076											
PRDM8	56978	broad.mit.edu	37	chr4	81123201	81123201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagacgaacaaggcggCggcgtgggcaccaaggacca	12	1	14	14	4	0	1	0	0	0	1	0	3	0	2	4	5	1	1	4	5	4	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:81123201C>T	ENST00000504452.1	+	8	1424	c.585C>T	c.(583-585)ggC>ggT	p.G195G	PRDM8_ENST00000339711.4_Silent_p.G195G|PRDM8_ENST00000415738.2_Silent_p.G195G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	195	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						AACAAggcggcggcgtgggca	0.617											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ijo.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(583-585)ggC>ggT		Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.							48	56	54					4																	81123201		2018	4170	6188	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123201C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.585C>T	4.37:g.81123201C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_uc003hmb.4_Silent_p.G195G|PRDM8_uc003hmc.4_Silent_p.G195G	p.G195G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			7	1424	+			195			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.585C>T	CCDS43243.1																																																																																				0.617	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			T	81123201	C	T	81123201	2	4	62	1	0	0	0	0	0	0	0	1	12462	755	27	1		1	PRDM8	4	81123201	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	42292413	81123201	110031075	27	4077											
HHIP	64399	broad.mit.edu	37	chr4	145580881	145580881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggggatggctcgcaacGtctcttcattctggaaaaag	10	11	12	8	2	3	0	1	0	2	0	5	2	3	2	0	4	1	2	0	4	4	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:145580881G>A	ENST00000296575.3	+	4	1377	c.722G>A	c.(721-723)cGt>cAt	p.R241H	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R241H|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	241					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCTCGCAACGTCTCTTCATT	0.453																																						uc003ijs.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(721-723)cGt>cAt		Homo sapiens hedgehog interacting protein (HHIP), mRNA.							123	131	128					4																	145580881		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580881G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.722G>A	4.37:g.145580881G>A	ENSP00000296575:p.Arg241His					HHIP_uc003ijr.2_Missense_Mutation_p.R241H	p.R241H	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	3	1402	+	all_hematologic(180;0.151)		241					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.722G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289191	0.95517	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.78924	2.75;-1.22	5.54	5.54	0.83059	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91774	0.5430	10	0.87932	D	0	-18.1383	19.4725	0.94969	0.0:0.0:1.0:0.0	.	241;241	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	H	241	ENSP00000296575:R241H;ENSP00000408587:R241H	ENSP00000296575:R241H	R	+	2	0	HHIP	145800331	1.000000	0.71417	0.916000	0.36221	0.983000	0.72400	9.869000	0.99810	2.620000	0.88729	0.555000	0.69702	CGT		0.453	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			A	145580881	G	A	145580881	3	1	62	1	0	0	0	0	1	0	0	0	7092	1145	40	1	736	1	HHIP	4	145580881	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	64457680	145580881	45573395	28	4078											
HCN1	348980	broad.mit.edu	37	chr5	45262309	45262309	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatcagagtggacaccTcatggggcagcgagggctgc	10	6	16	9	1	2	1	2	0	0	1	2	4	2	3	1	5	2	2	1	5	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:45262309T>A	ENST00000303230.4	-	8	2444	c.2387A>T	c.(2386-2388)gAg>gTg	p.E796V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	796					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTGGACACCTCATGGGGCAG	0.632																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2386-2388)gAg>gTg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							55	53	53					5																	45262309		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262309T>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2387A>T	5.37:g.45262309T>A	ENSP00000307342:p.Glu796Val						p.E796V	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2412	-			796						Missense_Mutation	SNP	ENST00000303230.4	37	c.2387A>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668791	0.67814	.	.	ENSG00000164588	ENST00000303230	T	0.76839	-1.05	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000005	T	0.73745	0.3626	N	0.24115	0.695	0.54753	D	0.999983	D	0.57899	0.981	P	0.52109	0.69	T	0.73493	-0.3965	10	0.32370	T	0.25	.	15.0491	0.71850	0.0:0.0:0.0:1.0	.	796	O60741	HCN1_HUMAN	V	796	ENSP00000307342:E796V	ENSP00000307342:E796V	E	-	2	0	HCN1	45298066	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.973000	0.70456	2.016000	0.59253	0.533000	0.62120	GAG		0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262309	T	A	45262309	3	1	62	1	0	0	0	0	1	0	0	0	6996	1551	54	5	289	5	HCN1	5	45262309	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08		45262309	135652951	29	4079											
PJA2	9867	broad.mit.edu	37	chr5	108680493	108680493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccacctcaacatccactgCaagagactctaaatgggcca	13	6	8	14	0	2	1	1	0	1	1	3	2	3	1	4	2	2	1	4	2	4	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:108680493C>A	ENST00000361189.2	-	8	2031	c.1792G>T	c.(1792-1794)Gca>Tca	p.A598S	PJA2_ENST00000361557.3_Missense_Mutation_p.A598S	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	598	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATCCACTGCAAGAGACTCT	0.408																																						uc003kos.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1792-1794)Gca>Tca		Homo sapiens praja ring finger 2 (PJA2), mRNA.							111	113	113					5																	108680493		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108680493C>A	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1792G>T	5.37:g.108680493C>A	ENSP00000354775:p.Ala598Ser						p.A598S	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	7	2012	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	598			Interaction with PRKAR1A, PRKAR2A and PRKAR2B.		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1792G>T	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613468	0.66672	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11063	2.81;2.81	5.98	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.19406	0.0466	L	0.29908	0.895	0.41741	D	0.98961	D	0.64830	0.994	D	0.64410	0.925	T	0.00248	-1.1880	10	0.56958	D	0.05	-19.0524	12.8316	0.57748	0.0:0.8719:0.0:0.1281	.	598	O43164	PJA2_HUMAN	S	598	ENSP00000354775:A598S;ENSP00000355284:A598S	ENSP00000354775:A598S	A	-	1	0	PJA2	108708392	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.299000	0.51826	2.838000	0.97847	0.591000	0.81541	GCA		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		A	108680493	C	A	108680493	3	1	62	1	0	0	0	0	1	0	0	0	11962	710	25	5	346	5	PJA2	5	108680493	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	63418184	108680493	72234767	30	4080											
GNPDA1	10007	broad.mit.edu	37	chr5	141385836	141385838	+	In_Frame_Del	DEL	GAA	GAA	-																															gggtggatgtcaatgtgcttGaagaagttgttccacatgaa																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:141385836_141385838delGAA	ENST00000508177.1	-	3	1038_1040	c.280_282delTTC	c.(280-282)ttcdel	p.F94del	GNPDA1_ENST00000500692.2_In_Frame_Del_p.F94del|GNPDA1_ENST00000311337.6_In_Frame_Del_p.F94del|GNPDA1_ENST00000503794.1_In_Frame_Del_p.F94del|GNPDA1_ENST00000513454.1_In_Frame_Del_p.F94del|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_In_Frame_Del_p.F60del			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	94					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTGCTTGAAGAAGTTGTTC	0.527																																						uc003lmf.4																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(280-282)ttcdel		Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.																																				SO:0001651	inframe_deletion	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141385836_141385838delGAA	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.280_282delTTC	5.37:g.141385839_141385841delGAA	ENSP00000423674:p.Phe94del					GNPDA1_uc003lmg.4_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.3_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.4_In_Frame_Del_p.F60del	p.F94del	NM_005471	NP_005462	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1039_1041	-		all_hematologic(541;0.118)	94					B7Z3X4|D3DQE7	In_Frame_Del	DEL	ENST00000508177.1	37	c.280_282delTTC	CCDS4272.1																																																																																				0.527	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		-	141385838	GAA	-	141385836	7	5	62	1	0	1	0	1	0	0	0	0	6542	1281	45	0	603	0	GNPDA1	5	141385836	In_Frame_Del	DEL	GAA	TCGA-06-0747-01A-01W-0348-08	32705343	141385836	39529424	31	4081											
CPEB4	80315	broad.mit.edu	37	chr5	173317554	173317554	+	Frame_Shift_Del	DEL	A	A	-																															tgcttttaaccagctgcctcAtttggcgaataatcttaaca																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:173317554delA	ENST00000265085.5	+	1	2272	c.818delA	c.(817-819)catfs	p.H273fs	CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.H273fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.H273fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.H273fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	273					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGCCTCATTTGGCGAAT	0.557																																						uc003mcs.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(817-819)catfs		Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.							192	204	200					5																	173317554		2203	4300	6503	SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173317554delA	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.818delA	5.37:g.173317554delA	ENSP00000265085:p.His273fs					CPEB4_uc010jju.2_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.H273fs|CPEB4_uc003mcu.4_5'Flank	p.H273fs	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		0	2224	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	273					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	c.818delA	CCDS4390.1																																																																																				0.557	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		-	173317554	A	-	173317554	7	5	62	1	0	1	0	1	0	0	0	0	3803	217	8	0	820	0	CPEB4	5	173317554	Frame_Shift_Del	DEL	A	TCGA-06-0747-01A-01W-0348-08	31931718	173317554	7597706	32	4082											
PRSS16	10279	broad.mit.edu	37	chr6	27220721	27220721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcagacatgtaccgagttCggcttctgtaagtgactggc	9	12	11	9	2	2	2	1	1	1	1	3	3	2	2	1	2	1	4	1	2	3	5	rs191407230	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:27220721C>T	ENST00000230582.3	+	9	1158	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	PRSS16_ENST00000421826.2_Silent_p.F124F|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	381					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.F381F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTACCGAGTTCGGCTTCTGTA	0.507													C|||	2	0.000399361	0.0015	0	5008	,	,		21194	0		0	False		,,,				2504	0				NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.3																			1	Substitution - coding silent(1)	p.F381F(2)	large_intestine(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1141-1143)ttC>ttT		Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	209	178	188		1143	-7.3	0.9	6		188	0,8600		0,0,4300	no	coding-synonymous	PRSS16	NM_005865.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		381/515	27220721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27220721C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1143C>T	6.37:g.27220721C>T						PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.F124F|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njd.3_Intron	p.F381F	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			8	1158	+			381					O75416	Silent	SNP	ENST00000230582.3	37	c.1143C>T	CCDS4623.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.864	0.947645	0.18356	2.27E-4	0.0	ENSG00000112812	ENST00000485993;ENST00000475106	.	.	.	4.26	-7.33	0.01431	.	.	.	.	.	T	0.37293	0.0998	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56896	-0.7903	4	.	.	.	-26.3792	11.6689	0.51389	0.0:0.535:0.0:0.465	.	.	.	.	W	134;160	.	.	R	+	1	2	PRSS16	27328700	0.105000	0.21958	0.949000	0.38748	0.911000	0.54048	-2.253000	0.01184	-1.143000	0.02866	-1.012000	0.02466	CGG		0.507	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			T	27220721	C	T	27220721	2	4	62	1	0	0	0	0	0	0	0	1	12616	883	31	2		2	PRSS16	6	27220721	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08		27220721	143894346	33	4083											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34838669	34838669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaactttgaagactggcCacatcaggccagctgtgggc	9	8	11	13	0	2	2	2	1	0	1	2	2	2	2	3	3	2	1	3	3	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:34838669C>T	ENST00000192788.5	+	18	3928	c.3757C>T	c.(3757-3759)Cac>Tac	p.H1253Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.H1253Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1253							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAAGACTGGCCACATCAGGCC	0.498																																						uc003oju.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3757-3759)Cac>Tac		Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.							74	74	74					6																	34838669		1922	4136	6058	SO:0001583	missense	54887							g.chr6:34838669C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3757C>T	6.37:g.34838669C>T	ENSP00000192788:p.His1253Tyr					UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	p.H1253Y	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			17	3991	+			1253					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3757C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	0.486	-0.877666	0.02550	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08102	3.13;3.13	5.27	-1.69	0.08186	.	0.886574	0.10291	N	0.692343	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.47368	-0.9123	10	0.38643	T	0.18	-0.458	3.2135	0.06691	0.1719:0.4984:0.088:0.2418	.	1253	Q6BDS2	URFB1_HUMAN	Y	1253	ENSP00000192788:H1253Y;ENSP00000400628:H1253Y	ENSP00000192788:H1253Y	H	+	1	0	UHRF1BP1	34946647	0.000000	0.05858	0.018000	0.16275	0.285000	0.27093	-0.328000	0.07945	-0.254000	0.09500	-0.797000	0.03246	CAC		0.498	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34838669	C	T	34838669	3	4	62	1	0	0	0	0	1	0	0	0	16965	594	21	3	3827	3	UHRF1BP1	6	34838669	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	7617948	34838669	136276398	34	4084											
EEF1A1	1915	broad.mit.edu	37	chr6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacacccaccgcaactGtctgtctcatatcacgaaca	12	9	6	14	2	3	2	2	2	2	0	4	3	3	2	2	0	2	1	2	0	3	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:74227627G>A	ENST00000316292.9	-	7	2286	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432I|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432I	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACCGCAACTGTCTGTCTCAT	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(1294-1296)aCa>aTa		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							41	44	43					6																	74227627		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74227627G>A	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1295C>T	6.37:g.74227627G>A	ENSP00000339063:p.Thr432Ile		OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.T432I|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron	p.T432I	NM_001402	NP_001393	P68104	EF1A1_HUMAN			6	2287	-			432					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.1295C>T	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257171	0.80246	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.56275	0.47;0.47;0.47	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.80401	0.4616	H	0.98936	4.375	0.80722	D	1	D;D;D	0.52996	0.957;0.957;0.957	P;P;P	0.59948	0.866;0.866;0.866	D	0.88863	0.3327	10	0.87932	D	0	.	18.3119	0.90203	0.0:0.0:1.0:0.0	.	432;432;432	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	I	432;432;432;411	ENSP00000339063:T432I;ENSP00000339053:T432I;ENSP00000330054:T432I	ENSP00000339053:T432I	T	-	2	0	EEF1A1	74284348	1.000000	0.71417	0.976000	0.42696	0.877000	0.50540	9.332000	0.96446	2.381000	0.81170	0.556000	0.70494	ACA		0.403	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		A	74227627	G	A	74227627	3	1	62	1	0	0	0	0	1	0	0	0	4923	1377	48	3	97	3	EEF1A1	6	74227627	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	39388958	74227627	96887440	35	4085											
TMEM30A	55754	broad.mit.edu	37	chr6	75968538	75968538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcggccagctggtaatgttgGatgtaaatcacttttccttt	8	16	9	8	1	1	0	1	0	0	0	3	1	2	1	2	3	1	4	2	3	3	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:75968538G>C	ENST00000230461.6	-	6	1179	c.850C>G	c.(850-852)Cca>Gca	p.P284A	TMEM30A_ENST00000370050.5_Missense_Mutation_p.P165A|TMEM30A_ENST00000475111.2_Missense_Mutation_p.P248A	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	284					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTAATGTTGGATGTAAATCA	0.388																																						uc003phw.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(850-852)Cca>Gca		Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.							99	95	96					6																	75968538		2203	4300	6503	SO:0001583	missense	55754					integral to membrane		g.chr6:75968538G>C	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.850C>G	6.37:g.75968538G>C	ENSP00000230461:p.Pro284Ala					TMEM30A_uc003phx.2_Missense_Mutation_p.P248A	p.P284A	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN			5	1128	-			284					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.850C>G	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204168	0.38905	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	L	0.27975	0.815	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.011;0.012	T	0.32561	-0.9902	9	0.11485	T	0.65	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	248;284	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	A	284;268;165;248	.	ENSP00000230461:P284A	P	-	1	0	TMEM30A	76025258	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.357000	0.97099	2.605000	0.88082	0.591000	0.81541	CCA		0.388	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		C	75968538	G	C	75968538	3	2	62	1	0	0	0	0	1	0	0	0	16150	1174	41	5	243	5	TMEM30A	6	75968538	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	1740911	75968538	95146529	36	4086											
TTK	7272	broad.mit.edu	37	chr6	80746263	80746263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaagctaattgattttGggattgcaaaccaaatgcaa	15	12	8	6	0	0	1	0	1	0	0	0	2	0	2	1	1	5	4	1	1	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:80746263G>C	ENST00000369798.2	+	17	2107	c.1996G>C	c.(1996-1998)Ggg>Cgg	p.G666R	TTK_ENST00000230510.3_Missense_Mutation_p.G665R|TTK_ENST00000509894.1_Missense_Mutation_p.G665R	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATTGATTTTGGGATTGCAAA	0.323																																						uc003pjc.3																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1996-1998)Ggg>Cgg		Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.							146	140	142					6																	80746263		2202	4298	6500	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80746263G>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1996G>C	6.37:g.80746263G>C	ENSP00000358813:p.Gly666Arg					TTK_uc003pjb.4_Missense_Mutation_p.G665R	p.G666R	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	16	2107	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	666			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1996G>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482675	0.84747	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.89415	-2.51;-2.51;-2.51	6.08	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97641	1.0148	10	0.87932	D	0	-16.2953	15.9875	0.80174	0.0:0.0:0.8645:0.1355	.	666;665	P33981;A8K8U5	TTK_HUMAN;.	R	665;665;666	ENSP00000422936:G665R;ENSP00000230510:G665R;ENSP00000358813:G666R	ENSP00000230510:G665R	G	+	1	0	TTK	80802982	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.476000	0.97823	1.569000	0.49696	0.591000	0.81541	GGG		0.323	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			C	80746263	G	C	80746263	3	2	62	1	0	0	0	0	1	0	0	0	16717	1348	47	5	2058	5	TTK	6	80746263	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	4777725	80746263	90368804	37	4087											
MYB	4602	broad.mit.edu	37	chr6	135514998	135514998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtcatgttccataccCtgtagcgttacatgtaaata	11	13	6	11	1	1	0	1	0	0	0	3	0	3	0	3	0	3	4	3	0	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:135514998C>T	ENST00000367814.4	+	7	971	c.785C>T	c.(784-786)cCt>cTt	p.P262L	MYB_ENST00000527615.1_Missense_Mutation_p.P262L|MYB_ENST00000442647.2_Missense_Mutation_p.P262L|MYB_ENST00000534044.1_Missense_Mutation_p.P262L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Missense_Mutation_p.P262L|MYB_ENST00000534121.1_Missense_Mutation_p.P262L|MYB_ENST00000528774.1_Missense_Mutation_p.P262L|MYB_ENST00000533624.1_Missense_Mutation_p.P262L|MYB_ENST00000341911.5_Missense_Mutation_p.P262L|MYB_ENST00000420123.2_Missense_Mutation_p.P238L|MYB_ENST00000316528.8_Missense_Mutation_p.P262L|MYB-AS1_ENST00000455534.1_RNA	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	262					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTTCCATACCCTGTAGCGTTA	0.453			T	NFIB	adenoid cystic carcinoma																																	uc003qfh.3				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(784-786)cCt>cTt		Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.							246	216	226					6																	135514998		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135514998C>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.785C>T	6.37:g.135514998C>T	ENSP00000356788:p.Pro262Leu					MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P262L|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.P74L|MYB_uc010kgi.3_Missense_Mutation_p.P262L|MYB_uc003qfq.3_Missense_Mutation_p.P262L|MYB_uc010kgj.3_Missense_Mutation_p.P262L|MYB_uc003qfo.3_Missense_Mutation_p.P262L|MYB_uc003qfu.3_Missense_Mutation_p.P262L|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P262L|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank	p.P262L	NM_001130173	NP_001123645	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	6	984	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	262					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.785C>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903080	0.92035	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.32515	2.7;2.21;2.2;2.22;1.45;1.92;2.69;2.69;1.88;2.22	5.23	5.23	0.72850	.	0.049512	0.85682	D	0.000000	T	0.49287	0.1548	M	0.67953	2.075	0.80722	D	1	D;D;P;D;D;P;D;D;D;D	0.89917	0.999;1.0;0.917;1.0;0.998;0.76;0.996;1.0;0.984;1.0	D;D;B;D;D;B;P;D;P;D	0.91635	0.994;0.998;0.367;0.999;0.959;0.343;0.893;0.999;0.632;0.999	T	0.53287	-0.8460	10	0.87932	D	0	-8.1358	18.8089	0.92050	0.0:1.0:0.0:0.0	.	262;262;238;262;262;262;262;262;262;262	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	L	262;262;262;262;262;262;238;262;262;262;262;262;216	ENSP00000339992:P262L;ENSP00000410825:P262L;ENSP00000326328:P262L;ENSP00000356788:P262L;ENSP00000433227:P262L;ENSP00000435938:P262L;ENSP00000434723:P262L;ENSP00000432851:P262L;ENSP00000435055:P262L;ENSP00000436605:P262L	ENSP00000237302:P262L	P	+	2	0	MYB	135556691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.204000	0.72143	2.437000	0.82529	0.650000	0.86243	CCT		0.453	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			T	135514998	C	T	135514998	3	4	62	1	0	0	0	0	1	0	0	0	10007	681	24	3	811	3	MYB	6	135514998	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	54768735	135514998	35600069	38	4088											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221823	+	Missense_Mutation	DNP	CC	CC	TT																															gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc																								rs149840192		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:55221822_55221823CC>TT	ENST00000275493.2	+	7	1043_1044	c.866_867CC>TT	c.(865-867)gCC>gTT	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTGA	0.594		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gcc>gTT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822_55221823CC>TT		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	Exception_encountered	7.37:g.55221822_55221823delinsTT	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112_1113	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	DNP	ENST00000275493.2	37	c.866_867CC>TT	CCDS5514.1																																																																																				0.594	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		TT	55221823	CC	TT	55221822	3	4	62	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	DNP	CC	TCGA-06-0747-01A-01W-0348-08		55221822	103916841	39	4089											
GPR85	54329	broad.mit.edu	37	chr7	112724771	112724771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagctgcatggctatagttCgccatagatggatggaggat	10	11	13	7	1	1	1	1	0	0	1	2	4	1	4	1	4	2	4	1	4	3	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:112724771C>T	ENST00000297146.3	-	3	609	c.6G>A	c.(4-6)gcG>gcA	p.A2A	GPR85_ENST00000501255.2_Silent_p.A2A|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Silent_p.A2A|GPR85_ENST00000424100.1_Silent_p.A2A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	2					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTATAGTTCGCCATAGATG	0.403																																						uc010ljv.2																			0		p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(4-6)gcG>gcA		Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.							28	28	28					7																	112724771		2203	4300	6503	SO:0001819	synonymous_variant	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724771C>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.6G>A	7.37:g.112724771C>T						GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A|GPR85_uc022akd.1_Silent_p.A2A	p.A2A	NM_001146266	NP_061843	P60893	GPR85_HUMAN			1	523	-			2					Q9JHI6|Q9NPD1	Silent	SNP	ENST00000297146.3	37	c.6G>A	CCDS5758.1																																																																																				0.403	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			T	112724771	C	T	112724771	2	4	62	1	0	0	0	0	0	0	0	1	6715	871	31	2		2	GPR85	7	112724771	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	57502949	112724771	46413892	40	4090											
DENND2A	27147	broad.mit.edu	37	chr7	140267052	140267052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcagccgggacttcacgTtgaccaggcgctggctgtga	6	9	14	12	3	2	2	2	2	0	0	2	3	2	3	2	3	1	4	2	3	0	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:140267052T>C	ENST00000275884.6	-	8	2030	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S	DENND2A_ENST00000492720.1_Missense_Mutation_p.N538S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N538S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N538S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	538					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGACTTCACGTTGACCAGGCG	0.567																																						uc010lnk.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1612-1614)aAc>aGc		Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.							28	30	29					7																	140267052		1917	4152	6069	SO:0001583	missense	27147							g.chr7:140267052T>C	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1613A>G	7.37:g.140267052T>C	ENSP00000275884:p.Asn538Ser					DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.N538S|DENND2A_uc003vvw.3_Missense_Mutation_p.N538S|DENND2A_uc003vvx.3_Missense_Mutation_p.N538S	p.N538S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			8	2133	-	Melanoma(164;0.00956)		538					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1613A>G	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993880	0.35131	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.09073	3.72;3.72;3.72;3.02	5.86	4.7	0.59300	.	0.475787	0.22572	N	0.058332	T	0.03827	0.0108	N	0.02539	-0.55	0.21802	N	0.99954	B;B	0.22003	0.063;0.003	B;B	0.20384	0.029;0.007	T	0.42464	-0.9450	10	0.19590	T	0.45	-11.2939	13.4022	0.60889	0.0:0.0:0.1313:0.8687	.	538;538	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	538	ENSP00000275884:N538S;ENSP00000442245:N538S;ENSP00000419654:N538S;ENSP00000419464:N538S	ENSP00000275884:N538S	N	-	2	0	DENND2A	139913521	1.000000	0.71417	0.876000	0.34364	0.954000	0.61252	3.341000	0.52151	1.048000	0.40298	-0.258000	0.10820	AAC		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		C	140267052	T	C	140267052	3	2	62	1	0	0	0	0	1	0	0	0	4429	1725	60	4	1464	4	DENND2A	7	140267052	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	27542281	140267052	18871611	41	4091											
GBX1	2636	broad.mit.edu	37	chr7	150845924	150845924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcaggtatttcttgcAatgaaattccttctccaatt	11	15	5	10	0	3	1	1	1	2	0	5	1	4	1	2	1	2	3	2	1	5	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:150845924A>T	ENST00000297537.4	-	2	843	c.844T>A	c.(844-846)Tgc>Agc	p.C282S	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	282					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTTCTTGCAATGAAATTCC	0.557																																						uc011kvg.2																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(844-846)Tgc>Agc		Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.							64	71	68					7																	150845924		2119	4243	6362	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845924A>T	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.844T>A	7.37:g.150845924A>T	ENSP00000297537:p.Cys282Ser						p.C282S	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1076	-			282						Missense_Mutation	SNP	ENST00000297537.4	37	c.844T>A	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300076	0.60195	.	.	ENSG00000164900	ENST00000297537	D	0.95724	-3.79	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	N	0.01505	-0.83	0.80722	D	1	B	0.20988	0.05	B	0.31290	0.127	D	0.83740	0.0203	10	0.32370	T	0.25	-34.0229	13.2065	0.59800	1.0:0.0:0.0:0.0	.	282	Q14549	GBX1_HUMAN	S	282	ENSP00000297537:C282S	ENSP00000297537:C282S	C	-	1	0	GBX1	150476857	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.067000	0.76741	2.012000	0.59069	0.482000	0.46254	TGC		0.557	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			T	150845924	A	T	150845924	3	4	62	1	0	0	0	0	1	0	0	0	6280	130	5	5	250	5	GBX1	7	150845924	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	10578872	150845924	8292739	42	4092											
RPS20	6224	broad.mit.edu	37	chr8	56985787	56985787	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaacgatcccacgtcttAgaaccttcaccacaaggagt	13	8	8	12	2	2	1	1	0	1	1	3	4	3	3	3	2	2	0	3	2	4	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:56985787A>T	ENST00000521262.1	-	4	475	c.222T>A	c.(220-222)tcT>tcA	p.S74S	RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000009589.3_Silent_p.S74S|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000519606.1_3'UTR|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519807.1_Silent_p.S74S|RPS20_ENST00000520627.1_Silent_p.S19S|RPS20_ENST00000524349.1_Silent_p.S19S			P60866	RS20_HUMAN	ribosomal protein S20	74					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CCCACGTCTTAGAACCTTCAC	0.388																																						uc003xsm.2																			0											c.(220-222)tcT>tcA		Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.							103	107	106					8																	56985787		2059	3953	6012	SO:0001819	synonymous_variant	6224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr8:56985787A>T	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"S ribosomal proteins"	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.222T>A	8.37:g.56985787A>T						RPS20_uc003xsn.2_Silent_p.S74S	p.S74S	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		3	420	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	74					B2R4F4|B4DW28|P17075|Q5M8S9	Silent	SNP	ENST00000521262.1	37	c.222T>A																																																																																					0.388	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		T	56985787	A	T	56985787	2	4	62	1	0	0	0	0	0	0	0	1	13632	407	15	5		5	RPS20	8	56985787	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08		56985787	89378235	43	4093											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140324	68140327	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															cttgggtgtgtcgtggaaagTaattcatccatagacacagc																								rs369152833		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:68140324_68140327delTAAT	ENST00000262215.3	-	25	3851_3854	c.3462_3465delATTA	c.(3460-3465)gaattafs	p.EL1154fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Del_p.EL608fs|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1154					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCGTGGAAAGTAATTCATCCATAG	0.343																																						uc003xxo.2																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3460-3465)gaattafs		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68140324_68140327delTAAT	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3462_3465delATTA	8.37:g.68140324_68140327delTAAT	ENSP00000262215:p.Glu1154fs					ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.2_Frame_Shift_Del_p.E137fs	p.E1154fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		24	3852_3855	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1154					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Del	DEL	ENST00000262215.3	37	c.3462_3465delATTA	CCDS6199.1																																																																																				0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		-	68140327	TAAT	-	68140324	7	5	62	1	0	1	0	1	0	0	0	0	852	1635	57	0	2144	0	ARFGEF1	8	68140324	Frame_Shift_Del	DEL	TAAT	TCGA-06-0747-01A-01W-0348-08	11154537	68140324	78223698	44	4094											
EIF2C2	27161	broad.mit.edu	37	chr8	141570507	141570507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcattttccagagagaaggCcggacggactgatggaagcc	12	7	13	9	2	1	3	1	1	0	2	2	7	2	6	3	4	1	0	3	4	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:141570507C>T	ENST00000220592.5	-	5	733	c.621G>A	c.(619-621)cgG>cgA	p.R207R	AGO2_ENST00000519980.1_Silent_p.R207R	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	207					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AGAGAGAAGGCCGGACGGACT	0.622																																						uc003yvn.3																			0				NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(619-621)cgG>cgA		Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.							91	88	89					8																	141570507		2203	4300	6503	SO:0001819	synonymous_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141570507C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.621G>A	8.37:g.141570507C>T						EIF2C2_uc010meo.3_Silent_p.R207R|EIF2C2_uc010men.3_Silent_p.R130R	p.R207R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		4	662	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	207					Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.621G>A	CCDS6380.1																																																																																				0.622	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			T	141570507	C	T	141570507	2	4	62	1	0	0	0	0	0	0	0	1	5006	726	26	3		3	EIF2C2	8	141570507	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	73430183	141570507	4793515	45	4095											
IFNA10	3446	broad.mit.edu	37	chr9	21206995	21206995	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagtatcaaggccctcctAttacccaggctgtgggtctg	8	10	12	11	0	2	0	1	0	1	0	3	1	3	1	3	4	1	2	3	4	4	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:21206995A>G	ENST00000357374.2	-	1	147	c.102T>C	c.(100-102)aaT>aaC	p.N34N		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	34					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AGGCCCTCCTATTACCCAGGC	0.512																																						uc003zoq.1																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(100-102)aaT>aaC		Homo sapiens interferon, alpha 10 (IFNA10), mRNA.							64	73	70					9																	21206995		2202	4297	6499	SO:0001819	synonymous_variant	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206995A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.102T>C	9.37:g.21206995A>G						IFNA14_uc003zoo.1_Intron	p.N34N	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	0	148	-			34					Q5VV13	Silent	SNP	ENST00000357374.2	37	c.102T>C	CCDS6499.1																																																																																				0.512	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		G	21206995	A	G	21206995	2	3	62	1	0	0	0	0	0	0	0	1	7532	446	16	4		4	IFNA10	9	21206995	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08		21206995	120006436	46	4096											
KIAA0368	23392	broad.mit.edu	37	chr9	114188086	114188086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actttgaatttgtatttgtaCcaaaaagtccatcatacacc	14	14	4	9	0	1	1	1	1	0	0	2	1	2	1	3	0	2	2	3	0	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:114188086C>T	ENST00000338205.5	-	10	1292	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	KIAA0368_ENST00000259335.4_Missense_Mutation_p.G536D			Q5VYK3	ECM29_HUMAN	KIAA0368	364					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTATTTGTACCAAAAAGTCC	0.254																																						uc004bfe.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1606-1608)gGt>gAt		Homo sapiens KIAA0368 (KIAA0368), mRNA.							86	88	87					9																	114188086		1810	4063	5873	SO:0001583	missense	23392							g.chr9:114188086C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1073G>A	9.37:g.114188086C>T	ENSP00000339889:p.Gly358Asp					KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	p.G536D	NM_001080398	NP_001073867					11	1607	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.1607G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672238	0.88348	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.51071	0.72	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67321	-0.5700	10	0.54805	T	0.06	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	364	Q5VYK3	ECM29_HUMAN	D	358;536	ENSP00000259335:G536D	ENSP00000259335:G536D	G	-	2	0	KIAA0368	113227907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.279000	0.78599	2.802000	0.96397	0.655000	0.94253	GGT		0.254	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114188086	C	T	114188086	3	4	62	1	0	0	0	0	1	0	0	0	8171	507	18	3	4606	3	KIAA0368	9	114188086	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	92981091	114188086	27025345	47	4097											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123156840	123156840	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagctgcaaaagcttcAtggtgttttgcaacttcttt	8	16	8	9	0	3	0	2	0	1	0	3	0	3	0	0	1	6	6	0	1	3	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:123156840A>C	ENST00000349780.4	-	36	5707	c.5528T>G	c.(5527-5529)aTg>aGg	p.M1843R	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.M1764R|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.M1802R|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.M1811R|CDK5RAP2_ENST00000480467.1_5'UTR	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1843	Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAAAAGCTTCATGGTGTTTTG	0.428																																						uc004bkf.3																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(5527-5529)aTg>aGg		Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.							179	160	167					9																	123156840		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123156840A>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5528T>G	9.37:g.123156840A>C	ENSP00000343818:p.Met1843Arg					CDK5RAP2_uc010mvi.3_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.3_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R	p.M1843R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			35	5709	-			1843			Interaction with PCNT and AKAP9.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.5528T>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	A	9.767	1.171560	0.21704	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647	T;T;T;T;T;T	0.23348	3.9;3.8;3.9;3.81;2.23;1.91	5.39	2.73	0.32206	.	0.999424	0.08094	N	0.998897	T	0.20251	0.0487	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.32203	0.037;0.168;0.36;0.105;0.037	B;B;B;B;B	0.33750	0.043;0.039;0.169;0.04;0.058	T	0.27123	-1.0083	10	0.42905	T	0.14	.	7.8449	0.29421	0.7962:0.0:0.2038:0.0	.	853;1811;1764;1843;1237	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	R	1811;1802;1843;1764;1237;853	ENSP00000354065:M1811R;ENSP00000352258:M1802R;ENSP00000343818:M1843R;ENSP00000353317:M1764R;ENSP00000400395:M1237R;ENSP00000409941:M853R	ENSP00000343818:M1843R	M	-	2	0	CDK5RAP2	122196661	0.098000	0.21812	0.178000	0.23040	0.862000	0.49288	1.603000	0.36794	0.910000	0.36722	0.533000	0.62120	ATG		0.428	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		C	123156840	A	C	123156840	3	2	62	1	0	0	0	0	1	0	0	0	3146	217	8	5	165	5	CDK5RAP2	9	123156840	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	8968754	123156840	18056591	48	4098											
OR1J1	347168	broad.mit.edu	37	chr9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtatgcaaaagagcacacGcacaagcgatgacccaggac	15	3	12	11	2	0	2	0	1	0	1	0	4	0	3	1	2	3	4	1	2	4	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:125239745G>A	ENST00000259357.2	-	1	490	c.461C>T	c.(460-462)gCg>gTg	p.A154V	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542																																						uc011lyu.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(460-462)gCg>gTg		Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.							90	78	82					9																	125239745		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239745G>A	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.461C>T	9.37:g.125239745G>A	ENSP00000259357:p.Ala154Val					OR1J2_uc004bmj.2_Intron	p.A154V	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN			0	461	-			154					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.461C>T	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	g	0.058	-1.231824	0.01505	.	.	ENSG00000136834	ENST00000259357	T	0.35605	1.3	4.57	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.344126	0.25178	N	0.032547	T	0.17534	0.0421	N	0.16307	0.4	0.22127	N	0.999346	P	0.35959	0.53	B	0.31245	0.126	T	0.10776	-1.0615	10	0.52906	T	0.07	.	5.3894	0.16236	0.2498:0.146:0.6042:0.0	.	154	Q8NGS3	OR1J1_HUMAN	V	154	ENSP00000259357:A154V	ENSP00000259357:A154V	A	-	2	0	OR1J1	124279566	0.000000	0.05858	0.422000	0.26621	0.005000	0.04900	0.782000	0.26788	0.294000	0.22547	-0.267000	0.10333	GCG		0.542	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			A	125239745	G	A	125239745	3	1	62	1	0	0	0	0	1	0	0	0	10959	1087	38	1	510	1	OR1J1	9	125239745	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	2082905	125239745	15973686	49	4099											
MBL2	4153	broad.mit.edu	37	chr10	54531391	54531391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggagtgatggaaacaggGacatggtcctcaccttggtg	10	8	16	7	0	1	1	1	1	0	0	2	5	2	4	2	5	1	0	2	5	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:54531391G>T	ENST00000373968.3	-	1	69	c.5C>A	c.(4-6)tCc>tAc	p.S2Y		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	2					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAACAGGGACATGGTCCT	0.502																																						uc001jjt.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(4-6)tCc>tAc		Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.							61	54	56					10																	54531391		2203	4300	6503	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531391G>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.5C>A	10.37:g.54531391G>T	ENSP00000363079:p.Ser2Tyr						p.S2Y	NM_000242	NP_000233	P11226	MBL2_HUMAN			0	70	-			2					Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.5C>A	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.120104	0.00346	.	.	ENSG00000165471	ENST00000373968	T	0.71103	-0.54	4.24	-2.93	0.05598	.	1.551240	0.03799	N	0.264087	T	0.43122	0.1233	N	0.14661	0.345	0.09310	N	1	P	0.36616	0.561	B	0.31191	0.125	T	0.38478	-0.9659	10	0.02654	T	1	-0.4353	5.7981	0.18397	0.6066:0.1611:0.2323:0.0	.	2	P11226	MBL2_HUMAN	Y	2	ENSP00000363079:S2Y	ENSP00000363079:S2Y	S	-	2	0	MBL2	54201397	0.001000	0.12720	0.002000	0.10522	0.137000	0.21094	-0.385000	0.07379	-0.588000	0.05882	0.655000	0.94253	TCC		0.502	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		T	54531391	G	T	54531391	3	4	62	1	0	0	0	0	1	0	0	0	9350	1174	41	5	757	5	MBL2	10	54531391	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		54531391	81003356	50	4100											
PCDH15	65217	broad.mit.edu	37	chr10	55839114	55839114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggcctgccatctgaagCtgtgatgatcagaatgtagc	10	11	11	9	0	3	4	1	3	2	1	3	4	3	4	2	1	3	2	2	1	3	1	rs368449190		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:55839114C>G	ENST00000320301.6	-	17	2462	c.2068G>C	c.(2068-2070)Gct>Cct	p.A690P	PCDH15_ENST00000409834.1_Missense_Mutation_p.A301P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A697P|PCDH15_ENST00000395430.1_Missense_Mutation_p.A690P|PCDH15_ENST00000414778.1_Missense_Mutation_p.A695P|PCDH15_ENST00000395446.1_Missense_Mutation_p.A690P|PCDH15_ENST00000395438.1_Missense_Mutation_p.A690P|PCDH15_ENST00000373957.3_Missense_Mutation_p.A668P|PCDH15_ENST00000361849.3_Missense_Mutation_p.A690P|PCDH15_ENST00000395432.2_Missense_Mutation_p.A653P|PCDH15_ENST00000395445.1_Missense_Mutation_p.A697P|PCDH15_ENST00000395433.1_Missense_Mutation_p.A668P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A690P|PCDH15_ENST00000437009.1_Missense_Mutation_p.A619P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	690	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCATCTGAAGCTGTGATGATC	0.433										HNSCC(58;0.16)																												uc010qhy.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2083-2085)Gct>Cct		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							247	218	228					10																	55839114		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55839114C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2068G>C	10.37:g.55839114C>G	ENSP00000322604:p.Ala690Pro	HNSCC(58;0.16)				PCDH15_uc010qhq.2_Missense_Mutation_p.A695P|PCDH15_uc010qhr.2_Missense_Mutation_p.A690P|PCDH15_uc021pqv.1_Missense_Mutation_p.A690P|PCDH15_uc021pqw.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.2_Missense_Mutation_p.A697P|PCDH15_uc021pqx.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc021pqy.1_Missense_Mutation_p.A690P|PCDH15_uc021pqz.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc001jju.1_Missense_Mutation_p.A690P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.3_Missense_Mutation_p.A690P	p.A695P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN			17	2478	-		Melanoma(3;0.117)|Lung SC(717;0.238)	690			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2083G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813703	0.90790	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;0.31;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.5;-0.6	5.9	5.9	0.94986	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91486	0.7312	H	0.98980	4.39	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0	D	0.94273	0.7512	9	0.87932	D	0	.	19.8634	0.96793	0.0:1.0:0.0:0.0	.	668;690;690;695;619;653;690;690;697;697;690;695;690;668;690	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	P	697;695;690;690;301;697;690;653;690;668;668;690;690;695;619;690	ENSP00000363076:A697P;ENSP00000410304:A695P;ENSP00000378826:A690P;ENSP00000386693:A301P;ENSP00000378832:A697P;ENSP00000378833:A690P;ENSP00000378820:A653P;ENSP00000354950:A690P;ENSP00000378821:A668P;ENSP00000363068:A668P;ENSP00000322604:A690P;ENSP00000378818:A690P;ENSP00000412628:A619P;ENSP00000363066:A690P	ENSP00000322604:A690P	A	-	1	0	PCDH15	55509120	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.408000	0.66368	2.800000	0.96347	0.591000	0.81541	GCT		0.433	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55839114	C	G	55839114	3	3	62	1	0	0	0	0	1	0	0	0	11511	797	28	5	5486	5	PCDH15	10	55839114	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	1307723	55839114	79695633	51	4101											
MGMT	4255	broad.mit.edu	37	chr10	131506185	131506185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtcccagcccccgctgCggttctcggaggtccggagc	4	6	16	15	4	1	0	0	0	1	0	4	3	3	3	4	6	3	2	4	6	0	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:131506185C>T	ENST00000306010.7	+	3	277	c.245C>T	c.(244-246)gCg>gTg	p.A82V	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	51					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GCCCCCGCTGCGGTTCTCGGA	0.602								Direct reversal of damage																														uc001lkh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(244-246)gCg>gTg	Direct reversal of damage	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.							63	68	66					10																	131506185		2203	4300	6503	SO:0001583	missense	4255							g.chr10:131506185C>T	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.245C>T	10.37:g.131506185C>T	ENSP00000302111:p.Ala82Val						p.A82V	NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	2	271	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	82					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.245C>T	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.754112	0.31046	.	.	ENSG00000170430	ENST00000306010	T	0.14766	2.48	4.79	3.66	0.41972	.	0.332375	0.28510	N	0.015084	T	0.06096	0.0158	N	0.03608	-0.345	0.21290	N	0.99973	B	0.19200	0.034	B	0.08055	0.003	T	0.33675	-0.9859	10	0.31617	T	0.26	.	11.1375	0.48383	0.8431:0.1569:0.0:0.0	.	82	B4DEE8	.	V	82	ENSP00000302111:A82V	ENSP00000302111:A82V	A	+	2	0	MGMT	131396175	1.000000	0.71417	0.043000	0.18650	0.002000	0.02628	1.651000	0.37302	0.976000	0.38417	-0.256000	0.11100	GCG		0.602	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		T	131506185	C	T	131506185	3	4	62	1	0	0	0	0	1	0	0	0	9557	768	27	1	255	1	MGMT	10	131506185	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	75667071	131506185	4028562	52	4102											
PDE3B	5140	broad.mit.edu	37	chr11	14853295	14853295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaacttgtagaaaagatggGagagaaatcaggaaggattc	17	8	13	3	0	1	4	1	1	0	3	2	8	1	7	0	3	1	1	0	3	6	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:14853295G>A	ENST00000282096.4	+	9	2419	c.2066G>A	c.(2065-2067)gGa>gAa	p.G689E	PDE3B_ENST00000455098.2_Missense_Mutation_p.G638E	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GAAAAGATGGGAGAGAAATCA	0.294																																						uc001mln.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2065-2067)gGa>gAa		Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.							61	67	65					11																	14853295		2199	4292	6491	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14853295G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2066G>A	11.37:g.14853295G>A	ENSP00000282096:p.Gly689Glu					PDE3B_uc010rcr.2_Missense_Mutation_p.G638E	p.G689E	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			8	2419	+			689					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2066G>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703738	0.88924	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.76316	-1.01;-1.01	5.82	5.82	0.92795	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87880	0.2677	10	0.59425	D	0.04	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	638;689	B7ZM37;Q13370	.;PDE3B_HUMAN	E	689;638	ENSP00000282096:G689E;ENSP00000388644:G638E	ENSP00000282096:G689E	G	+	2	0	PDE3B	14809871	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.913000	0.92730	2.753000	0.94483	0.467000	0.42956	GGA		0.294	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		A	14853295	G	A	14853295	3	1	62	1	0	0	0	0	1	0	0	0	11638	1174	41	3	2100	3	PDE3B	11	14853295	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		14853295	120153221	53	4103											
HIPK3	10114	broad.mit.edu	37	chr11	33375092	33375092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgagtccaacaaaacTcagccagtatccatatatgt	14	10	5	12	0	1	1	1	1	0	0	4	1	4	1	4	0	3	1	4	0	6	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:33375092T>C	ENST00000303296.4	+	17	3931	c.3626T>C	c.(3625-3627)cTc>cCc	p.L1209P	HIPK3_ENST00000525975.1_Missense_Mutation_p.L1188P|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.L1188P|HIPK3_ENST00000456517.1_Missense_Mutation_p.L1188P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1209					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAACAAAACTCAGCCAGTAT	0.363																																						uc001mul.1																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3625-3627)cTc>cCc		Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.							66	59	62					11																	33375092		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33375092T>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3626T>C	11.37:g.33375092T>C	ENSP00000304226:p.Leu1209Pro					HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P	p.L1209P	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			16	3896	+			1209					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3626T>C	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798609	0.31777	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.03	4.92	0.64577	.	0.000000	0.52532	D	0.000074	T	0.65144	0.2663	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70227	0.968;0.929	T	0.67133	-0.5747	10	0.87932	D	0	.	11.9761	0.53091	0.0:0.0671:0.0:0.9329	.	1188;1209	Q9H422-2;Q9H422	.;HIPK3_HUMAN	P	1188;1209;1188;1188	ENSP00000431710:L1188P;ENSP00000304226:L1209P;ENSP00000368301:L1188P;ENSP00000398241:L1188P	ENSP00000304226:L1209P	L	+	2	0	HIPK3	33331668	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.793000	0.69060	1.118000	0.41863	0.455000	0.32223	CTC		0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		C	33375092	T	C	33375092	3	2	62	1	0	0	0	0	1	0	0	0	7118	1551	54	4	3688	4	HIPK3	11	33375092	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	18521797	33375092	101631424	54	4104											
OR5AS1	219447	broad.mit.edu	37	chr11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtattattttcttagcaacTtatctttcttagacatcagc	10	19	4	8	0	4	1	1	0	3	1	4	1	4	1	0	0	3	2	0	0	6	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:55798090T>G	ENST00000313555.1	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348																																						uc010riw.2																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(196-198)Tta>Gta		Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.							57	58	57					11																	55798090		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798090T>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.196T>G	11.37:g.55798090T>G	ENSP00000324111:p.Leu66Val						p.L66V	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			0	196	+	Esophageal squamous(21;0.00693)		66					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.196T>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.564005	0.45694	.	.	ENSG00000181785	ENST00000313555	T	0.00587	6.38	5.65	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.000000	0.25106	U	0.033095	T	0.03564	0.0102	H	0.95260	3.645	0.26582	N	0.973356	D	0.76494	0.999	D	0.78314	0.991	T	0.09378	-1.0677	10	0.87932	D	0	.	7.5607	0.27849	0.0:0.4291:0.0:0.5709	.	66	Q8N127	O5AS1_HUMAN	V	66	ENSP00000324111:L66V	ENSP00000324111:L66V	L	+	1	2	OR5AS1	55554666	0.000000	0.05858	0.997000	0.53966	0.512000	0.34134	-0.557000	0.05985	0.434000	0.26340	-0.269000	0.10298	TTA		0.348	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		G	55798090	T	G	55798090	3	3	62	1	0	0	0	0	1	0	0	0	11146	1606	56	5	198	5	OR5AS1	11	55798090	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	22422998	55798090	79208426	55	4105											
OR5M9	390162	broad.mit.edu	37	chr11	56229973	56229973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatatgtcttggtgattGctttgttgactgcttctttt	5	21	8	7	0	3	2	1	2	2	0	3	2	3	2	0	1	2	3	0	1	1	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:56229973G>C	ENST00000279791.1	-	1	904	c.905C>G	c.(904-906)gCa>gGa	p.A302G		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTTGGTGATTGCTTTGTTGAC	0.378																																						uc010rjj.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(904-906)gCa>gGa		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.							129	117	121					11																	56229973		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56229973G>C	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.905C>G	11.37:g.56229973G>C	ENSP00000279791:p.Ala302Gly					OR8U8_uc001nit.2_Intron	p.A302G	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	905	-	Esophageal squamous(21;0.00448)		302					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.905C>G	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291465	0.05568	.	.	ENSG00000150269	ENST00000279791	T	0.38077	1.16	3.89	0.254	0.15557	.	0.333939	0.21557	N	0.072633	T	0.20981	0.0505	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16335	-1.0406	10	0.72032	D	0.01	1.4509	6.7833	0.23659	0.5512:0.0:0.4488:0.0	.	302	Q8NGP3	OR5M9_HUMAN	G	302	ENSP00000279791:A302G	ENSP00000279791:A302G	A	-	2	0	OR5M9	55986549	0.007000	0.16637	0.050000	0.19076	0.135000	0.20990	-0.620000	0.05565	-0.039000	0.13602	0.478000	0.44815	GCA		0.378	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		C	56229973	G	C	56229973	3	2	62	1	0	0	0	0	1	0	0	0	11177	1319	46	5	29	5	OR5M9	11	56229973	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	431883	56229973	78776543	56	4106											
DTX4	23220	broad.mit.edu	37	chr11	58949878	58949878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggccctggccaccttgaAtcgtaccaacctgcagcgac	8	7	11	15	2	0	1	0	1	0	0	1	2	0	1	5	3	4	2	5	3	3	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:58949878A>G	ENST00000227451.3	+	2	982	c.878A>G	c.(877-879)aAt>aGt	p.N293S	DTX4_ENST00000532982.1_Missense_Mutation_p.N187S	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	293					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCACCTTGAATCGTACCAAC	0.612																																						uc001nns.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(877-879)aAt>aGt		Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.							30	38	35					11																	58949878		1995	4164	6159	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949878A>G	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.878A>G	11.37:g.58949878A>G	ENSP00000227451:p.Asn293Ser					DTX4_uc001nnr.2_Missense_Mutation_p.N187S	p.N293S	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			1	1135	+		all_epithelial(135;0.125)	293					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.878A>G	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	A	2.969	-0.212938	0.06140	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.11169	2.8;3.0	4.53	2.23	0.28157	.	0.766532	0.12326	N	0.478821	T	0.07593	0.0191	L	0.42581	1.335	0.29231	N	0.873283	B	0.02656	0.0	B	0.01281	0.0	T	0.44498	-0.9324	10	0.02654	T	1	.	6.6579	0.22998	0.8042:0.0:0.1958:0.0	.	293	Q9Y2E6	DTX4_HUMAN	S	187;293	ENSP00000434055:N187S;ENSP00000227451:N293S	ENSP00000227451:N293S	N	+	2	0	DTX4	58706454	1.000000	0.71417	0.980000	0.43619	0.782000	0.44232	2.401000	0.44513	0.293000	0.22520	0.533000	0.62120	AAT		0.612	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		G	58949878	A	G	58949878	3	3	62	1	0	0	0	0	1	0	0	0	4797	101	4	4	884	4	DTX4	11	58949878	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	2719905	58949878	76056638	57	4107											
PCNXL3	399909	broad.mit.edu	37	chr11	65402835	65402835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacgccctccctgctggcGctgcgccatgtcctggatga	6	8	11	16	3	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	1	0	rs375263170		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:65402835G>A	ENST00000355703.3	+	31	5639	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1700						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		17409	0		0	False		,,,				2504	0					uc001oey.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5098-5100)gcG>gcA		Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.		G		10,4146		0,10,2068	21	22	22		5100	-8.1	0.7	11		22	0,8386		0,0,4193	no	coding-synonymous	PCNXL3	NM_032223.2		0,10,6261	AA,AG,GG		0.0,0.2406,0.0797		1700/2035	65402835	10,12532	2078	4193	6271	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65402835G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5100G>A	11.37:g.65402835G>A						PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	p.A1700A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			30	5100	+			1700					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.5100G>A	CCDS44650.1																																																																																				0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		A	65402835	G	A	65402835	2	1	62	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCNXL3	11	65402835	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	6452957	65402835	69603681	58	4108											
CACNA1C	775	broad.mit.edu	37	chr12	2716205	2716205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccccatcatccaacccCgcagctgggagaacagcaag	13	3	8	17	1	1	1	1	0	0	1	2	2	2	1	6	1	4	3	6	1	3	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:2716205C>T	ENST00000347598.4	+	27	3325	c.3325C>T	c.(3325-3327)Cgc>Tgc	p.R1109C	CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1109C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1089C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1089C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1114C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1109	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCCAACCCCGCAGCTGGGA	0.542																																						uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3325-3327)Cgc>Tgc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						61	67	65					12																	2716205		2138	4271	6409	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2716205C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3325C>T	12.37:g.2716205C>T	ENSP00000266376:p.Arg1109Cys					CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C	p.R1109C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	26	3638	+			1109			Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3325C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382840	0.82792	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	4.87	4.87	0.63330	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.738;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.987;1.0	D;D;P;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;P;D	0.91635	0.997;0.999;0.908;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.997;0.476;0.999;0.998;0.999;0.995;0.997;0.999;0.999;0.995;0.999;0.999;0.998;0.555;0.996	D	0.98175	1.0454	10	0.87932	D	0	.	18.5538	0.91075	0.0:1.0:0.0:0.0	.	1089;1086;1109;1089;1089;1089;1089;1089;1089;1109;1089;1060;1109;1089;1089;1089;1089;1089;1089;1089;1089;1089;1089;1089;1089	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1114;1089;1089;1089;1089;1089;1089;1089;1089;1089;1109;1109;1089;1089;1089;1089;1089;1089;1089;1089;1089;1089;1089;930	ENSP00000336982:R1114C;ENSP00000382563:R1089C;ENSP00000437936:R1089C;ENSP00000382552:R1089C;ENSP00000382547:R1089C;ENSP00000382506:R1089C;ENSP00000382530:R1089C;ENSP00000382546:R1089C;ENSP00000382500:R1089C;ENSP00000382549:R1089C;ENSP00000266376:R1109C;ENSP00000382515:R1109C;ENSP00000382510:R1089C;ENSP00000341092:R1089C;ENSP00000382537:R1089C;ENSP00000329877:R1089C;ENSP00000382557:R1089C;ENSP00000385724:R1089C;ENSP00000382512:R1089C;ENSP00000382542:R1089C;ENSP00000382526:R1089C;ENSP00000385896:R1089C;ENSP00000382504:R1089C	ENSP00000323129:R930C	R	+	1	0	CACNA1C	2586466	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.452000	0.52971	2.691000	0.91804	0.655000	0.94253	CGC		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2716205	C	T	2716205	3	4	62	1	0	0	0	0	1	0	0	0	2540	652	23	2	3539	2	CACNA1C	12	2716205	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		2716205	131135690	59	4109											
TMTC1	83857	broad.mit.edu	37	chr12	29669420	29669420	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacggccaaaacctgagcCtacaaaaccacatggacctt	15	6	6	14	1	1	1	1	1	0	0	1	2	1	2	5	2	4	0	5	2	5	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:29669420C>A	ENST00000539277.1	-	15	2228		c.e15-1		TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000256062.5_Splice_Site	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAACCTGAGCCTACAAAACCA	0.453																																						uc021qwi.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.e15-1		Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.							109	101	104					12																	29669420		2203	4300	6503	SO:0001630	splice_region_variant	83857					integral to membrane	binding	g.chr12:29669420C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2170-1G>T	12.37:g.29669420C>A						TMTC1_uc001riz.3_Splice_Site_p.A373_splice|TMTC1_uc001rja.3_Splice_Site_p.A460_splice|TMTC1_uc001rjb.3_Splice_Site_p.A616_splice|TMTC1_uc001riy.3_Splice_Site_p.A69_splice	p.A724_splice	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN			15	2229	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		724					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Splice_Site	SNP	ENST00000539277.1	37	c.2170_splice	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184004	0.78677	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6163	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMTC1	29560687	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.914000	0.75764	2.733000	0.93635	0.655000	0.94253	.		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	Intron	A	29669420	C	A	29669420	5	1	62	1	0	0	0	0	0	0	1	0	16257	695	24	5	495	5	TMTC1	12	29669420	Splice_Site	SNP	C	TCGA-06-0747-01A-01W-0348-08	26953215	29669420	104182475	60	4110											
ABCD2	225	broad.mit.edu	37	chr12	40001468	40001468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtaaatttcgagcagtgGtaaaggcttctgtccgttca	10	12	10	9	2	2	0	1	0	1	0	4	1	3	0	2	2	1	5	2	2	4	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:40001468G>A	ENST00000308666.3	-	3	1304	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	390	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCGAGCAGTGGTAAAGGCTTC	0.323																																						uc001rmb.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1168-1170)aCc>aTc		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.							96	101	99					12																	40001468		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40001468G>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1169C>T	12.37:g.40001468G>A	ENSP00000310688:p.Thr390Ile						p.T390I	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			2	1595	-			390			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1169C>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406203	0.62288	.	.	ENSG00000173208	ENST00000308666	D	0.96365	-3.99	5.24	5.24	0.73138	.	0.054263	0.64402	D	0.000001	D	0.92156	0.7513	N	0.17312	0.475	0.58432	D	0.999999	P	0.39964	0.697	B	0.38500	0.275	D	0.91364	0.5114	9	.	.	.	-16.5524	18.8419	0.92188	0.0:0.0:1.0:0.0	.	390	Q9UBJ2	ABCD2_HUMAN	I	390	ENSP00000310688:T390I	.	T	-	2	0	ABCD2	38287735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.454000	0.82982	0.563000	0.77884	ACC		0.323	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		A	40001468	G	A	40001468	3	1	62	1	0	0	0	0	1	0	0	0	61	1261	44	3	1085	3	ABCD2	12	40001468	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	10332048	40001468	93850427	61	4111											
PCDH20	64881	broad.mit.edu	37	chr13	61985826	61985826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttccaaagtaatgttGccagttttagggtcaatcct	9	14	8	10	0	2	0	1	0	1	0	4	0	4	0	4	1	1	3	4	1	4	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:61985826G>A	ENST00000409186.1	-	5	4511	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_ENST00000409204.4_Silent_p.G802G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	802	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488																																						uc001vid.4																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2404-2406)ggC>ggT		Homo sapiens protocadherin 20 (PCDH20), mRNA.							98	93	95					13																	61985826		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985826G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2406C>T	13.37:g.61985826G>A						PCDH20_uc010thj.2_Silent_p.G802G	p.G802G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2770	-		Breast(118;0.195)|Prostate(109;0.229)	775			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2406C>T	CCDS9442.2																																																																																				0.488	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		A	61985826	G	A	61985826	2	1	62	1	0	0	0	0	0	0	0	1	11515	1306	46	3		3	PCDH20	13	61985826	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08		61985826	53184052	62	4112											
PCID2	55795	broad.mit.edu	37	chr13	113854813	113854813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgctccatctctgctGtcgatggcttcgtacacctg	7	12	9	13	2	1	1	0	0	1	1	5	2	2	1	2	1	3	4	2	1	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:113854813G>A	ENST00000337344.4	-	2	130	c.54C>T	c.(52-54)gaC>gaT	p.D18D	PCID2_ENST00000375477.1_Silent_p.D18D|PCID2_ENST00000375479.2_Silent_p.D18D|PCID2_ENST00000246505.5_Silent_p.D18D|PCID2_ENST00000375459.1_Silent_p.D16D|PCID2_ENST00000375457.2_Silent_p.D16D	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	18					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCTCTGCTGTCGATGGCTT	0.418																																						uc021rmt.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(52-54)gaC>gaT		Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.							117	117	117					13																	113854813		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854813G>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.54C>T	13.37:g.113854813G>A						PCID2_uc021rmq.1_Silent_p.D18D|PCID2_uc021rmr.1_Silent_p.D18D|PCID2_uc021rms.1_Silent_p.D18D|PCID2_uc001vtg.2_Non-coding_Transcript	p.D18D	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		1	135	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	18					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.54C>T	CCDS9532.2																																																																																				0.418	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		A	113854813	G	A	113854813	2	1	62	1	0	0	0	0	0	0	0	1	11579	1368	48	3		3	PCID2	13	113854813	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	51868987	113854813	1315065	63	4113											
AHNAK2	113146	broad.mit.edu	37	chr14	105404844	105404844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaacccaatgtttggaagCcaaaaccagagcagaccaga	18	4	9	10	0	0	3	0	0	0	3	0	5	0	4	4	1	4	2	4	1	6	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr14:105404844C>T	ENST00000333244.5	-	7	17063	c.16944G>A	c.(16942-16944)tgG>tgA	p.W5648*	AHNAK2_ENST00000557457.1_Nonsense_Mutation_p.W646*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5648						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTTTGGAAGCCAAAACCAGA	0.478																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(16942-16944)tgG>tgA		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							41	37	38					14																	105404844		1885	4123	6008	SO:0001587	stop_gained	113146					nucleus		g.chr14:105404844C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16944G>A	14.37:g.105404844C>T	ENSP00000353114:p.Trp5648*					AHNAK2_uc021sen.1_Nonsense_Mutation_p.W1045*|AHNAK2_uc021seo.1_Nonsense_Mutation_p.W646*|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	p.W5648*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	17064	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5648					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.16944G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	56	27.038432	0.99970	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	.	.	.	5.55	5.55	0.83447	.	0.000000	0.42821	U	0.000656	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.0366	0.71751	0.0:0.8583:0.1417:0.0	.	.	.	.	X	646;5648	.	ENSP00000353114:W5648X	W	-	3	0	AHNAK2	104475889	1.000000	0.71417	0.993000	0.49108	0.205000	0.24178	2.272000	0.43373	2.612000	0.88384	0.655000	0.94253	TGG		0.478	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105404844	C	T	105404844	4	4	62	1	0	0	0	0	0	1	0	0	415	740	26	3	447	3	AHNAK2	14	105404844	Nonsense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		105404844	1944696	64	4114											
EIF3J	8669	broad.mit.edu	37	chr15	44829531	44829532	+	Frame_Shift_Ins	INS	-	-	T																															tcttccgtagacgccgacgcINStttctccgtggaagacccag																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:44829531_44829532insT	ENST00000535391.1	+	2	65_66	c.53_54insT	c.(52-57)gctttcfs	p.AF18fs	EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_Frame_Shift_Ins_p.AF18fs|EIF3J_ENST00000424492.3_Frame_Shift_Ins_p.AF18fs					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GACGCCGACGCTTTCTCCGTGG	0.708																																						uc001ztv.3																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9						c.(52-54)gctfs		Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.																																				SO:0001589	frameshift_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829531_44829532insT	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.56dupT	15.37:g.44829534_44829534dupT	ENSP00000440221:p.Ala18fs					LOC645212_uc021skh.1_5'Flank|LOC645212_uc001ztu.3_5'Flank|EIF3J_uc010ueg.2_Frame_Shift_Ins_p.A18fs	p.A18fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	1	180_181	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	18			Sufficient for interaction with EIF3B.			Frame_Shift_Ins	INS	ENST00000535391.1	37	c.53_54insT																																																																																					0.708	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		T	44829532	-	T	44829531	7	5	62	1	0	1	1	0	0	0	0	0	5020	797	28	0	59	0	EIF3J	15	44829531	Frame_Shift_Ins	INS	-	TCGA-06-0747-01A-01W-0348-08		44829531	57701861	65	4115											
CEP152	22995	broad.mit.edu	37	chr15	49054660	49054660	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatagcccccttgatggcTatgtccttctcttgttctaa	6	17	6	12	0	3	1	1	1	2	0	5	1	4	1	3	1	1	2	3	1	3	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:49054660T>G	ENST00000380950.2	-	18	2677	c.2490A>C	c.(2488-2490)atA>atC	p.I830I	CEP152_ENST00000325747.5_Silent_p.I737I|CEP152_ENST00000399334.3_Silent_p.I830I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	830					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTGATGGCTATGTCCTTCT	0.358																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2488-2490)atA>atC		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							167	154	158					15																	49054660		1851	4087	5938	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054660T>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2490A>C	15.37:g.49054660T>G						CEP152_uc001zwy.3_Silent_p.I830I|CEP152_uc001zxa.2_Silent_p.I737I	p.I830I	NM_001194998	NP_001181927	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2683	-		all_lung(180;0.0428)	830					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.2490A>C	CCDS58361.1																																																																																				0.358	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		G	49054660	T	G	49054660	2	3	62	1	0	0	0	0	0	0	0	1	3248	1512	53	5		5	CEP152	15	49054660	Silent	SNP	T	TCGA-06-0747-01A-01W-0348-08	4225129	49054660	53476732	66	4116											
HYDIN	54768	broad.mit.edu	37	chr16	70913364	70913364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagcgatgtcaaacaCgaggcctcggctcttggcca	9	7	10	15	3	3	0	2	0	1	0	4	2	3	0	3	3	2	1	3	3	1	1	rs373714588		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr16:70913364C>T	ENST00000393567.2	-	62	10543	c.10393G>A	c.(10393-10395)Gtg>Atg	p.V3465M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3465					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTCAAACACGAGGCCTCGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		21396	0.001		0	False		,,,				2504	0					uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(10390-10392)Gtg>Atg		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.		C	MET/VAL	1,3819		0,1,1909	41	45	44		10390	-4.1	0.2	16		44	0,8274		0,0,4137	no	missense	HYDIN	NM_032821.2	21	0,1,6046	TT,TC,CC		0.0,0.0262,0.0083	benign	3464/5121	70913364	1,12093	1910	4137	6047	SO:0001583	missense	54768							g.chr16:70913364C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10393G>A	16.37:g.70913364C>T	ENSP00000377197:p.Val3465Met						p.V3464M	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			61	10541	-		Ovarian(137;0.0654)	3465					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10390G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437646	0.25900	2.62E-4	0.0	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00902	5.56	5.19	-4.1	0.03940	.	1.409600	0.05592	U	0.574901	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	1	B	0.27286	0.174	B	0.24269	0.052	T	0.46498	-0.9187	10	0.41790	T	0.15	.	2.4787	0.04582	0.2125:0.1648:0.1066:0.5162	.	3464	F8WD23	.	M	3465;3464	ENSP00000377197:V3465M	ENSP00000313052:V3464M	V	-	1	0	HYDIN	69470865	0.000000	0.05858	0.159000	0.22649	0.562000	0.35680	-1.512000	0.02258	-0.245000	0.09625	-0.409000	0.06214	GTG		0.567	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70913364	C	T	70913364	3	4	62	1	0	0	0	0	1	0	0	0	7467	536	19	1	5072	1	HYDIN	16	70913364	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		70913364	19441389	67	4117											
SLC4A1	6521	broad.mit.edu	37	chr17	42330498	42330498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcacccacaagcacagCgaccaggagtccactgatcc	12	5	7	17	1	2	1	2	1	0	0	4	3	4	2	4	1	2	1	4	1	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:42330498C>T	ENST00000262418.6	-	17	2454	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	767	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAAGCACAGCGACCAGGAGT	0.637																																						uc002igf.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(2299-2301)Gct>Act		Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.							73	67	69					17																	42330498		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42330498C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2299G>A	17.37:g.42330498C>T	ENSP00000262418:p.Ala767Thr					SLC4A1_uc021tyc.1_Missense_Mutation_p.A401T	p.A767T	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	16	2448	-		Breast(137;0.014)|Prostate(33;0.0181)	767			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2299G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538657	0.65085	.	.	ENSG00000004939	ENST00000262418	T	0.80033	-1.33	4.95	-1.75	0.08031	Bicarbonate transporter, C-terminal (1);	0.346172	0.30437	N	0.009624	D	0.84638	0.5516	M	0.89715	3.055	0.37514	D	0.91727	B	0.32382	0.368	B	0.38428	0.273	T	0.81280	-0.1004	10	0.33141	T	0.24	.	19.3172	0.94220	0.2369:0.7631:0.0:0.0	.	767	P02730	B3AT_HUMAN	T	767	ENSP00000262418:A767T	ENSP00000262418:A767T	A	-	1	0	SLC4A1	39686024	0.379000	0.25123	0.141000	0.22245	0.894000	0.52154	1.162000	0.31786	-0.731000	0.04862	-0.364000	0.07487	GCT		0.637	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		T	42330498	C	T	42330498	3	4	62	1	0	0	0	0	1	0	0	0	14650	768	27	1	452	1	SLC4A1	17	42330498	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		42330498	38864712	68	4118											
FBF1	85302	broad.mit.edu	37	chr17	73914257	73914257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataccgcgtgtgggaggtGgcactggtggccgcatcgac	7	7	16	11	4	0	0	0	0	0	0	1	2	0	1	2	5	1	2	2	5	1	1	rs375382563		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:73914257G>A	ENST00000586717.1	-	20	2463	c.2190C>T	c.(2188-2190)gcC>gcT	p.A730A	FBF1_ENST00000319129.5_Silent_p.A729A|FBF1_ENST00000389570.4_Silent_p.A730A			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	730					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGTGGGAGGTGGCACTGGTGG	0.662																																						uc002jqc.3																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2185-2187)gcC>gcT		Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.		G		1,4219		0,1,2109	33	42	39		2187	1.6	1	17		39	0,8452		0,0,4226	no	coding-synonymous	FBF1	NM_001080542.1		0,1,6335	AA,AG,GG		0.0,0.0237,0.0079		729/1134	73914257	1,12671	2110	4226	6336	SO:0001819	synonymous_variant	85302							g.chr17:73914257G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2190C>T	17.37:g.73914257G>A						FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.A40A	p.A729A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN			19	2461	-			729					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.2187C>T																																																																																					0.662	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		A	73914257	G	A	73914257	2	1	62	1	0	0	0	0	0	0	0	1	5695	1335	47	3		3	FBF1	17	73914257	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	31583759	73914257	7280953	69	4119											
AANAT	15	broad.mit.edu	37	chr17	74465812	74465812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctggccgtgcaccgCgccttccggcagcagggcag	5	6	15	15	4	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	0	1	rs200468284	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:74465812C>T	ENST00000392492.3	+	4	618	c.384C>T	c.(382-384)cgC>cgT	p.R128R	AANAT_ENST00000250615.3_Silent_p.R173R	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	128	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						CCGTGCACCGCGCCTTCCGGC	0.701													C|||	7	0.00139776	0	0.0029	5008	,	,		16240	0.001		0	False		,,,				2504	0.0041					uc021udg.1																			0				lung(1)	1						c.(517-519)cgC>cgT		Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.							8	8	8					17																	74465812		2176	4236	6412	SO:0001819	synonymous_variant	15				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	g.chr17:74465812C>T	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"serotonin N-acetyltransferase"	600950	"arylalkylamine N-acetyltransferase"			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.384C>T	17.37:g.74465812C>T						AANAT_uc002jro.3_Silent_p.R128R|AANAT_uc010wte.2_Non-coding_Transcript	p.R173R	NM_001166579	NP_001079	Q16613	SNAT_HUMAN			6	1526	+			128			N-acetyltransferase.		A0AVF2|J3KMZ5|Q562F4	Silent	SNP	ENST00000392492.3	37	c.519C>T	CCDS11745.1																																																																																				0.701	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088		T	74465812	C	T	74465812	2	4	62	1	0	0	0	0	0	0	0	1	18	755	27	1		1	AANAT	17	74465812	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	551555	74465812	6729398	70	4120											
EPB41L3	23136	broad.mit.edu	37	chr18	5489008	5489008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggctcacctccctccGcaccggggtgctgtgcgctg	2	8	14	17	3	1	0	1	0	0	0	3	0	3	0	5	3	2	4	5	3	0	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:5489008G>A	ENST00000341928.2	-	2	515	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R59W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R59W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R59W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R59W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	59					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACCTCCCTCCGCACCGGGGTG	0.672																																						uc002kmt.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(175-177)Cgg>Tgg		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							24	26	25					18																	5489008		2200	4295	6495	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489008G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.175C>T	18.37:g.5489008G>A	ENSP00000343158:p.Arg59Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	p.R59W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			1	261	-			59					B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.175C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313834	0.60414	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	D;D;D;D	0.83250	-1.54;-1.67;-1.54;-1.7	5.25	0.176	0.15049	.	10.463700	0.00166	N	0.000002	D	0.87418	0.6172	L	0.43152	1.355	0.58432	D	0.999998	D;D;P;D	0.61697	0.99;0.968;0.688;0.983	P;P;B;P	0.58391	0.838;0.6;0.433;0.48	T	0.73808	-0.3866	10	0.87932	D	0	.	13.4383	0.61096	0.0:0.0:0.2949:0.7051	.	59;59;59;59	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	W	59;59;59;59;140	ENSP00000343158:R59W;ENSP00000441174:R59W;ENSP00000341138:R59W;ENSP00000382981:R59W	ENSP00000343158:R59W	R	-	1	2	EPB41L3	5479008	1.000000	0.71417	0.108000	0.21378	0.794000	0.44872	2.303000	0.43646	-0.198000	0.10333	-0.321000	0.08615	CGG		0.672	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5489008	G	A	5489008	3	1	62	1	0	0	0	0	1	0	0	0	5154	1086	38	1	3172	1	EPB41L3	18	5489008	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		5489008	72588240	71	4121											
LAMA3	3909	broad.mit.edu	37	chr18	21338466	21338466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcttgggagcagagccacGagtgtgaaggtgggtgtggg	7	7	20	7	2	0	2	0	1	0	1	0	4	0	3	2	4	2	2	2	4	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:21338466G>A	ENST00000313654.9	+	7	1295	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E352K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	352	Domain V.|Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCAGAGCCACGAGTGTGAAGG	0.647																																						uc002kuq.3																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1054-1056)Gag>Aag		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						21	26	24					18																	21338466		1951	4123	6074	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21338466G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1054G>A	18.37:g.21338466G>A	ENSP00000324532:p.Glu352Lys					LAMA3_uc010dlv.2_Missense_Mutation_p.E352K|LAMA3_uc002kur.3_Missense_Mutation_p.E352K	p.E352K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			6	1140	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		352			Domain V.|Laminin EGF-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1054G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453277	0.26161	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.63096	-0.02;-0.02	5.23	5.23	0.72850	EGF-like, laminin (3);	.	.	.	.	T	0.65616	0.2708	M	0.88377	2.95	0.80722	D	1	D;D;P	0.53885	0.959;0.963;0.776	B;B;B	0.43536	0.423;0.311;0.157	T	0.67321	-0.5700	9	0.14252	T	0.57	.	11.2375	0.48949	0.0932:0.0:0.9068:0.0	.	352;352;352	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	K	352;352;350;352	ENSP00000324532:E352K;ENSP00000382432:E352K	ENSP00000324532:E352K	E	+	1	0	LAMA3	19592464	1.000000	0.71417	0.913000	0.36048	0.212000	0.24457	6.884000	0.75600	2.442000	0.82660	0.655000	0.94253	GAG		0.647	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21338466	G	A	21338466	3	1	62	1	0	0	0	0	1	0	0	0	8607	1059	37	2	1080	2	LAMA3	18	21338466	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	15849458	21338466	56738782	72	4122											
TAF4B	6875	broad.mit.edu	37	chr18	23873445	23873445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattctgtcacttcaagcAtctcctactcagaaaaatag	16	11	4	10	0	5	1	3	0	2	1	6	1	5	1	1	0	2	1	1	0	7	4	rs201212556		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:23873445A>G	ENST00000269142.5	+	9	2780	c.1782A>G	c.(1780-1782)gcA>gcG	p.A594A	TAF4B_ENST00000578121.1_Silent_p.A599A|TAF4B_ENST00000400466.2_Silent_p.A594A	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	594					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTTCAAGCATCTCCTACTC	0.269													A|||	1	0.000199681	0	0	5008	,	,		15317	0.001		0	False		,,,				2504	0					uc002kvt.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1795-1797)gcA>gcG		Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.							41	40	40					18																	23873445		1789	4048	5837	SO:0001819	synonymous_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23873445A>G	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1782A>G	18.37:g.23873445A>G						TAF4B_uc002kvu.4_Silent_p.A594A|TAF4B_uc002kvs.4_Non-coding_Transcript	p.A599A	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		8	2286	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		594					Q29YA4|Q29YA5	Silent	SNP	ENST00000269142.5	37	c.1797A>G	CCDS42421.1																																																																																				0.269	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		G	23873445	A	G	23873445	2	3	62	1	0	0	0	0	0	0	0	1	15524	204	8	4		4	TAF4B	18	23873445	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	2534979	23873445	54203803	73	4123											
BEST2	54831	broad.mit.edu	37	chr19	12864093	12864093	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtgctgaccgaagggCagaagcgctacttcgagaag	10	8	14	9	3	0	3	0	1	0	2	1	5	0	3	1	1	3	4	1	1	4	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:12864093C>T	ENST00000549706.1	+	3	496	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	BEST2_ENST00000042931.1_Nonsense_Mutation_p.Q58*|BEST2_ENST00000553030.1_Nonsense_Mutation_p.Q58*			Q8NFU1	BEST2_HUMAN	bestrophin 2	58					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GACCGAAGGGCAGAAGCGCTA	0.567																																						uc002mux.3																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(172-174)Cag>Tag		Homo sapiens bestrophin 2 (BEST2), mRNA.							162	153	156					19																	12864093		2044	4184	6228	SO:0001587	stop_gained	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12864093C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.172C>T	19.37:g.12864093C>T	ENSP00000448310:p.Gln58*						p.Q58*	NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN			1	172	+			58					Q53YQ8|Q9NXP0	Nonsense_Mutation	SNP	ENST00000549706.1	37	c.172C>T	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	37	5.983886	0.97173	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	.	.	.	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.4543	15.148	0.72674	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000042931:Q58X	Q	+	1	0	BEST2	12725093	1.000000	0.71417	0.977000	0.42913	0.455000	0.32408	7.704000	0.84595	1.944000	0.56390	0.313000	0.20887	CAG		0.567	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		T	12864093	C	T	12864093	4	4	62	1	0	0	0	0	0	1	0	0	1405	711	25	3	178	3	BEST2	19	12864093	Nonsense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		12864093	46264890	74	4124											
OR7A10	390892	broad.mit.edu	37	chr19	14951796	14951796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgttttcatagcaccCtttatgtgtttattcctcag	10	17	6	8	0	2	1	2	0	0	1	3	1	3	1	2	0	1	3	2	0	5	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:14951796C>A	ENST00000248058.1	-	1	893	c.894G>T	c.(892-894)aaG>aaT	p.K298N		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TCATAGCACCCTTTATGTGTT	0.468																																						uc002mzx.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(892-894)aaG>aaT		Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.							83	81	82					19																	14951796		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14951796C>A		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.894G>T	19.37:g.14951796C>A	ENSP00000248058:p.Lys298Asn						p.K298N	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			0	894	-	Ovarian(108;0.203)		298					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.894G>T	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	c	4.232	0.041921	0.08196	.	.	ENSG00000127515	ENST00000248058	T	0.40756	1.02	2.75	2.75	0.32379	.	0.391216	0.17888	U	0.158616	T	0.58308	0.2113	H	0.95260	3.645	0.22034	N	0.999403	B	0.33198	0.401	B	0.39771	0.309	T	0.59220	-0.7495	10	0.66056	D	0.02	.	9.2305	0.37434	0.0:1.0:0.0:0.0	.	298	O76100	OR7AA_HUMAN	N	298	ENSP00000248058:K298N	ENSP00000248058:K298N	K	-	3	2	OR7A10	14812796	0.000000	0.05858	0.048000	0.18961	0.154000	0.21943	-0.884000	0.04166	1.590000	0.49995	0.134000	0.15878	AAG		0.468	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		A	14951796	C	A	14951796	3	1	62	1	0	0	0	0	1	0	0	0	11214	680	24	5	39	5	OR7A10	19	14951796	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	2087703	14951796	44177187	75	4125											
MAP1S	55201	broad.mit.edu	37	chr19	17838511	17838511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccggtcacaggaacGggcaggtgggctgggggccg	6	4	20	11	3	1	0	1	0	0	0	1	1	1	1	2	7	2	2	2	7	1	0	rs540976741		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:17838511G>A	ENST00000324096.4	+	5	2469	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R747Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	773	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCACAGGAACGGGCAGGTGGG	0.687													G|||	1	0.000199681	8e-04	0	5008	,	,		13468	0		0	False		,,,				2504	0					uc002nhe.1																			0		p.R773R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2317-2319)cGg>cAg		Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.							18	19	18					19																	17838511		2194	4293	6487	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838511G>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2318G>A	19.37:g.17838511G>A	ENSP00000325313:p.Arg773Gln					MAP1S_uc010eaz.2_Missense_Mutation_p.R386Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q	p.R773Q	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			4	2327	+			773			Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2318G>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223332	0.39300	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.16457	2.34;2.35	4.81	-1.75	0.08031	.	0.506800	0.16684	N	0.203813	T	0.10465	0.0256	L	0.45581	1.43	0.09310	N	1	B;B	0.24618	0.04;0.107	B;B	0.15870	0.009;0.014	T	0.22068	-1.0227	10	0.56958	D	0.05	-18.5764	1.0813	0.01643	0.188:0.1273:0.2876:0.3972	.	747;773	B4DH53;Q66K74	.;MAP1S_HUMAN	Q	773;747	ENSP00000325313:R773Q;ENSP00000439243:R747Q	ENSP00000325313:R773Q	R	+	2	0	MAP1S	17699511	1.000000	0.71417	0.169000	0.22859	0.006000	0.05464	1.621000	0.36986	0.091000	0.17302	-0.291000	0.09656	CGG		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		A	17838511	G	A	17838511	3	1	62	1	0	0	0	0	1	0	0	0	9234	1116	39	2	2336	2	MAP1S	19	17838511	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	2886715	17838511	41290472	76	4126											
CEACAM5	1048	broad.mit.edu	37	chr19	42218934	42218934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaacaactccaaacccGtggaggacaaggatgctgtg	13	5	11	12	1	0	0	0	0	0	0	1	3	1	3	3	3	5	2	3	3	4	0	rs368068137		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:42218934G>A	ENST00000221992.6	+	3	583	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	CEACAM5_ENST00000398599.4_Missense_Mutation_p.V157M|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.V157M	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	157	Ig-like 2.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCCAAACCCGTGGAGGACAA	0.562																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(469-471)Gtg>Atg		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.		G	MET/VAL	0,4406		0,0,2203	135	124	128		469	0.6	0	19		128	2,8594		0,2,4296	no	missense	CEACAM5	NM_004363.2	21	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	157/703	42218934	2,13000	2203	4298	6501	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42218934G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.469G>A	19.37:g.42218934G>A	ENSP00000221992:p.Val157Met					CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M	p.V157M	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	590	+			157			Ig-like 2.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.469G>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	10.89|10.89	1.479585|1.479585	0.26511|0.26511	0.0|0.0	2.33E-4|2.33E-4	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.56275	.|0.47;0.47	2.94|2.94	0.547|0.547	0.17202|0.17202	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.67420|0.67420	0.2891|0.2891	M|M	0.82716|0.82716	2.605|2.605	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.63880	.|0.755;0.993;0.976	.|B;D;P	.|0.65684	.|0.389;0.937;0.887	T|T	0.54642|0.54642	-0.8263|-0.8263	5|9	.|0.49607	.|T	.|0.09	.|.	5.9987|5.9987	0.19509|0.19509	0.2771:0.0:0.7229:0.0|0.2771:0.0:0.7229:0.0	.|.	.|157;157;157	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	H|M	153|157	.|ENSP00000221992:V157M;ENSP00000385072:V157M	.|ENSP00000221992:V157M	R|V	+|+	2|1	0|0	CEACAM5|CEACAM5	46910774|46910774	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.017000|0.017000	0.09413|0.09413	-0.939000|-0.939000	0.03933|0.03933	-0.039000|-0.039000	0.13602|0.13602	-1.112000|-1.112000	0.02068|0.02068	CGT|GTG		0.562	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42218934	G	A	42218934	3	1	62	1	0	0	0	0	1	0	0	0	3195	1145	40	1	479	1	CEACAM5	19	42218934	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	24380423	42218934	16910049	77	4127											
FUT1	2523	broad.mit.edu	37	chr19	49253828	49253828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggaggtaggcgctgtcGcccaccacacccttccagcg	6	6	12	17	4	0	0	0	0	0	0	2	1	1	1	5	3	2	2	5	3	1	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:49253828G>A	ENST00000310160.3	-	4	1685	c.711C>T	c.(709-711)ggC>ggT	p.G237G	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	237					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657																																						uc002pkk.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(709-711)ggC>ggT		Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.							77	70	72					19																	49253828		2203	4299	6502	SO:0001819	synonymous_variant	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253828G>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.711C>T	19.37:g.49253828G>A						FUT1_uc021uwy.1_Silent_p.G237G	p.G237G	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	3	1686	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	237					O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	c.711C>T	CCDS12733.1																																																																																				0.657	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		A	49253828	G	A	49253828	2	1	62	1	0	0	0	0	0	0	0	1	6101	1074	38	1		1	FUT1	19	49253828	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	7034894	49253828	9875155	78	4128											
NLRP12	91662	broad.mit.edu	37	chr19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacacattcccctaggCgcgcattgcggtcttccatg	6	11	11	13	3	1	1	0	1	1	0	3	1	3	1	3	3	1	2	3	3	1	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:54314476C>T	ENST00000324134.6	-	3	605	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NLRP12_ENST00000535162.1_Missense_Mutation_p.R146H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R146L(1)|p.R146H(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCTAGGCGCGCATTGCG	0.567																																						uc002qcj.4																			2	Substitution - Missense(2)	p.R146L(2)|p.R146H(2)|p.A145A(1)	large_intestine(1)|lung(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(436-438)cGc>cAc		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							91	88	89					19																	54314476		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314476C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.437G>A	19.37:g.54314476C>T	ENSP00000319377:p.Arg146His					NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R146H|NLRP12_uc002qci.4_Missense_Mutation_p.R146H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R146H	p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	657	-	Ovarian(34;0.19)		146					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.437G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314812	0.40996	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.47	4.47	0.54385	.	0.000000	0.42294	D	0.000728	D	0.92831	0.7720	M	0.78801	2.425	0.26209	N	0.979335	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.85993	0.1490	10	0.33940	T	0.23	.	11.0466	0.47863	0.0:0.8111:0.1889:0.0	.	146;146;146;146	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	146	ENSP00000319377:R146H;ENSP00000438030:R146H;ENSP00000340473:R146H;ENSP00000346231:R146H;ENSP00000375655:R146H;ENSP00000375653:R146H;ENSP00000375652:R146H	ENSP00000319377:R146H	R	-	2	0	NLRP12	59006288	0.005000	0.15991	0.678000	0.29963	0.982000	0.71751	1.658000	0.37376	2.228000	0.72767	0.306000	0.20318	CGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54314476	C	T	54314476	3	4	62	1	0	0	0	0	1	0	0	0	10474	768	27	1	2876	1	NLRP12	19	54314476	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	5060648	54314476	4814507	79	4129											
SAPS1	22870	broad.mit.edu	37	chr19	55742009	55742009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggggatgcaggcccttccgGggcagagccattgggtatcg	6	8	17	10	2	0	1	0	0	0	1	2	2	1	2	3	6	2	3	3	6	1	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:55742009G>T	ENST00000412770.2	-	23	3180	c.2614C>A	c.(2614-2616)Ccg>Acg	p.P872T	PPP6R1_ENST00000587283.1_Missense_Mutation_p.P872T|TMEM86B_ENST00000327042.4_5'Flank	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	872	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						GGCCCTTCCGGGGCAGAGCCA	0.677																																						uc002qjv.3																			0				breast(1)	1						c.(2800-2802)Ccg>Acg		Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.							29	34	32					19																	55742009		2025	4182	6207	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55742009G>T	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2614C>A	19.37:g.55742009G>T	ENSP00000414202:p.Pro872Thr					TMEM86B_uc002qjt.3_5'Flank|TMEM86B_uc002qju.3_5'Flank|PPP6R1_uc002qjw.4_Missense_Mutation_p.P872T	p.P934T	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN			21	2883	-			872					Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.2800C>A	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	4.589	0.109471	0.08780	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.53640	0.61	3.74	-2.4	0.06583	.	0.330843	0.22228	N	0.062855	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.002;0.006	T	0.05162	-1.0902	10	0.30854	T	0.27	-4.4596	0.584	0.00717	0.203:0.1594:0.3116:0.326	.	872;234	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	T	387;872	ENSP00000414202:P872T	ENSP00000414202:P872T	P	-	1	0	PPP6R1	60433821	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.461000	0.21940	-0.298000	0.08921	-1.130000	0.01982	CCG		0.677	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		T	55742009	G	T	55742009	3	4	62	1	0	0	0	0	1	0	0	0	13836	1232	43	5	39	5	SAPS1	19	55742009	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	1427533	55742009	3386974	80	4130											
C20orf196	149840	broad.mit.edu	37	chr20	5843987	5843987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttacagaggcattccaggGacacccacttctacccactg	10	9	7	15	0	2	1	0	0	2	1	3	2	3	2	3	2	2	1	3	2	2	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:5843987G>T	ENST00000303142.6	+	3	583	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	166										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCATTCCAGGGACACCCACTT	0.512																																						uc002wmf.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(496-498)Gac>Tac		Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.							79	76	77					20																	5843987		2203	4300	6503	SO:0001583	missense	149840							g.chr20:5843987G>T	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.496G>T	20.37:g.5843987G>T	ENSP00000305875:p.Asp166Tyr						p.D166Y	NM_152504	NP_689717	Q8IYI0	CT196_HUMAN			2	583	+			166					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.496G>T	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535822	0.27475	.	.	ENSG00000171984	ENST00000303142	T	0.53857	0.6	5.86	2.73	0.32206	.	0.375145	0.25845	N	0.027940	T	0.62122	0.2402	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.65874	0.939	T	0.51601	-0.8685	10	0.87932	D	0	-3.0241	5.926	0.19112	0.1667:0.1555:0.6778:0.0	.	166	Q8IYI0	CT196_HUMAN	Y	166	ENSP00000305875:D166Y	ENSP00000305875:D166Y	D	+	1	0	C20orf196	5791987	0.889000	0.30405	0.010000	0.14722	0.004000	0.04260	1.752000	0.38349	0.836000	0.34901	-0.126000	0.14955	GAC		0.512	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		T	5843987	G	T	5843987	3	4	62	1	0	0	0	0	1	0	0	0	2101	1174	41	5	502	5	C20orf196	20	5843987	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		5843987	57181533	81	4131											
DLGAP4	22839	broad.mit.edu	37	chr20	35060659	35060659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggaggacggcaagggccGgagggccaaaagcaaggagc	13	1	18	9	2	0	0	0	0	0	0	0	4	0	4	2	7	2	2	2	7	4	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:35060659G>A	ENST00000373907.2	+	2	738	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	DLGAP4_ENST00000401952.2_Missense_Mutation_p.R180Q|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R180Q|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R180Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	180					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGCAAGGGCCGGAGGGCCAAA	0.647																																						uc002xff.3																			0		p.R180W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(538-540)cGg>cAg		Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.							37	44	42					20																	35060659		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060659G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.539G>A	20.37:g.35060659G>A	ENSP00000363014:p.Arg180Gln					DLGAP4_uc010zvp.2_Missense_Mutation_p.R180Q	p.R180Q	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			2	974	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	180					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.539G>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.412960	0.83449	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.53	4.59	0.56863	.	0.298816	0.36972	N	0.002312	T	0.44746	0.1308	M	0.70275	2.135	0.52099	D	0.999946	D	0.89917	1.0	D	0.85130	0.997	T	0.38908	-0.9639	10	0.49607	T	0.09	.	13.3659	0.60684	0.0755:0.0:0.9245:0.0	.	180	Q9Y2H0-1	.	Q	180	ENSP00000363023:R180Q;ENSP00000384954:R180Q;ENSP00000363014:R180Q;ENSP00000341633:R180Q	ENSP00000341633:R180Q	R	+	2	0	DLGAP4	34494073	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.863000	0.99569	1.334000	0.45468	0.561000	0.74099	CGG		0.647	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35060659	G	A	35060659	3	1	62	1	0	0	0	0	1	0	0	0	4562	1116	39	2	541	2	DLGAP4	20	35060659	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	29216672	35060659	27964861	82	4132											
NFATC2	4773	broad.mit.edu	37	chr20	50133367	50133367	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagctttgacagcccctcGgctgccttctgtctcatagt	5	13	10	13	1	2	1	1	1	2	0	4	2	2	2	3	2	3	2	3	2	1	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:50133367G>A	ENST00000396009.3	-	3	1507	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R211*|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.R430*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R410*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R211*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R410*	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	430	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACAGCCCCTCGGCTGCCTTCT	0.557																																						uc002xwd.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1288-1290)Cga>Tga		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							87	78	81					20																	50133367		2203	4300	6503	SO:0001587	stop_gained	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50133367G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1288C>T	20.37:g.50133367G>A	ENSP00000379330:p.Arg430*					NFATC2_uc002xwc.3_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R410*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R211*	p.R430*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1508	-	Hepatocellular(150;0.248)		430			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	37	c.1288C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579528	0.98371	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	.	.	.	5.25	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6532	15.2933	0.73882	0.0:0.0:0.8589:0.1411	.	.	.	.	X	430;430;211;410	.	ENSP00000360619:R430X	R	-	1	2	NFATC2	49566774	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	2.331000	0.43894	1.204000	0.43247	-0.175000	0.13238	CGA		0.557	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		A	50133367	G	A	50133367	4	1	62	1	0	0	0	0	0	1	0	0	10362	1124	39	2	1569	2	NFATC2	20	50133367	Nonsense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	15072708	50133367	12892153	83	4133											
COL20A1	57642	broad.mit.edu	37	chr20	61943349	61943349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggagggtgccccgaGgcctgtgcgcctggtcaggg	3	8	19	11	2	2	0	1	0	1	0	2	2	2	1	4	5	2	1	4	5	0	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:61943349G>A	ENST00000358894.6	+	14	1845	c.1745G>A	c.(1744-1746)aGg>aAg	p.R582K	COL20A1_ENST00000326996.6_Missense_Mutation_p.R582K|COL20A1_ENST00000435874.1_Missense_Mutation_p.R589K|COL20A1_ENST00000422202.1_Missense_Mutation_p.R589K	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	582	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGCCCCGAGGCCTGTGCGC	0.682																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1744-1746)aGg>aAg		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							23	28	27					20																	61943349		1990	4156	6146	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61943349G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1745G>A	20.37:g.61943349G>A	ENSP00000351767:p.Arg582Lys					COL20A1_uc011aav.2_Missense_Mutation_p.R403K	p.R582K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			13	1845	+	all_cancers(38;1.39e-10)		582			Fibronectin type-III 4.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1745G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	1.185	-0.636897	0.03557	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	3.62	1.57	0.23409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.754958	0.12311	N	0.480234	T	0.07773	0.0195	L	0.42245	1.32	0.09310	N	1	P;D	0.53462	0.951;0.96	P;P	0.54270	0.631;0.747	T	0.34502	-0.9826	10	0.20046	T	0.44	.	5.5243	0.16949	0.1184:0.201:0.6805:0.0	.	589;582	Q9P218-2;Q9P218	.;COKA1_HUMAN	K	582;582;589;589	ENSP00000351767:R582K;ENSP00000323077:R582K;ENSP00000408690:R589K;ENSP00000414753:R589K	ENSP00000323077:R582K	R	+	2	0	COL20A1	61413794	0.000000	0.05858	0.031000	0.17742	0.081000	0.17604	-0.554000	0.06006	0.161000	0.19458	0.313000	0.20887	AGG		0.682	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		A	61943349	G	A	61943349	3	1	62	1	0	0	0	0	1	0	0	0	3679	1000	35	3	1795	3	COL20A1	20	61943349	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	11809982	61943349	1082171	84	4134											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066409	46066409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtctgtctgctccagcGcttactccgactcctggcag	5	11	9	16	2	2	0	0	0	2	0	5	1	5	0	4	1	3	3	4	1	1	1	rs190235053		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46066409G>A	ENST00000334670.8	+	1	79	c.34G>A	c.(34-36)Gct>Act	p.A12T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	12						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CTGCTCCAGCGCTTACTCCGA	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		14545	0		0	False		,,,				2504	0					uc002zfr.4																			0		p.S11S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(34-36)Gct>Act		Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.							68	73	71					21																	46066409		2202	4298	6500	SO:0001583	missense	386678					keratin filament		g.chr21:46066409G>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.34G>A	21.37:g.46066409G>A	ENSP00000334197:p.Ala12Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A12T	NM_198692	NP_941965	P60411	KR109_HUMAN			0	79	+			12					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.34G>A	CCDS42962.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	4.947	0.175992	0.09443	.	.	ENSG00000243489	ENST00000334670	T	0.14640	2.49	3.83	0.936	0.19488	.	.	.	.	.	T	0.10637	0.0260	L	0.50333	1.59	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.45086	-0.9285	9	0.02654	T	1	.	10.0224	0.42051	0.2004:0.0:0.7996:0.0	.	12	P60412	KR10B_HUMAN	T	12	ENSP00000334197:A12T	ENSP00000334197:A12T	A	+	1	0	KRTAP10-11	44890837	0.001000	0.12720	0.918000	0.36340	0.006000	0.05464	-1.757000	0.01811	-0.138000	0.11434	-1.327000	0.01280	GCT		0.667	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		A	46066409	G	A	46066409	3	1	62	1	0	0	0	0	1	0	0	0	8507	1087	38	1	36	1	KRTAP10-11	21	46066409	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		46066409	2063486	85	4135											
SLC19A1	6573	broad.mit.edu	37	chr21	46950811	46950811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcctgcgtggccgtgaCgcccgcgatgagcagcttgg	4	6	15	16	6	0	2	0	2	0	0	0	3	0	2	5	2	3	2	5	2	0	1	rs142899279		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46950811C>T	ENST00000311124.4	-	4	1176	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	SLC19A1_ENST00000567670.1_Missense_Mutation_p.V342I|SLC19A1_ENST00000485649.2_Missense_Mutation_p.V302I|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V342I	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	342					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GTGGCCGTGACGCCCGCGATG	0.697																																						uc002zhl.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1024-1026)Gtc>Atc		Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.							17	18	18					21																	46950811		2187	4282	6469	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950811C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1024G>A	21.37:g.46950811C>T	ENSP00000308895:p.Val342Ile					SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc011aft.2_Missense_Mutation_p.V302I|SLC19A1_uc002zhm.2_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.2_Missense_Mutation_p.V221I	p.V342I	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	1177	-			342					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.1024G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	c	10.26	1.300894	0.23650	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.86230	-2.09;-2.09;-2.09	4.16	2.28	0.28536	Major facilitator superfamily domain, general substrate transporter (1);	0.197420	0.43110	N	0.000601	D	0.83672	0.5305	L	0.33137	0.985	0.36274	D	0.855373	D;D;P;D	0.63880	0.993;0.993;0.902;0.993	P;P;B;P	0.53722	0.733;0.733;0.266;0.733	T	0.82016	-0.0666	10	0.23302	T	0.38	-39.1739	9.8994	0.41338	0.0:0.8118:0.0:0.1882	.	302;364;342;342	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	I	89;342;342;302	ENSP00000308895:V342I;ENSP00000369347:V342I;ENSP00000441772:V302I	ENSP00000308895:V342I	V	-	1	0	SLC19A1	45775239	0.952000	0.32445	0.006000	0.13384	0.129000	0.20672	1.887000	0.39698	0.874000	0.35823	0.289000	0.19496	GTC		0.697	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			T	46950811	C	T	46950811	3	4	62	1	0	0	0	0	1	0	0	0	14428	536	19	1	763	1	SLC19A1	21	46950811	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	884402	46950811	1179084	86	4136											
CCT8L2	150160	broad.mit.edu	37	chr22	17073274	17073274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccaggaacttctgcCggccgtgggggccatagcaa	8	7	14	12	2	2	0	1	0	1	0	2	1	2	1	4	5	3	1	4	5	3	2	rs567911712	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:17073274C>T	ENST00000359963.3	-	1	426	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	56					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAACTTCTGCCGGCCGTGGGG	0.642													c|||	2	0.000399361	0	0	5008	,	,		17834	0.002		0	False		,,,				2504	0					uc002zlp.1																			0		p.G55S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(166-168)cGg>cAg		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.							64	65	65					22																	17073274		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073274C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.167G>A	22.37:g.17073274C>T	ENSP00000353048:p.Arg56Gln						p.R56Q	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	427	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	56					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.167G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	15.80	2.941709	0.53079	.	.	ENSG00000198445	ENST00000359963	T	0.80738	-1.41	2.0	2.0	0.26442	.	0.269489	0.18804	U	0.130720	T	0.78799	0.4340	L	0.53249	1.67	0.25771	N	0.984833	D	0.58620	0.983	P	0.50378	0.639	T	0.69873	-0.5027	10	0.66056	D	0.02	-8.6772	7.4831	0.27417	0.0:1.0:0.0:0.0	.	56	Q96SF2	TCPQM_HUMAN	Q	56	ENSP00000353048:R56Q	ENSP00000353048:R56Q	R	-	2	0	CCT8L2	15453274	0.098000	0.21812	0.953000	0.39169	0.690000	0.40134	0.377000	0.20552	1.126000	0.42016	0.393000	0.25936	CGG		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17073274	C	T	17073274	3	4	62	1	0	0	0	0	1	0	0	0	2961	652	23	2	1510	2	CCT8L2	22	17073274	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		17073274	34231292	87	4137											
GNB1L	54584	broad.mit.edu	37	chr22	19799872	19799872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccggccaggatgctgCtccggcagaagcccacactc	7	4	12	18	2	0	1	0	0	0	1	2	2	1	2	5	4	3	3	5	4	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:19799872C>T	ENST00000329517.6	-	5	589	c.353G>A	c.(352-354)aGc>aAc	p.S118N	GNB1L_ENST00000405009.1_Missense_Mutation_p.S118N|GNB1L_ENST00000403325.1_Missense_Mutation_p.S118N|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	118					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CAGGATGCTGCTCCGGCAGAA	0.692																																						uc002zqf.1																			0		p.R117W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(352-354)aGc>aAc		Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.							37	33	34					22																	19799872		2203	4300	6503	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19799872C>T	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.353G>A	22.37:g.19799872C>T	ENSP00000331313:p.Ser118Asn						p.S118N	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			4	590	-	Colorectal(54;0.0993)		118					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.353G>A	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619076	0.28801	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009;ENST00000453108	T;T;T;T	0.56275	1.16;1.16;4.79;0.47	4.96	3.92	0.45320	WD40 repeat-like-containing domain (1);	0.755422	0.11905	U	0.518223	T	0.36358	0.0964	N	0.24115	0.695	0.25008	N	0.991429	P	0.36465	0.554	B	0.32583	0.148	T	0.06303	-1.0834	10	0.13853	T	0.58	-17.8133	13.5059	0.61483	0.0:0.8432:0.1568:0.0	.	118	Q9BYB4	GNB1L_HUMAN	N	118;118;118;76	ENSP00000331313:S118N;ENSP00000385154:S118N;ENSP00000384626:S118N;ENSP00000389412:S76N	ENSP00000331313:S118N	S	-	2	0	GNB1L	18179872	1.000000	0.71417	0.510000	0.27712	0.169000	0.22640	4.193000	0.58385	1.049000	0.40321	0.563000	0.77884	AGC		0.692	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			T	19799872	C	T	19799872	3	4	62	1	0	0	0	0	1	0	0	0	6516	797	28	3	646	3	GNB1L	22	19799872	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	2726598	19799872	31504694	88	4138											
BPIL2	254240	broad.mit.edu	37	chr22	32833790	32833790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagtaatttctggagaaCtgattagggagtaatccagc	12	12	10	7	0	2	2	1	1	2	1	4	4	3	3	1	2	2	2	1	2	4	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:32833790C>T	ENST00000397452.1	-	8	814	c.704G>A	c.(703-705)aGt>aAt	p.S235N	BPIFC_ENST00000300399.3_Missense_Mutation_p.S235N|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.S49N			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	235						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TTCTGGAGAACTGATTAGGGA	0.353																																						uc003amn.2																			0											c.(703-705)aGt>aAt		Homo sapiens BPI fold containing family C (BPIFC), mRNA.							103	96	98					22																	32833790		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833790C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.704G>A	22.37:g.32833790C>T	ENSP00000380594:p.Ser235Asn					BPIFC_uc010gwo.2_Missense_Mutation_p.S49N|BPIFC_uc011amb.1_5'UTR	p.S235N	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			6	704	-			235					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.704G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485141	0.26598	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.05447	3.44;3.44;3.44	5.68	2.15	0.27550	.	0.987485	0.08313	N	0.965061	T	0.06917	0.0176	L	0.47016	1.485	0.19300	N	0.999974	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.42481	-0.9449	10	0.31617	T	0.26	-0.5005	6.175	0.20439	0.0:0.3556:0.0:0.6444	.	49;235	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	N	235;235;49	ENSP00000380594:S235N;ENSP00000300399:S235N;ENSP00000408920:S49N	ENSP00000300399:S235N	S	-	2	0	BPIFC	31163790	0.004000	0.15560	0.293000	0.24932	0.983000	0.72400	0.186000	0.16978	0.233000	0.21120	-0.345000	0.07892	AGT		0.353	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		T	32833790	C	T	32833790	3	4	62	1	0	0	0	0	1	0	0	0	1492	565	20	3	855	3	BPIL2	22	32833790	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	13033918	32833790	18470776	89	4139											
SYN3	8224	broad.mit.edu	37	chr22	33402361	33402361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgggcatcatcgatcAccaacaggatcctgggtctt	9	11	10	11	1	3	0	2	0	1	0	5	2	4	1	2	3	1	2	2	3	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:33402361A>G	ENST00000358763.2	-	2	529	c.287T>C	c.(286-288)gTg>gCg	p.V96A	SYN3_ENST00000332840.5_Missense_Mutation_p.V96A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	96	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATCATCGATCACCAACAGGAT	0.547																																						uc003amx.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(286-288)gTg>gCg		Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.							117	112	114					22																	33402361		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402361A>G	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.287T>C	22.37:g.33402361A>G	ENSP00000351614:p.Val96Ala					SYN3_uc003amy.3_Missense_Mutation_p.V96A|SYN3_uc003amz.3_Missense_Mutation_p.V96A	p.V96A	NM_003490	NP_003481	O14994	SYN3_HUMAN			0	449	-			96			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.287T>C	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541255	0.65085	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.55052	0.54;0.54	5.21	5.21	0.72293	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.64402	D	0.000002	T	0.75917	0.3915	M	0.87617	2.895	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.85130	0.997;0.995;0.997	T	0.80226	-0.1470	10	0.56958	D	0.05	-6.4115	15.3817	0.74661	1.0:0.0:0.0:0.0	.	96;96;96	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	A	96	ENSP00000351614:V96A;ENSP00000330219:V96A	ENSP00000330219:V96A	V	-	2	0	SYN3	31732361	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.111000	0.94308	2.077000	0.62373	0.455000	0.32223	GTG		0.547	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			G	33402361	A	G	33402361	3	3	62	1	0	0	0	0	1	0	0	0	15439	159	6	4	1507	4	SYN3	22	33402361	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	568571	33402361	17902205	90	4140											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605524	5605524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacagaccattgttctCtgccacagccctccagtgac	9	9	8	15	0	1	3	0	2	1	1	3	3	2	3	4	0	2	1	4	0	0	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chrY:5605524C>A	ENST00000215473.6	+	6	3564	c.3564C>A	c.(3562-3564)ctC>ctA	p.L1188L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1188					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCATTGTTCTCTGCCACAGCC	0.582																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3562-3564)ctC>ctA		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605524C>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3564C>A	Y.37:g.5605524C>A						PCDH11Y_uc022ciy.1_5'Flank	p.L1188L	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			4	4298	+			1188					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000215473.6	37	c.3564C>A																																																																																					0.582	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		A	5605524	C	A	5605524	2	1	62	1	0	0	0	0	0	0	0	1	11509	900	32	5		5	PCDH11Y	24	5605524	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08		5605524	53768042	91	4141											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17990973	17990973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacctggagagccctccCgtgtgcctgactgtggggcc	4	8	16	13	1	0	2	0	1	0	1	1	4	1	3	5	4	2	0	5	4	0	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:17990973C>T	ENST00000361221.3	+	26	3051	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	ARHGEF10L_ENST00000434513.1_Silent_p.P959P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.P925P|ARHGEF10L_ENST00000375408.3_Silent_p.P737P|ARHGEF10L_ENST00000167825.4_Silent_p.P667P|ARHGEF10L_ENST00000452522.1_Silent_p.P925P	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	964						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGAGCCCTCCCGTGTGCCTGA	0.692																																						uc001ban.3																			0		p.P964A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2890-2892)ccC>ccT		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							37	39	38					1																	17990973		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17990973C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2892C>T	1.37:g.17990973C>T						ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.3_Silent_p.P925P|ARHGEF10L_uc001bap.3_Silent_p.P920P|ARHGEF10L_uc001baq.3_Silent_p.P725P|ARHGEF10L_uc010ocs.2_Silent_p.P737P|ARHGEF10L_uc001bar.3_Silent_p.P667P|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	p.P964P	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	25	3051	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	964					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.2892C>T	CCDS182.1																																																																																				0.692	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		T	17990973	C	T	17990973	2	4	63	1	0	0	0	0	0	0	0	1	895	639	23	2		2	ARHGEF10L	1	17990973	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		17990973	231259648	1	4142											
FLG	2312	broad.mit.edu	37	chr1	152276886	152276886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatctcctgattgttcGtcattacgagtttgtctgct	6	16	9	10	2	3	1	1	1	2	0	5	3	3	1	2	0	3	3	2	0	1	4	rs144901359		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152276886G>A	ENST00000368799.1	-	3	10511	c.10476C>T	c.(10474-10476)gaC>gaT	p.D3492D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3492	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTTCGTCATTACGAG	0.567									Ichthyosis																													uc001ezu.1																			0		p.D3492Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10474-10476)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.		C		1,4405		0,1,2202	289	282	284		10476	-5.2	0	1	dbSNP_134	284	0,8594		0,0,4297	no	coding-synonymous	FLG	NM_002016.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		3492/4062	152276886	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276886G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10476C>T	1.37:g.152276886G>A							p.D3492D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10512	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3492			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10476C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152276886	G	A	152276886	2	1	63	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152276886	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	134285913	152276886	96973735	2	4143											
LCE2C	353140	broad.mit.edu	37	chr1	152648777	152648777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgactgctgtgagagtgaaCcttctgggggctctggctgc	5	10	15	11	1	2	2	0	2	2	1	2	4	2	2	2	3	3	3	2	3	1	1	rs199924989		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152648777C>A	ENST00000368783.1	+	2	341	c.286C>A	c.(286-288)Cct>Act	p.P96T	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	96	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAGTGAACCTTCTGGGGG	0.662																																						uc021ozc.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(286-288)Cct>Act		Homo sapiens late cornified envelope 2C (LCE2C), mRNA.		C	THR/PRO	1,4383		0,1,2191	32	40	37		286	-1.8	0	1		37	2,8546		0,2,4272	no	missense	LCE2C	NM_178429.2	38	0,3,6463	AA,AC,CC		0.0234,0.0228,0.0232	benign	96/111	152648777	3,12929	2192	4274	6466	SO:0001583	missense	353140				keratinization			g.chr1:152648777C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.286C>A	1.37:g.152648777C>A	ENSP00000357772:p.Pro96Thr					LCE2C_uc001fah.3_Missense_Mutation_p.P96T	p.P96T	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	286	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		96			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.286C>A	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	2.502	-0.315024	0.05422	2.28E-4	2.34E-4	ENSG00000187180	ENST00000368783	T	0.03496	3.91	2.75	-1.78	0.07957	.	.	.	.	.	T	0.01156	0.0038	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47328	-0.9126	9	0.87932	D	0	.	0.5464	0.00655	0.1966:0.36:0.1923:0.2512	.	96	Q5TA81	LCE2C_HUMAN	T	96	ENSP00000357772:P96T	ENSP00000357772:P96T	P	+	1	0	LCE2C	150915401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.270000	0.08584	-0.595000	0.05828	-0.972000	0.02603	CCT		0.662	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		A	152648777	C	A	152648777	3	1	63	1	0	0	0	0	1	0	0	0	8667	507	18	5	288	5	LCE2C	1	152648777	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	371891	152648777	96601844	3	4144											
NUP210L	91181	broad.mit.edu	37	chr1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatgatttccaattcGgaatgtgagaacctttaagg	12	12	10	7	1	0	2	0	2	0	1	2	5	1	4	3	3	1	0	3	3	4	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:154062058G>A	ENST00000368559.3	-	16	2271	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2200-2202)Cga>Tga		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							74	75	75					1																	154062058		1891	4124	6015	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154062058G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2200C>T	1.37:g.154062058G>A	ENSP00000357547:p.Arg734*					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.2200C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	39	7.522494	0.98335	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.57	4.57	0.56435	.	0.150747	0.30752	N	0.008943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-27.8864	15.3044	0.73982	0.0:0.0:1.0:0.0	.	.	.	.	X	734	.	ENSP00000271854:R734X	R	-	1	2	NUP210L	152328682	0.996000	0.38824	0.954000	0.39281	0.941000	0.58515	4.027000	0.57239	2.363000	0.80096	0.467000	0.42956	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154062058	G	A	154062058	4	1	63	1	0	0	0	0	0	1	0	0	10761	1124	39	2	3566	2	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	1413281	154062058	95188563	4	4145											
ARHGAP30	257106	broad.mit.edu	37	chr1	161023102	161023102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgaggatgaactccaCgacgatggattgtacccgca	10	9	13	9	3	0	2	0	2	0	0	1	6	1	4	2	2	2	2	2	2	2	2	rs149577194		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:161023102C>T	ENST00000368013.3	-	6	930	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.V204M|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V27M	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	204	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATGAACTCCACGACGATGGAT	0.562																																						uc001fxl.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(610-612)Gtg>Atg		Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	160	113	129		610,610	4.2	0	1	dbSNP_134	129	0,8600		0,0,4300	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/1102,204/891	161023102	1,13005	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161023102C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.610G>A	1.37:g.161023102C>T	ENSP00000356992:p.Val204Met					ARHGAP30_uc001fxk.3_Missense_Mutation_p.V204M|ARHGAP30_uc001fxm.3_Missense_Mutation_p.V50M|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V50M	p.V204M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		5	956	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		204			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.610G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297994	0.81025	2.27E-4	0.0	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.52983	2.56;2.56;0.64	5.16	4.25	0.50352	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.157522	0.41396	D	0.000891	T	0.63379	0.2506	M	0.87328	2.875	0.41933	D	0.990574	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.71391	-0.4607	10	0.87932	D	0	.	11.4536	0.50167	0.0:0.912:0.0:0.088	.	204;204	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	M	204;204;56;27	ENSP00000356995:V204M;ENSP00000356992:V204M;ENSP00000356994:V27M	ENSP00000356992:V204M	V	-	1	0	ARHGAP30	159289726	1.000000	0.71417	0.043000	0.18650	0.996000	0.88848	4.403000	0.59729	1.180000	0.42898	0.650000	0.86243	GTG		0.562	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		T	161023102	C	T	161023102	3	4	63	1	0	0	0	0	1	0	0	0	879	536	19	1	2723	1	ARHGAP30	1	161023102	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	6961044	161023102	88227519	5	4146											
NLRP3	114548	broad.mit.edu	37	chr1	247607348	247607348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactaatcagaatctcaCgcacctttacctgcgaggca	12	8	7	14	2	2	1	2	0	1	1	3	2	2	1	2	1	3	3	2	1	3	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:247607348C>T	ENST00000336119.3	+	7	3490	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	NLRP3_ENST00000391828.3_Missense_Mutation_p.T915M|NLRP3_ENST00000366497.2_Missense_Mutation_p.T858M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T858M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T801M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T858M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	915					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.T915K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512																																						uc001icr.3																			2	Substitution - Missense(2)	p.T915K(4)	lung(2)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2743-2745)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							198	158	172					1																	247607348		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607348C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2744C>T	1.37:g.247607348C>T	ENSP00000337383:p.Thr915Met					NLRP3_uc001ics.3_Missense_Mutation_p.T858M|NLRP3_uc001icu.3_Missense_Mutation_p.T915M|NLRP3_uc001icw.3_Missense_Mutation_p.T858M|NLRP3_uc001icv.3_Missense_Mutation_p.T801M|NLRP3_uc010pyw.2_Missense_Mutation_p.T893M	p.T915M	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	2882	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	915					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2744C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665710	0.14710	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.06	2.18	0.27775	.	0.288524	0.25244	N	0.032074	T	0.72486	0.3466	M	0.69463	2.115	0.09310	N	0.999998	D;B;P;P;P	0.71674	0.998;0.386;0.56;0.879;0.768	D;B;B;B;B	0.64321	0.924;0.058;0.294;0.354;0.154	T	0.60239	-0.7302	10	0.48119	T	0.1	.	4.9262	0.13894	0.2096:0.6825:0.0:0.1078	.	895;858;801;858;915	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	915;858;915;801;858;858	ENSP00000375704:T915M;ENSP00000355453:T858M;ENSP00000337383:T915M;ENSP00000294752:T801M;ENSP00000355452:T858M;ENSP00000375703:T858M	ENSP00000337383:T915M	T	+	2	0	NLRP3	245673971	0.003000	0.15002	0.130000	0.21974	0.583000	0.36354	-0.426000	0.07008	0.664000	0.31047	0.549000	0.68633	ACG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247607348	C	T	247607348	3	4	63	1	0	0	0	0	1	0	0	0	10478	536	19	1	2770	1	NLRP3	1	247607348	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	86584246	247607348	1643273	6	4147											
TAF1B	9014	broad.mit.edu	37	chr2	9994457	9994457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcccttccaccttagaaCgatgttttacataatttttg	10	18	4	9	1	0	1	0	0	0	1	2	2	2	1	3	0	2	1	3	0	4	8	rs376441869		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:9994457C>T	ENST00000263663.5	+	5	494	c.306C>T	c.(304-306)aaC>aaT	p.N102N	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	102	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACCTTAGAACGATGTTTTAC	0.408																																						uc002qzz.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(304-306)aaC>aaT		Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.		C		0,4406		0,0,2203	134	129	131		306	4.2	1	2		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAF1B	NM_005680.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		102/589	9994457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9994457C>T	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.306C>T	2.37:g.9994457C>T						TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.4_Silent_p.N102N|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	p.N102N	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			4	406	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		102					B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	c.306C>T	CCDS33143.1																																																																																				0.408	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		T	9994457	C	T	9994457	2	4	63	1	0	0	0	0	0	0	0	1	15517	535	19	1		1	TAF1B	2	9994457	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		9994457	233204916	7	4148											
OTOF	9381	broad.mit.edu	37	chr2	26705441	26705441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggggctcatagctgctcTtctgcactgaagtcttgccc	7	11	10	13	0	4	1	1	1	3	0	4	1	4	1	1	2	4	4	1	2	2	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:26705441T>C	ENST00000272371.2	-	14	1538	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R	OTOF_ENST00000403946.3_Missense_Mutation_p.K471R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	471	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGCTGCTCTTCTGCACTGA	0.577																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.3																			0		p.Q470*(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1411-1413)aAg>aGg		Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.							83	79	80					2																	26705441		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26705441T>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1412A>G	2.37:g.26705441T>C	ENSP00000272371:p.Lys471Arg						p.K471R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		471			C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1412A>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247157	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.70631	-0.5;-0.5	5.13	5.13	0.70059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	L	0.37507	1.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.74535	-0.3633	10	0.30078	T	0.28	-21.3599	14.6043	0.68466	0.0:0.0:0.0:1.0	.	471	Q9HC10	OTOF_HUMAN	R	471	ENSP00000272371:K471R;ENSP00000385255:K471R	ENSP00000272371:K471R	K	-	2	0	OTOF	26558945	1.000000	0.71417	0.961000	0.40146	0.868000	0.49771	6.243000	0.72384	1.941000	0.56285	0.459000	0.35465	AAG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			C	26705441	T	C	26705441	3	2	63	1	0	0	0	0	1	0	0	0	11303	1609	56	4	5042	4	OTOF	2	26705441	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	16710984	26705441	216493932	8	4149											
BIRC6	57448	broad.mit.edu	37	chr2	32695356	32695356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccacagttacccatgcaTaggaggacagaaggtattaa	15	7	10	9	0	0	1	0	0	0	1	0	3	0	3	2	3	3	3	2	3	5	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:32695356T>A	ENST00000421745.2	+	31	6602	c.6468T>A	c.(6466-6468)caT>caA	p.H2156Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2156					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACCCATGCATAGGAGGACAG	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(6466-6468)caT>caA		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							58	55	56					2																	32695356		2200	4294	6494	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32695356T>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6468T>A	2.37:g.32695356T>A	ENSP00000393596:p.His2156Gln						p.H2156Q	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			30	6602	+	Acute lymphoblastic leukemia(172;0.155)		2156					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6468T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265188	0.23136	.	.	ENSG00000115760	ENST00000421745	T	0.72615	-0.67	4.9	2.54	0.30619	.	0.273071	0.36628	N	0.002499	T	0.31575	0.0801	N	0.00707	-1.245	0.29804	N	0.832191	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	10	0.11485	T	0.65	.	6.9018	0.24286	0.0:0.3247:0.0:0.6753	.	2156	Q9NR09	BIRC6_HUMAN	Q	2156	ENSP00000393596:H2156Q	ENSP00000393596:H2156Q	H	+	3	2	BIRC6	32548860	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.918000	0.28678	0.735000	0.32537	0.477000	0.44152	CAT		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32695356	T	A	32695356	3	1	63	1	0	0	0	0	1	0	0	0	1438	1403	49	5	6590	5	BIRC6	2	32695356	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	5989915	32695356	210504017	9	4150											
TET3	200424	broad.mit.edu	37	chr2	74275488	74275489	+	Frame_Shift_Del	DEL	AC	AC	-																															acccaccaagagtctgctggAcacacctgccaagagagccc																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:74275488_74275489delAC	ENST00000409262.3	+	1	2039_2040	c.2039_2040delAC	c.(2038-2040)gacfs	p.D680fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	680					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTGCTGGACACACCTGCCA	0.604																																						uc002skb.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2038-2040)gacfs		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.																																				SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74275488_74275489delAC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2039_2040delAC	2.37:g.74275492_74275493delAC	ENSP00000386869:p.Asp680fs					TET3_uc010fez.2_Frame_Shift_Del_p.D680fs	p.D680fs	NM_144993	NP_659430	O43151	TET3_HUMAN			0	2039_2040	+			680					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.2039_2040delAC	CCDS46339.1																																																																																				0.604	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			-	74275489	AC	-	74275488	7	5	63	1	0	1	0	1	0	0	0	0	15768	275	10	0	2041	0	TET3	2	74275488	Frame_Shift_Del	DEL	AC	TCGA-06-0749-01A-01W-0348-08	41580132	74275488	168923885	10	4151											
POTEE	445582	broad.mit.edu	37	chr2	132021710	132021710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcatgaagatcctcacCgagcgtggctataggttcac	10	10	9	12	2	3	2	3	1	0	1	4	3	4	2	3	2	2	2	3	2	4	4	rs373327651		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:132021710C>T	ENST00000356920.5	+	15	2776	c.2682C>T	c.(2680-2682)acC>acT	p.T894T	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	894	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGATCCTCACCGAGCGTGGCT	0.587																																						uc002tsn.2																			0											c.(2680-2682)acC>acT		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.		C		1,4405		0,1,2202	42	43	43		2682		0.2	2		43	2,8560		0,2,4279	no	coding-synonymous	POTEE	NM_001083538.1		0,3,6481	TT,TC,CC		0.0234,0.0227,0.0231		894/1076	132021710	3,12965	2203	4281	6484	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021710C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2682C>T	2.37:g.132021710C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T494T|POTEE_uc002tsl.2_Silent_p.T476T|POTEE_uc010fmy.1_Silent_p.T358T	p.T894T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			14	2734	+			894			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2682C>T	CCDS46414.1																																																																																				0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132021710	C	T	132021710	2	4	63	1	0	0	0	0	0	0	0	1	12264	639	23	2		2	POTEE	2	132021710	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	57746222	132021710	111177663	11	4152											
MYO1B	4430	broad.mit.edu	37	chr2	192275792	192275792	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctcatatctcacagTgtaaaaaatacagggaccaa	15	12	5	9	0	3	0	2	0	3	0	5	1	3	1	1	1	1	1	1	1	6	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:192275792T>C	ENST00000392318.3	+	27	3014	c.2767T>C	c.(2767-2769)Tgt>Cgt	p.C923R	MYO1B_ENST00000392316.1_Splice_Site_p.C894R|MYO1B_ENST00000339514.4_Splice_Site_p.C865R|MYO1B_ENST00000304164.4_Splice_Site_p.C923R|MYO1B_ENST00000439065.2_Splice_Site_p.C168R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	923					actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TATCTCACAGTGTAAAAAATA	0.308																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.e27-1		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							63	69	67					2																	192275792		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192275792T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2767-1T>C	2.37:g.192275792T>C						MYO1B_uc002usq.2_Splice_Site_p.C865_splice|MYO1B_uc002usr.2_Splice_Site_p.C923_splice|MYO1B_uc002usu.2_Splice_Site_p.C168_splice	p.C923_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		27	3022	+			923					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2767_splice	CCDS46477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.010056|4.010056	0.75046|0.75046	.|.	.|.	ENSG00000128641|ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065|ENST00000427152	D;D;D;D;T|.	0.88124|.	-2.3;-2.34;-2.34;-2.34;0.14|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74374|0.74374	0.3708|0.3708	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	P;D;D|.	0.77004|.	0.88;0.985;0.989|.	T|T	0.74822|0.74822	-0.3534|-0.3534	10|5	0.52906|.	T|.	0.07|.	.|.	14.7708|14.7708	0.69675|0.69675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	168;923;865|.	E7EPB4;O43795;O43795-2|.	.;MYO1B_HUMAN;.|.	R|A	865;923;923;894;168|1	ENSP00000341903:C865R;ENSP00000376132:C923R;ENSP00000306382:C923R;ENSP00000376130:C894R;ENSP00000391442:C168R|.	ENSP00000306382:C923R|.	C|V	+|+	1|2	0|0	MYO1B|MYO1B	191984037|191984037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.186000|7.186000	0.77722|0.77722	2.285000|2.285000	0.76669|0.76669	0.528000|0.528000	0.53228|0.53228	TGT|GTG		0.308	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Missense_Mutation	C	192275792	T	C	192275792	5	2	63	1	0	0	0	0	0	0	1	0	10069	1710	59	4	2869	4	MYO1B	2	192275792	Splice_Site	SNP	T	TCGA-06-0749-01A-01W-0348-08	60254082	192275792	50923581	12	4153											
FGD5	152273	broad.mit.edu	37	chr3	14862751	14862751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctcctccctcatctttTatagagatggcaagaggaaa	11	10	7	13	0	2	2	1	0	1	2	4	4	4	3	4	2	0	1	4	2	4	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:14862751T>A	ENST00000285046.5	+	1	2283	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	FGD5_ENST00000543601.1_Missense_Mutation_p.Y484N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	725					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTCATCTTTTATAGAGATGG	0.577																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2173-2175)Tat>Aat		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							50	52	52					3																	14862751		1873	4103	5976	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862751T>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2173T>A	3.37:g.14862751T>A	ENSP00000285046:p.Tyr725Asn					FGD5_uc011avk.2_Missense_Mutation_p.Y725N	p.Y725N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	2283	+			725					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2173T>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018609	0.35606	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77358	-1.09;-0.89	5.03	2.59	0.31030	.	0.121076	0.37623	N	0.002012	T	0.74076	0.3669	M	0.67953	2.075	0.39584	D	0.969488	P;P	0.43826	0.818;0.483	B;B	0.42653	0.394;0.189	T	0.72701	-0.4214	10	0.62326	D	0.03	-7.7643	7.993	0.30252	0.0:0.0714:0.1367:0.7919	.	484;725	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	N	725;484	ENSP00000285046:Y725N;ENSP00000445949:Y484N	ENSP00000285046:Y725N	Y	+	1	0	FGD5	14837755	1.000000	0.71417	0.211000	0.23655	0.977000	0.68977	4.406000	0.59748	0.334000	0.23590	0.482000	0.46254	TAT		0.577	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14862751	T	A	14862751	3	1	63	1	0	0	0	0	1	0	0	0	5836	1754	61	5	2175	5	FGD5	3	14862751	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08		14862751	183159679	13	4154											
DAG1	1605	broad.mit.edu	37	chr3	49568839	49568839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtggtgggttggcacAtcgccaataagaagccccct	9	8	11	13	1	0	1	0	0	0	1	1	1	0	1	4	3	1	2	4	3	3	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:49568839A>G	ENST00000539901.1	+	3	1453	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	DAG1_ENST00000545947.1_Missense_Mutation_p.I299V|DAG1_ENST00000308775.2_Missense_Mutation_p.I299V|DAG1_ENST00000541308.1_Missense_Mutation_p.I299V|DAG1_ENST00000515359.2_Missense_Mutation_p.I299V|DAG1_ENST00000538711.1_Missense_Mutation_p.I299V	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	299	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGTTGGCACATCGCCAATAA	0.597																																						uc021wxz.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(895-897)Atc>Gtc		Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.							83	78	80					3																	49568839		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49568839A>G	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.895A>G	3.37:g.49568839A>G	ENSP00000439334:p.Ile299Val					DAG1_uc021wya.1_Missense_Mutation_p.I299V|DAG1_uc021wyb.1_Missense_Mutation_p.I299V|DAG1_uc021wyc.1_Missense_Mutation_p.I299V|DAG1_uc021wyd.1_Missense_Mutation_p.I299V|DAG1_uc021wye.1_Missense_Mutation_p.I299V|DAG1_uc021wyf.1_Missense_Mutation_p.I299V|DAG1_uc021wyg.1_Missense_Mutation_p.I299V|DAG1_uc021wyh.1_Missense_Mutation_p.I299V|DAG1_uc021wyi.1_Missense_Mutation_p.I299V|DAG1_uc021wyj.1_Missense_Mutation_p.I299V|DAG1_uc021wyk.1_Missense_Mutation_p.I299V|DAG1_uc003cxc.4_Missense_Mutation_p.I299V	p.I299V	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	1364	+			299			Required for laminin recognition.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.895A>G	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144182	0.37825	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.9	5.9	0.94986	.	0.044737	0.85682	D	0.000000	T	0.66336	0.2779	N	0.21194	0.64	0.58432	D	0.999999	B	0.25521	0.128	B	0.29176	0.099	T	0.62072	-0.6931	10	0.14252	T	0.57	-18.466	15.3137	0.74056	1.0:0.0:0.0:0.0	.	299	Q14118	DAG1_HUMAN	V	299;299;299;299;299;299;98	ENSP00000440705:I299V;ENSP00000312435:I299V;ENSP00000442600:I299V;ENSP00000440590:I299V;ENSP00000439334:I299V;ENSP00000438421:I299V	ENSP00000312435:I299V	I	+	1	0	DAG1	49543843	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	9.331000	0.96430	2.255000	0.74692	0.523000	0.50628	ATC		0.597	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			G	49568839	A	G	49568839	3	3	63	1	0	0	0	0	1	0	0	0	4225	217	8	4	901	4	DAG1	3	49568839	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08	34706088	49568839	148453591	14	4155											
CASR	846	broad.mit.edu	37	chr3	121980530	121980530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaattgcagctgatgaCgactatgggcggccggggat	9	7	16	9	3	0	2	0	2	0	0	0	4	0	3	1	5	2	3	1	5	2	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:121980530C>T	ENST00000490131.1	+	4	1020	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000498619.1_Silent_p.D216D|CASR_ENST00000296154.5_Silent_p.D216D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	216					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D216D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537																																						uc003eew.4																			1	Substitution - coding silent(1)	p.D216D(2)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(646-648)gaC>gaT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						125	134	131					3																	121980530		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980530C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.648C>T	3.37:g.121980530C>T						CASR_uc003eev.4_Silent_p.D216D	p.D216D	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	1086	+			216					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.648C>T	CCDS3010.1																																																																																				0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	121980530	C	T	121980530	2	4	63	1	0	0	0	0	0	0	0	1	2682	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	72411691	121980530	76041900	15	4156											
ADCY5	111	broad.mit.edu	37	chr3	123038564	123038564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcaggaggaacttgCggacgtgctcagaccgaagc	11	6	15	9	3	2	2	2	1	0	1	2	6	2	5	1	4	4	1	1	4	3	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:123038564C>T	ENST00000462833.1	-	10	3425	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R388H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R371H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	738					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGAACTTGCGGACGTGCTC	0.587																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2212-2214)cGc>cAc		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							97	83	88					3																	123038564		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123038564C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2213G>A	3.37:g.123038564C>T	ENSP00000419361:p.Arg738His					ADCY5_uc021xdd.1_Missense_Mutation_p.R388H|ADCY5_uc003egg.2_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H	p.R738H	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	9	2213	-			738					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2213G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267084	0.59540	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.13	5.13	0.70059	.	0.079450	0.50627	D	0.000113	T	0.70753	0.3260	N	0.25647	0.755	0.49798	D	0.999827	B;D	0.58970	0.15;0.984	B;P	0.57425	0.041;0.82	T	0.64011	-0.6507	10	0.11794	T	0.64	.	12.1517	0.54053	0.0:0.9223:0.0:0.0777	.	738;371	O95622;B3KWA8	ADCY5_HUMAN;.	H	738;371;388;297	ENSP00000419361:R738H;ENSP00000418537:R371H;ENSP00000308685:R388H;ENSP00000420082:R297H	ENSP00000308685:R388H	R	-	2	0	ADCY5	124521254	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.213000	0.51153	2.686000	0.91538	0.637000	0.83480	CGC		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123038564	C	T	123038564	3	4	63	1	0	0	0	0	1	0	0	0	297	768	27	1	1620	1	ADCY5	3	123038564	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	1058034	123038564	74983866	16	4157											
PIGZ	80235	broad.mit.edu	37	chr3	196675037	196675037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagggtttgtggctccaCgagtgccccagaggtagagg	9	7	15	10	1	0	2	0	0	0	2	1	3	1	2	4	4	2	3	4	4	2	2	rs202144183		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:196675037C>T	ENST00000412723.1	-	3	877	c.731G>A	c.(730-732)cGt>cAt	p.R244H	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	244					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGTGGCTCCACGAGTGCCCCA	0.637													C|||	1	0.000199681	0	0	5008	,	,		16360	0.001		0	False		,,,				2504	0					uc003fxh.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(730-732)cGt>cAt		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.							34	41	39					3																	196675037		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675037C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.731G>A	3.37:g.196675037C>T	ENSP00000413405:p.Arg244His						p.R244H	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	878	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		244					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.731G>A	CCDS3324.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.434	0.080333	0.08533	.	.	ENSG00000119227	ENST00000412723	T	0.64260	-0.09	5.04	2.05	0.26809	.	0.901081	0.09432	N	0.802901	T	0.41789	0.1174	N	0.16233	0.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24404	-1.0161	10	0.15499	T	0.54	1.8668	7.565	0.27874	0.0:0.6343:0.0:0.3657	.	244	Q86VD9	PIGZ_HUMAN	H	244	ENSP00000413405:R244H	ENSP00000413405:R244H	R	-	2	0	PIGZ	198159434	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	0.133000	0.15912	0.180000	0.19960	-0.390000	0.06520	CGT		0.637	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		T	196675037	C	T	196675037	3	4	63	1	0	0	0	0	1	0	0	0	11905	536	19	1	1012	1	PIGZ	3	196675037	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	73636473	196675037	1347393	17	4158											
RBM47	54502	broad.mit.edu	37	chr4	40440359	40440359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtcggccgcgctggcGtagacgatcacgtccagcac	7	8	12	14	6	2	1	1	0	1	1	4	2	3	1	2	2	1	3	2	2	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:40440359G>A	ENST00000381793.2	-	3	948	c.552C>T	c.(550-552)taC>taT	p.Y184Y	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.Y184Y|RBM47_ENST00000381795.6_Silent_p.Y184Y|RBM47_ENST00000514014.1_Silent_p.Y146Y|RBM47_ENST00000295971.7_Silent_p.Y184Y			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	184	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGCGCTGGCGTAGACGATCA	0.647																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(550-552)taC>taT		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							64	57	59					4																	40440359		2202	4298	6500	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440359G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.552C>T	4.37:g.40440359G>A						RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y	p.Y184Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1262	-			184			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.552C>T	CCDS43223.1																																																																																				0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		A	40440359	G	A	40440359	2	1	63	1	0	0	0	0	0	0	0	1	13141	1140	40	1		1	RBM47	4	40440359	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		40440359	150713917	18	4159											
ALB	213	broad.mit.edu	37	chr4	74283995	74283995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgcagatatatgcacacTttctgagaaggagagacaaa	16	8	9	8	0	1	3	0	1	1	3	1	6	1	4	1	1	2	2	1	1	4	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:74283995T>A	ENST00000503124.1	+	10	1376	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H	ALB_ENST00000401494.3_Missense_Mutation_p.L425H|ALB_ENST00000509063.1_Missense_Mutation_p.L540H|ALB_ENST00000415165.2_Missense_Mutation_p.L348H|ALB_ENST00000295897.4_Missense_Mutation_p.L540H|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATATGCACACTTTCTGAGAAG	0.403																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1618-1620)cTt>cAt		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						111	109	109					4																	74283995		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283995T>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1169T>A	4.37:g.74283995T>A	ENSP00000421027:p.Leu390His					ALB_uc011cbe.2_Missense_Mutation_p.L219H|ALB_uc003hgw.4_Missense_Mutation_p.L348H|ALB_uc011cbf.2_Missense_Mutation_p.L430H	p.L540H	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1692	+	Breast(15;0.00102)		540			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1619T>A		.	.	.	.	.	.	.	.	.	.	T	18.11	3.549783	0.65311	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.94	5.94	0.96194	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.321794	0.26684	N	0.023021	D	0.82921	0.5142	M	0.83312	2.635	0.34978	D	0.75382	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.999	D;D;D;D;P	0.87578	0.998;0.931;0.949;0.986;0.899	D	0.88456	0.3052	10	0.87932	D	0	-17.7392	7.5154	0.27598	0.0:0.1511:0.0:0.8489	.	425;348;390;540;540	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	H	540;348;327;390;540;425;549	ENSP00000295897:L540H;ENSP00000401820:L348H;ENSP00000421027:L390H;ENSP00000422784:L540H;ENSP00000384695:L425H	ENSP00000295897:L540H	L	+	2	0	ALB	74502859	0.996000	0.38824	0.998000	0.56505	0.885000	0.51271	2.844000	0.48246	2.275000	0.75901	0.528000	0.53228	CTT		0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		A	74283995	T	A	74283995	3	1	63	1	0	0	0	0	1	0	0	0	486	1609	56	5	1665	5	ALB	4	74283995	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	33843636	74283995	116870281	19	4160											
PPEF2	5470	broad.mit.edu	37	chr4	76793227	76793227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttagcttgatactgcaCaatatgtggggtcagggctg	8	13	13	7	0	1	1	1	1	0	0	1	1	1	1	0	3	3	4	0	3	4	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:76793227C>T	ENST00000286719.7	-	13	1956	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	534	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATACTGCACAATATGTGGG	0.428																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1600-1602)Gtg>Atg		Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.							131	119	123					4																	76793227		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76793227C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1600G>A	4.37:g.76793227C>T	ENSP00000286719:p.Val534Met					PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M	p.V534M	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1957	-			534			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1600G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889577	0.33348	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.06294	3.32	4.47	2.74	0.32292	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.431442	0.24996	N	0.033945	T	0.08044	0.0201	M	0.62723	1.935	0.32491	N	0.540229	B;B	0.30851	0.13;0.297	B;B	0.31614	0.06;0.133	T	0.06215	-1.0839	10	0.34782	T	0.22	-0.007	8.9645	0.35867	0.0:0.8154:0.0:0.1846	.	534;534	O14830-2;O14830	.;PPE2_HUMAN	M	534	ENSP00000286719:V534M	ENSP00000286719:V534M	V	-	1	0	PPEF2	77012251	0.629000	0.27146	0.884000	0.34674	0.899000	0.52679	1.164000	0.31810	0.624000	0.30286	0.491000	0.48974	GTG		0.428	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		T	76793227	C	T	76793227	3	4	63	1	0	0	0	0	1	0	0	0	12308	478	17	3	681	3	PPEF2	4	76793227	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	2509232	76793227	114361049	20	4161											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596125	33596125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagctttcaccatcccGcggcccttctttatgcaatg	8	13	7	13	2	2	0	1	0	1	0	3	0	3	0	3	1	2	3	3	1	4	5	rs562347214		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:33596125G>A	ENST00000504830.1	-	17	2903	c.2568C>T	c.(2566-2568)cgC>cgT	p.R856R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.R771R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	856	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACCATCCCGCGGCCCTTCT	0.512										HNSCC(64;0.19)			G|||	1	0.000199681	0	0	5008	,	,		19488	0		0	False		,,,				2504	0.001					uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2566-2568)cgC>cgT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							172	152	158					5																	33596125		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596125G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2568C>T	5.37:g.33596125G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.R771R	p.R856R	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2731	-			856			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2568C>T	CCDS34140.1																																																																																				0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33596125	G	A	33596125	2	1	63	1	0	0	0	0	0	0	0	1	257	1074	38	1		1	ADAMTS12	5	33596125	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		33596125	147319135	21	4162											
PCDHA10	56139	broad.mit.edu	37	chr5	140237259	140237259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgatgggggcgtgccGcctctgggcagcaacttgac	5	6	17	13	5	1	1	0	1	1	0	1	2	1	1	2	3	3	2	2	3	1	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140237259G>A	ENST00000307360.5	+	1	1626	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGTGCCGCCTCTGGGCA	0.697																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1624-1626)ccG>ccA		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							51	55	54					5																	140237259		2196	4268	6464	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140237259G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1626G>A	5.37:g.140237259G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.P542P	p.P542P	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1626	+			557			Cadherin 5.		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1626G>A	CCDS54921.1																																																																																				0.697	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		A	140237259	G	A	140237259	2	1	63	1	0	0	0	0	0	0	0	1	11520	1074	38	1		1	PCDHA10	5	140237259	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	106641134	140237259	40678001	22	4163											
PCDHB5	26167	broad.mit.edu	37	chr5	140517047	140517052	+	In_Frame_Del	DEL	GGCCCA	GGCCCA	-																															ccgctgccggaggcggccccGgcccaggcccaggccgactc																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140517047_140517052delGGCCCA	ENST00000231134.5	+	1	2248_2253	c.2031_2036delGGCCCA	c.(2029-2037)ccggcccag>ccg	p.AQ680del		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	680					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCCCCGGCCCAGGCCCAGGCC	0.694																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2029-2037)ccggcccag>ccg		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.																																				SO:0001651	inframe_deletion	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517047_140517052delGGCCCA	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2031_2036delGGCCCA	5.37:g.140517053_140517058delGGCCCA	ENSP00000231134:p.Ala680_Gln681del						p.AQ680del	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2248_2253	+			680					Q549F4|Q9UFU9	In_Frame_Del	DEL	ENST00000231134.5	37	c.2031_2036delGGCCCA	CCDS4247.1																																																																																				0.694	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		-	140517052	GGCCCA	-	140517047	7	5	63	1	0	1	0	1	0	0	0	0	11545	1103	39	0	2033	0	PCDHB5	5	140517047	In_Frame_Del	DEL	GGCCCA	TCGA-06-0749-01A-01W-0348-08	279788	140517047	40398213	23	4164											
RIPK1	8737	broad.mit.edu	37	chr6	3104537	3104537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcagtaccttcaagcCggtcaaattcaggtaaatta	12	11	10	8	1	3	0	3	0	0	0	3	0	3	0	2	3	2	3	2	3	6	5	rs370418004		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:3104537C>T	ENST00000259808.4	+	8	1292	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.R286W|RIPK1_ENST00000380409.2_Missense_Mutation_p.R332W			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	332	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACCTTCAAGCCGGTCAAATTC	0.348																																						uc010jni.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(994-996)Cgg>Tgg		Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.		C	TRP/ARG	0,4406		0,0,2203	100	98	99		994	2.2	1	6		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIPK1	NM_003804.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	332/672	3104537	1,13005	2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3104537C>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.994C>T	6.37:g.3104537C>T	ENSP00000259808:p.Arg332Trp					RIPK1_uc003muv.4_Missense_Mutation_p.R169W|RIPK1_uc003mux.3_Missense_Mutation_p.R332W|RIPK1_uc011dhs.2_Missense_Mutation_p.R286W	p.R332W	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			7	1226	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	332			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.994C>T	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472042	0.43942	0.0	1.16E-4	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.78924	-1.22;-0.67;-1.22	4.75	2.22	0.28083	.	0.580338	0.17584	N	0.169002	T	0.79741	0.4498	M	0.65975	2.015	0.37734	D	0.925388	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.922	T	0.79647	-0.1716	10	0.66056	D	0.02	-27.2956	10.4826	0.44702	0.4955:0.5045:0.0:0.0	.	286;332	Q13546-2;Q13546	.;RIPK1_HUMAN	W	332;286;332	ENSP00000259808:R332W;ENSP00000442294:R286W;ENSP00000369773:R332W	ENSP00000259808:R332W	R	+	1	2	RIPK1	3049536	1.000000	0.71417	0.999000	0.59377	0.546000	0.35178	1.022000	0.30052	0.228000	0.21019	-0.265000	0.10407	CGG		0.348	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		T	3104537	C	T	3104537	3	4	63	1	0	0	0	0	1	0	0	0	13380	643	23	2	1020	2	RIPK1	6	3104537	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		3104537	168010530	24	4165											
OR2H1	26716	broad.mit.edu	37	chr6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacttaaccctctcGtatacaccctgaggaacaag	11	10	5	15	1	2	1	1	1	1	0	4	2	3	2	3	1	3	1	3	1	5	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29430405G>A	ENST00000377136.1	+	4	1324	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.V287I|OR2H1_ENST00000377133.1_Missense_Mutation_p.V287I|OR2H1_ENST00000377132.1_Missense_Mutation_p.V287I|OR2H1_ENST00000442615.1_Missense_Mutation_p.V287I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493																																						uc003nmi.3																			0				large_intestine(5)|lung(12)	17						c.(859-861)Gta>Ata		Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.							79	81	81					6																	29430405		1510	2708	4218	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430405G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.859G>A	6.37:g.29430405G>A	ENSP00000366340:p.Val287Ile					OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			2	1302	+			287					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.859G>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673561	0.03403	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	3.17	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	0.153166	0.30302	N	0.009934	T	0.01489	0.0048	N	0.01197	-0.965	0.24854	N	0.992386	B	0.09022	0.002	B	0.04013	0.001	T	0.46317	-0.9200	10	0.02654	T	1	.	7.3935	0.26923	0.7976:0.0:0.2024:0.0	.	287	Q9GZK4	OR2H1_HUMAN	I	287	ENSP00000366340:V287I;ENSP00000366337:V287I;ENSP00000393254:V287I;ENSP00000366336:V287I;ENSP00000380010:V287I	ENSP00000366336:V287I	V	+	1	0	OR2H1	29538384	0.998000	0.40836	0.767000	0.31495	0.747000	0.42532	3.997000	0.57016	0.149000	0.19098	-0.368000	0.07277	GTA		0.493	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			A	29430405	G	A	29430405	3	1	63	1	0	0	0	0	1	0	0	0	11001	1145	40	1	861	1	OR2H1	6	29430405	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	26325868	29430405	141684662	25	4166											
GABBR1	2550	broad.mit.edu	37	chr6	29599228	29599228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgttggccaggcacttgcgGaccttgggccccaccacctc	5	7	11	18	2	0	0	0	0	0	0	1	1	0	1	7	4	1	2	7	4	0	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29599228G>A	ENST00000377034.4	-	3	569	c.234C>T	c.(232-234)gtC>gtT	p.V78V	GABBR1_ENST00000377016.4_Silent_p.V78V|GABBR1_ENST00000376977.3_Silent_p.V78V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	78	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGCACTTGCGGACCTTGGGCC	0.602																																						uc003nmt.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(232-234)gtC>gtT		Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	Baclofen(DB00181)|Progabide(DB00837)						72	77	75					6																	29599228		2203	4300	6503	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599228G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.234C>T	6.37:g.29599228G>A						GABBR1_uc003nmu.4_Silent_p.V78V|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V	p.V78V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			2	570	-			78			Sushi 1.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.234C>T	CCDS4663.1																																																																																				0.602	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			A	29599228	G	A	29599228	2	1	63	1	0	0	0	0	0	0	0	1	6155	1161	41	3		3	GABBR1	6	29599228	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	168823	29599228	141515839	26	4167											
TNRC18	84629	broad.mit.edu	37	chr7	5417608	5417608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcagccgttcctcccGgtgtctggcccggtcgtcca	3	8	12	18	5	1	0	0	0	1	0	5	1	4	0	6	3	2	2	6	3	0	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:5417608G>A	ENST00000430969.1	-	6	2548	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	TNRC18_ENST00000399537.4_Missense_Mutation_p.R734W	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	734							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTTCCTCCCGGTGTCTGGCC	0.682																																						uc003soi.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(2200-2202)Cgg>Tgg		Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.							39	48	45					7																	5417608		2088	4202	6290	SO:0001583	missense	84629						DNA binding	g.chr7:5417608G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2200C>T	7.37:g.5417608G>A	ENSP00000395538:p.Arg734Trp						p.R734W	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	2549	-		Ovarian(82;0.142)	734					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.2200C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040009	0.19669	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.13778	2.56;2.56	4.38	3.33	0.38152	.	.	.	.	.	T	0.30386	0.0763	L	0.55481	1.735	0.30042	N	0.812553	D	0.89917	1.0	D	0.70016	0.967	T	0.04347	-1.0958	9	0.66056	D	0.02	.	12.264	0.54668	0.0:0.0:0.7162:0.2838	.	734	O15417	TNC18_HUMAN	W	734;734;136	ENSP00000382452:R734W;ENSP00000395538:R734W	ENSP00000382452:R734W	R	-	1	2	TNRC18	5384134	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	2.299000	0.43611	2.129000	0.65627	0.561000	0.74099	CGG		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5417608	G	A	5417608	3	1	63	1	0	0	0	0	1	0	0	0	16336	1115	39	2	6806	2	TNRC18	7	5417608	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		5417608	153721055	27	4168											
RAMP3	10268	broad.mit.edu	37	chr7	45216987	45216987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaggctttcgcagaCatgatgggcaaggtggacgt	9	9	17	6	2	0	2	0	1	0	1	1	4	0	4	0	5	0	3	0	5	2	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:45216987C>T	ENST00000242249.4	+	2	176	c.138C>T	c.(136-138)gaC>gaT	p.D46D	RAMP3_ENST00000481345.1_Silent_p.D46D|RAMP3_ENST00000496212.1_Silent_p.D46D	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	46					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTTTCGCAGACATGATGGGCA	0.607																																						uc003tnb.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(136-138)gaC>gaT		Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	Pramlintide(DB01278)						254	180	205					7																	45216987		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45216987C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.138C>T	7.37:g.45216987C>T							p.D46D	NM_005856	NP_005847	O60896	RAMP3_HUMAN			1	199	+			46					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.138C>T	CCDS5503.1																																																																																				0.607	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		T	45216987	C	T	45216987	2	4	63	1	0	0	0	0	0	0	0	1	13023	477	17	3		3	RAMP3	7	45216987	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	39799379	45216987	113921676	28	4169											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179	143	155					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221821	G	A	55221821	3	1	63	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	10004834	55221821	103916842	29	4170											
EGFR	1956	broad.mit.edu	37	chr7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtggacaacccccacGtgtgccgcctgctgggcatc	6	6	12	17	3	0	0	0	0	0	0	1	1	0	1	5	2	4	2	5	2	1	0	rs567477136|rs397517114		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR_ENST00000454757.2_Missense_Mutation_p.V721M|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAACCCCCACGTGTGCCGCCT	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		16	Insertion - In frame(11)|Substitution - Missense(5)	p.H773_V774insNPH(21)|p.P772_H773insPR(11)|p.V774M(9)|p.H773R(9)|p.H773_V774insH(5)|p.H773_V774insPH(4)|p.V774_C775insHV(4)|p.H773_V774insQ(2)|p.P772_H773insYNP(2)|p.H773_V774insGNPH(2)|p.P772_H773insX(2)|p.H773L(2)|p.V774L(2)|p.H773Y(2)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.P772_H773insV(1)|p.V774del(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.H773_V774>LM(1)	lung(16)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2320-2322)Gtg>Atg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105	95	98					7																	55249022		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249022G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2320G>A	7.37:g.55249022G>A	ENSP00000275493:p.Val774Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.V774M|EGFR_uc010kzg.2_Missense_Mutation_p.V729M|EGFR_uc022adn.1_Missense_Mutation_p.V729M|EGFR_uc011kco.2_Missense_Mutation_p.V721M|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.V9M	p.V774M	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2566	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		774			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2320G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545244	0.86022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68025	-0.3;-0.3;-0.3	5.85	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	H	0.96662	3.86	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.968;0.997	D	0.91251	0.5029	10	0.87932	D	0	.	13.8489	0.63485	0.0742:0.0:0.9258:0.0	.	729;774	Q504U8;P00533	.;EGFR_HUMAN	M	729;644;774;721	ENSP00000415559:V729M;ENSP00000275493:V774M;ENSP00000395243:V721M	ENSP00000275493:V774M	V	+	1	0	EGFR	55216516	1.000000	0.71417	0.921000	0.36526	0.987000	0.75469	7.838000	0.86804	1.472000	0.48140	0.655000	0.94253	GTG		0.632	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55249022	G	A	55249022	3	1	63	1	0	0	0	0	1	0	0	0	4967	1145	40	1	2662	1	EGFR	7	55249022	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	27201	55249022	103889641	30	4171											
PCLO	27445	broad.mit.edu	37	chr7	82582186	82582186	+	Frame_Shift_Del	DEL	A	A	-																															ctctggaggaattgttatggAaatgctgctgagaccaacac																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:82582186delA	ENST00000333891.9	-	5	8420	c.8083delT	c.(8083-8085)tccfs	p.S2695fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.S2695fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTGTTATGGAAATGCTGCTG	0.413																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8083-8085)tccfs		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							68	66	67					7																	82582186		1876	4104	5980	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582186delA	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8083delT	7.37:g.82582186delA	ENSP00000334319:p.Ser2695fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.3_5'Flank	p.S2695fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	8372	-			2626						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.8083delT	CCDS47630.1																																																																																				0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82582186	A	-	82582186	7	5	63	1	0	1	0	1	0	0	0	0	11583	246	9	0	7446	0	PCLO	7	82582186	Frame_Shift_Del	DEL	A	TCGA-06-0749-01A-01W-0348-08	27333164	82582186	76556477	31	4172											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97935824	97935824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacgacgacgggaaccaacCcctcctaccggcaaagaggg	12	3	12	14	4	0	1	0	0	0	1	1	4	1	2	5	3	4	2	5	3	5	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:97935824C>G	ENST00000005260.8	-	11	1383	c.1168G>C	c.(1168-1170)Ggt>Cgt	p.G390R	RP4-607J23.2_ENST00000609873.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	390	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGAACCAACCCCTCCTACCG	0.572																																						uc003upj.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1168-1170)Ggt>Cgt		Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.							144	116	126					7																	97935824		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97935824C>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1168G>C	7.37:g.97935824C>G	ENSP00000005260:p.Gly390Arg					hCG_2023280_uc003upk.1_5'Flank	p.G390R	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	1431	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		390			SH3.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1168G>C	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395107	0.83011	.	.	ENSG00000006453	ENST00000005260	T	0.72942	-0.7	5.28	5.28	0.74379	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94860	0.8021	10	0.87932	D	0	-21.1559	16.7557	0.85498	0.0:1.0:0.0:0.0	.	390	Q9UHR4	BI2L1_HUMAN	R	390	ENSP00000005260:G390R	ENSP00000005260:G390R	G	-	1	0	AC093799.1	97773760	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	5.937000	0.70162	2.650000	0.89964	0.591000	0.81541	GGT		0.572	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		G	97935824	C	G	97935824	3	3	63	1	0	0	0	0	1	0	0	0	1302	623	22	5	383	5	BAIAP2L1	7	97935824	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	15353638	97935824	61202839	32	4173											
MCM7	4176	broad.mit.edu	37	chr7	99694927	99694927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcccaactacttactgcGaggcgccagtcgatcaatgt	12	8	9	12	3	1	0	1	0	0	0	2	2	1	0	2	1	5	0	2	1	5	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:99694927G>A	ENST00000303887.5	-	10	1843	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MCM7_ENST00000354230.3_Missense_Mutation_p.R224C|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	400	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R400C(1)|p.R224C(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACTTACTGCGAGGCGCCAGT	0.512																																						uc003usw.1																			2	Substitution - Missense(2)	p.R400C(1)|p.R224C(1)	lung(2)	endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1198-1200)Cgc>Tgc		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						89	76	81					7																	99694927		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99694927G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1198C>T	7.37:g.99694927G>A	ENSP00000307288:p.Arg400Cys					MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	p.R400C	NM_005916	NP_005907	P33993	MCM7_HUMAN			9	1708	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		400			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1198C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167627	0.57476	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12465	2.68;2.68	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77848	-0.2435	10	0.87932	D	0	.	15.7858	0.78300	0.0:0.0:1.0:0.0	.	400	P33993	MCM7_HUMAN	C	400;337;293;224	ENSP00000307288:R400C;ENSP00000346171:R224C	ENSP00000307288:R400C	R	-	1	0	MCM7	99532863	1.000000	0.71417	0.999000	0.59377	0.257000	0.26127	4.020000	0.57189	2.576000	0.86940	0.655000	0.94253	CGC		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			A	99694927	G	A	99694927	3	1	63	1	0	0	0	0	1	0	0	0	9392	1058	37	2	985	2	MCM7	7	99694927	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	1759103	99694927	59443736	33	4174											
ASZ1	136991	broad.mit.edu	37	chr7	117020042	117020042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccaaattgtatctcttcTacctgtagttctttaagagc	9	17	5	10	0	4	1	0	0	4	1	6	1	4	1	2	0	2	3	2	0	5	8			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:117020042T>C	ENST00000284629.2	-	10	1067	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GTATCTCTTCTACCTGTAGTT	0.308																																						uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(1003-1005)gtA>gtG		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							76	80	79					7																	117020042		2202	4291	6493	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117020042T>C	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1005A>G	7.37:g.117020042T>C						ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V	p.V335V	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		9	1068	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		335						Silent	SNP	ENST00000284629.2	37	c.1005A>G	CCDS5772.1																																																																																				0.308	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		C	117020042	T	C	117020042	2	2	63	1	0	0	0	0	0	0	0	1	1069	1509	53	4		4	ASZ1	7	117020042	Silent	SNP	T	TCGA-06-0749-01A-01W-0348-08	17325115	117020042	42118621	34	4175											
HIPK2	28996	broad.mit.edu	37	chr7	139416214	139416214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacttgcccaaacgtccctCggcccaagaactctaagacc	11	6	6	18	2	1	2	0	0	1	2	3	2	2	2	5	1	3	0	5	1	4	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:139416214C>T	ENST00000406875.3	-	2	714	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.R207Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.R207Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	207	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAACGTCCCTCGGCCCAAGAA	0.552																																						uc003vvf.4																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(619-621)cGa>cAa		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							77	69	71					7																	139416214		1568	3582	5150	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416214C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.620G>A	7.37:g.139416214C>T	ENSP00000385571:p.Arg207Gln					HIPK2_uc003vvd.4_Missense_Mutation_p.R207Q	p.R207Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			1	891	-	Melanoma(164;0.205)		207			Interaction with DAXX.|Protein kinase.|Transcriptional corepression (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	C	16.72	3.202443	0.58234	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.65178	-0.14;-0.14;-0.14	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78207	0.4247	.	.	.	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;P	0.80764	0.994;0.836	T	0.75969	-0.3130	8	0.31617	T	0.26	.	18.6737	0.91521	0.0:1.0:0.0:0.0	.	207;207	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	207	ENSP00000385571:R207Q;ENSP00000413724:R207Q;ENSP00000343108:R207Q	ENSP00000343108:R207Q	R	-	2	0	HIPK2	139062700	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.818000	0.86416	2.394000	0.81467	0.591000	0.81541	CGA		0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		T	139416214	C	T	139416214	3	4	63	1	0	0	0	0	1	0	0	0	7117	884	31	2	3032	2	HIPK2	7	139416214	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	22396172	139416214	19722449	35	4176											
CLCN1	1180	broad.mit.edu	37	chr7	143048733	143048733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtctggggtgcagctccGccctccccttgccagcttcc	4	9	10	18	1	1	0	0	0	1	0	4	0	4	0	6	2	4	3	6	2	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:143048733G>A	ENST00000343257.2	+	23	2729	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	881					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGCAGCTCCGCCCTCCCCTT	0.537																																						uc003wcr.1																			0		p.L880L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2641-2643)cGc>cAc		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							39	37	38					7																	143048733		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048733G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2642G>A	7.37:g.143048733G>A	ENSP00000339867:p.Arg881His					CLCN1_uc011ktc.1_Missense_Mutation_p.R493H	p.R881H	NM_000083	NP_000074	P35523	CLCN1_HUMAN			22	2729	+	Melanoma(164;0.205)		881					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2642G>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750118	0.89753	.	.	ENSG00000188037	ENST00000343257	D	0.87412	-2.25	4.52	4.52	0.55395	.	0.183165	0.48767	D	0.000170	D	0.92485	0.7614	M	0.72894	2.215	0.48185	D	0.999602	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.964	D	0.93016	0.6436	10	0.56958	D	0.05	.	15.7691	0.78149	0.0:0.0:1.0:0.0	.	80;881	Q75L28;P35523	.;CLCN1_HUMAN	H	881	ENSP00000339867:R881H	ENSP00000339867:R881H	R	+	2	0	CLCN1	142758855	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.747000	0.68689	2.237000	0.73441	0.462000	0.41574	CGC		0.537	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		A	143048733	G	A	143048733	3	1	63	1	0	0	0	0	1	0	0	0	3462	1087	38	1	2732	1	CLCN1	7	143048733	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	3632519	143048733	16089930	36	4177											
KCNB2	9312	broad.mit.edu	37	chr8	73848914	73848914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagggaggctcttgagCgggccaaaaggaacggaagc	14	3	17	7	2	1	1	0	1	1	0	1	5	1	5	1	6	3	1	1	6	5	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:73848914C>T	ENST00000523207.1	+	3	1912	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	442					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGCTCTTGAGCGGGCCAAAAG	0.443																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1324-1326)Cgg>Tgg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							68	72	71					8																	73848914		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848914C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1324C>T	8.37:g.73848914C>T	ENSP00000430846:p.Arg442Trp						p.R442W	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1912	+	Breast(64;0.137)		442					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1324C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710773	0.48517	.	.	ENSG00000182674	ENST00000523207	D	0.97688	-4.49	5.61	3.74	0.42951	.	0.000000	0.41823	D	0.000818	D	0.98229	0.9414	M	0.66939	2.045	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	D	0.98380	1.0558	10	0.87932	D	0	.	13.4524	0.61178	0.425:0.575:0.0:0.0	.	442	Q92953	KCNB2_HUMAN	W	442	ENSP00000430846:R442W	ENSP00000430846:R442W	R	+	1	2	KCNB2	74011468	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.593000	0.23999	0.659000	0.30945	-0.311000	0.09066	CGG		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73848914	C	T	73848914	3	4	63	1	0	0	0	0	1	0	0	0	8013	759	27	1	1330	1	KCNB2	8	73848914	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		73848914	72515108	37	4178											
KIFC2	90990	broad.mit.edu	37	chr8	145693119	145693119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctgaagcagcagcTggaacagcaggaggaggagt	13	3	19	6	0	0	1	0	1	0	0	0	7	0	7	0	6	6	5	0	6	2	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:145693119T>C	ENST00000301332.2	+	6	1015	c.638T>C	c.(637-639)cTg>cCg	p.L213P	CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|KIFC2_ENST00000301331.5_5'UTR|CYHR1_ENST00000403000.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000306145.5_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	213	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AAGCAGCAGCTGGAACAGCAG	0.642											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(637-639)cTg>cCg		Homo sapiens kinesin family member C2 (KIFC2), mRNA.							45	48	47					8																	145693119		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693119T>C	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.638T>C	8.37:g.145693119T>C	ENSP00000301332:p.Leu213Pro		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.L213P	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		5	703	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		213			Gln-rich.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.638T>C	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992624	0.74703	.	.	ENSG00000167702	ENST00000301332	T	0.42131	0.98	4.8	3.66	0.41972	.	0.000000	0.27901	N	0.017399	T	0.29749	0.0743	L	0.34521	1.04	0.80722	D	1	B	0.29627	0.252	B	0.26614	0.071	T	0.11767	-1.0574	10	0.72032	D	0.01	-13.7043	8.2279	0.31579	0.0:0.0955:0.0:0.9045	.	213	Q96AC6	KIFC2_HUMAN	P	213	ENSP00000301332:L213P	ENSP00000301332:L213P	L	+	2	0	KIFC2	145663927	0.002000	0.14202	0.638000	0.29380	0.787000	0.44495	1.345000	0.33953	0.878000	0.35920	0.533000	0.62120	CTG		0.642	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		C	145693119	T	C	145693119	3	2	63	1	0	0	0	0	1	0	0	0	8313	1580	55	4	660	4	KIFC2	8	145693119	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	71844205	145693119	670903	38	4179											
BNC2	54796	broad.mit.edu	37	chr9	16419304	16419304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccactgtcactcgcccCgtcaatgtcatcgagaagaa	10	8	7	16	3	3	2	3	0	0	2	6	3	4	2	4	0	0	0	4	0	3	0	rs143124811	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:16419304C>T	ENST00000380672.4	-	7	3040	c.2983G>A	c.(2983-2985)Ggg>Agg	p.G995R	BNC2_ENST00000545497.1_Missense_Mutation_p.G900R|BNC2_ENST00000380667.2_Missense_Mutation_p.G928R	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCACTCGCCCCGTCAATGTCA	0.592																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2983-2985)Ggg>Agg		Homo sapiens basonuclin 2 (BNC2), mRNA.		C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	84	80	82		2983	6.1	0.8	9	dbSNP_134	82	0,8600		0,0,4300	no	missense	BNC2	NM_017637.5	125	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	995/1100	16419304	3,13003	2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419304C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2983G>A	9.37:g.16419304C>T	ENSP00000370047:p.Gly995Arg					BNC2_uc011lmw.2_Missense_Mutation_p.G900R|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G782R	p.G995R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	3123	-			995						Missense_Mutation	SNP	ENST00000380672.4	37	c.2983G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154852	0.57259	6.81E-4	0.0	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.30182	1.54;1.55;1.55	6.08	6.08	0.98989	.	0.152356	0.64402	D	0.000017	T	0.47783	0.1464	L	0.55481	1.735	0.80722	D	1	D;D;D	0.69078	0.989;0.982;0.997	P;P;P	0.56514	0.8;0.636;0.67	T	0.08391	-1.0724	10	0.33940	T	0.23	-18.0841	20.6721	0.99693	0.0:1.0:0.0:0.0	.	900;995;760	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	R	995;928;900	ENSP00000370047:G995R;ENSP00000370042:G928R;ENSP00000444640:G900R	ENSP00000370042:G928R	G	-	1	0	BNC2	16409304	1.000000	0.71417	0.838000	0.33150	0.420000	0.31355	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGG		0.592	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16419304	C	T	16419304	3	4	63	1	0	0	0	0	1	0	0	0	1475	652	23	2	320	2	BNC2	9	16419304	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		16419304	124794127	39	4180											
TAF1L	138474	broad.mit.edu	37	chr9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggttccgcttaagccGcctcagttgctcttgaatcc	5	14	8	14	2	2	1	1	1	1	0	5	1	5	1	5	1	2	4	5	1	2	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:32631824G>A	ENST00000242310.4	-	1	3843	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1252W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGCTTAAGCCGCCTCAGTTGC	0.448																																						uc003zrg.1																			1	Substitution - Missense(1)	p.R1252W(2)	breast(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3754-3756)Cgg>Tgg		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							92	90	91					9																	32631824		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631824G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3754C>T	9.37:g.32631824G>A	ENSP00000418379:p.Arg1252Trp					AX747113_uc003zrh.1_5'Flank	p.R1252W	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	3844	-			1252					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3754C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809308	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.66099	-0.19	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.54323	1.7	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.65837	-0.6071	10	0.87932	D	0	.	4.2195	0.10551	0.0:0.0:0.605:0.395	.	1252	Q8IZX4	TAF1L_HUMAN	W	1252	ENSP00000418379:R1252W	ENSP00000418379:R1252W	R	-	1	2	TAF1L	32621824	0.996000	0.38824	0.995000	0.50966	0.426000	0.31534	0.577000	0.23758	0.507000	0.28148	0.195000	0.17529	CGG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32631824	G	A	32631824	3	1	63	1	0	0	0	0	1	0	0	0	15520	1086	38	1	1730	1	TAF1L	9	32631824	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	16212520	32631824	108581607	40	4181											
PTEN	5728	broad.mit.edu	37	chr10	89720738	89720738	+	Frame_Shift_Del	DEL	G	G	-																															tagaaaatggaagtctatgtGatcaagaaatcgatagcatt																								rs267602610|rs370064195		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr10:89720738delG	ENST00000371953.3	+	8	2246	c.889delG	c.(889-891)gatfs	p.D297fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	297	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGTCTATGTGATCAAGAAAT	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.C296fs*1(1)|p.G165_*404del(1)|p.C296fs*11(1)|p.G165_K342del(1)|p.C296*(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(889-891)gatfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							87	87	87					10																	89720738		2203	4299	6502	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720738delG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.889delG	10.37:g.89720738delG	ENSP00000361021:p.Asp297fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D297fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1921	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	297			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.889delG	CCDS31238.1																																																																																				0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720738	G	-	89720738	7	5	63	1	0	1	0	1	0	0	0	0	12738	1290	45	0	919	0	PTEN	10	89720738	Frame_Shift_Del	DEL	G	TCGA-06-0749-01A-01W-0348-08		89720738	45814009	41	4182											
OR8K3	219473	broad.mit.edu	37	chr11	56086620	56086620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccatattttacaccctgGttatccccatgttgaatccc	8	15	4	14	0	0	1	0	1	0	0	3	1	3	1	5	1	1	2	5	1	4	6			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:56086620G>T	ENST00000312711.1	+	1	838	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACACCCTGGTTATCCCCAT	0.378																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(838-840)Gtt>Ttt		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							84	74	77					11																	56086620		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086620G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.838G>T	11.37:g.56086620G>T	ENSP00000323555:p.Val280Phe						p.V280F	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	838	+	Esophageal squamous(21;0.00448)		280					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.838G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	9.843	1.191489	0.21954	.	.	ENSG00000181689	ENST00000312711	T	0.00281	8.32	4.18	-2.38	0.06622	GPCR, rhodopsin-like superfamily (1);	0.123718	0.36234	N	0.002715	T	0.00440	0.0014	M	0.78456	2.415	0.09310	N	1	D	0.59767	0.986	D	0.69824	0.966	T	0.48080	-0.9066	10	0.87932	D	0	.	5.109	0.14800	0.5299:0.0:0.3247:0.1453	.	280	Q8NH51	OR8K3_HUMAN	F	280	ENSP00000323555:V280F	ENSP00000323555:V280F	V	+	1	0	OR8K3	55843196	0.979000	0.34478	0.001000	0.08648	0.006000	0.05464	0.923000	0.28757	-0.593000	0.05844	0.471000	0.43371	GTT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		T	56086620	G	T	56086620	3	4	63	1	0	0	0	0	1	0	0	0	11244	1261	44	5	840	5	OR8K3	11	56086620	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		56086620	78919896	42	4183											
OR10W1	81341	broad.mit.edu	37	chr11	58034677	58034677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagcagccgagtggatCttgagcagagcagccactat	10	6	13	12	2	1	2	0	1	1	1	1	4	1	3	3	2	5	3	3	2	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:58034677C>A	ENST00000395079.2	-	1	1055	c.654G>T	c.(652-654)aaG>aaT	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572																																						uc001nmq.1																			2	Substitution - Missense(2)	p.K218N(4)	lung(2)	kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(652-654)aaG>aaT		Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.							85	81	82					11																	58034677		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034677C>A	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.654G>T	11.37:g.58034677C>A	ENSP00000378516:p.Lys218Asn						p.K218N	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			0	1056	-		Breast(21;0.0589)	218					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.654G>T	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107379	0.20714	.	.	ENSG00000172772	ENST00000395079	T	0.00183	8.6	5.65	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.615343	0.14839	N	0.295401	T	0.00241	0.0007	M	0.72576	2.205	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.34329	-0.9833	10	0.66056	D	0.02	.	8.3552	0.32327	0.0:0.566:0.2812:0.1528	.	218	Q8NGF6	O10W1_HUMAN	N	218	ENSP00000378516:K218N	ENSP00000378516:K218N	K	-	3	2	OR10W1	57791253	0.000000	0.05858	0.050000	0.19076	0.409000	0.31022	-0.740000	0.04861	0.685000	0.31468	0.655000	0.94253	AAG		0.572	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		A	58034677	C	A	58034677	3	1	63	1	0	0	0	0	1	0	0	0	10921	912	32	5	267	5	OR10W1	11	58034677	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	1948057	58034677	76971839	43	4184											
OR4D5	219875	broad.mit.edu	37	chr11	123811000	123811000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcactgctagtcatgctccGaagccactcacgggagggcc	9	6	12	14	2	2	0	2	0	0	0	3	2	3	1	3	2	4	3	3	2	2	1	rs142766960	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:123811000G>A	ENST00000307033.2	+	1	751	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCATGCTCCGAAGCCACTCA	0.507																																						uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(676-678)cGa>cAa		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.							217	195	203					11																	123811000		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811000G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.677G>A	11.37:g.123811000G>A	ENSP00000305970:p.Arg226Gln						p.R226Q	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	677	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	226					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.677G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584518	0.28268	.	.	ENSG00000171014	ENST00000307033	T	0.00231	8.49	5.49	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001138	T	0.00210	0.0006	M	0.62209	1.925	0.09310	N	0.999998	B	0.33212	0.402	B	0.35278	0.199	T	0.26292	-1.0107	10	0.56958	D	0.05	-1.0E-4	7.9556	0.30040	0.3817:0.0:0.6183:0.0	.	226	Q8NGN0	OR4D5_HUMAN	Q	226	ENSP00000305970:R226Q	ENSP00000305970:R226Q	R	+	2	0	OR4D5	123316210	0.000000	0.05858	0.999000	0.59377	0.491000	0.33493	-0.272000	0.08560	0.695000	0.31675	-0.145000	0.13849	CGA		0.507	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		A	123811000	G	A	123811000	3	1	63	1	0	0	0	0	1	0	0	0	11057	1058	37	2	679	2	OR4D5	11	123811000	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	65776323	123811000	11195516	44	4185											
LRIG3	121227	broad.mit.edu	37	chr12	59272793	59272793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttctgccaggctatctgGggggctgggtgccccacagc	4	9	14	14	0	2	0	0	0	2	0	3	0	3	0	4	5	3	2	4	5	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:59272793G>T	ENST00000320743.3	-	14	2182	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	LRIG3_ENST00000379141.4_Silent_p.P572P	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	632	Ig-like C2-type 2.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGCTATCTGGGGGGCTGGGT	0.597			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)ccC>ccA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.							60	50	53					12																	59272793		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59272793G>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1896C>A	12.37:g.59272793G>T						LRIG3_uc009zqh.3_Silent_p.P572P|LRIG3_uc010ssh.2_Non-coding_Transcript	p.P632P	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	2142	-			632			Ig-like C2-type 2.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1896C>A	CCDS8960.1																																																																																				0.597	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		T	59272793	G	T	59272793	2	4	63	1	0	0	0	0	0	0	0	1	8946	1219	43	5		5	LRIG3	12	59272793	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		59272793	74579102	45	4186											
NAV3	89795	broad.mit.edu	37	chr12	78582438	78582438	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccttggtctgagctctgActgcattgctagctactgta	7	14	10	10	0	2	2	0	2	2	0	2	2	2	2	1	1	6	5	1	1	4	6			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:78582438A>C	ENST00000397909.2	+	33	6109	c.5936A>C	c.(5935-5937)gAc>gCc	p.D1979A	NAV3_ENST00000228327.6_Missense_Mutation_p.D1957A|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.D1957A|NAV3_ENST00000266692.7_Missense_Mutation_p.D1780A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1979						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGAGCTCTGACTGCATTGCT	0.388										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5935-5937)gAc>gCc		Homo sapiens neuron navigator 3 (NAV3), mRNA.							129	123	125					12																	78582438		1914	4141	6055	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582438A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5936A>C	12.37:g.78582438A>C	ENSP00000381007:p.Asp1979Ala	HNSCC(70;0.22)				NAV3_uc001syo.3_Missense_Mutation_p.D1957A|NAV3_uc010sub.2_Missense_Mutation_p.D1436A|NAV3_uc009zsf.3_Missense_Mutation_p.D788A	p.D1979A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			32	6109	+			1979					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5936A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.766077|4.766077	0.90020|0.90020	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29142|.	1.63;1.61;1.63;1.58;2.46|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.42294|.	U|.	0.000729|.	T|.	0.72637|.	0.3485|.	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.996;0.998;0.998|.	T|.	0.71331|.	-0.4625|.	10|.	0.87932|.	D|.	0|.	-16.8148|-16.8148	16.4288|16.4288	0.83833|0.83833	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1957;1780;1979;1957|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	A|C	1957;1979;1957;1780;571;579|851	ENSP00000446132:D1957A;ENSP00000381007:D1979A;ENSP00000228327:D1957A;ENSP00000266692:D1780A;ENSP00000448303:D579A|.	ENSP00000228327:D1957A|.	D|X	+|+	2|3	0|0	NAV3|NAV3	77106569|77106569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.262000|9.262000	0.95591|0.95591	2.282000|2.282000	0.76494|0.76494	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		C	78582438	A	C	78582438	3	2	63	1	0	0	0	0	1	0	0	0	10185	275	10	5	5996	5	NAV3	12	78582438	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08	19309645	78582438	55269457	46	4187											
PLEKHG7	440107	broad.mit.edu	37	chr12	93148040	93148040	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtggaaaagtccatcCgtaagtccctgagataagtg	15	8	11	7	1	0	1	0	1	0	1	3	3	3	2	3	2	0	1	3	2	6	2	rs115752910		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:93148040C>T	ENST00000344636.3	+	6	674	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	164	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAGTCCATCCGTAAGTCCCT	0.438													C|||	1	0.000199681	0	0	5008	,	,		23839	0.001		0	False		,,,				2504	0					uc001tcj.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.e6+1		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.							77	70	72					12																	93148040		2203	4300	6503	SO:0001630	splice_region_variant	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93148040C>T	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.490+1C>T	12.37:g.93148040C>T							p.R164_splice	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			6	720	+			164			DH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.490_splice	CCDS31873.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.84	2.059765	0.36373	.	.	ENSG00000187510	ENST00000344636	T	0.69175	-0.38	5.4	-1.32	0.09201	Dbl homology (DH) domain (3);	0.259409	0.42053	D	0.000762	T	0.45397	0.1340	L	0.42245	1.32	0.26651	N	0.972109	B	0.33964	0.434	B	0.28305	0.088	T	0.30534	-0.9975	10	0.45353	T	0.12	-23.4536	1.6979	0.02866	0.2178:0.4311:0.0998:0.2512	.	164	Q6ZR37	PKHG7_HUMAN	W	164	ENSP00000344961:R164W	ENSP00000344961:R164W	R	+	1	2	PLEKHG7	91672171	0.381000	0.25140	0.124000	0.21820	0.875000	0.50365	-0.012000	0.12699	-0.268000	0.09312	0.491000	0.48974	CGG		0.438	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330	Missense_Mutation	T	93148040	C	T	93148040	5	4	63	1	0	0	0	0	0	0	1	0	12075	666	23	2	508	2	PLEKHG7	12	93148040	Splice_Site	SNP	C	TCGA-06-0749-01A-01W-0348-08	14565602	93148040	40703855	47	4188											
STAB2	55576	broad.mit.edu	37	chr12	104014256	104014256	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccctagagtgcccaggTggagcggggtcaccctgcaa	8	7	14	12	1	1	1	1	0	0	1	2	3	2	2	3	4	3	1	3	4	2	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:104014256T>G	ENST00000388887.2	+	4	546	c.342T>G	c.(340-342)ggT>ggG	p.G114G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTGCCCAGGTGGAGCGGGGT	0.493																																						uc001tjw.3																			0		p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(340-342)ggT>ggG		Homo sapiens stabilin 2 (STAB2), mRNA.							90	76	81					12																	104014256		2202	4297	6499	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104014256T>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.342T>G	12.37:g.104014256T>G							p.G114G	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			3	528	+			114			EGF-like 1.			Silent	SNP	ENST00000388887.2	37	c.342T>G	CCDS31888.1																																																																																				0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			G	104014256	T	G	104014256	2	3	63	1	0	0	0	0	0	0	0	1	15237	1683	59	5		5	STAB2	12	104014256	Silent	SNP	T	TCGA-06-0749-01A-01W-0348-08	10866216	104014256	29837639	48	4189											
GPR133	283383	broad.mit.edu	37	chr12	131622720	131622720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaaccaaggtctggtcGctcacgagcagctctgcccg	10	6	10	15	3	3	0	1	0	2	0	4	1	3	0	2	2	4	3	2	2	3	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:131622720G>A	ENST00000261654.5	+	24	3034	c.2475G>A	c.(2473-2475)tcG>tcA	p.S825S	GPR133_ENST00000543617.1_Silent_p.S344S|GPR133_ENST00000535015.1_Silent_p.S857S|GPR133_ENST00000376682.4_Silent_p.S511S|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	825					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGTCTGGTCGCTCACGAGCA	0.597																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2569-2571)tcG>tcA		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							93	74	81					12																	131622720		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622720G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2475G>A	12.37:g.131622720G>A						GPR133_uc001uit.4_Silent_p.S825S|GPR133_uc009zyo.3_Silent_p.S107S|GPR133_uc009zyp.3_Non-coding_Transcript	p.S857S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3130	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		825					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2571G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079603	0.20309	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.63	3.74	0.42951	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53486	-0.8432	4	.	.	.	.	7.9051	0.29757	0.1818:0.6385:0.1798:0.0	.	.	.	.	H	179	.	.	R	+	2	0	GPR133	130188673	0.998000	0.40836	0.998000	0.56505	0.934000	0.57294	0.374000	0.20501	0.932000	0.37266	-0.234000	0.12200	CGC		0.597	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131622720	G	A	131622720	2	1	63	1	0	0	0	0	0	0	0	1	6643	1074	38	1		1	GPR133	12	131622720	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	27608464	131622720	2229175	49	4190											
BIVM	54841	broad.mit.edu	37	chr13	103474461	103474462	+	Frame_Shift_Ins	INS	-	-	A																															ccatgtaaaaggatgctcttINSatgttctatataagcctcat																								rs375743756		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr13:103474461_103474462insA	ENST00000257336.1	+	7	1532_1533	c.853_854insA	c.(853-855)tatfs	p.Y285fs	RNY5P8_ENST00000410369.1_RNA|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.C257fs|BIVM_ENST00000419638.1_Frame_Shift_Ins_p.Y285fs|BIVM_ENST00000448849.2_Frame_Shift_Ins_p.Y56fs	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	285						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGATGCTCTTATGTTCTATAT	0.361																																						uc001vpu.2																			0											c.(853-855)tatfs		Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.																																				SO:0001589	frameshift_variant	2073				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103474461_103474462insA	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.854dupA	13.37:g.103474462_103474462dupA	ENSP00000257336:p.Tyr285fs					BIVM-ERCC5_uc001vps.3_Frame_Shift_Ins_p.Y285fs|BIVM-ERCC5_uc010agc.3_Frame_Shift_Ins_p.Y56fs|BIVM-ERCC5_uc001vpv.3_Frame_Shift_Ins_p.Y56fs	p.Y285fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN			4	975_976	+			256					Q2M1J2|Q9NXM4	Frame_Shift_Ins	INS	ENST00000257336.1	37	c.853_854insA	CCDS9505.1																																																																																				0.361	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			A	103474462	-	A	103474461	7	5	63	1	0	1	1	0	0	0	0	0	1441	1754	61	0	871	0	BIVM	13	103474461	Frame_Shift_Ins	INS	-	TCGA-06-0749-01A-01W-0348-08		103474461	11695417	50	4191											
FUT8	2530	broad.mit.edu	37	chr14	66028372	66028372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atataggtggtcacttggtaCgagataatgaccatcctgat	12	12	10	7	1	1	3	1	2	0	1	2	4	2	3	2	3	1	1	2	3	4	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:66028372C>T	ENST00000360689.5	+	3	1818	c.91C>T	c.(91-93)Cga>Tga	p.R31*	FUT8_ENST00000394585.1_Nonsense_Mutation_p.R31*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R31*|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000358307.2_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	31					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCACTTGGTACGAGATAATGA	0.458																																						uc001xin.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(91-93)Cga>Tga		Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.							150	145	147					14																	66028372		2203	4300	6503	SO:0001587	stop_gained	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028372C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.91C>T	14.37:g.66028372C>T	ENSP00000353910:p.Arg31*					FUT8_uc001xio.3_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.3_Intron	p.R31*	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	2	1818	+			31					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	ENST00000360689.5	37	c.91C>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	40	8.196759	0.98701	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000555559;ENST00000394585;ENST00000557338;ENST00000554610;ENST00000554667	.	.	.	5.85	5.85	0.93711	.	0.120497	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-2.6346	17.6515	0.88165	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000345865:R31X	R	+	1	2	FUT8	65098125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.686000	0.46968	2.767000	0.95098	0.655000	0.94253	CGA		0.458	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		T	66028372	C	T	66028372	4	4	63	1	0	0	0	0	0	1	0	0	6110	528	19	1	93	1	FUT8	14	66028372	Nonsense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		66028372	41321168	51	4192											
AK7	122481	broad.mit.edu	37	chr14	96917806	96917806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttaagaatggaagcgctcTttgtgaaggagaattttaat	14	13	10	4	1	1	3	0	1	1	2	1	5	1	4	0	2	1	1	0	2	6	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:96917806T>C	ENST00000267584.4	+	10	1041	c.997T>C	c.(997-999)Ttt>Ctt	p.F333L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	333					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGAAGCGCTCTTTGTGAAGGA	0.368																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(997-999)Ttt>Ctt		Homo sapiens adenylate kinase 7 (AK7), mRNA.							86	84	85					14																	96917806		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96917806T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.997T>C	14.37:g.96917806T>C	ENSP00000267584:p.Phe333Leu						p.F333L	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	9	1041	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	333					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.997T>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820344	0.32145	.	.	ENSG00000140057	ENST00000267584	T	0.59502	0.26	5.72	3.36	0.38483	.	0.403473	0.29631	N	0.011606	T	0.44329	0.1288	L	0.45051	1.395	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.31530	-0.9940	10	0.34782	T	0.22	-7.1215	5.7324	0.18047	0.2606:0.0726:0.0:0.6668	.	333	Q96M32	KAD7_HUMAN	L	333	ENSP00000267584:F333L	ENSP00000267584:F333L	F	+	1	0	AK7	95987559	0.028000	0.19301	0.003000	0.11579	0.667000	0.39255	2.154000	0.42291	0.443000	0.26582	0.533000	0.62120	TTT		0.368	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			C	96917806	T	C	96917806	3	2	63	1	0	0	0	0	1	0	0	0	444	1609	56	4	1035	4	AK7	14	96917806	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	30889434	96917806	10431734	52	4193											
CREBBP	1387	broad.mit.edu	37	chr16	3842056	3842056	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcgtgtgcagttcttcCaatgagagatgatttgtcgt	8	15	11	7	2	1	3	0	2	1	1	4	4	2	3	1	0	1	2	1	0	1	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:3842056C>T	ENST00000262367.5	-	5	2065	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	419					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGTTCTTCCAATGAGAGAT	0.428			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1255-1257)tGg>tAg		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							157	136	143					16																	3842056		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3842056C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1256G>A	16.37:g.3842056C>T	ENSP00000262367:p.Trp419*					CREBBP_uc002cvw.3_Intron	p.W419*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1460	-		Ovarian(90;0.0266)	419					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.1256G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	46	12.431506	0.99667	.	.	ENSG00000005339	ENST00000262367	.	.	.	5.91	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9975	16.3448	0.83120	0.1332:0.8668:0.0:0.0	.	.	.	.	X	419	.	ENSP00000262367:W419X	W	-	2	0	CREBBP	3782057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.463000	0.47967	0.655000	0.94253	TGG		0.428	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		T	3842056	C	T	3842056	4	4	63	1	0	0	0	0	0	1	0	0	3861	595	21	3	6180	3	CREBBP	16	3842056	Nonsense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		3842056	86512697	53	4194											
CIITA	4261	broad.mit.edu	37	chr16	11000852	11000852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcatcctagacggcttCgaggagctggaagcgcaaga	10	7	13	11	3	1	2	1	0	0	2	3	5	2	4	1	3	3	4	1	3	3	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:11000852C>T	ENST00000324288.8	+	11	1636	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	501	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TAGACGGCTTCGAGGAGCTGG	0.647			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	uc002daj.4				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1504-1506)ttC>ttT		Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.							65	69	67					16																	11000852		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000852C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1503C>T	16.37:g.11000852C>T						CIITA_uc002dai.4_Silent_p.F501F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F501F|CIITA_uc002dah.2_Silent_p.F453F|CIITA_uc010bup.1_Intron	p.F502F	NM_000246	NP_000237	P33076	C2TA_HUMAN			10	1639	+			501			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1506C>T	CCDS10544.1																																																																																				0.647	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		T	11000852	C	T	11000852	2	4	63	1	0	0	0	0	0	0	0	1	3428	883	31	2		2	CIITA	16	11000852	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	7158796	11000852	79353901	54	4195											
PRKCB	5579	broad.mit.edu	37	chr16	24166139	24166139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctgcctgggaagccGcccttcctgacccagctcca	5	8	10	18	1	0	1	0	1	0	0	2	2	2	2	7	2	3	1	7	2	1	2	rs141827066	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:24166139G>A	ENST00000321728.7	+	10	1375	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_ENST00000303531.7_Silent_p.P400P	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P400P(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567																																						uc002dmd.3																			3	Substitution - coding silent(3)	p.P400P(4)	cervix(2)|central_nervous_system(1)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1198-1200)ccG>ccA		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						116	86	96					16																	24166139		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166139G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1200G>A	16.37:g.24166139G>A						PRKCB_uc002dme.3_Silent_p.P400P	p.P400P	NM_212535	NP_997700	P05771	KPCB_HUMAN			9	1397	+			400			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1200G>A	CCDS10618.1																																																																																				0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	24166139	G	A	24166139	2	1	63	1	0	0	0	0	0	0	0	1	12508	1074	38	1		1	PRKCB	16	24166139	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	13165287	24166139	66188614	55	4196											
LCMT1	51451	broad.mit.edu	37	chr16	25143735	25143735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccctaggatattttgctcGagtccatggtgtcagtcagc	7	12	10	12	1	2	0	2	0	0	0	4	2	3	1	3	2	2	1	3	2	2	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:25143735G>A	ENST00000399069.3	+	3	373	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	LCMT1_ENST00000380966.4_Missense_Mutation_p.R73Q	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	73					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TATTTTGCTCGAGTCCATGGT	0.488																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			0											c.(217-219)cGa>cAa		Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	L-Leucine(DB00149)						113	107	109					16																	25143735		1956	4141	6097	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25143735G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.218G>A	16.37:g.25143735G>A	ENSP00000382021:p.Arg73Gln					LCMT1_uc002dny.1_Missense_Mutation_p.R73Q	p.R73Q	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	2	376	+			73					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.218G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731394	0.89390	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.59224	0.28;0.28	5.51	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83659	0.0160	10	0.87932	D	0	-12.2829	9.4219	0.38557	0.0792:0.1444:0.7764:0.0	.	73;73	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	Q	73;73;90	ENSP00000382021:R73Q;ENSP00000370353:R73Q	ENSP00000370349:R90Q	R	+	2	0	LCMT1	25051236	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	8.729000	0.91490	0.691000	0.31592	0.655000	0.94253	CGA		0.488	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		A	25143735	G	A	25143735	3	1	63	1	0	0	0	0	1	0	0	0	8678	1058	37	2	228	2	LCMT1	16	25143735	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	977596	25143735	65211018	56	4197											
MYH2	4620	broad.mit.edu	37	chr17	10427836	10427836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaggagctcctgttctgCgatttttctgctcctctctg	4	16	8	13	1	3	0	0	0	3	0	7	2	6	1	3	1	3	3	3	1	0	3	rs147813930		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:10427836C>T	ENST00000245503.5	-	35	5506	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	MYH2_ENST00000397183.2_Missense_Mutation_p.A1708T|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1708					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGTTCTGCGATTTTTCTG	0.547																																						uc010coi.3																			0		p.I1707I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5122-5124)Gca>Aca		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.		C	THR/ALA,THR/ALA	0,4406		0,0,2203	101	98	99		5122,5122	5.3	1	17	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	1708/1942,1708/1942	10427836	3,13003	2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427836C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5122G>A	17.37:g.10427836C>T	ENSP00000245503:p.Ala1708Thr					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1708T|MYH2_uc010coj.3_Intron	p.A1708T	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			34	5250	-			1708					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5122G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466005	0.84425	0.0	3.49E-4	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83837	-1.77;-1.77	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.39020	U	0.001489	D	0.89677	0.6784	H	0.94734	3.575	0.80722	D	1	P	0.39759	0.687	B	0.41646	0.362	D	0.91792	0.5444	10	0.62326	D	0.03	.	19.1555	0.93509	0.0:1.0:0.0:0.0	.	1708	Q9UKX2	MYH2_HUMAN	T	1708	ENSP00000245503:A1708T;ENSP00000380367:A1708T	ENSP00000245503:A1708T	A	-	1	0	MYH2	10368561	1.000000	0.71417	0.993000	0.49108	0.634000	0.38068	7.563000	0.82314	2.755000	0.94549	0.491000	0.48974	GCA		0.547	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10427836	C	T	10427836	3	4	63	1	0	0	0	0	1	0	0	0	10035	768	27	1	727	1	MYH2	17	10427836	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		10427836	70767374	57	4198											
KRT16	3868	broad.mit.edu	37	chr17	39767641	39767641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctcctccttcaggcCttcgatctgcatctccaggt	5	11	9	16	1	3	0	1	0	2	0	7	1	5	0	5	3	2	2	5	3	0	2	rs370377321		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:39767641C>T	ENST00000301653.4	-	3	791	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	243	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCTTCAGGCCTTCGATCTGC	0.642																																						uc002hxg.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(727-729)Ggc>Agc		Homo sapiens keratin 16 (KRT16), mRNA.		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	79	77	77		727	-7.1	0	17		77	0,8600		0,0,4300	no	missense	KRT16	NM_005557.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	243/474	39767641	1,13005	2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767641C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.727G>A	17.37:g.39767641C>T	ENSP00000301653:p.Gly243Ser					JUP_uc010wfs.2_Intron	p.G243S	NM_005557	NP_005548	P08779	K1C16_HUMAN			2	866	-		Breast(137;0.000307)	243			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.727G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111709	0.06881	2.27E-4	0.0	ENSG00000186832	ENST00000301653	D	0.86230	-2.09	4.63	-7.11	0.01542	Filament (1);	0.649555	0.14373	N	0.323645	T	0.56963	0.2021	N	0.00424	-1.51	0.09310	N	1	B	0.11235	0.004	B	0.22753	0.041	T	0.55444	-0.8140	10	0.02654	T	1	.	17.7906	0.88551	0.0:0.6723:0.0:0.3277	.	243	P08779	K1C16_HUMAN	S	243	ENSP00000301653:G243S	ENSP00000301653:G243S	G	-	1	0	KRT16	37021167	0.000000	0.05858	0.001000	0.08648	0.910000	0.53928	-1.308000	0.02730	-1.651000	0.01504	-0.367000	0.07326	GGC		0.642	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		T	39767641	C	T	39767641	3	4	63	1	0	0	0	0	1	0	0	0	8453	681	24	3	718	3	KRT16	17	39767641	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	29339805	39767641	41427569	58	4199											
KIF2B	84643	broad.mit.edu	37	chr17	51900949	51900949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataccagaaaccccaactaCgaaatcatgcacatgatcga	18	6	5	12	2	1	2	1	1	0	1	2	4	1	2	3	0	5	1	3	0	6	2	rs369155067		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:51900949C>T	ENST00000268919.4	+	1	711	c.555C>T	c.(553-555)taC>taT	p.Y185Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	185					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCCCAACTACGAAATCATGC	0.562																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(553-555)taC>taT		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							76	68	70					17																	51900949		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900949C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.555C>T	17.37:g.51900949C>T						KIF2B_uc010wna.1_Non-coding_Transcript	p.Y185Y	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	711	+			185					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.555C>T	CCDS32685.1																																																																																				0.562	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900949	C	T	51900949	2	4	63	1	0	0	0	0	0	0	0	1	8298	547	19	1		1	KIF2B	17	51900949	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	12133308	51900949	29294261	59	4200											
ANKFN1	162282	broad.mit.edu	37	chr17	54452045	54452045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaagagcctcttagcGtcaatgcagctgtagtaacc	10	10	9	12	1	2	1	1	0	1	1	3	1	3	1	3	0	5	5	3	0	5	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:54452045G>A	ENST00000318698.2	+	7	924	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V297I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	297	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCCTCTTAGCGTCAATGCAGC	0.458																																						uc002iun.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(889-891)Gtc>Atc		Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.							186	166	173					17																	54452045		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54452045G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.889G>A	17.37:g.54452045G>A	ENSP00000321627:p.Val297Ile						p.V297I	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			6	924	+			297			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.889G>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528484	0.27299	.	.	ENSG00000153930	ENST00000318698	T	0.57436	0.4	5.51	2.41	0.29592	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.440619	0.26492	N	0.024067	T	0.41994	0.1183	L	0.52364	1.645	0.32171	N	0.581609	B	0.06786	0.001	B	0.08055	0.003	T	0.43861	-0.9365	10	0.18276	T	0.48	-1.1929	10.0473	0.42195	0.2733:0.0:0.7267:0.0	.	297	Q8N957	ANKF1_HUMAN	I	297	ENSP00000321627:V297I	ENSP00000321627:V297I	V	+	1	0	ANKFN1	51807044	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	1.425000	0.34859	0.378000	0.24764	-0.152000	0.13540	GTC		0.458	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		A	54452045	G	A	54452045	3	1	63	1	0	0	0	0	1	0	0	0	625	1145	40	1	915	1	ANKFN1	17	54452045	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	2551096	54452045	26743165	60	4201											
CCDC46	201134	broad.mit.edu	37	chr17	63848135	63848135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacttgtgaacctgggcCtccatgtcggcaataacctt	9	11	8	13	1	1	1	1	1	0	0	3	1	2	1	4	2	3	1	4	2	4	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:63848135C>T	ENST00000392769.2	-	21	2399	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E	CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000541355.1_Silent_p.E362E|CEP112_ENST00000537949.1_Silent_p.E685E|CEP112_ENST00000535342.2_Silent_p.E727E	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	727					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAACCTGGGCCTCCATGTCGG	0.418																																						uc002jfl.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2179-2181)gaG>gaA		Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.							65	61	62					17																	63848135		2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63848135C>T	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2181G>A	17.37:g.63848135C>T						CEP112_uc010deo.3_Silent_p.E469E|CEP112_uc002jfm.3_Silent_p.E727E|CEP112_uc010dep.2_Silent_p.E685E	p.E727E	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN			20	2400	-			727					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2181G>A	CCDS32710.1																																																																																				0.418	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		T	63848135	C	T	63848135	2	4	63	1	0	0	0	0	0	0	0	1	2817	680	24	3		3	CCDC46	17	63848135	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	9396090	63848135	17347075	61	4202											
MC5R	4161	broad.mit.edu	37	chr18	13826256	13826256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaggggccatcatcgcCggcatctgggctttctgcac	5	9	12	15	3	4	0	2	0	2	0	5	0	4	0	2	4	1	4	2	4	0	1	rs45575841		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr18:13826256C>T	ENST00000324750.3	+	1	714	c.492C>T	c.(490-492)gcC>gcT	p.A164A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	164					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCATCGCCGGCATCTGGG	0.572													C|||	1	0.000199681	0	0.0014	5008	,	,		21976	0		0	False		,,,				2504	0					uc010xaf.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(490-492)gcC>gcT		Homo sapiens melanocortin 5 receptor (MC5R), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	256	234	242		492	-10	0	18	dbSNP_127	242	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous	MC5R	NM_005913.2		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		164/326	13826256	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826256C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.492C>T	18.37:g.13826256C>T							p.A164A	NM_005913	NP_005904	P33032	MC5R_HUMAN			0	714	+			164					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.492C>T	CCDS11868.1																																																																																				0.572	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826256	C	T	13826256	2	4	63	1	0	0	0	0	0	0	0	1	9367	639	23	2		2	MC5R	18	13826256	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		13826256	64250992	62	4203											
LASS4	79603	broad.mit.edu	37	chr19	8320541	8320541	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcacgctgcagcagacCcagcgatggttccggagacg	8	5	14	14	4	1	2	1	0	0	2	2	4	2	2	3	3	3	4	3	3	0	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr19:8320541C>G	ENST00000251363.5	+	5	642	c.342C>G	c.(340-342)acC>acG	p.T114T	CERS4_ENST00000558331.1_Silent_p.T63T|CERS4_ENST00000559336.1_Silent_p.T114T|CERS4_ENST00000559450.1_Silent_p.T114T|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	114					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGCAGCAGACCCAGCGATGGT	0.652																																						uc002mjg.3																			0											c.(340-342)acC>acG		Homo sapiens ceramide synthase 4 (CERS4), mRNA.							30	34	32					19																	8320541		2203	4300	6503	SO:0001819	synonymous_variant	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8320541C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.342C>G	19.37:g.8320541C>G						CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Silent_p.T114T	p.T114T	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			4	662	+			114					D6W665	Silent	SNP	ENST00000251363.5	37	c.342C>G	CCDS12197.1																																																																																				0.652	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		G	8320541	C	G	8320541	2	3	63	1	0	0	0	0	0	0	0	1	8641	610	22	5		5	LASS4	19	8320541	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		8320541	50808442	63	4204											
CYP4F2	8529	broad.mit.edu	37	chr19	15990424	15990424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgcacctcagggtccGgccacacagctgggttgtga	6	6	14	15	2	1	1	1	1	0	0	2	1	2	1	5	4	1	3	5	4	0	1	rs550261161		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr19:15990424G>A	ENST00000221700.6	-	11	1399	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCAGGGTCCGGCCACACAGC	0.567													.|||	1	0.000199681	0	0	5008	,	,		18204	0		0	False		,,,				2504	0.001					uc002nbs.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1303-1305)cCg>cTg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.							102	111	108					19																	15990424		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990424G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1304C>T	19.37:g.15990424G>A	ENSP00000221700:p.Pro435Leu					CYP4F2_uc010xot.1_Missense_Mutation_p.P286L	p.P435L	NM_001082	NP_001073	P78329	CP4F2_HUMAN			10	1354	-			435						Missense_Mutation	SNP	ENST00000221700.6	37	c.1304C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.918004	0.52546	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72394	-0.65	2.78	2.78	0.32641	.	0.085567	0.46442	U	0.000291	D	0.84065	0.5390	M	0.89601	3.045	0.80722	D	1	D	0.61697	0.99	D	0.66351	0.943	D	0.86736	0.1951	10	0.72032	D	0.01	.	11.279	0.49184	0.0:0.0:1.0:0.0	.	435	P78329	CP4F2_HUMAN	L	435;286	ENSP00000221700:P435L	ENSP00000221700:P435L	P	-	2	0	CYP4F2	15851424	1.000000	0.71417	0.975000	0.42487	0.441000	0.31987	3.764000	0.55264	1.528000	0.49103	0.491000	0.48974	CCG		0.567	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		A	15990424	G	A	15990424	3	1	63	1	0	0	0	0	1	0	0	0	4188	1116	39	2	270	2	CYP4F2	19	15990424	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	7669883	15990424	43138559	64	4205											
MATN4	8785	broad.mit.edu	37	chr20	43929967	43929967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgttgctcacccctgcAgctcctctggtcctgctgga	3	11	13	14	0	2	0	1	0	1	0	4	1	4	1	4	4	4	5	4	4	0	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:43929967A>G	ENST00000372754.1	-	4	891	c.883T>C	c.(883-885)Tgc>Cgc	p.C295R	MATN4_ENST00000372756.1_Missense_Mutation_p.C254R|MATN4_ENST00000342716.4_Missense_Mutation_p.C254R|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.C254R|MATN4_ENST00000360607.6_Intron|MATN4_ENST00000372751.4_Missense_Mutation_p.C105R			O95460	MATN4_HUMAN	matrilin 4	295					extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCACCCCTGCAGCTCCTCTGG	0.587											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(760-762)Tgc>Cgc		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							95	100	98					20																	43929967		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43929967A>G	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.883T>C	20.37:g.43929967A>G	ENSP00000361840:p.Cys295Arg		OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R	p.C254R	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	947	-		Myeloproliferative disorder(115;0.0122)	295			EGF-like 1; incomplete.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.760T>C		.	.	.	.	.	.	.	.	.	.	A	24.2	4.504625	0.85176	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D	0.99949	-8.69;-8.69;-8.69;-8.69;-8.69;-8.69	5.89	5.89	0.94794	.	0.000000	0.48286	D	0.000193	D	0.99967	0.9988	H	0.99811	4.8	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96653	0.9483	10	0.87932	D	0	.	15.5446	0.76086	1.0:0.0:0.0:0.0	.	254	O95460-2	.	R	105;295;254;254;254;295;105	ENSP00000361839:C105R;ENSP00000361840:C295R;ENSP00000361842:C254R;ENSP00000343164:C254R;ENSP00000440328:C254R;ENSP00000361837:C105R	ENSP00000255132:C295R	C	-	1	0	MATN4	43363381	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.243000	0.95416	2.267000	0.75376	0.529000	0.55759	TGC		0.587	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			G	43929967	A	G	43929967	3	3	63	1	0	0	0	0	1	0	0	0	9336	188	7	4	1013	4	MATN4	20	43929967	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08		43929967	19095553	65	4206											
OPRL1	4987	broad.mit.edu	37	chr20	62724089	62724089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcatggagcccctcttcCccgcgccgttctgggaggtt	3	10	14	14	3	2	0	0	0	2	0	3	2	3	2	5	4	1	3	5	4	0	3	rs148535906		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:62724089C>T	ENST00000349451.3	+	4	428	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPRL1_ENST00000336866.2_Missense_Mutation_p.P6S|OPRL1_ENST00000355631.4_Missense_Mutation_p.P6S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	6					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCCCTCTTCCCCGCGCCGTT	0.632																																						uc002yic.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(16-18)Ccc>Tcc		Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.							62	61	61					20																	62724089		2198	4291	6489	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62724089C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.16C>T	20.37:g.62724089C>T	ENSP00000336764:p.Pro6Ser					OPRL1_uc002yid.3_Missense_Mutation_p.P6S|OPRL1_uc021wgs.1_Missense_Mutation_p.P6S|OPRL1_uc002yif.4_Missense_Mutation_p.P6S	p.P6S	NM_182647	NP_872588	P41146	OPRX_HUMAN			2	435	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		6					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.16C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953804	0.18431	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.62498	0.02;0.02;0.02	3.9	2.93	0.34026	.	3.630070	0.00669	N	0.000628	T	0.46678	0.1405	N	0.08118	0	0.35120	D	0.766945	B;B	0.16396	0.017;0.005	B;B	0.11329	0.006;0.003	T	0.36187	-0.9758	10	0.40728	T	0.16	.	10.3783	0.44096	0.0:0.8316:0.0:0.1684	.	6;6	P41146-2;P41146	.;OPRX_HUMAN	S	6	ENSP00000336843:P6S;ENSP00000347848:P6S;ENSP00000336764:P6S	ENSP00000336843:P6S	P	+	1	0	OPRL1	62194533	0.967000	0.33354	0.873000	0.34254	0.152000	0.21847	0.878000	0.28126	1.747000	0.51819	0.450000	0.29827	CCC		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		T	62724089	C	T	62724089	3	4	63	1	0	0	0	0	1	0	0	0	10886	623	22	3	18	3	OPRL1	20	62724089	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	18794122	62724089	301431	66	4207											
KCNJ15	3772	broad.mit.edu	37	chr21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggactctctcactggggCgtttctcttttccctggaat	5	15	10	11	1	3	0	1	0	2	0	6	2	4	2	1	4	0	1	1	4	1	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:39671533C>T	ENST00000328656.4	+	4	653	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_ENST00000398930.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	117					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CTCACTGGGGCGTTTCTCTTT	0.493																																						uc021wjc.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(349-351)gCg>gTg		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.							97	99	98					21																	39671533		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671533C>T	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.350C>T	21.37:g.39671533C>T	ENSP00000331698:p.Ala117Val					KCNJ15_uc002ywv.3_Missense_Mutation_p.A117V|KCNJ15_uc002yww.3_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.3_Missense_Mutation_p.A117V	p.A117V	NM_170737	NP_733933	Q99712	IRK15_HUMAN			0	350	+			117					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.350C>T	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969301	0.74246	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	5.64	5.64	0.86602	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99368	1.0919	9	.	.	.	.	19.6932	0.96010	0.0:1.0:0.0:0.0	.	117	Q99712	IRK15_HUMAN	V	117	ENSP00000331698:A117V;ENSP00000381902:A117V;ENSP00000381911:A117V;ENSP00000381905:A117V;ENSP00000414487:A117V;ENSP00000381904:A117V;ENSP00000381907:A117V;ENSP00000381901:A117V;ENSP00000400849:A117V	.	A	+	2	0	KCNJ15	38593403	1.000000	0.71417	0.861000	0.33841	0.290000	0.27261	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCG		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		T	39671533	C	T	39671533	3	4	63	1	0	0	0	0	1	0	0	0	8049	768	27	1	352	1	KCNJ15	21	39671533	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		39671533	8458362	67	4208											
UMODL1	89766	broad.mit.edu	37	chr21	43522316	43522316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataaagattgtaaaccaCaacctgacggagaagttact	18	8	7	8	1	0	3	0	1	0	2	0	4	0	3	2	1	3	2	2	1	8	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:43522316C>A	ENST00000408910.2	+	8	1227	c.1227C>A	c.(1225-1227)caC>caA	p.H409Q	UMODL1_ENST00000408989.2_Missense_Mutation_p.H409Q|UMODL1_ENST00000400427.1_Missense_Mutation_p.H337Q|UMODL1_ENST00000400424.2_Missense_Mutation_p.H337Q|C21orf128_ENST00000329015.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	409	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTGTAAACCACAACCTGACGG	0.428																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1225-1227)caC>caA		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							97	97	97					21																	43522316		1907	4123	6030	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43522316C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1227C>A	21.37:g.43522316C>A	ENSP00000386147:p.His409Gln					UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zaf.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR	p.H409Q	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			7	1227	+			409			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1227C>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816395	0.02776	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	3.99	1.05	0.20165	SEA (1);	0.946870	0.08752	N	0.898989	T	0.29556	0.0737	L	0.40543	1.245	0.19300	N	0.99998	B;P;B	0.42375	0.404;0.778;0.316	B;P;B	0.44518	0.22;0.452;0.222	T	0.16453	-1.0402	10	0.26408	T	0.33	-9.4479	3.6287	0.08123	0.3458:0.458:0.0:0.1962	.	337;409;409	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	Q	337;337;409;409	ENSP00000383279:H337Q;ENSP00000383276:H337Q;ENSP00000386126:H409Q;ENSP00000386147:H409Q	ENSP00000383276:H337Q	H	+	3	2	UMODL1	42395385	0.001000	0.12720	0.003000	0.11579	0.021000	0.10359	-0.569000	0.05902	0.079000	0.16929	-0.152000	0.13540	CAC		0.428	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43522316	C	A	43522316	3	1	63	1	0	0	0	0	1	0	0	0	16977	477	17	5	1257	5	UMODL1	21	43522316	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	3850783	43522316	4607579	68	4209											
STAG2	10735	broad.mit.edu	37	chrX	123205046	123205047	+	Frame_Shift_Del	DEL	TA	TA	-																															atgatcttcagccatcagatTatgtcaggagggcgtgacat																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chrX:123205046_123205047delTA	ENST00000371160.1	+	25	2696_2697	c.2406_2407delTA	c.(2404-2409)attatgfs	p.M803fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.M803fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.M803fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.M803fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.M803fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.M734fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	803					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCCATCAGATTATGTCAGGAGG	0.376																																						uc004eua.3																			0		p.Q801*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2404-2409)attatgfs		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123205046_123205047delTA	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2406_2407delTA	X.37:g.123205046_123205047delTA	ENSP00000360202:p.Met803fs					STAG2_uc004etz.4_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.3_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.3_Frame_Shift_Del_p.I802fs	p.I802fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			24	2810_2811	+			802					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.2406_2407delTA	CCDS14607.1																																																																																				0.376	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		-	123205047	TA	-	123205046	7	5	63	1	0	1	0	1	0	0	0	0	15242	1742	61	0	2496	0	STAG2	23	123205046	Frame_Shift_Del	DEL	TA	TCGA-06-0749-01A-01W-0348-08		123205046	32065514	69	4210											
SCNN1D	6339	broad.mit.edu	37	chr1	1222331	1222331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgagccactcgggcagCcgggtcagagtggggttcag	7	6	18	10	2	2	2	2	1	0	1	3	2	2	2	2	5	2	3	2	5	0	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:1222331C>T	ENST00000338555.2	+	5	1747	c.603C>T	c.(601-603)agC>agT	p.S201S	SCNN1D_ENST00000400928.3_Silent_p.S201S|SCNN1D_ENST00000325425.8_Silent_p.S267S|SCNN1D_ENST00000379116.5_Silent_p.S365S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	201					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	ACTCGGGCAGCCGGGTCAGAG	0.697																																						uc001adt.1																			0				lung(6)|skin(1)	7						c.(1093-1095)agC>agT		Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.							25	31	29					1																	1222331		2188	4290	6478	SO:0001819	synonymous_variant	6339							g.chr1:1222331C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.603C>T	1.37:g.1222331C>T						SCNN1D_uc001adu.1_Silent_p.S201S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adv.2_Silent_p.S201S|SCNN1D_uc001adx.2_5'UTR	p.S365S	NM_001130413	NP_001123885				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	7	1321	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37	c.1095C>T																																																																																					0.697	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		T	1222331	C	T	1222331	2	4	64	1	0	0	0	0	0	0	0	1	13929	738	26	3		3	SCNN1D	1	1222331	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		1222331	248028290	1	4211											
SYDE2	84144	broad.mit.edu	37	chr1	85656020	85656020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggcctcaccaaaactCaaggcacttgatataccaag	14	7	8	12	1	2	1	2	1	0	0	3	2	2	1	3	2	2	1	3	2	6	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:85656020C>A	ENST00000341460.5	-	2	1210	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	387					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCAAAACTCAAGGCACTTG	0.448																																						uc009wcm.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1159-1161)ttG>ttT		Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.							70	70	70					1																	85656020		2087	4217	6304	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85656020C>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1161G>T	1.37:g.85656020C>A	ENSP00000340594:p.Leu387Phe					SYDE2_uc001dku.4_Missense_Mutation_p.L387F	p.L387F	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	1	1210	-			387					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1161G>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	5.557	0.287693	0.10513	.	.	ENSG00000097096	ENST00000341460	T	0.08102	3.13	6.05	2.97	0.34412	.	0.458962	0.18410	N	0.142067	T	0.06416	0.0165	M	0.65975	2.015	0.09310	N	1	P;D	0.53885	0.8;0.963	P;P	0.53809	0.467;0.735	T	0.24693	-1.0153	10	0.66056	D	0.02	.	2.3033	0.04168	0.1856:0.4568:0.1974:0.1602	.	387;387	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	F	387	ENSP00000340594:L387F	ENSP00000340594:L387F	L	-	3	2	SYDE2	85428608	0.002000	0.14202	0.270000	0.24601	0.047000	0.14425	0.704000	0.25661	0.387000	0.25024	-0.142000	0.14014	TTG		0.448	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			A	85656020	C	A	85656020	3	1	64	1	0	0	0	0	1	0	0	0	15433	825	29	5	2447	5	SYDE2	1	85656020	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	84433689	85656020	163594601	2	4212											
FLG	2312	broad.mit.edu	37	chr1	152281389	152281389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgttcatgggatgaCgcagcctgtccacgagagga	8	9	13	11	2	1	2	1	1	0	1	2	5	2	4	3	2	2	2	3	2	0	2	rs138652718	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				-|||	9	0.00179712	0.0053	0.0029	5008	,	,		29400	0		0	False		,,,				2504	0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5971-5973)gcG>gcA		Homo sapiens filaggrin (FLG), mRNA.		C		29,4377	33.5+/-64.1	0,29,2174	584	465	505		5973	-7.1	0	1	dbSNP_134	505	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,29,6474	TT,TC,CC		0.0,0.6582,0.223		1991/4062	152281389	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281389C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5973G>A	1.37:g.152281389C>T							p.A1991A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6009	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1991			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5973G>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281389	C	T	152281389	2	4	64	1	0	0	0	0	0	0	0	1	5922	523	19	1		1	FLG	1	152281389	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	66625369	152281389	96969232	3	4213											
KLHL20	27252	broad.mit.edu	37	chr1	173744944	173744944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccccagaaccaaccagtGgtctccagtggtggccatga	11	6	10	14	0	1	2	0	1	1	1	2	2	1	2	6	3	3	0	6	3	3	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:173744944G>T	ENST00000209884.4	+	10	1737	c.1601G>T	c.(1600-1602)tGg>tTg	p.W534L	KLHL20_ENST00000546011.1_Missense_Mutation_p.W345L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	534					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCAACCAGTGGTCTCCAGTG	0.478																																					GBM(159;862 2695 6559 23041)	uc001gjc.3																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1600-1602)tGg>tTg		Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.							111	110	110					1																	173744944		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744944G>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1601G>T	1.37:g.173744944G>T	ENSP00000209884:p.Trp534Leu					KLHL20_uc010pmr.2_Missense_Mutation_p.W345L|KLHL20_uc009wwf.3_Missense_Mutation_p.W516L	p.W534L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			9	1780	+			534					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1601G>T	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777944	0.90195	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.96940	-4.18;-4.18	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99410	1.0930	10	0.87932	D	0	.	17.7813	0.88524	0.0:0.0:1.0:0.0	.	345;534	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	L	345;534	ENSP00000443121:W345L;ENSP00000209884:W534L	ENSP00000209884:W534L	W	+	2	0	KLHL20	172011567	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.296000	0.96104	2.491000	0.84063	0.655000	0.94253	TGG		0.478	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		T	173744944	G	T	173744944	3	4	64	1	0	0	0	0	1	0	0	0	8375	1357	47	5	1635	5	KLHL20	1	173744944	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	21463555	173744944	75505677	4	4214											
GPR17	2840	broad.mit.edu	37	chr2	128408380	128408380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacggcagagcaatgtgGccaggagacgccactggaga	11	3	16	11	2	0	3	0	0	0	3	0	5	0	3	3	5	1	2	3	5	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:128408380G>T	ENST00000272644.3	+	3	229	c.155G>T	c.(154-156)gGc>gTc	p.G52V	LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.G52V|GPR17_ENST00000544369.1_Missense_Mutation_p.G52V|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	52					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gagcaatgtggccaggagacg	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010yzn.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(154-156)gGc>gTc		Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.							93	93	93					2																	128408380		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408380G>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.155G>T	2.37:g.128408380G>T	ENSP00000272644:p.Gly52Val		OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1564	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.G52V|GPR17_uc010yzo.2_Missense_Mutation_p.G24V|GPR17_uc002tpd.3_Missense_Mutation_p.G24V	p.G52V	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	3	766	+	Colorectal(110;0.1)	Ovarian(717;0.15)	52					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.155G>T	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	g	8.191	0.795973	0.16327	.	.	ENSG00000144230	ENST00000544369;ENST00000339805;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.17	5.17	0.71159	.	0.202934	0.42294	D	0.000737	T	0.16257	0.0391	N	0.08118	0	0.58432	D	0.999996	P	0.35272	0.493	B	0.23275	0.045	T	0.13764	-1.0497	10	0.16896	T	0.51	.	13.9479	0.64096	0.0:0.0:0.8481:0.1519	.	52	Q13304	GPR17_HUMAN	V	52;24;52;52;52	ENSP00000442982:G52V;ENSP00000272644:G52V;ENSP00000387970:G52V;ENSP00000376741:G52V	ENSP00000272644:G52V	G	+	2	0	GPR17	128124850	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	1.873000	0.39558	2.573000	0.86826	0.655000	0.94253	GGC		0.547	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			T	128408380	G	T	128408380	3	4	64	1	0	0	0	0	1	0	0	0	6667	1203	42	5	161	5	GPR17	2	128408380	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		128408380	114790993	5	4215											
FAM123C	205147	broad.mit.edu	37	chr2	131521709	131521709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaagatcagctcaaaCgaacagcccccggccgcatg	11	4	10	16	3	2	2	2	1	0	1	2	3	2	2	4	1	4	2	4	1	3	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:131521709C>T	ENST00000423981.1	+	2	2174	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	AMER3_ENST00000321420.4_Silent_p.N688N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	688					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TCAGCTCAAACGAACAGCCCC	0.652																																						uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(2062-2064)aaC>aaT		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							21	23	22					2																	131521709		2201	4299	6500	SO:0001819	synonymous_variant	205147							g.chr2:131521709C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2064C>T	2.37:g.131521709C>T						FAM123C_uc002trw.2_Silent_p.N688N|FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	p.N688N	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	2064	+	Colorectal(110;0.1)		688					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2064C>T	CCDS2164.1																																																																																				0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131521709	C	T	131521709	2	4	64	1	0	0	0	0	0	0	0	1	5424	535	19	1		1	FAM123C	2	131521709	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	3113329	131521709	111677664	6	4216											
TMEM144	55314	broad.mit.edu	37	chr4	159136389	159136389	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccatatggttggttgcCttggttgtcaatctgatatt	6	17	11	7	0	2	1	1	1	1	0	2	1	2	1	2	3	2	4	2	3	3	7	rs149733307		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr4:159136389C>G	ENST00000296529.6	+	4	676	c.156C>G	c.(154-156)gcC>gcG	p.A52A	TMEM144_ENST00000514558.1_Silent_p.A52A	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	52						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGTTGGTTGCCTTGGTTGTCA	0.383																																						uc003ipx.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(154-156)gcC>gcG		Homo sapiens transmembrane protein 144 (TMEM144), mRNA.							242	216	224					4																	159136389		2203	4300	6503	SO:0001819	synonymous_variant	55314					integral to membrane		g.chr4:159136389C>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.156C>G	4.37:g.159136389C>G						TMEM144_uc010iqi.3_Non-coding_Transcript	p.A52A	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	3	676	+	all_hematologic(180;0.24)	Renal(120;0.0854)	52					D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	c.156C>G	CCDS3799.1																																																																																				0.383	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		G	159136389	C	G	159136389	2	3	64	1	0	0	0	0	0	0	0	1	16055	668	24	5		5	TMEM144	4	159136389	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		159136389	32017887	7	4217											
PIK3R1	5295	broad.mit.edu	37	chr5	67591246	67591246	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcaaaactgtttttcAggtggttgactcaaaaaggt	11	16	8	6	0	4	1	3	1	1	0	4	1	4	1	0	3	1	2	0	3	4	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:67591246A>G	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		12	Unknown(10)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.?(10)|p.Y580fs*1(1)|p.0?(1)	endometrium(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14-2		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						150	148	149					5																	67591246		2203	4300	6503	SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591246A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1746-1A>G	5.37:g.67591246A>G		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	p.M582_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2326	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	582					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	ENST00000521381.1	37	c.1746_splice	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060385	0.76074	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6086	0.68498	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67627002	1.000000	0.71417	0.981000	0.43875	0.926000	0.56050	9.105000	0.94246	2.036000	0.60181	0.377000	0.23210	.		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	G	67591246	A	G	67591246	5	3	64	1	0	0	0	0	0	0	1	0	11918	202	7	4	1924	4	PIK3R1	5	67591246	Splice_Site	SNP	A	TCGA-06-0750-01A-01W-0348-08		67591246	113324014	8	4218											
FSTL4	23105	broad.mit.edu	37	chr5	132535036	132535036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagctccaggaacagcagGtccggctccgtgtgcagagc	9	5	14	13	2	0	1	0	0	0	1	3	3	3	2	3	3	5	4	3	3	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:132535036G>T	ENST00000265342.7	-	16	2529	c.2280C>A	c.(2278-2280)gaC>gaA	p.D760E	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	760						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAACAGCAGGTCCGGCTCCG	0.582																																						uc003kyn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2278-2280)gaC>gaA		Homo sapiens follistatin-like 4 (FSTL4), mRNA.							59	58	58					5																	132535036		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535036G>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2280C>A	5.37:g.132535036G>T	ENSP00000265342:p.Asp760Glu					FSTL4_uc003kym.1_Missense_Mutation_p.D409E	p.D760E	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2498	-		all_cancers(142;0.244)	760					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2280C>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474726	0.26511	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.52526	0.66	4.76	0.788	0.18601	WD40/YVTN repeat-like-containing domain (1);	0.360815	0.30859	N	0.008732	T	0.42471	0.1204	M	0.79011	2.435	0.32636	N	0.521348	B;P	0.43352	0.376;0.804	B;B	0.39840	0.108;0.311	T	0.54344	-0.8308	10	0.72032	D	0.01	-5.2742	4.0794	0.09919	0.3767:0.1789:0.4444:0.0	.	760;409	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	E	760;591	ENSP00000265342:D760E	ENSP00000265342:D760E	D	-	3	2	FSTL4	132562935	0.579000	0.26725	0.537000	0.28052	0.368000	0.29767	0.584000	0.23864	0.405000	0.25532	0.585000	0.79938	GAC		0.582	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		T	132535036	G	T	132535036	3	4	64	1	0	0	0	0	1	0	0	0	6079	1252	44	5	252	5	FSTL4	5	132535036	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	64943790	132535036	48380224	9	4219											
ARHGAP26	23092	broad.mit.edu	37	chr5	142281566	142281566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggccaaggatttcGgggacttcaagacacagtta	13	8	11	9	2	1	1	1	0	0	1	2	4	1	3	1	4	1	1	1	4	4	3	rs148543665		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:142281566G>A	ENST00000274498.4	+	7	1042	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.G222R	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	222					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.G222W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGATTTCGGGGACTTCAA	0.448																																						uc011dbj.2																			1	Substitution - Missense(1)	p.G222W(2)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(664-666)Ggg>Agg		Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	159	137	145		664,664	-1.9	0.1	5	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP26	NM_001135608.1,NM_015071.4	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	222/760,222/815	142281566	1,13005	2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142281566G>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.664G>A	5.37:g.142281566G>A	ENSP00000274498:p.Gly222Arg					ARHGAP26_uc003lmt.3_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.3_Missense_Mutation_p.G222R	p.G222R	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	699	+		all_hematologic(541;0.0416)	222					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.664G>A	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702815	0.48307	0.0	1.16E-4	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.04083	3.71;3.71	5.79	-1.85	0.07784	.	0.376367	0.34603	N	0.003830	T	0.02267	0.0070	N	0.01576	-0.805	0.31060	N	0.714266	P;B	0.51147	0.942;0.001	P;B	0.48627	0.584;0.003	T	0.45190	-0.9278	10	0.16420	T	0.52	.	11.9348	0.52868	0.8099:0.0:0.1901:0.0	.	222;222	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	R	222	ENSP00000274498:G222R;ENSP00000367243:G222R	ENSP00000274498:G222R	G	+	1	0	ARHGAP26	142261750	1.000000	0.71417	0.112000	0.21494	0.989000	0.77384	1.999000	0.40806	-0.224000	0.09928	0.563000	0.77884	GGG		0.448	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		A	142281566	G	A	142281566	3	1	64	1	0	0	0	0	1	0	0	0	875	1116	39	2	690	2	ARHGAP26	5	142281566	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	9746530	142281566	38633694	10	4220											
SNX14	57231	broad.mit.edu	37	chr6	86253476	86253476	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaattctatcattaaattCctctaacaaatgagggaatg	17	13	5	6	0	3	1	1	1	2	0	4	2	4	2	1	1	1	0	1	1	8	6			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr6:86253476C>A	ENST00000314673.3	-	13	1287	c.1111G>T	c.(1111-1113)Gaa>Taa	p.E371*	SNX14_ENST00000346348.3_Nonsense_Mutation_p.E327*|SNX14_ENST00000369627.2_Nonsense_Mutation_p.E371*|SNX14_ENST00000513865.1_Nonsense_Mutation_p.E371*|SNX14_ENST00000505648.1_Nonsense_Mutation_p.E319*|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	371	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCATTAAATTCCTCTAACAAA	0.279																																						uc003pkr.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(1111-1113)Gaa>Taa		Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.							26	27	27					6																	86253476		2195	4278	6473	SO:0001587	stop_gained	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86253476C>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1111G>T	6.37:g.86253476C>A	ENSP00000313121:p.Glu371*					SNX14_uc003pkp.3_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Nonsense_Mutation_p.E319*|SNX14_uc003pks.3_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.3_Nonsense_Mutation_p.E371*	p.E371*	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	12	1304	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	371			RGS.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Nonsense_Mutation	SNP	ENST00000314673.3	37	c.1111G>T	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	41	9.027495	0.99040	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-17.8318	15.5364	0.76007	0.0:0.8617:0.1383:0.0	.	.	.	.	X	327;371;371;319;371;298	.	ENSP00000313121:E371X	E	-	1	0	SNX14	86310195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.492000	0.66893	2.602000	0.87976	0.467000	0.42956	GAA		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		A	86253476	C	A	86253476	4	1	64	1	0	0	0	0	0	1	0	0	14885	864	30	5	1797	5	SNX14	6	86253476	Nonsense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		86253476	84861591	11	4221											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AA																															agggcaaatacagctttggtGccacctgcgtgaagaagtgt																								rs149840192		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55221821_55221822GC>AA	ENST00000275493.2	+	7	1042_1043	c.865_866GC>AA	c.(865-867)GCc>AAc	p.A289N	EGFR_ENST00000442591.1_Missense_Mutation_p.A289N|EGFR_ENST00000344576.2_Missense_Mutation_p.A289N|EGFR_ENST00000420316.2_Missense_Mutation_p.A289N|EGFR_ENST00000455089.1_Missense_Mutation_p.A244N|EGFR_ENST00000454757.2_Missense_Mutation_p.A236N|EGFR_ENST00000342916.3_Missense_Mutation_p.A289N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289T(3)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		26	Substitution - Missense(26)	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)	central_nervous_system(26)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gcc>AAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821_55221822GC>AA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	Exception_encountered	7.37:g.55221821_55221822delinsAA	ENSP00000275493:p.Ala289Asn	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289N|EGFR_uc003tqi.3_Missense_Mutation_p.A289N|EGFR_uc003tqj.3_Missense_Mutation_p.A289N|EGFR_uc022adm.1_Missense_Mutation_p.A289N|EGFR_uc010kzg.2_Missense_Mutation_p.A244N|EGFR_uc022adn.1_Missense_Mutation_p.A244N|EGFR_uc011kco.2_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289N	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111_1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	DNP	ENST00000275493.2	37	c.865_866GC>AA	CCDS5514.1																																																																																				0.589	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		AA	55221822	GC	AA	55221821	3	1	64	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	DNP	GC	TCGA-06-0750-01A-01W-0348-08		55221821	103916842	12	4222											
EGFR	1956	broad.mit.edu	37	chr7	55233037	55233037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtcaagacctgccCggcaggagtcatgggagaaa	11	5	13	12	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55233037C>G	ENST00000275493.2	+	15	1964	c.1787C>G	c.(1786-1788)cCg>cGg	p.P596R	EGFR_ENST00000442591.1_Missense_Mutation_p.P596R|EGFR_ENST00000344576.2_Missense_Mutation_p.P596R|EGFR_ENST00000455089.1_Missense_Mutation_p.P551R|EGFR_ENST00000454757.2_Missense_Mutation_p.P543R|EGFR_ENST00000342916.3_Missense_Mutation_p.P596R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P596L(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.P596L(7)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1786-1788)cCg>cGg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93	81	85					7																	55233037		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233037C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1787C>G	7.37:g.55233037C>G	ENSP00000275493:p.Pro596Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596R|EGFR_uc003tqj.3_Missense_Mutation_p.P596R|EGFR_uc022adm.1_Missense_Mutation_p.P596R|EGFR_uc010kzg.2_Missense_Mutation_p.P551R|EGFR_uc022adn.1_Missense_Mutation_p.P551R|EGFR_uc011kco.2_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1787C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833608	0.91036	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.998	D	0.86044	0.1521	10	0.87932	D	0	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	R	551;596;466;596;596;596;543;390	ENSP00000415559:P551R;ENSP00000342376:P596R;ENSP00000345973:P596R;ENSP00000275493:P596R;ENSP00000410031:P596R;ENSP00000395243:P543R	ENSP00000275493:P596R	P	+	2	0	EGFR	55200531	1.000000	0.71417	0.967000	0.41034	0.752000	0.42762	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55233037	C	G	55233037	3	3	64	1	0	0	0	0	1	0	0	0	4967	652	23	5	1856	5	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	11216	55233037	103905626	13	4223											
BPGM	669	broad.mit.edu	37	chr7	134346723	134346723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggatcaactgccacggtCggaaagcttaaaggatgttc	11	10	11	9	2	1	0	1	0	0	0	3	3	1	3	1	4	3	2	1	4	4	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:134346723C>T	ENST00000393132.2	+	3	953	c.464C>T	c.(463-465)tCg>tTg	p.S155L	BPGM_ENST00000418040.1_Missense_Mutation_p.S155L|BPGM_ENST00000344924.3_Missense_Mutation_p.S155L	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	155					carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CTGCCACGGTCGGAAAGCTTA	0.473																																						uc003vrv.3																			0				breast(1)|endometrium(1)|lung(2)|stomach(1)	5						c.(463-465)tCg>tTg		Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.							81	71	74					7																	134346723		2203	4300	6503	SO:0001583	missense	669				glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chr7:134346723C>T	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.464C>T	7.37:g.134346723C>T	ENSP00000376840:p.Ser155Leu					BPGM_uc003vrw.3_Missense_Mutation_p.S155L	p.S155L	NM_199186	NP_954655	P07738	PMGE_HUMAN			2	1005	+			155					A4D1N9	Missense_Mutation	SNP	ENST00000393132.2	37	c.464C>T	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549768	0.27652	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	4.2	0.49525	Histidine phosphatase superfamily, clade-1 (2);	0.306858	0.41396	D	0.000900	T	0.68677	0.3027	M	0.73962	2.25	0.09310	N	0.999992	D	0.54207	0.965	B	0.36766	0.232	T	0.65615	-0.6125	10	0.62326	D	0.03	-7.9073	16.9575	0.86263	0.0:0.7593:0.2407:0.0	.	155	P07738	PMGE_HUMAN	L	155	ENSP00000342032:S155L;ENSP00000399838:S155L;ENSP00000376840:S155L	ENSP00000342032:S155L	S	+	2	0	BPGM	133997263	0.049000	0.20398	0.301000	0.25044	0.183000	0.23260	3.261000	0.51530	0.862000	0.35528	-0.156000	0.13503	TCG		0.473	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	NM_001724		T	134346723	C	T	134346723	3	4	64	1	0	0	0	0	1	0	0	0	1488	893	31	2	466	2	BPGM	7	134346723	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	79113686	134346723	24791940	14	4224											
SLC34A3	142680	broad.mit.edu	37	chr9	140128961	140128961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagcagcgtcttcaCggcggccgtcgtgcccctca	6	6	13	16	5	3	1	2	0	1	1	4	1	3	1	3	2	4	3	3	2	0	1	rs138798032		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr9:140128961C>T	ENST00000538474.1	+	11	1411	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.T396M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	396					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGCGTCTTCACGGCGGCCGTC	0.721																																						uc022bqf.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1186-1188)aCg>aTg		Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.		C	MET/THR,MET/THR,MET/THR	1,4255		0,1,2127	14	18	17		1187,1187,1187	3.5	0.8	9	dbSNP_134	17	1,8359		0,1,4179	yes	missense,missense,missense	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	81,81,81	0,2,6306	TT,TC,CC		0.012,0.0235,0.0159	probably-damaging,probably-damaging,probably-damaging	396/600,396/600,396/600	140128961	2,12614	2128	4180	6308	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128961C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1187C>T	9.37:g.140128961C>T	ENSP00000442397:p.Thr396Met					SLC34A3_uc011met.2_Missense_Mutation_p.T396M|SLC34A3_uc004cmf.1_Missense_Mutation_p.T396M	p.T396M	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	10	1408	+	all_cancers(76;0.0926)		396					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1187C>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416718	0.62511	2.35E-4	1.2E-4	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.88509	-2.39;-2.39	3.51	3.51	0.40186	.	0.000000	0.53938	D	0.000052	D	0.83317	0.5228	L	0.48260	1.515	0.43824	D	0.996398	P	0.42973	0.796	B	0.35813	0.211	D	0.85389	0.1124	10	0.56958	D	0.05	-10.6698	12.8845	0.58036	0.0:1.0:0.0:0.0	.	396	Q8N130	NPT2C_HUMAN	M	396	ENSP00000442397:T396M;ENSP00000355353:T396M	ENSP00000355353:T396M	T	+	2	0	SLC34A3	139248782	0.998000	0.40836	0.769000	0.31535	0.802000	0.45316	4.273000	0.58914	1.948000	0.56530	0.448000	0.29417	ACG		0.721	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		T	140128961	C	T	140128961	3	4	64	1	0	0	0	0	1	0	0	0	14569	536	19	1	1225	1	SLC34A3	9	140128961	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		140128961	1084470	15	4225											
PHLDA2	7262	broad.mit.edu	37	chr11	2950491	2950491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggggaacaggctcaggCggtcggaggtgagcaccccg	7	4	19	11	4	1	1	1	1	0	0	2	3	1	3	2	8	2	2	2	8	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:2950491C>T	ENST00000314222.4	-	1	194	c.104G>A	c.(103-105)cGc>cAc	p.R35H		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	35	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCTCAGGCGGTCGGAGGT	0.667																																						uc021qci.1																			0				central_nervous_system(1)	1						c.(103-105)cGc>cAc		Homo sapiens pleckstrin homology-like domain, family A, member 2 (PHLDA2), mRNA.							20	22	22					11																	2950491		2195	4297	6492	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950491C>T	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.104G>A	11.37:g.2950491C>T	ENSP00000319231:p.Arg35His					PHLDA2_uc001lxa.1_Missense_Mutation_p.R35H	p.R35H	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	104	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	35			PH.		O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.104G>A	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447581	0.96205	.	.	ENSG00000181649	ENST00000314222	T	0.44083	0.93	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.121887	0.53938	U	0.000053	T	0.50565	0.1623	L	0.57536	1.79	0.39290	D	0.964716	D	0.71674	0.998	P	0.51999	0.687	T	0.61098	-0.7131	10	0.56958	D	0.05	-11.4926	15.3955	0.74790	0.0:1.0:0.0:0.0	.	35	Q53GA4	PHLA2_HUMAN	H	35	ENSP00000319231:R35H	ENSP00000319231:R35H	R	-	2	0	PHLDA2	2907067	1.000000	0.71417	0.979000	0.43373	0.910000	0.53928	6.755000	0.74914	1.660000	0.50760	0.313000	0.20887	CGC		0.667	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		T	2950491	C	T	2950491	3	4	64	1	0	0	0	0	1	0	0	0	11849	768	27	1	358	1	PHLDA2	11	2950491	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		2950491	132056025	16	4226											
OR52J3	119679	broad.mit.edu	37	chr11	5068409	5068409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgctcattggcatctcGtatgtttacattctccgtgc	5	16	9	11	2	3	0	1	0	2	0	5	0	3	0	1	2	3	4	1	2	2	5	rs148600962		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:5068409G>A	ENST00000380370.1	+	1	654	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCATCTCGTATGTTTACA	0.448																																						uc010qyv.2																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(652-654)tcG>tcA		Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.		G		1,4401	2.1+/-5.4	0,1,2200	342	308	319		654	-1.8	0	11	dbSNP_134	319	0,8596		0,0,4298	no	coding-synonymous	OR52J3	NM_001001916.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		218/312	5068409	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068409G>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.654G>A	11.37:g.5068409G>A							p.S218S	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	654	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	218					Q6IFE4	Silent	SNP	ENST00000380370.1	37	c.654G>A	CCDS31370.1																																																																																				0.448	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		A	5068409	G	A	5068409	2	1	64	1	0	0	0	0	0	0	0	1	11122	1132	40	1		1	OR52J3	11	5068409	Silent	SNP	G	TCGA-06-0750-01A-01W-0348-08	2117918	5068409	129938107	17	4227											
OR5P2	120065	broad.mit.edu	37	chr11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgactgttgcaaagaaagccGctgaaccaagctggatggca	13	6	12	10	2	0	2	0	1	0	1	0	4	0	3	2	2	4	5	2	2	4	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:7818191G>A	ENST00000329434.2	-	1	329	c.299C>T	c.(298-300)gCg>gTg	p.A100V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483																																						uc001mfp.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(298-300)gCg>gTg		Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.							99	116	110					11																	7818191		2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818191G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.299C>T	11.37:g.7818191G>A	ENSP00000331823:p.Ala100Val						p.A100V	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	299	-			100					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.299C>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	1.595	-0.528102	0.04112	.	.	ENSG00000183303	ENST00000329434	T	0.00376	7.7	5.5	-3.17	0.05202	GPCR, rhodopsin-like superfamily (1);	0.679936	0.14063	N	0.343953	T	0.00109	0.0003	N	0.01289	-0.905	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.21690	-1.0238	10	0.41790	T	0.15	0.4364	6.3005	0.21109	0.4743:0.2502:0.2755:0.0	.	100	Q8WZ92	OR5P2_HUMAN	V	100	ENSP00000331823:A100V	ENSP00000331823:A100V	A	-	2	0	OR5P2	7774767	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.927000	0.03984	-0.349000	0.08274	0.555000	0.69702	GCG		0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		A	7818191	G	A	7818191	3	1	64	1	0	0	0	0	1	0	0	0	11178	1087	38	1	673	1	OR5P2	11	7818191	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	2749782	7818191	127188325	18	4228											
OR5W2	390148	broad.mit.edu	37	chr11	55681318	55681318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctggaaaattgcaacCgcagataagtgggaagtgca	13	8	12	8	1	0	1	0	0	0	1	1	3	1	3	2	2	3	4	2	2	5	3	rs547924373		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55681318C>T	ENST00000344514.1	-	1	740	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A247A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATTGCAACCGCAGATAAGT	0.403																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			1	Substitution - coding silent(1)	p.A247A(2)	breast(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(739-741)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							83	95	91					11																	55681318		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681318C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.741G>A	11.37:g.55681318C>T							p.A247A	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	741	-			247						Silent	SNP	ENST00000344514.1	37	c.741G>A	CCDS31513.1																																																																																				0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		T	55681318	C	T	55681318	2	4	64	1	0	0	0	0	0	0	0	1	11185	639	23	2		2	OR5W2	11	55681318	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	47863127	55681318	79325198	19	4229											
OR5T2	219464	broad.mit.edu	37	chr11	55999905	55999905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaccataggagatcagaaCaatcaggatagtgaccagct	17	6	9	9	0	2	3	2	1	0	2	2	5	2	4	2	2	3	1	2	2	5	2	rs146086539		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55999905C>T	ENST00000313264.4	-	1	832	c.757G>A	c.(757-759)Gtt>Att	p.V253I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGATCAGAACAATCAGGATA	0.448																																						uc010rjc.2																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(757-759)Gtt>Att		Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.							117	110	113					11																	55999905		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999905C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.757G>A	11.37:g.55999905C>T	ENSP00000323688:p.Val253Ile						p.V253I	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			0	757	-	Esophageal squamous(21;0.00448)		253					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.757G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	4.751	0.139638	0.09083	.	.	ENSG00000181718	ENST00000313264	T	0.00014	9.22	5.07	-0.401	0.12407	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37857	U	0.001913	T	0.00039	0.0001	N	0.00966	-1.09	0.09310	N	1	B	0.21905	0.062	B	0.33960	0.173	T	0.42224	-0.9464	10	0.02654	T	1	.	5.9956	0.19491	0.1264:0.5661:0.0:0.3075	.	253	Q8NGG2	OR5T2_HUMAN	I	253	ENSP00000323688:V253I	ENSP00000323688:V253I	V	-	1	0	OR5T2	55756481	0.000000	0.05858	0.004000	0.12327	0.376000	0.30014	0.008000	0.13197	0.253000	0.21552	0.478000	0.44815	GTT		0.448	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		T	55999905	C	T	55999905	3	4	64	1	0	0	0	0	1	0	0	0	11182	478	17	3	321	3	OR5T2	11	55999905	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	318587	55999905	79006611	20	4230											
PDE2A	5138	broad.mit.edu	37	chr11	72293532	72293532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacgaggggtataggtgaAacttgcaaaattggagtcaa	15	8	14	4	1	1	1	1	1	0	0	1	4	1	3	0	5	3	2	0	5	7	4			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:72293532A>G	ENST00000334456.5	-	21	2052	c.1807T>C	c.(1807-1809)Ttc>Ctc	p.F603L	PDE2A_ENST00000418754.2_Missense_Mutation_p.F488L|PDE2A_ENST00000540345.1_Missense_Mutation_p.F594L|PDE2A_ENST00000544570.1_Missense_Mutation_p.F596L|PDE2A_ENST00000444035.2_Missense_Mutation_p.F594L|PDE2A_ENST00000376450.3_Missense_Mutation_p.F347L|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	603					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GTATAGGTGAAACTTGCAAAA	0.537																																						uc010rrc.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1807-1809)Ttc>Ctc		Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	Sildenafil(DB00203)|Sulindac(DB00605)						102	83	89					11																	72293532		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72293532A>G	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1807T>C	11.37:g.72293532A>G	ENSP00000334910:p.Phe603Leu					PDE2A_uc001oso.3_Missense_Mutation_p.F582L|PDE2A_uc010rra.2_Missense_Mutation_p.F596L|PDE2A_uc001osn.3_Missense_Mutation_p.F347L|PDE2A_uc010rrb.2_Missense_Mutation_p.F594L|PDE2A_uc010rrd.2_Missense_Mutation_p.F488L	p.F603L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		20	2053	-			603					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1807T>C	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363208	0.61513	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.74	4.74	0.60224	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.64402	D	0.000003	T	0.67021	0.2849	L	0.57536	1.79	0.51012	D	0.999903	B;P;P;P;P;P	0.48162	0.096;0.849;0.849;0.906;0.754;0.775	B;B;B;B;B;B	0.37387	0.067;0.177;0.177;0.248;0.177;0.105	T	0.70142	-0.4953	10	0.45353	T	0.12	.	11.6556	0.51315	1.0:0.0:0.0:0.0	.	488;603;594;596;603;347	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	L	603;347;594;672;596;488;594;144;34	ENSP00000334910:F603L;ENSP00000365633:F347L;ENSP00000411657:F594L;ENSP00000442256:F596L;ENSP00000410310:F488L;ENSP00000446399:F594L;ENSP00000392457:F144L;ENSP00000440834:F34L	ENSP00000334910:F603L	F	-	1	0	PDE2A	71971180	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.127000	0.89593	1.784000	0.52394	0.460000	0.39030	TTC		0.537	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		G	72293532	A	G	72293532	3	3	64	1	0	0	0	0	1	0	0	0	11636	14	1	4	1062	4	PDE2A	11	72293532	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08	16293627	72293532	62712984	21	4231											
OR8B4	283162	broad.mit.edu	37	chr11	124294255	124294255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagataatggtcaatgacGttggaatcacagaaggtcag	15	8	11	7	1	3	3	3	1	0	2	3	4	3	4	0	3	0	1	0	3	4	2	rs146995996		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:124294255G>A	ENST00000356130.3	-	1	534	c.513C>T	c.(511-513)aaC>aaT	p.N171N		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCAATGACGTTGGAATCAC	0.512													G|||	1	0.000199681	0	0	5008	,	,		21327	0		0.001	False		,,,				2504	0					uc010sak.2																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(511-513)aaC>aaT		Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.		G		3,4399	4.2+/-10.8	0,3,2198	96	65	75		513	-3	0	11	dbSNP_134	75	5,8593	3.7+/-12.6	0,5,4294	no	coding-synonymous	OR8B4	NM_001005196.1		0,8,6492	AA,AG,GG		0.0582,0.0682,0.0615		171/310	124294255	8,12992	2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294255G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.513C>T	11.37:g.124294255G>A							p.N171N	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	0	513	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	171					B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.513C>T	CCDS31710.1																																																																																				0.512	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		A	124294255	G	A	124294255	2	1	64	1	0	0	0	0	0	0	0	1	11229	1136	40	1		1	OR8B4	11	124294255	Silent	SNP	G	TCGA-06-0750-01A-01W-0348-08	52000723	124294255	10712261	22	4232											
SRPR	6734	broad.mit.edu	37	chr11	126134309	126134309	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctactaaggcttctcCtacaaacagcaccaaatcag	14	9	5	13	0	2	0	1	0	1	0	3	0	2	0	3	1	5	2	3	1	5	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:126134309C>A	ENST00000332118.6	-	12	1805	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	SRPR_ENST00000532259.1_Nonsense_Mutation_p.G523*	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	551					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AAGGCTTCTCCTACAAACAGC	0.517																																						uc001qdh.3																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1651-1653)Gga>Tga		Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.							113	97	102					11																	126134309		2201	4299	6500	SO:0001587	stop_gained	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134309C>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1651G>T	11.37:g.126134309C>A	ENSP00000328023:p.Gly551*					SRPR_uc010sbm.2_Nonsense_Mutation_p.G523*	p.G551*	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	11	1829	-	all_hematologic(175;0.145)		551					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Nonsense_Mutation	SNP	ENST00000332118.6	37	c.1651G>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	39	7.499460	0.98322	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.5111	19.4521	0.94872	0.0:1.0:0.0:0.0	.	.	.	.	X	551;523	.	ENSP00000328023:G551X	G	-	1	0	SRPR	125639519	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.651000	0.83577	2.826000	0.97356	0.637000	0.83480	GGA		0.517	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		A	126134309	C	A	126134309	4	1	64	1	0	0	0	0	0	1	0	0	15161	690	24	5	277	5	SRPR	11	126134309	Nonsense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	1840054	126134309	8872207	23	4233											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057129	72057129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacgcgtgccgcgagcGtgagaaattcctcagctgct	8	8	12	13	5	2	2	2	1	0	2	3	4	3	2	2	0	4	2	2	0	1	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:72057129G>A	ENST00000378743.3	-	1	620	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R88C|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R88C|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	88	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCCGCGAGCGTGAGAAATTC	0.652											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(262-264)Cgc>Tgc		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							59	67	64					12																	72057129		1965	4150	6115	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057129G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.262C>T	12.37:g.72057129G>A	ENSP00000368017:p.Arg88Cys		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.2_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.3_Missense_Mutation_p.R88C|THAP2_uc001swq.3_5'Flank	p.R88C	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			0	621	-			88			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.262C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470943	0.63625	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35421	1.31	4.09	4.09	0.47781	.	0.107907	0.38605	N	0.001639	T	0.40719	0.1128	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.64595	0.927;0.927;0.551	T	0.48514	-0.9029	10	0.72032	D	0.01	.	15.0106	0.71547	0.0:0.0:1.0:0.0	.	88;88;88	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	C	88	ENSP00000368017:R88C	ENSP00000368017:R88C	R	-	1	0	ZFC3H1	70343396	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.762000	0.68809	2.276000	0.75962	0.455000	0.32223	CGC		0.652	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		A	72057129	G	A	72057129	3	1	64	1	0	0	0	0	1	0	0	0	17630	1145	40	1	5847	1	ZFC3H1	12	72057129	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		72057129	61794766	24	4234											
NR1H4	9971	broad.mit.edu	37	chr12	100904745	100904745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatatatgaactcaggcGtatgccagctgagactctct	11	11	10	9	1	2	2	1	2	1	1	3	4	2	3	1	2	3	2	1	2	5	3	rs113431969		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:100904745G>A	ENST00000551379.1	+	2	327	c.299G>A	c.(298-300)cGt>cAt	p.R100H	NR1H4_ENST00000549996.1_Missense_Mutation_p.R90H|NR1H4_ENST00000188403.7_Missense_Mutation_p.R100H|NR1H4_ENST00000392986.3_Missense_Mutation_p.R90H|NR1H4_ENST00000548884.1_Missense_Mutation_p.R90H			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	100					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GAACTCAGGCGTATGCCAGCT	0.522																																						uc001tht.2																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(298-300)cGt>cAt		Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.							75	76	75					12																	100904745		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904745G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.299G>A	12.37:g.100904745G>A	ENSP00000447149:p.Arg100His					NR1H4_uc001thq.2_Missense_Mutation_p.R90H|NR1H4_uc001thp.2_Missense_Mutation_p.R90H|NR1H4_uc001thr.2_Missense_Mutation_p.R90H|NR1H4_uc010svk.2_Missense_Mutation_p.R90H|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R100H	p.R100H	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN			1	327	+			100					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.299G>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956705	0.53293	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.93426	-3.0;-3.05;-3.22;-3.08;-3.02	5.9	5.0	0.66597	.	0.109563	0.64402	D	0.000007	D	0.91432	0.7296	L	0.29908	0.895	0.46260	D	0.998955	D;P;P;D;D	0.69078	0.997;0.841;0.943;0.972;0.978	P;P;P;P;B	0.53593	0.73;0.482;0.534;0.456;0.411	D	0.90222	0.4272	10	0.37606	T	0.19	.	11.2985	0.49292	0.068:0.1285:0.8035:0.0	.	90;100;100;90;90	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	H	90;90;90;100;100	ENSP00000448506:R90H;ENSP00000376712:R90H;ENSP00000448978:R90H;ENSP00000447149:R100H;ENSP00000188403:R100H	ENSP00000188403:R100H	R	+	2	0	NR1H4	99428876	1.000000	0.71417	0.993000	0.49108	0.333000	0.28666	4.775000	0.62346	1.477000	0.48234	0.650000	0.86243	CGT		0.522	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		A	100904745	G	A	100904745	3	1	64	1	0	0	0	0	1	0	0	0	10619	1145	40	1	275	1	NR1H4	12	100904745	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	28847616	100904745	32947150	25	4235											
GABRA5	2558	broad.mit.edu	37	chr15	27114460	27114460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcttttgtatttccaTgaacttatccagtcactttg	7	19	4	11	0	2	1	1	1	1	0	5	1	4	1	3	0	1	1	3	0	3	7			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:27114460T>C	ENST00000335625.5	+	3	953	c.65T>C	c.(64-66)aTg>aCg	p.M22T	GABRA5_ENST00000400081.3_Missense_Mutation_p.M22T|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.M22T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	22					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGTATTTCCATGAACTTATCC	0.388																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(64-66)aTg>aCg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						193	188	190					15																	27114460		1910	4135	6045	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27114460T>C		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.65T>C	15.37:g.27114460T>C	ENSP00000335592:p.Met22Thr					GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.M22T	p.M22T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	2	597	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	22					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.65T>C	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.546279	0.45383	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.79749	-0.46;-0.46;-0.46;-1.01;-0.98;-1.3	5.82	5.82	0.92795	.	0.323684	0.35096	N	0.003459	T	0.63780	0.2540	N	0.08118	0	0.37034	D	0.896846	B	0.02656	0.0	B	0.01281	0.0	T	0.63765	-0.6563	10	0.32370	T	0.25	.	12.5835	0.56403	0.0:0.0:0.0:1.0	.	22	P31644	GBRA5_HUMAN	T	22	ENSP00000335592:M22T;ENSP00000347557:M22T;ENSP00000382953:M22T;ENSP00000451527:M22T;ENSP00000450806:M22T;ENSP00000450717:M22T	ENSP00000335592:M22T	M	+	2	0	GABRA5	24665553	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.380000	0.59581	2.216000	0.71823	0.533000	0.62120	ATG		0.388	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			C	27114460	T	C	27114460	3	2	64	1	0	0	0	0	1	0	0	0	6164	1464	51	4	67	4	GABRA5	15	27114460	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08		27114460	75416932	26	4236											
CHSY1	22856	broad.mit.edu	37	chr15	101718018	101718018	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaatctttgggtcatactGgctgaagatgattggaaaat	14	12	10	5	0	2	3	1	2	1	1	2	4	2	4	0	3	2	1	0	3	6	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:101718018G>A	ENST00000254190.3	-	3	2459	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	662					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGTCATACTGGCTGAAGATG	0.428																																						uc021sxt.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1984-1986)Cag>Tag		Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.							71	76	74					15																	101718018		2203	4299	6502	SO:0001587	stop_gained	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718018G>A	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1984C>T	15.37:g.101718018G>A	ENSP00000254190:p.Gln662*					CHSY1_uc010usd.2_Nonsense_Mutation_p.Q390*	p.Q662*	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	2460	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		662					Q6UX38|Q7LFU5|Q9Y2J5	Nonsense_Mutation	SNP	ENST00000254190.3	37	c.1984C>T	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	42	9.533345	0.99198	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-38.6355	19.8119	0.96549	0.0:0.0:1.0:0.0	.	.	.	.	X	662;390	.	ENSP00000254190:Q662X	Q	-	1	0	CHSY1	99535541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.617000	0.98361	2.664000	0.90586	0.655000	0.94253	CAG		0.428	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		A	101718018	G	A	101718018	4	1	64	1	0	0	0	0	0	1	0	0	3412	1357	47	3	428	3	CHSY1	15	101718018	Nonsense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	74603558	101718018	813374	27	4237											
RLTPR	146206	broad.mit.edu	37	chr16	67683416	67683417	+	Frame_Shift_Ins	INS	-	-	T																															cagcgtcctactccgggcccINStagccaccaatcctaacctg																										TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:67683416_67683417insT	ENST00000334583.6	+	20	2141_2142	c.1813_1814insT	c.(1813-1815)ctafs	p.L605fs	RLTPR_ENST00000545661.1_Frame_Shift_Ins_p.L569fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	605	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACTCCGGGCCCTAGCCACCAAT	0.629																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1813-1815)ctafs		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.																																				SO:0001589	frameshift_variant	146206							g.chr16:67683416_67683417insT	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1814dupT	16.37:g.67683417_67683417dupT	ENSP00000334958:p.Leu605fs					RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.2_Frame_Shift_Ins_p.L569fs	p.L605fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	1933_1934	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	605			Tropomodulin-like.		B8X2Z3	Frame_Shift_Ins	INS	ENST00000334583.6	37	c.1813_1814insT	CCDS45513.1																																																																																				0.629	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67683417	-	T	67683416	7	5	64	1	0	1	1	0	0	0	0	0	13394	680	24	0	1891	0	RLTPR	16	67683416	Frame_Shift_Ins	INS	-	TCGA-06-0750-01A-01W-0348-08		67683416	22671337	28	4238											
DPEP1	1800	broad.mit.edu	37	chr16	89704306	89704306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcgctgagctgctcaggaGgaactggacggaggcggagg	9	5	19	8	3	1	1	1	1	0	0	2	7	1	6	0	7	3	3	0	7	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:89704306G>A	ENST00000393092.3	+	10	1283	c.992G>A	c.(991-993)aGg>aAg	p.R331K	DPEP1_ENST00000261615.4_Missense_Mutation_p.R331K|DPEP1_ENST00000421184.1_Missense_Mutation_p.R331K	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	331					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGCTCAGGAGGAACTGGACG	0.627																																						uc010cin.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(991-993)aGg>aAg		Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	Cilastatin(DB01597)						78	84	82					16																	89704306		2187	4293	6480	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89704306G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.992G>A	16.37:g.89704306G>A	ENSP00000376807:p.Arg331Lys					DPEP1_uc002fnr.4_Missense_Mutation_p.R331K|DPEP1_uc002fns.4_Missense_Mutation_p.R331K	p.R331K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	9	1195	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	331					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.992G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	35	5.559731	0.96514	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.26518	1.73;1.73;1.73	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.89214	3.015	0.51233	D	0.999916	P	0.42620	0.785	P	0.59595	0.86	T	0.62760	-0.6786	10	0.62326	D	0.03	-25.799	19.0565	0.93067	0.0:0.0:1.0:0.0	.	331	P16444	DPEP1_HUMAN	K	331	ENSP00000397313:R331K;ENSP00000376807:R331K;ENSP00000261615:R331K	ENSP00000261615:R331K	R	+	2	0	DPEP1	88231807	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	7.416000	0.80143	2.601000	0.87937	0.556000	0.70494	AGG		0.627	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		A	89704306	G	A	89704306	3	1	64	1	0	0	0	0	1	0	0	0	4713	1000	35	3	1026	3	DPEP1	16	89704306	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	22020890	89704306	650447	29	4239											
FXR2	9513	broad.mit.edu	37	chr17	7495610	7495610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttctgagggtttagtgcGttccaggggtggcctctggc	3	13	16	9	1	3	1	0	1	3	0	4	1	4	1	2	5	1	2	2	5	1	4			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:7495610G>A	ENST00000250113.7	-	16	2222	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000250055.2_5'Flank|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	630						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R630C(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGTTTAGTGCGTTCCAGGGGT	0.522																																						uc002gia.2																			1	Substitution - Missense(1)	p.R630C(2)	endometrium(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1888-1890)Cgc>Tgc		Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.							130	130	130					17																	7495610		1973	4173	6146	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495610G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1888C>T	17.37:g.7495610G>A	ENSP00000250113:p.Arg630Cys					MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	p.R630C	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2253	-			630					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1888C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483534	0.44147	.	.	ENSG00000129245	ENST00000250113	T	0.37411	1.2	4.89	4.89	0.63831	.	0.472069	0.23310	N	0.049569	T	0.18425	0.0442	N	0.08118	0	0.48511	D	0.999663	P	0.51537	0.946	B	0.34346	0.18	T	0.15464	-1.0436	10	0.72032	D	0.01	-23.3396	15.9292	0.79646	0.0:0.0:1.0:0.0	.	630	P51116	FXR2_HUMAN	C	630	ENSP00000250113:R630C	ENSP00000250113:R630C	R	-	1	0	FXR2	7436335	0.849000	0.29639	1.000000	0.80357	0.986000	0.74619	0.875000	0.28079	2.709000	0.92574	0.655000	0.94253	CGC		0.522	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			A	7495610	G	A	7495610	3	1	64	1	0	0	0	0	1	0	0	0	6116	1145	40	1	41	1	FXR2	17	7495610	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		7495610	73699600	30	4240											
FKBP10	60681	broad.mit.edu	37	chr17	39975472	39975472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttccccagggacagtgatCcccccacaggcctcgctggt	6	7	10	18	1	0	1	0	1	0	0	3	2	2	2	7	3	0	1	7	3	0	1	rs573865037		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:39975472C>T	ENST00000321562.4	+	5	842	c.738C>T	c.(736-738)atC>atT	p.I246I	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	246	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACAGTGATCCCCCCACAGG	0.607													C|||	1	0.000199681	0	0	5008	,	,		15171	0		0	False		,,,				2504	0.001					uc002hxv.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(736-738)atC>atT		Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.							75	73	73					17																	39975472		2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39975472C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.738C>T	17.37:g.39975472C>T						FKBP10_uc002hxw.1_5'UTR	p.I246I	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	4	1063	+		Breast(137;0.00122)	246			PPIase FKBP-type 2.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.738C>T	CCDS11409.1																																																																																				0.607	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		T	39975472	C	T	39975472	2	4	64	1	0	0	0	0	0	0	0	1	5902	845	30	3		3	FKBP10	17	39975472	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	32479862	39975472	41219738	31	4241											
NPEPPS	9520	broad.mit.edu	37	chr17	45681356	45681356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtttattaccaggcattCgtgacctttctctgccccct	8	14	6	13	1	1	1	0	1	1	0	3	1	1	1	4	1	2	2	4	1	3	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:45681356C>T	ENST00000322157.4	+	16	2053	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R602C|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R526C	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	606					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACCAGGCATTCGTGACCTTTC	0.433																																						uc002ilr.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1816-1818)Cgt>Tgt		Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.							115	108	110					17																	45681356		1926	4126	6052	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45681356C>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1816C>T	17.37:g.45681356C>T	ENSP00000320324:p.Arg606Cys					NPEPPS_uc010wkt.2_Missense_Mutation_p.R602C|NPEPPS_uc010wku.2_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.2_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C	p.R606C	NM_006310	NP_006301	P55786	PSA_HUMAN			15	2039	+			606					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1816C>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346633	0.82022	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.05513	3.43;3.43;3.43	5.73	4.73	0.59995	.	0.049822	0.85682	D	0.000000	T	0.16342	0.0393	L	0.52573	1.65	0.80722	D	1	D;D;D	0.67145	0.996;0.978;0.996	P;P;P	0.58970	0.849;0.773;0.849	T	0.00069	-1.2137	10	0.72032	D	0.01	.	14.8616	0.70387	0.257:0.743:0.0:0.0	.	602;289;606	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	C	602;606;593;526	ENSP00000433287:R602C;ENSP00000320324:R606C;ENSP00000442461:R526C	ENSP00000320324:R606C	R	+	1	0	NPEPPS	43036355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.454000	0.35178	2.716000	0.92895	0.561000	0.74099	CGT		0.433	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		T	45681356	C	T	45681356	3	4	64	1	0	0	0	0	1	0	0	0	10575	884	31	2	1878	2	NPEPPS	17	45681356	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	5705884	45681356	35513854	32	4242											
DSG1	1828	broad.mit.edu	37	chr18	28934664	28934664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctgggctatggtaatgtCactgtgaccgagtcttacac	8	12	10	11	1	3	1	1	1	2	0	3	2	3	1	2	2	1	2	2	2	3	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:28934664C>T	ENST00000257192.4	+	15	2717	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	DSG1_ENST00000462981.2_Silent_p.V194V|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	835					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGTAATGTCACTGTGACCG	0.512																																						uc002kwp.3																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2503-2505)gtC>gtT		Homo sapiens desmoglein 1 (DSG1), mRNA.							229	191	204					18																	28934664		2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934664C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2505C>T	18.37:g.28934664C>T						DSG1_uc010xbp.2_Silent_p.V194V	p.V835V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		14	2717	+			835					B7Z845	Silent	SNP	ENST00000257192.4	37	c.2505C>T	CCDS11896.1																																																																																				0.512	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28934664	C	T	28934664	2	4	64	1	0	0	0	0	0	0	0	1	4776	813	29	3		3	DSG1	18	28934664	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		28934664	49142584	33	4243											
SLC14A2	8170	broad.mit.edu	37	chr18	43212315	43212315	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagtctgtttcaccgccagGtctgccattgcctcaggact	6	12	9	14	1	5	0	3	0	2	0	5	1	5	1	4	2	2	1	4	2	0	2			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:43212315G>T	ENST00000255226.6	+	5	1338	c.522G>T	c.(520-522)agG>agT	p.R174S	SLC14A2_ENST00000586448.1_Splice_Site_p.R174S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	174					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACCGCCAGGTCTGCCATTG	0.512																																						uc002lbe.3																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e5-1		Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.							199	170	180					18																	43212315		2203	4300	6503	SO:0001630	splice_region_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43212315G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.522-1G>T	18.37:g.43212315G>T						SLC14A2_uc002lbb.3_Splice_Site_p.R174_splice|SLC14A2_uc010dnj.3_Splice_Site_p.R174_splice	p.R174_splice	NM_007163	NP_009094	Q15849	UT2_HUMAN			5	1338	+			174					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.522_splice	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079486	0.55753	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.51071	0.72;0.72	4.65	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.80183	2.485	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67577	-0.5635	9	.	.	.	.	8.9438	0.35747	0.2365:0.0:0.7635:0.0	.	174;174	Q15849;E7EPU1	UT2_HUMAN;.	S	174	ENSP00000255226:R174S;ENSP00000320689:R174S	.	R	+	3	2	SLC14A2	41466313	1.000000	0.71417	0.947000	0.38551	0.655000	0.38815	3.860000	0.55995	1.312000	0.45043	0.563000	0.77884	AGG		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Missense_Mutation	T	43212315	G	T	43212315	5	4	64	1	0	0	0	0	0	0	1	0	14397	1275	44	5	536	5	SLC14A2	18	43212315	Splice_Site	SNP	G	TCGA-06-0750-01A-01W-0348-08	14277651	43212315	34864933	34	4244											
MC4R	4160	broad.mit.edu	37	chr18	58038973	58038973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccatgagagccagcaTggtgaagaacatggtgatga	15	6	14	6	0	0	6	0	4	0	3	0	7	0	6	2	2	4	1	2	2	3	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:58038973T>A	ENST00000299766.3	-	1	1028	c.610A>T	c.(610-612)Atg>Ttg	p.M204L		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	204					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGAGCCAGCATGGTGAAGAAC	0.498																																						uc002lie.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(610-612)Atg>Ttg		Homo sapiens melanocortin 4 receptor (MC4R), mRNA.							84	77	79					18																	58038973		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038973T>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.610A>T	18.37:g.58038973T>A	ENSP00000299766:p.Met204Leu						p.M204L	NM_005912	NP_005903	P32245	MC4R_HUMAN			0	1029	-		Colorectal(73;0.0946)	204					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.610A>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218678	0.58560	.	.	ENSG00000166603	ENST00000299766	T	0.35789	1.29	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.66439	2.03	0.58432	D	0.999999	B	0.14012	0.009	B	0.20384	0.029	T	0.28776	-1.0033	10	0.66056	D	0.02	.	14.1876	0.65617	0.0:0.0:0.0:1.0	.	204	P32245	MC4R_HUMAN	L	204	ENSP00000299766:M204L	ENSP00000299766:M204L	M	-	1	0	MC4R	56189953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.238000	0.73509	0.533000	0.62120	ATG		0.498	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		A	58038973	T	A	58038973	3	1	64	1	0	0	0	0	1	0	0	0	9366	1464	51	5	392	5	MC4R	18	58038973	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08	14826658	58038973	20038275	35	4245											
C18orf22	79863	broad.mit.edu	37	chr18	77796687	77796687	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaaaggtttggtatgaaAgtccttccttgggttctcac	11	13	10	7	0	1	1	1	1	1	0	4	2	3	1	2	3	0	3	2	3	5	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:77796687A>C	ENST00000306735.5	+	2	316	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank|TXNL4A_ENST00000585474.1_5'Flank|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.S60R|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	60					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTGGTATGAAAGTCCTTCCTT	0.378																																						uc002lns.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(178-180)Agt>Cgt		Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							122	118	120					18																	77796687		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77796687A>C	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.178A>C	18.37:g.77796687A>C	ENSP00000305696:p.Ser60Arg					TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.S60R|RBFA_uc010dri.2_Intron	p.S60R	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN			1	328	+			60					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.178A>C	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265483	0.23136	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.42900	0.96;0.96	4.04	-1.28	0.09318	.	0.487586	0.18851	N	0.129383	T	0.26955	0.0660	L	0.27053	0.805	0.27903	N	0.938902	P;P	0.40875	0.731;0.694	B;B	0.41088	0.347;0.244	T	0.17776	-1.0358	10	0.45353	T	0.12	-10.6472	7.8775	0.29603	0.6811:0.0:0.3189:0.0	.	60;60	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	R	60	ENSP00000262197:S60R;ENSP00000305696:S60R	ENSP00000262197:S60R	S	+	1	0	RBFA	75897675	1.000000	0.71417	0.905000	0.35620	0.652000	0.38707	0.809000	0.27168	-0.171000	0.10797	-0.232000	0.12228	AGT		0.378	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		C	77796687	A	C	77796687	3	2	64	1	0	0	0	0	1	0	0	0	1898	72	3	5	184	5	C18orf22	18	77796687	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08	19757714	77796687	280561	36	4246											
MAP1S	55201	broad.mit.edu	37	chr19	17844106	17844106	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcccacctggtggatGaggagttcttccagcgcgtg	6	8	15	12	3	1	1	0	1	1	0	2	3	2	3	3	3	2	2	3	3	0	2			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:17844106G>T	ENST00000324096.4	+	6	3044	c.2893G>T	c.(2893-2895)Gag>Tag	p.E965*	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Nonsense_Mutation_p.E939*	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	965	Necessary for association with actin. {ECO:0000250}.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.E965*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCTGGTGGATGAGGAGTTCTT	0.697																																						uc002nhe.1																			1	Substitution - Nonsense(1)	p.E965*(2)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2893-2895)Gag>Tag		Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.							34	28	30					19																	17844106		2195	4297	6492	SO:0001587	stop_gained	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17844106G>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2893G>T	19.37:g.17844106G>T	ENSP00000325313:p.Glu965*					MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939*	p.E965*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	2902	+			965			Necessary for association with actin (By similarity).|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Nonsense_Mutation	SNP	ENST00000324096.4	37	c.2893G>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213012	0.79352	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	.	.	.	4.63	-9.26	0.00662	.	0.544163	0.15133	N	0.278749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.8866	7.0315	0.24970	0.3149:0.4271:0.258:0.0	.	.	.	.	X	965;939	.	ENSP00000325313:E965X	E	+	1	0	MAP1S	17705106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.073000	0.11468	-2.421000	0.00563	-1.058000	0.02302	GAG		0.697	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17844106	G	T	17844106	4	4	64	1	0	0	0	0	0	1	0	0	9234	1291	45	5	2915	5	MAP1S	19	17844106	Nonsense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		17844106	41284877	37	4247											
ZNF98	148198	broad.mit.edu	37	chr19	22574462	22574462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaggagttgttaaaggcTttgccgcattcttcacactt	10	14	9	8	1	2	1	1	0	1	1	2	2	2	2	1	2	1	4	1	2	3	7			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:22574462T>A	ENST00000357774.5	-	4	1696	c.1575A>T	c.(1573-1575)aaA>aaT	p.K525N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTTAAAGGCTTTGCCGCATT	0.388																																						uc002nqt.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1573-1575)aaA>aaT		Homo sapiens zinc finger protein 98 (ZNF98), mRNA.							69	58	62					19																	22574462		2170	4271	6441	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574462T>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1575A>T	19.37:g.22574462T>A	ENSP00000350418:p.Lys525Asn						p.K525N	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			3	1697	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	525						Missense_Mutation	SNP	ENST00000357774.5	37	c.1575A>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	12.00	1.807531	0.31961	.	.	ENSG00000197360	ENST00000357774	T	0.27890	1.64	1.39	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46288	0.1385	M	0.79011	2.435	0.21020	N	0.999804	P	0.51653	0.947	P	0.56648	0.803	T	0.25082	-1.0142	9	0.59425	D	0.04	.	7.6384	0.28280	0.0:0.0:0.0:1.0	.	525	A6NK75	ZNF98_HUMAN	N	525	ENSP00000350418:K525N	ENSP00000350418:K525N	K	-	3	2	ZNF98	22366302	0.084000	0.21492	0.211000	0.23655	0.367000	0.29736	0.238000	0.18004	0.627000	0.30340	0.240000	0.17902	AAA		0.388	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		A	22574462	T	A	22574462	3	1	64	1	0	0	0	0	1	0	0	0	18200	1606	56	5	147	5	ZNF98	19	22574462	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08	4730356	22574462	36554521	38	4248											
CD37	951	broad.mit.edu	37	chr19	49840274	49840274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggccctcaaggagctccGctgcctcctgggcctggtga	4	7	16	14	1	1	1	1	1	0	0	3	2	3	2	5	5	2	2	5	5	1	0	rs375511347		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:49840274G>A	ENST00000323906.4	+	3	392	c.251G>A	c.(250-252)cGc>cAc	p.R84H	CD37_ENST00000598095.1_Missense_Mutation_p.R16H|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Missense_Mutation_p.R84H|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_Missense_Mutation_p.R16H	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	84					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		AAGGAGCTCCGCTGCCTCCTG	0.622																																						uc002pnd.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(250-252)cGc>cAc		Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	65	60	61		47,251	3.5	1	19		61	0,8600		0,0,4300	no	missense,missense	CD37	NM_001040031.1,NM_001774.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	16/214,84/282	49840274	1,13005	2203	4300	6503	SO:0001583	missense	951					integral to membrane		g.chr19:49840274G>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"CD molecules", "Tetraspanins"	1666	protein-coding gene	gene with protein product		151523	"CD37 antigen"			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.251G>A	19.37:g.49840274G>A	ENSP00000325708:p.Arg84His					AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.3_Missense_Mutation_p.R16H	p.R84H	NM_001774	NP_001035120	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	2	372	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	84					B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.251G>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959755	0.74016	2.27E-4	0.0	ENSG00000104894	ENST00000391859;ENST00000323906;ENST00000426897;ENST00000535669	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	4.55	3.49	0.39957	Tetraspanin, conserved site (1);	0.289185	0.25456	N	0.030552	D	0.87625	0.6224	M	0.74881	2.28	0.45194	D	0.998208	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.83275	0.996;0.916;0.916;0.916	D	0.86637	0.1889	10	0.46703	T	0.11	.	10.8912	0.46996	0.0:0.1913:0.8087:0.0	.	16;84;84;84	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	H	84;84;16;84	ENSP00000375732:R84H;ENSP00000325708:R84H;ENSP00000413151:R16H;ENSP00000441037:R84H	ENSP00000325708:R84H	R	+	2	0	CD37	54532086	0.190000	0.23276	0.994000	0.49952	0.757000	0.42996	1.021000	0.30040	1.049000	0.40321	0.467000	0.42956	CGC		0.622	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			A	49840274	G	A	49840274	3	1	64	1	0	0	0	0	1	0	0	0	3008	1087	38	1	261	1	CD37	19	49840274	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	27265812	49840274	9288709	39	4249											
C20orf185	359710	broad.mit.edu	37	chr20	31656654	31656654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaactcctactgttcctgCgggtgagggaagctcccacg	8	8	12	13	2	0	1	0	1	0	0	3	2	3	2	3	2	5	3	3	2	3	2	rs199722228		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:31656654C>T	ENST00000375494.3	+	10	1024	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	342					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ACTGTTCCTGCGGGTGAGGGA	0.577																																						uc002wym.1																			0											c.(1024-1026)Cgg>Tgg		Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.							104	76	85					20																	31656654		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31656654C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1024C>T	20.37:g.31656654C>T	ENSP00000364643:p.Arg342Trp						p.R342W	NM_182658	NP_872599	P59826	LPLC3_HUMAN			9	1024	+			342					Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.1024C>T	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042148	0.35989	.	.	ENSG00000186190	ENST00000375494	T	0.09073	3.02	4.24	-0.563	0.11778	.	0.000000	0.46145	D	0.000308	T	0.18593	0.0446	M	0.75264	2.295	0.32997	D	0.525717	D	0.76494	0.999	D	0.63033	0.91	T	0.14200	-1.0481	10	0.72032	D	0.01	-22.3231	5.2012	0.15264	0.5059:0.3903:0.0:0.1037	.	342	P59826	BPIB3_HUMAN	W	342	ENSP00000364643:R342W	ENSP00000364643:R342W	R	+	1	2	BPIFB3	31120315	1.000000	0.71417	0.858000	0.33744	0.155000	0.21991	0.647000	0.24812	0.131000	0.18576	0.585000	0.79938	CGG		0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		T	31656654	C	T	31656654	3	4	64	1	0	0	0	0	1	0	0	0	2097	759	27	1	1062	1	C20orf185	20	31656654	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		31656654	31368866	40	4250											
PHF20	51230	broad.mit.edu	37	chr20	34487354	34487354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaccagctgtcgacctaGaccataagtttagatgcaaa	14	9	8	10	1	0	2	0	0	0	2	1	3	0	2	3	0	3	4	3	0	4	4			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:34487354G>T	ENST00000374012.3	+	10	1474	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	449					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTCGACCTAGACCATAAGTT	0.348																																						uc002xek.1																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1345-1347)Gac>Tac		Homo sapiens PHD finger protein 20 (PHF20), mRNA.							62	60	61					20																	34487354		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34487354G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1345G>T	20.37:g.34487354G>T	ENSP00000363124:p.Asp449Tyr					PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y	p.D449Y	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			9	1456	+	Breast(12;0.00631)|all_lung(11;0.0145)		449					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1345G>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812196	0.70797	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.66995	0.5;-0.24;-0.24	5.93	2.85	0.33270	.	0.092333	0.64402	D	0.000001	T	0.67933	0.2946	M	0.62723	1.935	0.80722	D	1	P;D	0.61697	0.454;0.99	B;P	0.50659	0.17;0.647	T	0.67662	-0.5613	10	0.87932	D	0	.	8.5129	0.33229	0.1439:0.1256:0.7305:0.0	.	449;449	Q9BVI0;Q66K49	PHF20_HUMAN;.	Y	449	ENSP00000363124:D449Y;ENSP00000341900:D449Y;ENSP00000363112:D449Y	ENSP00000341900:D449Y	D	+	1	0	PHF20	33950768	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	6.167000	0.71902	0.366000	0.24427	0.591000	0.81541	GAC		0.348	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34487354	G	T	34487354	3	4	64	1	0	0	0	0	1	0	0	0	11831	942	33	5	1379	5	PHF20	20	34487354	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	2830700	34487354	28538166	41	4251											
TMPRSS3	64699	broad.mit.edu	37	chr21	43803180	43803180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgatgatccacaggggCgtgatgacagagcccccgca	10	5	14	12	2	0	5	0	4	0	1	1	5	1	5	3	2	1	2	3	2	0	0	rs369903582		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr21:43803180C>T	ENST00000291532.3	-	8	1699	c.744G>A	c.(742-744)acG>acA	p.T248T	TMPRSS3_ENST00000398405.1_Silent_p.T246T|TMPRSS3_ENST00000380399.1_Silent_p.T332T|TMPRSS3_ENST00000398397.3_Silent_p.T248T|TMPRSS3_ENST00000433957.2_Silent_p.T248T|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	248	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCACAGGGGCGTGATGACAG	0.602																																						uc002zbb.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(742-744)acG>acA		Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.		C	,	0,4406		0,0,2203	77	65	69		744,744	-11	0	21		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMPRSS3	NM_024022.2,NM_032405.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	248/455,248/345	43803180	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43803180C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.744G>A	21.37:g.43803180C>T						TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T121T|TMPRSS3_uc002zba.2_Silent_p.T121T|TMPRSS3_uc002zbc.2_Silent_p.T248T|TMPRSS3_uc002zbd.3_Silent_p.T248T	p.T248T	NM_024022	NP_076927	P57727	TMPS3_HUMAN			7	945	-			248			Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.744G>A	CCDS13686.1																																																																																				0.602	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			T	43803180	C	T	43803180	2	4	64	1	0	0	0	0	0	0	0	1	16245	755	27	1		1	TMPRSS3	21	43803180	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		43803180	4326715	42	4252											
GGT5	2687	broad.mit.edu	37	chr22	24622188	24622188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccatcgatctgttggCggatgagctgggccagggtc	5	8	16	12	3	1	1	0	1	1	0	3	3	1	2	3	5	1	2	3	5	0	1	rs149456868	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr22:24622188C>T	ENST00000327365.4	-	8	1501	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	GGT5_ENST00000418439.2_Missense_Mutation_p.R285H|GGT5_ENST00000263112.7_Missense_Mutation_p.R330H|GGT5_ENST00000398292.3_Missense_Mutation_p.R362H	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	362					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GATCTGTTGGCGGATGAGCTG	0.692													C|||	2	0.000399361	0.0015	0	5008	,	,		12269	0		0	False		,,,				2504	0					uc002zzp.4																			0		p.R362C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1084-1086)cGc>cAc		Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	31	36	34		1085,989,1085	3.5	0.9	22	dbSNP_134	34	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	362/588,330/555,362/587	24622188	1,13003	2203	4299	6502	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622188C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1085G>A	22.37:g.24622188C>T	ENSP00000330080:p.Arg362His					GGT5_uc002zzo.4_Missense_Mutation_p.R362H|GGT5_uc002zzr.4_Missense_Mutation_p.R330H|GGT5_uc002zzq.4_Missense_Mutation_p.R330H|GGT5_uc011ajm.2_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_Non-coding_Transcript	p.R362H	NM_001099781	NP_001093251	P36269	GGT5_HUMAN			7	1502	-			362					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1085G>A	CCDS13825.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	15.56	2.870233	0.51588	0.0	1.16E-4	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.51	3.48	0.39840	.	0.057958	0.64402	D	0.000002	T	0.25195	0.0612	M	0.91663	3.23	0.47905	D	0.999547	D;D;D;D;D	0.89917	1.0;0.99;1.0;0.997;1.0	D;P;D;P;D	0.83275	0.993;0.764;0.996;0.881;0.996	T	0.12734	-1.0536	10	0.87932	D	0	-30.0248	9.9128	0.41417	0.0:0.8971:0.0:0.1029	.	285;330;362;362;362	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	H	362;330;277;362;285	ENSP00000330080:R362H;ENSP00000263112:R330H;ENSP00000381340:R362H;ENSP00000392146:R285H	ENSP00000263112:R330H	R	-	2	0	GGT5	22952188	0.012000	0.17670	0.919000	0.36401	0.077000	0.17291	0.885000	0.28227	2.262000	0.75019	0.485000	0.47835	CGC		0.692	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		T	24622188	C	T	24622188	3	4	64	1	0	0	0	0	1	0	0	0	6362	768	27	1	698	1	GGT5	22	24622188	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		24622188	26682378	43	4253											
DMD	1756	broad.mit.edu	37	chrX	32663088	32663088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttttagtttacctcatgaGtatgaaactggtctttcacc	9	16	7	9	1	3	2	2	2	1	0	3	2	3	2	2	1	2	3	2	1	4	6			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:32663088G>C	ENST00000357033.4	-	10	1348	c.1142C>G	c.(1141-1143)aCt>aGt	p.T381S	DMD_ENST00000288447.4_Missense_Mutation_p.T373S|DMD_ENST00000378677.2_Missense_Mutation_p.T377S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	381					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTCATGAGTATGAAACTG	0.353																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(1141-1143)aCt>aGt		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							202	170	181					X																	32663088		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32663088G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1142C>G	X.37:g.32663088G>C	ENSP00000354923:p.Thr381Ser					DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S	p.T381S	NM_004006	NP_004001	P11532	DMD_HUMAN			9	1386	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	381					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1142C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401917	0.42613	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50001	0.76;0.76;0.76	5.52	5.52	0.82312	.	0.191622	0.24256	U	0.040138	T	0.48660	0.1512	M	0.64170	1.965	0.80722	D	1	B;P;B;B;B	0.40000	0.394;0.698;0.144;0.016;0.174	B;B;B;B;B	0.41946	0.223;0.371;0.066;0.102;0.109	T	0.48456	-0.9034	10	0.41790	T	0.15	.	12.1871	0.54245	0.0802:0.0:0.9198:0.0	.	377;373;373;381;377	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	S	373;377;381;381;258;373	ENSP00000367948:T377S;ENSP00000354923:T381S;ENSP00000288447:T373S	ENSP00000288447:T373S	T	-	2	0	DMD	32573009	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	7.844000	0.86867	2.458000	0.83093	0.600000	0.82982	ACT		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32663088	G	C	32663088	3	2	64	1	0	0	0	0	1	0	0	0	4580	1029	36	5	10438	5	DMD	23	32663088	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		32663088	122607472	44	4254											
PCDH11X	27328	broad.mit.edu	37	chrX	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctggcatccagttgaCgaaagtaagtgcaatggatg	11	10	11	9	1	1	1	0	1	1	0	3	3	2	2	2	2	1	4	2	2	3	2	rs62621113		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:91132696C>T	ENST00000373094.1	+	2	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_ENST00000361655.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T486M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T486M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1456-1458)aCg>aTg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							99	82	88					X																	91132696		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132696C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1457C>T	X.37:g.91132696C>T	ENSP00000362186:p.Thr486Met					PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2302	+			486			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1457C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873758	0.17322	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.049108	0.85682	D	0.000000	T	0.60379	0.2264	L	0.41906	1.305	0.51012	D	0.999908	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.80764	0.975;0.967;0.99;0.99;0.99;0.994;0.958;0.958	T	0.57365	-0.7824	10	0.34782	T	0.22	.	17.0331	0.86466	0.0:1.0:0.0:0.0	rs62621113	486;486;486;486;486;486;486;486	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	486	ENSP00000378746:T486M;ENSP00000362186:T486M;ENSP00000362189:T486M;ENSP00000355040:T486M;ENSP00000362180:T486M;ENSP00000423762:T486M;ENSP00000355105:T486M;ENSP00000384758:T486M;ENSP00000298274:T486M	ENSP00000298274:T486M	T	+	2	0	PCDH11X	91019352	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	5.760000	0.68793	2.231000	0.72958	0.544000	0.68410	ACG		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91132696	C	T	91132696	3	4	64	1	0	0	0	0	1	0	0	0	11508	536	19	1	1463	1	PCDH11X	23	91132696	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	58469608	91132696	64137864	45	4255											
GPRASP2	114928	broad.mit.edu	37	chrX	101971308	101971308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaacctggtctttttcAtggggttggcttccgatcca	7	15	9	10	1	3	0	2	0	1	0	5	1	5	0	3	4	1	2	3	4	1	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:101971308A>G	ENST00000535209.1	+	4	2342	c.1511A>G	c.(1510-1512)cAt>cGt	p.H504R	GPRASP2_ENST00000332262.5_Missense_Mutation_p.H504R|GPRASP2_ENST00000543253.1_Missense_Mutation_p.H504R			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	504						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGTCTTTTTCATGGGGTTGGC	0.512																																						uc022cbh.1																			0											c.(1510-1512)cAt>cGt		Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.							78	72	74					X																	101971308		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101971308A>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1511A>G	X.37:g.101971308A>G	ENSP00000437394:p.His504Arg					ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.H504R	p.H504R	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN			0	1511	+			504					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1511A>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.440239	0.01098	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.06294	3.32;3.32;3.32	4.44	-0.588	0.11687	.	0.431614	0.19977	N	0.101846	T	0.04998	0.0134	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.14252	T	0.57	.	3.8201	0.08832	0.4811:0.1942:0.3247:0.0	.	504	Q96D09	GASP2_HUMAN	R	504	ENSP00000437872:H504R;ENSP00000437394:H504R;ENSP00000339057:H504R	ENSP00000339057:H504R	H	+	2	0	GPRASP2	101857964	0.985000	0.35326	0.001000	0.08648	0.006000	0.05464	0.816000	0.27267	-0.211000	0.10124	-0.377000	0.06932	CAT		0.512	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		G	101971308	A	G	101971308	3	3	64	1	0	0	0	0	1	0	0	0	6723	217	8	4	1513	4	GPRASP2	23	101971308	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08	10838612	101971308	53299252	46	4256											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968500	4968500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactacacctactactttcAagcctgacagccctgatttg	11	12	5	13	0	1	2	1	2	0	0	1	2	1	2	3	0	6	0	3	0	5	6			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrY:4968500A>G	ENST00000333703.4	+	5	3361	c.2848A>G	c.(2848-2850)Aag>Gag	p.K950E	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.K961E|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.K961E	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	961					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACTACTTTCAAGCCTGACAG	0.458																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2881-2883)Aag>Gag		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968500A>G	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2848A>G	Y.37:g.4968500A>G	ENSP00000330552:p.Lys950Glu					PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E	p.K961E	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	3615	+			961					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2881A>G	CCDS14776.1																																																																																				0.458	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		G	4968500	A	G	4968500	3	3	64	1	0	0	0	0	1	0	0	0	11509	131	5	4	2923	4	PCDH11Y	24	4968500	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08		4968500	54405066	47	4257											
AGRN	375790	broad.mit.edu	37	chr1	981607	981607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccatcgcctgccgccaggGcctgcaaatctctatccaga	9	7	9	16	2	1	1	0	0	1	1	4	2	2	1	6	1	2	1	6	1	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:981607G>A	ENST00000379370.2	+	17	2923	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	958	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCGCCAGGGCCTGCAAATC	0.612																																						uc001ack.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2872-2874)gGc>gAc		Homo sapiens agrin (AGRN), mRNA.							95	99	97					1																	981607		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981607G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2873G>A	1.37:g.981607G>A	ENSP00000368678:p.Gly958Asp						p.G958D	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	16	2923	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	958			Kazal-like 9.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.2873G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581022	0.46006	.	.	ENSG00000188157	ENST00000379370	T	0.04706	3.57	5.56	5.56	0.83823	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.424717	0.20300	N	0.095043	T	0.09598	0.0236	L	0.45744	1.44	0.33474	D	0.586522	P	0.38223	0.623	P	0.44647	0.456	T	0.21827	-1.0234	10	0.14656	T	0.56	-12.5464	19.1751	0.93600	0.0:0.0:1.0:0.0	.	958	O00468	AGRIN_HUMAN	D	958	ENSP00000368678:G958D	ENSP00000368678:G958D	G	+	2	0	AGRN	971470	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.302000	0.51849	2.632000	0.89209	0.650000	0.86243	GGC		0.612	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		A	981607	G	A	981607	3	1	65	1	0	0	0	0	1	0	0	0	397	1203	42	3	2939	3	AGRN	1	981607	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		981607	248269014	1	4258											
ZNF362	149076	broad.mit.edu	37	chr1	33745881	33745881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctcagggatcaccaGcccccctctcctggactcca	7	8	6	20	0	4	0	3	0	2	0	7	2	5	2	7	2	1	0	7	2	0	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:33745881G>A	ENST00000539719.1	+	5	676	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ZNF362_ENST00000373428.5_Missense_Mutation_p.S169N	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGATCACCAGCCCCCCTCTC	0.677																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(505-507)aGc>aAc		Homo sapiens zinc finger protein 362 (ZNF362), mRNA.							76	70	72					1																	33745881		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745881G>A		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.506G>A	1.37:g.33745881G>A	ENSP00000446335:p.Ser169Asn						p.S169N	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			4	676	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	169					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.506G>A	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447838	0.84101	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09073	3.02;3.02	6.03	6.03	0.97812	.	0.602886	0.15727	N	0.247624	T	0.10380	0.0254	L	0.44542	1.39	0.54753	D	0.999985	B	0.33694	0.421	B	0.29785	0.107	T	0.05354	-1.0890	10	0.66056	D	0.02	-26.6453	16.0569	0.80812	0.0:0.0:1.0:0.0	.	169	Q5T0B9	ZN362_HUMAN	N	156;169;169	ENSP00000446335:S169N;ENSP00000362527:S169N	ENSP00000362527:S169N	S	+	2	0	ZNF362	33518468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.899000	0.92544	2.861000	0.98227	0.655000	0.94253	AGC		0.677	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		A	33745881	G	A	33745881	3	1	65	1	0	0	0	0	1	0	0	0	17865	971	34	3	520	3	ZNF362	1	33745881	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	32764274	33745881	215504740	2	4259											
MAP7D1	55700	broad.mit.edu	37	chr1	36636835	36636835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccagccatgggcccaCgggatgccagacctcctcga	8	4	10	19	2	0	1	0	0	0	1	2	3	1	2	8	2	2	0	8	2	0	0	rs2296266	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:36636835C>T	ENST00000373151.2	+	2	526	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	MAP7D1_ENST00000316156.4_Missense_Mutation_p.R104W|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R104W	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	104	Pro-rich.		R -> W (in dbSNP:rs2296266).		microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CATGGGCCCACGGGATGCCAG	0.662													C|||	72	0.014377	0	0	5008	,	,		14209	0.0437		0	False		,,,				2504	0.0286					uc001bzz.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(310-312)Cgg>Tgg		Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.		C	TRP/ARG	5,4399	6.2+/-15.9	0,5,2197	34	36	35		310	2	0.8	1	dbSNP_100	35	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MAP7D1	NM_018067.3	101	0,6,6495	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	104/842	36636835	6,12996	2202	4299	6501	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36636835C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.310C>T	1.37:g.36636835C>T	ENSP00000362244:p.Arg104Trp					MAP7D1_uc001caa.3_Missense_Mutation_p.R104W|MAP7D1_uc001cab.3_Missense_Mutation_p.R104W|MAP7D1_uc001cac.3_5'Flank	p.R104W	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			1	526	+		Myeloproliferative disorder(586;0.0393)	104		R -> W (in dbSNP:rs2296266).	Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.310C>T	CCDS30673.1	12	0.005494505494505495	0	0.0	0	0.0	12	0.02097902097902098	0	0.0	C	17.05	3.290260	0.59976	0.001135	1.16E-4	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41	5.06	1.96	0.26148	.	0.198819	0.24907	N	0.034645	T	0.06325	0.0163	L	0.36672	1.1	0.33933	D	0.642307	D;D;D	0.89917	0.994;0.994;1.0	P;P;D	0.63283	0.653;0.534;0.913	T	0.06552	-1.0820	10	0.72032	D	0.01	-12.2625	11.8307	0.52293	0.6187:0.3813:0.0:0.0	rs2296266;rs2296266	104;104;104	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	W	65;104;104;104;65	ENSP00000390091:R65W;ENSP00000320228:R104W;ENSP00000362243:R104W;ENSP00000362244:R104W;ENSP00000435126:R65W	ENSP00000320228:R104W	R	+	1	2	MAP7D1	36409422	0.001000	0.12720	0.777000	0.31699	0.791000	0.44710	0.061000	0.14366	0.237000	0.21200	0.563000	0.77884	CGG		0.662	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		T	36636835	C	T	36636835	3	4	65	1	0	0	0	0	1	0	0	0	9267	527	19	1	316	1	MAP7D1	1	36636835	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	2890954	36636835	212613786	3	4260											
TM2D1	83941	broad.mit.edu	37	chr1	62190731	62190731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagacgaaccacaggacaCcaacgagtctggccgtcacg	12	4	11	14	4	2	1	1	1	1	1	2	5	2	2	3	2	2	0	3	2	2	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:62190731C>A	ENST00000606498.1	-	1	82	c.62G>T	c.(61-63)gGt>gTt	p.G21V	TM2D1_ENST00000371177.2_Missense_Mutation_p.G21V|TM2D1_ENST00000294613.5_Missense_Mutation_p.G21V|TM2D1_ENST00000371180.2_Missense_Mutation_p.G83V			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	21					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CCACAGGACACCAACGAGTCT	0.657																																						uc001czz.1																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(61-63)gGt>gTt		Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.							40	47	44					1																	62190731		1920	4108	6028	SO:0001583	missense	83941				apoptosis			g.chr1:62190731C>A	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.62G>T	1.37:g.62190731C>A	ENSP00000475700:p.Gly21Val						p.G21V	NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			0	365	-			21					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.62G>T		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311350	0.40895	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.61	3.69	0.42338	.	0.132784	0.35151	N	0.003419	T	0.29556	0.0737	L	0.36672	1.1	0.09310	N	0.999997	B	0.32338	0.365	B	0.31614	0.133	T	0.13045	-1.0524	9	0.15499	T	0.54	-9.6744	10.96	0.47379	0.0:0.8111:0.1889:0.0	.	21	Q9BX74	TM2D1_HUMAN	V	83;21;21;21	.	ENSP00000294613:G21V	G	-	2	0	TM2D1	61963319	0.014000	0.17966	0.010000	0.14722	0.195000	0.23768	2.086000	0.41643	1.283000	0.44513	0.407000	0.27541	GGT		0.657	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		A	62190731	C	A	62190731	3	1	65	1	0	0	0	0	1	0	0	0	15960	507	18	5	585	5	TM2D1	1	62190731	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	25553896	62190731	187059890	4	4261											
FLG	2312	broad.mit.edu	37	chr1	152282713	152282713	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcctggagccgtctcctGattgttcctcatttcttgtt	4	17	9	11	1	3	1	1	1	2	0	5	2	4	2	4	1	2	2	4	1	0	5	rs200294818		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:152282713G>C	ENST00000368799.1	-	3	4684	c.4649C>G	c.(4648-4650)tCa>tGa	p.S1550*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1550	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTCTCCTGATTGTTCCTC	0.592									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4648-4650)tCa>tGa		Homo sapiens filaggrin (FLG), mRNA.							273	268	270					1																	152282713		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282713G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4649C>G	1.37:g.152282713G>C	ENSP00000357789:p.Ser1550*						p.S1550*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4685	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1550			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.4649C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	39	7.816881	0.98507	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.62	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.6616	0.23016	0.0:0.3005:0.6995:0.0	.	.	.	.	X	1550	.	ENSP00000357789:S1550X	S	-	2	0	FLG	150549337	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.041000	0.12084	1.498000	0.48600	0.485000	0.47835	TCA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152282713	G	C	152282713	4	2	65	1	0	0	0	0	0	1	0	0	5922	1294	45	5	7540	5	FLG	1	152282713	Nonsense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	90091982	152282713	96967908	5	4262											
TMEM198	130612	broad.mit.edu	37	chr2	220414057	220414057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcccatcaaacgcttcaAtggagacgtcctctccccgg	9	8	9	15	3	3	1	2	0	1	1	5	2	4	1	4	2	2	1	4	2	2	1	rs564632806		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr2:220414057A>G	ENST00000344458.2	+	5	1511	c.926A>G	c.(925-927)aAt>aGt	p.N309S	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.N309S			Q66K66	TM198_HUMAN	transmembrane protein 198	309					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AAACGCTTCAATGGAGACGTC	0.627													A|||	1	0.000199681	0	0	5008	,	,		17002	0		0	False		,,,				2504	0.001					uc002vme.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(925-927)aAt>aGt		Homo sapiens transmembrane protein 198 (TMEM198), mRNA.							38	39	38					2																	220414057		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414057A>G	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.926A>G	2.37:g.220414057A>G	ENSP00000343507:p.Asn309Ser					TMEM198_uc002vmf.3_Missense_Mutation_p.N309S|MIR3132_uc021vxc.1_5'Flank	p.N309S	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1511	+		Renal(207;0.0376)	309						Missense_Mutation	SNP	ENST00000344458.2	37	c.926A>G	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718890	0.30503	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.62	4.46	0.54185	.	0.057296	0.64402	D	0.000002	T	0.23806	0.0576	N	0.08118	0	0.32329	N	0.561339	B	0.22909	0.077	B	0.20184	0.028	T	0.20840	-1.0263	9	0.09084	T	0.74	-10.1579	11.0287	0.47759	0.9265:0.0:0.0735:0.0	.	309	Q66K66	TM198_HUMAN	S	309	.	ENSP00000343507:N309S	N	+	2	0	TMEM198	220122301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.377000	0.52425	2.275000	0.75901	0.528000	0.53228	AAT		0.627	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		G	220414057	A	G	220414057	3	3	65	1	0	0	0	0	1	0	0	0	16116	101	4	4	936	4	TMEM198	2	220414057	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		220414057	22785316	6	4263											
TGFBR2	7048	broad.mit.edu	37	chr3	30732972	30732972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacgacccagaggcccgtCtcacagcccagtgtgtggca	9	5	11	16	2	1	1	1	0	1	1	2	2	1	1	4	2	1	1	4	2	0	0	rs201601508		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:30732972C>T	ENST00000295754.5	+	7	1967	c.1585C>T	c.(1585-1587)Ctc>Ttc	p.L529F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.L554F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	529	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGAGGCCCGTCTCACAGCCCA	0.592																																						uc003ceo.3																			0		p.R528C(2)|p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064335	TGFBR2	M		c.(1585-1587)Ctc>Ttc		Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.							73	69	70					3																	30732972		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732972C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1585C>T	3.37:g.30732972C>T	ENSP00000295754:p.Leu529Phe					TGFBR2_uc003cen.3_Missense_Mutation_p.L554F	p.L529F	NM_003242	NP_003233	P37173	TGFR2_HUMAN			6	1967	+			529			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1585C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330082	0.95733	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94000	-3.33;-3.33	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96788	0.9580	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	529;554	P37173;D2JYI1	TGFR2_HUMAN;.	F	529;554;359	ENSP00000295754:L529F;ENSP00000351905:L554F	ENSP00000295754:L529F	L	+	1	0	TGFBR2	30707976	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	CTC		0.592	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			T	30732972	C	T	30732972	3	4	65	1	0	0	0	0	1	0	0	0	15819	913	32	3	1690	3	TGFBR2	3	30732972	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		30732972	167289458	7	4264											
CELSR3	1951	broad.mit.edu	37	chr3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatatgggcattggggccttCgtcagggtccactgcagtga	7	11	14	9	1	1	1	1	1	0	0	3	1	2	1	2	4	1	2	2	4	2	4	rs144228630		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:48696782C>T	ENST00000164024.4	-	1	3566	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K	CELSR3_ENST00000544264.1_Missense_Mutation_p.E1096K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1096	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532																																						uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3496-3498)Gaa>Aaa		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.		C	LYS/GLU	0,4406		0,0,2203	90	88	89		3286	4.9	1	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1096/3313	48696782	1,13005	2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696782C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3286G>A	3.37:g.48696782C>T	ENSP00000164024:p.Glu1096Lys					CELSR3_uc003cul.3_Missense_Mutation_p.E1096K	p.E1166K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	3496	-			1096			Cadherin 8.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3496G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699630	0.68501	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52295	0.67;0.67	5.78	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62196	0.2408	M	0.62723	1.935	0.58432	D	0.999999	D;P	0.60160	0.987;0.867	P;B	0.58721	0.844;0.214	T	0.65434	-0.6169	9	0.54805	T	0.06	.	16.1525	0.81632	0.1346:0.8654:0.0:0.0	.	1096;1166	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	1096	ENSP00000164024:E1096K;ENSP00000445694:E1096K	ENSP00000164024:E1096K	E	-	1	0	CELSR3	48671786	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	6.089000	0.71384	1.428000	0.47296	0.561000	0.74099	GAA		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48696782	C	T	48696782	3	4	65	1	0	0	0	0	1	0	0	0	3223	893	31	2	6792	2	CELSR3	3	48696782	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	17963810	48696782	149325648	8	4265											
BSN	8927	broad.mit.edu	37	chr3	49699300	49699300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccagggcccatggggcCcaagcatccctccaagagcc	8	5	12	16	0	0	1	0	0	0	1	3	1	3	1	6	4	2	1	6	4	2	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:49699300C>T	ENST00000296452.4	+	6	10136	c.10022C>T	c.(10021-10023)cCc>cTc	p.P3341L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3341					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCATGGGGCCCAAGCATCCC	0.572																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(10021-10023)cCc>cTc		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							40	42	42					3																	49699300		2202	4300	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699300C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10022C>T	3.37:g.49699300C>T	ENSP00000296452:p.Pro3341Leu						p.P3341L	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	10136	+			3341					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.10022C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898564	0.17686	.	.	ENSG00000164061	ENST00000296452	T	0.18338	2.22	5.49	3.59	0.41128	.	0.068876	0.64402	D	0.000017	T	0.11024	0.0269	L	0.36672	1.1	0.42471	D	0.992821	B	0.22800	0.075	B	0.14023	0.01	T	0.10753	-1.0616	10	0.12103	T	0.63	-15.3571	7.9277	0.29885	0.3096:0.6116:0.0:0.0788	.	3341	Q9UPA5	BSN_HUMAN	L	3341	ENSP00000296452:P3341L	ENSP00000296452:P3341L	P	+	2	0	BSN	49674304	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.557000	0.53741	1.321000	0.45227	0.561000	0.74099	CCC		0.572	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49699300	C	T	49699300	3	4	65	1	0	0	0	0	1	0	0	0	1530	623	22	3	10044	3	BSN	3	49699300	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	1002518	49699300	148323130	9	4266											
CLDN18	51208	broad.mit.edu	37	chr3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggcgctcctgtgtccGagagagctctggcttcaccg	4	10	14	13	3	2	1	1	0	1	1	4	3	4	1	3	2	1	4	3	2	0	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:137717874G>A	ENST00000343735.4	+	1	298	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	55					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602																																						uc003ero.1																			0		p.V54M(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(163-165)cGa>cAa		Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.							89	86	87					3																	137717874		2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717874G>A	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.164G>A	3.37:g.137717874G>A	ENSP00000340939:p.Arg55Gln						p.R55Q	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			0	217	+			55					A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	c.164G>A	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946867	0.34377	.	.	ENSG00000066405	ENST00000343735	D	0.88509	-2.39	4.28	4.28	0.50868	.	0.316676	0.24583	N	0.037288	T	0.81564	0.4849	.	.	.	0.80722	D	1	B	0.19583	0.037	B	0.14578	0.011	T	0.76052	-0.3100	9	0.27082	T	0.32	.	10.8678	0.46866	0.087:0.0:0.913:0.0	.	55	P56856-2	.	Q	55	ENSP00000340939:R55Q	ENSP00000340939:R55Q	R	+	2	0	CLDN18	139200564	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	4.123000	0.57917	2.380000	0.81148	0.563000	0.77884	CGA		0.602	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		A	137717874	G	A	137717874	3	1	65	1	0	0	0	0	1	0	0	0	3479	1058	37	2	166	2	CLDN18	3	137717874	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	88018574	137717874	60304556	10	4267											
ATP10D	57205	broad.mit.edu	37	chr4	47575010	47575010	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctattttttctataagaAtgtggtatgtaaccccagag	11	16	7	7	0	2	2	0	0	2	2	3	2	2	2	2	1	1	2	2	1	6	8	rs371072531		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:47575010A>T	ENST00000273859.3	+	18	3631	c.3362A>T	c.(3361-3363)aAt>aTt	p.N1121I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1121					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATAAGAATGTGGTATGT	0.433																																						uc003gxk.1																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3361-3363)aAt>aTt		Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.							203	195	198					4																	47575010		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47575010A>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3362A>T	4.37:g.47575010A>T	ENSP00000273859:p.Asn1121Ile					ATP10D_uc003gxl.1_Missense_Mutation_p.N369I	p.N1121I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			17	3526	+			1121					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3362A>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700362	0.88924	.	.	ENSG00000145246	ENST00000273859	D	0.92099	-2.97	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99640	1.0988	10	0.87932	D	0	-27.5014	15.5142	0.75809	1.0:0.0:0.0:0.0	.	1121	Q9P241	AT10D_HUMAN	I	1121	ENSP00000273859:N1121I	ENSP00000273859:N1121I	N	+	2	0	ATP10D	47269767	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.139000	0.94554	2.243000	0.73865	0.528000	0.53228	AAT		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47575010	A	T	47575010	3	4	65	1	0	0	0	0	1	0	0	0	1118	101	4	5	3428	5	ATP10D	4	47575010	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		47575010	143579266	11	4268											
KIAA1211	57482	broad.mit.edu	37	chr4	57189704	57189704	+	Frame_Shift_Del	DEL	A	A	-																															gaaagcaagccagagaggccAaacaggcagaaaagctctcc																										TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:57189704delA	ENST00000504228.1	+	7	3454	c.3349delA	c.(3349-3351)aaafs	p.K1117fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.K1110fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.K1117fs			Q6ZU35	K1211_HUMAN	KIAA1211	1117										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGAGAGGCCAAACAGGCAGA	0.507																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3349-3351)aaafs		Homo sapiens KIAA1211 (KIAA1211), mRNA.							71	85	80					4																	57189704		1944	4129	6073	SO:0001589	frameshift_variant	57482							g.chr4:57189704delA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3349delA	4.37:g.57189704delA	ENSP00000423366:p.Lys1117fs					KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs	p.K1117fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3740	+	Glioma(25;0.08)|all_neural(26;0.101)		1117					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	37	c.3349delA	CCDS43230.1																																																																																				0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		-	57189704	A	-	57189704	7	5	65	1	0	1	0	1	0	0	0	0	8215	131	5	0	3371	0	KIAA1211	4	57189704	Frame_Shift_Del	DEL	A	TCGA-06-0875-01A-01W-0424-08	9614694	57189704	133964572	12	4269											
TLR2	7097	broad.mit.edu	37	chr4	154626088	154626088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagttgtgtcttcataagCgggacttcattcctggcaag	9	13	10	9	1	4	0	3	0	1	0	5	1	5	1	1	2	1	2	1	2	3	5	rs121917864		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:154626088C>T	ENST00000260010.6	+	1	3437	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	677	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		R -> W. {ECO:0000269|PubMed:11476982, ECO:0000269|PubMed:12646604}.		apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCTTCATAAGCGGGACTTCAT	0.443																																						uc003inq.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	GRCh37	CM015327	TLR2	M	rs121917864	c.(2029-2031)Cgg>Tgg		Homo sapiens toll-like receptor 2 (TLR2), mRNA.							78	78	78					4																	154626088		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154626088C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2029C>T	4.37:g.154626088C>T	ENSP00000260010:p.Arg677Trp					TLR2_uc003inr.3_Missense_Mutation_p.R677W|TLR2_uc003ins.3_Missense_Mutation_p.R677W|TLR2_uc021xtl.1_Missense_Mutation_p.R677W	p.R677W	NM_003264	NP_003255	O60603	TLR2_HUMAN			2	2248	+	all_hematologic(180;0.093)	Renal(120;0.117)	677		R -> W.	TIR.		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.2029C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906240	0.52333	.	.	ENSG00000137462	ENST00000260010	T	0.12672	2.66	5.83	3.93	0.45458	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.065730	0.64402	D	0.000012	T	0.48187	0.1486	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62520	-0.6837	10	0.87932	D	0	.	14.9308	0.70914	0.279:0.721:0.0:0.0	.	677	O60603	TLR2_HUMAN	W	677	ENSP00000260010:R677W	ENSP00000260010:R677W	R	+	1	2	TLR2	154845538	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.065000	0.41442	2.758000	0.94735	0.655000	0.94253	CGG		0.443	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			T	154626088	C	T	154626088	3	4	65	1	0	0	0	0	1	0	0	0	15948	759	27	1	2031	1	TLR2	4	154626088	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	97436384	154626088	36528188	13	4270											
DNAH5	1767	broad.mit.edu	37	chr5	13735337	13735337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaggaatttgtgctcctcGtacagccctcgggcagcata	10	9	10	12	2	0	0	0	0	0	0	3	1	1	1	2	2	5	4	2	2	4	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:13735337G>A	ENST00000265104.4	-	68	11768	c.11664C>T	c.(11662-11664)taC>taT	p.Y3888Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3888					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3888*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCTCCTCGTACAGCCCTC	0.458									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)	p.Y3888*(2)	lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11662-11664)taC>taT		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							127	113	118					5																	13735337		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735337G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11664C>T	5.37:g.13735337G>A						DNAH5_uc003jfc.2_Silent_p.Y56Y	p.Y3888Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			67	11706	-	Lung NSC(4;0.00476)		3888					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11664C>T	CCDS3882.1																																																																																				0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13735337	G	A	13735337	2	1	65	1	0	0	0	0	0	0	0	1	4604	1140	40	1		1	DNAH5	5	13735337	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08		13735337	167179923	14	4271											
PCDHA12	56137	broad.mit.edu	37	chr5	140256980	140256980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcctggatgaggcggaCgctccgcgccaccgcctgct	5	6	13	17	6	0	1	0	1	0	0	2	3	2	3	5	3	1	3	5	3	0	0	rs375548936		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:140256980C>T	ENST00000398631.2	+	1	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGCGGACGCTCCGCGCC	0.692													.|||	1	0.000199681	8e-04	0	5008	,	,		15912	0		0	False		,,,				2504	0				Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1921-1923)gaC>gaT		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.		C	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	159	150	153		,,,1923,,,,,,,,,,,,1923	-1	0	5		153	0,8598		0,0,4299	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,,,,,,,,	,,,641/942,,,,,,,,,,,,641/793	140256980	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140256980C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1923C>T	5.37:g.140256980C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.D641D	p.D641D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2050	+			652			Cadherin 6.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1923C>T	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		T	140256980	C	T	140256980	2	4	65	1	0	0	0	0	0	0	0	1	11522	535	19	1		1	PCDHA12	5	140256980	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	126521643	140256980	40658280	15	4272											
IL12B	3593	broad.mit.edu	37	chr5	158743755	158743755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtagcggtcctgggcccGcacgctaatgctggcatttt	7	11	12	11	3	0	0	0	0	0	0	1	0	1	0	2	3	2	5	2	3	3	5			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:158743755G>A	ENST00000231228.2	-	7	1380	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	309	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGGGCCCGCACGCTAATG	0.562											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lxr.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(925-927)Cgg>Tgg		Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.							79	70	73					5																	158743755		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158743755G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.925C>T	5.37:g.158743755G>A	ENSP00000231228:p.Arg309Trp		OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1796	RNU4ATAC_uc021ygw.1_5'Flank	p.R309W	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	967	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	309			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000231228.2	37	c.925C>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184772	0.57909	.	.	ENSG00000113302	ENST00000231228	T	0.50813	0.73	6.03	5.15	0.70609	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.369101	0.31438	N	0.007649	T	0.59155	0.2173	M	0.72118	2.19	0.29848	N	0.828672	D	0.71674	0.998	P	0.53722	0.733	T	0.64753	-0.6333	10	0.87932	D	0	-1.4092	12.6888	0.56962	0.0:0.0:0.8352:0.1648	.	309	P29460	IL12B_HUMAN	W	309	ENSP00000231228:R309W	ENSP00000231228:R309W	R	-	1	2	IL12B	158676333	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	1.952000	0.40343	1.537000	0.49254	-0.182000	0.12963	CGG		0.562	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		A	158743755	G	A	158743755	3	1	65	1	0	0	0	0	1	0	0	0	7625	1086	38	1	65	1	IL12B	5	158743755	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	18486775	158743755	22171505	16	4273											
KDM1B	221656	broad.mit.edu	37	chr6	18207666	18207666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaccacaatgaattctttgCccagtttgctggtgaccaca	10	11	9	11	0	1	2	0	2	1	0	1	3	1	3	3	2	2	2	3	2	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:18207666C>T	ENST00000297792.5	+	12	1178	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.A334V|KDM1B_ENST00000388870.2_Missense_Mutation_p.A566V			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	566	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAATTCTTTGCCCAGTTTGCT	0.502																																						uc003nco.1																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1087-1089)gCc>gTc		Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.							142	122	129					6																	18207666		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18207666C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1001C>T	6.37:g.18207666C>T	ENSP00000297792:p.Ala334Val					KDM1B_uc003ncn.1_Missense_Mutation_p.A334V	p.A363V	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			8	1163	+			566			SWIRM.		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1088C>T	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.614330|5.614330	0.96649|0.96649	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.91894|.	-2.93;-2.93;-2.93|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Amine oxidase (1);|.	0.227351|.	0.43110|.	D|.	0.000602|.	T|T	0.64627|0.64627	0.2615|0.2615	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.983;0.996|.	T|T	0.59653|0.59653	-0.7414|-0.7414	10|5	0.52906|.	T|.	0.07|.	-10.7827|-10.7827	19.9598|19.9598	0.97242|0.97242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	566;334|.	Q8NB78;A2A2C6|.	KDM1B_HUMAN;.|.	V|S	566;334;334;566|383	ENSP00000373522:A566V;ENSP00000380419:A334V;ENSP00000297792:A334V|.	ENSP00000297792:A334V|.	A|P	+|+	2|1	0|0	KDM1B|KDM1B	18315645|18315645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.729000|7.729000	0.84864|0.84864	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.502	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		T	18207666	C	T	18207666	3	4	65	1	0	0	0	0	1	0	0	0	8123	739	26	3	1039	3	KDM1B	6	18207666	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		18207666	152907401	17	4274											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858448	27858451	+	Frame_Shift_Del	DEL	GCGG	GCGG	-																															gccacggtgcctggcctgtaGcggtggggcttcttcacacc																										TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:27858448_27858451delGCGG	ENST00000359303.2	-	1	119_122	c.120_123delCCGC	c.(118-123)caccgcfs	p.HR40fs	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	40					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTGGCCTGTAGCGGTGGGGCTTCT	0.632																																						uc003nka.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(118-123)caccgcfs		Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.																																				SO:0001589	frameshift_variant	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858448_27858451delGCGG	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.120_123delCCGC	6.37:g.27858448_27858451delGCGG	ENSP00000352252:p.His40fs					HIST1H2BO_uc003nkc.1_5'Flank	p.H40fs	NM_003535	NP_066298	P68431	H31_HUMAN			0	120_123	-			40					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	ENST00000359303.2	37	c.120_123delCCGC	CCDS4638.1																																																																																				0.632	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		-	27858451	GCGG	-	27858448	7	5	65	1	0	1	0	1	0	0	0	0	7164	958	34	0	291	0	HIST1H3J	6	27858448	Frame_Shift_Del	DEL	GCGG	TCGA-06-0875-01A-01W-0424-08	9650782	27858448	143256619	18	4275											
PRSS35	167681	broad.mit.edu	37	chr6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaagggctgggcaCgaggaggcatgggggacgct	9	5	18	9	3	0	0	0	0	0	0	1	4	1	2	1	6	0	4	1	6	1	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:84233953C>T	ENST00000369700.3	+	2	970	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.R265*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527																																						uc003pjz.3																			0		p.A264T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(793-795)Cga>Tga		Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.							57	61	59					6																	84233953		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233953C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.793C>T	6.37:g.84233953C>T	ENSP00000358714:p.Arg265*					PRSS35_uc010kbm.3_Nonsense_Mutation_p.R265*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R265*	p.R265*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	1	1033	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	265			Peptidase S1.		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.793C>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452436	0.63290	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.91	3.48	0.39840	.	0.260062	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5274	12.8076	0.57622	0.7302:0.2698:0.0:0.0	.	.	.	.	X	265	.	ENSP00000358714:R265X	R	+	1	2	PRSS35	84290672	0.984000	0.35163	0.001000	0.08648	0.161000	0.22273	2.817000	0.48034	0.474000	0.27392	-0.521000	0.04368	CGA		0.527	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		T	84233953	C	T	84233953	4	4	65	1	0	0	0	0	0	1	0	0	12624	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	56375505	84233953	86881114	19	4276											
WISP3	8838	broad.mit.edu	37	chr6	112385979	112385979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagctgttgggtgcgAgttcaaccaggtacattatc	8	13	11	9	1	1	0	1	0	0	0	2	1	1	0	2	2	4	5	2	2	4	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:112385979A>G	ENST00000368666.2	+	3	654	c.368A>G	c.(367-369)gAg>gGg	p.E123G	WISP3_ENST00000368663.3_Missense_Mutation_p.E100G|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000361714.1_Missense_Mutation_p.E141G|WISP3_ENST00000604763.1_Missense_Mutation_p.E123G|WISP3_ENST00000230529.5_Missense_Mutation_p.E123G	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	123					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTTGGGTGCGAGTTCAACCAG	0.458																																						uc003pvo.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(421-423)gAg>gGg		Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.							180	157	165					6																	112385979		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112385979A>G	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.368A>G	6.37:g.112385979A>G	ENSP00000357655:p.Glu123Gly					WISP3_uc003pvm.3_Missense_Mutation_p.E123G|WISP3_uc003pvn.3_Non-coding_Transcript	p.E141G	NM_198239	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	2	558	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	123					Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.422A>G	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905020	0.72868	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.45	5.45	0.79879	.	0.044694	0.85682	D	0.000000	T	0.74359	0.3706	M	0.85299	2.745	0.50632	D	0.999883	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.921	T	0.74106	-0.3772	10	0.25106	T	0.35	-5.0711	15.8118	0.78571	1.0:0.0:0.0:0.0	.	141;123	O95389-2;O95389	.;WISP3_HUMAN	G	123;123;141;123;100	ENSP00000357655:E123G;ENSP00000230529:E123G;ENSP00000354734:E141G;ENSP00000357652:E100G	ENSP00000230529:E123G	E	+	2	0	WISP3	112492672	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	8.577000	0.90773	2.197000	0.70478	0.459000	0.35465	GAG		0.458	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		G	112385979	A	G	112385979	3	3	65	1	0	0	0	0	1	0	0	0	17371	304	11	4	432	4	WISP3	6	112385979	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	28152026	112385979	58729088	20	4277											
GPR141	353345	broad.mit.edu	37	chr7	37780069	37780069	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttaatcagcctctactTcatagtgcttattggcgggc	8	13	8	12	1	3	0	2	0	1	0	3	0	3	0	2	2	3	1	2	2	4	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:37780069T>A	ENST00000447769.1	+	4	363	c.74T>A	c.(73-75)tTc>tAc	p.F25Y	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F25Y|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCTCTACTTCATAGTGCTT	0.493																																						uc003tfm.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(73-75)tTc>tAc		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.							140	147	145					7																	37780069		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780069T>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.74T>A	7.37:g.37780069T>A	ENSP00000390410:p.Phe25Tyr					BC043356_uc003tfl.3_Intron	p.F25Y	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			0	74	+			25					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.74T>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401870	0.25291	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.38560	1.13;1.13;1.13	5.18	-2.22	0.06952	.	1.115670	0.06686	N	0.768775	T	0.25865	0.0630	L	0.27053	0.805	0.09310	N	1	B	0.30542	0.284	B	0.28553	0.091	T	0.23547	-1.0185	10	0.17369	T	0.5	-0.3253	8.2844	0.31920	0.0:0.229:0.1362:0.6348	.	25	Q7Z602	GP141_HUMAN	Y	25	ENSP00000396300:F25Y;ENSP00000390410:F25Y;ENSP00000334540:F25Y	ENSP00000334540:F25Y	F	+	2	0	GPR141	37746594	0.007000	0.16637	0.012000	0.15200	0.048000	0.14542	0.382000	0.20635	-0.121000	0.11787	0.528000	0.53228	TTC		0.493	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		A	37780069	T	A	37780069	3	1	65	1	0	0	0	0	1	0	0	0	6649	1783	62	5	76	5	GPR141	7	37780069	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08		37780069	121358594	21	4278											
TXNDC3	51314	broad.mit.edu	37	chr7	37923971	37923971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagacaagtagtattatCggaaaaagaagcacaagcac	20	5	9	7	1	0	2	0	0	0	2	1	3	0	3	0	1	2	5	0	1	9	3	rs144650767		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:37923971C>T	ENST00000199447.4	+	13	1433	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.S354L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	354	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GTAGTATTATCGGAAAAAGAA	0.294																																						uc003tfn.3																			0											c.(1060-1062)tCg>tTg		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.		C	LEU/SER	0,4406		0,0,2203	83	80	81		1061	3.9	0.7	7	dbSNP_134	81	1,8591	1.2+/-3.3	0,1,4295	no	missense	TXNDC3	NM_016616.4	145	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	354/589	37923971	1,12997	2203	4296	6499	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37923971C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1061C>T	7.37:g.37923971C>T	ENSP00000199447:p.Ser354Leu						p.S354L	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			12	1433	+			354			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1061C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682447	0.47991	0.0	1.16E-4	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.57107	0.42;0.42	3.91	3.91	0.45181	.	0.176130	0.27792	N	0.017827	T	0.71986	0.3405	M	0.86420	2.815	0.38490	D	0.947956	D	0.63046	0.992	P	0.61070	0.883	T	0.80058	-0.1541	10	0.87932	D	0	-17.4456	13.9272	0.63970	0.0:1.0:0.0:0.0	.	354	Q8N427	TXND3_HUMAN	L	354	ENSP00000199447:S354L;ENSP00000397063:S354L	ENSP00000199447:S354L	S	+	2	0	TXNDC3	37890496	0.999000	0.42202	0.690000	0.30148	0.046000	0.14306	3.986000	0.56937	2.482000	0.83794	0.580000	0.79431	TCG		0.294	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		T	37923971	C	T	37923971	3	4	65	1	0	0	0	0	1	0	0	0	16795	893	31	2	1103	2	TXNDC3	7	37923971	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	143902	37923971	121214692	22	4279											
AMPH	273	broad.mit.edu	37	chr7	38530706	38530706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagcaaggacccatccaCgagtttttgatggaagtctt	10	13	10	8	1	1	1	0	1	1	0	2	4	2	3	2	2	1	3	2	2	3	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:38530706C>T	ENST00000356264.2	-	5	555	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	AMPH_ENST00000325590.5_Missense_Mutation_p.V114M|AMPH_ENST00000428293.2_Missense_Mutation_p.V114M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.V114M(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GACCCATCCACGAGTTTTTGA	0.403																																						uc003tgu.3																			1	Substitution - Missense(1)	p.V114M(2)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(340-342)Gtg>Atg		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.							164	160	161					7																	38530706		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530706C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.340G>A	7.37:g.38530706C>T	ENSP00000348602:p.Val114Met					AMPH_uc003tgv.3_Missense_Mutation_p.V114M	p.V114M	NM_001635	NP_001626	P49418	AMPH_HUMAN			4	556	-			114			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.340G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433310	0.83776	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.63255	-0.03;-0.03;-0.03	5.36	5.36	0.76844	BAR (3);	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81775	-0.0778	10	0.51188	T	0.08	-22.8042	17.8497	0.88742	0.0:1.0:0.0:0.0	.	114;114	P49418-2;P49418	.;AMPH_HUMAN	M	114	ENSP00000317441:V114M;ENSP00000348602:V114M;ENSP00000390734:V114M	ENSP00000317441:V114M	V	-	1	0	AMPH	38497231	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.797000	0.75150	2.512000	0.84698	0.460000	0.39030	GTG		0.403	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38530706	C	T	38530706	3	4	65	1	0	0	0	0	1	0	0	0	588	536	19	1	1815	1	AMPH	7	38530706	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	606735	38530706	120607957	23	4280											
ABCB4	5244	broad.mit.edu	37	chr7	87035603	87035603	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctactctttaacttaCgtggggtaacgtctcgatga	9	14	9	9	3	3	1	1	1	2	0	4	2	3	1	0	2	5	2	0	2	4	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:87035603C>T	ENST00000265723.4	-	26	3619		c.e26+1		ABCB4_ENST00000358400.3_Splice_Site|ABCB4_ENST00000359206.3_Splice_Site|ABCB4_ENST00000545634.1_Splice_Site|ABCB4_ENST00000453593.1_Splice_Site	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4						cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTTAACTTACGTGGGGTAAC	0.393																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e26+1		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							118	112	114					7																	87035603		2203	4300	6503	SO:0001630	splice_region_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035603C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3507+1G>A	7.37:g.87035603C>T						ABCB4_uc003uiw.1_Splice_Site_p.H1162_splice|ABCB4_uc003uix.1_Splice_Site_p.H1115_splice	p.H1169_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN			26	3583	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1169			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Splice_Site	SNP	ENST00000265723.4	37	c.3507_splice	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812317	0.32053	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5955	0.68403	0.0:0.9298:0.0:0.0702	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB4	86873539	1.000000	0.71417	0.883000	0.34634	0.118000	0.20060	7.674000	0.83992	1.473000	0.48159	0.557000	0.71058	.		0.393	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	Intron	T	87035603	C	T	87035603	5	4	65	1	0	0	0	0	0	0	1	0	43	550	19	1	364	1	ABCB4	7	87035603	Splice_Site	SNP	C	TCGA-06-0875-01A-01W-0424-08	48504897	87035603	72103060	24	4281											
SAMD9L	219285	broad.mit.edu	37	chr7	92763951	92763951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagattcaggatcaaacTccaacacagcaaaccattta	17	9	4	11	0	3	1	3	0	0	1	4	2	4	2	2	1	4	1	2	1	5	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:92763951T>C	ENST00000318238.4	-	5	2550	c.1334A>G	c.(1333-1335)gAg>gGg	p.E445G	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E445G|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E445G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	445					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATCAAACTCCAACACAGC	0.343																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1333-1335)gAg>gGg		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							69	70	70					7																	92763951		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763951T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1334A>G	7.37:g.92763951T>C	ENSP00000326247:p.Glu445Gly					SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc022ahh.1_Missense_Mutation_p.E445G	p.E445G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	2550	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		445					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1334A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069284	0.55539	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13778	2.56;2.56;2.56	4.74	4.74	0.60224	.	0.239962	0.30374	N	0.009767	T	0.19005	0.0456	L	0.46157	1.445	0.41726	D	0.989534	P	0.46142	0.873	P	0.46659	0.523	T	0.01266	-1.1401	10	0.72032	D	0.01	-4.3283	14.0508	0.64734	0.0:0.0:0.0:1.0	.	445	Q8IVG5	SAM9L_HUMAN	G	445	ENSP00000326247:E445G;ENSP00000405760:E445G;ENSP00000408796:E445G	ENSP00000326247:E445G	E	-	2	0	SAMD9L	92601887	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.796000	0.85898	1.991000	0.58162	0.377000	0.23210	GAG		0.343	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92763951	T	C	92763951	3	2	65	1	0	0	0	0	1	0	0	0	13827	1551	54	4	3424	4	SAMD9L	7	92763951	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	5728348	92763951	66374712	25	4282											
TFPI2	7980	broad.mit.edu	37	chr7	93518519	93518519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacactcacttgcagccgGcaaactttgggaacttctag	10	10	8	13	1	2	0	1	0	1	0	3	1	3	1	2	2	4	2	2	2	3	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:93518519G>A	ENST00000222543.5	-	3	600	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398																																						uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(286-288)tgC>tgT		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							58	69	66					7																	93518519		2202	4299	6501	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93518519G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.288C>T	7.37:g.93518519G>A						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C	p.C96C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	363	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		96			BPTI/Kunitz inhibitor 2.		Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.288C>T	CCDS5632.1																																																																																				0.398	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		A	93518519	G	A	93518519	2	1	65	1	0	0	0	0	0	0	0	1	15806	1195	42	3		3	TFPI2	7	93518519	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	754568	93518519	65620144	26	4283											
CYP3A43	64816	broad.mit.edu	37	chr7	99447306	99447306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattttttggatcccttttTactcttaatatgtatgtgga	8	20	8	5	0	1	0	0	0	1	0	2	3	2	3	1	3	1	1	1	3	4	9			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:99447306T>C	ENST00000354829.2	+	7	762	c.659T>C	c.(658-660)tTa>tCa	p.L220S	CYP3A43_ENST00000222382.5_Missense_Mutation_p.L220S|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Silent_p.F82F|CYP3A43_ENST00000312017.5_Missense_Mutation_p.L220S	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	220			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GATCCCTTTTTACTCTTAATA	0.294																																						uc003ury.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(658-660)tTa>tCa		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	Cetirizine(DB00341)|Doxycycline(DB00254)						64	64	64					7																	99447306		2202	4300	6502	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99447306T>C	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.659T>C	7.37:g.99447306T>C	ENSP00000346887:p.Leu220Ser					CYP3A43_uc003urx.1_Missense_Mutation_p.L220S|CYP3A43_uc003urz.1_Missense_Mutation_p.L220S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.F82F	p.L220S	NM_022820	NP_073731	Q9HB55	CP343_HUMAN			6	762	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		220		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.659T>C	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824764	0.32237	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.68765	-0.35;-0.35;-0.35	3.14	1.73	0.24493	.	0.779508	0.12210	N	0.489379	T	0.63141	0.2486	L	0.57130	1.785	0.80722	D	1	B;B;B	0.31503	0.264;0.326;0.326	B;B;B	0.38921	0.187;0.285;0.209	T	0.59327	-0.7475	10	0.62326	D	0.03	.	5.6767	0.17753	0.0:0.2068:0.0:0.7932	.	220;220;220	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	S	220	ENSP00000346887:L220S;ENSP00000312110:L220S;ENSP00000222382:L220S	ENSP00000222382:L220S	L	+	2	0	CYP3A43	99285242	0.673000	0.27539	0.000000	0.03702	0.524000	0.34500	5.110000	0.64622	0.248000	0.21435	0.164000	0.16699	TTA		0.294	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			C	99447306	T	C	99447306	3	2	65	1	0	0	0	0	1	0	0	0	4179	1764	61	4	685	4	CYP3A43	7	99447306	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	5928787	99447306	59691357	27	4284											
C7orf52	375607	broad.mit.edu	37	chr7	100816793	100816793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatcacgttcaccgactcCagcgcgatctgcggaccgag	8	7	11	15	7	3	0	2	0	1	0	5	5	4	1	3	1	2	1	3	1	0	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:100816793C>T	ENST00000300303.2	-	3	559	c.321G>A	c.(319-321)ctG>ctA	p.L107L	NAT16_ENST00000455377.1_Silent_p.L107L	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	107	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										TCACCGACTCCAGCGCGATCT	0.736																																						uc003uxy.2																			0											c.(319-321)ctG>ctA		Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.							19	20	20					7																	100816793		2195	4289	6484	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100816793C>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.321G>A	7.37:g.100816793C>T						NAT16_uc003uxz.2_Silent_p.L107L	p.L107L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			2	560	-			107			N-acetyltransferase.		B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.321G>A	CCDS5713.1																																																																																				0.736	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		T	100816793	C	T	100816793	2	4	65	1	0	0	0	0	0	0	0	1	2401	581	21	3		3	C7orf52	7	100816793	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	1369487	100816793	58321870	28	4285											
CTAGE4	100128553	broad.mit.edu	37	chr7	143882703	143882703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttgctccaatcagcGgtccattgtttccagtggat	7	13	8	13	1	2	0	1	0	1	0	5	1	5	1	4	2	2	2	4	2	1	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:143882703G>A	ENST00000486333.1	+	1	2145	c.2107G>A	c.(2107-2109)Ggt>Agt	p.G703S		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	703	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TCCAATCAGCGGTCCATTGTT	0.502																																						uc010lpc.3																			0				endometrium(1)|ovary(2)	3						c.(2107-2109)Ggt>Agt		Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.							10	12	11					7																	143882703		655	1495	2150	SO:0001583	missense	100128553					integral to membrane		g.chr7:143882703G>A	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2107G>A	7.37:g.143882703G>A	ENSP00000419539:p.Gly703Ser						p.G703S	NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN			0	2156	+			703			Pro-rich.		A8K871|O95046	Missense_Mutation	SNP	ENST00000486333.1	37	c.2107G>A	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	5.850	0.341078	0.11069	.	.	ENSG00000225932	ENST00000486333	T	0.09073	3.02	.	.	.	.	.	.	.	.	T	0.09202	0.0227	M	0.77103	2.36	0.09310	N	1	P	0.39060	0.657	B	0.32533	0.147	T	0.23368	-1.0190	7	0.29301	T	0.29	.	.	.	.	.	703	Q8IX94	CTGE4_HUMAN	S	703	ENSP00000419539:G703S	ENSP00000419539:G703S	G	+	1	0	CTAGE4	143513636	0.997000	0.39634	0.013000	0.15412	0.014000	0.08584	0.488000	0.22371	0.172000	0.19760	0.175000	0.17021	GGT		0.502	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		A	143882703	G	A	143882703	3	1	65	1	0	0	0	0	1	0	0	0	3993	1116	39	2	2109	2	CTAGE4	7	143882703	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	43065910	143882703	15255960	29	4286											
ADAM32	203102	broad.mit.edu	37	chr8	39080734	39080734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatgatctcgatgcacGttgtgagagtgtatttggaa	9	13	12	7	2	1	2	0	2	1	1	2	5	1	3	1	1	2	3	1	1	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39080734G>A	ENST00000379907.4	+	14	1629	c.1502G>A	c.(1501-1503)cGt>cAt	p.R501H	ADAM32_ENST00000519315.1_Missense_Mutation_p.R395H|ADAM32_ENST00000437682.2_Missense_Mutation_p.R402H	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	501	Cys-rich.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCGATGCACGTTGTGAGAGT	0.338																																						uc003xmt.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1501-1503)cGt>cAt		Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.							53	51	52					8																	39080734		1896	4114	6010	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39080734G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1502G>A	8.37:g.39080734G>A	ENSP00000369238:p.Arg501His					ADAM32_uc011lch.2_Missense_Mutation_p.R402H|ADAM32_uc003xmu.4_Missense_Mutation_p.R395H|ADAM32_uc003xmv.3_Missense_Mutation_p.V23I	p.R501H	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		13	1747	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	501			Cys-rich.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1502G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980193	0.34942	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.22336	1.96;1.96;1.96	5.55	-1.39	0.08997	ADAM, cysteine-rich (2);	1.762100	0.03866	N	0.274897	T	0.22322	0.0538	N	0.16602	0.42	0.09310	N	1	D;B;B	0.64830	0.994;0.397;0.017	P;B;B	0.62014	0.897;0.025;0.023	T	0.11743	-1.0575	10	0.54805	T	0.06	.	0.6898	0.00889	0.2765:0.1258:0.341:0.2566	.	402;395;501	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	H	402;395;501	ENSP00000405978:R402H;ENSP00000429422:R395H;ENSP00000369238:R501H	ENSP00000369238:R501H	R	+	2	0	ADAM32	39199891	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.743000	0.04845	-0.225000	0.09913	-0.169000	0.13324	CGT		0.338	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39080734	G	A	39080734	3	1	65	1	0	0	0	0	1	0	0	0	249	1145	40	1	1556	1	ADAM32	8	39080734	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		39080734	107283288	30	4287											
IDO1	3620	broad.mit.edu	37	chr8	39785510	39785510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcctgtgtgaaagctctgGtctccctgaggagctaccat	8	10	11	12	1	2	2	0	2	2	0	3	3	2	3	3	2	3	2	3	2	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39785510G>C	ENST00000518237.1	+	10	1657	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L	IDO1_ENST00000522495.1_Missense_Mutation_p.V340L|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	340					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GAAAGCTCTGGTCTCCCTGAG	0.498																																						uc003xnm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(1018-1020)Gtc>Ctc		Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	L-Tryptophan(DB00150)						53	50	51					8																	39785510		1972	4174	6146	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39785510G>C	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.1018G>C	8.37:g.39785510G>C	ENSP00000430950:p.Val340Leu						p.V340L	NM_002164	NP_002155	P14902	I23O1_HUMAN			9	1132	+			340					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.1018G>C	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709998	0.48517	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.42131	0.98;0.98	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000008	T	0.51500	0.1678	M	0.69248	2.105	0.35668	D	0.813129	P	0.50369	0.934	P	0.49953	0.627	T	0.61347	-0.7081	9	.	.	.	-30.2412	14.5883	0.68344	0.0:0.0:1.0:0.0	.	340	P14902	I23O1_HUMAN	L	340	ENSP00000430505:V340L;ENSP00000430950:V340L	.	V	+	1	0	IDO1	39904667	1.000000	0.71417	0.987000	0.45799	0.011000	0.07611	2.325000	0.43840	2.817000	0.96982	0.563000	0.77884	GTC		0.498	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		C	39785510	G	C	39785510	3	2	65	1	0	0	0	0	1	0	0	0	7501	1261	44	5	1056	5	IDO1	8	39785510	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	704776	39785510	106578512	31	4288											
NIPAL2	79815	broad.mit.edu	37	chr8	99215392	99215392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactggcaccactgttgtcGtattgtagagtttcgtggct	7	15	11	8	2	0	1	0	0	0	1	2	1	0	1	1	2	1	6	1	2	3	6	rs145862248		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:99215392G>A	ENST00000341166.3	-	8	1079	c.824C>T	c.(823-825)aCg>aTg	p.T275M	NIPAL2_ENST00000430223.2_Missense_Mutation_p.T275M|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	275						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CACTGTTGTCGTATTGTAGAG	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		24112	0		0	False		,,,				2504	0					uc003yim.1																			0				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						c.(823-825)aCg>aTg		Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.		G	MET/THR	0,4406		0,0,2203	194	167	176		824	1.5	0	8	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NIPAL2	NM_024759.1	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	275/369	99215392	2,13004	2203	4300	6503	SO:0001583	missense	79815					integral to membrane		g.chr8:99215392G>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.824C>T	8.37:g.99215392G>A	ENSP00000339256:p.Thr275Met					NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yil.1_Missense_Mutation_p.T275M	p.T275M			Q9H841	NPAL2_HUMAN			7	1080	-			275					A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	c.824C>T	CCDS6278.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.597	-0.082407	0.07141	0.0	2.33E-4	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.90788	-2.73;-2.73	5.39	1.51	0.23008	.	0.276090	0.36338	N	0.002655	D	0.83358	0.5237	L	0.32530	0.975	0.09310	N	1	B;B	0.25667	0.131;0.039	B;B	0.26693	0.072;0.024	T	0.72354	-0.4319	10	0.41790	T	0.15	-5.7242	9.2729	0.37681	0.302:0.0:0.698:0.0	.	275;275	A2RTY8;Q9H841	.;NPAL2_HUMAN	M	275	ENSP00000407087:T275M;ENSP00000339256:T275M	ENSP00000339256:T275M	T	-	2	0	NIPAL2	99284568	0.057000	0.20700	0.002000	0.10522	0.127000	0.20565	1.106000	0.31098	0.330000	0.23485	-0.252000	0.11476	ACG		0.393	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		A	99215392	G	A	99215392	3	1	65	1	0	0	0	0	1	0	0	0	10425	1145	40	1	302	1	NIPAL2	8	99215392	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	59429882	99215392	47148630	32	4289											
KANK1	23189	broad.mit.edu	37	chr9	730069	730069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcaattatttgggatataCctgtaagtgtgggggccttc	9	13	13	6	0	0	0	0	0	0	0	1	1	0	1	2	4	1	2	2	4	5	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:730069C>G	ENST00000382303.1	+	8	3369	c.2717C>G	c.(2716-2718)aCc>aGc	p.T906S	KANK1_ENST00000382293.3_Missense_Mutation_p.T748S|KANK1_ENST00000382297.2_Missense_Mutation_p.T906S|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	906					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGGGATATACCTGTAAGTGT	0.473																																						uc003zgl.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(2716-2718)aCc>aGc		Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.							50	49	49					9																	730069		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:730069C>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2717C>G	9.37:g.730069C>G	ENSP00000371740:p.Thr906Ser					KANK1_uc003zgm.3_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	p.T906S	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	3366	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	906					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.2717C>G	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	2.169	-0.390340	0.04932	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.17691	2.26;2.26;2.26	5.48	0.877	0.19145	.	0.911025	0.09374	N	0.810952	T	0.09686	0.0238	L	0.27053	0.805	0.18873	N	0.999989	B;B	0.13594	0.008;0.002	B;B	0.11329	0.006;0.002	T	0.42865	-0.9426	10	0.11485	T	0.65	-0.4499	4.8193	0.13383	0.0:0.4828:0.1615:0.3556	.	906;906	Q5W0W1;Q14678	.;KANK1_HUMAN	S	906;906;906;748	ENSP00000371740:T906S;ENSP00000371734:T906S;ENSP00000371730:T748S	ENSP00000346479:T906S	T	+	2	0	KANK1	720069	0.000000	0.05858	0.151000	0.22473	0.051000	0.14879	0.348000	0.20031	0.267000	0.21916	0.655000	0.94253	ACC		0.473	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		G	730069	C	G	730069	3	3	65	1	0	0	0	0	1	0	0	0	7976	507	18	5	2727	5	KANK1	9	730069	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		730069	140483362	33	4290											
RUSC2	9853	broad.mit.edu	37	chr9	35560384	35560384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggagacagaagaGgtggcagaggcagccggggg	14	1	21	5	1	0	6	0	0	0	6	0	8	0	6	1	6	1	2	1	6	3	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:35560384G>T	ENST00000455600.1	+	10	4316	c.3747G>T	c.(3745-3747)gaG>gaT	p.E1249D	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1249	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agacagaagaggtggcagagg	0.662																																						uc003zww.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3745-3747)gaG>gaT		Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.							25	32	30					9																	35560384		2202	4294	6496	SO:0001583	missense	9853					cytosol		g.chr9:35560384G>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3747G>T	9.37:g.35560384G>T	ENSP00000393922:p.Glu1249Asp					RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1249D	p.E1249D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		9	4002	+			1249			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3747G>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503313	0.26949	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.26223	1.75;1.75	5.19	0.867	0.19085	.	0.791890	0.11643	N	0.543606	T	0.13586	0.0329	N	0.24115	0.695	0.28113	N	0.930905	B	0.21071	0.051	B	0.21917	0.037	T	0.28681	-1.0036	10	0.23891	T	0.37	-3.9593	3.3091	0.07010	0.4283:0.0:0.3793:0.1923	.	1249	Q8N2Y8	RUSC2_HUMAN	D	1249	ENSP00000355177:E1249D;ENSP00000393922:E1249D	ENSP00000355177:E1249D	E	+	3	2	RUSC2	35550384	0.016000	0.18221	1.000000	0.80357	0.955000	0.61496	0.108000	0.15396	0.586000	0.29626	-0.254000	0.11334	GAG		0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		T	35560384	G	T	35560384	3	4	65	1	0	0	0	0	1	0	0	0	13751	991	35	5	3781	5	RUSC2	9	35560384	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	34830315	35560384	105653047	34	4291											
TMEM2	23670	broad.mit.edu	37	chr9	74305126	74305126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacaacaaggaggaggaCgcctgcacttcggaaggtaa	14	5	12	10	2	0	0	0	0	0	0	2	4	1	4	2	5	2	2	2	5	4	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:74305126C>T	ENST00000377044.4	-	22	4272	c.3733G>A	c.(3733-3735)Gtc>Atc	p.V1245I	TMEM2_ENST00000377066.5_Missense_Mutation_p.V1182I|TMEM2_ENST00000396272.3_Missense_Mutation_p.V238I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1245					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGGAGGACGCCTGCACTT	0.453																																						uc011lsa.1																			0		p.G1244G(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(3733-3735)Gtc>Atc		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							115	93	100					9																	74305126		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74305126C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3733G>A	9.37:g.74305126C>T	ENSP00000366243:p.Val1245Ile					TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.V79I	p.V1245I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	21	4273	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1245					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3733G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	2.444	-0.327872	0.05314	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.71934	-0.61;-0.54;2.61	5.77	1.52	0.23074	.	0.516007	0.22037	N	0.065517	T	0.31765	0.0807	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32322	-0.9911	10	0.02654	T	1	.	3.2722	0.06886	0.1994:0.4476:0.2146:0.1385	.	1245;1182	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	I	1245;1182;238	ENSP00000366243:V1245I;ENSP00000366266:V1182I;ENSP00000379569:V238I	ENSP00000366243:V1245I	V	-	1	0	TMEM2	73494946	0.000000	0.05858	0.136000	0.22124	0.084000	0.17831	-0.907000	0.04067	0.362000	0.24319	0.650000	0.86243	GTC		0.453	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74305126	C	T	74305126	3	4	65	1	0	0	0	0	1	0	0	0	16118	536	19	1	430	1	TMEM2	9	74305126	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	38744742	74305126	66908305	35	4292											
TMC1	117531	broad.mit.edu	37	chr9	75387401	75387401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattggatggatgaatttcAggttgccgctctcctatttt	8	16	9	8	1	2	1	1	1	1	0	3	3	2	3	2	3	1	2	2	3	3	6	rs111839361		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:75387401A>T	ENST00000297784.5	+	13	1354	c.814A>T	c.(814-816)Agg>Tgg	p.R272W	TMC1_ENST00000340019.3_Missense_Mutation_p.R272W|TMC1_ENST00000396237.3_Missense_Mutation_p.R272W	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	272					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGAATTTCAGGTTGCCGCT	0.398																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0		p.R272K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(814-816)Agg>Tgg		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							222	218	220					9																	75387401		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75387401A>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.814A>T	9.37:g.75387401A>T	ENSP00000297784:p.Arg272Trp					TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W	p.R272W	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			12	1354	+			272					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.814A>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929575	0.73327	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.50813	0.73;0.73;0.73	5.57	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.89478	3.035	0.49483	D	0.999798	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.986;0.986;0.997	T	0.75260	-0.3380	10	0.72032	D	0.01	-23.2604	12.6673	0.56849	0.5901:0.4099:0.0:0.0	.	239;239;272	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	W	272;272;239;239;239;266;272	ENSP00000297784:R272W;ENSP00000341433:R272W;ENSP00000379538:R272W	ENSP00000297784:R272W	R	+	1	2	TMC1	74577221	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	1.313000	0.33585	0.424000	0.26061	0.528000	0.53228	AGG		0.398	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			T	75387401	A	T	75387401	3	4	65	1	0	0	0	0	1	0	0	0	15981	179	7	5	848	5	TMC1	9	75387401	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	1082275	75387401	65826030	36	4293											
AGPAT2	10555	broad.mit.edu	37	chr9	139568283	139568283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtggaggaaggtggtcCtcatggcccggtggcaggtg	7	8	19	7	1	1	1	1	0	0	1	2	3	2	3	2	8	0	1	2	8	1	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:139568283C>A	ENST00000371696.2	-	6	823	c.758G>T	c.(757-759)aGg>aTg	p.R253M	AGPAT2_ENST00000538402.1_Missense_Mutation_p.R253M|AGPAT2_ENST00000371694.3_Missense_Mutation_p.R221M	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	253					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGGTGGTCCTCATGGCCCG	0.682																																						uc004cii.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(757-759)aGg>aTg		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.							45	47	47					9																	139568283		2197	4296	6493	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139568283C>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.758G>T	9.37:g.139568283C>A	ENSP00000360761:p.Arg253Met					AGPAT2_uc004cij.1_Missense_Mutation_p.R221M	p.R253M	NM_006412	NP_006403	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	5	860	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	253					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.758G>T	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505005	0.44558	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.93189	-3.18;-3.18;-3.18	5.23	4.12	0.48240	.	0.124633	0.49305	D	0.000144	D	0.90731	0.7091	L	0.38692	1.165	0.47819	D	0.99952	P;P	0.40909	0.732;0.613	P;B	0.44696	0.458;0.269	D	0.90157	0.4225	10	0.40728	T	0.16	-8.1386	13.7886	0.63126	0.0:0.9115:0.0:0.0885	.	221;253	O15120-2;O15120	.;PLCB_HUMAN	M	221;253;253	ENSP00000360759:R221M;ENSP00000360761:R253M;ENSP00000438919:R253M	ENSP00000360759:R221M	R	-	2	0	AGPAT2	138688104	0.696000	0.27757	0.949000	0.38748	0.537000	0.34900	1.106000	0.31098	2.441000	0.82636	0.655000	0.94253	AGG		0.682	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		A	139568283	C	A	139568283	3	1	65	1	0	0	0	0	1	0	0	0	387	681	24	5	82	5	AGPAT2	9	139568283	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	64180882	139568283	1645148	37	4294											
PTEN	5728	broad.mit.edu	37	chr10	89717712	89717712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactttgagttccctcagcCgttacctgtgtgtggtgata	6	15	11	9	1	1	2	1	2	0	0	2	2	2	2	3	1	3	3	3	1	3	5	rs587782350		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89717712C>T	ENST00000371953.3	+	7	2094	c.737C>T	c.(736-738)cCg>cTg	p.P246L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	246	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		P -> L (in CWS1 and BRRS). {ECO:0000269|PubMed:10400993}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P246L(7)|p.R55fs*1(5)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.P246fs*11(1)|p.P246_L247insGP(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCCCTCAGCCGTTACCTGTG	0.418		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		62	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(7)|Insertion - Frameshift(5)|Deletion - In frame(1)|Insertion - In frame(1)|Unknown(1)	p.0?(37)|p.P246L(15)|p.Q245*(8)|p.R55fs*1(5)|p.P246fs*11(3)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.G165_*404del(1)	prostate(16)|central_nervous_system(14)|haematopoietic_and_lymphoid_tissue(8)|skin(8)|lung(5)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM991083	PTEN	M		c.(736-738)cCg>cTg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							136	117	124					10																	89717712		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717712C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.737C>T	10.37:g.89717712C>T	ENSP00000361021:p.Pro246Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.P246L	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1769	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	246		P -> L (in CD and BZS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.737C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825454	0.71143	.	.	ENSG00000171862	ENST00000371953	D	0.86030	-2.06	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.103668	0.64402	D	0.000002	D	0.82797	0.5115	M	0.72118	2.19	0.80722	D	1	P	0.40731	0.728	B	0.30495	0.116	D	0.83816	0.0244	9	.	.	.	-5.2284	18.6161	0.91303	0.0:1.0:0.0:0.0	.	246	P60484	PTEN_HUMAN	L	246	ENSP00000361021:P246L	.	P	+	2	0	PTEN	89707692	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.452000	0.80683	2.380000	0.81148	0.585000	0.79938	CCG		0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717712	C	T	89717712	3	4	65	1	0	0	0	0	1	0	0	0	12738	652	23	2	763	2	PTEN	10	89717712	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		89717712	45817035	38	4295											
PTEN	5728	broad.mit.edu	37	chr10	89720659	89720659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttttaggacaaaatGtttcacttttgggtaaatac	11	20	6	4	0	1	0	1	0	0	0	1	1	1	1	0	2	1	2	0	2	6	10			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89720659G>A	ENST00000371953.3	+	8	2167	c.810G>A	c.(808-810)atG>atA	p.M270I	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	270	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.M270I(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACAAAATGTTTCACTTTT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M270I(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(808-810)atG>atA		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							24	25	25					10																	89720659		2177	4258	6435	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720659G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.810G>A	10.37:g.89720659G>A	ENSP00000361021:p.Met270Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.M270I	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1842	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	270			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.810G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729829	0.69074	.	.	ENSG00000171862	ENST00000371953	D	0.84223	-1.82	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	L	0.41236	1.265	0.80722	D	1	P	0.44195	0.828	B	0.43950	0.437	T	0.81835	-0.0750	9	.	.	.	-9.894	18.5632	0.91108	0.0:0.0:1.0:0.0	.	270	P60484	PTEN_HUMAN	I	270	ENSP00000361021:M270I	.	M	+	3	0	PTEN	89710639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.399000	0.81585	0.591000	0.81541	ATG		0.264	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89720659	G	A	89720659	3	1	65	1	0	0	0	0	1	0	0	0	12738	1377	48	3	840	3	PTEN	10	89720659	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	2947	89720659	45814088	39	4296											
MRGPRE	116534	broad.mit.edu	37	chr11	3249621	3249621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggtggtcaggtggcGtgggcggcggcacgagtacc	7	5	18	11	4	1	0	1	0	0	0	1	1	1	0	1	7	1	2	1	7	1	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:3249621G>A	ENST00000389832.5	-	2	715	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.R136C			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R136C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGGTGGCGTGGGCGGCGG	0.692																																						uc021qcj.1																			1	Substitution - Missense(1)	p.R136C(2)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(406-408)Cgc>Tgc		Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.							12	19	17					11																	3249621		2162	4263	6425	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249621G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.409C>T	11.37:g.3249621G>A	ENSP00000374482:p.Arg137Cys					MRGPRE_uc001lxq.4_Missense_Mutation_p.R136C	p.R136C	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	406	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	136					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.406C>T		.	.	.	.	.	.	.	.	.	.	g	14.50	2.553837	0.45487	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.46	0.0781	0.14411	GPCR, rhodopsin-like superfamily (1);	0.784752	0.10608	U	0.654779	T	0.56171	0.1967	M	0.70842	2.15	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.43360	-0.9396	9	0.66056	D	0.02	-18.8999	5.2251	0.15389	0.1117:0.0:0.3209:0.5673	.	136	Q86SM8	MRGRE_HUMAN	C	137;136	.	ENSP00000374482:R136C	R	-	1	0	MRGPRE	3206197	0.000000	0.05858	0.075000	0.20258	0.832000	0.47134	-1.254000	0.02874	-0.198000	0.10333	0.484000	0.47621	CGC		0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		A	3249621	G	A	3249621	3	1	65	1	0	0	0	0	1	0	0	0	9764	1145	40	1	533	1	MRGPRE	11	3249621	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		3249621	131756895	40	4297											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077538	19077538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtctggggcggcggcagcGataccagatgggccacagga	8	5	18	10	3	1	1	0	0	1	1	1	3	1	2	2	6	2	1	2	6	1	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:19077538G>A	ENST00000329773.2	-	2	499	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	138					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCGGCAGCGATACCAGATG	0.617																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.3																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(412-414)Cgc>Tgc		Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.							66	62	63					11																	19077538		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077538G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.412C>T	11.37:g.19077538G>A	ENSP00000333800:p.Arg138Cys					MRGPRX2_uc021qer.1_Missense_Mutation_p.R138C	p.R138C	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			1	500	-			138					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.412C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.912402	0.52439	.	.	ENSG00000183695	ENST00000329773	T	0.73469	-0.75	5.26	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.176763	0.40818	N	0.001008	T	0.78541	0.4299	M	0.87180	2.865	0.09310	N	1	P	0.51057	0.941	P	0.48627	0.584	T	0.72544	-0.4261	10	0.87932	D	0	.	6.1705	0.20414	0.0859:0.0:0.582:0.3321	.	138	Q96LB1	MRGX2_HUMAN	C	138	ENSP00000333800:R138C	ENSP00000333800:R138C	R	-	1	0	MRGPRX2	19034114	0.348000	0.24861	0.080000	0.20451	0.970000	0.65996	1.815000	0.38981	0.876000	0.35872	0.655000	0.94253	CGC		0.617	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		A	19077538	G	A	19077538	3	1	65	1	0	0	0	0	1	0	0	0	9767	1058	37	2	584	2	MRGPRX2	11	19077538	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	15827917	19077538	115928978	41	4298											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45925671	45925671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggggtgtctttcctgcctAttacgccatcgaggtcacca	6	11	10	14	3	2	0	1	0	1	0	4	1	3	0	5	3	2	0	5	3	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:45925671A>G	ENST00000241014.2	+	7	1795	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Y532C|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	542	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.Y542C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTCCTGCCTATTACGCCATC	0.602																																						uc001nbr.3																			1	Substitution - Missense(1)	p.Y542C(2)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1624-1626)tAt>tGt		Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.							84	67	73					11																	45925671		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45925671A>G		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1625A>G	11.37:g.45925671A>G	ENSP00000241014:p.Tyr542Cys						p.Y542C	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	6	1950	+			542			SH3.		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1625A>G	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485060	0.63962	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.48201	0.82;0.82	5.19	5.19	0.71726	Src homology-3 domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	L	0.36672	1.1	0.80722	D	1	P	0.38250	0.624	B	0.37601	0.254	T	0.44757	-0.9307	10	0.66056	D	0.02	-30.3091	15.3348	0.74244	1.0:0.0:0.0:0.0	.	542	Q9UQF2	JIP1_HUMAN	C	542;532	ENSP00000241014:Y542C;ENSP00000378991:Y532C	ENSP00000241014:Y542C	Y	+	2	0	MAPK8IP1	45882247	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.720000	0.47252	2.086000	0.62901	0.459000	0.35465	TAT		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		G	45925671	A	G	45925671	3	3	65	1	0	0	0	0	1	0	0	0	9284	449	16	4	1651	4	MAPK8IP1	11	45925671	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	26848133	45925671	89080845	42	4299											
OR5R1	219479	broad.mit.edu	37	chr11	56185215	56185215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccacagtaagtcagaCggaaagtgataacggtgtgg	12	8	15	6	2	1	2	1	1	0	1	1	3	1	3	1	4	1	1	1	4	3	3	rs138983419	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56185215C>T	ENST00000312253.1	-	1	493	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTAAGTCAGACGGAAAGTGAT	0.438													T|||	2	0.000399361	0.0015	0	5008	,	,		21603	0		0	False		,,,				2504	0					uc010rji.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(493-495)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.		T	HIS/ARG	4,4398	825.3+/-416.5	0,4,2197	110	109	109		494	-7	0	11	dbSNP_134	109	0,8592		0,0,4296	yes	missense	OR5R1	NM_001004744.1	29	0,4,6493	TT,TC,CC		0.0,0.0909,0.0308	benign	165/325	56185215	4,12990	2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185215C>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.494G>A	11.37:g.56185215C>T	ENSP00000308595:p.Arg165His					OR8U8_uc001nit.2_Intron	p.R165H	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			0	494	-	Esophageal squamous(21;0.00448)		165						Missense_Mutation	SNP	ENST00000312253.1	37	c.494G>A	CCDS31530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	3.271	-0.149157	0.06585	9.09E-4	0.0	ENSG00000174942	ENST00000312253	T	0.00169	8.63	5.91	-7.02	0.01589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.41573	1.285	0.09310	N	1	B	0.15473	0.013	B	0.21151	0.033	T	0.10636	-1.0621	9	0.35671	T	0.21	-0.3618	11.5731	0.50845	0.0:0.3192:0.1108:0.57	.	165	Q8NH85	OR5R1_HUMAN	H	165	ENSP00000308595:R165H	ENSP00000308595:R165H	R	-	2	0	OR5R1	55941791	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.581000	0.00906	-1.384000	0.02103	-1.370000	0.01191	CGT		0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		T	56185215	C	T	56185215	3	4	65	1	0	0	0	0	1	0	0	0	11180	536	19	1	482	1	OR5R1	11	56185215	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	10259544	56185215	78821301	43	4300											
LRRC55	219527	broad.mit.edu	37	chr11	56950146	56950146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgaaaccggatccagcGctgtacagcaggtaatagag	12	6	13	10	3	0	1	0	0	0	1	1	3	1	2	2	2	5	5	2	2	4	3	rs201169874		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56950146G>A	ENST00000497933.1	+	1	926	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	230	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R260H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGGATCCAGCGCTGTACAGCA	0.607																																						uc001njl.2																			1	Substitution - Missense(1)	p.R260H(2)|p.R260C(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(778-780)cGc>cAc		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.		G	HIS/ARG	0,4402		0,0,2201	64	60	61		779	5.5	1	11		61	1,8589	1.2+/-3.3	0,1,4294	yes	missense	LRRC55	NM_001005210.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	260/342	56950146	1,12991	2201	4295	6496	SO:0001583	missense	219527					integral to membrane		g.chr11:56950146G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.779G>A	11.37:g.56950146G>A	ENSP00000419542:p.Arg260His						p.R260H	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	926	+			230			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.779G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575277	0.65878	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.22336	1.96	5.53	5.53	0.82687	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000016	T	0.18718	0.0449	L	0.55481	1.735	0.53688	D	0.99997	P	0.36789	0.57	B	0.17433	0.018	T	0.03017	-1.1082	10	0.32370	T	0.25	.	16.3896	0.83531	0.0:0.0:1.0:0.0	.	230	Q6ZSA7	LRC55_HUMAN	H	260	ENSP00000419542:R260H	ENSP00000419542:R260H	R	+	2	0	LRRC55	56706722	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.630000	0.61297	2.608000	0.88229	0.561000	0.74099	CGC		0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		A	56950146	G	A	56950146	3	1	65	1	0	0	0	0	1	0	0	0	9011	1087	38	1	781	1	LRRC55	11	56950146	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	764931	56950146	78056370	44	4301											
RNF169	254225	broad.mit.edu	37	chr11	74546969	74546969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacagatctttcaggagCggcagatcaaaaagaccctt	14	7	11	9	1	3	3	2	0	1	3	3	5	3	5	1	3	2	1	1	3	3	2	rs372547886		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:74546969C>T	ENST00000299563.4	+	6	1334	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	441					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTTTCAGGAGCGGCAGATCAA	0.478																																						uc001ovl.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1321-1323)Cgg>Tgg		Homo sapiens ring finger protein 169 (RNF169), mRNA.							82	83	83					11																	74546969		1847	4090	5937	SO:0001583	missense	254225						zinc ion binding	g.chr11:74546969C>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1321C>T	11.37:g.74546969C>T	ENSP00000299563:p.Arg441Trp					XRRA1_uc001ovm.2_Intron	p.R441W	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			5	1334	+			441					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1321C>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904847	0.72868	.	.	ENSG00000166439	ENST00000299563	T	0.70986	-0.53	5.99	4.05	0.47172	.	0.061993	0.64402	D	0.000006	D	0.83198	0.5202	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85776	0.1358	10	0.87932	D	0	-1.8674	13.6175	0.62118	0.2806:0.7194:0.0:0.0	.	441	Q8NCN4	RN169_HUMAN	W	441	ENSP00000299563:R441W	ENSP00000299563:R441W	R	+	1	2	RNF169	74224617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.175000	0.42491	1.528000	0.49103	0.655000	0.94253	CGG		0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		T	74546969	C	T	74546969	3	4	65	1	0	0	0	0	1	0	0	0	13460	759	27	1	1343	1	RNF169	11	74546969	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	17596823	74546969	60459547	45	4302											
C12orf4	57102	broad.mit.edu	37	chr12	4643363	4643363	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtactcgccagctgatgtAaatctacttcacctgatttc	10	14	6	11	1	2	2	1	2	1	0	4	2	2	2	2	0	3	3	2	0	4	5			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:4643363A>C	ENST00000261250.3	-	3	371	c.284T>G	c.(283-285)tTa>tGa	p.L95*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.L95*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	95										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CAGCTGATGTAAATCTACTTC	0.393																																						uc001qms.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(283-285)tTa>tGa		Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.							89	83	85					12																	4643363		2203	4300	6503	SO:0001587	stop_gained	57102							g.chr12:4643363A>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.284T>G	12.37:g.4643363A>C	ENSP00000261250:p.Leu95*					C12orf4_uc001qmt.3_Nonsense_Mutation_p.L95*	p.L95*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	2	372	-			95					D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	c.284T>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	A	31	5.071679	0.93950	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.72	5.72	0.89469	.	0.263447	0.33180	N	0.005185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	14.5594	0.68126	1.0:0.0:0.0:0.0	.	.	.	.	X	95;95;48	.	ENSP00000261250:L95X	L	-	2	0	C12orf4	4513624	0.840000	0.29493	0.752000	0.31206	0.952000	0.60782	6.805000	0.75191	2.180000	0.69256	0.482000	0.46254	TTA		0.393	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		C	4643363	A	C	4643363	4	2	65	1	0	0	0	0	0	1	0	0	1685	372	13	5	1422	5	C12orf4	12	4643363	Nonsense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		4643363	129208532	46	4303											
CLSTN3	9746	broad.mit.edu	37	chr12	7295764	7295764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggggcccaggtccaCgtgaacccctcacagtccct	6	8	11	16	1	2	1	1	1	1	0	4	1	4	1	5	3	1	0	5	3	1	0	rs143198009	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:7295764C>T	ENST00000266546.6	+	12	2154	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	CLSTN3_ENST00000537408.1_Silent_p.H580H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	568					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCAGGTCCACGTGAACCCCT	0.612													C|||	1	0.000199681	0	0	5008	,	,		-128	0		0.001	False		,,,				2504	0					uc001qss.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1738-1740)caC>caT		Homo sapiens calsyntenin 3 (CLSTN3), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	90	82	85		1704	3.4	1	12	dbSNP_134	85	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CLSTN3	NM_014718.3		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		568/957	7295764	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295764C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1704C>T	12.37:g.7295764C>T						CLSTN3_uc001qsr.3_Silent_p.H568H	p.H580H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			10	2278	+			568					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1740C>T	CCDS8575.1																																																																																				0.612	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7295764	C	T	7295764	2	4	65	1	0	0	0	0	0	0	0	1	3563	535	19	1		1	CLSTN3	12	7295764	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	2652401	7295764	126556131	47	4304											
PPP1CC	5501	broad.mit.edu	37	chr12	111168342	111168342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagtacttacattcatcaTaaaatccataaattctgttg	17	14	3	7	0	3	0	2	0	1	0	4	0	4	0	1	0	2	2	1	0	8	7			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:111168342T>A	ENST00000335007.5	-	3	600	c.410A>T	c.(409-411)tAt>tTt	p.Y137F	PPP1CC_ENST00000546933.1_Missense_Mutation_p.Y146F|PPP1CC_ENST00000550991.1_Missense_Mutation_p.Y137F|PPP1CC_ENST00000340766.5_Missense_Mutation_p.Y137F|PPP1CC_ENST00000551690.1_5'Flank|PPP1CC_ENST00000551676.1_Missense_Mutation_p.Y137F	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	137					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						ACATTCATCATAAAATCCATA	0.308																																						uc001tru.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(409-411)tAt>tTt		Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.							50	55	53					12																	111168342		2203	4300	6503	SO:0001583	missense	5501				cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity	g.chr12:111168342T>A		CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9283	protein-coding gene	gene with protein product		176914	"protein phosphatase 1, catalytic subunit, gamma isoform"				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.410A>T	12.37:g.111168342T>A	ENSP00000335084:p.Tyr137Phe					PPP1CC_uc021rdx.1_Missense_Mutation_p.Y137F	p.Y137F	NM_002710	NP_002701	P36873	PP1G_HUMAN			2	681	-			137						Missense_Mutation	SNP	ENST00000335007.5	37	c.410A>T	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853992	0.71719	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.49	5.49	0.81192	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.37897	1.145	0.58432	D	0.999999	B	0.33171	0.4	B	0.42214	0.38	T	0.09335	-1.0679	10	0.62326	D	0.03	-17.0008	15.8838	0.79226	0.0:0.0:0.0:1.0	.	137	P36873	PP1G_HUMAN	F	137;137;146;137;137	ENSP00000335084:Y137F;ENSP00000341779:Y137F;ENSP00000447122:Y146F;ENSP00000448981:Y137F;ENSP00000448437:Y137F	ENSP00000335084:Y137F	Y	-	2	0	PPP1CC	109652725	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.910000	0.87451	2.216000	0.71823	0.379000	0.24179	TAT		0.308	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1			A	111168342	T	A	111168342	3	1	65	1	0	0	0	0	1	0	0	0	12351	1406	49	5	581	5	PPP1CC	12	111168342	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	103872578	111168342	22683553	48	4305											
DNAH10	196385	broad.mit.edu	37	chr12	124416577	124416577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccctaatatctggagaagGcttgctcctgacaccttaaa	12	11	7	11	0	1	2	0	1	1	1	3	3	3	2	3	2	1	2	3	2	5	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:124416577G>A	ENST00000409039.3	+	75	12889	c.12864G>A	c.(12862-12864)agG>agA	p.R4288R	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4288					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGGAGAAGGCTTGCTCCTG	0.493																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12862-12864)agG>agA		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							95	99	98					12																	124416577		1964	4152	6116	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416577G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12864G>A	12.37:g.124416577G>A						DNAH10_uc001ufu.4_Silent_p.R201R	p.R4288R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	74	12889	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4288					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12864G>A	CCDS9255.2																																																																																				0.493	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124416577	G	A	124416577	2	1	65	1	0	0	0	0	0	0	0	1	4598	1194	42	3		3	DNAH10	12	124416577	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	13248235	124416577	9435318	49	4306											
MDGA2	161357	broad.mit.edu	37	chr14	47351248	47351248	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgaaaggctacttaccActatatttgatcacacgaat	16	12	5	8	1	1	2	1	2	0	0	1	3	1	2	1	1	2	1	1	1	8	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:47351248A>G	ENST00000399232.2	-	11	2572	c.2208T>C	c.(2206-2208)agT>agC	p.S736S	MDGA2_ENST00000357362.3_Splice_Site_p.S507S|MDGA2_ENST00000426342.1_Splice_Site_p.S507S|MDGA2_ENST00000439988.3_Splice_Site_p.S805S|MDGA2_ENST00000399222.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	736	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTACTTACCACTATATTTGA	0.313																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.e11+1		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							34	30	31					14																	47351248		1803	4071	5874	SO:0001630	splice_region_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351248A>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2209+1T>C	14.37:g.47351248A>G						MDGA2_uc001wwh.4_Splice_Site|MDGA2_uc001wwi.4_Splice_Site_p.A508_splice|MDGA2_uc010ani.3_Splice_Site_p.A297_splice	p.A806_splice	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			11	2574	-			737			MAM.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.2416_splice																																																																																					0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	Silent	G	47351248	A	G	47351248	5	3	65	1	0	0	0	0	0	0	1	0	9407	173	6	4	690	4	MDGA2	14	47351248	Splice_Site	SNP	A	TCGA-06-0875-01A-01W-0424-08		47351248	59998292	50	4307											
CDKL1	8814	broad.mit.edu	37	chr14	50808934	50808934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggcttcacgtctctatGtatgcactagtgtaacaaat	10	15	7	9	1	3	0	1	0	2	0	4	0	3	0	0	1	2	4	0	1	5	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:50808934G>A	ENST00000216378.2	-	5	1017	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	CDKL1_ENST00000395834.1_Missense_Mutation_p.H125Y|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACGTCTCTATGTATGCACTAG	0.333																																						uc010anu.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(2386-2388)Cat>Tat		Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.							119	103	108					14																	50808934		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50808934G>A	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.373C>T	14.37:g.50808934G>A	ENSP00000216378:p.His125Tyr					CDKL1_uc001wxz.3_Missense_Mutation_p.H125Y	p.H796Y	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			16	2386	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		124					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37	c.2386C>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.642393	0.87859	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.72051	-0.62;-0.62	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87585	0.6214	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89785	0.3964	9	0.87932	D	0	.	19.2866	0.94077	0.0:0.0:1.0:0.0	.	796;124	Q00532-2;Q00532	.;CDKL1_HUMAN	Y	125	ENSP00000379176:H125Y;ENSP00000216378:H125Y	ENSP00000216378:H125Y	H	-	1	0	CDKL1	49878684	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.359000	0.97115	2.723000	0.93209	0.655000	0.94253	CAT		0.333	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			A	50808934	G	A	50808934	3	1	65	1	0	0	0	0	1	0	0	0	3153	1377	48	3	727	3	CDKL1	14	50808934	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	3457686	50808934	56540606	51	4308											
NIN	51199	broad.mit.edu	37	chr14	51196324	51196324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctgcagcagctggcGttgaagctgcagaaactgct	8	10	12	11	1	1	2	0	1	1	1	1	2	1	2	1	1	8	7	1	1	2	2	rs144624455	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:51196324G>A	ENST00000382041.3	-	29	6185	c.5995C>T	c.(5995-5997)Cgc>Tgc	p.R1999C	NIN_ENST00000389868.3_3'UTR|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.R1999C|NIN_ENST00000530997.2_Missense_Mutation_p.R1999C|NIN_ENST00000382043.4_Missense_Mutation_p.R1286C|NIN_ENST00000453196.1_Missense_Mutation_p.R1999C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1999					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCAGCTGGCGTTGAAGCTGC	0.567			T	PDGFRB	MPD								G|||	4	0.000798722	0	0	5008	,	,		16119	0.003		0	False		,,,				2504	0.001					uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(5995-5997)Cgc>Tgc		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							134	121	125					14																	51196324		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51196324G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5995C>T	14.37:g.51196324G>A	ENSP00000371472:p.Arg1999Cys					NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R1999C|NIN_uc001wyk.3_Missense_Mutation_p.R1286C|NIN_uc001wyo.3_Missense_Mutation_p.R1999C|NIN_uc001wyn.3_Non-coding_Transcript	p.R1999C	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			28	6186	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1999					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5995C>T	CCDS32079.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	15.91|15.91	2.973517|2.973517	0.53720|0.53720	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.30182|.	1.54;2.61;3.14;3.17|.	5.23|5.23	3.3|3.3	0.37823|0.37823	.|.	0.846343|.	0.10748|.	N|.	0.638643|.	T|T	0.32793|0.32793	0.0841|0.0841	N|N	0.22421|0.22421	0.69|0.69	0.42852|0.42852	D|D	0.994081|0.994081	P;P;P;P;P|.	0.52842|.	0.939;0.956;0.956;0.712;0.956|.	P;B;B;B;B|.	0.45712|.	0.491;0.337;0.292;0.2;0.292|.	T|T	0.12502|0.12502	-1.0545|-1.0545	10|5	0.72032|.	D|.	0.01|.	-0.2194|-0.2194	8.7481|8.7481	0.34598|0.34598	0.0801:0.0:0.7727:0.1472|0.0801:0.0:0.7727:0.1472	.|.	2005;1999;1999;1286;1999|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	C|M	1999;1982;1286;2005;1999;1999|1489	ENSP00000245441:R1999C;ENSP00000371474:R1286C;ENSP00000371472:R1999C;ENSP00000412391:R1999C|.	ENSP00000245441:R1999C|.	R|T	-|-	1|2	0|0	NIN|NIN	50266074|50266074	0.984000|0.984000	0.35163|0.35163	0.768000|0.768000	0.31515|0.31515	0.984000|0.984000	0.73092|0.73092	3.842000|3.842000	0.55858|0.55858	1.361000|1.361000	0.45981|0.45981	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.567	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51196324	G	A	51196324	3	1	65	1	0	0	0	0	1	0	0	0	10417	1145	40	1	566	1	NIN	14	51196324	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	387390	51196324	56153216	52	4309											
AK7	122481	broad.mit.edu	37	chr14	96949427	96949427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaattatggtttaacagaCgaagaaaaggcagaagagga	19	6	12	4	2	0	4	0	0	0	4	0	7	0	5	0	3	1	2	0	3	7	3	rs199616462		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:96949427C>T	ENST00000267584.4	+	16	1889	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	615					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTTTAACAGACGAAGAAAAGG	0.507																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1843-1845)gaC>gaT		Homo sapiens adenylate kinase 7 (AK7), mRNA.							72	70	71					14																	96949427		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96949427C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1845C>T	14.37:g.96949427C>T							p.D615D	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	15	1889	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	615					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.1845C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	6.779	0.512671	0.12944	.	.	ENSG00000140057	ENST00000554706	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.0074	1.0407	0.01558	0.1703:0.1914:0.2599:0.3785	.	.	.	.	X	37	.	.	R	+	1	2	AK7	96019180	0.000000	0.05858	0.048000	0.18961	0.742000	0.42306	-6.345000	0.00070	-3.047000	0.00261	-1.148000	0.01847	CGA		0.507	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			T	96949427	C	T	96949427	2	4	65	1	0	0	0	0	0	0	0	1	444	535	19	1		1	AK7	14	96949427	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	45753103	96949427	10400113	53	4310											
NIPA1	123606	broad.mit.edu	37	chr15	23048832	23048832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcctattgcaatctaGtctgttttcatattagattt	10	18	5	8	0	3	1	1	0	2	1	4	1	4	1	1	0	2	3	1	0	6	8			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:23048832G>T	ENST00000337435.4	-	5	1011	c.987C>A	c.(985-987)gaC>gaA	p.D329E	NIPA1_ENST00000561183.1_Missense_Mutation_p.D254E|NIPA1_ENST00000538684.1_Missense_Mutation_p.D159E|NIPA1_ENST00000437912.2_Missense_Mutation_p.D254E	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	329					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGCAATCTAGTCTGTTTTCA	0.453																																						uc001yvc.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(985-987)gaC>gaA		Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.							80	76	77					15																	23048832		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23048832G>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.987C>A	15.37:g.23048832G>T	ENSP00000337452:p.Asp329Glu					NIPA1_uc001yvd.3_Missense_Mutation_p.D159E|NIPA1_uc001yve.3_Missense_Mutation_p.D254E	p.D329E	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	4	1012	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	329					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.987C>A	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262905	0.23051	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;T	0.90900	-2.75;-2.51;-1.21	5.74	4.72	0.59763	.	0.286088	0.37955	N	0.001870	T	0.68742	0.3034	N	0.01874	-0.695	0.39673	D	0.970785	B	0.15141	0.012	B	0.12837	0.008	T	0.65907	-0.6054	10	0.07482	T	0.82	.	2.6243	0.04925	0.1804:0.0:0.5195:0.3001	.	329	Q7RTP0	NIPA1_HUMAN	E	329;254;159	ENSP00000337452:D329E;ENSP00000393962:D254E;ENSP00000440957:D159E	ENSP00000337452:D329E	D	-	3	2	NIPA1	20600273	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.976000	0.49289	2.722000	0.93159	0.591000	0.81541	GAC		0.453	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		T	23048832	G	T	23048832	3	4	65	1	0	0	0	0	1	0	0	0	10422	1020	36	5	6	5	NIPA1	15	23048832	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		23048832	79482560	54	4311											
AKAP13	11214	broad.mit.edu	37	chr15	86270682	86270682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttggacaccagagccCgagaattaaaaggtgaggca	16	6	12	7	1	0	3	0	1	0	2	0	5	0	4	2	3	1	2	2	3	4	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:86270682C>G	ENST00000394518.2	+	29	7170	c.7075C>G	c.(7075-7077)Cga>Gga	p.R2359G	RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2363G|AKAP13_ENST00000394510.2_Missense_Mutation_p.R604G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2359	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACCAGAGCCCGAGAATTAAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7075-7077)Cga>Gga		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.							89	88	88					15																	86270682		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86270682C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7075C>G	15.37:g.86270682C>G	ENSP00000378026:p.Arg2359Gly					AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G	p.R2359G	NM_007200	NP_009131	Q12802	AKP13_HUMAN			28	7245	+			2359			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7075C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983997	0.74474	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.12984	2.63;2.65;2.9	5.89	2.69	0.31865	.	.	.	.	.	T	0.38401	0.1039	M	0.83118	2.625	0.48288	D	0.999622	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.78314	0.926;0.98;0.991	T	0.46261	-0.9204	9	0.66056	D	0.02	.	13.369	0.60703	0.4849:0.5151:0.0:0.0	.	2339;2359;2363	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	G	2363;2359;2362;2338;604	ENSP00000354718:R2363G;ENSP00000378026:R2359G;ENSP00000378018:R604G	ENSP00000354718:R2363G	R	+	1	2	AKAP13	84071686	0.998000	0.40836	1.000000	0.80357	0.925000	0.55904	3.461000	0.53035	1.479000	0.48272	0.655000	0.94253	CGA		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		G	86270682	C	G	86270682	3	3	65	1	0	0	0	0	1	0	0	0	449	644	23	5	7255	5	AKAP13	15	86270682	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	63221850	86270682	16260710	55	4312											
ACAN	145864	broad.mit.edu	37	chr15	89417650	89417650	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctagccaccacctacaaaCgcagactacagaagcggagc	14	4	8	15	2	0	2	0	0	0	2	1	3	1	3	4	1	6	1	4	1	5	3	rs571382991		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:89417650C>T	ENST00000359595.3	-	0	1980				ACAN_ENST00000559004.1_Missense_Mutation_p.R2473C|ACAN_ENST00000352105.7_Missense_Mutation_p.R2412C|ACAN_ENST00000561243.1_Missense_Mutation_p.R2511C|ACAN_ENST00000439576.2_Missense_Mutation_p.R2511C	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CACCTACAAACGCAGACTACA	0.612													C|||	1	0.000199681	0	0	5008	,	,		16642	0		0.001	False		,,,				2504	0					uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(7531-7533)Cgc>Tgc		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							32	37	35					15																	89417650		2098	4210	6308	SO:0001628	intergenic_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417650C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680		15.37:g.89417650C>T						ACAN_uc010upp.1_Missense_Mutation_p.R2412C|ACAN_uc002bna.2_Non-coding_Transcript	p.R2511C	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7905	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2511					A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.7531C>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118068	0.56505	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02369	4.51;4.32	4.65	2.61	0.31194	.	0.421932	0.16078	N	0.230643	T	0.11452	0.0279	M	0.71036	2.16	0.27825	N	0.941654	D;D	0.89917	0.997;1.0	P;D	0.69654	0.719;0.965	T	0.01702	-1.1292	10	0.87932	D	0	-5.9129	9.7167	0.40278	0.3718:0.6282:0.0:0.0	.	2412;2511	E7ENV9;E7EX88	.;.	C	2511;2412;2397	ENSP00000387356:R2511C;ENSP00000341615:R2412C	ENSP00000268134:R2397C	R	+	1	0	ACAN	87218654	1.000000	0.71417	0.998000	0.56505	0.750000	0.42670	1.702000	0.37836	1.129000	0.42072	0.655000	0.94253	CGC		0.612	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		T	89417650	C	T	89417650	1	4	65	0	1	0	0	0	0	0	0	0	117	536	19	1		1	ACAN	15	89417650	IGR	SNP	C	TCGA-06-0875-01A-01W-0424-08	3146968	89417650	13113742	56	4313											
CLCN7	1186	broad.mit.edu	37	chr16	1507256	1507256	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaagatttcaactcaccTtgaaatctcgtttcagtgac	13	12	5	11	1	4	3	3	2	1	1	5	3	4	3	1	0	1	1	1	0	3	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:1507256T>C	ENST00000382745.4	-	9	1426	c.821A>G	c.(820-822)aAg>aGg	p.K274R	CLCN7_ENST00000262318.8_Splice_Site_p.K250R|CLCN7_ENST00000448525.1_Splice_Site_p.K250R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	274					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.e9+1		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							111	99	103					16																	1507256		2198	4300	6498	SO:0001630	splice_region_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507256T>C	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.822+1A>G	16.37:g.1507256T>C						CLCN7_uc002clw.2_Splice_Site_p.K250_splice	p.K274_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN			9	932	-		Hepatocellular(780;0.0893)	274					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.822_splice	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	T	7.723	0.697624	0.15106	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93659	-3.26;-3.26	5.39	4.29	0.51040	Chloride channel, core (2);	0.044123	0.85682	D	0.000000	T	0.81527	0.4841	N	0.04508	-0.205	0.80722	D	1	B;B	0.24426	0.005;0.103	B;B	0.25614	0.021;0.062	T	0.73332	-0.4016	10	0.07175	T	0.84	-48.0749	9.9049	0.41370	0.0:0.0814:0.0:0.9186	.	250;274	E9PDB9;P51798	.;CLCN7_HUMAN	R	250;227;274;216	ENSP00000410907:K250R;ENSP00000372193:K274R	ENSP00000262318:K227R	K	-	2	0	CLCN7	1447257	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	4.807000	0.62576	0.886000	0.36113	0.459000	0.35465	AAG		0.592	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	Missense_Mutation	C	1507256	T	C	1507256	5	2	65	1	0	0	0	0	0	0	1	0	3468	1623	56	4	1664	4	CLCN7	16	1507256	Splice_Site	SNP	T	TCGA-06-0875-01A-01W-0424-08		1507256	88847497	57	4314											
COG4	25839	broad.mit.edu	37	chr16	70551628	70551628	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctttgcatctccctcaatCagctgcagattaggactgga	9	12	9	11	0	3	1	2	0	1	1	4	3	3	3	1	2	4	4	1	2	2	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:70551628C>G	ENST00000323786.5	-	3	291	c.270G>C	c.(268-270)ctG>ctC	p.L90L	COG4_ENST00000393612.4_Silent_p.L86L|COG4_ENST00000564653.1_Silent_p.L90L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	86	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453																																						uc002ezc.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(268-270)ctG>ctC		Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.							125	108	114					16																	70551628		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70551628C>G	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.270G>C	16.37:g.70551628C>G						COG4_uc002ezd.3_Silent_p.L90L|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	p.L90L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			2	281	-		Ovarian(137;0.0694)	86			Interacts with STX5.		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.270G>C	CCDS10892.2																																																																																				0.453	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			G	70551628	C	G	70551628	2	3	65	1	0	0	0	0	0	0	0	1	3660	813	29	5		5	COG4	16	70551628	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	69044372	70551628	19803125	58	4315											
TAT	6898	broad.mit.edu	37	chr16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatagccccagaagggCggactggccggagtccaggg	9	4	17	11	2	0	1	0	0	0	1	1	3	1	3	4	6	2	1	4	6	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:71603782C>T	ENST00000355962.4	-	10	1233	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	367					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCAGAAGGGCGGACTGGCCG	0.512																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(1099-1101)cGc>cAc		Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						53	44	47					16																	71603782		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71603782C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1100G>A	16.37:g.71603782C>T	ENSP00000348234:p.Arg367His						p.R367H	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	9	1199	-		Ovarian(137;0.125)	367					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.1100G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584805	0.28268	.	.	ENSG00000198650	ENST00000355962	D	0.90676	-2.71	5.69	3.41	0.39046	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199634	0.51477	N	0.000092	D	0.87657	0.6232	L	0.52905	1.665	0.43569	D	0.995894	B	0.15930	0.015	B	0.08055	0.003	D	0.85736	0.1334	10	0.62326	D	0.03	-8.0025	13.3825	0.60775	0.0:0.851:0.0:0.149	.	367	P17735	ATTY_HUMAN	H	367	ENSP00000348234:R367H	ENSP00000348234:R367H	R	-	2	0	TAT	70161283	0.984000	0.35163	1.000000	0.80357	0.980000	0.70556	1.910000	0.39927	1.410000	0.46936	-0.140000	0.14226	CGC		0.512	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71603782	C	T	71603782	3	4	65	1	0	0	0	0	1	0	0	0	15587	768	27	1	276	1	TAT	16	71603782	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	1052154	71603782	18750971	59	4316											
KARS	3735	broad.mit.edu	37	chr16	75665416	75665416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtggggtgaagtcaacatCgtaggcttggccctctgggc	6	9	17	9	1	2	1	1	1	1	0	3	1	2	1	1	6	1	2	1	6	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:75665416C>T	ENST00000302445.3	-	9	1189	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.D412N	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	384					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AAGTCAACATCGTAGGCTTGG	0.517																																						uc002feq.3																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1150-1152)Gat>Aat		Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	L-Lysine(DB00123)						114	112	112					16																	75665416		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665416C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1150G>A	16.37:g.75665416C>T	ENSP00000303043:p.Asp384Asn					KARS_uc002fer.3_Missense_Mutation_p.D412N	p.D384N	NM_005548	NP_005539	Q15046	SYK_HUMAN			8	1198	-			384					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1150G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070566	0.36566	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.78707	-1.2;-1.2	5.91	4.96	0.65561	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.256151	0.47093	D	0.000258	T	0.71409	0.3336	L	0.43701	1.375	0.80722	D	1	B;B	0.17038	0.0;0.02	B;B	0.10450	0.001;0.005	T	0.68032	-0.5516	10	0.51188	T	0.08	-8.5813	13.9958	0.64397	0.0:0.927:0.0:0.073	.	412;384	Q15046-2;Q15046	.;SYK_HUMAN	N	412;384	ENSP00000325448:D412N;ENSP00000303043:D384N	ENSP00000303043:D384N	D	-	1	0	KARS	74222917	1.000000	0.71417	0.560000	0.28344	0.056000	0.15407	7.818000	0.86416	1.502000	0.48669	-0.150000	0.13652	GAT		0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75665416	C	T	75665416	3	4	65	1	0	0	0	0	1	0	0	0	7980	884	31	2	667	2	KARS	16	75665416	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	4061634	75665416	14689337	60	4317											
USP10	9100	broad.mit.edu	37	chr16	84812553	84812553	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattacactacagacgtCttccagatcggtctgaatgg	10	10	10	11	2	2	3	0	1	2	2	4	3	3	3	2	3	2	0	2	3	3	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:84812553C>A	ENST00000219473.7	+	14	2375	c.2262C>A	c.(2260-2262)gtC>gtA	p.V754V	USP10_ENST00000570191.1_Silent_p.V758V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	754	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTACAGACGTCTTCCAGATCG	0.567																																						uc010voe.2																			0		p.I757N(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2272-2274)gtC>gtA		Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.							46	44	45					16																	84812553		2050	4182	6232	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84812553C>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2262C>A	16.37:g.84812553C>A						USP10_uc002fii.3_Silent_p.V754V|USP10_uc010vof.2_Silent_p.V316V|USP10_uc002fij.3_Silent_p.V280V	p.V758V	NM_005153	NP_005144	Q14694	UBP10_HUMAN			14	2525	+			754					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.2274C>A	CCDS45537.1																																																																																				0.567	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84812553	C	A	84812553	2	1	65	1	0	0	0	0	0	0	0	1	17038	900	32	5		5	USP10	16	84812553	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	9147137	84812553	5542200	61	4318											
WSCD1	23302	broad.mit.edu	37	chr17	5991317	5991317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctttctgcaggcacctaCattggatgcttcagtgacga	8	12	9	12	1	2	1	1	1	1	0	3	3	3	2	2	2	3	3	2	2	1	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:5991317C>T	ENST00000574946.1	+	3	825	c.435C>T	c.(433-435)taC>taT	p.Y145Y	WSCD1_ENST00000573634.1_Silent_p.Y29Y|WSCD1_ENST00000574232.1_Silent_p.Y145Y|WSCD1_ENST00000539421.1_Silent_p.Y145Y|WSCD1_ENST00000317744.5_Silent_p.Y145Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	145	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGCACCTACATTGGATGCT	0.537																																						uc010cli.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(433-435)taC>taT		Homo sapiens WSC domain containing 1 (WSCD1), mRNA.							131	114	120					17																	5991317		2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:5991317C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.435C>T	17.37:g.5991317C>T						WSCD1_uc002gcn.3_Silent_p.Y145Y|WSCD1_uc002gco.3_Silent_p.Y145Y|WSCD1_uc010clj.3_Intron	p.Y145Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			2	814	+			145			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.435C>T	CCDS32538.1																																																																																				0.537	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		T	5991317	C	T	5991317	2	4	65	1	0	0	0	0	0	0	0	1	17403	489	17	3		3	WSCD1	17	5991317	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08		5991317	75203893	62	4319											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	65	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	1585777	7577094	73618116	63	4320											
SLC13A2	9058	broad.mit.edu	37	chr17	26816246	26816246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcctactgcgcGtatgccatcatcctcatggc	7	9	11	14	2	2	0	2	0	0	0	3	1	3	1	3	3	4	2	3	3	2	2	rs181965873		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:26816246G>A	ENST00000314669.5	+	2	537	c.117G>A	c.(115-117)gcG>gcA	p.A39A	SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000444914.3_Silent_p.A39A|SLC13A2_ENST00000545060.1_Intron	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	39					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTACTGCGCGTATGCCATCA	0.612													A|||	1	0.000199681	8e-04	0	5008	,	,		18219	0		0	False		,,,				2504	0					uc010wan.2																			0		p.A39V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(115-117)gcG>gcA		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	Succinic acid(DB00139)						123	92	102					17																	26816246		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26816246G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.117G>A	17.37:g.26816246G>A						SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.A39A|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	p.A39A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	184	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		39					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.117G>A	CCDS11231.1																																																																																				0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		A	26816246	G	A	26816246	2	1	65	1	0	0	0	0	0	0	0	1	14392	1132	40	1		1	SLC13A2	17	26816246	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	19239152	26816246	54378964	64	4321											
SLC16A6	9120	broad.mit.edu	37	chr17	66267054	66267054	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcagaagacatcttcTcaatgcccacgacatcatcc	12	8	6	15	1	3	2	2	0	2	2	5	3	4	2	2	0	3	2	2	0	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:66267054T>G	ENST00000327268.4	-	6	1411	c.1247A>C	c.(1246-1248)gAg>gCg	p.E416A	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.E416A	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	416					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGACATCTTCTCAATGCCCAC	0.458																																						uc002jha.2																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(1246-1248)gAg>gCg		Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	Pyruvic acid(DB00119)						101	88	92					17																	66267054		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267054T>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1247A>C	17.37:g.66267054T>G	ENSP00000319991:p.Glu416Ala					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.E416A	p.E416A	NM_001174166	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1560	-	all_cancers(12;1.24e-09)		416					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1247A>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332013	0.24167	.	.	ENSG00000108932	ENST00000327268	T	0.59906	0.23	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.323813	0.31963	N	0.006784	T	0.51517	0.1679	L	0.42245	1.32	0.32570	N	0.529875	B	0.24675	0.109	B	0.34093	0.175	T	0.61297	-0.7091	10	0.41790	T	0.15	.	10.6625	0.45710	0.0:0.0:0.1598:0.8402	.	416	O15403	MOT7_HUMAN	A	416	ENSP00000319991:E416A	ENSP00000319991:E416A	E	-	2	0	SLC16A6	63778649	1.000000	0.71417	0.949000	0.38748	0.461000	0.32589	3.950000	0.56676	1.896000	0.54893	0.397000	0.26171	GAG		0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		G	66267054	T	G	66267054	3	3	65	1	0	0	0	0	1	0	0	0	14412	1551	54	5	332	5	SLC16A6	17	66267054	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	39450808	66267054	14928156	65	4322											
GPS1	2873	broad.mit.edu	37	chr17	80014960	80014960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggagccagggggagcTgactccagccaacagccagt	12	3	15	11	0	0	2	0	1	0	1	1	4	1	4	4	3	5	1	4	3	2	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:80014960T>C	ENST00000306823.6	+	13	1456	c.1433T>C	c.(1432-1434)cTg>cCg	p.L478P	GPS1_ENST00000320548.4_Missense_Mutation_p.L458P|GPS1_ENST00000355130.2_Missense_Mutation_p.L514P|GPS1_ENST00000392358.2_Missense_Mutation_p.L514P|GPS1_ENST00000578552.1_Missense_Mutation_p.L474P			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	478					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGGGGAGCTGACTCCAGCC	0.677																																						uc002kdk.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(1540-1542)cTg>cCg		Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.							41	43	42					17																	80014960		2203	4299	6502	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80014960T>C		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1433T>C	17.37:g.80014960T>C	ENSP00000302873:p.Leu478Pro					GPS1_uc002kdl.1_Missense_Mutation_p.L478P|GPS1_uc010dij.1_Missense_Mutation_p.L513P|GPS1_uc002kdm.1_Missense_Mutation_p.L458P|GPS1_uc002kdn.1_Missense_Mutation_p.L474P|GPS1_uc010wvh.1_Missense_Mutation_p.L470P	p.L514P	NM_212492	NP_997657	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		12	1961	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		478					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.1541T>C	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.214970	0.79352	.	.	ENSG00000169727	ENST00000392358;ENST00000306823;ENST00000355130	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.47078	0.1426	L	0.34521	1.04	0.80722	D	1	B;P;P;B;P	0.47302	0.162;0.828;0.744;0.162;0.893	B;B;B;B;P	0.45310	0.084;0.284;0.341;0.101;0.476	T	0.45687	-0.9244	8	0.40728	T	0.16	.	14.3228	0.66499	0.0:0.0:0.0:1.0	.	470;513;474;478;514	B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.;.;.;CSN1_HUMAN;.	P	514;478;514	.	ENSP00000302873:L478P	L	+	2	0	GPS1	77608249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.327000	0.79147	1.973000	0.57446	0.375000	0.23000	CTG		0.677	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		C	80014960	T	C	80014960	3	2	65	1	0	0	0	0	1	0	0	0	6732	1580	55	4	1640	4	GPS1	17	80014960	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	13747906	80014960	1180250	66	4323											
CIDEA	1149	broad.mit.edu	37	chr18	12262928	12262928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacaggagcagccggcGtggggtgatggcaagcagcc	9	4	17	11	2	0	2	0	2	0	0	0	3	0	3	3	5	4	3	3	5	1	0	rs149949331	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr18:12262928G>A	ENST00000320477.9	+	2	208	c.143G>A	c.(142-144)cGt>cAt	p.R48H	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	48	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGCAGCCGGCGTGGGGTGATG	0.622																																						uc002kqt.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(142-144)cGt>cAt		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	40	41	41		143	5.3	0.9	18	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CIDEA	NM_001279.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	48/220	12262928	1,13005	2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262928G>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.143G>A	18.37:g.12262928G>A	ENSP00000320209:p.Arg48His					CIDEA_uc002kqu.4_Missense_Mutation_p.R82H|CIDEA_uc010dlc.3_Non-coding_Transcript	p.R48H	NM_001279	NP_001270	O60543	CIDEA_HUMAN			1	208	+			48			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.143G>A	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299910	0.81136	0.0	1.16E-4	ENSG00000176194	ENST00000320477	T	0.41758	0.99	5.31	5.31	0.75309	Caspase-activated nuclease CIDE-N (3);	0.174879	0.37669	N	0.001987	T	0.49898	0.1584	L	0.33792	1.035	0.36222	D	0.852049	D;D	0.89917	0.999;1.0	D;D	0.71414	0.961;0.973	T	0.60156	-0.7318	10	0.87932	D	0	-15.1124	9.713	0.40256	0.1562:0.0:0.8438:0.0	.	82;48	Q8N5P9;O60543	.;CIDEA_HUMAN	H	48	ENSP00000320209:R48H	ENSP00000320209:R48H	R	+	2	0	CIDEA	12252928	0.999000	0.42202	0.948000	0.38648	0.988000	0.76386	3.933000	0.56545	2.467000	0.83353	0.655000	0.94253	CGT		0.622	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		A	12262928	G	A	12262928	3	1	65	1	0	0	0	0	1	0	0	0	3425	1145	40	1	293	1	CIDEA	18	12262928	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		12262928	65814320	67	4324											
MUC16	94025	broad.mit.edu	37	chr19	9046404	9046404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actagtgatctgtgaagtcaCcatctctggtgcaccaggtg	9	11	11	10	0	3	2	1	2	2	0	4	2	3	2	2	2	1	1	2	2	2	1	rs551319234		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:9046404C>T	ENST00000397910.4	-	5	35430	c.35227G>A	c.(35227-35229)Gtg>Atg	p.V11743M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11745	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V7376M(1)|p.V11743M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGAAGTCACCATCTCTGGT	0.502																																						uc002mkp.3																			2	Substitution - Missense(2)	p.V7376M(1)|p.V11743M(1)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35227-35229)Gtg>Atg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							132	125	127					19																	9046404		2000	4179	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046404C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35227G>A	19.37:g.9046404C>T	ENSP00000381008:p.Val11743Met						p.V11743M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	35431	-			11745			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35227G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.233	0.805050	0.16467	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	3.55	-4.06	0.03986	.	.	.	.	.	T	0.02193	0.0068	N	0.17474	0.49	.	.	.	B	0.32245	0.361	B	0.34931	0.192	T	0.43972	-0.9358	8	0.87932	D	0	.	1.396	0.02261	0.14:0.3463:0.2759:0.2377	.	11743	B5ME49	.	M	11743	ENSP00000381008:V11743M	ENSP00000381008:V11743M	V	-	1	0	MUC16	8907404	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.848000	0.04326	-0.658000	0.05366	-0.322000	0.08575	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9046404	C	T	9046404	3	4	65	1	0	0	0	0	1	0	0	0	9973	507	18	3	8616	3	MUC16	19	9046404	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		9046404	50082579	68	4325											
HPN	3249	broad.mit.edu	37	chr19	35556818	35556818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacagcatctctcggaCgccacgttggcggctgtgtg	6	9	15	11	4	1	1	0	1	1	0	3	3	1	3	1	4	1	3	1	4	0	1	rs572113826	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:35556818C>T	ENST00000262626.2	+	12	1922	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	HPN_ENST00000392226.1_Missense_Mutation_p.T366M|HPN_ENST00000597419.1_Missense_Mutation_p.T208M|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	366	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ATCTCTCGGACGCCACGTTGG	0.632													C|||	3	0.000599042	0	0	5008	,	,		17841	0.001		0	False		,,,				2504	0.002					uc002nxq.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1096-1098)aCg>aTg		Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	Coagulation factor VIIa(DB00036)						112	112	112					19																	35556818		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556818C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1097C>T	19.37:g.35556818C>T	ENSP00000262626:p.Thr366Met					HPN_uc002nxr.2_Missense_Mutation_p.T366M|HPN_uc010xsh.1_Missense_Mutation_p.T335M|HPN_uc002nxt.1_Missense_Mutation_p.T250M|LOC100128675_uc010xsi.2_Intron	p.T366M	NM_002151	NP_892028	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	1342	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		366			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1097C>T	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076588	0.76415	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.89415	-2.51;-2.51	5.13	4.09	0.47781	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.054529	0.64402	D	0.000001	D	0.91202	0.7228	L	0.49126	1.545	0.51482	D	0.999927	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.955;0.976;0.935	D	0.90208	0.4262	10	0.46703	T	0.11	.	10.6439	0.45608	0.0:0.9067:0.0:0.0933	.	338;366;366	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	M	366;366;338	ENSP00000262626:T366M;ENSP00000376060:T366M	ENSP00000262626:T366M	T	+	2	0	HPN	40248658	0.292000	0.24362	0.926000	0.36857	0.769000	0.43574	1.497000	0.35649	2.387000	0.81309	0.462000	0.41574	ACG		0.632	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		T	35556818	C	T	35556818	3	4	65	1	0	0	0	0	1	0	0	0	7336	536	19	1	1139	1	HPN	19	35556818	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	26510414	35556818	23572165	69	4326											
NUCB1	4924	broad.mit.edu	37	chr19	49414468	49414468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggaccctcagaaccagCatacattcgaggcccgcgac	11	5	9	16	3	1	1	1	0	0	1	2	4	1	2	4	2	3	1	4	2	2	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:49414468C>G	ENST00000405315.4	+	5	773	c.439C>G	c.(439-441)Cat>Gat	p.H147D	NUCB1_ENST00000263273.5_Missense_Mutation_p.H147D|NUCB1_ENST00000407032.1_Missense_Mutation_p.H147D|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	147						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TCAGAACCAGCATACATTCGA	0.552																																						uc002plb.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(439-441)Cat>Gat		Homo sapiens nucleobindin 1 (NUCB1), mRNA.							75	63	67					19																	49414468		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49414468C>G	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.439C>G	19.37:g.49414468C>G	ENSP00000385923:p.His147Asp					NUCB1_uc002pla.3_Missense_Mutation_p.H147D|Mir_324_uc021uxb.1_5'Flank	p.H147D	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	4	773	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	147					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.439C>G	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.005707|3.005707	0.54254|0.54254	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273|ENST00000424608	T;T;T|.	0.19105|.	2.17;2.17;2.17|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.047792|.	0.85682|.	D|.	0.000000|.	T|T	0.69415|0.69415	0.3108|0.3108	L|L	0.55017|0.55017	1.72|1.72	0.49798|0.49798	D|D	0.999822|0.999822	P;P|.	0.46621|.	0.881;0.881|.	B;B|.	0.37692|.	0.256;0.256|.	T|T	0.67300|0.67300	-0.5705|-0.5705	10|5	0.28530|.	T|.	0.3|.	.|.	16.2298|16.2298	0.82323|0.82323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	147;147|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	D|R	147|116	ENSP00000385923:H147D;ENSP00000385211:H147D;ENSP00000263273:H147D|.	ENSP00000263273:H147D|.	H|S	+|+	1|3	0|2	NUCB1|NUCB1	54106280|54106280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	1.830000|1.830000	0.39131|0.39131	2.519000|2.519000	0.84933|0.84933	0.549000|0.549000	0.68633|0.68633	CAT|AGC		0.552	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		G	49414468	C	G	49414468	3	3	65	1	0	0	0	0	1	0	0	0	10718	710	25	5	453	5	NUCB1	19	49414468	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	13857650	49414468	9714515	70	4327											
ZNF264	9422	broad.mit.edu	37	chr19	57722987	57722987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaaggattggacaggaGcaagtctctccaggagatag	12	9	13	7	0	2	1	1	0	1	1	4	5	3	4	1	4	1	2	1	4	3	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:57722987G>A	ENST00000263095.6	+	4	936	c.522G>A	c.(520-522)gaG>gaA	p.E174E	ZNF264_ENST00000536056.1_Silent_p.E174E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTGGACAGGAGCAAGTCTCTC	0.463																																						uc002qob.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(520-522)gaG>gaA		Homo sapiens zinc finger protein 264 (ZNF264), mRNA.							102	93	96					19																	57722987		2203	4300	6503	SO:0001819	synonymous_variant	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57722987G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.522G>A	19.37:g.57722987G>A							p.E174E	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	936	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	174					A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	c.522G>A	CCDS33127.1																																																																																				0.463	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			A	57722987	G	A	57722987	2	1	65	1	0	0	0	0	0	0	0	1	17801	962	34	3		3	ZNF264	19	57722987	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	8308519	57722987	1405996	71	4328											
CHGB	1114	broad.mit.edu	37	chr20	5904212	5904212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaaattatctcaactaCggtgaggaaggagccccagg	14	6	12	9	1	1	2	1	1	1	1	2	5	1	4	2	4	3	0	2	4	5	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr20:5904212C>T	ENST00000378961.4	+	4	1626	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	474						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATCTCAACTACGGTGAGGAAG	0.507																																						uc002wmg.3																			0		p.N473Y(1)|p.N473S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1420-1422)taC>taT		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							81	84	83					20																	5904212		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904212C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1422C>T	20.37:g.5904212C>T						CHGB_uc010zqz.2_Silent_p.Y157Y	p.Y474Y	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	1728	+			474					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1422C>T	CCDS13092.1																																																																																				0.507	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5904212	C	T	5904212	2	4	65	1	0	0	0	0	0	0	0	1	3339	547	19	1		1	CHGB	20	5904212	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08		5904212	57121308	72	4329											
TRPM2	7226	broad.mit.edu	37	chr21	45825917	45825917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagatcatcattgtgaagcgGatggtaagggggcgggggca	11	7	18	5	2	2	2	2	1	0	1	2	3	2	3	0	6	1	2	0	6	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr21:45825917G>A	ENST00000397928.1	+	18	3232	c.2787G>A	c.(2785-2787)cgG>cgA	p.R929R	TRPM2_ENST00000300482.5_Silent_p.R929R|TRPM2_ENST00000300481.9_Silent_p.R909R|TRPM2_ENST00000397932.2_Silent_p.R929R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	929					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTGAAGCGGATGGTAAGGG	0.627																																						uc010gpt.1																			0		p.R929W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2785-2787)cgG>cgA		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							96	108	104					21																	45825917		2203	4297	6500	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45825917G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2787G>A	21.37:g.45825917G>A						TRPM2_uc002zet.1_Silent_p.R929R|TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R	p.R929R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2887	+			929					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2787G>A	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45825917	G	A	45825917	2	1	65	1	0	0	0	0	0	0	0	1	16583	1161	41	3		3	TRPM2	21	45825917	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08		45825917	2303978	73	4330											
ASB11	140456	broad.mit.edu	37	chrX	15307657	15307657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttcttcacacagtctacCctctggtaggtgcaggccac	8	11	9	13	0	4	0	1	0	3	0	4	0	4	0	2	3	2	3	2	3	2	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:15307657C>A	ENST00000480796.1	-	5	674	c.624G>T	c.(622-624)agG>agT	p.R208S	ASB11_ENST00000344384.4_Missense_Mutation_p.R187S|ASB11_ENST00000380470.3_Missense_Mutation_p.R191S|ASB11_ENST00000537676.1_Missense_Mutation_p.R187S			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	208					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CACAGTCTACCCTCTGGTAGG	0.408																																						uc004cwp.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(622-624)agG>agT		Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.							161	160	161					X																	15307657		2203	4300	6503	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15307657C>A	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.624G>T	X.37:g.15307657C>A	ENSP00000417914:p.Arg208Ser					ASB11_uc004cwo.2_Missense_Mutation_p.R187S|ASB11_uc010net.2_Missense_Mutation_p.R191S|ASB11_uc010nes.2_Non-coding_Transcript	p.R208S	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			4	643	-	Hepatocellular(33;0.183)		208					E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.624G>T	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661466	0.29515	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.58	1.8	0.24995	Ankyrin repeat-containing domain (4);	0.148757	0.48767	D	0.000174	T	0.54631	0.1870	N	0.04162	-0.26	0.30881	N	0.731381	D;D;D	0.89917	0.976;1.0;1.0	P;D;D	0.87578	0.908;0.998;0.998	T	0.58381	-0.7646	10	0.41790	T	0.15	-4.1399	9.2461	0.37527	0.0:0.5174:0.0:0.4826	.	191;208;187	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	S	187;191;187;208	ENSP00000445465:R187S;ENSP00000369837:R191S;ENSP00000343408:R187S;ENSP00000417914:R208S	ENSP00000343408:R187S	R	-	3	2	ASB11	15217578	0.074000	0.21230	0.990000	0.47175	0.985000	0.73830	-0.414000	0.07114	-0.003000	0.14444	0.506000	0.49869	AGG		0.408	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			A	15307657	C	A	15307657	3	1	65	1	0	0	0	0	1	0	0	0	1015	622	22	5	359	5	ASB11	23	15307657	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		15307657	139962903	74	4331											
GRPR	2925	broad.mit.edu	37	chrX	16170433	16170433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtttgtgggcctgttcGccttctgctggctccccaat	2	15	12	12	1	1	0	0	0	1	0	3	0	2	0	4	3	1	4	4	3	1	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:16170433G>A	ENST00000380289.2	+	3	1218	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	274					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGGCCTGTTCGCCTTCTGCTG	0.537																																						uc004cxj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(820-822)Gcc>Acc		Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.							145	122	130					X																	16170433		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170433G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.820G>A	X.37:g.16170433G>A	ENSP00000369643:p.Ala274Thr						p.A274T	NM_005314	NP_005305	P30550	GRPR_HUMAN			2	1473	+	Hepatocellular(33;0.183)		274					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.820G>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991674	0.93106	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.72394	-0.65	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84540	0.0638	10	0.49607	T	0.09	-24.1622	17.2579	0.87062	0.0:0.0:1.0:0.0	.	274	P30550	GRPR_HUMAN	T	274;63	ENSP00000369643:A274T	ENSP00000369643:A274T	A	+	1	0	GRPR	16080354	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	9.476000	0.97823	2.287000	0.76781	0.600000	0.82982	GCC		0.537	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		A	16170433	G	A	16170433	3	1	65	1	0	0	0	0	1	0	0	0	6808	1087	38	1	830	1	GRPR	23	16170433	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	862776	16170433	139100127	75	4332											
FTHL17	53940	broad.mit.edu	37	chrX	31089888	31089888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatgctccattttgtcGtccgacaggcgcaggaagta	8	10	13	10	3	0	0	0	0	0	0	3	2	2	1	2	3	1	4	2	3	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:31089888G>A	ENST00000359202.3	-	1	282	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	61	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.D61E(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCATTTTGTCGTCCGACAGGC	0.577																																						uc004dcl.1																			2	Substitution - Missense(2)	p.D61E(3)|p.S60S(1)|p.S60L(1)	lung(2)	endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(181-183)gaC>gaT		Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.							81	72	75					X																	31089888		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089888G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.183C>T	X.37:g.31089888G>A							p.D61D	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			0	283	-			61			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.183C>T	CCDS14227.1																																																																																				0.577	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		A	31089888	G	A	31089888	2	1	65	1	0	0	0	0	0	0	0	1	6083	1136	40	1		1	FTHL17	23	31089888	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	14919455	31089888	124180672	76	4333											
PAGE2B	389860	broad.mit.edu	37	chrX	55103027	55103027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccactgaggaaaaacGtcaagaagaggaaccaccaa	18	2	11	10	1	1	3	1	1	0	2	1	6	1	6	3	3	3	0	3	3	6	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:55103027G>A	ENST00000374971.1	+	3	162	c.110G>A	c.(109-111)cGt>cAt	p.R37H	PAGE2B_ENST00000374974.3_Missense_Mutation_p.R37H	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	37										lung(3)	3						GAGGAAAAACGTCAAGAAGAG	0.443																																						uc004due.3																			0				lung(3)	3						c.(109-111)cGt>cAt		Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.							51	39	43					X																	55103027		2201	4296	6497	SO:0001583	missense	389860							g.chrX:55103027G>A		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.110G>A	X.37:g.55103027G>A	ENSP00000364110:p.Arg37His					PAGE2B_uc022bxk.1_Missense_Mutation_p.R37H	p.R37H	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN			2	162	+			37					A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	c.110G>A	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	-	6.948	0.544668	0.13312	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.10477	2.87;2.87	1.08	0.0902	0.14462	.	.	.	.	.	T	0.11239	0.0274	M	0.63428	1.95	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.30679	-0.9970	9	0.59425	D	0.04	.	4.7178	0.12903	0.0:0.5648:0.4352:0.0	.	37	Q5JRK9	GGEE3_HUMAN	H	37	ENSP00000364113:R37H;ENSP00000364110:R37H	ENSP00000364110:R37H	R	+	2	0	PAGE2B	55119752	0.009000	0.17119	0.003000	0.11579	0.130000	0.20726	-0.174000	0.09839	-0.024000	0.13941	0.279000	0.19357	CGT		0.443	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		A	55103027	G	A	55103027	3	1	65	1	0	0	0	0	1	0	0	0	11391	1145	40	1	116	1	PAGE2B	23	55103027	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	24013139	55103027	100167533	77	4334											
RPS6KA6	27330	broad.mit.edu	37	chrX	83320106	83320106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtccatatgaagcataTgggaaagcaaatcctaaatt	15	10	10	6	0	0	1	0	1	0	0	2	2	2	2	2	2	2	2	2	2	7	4	rs149201069	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:83320106T>C	ENST00000262752.2	-	21	1992	c.1985A>G	c.(1984-1986)cAt>cGt	p.H662R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.H662R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	662	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGAAGCATATGGGAAAGCAA	0.338																																						uc004eej.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1984-1986)cAt>cGt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.		T	ARG/HIS	0,3835		0,0,0,1632,571	108	92	97		1985	3.6	1	X	dbSNP_134	97	8,6720		0,5,3,2423,1869	yes	missense	RPS6KA6	NM_014496.4	29	0,5,3,4055,2440	CC,CT,C,TT,T		0.1189,0.0,0.0757	benign	662/746	83320106	8,10555	2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83320106T>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1985A>G	X.37:g.83320106T>C	ENSP00000262752:p.His662Arg					RPS6KA6_uc011mqt.2_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.2_Missense_Mutation_p.H559R	p.H662R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			20	2021	-			662			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1985A>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297166	0.23650	0.0	0.001189	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.62788	-0.0;-0.0	4.77	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098040	0.64402	D	0.000001	T	0.28267	0.0698	N	0.00811	-1.165	0.58432	D	0.999995	B;B	0.06786	0.0;0.001	B;B	0.11329	0.006;0.006	T	0.03706	-1.1011	10	0.21540	T	0.41	.	9.6627	0.39965	0.0:0.0843:0.0:0.9157	.	662;662	B7ZL90;Q9UK32	.;KS6A6_HUMAN	R	662	ENSP00000262752:H662R;ENSP00000440830:H662R	ENSP00000262752:H662R	H	-	2	0	RPS6KA6	83206762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.538000	0.67193	0.599000	0.29845	0.486000	0.48141	CAT		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		C	83320106	T	C	83320106	3	2	65	1	0	0	0	0	1	0	0	0	13655	1464	51	4	260	4	RPS6KA6	23	83320106	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	28217079	83320106	71950454	78	4335											
CSMD2	114784	broad.mit.edu	37	chr1	34070881	34070881	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggatgagggagcgacataCcttcacacttgggcaggggg	9	6	18	8	1	1	1	1	1	0	0	1	4	1	3	1	6	2	1	1	6	1	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:34070881C>T	ENST00000373380.1	-	21	3372		c.e21+1		CSMD2_ENST00000373381.4_Splice_Site|CSMD2_ENST00000373377.1_Splice_Site|CSMD2_ENST00000489419.1_5'Flank|CSMD2_ENST00000373388.2_Splice_Site			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCGACATACCTTCACACTT	0.587																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.e42+1		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							78	70	73					1																	34070881		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34070881C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3151+1G>A	1.37:g.34070881C>T						CSMD2_uc001bxn.1_Splice_Site_p.V2180_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	p.V2178_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			42	6709	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2180			Sushi 12.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000373380.1	37	c.6532_splice		.	.	.	.	.	.	.	.	.	.	C	27.9	4.872986	0.91664	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8088	0.92050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD2	33843468	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.818000	0.86416	2.689000	0.91719	0.561000	0.74099	.		0.587	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	Intron	T	34070881	C	T	34070881	5	4	66	1	0	0	0	0	0	0	1	0	3945	521	18	3	4032	3	CSMD2	1	34070881	Splice_Site	SNP	C	TCGA-06-0876-01A-01W-0424-08		34070881	215179740	1	4336											
CLSPN	63967	broad.mit.edu	37	chr1	36228771	36228775	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-																															ctttacttgccttgtgctttTttactttgttttttacagct																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:36228771_36228775delTTTAC	ENST00000318121.3	-	4	787_791	c.730_734delGTAAA	c.(730-735)gtaaaafs	p.VK244fs	CLSPN_ENST00000251195.5_Frame_Shift_Del_p.VK244fs|CLSPN_ENST00000520551.1_Frame_Shift_Del_p.VK244fs|CLSPN_ENST00000373220.3_Frame_Shift_Del_p.VK244fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	244					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGTGCTTTTTTACTTTGTTTTTT	0.322																																						uc001bzi.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(730-735)gtaaaafs		Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36228771_36228775delTTTAC	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.730_734delGTAAA	1.37:g.36228771_36228775delTTTAC	ENSP00000312995:p.Val244fs					CLSPN_uc009vux.3_Frame_Shift_Del_p.V244fs	p.V244fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			3	810_814	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	244					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Del	DEL	ENST00000318121.3	37	c.730_734delGTAAA	CCDS396.1																																																																																				0.322	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		-	36228775	TTTAC	-	36228771	7	5	66	1	0	1	0	1	0	0	0	0	3560	1841	64	0	3373	0	CLSPN	1	36228771	Frame_Shift_Del	DEL	TTTAC	TCGA-06-0876-01A-01W-0424-08	2157890	36228771	213021850	2	4337											
LRRC8B	23507	broad.mit.edu	37	chr1	90050043	90050043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcctgaataatttgcatGagttagacctaagggaaaat	15	11	9	6	0	1	3	1	2	0	1	1	4	1	4	2	1	2	2	2	1	6	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:90050043G>A	ENST00000330947.2	+	5	2194	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	LRRC8B_ENST00000358200.4_Missense_Mutation_p.E612K|LRRC8B_ENST00000439853.1_Missense_Mutation_p.E612K|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	612					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTTGCATGAGTTAGACCT	0.388																																						uc001dni.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(1834-1836)Gag>Aag		Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.							76	78	77					1																	90050043		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90050043G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1834G>A	1.37:g.90050043G>A	ENSP00000332674:p.Glu612Lys					LRRC8B_uc001dnh.3_Missense_Mutation_p.E612K|LRRC8B_uc001dnj.3_Missense_Mutation_p.E612K	p.E612K	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2341	+		all_lung(203;0.17)	612					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1834G>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370745	0.82573	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.56941	0.43;0.43;0.43	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.56949	0.2020	L	0.37561	1.115	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.51647	-0.8679	9	.	.	.	.	19.3323	0.94295	0.0:0.0:1.0:0.0	.	612	Q6P9F7	LRC8B_HUMAN	K	612	ENSP00000332674:E612K;ENSP00000350933:E612K;ENSP00000400704:E612K	.	E	+	1	0	LRRC8B	89822631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.945000	0.87732	2.633000	0.89246	0.655000	0.94253	GAG		0.388	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		A	90050043	G	A	90050043	3	1	66	1	0	0	0	0	1	0	0	0	9022	1291	45	3	1836	3	LRRC8B	1	90050043	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	53821272	90050043	159200578	3	4338											
EPS8L3	79574	broad.mit.edu	37	chr1	110304367	110304367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctctgctgctgggccttGacatgttgacgctgctgagg	4	12	15	10	1	1	3	0	3	1	0	1	3	1	3	1	3	3	6	1	3	0	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:110304367G>A	ENST00000361965.4	-	2	111	c.5C>T	c.(4-6)tCa>tTa	p.S2L	EPS8L3_ENST00000361852.4_Missense_Mutation_p.S2L|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S2L|EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	2						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCTTGACATGTTGAC	0.612																																						uc001dyr.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(4-6)tCa>tTa		Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.							67	60	62					1																	110304367		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110304367G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.5C>T	1.37:g.110304367G>A	ENSP00000355255:p.Ser2Leu					EPS8L3_uc001dys.2_Missense_Mutation_p.S2L|EPS8L3_uc001dyq.2_Missense_Mutation_p.S2L|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_5'UTR|EPS8L3_uc009wfo.2_Missense_Mutation_p.S2L	p.S2L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	1	230	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	2					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.5C>T	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129655	0.77549	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.63580	2.29;0.01;-0.05	4.88	4.88	0.63580	.	0.198985	0.44097	D	0.000488	T	0.69351	0.3101	L	0.60455	1.87	0.42167	D	0.99162	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72338	0.93;0.977;0.948;0.951	T	0.73433	-0.3984	10	0.87932	D	0	-22.0636	13.9193	0.63921	0.0:0.0:1.0:0.0	.	2;2;2;2	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	L	2	ENSP00000354551:S2L;ENSP00000358820:S2L;ENSP00000355255:S2L	ENSP00000354551:S2L	S	-	2	0	EPS8L3	110105890	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	5.275000	0.65575	2.403000	0.81681	0.655000	0.94253	TCA		0.612	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		A	110304367	G	A	110304367	3	1	66	1	0	0	0	0	1	0	0	0	5197	1294	45	3	1851	3	EPS8L3	1	110304367	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	20254324	110304367	138946254	4	4339											
VTCN1	79679	broad.mit.edu	37	chr1	117699295	117699295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgcacgtttttcagccGcaaagaggcattgccaacta	11	10	10	10	2	1	1	1	0	0	1	1	2	1	1	2	1	4	5	2	1	3	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:117699295G>A	ENST00000369458.3	-	3	424	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.R119W|VTCN1_ENST00000539893.1_Missense_Mutation_p.R21W	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.R116W(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTTTCAGCCGCAAAGAGGCA	0.458																																						uc001ehb.3																			1	Substitution - Missense(1)	p.R116W(2)	large_intestine(1)	large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(346-348)Cgg>Tgg		Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.							98	94	95					1																	117699295		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117699295G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.346C>T	1.37:g.117699295G>A	ENSP00000358470:p.Arg116Trp					VTCN1_uc021osn.1_Missense_Mutation_p.R21W|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.R21W|VTCN1_uc009whf.2_Intron	p.R116W	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	2	451	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	116			Ig-like V-type 1.			Missense_Mutation	SNP	ENST00000369458.3	37	c.346C>T	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218462	0.39201	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.67345	-0.26;-0.26;-0.26	6.08	4.96	0.65561	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172268	0.42053	D	0.000775	T	0.42200	0.1192	L	0.59436	1.845	0.27487	N	0.952408	B	0.22909	0.077	B	0.24269	0.052	T	0.47446	-0.9117	10	0.87932	D	0	-21.3003	6.0364	0.19710	0.0:0.0863:0.1754:0.7383	.	116	Q7Z7D3	VTCN1_HUMAN	W	116;119;21	ENSP00000358470:R116W;ENSP00000351899:R119W;ENSP00000444724:R21W	ENSP00000351899:R119W	R	-	1	2	VTCN1	117500818	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.359000	0.44142	1.128000	0.42052	-0.291000	0.09656	CGG		0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		A	117699295	G	A	117699295	3	1	66	1	0	0	0	0	1	0	0	0	17231	1086	38	1	514	1	VTCN1	1	117699295	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	7394928	117699295	131551326	5	4340											
DPT	1805	broad.mit.edu	37	chr1	168670256	168670256	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggggctgtctttctcaccTttccactgcagagaaagtgg	9	11	11	10	0	2	1	1	0	2	1	4	2	3	1	2	3	1	2	2	3	2	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:168670256T>A	ENST00000367817.3	-	3	627	c.538A>T	c.(538-540)Agg>Tgg	p.R180W		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	180	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTTTCTCACCTTTCCACTGCA	0.433																																						uc001gfp.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.e3+1		Homo sapiens dermatopontin (DPT), mRNA.							147	139	141					1																	168670256		2203	4300	6503	SO:0001630	splice_region_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168670256T>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.539+1A>T	1.37:g.168670256T>A							p.R180_splice	NM_001937	NP_001928	Q07507	DERM_HUMAN			3	569	-	all_hematologic(923;0.208)		180			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.539_splice	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194985	0.78902	.	.	ENSG00000143196	ENST00000367817	T	0.48836	0.8	5.46	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.61703	1.905	0.54753	D	0.999986	D	0.76494	0.999	D	0.79784	0.993	T	0.61695	-0.7010	9	0.72032	D	0.01	-11.0998	11.4757	0.50297	0.0:0.0:0.151:0.849	.	180	Q07507	DERM_HUMAN	W	180	ENSP00000356791:R180W	ENSP00000356791:R180W	R	-	1	2	DPT	166936880	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.230000	0.51286	0.856000	0.35383	0.528000	0.53228	AGG		0.433	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937	Missense_Mutation	A	168670256	T	A	168670256	5	1	66	1	0	0	0	0	0	0	1	0	4739	1623	56	5	75	5	DPT	1	168670256	Splice_Site	SNP	T	TCGA-06-0876-01A-01W-0424-08	50970961	168670256	80580365	6	4341											
HHAT	55733	broad.mit.edu	37	chr1	210637955	210637955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggactcactccacccgccctCccccgctgcgtgagcaccat	6	6	8	21	3	1	1	1	1	0	0	3	2	3	2	6	1	2	2	6	1	0	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:210637955C>T	ENST00000367010.1	+	8	1190	c.963C>T	c.(961-963)ctC>ctT	p.L321L	HHAT_ENST00000541565.1_Silent_p.L184L|HHAT_ENST00000545154.1_Silent_p.L322L|HHAT_ENST00000308852.6_Silent_p.L276L|HHAT_ENST00000537898.1_Silent_p.L256L|HHAT_ENST00000261458.3_Silent_p.L321L|HHAT_ENST00000367009.1_Silent_p.L11L|HHAT_ENST00000391905.3_Silent_p.L321L|HHAT_ENST00000545781.1_Silent_p.L258L|HHAT_ENST00000413764.2_Silent_p.L321L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	321					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACCCGCCCTCCCCCGCTGCG	0.592																																						uc010psr.2																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(964-966)ctC>ctT		Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.							115	105	109					1																	210637955		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637955C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.963C>T	1.37:g.210637955C>T						HHAT_uc009xcx.3_Silent_p.L321L|HHAT_uc010psq.2_Silent_p.L184L|HHAT_uc009xcy.3_Silent_p.L256L|HHAT_uc010pss.2_Silent_p.L276L|HHAT_uc010pst.2_Silent_p.L258L|HHAT_uc001hhz.4_Silent_p.L321L|HHAT_uc021pip.1_Silent_p.L321L|HHAT_uc010psu.2_Silent_p.L256L|HHAT_uc001hia.4_Silent_p.L11L	p.L322L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	1071	+			321					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.966C>T	CCDS1495.1																																																																																				0.592	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		T	210637955	C	T	210637955	2	4	66	1	0	0	0	0	0	0	0	1	7089	842	30	3		3	HHAT	1	210637955	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	41967699	210637955	38612666	7	4342											
CENPF	1063	broad.mit.edu	37	chr1	214819979	214819979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaaccaagagcatgcaGctcttgaggcagagaattcc	14	6	11	10	0	1	3	0	1	1	2	2	5	2	4	2	2	4	4	2	2	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:214819979G>A	ENST00000366955.3	+	13	7234	c.7066G>A	c.(7066-7068)Gct>Act	p.A2356T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2452	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGCATGCAGCTCTTGAGGC	0.438																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(7066-7068)Gct>Act		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							43	45	45					1																	214819979		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819979G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7066G>A	1.37:g.214819979G>A	ENSP00000355922:p.Ala2356Thr						p.A2356T	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	7240	+			2452			2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.7066G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202638	0.22121	.	.	ENSG00000117724	ENST00000366955	T	0.42131	0.98	5.03	-8.37	0.00976	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	2.488010	0.01841	N	0.035318	T	0.21718	0.0523	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.18461	-1.0336	10	0.13853	T	0.58	.	14.3001	0.66341	0.0989:0.298:0.6031:0.0	.	2452	P49454	CENPF_HUMAN	T	2356	ENSP00000355922:A2356T	ENSP00000355922:A2356T	A	+	1	0	CENPF	212886602	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.402000	0.02499	-1.699000	0.01416	-0.320000	0.08662	GCT		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214819979	G	A	214819979	3	1	66	1	0	0	0	0	1	0	0	0	3231	971	34	3	7112	3	CENPF	1	214819979	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	4182024	214819979	34430642	8	4343											
TTC13	79573	broad.mit.edu	37	chr1	231059600	231059600	+	Frame_Shift_Del	DEL	T	T	-																															ttcgtacctgattaaattaaTgtggttgttaaaacctctgc																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:231059600delT	ENST00000366661.4	-	15	1808	c.1801delA	c.(1801-1803)attfs	p.I601fs	TTC13_ENST00000414259.1_Frame_Shift_Del_p.I548fs|TTC13_ENST00000366662.4_Frame_Shift_Del_p.I548fs	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	601										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAATTAATGTGGTTGTTA	0.438																																						uc001huf.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1801-1803)attfs		Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.							124	122	123					1																	231059600		2203	4300	6503	SO:0001589	frameshift_variant	79573						binding	g.chr1:231059600delT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1801delA	1.37:g.231059600delT	ENSP00000355621:p.Ile601fs					TTC13_uc001hug.4_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Frame_Shift_Del_p.I491fs	p.I601fs	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	14	1843	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	601					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Frame_Shift_Del	DEL	ENST00000366661.4	37	c.1801delA	CCDS1588.1																																																																																				0.438	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		-	231059600	T	-	231059600	7	5	66	1	0	1	0	1	0	0	0	0	16677	1464	51	0	817	0	TTC13	1	231059600	Frame_Shift_Del	DEL	T	TCGA-06-0876-01A-01W-0424-08	16239621	231059600	18191021	9	4344											
C2orf65	130951	broad.mit.edu	37	chr2	74787316	74787316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtgtgggtggagccGcccctgaggcttggcataga	6	8	15	12	1	0	2	0	1	0	1	1	3	1	3	4	4	1	2	4	4	1	2	rs540346738		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:74787316G>A	ENST00000290536.5	-	9	1500	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	M1AP_ENST00000536235.1_Missense_Mutation_p.R462W|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.R462W|M1AP_ENST00000358434.2_Missense_Mutation_p.R111W	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	462					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGGTGGAGCCGCCCCTGAGGC	0.607													g|||	1	0.000199681	8e-04	0	5008	,	,		17515	0		0	False		,,,				2504	0					uc002smy.3																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						c.(1384-1386)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.							72	67	69					2																	74787316		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74787316G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1384C>T	2.37:g.74787316G>A	ENSP00000290536:p.Arg462Trp					C2orf65_uc010ysa.2_Missense_Mutation_p.R462W|C2orf65_uc010ffp.3_Missense_Mutation_p.R111W	p.R462W	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			8	1501	-			462					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1384C>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764991	0.69878	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.34859	1.35;1.34;1.34	5.41	3.53	0.40419	.	0.147478	0.44097	D	0.000498	T	0.49270	0.1547	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.999	P;D;P;P	0.68765	0.809;0.96;0.809;0.809	T	0.30416	-0.9979	10	0.72032	D	0.01	-17.9805	6.8663	0.24094	0.0897:0.0:0.7369:0.1733	.	462;111;462;218	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	W	462;462;462;111	ENSP00000290536:R462W;ENSP00000386793:R462W;ENSP00000445662:R462W	ENSP00000290536:R462W	R	-	1	2	C2orf65	74640824	0.037000	0.19845	0.836000	0.33094	0.944000	0.59088	1.869000	0.39519	1.462000	0.47948	0.561000	0.74099	CGG		0.607	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		A	74787316	G	A	74787316	3	1	66	1	0	0	0	0	1	0	0	0	2184	1086	38	1	220	1	C2orf65	2	74787316	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		74787316	168412057	10	4345											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631554	128631554	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccggggaagagggctcagCgctcccgatgcgggattcat	7	6	17	11	4	2	1	2	0	0	1	3	4	3	3	2	5	2	2	2	5	1	1	rs563618984	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:128631554C>A	ENST00000272647.5	-	3	515	c.255G>T	c.(253-255)gcG>gcT	p.A85A	AMMECR1L_ENST00000393001.1_Silent_p.A85A	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	85										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GAGGGCTCAGCGCTCCCGATG	0.547																																						uc002tpl.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(253-255)gcG>gcT		Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.							162	153	156					2																	128631554		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128631554C>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.255G>T	2.37:g.128631554C>A						AMMECR1L_uc002tpm.3_Silent_p.A85A	p.A85A	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	2	506	-	Colorectal(110;0.1)		85					B4E276	Silent	SNP	ENST00000272647.5	37	c.255G>T	CCDS2152.1																																																																																				0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		A	128631554	C	A	128631554	2	1	66	1	0	0	0	0	0	0	0	1	579	755	27	5		5	AMMECR1L	2	128631554	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	53844238	128631554	114567819	11	4346											
FRAS1	80144	broad.mit.edu	37	chr4	79385647	79385647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgatgattcgctgccCgtcgtacagaacttaggaat	9	11	10	11	4	0	2	0	1	0	1	3	4	0	3	2	1	3	2	2	1	4	3	rs150936204	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:79385647C>T	ENST00000264895.6	+	49	7379	c.6939C>T	c.(6937-6939)ccC>ccT	p.P2313P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2313					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTCGCTGCCCGTCGTACAGA	0.537													C|||	5	0.000998403	0	0	5008	,	,		22120	0		0.001	False		,,,				2504	0.0041					uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(6937-6939)ccC>ccT		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		C		0,4154		0,0,2077	133	127	129		6939	-1.9	0	4	dbSNP_134	129	5,8441		0,5,4218	no	coding-synonymous	FRAS1	NM_025074.6		0,5,6295	TT,TC,CC		0.0592,0.0,0.0397		2313/4013	79385647	5,12595	2077	4223	6300	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79385647C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6939C>T	4.37:g.79385647C>T							p.P2313P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			48	7379	+			2312					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.6939C>T	CCDS54771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.608	0.112930	0.08831	0.0	5.92E-4	ENSG00000138759	ENST00000512123	.	.	.	5.48	-1.89	0.07689	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	0.7318	0.00958	0.1914:0.2563:0.1881:0.3642	.	.	.	.	C	542	.	.	R	+	1	0	FRAS1	79604671	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.720000	0.01871	-0.869000	0.04052	-0.133000	0.14855	CGT		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79385647	C	T	79385647	2	4	66	1	0	0	0	0	0	0	0	1	6042	639	23	2		2	FRAS1	4	79385647	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		79385647	111768629	12	4347											
POU4F2	5458	broad.mit.edu	37	chr4	147561389	147561389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgccggctcacgcgcCgcacatggccaccatgaacc	8	4	10	19	5	1	1	1	1	0	0	2	1	2	1	6	2	1	2	6	2	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:147561389C>T	ENST00000281321.3	+	2	907	c.659C>T	c.(658-660)cCg>cTg	p.P220L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	220					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTCACGCGCCGCACATGGCC	0.726																																						uc003ikv.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(658-660)cCg>cTg		Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.							11	12	12					4																	147561389		2192	4274	6466	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561389C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.659C>T	4.37:g.147561389C>T	ENSP00000281321:p.Pro220Leu						p.P220L	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	907	+	all_hematologic(180;0.151)		220					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.659C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331037	0.41297	.	.	ENSG00000151615	ENST00000281321	D	0.83335	-1.71	5.52	5.52	0.82312	.	0.292594	0.37955	N	0.001878	T	0.68723	0.3032	N	0.08118	0	0.80722	D	1	B	0.27351	0.176	B	0.12837	0.008	T	0.65088	-0.6253	10	0.25751	T	0.34	.	19.057	0.93069	0.0:1.0:0.0:0.0	.	220	Q12837	PO4F2_HUMAN	L	220	ENSP00000281321:P220L	ENSP00000281321:P220L	P	+	2	0	POU4F2	147780839	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	7.739000	0.84976	2.609000	0.88269	0.462000	0.41574	CCG		0.726	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		T	147561389	C	T	147561389	3	4	66	1	0	0	0	0	1	0	0	0	12279	652	23	2	665	2	POU4F2	4	147561389	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	68175742	147561389	43592887	13	4348											
NR3C2	4306	broad.mit.edu	37	chr4	149357273	149357273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcagggctgtgcgacCtggagcctcgattttcaaca	8	10	12	11	2	1	0	1	0	0	0	2	3	1	1	2	2	4	2	2	2	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:149357273C>T	ENST00000358102.3	-	2	1102	c.740G>A	c.(739-741)aGg>aAg	p.R247K	NR3C2_ENST00000344721.4_Missense_Mutation_p.R247K|NR3C2_ENST00000512865.1_Missense_Mutation_p.R247K|NR3C2_ENST00000511528.1_Missense_Mutation_p.R247K|NR3C2_ENST00000355292.3_Missense_Mutation_p.R247K	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	247	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCTGTGCGACCTGGAGCCTCG	0.532																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0		p.S246C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(739-741)aGg>aAg		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						82	84	83					4																	149357273		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357273C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.740G>A	4.37:g.149357273C>T	ENSP00000350815:p.Arg247Lys					NR3C2_uc003ilk.4_Missense_Mutation_p.R247K|NR3C2_uc010iph.3_Non-coding_Transcript	p.R247K	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	1	1103	-	all_hematologic(180;0.151)		247			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.740G>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674940	0.29783	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.07;-2.08;-2.49	4.86	3.87	0.44632	.	0.486354	0.24568	N	0.037402	T	0.77691	0.4168	N	0.14661	0.345	0.24700	N	0.993268	B;B	0.16166	0.009;0.016	B;B	0.21151	0.013;0.033	T	0.62011	-0.6944	9	.	.	.	.	10.3924	0.44181	0.4363:0.5637:0.0:0.0	.	247;247	B0ZBF5;B0ZBF6	.;.	K	247	ENSP00000341390:R247K;ENSP00000347441:R247K;ENSP00000350815:R247K;ENSP00000423510:R247K;ENSP00000343907:R247K;ENSP00000421481:R247K	.	R	-	2	0	NR3C2	149576723	0.998000	0.40836	0.965000	0.40720	0.987000	0.75469	1.695000	0.37763	2.392000	0.81423	0.591000	0.81541	AGG		0.532	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			T	149357273	C	T	149357273	3	4	66	1	0	0	0	0	1	0	0	0	10631	681	24	3	2246	3	NR3C2	4	149357273	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	1795884	149357273	41797003	14	4349											
FHDC1	85462	broad.mit.edu	37	chr4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtaaagaagttaaaagCgtttagtggcgacgtgtcga	13	11	13	4	4	0	1	0	0	0	1	1	3	0	1	0	2	1	3	0	2	7	5	rs149221149		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:153881733C>T	ENST00000511601.1	+	5	868	c.680C>T	c.(679-681)gCg>gTg	p.A227V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	227	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363																																						uc003inf.2																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(679-681)gCg>gTg		Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.		C	VAL/ALA	0,4406		0,0,2203	112	108	109		680	4.7	0	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense	FHDC1	NM_033393.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	227/1144	153881733	2,13004	2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153881733C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.680C>T	4.37:g.153881733C>T	ENSP00000427567:p.Ala227Val						p.A227V	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			3	755	+	all_hematologic(180;0.093)		227			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.680C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514589	0.44763	0.0	2.33E-4	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.18174	2.23;2.23	5.6	4.74	0.60224	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.878418	0.10250	N	0.697271	T	0.30355	0.0762	M	0.79693	2.465	0.09310	N	1	D	0.54964	0.969	P	0.44561	0.453	T	0.25467	-1.0131	10	0.54805	T	0.06	.	14.4559	0.67416	0.2676:0.7324:0.0:0.0	.	227	Q9C0D6	FHDC1_HUMAN	V	227	ENSP00000427567:A227V;ENSP00000260008:A227V	ENSP00000260008:A227V	A	+	2	0	FHDC1	154101183	0.432000	0.25554	0.005000	0.12908	0.824000	0.46624	2.167000	0.42415	1.452000	0.47756	0.655000	0.94253	GCG		0.363	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		T	153881733	C	T	153881733	3	4	66	1	0	0	0	0	1	0	0	0	5876	768	27	1	694	1	FHDC1	4	153881733	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	4524460	153881733	37272543	15	4350											
PLEKHG4B	153478	broad.mit.edu	37	chr5	143328	143328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaagcaggtgctggaCgtcagtcaggagctgctgca	8	7	15	11	1	2	0	2	0	0	0	2	2	2	2	1	3	6	5	1	3	1	0	rs571906695	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:143328C>T	ENST00000283426.6	+	2	626	c.576C>T	c.(574-576)gaC>gaT	p.D192D	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	192							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGTGCTGGACGTCAGTCAGG	0.662													C|||	2	0.000399361	0	0	5008	,	,		18986	0.002		0	False		,,,				2504	0					uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(574-576)gaC>gaT		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							38	44	42					5																	143328		2202	4299	6501	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:143328C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.576C>T	5.37:g.143328C>T							p.D192D	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	626	+			192						Silent	SNP	ENST00000283426.6	37	c.576C>T	CCDS34124.1																																																																																				0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	143328	C	T	143328	2	4	66	1	0	0	0	0	0	0	0	1	12072	535	19	1		1	PLEKHG4B	5	143328	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		143328	180771932	16	4351											
FTMT	94033	broad.mit.edu	37	chr5	121187738	121187738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgcgctgctgcttcgCgctcccgctgcgttgggccc	0	9	14	18	6	0	0	0	0	0	0	2	0	1	0	3	2	4	6	3	2	0	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:121187738C>T	ENST00000321339.1	+	1	89	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	27					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCTGCTTCGCGCTCCCGCTG	0.741																																						uc003kss.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(79-81)gCg>gTg		Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.							12	14	14					5																	121187738		2195	4280	6475	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187738C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.80C>T	5.37:g.121187738C>T	ENSP00000313691:p.Ala27Val						p.A27V	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	0	89	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	27						Missense_Mutation	SNP	ENST00000321339.1	37	c.80C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455249	0.26161	.	.	ENSG00000181867	ENST00000321339	T	0.67523	-0.27	3.06	-2.85	0.05734	.	.	.	.	.	T	0.44138	0.1279	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	9	0.62326	D	0.03	.	0.1839	0.00126	0.3309:0.2086:0.1437:0.3167	.	27	Q8N4E7	FTMT_HUMAN	V	27	ENSP00000313691:A27V	ENSP00000313691:A27V	A	+	2	0	FTMT	121215637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.163000	0.09997	-0.721000	0.04929	-0.188000	0.12872	GCG		0.741	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		T	121187738	C	T	121187738	3	4	66	1	0	0	0	0	1	0	0	0	6085	768	27	1	82	1	FTMT	5	121187738	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	121044410	121187738	59727522	17	4352											
PCDHA2	56146	broad.mit.edu	37	chr5	140175903	140175903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgacgtgaacgacaacGcgccggcgttcgcacagcct	8	5	13	15	8	0	1	0	1	0	0	1	3	0	1	3	2	3	2	3	2	2	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:140175903G>A	ENST00000526136.1	+	1	1354	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A452T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A452T|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGTT	0.647																																						uc003lhd.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1354-1356)Gcg>Acg		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							78	78	78					5																	140175903		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140175903G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1354G>A	5.37:g.140175903G>A	ENSP00000431748:p.Ala452Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHAC2_uc011czy.2_Missense_Mutation_p.A452T	p.A452T	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1460	+			466			Cadherin 4.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1354G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	15.06	2.720138	0.48728	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61742	0.08;0.08;0.08	3.98	3.98	0.46160	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39475	U	0.001346	T	0.65037	0.2653	M	0.79258	2.445	0.23743	N	0.996966	D;P;D	0.63880	0.993;0.869;0.993	P;P;P	0.50049	0.629;0.453;0.629	T	0.61797	-0.6989	10	0.51188	T	0.08	.	12.3449	0.55116	0.0:0.1704:0.8295:0.0	.	452;452;452	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	452	ENSP00000430584:A452T;ENSP00000367372:A452T;ENSP00000431748:A452T	ENSP00000367372:A452T	A	+	1	0	PCDHA2	140156087	0.090000	0.21635	0.994000	0.49952	0.447000	0.32167	1.624000	0.37018	1.920000	0.55613	0.650000	0.86243	GCG		0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140175903	G	A	140175903	3	1	66	1	0	0	0	0	1	0	0	0	11524	1087	38	1	1356	1	PCDHA2	5	140175903	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	18988165	140175903	40739357	18	4353											
ADRA1B	147	broad.mit.edu	37	chr5	159344026	159344026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgagcaactccacactgccCcagctggacatcaccagggc	10	5	9	17	1	1	0	1	0	0	0	3	2	2	1	4	2	4	2	4	2	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:159344026C>T	ENST00000306675.3	+	1	237	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	38					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCACACTGCCCCAGCTGGACA	0.587																																						uc003lxt.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(112-114)ccC>ccT		Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						81	81	81					5																	159344026		2203	4300	6503	SO:0001819	synonymous_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344026C>T	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.114C>T	5.37:g.159344026C>T							p.P38P	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		0	287	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	38					B0LPE1	Silent	SNP	ENST00000306675.3	37	c.114C>T	CCDS4347.1																																																																																				0.587	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			T	159344026	C	T	159344026	2	4	66	1	0	0	0	0	0	0	0	1	335	610	22	3		3	ADRA1B	5	159344026	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	19168123	159344026	21571234	19	4354											
RGS14	10636	broad.mit.edu	37	chr5	176795734	176795734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagccaccggaagagccTtgggagcacggagggtgaaa	12	4	16	9	2	1	3	1	1	0	2	1	6	1	6	3	4	3	1	3	4	2	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:176795734T>C	ENST00000408923.3	+	9	1054	c.866T>C	c.(865-867)cTt>cCt	p.L289P		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	289					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGAAGAGCCTTGGGAGCACG	0.582											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(47;353 1896 28036)	uc003mgh.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(865-867)cTt>cCt		Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.							74	89	84					5																	176795734		2051	4196	6247	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176795734T>C	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.866T>C	5.37:g.176795734T>C	ENSP00000386229:p.Leu289Pro		OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1933	RGS14_uc003mgf.3_Missense_Mutation_p.L289P|RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgi.3_Missense_Mutation_p.L59P	p.L289P	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1048	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	289					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.866T>C	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140798	0.37825	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.44482	0.92	4.06	4.06	0.47325	.	0.473950	0.20378	N	0.093507	T	0.55210	0.1906	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.984	D;D;D;P	0.69307	0.963;0.961;0.952;0.642	T	0.56962	-0.7892	10	0.72032	D	0.01	-8.7136	8.0063	0.30327	0.0:0.0929:0.0:0.9071	.	59;136;136;289	B3KUX0;O43566-5;O43566-4;O43566	.;.;.;RGS14_HUMAN	P	289;69	ENSP00000386229:L289P	ENSP00000336864:L69P	L	+	2	0	RGS14	176728340	1.000000	0.71417	0.989000	0.46669	0.419000	0.31324	2.403000	0.44530	1.684000	0.51022	0.459000	0.35465	CTT		0.582	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		C	176795734	T	C	176795734	3	2	66	1	0	0	0	0	1	0	0	0	13297	1609	56	4	900	4	RGS14	5	176795734	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	17451708	176795734	4119526	20	4355											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213024	28213024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggattttctgatgttcaAtaagacttctattccgtgtg	8	18	9	6	1	3	2	1	1	2	1	4	3	4	3	1	1	0	1	1	1	3	7			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:28213024A>G	ENST00000377294.2	-	5	1751	c.1508T>C	c.(1507-1509)aTt>aCt	p.I503T	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I348T	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	503					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGATGTTCAATAAGACTTCT	0.428																																						uc003nks.1																			0		p.I503I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1507-1509)aTt>aCt		Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.							120	116	117					6																	28213024		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213024A>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1508T>C	6.37:g.28213024A>G	ENSP00000366509:p.Ile503Thr					ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	p.I503T	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			4	1752	-			503					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1508T>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009153	0.35415	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.16196	2.36;2.36	5.58	-0.904	0.10530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.01228	-0.945	0.09310	N	1	P	0.39717	0.684	B	0.41036	0.346	T	0.27640	-1.0068	9	0.35671	T	0.21	.	2.2475	0.04035	0.3056:0.1523:0.3954:0.1467	.	503	Q969J2	ZKSC4_HUMAN	T	503;348	ENSP00000366509:I503T;ENSP00000401978:I348T	ENSP00000366509:I503T	I	-	2	0	ZKSCAN4	28321003	0.000000	0.05858	0.006000	0.13384	0.965000	0.64279	-1.176000	0.03099	0.162000	0.19483	0.533000	0.62120	ATT		0.428	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		G	28213024	A	G	28213024	3	3	66	1	0	0	0	0	1	0	0	0	17686	101	4	4	133	4	ZKSCAN4	6	28213024	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08		28213024	142902043	21	4356											
SYNE1	23345	broad.mit.edu	37	chr6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgctgagttccagaCgctggagctgttccaactcc	7	11	11	12	1	1	2	1	1	0	1	4	3	4	3	3	1	3	5	3	1	1	2	rs143049227		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:152461140C>T	ENST00000367255.5	-	140	26004	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R8468H(5)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)																												uc021zhb.1																			5	Substitution - Missense(5)	p.R8468H(8)	NS(2)|central_nervous_system(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25402-25404)cGt>cAt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	97	104		25259,25403	1.6	0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	8420/8750,8468/8798	152461140	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461140C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25403G>A	6.37:g.152461140C>T	ENSP00000356224:p.Arg8468His	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	p.R8468H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25626	-		Ovarian(120;0.0955)	8468		R -> H (in a colorectal cancer sample; somatic mutation).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470783	0.12461	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.92	1.61	0.23674	.	0.227351	0.31156	N	0.008147	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.015;0.012;0.015;0.008	B;B;B;B;B	0.17433	0.018;0.018;0.011;0.018;0.013	T	0.32481	-0.9905	10	0.21540	T	0.41	.	9.0212	0.36202	0.0:0.6038:0.0:0.3962	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468H;ENSP00000441052:R623H;ENSP00000356226:R1114H;ENSP00000396024:R8420H;ENSP00000265368:R8468H;ENSP00000390975:R8420H;ENSP00000341887:R8080H;ENSP00000349276:R2992H;ENSP00000356220:R1413H;ENSP00000346701:R646H	ENSP00000265368:R8468H	R	-	2	0	SYNE1	152502833	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	-0.096000	0.11059	0.000000	0.14550	-0.254000	0.11334	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152461140	C	T	152461140	3	4	66	1	0	0	0	0	1	0	0	0	15442	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	124248116	152461140	18653927	22	4357											
AHR	196	broad.mit.edu	37	chr7	17367444	17367444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttttatgcttcttctaCtatacaagattatctagggt	9	18	7	7	0	4	1	0	0	4	1	4	1	4	1	0	2	3	1	0	2	7	9			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:17367444C>A	ENST00000242057.4	+	4	1065	c.422C>A	c.(421-423)aCt>aAt	p.T141N		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	141	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GCTTCTTCTACTATACAAGAT	0.279																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(421-423)aCt>aAt		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							148	142	144					7																	17367444		2203	4298	6501	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17367444C>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.422C>A	7.37:g.17367444C>A	ENSP00000242057:p.Thr141Asn						p.T141N	NM_001621	NP_001612	P35869	AHR_HUMAN			3	1035	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		141			PAS 1.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.422C>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208299	0.79240	.	.	ENSG00000106546	ENST00000242057	T	0.15718	2.4	5.76	5.76	0.90799	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.42487	1.325	0.58432	D	0.999997	P	0.44946	0.846	P	0.47786	0.557	T	0.00302	-1.1834	10	0.62326	D	0.03	.	19.9634	0.97258	0.0:1.0:0.0:0.0	.	141	P35869	AHR_HUMAN	N	141	ENSP00000242057:T141N	ENSP00000242057:T141N	T	+	2	0	AHR	17333969	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.742000	0.68646	2.721000	0.93114	0.563000	0.77884	ACT		0.279	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17367444	C	A	17367444	3	1	66	1	0	0	0	0	1	0	0	0	416	565	20	5	436	5	AHR	7	17367444	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		17367444	141771219	23	4358											
RAPGEF5	9771	broad.mit.edu	37	chr7	22165268	22165268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggttcggacagtgtctgcGatcatatgctgtaaagtaga	11	11	13	6	2	2	1	1	0	1	1	3	3	2	2	0	2	2	4	0	2	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:22165268G>A	ENST00000401957.2	-	15	1828	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	RAPGEF5_ENST00000344041.6_Silent_p.I677I			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	527	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGTGTCTGCGATCATATGCT	0.463																																						uc003svg.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(2029-2031)atC>atT		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.							155	147	150					7																	22165268		1994	4169	6163	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22165268G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1581C>T	7.37:g.22165268G>A							p.I677I	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			24	2344	-			527					A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37	c.2031C>T																																																																																					0.463	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		A	22165268	G	A	22165268	2	1	66	1	0	0	0	0	0	0	0	1	13047	1048	37	2		2	RAPGEF5	7	22165268	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	4797824	22165268	136973395	24	4359											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		6	Substitution - Missense(6)	p.R108K(13)|p.V30_R297>G(5)	central_nervous_system(6)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)aGa>aAa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	119	119					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55211080	G	A	55211080	3	1	66	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	33045812	55211080	103927583	25	4360											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55221822C>A	ENST00000275493.2	+	7	1043	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_ENST00000420316.2_Missense_Mutation_p.A289D|EGFR_ENST00000455089.1_Missense_Mutation_p.A244D|EGFR_ENST00000454757.2_Missense_Mutation_p.A236D|EGFR_ENST00000342916.3_Missense_Mutation_p.A289D|EGFR_ENST00000344576.2_Missense_Mutation_p.A289D|EGFR_ENST00000442591.1_Missense_Mutation_p.A289D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>A	7.37:g.55221822C>A	ENSP00000275493:p.Ala289Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459485	0.96240	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.41710	1.295	0.80722	D	1	P;D;P;D;P	0.69078	0.933;0.997;0.954;0.991;0.685	B;D;P;P;B	0.79784	0.424;0.993;0.652;0.649;0.241	T	0.74890	-0.3510	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	D	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244D;ENSP00000342376:A289D;ENSP00000345973:A289D;ENSP00000413843:A289D;ENSP00000275493:A289D;ENSP00000410031:A289D;ENSP00000395243:A236D	ENSP00000275493:A289D	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221822	C	A	55221822	3	1	66	1	0	0	0	0	1	0	0	0	4967	739	26	5	892	5	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	10742	55221822	103916841	26	4361											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	66	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	11221	55233043	103905620	27	4362											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621816	99621816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctgagatgctcgcaaggGggatggtgcctctggatcca	8	8	15	10	1	1	1	0	1	1	1	3	5	2	3	3	4	2	2	3	4	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:99621816G>A	ENST00000324306.6	+	3	700	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G120R	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTCGCAAGGGGGATGGTGCC	0.507																																						uc003usk.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(466-468)Ggg>Agg		Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.							95	84	88					7																	99621816		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621816G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.466G>A	7.37:g.99621816G>A	ENSP00000323148:p.Gly156Arg					ZKSCAN1_uc003usj.3_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	p.G156R	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	685	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		156					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.466G>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774319	0.69992	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.07444	3.23;3.19	4.69	3.81	0.43845	Transcription regulator SCAN (1);	0.262283	0.27219	N	0.020366	T	0.03608	0.0103	N	0.08118	0	0.80722	D	1	B;P	0.40476	0.001;0.718	B;B	0.31337	0.002;0.128	T	0.51942	-0.8641	10	0.52906	T	0.07	.	8.4972	0.33136	0.1052:0.0:0.8948:0.0	.	156;120	P17029;E9PC66	ZKSC1_HUMAN;.	R	156;120	ENSP00000323148:G156R;ENSP00000409172:G120R	ENSP00000323148:G156R	G	+	1	0	ZKSCAN1	99459752	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.024000	0.49674	1.203000	0.43233	0.491000	0.48974	GGG		0.507	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		A	99621816	G	A	99621816	3	1	66	1	0	0	0	0	1	0	0	0	17683	1232	43	3	472	3	ZKSCAN1	7	99621816	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	44388773	99621816	59516847	28	4363											
DOCK4	9732	broad.mit.edu	37	chr7	111395650	111395650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgacgttctctccaccCagagactctacaaaacacaa	16	8	4	13	1	2	2	0	1	2	1	4	3	3	2	2	0	2	1	2	0	5	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:111395650C>T	ENST00000437633.1	-	41	4566	c.4310G>A	c.(4309-4311)tGg>tAg	p.W1437*	DOCK4_ENST00000494651.2_Nonsense_Mutation_p.W320*|DOCK4_ENST00000428084.1_Nonsense_Mutation_p.W1446*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1437	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTCTCCACCCAGAGACTCTA	0.453																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4444-4446)tGg>tAg		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							125	116	119					7																	111395650		1939	4136	6075	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111395650C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4310G>A	7.37:g.111395650C>T	ENSP00000404179:p.Trp1437*					DOCK4_uc011kml.2_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.2_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.3_Nonsense_Mutation_p.W887*|DOCK4_uc003vfx.3_Nonsense_Mutation_p.W1437*	p.W1482*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			42	4714	-		Acute lymphoblastic leukemia(1;0.0441)	1437			DHR-2.		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.4445G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.153707|11.153707	0.99523|0.99523	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46483|.	0.1395|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36962|.	-0.9726|.	3|.	.|0.02654	.|T	.|1	.|.	18.7549|18.7549	0.91828|0.91828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	898;1470|1425;1446;320;1437;1434	.|.	.|ENSP00000345432:W1434X	G|W	-|-	1|2	0|0	DOCK4|DOCK4	111182886|111182886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.453	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111395650	C	T	111395650	4	4	66	1	0	0	0	0	0	1	0	0	4689	595	21	3	1638	3	DOCK4	7	111395650	Nonsense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	11773834	111395650	47743013	29	4364											
WNT2	7472	broad.mit.edu	37	chr7	116960624	116960624	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaggagacttacttcGgagtaggaccctgccaaaaa	14	6	12	9	1	0	1	0	0	0	1	1	5	0	3	2	4	2	2	2	4	5	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:116960624G>A	ENST00000265441.3	-	2	606	c.307C>T	c.(307-309)Cga>Tga	p.R103*	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	103					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTACTTCGGAGTAGGACC	0.547																																						uc003viz.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(307-309)Cga>Tga		Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.							75	57	63					7																	116960624		2203	4300	6503	SO:0001587	stop_gained	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960624G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.307C>T	7.37:g.116960624G>A	ENSP00000265441:p.Arg103*					WNT2_uc003vja.3_Missense_Mutation_p.P28L	p.R103*	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	607	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		103					A4D0V1|Q75N05|Q9UDP9	Nonsense_Mutation	SNP	ENST00000265441.3	37	c.307C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091846	0.94149	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	.	.	.	5.28	5.28	0.74379	.	0.186985	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000265441:R103X	R	-	1	2	WNT2	116747860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.219000	0.65262	2.604000	0.88044	0.655000	0.94253	CGA		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		A	116960624	G	A	116960624	4	1	66	1	0	0	0	0	0	1	0	0	17383	1124	39	2	791	2	WNT2	7	116960624	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	5564974	116960624	42178039	30	4365											
TMEM209	84928	broad.mit.edu	37	chr7	129813714	129813714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtaaaagtttttccGtcgggatacttcggatgtgg	10	13	13	5	3	0	1	0	1	0	1	3	4	1	3	1	3	1	2	1	3	4	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:129813714G>A	ENST00000397622.2	-	12	1532	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	TMEM209_ENST00000336804.8_Silent_p.D427D|TMEM209_ENST00000473456.1_Silent_p.D428D|TMEM209_ENST00000462753.1_Silent_p.D469D|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	470						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGTTTTTCCGTCGGGATACT	0.363																																						uc003vpn.2																			0		p.G470*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(1408-1410)gaC>gaT		Homo sapiens transmembrane protein 209 (TMEM209), mRNA.							202	196	198					7																	129813714		1831	4089	5920	SO:0001819	synonymous_variant	84928					integral to membrane		g.chr7:129813714G>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1410C>T	7.37:g.129813714G>A						TMEM209_uc010lmc.1_Silent_p.D428D	p.D470D	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			11	1533	-	Melanoma(18;0.0435)		470					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Silent	SNP	ENST00000397622.2	37	c.1410C>T	CCDS47712.1																																																																																				0.363	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		A	129813714	G	A	129813714	2	1	66	1	0	0	0	0	0	0	0	1	16131	1136	40	1		1	TMEM209	7	129813714	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	12853090	129813714	29324949	31	4366											
RAB19	401409	broad.mit.edu	37	chr7	140107592	140107592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagacacagcagaacaCgattggagtggactttaccg	13	7	11	10	2	0	2	0	1	0	2	0	6	0	4	1	2	3	1	1	2	2	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:140107592C>T	ENST00000356407.3	+	1	214	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RAB19_ENST00000275874.5_Missense_Mutation_p.T49M|RAB19_ENST00000537763.1_Missense_Mutation_p.T49M			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	49					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAGCAGAACACGATTGGAGTG	0.468																																						uc010lni.2																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(145-147)aCg>aTg		Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.							148	123	131					7																	140107592		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140107592C>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.146C>T	7.37:g.140107592C>T	ENSP00000348778:p.Thr49Met					RAB19_uc011krc.1_Missense_Mutation_p.T49M	p.T49M	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			1	344	+	Melanoma(164;0.0142)		49					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.146C>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009205	0.93346	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96963	0.9703	10	0.87932	D	0	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	49	A4D1S5	RAB19_HUMAN	M	49	ENSP00000420782:T49M;ENSP00000275874:T49M;ENSP00000440167:T49M;ENSP00000348778:T49M	ENSP00000275874:T49M	T	+	2	0	RAB19	139754061	1.000000	0.71417	0.972000	0.41901	0.902000	0.53008	7.723000	0.84788	2.871000	0.98454	0.655000	0.94253	ACG		0.468	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			T	140107592	C	T	140107592	3	4	66	1	0	0	0	0	1	0	0	0	12904	536	19	1	148	1	RAB19	7	140107592	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	10293878	140107592	19031071	32	4367											
DLGAP2	9228	broad.mit.edu	37	chr8	1496906	1496906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagccgccgctgtgttccgGgcacacgtgtggtctggcgc	3	8	15	15	5	1	0	0	0	1	0	2	0	2	0	4	3	1	3	4	3	0	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:1496906G>A	ENST00000421627.2	+	2	181	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	95					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGTGTTCCGGGCACACGTGT	0.721																																						uc003wpl.3																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(46-48)gGg>gAg		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							8	9	9					8																	1496906		1606	3404	5010	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1496906G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.47G>A	8.37:g.1496906G>A	ENSP00000400258:p.Gly16Glu					DLGAP2_uc003wpm.3_Missense_Mutation_p.G16E	p.G16E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	1	144	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	95					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.47G>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.069146|2.069146	0.36470|0.36470	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|T	0.11495|0.11385	2.77|2.78	4.95|4.95	4.05|4.05	0.47172|0.47172	.|.	0.356377|0.356377	0.29233|0.29233	N|N	0.012750|0.012750	T|T	0.20414|0.20414	0.0491|0.0491	L|L	0.59436|0.59436	1.845|1.845	0.40171|0.40171	D|D	0.977177|0.977177	P;P|.	0.41041|.	0.554;0.736|.	B;B|.	0.39299|.	0.296;0.169|.	T|T	0.01869|0.01869	-1.1257|-1.1257	10|8	0.18710|0.27082	T|T	0.47|0.32	-12.4922|-12.4922	14.3713|14.3713	0.66840|0.66840	0.0:0.3561:0.6439:0.0|0.0:0.3561:0.6439:0.0	.|.	95;95|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	E|S	61;16|33	ENSP00000400258:G16E|ENSP00000430563:G33S	ENSP00000348366:G61E|ENSP00000430563:G33S	G|G	+|+	2|1	0|0	DLGAP2|DLGAP2	1484313|1484313	1.000000|1.000000	0.71417|0.71417	0.136000|0.136000	0.22124|0.22124	0.687000|0.687000	0.40016|0.40016	2.810000|2.810000	0.47979|0.47979	1.015000|1.015000	0.39444|0.39444	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.721	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1496906	G	A	1496906	3	1	66	1	0	0	0	0	1	0	0	0	4560	1232	43	3	49	3	DLGAP2	8	1496906	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		1496906	144867116	33	4368											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254921	24254921	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgtgaagagcactgaCgggaaacaaggcccaattcg	12	7	14	8	2	0	3	0	2	0	1	1	4	0	4	1	3	2	1	1	3	4	1	rs141288918		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:24254921C>T	ENST00000256412.4	+	6	799	c.579C>T	c.(577-579)gaC>gaT	p.D193D	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.D114D|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Silent_p.D114D	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	193					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAGCACTGACGGGAAACAAG	0.443																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(577-579)gaC>gaT		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.		C	,,	3,4403	6.2+/-15.9	0,3,2200	205	199	201		342,342,579	5.5	0.9	8	dbSNP_134	201	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	114/392,114/392,193/471	24254921	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254921C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.579C>T	8.37:g.24254921C>T						ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	p.D193D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	5	799	+		Prostate(55;0.0181)	193					B7ZAK5	Silent	SNP	ENST00000256412.4	37	c.579C>T	CCDS6044.1																																																																																				0.443	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		T	24254921	C	T	24254921	2	4	66	1	0	0	0	0	0	0	0	1	254	535	19	1		1	ADAMDEC1	8	24254921	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	22758015	24254921	122109101	34	4369											
SDCBP	6386	broad.mit.edu	37	chr8	59492353	59492353	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtcattggattgaaGgtaaggaacagactttgtgc	13	11	12	5	0	1	3	1	1	0	2	1	5	1	5	0	3	2	1	0	3	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:59492353G>A	ENST00000260130.4	+	7	900	c.750G>A	c.(748-750)aaG>aaA	p.K250K	SDCBP_ENST00000422546.2_Splice_Site_p.K249K|SDCBP_ENST00000520168.1_Splice_Site_p.K191K|SDCBP_ENST00000424270.2_Splice_Site_p.K244K|SDCBP_ENST00000447267.2_Splice_Site_p.K196K|SDCBP_ENST00000523483.1_Splice_Site_p.K270K|SDCBP_ENST00000447182.2_Splice_Site_p.K249K|SDCBP_ENST00000413219.2_Splice_Site_p.K250K	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	250	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTGGATTGAAGGTAAGGAACA	0.398																																						uc003xtn.3																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.e7+1		Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.							123	114	117					8																	59492353		2203	4300	6503	SO:0001630	splice_region_variant	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59492353G>A	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.750+1G>A	8.37:g.59492353G>A						SDCBP_uc003xto.3_Splice_Site_p.K249_splice|SDCBP_uc003xtr.3_Splice_Site_p.K249_splice|SDCBP_uc003xtq.3_Splice_Site_p.K250_splice|SDCBP_uc003xtp.3_Splice_Site_p.K244_splice|SDCBP_uc003xts.3_Splice_Site_p.K256_splice|SDCBP_uc011led.2_Splice_Site_p.K191_splice	p.K250_splice	NM_005625	NP_005616	O00560	SDCB1_HUMAN			7	900	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	250			PDZ 2.		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	ENST00000260130.4	37	c.750_splice	CCDS6172.1																																																																																				0.398	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625	Silent	A	59492353	G	A	59492353	5	1	66	1	0	0	0	0	0	0	1	0	13955	1014	35	3	772	3	SDCBP	8	59492353	Splice_Site	SNP	G	TCGA-06-0876-01A-01W-0424-08	35237432	59492353	86871669	35	4370											
DOCK8	81704	broad.mit.edu	37	chr9	396909	396909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtcacctcggaaattgCagcccttttagtaaaaccac	11	11	8	11	1	1	0	1	0	0	0	2	1	1	1	3	2	3	2	3	2	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:396909C>G	ENST00000453981.1	+	25	3207	c.3095C>G	c.(3094-3096)gCa>gGa	p.A1032G	DOCK8_ENST00000382329.1_Missense_Mutation_p.A499G|DOCK8_ENST00000382331.1_Missense_Mutation_p.A334G|DOCK8_ENST00000432829.2_Missense_Mutation_p.A964G|DOCK8_ENST00000469391.1_Missense_Mutation_p.A932G			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1032					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCGGAAATTGCAGCCCTTTTA	0.348																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3094-3096)gCa>gGa		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							128	125	126					9																	396909		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:396909C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3095C>G	9.37:g.396909C>G	ENSP00000408464:p.Ala1032Gly					DOCK8_uc022bcu.1_Missense_Mutation_p.A964G|DOCK8_uc010mgv.3_Missense_Mutation_p.A932G|DOCK8_uc010mgu.3_Missense_Mutation_p.A334G|DOCK8_uc010mgw.2_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	p.A1032G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	24	3207	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1032					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3095C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828852	0.32329	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.7	5.7	0.88788	.	0.100234	0.64402	D	0.000003	T	0.13415	0.0325	N	0.13043	0.29	0.45837	D	0.9987	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.14309	-1.0477	10	0.18276	T	0.48	.	15.3353	0.74247	0.0:0.861:0.139:0.0	.	334;932;499;1032	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	G	1032;1000;964;932;334;499	ENSP00000408464:A1032G;ENSP00000394888:A964G;ENSP00000419438:A932G;ENSP00000371768:A334G;ENSP00000371766:A499G	ENSP00000287364:A1000G	A	+	2	0	DOCK8	386909	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.635000	0.46537	2.683000	0.91414	0.655000	0.94253	GCA		0.348	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		G	396909	C	G	396909	3	3	66	1	0	0	0	0	1	0	0	0	4693	710	25	5	3193	5	DOCK8	9	396909	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		396909	140816522	36	4371											
DOCK8	81704	broad.mit.edu	37	chr9	399200	399200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttcttcttgtatgacCttctctccctcatggatcgg	4	17	8	12	1	4	1	1	1	3	0	7	2	5	2	2	3	0	2	2	3	1	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:399200C>G	ENST00000453981.1	+	26	3287	c.3175C>G	c.(3175-3177)Ctt>Gtt	p.L1059V	DOCK8_ENST00000382329.1_Missense_Mutation_p.L526V|DOCK8_ENST00000382331.1_Missense_Mutation_p.L361V|DOCK8_ENST00000432829.2_Missense_Mutation_p.L991V|DOCK8_ENST00000469391.1_Missense_Mutation_p.L959V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1059					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTGTATGACCTTCTCTCCCT	0.493																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3175-3177)Ctt>Gtt		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							177	157	164					9																	399200		2202	4300	6502	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:399200C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3175C>G	9.37:g.399200C>G	ENSP00000408464:p.Leu1059Val					DOCK8_uc022bcu.1_Missense_Mutation_p.L991V|DOCK8_uc010mgv.3_Missense_Mutation_p.L959V|DOCK8_uc010mgu.3_Missense_Mutation_p.L361V|DOCK8_uc010mgw.2_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	p.L1059V	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3287	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1059					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3175C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617161	0.87359	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	6.04	6.04	0.98038	.	0.060147	0.64402	D	0.000002	T	0.45875	0.1364	M	0.80508	2.5	0.80722	D	1	P;P;P;P	0.41597	0.544;0.756;0.756;0.756	B;B;B;B	0.42555	0.16;0.391;0.391;0.391	T	0.43750	-0.9372	10	0.48119	T	0.1	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	361;959;526;1059	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	V	1059;1027;991;959;361;526	ENSP00000408464:L1059V;ENSP00000394888:L991V;ENSP00000419438:L959V;ENSP00000371768:L361V;ENSP00000371766:L526V	ENSP00000287364:L1027V	L	+	1	0	DOCK8	389200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.909000	0.69923	2.873000	0.98535	0.563000	0.77884	CTT		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		G	399200	C	G	399200	3	3	66	1	0	0	0	0	1	0	0	0	4693	681	24	5	3277	5	DOCK8	9	399200	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	2291	399200	140814231	37	4372											
DOCK8	81704	broad.mit.edu	37	chr9	439373	439373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctggagcaggccgcGgagctcttcagcacggtcag	6	6	15	14	3	3	0	2	0	1	0	4	2	4	2	3	5	3	3	3	5	0	1	rs144172375	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:439373G>A	ENST00000453981.1	+	40	5320	c.5208G>A	c.(5206-5208)gcG>gcA	p.A1736A	DOCK8_ENST00000382329.1_Silent_p.A1203A|DOCK8_ENST00000432829.2_Silent_p.A1668A|DOCK8_ENST00000469391.1_Silent_p.A1636A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1736	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGCCGCGGAGCTCTTCA	0.647																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5206-5208)gcG>gcA		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.		G	,,	0,4406		0,0,2203	51	47	49		4908,5004,5208	-9.8	0	9	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1636/2000,1668/2032,1736/2100	439373	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439373G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5208G>A	9.37:g.439373G>A						DOCK8_uc022bcu.1_Silent_p.A1668A|DOCK8_uc010mgv.3_Silent_p.A1636A|DOCK8_uc010mgu.3_Silent_p.A1038A|DOCK8_uc003zgk.2_Silent_p.A1194A	p.A1736A	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5320	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1736			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.5208G>A	CCDS6440.2																																																																																				0.647	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	439373	G	A	439373	2	1	66	1	0	0	0	0	0	0	0	1	4693	1103	39	2		2	DOCK8	9	439373	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	40173	439373	140774058	38	4373											
OR2K2	26248	broad.mit.edu	37	chr9	114090506	114090506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagatgtgtaacaaatatCcatgaaagagagatttccaa	17	9	9	6	0	0	4	0	1	0	3	2	5	2	4	2	1	1	2	2	1	5	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:114090506C>T	ENST00000374428.1	-	1	294	c.295G>A	c.(295-297)Gat>Aat	p.D99N	OR2K2_ENST00000302681.1_Missense_Mutation_p.D70N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TAACAAATATCCATGAAAGAG	0.418																																						uc011lwp.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(208-210)Gat>Aat		Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.							81	82	82					9																	114090506		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090506C>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.295G>A	9.37:g.114090506C>T	ENSP00000363550:p.Asp99Asn						p.D70N	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			0	208	-			99					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.208G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.987123	0.74589	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.01165	5.24;5.24	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	U	0.000812	T	0.10508	0.0257	M	0.93898	3.47	0.38596	D	0.950552	D	0.89917	1.0	D	0.87578	0.998	T	0.01262	-1.1402	10	0.87932	D	0	.	15.262	0.73631	0.0:1.0:0.0:0.0	.	99	Q8NGT1	OR2K2_HUMAN	N	70;99	ENSP00000305055:D70N;ENSP00000363550:D99N	ENSP00000305055:D70N	D	-	1	0	OR2K2	113130327	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	4.541000	0.60670	2.551000	0.86045	0.591000	0.81541	GAT		0.418	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		T	114090506	C	T	114090506	3	4	66	1	0	0	0	0	1	0	0	0	11005	855	30	3	745	3	OR2K2	9	114090506	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	113651133	114090506	27122925	39	4374											
COL27A1	85301	broad.mit.edu	37	chr9	117020836	117020836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagggtcctccaggatctCgaggcccaccaggcatgagg	8	5	13	15	1	1	1	0	1	1	0	4	3	3	2	5	5	0	1	5	5	0	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:117020836C>T	ENST00000356083.3	+	28	3548	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1053	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1053*(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCAGGATCTCGAGGCCCACC	0.622																																						uc011lxl.2																			1	Substitution - Nonsense(1)	p.R1053*(2)	large_intestine(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3157-3159)Cga>Tga		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							49	47	47					9																	117020836		2203	4300	6503	SO:0001587	stop_gained	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117020836C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3157C>T	9.37:g.117020836C>T	ENSP00000348385:p.Arg1053*					COL27A1_uc004bii.3_Non-coding_Transcript	p.R1053*	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			27	3157	+			1053			Collagen-like 7.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Nonsense_Mutation	SNP	ENST00000356083.3	37	c.3157C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	46	12.535050	0.99675	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9936	0.64382	0.0:1.0:0.0:0.0	.	.	.	.	X	1053	.	ENSP00000348385:R1053X	R	+	1	2	COL27A1	116060657	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	2.365000	0.80145	0.462000	0.41574	CGA		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117020836	C	T	117020836	4	4	66	1	0	0	0	0	0	1	0	0	3685	876	31	2	3267	2	COL27A1	9	117020836	Nonsense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	2930330	117020836	24192595	40	4375											
C9orf171	389799	broad.mit.edu	37	chr9	135374759	135374759	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtctctccctgccctcagCcatcggacgctggaacgtgt	5	9	12	15	3	2	0	1	0	1	0	5	2	3	2	3	3	3	1	3	3	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:135374759C>T	ENST00000343036.2	+	4	452	c.404C>T	c.(403-405)gCc>gTc	p.A135V	C9orf171_ENST00000393216.2_Splice_Site_p.A99V|C9orf171_ENST00000393215.3_Splice_Site_p.A99V	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	135										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCTCAGCCATCGGACGC	0.647																																						uc004cbn.3																			0				large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						c.e4-1		Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.							45	46	46					9																	135374759		2203	4300	6503	SO:0001630	splice_region_variant	389799							g.chr9:135374759C>T	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.404-1C>T	9.37:g.135374759C>T						C9orf171_uc004cbo.3_Splice_Site_p.A99_splice	p.A135_splice	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			4	452	+			135					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.404_splice	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261377	0.80246	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.18338	2.22;2.22;2.22	5.26	5.26	0.73747	.	0.065538	0.64402	D	0.000016	T	0.36468	0.0968	L	0.47016	1.485	0.45648	D	0.998574	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.971	T	0.01298	-1.1392	9	.	.	.	.	18.212	0.89873	0.0:1.0:0.0:0.0	.	99;135	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	V	99;135;99	ENSP00000376908:A99V;ENSP00000343290:A135V;ENSP00000376909:A99V	.	A	+	2	0	C9orf171	134364580	1.000000	0.71417	0.978000	0.43139	0.750000	0.42670	4.879000	0.63100	2.618000	0.88619	0.561000	0.74099	GCC		0.647	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	Missense_Mutation	T	135374759	C	T	135374759	5	4	66	1	0	0	0	0	0	0	1	0	2470	753	26	3	418	3	C9orf171	9	135374759	Splice_Site	SNP	C	TCGA-06-0876-01A-01W-0424-08	18353923	135374759	5838672	41	4376											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508365	37508365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttgatgtgagtagtaCgatatataacaatgaggtgc	14	12	12	3	1	0	3	0	3	0	0	0	5	0	3	0	1	3	3	0	1	7	6	rs116869285		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:37508365C>T	ENST00000602533.1	+	34	3656	c.3557C>T	c.(3556-3558)aCg>aTg	p.T1186M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1186M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T1305M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1242					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGAGTAGTACGATATATAAC	0.363													C|||	1	0.000199681	0	0	5008	,	,		20889	0		0.001	False		,,,				2504	0					uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3556-3558)aCg>aTg		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.		C	MET/THR	0,3712		0,0,1856	63	56	58		3557	0.2	0	10	dbSNP_132	58	5,8177		0,5,4086	yes	missense	ANKRD30A	NM_052997.2	81	0,5,5942	TT,TC,CC		0.0611,0.0,0.042	probably-damaging	1186/1342	37508365	5,11889	1856	4091	5947	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508365C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3557C>T	10.37:g.37508365C>T	ENSP00000473551:p.Thr1186Met					ANKRD30A_uc001iza.1_Missense_Mutation_p.T1186M	p.T1186M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			33	3656	+			1242					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3557C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	5.284	0.237862	0.10023	0.0	6.11E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14022	2.54;2.54	2.75	0.202	0.15190	.	.	.	.	.	T	0.10852	0.0265	L	0.46157	1.445	0.09310	N	1	B	0.25772	0.134	B	0.12156	0.007	T	0.25293	-1.0136	9	0.46703	T	0.11	.	5.7896	0.18353	0.0:0.2645:0.0:0.7355	.	1242	Q9BXX3	AN30A_HUMAN	M	1186;1305	ENSP00000354432:T1186M;ENSP00000363792:T1305M	ENSP00000354432:T1186M	T	+	2	0	ANKRD30A	37548371	0.102000	0.21896	0.000000	0.03702	0.001000	0.01503	3.126000	0.50477	-0.163000	0.10946	-0.923000	0.02734	ACG		0.363	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37508365	C	T	37508365	3	4	66	1	0	0	0	0	1	0	0	0	658	536	19	1	3691	1	ANKRD30A	10	37508365	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		37508365	98026382	42	4377											
CHAT	1103	broad.mit.edu	37	chr10	50873009	50873009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgacatgagagacctcTgcagtctgctgccgcctact	8	11	9	13	1	3	3	1	2	2	1	3	4	3	3	3	0	4	2	3	0	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:50873009T>C	ENST00000337653.2	+	15	2317	c.2164T>C	c.(2164-2166)Tgc>Cgc	p.C722R	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_Missense_Mutation_p.C604R|CHAT_ENST00000395559.2_Missense_Mutation_p.C604R|CHAT_ENST00000395562.2_Missense_Mutation_p.C640R|CHAT_ENST00000339797.1_Missense_Mutation_p.C604R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	722					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GAGAGACCTCTGCAGTCTGCT	0.502																																						uc001jhz.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(2164-2166)Tgc>Cgc		Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	Choline(DB00122)						103	100	101					10																	50873009		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50873009T>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2164T>C	10.37:g.50873009T>C	ENSP00000337103:p.Cys722Arg					CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C640R|CHAT_uc010qgs.1_Intron	p.C722R	NM_020549	NP_066266	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	14	2317	+		all_neural(218;0.107)	722					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.2164T>C	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920365	0.73098	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.76	5.76	0.90799	.	0.085956	0.85682	D	0.000000	D	0.97939	0.9322	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98763	1.0725	10	0.72032	D	0.01	-23.956	16.0659	0.80870	0.0:0.0:0.0:1.0	.	722	P28329	CLAT_HUMAN	R	604;604;604;722;640	ENSP00000343486:C604R;ENSP00000345878:C604R;ENSP00000378926:C604R;ENSP00000337103:C722R;ENSP00000378929:C640R	ENSP00000337103:C722R	C	+	1	0	CHAT	50543015	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.963000	0.87922	2.209000	0.71365	0.533000	0.62120	TGC		0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		C	50873009	T	C	50873009	3	2	66	1	0	0	0	0	1	0	0	0	3313	1580	55	4	2266	4	CHAT	10	50873009	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	13364644	50873009	84661738	43	4378											
DLG5	9231	broad.mit.edu	37	chr10	79577582	79577582	+	Frame_Shift_Del	DEL	A	A	-																															tggacccatgggtggctctcAtctcggagtagtcgctgcag																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:79577582delA	ENST00000372391.2	-	18	3742	c.3737delT	c.(3736-3738)atgfs	p.M1246fs	DLG5_ENST00000372388.2_Frame_Shift_Del_p.M906fs|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1246					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTGGCTCTCATCTCGGAGTA	0.597																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3736-3738)atgfs		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							69	49	56					10																	79577582		2173	4253	6426	SO:0001589	frameshift_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79577582delA	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3737delT	10.37:g.79577582delA	ENSP00000361467:p.Met1246fs					DLG5_uc001jzi.3_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.3_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Del_p.M850fs	p.M1246fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		17	3807	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1246					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Del	DEL	ENST00000372391.2	37	c.3737delT	CCDS7353.2																																																																																				0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			-	79577582	A	-	79577582	7	5	66	1	0	1	0	1	0	0	0	0	4558	217	8	0	2082	0	DLG5	10	79577582	Frame_Shift_Del	DEL	A	TCGA-06-0876-01A-01W-0424-08	28704573	79577582	55957165	44	4379											
PTEN	5728	broad.mit.edu	37	chr10	89653838	89653838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaagacttgaaggcgtaTacaggaacaatattgatgat	17	9	10	5	1	0	5	0	3	0	2	0	6	0	6	0	2	2	1	0	2	7	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:89653838T>C	ENST00000371953.3	+	2	1493	c.136T>C	c.(136-138)Tac>Cac	p.Y46H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	46	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.G44fs*11(1)|p.G44fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGGCGTATACAGGAACAA	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		49	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V45V(2)|p.V45fs*10(1)|p.Y46C(1)|p.Y46*(1)|p.G44fs*8(1)|p.Y46H(1)|p.G44fs*11(1)|p.V45fs*9(1)	prostate(15)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(136-138)Tac>Cac		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							113	113	113					10																	89653838		2203	4296	6499	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653838T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.136T>C	10.37:g.89653838T>C	ENSP00000361021:p.Tyr46His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y46H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1168	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	46			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.136T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730096	0.89390	.	.	ENSG00000171862	ENST00000371953	D	0.98666	-5.06	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99379	1.0922	9	.	.	.	-2.423	14.0135	0.64511	0.0:0.0:0.0:1.0	.	46	P60484	PTEN_HUMAN	H	46	ENSP00000361021:Y46H	.	Y	+	1	0	PTEN	89643818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	1.959000	0.56917	0.533000	0.62120	TAC		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89653838	T	C	89653838	3	2	66	1	0	0	0	0	1	0	0	0	12738	1406	49	4	142	4	PTEN	10	89653838	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	10076256	89653838	45880909	45	4380											
OR4X2	119764	broad.mit.edu	37	chr11	48266856	48266856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagatctgctactcctcCgctacagcccccaaactcat	10	9	6	16	1	2	1	1	0	1	1	4	2	4	1	4	1	5	2	4	1	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:48266856C>T	ENST00000302329.3	+	1	249	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502																																						uc001ngs.1																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(199-201)tcC>tcT		Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.							144	139	140					11																	48266856		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266856C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.201C>T	11.37:g.48266856C>T							p.S67S	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			0	201	+			67					B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.201C>T	CCDS31486.1																																																																																				0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		T	48266856	C	T	48266856	2	4	66	1	0	0	0	0	0	0	0	1	11085	639	23	2		2	OR4X2	11	48266856	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		48266856	86739660	46	4381											
CTSW	1521	broad.mit.edu	37	chr11	65647754	65647754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggagttacctgagcccaGaaggtatcacagggcacata	13	6	11	11	1	1	2	1	1	0	1	1	3	1	3	3	3	2	3	3	3	4	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:65647754G>A	ENST00000307886.3	+	2	215	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CTSW_ENST00000528419.1_Missense_Mutation_p.E57K	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	57					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGAGCccagaaggtatcac	0.517																																						uc001ogc.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(169-171)Gaa>Aaa		Homo sapiens cathepsin W (CTSW), mRNA.							75	68	71					11																	65647754		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65647754G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.169G>A	11.37:g.65647754G>A	ENSP00000311300:p.Glu57Lys						p.E57K	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	1	211	+			57					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.169G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878337	0.33162	.	.	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	D;D;D	0.86562	-2.14;-2.14;-2.14	5.18	4.27	0.50696	Proteinase inhibitor I29, cathepsin propeptide (2);	0.266825	0.31519	N	0.007502	D	0.83644	0.5299	L	0.47716	1.5	0.32107	N	0.589805	P;P	0.39352	0.571;0.669	B;B	0.42959	0.403;0.355	D	0.84191	0.0445	10	0.34782	T	0.22	.	9.861	0.41114	0.0961:0.0:0.9039:0.0	.	57;57	P56202;E9PI30	CATW_HUMAN;.	K	57;57;56	ENSP00000311300:E57K;ENSP00000436568:E57K;ENSP00000434267:E56K	ENSP00000311300:E57K	E	+	1	0	CTSW	65404330	0.940000	0.31905	0.923000	0.36655	0.067000	0.16453	1.522000	0.35921	1.320000	0.45209	0.591000	0.81541	GAA		0.517	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		A	65647754	G	A	65647754	3	1	66	1	0	0	0	0	1	0	0	0	4042	943	33	3	175	3	CTSW	11	65647754	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	17380898	65647754	69358762	47	4382											
ATN1	1822	broad.mit.edu	37	chr12	7046515	7046516	+	Frame_Shift_Ins	INS	-	-	C																															cgcccaccgtgggacctgggINScccctgccacctgcggggcc																								rs200827990		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:7046515_7046516insC	ENST00000356654.4	+	5	2322_2323	c.2085_2086insC	c.(2086-2088)cccfs	p.P696fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P696fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	696					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGACCTGGGCCCCTGCCACC	0.723																																						uc001qrw.1																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2083-2088)gggcccfs		Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046515_7046516insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2089dupC	12.37:g.7046519_7046519dupC	ENSP00000349076:p.Pro696fs					ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs	p.G695fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN			4	2322_2323	+			695					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.2085_2086insC	CCDS31734.1																																																																																				0.723	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		C	7046516	-	C	7046515	7	5	66	1	0	1	1	0	0	0	0	0	1111	1190	42	0	2099	0	ATN1	12	7046515	Frame_Shift_Ins	INS	-	TCGA-06-0876-01A-01W-0424-08		7046515	126805380	48	4383											
OR6C70	390327	broad.mit.edu	37	chr12	55863703	55863703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaatctgggaatgcaagCagttgtgaatgaaatttcca	14	11	11	5	0	1	2	0	2	1	0	2	4	2	4	1	2	2	3	1	2	6	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:55863703C>A	ENST00000327335.4	-	1	219	c.220G>T	c.(220-222)Gct>Tct	p.A74S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGAATGCAAGCAGTTGTGAAT	0.398																																						uc010spn.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(220-222)Gct>Tct		Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.							56	55	55					12																	55863703		2203	4299	6502	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863703C>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.220G>T	12.37:g.55863703C>A	ENSP00000329153:p.Ala74Ser						p.A74S	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			0	220	-			74						Missense_Mutation	SNP	ENST00000327335.4	37	c.220G>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806596	0.16467	.	.	ENSG00000184954	ENST00000327335	T	0.00468	7.22	3.93	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.968998	0.08425	N	0.947769	T	0.00271	0.0008	N	0.12663	0.25	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41016	-0.9532	10	0.45353	T	0.12	.	6.2368	0.20768	0.0:0.7712:0.0:0.2288	.	74	A6NIJ9	O6C70_HUMAN	S	74	ENSP00000329153:A74S	ENSP00000329153:A74S	A	-	1	0	OR6C70	54149970	0.000000	0.05858	0.701000	0.30321	0.386000	0.30323	-0.952000	0.03881	0.998000	0.38996	0.563000	0.77884	GCT		0.398	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			A	55863703	C	A	55863703	3	1	66	1	0	0	0	0	1	0	0	0	11197	710	25	5	720	5	OR6C70	12	55863703	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	48817188	55863703	77988192	49	4384											
IFNG	3458	broad.mit.edu	37	chr12	68551725	68551725	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttcgaagtcatctcGtttctttttgttgctattga	6	20	7	8	2	3	1	1	1	2	0	5	2	3	1	0	0	2	4	0	0	2	8			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:68551725G>A	ENST00000229135.3	-	3	465	c.334C>T	c.(334-336)Cga>Tga	p.R112*	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	112					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	AAGTCATCTCGTTTCTTTTTG	0.358																																						uc001stw.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(334-336)Cga>Tga		Homo sapiens interferon, gamma (IFNG), mRNA.	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						166	163	164					12																	68551725		2203	4300	6503	SO:0001587	stop_gained	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68551725G>A		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.334C>T	12.37:g.68551725G>A	ENSP00000229135:p.Arg112*						p.R112*	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	2	460	-			112					B5BU88|Q53ZV4	Nonsense_Mutation	SNP	ENST00000229135.3	37	c.334C>T	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601797	0.46423	.	.	ENSG00000111537	ENST00000229135	.	.	.	5.38	-10.8	0.00216	.	2.682400	0.01252	N	0.008914	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.1656	3.7338	0.08503	0.1282:0.3304:0.1101:0.4313	.	.	.	.	X	112	.	.	R	-	1	2	IFNG	66837992	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.157000	0.00579	-1.965000	0.01010	-2.055000	0.00403	CGA		0.358	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			A	68551725	G	A	68551725	4	1	66	1	0	0	0	0	0	1	0	0	7548	1153	40	1	174	1	IFNG	12	68551725	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	12688022	68551725	65300170	50	4385											
PXN	5829	broad.mit.edu	37	chr12	120651689	120651689	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcgtgttgagggctgAgatatagttctccaggatgg	9	10	14	8	1	1	2	0	2	1	1	2	4	1	3	2	3	1	3	2	3	2	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:120651689A>C	ENST00000228307.7	-	11	1606	c.1465T>G	c.(1465-1467)Tca>Gca	p.S489A	PXN_ENST00000536957.1_Missense_Mutation_p.S487A|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.S455A|PXN_ENST00000458477.2_Missense_Mutation_p.S322A|PXN_ENST00000267257.7_Missense_Mutation_p.S503A|PXN_ENST00000397506.3_Missense_Mutation_p.S301A	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	489	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGAGGGCTGAGATATAGTTC	0.617																																						uc001txv.3																			0		p.S502Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1507-1509)Tca>Gca		Homo sapiens paxillin (PXN), transcript variant 3, mRNA.							38	46	44					12																	120651689		2031	4169	6200	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120651689A>C	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1465T>G	12.37:g.120651689A>C	ENSP00000228307:p.Ser489Ala					PXN_uc001txu.3_Missense_Mutation_p.S301A|PXN_uc001txx.3_Missense_Mutation_p.S322A|PXN_uc001txt.3_Missense_Mutation_p.S489A|PXN_uc001txy.3_Missense_Mutation_p.S455A|PXN_uc001txz.3_Non-coding_Transcript	p.S503A	NM_001243756	NP_001230685	P49023	PAXI_HUMAN			9	1649	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		489			LIM zinc-binding 3.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.1507T>G	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	A	33	5.265138	0.95399	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.51	5.51	0.81932	Zinc finger, LIM-type (5);	.	.	.	.	D	0.92041	0.7478	M	0.67517	2.055	0.80722	D	1	P;D;P;D	0.54397	0.909;0.958;0.875;0.966	P;P;P;D	0.64687	0.674;0.821;0.781;0.928	D	0.92462	0.5978	9	0.56958	D	0.05	.	15.627	0.76867	1.0:0.0:0.0:0.0	.	455;503;301;489	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	A	322;489;455;487;503;301;117;214	ENSP00000395536:S322A;ENSP00000228307:S489A;ENSP00000391283:S455A;ENSP00000443887:S487A;ENSP00000267257:S503A;ENSP00000380643:S301A	ENSP00000228307:S489A	S	-	1	0	PXN	119136072	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.271000	0.95698	2.101000	0.63845	0.459000	0.35465	TCA		0.617	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		C	120651689	A	C	120651689	3	2	66	1	0	0	0	0	1	0	0	0	12852	304	11	5	318	5	PXN	12	120651689	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08	52099964	120651689	13200206	51	4386											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017656	33017656	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacattctgattccatgttGatggcacagaatgggttcat	10	14	10	7	0	2	4	1	3	1	1	3	4	3	4	1	2	0	3	1	2	1	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:33017656G>A	ENST00000504114.1	-	6	1064	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.Q340*|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.Q325*|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTCCATGTTGATGGCACAGA	0.353																																						uc010abe.1																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1018-1020)Caa>Taa		Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.							38	36	36					13																	33017656		1829	4086	5915	SO:0001587	stop_gained	10443							g.chr13:33017656G>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.973C>T	13.37:g.33017656G>A	ENSP00000427477:p.Gln325*					N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*|N4BP2L2_uc021rhy.1_5'Flank	p.Q340*	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	6	1040	-		Lung SC(185;0.0262)	0					A3KME8	Nonsense_Mutation	SNP	ENST00000504114.1	37	c.1018C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.127813	0.94473	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.67	4.82	0.62117	.	1.495170	0.03704	N	0.249067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.0	7.5411	0.27740	0.2244:0.0:0.7756:0.0	.	.	.	.	X	223;252;325;325;340	.	ENSP00000350104:Q325X	Q	-	1	0	N4BP2L2;RP11-298P3.4	31915656	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	1.096000	0.30976	1.396000	0.46663	0.557000	0.71058	CAA		0.353	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		A	33017656	G	A	33017656	4	1	66	1	0	0	0	0	0	1	0	0	10112	1299	45	3	1252	3	N4BP2L2	13	33017656	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		33017656	82152222	52	4387											
COL4A1	1282	broad.mit.edu	37	chr13	110817226	110817226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttgctggcctttcgggCctggcagtccctgaagccct	4	10	11	16	1	0	1	0	1	0	0	2	1	1	1	5	3	2	2	5	3	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:110817226C>T	ENST00000375820.4	-	46	4254	c.4133G>A	c.(4132-4134)gGc>gAc	p.G1378D	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1378	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCTTTCGGGCCTGGCAGTCC	0.642																																						uc001vqw.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4132-4134)gGc>gAc		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							14	15	15					13																	110817226		2202	4298	6500	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110817226C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4133G>A	13.37:g.110817226C>T	ENSP00000364979:p.Gly1378Asp						p.G1378D	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		45	4255	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1378			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.4133G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470207	0.63625	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99353	-5.77	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97229	0.9883	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1378	P02462	CO4A1_HUMAN	D	1021;1378;1027	ENSP00000364979:G1378D	ENSP00000364973:G1021D	G	-	2	0	COL4A1	109615227	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.482000	0.81143	2.391000	0.81399	0.655000	0.94253	GGC		0.642	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110817226	C	T	110817226	3	4	66	1	0	0	0	0	1	0	0	0	3689	739	26	3	904	3	COL4A1	13	110817226	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	77799570	110817226	4352652	53	4388											
ANKDD1A	348094	broad.mit.edu	37	chr15	65209682	65209682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggacgaggaggatgCggtaggggccctcacagagg	8	6	19	8	2	1	1	1	0	0	1	1	5	1	4	1	7	2	2	1	7	1	1	rs377565868		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:65209682C>T	ENST00000380230.3	+	3	265	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A79V|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A79V|ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000319580.8_Intron|AC069368.3_ENST00000437723.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	79					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GAGGAGGATGCGGTAGGGGCC	0.642																																						uc002aoa.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(235-237)gCg>gTg		Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.		C	VAL/ALA	1,4291		0,1,2145	19	22	21		236	-1.2	0.9	15		21	0,8500		0,0,4250	no	missense	ANKDD1A	NM_182703.3	64	0,1,6395	TT,TC,CC		0.0,0.0233,0.0078	benign	79/523	65209682	1,12791	2146	4250	6396	SO:0001583	missense	348094				signal transduction			g.chr15:65209682C>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.236C>T	15.37:g.65209682C>T	ENSP00000369579:p.Ala79Val					ANKDD1A_uc002anx.1_Missense_Mutation_p.A79V|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Missense_Mutation_p.A49V	p.A79V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			2	265	+			79					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.236C>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655238	0.29425	2.33E-4	0.0	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000483400	T;T;T;T	0.70869	2.38;2.38;2.38;-0.52	4.68	-1.24	0.09435	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.49355	0.1552	L	0.45285	1.41	0.50313	D	0.999864	B;P;P	0.40875	0.008;0.731;0.473	B;B;B	0.35655	0.006;0.207;0.062	T	0.46076	-0.9217	9	0.12430	T	0.62	-2.3113	3.6463	0.08186	0.1771:0.3538:0.0:0.469	.	49;79;79	E7ET26;Q495B1;Q495B1-1	.;AKD1A_HUMAN;.	V	79;79;79;49;45	ENSP00000369579:A79V;ENSP00000350329:A79V;ENSP00000379070:A79V;ENSP00000423548:A45V	ENSP00000326203:A49V	A	+	2	0	ANKDD1A	62996735	0.000000	0.05858	0.903000	0.35520	0.509000	0.34042	-1.984000	0.01487	0.123000	0.18342	-0.378000	0.06908	GCG		0.642	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		T	65209682	C	T	65209682	3	4	66	1	0	0	0	0	1	0	0	0	624	768	27	1	246	1	ANKDD1A	15	65209682	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		65209682	37321710	54	4389											
MAN2A2	4122	broad.mit.edu	37	chr15	91454400	91454400	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccggctcactgaattccaGgatgacactcgcttaagtca	10	11	8	12	2	2	2	2	2	0	0	5	3	4	3	2	2	0	2	2	2	2	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:91454400G>A	ENST00000559717.1	+	13	2334		c.e13-1		MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000431652.2_Splice_Site|MAN2A2_ENST00000360468.3_Splice_Site			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2						cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAATTCCAGGATGACACTC	0.612																																						uc010bnz.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.e13-1		Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.							83	61	68					15																	91454400		2198	4298	6496	SO:0001630	splice_region_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454400G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1876-1G>A	15.37:g.91454400G>A						MAN2A2_uc010boa.3_Splice_Site_p.D668_splice|MAN2A2_uc002bqc.3_Splice_Site_p.D626_splice|MAN2A2_uc010uql.2_Splice_Site_p.D288_splice|MAN2A2_uc010uqm.2_Splice_Site_p.D205_splice|MAN2A2_uc010uqn.1_5'Flank	p.D626_splice	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		13	1991	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		626					A6NH12|A8K1E8|Q13754	Splice_Site	SNP	ENST00000559717.1	37	c.1876_splice	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669655	0.67814	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1178	0.93348	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN2A2	89255404	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.279000	0.78599	2.600000	0.87896	0.485000	0.47835	.		0.612	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	Intron	A	91454400	G	A	91454400	5	1	66	1	0	0	0	0	0	0	1	0	9215	1014	35	3	1921	3	MAN2A2	15	91454400	Splice_Site	SNP	G	TCGA-06-0876-01A-01W-0424-08	26244718	91454400	11076992	55	4390											
CLDN9	9080	broad.mit.edu	37	chr16	3063836	3063836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgaggccctcaagcGggagctgggggcctccctct	4	7	17	13	1	2	1	1	1	1	0	3	2	3	2	3	6	2	2	3	6	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:3063836G>A	ENST00000445369.2	+	1	1380	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	158					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCCCTCAAGCGGGAGCTGGGG	0.701																																						uc010uwo.1																			0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(472-474)cGg>cAg		Homo sapiens claudin 9 (CLDN9), mRNA.							24	27	26					16																	3063836		2198	4297	6495	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063836G>A	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.473G>A	16.37:g.3063836G>A	ENSP00000398017:p.Arg158Gln						p.R158Q	NM_020982	NP_066192	O95484	CLD9_HUMAN			0	1380	+			158						Missense_Mutation	SNP	ENST00000445369.2	37	c.473G>A	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810921	0.90707	.	.	ENSG00000213937	ENST00000445369	D	0.88509	-2.39	4.45	3.49	0.39957	.	0.000000	0.64402	D	0.000001	D	0.95749	0.8617	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.95271	0.8377	10	0.59425	D	0.04	.	9.834	0.40958	0.1008:0.0:0.8992:0.0	.	158	O95484	CLD9_HUMAN	Q	158	ENSP00000398017:R158Q	ENSP00000398017:R158Q	R	+	2	0	CLDN9	3003837	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.652000	0.98499	1.068000	0.40764	0.563000	0.77884	CGG		0.701	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		A	3063836	G	A	3063836	3	1	66	1	0	0	0	0	1	0	0	0	3492	1116	39	2	475	2	CLDN9	16	3063836	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		3063836	87290917	56	4391											
FAM86A	196483	broad.mit.edu	37	chr16	5135684	5135684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgctcttcgtagggaaaCagtttctgctcatgacgagg	10	11	12	8	2	3	1	1	1	2	0	4	3	3	2	0	2	3	4	0	2	3	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:5135684C>T	ENST00000427587.4	-	8	1010	c.942G>A	c.(940-942)ctG>ctA	p.L314L	FAM86A_ENST00000458008.4_Silent_p.L280L|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Silent_p.L253L	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	314						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527																																						uc002cyo.2																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(940-942)ctG>ctA		Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.							155	141	146					16																	5135684		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5135684C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.942G>A	16.37:g.5135684C>T						ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L	p.L314L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			7	991	-			314					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.942G>A	CCDS10529.1																																																																																				0.527	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		T	5135684	C	T	5135684	2	4	66	1	0	0	0	0	0	0	0	1	5643	465	17	3		3	FAM86A	16	5135684	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	2071848	5135684	85219069	57	4392											
FA2H	79152	broad.mit.edu	37	chr16	74748141	74748141	+	Frame_Shift_Del	DEL	C	C	-																															gagggtgtggaaacagtaatCccacaatttagtgctgatac																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:74748141delC	ENST00000219368.3	-	7	1135	c.1066delG	c.(1066-1068)gatfs	p.D356fs	FA2H_ENST00000544337.1_Frame_Shift_Del_p.D143fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	356				D -> G (in Ref. 1; BAB71632). {ECO:0000305}.	cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AAACAGTAATCCCACAATTTA	0.582																																						uc002fde.2																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(1066-1068)gatfs		Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.							103	84	90					16																	74748141		2195	4294	6489	SO:0001589	frameshift_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74748141delC	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.1066delG	16.37:g.74748141delC	ENSP00000219368:p.Asp356fs					FA2H_uc002fdd.2_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.2_Non-coding_Transcript	p.D356fs	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			6	1142	-			356	D -> G (in Ref. 1; BAB71632).				B7Z8T6|O75213|Q96DK1|Q9H1A5	Frame_Shift_Del	DEL	ENST00000219368.3	37	c.1066delG	CCDS10911.1																																																																																				0.582	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		-	74748141	C	-	74748141	7	5	66	1	0	1	0	1	0	0	0	0	5352	855	30	0	56	0	FA2H	16	74748141	Frame_Shift_Del	DEL	C	TCGA-06-0876-01A-01W-0424-08	69612457	74748141	15606612	58	4393											
AIPL1	23746	broad.mit.edu	37	chr17	6338338	6338338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccactcactcgggatccGgtgatgaagtttgggagctc	7	9	13	12	2	1	2	1	2	0	0	4	4	2	4	3	3	1	2	3	3	1	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:6338338G>A	ENST00000381129.3	-	1	167	c.87C>T	c.(85-87)acC>acT	p.T29T	AIPL1_ENST00000250087.5_Silent_p.T29T|AIPL1_ENST00000574506.1_Silent_p.T29T|AIPL1_ENST00000576307.1_Silent_p.T29T|AIPL1_ENST00000570466.1_Silent_p.T29T|AIPL1_ENST00000575265.1_Silent_p.T29T|AIPL1_ENST00000571740.1_Silent_p.T29T|AIPL1_ENST00000576776.1_Silent_p.T29T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	29					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCGGGATCCGGTGATGAAGT	0.597																																						uc002gcp.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(85-87)acC>acT		Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.							52	50	50					17																	6338338		2203	4300	6503	SO:0001819	synonymous_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6338338G>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.87C>T	17.37:g.6338338G>A						AIPL1_uc021toq.1_5'UTR|AIPL1_uc002gcq.3_Silent_p.T29T|AIPL1_uc002gcr.3_Silent_p.T29T|AIPL1_uc010clk.3_Silent_p.T29T|AIPL1_uc010cll.3_Silent_p.T29T|AIPL1_uc021tor.1_Silent_p.T29T|AIPL1_uc002gcs.3_Silent_p.T29T	p.T29T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	0	182	-			29					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	c.87C>T	CCDS11075.1																																																																																				0.597	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		A	6338338	G	A	6338338	2	1	66	1	0	0	0	0	0	0	0	1	436	1103	39	2		2	AIPL1	17	6338338	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08		6338338	74856872	59	4394											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	66	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	1239201	7577539	73617671	60	4395											
KCNJ12	3768	broad.mit.edu	37	chr17	21319710	21319710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagacctatgaggtgccCtctacgccccgctgcagtgc	8	7	10	16	2	1	2	0	1	1	1	1	2	1	2	4	1	4	2	4	1	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:21319710C>T	ENST00000583088.1	+	3	1951	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	KCNJ12_ENST00000331718.5_Silent_p.P352P	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	352					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ATGAGGTGCCCTCTACGCCCC	0.567										Prostate(3;0.18)																												uc021tss.1																			0											c.(1054-1056)ccC>ccT		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.							127	126	126					17																	21319710		2203	4300	6503	SO:0001819	synonymous_variant	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319710C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1056C>T	17.37:g.21319710C>T						KCNJ18_uc002gyv.1_Silent_p.P352P|KCNJ18_uc021tst.1_Silent_p.P352P	p.P352P	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	1426	+			352					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.1056C>T	CCDS11219.1																																																																																				0.567	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319710	C	T	21319710	2	4	66	1	0	0	0	0	0	0	0	1	8046	668	24	3		3	KCNJ12	17	21319710	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	13742171	21319710	59875500	61	4396											
C18orf26	284254	broad.mit.edu	37	chr18	52265157	52265157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatatgcttggtgaataaCaaaggatcggccaattcctc	14	11	8	8	1	0	1	0	1	0	0	3	2	1	2	2	3	2	1	2	3	6	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:52265157C>A	ENST00000321600.1	+	3	460	c.414C>A	c.(412-414)aaC>aaA	p.N138K	DYNAP_ENST00000585973.1_Missense_Mutation_p.N86K	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	138					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGTGAATAACAAAGGATCGG	0.453																																						uc002lfq.1																			0				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(412-414)aaC>aaA		Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.							145	122	130					18																	52265157		2203	4300	6503	SO:0001583	missense	284254					integral to membrane		g.chr18:52265157C>A	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 26"	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.414C>A	18.37:g.52265157C>A	ENSP00000315265:p.Asn138Lys						p.N138K	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN		Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)	2	460	+			138						Missense_Mutation	SNP	ENST00000321600.1	37	c.414C>A	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523845	0.27299	.	.	ENSG00000178690	ENST00000321600	T	0.23950	1.88	4.42	-4.9	0.03094	.	1.345620	0.04703	N	0.416261	T	0.16685	0.0401	L	0.44542	1.39	0.09310	N	1	B	0.20550	0.046	B	0.24974	0.057	T	0.25012	-1.0144	10	0.13853	T	0.58	-6.087	2.2077	0.03940	0.1268:0.3539:0.13:0.3893	.	138	Q8N1N2	CR026_HUMAN	K	138	ENSP00000315265:N138K	ENSP00000315265:N138K	N	+	3	2	C18orf26	50416155	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.772000	0.01787	-1.042000	0.03262	-1.087000	0.02190	AAC		0.453	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		A	52265157	C	A	52265157	3	1	66	1	0	0	0	0	1	0	0	0	1900	477	17	5	424	5	C18orf26	18	52265157	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		52265157	25812091	62	4397											
SERPINB12	89777	broad.mit.edu	37	chr18	61223463	61223463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataggcaaagatgatcGtcataaaaacatatttttct	17	12	7	5	1	2	3	1	1	1	2	3	4	2	3	0	1	1	1	0	1	6	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:61223463G>A	ENST00000269491.1	+	1	71	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R24H	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	24					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAGATGATCGTCATAAAAAC	0.393																																						uc010xeo.2																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(70-72)cGt>cAt		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.							235	229	231					18																	61223463		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61223463G>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.71G>A	18.37:g.61223463G>A	ENSP00000269491:p.Arg24His					SERPINB12_uc010xen.2_Missense_Mutation_p.R24H	p.R24H	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			0	71	+			24					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.71G>A	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	3.013	-0.203522	0.06180	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84516	-1.86;-1.86	5.4	-10.1	0.00402	Serpin domain (3);	3.522370	0.00357	N	0.000020	T	0.69726	0.3143	N	0.16743	0.435	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.001	T	0.58081	-0.7699	10	0.48119	T	0.1	.	6.9248	0.24410	0.6054:0.2027:0.0908:0.1011	.	24;24	Q3SYB4;Q96P63	.;SPB12_HUMAN	H	24	ENSP00000269491:R24H;ENSP00000372218:R24H	ENSP00000269491:R24H	R	+	2	0	SERPINB12	59374443	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.643000	0.00204	-1.752000	0.01325	-1.084000	0.02203	CGT		0.393	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		A	61223463	G	A	61223463	3	1	66	1	0	0	0	0	1	0	0	0	14099	1145	40	1	73	1	SERPINB12	18	61223463	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	8958306	61223463	16853785	63	4398											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661023	8661023	+	Missense_Mutation	SNP	A	A	G																															atgggttggtcttcatggtaAtgtgggcagccatgagcttg																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661023A>G	ENST00000597188.1	-	11	1541	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.I424T	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	424	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCATGGTAATGTGGGCAGC	0.592																																						uc002mkj.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1270-1272)aTt>aCt		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.							113	106	108					19																	8661023		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661023A>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1271T>C	19.37:g.8661023A>G	ENSP00000471851:p.Ile424Thr					ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	p.I424T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			10	1545	-			424			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1271T>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914795	0.72983	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.07114	3.22	4.27	4.27	0.50696	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.063909	0.64402	D	0.000011	T	0.16300	0.0392	L	0.37507	1.11	0.58432	D	0.999999	B;D	0.53885	0.452;0.963	B;P	0.59825	0.378;0.864	T	0.00912	-1.1517	10	0.87932	D	0	.	12.7308	0.57197	1.0:0.0:0.0:0.0	.	178;424	Q59FE5;Q9H324	.;ATS10_HUMAN	T	424;178	ENSP00000270328:I424T	ENSP00000270328:I424T	I	-	2	0	ADAMTS10	8567023	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.729000	0.91490	1.790000	0.52503	0.260000	0.18958	ATT		0.592	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		G	8661023	A	G	8661023	3	3	66	1	0	0	0	0	1	0	0	0	256	101	4	4	2104	4	ADAMTS10	19	8661023	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08		8661023	50467960	64	4399	5	2									
ADAMTS10	81794	broad.mit.edu	37	chr19	8661031	8661031	+	Silent	SNP	A	A	G																															gtcttcatggtaatgtgggcAgccatgagcttggctgggtc																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661031A>G	ENST00000597188.1	-	11	1533	c.1263T>C	c.(1261-1263)gcT>gcC	p.A421A	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.A421A	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	421	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAATGTGGGCAGCCATGAGCT	0.592																																						uc002mkj.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1261-1263)gcT>gcC		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.							113	107	109					19																	8661031		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661031A>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1263T>C	19.37:g.8661031A>G						ADAMTS10_uc002mkk.1_Silent_p.A53A	p.A421A	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			10	1537	-			421			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.1263T>C	CCDS12206.1																																																																																				0.592	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		G	8661031	A	G	8661031	2	3	66	1	0	0	0	0	0	0	0	1	256	175	7	4		4	ADAMTS10	19	8661031	Silent	SNP	A	TCGA-06-0876-01A-01W-0424-08	8	8661031	50467952	65	4400	5	2									
KLF1	10661	broad.mit.edu	37	chr19	12996209	12996209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggtgcgcgcacgtgtGcgctgcctgcctcttgcgcg	2	8	15	16	7	1	0	0	0	1	0	1	0	1	0	3	1	5	2	3	1	0	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:12996209G>A	ENST00000264834.4	-	2	875	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	279					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCACGTGTGCGCTGCCTGC	0.692																																						uc002mvo.3																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(835-837)Cac>Tac		Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.							13	13	13					19																	12996209		2195	4291	6486	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12996209G>A	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.835C>T	19.37:g.12996209G>A	ENSP00000264834:p.His279Tyr						p.H279Y	NM_006563	NP_006554	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	1	898	-		Hepatocellular(1079;0.137)	279					Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.835C>T	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075915	0.94000	.	.	ENSG00000105610	ENST00000264834	D	0.96716	-4.1	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000366	D	0.97854	0.9295	M	0.81614	2.55	0.50313	D	0.99986	D	0.89917	1.0	D	0.91635	0.999	D	0.98225	1.0480	10	0.59425	D	0.04	.	14.4314	0.67254	0.0:0.0:1.0:0.0	.	279	Q13351	KLF1_HUMAN	Y	279	ENSP00000264834:H279Y	ENSP00000264834:H279Y	H	-	1	0	KLF1	12857209	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	7.674000	0.83992	2.257000	0.74773	0.561000	0.74099	CAC		0.692	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		A	12996209	G	A	12996209	3	1	66	1	0	0	0	0	1	0	0	0	8337	1319	46	3	261	3	KLF1	19	12996209	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	4335178	12996209	46132774	66	4401											
ZNF208	7757	broad.mit.edu	37	chr19	22155610	22155610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctctccagtatgAattaccttatgtttagtaag	10	17	8	6	0	1	1	0	1	1	0	3	1	2	1	2	1	1	4	2	1	7	8			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:22155610A>G	ENST00000397126.4	-	4	2374	c.2226T>C	c.(2224-2226)atT>atC	p.I742I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	742					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.363																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2224-2226)atT>atC		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							45	48	47					19																	22155610		2066	4224	6290	SO:0001819	synonymous_variant	7757							g.chr19:22155610A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2226T>C	19.37:g.22155610A>G						ZNF208_uc002nqo.1_Intron	p.I742I	NM_007153	NP_009084					3	2375	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2226T>C	CCDS54240.1																																																																																				0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22155610	A	G	22155610	2	3	66	1	0	0	0	0	0	0	0	1	17763	242	9	4		4	ZNF208	19	22155610	Silent	SNP	A	TCGA-06-0876-01A-01W-0424-08	9159401	22155610	36973373	67	4402											
RAB4B	53916	broad.mit.edu	37	chr19	41289974	41289974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcctcccgctttgcccagGagaatggtgagggctgtgtc	6	9	15	11	1	0	2	0	1	0	1	2	3	1	2	3	4	1	2	3	4	1	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:41289974G>A	ENST00000594800.1	+	5	584	c.424G>A	c.(424-426)Gag>Aag	p.E142K	MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.E142K|RAB4B_ENST00000357052.2_Missense_Mutation_p.E142K|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	142					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTTGCCCAGGAGAATGGTGA	0.627																																						uc002opd.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(424-426)Gag>Aag		Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.							36	32	34					19																	41289974		2203	4300	6503	SO:0001583	missense	53916				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:41289974G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.424G>A	19.37:g.41289974G>A	ENSP00000470246:p.Glu142Lys					RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.E168K	p.E142K	NM_016154	NP_057238	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	581	+			142					P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.424G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237597	0.58886	.	.	ENSG00000167578	ENST00000357052	T	0.76839	-1.05	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.77611	0.4156	N	0.20986	0.625	0.80722	D	1	D;B	0.64830	0.994;0.216	P;B	0.57548	0.823;0.189	T	0.78529	-0.2169	10	0.40728	T	0.16	.	16.8338	0.85951	0.0:0.0:1.0:0.0	.	177;142	P61018-2;P61018	.;RAB4B_HUMAN	K	142	ENSP00000349560:E142K	ENSP00000349560:E142K	E	+	1	0	RAB4B	45981814	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	9.728000	0.98792	2.259000	0.74868	0.393000	0.25936	GAG		0.627	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		A	41289974	G	A	41289974	3	1	66	1	0	0	0	0	1	0	0	0	12947	1175	41	3	442	3	RAB4B	19	41289974	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	19134364	41289974	17839009	68	4403											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629378	51629378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtcttccaaggagaCggcacaggtaggatggagct	11	8	14	8	1	1	2	0	1	1	1	2	5	2	4	1	5	1	3	1	5	2	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51629378C>T	ENST00000250360.3	+	3	808	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_ENST00000440804.3_Silent_p.D247D	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597																																						uc010yct.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(739-741)gaC>gaT		Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.							103	91	95					19																	51629378		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629378C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.741C>T	19.37:g.51629378C>T						SIGLEC9_uc002pvu.3_Silent_p.D247D	p.D247D	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	836	+		all_neural(266;0.0529)	247			Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.741C>T	CCDS12825.1																																																																																				0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		T	51629378	C	T	51629378	2	4	66	1	0	0	0	0	0	0	0	1	14315	535	19	1		1	SIGLEC9	19	51629378	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	10339404	51629378	7499605	69	4404											
CD33	945	broad.mit.edu	37	chr19	51728757	51728757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccctgagcatcgtagaCgccaggaggagggataatgg	10	7	15	9	2	0	2	0	1	0	1	2	5	1	5	2	4	2	3	2	4	2	2	rs141721735		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51728757C>T	ENST00000262262.4	+	2	342	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.D107D|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	107	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCATCGTAGACGCCAGGAGGA	0.507																																						uc002pwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(319-321)gaC>gaT		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)	C	,,	1,4405		0,1,2202	56	59	58		,321,321	-6.3	0	19	dbSNP_134	58	1,8599		0,1,4299	no	intron,coding-synonymous,coding-synonymous	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	,107/311,107/365	51728757	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728757C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.321C>T	19.37:g.51728757C>T						CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.D107D	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	1	361	+		all_neural(266;0.0199)	107			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	c.321C>T	CCDS33084.1																																																																																				0.507	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		T	51728757	C	T	51728757	2	4	66	1	0	0	0	0	0	0	0	1	3005	535	19	1		1	CD33	19	51728757	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	99379	51728757	7400226	70	4405											
ZNF841	284371	broad.mit.edu	37	chr19	52568811	52568811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggcctgagcgataaCggaagaccttgccacattca	11	7	12	11	3	1	2	1	1	0	1	1	5	1	3	3	2	4	0	3	2	2	3	rs375361341		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:52568811C>T	ENST00000426391.2	-	5	2527	c.1976G>A	c.(1975-1977)cGt>cAt	p.R659H	ZNF841_ENST00000389534.4_Missense_Mutation_p.R775H|ZNF841_ENST00000359973.2_Missense_Mutation_p.R351H|ZNF841_ENST00000594295.1_Missense_Mutation_p.R775H|ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAGCGATAACGGAAGACCTT	0.438																																						uc010ydh.1																			0		p.R775C(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(2323-2325)cGt>cAt		Homo sapiens zinc finger protein 841 (ZNF841), mRNA.		C	HIS/ARG	1,1383		0,1,691	51	47	48		2324	-4	0	19		48	0,3182		0,0,1591	no	missense	ZNF841	NM_001136499.1	29	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	probably-damaging	775/925	52568811	1,4565	692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568811C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1976G>A	19.37:g.52568811C>T	ENSP00000415453:p.Arg659His					ZNF841_uc002pyl.1_Missense_Mutation_p.R659H	p.R775H	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			6	2784	-			659					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.2324G>A		.	.	.	.	.	.	.	.	.	.	C	13.95	2.390400	0.42410	7.23E-4	0.0	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.18016	2.24;2.24;2.24	2.02	-4.04	0.04010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14960	0.0361	L	0.27053	0.805	0.09310	N	1	D;B;D	0.71674	0.995;0.162;0.998	P;B;P	0.56788	0.784;0.012;0.806	T	0.05920	-1.0856	9	0.56958	D	0.05	.	0.3786	0.00391	0.2927:0.1912:0.2908:0.2252	.	775;351;659	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	H	775;659;351	ENSP00000374185:R775H;ENSP00000415453:R659H;ENSP00000353060:R351H	ENSP00000353060:R351H	R	-	2	0	ZNF841	57260623	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-6.477000	0.00064	-1.491000	0.01840	0.313000	0.20887	CGT		0.438	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		T	52568811	C	T	52568811	3	4	66	1	0	0	0	0	1	0	0	0	18186	536	19	1	454	1	ZNF841	19	52568811	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	840054	52568811	6560172	71	4406											
LPIN3	64900	broad.mit.edu	37	chr20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcgctgagagtgagctatCcctgccggaaaagctgaggc	10	6	15	10	2	0	3	0	3	0	1	1	5	1	4	2	3	3	3	2	3	3	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:39977494C>T	ENST00000373257.3	+	4	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	175					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567																																						uc010ggh.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(523-525)tCc>tTc		Homo sapiens lipin 3 (LPIN3), mRNA.							33	32	32					20																	39977494		2203	4299	6502	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977494C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.524C>T	20.37:g.39977494C>T	ENSP00000362354:p.Ser175Phe					LPIN3_uc002xjx.3_Missense_Mutation_p.S175F|LPIN3_uc010zwf.2_Non-coding_Transcript	p.S175F	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			3	615	+		Myeloproliferative disorder(115;0.000739)	175					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.524C>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841275	0.16891	.	.	ENSG00000132793	ENST00000373257	T	0.81415	-1.49	4.64	3.7	0.42460	.	1.070240	0.07226	N	0.861757	T	0.72053	0.3413	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.594;0.877	B;B	0.41723	0.308;0.365	T	0.61860	-0.6976	9	.	.	.	-17.252	6.5012	0.22170	0.0:0.8335:0.0:0.1665	.	175;175	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	F	175	ENSP00000362354:S175F	.	S	+	2	0	LPIN3	39410908	0.001000	0.12720	0.249000	0.24280	0.031000	0.12232	1.159000	0.31749	2.580000	0.87095	0.655000	0.94253	TCC		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39977494	C	T	39977494	3	4	66	1	0	0	0	0	1	0	0	0	8920	855	30	3	534	3	LPIN3	20	39977494	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		39977494	23048026	72	4407											
SEMG1	6406	broad.mit.edu	37	chr20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaagatgtatcccaaCgcagtatttatagccaaact	15	10	7	9	1	0	2	0	0	0	2	1	2	1	2	2	0	4	4	2	0	7	5	rs199672858	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:43837052C>T	ENST00000372781.3	+	2	1171	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													A|||	2	0.000399361	8e-04	0	5008	,	,		22478	0		0.001	False		,,,				2504	0					uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							77	71	73					20																	43837052		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837052C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>T	20.37:g.43837052C>T	ENSP00000361867:p.Arg372Cys					SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.44	1.640642	0.29157	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06528	3.29;3.29	0.951	-1.9	0.07665	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.27498	0.18;0.109	B;B	0.15052	0.01;0.012	T	0.39603	-0.9606	9	0.72032	D	0.01	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	C	312;372	ENSP00000244069:R312C;ENSP00000361867:R372C	ENSP00000244069:R312C	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		T	43837052	C	T	43837052	3	4	66	1	0	0	0	0	1	0	0	0	14044	536	19	1	1120	1	SEMG1	20	43837052	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	3859558	43837052	19188468	73	4408											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605879	47605879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagagatggagcaaatggCtaaaacagccaaagctctga	16	7	10	8	0	1	2	0	1	1	1	1	4	1	3	1	2	4	3	1	2	5	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47605879C>A	ENST00000371917.4	+	19	2591	c.2591C>A	c.(2590-2592)gCt>gAt	p.A864D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	864					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGCAAATGGCTAAAACAGCC	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2590-2592)gCt>gAt		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							68	66	67					20																	47605879		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605879C>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2591C>A	20.37:g.47605879C>A	ENSP00000360985:p.Ala864Asp					ARFGEF2_uc010zyf.2_Missense_Mutation_p.A157D	p.A864D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		18	2743	+			864					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2591C>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707434	0.89018	.	.	ENSG00000124198	ENST00000371917	T	0.50001	0.76	5.6	4.63	0.57726	Armadillo-type fold (1);	0.057843	0.64402	D	0.000004	T	0.68054	0.2959	M	0.83118	2.625	0.80722	D	1	D	0.62365	0.991	P	0.59288	0.855	T	0.75331	-0.3355	10	0.72032	D	0.01	.	16.6039	0.84823	0.0:0.8696:0.1304:0.0	.	864	Q9Y6D5	BIG2_HUMAN	D	864	ENSP00000360985:A864D	ENSP00000360985:A864D	A	+	2	0	ARFGEF2	47039286	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.776000	0.85560	1.432000	0.47375	0.563000	0.77884	GCT		0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47605879	C	A	47605879	3	1	66	1	0	0	0	0	1	0	0	0	853	797	28	5	2665	5	ARFGEF2	20	47605879	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	3768827	47605879	15419641	74	4409											
ZNFX1	57169	broad.mit.edu	37	chr20	47865786	47865786	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcagagccggagcaTggggcctatttgattgttct	7	11	14	9	1	1	2	0	1	1	1	1	3	1	3	2	4	3	4	2	4	1	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47865786T>G	ENST00000396105.1	-	14	4021	c.3775A>C	c.(3775-3777)Atg>Ctg	p.M1259L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M1259L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1259			M -> I (in dbSNP:rs6512577).				metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCCGGAGCATGGGGCCTATT	0.527																																						uc002xui.3																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3775-3777)Atg>Ctg		Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.							72	71	71					20																	47865786		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865786T>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3775A>C	20.37:g.47865786T>G	ENSP00000379412:p.Met1259Leu						p.M1259L	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		13	4022	-			1259		M -> I (in dbSNP:rs6512577).			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3775A>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832530	0.02713	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.85861	-2.04;-2.04	6.17	-3.81	0.04294	.	0.790063	0.12288	N	0.482275	T	0.63450	0.2512	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52902	-0.8513	10	0.10902	T	0.67	-0.0137	9.1026	0.36678	0.3029:0.5482:0.0:0.1489	.	1259	Q9P2E3	ZNFX1_HUMAN	L	1259	ENSP00000360817:M1259L;ENSP00000379412:M1259L	ENSP00000360817:M1259L	M	-	1	0	ZNFX1	47299193	0.009000	0.17119	0.000000	0.03702	0.231000	0.25187	0.409000	0.21082	-0.591000	0.05859	-0.250000	0.11733	ATG		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		G	47865786	T	G	47865786	3	3	66	1	0	0	0	0	1	0	0	0	18202	1464	51	5	1985	5	ZNFX1	20	47865786	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	259907	47865786	15159734	75	4410											
MX2	4600	broad.mit.edu	37	chr21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgtttaatcaggacatcGaaaagttagtagaaggagaa	18	9	11	3	1	1	3	1	0	0	3	2	6	1	4	0	2	0	3	0	2	7	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:42771150G>A	ENST00000330714.3	+	10	1484	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	434					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1300-1302)Gaa>Aaa		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							76	79	78					21																	42771150		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42771150G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1300G>A	21.37:g.42771150G>A	ENSP00000333657:p.Glu434Lys					MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	p.E434K	NM_002463	NP_002454	P20592	MX2_HUMAN			9	1404	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	434					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1300G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	8.948	0.967428	0.18659	.	.	ENSG00000183486	ENST00000330714	T	0.72615	-0.67	3.96	0.626	0.17670	Dynamin central domain (1);	0.841727	0.10738	N	0.639810	T	0.49525	0.1562	L	0.38838	1.175	0.09310	N	1	P	0.35600	0.511	B	0.36534	0.227	T	0.37478	-0.9704	10	0.06625	T	0.88	-5.8608	0.5711	0.00696	0.2395:0.1957:0.3645:0.2003	.	434	P20592	MX2_HUMAN	K	434	ENSP00000333657:E434K	ENSP00000333657:E434K	E	+	1	0	MX2	41693020	0.009000	0.17119	0.001000	0.08648	0.945000	0.59286	0.476000	0.22180	0.364000	0.24374	0.491000	0.48974	GAA		0.373	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		A	42771150	G	A	42771150	3	1	66	1	0	0	0	0	1	0	0	0	9998	1059	37	2	1334	2	MX2	21	42771150	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		42771150	5358745	76	4411											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032419	46032419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaagcccgtgtgctgCgtgtccatctgctctggagc	4	11	13	13	2	2	0	0	0	2	0	3	1	3	1	2	1	7	4	2	1	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:46032419C>T	ENST00000334662.2	+	1	424	c.402C>T	c.(400-402)tgC>tgT	p.C134C	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	134	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCGTGTGCTGCGTGTCCATCT	0.627																																						uc002zfo.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(400-402)tgC>tgT		Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.							176	139	152					21																	46032419		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032419C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.402C>T	21.37:g.46032419C>T						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.C134C	NM_198695	NP_941968	P60410	KR108_HUMAN			0	424	+			134			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.402C>T	CCDS13713.1																																																																																				0.627	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		T	46032419	C	T	46032419	2	4	66	1	0	0	0	0	0	0	0	1	8515	776	27	1		1	KRTAP10-8	21	46032419	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	3261269	46032419	2097476	77	4412											
PI4KA	5297	broad.mit.edu	37	chr22	21174060	21174060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccttcaagctcttccaGgacacggagggaatgaggag	13	6	12	10	1	2	1	1	1	1	0	3	5	3	5	2	4	2	1	2	4	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr22:21174060G>C	ENST00000572273.1	-	6	714	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	PI4KA_ENST00000255882.6_Missense_Mutation_p.L220V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	162					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCTCTTCCAGGACACGGAGG	0.522																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.4																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(484-486)Ctg>Gtg		Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.							188	166	174					22																	21174060		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21174060G>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.484C>G	22.37:g.21174060G>C	ENSP00000458238:p.Leu162Val					PI4KA_uc010gsq.2_Missense_Mutation_p.L248V	p.L162V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	745	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	162					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.484C>G		.	.	.	.	.	.	.	.	.	.	G	11.44	1.638859	0.29157	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.89	4.89	0.63831	.	0.233607	0.44688	D	0.000429	T	0.39627	0.1085	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.16335	-1.0406	9	0.26408	T	0.33	-7.433	18.6172	0.91306	0.0:0.0:1.0:0.0	.	220;162	D3DX33;P42356	.;PI4KA_HUMAN	V	162	.	ENSP00000255882:L162V	L	-	1	2	PI4KA	19504060	1.000000	0.71417	0.637000	0.29366	0.807000	0.45602	2.351000	0.44071	2.702000	0.92279	0.557000	0.71058	CTG		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		C	21174060	G	C	21174060	3	2	66	1	0	0	0	0	1	0	0	0	11873	991	35	5	5850	5	PI4KA	22	21174060	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		21174060	30130506	78	4413											
ARSF	416	broad.mit.edu	37	chrX	3021960	3021960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggaagtctccctcaGgacaggtgatgtcatataaa	13	9	11	8	0	4	1	3	1	1	0	5	4	4	4	1	4	0	0	1	4	4	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:3021960G>A	ENST00000381127.1	+	9	1481	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ARSF_ENST00000537104.1_Silent_p.Q420Q|ARSF_ENST00000359361.2_Silent_p.Q420Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	420					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCTCCCTCAGGACAGGTGAT	0.448																																						uc022brz.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(1258-1260)caG>caA		Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.							81	76	78					X																	3021960		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021960G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1260G>A	X.37:g.3021960G>A						ARSF_uc004cre.2_Silent_p.Q420Q|ARSF_uc004crf.2_Silent_p.Q420Q	p.Q420Q	NM_001201538	NP_001188467	P54793	ARSF_HUMAN			8	1396	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	420					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1260G>A	CCDS14123.1																																																																																				0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			A	3021960	G	A	3021960	2	1	66	1	0	0	0	0	0	0	0	1	991	991	35	3		3	ARSF	23	3021960	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08		3021960	152248600	79	4414											
BCOR	54880	broad.mit.edu	37	chrX	39930272	39930272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcctcctccagggtgacCgactttggctttttgtcctg	4	14	11	12	1	0	1	0	1	0	0	3	2	3	1	5	3	0	1	5	3	0	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:39930272C>T	ENST00000378444.4	-	6	3420	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	BCOR_ENST00000378463.1_5'Flank|BCOR_ENST00000378455.4_Silent_p.S1046S|BCOR_ENST00000397354.3_Silent_p.S1064S|BCOR_ENST00000342274.4_Silent_p.S1064S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1064					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAGGGTGACCGACTTTGGCT	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3190-3192)tcG>tcA		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							209	159	176					X																	39930272		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39930272C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3192G>A	X.37:g.39930272C>T						BCOR_uc004dep.4_Silent_p.S1064S|BCOR_uc004deo.4_Silent_p.S1046S|BCOR_uc004dem.4_Silent_p.S1064S	p.S1064S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			5	3484	-			1064					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.3192G>A	CCDS48093.1																																																																																				0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39930272	C	T	39930272	2	4	66	1	0	0	0	0	0	0	0	1	1386	639	23	2		2	BCOR	23	39930272	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	36908312	39930272	115340288	80	4415											
SLC38A5	92745	broad.mit.edu	37	chrX	48319395	48319395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaggtgaggtatccaaagGttgctgtgagcccatacatg	12	9	13	7	0	0	3	0	2	0	1	1	3	1	3	2	3	3	3	2	3	4	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:48319395G>T	ENST00000376876.3	-	12	1772	c.929C>A	c.(928-930)aCc>aAc	p.T310N	SLC38A5_ENST00000317669.5_Missense_Mutation_p.T310N|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Missense_Mutation_p.T259N			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	310					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTATCCAAAGGTTGCTGTGAG	0.612																																						uc010nid.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(928-930)aCc>aAc		Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.							90	52	65					X																	48319395		2203	4299	6502	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48319395G>T	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.929C>A	X.37:g.48319395G>T	ENSP00000366073:p.Thr310Asn					SLC38A5_uc004djk.4_Missense_Mutation_p.T259N	p.T310N	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			12	1107	-			310					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.929C>A	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	16.11	3.029933	0.54790	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02345	4.33;4.33;4.33	4.24	3.36	0.38483	.	0.472460	0.21311	N	0.076633	T	0.03783	0.0107	L	0.34521	1.04	0.28292	N	0.923481	P	0.44195	0.828	P	0.47891	0.56	T	0.22068	-1.0227	10	0.87932	D	0	.	5.2154	0.15340	0.2554:0.0:0.7446:0.0	.	310	Q8WUX1	S38A5_HUMAN	N	310;259;310	ENSP00000366073:T310N;ENSP00000366071:T259N;ENSP00000313740:T310N	ENSP00000313740:T310N	T	-	2	0	SLC38A5	48204339	1.000000	0.71417	0.873000	0.34254	0.462000	0.32619	5.923000	0.70045	1.692000	0.51112	0.436000	0.28706	ACC		0.612	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		T	48319395	G	T	48319395	3	4	66	1	0	0	0	0	1	0	0	0	14607	1261	44	5	509	5	SLC38A5	23	48319395	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	8389123	48319395	106951165	81	4416											
HUWE1	10075	broad.mit.edu	37	chrX	53573431	53573431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtataacccagatggcgGgctccattcagtagcagctt	10	9	12	10	1	1	1	1	0	0	1	2	1	2	1	2	3	3	5	2	3	3	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:53573431G>A	ENST00000342160.3	-	69	11338	c.10881C>T	c.(10879-10881)gcC>gcT	p.A3627A	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Silent_p.A3627A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3627					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGATGGCGGGCTCCATTCA	0.498																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10879-10881)gcC>gcT		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							54	49	50					X																	53573431		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53573431G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10881C>T	X.37:g.53573431G>A						HUWE1_uc004dsn.3_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	p.A3627A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			69	11283	-			3627					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.10881C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223721	0.22457	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.57	-3.78	0.04333	.	.	.	.	.	T	0.37320	0.0999	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	4	.	.	.	.	0.7637	0.01011	0.2609:0.2967:0.2381:0.2043	.	.	.	.	S	2661;465	.	.	P	-	1	0	HUWE1	53590156	0.848000	0.29623	0.916000	0.36221	0.994000	0.84299	-0.177000	0.09796	-1.043000	0.03258	-0.191000	0.12829	CCG		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53573431	G	A	53573431	2	1	66	1	0	0	0	0	0	0	0	1	7461	1219	43	3		3	HUWE1	23	53573431	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	5254036	53573431	101697129	82	4417											
ARMCX2	9823	broad.mit.edu	37	chrX	100911799	100911799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgagccccaggggttGctttcttggcagctgatgtt	5	13	14	9	0	1	2	0	2	1	0	1	2	1	2	2	3	3	5	2	3	0	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:100911799G>A	ENST00000328766.5	-	5	1229	c.776C>T	c.(775-777)gCa>gTa	p.A259V	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A259V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A259V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	259	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCAGGGGTTGCTTTCTTGGC	0.597																																						uc010nnt.2																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(775-777)gCa>gTa		Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.							79	76	77					X																	100911799		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911799G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.776C>T	X.37:g.100911799G>A	ENSP00000331662:p.Ala259Val					ARMCX2_uc004eid.2_Missense_Mutation_p.A259V|ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc022caq.1_Missense_Mutation_p.A259V	p.A259V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			4	1585	-			259			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.776C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179787	0.21787	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.43688	0.94;0.94;0.94	4.43	3.47	0.39725	.	0.188682	0.26153	N	0.026036	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.34103	0.437	B	0.24701	0.055	T	0.21724	-1.0237	10	0.54805	T	0.06	-2.4823	10.1396	0.42728	0.0:0.0:0.8002:0.1997	.	259	Q7L311	ARMX2_HUMAN	V	259	ENSP00000331662:A259V;ENSP00000328631:A259V;ENSP00000349281:A259V	ENSP00000331662:A259V	A	-	2	0	ARMCX2	100798455	0.967000	0.33354	0.018000	0.16275	0.040000	0.13550	2.912000	0.48782	2.139000	0.66308	0.544000	0.68410	GCA		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		A	100911799	G	A	100911799	3	1	66	1	0	0	0	0	1	0	0	0	960	1319	46	3	1126	3	ARMCX2	23	100911799	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	47338368	100911799	54358761	83	4418											
NRK	203447	broad.mit.edu	37	chrX	105153109	105153109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcacctaggcttctgcaGgtacagtcccaggtatccaa	10	8	11	12	0	1	0	0	0	1	0	3	0	3	0	3	4	2	5	3	4	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:105153109G>A	ENST00000243300.9	+	13	1779	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	NRK_ENST00000428173.2_Silent_p.Q493Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	492	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCTTCTGCAGGTACAGTCCC	0.537										HNSCC(51;0.14)																												uc004emd.3																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1474-1476)caG>caA		Homo sapiens Nik related kinase (NRK), mRNA.							52	53	53					X																	105153109		2026	4176	6202	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153109G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1476G>A	X.37:g.105153109G>A		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.Q160Q	p.Q492Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			12	1779	+			492			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.1476G>A																																																																																					0.537	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105153109	G	A	105153109	2	1	66	1	0	0	0	0	0	0	0	1	10655	991	35	3		3	NRK	23	105153109	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	4241310	105153109	50117451	84	4419											
DCX	1641	broad.mit.edu	37	chrX	110644367	110644367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcttcaccccactgcGgatgatggtaaccagcttgg	8	8	12	13	2	1	1	1	1	0	0	1	3	1	2	4	4	3	3	4	4	1	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:110644367G>A	ENST00000338081.3	-	3	970	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DCX_ENST00000356220.3_Missense_Mutation_p.R186C|DCX_ENST00000371993.2_Missense_Mutation_p.R186C|DCX_ENST00000356915.2_Missense_Mutation_p.R186C|DCX_ENST00000488120.1_Missense_Mutation_p.R186C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	267	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> C (in SBHX). {ECO:0000269|PubMed:10369164, ECO:0000269|PubMed:11175293, ECO:0000269|PubMed:9668176}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCACTGCGGATGATGGTA	0.537																																						uc004epd.3																			0		p.R267L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM980528	DCX	M		c.(799-801)Cgc>Tgc		Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.							120	100	107					X																	110644367		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644367G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.799C>T	X.37:g.110644367G>A	ENSP00000337697:p.Arg267Cys					DCX_uc011msv.2_Missense_Mutation_p.R267C|DCX_uc004epe.3_Missense_Mutation_p.R186C|DCX_uc004epf.3_Missense_Mutation_p.R186C|DCX_uc004epg.3_Missense_Mutation_p.R186C	p.R267C	NM_000555	NP_835366	O43602	DCX_HUMAN			2	971	-			267		R -> C (in SBHX).	Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.799C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349072	0.82132	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	4.61	3.72	0.42706	Doublecortin domain (4);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.78314	0.991;0.558	D	0.97424	1.0011	10	0.66056	D	0.02	.	13.7182	0.62710	0.0:0.0:0.8443:0.1556	.	255;267	B4DM53;O43602	.;DCX_HUMAN	C	186;186;267;186;186	ENSP00000349385:R186C;ENSP00000361061:R186C;ENSP00000337697:R267C;ENSP00000348553:R186C;ENSP00000419861:R186C	ENSP00000337697:R267C	R	-	1	0	DCX	110531023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.605000	0.67634	0.971000	0.38288	0.513000	0.50165	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		A	110644367	G	A	110644367	3	1	66	1	0	0	0	0	1	0	0	0	4318	1116	39	2	561	2	DCX	23	110644367	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	5491258	110644367	44626193	85	4420											
ANKRD58	347454	broad.mit.edu	37	chrX	118893488	118893488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagagtggcagcgtcGcggaccaaggcgaaggacac	12	2	17	10	4	0	1	0	0	0	1	1	5	0	3	1	5	2	2	1	5	2	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:118893488G>A	ENST00000343905.3	+	1	913	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	286																	TGGCAGCGTCGCGGACCAAGG	0.642																																						uc010nql.3																			0											c.(856-858)tcG>tcA		Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.							11	15	14					X																	118893488		2103	4127	6230	SO:0001819	synonymous_variant	347454							g.chrX:118893488G>A		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.858G>A	X.37:g.118893488G>A							p.S286S	NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN			0	913	+			286						Silent	SNP	ENST00000343905.3	37	c.858G>A	CCDS43984.1																																																																																				0.642	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		A	118893488	G	A	118893488	2	1	66	1	0	0	0	0	0	0	0	1	684	1074	38	1		1	ANKRD58	23	118893488	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	8249121	118893488	36377072	86	4421											
CNGA2	1260	broad.mit.edu	37	chrX	150912487	150912487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggcagtggtggctgaTgatggtgtgactcagtatgc	9	11	15	6	0	1	3	1	3	0	0	1	3	1	3	0	4	2	3	0	4	2	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:150912487T>A	ENST00000329903.4	+	6	1545	c.1512T>A	c.(1510-1512)gaT>gaA	p.D504E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	504					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGCTGATGATGGTGTGA	0.512																																						uc004fey.1																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1510-1512)gaT>gaA		Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.							160	133	142					X																	150912487		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912487T>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1512T>A	X.37:g.150912487T>A	ENSP00000328478:p.Asp504Glu						p.D504E	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			6	1736	+	Acute lymphoblastic leukemia(192;6.56e-05)		504					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1512T>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	T	9.182	1.023941	0.19433	.	.	ENSG00000183862	ENST00000329903	D	0.92348	-3.02	5.33	4.16	0.48862	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	N	0.25286	0.73	0.51233	D	0.999913	B	0.17038	0.02	B	0.26310	0.068	T	0.76013	-0.3114	10	0.45353	T	0.12	.	5.0078	0.14297	0.0:0.097:0.1819:0.7211	.	504	Q16280	CNGA2_HUMAN	E	504	ENSP00000328478:D504E	ENSP00000328478:D504E	D	+	3	2	CNGA2	150663143	0.999000	0.42202	1.000000	0.80357	0.816000	0.46133	0.559000	0.23485	0.677000	0.31305	0.430000	0.28490	GAT		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912487	T	A	150912487	3	1	66	1	0	0	0	0	1	0	0	0	3597	1461	51	5	1534	5	CNGA2	23	150912487	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	32018999	150912487	4358073	87	4422											
NPHP4	261734	broad.mit.edu	37	chr1	5965822	5965822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccaggtgggagatacCggcctccaacgggaactcct	8	7	13	13	2	0	1	0	0	0	1	3	3	3	2	5	5	3	1	5	5	3	2	rs376353686		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:5965822C>T	ENST00000378156.4	-	14	1898	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	545					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGAGATACCGGCCTCCAAC	0.582													C|||	1	0.000199681	0	0	5008	,	,		18326	0		0	False		,,,				2504	0.001					uc001alq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1633-1635)Ggt>Agt		Homo sapiens nephronophthisis 4 (NPHP4), mRNA.		C	SER/GLY	1,3899		0,1,1949	31	34	33		1633	-3	0.1	1		33	0,8276		0,0,4138	no	missense	NPHP4	NM_015102.3	56	0,1,6087	TT,TC,CC		0.0,0.0256,0.0082	benign	545/1427	5965822	1,12175	1950	4138	6088	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965822C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1633G>A	1.37:g.5965822C>T	ENSP00000367398:p.Gly545Ser					NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_5'Flank	p.G545S	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	13	1901	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	545					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1633G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	0.134	-1.109534	0.01813	2.56E-4	0.0	ENSG00000131697	ENST00000378156	D	0.86030	-2.06	5.42	-3.0	0.05480	.	0.829724	0.11139	N	0.595442	T	0.58133	0.2101	N	0.01874	-0.695	0.09310	N	1	B	0.22211	0.066	B	0.15870	0.014	T	0.51317	-0.8721	10	0.11182	T	0.66	.	8.6614	0.34095	0.0:0.4873:0.1212:0.3916	.	545	O75161	NPHP4_HUMAN	S	545	ENSP00000367398:G545S	ENSP00000367398:G545S	G	-	1	0	NPHP4	5888409	0.001000	0.12720	0.073000	0.20177	0.007000	0.05969	0.049000	0.14099	-0.901000	0.03891	-0.291000	0.09656	GGT		0.582	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			T	5965822	C	T	5965822	3	4	67	1	0	0	0	0	1	0	0	0	10581	652	23	2	2715	2	NPHP4	1	5965822	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		5965822	243284799	1	4423											
PUM1	9698	broad.mit.edu	37	chr1	31479941	31479941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaactttttacctggCaagagctgctgcaaattaaa	14	11	6	10	0	0	1	0	0	0	1	1	1	1	1	2	1	5	4	2	1	7	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:31479941C>G	ENST00000257075.5	-	4	534	c.441G>C	c.(439-441)ttG>ttC	p.L147F	PUM1_ENST00000373741.4_Missense_Mutation_p.L183F|PUM1_ENST00000440538.2_Missense_Mutation_p.L147F|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.L147F|PUM1_ENST00000373747.3_Missense_Mutation_p.L147F|PUM1_ENST00000423018.2_Intron	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	147					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTACCTGGCAAGAGCTGCT	0.393																																						uc001bsi.1																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(439-441)ttG>ttC		Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.							171	175	174					1																	31479941		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31479941C>G	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.441G>C	1.37:g.31479941C>G	ENSP00000257075:p.Leu147Phe					PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	p.L147F	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	3	554	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	147					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.441G>C	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.146110|3.146110	0.57044|0.57044	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843|ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952	.|T;T;T;T;T	.|0.20881	.|2.04;2.3;2.3;2.22;2.28	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45597|0.45597	0.1350|0.1350	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;0.999;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.986;0.993;0.997	T|T	0.30504|0.30504	-0.9976|-0.9976	5|10	.|0.62326	.|D	.|0.03	-4.0377|-4.0377	19.0513|19.0513	0.93046|0.93046	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|183;147;147;147	.|Q5T1Z8;Q14671-2;Q14671;E9PCJ0	.|.;.;PUM1_HUMAN;.	P|F	164|147;147;147;147;183;147	.|ENSP00000257075:L147F;ENSP00000362852:L147F;ENSP00000391723:L147F;ENSP00000401777:L147F;ENSP00000362846:L183F	.|ENSP00000257075:L147F	A|L	-|-	1|3	0|2	PUM1|PUM1	31252528|31252528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.777000|1.777000	0.38604|0.38604	2.736000|2.736000	0.93811|0.93811	0.557000|0.557000	0.71058|0.71058	GCC|TTG		0.393	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			G	31479941	C	G	31479941	3	3	67	1	0	0	0	0	1	0	0	0	12825	709	25	5	3201	5	PUM1	1	31479941	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	25514119	31479941	217770680	2	4424											
POLR3C	10623	broad.mit.edu	37	chr1	145608488	145608488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcaacagaagctcctcaaCaatcagctctccagtgtcac	12	9	6	14	0	5	1	4	0	1	1	7	1	6	1	2	0	4	3	2	0	4	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:145608488C>T	ENST00000334163.3	-	3	479	c.319G>A	c.(319-321)Gtt>Att	p.V107I	POLR3C_ENST00000471254.1_5'UTR|RNF115_ENST00000369291.5_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.V107I	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	107					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGCTCCTCAACAATCAGCTCT	0.493																																						uc001eog.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(358-360)Gtt>Att		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.							127	111	116					1																	145608488		2203	4300	6503	SO:0001583	missense	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608488C>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.319G>A	1.37:g.145608488C>T	ENSP00000334564:p.Val107Ile					RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.V107I|POLR3C_uc009wix.3_Missense_Mutation_p.V107I	p.V120I	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		2	401	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		107	SA -> CT (in Ref. 1; AAB63675).				O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	c.358G>A	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051748	0.36181	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.46819	0.87;0.86	4.89	4.89	0.63831	.	0.124087	0.53938	D	0.000045	T	0.29126	0.0724	L	0.56769	1.78	0.44149	D	0.996948	B;B;B	0.23806	0.023;0.091;0.043	B;B;B	0.12837	0.008;0.007;0.008	T	0.09037	-1.0693	10	0.22109	T	0.4	-14.2434	15.5812	0.76445	0.0:1.0:0.0:0.0	.	107;107;107	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	I	107	ENSP00000334564:V107I;ENSP00000358300:V107I	ENSP00000334564:V107I	V	-	1	0	POLR3C	144319845	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	3.234000	0.51320	2.530000	0.85305	0.655000	0.94253	GTT		0.493	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		T	145608488	C	T	145608488	3	4	67	1	0	0	0	0	1	0	0	0	12230	478	17	3	1337	3	POLR3C	1	145608488	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	114128547	145608488	103642133	3	4425											
C1orf129	80133	broad.mit.edu	37	chr1	170961347	170961347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcatgttctcaggcgagCgtggcccctcacgtgctgaa	6	8	14	13	4	2	1	2	1	1	0	3	2	2	1	2	3	2	3	2	3	1	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:170961347C>T	ENST00000367758.3	+	12	1170	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	MROH9_ENST00000367759.4_Silent_p.S357S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	357																	CTCAGGCGAGCGTGGCCCCTC	0.493																																						uc010plz.2																			0		p.A356V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(1069-1071)agC>agT		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.							95	96	96					1																	170961347		2028	4179	6207	SO:0001819	synonymous_variant	80133						binding	g.chr1:170961347C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1071C>T	1.37:g.170961347C>T						C1orf129_uc001ghg.3_Silent_p.S357S|C1orf129_uc009wvy.3_Silent_p.S164S	p.S357S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			11	1225	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		357					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1071C>T	CCDS41436.1																																																																																				0.493	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170961347	C	T	170961347	2	4	67	1	0	0	0	0	0	0	0	1	1996	767	27	1		1	C1orf129	1	170961347	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	25352859	170961347	78289274	4	4426											
RYR2	6262	broad.mit.edu	37	chr1	237604756	237604756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtggacgtgaaatcCgtgagaatgggatctataca	12	10	12	7	2	2	2	0	2	2	1	3	5	3	4	1	2	1	0	1	2	4	2	rs368844286	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:237604756C>T	ENST00000366574.2	+	13	1460	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	RYR2_ENST00000542537.1_Silent_p.S365S|RYR2_ENST00000360064.6_Silent_p.S379S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	381	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S379S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGTGAAATCCGTGAGAATGG	0.348													C|||	3	0.000599042	0.0015	0	5008	,	,		17511	0		0	False		,,,				2504	0.001					uc001hyl.1																			1	Substitution - coding silent(1)	p.S379S(1)|p.V380V(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1141-1143)tcC>tcT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.		C		8,3706		0,8,1849	143	132	136		1143	-10.7	0	1		136	0,8220		0,0,4110	no	coding-synonymous	RYR2	NM_001035.2		0,8,5959	TT,TC,CC		0.0,0.2154,0.067		381/4968	237604756	8,11926	1857	4110	5967	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604756C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1143C>T	1.37:g.237604756C>T							p.S381S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1263	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	381			MIR 5.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1143C>T	CCDS55691.1																																																																																				0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237604756	C	T	237604756	2	4	67	1	0	0	0	0	0	0	0	1	13769	639	23	2		2	RYR2	1	237604756	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	66643409	237604756	11645865	5	4427											
PLD5	200150	broad.mit.edu	37	chr1	242383388	242383388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccggcccttgttgtaagCggtcatgttcatgtacgtca	7	12	11	11	3	3	0	3	0	0	0	3	0	3	0	2	2	3	4	2	2	2	5	rs140243407	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:242383388C>T	ENST00000536534.2	-	5	878	c.637G>A	c.(637-639)Gct>Act	p.A213T	PLD5_ENST00000442594.2_Missense_Mutation_p.A121T|PLD5_ENST00000427495.1_Missense_Mutation_p.A151T			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	213						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGTTGTAAGCGGTCATGTTC	0.577																																						uc001hzn.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(637-639)Gct>Act		Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	138	123	128		451,13,637	5.5	1	1	dbSNP_134	128	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	PLD5	NM_001195811.1,NM_001195812.1,NM_152666.2	58,58,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	151/475,5/329,213/537	242383388	4,13002	2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383388C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.637G>A	1.37:g.242383388C>T	ENSP00000440896:p.Ala213Thr					PLD5_uc021pll.1_Missense_Mutation_p.A121T|PLD5_uc001hzl.4_Missense_Mutation_p.A151T|PLD5_uc001hzm.4_Missense_Mutation_p.A5T|PLD5_uc001hzo.2_Missense_Mutation_p.A121T	p.A213T	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	864	-	Melanoma(84;0.242)		213					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.637G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419776	0.83559	0.0	4.65E-4	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.44482	0.93;0.93;0.92	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.67145	0.996;0.992;0.975	P;B;P	0.53861	0.736;0.41;0.56	T	0.10200	-1.0640	10	0.17832	T	0.49	-10.5662	14.9263	0.70881	0.0:1.0:0.0:0.0	.	121;213;151	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	T	151;121;213	ENSP00000401285:A151T;ENSP00000414188:A121T;ENSP00000440896:A213T	ENSP00000401285:A151T	A	-	1	0	PLD5	240450011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.510000	0.73729	2.591000	0.87537	0.655000	0.94253	GCT		0.577	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		T	242383388	C	T	242383388	3	4	67	1	0	0	0	0	1	0	0	0	12049	768	27	1	997	1	PLD5	1	242383388	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	4778632	242383388	6867233	6	4428											
OR2B11	127623	broad.mit.edu	37	chr1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaatggcaattgcaccGtcaggaccacctgcacgaag	12	5	11	13	3	1	1	1	0	0	1	1	3	1	2	3	2	2	4	3	2	3	1	rs149375684	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:247614785G>A	ENST00000318749.6	-	1	523	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T167M(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAATTGCACCGTCAGGACCAC	0.592													G|||	4	0.000798722	0.003	0	5008	,	,		20090	0		0	False		,,,				2504	0					uc010pyx.2																			1	Substitution - Missense(1)	p.T167M(2)	endometrium(1)	endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(499-501)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.		G	MET/THR	19,4387	26.2+/-53.5	0,19,2184	57	52	54		500	4.1	0.5	1	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2B11	NM_001004492.1	81	0,21,6482	AA,AG,GG		0.0233,0.4312,0.1615	probably-damaging	167/318	247614785	21,12985	2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614785G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.500C>T	1.37:g.247614785G>A	ENSP00000325682:p.Thr167Met						p.T167M	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	500	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	167					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.500C>T	CCDS31090.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.439	1.087456	0.20390	0.004312	2.33E-4	ENSG00000177535	ENST00000318749	T	0.00265	8.39	4.96	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00144	0.0004	L	0.49126	1.545	0.09310	N	1	P	0.39862	0.692	B	0.26202	0.067	T	0.43718	-0.9374	10	0.52906	T	0.07	.	9.1779	0.37123	0.0982:0.0:0.9018:0.0	.	167	Q5JQS5	OR2BB_HUMAN	M	167	ENSP00000325682:T167M	ENSP00000325682:T167M	T	-	2	0	OR2B11	245681408	0.006000	0.16342	0.512000	0.27736	0.019000	0.09904	1.227000	0.32576	1.465000	0.48006	0.551000	0.68910	ACG		0.592	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		A	247614785	G	A	247614785	3	1	67	1	0	0	0	0	1	0	0	0	10988	1145	40	1	456	1	OR2B11	1	247614785	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	5231397	247614785	1635836	7	4429											
CLIP4	79745	broad.mit.edu	37	chr2	29386734	29386734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgaaaaaccccatggCaagaatgatggttcagttgg	13	9	12	7	0	1	3	1	2	0	1	1	4	1	3	2	3	2	4	2	3	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:29386734C>G	ENST00000320081.5	+	13	1827	c.1572C>G	c.(1570-1572)ggC>ggG	p.G524G	CLIP4_ENST00000404424.1_Silent_p.G524G|CLIP4_ENST00000401617.2_Silent_p.G417G|CLIP4_ENST00000401605.1_Silent_p.G524G	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	524	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACCCCATGGCAAGAATGATG	0.388																																						uc002rmv.3																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(1570-1572)ggC>ggG		Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.							145	137	140					2																	29386734		2203	4300	6503	SO:0001819	synonymous_variant	79745							g.chr2:29386734C>G	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1572C>G	2.37:g.29386734C>G						CLIP4_uc002rmu.3_Silent_p.G524G|CLIP4_uc002rmw.3_Non-coding_Transcript	p.G524G	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			12	1811	+	Acute lymphoblastic leukemia(172;0.155)		524			CAP-Gly 2.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	c.1572C>G	CCDS1770.1																																																																																				0.388	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		G	29386734	C	G	29386734	2	3	67	1	0	0	0	0	0	0	0	1	3535	697	25	5		5	CLIP4	2	29386734	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08		29386734	213812639	8	4430											
ACTG2	72	broad.mit.edu	37	chr2	74128551	74128551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctccattgtgggccGccctcgccaccaggtgcgtg	3	9	11	18	3	0	0	0	0	0	0	3	0	2	0	7	2	1	0	7	2	0	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:74128551G>A	ENST00000409624.1	+	3	756	c.113G>A	c.(112-114)cGc>cAc	p.R38H	ACTG2_ENST00000409918.1_Missense_Mutation_p.R38H|ACTG2_ENST00000409731.3_Missense_Mutation_p.R38H|ACTG2_ENST00000345517.3_Missense_Mutation_p.R38H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	38					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						ATTGTGGGCCGCCCTCGCCAC	0.637																																						uc002sjw.3																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(112-114)cGc>cAc		Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.							61	59	60					2																	74128551		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74128551G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.113G>A	2.37:g.74128551G>A	ENSP00000386857:p.Arg38His					ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010yrn.2_Missense_Mutation_p.R38H|ACTG2_uc010fey.3_Missense_Mutation_p.R38H	p.R38H	NM_001615	NP_001606	P63267	ACTH_HUMAN			1	235	+			38					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.113G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747351	0.49257	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.97480	-4.4;-2.96;-2.96;-2.96;-2.96	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000001	D	0.98058	0.9360	M	0.81239	2.535	0.44927	D	0.997948	B;D;B	0.76494	0.293;0.999;0.172	B;D;B	0.63877	0.187;0.919;0.136	D	0.98824	1.0748	10	0.87932	D	0	.	15.2323	0.73401	0.0:0.0:1.0:0.0	.	38;38;38	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	H	38	ENSP00000386929:R38H;ENSP00000295137:R38H;ENSP00000387182:R38H;ENSP00000410020:R38H;ENSP00000386857:R38H	ENSP00000295137:R38H	R	+	2	0	ACTG2	73982059	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	9.560000	0.98139	2.199000	0.70637	0.305000	0.20034	CGC		0.637	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		A	74128551	G	A	74128551	3	1	67	1	0	0	0	0	1	0	0	0	197	1087	38	1	115	1	ACTG2	2	74128551	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	44741817	74128551	169070822	9	4431											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547685	125547685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgtgtgattgcaccAattcaccttatgaagggccc	9	11	9	12	0	1	2	1	2	0	0	1	2	1	2	4	1	2	2	4	1	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:125547685A>T	ENST00000431078.1	+	18	3320	c.2956A>T	c.(2956-2958)Aat>Tat	p.N986Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	986	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGATTGCACCAATTCACCTTA	0.552																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2959-2961)Aat>Tat		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							63	70	67					2																	125547685		2074	4203	6277	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547685A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2956A>T	2.37:g.125547685A>T	ENSP00000399013:p.Asn986Tyr					CNTNAP5_uc002tno.3_Missense_Mutation_p.N986Y	p.N987Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3323	+			986			EGF-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2959A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.305334	0.01353	.	.	ENSG00000155052	ENST00000431078	T	0.76186	-1.0	5.62	4.44	0.53790	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.353536	0.23336	N	0.049281	T	0.65657	0.2712	L	0.53561	1.675	0.32106	N	0.590014	B	0.27559	0.181	B	0.29785	0.107	T	0.60944	-0.7162	10	0.02654	T	1	.	12.2273	0.54468	0.8575:0.1425:0.0:0.0	.	986	Q8WYK1	CNTP5_HUMAN	Y	986	ENSP00000399013:N986Y	ENSP00000399013:N986Y	N	+	1	0	CNTNAP5	125264155	0.600000	0.26899	0.816000	0.32577	0.189000	0.23516	3.096000	0.50243	1.039000	0.40074	0.533000	0.62120	AAT		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125547685	A	T	125547685	3	4	67	1	0	0	0	0	1	0	0	0	3650	130	5	5	3026	5	CNTNAP5	2	125547685	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	51419134	125547685	117651688	10	4432											
CDCA7	83879	broad.mit.edu	37	chr2	174231123	174231123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccctgccttcgaaaccGttatggtgaagaggtcaggg	8	9	14	10	2	1	2	1	1	0	1	2	3	1	2	4	4	2	1	4	4	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:174231123G>A	ENST00000347703.3	+	7	1055	c.911G>A	c.(910-912)cGt>cAt	p.R304H	CDCA7_ENST00000410019.3_Missense_Mutation_p.R262H|CDCA7_ENST00000306721.3_Missense_Mutation_p.R383H|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.R339H	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	304	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTCGAAACCGTTATGGTGAA	0.557																																						uc002uic.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18						c.(1147-1149)cGt>cAt		Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.							132	123	126					2																	174231123		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231123G>A	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.911G>A	2.37:g.174231123G>A	ENSP00000272789:p.Arg304His					CDCA7_uc002uid.1_Missense_Mutation_p.R304H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	p.R383H	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		7	1279	+			304					B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.1148G>A	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169493	0.94768	.	.	ENSG00000144354	ENST00000347703;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T	0.69040	-0.19;-0.37;-0.25;-0.17	5.67	5.67	0.87782	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.80332	2.49	0.80722	D	1	P;P;D;D	0.53462	0.906;0.778;0.959;0.96	P;P;P;P	0.48089	0.458;0.479;0.563;0.566	T	0.80511	-0.1350	10	0.72032	D	0.01	-16.081	19.773	0.96379	0.0:0.0:1.0:0.0	.	262;339;304;383	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	H	304;383;339;262	ENSP00000272789:R304H;ENSP00000306968:R383H;ENSP00000386656:R339H;ENSP00000386833:R262H	ENSP00000306968:R383H	R	+	2	0	CDCA7	173939369	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	9.831000	0.99420	2.677000	0.91161	0.655000	0.94253	CGT		0.557	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		A	174231123	G	A	174231123	3	1	67	1	0	0	0	0	1	0	0	0	3090	1145	40	1	1178	1	CDCA7	2	174231123	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	48683438	174231123	68968250	11	4433											
IRS1	3667	broad.mit.edu	37	chr2	227661504	227661504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctctggggatggcgtcTgatgggattgatgatctgct	6	13	14	8	1	3	3	0	3	3	0	4	5	3	5	0	4	1	1	0	4	0	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:227661504T>C	ENST00000305123.5	-	1	2971	c.1951A>G	c.(1951-1953)Aga>Gga	p.R651G	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	651					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGATGGCGTCTGATGGGATTG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021vxn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1951-1953)Aga>Gga		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							96	88	91					2																	227661504		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661504T>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1951A>G	2.37:g.227661504T>C	ENSP00000304895:p.Arg651Gly		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc002voh.4_Missense_Mutation_p.R651G	p.R651G	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	1951	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	651						Missense_Mutation	SNP	ENST00000305123.5	37	c.1951A>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	7.809	0.715308	0.15306	.	.	ENSG00000169047	ENST00000305123	T	0.58797	0.31	4.7	2.2	0.27929	.	0.070853	0.56097	D	0.000029	T	0.38799	0.1054	N	0.19112	0.55	0.34460	D	0.7016	B	0.26635	0.155	B	0.24155	0.051	T	0.45571	-0.9252	10	0.30854	T	0.27	-11.5177	11.2857	0.49220	0.0:0.0:0.3671:0.6329	.	651	P35568	IRS1_HUMAN	G	651	ENSP00000304895:R651G	ENSP00000304895:R651G	R	-	1	2	IRS1	227369748	0.963000	0.33076	0.998000	0.56505	0.996000	0.88848	0.082000	0.14847	0.759000	0.33084	0.459000	0.35465	AGA		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		C	227661504	T	C	227661504	3	2	67	1	0	0	0	0	1	0	0	0	7840	1588	55	4	1781	4	IRS1	2	227661504	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	53430381	227661504	15537869	12	4434											
EOMES	8320	broad.mit.edu	37	chr3	27761789	27761789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggattgagtccgtttatGttgaagctcaagaaaggaaa	13	11	13	4	1	1	3	1	2	0	1	2	5	2	5	1	2	1	3	1	2	5	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:27761789G>A	ENST00000295743.4	-	2	1112	c.909C>T	c.(907-909)aaC>aaT	p.N303N	EOMES_ENST00000449599.1_Silent_p.N303N|EOMES_ENST00000537516.1_Silent_p.N8N|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	303					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTCCGTTTATGTTGAAGCTCA	0.532																																						uc003cdy.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(907-909)aaC>aaT		Homo sapiens eomesodermin (EOMES), mRNA.							115	120	118					3																	27761789		2203	4300	6503	SO:0001819	synonymous_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761789G>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.909C>T	3.37:g.27761789G>A						EOMES_uc003cdx.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	p.N303N	NM_005442	NP_005433	O95936	EOMES_HUMAN			1	909	-			303					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.909C>T	CCDS2646.1																																																																																				0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		A	27761789	G	A	27761789	2	1	67	1	0	0	0	0	0	0	0	1	5147	1368	48	3		3	EOMES	3	27761789	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		27761789	170260641	13	4435											
ZNF197	10168	broad.mit.edu	37	chr3	44685661	44685661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccataccattgaggaattCtcttggctacaaaacaccaa	15	10	5	11	0	1	1	0	1	1	0	3	2	2	2	3	2	3	1	3	2	6	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:44685661C>G	ENST00000396058.1	+	5	3206	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.F1013L			O14709	ZN197_HUMAN	zinc finger protein 197	1013					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTGAGGAATTCTCTTGGCTAC	0.363																																						uc003cnm.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(3037-3039)ttC>ttG		Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.							45	48	47					3																	44685661		2199	4298	6497	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685661C>G	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.3039C>G	3.37:g.44685661C>G	ENSP00000379370:p.Phe1013Leu					ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	p.F1013L	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	3245	+			1013					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.3039C>G	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.736333	0.00681	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.05447	3.44;3.44	4.27	0.11	0.14611	.	.	.	.	.	T	0.02267	0.0070	N	0.01874	-0.695	0.09310	N	1	B	0.24920	0.114	B	0.25884	0.064	T	0.45011	-0.9290	9	0.39692	T	0.17	.	4.0263	0.09688	0.2612:0.5195:0.1306:0.0888	.	1013	O14709	ZN197_HUMAN	L	1013	ENSP00000345809:F1013L;ENSP00000379370:F1013L	ENSP00000345809:F1013L	F	+	3	2	ZNF197	44660665	0.000000	0.05858	0.700000	0.30305	0.485000	0.33311	-0.195000	0.09546	-0.369000	0.08028	-1.351000	0.01236	TTC		0.363	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		G	44685661	C	G	44685661	3	3	67	1	0	0	0	0	1	0	0	0	17756	912	32	5	3057	5	ZNF197	3	44685661	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	16923872	44685661	153336769	14	4436											
ITIH3	3699	broad.mit.edu	37	chr3	52840313	52840313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatgtgtcaccagtggaCggggatccccacttcatcat	9	11	9	12	1	4	0	3	0	1	0	5	2	5	2	3	3	0	0	3	3	1	2	rs201509967		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:52840313C>T	ENST00000449956.2	+	18	1953	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	649					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582																																						uc003dfv.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1945-1947)gaC>gaT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.							47	49	48					3																	52840313		2044	4188	6232	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840313C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1947C>T	3.37:g.52840313C>T						ITIH3_uc011bek.1_Intron	p.D649D	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	17	1983	+			649					Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1947C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298471	0.05532	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.48	-4.01	0.04045	.	.	.	.	.	T	0.69878	0.3160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74780	-0.3549	5	0.66056	D	0.02	-26.1627	14.6686	0.68926	0.0:0.5992:0.0:0.4008	.	.	.	.	W	650;638	.	ENSP00000381662:R650W	R	+	1	2	ITIH3	52815353	0.041000	0.20044	0.972000	0.41901	0.326000	0.28443	-1.083000	0.03397	-0.675000	0.05246	-0.415000	0.06103	CGG		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		T	52840313	C	T	52840313	2	4	67	1	0	0	0	0	0	0	0	1	7905	535	19	1		1	ITIH3	3	52840313	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	8154652	52840313	145182117	15	4437											
EPHA3	2042	broad.mit.edu	37	chr3	89468496	89468496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagcattatgggacagtTtgaccaccccaatatcattc	13	10	7	11	0	1	1	1	1	0	0	2	2	1	2	3	1	2	3	3	1	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:89468496T>A	ENST00000336596.2	+	11	2255	c.2030T>A	c.(2029-2031)tTt>tAt	p.F677Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.F677Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGGACAGTTTGACCACCCC	0.413										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2029-2031)tTt>tAt		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							116	107	110					3																	89468496		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89468496T>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2030T>A	3.37:g.89468496T>A	ENSP00000337451:p.Phe677Tyr	TSP Lung(6;0.00050)				EPHA3_uc021xbf.1_Missense_Mutation_p.F677Y	p.F677Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	10	2255	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	677			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2030T>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031398	0.93575	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.62498	0.02;0.02	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	L	0.52823	1.66	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.74166	-0.3753	9	.	.	.	.	15.979	0.80091	0.0:0.0:0.0:1.0	.	677	P29320	EPHA3_HUMAN	Y	677	ENSP00000337451:F677Y;ENSP00000419190:F677Y	.	F	+	2	0	EPHA3	89551186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.460000	0.39030	TTT		0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89468496	T	A	89468496	3	1	67	1	0	0	0	0	1	0	0	0	5168	1841	64	5	2098	5	EPHA3	3	89468496	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	36628183	89468496	108553934	16	4438											
ADCY5	111	broad.mit.edu	37	chr3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctcagaggcgctgcGtggctgcggcagcagcaggc	6	5	17	13	3	1	1	1	0	0	1	1	2	1	1	1	4	5	5	1	4	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:123166426G>A	ENST00000462833.1	-	1	2179	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	323					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(967-969)Cgc>Tgc		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							23	24	23					3																	123166426		2200	4295	6495	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166426G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.967C>T	3.37:g.123166426G>A	ENSP00000419361:p.Arg323Cys						p.R323C	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	0	967	-			323					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.967C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506033	0.64410	.	.	ENSG00000173175	ENST00000462833	T	0.23552	1.9	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	T	0.46092	0.1375	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	T	0.45249	-0.9274	10	0.62326	D	0.03	.	14.5651	0.68171	0.0:0.0:0.8444:0.1556	.	323	O95622	ADCY5_HUMAN	C	323	ENSP00000419361:R323C	ENSP00000419361:R323C	R	-	1	0	ADCY5	124649116	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.932000	0.63476	2.443000	0.82685	0.561000	0.74099	CGC		0.687	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123166426	G	A	123166426	3	1	67	1	0	0	0	0	1	0	0	0	297	1145	40	1	2902	1	ADCY5	3	123166426	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	33697930	123166426	74856004	17	4439											
TRH	7200	broad.mit.edu	37	chr3	129694827	129694827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcgcctcctcttcctccgGgaaaacatccagcggctgca	8	7	10	16	3	1	0	0	0	1	0	5	2	5	1	5	2	4	2	5	2	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:129694827G>A	ENST00000302649.3	+	2	695	c.168G>A	c.(166-168)cgG>cgA	p.R56R	TRH_ENST00000507066.1_Silent_p.R56R	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	56					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCTTCCTCCGGGAAAACATCC	0.672																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(166-168)cgG>cgA		Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.							21	25	24					3																	129694827		2203	4300	6503	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129694827G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.168G>A	3.37:g.129694827G>A							p.R56R	NM_007117	NP_009048	P20396	TRH_HUMAN			1	729	+			56					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.168G>A	CCDS3066.1																																																																																				0.672	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		A	129694827	G	A	129694827	2	1	67	1	0	0	0	0	0	0	0	1	16475	1219	43	3		3	TRH	3	129694827	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	6528401	129694827	68327603	18	4440											
MBNL1	4154	broad.mit.edu	37	chr3	152018103	152018103	+	Frame_Shift_Del	DEL	A	A	-																															gtaaatttgcacatccttcgAaaagctgccaagttgaaaat																										TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:152018103delA	ENST00000463374.1	+	1	632	c.121delA	c.(121-123)aaafs	p.K41fs	MBNL1_ENST00000498502.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000545754.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000357472.3_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000485509.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000282488.7_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000282486.6_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000324210.5_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000324196.5_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000355460.2_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000492948.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000485910.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000461436.1_3'UTR	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	41					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACATCCTTCGAAAAGCTGCCA	0.403																																						uc003ezm.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(121-123)aaafs		Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.							109	108	108					3																	152018103		2203	4300	6503	SO:0001589	frameshift_variant	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152018103delA	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.121delA	3.37:g.152018103delA	ENSP00000418108:p.Lys41fs					MBNL1_uc003ezh.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezk.1_Non-coding_Transcript	p.K41fs	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		0	910	+			41					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Frame_Shift_Del	DEL	ENST00000463374.1	37	c.121delA	CCDS3165.1																																																																																				0.403	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		-	152018103	A	-	152018103	7	5	67	1	0	1	0	1	0	0	0	0	9353	247	9	0	123	0	MBNL1	3	152018103	Frame_Shift_Del	DEL	A	TCGA-06-0877-01A-01W-0424-08	22323276	152018103	46004327	19	4441											
DGKG	1608	broad.mit.edu	37	chr3	186015248	186015248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcgtctgctttggtggcaTtatctgcattctgtatatta	6	18	8	9	1	3	0	0	0	3	0	4	0	3	0	1	2	2	4	1	2	4	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:186015248T>G	ENST00000265022.3	-	5	874	c.335A>C	c.(334-336)aAt>aCt	p.N112T	DGKG_ENST00000382164.4_Missense_Mutation_p.N112T|DGKG_ENST00000544847.1_Missense_Mutation_p.N112T|DGKG_ENST00000344484.4_Missense_Mutation_p.N112T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	112					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGGTGGCATTATCTGCATT	0.458																																						uc003fqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(334-336)aAt>aCt		Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						133	130	131					3																	186015248		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186015248T>G	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.335A>C	3.37:g.186015248T>G	ENSP00000265022:p.Asn112Thr					DGKG_uc003fqb.3_Missense_Mutation_p.N112T|DGKG_uc003fqc.3_Missense_Mutation_p.N112T|DGKG_uc011brx.2_Missense_Mutation_p.N112T	p.N112T	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	4	872	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		112					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.335A>C	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547187	0.04024	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	D;D;D;T	0.83419	-1.54;-1.55;-1.72;-1.4	5.1	2.45	0.29901	.	0.632676	0.15914	N	0.238444	T	0.68924	0.3054	N	0.25647	0.755	0.28382	N	0.919504	B;B;B;B	0.25441	0.007;0.102;0.082;0.126	B;B;B;B	0.28011	0.003;0.079;0.085;0.034	T	0.57545	-0.7793	10	0.30854	T	0.27	.	4.1719	0.10334	0.1774:0.0958:0.0:0.7268	.	112;112;112;112	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	112;112;112;112;115	ENSP00000265022:N112T;ENSP00000339777:N112T;ENSP00000371599:N112T;ENSP00000440507:N112T	ENSP00000265022:N112T	N	-	2	0	DGKG	187497942	0.982000	0.34865	0.969000	0.41365	0.031000	0.12232	1.625000	0.37029	0.994000	0.38892	0.454000	0.30748	AAT		0.458	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			G	186015248	T	G	186015248	3	3	67	1	0	0	0	0	1	0	0	0	4469	1493	52	5	2124	5	DGKG	3	186015248	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	33997145	186015248	12007182	20	4442											
TLR6	10333	broad.mit.edu	37	chr4	38829222	38829222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgttcctggccctgcgccGagtctgggtccactggcaca	5	10	12	14	2	1	0	0	0	1	0	3	1	3	0	4	3	1	2	4	3	1	2	rs375362297		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:38829222G>A	ENST00000381950.1	-	1	1938	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_ENST00000436693.2_Missense_Mutation_p.R625W			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	625					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1873-1875)Cgg>Tgg		Homo sapiens toll-like receptor 6 (TLR6), mRNA.		G	TRP/ARG	0,4406		0,0,2203	100	98	98		1873	3.3	0.8	4		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLR6	NM_006068.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	625/797	38829222	1,13005	2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829222G>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1873C>T	4.37:g.38829222G>A	ENSP00000371376:p.Arg625Trp					TLR6_uc003gtm.3_Missense_Mutation_p.R625W	p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1994	-			625					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1873C>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	1.089	-0.664577	0.03428	0.0	1.16E-4	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.10099	2.91;2.91	4.29	3.33	0.38152	.	0.114616	0.40064	N	0.001194	T	0.10208	0.0250	L	0.46614	1.455	0.29641	N	0.844683	B	0.21821	0.061	B	0.18561	0.022	T	0.10823	-1.0613	10	0.26408	T	0.33	.	11.1061	0.48203	0.0:0.0:0.3716:0.6284	.	625	Q9Y2C9	TLR6_HUMAN	W	625	ENSP00000389600:R625W;ENSP00000371376:R625W	ENSP00000371376:R625W	R	-	1	2	TLR6	38505617	1.000000	0.71417	0.829000	0.32907	0.157000	0.22087	4.651000	0.61447	0.800000	0.34041	0.561000	0.74099	CGG		0.512	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			A	38829222	G	A	38829222	3	1	67	1	0	0	0	0	1	0	0	0	15952	1057	37	2	521	2	TLR6	4	38829222	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		38829222	152325054	21	4443											
UGT2B10	7365	broad.mit.edu	37	chr4	69696459	69696459	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagcccacaacctcacCtggttccagtaccactcttt	8	11	6	16	0	2	0	1	0	1	0	3	0	3	0	5	1	4	4	5	1	2	4	rs556468185	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:69696459C>G	ENST00000265403.7	+	6	1476	c.1449C>G	c.(1447-1449)acC>acG	p.T483T	UGT2B10_ENST00000458688.2_Silent_p.T399T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	483					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACAACCTCACCTGGTTCCAGT	0.483																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.3																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1447-1449)acC>acG		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							190	179	183					4																	69696459		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696459C>G	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1449C>G	4.37:g.69696459C>G						UGT2B10_uc011cam.2_Silent_p.T399T	p.T483T	NM_001075	NP_001066	P36537	UDB10_HUMAN			5	1474	+			483					A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1449C>G																																																																																					0.483	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		G	69696459	C	G	69696459	2	3	67	1	0	0	0	0	0	0	0	1	16953	668	24	5		5	UGT2B10	4	69696459	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	30867237	69696459	121457817	22	4444											
PROL1	58503	broad.mit.edu	37	chr4	71275346	71275346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaacctcgactctttccgGgttatccaaacctacatttc	10	12	5	14	2	1	0	0	0	1	0	5	2	3	0	4	1	3	1	4	1	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:71275346G>T	ENST00000399575.2	+	3	475	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTCTTTCCGGGTTATCCAAA	0.398																																						uc003hfi.3																			0		p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(301-303)Ggt>Tgt		Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.							208	195	199					4																	71275346		1853	4101	5954	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275346G>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.301G>T	4.37:g.71275346G>T	ENSP00000382485:p.Gly101Cys						p.G101C	NM_021225	NP_067048	Q99935	PROL1_HUMAN			2	475	+		all_hematologic(202;0.196)	101			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.301G>T	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112676	0.06881	.	.	ENSG00000171199	ENST00000399575	T	0.32988	1.43	1.81	-3.62	0.04543	.	3.599270	0.01209	N	0.007786	T	0.24736	0.0600	L	0.39898	1.24	0.09310	N	1	D	0.56521	0.976	B	0.42163	0.378	T	0.35425	-0.9789	10	0.87932	D	0	.	4.1594	0.10277	0.4195:0.3516:0.2289:0.0	.	101	Q99935	PROL1_HUMAN	C	101	ENSP00000382485:G101C	ENSP00000382485:G101C	G	+	1	0	PROL1	71309935	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.382000	0.07408	-1.817000	0.01219	-0.964000	0.02622	GGT		0.398	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		T	71275346	G	T	71275346	3	4	67	1	0	0	0	0	1	0	0	0	12554	1232	43	5	307	5	PROL1	4	71275346	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	1578887	71275346	119878930	23	4445											
AFM	173	broad.mit.edu	37	chr4	74365895	74365895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatttatttacctttcacGcagacatgtgtcaatctcag	12	14	6	9	1	3	2	3	0	1	2	4	2	3	2	1	0	1	1	1	0	4	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:74365895G>A	ENST00000226355.3	+	12	1690	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	533	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCACGCAGACATGTG	0.393																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1597-1599)Gca>Aca		Homo sapiens afamin (AFM), mRNA.							91	88	89					4																	74365895		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74365895G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1597G>A	4.37:g.74365895G>A	ENSP00000226355:p.Ala533Thr						p.A533T	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1628	+	Breast(15;0.00102)		533			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1597G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	6.174	0.400312	0.11696	.	.	ENSG00000079557	ENST00000226355	T	0.57907	0.37	5.64	-11.3	0.00108	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.778840	0.02968	N	0.144029	T	0.28101	0.0693	L	0.28192	0.835	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.08868	-1.0701	10	0.17369	T	0.5	.	2.9537	0.05869	0.4864:0.1489:0.2146:0.1502	.	533	P43652	AFAM_HUMAN	T	533	ENSP00000226355:A533T	ENSP00000226355:A533T	A	+	1	0	AFM	74584759	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.695000	0.01913	-2.786000	0.00358	-0.819000	0.03115	GCA		0.393	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			A	74365895	G	A	74365895	3	1	67	1	0	0	0	0	1	0	0	0	361	1087	38	1	1643	1	AFM	4	74365895	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	3090549	74365895	116788381	24	4446											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146486	5146486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtctgtgcagactttacCgccagaggacttctgtttct	8	14	9	10	1	3	2	0	0	3	2	3	3	3	3	2	1	2	2	2	1	2	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:5146486C>T	ENST00000274181.7	+	3	557	c.419C>T	c.(418-420)cCg>cTg	p.P140L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P140L|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	140					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P140L(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACTTTACCGCCAGAGGAC	0.522																																						uc003jdl.3																			2	Substitution - Missense(2)	p.P140L(3)	haematopoietic_and_lymphoid_tissue(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(418-420)cCg>cTg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							118	116	116					5																	5146486		1925	4138	6063	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146486C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.419C>T	5.37:g.5146486C>T	ENSP00000274181:p.Pro140Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	p.P140L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			2	557	+			140					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.419C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.981057	0.02197	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05855	3.38;3.38	5.74	0.763	0.18459	Peptidase M12B, propeptide (1);	0.598308	0.17109	N	0.186700	T	0.05686	0.0149	L	0.37850	1.14	0.09310	N	1	B;B;B	0.18166	0.017;0.007;0.026	B;B;B	0.18263	0.005;0.005;0.021	T	0.32268	-0.9913	10	0.46703	T	0.11	.	8.9412	0.35731	0.0:0.6124:0.2012:0.1864	.	140;140;140	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	L	140	ENSP00000274181:P140L;ENSP00000421631:P140L	ENSP00000274181:P140L	P	+	2	0	ADAMTS16	5199486	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.985000	0.29578	-0.287000	0.09064	-1.119000	0.02030	CCG		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5146486	C	T	5146486	3	4	67	1	0	0	0	0	1	0	0	0	261	652	23	2	429	2	ADAMTS16	5	5146486	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		5146486	175768774	25	4447											
RICTOR	253260	broad.mit.edu	37	chr5	38972038	38972038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggatcccagaatttcCaggtttacataaattaataa	16	12	6	7	0	0	2	0	0	0	2	2	3	2	3	2	2	1	1	2	2	6	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:38972038C>T	ENST00000357387.3	-	11	943	c.913G>A	c.(913-915)Gga>Aga	p.G305R	RICTOR_ENST00000296782.5_Missense_Mutation_p.G305R	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCAGAATTTCCAGGTTTACAT	0.299																																						uc003jlo.2																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(913-915)Gga>Aga		Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.							44	47	46					5																	38972038		2203	4286	6489	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38972038C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.913G>A	5.37:g.38972038C>T	ENSP00000349959:p.Gly305Arg					RICTOR_uc003jlp.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	p.G305R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			10	935	-	all_lung(31;0.000396)		305						Missense_Mutation	SNP	ENST00000357387.3	37	c.913G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680186	0.88542	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.48522	0.81;0.82	5.25	5.25	0.73442	Armadillo-type fold (1);	0.051138	0.85682	D	0.000000	T	0.60907	0.2305	L	0.47716	1.5	0.80722	D	1	P;P;D	0.57257	0.782;0.675;0.979	B;B;P	0.59546	0.421;0.194;0.859	T	0.64032	-0.6502	10	0.87932	D	0	-14.0036	18.8385	0.92172	0.0:1.0:0.0:0.0	.	305;305;305	E7ETT0;Q6R327;Q6R327-3	.;RICTR_HUMAN;.	R	305	ENSP00000349959:G305R;ENSP00000296782:G305R	ENSP00000296782:G305R	G	-	1	0	RICTOR	39007795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.378000	0.79679	2.434000	0.82447	0.655000	0.94253	GGA		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		T	38972038	C	T	38972038	3	4	67	1	0	0	0	0	1	0	0	0	13358	603	21	3	4325	3	RICTOR	5	38972038	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	33825552	38972038	141943222	26	4448											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(11)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						52	58	56					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1706	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67589138	G	A	67589138	3	1	67	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	28617100	67589138	113326122	27	4449											
ATP10B	23120	broad.mit.edu	37	chr5	160047524	160047524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgccctggggcaggCgcacagtcacctgctcaggt	6	6	16	13	1	2	0	2	0	0	0	2	0	2	0	2	6	2	4	2	6	0	0	rs371457894		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:160047524C>T	ENST00000327245.5	-	15	3092	c.2246G>A	c.(2245-2247)cGc>cAc	p.R749H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	749					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGGCAGGCGCACAGTCAC	0.612																																						uc003lym.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2245-2247)cGc>cAc		Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.							33	37	35					5																	160047524		2100	4218	6318	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047524C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2246G>A	5.37:g.160047524C>T	ENSP00000313600:p.Arg749His					ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.3_Missense_Mutation_p.R307H	p.R749H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	3093	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	749					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2246G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002066	0.74932	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	L	0.45137	1.4	0.40004	D	0.975207	D;D	0.89917	0.998;1.0	D;D	0.68353	0.928;0.957	T	0.69412	-0.5152	9	.	.	.	.	13.4373	0.61092	0.0:0.9227:0.0:0.0773	.	357;749	Q2YDW8;O94823	.;AT10B_HUMAN	H	749;357	ENSP00000313600:R749H;ENSP00000431081:R357H	.	R	-	2	0	ATP10B	159980102	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.928000	0.28831	2.523000	0.85059	0.655000	0.94253	CGC		0.612	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160047524	C	T	160047524	3	4	67	1	0	0	0	0	1	0	0	0	1117	768	27	1	2187	1	ATP10B	5	160047524	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	92458386	160047524	20867736	28	4450											
ALDH5A1	7915	broad.mit.edu	37	chr6	24502755	24502755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatttcttttgcaggagaGgagttcattacttcggaagt	9	16	11	5	1	2	1	1	0	1	1	3	4	2	3	0	3	2	3	0	3	3	7			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:24502755G>A	ENST00000357578.3	+	2	504	c.359G>A	c.(358-360)aGg>aAg	p.R120K	ALDH5A1_ENST00000491546.1_Intron|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R120K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R32K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	120					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TTGCAGGAGAGGAGTTCATTA	0.343																																						uc003nef.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(358-360)aGg>aAg		Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						142	130	134					6																	24502755		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24502755G>A	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.359G>A	6.37:g.24502755G>A	ENSP00000350191:p.Arg120Lys					ALDH5A1_uc003neg.3_Missense_Mutation_p.R120K	p.R120K	NM_170740	NP_733936	P51649	SSDH_HUMAN			1	387	+			120					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.359G>A	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655983	0.88056	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000348925	D;D;D	0.96522	-4.04;-4.04;-4.04	5.35	5.35	0.76521	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.99305	1.0902	10	0.87932	D	0	-32.9506	18.6623	0.91475	0.0:0.0:1.0:0.0	.	120;120	P51649;G5E949	SSDH_HUMAN;.	K	120;32;120	ENSP00000350191:R120K;ENSP00000438193:R32K;ENSP00000314649:R120K	ENSP00000314649:R120K	R	+	2	0	ALDH5A1	24610734	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.944000	0.87722	2.518000	0.84900	0.305000	0.20034	AGG		0.343	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			A	24502755	G	A	24502755	3	1	67	1	0	0	0	0	1	0	0	0	502	1000	35	3	365	3	ALDH5A1	6	24502755	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		24502755	146612312	29	4451											
C6orf138	442213	broad.mit.edu	37	chr6	47976593	47976593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggccaggatgctggtCttatgaaagtccctccagag	8	11	11	11	0	2	2	0	1	2	1	4	3	4	3	3	3	1	1	3	3	2	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:47976593C>A	ENST00000339488.4	-	2	717	c.684G>T	c.(682-684)aaG>aaT	p.K228N	PTCHD4_ENST00000543600.1_Missense_Mutation_p.K211N	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	228						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGATGCTGGTCTTATGAAAGT	0.522																																						uc011dwm.2																			0											c.(682-684)aaG>aaT		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							72	72	72					6																	47976593		1977	4188	6165	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976593C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.684G>T	6.37:g.47976593C>A	ENSP00000341914:p.Lys228Asn					PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Missense_Mutation_p.K228N	p.K228N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	718	-			228					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.684G>T	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.226085|3.226085	0.58668|0.58668	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;D	.|0.86030	.|-2.06;-2.06	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.243661	.|0.43260	.|D	.|0.000598	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.50333|0.50333	1.59|1.59	0.54753|0.54753	D|D	0.999981|0.999981	.|B;P	.|0.40578	.|0.006;0.722	.|B;P	.|0.47941	.|0.013;0.562	D|D	0.83427|0.83427	0.0036|0.0036	5|10	.|0.54805	.|T	.|0.06	.|.	13.9788|13.9788	0.64291|0.64291	0.0:0.9314:0.0:0.0686|0.0:0.9314:0.0:0.0686	.|.	.|228;211	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	Y|N	228|228;211	.|ENSP00000341914:K228N;ENSP00000439864:K211N	.|ENSP00000341914:K228N	D|K	-|-	1|3	0|2	C6orf138|C6orf138	48084552|48084552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.634000|4.634000	0.61325|0.61325	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAC|AAG		0.522	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		A	47976593	C	A	47976593	3	1	67	1	0	0	0	0	1	0	0	0	2332	912	32	5	1864	5	C6orf138	6	47976593	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	23473838	47976593	123138474	30	4452											
RHAG	6005	broad.mit.edu	37	chr6	49574864	49574864	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcactttttatgctgaccTgtcatcagacctccaacaac	10	13	5	13	0	3	2	3	1	0	1	4	2	4	2	3	0	3	2	3	0	3	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:49574864T>G	ENST00000371175.4	-	8	1163	c.1137A>C	c.(1135-1137)acA>acC	p.T379T	RHAG_ENST00000229810.7_Splice_Site_p.R339R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	379					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATGCTGACCTGTCATCAGAC	0.398																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.e8+1		Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.							76	74	75					6																	49574864		2203	4300	6503	SO:0001630	splice_region_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49574864T>G		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1138+1A>C	6.37:g.49574864T>G						RHAG_uc010jzl.3_Splice_Site_p.G380_splice|RHAG_uc010jzm.3_Splice_Site_p.R339_splice	p.G380_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN			8	1200	-	Lung NSC(77;0.0255)		380		G -> V (in RHN).			B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.1138_splice	CCDS4927.1																																																																																				0.398	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Silent	G	49574864	T	G	49574864	5	3	67	1	0	0	0	0	0	0	1	0	13315	1594	55	5	104	5	RHAG	6	49574864	Splice_Site	SNP	T	TCGA-06-0877-01A-01W-0424-08	1598271	49574864	121540203	31	4453											
GSTA4	2941	broad.mit.edu	37	chr6	52850344	52850344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaacttcatcccgtcaatTtcaaccatgggcacttgttg	10	12	6	13	1	3	0	3	0	0	0	4	0	4	0	3	1	2	2	3	1	3	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:52850344T>G	ENST00000370959.1	-	4	294	c.177A>C	c.(175-177)gaA>gaC	p.E59D	GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000541324.1_5'UTR|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCCGTCAATTTCAACCATGG	0.468																																						uc003pbf.3																			0		p.E59K(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.(175-177)gaA>gaC		Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	Glutathione(DB00143)						162	142	149					6																	52850344		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52850344T>G	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.177A>C	6.37:g.52850344T>G	ENSP00000359998:p.Glu59Asp					GSTA4_uc003pbd.3_5'UTR	p.E59D	NM_001512	NP_001503	O15217	GSTA4_HUMAN			3	327	-	Lung NSC(77;0.103)		59			GST N-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.177A>C	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057055	0.76074	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	T;T	0.09630	2.96;2.96	5.36	1.73	0.24493	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	M	0.90977	3.165	0.80722	D	1	P	0.48350	0.909	P	0.59761	0.863	T	0.01378	-1.1370	10	0.87932	D	0	-34.1618	6.5442	0.22397	0.0:0.398:0.0:0.602	.	59	O15217	GSTA4_HUMAN	D	59	ENSP00000360002:E59D;ENSP00000359998:E59D	ENSP00000359998:E59D	E	-	3	2	GSTA4	52958303	0.999000	0.42202	0.998000	0.56505	0.969000	0.65631	0.441000	0.21611	0.437000	0.26423	-0.250000	0.11733	GAA		0.468	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		G	52850344	T	G	52850344	3	3	67	1	0	0	0	0	1	0	0	0	6833	1838	64	5	507	5	GSTA4	6	52850344	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	3275480	52850344	118264723	32	4454											
AMD1	262	broad.mit.edu	37	chr6	111210086	111210086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcatgtttgtctccaagaGacgtttcattttgaagacat	11	15	8	7	1	2	3	1	1	1	2	3	4	2	3	1	0	1	3	1	0	3	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:111210086G>A	ENST00000368885.3	+	3	560	c.224G>A	c.(223-225)aGa>aAa	p.R75K	AMD1_ENST00000368877.5_Missense_Mutation_p.R46K|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.R6K	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	75					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTCTCCAAGAGACGTTTCATT	0.393																																						uc003puk.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(223-225)aGa>aAa		Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	S-Adenosylmethionine(DB00118)						99	94	96					6																	111210086		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210086G>A	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.224G>A	6.37:g.111210086G>A	ENSP00000357880:p.Arg75Lys					AMD1_uc011eay.1_Missense_Mutation_p.R6K|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.R46K|AMD1_uc011eba.1_Intron	p.R75K	NM_001634	NP_001028231	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	2	546	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	75					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.224G>A	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403320	0.96051	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.54	5.54	0.83059	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86268	2.805	0.80722	D	1	D;P	0.53745	0.962;0.766	D;B	0.64042	0.921;0.395	T	0.77902	-0.2414	9	0.33940	T	0.23	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	46;75	A6NNH3;P17707	.;DCAM_HUMAN	K	75;46;6	.	ENSP00000357870:R6K	R	+	2	0	AMD1	111316779	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.363000	0.97131	2.607000	0.88179	0.585000	0.79938	AGA		0.393	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			A	111210086	G	A	111210086	3	1	67	1	0	0	0	0	1	0	0	0	566	942	33	3	234	3	AMD1	6	111210086	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	58359742	111210086	59904981	33	4455											
CCDC129	223075	broad.mit.edu	37	chr7	31614192	31614192	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgggagatagatccagTggagattctcttggatctgg	9	14	13	5	0	2	3	0	0	2	3	4	6	3	4	1	4	0	0	1	4	1	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:31614192T>C	ENST00000407970.3	+	7	472	c.434T>C	c.(433-435)gTg>gCg	p.V145A	CCDC129_ENST00000451887.2_Missense_Mutation_p.V171A|CCDC129_ENST00000409210.1_Missense_Mutation_p.V53A|CCDC129_ENST00000319386.3_Missense_Mutation_p.V145A|CCDC129_ENST00000482748.1_3'UTR	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	145										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATAGATCCAGTGGAGATTCTC	0.443																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(511-513)gTg>gCg		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							153	164	160					7																	31614192		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31614192T>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.434T>C	7.37:g.31614192T>C	ENSP00000384416:p.Val145Ala					CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tcj.1_Missense_Mutation_p.V145A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	p.V171A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			6	524	+			145					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.512T>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531669	0.64972	.	.	ENSG00000180347	ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T;T;T	0.54071	0.76;2.07;2.27;0.59;2.25;2.02	5.66	3.13	0.36017	.	0.227330	0.28290	N	0.015892	T	0.63200	0.2491	M	0.69823	2.125	0.27133	N	0.961851	D;D;D;D	0.61697	0.99;0.971;0.971;0.971	P;P;P;P	0.57371	0.819;0.783;0.783;0.654	T	0.57266	-0.7841	9	.	.	.	-1.1507	10.6517	0.45653	0.2556:0.0:0.0:0.7444	.	171;155;145;145	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	A	145;145;145;145;171;155;53	ENSP00000390544:V145A;ENSP00000313062:V145A;ENSP00000384416:V145A;ENSP00000413233:V145A;ENSP00000395835:V171A;ENSP00000387214:V53A	.	V	+	2	0	CCDC129	31580717	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	3.665000	0.54532	0.960000	0.38005	0.460000	0.39030	GTG		0.443	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		C	31614192	T	C	31614192	3	2	67	1	0	0	0	0	1	0	0	0	2764	1696	59	4	456	4	CCDC129	7	31614192	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08		31614192	127524471	34	4456											
NPTX2	4885	broad.mit.edu	37	chr7	98254242	98254242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccccaggcaatagcGcctttaagtcaccagatgcg	11	6	8	16	2	1	1	1	0	0	1	1	1	1	1	5	1	3	1	5	1	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:98254242G>A	ENST00000265634.3	+	3	817	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	218					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCAATAGCGCCTTTAAGTC	0.582																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(652-654)Gcc>Acc		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							229	193	206					7																	98254242		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254242G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.652G>A	7.37:g.98254242G>A	ENSP00000265634:p.Ala218Thr						p.A218T	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	829	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		218					A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.652G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.868076	0.32977	.	.	ENSG00000106236	ENST00000265634	T	0.10099	2.91	5.57	5.57	0.84162	.	0.046090	0.85682	D	0.000000	T	0.06096	0.0158	N	0.19112	0.55	0.80722	D	1	B	0.33379	0.41	B	0.18561	0.022	T	0.46105	-0.9215	10	0.19590	T	0.45	-0.0138	11.9332	0.52857	0.0793:0.0:0.9207:0.0	.	218	P47972	NPTX2_HUMAN	T	218	ENSP00000265634:A218T	ENSP00000265634:A218T	A	+	1	0	NPTX2	98092178	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	5.647000	0.67923	2.619000	0.88677	0.561000	0.74099	GCC		0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		A	98254242	G	A	98254242	3	1	67	1	0	0	0	0	1	0	0	0	10603	1087	38	1	662	1	NPTX2	7	98254242	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	66640050	98254242	60884421	35	4457											
SLC26A4	5172	broad.mit.edu	37	chr7	107350617	107350617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaccaagtgaaatctcaAgagggtcaaggttccatttt	14	10	9	8	0	2	3	2	1	1	2	4	3	3	3	2	2	1	1	2	2	5	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:107350617A>G	ENST00000265715.3	+	19	2432	c.2208A>G	c.(2206-2208)caA>caG	p.Q736Q	SLC26A4_ENST00000543100.1_Silent_p.Q305Q|SLC26A4_ENST00000541474.1_Silent_p.Q297Q|SLC26A4_ENST00000544569.1_Silent_p.Q323Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	736					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGAAATCTCAAGAGGGTCAAG	0.363									Pendred syndrome																													uc003vep.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2206-2208)caA>caG		Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.							102	95	98					7																	107350617		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350617A>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2208A>G	7.37:g.107350617A>G						SLC26A4_uc011kmb.2_Silent_p.Q323Q|SLC26A4_uc011kmc.2_Silent_p.Q297Q|SLC26A4_uc011kmd.2_Silent_p.Q305Q	p.Q736Q	NM_000441	NP_000432	O43511	S26A4_HUMAN			18	2432	+			736					B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.2208A>G	CCDS5746.1																																																																																				0.363	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		G	107350617	A	G	107350617	2	3	67	1	0	0	0	0	0	0	0	1	14519	69	3	4		4	SLC26A4	7	107350617	Silent	SNP	A	TCGA-06-0877-01A-01W-0424-08	9096375	107350617	51788046	36	4458											
SHH	6469	broad.mit.edu	37	chr7	155599026	155599026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggatatgtgccttggactCgtagtacacccagtcgaagc	9	10	12	10	2	0	0	0	0	0	0	2	3	0	2	2	2	3	2	2	2	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599026C>T	ENST00000297261.2	-	2	676	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	176			Missing (in HPE3). {ECO:0000269|PubMed:15221788, ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTGGACTCGTAGTACACC	0.652																																						uc003wmk.1																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(526-528)Gag>Aag		Homo sapiens sonic hedgehog (SHH), mRNA.							73	67	69					7																	155599026		2203	4299	6502	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599026C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.526G>A	7.37:g.155599026C>T	ENSP00000297261:p.Glu176Lys					SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	p.E176K	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	677	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	176		Missing (in HPE3).			A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.526G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359543	0.95854	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99409	-5.85;-5.85	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.968	D;P;P	0.80764	0.994;0.902;0.557	D	0.97900	1.0302	10	0.87932	D	0	.	15.2317	0.73395	0.0:1.0:0.0:0.0	.	176;179;89	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	K	176;89	ENSP00000297261:E176K;ENSP00000396621:E89K	ENSP00000297261:E176K	E	-	1	0	SHH	155291787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	1.858000	0.53909	0.561000	0.74099	GAG		0.652	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		T	155599026	C	T	155599026	3	4	67	1	0	0	0	0	1	0	0	0	14279	893	31	2	870	2	SHH	7	155599026	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	48248409	155599026	3539637	37	4459			1	14		2	2	16	C		4.263925e-05
SHH	6469	broad.mit.edu	37	chr7	155599041	155599041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactcgtagtacacccagtCgaagccggcctccaccgcca	9	5	10	17	4	0	0	0	0	0	0	3	2	1	1	6	2	2	2	6	2	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599041C>T	ENST00000297261.2	-	2	661	c.511G>A	c.(511-513)Gac>Aac	p.D171N	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	171			D -> H (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACACCCAGTCGAAGCCGGCC	0.652																																						uc003wmk.1																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(511-513)Gac>Aac		Homo sapiens sonic hedgehog (SHH), mRNA.							76	68	71					7																	155599041		2203	4300	6503	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599041C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.511G>A	7.37:g.155599041C>T	ENSP00000297261:p.Asp171Asn					SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	p.D171N	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	662	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	171		D -> H (in HPE3).			A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.511G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237790	0.95240	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99656	-6.31;-6.31	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.986	D	0.97008	0.9734	10	0.87932	D	0	.	15.2317	0.73395	0.0:1.0:0.0:0.0	.	171;174;84	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	N	171;84	ENSP00000297261:D171N;ENSP00000396621:D84N	ENSP00000297261:D171N	D	-	1	0	SHH	155291802	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.409000	0.80053	1.858000	0.53909	0.561000	0.74099	GAC		0.652	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		T	155599041	C	T	155599041	3	4	67	1	0	0	0	0	1	0	0	0	14279	884	31	2	885	2	SHH	7	155599041	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	15	155599041	3539622	38	4460			1	14		2	2	16	C		4.263925e-05
DLC1	10395	broad.mit.edu	37	chr8	12952442	12952442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgaatccgggacttgaCccccgattttctgaagagcc	9	9	10	13	2	1	4	0	3	1	1	2	6	2	5	5	1	2	0	5	1	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:12952442C>T	ENST00000276297.4	-	12	3761	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	DLC1_ENST00000358919.2_Missense_Mutation_p.V681I|DLC1_ENST00000520226.1_Missense_Mutation_p.V607I|DLC1_ENST00000512044.2_Missense_Mutation_p.V715I|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1118	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGGACTTGACCCCCGATTTT	0.507																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3352-3354)Gtc>Atc		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							50	49	49					8																	12952442		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952442C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3352G>A	8.37:g.12952442C>T	ENSP00000276297:p.Val1118Ile					DLC1_uc003wwk.1_Missense_Mutation_p.V681I|DLC1_uc003wwl.1_Missense_Mutation_p.V715I|DLC1_uc011kxx.1_Missense_Mutation_p.V607I	p.V1118I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			11	3796	-			1118			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3352G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635526	0.96682	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.82517	2.595	0.80722	D	1	P;D;D	0.69078	0.631;0.997;0.958	B;D;P	0.68353	0.427;0.957;0.815	T	0.56866	-0.7908	10	0.87932	D	0	.	18.8143	0.92071	0.0:1.0:0.0:0.0	.	1118;715;681	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	I	1118;681;57;715;607	ENSP00000276297:V1118I;ENSP00000351797:V681I;ENSP00000422595:V715I;ENSP00000428028:V607I	ENSP00000276297:V1118I	V	-	1	0	DLC1	12996813	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.633000	0.83260	2.761000	0.94854	0.650000	0.86243	GTC		0.507	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12952442	C	T	12952442	3	4	67	1	0	0	0	0	1	0	0	0	4550	507	18	3	1262	3	DLC1	8	12952442	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		12952442	133411580	39	4461											
ELP3	55140	broad.mit.edu	37	chr8	28017799	28017799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgggaaacattcttGtcatacgaagacccagatca	12	9	11	9	1	3	2	2	0	1	2	3	4	3	3	1	3	2	1	1	3	3	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:28017799G>A	ENST00000256398.8	+	13	1688	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	ELP3_ENST00000524103.1_Silent_p.L365L|ELP3_ENST00000542181.1_Silent_p.L308L|ELP3_ENST00000380353.4_Silent_p.L345L|ELP3_ENST00000521015.1_Silent_p.L423L|ELP3_ENST00000537665.1_Silent_p.L318L	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	437	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAACATTCTTGTCATACGAAG	0.383																																						uc003xgo.4																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1309-1311)ttG>ttA		Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.							138	130	133					8																	28017799		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:28017799G>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1311G>A	8.37:g.28017799G>A						ELP3_uc003xgn.4_Silent_p.L422L|ELP3_uc011las.2_Silent_p.L318L|ELP3_uc011lat.2_Silent_p.L318L|ELP3_uc011laq.2_Silent_p.L365L|ELP3_uc011lar.2_Silent_p.L345L	p.L437L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	12	1459	+		Ovarian(32;0.0218)	437			N-acetyltransferase.		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.1311G>A	CCDS6065.1																																																																																				0.383	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		A	28017799	G	A	28017799	2	1	67	1	0	0	0	0	0	0	0	1	5081	1368	48	3		3	ELP3	8	28017799	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	15065357	28017799	118346223	40	4462											
CHD7	55636	broad.mit.edu	37	chr8	61764695	61764695	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagctataaaaggcaacAgatgaggcaagaggccctaa	16	4	12	9	1	0	3	0	1	0	2	0	3	0	3	1	3	2	4	1	3	6	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:61764695A>T	ENST00000423902.2	+	29	6262	c.5783A>T	c.(5782-5784)cAg>cTg	p.Q1928L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1928					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGGCAACAGATGAGGCAA	0.527																																						uc003xue.3																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(5782-5784)cAg>cTg		Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.							56	56	56					8																	61764695		1894	4097	5991	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61764695A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5783A>T	8.37:g.61764695A>T	ENSP00000392028:p.Gln1928Leu					CHD7_uc022aux.1_Intron	p.Q1928L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		28	6275	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1928					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5783A>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214877	0.58452	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90444	-2.67	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	L	0.41027	1.25	0.80722	D	1	B	0.21520	0.057	B	0.20955	0.032	T	0.83212	-0.0073	10	0.37606	T	0.19	-16.4459	15.691	0.77453	1.0:0.0:0.0:0.0	.	1928	Q9P2D1	CHD7_HUMAN	L	1928	ENSP00000392028:Q1928L	ENSP00000307304:Q1928L	Q	+	2	0	CHD7	61927249	1.000000	0.71417	0.944000	0.38274	0.997000	0.91878	7.412000	0.80091	2.172000	0.68678	0.533000	0.62120	CAG		0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61764695	A	T	61764695	3	4	67	1	0	0	0	0	1	0	0	0	3330	188	7	5	5893	5	CHD7	8	61764695	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	33746896	61764695	84599327	41	4463											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744582	70744582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcatggccaaggcGgaggacaccgagaaggtttt	10	7	15	9	2	0	1	0	0	0	1	1	5	1	4	3	6	1	2	3	6	2	2	rs145247874	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:70744582G>A	ENST00000260126.4	-	2	1033	c.327C>T	c.(325-327)tcC>tcT	p.S109S	RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Silent_p.S109S|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S109S|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGCCAAGGCGGAGGACACCG	0.622											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(325-327)tcC>tcT		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	112	106	108		327,327,327	3.2	0.8	8	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	109/688,109/794,109/849	70744582	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744582G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.327C>T	8.37:g.70744582G>A			OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.3_Silent_p.S109S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	p.S109S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		1	1034	-	Breast(64;0.0654)		109					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.327C>T	CCDS6205.1																																																																																				0.622	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		A	70744582	G	A	70744582	2	1	67	1	0	0	0	0	0	0	0	1	14731	1103	39	2		2	SLCO5A1	8	70744582	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	8979887	70744582	75619440	42	4464											
SLC24A2	25769	broad.mit.edu	37	chr9	19786746	19786746	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagacccatgaaaaggcctAagactcgaattaacttcagt	15	8	7	11	1	1	3	1	1	0	2	2	4	1	3	3	1	1	0	3	1	5	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:19786746A>C	ENST00000341998.2	-	1	180	c.119T>G	c.(118-120)tTa>tGa	p.L40*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.L40*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	40					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAAAAGGCCTAAGACTCGAAT	0.438																																						uc003zoa.2																			0		p.V39V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(118-120)tTa>tGa		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.							127	130	129					9																	19786746		2203	4300	6503	SO:0001587	stop_gained	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786746A>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.119T>G	9.37:g.19786746A>C	ENSP00000344801:p.Leu40*					SLC24A2_uc003zob.2_Nonsense_Mutation_p.L40*	p.L40*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	0	272	-			40					B7ZLL8|Q9NTN5|Q9NZQ4	Nonsense_Mutation	SNP	ENST00000341998.2	37	c.119T>G	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	A	38	6.783617	0.97837	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.7	5.7	0.88788	.	0.875096	0.09972	N	0.732168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9536	0.79861	1.0:0.0:0.0:0.0	.	.	.	.	X	40	.	.	L	-	2	0	SLC24A2	19776746	1.000000	0.71417	0.852000	0.33557	0.996000	0.88848	8.725000	0.91468	2.164000	0.68074	0.533000	0.62120	TTA		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		C	19786746	A	C	19786746	4	2	67	1	0	0	0	0	0	1	0	0	14466	372	13	5	1906	5	SLC24A2	9	19786746	Nonsense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08		19786746	121426685	43	4465											
TESK1	7016	broad.mit.edu	37	chr9	35609460	35609460	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgggctggggagccctgGaaccgggcccagcatagcct	6	5	17	13	1	0	0	0	0	0	0	0	2	0	2	4	6	4	3	4	6	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:35609460G>A	ENST00000336395.5	+	10	1852	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	534					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCCCTGGAACCGGGCCC	0.692																																						uc003zxa.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1600-1602)tgG>tgA		Homo sapiens testis-specific kinase 1 (TESK1), mRNA.							18	21	20					9																	35609460		2145	4253	6398	SO:0001587	stop_gained	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609460G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1602G>A	9.37:g.35609460G>A	ENSP00000338127:p.Trp534*					TESK1_uc010mks.3_Nonsense_Mutation_p.W374*	p.W534*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1938	+			534					Q8IXZ8	Nonsense_Mutation	SNP	ENST00000336395.5	37	c.1602G>A	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	37	6.125840	0.97305	.	.	ENSG00000107140	ENST00000535770;ENST00000336395	.	.	.	5.24	5.24	0.73138	.	0.000000	0.40640	N	0.001044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-9.0973	15.5865	0.76489	0.0:0.0:1.0:0.0	.	.	.	.	X	65;534	.	ENSP00000338127:W534X	W	+	3	0	TESK1	35599460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.143000	0.71756	2.436000	0.82500	0.563000	0.77884	TGG		0.692	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		A	35609460	G	A	35609460	4	1	67	1	0	0	0	0	0	1	0	0	15764	1183	41	3	1640	3	TESK1	9	35609460	Nonsense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	15822714	35609460	105603971	44	4466											
ADAMTS14	140766	broad.mit.edu	37	chr10	72517795	72517795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaacagcctcgggcattgCgagggggataggccagacac	10	4	15	12	2	0	1	0	0	0	1	1	3	0	2	3	4	3	1	3	4	2	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:72517795C>T	ENST00000373207.1	+	20	3015	c.3015C>T	c.(3013-3015)tgC>tgT	p.C1005C	ADAMTS14_ENST00000373208.1_Silent_p.C1008C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1005	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGGCATTGCGAGGGGGATA	0.667																																						uc001jrg.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3022-3024)tgC>tgT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.							46	43	44					10																	72517795		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72517795C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3015C>T	10.37:g.72517795C>T						ADAMTS14_uc001jrh.3_Silent_p.C1005C	p.C1008C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN			19	3024	+			1005			TSP type-1 4.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.3024C>T	CCDS7306.1																																																																																				0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72517795	C	T	72517795	2	4	67	1	0	0	0	0	0	0	0	1	259	776	27	1		1	ADAMTS14	10	72517795	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08		72517795	63016952	45	4467											
EIF3A	8661	broad.mit.edu	37	chr10	120801816	120801816	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaccccgatcatcatccaaCcctcgcctgggaccccggtc	7	6	9	19	3	2	0	2	0	0	0	5	3	3	2	7	3	1	0	7	3	1	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:120801816C>G	ENST00000369144.3	-	19	3343	c.3216G>C	c.(3214-3216)ggG>ggC	p.G1072G	EIF3A_ENST00000541549.1_Silent_p.G1038G	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATCATCCAACCCTCGCCTGG	0.637																																						uc001ldu.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3214-3216)ggG>ggC		Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.							163	156	158					10																	120801816		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801816C>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3216G>C	10.37:g.120801816C>G						EIF3A_uc010qsu.2_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	p.G1072G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	18	3362	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1072			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.3216G>C	CCDS7608.1																																																																																				0.637	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		G	120801816	C	G	120801816	2	3	67	1	0	0	0	0	0	0	0	1	5012	494	18	5		5	EIF3A	10	120801816	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	48284021	120801816	14732931	46	4468											
DHX32	55760	broad.mit.edu	37	chr10	127527726	127527726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgagtgctgaacagttgagGaagtaatcacgacaccactt	13	9	10	9	1	1	3	1	3	0	0	1	5	1	4	1	1	2	3	1	1	3	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:127527726G>C	ENST00000284690.3	-	9	2215	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	DHX32_ENST00000284688.6_Missense_Mutation_p.F494L|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.F199L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	575						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGAGGAAGTAATCAC	0.453																																						uc001ljf.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1723-1725)ttC>ttG		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.							114	105	108					10																	127527726		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127527726G>C		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1725C>G	10.37:g.127527726G>C	ENSP00000284690:p.Phe575Leu					BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc001ljc.4_Intron|BCCIP_uc010quj.2_Intron	p.F575L	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			8	2216	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	575					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1725C>G	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236664	0.79800	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.22945	1.93;3.85;3.52	5.02	4.12	0.48240	.	0.054353	0.85682	D	0.000000	T	0.11239	0.0274	N	0.08118	0	0.38795	D	0.955063	P	0.49090	0.919	B	0.34418	0.182	T	0.12243	-1.0555	10	0.87932	D	0	-39.0158	11.1081	0.48214	0.1545:0.0:0.8455:0.0	.	575	Q7L7V1	DHX32_HUMAN	L	199;575;494	ENSP00000357710:F199L;ENSP00000284690:F575L;ENSP00000284688:F494L	ENSP00000284688:F494L	F	-	3	2	DHX32	127517716	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.383000	0.34385	1.348000	0.45733	-0.123000	0.14984	TTC		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		C	127527726	G	C	127527726	3	2	67	1	0	0	0	0	1	0	0	0	4505	1165	41	5	518	5	DHX32	10	127527726	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	6725910	127527726	8007021	47	4469											
ELF5	2001	broad.mit.edu	37	chr11	34515184	34515184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacttgtactggtcgcagCagaactggagccactcccac	10	7	9	15	1	0	1	0	0	0	1	2	2	1	2	3	2	5	3	3	2	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:34515184C>T	ENST00000312319.2	-	3	456	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	ELF5_ENST00000528709.1_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.C66Y|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000257832.2_Missense_Mutation_p.C66Y	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	76	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTGGTCGCAGCAGAACTGGAG	0.527											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(61;202 1660 4348 21594)	uc001mvo.1																			0				large_intestine(4)|skin(1)	5						c.(226-228)tGc>tAc		Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.							97	85	89					11																	34515184		2202	4298	6500	SO:0001583	missense	2001				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34515184C>T	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.227G>A	11.37:g.34515184C>T	ENSP00000311010:p.Cys76Tyr		OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.C66Y|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.C66Y	p.C76Y	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN			2	457	-		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	76			PNT.		A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Missense_Mutation	SNP	ENST00000312319.2	37	c.227G>A	CCDS7892.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456987	0.63401	.	.	ENSG00000135374	ENST00000257832;ENST00000312319;ENST00000532417	T;T;T	0.30182	1.54;1.54;1.54	4.66	4.66	0.58398	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.64402	D	0.000001	T	0.48295	0.1492	L	0.40543	1.245	0.50632	D	0.999881	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.995	T	0.50701	-0.8797	10	0.62326	D	0.03	.	17.5733	0.87941	0.0:1.0:0.0:0.0	.	66;76	Q9UKW6-3;Q9UKW6	.;ELF5_HUMAN	Y	66;76;66	ENSP00000257832:C66Y;ENSP00000311010:C76Y;ENSP00000436386:C66Y	ENSP00000257832:C66Y	C	-	2	0	ELF5	34471760	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.306000	0.59117	2.146000	0.66826	0.561000	0.74099	TGC		0.527	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381		T	34515184	C	T	34515184	3	4	67	1	0	0	0	0	1	0	0	0	5057	710	25	3	590	3	ELF5	11	34515184	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		34515184	100491332	48	4470											
OR5D13	390142	broad.mit.edu	37	chr11	55541628	55541628	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaagtgggcgccagaaaActttctccacctgtgcctcc	8	9	9	15	1	1	1	0	0	1	1	3	1	2	1	5	1	3	1	5	1	3	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55541628A>T	ENST00000361760.1	+	1	715	c.715A>T	c.(715-717)Act>Tct	p.T239S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCGCCAGAAAACTTTCTCCAC	0.418																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(715-717)Act>Tct		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							135	119	124					11																	55541628		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541628A>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.715A>T	11.37:g.55541628A>T	ENSP00000354800:p.Thr239Ser						p.T239S	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	715	+		all_epithelial(135;0.196)	239					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.715A>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244463	0.22796	.	.	ENSG00000198877	ENST00000361760	T	0.00099	8.73	3.82	-4.35	0.03656	GPCR, rhodopsin-like superfamily (1);	0.826337	0.09843	U	0.748557	T	0.00178	0.0005	L	0.33245	0.995	0.19945	N	0.999944	B	0.28760	0.221	B	0.39771	0.309	T	0.25813	-1.0121	10	0.87932	D	0	-3.2827	15.3066	0.73995	0.158:0.0:0.842:0.0	.	239	Q8NGL4	OR5DD_HUMAN	S	239	ENSP00000354800:T239S	ENSP00000354800:T239S	T	+	1	0	OR5D13	55298204	0.087000	0.21565	0.035000	0.18076	0.062000	0.15995	0.231000	0.17872	-0.920000	0.03799	-0.523000	0.04350	ACT		0.418	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		T	55541628	A	T	55541628	3	4	67	1	0	0	0	0	1	0	0	0	11154	43	2	5	717	5	OR5D13	11	55541628	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	21026444	55541628	79464888	49	4471											
OR5L2	26338	broad.mit.edu	37	chr11	55594866	55594866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagctctcggctccacaccCccgtgtactttttcctcagc	5	12	6	18	2	3	0	2	0	1	0	6	0	5	0	4	1	3	3	4	1	1	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55594866C>A	ENST00000378397.1	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTCCACACCCCCGTGTACTT	0.468										HNSCC(27;0.073)																												uc001nhy.1																			0		p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(172-174)Ccc>Acc		Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.							254	233	240					11																	55594866		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594866C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.172C>A	11.37:g.55594866C>A	ENSP00000367650:p.Pro58Thr	HNSCC(27;0.073)					p.P58T	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			0	172	+		all_epithelial(135;0.208)	58					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.172C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271855	0.40194	.	.	ENSG00000205030	ENST00000378397	T	0.02032	4.49	5.31	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000172	T	0.21509	0.0518	H	0.97707	4.06	0.43435	D	0.995608	D	0.89917	1.0	D	0.97110	1.0	T	0.31336	-0.9947	10	0.72032	D	0.01	-36.8392	13.1571	0.59524	0.0:0.9219:0.0:0.0781	.	58	Q8NGL0	OR5L2_HUMAN	T	58	ENSP00000367650:P58T	ENSP00000367650:P58T	P	+	1	0	OR5L2	55351442	1.000000	0.71417	0.940000	0.37924	0.055000	0.15305	5.604000	0.67626	1.421000	0.47157	-0.169000	0.13324	CCC		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		A	55594866	C	A	55594866	3	1	67	1	0	0	0	0	1	0	0	0	11171	623	22	5	174	5	OR5L2	11	55594866	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	53238	55594866	79411650	50	4472											
OR5W2	390148	broad.mit.edu	37	chr11	55681471	55681471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacggtgaataacactaaCtcattgacctgtgtatctga	14	11	8	8	1	2	4	1	3	1	1	2	4	2	4	1	1	2	1	1	1	5	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55681471C>G	ENST00000344514.1	-	1	587	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAACACTAACTCATTGACCT	0.383																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(586-588)gaG>gaC		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							63	64	64					11																	55681471		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681471C>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.588G>C	11.37:g.55681471C>G	ENSP00000342448:p.Glu196Asp						p.E196D	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	588	-			196						Missense_Mutation	SNP	ENST00000344514.1	37	c.588G>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408147	0.42715	.	.	ENSG00000187612	ENST00000344514	T	0.00249	8.44	5.0	-0.29	0.12847	GPCR, rhodopsin-like superfamily (1);	0.229124	0.22199	N	0.063266	T	0.00356	0.0011	M	0.75884	2.315	0.09310	N	1	D	0.63046	0.992	D	0.69479	0.964	T	0.51196	-0.8736	10	0.72032	D	0.01	.	3.2466	0.06799	0.2927:0.3675:0.0:0.3399	.	196	Q8NH69	OR5W2_HUMAN	D	196	ENSP00000342448:E196D	ENSP00000342448:E196D	E	-	3	2	OR5W2	55438047	0.000000	0.05858	0.023000	0.16930	0.641000	0.38312	-2.818000	0.00751	-0.095000	0.12351	0.542000	0.68232	GAG		0.383	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		G	55681471	C	G	55681471	3	3	67	1	0	0	0	0	1	0	0	0	11185	564	20	5	346	5	OR5W2	11	55681471	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	86605	55681471	79325045	51	4473											
OR9G1	390174	broad.mit.edu	37	chr11	56468275	56468275	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcccaggccatgtccataAagctgtgtgcattgctggta	9	11	11	10	0	0	0	0	0	0	0	1	0	1	0	3	2	4	4	3	2	3	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468275A>T	ENST00000312153.1	+	1	412	c.412A>T	c.(412-414)Aag>Tag	p.K138*		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CATGTCCATAAAGCTGTGTGC	0.493																																						uc010rjn.2																			0											c.(412-414)Aag>Tag		Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.							197	184	188					11																	56468275		2201	4296	6497	SO:0001587	stop_gained	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468275A>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.412A>T	11.37:g.56468275A>T	ENSP00000309012:p.Lys138*					OR8U8_uc001nit.2_Intron	p.K138*	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN			0	412	+			138					Q6IEU9|Q8NGQ0	Nonsense_Mutation	SNP	ENST00000312153.1	37	c.412A>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	A	9.829	1.187978	0.21954	.	.	ENSG00000174914	ENST00000312153	.	.	.	4.52	3.3	0.37823	.	0.615904	0.15318	N	0.268691	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-7.8145	2.5975	0.04857	0.6122:0.1528:0.0874:0.1477	.	.	.	.	X	138	.	ENSP00000309012:K138X	K	+	1	0	OR9G1	56224851	0.000000	0.05858	0.006000	0.13384	0.315000	0.28087	-0.260000	0.08708	2.006000	0.58801	0.467000	0.42956	AAG		0.493	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		T	56468275	A	T	56468275	4	4	67	1	0	0	0	0	0	1	0	0	11250	15	1	5	414	5	OR9G1	11	56468275	Nonsense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	786804	56468275	78538241	52	4474											
OR9G1	390174	broad.mit.edu	37	chr11	56468515	56468515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatcctggcctcctacCtctttatcatcaccagtgtc	6	14	5	16	0	4	0	3	0	1	0	7	0	6	0	5	1	2	1	5	1	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468515C>A	ENST00000312153.1	+	1	652	c.652C>A	c.(652-654)Ctc>Atc	p.L218I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GGCCTCCTACCTCTTTATCAT	0.532																																						uc010rjn.2																			0											c.(652-654)Ctc>Atc		Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.							174	175	175					11																	56468515		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468515C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.652C>A	11.37:g.56468515C>A	ENSP00000309012:p.Leu218Ile					OR8U8_uc001nit.2_Intron	p.L218I	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN			0	652	+			218					Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.652C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420591	0.04734	.	.	ENSG00000174914	ENST00000312153	T	0.00063	8.78	4.52	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	0.778678	0.11286	N	0.579857	T	0.00039	0.0001	N	0.01618	-0.8	0.09310	N	1	B	0.18461	0.028	B	0.26310	0.068	T	0.12863	-1.0531	10	0.13108	T	0.6	-7.3113	0.5669	0.00689	0.357:0.1204:0.2462:0.2764	.	218	Q8NH87	OR9G1_HUMAN	I	218	ENSP00000309012:L218I	ENSP00000309012:L218I	L	+	1	0	OR9G1	56225091	0.000000	0.05858	0.105000	0.21289	0.084000	0.17831	-3.813000	0.00360	-1.121000	0.02949	0.573000	0.79308	CTC		0.532	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		A	56468515	C	A	56468515	3	1	67	1	0	0	0	0	1	0	0	0	11250	681	24	5	654	5	OR9G1	11	56468515	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	240	56468515	78538001	53	4475											
HTR3B	9177	broad.mit.edu	37	chr11	113815368	113815368	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcgtgttggtcaaattcctCcatgatgagcagcgtggtgg	8	12	13	8	2	1	2	1	2	0	0	4	2	3	2	2	3	2	2	2	3	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:113815368C>G	ENST00000260191.2	+	8	1238	c.981C>G	c.(979-981)ctC>ctG	p.L327L	HTR3B_ENST00000537778.1_Silent_p.L316L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	327					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TCAAATTCCTCCATGATGAGC	0.557																																						uc001pok.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(979-981)ctC>ctG		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.							223	179	194					11																	113815368		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815368C>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.981C>G	11.37:g.113815368C>G						HTR3B_uc001pol.3_Silent_p.L316L	p.L327L	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	1119	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	327					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.981C>G	CCDS8364.1																																																																																				0.557	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		G	113815368	C	G	113815368	2	3	67	1	0	0	0	0	0	0	0	1	7445	842	30	5		5	HTR3B	11	113815368	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	57346853	113815368	21191148	54	4476											
MAP3K12	7786	broad.mit.edu	37	chr12	53875972	53875972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtagatagtgactggCgcatgttcaggctctgaggc	9	10	15	7	1	2	4	1	3	1	1	2	4	2	4	0	4	0	4	0	4	3	3	rs149876591		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:53875972C>T	ENST00000267079.2	-	14	2459	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R778H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R778H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	745					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAGTGACTGGCGCATGTTCAG	0.512											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sdn.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2332-2334)cGc>cAc		Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	196	175	182		2333,2234	4.4	1	12	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MAP3K12	NM_001193511.1,NM_006301.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	778/893,745/860	53875972	1,13005	2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875972C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2234G>A	12.37:g.53875972C>T	ENSP00000267079:p.Arg745His		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_uc001sdm.2_Missense_Mutation_p.R745H	p.R778H	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN			12	2604	-			745					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2333G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995730	0.35226	0.0	1.16E-4	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.56941	0.43;0.43;0.43	4.36	4.36	0.52297	.	0.000000	0.46442	D	0.000291	T	0.33381	0.0861	N	0.19112	0.55	0.35860	D	0.827425	D;P	0.52996	0.957;0.928	B;B	0.42245	0.381;0.211	T	0.22800	-1.0206	10	0.13853	T	0.58	.	10.3728	0.44064	0.0:0.9067:0.0:0.0932	.	778;745	G3V1Y2;Q12852	.;M3K12_HUMAN	H	745;778;778	ENSP00000267079:R745H;ENSP00000449038:R778H;ENSP00000448689:R778H	ENSP00000267079:R745H	R	-	2	0	MAP3K12	52162239	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.376000	0.59556	2.721000	0.93114	0.491000	0.48974	CGC		0.512	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		T	53875972	C	T	53875972	3	4	67	1	0	0	0	0	1	0	0	0	9246	768	27	1	353	1	MAP3K12	12	53875972	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		53875972	79975923	55	4477											
CUX2	23316	broad.mit.edu	37	chr12	111748125	111748125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccccagccttctatggCgccaagccccccacagcccc	6	6	6	23	1	1	0	0	0	1	0	2	0	2	0	10	1	3	0	10	1	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:111748125C>T	ENST00000261726.6	+	15	1693	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	513	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTCTATGGCGCCAAGCCCC	0.741																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1537-1539)ggC>ggT		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							5	5	5					12																	111748125		1765	3900	5665	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748125C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1539C>T	12.37:g.111748125C>T							p.G513G	NM_015267	NP_056082	O14529	CUX2_HUMAN			14	1693	+			513			Pro-rich.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1539C>T	CCDS41837.1																																																																																				0.741	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		T	111748125	C	T	111748125	2	4	67	1	0	0	0	0	0	0	0	1	4065	755	27	1		1	CUX2	12	111748125	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	57872153	111748125	22103770	56	4478											
TMEM132B	114795	broad.mit.edu	37	chr12	125834741	125834741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggagtgtggtggtctacCcaacccaagatgatctgaag	10	10	13	8	0	2	3	0	2	2	1	2	4	2	4	2	3	2	0	2	3	4	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:125834741C>G	ENST00000299308.3	+	2	804	c.796C>G	c.(796-798)Cca>Gca	p.P266A		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	266						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTGGTCTACCCAACCCAAGA	0.577																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(796-798)Cca>Gca		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							146	144	144					12																	125834741		1983	4151	6134	SO:0001583	missense	114795					integral to membrane		g.chr12:125834741C>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.796C>G	12.37:g.125834741C>G	ENSP00000299308:p.Pro266Ala					TMEM132B_uc021rgl.1_Missense_Mutation_p.P156A	p.P266A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	1	804	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		266					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.796C>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496314	0.44352	.	.	ENSG00000139364	ENST00000299308	T	0.11063	2.81	5.34	4.44	0.53790	.	.	.	.	.	T	0.10852	0.0265	L	0.47190	1.495	0.80722	D	1	B	0.33171	0.4	B	0.33960	0.173	T	0.14090	-1.0485	9	0.16420	T	0.52	.	13.4114	0.60944	0.0:0.9249:0.0:0.0751	.	266	Q14DG7	T132B_HUMAN	A	266	ENSP00000299308:P266A	ENSP00000299308:P266A	P	+	1	0	TMEM132B	124400694	1.000000	0.71417	0.988000	0.46212	0.556000	0.35491	3.760000	0.55235	2.488000	0.83962	0.655000	0.94253	CCA		0.577	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		G	125834741	C	G	125834741	3	3	67	1	0	0	0	0	1	0	0	0	16043	623	22	5	802	5	TMEM132B	12	125834741	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	14086616	125834741	8017154	57	4479											
TBC1D4	9882	broad.mit.edu	37	chr13	75933904	75933904	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgatatactttgatacataCctgagaacaagaggagatat	17	11	8	5	0	0	5	0	3	0	3	0	7	0	5	1	1	4	0	1	1	7	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr13:75933904C>T	ENST00000377636.3	-	3	1517		c.e3+1		TBC1D4_ENST00000425511.1_Splice_Site|TBC1D4_ENST00000377625.2_Splice_Site|TBC1D4_ENST00000431480.2_Splice_Site	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4						cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGATACATACCTGAGAACAA	0.313																																						uc001vjl.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.e3+1		Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.							64	62	63					13																	75933904		1804	4061	5865	SO:0001630	splice_region_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75933904C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1170+1G>A	13.37:g.75933904C>T						TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	p.Q390_splice	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	3	1517	-		Prostate(6;0.014)|Breast(118;0.0982)	390			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Splice_Site	SNP	ENST00000377636.3	37	c.1170_splice	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977324	0.92982	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.418	0.99029	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBC1D4	74831905	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.689000	0.84165	2.902000	0.99343	0.650000	0.86243	.		0.313	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	Intron	T	75933904	C	T	75933904	5	4	67	1	0	0	0	0	0	0	1	0	15619	521	18	3	2801	3	TBC1D4	13	75933904	Splice_Site	SNP	C	TCGA-06-0877-01A-01W-0424-08		75933904	39235974	58	4480											
SERPINA1	5265	broad.mit.edu	37	chr14	94849558	94849558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaggaggatgccccacGagacagaagacggcattgtc	12	4	13	12	2	0	3	0	0	0	3	1	6	0	5	3	3	2	2	3	3	1	1	rs140814100		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr14:94849558G>A	ENST00000448921.1	-	4	589	c.17C>T	c.(16-18)tCg>tTg	p.S6L	SERPINA1_ENST00000393087.4_Missense_Mutation_p.S6L|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S6L|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S6L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S6L|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S6L|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S6L|SERPINA1_ENST00000402629.1_Missense_Mutation_p.S6L|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S6L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	6					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GATGCCCCACGAGACAGAAGA	0.612																																						uc001ycy.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CM900181	SERPINA1	M	rs140814100	c.(16-18)tCg>tTg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	Alpha-1-proteinase inhibitor(DB00058)	G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	49	46	47		17,17,17,17,17,17,17,17,17,17,17	3.8	0	14	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SERPINA1	NM_000295.4,NM_001002235.2,NM_001002236.2,NM_001127700.1,NM_001127701.1,NM_001127702.1,NM_001127703.1,NM_001127704.1,NM_001127705.1,NM_001127706.1,NM_001127707.1	145,145,145,145,145,145,145,145,145,145,145	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419	94849558	3,13003	2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849558G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.17C>T	14.37:g.94849558G>A	ENSP00000416066:p.Ser6Leu					SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.S6L|SERPINA1_uc010auy.3_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.4_Missense_Mutation_p.S6L|SERPINA1_uc010auz.3_Missense_Mutation_p.S6L|SERPINA1_uc010ava.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.4_Missense_Mutation_p.S6L|SERPINA1_uc010avb.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.4_Missense_Mutation_p.S6L|SERPINA1_uc010auw.3_Missense_Mutation_p.S6L|SERPINA1_uc010aux.3_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L	p.S6L	NM_001002236	NP_001121179	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	571	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	6					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.17C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245318	0.22796	4.54E-4	1.16E-4	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000556091;ENST00000557492;ENST00000556955;ENST00000553327;ENST00000557118	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-1.61;-1.73;-2.11;-2.34;-2.02	5.64	3.79	0.43588	.	1.283680	0.05301	N	0.523030	D	0.89487	0.6729	L	0.55990	1.75	0.09310	N	1	D;P	0.58620	0.983;0.577	P;B	0.56216	0.794;0.133	T	0.75622	-0.3254	10	0.35671	T	0.21	.	7.7874	0.29099	0.1845:0.0:0.8155:0.0	.	6;6	P01009-2;P01009	.;A1AT_HUMAN	L	6	ENSP00000390299:S6L;ENSP00000416066:S6L;ENSP00000408474:S6L;ENSP00000348068:S6L;ENSP00000376802:S6L;ENSP00000376803:S6L;ENSP00000385960:S6L;ENSP00000416354:S6L;ENSP00000386094:S6L;ENSP00000452169:S6L;ENSP00000452452:S6L;ENSP00000451098:S6L;ENSP00000452480:S6L;ENSP00000451826:S6L	ENSP00000348068:S6L	S	-	2	0	SERPINA1	93919311	0.000000	0.05858	0.014000	0.15608	0.062000	0.15995	0.157000	0.16402	1.520000	0.48965	0.561000	0.74099	TCG		0.612	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		A	94849558	G	A	94849558	3	1	67	1	0	0	0	0	1	0	0	0	14086	1059	37	2	1255	2	SERPINA1	14	94849558	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		94849558	12499982	59	4481											
SLC12A1	6557	broad.mit.edu	37	chr15	48566793	48566793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgattttgagattggcGtggttatagtcagaatcagc	10	15	11	5	1	2	3	2	2	0	2	2	4	2	3	0	2	1	1	0	2	3	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:48566793G>A	ENST00000558405.1	+	19	2442	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	SLC12A1_ENST00000396577.3_Missense_Mutation_p.V810M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.V810M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	810					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGAGATTGGCGTGGTTATAGT	0.383																																						uc001zwn.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2428-2430)Gtg>Atg		Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						128	110	116					15																	48566793		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48566793G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2428G>A	15.37:g.48566793G>A	ENSP00000453409:p.Val810Met					SLC12A1_uc010uew.1_Missense_Mutation_p.V616M|SLC12A1_uc010bem.3_Missense_Mutation_p.V810M|SLC12A1_uc001zwq.4_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.4_Missense_Mutation_p.V537M	p.V810M	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	19	2644	+		all_lung(180;0.00219)	810					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2428G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637674	0.67130	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.95756	-3.8;-3.8	5.9	5.9	0.94986	.	0.341251	0.29342	N	0.012439	D	0.95370	0.8497	M	0.69823	2.125	0.58432	D	0.999994	P;P	0.51537	0.946;0.691	B;B	0.43155	0.41;0.206	D	0.95699	0.8747	10	0.87932	D	0	.	19.8787	0.96886	0.0:0.0:1.0:0.0	.	810;810	E9PDW4;Q13621	.;S12A1_HUMAN	M	810	ENSP00000370381:V810M;ENSP00000379822:V810M	ENSP00000370381:V810M	V	+	1	0	SLC12A1	46354085	0.998000	0.40836	0.996000	0.52242	0.838000	0.47535	2.680000	0.46918	2.800000	0.96347	0.591000	0.81541	GTG		0.383	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			A	48566793	G	A	48566793	3	1	67	1	0	0	0	0	1	0	0	0	14382	1145	40	1	2602	1	SLC12A1	15	48566793	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		48566793	53964599	60	4482											
ISLR2	57611	broad.mit.edu	37	chr15	74425374	74425374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcaccgtggagccaggCgcactggccgtgctgagtca	6	6	16	13	4	1	1	1	1	0	0	1	2	1	2	3	3	3	3	3	3	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:74425374C>T	ENST00000361742.3	+	4	1048	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ISLR2_ENST00000435464.1_Silent_p.G93G|ISLR2_ENST00000453268.2_Silent_p.G93G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Silent_p.G93G|ISLR2_ENST00000565159.1_Silent_p.G93G|ISLR2_ENST00000419208.1_Silent_p.G93G|ISLR2_ENST00000565540.1_Silent_p.G93G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	93					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGGAGCCAGGCGCACTGGCCG	0.637																																						uc002axd.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(277-279)ggC>ggT		Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.							54	48	50					15																	74425374		2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425374C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.279C>T	15.37:g.74425374C>T						ISLR2_uc002axe.3_Silent_p.G93G|ISLR2_uc010bjg.3_Silent_p.G93G|ISLR2_uc010bjf.3_Silent_p.G93G|ISLR2_uc021sqe.1_Silent_p.G93G	p.G93G	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN			3	1048	+			93					A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.279C>T	CCDS10259.1																																																																																				0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		T	74425374	C	T	74425374	2	4	67	1	0	0	0	0	0	0	0	1	7859	755	27	1		1	ISLR2	15	74425374	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	25858581	74425374	28106018	61	4483											
PCSK6	5046	broad.mit.edu	37	chr15	101968175	101968175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacttctcccgcacaacGagtgccgtgtctgaaacaaa	13	7	8	13	3	2	1	0	1	2	0	3	2	2	1	2	0	5	2	2	0	4	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:101968175G>T	ENST00000348070.1	-	7	741	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R248S|PCSK6_ENST00000398181.2_Missense_Mutation_p.R248S|PCSK6_ENST00000344273.2_Missense_Mutation_p.R248S|PCSK6_ENST00000331826.7_Missense_Mutation_p.R83S	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	249	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCACAACGAGTGCCGTGT	0.512																																						uc002bxa.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(742-744)Cgt>Agt		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							27	30	29					15																	101968175		2061	4189	6250	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101968175G>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.742C>A	15.37:g.101968175G>T	ENSP00000305056:p.Arg248Ser					PCSK6_uc010bpd.3_Missense_Mutation_p.R119S|PCSK6_uc002bwy.3_Missense_Mutation_p.R248S|PCSK6_uc010bpe.3_Missense_Mutation_p.R245S|PCSK6_uc002bxb.2_Missense_Mutation_p.R248S|PCSK6_uc002bxc.1_Missense_Mutation_p.R248S|PCSK6_uc002bxd.1_Missense_Mutation_p.R248S|PCSK6_uc002bxe.3_Missense_Mutation_p.R248S|PCSK6_uc002bxg.1_Missense_Mutation_p.R248S	p.R248S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	1056	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		249			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.742C>A		.	.	.	.	.	.	.	.	.	.	G	19.52	3.842633	0.71488	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.0	5.0	0.66597	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.92711	0.7683	M	0.67569	2.06	0.52501	D	0.999959	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;0.999;0.999;1.0;1.0;1.0	D	0.93578	0.6910	10	0.87932	D	0	-30.0309	17.3048	0.87192	0.0:0.0:1.0:0.0	.	249;154;248;249;248;248;249;249;248	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	S	248;248;153;248;248;83	ENSP00000305056:R248S;ENSP00000351193:R248S;ENSP00000344410:R248S;ENSP00000381243:R248S;ENSP00000332052:R83S	ENSP00000332052:R83S	R	-	1	0	PCSK6	99785698	1.000000	0.71417	0.622000	0.29159	0.915000	0.54546	6.875000	0.75551	2.298000	0.77334	0.655000	0.94253	CGT		0.512	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		T	101968175	G	T	101968175	3	4	67	1	0	0	0	0	1	0	0	0	11604	1058	37	5	2711	5	PCSK6	15	101968175	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	27542801	101968175	563217	62	4484											
UBN1	29855	broad.mit.edu	37	chr16	4909917	4909917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagaagaagaaaaaagatGacacttatgacaaggagaag	23	5	10	3	0	0	7	0	2	0	5	0	8	0	7	0	1	0	0	0	1	10	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:4909917G>A	ENST00000396658.4	+	5	1322	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UBN1_ENST00000262376.6_Missense_Mutation_p.D207N|UBN1_ENST00000590769.1_Missense_Mutation_p.D207N|UBN1_ENST00000545171.1_Missense_Mutation_p.D207N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	207	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAAAGATGACACTTATGA	0.443																																						uc002cyb.3																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(619-621)Gac>Aac		Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.							105	95	98					16																	4909917		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4909917G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.619G>A	16.37:g.4909917G>A	ENSP00000379894:p.Asp207Asn					UBN1_uc010uxw.2_Missense_Mutation_p.D207N|UBN1_uc002cyc.3_Missense_Mutation_p.D207N	p.D207N	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN			5	958	+			207			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.619G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293949	0.81025	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.47869	1.43;0.83;1.43	5.49	5.49	0.81192	.	0.113605	0.56097	D	0.000022	T	0.64103	0.2568	L	0.55481	1.735	0.54753	D	0.999984	D;D	0.71674	0.998;0.996	D;P	0.68353	0.957;0.906	T	0.59478	-0.7447	10	0.37606	T	0.19	-28.3377	18.2875	0.90119	0.0:0.0:1.0:0.0	.	207;207	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	207	ENSP00000262376:D207N;ENSP00000442379:D207N;ENSP00000379894:D207N	ENSP00000262376:D207N	D	+	1	0	UBN1	4849918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.812000	0.69194	2.735000	0.93741	0.561000	0.74099	GAC		0.443	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		A	4909917	G	A	4909917	3	1	67	1	0	0	0	0	1	0	0	0	16889	1290	45	3	637	3	UBN1	16	4909917	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		4909917	85444836	63	4485											
SLC12A3	6559	broad.mit.edu	37	chr16	56928513	56928513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgcaagatccgtgtgttCgtaggcggccagattaacag	12	9	12	8	3	0	2	0	0	0	2	2	2	1	2	2	2	2	3	2	2	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:56928513C>T	ENST00000563236.1	+	22	2617	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	SLC12A3_ENST00000438926.2_Silent_p.F873F|SLC12A3_ENST00000262502.5_Silent_p.F863F|SLC12A3_ENST00000566786.1_Silent_p.F872F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	864					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCGTGTGTTCGTAGGCGGCC	0.582																																						uc002ekd.4																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2617-2619)ttC>ttT		Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						148	111	123					16																	56928513		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56928513C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2592C>T	16.37:g.56928513C>T						SLC12A3_uc010ccm.3_Silent_p.F864F|SLC12A3_uc010ccn.3_Silent_p.F872F	p.F873F	NM_000339	NP_000330	P55017	S12A3_HUMAN			21	2648	+			864					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.2619C>T	CCDS58464.1																																																																																				0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			T	56928513	C	T	56928513	2	4	67	1	0	0	0	0	0	0	0	1	14384	883	31	2		2	SLC12A3	16	56928513	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	52018596	56928513	33426240	64	4486											
CPNE7	27132	broad.mit.edu	37	chr16	89656340	89656340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctttggggtttggagcccGgatccctcccaagtatgagg	6	10	14	11	2	0	1	0	1	0	0	2	3	2	3	3	5	1	3	3	5	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:89656340G>A	ENST00000268720.5	+	13	1452	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	CPNE7_ENST00000319518.8_Missense_Mutation_p.R366Q	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	441	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTTGGAGCCCGGATCCCTCCC	0.622																																						uc002fnp.3																			0		p.R441G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(1321-1323)cGg>cAg		Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.							82	70	74					16																	89656340		2198	4298	6496	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89656340G>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1322G>A	16.37:g.89656340G>A	ENSP00000268720:p.Arg441Gln					CPNE7_uc002fnq.3_Missense_Mutation_p.R366Q	p.R441Q	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	12	1452	+		all_hematologic(23;0.0748)	441			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1322G>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	7.052	0.564716	0.13498	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.22134	1.97;1.97;1.97	4.02	4.02	0.46733	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.05012	-0.13	0.43508	D	0.995763	P;B	0.40107	0.703;0.332	B;B	0.34093	0.175;0.091	T	0.15492	-1.0435	10	0.02654	T	1	-8.7565	16.1035	0.81203	0.0:0.0:1.0:0.0	.	366;441	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	Q	366;441;86	ENSP00000317374:R366Q;ENSP00000268720:R441Q;ENSP00000435876:R86Q	ENSP00000268720:R441Q	R	+	2	0	CPNE7	88183841	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	3.293000	0.51779	1.937000	0.56155	0.462000	0.41574	CGG		0.622	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89656340	G	A	89656340	3	1	67	1	0	0	0	0	1	0	0	0	3817	1116	39	2	1372	2	CPNE7	16	89656340	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	32727827	89656340	698413	65	4487											
TRPV2	51393	broad.mit.edu	37	chr17	16321183	16321183	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaaagggaacaggtgccagGtgagacagcaagtgggggca	13	3	18	7	1	0	1	0	1	0	1	0	4	0	2	1	5	3	2	1	5	3	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:16321183G>A	ENST00000338560.7	+	2	599		c.e2+1		RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_Splice_Site	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGTGCCAGGTGAGACAGCA	0.617																																						uc002gpy.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.e2+1		Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.							24	24	24					17																	16321183		2203	4300	6503	SO:0001630	splice_region_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321183G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.200+1G>A	17.37:g.16321183G>A						TRPV2_uc002gpz.3_Splice_Site	p.S67_splice	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	599	+			67			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Splice_Site	SNP	ENST00000338560.7	37	c.200_splice	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801114	0.50315	.	.	ENSG00000187688	ENST00000338560	.	.	.	5.39	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2087	0.48784	0.0863:0.0:0.9137:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPV2	16261908	1.000000	0.71417	0.811000	0.32455	0.247000	0.25773	3.506000	0.53364	1.389000	0.46526	0.455000	0.32223	.		0.617	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	Intron	A	16321183	G	A	16321183	5	1	67	1	0	0	0	0	0	0	1	0	16593	1275	44	3	203	3	TRPV2	17	16321183	Splice_Site	SNP	G	TCGA-06-0877-01A-01W-0424-08		16321183	64874027	66	4488											
EFCAB5	374786	broad.mit.edu	37	chr17	28434861	28434861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgatgcagatcattcccGaactgaagtatggaaatttg	12	12	9	8	1	1	3	1	2	0	1	3	5	3	4	2	1	2	2	2	1	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:28434861G>A	ENST00000394835.3	+	23	4523	c.4331G>A	c.(4330-4332)cGa>cAa	p.R1444Q	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R916Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1320Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1444							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCATTCCCGAACTGAAGTA	0.308																																						uc002het.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4330-4332)cGa>cAa		Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.							81	71	74					17																	28434861		1840	4092	5932	SO:0001583	missense	374786						calcium ion binding	g.chr17:28434861G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4331G>A	17.37:g.28434861G>A	ENSP00000378312:p.Arg1444Gln					EFCAB5_uc010cse.3_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.3_Missense_Mutation_p.R795Q	p.R1444Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			22	4523	+			1444					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4331G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	8.812	0.935553	0.18206	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.34859	2.64;2.73;1.34;2.73	4.51	3.54	0.40534	.	0.111083	0.36444	N	0.002595	T	0.32763	0.0840	L	0.46741	1.465	0.20821	N	0.999842	D;P;P	0.61080	0.989;0.841;0.933	P;B;B	0.47528	0.549;0.272;0.438	T	0.10941	-1.0608	10	0.24483	T	0.36	-14.804	8.2855	0.31926	0.1071:0.0:0.8929:0.0	.	916;1320;1444	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	Q	1444;1320;916;1126	ENSP00000378312:R1444Q;ENSP00000322003:R1320Q;ENSP00000378309:R916Q;ENSP00000417009:R1126Q	ENSP00000322003:R1320Q	R	+	2	0	EFCAB5	25458987	0.991000	0.36638	0.134000	0.22075	0.004000	0.04260	2.666000	0.46799	1.116000	0.41820	-0.136000	0.14681	CGA		0.308	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		A	28434861	G	A	28434861	3	1	67	1	0	0	0	0	1	0	0	0	4938	1058	37	2	4588	2	EFCAB5	17	28434861	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	12113678	28434861	52760349	67	4489											
ERBB2	2064	broad.mit.edu	37	chr17	37884124	37884124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaccccgagtacttgacaCcccagggaggagctgcccct	10	5	11	15	1	0	2	0	1	0	1	0	5	0	4	6	2	4	2	6	2	2	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:37884124C>A	ENST00000269571.5	+	27	3754	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	ERBB2_ENST00000540147.1_Missense_Mutation_p.P1169T|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000541774.1_Missense_Mutation_p.P1184T|ERBB2_ENST00000445658.2_Missense_Mutation_p.P923T|ERBB2_ENST00000584601.1_Missense_Mutation_p.P1169T|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000406381.2_Missense_Mutation_p.P1169T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1199					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTACTTGACACCCCAGGGAGG	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												uc002hso.3		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3595-3597)Ccc>Acc		Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						53	62	59					17																	37884124		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884124C>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3595C>A	17.37:g.37884124C>A	ENSP00000269571:p.Pro1199Thr	TCGA GBM(5;<1E-08)				ERBB2_uc010cwa.3_Missense_Mutation_p.P1184T|ERBB2_uc002hsm.3_Missense_Mutation_p.P1169T|ERBB2_uc002hsp.3_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.3_3'UTR|ERBB2_uc010wek.2_Missense_Mutation_p.P923T	p.P1199T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	26	3833	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1199					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3595C>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324733	0.41197	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.2	5.2	0.72013	.	.	.	.	.	D	0.82342	0.5016	N	0.16166	0.38	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.434	D;D;B	0.91635	0.997;0.999;0.145	T	0.76702	-0.2862	9	0.07030	T	0.85	.	18.342	0.90308	0.0:1.0:0.0:0.0	.	923;1184;1199	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	T	1169;1184;923;1199;1169	ENSP00000385185:P1169T;ENSP00000446466:P1184T;ENSP00000404047:P923T;ENSP00000269571:P1199T;ENSP00000443562:P1169T	ENSP00000269571:P1199T	P	+	1	0	ERBB2	35137650	0.983000	0.35010	0.996000	0.52242	0.382000	0.30200	2.447000	0.44917	2.404000	0.81709	0.563000	0.77884	CCC		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			A	37884124	C	A	37884124	3	1	67	1	0	0	0	0	1	0	0	0	5206	507	18	5	3701	5	ERBB2	17	37884124	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	9449263	37884124	43311086	68	4490											
AOC3	8639	broad.mit.edu	37	chr17	41003669	41003669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagtggagttgcagctGcctcccaaggctgcagccct	6	10	11	14	0	1	0	1	0	1	0	3	1	2	1	3	2	5	5	3	2	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:41003669G>A	ENST00000308423.2	+	1	469	c.309G>A	c.(307-309)ctG>ctA	p.L103L	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	103					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTTGCAGCTGCCTCCCAAGG	0.672																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(307-309)ctG>ctA		Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	Hydralazine(DB01275)|Phenelzine(DB00780)						22	28	26					17																	41003669		2146	4202	6348	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003669G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.309G>A	17.37:g.41003669G>A							p.L103L	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	0	469	+		Breast(137;0.000143)	103					B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.309G>A	CCDS11444.1																																																																																				0.672	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		A	41003669	G	A	41003669	2	1	67	1	0	0	0	0	0	0	0	1	728	1306	46	3		3	AOC3	17	41003669	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	3119545	41003669	40191541	69	4491											
KIF2B	84643	broad.mit.edu	37	chr17	51901522	51901522	+	Frame_Shift_Del	DEL	C	C	-																															tggaagaagaagctgcaagtCcttgaggatggcaatcagca																										TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:51901522delC	ENST00000268919.4	+	1	1284	c.1128delC	c.(1126-1128)gtcfs	p.V376fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	376	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGCAAGTCCTTGAGGATG	0.468																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1126-1128)gtcfs		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							125	111	116					17																	51901522		2203	4300	6503	SO:0001589	frameshift_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901522delC	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1128delC	17.37:g.51901522delC	ENSP00000268919:p.Val376fs					KIF2B_uc010wna.1_Non-coding_Transcript	p.V376fs	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	1284	+			376			Kinesin-motor.		Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	c.1128delC	CCDS32685.1																																																																																				0.468	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		-	51901522	C	-	51901522	7	5	67	1	0	1	0	1	0	0	0	0	8298	842	30	0	1130	0	KIF2B	17	51901522	Frame_Shift_Del	DEL	C	TCGA-06-0877-01A-01W-0424-08	10897853	51901522	29293688	70	4492											
GALNT1	2589	broad.mit.edu	37	chr18	33257555	33257555	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatttgctttgtctctagGtgtaaaacaaaggtgtatcc	10	14	10	7	0	1	0	0	0	1	0	3	0	2	0	1	3	2	4	1	3	5	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:33257555G>A	ENST00000269195.5	+	3	418	c.315G>A	c.(313-315)ggG>ggA	p.G105G	GALNT1_ENST00000537549.1_Splice_Site_p.G45G	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	105					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TTGTCTCTAGGTGTAAAACAA	0.383																																						uc010dmu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.e4-1		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.							124	112	116					18																	33257555		2203	4300	6503	SO:0001630	splice_region_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33257555G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.315-1G>A	18.37:g.33257555G>A						GALNT1_uc002kyz.4_Splice_Site_p.G45_splice|GALNT1_uc002kzb.3_Splice_Site_p.G105_splice	p.G105_splice	NM_020474	NP_065207	Q10472	GALT1_HUMAN			4	368	+			105					Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.315_splice	CCDS11915.1																																																																																				0.383	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	Silent	A	33257555	G	A	33257555	5	1	67	1	0	0	0	0	0	0	1	0	6207	1275	44	3	325	3	GALNT1	18	33257555	Splice_Site	SNP	G	TCGA-06-0877-01A-01W-0424-08		33257555	44819693	71	4493											
PARD6G	84552	broad.mit.edu	37	chr18	77918374	77918374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacggggcggaagtcgcgCgggaggccgatgtccaggtg	7	5	20	9	6	0	0	0	0	0	0	2	4	1	2	2	6	1	0	2	6	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:77918374C>T	ENST00000353265.3	-	3	608	c.411G>A	c.(409-411)ccG>ccA	p.P137P	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	137	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGAAGTCGCGCGGGAGGCCGA	0.731																																						uc002lny.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(409-411)ccG>ccA		Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.							22	19	20					18																	77918374		2181	4277	6458	SO:0001819	synonymous_variant	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77918374C>T		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"par-6 (partitioning defective 6, C.elegans) homolog gamma", "par-6 partitioning defective 6 homolog gamma (C. elegans)"			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.411G>A	18.37:g.77918374C>T						LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	p.P137P	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	2	577	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	137			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A8QM57	Silent	SNP	ENST00000353265.3	37	c.411G>A	CCDS12022.1																																																																																				0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		T	77918374	C	T	77918374	2	4	67	1	0	0	0	0	0	0	0	1	11447	755	27	1		1	PARD6G	18	77918374	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	44660819	77918374	158874	72	4494											
C3	718	broad.mit.edu	37	chr19	6680227	6680227	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggataagctctacattaaaGtattggtgaactttgaaagc	14	13	9	5	0	1	2	0	2	1	0	1	3	1	3	0	2	4	2	0	2	7	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6680227G>T	ENST00000245907.6	-	36	4490	c.4398C>A	c.(4396-4398)taC>taA	p.Y1466*	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1466					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y1466*(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTACATTAAAGTATTGGTGAA	0.542																																						uc002mfm.3																			1	Substitution - Nonsense(1)	p.Y1466*(2)	large_intestine(1)	breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4396-4398)taC>taA		Homo sapiens complement component 3 (C3), mRNA.							111	106	107					19																	6680227		2203	4300	6503	SO:0001587	stop_gained	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6680227G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4398C>A	19.37:g.6680227G>T	ENSP00000245907:p.Tyr1466*						p.Y1466*	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4460	-			1466					A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	c.4398C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	41	9.158183	0.99084	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.97	1.66	0.24008	.	0.429687	0.23526	N	0.047224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8081	0.46529	0.2757:0.0:0.7243:0.0	.	.	.	.	X	1466	.	ENSP00000245907:Y1466X	Y	-	3	2	C3	6631227	0.119000	0.22226	0.812000	0.32479	0.250000	0.25880	0.036000	0.13819	0.528000	0.28580	-1.163000	0.01768	TAC		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6680227	G	T	6680227	4	4	67	1	0	0	0	0	0	1	0	0	2204	1024	36	5	617	5	C3	19	6680227	Nonsense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		6680227	52448756	73	4495											
EMR1	2015	broad.mit.edu	37	chr19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatatcactccggctgttCggacggaatacttaggtagg	11	10	11	9	3	1	0	1	0	0	0	3	2	2	2	1	5	1	3	1	5	6	5	rs376031317		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6913826C>T	ENST00000312053.4	+	11	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_ENST00000250572.8_Missense_Mutation_p.R429W|EMR1_ENST00000381404.4_Missense_Mutation_p.R377W|EMR1_ENST00000450315.3_Missense_Mutation_p.R252W|EMR1_ENST00000381407.5_Missense_Mutation_p.R288W	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498																																						uc002mfw.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1285-1287)Cgg>Tgg		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.							139	127	131					19																	6913826		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913826C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1285C>T	19.37:g.6913826C>T	ENSP00000311545:p.Arg429Trp					EMR1_uc010dvc.3_Missense_Mutation_p.R429W|EMR1_uc010dvb.3_Missense_Mutation_p.R377W|EMR1_uc010xji.2_Missense_Mutation_p.R288W|EMR1_uc010xjj.2_Missense_Mutation_p.R252W	p.R429W	NM_001974	NP_001965	Q14246	EMR1_HUMAN			10	1323	+	all_hematologic(4;0.166)		429			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1285C>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726029	0.48833	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79033	-1.17;-1.2;-1.23;-0.02;0.3	4.95	2.48	0.30137	.	.	.	.	.	T	0.79753	0.4500	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.999	P;P;P;P;P	0.60012	0.867;0.623;0.804;0.543;0.642	T	0.66344	-0.5947	9	0.51188	T	0.08	.	6.496	0.22142	0.2903:0.5374:0.1724:0.0	.	252;288;429;377;429	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	W	429;429;377;429;288;252	ENSP00000311545:R429W;ENSP00000370811:R377W;ENSP00000250572:R429W;ENSP00000370814:R288W;ENSP00000405974:R252W	ENSP00000250572:R429W	R	+	1	2	EMR1	6864826	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.002000	0.13061	2.301000	0.77427	0.561000	0.74099	CGG		0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			T	6913826	C	T	6913826	3	4	67	1	0	0	0	0	1	0	0	0	5104	875	31	2	1327	2	EMR1	19	6913826	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	233599	6913826	52215157	74	4496											
GMIP	51291	broad.mit.edu	37	chr19	19745707	19745707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcacagccgctccacaCggacccgggacccgctgacc	7	3	11	20	4	0	1	0	1	0	0	1	3	1	3	6	3	1	3	6	3	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:19745707C>T	ENST00000203556.4	-	17	1918	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.R565H|GMIP_ENST00000587238.1_Missense_Mutation_p.R568H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	594	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGCTCCACACGGACCCGGGA	0.592																																						uc002nnd.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1780-1782)cGt>cAt		Homo sapiens GEM interacting protein (GMIP), mRNA.							44	49	47					19																	19745707		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745707C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1781G>A	19.37:g.19745707C>T	ENSP00000203556:p.Arg594His					GMIP_uc010xrb.2_Missense_Mutation_p.R568H|GMIP_uc010xrc.2_Missense_Mutation_p.R565H	p.R594H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			16	1898	-			594			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1781G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623798	0.87460	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.20069	2.1;2.1	5.07	5.07	0.68467	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.41001	D	0.000961	T	0.44912	0.1316	M	0.72624	2.21	0.80722	D	1	D;P;D	0.89917	1.0;0.889;1.0	D;P;D	0.97110	1.0;0.771;1.0	T	0.22661	-1.0210	10	0.27082	T	0.32	-13.5808	15.9259	0.79615	0.0:1.0:0.0:0.0	.	565;568;594	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	H	594;565	ENSP00000203556:R594H;ENSP00000397075:R565H	ENSP00000203556:R594H	R	-	2	0	GMIP	19606707	1.000000	0.71417	0.682000	0.30024	0.854000	0.48673	7.426000	0.80270	2.359000	0.80004	0.561000	0.74099	CGT		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		T	19745707	C	T	19745707	3	4	67	1	0	0	0	0	1	0	0	0	6491	536	19	1	1151	1	GMIP	19	19745707	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	12831881	19745707	39383276	75	4497											
CD22	933	broad.mit.edu	37	chr19	35837554	35837554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttggggtcggggagcGgcctcaggcacaagaaaatg	10	6	16	9	2	1	1	1	0	0	1	2	2	1	2	2	6	1	2	2	6	3	1	rs571005886	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:35837554G>A	ENST00000085219.5	+	14	2564	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	CD22_ENST00000419549.2_Missense_Mutation_p.R661Q|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Missense_Mutation_p.R656Q|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.R648Q|CD22_ENST00000594250.1_Missense_Mutation_p.R656Q|CD22_ENST00000536635.2_Missense_Mutation_p.R745Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	833					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCGGGGAGCGGCCTCAGGCA	0.547													G|||	2	0.000399361	0	0	5008	,	,		17199	0		0	False		,,,				2504	0.002				Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2497-2499)cGg>cAg		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						55	45	48					19																	35837554		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837554G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2498G>A	19.37:g.35837554G>A	ENSP00000085219:p.Arg833Gln					CD22_uc010edu.3_Missense_Mutation_p.R745Q|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R656Q|CD22_uc010xst.2_Missense_Mutation_p.R661Q|CD22_uc010edx.3_Non-coding_Transcript	p.R833Q	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		13	2582	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		833					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2498G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324866	0.95708	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.59906	0.74;0.3;0.23;0.5;0.81	4.58	4.58	0.56647	.	0.000000	0.45126	D	0.000388	T	0.67031	0.2850	M	0.76574	2.34	0.32246	N	0.572008	D;D;D;D	0.69078	0.957;0.992;0.959;0.997	B;P;B;P	0.53006	0.207;0.605;0.207;0.715	T	0.77294	-0.2641	10	0.72032	D	0.01	.	12.8196	0.57685	0.0:0.0:1.0:0.0	.	661;745;833;656	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Q	833;745;656;648;661	ENSP00000085219:R833Q;ENSP00000442279:R745Q;ENSP00000339349:R656Q;ENSP00000270311:R648Q;ENSP00000403822:R661Q	ENSP00000085219:R833Q	R	+	2	0	CD22	40529394	0.772000	0.28567	0.984000	0.44739	0.758000	0.43043	2.990000	0.49401	2.410000	0.81850	0.461000	0.40582	CGG		0.547	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		A	35837554	G	A	35837554	3	1	67	1	0	0	0	0	1	0	0	0	2985	1116	39	2	2548	2	CD22	19	35837554	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	16091847	35837554	23291429	76	4498											
SIPA1L3	23094	broad.mit.edu	37	chr19	38633315	38633315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccacccccggttcGgccacctacgtgagatacaa	9	8	8	16	3	1	1	0	1	1	1	3	2	1	1	5	2	3	2	5	2	3	4	rs142547881		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:38633315G>T	ENST00000222345.6	+	12	4007	c.3498G>T	c.(3496-3498)tcG>tcT	p.S1166S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1166					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCCCGGTTCGGCCACCTACG	0.557											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3496-3498)tcG>tcT		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.							170	165	167					19																	38633315		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633315G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3498G>T	19.37:g.38633315G>T			OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.S1166S	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		11	4007	+			1166					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3498G>T	CCDS33007.1																																																																																				0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38633315	G	T	38633315	2	4	67	1	0	0	0	0	0	0	0	1	14331	1103	39	5		5	SIPA1L3	19	38633315	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	2795761	38633315	20495668	77	4499											
LGALS13	29124	broad.mit.edu	37	chr19	40097889	40097889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatggcatacgcatttaCggctttgtccatcgaatccc	9	12	8	12	3	1	0	1	0	0	0	4	1	3	0	2	2	2	3	2	2	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:40097889C>T	ENST00000221797.4	+	4	375	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	110	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACGCATTTACGGCTTTGTCC	0.463																																						uc002omb.3																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(328-330)taC>taT		Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.							190	149	163					19																	40097889		2203	4300	6503	SO:0001819	synonymous_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097889C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.330C>T	19.37:g.40097889C>T							p.Y110Y	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		3	370	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		110			Galectin.		C5HZ15	Silent	SNP	ENST00000221797.4	37	c.330C>T	CCDS33024.1																																																																																				0.463	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		T	40097889	C	T	40097889	2	4	67	1	0	0	0	0	0	0	0	1	8740	547	19	1		1	LGALS13	19	40097889	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	1464574	40097889	19031094	78	4500											
RUVBL2	10856	broad.mit.edu	37	chr19	49507675	49507675	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagacggccatcgccatgGgtaagaaacctcccagggca	12	4	13	12	2	0	2	0	0	0	2	2	3	1	3	4	4	1	2	4	4	3	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:49507675G>A	ENST00000595090.1	+	4	729	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	RUVBL2_ENST00000413176.2_Splice_Site_p.G44S|RUVBL2_ENST00000601968.1_Splice_Site_p.G44S	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	89					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCGCCATGGGTAAGAAACC	0.582																																						uc002plr.1																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.e4+1		Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.							42	46	45					19																	49507675		1931	4133	6064	SO:0001630	splice_region_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507675G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.265+1G>A	19.37:g.49507675G>A						RUVBL2_uc010yab.2_Splice_Site_p.G89_splice|RUVBL2_uc002pls.1_Splice_Site|RUVBL2_uc010emn.1_Splice_Site_p.G44_splice	p.G89_splice	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	278	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	89					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.265_splice	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058045	0.93846	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.55760	0.5;0.75	5.14	5.14	0.70334	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.051987	0.85682	D	0.000000	T	0.79753	0.4500	M	0.94142	3.5	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69824	0.966;0.95;0.96	D	0.85292	0.1068	10	0.66056	D	0.02	-33.181	16.482	0.84160	0.0:0.0:1.0:0.0	.	89;89;55	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	S	89;44	ENSP00000221413:G89S;ENSP00000413890:G44S	ENSP00000221413:G89S	G	+	1	0	RUVBL2	54199487	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	8.639000	0.91023	2.587000	0.87381	0.561000	0.74099	GGC		0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		Missense_Mutation	A	49507675	G	A	49507675	5	1	67	1	0	0	0	0	0	0	1	0	13753	1246	43	3	279	3	RUVBL2	19	49507675	Splice_Site	SNP	G	TCGA-06-0877-01A-01W-0424-08	9409786	49507675	9621308	79	4501											
ZNF534	147658	broad.mit.edu	37	chr19	52942496	52942496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggaattcacaccttgcgCgacataggaaaattcatact	13	10	8	10	3	2	0	2	0	0	0	3	3	2	2	1	2	2	0	1	2	5	5	rs200476034	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:52942496C>T	ENST00000332323.6	+	4	1883	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R595*	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACACCTTGCGCGACATAGGAA	0.423													C|||	3	0.000599042	0.0023	0	5008	,	,		20510	0		0	False		,,,				2504	0					uc002pzk.3																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1822-1824)Cga>Tga		Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.																																				SO:0001587	stop_gained	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942496C>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1822C>T	19.37:g.52942496C>T	ENSP00000327538:p.Arg608*					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Nonsense_Mutation_p.R595*	p.R608*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			3	1889	+			608					Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	c.1822C>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558436	0.45590	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.72	-3.44	0.04796	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	5.4312	0.16454	0.469:0.2188:0.3122:0.0	.	.	.	.	X	608;595;607	.	ENSP00000327538:R608X	R	+	1	2	ZNF534	57634308	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-9.365000	0.00012	-1.735000	0.01353	-0.747000	0.03512	CGA		0.423	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		T	52942496	C	T	52942496	4	4	67	1	0	0	0	0	0	1	0	0	17970	760	27	1	1836	1	ZNF534	19	52942496	Nonsense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	3434821	52942496	6186487	80	4502											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701664	56701664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctgggtgactgacCgggcccgcagggcctgggga	5	6	18	12	2	1	2	0	2	1	0	1	3	1	3	4	6	0	1	4	6	0	0	rs367587385		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:56701664C>T	ENST00000586855.2	-	5	1333	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	ZSCAN5B_ENST00000358992.3_Silent_p.P340P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	340					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGACTGACCGGGCCCGCAG	0.542																																						uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1018-1020)ccG>ccA		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.		C		5,4399	6.2+/-15.9	0,5,2197	79	85	83		1020	-3.9	0	19		83	0,8600		0,0,4300	no	coding-synonymous	ZSCAN5B	NM_001080456.2		0,5,6497	TT,TC,CC		0.0,0.1135,0.0384		340/496	56701664	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701664C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1020G>A	19.37:g.56701664C>T							p.P340P	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			3	1020	-			340						Silent	SNP	ENST00000586855.2	37	c.1020G>A	CCDS46203.1																																																																																				0.542	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		T	56701664	C	T	56701664	2	4	67	1	0	0	0	0	0	0	0	1	18236	639	23	2		2	ZSCAN5B	19	56701664	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	3759168	56701664	2427319	81	4503											
RPS5	6193	broad.mit.edu	37	chr19	58904370	58904370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtgaaggagaagtatGccaagtacctgcctcacagt	12	9	11	9	0	1	2	1	1	0	1	1	3	1	2	3	1	4	3	3	1	5	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:58904370G>T	ENST00000596046.1	+	2	985	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	RPS5_ENST00000598495.1_Missense_Mutation_p.A67S|RPS5_ENST00000598098.1_Intron|RPS5_ENST00000601521.1_Missense_Mutation_p.A46S|RPS5_ENST00000196551.3_Missense_Mutation_p.A46S			P46782	RS5_HUMAN	ribosomal protein S5	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGAGAAGTATGCCAAGTACCT	0.557																																						uc002qsn.3																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(136-138)Gcc>Tcc		Homo sapiens ribosomal protein S5 (RPS5), mRNA.							39	33	35					19																	58904370		2203	4300	6503	SO:0001583	missense	6193				endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	g.chr19:58904370G>T	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.136G>T	19.37:g.58904370G>T	ENSP00000472985:p.Ala46Ser						p.A46S	NM_001009	NP_001000	P46782	RS5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	2	208	+		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	46					B2R4T2|Q96BN0	Missense_Mutation	SNP	ENST00000596046.1	37	c.136G>T	CCDS12978.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752311	0.69533	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.53	4.53	0.55603	Ribosomal protein S7 domain (2);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.45698	1.435	0.80722	D	1	B	0.14805	0.011	B	0.22386	0.039	T	0.59947	-0.7358	9	0.72032	D	0.01	-24.5951	15.5578	0.76213	0.0:0.0:1.0:0.0	.	46	P46782	RS5_HUMAN	S	46	.	ENSP00000196551:A46S	A	+	1	0	RPS5	63596182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.303000	0.89955	2.464000	0.83262	0.655000	0.94253	GCC		0.557	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		T	58904370	G	T	58904370	3	4	67	1	0	0	0	0	1	0	0	0	13648	1319	46	5	142	5	RPS5	19	58904370	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	2202706	58904370	224613	82	4504											
KIF16B	55614	broad.mit.edu	37	chr20	16407806	16407806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacagagcactgggaccCactcaggggtatcagagtca	12	7	11	11	0	4	2	4	0	0	2	4	3	4	3	1	3	1	2	1	3	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:16407806C>A	ENST00000354981.2	-	15	1712	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	KIF16B_ENST00000408042.1_Missense_Mutation_p.G519W|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.G519W	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	519	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTGGGACCCACTCAGGGGT	0.428																																						uc002wpg.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1555-1557)Ggg>Tgg		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							115	119	118					20																	16407806		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407806C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1555G>T	20.37:g.16407806C>A	ENSP00000347076:p.Gly519Trp					KIF16B_uc010gch.2_Missense_Mutation_p.G519W|KIF16B_uc010gci.2_Missense_Mutation_p.G519W|KIF16B_uc010gcj.2_Missense_Mutation_p.G519W	p.G519W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			14	1714	-			519			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1555G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887907	0.72410	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.86956	-2.19;-2.19;-2.19	5.62	4.68	0.58851	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.165406	0.52532	D	0.000074	D	0.93930	0.8057	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.995;0.997	D	0.94788	0.7959	10	0.87932	D	0	.	14.397	0.67018	0.0:0.9291:0.0:0.0709	.	519;519;519;519	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	W	519	ENSP00000347076:G519W;ENSP00000347995:G519W;ENSP00000384164:G519W	ENSP00000347076:G519W	G	-	1	0	KIF16B	16355806	0.993000	0.37304	0.999000	0.59377	0.977000	0.68977	3.253000	0.51469	1.380000	0.46344	0.650000	0.86243	GGG		0.428	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16407806	C	A	16407806	3	1	67	1	0	0	0	0	1	0	0	0	8278	594	21	5	2446	5	KIF16B	20	16407806	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		16407806	46617714	83	4505											
DIDO1	11083	broad.mit.edu	37	chr20	61542712	61542712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcatgctcctcctgcCgcggcgccgcgcaatggtca	6	6	13	16	5	1	0	1	0	0	0	3	1	3	0	4	3	2	3	4	3	1	0	rs138139875		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:61542712C>T	ENST00000266070.4	-	3	578	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	DIDO1_ENST00000395340.1_Missense_Mutation_p.G85S|DIDO1_ENST00000395343.1_Missense_Mutation_p.G85S|DIDO1_ENST00000266071.5_Missense_Mutation_p.G85S|DIDO1_ENST00000354665.4_Missense_Mutation_p.G85S|DIDO1_ENST00000370368.1_Missense_Mutation_p.G85S|DIDO1_ENST00000370366.1_Missense_Mutation_p.G85S|DIDO1_ENST00000395335.2_Missense_Mutation_p.G85S|DIDO1_ENST00000370371.4_Missense_Mutation_p.G85S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	85					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCTGCCGCGGCGCCGC	0.701																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(253-255)Ggc>Agc		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4404		0,0,2202	27	26	26		253,253,253,253,253,253	5.7	0.7	20	dbSNP_134	26	1,8595		0,1,4297	no	missense,missense,missense,missense,missense,missense	DIDO1	NM_001193369.1,NM_001193370.1,NM_022105.4,NM_033081.2,NM_080796.3,NM_080797.3	56,56,56,56,56,56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	85/2241,85/1190,85/563,85/2241,85/563,85/1190	61542712	1,12999	2202	4298	6500	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542712C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.253G>A	20.37:g.61542712C>T	ENSP00000266070:p.Gly85Ser					DIDO1_uc002yds.2_Missense_Mutation_p.G85S|DIDO1_uc002ydt.2_Missense_Mutation_p.G85S|DIDO1_uc002ydu.2_Missense_Mutation_p.G85S|DIDO1_uc002ydv.2_Missense_Mutation_p.G85S|DIDO1_uc002ydw.2_Missense_Mutation_p.G85S|DIDO1_uc002ydx.2_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	p.G85S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN			2	565	-	Breast(26;5.68e-08)		85					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.253G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587407	0.46110	0.0	1.16E-4	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18810	3.0;3.0;2.71;2.71;2.19;2.19;2.19;2.21;2.21	5.71	5.71	0.89125	.	0.000000	0.40728	U	0.001022	T	0.46776	0.1410	L	0.61036	1.89	0.37674	D	0.923234	D;D;D;D	0.89917	1.0;0.997;0.973;0.992	D;P;B;P	0.97110	1.0;0.853;0.437;0.664	T	0.37220	-0.9715	10	0.42905	T	0.14	-35.9759	19.8599	0.96779	0.0:1.0:0.0:0.0	.	85;85;85;85	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	S	85	ENSP00000266070:G85S;ENSP00000378752:G85S;ENSP00000378749:G85S;ENSP00000378744:G85S;ENSP00000359397:G85S;ENSP00000359394:G85S;ENSP00000346692:G85S;ENSP00000359391:G85S;ENSP00000266071:G85S	ENSP00000266070:G85S	G	-	1	0	DIDO1	61013157	0.669000	0.27502	0.714000	0.30535	0.015000	0.08874	1.400000	0.34577	2.710000	0.92621	0.655000	0.94253	GGC		0.701	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61542712	C	T	61542712	3	4	67	1	0	0	0	0	1	0	0	0	4522	652	23	2	6655	2	DIDO1	20	61542712	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	45134906	61542712	1482808	84	4506											
COL6A1	1291	broad.mit.edu	37	chr21	47412280	47412280	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcttcatcccaggggAacccaggacctgacggtgcc	7	9	11	14	1	2	1	1	1	1	0	4	3	3	3	4	4	2	1	4	4	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr21:47412280A>T	ENST00000361866.3	+	18	1354	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	414	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ATCCCAGGGGAACCCAGGACC	0.637																																						uc002zhu.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1240-1242)Aac>Tac		Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	Palifermin(DB00039)						41	46	44					21																	47412280		2200	4299	6499	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47412280A>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1240A>T	21.37:g.47412280A>T	ENSP00000355180:p.Asn414Tyr						p.N414Y	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	17	1342	+	all_hematologic(128;0.24)		414			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1240A>T	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554153	0.27739	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.96491	-4.03	4.21	4.21	0.49690	.	0.545499	0.17979	N	0.155593	D	0.92051	0.7481	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.55161	0.77	D	0.84862	0.0820	10	0.59425	D	0.04	-17.3494	2.9001	0.05702	0.6223:0.0:0.1894:0.1883	.	414	P12109	CO6A1_HUMAN	Y	414	ENSP00000355180:N414Y	ENSP00000355180:N414Y	N	+	1	0	COL6A1	46236708	0.849000	0.29639	0.594000	0.28785	0.708000	0.40852	2.812000	0.47994	1.553000	0.49476	0.383000	0.25322	AAC		0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		T	47412280	A	T	47412280	3	4	67	1	0	0	0	0	1	0	0	0	3699	246	9	5	1310	5	COL6A1	21	47412280	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08		47412280	717615	85	4507											
HIRA	7290	broad.mit.edu	37	chr22	19318996	19318996	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcgagctgttcctgAcactcggtgaagaggcgctg	8	9	15	9	3	0	3	0	2	0	1	3	5	1	4	1	3	1	3	1	3	1	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:19318996A>G	ENST00000263208.5	-	25	3277	c.3021T>C	c.(3019-3021)tgT>tgC	p.C1007C	HIRA_ENST00000541063.1_Silent_p.C963C|HIRA_ENST00000340170.4_Silent_p.C800C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	1007	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTGTTCCTGACACTCGGTGA	0.617																																						uc002zpf.1																			0		p.C1007F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(3019-3021)tgT>tgC		Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.							95	73	80					22																	19318996		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19318996A>G	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.3021T>C	22.37:g.19318996A>G						HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.2_Silent_p.C963C	p.C1007C	NM_003325	NP_003316	P54198	HIRA_HUMAN			24	3241	-	Colorectal(54;0.0993)		1007			Interaction with histone H4.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.3021T>C	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.414503	0.25465	.	.	ENSG00000100084	ENST00000539600	.	.	.	4.89	-3.29	0.05017	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60459	-0.7259	5	0.30854	T	0.27	-9.3467	13.0224	0.58796	0.4965:0.0:0.5035:0.0	.	.	.	.	P	487	.	ENSP00000440634:S487P	S	-	1	0	HIRA	17698996	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	2.145000	0.42207	-0.586000	0.05898	0.528000	0.53228	TCA		0.617	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		G	19318996	A	G	19318996	2	3	67	1	0	0	0	0	0	0	0	1	7120	273	10	4		4	HIRA	22	19318996	Silent	SNP	A	TCGA-06-0877-01A-01W-0424-08		19318996	31985570	86	4508											
VPREB1	7441	broad.mit.edu	37	chr22	22599423	22599423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccttggaaccacaatcCgcctcacctgcaccctgagg	8	6	9	18	2	1	1	1	1	0	0	2	2	2	2	6	3	2	1	6	3	2	1	rs369071851		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:22599423C>T	ENST00000403807.3	+	2	251	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	VPREB1_ENST00000302273.2_Missense_Mutation_p.R37C			P12018	VPREB_HUMAN	pre-B lymphocyte 1	38	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACCACAATCCGCCTCACCTG	0.632													c|||	1	0.000199681	0	0	5008	,	,		17642	0		0	False		,,,				2504	0.001					uc002zvx.1																			0				large_intestine(1)|liver(1)|lung(6)|skin(1)	9						c.(112-114)Cgc>Tgc		Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	88	89		112	0.7	0	22		89	0,8600		0,0,4300	no	missense	VPREB1	NM_007128.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	38/146	22599423	1,13005	2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599423C>T	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.112C>T	22.37:g.22599423C>T	ENSP00000385361:p.Arg38Cys					abParts_uc021wml.1_Intron	p.R38C	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	138	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	38			Framework-1.|Ig-like V-type.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.112C>T	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	c	14.54	2.565672	0.45694	2.27E-4	0.0	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.46819	0.86;0.86	3.61	0.68	0.17980	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.473004	0.18193	N	0.148755	T	0.68961	0.3058	M	0.91717	3.235	0.09310	N	0.999992	D	0.76494	0.999	D	0.66084	0.941	T	0.60464	-0.7258	10	0.87932	D	0	.	9.5624	0.39378	0.6461:0.3539:0.0:0.0	.	38	P12018	VPREB_HUMAN	C	38;37	ENSP00000385361:R38C;ENSP00000304590:R37C	ENSP00000304590:R37C	R	+	1	0	VPREB1	20929423	0.005000	0.15991	0.002000	0.10522	0.080000	0.17528	1.117000	0.31234	0.311000	0.23014	-0.194000	0.12790	CGC		0.632	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			T	22599423	C	T	22599423	3	4	67	1	0	0	0	0	1	0	0	0	17183	652	23	2	118	2	VPREB1	22	22599423	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	3280427	22599423	28705143	87	4509											
P2RY4	5030	broad.mit.edu	37	chrX	69479145	69479145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatagaaaagaaagcggacGaacttgcagatctcagtgcc	16	6	10	9	2	1	3	1	0	1	3	2	5	1	4	1	1	4	1	1	1	6	2	rs146718292	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chrX:69479145G>A	ENST00000374519.2	-	1	509	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	110					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542																																						uc004dxz.1																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(328-330)ttC>ttT		Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.		G		0,3835		0,0,0,1632,571	85	70	75		330	-5.6	0.1	X	dbSNP_134	75	1,6727		0,0,1,2428,1871	no	coding-synonymous	P2RY4	NM_002565.3		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		110/366	69479145	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69479145G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.330C>T	X.37:g.69479145G>A							p.F110F	NM_002565	NP_002556	P51582	P2RY4_HUMAN			0	510	-			110					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.330C>T	CCDS14398.1																																																																																				0.542	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		A	69479145	G	A	69479145	2	1	67	1	0	0	0	0	0	0	0	1	11353	1049	37	2		2	P2RY4	23	69479145	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		69479145	85791415	88	4510											
KAZ	23254	broad.mit.edu	37	chr1	15428142	15428142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttcagaaccacctggttGatgggcggatgctgaattcc	8	11	11	11	1	1	3	1	2	0	1	2	4	2	4	4	3	2	2	4	3	2	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:15428142G>A	ENST00000376030.2	+	11	1945	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	551	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCACCTGGTTGATGGGCGGAT	0.577																																						uc001avm.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(1651-1653)Gat>Aat		Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.							62	45	51					1																	15428142		2203	4298	6501	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15428142G>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1651G>A	1.37:g.15428142G>A	ENSP00000365198:p.Asp551Asn					KAZN_uc001avs.4_5'UTR	p.D551N	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			10	1932	+			551			SAM 2.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.1651G>A	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164743	0.78339	.	.	ENSG00000189337	ENST00000376030	T	0.57595	0.39	4.53	3.59	0.41128	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.168708	0.34178	N	0.004198	T	0.62816	0.2459	M	0.80028	2.48	0.80722	D	1	P	0.47484	0.896	P	0.50934	0.654	T	0.66551	-0.5895	10	0.72032	D	0.01	-12.8022	10.3848	0.44134	0.0:0.2002:0.7998:0.0	.	551	Q674X7	KAZRN_HUMAN	N	551	ENSP00000365198:D551N	ENSP00000365198:D551N	D	+	1	0	KAZN	15300729	1.000000	0.71417	0.061000	0.19648	0.994000	0.84299	8.724000	0.91462	0.864000	0.35578	0.467000	0.42956	GAT		0.577	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		A	15428142	G	A	15428142	3	1	68	1	0	0	0	0	1	0	0	0	7988	1290	45	3	1949	3	KAZ	1	15428142	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		15428142	233822479	1	4511											
HSPG2	3339	broad.mit.edu	37	chr1	22206668	22206668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgcaaccagagcaggtgcCcaggtagggcccaccaggca	11	4	13	13	0	0	1	0	0	0	1	0	1	0	1	4	4	4	4	4	4	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:22206668C>T	ENST00000374695.3	-	17	2354	c.2275G>A	c.(2275-2277)Ggc>Agc	p.G759S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	759	Laminin EGF-like 1; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGCAGGTGCCCAGGTAGGGC	0.577																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2278-2280)Ggc>Agc		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						54	56	55					1																	22206668		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22206668C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2275G>A	1.37:g.22206668C>T	ENSP00000363827:p.Gly759Ser					HSPG2_uc001bfj.3_Missense_Mutation_p.G759S	p.G760S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	16	2318	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	759			Laminin EGF-like 1; second part.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2278G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304483	0.95601	.	.	ENSG00000142798	ENST00000374695	T	0.79033	-1.23	5.38	5.38	0.77491	EGF-like, laminin (1);	0.000000	0.40640	N	0.001041	D	0.87406	0.6169	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88432	0.3036	10	0.72032	D	0.01	.	16.6294	0.85029	0.0:1.0:0.0:0.0	.	759	P98160	PGBM_HUMAN	S	759	ENSP00000363827:G759S	ENSP00000363827:G759S	G	-	1	0	HSPG2	22079255	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.164000	0.77533	2.527000	0.85204	0.655000	0.94253	GGC		0.577	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22206668	C	T	22206668	3	4	68	1	0	0	0	0	1	0	0	0	7430	623	22	3	11224	3	HSPG2	1	22206668	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	6778526	22206668	227043953	2	4512											
GBP5	115362	broad.mit.edu	37	chr1	89729595	89729595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggatgcttccaggttccGtttacaaatgtcattctgtt	8	15	9	9	2	2	0	1	0	1	0	4	2	4	1	2	2	2	4	2	2	2	6			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:89729595G>A	ENST00000370459.3	-	8	1313	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GBP5_ENST00000343435.5_Missense_Mutation_p.R396W|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	396						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCAGGTTCCGTTTACAAATG	0.378																																						uc001dnc.3																			0		p.R396Q(2)|p.R396L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1186-1188)Cgg>Tgg		Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.							144	148	147					1																	89729595		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729595G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1186C>T	1.37:g.89729595G>A	ENSP00000359488:p.Arg396Trp					GBP5_uc001dnd.3_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	p.R396W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1723	-			396					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1186C>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483389	0.63962	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02216	4.39;4.39;4.39	5.12	1.87	0.25490	Guanylate-binding protein, C-terminal (3);	0.629498	0.16323	N	0.219453	T	0.02418	0.0074	L	0.49778	1.585	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.35674	-0.9779	10	0.87932	D	0	-0.6986	12.9102	0.58175	0.0:0.0:0.4898:0.5102	.	396	Q96PP8	GBP5_HUMAN	W	396	ENSP00000340396:R396W;ENSP00000359488:R396W;ENSP00000403010:R396W	ENSP00000340396:R396W	R	-	1	2	GBP5	89502183	0.434000	0.25570	0.009000	0.14445	0.005000	0.04900	2.474000	0.45154	0.290000	0.22444	-0.333000	0.08304	CGG		0.378	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		A	89729595	G	A	89729595	3	1	68	1	0	0	0	0	1	0	0	0	6277	1144	40	1	590	1	GBP5	1	89729595	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	67522927	89729595	159521026	3	4513											
AMY2B	280	broad.mit.edu	37	chr1	104122114	104122114	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaattcatgctgaatctAaattataaaatttaaaatta	18	16	3	4	0	2	1	1	1	1	0	2	1	2	1	0	0	2	2	0	0	10	8			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:104122114A>C	ENST00000361355.4	+	12	2144	c.1528A>C	c.(1528-1530)Aaa>Caa	p.K510Q	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	510					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCTGAATCtaaattataaaa	0.284																																						uc010ouo.2																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1528-1530)Aaa>Caa		Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.							90	99	96					1																	104122114		2202	4299	6501	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104122114A>C	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1528A>C	1.37:g.104122114A>C	ENSP00000354610:p.Lys510Gln					AMY2B_uc001duq.3_Missense_Mutation_p.K510Q|AMY2B_uc001dur.3_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	p.K510Q	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	21	3232	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	510					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1528A>C	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.784649	0.70222	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.14	4.14	0.48551	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81765	-0.0783	9	0.87932	D	0	.	13.1321	0.59389	1.0:0.0:0.0:0.0	.	510	P19961	AMY2B_HUMAN	Q	510	.	ENSP00000354610:K510Q	K	+	1	0	AMY2B	103923637	1.000000	0.71417	0.236000	0.24074	0.861000	0.49209	9.314000	0.96306	1.644000	0.50603	0.477000	0.44152	AAA		0.284	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		C	104122114	A	C	104122114	3	2	68	1	0	0	0	0	1	0	0	0	595	363	13	5	1566	5	AMY2B	1	104122114	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	14392519	104122114	145128507	4	4514											
FCRL3	115352	broad.mit.edu	37	chr1	157667597	157667597	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattaggaagctgtttTccatccttgtagtaaacctt	11	16	6	8	0	0	0	0	0	0	0	2	1	2	1	3	1	3	4	3	1	7	9			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:157667597T>C	ENST00000368184.3	-	5	702	c.411A>G	c.(409-411)ggA>ggG	p.G137G	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.G137G|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	137	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAAGCTGTTTTCCATCCTTGT	0.363																																						uc001fqz.4																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(409-411)ggA>ggG		Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.							174	170	171					1																	157667597		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667597T>C	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.411A>G	1.37:g.157667597T>C						FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.G137G|FCRL3_uc001frc.1_Silent_p.G137G	p.G137G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			4	703	-	all_hematologic(112;0.0378)		137			Ig-like C2-type 2.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.411A>G	CCDS1167.1																																																																																				0.363	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		C	157667597	T	C	157667597	2	2	68	1	0	0	0	0	0	0	0	1	5796	1770	62	4		4	FCRL3	1	157667597	Silent	SNP	T	TCGA-06-0878-01A-01W-0424-08	53545483	157667597	91583024	5	4515											
ZNF692	55657	broad.mit.edu	37	chr1	249148230	249148230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagacttctggtggatGtgctggtactttttgtggtg	7	15	15	4	0	1	2	0	0	1	2	1	4	1	3	0	4	2	2	0	4	2	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:249148230G>T	ENST00000306601.4	-	10	1225	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	ZNF692_ENST00000366469.5_Missense_Mutation_p.H352Q|ZNF692_ENST00000451251.1_Missense_Mutation_p.H358Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.H308Q|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000366471.3_Missense_Mutation_p.H308Q	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTGGTGGATGTGCTGGTACT	0.512																																						uc001ifc.2																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(1057-1059)caC>caA		Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.							106	108	107					1																	249148230		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249148230G>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1059C>A	1.37:g.249148230G>T	ENSP00000305483:p.His353Gln					ZNF692_uc001iez.2_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.2_Missense_Mutation_p.H149Q|ZNF692_uc010pzr.2_Missense_Mutation_p.H358Q|ZNF692_uc001iff.2_Missense_Mutation_p.H308Q	p.H353Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		9	1270	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	353					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.1059C>A	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.524087|2.524087	0.44866|0.44866	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T|T;T;T;T;T	0.26660|0.69806	1.72|-0.43;-0.43;-0.43;-0.43;-0.43	4.28|4.28	-0.898|-0.898	0.10550|0.10550	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000|0.000000	0.52532|0.52532	D|D	0.000062|0.000062	D|D	0.82728|0.82728	0.5100|0.5100	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.998;0.998;1.0;0.999	.|D;D;D;D;D	.|0.87578	.|0.998;0.988;0.988;0.998;0.993	T|T	0.81771|0.81771	-0.0780|-0.0780	8|10	0.87932|0.87932	D|D	0|0	-22.5914|-22.5914	8.3581|8.3581	0.32342|0.32342	0.504:0.0:0.496:0.0|0.504:0.0:0.496:0.0	.|.	.|358;308;181;353;86	.|B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.|.;.;.;ZN692_HUMAN;.	N|Q	107|353;308;181;308;352;358	ENSP00000431582:H107N|ENSP00000305483:H353Q;ENSP00000390044:H308Q;ENSP00000355427:H308Q;ENSP00000355425:H352Q;ENSP00000391200:H358Q	ENSP00000431582:H107N|ENSP00000305483:H353Q	H|H	-|-	1|3	0|2	ZNF692|ZNF692	247114853|247114853	0.666000|0.666000	0.27475|0.27475	0.995000|0.995000	0.50966|0.50966	0.587000|0.587000	0.36485|0.36485	-0.045000|-0.045000	0.12003|0.12003	-0.042000|-0.042000	0.13535|0.13535	-0.140000|-0.140000	0.14226|0.14226	CAT|CAC		0.512	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		T	249148230	G	T	249148230	3	4	68	1	0	0	0	0	1	0	0	0	18094	1368	48	5	512	5	ZNF692	1	249148230	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	91480633	249148230	102391	6	4516											
ALLC	55821	broad.mit.edu	37	chr2	3743415	3743415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcttttgggggtgtctGtgtaggatttagtaatgcta	7	16	13	5	1	1	0	0	0	1	0	2	1	1	1	0	3	1	4	0	3	4	7			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:3743415G>T	ENST00000252505.3	+	8	782	c.620G>T	c.(619-621)tGt>tTt	p.C207F	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	226					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGGGTGTCTGTGTAGGATTT	0.448										HNSCC(21;0.051)																												uc010ewt.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(619-621)tGt>tTt		Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.							81	81	81					2																	3743415		1866	4099	5965	SO:0001583	missense	55821						allantoicase activity	g.chr2:3743415G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.620G>T	2.37:g.3743415G>T	ENSP00000252505:p.Cys207Phe	HNSCC(21;0.051)				ALLC_uc002qyf.3_5'UTR	p.C207F	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	7	781	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	226					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.620G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832093	0.71258	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	5.42	0.78866	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.86028	2.79	0.58432	D	0.999999	D	0.67145	0.996	D	0.69307	0.963	D	0.85568	0.1232	9	0.66056	D	0.02	-0.0227	16.7056	0.85371	0.0:0.0:1.0:0.0	.	226	Q8N6M5	ALLC_HUMAN	F	207	.	ENSP00000252505:C207F	C	+	2	0	ALLC	3721290	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.246000	0.78247	2.554000	0.86153	0.561000	0.74099	TGT		0.448	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			T	3743415	G	T	3743415	3	4	68	1	0	0	0	0	1	0	0	0	534	1377	48	5	646	5	ALLC	2	3743415	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		3743415	239455958	7	4517											
TMEM182	130827	broad.mit.edu	37	chr2	103379127	103379133	+	Frame_Shift_Del	DEL	ATTTGGA	ATTTGGA	-																															tggaagagaatgactccaatAtttggaagttctggtacagt																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:103379127_103379133delATTTGGA	ENST00000412401.2	+	2	419_425	c.214_220delATTTGGA	c.(214-222)atttggaagfs	p.IWK72fs	TMEM182_ENST00000409173.1_Frame_Shift_Del_p.IWK29fs|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_5'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	72						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGACTCCAATATTTGGAAGTTCTGGTA	0.362																																						uc010fjb.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(214-222)atttggaagfs		Homo sapiens transmembrane protein 182 (TMEM182), mRNA.																																				SO:0001589	frameshift_variant	130827					integral to membrane		g.chr2:103379127_103379133delATTTGGA	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.214_220delATTTGGA	2.37:g.103379127_103379133delATTTGGA	ENSP00000394178:p.Ile72fs					TMEM182_uc002tcc.4_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.4_5'UTR	p.I72fs	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN			1	401_407	+			72					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Frame_Shift_Del	DEL	ENST00000412401.2	37	c.214_220delATTTGGA	CCDS2064.1																																																																																				0.362	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		-	103379133	ATTTGGA	-	103379127	7	5	68	1	0	1	0	1	0	0	0	0	16098	449	16	0	220	0	TMEM182	2	103379127	Frame_Shift_Del	DEL	ATTTGGA	TCGA-06-0878-01A-01W-0424-08	99635712	103379127	139820246	8	4518											
ITGB6	3694	broad.mit.edu	37	chr2	161025770	161025770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcgaagatcaataacaCgttgttttgtaccagtttat	13	14	7	7	2	1	1	1	0	0	1	1	2	1	1	1	0	4	4	1	0	6	8			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:161025770C>T	ENST00000283249.2	-	7	1207	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.V324M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V324M|ITGB6_ENST00000428609.2_Missense_Mutation_p.V282M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	324	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAATAACACGTTGTTTTGT	0.294																																						uc002ubh.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(970-972)Gtg>Atg		Homo sapiens integrin, beta 6 (ITGB6), mRNA.							135	131	132					2																	161025770		2202	4300	6502	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161025770C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.970G>A	2.37:g.161025770C>T	ENSP00000283249:p.Val324Met					ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	p.V324M	NM_000888	NP_000879	P18564	ITB6_HUMAN			6	985	-			324			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.970G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289153	0.59976	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.88	3.15	0.36227	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.229842	0.44688	N	0.000428	D	0.92958	0.7759	L	0.39633	1.23	0.42947	D	0.994364	D;D	0.69078	0.997;0.997	P;P	0.60286	0.872;0.872	D	0.91498	0.5217	10	0.66056	D	0.02	.	9.1652	0.37048	0.0:0.7267:0.0:0.2733	.	282;324	E9PEE8;P18564	.;ITB6_HUMAN	M	324;282;324;324	ENSP00000283249:V324M;ENSP00000408024:V282M;ENSP00000386828:V324M;ENSP00000386367:V324M	ENSP00000283249:V324M	V	-	1	0	ITGB6	160734016	0.972000	0.33761	0.240000	0.24138	0.961000	0.63080	1.247000	0.32815	0.405000	0.25532	-0.140000	0.14226	GTG		0.294	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		T	161025770	C	T	161025770	3	4	68	1	0	0	0	0	1	0	0	0	7899	536	19	1	1432	1	ITGB6	2	161025770	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	57646643	161025770	82173603	9	4519											
DNAH7	56171	broad.mit.edu	37	chr2	196865488	196865488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagctttaatcatgacGtcataaacatttagaaagat	16	12	6	7	1	2	4	2	2	0	2	2	4	2	4	0	0	2	1	0	0	5	5	rs370258473		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:196865488G>A	ENST00000312428.6	-	12	1393	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	DNAH7_ENST00000410072.1_Silent_p.D431D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	431	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATCATGACGTCATAAACAT	0.338																																						uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1291-1293)gaC>gaT		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.		A		1,3665		0,1,1832	163	165	164		1293	-2.8	0.9	2		164	0,8160		0,0,4080	no	coding-synonymous	DNAH7	NM_018897.2		0,1,5912	AA,AG,GG		0.0,0.0273,0.0085		431/4025	196865488	1,11825	1833	4080	5913	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196865488G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1293C>T	2.37:g.196865488G>A							p.D431D	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			11	1394	-			431			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.1293C>T	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196865488	G	A	196865488	2	1	68	1	0	0	0	0	0	0	0	1	4606	1136	40	1		1	DNAH7	2	196865488	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	35839718	196865488	46333885	10	4520											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-																															ctctggagggtgcagcaaggGctgctgctgctgctgctgct																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						uc021vxn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)cagccc>ccc		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del					IRS1_uc002voh.4_In_Frame_Del_p.Q882del	p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	2645_2647	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		-	227660810	GCT	-	227660808	7	5	68	1	0	1	0	1	0	0	0	0	7840	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-06-0878-01A-01W-0424-08	30795320	227660808	15538565	11	4521											
FBLN2	2199	broad.mit.edu	37	chr3	13672223	13672223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagtgtgaggcccagcGctgcagccaggagtgtgcca	9	6	16	10	1	0	2	0	2	0	0	0	4	0	3	3	2	4	2	3	2	1	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:13672223G>A	ENST00000295760.7	+	14	2921	c.2852G>A	c.(2851-2853)cGc>cAc	p.R951H	FBLN2_ENST00000492059.1_Missense_Mutation_p.R998H|FBLN2_ENST00000535798.1_Missense_Mutation_p.R977H|FBLN2_ENST00000404922.3_Missense_Mutation_p.R998H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	951	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAGGCCCAGCGCTGCAGCCAG	0.607																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2992-2994)cGc>cAc		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							33	38	36					3																	13672223		2196	4299	6495	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672223G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2852G>A	3.37:g.13672223G>A	ENSP00000295760:p.Arg951His					FBLN2_uc011auz.2_Missense_Mutation_p.R977H|FBLN2_uc011avb.2_Missense_Mutation_p.R951H|FBLN2_uc011ava.2_Missense_Mutation_p.R998H	p.R998H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		14	3375	+			990			EGF-like 9; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2993G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246645	0.80024	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.87334	-2.23;-2.24;-2.24;-2.24	5.26	3.41	0.39046	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.056380	0.64402	D	0.000001	D	0.86485	0.5944	N	0.13098	0.295	0.43719	D	0.996193	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.72625	0.834;0.978;0.978	D	0.86546	0.1831	10	0.40728	T	0.16	.	14.1161	0.65154	0.0:0.6033:0.3967:0.0	.	951;998;977	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	H	977;998;951;998	ENSP00000445705:R977H;ENSP00000384169:R998H;ENSP00000295760:R951H;ENSP00000420042:R998H	ENSP00000295760:R951H	R	+	2	0	FBLN2	13647224	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.615000	0.61190	1.216000	0.43427	0.561000	0.74099	CGC		0.607	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13672223	G	A	13672223	3	1	68	1	0	0	0	0	1	0	0	0	5699	1087	38	1	1737	1	FBLN2	3	13672223	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		13672223	184350207	12	4522											
ATP11B	23200	broad.mit.edu	37	chr3	182585181	182585181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggattggtattgtgtttaTtggcaattctgaagaaacta	12	16	10	3	0	1	2	0	1	1	1	1	3	1	3	0	3	1	3	0	3	7	9			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:182585181T>C	ENST00000323116.5	+	15	1897	c.1637T>C	c.(1636-1638)aTt>aCt	p.I546T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	546					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTGTGTTTATTGGCAATTCT	0.294																																						uc003flb.3																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1636-1638)aTt>aCt		Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.							147	148	148					3																	182585181		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182585181T>C	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1637T>C	3.37:g.182585181T>C	ENSP00000321195:p.Ile546Thr					ATP11B_uc003flc.3_Missense_Mutation_p.I130T	p.I546T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		14	1894	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		546					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.1637T>C	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045749	0.36085	.	.	ENSG00000058063	ENST00000323116	T	0.63255	-0.03	5.41	4.26	0.50523	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.812571	0.11148	N	0.594462	T	0.30792	0.0776	N	0.02247	-0.625	0.50813	D	0.999894	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36866	-0.9730	10	0.19590	T	0.45	.	3.2148	0.06695	0.1845:0.1517:0.0:0.6638	.	120;546	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	T	546	ENSP00000321195:I546T	ENSP00000321195:I546T	I	+	2	0	ATP11B	184067875	0.996000	0.38824	0.355000	0.25773	0.813000	0.45954	1.128000	0.31369	2.043000	0.60533	0.386000	0.25728	ATT		0.294	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		C	182585181	T	C	182585181	3	2	68	1	0	0	0	0	1	0	0	0	1120	1493	52	4	1695	4	ATP11B	3	182585181	Missense_Mutation	SNP	T	TCGA-06-0878-01A-01W-0424-08	168912958	182585181	15437249	13	4523											
CTBP1	1487	broad.mit.edu	37	chr4	1206064	1206064	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtctctatccgcctcGggcttgacggtttggccagg	3	11	15	12	4	1	1	0	1	1	0	4	1	2	1	3	5	0	2	3	5	1	3	rs369378786		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:1206064G>C	ENST00000290921.6	-	9	1468	c.1287C>G	c.(1285-1287)ccC>ccG	p.P429P	CTBP1_ENST00000382952.3_Silent_p.P418P	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	429					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TATCCGCCTCGGGCTTGACGG	0.692																																						uc003gcw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(1288-1290)ccC>ccG		Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.							13	13	13					4																	1206064		2159	4265	6424	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206064G>C	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1287C>G	4.37:g.1206064G>C						AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcv.1_Silent_p.P429P	p.P430P	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	8	1455	-			429					Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.1290C>G	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	0.750	-0.773194	0.02951	.	.	ENSG00000159692	ENST00000503594;ENST00000504092	.	.	.	4.7	0.772	0.18510	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24799	-1.0150	4	.	.	.	-17.9647	3.9584	0.09399	0.4801:0.0:0.2309:0.2891	.	.	.	.	G	173;276	.	.	R	-	1	2	CTBP1	1196064	0.808000	0.29022	0.519000	0.27824	0.002000	0.02628	-0.153000	0.10144	0.206000	0.20587	0.491000	0.48974	CGA		0.692	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		C	1206064	G	C	1206064	2	2	68	1	0	0	0	0	0	0	0	1	3997	1103	39	5		5	CTBP1	4	1206064	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08		1206064	189948212	14	4524											
CLNK	116449	broad.mit.edu	37	chr4	10515205	10515205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaggagaacagggctgCatgcctcctctatgatctgg	8	10	12	11	0	3	3	0	2	3	1	4	4	4	3	2	3	3	2	2	3	2	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:10515205C>A	ENST00000226951.6	-	16	1028	c.789G>T	c.(787-789)atG>atT	p.M263I	CLNK_ENST00000515667.1_Start_Codon_SNP_p.M1I	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	263					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACAGGGCTGCATGCCTCCTC	0.502																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.4																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(787-789)atG>atT		Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.							63	60	61					4																	10515205		1994	4179	6173	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10515205C>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.789G>T	4.37:g.10515205C>A	ENSP00000226951:p.Met263Ile						p.M263I	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			15	926	-			263					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.789G>T	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182248	0.21787	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.71222	1.94;-0.55	4.31	0.564	0.17302	.	2.602760	0.00961	N	0.003100	T	0.58308	0.2113	L	0.32530	0.975	0.09310	N	1	B	0.20368	0.044	B	0.15870	0.014	T	0.26538	-1.0100	10	0.22706	T	0.39	0.6383	5.0084	0.14300	0.0:0.4811:0.3304:0.1885	.	263	Q7Z7G1	CLNK_HUMAN	I	263;1;227	ENSP00000226951:M263I;ENSP00000427256:M1I	ENSP00000226951:M263I	M	-	3	0	CLNK	10124303	0.023000	0.18921	0.000000	0.03702	0.011000	0.07611	0.232000	0.17891	0.050000	0.15949	0.655000	0.94253	ATG		0.502	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		A	10515205	C	A	10515205	3	1	68	1	0	0	0	0	1	0	0	0	3547	710	25	5	513	5	CLNK	4	10515205	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	9309141	10515205	180639071	15	4525											
DCHS2	54798	broad.mit.edu	37	chr4	155252747	155252747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcaccttctcctaattCacagaacagagacttgagaa	15	9	7	10	0	3	3	2	1	1	3	4	5	3	3	2	1	1	0	2	1	4	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:155252747C>T	ENST00000357232.4	-	10	2352	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	785	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tctcctaattcacagaaCAGA	0.483																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2353-2355)Gaa>Aaa		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							73	58	63					4																	155252747		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155252747C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2353G>A	4.37:g.155252747C>T	ENSP00000349768:p.Glu785Lys					DCHS2_uc003inx.2_Intron	p.E785K	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2353	-	all_hematologic(180;0.208)	Renal(120;0.0854)	785			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2353G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	1.424	-0.572115	0.03882	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	3.52	2.67	0.31697	Cadherin (2);Cadherin-like (1);	3.081620	0.01358	U	0.012142	T	0.29028	0.0721	N	0.14661	0.345	0.09310	N	0.999999	B	0.14438	0.01	B	0.06405	0.002	T	0.28776	-1.0033	10	0.05959	T	0.93	.	6.5943	0.22664	0.0:0.8691:0.0:0.1309	.	785	Q6V1P9	PCD23_HUMAN	K	785	ENSP00000349768:E785K	ENSP00000349768:E785K	E	-	1	0	DCHS2	155472197	0.005000	0.15991	0.007000	0.13788	0.197000	0.23852	0.149000	0.16243	1.048000	0.40298	0.561000	0.74099	GAA		0.483	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155252747	C	T	155252747	3	4	68	1	0	0	0	0	1	0	0	0	4288	835	29	3	6557	3	DCHS2	4	155252747	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	144737542	155252747	35901529	16	4526											
CTNND2	1501	broad.mit.edu	37	chr5	11022883	11022883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcaccaggtaacttacttAtctcctttgcttttggagat	8	16	7	10	1	2	1	1	0	1	1	3	2	2	1	2	2	3	2	2	2	3	6			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:11022883A>C	ENST00000304623.8	-	17	3186	c.2997T>G	c.(2995-2997)gaT>gaG	p.D999E	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.D662E|CTNND2_ENST00000458100.2_Missense_Mutation_p.D566E|CTNND2_ENST00000359640.2_Missense_Mutation_p.D941E|CTNND2_ENST00000511377.1_Missense_Mutation_p.D908E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	999					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAACTTACTTATCTCCTTTGC	0.488																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2995-2997)gaT>gaG		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							132	115	121					5																	11022883		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022883A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2997T>G	5.37:g.11022883A>C	ENSP00000307134:p.Asp999Glu					CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	p.D999E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	3142	-			999					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2997T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970924	0.74246	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77489	-1.0;-1.09;-1.0;-1.1;-1.09	5.64	-2.36	0.06663	Armadillo-like helical (1);Armadillo-type fold (1);	0.101221	0.64402	D	0.000003	T	0.78336	0.4267	L	0.28556	0.865	0.58432	D	0.999995	D;D;D	0.64830	0.984;0.984;0.994	D;D;D	0.70716	0.967;0.967;0.97	T	0.76332	-0.2998	10	0.51188	T	0.08	-15.9716	14.708	0.69206	0.1157:0.0:0.8843:0.0	.	662;591;999	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	999;941;908;94;566;662	ENSP00000307134:D999E;ENSP00000352661:D941E;ENSP00000426510:D908E;ENSP00000391155:D566E;ENSP00000426887:D662E	ENSP00000307134:D999E	D	-	3	2	CTNND2	11075883	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	1.467000	0.35321	-0.316000	0.08690	-0.250000	0.11733	GAT		0.488	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		C	11022883	A	C	11022883	3	2	68	1	0	0	0	0	1	0	0	0	4020	446	16	5	704	5	CTNND2	5	11022883	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08		11022883	169892377	17	4527											
PCDHA8	56140	broad.mit.edu	37	chr5	140222517	140222517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	0	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:140222517G>A	ENST00000531613.1	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1609-1611)gcG>gcA		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							54	64	61					5																	140222517		2194	4269	6463	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222517G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1611G>A	5.37:g.140222517G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.A537A	p.A537A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1611	+			551			Cadherin 5.		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1611G>A	CCDS54919.1																																																																																				0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222517	G	A	140222517	2	1	68	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222517	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	129199634	140222517	40692743	18	4528											
DOCK2	1794	broad.mit.edu	37	chr5	169122848	169122848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggataaaatttacttGatttgtcaaatagtccgggt	14	13	9	5	1	1	1	1	1	0	0	2	2	2	2	1	2	2	0	1	2	6	6			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:169122848G>T	ENST00000256935.8	+	10	965	c.885G>T	c.(883-885)ttG>ttT	p.L295F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	295					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATTTACTTGATTTGTCAAA	0.463																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(883-885)ttG>ttT		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							96	101	99					5																	169122848		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169122848G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.885G>T	5.37:g.169122848G>T	ENSP00000256935:p.Leu295Phe					DOCK2_uc011der.2_Non-coding_Transcript	p.L295F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	965	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	295					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.885G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.991199	0.54041	.	.	ENSG00000134516	ENST00000256935	T	0.18960	2.18	5.98	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.46670	1.46	0.80722	D	1	B	0.24920	0.114	B	0.24701	0.055	T	0.03807	-1.1002	10	0.49607	T	0.09	.	12.1092	0.53830	0.1898:0.0:0.8102:0.0	.	295	Q92608	DOCK2_HUMAN	F	295	ENSP00000256935:L295F	ENSP00000256935:L295F	L	+	3	2	DOCK2	169055426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.103000	0.31062	1.544000	0.49359	0.650000	0.86243	TTG		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169122848	G	T	169122848	3	4	68	1	0	0	0	0	1	0	0	0	4687	1281	45	5	923	5	DOCK2	5	169122848	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	28900331	169122848	11792412	19	4529											
HCRTR2	3062	broad.mit.edu	37	chr6	55142306	55142306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaataaagcagatccgAgccagaaggaaaacagcccg	17	3	11	10	2	0	3	0	1	0	2	1	5	1	4	3	1	4	2	3	1	6	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr6:55142306A>G	ENST00000370862.3	+	5	1227	c.891A>G	c.(889-891)cgA>cgG	p.R297R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	297					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGATCCGAGCCAGAAGGA	0.493																																						uc003pcl.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(889-891)cgA>cgG		Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.							100	100	100					6																	55142306		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142306A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.891A>G	6.37:g.55142306A>G						HCRTR2_uc010jzv.3_Non-coding_Transcript	p.R297R	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	1206	+	Lung NSC(77;0.107)|Renal(3;0.122)		297					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.891A>G	CCDS4956.1																																																																																				0.493	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			G	55142306	A	G	55142306	2	3	68	1	0	0	0	0	0	0	0	1	7002	291	11	4		4	HCRTR2	6	55142306	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08		55142306	115972761	20	4530											
GHRHR	2692	broad.mit.edu	37	chr7	31016925	31016925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgccatcctctactgcttCctcaaccaagaggtgtgtga	8	12	9	12	0	2	2	1	1	1	1	4	2	4	2	4	1	4	2	4	1	3	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:31016925C>T	ENST00000326139.2	+	12	1180	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	GHRHR_ENST00000409904.3_Silent_p.F314F|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409316.1_Missense_Mutation_p.P145S	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	378					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCTACTGCTTCCTCAACCAAG	0.552																																						uc003tbx.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1132-1134)ttC>ttT		Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	Sermorelin(DB00010)						224	194	204					7																	31016925		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016925C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1134C>T	7.37:g.31016925C>T						GHRHR_uc003tby.3_Silent_p.F314F|GHRHR_uc003tbz.3_Missense_Mutation_p.P145S	p.F378F	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			11	1182	+			378					Q99863	Silent	SNP	ENST00000326139.2	37	c.1134C>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.720579	0.30503	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.25	4.16	0.48862	.	.	.	.	.	T	0.47801	0.1465	.	.	.	0.80722	D	1	P	0.46784	0.884	B	0.43155	0.41	T	0.53415	-0.8442	7	0.87932	D	0	.	9.6576	0.39936	0.0:0.89:0.0:0.11	.	145	Q9HB43	.	S	166;145	.	ENSP00000386919:P166S	P	+	1	0	GHRHR	30983450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.456000	0.35201	2.469000	0.83416	0.645000	0.84053	CCT		0.552	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			T	31016925	C	T	31016925	2	4	68	1	0	0	0	0	0	0	0	1	6373	854	30	3		3	GHRHR	7	31016925	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08		31016925	128121738	21	4531											
EGFR	1956	broad.mit.edu	37	chr7	55221781	55221781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctacaaccccaccacgtaCcagatggatgtgaaccccga	12	6	7	16	2	1	2	0	1	1	1	1	4	1	3	6	1	4	1	6	1	4	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221781C>T	ENST00000275493.2	+	7	1002	c.825C>T	c.(823-825)taC>taT	p.Y275Y	EGFR_ENST00000442591.1_Silent_p.Y275Y|EGFR_ENST00000344576.2_Silent_p.Y275Y|EGFR_ENST00000454757.2_Silent_p.Y222Y|EGFR_ENST00000455089.1_Silent_p.Y230Y|EGFR_ENST00000342916.3_Silent_p.Y275Y|EGFR_ENST00000420316.2_Silent_p.Y275Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	275			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCACCACGTACCAGATGGATG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(823-825)taC>taT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						198	156	170					7																	55221781		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221781C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.825C>T	7.37:g.55221781C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Silent_p.Y275Y|EGFR_uc003tqi.3_Silent_p.Y275Y|EGFR_uc003tqj.3_Silent_p.Y275Y|EGFR_uc022adm.1_Silent_p.Y275Y|EGFR_uc010kzg.2_Silent_p.Y230Y|EGFR_uc022adn.1_Silent_p.Y230Y|EGFR_uc011kco.2_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.Y275Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1071	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		275					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.825C>T	CCDS5514.1																																																																																				0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221781	C	T	55221781	2	4	68	1	0	0	0	0	0	0	0	1	4967	518	18	3		3	EGFR	7	55221781	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	24204856	55221781	103916882	22	4532			1	15		3	3	41	N	GC_C	2.929978e-09
EGFR	1956	broad.mit.edu	37	chr7	55221796	55221796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgtaccagatggatgtgaaCcccgagggcaaatacagctt	13	7	11	10	2	0	2	0	1	0	1	0	4	0	3	3	2	4	3	3	2	4	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221796C>T	ENST00000275493.2	+	7	1017	c.840C>T	c.(838-840)aaC>aaT	p.N280N	EGFR_ENST00000442591.1_Silent_p.N280N|EGFR_ENST00000344576.2_Silent_p.N280N|EGFR_ENST00000454757.2_Silent_p.N227N|EGFR_ENST00000455089.1_Silent_p.N235N|EGFR_ENST00000342916.3_Silent_p.N280N|EGFR_ENST00000420316.2_Silent_p.N280N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	280			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGGATGTGAACCCCGAGGGCA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(838-840)aaC>aaT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						195	154	168					7																	55221796		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221796C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.840C>T	7.37:g.55221796C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Silent_p.N280N|EGFR_uc003tqi.3_Silent_p.N280N|EGFR_uc003tqj.3_Silent_p.N280N|EGFR_uc022adm.1_Silent_p.N280N|EGFR_uc010kzg.2_Silent_p.N235N|EGFR_uc022adn.1_Silent_p.N235N|EGFR_uc011kco.2_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.N280N	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1086	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		280					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.840C>T	CCDS5514.1																																																																																				0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221796	C	T	55221796	2	4	68	1	0	0	0	0	0	0	0	1	4967	506	18	3		3	EGFR	7	55221796	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	15	55221796	103916867	23	4533			1	15		3	3	41	N	GC_C	2.929978e-09
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AT																															agggcaaatacagctttggtGccacctgcgtgaagaagtgt																								rs149840192		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221821_55221822GC>AT	ENST00000275493.2	+	7	1042_1043	c.865_866GC>AT	c.(865-867)GCc>ATc	p.A289I	EGFR_ENST00000442591.1_Missense_Mutation_p.A289I|EGFR_ENST00000344576.2_Missense_Mutation_p.A289I|EGFR_ENST00000454757.2_Missense_Mutation_p.A236I|EGFR_ENST00000455089.1_Missense_Mutation_p.A244I|EGFR_ENST00000342916.3_Missense_Mutation_p.A289I|EGFR_ENST00000420316.2_Missense_Mutation_p.A289I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289T(3)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		26	Substitution - Missense(26)	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)	central_nervous_system(26)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gcc>ATc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821_55221822GC>AT		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	Exception_encountered	7.37:g.55221821_55221822delinsAT	ENSP00000275493:p.Ala289Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289I|EGFR_uc003tqi.3_Missense_Mutation_p.A289I|EGFR_uc003tqj.3_Missense_Mutation_p.A289I|EGFR_uc022adm.1_Missense_Mutation_p.A289I|EGFR_uc010kzg.2_Missense_Mutation_p.A244I|EGFR_uc022adn.1_Missense_Mutation_p.A244I|EGFR_uc011kco.2_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111_1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	DNP	ENST00000275493.2	37	c.865_866GC>AT	CCDS5514.1																																																																																				0.589	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		AT	55221822	GC	AT	55221821	3	1	68	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	DNP	GC	TCGA-06-0878-01A-01W-0424-08	25	55221821	103916842	24	4534			1	15		3	3	41	N	GC_C	2.929978e-09
SEMA3E	9723	broad.mit.edu	37	chr7	82997221	82997221	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcttccactacctccAaggtgattttacggaccgta	8	13	6	14	2	2	1	0	1	2	0	5	2	4	2	5	2	2	1	5	2	4	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:82997221A>C	ENST00000307792.3	-	17	2476	c.2009T>G	c.(2008-2010)tTg>tGg	p.L670W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L610W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	670					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACTACCTCCAAGGTGATTTT	0.468																																						uc003uhy.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(2008-2010)tTg>tGg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							129	112	118					7																	82997221		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997221A>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2009T>G	7.37:g.82997221A>C	ENSP00000303212:p.Leu670Trp					SEMA3E_uc022agy.1_Missense_Mutation_p.L610W	p.L670W	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			16	2630	-		Medulloblastoma(109;0.109)	670					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2009T>G	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631015	0.87660	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.04809	3.55;3.55	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.25082	0.0609	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01090	-1.1455	10	0.87932	D	0	.	16.0802	0.81001	1.0:0.0:0.0:0.0	.	670	O15041	SEM3E_HUMAN	W	670;610;670	ENSP00000303212:L670W;ENSP00000405052:L610W	ENSP00000303212:L670W	L	-	2	0	SEMA3E	82835157	1.000000	0.71417	0.953000	0.39169	0.960000	0.62799	8.562000	0.90719	2.201000	0.70794	0.477000	0.44152	TTG		0.468	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		C	82997221	A	C	82997221	3	2	68	1	0	0	0	0	1	0	0	0	14028	131	5	5	322	5	SEMA3E	7	82997221	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	27775400	82997221	76141442	25	4535											
ZAN	7455	broad.mit.edu	37	chr7	100350611	100350611	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccatccccacagaaaaAcccaccatctccacggaaaa	16	4	3	18	1	2	1	1	0	1	1	4	2	3	2	6	1	1	0	6	1	4	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:100350611A>G	ENST00000348028.3	+	0	3048				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATCT	0.512																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(2881-2883)aaA>aaG		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							225	263	251					7																	100350611		1868	4097	5965			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350611A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350611A>G						ZAN_uc003uwk.3_Silent_p.K961K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	p.K961K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		13	3048	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		961			66 X heptapeptide repeats (approximate) (mucin-like domain).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.2883A>G																																																																																					0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		G	100350611	A	G	100350611	1	3	68	0	1	0	0	0	0	0	0	0	17510	40	2	4		4	ZAN	7	100350611	RNA	SNP	A	TCGA-06-0878-01A-01W-0424-08	17353390	100350611	58788052	26	4536											
LAMB4	22798	broad.mit.edu	37	chr7	107706946	107706946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagtagcctgccaggcagCgatcacagcggcggccagac	11	3	13	14	3	1	1	1	0	0	1	1	2	1	1	3	3	4	2	3	3	2	1	rs148837121		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:107706946C>T	ENST00000388781.3	-	20	2629	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	LAMB4_ENST00000205386.4_Missense_Mutation_p.R849H|LAMB4_ENST00000388780.3_Missense_Mutation_p.R849H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	849	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCCAGGCAGCGATCACAGCG	0.532													C|||	1	0.000199681	0	0	5008	,	,		18951	0		0.001	False		,,,				2504	0					uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2545-2547)cGc>cAc		Homo sapiens laminin, beta 4 (LAMB4), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	52	54		2546	-3.8	0	7	dbSNP_134	54	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LAMB4	NM_007356.2	29	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign	849/1762	107706946	6,13000	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706946C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2546G>A	7.37:g.107706946C>T	ENSP00000373433:p.Arg849His					LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank	p.R849H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			19	2630	-			849			Laminin EGF-like 7.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2546G>A	CCDS34732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.52	1.962472	0.34659	2.27E-4	5.81E-4	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.64260	-0.09;-0.09;-0.09	4.88	-3.78	0.04333	EGF-like, laminin (4);	1.261530	0.05823	N	0.616059	T	0.54224	0.1845	L	0.49256	1.55	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.47315	-0.9127	10	0.38643	T	0.18	.	11.7958	0.52100	0.1114:0.6806:0.0:0.208	.	849	A4D0S4	LAMB4_HUMAN	H	849	ENSP00000205386:R849H;ENSP00000373433:R849H;ENSP00000373432:R849H	ENSP00000205386:R849H	R	-	2	0	LAMB4	107494182	0.000000	0.05858	0.000000	0.03702	0.721000	0.41392	-0.886000	0.04157	-0.628000	0.05582	-0.471000	0.05019	CGC		0.532	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107706946	C	T	107706946	3	4	68	1	0	0	0	0	1	0	0	0	8613	768	27	1	2799	1	LAMB4	7	107706946	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	7356335	107706946	51431717	27	4537											
MLL3	58508	broad.mit.edu	37	chr7	151892993	151892993	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtattcatatataccTgaatgatcaactgattttgc	15	14	5	7	0	2	3	2	3	0	0	2	3	2	3	1	0	4	1	1	0	7	7			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:151892993T>C	ENST00000262189.6	-	28	4595	c.4377A>G	c.(4375-4377)tcA>tcG	p.S1459S	KMT2C_ENST00000355193.2_Splice_Site_p.S1459S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1459					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CATATATACCTGAATGATCAA	0.363																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.e28+1		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							65	63	64					7																	151892993		2203	4298	6501	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151892993T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4378+1A>G	7.37:g.151892993T>C						MLL3_uc003wkz.3_Splice_Site_p.D521_splice	p.D1460_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	28	4597	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1460					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.4378_splice	CCDS5931.1																																																																																				0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Silent	C	151892993	T	C	151892993	5	2	68	1	0	0	0	0	0	0	1	0	9622	1594	55	4	10486	4	MLL3	7	151892993	Splice_Site	SNP	T	TCGA-06-0878-01A-01W-0424-08	44186047	151892993	7245670	28	4538											
PREX2	80243	broad.mit.edu	37	chr8	69104577	69104577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctgcagctaatgaGgcctctcaacgctttggatg	7	16	9	9	1	2	1	1	1	2	0	3	2	2	2	1	2	3	3	1	2	2	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr8:69104577G>A	ENST00000288368.4	+	37	4698	c.4421G>A	c.(4420-4422)aGg>aAg	p.R1474K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1474					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTAATGAGGCCTCTCAAC	0.413																																						uc003xxv.1																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4420-4422)aGg>aAg		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.							84	72	76					8																	69104577		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104577G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4421G>A	8.37:g.69104577G>A	ENSP00000288368:p.Arg1474Lys						p.R1474K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			36	4448	+			1474					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4421G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735642	0.69189	.	.	ENSG00000046889	ENST00000288368	T	0.60672	0.17	4.89	4.0	0.46444	.	0.060434	0.64402	N	0.000006	T	0.53514	0.1801	L	0.53249	1.67	0.45621	D	0.998556	B	0.06786	0.001	B	0.15052	0.012	T	0.54255	-0.8321	10	0.59425	D	0.04	.	13.8877	0.63719	0.0755:0.0:0.9245:0.0	.	1474	Q70Z35	PREX2_HUMAN	K	1474	ENSP00000288368:R1474K	ENSP00000288368:R1474K	R	+	2	0	PREX2	69267131	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.450000	0.80656	1.160000	0.42584	0.467000	0.42956	AGG		0.413	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	69104577	G	A	69104577	3	1	68	1	0	0	0	0	1	0	0	0	12477	1000	35	3	4796	3	PREX2	8	69104577	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		69104577	77259445	29	4539											
LPAR1	1902	broad.mit.edu	37	chr9	113704320	113704320	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgatgaagatacaaacAgtgattccaagtcccatcac	17	8	6	10	0	1	4	1	3	0	1	3	4	3	4	2	0	3	0	2	0	5	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:113704320A>C	ENST00000374431.3	-	4	557	c.174T>G	c.(172-174)acT>acG	p.T58T	LPAR1_ENST00000538760.1_Silent_p.T59T|LPAR1_ENST00000541779.1_Silent_p.T59T|LPAR1_ENST00000358883.4_Silent_p.T58T|LPAR1_ENST00000374430.2_Silent_p.T58T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	58					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAAACAGTGATTCCAA	0.438																																					NSCLC(115;661 2323 9836 34256)	uc011lwo.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(175-177)acT>acG		Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.							116	104	108					9																	113704320		2203	4300	6503	SO:0001819	synonymous_variant	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704320A>C	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.174T>G	9.37:g.113704320A>C						LPAR1_uc004bfa.3_Silent_p.T58T|LPAR1_uc011lwm.2_Silent_p.T59T|LPAR1_uc004bfc.3_Silent_p.T58T|LPAR1_uc011lwn.2_Silent_p.T40T|LPAR1_uc004bfb.3_Silent_p.T58T|LPAR1_uc010mub.3_Silent_p.T58T	p.T59T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			1	179	-			58					B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	c.177T>G	CCDS6777.1																																																																																				0.438	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		C	113704320	A	C	113704320	2	2	68	1	0	0	0	0	0	0	0	1	8904	175	7	5		5	LPAR1	9	113704320	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08		113704320	27509111	30	4540											
TRAF1	7185	broad.mit.edu	37	chr9	123675735	123675735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctcaaacacacgcagcttCccctccagctcagccagaag	11	7	6	17	1	2	1	2	0	1	1	5	1	4	1	4	0	4	3	4	0	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:123675735C>T	ENST00000373887.3	-	5	3021	c.576G>A	c.(574-576)ggG>ggA	p.G192G	TRAF1_ENST00000546084.1_Silent_p.G70G|TRAF1_ENST00000540010.1_Silent_p.G192G	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G192G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612																																						uc004bku.2																			1	Substitution - coding silent(1)	p.G192G(2)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(574-576)ggG>ggA		Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.							53	45	48					9																	123675735		2203	4300	6503	SO:0001819	synonymous_variant	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675735C>T	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.576G>A	9.37:g.123675735C>T						TRAF1_uc011lyg.2_Silent_p.G70G|TRAF1_uc010mvl.2_Silent_p.G192G	p.G192G	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN			4	1148	-			192					B4DJ77|Q658U1|Q8NF13	Silent	SNP	ENST00000373887.3	37	c.576G>A	CCDS6825.1																																																																																				0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		T	123675735	C	T	123675735	2	4	68	1	0	0	0	0	0	0	0	1	16434	842	30	3		3	TRAF1	9	123675735	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	9971415	123675735	17537696	31	4541											
GOLGA1	2800	broad.mit.edu	37	chr9	127670739	127670739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatcctccaaattctgctCagcaagtgttttctgtaagt	9	15	8	9	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	4	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:127670739C>T	ENST00000373555.4	-	12	1315	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	328					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAATTCTGCTCAGCAAGTGTT	0.418																																						uc004bpc.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(982-984)Gag>Aag		Homo sapiens golgin A1 (GOLGA1), mRNA.							116	108	111					9																	127670739		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127670739C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.982G>A	9.37:g.127670739C>T	ENSP00000362656:p.Glu328Lys					GOLGA1_uc010mws.3_Non-coding_Transcript	p.E328K	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			11	1324	-			328					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.982G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034093	0.93575	.	.	ENSG00000136935	ENST00000373555	T	0.75938	-0.98	5.78	5.78	0.91487	.	0.000000	0.47093	D	0.000244	D	0.84469	0.5479	M	0.78801	2.425	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.80176	-0.1491	10	0.10902	T	0.67	-20.5754	16.7408	0.85459	0.0:1.0:0.0:0.0	.	328	Q92805	GOGA1_HUMAN	K	328	ENSP00000362656:E328K	ENSP00000362656:E328K	E	-	1	0	GOLGA1	126710560	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	3.097000	0.50251	2.735000	0.93741	0.650000	0.86243	GAG		0.418	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		T	127670739	C	T	127670739	3	4	68	1	0	0	0	0	1	0	0	0	6551	835	29	3	1369	3	GOLGA1	9	127670739	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	3995004	127670739	13542692	32	4542											
KCNT1	57582	broad.mit.edu	37	chr9	138667205	138667205	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacatcggcagctccccaAccctgtgccacctcctgcct	6	8	6	21	1	0	0	0	0	0	0	3	0	2	0	8	1	5	2	8	1	2	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:138667205A>C	ENST00000263604.3	+	20	2236	c.2236A>C	c.(2236-2238)Acc>Ccc	p.T746P	KCNT1_ENST00000486577.2_Missense_Mutation_p.T724P|KCNT1_ENST00000298480.5_Missense_Mutation_p.T765P|KCNT1_ENST00000371757.2_Missense_Mutation_p.T765P|KCNT1_ENST00000488444.2_Missense_Mutation_p.T746P|KCNT1_ENST00000490355.2_Missense_Mutation_p.T744P|KCNT1_ENST00000491806.2_Missense_Mutation_p.T732P|KCNT1_ENST00000487664.1_Missense_Mutation_p.T720P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	746					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCCAACCCTGTGCCA	0.662																																						uc011mdq.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2293-2295)Acc>Ccc		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							87	68	74					9																	138667205		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138667205A>C	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2236A>C	9.37:g.138667205A>C	ENSP00000263604:p.Thr746Pro					KCNT1_uc011mdr.2_Missense_Mutation_p.T592P|KCNT1_uc010nbf.3_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	p.T765P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	19	2367	+		Myeloproliferative disorder(178;0.0821)	765					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2293A>C		.	.	.	.	.	.	.	.	.	.	A	22.1	4.243187	0.79912	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	3.61	3.61	0.41365	.	0.000000	0.85682	U	0.000000	D	0.92410	0.7591	M	0.88842	2.985	0.80722	D	1	D;P;D;D	0.69078	0.996;0.956;0.997;0.996	P;P;D;P	0.71184	0.905;0.864;0.972;0.905	D	0.93324	0.6695	10	0.87932	D	0	-42.5919	12.2453	0.54566	1.0:0.0:0.0:0.0	.	732;765;720;746	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	P	720;765;765;724;732;746;744;746	ENSP00000417851:T720P;ENSP00000298480:T765P;ENSP00000360822:T765P;ENSP00000263604:T746P	ENSP00000263604:T746P	T	+	1	0	KCNT1	137807026	1.000000	0.71417	0.783000	0.31826	0.937000	0.57800	6.065000	0.71176	1.282000	0.44496	0.248000	0.18094	ACC		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		C	138667205	A	C	138667205	3	2	68	1	0	0	0	0	1	0	0	0	8091	43	2	5	2371	5	KCNT1	9	138667205	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	10996466	138667205	2546226	33	4543											
COL17A1	1308	broad.mit.edu	37	chr10	105823552	105823552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtgggtgagcaggacGccatgttgtttggaactccg	9	9	15	8	2	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	2	2	rs531924876		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr10:105823552G>A	ENST00000353479.5	-	11	1081	c.791C>T	c.(790-792)gCg>gTg	p.A264V	COL17A1_ENST00000393211.3_Missense_Mutation_p.A264V|COL17A1_ENST00000369733.3_Missense_Mutation_p.A264V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	264	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGCAGGACGCCATGTTGTT	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		20718	0		0	False		,,,				2504	0					uc001kxr.3																			0		p.A264A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(790-792)gCg>gTg		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							179	133	149					10																	105823552		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105823552G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.791C>T	10.37:g.105823552G>A	ENSP00000340937:p.Ala264Val					COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	p.A264V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	10	960	-		Colorectal(252;0.103)|Breast(234;0.122)	264			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.791C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020990	0.54576	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.55234	0.53;0.53;0.53	5.7	5.7	0.88788	.	0.313739	0.22372	N	0.060928	T	0.59155	0.2173	M	0.64997	1.995	0.48341	D	0.999631	D;P;P	0.54397	0.966;0.839;0.944	P;B;B	0.45712	0.491;0.335;0.296	T	0.64841	-0.6312	10	0.87932	D	0	-2.3984	19.411	0.94673	0.0:0.0:1.0:0.0	.	264;264;264	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	V	264;264;248;264	ENSP00000340937:A264V;ENSP00000358748:A264V;ENSP00000376905:A264V	ENSP00000340937:A264V	A	-	2	0	COL17A1	105813542	1.000000	0.71417	0.906000	0.35671	0.063000	0.16089	6.615000	0.74201	2.689000	0.91719	0.462000	0.41574	GCG		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105823552	G	A	105823552	3	1	68	1	0	0	0	0	1	0	0	0	3674	1087	38	1	3886	1	COL17A1	10	105823552	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		105823552	29711195	34	4544											
OR8H2	390151	broad.mit.edu	37	chr11	55873034	55873034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcatttctacgactcaaaCgtaattcatcactttttctg	10	17	4	10	2	5	0	3	0	2	0	5	1	5	0	0	0	3	2	0	0	3	7			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:55873034C>T	ENST00000313503.1	+	1	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)																												uc010riy.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(514-516)aaC>aaT		Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.							268	242	251					11																	55873034		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873034C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.516C>T	11.37:g.55873034C>T		HNSCC(53;0.14)					p.N172N	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			0	516	+	Esophageal squamous(21;0.00693)		172					Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.516C>T	CCDS31518.1																																																																																				0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		T	55873034	C	T	55873034	2	4	68	1	0	0	0	0	0	0	0	1	11238	535	19	1		1	OR8H2	11	55873034	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08		55873034	79133482	35	4545											
SUV420H1	51111	broad.mit.edu	37	chr11	67941367	67941370	+	Frame_Shift_Del	DEL	AAAT	AAAT	-																															tgtcagttgcaaacattcgcAaataaataaatacctaaaac																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:67941367_67941370delAAAT	ENST00000304363.4	-	6	907_910	c.554_557delATTT	c.(553-558)tatttgfs	p.YL185fs	SUV420H1_ENST00000401547.2_Frame_Shift_Del_p.YL185fs|SUV420H1_ENST00000405515.1_Frame_Shift_Del_p.YL185fs|SUV420H1_ENST00000402789.1_Frame_Shift_Del_p.YL185fs|SUV420H1_ENST00000402185.2_Frame_Shift_Del_p.YL162fs	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	185					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACATTCGCAAATAAATAAATAC	0.319																																						uc001onm.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(553-558)tatttgfs		Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941367_67941370delAAAT	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.554_557delATTT	11.37:g.67941375_67941378delAAAT	ENSP00000305899:p.Tyr185fs					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs	p.Y185fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			5	810_813	-			185					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Frame_Shift_Del	DEL	ENST00000304363.4	37	c.554_557delATTT	CCDS31623.1																																																																																				0.319	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		-	67941370	AAAT	-	67941367	7	5	68	1	0	1	0	1	0	0	0	0	15411	131	5	0	2132	0	SUV420H1	11	67941367	Frame_Shift_Del	DEL	AAAT	TCGA-06-0878-01A-01W-0424-08	12068333	67941367	67065149	36	4546											
ADAMTS20	80070	broad.mit.edu	37	chr12	43770043	43770043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttttcataatacctttAttattcttcccttaatgtta	10	21	2	8	0	2	0	1	0	1	0	3	0	3	0	2	0	1	2	2	0	6	11			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:43770043A>T	ENST00000389420.3	-	34	5215	c.5216T>A	c.(5215-5217)aTa>aAa	p.I1739K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1739	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAATACCTTTATTATTCTTCC	0.274																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5215-5217)aTa>aAa		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							79	76	77					12																	43770043		2188	4282	6470	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43770043A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5216T>A	12.37:g.43770043A>T	ENSP00000374071:p.Ile1739Lys						p.I1739K	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	33	5216	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1739			GON.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.5216T>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629570	0.46944	.	.	ENSG00000173157	ENST00000389420	T	0.20738	2.05	4.74	3.59	0.41128	Peptidase M12B, GON-ADAMTSs (2);	0.413978	0.19945	N	0.102543	T	0.35682	0.0940	M	0.68593	2.085	0.80722	D	1	D	0.53151	0.958	P	0.55161	0.77	T	0.12760	-1.0535	10	0.87932	D	0	.	10.7833	0.46390	0.9237:0.0:0.0763:0.0	.	1739	P59510	ATS20_HUMAN	K	1739	ENSP00000374071:I1739K	ENSP00000374071:I1739K	I	-	2	0	ADAMTS20	42056310	1.000000	0.71417	0.992000	0.48379	0.749000	0.42624	5.639000	0.67868	0.911000	0.36747	0.528000	0.53228	ATA		0.274	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43770043	A	T	43770043	3	4	68	1	0	0	0	0	1	0	0	0	266	449	16	5	539	5	ADAMTS20	12	43770043	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08		43770043	90081852	37	4547											
NCKAP1L	3071	broad.mit.edu	37	chr12	54913072	54913072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccgaatgctggactcCgtagaaaaattgctggtgga	11	9	11	10	2	0	1	0	0	0	1	2	4	2	3	2	3	2	3	2	3	4	2	rs559364211		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:54913072C>T	ENST00000293373.6	+	16	1660	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	NCKAP1L_ENST00000545638.2_Silent_p.S477S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	527					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTGGACTCCGTAGAAAAAT	0.438													A|||	1	0.000199681	0	0	5008	,	,		16019	0		0	False		,,,				2504	0.001					uc001sgc.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1579-1581)tcC>tcT		Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.							118	112	114					12																	54913072		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54913072C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1581C>T	12.37:g.54913072C>T						NCKAP1L_uc010sox.2_Silent_p.S69S|NCKAP1L_uc010soy.2_Silent_p.S477S	p.S527S	NM_005337	NP_005328	P55160	NCKPL_HUMAN			15	1660	+			527					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.1581C>T	CCDS31813.1																																																																																				0.438	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		T	54913072	C	T	54913072	2	4	68	1	0	0	0	0	0	0	0	1	10222	639	23	2		2	NCKAP1L	12	54913072	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	11143029	54913072	78938823	38	4548											
PPFIA2	8499	broad.mit.edu	37	chr12	81688794	81688794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggctgccacgtaccaCgcaggcattcccaaccaaag	11	4	10	16	3	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	3	2	rs376356533		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:81688794C>T	ENST00000549396.1	-	24	2905	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.A132A|PPFIA2_ENST00000549325.1_Silent_p.A900A|PPFIA2_ENST00000550584.2_Silent_p.A915A|PPFIA2_ENST00000548586.1_Silent_p.A915A|PPFIA2_ENST00000541570.2_Silent_p.A482A|PPFIA2_ENST00000333447.7_Silent_p.A900A|PPFIA2_ENST00000407050.4_Silent_p.A841A|PPFIA2_ENST00000443686.3_Silent_p.A816A|PPFIA2_ENST00000552948.1_Silent_p.A915A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Silent_p.A762A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	915	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACGTACCACGCAGGCATTC	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		17582	0		0	False		,,,				2504	0					uc001szo.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2743-2745)gcG>gcA		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.		C	,,,,,,,,	2,4188		0,2,2093	65	62	63		2745,2700,2745,2745,2523,2448,1446,396,2745	-6.5	1	12		63	1,8539		0,1,4269	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_001220480.1,NM_003625.3	,,,,,,,,	0,3,6362	TT,TC,CC		0.0117,0.0477,0.0236	,,,,,,,,	915/1248,900/1233,915/1237,915/1252,841/1157,816/1153,482/784,132/444,915/1258	81688794	3,12727	2095	4270	6365	SO:0001819	synonymous_variant	8499							g.chr12:81688794C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2745G>A	12.37:g.81688794C>T						PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.A841A|PPFIA2_uc021rbh.1_Silent_p.A816A|PPFIA2_uc021rbi.1_Silent_p.A915A|PPFIA2_uc021rbj.1_Silent_p.A915A|PPFIA2_uc021rbk.1_Silent_p.A900A|PPFIA2_uc021rbl.1_Silent_p.A915A|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.A482A|PPFIA2_uc021rbf.1_Silent_p.A132A	p.A915A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			23	2906	-			841					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2745G>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.472|5.472	0.272081|0.272081	0.10349|0.10349	4.77E-4|4.77E-4	1.17E-4|1.17E-4	ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000551147	.|.	.|.	.|.	5.62|5.62	-6.54|-6.54	0.01860|0.01860	.|.	.|.	.|.	.|.	.|.	T|T	0.33059|0.33059	0.0850|0.0850	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43605|0.43605	-0.9381|-0.9381	4|4	.|.	.|.	.|.	-12.4495|-12.4495	0.324|0.324	0.00308|0.00308	0.3072:0.2306:0.2358:0.2264|0.3072:0.2306:0.2358:0.2264	.|.	.|.	.|.	.|.	H|M	49|81	.|.	.|.	R|V	-|-	2|1	0|0	PPFIA2|PPFIA2	80212925|80212925	0.001000|0.001000	0.12720|0.12720	0.972000|0.972000	0.41901|0.41901	0.654000|0.654000	0.38779|0.38779	-1.176000|-1.176000	0.03099|0.03099	-0.724000|-0.724000	0.04908|0.04908	-2.645000|-2.645000	0.00150|0.00150	CGT|GTG		0.403	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			T	81688794	C	T	81688794	2	4	68	1	0	0	0	0	0	0	0	1	12310	523	19	1		1	PPFIA2	12	81688794	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	26775722	81688794	52163101	39	4549											
MYO1H	283446	broad.mit.edu	37	chr12	109843786	109843786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattggttttgaagaagaCgaccaaggctgtgccactat	13	10	10	8	1	0	3	0	1	0	2	0	4	0	3	2	2	2	2	2	2	5	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:109843786C>T	ENST00000431443.2	+	7	861	c.861C>T	c.(859-861)gaC>gaT	p.D287D	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Silent_p.D287D	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	287	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGAAGAAGACGACCAAGGCT	0.498																																						uc010sxn.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(859-861)gaC>gaT		Homo sapiens myosin IH (MYO1H), mRNA.							100	92	95					12																	109843786		1938	4150	6088	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109843786C>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.861C>T	12.37:g.109843786C>T							p.D287D	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN			6	861	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.861C>T																																																																																					0.498	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		T	109843786	C	T	109843786	2	4	68	1	0	0	0	0	0	0	0	1	10075	535	19	1		1	MYO1H	12	109843786	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	28154992	109843786	24008109	40	4550											
C12orf51	283450	broad.mit.edu	37	chr12	112703783	112703783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagagtccactgtttctCtctcctaacacagaagaaag	12	10	9	10	0	2	3	0	0	2	3	5	4	3	3	2	1	1	1	2	1	3	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:112703783C>T	ENST00000430131.2	-	14	2246	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	HECTD4_ENST00000550722.1_Silent_p.E655E|HECTD4_ENST00000377560.5_Silent_p.E617E|RN7SKP71_ENST00000364558.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	367					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACTGTTTCTCTCTCCTAACA	0.418																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(1963-1965)gaG>gaA		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							122	103	109					12																	112703783		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112703783C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1101G>A	12.37:g.112703783C>T						C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	p.E655E	NM_001109662	NP_001103132					14	2361	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1965G>A																																																																																					0.418	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112703783	C	T	112703783	2	4	68	1	0	0	0	0	0	0	0	1	1696	912	32	3		3	C12orf51	12	112703783	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	2859997	112703783	21148112	41	4551											
ATP8B4	79895	broad.mit.edu	37	chr15	50254197	50254197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttatttctgtcttctgatCcaggtcatcatgtacttcac	8	17	6	10	0	6	1	3	1	3	0	7	1	7	1	1	1	1	2	1	1	2	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr15:50254197C>A	ENST00000284509.6	-	14	1405	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D422Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	422						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCTTCTGATCCAGGTCATCA	0.264																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1264-1266)Gat>Tat		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							55	54	54					15																	50254197		2194	4293	6487	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50254197C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1264G>T	15.37:g.50254197C>A	ENSP00000284509:p.Asp422Tyr					ATP8B4_uc010ber.3_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.2_Non-coding_Transcript	p.D422Y	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	13	1406	-		all_lung(180;0.00183)	422					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1264G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	6.451	0.451283	0.12223	.	.	ENSG00000104043	ENST00000284509	T	0.63096	-0.02	5.04	-0.13	0.13498	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.167840	0.06206	N	0.684157	T	0.53514	0.1801	L	0.38838	1.175	0.09310	N	1	B	0.18013	0.025	B	0.28784	0.094	T	0.50004	-0.8878	10	0.54805	T	0.06	.	7.849	0.29442	0.0:0.5605:0.0:0.4395	.	422	Q8TF62	AT8B4_HUMAN	Y	422	ENSP00000284509:D422Y	ENSP00000284509:D422Y	D	-	1	0	ATP8B4	48041489	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.111000	0.15458	-0.156000	0.11079	0.591000	0.81541	GAT		0.264	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50254197	C	A	50254197	3	1	68	1	0	0	0	0	1	0	0	0	1197	855	30	5	2374	5	ATP8B4	15	50254197	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		50254197	52277195	42	4552											
ITFG3	83986	broad.mit.edu	37	chr16	315011	315012	+	Frame_Shift_Del	DEL	GT	GT	-																															ctcccggctgcggtaccagaGtgaggcgtagaggcacgcca																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:315011_315012delGT	ENST00000399932.3	+	13	2100_2101	c.1649_1650delGT	c.(1648-1650)agtfs	p.S550fs	ITFG3_ENST00000301678.3_Frame_Shift_Del_p.S550fs|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	550						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGGTACCAGAGTGAGGCGTAGA	0.649																																						uc002cgf.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1648-1650)agtfs		Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.																																				SO:0001589	frameshift_variant	83986					integral to membrane		g.chr16:315011_315012delGT	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1649_1650delGT	16.37:g.315011_315012delGT	ENSP00000382814:p.Ser550fs					LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Frame_Shift_Del_p.S550fs	p.S550fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			12	1844_1845	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	550					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Frame_Shift_Del	DEL	ENST00000399932.3	37	c.1649_1650delGT	CCDS10402.1																																																																																				0.649	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		-	315012	GT	-	315011	7	5	68	1	0	1	0	1	0	0	0	0	7871	1029	36	0	1691	0	ITFG3	16	315011	Frame_Shift_Del	DEL	GT	TCGA-06-0878-01A-01W-0424-08		315011	90039742	43	4553											
UMOD	7369	broad.mit.edu	37	chr16	20357449	20357449	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactggccaggacgtaccGtcaacactgtcccacagggg	9	5	11	16	2	1	0	1	0	0	0	2	1	2	1	4	4	2	1	4	4	2	1	rs532447307		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:20357449G>A	ENST00000570689.1	-	5	1327	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000396134.2_Splice_Site_p.T427M|UMOD_ENST00000396138.4_Splice_Site_p.T443M			P07911	UROM_HUMAN	uromodulin	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													G|||	1	0.000199681	0	0	5008	,	,		18519	0.001		0	False		,,,				2504	0					uc002dhb.3																			1	Substitution - Missense(1)	p.T394M(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e6+1		Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.							32	33	33					16																	20357449		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357449G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1182+1C>T	16.37:g.20357449G>A						UMOD_uc002dgz.3_Splice_Site_p.T394_splice|UMOD_uc002dha.3_Splice_Site_p.T394_splice	p.T427_splice	NM_003361	NP_003352	P07911	UROM_HUMAN			6	1410	-			394			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1281_splice	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520286	0.27211	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.85	1.14	0.20703	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.386132	0.22253	N	0.062527	T	0.64461	0.2600	N	0.19112	0.55	0.26258	N	0.978613	B;B	0.30511	0.282;0.153	B;B	0.21546	0.035;0.028	T	0.55496	-0.8132	10	0.48119	T	0.1	-8.2654	4.7982	0.13282	0.2971:0.1786:0.5244:0.0	.	427;394	E9PEA4;P07911	.;UROM_HUMAN	M	394;427;427;394;372;394	ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M	ENSP00000306279:T394M	T	-	2	0	UMOD	20264950	0.970000	0.33590	1.000000	0.80357	0.841000	0.47740	-0.116000	0.10724	0.409000	0.25649	0.491000	0.48974	ACG		0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		Missense_Mutation	A	20357449	G	A	20357449	5	1	68	1	0	0	0	0	0	0	1	0	16976	1159	40	1	769	1	UMOD	16	20357449	Splice_Site	SNP	G	TCGA-06-0878-01A-01W-0424-08	20042438	20357449	69997304	44	4554											
NOD2	64127	broad.mit.edu	37	chr16	50731207	50731209	+	In_Frame_Del	DEL	TCC	TCC	-																															tgaggaggaaagagcaagtgTcctcctcggacattctccgg																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:50731207_50731209delTCC	ENST00000300589.2	+	1	158_160	c.53_55delTCC	c.(52-57)gtcctc>gtc	p.L20del	NOD2_ENST00000526417.2_Intron	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	20					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGCAAGTGTCCTCCTCGGACA	0.601																																						uc002egm.1																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(52-57)gtcctc>gtc		Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.																																				SO:0001651	inframe_deletion	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50731207_50731209delTCC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.53_55delTCC	16.37:g.50731210_50731212delTCC	ENSP00000300589:p.Leu20del					NOD2_uc010cbj.1_Intron|NOD2_uc021tia.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	p.L20del	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			0	158_160	+		all_cancers(37;0.0156)	20					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	In_Frame_Del	DEL	ENST00000300589.2	37	c.53_55delTCC	CCDS10746.1																																																																																				0.601	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		-	50731209	TCC	-	50731207	7	5	68	1	0	1	0	1	0	0	0	0	10517	1667	58	0	55	0	NOD2	16	50731207	In_Frame_Del	DEL	TCC	TCGA-06-0878-01A-01W-0424-08	30373758	50731207	39623546	45	4555											
ATP2C2	9914	broad.mit.edu	37	chr16	84472802	84472802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccattccagagggtctGcccatcgtcgtcatggtgac	6	9	13	13	3	2	2	1	1	1	1	5	2	3	2	3	3	1	0	3	3	0	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:84472802G>A	ENST00000262429.4	+	12	1106	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	ATP2C2_ENST00000416219.2_Silent_p.L339L|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	339					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGAGGGTCTGCCCATCGTCG	0.572																																						uc010chj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1015-1017)ctG>ctA		Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.							69	76	74					16																	84472802		2083	4202	6285	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84472802G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1017G>A	16.37:g.84472802G>A						ATP2C2_uc002fhx.3_Silent_p.L339L|ATP2C2_uc002fhy.3_Silent_p.L356L|ATP2C2_uc002fhz.3_Silent_p.L188L	p.L339L	NM_014861	NP_055676	O75185	AT2C2_HUMAN			11	1106	+			339					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1017G>A	CCDS42207.1																																																																																				0.572	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		A	84472802	G	A	84472802	2	1	68	1	0	0	0	0	0	0	0	1	1144	1306	46	3		3	ATP2C2	16	84472802	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	33741595	84472802	5881951	46	4556											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	9	6	12	14	3	1	0	0	0	1	0	2	2	1	1	4	4	2	4	4	4	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						uc002omp.4																			1	Substitution - Missense(1)	p.A2493V(2)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	7486	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40395919	G	A	40395919	3	1	68	1	0	0	0	0	1	0	0	0	5778	1203	42	3	8827	3	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		40395919	18733064	47	4557											
RAB4B	53916	broad.mit.edu	37	chr19	41292794	41292794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctctggcattcagtacGgggatgcgtccctccgccag	5	9	14	13	3	2	0	1	0	1	0	4	1	4	1	3	4	2	3	3	4	1	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41292794G>A	ENST00000594800.1	+	7	728	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.G190R|RAB4B_ENST00000357052.2_Missense_Mutation_p.G190R			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	190					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATTCAGTACGGGGATGCGTC	0.682																																						uc002opd.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(568-570)Ggg>Agg		Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.							55	53	54					19																	41292794		2203	4300	6503	SO:0001583	missense	53916				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:41292794G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.568G>A	19.37:g.41292794G>A	ENSP00000470246:p.Gly190Arg					RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.G216R	p.G190R	NM_016154	NP_057238	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	725	+			190					P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.568G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.017471	0.54576	.	.	ENSG00000167578	ENST00000357052	T	0.62941	-0.01	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.929	T	0.72590	-0.4247	10	0.56958	D	0.05	.	16.7486	0.85479	0.0:0.0:1.0:0.0	.	225;190	P61018-2;P61018	.;RAB4B_HUMAN	R	190	ENSP00000349560:G190R	ENSP00000349560:G190R	G	+	1	0	RAB4B	45984634	1.000000	0.71417	0.155000	0.22561	0.003000	0.03518	9.367000	0.97148	2.474000	0.83562	0.502000	0.49764	GGG		0.682	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		A	41292794	G	A	41292794	3	1	68	1	0	0	0	0	1	0	0	0	12947	1116	39	2	594	2	RAB4B	19	41292794	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	896875	41292794	17836189	48	4558											
AXL	558	broad.mit.edu	37	chr19	41726597	41726597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaatatcacaggtgccCggggactcacgggcaccctt	9	6	13	13	2	2	0	2	0	0	0	2	2	2	2	2	5	1	1	2	5	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41726597C>T	ENST00000301178.4	+	2	332	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.R48W|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	48	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R48W(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CACAGGTGCCCGGGGACTCAC	0.622																																						uc010ehj.3																			1	Substitution - Missense(1)	p.R48W(2)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(142-144)Cgg>Tgg		Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.							30	30	30					19																	41726597		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726597C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.142C>T	19.37:g.41726597C>T	ENSP00000301178:p.Arg48Trp					AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.3_Missense_Mutation_p.R48W	p.R48W	NM_021913	NP_068713	P30530	UFO_HUMAN			1	332	+			48			Ig-like C2-type 1.|Interaction with GAS6.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.142C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118142	0.56505	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.66995	-0.24;-0.24	4.59	-0.816	0.10839	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110120	0.35936	N	0.002895	T	0.75004	0.3791	M	0.62266	1.93	0.29131	N	0.879629	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.71080	-0.4696	10	0.72032	D	0.01	-20.2776	11.2407	0.48968	0.6484:0.3516:0.0:0.0	.	48;48	P30530-2;P30530	.;UFO_HUMAN	W	48	ENSP00000301178:R48W;ENSP00000351995:R48W	ENSP00000301178:R48W	R	+	1	2	AXL	46418437	0.988000	0.35896	0.950000	0.38849	0.355000	0.29361	0.008000	0.13197	0.115000	0.18071	0.386000	0.25728	CGG		0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			T	41726597	C	T	41726597	3	4	68	1	0	0	0	0	1	0	0	0	1238	643	23	2	148	2	AXL	19	41726597	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	433803	41726597	17402386	49	4559											
ERCC1	2067	broad.mit.edu	37	chr19	45912970	45912970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctcgtgcaggacatcaAacagcctccgggcctggatg	9	6	14	12	2	1	0	1	0	0	0	3	2	2	2	3	4	3	2	3	4	1	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:45912970A>G	ENST00000300853.3	-	10	1448	c.857T>C	c.(856-858)tTt>tCt	p.F286S	CD3EAP_ENST00000309424.3_3'UTR|ERCC1_ENST00000423698.2_Missense_Mutation_p.F214S|ERCC1_ENST00000589165.1_Missense_Mutation_p.F286S|ERCC1_ENST00000340192.7_Missense_Mutation_p.F262S|ERCC1_ENST00000588738.1_5'UTR|CD3EAP_ENST00000589804.1_3'UTR|ERCC1_ENST00000591636.1_Silent_p.L206L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	286	HhH2, dimerization with ERCC4.				cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAGGACATCAAACAGCCTCCG	0.502								Nucleotide excision repair (NER)																														uc002pbs.2																			0		p.L285M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(856-858)tTt>tCt	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.							43	42	43					19																	45912970		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45912970A>G		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.857T>C	19.37:g.45912970A>G	ENSP00000300853:p.Phe286Ser					CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.2_Missense_Mutation_p.F262S|ERCC1_uc002pbu.2_Missense_Mutation_p.F214S	p.F286S	NM_001983	NP_001974	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	9	1003	-		Ovarian(192;0.051)|all_neural(266;0.112)	286					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.857T>C	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375234	0.42105	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698	T;T;T	0.43688	0.94;0.94;0.94	5.25	4.22	0.49857	RuvA domain 2-like (1);Helix-hairpin-helix motif (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	.	.	.	.	T	0.35480	0.0933	L	0.41824	1.3	0.80722	D	1	B;B;B	0.23249	0.065;0.082;0.082	B;B;B	0.30716	0.022;0.119;0.081	T	0.15037	-1.0451	9	0.54805	T	0.06	.	8.4825	0.33052	0.8275:0.0:0.0:0.1725	.	214;262;286	B3KRR0;Q96S40;P07992	.;.;ERCC1_HUMAN	S	286;262;214	ENSP00000300853:F286S;ENSP00000345203:F262S;ENSP00000394875:F214S	ENSP00000300853:F286S	F	-	2	0	ERCC1	50604810	1.000000	0.71417	0.983000	0.44433	0.761000	0.43186	1.508000	0.35769	0.808000	0.34231	0.459000	0.35465	TTT		0.502	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		G	45912970	A	G	45912970	3	3	68	1	0	0	0	0	1	0	0	0	5212	14	1	4	40	4	ERCC1	19	45912970	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	4186373	45912970	13216013	50	4560											
NCR1	9437	broad.mit.edu	37	chr19	55420770	55420770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgggaaggtccaggcggaGttccccctgggccctgtgac	6	7	15	13	2	0	1	0	1	0	0	2	3	2	3	4	5	1	1	4	5	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:55420770G>C	ENST00000291890.4	+	4	560	c.522G>C	c.(520-522)gaG>gaC	p.E174D	NCR1_ENST00000350790.5_Missense_Mutation_p.E79D|NCR1_ENST00000338835.5_Missense_Mutation_p.E174D|NCR1_ENST00000594765.1_Missense_Mutation_p.E174D|NCR1_ENST00000598576.1_Missense_Mutation_p.E162D|NCR1_ENST00000447255.1_Missense_Mutation_p.E174D|NCR1_ENST00000357397.5_Missense_Mutation_p.E67D	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	174	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCAGGCGGAGTTCCCCCTGG	0.572																																						uc002qib.2																			0		p.A173V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(520-522)gaG>gaC		Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.							101	91	94					19																	55420770		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420770G>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.522G>C	19.37:g.55420770G>C	ENSP00000291890:p.Glu174Asp					NCR1_uc002qic.2_Missense_Mutation_p.E174D|NCR1_uc002qie.2_Missense_Mutation_p.E174D|NCR1_uc002qid.2_Missense_Mutation_p.E79D|NCR1_uc002qif.2_Missense_Mutation_p.E79D|NCR1_uc010esj.2_Missense_Mutation_p.E67D	p.E174D	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	560	+			174			Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.522G>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365139	0.24684	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09	3.53	-0.037	0.13886	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.008400	0.07978	N	0.985136	T	0.02610	0.0079	L	0.35723	1.085	0.09310	N	1	B;B;B;B;B;B	0.33807	0.007;0.426;0.002;0.294;0.0;0.0	B;B;B;B;B;B	0.35655	0.021;0.124;0.013;0.207;0.005;0.006	T	0.48281	-0.9049	10	0.16420	T	0.52	.	4.041	0.09751	0.235:0.2327:0.5323:0.0	.	67;79;174;79;174;174	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	D	174;174;174;79;67	ENSP00000291890:E174D;ENSP00000404434:E174D;ENSP00000339515:E174D;ENSP00000344358:E79D;ENSP00000349972:E67D	ENSP00000291890:E174D	E	+	3	2	NCR1	60112582	0.037000	0.19845	0.069000	0.20011	0.022000	0.10575	0.002000	0.13061	0.112000	0.17975	-0.216000	0.12614	GAG		0.572	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			C	55420770	G	C	55420770	3	2	68	1	0	0	0	0	1	0	0	0	10237	1020	36	5	536	5	NCR1	19	55420770	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	9507800	55420770	3708213	51	4561											
CHGB	1114	broad.mit.edu	37	chr20	5903131	5903131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggaggaggacatccaagGcccaacaaaggcagacacag	16	1	14	10	0	0	1	0	0	0	1	1	4	1	4	2	6	1	1	2	6	3	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:5903131G>A	ENST00000378961.4	+	4	545	c.341G>A	c.(340-342)gGc>gAc	p.G114D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	114						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACATCCAAGGCCCAACAAAG	0.607																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(340-342)gGc>gAc		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							35	37	36					20																	5903131		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903131G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.341G>A	20.37:g.5903131G>A	ENSP00000368244:p.Gly114Asp					CHGB_uc010zqz.2_Intron	p.G114D	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	647	+			114					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.341G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711362	0.48517	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01821	4.62;4.62	5.24	-0.0597	0.13792	.	1.655590	0.03111	N	0.162434	T	0.02688	0.0081	M	0.62723	1.935	0.09310	N	1	B	0.15719	0.014	B	0.20767	0.031	T	0.48896	-0.8994	10	0.32370	T	0.25	-3.4764	1.3717	0.02212	0.3001:0.1366:0.4227:0.1405	.	114	P05060	SCG1_HUMAN	D	114;94	ENSP00000368244:G114D;ENSP00000416643:G94D	ENSP00000368244:G114D	G	+	2	0	CHGB	5851131	0.002000	0.14202	0.002000	0.10522	0.041000	0.13682	-0.064000	0.11636	-0.169000	0.10834	0.563000	0.77884	GGC		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		A	5903131	G	A	5903131	3	1	68	1	0	0	0	0	1	0	0	0	3339	1203	42	3	355	3	CHGB	20	5903131	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		5903131	57122389	52	4562											
LSM14B	149986	broad.mit.edu	37	chr20	60697790	60697790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctccaaggcgcagatccGctacgagggcattctctaca	10	8	9	14	3	2	1	0	0	2	1	5	2	3	1	2	2	2	3	2	2	3	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:60697790G>A	ENST00000279068.6	+	1	228	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LSM14B_ENST00000253001.4_Missense_Mutation_p.R23H|LSM14B_ENST00000370915.1_Missense_Mutation_p.R23H	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	23					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCAGATCCGCTACGAGGGC	0.706																																						uc010gjy.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(67-69)cGc>cAc		Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.							53	51	52					20																	60697790		2202	4300	6502	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60697790G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.68G>A	20.37:g.60697790G>A	ENSP00000279068:p.Arg23His					LSM14B_uc002ybt.2_Missense_Mutation_p.R23H|LSM14B_uc010gjx.1_Missense_Mutation_p.R23H|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	p.R23H	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		0	274	+	Breast(26;3.97e-09)		23					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.68G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783750	0.90282	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.71222	-0.39;-0.55;-0.52	2.91	2.91	0.33838	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	U	0.000000	D	0.84745	0.5540	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.972	D;D;P	0.83275	0.995;0.996;0.895	D	0.87853	0.2659	10	0.87932	D	0	.	13.6799	0.62476	0.0:0.0:1.0:0.0	.	23;23;23	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	H	23	ENSP00000279068:R23H;ENSP00000253001:R23H;ENSP00000383172:R23H	ENSP00000253001:R23H	R	+	2	0	LSM14B	60131185	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.988000	0.63863	1.329000	0.45376	0.305000	0.20034	CGC		0.706	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		A	60697790	G	A	60697790	3	1	68	1	0	0	0	0	1	0	0	0	9055	1087	38	1	70	1	LSM14B	20	60697790	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	54794659	60697790	2327730	53	4563											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852408	31852408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccattgtacgatgggcGgcagcagccatatccatagc	9	9	10	13	2	0	0	0	0	0	0	3	1	3	0	4	2	4	3	4	2	3	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:31852408G>A	ENST00000390689.2	-	1	255	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACGATGGGCGGCAGCAGCCA	0.488																																						uc011acx.2																			0		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(229-231)Cgc>Tgc		Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.							157	172	167					21																	31852408		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852408G>A	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"Keratin associated proteins"	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.229C>T	21.37:g.31852408G>A	ENSP00000375108:p.Arg77Cys						p.R77C	NM_181607	NP_853638	Q8IUB9	KR191_HUMAN			0	229	-			77			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.229C>T	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783161	0.16189	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.10860	2.83	4.92	0.754	0.18410	.	0.611706	0.13217	N	0.404631	T	0.07728	0.0194	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.31971	-0.9924	9	0.87932	D	0	.	4.5027	0.11872	0.0831:0.2785:0.4951:0.1432	.	77	Q8IUB9	KR191_HUMAN	C	77;68	ENSP00000375108:R77C	ENSP00000375108:R77C	R	-	1	0	KRTAP19-1	30774279	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.047000	0.14056	0.021000	0.15133	0.591000	0.81541	CGC		0.488	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			A	31852408	G	A	31852408	3	1	68	1	0	0	0	0	1	0	0	0	8528	1116	39	2	45	2	KRTAP19-1	21	31852408	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		31852408	16277487	54	4564											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007726	32007726	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatggtggctatggataTggctgctgccgcccatcttg	5	12	14	10	1	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	3	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:32007726T>A	ENST00000330798.2	+	1	172	c.144T>A	c.(142-144)taT>taA	p.Y48*		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	48						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GCTATGGATATGGCTGCTGCC	0.557																																						uc011adg.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(142-144)taT>taA		Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.							184	149	161					21																	32007726		2203	4300	6503	SO:0001587	stop_gained	337976					intermediate filament		g.chr21:32007726T>A	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.144T>A	21.37:g.32007726T>A	ENSP00000330746:p.Tyr48*						p.Y48*	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			0	144	+			48						Nonsense_Mutation	SNP	ENST00000330798.2	37	c.144T>A	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954800	0.34471	.	.	ENSG00000184032	ENST00000330798	.	.	.	4.85	-3.64	0.04515	.	0.210007	0.23384	U	0.048775	.	.	.	.	.	.	0.26145	N	0.980224	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.7201	0.02910	0.1359:0.3388:0.1627:0.3626	.	.	.	.	X	48	.	ENSP00000330746:Y48X	Y	+	3	2	KRTAP20-2	30929597	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.407000	0.07178	-0.763000	0.04658	-1.027000	0.02421	TAT		0.557	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			A	32007726	T	A	32007726	4	1	68	1	0	0	0	0	0	1	0	0	8537	1471	51	5	146	5	KRTAP20-2	21	32007726	Nonsense_Mutation	SNP	T	TCGA-06-0878-01A-01W-0424-08	155318	32007726	16122169	55	4565											
BCL2L13	23786	broad.mit.edu	37	chr22	18178948	18178948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgggaatgtacactggagaCcacagttcatgccagcggct	10	8	12	11	2	1	1	1	0	0	1	2	3	1	2	2	3	3	3	2	3	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:18178948C>T	ENST00000317582.5	+	5	775	c.428C>T	c.(427-429)aCc>aTc	p.T143I	BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.T143I|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Missense_Mutation_p.T143I|BCL2L13_ENST00000418951.2_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACACTGGAGACCACAGTTCAT	0.383																																						uc002zmw.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(427-429)aCc>aTc		Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.							104	102	103					22																	18178948		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18178948C>T	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.428C>T	22.37:g.18178948C>T	ENSP00000318883:p.Thr143Ile					BCL2L13_uc002zmu.3_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_Intron	p.T143I	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	4	646	+		all_epithelial(15;0.123)	143					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.428C>T	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918093	0.33815	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680	T;T;T	0.09073	3.02;3.02;3.02	5.79	4.77	0.60923	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.250874	0.41001	D	0.000970	T	0.09642	0.0237	L	0.50919	1.6	0.80722	D	1	B;B	0.20052	0.032;0.041	B;B	0.23716	0.037;0.048	T	0.12016	-1.0564	10	0.16420	T	0.52	-3.9604	13.1368	0.59413	0.0:0.9262:0.0:0.0738	.	143;143	Q9BXK5;Q9BXK5-2	B2L13_HUMAN;.	I	143	ENSP00000382682:T143I;ENSP00000318883:T143I;ENSP00000434764:T143I	ENSP00000318883:T143I	T	+	2	0	BCL2L13	16558948	0.982000	0.34865	0.782000	0.31804	0.972000	0.66771	3.166000	0.50785	1.448000	0.47680	0.655000	0.94253	ACC		0.383	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		T	18178948	C	T	18178948	3	4	68	1	0	0	0	0	1	0	0	0	1371	507	18	3	442	3	BCL2L13	22	18178948	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		18178948	33125618	56	4566											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcccttcttccagaCgaccgccatgatggcccccg	6	7	11	17	3	1	2	0	1	1	1	2	3	2	2	6	2	1	1	6	2	0	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:37482392C>T	ENST00000346753.3	-	8	1047	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V302I|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.V311I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V302I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V302I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	311	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667																																						uc003aqt.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(904-906)Gtc>Atc		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							28	27	27					22																	37482392		2202	4299	6501	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37482392C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.931G>A	22.37:g.37482392C>T	ENSP00000334962:p.Val311Ile					TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			7	966	-			311			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.904G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972292	0.74246	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.55	4.55	0.56014	CUB (1);	0.181737	0.37219	N	0.002199	T	0.64327	0.2588	L	0.34521	1.04	0.43304	D	0.9953	D;D;D	0.76494	0.999;0.995;0.991	P;P;P	0.62089	0.898;0.654;0.452	T	0.67952	-0.5537	10	0.56958	D	0.05	.	16.3113	0.82872	0.0:1.0:0.0:0.0	.	311;302;311	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	I	302;311;302;302;311	ENSP00000371211:V302I;ENSP00000334962:V311I;ENSP00000385453:V302I;ENSP00000384964:V302I;ENSP00000397691:V311I	ENSP00000334962:V311I	V	-	1	0	TMPRSS6	35812338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.185000	0.58330	2.071000	0.62044	0.655000	0.94253	GTC		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37482392	C	T	37482392	3	4	68	1	0	0	0	0	1	0	0	0	16248	536	19	1	1548	1	TMPRSS6	22	37482392	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	19303444	37482392	13822174	57	4567											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189513	47189513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacgctggggaggacgacGatgagctcctggccatggcg	7	5	19	10	4	0	1	0	1	0	0	1	6	1	4	2	6	1	2	2	6	0	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:47189513G>A	ENST00000337137.4	+	3	401	c.235G>A	c.(235-237)Gat>Aat	p.D79N	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D32N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D60N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D32N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D79N|TBC1D22A_ENST00000472791.1_3'UTR	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	79							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGACGACGATGAGCTCCT	0.647																																						uc003bib.3																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(235-237)Gat>Aat		Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.							64	56	59					22																	47189513		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189513G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.235G>A	22.37:g.47189513G>A	ENSP00000336724:p.Asp79Asn					TBC1D22A_uc010haf.3_Missense_Mutation_p.D49N|TBC1D22A_uc003bie.3_Missense_Mutation_p.D60N|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.D32N	p.D79N	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	401	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	79					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.235G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653131	0.67472	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.55052	1.48;0.54;1.51;1.59;1.68	4.7	4.7	0.59300	.	0.048492	0.85682	D	0.000000	T	0.65015	0.2651	M	0.76002	2.32	0.58432	D	0.999995	D;B;D;D	0.65815	0.991;0.209;0.995;0.991	P;B;P;P	0.52957	0.545;0.041;0.714;0.545	T	0.68390	-0.5421	10	0.48119	T	0.1	-1.2791	16.7435	0.85466	0.0:0.0:1.0:0.0	.	79;60;79;79	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	N	79;32;79;60;32	ENSP00000336724:D79N;ENSP00000370383:D32N;ENSP00000384036:D79N;ENSP00000347932:D60N;ENSP00000385634:D32N	ENSP00000336724:D79N	D	+	1	0	TBC1D22A	45568177	1.000000	0.71417	0.036000	0.18154	0.059000	0.15707	8.844000	0.92147	2.591000	0.87537	0.609000	0.83330	GAT		0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		A	47189513	G	A	47189513	3	1	68	1	0	0	0	0	1	0	0	0	15608	1058	37	2	245	2	TBC1D22A	22	47189513	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	9707121	47189513	4115053	58	4568											
SCML2	10389	broad.mit.edu	37	chrX	18275064	18275064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatcacactgcagactgtGgcagaagttctcaagaaagc	13	9	10	9	0	2	3	2	0	1	3	3	3	2	3	0	1	2	4	0	1	4	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:18275064G>A	ENST00000251900.4	-	11	1519	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	SCML2_ENST00000398048.3_Missense_Mutation_p.H190Y	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	454					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGCAGACTGTGGCAGAAGTTC	0.468																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1360-1362)Cac>Tac		Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.							155	137	143					X																	18275064		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18275064G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1360C>T	X.37:g.18275064G>A	ENSP00000251900:p.His454Tyr					SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	p.H454Y	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			10	1517	-	Hepatocellular(33;0.183)		454					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1360C>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326766	0.81690	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.43294	0.95;0.95	5.27	5.27	0.74061	.	0.307314	0.31685	N	0.007231	T	0.62405	0.2425	M	0.72118	2.19	0.58432	D	0.99999	D;D;D	0.65815	0.993;0.995;0.984	P;P;P	0.62560	0.904;0.874;0.904	T	0.63967	-0.6517	10	0.46703	T	0.11	.	18.0173	0.89245	0.0:0.0:1.0:0.0	.	422;190;454	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	Y	454;190;422	ENSP00000251900:H454Y;ENSP00000381126:H190Y	ENSP00000251900:H454Y	H	-	1	0	SCML2	18184985	1.000000	0.71417	0.075000	0.20258	0.631000	0.37964	9.383000	0.97214	2.188000	0.69820	0.513000	0.50165	CAC		0.468	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		A	18275064	G	A	18275064	3	1	68	1	0	0	0	0	1	0	0	0	13910	1348	47	3	762	3	SCML2	23	18275064	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		18275064	136995496	59	4569											
KLHL13	90293	broad.mit.edu	37	chrX	117054239	117054239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcactagcagatgccAtcatgactctatgcacaggg	13	9	9	10	0	3	2	2	1	1	1	3	2	3	2	1	1	3	3	1	1	3	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:117054239A>T	ENST00000262820.3	-	3	1244	c.335T>A	c.(334-336)aTg>aAg	p.M112K	KLHL13_ENST00000371882.1_Missense_Mutation_p.M61K|KLHL13_ENST00000540167.1_Missense_Mutation_p.M96K|KLHL13_ENST00000371876.1_Missense_Mutation_p.M61K|KLHL13_ENST00000541812.1_Missense_Mutation_p.M96K|KLHL13_ENST00000469946.1_Missense_Mutation_p.M61K|KLHL13_ENST00000371878.1_Missense_Mutation_p.M61K|KLHL13_ENST00000545703.1_Missense_Mutation_p.M70K|KLHL13_ENST00000539496.1_Missense_Mutation_p.M115K	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	112	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGATGCCATCATGACTCT	0.408																																						uc011mtp.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(343-345)aTg>aAg		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.							193	155	167					X																	117054239		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117054239A>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.335T>A	X.37:g.117054239A>T	ENSP00000262820:p.Met112Lys					KLHL13_uc004eqk.3_Missense_Mutation_p.M61K|KLHL13_uc004eql.3_Missense_Mutation_p.M112K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.M106K|KLHL13_uc011mtq.2_Missense_Mutation_p.M96K|KLHL13_uc004eqm.3_Missense_Mutation_p.M70K|KLHL13_uc022cde.1_Missense_Mutation_p.M96K	p.M115K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			3	477	-			112			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.344T>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	a	27.8	4.864116	0.91511	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.83	4.83	0.62350	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.038197	0.85682	D	0.000000	T	0.77280	0.4107	M	0.68952	2.095	0.80722	D	1	D;P;B;B	0.56521	0.976;0.548;0.228;0.408	P;B;B;P	0.53689	0.732;0.228;0.377;0.511	T	0.80750	-0.1243	10	0.87932	D	0	.	13.5803	0.61898	1.0:0.0:0.0:0.0	.	96;115;106;112	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	K	61;61;61;61;96;96;115;112;70;61	ENSP00000360949:M61K;ENSP00000360943:M61K;ENSP00000360945:M61K;ENSP00000412640:M61K;ENSP00000444450:M96K;ENSP00000441029:M96K;ENSP00000443191:M115K;ENSP00000262820:M112K;ENSP00000440707:M70K;ENSP00000419803:M61K	ENSP00000262820:M112K	M	-	2	0	KLHL13	116938267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.136000	0.94489	1.779000	0.52309	0.438000	0.28831	ATG		0.408	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117054239	A	T	117054239	3	4	68	1	0	0	0	0	1	0	0	0	8369	217	8	5	1652	5	KLHL13	23	117054239	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	98779175	117054239	38216321	60	4570											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285085	28285085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaggcctatggggtgccGgacgccagcgcccactccat	7	5	13	16	4	0	0	0	0	0	0	1	2	1	1	6	4	2	0	6	4	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:28285085G>A	ENST00000373894.3	+	8	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	SMPDL3B_ENST00000549094.1_Silent_p.P320P|XKR8_ENST00000373884.5_5'Flank|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	368					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATGGGGTGCCGGACGCCAGCG	0.617																																						uc001bpg.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1102-1104)ccG>ccA		Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.							49	50	50					1																	28285085		2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285085G>A	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1104G>A	1.37:g.28285085G>A						SMPDL3B_uc010ofq.2_Silent_p.P162P|SMPDL3B_uc010ofr.2_Silent_p.P320P|XKR8_uc001bph.1_5'Flank	p.P368P	NM_014474	NP_055289	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	7	1295	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	368					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1104G>A	CCDS30655.1																																																																																				0.617	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		A	28285085	G	A	28285085	2	1	69	1	0	0	0	0	0	0	0	1	14809	1103	39	2		2	SMPDL3B	1	28285085	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		28285085	220965536	1	4571											
BRDT	676	broad.mit.edu	37	chr1	92479806	92479806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagtgacattatgaCaatgtttgaaaacaactttg	15	13	6	7	0	1	3	1	3	0	0	1	3	1	3	1	0	2	1	1	0	6	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:92479806C>A	ENST00000362005.3	+	20	3237	c.2819C>A	c.(2818-2820)aCa>aAa	p.T940K	BRDT_ENST00000370389.2_Missense_Mutation_p.T867K|BRDT_ENST00000399546.2_Missense_Mutation_p.T940K|BRDT_ENST00000402388.1_Missense_Mutation_p.T940K|BRDT_ENST00000394530.3_Missense_Mutation_p.T894K	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	940					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GACATTATGACAATGTTTGAA	0.269																																						uc001dol.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(2818-2820)aCa>aAa		Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.							48	48	48					1																	92479806		2202	4273	6475	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92479806C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2819C>A	1.37:g.92479806C>A	ENSP00000354568:p.Thr940Lys					BRDT_uc010osz.2_Missense_Mutation_p.T944K|BRDT_uc001dok.4_Missense_Mutation_p.T940K|BRDT_uc009wdf.3_Missense_Mutation_p.T867K|BRDT_uc010otb.2_Missense_Mutation_p.T894K|BRDT_uc010ota.2_Missense_Mutation_p.T894K|BRDT_uc001dom.4_Missense_Mutation_p.T940K	p.T940K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	19	3237	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	940					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.2819C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563148	0.45694	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.07021	3.23;3.24;3.23;3.28;3.23	5.25	4.14	0.48551	.	0.129515	0.34676	N	0.003762	T	0.08133	0.0203	L	0.48362	1.52	0.33625	D	0.605352	D;D;D;D	0.58620	0.983;0.983;0.983;0.983	P;P;P;P	0.51016	0.656;0.656;0.656;0.656	T	0.01899	-1.1251	10	0.72032	D	0.01	-16.049	13.6641	0.62384	0.0:0.9085:0.0:0.0915	.	894;894;944;940	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	K	940;867;940;894;940	ENSP00000354568:T940K;ENSP00000359416:T867K;ENSP00000387822:T940K;ENSP00000378038:T894K;ENSP00000384051:T940K	ENSP00000354568:T940K	T	+	2	0	BRDT	92252394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.445000	0.52921	2.457000	0.83068	0.563000	0.77884	ACA		0.269	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		A	92479806	C	A	92479806	3	1	69	1	0	0	0	0	1	0	0	0	1508	478	17	5	2889	5	BRDT	1	92479806	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	64194721	92479806	156770815	2	4572											
COL11A1	1301	broad.mit.edu	37	chr1	103345386	103345386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgacagtggtaggtgaaAttttgccgagcagaggcagt	11	10	15	5	1	0	4	0	3	0	1	0	5	0	4	1	3	2	3	1	3	2	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:103345386A>G	ENST00000370096.3	-	66	5439	c.5127T>C	c.(5125-5127)aaT>aaC	p.N1709N	COL11A1_ENST00000353414.4_Silent_p.N1670N|COL11A1_ENST00000358392.2_Silent_p.N1721N|COL11A1_ENST00000512756.1_Silent_p.N1593N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1709	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTAGGTGAAATTTTGCCGAG	0.423																																						uc001dum.3																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(5161-5163)aaT>aaC		Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.							118	105	109					1																	103345386		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345386A>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5127T>C	1.37:g.103345386A>G						COL11A1_uc001duk.3_Silent_p.N905N|COL11A1_uc001dul.3_Silent_p.N1709N|COL11A1_uc001dun.3_Silent_p.N1670N|COL11A1_uc009weh.3_Silent_p.N1593N	p.N1721N	NM_080629	NP_542196	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	65	5481	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1709			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.5163T>C	CCDS778.1																																																																																				0.423	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		G	103345386	A	G	103345386	2	3	69	1	0	0	0	0	0	0	0	1	3667	98	4	4		4	COL11A1	1	103345386	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	10865580	103345386	145905235	3	4573											
SLC6A17	388662	broad.mit.edu	37	chr1	110740739	110740739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaactgggccatggcActcctgatcaccctcatcgt	7	10	7	17	1	2	1	2	1	0	0	5	1	4	1	5	2	1	1	5	2	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:110740739A>G	ENST00000331565.4	+	12	2342	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	619					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGGCCATGGCACTCCTGATCA	0.657																																						uc009wfq.3																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1855-1857)gcA>gcG		Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.							88	77	81					1																	110740739		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110740739A>G		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1857A>G	1.37:g.110740739A>G							p.A619A	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	11	2318	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	619					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.1857A>G	CCDS30799.1																																																																																				0.657	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		G	110740739	A	G	110740739	2	3	69	1	0	0	0	0	0	0	0	1	14680	146	6	4		4	SLC6A17	1	110740739	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	7395353	110740739	138509882	4	4574											
NCF2	4688	broad.mit.edu	37	chr1	183542320	183542320	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcaatcccacctacCgtcgccttgcctaggtaatc	9	9	8	15	2	0	1	0	1	0	0	3	1	1	1	5	1	4	3	5	1	4	4	rs147657171		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:183542320C>T	ENST00000367535.3	-	5	860	c.609G>A	c.(607-609)acG>acA	p.T203T	NCF2_ENST00000413720.1_Splice_Site_p.T158T|NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Splice_Site_p.T203T	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	203					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCCCACCTACCGTCGCCTTGC	0.572																																						uc001gqj.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.e5+1		Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.		C	,,,	0,4406		0,0,2203	186	173	178		609,609,,474	4.2	1	1	dbSNP_134	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice,coding-synonymous-near-splice,intron,coding-synonymous-near-splice	NCF2	NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	203/527,203/527,,158/482	183542320	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183542320C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.609+1G>A	1.37:g.183542320C>T						NCF2_uc010pod.2_Splice_Site_p.T158_splice|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Splice_Site_p.T203_splice	p.T203_splice	NM_000433	NP_001121123	P19878	NCF2_HUMAN			5	884	-			203					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	37	c.609_splice	CCDS1356.1																																																																																				0.572	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433	Silent	T	183542320	C	T	183542320	5	4	69	1	0	0	0	0	0	0	1	0	10217	666	23	2	1015	2	NCF2	1	183542320	Splice_Site	SNP	C	TCGA-06-0879-01A-01W-0424-08	72801581	183542320	65708301	5	4575											
GALNT2	2590	broad.mit.edu	37	chr1	230314000	230314000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaccccattaaaaagaaaGaccttcatcacagcaatgga	17	8	6	10	0	2	3	2	1	0	2	2	4	2	4	3	1	1	1	3	1	5	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:230314000G>C	ENST00000366672.4	+	2	235	c.163G>C	c.(163-165)Gac>Cac	p.D55H	GALNT2_ENST00000543760.1_Missense_Mutation_p.D17H|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	55					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAAAAAGAAAGACCTTCATCA	0.473																																						uc010pwa.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(163-165)Gac>Cac		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.							99	90	93					1																	230314000		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230314000G>C	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.163G>C	1.37:g.230314000G>C	ENSP00000355632:p.Asp55His					GALNT2_uc010pvy.1_Missense_Mutation_p.D17H|GALNT2_uc010pvz.1_Intron	p.D55H	NM_004481	NP_004472	Q10471	GALT2_HUMAN			1	235	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	55					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.163G>C	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984287	0.53827	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.57273	0.41;0.44	5.71	5.71	0.89125	.	2.346620	0.01102	N	0.005387	T	0.57666	0.2069	L	0.53249	1.67	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21245	-1.0251	10	0.44086	T	0.13	.	15.3495	0.74370	0.0:0.0:1.0:0.0	.	55;17	Q10471;G3V1S6	GALT2_HUMAN;.	H	17;55;55	ENSP00000445017:D17H;ENSP00000355632:D55H	ENSP00000355632:D55H	D	+	1	0	GALNT2	228380623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.606000	0.67641	2.694000	0.91930	0.591000	0.81541	GAC		0.473	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		C	230314000	G	C	230314000	3	2	69	1	0	0	0	0	1	0	0	0	6213	942	33	5	169	5	GALNT2	1	230314000	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	46771680	230314000	18936621	6	4576											
LGALS8	3964	broad.mit.edu	37	chr1	236704996	236704996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtctggaactgacagagAtaagtagagaaaatgtaaat	18	9	10	4	0	1	3	0	1	1	2	1	6	1	4	0	1	1	2	0	1	8	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:236704996A>G	ENST00000366584.4	+	6	1074	c.508A>G	c.(508-510)Ata>Gta	p.I170V	LGALS8_ENST00000341872.6_Missense_Mutation_p.I170V|LGALS8_ENST00000323938.6_Missense_Mutation_p.I143V|LGALS8_ENST00000527974.1_Missense_Mutation_p.I170V|LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000526589.1_Missense_Mutation_p.I170V|LGALS8_ENST00000352231.2_Missense_Mutation_p.I170V|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.I170V|LGALS8_ENST00000450372.2_Missense_Mutation_p.I170V|LGALS8_ENST00000416919.2_Intron	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	170					plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGACAGAGATAAGTAGAGA	0.308																																						uc001hxz.2																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(508-510)Ata>Gta		Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.							28	30	29					1																	236704996		2198	4296	6494	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236704996A>G	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.508A>G	1.37:g.236704996A>G	ENSP00000355543:p.Ile170Val					LGALS8_uc001hxw.2_Missense_Mutation_p.I170V|LGALS8_uc001hxy.2_Missense_Mutation_p.I170V|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.I170V|LGALS8_uc001hyc.2_Intron	p.I170V	NM_201543	NP_963838	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	889	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	170					O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.508A>G	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	A	4.717	0.133381	0.09032	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000323938;ENST00000526634	T;T;T;T;T;T;T;T;T	0.06218	3.72;3.72;3.55;3.72;3.7;3.72;3.7;3.33;3.7	5.14	4.0	0.46444	.	0.463835	0.23426	N	0.048312	T	0.03390	0.0098	N	0.08118	0	0.21184	N	0.999762	B;B	0.31274	0.101;0.317	B;B	0.33454	0.034;0.164	T	0.46884	-0.9159	10	0.16896	T	0.51	-6.4298	8.9253	0.35637	0.8119:0.1881:0.0:0.0	.	170;170	O00214;O00214-2	LEG8_HUMAN;.	V	170;170;170;170;170;170;170;170;143;170	ENSP00000431398:I170V;ENSP00000309576:I170V;ENSP00000385999:I170V;ENSP00000435460:I170V;ENSP00000342139:I170V;ENSP00000408657:I170V;ENSP00000355543:I170V;ENSP00000434860:I143V;ENSP00000437040:I170V	ENSP00000434860:I143V	I	+	1	0	LGALS8	234771619	1.000000	0.71417	0.150000	0.22450	0.223000	0.24884	2.544000	0.45761	0.948000	0.37687	0.533000	0.62120	ATA		0.308	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		G	236704996	A	G	236704996	3	3	69	1	0	0	0	0	1	0	0	0	8747	333	12	4	526	4	LGALS8	1	236704996	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	6390996	236704996	12545625	7	4577											
VN1R5	317705	broad.mit.edu	37	chr1	247419512	247419512	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggttttattaccatataaAtcttcttttatccacaagcc	11	17	3	10	0	2	0	0	0	2	0	3	0	3	0	3	1	2	1	3	1	7	8			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:247419512A>G								RP11-488L18.8 (14387 upstream) : Y_RNA (38624 downstream)																							TACCATATAAATCTTCTTTTA	0.353																																						uc010pyu.2																			0											c.e2-1		Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.							148	149	148					1																	247419512		1839	4078	5917	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419512A>G																													1.37:g.247419512A>G							p.I46_splice	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	136	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	47						Missense_Mutation	SNP		37	c.136_splice																																																																																				0	0.353									G	247419512	A	G	247419512	1	3	69	0	1	0	0	0	0	0	0	0	17178	101	4	4		4	VN1R5	1	247419512	IGR	SNP	A	TCGA-06-0879-01A-01W-0424-08	10714516	247419512	1831109	8	4578											
FAM136A	84908	broad.mit.edu	37	chr2	70524589	70524589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtcgttgcaatgcatGgtgcaccgggccaggcggtc	5	10	15	11	3	0	0	0	0	0	0	2	0	0	0	2	4	3	5	2	4	1	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:70524589G>A	ENST00000037869.3	-	3	327	c.249C>T	c.(247-249)acC>acT	p.T83T	FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Silent_p.T190T	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	83						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGCAATGCATGGTGCACCGGG	0.512																																						uc002sgq.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(247-249)acC>acT		Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.							86	82	83					2																	70524589		2203	4300	6503	SO:0001819	synonymous_variant	84908					mitochondrion	protein binding	g.chr2:70524589G>A	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"hypothetical protein FLJ14668"					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.249C>T	2.37:g.70524589G>A						FAM136A_uc010fdp.3_Non-coding_Transcript	p.T83T	NM_032822	NP_116211	Q96C01	F136A_HUMAN			2	326	-			83					Q96SS3	Silent	SNP	ENST00000037869.3	37	c.249C>T	CCDS1904.1																																																																																				0.512	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		A	70524589	G	A	70524589	2	1	69	1	0	0	0	0	0	0	0	1	5450	1335	47	3		3	FAM136A	2	70524589	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		70524589	172674784	9	4579											
TEKT4	150483	broad.mit.edu	37	chr2	95537709	95537709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaacggctggagcgcGccctggacgccacagaggtg	10	3	16	12	4	0	2	0	0	0	2	0	4	0	4	2	4	3	2	2	4	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:95537709G>A	ENST00000295201.4	+	1	522	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	TEKT4_ENST00000427593.2_Missense_Mutation_p.A129T|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	129					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTGGAGCGCGCCCTGGACGC	0.657																																						uc002stw.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(385-387)Gcc>Acc		Homo sapiens tektin 4 (TEKT4), mRNA.							17	15	16					2																	95537709		2190	4281	6471	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537709G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.385G>A	2.37:g.95537709G>A	ENSP00000295201:p.Ala129Thr					LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	p.A129T	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			0	478	+			129						Missense_Mutation	SNP	ENST00000295201.4	37	c.385G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	16.94	3.261583	0.59431	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.03301	3.98;3.98	1.84	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.85373	2.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.00862	-1.1536	10	0.51188	T	0.08	-1.2637	9.2813	0.37731	0.0:0.0:1.0:0.0	.	129	Q8WW24	TEKT4_HUMAN	T	129	ENSP00000295201:A129T;ENSP00000407596:A129T	ENSP00000295201:A129T	A	+	1	0	TEKT4	94901436	1.000000	0.71417	0.995000	0.50966	0.173000	0.22820	3.661000	0.54503	1.015000	0.39444	0.456000	0.33151	GCC		0.657	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95537709	G	A	95537709	3	1	69	1	0	0	0	0	1	0	0	0	15752	1087	38	1	387	1	TEKT4	2	95537709	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	25013120	95537709	147661664	10	4580											
SCN1A	6323	broad.mit.edu	37	chr2	166847871	166847871	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacatggtcagatcagtttTttctgtaatagagttttcat	10	17	9	5	0	4	2	3	0	1	2	4	3	4	3	0	2	0	3	0	2	2	7			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:166847871T>A	ENST00000303395.4	-	26	5913	c.5914A>T	c.(5914-5916)Aaa>Taa	p.K1972*	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.K1961*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.K1944*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.K1972*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1972					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATCAGTTTTTTCTGTAATA	0.363																																						uc002udo.4																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5914-5916)Aaa>Taa		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						92	86	88					2																	166847871		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166847871T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5914A>T	2.37:g.166847871T>A	ENSP00000303540:p.Lys1972*					SCN1A_uc010fpk.3_Nonsense_Mutation_p.K1944*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.K1961*	p.K1972*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN			27	6141	-			1972					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.5914A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	42	9.375012	0.99151	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.67	5.67	0.87782	.	0.103523	0.42294	D	0.000734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9152	0.79508	0.0:0.0:0.0:1.0	.	.	.	.	X	1972;1972;1961;1944	.	ENSP00000303540:K1972X	K	-	1	0	SCN1A	166556117	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	3.773000	0.55333	2.159000	0.67721	0.397000	0.26171	AAA		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166847871	T	A	166847871	4	1	69	1	0	0	0	0	0	1	0	0	13914	1850	64	5	119	5	SCN1A	2	166847871	Nonsense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	71310162	166847871	76351502	11	4581											
OSBPL6	114880	broad.mit.edu	37	chr2	179253861	179253861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaagcagtgtttgcatttGcaaactcacatttgtcaagg	13	12	8	8	0	2	0	2	0	0	0	2	0	2	0	0	1	4	4	0	1	4	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:179253861G>A	ENST00000190611.4	+	21	2658	c.2282G>A	c.(2281-2283)tGc>tAc	p.C761Y	OSBPL6_ENST00000409631.1_Missense_Mutation_p.C725Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.C725Y|OSBPL6_ENST00000409045.3_Missense_Mutation_p.C730Y|OSBPL6_ENST00000392505.2_Missense_Mutation_p.C786Y|OSBPL6_ENST00000315022.2_Missense_Mutation_p.C765Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	761					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTTTGCATTTGCAAACTCACA	0.333																																						uc002uly.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2356-2358)tGc>tAc		Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.							100	85	90					2																	179253861		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179253861G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2282G>A	2.37:g.179253861G>A	ENSP00000190611:p.Cys761Tyr					MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.C761Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.C730Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.C725Y|OSBPL6_uc002uma.3_Missense_Mutation_p.C765Y	p.C786Y	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2901	+			761					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2357G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739764	0.89573	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	H	0.96080	3.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.993;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.993;0.946;0.998;0.988	T	0.82285	-0.0533	10	0.87932	D	0	-13.1457	20.0965	0.97849	0.0:0.0:1.0:0.0	.	730;765;725;786;761	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	Y	786;725;730;761;725;765	ENSP00000376293:C786Y;ENSP00000352713:C725Y;ENSP00000387248:C730Y;ENSP00000190611:C761Y;ENSP00000386885:C725Y;ENSP00000318723:C765Y	ENSP00000190611:C761Y	C	+	2	0	OSBPL6	178962107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	TGC		0.333	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		A	179253861	G	A	179253861	3	1	69	1	0	0	0	0	1	0	0	0	11281	1319	46	3	2478	3	OSBPL6	2	179253861	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	12405990	179253861	63945512	12	4582											
TTN	7273	broad.mit.edu	37	chr2	179634524	179634524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttccctgcacaactatCttgaacttttcactcatctc	9	16	3	13	0	4	1	2	1	2	0	6	1	5	1	1	0	3	2	1	0	3	6			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:179634524C>A	ENST00000591111.1	-	37	9008	c.8784G>T	c.(8782-8784)aaG>aaT	p.K2928N	TTN_ENST00000342992.6_Missense_Mutation_p.K2928N|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K2882N|TTN_ENST00000342175.6_Missense_Mutation_p.K2882N|TTN_ENST00000589042.1_Missense_Mutation_p.K2928N|TTN_ENST00000359218.5_Missense_Mutation_p.K2882N|TTN_ENST00000360870.5_Missense_Mutation_p.K2928N			Q8WZ42	TITIN_HUMAN	titin	13258	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAACTATCTTGAACTTTT	0.458																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8782-8784)aaG>aaT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							210	204	206					2																	179634524		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634524C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8784G>T	2.37:g.179634524C>A	ENSP00000465570:p.Lys2928Asn					TTN_uc021vsz.1_Missense_Mutation_p.K2882N|TTN_uc021vta.1_Missense_Mutation_p.K2882N|TTN_uc021vtb.1_Missense_Mutation_p.K2882N|TTN_uc002unb.2_Missense_Mutation_p.K2928N	p.K2928N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	9009	-			2928			Ig-like 16.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8784G>T		.	.	.	.	.	.	.	.	.	.	C	10.98	1.505239	0.26949	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.93	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68081	0.2962	L	0.28504	0.86	0.26188	N	0.979622	D;D;D;D;D	0.76494	0.994;0.994;0.994;0.98;0.999	P;P;P;P;D	0.69479	0.819;0.819;0.819;0.833;0.964	T	0.56080	-0.8038	9	0.87932	D	0	.	6.0225	0.19636	0.0:0.5481:0.0:0.4519	.	2882;2882;2882;2928;2928	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	2928;2882;2882;2882;2882;2928	ENSP00000343764:K2928N;ENSP00000434586:K2882N;ENSP00000340554:K2882N;ENSP00000352154:K2882N;ENSP00000354117:K2928N	ENSP00000340554:K2882N	K	-	3	2	TTN	179342769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.038000	0.30254	0.847000	0.35167	0.563000	0.77884	AAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179634524	C	A	179634524	3	1	69	1	0	0	0	0	1	0	0	0	16732	912	32	5	102508	5	TTN	2	179634524	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	380663	179634524	63564849	13	4583											
ZSWIM2	151112	broad.mit.edu	37	chr2	187692829	187692829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttcccccatacagttaCtataccttttagacaaacta	14	14	2	11	0	0	1	0	0	0	1	1	1	1	1	3	0	4	1	3	0	8	9			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:187692829C>G	ENST00000295131.2	-	9	1823	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	595					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATACAGTTACTATACCTTTT	0.338																																						uc002upu.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1783-1785)aGt>aCt		Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.							96	95	95					2																	187692829		2202	4300	6502	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187692829C>G	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1784G>C	2.37:g.187692829C>G	ENSP00000295131:p.Ser595Thr						p.S595T	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1824	-			595					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1784G>C	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	c	3.911	-0.020036	0.07634	.	.	ENSG00000163012	ENST00000295131	T	0.21361	2.01	5.45	0.0641	0.14351	.	0.597661	0.15919	N	0.238200	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	10	0.72032	D	0.01	-3.0957	4.361	0.11203	0.0:0.2647:0.1634:0.5719	.	595	Q8NEG5	ZSWM2_HUMAN	T	595	ENSP00000295131:S595T	ENSP00000295131:S595T	S	-	2	0	ZSWIM2	187401074	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.328000	0.07945	0.061000	0.16311	-0.578000	0.04140	AGT		0.338	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		G	187692829	C	G	187692829	3	3	69	1	0	0	0	0	1	0	0	0	18238	565	20	5	121	5	ZSWIM2	2	187692829	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	8058305	187692829	55506544	14	4584											
FAM126B	285172	broad.mit.edu	37	chr2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttatccttggctgaaCgcccagttgctactttcctt	5	18	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	3	8	rs138872845		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	382						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1144-1146)cGt>cAt		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.		C	HIS/ARG	0,4406		0,0,2203	102	100	101		1145	5.8	1	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM126B	NM_173822.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/531	201846441	1,13005	2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846441C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1145G>A	2.37:g.201846441C>T	ENSP00000393667:p.Arg382His					FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1333	-			382					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1145G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927537	0.52759	0.0	1.16E-4	ENSG00000155744	ENST00000418596	T	0.80393	-1.37	5.76	5.76	0.90799	.	0.052330	0.85682	D	0.000000	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.84551	0.0644	10	0.40728	T	0.16	-9.4248	19.9664	0.97271	0.0:1.0:0.0:0.0	.	188;382	B3KUG1;Q8IXS8	.;F126B_HUMAN	H	382	ENSP00000393667:R382H	ENSP00000393667:R382H	R	-	2	0	FAM126B	201554686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.718000	0.92993	0.655000	0.94253	CGT		0.493	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		T	201846441	C	T	201846441	3	4	69	1	0	0	0	0	1	0	0	0	5430	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	14153612	201846441	41352932	15	4585											
CHRNG	1146	broad.mit.edu	37	chr2	233405386	233405386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagggtgccgtccacCatggtgtggcggccggatat	5	9	17	10	3	0	1	0	1	0	0	1	2	1	2	4	5	2	1	4	5	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:233405386C>T	ENST00000389494.3	+	4	336	c.315C>T	c.(313-315)acC>acT	p.T105T	CHRNG_ENST00000389492.3_Silent_p.T105T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	105					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TGCCGTCCACCATGGTGTGGC	0.652																																						uc002vsx.1																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(313-315)acC>acT		Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.							44	35	38					2																	233405386		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233405386C>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.315C>T	2.37:g.233405386C>T						CHRNG_uc010fyd.3_Silent_p.T105T|CHRNG_uc010fye.1_Silent_p.T105T	p.T105T	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	3	336	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	105					B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.315C>T	CCDS33400.1																																																																																				0.652	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		T	233405386	C	T	233405386	2	4	69	1	0	0	0	0	0	0	0	1	3396	581	21	3		3	CHRNG	2	233405386	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	31558945	233405386	9793987	16	4586											
ITPR1	3708	broad.mit.edu	37	chr3	4716846	4716846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggccatattggactGtgtacatgtgacaacaatct	10	13	8	10	0	2	1	0	1	2	0	2	2	2	2	2	2	2	1	2	2	4	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:4716846G>A	ENST00000443694.2	+	20	2648	c.2648G>A	c.(2647-2649)tGt>tAt	p.C883Y	ITPR1_ENST00000423119.2_Missense_Mutation_p.C898Y|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.C898Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C898Y|ITPR1_ENST00000302640.8_Missense_Mutation_p.C883Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.C883Y			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	898					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATATTGGACTGTGTACATGTG	0.393																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2647-2649)tGt>tAt		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							146	133	137					3																	4716846		1911	4121	6032	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4716846G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2648G>A	3.37:g.4716846G>A	ENSP00000401671:p.Cys883Tyr					ITPR1_uc021wsi.1_Missense_Mutation_p.C898Y|ITPR1_uc021wsj.1_Missense_Mutation_p.C883Y|ITPR1_uc011asu.2_Intron	p.C883Y	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	21	2998	+			898					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2648G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407544	0.83340	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91792	-2.9;-2.9;-2.9;-2.9;-2.91;-2.9	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.75615	2.305	0.80722	D	1	B;B;P	0.47762	0.175;0.124;0.9	B;B;P	0.51657	0.077;0.063;0.676	D	0.90483	0.4461	10	0.02654	T	1	.	18.6234	0.91328	0.0:0.0:1.0:0.0	.	883;898;898	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Y	898;883;898;898;898;883;883	ENSP00000306253:C883Y;ENSP00000346595:C898Y;ENSP00000405934:C898Y;ENSP00000349597:C898Y;ENSP00000397885:C883Y;ENSP00000401671:C883Y	ENSP00000306253:C883Y	C	+	2	0	ITPR1	4691846	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.242000	0.78210	2.641000	0.89580	0.591000	0.81541	TGT		0.393	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4716846	G	A	4716846	3	1	69	1	0	0	0	0	1	0	0	0	7920	1377	48	3	2775	3	ITPR1	3	4716846	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		4716846	193305584	17	4587											
SRGAP3	9901	broad.mit.edu	37	chr3	9034619	9034619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccccaaagccgtaatcCgagatgtgctccgtggggga	9	6	12	14	3	0	1	0	0	0	1	2	3	2	2	6	2	2	2	6	2	2	1	rs552319348		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:9034619C>T	ENST00000383836.3	-	20	2956	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	SRGAP3_ENST00000360413.3_Silent_p.S819S	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	843					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCCGTAATCCGAGATGTGCT	0.557			T	RAF1	pilocytic astrocytoma								C|||	1	0.000199681	0	0	5008	,	,		18959	0		0	False		,,,				2504	0.001					uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2527-2529)tcG>tcA		Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.							82	77	79					3																	9034619		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034619C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2529G>A	3.37:g.9034619C>T						SRGAP3_uc003brg.1_Silent_p.S819S	p.S843S	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	3205	-			843					Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.2529G>A	CCDS2572.1																																																																																				0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			T	9034619	C	T	9034619	2	4	69	1	0	0	0	0	0	0	0	1	15146	639	23	2		2	SRGAP3	3	9034619	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	4317773	9034619	188987811	18	4588											
SLC6A6	6533	broad.mit.edu	37	chr3	14509599	14509599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatgtgtaacttagggaCtgtatgctgctgggatgcct	9	13	12	7	0	0	0	0	0	0	0	0	2	0	2	1	2	4	4	1	2	4	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:14509599C>A	ENST00000454876.2	+	9	1304	c.975C>A	c.(973-975)gaC>gaA	p.D325E	SLC6A6_ENST00000360861.3_Missense_Mutation_p.D325E			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	325					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AACTTAGGGACTGTATGCTGC	0.453											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010heg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(973-975)gaC>gaA		Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.							199	196	197					3																	14509599		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14509599C>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.975C>A	3.37:g.14509599C>A	ENSP00000398063:p.Asp325Glu		OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	SLC6A6_uc003byq.3_Missense_Mutation_p.D325E|SLC6A6_uc003byr.3_Intron	p.D325E	NM_001134367	NP_003034	P31641	SC6A6_HUMAN			8	1274	+			325					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.975C>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105755	0.94292	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.79454	-1.27;-1.27	5.35	5.35	0.76521	.	0.136806	0.64402	D	0.000005	D	0.93465	0.7915	H	0.99143	4.445	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.96252	0.9184	10	0.87932	D	0	.	19.0628	0.93100	0.0:1.0:0.0:0.0	.	325	P31641	SC6A6_HUMAN	E	325	ENSP00000398063:D325E;ENSP00000354107:D325E	ENSP00000354107:D325E	D	+	3	2	SLC6A6	14484603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.499000	0.84300	0.467000	0.42956	GAC		0.453	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		A	14509599	C	A	14509599	3	1	69	1	0	0	0	0	1	0	0	0	14688	564	20	5	1005	5	SLC6A6	3	14509599	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	5474980	14509599	183512831	19	4589											
ADCY5	111	broad.mit.edu	37	chr3	123003491	123003491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccattgaggaagtaggtCatcatctcgcctttgccctt	7	13	8	13	1	3	1	2	1	1	0	5	2	4	2	4	2	1	1	4	2	2	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:123003491C>A	ENST00000462833.1	-	21	4962	c.3750G>T	c.(3748-3750)atG>atT	p.M1250I	ADCY5_ENST00000491190.1_Missense_Mutation_p.M908I|RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000309879.5_Missense_Mutation_p.M900I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1250					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGAAGTAGGTCATCATCTCGC	0.607																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3748-3750)atG>atT		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							180	160	166					3																	123003491		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123003491C>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3750G>T	3.37:g.123003491C>A	ENSP00000419361:p.Met1250Ile					ADCY5_uc021xdd.1_Missense_Mutation_p.M900I|ADCY5_uc003egg.2_Missense_Mutation_p.M908I	p.M1250I	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	20	3750	-			1250					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3750G>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195765	0.22037	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.26957	1.7;1.7;1.7	5.0	5.0	0.66597	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.056505	0.64402	D	0.000002	T	0.14399	0.0348	N	0.13003	0.285	0.47065	D	0.999305	B;B	0.09022	0.002;0.0	B;B	0.14023	0.01;0.004	T	0.08006	-1.0743	10	0.33141	T	0.24	.	8.9264	0.35643	0.1407:0.5909:0.2684:0.0	.	1250;908	O95622;B3KWA8	ADCY5_HUMAN;.	I	1250;908;900	ENSP00000419361:M1250I;ENSP00000418537:M908I;ENSP00000308685:M900I	ENSP00000308685:M900I	M	-	3	0	ADCY5	124486181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.133000	0.42093	2.595000	0.87683	0.655000	0.94253	ATG		0.607	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123003491	C	A	123003491	3	1	69	1	0	0	0	0	1	0	0	0	297	826	29	5	39	5	ADCY5	3	123003491	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	108493892	123003491	75018939	20	4590											
ATP2C1	27032	broad.mit.edu	37	chr3	130672707	130672707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagcttgacaggtgagAcaacgccttgttctaaggtg	10	10	12	9	1	1	2	0	2	1	1	2	3	2	2	2	2	2	2	2	2	2	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:130672707A>G	ENST00000510168.1	+	9	1124	c.574A>G	c.(574-576)Aca>Gca	p.T192A	ATP2C1_ENST00000508532.1_Missense_Mutation_p.T192A|ATP2C1_ENST00000328560.8_Missense_Mutation_p.T192A|ATP2C1_ENST00000422190.2_Missense_Mutation_p.T192A|ATP2C1_ENST00000507488.2_Missense_Mutation_p.T176A|ATP2C1_ENST00000513801.1_Missense_Mutation_p.T176A|ATP2C1_ENST00000393221.4_Missense_Mutation_p.T226A|ATP2C1_ENST00000504381.1_Missense_Mutation_p.T137A|ATP2C1_ENST00000428331.2_Missense_Mutation_p.T192A|ATP2C1_ENST00000505330.1_Missense_Mutation_p.T176A|ATP2C1_ENST00000533801.2_Missense_Mutation_p.T187A|ATP2C1_ENST00000359644.3_Missense_Mutation_p.T192A|ATP2C1_ENST00000504948.1_Missense_Mutation_p.T176A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	192					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACAGGTGAGACAACGCCTTG	0.438									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc011bli.2																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(676-678)Aca>Gca		Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						141	134	137					3																	130672707		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130672707A>G	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.574A>G	3.37:g.130672707A>G	ENSP00000427461:p.Thr192Ala					ATP2C1_uc011blg.2_Missense_Mutation_p.T226A|ATP2C1_uc011blh.2_Missense_Mutation_p.T187A|ATP2C1_uc003enk.3_Missense_Mutation_p.T176A|ATP2C1_uc003enl.3_Missense_Mutation_p.T192A|ATP2C1_uc003enm.3_Missense_Mutation_p.T192A|ATP2C1_uc003enn.3_Missense_Mutation_p.T176A|ATP2C1_uc003eno.3_Missense_Mutation_p.T192A|ATP2C1_uc003enp.3_Missense_Mutation_p.T192A|ATP2C1_uc003ent.3_Missense_Mutation_p.T192A|ATP2C1_uc003ens.3_Missense_Mutation_p.T192A	p.T226A	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN			7	972	+			192					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.676A>G	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267973	0.59540	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B;B	0.28026	0.165;0.198;0.106;0.165;0.106;0.016;0.02	B;B;B;B;B;B;B	0.31751	0.075;0.123;0.135;0.075;0.135;0.044;0.074	T	0.80386	-0.1404	10	0.33940	T	0.23	.	15.4614	0.75359	1.0:0.0:0.0:0.0	.	226;187;226;192;226;192;192	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	A	176;137;176;226;187;192;192;176;176;192;192;192;192;191	ENSP00000423774:T176A;ENSP00000425320:T137A;ENSP00000421326:T176A;ENSP00000376914:T226A;ENSP00000432956:T187A;ENSP00000427461:T192A;ENSP00000424783:T192A;ENSP00000423330:T176A;ENSP00000422872:T176A;ENSP00000329664:T192A;ENSP00000395809:T192A;ENSP00000352665:T192A;ENSP00000402677:T192A	ENSP00000329664:T192A	T	+	1	0	ATP2C1	132155397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.062000	0.61559	0.528000	0.53228	ACA		0.438	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		G	130672707	A	G	130672707	3	3	69	1	0	0	0	0	1	0	0	0	1143	275	10	4	604	4	ATP2C1	3	130672707	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	7669216	130672707	67349723	21	4591											
AADACL2	344752	broad.mit.edu	37	chr3	151475174	151475174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttacagaatttgccactaaCctatattcttacttgtcaac	12	15	4	10	0	2	1	1	0	1	1	2	1	2	1	2	0	5	1	2	0	7	8			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:151475174C>T	ENST00000356517.3	+	5	1107	c.998C>T	c.(997-999)aCc>aTc	p.T333I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	333						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGCCACTAACCTATATTCTT	0.378																																						uc003ezc.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(997-999)aCc>aTc		Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.							144	136	139					3																	151475174		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475174C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.998C>T	3.37:g.151475174C>T	ENSP00000348911:p.Thr333Ile					MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.T120I	p.T333I	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1118	+			333					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.998C>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	35	5.596848	0.96602	.	.	ENSG00000197953	ENST00000356517	T	0.13901	2.55	5.01	5.01	0.66863	Alpha/beta hydrolase fold-3 (1);	0.057542	0.64402	D	0.000001	T	0.48040	0.1478	M	0.91972	3.26	0.47819	D	0.999528	D	0.89917	1.0	D	0.87578	0.998	T	0.59836	-0.7379	10	0.87932	D	0	-3.7693	18.0851	0.89455	0.0:1.0:0.0:0.0	.	333	Q6P093	ADCL2_HUMAN	I	333	ENSP00000348911:T333I	ENSP00000348911:T333I	T	+	2	0	AADACL2	152957864	1.000000	0.71417	0.023000	0.16930	0.978000	0.69477	6.423000	0.73361	2.613000	0.88420	0.591000	0.81541	ACC		0.378	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		T	151475174	C	T	151475174	3	4	69	1	0	0	0	0	1	0	0	0	11	507	18	3	1016	3	AADACL2	3	151475174	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	20802467	151475174	46547256	22	4592											
PIK3CA	5290	broad.mit.edu	37	chr3	178928081	178928081	+	Missense_Mutation	SNP	A	A	C																															ccagtacctcatggattagaAgatttgctgaaccctattgg																								rs397517200		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:178928081A>C	ENST00000263967.3	+	8	1516	c.1359A>C	c.(1357-1359)gaA>gaC	p.E453D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGGATTAGAAGATTTGCTGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		3	Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(9)|p.E453Q(3)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)	endometrium(2)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1357-1359)gaA>gaC		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							136	129	131					3																	178928081		1828	4091	5919	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928081A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1359A>C	3.37:g.178928081A>C	ENSP00000263967:p.Glu453Asp	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E453D	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		7	1516	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1359A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.495300	0.26774	.	.	ENSG00000121879	ENST00000263967	T	0.69926	-0.44	5.64	4.49	0.54785	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	N	0.05383	-0.06	0.58432	D	0.999999	B	0.12630	0.006	B	0.17098	0.017	T	0.15607	-1.0431	10	0.13108	T	0.6	-22.2286	7.7372	0.28821	0.763:0.0:0.237:0.0	.	453	P42336	PK3CA_HUMAN	D	453	ENSP00000263967:E453D	ENSP00000263967:E453D	E	+	3	2	PIK3CA	180410775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.017000	0.40981	0.989000	0.38761	0.533000	0.62120	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			C	178928081	A	C	178928081	3	2	69	1	0	0	0	0	1	0	0	0	11913	69	3	5	1385	5	PIK3CA	3	178928081	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	27452907	178928081	19094349	23	4593	6	2									
PIK3CA	5290	broad.mit.edu	37	chr3	178928087	178928101	+	In_Frame_Del	DEL	GCTGAACCCTATTGG	GCTGAACCCTATTGG	-																															cctcatggattagaagatttGctgaaccctattggtgttac																								rs397517200		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:178928087_178928101delGCTGAACCCTATTGG	ENST00000263967.3	+	8	1522_1536	c.1365_1379delGCTGAACCCTATTGG	c.(1363-1380)ttgctgaaccctattggt>ttt	p.455_460LLNPIG>F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	455	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H450fs*9(1)|p.N457K(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAGAAGATTTGCTGAACCCTATTGGTGTTACTGGA	0.33		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		3	Substitution - Missense(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.N457K(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.P449_L455del(1)	breast(2)|endometrium(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1363-1380)ttgctgaaccctattggt>ttt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928087_178928101delGCTGAACCCTATTGG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1365_1379delGCTGAACCCTATTGG	3.37:g.178928087_178928101delGCTGAACCCTATTGG	ENSP00000263967:p.Leu455_Gly460delinsPhe	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.455_460LLNPIG>F	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		7	1522_1536	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		455			C2 PI3K-type.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.1365_1379delGCTGAACCCTATTGG	CCDS43171.1																																																																																				0.33	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			-	178928101	GCTGAACCCTATTGG	-	178928087	7	5	69	1	0	1	0	1	0	0	0	0	11913	1310	46	0	1391	0	PIK3CA	3	178928087	In_Frame_Del	DEL	GCTGAACCCTATTGG	TCGA-06-0879-01A-01W-0424-08	6	178928087	19094343	24	4594	6	2									
FBN2	2201	broad.mit.edu	37	chr5	127728897	127728897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgccaggagaaaagcCattgcctccagggatgggga	12	4	13	12	1	0	1	0	0	0	1	1	4	1	3	5	4	3	0	5	4	3	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:127728897C>T	ENST00000508053.1	-	16	2370	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	FBN2_ENST00000262464.4_Missense_Mutation_p.G466S|FBN2_ENST00000508989.1_Missense_Mutation_p.G433S			P35556	FBN2_HUMAN	fibrillin 2	466					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAGAAAAGCCATTGCCTCCA	0.587																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1396-1398)Ggc>Agc		Homo sapiens fibrillin 2 (FBN2), mRNA.							85	87	86					5																	127728897		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728897C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1396G>A	5.37:g.127728897C>T	ENSP00000424571:p.Gly466Ser					FBN2_uc003kuv.2_Missense_Mutation_p.G433S	p.G466S	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1835	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	466					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1396G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886326	0.51908	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.85484	-1.79;-1.79;-1.99	3.98	3.98	0.46160	.	0.179046	0.38959	N	0.001516	D	0.86732	0.6003	M	0.87381	2.88	0.47037	D	0.999297	P;P	0.52842	0.956;0.956	B;B	0.42653	0.394;0.394	D	0.86746	0.1957	10	0.21540	T	0.41	.	17.3754	0.87391	0.0:1.0:0.0:0.0	.	433;466	D6RJI3;P35556	.;FBN2_HUMAN	S	466;466;433	ENSP00000262464:G466S;ENSP00000424571:G466S;ENSP00000425596:G433S	ENSP00000262464:G466S	G	-	1	0	FBN2	127756796	1.000000	0.71417	0.989000	0.46669	0.947000	0.59692	5.498000	0.66931	2.505000	0.84491	0.563000	0.77884	GGC		0.587	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127728897	C	T	127728897	3	4	69	1	0	0	0	0	1	0	0	0	5703	594	21	3	7566	3	FBN2	5	127728897	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		127728897	53186363	25	4595											
PCDHB3	56132	broad.mit.edu	37	chr5	140481943	140481943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagaacggctccgcGccctgcaccgagctggtgcc	5	5	13	18	5	0	1	0	0	0	1	1	2	1	1	5	2	5	5	5	2	1	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140481943G>A	ENST00000231130.2	+	1	1710	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCTCCGCGCCCTGCACCG	0.711																																						uc003lio.3																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1708-1710)gcG>gcA		Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.							12	16	15					5																	140481943		2135	4184	6319	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481943G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1710G>A	5.37:g.140481943G>A						BC016751_uc003lin.3_5'Flank	p.A570A	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1710	+			570			Cadherin 6.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1710G>A	CCDS4245.1																																																																																				0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140481943	G	A	140481943	2	1	69	1	0	0	0	0	0	0	0	1	11543	1074	38	1		1	PCDHB3	5	140481943	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	12753046	140481943	40433317	26	4596											
PCDHB8	56128	broad.mit.edu	37	chr5	140558277	140558277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactggatggtggctctcCgcccagatctggcactgctc	6	9	12	14	1	2	1	0	0	2	1	4	2	2	2	2	4	2	4	2	4	0	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140558277C>T	ENST00000239444.2	+	1	907	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P221L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.522																																						uc011dai.2																			1	Substitution - Missense(1)	p.P221L(2)	large_intestine(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(661-663)cCg>cTg		Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.							104	135	125					5																	140558277		2203	4297	6500	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558277C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.662C>T	5.37:g.140558277C>T	ENSP00000239444:p.Pro221Leu					PCDHB16_uc003liv.3_5'Flank	p.P221L	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	907	+			221			Cadherin 2.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.662C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	c	13.10	2.136943	0.37728	.	.	ENSG00000120322	ENST00000239444	T	0.57436	0.4	4.25	3.36	0.38483	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75722	0.3888	H	0.97240	3.965	0.43678	D	0.996112	D	0.60160	0.987	P	0.54401	0.751	T	0.82784	-0.0286	9	0.66056	D	0.02	.	12.0568	0.53540	0.0:0.9123:0.0:0.0877	.	221	Q9UN66	PCDB8_HUMAN	L	221	ENSP00000239444:P221L	ENSP00000239444:P221L	P	+	2	0	PCDHB8	140538461	1.000000	0.71417	0.789000	0.31954	0.150000	0.21749	4.629000	0.61290	0.740000	0.32651	0.585000	0.79938	CCG		0.522	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		T	140558277	C	T	140558277	3	4	69	1	0	0	0	0	1	0	0	0	11548	652	23	2	664	2	PCDHB8	5	140558277	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	76334	140558277	40356983	27	4597											
PCDHB13	56123	broad.mit.edu	37	chr5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactggatggtggctctcCgcccagatctggcactgctc	6	9	12	14	1	2	1	0	0	2	1	4	2	2	2	2	4	2	4	2	4	0	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140594357C>T	ENST00000341948.4	+	1	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P221L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532																																						uc003lja.1																			1	Substitution - Missense(1)	p.P221L(2)	ovary(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(661-663)cCg>cTg		Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.							97	104	102					5																	140594357		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594357C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.662C>T	5.37:g.140594357C>T	ENSP00000345491:p.Pro221Leu						p.P221L	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	849	+			221			Cadherin 2.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.662C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992937	0.93167	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00792	5.69	3.51	2.6	0.31112	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	H	0.95982	3.75	0.46478	D	0.999069	D	0.65815	0.995	D	0.71870	0.975	T	0.01162	-1.1432	9	0.66056	D	0.02	.	11.0844	0.48078	0.0:0.9018:0.0:0.0982	.	221	Q9Y5F0	PCDBD_HUMAN	L	221	ENSP00000345491:P221L	ENSP00000345491:P221L	P	+	2	0	PCDHB13	140574541	0.999000	0.42202	0.006000	0.13384	0.808000	0.45660	4.915000	0.63355	0.548000	0.28955	0.306000	0.20318	CCG		0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140594357	C	T	140594357	3	4	69	1	0	0	0	0	1	0	0	0	11538	652	23	2	664	2	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	36080	140594357	40320903	28	4598											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782948	140782948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctggaagtaaaaattaaCgaaatcgcggttcctggagc	14	9	11	7	3	1	0	0	0	1	0	3	3	2	2	1	3	2	2	1	3	6	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140782948C>T	ENST00000573521.1	+	1	429	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	143	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAATTAACGAAATCGCGG	0.473																																						uc003lkh.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(427-429)aaC>aaT		Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.							78	81	80					5																	140782948		1924	4137	6061	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782948C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.429C>T	5.37:g.140782948C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.N143N	p.N143N	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	429	+			143			Cadherin 2.		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.429C>T	CCDS58981.1																																																																																				0.473	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		T	140782948	C	T	140782948	2	4	69	1	0	0	0	0	0	0	0	1	11561	535	19	1		1	PCDHGA9	5	140782948	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	188591	140782948	40132312	29	4599											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687124	148687124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgctgcggaaaaagcGtttcgggcagtgggccaagc	8	8	14	11	3	0	0	0	0	0	0	2	1	1	1	2	3	4	3	2	3	3	2	rs370079883		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:148687124G>A	ENST00000296721.4	+	7	793	c.695G>A	c.(694-696)cGt>cAt	p.R232H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R232H|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	232	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAAAGCGTTTCGGGCAG	0.627													G|||	1	0.000199681	0	0	5008	,	,		18661	0		0	False		,,,				2504	0.001					uc003lqh.3																			0		p.R232C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(694-696)cGt>cAt		Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	71	57	62		695,695	4.9	1	5		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFAP1L1	NM_001146337.1,NM_152406.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	232/726,232/769	148687124	1,13005	2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148687124G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.695G>A	5.37:g.148687124G>A	ENSP00000296721:p.Arg232His					AFAP1L1_uc003lqg.4_Missense_Mutation_p.R232H|AFAP1L1_uc010jgy.3_Missense_Mutation_p.R232H	p.R232H	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	826	+			232			PH 1.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.695G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297806	0.95574	0.0	1.16E-4	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.76060	-0.99;-0.99	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.099859	0.64402	D	0.000001	D	0.86818	0.6024	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.87103	0.2180	10	0.46703	T	0.11	-24.1694	18.243	0.89974	0.0:0.0:1.0:0.0	.	232;232;232	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	H	232	ENSP00000296721:R232H;ENSP00000424427:R232H	ENSP00000296721:R232H	R	+	2	0	AFAP1L1	148667317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.543000	0.85770	0.561000	0.74099	CGT		0.627	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		A	148687124	G	A	148687124	3	1	69	1	0	0	0	0	1	0	0	0	354	1145	40	1	721	1	AFAP1L1	5	148687124	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	7904176	148687124	32228136	30	4600											
FAT2	2196	broad.mit.edu	37	chr5	150901299	150901299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccccacatgccacaCgtacacatggaccccagcag	10	5	7	19	1	0	0	0	0	0	0	1	1	1	1	6	1	4	2	6	1	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:150901299C>T	ENST00000261800.5	-	18	10867	c.10855G>A	c.(10855-10857)Gtg>Atg	p.V3619M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3619	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGCCACACGTACACATGG	0.627																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10855-10857)Gtg>Atg		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							47	36	40					5																	150901299		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901299C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10855G>A	5.37:g.150901299C>T	ENSP00000261800:p.Val3619Met					FAT2_uc003lud.4_Missense_Mutation_p.V312M	p.V3619M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	10868	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3619			Cadherin 32.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10855G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.765010|3.765010	0.69878|0.69878	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.60171	.|0.21	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Cadherin (3);Cadherin-like (1);	.|0.000000	.|0.56097	.|D	.|0.000035	T|T	0.69762|0.69762	0.3147|0.3147	M|M	0.86502|0.86502	2.82|2.82	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D	.|0.69078	.|0.994;0.997	.|P;P	.|0.51453	.|0.67;0.646	T|T	0.75249|0.75249	-0.3384|-0.3384	5|10	.|0.66056	.|D	.|0.02	.|.	10.6917|10.6917	0.45875|0.45875	0.0:0.8589:0.0:0.1411|0.0:0.8589:0.0:0.1411	.|.	.|3619;810	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	H|M	477|3619	.|ENSP00000261800:V3619M	.|ENSP00000261800:V3619M	R|V	-|-	2|1	0|0	FAT2|FAT2	150881492|150881492	0.954000|0.954000	0.32549|0.32549	0.982000|0.982000	0.44146|0.44146	0.639000|0.639000	0.38242|0.38242	2.144000|2.144000	0.42197|0.42197	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150901299	C	T	150901299	3	4	69	1	0	0	0	0	1	0	0	0	5690	536	19	1	2218	1	FAT2	5	150901299	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	2214175	150901299	30013961	31	4601											
MDN1	23195	broad.mit.edu	37	chr6	90387330	90387330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacgatggacaatgcGctctggagatctaatgggtg	9	10	14	8	2	2	2	0	1	2	1	2	5	2	3	0	3	2	2	0	3	2	1	rs116003199		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:90387330G>A	ENST00000369393.3	-	76	12613	c.12498C>T	c.(12496-12498)agC>agT	p.S4166S	MDN1_ENST00000428876.1_Silent_p.S4166S|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4166					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGACAATGCGCTCTGGAGAT	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		20697	0		0	False		,,,				2504	0					uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(12496-12498)agC>agT		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.		G		0,4406		0,0,2203	148	144	145		12498	-3	0.4	6	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MDN1	NM_014611.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		4166/5597	90387330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90387330G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12498C>T	6.37:g.90387330G>A							p.S4166S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	75	12614	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4166					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.12498C>T	CCDS5024.1																																																																																				0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90387330	G	A	90387330	2	1	69	1	0	0	0	0	0	0	0	1	9415	1078	38	1		1	MDN1	6	90387330	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		90387330	80727737	32	4602											
ASCC3	10973	broad.mit.edu	37	chr6	101248186	101248186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttattacctttgtatccGcaattccttaggatcaaagc	10	16	5	10	1	1	0	1	0	0	0	3	1	3	1	3	1	2	2	3	1	6	7	rs371905084		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:101248186G>A	ENST00000369162.2	-	6	1461	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ASCC3_ENST00000522650.1_Missense_Mutation_p.R373W	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	373					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.R373W(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTTGTATCCGCAATTCCTTA	0.348																																						uc003pqk.3																			1	Substitution - Missense(1)	p.R373W(2)	kidney(1)	breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(1117-1119)Cgg>Tgg		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	119	117	118		1117	-2.6	0.5	6		118	0,8600		0,0,4300	no	missense	ASCC3	NM_006828.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	373/2203	101248186	1,13005	2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101248186G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1117C>T	6.37:g.101248186G>A	ENSP00000358159:p.Arg373Trp					ASCC3_uc011eai.1_Missense_Mutation_p.R275W|ASCC3_uc003pql.3_Missense_Mutation_p.R373W	p.R373W	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	5	1446	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	373					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1117C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041379	0.55003	2.27E-4	0.0	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.61627	0.29;0.09	5.51	-2.59	0.06209	.	0.066271	0.64402	D	0.000020	T	0.64170	0.2574	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.958	T	0.73075	-0.4097	10	0.49607	T	0.09	.	18.3564	0.90358	0.0:0.0:0.3701:0.6299	.	373;373	E7EW23;Q8N3C0	.;HELC1_HUMAN	W	373	ENSP00000358159:R373W;ENSP00000430769:R373W	ENSP00000358159:R373W	R	-	1	2	ASCC3	101354907	0.988000	0.35896	0.515000	0.27774	0.665000	0.39181	0.223000	0.17719	-0.294000	0.08973	-0.310000	0.09108	CGG		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		A	101248186	G	A	101248186	3	1	69	1	0	0	0	0	1	0	0	0	1033	1086	38	1	5639	1	ASCC3	6	101248186	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	10860856	101248186	69866881	33	4603											
TMEM200A	114801	broad.mit.edu	37	chr6	130762663	130762663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcatctatggctctcGgacctggggctggacagctc	8	9	12	12	1	3	0	1	0	2	0	5	2	3	2	1	5	1	3	1	5	2	1	rs140251464		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:130762663G>A	ENST00000296978.3	+	3	1967	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	TMEM200A_ENST00000392429.1_Missense_Mutation_p.G366R|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G366R	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	366						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TATGGCTCTCGGACCTGGGGC	0.522													G|||	1	0.000199681	0	0	5008	,	,		19445	0		0	False		,,,				2504	0.001					uc003qcb.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1096-1098)Gga>Aga		Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.		G	ARG/GLY	1,4405		0,1,2202	76	77	77		1096	5	0.8	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	TMEM200A	NM_052913.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	366/492	130762663	1,13005	2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762663G>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1096G>A	6.37:g.130762663G>A	ENSP00000296978:p.Gly366Arg					TMEM200A_uc003qca.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366R|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366R	p.G366R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	1	3474	+			366					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1096G>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059107	0.19987	2.27E-4	0.0	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.84	4.97	0.65823	.	0.142252	0.45606	N	0.000343	T	0.37156	0.0993	L	0.32530	0.975	0.41890	D	0.99036	D	0.62365	0.991	P	0.50270	0.636	T	0.14200	-1.0481	9	0.25106	T	0.35	-9.1951	15.2363	0.73432	0.0675:0.0:0.9325:0.0	.	366	Q86VY9	T200A_HUMAN	R	366	.	ENSP00000296978:G366R	G	+	1	0	TMEM200A	130804356	1.000000	0.71417	0.751000	0.31187	0.068000	0.16541	5.485000	0.66850	1.481000	0.48307	-0.122000	0.15005	GGA		0.522	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		A	130762663	G	A	130762663	3	1	69	1	0	0	0	0	1	0	0	0	16120	1117	39	2	1098	2	TMEM200A	6	130762663	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	29514477	130762663	40352404	34	4604											
EGFR	1956	broad.mit.edu	37	chr7	55249010	55249011	+	In_Frame_Ins	INS	-	-	ACAACCCCC																															ctacgtgatggccagcgtggINSacaacccccacgtgtgccgc																										TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:55249010_55249011insACAACCCCC	ENST00000275493.2	+	20	2485_2486	c.2308_2309insACAACCCCC	c.(2308-2310)gac>gACAACCCCCac	p.773_774insNPH	EGFR_ENST00000455089.1_In_Frame_Ins_p.728_729insNPH|EGFR_ENST00000454757.2_In_Frame_Ins_p.720_721insNPH|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.V769_D770insASV(14)|p.D770>GY(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.V769_D770insMASVD(2)|p.D770_N771>AGG(1)|p.V769_D770insCV(1)|p.V769_D770insGSV(1)|p.D770_N771insDG(1)|p.V769_D770insDNV(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGCCAGCGTGGACAACCCCCAC	0.649		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		31	Insertion - In frame(23)|Complex - insertion inframe(5)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.H773_V774insNPH(15)|p.V769_D770insASV(14)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.D770>GY(3)|p.H773_V774insH(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.P772_H773insYNP(2)|p.P772_H773insX(2)|p.D770_P772>ASVDNR(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.H773L(2)|p.H773Y(2)|p.V769_D770insMASVD(2)|p.N771_P772>SVDNR(2)|p.H773_V774insGH(1)|p.V769_D770insCV(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.P772_H773insV(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770fs*61(1)|p.P772_H773insHV(1)|p.V769_D770insGSV(1)|p.V774L(1)|p.V769_D770insDNV(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.N771_P772insRH(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.D770_N771insDG(1)|p.P772H(1)|p.H773_V774>LM(1)|p.D770_N771>AGG(1)|p.P772P(1)|p.P772S(1)|p.P772R(1)	lung(31)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2308-2310)gac>gACAACCCCCac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001652	inframe_insertion	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249010_55249011insACAACCCCC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2309_2317dupACAACCCCC	7.37:g.55249011_55249019dupACAACCCCC	ENSP00000275493:p.Asn771_His773dup	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_In_Frame_Ins_p.773_774insNPH|EGFR_uc010kzg.2_In_Frame_Ins_p.728_729insNPH|EGFR_uc022adn.1_In_Frame_Ins_p.728_729insNPH|EGFR_uc011kco.2_In_Frame_Ins_p.720_721insNPH|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.8_9insNPH	p.773_774insNPH	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2554_2555	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		773			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Ins	INS	ENST00000275493.2	37	c.2308_2309insACAACCCCC	CCDS5514.1																																																																																				0.649	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		ACAACCCCC	55249011	-	ACAACCCCC	55249010	7	5	69	1	0	1	1	0	0	0	0	0	4967	1174	41	0	2650	0	EGFR	7	55249010	In_Frame_Ins	INS	-	TCGA-06-0879-01A-01W-0424-08		55249010	103889653	35	4605											
KEL	3792	broad.mit.edu	37	chr7	142649600	142649600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctcctctcctcaccatgGgtggttgctctgtcagttcc	3	13	9	16	1	4	0	2	0	2	0	7	0	6	0	5	2	1	4	5	2	0	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:142649600G>T	ENST00000355265.2	-	10	1673	c.1199C>A	c.(1198-1200)cCc>cAc	p.P400H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	400					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTCACCATGGGTGGTTGCTC	0.552																																						uc003wcb.3																			0		p.P399S(1)|p.P399Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1198-1200)cCc>cAc		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							136	117	123					7																	142649600		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142649600G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1199C>A	7.37:g.142649600G>T	ENSP00000347409:p.Pro400His						p.P400H	NM_000420	NP_000411	P23276	KELL_HUMAN			9	1409	-	Melanoma(164;0.059)		400					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1199C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847855	0.51164	.	.	ENSG00000197993	ENST00000355265	T	0.76316	-1.01	5.28	3.49	0.39957	Peptidase M13 (1);	0.421699	0.20516	N	0.090787	D	0.83050	0.5170	M	0.65975	2.015	0.18873	N	0.999984	D	0.69078	0.997	D	0.63113	0.911	T	0.73206	-0.4056	10	0.87932	D	0	0.0028	7.7676	0.28988	0.1849:0.0:0.8151:0.0	.	400	P23276	KELL_HUMAN	H	400	ENSP00000347409:P400H	ENSP00000347409:P400H	P	-	2	0	KEL	142359722	0.058000	0.20735	0.272000	0.24630	0.912000	0.54170	1.067000	0.30616	0.813000	0.34350	-0.140000	0.14226	CCC		0.552	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142649600	G	T	142649600	3	4	69	1	0	0	0	0	1	0	0	0	8142	1232	43	5	1039	5	KEL	7	142649600	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	87400590	142649600	16489063	36	4606											
ABP1	26	broad.mit.edu	37	chr7	150558187	150558187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagagacactgtgatcGtgtggcctcgggacaacggc	9	7	13	12	3	0	2	0	1	0	1	3	4	1	3	2	3	1	0	2	3	1	0	rs199683372		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:150558187G>A	ENST00000493429.1	+	7	2730	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	AOC1_ENST00000467291.1_Missense_Mutation_p.V716M|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.V735M|AOC1_ENST00000360937.4_Missense_Mutation_p.V716M			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	716					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CACTGTGATCGTGTGGCCTCG	0.602																																						uc003why.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2146-2148)Gtg>Atg		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)	G	MET/VAL	1,4093		0,1,2046	62	71	68		2146	4	1	7		68	2,8380		0,2,4189	yes	missense	ABP1	NM_001091.2	21	0,3,6235	AA,AG,GG		0.0239,0.0244,0.024	probably-damaging	716/752	150558187	3,12473	2047	4191	6238	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150558187G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2146G>A	7.37:g.150558187G>A	ENSP00000418614:p.Val716Met					ABP1_uc003whz.1_Missense_Mutation_p.V716M|ABP1_uc003wia.1_Missense_Mutation_p.V735M	p.V716M	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	6364	+	all_neural(206;0.219)		716					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2146G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797451	0.70567	2.44E-4	2.39E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	4.84	3.96	0.45880	Copper amine oxidase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.07999	0.0200	N	0.08118	0	0.46499	D	0.999075	D;D	0.89917	1.0;1.0	D;D	0.83275	0.97;0.996	T	0.43032	-0.9416	10	0.62326	D	0.03	-8.12	10.8758	0.46911	0.093:0.0:0.907:0.0	.	735;716	C9J690;P19801	.;ABP1_HUMAN	M	716;716;716;735;592	ENSP00000418614:V716M;ENSP00000418328:V716M;ENSP00000354193:V716M;ENSP00000411613:V735M	ENSP00000354193:V716M	V	+	1	0	ABP1	150189120	1.000000	0.71417	0.979000	0.43373	0.895000	0.52256	5.017000	0.64047	1.038000	0.40049	0.305000	0.20034	GTG		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		A	150558187	G	A	150558187	3	1	69	1	0	0	0	0	1	0	0	0	98	1145	40	1	2160	1	ABP1	7	150558187	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	7908587	150558187	8580476	37	4607											
DOCK5	80005	broad.mit.edu	37	chr8	25225732	25225732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacatgagaaaggaaatCggctttagaatccgggacat	14	7	14	6	2	0	2	0	1	0	2	2	6	1	5	1	5	0	1	1	5	4	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr8:25225732C>T	ENST00000276440.7	+	32	3293	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1083					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3247-3249)atC>atT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							97	84	88					8																	25225732		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25225732C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3249C>T	8.37:g.25225732C>T						DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	p.I1083I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	31	3386	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1083					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.3249C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251147	0.22880	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.75	0.769	0.18492	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53056	-0.8492	4	.	.	.	.	10.8677	0.46864	0.0:0.5468:0.0:0.4532	.	.	.	.	W	855	.	.	R	+	1	2	DOCK5	25281649	0.206000	0.23470	0.998000	0.56505	0.920000	0.55202	-0.427000	0.06999	0.075000	0.16796	-0.140000	0.14226	CGG		0.413	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25225732	C	T	25225732	2	4	69	1	0	0	0	0	0	0	0	1	4690	874	31	2		2	DOCK5	8	25225732	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		25225732	121138290	38	4608											
CALML5	51806	broad.mit.edu	37	chr10	5541186	5541186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctggccttcttcgcCgccgtcaggaactcctggaa	5	8	11	17	4	2	0	1	0	1	0	4	2	3	2	6	4	1	0	6	4	2	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr10:5541186C>T	ENST00000380332.3	-	1	347	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCTTCTTCGCCGCCGTCAGGA	0.662																																					GBM(149;1055 3356 43077)	uc001iic.2																			0				biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						c.(214-216)gcG>gcA		Homo sapiens calmodulin-like 5 (CALML5), mRNA.							44	47	46					10																	5541186		2203	4300	6503	SO:0001819	synonymous_variant	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5541186C>T	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"EF-hand domain containing"	18180	protein-coding gene	gene with protein product	"calmodulin-like skin protein"	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.216G>A	10.37:g.5541186C>T							p.A72A	NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN			0	348	-			72			EF-hand 2.		Q5SQI3|Q8IXU8	Silent	SNP	ENST00000380332.3	37	c.216G>A	CCDS7068.1																																																																																				0.662	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422		T	5541186	C	T	5541186	2	4	69	1	0	0	0	0	0	0	0	1	2589	639	23	2		2	CALML5	10	5541186	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		5541186	129993561	39	4609											
SORCS3	22986	broad.mit.edu	37	chr10	106899184	106899184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggaagagccagctactaCgtgtcttatcgaagagaggc	12	8	13	8	2	1	2	0	0	1	2	2	5	1	3	1	2	4	1	1	2	5	3	rs531557060	byFrequency	TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr10:106899184C>T	ENST00000369701.3	+	8	1469	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	414					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAGCTACTACGTGTCTTATC	0.488													C|||	2	0.000399361	0	0	5008	,	,		20845	0		0	False		,,,				2504	0.002				NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1240-1242)taC>taT		Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.							189	172	178					10																	106899184		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106899184C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1242C>T	10.37:g.106899184C>T							p.Y414Y	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	7	1469	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	414					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1242C>T	CCDS7558.1																																																																																				0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106899184	C	T	106899184	2	4	69	1	0	0	0	0	0	0	0	1	14932	547	19	1		1	SORCS3	10	106899184	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	101357998	106899184	28635563	40	4610											
SPRYD5	84767	broad.mit.edu	37	chr11	55653041	55653041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctcaactggcaagacaCggcagttcttgctcagtgct	9	10	10	12	1	3	1	2	0	1	1	3	1	3	1	1	2	4	6	1	2	3	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:55653041C>T	ENST00000449290.2	+	2	229	c.137C>T	c.(136-138)aCg>aTg	p.T46M	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	46						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T46M(1)									TGGCAAGACACGGCAGTTCTT	0.493																																						uc010rip.2																			1	Substitution - Missense(1)	p.T46M(1)	endometrium(1)								c.(136-138)aCg>aTg		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							40	34	36					11																	55653041		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653041C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.137C>T	11.37:g.55653041C>T	ENSP00000395086:p.Thr46Met					TRIM51_uc010riq.2_5'Flank	p.T46M	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			1	229	+			46					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.137C>T		.	.	.	.	.	.	.	.	.	.	.	1.844	-0.466738	0.04476	.	.	ENSG00000124900	ENST00000449290	T	0.08193	3.12	0.803	-0.941	0.10402	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.08223	0.0205	L	0.60067	1.865	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.36212	-0.9757	9	0.32370	T	0.25	.	5.2197	0.15362	0.0:0.4188:0.0:0.5812	.	46	Q9BSJ1	SPRY5_HUMAN	M	46	ENSP00000395086:T46M	ENSP00000395086:T46M	T	+	2	0	SPRYD5	55409617	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.055000	0.11807	-1.170000	0.02769	-1.353000	0.01230	ACG		0.493	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55653041	C	T	55653041	3	4	69	1	0	0	0	0	1	0	0	0	15110	536	19	1	139	1	SPRYD5	11	55653041	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		55653041	79353475	41	4611											
MEN1	4221	broad.mit.edu	37	chr11	64575418	64575418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggtcctcgttgcccttgCcgtgccaggtgacctcagct	3	11	12	15	3	1	1	1	1	0	0	3	1	2	1	5	2	5	2	5	2	0	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:64575418C>T	ENST00000337652.1	-	3	1117	c.614G>A	c.(613-615)gGc>gAc	p.G205D	MEN1_ENST00000315422.4_Missense_Mutation_p.G200D|MEN1_ENST00000377326.3_Missense_Mutation_p.G200D|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000394374.2_Missense_Mutation_p.G205D|MEN1_ENST00000443283.1_Missense_Mutation_p.G205D|MEN1_ENST00000312049.6_Missense_Mutation_p.G200D|MEN1_ENST00000377313.1_Missense_Mutation_p.G205D|MEN1_ENST00000377316.2_Missense_Mutation_p.G200D|MEN1_ENST00000394376.1_Missense_Mutation_p.G205D|MEN1_ENST00000478548.1_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	205					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTTGCCCTTGCCGTGCCAGGT	0.627			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.3			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(613-615)gGc>gAc		Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.							84	66	72					11																	64575418		2201	4297	6498	SO:0001583	missense	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575418C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.614G>A	11.37:g.64575418C>T	ENSP00000337088:p.Gly205Asp					MEN1_uc001obk.3_Missense_Mutation_p.G205D|MEN1_uc001obl.3_Intron|MEN1_uc001obm.3_Missense_Mutation_p.G200D|MEN1_uc001obn.3_Missense_Mutation_p.G205D|MEN1_uc001obo.3_Missense_Mutation_p.G205D|MEN1_uc001obq.3_Missense_Mutation_p.G205D|MEN1_uc001obr.3_Missense_Mutation_p.G205D	p.G205D	NM_130800	NP_570716	O00255	MEN1_HUMAN			2	687	-			205					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.614G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907473	0.92107	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	4.76	4.76	0.60689	.	0.061993	0.64402	D	0.000004	D	0.99654	0.9872	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97398	0.9994	10	0.87932	D	0	-21.0729	15.7236	0.77736	0.0:1.0:0.0:0.0	.	200;205	O00255-2;O00255	.;MEN1_HUMAN	D	200;200;200;200;205;205;205;205;205;200;200;200	ENSP00000366533:G200D;ENSP00000366543:G200D;ENSP00000308975:G200D;ENSP00000323747:G200D;ENSP00000337088:G205D;ENSP00000377901:G205D;ENSP00000377899:G205D;ENSP00000396940:G205D;ENSP00000366530:G205D;ENSP00000413944:G200D;ENSP00000394933:G200D;ENSP00000411218:G200D	ENSP00000308975:G200D	G	-	2	0	MEN1	64331994	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.890000	0.75633	2.382000	0.81193	0.456000	0.33151	GGC		0.627	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			T	64575418	C	T	64575418	3	4	69	1	0	0	0	0	1	0	0	0	9472	739	26	3	1265	3	MEN1	11	64575418	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	8922377	64575418	70431098	42	4612											
CCDC81	60494	broad.mit.edu	37	chr11	86123501	86123501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaggaatattcccggAgtctcctgaaacaaatggat	15	8	10	8	1	1	2	0	1	1	1	3	5	2	5	2	3	2	1	2	3	5	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:86123501A>G	ENST00000445632.2	+	11	1563	c.1291A>G	c.(1291-1293)Agt>Ggt	p.S431G	CCDC81_ENST00000278487.3_Missense_Mutation_p.S166G|CCDC81_ENST00000528728.1_Missense_Mutation_p.S166G|CCDC81_ENST00000354755.1_Missense_Mutation_p.S341G	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	431										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATATTCCCGGAGTCTCCTGAA	0.418																																						uc001pbx.2																			0		p.E430*(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1291-1293)Agt>Ggt		Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.							121	117	118					11																	86123501		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86123501A>G	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1291A>G	11.37:g.86123501A>G	ENSP00000415528:p.Ser431Gly					CCDC81_uc001pbw.2_Missense_Mutation_p.S341G|CCDC81_uc010rtq.2_Missense_Mutation_p.S214G|CCDC81_uc001pby.2_Missense_Mutation_p.S166G	p.S431G	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			10	1719	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	431					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1291A>G	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457202	0.26161	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.51	0.361	0.16107	.	0.533801	0.20619	N	0.088802	T	0.23370	0.0565	L	0.37561	1.115	0.28286	N	0.923777	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.08806	-1.0704	9	.	.	.	-5.5595	0.8815	0.01235	0.3301:0.1661:0.3234:0.1804	.	166;431;341	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	G	341;166;431;166	ENSP00000346800:S341G;ENSP00000278487:S166G;ENSP00000415528:S431G;ENSP00000437165:S166G	.	S	+	1	0	CCDC81	85801149	0.967000	0.33354	0.974000	0.42286	0.936000	0.57629	0.472000	0.22116	0.054000	0.16065	-0.274000	0.10170	AGT		0.418	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		G	86123501	A	G	86123501	3	3	69	1	0	0	0	0	1	0	0	0	2855	304	11	4	1333	4	CCDC81	11	86123501	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	21548083	86123501	48883015	43	4613											
GLI1	2735	broad.mit.edu	37	chr12	57863263	57863263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctgcagcagtgaccactCcccggcagggagtgcagcca	9	5	12	15	1	0	1	0	1	0	0	2	2	2	2	5	2	4	4	5	2	0	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:57863263C>T	ENST00000228682.2	+	11	1449	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	GLI1_ENST00000546141.1_Missense_Mutation_p.S412F|GLI1_ENST00000543426.1_Missense_Mutation_p.S325F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	453					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTGACCACTCCCCGGCAGGG	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.3																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1357-1359)tCc>tTc		Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.							73	62	66					12																	57863263		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57863263C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1358C>T	12.37:g.57863263C>T	ENSP00000228682:p.Ser453Phe					GLI1_uc021qzi.1_Missense_Mutation_p.S412F|GLI1_uc009zpq.3_Missense_Mutation_p.S325F	p.S453F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1452	+			453					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1358C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354282	0.82243	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.17854	2.37;2.25;2.33;2.33	4.49	4.49	0.54785	.	0.000000	0.50627	D	0.000110	T	0.41026	0.1141	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.33033	-0.9884	10	0.87932	D	0	.	15.0811	0.72117	0.0:1.0:0.0:0.0	.	453	P08151	GLI1_HUMAN	F	325;453;412;412	ENSP00000437607:S325F;ENSP00000228682:S453F;ENSP00000441006:S412F;ENSP00000434408:S412F	ENSP00000228682:S453F	S	+	2	0	GLI1	56149530	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.562000	0.82300	2.484000	0.83849	0.563000	0.77884	TCC		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		T	57863263	C	T	57863263	3	4	69	1	0	0	0	0	1	0	0	0	6437	855	30	3	1396	3	GLI1	12	57863263	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		57863263	75988632	44	4614											
CAND1	55832	broad.mit.edu	37	chr12	67691247	67691247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtctacttccccagttGaccagccctagacttgcagt	8	11	7	15	0	1	2	0	1	1	1	2	2	2	2	5	0	3	2	5	0	2	5			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:67691247G>T	ENST00000545606.1	+	5	989	c.552G>T	c.(550-552)ttG>ttT	p.L184F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	184					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCCCCAGTTGACCAGCCCTA	0.368																																						uc001stn.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(550-552)ttG>ttT		Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.							137	139	138					12																	67691247		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67691247G>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.552G>T	12.37:g.67691247G>T	ENSP00000442318:p.Leu184Phe					CAND1_uc001sto.2_5'Flank	p.L184F	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	4	989	+			184					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.552G>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999175	0.74818	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.74632	-0.86	5.61	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89657	0.3874	9	.	.	.	-5.6672	10.1796	0.42959	0.1474:0.0:0.8526:0.0	.	184	Q86VP6	CAND1_HUMAN	F	184;184;26	ENSP00000442318:L184F	.	L	+	3	2	CAND1	65977514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.464000	0.60134	2.657000	0.90304	0.655000	0.94253	TTG		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		T	67691247	G	T	67691247	3	4	69	1	0	0	0	0	1	0	0	0	2615	1281	45	5	570	5	CAND1	12	67691247	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	9827984	67691247	66160648	45	4615											
MGAT4C	25834	broad.mit.edu	37	chr12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggaccatggcatcacGccaggaagaattaaagtctg	13	8	10	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	4	1	rs566418071		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:86374059G>A	ENST00000604798.1	-	8	1649	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													G|||	1	0.000199681	8e-04	0	5008	,	,		16782	0		0	False		,,,				2504	0					uc010sum.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(517-519)Cgt>Tgt		Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.							81	80	80					12																	86374059		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374059G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.445C>T	12.37:g.86374059G>A	ENSP00000474896:p.Arg149Cys					MGAT4C_uc001tal.4_Missense_Mutation_p.R149C|MGAT4C_uc001taj.4_Missense_Mutation_p.R149C|MGAT4C_uc001tak.4_Missense_Mutation_p.R149C|MGAT4C_uc001tai.4_Missense_Mutation_p.R149C|MGAT4C_uc001tah.4_Missense_Mutation_p.R149C	p.R173C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			5	676	-			149					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.517C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940816	0.18281	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	4.59	0.56863	.	0.169518	0.52532	D	0.000061	T	0.62208	0.2409	N	0.02916	-0.46	0.58432	D	0.999999	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	T	0.59225	-0.7494	10	0.34782	T	0.22	-17.5819	3.6286	0.08123	0.3462:0.0:0.6538:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	149;178;149;149;149;149;149	ENSP00000331664:R149C;ENSP00000376900:R178C;ENSP00000449022:R149C;ENSP00000446647:R149C;ENSP00000447253:R149C;ENSP00000449172:R149C	ENSP00000331664:R149C	R	-	1	0	MGAT4C	84898190	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.687000	0.84139	2.612000	0.88384	0.655000	0.94253	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		A	86374059	G	A	86374059	3	1	69	1	0	0	0	0	1	0	0	0	9547	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	18682812	86374059	47477836	46	4616											
C12orf63	144535	broad.mit.edu	37	chr12	97087577	97087577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaatctagaagcaagAatcctcaaggtatgttacaa	19	8	7	7	0	2	3	1	0	1	3	3	3	3	3	1	1	2	3	1	1	10	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:97087577A>G	ENST00000524981.4	+	45	6365	c.6342A>G	c.(6340-6342)agA>agG	p.R2114R				Q96N23	CL055_HUMAN		0																	TAGAAGCAAGAATCCTCAAGG	0.308																																						uc021rcc.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1615-1617)agA>agG		RecName: Full=Putative uncharacterized protein C12orf63;							100	100	100					12																	97087577		2202	4296	6498	SO:0001819	synonymous_variant	374467							g.chr12:97087577A>G																												ENST00000524981.4:c.6342A>G	12.37:g.97087577A>G							p.R539R			Q6ZTY8	CL063_HUMAN			11	1695	+			539						Silent	SNP	ENST00000524981.4	37	c.1617A>G																																																																																					0.308	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			G	97087577	A	G	97087577	2	3	69	1	0	0	0	0	0	0	0	1	1706	243	9	4		4	C12orf63	12	97087577	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	10713518	97087577	36764318	47	4617											
RIMBP2	23504	broad.mit.edu	37	chr12	130926697	130926697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtccttgcccaccagcagCgtgcactgcagctcatccga	8	7	9	17	3	1	0	1	0	0	0	3	1	3	0	4	0	6	4	4	0	0	1	rs149109982	byFrequency	TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:130926697C>T	ENST00000261655.4	-	8	1312	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	RIMBP2_ENST00000535703.1_Silent_p.T291T|RIMBP2_ENST00000536002.1_Silent_p.T291T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	383	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCAGCAGCGTGCACTGCA	0.637													C|||	2	0.000399361	0	0.0014	5008	,	,		19882	0.001		0	False		,,,				2504	0					uc001uil.2																			0		p.T383M(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1147-1149)acG>acA		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.				2,4404	4.2+/-10.8	0,2,2201	108	96	100		1149	-3.9	1	12	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	RIMBP2	NM_015347.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		383/1053	130926697	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130926697C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1149G>A	12.37:g.130926697C>T						RIMBP2_uc001uim.3_Silent_p.T291T	p.T383T	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	7	1365	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	383					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1149G>A	CCDS31925.1																																																																																				0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130926697	C	T	130926697	2	4	69	1	0	0	0	0	0	0	0	1	13363	755	27	1		1	RIMBP2	12	130926697	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	33839120	130926697	2925198	48	4618											
MTUS2	23281	broad.mit.edu	37	chr13	29600822	29600822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggtggacgcctcgctgGttccagtggggcttccatat	5	10	14	12	2	0	0	0	0	0	0	3	1	2	1	4	5	0	3	4	5	1	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:29600822G>T	ENST00000431530.3	+	1	2075	c.2017G>T	c.(2017-2019)Gtt>Ttt	p.V673F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	663	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGCCTCGCTGGTTCCAGTGGG	0.587																																						uc001usl.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2017-2019)Gtt>Ttt		Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.							40	45	44					13																	29600822		1972	4133	6105	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600822G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2017G>T	13.37:g.29600822G>T	ENSP00000392057:p.Val673Phe						p.V673F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			0	2075	+			663			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2017G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	7.973	0.749406	0.15778	.	.	ENSG00000132938	ENST00000431530	T	0.18657	2.2	5.65	3.0	0.34707	.	0.237728	0.29260	N	0.012672	T	0.26557	0.0649	L	0.51422	1.61	0.43841	D	0.996424	B	0.33477	0.413	B	0.43251	0.413	T	0.01570	-1.1322	9	.	.	.	.	12.8045	0.57605	0.0635:0.2216:0.7149:0.0	.	663	Q5JR59	MTUS2_HUMAN	F	673	ENSP00000392057:V673F	.	V	+	1	0	MTUS2	28498822	1.000000	0.71417	0.649000	0.29536	0.012000	0.07955	2.008000	0.40893	0.179000	0.19938	-0.795000	0.03280	GTT		0.587	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29600822	G	T	29600822	3	4	69	1	0	0	0	0	1	0	0	0	9966	1261	44	5	2019	5	MTUS2	13	29600822	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		29600822	85569056	49	4619											
BRCA2	675	broad.mit.edu	37	chr13	32911000	32911000	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttgagctgttgccaccTgaaaaatacatgagagtagc	14	9	10	8	1	0	3	0	3	0	1	0	4	0	3	2	0	5	4	2	0	5	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:32911000T>C	ENST00000380152.3	+	11	2741	c.2508T>C	c.(2506-2508)ccT>ccC	p.P836P	BRCA2_ENST00000544455.1_Silent_p.P836P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	836	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGCCACCTGAAAAATACA	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2506-2508)ccT>ccC	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							57	59	58					13																	32911000		2202	4299	6501	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911000T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2508T>C	13.37:g.32911000T>C		TCGA Ovarian(8;0.087)					p.P836P	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2735	+		Lung SC(185;0.0262)	836			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.2508T>C	CCDS9344.1																																																																																				0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		C	32911000	T	C	32911000	2	2	69	1	0	0	0	0	0	0	0	1	1499	1567	55	4		4	BRCA2	13	32911000	Silent	SNP	T	TCGA-06-0879-01A-01W-0424-08	3310178	32911000	82258878	50	4620											
ARL11	115761	broad.mit.edu	37	chr13	50204952	50204952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggtgctggccaacaaGcaggaggcacctgatgcact	9	9	12	11	0	1	1	0	1	1	0	1	2	1	2	2	4	4	4	2	4	2	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:50204952G>A	ENST00000282026.1	+	2	704	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	123					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TGGCCAACAAGCAGGAGGCAC	0.602																																						uc001vdf.2																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.(367-369)aaG>aaA		Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.							67	67	67					13																	50204952		2203	4300	6503	SO:0001819	synonymous_variant	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204952G>A	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.369G>A	13.37:g.50204952G>A						ARL11_uc021rjo.1_Silent_p.K123K	p.K123K	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	1	704	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	123						Silent	SNP	ENST00000282026.1	37	c.369G>A	CCDS9419.1																																																																																				0.602	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		A	50204952	G	A	50204952	2	1	69	1	0	0	0	0	0	0	0	1	927	962	34	3		3	ARL11	13	50204952	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	17293952	50204952	64964926	51	4621											
PROZ	8858	broad.mit.edu	37	chr13	113812987	113812987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggaatggcaggctgcGtcccactgctccagggcctg	5	7	17	12	1	0	0	0	0	0	0	2	1	2	1	3	5	2	3	3	5	1	0	rs200554473	byFrequency	TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:113812987G>A	ENST00000375547.2	+	1	20	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	PROZ_ENST00000342783.4_Missense_Mutation_p.V5I	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	5					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGCAGGCTGCGTCCCACTGCT	0.657													G|||	5	0.000998403	0	0	5008	,	,		13757	0.004		0	False		,,,				2504	0.001					uc001vta.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(13-15)Gtc>Atc		Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	Menadione(DB00170)						97	61	73					13																	113812987		2202	4298	6500	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113812987G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.13G>A	13.37:g.113812987G>A	ENSP00000364697:p.Val5Ile					PROZ_uc010agr.1_Missense_Mutation_p.V5I	p.V5I	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		0	20	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	5					A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.13G>A	CCDS9531.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.007	-1.995344	0.00435	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.96104	-3.57;-3.91	2.47	-4.95	0.03048	.	1.598140	0.04653	N	0.407509	D	0.85847	0.5792	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.76085	-0.3088	10	0.87932	D	0	.	4.5695	0.12203	0.3024:0.0:0.5015:0.1961	.	5;5	P22891-2;P22891	.;PROZ_HUMAN	I	5	ENSP00000364697:V5I;ENSP00000344458:V5I	ENSP00000344458:V5I	V	+	1	0	PROZ	112860988	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.519000	0.00952	-2.101000	0.00846	-1.786000	0.00637	GTC		0.657	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		A	113812987	G	A	113812987	3	1	69	1	0	0	0	0	1	0	0	0	12562	1145	40	1	15	1	PROZ	13	113812987	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	63608035	113812987	1356891	52	4622											
PPP4R4	57718	broad.mit.edu	37	chr14	94703972	94703972	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatgaaggcagcagtgtaCgacttgcagcttttgaaact	11	10	13	7	1	0	2	0	2	0	0	0	4	0	3	0	2	5	5	0	2	3	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr14:94703972C>T	ENST00000304338.3	+	8	956	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	268					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAGCAGTGTACGACTTGCAGC	0.358																																						uc001ycs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(802-804)Cga>Tga		Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.							160	150	154					14																	94703972		2203	4300	6503	SO:0001587	stop_gained	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94703972C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.802C>T	14.37:g.94703972C>T	ENSP00000305924:p.Arg268*						p.R268*	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			7	956	+			268					Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	ENST00000304338.3	37	c.802C>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	38	6.826482	0.97869	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.57	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6348	14.5325	0.67936	0.0:0.9292:0.0:0.0708	.	.	.	.	X	268	.	ENSP00000305924:R268X	R	+	1	2	PPP4R4	93773725	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	3.746000	0.55127	1.340000	0.45581	0.585000	0.79938	CGA		0.358	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		T	94703972	C	T	94703972	4	4	69	1	0	0	0	0	0	1	0	0	12405	528	19	1	905	1	PPP4R4	14	94703972	Nonsense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		94703972	12645568	53	4623											
AQR	9716	broad.mit.edu	37	chr15	35166951	35166951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagcgagtgaagagagActgctccatgtttgagtact	14	9	11	7	1	0	4	0	2	0	2	1	6	1	4	1	0	4	3	1	0	4	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr15:35166951A>G	ENST00000156471.5	-	29	3577	c.3352T>C	c.(3352-3354)Tct>Cct	p.S1118P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1118					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGAAGAGAGACTGCTCCATG	0.428																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3352-3354)Tct>Cct		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							138	132	134					15																	35166951		1916	4136	6052	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35166951A>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3352T>C	15.37:g.35166951A>G	ENSP00000156471:p.Ser1118Pro						p.S1118P	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	28	3533	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1118					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3352T>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663021	0.88251	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.96459	-4.02	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.94423	3.535	0.58432	D	0.999999	P	0.47409	0.895	P	0.52881	0.712	D	0.99063	1.0831	10	0.72032	D	0.01	-21.112	15.6723	0.77289	1.0:0.0:0.0:0.0	.	1118	O60306	AQR_HUMAN	P	1118	ENSP00000156471:S1118P	ENSP00000156471:S1118P	S	-	1	0	AQR	32954243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.262000	0.95591	2.105000	0.64084	0.528000	0.53228	TCT		0.428	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35166951	A	G	35166951	3	3	69	1	0	0	0	0	1	0	0	0	835	275	10	4	1133	4	AQR	15	35166951	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08		35166951	67364441	54	4624											
KIAA1024	23251	broad.mit.edu	37	chr15	79750063	79750063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgacattttccgatttcTtgatgacatgagcatcagtg	10	14	9	8	1	2	4	1	4	1	0	3	5	3	4	1	0	1	1	1	0	0	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr15:79750063T>C	ENST00000305428.3	+	2	1649	c.1574T>C	c.(1573-1575)cTt>cCt	p.L525P		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	525						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTCCGATTTCTTGATGACATG	0.502																																						uc002bew.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1573-1575)cTt>cCt		Homo sapiens KIAA1024 (KIAA1024), mRNA.							101	81	88					15																	79750063		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750063T>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1574T>C	15.37:g.79750063T>C	ENSP00000307461:p.Leu525Pro					KIAA1024_uc010unk.1_Missense_Mutation_p.L525P	p.L525P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			1	1649	+			525					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1574T>C	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606503	0.66445	.	.	ENSG00000169330	ENST00000305428	T	0.57752	0.38	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72551	-0.4259	9	.	.	.	.	15.1171	0.72410	0.0:0.0:0.0:1.0	.	525	Q9UPX6	K1024_HUMAN	P	525	ENSP00000307461:L525P	.	L	+	2	0	KIAA1024	77537118	1.000000	0.71417	0.058000	0.19502	0.967000	0.64934	7.629000	0.83207	1.973000	0.57446	0.402000	0.26972	CTT		0.502	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		C	79750063	T	C	79750063	3	2	69	1	0	0	0	0	1	0	0	0	8205	1609	56	4	1576	4	KIAA1024	15	79750063	Missense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	44583112	79750063	22781329	55	4625											
SLC7A5	8140	broad.mit.edu	37	chr16	87873313	87873313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggtagcggctcaccacggCcacggcctcggacgacagca	8	3	14	16	6	1	0	1	0	0	0	2	2	1	1	3	5	2	3	3	5	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr16:87873313C>A	ENST00000261622.4	-	5	999	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	SLC7A5_ENST00000565644.1_Missense_Mutation_p.A46S|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	312					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CTCACCACGGCCACGGCCTCG	0.652																																						uc002fkm.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(934-936)Gcc>Tcc		Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.							87	70	75					16																	87873313		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87873313C>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.934G>T	16.37:g.87873313C>A	ENSP00000261622:p.Ala312Ser						p.A312S	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	4	1006	-			312					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.934G>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190326	0.94923	.	.	ENSG00000103257	ENST00000261622	D	0.90504	-2.68	5.41	5.41	0.78517	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97000	0.9728	10	0.87932	D	0	.	18.5445	0.91042	0.0:1.0:0.0:0.0	.	312	Q01650	LAT1_HUMAN	S	312	ENSP00000261622:A312S	ENSP00000261622:A312S	A	-	1	0	SLC7A5	86430814	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.197000	0.77814	2.711000	0.92665	0.563000	0.77884	GCC		0.652	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		A	87873313	C	A	87873313	3	1	69	1	0	0	0	0	1	0	0	0	14700	739	26	5	613	5	SLC7A5	16	87873313	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		87873313	2481440	56	4626											
PLSCR3	100529211	broad.mit.edu	37	chr17	7296587	7296587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcgccacagcacagaCgggcgcagcagttgctctcc	7	4	15	15	4	1	1	0	0	1	1	2	1	1	1	2	3	3	5	2	3	0	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:7296587C>T	ENST00000576362.1	-	4	540	c.383G>A	c.(382-384)cGt>cAt	p.R128H	TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.R128H|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.R128H|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.R128H|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.R128H					TMEM256-PLSCR3 readthrough (NMD candidate)																		ACAGCACAGACGGGCGCAGCA	0.716																																						uc002ggn.2																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(382-384)cGt>cAt		Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.							9	12	11					17																	7296587		1898	4051	5949	SO:0001583	missense	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7296587C>T			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.383G>A	17.37:g.7296587C>T	ENSP00000460800:p.Arg128His					PLSCR3_uc002ggo.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggm.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggp.2_Intron|PLSCR3_uc002ggq.2_Intron|PLSCR3_uc010cmg.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggr.2_Missense_Mutation_p.R128H	p.R128H	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN			4	907	-		Prostate(122;0.173)	128						Missense_Mutation	SNP	ENST00000576362.1	37	c.383G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.562689|5.562689	0.96527|0.96527	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.56444|.	0.46;0.46|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77718|0.77718	0.4172|0.4172	M|M	0.83852|0.83852	2.665|2.665	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.993;0.999|.	T|T	0.75750|0.75750	-0.3208|-0.3208	10|6	0.87932|0.30854	D|T	0|0.27	-21.0931|-21.0931	17.189|17.189	0.86874|0.86874	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	128;183|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	H|I	128|128	ENSP00000438547:R128H;ENSP00000316021:R128H|.	ENSP00000316021:R128H|ENSP00000370033:V128I	R|V	-|-	2|1	0|0	PLSCR3|PLSCR3	7237311|7237311	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.986000|0.986000	0.74619|0.74619	6.982000|6.982000	0.76173|0.76173	2.675000|2.675000	0.91044|0.91044	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.716	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			T	7296587	C	T	7296587	3	4	69	1	0	0	0	0	1	0	0	0	12111	536	19	1	520	1	PLSCR3	17	7296587	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		7296587	73898623	57	4627											
KRT15	3866	broad.mit.edu	37	chr17	39673161	39673161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatccaggactcggcGcaagccgttgatgtcagcct	8	8	11	14	3	2	1	2	1	0	0	4	2	3	2	3	2	3	3	3	2	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:39673161G>A	ENST00000254043.3	-	3	4222	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KRT15_ENST00000393981.3_Missense_Mutation_p.R48C|KRT15_ENST00000393976.2_Missense_Mutation_p.R213C|KRT15_ENST00000393974.3_Missense_Mutation_p.R48C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	213	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGACTCGGCGCAAGCCGTTG	0.592																																						uc002hwy.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(637-639)Cgc>Tgc		Homo sapiens keratin 15 (KRT15), mRNA.							65	64	65					17																	39673161		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673161G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.637C>T	17.37:g.39673161G>A	ENSP00000254043:p.Arg213Cys					KRT15_uc002hwz.3_Missense_Mutation_p.R115C|KRT15_uc002hxa.3_Missense_Mutation_p.R48C|KRT15_uc002hxb.1_Missense_Mutation_p.R48C	p.R213C	NM_002275	NP_002266	P19012	K1C15_HUMAN			2	828	-		Breast(137;0.000286)	213			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.637C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122190	0.37436	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	4.87	4.87	0.63330	Filament (1);	0.000000	0.49916	D	0.000122	D	0.95478	0.8531	M	0.75777	2.31	0.54753	D	0.999985	D;P;P	0.89917	1.0;0.865;0.94	D;P;P	0.79108	0.992;0.479;0.479	D	0.95758	0.8798	10	0.87932	D	0	.	14.7065	0.69194	0.0:0.0:0.8549:0.1451	.	48;213;213	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	C	213;48;213;48;48	ENSP00000254043:R213C;ENSP00000377544:R48C;ENSP00000377546:R213C;ENSP00000377550:R48C;ENSP00000409282:R48C	ENSP00000254043:R213C	R	-	1	0	KRT15	36926687	0.996000	0.38824	1.000000	0.80357	0.171000	0.22731	4.705000	0.61838	2.518000	0.84900	0.655000	0.94253	CGC		0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		A	39673161	G	A	39673161	3	1	69	1	0	0	0	0	1	0	0	0	8452	1087	38	1	757	1	KRT15	17	39673161	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	32376574	39673161	41522049	58	4628											
PITPNC1	26207	broad.mit.edu	37	chr17	65528973	65528973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccatgaacagagtgaccGgggagaaggggtggaggtcg	11	4	19	7	2	0	4	0	2	0	2	1	6	0	5	2	6	2	0	2	6	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:65528973G>A	ENST00000581322.1	+	2	104	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PITPNC1_ENST00000335257.6_Missense_Mutation_p.R35Q|PITPNC1_ENST00000299954.9_Missense_Mutation_p.R35Q|PITPNC1_ENST00000580974.1_Missense_Mutation_p.R35Q			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	35					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAGAGTGACCGGGGAGAAGGG	0.532																																						uc002jgc.3																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(103-105)cGg>cAg		Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.							51	55	54					17																	65528973		2020	4175	6195	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65528973G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.104G>A	17.37:g.65528973G>A	ENSP00000464006:p.Arg35Gln					PITPNC1_uc002jgb.3_Missense_Mutation_p.R35Q	p.R35Q	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		1	451	+	all_cancers(12;3.03e-10)		35					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.104G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180406	0.57800	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.41400	1.0;1.0	5.75	5.75	0.90469	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	L	0.46157	1.445	0.58432	D	0.999997	P;P	0.50443	0.935;0.883	P;B	0.46796	0.527;0.206	T	0.35798	-0.9774	10	0.44086	T	0.13	-15.0561	19.942	0.97168	0.0:0.0:1.0:0.0	.	35;35	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	Q	35	ENSP00000335618:R35Q;ENSP00000299954:R35Q	ENSP00000299954:R35Q	R	+	2	0	PITPNC1	62959435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.714000	0.92807	0.561000	0.74099	CGG		0.532	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		A	65528973	G	A	65528973	3	1	69	1	0	0	0	0	1	0	0	0	11949	1116	39	2	110	2	PITPNC1	17	65528973	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	25855812	65528973	15666237	59	4629											
ELAVL1	1994	broad.mit.edu	37	chr19	8028639	8028639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccggaggaggcgtttcctgGcacgttgacgccagagagcc	7	6	16	12	4	0	2	0	1	0	1	1	5	1	4	4	4	1	3	4	4	0	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:8028639G>A	ENST00000407627.2	-	6	838	c.709C>T	c.(709-711)Cca>Tca	p.P237S	ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Missense_Mutation_p.P237S|ELAVL1_ENST00000351593.5_Missense_Mutation_p.P264S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	237					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCGTTTCCTGGCACGTTGACG	0.632																																						uc002mjb.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(709-711)Cca>Tca		Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.							58	48	51					19																	8028639		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8028639G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.709C>T	19.37:g.8028639G>A	ENSP00000385269:p.Pro237Ser						p.P237S	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			5	876	-			237					B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.709C>T	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796316	0.31777	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.17054	2.34;2.3	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);	0.048756	0.85682	D	0.000000	T	0.13157	0.0319	N	0.25890	0.77	0.51767	D	0.999931	B	0.02656	0.0	B	0.04013	0.001	T	0.07966	-1.0745	10	0.30854	T	0.27	.	13.2643	0.60125	0.0:0.159:0.841:0.0	.	237	Q15717	ELAV1_HUMAN	S	237;264	ENSP00000385269:P237S;ENSP00000264073:P264S	ENSP00000264073:P264S	P	-	1	0	ELAVL1	7934639	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	6.215000	0.72206	2.767000	0.95098	0.655000	0.94253	CCA		0.632	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		A	8028639	G	A	8028639	3	1	69	1	0	0	0	0	1	0	0	0	5049	1203	42	3	275	3	ELAVL1	19	8028639	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		8028639	51100344	60	4630											
PDE4A	5141	broad.mit.edu	37	chr19	10574494	10574494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaacatggtgcactgtgCcgacctcagcaaccccacca	10	5	9	17	2	1	0	1	0	0	0	1	2	1	1	6	2	5	2	6	2	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:10574494C>T	ENST00000352831.6	+	14	1879	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	PDE4A_ENST00000344979.3_Missense_Mutation_p.A351V|PDE4A_ENST00000380702.2_Missense_Mutation_p.A568V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A529V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A568V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A564V	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	590	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GTGCACTGTGCCGACCTCAGC	0.617																																						uc002moj.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1768-1770)gCc>gTc		Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						96	79	85					19																	10574494		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10574494C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1769C>T	19.37:g.10574494C>T	ENSP00000270474:p.Ala590Val					PDE4A_uc021uow.1_Missense_Mutation_p.A568V|PDE4A_uc002mok.2_Missense_Mutation_p.A564V|PDE4A_uc002mol.2_Missense_Mutation_p.A529V|PDE4A_uc002mom.2_Missense_Mutation_p.A351V|PDE4A_uc002moo.2_Missense_Mutation_p.A256V	p.A590V	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		13	1877	+			590			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1769C>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	27.4	4.827068	0.90955	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	4.37	4.37	0.52481	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.99;0.998;0.999	D	0.95069	0.8202	10	0.87932	D	0	.	14.3881	0.66961	0.0:1.0:0.0:0.0	.	256;351;529;564;590	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	V	32;568;590;564;529;351;256	ENSP00000370078:A568V;ENSP00000270474:A590V;ENSP00000293683:A564V;ENSP00000394754:A529V;ENSP00000341007:A351V	ENSP00000293683:A564V	A	+	2	0	PDE4A	10435494	1.000000	0.71417	0.992000	0.48379	0.782000	0.44232	7.767000	0.85331	1.974000	0.57490	0.471000	0.43371	GCC		0.617	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			T	10574494	C	T	10574494	3	4	69	1	0	0	0	0	1	0	0	0	11639	739	26	3	2280	3	PDE4A	19	10574494	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	2545855	10574494	48554489	61	4631											
ZNF91	7644	broad.mit.edu	37	chr19	23542219	23542219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattttttagtagagaagggGtttcactgtgttagccagga	10	15	12	4	0	1	1	1	0	0	1	1	3	1	2	1	3	1	3	1	3	5	7			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:23542219G>A	ENST00000300619.7	-	4	3767	c.3562C>T	c.(3562-3564)Ccc>Tcc	p.P1188S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.P1156S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1188					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				tagagaaggggtttcactgtg	0.537																																						uc002nre.3																			0											c.(3562-3564)Ccc>Tcc		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							13	13	13					19																	23542219		1863	4045	5908	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542219G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3562C>T	19.37:g.23542219G>A	ENSP00000300619:p.Pro1188Ser					ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P1156S	p.P1188S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	3675	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1188					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3562C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	2.040	-0.420260	0.04734	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.04970	3.56;3.52	.	.	.	.	.	.	.	.	T	0.05640	0.0148	L	0.38175	1.15	0.23010	N	0.998439	B;B	0.21309	0.054;0.004	B;B	0.21917	0.037;0.001	T	0.38045	-0.9679	8	0.87932	D	0	.	5.5764	0.17225	2.0E-4:0.0:0.9998:0.0	.	1156;1188	Q05481-2;Q05481	.;ZNF91_HUMAN	S	1188;1156	ENSP00000300619:P1188S;ENSP00000380272:P1156S	ENSP00000300619:P1188S	P	-	1	0	ZNF91	23334059	0.001000	0.12720	0.128000	0.21923	0.126000	0.20510	0.042000	0.13949	0.088000	0.17205	0.089000	0.15464	CCC		0.537	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		A	23542219	G	A	23542219	3	1	69	1	0	0	0	0	1	0	0	0	18197	1261	44	3	17	3	ZNF91	19	23542219	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	12967725	23542219	35586764	62	4632											
CYP2A13	1553	broad.mit.edu	37	chr19	41597726	41597726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagggctggaggacttcatCgccaagaaggtggagcacaa	13	5	14	9	1	1	1	1	0	0	1	2	4	1	4	1	5	1	2	1	5	4	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:41597726C>T	ENST00000330436.3	+	5	744	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	AGGACTTCATCGCCAAGAAGG	0.557																																						uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(742-744)atC>atT		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						161	122	135					19																	41597726		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597726C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.744C>T	19.37:g.41597726C>T							p.I248I	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			4	753	+			248					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.744C>T	CCDS12571.1																																																																																				0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41597726	C	T	41597726	2	4	69	1	0	0	0	0	0	0	0	1	4161	874	31	2		2	CYP2A13	19	41597726	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	18055507	41597726	17531257	63	4633											
PPP1R12C	54776	broad.mit.edu	37	chr19	55624065	55624065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagccacaggaggcggcCacgtgcagtggcgtccagcc	8	4	16	13	3	0	0	0	0	0	0	1	1	1	1	4	5	3	2	4	5	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:55624065C>T	ENST00000263433.3	-	2	435	c.420G>A	c.(418-420)gtG>gtA	p.V140V	PPP1R12C_ENST00000376393.2_Silent_p.V140V|PPP1R12C_ENST00000435544.2_Silent_p.V66V	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGGAGGCGGCCACGTGCAGTG	0.667																																						uc002qix.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(418-420)gtG>gtA		Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.							61	55	57					19																	55624065		2203	4300	6503	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55624065C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.420G>A	19.37:g.55624065C>T						PPP1R12C_uc010yfs.2_Silent_p.V66V|PPP1R12C_uc002qiy.3_Silent_p.V140V	p.V140V	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	1	436	-			140						Silent	SNP	ENST00000263433.3	37	c.420G>A	CCDS12916.1																																																																																				0.667	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		T	55624065	C	T	55624065	2	4	69	1	0	0	0	0	0	0	0	1	12356	581	21	3		3	PPP1R12C	19	55624065	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	14026339	55624065	3504918	64	4634											
PREX1	57580	broad.mit.edu	37	chr20	47309262	47309262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcagtgttgattcgaccCctgaagatgtagagggagcc	10	10	12	9	1	1	4	1	2	0	2	2	6	1	5	3	1	1	2	3	1	2	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr20:47309262C>T	ENST00000371941.3	-	8	1006	c.984G>A	c.(982-984)agG>agA	p.R328R	PREX1_ENST00000396220.1_Silent_p.R328R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGATTCGACCCCTGAAGATGT	0.572																																						uc002xtw.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(982-984)agG>agA		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							236	187	204					20																	47309262		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47309262C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.984G>A	20.37:g.47309262C>T							p.R328R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		7	1007	-			328			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.984G>A	CCDS13410.1																																																																																				0.572	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47309262	C	T	47309262	2	4	69	1	0	0	0	0	0	0	0	1	12476	622	22	3		3	PREX1	20	47309262	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		47309262	15716258	65	4635											
TPTE	7179	broad.mit.edu	37	chr21	10906987	10906987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatctgatggataaattCtccgtgctttttgtttatgt	10	18	7	6	1	2	1	0	1	2	0	3	2	2	2	1	1	1	2	1	1	5	6	rs376317057	byFrequency	TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr21:10906987C>A	ENST00000361285.4	-	24	1903	c.1574G>T	c.(1573-1575)aGa>aTa	p.R525I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R507I|TPTE_ENST00000342420.5_Missense_Mutation_p.R487I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	525	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358													.|||	2	0.000399361	0.0015	0	5008	,	,		36204	0		0	False		,,,				2504	0					uc002yip.1																			0		p.T524I(1)|p.T524S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1573-1575)aGa>aTa		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.		T	ILE/ARG,ILE/ARG,ILE/ARG	1,4405		0,1,2202	124	111	116		1520,1460,1574	2.4	0.2	21		116	0,8600		0,0,4300	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	97,97,97	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign,benign	507/534,487/514,525/552	10906987	1,13005	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906987C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1574G>T	21.37:g.10906987C>A	ENSP00000355208:p.Arg525Ile					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R507I|TPTE_uc002yir.1_Missense_Mutation_p.R487I|TPTE_uc010gkv.1_Missense_Mutation_p.R387I	p.R525I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1942	-			525			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1574G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.035	0.762650	0.15914	2.27E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85556	-2.0;-2.0;-2.0	2.39	2.39	0.29439	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.246048	0.40302	U	0.001128	T	0.79257	0.4415	L	0.29908	0.895	0.26512	N	0.974585	B;B;P	0.34757	0.439;0.268;0.467	B;B;B	0.43838	0.306;0.225;0.433	T	0.71484	-0.4579	10	0.87932	D	0	-6.0425	6.033	0.19690	0.0:0.1407:0.0:0.8593	.	487;507;525	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	507;525;487	ENSP00000298232:R507I;ENSP00000355208:R525I;ENSP00000344441:R487I	ENSP00000298232:R507I	R	-	2	0	TPTE	9928858	1.000000	0.71417	0.167000	0.22817	0.003000	0.03518	2.119000	0.41958	0.341000	0.23771	-1.461000	0.01025	AGA		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10906987	C	A	10906987	3	1	69	1	0	0	0	0	1	0	0	0	16427	913	32	5	85	5	TPTE	21	10906987	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		10906987	37222908	66	4636											
B3GALT5	10317	broad.mit.edu	37	chr21	41033203	41033203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagagcgtcccatacatTaaactggaagacgtgtttgt	12	11	9	9	2	0	2	0	0	0	2	2	3	2	3	2	1	3	1	2	1	5	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr21:41033203T>G	ENST00000380620.4	+	5	1309	c.717T>G	c.(715-717)atT>atG	p.I239M	B3GALT5_ENST00000380618.1_Missense_Mutation_p.I239M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.I239M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.I239M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	239					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCCATACATTAAACTGGAAG	0.562																																						uc021wjj.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(715-717)atT>atG		Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.							94	94	94					21																	41033203		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033203T>G	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.717T>G	21.37:g.41033203T>G	ENSP00000369994:p.Ile239Met					B3GALT5_uc002yyb.1_Missense_Mutation_p.I239M|B3GALT5_uc002yye.2_Missense_Mutation_p.I239M|B3GALT5_uc002yyi.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyj.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyk.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyl.1_Missense_Mutation_p.I239M|B3GALT5_uc002yym.1_Missense_Mutation_p.I239M	p.I239M	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN			0	717	+		Prostate(19;2.55e-06)	239					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.717T>G	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223069	0.39300	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.64	-0.467	0.12150	.	0.343009	0.24001	N	0.042474	T	0.49609	0.1567	L	0.52364	1.645	0.36050	D	0.84069	P	0.51653	0.947	P	0.56042	0.79	T	0.55042	-0.8202	10	0.62326	D	0.03	.	7.3554	0.26717	0.0:0.4211:0.1198:0.4591	.	239	Q9Y2C3	B3GT5_HUMAN	M	239	ENSP00000369994:I239M;ENSP00000369992:I239M;ENSP00000343318:I239M;ENSP00000381699:I239M	ENSP00000343318:I239M	I	+	3	3	B3GALT5	39955073	0.916000	0.31088	0.137000	0.22149	0.049000	0.14656	-0.055000	0.11807	-0.308000	0.08792	-0.242000	0.12053	ATT		0.562	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		G	41033203	T	G	41033203	3	3	69	1	0	0	0	0	1	0	0	0	1250	1742	61	5	719	5	B3GALT5	21	41033203	Missense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	30126216	41033203	7096692	67	4637											
SLC35E4	339665	broad.mit.edu	37	chr22	31032455	31032455	+	Frame_Shift_Del	DEL	G	G	-																															cggatgtgccgctgcccgccGgagcaccatgatggcaggat																										TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr22:31032455delG	ENST00000343605.4	+	1	817	c.18delG	c.(16-18)ccgfs	p.P6fs	SLC35E4_ENST00000300385.8_Frame_Shift_Del_p.P6fs|SLC35E4_ENST00000406566.1_Frame_Shift_Del_p.P6fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	6						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCCGCCGGAGCACCATG	0.701																																						uc003ais.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(16-18)ccgfs		Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.							5	6	5					22																	31032455		2046	4033	6079	SO:0001589	frameshift_variant	339665					integral to membrane		g.chr22:31032455delG		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.18delG	22.37:g.31032455delG	ENSP00000339626:p.Pro6fs					SLC35E4_uc003ait.3_5'UTR	p.P6fs	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			0	663	+			6					Q567P0	Frame_Shift_Del	DEL	ENST00000343605.4	37	c.18delG	CCDS13882.1																																																																																				0.701	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		-	31032455	G	-	31032455	7	5	69	1	0	1	0	1	0	0	0	0	14587	1103	39	0	20	0	SLC35E4	22	31032455	Frame_Shift_Del	DEL	G	TCGA-06-0879-01A-01W-0424-08		31032455	20272111	68	4638											
GTSE1	51512	broad.mit.edu	37	chr22	46708130	46708130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgacaaacctgccccGggtgctgtcaatgtgccggc	6	8	11	16	2	1	1	1	1	0	0	2	1	2	1	5	2	4	1	5	2	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr22:46708130G>A	ENST00000454366.1	+	5	1067	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	266					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AACCTGCCCCGGGTGCTGTCA	0.577																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(853-855)ccG>ccA		Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.							37	42	40					22																	46708130		2203	4300	6503	SO:0001819	synonymous_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46708130G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.855G>A	22.37:g.46708130G>A						GTSE1_uc011aqz.2_Silent_p.P132P	p.P285P	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	1067	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	266					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	c.855G>A	CCDS14074.2																																																																																				0.577	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		A	46708130	G	A	46708130	2	1	69	1	0	0	0	0	0	0	0	1	6885	1103	39	2		2	GTSE1	22	46708130	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	15675675	46708130	4596436	69	4639											
AFF2	2334	broad.mit.edu	37	chrX	148072810	148072810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgaccaatcttgtccGctacgttcgccaaggactgt	9	10	9	13	3	1	1	0	1	1	0	3	2	2	2	3	1	2	3	3	1	3	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chrX:148072810G>A	ENST00000370460.2	+	21	4363	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	AFF2_ENST00000342251.3_Missense_Mutation_p.R1262H|AFF2_ENST00000286437.5_Missense_Mutation_p.R936H|AFF2_ENST00000370457.5_Missense_Mutation_p.R1260H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1295					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTTGTCCGCTACGTTCGC	0.527																																						uc004fcp.3																			0		p.V1294D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3883-3885)cGc>cAc		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							244	167	193					X																	148072810		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072810G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3884G>A	X.37:g.148072810G>A	ENSP00000359489:p.Arg1295His					AFF2_uc004fcq.3_Missense_Mutation_p.R1285H|AFF2_uc004fcr.3_Missense_Mutation_p.R1256H|AFF2_uc011mxb.2_Missense_Mutation_p.R1260H|AFF2_uc004fcs.3_Missense_Mutation_p.R1260H|AFF2_uc011mxc.2_Missense_Mutation_p.R936H	p.R1295H	NM_002025	NP_002016	P51816	AFF2_HUMAN			20	4363	+	Acute lymphoblastic leukemia(192;6.56e-05)		1295					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3884G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486606	0.84854	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.71685	0.3369	L	0.41356	1.27	0.80722	D	1	B;D;D;D;D;D	0.89917	0.195;1.0;0.999;1.0;1.0;1.0	B;D;D;D;D;D	0.91635	0.2;0.997;0.995;0.998;0.998;0.999	T	0.66184	-0.5987	10	0.18710	T	0.47	.	18.3933	0.90490	0.0:0.0:1.0:0.0	.	936;1260;1260;1256;1285;1295	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	1295;1260;1262;936	ENSP00000359489:R1295H;ENSP00000359486:R1260H;ENSP00000345459:R1262H;ENSP00000286437:R936H	ENSP00000286437:R936H	R	+	2	0	AFF2	147880516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.629000	0.74267	2.283000	0.76528	0.600000	0.82982	CGC		0.527	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148072810	G	A	148072810	3	1	69	1	0	0	0	0	1	0	0	0	357	1087	38	1	4021	1	AFF2	23	148072810	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		148072810	7197750	70	4640											
EXTL1	2134	broad.mit.edu	37	chr1	26360290	26360290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtggctggggctacaCtgctgagaggaccaacgaat	10	7	14	10	1	0	1	0	1	0	1	0	4	0	2	2	5	3	3	2	5	3	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:26360290C>T	ENST00000374280.3	+	9	2489	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	541					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCTACACTGCTGAGAGG	0.577																																						uc001blf.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1621-1623)aCt>aTt		Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.							98	93	95					1																	26360290		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360290C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1622C>T	1.37:g.26360290C>T	ENSP00000363398:p.Thr541Ile						p.T541I	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	8	2489	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	541					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1622C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576623	0.86645	.	.	ENSG00000158008	ENST00000374280	D	0.86562	-2.14	4.88	3.94	0.45596	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.131457	0.49916	D	0.000138	D	0.89434	0.6714	M	0.82193	2.58	0.45427	D	0.998401	P	0.37158	0.585	B	0.42959	0.403	D	0.89367	0.3672	10	0.49607	T	0.09	-4.6168	13.8078	0.63243	0.0:0.839:0.161:0.0	.	541	Q92935	EXTL1_HUMAN	I	541	ENSP00000363398:T541I	ENSP00000363398:T541I	T	+	2	0	EXTL1	26232877	1.000000	0.71417	0.975000	0.42487	0.971000	0.66376	5.896000	0.69822	1.233000	0.43693	0.561000	0.74099	ACT		0.577	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		T	26360290	C	T	26360290	3	4	70	1	0	0	0	0	1	0	0	0	5325	565	20	3	1656	3	EXTL1	1	26360290	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		26360290	222890331	1	4641											
COL24A1	255631	broad.mit.edu	37	chr1	86590905	86590905	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgatattgtcagacatgtTtaggagagagctaaatttct	12	15	10	4	0	2	3	1	1	1	2	2	5	2	4	0	1	1	2	0	1	4	6			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:86590905T>G	ENST00000370571.2	-	3	1480	c.1114A>C	c.(1114-1116)Aac>Cac	p.N372H	COL24A1_ENST00000436319.1_Missense_Mutation_p.N372H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	372					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCAGACATGTTTAGGAGAGAG	0.378																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1114-1116)Aac>Cac		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							159	140	146					1																	86590905		1916	4121	6037	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590905T>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1114A>C	1.37:g.86590905T>G	ENSP00000359603:p.Asn372His					COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.N372H	p.N372H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	2	1189	-			372					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1114A>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	2.043	-0.419620	0.04734	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17854	2.25;2.25	5.45	0.664	0.17890	.	0.619116	0.13395	N	0.391055	T	0.02230	0.0069	L	0.27053	0.805	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.17098	0.017;0.002	T	0.47275	-0.9130	10	0.13108	T	0.6	.	1.8691	0.03204	0.2545:0.0732:0.2315:0.4408	.	372;372	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	372	ENSP00000359603:N372H;ENSP00000392531:N372H	ENSP00000359603:N372H	N	-	1	0	COL24A1	86363493	0.788000	0.28762	0.000000	0.03702	0.024000	0.10985	2.077000	0.41557	-0.142000	0.11354	0.460000	0.39030	AAC		0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86590905	T	G	86590905	3	3	70	1	0	0	0	0	1	0	0	0	3683	1841	64	5	4262	5	COL24A1	1	86590905	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08	60230615	86590905	162659716	2	4642											
OR2G2	81470	broad.mit.edu	37	chr1	247751819	247751819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcattctggtttctcGtctggaacccaagcttcata	9	13	6	13	1	5	0	2	0	3	0	6	1	5	1	2	2	2	2	2	2	3	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:247751819G>A	ENST00000320065.1	+	1	158	c.158G>A	c.(157-159)cGt>cAt	p.R53H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGTTTCTCGTCTGGAACCC	0.418																																						uc010pyy.2																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(157-159)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.							260	238	246					1																	247751819		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751819G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.158G>A	1.37:g.247751819G>A	ENSP00000326349:p.Arg53His						p.R53H	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	158	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		53					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.158G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412501	0.01145	.	.	ENSG00000177489	ENST00000320065	T	0.01076	5.37	3.87	-5.57	0.02521	GPCR, rhodopsin-like superfamily (1);	2.124560	0.03063	N	0.156082	T	0.01156	0.0038	L	0.39633	1.23	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47711	-0.9096	10	0.14656	T	0.56	.	6.0996	0.20039	0.5326:0.0:0.3405:0.1268	.	53	Q8NGZ5	OR2G2_HUMAN	H	53	ENSP00000326349:R53H	ENSP00000326349:R53H	R	+	2	0	OR2G2	245818442	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.280000	0.02804	-1.755000	0.01320	-0.232000	0.12228	CGT		0.418	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			A	247751819	G	A	247751819	3	1	70	1	0	0	0	0	1	0	0	0	10998	1145	40	1	160	1	OR2G2	1	247751819	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	161160914	247751819	1498802	3	4643											
SCN9A	6335	broad.mit.edu	37	chr2	167141062	167141062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccagggagaccacaccGttgcagtccacagcactgtg	11	6	10	14	1	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	1	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:167141062G>A	ENST00000409435.1	-	11	1874	c.1875C>T	c.(1873-1875)aaC>aaT	p.N625N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.N626N|SCN9A_ENST00000409672.1_Silent_p.N625N|SCN9A_ENST00000375387.4_Silent_p.N626N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	625					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.N625N(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGACCACACCGTTGCAGTCCA	0.562																																						uc010fpl.3																			1	Substitution - coding silent(1)	p.N625N(2)	NS(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1873-1875)aaC>aaT		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						85	87	86					2																	167141062		2181	4294	6475	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141062G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1875C>T	2.37:g.167141062G>A						BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	p.N625N	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	2216	-			625					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1875C>T	CCDS46441.1																																																																																				0.562	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167141062	G	A	167141062	2	1	70	1	0	0	0	0	0	0	0	1	13925	1136	40	1		1	SCN9A	2	167141062	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08		167141062	76058311	4	4644											
TTN	7273	broad.mit.edu	37	chr2	179438641	179438641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatttctaactttgctGtgccttccagctcttttcca	5	21	4	11	0	2	0	0	0	2	0	4	0	4	0	3	0	4	2	3	0	2	9			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179438641G>C	ENST00000591111.1	-	276	67519	c.67295C>G	c.(67294-67296)aCa>aGa	p.T22432R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24073R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15008R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15133R|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15200R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21505R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22432	Ig-like 116.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTTTGCTGTGCCTTCCAG	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64513-64515)aCa>aGa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							76	70	72					2																	179438641		1855	4096	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438641G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67295C>G	2.37:g.179438641G>C	ENSP00000465570:p.Thr22432Arg					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15200R|TTN_uc021vta.1_Missense_Mutation_p.T15133R|TTN_uc021vtb.1_Missense_Mutation_p.T15008R	p.T21505R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	64739	-			22432			Fibronectin type-III 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64514C>G		.	.	.	.	.	.	.	.	.	.	G	10.97	1.501202	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.99	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41696	0.1170	L	0.33189	0.99	0.54753	D	0.999988	P;P;P;P	0.51933	0.949;0.949;0.949;0.949	P;P;P;P	0.48598	0.583;0.583;0.583;0.583	T	0.34675	-0.9819	9	0.87932	D	0	.	14.6419	0.68732	0.0694:0.0:0.9306:0.0	.	15008;15133;15200;22432	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	21505;15008;15200;15133;15006	ENSP00000343764:T21505R;ENSP00000434586:T15008R;ENSP00000340554:T15200R;ENSP00000352154:T15133R	ENSP00000340554:T15200R	T	-	2	0	TTN	179146887	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.484000	0.66844	2.843000	0.97960	0.655000	0.94253	ACA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179438641	G	C	179438641	3	2	70	1	0	0	0	0	1	0	0	0	16732	1377	48	5	35909	5	TTN	2	179438641	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	12297579	179438641	63760732	5	4645											
TTN	7273	broad.mit.edu	37	chr2	179615121	179615121	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaacagatgaaagAgttaatattgaatagttttc	16	14	9	2	0	0	7	0	5	0	2	1	7	0	7	0	0	1	2	0	0	6	6			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179615121A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Silent_p.T4002T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATGAAAGAGTTAATATTG	0.333																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							138	134	135					2																	179615121		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615121A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2729T>C	2.37:g.179615121A>G						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_5'Flank|TTN_uc002unb.2_Silent_p.T4002T		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																						0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179615121	A	G	179615121	1	3	70	0	1	0	0	0	0	0	0	0	16732	291	11	4		4	TTN	2	179615121	Intron	SNP	A	TCGA-06-0881-01A-02W-0424-08	176480	179615121	63584252	6	4646											
TTN	7273	broad.mit.edu	37	chr2	179647637	179647637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcgcgaatcataagaCgagcaattccactctggaag	13	9	9	10	3	2	1	1	0	1	1	4	4	3	2	1	1	2	2	1	1	4	3	rs371757623		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179647637C>T	ENST00000591111.1	-	18	3220	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	TTN_ENST00000589042.1_Missense_Mutation_p.R999H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R999H|TTN_ENST00000460472.2_Missense_Mutation_p.R953H|TTN_ENST00000359218.5_Missense_Mutation_p.R953H|TTN_ENST00000342175.6_Missense_Mutation_p.R953H|TTN_ENST00000342992.6_Missense_Mutation_p.R999H			Q8WZ42	TITIN_HUMAN	titin	32552	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCATAAGACGAGCAATTCC	0.493																																						uc021vsy.1																			0		p.A998D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2995-2997)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	102	99	100		2858,2996,2996,2858,2858	6.2	1	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	953/26927,999/33424,999/5605,953/27052,953/27119	179647637	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647637C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2996G>A	2.37:g.179647637C>T	ENSP00000465570:p.Arg999His					TTN_uc021vsz.1_Missense_Mutation_p.R953H|TTN_uc021vta.1_Missense_Mutation_p.R953H|TTN_uc021vtb.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	p.R999H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		17	3221	-			999			Ig-like 3.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2996G>A		.	.	.	.	.	.	.	.	.	.	C	13.95	2.389979	0.42410	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77329	0.4114	L	0.35644	1.08	0.34124	D	0.664483	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.74023	0.947;0.947;0.947;0.971;0.982	T	0.80863	-0.1192	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	953;953;953;999;999	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	999;953;953;953;953;999	ENSP00000343764:R999H;ENSP00000434586:R953H;ENSP00000340554:R953H;ENSP00000352154:R953H;ENSP00000354117:R999H	ENSP00000340554:R953H	R	-	2	0	TTN	179355882	1.000000	0.71417	0.972000	0.41901	0.368000	0.29767	4.876000	0.63079	2.941000	0.99782	0.655000	0.94253	CGT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179647637	C	T	179647637	3	4	70	1	0	0	0	0	1	0	0	0	16732	536	19	1	108372	1	TTN	2	179647637	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	32516	179647637	63551736	7	4647											
COL6A3	1293	broad.mit.edu	37	chr2	238245018	238245018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggggccggctttgcagCggctggcttcacagatggct	5	8	16	12	3	1	1	1	0	0	1	1	1	1	1	1	6	2	6	1	6	0	2	rs201917052		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:238245018C>T	ENST00000295550.4	-	40	9177	c.8725G>A	c.(8725-8727)Gct>Act	p.A2909T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2709T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2703T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2703T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2302T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2708T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2909	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCTTTGCAGCGGCTGGCTTC	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		15686	0		0	False		,,,				2504	0					uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8725-8727)Gct>Act		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							94	108	104					2																	238245018		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238245018C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8725G>A	2.37:g.238245018C>T	ENSP00000295550:p.Ala2909Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	p.A2909T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	39	9010	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2909			Ala-rich.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8725G>A	CCDS33412.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.307	1.054507	0.19907	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88664	-2.41;-2.38;-2.37;-2.37;-2.37;-2.36	4.74	-3.8	0.04307	.	0.967279	0.08473	N	0.940644	T	0.81791	0.4897	L	0.53249	1.67	0.09310	N	1	B;B;B	0.32731	0.063;0.104;0.382	B;B;B	0.25291	0.016;0.036;0.059	T	0.67960	-0.5535	10	0.40728	T	0.16	.	7.0757	0.25203	0.1148:0.2175:0.5842:0.0835	.	2302;2703;2909	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2909;2708;2703;2302;2703;2709	ENSP00000295550:A2909T;ENSP00000315609:A2708T;ENSP00000315873:A2703T;ENSP00000418285:A2302T;ENSP00000386844:A2703T;ENSP00000295546:A2709T	ENSP00000295550:A2909T	A	-	1	0	COL6A3	237909757	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.622000	0.05553	-0.509000	0.06532	-1.097000	0.02148	GCT		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238245018	C	T	238245018	3	4	70	1	0	0	0	0	1	0	0	0	3701	768	27	1	828	1	COL6A3	2	238245018	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	58597381	238245018	4954355	8	4648											
DAG1	1605	broad.mit.edu	37	chr3	49570453	49570453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaccccaaccagagtgtgCccgagaccactcctctgaac	11	6	8	16	1	1	3	0	1	1	2	2	4	2	3	6	0	4	1	6	0	3	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr3:49570453C>T	ENST00000539901.1	+	3	3067	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	DAG1_ENST00000545947.1_Missense_Mutation_p.P837S|DAG1_ENST00000308775.2_Missense_Mutation_p.P837S|DAG1_ENST00000541308.1_Missense_Mutation_p.P837S|DAG1_ENST00000538711.1_Missense_Mutation_p.P837S|DAG1_ENST00000515359.2_Missense_Mutation_p.P837S	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	837	Pro-rich.|Required for interaction with CAV3.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGAGTGTGCCCGAGACCAC	0.637																																						uc021wxz.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2509-2511)Ccc>Tcc		Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.							80	79	79					3																	49570453		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570453C>T	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2509C>T	3.37:g.49570453C>T	ENSP00000439334:p.Pro837Ser					DAG1_uc021wya.1_Missense_Mutation_p.P837S|DAG1_uc021wyb.1_Missense_Mutation_p.P837S|DAG1_uc021wyc.1_Missense_Mutation_p.P837S|DAG1_uc021wyd.1_Missense_Mutation_p.P837S|DAG1_uc021wye.1_Missense_Mutation_p.P837S|DAG1_uc021wyf.1_Missense_Mutation_p.P837S|DAG1_uc021wyg.1_Missense_Mutation_p.P837S|DAG1_uc021wyh.1_Missense_Mutation_p.P837S|DAG1_uc021wyi.1_Missense_Mutation_p.P837S|DAG1_uc021wyj.1_Missense_Mutation_p.P837S|DAG1_uc021wyk.1_Missense_Mutation_p.P837S|DAG1_uc003cxc.4_Missense_Mutation_p.P837S	p.P837S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	2978	+			837			Pro-rich.|Required for interaction with CAV3.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2509C>T	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132567	0.56828	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63603	-0.6600	9	.	.	.	-20.0526	18.6326	0.91366	0.0:1.0:0.0:0.0	.	837	Q14118	DAG1_HUMAN	S	837	ENSP00000440705:P837S;ENSP00000312435:P837S;ENSP00000442600:P837S;ENSP00000440590:P837S;ENSP00000439334:P837S;ENSP00000438421:P837S	.	P	+	1	0	DAG1	49545457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.897000	0.63231	2.694000	0.91930	0.650000	0.86243	CCC		0.637	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			T	49570453	C	T	49570453	3	4	70	1	0	0	0	0	1	0	0	0	4225	739	26	3	2515	3	DAG1	3	49570453	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		49570453	148451977	9	4649											
ANKRD17	26057	broad.mit.edu	37	chr4	73962983	73962983	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttcactgatagtttcTgacaatctttaacaaagaga	13	13	6	9	0	3	3	1	2	2	1	4	4	4	3	1	0	1	1	1	0	4	5			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:73962983T>G	ENST00000358602.4	-	27	5144	c.5028A>C	c.(5026-5028)tcA>tcC	p.S1676S	ANKRD17_ENST00000509867.2_Silent_p.S1563S|ANKRD17_ENST00000330838.6_Silent_p.S1425S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1676	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATAGTTTCTGACAATCTTT	0.333																																						uc003hgp.3																			0		p.L1675L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5026-5028)tcA>tcC		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							81	80	81					4																	73962983		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73962983T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5028A>C	4.37:g.73962983T>G						ANKRD17_uc003hgo.3_Silent_p.S1563S|ANKRD17_uc003hgq.3_Silent_p.S1425S|ANKRD17_uc003hgr.3_Silent_p.S1675S	p.S1676S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	5145	-	Breast(15;0.000295)		1676			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5028A>C	CCDS34004.1																																																																																				0.333	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73962983	T	G	73962983	2	3	70	1	0	0	0	0	0	0	0	1	646	1567	55	5		5	ANKRD17	4	73962983	Silent	SNP	T	TCGA-06-0881-01A-02W-0424-08		73962983	117191293	10	4650											
FGA	2243	broad.mit.edu	37	chr4	155506815	155506815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtggagtctcctctgttgTaactcgtgctactagtaaat	9	15	9	8	1	2	0	0	0	2	0	4	1	2	1	1	1	3	4	1	1	5	5			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:155506815T>C	ENST00000302053.3	-	5	1844	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C	FGA_ENST00000403106.3_Missense_Mutation_p.Y589C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	589					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCTCTGTTGTAACTCGTGCT	0.443																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1765-1767)tAc>tGc		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						133	128	130					4																	155506815		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506815T>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1766A>G	4.37:g.155506815T>C	ENSP00000306361:p.Tyr589Cys					FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	p.Y589C	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	1824	-	all_hematologic(180;0.215)	Renal(120;0.0458)	589					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1766A>G	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.15|16.15	3.042211|3.042211	0.55003|0.55003	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.56611	.|0.45;2.75	5.41|5.41	-6.02|-6.02	0.02192|0.02192	.|.	.|15.340500	.|0.00166	.|N	.|0.000000	T|T	0.49864|0.49864	0.1582|0.1582	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|D;P	.|0.54964	.|0.969;0.947	.|P;B	.|0.49502	.|0.613;0.408	T|T	0.56848|0.56848	-0.7911|-0.7911	6|10	0.20046|0.45353	T|T	0.44|0.12	.|.	6.6124|6.6124	0.22759|0.22759	0.235:0.0:0.1413:0.6237|0.235:0.0:0.1413:0.6237	.|.	.|589;589	.|P02671-2;P02671	.|.;FIBA_HUMAN	A|C	231|589	.|ENSP00000306361:Y589C;ENSP00000385981:Y589C	ENSP00000407891:T231A|ENSP00000306361:Y589C	T|Y	-|-	1|2	0|0	FGA|FGA	155726265|155726265	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.260000|-0.260000	0.08708|0.08708	-1.077000|-1.077000	0.03121|0.03121	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.443	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		C	155506815	T	C	155506815	3	2	70	1	0	0	0	0	1	0	0	0	5830	1638	57	4	886	4	FGA	4	155506815	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08	81543832	155506815	35647461	11	4651											
CDH18	1016	broad.mit.edu	37	chr5	19520824	19520825	+	Missense_Mutation	DNP	GG	GG	AC																															attccctggcaagttcgggtGgattgtcattgacatccaga																										TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:19520824_19520825GG>AC	ENST00000507958.1	-	12	2443_2444	c.1453_1454CC>GT	c.(1453-1455)CCa>GTa	p.P485V	CDH18_ENST00000506372.1_Missense_Mutation_p.P485V|CDH18_ENST00000274170.4_Missense_Mutation_p.P485V|CDH18_ENST00000502796.1_Missense_Mutation_p.P485V|CDH18_ENST00000382275.1_Missense_Mutation_p.P485V|CDH18_ENST00000511273.1_Missense_Mutation_p.P485V			Q13634	CAD18_HUMAN	cadherin 18, type 2	485	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAGTTCGGGTGGATTGTCATTG	0.381																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1453-1455)cca>GTa		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.																																				SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520824_19520825GG>AC	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1453_1454delinsAC	5.37:g.19520824_19520825delinsAC	ENSP00000425093:p.Pro485Val					CDH18_uc011cnm.2_Missense_Mutation_p.P485V|CDH18_uc003jgc.3_Missense_Mutation_p.P485V|CDH18_uc021xwu.1_Missense_Mutation_p.P485V	p.P485V	NM_004934	NP_004925	Q13634	CAD18_HUMAN			9	1987_1988	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		485			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	DNP	ENST00000507958.1	37	c.1453_1454CC>GT	CCDS3889.1																																																																																				0.381	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		AC	19520825	GG	AC	19520824	3	1	70	1	0	0	0	0	1	0	0	0	3103	1348	47	3	934	3	CDH18	5	19520824	Missense_Mutation	DNP	GG	TCGA-06-0881-01A-02W-0424-08		19520824	161394436	12	4652											
PCDHB16	57717	broad.mit.edu	37	chr5	140563145	140563145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactcttctcctgcaggtGgtggacgtgaatgacaatcc	8	11	11	11	1	2	2	0	2	2	0	4	3	3	3	2	3	2	2	2	3	2	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140563145G>T	ENST00000361016.2	+	1	2166	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGCAGGTGGTGGACGTGA	0.502																																						uc003liv.3																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1009-1011)gtG>gtT		Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.							93	100	97					5																	140563145		2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563145G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1011G>T	5.37:g.140563145G>T							p.V337V	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2166	+			337			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1011G>T	CCDS4251.1																																																																																				0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140563145	G	T	140563145	2	4	70	1	0	0	0	0	0	0	0	1	11541	1335	47	5		5	PCDHB16	5	140563145	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	121042321	140563145	40352115	13	4653											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720392	140720392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgagccgggactcttctcGgtgggtctgcacacgggcga	6	7	16	12	5	3	0	0	0	3	0	4	3	3	1	1	4	3	1	1	4	0	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140720392G>A	ENST00000394576.2	+	1	1854	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.677																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1852-1854)tcG>tcA		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							38	46	43					5																	140720392		2195	4294	6489	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720392G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1854G>A	5.37:g.140720392G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S618S	p.S618S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2039	+			620			Cadherin 6.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1854G>A	CCDS47289.1																																																																																				0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140720392	G	A	140720392	2	1	70	1	0	0	0	0	0	0	0	1	11554	1103	39	2		2	PCDHGA2	5	140720392	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	157247	140720392	40194868	14	4654											
TUBB	203068	broad.mit.edu	37	chr6	30690337	30690337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaggtgatcagtgatgaAcatggcatcgaccccaccgg	10	7	14	10	2	1	3	1	3	0	0	2	5	1	4	3	4	1	1	3	4	1	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30690337A>G	ENST00000327892.8	+	2	387	c.81A>G	c.(79-81)gaA>gaG	p.E27E	TUBB_ENST00000435534.1_Silent_p.E27E|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000396389.1_Silent_p.E9E|TUBB_ENST00000330914.3_5'UTR	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	27					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTGATGAACATGGCATCG	0.562																																						uc003nrl.3																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(79-81)gaA>gaG		Homo sapiens tubulin, beta class I (TUBB), mRNA.	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						81	56	65					6																	30690337		1511	2709	4220	SO:0001819	synonymous_variant	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30690337A>G	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.81A>G	6.37:g.30690337A>G						TUBB_uc011dmq.2_5'UTR	p.E27E	NM_178014	NP_821133	P07437	TBB5_HUMAN			1	208	+			27					P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	c.81A>G	CCDS4687.1																																																																																				0.562	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		G	30690337	A	G	30690337	2	3	70	1	0	0	0	0	0	0	0	1	16749	40	2	4		4	TUBB	6	30690337	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08		30690337	140424730	15	4655											
DPCR1	135656	broad.mit.edu	37	chr6	30919762	30919762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacacccagaaaagaccaCgtcaaccacagagaaaacca	21	1	6	13	1	1	4	1	0	0	4	1	5	1	4	4	0	3	0	4	0	6	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30919762C>T	ENST00000462446.1	+	2	3549	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M	DPCR1_ENST00000304311.2_Missense_Mutation_p.T16M|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAAGACCACGTCAACCACA	0.468																																						uc003nsg.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3520-3522)aCg>aTg		Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.							158	159	159					6																	30919762		2203	4300	6503	SO:0001583	missense	135656					integral to membrane		g.chr6:30919762C>T	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3521C>T	6.37:g.30919762C>T	ENSP00000417182:p.Thr1174Met						p.T1174M	NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN			1	3521	+			305					C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3521C>T	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018279	0.19355	.	.	ENSG00000168631	ENST00000462446;ENST00000304311	T;T	0.36157	1.27;1.43	3.77	0.844	0.18943	.	.	.	.	.	T	0.07954	0.0199	L	0.35854	1.095	0.09310	N	1	P	0.42584	0.784	B	0.29524	0.103	T	0.13522	-1.0506	9	0.49607	T	0.09	.	5.2116	0.15320	0.0:0.5586:0.1587:0.2827	.	1174	E9PEI6	.	M	1174;16	ENSP00000417182:T1174M;ENSP00000305948:T16M	ENSP00000305948:T16M	T	+	2	0	DPCR1	31027741	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.139000	0.10358	0.030000	0.15379	-1.688000	0.00730	ACG		0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		T	30919762	C	T	30919762	3	4	70	1	0	0	0	0	1	0	0	0	4712	536	19	1	3527	1	DPCR1	6	30919762	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	229425	30919762	140195305	16	4656											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	70	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		55221822	103916841	17	4657											
RSBN1L	222194	broad.mit.edu	37	chr7	77378833	77378833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacaaagagaatgaaaaaCggaagcgtccgaaaatgtat	21	5	9	6	3	0	2	0	1	0	1	1	5	1	3	1	1	3	1	1	1	9	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:77378833C>T	ENST00000334955.8	+	3	823	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	266	Lys-rich.					nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGAAAAACGGAAGCGTCC	0.353																																						uc010ldt.1																			0		p.R266L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(796-798)Cgg>Tgg		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							70	64	66					7																	77378833		1836	4076	5912	SO:0001583	missense	222194					nucleus		g.chr7:77378833C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.796C>T	7.37:g.77378833C>T	ENSP00000334040:p.Arg266Trp						p.R266W	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			2	840	+			266			Lys-rich.		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.796C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274492	0.59649	.	.	ENSG00000187257	ENST00000334955	T	0.08370	3.1	5.95	3.97	0.46021	.	0.060349	0.64402	D	0.000004	T	0.21307	0.0513	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.00857	-1.1538	10	0.66056	D	0.02	-9.993	13.8664	0.63592	0.4072:0.5928:0.0:0.0	.	266	Q6PCB5	RSBNL_HUMAN	W	266	ENSP00000334040:R266W	ENSP00000334040:R266W	R	+	1	2	RSBN1L	77216769	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.513000	0.22770	1.514000	0.48869	0.655000	0.94253	CGG		0.353	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		T	77378833	C	T	77378833	3	4	70	1	0	0	0	0	1	0	0	0	13697	527	19	1	806	1	RSBN1L	7	77378833	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	22157011	77378833	81759830	18	4658											
SEMA3E	9723	broad.mit.edu	37	chr7	82997239	82997239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtgattttacggaccGtatggacaaagctatgctct	11	11	10	9	2	1	1	0	1	1	0	1	3	1	3	2	3	3	3	2	3	5	4	rs375536813		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:82997239G>A	ENST00000307792.3	-	17	2458	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	SEMA3E_ENST00000427262.1_Missense_Mutation_p.T604M	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	664	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTACGGACCGTATGGACAAA	0.458																																						uc003uhy.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1990-1992)aCg>aTg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	132	117	122		1811,1991	5.8	0	7		122	0,8600		0,0,4300	no	missense,missense	SEMA3E	NM_001178129.1,NM_012431.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	604/716,664/776	82997239	1,13005	2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997239G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1991C>T	7.37:g.82997239G>A	ENSP00000303212:p.Thr664Met					SEMA3E_uc022agy.1_Missense_Mutation_p.T604M	p.T664M	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			16	2612	-		Medulloblastoma(109;0.109)	664			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1991C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386536	0.61956	2.27E-4	0.0	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.01665	4.7;4.7	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.04815	0.0130	M	0.82132	2.575	0.58432	D	0.999995	P	0.51449	0.945	B	0.43658	0.426	T	0.09574	-1.0668	10	0.56958	D	0.05	.	13.212	0.59830	0.0726:0.0:0.9274:0.0	.	664	O15041	SEM3E_HUMAN	M	664;604;664	ENSP00000303212:T664M;ENSP00000405052:T604M	ENSP00000303212:T664M	T	-	2	0	SEMA3E	82835175	1.000000	0.71417	0.049000	0.19019	0.966000	0.64601	4.360000	0.59455	2.727000	0.93392	0.585000	0.79938	ACG		0.458	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	82997239	G	A	82997239	3	1	70	1	0	0	0	0	1	0	0	0	14028	1145	40	1	340	1	SEMA3E	7	82997239	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	5618406	82997239	76141424	19	4659											
MYOM2	9172	broad.mit.edu	37	chr8	2040299	2040299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggactgctgtgtggccGgaaccaacctctgggagccc	7	7	14	13	2	1	0	0	0	1	0	1	3	1	3	4	4	4	1	4	4	2	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2040299G>A	ENST00000262113.4	+	16	2095	c.1954G>A	c.(1954-1956)Gga>Aga	p.G652R	MYOM2_ENST00000523438.1_Missense_Mutation_p.G77R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	652	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGTGGCCGGAACCAACCT	0.607																																						uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1954-1956)Gga>Aga		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							139	110	120					8																	2040299		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040299G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1954G>A	8.37:g.2040299G>A	ENSP00000262113:p.Gly652Arg					MYOM2_uc011kwi.2_Missense_Mutation_p.G77R	p.G652R	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	2092	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	652			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1954G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217399	0.79352	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.59083	0.29;0.29	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	M	0.88310	2.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81090	-0.1090	10	0.41790	T	0.15	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	652	P54296	MYOM2_HUMAN	R	652;77	ENSP00000262113:G652R;ENSP00000428396:G77R	ENSP00000262113:G652R	G	+	1	0	MYOM2	2027706	1.000000	0.71417	0.209000	0.23619	0.372000	0.29890	9.480000	0.97931	2.705000	0.92388	0.555000	0.69702	GGA		0.607	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2040299	G	A	2040299	3	1	70	1	0	0	0	0	1	0	0	0	10092	1117	39	2	2012	2	MYOM2	8	2040299	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08		2040299	144323723	20	4660											
CSMD1	64478	broad.mit.edu	37	chr8	2855644	2855644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcacgacatcattcaGgttgaactcactgccattag	13	11	7	10	1	4	1	4	1	0	0	4	3	4	1	1	1	2	1	1	1	3	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2855644G>C	ENST00000520002.1	-	55	8824	c.8269C>G	c.(8269-8271)Ctg>Gtg	p.L2757V	CSMD1_ENST00000537824.1_Missense_Mutation_p.L2756V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2699V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2699V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2698V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2757V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2757	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACATCATTCAGGTTGAACTCA	0.527																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(8266-8268)Ctg>Gtg		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							143	139	140					8																	2855644		2018	4190	6208	SO:0001583	missense	64478					integral to membrane		g.chr8:2855644G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8269C>G	8.37:g.2855644G>C	ENSP00000430733:p.Leu2757Val					CSMD1_uc011kwj.2_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.3_Missense_Mutation_p.L767V	p.L2756V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8656	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2757			Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8266C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.945191|2.945191	0.53079|0.53079	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01|.	6.07|6.07	5.09|5.09	0.68999|0.68999	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.34483|0.34483	0.0899|0.0899	N|N	0.13352|0.13352	0.335|0.335	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.992;0.961;0.999|.	D;D;D|.	0.85130|.	0.987;0.912;0.997|.	T|T	0.17653|0.17653	-1.0362|-1.0362	10|5	0.30078|.	T|.	0.28|.	.|.	4.0625|4.0625	0.09846|0.09846	0.3048:0.0:0.6952:0.0|0.3048:0.0:0.6952:0.0	.|.	2757;2757;2698|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	V|R	2699;2757;2618;2756;2698|2173	ENSP00000383047:L2699V;ENSP00000430733:L2757V;ENSP00000441462:L2756V;ENSP00000446243:L2698V|.	ENSP00000320445:L2618V|.	L|P	-|-	1|2	2|0	CSMD1|CSMD1	2843051|2843051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.456000|0.456000	0.32438|0.32438	4.087000|4.087000	0.57671|0.57671	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	2855644	G	C	2855644	3	2	70	1	0	0	0	0	1	0	0	0	3944	991	35	5	2496	5	CSMD1	8	2855644	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	815345	2855644	143508378	21	4661											
CDH17	1015	broad.mit.edu	37	chr8	95188833	95188833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaacgtgggtcgattgtcGttgatgtccttcacttttat	8	16	10	7	3	1	2	1	1	0	1	4	3	2	2	1	1	1	1	1	1	2	5	rs148638200	byFrequency	TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:95188833G>A	ENST00000027335.3	-	5	484	c.360C>T	c.(358-360)aaC>aaT	p.N120N	CDH17_ENST00000450165.2_Silent_p.N120N|CDH17_ENST00000441892.2_Silent_p.N120N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCGATTGTCGTTGATGTCCT	0.483																																						uc003ygh.2																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(358-360)aaC>aaT		Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.		A	,	10,4396	16.8+/-37.8	0,10,2193	246	206	220		360,360	-7.7	0.5	8	dbSNP_134	220	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDH17	NM_001144663.1,NM_004063.3	,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,	120/833,120/833	95188833	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95188833G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.360C>T	8.37:g.95188833G>A						CDH17_uc011lgo.1_Silent_p.N120N|CDH17_uc011lgp.1_Silent_p.N120N	p.N120N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	485	-	Breast(36;4.65e-06)		120			Cadherin 1.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.360C>T	CCDS6260.1																																																																																				0.483	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		A	95188833	G	A	95188833	2	1	70	1	0	0	0	0	0	0	0	1	3102	1136	40	1		1	CDH17	8	95188833	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	92333189	95188833	51175189	22	4662											
FAM75C1	441452	broad.mit.edu	37	chr9	90536517	90536517	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttgaggagtgactcAggaagtgatttattaagacg	13	10	12	6	1	1	4	1	3	0	1	1	6	1	6	1	2	1	0	1	2	4	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:90536517A>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGTGACTCAGGAAGTGATT	0.507																																						uc010mqi.3																			0											c.(1693-1695)tcA>tcT		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							9	12	11					9																	90536517		692	1590	2282			441452							g.chr9:90536517A>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536517A>T						FAM75C1_uc004apq.4_Silent_p.S548S	p.S565S	NM_001145124	NP_001138596					3	1724	+									Silent	SNP	ENST00000602681.1	37	c.1695A>T																																																																																					0.507	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		T	90536517	A	T	90536517	1	4	70	0	1	0	0	0	0	0	0	0	5623	175	7	5		5	FAM75C1	9	90536517	RNA	SNP	A	TCGA-06-0881-01A-02W-0424-08		90536517	50676914	23	4663											
OR13C4	138804	broad.mit.edu	37	chr9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctgtggccgagttcGttcgcaagatggtgtagagg	6	12	15	8	3	1	2	0	0	1	2	4	3	2	2	2	3	0	4	2	3	2	4	rs139144967		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:107288808G>A	ENST00000277216.3	-	1	682	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403																																						uc011lvn.2																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(682-684)aCg>aTg		Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	122	123	123		683	2.5	0.7	9	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR13C4	NM_001001919.1	81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	228/319	107288808	4,13002	2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288808G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.683C>T	9.37:g.107288808G>A	ENSP00000277216:p.Thr228Met						p.T228M	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			0	683	-			228					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.683C>T	CCDS35088.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.045	-1.271245	0.01421	6.81E-4	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00048	8.82	3.66	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.215104	0.32068	N	0.006638	T	0.00039	0.0001	N	0.00260	-1.75	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12344	-1.0551	10	0.40728	T	0.16	.	7.4383	0.27169	0.8898:0.0:0.1102:0.0	.	228	Q8NGS5	O13C4_HUMAN	M	228;257	ENSP00000277216:T228M	ENSP00000277216:T228M	T	-	2	0	OR13C4	106328629	0.966000	0.33281	0.670000	0.29842	0.002000	0.02628	1.659000	0.37387	0.551000	0.29008	-0.385000	0.06624	ACG		0.403	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			A	107288808	G	A	107288808	3	1	70	1	0	0	0	0	1	0	0	0	10936	1145	40	1	275	1	OR13C4	9	107288808	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	16752291	107288808	33924623	24	4664											
PTEN	5728	broad.mit.edu	37	chr10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttatcaaacccttttGtgaagatcttgaccaatggc	13	12	7	9	0	2	4	1	2	1	2	2	4	2	4	2	1	2	0	2	1	5	4	rs587782343		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr10:89692830G>A	ENST00000371953.3	+	5	1671	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> F (in BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BRRS). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		63	Whole gene deletion(37)|Substitution - Missense(11)|Deletion - Frameshift(10)|Unknown(5)	p.0?(37)|p.C105F(12)|p.C105S(6)|p.?(5)|p.R55fs*1(5)|p.C105Y(4)|p.C105W(4)|p.C105fs*2(2)|p.Y27fs*1(2)|p.C105fs*1(2)|p.Y27_N212>Y(2)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	central_nervous_system(23)|prostate(16)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM991080	PTEN	M		c.(313-315)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							112	104	106					10																	89692830		2203	4297	6500	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692830G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.314G>A	10.37:g.89692830G>A	ENSP00000361021:p.Cys105Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C105Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1346	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.314G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628440	0.87560	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94848	0.8011	9	.	.	.	-9.9762	18.4584	0.90729	0.0:0.0:1.0:0.0	.	105	P60484	PTEN_HUMAN	Y	105	ENSP00000361021:C105Y	.	C	+	2	0	PTEN	89682810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	TGT		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692830	G	A	89692830	3	1	70	1	0	0	0	0	1	0	0	0	12738	1377	48	3	332	3	PTEN	10	89692830	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08		89692830	45841917	25	4665											
SYNJ2BP	55333	broad.mit.edu	37	chr14	70839825	70839825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccttcacctcgatgtccTataggtccattctgcacctg	6	13	6	16	1	2	0	1	0	1	0	6	1	5	0	6	1	1	1	6	1	2	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr14:70839825T>C	ENST00000256366.4	-	4	402	c.321A>G	c.(319-321)atA>atG	p.I107M	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	107					intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTCGATGTCCTATAGGTCCAT	0.473																																						uc021rvn.1																			0											c.(319-321)atA>atG		Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.							129	105	113					14																	70839825		2203	4300	6503	SO:0001583	missense	55333							g.chr14:70839825T>C	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"activin receptor interacting protein 5"	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.321A>G	14.37:g.70839825T>C	ENSP00000256366:p.Ile107Met					SYNJ2BP-COX16_uc021rvm.1_Intron|SYNJ2BP-COX16_uc021rvo.1_Intron|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.I107M	p.I107M	NM_001202547	NP_001189476					3	448	-								Q49SH3|Q96IA4	Missense_Mutation	SNP	ENST00000256366.4	37	c.321A>G	CCDS9803.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734123	0.30684	.	.	ENSG00000213463	ENST00000256366	T	0.18174	2.23	5.45	0.293	0.15742	PDZ/DHR/GLGF (1);	1.368040	0.04586	N	0.395911	T	0.09774	0.0240	N	0.22421	0.69	0.21762	N	0.999557	B	0.09022	0.002	B	0.17098	0.017	T	0.32428	-0.9907	10	0.14656	T	0.56	-0.0049	1.0439	0.01565	0.191:0.1251:0.3336:0.3503	.	107	P57105	SYJ2B_HUMAN	M	107	ENSP00000256366:I107M	ENSP00000256366:I107M	I	-	3	3	SYNJ2BP	69909578	0.000000	0.05858	0.481000	0.27354	0.992000	0.81027	-0.398000	0.07259	0.146000	0.19002	0.533000	0.62120	ATA		0.473	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		C	70839825	T	C	70839825	3	2	70	1	0	0	0	0	1	0	0	0	15451	1512	53	4	120	4	SYNJ2BP	14	70839825	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08		70839825	36509715	26	4666											
DNAH3	55567	broad.mit.edu	37	chr16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagggaacatccgcaggCggttcctgaaggcatcccct	9	6	13	13	3	0	1	0	1	0	0	3	3	3	2	4	4	1	3	4	4	3	1	rs544149586		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:20994175C>T	ENST00000261383.3	-	49	7726	c.7727G>A	c.(7726-7728)cGc>cAc	p.R2576H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2576	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2576H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507													C|||	1	0.000199681	0	0	5008	,	,		16459	0		0	False		,,,				2504	0.001					uc010vbe.2																			2	Substitution - Missense(2)	p.R2576H(3)	large_intestine(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(7726-7728)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							103	99	100					16																	20994175		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20994175C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7727G>A	16.37:g.20994175C>T	ENSP00000261383:p.Arg2576His					DNAH3_uc010vbd.2_Missense_Mutation_p.R11H	p.R2576H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7727	-			2576			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7727G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339835	0.95783	.	.	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.83	4.89	0.63831	Dynein heavy chain, P-loop containing D4 domain (1);	0.064404	0.64402	D	0.000006	T	0.76737	0.4029	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82099	-0.0625	10	0.72032	D	0.01	.	15.2161	0.73267	0.0:0.9326:0.0:0.0674	.	2576	Q8TD57	DYH3_HUMAN	H	2576	ENSP00000261383:R2576H	ENSP00000261383:R2576H	R	-	2	0	DNAH3	20901676	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.904000	0.63279	1.484000	0.48361	0.655000	0.94253	CGC		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20994175	C	T	20994175	3	4	70	1	0	0	0	0	1	0	0	0	4603	768	27	1	4678	1	DNAH3	16	20994175	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		20994175	69360578	27	4667											
CDH8	1006	broad.mit.edu	37	chr16	61687974	61687974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaatggttcatttttatgCcgccgtagagttacaaacag	12	14	8	7	2	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	5	7			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:61687974C>T	ENST00000577390.1	-	12	2892	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	CDH8_ENST00000299345.6_Silent_p.R646R|CDH8_ENST00000577730.1_Silent_p.R646R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388																																						uc002eog.2																			0		p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cgG>cgA		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							65	64	64					16																	61687974		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687974C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1938G>A	16.37:g.61687974C>T							p.R646R	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2893	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1938G>A	CCDS10802.1																																																																																				0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	61687974	C	T	61687974	2	4	70	1	0	0	0	0	0	0	0	1	3116	726	26	3		3	CDH8	16	61687974	Silent	SNP	C	TCGA-06-0881-01A-02W-0424-08	40693799	61687974	28666779	28	4668											
FXR2	9513	broad.mit.edu	37	chr17	7507356	7507357	+	Frame_Shift_Ins	INS	-	-	C																															atcatccgcacccgggccagINSccaccagccacaaggttcct																										TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:7507356_7507357insC	ENST00000250113.7	-	4	604_605	c.270_271insG	c.(268-273)tggctgfs	p.L91fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	91	Agenet-like 2.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCCGGGCCAGCCACCAGCCAC	0.441																																						uc002gia.2																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(268-273)tggctgfs		Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7507356_7507357insC	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.271dupG	17.37:g.7507358_7507358dupC	ENSP00000250113:p.Leu91fs						p.W90fs	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	3	635_636	-			90					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.270_271insG	CCDS45604.1																																																																																				0.441	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			C	7507357	-	C	7507356	7	5	70	1	0	1	1	0	0	0	0	0	6116	962	34	0	1706	0	FXR2	17	7507356	Frame_Shift_Ins	INS	-	TCGA-06-0881-01A-02W-0424-08		7507356	73687854	29	4669											
MYH3	4621	broad.mit.edu	37	chr17	10537429	10537429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctcagtgctcaaggagCgggactccttcagggatgcc	9	7	14	11	1	3	1	3	0	0	1	4	4	4	4	2	3	4	2	2	3	1	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:10537429C>T	ENST00000583535.1	-	32	4514	c.4427G>A	c.(4426-4428)cGc>cAc	p.R1476H	MYH3_ENST00000226209.7_Missense_Mutation_p.R1476H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1476					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCAAGGAGCGGGACTCCTT	0.493																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4426-4428)cGc>cAc		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							126	121	123					17																	10537429		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537429C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4427G>A	17.37:g.10537429C>T	ENSP00000464317:p.Arg1476His						p.R1476H	NM_002470	NP_002461	P11055	MYH3_HUMAN			31	4515	-			1476					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4427G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670711	0.88348	.	.	ENSG00000109063	ENST00000226209	D	0.83755	-1.76	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.90195	0.6935	H	0.95745	3.715	0.47994	D	0.999568	P	0.43885	0.82	B	0.43478	0.421	D	0.93010	0.6431	9	0.87932	D	0	.	19.3282	0.94273	0.0:1.0:0.0:0.0	.	1476	P11055	MYH3_HUMAN	H	1476	ENSP00000226209:R1476H	ENSP00000226209:R1476H	R	-	2	0	MYH3	10478154	0.996000	0.38824	0.965000	0.40720	0.989000	0.77384	4.980000	0.63812	2.623000	0.88846	0.655000	0.94253	CGC		0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		T	10537429	C	T	10537429	3	4	70	1	0	0	0	0	1	0	0	0	10036	768	27	1	1435	1	MYH3	17	10537429	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	3030073	10537429	70657781	30	4670											
CCDC47	57003	broad.mit.edu	37	chr17	61830101	61830101	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacccagaatacttacCattaaatgtaaacaacagtg	19	8	6	8	0	0	1	0	0	0	1	0	2	0	2	2	1	4	1	2	1	9	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:61830101C>T	ENST00000225726.5	-	10	1475	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	CCDC47_ENST00000582252.1_Splice_Site_p.V365M|CCDC47_ENST00000403162.3_Splice_Site_p.V365M|RP11-51F16.8_ENST00000580553.1_5'Flank	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	365					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GAATACTTACCATTAAATGTA	0.373											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002jbs.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.e10+1		Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.							114	109	110					17																	61830101		2203	4300	6503	SO:0001630	splice_region_variant	57003					integral to membrane	protein binding	g.chr17:61830101C>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1093+1G>A	17.37:g.61830101C>T			OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1056	CCDC47_uc010ddx.3_Splice_Site_p.V365_splice|CCDC47_uc002jbt.2_Splice_Site_p.V365_splice	p.V365_splice	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			10	1429	-			365					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.1093_splice	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202421	0.58234	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	6.07	6.07	0.98685	.	0.052462	0.85682	D	0.000000	T	0.67552	0.2905	L	0.28694	0.88	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.83275	0.996;0.875	T	0.62338	-0.6875	8	.	.	.	-19.0664	19.6475	0.95784	0.0:1.0:0.0:0.0	.	365;365	Q96A33-2;Q96A33	.;CCD47_HUMAN	M	365	.	.	V	-	1	0	CCDC47	59183833	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.562000	0.82300	2.885000	0.99019	0.655000	0.94253	GTG		0.373	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	Missense_Mutation	T	61830101	C	T	61830101	5	4	70	1	0	0	0	0	0	0	1	0	2818	608	21	3	374	3	CCDC47	17	61830101	Splice_Site	SNP	C	TCGA-06-0881-01A-02W-0424-08	51292672	61830101	19365109	31	4671											
FCGBP	8857	broad.mit.edu	37	chr19	40376323	40376323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctacctcatagtagAcaccattgtggtagcagcca	11	10	9	11	0	1	1	1	0	0	1	2	1	2	1	4	2	3	4	4	2	4	6	rs377439998		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:40376323A>G	ENST00000221347.6	-	25	11988	c.11981T>C	c.(11980-11982)gTc>gCc	p.V3994A	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3994	Cys-rich.					extracellular vesicular exosome (GO:0070062)		p.V3994A(3)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGACACCATTGTG	0.562																																						uc002omp.4																			3	Substitution - Missense(3)	p.V3994A(6)	endometrium(2)|upper_aerodigestive_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11980-11982)gTc>gCc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							65	59	61					19																	40376323		2199	4300	6499	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40376323A>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11981T>C	19.37:g.40376323A>G	ENSP00000221347:p.Val3994Ala						p.V3994A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		24	11989	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3994			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.11981T>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	a	2.731	-0.264330	0.05754	.	.	ENSG00000090920	ENST00000221347	T	0.04360	3.64	3.4	-5.71	0.02413	von Willebrand factor, type C (1);	.	.	.	.	T	0.02418	0.0074	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49322	-0.8952	9	0.09590	T	0.72	.	7.1668	0.25695	0.2551:0.2893:0.4556:0.0	.	3994	Q9Y6R7	FCGBP_HUMAN	A	3994	ENSP00000221347:V3994A	ENSP00000221347:V3994A	V	-	2	0	FCGBP	45068163	0.000000	0.05858	0.034000	0.17996	0.099000	0.18886	1.012000	0.29924	-0.821000	0.04312	-0.850000	0.03035	GTC		0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40376323	A	G	40376323	3	3	70	1	0	0	0	0	1	0	0	0	5778	275	10	4	4284	4	FCGBP	19	40376323	Missense_Mutation	SNP	A	TCGA-06-0881-01A-02W-0424-08		40376323	18752660	32	4672											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960862	51960862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggcccggggaggacaCggaggccccaatccaggaga	10	2	18	11	2	0	1	0	0	0	1	1	5	1	4	4	8	0	0	4	8	1	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:51960862C>T	ENST00000321424.3	-	2	652	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	196	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGGAGGACACGGAGGCCCCA	0.657																																						uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(586-588)Gtg>Atg		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.							58	61	60					19																	51960862		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960862C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.586G>A	19.37:g.51960862C>T	ENSP00000321077:p.Val196Met					SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	p.V196M	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	653	-		all_neural(266;0.0199)	196			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.586G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	7.505	0.653527	0.14580	.	.	ENSG00000105366	ENST00000321424	T	0.20598	2.06	2.69	-5.38	0.02673	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.664823	0.12110	N	0.498597	T	0.16854	0.0405	M	0.72894	2.215	0.09310	N	1	B	0.21821	0.061	B	0.29598	0.104	T	0.39231	-0.9624	10	0.37606	T	0.19	.	0.0938	0.00042	0.3008:0.2541:0.1852:0.26	.	196	Q9NYZ4	SIGL8_HUMAN	M	196	ENSP00000321077:V196M	ENSP00000321077:V196M	V	-	1	0	SIGLEC8	56652674	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.367000	0.02583	-1.348000	0.02205	0.502000	0.49764	GTG		0.657	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		T	51960862	C	T	51960862	3	4	70	1	0	0	0	0	1	0	0	0	14314	536	19	1	937	1	SIGLEC8	19	51960862	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	11584539	51960862	7168121	33	4673											
C1orf177	163747	broad.mit.edu	37	chr1	55280638	55280638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaagaaatgcaaacccGtcaaccagcccccattcctg	15	5	7	14	1	1	2	1	0	0	2	2	3	2	2	5	0	4	1	5	0	5	1	rs201728919		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:55280638G>A	ENST00000371273.3	+	8	991	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	C1orf177_ENST00000358193.3_Missense_Mutation_p.V326I	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	326										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATGCAAACCCGTCAACCAGCC	0.552																																						uc001cyb.4																			0		p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(976-978)Gtc>Atc		Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	114	115	114		976,976	-0.4	0	1		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C1orf177	NM_152607.2,NM_001110533.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	326/415,326/419	55280638	1,13005	2203	4300	6503	SO:0001583	missense	163747							g.chr1:55280638G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.976G>A	1.37:g.55280638G>A	ENSP00000360320:p.Val326Ile					C1orf177_uc001cya.4_Missense_Mutation_p.V326I	p.V326I	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			7	1030	+			326					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.976G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	5.731	0.319377	0.10845	0.0	1.16E-4	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.20881	2.04;2.04	4.75	-0.448	0.12230	.	1.447220	0.04009	N	0.297848	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.12156	0.007;0.007	T	0.28839	-1.0031	10	0.21014	T	0.42	-4.9118	7.5365	0.27712	0.4894:0.0:0.5106:0.0	.	326;326	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	I	326	ENSP00000350924:V326I;ENSP00000360320:V326I	ENSP00000350924:V326I	V	+	1	0	C1orf177	55053226	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.014000	0.13333	-0.158000	0.11040	-0.471000	0.05019	GTC		0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		A	55280638	G	A	55280638	3	1	71	1	0	0	0	0	1	0	0	0	2017	1145	40	1	1006	1	C1orf177	1	55280638	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		55280638	193969983	1	4674											
FCRL4	83417	broad.mit.edu	37	chr1	157551332	157551332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaaacctgacttcctcCgacgccagcagtgaaacagc	13	5	8	15	2	0	2	0	2	0	0	2	3	2	2	4	0	5	2	4	0	2	1	rs150354637		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:157551332C>T	ENST00000271532.1	-	7	1373	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	413					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACTTCCTCCGACGCCAGCA	0.602																																						uc001fqw.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1237-1239)cGg>cAg		Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.		T	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	73	63	66		1238	-7.3	0	1	dbSNP_134	66	0,8600		0,0,4300	yes	missense	FCRL4	NM_031282.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	413/516	157551332	3,13003	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551332C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1238G>A	1.37:g.157551332C>T	ENSP00000271532:p.Arg413Gln					FCRL4_uc010phy.2_Non-coding_Transcript	p.R413Q	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1374	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	413					Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1238G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	4.274	0.050051	0.08243	6.81E-4	0.0	ENSG00000163518	ENST00000271532	T	0.20200	2.09	4.63	-7.34	0.01427	.	1.046640	0.07659	N	0.933255	T	0.01353	0.0044	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45469	-0.9259	10	0.09084	T	0.74	.	8.6377	0.33959	0.0:0.2257:0.1126:0.6617	.	413	Q96PJ5	FCRL4_HUMAN	Q	413	ENSP00000271532:R413Q	ENSP00000271532:R413Q	R	-	2	0	FCRL4	155817956	0.000000	0.05858	0.000000	0.03702	0.521000	0.34408	-1.342000	0.02645	-1.483000	0.01858	-1.688000	0.00730	CGG		0.602	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		T	157551332	C	T	157551332	3	4	71	1	0	0	0	0	1	0	0	0	5797	652	23	2	333	2	FCRL4	1	157551332	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	102270694	157551332	91699289	2	4675											
PAPPA2	60676	broad.mit.edu	37	chr1	176661413	176661413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaccaacaagtccctcacTatccactggctgcctcctat	10	9	5	17	0	1	1	1	0	0	1	4	1	4	1	5	1	2	1	5	1	4	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:176661413T>C	ENST00000367662.3	+	6	3747	c.2583T>C	c.(2581-2583)acT>acC	p.T861T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	861					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTCCCTCACTATCCACTGGC	0.502																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2581-2583)acT>acC		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							132	140	138					1																	176661413		2085	4228	6313	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661413T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2583T>C	1.37:g.176661413T>C						PAPPA2_uc009www.3_Non-coding_Transcript	p.T861T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3747	+			861					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2583T>C	CCDS41438.1																																																																																				0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176661413	T	C	176661413	2	2	71	1	0	0	0	0	0	0	0	1	11433	1509	53	4		4	PAPPA2	1	176661413	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	19110081	176661413	72589208	3	4676											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220335581	220335581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagaaaatcttttaactaAgaacgtattccacatcatca	17	11	4	9	1	3	2	2	0	1	2	4	2	4	2	1	0	3	2	1	0	6	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:220335581A>C	ENST00000358951.2	-	28	3300	c.3184T>G	c.(3184-3186)Tta>Gta	p.L1062V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1062					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTTTAACTAAGAACGTATTC	0.284																																						uc010puk.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3184-3186)Tta>Gta		Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.							124	121	122					1																	220335581		2203	4293	6496	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220335581A>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3184T>G	1.37:g.220335581A>C	ENSP00000351832:p.Leu1062Val					RAB3GAP2_uc021pjf.1_Missense_Mutation_p.L1062V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V	p.L1062V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	27	3348	-			1062					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3184T>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715107	0.48622	.	.	ENSG00000118873	ENST00000358951	T	0.47869	0.83	5.58	-3.45	0.04781	.	0.052373	0.64402	D	0.000001	T	0.23289	0.0563	L	0.27053	0.805	0.35460	D	0.79644	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.01966	-1.1238	10	0.31617	T	0.26	.	1.8768	0.03219	0.3879:0.0867:0.3179:0.2074	.	1062;1062	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1062	ENSP00000351832:L1062V	ENSP00000351832:L1062V	L	-	1	2	RAB3GAP2	218402204	1.000000	0.71417	0.388000	0.26195	0.993000	0.82548	0.898000	0.28404	-0.435000	0.07264	0.482000	0.46254	TTA		0.284	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		C	220335581	A	C	220335581	3	2	71	1	0	0	0	0	1	0	0	0	12936	69	3	5	1029	5	RAB3GAP2	1	220335581	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08	43674168	220335581	28915040	4	4677											
OTOF	9381	broad.mit.edu	37	chr2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggcggcagcctgcgCgggggatgtcctcccagtgc	5	5	16	15	3	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	0	0	rs143889717		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:26686908C>T	ENST00000272371.2	-	40	5153	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_ENST00000338581.6_Missense_Mutation_p.R909H|OTOF_ENST00000339598.3_Missense_Mutation_p.R909H|OTOF_ENST00000403946.3_Missense_Mutation_p.R1676H|OTOF_ENST00000402415.3_Missense_Mutation_p.R986H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1676					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.3																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(5026-5028)cGc>cAc		Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	72	71		2726,5027,2957,2726	4.4	0.9	2	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	909/1231,1676/1998,986/1308,909/1231	26686908	1,13005	2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26686908C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5027G>A	2.37:g.26686908C>T	ENSP00000272371:p.Arg1676His					OTOF_uc010yla.2_Missense_Mutation_p.R406H|OTOF_uc002rhh.3_Missense_Mutation_p.R909H|OTOF_uc002rhi.3_Missense_Mutation_p.R986H|OTOF_uc002rhj.3_Missense_Mutation_p.R909H	p.R1676H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			39	5154	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1676					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5027G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356612	0.82243	2.27E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.4	4.4	0.53042	.	0.120976	0.56097	D	0.000026	T	0.64505	0.2604	M	0.68952	2.095	0.80722	D	1	P;P;D;P	0.58970	0.946;0.793;0.984;0.601	P;B;P;B	0.54238	0.542;0.417;0.746;0.417	T	0.68845	-0.5301	10	0.52906	T	0.07	-19.7042	16.7839	0.85569	0.0:1.0:0.0:0.0	.	1676;909;986;909	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	909;909;986;1676;1676	ENSP00000345137:R909H;ENSP00000344521:R909H;ENSP00000383906:R986H;ENSP00000272371:R1676H;ENSP00000385255:R1676H	ENSP00000272371:R1676H	R	-	2	0	OTOF	26540412	0.992000	0.36948	0.911000	0.35937	0.418000	0.31294	5.898000	0.69838	2.264000	0.75181	0.561000	0.74099	CGC		0.667	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26686908	C	T	26686908	3	4	71	1	0	0	0	0	1	0	0	0	11303	768	27	1	1179	1	OTOF	2	26686908	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		26686908	216512465	5	4678											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3	rs373153121		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49207-49209)Gtg>Atg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151	150	151		29716,49207,30091,30292	5.2	1	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	p.V16403M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	49432	-			17330			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49207G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179463526	C	T	179463526	3	4	71	1	0	0	0	0	1	0	0	0	16732	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	152776618	179463526	63735847	6	4679											
CPS1	1373	broad.mit.edu	37	chr2	211469880	211469880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcagtgacaggttggaaaGaaatagaatatgaagtggtt	16	10	13	2	0	1	4	1	2	0	2	1	5	1	5	0	3	0	2	0	3	6	4			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:211469880G>C	ENST00000233072.5	+	17	2087	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q	CPS1_ENST00000451903.2_Missense_Mutation_p.E180Q|CPS1_ENST00000430249.2_Missense_Mutation_p.E637Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	631	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGGTTGGAAAGAAATAGAATA	0.408																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(1909-1911)Gaa>Caa		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							144	132	136					2																	211469880		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211469880G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1891G>C	2.37:g.211469880G>C	ENSP00000233072:p.Glu631Gln					CPS1_uc002vee.4_Missense_Mutation_p.E631Q|CPS1_uc010fus.3_Missense_Mutation_p.E180Q	p.E637Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	1991	+			631			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1909G>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740640	0.89573	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98585	-5.01;-5.01;-5.01	5.69	5.69	0.88448	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98249	1.0492	10	0.87932	D	0	-0.0045	19.8155	0.96566	0.0:0.0:1.0:0.0	.	641;631	Q59HF8;P31327	.;CPSM_HUMAN	Q	637;639;631;180	ENSP00000402608:E637Q;ENSP00000233072:E631Q;ENSP00000406136:E180Q	ENSP00000233072:E631Q	E	+	1	0	CPS1	211178125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.682000	0.91365	0.650000	0.86243	GAA		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			C	211469880	G	C	211469880	3	2	71	1	0	0	0	0	1	0	0	0	3823	943	33	5	1979	5	CPS1	2	211469880	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	32006354	211469880	31729493	7	4680											
COL4A4	1286	broad.mit.edu	37	chr2	227917071	227917071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccaggttccccaggtGttcccttttgtgaaatgata	8	13	11	9	0	0	2	0	2	0	0	3	3	3	2	4	3	0	2	4	3	2	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:227917071G>A	ENST00000396625.3	-	32	3125	c.2918C>T	c.(2917-2919)aCa>aTa	p.T973I	COL4A4_ENST00000329662.7_Missense_Mutation_p.T973I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	973	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCCCAGGTGTTCCCTTTTG	0.403																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2917-2919)aCa>aTa		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							116	114	115					2																	227917071		1842	4093	5935	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227917071G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2918C>T	2.37:g.227917071G>A	ENSP00000379866:p.Thr973Ile					COL4A4_uc021vxs.1_Missense_Mutation_p.T973I	p.T973I	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	30	3019	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	973			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2918C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578281	0.28180	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93189	-3.18;-3.18	5.55	0.22	0.15279	.	.	.	.	.	T	0.81945	0.4930	N	0.05124	-0.11	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.69228	-0.5200	9	0.37606	T	0.19	.	5.2551	0.15542	0.0:0.1537:0.2874:0.5589	.	973	P53420	CO4A4_HUMAN	I	973	ENSP00000379866:T973I;ENSP00000328553:T973I	ENSP00000328553:T973I	T	-	2	0	COL4A4	227625315	0.001000	0.12720	0.000000	0.03702	0.641000	0.38312	0.868000	0.27982	-0.177000	0.10690	-0.375000	0.07067	ACA		0.403	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227917071	G	A	227917071	3	1	71	1	0	0	0	0	1	0	0	0	3693	1377	48	3	2222	3	COL4A4	2	227917071	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	16447191	227917071	15282302	8	4681											
CNTN6	27255	broad.mit.edu	37	chr3	1427473	1427473	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagtcaatgttaccaccaAaaagtctcgtaagtatgcat	14	10	6	11	1	2	0	1	0	1	0	3	0	2	0	3	0	2	4	3	0	6	3	rs143460057		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:1427473A>G	ENST00000446702.2	+	20	3323	c.2696A>G	c.(2695-2697)aAa>aGa	p.K899R	CNTN6_ENST00000350110.2_Missense_Mutation_p.K899R|CNTN6_ENST00000539053.1_Missense_Mutation_p.K827R			Q9UQ52	CNTN6_HUMAN	contactin 6	899	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACCACCAAAAAGTCTCGT	0.453																																						uc003boz.3																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2695-2697)aAa>aGa		Homo sapiens contactin 6 (CNTN6), mRNA.		A	ARG/LYS	0,4406		0,0,2203	116	114	115		2696	5.8	1	3	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	899/1029	1427473	1,13005	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427473A>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2696A>G	3.37:g.1427473A>G	ENSP00000407822:p.Lys899Arg					CNTN6_uc011asj.2_Missense_Mutation_p.K827R|CNTN6_uc003bpa.3_Missense_Mutation_p.K899R	p.K899R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	2963	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	899					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2696A>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047682	0.36085	0.0	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.54071	0.59;0.59;0.59	5.75	5.75	0.90469	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.45518	0.1346	M	0.64170	1.965	0.49213	D	0.999769	B	0.09022	0.002	B	0.11329	0.006	T	0.37731	-0.9693	10	0.13470	T	0.59	.	8.4454	0.32838	0.8555:0.0:0.1445:0.0	.	899	Q9UQ52	CNTN6_HUMAN	R	899;827;899	ENSP00000407822:K899R;ENSP00000442791:K827R;ENSP00000341882:K899R	ENSP00000341882:K899R	K	+	2	0	CNTN6	1402473	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	4.151000	0.58105	2.188000	0.69820	0.528000	0.53228	AAA		0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		G	1427473	A	G	1427473	3	3	71	1	0	0	0	0	1	0	0	0	3645	14	1	4	2770	4	CNTN6	3	1427473	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		1427473	196594957	9	4682											
CCR5	1234	broad.mit.edu	37	chr3	46414783	46414783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgataggtacctggctgtCgtccatgctgtgtttgcttt	5	16	11	9	2	0	0	0	0	0	0	3	1	1	0	2	2	3	5	2	2	2	4	rs559783442	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:46414783C>T	ENST00000292303.4	+	2	536	c.390C>T	c.(388-390)gtC>gtT	p.V130V	CCR5_ENST00000445772.1_Silent_p.V130V|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Silent_p.V130V	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	130					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGGCTGTCGTCCATGCTG	0.478													C|||	4	0.000798722	0	0	5008	,	,		19430	0		0	False		,,,				2504	0.0041					uc003cpo.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(388-390)gtC>gtT		Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	Maraviroc(DB04835)						166	170	169					3																	46414783		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414783C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.390C>T	3.37:g.46414783C>T						CCR5_uc010hjd.3_Silent_p.V130V|CCR5_uc021wxb.1_Silent_p.V130V	p.V130V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	512	+			130					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.390C>T	CCDS2739.1																																																																																				0.478	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		T	46414783	C	T	46414783	2	4	71	1	0	0	0	0	0	0	0	1	2944	871	31	2		2	CCR5	3	46414783	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	44987310	46414783	151607647	10	4683											
STAB1	23166	broad.mit.edu	37	chr3	52543899	52543899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catacagactgcggctgtgtCcatggtctctgcgacaaccg	8	9	11	13	3	1	1	0	0	1	1	3	2	2	1	2	2	4	1	2	2	2	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:52543899C>T	ENST00000321725.6	+	23	2437	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	787					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGCTGTGTCCATGGTCTCT	0.632																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2359-2361)gtC>gtT		Homo sapiens stabilin 1 (STAB1), mRNA.							30	31	31					3																	52543899		2201	4289	6490	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52543899C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2361C>T	3.37:g.52543899C>T							p.V787V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	22	2435	+			787					A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2361C>T	CCDS33768.1																																																																																				0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52543899	C	T	52543899	2	4	71	1	0	0	0	0	0	0	0	1	15236	842	30	3		3	STAB1	3	52543899	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	6129116	52543899	145478531	11	4684											
KDR	3791	broad.mit.edu	37	chr4	55984940	55984940	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccactctgattattgggCcaaagccagtccaagtccct	9	10	8	14	0	1	1	0	1	1	0	3	1	3	1	5	1	2	0	5	1	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:55984940C>T	ENST00000263923.4	-	3	484	c.189G>A	c.(187-189)tgG>tgA	p.W63*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	63	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATTATTGGGCCAAAGCCAGT	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(187-189)tgG>tgA		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						98	98	98					4																	55984940		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984940C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.189G>A	4.37:g.55984940C>T	ENSP00000263923:p.Trp63*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.2_Nonsense_Mutation_p.W63*	p.W63*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	491	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		63			Ig-like C2-type 1.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.189G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	39	7.656704	0.98415	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.63	5.63	0.86233	.	0.127352	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000263923:W63X	W	-	3	0	KDR	55679697	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.324000	0.59228	2.814000	0.96858	0.655000	0.94253	TGG		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55984940	C	T	55984940	4	4	71	1	0	0	0	0	0	1	0	0	8139	740	26	3	3993	3	KDR	4	55984940	Nonsense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		55984940	135169336	12	4685											
HELT	391723	broad.mit.edu	37	chr4	185941817	185941817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagcgcagcagcacagccCcttcctgacaccggtgcagg	8	4	11	18	2	0	1	0	1	0	0	1	1	1	1	5	2	5	4	5	2	0	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:185941817C>T	ENST00000515777.1	+	4	708	c.620C>T	c.(619-621)cCc>cTc	p.P207L	HELT_ENST00000338875.4_Missense_Mutation_p.P292L|HELT_ENST00000505610.1_Missense_Mutation_p.P206L			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	207	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCACAGCCCCTTCCTGACA	0.736																																						uc011ckq.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14						c.(874-876)cCc>cTc		Homo sapiens helt bHLH transcription factor (HELT), mRNA.							20	22	21					4																	185941817		2201	4295	6496	SO:0001583	missense	391723						DNA binding	g.chr4:185941817C>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.620C>T	4.37:g.185941817C>T	ENSP00000426033:p.Pro207Leu					HELT_uc011cko.2_Missense_Mutation_p.P207L|HELT_uc003ixa.3_Missense_Mutation_p.P206L|HELT_uc011ckp.1_Missense_Mutation_p.P150L	p.P292L	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	875	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	292			Pro-rich.		B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.875C>T		.	.	.	.	.	.	.	.	.	.	C	13.48	2.250178	0.39797	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.65916	-0.18;-0.17;1.78	4.96	4.96	0.65561	.	0.377707	0.27640	N	0.018472	T	0.48696	0.1514	N	0.24115	0.695	0.41396	D	0.987646	B;B;B	0.29716	0.255;0.012;0.02	B;B;B	0.24974	0.057;0.015;0.034	T	0.54497	-0.8285	10	0.72032	D	0.01	.	14.7034	0.69171	0.1454:0.8546:0.0:0.0	.	292;207;206	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	L	206;207;292	ENSP00000422140:P206L;ENSP00000426033:P207L;ENSP00000343464:P292L	ENSP00000343464:P292L	P	+	2	0	HELT	186178811	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	4.541000	0.60670	2.295000	0.77249	0.561000	0.74099	CCC		0.736	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		T	185941817	C	T	185941817	3	4	71	1	0	0	0	0	1	0	0	0	7048	623	22	3	889	3	HELT	4	185941817	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	129956877	185941817	5212459	13	4686											
KDM1B	221656	broad.mit.edu	37	chr6	18213891	18213891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgctcactttgcagattgCcttgcaatttccgtatagat	8	16	7	10	1	2	2	1	0	1	2	3	2	3	2	2	0	4	4	2	0	3	6			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:18213891C>A	ENST00000297792.5	+	15	1469	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	KDM1B_ENST00000388870.2_Missense_Mutation_p.A664D|KDM1B_ENST00000397244.1_Missense_Mutation_p.A432D|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	663					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTGCAGATTGCCTTGCAATTT	0.463																																						uc003nco.1																			0		p.G460W(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1378-1380)gCc>gAc		Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.							257	253	254					6																	18213891		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18213891C>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1292C>A	6.37:g.18213891C>A	ENSP00000297792:p.Ala431Asp					KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D	p.A460D	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			11	1454	+			663					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1379C>A	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.843776|3.843776	0.71488|0.71488	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.92752|.	-3.1;-3.1;-3.1|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Amine oxidase (1);|.	0.050449|.	0.85682|.	D|.	0.000000|.	T|T	0.82176|0.82176	0.4980|0.4980	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	P;D;D|.	0.60575|.	0.91;0.988;0.979|.	P;D;P|.	0.63033|.	0.689;0.91;0.76|.	T|T	0.82857|0.82857	-0.0250|-0.0250	10|5	0.49607|.	T|.	0.09|.	-9.8204|-9.8204	20.2618|20.2618	0.98447|0.98447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	480;663;431|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	D|T	664;432;431;663|481	ENSP00000373522:A664D;ENSP00000380419:A432D;ENSP00000297792:A431D|.	ENSP00000297792:A431D|.	A|P	+|+	2|1	0|0	KDM1B|KDM1B	18321870|18321870	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	3.887000|3.887000	0.56197|0.56197	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.463	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		A	18213891	C	A	18213891	3	1	71	1	0	0	0	0	1	0	0	0	8123	739	26	5	1342	5	KDM1B	6	18213891	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		18213891	152901176	14	4687											
VPS52	6293	broad.mit.edu	37	chr6	33232605	33232605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaatgttacggaaccGgagaacaatgtggatacaga	14	8	12	7	2	0	2	0	0	0	2	0	5	0	4	1	3	6	3	1	3	6	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:33232605G>A	ENST00000445902.2	-	13	1572	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R327W|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	452					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTACGGAACCGGAGAACAATG	0.483																																						uc003odm.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1354-1356)Cgg>Tgg		Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.							290	266	275					6																	33232605		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232605G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1354C>T	6.37:g.33232605G>A	ENSP00000409952:p.Arg452Trp					VPS52_uc003odn.1_Missense_Mutation_p.R263W	p.R452W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			12	1564	-			452					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1354C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483625	0.84854	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.2	5.2	0.72013	.	0.059480	0.64402	D	0.000002	T	0.55545	0.1927	M	0.78637	2.42	0.80722	D	1	P;P	0.51537	0.946;0.621	P;B	0.48166	0.569;0.179	T	0.61806	-0.6987	9	0.54805	T	0.06	-10.8434	11.4985	0.50424	0.0:0.0:0.8211:0.1789	.	263;452	B3KMF7;Q8N1B4	.;VPS52_HUMAN	W	452;430;327	.	ENSP00000414785:R430W	R	-	1	2	VPS52	33340583	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	3.178000	0.50879	2.875000	0.98604	0.643000	0.83706	CGG		0.483	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		A	33232605	G	A	33232605	3	1	71	1	0	0	0	0	1	0	0	0	17211	1115	39	2	849	2	VPS52	6	33232605	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	15018714	33232605	137882462	15	4688											
TFAP2B	7021	broad.mit.edu	37	chr6	50810943	50810943	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcacgcacggcttcggcgcCccggccatttgcgccgcgct	4	7	12	18	8	1	0	1	0	0	0	2	0	1	0	4	3	1	3	4	3	0	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:50810943C>A	ENST00000393655.3	+	7	1390	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A	TFAP2B_ENST00000263046.4_Silent_p.A416A	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	407				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCTTCGGCGCCCCGGCCATTT	0.627																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1219-1221)gcC>gcA		Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.							55	59	57					6																	50810943		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810943C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1221C>A	6.37:g.50810943C>A							p.A407A	NM_003221	NP_003212	Q92481	AP2B_HUMAN			6	1387	+	Lung NSC(77;0.156)		407	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1221C>A	CCDS4934.2																																																																																				0.627	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		A	50810943	C	A	50810943	2	1	71	1	0	0	0	0	0	0	0	1	15785	610	22	5		5	TFAP2B	6	50810943	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	17578338	50810943	120304124	16	4689											
TRIP6	7205	broad.mit.edu	37	chr7	100466151	100466151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctcctgcctaccgcaCgggctccctgaagccaaatc	8	6	8	19	2	0	1	0	1	0	0	3	1	2	1	7	1	3	2	7	1	3	1	rs541670413	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:100466151C>T	ENST00000200457.4	+	4	758	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	133					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTACCGCACGGGCTCCCTG	0.637													C|||	3	0.000599042	0	0	5008	,	,		15429	0		0	False		,,,				2504	0.0031					uc003uww.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(397-399)aCg>aTg		Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.							51	58	56					7																	100466151		2138	4193	6331	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466151C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.398C>T	7.37:g.100466151C>T	ENSP00000200457:p.Thr133Met					TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Missense_Mutation_p.T112M|TRIP6_uc022ait.1_Intron|TRIP6_uc022aiu.1_5'UTR	p.T133M	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			3	568	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		133					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.398C>T	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	3.411	-0.120127	0.06838	.	.	ENSG00000087077	ENST00000200457	T	0.59083	0.29	4.44	0.273	0.15650	.	11.943800	0.00166	N	0.000002	T	0.37128	0.0992	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.26916	-1.0089	10	0.51188	T	0.08	.	4.3356	0.11085	0.0:0.5293:0.1666:0.3041	.	133	Q15654	TRIP6_HUMAN	M	133	ENSP00000200457:T133M	ENSP00000200457:T133M	T	+	2	0	TRIP6	100304087	0.000000	0.05858	0.002000	0.10522	0.060000	0.15804	0.073000	0.14640	-0.007000	0.14345	-0.379000	0.06801	ACG		0.637	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		T	100466151	C	T	100466151	3	4	71	1	0	0	0	0	1	0	0	0	16556	536	19	1	412	1	TRIP6	7	100466151	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		100466151	58672512	17	4690											
GRM8	2918	broad.mit.edu	37	chr7	126086220	126086220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttcacttttcacctcGccatttggtctgtcatttcc	6	16	6	13	1	4	1	3	0	1	1	6	1	5	1	3	1	0	1	3	1	0	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:126086220G>A	ENST00000339582.2	-	10	3445	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	GRM8_ENST00000358373.3_Silent_p.G879G|GRM8_ENST00000444921.2_Silent_p.G879G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	879					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTTCACCTCGCCATTTGGTC	0.453										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2635-2637)ggC>ggT		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						209	189	196					7																	126086220		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086220G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2637C>T	7.37:g.126086220G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_Non-coding_Transcript	p.G879G	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2948	-		Prostate(267;0.186)	879					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2637C>T	CCDS5794.1																																																																																				0.453	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126086220	G	A	126086220	2	1	71	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126086220	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08	25620069	126086220	33052443	18	4691											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732071	37732071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggggagccctcggagaGgaaattggaggtctcggttc	7	9	17	8	2	2	1	0	0	2	1	5	5	2	4	1	7	1	1	1	7	1	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr8:37732071G>A	ENST00000330843.4	-	3	1596	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	RAB11FIP1_ENST00000522727.1_Silent_p.S380S|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000524118.1_Silent_p.S380S|RAB11FIP1_ENST00000287263.4_Silent_p.S528S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	528					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCTCGGAGAGGAAATTGGAG	0.547																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1582-1584)tcC>tcT		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.							67	66	66					8																	37732071		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732071G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1584C>T	8.37:g.37732071G>A						RAB11FIP1_uc003xkn.2_Silent_p.S528S|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.S376S	p.S528S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	1640	-		Lung NSC(58;0.118)|all_lung(54;0.195)	528					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1584C>T	CCDS34882.1																																																																																				0.547	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		A	37732071	G	A	37732071	2	1	71	1	0	0	0	0	0	0	0	1	12893	987	35	3		3	RAB11FIP1	8	37732071	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08		37732071	108631951	19	4692											
ARMC3	219681	broad.mit.edu	37	chr10	23297794	23297794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatctcccatagaagacaAatcagagccagcttctggac	13	8	9	11	0	3	3	1	0	2	3	4	5	3	5	2	2	2	1	2	2	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:23297794A>G	ENST00000298032.5	+	16	2063	c.1979A>G	c.(1978-1980)aAa>aGa	p.K660R	ARMC3_ENST00000409049.3_Missense_Mutation_p.K660R|ARMC3_ENST00000409983.3_Missense_Mutation_p.K653R|ARMC3_ENST00000376528.4_Missense_Mutation_p.K397R	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	660						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAGAAGACAAATCAGAGCCA	0.383																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1978-1980)aAa>aGa		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							60	57	58					10																	23297794		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23297794A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1979A>G	10.37:g.23297794A>G	ENSP00000298032:p.Lys660Arg					ARMC3_uc010qcv.2_Missense_Mutation_p.K653R|ARMC3_uc010qcw.2_Missense_Mutation_p.K397R	p.K660R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			15	2062	+			660					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1979A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	a	15.03	2.711639	0.48517	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	T;T;T;T	0.45276	0.94;1.05;0.9;2.15	5.51	4.38	0.52667	.	0.461817	0.23155	N	0.051307	T	0.50463	0.1617	L	0.36672	1.1	0.42109	D	0.991377	D;D	0.69078	0.995;0.997	P;D	0.75020	0.889;0.985	T	0.44742	-0.9308	10	0.42905	T	0.14	-0.465	9.7154	0.40272	0.9205:0.0:0.0795:0.0	.	653;660	Q5W041-4;Q5W041	.;ARMC3_HUMAN	R	660;653;660;397	ENSP00000298032:K660R;ENSP00000386943:K653R;ENSP00000387288:K660R;ENSP00000365711:K397R	ENSP00000298032:K660R	K	+	2	0	ARMC3	23337800	0.983000	0.35010	0.679000	0.29978	0.570000	0.35934	2.746000	0.47467	0.929000	0.37192	0.367000	0.22151	AAA		0.383	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		G	23297794	A	G	23297794	3	3	71	1	0	0	0	0	1	0	0	0	952	14	1	4	2037	4	ARMC3	10	23297794	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		23297794	112236953	20	4693											
PTEN	5728	broad.mit.edu	37	chr10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactattcccagtcagaggcGctatgtgtattattatagct	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	3	1	1	7	7	rs121913294		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:89711900G>A	ENST00000371953.3	+	6	1875	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173H(23)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R173P(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R173H(RL952_ENDOMETRIUM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		80	Whole gene deletion(37)|Substitution - Missense(24)|Deletion - Frameshift(11)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)	central_nervous_system(32)|prostate(17)|skin(8)|endometrium(5)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|testis(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074465	PTEN	M	rs121913294	c.(517-519)cGc>cAc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							129	132	131					10																	89711900		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711900G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.518G>A	10.37:g.89711900G>A	ENSP00000361021:p.Arg173His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R173H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1550	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.518G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478054	0.96291	.	.	ENSG00000171862	ENST00000371953	D	0.98889	-5.21	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99162	0.9710	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.99533	1.0961	9	.	.	.	0.9169	19.9308	0.97118	0.0:0.0:1.0:0.0	.	173	P60484	PTEN_HUMAN	H	173	ENSP00000361021:R173H	.	R	+	2	0	PTEN	89701880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89711900	G	A	89711900	3	1	71	1	0	0	0	0	1	0	0	0	12738	1087	38	1	540	1	PTEN	10	89711900	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	66414106	89711900	45822847	21	4694											
ST5	6764	broad.mit.edu	37	chr11	8752166	8752166	+	Frame_Shift_Del	DEL	C	C	-																															tcctgctcatcctccggaggCccttgaaatcaaaggtcttt																										TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:8752166delC	ENST00000534127.1	-	6	1056	c.671delG	c.(670-672)ggcfs	p.G224fs	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Frame_Shift_Del_p.G224fs|ST5_ENST00000313726.6_Frame_Shift_Del_p.G224fs|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	224					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTCCGGAGGCCCTTGAAATC	0.642																																						uc001mgt.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(670-672)ggcfs		Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.							21	24	23					11																	8752166		2196	4292	6488	SO:0001589	frameshift_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752166delC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.671delG	11.37:g.8752166delC	ENSP00000433528:p.Gly224fs					ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs	p.G224fs	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	2	857	-			224					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Frame_Shift_Del	DEL	ENST00000534127.1	37	c.671delG	CCDS7791.1																																																																																				0.642	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		-	8752166	C	-	8752166	7	5	71	1	0	1	0	1	0	0	0	0	15219	739	26	0	2814	0	ST5	11	8752166	Frame_Shift_Del	DEL	C	TCGA-06-0882-01A-01W-0424-08		8752166	126254350	22	4695											
OR8J3	81168	broad.mit.edu	37	chr11	55904404	55904404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtatccagtgagtggttgGtttggggctgcaaatacata	10	12	13	6	0	0	1	0	1	0	0	1	1	1	1	1	4	2	5	1	4	4	5	rs143365733	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:55904404G>C	ENST00000301529.1	-	1	790	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGAGTGGTTGGTTTGGGGCTG	0.428																																						uc010riz.2																			0		p.Q263L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(790-792)aCc>aGc		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.							136	133	134					11																	55904404		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904404G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.791C>G	11.37:g.55904404G>C	ENSP00000301529:p.Thr264Ser						p.T264S	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	791	-	Esophageal squamous(21;0.00693)		264					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.791C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.647484	0.00111	.	.	ENSG00000167822	ENST00000301529	T	0.00018	9.08	3.27	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.804728	0.11386	N	0.569305	T	0.00039	0.0001	N	0.00079	-2.23	0.09310	N	1	B	0.06786	0.001	B	0.20955	0.032	T	0.18555	-1.0333	10	0.02654	T	1	.	11.1359	0.48375	0.0:0.3613:0.6387:0.0	.	264	Q8NGG0	OR8J3_HUMAN	S	264	ENSP00000301529:T264S	ENSP00000301529:T264S	T	-	2	0	OR8J3	55660980	0.001000	0.12720	0.046000	0.18839	0.253000	0.25986	0.997000	0.29731	0.476000	0.27440	0.297000	0.19635	ACC		0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		C	55904404	G	C	55904404	3	2	71	1	0	0	0	0	1	0	0	0	11242	1261	44	5	158	5	OR8J3	11	55904404	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	47152238	55904404	79102112	23	4696											
SLC22A20	823	broad.mit.edu	37	chr11	64981482	64981482	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaacttcacggccgctgtcCccccccaccactgccggggc	6	5	10	20	3	1	1	1	0	0	1	2	1	2	1	7	3	2	1	7	3	1	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:64981482C>A	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGCCGCTGTCCCCCCCCACCA	0.692																																						uc021qlg.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						c.(139-141)Ccc>Acc		Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.							10	15	13					11																	64981482		1934	4121	6055	SO:0001628	intergenic_variant	440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981482C>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981482C>A						SLC22A20_uc021qlh.1_5'UTR	p.P47T	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			0	172	+			45					Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.139C>A	CCDS44644.1																																																																																				0.692	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			A	64981482	C	A	64981482	1	1	71	0	1	0	0	0	0	0	0	0	14451	623	22	5		5	SLC22A20	11	64981482	IGR	SNP	C	TCGA-06-0882-01A-01W-0424-08	9077078	64981482	70025034	24	4697											
TIGD3	220359	broad.mit.edu	37	chr11	65124539	65124539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagacgagaagggggaCagagagggtgcctttgagcc	12	5	17	7	1	0	5	0	2	0	3	0	8	0	6	2	3	2	0	2	3	2	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:65124539C>G	ENST00000309880.5	+	2	1467	c.1260C>G	c.(1258-1260)gaC>gaG	p.D420E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	420						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGAAGGGGGACAGAGAGGGTG	0.587																																						uc021qlj.1																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(1258-1260)gaC>gaG		Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.							106	99	101					11																	65124539		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124539C>G		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1260C>G	11.37:g.65124539C>G	ENSP00000308354:p.Asp420Glu					TIGD3_uc001odo.4_Missense_Mutation_p.D420E	p.D420E	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			0	1260	+			420						Missense_Mutation	SNP	ENST00000309880.5	37	c.1260C>G	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.228478	0.00280	.	.	ENSG00000173825	ENST00000309880	T	0.17054	2.3	3.46	-4.32	0.03688	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42189	-0.9466	9	0.09843	T	0.71	8.1597	5.4377	0.16490	0.0:0.3358:0.149:0.5151	.	420	Q6B0B8	TIGD3_HUMAN	E	420	ENSP00000308354:D420E	ENSP00000308354:D420E	D	+	3	2	TIGD3	64881115	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.676000	0.01946	-1.151000	0.02836	-0.518000	0.04402	GAC		0.587	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		G	65124539	C	G	65124539	3	3	71	1	0	0	0	0	1	0	0	0	15894	477	17	5	1262	5	TIGD3	11	65124539	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	143057	65124539	69881977	25	4698											
ITGB7	3695	broad.mit.edu	37	chr12	53590514	53590514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgaatggtgactggcagCgctccagccgggtggggcag	7	6	18	10	2	0	2	0	2	0	0	1	2	1	2	2	5	3	4	2	5	1	0			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr12:53590514C>T	ENST00000267082.5	-	6	896	c.665G>A	c.(664-666)cGc>cAc	p.R222H	ITGB7_ENST00000338737.4_Missense_Mutation_p.R222H|ITGB7_ENST00000422257.3_Missense_Mutation_p.R222H|ITGB7_ENST00000550743.2_Missense_Mutation_p.R222H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	222	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGACTGGCAGCGCTCCAGCCG	0.622																																						uc009zmv.3																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(664-666)cGc>cAc		Homo sapiens integrin, beta 7 (ITGB7), mRNA.							46	43	44					12																	53590514		2203	4299	6502	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53590514C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.665G>A	12.37:g.53590514C>T	ENSP00000267082:p.Arg222His					ITGB7_uc001scc.3_Missense_Mutation_p.R222H|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	p.R222H	NM_000889	NP_000880	P26010	ITB7_HUMAN			4	736	-			222			VWFA.		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.665G>A	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722246	0.68959	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.05	0.267	0.15622	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.727821	0.11364	N	0.571582	D	0.87470	0.6185	L	0.43152	1.355	0.27730	N	0.944826	P	0.44344	0.833	B	0.42112	0.376	T	0.78889	-0.2026	10	0.48119	T	0.1	.	7.3084	0.26461	0.0:0.3515:0.4928:0.1557	.	222	P26010	ITB7_HUMAN	H	222	ENSP00000408741:R222H;ENSP00000267082:R222H;ENSP00000345501:R222H;ENSP00000437375:R222H	ENSP00000267082:R222H	R	-	2	0	ITGB7	51876781	0.156000	0.22821	0.999000	0.59377	0.977000	0.68977	0.254000	0.18314	0.209000	0.20645	0.555000	0.69702	CGC		0.622	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			T	53590514	C	T	53590514	3	4	71	1	0	0	0	0	1	0	0	0	7900	768	27	1	1775	1	ITGB7	12	53590514	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		53590514	80261381	26	4699											
LHFP	10186	broad.mit.edu	37	chr13	40175282	40175282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggcataaagaaccccacGcaggaggtggcagcacaaag	16	3	12	10	1	0	1	0	0	0	1	0	2	0	2	2	4	2	4	2	4	5	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr13:40175282G>A	ENST00000379589.3	-	2	534	c.72C>T	c.(70-72)tgC>tgT	p.C24C	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	24						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGAACCCCACGCAGGAGGTGG	0.537			T	HMGA2	lipoma																																	uc001uxf.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(70-72)tgC>tgT		Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.							86	81	82					13																	40175282		2203	4300	6503	SO:0001819	synonymous_variant	10186					integral to membrane	DNA binding	g.chr13:40175282G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.72C>T	13.37:g.40175282G>A							p.C24C	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	1	583	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	24					B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	c.72C>T	CCDS9369.1																																																																																				0.537	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		A	40175282	G	A	40175282	2	1	71	1	0	0	0	0	0	0	0	1	8763	1079	38	1		1	LHFP	13	40175282	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08		40175282	74994596	27	4700											
C14orf182	283551	broad.mit.edu	37	chr14	50472507	50472507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttccagggttgccatcCgacctgtcatttggtctgtg	5	15	10	11	1	2	0	1	0	1	0	4	1	4	0	4	2	1	1	4	2	0	4			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:50472507C>T	ENST00000399206.1	-	1	1731	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	4										large_intestine(2)|urinary_tract(1)	3						GGTTGCCATCCGACCTGTCAT	0.507																																						uc001wxi.1																			0				large_intestine(2)|urinary_tract(1)	3						c.(10-12)cGg>cAg		Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.							196	194	195					14																	50472507		1962	4148	6110	SO:0001583	missense	283551							g.chr14:50472507C>T	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.11G>A	14.37:g.50472507C>T	ENSP00000382157:p.Arg4Gln						p.R4Q	NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN			0	1732	-			4					A8MYX4	Missense_Mutation	SNP	ENST00000399206.1	37	c.11G>A	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746397	0.15710	.	.	ENSG00000214900	ENST00000399206	T	0.59502	0.26	3.58	-7.17	0.01511	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.09310	N	1	B	0.23058	0.079	B	0.17098	0.017	T	0.16689	-1.0394	8	0.32370	T	0.25	.	6.0971	0.20027	0.2749:0.3825:0.3426:0.0	.	4	A1A4T8-2	.	Q	4	ENSP00000382157:R4Q	ENSP00000382157:R4Q	R	-	2	0	C14orf182	49542257	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.386000	0.07370	-1.428000	0.01989	-1.405000	0.01134	CGG		0.507	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706		T	50472507	C	T	50472507	3	4	71	1	0	0	0	0	1	0	0	0	1765	652	23	2	324	2	C14orf182	14	50472507	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		50472507	56877033	28	4701											
TDRD9	122402	broad.mit.edu	37	chr14	104493271	104493271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggaggagtcctacgagTccaaggtgtgtgctttcgcc	7	10	13	11	3	1	0	1	0	0	0	4	3	3	2	3	3	2	1	3	3	2	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:104493271T>C	ENST00000409874.4	+	28	3325	c.3277T>C	c.(3277-3279)Tcc>Ccc	p.S1093P	TDRD9_ENST00000339063.5_Missense_Mutation_p.S1093P	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1093					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCCTACGAGTCCAAGGTGTG	0.582																																						uc001yom.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(3277-3279)Tcc>Ccc		Homo sapiens tudor domain containing 9 (TDRD9), mRNA.							75	57	63					14																	104493271		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104493271T>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3277T>C	14.37:g.104493271T>C	ENSP00000387303:p.Ser1093Pro					TDRD9_uc001yon.4_Missense_Mutation_p.S831P	p.S1093P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			27	3307	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	1093					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.3277T>C	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.63|16.63	3.176738|3.176738	0.57692|0.57692	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.04917|.	3.53;3.72|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.56097|.	D|.	0.000021|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.78897|0.78897	-0.2023|-0.2023	10|5	0.87932|.	D|.	0|.	.|.	15.4208|15.4208	0.75009|0.75009	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1093;1093|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	P|A	1093|819	ENSP00000387303:S1093P;ENSP00000343545:S1093P|.	ENSP00000343545:S1093P|.	S|V	+|+	1|2	0|0	TDRD9|TDRD9	103563024|103563024	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.081000|0.081000	0.17604|0.17604	6.215000|6.215000	0.72206|0.72206	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	TCC|GTC		0.582	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		C	104493271	T	C	104493271	3	2	71	1	0	0	0	0	1	0	0	0	15733	1667	58	4	3387	4	TDRD9	14	104493271	Missense_Mutation	SNP	T	TCGA-06-0882-01A-01W-0424-08	54020764	104493271	2856269	29	4702											
PLCB2	5330	broad.mit.edu	37	chr15	40596215	40596215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccttactttgatacGtccagtataagtagtagccc	10	14	6	11	1	1	1	1	1	1	0	3	1	2	1	3	0	3	3	3	0	6	8			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:40596215G>A	ENST00000260402.3	-	2	398	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T50M|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.T50M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T50M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	50					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTTTGATACGTCCAGTATAA	0.527																																						uc001zld.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(148-150)aCg>aTg		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.							82	86	85					15																	40596215		2020	4166	6186	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40596215G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.149C>T	15.37:g.40596215G>A	ENSP00000260402:p.Thr50Met					PLCB2_uc010bbo.3_Missense_Mutation_p.T50M|PLCB2_uc010ucm.2_Missense_Mutation_p.T50M|PLCB2_uc001zle.4_Missense_Mutation_p.T50M	p.T50M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	1	450	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	50					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.149C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841379	0.51057	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.46819	0.86;0.86;0.86	4.43	4.43	0.53597	.	0.297680	0.19776	U	0.106330	T	0.43875	0.1267	L	0.33792	1.035	0.38498	D	0.948141	D;D;D;P	0.59767	0.961;0.977;0.986;0.941	P;P;B;P	0.46362	0.464;0.474;0.443;0.514	T	0.51450	-0.8704	10	0.49607	T	0.09	.	15.9676	0.79985	0.0:0.0:1.0:0.0	.	50;50;50;50	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	M	50	ENSP00000260402:T50M;ENSP00000411991:T50M;ENSP00000444652:T50M	ENSP00000260402:T50M	T	-	2	0	PLCB2	38383507	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	4.918000	0.63376	2.164000	0.68074	0.655000	0.94253	ACG		0.527	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			A	40596215	G	A	40596215	3	1	71	1	0	0	0	0	1	0	0	0	12028	1145	40	1	3532	1	PLCB2	15	40596215	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		40596215	61935177	30	4703											
RPAP1	26015	broad.mit.edu	37	chr15	41810014	41810014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatctgccagcagccaTgttttctgcagcatactcct	8	12	6	15	0	3	0	1	0	2	0	4	0	4	0	4	0	6	4	4	0	1	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:41810014T>C	ENST00000304330.4	-	24	4130	c.4014A>G	c.(4012-4014)acA>acG	p.T1338T	RPAP1_ENST00000561603.1_Missense_Mutation_p.H1086R	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1338						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGCAGCCATGTTTTCTGCA	0.562																																						uc001zod.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(4012-4014)acA>acG		Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.							243	242	242					15																	41810014		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41810014T>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.4014A>G	15.37:g.41810014T>C							p.T1338T	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	23	4138	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1338					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.4014A>G	CCDS10079.1																																																																																				0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		C	41810014	T	C	41810014	2	2	71	1	0	0	0	0	0	0	0	1	13541	1451	51	4		4	RPAP1	15	41810014	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	1213799	41810014	60721378	31	4704											
ABCC1	4363	broad.mit.edu	37	chr16	16225756	16225756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacctggacttcgttctCaggcacatcaatgtcacgat	10	10	10	11	2	3	0	3	0	1	0	5	4	3	2	1	3	0	2	1	3	1	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:16225756C>T	ENST00000399410.3	+	27	4105	c.3930C>T	c.(3928-3930)ctC>ctT	p.L1310L	ABCC1_ENST00000399408.2_Silent_p.L1320L|ABCC1_ENST00000349029.5_Silent_p.L1195L|ABCC1_ENST00000351154.5_Silent_p.L1251L|ABCC1_ENST00000346370.5_Silent_p.L1254L|ABCC1_ENST00000345148.5_Silent_p.L1310L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1310	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACTTCGTTCTCAGGCACATCA	0.607																																						uc010bvi.3																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3928-3930)ctC>ctT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						76	75	75					16																	16225756		2055	4213	6268	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16225756C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3930C>T	16.37:g.16225756C>T						ABCC1_uc010bvj.3_Silent_p.L1251L|ABCC1_uc010bvk.3_Silent_p.L1254L|ABCC1_uc010bvl.3_Silent_p.L1310L|ABCC1_uc010bvm.3_Silent_p.L1195L|ABCC1_uc002del.4_Silent_p.L1204L|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.S200L	p.L1310L	NM_004996	NP_004987	P33527	MRP1_HUMAN			26	4105	+			1310			ABC transporter 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3930C>T	CCDS42122.1																																																																																				0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16225756	C	T	16225756	2	4	71	1	0	0	0	0	0	0	0	1	49	813	29	3		3	ABCC1	16	16225756	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		16225756	74128997	32	4705											
RLTPR	146206	broad.mit.edu	37	chr16	67683169	67683169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacagggagaccctggaCgacgtcctgcaccggattgt	8	6	13	14	3	0	1	0	0	0	1	1	5	1	3	4	3	1	1	4	3	0	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:67683169C>T	ENST00000334583.6	+	19	2029	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	RLTPR_ENST00000545661.1_Silent_p.D531D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	567					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGACCCTGGACGACGTCCTGC	0.637																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1699-1701)gaC>gaT		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							53	60	58					16																	67683169		2013	4154	6167	SO:0001819	synonymous_variant	146206							g.chr16:67683169C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1701C>T	16.37:g.67683169C>T						RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.2_Silent_p.D531D	p.D567D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	18	1821	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	567					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1701C>T	CCDS45513.1																																																																																				0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67683169	C	T	67683169	2	4	71	1	0	0	0	0	0	0	0	1	13394	535	19	1		1	RLTPR	16	67683169	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	51457413	67683169	22671584	33	4706											
DRG2	1819	broad.mit.edu	37	chr17	18007951	18007951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagaggccagacttcAcagacgccatcattctccgg	10	7	10	14	2	3	3	2	0	1	3	4	4	3	3	3	2	1	1	3	2	0	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:18007951A>T	ENST00000225729.3	+	11	1048	c.910A>T	c.(910-912)Aca>Tca	p.T304S	DRG2_ENST00000583355.1_Missense_Mutation_p.H110L|DRG2_ENST00000395726.4_Missense_Mutation_p.T304S	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	304					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GCCAGACTTCACAGACGCCAT	0.607																																						uc002gsh.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(910-912)Aca>Tca		Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.							86	70	76					17																	18007951		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18007951A>T	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.910A>T	17.37:g.18007951A>T	ENSP00000225729:p.Thr304Ser						p.T304S	NM_001388	NP_001379	P55039	DRG2_HUMAN			10	965	+	all_neural(463;0.228)		304					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.910A>T	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	A	4.908	0.168694	0.09339	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.20881	2.04;2.04	5.76	3.39	0.38822	TGS-like (1);TGS (1);	0.355138	0.36034	N	0.002830	T	0.08268	0.0206	N	0.11756	0.17	0.23636	N	0.997235	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.41395	-0.9511	10	0.02654	T	1	-24.6118	5.6736	0.17735	0.4751:0.0:0.0708:0.4541	.	304;304	A8MZF9;P55039	.;DRG2_HUMAN	S	304	ENSP00000379076:T304S;ENSP00000225729:T304S	ENSP00000225729:T304S	T	+	1	0	DRG2	17948676	0.642000	0.27260	0.982000	0.44146	0.960000	0.62799	0.550000	0.23345	0.318000	0.23185	0.533000	0.62120	ACA		0.607	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		T	18007951	A	T	18007951	3	4	71	1	0	0	0	0	1	0	0	0	4762	159	6	5	952	5	DRG2	17	18007951	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		18007951	63187259	34	4707											
FAM18B	51030	broad.mit.edu	37	chr17	18708852	18708852	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttgtcttttgcAgaacactggagatgatcaga	9	19	8	5	0	2	4	1	1	1	3	2	5	2	4	0	1	2	1	0	1	1	7	rs2589696		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:18708852A>G	ENST00000307767.8	+	7	890		c.e7-1		TVP23B_ENST00000476139.1_Splice_Site|TVP23B_ENST00000581733.1_Splice_Site	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							integral component of membrane (GO:0016021)											TGTCTTTTGCAGAACACTGGA	0.368																																						uc002gum.2																			0				cervix(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	7						c.e7-2		Homo sapiens family with sequence similarity 18, member B1 (FAM18B1), mRNA.							113	100	104					17																	18708852		1849	4083	5932	SO:0001630	splice_region_variant	51030					integral to membrane		g.chr17:18708852A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.592-1A>G	17.37:g.18708852A>G							p.N198_splice	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN			7	617	+			198					A8K448|Q96HK5|Q9Y3E6	Splice_Site	SNP	ENST00000307767.8	37	c.592_splice	CCDS42274.1	19	0.0086996336996337	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	12	0.0158311345646438	A	3.616	-0.078582	0.07141	.	.	ENSG00000171928	ENST00000307767	.	.	.	2.57	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.602	0.12357	0.8326:0.0:0.1674:0.0	rs2589696	.	.	.	.	-1	.	.	.	+	.	.	FAM18B1	18649577	1.000000	0.71417	0.757000	0.31301	0.305000	0.27757	3.799000	0.55529	0.228000	0.21019	-1.211000	0.01629	.		0.368	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	Intron	G	18708852	A	G	18708852	5	3	71	1	0	0	0	0	0	0	1	0	5519	202	7	4	616	4	FAM18B	17	18708852	Splice_Site	SNP	A	TCGA-06-0882-01A-01W-0424-08	700901	18708852	62486358	35	4708											
SLFN12	55106	broad.mit.edu	37	chr17	33749828	33749828	+	Missense_Mutation	SNP	C	C	T																															ttccaaatctagtcctattcCatcttttgtataactatagt																										TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749828C>T	ENST00000394562.1	-	4	743	c.220G>A	c.(220-222)Gga>Aga	p.G74R	SLFN12_ENST00000304905.5_Missense_Mutation_p.G74R|SLFN12_ENST00000452764.3_Missense_Mutation_p.G74R|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	74							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCCTATTCCATCTTTTGTA	0.363																																						uc002hji.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(220-222)Gga>Aga		Homo sapiens schlafen family member 12 (SLFN12), mRNA.							99	97	98					17																	33749828		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749828C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.220G>A	17.37:g.33749828C>T	ENSP00000378063:p.Gly74Arg					SLFN12_uc002hjj.4_Missense_Mutation_p.G74R|SLFN12_uc010cts.3_Missense_Mutation_p.G74R	p.G74R	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	597	-		Ovarian(249;0.17)	74					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.220G>A	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.446396	0.43429	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.26957	3.54;3.54;3.54;1.7	3.12	2.12	0.27331	.	.	.	.	.	T	0.29850	0.0746	M	0.71036	2.16	0.09310	N	1	P	0.49783	0.928	P	0.46110	0.504	T	0.12218	-1.0556	9	0.44086	T	0.13	.	6.0489	0.19775	0.0:0.8462:0.0:0.1538	.	74	Q8IYM2	SLN12_HUMAN	R	74	ENSP00000378063:G74R;ENSP00000302077:G74R;ENSP00000394903:G74R;ENSP00000398315:G74R	ENSP00000302077:G74R	G	-	1	0	SLFN12	30773941	0.386000	0.25180	0.005000	0.12908	0.193000	0.23685	1.870000	0.39529	0.625000	0.30304	0.436000	0.28706	GGA		0.363	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		T	33749828	C	T	33749828	3	4	71	1	0	0	0	0	1	0	0	0	14734	603	21	3	1528	3	SLFN12	17	33749828	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	15040976	33749828	47445382	36	4709	7	2									
SLFN12	55106	broad.mit.edu	37	chr17	33749831	33749831	+	Missense_Mutation	SNP	C	C	T																															caaatctagtcctattccatCttttgtataactatagtctt																								rs199661197		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749831C>T	ENST00000394562.1	-	4	740	c.217G>A	c.(217-219)Gat>Aat	p.D73N	SLFN12_ENST00000304905.5_Missense_Mutation_p.D73N|SLFN12_ENST00000452764.3_Missense_Mutation_p.D73N|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	73							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTATTCCATCTTTTGTATAA	0.368													C|||	1	0.000199681	0	0	5008	,	,		19835	0.001		0	False		,,,				2504	0					uc002hji.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(217-219)Gat>Aat		Homo sapiens schlafen family member 12 (SLFN12), mRNA.							100	98	99					17																	33749831		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749831C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.217G>A	17.37:g.33749831C>T	ENSP00000378063:p.Asp73Asn					SLFN12_uc002hjj.4_Missense_Mutation_p.D73N|SLFN12_uc010cts.3_Missense_Mutation_p.D73N	p.D73N	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	594	-		Ovarian(249;0.17)	73					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.217G>A	CCDS11295.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.42	2.529032	0.44969	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.24151	3.75;3.75;3.75;1.87	3.12	-0.807	0.10872	.	.	.	.	.	T	0.31734	0.0806	M	0.73962	2.25	0.09310	N	1	P	0.52842	0.956	P	0.49477	0.612	T	0.17440	-1.0369	9	0.37606	T	0.19	.	5.8134	0.18479	0.2045:0.4004:0.3952:0.0	.	73	Q8IYM2	SLN12_HUMAN	N	73	ENSP00000378063:D73N;ENSP00000302077:D73N;ENSP00000394903:D73N;ENSP00000398315:D73N	ENSP00000302077:D73N	D	-	1	0	SLFN12	30773944	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-3.309000	0.00517	-0.222000	0.09958	0.436000	0.28706	GAT		0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		T	33749831	C	T	33749831	3	4	71	1	0	0	0	0	1	0	0	0	14734	913	32	3	1531	3	SLFN12	17	33749831	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	3	33749831	47445379	37	4710	7	2									
LYZL6	57151	broad.mit.edu	37	chr17	34261842	34261842	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccagtagaagagtggccgGcctgaacagtgcaacctcca	12	5	12	12	1	0	3	0	1	0	2	1	3	1	3	5	2	4	2	5	2	4	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:34261842G>T	ENST00000585556.1	-	5	739	c.405C>A	c.(403-405)ggC>ggA	p.G135G	LYZL6_ENST00000394523.3_Silent_p.G135G|LYZL6_ENST00000492340.2_5'Flank|LYZL6_ENST00000293274.4_Silent_p.G135G			O75951	LYZL6_HUMAN	lysozyme-like 6	135					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGTGGCCGGCCTGAACAGT	0.537																																						uc002hkj.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(403-405)ggC>ggA		Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.							89	82	85					17																	34261842		2203	4300	6503	SO:0001819	synonymous_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34261842G>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.405C>A	17.37:g.34261842G>T						LYZL6_uc002hkk.2_Silent_p.G135G	p.G135G	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	605	-			135					Q6UW30	Silent	SNP	ENST00000585556.1	37	c.405C>A	CCDS11302.1																																																																																				0.537	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		T	34261842	G	T	34261842	2	4	71	1	0	0	0	0	0	0	0	1	9134	1190	42	5		5	LYZL6	17	34261842	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08	512011	34261842	46933368	38	4711											
HOXB9	3219	broad.mit.edu	37	chr17	46703491	46703491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctggaagctgcacgagggGaactccaggtgctccgcgtg	7	6	17	11	3	0	0	0	0	0	0	2	3	2	2	2	5	4	4	2	5	2	0			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703491G>C	ENST00000311177.5	-	1	348	c.141C>G	c.(139-141)ttC>ttG	p.F47L	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.F47L|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	47					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TGCACGAGGGGAACTCCAGGT	0.687																																						uc002inx.3																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(139-141)ttC>ttG		Homo sapiens homeobox B9 (HOXB9), mRNA.							9	12	11					17																	46703491		2183	4271	6454	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703491G>C		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.141C>G	17.37:g.46703491G>C	ENSP00000309439:p.Phe47Leu						p.F47L	NM_024017	NP_076922	P17482	HXB9_HUMAN			0	345	-			47					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.141C>G	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013653	0.75161	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	D	0.94046	-3.34	4.66	3.65	0.41850	Hox9, N-terminal activation domain (1);	0.061406	0.64402	D	0.000004	D	0.90359	0.6983	M	0.64404	1.975	0.51767	D	0.999937	P	0.51449	0.945	B	0.43623	0.425	D	0.86455	0.1775	10	0.25751	T	0.34	.	7.8511	0.29455	0.0819:0.0:0.7561:0.162	.	47	P17482	HXB9_HUMAN	L	47	ENSP00000309439:F47L	ENSP00000309439:F47L	F	-	3	2	HOXB9	44058490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.472000	0.35376	1.022000	0.39626	0.555000	0.69702	TTC		0.687	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			C	46703491	G	C	46703491	3	2	71	1	0	0	0	0	1	0	0	0	7308	1165	41	5	619	5	HOXB9	17	46703491	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	12441649	46703491	34491719	39	4712			1	16		2	2	48	G		7.590948e-05
HOXB9	3219	broad.mit.edu	37	chr17	46703538	46703538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcgagctcgcgtactGgccagaaggaaacttggctg	8	7	14	12	4	0	1	0	0	0	1	1	3	0	2	2	3	4	3	2	3	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703538G>A	ENST00000311177.5	-	1	301	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Nonsense_Mutation_p.Q32*|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	32					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTCGCGTACTGGCCAGAAGGA	0.622																																						uc002inx.3																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(94-96)Cag>Tag		Homo sapiens homeobox B9 (HOXB9), mRNA.							16	18	17					17																	46703538		2187	4261	6448	SO:0001587	stop_gained	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703538G>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.94C>T	17.37:g.46703538G>A	ENSP00000309439:p.Gln32*						p.Q32*	NM_024017	NP_076922	P17482	HXB9_HUMAN			0	298	-			32					B2RDB7|Q9H1I1	Nonsense_Mutation	SNP	ENST00000311177.5	37	c.94C>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198250	0.94997	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.7491	0.88429	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000309439:Q32X	Q	-	1	0	HOXB9	44058537	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	9.677000	0.98645	2.242000	0.73789	0.505000	0.49811	CAG		0.622	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			A	46703538	G	A	46703538	4	1	71	1	0	0	0	0	0	1	0	0	7308	1357	47	3	666	3	HOXB9	17	46703538	Nonsense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	47	46703538	34491672	40	4713			1	16		2	2	48	G		7.590948e-05
CACNG1	786	broad.mit.edu	37	chr17	65041001	65041001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcccatcaccctgccCgggggtaacgtacccaccct	6	6	11	18	3	1	0	1	0	0	0	1	0	1	0	5	3	4	2	5	3	2	2	rs573783922	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:65041001C>T	ENST00000226021.3	+	1	296	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	75					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCACCCTGCCCGGGGGTAACG	0.637													C|||	2	0.000399361	0	0	5008	,	,		17554	0		0	False		,,,				2504	0.002					uc002jfu.3																			0		p.P75A(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(223-225)ccC>ccT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						43	40	41					17																	65041001		2203	4300	6503	SO:0001819	synonymous_variant	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65041001C>T	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"Calcium channel subunits"	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.225C>T	17.37:g.65041001C>T							p.P75P	NM_000727	NP_000718	Q06432	CCG1_HUMAN			0	350	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		75					B2R9N3|Q14D59	Silent	SNP	ENST00000226021.3	37	c.225C>T	CCDS11668.1																																																																																				0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			T	65041001	C	T	65041001	2	4	71	1	0	0	0	0	0	0	0	1	2556	639	23	2		2	CACNG1	17	65041001	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	18337463	65041001	16154209	41	4714											
KIF19	124602	broad.mit.edu	37	chr17	72345359	72345359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtctcctaccacatcGcccagtacaccagcatcatc	11	8	5	17	2	2	1	1	1	1	0	5	1	2	1	4	0	4	2	4	0	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:72345359G>A	ENST00000389916.4	+	10	1222	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	362					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACCACATCGCCCAGTACAC	0.642																																						uc002jkm.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1084-1086)Gcc>Acc		Homo sapiens kinesin family member 19 (KIF19), mRNA.							83	70	74					17																	72345359		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345359G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1084G>A	17.37:g.72345359G>A	ENSP00000374566:p.Ala362Thr					KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T	p.A362T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			9	1222	+			362					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1084G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097807	0.76870	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.72725	-0.68;-0.68	5.9	4.9	0.64082	.	.	.	.	.	T	0.74107	0.3673	L	0.43152	1.355	0.48185	D	0.999608	P;D;P;P	0.67145	0.949;0.996;0.72;0.526	B;P;B;B	0.58928	0.312;0.848;0.287;0.138	T	0.67929	-0.5543	9	0.20519	T	0.43	.	15.4918	0.75611	0.0:0.0:0.8611:0.1389	.	362;320;320;362	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	320;362	ENSP00000449134:A320T;ENSP00000374566:A362T	ENSP00000374566:A362T	A	+	1	0	KIF19	69856954	1.000000	0.71417	0.967000	0.41034	0.228000	0.25075	6.893000	0.75649	2.822000	0.97130	0.556000	0.70494	GCC		0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72345359	G	A	72345359	3	1	71	1	0	0	0	0	1	0	0	0	8282	1087	38	1	1122	1	KIF19	17	72345359	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	7304358	72345359	8849851	42	4715											
LAMA1	284217	broad.mit.edu	37	chr18	6978310	6978310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccgccacgtccctcagCgtgctcaccgcgctctggct	4	7	10	20	5	3	0	2	0	1	0	4	0	4	0	5	1	3	3	5	1	0	0			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:6978310C>T	ENST00000389658.3	-	43	6168	c.6075G>A	c.(6073-6075)acG>acA	p.T2025T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2025	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGTCCCTCAGCGTGCTCACCG	0.537																																						uc002knm.3																			0		p.T2025M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6073-6075)acG>acA		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113	102	106					18																	6978310		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6978310C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6075G>A	18.37:g.6978310C>T						LAMA1_uc010wzj.2_Silent_p.T1501T	p.T2025T	NM_005559	NP_005550	P25391	LAMA1_HUMAN			42	6169	-		Colorectal(10;0.172)	2025			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.6075G>A	CCDS32787.1																																																																																				0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6978310	C	T	6978310	2	4	71	1	0	0	0	0	0	0	0	1	8605	755	27	1		1	LAMA1	18	6978310	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		6978310	71098938	43	4716											
SETBP1	26040	broad.mit.edu	37	chr18	42530386	42530386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaagaatgcccagaaaGcatttgacaatacagaaggg	16	6	12	7	0	1	4	1	1	0	3	1	4	1	4	1	2	3	1	1	2	6	2	rs146321232		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:42530386G>T	ENST00000282030.5	+	4	1377	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	361						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCCAGAAAGCATTTGACAA	0.478									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1081-1083)Gca>Tca		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.		G	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	72	72	72		1081	4.9	1	18	dbSNP_134	72	0,8600		0,0,4300	no	missense	SETBP1	NM_015559.2	99	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	361/1597	42530386	1,13005	2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530386G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1081G>T	18.37:g.42530386G>T	ENSP00000282030:p.Ala361Ser						p.A361S	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	3	1377	+			361					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1081G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859927	0.32884	2.27E-4	0.0	ENSG00000152217	ENST00000282030	T	0.33654	1.4	5.78	4.9	0.64082	.	0.244368	0.41294	D	0.000914	T	0.23886	0.0578	L	0.27053	0.805	0.27635	N	0.947905	B	0.06786	0.001	B	0.08055	0.003	T	0.13737	-1.0498	10	0.19590	T	0.45	.	10.5234	0.44934	0.0689:0.0:0.7973:0.1338	.	361	Q9Y6X0	SETBP_HUMAN	S	361	ENSP00000282030:A361S	ENSP00000282030:A361S	A	+	1	0	SETBP1	40784384	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.983000	0.56916	1.579000	0.49836	0.655000	0.94253	GCA		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42530386	G	T	42530386	3	4	71	1	0	0	0	0	1	0	0	0	14129	971	34	5	1284	5	SETBP1	18	42530386	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	35552076	42530386	35546862	44	4717											
ZNF254	9534	broad.mit.edu	37	chr19	24309636	24309636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcttttaatcgatcCtcaaatcttactacacataa	14	13	5	9	1	2	1	1	1	1	0	4	2	3	1	1	1	3	1	1	1	6	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:24309636C>T	ENST00000357002.4	+	4	949	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ZNF254_ENST00000342944.6_Silent_p.S193S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	278					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCCTCAAATCTTA	0.378																																						uc002nru.3																			0											c.(832-834)tcC>tcT		Homo sapiens zinc finger protein 254 (ZNF254), mRNA.							33	35	35					19																	24309636		2199	4298	6497	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309636C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.834C>T	19.37:g.24309636C>T						ZNF254_uc010xrk.2_Silent_p.S193S	p.S278S	NM_203282	NP_975011	O75437	ZN254_HUMAN			3	968	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	278					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.834C>T	CCDS32983.1																																																																																				0.378	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		T	24309636	C	T	24309636	2	4	71	1	0	0	0	0	0	0	0	1	17795	668	24	3		3	ZNF254	19	24309636	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		24309636	34819347	45	4718											
MEGF8	1954	broad.mit.edu	37	chr19	42861568	42861568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaggccccccagaccGtggagctgccagccgttgct	5	7	11	18	2	1	1	1	0	0	1	2	2	2	2	7	2	4	3	7	2	0	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:42861568G>A	ENST00000251268.6	+	28	4843	c.4843G>A	c.(4843-4845)Gtg>Atg	p.V1615M	MEGF8_ENST00000334370.4_Missense_Mutation_p.V1548M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1615					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCCAGACCGTGGAGCTGCC	0.652																																						uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4642-4644)Gtg>Atg		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							58	61	60					19																	42861568		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42861568G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4843G>A	19.37:g.42861568G>A	ENSP00000251268:p.Val1615Met					MEGF8_uc002otm.4_Missense_Mutation_p.V1156M	p.V1548M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			26	5277	+		Prostate(69;0.00682)	1615					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4642G>A		.	.	.	.	.	.	.	.	.	.	G	11.19	1.564759	0.27915	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.23348	1.91;1.92	5.21	1.64	0.23874	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.643221	0.15083	N	0.281537	T	0.12774	0.0310	L	0.27053	0.805	0.80722	D	1	P;B	0.44006	0.824;0.018	B;B	0.36504	0.226;0.005	T	0.11991	-1.0565	10	0.46703	T	0.11	-2.4518	2.2335	0.04002	0.1182:0.2874:0.427:0.1674	.	1615;1548	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1548;1615	ENSP00000334219:V1548M;ENSP00000251268:V1615M	ENSP00000251268:V1615M	V	+	1	0	MEGF8	47553408	0.044000	0.20184	0.553000	0.28255	0.560000	0.35617	0.058000	0.14301	0.524000	0.28502	0.563000	0.77884	GTG		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42861568	G	A	42861568	3	1	71	1	0	0	0	0	1	0	0	0	9463	1145	40	1	4748	1	MEGF8	19	42861568	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	18551932	42861568	16267415	46	4719											
DUXA	503835	broad.mit.edu	37	chr19	57669795	57669795	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgccttgatgagagtgtgTaactgagaggcgctgtaggt	10	11	15	5	1	0	3	0	3	0	2	0	5	0	3	1	2	2	3	1	2	3	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:57669795T>C	ENST00000554048.2	-	4	338	c.339A>G	c.(337-339)ttA>ttG	p.L113L		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TGAGAGTGTGTAACTGAGAGG	0.488																																						uc002qoa.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(337-339)ttA>ttG		Homo sapiens double homeobox A (DUXA), mRNA.							92	90	91					19																	57669795		2203	4300	6503	SO:0001819	synonymous_variant	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57669795T>C		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.339A>G	19.37:g.57669795T>C							p.L113L	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	3	384	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	113						Silent	SNP	ENST00000554048.2	37	c.339A>G	CCDS33126.1																																																																																				0.488	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		C	57669795	T	C	57669795	2	2	71	1	0	0	0	0	0	0	0	1	4834	1635	57	4		4	DUXA	19	57669795	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	14808227	57669795	1459188	47	4720											
TASP1	55617	broad.mit.edu	37	chr20	13514755	13514755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggtccacaaccacagCgcctaccgtgtccaaagtgc	9	8	9	15	3	0	0	0	0	0	0	3	0	2	0	5	1	4	0	5	1	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:13514755C>T	ENST00000337743.4	-	9	829	c.709G>A	c.(709-711)Gct>Act	p.A237T	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	237					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ACAACCACAGCGCCTACCGTG	0.507																																						uc002woi.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(709-711)Gct>Act		Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.							167	142	151					20																	13514755		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13514755C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.709G>A	20.37:g.13514755C>T	ENSP00000338624:p.Ala237Thr					TASP1_uc010zri.1_Intron|TASP1_uc010zrj.1_Non-coding_Transcript	p.A237T	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			8	826	-			237					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.709G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640206	0.96693	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.87809	-2.3;-2.3	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.95816	0.8845	10	0.87932	D	0	-10.8983	19.6321	0.95713	0.0:1.0:0.0:0.0	.	237;214	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	T	214;237;214	ENSP00000338624:A237T;ENSP00000400580:A214T	ENSP00000338624:A237T	A	-	1	0	TASP1	13462755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.031000	0.76491	2.734000	0.93682	0.655000	0.94253	GCT		0.507	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		T	13514755	C	T	13514755	3	4	71	1	0	0	0	0	1	0	0	0	15586	768	27	1	577	1	TASP1	20	13514755	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		13514755	49510765	48	4721											
REM1	28954	broad.mit.edu	37	chr20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaaggcagacttggcccGctgccgagaagtctctgtgg	9	7	13	12	2	1	2	0	0	1	2	2	3	1	2	2	3	2	2	2	3	3	1	rs199660041		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:30070268G>A	ENST00000201979.2	+	4	895	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	201					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612													G|||	1	0.000199681	0	0	5008	,	,		18449	0		0.001	False		,,,				2504	0					uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(601-603)cGc>cAc		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.							68	63	65					20																	30070268		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070268G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.602G>A	20.37:g.30070268G>A	ENSP00000201979:p.Arg201His						p.R201H	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		3	886	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		201					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.602G>A	CCDS13181.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.353122	0.95830	.	.	ENSG00000088320	ENST00000201979	T	0.79845	-1.31	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87002	0.2117	10	0.72032	D	0.01	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	201	O75628	REM1_HUMAN	H	201	ENSP00000201979:R201H	ENSP00000201979:R201H	R	+	2	0	REM1	29533929	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.652000	0.98499	2.577000	0.86979	0.563000	0.77884	CGC		0.612	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		A	30070268	G	A	30070268	3	1	71	1	0	0	0	0	1	0	0	0	13222	1087	38	1	612	1	REM1	20	30070268	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	16555513	30070268	32955252	49	4722											
TRPM2	7226	broad.mit.edu	37	chr21	45826547	45826547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcggggtggccaagcaggCcatcctcatccacaacgagc	9	6	11	15	2	1	0	1	0	0	0	4	1	3	0	4	4	3	1	4	4	2	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr21:45826547C>A	ENST00000397928.1	+	19	3306	c.2861C>A	c.(2860-2862)gCc>gAc	p.A954D	TRPM2_ENST00000300482.5_Missense_Mutation_p.A954D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A954D|TRPM2_ENST00000300481.9_Missense_Mutation_p.A934D	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	954					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCAAGCAGGCCATCCTCATC	0.607																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2860-2862)gCc>gAc		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							55	50	51					21																	45826547		2191	4289	6480	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45826547C>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2861C>A	21.37:g.45826547C>A	ENSP00000381023:p.Ala954Asp					TRPM2_uc002zet.1_Missense_Mutation_p.A954D|TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D	p.A954D	NM_003307	NP_003298	O94759	TRPM2_HUMAN			18	2961	+			954					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2861C>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	c	19.97	3.925754	0.73213	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	3.98	3.04	0.35103	Ion transport (1);	0.224693	0.38326	N	0.001737	D	0.82628	0.5078	M	0.90082	3.085	0.51482	D	0.999924	D;D;D	0.67145	0.996;0.981;0.981	P;D;P	0.64687	0.873;0.928;0.873	D	0.85918	0.1444	10	0.87932	D	0	-17.2408	13.4373	0.61092	0.0:0.8409:0.1591:0.0	.	954;740;954	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	D	954;954;934;954	ENSP00000300482:A954D;ENSP00000381023:A954D;ENSP00000300481:A934D;ENSP00000381026:A954D	ENSP00000300481:A934D	A	+	2	0	TRPM2	44650975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.164000	0.50770	0.732000	0.32470	0.536000	0.68110	GCC		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45826547	C	A	45826547	3	1	71	1	0	0	0	0	1	0	0	0	16583	739	26	5	2935	5	TRPM2	21	45826547	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		45826547	2303348	50	4723											
MID2	11043	broad.mit.edu	37	chrX	107160914	107160914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggggcctgtggccagaGataaggaaatgtaaggaagc	13	7	16	5	0	0	1	0	0	0	1	0	4	0	3	2	5	1	2	2	5	4	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chrX:107160914G>T	ENST00000262843.6	+	7	1928	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	460	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGGCCAGAGATAAGGAAAT	0.468																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1378-1380)gaG>gaT		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							174	150	158					X																	107160914		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160914G>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1380G>T	X.37:g.107160914G>T	ENSP00000262843:p.Glu460Asp					MID2_uc004enk.3_Intron	p.E460D	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			6	1953	+			460			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1380G>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609073	0.28623	.	.	ENSG00000080561	ENST00000262843	T	0.59638	0.25	4.96	4.96	0.65561	Fibronectin, type III (3);	0.302365	0.27891	N	0.017433	T	0.52224	0.1721	N	0.08118	0	0.80722	D	1	B	0.30068	0.267	P	0.48654	0.585	T	0.60622	-0.7227	10	0.66056	D	0.02	.	12.2967	0.54852	0.0:0.0:1.0:0.0	.	460	Q9UJV3	TRIM1_HUMAN	D	460	ENSP00000262843:E460D	ENSP00000262843:E460D	E	+	3	2	MID2	107047570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.646000	0.37249	2.294000	0.77228	0.538000	0.68166	GAG		0.468	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		T	107160914	G	T	107160914	3	4	71	1	0	0	0	0	1	0	0	0	9578	933	33	5	1406	5	MID2	23	107160914	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		107160914	48109646	51	4724											
FBXO44	93611	broad.mit.edu	37	chr1	11716011	11716011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctctggcgggaccTcatcgacctcgtgaccctct	5	9	10	17	3	3	1	1	1	2	0	5	3	3	2	4	2	2	1	4	2	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:11716011T>C	ENST00000251547.5	+	2	201	c.119T>C	c.(118-120)cTc>cCc	p.L40P	FBXO44_ENST00000376768.1_Missense_Mutation_p.L40P|FBXO44_ENST00000376762.4_Missense_Mutation_p.L40P|FBXO2_ENST00000475961.1_5'Flank|FBXO44_ENST00000376770.1_Missense_Mutation_p.L40P|FBXO44_ENST00000376760.1_Missense_Mutation_p.L40P|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Missense_Mutation_p.L40P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	40	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGACCTCATCGACCTC	0.632																																						uc010oar.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(118-120)cTc>cCc		Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.							63	68	66					1																	11716011		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716011T>C	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.119T>C	1.37:g.11716011T>C	ENSP00000251547:p.Leu40Pro					FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Missense_Mutation_p.L40P|FBXO44_uc001asl.3_Missense_Mutation_p.L40P|FBXO44_uc001asn.3_Missense_Mutation_p.L40P	p.L40P	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	1	245	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	40			F-box.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.119T>C	CCDS132.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577675	0.86645	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.45	5.45	0.79879	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.290724	0.32736	N	0.005708	T	0.77758	0.4178	H	0.95151	3.63	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.992	D	0.84873	0.0826	10	0.87932	D	0	-18.6926	14.6723	0.68953	0.0:0.0:0.0:1.0	.	40;40;40	B7Z1P2;Q9H4M3;Q9H4M3-2	.;FBX44_HUMAN;.	P	40	ENSP00000251546:L40P;ENSP00000389820:L40P;ENSP00000365961:L40P;ENSP00000365959:L40P;ENSP00000251547:L40P;ENSP00000365953:L40P;ENSP00000365951:L40P	ENSP00000251546:L40P	L	+	2	0	FBXO44	11638598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.749000	0.62155	2.065000	0.61736	0.334000	0.21626	CTC		0.632	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		C	11716011	T	C	11716011	3	2	72	1	0	0	0	0	1	0	0	0	5753	1551	54	4	121	4	FBXO44	1	11716011	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08		11716011	237534610	1	4725											
NFIA	4774	broad.mit.edu	37	chr1	61869812	61869812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcgactcttcatttccCgacatcacccattatccagc	10	11	3	17	2	3	0	2	0	1	0	6	2	5	0	4	0	1	0	4	0	1	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:61869812C>T	ENST00000403491.3	+	8	1596	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	NFIA_ENST00000371189.4_Missense_Mutation_p.P416L|NFIA_ENST00000371185.2_Missense_Mutation_p.P349L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.P328L|NFIA_ENST00000371191.1_Missense_Mutation_p.P394L|NFIA_ENST00000407417.3_Missense_Mutation_p.P363L|NFIA_ENST00000357977.5_Missense_Mutation_p.P19L|NFIA_ENST00000371184.2_Missense_Mutation_p.P242L|NFIA_ENST00000371187.3_Missense_Mutation_p.P371L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	371					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTTCATTTCCCGACATCACCC	0.493																																						uc010oos.2																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.(1246-1248)cCg>cTg		Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.							188	169	175					1																	61869812		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61869812C>T	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1112C>T	1.37:g.61869812C>T	ENSP00000384523:p.Pro371Leu					NFIA_uc001czy.3_Missense_Mutation_p.P363L|NFIA_uc001czw.3_Missense_Mutation_p.P371L|NFIA_uc001czv.3_Missense_Mutation_p.P371L|NFIA_uc001czx.3_Missense_Mutation_p.P19L|NFIA_uc009wae.3_5'Flank	p.P416L	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN			8	1329	+			371					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.1247C>T	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190224	0.78789	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.62	5.62	0.85841	.	0.051492	0.85682	D	0.000000	T	0.64746	0.2626	M	0.82716	2.605	0.80722	D	1	D;B;B;B;B	0.61080	0.989;0.16;0.097;0.097;0.221	P;B;B;B;B	0.50934	0.654;0.018;0.011;0.011;0.026	T	0.69347	-0.5169	10	0.56958	D	0.05	-12.5483	20.0274	0.97527	0.0:1.0:0.0:0.0	.	416;394;349;371;371	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	L	394;363;416;371;371;349;242;328	ENSP00000360233:P394L;ENSP00000384680:P363L;ENSP00000360231:P416L;ENSP00000384523:P371L;ENSP00000360227:P349L;ENSP00000360226:P242L	ENSP00000360226:P242L	P	+	2	0	NFIA	61642400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.798000	0.96311	0.557000	0.71058	CCG		0.493	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		T	61869812	C	T	61869812	3	4	72	1	0	0	0	0	1	0	0	0	10370	652	23	2	1288	2	NFIA	1	61869812	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	50153801	61869812	187380809	2	4726											
LRRC8C	84230	broad.mit.edu	37	chr1	90178321	90178321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagtgcagcctgctcagaaCcactcttccctttcgaatgt	9	11	8	13	1	2	2	1	0	1	2	4	3	3	2	3	0	4	2	3	0	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:90178321C>A	ENST00000370454.4	+	3	447	c.192C>A	c.(190-192)aaC>aaA	p.N64K	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	64					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGCTCAGAACCACTCTTCCC	0.433																																						uc001dnl.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(190-192)aaC>aaA		Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.							92	89	90					1																	90178321		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178321C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.192C>A	1.37:g.90178321C>A	ENSP00000359483:p.Asn64Lys						p.N64K	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	2	434	+		all_lung(203;0.126)	64					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.192C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624648	0.66901	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.78	4.87	0.63330	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.369273	0.34700	N	0.003746	T	0.08670	0.0215	N	0.14661	0.345	0.43133	D	0.994872	B	0.14012	0.009	B	0.22152	0.038	T	0.06570	-1.0819	10	0.51188	T	0.08	.	14.7584	0.69588	0.0:0.9308:0.0:0.0692	.	64	Q8TDW0	LRC8C_HUMAN	K	64	ENSP00000359483:N64K	ENSP00000359483:N64K	N	+	3	2	LRRC8C	89950909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.205000	0.32308	1.448000	0.47680	0.655000	0.94253	AAC		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		A	90178321	C	A	90178321	3	1	72	1	0	0	0	0	1	0	0	0	9023	506	18	5	198	5	LRRC8C	1	90178321	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	28308509	90178321	159072300	3	4727											
FLG	2312	broad.mit.edu	37	chr1	152287099	152287099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaattctcttttctggtaGactcataatatgcttgagcc	10	16	7	8	0	3	2	1	1	2	1	4	2	3	2	1	1	2	3	1	1	5	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:152287099G>T	ENST00000368799.1	-	3	298	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	88					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGGTAGACTCATAATA	0.358									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(262-264)tCt>tAt		Homo sapiens filaggrin (FLG), mRNA.							135	131	132					1																	152287099		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287099G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.263C>A	1.37:g.152287099G>T	ENSP00000357789:p.Ser88Tyr					AK056431_uc001ezv.3_Splice_Site	p.S88Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		88					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.263C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336865	0.24253	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.09	-0.609	0.11608	EF-hand-like domain (1);	.	.	.	.	T	0.02455	0.0075	L	0.40543	1.245	0.09310	N	1	B	0.34290	0.447	B	0.32465	0.146	T	0.42344	-0.9457	9	0.07990	T	0.79	-0.2108	7.6961	0.28596	0.0808:0.0:0.341:0.5782	.	88	P20930	FILA_HUMAN	Y	88	ENSP00000357789:S88Y	ENSP00000357789:S88Y	S	-	2	0	FLG	150553723	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.299000	0.19138	0.024000	0.15214	0.585000	0.79938	TCT		0.358	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152287099	G	T	152287099	3	4	72	1	0	0	0	0	1	0	0	0	5922	942	33	5	11926	5	FLG	1	152287099	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	62108778	152287099	96963522	4	4728											
PBXIP1	57326	broad.mit.edu	37	chr1	154918742	154918742	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctttccactccactcccTagaattctggaagtgggact	8	13	7	13	0	1	1	0	0	1	1	5	3	5	3	4	2	0	0	4	2	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:154918742T>G	ENST00000368463.3	-	10	1479	c.1408A>C	c.(1408-1410)Agg>Cgg	p.R470R	PBXIP1_ENST00000368465.1_Silent_p.R441R|PBXIP1_ENST00000542459.1_Silent_p.R315R|PBXIP1_ENST00000539880.1_Silent_p.R297R|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	470					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACTCCCTAGAATTCTGG	0.567																																						uc001ffr.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1408-1410)Agg>Cgg		Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.							153	169	163					1																	154918742		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918742T>G	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1408A>C	1.37:g.154918742T>G						PBXIP1_uc001ffs.3_Silent_p.R441R|PBXIP1_uc010pep.2_Silent_p.R315R	p.R470R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		9	1467	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		470					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.1408A>C	CCDS1074.1																																																																																				0.567	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		G	154918742	T	G	154918742	2	3	72	1	0	0	0	0	0	0	0	1	11496	1521	53	5		5	PBXIP1	1	154918742	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	2631643	154918742	94331879	5	4729											
SPTA1	6708	broad.mit.edu	37	chr1	158615169	158615169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctccatgtcagcacGgtgctcctgtgggaaaaagg	8	9	12	12	1	2	0	1	0	1	0	4	1	4	1	3	3	3	2	3	3	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:158615169G>A	ENST00000368147.4	-	29	4183	c.4003C>T	c.(4003-4005)Cgt>Tgt	p.R1335C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1335					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1335G(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTCAGCACGGTGCTCCTGT	0.488																																						uc001fst.1																			2	Substitution - Missense(2)	p.R1335G(4)	lung(2)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4003-4005)Cgt>Tgt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							62	61	61					1																	158615169		1907	4141	6048	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615169G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4003C>T	1.37:g.158615169G>A	ENSP00000357129:p.Arg1335Cys						p.R1335C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			28	4202	-	all_hematologic(112;0.0378)		1335					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4003C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973803	0.34848	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.06	0.976	0.19727	.	.	.	.	.	T	0.45736	0.1357	M	0.67700	2.07	0.28646	N	0.906934	D	0.89917	1.0	D	0.71184	0.972	T	0.21999	-1.0229	9	0.87932	D	0	.	5.1566	0.15038	0.3066:0.0:0.5608:0.1325	.	1335	P02549	SPTA1_HUMAN	C	1335	ENSP00000357130:R1335C;ENSP00000357129:R1335C	ENSP00000357129:R1335C	R	-	1	0	SPTA1	156881793	0.999000	0.42202	0.000000	0.03702	0.087000	0.18053	3.236000	0.51336	0.303000	0.22785	-0.142000	0.14014	CGT		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158615169	G	A	158615169	3	1	72	1	0	0	0	0	1	0	0	0	15115	1116	39	2	3352	2	SPTA1	1	158615169	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3696427	158615169	90635452	6	4730											
PEX19	5824	broad.mit.edu	37	chr1	160250017	160250017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagagattcccgatgaCtctgcaaccattctggatac	11	10	10	10	1	2	2	0	1	2	1	3	6	3	3	2	2	3	2	2	2	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:160250017C>T	ENST00000368072.5	-	6	635	c.614G>A	c.(613-615)aGt>aAt	p.S205N	PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.S115N|DCAF8_ENST00000556710.1_Missense_Mutation_p.S58N|DCAF8_ENST00000608310.1_Missense_Mutation_p.S58N	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	205					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCCGATGACTCTGCAACCA	0.418																																						uc010pjc.1																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(172-174)aGt>aAt		Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.							137	136	136					1																	160250017		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160250017C>T	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.614G>A	1.37:g.160250017C>T	ENSP00000357051:p.Ser205Asn					DCAF8_uc001fvs.2_Missense_Mutation_p.S205N|DCAF8_uc021pbq.1_Missense_Mutation_p.S205N|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.S115N	p.S58N	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			3	445	-			142					D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.173G>A	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628239	0.46944	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.63096	-0.02;-0.02	5.66	2.63	0.31362	.	0.390842	0.30134	N	0.010339	T	0.17831	0.0428	N	0.11560	0.145	0.32818	D	0.502398	B;B	0.30114	0.226;0.269	B;B	0.28139	0.086;0.055	T	0.03374	-1.1043	10	0.32370	T	0.25	3.4977	5.0365	0.14438	0.1332:0.4998:0.2889:0.0781	.	58;205	G3V3G9;P40855	.;PEX19_HUMAN	N	58;58;75;205;185;115;185	ENSP00000451989:S58N;ENSP00000451235:S58N	ENSP00000357051:S205N	S	-	2	0	RP11-574F21.3;PEX19;DCAF8	158516641	0.944000	0.32072	0.962000	0.40283	0.995000	0.86356	0.933000	0.28897	0.750000	0.32877	0.563000	0.77884	AGT		0.418	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		T	160250017	C	T	160250017	3	4	72	1	0	0	0	0	1	0	0	0	11744	565	20	3	297	3	PEX19	1	160250017	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	1634848	160250017	89000604	7	4731											
PAPPA2	60676	broad.mit.edu	37	chr1	176563773	176563773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcttctccctctgcaccGaccgcgtgaagaaagccacc	8	9	7	17	3	4	2	0	1	4	1	5	3	4	2	5	0	2	1	5	0	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:176563773G>A	ENST00000367662.3	+	3	2197	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D345N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	345					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCTGCACCGACCGCGTGAA	0.592																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1033-1035)Gac>Aac		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							58	60	60					1																	176563773		2091	4228	6319	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563773G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1033G>A	1.37:g.176563773G>A	ENSP00000356634:p.Asp345Asn					PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.3_Non-coding_Transcript	p.D345N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	2197	+			345					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1033G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840763	0.91197	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.097857	0.64402	D	0.000002	D	0.85243	0.5652	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86028	0.1511	10	0.66056	D	0.02	-26.7584	18.8948	0.92419	0.0:0.0:1.0:0.0	.	345;345	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	345	ENSP00000356634:D345N;ENSP00000356633:D345N	ENSP00000356633:D345N	D	+	1	0	PAPPA2	174830396	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.689000	0.98673	2.555000	0.86185	0.650000	0.86243	GAC		0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176563773	G	A	176563773	3	1	72	1	0	0	0	0	1	0	0	0	11433	1058	37	2	1039	2	PAPPA2	1	176563773	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	16313756	176563773	72686848	8	4732											
ABL2	27	broad.mit.edu	37	chr1	179090932	179090932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgttgtcaccagcccaTcagccactgtggagtgatgg	9	10	12	10	0	2	1	2	1	0	0	2	2	2	2	3	2	2	2	3	2	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:179090932T>C	ENST00000502732.1	-	5	961	c.758A>G	c.(757-759)gAt>gGt	p.D253G	ABL2_ENST00000408940.3_Missense_Mutation_p.D217G|ABL2_ENST00000392043.3_Missense_Mutation_p.D232G|ABL2_ENST00000507173.1_Missense_Mutation_p.D232G|ABL2_ENST00000512653.1_Missense_Mutation_p.D238G|ABL2_ENST00000511413.1_Missense_Mutation_p.D253G|ABL2_ENST00000344730.3_Missense_Mutation_p.D238G|ABL2_ENST00000367623.4_Missense_Mutation_p.D232G|ABL2_ENST00000504405.1_Missense_Mutation_p.D217G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	253	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCAGCCCATCAGCCACTGT	0.498			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(757-759)gAt>gGt		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						85	74	78					1																	179090932		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090932T>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.758A>G	1.37:g.179090932T>C	ENSP00000427562:p.Asp253Gly					ABL2_uc010pnf.2_Missense_Mutation_p.D253G|ABL2_uc010png.2_Missense_Mutation_p.D232G|ABL2_uc010pnh.2_Missense_Mutation_p.D232G|ABL2_uc009wxe.3_Missense_Mutation_p.D232G|ABL2_uc001gmg.4_Missense_Mutation_p.D238G|ABL2_uc001gmi.4_Missense_Mutation_p.D238G|ABL2_uc010pne.2_Missense_Mutation_p.D217G|ABL2_uc001gmk.3_Missense_Mutation_p.D217G|ABL2_uc009wxf.2_Missense_Mutation_p.D238G	p.D253G	NM_007314	NP_009298	P42684	ABL2_HUMAN			4	1045	-			253			SH2.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.758A>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620043	0.87460	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.2	5.2	0.72013	SH2 motif (3);	0.000000	0.53938	D	0.000049	T	0.51329	0.1668	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;P;D;P;D;P;D	0.89917	0.995;0.958;0.958;0.958;0.958;0.796;0.958;0.93;1.0;0.93;0.958	D;P;P;P;P;P;P;P;D;P;P	0.91635	0.994;0.854;0.897;0.854;0.854;0.502;0.897;0.791;0.999;0.791;0.854	T	0.56269	-0.8007	10	0.87932	D	0	.	14.2342	0.65913	0.0:0.0:0.0:1.0	.	232;232;253;217;217;232;217;253;238;217;238	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	G	253;217;238;238;217;232;232;253;232	ENSP00000427562:D253G;ENSP00000386152:D217G;ENSP00000339209:D238G;ENSP00000423578:D238G;ENSP00000426831:D217G;ENSP00000356595:D232G;ENSP00000423413:D232G;ENSP00000424697:D253G;ENSP00000375897:D232G	ENSP00000339209:D238G	D	-	2	0	ABL2	177357555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	1.958000	0.56883	0.533000	0.62120	GAT		0.498	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		C	179090932	T	C	179090932	3	2	72	1	0	0	0	0	1	0	0	0	93	1435	50	4	2867	4	ABL2	1	179090932	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	2527159	179090932	70159689	9	4733											
IL10	3586	broad.mit.edu	37	chr1	206942020	206942020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgtaggcttctatgtaGttgatgaagatgtcaaactc	11	14	10	6	0	3	3	2	2	1	1	4	3	3	3	0	1	1	4	0	1	5	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:206942020G>A	ENST00000423557.1	-	5	556	c.498C>T	c.(496-498)aaC>aaT	p.N166N	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	166					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTCTATGTAGTTGATGAAGA	0.413																																						uc001hen.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(496-498)aaC>aaT		Homo sapiens interleukin 10 (IL10), mRNA.							146	125	132					1																	206942020		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206942020G>A	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.498C>T	1.37:g.206942020G>A							p.N166N	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	557	-	Breast(84;0.183)		166						Silent	SNP	ENST00000423557.1	37	c.498C>T	CCDS1467.1																																																																																				0.413	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		A	206942020	G	A	206942020	2	1	72	1	0	0	0	0	0	0	0	1	7619	1020	36	3		3	IL10	1	206942020	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	27851088	206942020	42308601	10	4734											
CD46	4179	broad.mit.edu	37	chr1	207930974	207930974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggttatcagatgcactttAtttgtaatgaggggtaagtt	10	17	11	3	0	1	2	1	1	0	1	1	2	1	2	0	3	1	5	0	3	4	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207930974A>G	ENST00000358170.2	+	3	532	c.376A>G	c.(376-378)Att>Gtt	p.I126V	CD46_ENST00000441839.2_Missense_Mutation_p.I126V|CD46_ENST00000322875.4_Missense_Mutation_p.I126V|CD46_ENST00000322918.5_Missense_Mutation_p.I126V|CD46_ENST00000367047.1_Missense_Mutation_p.I63V|CD46_ENST00000361067.1_Missense_Mutation_p.I126V|CD46_ENST00000367041.1_Missense_Mutation_p.I126V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.I126V|CD46_ENST00000360212.2_Missense_Mutation_p.I126V|CD46_ENST00000357714.1_Missense_Mutation_p.I126V|CD46_ENST00000354848.1_Missense_Mutation_p.I126V|CD46_ENST00000367042.1_Missense_Mutation_p.I126V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	126	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATGCACTTTATTTGTAATGA	0.363																																						uc001hgc.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(376-378)Att>Gtt		Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.							48	46	47					1																	207930974		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930974A>G	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.376A>G	1.37:g.207930974A>G	ENSP00000350893:p.Ile126Val					CD46_uc001hgg.3_Missense_Mutation_p.I126V|CD46_uc001hgh.3_Missense_Mutation_p.I126V|CD46_uc001hgi.3_Missense_Mutation_p.I126V|CD46_uc001hgj.3_Missense_Mutation_p.I126V|CD46_uc001hgm.3_Missense_Mutation_p.I126V|CD46_uc001hgl.3_Missense_Mutation_p.I126V|CD46_uc001hgp.3_Missense_Mutation_p.I126V	p.I126V	NM_002389	NP_002380	P15529	MCP_HUMAN			2	551	+			126			Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.376A>G	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.186464	0.01620	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.07	-8.14	0.01069	Complement control module (2);Sushi/SCR/CCP (3);	3.049950	0.01216	N	0.007967	T	0.45296	0.1335	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B;P;B;B;B;B;B;P;P;P	0.40107	0.013;0.003;0.022;0.013;0.367;0.654;0.013;0.022;0.013;0.318;0.013;0.654;0.598;0.703	B;B;B;B;P;P;B;B;B;B;B;P;P;P	0.57720	0.014;0.001;0.017;0.014;0.549;0.733;0.023;0.017;0.014;0.09;0.014;0.714;0.643;0.826	T	0.51020	-0.8758	10	0.02654	T	1	.	5.4734	0.16682	0.2913:0.0:0.1474:0.5614	.	126;126;126;126;126;126;126;126;126;126;126;126;126;126	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	126;126;126;126;126;126;126;63;126;126;126;126	ENSP00000350893:I126V;ENSP00000346912:I126V;ENSP00000314664:I126V;ENSP00000356009:I126V;ENSP00000356008:I126V;ENSP00000350346:I126V;ENSP00000313875:I126V;ENSP00000356014:I63V;ENSP00000413543:I126V;ENSP00000354358:I126V;ENSP00000353342:I126V;ENSP00000418471:I126V	ENSP00000313875:I126V	I	+	1	0	CD46	205997597	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.598000	0.00419	-1.689000	0.01434	0.402000	0.26972	ATT		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		G	207930974	A	G	207930974	3	3	72	1	0	0	0	0	1	0	0	0	3018	449	16	4	386	4	CD46	1	207930974	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	988954	207930974	41319647	11	4735											
CD46	4179	broad.mit.edu	37	chr1	207934671	207934671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtatttgagtatcttGatgcagtaacttatagttgt	12	17	9	3	0	1	3	0	2	1	1	1	3	1	3	0	0	2	5	0	0	7	9	rs368070719		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207934671G>T	ENST00000358170.2	+	5	709	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CD46_ENST00000441839.2_Missense_Mutation_p.D185Y|CD46_ENST00000322875.4_Missense_Mutation_p.D185Y|CD46_ENST00000322918.5_Missense_Mutation_p.D185Y|CD46_ENST00000367047.1_Missense_Mutation_p.D122Y|CD46_ENST00000361067.1_Missense_Mutation_p.D185Y|CD46_ENST00000367041.1_Missense_Mutation_p.D185Y|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.D185Y|CD46_ENST00000360212.2_Missense_Mutation_p.D185Y|CD46_ENST00000357714.1_Missense_Mutation_p.D185Y|CD46_ENST00000354848.1_Missense_Mutation_p.D185Y|CD46_ENST00000367042.1_Missense_Mutation_p.D185Y	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	185	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAGTATCTTGATGCAGTAAC	0.373																																						uc001hgc.3																			0		p.D185G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(553-555)Gat>Tat		Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.							137	118	125					1																	207934671		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207934671G>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.553G>T	1.37:g.207934671G>T	ENSP00000350893:p.Asp185Tyr					CD46_uc001hgg.3_Missense_Mutation_p.D185Y|CD46_uc001hgh.3_Missense_Mutation_p.D185Y|CD46_uc001hgi.3_Missense_Mutation_p.D185Y|CD46_uc001hgj.3_Missense_Mutation_p.D185Y|CD46_uc001hgm.3_Missense_Mutation_p.D185Y|CD46_uc001hgl.3_Missense_Mutation_p.D185Y|CD46_uc001hgp.3_Missense_Mutation_p.D185Y	p.D185Y	NM_002389	NP_002380	P15529	MCP_HUMAN			4	728	+			185			Sushi 3.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.553G>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725572	0.48833	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.440827	0.19163	N	0.121131	T	0.81049	0.4742	M	0.78344	2.41	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.985;0.996;0.996;1.0;1.0;0.996;0.998;0.996;0.999;0.996;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.959;0.847;0.964;0.959;0.998;0.999;0.959;0.976;0.939;0.963;0.959;0.999;0.999;0.999	T	0.72453	-0.4289	10	0.72032	D	0.01	.	13.1862	0.59682	0.0:0.0:1.0:0.0	.	185;185;185;185;185;185;185;185;185;185;185;185;185;185	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	Y	185;185;185;185;185;185;185;122;185;185;185;185	ENSP00000350893:D185Y;ENSP00000346912:D185Y;ENSP00000314664:D185Y;ENSP00000356009:D185Y;ENSP00000356008:D185Y;ENSP00000350346:D185Y;ENSP00000313875:D185Y;ENSP00000356014:D122Y;ENSP00000413543:D185Y;ENSP00000354358:D185Y;ENSP00000353342:D185Y;ENSP00000418471:D185Y	ENSP00000313875:D185Y	D	+	1	0	CD46	206001294	0.226000	0.23696	0.024000	0.17045	0.033000	0.12548	3.053000	0.49901	2.562000	0.86427	0.585000	0.79938	GAT		0.373	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		T	207934671	G	T	207934671	3	4	72	1	0	0	0	0	1	0	0	0	3018	1290	45	5	571	5	CD46	1	207934671	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3697	207934671	41315950	12	4736											
PSD4	23550	broad.mit.edu	37	chr2	113940279	113940279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgggtccatcaggaCgggctggagccttgccagga	7	6	18	10	1	1	0	1	0	0	0	2	4	2	4	3	6	3	2	3	6	0	1	rs147089589		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Silent_p.D82D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(244-246)gaC>gaT		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.		T		1,4405	2.1+/-5.4	0,1,2202	51	52	52		246	-1.1	0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940279C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T						PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	p.D82D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			1	429	+			82					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.246C>T	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113940279	C	T	113940279	2	4	72	1	0	0	0	0	0	0	0	1	12649	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08		113940279	129259094	13	4737											
MGAT5	4249	broad.mit.edu	37	chr2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttaatcatgcaaattatgCccaatcgaaaggccacaaga	17	9	6	9	1	1	1	1	0	0	1	2	2	1	1	2	1	2	1	2	1	6	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413																																						uc002ttw.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1174-1176)gCc>gTc		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.							145	139	141					2																	135107438		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135107438C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1175C>T	2.37:g.135107438C>T	ENSP00000386377:p.Ala392Val						p.A392V	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	8	1320	+			392					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1175C>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354094	0.61293	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.12	4.23	0.50019	.	0.049024	0.85682	D	0.000000	T	0.64416	0.2596	M	0.62266	1.93	0.80722	D	1	P	0.44627	0.839	P	0.48704	0.587	T	0.69367	-0.5164	9	0.72032	D	0.01	-14.4403	15.2536	0.73568	0.1416:0.8584:0.0:0.0	.	392	Q09328	MGT5A_HUMAN	V	392	.	ENSP00000281923:A392V	A	+	2	0	MGAT5	134823908	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.772000	0.85439	1.238000	0.43771	-0.182000	0.12963	GCC		0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		T	135107438	C	T	135107438	3	4	72	1	0	0	0	0	1	0	0	0	9548	739	26	3	1209	3	MGAT5	2	135107438	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	21167159	135107438	108091935	14	4738											
XIRP2	129446	broad.mit.edu	37	chr2	168107813	168107813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttgcagtgcctcctcGcctgtcagagcacacacaga	10	7	10	14	1	1	2	1	0	0	2	3	2	2	2	3	1	3	3	3	1	1	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:168107813G>A	ENST00000409195.1	+	9	10000	c.9911G>A	c.(9910-9912)cGc>cAc	p.R3304H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3304H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3082H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3129					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGCCTCCTCGCCTGTCAGAG	0.438																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9910-9912)cGc>cAc		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							106	107	107					2																	168107813		2025	4191	6216	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107813G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9911G>A	2.37:g.168107813G>A	ENSP00000386840:p.Arg3304His					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.3_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.3_Intron	p.R3304H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10000	+			3129					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9911G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553755	0.03996	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02579	4.24;4.24;4.24	5.67	-3.91	0.04168	.	0.818994	0.11350	N	0.573066	T	0.01156	0.0038	N	0.04880	-0.145	0.09310	N	1	P;B;B	0.35050	0.482;0.003;0.001	B;B;B	0.25759	0.063;0.002;0.002	T	0.50320	-0.8842	10	0.13470	T	0.59	11.3009	9.3978	0.38412	0.6913:0.0:0.1912:0.1175	.	3129;3129;3082	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3304;3304;3082;718	ENSP00000386840:R3304H;ENSP00000295237:R3304H;ENSP00000387255:R3082H	ENSP00000295237:R3304H	R	+	2	0	XIRP2	167816059	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.188000	0.17018	-0.793000	0.04475	-0.237000	0.12165	CGC		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168107813	G	A	168107813	3	1	72	1	0	0	0	0	1	0	0	0	17427	1087	38	1	9941	1	XIRP2	2	168107813	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	33000375	168107813	75091560	15	4739											
LRP2	4036	broad.mit.edu	37	chr2	170134318	170134318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtcaacccagtaaacaCgcttcgatatcatatccaga	15	8	7	11	2	2	2	2	0	0	2	4	4	3	2	2	0	2	2	2	0	5	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:170134318C>T	ENST00000263816.3	-	13	1994	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	570					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R570H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCAGTAAACACGCTTCGATAT	0.408																																						uc002ues.3																			1	Substitution - Missense(1)	p.R570H(2)	ovary(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1708-1710)cGt>cAt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						143	139	140					2																	170134318		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134318C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1709G>A	2.37:g.170134318C>T	ENSP00000263816:p.Arg570His					LRP2_uc010zdf.1_Intron	p.R570H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1922	-			570					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1709G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856724	0.71834	.	.	ENSG00000081479	ENST00000263816	D	0.91945	-2.94	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95349	0.8445	10	0.42905	T	0.14	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	570	P98164	LRP2_HUMAN	H	570	ENSP00000263816:R570H	ENSP00000263816:R570H	R	-	2	0	LRP2	169842564	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	7.723000	0.84788	2.680000	0.91292	0.555000	0.69702	CGT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170134318	C	T	170134318	3	4	72	1	0	0	0	0	1	0	0	0	8956	536	19	1	12526	1	LRP2	2	170134318	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	2026505	170134318	73065055	16	4740											
TTN	7273	broad.mit.edu	37	chr2	179399105	179399108	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ctgataactttagtactgacTctttctatcttctgcttcaa																										TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179399105_179399108delTCTT	ENST00000591111.1	-	308	97535_97538	c.97311_97314delAAGA	c.(97309-97314)gaaagafs	p.ER32437fs	TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.ER25138fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.ER25013fs|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.ER25205fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.ER34078fs|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.ER31510fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32437					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTACTGACTCTTTCTATCTTCT	0.461																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94528-94533)gaaagafs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399105_179399108delTCTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97311_97314delAAGA	2.37:g.179399105_179399108delTCTT	ENSP00000465570:p.Glu32437fs					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.E25205fs|TTN_uc021vta.1_Frame_Shift_Del_p.E25138fs|TTN_uc021vtb.1_Frame_Shift_Del_p.E25013fs	p.E31510fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	94755_94758	-			32437			Ig-like 140.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.94530_94533delAAGA																																																																																					0.461	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179399108	TCTT	-	179399105	7	5	72	1	0	1	0	1	0	0	0	0	16732	1548	54	0	5762	0	TTN	2	179399105	Frame_Shift_Del	DEL	TCTT	TCGA-06-0939-01A-01D-1353-08	9264787	179399105	63800268	17	4741											
TTN	7273	broad.mit.edu	37	chr2	179544077	179544077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtaccttttgctggcGgaggcttctcctttttagga	6	15	12	8	1	1	0	0	0	1	0	2	3	1	3	2	5	2	3	2	5	2	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179544077G>A	ENST00000591111.1	-	140	33004	c.32780C>T	c.(32779-32781)cCg>cTg	p.P10927L	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P11244L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10000L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11698	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCTGGCGGAGGCTTCTC	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29998-30000)cCg>cTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107	102	104					2																	179544077		1858	4101	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544077G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32780C>T	2.37:g.179544077G>A	ENSP00000465570:p.Pro10927Leu					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.P10000L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		138	30224	-			10927			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29999C>T		.	.	.	.	.	.	.	.	.	.	G	8.032	0.761929	0.15914	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.93	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.69726	0.3143	M	0.88775	2.98	0.80722	D	1	B	0.26195	0.144	B	0.16722	0.016	T	0.71639	-0.4532	9	0.87932	D	0	.	10.5228	0.44929	0.0697:0.0:0.7972:0.1331	.	10927	Q8WZ42	TITIN_HUMAN	L	10000	ENSP00000343764:P10000L	ENSP00000343764:P10000L	P	-	2	0	TTN	179252322	0.998000	0.40836	0.996000	0.52242	0.114000	0.19823	3.721000	0.54941	1.513000	0.48852	0.655000	0.94253	CCG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179544077	G	A	179544077	3	1	72	1	0	0	0	0	1	0	0	0	16732	1116	39	2	70682	2	TTN	2	179544077	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	144972	179544077	63655296	18	4742											
SDPR	8436	broad.mit.edu	37	chr2	192711596	192711596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgagggcttttcctgcCgcatgtcagacccagggtgc	5	9	14	13	2	1	1	1	0	0	1	3	2	2	1	3	3	2	3	3	3	0	2	rs371428159		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:192711596C>T	ENST00000304141.4	-	1	385	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTTTTCCTGCCGCATGTCAGA	0.607																																						uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(55-57)cGg>cAg		Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)	C	GLN/ARG	0,4406		0,0,2203	65	64	64		56	-2.2	0.1	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDPR	NM_004657.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	19/426	192711596	1,13005	2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711596C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.56G>A	2.37:g.192711596C>T	ENSP00000305675:p.Arg19Gln						p.R19Q	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		0	411	-			19						Missense_Mutation	SNP	ENST00000304141.4	37	c.56G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391751	0.04932	0.0	1.16E-4	ENSG00000168497	ENST00000304141	T	0.63096	-0.02	4.84	-2.25	0.06888	.	1.325690	0.04910	N	0.453002	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08046	-1.0741	10	0.19147	T	0.46	-0.3117	1.0706	0.01620	0.1489:0.3431:0.209:0.299	.	19	O95810	SDPR_HUMAN	Q	19	ENSP00000305675:R19Q	ENSP00000305675:R19Q	R	-	2	0	SDPR	192419841	0.000000	0.05858	0.121000	0.21740	0.210000	0.24377	-0.086000	0.11233	-0.300000	0.08895	-1.090000	0.02178	CGG		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		T	192711596	C	T	192711596	3	4	72	1	0	0	0	0	1	0	0	0	13970	652	23	2	1229	2	SDPR	2	192711596	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	13167519	192711596	50487777	19	4743											
NGEF	25791	broad.mit.edu	37	chr2	233744299	233744299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacattccttgaggttctggGaccggatcttgggattcaag	9	12	12	8	1	3	1	1	1	2	0	4	4	4	4	2	4	1	1	2	4	2	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:233744299G>T	ENST00000264051.3	-	15	2311	c.2033C>A	c.(2032-2034)tCc>tAc	p.S678Y	NGEF_ENST00000373552.4_Missense_Mutation_p.S586Y|NGEF_ENST00000539537.1_Missense_Mutation_p.S401Y	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	678					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGTTCTGGGACCGGATCTT	0.582																																						uc002vts.2																			0		p.R677Q(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(2032-2034)tCc>tAc		Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.							93	93	93					2																	233744299		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744299G>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2033C>A	2.37:g.233744299G>T	ENSP00000264051:p.Ser678Tyr					NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y	p.S678Y	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	14	2281	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	678					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2033C>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	g	16.56	3.157428	0.57259	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.72282	-0.43;-0.64;-0.59	4.19	4.19	0.49359	.	0.143980	0.47455	D	0.000240	T	0.61874	0.2382	N	0.08118	0	0.35136	D	0.76844	P;D	0.56521	0.828;0.976	B;P	0.51016	0.37;0.656	T	0.76239	-0.3032	10	0.62326	D	0.03	-25.0391	16.5379	0.84377	0.0:0.0:1.0:0.0	.	586;678	E9PC42;Q8N5V2	.;NGEF_HUMAN	Y	678;586;568;401	ENSP00000264051:S678Y;ENSP00000362653:S586Y;ENSP00000439035:S401Y	ENSP00000264051:S678Y	S	-	2	0	NGEF	233452543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.139000	0.64801	1.868000	0.54150	0.558000	0.71614	TCC		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		T	233744299	G	T	233744299	3	4	72	1	0	0	0	0	1	0	0	0	10394	1174	41	5	103	5	NGEF	2	233744299	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	41032703	233744299	9455074	20	4744											
PPARG	5468	broad.mit.edu	37	chr3	12447429	12447429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaggagaagctgttggCggagatctccagtgatatcg	11	8	15	7	3	1	4	0	1	1	3	3	7	1	4	1	3	1	2	1	3	3	2	rs573789959		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:12447429C>T	ENST00000287820.6	+	5	789	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PPARG_ENST00000397015.2_Missense_Mutation_p.A195V|PPARG_ENST00000539812.1_Missense_Mutation_p.A193V|PPARG_ENST00000397026.2_Missense_Mutation_p.A201V|PPARG_ENST00000397012.2_Missense_Mutation_p.A195V|PPARG_ENST00000397000.1_Missense_Mutation_p.A195V|PPARG_ENST00000397010.2_Missense_Mutation_p.A195V|PPARG_ENST00000309576.6_Missense_Mutation_p.A195V	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	223	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	AAGCTGTTGGCGGAGATCTCC	0.512			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						C|||	1	0.000199681	0	0	5008	,	,		18697	0.001		0	False		,,,				2504	0					uc003bwx.3				Dom	yes		3	3p25	5468	T	"peroxisome proliferative activated receptor, gamma"	yes	"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0		p.A223A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(667-669)gCg>gTg		Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						77	76	76					3																	12447429		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12447429C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.668C>T	3.37:g.12447429C>T	ENSP00000287820:p.Ala223Val					PPARG_uc003bwr.3_Missense_Mutation_p.A195V|PPARG_uc003bws.3_Missense_Mutation_p.A195V|PPARG_uc003bwu.3_Missense_Mutation_p.A195V|PPARG_uc003bwv.3_Missense_Mutation_p.A195V|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	p.A223V	NM_015869	NP_619726	P37231	PPARG_HUMAN			4	759	+			223			Interaction with FAM120B (By similarity).		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.668C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009273	0.93346	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.93906	-3.3;-3.3;-3.3;-3.3;-3.31;-2.81;-2.81;-3.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.995	P;B;B	0.48704	0.587;0.437;0.251	D	0.95636	0.8694	10	0.56958	D	0.05	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	223;209;195	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	V	195;195;195;195;201;195;193;223	ENSP00000380205:A195V;ENSP00000312472:A195V;ENSP00000380210:A195V;ENSP00000380207:A195V;ENSP00000380221:A201V;ENSP00000380196:A195V;ENSP00000438940:A193V;ENSP00000287820:A223V	ENSP00000287820:A223V	A	+	2	0	PPARG	12422429	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	7.263000	0.78421	2.741000	0.93983	0.650000	0.86243	GCG		0.512	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		T	12447429	C	T	12447429	3	4	72	1	0	0	0	0	1	0	0	0	12299	768	27	1	686	1	PPARG	3	12447429	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		12447429	185575001	21	4745											
C3orf72	401089	broad.mit.edu	37	chr3	138669148	138669148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagaagccgcccgcgcctCgggcttccggcggcccagct	4	4	15	18	6	0	1	0	0	0	1	2	1	1	1	5	4	2	3	5	4	1	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:138669148C>T	ENST00000383165.3	+	3	393	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		88										large_intestine(1)|lung(3)	4						GCCCGCGCCTCGGGCTTCCGG	0.692																																						uc003esx.1																			0				large_intestine(1)|lung(3)	4						c.(262-264)Cgg>Tgg		Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.							12	17	15					3																	138669148		1574	3696	5270	SO:0001583	missense	401089							g.chr3:138669148C>T																												ENST00000383165.3:c.262C>T	3.37:g.138669148C>T	ENSP00000372651:p.Arg88Trp					AK304483_uc011bmr.2_3'UTR	p.R88W	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			2	393	+			88					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.262C>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910914	0.17833	.	.	ENSG00000206262	ENST00000383165	.	.	.	0.985	-1.97	0.07503	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17561	-1.0365	8	0.87932	D	0	.	2.2287	0.03991	0.256:0.4162:0.0:0.3278	.	88	Q6ZUU3	CC072_HUMAN	W	88	.	ENSP00000372651:R88W	R	+	1	2	C3orf72	140151838	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.082000	0.01365	-1.225000	0.02578	0.305000	0.20034	CGG		0.692	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			T	138669148	C	T	138669148	3	4	72	1	0	0	0	0	1	0	0	0	2244	875	31	2	272	2	C3orf72	3	138669148	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	126221719	138669148	59353282	22	4746											
SUCNR1	56670	broad.mit.edu	37	chr3	151598459	151598459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagtccttggaaataccaTtgttgtttacggctacatct	9	14	10	8	1	1	0	0	0	1	0	2	2	2	2	2	3	3	3	2	3	4	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:151598459T>C	ENST00000362032.5	+	3	233	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	43						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAAATACCATTGTTGTTTAC	0.433																																						uc003ezf.2																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(127-129)aTt>aCt		Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	Succinic acid(DB00139)						188	197	194					3																	151598459		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598459T>C	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.128T>C	3.37:g.151598459T>C	ENSP00000355156:p.Ile43Thr						p.I43T	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	233	+			43					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.128T>C	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	T	0.189	-1.054847	0.01965	.	.	ENSG00000198829	ENST00000362032	T	0.72282	-0.64	5.27	-3.46	0.04767	GPCR, rhodopsin-like superfamily (1);	1.290650	0.05170	N	0.499470	T	0.46502	0.1396	N	0.01817	-0.705	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31668	-0.9935	10	0.38643	T	0.18	.	15.1187	0.72426	0.0:0.2351:0.0:0.7649	.	43	Q9BXA5	SUCR1_HUMAN	T	43	ENSP00000355156:I43T	ENSP00000355156:I43T	I	+	2	0	SUCNR1	153081149	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.052000	0.14163	-1.064000	0.03172	-0.256000	0.11100	ATT		0.433	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		C	151598459	T	C	151598459	3	2	72	1	0	0	0	0	1	0	0	0	15365	1493	52	4	134	4	SUCNR1	3	151598459	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	12929311	151598459	46423971	23	4747											
ZNF732	654254	broad.mit.edu	37	chr4	266352	266352	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcatatcttcttaatatAagtttgtggaacgaatcttc	11	18	5	7	1	4	0	1	0	4	0	6	2	4	1	0	1	1	1	0	1	6	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:266352A>G	ENST00000419098.1	-	4	304	c.294T>C	c.(292-294)ctT>ctC	p.L98L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTCTTAATATAAGTTTGTGGA	0.328																																						uc021xka.1																			0				endometrium(1)|lung(2)	3						c.(292-294)ctT>ctC		Homo sapiens zinc finger protein 732 (ZNF732), mRNA.							67	53	57					4																	266352		692	1589	2281	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:266352A>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.294T>C	4.37:g.266352A>G						ZNF732_uc011buu.1_Silent_p.L66L	p.L98L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	294	-			98						Silent	SNP	ENST00000419098.1	37	c.294T>C	CCDS46990.1																																																																																				0.328	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		G	266352	A	G	266352	2	3	72	1	0	0	0	0	0	0	0	1	18120	349	13	4		4	ZNF732	4	266352	Silent	SNP	A	TCGA-06-0939-01A-01D-1353-08		266352	190887924	24	4748											
WDR19	57728	broad.mit.edu	37	chr4	39267694	39267694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacaggttggtcaggcCaaagatgaactgctgaccaa	15	8	10	8	0	1	3	1	2	0	1	1	3	1	3	2	3	3	2	2	3	5	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:39267694C>T	ENST00000399820.3	+	29	3349	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	WDR19_ENST00000288634.7_Silent_p.A905A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1065					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTGGTCAGGCCAAAGATGAAC	0.473																																						uc003gtv.3																			0				large_intestine(1)	1						c.(3193-3195)gcC>gcT		Homo sapiens WD repeat domain 19 (WDR19), mRNA.							61	60	60					4																	39267694		1912	4123	6035	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39267694C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3195C>T	4.37:g.39267694C>T						WDR19_uc011byi.2_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A	p.A1065A	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			28	3349	+			1065					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3195C>T	CCDS47042.1																																																																																				0.473	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			T	39267694	C	T	39267694	2	4	72	1	0	0	0	0	0	0	0	1	17276	581	21	3		3	WDR19	4	39267694	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	39001342	39267694	151886582	25	4749											
GUCY1B3	2983	broad.mit.edu	37	chr4	156721201	156721201	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcacgttaagagccctgGaagatgaaaagaaaaagaca	19	5	10	7	1	1	5	1	1	0	4	1	6	1	6	1	1	2	2	1	1	6	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:156721201G>T	ENST00000264424.8	+	9	1232	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.E316*|GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.E364*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.E406*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.E384*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.E316*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.E316*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	384					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGCCCTGGAAGATGAAAA	0.393																																						uc003ipc.3																			0		p.L383L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1150-1152)Gaa>Taa		Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.							90	89	89					4																	156721201		1896	4118	6014	SO:0001587	stop_gained	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156721201G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1150G>T	4.37:g.156721201G>T	ENSP00000264424:p.Glu384*					GUCY1B3_uc011cio.2_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.E312*	p.E384*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	8	1317	+	all_hematologic(180;0.24)	Renal(120;0.0854)	384					B7Z426|Q86WY5	Nonsense_Mutation	SNP	ENST00000264424.8	37	c.1150G>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	38	6.970294	0.97971	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	316;406;364;316;384;384;316	.	ENSP00000264424:E384X	E	+	1	0	GUCY1B3	156940651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.808000	0.96608	0.655000	0.94253	GAA		0.393	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			T	156721201	G	T	156721201	4	4	72	1	0	0	0	0	0	1	0	0	6895	1175	41	5	1184	5	GUCY1B3	4	156721201	Nonsense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	117453507	156721201	34433075	26	4750											
KIAA0947	23379	broad.mit.edu	37	chr5	5464090	5464090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataactcaaaactagagcCatctggcaaaaataagaatc	19	9	5	8	0	2	2	1	0	1	2	3	2	2	2	1	1	3	1	1	1	9	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:5464090C>G	ENST00000296564.7	+	13	4865	c.4643C>G	c.(4642-4644)cCa>cGa	p.P1548R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1548					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTAGAGCCATCTGGCAAA	0.358																																						uc003jdm.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4642-4644)cCa>cGa		Homo sapiens KIAA0947 (KIAA0947), mRNA.							43	40	41					5																	5464090		1833	4092	5925	SO:0001583	missense	23379							g.chr5:5464090C>G																												ENST00000296564.7:c.4643C>G	5.37:g.5464090C>G	ENSP00000296564:p.Pro1548Arg						p.P1548R	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			12	4865	+			1548					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4643C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926172	0.73327	.	.	ENSG00000164151	ENST00000296564	T	0.13420	2.59	5.27	5.27	0.74061	.	.	.	.	.	T	0.25644	0.0624	L	0.29908	0.895	0.41607	D	0.988885	D	0.89917	1.0	D	0.77004	0.989	T	0.01249	-1.1406	9	0.54805	T	0.06	-9.5664	14.3822	0.66919	0.0:1.0:0.0:0.0	.	1548	Q9Y2F5	K0947_HUMAN	R	1548	ENSP00000296564:P1548R	ENSP00000296564:P1548R	P	+	2	0	KIAA0947	5517090	0.380000	0.25131	0.905000	0.35620	0.966000	0.64601	1.745000	0.38278	2.453000	0.82957	0.460000	0.39030	CCA		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			G	5464090	C	G	5464090	3	3	72	1	0	0	0	0	1	0	0	0	8202	594	21	5	4693	5	KIAA0947	5	5464090	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5464090	175451170	27	4751											
BDP1	55814	broad.mit.edu	37	chr5	70806902	70806902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgagctagaggagaccagtaCctcaagacaaactgacacac	16	4	9	12	1	1	4	1	1	0	3	1	6	1	4	2	1	3	2	2	1	4	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:70806902C>A	ENST00000358731.4	+	17	4246	c.3983C>A	c.(3982-3984)aCc>aAc	p.T1328N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1328					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGACCAGTACCTCAAGACAA	0.408																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3982-3984)aCc>aAc		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							118	112	114					5																	70806902		1913	4125	6038	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806902C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3983C>A	5.37:g.70806902C>A	ENSP00000351575:p.Thr1328Asn					BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.3_Missense_Mutation_p.T1328N	p.T1328N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	16	4246	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1328					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3983C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722144	0.48728	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11277	2.79	3.24	1.46	0.22682	.	1.251600	0.05849	N	0.620895	T	0.22551	0.0544	L	0.51422	1.61	0.18873	N	0.999986	D;D;D	0.67145	0.98;0.996;0.991	P;P;P	0.62184	0.744;0.899;0.852	T	0.14504	-1.0470	10	0.62326	D	0.03	.	5.4458	0.16535	0.0:0.7377:0.0:0.2623	.	1328;1328;1328	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	1328;908	ENSP00000351575:T1328N	ENSP00000351575:T1328N	T	+	2	0	BDP1	70842658	0.000000	0.05858	0.065000	0.19835	0.208000	0.24298	-0.243000	0.08915	0.412000	0.25729	-0.379000	0.06801	ACC		0.408	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70806902	C	A	70806902	3	1	72	1	0	0	0	0	1	0	0	0	1395	507	18	5	4049	5	BDP1	5	70806902	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	65342812	70806902	110108358	28	4752											
SV2C	22987	broad.mit.edu	37	chr5	75428010	75428010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgataatccaagaatgCggtcatggtcgttttcagtg	10	12	12	7	2	2	2	2	1	0	1	4	3	3	2	1	2	2	2	1	2	3	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537																																						uc003kei.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(433-435)tgC>tgT		Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.							199	198	198					5																	75428010		2039	4185	6224	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428010C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.435C>T	5.37:g.75428010C>T							p.C145C	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	1	569	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	145					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.435C>T	CCDS43331.1																																																																																				0.537	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			T	75428010	C	T	75428010	2	4	72	1	0	0	0	0	0	0	0	1	15416	776	27	1		1	SV2C	5	75428010	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	4621108	75428010	105487250	29	4753											
FAM81B	153643	broad.mit.edu	37	chr5	94749868	94749868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccatcaccagcatcGtcaaaaaactcagccaaaat	17	6	4	14	1	3	1	3	0	0	1	5	1	4	1	4	0	3	1	4	0	5	0	rs577772054		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:94749868G>A	ENST00000283357.5	+	4	557	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	171						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACCAGCATCGTCAAAAAACT	0.418													G|||	1	0.000199681	0	0.0014	5008	,	,		19173	0		0	False		,,,				2504	0					uc003kla.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)Gtc>Atc		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							97	93	95					5																	94749868		1920	4138	6058	SO:0001583	missense	153643							g.chr5:94749868G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.511G>A	5.37:g.94749868G>A	ENSP00000283357:p.Val171Ile					FAM81B_uc010jbe.1_5'UTR	p.V171I	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	557	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	171						Missense_Mutation	SNP	ENST00000283357.5	37	c.511G>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756283	0.89843	.	.	ENSG00000153347	ENST00000283357	T	0.35605	1.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.79258	2.445	0.37653	D	0.922469	D	0.89917	1.0	D	0.81914	0.995	T	0.66575	-0.5889	10	0.45353	T	0.12	-15.959	18.2543	0.90014	0.0:0.0:1.0:0.0	.	171	Q96LP2	FA81B_HUMAN	I	171	ENSP00000283357:V171I	ENSP00000283357:V171I	V	+	1	0	FAM81B	94775624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.619000	0.83057	2.602000	0.87976	0.650000	0.86243	GTC		0.418	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		A	94749868	G	A	94749868	3	1	72	1	0	0	0	0	1	0	0	0	5629	1145	40	1	525	1	FAM81B	5	94749868	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	19321858	94749868	86165392	30	4754											
PCDHA1	56147	broad.mit.edu	37	chr5	140166149	140166149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgaattctcggatcgatCgcgaggagctgtgccagtgg	7	11	15	8	4	1	1	0	1	1	0	4	5	1	3	1	3	2	1	1	3	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:140166149C>T	ENST00000504120.2	+	1	274	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R92C|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R92C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(274-276)Cgc>Tgc		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							86	91	89					5																	140166149		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140166149C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.274C>T	5.37:g.140166149C>T	ENSP00000420840:p.Arg92Cys					PCDHAC2_uc003lha.2_Missense_Mutation_p.R92C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92C	p.R92C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	274	+			107			Cadherin 1.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.274C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.073762	0.36566	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.54071	0.59;0.59;0.59	4.31	4.31	0.51392	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.40144	U	0.001170	D	0.83501	0.5268	H	0.99634	4.67	0.42535	D	0.993053	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89168	0.3535	10	0.87932	D	0	.	11.246	0.48998	0.3204:0.6796:0.0:0.0	.	92;92;92	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	C	92	ENSP00000420840:R92C;ENSP00000378129:R92C;ENSP00000367373:R92C	ENSP00000367373:R92C	R	+	1	0	PCDHA1	140146333	0.990000	0.36364	0.996000	0.52242	0.075000	0.17131	0.554000	0.23407	2.127000	0.65507	0.650000	0.86243	CGC		0.567	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140166149	C	T	140166149	3	4	72	1	0	0	0	0	1	0	0	0	11519	884	31	2	276	2	PCDHA1	5	140166149	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	45416281	140166149	40749111	31	4755											
MED7	9443	broad.mit.edu	37	chr5	156565766	156565766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttcattcatctcatcaAttaggacacacaaggcagca	13	11	6	11	0	5	0	4	0	2	0	6	1	5	1	0	2	1	2	0	2	3	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:156565766A>G	ENST00000286317.5	-	2	1058	c.677T>C	c.(676-678)aTt>aCt	p.I226T	MED7_ENST00000420343.1_Missense_Mutation_p.I226T	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	226					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTCATCAATTAGGACACA	0.323																																						uc010jik.3																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(676-678)aTt>aCt		Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.							155	151	152					5																	156565766		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156565766A>G	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.677T>C	5.37:g.156565766A>G	ENSP00000286317:p.Ile226Thr					MED7_uc003lwm.4_Missense_Mutation_p.I226T|MED7_uc021ygl.1_Missense_Mutation_p.I226T	p.I226T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1069	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	226						Missense_Mutation	SNP	ENST00000286317.5	37	c.677T>C	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693322	0.30052	.	.	ENSG00000155868	ENST00000286317;ENST00000420343	.	.	.	5.81	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.39898	1.24	0.80722	D	1	B	0.15930	0.015	B	0.12837	0.008	T	0.47394	-0.9121	9	0.45353	T	0.12	-5.3088	11.8391	0.52344	0.9317:0.0:0.0683:0.0	.	226	O43513	MED7_HUMAN	T	226	.	ENSP00000286317:I226T	I	-	2	0	MED7	156498344	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	8.700000	0.91322	1.019000	0.39547	0.533000	0.62120	ATT		0.323	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		G	156565766	A	G	156565766	3	3	72	1	0	0	0	0	1	0	0	0	9452	101	4	4	28	4	MED7	5	156565766	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	16399617	156565766	24349494	32	4756											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581109	178581109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaagcggtggaaggcGgcctgcaccaggggcgccat	8	4	18	11	3	0	0	0	0	0	0	0	2	0	2	3	7	2	1	3	7	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:178581109G>A	ENST00000251582.7	-	8	1424	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ADAMTS2_ENST00000274609.5_Silent_p.A441A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	441	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGGAAGGCGGCCTGCACCA	0.711																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1321-1323)gcC>gcT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							19	19	19					5																	178581109		2198	4296	6494	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581109G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1323C>T	5.37:g.178581109G>A						ADAMTS2_uc011dgm.2_Silent_p.A441A	p.A441A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	7	1425	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	441			Peptidase M12B.			Silent	SNP	ENST00000251582.7	37	c.1323C>T	CCDS4444.1																																																																																				0.711	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178581109	G	A	178581109	2	1	72	1	0	0	0	0	0	0	0	1	265	1103	39	2		2	ADAMTS2	5	178581109	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	22015343	178581109	2334151	33	4757											
MUT	4594	broad.mit.edu	37	chr6	49419405	49419405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattgcttctattgcagtaCggacaatattattgtaggga	11	14	9	7	1	1	0	0	0	1	0	1	2	1	2	1	2	3	4	1	2	6	9	rs564069299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:49419405C>T	ENST00000274813.3	-	6	1233	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	369			R -> C (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.|R -> H (in MMAM; mut- and mut0). {ECO:0000269|PubMed:16281286, ECO:0000269|PubMed:9285782}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348																																						uc003ozg.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CM990882	MUT	M		c.(1105-1107)cGt>cAt		Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						59	54	56					6																	49419405		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49419405C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1106G>A	6.37:g.49419405C>T	ENSP00000274813:p.Arg369His						p.R369H	NM_000255	NP_000246	P22033	MUTA_HUMAN			5	1371	-	Lung NSC(77;0.0376)		369		R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1106G>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009540	0.93346	.	.	ENSG00000146085	ENST00000274813	D	0.99652	-6.3	5.05	5.05	0.67936	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-8.1074	17.3928	0.87437	0.0:1.0:0.0:0.0	.	369	P22033	MUTA_HUMAN	H	369	ENSP00000274813:R369H	ENSP00000274813:R369H	R	-	2	0	MUT	49527364	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.347000	0.79759	0.467000	0.42956	CGT		0.348	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			T	49419405	C	T	49419405	3	4	72	1	0	0	0	0	1	0	0	0	9991	536	19	1	1178	1	MUT	6	49419405	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		49419405	121695662	34	4758											
ZNF451	26036	broad.mit.edu	37	chr6	56963890	56963890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgacctgttcttgaatacaTtgatctggtcagcagtgatg	10	13	10	8	1	3	3	1	3	2	0	3	4	3	3	1	1	2	2	1	1	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:56963890T>C	ENST00000370706.4	+	3	381	c.137T>C	c.(136-138)aTt>aCt	p.I46T	ZNF451_ENST00000370710.6_Missense_Mutation_p.I46T|ZNF451_ENST00000370702.1_Missense_Mutation_p.I46T|ZNF451_ENST00000491832.2_Missense_Mutation_p.I46T|ZNF451_ENST00000357489.3_Missense_Mutation_p.I46T|ZNF451_ENST00000510989.1_3'UTR|ZNF451_ENST00000370708.4_Missense_Mutation_p.I46T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGAATACATTGATCTGGTC	0.338																																						uc003pdm.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(136-138)aTt>aCt		Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.							207	188	195					6																	56963890		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56963890T>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.137T>C	6.37:g.56963890T>C	ENSP00000359740:p.Ile46Thr					ZNF451_uc003pdl.3_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.2_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank	p.I46T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		2	361	+	Lung NSC(77;0.145)		46					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.137T>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110651	0.77210	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000370708;ENST00000370702;ENST00000508603;ENST00000491832;ENST00000370710	T;T;T;T;T;T;T	0.76709	3.07;3.07;3.07;-1.04;3.07;3.07;3.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.71581	2.175	0.51233	D	0.999918	P;D;D;D;D	0.89917	0.831;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.824;0.999;0.997;0.999;0.997	D	0.86495	0.1800	10	0.87932	D	0	-20.0448	12.7987	0.57573	0.0:0.0:0.0:1.0	.	46;46;46;46;46	Q9Y4E5-4;Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;.;ZN451_HUMAN;.;.	T	18;46;46;46;46;18;46;46	ENSP00000427558:I18T;ENSP00000359740:I46T;ENSP00000350083:I46T;ENSP00000359742:I46T;ENSP00000359736:I46T;ENSP00000421645:I46T;ENSP00000359744:I46T	ENSP00000350083:I46T	I	+	2	0	ZNF451	57071849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.248000	0.58760	2.272000	0.75746	0.460000	0.39030	ATT		0.338	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		C	56963890	T	C	56963890	3	2	72	1	0	0	0	0	1	0	0	0	17919	1493	52	4	147	4	ZNF451	6	56963890	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	7544485	56963890	114151177	35	4759											
SIM1	6492	broad.mit.edu	37	chr6	100896122	100896122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgtaccccgtcagctcCgccaccctgaggagagcaat	8	7	11	15	3	1	2	1	1	0	1	3	3	2	2	5	2	3	4	5	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:100896122C>T	ENST00000369208.3	-	8	1532	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SIM1_ENST00000262901.4_Silent_p.A250A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	250	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGTCAGCTCCGCCACCCTGA	0.627																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(748-750)gcG>gcA		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							102	76	85					6																	100896122		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896122C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.750G>A	6.37:g.100896122C>T						SIM1_uc021zdg.1_Silent_p.A250A|SIM1_uc010kcu.3_Silent_p.A250A	p.A250A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	1217	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	250			PAS 2.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.750G>A	CCDS5045.1																																																																																				0.627	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100896122	C	T	100896122	2	4	72	1	0	0	0	0	0	0	0	1	14323	639	23	2		2	SIM1	6	100896122	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	43932232	100896122	70218945	36	4760											
AIM1	202	broad.mit.edu	37	chr6	107008787	107008787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgccaaataggttctctaCgaccttttgttcaggtattt	8	16	8	9	2	2	0	1	0	1	0	4	1	2	0	2	2	1	3	2	2	4	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:107008787C>T	ENST00000369066.3	+	17	5228	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	AIM1_ENST00000535438.1_Nonsense_Mutation_p.R400*	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTTCTCTACGACCTTTTGT	0.378																																						uc003prh.3																			0		p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4741-4743)Cga>Tga		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							155	156	156					6																	107008787		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:107008787C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4741C>T	6.37:g.107008787C>T	ENSP00000358062:p.Arg1581*					AIM1_uc003pri.3_Nonsense_Mutation_p.R385*	p.R1581*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	16	5653	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1581			Beta/gamma crystallin 'Greek key' 12.		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.4741C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	47	13.806019	0.99764	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	.	.	.	6.06	0.229	0.15368	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2426	0.54551	0.4448:0.4928:0.0:0.0623	.	.	.	.	X	1581;400	.	ENSP00000358062:R1581X	R	+	1	2	AIM1	107115480	0.907000	0.30839	0.800000	0.32199	0.993000	0.82548	1.728000	0.38105	0.093000	0.17368	0.655000	0.94253	CGA		0.378	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	107008787	C	T	107008787	4	4	72	1	0	0	0	0	0	1	0	0	430	528	19	1	4807	1	AIM1	6	107008787	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	6112665	107008787	64106280	37	4761											
HECA	51696	broad.mit.edu	37	chr6	139488187	139488187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgtgcagttccttcggcgGctggacctctccgaactcct	4	10	10	17	4	1	0	0	0	1	0	5	2	3	1	5	3	2	3	5	3	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:139488187G>A	ENST00000367658.2	+	2	1323	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	346					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCTTCGGCGGCTGGACCTCT	0.597																																						uc003qin.3																			0		p.R346W(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1036-1038)cgG>cgA		Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.							59	56	57					6																	139488187		2203	4300	6503	SO:0001819	synonymous_variant	51696				respiratory tube development			g.chr6:139488187G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1038G>A	6.37:g.139488187G>A							p.R346R	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	1	1323	+			346						Silent	SNP	ENST00000367658.2	37	c.1038G>A	CCDS5194.1																																																																																				0.597	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		A	139488187	G	A	139488187	2	1	72	1	0	0	0	0	0	0	0	1	7038	1190	42	3		3	HECA	6	139488187	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	32479400	139488187	31626880	38	4762											
SNX9	51429	broad.mit.edu	37	chr6	158357061	158357061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaattgccagtctcGtggcagaacaggtactaaca	15	8	10	8	1	1	3	0	1	1	2	2	3	1	3	1	2	4	2	1	2	5	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:158357061G>T	ENST00000392185.3	+	14	1603	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L	RNU6-786P_ENST00000516849.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	478	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGCCAGTCTCGTGGCAGAACA	0.348																																						uc003qqv.1																			0		p.V478V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1432-1434)Gtg>Ttg		Homo sapiens sorting nexin 9 (SNX9), mRNA.							74	68	70					6																	158357061		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158357061G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1432G>T	6.37:g.158357061G>T	ENSP00000376024:p.Val478Leu						p.V478L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	13	1605	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	478			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1432G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652529	0.88056	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.39056	1.1	5.42	4.53	0.55603	Sorting nexin protein, WASP-binding domain (1);	0.127264	0.52532	D	0.000074	T	0.36717	0.0977	L	0.51422	1.61	0.80722	D	1	D	0.53151	0.958	P	0.48770	0.589	T	0.38415	-0.9662	10	0.72032	D	0.01	-0.9508	16.0164	0.80443	0.0:0.135:0.8649:0.0	.	478	Q9Y5X1	SNX9_HUMAN	L	478;478;278	ENSP00000376024:V478L	ENSP00000252631:V278L	V	+	1	0	SNX9	158277049	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	8.967000	0.93402	2.045000	0.60652	0.533000	0.62120	GTG		0.348	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			T	158357061	G	T	158357061	3	4	72	1	0	0	0	0	1	0	0	0	14909	1145	40	5	1486	5	SNX9	6	158357061	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	18868874	158357061	12758006	39	4763											
STK31	56164	broad.mit.edu	37	chr7	23827708	23827708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgctttaaaccgtgAacaaggaattgttggagatt	12	15	10	4	1	0	2	0	1	0	1	0	4	0	3	1	2	3	3	1	2	6	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:23827708A>G	ENST00000355870.3	+	21	2716	c.2597A>G	c.(2596-2598)gAa>gGa	p.E866G	STK31_ENST00000433467.2_Missense_Mutation_p.E866G|STK31_ENST00000354639.3_Missense_Mutation_p.E843G|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E843G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAACCGTGAACAAGGAATT	0.353																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2596-2598)gAa>gGa		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							115	107	110					7																	23827708		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23827708A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2597A>G	7.37:g.23827708A>G	ENSP00000348132:p.Glu866Gly					STK31_uc003swt.4_Missense_Mutation_p.E843G|STK31_uc011jze.2_Missense_Mutation_p.E866G|STK31_uc010kuq.3_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G	p.E866G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			20	2664	+			866			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2597A>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779747	0.49891	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.68624	-0.34;2.44;-0.34;-0.34	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115012	0.56097	D	0.000030	T	0.62171	0.2406	N	0.20574	0.59	0.38119	D	0.937797	P;P;P	0.51147	0.942;0.722;0.549	P;P;B	0.54759	0.76;0.506;0.425	T	0.62955	-0.6744	10	0.24483	T	0.36	-11.0181	11.7901	0.52065	0.8685:0.0:0.0:0.1315	.	866;866;866	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	G	866;866;843;843	ENSP00000348132:E866G;ENSP00000411852:E866G;ENSP00000346660:E843G;ENSP00000406146:E843G	ENSP00000346660:E843G	E	+	2	0	STK31	23794233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.293000	0.65680	2.275000	0.75901	0.528000	0.53228	GAA		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23827708	A	G	23827708	3	3	72	1	0	0	0	0	1	0	0	0	15295	246	9	4	2679	4	STK31	7	23827708	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		23827708	135310955	40	4764											
C7orf10	79783	broad.mit.edu	37	chr7	40356417	40356417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaaaaggaagcaaaacGttggggtacagctcatggca	14	7	13	7	1	2	0	2	0	0	0	2	1	2	1	0	5	4	5	0	5	6	2	rs192547523		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:40356417G>A	ENST00000335693.4	+	9	823	c.800G>A	c.(799-801)cGt>cAt	p.R267H	C7orf10_ENST00000401647.2_Missense_Mutation_p.R219H|C7orf10_ENST00000309930.5_Missense_Mutation_p.R267H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		267					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGCAAAACGTTGGGGTACA	0.388													G|||	1	0.000199681	0	0	5008	,	,		16694	0.001		0	False		,,,				2504	0					uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(799-801)cGt>cAt		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							77	77	77					7																	40356417		1874	4120	5994	SO:0001583	missense	79783						transferase activity	g.chr7:40356417G>A																												ENST00000335693.4:c.800G>A	7.37:g.40356417G>A	ENSP00000338475:p.Arg267His					C7orf10_uc003thn.2_Missense_Mutation_p.R267H|C7orf10_uc003tho.2_Missense_Mutation_p.R219H	p.R267H	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			8	824	+			267					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.800G>A	CCDS55105.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	16.56|16.56	3.156791|3.156791	0.57259|0.57259	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.60797|.	0.16;0.16;0.16|.	5.45|5.45	3.66|3.66	0.41972|0.41972	CoA-transferase family III domain (2);|.	0.050749|.	0.85682|.	D|.	0.000000|.	T|T	0.76176|0.76176	0.3951|0.3951	H|H	0.96208|0.96208	3.785|3.785	0.27632|0.27632	N|N	0.948005|0.948005	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	T|T	0.71031|0.71031	-0.4710|-0.4710	10|5	0.87932|.	D|.	0|.	-2.9633|-2.9633	9.8616|9.8616	0.41118|0.41118	0.1576:0.0:0.8424:0.0|0.1576:0.0:0.8424:0.0	.|.	219;267;230|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	H|I	267;219;267|262	ENSP00000312054:R267H;ENSP00000385222:R219H;ENSP00000338475:R267H|.	ENSP00000312054:R267H|.	R|V	+|+	2|1	0|0	C7orf10|C7orf10	40322942|40322942	0.991000|0.991000	0.36638|0.36638	0.017000|0.017000	0.16124|0.16124	0.838000|0.838000	0.47535|0.47535	4.917000|4.917000	0.63369|0.63369	0.787000|0.787000	0.33731|0.33731	0.557000|0.557000	0.71058|0.71058	CGT|GTT		0.388	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			A	40356417	G	A	40356417	3	1	72	1	0	0	0	0	1	0	0	0	2376	1145	40	1	723	1	C7orf10	7	40356417	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	16528709	40356417	118782246	41	4765											
MUC17	140453	broad.mit.edu	37	chr7	100679249	100679249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagcactgcattaacaAgtatacctgtcagcaccaca	16	7	7	11	0	1	0	1	0	0	0	1	1	1	1	2	1	5	4	2	1	6	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:100679249A>G	ENST00000306151.4	+	3	4616	c.4552A>G	c.(4552-4554)Agt>Ggt	p.S1518G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1518	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCATTAACAAGTATACCTGT	0.483																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4552-4554)Agt>Ggt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							228	207	214					7																	100679249		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679249A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4552A>G	7.37:g.100679249A>G	ENSP00000302716:p.Ser1518Gly					MUC17_uc010lho.1_Non-coding_Transcript	p.S1518G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	4605	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1518			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4552A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.167	-0.641985	0.03531	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	0.462	-0.704	0.11256	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.47142	-0.9140	8	0.32370	T	0.25	.	.	.	.	.	1518	Q685J3	MUC17_HUMAN	G	1518	ENSP00000302716:S1518G	ENSP00000302716:S1518G	S	+	1	0	MUC17	100465969	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.435000	0.02423	-0.295000	0.08960	0.102000	0.15555	AGT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679249	A	G	100679249	3	3	72	1	0	0	0	0	1	0	0	0	9974	72	3	4	4562	4	MUC17	7	100679249	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	60322832	100679249	58459414	42	4766											
KCNU1	157855	broad.mit.edu	37	chr8	36768588	36768588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatggcaaccctcaccatCggatccttgcaaattgactc	11	10	6	14	1	2	1	2	1	0	0	5	2	3	2	3	2	2	2	3	2	2	2	rs368687816		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:36768588C>T	ENST00000399881.3	+	22	2509	c.2472C>T	c.(2470-2472)atC>atT	p.I824I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	824					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTCACCATCGGATCCTTGC	0.512																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2470-2472)atC>atT		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.		C		0,4064		0,0,2032	87	89	88		2472	-5.9	0	8		88	1,8405		0,1,4202	no	coding-synonymous	KCNU1	NM_001031836.2		0,1,6234	TT,TC,CC		0.0119,0.0,0.0080		824/1150	36768588	1,12469	2032	4203	6235	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768588C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2472C>T	8.37:g.36768588C>T						KCNU1_uc003xjw.2_Non-coding_Transcript	p.I824I	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2559	+			824						Silent	SNP	ENST00000399881.3	37	c.2472C>T	CCDS55220.1																																																																																				0.512	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		T	36768588	C	T	36768588	2	4	72	1	0	0	0	0	0	0	0	1	8093	874	31	2		2	KCNU1	8	36768588	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08		36768588	109595434	43	4767											
ST18	9705	broad.mit.edu	37	chr8	53085003	53085003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacagtctgaacagataCatttttttcaaatttcccca	13	15	3	10	0	2	2	1	1	1	1	3	2	3	2	2	0	3	0	2	0	4	6			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:53085003C>T	ENST00000276480.7	-	10	1101	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	140					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAACAGATACATTTTTTTCA	0.383																																						uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(418-420)Gta>Ata		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							79	80	79					8																	53085003		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53085003C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.418G>A	8.37:g.53085003C>T	ENSP00000276480:p.Val140Ile					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I	p.V140I	NM_014682	NP_055497	O60284	ST18_HUMAN			4	574	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	140					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.418G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	2.870	-0.234274	0.05983	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45276	0.92;0.9	5.39	0.345	0.16011	.	0.820645	0.11278	N	0.580692	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.18713	-1.0328	10	0.56958	D	0.05	-0.2999	5.7594	0.18190	0.0:0.533:0.1235:0.3435	.	140	O60284	ST18_HUMAN	I	140	ENSP00000276480:V140I;ENSP00000428521:V140I	ENSP00000276480:V140I	V	-	1	0	ST18	53247556	0.620000	0.27068	0.000000	0.03702	0.136000	0.21042	0.478000	0.22212	0.029000	0.15352	-0.136000	0.14681	GTA		0.383	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53085003	C	T	53085003	3	4	72	1	0	0	0	0	1	0	0	0	15211	478	17	3	2793	3	ST18	8	53085003	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	16316415	53085003	93279019	44	4768											
NSMAF	8439	broad.mit.edu	37	chr8	59548070	59548070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctggttcaaaaatcaccGattttgaacatatttttaag	15	15	5	6	1	3	1	2	1	1	0	3	2	3	1	1	1	1	1	1	1	6	7	rs35436008		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:59548070G>A	ENST00000038176.3	-	3	397	c.185C>T	c.(184-186)tCg>tTg	p.S62L	NSMAF_ENST00000427130.2_Missense_Mutation_p.S93L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	62					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAAAATCACCGATTTTGAACA	0.323																																						uc011lee.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(277-279)tCg>tTg		Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.							86	97	93					8																	59548070		2203	4298	6501	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59548070G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.185C>T	8.37:g.59548070G>A	ENSP00000038176:p.Ser62Leu					NSMAF_uc003xtt.3_Missense_Mutation_p.S62L	p.S93L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN			2	339	-		all_lung(136;0.174)|Lung NSC(129;0.2)	62					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.278C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581489	0.86748	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.62105	0.07;0.05	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.84846	2.72	0.47994	D	0.999563	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.995	D	0.83383	0.0013	9	.	.	.	.	17.3541	0.87331	0.0:0.0:1.0:0.0	.	93;62;62	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	L	62;93	ENSP00000038176:S62L;ENSP00000411012:S93L	.	S	-	2	0	NSMAF	59710624	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.754000	0.74909	2.525000	0.85131	0.585000	0.79938	TCG		0.323	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		A	59548070	G	A	59548070	3	1	72	1	0	0	0	0	1	0	0	0	10674	1059	37	2	2684	2	NSMAF	8	59548070	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6463067	59548070	86815952	45	4769											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744273	70744273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatgaagtgaggtaaggcGaagagggctgccccgaaggc	12	4	18	7	2	0	4	0	2	0	2	0	7	0	4	2	4	1	2	2	4	4	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:70744273G>A	ENST00000260126.4	-	2	1342	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.F212F|SLCO5A1_ENST00000530307.1_Silent_p.F212F|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGGTAAGGCGAAGAGGGCTG	0.662																																						uc003xyl.3																			0		p.L211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(634-636)ttC>ttT		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							21	25	24					8																	70744273		2202	4299	6501	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744273G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.636C>T	8.37:g.70744273G>A						SLCO5A1_uc010lzb.3_Silent_p.F212F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F	p.F212F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		1	1343	-	Breast(64;0.0654)		212					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.636C>T	CCDS6205.1																																																																																				0.662	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		A	70744273	G	A	70744273	2	1	72	1	0	0	0	0	0	0	0	1	14731	1049	37	2		2	SLCO5A1	8	70744273	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	11196203	70744273	75619749	46	4770											
ASAP1	50807	broad.mit.edu	37	chr8	131414154	131414154	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatagtgaatctctcgaCgaaaaactggagagcctgga	13	9	10	9	2	1	2	0	1	1	1	4	6	2	3	2	2	2	0	2	2	4	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:131414154C>A	ENST00000518721.1	-	2	263	c.36G>T	c.(34-36)tcG>tcT	p.S12S	ASAP1_ENST00000520625.1_5'UTR|ASAP1_ENST00000357668.1_Silent_p.S12S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	12					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATCTCTCGACGAAAAACTGG	0.502																																						uc003yta.2																			0		p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(34-36)tcG>tcT		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							77	75	75					8																	131414154		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131414154C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.36G>T	8.37:g.131414154C>A						ASAP1_uc011liw.2_5'UTR	p.S12S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			1	264	-			12					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.36G>T	CCDS6362.1																																																																																				0.502	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		A	131414154	C	A	131414154	2	1	72	1	0	0	0	0	0	0	0	1	1010	523	19	5		5	ASAP1	8	131414154	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	60669881	131414154	14949868	47	4771											
SLC45A4	57210	broad.mit.edu	37	chr8	142231734	142231734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacgccaacgcagagggcGaggatgaagggccgccggcg	10	1	19	11	6	0	2	0	1	0	1	0	5	0	4	3	5	1	1	3	5	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:142231734G>A	ENST00000024061.3	-	2	526	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SLC45A4_ENST00000433583.2_Silent_p.L66L|SLC45A4_ENST00000519067.1_Silent_p.L73L|SLC45A4_ENST00000517878.1_Silent_p.L124L	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCAGAGGGCGAGGATGAAGG	0.612																																						uc003ywd.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(217-219)ctC>ctT		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							74	81	79					8																	142231734		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231734G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.219C>T	8.37:g.142231734G>A						SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	p.L73L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		1	527	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		124					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.219C>T	CCDS34948.1																																																																																				0.612	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142231734	G	A	142231734	2	1	72	1	0	0	0	0	0	0	0	1	14643	1045	37	2		2	SLC45A4	8	142231734	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	10817580	142231734	4132288	48	4772											
LRRC14	9684	broad.mit.edu	37	chr8	145746502	145746502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatctggagctgactgaGtgtcagctcgcagacaccca	9	9	11	12	1	2	3	1	2	1	1	3	4	2	4	1	1	3	4	1	1	0	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:145746502G>C	ENST00000292524.1	+	4	1268	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	LRRC14_ENST00000529022.1_Missense_Mutation_p.E374D	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	374										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCTGACTGAGTGTCAGCTCG	0.597																																						uc003zdk.2																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(1120-1122)gaG>gaC		Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.							70	60	63					8																	145746502		2203	4299	6502	SO:0001583	missense	9684							g.chr8:145746502G>C	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1122G>C	8.37:g.145746502G>C	ENSP00000292524:p.Glu374Asp					LRRC14_uc003zdl.2_Missense_Mutation_p.E374D	p.E374D	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1296	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		374					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1122G>C	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744199	0.30865	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.51325	0.71;0.71	4.69	2.88	0.33553	.	0.119627	0.56097	D	0.000028	T	0.42698	0.1214	L	0.38838	1.175	0.31169	N	0.703419	D	0.62365	0.991	P	0.53593	0.73	T	0.41574	-0.9501	10	0.15066	T	0.55	.	7.9078	0.29771	0.091:0.1633:0.7457:0.0	.	374	Q15048	LRC14_HUMAN	D	374	ENSP00000434768:E374D;ENSP00000292524:E374D	ENSP00000292524:E374D	E	+	3	2	LRRC14	145717310	1.000000	0.71417	0.560000	0.28344	0.017000	0.09413	1.403000	0.34612	0.577000	0.29470	0.563000	0.77884	GAG		0.597	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		C	145746502	G	C	145746502	3	2	72	1	0	0	0	0	1	0	0	0	8968	1020	36	5	1132	5	LRRC14	8	145746502	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3514768	145746502	617520	49	4773											
GDA	9615	broad.mit.edu	37	chr9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggaaagcaggtggttcCgttttccagctcagtgtaag	8	10	15	8	2	1	0	1	0	0	0	3	1	3	1	2	4	2	5	2	4	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:74863239C>T	ENST00000358399.3	+	14	1439	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_ENST00000545168.1_Missense_Mutation_p.P375L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L|GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000376986.1_Missense_Mutation_p.P371L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	449					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.P449Q(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443																																						uc004air.3																			2	Substitution - Missense(2)	p.P449Q(3)	lung(2)	central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(1345-1347)cCg>cTg		Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.							121	121	121					9																	74863239		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74863239C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1346C>T	9.37:g.74863239C>T	ENSP00000351170:p.Pro449Leu					GDA_uc011lse.2_Missense_Mutation_p.P375L|GDA_uc004aiq.3_Missense_Mutation_p.P449L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375L|GDA_uc004ais.3_Missense_Mutation_p.P371L	p.P449L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	13	1555	+		Myeloproliferative disorder(762;0.0122)	449					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1346C>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777760	0.90195	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.979;0.997;0.996	B;P;P	0.54312	0.406;0.748;0.565	T	0.61342	-0.7082	9	0.32370	T	0.25	-15.3957	17.0254	0.86444	0.0:1.0:0.0:0.0	.	371;449;449	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	L	375;449;388;371;449;157	.	ENSP00000238018:P449L	P	+	2	0	GDA	74053059	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.043000	0.71004	2.756000	0.94617	0.563000	0.77884	CCG		0.443	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			T	74863239	C	T	74863239	3	4	72	1	0	0	0	0	1	0	0	0	6306	652	23	2	1400	2	GDA	9	74863239	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		74863239	66350192	50	4774											
OR13C3	138803	broad.mit.edu	37	chr9	107298585	107298585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaagccatcaatacataCgccaccttgctcaggatgat	14	8	7	12	1	2	2	2	1	0	1	2	3	2	3	3	1	4	1	3	1	4	3	rs200973865		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:107298585C>T	ENST00000374781.2	-	1	552	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAATACATACGCCACCTTGC	0.468																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(508-510)gcG>gcA		Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.							184	172	176					9																	107298585		2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298585C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.510G>A	9.37:g.107298585C>T							p.A170A	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			0	510	-			170					Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.510G>A	CCDS35089.1																																																																																				0.468	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			T	107298585	C	T	107298585	2	4	72	1	0	0	0	0	0	0	0	1	10935	523	19	1		1	OR13C3	9	107298585	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	32435346	107298585	33914846	51	4775											
SVIL	6840	broad.mit.edu	37	chr10	29776136	29776136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactctcctacccacaggaAgcagcagtggggagagagca	14	4	12	11	0	1	1	0	0	1	1	2	4	1	3	2	3	5	3	2	3	3	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:29776136A>G	ENST00000355867.4	-	24	5193	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	SVIL_ENST00000375398.2_Missense_Mutation_p.F1481L|SVIL_ENST00000535393.1_Missense_Mutation_p.F395L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1055L|SVIL_ENST00000538146.1_Missense_Mutation_p.F273L|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1481	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCACAGGAAGCAGCAGTGG	0.517																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4441-4443)Ttc>Ctc		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							66	61	63					10																	29776136		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29776136A>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4441T>C	10.37:g.29776136A>G	ENSP00000348128:p.Phe1481Leu					LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L	p.F1481L	NM_021738	NP_068506	O95425	SVIL_HUMAN			23	5194	-		Breast(68;0.103)	1481			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4441T>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	34	5.403338	0.96051	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.45	4.45	0.53987	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.83118	2.625	0.80722	D	1	P;P;P;P	0.45634	0.846;0.739;0.863;0.771	P;B;P;P	0.54026	0.452;0.387;0.729;0.74	T	0.59273	-0.7485	10	0.62326	D	0.03	-23.002	13.9553	0.64144	1.0:0.0:0.0:0.0	.	395;273;1055;1481	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	1055;1481;1481;395;435;273	ENSP00000364549:F1055L;ENSP00000364547:F1481L;ENSP00000348128:F1481L;ENSP00000445472:F395L;ENSP00000440343:F273L	ENSP00000348128:F1481L	F	-	1	0	SVIL	29816142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.005000	0.93587	1.877000	0.54381	0.397000	0.26171	TTC		0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29776136	A	G	29776136	3	3	72	1	0	0	0	0	1	0	0	0	15418	72	3	4	2263	4	SVIL	10	29776136	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		29776136	105758611	52	4776											
C10orf71	118461	broad.mit.edu	37	chr10	50532018	50532018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccaggacagctaaaCggataccaagagaaggagcc	15	3	10	13	1	1	1	1	0	0	1	1	5	1	4	4	3	4	1	4	3	5	2	rs374214345		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:50532018C>T	ENST00000374144.3	+	3	1716	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_ENST00000323868.4_Silent_p.N476N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572																																						uc021pqb.1																			0				endometrium(1)	1						c.(1426-1428)aaC>aaT		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.		C	,	1,4147		0,1,2073	33	36	35		1428,1428	-11.1	0.1	10		35	1,8431		0,1,4215	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,2,6288	TT,TC,CC		0.0119,0.0241,0.0159	,	476/1436,476/720	50532018	2,12578	2074	4216	6290	SO:0001819	synonymous_variant	118461							g.chr10:50532018C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1428C>T	10.37:g.50532018C>T						C10orf71_uc021pqa.1_Silent_p.N475N|C10orf71_uc021pqc.1_Silent_p.N476N	p.N476N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN			0	1428	+			476					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.1428C>T	CCDS44387.1																																																																																				0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50532018	C	T	50532018	2	4	72	1	0	0	0	0	0	0	0	1	1614	535	19	1		1	C10orf71	10	50532018	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	20755882	50532018	85002729	53	4777											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							155	133	141					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717672	C	T	89717672	4	4	72	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	39185654	89717672	45817075	54	4778											
MICAL2	9645	broad.mit.edu	37	chr11	12244171	12244171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccctccagggaaagtCtctaccggctgttacctcag	7	9	9	16	2	2	0	1	0	1	0	5	1	4	1	5	2	2	2	5	2	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:12244171C>A	ENST00000256194.4	+	11	1618	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	MICAL2_ENST00000537344.1_Missense_Mutation_p.L444I|MICAL2_ENST00000527546.1_Missense_Mutation_p.L444I|MICAL2_ENST00000379612.3_Missense_Mutation_p.L444I|MICAL2_ENST00000342902.5_Missense_Mutation_p.L444I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	444	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGGAAAGTCTCTACCGGCT	0.567																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1330-1332)Ctc>Atc		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							76	62	67					11																	12244171		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12244171C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1330C>A	11.37:g.12244171C>A	ENSP00000256194:p.Leu444Ile					MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.3_Missense_Mutation_p.L444I|MICAL2_uc010rci.2_Missense_Mutation_p.L444I|MICAL2_uc001mkb.3_Missense_Mutation_p.L444I|MICAL2_uc001mkc.3_Missense_Mutation_p.L444I|MICAL2_uc001mkd.3_Missense_Mutation_p.L273I|MICAL2_uc010rcj.2_5'UTR	p.L444I	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	10	1618	+			444					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1330C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	6.700	0.497783	0.12762	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.98	4.98	0.66077	Calponin homology domain (1);	0.066172	0.56097	D	0.000024	T	0.30103	0.0754	N	0.03029	-0.43	0.47659	D	0.999485	B;B;B;B;B	0.14438	0.01;0.004;0.0;0.003;0.001	B;B;B;B;B	0.28991	0.097;0.045;0.01;0.014;0.01	T	0.26326	-1.0106	10	0.02654	T	1	.	11.4937	0.50396	0.2907:0.7093:0.0:0.0	.	444;444;444;444;444	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	I	444	ENSP00000441689:L444I;ENSP00000256194:L444I;ENSP00000433965:L444I;ENSP00000344894:L444I;ENSP00000368932:L444I	ENSP00000256194:L444I	L	+	1	0	MICAL2	12200747	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.387000	0.52501	2.746000	0.94184	0.655000	0.94253	CTC		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12244171	C	A	12244171	3	1	72	1	0	0	0	0	1	0	0	0	9570	913	32	5	1364	5	MICAL2	11	12244171	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		12244171	122762345	55	4779											
OR5M10	390167	broad.mit.edu	37	chr11	56344526	56344526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaacggatcctgaagatCgctgcaaaaatgaaaagata	18	6	10	7	2	0	5	0	2	0	3	2	6	1	6	1	1	2	3	1	1	7	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:56344526C>T	ENST00000526812.2	-	1	737	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGAAGATCGCTGCAAAAA	0.443																																						uc001niz.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(670-672)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.							46	46	46					11																	56344526		1847	4077	5924	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344526C>T	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.672G>A	11.37:g.56344526C>T						OR8U8_uc001nit.2_Intron	p.A224A	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			0	672	-			224					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.672G>A	CCDS53630.1																																																																																				0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		T	56344526	C	T	56344526	2	4	72	1	0	0	0	0	0	0	0	1	11173	871	31	2		2	OR5M10	11	56344526	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	44100355	56344526	78661990	56	4780											
SLC22A10	387775	broad.mit.edu	37	chr11	63072232	63072232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcttgatgaccttaaCggtattttttaccactttgc	7	17	5	12	1	1	2	0	2	1	0	2	2	2	2	4	1	3	1	4	1	3	7	rs193006130	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:63072232C>T	ENST00000332793.6	+	9	1471	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	490						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ATGACCTTAACGGTATTTTTT	0.423													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19278	0		0	False		,,,				2504	0					uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1468-1470)aCg>aTg		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.			MET/THR	13,3749		0,13,1868	169	153	158		1469	-5.4	0	11		158	0,8220		0,0,4110	yes	missense	SLC22A10	NM_001039752.3	81	0,13,5978	TT,TC,CC		0.0,0.3456,0.1085	benign	490/542	63072232	13,11969	1881	4110	5991	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63072232C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1469C>T	11.37:g.63072232C>T	ENSP00000327569:p.Thr490Met					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	p.T490M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			8	1677	+			490					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1469C>T	CCDS41661.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	4.965	0.179179	0.09443	0.003456	0.0	ENSG00000184999	ENST00000332793	T	0.72942	-0.7	2.72	-5.44	0.02624	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775582	0.10861	N	0.626120	T	0.46210	0.1381	L	0.28556	0.865	0.09310	N	1	B	0.29646	0.253	B	0.26693	0.072	T	0.29058	-1.0024	10	0.41790	T	0.15	.	0.7522	0.00992	0.2564:0.1893:0.1275:0.4268	.	490	Q63ZE4	S22AA_HUMAN	M	490	ENSP00000327569:T490M	ENSP00000327569:T490M	T	+	2	0	SLC22A10	62828808	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.190000	0.00277	-1.515000	0.01784	-0.313000	0.08912	ACG		0.423	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		T	63072232	C	T	63072232	3	4	72	1	0	0	0	0	1	0	0	0	14441	536	19	1	1503	1	SLC22A10	11	63072232	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	6727706	63072232	71934284	57	4781											
GRM5	2915	broad.mit.edu	37	chr11	88242179	88242179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcatcatggagttgagctCgctgatgttggccgtgaagc	8	10	14	9	2	1	3	1	3	0	0	2	4	1	4	1	2	3	5	1	2	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:88242179C>G	ENST00000305447.4	-	9	3369	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q	GRM5_ENST00000305432.5_Missense_Mutation_p.E1042Q|GRM5_ENST00000418177.2_Missense_Mutation_p.E1074Q|GRM5_ENST00000455756.2_Missense_Mutation_p.E1042Q|GRM5-AS1_ENST00000531994.1_RNA|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1074					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAGTTGAGCTCGCTGATGTTG	0.667																																						uc001pcq.3																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(3220-3222)Gag>Cag		Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	Acamprosate(DB00659)						15	18	17					11																	88242179		2191	4281	6472	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242179C>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3220G>C	11.37:g.88242179C>G	ENSP00000306138:p.Glu1074Gln					GRM5_uc009yvm.3_Missense_Mutation_p.E1042Q	p.E1074Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			8	3420	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	1074					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.3220G>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101005	0.94245	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.92249	-2.84;-3.0;-3.0;-2.84	4.72	4.72	0.59763	.	0.057273	0.64402	D	0.000002	D	0.93000	0.7772	L	0.32530	0.975	0.47737	D	0.999503	D;D	0.67145	0.996;0.994	D;D	0.65874	0.939;0.934	D	0.92307	0.5854	9	.	.	.	.	17.6681	0.88209	0.0:1.0:0.0:0.0	.	1042;1074	P41594-2;P41594	.;GRM5_HUMAN	Q	1074;1042;1042;1074	ENSP00000402912:E1074Q;ENSP00000405690:E1042Q;ENSP00000305905:E1042Q;ENSP00000306138:E1074Q	.	E	-	1	0	GRM5	87881827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.875000	0.75551	2.141000	0.66446	0.563000	0.77884	GAG		0.667	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		G	88242179	C	G	88242179	3	3	72	1	0	0	0	0	1	0	0	0	6800	893	31	5	422	5	GRM5	11	88242179	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	25169947	88242179	46764337	58	4782											
MAML2	84441	broad.mit.edu	37	chr11	96075000	96075000	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccctccaaggagcccCgccccagaggccccccctag	7	2	10	22	1	0	1	0	0	0	1	1	3	1	2	10	2	2	0	10	2	2	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:96075000C>G	ENST00000524717.1	-	1	1344	c.60G>C	c.(58-60)gcG>gcC	p.A20A	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	20					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAGGAGCCCCGCCCCAGAGG	0.682			T	"MECT1, CRTC3"	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(58-60)gcG>gcC		Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.							6	7	6					11																	96075000		1778	3990	5768	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:96075000C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.60G>C	11.37:g.96075000C>G			OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317		p.A20A	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			0	1345	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	20					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.60G>C	CCDS44714.1																																																																																				0.682	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			G	96075000	C	G	96075000	2	3	72	1	0	0	0	0	0	0	0	1	9206	639	23	5		5	MAML2	11	96075000	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	7832821	96075000	38931516	59	4783											
PGR	5241	broad.mit.edu	37	chr11	100996783	100996783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacagctcccacaggtaaGgacaccataatgacagcctg	13	7	8	13	0	0	1	0	1	0	0	1	2	1	2	3	2	3	2	3	2	3	3	rs144880156		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:100996783G>A	ENST00000325455.5	-	2	3197	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	PGR_ENST00000263463.5_Missense_Mutation_p.L582F|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	582					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCACAGGTAAGGACACCATAA	0.443																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1744-1746)Ctt>Ttt		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	G	PHE/LEU,PHE/LEU	0,4406		0,0,2203	104	89	94		1744,1252	5.4	1	11	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PGR	NM_000926.4,NM_001202474.1	22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	582/934,418/770	100996783	1,13005	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100996783G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1744C>T	11.37:g.100996783G>A	ENSP00000325120:p.Leu582Phe					PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	p.L582F	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2487	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	582					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1744C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136579	0.77662	0.0	1.16E-4	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	D;D	0.96619	-4.07;-4.07	5.4	5.4	0.78164	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	L	0.37561	1.115	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97796	1.0241	10	0.62326	D	0.03	.	19.1896	0.93660	0.0:0.0:1.0:0.0	.	582;582	Q8TDS3;P06401	.;PRGR_HUMAN	F	582	ENSP00000325120:L582F;ENSP00000263463:L582F	ENSP00000263463:L582F	L	-	1	0	PGR	100501993	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.522000	0.67092	2.519000	0.84933	0.655000	0.94253	CTT		0.443	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			A	100996783	G	A	100996783	3	1	72	1	0	0	0	0	1	0	0	0	11805	1000	35	3	1085	3	PGR	11	100996783	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	4921783	100996783	34009733	60	4784											
ELMOD1	55531	broad.mit.edu	37	chr11	107501263	107501263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgttataataccaagccGggagcttctagaaccatgaa	14	10	8	9	1	2	2	0	1	2	1	2	3	2	3	3	1	4	2	3	1	7	5	rs192561252		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:107501263G>A	ENST00000265840.7	+	3	403	c.138G>A	c.(136-138)ccG>ccA	p.P46P	ELMOD1_ENST00000443271.2_Silent_p.P46P|ELMOD1_ENST00000531234.1_Silent_p.P40P	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	46					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATACCAAGCCGGGAGCTTCTA	0.398													G|||	1	0.000199681	0	0	5008	,	,		17984	0		0.001	False		,,,				2504	0					uc010rvs.2																			0		p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(136-138)ccG>ccA		Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.		G	,	0,3708		0,0,1854	61	57	58		138,138	-8.4	1	11		58	5,8177		0,5,4086	no	coding-synonymous,coding-synonymous	ELMOD1	NM_001130037.1,NM_018712.3	,	0,5,5940	AA,AG,GG		0.0611,0.0,0.0421	,	46/327,46/335	107501263	5,11885	1854	4091	5945	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501263G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.138G>A	11.37:g.107501263G>A						ELMOD1_uc001pjm.3_Silent_p.P46P|ELMOD1_uc010rvt.2_Silent_p.P40P	p.P46P	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	2	542	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	46					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.138G>A	CCDS44723.1																																																																																				0.398	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		A	107501263	G	A	107501263	2	1	72	1	0	0	0	0	0	0	0	1	5068	1103	39	2		2	ELMOD1	11	107501263	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	6504480	107501263	27505253	61	4785											
C11orf65	160140	broad.mit.edu	37	chr11	108302504	108302504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatatttcactatctgaCgtggttctccttgtcttctt	7	20	5	9	1	5	1	1	1	4	0	6	1	5	1	1	1	0	1	1	1	4	9			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:108302504C>T	ENST00000529391.1	-	2	152	c.143G>A	c.(142-144)cGt>cAt	p.R48H	C11orf65_ENST00000393084.1_Missense_Mutation_p.R48H|C11orf65_ENST00000525729.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CACTATCTGACGTGGTTCTCC	0.303																																						uc001pkh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(142-144)cGt>cAt		Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.							176	179	178					11																	108302504		2201	4295	6496	SO:0001583	missense	160140							g.chr11:108302504C>T	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.143G>A	11.37:g.108302504C>T	ENSP00000436400:p.Arg48His					C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	p.R48H	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	213	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	48					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.143G>A	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938717	0.18206	.	.	ENSG00000166323	ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.31769	1.48;1.48;1.48	5.73	0.641	0.17759	.	0.231873	0.35970	N	0.002878	T	0.23727	0.0574	L	0.45581	1.43	0.32977	D	0.523195	B	0.12630	0.006	B	0.11329	0.006	T	0.15665	-1.0429	10	0.44086	T	0.13	-2.4624	8.7371	0.34534	0.0:0.6092:0.0:0.3908	.	48	Q8NCR3	CK065_HUMAN	H	48	ENSP00000436400:R48H;ENSP00000376799:R48H;ENSP00000434500:R48H	ENSP00000376799:R48H	R	-	2	0	C11orf65	107807714	0.045000	0.20229	0.969000	0.41365	0.292000	0.27327	-1.361000	0.02597	0.093000	0.17368	-0.827000	0.03088	CGT		0.303	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		T	108302504	C	T	108302504	3	4	72	1	0	0	0	0	1	0	0	0	1655	536	19	1	826	1	C11orf65	11	108302504	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	801241	108302504	26704012	62	4786											
NTF3	4908	broad.mit.edu	37	chr12	5603799	5603799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacggcggaaacggtacgCggagcataagagtcaccgag	13	4	14	10	6	2	1	2	0	0	1	2	4	2	3	1	4	3	2	1	4	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:5603799C>T	ENST00000331010.6	+	1	502	c.419C>T	c.(418-420)gCg>gTg	p.A140V	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.A153V	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	140					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AAACGGTACGCGGAGCATAAG	0.602																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(418-420)gCg>gTg		Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.							89	84	86					12																	5603799		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603799C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.419C>T	12.37:g.5603799C>T	ENSP00000328738:p.Ala140Val					NTF3_uc001qnk.4_Missense_Mutation_p.A153V	p.A140V	NM_002527	NP_002518	P20783	NTF3_HUMAN			0	502	+			140					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.419C>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082061	0.55861	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.69435	-0.4;-0.4	5.52	5.52	0.82312	.	0.184965	0.47093	D	0.000259	T	0.72203	0.3431	M	0.86864	2.845	0.53005	D	0.999961	B;B	0.28208	0.203;0.203	B;B	0.17098	0.011;0.017	T	0.74303	-0.3709	10	0.72032	D	0.01	-11.2617	18.4188	0.90582	0.0:1.0:0.0:0.0	.	140;153	P20783;B7Z1T5	NTF3_HUMAN;.	V	153;140	ENSP00000397297:A153V;ENSP00000328738:A140V	ENSP00000328738:A140V	A	+	2	0	NTF3	5474060	0.976000	0.34144	0.997000	0.53966	0.961000	0.63080	4.946000	0.63576	2.610000	0.88304	0.591000	0.81541	GCG		0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			T	5603799	C	T	5603799	3	4	72	1	0	0	0	0	1	0	0	0	10696	768	27	1	464	1	NTF3	12	5603799	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5603799	128248096	63	4787											
LEPREL2	2784	broad.mit.edu	37	chr12	6946946	6946946	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagtgcacgcagacaacTgcgtcctggaccctgacacg	10	5	10	16	3	0	2	0	1	0	1	1	3	1	3	3	1	3	2	3	1	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:6946946T>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGCAGACAACTGCGTCCTGGA	0.642																																						uc001qra.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1759-1761)Tgc>Agc		Homo sapiens leprecan-like 2 (LEPREL2), mRNA.							33	41	38					12																	6946946		2113	4237	6350	SO:0001631	upstream_gene_variant	10536					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6946946T>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946946T>A	Exception_encountered					GPR162_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	p.C587S	NM_014262	NP_055077	Q16538	GP162_HUMAN			12	1793	+			0					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1759T>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841253	0.91197	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.71698	-0.59;-0.59	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86694	0.1925	9	0.87932	D	0	-11.5414	14.3201	0.66479	0.0:0.0:0.0:1.0	.	588	Q8IVL6	P3H3_HUMAN	S	587;403	ENSP00000379951:C587S;ENSP00000290510:C403S	ENSP00000290510:C403S	C	+	1	0	LEPREL2	6817207	1.000000	0.71417	0.990000	0.47175	0.959000	0.62525	7.525000	0.81892	1.971000	0.57363	0.459000	0.35465	TGC		0.642	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		A	6946946	T	A	6946946	1	1	72	0	1	0	0	0	0	0	0	0	8731	1580	55	5		5	LEPREL2	12	6946946	5'Flank	SNP	T	TCGA-06-0939-01A-01D-1353-08	1343147	6946946	126904949	64	4788											
CCDC91	55297	broad.mit.edu	37	chr12	28459762	28459762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatggaacaattgcccttGtggatgattctgaggatcct	10	13	11	7	0	1	2	0	2	1	0	2	5	2	5	2	3	2	1	2	3	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:28459762G>A	ENST00000545336.1	+	8	774	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CCDC91_ENST00000306172.5_Missense_Mutation_p.V89M|CCDC91_ENST00000539107.1_Missense_Mutation_p.V119M|CCDC91_ENST00000381259.1_Missense_Mutation_p.V119M|CCDC91_ENST00000381256.1_Missense_Mutation_p.V119M|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	119					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATTGCCCTTGTGGATGATTC	0.358																																						uc001riq.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(355-357)Gtg>Atg		Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.							95	99	98					12																	28459762		2202	4300	6502	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459762G>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.355G>A	12.37:g.28459762G>A	ENSP00000438040:p.Val119Met					CCDC91_uc001rio.3_Missense_Mutation_p.V89M|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc009zjl.3_5'UTR	p.V119M	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			3	369	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		119					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.355G>A	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766198	0.49574	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.49;1.48;1.49;1.48;1.49	5.79	4.9	0.64082	.	0.626859	0.14866	N	0.293835	T	0.23171	0.0560	N	0.08118	0	0.22266	N	0.999243	P;B	0.47191	0.891;0.015	P;B	0.48141	0.568;0.022	T	0.07121	-1.0789	10	0.54805	T	0.06	-0.332	10.6785	0.45799	0.0879:0.0:0.9121:0.0	.	119;89	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	M	119;119;119;119;119;119;89	ENSP00000440513:V119M;ENSP00000445660:V119M;ENSP00000438040:V119M;ENSP00000442544:V119M;ENSP00000370658:V119M;ENSP00000370655:V119M;ENSP00000305075:V89M	ENSP00000305075:V89M	V	+	1	0	CCDC91	28351029	0.995000	0.38212	0.975000	0.42487	0.990000	0.78478	3.720000	0.54933	1.441000	0.47550	0.650000	0.86243	GTG		0.358	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		A	28459762	G	A	28459762	3	1	72	1	0	0	0	0	1	0	0	0	2870	1377	48	3	369	3	CCDC91	12	28459762	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	21512816	28459762	105392133	65	4789											
SP7	121340	broad.mit.edu	37	chr12	53722081	53722081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggccactgggagggggaCccgggcctggttctccatgg	4	7	19	11	1	1	0	0	0	1	0	2	2	1	2	4	8	0	1	4	8	0	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:53722081C>G	ENST00000536324.2	-	3	1428	c.1145G>C	c.(1144-1146)gGt>gCt	p.G382A	SP7_ENST00000537210.2_Missense_Mutation_p.G364A|SP7_ENST00000303846.3_Missense_Mutation_p.G382A	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	382					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sct.3																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(1144-1146)gGt>gCt		Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.							27	33	31					12																	53722081		2017	4164	6181	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722081C>G	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.1145G>C	12.37:g.53722081C>G	ENSP00000443827:p.Gly382Ala		OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	SP7_uc001scv.3_Missense_Mutation_p.G382A|SP7_uc001scu.3_Missense_Mutation_p.G364A	p.G382A	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			1	1252	-			382					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.1145G>C	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	6.053	0.378029	0.11466	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210	T;T;T	0.07327	3.2;3.2;3.21	4.66	3.68	0.42216	.	0.162787	0.37577	N	0.002024	T	0.04497	0.0123	N	0.17379	0.485	0.09310	N	1	B	0.30914	0.3	B	0.23275	0.045	T	0.34625	-0.9821	10	0.41790	T	0.15	.	7.6306	0.28236	0.0:0.7383:0.1693:0.0924	.	382	Q8TDD2	SP7_HUMAN	A	382;382;364	ENSP00000443827:G382A;ENSP00000302812:G382A;ENSP00000441367:G364A	ENSP00000302812:G382A	G	-	2	0	SP7	52008348	0.256000	0.24012	0.106000	0.21319	0.194000	0.23727	3.266000	0.51569	2.509000	0.84616	0.561000	0.74099	GGT		0.672	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			G	53722081	C	G	53722081	3	3	72	1	0	0	0	0	1	0	0	0	14969	507	18	5	154	5	SP7	12	53722081	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	25262319	53722081	80129814	66	4790											
KSR2	283455	broad.mit.edu	37	chr12	117977618	117977618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggagggggggtgctggCgaggagggcgtggaggacgt	6	4	27	4	3	0	0	0	0	0	0	0	6	0	5	0	10	1	1	0	10	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:117977618C>T	ENST00000339824.5	-	10	2320	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.S228S|KSR2_ENST00000425217.1_Silent_p.S502S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	531	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGCTGGCGAGGAGGGCG	0.627																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1504-1506)tcG>tcA		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							80	98	92					12																	117977618		2141	4233	6374	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977618C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1593G>A	12.37:g.117977618C>T							p.S502S	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			9	1561	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		531					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1506G>A																																																																																					0.627	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	117977618	C	T	117977618	2	4	72	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	117977618	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	64255537	117977618	15874277	67	4791											
FLT1	2321	broad.mit.edu	37	chr13	28971149	28971149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccaactttattggaagcTatgcaaatgtagattccaga	13	12	8	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	3	2	1	6	6			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:28971149T>C	ENST00000282397.4	-	12	1859	c.1608A>G	c.(1606-1608)atA>atG	p.I536M	FLT1_ENST00000541932.1_Missense_Mutation_p.I536M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	536	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATTGGAAGCTATGCAAATGT	0.413																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1606-1608)atA>atG		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						131	120	123					13																	28971149		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28971149T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1608A>G	13.37:g.28971149T>C	ENSP00000282397:p.Ile536Met					FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I19M	p.I536M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	11	1893	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	536			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1608A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634457	0.29068	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.36520	1.25;2.73	5.87	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.424747	0.26931	N	0.021774	T	0.20047	0.0482	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.003	B;B;B	0.17722	0.019;0.019;0.007	T	0.05419	-1.0886	10	0.30078	T	0.28	.	11.3656	0.49671	0.0:0.8529:0.0:0.1471	.	536;536;536	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	M	536	ENSP00000282397:I536M;ENSP00000437631:I536M	ENSP00000282397:I536M	I	-	3	3	FLT1	27869149	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.904000	0.39868	1.463000	0.47967	-0.242000	0.12053	ATA		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			C	28971149	T	C	28971149	3	2	72	1	0	0	0	0	1	0	0	0	5941	1512	53	4	2669	4	FLT1	13	28971149	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08		28971149	86198729	68	4792											
BRCA2	675	broad.mit.edu	37	chr13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacataatttcattgagcGcaaatatatctgaaacttct	14	14	5	8	1	3	3	1	3	2	0	3	3	3	3	0	0	2	1	0	0	5	6	rs80359052		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:32937431G>A	ENST00000380152.3	+	18	8325	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2698T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2698					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G|||	0	0	0	0	5008	,	,		17595	0		0	False		,,,				2504	0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		1	Deletion - Frameshift(1)	p.S2697fs*31(2)	ovary(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8092-8094)Gca>Aca	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							102	100	101					13																	32937431		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937431G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8092G>A	13.37:g.32937431G>A	ENSP00000369497:p.Ala2698Thr	TCGA Ovarian(8;0.087)					p.A2698T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	17	8319	+		Lung SC(185;0.0262)	2698					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8092G>A	CCDS9344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.016	-1.538764	0.00942	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79845	-1.31;-1.31	5.38	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.318221	0.34932	N	0.003566	T	0.41119	0.1145	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47935	-0.9078	10	0.02654	T	1	.	5.0883	0.14694	0.7144:0.0:0.1519:0.1337	.	2698	P51587	BRCA2_HUMAN	T	2698	ENSP00000369497:A2698T;ENSP00000439902:A2698T	ENSP00000369497:A2698T	A	+	1	0	BRCA2	31835431	0.000000	0.05858	0.006000	0.13384	0.360000	0.29518	-0.074000	0.11450	0.368000	0.24481	-0.373000	0.07131	GCA		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32937431	G	A	32937431	3	1	72	1	0	0	0	0	1	0	0	0	1499	1087	38	1	8158	1	BRCA2	13	32937431	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3966282	32937431	82232447	69	4793											
RB1	5925	broad.mit.edu	37	chr13	48953730	48953730	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	7	19	9	6	2	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	9	rs3092891	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.0?(15)|p.?(8)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.e14-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18	19	19					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation	T	48953730	C	T	48953730	5	4	72	1	0	0	0	0	0	0	1	0	13098	782	27	1	1387	1	RB1	13	48953730	Splice_Site	SNP	C	TCGA-06-0939-01A-01D-1353-08	16016299	48953730	66216148	70	4794											
IPO5	3843	broad.mit.edu	37	chr13	98641352	98641352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtggcccgaaggtttgaAgttcctttttgattcagtca	8	14	10	9	1	2	2	2	2	0	0	3	3	3	2	3	2	0	2	3	2	2	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:98641352A>T	ENST00000490680.1	+	4	466	c.401A>T	c.(400-402)aAg>aTg	p.K134M	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000261574.5_Missense_Mutation_p.K152M			O00410	IPO5_HUMAN	importin 5	134					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGGTTTGAAGTTCCTTTTT	0.383																																						uc001vne.3																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(454-456)aAg>aTg		Homo sapiens importin 5 (IPO5), mRNA.							93	94	94					13																	98641352		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98641352A>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.401A>T	13.37:g.98641352A>T	ENSP00000418393:p.Lys134Met					IPO5_uc001vnf.1_Missense_Mutation_p.K134M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	p.K152M	NM_002271	NP_002262	O00410	IPO5_HUMAN			6	635	+			134					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.455A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.1|29.1	4.975581|4.975581	0.92919|0.92919	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000475420;ENST00000480641;ENST00000490680;ENST00000389591;ENST00000403772;ENST00000473582|ENST00000469360	T;T;T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;3.49;-0.38;-0.38;3.49|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71978|0.71978	0.3404|0.3404	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.994;0.997|.	P;D|.	0.63597|.	0.885;0.916|.	T|T	0.70890|0.70890	-0.4749|-0.4749	10|5	0.59425|.	D|.	0.04|.	-2.9101|-2.9101	16.0023|16.0023	0.80306|0.80306	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	134;152|.	O00410;O00410-3|.	IPO5_HUMAN;.|.	M|C	152;134;134;74;134;107;105;115|136	ENSP00000261574:K152M;ENSP00000350219:K134M;ENSP00000420079:K134M;ENSP00000419003:K74M;ENSP00000418393:K134M;ENSP00000385938:K105M;ENSP00000420491:K115M|.	ENSP00000261574:K152M|.	K|S	+|+	2|1	0|0	IPO5|IPO5	97439353|97439353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.004000|9.004000	0.93583|0.93583	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98641352	A	T	98641352	3	4	72	1	0	0	0	0	1	0	0	0	7796	72	3	5	473	5	IPO5	13	98641352	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	49687622	98641352	16528526	71	4795											
SLC22A17	51310	broad.mit.edu	37	chr14	23820969	23820969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagccctcacctgtctgcGgggtaacccaggaacaggta	10	6	12	13	1	2	0	1	0	1	0	2	2	2	1	3	4	4	2	3	4	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:23820969G>A	ENST00000206544.8	-	2	699	c.363C>T	c.(361-363)ccC>ccT	p.P121P	SLC22A17_ENST00000354772.3_Silent_p.P121P|SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000397267.1_Silent_p.P121P	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	121					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCTGTCTGCGGGGTAACCCA	0.617																																						uc001wjl.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(361-363)ccC>ccT		Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.							53	49	50					14																	23820969		2203	4300	6503	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23820969G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.363C>T	14.37:g.23820969G>A						SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Silent_p.P121P|SLC22A17_uc001wjn.3_Intron|SLC22A17_uc010akl.1_Silent_p.P121P	p.P121P	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	600	-	all_cancers(95;7.12e-06)		121					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.363C>T	CCDS9593.1																																																																																				0.617	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		A	23820969	G	A	23820969	2	1	72	1	0	0	0	0	0	0	0	1	14448	1103	39	2		2	SLC22A17	14	23820969	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08		23820969	83528571	72	4796											
FSCB	84075	broad.mit.edu	37	chr14	44975096	44975096	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggaggcagaatttcAgcaggaggctcttctgaagg	9	9	16	7	0	3	2	1	1	2	1	3	4	3	4	0	6	1	4	0	6	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:44975096A>G	ENST00000340446.4	-	1	1386	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	365	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGAATTTCAGCAGGAGGCT	0.493																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1093-1095)gcT>gcC		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							85	99	95					14																	44975096		2200	4299	6499	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975096A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1095T>C	14.37:g.44975096A>G							p.A365A	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1404	-			365			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1095T>C	CCDS9679.1																																																																																				0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		G	44975096	A	G	44975096	2	3	72	1	0	0	0	0	0	0	0	1	6066	175	7	4		4	FSCB	14	44975096	Silent	SNP	A	TCGA-06-0939-01A-01D-1353-08	21154127	44975096	62374444	73	4797											
PCNX	22990	broad.mit.edu	37	chr14	71444226	71444226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcagtggaacggaccGggacactaacagtactgtca	12	7	11	11	2	1	0	1	0	0	0	1	3	1	3	1	3	5	2	1	3	4	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:71444226G>A	ENST00000304743.2	+	6	1618	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	PCNX_ENST00000238570.5_Missense_Mutation_p.R391Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R391Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	391						integral component of membrane (GO:0016021)		p.R391P(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAACGGACCGGGACACTAAC	0.498																																						uc001xmo.2																			1	Substitution - Missense(1)	p.R391P(2)	lung(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1171-1173)cGg>cAg		Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.							80	83	82					14																	71444226		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444226G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1172G>A	14.37:g.71444226G>A	ENSP00000304192:p.Arg391Gln					PCNX_uc001xmn.4_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	p.R391Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	5	1618	+			391					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1172G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396292	0.42512	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.15139	3.07;3.04;2.45	5.93	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26304	0.0642	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	0.993;0.997;1.0	P;P;D	0.69307	0.531;0.665;0.963	T	0.01648	-1.1304	10	0.15499	T	0.54	.	16.6058	0.84828	0.0:0.1299:0.8701:0.0	.	391;391;391	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Q	391	ENSP00000304192:R391Q;ENSP00000238570:R391Q;ENSP00000396617:R391Q	ENSP00000238570:R391Q	R	+	2	0	PCNX	70513979	1.000000	0.71417	0.965000	0.40720	0.120000	0.20174	7.329000	0.79170	2.816000	0.96949	0.650000	0.86243	CGG		0.498	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71444226	G	A	71444226	3	1	72	1	0	0	0	0	1	0	0	0	11591	1116	39	2	1194	2	PCNX	14	71444226	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	26469130	71444226	35905314	74	4798											
ESRRB	2103	broad.mit.edu	37	chr14	76964704	76964704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgctgcggcagaCggccgccaaggccgtgcagc	6	4	15	16	5	0	1	0	0	0	1	0	1	0	1	4	3	5	4	4	3	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:76964704C>T	ENST00000509242.1	+	8	1303	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ESRRB_ENST00000261532.7_Missense_Mutation_p.T402M|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000380887.2_Missense_Mutation_p.T402M|ESRRB_ENST00000556177.1_Missense_Mutation_p.T402M	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	402					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGCGGCAGACGGCCGCCAAG	0.627																																						uc001xsr.3																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1204-1206)aCg>aTg		Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							14	16	15					14																	76964704		2162	4231	6393	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76964704C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1205C>T	14.37:g.76964704C>T	ENSP00000422488:p.Thr402Met					ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T402M	p.T402M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	8	1576	+			402					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.1205C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470157	0.63625	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.51849	-0.8653	10	0.13470	T	0.59	.	19.5447	0.95287	0.0:1.0:0.0:0.0	.	402;407	Q5F0P7;E7EWD9	.;.	M	407;402;402;402;402	ENSP00000424992:T407M;ENSP00000422488:T402M;ENSP00000451658:T402M;ENSP00000370270:T402M;ENSP00000261532:T402M	ENSP00000261532:T402M	T	+	2	0	ESRRB	76034457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.611000	0.88343	0.561000	0.74099	ACG		0.627	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			T	76964704	C	T	76964704	3	4	72	1	0	0	0	0	1	0	0	0	5261	536	19	1	1227	1	ESRRB	14	76964704	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	5520478	76964704	30384836	75	4799											
BCL11B	64919	broad.mit.edu	37	chr14	99640778	99640778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacaccttgccgcagtactCgcacgtgtcgctgcggcggc	6	7	13	15	6	0	0	0	0	0	0	2	1	0	0	2	2	4	4	2	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:99640778C>T	ENST00000357195.3	-	4	2404	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	BCL11B_ENST00000443726.2_Missense_Mutation_p.E605K|BCL11B_ENST00000345514.2_Missense_Mutation_p.E728K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	799					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGTACTCGCACGTGTCG	0.721			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2395-2397)Gag>Aag		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.							26	23	24					14																	99640778		2201	4297	6498	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640778C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2395G>A	14.37:g.99640778C>T	ENSP00000349723:p.Glu799Lys					BCL11B_uc001ygb.3_Missense_Mutation_p.E728K	p.E799K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2662	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	799					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2395G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718539	0.89205	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07216	3.21;3.21;3.21	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259980	0.30639	N	0.009195	T	0.28896	0.0717	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.04360	-1.0957	10	0.56958	D	0.05	-15.5178	17.1335	0.86733	0.0:1.0:0.0:0.0	.	728;799	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	K	799;728;605	ENSP00000349723:E799K;ENSP00000280435:E728K;ENSP00000387419:E605K	ENSP00000280435:E728K	E	-	1	0	BCL11B	98710531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.332000	0.79203	2.118000	0.64928	0.561000	0.74099	GAG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		T	99640778	C	T	99640778	3	4	72	1	0	0	0	0	1	0	0	0	1364	893	31	2	293	2	BCL11B	14	99640778	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	22676074	99640778	7708762	76	4800											
FAM82A2	55177	broad.mit.edu	37	chr15	41046948	41046948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagtcccagcccggCacgggcaccacccagggctc	9	2	11	19	2	0	0	0	0	0	0	2	0	1	0	4	3	3	4	4	3	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41046948C>T	ENST00000260385.6	-	1	1101	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	RMDN3_ENST00000338376.3_Missense_Mutation_p.A12T|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	12					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCCAGCCCGGCACGGGCACCA	0.687																																						uc001zmp.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(34-36)Gcc>Acc		Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.							26	28	27					15																	41046948		2201	4297	6498	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41046948C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.34G>A	15.37:g.41046948C>T	ENSP00000260385:p.Ala12Thr					FAM82A2_uc001zmo.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	p.A12T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			1	219	-			12					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.34G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924096	0.52653	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.31510	1.49;1.49	5.58	0.315	0.15852	.	0.729320	0.13088	N	0.414755	T	0.16385	0.0394	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20874	-1.0262	10	0.29301	T	0.29	-3.2045	4.7725	0.13162	0.3143:0.4911:0.0:0.1947	.	12	Q96TC7	RMD3_HUMAN	T	12	ENSP00000260385:A12T;ENSP00000342493:A12T	ENSP00000260385:A12T	A	-	1	0	FAM82A2	38834240	0.844000	0.29557	0.142000	0.22268	0.887000	0.51463	0.804000	0.27098	0.282000	0.22254	0.650000	0.86243	GCC		0.687	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		T	41046948	C	T	41046948	3	4	72	1	0	0	0	0	1	0	0	0	5631	710	25	3	1426	3	FAM82A2	15	41046948	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		41046948	61484444	77	4801											
SPINT1	6692	broad.mit.edu	37	chr15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctggggctcaggCgactttcccccagggtgagt	6	8	15	12	1	2	1	1	1	1	0	3	2	3	1	2	5	1	3	2	5	0	1	rs145193299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000562057.1_Intron|SPINT1_ENST00000431806.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0	0	5008	,	,		14296	0		0	False		,,,				2504	0.001					uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(946-948)gCg>gTg		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88	99	96		,,947	-2.4	0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		T	41146113	C	T	41146113	3	4	72	1	0	0	0	0	1	0	0	0	15067	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	99165	41146113	61385279	78	4802											
TP53BP1	7158	broad.mit.edu	37	chr15	43748820	43748820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagaccctgaagacccCtcctctggatggtgttcttt	7	12	8	14	0	3	3	1	1	2	2	4	4	4	4	5	2	0	1	5	2	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:43748820C>T	ENST00000263801.3	-	12	2223	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	TP53BP1_ENST00000450115.2_Silent_p.E662E|TP53BP1_ENST00000382044.4_Silent_p.E662E|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Silent_p.E662E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	657					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAGACCCCTCCTCTGGAT	0.483								Other conserved DNA damage response genes																														uc001zrs.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1969-1971)gaG>gaA	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.							94	99	97					15																	43748820		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748820C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1971G>A	15.37:g.43748820C>T						TP53BP1_uc010udp.2_Silent_p.E657E|TP53BP1_uc001zrq.4_Silent_p.E662E|TP53BP1_uc001zrr.4_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	p.E657E	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	11	2119	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	657					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.1971G>A	CCDS10096.1																																																																																				0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			T	43748820	C	T	43748820	2	4	72	1	0	0	0	0	0	0	0	1	16380	680	24	3		3	TP53BP1	15	43748820	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	2602707	43748820	58782572	79	4803											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401546	77401546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacccgcaggggagctgtaGttgtgttcctgggccagaag	7	9	16	9	1	0	2	0	1	0	1	1	3	1	3	3	3	1	5	3	3	2	3	rs373069226		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr16:77401546G>T	ENST00000282849.5	-	4	988	c.570C>A	c.(568-570)aaC>aaA	p.N190K	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	190					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGCTGTAGTTGTGTTCCT	0.502																																						uc002ffc.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(568-570)aaC>aaA		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							119	106	110					16																	77401546		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401546G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.570C>A	16.37:g.77401546G>T	ENSP00000282849:p.Asn190Lys					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	p.N190K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	989	-			190					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.570C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080999	0.94050	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.04970	3.52;3.52	4.72	4.72	0.59763	Peptidase M12B, propeptide (1);	0.048853	0.85682	D	0.000000	T	0.13586	0.0329	L	0.59436	1.845	0.58432	D	0.999998	B	0.29341	0.242	B	0.40329	0.326	T	0.04454	-1.0950	10	0.45353	T	0.12	.	16.8505	0.85992	0.0:0.0:1.0:0.0	.	190	Q8TE60	ATS18_HUMAN	K	190	ENSP00000282849:N190K;ENSP00000392540:N190K	ENSP00000282849:N190K	N	-	3	2	ADAMTS18	75959047	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.446000	0.82766	0.555000	0.69702	AAC		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77401546	G	T	77401546	3	4	72	1	0	0	0	0	1	0	0	0	263	1020	36	5	3175	5	ADAMTS18	16	77401546	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		77401546	12953207	80	4804											
OR1E2	8388	broad.mit.edu	37	chr17	3336801	3336801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggccacaaggaggaagCtctctagatccgaaaaatac	15	6	9	11	1	1	1	0	0	1	1	3	4	2	3	3	3	2	1	3	3	6	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3336801C>T	ENST00000248384.1	-	1	334	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	112					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						AAGGAGGAAGCTCTCTAGATC	0.522																																						uc010vre.2																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(334-336)aGc>aAc		Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.							98	81	86					17																	3336801		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336801C>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.335G>A	17.37:g.3336801C>T	ENSP00000248384:p.Ser112Asn						p.S112N	NM_003554	NP_003545	P47887	OR1E2_HUMAN			0	335	-			112					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.335G>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646177	0.03531	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00344	8.02	5.47	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.455052	0.24178	N	0.040838	T	0.00109	0.0003	N	0.16368	0.405	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.41822	-0.9487	10	0.02654	T	1	.	3.2868	0.06935	0.2026:0.5615:0.0:0.2359	.	112	P47887	OR1E2_HUMAN	N	112;111	ENSP00000248384:S112N	ENSP00000248384:S112N	S	-	2	0	OR1E2	3283551	0.000000	0.05858	1.000000	0.80357	0.133000	0.20885	-1.291000	0.02775	1.545000	0.49373	0.650000	0.86243	AGC		0.522	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			T	3336801	C	T	3336801	3	4	72	1	0	0	0	0	1	0	0	0	10955	797	28	3	639	3	OR1E2	17	3336801	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		3336801	77858409	81	4805											
TRPV1	7442	broad.mit.edu	37	chr17	3486725	3486725	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatcttaaagggaggCtgtgagatgcagagaagttg	11	12	13	5	0	1	2	0	1	1	2	2	5	2	3	1	2	1	3	1	2	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3486725C>G	ENST00000571088.1	-	9	1597		c.e9-1		TRPV1_ENST00000174621.6_Splice_Site|SHPK_ENST00000572705.1_Splice_Site|TRPV1_ENST00000399759.3_Splice_Site|TRPV1_ENST00000399756.4_Splice_Site|TRPV1_ENST00000310522.5_Splice_Site|TRPV1_ENST00000425167.2_Splice_Site|TRPV1_ENST00000576351.1_Splice_Site	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1						calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAAAGGGAGGCTGTGAGATGC	0.473																																					Melanoma(38;962 1762 15789)	uc010vro.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.e9-1		Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						58	54	55					17																	3486725		1940	4154	6094	SO:0001630	splice_region_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3486725C>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1384-1G>C	17.37:g.3486725C>G						TRPV1_uc010vrp.2_Splice_Site_p.P402_splice|TRPV1_uc010vrq.2_Splice_Site_p.P460_splice|TRPV1_uc010vrr.2_Splice_Site_p.P462_splice|TRPV1_uc010vrs.2_Splice_Site_p.P462_splice|TRPV1_uc010vrt.2_Splice_Site_p.P462_splice|TRPV1_uc010vru.2_Splice_Site_p.P462_splice	p.P473_splice	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	9	1450	-			462					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Splice_Site	SNP	ENST00000571088.1	37	c.1417_splice	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087647	0.55968	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9437	0.89032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPV1	3433474	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	6.850000	0.75420	2.567000	0.86603	0.655000	0.94253	.		0.473	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	Intron	G	3486725	C	G	3486725	5	3	72	1	0	0	0	0	0	0	1	0	16592	811	28	5	841	5	TRPV1	17	3486725	Splice_Site	SNP	C	TCGA-06-0939-01A-01D-1353-08	149924	3486725	77708485	82	4806											
PLXDC1	57125	broad.mit.edu	37	chr17	37295949	37295949	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcgtgtccatggccagGgtgcccccacccaggtcctg	5	6	14	16	1	0	0	0	0	0	0	2	0	2	0	6	4	2	1	6	4	0	0	rs371702899		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:37295949G>T	ENST00000315392.4	-	2	424	c.213C>A	c.(211-213)acC>acA	p.T71T	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Silent_p.T71T	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	71					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATGGCCAGGGTGCCCCCAC	0.672													G|||	1	0.000199681	0	0	5008	,	,		15547	0		0	False		,,,				2504	0.001					uc002hrg.2																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(211-213)acC>acA		Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.							56	50	52					17																	37295949		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37295949G>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.213C>A	17.37:g.37295949G>T						PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	p.T71T	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			1	425	-			71					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.213C>A	CCDS11333.1																																																																																				0.672	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		T	37295949	G	T	37295949	2	4	72	1	0	0	0	0	0	0	0	1	12117	1219	43	5		5	PLXDC1	17	37295949	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	33809224	37295949	43899261	83	4807											
KRT13	3860	broad.mit.edu	37	chr17	39661434	39661434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggcctcctccagggcGcgcaccttctccaggtagga	5	8	13	15	3	1	0	0	0	1	0	4	1	3	1	5	4	0	3	5	4	1	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:39661434G>A	ENST00000246635.3	-	1	415	c.369C>T	c.(367-369)cgC>cgT	p.R123R	KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.R123R|KRT13_ENST00000336861.3_Silent_p.R123R	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	123	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTCCAGGGCGCGCACCTTCT	0.597																																						uc002hwu.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(367-369)cgC>cgT		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							138	133	135					17																	39661434		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661434G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.369C>T	17.37:g.39661434G>A						KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc010wfr.2_Silent_p.R16R|KRT13_uc010cxo.3_Silent_p.R123R|KRT13_uc021txk.1_Silent_p.R16R	p.R123R	NM_153490	NP_705694	P13646	K1C13_HUMAN			0	432	-		Breast(137;0.000286)	123			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.369C>T	CCDS11396.1																																																																																				0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		A	39661434	G	A	39661434	2	1	72	1	0	0	0	0	0	0	0	1	8450	1074	38	1		1	KRT13	17	39661434	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	2365485	39661434	41533776	84	4808											
HLF	3131	broad.mit.edu	37	chr17	53398080	53398080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcagccaagcgctcccGcgacgcccggaggctgaaag	9	3	14	15	5	0	1	0	1	0	0	1	3	1	2	3	3	2	3	3	3	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:53398080G>A	ENST00000226067.5	+	4	1201	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Missense_Mutation_p.R158H|HLF_ENST00000430986.2_Missense_Mutation_p.R158H|HLF_ENST00000573945.1_Missense_Mutation_p.R158H	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	243	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(727-729)cGc>cAc		Homo sapiens hepatic leukemia factor (HLF), mRNA.							35	40	38					17																	53398080		2203	4299	6502	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398080G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.728G>A	17.37:g.53398080G>A	ENSP00000226067:p.Arg243His					HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	p.R243H	NM_002126	NP_002117	Q16534	HLF_HUMAN			3	1253	+			243					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.728G>A	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669231	0.88348	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.72167	-0.63;-0.63	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93764	0.7069	10	0.87932	D	0	.	18.6863	0.91565	0.0:0.0:1.0:0.0	.	191;243	B4DIQ5;Q16534	.;HLF_HUMAN	H	243;158	ENSP00000226067:R243H;ENSP00000402496:R158H	ENSP00000226067:R243H	R	+	2	0	HLF	50753079	1.000000	0.71417	0.982000	0.44146	0.252000	0.25951	9.469000	0.97679	2.659000	0.90383	0.563000	0.77884	CGC		0.547	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		A	53398080	G	A	53398080	3	1	72	1	0	0	0	0	1	0	0	0	7214	1087	38	1	742	1	HLF	17	53398080	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	13736646	53398080	27797130	85	4809											
TLK2	11011	broad.mit.edu	37	chr17	60679467	60679467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attacagattttggtctttcGaagatcatggatgatgatag	12	15	10	4	1	2	4	1	2	1	2	3	6	2	5	0	2	1	0	0	2	3	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:60679467G>A	ENST00000326270.9	+	20	2119	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	TLK2_ENST00000343388.7_Silent_p.S563S|TLK2_ENST00000542523.1_Silent_p.S563S|TLK2_ENST00000582809.1_Silent_p.S446S|TLK2_ENST00000346027.5_Silent_p.S595S	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGTCTTTCGAAGATCATGG	0.383																																						uc010ddp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1849-1851)tcG>tcA		Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.							100	93	96					17																	60679467		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60679467G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1851G>A	17.37:g.60679467G>A						TLK2_uc002izx.4_Silent_p.S443S|TLK2_uc002izz.4_Silent_p.S595S|TLK2_uc002jaa.4_Silent_p.S563S|TLK2_uc010wpd.2_Silent_p.S563S	p.S617S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			19	2119	+			617			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1851G>A																																																																																					0.383	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		A	60679467	G	A	60679467	2	1	72	1	0	0	0	0	0	0	0	1	15941	1045	37	2		2	TLK2	17	60679467	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	7281387	60679467	20515743	86	4810											
ABCA10	10349	broad.mit.edu	37	chr17	67181653	67181653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggctggtaagaggcGtcttcgggatttgttccaga	9	12	13	7	2	1	2	0	0	1	2	3	3	2	3	1	4	1	3	1	4	2	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:67181653G>A	ENST00000269081.4	-	21	3371	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	821					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTAAGAGGCGTCTTCGGGAT	0.363																																						uc010dfa.1																			0		p.K820N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2461-2463)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.							72	72	72					17																	67181653		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67181653G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2462C>T	17.37:g.67181653G>A	ENSP00000269081:p.Thr821Met					ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	p.T821M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			20	3341	-	Breast(10;6.95e-12)		821					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2462C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	7.776	0.708510	0.15239	.	.	ENSG00000154263	ENST00000269081	D	0.87412	-2.25	2.92	-0.695	0.11291	.	1.266010	0.06270	U	0.695557	T	0.76807	0.4039	L	0.29908	0.895	0.09310	N	1	P;P	0.34629	0.46;0.46	B;B	0.32805	0.153;0.153	T	0.64394	-0.6418	10	0.48119	T	0.1	.	2.8343	0.05509	0.2334:0.0:0.3866:0.38	.	821;821	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	M	821	ENSP00000269081:T821M	ENSP00000269081:T821M	T	-	2	0	ABCA10	64693248	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.325000	0.02687	-0.222000	0.09958	-0.232000	0.12228	ACG		0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67181653	G	A	67181653	3	1	72	1	0	0	0	0	1	0	0	0	29	1145	40	1	2249	1	ABCA10	17	67181653	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6502186	67181653	14013557	87	4811											
P4HB	5034	broad.mit.edu	37	chr17	79804920	79804920	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaggatgtgagtcttgAtttcacctccaaaaatcttc	12	12	7	10	0	3	2	1	2	2	0	5	3	4	3	2	1	1	1	2	1	2	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:79804920A>C	ENST00000331483.4	-	6	980	c.758T>G	c.(757-759)aTc>aGc	p.I253S	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.I209S|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	253					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTGAGTCTTGATTTCACCTCC	0.468																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(757-759)aTc>aGc		Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.							256	278	271					17																	79804920		2203	4298	6501	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804920A>C	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.758T>G	17.37:g.79804920A>C	ENSP00000327801:p.Ile253Ser					P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	p.I253S	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		5	955	-	all_neural(118;0.0878)|Ovarian(332;0.12)		253					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.758T>G	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.7|29.7	5.031804|5.031804	0.93575|0.93575	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000439918	T|.	0.33438|.	1.41|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Thioredoxin-like fold (1);|.	0.047694|.	0.85682|.	D|.	0.000000|.	D|D	0.86066|0.86066	0.5844|0.5844	M|M	0.93678|0.93678	3.445|3.445	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.64506|.	0.926|.	D|D	0.89856|0.89856	0.4013|0.4013	10|5	0.87932|.	D|.	0|.	.|.	15.8807|15.8807	0.79201|0.79201	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	253|.	P07237|.	PDIA1_HUMAN|.	S|K	253;196;237|39	ENSP00000327801:I253S|.	ENSP00000327801:I253S|.	I|N	-|-	2|3	0|2	P4HB|P4HB	77398209|77398209	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	9.225000|9.225000	0.95219|0.95219	2.207000|2.207000	0.71202|0.71202	0.529000|0.529000	0.55759|0.55759	ATC|AAT		0.468	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		C	79804920	A	C	79804920	3	2	72	1	0	0	0	0	1	0	0	0	11359	333	12	5	792	5	P4HB	17	79804920	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	12623267	79804920	1390290	88	4812											
LAMA3	3909	broad.mit.edu	37	chr18	21492813	21492813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatgggggtactgagAatatgtttgtgatgtacctt	12	13	13	3	0	0	3	0	2	0	2	0	5	0	3	1	2	2	3	1	2	6	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr18:21492813A>G	ENST00000313654.9	+	56	7538	c.7297A>G	c.(7297-7299)Aat>Gat	p.N2433D	LAMA3_ENST00000269217.6_Missense_Mutation_p.N824D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N768D|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2377D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2433	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGTACTGAGAATATGTTTGT	0.398																																						uc002kuq.3																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7297-7299)Aat>Gat		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127	119	122					18																	21492813		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492813A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7297A>G	18.37:g.21492813A>G	ENSP00000324532:p.Asn2433Asp					LAMA3_uc002kur.3_Missense_Mutation_p.N2377D|LAMA3_uc002kus.4_Missense_Mutation_p.N824D|LAMA3_uc002kut.4_Missense_Mutation_p.N768D	p.N2433D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			55	7383	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2433			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7297A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	1.384	-0.582652	0.03827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18174	2.25;2.23;3.79	5.64	1.75	0.24633	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.05823	0.0152	N	0.02830	-0.485	0.29804	N	0.83218	B;B;B;B	0.10296	0.001;0.003;0.003;0.003	B;B;B;B	0.15870	0.007;0.009;0.014;0.01	T	0.39375	-0.9617	9	0.02654	T	1	.	9.7145	0.40265	0.4662:0.0:0.5338:0.0	.	768;824;2377;2433	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	D	2433;2377;824	ENSP00000324532:N2433D;ENSP00000382432:N2377D;ENSP00000269217:N824D	ENSP00000269217:N824D	N	+	1	0	LAMA3	19746811	0.578000	0.26717	0.904000	0.35570	0.857000	0.48899	0.570000	0.23653	0.462000	0.27095	-0.256000	0.11100	AAT		0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		G	21492813	A	G	21492813	3	3	72	1	0	0	0	0	1	0	0	0	8607	246	9	4	7694	4	LAMA3	18	21492813	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		21492813	56584435	89	4813											
TMEM146	257062	broad.mit.edu	37	chr19	5748191	5748191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcgtcgacaccgtcCgggtgaaaaaaggagaccag	12	5	13	11	4	1	2	1	1	0	1	4	4	2	2	3	2	1	1	3	2	3	0	rs367967767		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:5748191C>T	ENST00000381624.3	+	10	890	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	277					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CGACACCGTCCGGGTGAAAAA	0.542													C|||	1	0.000199681	0	0	5008	,	,		16167	0.001		0	False		,,,				2504	0					uc002mda.3																			0											c.(829-831)Cgg>Tgg		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.		C	TRP/ARG	0,3962		0,0,1981	94	101	99		829	-4.4	0	19		99	1,8289		0,1,4144	no	missense	TMEM146	NM_152784.3	101	0,1,6125	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	277/799	5748191	1,12251	1981	4145	6126	SO:0001583	missense	257062					integral to membrane		g.chr19:5748191C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.829C>T	19.37:g.5748191C>T	ENSP00000371037:p.Arg277Trp					CATSPERD_uc010duj.1_5'UTR	p.R277W	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			9	890	+			277					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.829C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581963	0.46006	0.0	1.21E-4	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.25579	1.79	3.0	-4.44	0.03557	.	3.053280	0.01531	U	0.018798	T	0.32823	0.0842	L	0.43152	1.355	0.09310	N	0.999999	D	0.76494	0.999	P	0.59948	0.866	T	0.42832	-0.9428	10	0.87932	D	0	0.8992	1.97	0.03404	0.2991:0.2312:0.3599:0.1099	.	277	Q86XM0	TM146_HUMAN	W	203;277	ENSP00000371037:R277W	ENSP00000371037:R277W	R	+	1	2	TMEM146	5699191	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.347000	0.02632	-0.732000	0.04856	-0.145000	0.13849	CGG		0.542	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		T	5748191	C	T	5748191	3	4	72	1	0	0	0	0	1	0	0	0	16057	643	23	2	867	2	TMEM146	19	5748191	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5748191	53380792	90	4814											
CATSPERG	57828	broad.mit.edu	37	chr19	38851477	38851477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccactatgacttggagcGgaaagggtgagaagacaccg	13	5	14	9	2	0	3	0	2	0	2	0	6	0	5	2	3	2	0	2	3	3	2	rs535055326		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:38851477G>A	ENST00000409235.3	+	16	1989	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R585Q|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	625					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GACTTGGAGCGGAAAGGGTGA	0.572													G|||	1	0.000199681	0	0	5008	,	,		18864	0.001		0	False		,,,				2504	0					uc002oih.4																			0		p.T625T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(1873-1875)cGg>cAg		Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.							38	32	34					19																	38851477		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38851477G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1874G>A	19.37:g.38851477G>A	ENSP00000386962:p.Arg625Gln					CATSPERG_uc002oig.4_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.4_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.3_Non-coding_Transcript	p.R625Q	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			15	1961	+			625					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1874G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016353	0.35606	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.8	-8.7	0.00851	.	2.373100	0.01505	N	0.017655	T	0.17195	0.0413	N	0.17674	0.51	0.09310	N	1	B;B	0.20261	0.017;0.043	B;B	0.14578	0.005;0.011	T	0.09684	-1.0663	10	0.28530	T	0.3	-7.6665	8.9729	0.35917	0.6595:0.0:0.2261:0.1144	.	625;585	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Q	585;625;625	ENSP00000387057:R585Q;ENSP00000386962:R625Q;ENSP00000386950:R625Q	ENSP00000386962:R625Q	R	+	2	0	CATSPERG	43543317	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.314000	0.00516	-1.489000	0.01844	-0.518000	0.04402	CGG		0.572	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		A	38851477	G	A	38851477	3	1	72	1	0	0	0	0	1	0	0	0	2692	1116	39	2	1932	2	CATSPERG	19	38851477	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	33103286	38851477	20277506	91	4815											
ZNF780A	284323	broad.mit.edu	37	chr19	40580618	40580618	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttctcaccagtatgcaaTttctgatgtcgaataaggtg	10	14	10	7	1	2	1	1	1	2	0	4	2	2	1	1	2	1	3	1	2	4	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:40580618T>C	ENST00000595687.2	-	6	1940	c.1731A>G	c.(1729-1731)aaA>aaG	p.K577K	ZNF780A_ENST00000594395.1_Silent_p.K578K|ZNF780A_ENST00000455521.1_Silent_p.K578K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K577K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.K543K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388																																						uc010xvh.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1732-1734)aaA>aaG		Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.							140	140	140					19																	40580618		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580618T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1731A>G	19.37:g.40580618T>C						ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K577K|ZNF780A_uc002omz.3_Silent_p.K577K	p.K578K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN			5	1882	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		577					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1734A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		C	40580618	T	C	40580618	2	2	72	1	0	0	0	0	0	0	0	1	18149	1490	52	4		4	ZNF780A	19	40580618	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	1729141	40580618	18548365	92	4816											
PPFIA3	8541	broad.mit.edu	37	chr19	49633717	49633717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctggagcggcagcgcgCcgaggtgtgccagctgcggg	4	4	20	13	5	0	0	0	0	0	0	0	2	0	1	3	5	5	2	3	5	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:49633717C>G	ENST00000334186.4	+	7	1089	c.740C>G	c.(739-741)gCc>gGc	p.A247G	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A247G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	247					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCAGCGCGCCGAGGTGTGC	0.692																																						uc002pmr.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(739-741)gCc>gGc		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.							11	13	12					19																	49633717		2163	4248	6411	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49633717C>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.740C>G	19.37:g.49633717C>G	ENSP00000335614:p.Ala247Gly					PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.A115G	p.A247G	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	6	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	247					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.740C>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	7.792	0.711703	0.15306	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.42513	0.97	4.15	3.09	0.35607	.	0.309004	0.22910	N	0.054159	T	0.31734	0.0806	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21452	0.056;0.007;0.001	B;B;B	0.19946	0.027;0.008;0.003	T	0.14811	-1.0459	10	0.22109	T	0.4	-13.1917	6.4627	0.21966	0.0:0.5398:0.3616:0.0986	.	171;247;247	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	G	247;171	ENSP00000335614:A247G	ENSP00000335614:A247G	A	+	2	0	PPFIA3	54325529	0.000000	0.05858	0.044000	0.18714	0.796000	0.44982	0.230000	0.17852	1.091000	0.41335	0.305000	0.20034	GCC		0.692	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		G	49633717	C	G	49633717	3	3	72	1	0	0	0	0	1	0	0	0	12311	739	26	5	762	5	PPFIA3	19	49633717	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	9053099	49633717	9495266	93	4817											
ZNF544	27300	broad.mit.edu	37	chr19	58772416	58772416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatggtactcacctcagaGagactgtttgctcaaaggga	11	11	10	9	0	4	2	4	0	0	2	4	4	4	3	1	2	2	3	1	2	2	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:58772416G>C	ENST00000596652.1	+	6	678	c.444G>C	c.(442-444)gaG>gaC	p.E148D	ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.E120D|ZNF544_ENST00000599953.1_Missense_Mutation_p.E6D|ZNF544_ENST00000415203.2_Missense_Mutation_p.E120D|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.E120D|ZNF544_ENST00000269829.4_Missense_Mutation_p.E148D|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCACCTCAGAGAGACTGTTTG	0.448																																						uc010euo.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(442-444)gaG>gaC		Homo sapiens zinc finger protein 544 (ZNF544), mRNA.							100	89	93					19																	58772416		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772416G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.444G>C	19.37:g.58772416G>C	ENSP00000469635:p.Glu148Asp					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.E120D|ZNF544_uc010yhy.2_Missense_Mutation_p.E120D|ZNF544_uc002qrt.4_Missense_Mutation_p.E6D|ZNF544_uc002qru.4_Missense_Mutation_p.E6D|BC063675_uc002qrx.1_Intron	p.E148D	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	918	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	148					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.444G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087036	0.20390	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08634	3.13;3.07	3.12	-0.442	0.12253	.	.	.	.	.	T	0.04724	0.0128	N	0.20986	0.625	0.20489	N	0.999897	B;B;B	0.33857	0.024;0.016;0.429	B;B;B	0.33799	0.008;0.003;0.17	T	0.40701	-0.9549	9	0.30078	T	0.28	.	2.8128	0.05446	0.2573:0.0:0.5232:0.2195	.	120;120;148	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	D	148;120	ENSP00000269829:E148D;ENSP00000394341:E120D	ENSP00000269829:E148D	E	+	3	2	ZNF544	63464228	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.029000	0.13666	-0.096000	0.12329	0.655000	0.94253	GAG		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		C	58772416	G	C	58772416	3	2	72	1	0	0	0	0	1	0	0	0	17974	933	33	5	458	5	ZNF544	19	58772416	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	9138699	58772416	356567	94	4818											
MYH7B	57644	broad.mit.edu	37	chr20	33586908	33586908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagggcgtggaggctGccaacgccaagtgctcatcg	9	5	16	11	3	1	1	1	0	0	1	2	3	1	3	2	4	3	2	2	4	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:33586908G>A	ENST00000262873.7	+	34	4458	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1414						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGGAGGCTGCCAACGCCAA	0.607																																						uc002xbi.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4366-4368)Gcc>Acc		Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.							24	33	30					20																	33586908		2194	4297	6491	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586908G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4366G>A	20.37:g.33586908G>A	ENSP00000262873:p.Ala1456Thr						p.A1456T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		35	4683	+			1414					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.4366G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893412	0.72524	.	.	ENSG00000078814	ENST00000262873	T	0.79033	-1.23	4.54	4.54	0.55810	Myosin tail (1);	0.000000	0.34386	N	0.004002	T	0.78317	0.4264	L	0.60957	1.885	0.35848	D	0.826578	P	0.43578	0.811	B	0.43838	0.433	D	0.85457	0.1164	10	0.59425	D	0.04	.	17.504	0.87739	0.0:0.0:1.0:0.0	.	1414	A7E2Y1	MYH7B_HUMAN	T	1456	ENSP00000262873:A1456T	ENSP00000262873:A1456T	A	+	1	0	MYH7B	33050569	0.999000	0.42202	0.552000	0.28243	0.906000	0.53458	4.558000	0.60789	2.352000	0.79861	0.561000	0.74099	GCC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33586908	G	A	33586908	3	1	72	1	0	0	0	0	1	0	0	0	10040	1319	46	3	4500	3	MYH7B	20	33586908	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		33586908	29438612	95	4819											
SALL4	57167	broad.mit.edu	37	chr20	50407987	50407987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacagtggagaaagggctCtggaagagcaccgagcccgg	11	3	16	11	2	1	2	0	0	1	2	1	5	1	3	3	4	2	2	3	4	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:50407987C>T	ENST00000217086.4	-	2	1146	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SALL4_ENST00000395997.3_Silent_p.Q345Q|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	345					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGGGCTCTGGAAGAGCA	0.632																																						uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1033-1035)caG>caA		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							35	38	37					20																	50407987		2202	4299	6501	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407987C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1035G>A	20.37:g.50407987C>T						SALL4_uc010gii.3_Silent_p.Q345Q|SALL4_uc002xwi.4_Intron	p.Q345Q	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	1136	-			345					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1035G>A	CCDS13438.1																																																																																				0.632	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50407987	C	T	50407987	2	4	72	1	0	0	0	0	0	0	0	1	13813	912	32	3		3	SALL4	20	50407987	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	16821079	50407987	12617533	96	4820											
COL20A1	57642	broad.mit.edu	37	chr20	61942767	61942767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgcctccgccccgggCgctgaccctggccgcagtga	4	6	12	19	4	1	2	0	2	1	0	2	2	2	2	7	2	1	2	7	2	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:61942767C>T	ENST00000358894.6	+	12	1515	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	COL20A1_ENST00000422202.1_Missense_Mutation_p.A479V|COL20A1_ENST00000326996.6_Missense_Mutation_p.A472V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A479V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	472	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCCCGGGCGCTGACCCTG	0.687																																						uc011aau.2																			0		p.R471L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1414-1416)gCg>gTg		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							10	13	12					20																	61942767		2025	4159	6184	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61942767C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1415C>T	20.37:g.61942767C>T	ENSP00000351767:p.Ala472Val					COL20A1_uc011aav.2_Missense_Mutation_p.A293V	p.A472V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			11	1515	+	all_cancers(38;1.39e-10)		472			Fibronectin type-III 3.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1415C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524396	0.27299	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.3	3.34	0.38264	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.425918	0.22979	N	0.053338	T	0.46927	0.1418	L	0.54323	1.7	0.09310	N	1	P;P	0.50443	0.92;0.935	B;B	0.41135	0.236;0.348	T	0.40059	-0.9583	10	0.49607	T	0.09	.	11.8786	0.52562	0.0:0.822:0.178:0.0	.	479;472	Q9P218-2;Q9P218	.;COKA1_HUMAN	V	472;472;479;479	ENSP00000351767:A472V;ENSP00000323077:A472V;ENSP00000408690:A479V;ENSP00000414753:A479V	ENSP00000323077:A472V	A	+	2	0	COL20A1	61413212	0.000000	0.05858	0.023000	0.16930	0.098000	0.18820	-0.092000	0.11129	0.779000	0.33543	0.467000	0.42956	GCG		0.687	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61942767	C	T	61942767	3	4	72	1	0	0	0	0	1	0	0	0	3679	768	27	1	1457	1	COL20A1	20	61942767	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	11534780	61942767	1082753	97	4821											
CCT8L2	150160	broad.mit.edu	37	chr22	17072541	17072541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtgagggtctcctcGtcgacctcccccaacaccac	7	7	9	18	2	1	1	0	1	1	0	5	2	2	1	6	1	1	0	6	1	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:17072541G>A	ENST00000359963.3	-	1	1159	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	300					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493																																						uc002zlp.1																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(898-900)gaC>gaT		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.							194	173	180					22																	17072541		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072541G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.900C>T	22.37:g.17072541G>A							p.D300D	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	1160	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	300					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.900C>T	CCDS13738.1																																																																																				0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17072541	G	A	17072541	2	1	72	1	0	0	0	0	0	0	0	1	2961	1136	40	1		1	CCT8L2	22	17072541	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08		17072541	34232025	98	4822											
PARVG	64098	broad.mit.edu	37	chr22	44586519	44586519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctctccctcccaaccaaCgtccaggtggaggtcatcac	9	7	8	17	1	3	0	2	0	1	0	6	2	5	1	5	3	2	0	5	3	2	0	rs3842780	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:44586519C>T	ENST00000444313.3	+	7	961	c.477C>T	c.(475-477)aaC>aaT	p.N159N	PARVG_ENST00000415224.1_Silent_p.N159N|PARVG_ENST00000422871.1_Silent_p.N159N	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	159					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602																																						uc011aqe.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(475-477)aaC>aaT		Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.							89	71	77					22																	44586519		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44586519C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.477C>T	22.37:g.44586519C>T						PARVG_uc003bep.3_Silent_p.N159N|PARVG_uc011aqf.2_Silent_p.N159N|PARVG_uc021wrc.1_Non-coding_Transcript	p.N159N	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN			6	901	+		Ovarian(80;0.024)|all_neural(38;0.0299)	159					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.477C>T	CCDS14057.1																																																																																				0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		T	44586519	C	T	44586519	2	4	72	1	0	0	0	0	0	0	0	1	11470	535	19	1		1	PARVG	22	44586519	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	27513978	44586519	6718047	99	4823											
FIGF	2277	broad.mit.edu	37	chrX	15364311	15364311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctcctttggaaagcGgcaatgctttgcacatgctg	7	14	9	11	1	1	0	0	0	1	0	2	1	1	1	2	2	4	4	2	2	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:15364311G>A	ENST00000297904.3	-	7	1438	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	337					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGGAAAGCGGCAATGCTTT	0.478																																						uc004cwt.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(1009-1011)Cgc>Tgc		Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.							105	93	97					X																	15364311		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15364311G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.1009C>T	X.37:g.15364311G>A	ENSP00000297904:p.Arg337Cys					FIGF_uc022bth.1_Non-coding_Transcript	p.R337C	NM_004469	NP_004460	O43915	VEGFD_HUMAN			6	1476	-	Hepatocellular(33;0.183)		337					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.1009C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	8.437	0.849960	0.17034	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.65	2.87	0.33458	.	0.291863	0.30252	N	0.010043	T	0.41949	0.1181	L	0.27053	0.805	0.42745	D	0.993753	B	0.17465	0.022	B	0.12156	0.007	T	0.25152	-1.0140	9	0.87932	D	0	-12.615	8.5586	0.33496	0.1287:0.127:0.7443:0.0	.	337	O43915	VEGFD_HUMAN	C	337	.	ENSP00000297904:R337C	R	-	1	0	FIGF	15274232	0.998000	0.40836	0.746000	0.31095	0.040000	0.13550	1.423000	0.34837	0.236000	0.21180	-0.229000	0.12294	CGC		0.478	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		A	15364311	G	A	15364311	3	1	72	1	0	0	0	0	1	0	0	0	5889	1116	39	2	59	2	FIGF	23	15364311	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		15364311	139906249	100	4824											
PTCHD1	139411	broad.mit.edu	37	chrX	23397772	23397772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattacacgtttgcccataTatgtatcctgaataatgata	14	15	5	7	1	0	2	0	2	0	0	1	2	1	2	2	0	2	2	2	0	8	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:23397772T>C	ENST00000379361.4	+	2	1276	c.416T>C	c.(415-417)aTa>aCa	p.I139T		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	139					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTGCCCATATATGTATCCTG	0.433																																						uc004dal.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(415-417)aTa>aCa		Homo sapiens patched domain containing 1 (PTCHD1), mRNA.							82	75	77					X																	23397772		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397772T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.416T>C	X.37:g.23397772T>C	ENSP00000368666:p.Ile139Thr					PTCHD1_uc010nfu.2_Missense_Mutation_p.I139T	p.I139T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			1	424	+			139					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.416T>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893923	0.52121	.	.	ENSG00000165186	ENST00000379361	D	0.85411	-1.98	5.06	5.06	0.68205	.	0.055638	0.64402	D	0.000001	D	0.83764	0.5325	N	0.19112	0.55	0.42909	D	0.994253	D;B	0.62365	0.991;0.013	P;B	0.56434	0.798;0.063	D	0.86482	0.1792	10	0.66056	D	0.02	.	14.1349	0.65281	0.0:0.0:0.0:1.0	.	34;139	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	T	139	ENSP00000368666:I139T	ENSP00000368666:I139T	I	+	2	0	PTCHD1	23307693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.450000	0.80656	1.983000	0.57843	0.486000	0.48141	ATA		0.433	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		C	23397772	T	C	23397772	3	2	72	1	0	0	0	0	1	0	0	0	12732	1406	49	4	422	4	PTCHD1	23	23397772	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	8033461	23397772	131872788	101	4825											
CYBB	1536	broad.mit.edu	37	chrX	37665738	37665738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggaaaggaacaatgcCggcttcctcagctacaacat	14	7	9	11	1	1	0	1	0	0	0	2	2	2	2	2	3	6	3	2	3	5	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:37665738C>T	ENST00000378588.4	+	11	1480	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	CYBB_ENST00000545017.1_Silent_p.A439A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.A204A	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	471					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGAACAATGCCGGCTTCCTCA	0.527																																						uc004ddr.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(1411-1413)gcC>gcT		Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.							112	87	96					X																	37665738		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37665738C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1413C>T	X.37:g.37665738C>T						CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	p.A471A	NM_000397	NP_000388	P04839	CY24B_HUMAN			10	1474	+			471					A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1413C>T	CCDS14242.1																																																																																				0.527	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			T	37665738	C	T	37665738	2	4	72	1	0	0	0	0	0	0	0	1	4133	639	23	2		2	CYBB	23	37665738	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	14267966	37665738	117604822	102	4826											
PAGE1	8712	broad.mit.edu	37	chrX	49455937	49455937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcacacccagtcttTggctgaaccagttcctggct	8	10	8	15	0	2	1	1	1	1	0	3	1	3	1	4	2	2	4	4	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:49455937T>C	ENST00000376150.3	-	4	339	c.207A>G	c.(205-207)ccA>ccG	p.P69P		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	69					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					ACCCAGTCTTTGGCTGAACCA	0.438																																						uc004dom.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(205-207)ccA>ccG		Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.							113	90	98					X																	49455937		2203	4300	6503	SO:0001819	synonymous_variant	8712				cellular defense response			g.chrX:49455937T>C	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.207A>G	X.37:g.49455937T>C							p.P69P	NM_003785	NP_003776	O75459	GAGB1_HUMAN			3	340	-	Ovarian(276;0.236)		69					Q6FGM3|Q9BSS7	Silent	SNP	ENST00000376150.3	37	c.207A>G	CCDS14327.1																																																																																				0.438	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			C	49455937	T	C	49455937	2	2	72	1	0	0	0	0	0	0	0	1	11389	1799	63	4		4	PAGE1	23	49455937	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	11790199	49455937	105814623	103	4827											
FOXR2	139628	broad.mit.edu	37	chrX	55650496	55650496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcccccacaaaaagacGaagggtctaactgctcagag	14	5	9	13	1	3	2	2	0	1	2	3	3	3	2	2	1	3	1	2	1	4	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:55650496G>A	ENST00000339140.3	+	1	664	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	118					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAAAAAGACGAAGGGTCTAA	0.527																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(352-354)Gaa>Aaa		Homo sapiens forkhead box R2 (FOXR2), mRNA.							65	60	62					X																	55650496		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650496G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.352G>A	X.37:g.55650496G>A	ENSP00000427329:p.Glu118Lys						p.E118K	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	664	+			118						Missense_Mutation	SNP	ENST00000339140.3	37	c.352G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	9.002	0.980300	0.18812	.	.	ENSG00000189299	ENST00000339140	D	0.94232	-3.38	3.1	0.623	0.17654	.	1.538560	0.04286	N	0.344718	D	0.86230	0.5883	L	0.37850	1.14	0.09310	N	1	P	0.44986	0.847	B	0.30105	0.111	T	0.77789	-0.2456	10	0.44086	T	0.13	.	5.1075	0.14793	0.3892:0.0:0.6108:0.0	.	118	Q6PJQ5	FOXR2_HUMAN	K	118	ENSP00000427329:E118K	ENSP00000427329:E118K	E	+	1	0	FOXR2	55667221	0.272000	0.24172	0.000000	0.03702	0.007000	0.05969	0.556000	0.23438	0.035000	0.15519	0.600000	0.82982	GAA		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		A	55650496	G	A	55650496	3	1	72	1	0	0	0	0	1	0	0	0	6032	1059	37	2	354	2	FOXR2	23	55650496	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6194559	55650496	99620064	104	4828											
SLC7A3	84889	broad.mit.edu	37	chrX	70148360	70148360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagtcctcttctgtgagcTtccagttgtgcacgtccccc	4	13	9	15	2	2	1	0	1	2	0	5	1	5	1	4	0	2	4	4	0	1	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:70148360T>C	ENST00000374299.3	-	4	797	c.653A>G	c.(652-654)aAg>aGg	p.K218R	SLC7A3_ENST00000298085.4_Missense_Mutation_p.K218R			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	218					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTGAGCTTCCAGTTGTG	0.507																																						uc004dyn.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(652-654)aAg>aGg		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						75	52	60					X																	70148360		2203	4299	6502	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148360T>C	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.653A>G	X.37:g.70148360T>C	ENSP00000363417:p.Lys218Arg					SLC7A3_uc004dyo.3_Missense_Mutation_p.K218R	p.K218R	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			3	827	-	Renal(35;0.156)		218					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.653A>G	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254510	0.39896	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89810	-2.57;-2.57	4.95	-2.25	0.06888	Amino acid permease domain (1);	0.624877	0.18233	N	0.147508	T	0.80460	0.4627	L	0.52823	1.66	0.23421	N	0.997715	B	0.06786	0.001	B	0.12837	0.008	T	0.65327	-0.6195	10	0.42905	T	0.14	.	1.0724	0.01624	0.1338:0.2403:0.2712:0.3547	.	218	Q8WY07	CTR3_HUMAN	R	218	ENSP00000363417:K218R;ENSP00000298085:K218R	ENSP00000298085:K218R	K	-	2	0	SLC7A3	70065085	0.984000	0.35163	0.917000	0.36280	0.969000	0.65631	0.892000	0.28322	-0.732000	0.04856	0.356000	0.21956	AAG		0.507	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		C	70148360	T	C	70148360	3	2	72	1	0	0	0	0	1	0	0	0	14698	1609	56	4	1242	4	SLC7A3	23	70148360	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	14497864	70148360	85122200	105	4829											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912605	77912605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagcggcctttgtgccaaCggacccattcagcttcactg	9	10	9	13	2	2	0	2	0	0	0	2	1	2	1	3	2	4	1	3	2	2	4	rs369311059		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:77912605C>T	ENST00000321110.1	-	2	1608	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	438							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547																																						uc022bzi.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1312-1314)cGt>cAt		Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.		C	HIS/ARG	2,3833		0,2,1630,571	136	103	114		1313	-2.2	0	X		114	0,6728		0,0,2428,1872	no	missense	ZCCHC5	NM_152694.2	29	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	benign	438/476	77912605	2,10561	2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912605C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1313G>A	X.37:g.77912605C>T	ENSP00000316794:p.Arg438His					ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H	p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			0	1313	-			438					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1313G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298223	0.01364	5.22E-4	0.0	ENSG00000179300	ENST00000321110	T	0.25749	1.78	3.2	-2.2	0.06994	.	.	.	.	.	T	0.16385	0.0394	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.44086	T	0.13	.	8.1248	0.30992	0.0:0.4658:0.0:0.5342	.	438	Q8N8U3	ZCHC5_HUMAN	H	438	ENSP00000316794:R438H	ENSP00000316794:R438H	R	-	2	0	ZCCHC5	77799261	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.973000	0.03798	-0.802000	0.04421	-1.585000	0.00851	CGT		0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		T	77912605	C	T	77912605	3	4	72	1	0	0	0	0	1	0	0	0	17588	536	19	1	118	1	ZCCHC5	23	77912605	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	7764245	77912605	77357955	106	4830											
RNF113A	7737	broad.mit.edu	37	chrX	119005259	119005259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctctggtcccacgggtttCgccgaacgggtggatttata	6	12	12	11	4	1	0	0	0	1	0	4	2	3	1	3	4	1	1	3	4	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:119005259C>T	ENST00000371442.2	-	1	532	c.318G>A	c.(316-318)gcG>gcA	p.A106A	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	106							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCACGGGTTTCGCCGAACGGG	0.552																																						uc004esb.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(316-318)gcG>gcA		Homo sapiens ring finger protein 113A (RNF113A), mRNA.							170	171	171					X																	119005259		2203	4300	6503	SO:0001819	synonymous_variant	7737						nucleic acid binding|zinc ion binding	g.chrX:119005259C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.318G>A	X.37:g.119005259C>T						NDUFA1_uc004esc.4_5'Flank	p.A106A	NM_006978	NP_008909	O15541	R113A_HUMAN			0	533	-			106					B2RBR7	Silent	SNP	ENST00000371442.2	37	c.318G>A	CCDS14589.1																																																																																				0.552	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		T	119005259	C	T	119005259	2	4	72	1	0	0	0	0	0	0	0	1	13427	871	31	2		2	RNF113A	23	119005259	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	41092654	119005259	36265301	107	4831											
ENOX2	10495	broad.mit.edu	37	chrX	129759313	129759313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcttcaagccctcgaagCcacagaatttccatctcttt	10	12	5	14	1	3	1	2	0	1	1	6	2	4	1	3	0	3	1	3	0	3	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:129759313C>A	ENST00000370927.1	-	13	1829	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	ENOX2_ENST00000370935.1_Missense_Mutation_p.G574V|ENOX2_ENST00000394363.1_Missense_Mutation_p.G574V|ENOX2_ENST00000338144.3_Missense_Mutation_p.G603V			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	603					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCCCTCGAAGCCACAGAATTT	0.438																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1807-1809)gGc>gTc		Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.							123	98	106					X																	129759313		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759313C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1808G>T	X.37:g.129759313C>A	ENSP00000359965:p.Gly603Val					ENOX2_uc004evx.3_Missense_Mutation_p.G574V|ENOX2_uc004evy.3_Missense_Mutation_p.G574V|ENOX2_uc004evv.3_Missense_Mutation_p.G428V	p.G603V	NM_182314	NP_006366	Q16206	ENOX2_HUMAN			15	2226	-			603					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1808G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008072	0.75046	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.65498	2.005	0.80722	D	1	D;D	0.69078	0.982;0.997	P;D	0.63283	0.856;0.913	T	0.73855	-0.3851	9	0.87932	D	0	-10.5608	12.5197	0.56052	0.0:1.0:0.0:0.0	.	603;631	Q16206;A4QPE1	ENOX2_HUMAN;.	V	574;603;574;631;603	.	ENSP00000337146:G603V	G	-	2	0	ENOX2	129586994	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.779000	0.75057	2.447000	0.82792	0.538000	0.68166	GGC		0.438	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		A	129759313	C	A	129759313	3	1	72	1	0	0	0	0	1	0	0	0	5127	739	26	5	28	5	ENOX2	23	129759313	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	10754054	129759313	25511247	108	4832											
SLITRK2	84631	broad.mit.edu	37	chrX	144904765	144904765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagtgattccagtcagagGggcagccatgctgacaccca	10	6	12	13	0	1	3	1	2	0	1	2	3	2	3	4	2	2	2	4	2	0	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:144904765G>A	ENST00000370490.1	+	1	5077	c.822G>A	c.(820-822)agG>agA	p.R274R	SLITRK2_ENST00000447897.2_Silent_p.R274R|SLITRK2_ENST00000413937.2_Silent_p.R274R|SLITRK2_ENST00000428560.2_Silent_p.R274R|SLITRK2_ENST00000434188.2_Silent_p.R274R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	274					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTCAGAGGGGCAGCCATG	0.557																																						uc022cfn.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(820-822)agG>agA		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.							84	78	80					X																	144904765		2202	4300	6502	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904765G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.822G>A	X.37:g.144904765G>A						SLITRK2_uc004fcd.3_Silent_p.R274R|SLITRK2_uc010nsp.3_Silent_p.R274R|SLITRK2_uc010nso.3_Silent_p.R274R|SLITRK2_uc011mwq.2_Silent_p.R274R|SLITRK2_uc011mwr.2_Silent_p.R274R|SLITRK2_uc011mws.2_Silent_p.R274R|SLITRK2_uc004fcg.3_Silent_p.R274R|SLITRK2_uc011mwt.2_Silent_p.R274R	p.R274R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	822	+	Acute lymphoblastic leukemia(192;6.56e-05)		274					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.822G>A	CCDS14680.1																																																																																				0.557	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144904765	G	A	144904765	2	1	72	1	0	0	0	0	0	0	0	1	14743	1223	43	3		3	SLITRK2	23	144904765	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	15145452	144904765	10365795	109	4833											
MTM1	4534	broad.mit.edu	37	chrX	149832009	149832009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaatcgagttttatatcCagttgccagtatgcgtcact	11	14	7	9	2	2	0	2	0	0	0	4	1	3	0	2	0	2	3	2	0	5	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:149832009C>T	ENST00000370396.2	+	14	1625	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MTM1_ENST00000413012.2_Missense_Mutation_p.P487L|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P409L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	524	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATCCAGTTGCCAGT	0.358																																						uc004fef.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1570-1572)cCa>cTa		Homo sapiens myotubularin 1 (MTM1), mRNA.							84	73	77					X																	149832009		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832009C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1571C>T	X.37:g.149832009C>T	ENSP00000359423:p.Pro524Leu					MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P487L|MTM1_uc011mxz.2_Missense_Mutation_p.P409L|MTM1_uc010nte.3_Missense_Mutation_p.P392L	p.P524L	NM_000252	NP_000243	Q13496	MTM1_HUMAN			13	1647	+	Acute lymphoblastic leukemia(192;6.56e-05)		524			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1571C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781396	0.90282	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.91351	-2.83;-2.83;-2.83	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.95850	3.73	0.80722	D	1	P;D	0.89917	0.844;1.0	P;D	0.91635	0.566;0.999	D	0.98433	1.0583	10	0.87932	D	0	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	487;524	B7Z491;Q13496	.;MTM1_HUMAN	L	524;409;487	ENSP00000359423:P524L;ENSP00000439784:P409L;ENSP00000389157:P487L	ENSP00000359423:P524L	P	+	2	0	MTM1	149582667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.242000	0.73789	0.513000	0.50165	CCA		0.358	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		T	149832009	C	T	149832009	3	4	72	1	0	0	0	0	1	0	0	0	9937	594	21	3	1621	3	MTM1	23	149832009	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	4927244	149832009	5438551	110	4834											
HCFC1	3054	broad.mit.edu	37	chrX	153229664	153229664	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagggagaagctgtgcccGagtcgaggacacggaggggg	11	3	19	8	3	0	1	0	0	0	1	1	6	0	3	1	5	2	1	1	5	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:153229664G>T	ENST00000310441.7	-	3	1380	c.414C>A	c.(412-414)ctC>ctA	p.L138L	HCFC1_ENST00000354233.3_Silent_p.L138L|HCFC1_ENST00000369984.4_Silent_p.L138L|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	138					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTGCCCGAGTCGAGGAC	0.562																																						uc004fjp.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(412-414)ctC>ctA		Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.							148	156	153					X																	153229664		1937	4121	6058	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153229664G>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.414C>A	X.37:g.153229664G>T							p.L138L	NM_005334	NP_005325	P51610	HCFC1_HUMAN			2	942	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.414C>A	CCDS44020.1																																																																																				0.562	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		T	153229664	G	T	153229664	2	4	72	1	0	0	0	0	0	0	0	1	6991	1045	37	5		5	HCFC1	23	153229664	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	3397655	153229664	2040896	111	4835											
ATP13A2	23400	broad.mit.edu	37	chr1	17316634	17316634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcaccttaacgccattCacggctgtgggggactccat	8	9	10	14	2	2	0	2	0	0	0	3	1	3	1	4	3	2	1	4	3	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:17316634C>T	ENST00000326735.8	-	21	2433	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	ATP13A2_ENST00000341676.5_Silent_p.V795V|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.V795V			Q9NQ11	AT132_HUMAN	ATPase type 13A2	800					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TAACGCCATTCACGGCTGTGG	0.642																																						uc001baa.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2398-2400)gtG>gtA		Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.							62	57	59					1																	17316634		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17316634C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2400G>A	1.37:g.17316634C>T						ATP13A2_uc001bac.2_Silent_p.V795V|ATP13A2_uc001bab.2_Silent_p.V795V	p.V800V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	20	2590	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	800					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.2400G>A	CCDS175.1																																																																																				0.642	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17316634	C	T	17316634	2	4	73	1	0	0	0	0	0	0	0	1	1124	813	29	3		3	ATP13A2	1	17316634	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		17316634	231933987	1	4836											
TAS1R2	80834	broad.mit.edu	37	chr1	19166669	19166669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctggaaagaacgcacggcGatacaggagatgcagattgt	14	7	13	7	3	1	3	0	0	1	3	1	6	1	4	0	3	3	2	0	3	3	2	rs573131606	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:19166669G>A	ENST00000375371.3	-	6	1965	c.1944C>T	c.(1942-1944)atC>atT	p.I648I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	648					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AACGCACGGCGATACAGGAGA	0.627													G|||	2	0.000399361	0	0	5008	,	,		19152	0.002		0	False		,,,				2504	0					uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1942-1944)atC>atT		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						114	116	115					1																	19166669		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166669G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1944C>T	1.37:g.19166669G>A							p.I648I	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1945	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	648					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1944C>T	CCDS187.1																																																																																				0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19166669	G	A	19166669	2	1	73	1	0	0	0	0	0	0	0	1	15560	1048	37	2		2	TAS1R2	1	19166669	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	1850035	19166669	230083952	2	4837											
KIF17	57576	broad.mit.edu	37	chr1	21009290	21009290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctgcgctcgtctgcGtagcgcttgcgccgcttgtg	1	13	13	14	6	1	0	0	0	1	0	3	0	2	0	2	0	5	5	2	0	1	4	rs373972661	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:21009290G>A	ENST00000247986.2	-	11	2629	c.2319C>T	c.(2317-2319)taC>taT	p.Y773Y	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.Y773Y|KIF17_ENST00000375044.1_Silent_p.Y673Y			Q9P2E2	KIF17_HUMAN	kinesin family member 17	773					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTCGTCTGCGTAGCGCTTGC	0.622																																						uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2317-2319)taC>taT		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	89	77	81		2319,2319	-2.5	0.9	1		81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	773/1029,773/1030	21009290	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009290G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2319C>T	1.37:g.21009290G>A						KIF17_uc001bdp.4_Silent_p.Y51Y|KIF17_uc009vpx.3_Silent_p.Y143Y|KIF17_uc001bds.4_Silent_p.Y773Y	p.Y773Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	10	2437	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	773					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2319C>T	CCDS213.1																																																																																				0.622	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21009290	G	A	21009290	2	1	73	1	0	0	0	0	0	0	0	1	8279	1140	40	1		1	KIF17	1	21009290	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	1842621	21009290	228241331	3	4838											
GJB4	127534	broad.mit.edu	37	chr1	35227336	35227336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattatgacatgccccgcGtggtggcctgctccgtggag	6	9	15	11	3	0	1	0	1	0	0	1	3	1	3	4	4	2	1	4	4	1	1	rs566099103		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:35227336G>A	ENST00000339480.1	+	2	851	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	161					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CATGCCCCGCGTGGTGGCCTG	0.582													G|||	1	0.000199681	0	0	5008	,	,		20599	0		0	False		,,,				2504	0.001					uc001bxw.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(481-483)Gtg>Atg		Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.							55	48	51					1																	35227336		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227336G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.481G>A	1.37:g.35227336G>A	ENSP00000345868:p.Val161Met					GJB4_uc001bxv.1_Missense_Mutation_p.V161M	p.V161M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			0	481	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	161					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.481G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192676	0.58017	.	.	ENSG00000189433	ENST00000339480	D	0.95656	-3.77	5.73	3.87	0.44632	Gap junction protein, cysteine-rich domain (1);	0.074342	0.56097	D	0.000035	D	0.91875	0.7428	L	0.50993	1.605	0.32781	N	0.502531	P	0.47962	0.903	B	0.43889	0.435	D	0.91034	0.4866	10	0.62326	D	0.03	.	2.1765	0.03864	0.2162:0.1324:0.5146:0.1367	.	161	Q9NTQ9	CXB4_HUMAN	M	161	ENSP00000345868:V161M	ENSP00000345868:V161M	V	+	1	0	GJB4	34999923	0.321000	0.24625	0.895000	0.35142	0.911000	0.54048	0.829000	0.27449	0.793000	0.33875	0.655000	0.94253	GTG		0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		A	35227336	G	A	35227336	3	1	73	1	0	0	0	0	1	0	0	0	6410	1145	40	1	483	1	GJB4	1	35227336	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	14218046	35227336	214023285	4	4839											
CD53	963	broad.mit.edu	37	chr1	111439300	111439300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtggtataaatggcaCgagtgattggaccagtggcc	9	11	15	6	1	0	1	0	1	0	0	0	3	0	2	2	4	0	3	2	4	3	4	rs369006161		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:111439300C>T	ENST00000271324.5	+	6	561	c.449C>T	c.(448-450)aCg>aTg	p.T150M	CD53_ENST00000497404.1_Intron|CD53_ENST00000429072.2_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	150					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATAAATGGCACGAGTGATTGG	0.428																																						uc001dzw.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17						c.(448-450)aCg>aTg		Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	199	181	187		449,449	4.4	0.2	1		187	0,8600		0,0,4300	no	missense,missense	CD53	NM_000560.3,NM_001040033.1	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	150/220,150/220	111439300	1,13005	2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111439300C>T	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"CD molecules", "Tetraspanins"	1686	protein-coding gene	gene with protein product		151525	"CD53 antigen"	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.449C>T	1.37:g.111439300C>T	ENSP00000271324:p.Thr150Met					CD53_uc001dzx.3_Missense_Mutation_p.T150M|CD53_uc010owa.2_Intron	p.T150M	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	6	620	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	150					B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.449C>T	CCDS829.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522267	0.44866	2.27E-4	0.0	ENSG00000143119	ENST00000271324	T	0.79653	-1.29	5.39	4.42	0.53409	Tetraspanin, EC2 domain (1);	0.986478	0.08291	N	0.968509	T	0.79759	0.4501	M	0.63843	1.955	0.22996	N	0.998452	D	0.65815	0.995	P	0.56960	0.81	T	0.67114	-0.5752	10	0.36615	T	0.2	.	11.2373	0.48949	0.0:0.8151:0.1849:0.0	.	150	P19397	CD53_HUMAN	M	150	ENSP00000271324:T150M	ENSP00000271324:T150M	T	+	2	0	CD53	111240823	0.000000	0.05858	0.245000	0.24217	0.699000	0.40488	0.567000	0.23608	2.511000	0.84671	0.491000	0.48974	ACG		0.428	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		T	111439300	C	T	111439300	3	4	73	1	0	0	0	0	1	0	0	0	3023	536	19	1	467	1	CD53	1	111439300	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	76211964	111439300	137811321	5	4840											
SPAG17	200162	broad.mit.edu	37	chr1	118558655	118558655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctgctattctttctaatCctttggtgccgatccgattt	6	18	7	10	2	3	0	0	0	3	0	5	2	5	0	3	1	2	1	3	1	2	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:118558655C>A	ENST00000336338.5	-	29	4285	c.4220G>T	c.(4219-4221)gGa>gTa	p.G1407V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1407						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTCTAATCCTTTGGTGCC	0.448																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4219-4221)gGa>gTa		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							162	174	170					1																	118558655		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558655C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4220G>T	1.37:g.118558655C>A	ENSP00000337804:p.Gly1407Val						p.G1407V	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	28	4288	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1407					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4220G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479271	0.44044	.	.	ENSG00000155761	ENST00000336338	T	0.27720	1.65	4.81	4.81	0.61882	.	0.189553	0.44097	D	0.000500	T	0.45458	0.1343	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.47018	-0.9149	10	0.62326	D	0.03	.	14.7986	0.69898	0.0:1.0:0.0:0.0	.	1407	Q6Q759	SPG17_HUMAN	V	1407	ENSP00000337804:G1407V	ENSP00000337804:G1407V	G	-	2	0	SPAG17	118360178	0.998000	0.40836	0.942000	0.38095	0.130000	0.20726	4.681000	0.61663	2.224000	0.72417	0.460000	0.39030	GGA		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118558655	C	A	118558655	3	1	73	1	0	0	0	0	1	0	0	0	14979	855	30	5	2531	5	SPAG17	1	118558655	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	7119355	118558655	130691966	6	4841											
FLG	2312	broad.mit.edu	37	chr1	152275641	152275641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatgactggctgtatcGcggtgagaggatccggggtg	7	10	17	7	3	0	2	0	2	0	1	2	4	1	3	1	5	1	3	1	5	2	2	rs374091552		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:152275641G>A	ENST00000368799.1	-	3	11756	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11719-11721)cgC>cgT		Homo sapiens filaggrin (FLG), mRNA.		A		1,4405	2.1+/-5.4	0,1,2202	97	97	97		11721	-4.5	0	1		97	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3907/4062	152275641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275641G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11721C>T	1.37:g.152275641G>A							p.R3907R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11757	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3907			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11721C>T	CCDS30860.1																																																																																				0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152275641	G	A	152275641	2	1	73	1	0	0	0	0	0	0	0	1	5922	1074	38	1		1	FLG	1	152275641	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	33716986	152275641	96974980	7	4842											
RIT1	6016	broad.mit.edu	37	chr1	155870206	155870206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actgaatctttcttcttccgGaatggtgattttagcctctt	7	18	7	9	1	4	2	0	2	4	0	5	3	5	3	2	2	1	0	2	2	3	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155870206G>C	ENST00000368323.3	-	6	837	c.633C>G	c.(631-633)ttC>ttG	p.F211L	RIT1_ENST00000539040.1_Missense_Mutation_p.F175L|RIT1_ENST00000368322.3_Missense_Mutation_p.F228L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	211					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCTTCTTCCGGAATGGTGATT	0.423																																						uc001fmh.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(631-633)ttC>ttG		Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.							259	266	264					1																	155870206		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870206G>C	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.633C>G	1.37:g.155870206G>C	ENSP00000357306:p.Phe211Leu					RIT1_uc010pgr.1_Missense_Mutation_p.F175L	p.F211L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	820	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		211					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.633C>G	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251973	0.39797	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.65549	-0.15;0.27;-0.16	5.13	4.22	0.49857	.	0.154615	0.45606	D	0.000355	T	0.20780	0.0500	N	0.08118	0	0.58432	D	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.08932	-1.0698	10	0.31617	T	0.26	.	7.9966	0.30271	0.2444:0.0:0.7556:0.0	.	211	Q92963	RIT1_HUMAN	L	211;175;228	ENSP00000357306:F211L;ENSP00000441950:F175L;ENSP00000357305:F228L	ENSP00000357305:F228L	F	-	3	2	RIT1	154136830	0.982000	0.34865	1.000000	0.80357	0.991000	0.79684	0.272000	0.18644	1.394000	0.46624	0.591000	0.81541	TTC		0.423	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		C	155870206	G	C	155870206	3	2	73	1	0	0	0	0	1	0	0	0	13386	1165	41	5	30	5	RIT1	1	155870206	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	3594565	155870206	93380415	8	4843											
IQGAP3	128239	broad.mit.edu	37	chr1	156503843	156503843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacggtgatgtacaccatGggtttggccacagccaccat	9	8	10	14	1	0	1	0	1	0	0	0	1	0	1	5	3	2	2	5	3	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:156503843G>A	ENST00000361170.2	-	30	3841	c.3831C>T	c.(3829-3831)ccC>ccT	p.P1277P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1277					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTACACCATGGGTTTGGCCA	0.592																																						uc001fpf.3																			0		p.P1277H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(3829-3831)ccC>ccT		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.							133	112	119					1																	156503843		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156503843G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3831C>T	1.37:g.156503843G>A							p.P1277P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			29	3906	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1277					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.3831C>T	CCDS1144.1																																																																																				0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		A	156503843	G	A	156503843	2	1	73	1	0	0	0	0	0	0	0	1	7816	1335	47	3		3	IQGAP3	1	156503843	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	633637	156503843	92746778	9	4844											
SLAMF1	6504	broad.mit.edu	37	chr1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctccttcctgctttcccGtatccccagggtgagattct	5	14	7	15	1	1	1	0	1	1	1	6	2	6	1	6	1	1	2	6	1	1	4	rs374126308		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						uc001fwl.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	127	123	124		322	1.2	0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp					SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	p.R108W	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	668	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			A	160607074	G	A	160607074	3	1	73	1	0	0	0	0	1	0	0	0	14367	1144	40	1	709	1	SLAMF1	1	160607074	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	4103231	160607074	88643547	10	4845											
PIKFYVE	200576	broad.mit.edu	37	chr2	209179975	209179975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgctccatagtgactcaCtgtcatcatcttggagggac	9	12	10	10	0	4	1	3	1	1	0	5	3	5	3	1	2	1	2	1	2	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:209179975C>G	ENST00000264380.4	+	15	2043	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	629					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGTGACTCACTGTCATCATC	0.423																																						uc002vcz.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1885-1887)Ctg>Gtg		Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.							126	98	108					2																	209179975		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209179975C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1885C>G	2.37:g.209179975C>G	ENSP00000264380:p.Leu629Val					PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	p.L629V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			14	2043	+			629					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1885C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350016	0.61183	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.79940	-1.32;-1.32	5.64	0.459	0.16678	.	0.000000	0.64402	D	0.000013	T	0.78966	0.4367	L	0.31526	0.94	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.80764	0.994;0.987	T	0.71695	-0.4515	10	0.13108	T	0.6	-10.1447	10.0891	0.42436	0.0:0.4997:0.0:0.5003	.	629;573	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	629;205;573	ENSP00000264380:L629V;ENSP00000405736:L573V	ENSP00000264380:L629V	L	+	1	2	PIKFYVE	208888220	0.436000	0.25586	0.999000	0.59377	0.930000	0.56654	0.407000	0.21049	0.118000	0.18165	-0.355000	0.07637	CTG		0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209179975	C	G	209179975	3	3	73	1	0	0	0	0	1	0	0	0	11924	564	20	5	1950	5	PIKFYVE	2	209179975	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		209179975	34019398	11	4846											
TNS1	7145	broad.mit.edu	37	chr2	218749762	218749762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaaggagcgcacctttGaaagcatcatcaaggtcctc	12	8	8	13	1	3	1	3	1	0	0	5	2	4	2	2	2	2	2	2	2	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:218749762G>T	ENST00000171887.4	-	14	1319	c.867C>A	c.(865-867)ttC>ttA	p.F289L	TNS1_ENST00000419504.1_Missense_Mutation_p.F289L|TNS1_ENST00000430930.1_Missense_Mutation_p.F289L|TNS1_ENST00000310858.6_Missense_Mutation_p.F320L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	289	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCGCACCTTTGAAAGCATCAT	0.572																																						uc002vgt.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(865-867)ttC>ttA		Homo sapiens tensin 1 (TNS1), mRNA.							110	92	98					2																	218749762		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218749762G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.867C>A	2.37:g.218749762G>T	ENSP00000171887:p.Phe289Leu					TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	p.F289L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	13	1265	-		Renal(207;0.0483)|Lung NSC(271;0.213)	289			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.867C>A	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.66|10.66	1.412706|1.412706	0.25465|0.25465	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858|ENST00000453356	D;D;D;D;D;D|.	0.84589|.	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87|.	4.82|4.82	3.94|3.94	0.45596|0.45596	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.227351|.	0.45126|.	D|.	0.000395|.	T|T	0.52517|0.52517	0.1739|0.1739	L|L	0.36672|0.36672	1.1|1.1	0.47341|0.47341	D|D	0.999394|0.999394	D;B;P;D;D;D|.	0.76494|.	0.989;0.423;0.483;0.999;0.992;0.992|.	P;P;B;D;D;P|.	0.76071|.	0.869;0.466;0.372;0.975;0.987;0.906|.	T|T	0.46148|0.46148	-0.9212|-0.9212	10|5	0.34782|.	T|.	0.22|.	.|.	10.1139|10.1139	0.42579|0.42579	0.1633:0.0:0.8367:0.0|0.1633:0.0:0.8367:0.0	.|.	289;343;320;289;289;289|.	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55|.	.;.;.;TENS1_HUMAN;.;.|.	L|K	289;289;289;414;357;320|65	ENSP00000171887:F289L;ENSP00000408724:F289L;ENSP00000406016:F289L;ENSP00000405460:F414L;ENSP00000400383:F357L;ENSP00000308321:F320L|.	ENSP00000171887:F289L|.	F|Q	-|-	3|1	2|0	TNS1|TNS1	218458007|218458007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.923000|0.923000	0.28757|0.28757	1.239000|1.239000	0.43787|0.43787	0.557000|0.557000	0.71058|0.71058	TTC|CAA		0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218749762	G	T	218749762	3	4	73	1	0	0	0	0	1	0	0	0	16340	1281	45	5	4420	5	TNS1	2	218749762	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	9569787	218749762	24449611	12	4847											
ITM2C	81618	broad.mit.edu	37	chr2	231740464	231740464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactacgagcgcatcaacGtgcctgtgccccagtttggc	9	8	11	13	3	1	1	1	0	0	1	1	2	1	1	3	1	6	2	3	1	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:231740464G>A	ENST00000326427.6	+	3	517	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000409704.2_Missense_Mutation_p.V69M|ITM2C_ENST00000335005.6_Missense_Mutation_p.V84M|ITM2C_ENST00000326407.6_Missense_Mutation_p.V131M	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	131					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCGCATCAACGTGCCTGTGCC	0.617																																						uc002vqz.3																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(391-393)Gtg>Atg		Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.							129	120	123					2																	231740464		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231740464G>A	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.391G>A	2.37:g.231740464G>A	ENSP00000322730:p.Val131Met					ITM2C_uc002vra.3_Missense_Mutation_p.V84M|ITM2C_uc002vrb.3_Missense_Mutation_p.V131M|ITM2C_uc002vrc.3_Missense_Mutation_p.V20M|ITM2C_uc002vrd.3_Missense_Mutation_p.V20M	p.V131M	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	511	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	131					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.391G>A	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412895	0.42817	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000326407;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T;T	0.60424	0.58;0.24;1.01;0.19;0.85;0.22;0.73;0.24	4.91	3.95	0.45737	.	0.065517	0.64402	D	0.000010	T	0.70561	0.3238	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.73380	0.98;0.884;0.894	T	0.72649	-0.4229	10	0.87932	D	0	-12.4899	7.3312	0.26584	0.1203:0.0:0.8797:0.0	.	131;84;131	Q9NQX7-3;Q9NQX7-2;Q9NQX7	.;.;ITM2C_HUMAN	M	131;69;131;84;131;69;69;69	ENSP00000390655:V131M;ENSP00000440295:V69M;ENSP00000322730:V131M;ENSP00000335121:V84M;ENSP00000322100:V131M;ENSP00000444899:V69M;ENSP00000387242:V69M;ENSP00000403257:V69M	ENSP00000322100:V131M	V	+	1	0	ITM2C	231448708	1.000000	0.71417	0.859000	0.33776	0.072000	0.16883	6.027000	0.70881	2.545000	0.85829	0.591000	0.81541	GTG		0.617	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		A	231740464	G	A	231740464	3	1	73	1	0	0	0	0	1	0	0	0	7914	1145	40	1	401	1	ITM2C	2	231740464	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	12990702	231740464	11458909	13	4848											
COL6A3	1293	broad.mit.edu	37	chr2	238275697	238275697	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgtgtcttccccctttGtagaccactttgttgatggc	4	16	10	11	1	1	2	0	1	1	1	2	2	2	2	3	2	0	2	3	2	1	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:238275697G>C	ENST00000295550.4	-	11	5585	c.5133C>G	c.(5131-5133)taC>taG	p.Y1711*	COL6A3_ENST00000472056.1_Nonsense_Mutation_p.Y1104*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.Y1505*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.Y1511*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.Y1510*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.Y1505*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1711	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCCCCTTTGTAGACCACTT	0.557																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5131-5133)taC>taG		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							91	75	80					2																	238275697		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275697G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5133C>G	2.37:g.238275697G>C	ENSP00000295550:p.Tyr1711*					COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	p.Y1711*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5418	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1711			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.5133C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	44	10.648513	0.99444	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.56	2.75	0.32379	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4286	0.32744	0.3623:0.0:0.6377:0.0	.	.	.	.	X	1711;1510;1505;1104;1505;1511	.	ENSP00000295550:Y1711X	Y	-	3	2	COL6A3	237940436	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.561000	0.45905	0.685000	0.31468	0.650000	0.86243	TAC		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238275697	G	C	238275697	4	2	73	1	0	0	0	0	0	1	0	0	3701	1372	48	5	4536	5	COL6A3	2	238275697	Nonsense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	6535233	238275697	4923676	14	4849											
ATP2B2	491	broad.mit.edu	37	chr3	10387071	10387071	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctgcggacccacctgCgtgatgcaggcgcctgtgaa	6	8	13	14	3	1	2	0	2	1	0	2	3	1	3	4	2	3	1	4	2	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:10387071C>T	ENST00000352432.4	-	17	2769	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP2B2_ENST00000383800.4_Silent_p.T855T|ATP2B2_ENST00000360273.2_Silent_p.T900T|ATP2B2_ENST00000343816.4_Silent_p.T886T|ATP2B2_ENST00000397077.1_Silent_p.T855T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	900					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GACCCACCTGCGTGATGCAGG	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2698-2700)acG>acA		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							90	74	79					3																	10387071		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10387071C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2700G>A	3.37:g.10387071C>T						ATP2B2_uc003bvv.3_Silent_p.T855T|ATP2B2_uc003bvw.3_Silent_p.T855T|ATP2B2_uc010hdo.3_Silent_p.T605T	p.T900T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			17	3139	-			900					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2700G>A	CCDS33701.1																																																																																				0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		T	10387071	C	T	10387071	2	4	73	1	0	0	0	0	0	0	0	1	1140	755	27	1		1	ATP2B2	3	10387071	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		10387071	187635359	15	4850											
CCDC52	152185	broad.mit.edu	37	chr3	113169336	113169336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgttcctccatactacctgGtgttagagactgtgctactg	7	13	9	12	1	0	1	0	0	0	1	2	2	2	1	4	1	4	3	4	1	4	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:113169336G>T	ENST00000295872.4	-	15	2429	c.2170C>A	c.(2170-2172)Cca>Aca	p.P724T		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	724					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATACTACCTGGTGTTAGAGAC	0.373																																						uc003eag.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2170-2172)Cca>Aca		Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.							99	94	96					3																	113169336		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113169336G>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2170C>A	3.37:g.113169336G>T	ENSP00000295872:p.Pro724Thr					SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.P620T	p.P724T	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			14	2461	-			724					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.2170C>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566217	0.27915	.	.	ENSG00000163611	ENST00000295872	T	0.35048	1.33	4.8	0.636	0.17729	.	0.405801	0.24649	N	0.036727	T	0.31918	0.0812	M	0.70275	2.135	0.09310	N	1	B;B	0.26809	0.16;0.002	B;B	0.31337	0.128;0.005	T	0.31166	-0.9953	10	0.52906	T	0.07	-3.1041	2.3486	0.04278	0.174:0.1498:0.5221:0.1541	.	620;724	B3KX77;Q8N0Z3	.;SPICE_HUMAN	T	724	ENSP00000295872:P724T	ENSP00000295872:P724T	P	-	1	0	SPICE1	114652026	0.689000	0.27690	0.019000	0.16419	0.220000	0.24768	1.042000	0.30303	0.191000	0.20236	-1.314000	0.01303	CCA		0.373	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		T	113169336	G	T	113169336	3	4	73	1	0	0	0	0	1	0	0	0	2822	1261	44	5	413	5	CCDC52	3	113169336	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	102782265	113169336	84853094	16	4851											
KIAA1257	57501	broad.mit.edu	37	chr3	128696988	128696988	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtattctcaatgccctgTtcagataattttctctgatt	8	19	6	8	0	3	2	2	1	2	1	5	2	3	2	1	1	1	2	1	1	3	8			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:128696988T>C	ENST00000265068.5	-	5	875	c.708A>G	c.(706-708)gaA>gaG	p.E236E	KIAA1257_ENST00000515659.1_Silent_p.E124E|KIAA1257_ENST00000511438.1_Silent_p.E236E|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358																																						uc003elj.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(706-708)gaA>gaG		Homo sapiens KIAA1257 (KIAA1257), mRNA.							136	130	132					3																	128696988		1876	4099	5975	SO:0001819	synonymous_variant	57501							g.chr3:128696988T>C	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.708A>G	3.37:g.128696988T>C						KIAA1257_uc003elg.1_Silent_p.E236E|KIAA1257_uc003eli.4_Silent_p.E124E	p.E236E	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			4	904	-			236					Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	c.708A>G	CCDS46905.1																																																																																				0.358	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		C	128696988	T	C	128696988	2	2	73	1	0	0	0	0	0	0	0	1	8218	1722	60	4		4	KIAA1257	3	128696988	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	15527652	128696988	69325442	17	4852											
CLDN18	51208	broad.mit.edu	37	chr3	137717743	137717743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgtcagggcttggggttCgtggtttcactgattgggat	4	14	16	7	1	2	1	2	1	0	0	3	2	2	2	1	5	0	3	1	5	0	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:137717743C>T	ENST00000343735.4	+	1	167	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	11					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557																																						uc003ero.1																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(31-33)ttC>ttT		Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.							125	101	109					3																	137717743		2203	4300	6503	SO:0001819	synonymous_variant	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717743C>T	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.33C>T	3.37:g.137717743C>T							p.F11F	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			0	86	+			11					A5PL21|Q96PH4	Silent	SNP	ENST00000343735.4	37	c.33C>T	CCDS33862.1																																																																																				0.557	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		T	137717743	C	T	137717743	2	4	73	1	0	0	0	0	0	0	0	1	3479	883	31	2		2	CLDN18	3	137717743	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	9020755	137717743	60304687	18	4853											
PLCH1	23007	broad.mit.edu	37	chr3	155203313	155203313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtggcctcggacacagaatCctttatctccaccatttctt	8	14	6	13	1	2	1	0	0	2	1	5	2	3	2	4	2	0	0	4	2	2	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:155203313C>T	ENST00000340059.7	-	22	2829	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Missense_Mutation_p.D906N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D944N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D906N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D906N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D924N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	944					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACACAGAATCCTTTATCTCC	0.522																																						uc021xge.1																			0		p.S944*(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2830-2832)Gat>Aat		Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.							159	148	152					3																	155203313		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203313C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2830G>A	3.37:g.155203313C>T	ENSP00000345988:p.Asp944Asn					PLCH1_uc021xgd.1_Missense_Mutation_p.D944N|PLCH1_uc021xgf.1_Missense_Mutation_p.D906N	p.D944N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		21	3107	-			944					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2830G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419707	0.96111	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35048	1.89;1.84;1.33;1.73;1.84;1.84	5.88	5.88	0.94601	.	0.264633	0.38436	N	0.001693	T	0.57198	0.2037	M	0.65498	2.005	0.58432	D	0.999998	D;B;B	0.59767	0.986;0.165;0.101	P;B;B	0.58454	0.839;0.081;0.096	T	0.55547	-0.8124	10	0.56958	D	0.05	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	906;944;944	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	924;906;944;944;906;906	ENSP00000419100:D924N;ENSP00000417502:D906N;ENSP00000402759:D944N;ENSP00000345988:D944N;ENSP00000335469:D906N;ENSP00000412977:D906N	ENSP00000335469:D906N	D	-	1	0	PLCH1	156686007	1.000000	0.71417	0.894000	0.35097	0.708000	0.40852	3.002000	0.49496	2.789000	0.95967	0.655000	0.94253	GAT		0.522	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		T	155203313	C	T	155203313	3	4	73	1	0	0	0	0	1	0	0	0	12037	855	30	3	2274	3	PLCH1	3	155203313	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	17485570	155203313	42819117	19	4854											
PEX5L	51555	broad.mit.edu	37	chr3	179526143	179526143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacagaacccctagacCtgtctgcaggtctgggtcga	9	8	13	11	1	2	2	0	0	2	2	3	4	2	3	3	3	3	1	3	3	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:179526143C>T	ENST00000467460.1	-	13	1765	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	PEX5L_ENST00000263962.8_Missense_Mutation_p.G477S|PEX5L_ENST00000476138.1_Missense_Mutation_p.G436S|PEX5L_ENST00000485199.1_Missense_Mutation_p.G444S|PEX5L_ENST00000464614.1_Missense_Mutation_p.G371S|PEX5L_ENST00000465751.1_Missense_Mutation_p.G455S|PEX5L_ENST00000468741.1_Missense_Mutation_p.G287S|PEX5L_ENST00000472994.1_Missense_Mutation_p.G420S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.G371S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	479					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCCCTAGACCTGTCTGCAGG	0.458																																						uc003fki.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1435-1437)Ggt>Agt		Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.							99	100	100					3																	179526143		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179526143C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1435G>A	3.37:g.179526143C>T	ENSP00000419975:p.Gly479Ser					PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	p.G479S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		12	1565	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		479					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1435G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603950	0.96626	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.999;1.0	T	0.70945	-0.4734	10	0.87932	D	0	-19.8978	20.8794	0.99867	0.0:1.0:0.0:0.0	.	420;455;371;477;444;479	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	S	479;477;444;477;371;287;436;367;420;371;455	ENSP00000419975:G479S;ENSP00000263962:G477S;ENSP00000418440:G444S;ENSP00000376420:G371S;ENSP00000418665:G287S;ENSP00000420555:G436S;ENSP00000418054:G420S;ENSP00000417270:G371S;ENSP00000419348:G455S	ENSP00000263962:G477S	G	-	1	0	PEX5L	181008837	1.000000	0.71417	0.942000	0.38095	0.920000	0.55202	7.747000	0.85070	2.941000	0.99782	0.655000	0.94253	GGT		0.458	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		T	179526143	C	T	179526143	3	4	73	1	0	0	0	0	1	0	0	0	11749	681	24	3	457	3	PEX5L	3	179526143	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	24322830	179526143	18496287	20	4855											
HTR3E	285242	broad.mit.edu	37	chr3	183823993	183823993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacccacctgctgcacGtggccaccacccagccccca	8	5	6	22	1	2	0	2	0	0	0	2	0	2	0	7	1	3	2	7	1	0	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:183823993G>A	ENST00000415389.2	+	8	1469	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	HTR3E_ENST00000440596.2_Missense_Mutation_p.V361M|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.V335M|HTR3E_ENST00000335304.2_Missense_Mutation_p.V350M|HTR3E_ENST00000425359.2_Missense_Mutation_p.V320M	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	335					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CCTGCTGCACGTGGCCACCAC	0.667																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1081-1083)Gtg>Atg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.							67	66	66					3																	183823993		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823993G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1003G>A	3.37:g.183823993G>A	ENSP00000401444:p.Val335Met					HTR3E_uc010hxq.3_Missense_Mutation_p.V335M|HTR3E_uc003fml.4_Missense_Mutation_p.V320M|HTR3E_uc003fmm.3_Missense_Mutation_p.V350M|HTR3E_uc003fmn.3_Missense_Mutation_p.V335M	p.V361M	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	1275	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		335					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1081G>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.497183	0.44352	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	3.4	0.0539	0.14308	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.051440	0.02013	U	0.047195	D	0.85788	0.5778	L	0.47716	1.5	0.21579	N	0.99963	B;D;D;D;D	0.59767	0.141;0.986;0.982;0.982;0.982	B;P;P;P;P	0.55713	0.067;0.748;0.61;0.782;0.717	T	0.72381	-0.4311	10	0.42905	T	0.14	.	10.6706	0.45755	0.0:0.3614:0.6386:0.0	.	361;335;335;350;320	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	M	335;320;350;335;361	ENSP00000401444:V335M;ENSP00000401900:V320M;ENSP00000335511:V350M;ENSP00000395833:V335M;ENSP00000406050:V361M	ENSP00000335511:V350M	V	+	1	0	HTR3E	185306687	0.570000	0.26651	0.999000	0.59377	0.804000	0.45430	-1.051000	0.03507	0.202000	0.20498	-0.311000	0.09066	GTG		0.667	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		A	183823993	G	A	183823993	3	1	73	1	0	0	0	0	1	0	0	0	7448	1145	40	1	1074	1	HTR3E	3	183823993	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	4297850	183823993	14198437	21	4856											
UNC5C	8633	broad.mit.edu	37	chr4	96199412	96199412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattgttgttattcacctCagccactgggatcccttcag	9	13	8	11	0	3	1	3	0	0	1	4	2	4	2	3	1	1	2	3	1	2	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:96199412C>T	ENST00000453304.1	-	4	940	c.592G>A	c.(592-594)Gag>Aag	p.E198K	UNC5C_ENST00000506749.1_Missense_Mutation_p.E198K|UNC5C_ENST00000504962.1_Missense_Mutation_p.E198K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	198	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTATTCACCTCAGCCACTGGG	0.453																																						uc003hto.3																			0		p.A197D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(592-594)Gag>Aag		Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.							134	120	125					4																	96199412		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96199412C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.592G>A	4.37:g.96199412C>T	ENSP00000406022:p.Glu198Lys					UNC5C_uc010ilc.2_Missense_Mutation_p.E198K|UNC5C_uc003htq.3_Missense_Mutation_p.E198K	p.E198K	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	945	-		Hepatocellular(203;0.114)	198			Ig-like C2-type.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.592G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448036	0.84101	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.47716	1.5	0.80722	D	1	B;P;B	0.38617	0.201;0.64;0.409	B;B;B	0.40602	0.297;0.334;0.253	T	0.68644	-0.5354	10	0.59425	D	0.04	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	198;198;198	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	198;157;198;198;198	ENSP00000406022:E198K;ENSP00000426924:E198K;ENSP00000426153:E198K;ENSP00000425117:E198K	ENSP00000328673:E157K	E	-	1	0	UNC5C	96418435	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.776000	0.85560	2.654000	0.90174	0.563000	0.77884	GAG		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96199412	C	T	96199412	3	4	73	1	0	0	0	0	1	0	0	0	16990	835	29	3	2255	3	UNC5C	4	96199412	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		96199412	94954864	22	4857											
ANK2	287	broad.mit.edu	37	chr4	114277204	114277204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagccctgttgaaccaaAgatgaaggctggaatttttc	13	10	10	8	0	0	3	0	2	0	1	1	4	0	4	2	2	3	3	2	2	5	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:114277204A>T	ENST00000357077.4	+	38	7483	c.7430A>T	c.(7429-7431)aAg>aTg	p.K2477M	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K2444M|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2477					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGAACCAAAGATGAAGGCT	0.502																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7429-7431)aAg>aTg		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							76	78	77					4																	114277204		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277204A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7430A>T	4.37:g.114277204A>T	ENSP00000349588:p.Lys2477Met					ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2492M	p.K2477M	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	37	7530	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2444					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7430A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917534	0.52546	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70399	-0.47;-0.48	6.06	4.88	0.63580	.	0.000000	0.64402	D	0.000014	T	0.77287	0.4108	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65874	0.817;0.939	T	0.76203	-0.3045	9	.	.	.	.	5.9267	0.19116	0.6079:0.255:0.1371:0.0	.	2444;2477	Q01484;Q01484-4	ANK2_HUMAN;.	M	2477;2444	ENSP00000349588:K2477M;ENSP00000264366:K2444M	.	K	+	2	0	ANK2	114496653	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	1.459000	0.35234	1.121000	0.41925	0.533000	0.62120	AAG		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114277204	A	T	114277204	3	4	73	1	0	0	0	0	1	0	0	0	621	72	3	5	7645	5	ANK2	4	114277204	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	18077792	114277204	76877072	23	4858											
IL2	3558	broad.mit.edu	37	chr4	123374886	123374886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagttccagaactattacGttgatattgctgattaagtc	11	17	7	6	1	0	3	0	2	0	1	2	3	1	3	1	0	3	3	1	0	6	9			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:123374886G>A	ENST00000226730.4	-	3	614	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	110					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	GAACTATTACGTTGATATTGC	0.353			T	TNFRSF17	intestinal T-cell lymphoma																																	uc003ier.3				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(328-330)aaC>aaT		Homo sapiens interleukin 2 (IL2), mRNA.							142	141	141					4																	123374886		2203	4300	6503	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123374886G>A	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"Interleukins and interleukin receptors"	6001	protein-coding gene	gene with protein product	"T cell growth factor"	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.330C>T	4.37:g.123374886G>A							p.N110N	NM_000586	NP_000577	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	2	385	-			110					P01585	Silent	SNP	ENST00000226730.4	37	c.330C>T	CCDS3726.1																																																																																				0.353	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			A	123374886	G	A	123374886	2	1	73	1	0	0	0	0	0	0	0	1	7666	1136	40	1		1	IL2	4	123374886	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	9097682	123374886	67779390	24	4859											
RBM46	166863	broad.mit.edu	37	chr4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaataattatgaaattCgaccagggaagtttattggt	13	16	8	4	1	1	1	0	1	1	0	2	3	1	2	1	2	0	1	1	2	6	8			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:155719190C>T	ENST00000281722.3	+	3	614	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.R127*|RBM46_ENST00000510397.1_Nonsense_Mutation_p.R127*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338																																						uc003ioo.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(379-381)Cga>Tga		Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.							82	90	87					4																	155719190		2203	4300	6503	SO:0001587	stop_gained	166863						nucleotide binding|RNA binding	g.chr4:155719190C>T	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.379C>T	4.37:g.155719190C>T	ENSP00000281722:p.Arg127*					RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			2	552	+	all_hematologic(180;0.24)	Renal(120;0.0854)	127			RRM 1.		B3KWU8|B4DZ27	Nonsense_Mutation	SNP	ENST00000281722.3	37	c.379C>T	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938892	0.73557	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	.	.	.	5.9	2.09	0.27110	.	0.054398	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4395	11.936	0.52874	0.3485:0.5395:0.112:0.0	.	.	.	.	X	127	.	ENSP00000281722:R127X	R	+	1	2	RBM46	155938640	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	2.556000	0.45862	0.067000	0.16545	0.563000	0.77884	CGA		0.338	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		T	155719190	C	T	155719190	4	4	73	1	0	0	0	0	0	1	0	0	13140	876	31	2	385	2	RBM46	4	155719190	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	32344304	155719190	35435086	25	4860											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632019	156632019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacggaagtggaagtgtcGttaatgcctccctgcttcca	10	10	11	10	2	0	0	0	0	0	0	3	3	2	2	3	2	3	2	3	2	4	2	rs545740746		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:156632019G>A	ENST00000296518.7	+	6	911	c.702G>A	c.(700-702)tcG>tcA	p.S234S	GUCY1A3_ENST00000506455.1_Silent_p.S234S|GUCY1A3_ENST00000455639.2_Silent_p.S234S|GUCY1A3_ENST00000511507.1_Silent_p.S234S|GUCY1A3_ENST00000513574.1_Silent_p.S234S|GUCY1A3_ENST00000511108.1_Silent_p.S234S|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	234					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGGAAGTGTCGTTAATGCCTC	0.468													G|||	1	0.000199681	0	0	5008	,	,		19768	0		0	False		,,,				2504	0.001					uc003iov.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(700-702)tcG>tcA		Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.							124	117	119					4																	156632019		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632019G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.702G>A	4.37:g.156632019G>A						GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc010iqd.3_Silent_p.S233S|GUCY1A3_uc003iow.3_Silent_p.S234S|GUCY1A3_uc003iox.3_Silent_p.S234S|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.S234S|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.S234S	p.S234S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	1238	+	all_hematologic(180;0.24)	Renal(120;0.0854)	234					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.702G>A	CCDS34085.1																																																																																				0.468	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156632019	G	A	156632019	2	1	73	1	0	0	0	0	0	0	0	1	6894	1132	40	1		1	GUCY1A3	4	156632019	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	912829	156632019	34522257	26	4861											
KIAA0947	23379	broad.mit.edu	37	chr5	5464633	5464633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgcacttcctgtgcctgGccgactcccaccctgtgcat	5	9	9	18	2	0	0	0	0	0	0	2	1	2	0	5	1	2	3	5	1	0	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:5464633G>T	ENST00000296564.7	+	13	5408	c.5186G>T	c.(5185-5187)gGc>gTc	p.G1729V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1729	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTGTGCCTGGCCGACTCCCA	0.587																																						uc003jdm.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(5185-5187)gGc>gTc		Homo sapiens KIAA0947 (KIAA0947), mRNA.							43	45	44					5																	5464633		2079	4214	6293	SO:0001583	missense	23379							g.chr5:5464633G>T																												ENST00000296564.7:c.5186G>T	5.37:g.5464633G>T	ENSP00000296564:p.Gly1729Val						p.G1729V	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			12	5408	+			1729			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.5186G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517613	0.85495	.	.	ENSG00000164151	ENST00000296564	T	0.49720	0.77	5.47	5.47	0.80525	.	.	.	.	.	T	0.66287	0.2774	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68364	-0.5428	9	0.87932	D	0	-10.661	16.8165	0.85735	0.0:0.0:1.0:0.0	.	1729	Q9Y2F5	K0947_HUMAN	V	1729	ENSP00000296564:G1729V	ENSP00000296564:G1729V	G	+	2	0	KIAA0947	5517633	1.000000	0.71417	0.954000	0.39281	0.774000	0.43823	9.040000	0.93783	2.559000	0.86315	0.460000	0.39030	GGC		0.587	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5464633	G	T	5464633	3	4	73	1	0	0	0	0	1	0	0	0	8202	1203	42	5	5236	5	KIAA0947	5	5464633	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		5464633	175450627	27	4862											
CDH9	1007	broad.mit.edu	37	chr5	26885950	26885950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactgtagccatctttcCgagtcatgattcctgctgta	7	14	9	11	2	2	1	1	1	1	0	4	3	4	1	3	0	3	3	3	0	2	4	rs150128137		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:26885950C>T	ENST00000231021.4	-	11	1827	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R552Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCATCTTTCCGAGTCATGAT	0.343													C|||	1	0.000199681	0	0	5008	,	,		17451	0		0.001	False		,,,				2504	0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)	p.R552Q(2)	prostate(1)	breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1654-1656)cGg>cAg		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61	62	61		1655	4.9	1	5	dbSNP_134	61	0,8600		0,0,4300	yes	missense	CDH9	NM_016279.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	552/790	26885950	1,13005	2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885950C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1655G>A	5.37:g.26885950C>T	ENSP00000231021:p.Arg552Gln					CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	p.R552Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1824	-			552			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1655G>A	CCDS3893.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.958663	0.74016	2.27E-4	0.0	ENSG00000113100	ENST00000231021	T	0.19938	2.11	5.79	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.056327	0.64402	D	0.000002	T	0.23766	0.0575	M	0.73319	2.225	0.39015	D	0.959638	B;P	0.46784	0.35;0.884	B;B	0.41332	0.206;0.354	T	0.03545	-1.1026	9	.	.	.	.	9.2761	0.37700	0.0:0.7769:0.1462:0.0769	.	145;552	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Q	552	ENSP00000231021:R552Q	.	R	-	2	0	CDH9	26921707	0.883000	0.30277	0.999000	0.59377	0.979000	0.70002	2.664000	0.46783	2.740000	0.93945	0.563000	0.77884	CGG		0.343	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26885950	C	T	26885950	3	4	73	1	0	0	0	0	1	0	0	0	3117	652	23	2	722	2	CDH9	5	26885950	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	21421317	26885950	154029310	28	4863											
PCDHA12	56137	broad.mit.edu	37	chr5	140256671	140256671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgacgccggcgtgccgcctct	4	6	15	16	8	1	1	0	1	1	0	2	2	2	1	4	2	2	1	4	2	0	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1612-1614)cgC>cgT		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.							76	84	81					5																	140256671		2203	4298	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140256671C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1614C>T	5.37:g.140256671C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.R538R	p.R538R	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1741	+			552			Cadherin 5.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1614C>T	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		T	140256671	C	T	140256671	2	4	73	1	0	0	0	0	0	0	0	1	11522	755	27	1		1	PCDHA12	5	140256671	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	113370721	140256671	40658589	29	4864											
PPP2R2B	5521	broad.mit.edu	37	chr5	146030195	146030195	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatagtcgctgttgacAgatatggagttgatgtgata	10	15	12	4	1	1	4	1	3	0	1	2	5	1	5	0	1	0	4	0	1	3	6	rs146742970	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:146030195A>T	ENST00000394413.3	-	5	1110	c.540T>A	c.(538-540)tcT>tcA	p.S180S	PPP2R2B_ENST00000394411.4_Silent_p.S180S|PPP2R2B_ENST00000453001.1_Silent_p.S180S|PPP2R2B_ENST00000356826.3_Silent_p.S180S|PPP2R2B_ENST00000394410.2_Silent_p.S169S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.S238S|PPP2R2B_ENST00000336640.6_Silent_p.S183S|PPP2R2B_ENST00000504198.1_Silent_p.S186S|PPP2R2B_ENST00000394414.1_Silent_p.S246S|PPP2R2B_ENST00000508545.2_Silent_p.S169S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	180					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGTTGACAGATATGGAGT	0.458																																						uc011dbv.2																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(712-714)tcT>tcA		Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.		A	,,,,,,	0,4406		0,0,2203	237	196	210		540,540,540,540,549,480,507	-12	0	5	dbSNP_134	210	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	,,,,,,	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	,,,,,,	180/444,180/444,180/444,180/444,183/447,160/424,169/433	146030195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146030195A>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.540T>A	5.37:g.146030195A>T						PPP2R2B_uc010jgm.3_Silent_p.S169S|PPP2R2B_uc003loe.3_Silent_p.S180S|PPP2R2B_uc003log.4_Silent_p.S180S|PPP2R2B_uc003lof.4_Silent_p.S180S|PPP2R2B_uc003loi.4_Silent_p.S183S|PPP2R2B_uc003loh.4_Silent_p.S180S|PPP2R2B_uc003lok.4_Silent_p.S169S|PPP2R2B_uc003loj.4_Silent_p.S160S|PPP2R2B_uc011dbu.2_Silent_p.S186S	p.S238S	NM_181675	NP_858061	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	977	-			180					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.714T>A	CCDS4284.1																																																																																				0.458	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		T	146030195	A	T	146030195	2	4	73	1	0	0	0	0	0	0	0	1	12385	175	7	5		5	PPP2R2B	5	146030195	Silent	SNP	A	TCGA-06-1804-01A-01D-1696-08	5773524	146030195	34885065	30	4865											
FAM71B	153745	broad.mit.edu	37	chr5	156589483	156589483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatttggtttcaaagacgAtcatctccgtcttctcggat	8	15	9	9	3	5	1	2	0	3	1	7	4	5	3	1	3	0	1	1	3	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:156589483A>G	ENST00000302938.4	-	2	1888	c.1793T>C	c.(1792-1794)aTc>aCc	p.I598T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	598						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGACGATCATCTCCGT	0.517																																						uc003lwn.3																			0		p.I598I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1792-1794)aTc>aCc		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.							183	182	183					5																	156589483		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589483A>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1793T>C	5.37:g.156589483A>G	ENSP00000305596:p.Ile598Thr						p.I598T	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1893	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	598					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1793T>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	9.062	0.994834	0.19043	.	.	ENSG00000170613	ENST00000302938	T	0.20069	2.1	4.13	2.98	0.34508	.	0.000000	0.44097	D	0.000499	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.16928	-1.0386	10	0.54805	T	0.06	-26.0266	6.5487	0.22420	0.892:0.0:0.108:0.0	.	598	Q8TC56	FA71B_HUMAN	T	598	ENSP00000305596:I598T	ENSP00000305596:I598T	I	-	2	0	FAM71B	156522061	0.040000	0.19996	0.007000	0.13788	0.023000	0.10783	2.274000	0.43390	0.923000	0.37045	-0.274000	0.10170	ATC		0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		G	156589483	A	G	156589483	3	3	73	1	0	0	0	0	1	0	0	0	5608	333	12	4	28	4	FAM71B	5	156589483	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	10559288	156589483	24325777	31	4866											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1708-1710)Cgg>Tgg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.							114	102	106					6																	43403588		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403588C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp					ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	p.R570W	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	1923	+	all_lung(25;0.00536)		570					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1708C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43403588	C	T	43403588	3	4	73	1	0	0	0	0	1	0	0	0	50	643	23	2	1589	2	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		43403588	127711479	32	4867											
PKHD1	5314	broad.mit.edu	37	chr6	51523897	51523897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgataaggatgaaatcattCcagtgctccttactgttggc	10	14	9	8	0	1	2	1	2	0	0	3	3	3	3	2	2	2	2	2	2	3	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:51523897C>T	ENST00000371117.3	-	61	11302	c.11027G>A	c.(11026-11028)gGa>gAa	p.G3676E		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3676					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAAATCATTCCAGTGCTCCT	0.403																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11026-11028)gGa>gAa		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							175	162	167					6																	51523897		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51523897C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11027G>A	6.37:g.51523897C>T	ENSP00000360158:p.Gly3676Glu						p.G3676E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			60	11303	-	Lung NSC(77;0.0605)		3676					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11027G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.346481	0.00219	.	.	ENSG00000170927	ENST00000371117	D	0.85258	-1.96	6.03	1.61	0.23674	.	0.868203	0.10263	N	0.695757	T	0.51024	0.1650	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	10	0.10902	T	0.67	.	5.829	0.18570	0.149:0.5654:0.0:0.2856	.	3676	P08F94	PKHD1_HUMAN	E	3676	ENSP00000360158:G3676E	ENSP00000360158:G3676E	G	-	2	0	PKHD1	51631856	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.074000	0.11450	0.387000	0.25024	-0.274000	0.10170	GGA		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51523897	C	T	51523897	3	4	73	1	0	0	0	0	1	0	0	0	11971	855	30	3	1225	3	PKHD1	6	51523897	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	8120309	51523897	119591170	33	4868											
ZNF292	23036	broad.mit.edu	37	chr6	87865454	87865454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgtggaagcggccaccGactactgtcagcagctgtgc	7	6	14	14	4	1	0	1	0	0	0	1	2	1	1	3	3	5	2	3	3	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:87865454G>T	ENST00000369577.3	+	1	188	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	ZNF292_ENST00000392985.3_Missense_Mutation_p.D49Y|RP11-393I2.4_ENST00000606274.1_RNA|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Missense_Mutation_p.D49Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	49						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCGGCCACCGACTACTGTCA	0.726																																						uc003plm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(145-147)Gac>Tac		Homo sapiens zinc finger protein 292 (ZNF292), mRNA.							7	10	9					6																	87865454		1858	4036	5894	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87865454G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.145G>T	6.37:g.87865454G>T	ENSP00000358590:p.Asp49Tyr					ZNF292_uc003plk.3_Non-coding_Transcript|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	p.D49Y	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	0	186	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	49					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.145G>T	CCDS47457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824502|2.824502	0.50739|0.50739	.|.	.|.	ENSG00000188994|ENSG00000188994	ENST00000392985;ENST00000369577;ENST00000518845;ENST00000339907|ENST00000496806	T;T|T	0.07021|0.55413	3.23;3.24|0.52	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	.|.	.|.	.|.	.|.	T|T	0.27832|0.27832	0.0685|0.0685	N|N	0.08118|0.08118	0|0	0.30415|0.30415	N|N	0.778688|0.778688	B;B|.	0.15719|.	0.009;0.014|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.40156|0.40156	-0.9578|-0.9578	9|7	0.72032|0.46703	D|T	0.01|0.11	.|.	17.4216|17.4216	0.87516|0.87516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;49|.	O60281;Q6ZW83|.	ZN292_HUMAN;.|.	Y|L	49|39	ENSP00000358590:D49Y;ENSP00000342847:D49Y|ENSP00000428857:R39L	ENSP00000342847:D49Y|ENSP00000428857:R39L	D|R	+|+	1|2	0|0	ZNF292|ZNF292	87922173|87922173	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.970000|0.970000	0.65996|0.65996	4.061000|4.061000	0.57485|0.57485	2.330000|2.330000	0.79161|0.79161	0.549000|0.549000	0.68633|0.68633	GAC|CGA		0.726	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87865454	G	T	87865454	3	4	73	1	0	0	0	0	1	0	0	0	17823	1058	37	5	147	5	ZNF292	6	87865454	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	36341557	87865454	83249613	34	4869											
GPR6	2830	broad.mit.edu	37	chr6	110300407	110300407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagcagcaggggggcCggacacgggcgaatggggac	9	1	20	11	3	0	0	0	0	0	0	0	3	0	2	2	8	2	2	2	8	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:110300407C>T	ENST00000275169.3	+	1	110	c.92C>T	c.(91-93)cCg>cTg	p.P31L	GPR6_ENST00000414000.2_Missense_Mutation_p.P46L	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		gcaggggggccggACACGGGC	0.736																																						uc011eav.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(136-138)cCg>cTg		Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.							15	21	19					6																	110300407		1780	3779	5559	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110300407C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.92C>T	6.37:g.110300407C>T	ENSP00000275169:p.Pro31Leu					GPR6_uc011eaw.2_Missense_Mutation_p.P31L|GPR6_uc003ptu.3_Missense_Mutation_p.P31L|GPR6_uc021zds.1_Missense_Mutation_p.P31L	p.P46L	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	381	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	31					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.137C>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546500	0.27652	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.71934	-0.61;-0.58	4.65	3.78	0.43462	.	.	.	.	.	T	0.29355	0.0731	N	0.08118	0	0.37774	D	0.92678	B;B	0.15141	0.012;0.003	B;B	0.10450	0.005;0.001	T	0.16928	-1.0386	9	0.49607	T	0.09	.	5.8366	0.18611	0.0:0.5794:0.3007:0.1199	.	46;31	B4DHS9;P46095	.;GPR6_HUMAN	L	31;46;31	ENSP00000406986:P46L;ENSP00000275169:P31L	ENSP00000275169:P31L	P	+	2	0	GPR6	110407100	0.000000	0.05858	0.559000	0.28332	0.005000	0.04900	-0.314000	0.08092	1.159000	0.42565	0.563000	0.77884	CCG		0.736	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			T	110300407	C	T	110300407	3	4	73	1	0	0	0	0	1	0	0	0	6701	652	23	2	94	2	GPR6	6	110300407	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	22434953	110300407	60814660	35	4870											
EGFR	1956	broad.mit.edu	37	chr7	55221722	55221722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgccgcaaattccgaGacgaagccacgtgcaaggac	12	5	12	12	4	1	1	0	0	1	1	2	4	2	2	3	2	3	2	3	2	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:55221722G>T	ENST00000275493.2	+	7	943	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	EGFR_ENST00000442591.1_Missense_Mutation_p.D256Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D203Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D256Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D256Y|EGFR_ENST00000455089.1_Missense_Mutation_p.D211Y|EGFR_ENST00000344576.2_Missense_Mutation_p.D256Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAATTCCGAGACGAAGCCAC	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)|p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(766-768)Gac>Tac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						199	157	171					7																	55221722		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221722G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.766G>T	7.37:g.55221722G>T	ENSP00000275493:p.Asp256Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.D256Y|EGFR_uc003tqi.3_Missense_Mutation_p.D256Y|EGFR_uc003tqj.3_Missense_Mutation_p.D256Y|EGFR_uc022adm.1_Missense_Mutation_p.D256Y|EGFR_uc010kzg.2_Missense_Mutation_p.D211Y|EGFR_uc022adn.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.2_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.D256Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1012	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		256					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.766G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637756	0.67130	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.999;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.927;0.976;1.0;0.998;0.944	T	0.75557	-0.3276	10	0.62326	D	0.03	.	18.6435	0.91402	0.0:0.0:1.0:0.0	.	211;256;256;256;256	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	211;256;126;256;256;256;256;203;50	ENSP00000415559:D211Y;ENSP00000342376:D256Y;ENSP00000345973:D256Y;ENSP00000413843:D256Y;ENSP00000275493:D256Y;ENSP00000410031:D256Y;ENSP00000395243:D203Y	ENSP00000275493:D256Y	D	+	1	0	EGFR	55189216	1.000000	0.71417	0.991000	0.47740	0.226000	0.24999	7.970000	0.88000	2.752000	0.94435	0.467000	0.42956	GAC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221722	G	T	55221722	3	4	73	1	0	0	0	0	1	0	0	0	4967	942	33	5	792	5	EGFR	7	55221722	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		55221722	103916941	36	4871											
MYL10	93408	broad.mit.edu	37	chr7	101256837	101256837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacatctgggggaaatgctGcaaacatctgcttgacctga	12	9	10	10	0	2	2	0	2	2	0	2	3	2	3	1	2	4	3	1	2	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:101256837G>A	ENST00000223167.4	-	8	776	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	200	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GGGAAATGCTGCAAACATCTG	0.562																																					Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(598-600)gCa>gTa		Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.							141	120	127					7																	101256837		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101256837G>A	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.599C>T	7.37:g.101256837G>A	ENSP00000223167:p.Ala200Val						p.A200V	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			7	777	-			200			EF-hand 3.			Missense_Mutation	SNP	ENST00000223167.4	37	c.599C>T	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156223	0.38021	.	.	ENSG00000106436	ENST00000223167	T	0.79554	-1.28	4.84	3.95	0.45737	EF-hand-like domain (1);	0.153523	0.40144	N	0.001180	T	0.81908	0.4922	M	0.82323	2.585	0.34076	D	0.659001	B	0.26120	0.142	B	0.30179	0.112	D	0.85013	0.0907	10	0.59425	D	0.04	.	12.3057	0.54900	0.0:0.0:0.8294:0.1706	.	200	Q9BUA6	MYL10_HUMAN	V	200	ENSP00000223167:A200V	ENSP00000223167:A200V	A	-	2	0	MYL10	101043557	0.995000	0.38212	0.776000	0.31678	0.422000	0.31414	5.308000	0.65768	1.021000	0.39600	0.650000	0.86243	GCA		0.562	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		A	101256837	G	A	101256837	3	1	73	1	0	0	0	0	1	0	0	0	10044	1319	46	3	85	3	MYL10	7	101256837	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	46035115	101256837	57881826	37	4872											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653409	121653409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacagaggtagtgatggcTtatccattcataagtgtatg	12	13	11	5	0	1	3	1	2	0	1	2	3	2	3	1	2	0	3	1	2	4	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:121653409T>A	ENST00000393386.2	+	12	4720	c.4309T>A	c.(4309-4311)Tta>Ata	p.L1437I	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1437					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTGATGGCTTATCCATTCA	0.418																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4309-4311)Tta>Ata		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							81	73	76					7																	121653409		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653409T>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4309T>A	7.37:g.121653409T>A	ENSP00000377047:p.Leu1437Ile					PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	p.L1437I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			11	4704	+			1437					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4309T>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458722	0.26248	.	.	ENSG00000106278	ENST00000393386	T	0.49432	0.78	5.61	0.183	0.15082	.	0.622969	0.14650	N	0.306665	T	0.35098	0.0920	L	0.51422	1.61	0.45883	D	0.998738	B	0.06786	0.001	B	0.10450	0.005	T	0.08576	-1.0715	10	0.38643	T	0.18	.	3.6127	0.08066	0.0978:0.1196:0.202:0.5806	.	1437	P23471	PTPRZ_HUMAN	I	1437	ENSP00000377047:L1437I	ENSP00000377047:L1437I	L	+	1	2	PTPRZ1	121440645	0.920000	0.31207	0.118000	0.21660	0.933000	0.57130	0.422000	0.21296	-0.397000	0.07691	-1.162000	0.01777	TTA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121653409	T	A	121653409	3	1	73	1	0	0	0	0	1	0	0	0	12814	1606	56	5	4355	5	PTPRZ1	7	121653409	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	20396572	121653409	37485254	38	4873											
UBE3C	9690	broad.mit.edu	37	chr7	157046771	157046771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcactgcctggctttcCgccagggccttgccaatgtc	5	9	11	16	1	0	0	0	0	0	0	2	0	1	0	6	2	3	2	6	2	1	2	rs142140245		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:157046771C>T	ENST00000348165.5	+	20	3178	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	940	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTGGCTTTCCGCCAGGGCCT	0.562																																						uc010lqs.3																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2818-2820)Cgc>Tgc		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.		C	CYS/ARG	0,4406		0,0,2203	56	53	54		2818	-2.1	0.1	7	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBE3C	NM_014671.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	940/1084	157046771	1,13005	2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157046771C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2818C>T	7.37:g.157046771C>T	ENSP00000309198:p.Arg940Cys					UBE3C_uc003wni.4_Missense_Mutation_p.R303C	p.R940C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	3130	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	940			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2818C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996753	0.54147	0.0	1.16E-4	ENSG00000009335	ENST00000348165	T	0.51325	0.71	5.31	-2.06	0.07298	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.75448	-0.3314	10	0.52906	T	0.07	.	19.4155	0.94694	0.7469:0.2531:0.0:0.0	.	940;793	Q15386;B4DHJ9	UBE3C_HUMAN;.	C	940	ENSP00000309198:R940C	ENSP00000309198:R940C	R	+	1	0	UBE3C	156739532	0.993000	0.37304	0.088000	0.20740	0.667000	0.39255	0.377000	0.20552	-0.544000	0.06232	-1.014000	0.02459	CGC		0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		T	157046771	C	T	157046771	3	4	73	1	0	0	0	0	1	0	0	0	16878	652	23	2	2896	2	UBE3C	7	157046771	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	35393362	157046771	2091892	39	4874											
ADAM28	10863	broad.mit.edu	37	chr8	24200682	24200682	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaattgctcatctaagtgCaaaggacatgctgtaagttc	13	11	8	9	0	2	0	1	0	1	0	3	1	2	1	1	1	3	5	1	1	4	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:24200682C>A	ENST00000265769.4	+	17	2009	c.1899C>A	c.(1897-1899)tgC>tgA	p.C633*	ADAM28_ENST00000397649.3_Nonsense_Mutation_p.C380*|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	633	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CATCTAAGTGCAAAGGACATG	0.358																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1897-1899)tgC>tgA		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.							129	118	122					8																	24200682		2203	4300	6503	SO:0001587	stop_gained	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24200682C>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1899C>A	8.37:g.24200682C>A	ENSP00000265769:p.Cys633*					ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Nonsense_Mutation_p.C320*	p.C633*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1982	+		Prostate(55;0.0959)	633			EGF-like.		B2RMV5|Q9Y339|Q9Y3S0	Nonsense_Mutation	SNP	ENST00000265769.4	37	c.1899C>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.855502|5.855502	0.97030|0.97030	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649|ENST00000521629;ENST00000518326	.|.	.|.	.|.	5.36|5.36	3.54|3.54	0.40534|0.40534	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50939	.|0.1645	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60347	.|-0.7281	.|3	0.02654|.	T|.	1|.	.|.	9.0962|9.0962	0.36640|0.36640	0.0:0.8224:0.0:0.1776|0.0:0.8224:0.0:0.1776	.|.	.|.	.|.	.|.	X|K	633;380|266;59	.|.	ENSP00000265769:C633X|.	C|Q	+|+	3|1	2|0	ADAM28|ADAM28	24256627|24256627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	1.395000|1.395000	0.34520|0.34520	1.252000|1.252000	0.44001|0.44001	0.655000|0.655000	0.94253|0.94253	TGC|CAA		0.358	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		A	24200682	C	A	24200682	4	1	73	1	0	0	0	0	0	1	0	0	246	718	25	5	2021	5	ADAM28	8	24200682	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		24200682	122163340	40	4875											
DOCK5	80005	broad.mit.edu	37	chr8	25203034	25203034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgacagaccagctcagCggccagttagatgacaactc	11	7	10	13	1	1	4	1	2	0	2	2	4	1	4	2	1	4	3	2	1	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:25203034C>T	ENST00000276440.7	+	26	2705	c.2661C>T	c.(2659-2661)agC>agT	p.S887S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	887					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACCAGCTCAGCGGCCAGTTAG	0.557																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2659-2661)agC>agT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							131	113	119					8																	25203034		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25203034C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2661C>T	8.37:g.25203034C>T						DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.3_Silent_p.S457S|DOCK5_uc003xej.3_Non-coding_Transcript	p.S887S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	25	2798	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	887					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2661C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248243	0.22880	.	.	ENSG00000147459	ENST00000444569	.	.	.	6.17	-1.06	0.10002	.	.	.	.	.	T	0.65863	0.2732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63703	-0.6577	4	.	.	.	.	14.3278	0.66532	0.0:0.5495:0.0:0.4505	.	.	.	.	W	659	.	.	R	+	1	2	DOCK5	25258951	0.572000	0.26668	0.990000	0.47175	0.964000	0.63967	-0.220000	0.09215	-0.237000	0.09739	-0.940000	0.02684	CGG		0.557	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25203034	C	T	25203034	2	4	73	1	0	0	0	0	0	0	0	1	4690	767	27	1		1	DOCK5	8	25203034	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	1002352	25203034	121160988	41	4876											
TGS1	96764	broad.mit.edu	37	chr8	56699365	56699365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacctattatggttgAtaatgatagctctggtacaa	12	15	7	7	0	3	2	1	2	2	0	3	2	3	2	1	2	2	3	1	2	6	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:56699365A>G	ENST00000260129.5	+	4	1385	c.908A>G	c.(907-909)gAt>gGt	p.D303G		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	303					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTATGGTTGATAATGATAGC	0.333																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(907-909)gAt>gGt		Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.							84	81	82					8																	56699365		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699365A>G	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.908A>G	8.37:g.56699365A>G	ENSP00000260129:p.Asp303Gly					TGS1_uc010lyh.3_Missense_Mutation_p.D207G	p.D303G	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		3	1295	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	303					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.908A>G	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	9.002	0.980463	0.18812	.	.	ENSG00000137574	ENST00000260129	T	0.17054	2.3	5.79	0.242	0.15498	.	1.296980	0.04813	N	0.435605	T	0.06325	0.0163	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	10	0.23891	T	0.37	-0.6466	9.2276	0.37416	0.5193:0.0:0.4807:0.0	.	303;303	B2RBJ7;Q96RS0	.;TGS1_HUMAN	G	303	ENSP00000260129:D303G	ENSP00000260129:D303G	D	+	2	0	TGS1	56861919	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.080000	0.11339	-0.263000	0.09378	0.533000	0.62120	GAT		0.333	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		G	56699365	A	G	56699365	3	3	73	1	0	0	0	0	1	0	0	0	15834	333	12	4	922	4	TGS1	8	56699365	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	31496331	56699365	89664657	42	4877											
SYBU	55638	broad.mit.edu	37	chr8	110588241	110588241	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctccacgatttcactttCcctagagtgccaagacaagc	12	9	7	13	1	1	2	1	0	0	2	3	3	3	2	3	0	3	1	3	0	4	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:110588241C>A	ENST00000422135.1	-	8	1401	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	SYBU_ENST00000408889.3_Splice_Site_p.E177*|SYBU_ENST00000419099.1_Splice_Site_p.E295*|SYBU_ENST00000533171.1_Splice_Site_p.E296*|SYBU_ENST00000529175.1_Splice_Site_p.E90*|SYBU_ENST00000533065.1_Splice_Site_p.E177*|SYBU_ENST00000276646.9_Splice_Site_p.E296*|SYBU_ENST00000399066.3_Splice_Site_p.E293*|SYBU_ENST00000532779.1_Splice_Site_p.E228*|SYBU_ENST00000446070.2_Splice_Site_p.E295*|SYBU_ENST00000528647.1_Splice_Site_p.E295*|SYBU_ENST00000424158.2_Splice_Site_p.E301*|SYBU_ENST00000529690.1_Splice_Site_p.E166*|SYBU_ENST00000528331.1_Splice_Site_p.E177*|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533895.1_Splice_Site_p.E295*|SYBU_ENST00000408908.2_Splice_Site_p.E296*|SYBU_ENST00000433638.1_Splice_Site_p.E296*|SYBU_ENST00000440310.1_Splice_Site_p.E296*	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	296	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATTTCACTTTCCCTAGAGTGC	0.463																																						uc010mcp.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.e8-1		Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.							41	40	40					8																	110588241		1931	4166	6097	SO:0001630	splice_region_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588241C>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.885-1G>T	8.37:g.110588241C>A						SYBU_uc003yni.4_Splice_Site_p.R292_splice|SYBU_uc003ynk.4_Splice_Site_p.R176_splice|SYBU_uc003ynj.4_Splice_Site_p.R295_splice|SYBU_uc010mco.3_Splice_Site_p.R294_splice|SYBU_uc003ynl.4_Splice_Site_p.R294_splice|SYBU_uc010mcq.3_Splice_Site_p.R295_splice|SYBU_uc003yno.4_Splice_Site_p.R176_splice|SYBU_uc010mcr.3_Splice_Site_p.R295_splice|SYBU_uc003ynm.4_Splice_Site_p.R294_splice|SYBU_uc003ynn.4_Splice_Site_p.R294_splice|SYBU_uc010mcs.3_Splice_Site_p.R176_splice|SYBU_uc010mct.3_Splice_Site_p.R295_splice|SYBU_uc010mcu.3_Splice_Site_p.R294_splice|SYBU_uc003ynp.4_Splice_Site_p.R227_splice|SYBU_uc010mcv.3_Splice_Site_p.R295_splice|SYBU_uc003ynh.4_Splice_Site_p.R89_splice|SYBU_uc011lhw.2_Splice_Site_p.R165_splice	p.R295_splice	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN			8	1247	-			295			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Nonsense_Mutation	SNP	ENST00000422135.1	37	c.885_splice	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	39	7.808101	0.98501	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000533394	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.0219	19.2586	0.93957	0.0:1.0:0.0:0.0	.	.	.	.	X	295;301;228;293;295;177;90;296;295;296;295;296;296;296;177;177;166;296;133	.	ENSP00000276646:E296X	E	-	1	0	SYBU	110657417	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	5.963000	0.70372	2.793000	0.96121	0.591000	0.81541	GAA		0.463	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	Nonsense_Mutation	A	110588241	C	A	110588241	5	1	73	1	0	0	0	0	0	0	1	0	15424	869	30	5	1109	5	SYBU	8	110588241	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	53888876	110588241	35775781	43	4878											
RFX3	5991	broad.mit.edu	37	chr9	3225104	3225104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtctgagtacttgtgaCaatgtgctcgctgtgaattg	9	14	12	6	1	1	3	0	3	1	0	2	4	1	3	0	0	2	3	0	0	4	4	rs137899630		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:3225104C>T	ENST00000382004.3	-	18	2499	c.2188G>A	c.(2188-2190)Gtc>Atc	p.V730I		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	730					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTACTTGTGACAATGTGCTCG	0.478													C|||	1	0.000199681	0	0	5008	,	,		19037	0		0.001	False		,,,				2504	0					uc003zhr.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2188-2190)Gtc>Atc		Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.		C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	132	119	123		2188	5.7	1	9	dbSNP_134	123	21,8579	15.3+/-51.7	0,21,4279	yes	missense	RFX3	NM_134428.1	29	0,23,6480	TT,TC,CC		0.2442,0.0454,0.1768	benign	730/750	3225104	23,12983	2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3225104C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2188G>A	9.37:g.3225104C>T	ENSP00000371434:p.Val730Ile					RFX3_uc010mhd.3_Missense_Mutation_p.V730I	p.V730I	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	17	2500	-			730					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.2188G>A	CCDS6449.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.03	1.816863	0.32145	4.54E-4	0.002442	ENSG00000080298	ENST00000382004	T	0.58797	0.31	5.7	5.7	0.88788	.	0.135852	0.50627	D	0.000115	T	0.51346	0.1669	L	0.36672	1.1	0.80722	D	1	B	0.25667	0.131	B	0.16722	0.016	T	0.44802	-0.9304	10	0.46703	T	0.11	-13.1442	19.8344	0.96650	0.0:1.0:0.0:0.0	.	730	P48380	RFX3_HUMAN	I	730	ENSP00000371434:V730I	ENSP00000371434:V730I	V	-	1	0	RFX3	3215104	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.155000	0.42301	2.686000	0.91538	0.643000	0.83706	GTC		0.478	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		T	3225104	C	T	3225104	3	4	73	1	0	0	0	0	1	0	0	0	13264	478	17	3	65	3	RFX3	9	3225104	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		3225104	137988327	44	4879											
FLJ46321	389763	broad.mit.edu	37	chr9	84609494	84609494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcatatcatatgaagAacaagaaagttcctgggaaa	18	7	8	8	0	1	3	1	1	0	2	2	4	2	4	2	1	2	2	2	1	7	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:84609494A>G	ENST00000344803.2	+	4	4156	c.4109A>G	c.(4108-4110)gAa>gGa	p.E1370G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1370					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATATGAAGAACAAGAAAGT	0.433																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(4108-4110)gAa>gGa		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							28	25	26					9																	84609494		1837	4082	5919	SO:0001583	missense	389763					integral to membrane		g.chr9:84609494A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4109A>G	9.37:g.84609494A>G	ENSP00000341988:p.Glu1370Gly						p.E1370G	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	4156	+			1370						Missense_Mutation	SNP	ENST00000344803.2	37	c.4109A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	4.295	0.053987	0.08291	.	.	ENSG00000214929	ENST00000344803	T	0.04917	3.53	3.23	-6.46	0.01908	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	9	0.21014	T	0.42	1.7861	0.4783	0.00543	0.3875:0.1323:0.1782:0.302	.	1370	Q6ZQQ2	F75D1_HUMAN	G	1370	ENSP00000341988:E1370G	ENSP00000341988:E1370G	E	+	2	0	FAM75D1	83799314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.380000	0.07427	-1.637000	0.01531	-1.074000	0.02243	GAA		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84609494	A	G	84609494	3	3	73	1	0	0	0	0	1	0	0	0	5932	246	9	4	4123	4	FLJ46321	9	84609494	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	81384390	84609494	56603937	45	4880											
CACNA1B	774	broad.mit.edu	37	chr9	140904511	140904511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggacaacctggccaaCgcccaagagctgaccaaggt	11	5	12	13	1	0	2	0	1	0	1	0	3	0	3	4	3	3	2	4	3	4	0	rs570622319		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:140904511C>T	ENST00000371372.1	+	17	2287	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CACNA1B_ENST00000371357.1_Silent_p.N715N|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.N714N|CACNA1B_ENST00000277550.3_Silent_p.N5N|CACNA1B_ENST00000371355.4_Silent_p.N715N|CACNA1B_ENST00000277551.2_Silent_p.N714N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	714					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGGCCAACGCCCAAGAGC	0.607																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2140-2142)aaC>aaT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						71	75	74					9																	140904511		2165	4268	6433	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140904511C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2142C>T	9.37:g.140904511C>T						CACNA1B_uc022bqn.1_Silent_p.N714N|CACNA1B_uc011mfd.2_Silent_p.N316N	p.N714N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	16	2287	+	all_cancers(76;0.166)		714					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.2142C>T	CCDS59522.1																																																																																				0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140904511	C	T	140904511	2	4	73	1	0	0	0	0	0	0	0	1	2539	535	19	1		1	CACNA1B	9	140904511	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	56295017	140904511	308920	46	4881											
MYO3A	53904	broad.mit.edu	37	chr10	26305807	26305807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacatccgtaggaacaccGttttggatggctcctgaggt	10	10	11	10	2	0	1	0	1	0	0	2	3	2	3	3	4	2	3	3	4	3	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P|MYO3A_ENST00000543632.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(565-567)ccG>ccA		Homo sapiens myosin IIIA (MYO3A), mRNA.							113	106	109					10																	26305807		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26305807G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.567G>A	10.37:g.26305807G>A						MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	p.P189P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			6	927	+			189			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.567G>A	CCDS7148.1																																																																																				0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26305807	G	A	26305807	2	1	73	1	0	0	0	0	0	0	0	1	10076	1132	40	1		1	MYO3A	10	26305807	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		26305807	109228940	47	4882											
PTEN	5728	broad.mit.edu	37	chr10	89653833	89653833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcagaaagacttgaagGcgtatacaggaacaatattg	15	9	10	7	1	0	3	0	1	0	2	1	4	1	4	1	2	3	2	1	2	7	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:89653833G>A	ENST00000371953.3	+	2	1488	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	44	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.G44D(2)|p.G44fs*8(1)|p.G44fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGAAGGCGTATACAGG	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Complex - frameshift(1)	p.0?(37)|p.?(8)|p.G44D(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44fs*8(2)|p.G44fs*11(2)|p.Y27_N212>Y(2)|p.E43*(1)|p.E43fs*11(1)	prostate(15)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|vulva(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM090865	PTEN	M		c.(130-132)gGc>gAc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							114	114	114					10																	89653833		2203	4295	6498	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653833G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.131G>A	10.37:g.89653833G>A	ENSP00000361021:p.Gly44Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G44D	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1163	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	44			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.131G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094643	0.94149	.	.	ENSG00000171862	ENST00000371953	D	0.98531	-4.98	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.99497	1.0952	9	.	.	.	-6.4843	17.4682	0.87639	0.0:0.0:1.0:0.0	.	44	P60484	PTEN_HUMAN	D	44	ENSP00000361021:G44D	.	G	+	2	0	PTEN	89643813	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.214000	0.77958	2.421000	0.82119	0.655000	0.94253	GGC		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89653833	G	A	89653833	3	1	73	1	0	0	0	0	1	0	0	0	12738	1203	42	3	137	3	PTEN	10	89653833	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	63348026	89653833	45880914	48	4883											
NLRP6	171389	broad.mit.edu	37	chr11	285212	285212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcactacaggagcttcagGctgtgaagagagcaaagccg	13	6	13	9	1	2	2	2	1	0	1	2	4	2	3	1	2	4	3	1	2	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:285212G>T	ENST00000312165.5	+	8	2587	c.2587G>T	c.(2587-2589)Gct>Tct	p.A863S	RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000525217.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.A862S|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	863					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTTCAGGCTGTGAAGAG	0.617																																						uc010qvs.2																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2587-2589)Gct>Tct		Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.							72	59	63					11																	285212		2202	4298	6500	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:285212G>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2587G>T	11.37:g.285212G>T	ENSP00000309767:p.Ala863Ser					NLRP6_uc010qvt.2_Missense_Mutation_p.A862S	p.A863S	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	2587	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	863					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2587G>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.646042	0.00111	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.73363	-0.74;-0.73	2.17	2.17	0.27698	.	.	.	.	.	T	0.52565	0.1742	N	0.24115	0.695	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.17098	0.003;0.017	T	0.42085	-0.9472	9	0.02654	T	1	.	6.8178	0.23841	0.0:0.2941:0.7059:0.0	.	862;863	E9PJZ8;P59044	.;NALP6_HUMAN	S	862;863	ENSP00000433617:A862S;ENSP00000309767:A863S	ENSP00000309767:A863S	A	+	1	0	NLRP6	275212	0.013000	0.17824	0.005000	0.12908	0.072000	0.16883	1.862000	0.39448	1.531000	0.49152	0.558000	0.71614	GCT		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		T	285212	G	T	285212	3	4	73	1	0	0	0	0	1	0	0	0	10481	1203	42	5	2617	5	NLRP6	11	285212	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		285212	134721304	49	4884											
OR51A2	401667	broad.mit.edu	37	chr11	4976634	4976634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaatccatgaatgaagaAttcctgggcaaagcaggcac	15	7	11	8	0	0	4	0	3	0	2	2	5	2	4	2	2	1	3	2	2	5	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:4976634A>T	ENST00000380371.1	-	1	309	c.310T>A	c.(310-312)Ttc>Atc	p.F104I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAATGAAGAATTCCTGGGCA	0.448																																						uc010qyt.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(310-312)Ttc>Atc		Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.							111	87	96					11																	4976634		1906	3427	5333	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976634A>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.310T>A	11.37:g.4976634A>T	ENSP00000369729:p.Phe104Ile						p.F104I	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	310	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	104						Missense_Mutation	SNP	ENST00000380371.1	37	c.310T>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	14.79	2.639105	0.47153	.	.	ENSG00000205496	ENST00000380371	T	0.05925	3.37	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31513	0.0799	M	0.93939	3.475	0.19300	N	0.999976	D	0.89917	1.0	D	0.78314	0.991	T	0.09530	-1.0670	9	0.87932	D	0	.	10.3385	0.43864	1.0:0.0:0.0:0.0	.	104	Q8NGJ7	O51A2_HUMAN	I	104	ENSP00000369729:F104I	ENSP00000369729:F104I	F	-	1	0	OR51A2	4933210	0.500000	0.26091	0.055000	0.19348	0.396000	0.30629	5.645000	0.67909	1.345000	0.45676	0.325000	0.21440	TTC		0.448	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		T	4976634	A	T	4976634	3	4	73	1	0	0	0	0	1	0	0	0	11086	101	4	5	633	5	OR51A2	11	4976634	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	4691422	4976634	130029882	50	4885											
OR52E2	119678	broad.mit.edu	37	chr11	5080295	5080295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctggcacaagatagaTgagcaagacccatgtgctca	13	8	11	9	0	1	5	1	2	0	3	1	5	1	5	1	1	3	4	1	1	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:5080295T>C	ENST00000321522.2	-	1	562	c.563A>G	c.(562-564)cAt>cGt	p.H188R		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAAGATAGATGAGCAAGACC	0.388																																						uc010qyw.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(562-564)cAt>cGt		Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.							92	83	86					11																	5080295		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080295T>C	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.563A>G	11.37:g.5080295T>C	ENSP00000322088:p.His188Arg						p.H188R	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	0	563	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	188						Missense_Mutation	SNP	ENST00000321522.2	37	c.563A>G	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.909637	0.00056	.	.	ENSG00000176787	ENST00000321522	T	0.00051	8.81	3.76	0.692	0.18050	GPCR, rhodopsin-like superfamily (1);	0.118232	0.38436	N	0.001686	T	0.00039	0.0001	N	0.00061	-2.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.07175	T	0.84	.	7.1981	0.25864	0.0:0.6067:0.0:0.3933	.	188	Q8NGJ4	O52E2_HUMAN	R	188	ENSP00000322088:H188R	ENSP00000322088:H188R	H	-	2	0	OR52E2	5036871	0.000000	0.05858	0.002000	0.10522	0.333000	0.28666	-1.002000	0.03686	0.211000	0.20683	-0.188000	0.12872	CAT		0.388	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		C	5080295	T	C	5080295	3	2	73	1	0	0	0	0	1	0	0	0	11115	1464	51	4	417	4	OR52E2	11	5080295	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	103661	5080295	129926221	51	4886											
PAX6	5080	broad.mit.edu	37	chr11	31824337	31824337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagtccggcagtggcCgcccgttgacaaagacacca	9	5	15	12	3	0	2	0	1	0	1	1	3	1	3	4	4	0	2	4	4	1	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:31824337C>A	ENST00000379132.3	-	4	336	c.56G>T	c.(55-57)cGg>cTg	p.R19L	PAX6_ENST00000241001.8_Missense_Mutation_p.R19L|PAX6_ENST00000379123.5_Missense_Mutation_p.R19L|PAX6_ENST00000379115.4_Missense_Mutation_p.R19L|PAX6_ENST00000379107.2_Missense_Mutation_p.R19L|PAX6_ENST00000379129.2_Missense_Mutation_p.R19L|PAX6_ENST00000419022.1_Missense_Mutation_p.R19L|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379111.2_Missense_Mutation_p.R19L			P26367	PAX6_HUMAN	paired box 6	19	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		R -> P (in AN). {ECO:0000269|PubMed:12634864}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CGGCAGTGGCCGCCCGTTGAC	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc009yjr.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM030485	PAX6	M		c.(55-57)cGg>cTg		Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.							28	30	29					11																	31824337		2202	4299	6501	SO:0001583	missense	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31824337C>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.56G>T	11.37:g.31824337C>A	ENSP00000368427:p.Arg19Leu					PAX6_uc001mtd.4_Missense_Mutation_p.R19L|PAX6_uc001mte.4_Missense_Mutation_p.R19L|PAX6_uc001mtg.4_Missense_Mutation_p.R19L|PAX6_uc001mtf.4_Missense_Mutation_p.R19L|PAX6_uc001mth.4_Missense_Mutation_p.R19L|PAX6_uc021qfl.1_Missense_Mutation_p.R19L|PAX6_uc021qfm.1_Missense_Mutation_p.R19L|PAX6_uc021qfn.1_Missense_Mutation_p.R19L	p.R19L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			4	525	-	Lung SC(675;0.225)		19		R -> P (in AN).	Paired.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.56G>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.469603	0.84533	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000455099;ENST00000524853;ENST00000423822;ENST00000438681	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33	4.48	3.57	0.40892	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.053822	0.64402	D	0.000001	D	0.99629	0.9864	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98119	1.0424	10	0.87932	D	0	.	12.2829	0.54774	0.0:0.9172:0.0:0.0828	.	19;19	F1T0F8;P26367	.;PAX6_HUMAN	L	19	ENSP00000404100:R19L;ENSP00000368427:R19L;ENSP00000368424:R19L;ENSP00000368401:R19L;ENSP00000241001:R19L;ENSP00000368410:R19L;ENSP00000368406:R19L;ENSP00000368418:R19L;ENSP00000368403:R19L;ENSP00000397384:R19L;ENSP00000431585:R19L;ENSP00000388132:R19L;ENSP00000404356:R19L	ENSP00000241001:R19L	R	-	2	0	PAX6	31780913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.457000	0.80775	1.105000	0.41606	0.450000	0.29827	CGG		0.592	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		A	31824337	C	A	31824337	3	1	73	1	0	0	0	0	1	0	0	0	11483	652	23	5	1294	5	PAX6	11	31824337	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	26744042	31824337	103182179	52	4887											
OR4D6	219983	broad.mit.edu	37	chr11	59224437	59224437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagagtcatccccatcatgGaccagatcaaccacactaat	15	7	6	13	0	3	2	3	0	0	2	4	4	4	3	4	1	1	0	4	1	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:59224437G>T	ENST00000300127.2	+	1	27	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCCCATCATGGACCAGATCAA	0.423																																						uc010rku.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(4-6)Gac>Tac		Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.							224	206	212					11																	59224437		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224437G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.4G>T	11.37:g.59224437G>T	ENSP00000300127:p.Asp2Tyr						p.D2Y	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			0	4	+			2					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.4G>T	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	3.860	-0.030127	0.07543	.	.	ENSG00000166884	ENST00000300127	T	0.03124	4.04	5.75	-1.91	0.07641	.	0.919547	0.09179	N	0.837773	T	0.04907	0.0132	L	0.39397	1.21	0.09310	N	0.999997	B	0.23128	0.08	B	0.32022	0.139	T	0.44742	-0.9308	10	0.66056	D	0.02	0.1327	10.4504	0.44518	0.4833:0.0:0.5167:0.0	.	2	Q8NGJ1	OR4D6_HUMAN	Y	2	ENSP00000300127:D2Y	ENSP00000300127:D2Y	D	+	1	0	OR4D6	58981013	0.050000	0.20438	0.010000	0.14722	0.025000	0.11179	0.210000	0.17455	-0.387000	0.07809	-0.982000	0.02568	GAC		0.423	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		T	59224437	G	T	59224437	3	4	73	1	0	0	0	0	1	0	0	0	11058	1174	41	5	6	5	OR4D6	11	59224437	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	27400100	59224437	75782079	53	4888											
MS4A8B	83661	broad.mit.edu	37	chr11	60470943	60470943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtctatttcattctaCggaggctttcccttctgggg	5	16	9	11	1	4	0	1	0	3	0	5	1	5	1	2	4	2	1	2	4	3	7	rs144254483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60470943C>T	ENST00000300226.2	+	3	515	c.312C>T	c.(310-312)taC>taT	p.Y104Y		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	104						integral component of membrane (GO:0016021)		p.Y104*(1)									TTTCATTCTACGGAGGCTTTC	0.567													C|||	1	0.000199681	0	0	5008	,	,		15865	0.001		0	False		,,,				2504	0					uc001npv.3																			1	Substitution - Nonsense(1)	p.Y104*(2)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(310-312)taC>taT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	145	137	140		312	-6.5	0.6	11	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	MS4A8B	NM_031457.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		104/251	60470943	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83661					integral to membrane	receptor activity	g.chr11:60470943C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.312C>T	11.37:g.60470943C>T						MS4A8B_uc009yne.1_Silent_p.Y104Y	p.Y104Y	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			2	515	+			104					Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.312C>T	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	1.697	-0.502636	0.04261	4.54E-4	0.0	ENSG00000166959	ENST00000525458	.	.	.	3.62	-6.53	0.01866	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.23309	N	0.997935	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-1.3113	2.3175	0.04202	0.1341:0.2077:0.1332:0.5251	.	.	.	.	M	86	.	.	T	+	2	0	MS4A8B	60227519	0.000000	0.05858	0.626000	0.29213	0.263000	0.26337	-3.553000	0.00433	-0.913000	0.03832	0.491000	0.48974	ACG		0.567	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			T	60470943	C	T	60470943	2	4	73	1	0	0	0	0	0	0	0	1	9867	547	19	1		1	MS4A8B	11	60470943	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	1246506	60470943	74535573	54	4889											
CD6	923	broad.mit.edu	37	chr11	60739382	60739382	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgctgacggcagccctCtcaggtaggcccccttccct	5	9	11	16	1	1	1	1	1	1	0	3	2	2	2	4	4	2	3	4	4	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60739382C>A	ENST00000313421.7	+	1	231	c.45C>A	c.(43-45)ctC>ctA	p.L15L	CD6_ENST00000344028.5_Silent_p.L15L|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000452451.2_Silent_p.L15L|CD6_ENST00000352009.5_Silent_p.L15L|CD6_ENST00000346437.4_Silent_p.L15L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	15					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CGGCAGCCCTCTCAGGTAGGC	0.602																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(43-45)ctC>ctA		Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.							59	52	54					11																	60739382		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60739382C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.45C>A	11.37:g.60739382C>A						CD6_uc009yni.3_Silent_p.L15L|CD6_uc009ynj.3_Silent_p.L15L|CD6_uc001nqp.3_Silent_p.L15L|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.L15L|CD6_uc001nqt.3_Silent_p.L15L	p.L15L	NM_006725	NP_006716	P30203	CD6_HUMAN			0	270	+			15					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.45C>A	CCDS7999.1																																																																																				0.602	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		A	60739382	C	A	60739382	2	1	73	1	0	0	0	0	0	0	0	1	3028	900	32	5		5	CD6	11	60739382	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	268439	60739382	74267134	55	4890											
DDB1	1642	broad.mit.edu	37	chr11	61079499	61079499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaactgtgcgaatgtgcagCttctggatctcatcgatggt	8	12	13	8	2	2	0	1	0	2	0	4	4	2	2	0	3	4	2	0	3	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:61079499C>G	ENST00000301764.7	-	17	2524	c.2127G>C	c.(2125-2127)aaG>aaC	p.K709N	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	709	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATGTGCAGCTTCTGGATCT	0.547								Nucleotide excision repair (NER)																														uc001nrc.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2125-2127)aaG>aaC	Nucleotide excision repair (NER)	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.							188	176	180					11																	61079499		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079499C>G	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2127G>C	11.37:g.61079499C>G	ENSP00000301764:p.Lys709Asn					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.K709N	p.K709N	NM_001923	NP_001914	Q16531	DDB1_HUMAN			16	2353	-			709			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2127G>C	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865034	0.71949	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.30981	1.51;1.51	5.9	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.54470	-0.8289	10	0.33141	T	0.24	-31.5146	10.4564	0.44553	0.0:0.7369:0.0:0.2631	.	709	Q16531	DDB1_HUMAN	N	709;176	ENSP00000301764:K709N;ENSP00000444650:K176N	ENSP00000301764:K709N	K	-	3	2	DDB1	60836075	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.374000	0.20501	0.385000	0.24970	0.591000	0.81541	AAG		0.547	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		G	61079499	C	G	61079499	3	3	73	1	0	0	0	0	1	0	0	0	4323	796	28	5	1339	5	DDB1	11	61079499	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	340117	61079499	73927017	56	4891											
NPAS4	266743	broad.mit.edu	37	chr11	66190325	66190325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaccccgcccaggtcctgGccctggccctggccctgcct	3	6	12	20	1	0	1	0	0	0	1	1	2	1	1	8	4	1	0	8	4	0	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:66190325G>A	ENST00000311034.2	+	4	787	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	204	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGGTCCTGGCCCTGGCCCT	0.632																																						uc001ohx.1																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(610-612)gGc>gAc		Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.							52	55	54					11																	66190325		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190325G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.611G>A	11.37:g.66190325G>A	ENSP00000311196:p.Gly204Asp					NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	p.G204D	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			3	787	+			204			PAS 2.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.611G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355499	0.41700	.	.	ENSG00000174576	ENST00000311034	T	0.44482	0.92	5.49	4.54	0.55810	.	0.104187	0.43416	D	0.000575	T	0.22003	0.0530	N	0.08118	0	0.47308	D	0.999383	B	0.33073	0.396	B	0.29440	0.102	T	0.08743	-1.0707	10	0.34782	T	0.22	-7.7403	12.3851	0.55328	0.0:0.1683:0.8317:0.0	.	204	Q8IUM7	NPAS4_HUMAN	D	204	ENSP00000311196:G204D	ENSP00000311196:G204D	G	+	2	0	NPAS4	65946901	0.994000	0.37717	1.000000	0.80357	0.874000	0.50279	2.378000	0.44309	2.579000	0.87056	0.655000	0.94253	GGC		0.632	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		A	66190325	G	A	66190325	3	1	73	1	0	0	0	0	1	0	0	0	10565	1203	42	3	625	3	NPAS4	11	66190325	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	5110826	66190325	68816191	57	4892											
ODZ4	26011	broad.mit.edu	37	chr11	78380034	78380034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatggggttgttgtttttGaacatatagagattaaaagg	12	15	12	2	0	0	3	0	2	0	1	0	4	0	3	0	3	1	3	0	3	5	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:78380034G>C	ENST00000278550.7	-	32	7818	c.7356C>G	c.(7354-7356)ttC>ttG	p.F2452L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2452					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTTGTTTTTGAACATATAGA	0.507																																						uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7354-7356)ttC>ttG		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							154	150	151					11																	78380034		2001	4163	6164	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380034G>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7356C>G	11.37:g.78380034G>C	ENSP00000278550:p.Phe2452Leu					ODZ4_uc001ozk.4_Missense_Mutation_p.F677L	p.F2452L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	7819	-			2452					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7356C>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772283	0.49680	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91577	-2.87;0.35	5.14	-1.5	0.08691	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.83603	2.65	0.47737	D	0.999508	D	0.58268	0.982	D	0.67548	0.952	D	0.92444	0.5964	9	.	.	.	.	12.4904	0.55897	0.3274:0.0:0.6726:0.0	.	2452	Q6N022	TEN4_HUMAN	L	2452;916	ENSP00000278550:F2452L;ENSP00000431711:F916L	.	F	-	3	2	ODZ4	78057682	0.998000	0.40836	0.997000	0.53966	0.761000	0.43186	0.567000	0.23608	-0.109000	0.12044	-0.290000	0.09829	TTC		0.507	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			C	78380034	G	C	78380034	3	2	73	1	0	0	0	0	1	0	0	0	10837	1281	45	5	965	5	ODZ4	11	78380034	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	12189709	78380034	56626482	58	4893											
FOLH1B	219595	broad.mit.edu	37	chr11	89405127	89405127	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctcagagtggagcagCtgttgttcatgaaactgtga	10	11	12	8	0	2	4	2	3	0	1	2	5	2	5	1	1	3	4	1	1	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:89405127C>G	ENST00000532352.1	+	0	1067							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGTGGAGCAGCTGTTGTTCAT	0.418																																						uc001pda.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						c.(253-255)gCt>gGt		Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.							202	181	188					11																	89405127		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405127C>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405127C>G							p.A85G	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			4	780	+			85						Missense_Mutation	SNP	ENST00000532352.1	37	c.254C>G																																																																																					0.418	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		G	89405127	C	G	89405127	1	3	73	0	1	0	0	0	0	0	0	0	5980	797	28	5		5	FOLH1B	11	89405127	RNA	SNP	C	TCGA-06-1804-01A-01D-1696-08	11025093	89405127	45601389	59	4894											
ERC1	23085	broad.mit.edu	37	chr12	1291107	1291107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagcggacaattgaacGcttaaaggagcagagggaca	15	5	14	7	2	1	2	1	1	0	1	1	6	1	6	0	4	3	2	0	4	4	2	rs138512011	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:1291107G>A	ENST00000397203.2	+	10	2298	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	ERC1_ENST00000355446.5_Missense_Mutation_p.R631H|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.R631H|ERC1_ENST00000360905.4_Missense_Mutation_p.R631H|ERC1_ENST00000543086.3_Missense_Mutation_p.R603H|ERC1_ENST00000589028.1_Missense_Mutation_p.R631H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	631					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAATTGAACGCTTAAAGGAG	0.378																																						uc001qjb.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1891-1893)cGc>cAc		Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	63	63	63		1808,1892	4.2	1	12	dbSNP_134	63	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ERC1	NM_178039.2,NM_178040.2	29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging,probably-damaging	603/1089,631/1117	1291107	5,13001	2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1291107G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1892G>A	12.37:g.1291107G>A	ENSP00000380386:p.Arg631His					ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.3_Missense_Mutation_p.R271H	p.R631H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		9	2133	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		631					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1892G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833820	0.71258	0.0	5.81E-4	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.1	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.41961	1.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.979;0.966;0.967;0.967;0.98	T	0.59899	-0.7367	10	0.51188	T	0.08	-3.1742	13.4965	0.61428	0.0756:0.0:0.9244:0.0	.	379;271;603;603;631	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	H	603;631;603;603;331;603;603;331;631;631;631;603;379;271	ENSP00000340054:R603H;ENSP00000380386:R631H;ENSP00000438546:R603H;ENSP00000442976:R331H;ENSP00000442739:R631H;ENSP00000347621:R631H;ENSP00000354158:R631H;ENSP00000410064:R603H	ENSP00000299183:R331H	R	+	2	0	ERC1	1161368	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.869000	0.99810	1.160000	0.42584	-0.136000	0.14681	CGC		0.378	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		A	1291107	G	A	1291107	3	1	73	1	0	0	0	0	1	0	0	0	5210	1087	38	1	1926	1	ERC1	12	1291107	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		1291107	132560788	60	4895											
FOXJ2	55810	broad.mit.edu	37	chr12	8192492	8192492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccccagctgaccctccgaGctaccattgagaagcttgga	9	8	9	15	1	0	2	0	2	0	1	2	5	2	3	5	1	4	3	5	1	2	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:8192492G>A	ENST00000162391.3	+	2	1209	c.64G>A	c.(64-66)Gct>Act	p.A22T	FOXJ2_ENST00000428177.2_Missense_Mutation_p.A22T	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	22					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GACCCTCCGAGCTACCATTGA	0.582																																						uc001qtu.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(64-66)Gct>Act		Homo sapiens forkhead box J2 (FOXJ2), mRNA.							75	78	77					12																	8192492		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8192492G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.64G>A	12.37:g.8192492G>A	ENSP00000162391:p.Ala22Thr					FOXJ2_uc001qtt.1_Missense_Mutation_p.A22T	p.A22T	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	1	1149	+			22					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.64G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	g	32	5.136057	0.94517	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95171	-3.43;-3.63	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000008	D	0.95092	0.8410	L	0.29908	0.895	0.53688	D	0.999976	D;D	0.71674	0.993;0.998	D;D	0.81914	0.984;0.995	D	0.95778	0.8814	10	0.66056	D	0.02	.	15.9746	0.80054	0.0:0.0:1.0:0.0	.	22;22	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	T	22	ENSP00000162391:A22T;ENSP00000403411:A22T	ENSP00000162391:A22T	A	+	1	0	FOXJ2	8083759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.705000	0.84606	2.363000	0.80096	0.555000	0.69702	GCT		0.582	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		A	8192492	G	A	8192492	3	1	73	1	0	0	0	0	1	0	0	0	6012	971	34	3	66	3	FOXJ2	12	8192492	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	6901385	8192492	125659403	61	4896											
C12orf35	55196	broad.mit.edu	37	chr12	32138039	32138039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaccaagggaacgtattaGatatggaagtaaagaaaaag	20	7	11	3	1	0	3	0	0	0	3	0	5	0	5	1	2	1	2	1	2	11	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:32138039G>C	ENST00000312561.4	+	4	4564	c.4150G>C	c.(4150-4152)Gat>Cat	p.D1384H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1384																	GAACGTATTAGATATGGAAGT	0.343																																						uc001rks.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59						c.(4150-4152)Gat>Cat		Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.							65	67	67					12																	32138039		2200	4298	6498	SO:0001583	missense	55196							g.chr12:32138039G>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4150G>C	12.37:g.32138039G>C	ENSP00000310338:p.Asp1384His						p.D1384H	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		3	4564	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1384					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4150G>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601486	0.46423	.	.	ENSG00000174718	ENST00000312561	T	0.14022	2.54	4.86	3.95	0.45737	.	0.724252	0.12801	N	0.437981	T	0.32556	0.0833	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.03524	-1.1028	9	.	.	.	.	12.0411	0.53454	0.0872:0.0:0.9128:0.0	.	1384	Q9HCM1	CL035_HUMAN	H	1384	ENSP00000310338:D1384H	.	D	+	1	0	C12orf35	32029306	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	0.428000	0.21395	2.386000	0.81285	0.563000	0.77884	GAT		0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32138039	G	C	32138039	3	2	73	1	0	0	0	0	1	0	0	0	1682	942	33	5	4152	5	C12orf35	12	32138039	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	23945547	32138039	101713856	62	4897											
LARP4	113251	broad.mit.edu	37	chr12	50831593	50831593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttgtattgtaattcttaGagagattcctgaaacaacac	13	13	8	7	1	1	3	0	1	1	2	2	4	2	3	1	0	2	3	1	0	5	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:50831593G>A	ENST00000398473.2	+	6	723	c.611G>A	c.(610-612)aGa>aAa	p.R204K	LARP4_ENST00000293618.8_Missense_Mutation_p.R204K|LARP4_ENST00000518561.1_Missense_Mutation_p.R134K|LARP4_ENST00000518444.1_Missense_Mutation_p.R203K|LARP4_ENST00000347328.5_Missense_Mutation_p.R204K|LARP4_ENST00000429001.3_Missense_Mutation_p.R210K|LARP4_ENST00000522085.1_Missense_Mutation_p.R204K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	204	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTAATTCTTAGAGAGATTCCT	0.338																																						uc001rwp.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(610-612)aGa>aAa		Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.							79	71	74					12																	50831593		1816	4074	5890	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50831593G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.611G>A	12.37:g.50831593G>A	ENSP00000381490:p.Arg204Lys					LARP4_uc001rwq.2_Missense_Mutation_p.R204K|LARP4_uc001rwt.2_Missense_Mutation_p.R204K|LARP4_uc001rws.2_Missense_Mutation_p.R203K|LARP4_uc001rwr.2_Missense_Mutation_p.R204K|LARP4_uc021qxv.1_Missense_Mutation_p.R134K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.3_Missense_Mutation_p.R204K|LARP4_uc001rwn.3_Missense_Mutation_p.R134K	p.R204K	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			5	813	+			204			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.611G>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	36	5.773337	0.96922	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.86740	2.835	0.80722	D	1	D;D;D;P;P;D	0.67145	0.983;0.994;0.996;0.851;0.897;0.985	D;D;D;P;P;D	0.76071	0.95;0.919;0.987;0.493;0.638;0.919	T	0.71494	-0.4576	10	0.51188	T	0.08	.	18.6272	0.91344	0.0:0.0:1.0:0.0	.	105;203;204;204;204;210	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	K	204;210;204;134;204;204;203;134;105;204	ENSP00000293618:R204K;ENSP00000415464:R210K;ENSP00000381490:R204K;ENSP00000429781:R204K;ENSP00000429077:R203K;ENSP00000430851:R134K;ENSP00000340901:R204K	ENSP00000293618:R204K	R	+	2	0	LARP4	49117860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.650000	0.98490	2.399000	0.81585	0.561000	0.74099	AGA		0.338	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		A	50831593	G	A	50831593	3	1	73	1	0	0	0	0	1	0	0	0	8630	942	33	3	633	3	LARP4	12	50831593	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	18693554	50831593	83020302	63	4898											
C12orf63	144535	broad.mit.edu	37	chr12	97052014	97052014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatacagaacaagtgacaCcacttctggtgtatgcacag	13	9	10	9	0	1	2	0	1	1	1	1	2	1	2	1	2	3	3	1	2	5	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:97052014C>A	ENST00000524981.4	+	38	5373	c.5350C>A	c.(5350-5352)Cca>Aca	p.P1784T				Q96N23	CL055_HUMAN		0																	ACAAGTGACACCACTTCTGGT	0.388																																						uc021rcc.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(625-627)Cca>Aca		RecName: Full=Putative uncharacterized protein C12orf63;							107	107	107					12																	97052014		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97052014C>A																												ENST00000524981.4:c.5350C>A	12.37:g.97052014C>A	ENSP00000431759:p.Pro1784Thr						p.P209T			Q6ZTY8	CL063_HUMAN			4	703	+			209						Missense_Mutation	SNP	ENST00000524981.4	37	c.625C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.130385	0.77549	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000020	T	0.79522	0.4460	M	0.70275	2.135	0.43835	D	0.996413	D	0.89917	1.0	D	0.97110	1.0	T	0.81531	-0.0890	9	0.87932	D	0	-15.3063	19.0711	0.93136	0.0:1.0:0.0:0.0	.	209	Q6ZTY8	CL063_HUMAN	T	1784;209	.	ENSP00000345466:P209T	P	+	1	0	C12orf63	95576145	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	5.269000	0.65542	2.581000	0.87130	0.462000	0.41574	CCA		0.388	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			A	97052014	C	A	97052014	3	1	73	1	0	0	0	0	1	0	0	0	1706	507	18	5	639	5	C12orf63	12	97052014	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	46220421	97052014	36799881	64	4899											
CHD8	57680	broad.mit.edu	37	chr14	21876716	21876716	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggatgcagttctgccTgcagattcaccatgggaaaa	12	8	11	10	0	2	1	1	0	1	1	2	3	2	3	3	2	4	3	3	2	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:21876716T>C	ENST00000557364.1	-	13	2750		c.e13-2		CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000399982.2_Splice_Site			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTTCTGCCTGCAGATTCAC	0.353																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.e12-1		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							45	42	43					14																	21876716		1877	4099	5976	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876716T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2487-2A>G	14.37:g.21876716T>C						CHD8_uc001was.2_Splice_Site_p.R550_splice|CHD8_uc001wav.1_Splice_Site	p.R829_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	12	2552	-	all_cancers(95;0.00121)		829			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP	ENST00000557364.1	37	c.2487_splice	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644207	0.67244	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000555935	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7202	0.69300	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20946556	1.000000	0.71417	0.986000	0.45419	0.852000	0.48524	7.868000	0.87116	2.299000	0.77371	0.528000	0.53228	.		0.353	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Intron	C	21876716	T	C	21876716	5	2	73	1	0	0	0	0	0	0	1	0	3331	1594	55	4	5364	4	CHD8	14	21876716	Splice_Site	SNP	T	TCGA-06-1804-01A-01D-1696-08		21876716	85472824	65	4900											
LRRC16B	90668	broad.mit.edu	37	chr14	24538046	24538046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccagtggctgtgcccAggggccgccagcctccccag	6	4	13	18	1	0	0	0	0	0	0	1	0	1	0	8	3	3	1	8	3	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:24538046A>G	ENST00000342740.5	+	38	4007	c.3853A>G	c.(3853-3855)Agg>Ggg	p.R1285G	CPNE6_ENST00000537691.1_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.R338G|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1285						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCTGTGCCCAGGGGCCGCCA	0.637																																						uc001wlj.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3853-3855)Agg>Ggg		Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.							18	20	19					14																	24538046		2203	4293	6496	SO:0001583	missense	90668							g.chr14:24538046A>G	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3853A>G	14.37:g.24538046A>G	ENSP00000340467:p.Arg1285Gly					LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	p.R1285G	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	37	4010	+			1285					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3853A>G	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.737901	0.49045	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.60040	0.22;0.22	4.2	1.72	0.24424	.	0.000000	0.42682	D	0.000665	T	0.56202	0.1969	N	0.19112	0.55	0.26690	N	0.971378	D;D	0.57899	0.981;0.981	D;D	0.69824	0.943;0.966	T	0.46707	-0.9172	10	0.62326	D	0.03	-10.25	8.0616	0.30635	0.548:0.452:0.0:0.0	.	338;1285	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	G	1285;338	ENSP00000340467:R1285G;ENSP00000334701:R338G	ENSP00000334701:R338G	R	+	1	2	LRRC16B	23607886	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.798000	0.38814	0.650000	0.30769	0.459000	0.35465	AGG		0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		G	24538046	A	G	24538046	3	3	73	1	0	0	0	0	1	0	0	0	8972	179	7	4	4003	4	LRRC16B	14	24538046	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	2661330	24538046	82811494	66	4901											
KIAA0284	283638	broad.mit.edu	37	chr14	105353636	105353636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacttggcccgacggacatGggccgtggagagccggtacg	7	5	16	13	5	0	1	0	0	0	1	0	4	0	2	4	5	2	1	4	5	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:105353636G>A	ENST00000414716.3	+	12	3288	c.3060G>A	c.(3058-3060)atG>atA	p.M1020I	CEP170B_ENST00000418279.1_Missense_Mutation_p.M950I|CEP170B_ENST00000453495.1_Missense_Mutation_p.M1021I|CEP170B_ENST00000556508.1_Missense_Mutation_p.M950I	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1020						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGACGGACATGGGCCGTGGAG	0.701																																						uc001yps.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14						c.(2848-2850)atG>atA		Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.							10	14	13					14																	105353636		2026	4162	6188	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105353636G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3060G>A	14.37:g.105353636G>A	ENSP00000404151:p.Met1020Ile					KIAA0284_uc010axb.3_Missense_Mutation_p.M950I|KIAA0284_uc001ypt.3_5'Flank	p.M950I	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	10	3156	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1020					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2850G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	0.301	-0.973692	0.02215	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.39787	1.06;1.07;1.06;1.07	3.42	-6.33	0.01988	.	3.286300	0.01239	N	0.008569	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.0	T	0.20840	-1.0263	10	0.07990	T	0.79	-0.5147	0.8866	0.01246	0.3493:0.2824:0.1781:0.1901	.	1020;1020;950	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	I	950;1020;1021;950	ENSP00000451249:M950I;ENSP00000404151:M1020I;ENSP00000407238:M1021I;ENSP00000415006:M950I	ENSP00000404151:M1020I	M	+	3	0	KIAA0284	104424681	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.543000	0.00934	-1.758000	0.01315	-0.658000	0.03865	ATG		0.701	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		A	105353636	G	A	105353636	3	1	73	1	0	0	0	0	1	0	0	0	8166	1348	47	3	3102	3	KIAA0284	14	105353636	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	80815590	105353636	1995904	67	4902											
UNKL	64718	broad.mit.edu	37	chr16	1417320	1417320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgggcacgctccttggcctCctgcgcctctcgctgccagg	3	8	12	18	4	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	0	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:1417320C>T	ENST00000389221.4	-	14	1809	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	UNKL_ENST00000391893.2_Missense_Mutation_p.E103K|UNKL_ENST00000508903.2_Missense_Mutation_p.E607K|UNKL_ENST00000248104.7_Missense_Mutation_p.E103K|UNKL_ENST00000402641.2_Missense_Mutation_p.E106K|UNKL_ENST00000397464.1_Missense_Mutation_p.E106K|UNKL_ENST00000403703.1_Missense_Mutation_p.E106K	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	604					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCCTTGGCCTCCTGCGCCTCT	0.667																																						uc010brn.2																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(1810-1812)Gag>Aag		Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.							13	11	12					16																	1417320		2156	4220	6376	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1417320C>T	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1810G>A	16.37:g.1417320C>T	ENSP00000373873:p.Glu604Lys					UNKL_uc002cln.3_Missense_Mutation_p.E106K|UNKL_uc002clp.3_Missense_Mutation_p.E106K|UNKL_uc002clo.3_Missense_Mutation_p.E103K	p.E604K	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN			13	1823	-		Hepatocellular(780;0.0893)	604					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.1810G>A	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.204757	0.79127	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903	T;T;T;T;T;T	0.78126	-1.15;-0.23;-1.15;-1.15;-0.3;-1.15	5.02	5.02	0.67125	.	.	.	.	.	D	0.88217	0.6377	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	P;D;D	0.91635	0.815;0.999;0.98	D	0.89117	0.3500	9	0.54805	T	0.06	.	16.0353	0.80625	0.0:1.0:0.0:0.0	.	604;103;607	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	K	103;604;106;103;106;106;607	ENSP00000248104:E103K;ENSP00000373873:E604K;ENSP00000385895:E106K;ENSP00000375763:E103K;ENSP00000380606:E106K;ENSP00000384850:E106K	ENSP00000248104:E103K	E	-	1	0	UNKL	1357321	1.000000	0.71417	0.996000	0.52242	0.224000	0.24922	7.464000	0.80887	2.386000	0.81285	0.437000	0.28790	GAG		0.667	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		T	1417320	C	T	1417320	3	4	73	1	0	0	0	0	1	0	0	0	16998	864	30	3	390	3	UNKL	16	1417320	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		1417320	88937433	68	4903											
ABCA3	21	broad.mit.edu	37	chr16	2369841	2369841	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagccttcccggatgtacCctgggtgcgggagcagagga	8	6	17	10	2	0	1	0	0	0	1	1	5	1	5	3	5	4	2	3	5	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:2369841C>T	ENST00000301732.5	-	8	1314	c.614G>A	c.(613-615)gGg>gAg	p.G205E	ABCA3_ENST00000382381.3_Splice_Site_p.G205E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	205					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCGGATGTACCCTGGGTGCGG	0.657																																						uc002cpy.1																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.e8-1		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.							66	58	61					16																	2369841		2198	4300	6498	SO:0001630	splice_region_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369841C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.614-1G>A	16.37:g.2369841C>T						ABCA3_uc010bsk.1_Splice_Site_p.G205_splice|ABCA3_uc010bsl.1_Splice_Site_p.G205_splice	p.G205_splice	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			8	1326	-		Ovarian(90;0.17)	205					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.614_splice	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698911	0.68501	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.98684	-5.07	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.87578	0.99;0.985;0.998	D	0.99482	1.0948	10	0.87932	D	0	.	17.1158	0.86688	0.0:1.0:0.0:0.0	.	205;267;205	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	E	205;267	ENSP00000301732:G205E	ENSP00000301732:G205E	G	-	2	0	ABCA3	2309842	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	7.365000	0.79537	2.614000	0.88457	0.655000	0.94253	GGG		0.657	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Missense_Mutation	T	2369841	C	T	2369841	5	4	73	1	0	0	0	0	0	0	1	0	33	637	22	3	4604	3	ABCA3	16	2369841	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	952521	2369841	87984912	69	4904											
GRIN2A	2903	broad.mit.edu	37	chr16	10274212	10274212	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgctcggcgccggaccGcgccagaccagaagggccgg	6	1	17	17	8	0	2	0	0	0	2	1	3	0	3	6	4	0	1	6	4	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:10274212G>A	ENST00000396573.2	-	3	366	c.57C>T	c.(55-57)cgC>cgT	p.R19R	GRIN2A_ENST00000330684.3_Silent_p.R19R|GRIN2A_ENST00000404927.2_Silent_p.R19R|GRIN2A_ENST00000396575.2_Silent_p.R19R|GRIN2A_ENST00000562109.1_Silent_p.R19R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	19					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGCCGGACCGCGCCAGACCA	0.657																																						uc010uym.2																			0		p.R19C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(55-57)cgC>cgT		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						15	18	17					16																	10274212		2183	4278	6461	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274212G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.57C>T	16.37:g.10274212G>A						GRIN2A_uc002czo.4_Silent_p.R19R|GRIN2A_uc002czr.4_Silent_p.R19R|GRIN2A_uc010buk.3_Silent_p.R19R	p.R19R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			2	367	-			19					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.57C>T	CCDS10539.1																																																																																				0.657	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	10274212	G	A	10274212	2	1	73	1	0	0	0	0	0	0	0	1	6779	1074	38	1		1	GRIN2A	16	10274212	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	7904371	10274212	80080541	70	4905											
GGA2	23062	broad.mit.edu	37	chr16	23505700	23505700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcgcatgtgtggggCtacagggaaacaaaaagacc	13	4	15	9	1	0	1	0	0	0	1	0	2	0	2	2	4	2	2	2	4	4	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:23505700C>T	ENST00000309859.4	-	3	259		c.e3-1		GGA2_ENST00000567468.1_Splice_Site	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATGTGTGGGGCTACAGGGAAA	0.522																																						uc002dlq.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.e3-1		Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.							91	85	87					16																	23505700		2197	4300	6497	SO:0001630	splice_region_variant	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23505700C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.177-1G>A	16.37:g.23505700C>T						GGA2_uc010bxo.2_Splice_Site	p.G59_splice	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	3	260	-			59			VHS.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Splice_Site	SNP	ENST00000309859.4	37	c.177_splice	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476562	0.84640	.	.	ENSG00000103365	ENST00000309859	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5187	0.84308	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGA2	23413201	1.000000	0.71417	0.845000	0.33349	0.735000	0.41995	3.242000	0.51384	2.494000	0.84150	0.551000	0.68910	.		0.522	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		Intron	T	23505700	C	T	23505700	5	4	73	1	0	0	0	0	0	0	1	0	6353	811	28	3	1725	3	GGA2	16	23505700	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	13231488	23505700	66849053	71	4906											
CETP	1071	broad.mit.edu	37	chr16	57017290	57017290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaggcgtgagcctcttCgacatcatcaaccctgagat	12	8	9	12	2	3	2	2	2	1	1	4	4	3	2	2	1	3	1	2	1	2	1	rs544041690		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57017290C>T	ENST00000566128.1	+	15	1446	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	CETP_ENST00000379780.2_Silent_p.F398F|CETP_ENST00000200676.3_Silent_p.F458F					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGAGCCTCTTCGACATCATCA	0.592													c|||	1	0.000199681	0	0	5008	,	,		19457	0		0	False		,,,				2504	0.001					uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1372-1374)ttC>ttT		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							106	97	100					16																	57017290		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57017290C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1179C>T	16.37:g.57017290C>T						CETP_uc002ekj.2_Silent_p.F398F	p.F458F	NM_000078	NP_000069	P11597	CETP_HUMAN			14	1431	+			458						Silent	SNP	ENST00000566128.1	37	c.1374C>T																																																																																					0.592	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		T	57017290	C	T	57017290	2	4	73	1	0	0	0	0	0	0	0	1	3277	883	31	2		2	CETP	16	57017290	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	33511590	57017290	33337463	72	4907											
GPR114	221188	broad.mit.edu	37	chr16	57609404	57609404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccgctcagaagcagaggCcaaggcacagatagaggcct	12	4	14	11	1	1	4	1	0	0	4	1	4	1	4	3	3	2	3	3	3	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57609404C>T	ENST00000340339.4	+	12	2064	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.A514V	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	514					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAGCAGAGGCCAAGGCACAG	0.612																																						uc002ely.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(1540-1542)gCc>gTc		Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.							71	63	66					16																	57609404		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57609404C>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1541C>T	16.37:g.57609404C>T	ENSP00000342981:p.Ala514Val					GPR114_uc002elx.4_Missense_Mutation_p.A514V|GPR114_uc010vhr.2_3'UTR	p.A514V	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			11	2064	+			514					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.1541C>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408178	0.42715	.	.	ENSG00000159618	ENST00000340339	T	0.29655	1.56	4.41	-0.198	0.13224	.	.	.	.	.	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	B	0.17667	0.023	B	0.21151	0.033	T	0.31724	-0.9933	9	0.19590	T	0.45	.	4.6761	0.12712	0.0:0.5588:0.1589:0.2824	.	514	Q8IZF4	GP114_HUMAN	V	514	ENSP00000342981:A514V	ENSP00000342981:A514V	A	+	2	0	GPR114	56166905	0.000000	0.05858	0.018000	0.16275	0.238000	0.25445	-0.789000	0.04609	0.095000	0.17434	0.491000	0.48974	GCC		0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		T	57609404	C	T	57609404	3	4	73	1	0	0	0	0	1	0	0	0	6631	739	26	3	1583	3	GPR114	16	57609404	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	592114	57609404	32745349	73	4908											
SPDYE4	388333	broad.mit.edu	37	chr17	8658884	8658884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgccacgagaagaggcCggcacggctaaaatacgcta	13	6	12	10	4	0	2	0	0	0	2	0	3	0	2	2	3	2	4	2	3	6	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8658884C>T	ENST00000328794.6	-	4	615	c.439G>A	c.(439-441)Ggc>Agc	p.G147S		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	147										breast(1)|endometrium(2)|kidney(1)	4						GAGAAGAGGCCGGCACGGCTA	0.493																																						uc010cnz.1																			0				breast(1)|endometrium(2)|kidney(1)	4						c.(439-441)Ggc>Agc		Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.							94	79	84					17																	8658884		692	1591	2283	SO:0001583	missense	388333							g.chr17:8658884C>T	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.439G>A	17.37:g.8658884C>T	ENSP00000329522:p.Gly147Ser						p.G147S	NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN			3	616	-			147					B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	c.439G>A	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465709	0.26335	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.86	2.86	0.33363	.	0.000000	0.64402	D	0.000009	T	0.44829	0.1312	L	0.46885	1.475	0.37831	D	0.928728	P	0.45986	0.87	B	0.43478	0.421	T	0.49062	-0.8978	9	0.37606	T	0.19	.	9.2678	0.37652	0.0:1.0:0.0:0.0	.	147	A6NLX3	SPDE4_HUMAN	S	147	.	ENSP00000329522:G147S	G	-	1	0	SPDYE4	8599609	0.007000	0.16637	0.829000	0.32907	0.008000	0.06430	0.860000	0.27871	1.601000	0.50113	0.411000	0.27672	GGC		0.493	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		T	8658884	C	T	8658884	3	4	73	1	0	0	0	0	1	0	0	0	15030	652	23	2	286	2	SPDYE4	17	8658884	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		8658884	72536326	74	4909											
PIK3R5	23533	broad.mit.edu	37	chr17	8784088	8784088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctctggcttgtagcaCggtgagacctcacatctgtg	6	13	10	12	1	4	1	1	1	3	1	5	2	4	1	1	2	1	3	1	2	1	3	rs141893152		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8784088C>T	ENST00000447110.1	-	19	2635	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	PIK3R5_ENST00000581552.1_Silent_p.P837P|PIK3R5_ENST00000584803.1_Silent_p.P836P	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	837					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCTTGTAGCACGGTGAGACCT	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		17327	0		0	False		,,,				2504	0				NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			0		p.P837L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2509-2511)ccG>ccA		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.		C	,	4,4402	8.1+/-20.4	0,4,2199	94	79	84		2511,2511	-6.2	1	17	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	837/881,837/881	8784088	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784088C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2511G>A	17.37:g.8784088C>T						PIK3R5_uc010vuz.2_Silent_p.P837P|PIK3R5_uc021tqc.1_Silent_p.P451P|PIK3R5_uc010cob.2_Silent_p.P451P|PIK3R5_uc010coa.2_Silent_p.P451P|PIK3R5_uc002glu.4_Silent_p.P451P	p.P837P	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN			18	2578	-			837					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2511G>A	CCDS11147.1																																																																																				0.647	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		T	8784088	C	T	8784088	2	4	73	1	0	0	0	0	0	0	0	1	11922	523	19	1		1	PIK3R5	17	8784088	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	125204	8784088	72411122	75	4910											
KCNJ12	3768	broad.mit.edu	37	chr17	21318735	21318735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtcaccatgtcgggCgccaacggcttcggcaacgg	7	6	13	15	5	1	0	1	0	0	0	3	0	1	0	3	5	2	2	3	5	2	1	rs371425635		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:21318735C>T	ENST00000583088.1	+	3	976	c.81C>T	c.(79-81)ggC>ggT	p.G27G	KCNJ12_ENST00000331718.5_Silent_p.G27G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	27					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCATGTCGGGCGCCAACGGCT	0.657										Prostate(3;0.18)																												uc021tss.1																			0											c.(79-81)ggC>ggT		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.		C		0,4406		0,0,2203	76	66	70		81	-10.7	0	17		70	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	KCNJ12	NM_021012.4		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		27/434	21318735	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21318735C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.81C>T	17.37:g.21318735C>T						KCNJ18_uc002gyv.1_Silent_p.G27G|KCNJ18_uc021tst.1_Silent_p.G27G	p.G27G	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	451	+			27					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.81C>T	CCDS11219.1																																																																																				0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21318735	C	T	21318735	2	4	73	1	0	0	0	0	0	0	0	1	8046	755	27	1		1	KCNJ12	17	21318735	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	12534647	21318735	59876475	76	4911											
CCL14	6358	broad.mit.edu	37	chr17	34313606	34313606	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaggcattgcactcaCgtgaggaggattcagtcttg	12	9	12	8	1	3	2	2	1	1	1	3	4	3	4	0	3	1	2	0	3	2	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:34313606C>A	ENST00000394509.4	-	1	188		c.e1+1		CCL14_ENST00000536149.1_Splice_Site|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000591669.1_Missense_Mutation_p.R18S|CCL14_ENST00000435911.2_Splice_Site|CCL15-CCL14_ENST00000481427.2_Splice_Site|CCL14_ENST00000586216.1_Splice_Site			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14						cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGCACTCACGTGAGGAGGA	0.557																																						uc010wcs.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.e5+1		Homo sapiens CCL14-CCL15 readthrough (CCL14-CCL15), transcript variant 1, non-coding RNA.							188	135	153					17																	34313606		2203	4300	6503	SO:0001630	splice_region_variant	348249				cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	g.chr17:34313606C>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.79+1G>T	17.37:g.34313606C>A						CCL14_uc010wcq.1_Intron|CCL14_uc010wcr.1_Intron|CCL14_uc002hkn.2_Intron|CCL15_uc010wct.2_Splice_Site|BC070118_uc002hkq.3_Non-coding_Transcript				Q16663	CCL15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5		-		Ovarian(249;0.17)						E1P649|E1P650|Q13954	Splice_Site	SNP	ENST00000394509.4	37	c.1075_splice	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290752	0.23564	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	.	.	.	4.74	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9992	0.36072	0.0:0.8999:0.0:0.1001	.	.	.	.	.	-1	.	.	.	-	.	.	CCL14	31337719	0.556000	0.26538	0.226000	0.23910	0.001000	0.01503	0.792000	0.26929	1.214000	0.43395	-0.222000	0.12452	.		0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962	Intron	A	34313606	C	A	34313606	5	1	73	1	0	0	0	0	0	0	1	0	2885	550	19	5	265	5	CCL14	17	34313606	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	12994871	34313606	46881604	77	4912											
ERN1	2081	broad.mit.edu	37	chr17	62144066	62144066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgtctccttggggaaCgggtacttccactttgtgat	5	14	11	11	1	2	1	0	1	2	0	4	2	3	2	3	3	2	1	3	3	2	4	rs183713088	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:62144066C>T	ENST00000433197.3	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P	ERN1_ENST00000577567.1_5'Flank	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													C|||	2	0.000399361	0.0015	0	5008	,	,		18721	0		0	False		,,,				2504	0					uc002jdz.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(805-807)ccG>ccA		Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.		C		0,4176		0,0,2088	50	53	52		807	-11.1	0	17		52	1,8455		0,1,4227	no	coding-synonymous	ERN1	NM_001433.3		0,1,6315	TT,TC,CC		0.0118,0.0,0.0079		269/978	62144066	1,12631	2088	4228	6316	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62144066C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.807G>A	17.37:g.62144066C>T							p.P269P	NM_001433	NP_001424	O75460	ERN1_HUMAN			7	920	-			269						Silent	SNP	ENST00000433197.3	37	c.807G>A	CCDS45762.1																																																																																				0.592	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		T	62144066	C	T	62144066	2	4	73	1	0	0	0	0	0	0	0	1	5237	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	27830460	62144066	19051144	78	4913											
SLC16A5	9121	broad.mit.edu	37	chr17	73096774	73096774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctactgcctggcgtacaGcgtgtccatgagtggcatcg	6	9	15	11	3	0	1	0	1	0	0	2	1	1	1	2	3	4	3	2	3	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:73096774G>A	ENST00000450736.2	+	4	1431	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N	SLC16A5_ENST00000538213.2_Missense_Mutation_p.S379N|SLC16A5_ENST00000580123.1_Missense_Mutation_p.S339N|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S339N			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	339					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGCGTACAGCGTGTCCATG	0.592																																						uc002jmr.3																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1015-1017)aGc>aAc		Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	Pyruvic acid(DB00119)						350	299	316					17																	73096774		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096774G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1016G>A	17.37:g.73096774G>A	ENSP00000390564:p.Ser339Asn					SLC16A5_uc002jmt.3_Missense_Mutation_p.S339N|SLC16A5_uc002jmu.3_Missense_Mutation_p.S339N|SLC16A5_uc010wrt.2_Missense_Mutation_p.S379N	p.S339N	NM_004695	NP_004686	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1388	+	all_lung(278;0.226)		339					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.1016G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879778	0.91740	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.42131	0.98;0.98;0.98	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.042676	0.85682	D	0.000000	T	0.60689	0.2288	L	0.55481	1.735	0.51767	D	0.999936	D;D	0.71674	0.996;0.998	D;D	0.71656	0.964;0.974	T	0.64905	-0.6297	10	0.87932	D	0	.	18.0503	0.89345	0.0:0.0:1.0:0.0	.	379;339	B4E288;O15375	.;MOT6_HUMAN	N	339;339;379	ENSP00000330141:S339N;ENSP00000390564:S339N;ENSP00000440212:S379N	ENSP00000330141:S339N	S	+	2	0	SLC16A5	70608369	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.813000	0.99286	2.350000	0.79820	0.561000	0.74099	AGC		0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		A	73096774	G	A	73096774	3	1	73	1	0	0	0	0	1	0	0	0	14411	971	34	3	1026	3	SLC16A5	17	73096774	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	10952708	73096774	8098436	79	4914											
ENGASE	64772	broad.mit.edu	37	chr17	77081747	77081747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctgctgctagacctcctCgtttgcttctcacggccgcc	3	12	9	17	3	1	1	1	0	1	1	4	1	2	1	5	1	4	4	5	1	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:77081747C>T	ENST00000579016.1	+	13	1746	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	582						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TAGACCTCCTCGTTTGCTTCT	0.662																																						uc002jwv.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1744-1746)ctC>ctT		Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.							41	46	44					17																	77081747		2080	4217	6297	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77081747C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1746C>T	17.37:g.77081747C>T						ENGASE_uc002jww.3_Silent_p.L287L	p.L582L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			12	1754	+			582					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.1746C>T	CCDS42394.1																																																																																				0.662	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		T	77081747	C	T	77081747	2	4	73	1	0	0	0	0	0	0	0	1	5118	871	31	2		2	ENGASE	17	77081747	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	3984973	77081747	4113463	80	4915											
CCDC68	80323	broad.mit.edu	37	chr18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtttctcagagctgctgctCctgcttctctggaggcttgc	3	14	11	13	1	2	1	1	0	2	1	5	2	3	2	1	2	5	6	1	2	0	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:52604167C>T	ENST00000591504.1	-	6	642	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_ENST00000432185.1_Missense_Mutation_p.G123E|CCDC68_ENST00000337363.4_Missense_Mutation_p.G123E	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418																																						uc002lfs.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14						c.(367-369)gGa>gAa		Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.							121	106	111					18																	52604167		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52604167C>T		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma associated antigen"					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.368G>A	18.37:g.52604167C>T	ENSP00000466690:p.Gly123Glu					CCDC68_uc002lft.3_Missense_Mutation_p.G123E	p.G123E	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	5	540	-			123					B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.368G>A	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449933	0.84101	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.39997	1.05;1.05	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000008	T	0.63510	0.2517	M	0.73598	2.24	0.45541	D	0.998494	D	0.89917	1.0	D	0.97110	1.0	T	0.57154	-0.7860	10	0.20519	T	0.43	-28.4592	16.7359	0.85447	0.0:1.0:0.0:0.0	.	123	Q9H2F9	CCD68_HUMAN	E	123	ENSP00000337209:G123E;ENSP00000413406:G123E	ENSP00000337209:G123E	G	-	2	0	CCDC68	50755165	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.102000	0.57776	2.775000	0.95449	0.650000	0.86243	GGA		0.418	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		T	52604167	C	T	52604167	3	4	73	1	0	0	0	0	1	0	0	0	2840	855	30	3	667	3	CCDC68	18	52604167	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		52604167	25473081	81	4916											
DOK6	220164	broad.mit.edu	37	chr18	67365777	67365777	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgtggcctctcagcTcactgaggagatacggtcgg	7	10	15	9	2	2	3	2	2	1	1	4	4	2	3	1	5	2	1	1	5	1	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:67365777T>A	ENST00000382713.5	+	5	737	c.547T>A	c.(547-549)Tca>Aca	p.S183T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	183	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCCTCTCAGCTCACTGAGGAG	0.463																																						uc002lkl.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(547-549)Tca>Aca		Homo sapiens docking protein 6 (DOK6), mRNA.							102	84	90					18																	67365777		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365777T>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.547T>A	18.37:g.67365777T>A	ENSP00000372160:p.Ser183Thr						p.S183T	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			4	744	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	183			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.547T>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101900	0.56183	.	.	ENSG00000206052	ENST00000382713	D	0.82433	-1.61	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	L	0.34521	1.04	0.58432	D	0.999998	P	0.51933	0.949	P	0.45660	0.489	T	0.76000	-0.3119	10	0.23302	T	0.38	.	15.1721	0.72881	0.0:0.0:0.0:1.0	.	183	Q6PKX4	DOK6_HUMAN	T	183	ENSP00000372160:S183T	ENSP00000372160:S183T	S	+	1	0	DOK6	65516757	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.185000	0.72013	2.187000	0.69744	0.482000	0.46254	TCA		0.463	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		A	67365777	T	A	67365777	3	1	73	1	0	0	0	0	1	0	0	0	4701	1551	54	5	565	5	DOK6	18	67365777	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	14761610	67365777	10711471	82	4917											
FZR1	51343	broad.mit.edu	37	chr19	3531983	3531983	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagggacatccgcAccccgccactgcagtcggag	8	5	12	16	3	0	1	0	0	0	1	3	3	2	3	5	2	2	3	5	2	0	0	rs200584048		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:3531983A>C	ENST00000395095.3	+	9	898	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	FZR1_ENST00000441788.2_Missense_Mutation_p.T300P|FZR1_ENST00000313639.8_Missense_Mutation_p.T211P	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	300					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCCGCACCCCGCCACT	0.711																																						uc010dtk.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(898-900)Acc>Ccc		Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.							8	10	9					19																	3531983		2136	4221	6357	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3531983A>C	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.898A>C	19.37:g.3531983A>C	ENSP00000378529:p.Thr300Pro					FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	p.T300P	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	8	932	+			300					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.898A>C	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537243	0.65085	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.59502	1.35;1.35;0.26	5.42	1.97	0.26223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.250630	0.46758	D	0.000275	T	0.64360	0.2591	M	0.69248	2.105	0.51012	D	0.999904	B;P;P	0.47034	0.352;0.725;0.889	B;P;P	0.58013	0.163;0.533;0.831	T	0.61584	-0.7033	10	0.62326	D	0.03	-34.4525	5.2095	0.15308	0.6487:0.0:0.0798:0.2715	.	300;211;300	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	P	300;300;211	ENSP00000410369:T300P;ENSP00000378529:T300P;ENSP00000321800:T211P	ENSP00000321800:T211P	T	+	1	0	FZR1	3482983	0.703000	0.27826	0.927000	0.36925	0.829000	0.46940	1.802000	0.38853	0.304000	0.22809	0.459000	0.35465	ACC		0.711	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		C	3531983	A	C	3531983	3	2	73	1	0	0	0	0	1	0	0	0	6138	159	6	5	932	5	FZR1	19	3531983	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08		3531983	55597000	83	4918											
ZNF442	79973	broad.mit.edu	37	chr19	12461021	12461021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacatttacatttataggGtttctctccagtgtgagttg	8	16	8	9	0	1	1	0	1	1	0	3	1	2	1	2	1	1	2	2	1	3	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:12461021G>A	ENST00000242804.4	-	6	1960	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.P391S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATTTATAGGGTTTCTCTCCA	0.378																																						uc002mtr.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1378-1380)Ccc>Tcc		Homo sapiens zinc finger protein 442 (ZNF442), mRNA.							62	67	65					19																	12461021		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461021G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1378C>T	19.37:g.12461021G>A	ENSP00000242804:p.Pro460Ser					ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	p.P460S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			5	1989	-			460					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1378C>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327403	0.60743	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.28454	1.61;1.61	0.832	0.832	0.18867	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46210	0.1381	M	0.69358	2.11	0.34097	D	0.661457	D	0.76494	0.999	D	0.68039	0.955	T	0.58165	-0.7684	9	0.62326	D	0.03	.	7.4953	0.27485	0.0:0.0:1.0:0.0	.	460	Q9H7R0	ZN442_HUMAN	S	460;391	ENSP00000242804:P460S;ENSP00000388634:P391S	ENSP00000242804:P460S	P	-	1	0	ZNF442	12322021	1.000000	0.71417	0.874000	0.34290	0.643000	0.38383	5.433000	0.66520	0.737000	0.32582	0.313000	0.20887	CCC		0.378	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		A	12461021	G	A	12461021	3	1	73	1	0	0	0	0	1	0	0	0	17912	1261	44	3	509	3	ZNF442	19	12461021	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	8929038	12461021	46667962	84	4919											
PSG8	440533	broad.mit.edu	37	chr19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggctgggcttcaatcGtgacttgggcagtcgtgggt	4	13	17	7	2	1	1	1	1	0	0	3	1	1	1	0	5	0	4	0	5	1	3	rs142689447		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:43268388G>A	ENST00000306511.4	-	2	207	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T37M|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	37	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													.|||	1	0.000199681	0	0	5008	,	,		21250	0		0.001	False		,,,				2504	0					uc002ouo.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(109-111)aCg>aTg		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.		G	MET/THR,,MET/THR	0,4406		0,0,2203	173	170	171		110,,110	1.4	0	19	dbSNP_134	171	8,8590	6.4+/-24.3	0,8,4291	no	missense,intron,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	81,,81	0,8,6494	AA,AG,GG		0.093,0.0,0.0615	benign,,benign	37/420,,37/427	43268388	8,12996	2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268388G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.110C>T	19.37:g.43268388G>A	ENSP00000305005:p.Thr37Met					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T37M|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	p.T37M	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			1	208	-		Prostate(69;0.00899)	37			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.110C>T	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	5.019	0.189287	0.09547	0.0	9.3E-4	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.68331	-0.32;-0.32;-0.32	1.35	1.35	0.21983	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72415	0.3457	M	0.77712	2.385	0.09310	N	1	P;B;P;B;B	0.44690	0.841;0.062;0.538;0.174;0.208	P;B;B;B;B	0.52646	0.705;0.063;0.204;0.066;0.109	T	0.60662	-0.7219	9	0.49607	T	0.09	.	6.1568	0.20342	0.0:0.0:1.0:0.0	.	37;37;37;37;37	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	M	37	ENSP00000385869:T37M;ENSP00000386090:T37M;ENSP00000305005:T37M	ENSP00000305005:T37M	T	-	2	0	PSG8	47960228	0.007000	0.16637	0.011000	0.14972	0.031000	0.12232	2.204000	0.42761	1.063000	0.40649	0.184000	0.17185	ACG		0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			A	43268388	G	A	43268388	3	1	73	1	0	0	0	0	1	0	0	0	12661	1145	40	1	1207	1	PSG8	19	43268388	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	30807367	43268388	15860595	85	4920											
RTN2	6253	broad.mit.edu	37	chr19	45998164	45998164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggagaaggtcagctccCggggggtgccccagtcctgc	6	7	16	12	1	1	1	1	0	0	1	3	2	3	1	4	5	3	2	4	5	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:45998164C>T	ENST00000245923.4	-	3	414	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.R60Q|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	60					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGTCAGCTCCCGGGGGGTGCC	0.662																																						uc002pcb.3																			0		p.R60W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(178-180)cGg>cAg		Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.							28	31	30					19																	45998164		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998164C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.179G>A	19.37:g.45998164C>T	ENSP00000245923:p.Arg60Gln					RTN2_uc002pcc.3_Missense_Mutation_p.R60Q|RTN2_uc002pcd.3_Non-coding_Transcript	p.R60Q	NM_005619	NP_005610	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	2	409	-		Ovarian(192;0.051)|all_neural(266;0.112)	60					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.179G>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663444	0.88251	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.57273	0.45;0.41	5.44	5.44	0.79542	.	0.138626	0.31797	N	0.007051	T	0.60521	0.2275	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.57021	-0.7882	10	0.33141	T	0.24	-24.8057	14.7561	0.69567	0.0:1.0:0.0:0.0	.	60;60	O75298-2;O75298	.;RTN2_HUMAN	Q	60	ENSP00000345127:R60Q;ENSP00000245923:R60Q	ENSP00000245923:R60Q	R	-	2	0	RTN2	50690004	0.998000	0.40836	0.985000	0.45067	0.571000	0.35966	5.475000	0.66787	2.561000	0.86390	0.462000	0.41574	CGG		0.662	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		T	45998164	C	T	45998164	3	4	73	1	0	0	0	0	1	0	0	0	13726	652	23	2	1494	2	RTN2	19	45998164	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	2729776	45998164	13130819	86	4921											
TRPM4	54795	broad.mit.edu	37	chr19	49686170	49686170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacccaggccagggcttCggggagagcgtaaggaccgg	8	4	16	13	3	1	1	1	0	0	1	2	3	1	2	4	6	1	2	4	6	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:49686170C>T	ENST00000252826.5	+	11	1725	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TRPM4_ENST00000427978.2_Silent_p.F533F|TRPM4_ENST00000355712.5_Silent_p.F179F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	533					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCAGGGCTTCGGGGAGAGCG	0.711																																						uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(1597-1599)ttC>ttT		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.							6	9	8					19																	49686170		1962	3927	5889	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49686170C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1599C>T	19.37:g.49686170C>T						TRPM4_uc010emu.3_Silent_p.F533F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Silent_p.F359F|TRPM4_uc010emv.3_Silent_p.F418F|TRPM4_uc010yal.2_Silent_p.F179F|TRPM4_uc002pmy.3_5'UTR	p.F533F	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	10	1707	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	533					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.1599C>T	CCDS33073.1																																																																																				0.711	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		T	49686170	C	T	49686170	2	4	73	1	0	0	0	0	0	0	0	1	16585	883	31	2		2	TRPM4	19	49686170	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	3688006	49686170	9442813	87	4922											
SULF2	55959	broad.mit.edu	37	chr20	46318884	46318884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttacatgtgctgagatgcGtttgggaagaggcgtgaata	10	11	15	5	2	0	3	0	2	0	2	0	5	0	4	0	2	3	3	0	2	4	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:46318884G>A	ENST00000359930.4	-	5	1574	c.723C>T	c.(721-723)aaC>aaT	p.N241N	SULF2_ENST00000484875.1_Silent_p.N241N|SULF2_ENST00000467815.1_Silent_p.N241N|SULF2_ENST00000361612.4_Silent_p.N241N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	241					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.N241K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGAGATGCGTTTGGGAAGA	0.567																																						uc002xto.3																			1	Substitution - Missense(1)	p.N241K(2)	lung(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(721-723)aaC>aaT		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							173	133	146					20																	46318884		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46318884G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.723C>T	20.37:g.46318884G>A						SULF2_uc002xtr.3_Silent_p.N241N|SULF2_uc002xtq.3_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	p.N241N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			4	1053	-			241					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.723C>T	CCDS13408.1																																																																																				0.567	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46318884	G	A	46318884	2	1	73	1	0	0	0	0	0	0	0	1	15370	1136	40	1		1	SULF2	20	46318884	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		46318884	16706636	88	4923											
HRH3	11255	broad.mit.edu	37	chr20	60791774	60791774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacgctgaggaagggcGtaaagaactccagggtggaa	13	5	17	6	2	0	3	0	2	0	1	1	5	1	5	1	5	1	2	1	5	5	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:60791774G>A	ENST00000340177.5	-	3	910	c.626C>T	c.(625-627)aCg>aTg	p.T209M	HRH3_ENST00000317393.6_Missense_Mutation_p.T209M	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	209					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GAGGAAGGGCGTAAAGAACTC	0.612																																						uc002yci.3																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(625-627)aCg>aTg		Homo sapiens histamine receptor H3 (HRH3), mRNA.	Histamine Phosphate(DB00667)						85	71	76					20																	60791774		2203	4300	6503	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791774G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.626C>T	20.37:g.60791774G>A	ENSP00000342560:p.Thr209Met					HRH3_uc002ycf.2_Missense_Mutation_p.T209M|HRH3_uc002ych.3_Missense_Mutation_p.T209M|HRH3_uc002ycg.3_Missense_Mutation_p.T209M	p.T209M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		2	923	-	Breast(26;7.76e-09)		209					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.626C>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293823	0.60086	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.37411	1.2;1.2	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.162163	0.53938	D	0.000049	T	0.53077	0.1774	L	0.45581	1.43	0.50467	D	0.999871	D;P;D;P	0.89917	1.0;0.593;0.985;0.952	D;B;P;P	0.68765	0.96;0.096;0.652;0.701	T	0.57177	-0.7856	10	0.62326	D	0.03	-32.0018	17.3247	0.87244	0.0:0.0:1.0:0.0	.	209;209;209;209	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	M	209	ENSP00000342560:T209M;ENSP00000321482:T209M	ENSP00000321482:T209M	T	-	2	0	HRH3	60225169	1.000000	0.71417	0.988000	0.46212	0.563000	0.35712	6.319000	0.72871	2.143000	0.66587	0.205000	0.17691	ACG		0.612	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		A	60791774	G	A	60791774	3	1	73	1	0	0	0	0	1	0	0	0	7357	1145	40	1	715	1	HRH3	20	60791774	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	14472890	60791774	2233746	89	4924											
COL6A2	1292	broad.mit.edu	37	chr21	47535812	47535812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaacatgggtgagccGggagagcctggccagaaggg	11	3	19	8	1	0	3	0	1	0	2	0	4	0	3	3	5	3	1	3	5	3	0	rs140790797		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr21:47535812G>A	ENST00000300527.4	+	6	932	c.828G>A	c.(826-828)ccG>ccA	p.P276P	COL6A2_ENST00000310645.5_Silent_p.P276P|COL6A2_ENST00000357838.4_Silent_p.P276P|COL6A2_ENST00000409416.1_Silent_p.P276P|COL6A2_ENST00000397763.1_Silent_p.P276P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	276	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGGTGAGCCGGGAGAGCCTG	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		15851	0		0	False		,,,				2504	0					uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(826-828)ccG>ccA		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		G	,,	3,4399	6.2+/-15.9	0,3,2198	61	55	57		828,828,828	-8	0.6	21	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,4,6496	AA,AG,GG		0.0116,0.0682,0.0308	,,	276/1020,276/919,276/829	47535812	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47535812G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.828G>A	21.37:g.47535812G>A						COL6A2_uc002zhz.1_Silent_p.P276P|COL6A2_uc002zhy.1_Silent_p.P276P	p.P276P	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	5	910	+	Breast(49;0.245)		276			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.828G>A	CCDS13728.1																																																																																				0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47535812	G	A	47535812	2	1	73	1	0	0	0	0	0	0	0	1	3700	1103	39	2		2	COL6A2	21	47535812	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		47535812	594083	90	4925											
TRIOBP	11078	broad.mit.edu	37	chr22	38119624	38119624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcacccaactggataaccCcagaacctcttctacccagc	13	6	5	17	0	2	1	0	0	2	1	2	2	2	2	5	1	6	1	5	1	5	3	rs559855483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:38119624C>A	ENST00000406386.3	+	7	1316	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	354					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGGATAACCCCAGAACCTCT	0.577													C|||	1	0.000199681	0	0	5008	,	,		17056	0.001		0	False		,,,				2504	0					uc003atr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1060-1062)cCc>cAc		Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.							128	140	136					22																	38119624		1888	4110	5998	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119624C>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1061C>A	22.37:g.38119624C>A	ENSP00000384312:p.Pro354His					TRIOBP_uc003atu.3_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	p.P354H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			6	1332	+	Melanoma(58;0.0574)		354					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1061C>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211935	0.39102	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22134	1.97	4.53	2.42	0.29668	.	.	.	.	.	T	0.19644	0.0472	L	0.36672	1.1	0.09310	N	0.999999	D	0.58620	0.983	P	0.46975	0.533	T	0.09773	-1.0659	9	0.87932	D	0	.	6.8258	0.23883	0.0:0.7025:0.0:0.2975	.	354	Q9H2D6	TARA_HUMAN	H	354	ENSP00000384312:P354H	ENSP00000384312:P354H	P	+	2	0	TRIOBP	36449570	0.000000	0.05858	0.002000	0.10522	0.255000	0.26057	0.402000	0.20965	0.477000	0.27464	0.456000	0.33151	CCC		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38119624	C	A	38119624	3	1	73	1	0	0	0	0	1	0	0	0	16550	623	22	5	1079	5	TRIOBP	22	38119624	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		38119624	13184942	91	4926											
PNPLA5	150379	broad.mit.edu	37	chr22	44287074	44287074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagcatcctgcagctgCtgcttgacgtgctcgatggg	6	9	15	11	2	0	2	0	1	0	1	2	3	1	2	1	2	6	7	1	2	0	1	rs79793310	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:44287074C>A	ENST00000597664.1	-	2	423	c.294G>T	c.(292-294)caG>caT	p.Q98H	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Missense_Mutation_p.Q98H|PNPLA5_ENST00000593866.1_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	98	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTGCAGCTGCTGCTTGACGT	0.662																																						uc003beg.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.(292-294)caG>caT		Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.							39	36	37					22																	44287074		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44287074C>A	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.294G>T	22.37:g.44287074C>A	ENSP00000471069:p.Gln98His					PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.Q98H|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_5'UTR	p.Q98H	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			1	427	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	98			Patatin.		B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.294G>T		.	.	.	.	.	.	.	.	.	.	C	12.52	1.962826	0.34659	.	.	ENSG00000100341	ENST00000216177;ENST00000438734	T;T	0.77620	-1.11;-1.11	4.83	-1.28	0.09318	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.434770	0.04432	N	0.369376	T	0.66954	0.2842	L	0.46614	1.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44620	-0.9316	10	0.37606	T	0.19	-1.4166	1.5041	0.02483	0.1485:0.4388:0.1451:0.2677	.	98	Q7Z6Z6	PLPL5_HUMAN	H	98	ENSP00000216177:Q98H;ENSP00000405732:Q98H	ENSP00000216177:Q98H	Q	-	3	2	PNPLA5	42618407	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.174000	0.09839	-0.072000	0.12864	-0.500000	0.04577	CAG		0.662	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		A	44287074	C	A	44287074	3	1	73	1	0	0	0	0	1	0	0	0	12168	796	28	5	1027	5	PNPLA5	22	44287074	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	6167450	44287074	7017492	92	4927											
VCX2	51480	broad.mit.edu	37	chrX	8138151	8138151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctcgctctcctgactCagtggttcttccacctcgct	4	13	6	18	2	3	1	1	1	2	0	8	1	5	1	5	1	0	3	5	1	0	2	rs202165418		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:8138151C>T	ENST00000317103.4	-	3	648	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	114	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TCTCCTGACTCAGTGGTTCTT	0.642																																						uc004csb.3																			0				endometrium(1)	1						c.(340-342)ctG>ctA		Homo sapiens variable charge, X-linked 2 (VCX2), mRNA.		C		2,3826		0,2,1629,566	64	69	67		342	-0.1	0	X		67	0,6708		0,0,2424,1860	no	coding-synonymous	VCX2	NM_016378.2		0,2,4053,2426	TT,TC,CC,C		0.0,0.0522,0.019		114/140	8138151	2,10534	2197	4284	6481	SO:0001819	synonymous_variant	51480							g.chrX:8138151C>T	AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.342G>A	X.37:g.8138151C>T							p.L114L	NM_016378	NP_057462	Q9H322	VCX2_HUMAN			2	649	-		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	114			2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		A3KPB6|Q4V9T2|Q9P0H5	Silent	SNP	ENST00000317103.4	37	c.342G>A	CCDS35200.1																																																																																				0.642	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		T	8138151	C	T	8138151	2	4	73	1	0	0	0	0	0	0	0	1	17140	813	29	3		3	VCX2	23	8138151	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		8138151	147132409	93	4928											
PHEX	5251	broad.mit.edu	37	chrX	22112133	22112133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttacaagttcatggtggaTactgccgtgcttttaggagc	8	14	11	8	1	1	0	1	0	0	0	1	2	1	2	1	3	5	2	1	3	4	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:22112133T>C	ENST00000379374.4	+	7	1330	c.765T>C	c.(763-765)gaT>gaC	p.D255D	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.D255D|PHEX_ENST00000535894.1_Silent_p.D158D	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	255					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCATGGTGGATACTGCCGTGC	0.408																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(763-765)gaT>gaC		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							167	153	158					X																	22112133		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112133T>C	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.765T>C	X.37:g.22112133T>C						PHEX_uc011mjr.2_Silent_p.D255D|PHEX_uc011mjs.2_Silent_p.D158D	p.D255D	NM_000444	NP_000435	P78562	PHEX_HUMAN			6	968	+			255					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.765T>C	CCDS14204.1																																																																																				0.408	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		C	22112133	T	C	22112133	2	2	73	1	0	0	0	0	0	0	0	1	11819	1403	49	4		4	PHEX	23	22112133	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	13973982	22112133	133158427	94	4929											
BCOR	54880	broad.mit.edu	37	chrX	39922999	39923002	+	Frame_Shift_Del	DEL	CTTC	CTTC	-																															aggctgagtggcctgggtcaCttccttcctgctttgccggc																										TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:39922999_39923002delCTTC	ENST00000378444.4	-	8	3934_3937	c.3706_3709delGAAG	c.(3706-3711)gaagtgfs	p.EV1236fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.EV1202fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.EV1184fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.EV1202fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.EV79fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1236					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTGGGTCACTTCCTTCCTGCTT	0.559			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3706-3711)gaagtgfs		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922999_39923002delCTTC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3706_3709delGAAG	X.37:g.39923003_39923006delCTTC	ENSP00000367705:p.Glu1236fs					BCOR_uc004dep.4_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.4_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Del_p.E1202fs	p.E1236fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			7	3998_4001	-			1236					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.3706_3709delGAAG	CCDS48093.1																																																																																				0.559	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		-	39923002	CTTC	-	39922999	7	5	73	1	0	1	0	1	0	0	0	0	1386	565	20	0	1590	0	BCOR	23	39922999	Frame_Shift_Del	DEL	CTTC	TCGA-06-1804-01A-01D-1696-08	17810866	39922999	115347561	95	4930											
SLC9A7	84679	broad.mit.edu	37	chrX	46618211	46618211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagccagatggtgaggAtggtgagcgtgagcagcagg	11	6	19	5	1	0	6	0	4	0	2	0	7	0	7	1	4	4	2	1	4	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:46618211A>T	ENST00000328306.4	-	1	279	c.254T>A	c.(253-255)aTc>aAc	p.I85N		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	85					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATGGTGAGGATGGTGAGCGT	0.632																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(253-255)aTc>aAc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.							60	41	47					X																	46618211		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46618211A>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.254T>A	X.37:g.46618211A>T	ENSP00000330320:p.Ile85Asn					SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	p.I85N	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			0	262	-			85					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.254T>A	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457394	0.84317	.	.	ENSG00000065923	ENST00000328306	T	0.16324	2.35	4.63	4.63	0.57726	Cation/H+ exchanger (1);	0.793406	0.12179	N	0.492283	T	0.46658	0.1404	M	0.84585	2.705	0.58432	D	0.999999	D	0.63880	0.993	D	0.70716	0.97	T	0.45948	-0.9226	10	0.87932	D	0	.	13.2051	0.59790	1.0:0.0:0.0:0.0	.	85	Q96T83	SL9A7_HUMAN	N	85	ENSP00000330320:I85N	ENSP00000330320:I85N	I	-	2	0	SLC9A7	46503155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.966000	0.87956	1.845000	0.53610	0.372000	0.22366	ATC		0.632	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		T	46618211	A	T	46618211	3	4	73	1	0	0	0	0	1	0	0	0	14719	333	12	5	1991	5	SLC9A7	23	46618211	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	6695212	46618211	108652349	96	4931											
HUWE1	10075	broad.mit.edu	37	chrX	53600812	53600812	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgccagaagacgaaggatAgtggaggtaggcattaaagg	14	7	15	5	1	1	2	0	0	1	2	1	5	1	4	1	5	1	2	1	5	6	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:53600812A>G	ENST00000342160.3	-	46	6667	c.6210T>C	c.(6208-6210)acT>acC	p.T2070T	HUWE1_ENST00000262854.6_Silent_p.T2070T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2070					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACGAAGGATAGTGGAGGTAG	0.502																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6208-6210)acT>acC		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							241	179	200					X																	53600812		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53600812A>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6210T>C	X.37:g.53600812A>G						HUWE1_uc004dsn.3_Silent_p.T894T	p.T2070T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			46	6612	-			2070					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.6210T>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471816	0.26423	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.89	4.76	0.60689	.	.	.	.	.	T	0.48150	0.1484	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49194	-0.8965	4	.	.	.	.	3.5753	0.07932	0.6584:0.0:0.3416:0.0	.	.	.	.	H	1104	.	.	Y	-	1	0	HUWE1	53617537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.262000	0.58847	1.981000	0.57761	0.441000	0.28932	TAT		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53600812	A	G	53600812	2	3	73	1	0	0	0	0	0	0	0	1	7461	407	15	4		4	HUWE1	23	53600812	Silent	SNP	A	TCGA-06-1804-01A-01D-1696-08	6982601	53600812	101669748	97	4932											
POF1B	79983	broad.mit.edu	37	chrX	84634246	84634246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggggagagcacttcccGtgagttgaaggggtccaagg	10	6	18	7	1	0	4	0	2	0	2	2	6	2	4	2	5	1	2	2	5	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:84634246G>A	ENST00000262753.4	-	2	359	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	POF1B_ENST00000373145.3_Missense_Mutation_p.R72W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	72						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCACTTCCCGTGAGTTGAAG	0.517																																						uc004eer.2																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(214-216)Cgg>Tgg		Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.							109	86	94					X																	84634246		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634246G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.214C>T	X.37:g.84634246G>A	ENSP00000262753:p.Arg72Trp					POF1B_uc004ees.3_Missense_Mutation_p.R72W	p.R72W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			1	360	-			72					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.214C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208893	0.22205	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.12465	2.69;2.68	5.67	3.87	0.44632	.	1.262040	0.05755	N	0.603852	T	0.13670	0.0331	N	0.14661	0.345	0.09310	N	1	D;D	0.54772	0.968;0.968	P;P	0.47015	0.534;0.534	T	0.39820	-0.9595	10	0.66056	D	0.02	.	10.5581	0.45129	0.0:0.0:0.6498:0.3502	.	72;72	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	W	72	ENSP00000262753:R72W;ENSP00000362238:R72W	ENSP00000262753:R72W	R	-	1	2	POF1B	84520902	0.821000	0.29204	0.009000	0.14445	0.006000	0.05464	1.955000	0.40372	0.530000	0.28619	-0.293000	0.09583	CGG		0.517	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		A	84634246	G	A	84634246	3	1	73	1	0	0	0	0	1	0	0	0	12182	1144	40	1	1619	1	POF1B	23	84634246	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	31033434	84634246	70636314	98	4933											
AGTR2	186	broad.mit.edu	37	chrX	115303791	115303791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatatacatcttcaacctCgctgtggctgatttactcct	9	14	6	12	1	2	1	1	1	1	0	4	1	3	1	2	1	4	3	2	1	4	5	rs13306157		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:115303791C>T	ENST00000371906.4	+	3	448	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	86					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TCTTCAACCTCGCTGTGGCTG	0.378													C|||	2	0.000529801	0	0	3775	,	,		15158	0.002		0	False		,,,				2504	0					uc022cdd.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(256-258)ctC>ctT		Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.							205	197	200					X																	115303791		2203	4300	6503	SO:0001819	synonymous_variant	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303791C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.258C>T	X.37:g.115303791C>T						AGTR2_uc004eqh.4_Silent_p.L86L	p.L86L	NM_000686	NP_000677	P50052	AGTR2_HUMAN			0	258	+			86					B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	c.258C>T	CCDS14569.1																																																																																				0.378	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		T	115303791	C	T	115303791	2	4	73	1	0	0	0	0	0	0	0	1	402	871	31	2		2	AGTR2	23	115303791	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	30669545	115303791	39966769	99	4934											
MAGEA5	4104	broad.mit.edu	37	chrX	151283685	151283685	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcagccaccttcttacTgagtgctgctcggaacacag	10	9	9	13	1	2	1	1	1	1	0	3	2	2	2	2	1	5	2	2	1	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:151283685T>A	ENST00000509345.2	-	0	651																											ACCTTCTTACTGAGTGCTGCT	0.488																																						uc004ffj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(328-330)Agt>Tgt		Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.							96	89	91					X																	151283685		2203	4300	6503			4104							g.chrX:151283685T>A																													X.37:g.151283685T>A						MAGEA5_uc022cgy.1_Missense_Mutation_p.S110C	p.S110C	NM_021049	NP_066387	P43359	MAGA5_HUMAN			2	500	-	Acute lymphoblastic leukemia(192;6.56e-05)		110			MAGE.			Missense_Mutation	SNP	ENST00000509345.2	37	c.328A>T																																																																																					0.488	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			A	151283685	T	A	151283685	1	1	73	0	1	0	0	0	0	0	0	0	9169	1580	55	5		5	MAGEA5	23	151283685	RNA	SNP	T	TCGA-06-1804-01A-01D-1696-08	35979894	151283685	3986875	100	4935											
ARID1A	8289	broad.mit.edu	37	chr1	27106176	27106176	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgaggatggagctaagagTtcagaggccatcaaggagag	14	5	15	7	1	2	3	2	0	0	3	2	7	2	5	2	4	1	2	2	4	2	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:27106176T>G	ENST00000324856.7	+	20	6158	c.5787T>G	c.(5785-5787)agT>agG	p.S1929R	ARID1A_ENST00000540690.1_Missense_Mutation_p.S257R|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1546R|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1712R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1929					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCTAAGAGTTCAGAGGCCA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0		p.K1928*(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5785-5787)agT>agG		Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.							128	125	126					1																	27106176		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106176T>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5787T>G	1.37:g.27106176T>G	ENSP00000320485:p.Ser1929Arg					ARID1A_uc001bmu.1_Missense_Mutation_p.S1712R|ARID1A_uc001bmx.1_Missense_Mutation_p.S775R|ARID1A_uc009vsm.1_Missense_Mutation_p.S257R|ARID1A_uc009vsn.1_Missense_Mutation_p.S171R	p.S1929R	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	19	6160	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1929					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5787T>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.066|5.066	0.197893|0.197893	0.09652|0.09652	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.10382	.|4.47;4.29;4.29;2.88	4.84|4.84	3.7|3.7	0.42460|0.42460	.|.	.|0.502799	.|0.24869	.|N	.|0.034947	T|T	0.03739|0.03739	0.0106|0.0106	N|N	0.02539|0.02539	-0.55|-0.55	0.22050|0.22050	N|N	0.999392|0.999392	.|B;B;B	.|0.26483	.|0.15;0.0;0.0	.|B;B;B	.|0.19148	.|0.024;0.0;0.0	T|T	0.42949|0.42949	-0.9421|-0.9421	5|10	.|0.12103	.|T	.|0.63	-0.2524|-0.2524	10.8152|10.8152	0.46571|0.46571	0.0:0.0751:0.0:0.9249|0.0:0.0751:0.0:0.9249	.|.	.|1546;1929;1712	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|R	826|1929;1712;1546;257	.|ENSP00000320485:S1929R;ENSP00000387636:S1712R;ENSP00000363267:S1546R;ENSP00000442437:S257R	.|ENSP00000320485:S1929R	F|S	+|+	1|3	0|2	ARID1A|ARID1A	26978763|26978763	0.780000|0.780000	0.28664|0.28664	0.965000|0.965000	0.40720|0.40720	0.287000|0.287000	0.27160|0.27160	1.918000|1.918000	0.40006|0.40006	0.966000|0.966000	0.38159|0.38159	0.402000|0.402000	0.26972|0.26972	TTC|AGT		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		G	27106176	T	G	27106176	3	3	74	1	0	0	0	0	1	0	0	0	913	1722	60	5	5865	5	ARID1A	1	27106176	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		27106176	222144445	1	4936											
OR2L3	391192	broad.mit.edu	37	chr1	248224277	248224277	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcactgggtgtgggatTcagagtttcttcttctcggc	4	16	11	10	1	5	1	2	0	3	1	7	2	6	2	1	3	0	1	1	3	0	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:248224277T>A	ENST00000359959.3	+	1	294	c.294T>A	c.(292-294)atT>atA	p.I98I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGTGTGGGATTCAGAGTTTCT	0.428																																						uc001idx.1																			0		p.G97A(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(292-294)atT>atA		Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.							221	246	238					1																	248224277		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224277T>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.294T>A	1.37:g.248224277T>A						OR2L13_uc001ids.3_Intron	p.I98I	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	294	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		98					B9EH44	Silent	SNP	ENST00000359959.3	37	c.294T>A	CCDS31104.1																																																																																				0.428	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		A	248224277	T	A	248224277	2	1	74	1	0	0	0	0	0	0	0	1	11008	1771	62	5		5	OR2L3	1	248224277	Silent	SNP	T	TCGA-06-1806-01A-02D-1845-08	221118101	248224277	1026344	2	4937											
ANTXR1	84168	broad.mit.edu	37	chr2	69240637	69240637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggctgcgggccatggcCacggcggagcggagagccct	5	3	18	15	5	0	1	0	0	0	1	0	3	0	2	4	6	3	1	4	6	0	0			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr2:69240637C>T	ENST00000303714.4	+	1	328	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ANTXR1_ENST00000409829.3_Silent_p.A2A|ANTXR1_ENST00000409349.3_Silent_p.A2A	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	2					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGCCATGGCCACGGCGGAGC	0.721									Familial Infantile Hemangioma																													uc002sfg.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(4-6)gcC>gcT		Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.							12	16	15					2																	69240637		2195	4282	6477	SO:0001819	synonymous_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69240637C>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.6C>T	2.37:g.69240637C>T						ANTXR1_uc002sfe.3_Silent_p.A2A|ANTXR1_uc002sff.3_Silent_p.A2A|ANTXR1_uc002sfd.2_Silent_p.A2A	p.A2A	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			0	362	+			2					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.6C>T	CCDS1892.1																																																																																				0.721	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		T	69240637	C	T	69240637	2	4	74	1	0	0	0	0	0	0	0	1	711	581	21	3		3	ANTXR1	2	69240637	Silent	SNP	C	TCGA-06-1806-01A-02D-1845-08		69240637	173958736	3	4938											
IDUA	3425	broad.mit.edu	37	chr4	995272	995272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtaggtacggactggcGcatgtttccaagtggaactt	9	10	14	8	2	0	0	0	0	0	0	1	2	1	2	1	5	2	5	1	5	4	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:995272G>A	ENST00000247933.4	+	5	598	c.510G>A	c.(508-510)gcG>gcA	p.A170A	IDUA_ENST00000514224.1_Silent_p.A38A|IDUA_ENST00000453894.1_Silent_p.A123A	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	170					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGACTGGCGCATGTTTCCA	0.582																																						uc003gby.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(508-510)gcG>gcA		Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	Laronidase(DB00090)						210	152	171					4																	995272		2203	4300	6503	SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995272G>A	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.510G>A	4.37:g.995272G>A						IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.A123A	p.A170A	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	598	+			170					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.510G>A	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831887	0.16820	.	.	ENSG00000127415	ENST00000504568	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.15739	0.0379	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17228	-1.0376	4	.	.	.	-9.7244	3.0353	0.06119	0.361:0.3489:0.1969:0.0932	.	.	.	.	H	157	.	.	R	+	2	0	IDUA	985272	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-1.534000	0.02212	-1.802000	0.01244	-0.314000	0.08810	CGC		0.582	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		A	995272	G	A	995272	2	1	74	1	0	0	0	0	0	0	0	1	7504	1074	38	1		1	IDUA	4	995272	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		995272	190159004	4	4939											
TMEM184C	55751	broad.mit.edu	37	chr4	148545074	148545074	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtgatattgcaacacttAgtgcattatacacaacctga	13	12	8	8	0	0	2	0	2	0	0	0	2	0	2	1	1	5	2	1	1	6	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:148545074A>G	ENST00000296582.3	+	2	787	c.213A>G	c.(211-213)ttA>ttG	p.L71L	TMEM184C_ENST00000508208.1_Silent_p.L71L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	71						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGCAACACTTAGTGCATTATA	0.338																																						uc003ila.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(211-213)ttA>ttG		Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.							132	130	130					4																	148545074		2203	4300	6503	SO:0001819	synonymous_variant	55751					integral to membrane		g.chr4:148545074A>G	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.213A>G	4.37:g.148545074A>G							p.L71L	NM_018241	NP_060711	Q9NVA4	T184C_HUMAN			1	782	+			71					D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	c.213A>G	CCDS3770.1																																																																																				0.338	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		G	148545074	A	G	148545074	2	3	74	1	0	0	0	0	0	0	0	1	16103	417	15	4		4	TMEM184C	4	148545074	Silent	SNP	A	TCGA-06-1806-01A-02D-1845-08	147549802	148545074	42609202	5	4940											
MCC	4163	broad.mit.edu	37	chr5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgccgctgccgcCgccgccgccgccgctgctgg	0	6	15	20	7	0	0	0	0	0	0	0	0	0	0	7	1	5	6	7	1	0	0	rs199741976		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						uc003kql.4																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.							5	7	7					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	0	474	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		T	112824054	C	T	112824054	3	4	74	1	0	0	0	0	1	0	0	0	9373	652	23	2	3138	2	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08		112824054	68091206	6	4941											
PCDHB7	56129	broad.mit.edu	37	chr5	140554787	140554787	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgcccatttcagaataatTtgggtttctgataaagaatg	13	14	8	6	1	2	3	1	1	1	2	3	3	2	3	1	1	0	1	1	1	5	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:140554787T>G	ENST00000231137.3	+	1	2545	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	791					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGAATAATTTGGGTTTCTG	0.423																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2371-2373)Ttg>Gtg		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							44	65	58					5																	140554787		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554787T>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2371T>G	5.37:g.140554787T>G	ENSP00000231137:p.Leu791Val					PCDHB8_uc011dai.2_5'Flank	p.L791V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2545	+			791					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2371T>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	9.615	1.132239	0.21041	.	.	ENSG00000113212	ENST00000231137	T	0.15139	2.45	4.27	1.71	0.24356	.	.	.	.	.	T	0.14056	0.0340	L	0.50333	1.59	0.09310	N	1	B	0.29481	0.245	B	0.23852	0.049	T	0.21621	-1.0240	9	0.49607	T	0.09	.	5.4212	0.16402	0.1649:0.0:0.3657:0.4694	.	791	Q9Y5E2	PCDB7_HUMAN	V	791	ENSP00000231137:L791V	ENSP00000231137:L791V	L	+	1	2	PCDHB7	140534971	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.097000	0.15168	0.122000	0.18314	-0.461000	0.05368	TTG		0.423	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		G	140554787	T	G	140554787	3	3	74	1	0	0	0	0	1	0	0	0	11547	1838	64	5	2373	5	PCDHB7	5	140554787	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	27730733	140554787	40360473	7	4942											
F13A1	2162	broad.mit.edu	37	chr6	6145963	6145963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcccagagacccagggccgGcacacttcttcccactgcac	8	6	9	18	1	1	1	0	0	1	1	2	2	2	1	4	2	2	2	4	2	0	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr6:6145963G>A	ENST00000264870.3	-	15	2353	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	696					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCAGGGCCGGCACACTTCTT	0.547																																						uc003mwv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(2086-2088)tgC>tgT		Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	L-Glutamine(DB00130)						101	89	93					6																	6145963		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6145963G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.2088C>T	6.37:g.6145963G>A						F13A1_uc011dib.2_Missense_Mutation_p.A590V	p.C696C	NM_000129	NP_000120	P00488	F13A_HUMAN			14	2211	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	696					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.2088C>T	CCDS4496.1																																																																																				0.547	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6145963	G	A	6145963	2	1	74	1	0	0	0	0	0	0	0	1	5340	1195	42	3		3	F13A1	6	6145963	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		6145963	164969104	8	4943											
IQCE	23288	broad.mit.edu	37	chr7	2644610	2644610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccacccagcgtgccAggcctcccagaccaggtaat	10	5	10	16	1	1	2	1	0	0	2	2	2	2	2	6	2	3	1	6	2	1	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:2644610A>G	ENST00000402050.2	+	19	1912	c.1728A>G	c.(1726-1728)ccA>ccG	p.P576P	IQCE_ENST00000404984.1_Silent_p.P525P|IQCE_ENST00000325979.7_Silent_p.P511P|IQCE_ENST00000438376.2_Silent_p.P560P	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	576						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCAGCGTGCCAGGCCTCCCAG	0.612																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1726-1728)ccA>ccG		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							37	44	41					7																	2644610		2165	4254	6419	SO:0001819	synonymous_variant	23288							g.chr7:2644610A>G	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1728A>G	7.37:g.2644610A>G						IQCE_uc011jvy.1_Silent_p.P560P|IQCE_uc011jvz.1_Silent_p.P511P|IQCE_uc003smo.4_Silent_p.P576P|IQCE_uc003smk.4_Silent_p.P560P|IQCE_uc003smn.4_Silent_p.P511P	p.P576P	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	18	1912	+		Ovarian(82;0.0112)	576					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.1728A>G	CCDS43542.1																																																																																				0.612	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		G	2644610	A	G	2644610	2	3	74	1	0	0	0	0	0	0	0	1	7806	175	7	4		4	IQCE	7	2644610	Silent	SNP	A	TCGA-06-1806-01A-02D-1845-08		2644610	156494053	9	4944											
CACNA2D1	781	broad.mit.edu	37	chr7	81591237	81591238	+	Missense_Mutation	DNP	CC	CC	AT																															agtttccacagtctaatacaCcactgaatgatttactgtcg																										TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:81591237_81591238CC>AT	ENST00000356253.5	-	36	3229_3230	c.2974_2975GG>AT	c.(2974-2976)GGt>ATt	p.G992I	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G980I|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G192I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	992					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTCTAATACACCACTGAATGAT	0.361																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2938-2940)ggt>ATt		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591237_81591238CC>AT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2974_2975delinsAT	7.37:g.81591237_81591238delinsAT	ENSP00000348589:p.Gly992Ile					CACNA2D1_uc011kgy.1_Missense_Mutation_p.G192I	p.G980I	NM_000722	NP_000713	P54289	CA2D1_HUMAN			35	3194_3195	-			992					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	DNP	ENST00000356253.5	37	c.2938_2939GG>AT																																																																																					0.361	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				AT	81591238	CC	AT	81591237	3	1	74	1	0	0	0	0	1	0	0	0	2548	507	18	5	352	5	CACNA2D1	7	81591237	Missense_Mutation	DNP	CC	TCGA-06-1806-01A-02D-1845-08	78946627	81591237	77547426	10	4945											
NAMPT	10135	broad.mit.edu	37	chr7	105909693	105909693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaacaaatatttggccaaTattttcttctgctctctaga	11	17	4	9	0	4	1	0	0	4	1	5	1	4	1	1	1	2	1	1	1	6	8			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:105909693T>C	ENST00000222553.3	-	5	820	c.513A>G	c.(511-513)atA>atG	p.I171M	NAMPT_ENST00000354289.4_Missense_Mutation_p.I171M|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	171					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATTTGGCCAATATTTTCTTCT	0.363																																						uc003vdq.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(511-513)atA>atG		Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.							52	49	50					7																	105909693		2203	4297	6500	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105909693T>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.513A>G	7.37:g.105909693T>C	ENSP00000222553:p.Ile171Met					NAMPT_uc003vdr.1_Missense_Mutation_p.I171M|NAMPT_uc011klu.1_Missense_Mutation_p.I84M	p.I171M	NM_005746	NP_005737	P43490	NAMPT_HUMAN			4	821	-			171					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.513A>G	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478025	0.63849	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	4.97	3.65	0.41850	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.095499	0.64402	D	0.000001	T	0.64983	0.2648	M	0.80616	2.505	0.42748	D	0.993765	D;P;P	0.59357	0.985;0.836;0.874	P;P;B	0.54889	0.763;0.488;0.435	T	0.67389	-0.5683	9	0.48119	T	0.1	-17.6167	4.6145	0.12418	0.2636:0.0:0.2597:0.4767	.	84;152;171	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	M	171	.	ENSP00000222553:I171M	I	-	3	3	NAMPT	105696929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.765000	0.38481	1.972000	0.57404	0.528000	0.53228	ATA		0.363	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		C	105909693	T	C	105909693	3	2	74	1	0	0	0	0	1	0	0	0	10149	1396	49	4	990	4	NAMPT	7	105909693	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	24318456	105909693	53228970	11	4946											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	74	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	34543443	140453136	18685527	12	4947											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585394	70585394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtaccaggccagaaaaaTaaaaataaacccaacgaatt	21	5	7	8	1	0	1	0	0	0	1	0	3	0	2	3	2	3	1	3	2	10	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr8:70585394T>C	ENST00000260126.4	-	10	2963	c.2257A>G	c.(2257-2259)Att>Gtt	p.I753V	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I698V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	753						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAGAAAAATAAAAATAAAC	0.488																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2257-2259)Att>Gtt		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							74	77	76					8																	70585394		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585394T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2257A>G	8.37:g.70585394T>C	ENSP00000260126:p.Ile753Val					SLCO5A1_uc010lzb.3_Missense_Mutation_p.I698V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	p.I753V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		9	2964	-	Breast(64;0.0654)		753					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2257A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320658	0.60634	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.80480	-1.38;-1.38	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	L	0.54323	1.7	0.45150	D	0.998168	B;B	0.28605	0.15;0.217	B;B	0.28991	0.097;0.044	T	0.72934	-0.4141	10	0.21540	T	0.41	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	698;753	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	V	753;698	ENSP00000260126:I753V;ENSP00000431611:I698V	ENSP00000260126:I753V	I	-	1	0	SLCO5A1	70747948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.077000	0.71275	2.281000	0.76405	0.533000	0.62120	ATT		0.488	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		C	70585394	T	C	70585394	3	2	74	1	0	0	0	0	1	0	0	0	14731	1406	49	4	293	4	SLCO5A1	8	70585394	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		70585394	75778628	13	4948											
QSOX2	169714	broad.mit.edu	37	chr9	139108556	139108556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcttgactggcggccGtccagggaacagctgcatga	8	8	13	12	2	1	2	0	2	1	0	2	3	2	3	2	3	4	3	2	3	1	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr9:139108556G>A	ENST00000358701.5	-	9	1136	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	367					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACTGGCGGCCGTCCAGGGAAC	0.642																																						uc010nbi.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1099-1101)Cgg>Tgg		Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.							59	56	57					9																	139108556		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139108556G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1099C>T	9.37:g.139108556G>A	ENSP00000351536:p.Arg367Trp						p.R367W	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	8	1137	-		Myeloproliferative disorder(178;0.0511)	367					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1099C>T	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.11|12.11	1.838421|1.838421	0.32513|0.32513	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000358701;ENST00000389471|ENST00000455222	T|.	0.18016|.	2.24|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.131897|.	0.49916|.	D|.	0.000126|.	T|T	0.67906|0.67906	0.2943|0.2943	M|M	0.84846|0.84846	2.72|2.72	0.31410|0.31410	N|N	0.675637|0.675637	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.73369|0.73369	-0.4004|-0.4004	10|5	0.87932|.	D|.	0|.	-25.4167|-25.4167	11.1242|11.1242	0.48308|0.48308	0.0:0.0:0.8153:0.1847|0.0:0.0:0.8153:0.1847	.|.	367|.	Q6ZRP7|.	QSOX2_HUMAN|.	W|M	367;166|134	ENSP00000351536:R367W|.	ENSP00000351536:R367W|.	R|T	-|-	1|2	2|0	QSOX2|QSOX2	138248377|138248377	1.000000|1.000000	0.71417|0.71417	0.296000|0.296000	0.24974|0.24974	0.025000|0.025000	0.11179|0.11179	3.603000|3.603000	0.54074|0.54074	1.951000|1.951000	0.56629|0.56629	0.406000|0.406000	0.27484|0.27484	CGG|ACG		0.642	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		A	139108556	G	A	139108556	3	1	74	1	0	0	0	0	1	0	0	0	12884	1144	40	1	1013	1	QSOX2	9	139108556	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08		139108556	2104875	14	4949											
SYT13	57586	broad.mit.edu	37	chr11	45273992	45273992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgctgaagtcttcagctCgccccactgggcagccccta	6	9	9	17	2	2	1	1	1	1	0	4	1	2	1	4	1	2	3	4	1	2	3	rs559653118	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45273992C>T	ENST00000020926.3	-	4	937	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	276					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTCTTCAGCTCGCCCCACTGG	0.632											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	7	0.00139776	0	0	5008	,	,		19844	0		0	False		,,,				2504	0.0072					uc001myq.2																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(826-828)Gag>Aag		Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.							63	65	65					11																	45273992		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45273992C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.826G>A	11.37:g.45273992C>T	ENSP00000020926:p.Glu276Lys		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.E132K	p.E276K	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN			3	952	-			276					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.826G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599737	0.66332	.	.	ENSG00000019505	ENST00000020926	T	0.08458	3.09	5.59	4.66	0.58398	C2 calcium/lipid-binding domain, CaLB (1);	0.201745	0.43260	D	0.000598	T	0.05914	0.0154	N	0.19112	0.55	0.35882	D	0.82899	B	0.10296	0.003	B	0.04013	0.001	T	0.17319	-1.0373	10	0.56958	D	0.05	.	7.9352	0.29925	0.0:0.731:0.1611:0.1079	.	276	Q7L8C5	SYT13_HUMAN	K	276	ENSP00000020926:E276K	ENSP00000020926:E276K	E	-	1	0	SYT13	45230568	0.998000	0.40836	0.875000	0.34327	0.930000	0.56654	4.105000	0.57797	1.315000	0.45114	0.561000	0.74099	GAG		0.632	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		T	45273992	C	T	45273992	3	4	74	1	0	0	0	0	1	0	0	0	15466	893	31	2	466	2	SYT13	11	45273992	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08		45273992	89732524	15	4950											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45927211	45927211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctaggagagcattccAgcagttctacaagcagtttg	10	11	11	9	0	2	1	0	0	2	1	3	2	3	1	1	2	4	6	1	2	3	6			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45927211A>G	ENST00000241014.2	+	12	2245	c.2075A>G	c.(2074-2076)cAg>cGg	p.Q692R	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Q682R|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	692	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGCATTCCAGCAGTTCTAC	0.597																																						uc001nbr.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(2074-2076)cAg>cGg		Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.							219	201	207					11																	45927211		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45927211A>G		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.2075A>G	11.37:g.45927211A>G	ENSP00000241014:p.Gln692Arg						p.Q692R	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	11	2400	+			692			PID.		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.2075A>G	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135258	0.56828	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.14516	2.5;2.5	5.28	4.13	0.48395	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.122178	0.56097	D	0.000024	T	0.17365	0.0417	L	0.54323	1.7	0.58432	D	0.999997	B	0.28128	0.201	B	0.36092	0.217	T	0.02958	-1.1089	10	0.29301	T	0.29	-35.7095	12.3406	0.55091	0.8586:0.1414:0.0:0.0	.	692	Q9UQF2	JIP1_HUMAN	R	692;682	ENSP00000241014:Q692R;ENSP00000378991:Q682R	ENSP00000241014:Q692R	Q	+	2	0	MAPK8IP1	45883787	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	6.107000	0.71517	1.002000	0.39104	0.533000	0.62120	CAG		0.597	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		G	45927211	A	G	45927211	3	3	74	1	0	0	0	0	1	0	0	0	9284	188	7	4	2121	4	MAPK8IP1	11	45927211	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	653219	45927211	89079305	16	4951											
PTPRJ	5795	broad.mit.edu	37	chr11	48185118	48185118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaacttccggtacctcgttCgtgactacatgaagcagagt	10	11	9	11	3	1	3	1	2	0	1	4	3	2	3	2	1	4	3	2	1	4	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:48185118C>T	ENST00000418331.2	+	23	4019	c.3667C>T	c.(3667-3669)Cgt>Tgt	p.R1223C		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1223	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTACCTCGTTCGTGACTACAT	0.517																																						uc001ngp.4																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3667-3669)Cgt>Tgt		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							142	97	112					11																	48185118		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48185118C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3667C>T	11.37:g.48185118C>T	ENSP00000400010:p.Arg1223Cys						p.R1223C	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			22	4022	+			1223			Tyrosine-protein phosphatase.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3667C>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238118	0.79800	.	.	ENSG00000149177	ENST00000418331	D	0.84800	-1.9	5.44	4.45	0.53987	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.	.	.	.	D	0.93609	0.7959	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93733	0.7043	9	0.87932	D	0	.	7.7562	0.28925	0.1737:0.7345:0.0:0.0918	.	1223	Q12913	PTPRJ_HUMAN	C	1223	ENSP00000400010:R1223C	ENSP00000400010:R1223C	R	+	1	0	PTPRJ	48141694	0.953000	0.32496	0.994000	0.49952	0.995000	0.86356	1.472000	0.35376	2.545000	0.85829	0.650000	0.86243	CGT		0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			T	48185118	C	T	48185118	3	4	74	1	0	0	0	0	1	0	0	0	12804	884	31	2	3766	2	PTPRJ	11	48185118	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	2257907	48185118	86821398	17	4952											
ZNF202	7753	broad.mit.edu	37	chr11	123597645	123597645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcctgtgtatatccTccaaactcagatcttcctgc	11	11	6	13	0	2	1	1	0	1	1	5	1	5	1	4	1	3	1	4	1	4	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:123597645T>C	ENST00000529691.1	-	7	1226	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	ZNF202_ENST00000530393.1_Missense_Mutation_p.E336G|ZNF202_ENST00000336139.4_Missense_Mutation_p.E336G			O95125	ZN202_HUMAN	zinc finger protein 202	336					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTGTATATCCTCCAAACTCAG	0.453																																						uc001pzd.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1006-1008)gAg>gGg		Homo sapiens zinc finger protein 202 (ZNF202), mRNA.							138	162	154					11																	123597645		2198	4279	6477	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597645T>C	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1007A>G	11.37:g.123597645T>C	ENSP00000433881:p.Glu336Gly					ZNF202_uc001pzc.1_Missense_Mutation_p.E112G|ZNF202_uc001pze.1_Missense_Mutation_p.E336G|ZNF202_uc001pzf.1_Missense_Mutation_p.E336G	p.E336G	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1407	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	336					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1007A>G	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	7.805	0.714427	0.15306	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.07444	3.19;3.19;3.19	4.02	4.02	0.46733	.	0.138072	0.33023	N	0.005363	T	0.13200	0.0320	N	0.22421	0.69	0.32283	N	0.56734	D	0.71674	0.998	D	0.78314	0.991	T	0.08617	-1.0713	10	0.23891	T	0.37	-16.5161	9.5055	0.39044	0.0:0.0:0.0:1.0	.	336	O95125	ZN202_HUMAN	G	336	ENSP00000337724:E336G;ENSP00000432504:E336G;ENSP00000433881:E336G	ENSP00000337724:E336G	E	-	2	0	ZNF202	123102855	0.838000	0.29461	0.641000	0.29422	0.348000	0.29142	3.903000	0.56318	1.806000	0.52798	0.533000	0.62120	GAG		0.453	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		C	123597645	T	C	123597645	3	2	74	1	0	0	0	0	1	0	0	0	17760	1551	54	4	943	4	ZNF202	11	123597645	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	75412527	123597645	11408871	18	4953											
B3GAT1	27087	broad.mit.edu	37	chr11	134253884	134253884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgtgttggccatgCgcgtcagctcggccttctgc	4	9	14	14	4	2	0	1	0	1	0	3	0	2	0	2	2	5	4	2	2	0	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:134253884C>T	ENST00000524765.1	-	3	4855	c.311G>A	c.(310-312)cGc>cAc	p.R104H	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R104H|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R117H|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R104H|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	104					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTTGGCCATGCGCGTCAGCTC	0.716																																						uc001qhq.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(310-312)cGc>cAc		Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.							34	26	29					11																	134253884		2197	4293	6490	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253884C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.311G>A	11.37:g.134253884C>T	ENSP00000433847:p.Arg104His					B3GAT1_uc001qhr.3_Missense_Mutation_p.R104H|B3GAT1_uc010scv.1_Missense_Mutation_p.R117H	p.R104H	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	572	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	104					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.311G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.870475	0.97049	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79305	-0.1858	10	0.87932	D	0	-25.2544	18.702	0.91623	0.0:1.0:0.0:0.0	.	117;104	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	H	104;104;104;117	ENSP00000376359:R104H;ENSP00000307875:R104H;ENSP00000433847:R104H;ENSP00000445983:R117H	ENSP00000307875:R104H	R	-	2	0	B3GAT1	133759094	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.799000	0.85936	2.420000	0.82092	0.561000	0.74099	CGC		0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		T	134253884	C	T	134253884	3	4	74	1	0	0	0	0	1	0	0	0	1253	768	27	1	705	1	B3GAT1	11	134253884	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	10656239	134253884	752632	19	4954											
PDZRN4	29951	broad.mit.edu	37	chr12	41967365	41967365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtggcatgaccacagaCgatgacaccatgagcgagat	13	5	13	10	3	0	5	0	3	0	2	0	8	0	6	2	2	1	1	2	2	0	0	rs377624610		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:41967365C>T	ENST00000402685.2	+	10	2792	c.2784C>T	c.(2782-2784)gaC>gaT	p.D928D	PDZRN4_ENST00000298919.7_Silent_p.D668D|PDZRN4_ENST00000539469.2_Silent_p.D670D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	928							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGACCACAGACGATGACACCA	0.562																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2782-2784)gaC>gaT		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	94	87	90		2784,2010	-3.4	0.6	12		90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PDZRN4	NM_001164595.1,NM_013377.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	928/1037,670/779	41967365	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967365C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2784C>T	12.37:g.41967365C>T						PDZRN4_uc001rmq.4_Silent_p.D670D|PDZRN4_uc009zjz.3_Silent_p.D668D|PDZRN4_uc001rmr.3_Silent_p.D555D	p.D928D	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN			9	2792	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	928					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.2784C>T	CCDS53777.1																																																																																				0.562	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		T	41967365	C	T	41967365	2	4	74	1	0	0	0	0	0	0	0	1	11710	535	19	1		1	PDZRN4	12	41967365	Silent	SNP	C	TCGA-06-1806-01A-02D-1845-08		41967365	91884530	20	4955											
LRRIQ1	84125	broad.mit.edu	37	chr12	85459127	85459127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttctatcccttcgaCgctgtggattaacttctttg	6	18	7	10	2	3	0	1	0	2	0	5	2	4	1	1	1	1	2	1	1	2	7			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:85459127C>T	ENST00000393217.2	+	9	2540	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	827										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCCCTTCGACGCTGTGGATT	0.393																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2479-2481)Cgc>Tgc		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							133	126	128					12																	85459127		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85459127C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2479C>T	12.37:g.85459127C>T	ENSP00000376910:p.Arg827Cys					LRRIQ1_uc021rbo.1_Missense_Mutation_p.R705C	p.R827C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2590	+			827					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2479C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373908	0.61624	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.10005	2.92	5.6	4.71	0.59529	.	0.317510	0.29239	N	0.012726	T	0.14917	0.0360	M	0.75777	2.31	0.40083	D	0.976155	B;B	0.30727	0.16;0.292	B;B	0.26614	0.019;0.071	T	0.02232	-1.1191	10	0.40728	T	0.16	.	12.7611	0.57365	0.0:0.924:0.0:0.076	.	827;802	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	827;802;827	ENSP00000376910:R827C	ENSP00000256007:R827C	R	+	1	0	LRRIQ1	83983258	0.985000	0.35326	0.826000	0.32828	0.477000	0.33069	2.742000	0.47434	1.377000	0.46286	0.585000	0.79938	CGC		0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85459127	C	T	85459127	3	4	74	1	0	0	0	0	1	0	0	0	9029	536	19	1	2509	1	LRRIQ1	12	85459127	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	43491762	85459127	48392768	21	4956											
LUM	4060	broad.mit.edu	37	chr12	91502172	91502172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaaggcagtctggctatCtgattgaagctcaagtcaag	12	9	11	9	0	4	3	2	2	2	1	4	3	4	3	1	2	1	3	1	2	5	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:91502172C>G	ENST00000266718.4	-	2	1039	c.585G>C	c.(583-585)caG>caC	p.Q195H	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	195					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTCTGGCTATCTGATTGAAGC	0.428																																						uc001tbm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(583-585)caG>caC		Homo sapiens lumican (LUM), mRNA.							144	139	141					12																	91502172		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502172C>G	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.585G>C	12.37:g.91502172C>G	ENSP00000266718:p.Gln195His						p.Q195H	NM_002345	NP_002336	P51884	LUM_HUMAN			1	974	-			195					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.585G>C	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186396	0.38609	.	.	ENSG00000139329	ENST00000266718	T	0.57436	0.4	5.6	1.63	0.23807	.	0.111093	0.64402	D	0.000011	T	0.35508	0.0934	L	0.41492	1.28	0.43608	D	0.995973	B	0.19583	0.037	B	0.24701	0.055	T	0.06162	-1.0842	10	0.18710	T	0.47	-18.3371	3.7255	0.08473	0.0:0.417:0.1899:0.3931	.	195	P51884	LUM_HUMAN	H	195	ENSP00000266718:Q195H	ENSP00000266718:Q195H	Q	-	3	2	LUM	90026303	0.988000	0.35896	0.991000	0.47740	0.948000	0.59901	1.366000	0.34193	0.692000	0.31613	0.557000	0.71058	CAG		0.428	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		G	91502172	C	G	91502172	3	3	74	1	0	0	0	0	1	0	0	0	9085	912	32	5	439	5	LUM	12	91502172	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	6043045	91502172	42349723	22	4957											
AKAP13	11214	broad.mit.edu	37	chr15	86286791	86286791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgaggagcccccctcGccatctgcaccttccatagc	7	8	8	18	1	1	1	0	1	1	0	4	2	3	2	7	1	3	1	7	1	1	2	rs373781999		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr15:86286791G>A	ENST00000394518.2	+	36	8222	c.8127G>A	c.(8125-8127)tcG>tcA	p.S2709S	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Silent_p.S954S|AKAP13_ENST00000361243.2_Silent_p.S2713S|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2709	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S2713S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCCCCCCTCGCCATCTGCAC	0.502													G|||	1	0.000199681	0	0	5008	,	,		17742	0		0	False		,,,				2504	0.001				Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - coding silent(1)	p.S2713S(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8125-8127)tcG>tcA		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.							117	125	123					15																	86286791		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86286791G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8127G>A	15.37:g.86286791G>A						AKAP13_uc002blu.1_Silent_p.S2713S|AKAP13_uc002blw.1_Silent_p.S1174S|AKAP13_uc002blx.1_Silent_p.S954S	p.S2709S	NM_007200	NP_009131	Q12802	AKP13_HUMAN			35	8297	+			2709			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.8127G>A	CCDS32319.1																																																																																				0.502	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86286791	G	A	86286791	2	1	74	1	0	0	0	0	0	0	0	1	449	1074	38	1		1	AKAP13	15	86286791	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		86286791	16244601	23	4958											
MLST8	64223	broad.mit.edu	37	chr16	2256651	2256651	+	Frame_Shift_Del	DEL	G	G	-																															ggactgcacagccaggatctGggacctcaggtgcggtgggg																										TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr16:2256651delG	ENST00000569417.1	+	4	689	c.335delG	c.(334-336)tggfs	p.W112fs	MLST8_ENST00000382450.4_Frame_Shift_Del_p.W111fs|MLST8_ENST00000397124.1_Frame_Shift_Del_p.W112fs|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Frame_Shift_Del_p.W131fs|MLST8_ENST00000565250.1_Frame_Shift_Del_p.W112fs|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Frame_Shift_Del_p.W112fs|MLST8_ENST00000564088.1_Frame_Shift_Del_p.W112fs	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	112					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GCCAGGATCTGGGACCTCAGG	0.642																																						uc002coy.3																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(334-336)tggfs		Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.							69	74	72					16																	2256651		1954	4136	6090	SO:0001589	frameshift_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256651delG		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.335delG	16.37:g.2256651delG	ENSP00000456405:p.Trp112fs					MLST8_uc002cpc.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvx.2_Frame_Shift_Del_p.W46fs|MLST8_uc002cpd.3_Frame_Shift_Del_p.W46fs|MLST8_uc002cpb.3_Frame_Shift_Del_p.W111fs|MLST8_uc002coz.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cpe.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvy.2_Frame_Shift_Del_p.W112fs|MLST8_uc002cpf.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cph.3_Non-coding_Transcript	p.W112fs	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			3	726	+			112					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Frame_Shift_Del	DEL	ENST00000569417.1	37	c.335delG	CCDS10462.2																																																																																				0.642	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		-	2256651	G	-	2256651	7	5	74	1	0	1	0	1	0	0	0	0	9634	1357	47	0	345	0	MLST8	16	2256651	Frame_Shift_Del	DEL	G	TCGA-06-1806-01A-02D-1845-08		2256651	88098102	24	4959											
ATP9B	374868	broad.mit.edu	37	chr18	77133909	77133909	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcaggcggcatcctcAtgtatggggccctggtgctc	4	13	13	11	1	2	0	2	0	0	0	4	0	3	0	2	5	1	4	2	5	1	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr18:77133909A>T	ENST00000426216.2	+	28	3099	c.3082A>T	c.(3082-3084)Atg>Ttg	p.M1028L	ATP9B_ENST00000543761.1_Missense_Mutation_p.M349L|ATP9B_ENST00000307671.7_Missense_Mutation_p.M1028L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1028					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGGCATCCTCATGTATGGGGC	0.567																																						uc002lmx.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(3082-3084)Atg>Ttg		Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.							119	94	103					18																	77133909		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77133909A>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3082A>T	18.37:g.77133909A>T	ENSP00000398076:p.Met1028Leu					ATP9B_uc002lmw.1_Missense_Mutation_p.M1028L|ATP9B_uc002lna.3_Missense_Mutation_p.M54L|ATP9B_uc002lnb.1_Missense_Mutation_p.H126L|ATP9B_uc010drb.3_Non-coding_Transcript	p.M1028L	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	27	3096	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	1028					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.3082A>T	CCDS12014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.61|17.61	3.433244|3.433244	0.62844|0.62844	.|.	.|.	ENSG00000166377|ENSG00000166377	ENST00000359184|ENST00000426216;ENST00000307671;ENST00000543761	.|T;T;T	.|0.74421	.|-0.84;-0.84;-0.84	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	P|P;P	0.41265|0.40066	0.744|0.701;0.685	B|B;B	0.41510|0.42282	0.359|0.213;0.382	T|T	0.75800|0.75800	-0.3190|-0.3190	7|10	.|0.42905	.|T	.|0.14	.|.	14.8251|14.8251	0.70104|0.70104	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	379|1028;1028	B3KSI8|O43861;O43861-2	.|ATP9B_HUMAN;.	L|L	126|1028;1028;349	.|ENSP00000398076:M1028L;ENSP00000304500:M1028L;ENSP00000442015:M349L	.|ENSP00000304500:M1028L	H|M	+|+	2|1	0|0	ATP9B|ATP9B	75234897|75234897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.601000|0.601000	0.36947|0.36947	8.822000|8.822000	0.92013|0.92013	1.957000|1.957000	0.56846|0.56846	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.567	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		T	77133909	A	T	77133909	3	4	74	1	0	0	0	0	1	0	0	0	1199	217	8	5	3192	5	ATP9B	18	77133909	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08		77133909	943339	25	4960											
DOT1L	84444	broad.mit.edu	37	chr19	2216705	2216705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaagattgtgctgaggcgGcacctgagccaggaccacac	10	5	13	13	1	0	3	0	2	0	1	0	4	0	4	4	3	2	2	4	3	1	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:2216705G>A	ENST00000398665.3	+	20	2385	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	783					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGAGGCGGCACCTGAGCC	0.687																																						uc002lvc.1																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(229-231)cgG>cgA		Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.							27	32	30					19																	2216705		2073	4186	6259	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216705G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2349G>A	19.37:g.2216705G>A						DOT1L_uc002lvb.4_Silent_p.R783R|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.R77R	p.R77R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	998	+		Hepatocellular(1079;0.137)	783					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.231G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295270	0.23564	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.21	-7.56	0.01322	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42949	-0.9421	4	.	.	.	-19.0947	2.0783	0.03629	0.1805:0.2899:0.3392:0.1903	.	.	.	.	D	570	.	.	G	+	2	0	DOT1L	2167705	0.583000	0.26757	0.054000	0.19295	0.815000	0.46073	-0.223000	0.09177	-1.040000	0.03271	0.655000	0.94253	GGC		0.687	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2216705	G	A	2216705	2	1	74	1	0	0	0	0	0	0	0	1	4709	1190	42	3		3	DOT1L	19	2216705	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		2216705	56912278	26	4961											
FUT5	2527	broad.mit.edu	37	chr19	5867010	5867010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccatcatggtccccttggGcaggggcttgtgggagcgtc	4	10	15	12	1	1	0	1	0	0	0	4	1	3	1	3	5	1	2	3	5	0	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:5867010G>C	ENST00000588525.1	-	2	814	c.727C>G	c.(727-729)Ccc>Gcc	p.P243A	FUT5_ENST00000252675.5_Missense_Mutation_p.P243A	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	243					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTCCCCTTGGGCAGGGGCTTG	0.602																																						uc002mdo.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(727-729)Ccc>Gcc		Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.							61	63	62					19																	5867010		2201	4295	6496	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867010G>C		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.727C>G	19.37:g.5867010G>C	ENSP00000466880:p.Pro243Ala					FUT5_uc010duo.3_Missense_Mutation_p.P243A|FUT5_uc021uno.1_Missense_Mutation_p.P243A	p.P243A	NM_002034	NP_002025	Q11128	FUT5_HUMAN			1	898	-			243					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.727C>G	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472472	0.26423	.	.	ENSG00000130383	ENST00000252675	T	0.29917	1.55	2.13	1.07	0.20283	.	0.132698	0.34314	U	0.004066	T	0.39200	0.1069	M	0.73430	2.235	0.09310	N	1	P	0.45902	0.868	P	0.56648	0.803	T	0.10706	-1.0618	10	0.30078	T	0.28	.	2.3471	0.04274	0.1847:0.0:0.5136:0.3017	.	243	Q11128	FUT5_HUMAN	A	243	ENSP00000252675:P243A	ENSP00000252675:P243A	P	-	1	0	FUT5	5818010	0.000000	0.05858	0.107000	0.21349	0.027000	0.11550	-0.782000	0.04643	1.206000	0.43276	0.400000	0.26472	CCC		0.602	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		C	5867010	G	C	5867010	3	2	74	1	0	0	0	0	1	0	0	0	6107	1203	42	5	401	5	FUT5	19	5867010	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08	3650305	5867010	53261973	27	4962											
NOSIP	51070	broad.mit.edu	37	chr19	50059597	50059597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcacgatgatgtcgcGgtctgtgagtttgtctccag	6	12	13	10	3	2	2	0	2	2	0	4	3	2	2	1	1	2	3	1	1	0	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:50059597G>A	ENST00000596358.1	-	8	869	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	NOSIP_ENST00000391853.3_Missense_Mutation_p.R271C|NOSIP_ENST00000339093.3_Missense_Mutation_p.R274C	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	271					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ATGATGTCGCGGTCTGTGAGT	0.632																																						uc002pok.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(811-813)Cgc>Tgc		Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.							115	89	98					19																	50059597		2203	4300	6503	SO:0001583	missense	51070				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50059597G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.811C>T	19.37:g.50059597G>A	ENSP00000470034:p.Arg271Cys					NOSIP_uc002pol.3_Missense_Mutation_p.R271C	p.R271C	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	8	963	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	271					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.811C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380677	0.82792	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	D	0.86297	-2.1	5.37	4.31	0.51392	Zinc finger, RING/FYVE/PHD-type (1);	0.301038	0.32769	N	0.005670	D	0.88134	0.6355	L	0.49126	1.545	0.53005	D	0.999964	D	0.67145	0.996	P	0.56278	0.795	D	0.87992	0.2750	10	0.59425	D	0.04	-27.9917	10.3791	0.44101	0.0:0.0:0.619:0.381	.	271	Q9Y314	NOSIP_HUMAN	C	271	ENSP00000375726:R271C	ENSP00000343497:R271C	R	-	1	0	NOSIP	54751409	1.000000	0.71417	0.908000	0.35775	0.498000	0.33706	4.685000	0.61693	2.527000	0.85204	0.462000	0.41574	CGC		0.632	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			A	50059597	G	A	50059597	3	1	74	1	0	0	0	0	1	0	0	0	10545	1116	39	2	102	2	NOSIP	19	50059597	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08	44192587	50059597	9069386	28	4963											
ADAM33	80332	broad.mit.edu	37	chr20	3652076	3652076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctcaccccgtggctgTggcaggcagtcaggcagcgc	5	6	16	14	2	2	0	2	0	1	0	3	0	2	0	2	5	1	5	2	5	0	0			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:3652076T>C	ENST00000356518.2	-	17	2214	c.1973A>G	c.(1972-1974)cAc>cGc	p.H658R	ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.H658R|ADAM33_ENST00000350009.2_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	658	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCGTGGCTGTGGCAGGCAGT	0.612																																						uc002wit.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1972-1974)cAc>cGc		Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.							72	73	73					20																	3652076		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652076T>C	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1973A>G	20.37:g.3652076T>C	ENSP00000348912:p.His658Arg					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.H658R|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	p.H658R	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			16	2060	-			658			EGF-like.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1973A>G	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696963	0.48202	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000439201	T;T	0.78816	-1.21;-1.21	5.46	5.46	0.80206	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81866	0.4913	M	0.70108	2.13	0.80722	D	1	P;P	0.51653	0.947;0.947	P;P	0.49752	0.621;0.599	D	0.84490	0.0610	9	0.72032	D	0.01	.	14.3521	0.66711	0.0:0.0:0.0:1.0	.	658;658	Q9BZ11;A2A2L3	ADA33_HUMAN;.	R	658;658;538	ENSP00000348912:H658R;ENSP00000369190:H658R	ENSP00000348912:H658R	H	-	2	0	ADAM33	3600076	1.000000	0.71417	0.907000	0.35723	0.008000	0.06430	3.655000	0.54460	2.069000	0.61940	0.459000	0.35465	CAC		0.612	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		C	3652076	T	C	3652076	3	2	74	1	0	0	0	0	1	0	0	0	250	1696	59	4	492	4	ADAM33	20	3652076	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		3652076	59373444	29	4964											
CSRP2BP	57325	broad.mit.edu	37	chr20	18165284	18165284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagtacccagacttcAgtgttgttgttctttataaa	9	16	8	8	0	3	1	1	0	2	1	3	1	3	1	1	0	2	5	1	0	4	8			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:18165284A>C	ENST00000435364.3	+	9	2364	c.2023A>C	c.(2023-2025)Agt>Cgt	p.S675R	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S547R|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S674R	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	675	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCAGACTTCAGTGTTGTTGT	0.408																																						uc021wbb.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(2023-2025)Agt>Cgt		Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.							218	192	201					20																	18165284		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18165284A>C	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2023A>C	20.37:g.18165284A>C	ENSP00000392318:p.Ser675Arg					CSRP2BP_uc002wqk.3_Missense_Mutation_p.S547R|CSRP2BP_uc010zru.2_Missense_Mutation_p.S546R	p.S675R	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			8	2460	+			675			N-acetyltransferase.		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.2023A>C	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.910042	0.92107	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.84	5.84	0.93424	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.078523	0.85682	D	0.000000	T	0.69780	0.3149	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.75892	-0.3157	10	0.87932	D	0	-6.386	16.2167	0.82231	1.0:0.0:0.0:0.0	.	547;675	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	R	675;674;675;547	ENSP00000278816:S675R;ENSP00000366909:S674R;ENSP00000392318:S675R;ENSP00000425909:S547R	ENSP00000278816:S675R	S	+	1	0	CSRP2BP	18113284	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.228000	0.95250	2.231000	0.72958	0.533000	0.62120	AGT		0.408	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		C	18165284	A	C	18165284	3	2	74	1	0	0	0	0	1	0	0	0	3968	188	7	5	2057	5	CSRP2BP	20	18165284	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	14513208	18165284	44860236	30	4965											
SEMG2	6407	broad.mit.edu	37	chr20	43851863	43851863	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaagtctggtcaatcTgcagatagcaaacaagacct	17	7	9	8	0	3	2	1	0	2	2	3	3	3	3	1	2	3	2	1	2	6	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:43851863T>A	ENST00000372769.3	+	2	1680	c.1590T>A	c.(1588-1590)tcT>tcA	p.S530S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	530	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTGGTCAATCTGCAGATAGCA	0.388																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1588-1590)tcT>tcA		Homo sapiens semenogelin II (SEMG2), mRNA.							96	82	87					20																	43851863		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851863T>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1590T>A	20.37:g.43851863T>A						SEMG2_uc002xnk.3_Silent_p.S530S|SEMG2_uc002xnl.3_Silent_p.S410S	p.S530S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			1	1647	+		Myeloproliferative disorder(115;0.0122)	530			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.1590T>A	CCDS13346.1																																																																																				0.388	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43851863	T	A	43851863	2	1	74	1	0	0	0	0	0	0	0	1	14045	1567	55	5		5	SEMG2	20	43851863	Silent	SNP	T	TCGA-06-1806-01A-02D-1845-08	25686579	43851863	19173657	31	4966											
ARFGAP1	55738	broad.mit.edu	37	chr20	61910293	61910293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgggaacacgccaccGcctcagaagaaagaagatga	14	5	13	9	2	1	5	1	1	0	4	1	6	1	6	3	2	1	1	3	2	4	1	rs143521520	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:61910293G>A	ENST00000370283.4	+	7	713	c.573G>A	c.(571-573)ccG>ccA	p.P191P	ARFGAP1_ENST00000519604.1_Silent_p.P138P|ARFGAP1_ENST00000353546.3_Silent_p.P191P|ARFGAP1_ENST00000519273.2_Silent_p.P78P|ARFGAP1_ENST00000547204.1_Silent_p.P117P|ARFGAP1_ENST00000370275.4_Silent_p.P191P	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	191					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					ACACGCCACCGCCTCAGAAGA	0.597													G|||	18	0.00359425	0.0136	0	5008	,	,		18056	0		0	False		,,,				2504	0					uc002yem.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(571-573)ccG>ccA		Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.		G	,	51,4355	52.3+/-87.9	0,51,2152	146	123	131		573,573	-10.4	0	20	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous	ARFGAP1	NM_018209.2,NM_175609.1	,	0,52,6451	AA,AG,GG		0.0116,1.1575,0.3998	,	191/407,191/415	61910293	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61910293G>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.573G>A	20.37:g.61910293G>A						ARFGAP1_uc011aas.1_Silent_p.P138P|ARFGAP1_uc011aat.1_Silent_p.P78P|ARFGAP1_uc002yel.3_Silent_p.P191P|ARFGAP1_uc002yen.3_Silent_p.P191P	p.P191P	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			6	685	+	all_cancers(38;1.59e-09)		191					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	c.573G>A	CCDS13515.1																																																																																				0.597	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		A	61910293	G	A	61910293	2	1	74	1	0	0	0	0	0	0	0	1	849	1074	38	1		1	ARFGAP1	20	61910293	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08	18058430	61910293	1115227	32	4967											
IFNGR2	3460	broad.mit.edu	37	chr21	34809223	34809223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactctgtgtccattaTctcgtttccggaaaaggagc	8	12	11	10	2	2	0	0	0	2	0	5	3	4	3	2	3	1	1	2	3	3	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr21:34809223T>C	ENST00000290219.6	+	7	1616	c.968T>C	c.(967-969)aTc>aCc	p.I323T	IFNGR2_ENST00000381995.1_Missense_Mutation_p.I342T|IFNGR2_ENST00000405436.1_Missense_Mutation_p.I244T|TMEM50B_ENST00000468874.2_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	323					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GTGTCCATTATCTCGTTTCCG	0.502																																						uc002yrp.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(967-969)aTc>aCc		Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	Interferon gamma-1b(DB00033)						118	99	105					21																	34809223		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34809223T>C		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.968T>C	21.37:g.34809223T>C	ENSP00000290219:p.Ile323Thr					TMEM50B_uc002yrs.2_Intron	p.I323T	NM_005534	NP_005525	P38484	INGR2_HUMAN			6	1616	+			323					Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.968T>C	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595479	0.46318	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.75050	0.26;0.19;-0.9	4.79	4.79	0.61399	.	0.815631	0.10478	N	0.669990	T	0.65101	0.2659	L	0.38175	1.15	0.40883	D	0.984018	P;P	0.44734	0.842;0.842	B;B	0.37731	0.185;0.257	T	0.67252	-0.5717	10	0.72032	D	0.01	-10.5039	10.894	0.47012	0.0:0.0:0.0:1.0	.	342;323	E7EUY1;P38484	.;INGR2_HUMAN	T	323;342;244	ENSP00000290219:I323T;ENSP00000371425:I342T;ENSP00000385044:I244T	ENSP00000290219:I323T	I	+	2	0	IFNGR2	33731093	0.022000	0.18835	0.003000	0.11579	0.222000	0.24845	3.264000	0.51553	2.138000	0.66242	0.460000	0.39030	ATC		0.502	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			C	34809223	T	C	34809223	3	2	74	1	0	0	0	0	1	0	0	0	7550	1435	50	4	994	4	IFNGR2	21	34809223	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		34809223	13320672	33	4968											
SRRD	402055	broad.mit.edu	37	chr22	26887547	26887547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacagctctccatagataTttgggagtttcgggaagaac	13	10	11	7	1	1	3	0	0	1	3	3	5	1	5	1	2	3	2	1	2	5	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr22:26887547T>C	ENST00000215917.7	+	7	943	c.929T>C	c.(928-930)aTt>aCt	p.I310T	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	310					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCATAGATATTTGGGAGTTT	0.433																																						uc010gve.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(928-930)aTt>aCt		Homo sapiens SRR1 domain containing (SRRD), mRNA.							89	84	86					22																	26887547		1852	4106	5958	SO:0001583	missense	402055				rhythmic process			g.chr22:26887547T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.929T>C	22.37:g.26887547T>C	ENSP00000215917:p.Ile310Thr					SRRD_uc003acp.4_Missense_Mutation_p.I303T	p.I310T	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN			6	936	+			310					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.929T>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650909	0.03506	.	.	ENSG00000100104	ENST00000215917	T	0.45276	0.9	5.37	-2.84	0.05751	.	1.010810	0.07924	N	0.976386	T	0.10508	0.0257	N	0.00170	-1.935	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.35500	-0.9786	10	0.21014	T	0.42	0.1243	11.5392	0.50657	0.0:0.3403:0.0:0.6597	.	310;303	Q9UH36;B4DF37	SRR1L_HUMAN;.	T	310	ENSP00000215917:I310T	ENSP00000215917:I310T	I	+	2	0	SRRD	25217547	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.156000	0.16382	-0.486000	0.06744	-1.007000	0.02485	ATT		0.433	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		C	26887547	T	C	26887547	3	2	74	1	0	0	0	0	1	0	0	0	15166	1493	52	4	955	4	SRRD	22	26887547	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		26887547	24417019	34	4969											
NHS	4810	broad.mit.edu	37	chrX	17745854	17745854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcttctgcagttgagAtgggaccagataaactacat	13	11	9	8	0	2	3	0	1	2	3	2	5	2	4	1	1	3	2	1	1	4	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:17745854A>G	ENST00000380060.3	+	6	3903	c.3565A>G	c.(3565-3567)Atg>Gtg	p.M1189V	NHS_ENST00000398097.3_Missense_Mutation_p.M1033V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1210					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGCAGTTGAGATGGGACCAGA	0.398																																						uc011mix.2																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3628-3630)Atg>Gtg		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							95	92	93					X																	17745854		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745854A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3565A>G	X.37:g.17745854A>G	ENSP00000369400:p.Met1189Val					NHS_uc004cxx.3_Missense_Mutation_p.M1189V|NHS_uc004cxy.3_Missense_Mutation_p.M1033V|NHS_uc004cxz.3_Missense_Mutation_p.M1012V|NHS_uc004cya.3_Missense_Mutation_p.M912V	p.M1210V	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN			6	3966	+	Hepatocellular(33;0.183)		1189					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3628A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	0.072	-1.201287	0.01581	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.41065	1.01;1.02	5.79	1.81	0.25067	.	0.834973	0.11451	N	0.562788	T	0.27697	0.0681	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.27297	-1.0078	10	0.16420	T	0.52	-0.4352	5.4581	0.16602	0.6684:0.0:0.211:0.1206	.	1210;1031;1033;1189	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	V	1189;1033;1031	ENSP00000369400:M1189V;ENSP00000381170:M1033V	ENSP00000369397:M1031V	M	+	1	0	NHS	17655775	0.131000	0.22433	0.337000	0.25536	0.032000	0.12392	0.561000	0.23515	0.286000	0.22352	-0.443000	0.05667	ATG		0.398	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		G	17745854	A	G	17745854	3	3	74	1	0	0	0	0	1	0	0	0	10411	333	12	4	3692	4	NHS	23	17745854	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08		17745854	137524706	35	4970											
PGAM4	441531	broad.mit.edu	37	chrX	77224407	77224407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgggcagccacagcttcTatggctttgcacaccgtctc	6	10	9	16	1	2	0	0	0	2	0	3	0	2	0	3	2	3	4	3	2	1	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:77224407T>C	ENST00000458128.1	-	1	728	c.729A>G	c.(727-729)atA>atG	p.I243M	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	243					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CCACAGCTTCTATGGCTTTGC	0.567																																						uc004ecy.1																			0				endometrium(2)|lung(4)	6						c.(727-729)atA>atG		Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.							55	51	52					X																	77224407		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224407T>C	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.729A>G	X.37:g.77224407T>C	ENSP00000412189:p.Ile243Met					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	p.I243M	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			0	729	-			243					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.729A>G	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.290698	0.01387	.	.	ENSG00000226784	ENST00000458128	T	0.80653	-1.4	0.119	0.119	0.14685	.	0.047783	0.85682	N	0.000000	T	0.48169	0.1485	N	0.01751	-0.74	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	9	.	.	.	-14.4349	4.5722	0.12216	0.0:0.6892:0.0:0.3108	.	243	Q8N0Y7	PGAM4_HUMAN	M	243	ENSP00000412189:I243M	.	I	-	3	3	PGAM4	77111063	1.000000	0.71417	0.196000	0.23383	0.200000	0.23975	3.665000	0.54532	-1.289000	0.02375	-1.288000	0.01363	ATA		0.567	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		C	77224407	T	C	77224407	3	2	74	1	0	0	0	0	1	0	0	0	11775	1512	53	4	39	4	PGAM4	23	77224407	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	59478553	77224407	78046153	36	4971											
ATP13A2	23400	broad.mit.edu	37	chr1	17314833	17314833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgatgaccatgggcaCgcactcaatactggccatgc	10	9	9	13	1	1	2	1	2	0	0	1	2	1	2	3	2	3	2	3	2	3	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:17314833C>T	ENST00000326735.8	-	24	2779	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	ATP13A2_ENST00000341676.5_Missense_Mutation_p.V872M|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.V911M			Q9NQ11	AT132_HUMAN	ATPase type 13A2	916					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCATGGGCACGCACTCAATA	0.642																																						uc001baa.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2746-2748)Gtg>Atg		Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.							139	132	135					1																	17314833		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17314833C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2746G>A	1.37:g.17314833C>T	ENSP00000327214:p.Val916Met					ATP13A2_uc001bac.2_Missense_Mutation_p.V872M|ATP13A2_uc001bab.2_Missense_Mutation_p.V911M	p.V916M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	23	2936	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	916					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2746G>A	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799676	0.70567	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	T;T;T;D	0.96774	0.05;0.05;0.05;-4.12	4.74	4.74	0.60224	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.67953	2.075	0.54753	D	0.999987	D;D;D	0.89917	0.994;1.0;0.989	P;P;P	0.59761	0.685;0.863;0.696	D	0.97117	0.9808	10	0.54805	T	0.06	-23.0228	15.2494	0.73532	0.0:1.0:0.0:0.0	.	872;911;916	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	M	916;872;911;112	ENSP00000327214:V916M;ENSP00000341115:V872M;ENSP00000413307:V911M;ENSP00000423065:V112M	ENSP00000327214:V916M	V	-	1	0	ATP13A2	17187420	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.679000	0.54634	2.451000	0.82905	0.561000	0.74099	GTG		0.642	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17314833	C	T	17314833	3	4	75	1	0	0	0	0	1	0	0	0	1124	536	19	1	1056	1	ATP13A2	1	17314833	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		17314833	231935788	1	4972											
CNKSR1	10256	broad.mit.edu	37	chr1	26507077	26507077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggagctcatcctgggCggggtggaacagctccaggc	8	5	15	13	1	1	0	1	0	0	0	3	2	3	2	3	6	3	2	3	6	1	0	rs200570653		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:26507077C>T	ENST00000374253.5	+	2	225	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Silent_p.G62G|CNKSR1_ENST00000480348.2_3'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	62	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		17776	0		0	False		,,,				2504	0				NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(184-186)ggC>ggT		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.		C		5,4401	11.4+/-27.6	0,5,2198	46	51	49		186	-3.8	0.2	1		49	0,8600		0,0,4300	no	coding-synonymous	CNKSR1	NM_006314.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		62/714	26507077	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507077C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.186C>T	1.37:g.26507077C>T						CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.G62G	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	244	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	62			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.186C>T																																																																																					0.657	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26507077	C	T	26507077	2	4	75	1	0	0	0	0	0	0	0	1	3606	755	27	1		1	CNKSR1	1	26507077	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	9192244	26507077	222743544	2	4973											
GJB4	127534	broad.mit.edu	37	chr1	35227182	35227182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagcaccacctgaaacaCgggcccaatgccccgtccct	10	4	8	19	3	0	1	0	1	0	0	1	1	1	1	6	1	3	2	6	1	3	0	rs374919180		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:35227182C>T	ENST00000339480.1	+	2	697	c.327C>T	c.(325-327)caC>caT	p.H109H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	109					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCTGAAACACGGGCCCAATG	0.632																																						uc001bxw.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(325-327)caC>caT		Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	93	69	77		327	-0.6	1	1		77	0,8600		0,0,4300	no	coding-synonymous	GJB4	NM_153212.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		109/267	35227182	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227182C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.327C>T	1.37:g.35227182C>T						GJB4_uc001bxv.1_Silent_p.H109H	p.H109H	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			0	327	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	109					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.327C>T	CCDS383.1																																																																																				0.632	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		T	35227182	C	T	35227182	2	4	75	1	0	0	0	0	0	0	0	1	6410	535	19	1		1	GJB4	1	35227182	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	8720105	35227182	214023439	3	4974											
MYSM1	114803	broad.mit.edu	37	chr1	59132729	59132729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtatttagcttgtgtgTcaatatctcgtaaggaagga	10	14	11	6	1	2	0	1	0	1	0	3	2	2	2	1	3	1	3	1	3	6	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:59132729T>C	ENST00000472487.1	-	16	2051	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	671	MPN.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGCTTGTGTGTCAATATCTCG	0.373																																						uc009wab.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2011-2013)gAc>gGc		Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.							78	78	78					1																	59132729		1854	4099	5953	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59132729T>C	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2012A>G	1.37:g.59132729T>C	ENSP00000418734:p.Asp671Gly					MYSM1_uc001cza.3_Missense_Mutation_p.D77G|MYSM1_uc001czc.3_Non-coding_Transcript	p.D671G	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			15	2035	-	all_cancers(7;9.36e-06)		671			MPN.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.2012A>G	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816749	0.70912	.	.	ENSG00000162601	ENST00000472487	T	0.55234	0.53	5.02	5.02	0.67125	.	0.096592	0.64402	D	0.000001	T	0.61850	0.2380	L	0.39020	1.185	0.53688	D	0.999972	D	0.64830	0.994	D	0.66716	0.946	T	0.65298	-0.6202	10	0.72032	D	0.01	-15.7716	14.0747	0.64882	0.0:0.0:0.0:1.0	.	671	Q5VVJ2	MYSM1_HUMAN	G	671	ENSP00000418734:D671G	ENSP00000418734:D671G	D	-	2	0	MYSM1	58905317	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.799000	0.69101	2.111000	0.64477	0.460000	0.39030	GAC		0.373	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		C	59132729	T	C	59132729	3	2	75	1	0	0	0	0	1	0	0	0	10101	1667	58	4	494	4	MYSM1	1	59132729	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	23905547	59132729	190117892	4	4975											
LRRC7	57554	broad.mit.edu	37	chr1	70505050	70505050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccaactgataggtaCggcagacccccatatagggg	10	6	11	14	1	0	2	0	1	0	1	0	2	0	2	4	4	3	2	4	4	5	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:70505050C>T	ENST00000035383.5	+	19	3459	c.3429C>T	c.(3427-3429)taC>taT	p.Y1143Y	LRRC7_ENST00000310961.5_Silent_p.Y1148Y|LRRC7_ENST00000415775.2_Silent_p.Y427Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1143						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATAGGTACGGCAGACCCC	0.557																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3427-3429)taC>taT		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							64	68	67					1																	70505050		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505050C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3429C>T	1.37:g.70505050C>T						LRRC7_uc009wbg.3_Silent_p.Y427Y|LRRC7_uc001deq.3_Silent_p.Y384Y	p.Y1143Y	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	3459	+			1143					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3429C>T	CCDS645.1																																																																																				0.557	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		T	70505050	C	T	70505050	2	4	75	1	0	0	0	0	0	0	0	1	9020	547	19	1		1	LRRC7	1	70505050	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	11372321	70505050	178745571	5	4976											
TTF2	8458	broad.mit.edu	37	chr1	117603105	117603105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctttcttaagaccggcgtCcgcgatggcccgaataaagg	9	9	12	11	5	1	1	0	0	1	1	2	3	2	1	3	3	1	1	3	3	4	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:117603105C>T	ENST00000369466.4	+	2	101	c.57C>T	c.(55-57)gtC>gtT	p.V19V	RP11-27K13.3_ENST00000445523.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	19					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGACCGGCGTCCGCGATGGCC	0.582																																						uc001egy.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(55-57)gtC>gtT		Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.							117	117	117					1																	117603105		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117603105C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.57C>T	1.37:g.117603105C>T						TTF2_uc001egx.1_Silent_p.V19V	p.V19V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	1	77	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	19					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.57C>T	CCDS892.1																																																																																				0.582	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			T	117603105	C	T	117603105	2	4	75	1	0	0	0	0	0	0	0	1	16716	842	30	3		3	TTF2	1	117603105	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	47098055	117603105	131647516	6	4977											
AQP10	89872	broad.mit.edu	37	chr1	154294516	154294516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttacgatagccatctaCgtgggtggtaacgtctcagg	8	10	13	10	4	2	0	1	0	2	0	3	1	2	0	2	3	4	2	2	3	4	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:154294516C>T	ENST00000324978.3	+	2	253	c.213C>T	c.(211-213)taC>taT	p.Y71Y	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Silent_p.Y71Y	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	71					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCATCTACGTGGGTGGTA	0.557																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(211-213)taC>taT		Homo sapiens aquaporin 10 (AQP10), mRNA.							55	48	50					1																	154294516		2203	4297	6500	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154294516C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.213C>T	1.37:g.154294516C>T							p.Y71Y	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	253	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		71					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.213C>T	CCDS1065.1																																																																																				0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		T	154294516	C	T	154294516	2	4	75	1	0	0	0	0	0	0	0	1	822	547	19	1		1	AQP10	1	154294516	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	36691411	154294516	94956105	7	4978											
PIK3C2B	5287	broad.mit.edu	37	chr1	204410639	204410639	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcacccaggggatccacaTtttggaaggagagtttgagg	10	10	13	8	0	1	2	1	1	1	1	3	5	2	4	2	5	0	1	2	5	1	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:204410639T>G	ENST00000367187.3	-	22	3765	c.3209A>C	c.(3208-3210)aAt>aCt	p.N1070T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1042T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1070					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGATCCACATTTTGGAAGGA	0.527																																						uc001haw.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3208-3210)aAt>aCt		Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.							116	111	113					1																	204410639		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204410639T>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3209A>C	1.37:g.204410639T>G	ENSP00000356155:p.Asn1070Thr					PIK3C2B_uc010pqv.2_Missense_Mutation_p.N1042T	p.N1070T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		21	3688	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1070					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3209A>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678246	0.88542	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.79749	-1.3;-1.3	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	L	0.46819	1.47	0.43977	D	0.996666	D;D	0.69078	0.995;0.997	D;D	0.77004	0.971;0.989	D	0.87747	0.2589	10	0.72032	D	0.01	.	15.6894	0.77439	0.0:0.0:0.0:1.0	.	1042;1070	F5GWN5;O00750	.;P3C2B_HUMAN	T	1070;1042	ENSP00000356155:N1070T;ENSP00000400561:N1042T	ENSP00000356155:N1070T	N	-	2	0	PIK3C2B	202677262	1.000000	0.71417	0.884000	0.34674	0.986000	0.74619	7.996000	0.88334	2.173000	0.68751	0.528000	0.53228	AAT		0.527	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		G	204410639	T	G	204410639	3	3	75	1	0	0	0	0	1	0	0	0	11910	1493	52	5	1747	5	PIK3C2B	1	204410639	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	50116123	204410639	44839982	8	4979											
CHRM3	1131	broad.mit.edu	37	chr1	240071079	240071079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactacttcctcttaagcCtggcctgtgccgatctgatt	8	13	7	13	1	2	1	0	1	2	0	3	2	3	1	4	1	4	0	4	1	3	4	rs111407169		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:240071079C>T	ENST00000255380.4	+	5	1107	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	110					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCTTAAGCCTGGCCTGTGC	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		21244	0		0	False		,,,				2504	0					uc021plc.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(328-330)Ctg>Ttg		Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	C		3,4403	6.2+/-15.9	0,3,2200	112	92	99		328	5.9	1	1	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous	CHRM3	NM_000740.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		110/591	240071079	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071079C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.328C>T	1.37:g.240071079C>T						CHRM3_uc001hyp.3_Silent_p.L110L	p.L110L	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		0	328	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	110					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.328C>T	CCDS1616.1																																																																																				0.478	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		T	240071079	C	T	240071079	2	4	75	1	0	0	0	0	0	0	0	1	3378	680	24	3		3	CHRM3	1	240071079	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	35660440	240071079	9179542	9	4980											
FAM136A	84908	broad.mit.edu	37	chr2	70524463	70524463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctccttcatcttcttggtCatagttgggatgaggtgcat	6	15	11	9	0	4	1	2	1	2	0	5	2	5	2	2	3	1	2	2	3	1	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:70524463C>T	ENST00000037869.3	-	3	453	c.375G>A	c.(373-375)atG>atA	p.M125I	FAM136A_ENST00000430566.1_Missense_Mutation_p.M232I|FAM136A_ENST00000450256.1_3'UTR	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	125						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCTTCTTGGTCATAGTTGGGA	0.433																																						uc002sgq.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(373-375)atG>atA		Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.							126	116	119					2																	70524463		2203	4300	6503	SO:0001583	missense	84908					mitochondrion	protein binding	g.chr2:70524463C>T	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"hypothetical protein FLJ14668"					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.375G>A	2.37:g.70524463C>T	ENSP00000037869:p.Met125Ile					FAM136A_uc010fdp.3_Non-coding_Transcript	p.M125I	NM_032822	NP_116211	Q96C01	F136A_HUMAN			2	452	-			125					Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	c.375G>A	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927328	0.73327	.	.	ENSG00000035141	ENST00000037869;ENST00000430566	.	.	.	4.83	4.83	0.62350	.	0.045110	0.85682	D	0.000000	T	0.60586	0.2280	L	0.54863	1.705	0.53005	D	0.99996	P	0.36110	0.537	B	0.39771	0.309	T	0.57659	-0.7773	9	0.20519	T	0.43	.	16.8534	0.86000	0.0:1.0:0.0:0.0	.	125	Q96C01	F136A_HUMAN	I	125;232	.	ENSP00000037869:M125I	M	-	3	0	FAM136A	70377967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.061000	0.64319	2.361000	0.80049	0.561000	0.74099	ATG		0.433	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		T	70524463	C	T	70524463	3	4	75	1	0	0	0	0	1	0	0	0	5450	826	29	3	45	3	FAM136A	2	70524463	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		70524463	172674910	10	4981											
NAT8B	0	broad.mit.edu	37	chr2	73928290	73928290	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtagggcaagggcccccCcaagtaagagtatgagggtt	11	6	16	8	0	0	2	0	1	0	1	0	3	0	3	3	4	0	5	3	4	5	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:73928290C>T								ALMS1P (15587 upstream) : TPRKB (28666 downstream)																							AAGGGCCCCCCCAAGTAAGAG	0.612																																						uc002sjk.1																			0											c.(139-141)gGg>gAg		Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.							63	72	69					2																	73928290		2202	4300	6502	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73928290C>T																													2.37:g.73928290C>T							p.G47E	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			1	175	-			48						Missense_Mutation	SNP		37	c.140G>A																																																																																				0	0.612									T	73928290	C	T	73928290	1	4	75	0	1	0	0	0	0	0	0	0	10180	623	22	3		3	NAT8B	2	73928290	IGR	SNP	C	TCGA-06-2557-01A-01D-1494-08	3403827	73928290	169271083	11	4982											
CCDC138	165055	broad.mit.edu	37	chr2	109410997	109410997	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttattttctttgcagtTgccttgccaactaatacgac	10	16	6	9	1	1	0	0	0	1	0	1	1	1	0	2	0	5	3	2	0	5	8			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:109410997T>C	ENST00000295124.4	+	5	456	c.396T>C	c.(394-396)gtT>gtC	p.V132V	CCDC138_ENST00000412964.2_Splice_Site_p.V132V|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	132										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCTTTGCAGTTGCCTTGCCAA	0.363																																						uc002ten.1																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e5-1		Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.							71	69	70					2																	109410997		2203	4300	6503	SO:0001630	splice_region_variant	165055							g.chr2:109410997T>C	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.395-1T>C	2.37:g.109410997T>C						CCDC138_uc002teo.1_Splice_Site_p.V132_splice|CCDC138_uc002tep.1_Splice_Site|CCDC138_uc010fjm.1_Splice_Site	p.V132_splice	NM_144978	NP_659415	Q96M89	CC138_HUMAN			5	455	+			132					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.395_splice	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	T	2.824	-0.244201	0.05906	.	.	ENSG00000163006	ENST00000456512	.	.	.	5.76	2.0	0.26442	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.21897	N	0.999482	.	.	.	.	.	.	T	0.21245	-1.0251	4	.	.	.	.	4.5641	0.12175	0.1328:0.2189:0.0:0.6482	.	.	.	.	S	30	.	.	L	+	2	0	CCDC138	108777429	0.001000	0.12720	0.011000	0.14972	0.105000	0.19272	0.492000	0.22435	0.439000	0.26476	0.459000	0.35465	TTG		0.363	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	Silent	C	109410997	T	C	109410997	5	2	75	1	0	0	0	0	0	0	1	0	2772	1826	63	4	414	4	CCDC138	2	109410997	Splice_Site	SNP	T	TCGA-06-2557-01A-01D-1494-08	35482707	109410997	133788376	12	4983											
POTEF	728378	broad.mit.edu	37	chr2	130877735	130877735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtagtctccccaagcGcccaccttgctcttgctgct	5	12	7	17	2	3	0	1	0	2	0	5	0	3	0	4	0	4	4	4	0	2	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:130877735G>A	ENST00000409914.2	-	3	753	c.354C>T	c.(352-354)ggC>ggT	p.G118G	POTEF_ENST00000357462.5_Silent_p.G118G|POTEF_ENST00000360967.5_Silent_p.G118G|POTEF_ENST00000361163.4_Silent_p.G118G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	118					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCCCAAGCGCCCACCTTGC	0.587																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(352-354)ggC>ggT		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							60	80	74					2																	130877735		2202	4298	6500	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130877735G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.354C>T	2.37:g.130877735G>A							p.G118G	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	754	-			118					A6NC34	Silent	SNP	ENST00000409914.2	37	c.354C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130877735	G	A	130877735	2	1	75	1	0	0	0	0	0	0	0	1	12265	1074	38	1		1	POTEF	2	130877735	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	21466738	130877735	112321638	13	4984											
LRP1B	53353	broad.mit.edu	37	chr2	141986959	141986959	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattaagatagaaaacctCaattgtttcaaaatttgcaa	17	13	4	7	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	8	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:141986959C>A	ENST00000389484.3	-	6	1614	c.643G>T	c.(643-645)Gag>Tag	p.E215*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	215					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAAAACCTCAATTGTTTCA	0.284										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(643-645)Gag>Tag		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							36	39	38					2																	141986959		2200	4288	6488	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986959C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.643G>T	2.37:g.141986959C>A	ENSP00000374135:p.Glu215*	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.E215*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1615	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	215					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.643G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	44	10.813416	0.99471	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.87	4.87	0.63330	.	0.191423	0.34223	U	0.004150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.6296	0.88103	0.0:1.0:0.0:0.0	.	.	.	.	X	215;153	.	ENSP00000374135:E215X	E	-	1	0	LRP1B	141703429	1.000000	0.71417	0.991000	0.47740	0.338000	0.28826	2.974000	0.49272	2.265000	0.75225	0.585000	0.79938	GAG		0.284	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141986959	C	A	141986959	4	1	75	1	0	0	0	0	0	1	0	0	8955	835	29	5	13500	5	LRP1B	2	141986959	Nonsense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	11109224	141986959	101212414	14	4985											
PLCL1	5334	broad.mit.edu	37	chr2	198949321	198949321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagacatcataaggagataCgaactttctgaagagggacg	15	9	11	6	2	2	4	1	1	1	3	2	7	2	5	0	2	2	0	0	2	5	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:198949321C>T	ENST00000428675.1	+	2	1478	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	PLCL1_ENST00000437704.2_Silent_p.Y262Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	360					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAAGGAGATACGAACTTTCTG	0.388																																						uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1078-1080)taC>taT		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						108	101	104					2																	198949321		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949321C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1080C>T	2.37:g.198949321C>T						PLCL1_uc002uuv.4_Silent_p.Y281Y	p.Y360Y	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	1478	+			360					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.1080C>T	CCDS2326.2																																																																																				0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198949321	C	T	198949321	2	4	75	1	0	0	0	0	0	0	0	1	12039	547	19	1		1	PLCL1	2	198949321	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	56962362	198949321	44250052	15	4986											
SCN5A	6331	broad.mit.edu	37	chr3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctggactcctcctccGtgcccaggctgttctcctca	3	12	9	17	1	2	0	1	0	1	0	6	1	5	1	5	2	2	4	5	2	0	2	rs199473187		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:38622444G>A	ENST00000333535.4	-	17	3355	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_ENST00000443581.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1069M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1069			T -> M (in LQT3). {ECO:0000269|PubMed:15840476}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCTCCTCCGTGCCCAGGCT	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		17231	0		0	False		,,,				2504	0					uc021wvo.1																			0		p.G1068V(2)|p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM055518	SCN5A	M		c.(3205-3207)aCg>aTg		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						38	39	39					3																	38622444		2153	4254	6407	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622444G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3206C>T	3.37:g.38622444G>A	ENSP00000328968:p.Thr1069Met					SCN5A_uc021wvk.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvl.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvm.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvn.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvp.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvq.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvr.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvs.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvt.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvu.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvv.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvj.1_Missense_Mutation_p.T935M|SCN5A_uc021wvi.1_Missense_Mutation_p.T935M|SCN5A_uc021wvw.1_Missense_Mutation_p.T680M	p.T1069M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	15	3258	-	Medulloblastoma(35;0.163)		1069					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3206C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125569	0.56721	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.12	5.12	0.69794	Sodium ion transport-associated (1);	0.438120	0.20347	N	0.094125	D	0.88005	0.6321	L	0.43923	1.385	0.26130	N	0.980427	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;0.999	D;D;P;D;D;P;P	0.67725	0.953;0.95;0.88;0.91;0.91;0.855;0.855	T	0.82204	-0.0573	10	0.56958	D	0.05	.	18.5908	0.91212	0.0:0.0:1.0:0.0	.	1069;1069;1069;1069;1069;1069;1069	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1069	ENSP00000398962:T1069M;ENSP00000398266:T1069M;ENSP00000410257:T1069M;ENSP00000388797:T1069M;ENSP00000397915:T1069M;ENSP00000416634:T1069M;ENSP00000328968:T1069M;ENSP00000399524:T1069M;ENSP00000403355:T1069M;ENSP00000413996:T1069M	ENSP00000328968:T1069M	T	-	2	0	SCN5A	38597448	0.998000	0.40836	0.062000	0.19696	0.357000	0.29423	6.590000	0.74085	2.395000	0.81488	0.561000	0.74099	ACG		0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38622444	G	A	38622444	3	1	75	1	0	0	0	0	1	0	0	0	13922	1145	40	1	2892	1	SCN5A	3	38622444	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		38622444	159399986	16	4987											
ABI3BP	25890	broad.mit.edu	37	chr3	100645260	100645260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacatttggacttggacGcaagaacttcaagaggatgg	12	11	11	7	1	1	2	1	0	0	2	1	5	1	5	0	4	2	1	0	4	4	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:100645260G>A	ENST00000284322.5	-	2	275	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R56C|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R56C|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	56					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGACTTGGACGCAAGAACTTC	0.448																																						uc003dun.3																			0		p.R56H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(166-168)Cgt>Tgt		Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.							202	197	198					3																	100645260		1976	4148	6124	SO:0001583	missense	25890					extracellular space		g.chr3:100645260G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.166C>T	3.37:g.100645260G>A	ENSP00000284322:p.Arg56Cys					ABI3BP_uc003duo.2_Missense_Mutation_p.R49C|ABI3BP_uc003dup.4_Missense_Mutation_p.R49C	p.R56C	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			1	251	-			56					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.166C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728064	0.89390	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.28255	1.7;1.62	5.55	5.55	0.83447	.	0.059364	0.64402	D	0.000001	T	0.46249	0.1383	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.91;0.998;0.993	T	0.41088	-0.9528	10	0.59425	D	0.04	-8.7773	18.2894	0.90124	0.0:0.0:1.0:0.0	.	49;56;56	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	C	56	ENSP00000420524:R56C;ENSP00000284322:R56C	ENSP00000284322:R56C	R	-	1	0	ABI3BP	102127950	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.908000	0.87438	2.615000	0.88500	0.650000	0.86243	CGT		0.448	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			A	100645260	G	A	100645260	3	1	75	1	0	0	0	0	1	0	0	0	91	1087	38	1	3197	1	ABI3BP	3	100645260	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	62022816	100645260	97377170	17	4988											
ZPLD1	131368	broad.mit.edu	37	chr3	102157373	102157373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctaacaattagagtGcttccggggtctgctcagtt	7	14	10	10	1	3	1	1	0	2	1	4	1	4	1	1	2	4	4	1	2	3	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:102157373G>A	ENST00000491959.1	+	9	924	c.42G>A	c.(40-42)gtG>gtA	p.V14V	ZPLD1_ENST00000306176.1_Silent_p.V30V|ZPLD1_ENST00000466937.1_Silent_p.V14V			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	14						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAATTAGAGTGCTTCCGGGGT	0.433																																						uc003dvt.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(88-90)gtG>gtA		Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.							151	135	140					3																	102157373		2203	4300	6503	SO:0001819	synonymous_variant	131368					integral to membrane		g.chr3:102157373G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.42G>A	3.37:g.102157373G>A						ZPLD1_uc003dvs.1_Silent_p.V14V|ZPLD1_uc011bhg.1_Silent_p.V14V	p.V30V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			1	190	+			14					Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37	c.90G>A																																																																																					0.433	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		A	102157373	G	A	102157373	2	1	75	1	0	0	0	0	0	0	0	1	18218	1306	46	3		3	ZPLD1	3	102157373	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	1512113	102157373	95865057	18	4989											
CCDC37	348807	broad.mit.edu	37	chr3	126153142	126153142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattgagcaccagctggatGagctgctagagaacctggag	11	8	13	9	0	1	3	1	2	0	1	1	6	1	5	2	2	5	4	2	2	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:126153142G>A	ENST00000352312.1	+	15	1645	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E517K|CCDC37_ENST00000393425.1_Missense_Mutation_p.E517K|CCDC37_ENST00000506204.1_3'UTR	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	516										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGCTGGATGAGCTGCTAGA	0.622																																						uc010hsg.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(1549-1551)Gag>Aag		Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.							69	64	66					3																	126153142		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126153142G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1546G>A	3.37:g.126153142G>A	ENSP00000344749:p.Glu516Lys					CCDC37_uc003eiu.1_Missense_Mutation_p.E516K	p.E517K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	13	1608	+			516					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.1549G>A	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319167	0.81469	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.38887	1.13;1.11;1.11	5.08	4.21	0.49690	.	0.236195	0.42294	D	0.000721	T	0.63954	0.2555	M	0.84326	2.69	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.952	T	0.65907	-0.6054	10	0.45353	T	0.12	-23.2871	11.3029	0.49318	0.0896:0.0:0.9104:0.0	.	517;516	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	516;517;517	ENSP00000344749:E516K;ENSP00000377076:E517K;ENSP00000423046:E517K	ENSP00000344749:E516K	E	+	1	0	CCDC37	127635832	1.000000	0.71417	0.812000	0.32479	0.874000	0.50279	4.458000	0.60095	1.136000	0.42199	-0.229000	0.12294	GAG		0.622	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126153142	G	A	126153142	3	1	75	1	0	0	0	0	1	0	0	0	2809	1291	45	3	1600	3	CCDC37	3	126153142	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	23995769	126153142	71869288	19	4990											
B3GALNT1	8706	broad.mit.edu	37	chr3	160804500	160804500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatttgagggatctcaGtgacatcctactcggaagga	10	10	11	10	1	1	2	1	2	1	0	5	5	3	5	2	3	1	1	2	3	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:160804500G>C	ENST00000392781.2	-	8	790	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.L15V|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.L15V	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	15					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGGGATCTCAGTGACATCCTA	0.527																																						uc003fdv.3																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(43-45)Ctg>Gtg		Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.							45	41	42					3																	160804500		2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804500G>C	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.43C>G	3.37:g.160804500G>C	ENSP00000376532:p.Leu15Val					B3GALNT1_uc003fdw.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fea.3_Missense_Mutation_p.L15V|B3GALNT1_uc011bpa.2_Missense_Mutation_p.L15V|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L15V	p.L15V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		4	462	-			15					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.43C>G	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982493	0.34942	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000417187;ENST00000488170;ENST00000468268;ENST00000492353;ENST00000473142;ENST00000498216;ENST00000484127;ENST00000460353;ENST00000494173	T;T;T;T;T;T;T	0.48201	1.09;1.09;1.09;1.09;1.09;1.09;0.82	5.74	4.85	0.62838	.	0.257041	0.27280	N	0.020095	T	0.20210	0.0486	N	0.02539	-0.55	0.32111	N	0.589326	B;B	0.19706	0.038;0.002	B;B	0.20384	0.029;0.004	T	0.17077	-1.0381	10	0.21540	T	0.41	.	7.9551	0.30038	0.0:0.2102:0.6254:0.1643	.	15;15	E7EVF0;O75752	.;B3GL1_HUMAN	V	15;15;15;15;15;15;15;15;15;15;15;15;135;15	ENSP00000323479:L15V;ENSP00000376530:L15V;ENSP00000376531:L15V;ENSP00000376532:L15V;ENSP00000418226:L15V;ENSP00000420163:L15V;ENSP00000419476:L15V	ENSP00000323479:L15V	L	-	1	2	B3GALNT1	162287194	0.997000	0.39634	1.000000	0.80357	0.830000	0.47004	1.061000	0.30542	2.711000	0.92665	0.561000	0.74099	CTG		0.527	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		C	160804500	G	C	160804500	3	2	75	1	0	0	0	0	1	0	0	0	1245	1020	36	5	956	5	B3GALNT1	3	160804500	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	34651358	160804500	37217930	20	4991											
ZNF391	346157	broad.mit.edu	37	chr6	27368167	27368167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaatggaaagcctcagaggGaatactgctcagggtcctac	12	7	12	10	0	2	1	2	0	0	1	3	3	3	3	2	3	4	2	2	3	5	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:27368167G>A	ENST00000244576.4	+	3	563	c.18G>A	c.(16-18)ggG>ggA	p.G6G		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCTCAGAGGGAATACTGCTC	0.423																																						uc003njf.1																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(16-18)ggG>ggA		Homo sapiens zinc finger protein 391 (ZNF391), mRNA.							84	77	79					6																	27368167		1842	4105	5947	SO:0001819	synonymous_variant	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368167G>A	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.18G>A	6.37:g.27368167G>A						ZNF391_uc021ypw.1_Silent_p.G6G	p.G6G	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			2	536	+			6					B4DH77	Silent	SNP	ENST00000244576.4	37	c.18G>A	CCDS43429.1																																																																																				0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		A	27368167	G	A	27368167	2	1	75	1	0	0	0	0	0	0	0	1	17876	1161	41	3		3	ZNF391	6	27368167	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		27368167	143746900	21	4992											
CCHCR1	54535	broad.mit.edu	37	chr6	31124628	31124628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctgggggttggaccAggggaatgtctgagagccag	8	7	19	7	0	1	1	0	1	1	1	1	5	1	3	3	6	1	1	3	6	1	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:31124628A>G	ENST00000376266.5	-	3	232	c.110T>C	c.(109-111)cTg>cCg	p.L37P	CCHCR1_ENST00000396263.2_Missense_Mutation_p.L37P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.L126P|CCHCR1_ENST00000480060.1_Intron|TCF19_ENST00000376255.4_5'Flank|TCF19_ENST00000376257.3_5'Flank	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGGTTGGACCAGGGGAATGTC	0.577																																						uc003nsp.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(376-378)cTg>cCg		Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.							77	93	88					6																	31124628		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31124628A>G	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.110T>C	6.37:g.31124628A>G	ENSP00000365442:p.Leu37Pro					CCHCR1_uc011dne.2_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Missense_Mutation_p.L37P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	p.L126P	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN			2	566	-			37					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.377T>C	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764721	0.31228	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000448162;ENST00000513222;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829;ENST00000428174;ENST00000507226;ENST00000507892	T;T;T;T;T;T;T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.4	-1.93	0.07594	.	0.786356	0.10470	N	0.670958	T	0.02230	0.0069	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.21688	0.059;0.059;0.012;0.015	B;B;B;B	0.19391	0.025;0.025;0.018;0.015	T	0.44772	-0.9306	10	0.87932	D	0	-0.2167	0.9652	0.01404	0.4366:0.1543:0.2598:0.1492	.	37;37;37;126	B4DIA2;A8K081;Q8TD31;Q8TD31-2	.;.;CCHCR_HUMAN;.	P	126;37;37;37;37;11;37;37;37;63;37;135;37;37;63;37;37	ENSP00000379566:L126P;ENSP00000365442:L37P;ENSP00000379561:L37P;ENSP00000390027:L37P;ENSP00000425682:L11P;ENSP00000420941:L37P;ENSP00000398715:L37P;ENSP00000425595:L37P;ENSP00000402432:L135P;ENSP00000425377:L37P;ENSP00000420911:L37P;ENSP00000389303:L63P;ENSP00000424335:L37P	ENSP00000365442:L37P	L	-	2	0	CCHCR1	31232607	0.000000	0.05858	0.008000	0.14137	0.917000	0.54804	-0.319000	0.08039	-0.213000	0.10094	-0.463000	0.05309	CTG		0.577	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		G	31124628	A	G	31124628	3	3	75	1	0	0	0	0	1	0	0	0	2877	188	7	4	2302	4	CCHCR1	6	31124628	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	3756461	31124628	139990439	22	4993											
TREML2	79865	broad.mit.edu	37	chr6	41166083	41166083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgccctccacgcggtttTtgtagcccttataggagcac	6	12	9	14	2	0	0	0	0	0	0	1	1	1	1	4	2	3	3	4	2	3	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:41166083T>C	ENST00000483722.1	-	2	325	c.140A>G	c.(139-141)aAa>aGa	p.K47R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	47	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACGCGGTTTTTGTAGCCCTT	0.537																																						uc010jxm.1																			0		p.W47L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(139-141)aAa>aGa		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							160	170	167					6																	41166083		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166083T>C	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.140A>G	6.37:g.41166083T>C	ENSP00000418767:p.Lys47Arg						p.K47R	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	319	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		47			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.140A>G	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	0.160	-1.082582	0.01888	.	.	ENSG00000112195	ENST00000483722	T	0.65549	-0.16	4.75	-2.62	0.06152	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465994	0.17435	N	0.174339	T	0.13628	0.0330	N	0.17379	0.485	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.19095	-1.0316	10	0.17369	T	0.5	-8.0395	1.2039	0.01890	0.1571:0.3464:0.1603:0.3362	.	47	Q5T2D2	TRML2_HUMAN	R	47	ENSP00000418767:K47R	ENSP00000418767:K47R	K	-	2	0	TREML2	41274061	0.003000	0.15002	0.126000	0.21872	0.096000	0.18686	-0.102000	0.10956	-0.055000	0.13244	-0.400000	0.06385	AAA		0.537	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		C	41166083	T	C	41166083	3	2	75	1	0	0	0	0	1	0	0	0	16470	1841	64	4	841	4	TREML2	6	41166083	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	10041455	41166083	129948984	23	4994											
C6orf138	442213	broad.mit.edu	37	chr6	47846894	47846894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgttattggcactgacGttgctgactttcaggaactg	7	16	10	8	1	1	2	1	2	0	0	1	3	1	3	0	2	2	4	0	2	2	6	rs147985171	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:47846894G>A	ENST00000339488.4	-	3	1719	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	562						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGGCACTGACGTTGCTGACTT	0.443													G|||	8	0.00159744	0.0023	0	5008	,	,		20683	0		0	False		,,,				2504	0.0051					uc011dwm.2																			0											c.(1684-1686)aaC>aaT		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.		G		11,4395	17.9+/-39.9	0,11,2192	59	53	55		1686	2.4	1	6	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C6orf138	NM_001013732.3		0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923		562/847	47846894	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846894G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1686C>T	6.37:g.47846894G>A						PTCHD4_uc011dwn.2_Silent_p.N309N	p.N562N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			2	1720	-			562					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.1686C>T	CCDS34473.2																																																																																				0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		A	47846894	G	A	47846894	2	1	75	1	0	0	0	0	0	0	0	1	2332	1136	40	1		1	C6orf138	6	47846894	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	6680811	47846894	123268173	24	4995											
SGK1	6446	broad.mit.edu	37	chr6	134493394	134493394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttctccttgcagagtccGaagtcagtaaggacaatgtg	11	11	11	8	1	2	1	1	0	1	1	4	3	3	2	2	1	1	3	2	1	3	3	rs201259463		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:134493394G>A	ENST00000237305.7	-	8	811	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SGK1_ENST00000367858.5_Silent_p.F336F|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367857.5_Silent_p.F231F|SGK1_ENST00000528577.1_Silent_p.F269F|SGK1_ENST00000475719.2_Silent_p.F197F|SGK1_ENST00000413996.3_Silent_p.F255F	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCAGAGTCCGAAGTCAGTAA	0.448													G|||	1	0.000199681	0	0	5008	,	,		20245	0		0.001	False		,,,				2504	0					uc003qen.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(721-723)ttC>ttT		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.		G	,,,	0,4406		0,0,2203	245	218	227		1008,807,765,723	-0.9	1	6		227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGK1	NM_001143676.1,NM_001143677.1,NM_001143678.1,NM_005627.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	336/527,269/460,255/446,241/432	134493394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493394G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.723C>T	6.37:g.134493394G>A						SGK1_uc003qeo.4_Silent_p.F336F|SGK1_uc011ect.2_Silent_p.F231F|SGK1_uc011ecu.2_Silent_p.F197F|SGK1_uc011ecv.2_Silent_p.F255F|SGK1_uc011ecw.2_Silent_p.F269F	p.F241F	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	7	812	-	Colorectal(23;0.221)		241			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.723C>T	CCDS5170.1																																																																																				0.448	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			A	134493394	G	A	134493394	2	1	75	1	0	0	0	0	0	0	0	1	14207	1049	37	2		2	SGK1	6	134493394	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	86646500	134493394	36621673	25	4996											
KBTBD2	25948	broad.mit.edu	37	chr7	32909459	32909459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaaaggacctactaGtctgtctcatggccatttct	10	12	8	11	0	3	1	1	1	3	0	4	2	3	2	2	2	2	1	2	2	4	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:32909459G>T	ENST00000304056.4	-	4	2069	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	457										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGACCTACTAGTCTGTCTCAT	0.438																																						uc003tdb.2																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1369-1371)aCt>aAt		Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.							69	67	68					7																	32909459		2203	4299	6502	SO:0001583	missense	25948							g.chr7:32909459G>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1370C>A	7.37:g.32909459G>T	ENSP00000302586:p.Thr457Asn					AVL9_uc011kai.2_Intron	p.T457N	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		3	2029	-			457					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1370C>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.927000	0.52759	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.68025	-0.3	5.73	4.85	0.62838	Kelch-type beta propeller (1);	0.089673	0.85682	D	0.000000	T	0.70675	0.3251	N	0.24115	0.695	0.58432	D	0.999998	D	0.71674	0.998	D	0.73708	0.981	T	0.73600	-0.3931	10	0.52906	T	0.07	.	14.5727	0.68224	0.0701:0.0:0.9299:0.0	.	457	Q8IY47	KBTB2_HUMAN	N	457;259	ENSP00000302586:T457N	ENSP00000302586:T457N	T	-	2	0	KBTBD2	32875984	1.000000	0.71417	0.912000	0.35992	0.987000	0.75469	9.869000	0.99810	1.433000	0.47394	0.491000	0.48974	ACT		0.438	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		T	32909459	G	T	32909459	3	4	75	1	0	0	0	0	1	0	0	0	7993	1029	36	5	505	5	KBTBD2	7	32909459	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		32909459	126229204	26	4997											
IKZF1	10320	broad.mit.edu	37	chr7	50467932	50467932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcggagcgcgaggcgtcCccgagcaacagctgccaaga	9	3	13	16	5	0	1	0	0	0	1	2	4	1	2	4	2	5	2	4	2	2	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:50467932C>T	ENST00000331340.3	+	8	1322	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	IKZF1_ENST00000343574.5_Silent_p.S302S|IKZF1_ENST00000357364.4_Silent_p.S302S|IKZF1_ENST00000349824.4_Silent_p.S246S|IKZF1_ENST00000346667.4_Silent_p.S159S|IKZF1_ENST00000359197.5_Silent_p.S347S|IKZF1_ENST00000438033.1_Silent_p.S302S|IKZF1_ENST00000439701.1_Silent_p.S347S|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	389					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCGAGGCGTCCCCGAGCAACA	0.672			"D,T"	BCL6	"ALL, DLBCL"																																	uc003tow.4				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1165-1167)tcC>tcT		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							20	27	24					7																	50467932		2130	4226	6356	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467932C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1167C>T	7.37:g.50467932C>T						IKZF1_uc022acq.1_Silent_p.S246S|IKZF1_uc003tpa.4_Silent_p.S154S|IKZF1_uc022acr.1_Silent_p.S164S|IKZF1_uc022acs.1_Silent_p.S119S|IKZF1_uc022act.1_Silent_p.S292S|IKZF1_uc022acu.1_Silent_p.S302S|IKZF1_uc003tox.4_Silent_p.S347S|IKZF1_uc022acv.1_Silent_p.S250S|IKZF1_uc022acw.1_Silent_p.S260S|IKZF1_uc022acx.1_Silent_p.S302S|IKZF1_uc022acy.1_Silent_p.S196S|IKZF1_uc022acz.1_Silent_p.S206S|IKZF1_uc011kck.2_Silent_p.S302S|IKZF1_uc003toy.4_Silent_p.S347S|IKZF1_uc003toz.4_Silent_p.S359S|IKZF1_uc010kyx.3_Silent_p.S129S	p.S389S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1322	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	389					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1167C>T																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50467932	C	T	50467932	2	4	75	1	0	0	0	0	0	0	0	1	7614	610	22	3		3	IKZF1	7	50467932	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	17558473	50467932	108670731	27	4998											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179	143	155					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221821	G	A	55221821	3	1	75	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	4753889	55221821	103916842	28	4999											
SEMA3C	10512	broad.mit.edu	37	chr7	80387708	80387708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcaataagggtcccGcgccaggcagcagtcagcac	10	3	13	15	3	1	0	1	0	0	0	2	0	2	0	3	3	2	4	3	3	2	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:80387708G>A	ENST00000265361.3	-	15	2143	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R528W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R546W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	528					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAGGGTCCCGCGCCAGGCAG	0.527																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1636-1638)Cgg>Tgg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							109	104	106					7																	80387708		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387708G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1582C>T	7.37:g.80387708G>A	ENSP00000265361:p.Arg528Trp					SEMA3C_uc003uhj.3_Missense_Mutation_p.R528W	p.R546W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1715	-			528					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1636C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708266	0.68615	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.28069	1.63;1.63;1.63	5.47	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76389	-0.2977	10	0.87932	D	0	.	13.4867	0.61371	0.0:0.0:0.4402:0.5598	.	546;528	F5H1Z7;Q99985	.;SEM3C_HUMAN	W	528;528;546	ENSP00000265361:R528W;ENSP00000411193:R528W;ENSP00000445649:R546W	ENSP00000265361:R528W	R	-	1	2	SEMA3C	80225644	0.932000	0.31603	0.743000	0.31040	0.945000	0.59286	1.358000	0.34102	0.438000	0.26450	0.467000	0.42956	CGG		0.527	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80387708	G	A	80387708	3	1	75	1	0	0	0	0	1	0	0	0	14026	1086	38	1	689	1	SEMA3C	7	80387708	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	25165887	80387708	78750955	29	5000											
NPTX2	4885	broad.mit.edu	37	chr7	98257875	98257875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgggtggacaataacgtCgatgtgttcggaggggcctc	7	9	16	9	4	0	0	0	0	0	0	3	3	0	2	2	5	1	1	2	5	2	2	rs199857878		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	410	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V410V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582																																						uc003upl.2																			1	Substitution - coding silent(1)	p.V410V(2)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1228-1230)gtC>gtT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		C		0,4406		0,0,2203	75	65	68		1230	-7.4	0.7	7		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPTX2	NM_002523.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		410/432	98257875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257875C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1230C>T	7.37:g.98257875C>T							p.V410V	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1407	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		410			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1230C>T	CCDS5657.1																																																																																				0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98257875	C	T	98257875	2	4	75	1	0	0	0	0	0	0	0	1	10603	871	31	2		2	NPTX2	7	98257875	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	17870167	98257875	60880788	30	5001											
C7orf51	222950	broad.mit.edu	37	chr7	100085924	100085924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggggaacctgcctcttCagcgcctcactagggggtcc	6	7	15	13	1	3	0	2	0	1	0	4	2	4	1	4	5	3	0	4	5	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100085924C>A	ENST00000300179.2	+	4	739	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	NYAP1_ENST00000423930.1_Missense_Mutation_p.Q194K|NYAP1_ENST00000454988.1_Missense_Mutation_p.Q137K	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	194					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCTGCCTCTTCAGCGCCTCAC	0.637																																						uc003uvd.1																			0											c.(580-582)Cag>Aag		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.							46	55	52					7																	100085924		2203	4300	6503	SO:0001583	missense	222950							g.chr7:100085924C>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.580C>A	7.37:g.100085924C>A	ENSP00000300179:p.Gln194Lys					NYAP1_uc003uve.1_5'UTR	p.Q194K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	739	+			194					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.580C>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039441	0.35989	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.42900	0.96;0.96;0.96	5.03	5.03	0.67393	.	0.136277	0.34025	N	0.004333	T	0.28167	0.0695	N	0.14661	0.345	0.48571	D	0.999677	B	0.26935	0.164	B	0.28849	0.095	T	0.08432	-1.0722	10	0.18276	T	0.48	-8.4432	15.8456	0.78887	0.0:1.0:0.0:0.0	.	194	Q6ZVC0	CG051_HUMAN	K	194;194;137	ENSP00000300179:Q194K;ENSP00000411861:Q194K;ENSP00000394424:Q137K	ENSP00000300179:Q194K	Q	+	1	0	C7orf51	99923860	0.961000	0.32948	0.999000	0.59377	0.979000	0.70002	3.496000	0.53288	2.327000	0.79052	0.407000	0.27541	CAG		0.637	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100085924	C	A	100085924	3	1	75	1	0	0	0	0	1	0	0	0	2400	827	29	5	590	5	C7orf51	7	100085924	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	1828049	100085924	59052739	31	5002											
MUC17	140453	broad.mit.edu	37	chr7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaaccactcCgttaacaagtatacctgtca	13	10	7	11	1	1	1	1	1	0	0	3	2	3	2	4	1	3	2	4	1	7	4	rs141608296		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													N|||	1	0.000199681	8e-04	0	5008	,	,		25227	0		0	False		,,,				2504	0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4189-4191)cCg>cTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							264	270	268					7																	100678887		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678887C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4190C>T	7.37:g.100678887C>T	ENSP00000302716:p.Pro1397Leu					MUC17_uc010lho.1_Non-coding_Transcript	p.P1397L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	4243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1397			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4190C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.380	-0.126650	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.73	0.73	0.18271	.	.	.	.	.	T	0.01730	0.0055	L	0.27053	0.805	0.09310	N	1	P	0.47841	0.901	B	0.26202	0.067	T	0.48163	-0.9059	9	0.19590	T	0.45	.	4.9076	0.13806	0.0:1.0:0.0:0.0	.	1397	Q685J3	MUC17_HUMAN	L	1397	ENSP00000302716:P1397L	ENSP00000302716:P1397L	P	+	2	0	MUC17	100465607	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	1.355000	0.34068	0.720000	0.32209	0.134000	0.15878	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678887	C	T	100678887	3	4	75	1	0	0	0	0	1	0	0	0	9974	652	23	2	4200	2	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	592963	100678887	58459776	32	5003											
FIS1	51024	broad.mit.edu	37	chr7	100887381	100887381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgctcttggacaccgAgcctgctgccttctcagact	5	11	10	15	2	2	1	1	0	2	1	3	3	2	2	3	1	5	2	3	1	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100887381A>T	ENST00000223136.4	-	2	165	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	FIS1_ENST00000474120.1_Intron|FIS1_ENST00000482199.1_5'Flank|FIS1_ENST00000442303.1_Intron	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	29					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGACACCGAGCCTGCTGCC	0.512											OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003uyj.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(85-87)Tcg>Acg		Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.							83	90	87					7																	100887381		2057	4194	6251	SO:0001583	missense	51024				apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	g.chr7:100887381A>T	AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"CGI-135 protein"	609003	"tetratricopeptide repeat domain 11", "fission 1 (mitochondrial outer membrane) homolog (yeast)"	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.85T>A	7.37:g.100887381A>T	ENSP00000223136:p.Ser29Thr		OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Intron	p.S29T	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN			1	171	-	Lung NSC(181;0.168)|all_lung(186;0.215)		29					Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	c.85T>A	CCDS43626.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504894	0.44558	.	.	ENSG00000214253	ENST00000223136	.	.	.	5.93	2.16	0.27623	Tetratricopeptide-like helical (1);	0.220326	0.30011	U	0.010624	T	0.31796	0.0808	N	0.21240	0.645	0.38055	D	0.935905	B	0.10296	0.003	B	0.10450	0.005	T	0.10291	-1.0636	9	0.13470	T	0.59	.	7.4343	0.27145	0.5992:0.3267:0.0741:0.0	.	29	Q9Y3D6	FIS1_HUMAN	T	29	.	ENSP00000223136:S29T	S	-	1	0	FIS1	100674101	0.927000	0.31430	0.974000	0.42286	0.998000	0.95712	0.090000	0.15025	0.104000	0.17725	0.459000	0.35465	TCG		0.512	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1	NM_016068		T	100887381	A	T	100887381	3	4	75	1	0	0	0	0	1	0	0	0	5897	304	11	5	389	5	FIS1	7	100887381	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	208494	100887381	58251282	33	5004											
DUS4L	11062	broad.mit.edu	37	chr7	107214222	107214222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctcgtatagtctgTccttatgcgaatggaataga	10	13	11	7	2	1	1	0	0	1	1	3	4	2	2	1	1	3	3	1	1	6	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:107214222T>G	ENST00000265720.3	+	5	674	c.312T>G	c.(310-312)tgT>tgG	p.C104W	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	104							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATAGTCTGTCCTTATGCGA	0.383																																						uc003veh.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(310-312)tgT>tgG		Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.							243	220	227					7																	107214222		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107214222T>G	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.312T>G	7.37:g.107214222T>G	ENSP00000265720:p.Cys104Trp					DUS4L_uc011klw.2_Intron|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_Intron|DUS4L_uc010ljl.3_5'Flank	p.C104W	NM_181581	NP_853559	O95620	DUS4L_HUMAN			4	645	+			104					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.312T>G	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456543	0.43634	.	.	ENSG00000105865	ENST00000265720	T	0.29142	1.58	6.11	-0.466	0.12153	Aldolase-type TIM barrel (1);	0.199019	0.53938	D	0.000052	T	0.18341	0.0440	L	0.39898	1.24	0.80722	D	1	P	0.38370	0.628	B	0.33799	0.17	T	0.03008	-1.1083	10	0.40728	T	0.16	.	6.4383	0.21835	0.0:0.2536:0.1178:0.6285	.	104	O95620	DUS4L_HUMAN	W	104	ENSP00000265720:C104W	ENSP00000265720:C104W	C	+	3	2	DUS4L	107001458	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.246000	0.32803	-0.070000	0.12908	0.533000	0.62120	TGT		0.383	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		G	107214222	T	G	107214222	3	3	75	1	0	0	0	0	1	0	0	0	4808	1673	58	5	322	5	DUS4L	7	107214222	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	6326841	107214222	51924441	34	5005											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864290	22864290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaagggtcgggaggtgGccaaggagctgggcatcccc	9	4	18	10	1	0	1	0	0	0	1	2	4	1	3	3	6	1	2	3	6	2	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:22864290G>A	ENST00000251822.6	+	5	1069	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.A200T|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.A185T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	178	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGGAGGTGGCCAAGGAGCT	0.577																																						uc003xcp.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(598-600)Gcc>Acc		Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.							74	70	72					8																	22864290		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864290G>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.532G>A	8.37:g.22864290G>A	ENSP00000251822:p.Ala178Thr					RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A178T|BC043400_uc003xcr.3_Non-coding_Transcript	p.A200T	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	881	+		Prostate(55;0.0513)|Breast(100;0.214)	178			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.598G>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725522	0.89298	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	D;D;D	0.82167	-1.58;-1.58;-1.58	5.28	5.28	0.74379	.	0.101711	0.64402	D	0.000002	D	0.92596	0.7648	M	0.89534	3.04	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.973;0.973	D	0.93996	0.7271	10	0.87932	D	0	.	17.4639	0.87627	0.0:0.0:1.0:0.0	.	185;178;200	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	T	200;185;178	ENSP00000427926:A200T;ENSP00000429141:A185T;ENSP00000251822:A178T	ENSP00000251822:A178T	A	+	1	0	RHOBTB2	22920235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.449000	0.82847	0.563000	0.77884	GCC		0.577	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			A	22864290	G	A	22864290	3	1	75	1	0	0	0	0	1	0	0	0	13334	1203	42	3	631	3	RHOBTB2	8	22864290	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		22864290	123499732	35	5006											
TEX15	56154	broad.mit.edu	37	chr8	30699744	30699744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagctgtaaaatctTccttctgttatacagcattt	9	18	4	10	0	4	0	1	0	3	0	6	0	5	0	1	0	3	4	1	0	4	7			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:30699744T>C	ENST00000256246.2	-	1	6864	c.6790A>G	c.(6790-6792)Aag>Gag	p.K2264E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2264					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTAAAATCTTCCTTCTGTTA	0.313																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6790-6792)Aag>Gag		Homo sapiens testis expressed 15 (TEX15), mRNA.							68	65	66					8																	30699744		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30699744T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6790A>G	8.37:g.30699744T>C	ENSP00000256246:p.Lys2264Glu						p.K2264E	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	6790	-			2264						Missense_Mutation	SNP	ENST00000256246.2	37	c.6790A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059093	0.07317	.	.	ENSG00000133863	ENST00000256246	T	0.12147	2.71	5.63	1.96	0.26148	.	0.323442	0.25994	N	0.026984	T	0.12860	0.0312	L	0.54323	1.7	0.09310	N	1	B	0.32653	0.379	B	0.30105	0.111	T	0.13124	-1.0521	10	0.87932	D	0	.	8.9253	0.35637	0.0:0.2128:0.0:0.7872	.	2264	Q9BXT5	TEX15_HUMAN	E	2264	ENSP00000256246:K2264E	ENSP00000256246:K2264E	K	-	1	0	TEX15	30819286	0.904000	0.30761	0.015000	0.15790	0.017000	0.09413	3.500000	0.53318	0.099000	0.17552	0.460000	0.39030	AAG		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30699744	T	C	30699744	3	2	75	1	0	0	0	0	1	0	0	0	15776	1792	62	4	1595	4	TEX15	8	30699744	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	7835454	30699744	115664278	36	5007											
PLEC	5339	broad.mit.edu	37	chr8	144993481	144993481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcgtcgctggggtccGccaggacgcggttcatctcc	3	10	15	13	5	2	0	1	0	1	0	6	1	3	1	3	5	0	2	3	5	0	1	rs371006283		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:144993481G>A	ENST00000322810.4	-	32	11088	c.10919C>T	c.(10918-10920)gCg>gTg	p.A3640V	PLEC_ENST00000436759.2_Missense_Mutation_p.A3530V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3503V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3526V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3489V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3471V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3481V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3507V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3503V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3640	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGGGGTCCGCCAGGACGCG	0.662																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10918-10920)gCg>gTg		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4139		0,1,2069	72	80	77		10589,10466,10442,10919,10412,10508,10520,10508	2.1	0	8		77	0,8374		0,0,4187	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	64,64,64,64,64,64,64,64	0,1,6256	AA,AG,GG		0.0,0.0242,0.0080	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	3530/4575,3489/4534,3481/4526,3640/4685,3471/4516,3503/4548,3507/4552,3503/4548	144993481	1,12513	2070	4187	6257	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993481G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10919C>T	8.37:g.144993481G>A	ENSP00000323856:p.Ala3640Val					PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	p.A3640V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	11089	-			3640			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10919C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	1.608	-0.524822	0.04141	2.42E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.03	2.12	0.27331	.	1.149570	0.06566	U	0.747582	T	0.59838	0.2223	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B;B;B	0.26975	0.052;0.052;0.052;0.064;0.052;0.052;0.165;0.052	B;B;B;B;B;B;B;B	0.16289	0.009;0.009;0.009;0.015;0.009;0.009;0.009;0.009	T	0.46762	-0.9168	10	0.46703	T	0.11	.	8.3297	0.32178	0.0729:0.0:0.5093:0.4178	.	3530;3489;3481;3640;3471;3503;3507;3503	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3503;3507;3503;3471;3640;3481;3489;3530;3526	ENSP00000344848:A3503V;ENSP00000350277:A3507V;ENSP00000346602:A3503V;ENSP00000381756:A3471V;ENSP00000323856:A3640V;ENSP00000347044:A3481V;ENSP00000348702:A3489V;ENSP00000388180:A3530V;ENSP00000434583:A3526V	ENSP00000323856:A3640V	A	-	2	0	PLEC	145065469	0.084000	0.21492	0.008000	0.14137	0.052000	0.14988	1.217000	0.32455	0.241000	0.21283	0.448000	0.29417	GCG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144993481	G	A	144993481	3	1	75	1	0	0	0	0	1	0	0	0	12052	1087	38	1	3139	1	PLEC	8	144993481	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	114293737	144993481	1370541	37	5008											
CDKN2A	1029	broad.mit.edu	37	chr9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-																															gcgtcgtgcacgggtcgggtGagagtggcggggtcggcgca																										TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr9:21971124_21971125delGA	ENST00000304494.5	-	2	503_504	c.233_234delTC	c.(232-234)ctcfs	p.L78fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H134fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	78					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.3		17																	1380	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(17)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(1315)|p.?(44)|p.L78fs*41(29)|p.L78fs*67(2)|p.E61_L94del(2)|p.T77fs*43(2)|p.L78H(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.T77S(1)|p.T77fs*69(1)|p.H134fs*41(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(168)|lung(145)|urinary_tract(91)|bone(75)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(55)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(232-234)ctcfs		Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971124_21971125delGA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.233_234delTC	9.37:g.21971126_21971127delGA	ENSP00000307101:p.Leu78fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.L78fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.S92fs	p.L78fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	539_540	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	78					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.233_234delTC	CCDS6510.1																																																																																				0.723	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		-	21971125	GA	-	21971124	7	5	75	1	0	1	0	1	0	0	0	0	3161	1290	45	0	244	0	CDKN2A	9	21971124	Frame_Shift_Del	DEL	GA	TCGA-06-2557-01A-01D-1494-08		21971124	119242307	38	5009											
AKR1C1	1645	broad.mit.edu	37	chr10	5014817	5014817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcttggaggacccagtccTttgtgccttggcaaaaaagc	9	10	11	11	0	1	0	0	0	1	0	2	2	2	2	3	3	2	2	3	3	3	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:5014817T>A	ENST00000380872.4	+	7	914	c.722T>A	c.(721-723)cTt>cAt	p.L241H	AKR1C1_ENST00000434459.2_Missense_Mutation_p.L241H|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	241					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GACCCAGTCCTTTGTGCCTTG	0.592																																					Colon(130;2054 2316 13360 15380)	uc001iho.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(721-723)cTt>cAt		Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						53	61	59					10																	5014817		2203	4295	6498	SO:0001583	missense	1645				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5014817T>A	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.722T>A	10.37:g.5014817T>A	ENSP00000370254:p.Leu241His					AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.L241H	p.L241H	NM_001353	NP_001344	P42330	AK1C3_HUMAN			11	1563	+			241					P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.722T>A	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.30|12.30	1.896675|1.896675	0.33535|0.33535	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000442997|ENST00000434459;ENST00000380872	.|T;T	.|0.31247	.|1.5;1.5	1.97|1.97	1.97|1.97	0.26223|0.26223	.|NADP-dependent oxidoreductase domain (3);	.|0.117068	.|0.37393	.|N	.|0.002110	T|T	0.60599|0.60599	0.2281|0.2281	H|H	0.94847|0.94847	3.59|3.59	0.18873|0.18873	N|N	0.999986|0.999986	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.51949|0.51949	-0.8640|-0.8640	5|10	.|0.87932	.|D	.|0	.|.	7.9035|7.9035	0.29748|0.29748	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|241	.|Q04828	.|AK1C1_HUMAN	I|H	208|241	.|ENSP00000412248:L241H;ENSP00000370254:L241H	.|ENSP00000370254:L241H	F|L	+|+	1|2	0|0	AKR1C1|AKR1C1	5004817|5004817	0.361000|0.361000	0.24972|0.24972	0.003000|0.003000	0.11579|0.11579	0.351000|0.351000	0.29236|0.29236	4.270000|4.270000	0.58896|0.58896	1.162000|1.162000	0.42619|0.42619	0.254000|0.254000	0.18369|0.18369	TTT|CTT		0.592	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		A	5014817	T	A	5014817	3	1	75	1	0	0	0	0	1	0	0	0	469	1609	56	5	748	5	AKR1C1	10	5014817	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08		5014817	130519930	39	5010											
SORCS3	22986	broad.mit.edu	37	chr10	107015536	107015536	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggggtacaagtcattgTgtatgtcacacagctgacgt	9	10	13	9	2	2	1	2	1	0	0	2	1	2	1	1	2	2	3	1	2	3	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:107015536T>G	ENST00000369701.3	+	24	3541	c.3314T>G	c.(3313-3315)gTg>gGg	p.V1105G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1105					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGTCATTGTGTATGTCACA	0.438																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			0		p.V1105L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3313-3315)gTg>gGg		Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.							113	98	103					10																	107015536		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107015536T>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3314T>G	10.37:g.107015536T>G	ENSP00000358715:p.Val1105Gly						p.V1105G	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	23	3541	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1105					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3314T>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.748169	0.89663	.	.	ENSG00000156395	ENST00000369701	T	0.26067	1.76	5.73	5.73	0.89815	.	0.066185	0.64402	D	0.000010	T	0.49133	0.1539	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39981	-0.9587	9	.	.	.	.	16.3265	0.82983	0.0:0.0:0.0:1.0	.	1105	Q9UPU3	SORC3_HUMAN	G	1105	ENSP00000358715:V1105G	.	V	+	2	0	SORCS3	107005526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.833000	0.62766	2.313000	0.78055	0.455000	0.32223	GTG		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		G	107015536	T	G	107015536	3	3	75	1	0	0	0	0	1	0	0	0	14932	1696	59	5	3408	5	SORCS3	10	107015536	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	102000719	107015536	28519211	40	5011											
MADD	8567	broad.mit.edu	37	chr11	47307122	47307122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accagcaccgagggcttcggGggcatcatgtcttttgccag	7	9	13	12	2	2	0	1	0	1	0	3	1	2	0	3	3	2	3	3	3	0	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:47307122G>A	ENST00000311027.5	+	14	2697	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MADD_ENST00000395336.3_Silent_p.G844G|MADD_ENST00000395344.3_Silent_p.G801G|MADD_ENST00000402799.1_Silent_p.G801G|MADD_ENST00000406482.1_Silent_p.G801G|MADD_ENST00000342922.4_Silent_p.G844G|MADD_ENST00000402192.2_Silent_p.G844G|MADD_ENST00000407859.3_Silent_p.G801G|MADD_ENST00000349238.3_Silent_p.G844G	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGGCTTCGGGGGCATCATGT	0.532																																						uc001ner.1																			0		p.G844W(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(2530-2532)ggG>ggA		Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.							145	142	143					11																	47307122		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47307122G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2532G>A	11.37:g.47307122G>A						MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G|MADD_uc001nex.2_Silent_p.G844G	p.G844G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	2723	+			844						Silent	SNP	ENST00000311027.5	37	c.2532G>A	CCDS7930.1																																																																																				0.532	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47307122	G	A	47307122	2	1	75	1	0	0	0	0	0	0	0	1	9152	1219	43	3		3	MADD	11	47307122	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		47307122	87699394	41	5012											
OR5T3	390154	broad.mit.edu	37	chr11	56019879	56019879	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaatctatctctttacCttgataggcaatttagggct	9	17	7	8	0	2	1	0	1	2	0	3	1	2	1	1	2	2	3	1	2	6	8			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:56019879C>A	ENST00000303059.3	+	1	204	c.204C>A	c.(202-204)acC>acA	p.T68T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCTCTTTACCTTGATAGGCA	0.373																																						uc010rjd.2																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(202-204)acC>acA		Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.							101	102	101					11																	56019879		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019879C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.204C>A	11.37:g.56019879C>A							p.T68T	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			0	204	+	Esophageal squamous(21;0.00448)		68					Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.204C>A	CCDS31524.1																																																																																				0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		A	56019879	C	A	56019879	2	1	75	1	0	0	0	0	0	0	0	1	11183	668	24	5		5	OR5T3	11	56019879	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	8712757	56019879	78986637	42	5013											
MS4A3	932	broad.mit.edu	37	chr11	59834575	59834575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctatgcaattacatgggctCcatatcaaatgtatgtttct	11	15	6	9	0	2	0	1	0	1	0	3	0	3	0	2	1	2	4	2	1	6	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:59834575C>T	ENST00000278865.3	+	5	576	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MS4A3_ENST00000358152.2_Missense_Mutation_p.S122F|MS4A3_ENST00000395032.2_Missense_Mutation_p.S45F|MS4A3_ENST00000534744.1_Missense_Mutation_p.S122F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	168						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACATGGGCTCCATATCAAAT	0.343																																						uc001nom.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(502-504)tCc>tTc		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							55	50	52					11																	59834575		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59834575C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.503C>T	11.37:g.59834575C>T	ENSP00000278865:p.Ser168Phe					MS4A3_uc001non.3_Missense_Mutation_p.S122F|MS4A3_uc001noo.3_Missense_Mutation_p.S45F	p.S168F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			4	631	+		all_epithelial(135;0.245)	168					A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.503C>T	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	7.718	0.696558	0.15106	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.32	2.43	0.29744	.	2.480590	0.01999	U	0.046155	T	0.06371	0.0164	M	0.81802	2.56	0.09310	N	1	B;B	0.25904	0.113;0.137	B;B	0.23018	0.025;0.043	T	0.52064	-0.8625	10	0.20519	T	0.43	-7.6185	6.3227	0.21227	0.0:0.7716:0.0:0.2284	.	122;168	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	F	45;122;168;122	ENSP00000378473:S45F;ENSP00000350872:S122F;ENSP00000278865:S168F;ENSP00000434117:S122F	ENSP00000278865:S168F	S	+	2	0	MS4A3	59591151	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.008000	0.12788	0.440000	0.26502	0.471000	0.43371	TCC		0.343	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			T	59834575	C	T	59834575	3	4	75	1	0	0	0	0	1	0	0	0	9861	855	30	3	517	3	MS4A3	11	59834575	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	3814696	59834575	75171941	43	5014											
AHNAK	79026	broad.mit.edu	37	chr11	62300927	62300927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttggtgtctggcccTcacgccctgttgagacacca	5	11	10	15	1	2	1	1	1	1	1	2	2	2	1	4	2	1	1	4	2	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:62300927T>G	ENST00000378024.4	-	5	1236	c.962A>C	c.(961-963)gAg>gCg	p.E321A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	321					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCTGGCCCTCACGCCCTGT	0.552																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(961-963)gAg>gCg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							69	72	71					11																	62300927		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300927T>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.962A>C	11.37:g.62300927T>G	ENSP00000367263:p.Glu321Ala					AHNAK_uc001ntk.1_Intron	p.E321A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	1262	-		Melanoma(852;0.155)	321					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.962A>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	6.516	0.463494	0.12402	.	.	ENSG00000124942	ENST00000378024	T	0.00730	5.77	5.23	2.78	0.32641	.	1.739540	0.04058	U	0.305801	T	0.01222	0.0040	L	0.59436	1.845	0.19300	N	0.999978	B	0.31209	0.313	B	0.32805	0.153	T	0.56884	-0.7905	10	0.09084	T	0.74	-2.4803	6.4548	0.21924	0.1566:0.0:0.1639:0.6795	.	321	Q09666	AHNK_HUMAN	A	321	ENSP00000367263:E321A	ENSP00000367263:E321A	E	-	2	0	AHNAK	62057503	0.004000	0.15560	0.136000	0.22124	0.259000	0.26198	0.979000	0.29500	0.262000	0.21774	0.528000	0.53228	GAG		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62300927	T	G	62300927	3	3	75	1	0	0	0	0	1	0	0	0	414	1551	54	5	16830	5	AHNAK	11	62300927	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	2466352	62300927	72705589	44	5015											
FLRT1	28992	broad.mit.edu	37	chr11	63884137	63884137	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccctccgggagctgcAcctgcaggacaacaatgtgc	8	6	11	16	2	0	0	0	0	0	0	2	2	2	2	4	2	5	4	4	2	2	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:63884137A>G	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.H133R|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGAGCTGCACCTGCAGGAC	0.602																																						uc021qks.1																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(397-399)cAc>cGc		Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.							48	48	48					11																	63884137		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884137A>G	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34573T>C	11.37:g.63884137A>G						MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.H133R	p.H133R	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN			0	398	+			105					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.398A>G	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239568	0.58995	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.56	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53669	-0.8406	10	0.39692	T	0.17	-43.3423	10.8219	0.46610	0.9229:0.0:0.0771:0.0	.	105	Q9NZU1	FLRT1_HUMAN	R	133	ENSP00000246841:H133R	ENSP00000246841:H133R	H	+	2	0	FLRT1	63640713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.514000	0.81750	2.114000	0.64651	0.454000	0.30748	CAC		0.602	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		G	63884137	A	G	63884137	1	3	75	0	1	0	0	0	0	0	0	0	5938	159	6	4		4	FLRT1	11	63884137	Intron	SNP	A	TCGA-06-2557-01A-01D-1494-08	1583210	63884137	71122379	45	5016											
KAT5	10524	broad.mit.edu	37	chr11	65482151	65482151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaactcaccacattgcctgtCctctacctgtgcgagttctg	7	12	8	14	1	3	0	1	0	2	0	4	2	4	0	4	0	4	1	4	0	2	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:65482151C>T	ENST00000377046.3	+	8	1049	c.777C>T	c.(775-777)gtC>gtT	p.V259V	KAT5_ENST00000352980.4_Silent_p.V207V|KAT5_ENST00000534650.1_Silent_p.V48V|KAT5_ENST00000341318.4_Silent_p.V292V|KAT5_ENST00000530446.1_Silent_p.V240V	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	259	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CATTGCCTGTCCTCTACCTGT	0.582																																						uc001ofi.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(775-777)gtC>gtT		Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.							228	194	205					11																	65482151		2201	4297	6498	SO:0001819	synonymous_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482151C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.777C>T	11.37:g.65482151C>T						KAT5_uc001ofj.3_Silent_p.V207V|KAT5_uc001ofk.3_Silent_p.V292V|KAT5_uc010roo.2_Silent_p.V240V|KAT5_uc001ofl.3_Silent_p.V48V	p.V259V	NM_006388	NP_006379	Q92993	KAT5_HUMAN			7	1043	+			259					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Silent	SNP	ENST00000377046.3	37	c.777C>T	CCDS31610.1																																																																																				0.582	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		T	65482151	C	T	65482151	2	4	75	1	0	0	0	0	0	0	0	1	7983	842	30	3		3	KAT5	11	65482151	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	1598014	65482151	69524365	46	5017											
APOBEC1	339	broad.mit.edu	37	chr12	7805333	7805333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttcgccagatcttcCggctcatgccccacttgatt	6	12	8	15	2	2	3	1	2	1	1	4	3	3	3	4	1	2	2	4	1	0	4	rs149648198		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:7805333C>T	ENST00000229304.4	-	3	163	c.143G>A	c.(142-144)cGg>cAg	p.R48Q		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	48					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCAGATCTTCCGGCTCATGCC	0.453																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.3																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(142-144)cGg>cAg		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	38	40	39		143	-9	0	12	dbSNP_134	39	2,8596		0,2,4297	no	missense	APOBEC1	NM_001644.3	43	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign	48/237	7805333	2,13002	2203	4299	6502	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805333C>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.143G>A	12.37:g.7805333C>T	ENSP00000229304:p.Arg48Gln					APOBEC1_uc001qtc.3_Missense_Mutation_p.R3Q	p.R48Q	NM_001644	NP_001635	P41238	ABEC1_HUMAN			2	177	-			48					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.143G>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.199956	0.01581	0.0	2.33E-4	ENSG00000111701	ENST00000229304	T	0.61392	0.11	4.48	-8.96	0.00761	APOBEC-like, N-terminal (1);	2.214750	0.01687	N	0.026466	T	0.42471	0.1204	L	0.33485	1.01	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.33292	-0.9874	10	0.12766	T	0.61	2.4831	12.6624	0.56822	0.0:0.6113:0.2177:0.171	.	48	P41238	ABEC1_HUMAN	Q	48	ENSP00000229304:R48Q	ENSP00000229304:R48Q	R	-	2	0	APOBEC1	7696600	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.600000	0.00892	-2.894000	0.00314	-2.777000	0.00118	CGG		0.453	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		T	7805333	C	T	7805333	3	4	75	1	0	0	0	0	1	0	0	0	787	652	23	2	579	2	APOBEC1	12	7805333	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		7805333	126046562	47	5018											
ATF7IP	55729	broad.mit.edu	37	chr12	14589059	14589059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaattttctagacgaaaAcgttctaaatcagaagacat	17	11	7	6	2	3	4	1	1	2	3	3	6	3	4	0	0	1	1	0	0	7	5	rs141409610		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:14589059A>T	ENST00000540793.1	+	3	1820	c.1665A>T	c.(1663-1665)aaA>aaT	p.K555N	ATF7IP_ENST00000544627.1_Missense_Mutation_p.K563N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.K554N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.K555N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.K554N|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	555	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTAGACGAAAACGTTCTAAAT	0.348																																						uc001rbw.3																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1663-1665)aaA>aaT		Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.							89	85	86					12																	14589059		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589059A>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1665A>T	12.37:g.14589059A>T	ENSP00000444589:p.Lys555Asn					ATF7IP_uc010shs.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbu.3_Missense_Mutation_p.K555N|ATF7IP_uc001rbv.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbx.3_Missense_Mutation_p.K554N|ATF7IP_uc010sht.1_Missense_Mutation_p.K555N|ATF7IP_uc001rby.4_Missense_Mutation_p.K555N|ATF7IP_uc001rca.3_Missense_Mutation_p.K555N	p.K555N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			3	1823	+			555			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1665A>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778593	0.70107	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.33654	1.41;1.49;1.41;1.4;1.41	5.48	4.34	0.51931	.	0.000000	0.64402	D	0.000013	T	0.51160	0.1658	L	0.56769	1.78	0.49051	D	0.999742	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.998;0.997;0.997;0.998;0.998	T	0.51818	-0.8657	10	0.87932	D	0	-27.4705	6.5524	0.22442	0.7096:0.0:0.2904:0.0	.	563;554;554;555;554;166	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	N	555;554;554;563;555	ENSP00000261168:K555N;ENSP00000443179:K554N;ENSP00000445955:K554N;ENSP00000440440:K563N;ENSP00000444589:K555N	ENSP00000261168:K555N	K	+	3	2	ATF7IP	14480326	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.153000	0.31676	1.026000	0.39733	0.477000	0.44152	AAA		0.348	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		T	14589059	A	T	14589059	3	4	75	1	0	0	0	0	1	0	0	0	1087	40	2	5	1675	5	ATF7IP	12	14589059	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	6783726	14589059	119262836	48	5019											
FAM113B	91523	broad.mit.edu	37	chr12	47629951	47629951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatgcaggtttcttcGtcgaagacaattttatggtt	9	14	9	9	2	1	1	0	0	1	1	3	2	1	1	1	2	2	3	1	2	3	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:47629951G>A	ENST00000546455.1	+	4	1836	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	PCED1B_ENST00000432328.1_Missense_Mutation_p.V369I|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	369	Pro-rich.						hydrolase activity (GO:0016787)										AGGTTTCTTCGTCGAAGACAA	0.527																																						uc001rpq.3																			0		p.F368F(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35						c.(1105-1107)Gtc>Atc		Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.							154	151	152					12																	47629951		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629951G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1105G>A	12.37:g.47629951G>A	ENSP00000446688:p.Val369Ile					FAM113B_uc001rpn.3_Missense_Mutation_p.V369I|FAM113B_uc021qxi.1_Missense_Mutation_p.V369I	p.V369I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			1	1630	+	Renal(347;0.138)|Lung SC(27;0.192)		369			Pro-rich.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1105G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513115	0.44660	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.30714	1.52;1.52	4.04	-2.95	0.05564	.	0.912441	0.08947	N	0.870727	T	0.13114	0.0318	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24728	-1.0152	10	0.25751	T	0.34	-0.0367	1.9608	0.03386	0.3021:0.0904:0.3862:0.2213	.	369	Q96HM7	F113B_HUMAN	I	369	ENSP00000446688:V369I;ENSP00000396040:V369I	ENSP00000396040:V369I	V	+	1	0	FAM113B	45916218	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.435000	0.06931	-0.931000	0.03746	-0.256000	0.11100	GTC		0.527	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		A	47629951	G	A	47629951	3	1	75	1	0	0	0	0	1	0	0	0	5402	1145	40	1	1107	1	FAM113B	12	47629951	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	33040892	47629951	86221944	49	5020											
KRT84	3890	broad.mit.edu	37	chr12	52779219	52779219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgacactccgactacCaaagctgccaaggccccgga	11	5	11	14	2	0	2	0	2	0	0	1	4	1	3	5	3	3	1	5	3	3	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:52779219C>A	ENST00000257951.3	-	1	217	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	51	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCGACTACCAAAGCTGCCA	0.582																																						uc001sah.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(151-153)Ggt>Tgt		Homo sapiens keratin 84 (KRT84), mRNA.							74	79	77					12																	52779219		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52779219C>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.151G>T	12.37:g.52779219C>A	ENSP00000257951:p.Gly51Cys						p.G51C	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	0	199	-	all_hematologic(5;0.12)		51			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.151G>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250263	0.59212	.	.	ENSG00000161849	ENST00000257951	D	0.85556	-2.0	5.06	4.15	0.48705	.	0.143814	0.32563	N	0.005926	D	0.85847	0.5792	M	0.92970	3.365	0.37032	D	0.896722	B	0.25743	0.133	B	0.20384	0.029	D	0.85343	0.1097	10	0.49607	T	0.09	.	5.8773	0.18836	0.1692:0.6775:0.0:0.1532	.	51	Q9NSB2	KRT84_HUMAN	C	51	ENSP00000257951:G51C	ENSP00000257951:G51C	G	-	1	0	KRT84	51065486	0.988000	0.35896	0.995000	0.50966	0.853000	0.48598	1.575000	0.36493	1.470000	0.48102	0.543000	0.68304	GGT		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52779219	C	A	52779219	3	1	75	1	0	0	0	0	1	0	0	0	8498	594	21	5	1687	5	KRT84	12	52779219	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	5149268	52779219	81072676	50	5021											
KRT76	51350	broad.mit.edu	37	chr12	53164870	53164870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtagtcaCgcaggagccgagccaggtca	9	7	12	13	2	4	0	4	0	0	0	5	2	5	1	3	3	3	3	3	3	1	1	rs143394911	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:53164870C>T	ENST00000332411.2	-	7	1450	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	466	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGTAGTCACGCAGGAGCCG	0.602													C|||	5	0.000998403	0	0	5008	,	,		14974	0		0	False		,,,				2504	0.0051					uc001sax.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1396-1398)cGt>cAt		Homo sapiens keratin 76 (KRT76), mRNA.		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	118	107	111		1397	-0.6	0	12	dbSNP_134	111	0,8600		0,0,4300	yes	missense	KRT76	NM_015848.4	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	466/639	53164870	3,13003	2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53164870C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1397G>A	12.37:g.53164870C>T	ENSP00000330101:p.Arg466His						p.R466H	NM_015848	NP_056932	Q01546	K22O_HUMAN			6	1451	-			466			Coil 2.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1397G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.809933	0.70797	6.81E-4	0.0	ENSG00000185069	ENST00000332411	D	0.89810	-2.57	5.13	-0.635	0.11512	Filament (1);	0.188156	0.24917	N	0.034564	D	0.87474	0.6186	L	0.45137	1.4	0.18873	N	0.999981	D	0.54964	0.969	P	0.54210	0.745	T	0.81185	-0.1048	10	0.66056	D	0.02	.	10.2971	0.43631	0.0:0.4381:0.0:0.5619	.	466	Q01546	K22O_HUMAN	H	466	ENSP00000330101:R466H	ENSP00000330101:R466H	R	-	2	0	KRT76	51451137	0.000000	0.05858	0.040000	0.18447	0.999000	0.98932	0.217000	0.17603	-0.021000	0.14009	0.655000	0.94253	CGT		0.602	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		T	53164870	C	T	53164870	3	4	75	1	0	0	0	0	1	0	0	0	8489	536	19	1	531	1	KRT76	12	53164870	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	385651	53164870	80687025	51	5022											
MMAB	326625	broad.mit.edu	37	chr12	109994906	109994906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattcccctccttcatggctGcatatctggctagcgtgaag	7	12	10	12	1	2	1	1	1	1	0	4	2	4	1	3	2	2	3	3	2	3	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:109994906G>A	ENST00000545712.2	-	9	1073	c.680C>T	c.(679-681)gCa>gTa	p.A227V	MMAB_ENST00000540016.1_Missense_Mutation_p.A175V|MMAB_ENST00000266839.5_Missense_Mutation_p.A136V	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	227					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCATGGCTGCATATCTGGC	0.473																																						uc001tou.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(679-681)gCa>gTa		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						116	105	108					12																	109994906		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109994906G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.680C>T	12.37:g.109994906G>A	ENSP00000445920:p.Ala227Val					MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.A136V	p.A227V	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			8	753	-			227					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.680C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964472	0.34659	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.94897	-3.55;-3.55	5.43	1.6	0.23607	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.427611	0.26314	N	0.025093	D	0.88844	0.6547	L	0.50919	1.6	0.09310	N	1	B;B;B	0.28850	0.045;0.135;0.225	B;B;B	0.20955	0.032;0.032;0.025	T	0.74805	-0.3540	10	0.14656	T	0.56	-0.5587	7.9704	0.30124	0.3134:0.0:0.6866:0.0	.	136;227;227	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	V	227;136	ENSP00000445920:A227V;ENSP00000266839:A136V	ENSP00000266839:A136V	A	-	2	0	MMAB	108479289	0.484000	0.25964	0.006000	0.13384	0.783000	0.44284	2.273000	0.43381	0.272000	0.22027	0.561000	0.74099	GCA		0.473	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			A	109994906	G	A	109994906	3	1	75	1	0	0	0	0	1	0	0	0	9640	1319	46	3	76	3	MMAB	12	109994906	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	56830036	109994906	23856989	52	5023											
ZNF410	57862	broad.mit.edu	37	chr14	74360573	74360573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatcagaagctaaagataTtacttgcttgtccctccttc	12	13	6	10	0	1	3	1	0	0	3	4	3	3	3	2	0	3	2	2	0	6	6	rs201376759	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:74360573T>C	ENST00000555044.1	+	3	301	c.107T>C	c.(106-108)aTt>aCt	p.I36T	ZNF410_ENST00000324593.6_Missense_Mutation_p.I36T|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.I36T|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.I36T|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000556797.1_5'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTAAAGATATTACTTGCTTG	0.443																																						uc010arz.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(106-108)aTt>aCt		Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.							150	135	140					14																	74360573		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74360573T>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.107T>C	14.37:g.74360573T>C	ENSP00000451763:p.Ile36Thr					ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.I36T|ZNF410_uc001xpb.2_Missense_Mutation_p.I36T|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.I36T	p.I36T	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	2	557	+			36					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.107T>C	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394962	0.62066	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000556160;ENST00000554797	T;T;T;T	0.12147	2.71;2.76;2.72;2.72	5.78	4.62	0.57501	.	0.000000	0.43579	D	0.000546	T	0.11623	0.0283	N	0.24115	0.695	0.80722	D	1	B;P;B;P	0.48640	0.0;0.913;0.007;0.596	B;B;B;B	0.44278	0.0;0.445;0.005;0.108	T	0.05257	-1.0896	10	0.44086	T	0.13	.	12.0693	0.53607	0.0:0.0686:0.0:0.9314	.	36;36;36;36	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	T	36;36;43;36;36;36;36;36;36	ENSP00000442228:I36T;ENSP00000323293:I36T;ENSP00000407130:I36T;ENSP00000451763:I36T	ENSP00000323293:I36T	I	+	2	0	ZNF410	73430326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.902000	0.56310	2.198000	0.70561	0.528000	0.53228	ATT		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		C	74360573	T	C	74360573	3	2	75	1	0	0	0	0	1	0	0	0	17887	1493	52	4	113	4	ZNF410	14	74360573	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08		74360573	32988967	53	5024											
GPR65	8477	broad.mit.edu	37	chr14	88478073	88478073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtactgttttgtaacCgaaacaggaagatatgatat	14	14	8	5	1	1	2	0	1	1	1	1	4	1	3	1	1	3	3	1	1	6	7			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:88478073C>T	ENST00000267549.3	+	2	1440	c.882C>T	c.(880-882)acC>acT	p.T294T	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	294					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTTTTGTAACCGAAACAGGAA	0.353																																						uc021rxh.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(880-882)acC>acT		Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.							100	94	96					14																	88478073		2203	4300	6503	SO:0001819	synonymous_variant	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478073C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.882C>T	14.37:g.88478073C>T						GPR65_uc001xvv.3_Silent_p.T294T	p.T294T	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			0	882	+			294					O75819	Silent	SNP	ENST00000267549.3	37	c.882C>T	CCDS9879.1																																																																																				0.353	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			T	88478073	C	T	88478073	2	4	75	1	0	0	0	0	0	0	0	1	6706	639	23	2		2	GPR65	14	88478073	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	14117500	88478073	18871467	54	5025											
DICER1	23405	broad.mit.edu	37	chr14	95557393	95557393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatttggcagtttctggttCcatttcaagcaattctcgca	10	15	7	9	1	3	0	1	0	2	0	5	0	4	0	1	2	1	5	1	2	3	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:95557393C>T	ENST00000526495.1	-	28	5872	c.5581G>A	c.(5581-5583)Gaa>Aaa	p.E1861K	DICER1_ENST00000343455.3_Missense_Mutation_p.E1861K|DICER1_ENST00000556045.1_Missense_Mutation_p.E759K|DICER1_ENST00000393063.1_Missense_Mutation_p.E1861K|DICER1_ENST00000527414.1_Missense_Mutation_p.E1861K|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Nonsense_Mutation_p.W1806*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1861	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTGGTTCCATTTCAAGC	0.323			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5581-5583)Gaa>Aaa		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							59	55	56					14																	95557393		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557393C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5581G>A	14.37:g.95557393C>T	ENSP00000437256:p.Glu1861Lys					DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc021sbc.1_Nonsense_Mutation_p.W1806*|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	p.E1861K	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5793	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1861			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5581G>A	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.410973|12.410973	0.99665|0.99665	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045|ENST00000541352	T;T;T;T;T|.	0.62788|.	0.0;0.0;0.0;0.0;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Double-stranded RNA-binding (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77384|.	0.4122|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.354;0.997|.	B;D|.	0.72338|.	0.199;0.977|.	T|.	0.73820|.	-0.3862|.	9|.	0.07813|.	T|.	0.8|.	-26.1126|-26.1126	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	759;1861|.	B3KRG4;Q9UPY3|.	.;DICER_HUMAN|.	K|X	1861;1861;1861;1861;759|1806	ENSP00000343745:E1861K;ENSP00000437256:E1861K;ENSP00000376783:E1861K;ENSP00000435681:E1861K;ENSP00000451041:E759K|.	ENSP00000343745:E1861K|.	E|W	-|-	1|3	0|0	DICER1|DICER1	94627146|94627146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.348000|7.348000	0.79366|0.79366	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.323	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			T	95557393	C	T	95557393	3	4	75	1	0	0	0	0	1	0	0	0	4521	864	30	3	195	3	DICER1	14	95557393	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	7079320	95557393	11792147	55	5026											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164337	85164337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggatccacacgggggaaaAgcccttccagtgtgccgagt	10	6	14	11	2	0	0	0	0	0	0	2	4	2	2	4	3	2	0	4	3	2	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr15:85164337A>G	ENST00000448803.2	+	3	1203	c.911A>G	c.(910-912)aAg>aGg	p.K304R	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.K303R|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.K154R|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.K304R|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	304					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACGGGGGAAAAGCCCTTCCAG	0.577																																						uc002bkr.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(910-912)aAg>aGg		Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.							63	64	63					15																	85164337		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164337A>G	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.911A>G	15.37:g.85164337A>G	ENSP00000410198:p.Lys304Arg					ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.3_Missense_Mutation_p.K154R|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	p.K304R	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	2	1137	+			304					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.911A>G	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770827	0.49680	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.51	4.51	0.55191	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000014	T	0.29321	0.0730	N	0.16478	0.41	0.80722	D	1	D;P	0.62365	0.991;0.941	D;P	0.63113	0.911;0.708	T	0.04281	-1.0963	9	.	.	.	-36.3644	12.0575	0.53544	1.0:0.0:0.0:0.0	.	304;304	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	R	304;304;154;303;285	ENSP00000410198:K304R;ENSP00000445451:K304R;ENSP00000351257:K154R;ENSP00000325123:K303R	.	K	+	2	0	ZSCAN2	82965341	0.909000	0.30893	0.994000	0.49952	0.995000	0.86356	1.924000	0.40065	1.789000	0.52484	0.533000	0.62120	AAG		0.577	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		G	85164337	A	G	85164337	3	3	75	1	0	0	0	0	1	0	0	0	18228	72	3	4	1007	4	ZSCAN2	15	85164337	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08		85164337	17367055	56	5027											
PDZD9	255762	broad.mit.edu	37	chr16	21995750	21995750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcacttctttcttgtcGtctctgtgaatcatcacgtc	5	16	6	14	2	6	1	3	1	3	0	9	1	6	1	1	0	0	0	1	0	1	3	rs146108684	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:21995750G>A	ENST00000424898.2	-	4	695	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDZD9_ENST00000537222.2_Silent_p.D151D|PDZD9_ENST00000286143.6_Silent_p.D149D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	211										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CTTTCTTGTCGTCTCTGTGAA	0.423																																						uc021ter.1																			0		p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(451-453)gaC>gaT		Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.		G		1,4395	2.1+/-5.4	0,1,2197	240	220	227		453	-8.9	0	16	dbSNP_134	227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDZD9	NM_173806.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		151/205	21995750	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	255762							g.chr16:21995750G>A	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 65"	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.633C>T	16.37:g.21995750G>A						PDZD9_uc002dka.2_Silent_p.D149D	p.D151D	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN			2	516	-			211					F5GWW8	Silent	SNP	ENST00000424898.2	37	c.453C>T																																																																																					0.423	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		A	21995750	G	A	21995750	2	1	75	1	0	0	0	0	0	0	0	1	11706	1136	40	1		1	PDZD9	16	21995750	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		21995750	68359003	57	5028											
IL27	246778	broad.mit.edu	37	chr16	28515112	28515112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggcaggtgagattcCgcctggggggcaaggtctgt	6	9	16	10	1	1	1	0	1	1	1	3	2	3	1	3	6	0	2	3	6	1	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:28515112C>T	ENST00000356897.1	-	3	229	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632																																						uc002dqc.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(205-207)gcG>gcA		Homo sapiens interleukin 27 (IL27), mRNA.							32	35	34					16																	28515112		2197	4300	6497	SO:0001819	synonymous_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515112C>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"Interleukins and interleukin receptors"	19157	protein-coding gene	gene with protein product		608273	"interleukin 30"	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.207G>A	16.37:g.28515112C>T						NPIPL1_uc010vct.2_Intron	p.A69A	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			2	230	-			69					B1AM69	Silent	SNP	ENST00000356897.1	37	c.207G>A	CCDS10633.1																																																																																				0.632	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		T	28515112	C	T	28515112	2	4	75	1	0	0	0	0	0	0	0	1	7680	639	23	2		2	IL27	16	28515112	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	6519362	28515112	61839641	58	5029											
HEATR3	55027	broad.mit.edu	37	chr16	50106625	50106625	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctggctatttcagtaGgtaagtgaagaaaaggtgat	13	12	12	4	0	1	4	1	3	0	1	1	4	1	4	1	3	0	3	1	3	6	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:50106625G>A	ENST00000299192.7	+	5	813	c.622G>A	c.(622-624)Gca>Aca	p.A208T	HEATR3_ENST00000285767.4_Splice_Site_p.A122T	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	208										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATTTCAGTAGGTAAGTGAAG	0.348																																						uc002efw.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e5+1		Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.							176	161	166					16																	50106625		2198	4300	6498	SO:0001630	splice_region_variant	55027						binding	g.chr16:50106625G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.622+1G>A	16.37:g.50106625G>A						HEATR3_uc021thv.1_Splice_Site_p.A122_splice|HEATR3_uc002efx.3_Splice_Site_p.A122_splice	p.A208_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			5	784	+			208					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.622_splice	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279060	0.95489	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.68765	-0.35;-0.35	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.83074	-0.0141	10	0.54805	T	0.06	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	122;208	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	T	122;208	ENSP00000285767:A122T;ENSP00000299192:A208T	ENSP00000285767:A122T	A	+	1	0	HEATR3	48664126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.824000	0.97209	0.655000	0.94253	GCA		0.348	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Missense_Mutation	A	50106625	G	A	50106625	5	1	75	1	0	0	0	0	0	0	1	0	7029	1014	35	3	640	3	HEATR3	16	50106625	Splice_Site	SNP	G	TCGA-06-2557-01A-01D-1494-08	21591513	50106625	40248128	59	5030											
RABEP1	9135	broad.mit.edu	37	chr17	5286437	5286437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcagttagagcggatccgGcaagctgactccttggagag	9	8	15	9	2	0	3	0	1	0	2	2	5	2	4	2	3	3	4	2	3	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:5286437G>A	ENST00000546142.2	+	18	2695	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	RABEP1_ENST00000262477.6_Silent_p.R836R|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.R803R|RABEP1_ENST00000537505.1_Silent_p.R793R|RABEP1_ENST00000341923.6_Silent_p.R803R			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	836					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.R836R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCGGATCCGGCAAGCTGACT	0.473																																						uc002gbm.4																			1	Substitution - coding silent(1)	p.R836R(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2506-2508)cgG>cgA		Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.							70	75	74					17																	5286437		2154	4296	6450	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5286437G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2508G>A	17.37:g.5286437G>A						RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.4_Silent_p.R803R|NUP88_uc002gbn.3_Intron	p.R836R	NM_004703	NP_004694	Q15276	RABE1_HUMAN			17	2732	+			836					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.2508G>A	CCDS45592.1																																																																																				0.473	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		A	5286437	G	A	5286437	2	1	75	1	0	0	0	0	0	0	0	1	12961	1190	42	3		3	RABEP1	17	5286437	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		5286437	75908773	60	5031											
MYH13	8735	broad.mit.edu	37	chr17	10215363	10215363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaactcagcctggctttCgtccagcttttgcttccact	5	15	6	15	1	1	0	1	0	0	0	5	0	4	0	4	1	4	3	4	1	1	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:10215363C>T	ENST00000418404.3	-	31	4559	c.4396G>A	c.(4396-4398)Gaa>Aaa	p.E1466K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1466K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1466					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGGCTTTCGTCCAGCTTT	0.517																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4396-4398)Gaa>Aaa		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							71	70	71					17																	10215363		1984	4173	6157	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10215363C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4396G>A	17.37:g.10215363C>T	ENSP00000404570:p.Glu1466Lys						p.E1466K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			31	4486	-			1466					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4396G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008331	0.93346	.	.	ENSG00000006788	ENST00000252172	D	0.85861	-2.04	4.45	4.45	0.53987	Myosin tail (1);	.	.	.	.	D	0.93252	0.7850	M	0.89030	3	0.44627	D	0.997607	D	0.62365	0.991	D	0.70487	0.969	D	0.94317	0.7550	9	0.62326	D	0.03	.	17.6487	0.88157	0.0:1.0:0.0:0.0	.	1466	Q9UKX3	MYH13_HUMAN	K	1466	ENSP00000252172:E1466K	ENSP00000252172:E1466K	E	-	1	0	MYH13	10156088	1.000000	0.71417	0.065000	0.19835	0.950000	0.60333	5.893000	0.69798	2.465000	0.83290	0.655000	0.94253	GAA		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10215363	C	T	10215363	3	4	75	1	0	0	0	0	1	0	0	0	10032	893	31	2	1460	2	MYH13	17	10215363	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	4928926	10215363	70979847	61	5032											
ATG4D	84971	broad.mit.edu	37	chr19	10655709	10655709	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacttcccgccccttccTgggggctgcctgacctcgga	3	8	13	17	3	0	1	0	1	0	0	3	3	2	3	6	4	1	1	6	4	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:10655709T>G	ENST00000309469.4	+	3	569	c.396T>G	c.(394-396)ccT>ccG	p.P132P	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	132					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCCTTCCTGGGGGCTGCC	0.632																																						uc002mov.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(394-396)ccT>ccG		Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.							92	101	98					19																	10655709		2203	4299	6502	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10655709T>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.396T>G	19.37:g.10655709T>G						ATG4D_uc010xlg.2_Silent_p.P155P|ATG4D_uc010xlh.2_Silent_p.P69P|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	p.P132P	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		2	516	+			132					Q969K0	Silent	SNP	ENST00000309469.4	37	c.396T>G	CCDS12241.1																																																																																				0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		G	10655709	T	G	10655709	2	3	75	1	0	0	0	0	0	0	0	1	1099	1567	55	5		5	ATG4D	19	10655709	Silent	SNP	T	TCGA-06-2557-01A-01D-1494-08		10655709	48473274	62	5033											
ZNF208	7757	broad.mit.edu	37	chr19	22156647	22156647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattcttcacatttgtAgggtttctctccagtatgaa	9	15	7	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:22156647A>G	ENST00000397126.4	-	4	1337	c.1189T>C	c.(1189-1191)Tac>Cac	p.Y397H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACATTTGTAGGGTTTCTCT	0.388																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1189-1191)Tac>Cac		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							37	41	39					19																	22156647		1993	4212	6205	SO:0001583	missense	7757							g.chr19:22156647A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1189T>C	19.37:g.22156647A>G	ENSP00000380315:p.Tyr397His					ZNF208_uc002nqo.1_Intron	p.Y397H	NM_007153	NP_009084					3	1338	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1189T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134362	0.37630	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.21734	1.99	2.65	1.6	0.23607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.55260	0.772	T	0.10823	-1.0613	8	0.59425	D	0.04	.	6.2383	0.20776	0.8626:0.0:0.1374:0.0	.	397	O43345	ZN208_HUMAN	H	397	ENSP00000380315:Y397H	ENSP00000380315:Y397H	Y	-	1	0	ZNF208	21948487	0.002000	0.14202	0.026000	0.17262	0.010000	0.07245	0.890000	0.28295	0.030000	0.15379	0.254000	0.18369	TAC		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22156647	A	G	22156647	3	3	75	1	0	0	0	0	1	0	0	0	17763	420	15	4	2657	4	ZNF208	19	22156647	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	11500938	22156647	36972336	63	5034											
TRPM4	54795	broad.mit.edu	37	chr19	49671909	49671910	+	In_Frame_Ins	INS	-	-	GCA																															cttcttcctggtggacgacgINSgcacacacggctgcctgggg																										TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:49671909_49671910insGCA	ENST00000252826.5	+	6	838_839	c.712_713insGCA	c.(712-714)ggc>gGCAgc	p.238_239insS	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_In_Frame_Ins_p.238_239insS	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	238					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTGGACGACGGCACACACGGC	0.658																																						uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(712-714)ggc>gGCAgc		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671909_49671910insGCA	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.713_715dupGCA	19.37:g.49671910_49671912dupGCA	ENSP00000252826:p.Gly238_Thr239insSer					TRPM4_uc010emu.3_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.3_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.2_5'UTR	p.238_239insS	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	5	820_821	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	238					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	In_Frame_Ins	INS	ENST00000252826.5	37	c.712_713insGCA	CCDS33073.1																																																																																				0.658	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		GCA	49671910	-	GCA	49671909	7	5	75	1	0	1	1	0	0	0	0	0	16585	1116	39	0	734	0	TRPM4	19	49671909	In_Frame_Ins	INS	-	TCGA-06-2557-01A-01D-1494-08	27515262	49671909	9457074	64	5035											
LENG1	79165	broad.mit.edu	37	chr19	54660572	54660573	+	Frame_Shift_Del	DEL	TC	TC	-																															ccttcatcaccgccgtgctgTctcttcttccccagatgctt																										TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:54660572_54660573delTC	ENST00000222224.3	-	3	689_690	c.503_504delGA	c.(502-504)agafs	p.R168fs		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	168										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGTGCTGTCTCTTCTTCCC	0.634																																						uc002qdm.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8						c.(502-504)agafs		Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.																																				SO:0001589	frameshift_variant	79165							g.chr19:54660572_54660573delTC	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.503_504delGA	19.37:g.54660574_54660575delTC	ENSP00000222224:p.Arg168fs						p.R168fs	NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN			2	516_517	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		168					Q9HCU7	Frame_Shift_Del	DEL	ENST00000222224.3	37	c.503_504delGA	CCDS12881.1																																																																																				0.634	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		-	54660573	TC	-	54660572	7	5	75	1	0	1	0	1	0	0	0	0	8723	1664	58	0	298	0	LENG1	19	54660572	Frame_Shift_Del	DEL	TC	TCGA-06-2557-01A-01D-1494-08	4988663	54660572	4468411	65	5036											
NAPB	63908	broad.mit.edu	37	chr20	23383673	23383673	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatatttgcagctctggtAtacatttcacaagcctcttc	11	14	5	11	0	3	0	1	0	2	0	4	0	3	0	1	1	5	3	1	1	5	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:23383673A>T	ENST00000377026.4	-	2	220	c.135T>A	c.(133-135)taT>taA	p.Y45*	NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000432543.2_Nonsense_Mutation_p.Y45*|NAPB_ENST00000472855.1_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	45					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAGCTCTGGTATACATTTCAC	0.338																																						uc002wtb.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(133-135)taT>taA		Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.							103	95	98					20																	23383673		2202	4299	6501	SO:0001587	stop_gained	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23383673A>T	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.135T>A	20.37:g.23383673A>T	ENSP00000366225:p.Tyr45*					NAPB_uc002wta.3_Nonsense_Mutation_p.Y45*|NAPB_uc002wtc.3_5'UTR|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	p.Y45*	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			1	252	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		45					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Nonsense_Mutation	SNP	ENST00000377026.4	37	c.135T>A	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999196	0.93227	.	.	ENSG00000125814	ENST00000377026;ENST00000432543;ENST00000431864	.	.	.	5.95	1.27	0.21489	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4603	8.8924	0.35441	0.6186:0.0:0.3814:0.0	.	.	.	.	X	45;45;2	.	ENSP00000366225:Y45X	Y	-	3	2	NAPB	23331673	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.538000	0.36094	0.157000	0.19338	-0.290000	0.09829	TAT		0.338	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		T	23383673	A	T	23383673	4	4	75	1	0	0	0	0	0	1	0	0	10162	456	16	5	801	5	NAPB	20	23383673	Nonsense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08		23383673	39641847	66	5037											
MOCS3	8813	broad.mit.edu	37	chr20	49576077	49576077	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccccaaccacccccagCggagacagtgaccaactgcg	11	4	8	18	2	0	2	0	1	0	1	1	3	1	2	6	1	4	0	6	1	2	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:49576077C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Missense_Mutation_p.A233V|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CCACCCCCAGCGGAGACAGTG	0.622																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(697-699)gCg>gTg		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.							57	61	60					20																	49576077		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576077C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576077C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.A233V	NM_014484	NP_055299	O95396	MOCS3_HUMAN			0	715	+			233					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.698C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457704	0.63401	.	.	ENSG00000124217	ENST00000244051	T	0.31247	1.5	5.19	4.25	0.50352	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);MoeZ/MoeB (1);	0.249726	0.40064	N	0.001181	T	0.26557	0.0649	L	0.58583	1.82	0.24446	N	0.994502	P	0.43231	0.801	B	0.32677	0.15	T	0.14254	-1.0479	9	.	.	.	-8.1632	13.4415	0.61117	0.0:0.9243:0.0:0.0757	.	233	O95396	MOCS3_HUMAN	V	233	ENSP00000244051:A233V	.	A	+	2	0	MOCS3	49009484	0.993000	0.37304	0.982000	0.44146	0.925000	0.55904	5.446000	0.66600	1.173000	0.42796	0.561000	0.74099	GCG		0.622	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		T	49576077	C	T	49576077	1	4	75	0	1	0	0	0	0	0	0	0	9692	768	27	1		1	MOCS3	20	49576077	5'Flank	SNP	C	TCGA-06-2557-01A-01D-1494-08	26192404	49576077	13449443	67	5038											
PRDM15	63977	broad.mit.edu	37	chr21	43279747	43279747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgaccatgaccactgggcCcagctcgggacattcggagt	8	9	12	12	2	0	2	0	2	0	0	2	4	0	4	3	3	1	1	3	3	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr21:43279747C>T	ENST00000269844.3	-	9	1095	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PRDM15_ENST00000422911.1_Missense_Mutation_p.G66S|PRDM15_ENST00000447207.2_Missense_Mutation_p.G29S|PRDM15_ENST00000398548.1_Missense_Mutation_p.G66S|PRDM15_ENST00000538201.1_Missense_Mutation_p.G29S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACCACTGGGCCCAGCTCGGGA	0.597																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(985-987)Ggc>Agc		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							82	65	70					21																	43279747		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43279747C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.985G>A	21.37:g.43279747C>T	ENSP00000269844:p.Gly329Ser					PRDM15_uc002yzo.3_Missense_Mutation_p.G66S|PRDM15_uc002yzp.3_Missense_Mutation_p.G66S|PRDM15_uc002yzr.1_Missense_Mutation_p.G66S	p.G329S	NM_022115	NP_071398	P57071	PRD15_HUMAN			8	1096	-			329					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.985G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389119	0.95988	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.71	4.81	4.81	0.61882	.	.	.	.	.	T	0.78007	0.4216	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82131	-0.0609	9	0.87932	D	0	-19.3518	17.8732	0.88817	0.0:1.0:0.0:0.0	.	329;66;66	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	66;66;29;29;329;29	ENSP00000408592:G66S;ENSP00000381556:G66S;ENSP00000444044:G29S;ENSP00000390245:G29S;ENSP00000269844:G329S	ENSP00000269844:G329S	G	-	1	0	PRDM15	42152816	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.564000	0.82326	2.202000	0.70862	0.591000	0.81541	GGC		0.597	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		T	43279747	C	T	43279747	3	4	75	1	0	0	0	0	1	0	0	0	12456	623	22	3	3630	3	PRDM15	21	43279747	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		43279747	4850148	68	5039											
SEC14L3	266629	broad.mit.edu	37	chr22	30857619	30857619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatctgcaccgagtgctcGtactgagtcttcacctggtc	6	13	10	12	2	3	2	1	2	2	0	5	3	3	2	2	1	3	3	2	1	1	3	rs139964800	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr22:30857619G>A	ENST00000215812.4	-	10	924	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SEC14L3_ENST00000401751.1_Silent_p.Y219Y|SEC14L3_ENST00000540910.1_Silent_p.Y201Y|SEC14L3_ENST00000402286.1_Silent_p.Y201Y|SEC14L3_ENST00000403066.1_Silent_p.Y219Y|SEC14L3_ENST00000415957.2_Silent_p.Y219Y|SEC14L3_ENST00000539629.1_Silent_p.Y219Y	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	278	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGAGTGCTCGTACTGAGTCT	0.572													G|||	7	0.00139776	0	0	5008	,	,		17840	0		0.003	False		,,,				2504	0.0041				Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.3																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(832-834)taC>taT		Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	Vitamin E(DB00163)	G		2,4404	4.2+/-10.8	0,2,2201	113	94	101		834	-11.3	0.4	22	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SEC14L3	NM_174975.4		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		278/401	30857619	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857619G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.834C>T	22.37:g.30857619G>A						SEC14L3_uc003ahz.3_Silent_p.Y201Y|SEC14L3_uc003aia.3_Silent_p.Y219Y|SEC14L3_uc003aib.3_Silent_p.Y219Y	p.Y278Y	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			9	923	-			278			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.834C>T	CCDS13877.1																																																																																				0.572	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		A	30857619	G	A	30857619	2	1	75	1	0	0	0	0	0	0	0	1	13983	1140	40	1		1	SEC14L3	22	30857619	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		30857619	20446947	69	5040											
MAGEB6	158809	broad.mit.edu	37	chrX	26212711	26212711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggtggtggcctttggcGttgaattgaaagaaatggat	10	14	14	3	1	0	3	0	2	0	1	0	4	0	4	1	5	0	1	1	5	3	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chrX:26212711G>A	ENST00000379034.1	+	2	897	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	250	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCCTTTGGCGTTGAATTGAA	0.517																																						uc022buc.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(748-750)Gtt>Att		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							70	58	62					X																	26212711		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212711G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.748G>A	X.37:g.26212711G>A	ENSP00000368320:p.Val250Ile					MAGEB6_uc004dbr.3_Missense_Mutation_p.V250I	p.V250I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	748	+			250			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.748G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806476	0.31961	.	.	ENSG00000176746	ENST00000379034	T	0.04454	3.62	3.1	-0.926	0.10455	.	0.196337	0.33496	U	0.004859	T	0.02688	0.0081	N	0.11364	0.135	0.09310	N	1	D	0.57257	0.979	P	0.50405	0.64	T	0.41106	-0.9527	10	0.15066	T	0.55	.	1.9659	0.03396	0.1849:0.2948:0.3903:0.13	.	250	Q8N7X4	MAGB6_HUMAN	I	250	ENSP00000368320:V250I	ENSP00000368320:V250I	V	+	1	0	MAGEB6	26122632	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.854000	0.01664	-0.380000	0.07894	-0.223000	0.12442	GTT		0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212711	G	A	26212711	3	1	75	1	0	0	0	0	1	0	0	0	9179	1145	40	1	750	1	MAGEB6	23	26212711	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		26212711	129057849	70	5041											
AADACL4	343066	broad.mit.edu	37	chr1	12726621	12726621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaccagggggtccgcGtgacatggtaccacctgtat	8	8	15	10	2	0	1	0	1	0	0	1	3	1	3	4	5	1	2	4	5	2	2	rs374658772		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:12726621G>A	ENST00000376221.1	+	4	1099	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	367						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGGGTCCGCGTGACATGGTA	0.493																																						uc001auf.3																			0		p.R366P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1099-1101)Gtg>Atg		Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	88	90	89		1099	2.7	0	1		89	0,8600		0,0,4300	no	missense	AADACL4	NM_001013630.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	367/408	12726621	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726621G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1099G>A	1.37:g.12726621G>A	ENSP00000365395:p.Val367Met						p.V367M	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	1099	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	367						Missense_Mutation	SNP	ENST00000376221.1	37	c.1099G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814922	0.32053	2.27E-4	0.0	ENSG00000204518	ENST00000376221	T	0.18174	2.23	4.53	2.67	0.31697	Alpha/beta hydrolase fold-3 (1);	0.067238	0.64402	D	0.000018	T	0.55893	0.1949	H	0.98980	4.39	0.44149	D	0.996943	D	0.89917	1.0	D	0.80764	0.994	T	0.66240	-0.5973	10	0.72032	D	0.01	-35.3324	9.7469	0.40453	0.1679:0.0:0.8321:0.0	.	367	Q5VUY2	ADCL4_HUMAN	M	367	ENSP00000365395:V367M	ENSP00000365395:V367M	V	+	1	0	AADACL4	12649208	1.000000	0.71417	0.040000	0.18447	0.004000	0.04260	6.102000	0.71486	0.531000	0.28639	-0.136000	0.14681	GTG		0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		A	12726621	G	A	12726621	3	1	76	1	0	0	0	0	1	0	0	0	13	1145	40	1	1113	1	AADACL4	1	12726621	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		12726621	236524000	1	5042											
CNKSR1	10256	broad.mit.edu	37	chr1	26507045	26507045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgaggctctggctgtgCggtctctgggacaccaggag	5	8	16	12	2	2	0	0	0	2	0	4	3	2	2	2	5	1	2	2	5	0	0	rs201898585		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:26507045C>T	ENST00000374253.5	+	2	193	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R52W|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	52	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTGTGCGGTCTCTGGG	0.622																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(154-156)Cgg>Tgg		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.							58	63	61					1																	26507045		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507045C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.154C>T	1.37:g.26507045C>T	ENSP00000363371:p.Arg52Trp					CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.R52W	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	212	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	52			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.154C>T		.	.	.	.	.	.	.	.	.	.	C	9.409	1.080062	0.20309	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.50813	0.73;0.73	5.0	1.14	0.20703	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.469271	0.23063	N	0.052349	T	0.20170	0.0485	N	0.04297	-0.235	0.38278	D	0.942334	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.03840	-1.0999	10	0.33940	T	0.23	-1.1412	4.7109	0.12872	0.1658:0.4351:0.0:0.3991	.	52;52	Q969H4;Q53GM7	CNKR1_HUMAN;.	W	52	ENSP00000354609:R52W;ENSP00000363371:R52W	ENSP00000354609:R52W	R	+	1	2	CNKSR1	26379632	0.004000	0.15560	0.996000	0.52242	0.324000	0.28378	-0.911000	0.04050	0.027000	0.15297	-0.302000	0.09304	CGG		0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26507045	C	T	26507045	3	4	76	1	0	0	0	0	1	0	0	0	3606	759	27	1	160	1	CNKSR1	1	26507045	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	13780424	26507045	222743576	2	5043											
CYP4B1	1580	broad.mit.edu	37	chr1	47264924	47264924	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactggctttttggacaTgccctcgaggtatgtggagg	7	11	13	10	1	0	0	0	0	0	0	1	3	0	2	2	5	1	2	2	5	1	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:47264924T>C	ENST00000271153.4	+	1	207	c.171T>C	c.(169-171)caT>caC	p.H57H	CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371919.4_Silent_p.H57H|CYP4B1_ENST00000371923.4_Silent_p.H57H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	57					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTTTTGGACATGCCCTCGAGG	0.572																																						uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(169-171)caT>caC		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							31	28	29					1																	47264924		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47264924T>C	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.171T>C	1.37:g.47264924T>C						CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.H57H|CYP4B1_uc009vym.3_Silent_p.H57H|CYP4B1_uc010omk.2_5'UTR	p.H57H	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			0	255	+	Acute lymphoblastic leukemia(166;0.155)		57					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.171T>C	CCDS542.1																																																																																				0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		C	47264924	T	C	47264924	2	2	76	1	0	0	0	0	0	0	0	1	4185	1461	51	4		4	CYP4B1	1	47264924	Silent	SNP	T	TCGA-06-2558-01A-01D-1494-08	20757879	47264924	201985697	3	5044											
C1orf175	374977	broad.mit.edu	37	chr1	55166995	55166995	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccgcacttcagcgaCgtgaggacctcacagagcga	9	6	12	14	4	2	2	2	1	0	1	2	5	2	3	2	1	4	2	2	1	0	1	rs200991427		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:55166995C>T	ENST00000421030.2	+	19	3570	c.3285C>T	c.(3283-3285)gaC>gaT	p.D1095D	MROH7_ENST00000409996.1_Splice_Site_p.D663D|MROH7-TTC4_ENST00000414150.2_Splice_Site_p.D1095D|MROH7_ENST00000454855.2_Splice_Site_p.D613D	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1095						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACTTCAGCGACGTGAGGACCT	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		20612	0		0	False		,,,				2504	0					uc010ooe.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e19+1		Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.		C		0,4158		0,0,2079	42	44	43		3285	-5.2	0.9	1		43	2,8420		0,2,4209	yes	coding-synonymous-near-splice	HEATR8	NM_001039464.2		0,2,6288	TT,TC,CC		0.0237,0.0,0.0159		1095/1324	55166995	2,12578	2079	4211	6290	SO:0001630	splice_region_variant	374977					integral to membrane	binding	g.chr1:55166995C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3285+1C>T	1.37:g.55166995C>T						HEATR8_uc001cxq.3_Splice_Site|HEATR8_uc010ood.1_Splice_Site_p.D613_splice|HEATR8_uc001cxs.2_Splice_Site|HEATR8_uc010oof.1_Splice_Site|HEATR8_uc001cxr.1_Splice_Site|HEATR8_uc009vzq.1_Splice_Site|HEATR8_uc001cxt.1_Splice_Site|HEATR8_uc009vzr.1_Splice_Site_p.D297_splice	p.D1095_splice	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			19	3609	+			1095					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.3285_splice	CCDS41342.2																																																																																				0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	Silent	T	55166995	C	T	55166995	5	4	76	1	0	0	0	0	0	0	1	0	2016	550	19	1	3351	1	C1orf175	1	55166995	Splice_Site	SNP	C	TCGA-06-2558-01A-01D-1494-08	7902071	55166995	194083626	4	5045											
CD101	9398	broad.mit.edu	37	chr1	117552685	117552685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcttacgcagtatataCgcagcgggtgcgaagcggag	9	9	13	10	5	1	0	0	0	1	0	2	2	1	1	0	2	5	3	0	2	5	5	rs529866838		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:117552685C>T	ENST00000256652.4	+	2	315	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CD101_ENST00000369470.1_Missense_Mutation_p.T86M	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	86	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGTATATACGCAGCGGGTG	0.532																																						uc010oxb.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(256-258)aCg>aTg		Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.							98	86	90					1																	117552685		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552685C>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.257C>T	1.37:g.117552685C>T	ENSP00000256652:p.Thr86Met					CD101_uc009whd.3_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	p.T86M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			1	315	+			86			Ig-like C2-type 1.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.257C>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726376	0.30593	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.67865	-0.29;-0.29	5.79	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.875330	0.10072	N	0.719524	T	0.41488	0.1161	L	0.44542	1.39	0.09310	N	1	D	0.63046	0.992	P	0.45946	0.498	T	0.31475	-0.9942	10	0.59425	D	0.04	-1.5512	7.4719	0.27353	0.1113:0.3949:0.4253:0.0685	.	86	Q93033	IGSF2_HUMAN	M	86	ENSP00000256652:T86M;ENSP00000358482:T86M	ENSP00000256652:T86M	T	+	2	0	CD101	117354208	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.426000	0.21363	0.067000	0.16545	-2.232000	0.00291	ACG		0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		T	117552685	C	T	117552685	3	4	76	1	0	0	0	0	1	0	0	0	2962	536	19	1	263	1	CD101	1	117552685	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	62385690	117552685	131697936	5	5046											
ACP6	51205	broad.mit.edu	37	chr1	147119358	147119358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcagggcaacctctcGgcacctgctcctgcagaaga	9	6	10	16	1	2	2	1	0	1	2	4	2	3	2	4	2	3	4	4	2	2	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:147119358G>A	ENST00000369238.6	-	10	1601	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	385					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCAACCTCTCGGCACCTGCTC	0.522																																						uc001epr.2																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16						c.(1153-1155)cCg>cTg		Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.							72	68	69					1																	147119358		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147119358G>A	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1154C>T	1.37:g.147119358G>A	ENSP00000358241:p.Pro385Leu						p.P385L	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			9	1618	-	all_hematologic(923;0.0276)		385					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.1154C>T	CCDS928.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520108	0.00967	.	.	ENSG00000162836	ENST00000369238	T	0.34472	1.36	4.6	3.66	0.41972	.	0.261548	0.36134	N	0.002773	T	0.11495	0.0280	L	0.45137	1.4	0.22819	N	0.998692	B	0.18863	0.031	B	0.09377	0.004	T	0.06716	-1.0811	10	0.25106	T	0.35	.	6.8767	0.24151	0.2493:0.0:0.7507:0.0	.	385	Q9NPH0	PPA6_HUMAN	L	385	ENSP00000358241:P385L	ENSP00000358241:P385L	P	-	2	0	ACP6	145585982	0.991000	0.36638	0.941000	0.38009	0.042000	0.13812	2.704000	0.47118	2.284000	0.76573	0.563000	0.77884	CCG		0.522	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		A	147119358	G	A	147119358	3	1	76	1	0	0	0	0	1	0	0	0	165	1116	39	2	136	2	ACP6	1	147119358	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	29566673	147119358	102131263	6	5047											
AQP10	89872	broad.mit.edu	37	chr1	154295505	154295505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgtgcatcgttggaCgcctcccctgggtcaagctc	5	10	12	14	2	1	0	1	0	0	0	4	1	2	1	4	3	2	3	4	3	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154295505C>T	ENST00000324978.3	+	3	320	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.R94C	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	94					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTTGGACGCCTCCCCTG	0.527																																						uc001feu.3																			0		p.G93*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(280-282)Cgc>Tgc		Homo sapiens aquaporin 10 (AQP10), mRNA.							142	132	136					1																	154295505		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295505C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.280C>T	1.37:g.154295505C>T	ENSP00000318355:p.Arg94Cys					ATP8B2_uc001few.3_5'Flank	p.R94C	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	320	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		94					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.280C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862961	0.71949	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85773	-2.03;-2.03	5.04	4.12	0.48240	Aquaporin-like (2);	0.056466	0.64402	D	0.000002	D	0.87561	0.6208	M	0.71581	2.175	0.43390	D	0.9955	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.877	D	0.86768	0.1971	10	0.36615	T	0.2	.	12.7265	0.57174	0.0:0.9192:0.0:0.0808	.	94;94	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	C	94	ENSP00000318355:R94C;ENSP00000420341:R94C	ENSP00000318355:R94C	R	+	1	0	AQP10	152562129	0.000000	0.05858	0.996000	0.52242	0.947000	0.59692	0.067000	0.14510	1.364000	0.46038	0.555000	0.69702	CGC		0.527	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		T	154295505	C	T	154295505	3	4	76	1	0	0	0	0	1	0	0	0	822	536	19	1	290	1	AQP10	1	154295505	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	7176147	154295505	94955116	7	5048											
CAMK1G	57172	broad.mit.edu	37	chr1	209773439	209773439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagcagcctggagaatgaGattgctgtgttgaaaaagtg	13	9	14	5	0	0	3	0	2	0	2	0	6	0	3	1	1	3	3	1	1	3	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:209773439G>A	ENST00000009105.1	+	3	449	c.204G>A	c.(202-204)gaG>gaA	p.E68E	CAMK1G_ENST00000361322.2_Silent_p.E68E			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGAATGAGATTGCTGTGT	0.453																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.3																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(202-204)gaG>gaA		Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.							144	128	134					1																	209773439		2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209773439G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.204G>A	1.37:g.209773439G>A						CAMK1G_uc001hhf.4_Silent_p.E68E|CAMK1G_uc001hhe.3_Silent_p.E68E	p.E68E	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	2	306	+			68			Protein kinase.		Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.204G>A	CCDS1486.1																																																																																				0.453	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		A	209773439	G	A	209773439	2	1	76	1	0	0	0	0	0	0	0	1	2598	933	33	3		3	CAMK1G	1	209773439	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	55477934	209773439	39477182	8	5049											
GJC2	57165	broad.mit.edu	37	chr1	228345795	228345795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcaggagcggcgccgCgccctccgccgccgcccggg	3	3	16	19	8	1	1	0	1	1	0	2	2	2	2	6	3	2	1	6	3	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:228345795C>T	ENST00000366714.2	+	2	511	c.336C>T	c.(334-336)cgC>cgT	p.R112R		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	112					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				Agcggcgccgcgccctccgcc	0.766																																						uc021pkg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(334-336)cgC>cgT		Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.							9	8	8					1																	228345795		2140	4172	6312	SO:0001819	synonymous_variant	57165				cell death	connexon complex|integral to membrane		g.chr1:228345795C>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.336C>T	1.37:g.228345795C>T						GJC2_uc001hsk.3_Silent_p.R112R	p.R112R	NM_020435	NP_065168	Q5T442	CXG2_HUMAN			0	336	+		Prostate(94;0.0405)	112					O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	c.336C>T	CCDS1569.1																																																																																				0.766	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		T	228345795	C	T	228345795	2	4	76	1	0	0	0	0	0	0	0	1	6415	755	27	1		1	GJC2	1	228345795	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	18572356	228345795	20904826	9	5050											
OR2L8	391190	broad.mit.edu	37	chr1	248112821	248112821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcctatggccaggttcTctttgctgtctaccacatga	7	15	8	11	0	2	1	0	1	2	0	4	1	3	1	3	2	2	3	3	2	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:248112821T>C	ENST00000357191.3	+	1	662	c.662T>C	c.(661-663)cTc>cCc	p.L221P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCAGGTTCTCTTTGCTGTC	0.463																																						uc001idt.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(661-663)cTc>cCc		Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.							174	111	132					1																	248112821		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112821T>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.662T>C	1.37:g.248112821T>C	ENSP00000349719:p.Leu221Pro					OR2L13_uc001ids.3_Intron	p.L221P	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	662	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		221					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.662T>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	7.010	0.556532	0.13436	.	.	ENSG00000196936	ENST00000357191	T	0.00249	8.44	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.329841	0.16921	U	0.194073	T	0.00580	0.0019	M	0.91196	3.185	0.09310	N	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.38845	-0.9642	10	0.87932	D	0	.	5.7286	0.18026	0.0:0.0:0.2772:0.7228	.	221	Q8NGY9	OR2L8_HUMAN	P	221	ENSP00000349719:L221P	ENSP00000349719:L221P	L	+	2	0	OR2L8	246179444	0.005000	0.15991	0.161000	0.22692	0.157000	0.22087	1.583000	0.36579	0.837000	0.34925	0.397000	0.26171	CTC		0.463	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			C	248112821	T	C	248112821	3	2	76	1	0	0	0	0	1	0	0	0	11009	1551	54	4	664	4	OR2L8	1	248112821	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	19767026	248112821	1137800	10	5051											
TTC15	51112	broad.mit.edu	37	chr2	3482694	3482694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttaaggatggatccaaGaaacgcagtggtaagatccc	14	8	11	8	1	1	2	0	0	1	2	3	5	3	4	2	3	1	2	2	3	4	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:3482694G>T	ENST00000324266.5	+	11	2150	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I	TRAPPC12-AS1_ENST00000453806.1_RNA|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R652I	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	652					vesicle-mediated transport (GO:0016192)												ATGGATCCAAGAAACGCAGTG	0.532																																						uc002qxm.1																			0											c.(1954-1956)aGa>aTa		Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.							80	85	83					2																	3482694		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3482694G>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1955G>T	2.37:g.3482694G>T	ENSP00000324318:p.Arg652Ile					TRAPPC12_uc002qxn.1_Missense_Mutation_p.R652I|TRAPPC12_uc010ewm.1_Missense_Mutation_p.R658I	p.R652I	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN			10	2161	+			652					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1955G>T	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.027|0.027	-1.361027|-1.361027	0.01245|0.01245	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000416918;ENST00000452495|ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	.|T;T;T	.|0.59638	.|0.25;0.25;0.25	5.92|5.92	4.1|4.1	0.47936|0.47936	.|.	.|0.424132	.|0.29355	.|N	.|0.012382	T|T	0.40979|0.40979	0.1139|0.1139	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17667	.|0.023;0.005	.|B;B	.|0.22152	.|0.038;0.003	T|T	0.25363|0.25363	-1.0134|-1.0134	5|10	.|0.44086	.|T	.|0.13	.|.	16.7467|16.7467	0.85474|0.85474	0.0:0.636:0.364:0.0|0.0:0.636:0.364:0.0	.|.	.|641;652	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	N|I	38;53|652;641;652;151	.|ENSP00000371544:R652I;ENSP00000324318:R652I;ENSP00000396592:R151I	.|ENSP00000303612:R641I	K|R	+|+	3|2	2|0	TTC15|TTC15	3461701|3461701	0.585000|0.585000	0.26774|0.26774	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	2.600000|2.600000	0.46240|0.46240	0.403000|0.403000	0.25479|0.25479	-0.805000|-0.805000	0.03199|0.03199	AAG|AGA		0.532	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3482694	G	T	3482694	3	4	76	1	0	0	0	0	1	0	0	0	16679	942	33	5	1993	5	TTC15	2	3482694	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		3482694	239716679	11	5052											
RNF144A	9781	broad.mit.edu	37	chr2	7154885	7154885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattatgcaaagatataaaAagctacaatttgaaagaggt	21	10	7	3	0	0	3	0	1	0	2	0	3	0	3	0	1	3	2	0	1	10	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:7154885A>G	ENST00000320892.6	+	5	725	c.283A>G	c.(283-285)Aag>Gag	p.K95E	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	95					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAGATATAAAAAGCTACAATT	0.368																																						uc002qys.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(283-285)Aag>Gag		Homo sapiens ring finger protein 144A (RNF144A), mRNA.							110	114	113					2																	7154885		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7154885A>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.283A>G	2.37:g.7154885A>G	ENSP00000321330:p.Lys95Glu						p.K95E	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	4	725	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	95					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.283A>G	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227604	0.58668	.	.	ENSG00000151692	ENST00000320892;ENST00000427092	T	0.80566	-1.39	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	L	0.28556	0.865	0.54753	D	0.999984	B	0.33807	0.426	B	0.34652	0.187	T	0.67703	-0.5602	10	0.11794	T	0.64	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	95	P50876	R144A_HUMAN	E	95	ENSP00000321330:K95E	ENSP00000321330:K95E	K	+	1	0	RNF144A	7072336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.501000	0.73691	2.216000	0.71823	0.533000	0.62120	AAG		0.368	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		G	7154885	A	G	7154885	3	3	76	1	0	0	0	0	1	0	0	0	13445	15	1	4	293	4	RNF144A	2	7154885	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	3672191	7154885	236044488	12	5053											
THADA	63892	broad.mit.edu	37	chr2	43802136	43802136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctaagattctagaCagaaacatttccagcgttgg	13	10	10	8	1	1	3	0	0	1	3	2	4	2	4	1	2	3	2	1	2	3	5	rs548584846		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:43802136C>T	ENST00000405006.4	-	11	1419	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	THADA_ENST00000405975.2_Silent_p.L356L|THADA_ENST00000404790.1_Silent_p.L356L|THADA_ENST00000330266.7_Silent_p.L66L|THADA_ENST00000403856.1_Silent_p.L356L|THADA_ENST00000415080.2_Silent_p.L66L|THADA_ENST00000402360.2_Silent_p.L356L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	356										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGATTCTAGACAGAAACATTT	0.373																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1066-1068)ctG>ctA		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							118	114	116					2																	43802136		1821	4079	5900	SO:0001819	synonymous_variant	63892						binding	g.chr2:43802136C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1068G>A	2.37:g.43802136C>T						THADA_uc002rsx.4_Silent_p.L356L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.4_Silent_p.L356L|THADA_uc002rtd.3_Silent_p.L356L	p.L356L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			10	1420	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	356					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.1068G>A	CCDS46268.1																																																																																				0.373	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		T	43802136	C	T	43802136	2	4	76	1	0	0	0	0	0	0	0	1	15837	465	17	3		3	THADA	2	43802136	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	36647251	43802136	199397237	13	5054											
TTC30B	150737	broad.mit.edu	37	chr2	178416069	178416069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaccaatggcttctttgtAtttgttttcctgcatgaaca	10	16	7	8	0	1	1	0	1	1	0	2	2	2	1	2	1	3	4	2	1	4	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:178416069A>T	ENST00000408939.3	-	1	1673	c.1423T>A	c.(1423-1425)Tac>Aac	p.Y475N		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	475					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCTTTGTATTTGTTTTCC	0.393																																						uc002uln.3																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1423-1425)Tac>Aac		Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.							78	80	79					2																	178416069		2164	4256	6420	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416069A>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1423T>A	2.37:g.178416069A>T	ENSP00000386181:p.Tyr475Asn					TTC30B_uc010zfc.1_Missense_Mutation_p.Y247N	p.Y475N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		0	1456	-			475					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1423T>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340088	0.60963	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.68479	-0.33	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.87265	0.2282	10	0.87932	D	0	.	14.7035	0.69171	1.0:0.0:0.0:0.0	.	475	Q8N4P2	TT30B_HUMAN	N	428;475	ENSP00000386181:Y475N	ENSP00000386181:Y475N	Y	-	1	0	TTC30B	178124315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.255000	0.78338	2.125000	0.65367	0.533000	0.62120	TAC		0.393	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		T	178416069	A	T	178416069	3	4	76	1	0	0	0	0	1	0	0	0	16696	449	16	5	578	5	TTC30B	2	178416069	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	134613933	178416069	64783304	14	5055											
MYO1B	4430	broad.mit.edu	37	chr2	192265141	192265141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgggaactgaagcatcaaAagcgctgtaaggaagcagtc	14	6	13	8	2	1	1	1	1	0	0	2	3	1	3	0	2	5	4	0	2	6	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:192265141A>G	ENST00000392318.3	+	22	2576	c.2329A>G	c.(2329-2331)Aag>Gag	p.K777E	MYO1B_ENST00000304164.4_Missense_Mutation_p.K777E|MYO1B_ENST00000439065.2_Missense_Mutation_p.K51E|MYO1B_ENST00000392316.1_Missense_Mutation_p.K777E|MYO1B_ENST00000339514.4_Missense_Mutation_p.K777E	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	777	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAGCATCAAAAGCGCTGTAA	0.473																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2329-2331)Aag>Gag		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							99	100	99					2																	192265141		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192265141A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2329A>G	2.37:g.192265141A>G	ENSP00000376132:p.Lys777Glu					MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E	p.K777E	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		21	2584	+			777			IQ 3.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2329A>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753251	0.69648	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;D;D;T	0.88201	-2.3;-2.33;-2.33;-2.35;-0.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	N	0.08118	0	0.58432	D	0.999997	B;B;B	0.22746	0.002;0.074;0.023	B;B;B	0.20577	0.002;0.03;0.016	T	0.74472	-0.3654	10	0.30078	T	0.28	.	14.6294	0.68645	1.0:0.0:0.0:0.0	.	51;777;777	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	E	777;777;777;777;51	ENSP00000341903:K777E;ENSP00000376132:K777E;ENSP00000306382:K777E;ENSP00000376130:K777E;ENSP00000391442:K51E	ENSP00000306382:K777E	K	+	1	0	MYO1B	191973386	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.902000	0.92568	2.184000	0.69523	0.528000	0.53228	AAG		0.473	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		G	192265141	A	G	192265141	3	3	76	1	0	0	0	0	1	0	0	0	10069	15	1	4	2411	4	MYO1B	2	192265141	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13849072	192265141	50934232	15	5056											
DNAH7	56171	broad.mit.edu	37	chr2	196852773	196852773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatgattttctgcgaggaAgttatcaacatctcgctcag	11	13	8	9	2	4	1	2	1	2	0	5	3	4	2	0	1	2	2	0	1	4	4	rs374965359		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:196852773A>G	ENST00000312428.6	-	13	1634	c.1534T>C	c.(1534-1536)Ttc>Ctc	p.F512L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	512	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGCGAGGAAGTTATCAACA	0.338																																						uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1534-1536)Ttc>Ctc		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							110	99	102					2																	196852773		1820	4083	5903	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196852773A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1534T>C	2.37:g.196852773A>G	ENSP00000311273:p.Phe512Leu						p.F512L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			12	1635	-			512			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1534T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831417	0.50845	.	.	ENSG00000118997	ENST00000312428	T	0.24151	1.87	5.46	5.46	0.80206	.	0.067439	0.64402	D	0.000020	T	0.30355	0.0762	M	0.64567	1.98	0.80722	D	1	B	0.18166	0.026	B	0.19391	0.025	T	0.05115	-1.0905	10	0.49607	T	0.09	.	15.1954	0.73084	1.0:0.0:0.0:0.0	.	512	Q8WXX0	DYH7_HUMAN	L	512	ENSP00000311273:F512L	ENSP00000311273:F512L	F	-	1	0	DNAH7	196561018	1.000000	0.71417	0.490000	0.27465	0.579000	0.36224	5.713000	0.68415	2.076000	0.62316	0.528000	0.53228	TTC		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196852773	A	G	196852773	3	3	76	1	0	0	0	0	1	0	0	0	4606	72	3	4	10752	4	DNAH7	2	196852773	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	4587632	196852773	46346600	16	5057											
CXCR1	3577	broad.mit.edu	37	chr2	219029097	219029097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggccgatgttgttgcGgcgctcacagctctcctgga	4	9	14	14	4	2	0	1	0	1	0	3	2	2	1	3	4	2	4	3	4	0	2	rs61755739		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:219029097G>A	ENST00000295683.2	-	2	958	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	280					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	ATGTTGTTGCGGCGCTCACAG	0.572													G|||	1	0.000199681	0	0	5008	,	,		19235	0		0.001	False		,,,				2504	0					uc021vwq.1																			0		p.R279C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(838-840)Cgc>Tgc		Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.							76	74	75					2																	219029097		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029097G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.838C>T	2.37:g.219029097G>A	ENSP00000295683:p.Arg280Cys					CXCR1_uc002vhc.3_Missense_Mutation_p.R280C|HV303425_uc021vwr.1_5'Flank	p.R280C	NM_000634	NP_000625	P25024	CXCR1_HUMAN			0	838	-			280					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.838C>T	CCDS2409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.03	2.115151	0.37339	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.37411	1.2	4.89	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.054967	0.64402	D	0.000003	T	0.57636	0.2067	M	0.81942	2.565	0.54753	D	0.999985	D	0.76494	0.999	D	0.70487	0.969	T	0.62238	-0.6896	10	0.87932	D	0	.	10.0276	0.42081	0.0:0.1462:0.7038:0.15	rs61755739	280	P25024	CXCR1_HUMAN	C	280;224	ENSP00000295683:R280C	ENSP00000295683:R280C	R	-	1	0	CXCR1	218737342	0.513000	0.26194	0.970000	0.41538	0.130000	0.20726	1.176000	0.31957	2.406000	0.81754	0.561000	0.74099	CGC		0.572	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		A	219029097	G	A	219029097	3	1	76	1	0	0	0	0	1	0	0	0	4090	1116	39	2	218	2	CXCR1	2	219029097	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	22176324	219029097	24170276	17	5058											
TRIP12	9320	broad.mit.edu	37	chr2	230724206	230724206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtctttcttaggcacctgCcccgttttttgtctttctga	3	20	7	11	1	4	1	0	1	4	0	4	1	4	1	3	1	1	2	3	1	1	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:230724206C>T	ENST00000283943.5	-	3	361	c.183G>A	c.(181-183)ggG>ggA	p.G61G	TRIP12_ENST00000389044.4_Silent_p.G103G|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Silent_p.G103G|TRIP12_ENST00000409677.1_Silent_p.G103G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	61					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGGCACCTGCCCCGTTTTTT	0.453																																						uc002vpx.1																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(307-309)ggG>ggA		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							169	178	175					2																	230724206		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724206C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.183G>A	2.37:g.230724206C>T						TRIP12_uc021vxw.1_Silent_p.G61G|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Silent_p.G61G|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Silent_p.G61G	p.G103G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	418	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	61					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.309G>A	CCDS33391.1																																																																																				0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230724206	C	T	230724206	2	4	76	1	0	0	0	0	0	0	0	1	16553	726	26	3		3	TRIP12	2	230724206	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	11695109	230724206	12475167	18	5059											
RBMS3	27303	broad.mit.edu	37	chr3	30032579	30032579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgcctccttagggtgttGttgctgatacctctccccag	5	15	9	12	0	1	1	0	1	1	0	3	1	2	1	5	1	3	3	5	1	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:30032579G>T	ENST00000383767.2	+	14	1522	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	RBMS3_ENST00000456853.1_Missense_Mutation_p.V393F|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000273139.9_Missense_Mutation_p.V380F|RBMS3_ENST00000383766.2_Missense_Mutation_p.V378F|RBMS3_ENST00000396583.3_Missense_Mutation_p.V393F|RBMS3_ENST00000434693.2_Missense_Mutation_p.V395F|RBMS3_ENST00000452462.1_Missense_Mutation_p.V380F			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	396					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTAGGGTGTTGTTGCTGATAC	0.493																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1186-1188)Gtt>Ttt		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							197	164	176					3																	30032579		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032579G>T	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1186G>T	3.37:g.30032579G>T	ENSP00000373277:p.Val396Phe					RBMS3_uc010hfq.3_Missense_Mutation_p.V393F|RBMS3_uc003cek.3_Missense_Mutation_p.V380F|RBMS3_uc010hfr.3_Missense_Mutation_p.V380F|RBMS3_uc003cem.3_Missense_Mutation_p.V378F	p.V396F	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			13	1556	+		Ovarian(412;0.0956)	396					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1186G>T	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907561	0.92107	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.27104	1.69;1.7;1.7;1.7;1.85;1.7;1.71	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	N	0.08118	0	0.58432	D	0.999992	B;D;B;B	0.52996	0.052;0.957;0.132;0.081	B;P;B;B	0.52481	0.007;0.7;0.043;0.019	T	0.11012	-1.0605	9	.	.	.	.	18.9853	0.92767	0.0:0.0:1.0:0.0	.	380;393;378;396	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	F	395;393;396;380;378;380;393	ENSP00000395592:V395F;ENSP00000379828:V393F;ENSP00000373277:V396F;ENSP00000273139:V380F;ENSP00000373276:V378F;ENSP00000397926:V380F;ENSP00000400519:V393F	.	V	+	1	0	RBMS3	30007583	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.950000	0.93019	2.469000	0.83416	0.655000	0.94253	GTT		0.493	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		T	30032579	G	T	30032579	3	4	76	1	0	0	0	0	1	0	0	0	13150	1377	48	5	1283	5	RBMS3	3	30032579	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		30032579	167989851	19	5060											
CLASP2	23122	broad.mit.edu	37	chr3	33584995	33584995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagttagctggtgatcGtggtgttggtcttgtcaaag	7	13	15	6	1	2	1	1	1	1	0	3	2	2	2	1	4	1	3	1	4	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:33584995G>A	ENST00000468888.2	-	32	3404	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	CLASP2_ENST00000539981.1_Nonsense_Mutation_p.R889*|CLASP2_ENST00000480013.1_Nonsense_Mutation_p.R899*|CLASP2_ENST00000359576.5_Nonsense_Mutation_p.R1111*|CLASP2_ENST00000307312.7_Nonsense_Mutation_p.R601*|CLASP2_ENST00000461133.3_Nonsense_Mutation_p.R879*|CLASP2_ENST00000399362.4_Nonsense_Mutation_p.R1119*			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	900	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGGTGATCGTGGTGTTGGT	0.373																																						uc021wvc.1																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3358-3360)Cga>Tga		Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.							157	154	155					3																	33584995		1889	4125	6014	SO:0001587	stop_gained	23122							g.chr3:33584995G>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3358C>T	3.37:g.33584995G>A	ENSP00000419974:p.Arg1120*					CLASP2_uc003cfs.3_Nonsense_Mutation_p.R319*|CLASP2_uc021wva.1_Nonsense_Mutation_p.R194*|CLASP2_uc021wvb.1_Nonsense_Mutation_p.R899*|CLASP2_uc011axt.1_Nonsense_Mutation_p.R712*	p.R1120*	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			31	3569	-			1121					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Nonsense_Mutation	SNP	ENST00000468888.2	37	c.3358C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.695754|4.695754	0.88830|0.88830	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.054289|.	0.64402|.	D|.	0.000001|.	.|T	.|0.64994	.|0.2649	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69676	.|-0.5081	.|3	0.02654|.	T|.	1|.	-10.7607|-10.7607	13.4032|13.4032	0.60896|0.60896	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|.	.|.	.|.	X|M	1120;1119;1111;601;889;899;879|175	.|.	ENSP00000304743:R601X|.	R|T	-|-	1|2	2|0	CLASP2|CLASP2	33559999|33559999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.464000|3.464000	0.53057|0.53057	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	CGA|ACG		0.373	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33584995	G	A	33584995	4	1	76	1	0	0	0	0	0	1	0	0	3455	1153	40	1	1218	1	CLASP2	3	33584995	Nonsense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	3552416	33584995	164437435	20	5061											
STAB1	23166	broad.mit.edu	37	chr3	52550236	52550236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgagctgggccgctacGggcccaactgcaccggaggt	6	7	16	12	3	0	1	0	1	0	0	0	2	0	2	3	4	4	3	3	4	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:52550236G>A	ENST00000321725.6	+	38	4202	c.4126G>A	c.(4126-4128)Ggg>Agg	p.G1376R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1376	Laminin EGF-like 1. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCGCTACGGGCCCAACTG	0.697																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4126-4128)Ggg>Agg		Homo sapiens stabilin 1 (STAB1), mRNA.							29	28	29					3																	52550236		2203	4298	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52550236G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4126G>A	3.37:g.52550236G>A	ENSP00000312946:p.Gly1376Arg					STAB1_uc003dek.1_5'Flank	p.G1376R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	37	4200	+			1376			Laminin EGF-like 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4126G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141008	0.94560	.	.	ENSG00000010327	ENST00000321725	D	0.87650	-2.28	4.96	4.96	0.65561	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95704	0.8752	10	0.62326	D	0.03	.	18.1742	0.89756	0.0:0.0:1.0:0.0	.	1376	Q9NY15	STAB1_HUMAN	R	1376	ENSP00000312946:G1376R	ENSP00000312946:G1376R	G	+	1	0	STAB1	52525276	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.147000	0.94646	2.448000	0.82819	0.462000	0.41574	GGG		0.697	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52550236	G	A	52550236	3	1	76	1	0	0	0	0	1	0	0	0	15236	1116	39	2	4276	2	STAB1	3	52550236	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	18965241	52550236	145472194	21	5062											
FAM116A	201627	broad.mit.edu	37	chr3	57646541	57646541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccctggcactggggcAggccatcgatcaacatcatt	8	11	10	12	1	2	0	2	0	0	0	4	1	3	0	2	4	1	3	2	4	1	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:57646541A>G	ENST00000311128.5	-	7	715	c.645T>C	c.(643-645)ccT>ccC	p.P215P		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	215					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCACTGGGGCAGGCCATCGAT	0.303																																						uc003dja.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16						c.(643-645)ccT>ccC		Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.							42	42	42					3																	57646541		2203	4300	6503	SO:0001819	synonymous_variant	201627							g.chr3:57646541A>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.645T>C	3.37:g.57646541A>G							p.P215P	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	6	716	-			215					Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	c.645T>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	9.329	1.059936	0.19987	.	.	ENSG00000174839	ENST00000477344	.	.	.	5.02	2.59	0.31030	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26538	-1.0100	4	.	.	.	-23.5419	1.7881	0.03046	0.4611:0.2659:0.0841:0.189	.	.	.	.	R	5	.	.	C	-	1	0	FAM116A	57621581	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	0.878000	0.28126	0.255000	0.21593	0.377000	0.23210	TGC		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		G	57646541	A	G	57646541	2	3	76	1	0	0	0	0	0	0	0	1	5407	175	7	4		4	FAM116A	3	57646541	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	5096305	57646541	140375889	22	5063											
C3orf67	200844	broad.mit.edu	37	chr3	58739528	58739528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcacaggaatctggaCgctgctcagccggctgttga	9	10	11	11	2	3	1	2	1	1	0	3	3	3	3	1	3	3	4	1	3	2	2	rs139574013	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:58739528C>T	ENST00000482387.1	-	12	2021	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	C3orf67_ENST00000295966.7_Missense_Mutation_p.R516H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	642										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGAATCTGGACGCTGCTCAGC	0.388																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1546-1548)cGt>cAt		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.		C	HIS/ARG	0,4406		0,0,2203	54	56	56		1547	-3.5	0	3	dbSNP_134	56	5,8595	4.3+/-15.6	0,5,4295	yes	missense	C3orf67	NM_198463.2	29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	516/564	58739528	5,13001	2203	4300	6503	SO:0001583	missense	200844							g.chr3:58739528C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1925G>A	3.37:g.58739528C>T	ENSP00000417122:p.Arg642His					C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.R457H	p.R516H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	14	1956	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	508					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1547G>A		.	.	.	.	.	.	.	.	.	.	C	4.423	0.078220	0.08485	0.0	5.81E-4	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.19250	2.18;2.16	5.77	-3.52	0.04682	.	0.856700	0.10587	N	0.657161	T	0.04363	0.0120	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39014	-0.9634	10	0.02654	T	1	0.0948	3.3387	0.07110	0.1015:0.1929:0.1045:0.6011	.	516;642	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	H	516;642	ENSP00000295966:R516H;ENSP00000417122:R642H	ENSP00000295966:R516H	R	-	2	0	C3orf67	58714568	0.008000	0.16893	0.000000	0.03702	0.113000	0.19764	-0.113000	0.10774	-0.314000	0.08716	-1.154000	0.01816	CGT		0.388	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		T	58739528	C	T	58739528	3	4	76	1	0	0	0	0	1	0	0	0	2241	536	19	1	152	1	C3orf67	3	58739528	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	1092987	58739528	139282902	23	5064											
PPP4R2	151987	broad.mit.edu	37	chr3	73114106	73114106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcatgaggtaaaaagaCtcaggtttgacaaagaaggt	16	7	14	4	0	1	4	1	2	0	2	1	4	1	4	0	5	0	3	0	5	5	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:73114106C>T	ENST00000356692.5	+	8	995	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	PPP4R2_ENST00000394284.3_Missense_Mutation_p.L191F|PPP4R2_ENST00000295862.9_Missense_Mutation_p.L192F			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	248					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGTAAAAAGACTCAGGTTTGA	0.433																																						uc003dph.1																			0		p.R247T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(742-744)Ctc>Ttc		Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.							59	62	61					3																	73114106		2203	4300	6503	SO:0001583	missense	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114106C>T	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.742C>T	3.37:g.73114106C>T	ENSP00000349124:p.Leu248Phe					PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	p.L248F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	7	812	+		Prostate(10;0.0187)|Lung SC(41;0.236)	248					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	c.742C>T	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051330	0.75960	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000394284;ENST00000295862	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.29	4.4	0.53042	.	0.108374	0.64402	D	0.000004	T	0.65729	0.2719	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65109	-0.6248	10	0.42905	T	0.14	.	13.6742	0.62443	0.0:0.9255:0.0:0.0745	.	191;248	Q9NY27-2;Q9NY27	.;PP4R2_HUMAN	F	248;223;191;192	ENSP00000349124:L248F;ENSP00000418750:L223F;ENSP00000377825:L191F;ENSP00000295862:L192F	ENSP00000295862:L192F	L	+	1	0	PPP4R2	73196796	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.326000	0.65875	2.622000	0.88805	0.650000	0.86243	CTC		0.433	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		T	73114106	C	T	73114106	3	4	76	1	0	0	0	0	1	0	0	0	12404	565	20	3	772	3	PPP4R2	3	73114106	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	14374578	73114106	124908324	24	5065											
ABCC5	10057	broad.mit.edu	37	chr3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgtgatattgtccagaCgcttcagctcccgaatcagg	9	10	10	12	3	2	2	2	1	0	1	4	3	4	2	2	1	2	2	2	1	2	3	rs376038853		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATTGTCCAGACGCTTCAGCTC	0.562																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3121-3123)cGt>cAt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.		C	HIS/ARG	1,4213		0,1,2106	121	130	127		3122	4.9	1	3		127	1,8447		0,1,4223	no	missense	ABCC5	NM_005688.2	29	0,2,6329	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	1041/1438	183667646	2,12660	2107	4224	6331	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667646C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3122G>A	3.37:g.183667646C>T	ENSP00000333926:p.Arg1041His					ABCC5_uc011bqt.2_Missense_Mutation_p.R569H|ABCC5_uc010hxl.3_Intron	p.R1041H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3287	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1041			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3122G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003048	0.93287	2.37E-4	1.18E-4	ENSG00000114770	ENST00000334444	D	0.90444	-2.67	5.81	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047266	0.85682	N	0.000000	D	0.96623	0.8898	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97496	1.0057	10	0.66056	D	0.02	-8.3426	14.6272	0.68629	0.0:0.9305:0.0:0.0695	.	1041	O15440	MRP5_HUMAN	H	1041	ENSP00000333926:R1041H	ENSP00000333926:R1041H	R	-	2	0	ABCC5	185150340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.802000	0.85969	1.461000	0.47929	0.655000	0.94253	CGT		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		T	183667646	C	T	183667646	3	4	76	1	0	0	0	0	1	0	0	0	56	536	19	1	1227	1	ABCC5	3	183667646	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	110553540	183667646	14354784	25	5066											
HTR3E	285242	broad.mit.edu	37	chr3	183824315	183824315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcggaggcagagctgacagGgggctcagaatggacaaggg	11	4	19	7	1	1	3	1	1	0	2	1	5	1	5	0	6	2	3	0	6	2	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183824315G>T	ENST00000415389.2	+	9	1671	c.1205G>T	c.(1204-1206)gGg>gTg	p.G402V	HTR3E_ENST00000440596.2_Missense_Mutation_p.G428V|HTR3E_ENST00000425359.2_Missense_Mutation_p.G387V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.G402V|HTR3E_ENST00000335304.2_Missense_Mutation_p.G417V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	402					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GAGCTGACAGGGGGCTCAGAA	0.612																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			0		p.H428H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1282-1284)gGg>gTg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.							64	63	63					3																	183824315		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824315G>T	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1205G>T	3.37:g.183824315G>T	ENSP00000401444:p.Gly402Val					HTR3E_uc010hxq.3_Missense_Mutation_p.G402V|HTR3E_uc003fml.4_Missense_Mutation_p.G387V|HTR3E_uc003fmm.3_Missense_Mutation_p.G417V|HTR3E_uc003fmn.3_Missense_Mutation_p.G402V	p.G428V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	1477	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		402					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1283G>T	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	9.042	0.989941	0.18966	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	4.07	0.0322	0.14174	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.484720	0.05092	U	0.485475	T	0.81133	0.4759	L	0.49778	1.585	0.09310	N	1	B;B;P;B;B	0.36010	0.022;0.078;0.532;0.384;0.028	B;B;P;P;B	0.45681	0.024;0.376;0.49;0.49;0.258	T	0.64183	-0.6467	10	0.29301	T	0.29	.	3.0482	0.06160	0.3337:0.0:0.4752:0.191	.	428;402;402;417;387	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	402;387;417;402;428	ENSP00000401444:G402V;ENSP00000401900:G387V;ENSP00000335511:G417V;ENSP00000395833:G402V;ENSP00000406050:G428V	ENSP00000335511:G417V	G	+	2	0	HTR3E	185307009	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.362000	0.20284	-0.129000	0.11620	-0.126000	0.14955	GGG		0.612	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		T	183824315	G	T	183824315	3	4	76	1	0	0	0	0	1	0	0	0	7448	1232	43	5	1280	5	HTR3E	3	183824315	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	156669	183824315	14198115	26	5067											
RGS12	6002	broad.mit.edu	37	chr4	3427237	3427237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcccctatatcgagtcTggacggacagcgggttgtct	6	10	14	11	4	2	0	0	0	2	0	3	3	2	2	2	4	1	1	2	4	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:3427237T>G	ENST00000344733.5	+	14	4185	c.3281T>G	c.(3280-3282)cTg>cGg	p.L1094R	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.L1094R|RGS12_ENST00000306648.7_Missense_Mutation_p.L492R|RGS12_ENST00000382788.3_Missense_Mutation_p.L1094R|RGS12_ENST00000338806.4_Missense_Mutation_p.L446R|RGS12_ENST00000538395.1_Missense_Mutation_p.L436R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1094	RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATATCGAGTCTGGACGGACAG	0.572																																						uc003ggw.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3280-3282)cTg>cGg		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							131	140	137					4																	3427237		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3427237T>G	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3281T>G	4.37:g.3427237T>G	ENSP00000339381:p.Leu1094Arg					RGS12_uc003ggv.3_Missense_Mutation_p.L1094R|RGS12_uc003ggy.1_Missense_Mutation_p.L492R|RGS12_uc003ggz.3_Missense_Mutation_p.L446R|RGS12_uc010icu.1_Missense_Mutation_p.L293R|RGS12_uc011bvs.2_Missense_Mutation_p.L436R|RGS12_uc003gha.3_Missense_Mutation_p.L436R|RGS12_uc010icv.3_Missense_Mutation_p.L293R|RGS12_uc003ghb.2_Missense_Mutation_p.L293R	p.L1094R	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	4185	+			1094			RBD 2.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3281T>G	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.704090	0.68615	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.49432	1.09;1.09;1.09;0.8;0.78;0.83	4.76	4.76	0.60689	Raf-like Ras-binding (3);	0.000000	0.64402	D	0.000005	T	0.64360	0.2591	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	T	0.68070	-0.5506	10	0.87932	D	0	-19.2234	13.7417	0.62852	0.0:0.0:0.0:1.0	.	436;293;293;436;446;492;1094;1094	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	R	1094;1094;1094;492;446;436	ENSP00000339381:L1094R;ENSP00000338509:L1094R;ENSP00000372238:L1094R;ENSP00000304459:L492R;ENSP00000342133:L446R;ENSP00000438888:L436R	ENSP00000304459:L492R	L	+	2	0	RGS12	3397035	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.259000	0.78381	1.903000	0.55091	0.529000	0.55759	CTG		0.572	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		G	3427237	T	G	3427237	3	3	76	1	0	0	0	0	1	0	0	0	13295	1580	55	5	3389	5	RGS12	4	3427237	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		3427237	187727039	27	5068											
CLNK	116449	broad.mit.edu	37	chr4	10567771	10567771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggactgcagcaaagtttcTttcctaagcaggtggtaaca	12	10	10	9	0	1	0	0	0	1	0	2	1	2	1	1	3	4	5	1	3	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:10567771T>C	ENST00000226951.6	-	6	393	c.154A>G	c.(154-156)Aga>Gga	p.R52G	CLNK_ENST00000507719.1_Missense_Mutation_p.R10G|CLNK_ENST00000442825.2_Missense_Mutation_p.R10G	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	52					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GCAAAGTTTCTTTCCTAAGCA	0.458																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.4																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(154-156)Aga>Gga		Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.							144	142	143					4																	10567771		1982	4167	6149	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10567771T>C	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.154A>G	4.37:g.10567771T>C	ENSP00000226951:p.Arg52Gly					CLNK_uc003gmp.3_Missense_Mutation_p.R10G	p.R52G	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			5	291	-			52					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.154A>G	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666028	0.29604	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.54866	1.53;0.55;0.55	5.55	4.37	0.52481	.	1.505630	0.03782	N	0.261483	T	0.57140	0.2033	L	0.32530	0.975	0.09310	N	1	P;P	0.51351	0.944;0.919	P;P	0.52957	0.714;0.534	T	0.42396	-0.9454	10	0.72032	D	0.01	-5.5673	8.1528	0.31152	0.0:0.091:0.0:0.909	.	10;52	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	G	52;52;10;10	ENSP00000226951:R52G;ENSP00000390744:R10G;ENSP00000427208:R10G	ENSP00000226951:R52G	R	-	1	2	CLNK	10176869	0.490000	0.26012	0.015000	0.15790	0.023000	0.10783	1.377000	0.34317	0.950000	0.37743	0.477000	0.44152	AGA		0.458	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		C	10567771	T	C	10567771	3	2	76	1	0	0	0	0	1	0	0	0	3547	1617	56	4	1188	4	CLNK	4	10567771	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	7140534	10567771	180586505	28	5069											
CORIN	10699	broad.mit.edu	37	chr4	47625643	47625643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaatgaggacacagcCacagatatgtccactgggtt	11	9	11	10	0	0	2	0	1	0	1	1	3	1	3	2	3	1	2	2	3	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:47625643C>A	ENST00000273857.4	-	19	2484	c.2485G>T	c.(2485-2487)Ggc>Tgc	p.G829C	CORIN_ENST00000505909.1_Missense_Mutation_p.G792C|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.G762C|CORIN_ENST00000508498.1_Missense_Mutation_p.G690C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	829	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGACACAGCCACAGATATGT	0.527																																						uc003gxm.3																			0		p.G829G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2485-2487)Ggc>Tgc		Homo sapiens corin, serine peptidase (CORIN), mRNA.							106	103	104					4																	47625643		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47625643C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2485G>T	4.37:g.47625643C>A	ENSP00000273857:p.Gly829Cys					CORIN_uc011bzf.2_Missense_Mutation_p.G690C|CORIN_uc011bzg.2_Missense_Mutation_p.G762C	p.G829C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			18	2578	-			829			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2485G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887496	0.91814	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.14	5.14	0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99170	1.0864	10	0.87932	D	0	.	18.9577	0.92665	0.0:1.0:0.0:0.0	.	762;829	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	C	829;690;762;792	ENSP00000273857:G829C;ENSP00000425597:G690C;ENSP00000424212:G762C;ENSP00000425401:G792C	ENSP00000273857:G829C	G	-	1	0	CORIN	47320400	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.217000	0.77982	2.539000	0.85634	0.585000	0.79938	GGC		0.527	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			A	47625643	C	A	47625643	3	1	76	1	0	0	0	0	1	0	0	0	3752	594	21	5	659	5	CORIN	4	47625643	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	37057872	47625643	143528633	29	5070											
PDHA2	5161	broad.mit.edu	37	chr4	96761557	96761557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacaaacagaaattcattCgcggtttctgtcacctgtgc	10	13	8	10	2	3	1	2	0	1	1	4	1	3	1	1	1	3	2	1	1	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:96761557C>T	ENST00000295266.4	+	1	319	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	86					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R86C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GAAATTCATTCGCGGTTTCTG	0.517																																						uc003htr.4																			1	Substitution - Missense(1)	p.R86C(2)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(256-258)Cgc>Tgc		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						115	101	105					4																	96761557		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761557C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.256C>T	4.37:g.96761557C>T	ENSP00000295266:p.Arg86Cys						p.R86C	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	319	+		Hepatocellular(203;0.114)	86					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.256C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128171	0.56721	.	.	ENSG00000163114	ENST00000295266	D	0.97752	-4.52	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	10	0.87932	D	0	-15.3125	6.3783	0.21519	0.1805:0.7274:0.0:0.092	.	86	P29803	ODPAT_HUMAN	C	86	ENSP00000295266:R86C	ENSP00000295266:R86C	R	+	1	0	PDHA2	96980580	0.942000	0.31987	0.156000	0.22583	0.585000	0.36419	1.969000	0.40510	1.456000	0.47831	0.467000	0.42956	CGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			T	96761557	C	T	96761557	3	4	76	1	0	0	0	0	1	0	0	0	11665	884	31	2	258	2	PDHA2	4	96761557	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	49135914	96761557	94392719	30	5071											
ENPEP	2028	broad.mit.edu	37	chr4	111464226	111464226	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttttgccttggcaaGgtgcgttttagaatgagact	8	15	12	6	1	0	3	0	2	0	2	0	4	0	3	1	2	3	3	1	2	3	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:111464226G>T	ENST00000265162.5	+	13	2342	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	667					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCCTTGGCAAGGTGCGTTTTA	0.328																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e13+1		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						132	130	130					4																	111464226		2203	4300	6503	SO:0001630	splice_region_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111464226G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2000+1G>T	4.37:g.111464226G>T							p.R667_splice	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	13	2342	+		Hepatocellular(203;0.217)	667					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2000_splice	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855297	0.91355	.	.	ENSG00000138792	ENST00000265162	T	0.08807	3.05	5.17	5.17	0.71159	.	0.044333	0.85682	N	0.000000	T	0.28699	0.0711	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	D	0.65140	0.932	T	0.01027	-1.1476	10	0.39692	T	0.17	.	18.6652	0.91488	0.0:0.0:1.0:0.0	.	667	Q07075	AMPE_HUMAN	I	667	ENSP00000265162:R667I	ENSP00000265162:R667I	R	+	2	0	ENPEP	111683675	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.612000	0.67681	2.412000	0.81896	0.655000	0.94253	AGA		0.328	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		Missense_Mutation	T	111464226	G	T	111464226	5	4	76	1	0	0	0	0	0	0	1	0	5128	1014	35	5	2050	5	ENPEP	4	111464226	Splice_Site	SNP	G	TCGA-06-2558-01A-01D-1494-08	14702669	111464226	79690050	31	5072											
BRIX1	55299	broad.mit.edu	37	chr5	34924991	34924991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcttgtagaaataggacctCgttttgtcttaaatctcata	11	16	6	8	1	3	1	1	0	3	1	5	2	3	2	1	1	0	2	1	1	6	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:34924991C>G	ENST00000336767.5	+	9	1066	c.703C>G	c.(703-705)Cgt>Ggt	p.R235G	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	235	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AATAGGACCTCGTTTTGTCTT	0.358																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(703-705)Cgt>Ggt		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							94	95	94					5																	34924991		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34924991C>G		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.703C>G	5.37:g.34924991C>G	ENSP00000338862:p.Arg235Gly						p.R235G	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN			8	727	+			235			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.703C>G	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566373	0.86439	.	.	ENSG00000113460	ENST00000336767	T	0.35048	1.33	5.6	5.6	0.85130	Brix domain (3);Anticodon-binding (1);	0.046970	0.85682	D	0.000000	T	0.72637	0.3485	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80725	-0.1254	10	0.87932	D	0	-2.5016	19.5989	0.95551	0.0:1.0:0.0:0.0	.	235	Q8TDN6	BRX1_HUMAN	G	235	ENSP00000338862:R235G	ENSP00000338862:R235G	R	+	1	0	BRIX1	34960748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.301000	0.78850	2.634000	0.89283	0.655000	0.94253	CGT		0.358	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		G	34924991	C	G	34924991	3	3	76	1	0	0	0	0	1	0	0	0	1515	884	31	5	737	5	BRIX1	5	34924991	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		34924991	145990269	32	5073											
CHSY3	337876	broad.mit.edu	37	chr5	129244015	129244015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagtaggaagatgcgttCgccgttttggtgggactcag	8	11	16	6	3	1	1	1	0	0	1	2	4	1	4	1	4	1	3	1	4	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:129244015C>T	ENST00000305031.4	+	2	1406	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	350					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1048-1050)Cgc>Tgc		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							167	143	151					5																	129244015		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129244015C>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1048C>T	5.37:g.129244015C>T	ENSP00000302629:p.Arg350Cys						p.R350C	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	1048	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	350					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1048C>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874556	0.72180	.	.	ENSG00000198108	ENST00000305031	T	0.17370	2.28	4.55	4.55	0.56014	.	0.000000	0.38381	N	0.001706	T	0.42063	0.1186	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.15350	-1.0440	9	.	.	.	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	350	Q70JA7	CHSS3_HUMAN	C	350	ENSP00000302629:R350C	.	R	+	1	0	CHSY3	129271914	0.902000	0.30710	1.000000	0.80357	0.993000	0.82548	1.843000	0.39259	2.807000	0.96579	0.591000	0.81541	CGC		0.438	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		T	129244015	C	T	129244015	3	4	76	1	0	0	0	0	1	0	0	0	3413	884	31	2	1054	2	CHSY3	5	129244015	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	94319024	129244015	51671245	33	5074											
CSNK1A1	1452	broad.mit.edu	37	chr5	148929730	148929730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccttctgagattctagCttcactgccacttcctgcag	6	13	8	14	0	3	1	1	1	2	1	4	2	4	1	3	1	3	2	3	1	1	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:148929730C>T	ENST00000377843.2	-	2	617	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CSNK1A1_ENST00000515768.1_Silent_p.K46K|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515748.2_Silent_p.K46K|CSNK1A1_ENST00000261798.5_Silent_p.K46K|CSNK1A1_ENST00000504676.1_5'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAGATTCTAGCTTCACTGCCA	0.502																																					Colon(5;64 69 1309 10383)	uc003lqw.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(136-138)aaG>aaA		Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.							105	111	109					5																	148929730		2184	4299	6483	SO:0001819	synonymous_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148929730C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.138G>A	5.37:g.148929730C>T						CSNK1A1_uc011dcc.2_5'UTR|CSNK1A1_uc003lqx.1_Silent_p.K46K|CSNK1A1_uc003lqy.1_Silent_p.K46K|CSNK1A1_uc010jha.1_Silent_p.K46K	p.K46K	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	1	618	-			46			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	ENST00000377843.2	37	c.138G>A	CCDS47303.1																																																																																				0.502	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		T	148929730	C	T	148929730	2	4	76	1	0	0	0	0	0	0	0	1	3950	796	28	3		3	CSNK1A1	5	148929730	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	19685715	148929730	31985530	34	5075											
DSP	1832	broad.mit.edu	37	chr6	7569463	7569463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcctgaaggacaacaaCgagcgcagcaagtggtacgt	13	7	12	9	3	0	1	0	1	0	0	1	3	1	2	1	2	5	4	1	2	6	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:7569463C>T	ENST00000379802.3	+	12	1805	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	DSP_ENST00000418664.2_Silent_p.N488N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	488	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGACAACAACGAGCGCAGCA	0.527																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1462-1464)aaC>aaT		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							160	130	140					6																	7569463		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569463C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1464C>T	6.37:g.7569463C>T						DSP_uc003mxq.1_Silent_p.N488N|DSP_uc021yle.1_Silent_p.N488N	p.N488N	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	11	1743	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	488			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1464C>T	CCDS4501.1																																																																																				0.527	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7569463	C	T	7569463	2	4	76	1	0	0	0	0	0	0	0	1	4781	535	19	1		1	DSP	6	7569463	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		7569463	163545604	35	5076											
SRPK1	6732	broad.mit.edu	37	chr6	35855829	35855829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccggatttcatctagtGctgtttcagtgtaatgttca	9	15	9	8	1	4	0	3	0	1	0	4	1	4	1	1	1	2	5	1	1	3	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:35855829G>C	ENST00000373825.2	-	5	647	c.362C>G	c.(361-363)gCa>gGa	p.A121G	SRPK1_ENST00000373822.1_Missense_Mutation_p.A14G|SRPK1_ENST00000423325.2_Missense_Mutation_p.A105G|SRPK1_ENST00000373821.2_5'UTR					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCATCTAGTGCTGTTTCAGT	0.338																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.3																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(361-363)gCa>gGa		Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.							83	77	79					6																	35855829		1831	4078	5909	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35855829G>C	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.362C>G	6.37:g.35855829G>C	ENSP00000362931:p.Ala121Gly					SRPK1_uc003olh.3_Missense_Mutation_p.A14G|SRPK1_uc003oli.3_Missense_Mutation_p.A14G|SRPK1_uc011dtg.2_Missense_Mutation_p.A105G	p.A121G	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			4	486	-			121			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.362C>G	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956901	0.92726	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000512445	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.34019	0.0883	L	0.48986	1.54	0.80722	D	1	P;D	0.76494	0.79;0.999	P;D	0.91635	0.758;0.999	T	0.06899	-1.0801	9	0.87932	D	0	-11.509	17.2322	0.86988	0.0:0.0:1.0:0.0	.	105;121	B4DS61;Q96SB4	.;SRPK1_HUMAN	G	121;137;105;14;137	ENSP00000362931:A121G;ENSP00000354674:A137G;ENSP00000391069:A105G;ENSP00000362928:A14G;ENSP00000424068:A137G	ENSP00000354674:A137G	A	-	2	0	SRPK1	35963807	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	9.569000	0.98170	2.599000	0.87857	0.655000	0.94253	GCA		0.338	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		C	35855829	G	C	35855829	3	2	76	1	0	0	0	0	1	0	0	0	15158	1319	46	5	1653	5	SRPK1	6	35855829	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	28286366	35855829	135259238	36	5077											
CDKN1A	1026	broad.mit.edu	37	chr6	36652137	36652137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggggccccggcgaggccggGatgagttgggaggaggcagg	6	3	23	9	4	0	1	0	1	0	0	0	5	0	4	3	9	0	2	3	9	0	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:36652137G>A	ENST00000405375.1	+	2	494	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CDKN1A_ENST00000373711.2_Missense_Mutation_p.D87N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D121N|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D87N|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	87					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCGAGGCCGGGATGAGTTGGG	0.657																																						uc021yzb.1																			0		p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(259-261)Gat>Aat		Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.							26	27	27					6																	36652137		2202	4299	6501	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652137G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.259G>A	6.37:g.36652137G>A	ENSP00000384849:p.Asp87Asn					CDKN1A_uc021yzc.1_Missense_Mutation_p.D87N|CDKN1A_uc011dtq.2_Missense_Mutation_p.D121N|CDKN1A_uc003omm.4_Missense_Mutation_p.D87N|CDKN1A_uc003omn.3_Missense_Mutation_p.D87N	p.D87N	NM_078467	NP_510867	P38936	CDN1A_HUMAN			2	361	+			87					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.259G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	3.529	-0.096060	0.07010	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.16	5.16	0.70880	.	0.330750	0.26013	N	0.026861	T	0.35451	0.0932	L	0.36672	1.1	0.09310	N	0.999993	B;B;B	0.33528	0.416;0.2;0.2	B;B;B	0.28385	0.089;0.055;0.055	T	0.13710	-1.0499	10	0.17369	T	0.5	-9.4053	14.0264	0.64588	0.0:0.0:1.0:0.0	.	121;87;87	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	N	121;87;87;87	ENSP00000409259:D121N;ENSP00000244741:D87N;ENSP00000384849:D87N;ENSP00000362815:D87N	ENSP00000244741:D87N	D	+	1	0	CDKN1A	36760115	0.265000	0.24102	0.042000	0.18584	0.008000	0.06430	1.838000	0.39211	2.689000	0.91719	0.511000	0.50034	GAT		0.657	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		A	36652137	G	A	36652137	3	1	76	1	0	0	0	0	1	0	0	0	3158	1174	41	3	261	3	CDKN1A	6	36652137	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	796308	36652137	134462930	37	5078											
PKHD1	5314	broad.mit.edu	37	chr6	51910848	51910848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgagtggaccaggacaagGtccacacgtgttcgtagcaa	11	8	12	10	2	1	1	0	1	1	0	3	3	2	3	2	3	1	3	2	3	3	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:51910848G>T	ENST00000371117.3	-	24	2821	c.2546C>A	c.(2545-2547)aCc>aAc	p.T849N	PKHD1_ENST00000340994.4_Missense_Mutation_p.T849N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	849					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGGACAAGGTCCACACGTG	0.463																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2545-2547)aCc>aAc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							131	110	117					6																	51910848		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51910848G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2546C>A	6.37:g.51910848G>T	ENSP00000360158:p.Thr849Asn					PKHD1_uc003pai.3_Missense_Mutation_p.T849N	p.T849N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			23	2822	-	Lung NSC(77;0.0605)		849					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2546C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292107	0.59976	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87887	-2.11;-2.31	6.02	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.62723	1.935	0.32579	N	0.52876	D;D	0.89917	0.998;1.0	D;D	0.85130	0.971;0.997	D	0.85126	0.0972	10	0.15952	T	0.53	.	14.9552	0.71107	0.0:0.1436:0.8564:0.0	.	849;849	P08F94-2;P08F94	.;PKHD1_HUMAN	N	849	ENSP00000360158:T849N;ENSP00000341097:T849N	ENSP00000341097:T849N	T	-	2	0	PKHD1	52018807	1.000000	0.71417	0.914000	0.36105	0.690000	0.40134	6.303000	0.72794	1.521000	0.48983	0.655000	0.94253	ACC		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51910848	G	T	51910848	3	4	76	1	0	0	0	0	1	0	0	0	11971	1261	44	5	9893	5	PKHD1	6	51910848	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	15258711	51910848	119204219	38	5079											
HCRTR2	3062	broad.mit.edu	37	chr6	55113582	55113582	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagacctggttttttggAcagtccctttgcaaagtgat	9	14	10	8	0	0	2	0	2	0	1	1	4	1	3	2	2	1	2	2	2	1	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:55113582A>G	ENST00000370862.3	+	2	705	c.369A>G	c.(367-369)ggA>ggG	p.G123G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	123					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTTTTTTGGACAGTCCCTTT	0.428																																						uc003pcl.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(367-369)ggA>ggG		Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.							255	237	243					6																	55113582		2203	4299	6502	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113582A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.369A>G	6.37:g.55113582A>G						HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.G58G	p.G123G	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	684	+	Lung NSC(77;0.107)|Renal(3;0.122)		123					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.369A>G	CCDS4956.1																																																																																				0.428	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			G	55113582	A	G	55113582	2	3	76	1	0	0	0	0	0	0	0	1	7002	262	10	4		4	HCRTR2	6	55113582	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	3202734	55113582	116001485	39	5080											
SYNE1	23345	broad.mit.edu	37	chr6	152652051	152652051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaactctcattcattaggTtgatttcaggaaatgtaaca	14	13	7	7	0	3	2	3	1	1	1	4	3	3	3	0	2	2	2	0	2	4	5	rs199827801		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:152652051T>C	ENST00000367255.5	-	78	14370	c.13769A>G	c.(13768-13770)aAc>aGc	p.N4590S	SYNE1_ENST00000423061.1_Missense_Mutation_p.N4519S|SYNE1_ENST00000341594.5_Missense_Mutation_p.N4337S|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4519S|SYNE1_ENST00000265368.4_Missense_Mutation_p.N4590S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4590					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCATTAGGTTGATTTCAGG	0.353										HNSCC(10;0.0054)			T|||	1	0.000199681	0	0	5008	,	,		22813	0.001		0	False		,,,				2504	0					uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13768-13770)aAc>aGc		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							173	178	177					6																	152652051		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652051T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13769A>G	6.37:g.152652051T>C	ENSP00000356224:p.Asn4590Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.N4519S|SYNE1_uc003qou.4_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.3_Missense_Mutation_p.N345S	p.N4590S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	75	13992	-		Ovarian(120;0.0955)	4590					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13769A>G	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	14.03	2.415275	0.42817	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51071	1.44;1.44;1.44;1.44;0.72	5.93	3.54	0.40534	.	0.080125	0.52532	N	0.000066	T	0.45115	0.1326	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	D;D;D;D	0.70935	0.971;0.931;0.931;0.969	T	0.50701	-0.8797	10	0.10636	T	0.68	.	10.1988	0.43071	0.0:0.1341:0.0:0.8659	.	4590;4590;4590;4519	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4590;4519;4590;4519;4337	ENSP00000356224:N4590S;ENSP00000396024:N4519S;ENSP00000265368:N4590S;ENSP00000390975:N4519S;ENSP00000341887:N4337S	ENSP00000265368:N4590S	N	-	2	0	SYNE1	152693744	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.532000	0.53553	0.497000	0.27926	0.533000	0.62120	AAC		0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152652051	T	C	152652051	3	2	76	1	0	0	0	0	1	0	0	0	15442	1725	60	4	12973	4	SYNE1	6	152652051	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	97538469	152652051	18463016	40	5081											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126052	31126052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtgttgtgtccaactacTtctggctgttcatcgagggc	6	14	11	10	1	2	0	1	0	1	0	4	1	3	0	1	2	2	3	1	2	2	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:31126052T>A	ENST00000304166.4	+	10	1013	c.724T>A	c.(724-726)Ttc>Atc	p.F242I	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.F221I|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.F242I|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.F242I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	242					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCCAACTACTTCTGGCTGTT	0.542																																					Ovarian(44;225 1186 2158 11092)	uc003tca.2																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(724-726)Ttc>Atc		Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.							238	175	196					7																	31126052		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126052T>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.724T>A	7.37:g.31126052T>A	ENSP00000306620:p.Phe242Ile					ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	p.F242I	NM_001118	NP_001109	P41586	PACR_HUMAN			9	1013	+			242					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.724T>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816302	0.70912	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.47528	1.02;0.88;0.84;0.84	5.69	3.27	0.37495	GPCR, family 2-like (1);	0.047550	0.85682	D	0.000000	T	0.69708	0.3141	M	0.91406	3.205	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.987;0.996	D;D;D;D;D	0.80764	0.994;0.978;0.988;0.926;0.969	T	0.68765	-0.5322	10	0.66056	D	0.02	.	6.3458	0.21349	0.1406:0.0777:0.0:0.7817	.	242;242;242;221;242	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	I	242;13;221;242;242	ENSP00000306620:F242I;ENSP00000387335:F221I;ENSP00000379514:F242I;ENSP00000386395:F242I	ENSP00000306620:F242I	F	+	1	0	ADCYAP1R1	31092577	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.139000	0.71728	0.409000	0.25649	-1.260000	0.01463	TTC		0.542	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		A	31126052	T	A	31126052	3	1	76	1	0	0	0	0	1	0	0	0	303	1609	56	5	758	5	ADCYAP1R1	7	31126052	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		31126052	128012611	41	5082											
HECW1	23072	broad.mit.edu	37	chr7	43485123	43485123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcacgtggaaagaagcccGgaaggtctggaatcccccgt	10	5	15	11	3	1	1	0	0	1	1	2	4	2	4	3	5	1	1	3	5	4	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:43485123G>A	ENST00000395891.2	+	11	2957	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P	HECW1_ENST00000453890.1_Silent_p.P784P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGAAGCCCGGAAGGTCTGG	0.612																																						uc003tid.1																			0		p.L784I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2350-2352)ccG>ccA		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							11	13	12					7																	43485123		1852	4022	5874	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43485123G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2352G>A	7.37:g.43485123G>A						HECW1_uc011kbi.1_Silent_p.P784P	p.P784P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			10	2957	+			784					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2352G>A	CCDS5469.2																																																																																				0.612	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43485123	G	A	43485123	2	1	76	1	0	0	0	0	0	0	0	1	7042	1103	39	2		2	HECW1	7	43485123	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	12359071	43485123	115653540	42	5083											
GNAT3	346562	broad.mit.edu	37	chr7	80091827	80091827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagacttaccacttcttcGtcttccacgaggaccatgtc	8	14	6	13	2	2	1	0	0	2	1	5	3	3	2	3	1	1	0	3	1	2	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80091827G>A	ENST00000398291.3	-	6	804	c.711C>T	c.(709-711)gaC>gaT	p.D237D	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	237					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCACTTCTTCGTCTTCCACGA	0.408																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(709-711)gaC>gaT		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							145	134	137					7																	80091827		1944	4167	6111	SO:0001819	synonymous_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091827G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.711C>T	7.37:g.80091827G>A						CD36_uc003uhc.3_Intron	p.D237D	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			5	711	-			237					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.711C>T	CCDS47625.1																																																																																				0.408	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		A	80091827	G	A	80091827	2	1	76	1	0	0	0	0	0	0	0	1	6513	1136	40	1		1	GNAT3	7	80091827	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	36606704	80091827	79046836	43	5084											
SEMA3C	10512	broad.mit.edu	37	chr7	80378254	80378254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtaacagccacttgAtagatgcctgcggagacttg	9	12	10	10	1	1	3	0	1	1	2	1	4	1	3	2	1	4	1	2	1	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80378254A>G	ENST00000265361.3	-	17	2363	c.1802T>C	c.(1801-1803)aTc>aCc	p.I601T	SEMA3C_ENST00000544525.1_Missense_Mutation_p.I619T|SEMA3C_ENST00000419255.2_Missense_Mutation_p.I601T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	601	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCACTTGATAGATGCCTG	0.453																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1855-1857)aTc>aCc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							141	129	133					7																	80378254		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80378254A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1802T>C	7.37:g.80378254A>G	ENSP00000265361:p.Ile601Thr					SEMA3C_uc003uhj.3_Missense_Mutation_p.I601T	p.I619T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			16	1935	-			601			Ig-like C2-type.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1856T>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218952	0.79464	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.72282	-0.64;-0.64;-0.64	5.38	5.38	0.77491	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195010	0.50627	D	0.000106	T	0.72078	0.3416	M	0.62209	1.925	0.80722	D	1	P;P	0.42337	0.735;0.776	B;B	0.43155	0.287;0.41	T	0.76410	-0.2969	10	0.72032	D	0.01	.	15.3914	0.74747	1.0:0.0:0.0:0.0	.	619;601	F5H1Z7;Q99985	.;SEM3C_HUMAN	T	601;601;619	ENSP00000265361:I601T;ENSP00000411193:I601T;ENSP00000445649:I619T	ENSP00000265361:I601T	I	-	2	0	SEMA3C	80216190	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.310000	0.96267	2.031000	0.59945	0.460000	0.39030	ATC		0.453	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		G	80378254	A	G	80378254	3	3	76	1	0	0	0	0	1	0	0	0	14026	333	12	4	461	4	SEMA3C	7	80378254	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	286427	80378254	78760409	44	5085											
CACNA2D1	781	broad.mit.edu	37	chr7	81635118	81635118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttttaatatcttccaaaGacacatctactcccatcaca	13	13	2	13	0	4	1	1	0	3	1	6	1	6	1	2	0	1	0	2	0	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:81635118G>C	ENST00000356253.5	-	17	1733	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S493C|CACNA2D1_ENST00000464354.1_5'UTR			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	493	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCTTCCAAAGACACATCTAC	0.328																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1477-1479)tCt>tGt		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						121	115	117					7																	81635118		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81635118G>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1478C>G	7.37:g.81635118G>C	ENSP00000348589:p.Ser493Cys						p.S493C	NM_000722	NP_000713	P54289	CA2D1_HUMAN			16	1734	-			493			Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1478C>G		.	.	.	.	.	.	.	.	.	.	G	25.0	4.590222	0.86851	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.07800	3.17;3.16	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.37384	-0.9708	10	0.87932	D	0	-18.2335	18.9575	0.92664	0.0:0.0:1.0:0.0	.	493	P54289-2	.	C	493	ENSP00000349320:S493C;ENSP00000348589:S493C	ENSP00000284088:S493C	S	-	2	0	CACNA2D1	81473054	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.408000	0.97327	2.580000	0.87095	0.591000	0.81541	TCT		0.328	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				C	81635118	G	C	81635118	3	2	76	1	0	0	0	0	1	0	0	0	2548	942	33	5	1889	5	CACNA2D1	7	81635118	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	1256864	81635118	77503545	45	5086											
KEL	3792	broad.mit.edu	37	chr7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcacccagtattctccGaagtcggtttttgttctttg	5	18	7	11	2	3	0	1	0	2	0	6	1	4	0	3	1	0	3	3	1	2	7	rs184131044	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:142658027G>A	ENST00000355265.2	-	4	862	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	130					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502													G|||	4	0.000798722	0	0	5008	,	,		19594	0.002		0	False		,,,				2504	0.002					uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	GRCh37	CM973369	KEL	M	rs184131044	c.(388-390)Cgg>Tgg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							185	189	188					7																	142658027		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658027G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.388C>T	7.37:g.142658027G>A	ENSP00000347409:p.Arg130Trp						p.R130W	NM_000420	NP_000411	P23276	KELL_HUMAN			3	598	-	Melanoma(164;0.059)		130					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.388C>T	CCDS34766.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.875|5.875	0.345548|0.345548	0.11126|0.11126	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543|ENST00000460479	T;T;T|.	0.77229|.	-1.08;-1.08;-1.08|.	5.84|5.84	1.87|1.87	0.25490|0.25490	Peptidase M13 (1);|.	0.616178|.	0.14380|.	N|.	0.323161|.	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B|.	0.30236|.	0.274|.	B|.	0.28465|.	0.09|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.62326|.	D|.	0.03|.	-17.8298|-17.8298	6.7327|6.7327	0.23393|0.23393	0.0825:0.0:0.4634:0.4541|0.0825:0.0:0.4634:0.4541	.|.	130|.	P23276|.	KELL_HUMAN|.	W|L	130;130;111|140	ENSP00000347409:R130W;ENSP00000419889:R130W;ENSP00000420011:R111W|.	ENSP00000347409:R130W|.	R|S	-|-	1|2	2|0	KEL|KEL	142368149|142368149	0.004000|0.004000	0.15560|0.15560	0.003000|0.003000	0.11579|0.11579	0.050000|0.050000	0.14768|0.14768	0.366000|0.366000	0.20365|0.20365	0.056000|0.056000	0.16144|0.16144	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.502	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142658027	G	A	142658027	3	1	76	1	0	0	0	0	1	0	0	0	8142	1057	37	2	1874	2	KEL	7	142658027	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	61022909	142658027	16480636	46	5087											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871955	1871955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagatctgggcgaccgacGttctttacagctgtgttcaa	8	11	12	10	3	3	1	1	0	2	1	3	3	3	1	1	2	2	4	1	2	2	4	rs528316967	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:1871955G>A	ENST00000398564.1	+	21	2478	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	ARHGEF10_ENST00000520359.1_Silent_p.T763T|ARHGEF10_ENST00000262112.6_Silent_p.T826T|ARHGEF10_ENST00000518288.1_Silent_p.T825T|ARHGEF10_ENST00000349830.3_Silent_p.T801T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	826					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGCGACCGACGTTCTTTACAG	0.488													G|||	9	0.00179712	0	0	5008	,	,		17961	0		0	False		,,,				2504	0.0092					uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2401-2403)acG>acA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							145	116	126					8																	1871955		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871955G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2478G>A	8.37:g.1871955G>A						ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.3_Silent_p.T763T|ARHGEF10_uc003wpv.3_Silent_p.T534T|ARHGEF10_uc010lre.3_Silent_p.T481T	p.T801T	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	20	2581	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	826					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2403G>A																																																																																					0.488	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				A	1871955	G	A	1871955	2	1	76	1	0	0	0	0	0	0	0	1	894	1132	40	1		1	ARHGEF10	8	1871955	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		1871955	144492067	47	5088											
WRN	7486	broad.mit.edu	37	chr8	30977768	30977768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttctcagtgtgtcataGctaccatagcttttggaatg	8	17	9	7	0	2	0	2	0	1	0	3	1	2	1	1	1	3	3	1	1	4	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:30977768G>C	ENST00000298139.5	+	21	2707	c.2458G>C	c.(2458-2460)Gct>Cct	p.A820P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	820	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTGTGTCATAGCTACCATAGC	0.353			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.4			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2458-2460)Gct>Cct	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.							182	173	176					8																	30977768		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30977768G>C		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2458G>C	8.37:g.30977768G>C	ENSP00000298139:p.Ala820Pro					WRN_uc010lvk.3_Missense_Mutation_p.A287P	p.A820P	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	20	3246	+		Breast(100;0.195)	820			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2458G>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878325	0.91740	.	.	ENSG00000165392	ENST00000298139	T	0.09163	3.01	5.76	5.76	0.90799	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	H	0.99838	4.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79235	-0.1887	10	0.87932	D	0	-16.0929	19.9192	0.97079	0.0:0.0:1.0:0.0	.	230;820	Q59F09;Q14191	.;WRN_HUMAN	P	820	ENSP00000298139:A820P	ENSP00000298139:A820P	A	+	1	0	WRN	31097310	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	8.146000	0.89626	2.882000	0.98803	0.655000	0.94253	GCT		0.353	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			C	30977768	G	C	30977768	3	2	76	1	0	0	0	0	1	0	0	0	17399	971	34	5	2536	5	WRN	8	30977768	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	29105813	30977768	115386254	48	5089											
SDC2	6383	broad.mit.edu	37	chr8	97614730	97614730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccacgacgctgaatataCagaacaagatacctgctcag	17	6	7	11	2	1	3	1	1	0	2	1	4	1	3	2	0	5	2	2	0	7	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:97614730C>G	ENST00000302190.4	+	3	1201	c.280C>G	c.(280-282)Cag>Gag	p.Q94E	SDC2_ENST00000518385.1_Missense_Mutation_p.Q58E|SDC2_ENST00000519914.1_Missense_Mutation_p.Q65E|SDC2_ENST00000522911.1_Missense_Mutation_p.Q65E	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTGAATATACAGAACAAGAT	0.423																																						uc003yhv.1																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(280-282)Cag>Gag		Homo sapiens syndecan 2 (SDC2), mRNA.	Sargramostim(DB00020)						138	126	130					8																	97614730		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97614730C>G	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.280C>G	8.37:g.97614730C>G	ENSP00000307046:p.Gln94Glu					SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	p.Q94E	NM_002998	NP_002989	P34741	SDC2_HUMAN			2	898	+	Breast(36;3.41e-05)		94					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.280C>G	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113384	0.37339	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.29655	1.56;1.57;1.58;1.58;1.56	5.32	5.32	0.75619	.	0.323049	0.29522	N	0.011919	T	0.33000	0.0848	L	0.56769	1.78	0.39782	D	0.972318	B	0.23735	0.09	B	0.33846	0.171	T	0.16958	-1.0385	10	0.02654	T	1	-4.4401	17.5352	0.87829	0.0:1.0:0.0:0.0	.	94	P34741	SDC2_HUMAN	E	94;58;94;84;65;65;65;65	ENSP00000307046:Q94E;ENSP00000429045:Q58E;ENSP00000427784:Q65E;ENSP00000428256:Q65E;ENSP00000429121:Q65E	ENSP00000307046:Q94E	Q	+	1	0	SDC2	97683906	0.997000	0.39634	0.079000	0.20413	0.969000	0.65631	4.607000	0.61133	2.662000	0.90505	0.655000	0.94253	CAG		0.423	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		G	97614730	C	G	97614730	3	3	76	1	0	0	0	0	1	0	0	0	13952	479	17	5	290	5	SDC2	8	97614730	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	66636962	97614730	48749292	49	5090											
RGS22	26166	broad.mit.edu	37	chr8	101059740	101059740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggatacaaaagctcccGcttccaaggcttttgagttg	10	11	9	11	1	0	1	0	1	0	0	2	2	2	2	3	2	2	4	3	2	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:101059740G>A	ENST00000360863.6	-	11	1968	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	RGS22_ENST00000523287.1_Missense_Mutation_p.R411W|RGS22_ENST00000523437.1_Missense_Mutation_p.R580W	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	592					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R592W(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAAGCTCCCGCTTCCAAGGC	0.383																																						uc003yjb.1																		RGS22/SYCP1(2)	2	Substitution - Missense(2)	p.R592W(3)	endometrium(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1774-1776)Cgg>Tgg		Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.							116	107	110					8																	101059740		1821	4082	5903	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101059740G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1774C>T	8.37:g.101059740G>A	ENSP00000354109:p.Arg592Trp					RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R496W	p.R592W	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		10	1969	-			592					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1774C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275907	0.80580	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32753	1.44;1.44;1.44	4.04	0.161	0.14977	.	0.786759	0.11759	N	0.532312	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	P;P;D	0.60575	0.937;0.937;0.988	P;P;P	0.50049	0.522;0.522;0.629	T	0.11275	-1.0594	10	0.66056	D	0.02	.	4.0854	0.09945	0.0:0.2015:0.3588:0.4396	.	580;592;411	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	W	592;580;411;580	ENSP00000354109:R592W;ENSP00000429382:R411W;ENSP00000428212:R580W	ENSP00000354109:R592W	R	-	1	2	RGS22	101128916	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.689000	0.25437	-0.210000	0.10140	-0.494000	0.04653	CGG		0.383	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		A	101059740	G	A	101059740	3	1	76	1	0	0	0	0	1	0	0	0	13305	1086	38	1	2088	1	RGS22	8	101059740	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	3445010	101059740	45304282	50	5091											
FAM83A	84985	broad.mit.edu	37	chr8	124206323	124206323	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaagtcaggcaggaaattCgctggccaaatccgggagaa	13	5	13	10	2	1	1	1	0	0	1	3	3	2	2	3	4	0	2	3	4	4	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:124206323C>T	ENST00000518448.1	+	4	2722	c.708C>T	c.(706-708)ttC>ttT	p.F236F	FAM83A_ENST00000276699.6_Silent_p.F236F|FAM83A_ENST00000522648.1_Silent_p.F180F|FAM83A_ENST00000536633.1_Silent_p.F236F|FAM83A_ENST00000318462.6_Silent_p.F236F|FAM83A_ENST00000546351.1_Silent_p.F180F			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	236										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGGAAATTCGCTGGCCAAA	0.473																																						uc003ypv.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(706-708)ttC>ttT		Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.							138	116	123					8																	124206323		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124206323C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.708C>T	8.37:g.124206323C>T						FAM83A_uc003ypw.3_Silent_p.F236F|FAM83A_uc003ypx.3_Silent_p.F236F|FAM83A_uc003ypy.3_Silent_p.F180F|FAM83A_uc003ypz.3_Silent_p.F236F	p.F236F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2722	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		236					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.708C>T	CCDS6340.1																																																																																				0.473	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		T	124206323	C	T	124206323	2	4	76	1	0	0	0	0	0	0	0	1	5633	883	31	2		2	FAM83A	8	124206323	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	23146583	124206323	22157699	51	5092											
OR13C8	138802	broad.mit.edu	37	chr9	107332231	107332231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttcatgtacgcaaaGcctgagtctaaagcctctgt	10	13	7	11	1	5	1	1	1	4	0	5	1	5	1	2	0	3	2	2	0	4	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:107332231G>A	ENST00000335040.1	+	1	783	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTACGCAAAGCCTGAGTCTA	0.453																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(781-783)aaG>aaA		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							111	97	102					9																	107332231		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332231G>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.783G>A	9.37:g.107332231G>A							p.K261K	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			0	783	+			261					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.783G>A	CCDS35090.1																																																																																				0.453	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			A	107332231	G	A	107332231	2	1	76	1	0	0	0	0	0	0	0	1	10938	962	34	3		3	OR13C8	9	107332231	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		107332231	33881200	52	5093											
CUBN	8029	broad.mit.edu	37	chr10	17083094	17083094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctaaaaatgtgtagtTcacagtgttgcctgttgttg	11	15	10	5	0	1	0	1	0	0	0	1	0	1	0	1	0	2	6	1	0	5	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:17083094T>C	ENST00000377833.4	-	27	4020	c.3955A>G	c.(3955-3957)Aac>Gac	p.N1319D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1319	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTGTAGTTCACAGTGTTG	0.383																																						uc001ioo.3																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3955-3957)Aac>Gac		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						252	244	247					10																	17083094		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17083094T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3955A>G	10.37:g.17083094T>C	ENSP00000367064:p.Asn1319Asp						p.N1319D	NM_001081	NP_001072	O60494	CUBN_HUMAN			26	4007	-			1319			CUB 8.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3955A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205550	0.79127	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.84	5.84	0.93424	CUB (5);	0.000000	0.51477	D	0.000099	T	0.39860	0.1094	M	0.76002	2.32	0.80722	D	1	D	0.59767	0.986	D	0.62955	0.909	T	0.11012	-1.0605	10	0.33141	T	0.24	.	15.8778	0.79180	0.0:0.0:0.0:1.0	.	1319	O60494	CUBN_HUMAN	D	1319	ENSP00000367064:N1319D	ENSP00000367064:N1319D	N	-	1	0	CUBN	17123100	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.875000	0.75551	2.235000	0.73313	0.459000	0.35465	AAC		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	17083094	T	C	17083094	3	2	76	1	0	0	0	0	1	0	0	0	4051	1783	62	4	7080	4	CUBN	10	17083094	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		17083094	118451653	53	5094											
A1CF	29974	broad.mit.edu	37	chr10	52587910	52587910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggtttgatattgttgaaTtccttttcaatcatctcttc	7	20	5	9	0	3	2	2	2	1	0	6	2	4	2	2	1	0	2	2	1	3	8			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:52587910T>A	ENST00000373993.1	-	5	794	c.750A>T	c.(748-750)gaA>gaT	p.E250D	A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.2_Missense_Mutation_p.E250D|A1CF_ENST00000373997.3_Missense_Mutation_p.E250D|A1CF_ENST00000395489.2_Missense_Mutation_p.E243D|A1CF_ENST00000282641.2_Missense_Mutation_p.E250D|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.E258D			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	250	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TATTGTTGAATTCCTTTTCAA	0.353																																						uc001jjj.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(748-750)gaA>gaT		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.							127	124	125					10																	52587910		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52587910T>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.750A>T	10.37:g.52587910T>A	ENSP00000363105:p.Glu250Asp					A1CF_uc010qho.2_Missense_Mutation_p.E258D|A1CF_uc010qhn.2_Missense_Mutation_p.E258D|A1CF_uc009xov.3_Missense_Mutation_p.E250D|A1CF_uc001jji.3_Missense_Mutation_p.E250D|A1CF_uc001jjh.3_Missense_Mutation_p.E258D	p.E250D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			6	938	-			250			RRM 3.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.750A>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.614506	0.66672	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.48	4.35	0.52113	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.42529	1.33	0.54753	D	0.999984	P;D;D;P	0.67145	0.94;0.984;0.996;0.883	P;P;P;P	0.59056	0.583;0.845;0.851;0.606	T	0.02004	-1.1231	10	0.36615	T	0.2	.	9.239	0.37484	0.0:0.0852:0.0:0.9148	.	243;250;250;258	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	D	250;250;250;258;250;233;243	ENSP00000363113:E250D;ENSP00000363105:E250D;ENSP00000363109:E250D;ENSP00000363107:E258D;ENSP00000282641:E250D;ENSP00000378868:E243D	ENSP00000282641:E250D	E	-	3	2	A1CF	52257916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.731000	0.55013	0.929000	0.37192	0.460000	0.39030	GAA		0.353	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		A	52587910	T	A	52587910	3	1	76	1	0	0	0	0	1	0	0	0	2	1490	52	5	1062	5	A1CF	10	52587910	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	35504816	52587910	82946837	54	5095											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292|rs121909224		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141	131	134					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692904	C	T	89692904	4	4	76	1	0	0	0	0	0	1	0	0	12738	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	37104994	89692904	45841843	55	5096											
OR51G1	79324	broad.mit.edu	37	chr11	4945014	4945014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggccagcttcatgaTctccaggtgaagacaataag	14	7	11	9	0	2	4	1	2	1	2	3	4	2	4	2	2	2	2	2	2	3	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:4945014T>A	ENST00000321961.2	-	1	623	c.556A>T	c.(556-558)Atc>Ttc	p.I186F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTCATGATCTCCAGGTGA	0.522																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(556-558)Atc>Ttc		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.							92	81	85					11																	4945014		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945014T>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.556A>T	11.37:g.4945014T>A	ENSP00000322546:p.Ile186Phe						p.I186F	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	556	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	186					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.556A>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482779	0.44147	.	.	ENSG00000176879	ENST00000321961	T	0.00237	8.47	4.41	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.186057	0.26106	U	0.026320	T	0.00300	0.0009	M	0.68952	2.095	0.09310	N	1	P	0.46064	0.872	P	0.54590	0.756	T	0.41484	-0.9506	10	0.72032	D	0.01	.	3.9741	0.09467	0.0:0.2741:0.1819:0.5441	.	186	Q8NGK1	O51G1_HUMAN	F	186	ENSP00000322546:I186F	ENSP00000322546:I186F	I	-	1	0	OR51G1	4901590	0.000000	0.05858	0.998000	0.56505	0.702000	0.40608	-1.721000	0.01870	0.752000	0.32923	0.455000	0.32223	ATC		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		A	4945014	T	A	4945014	3	1	76	1	0	0	0	0	1	0	0	0	11098	1435	50	5	411	5	OR51G1	11	4945014	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		4945014	130061502	56	5097											
FADS3	3995	broad.mit.edu	37	chr11	61646097	61646097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagttccaccagtgggCggagaagccctgtggaggag	9	5	18	9	2	0	1	0	0	0	1	1	5	1	4	3	5	1	1	3	5	2	1	rs377115399		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:61646097C>G	ENST00000278829.2	-	5	786	c.634G>C	c.(634-636)Gcc>Ccc	p.A212P	FADS3_ENST00000527697.1_Missense_Mutation_p.A88P|FADS3_ENST00000525588.1_Missense_Mutation_p.A184P|FADS3_ENST00000540820.1_Missense_Mutation_p.A212P	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	212					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTGGGCGGAGAAGCCC	0.667																																						uc001nsm.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(634-636)Gcc>Ccc		Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.							95	87	89					11																	61646097		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646097C>G		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.634G>C	11.37:g.61646097C>G	ENSP00000278829:p.Ala212Pro						p.A212P	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			4	787	-			212					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.634G>C	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536525	0.85812	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31	4.85	3.94	0.45596	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.32164	0.0820	M	0.78916	2.43	0.58432	D	0.999995	B;B	0.31611	0.217;0.331	B;P	0.45377	0.38;0.478	T	0.06881	-1.0802	9	0.36615	T	0.2	-14.7777	12.179	0.54202	0.0:0.9155:0.0:0.0844	.	88;212	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	P	88;212;212;184;88;88	ENSP00000431533:A88P;ENSP00000278829:A212P;ENSP00000439308:A212P;ENSP00000432206:A184P;ENSP00000436890:A88P;ENSP00000434551:A88P	ENSP00000278829:A212P	A	-	1	0	FADS3	61402673	0.933000	0.31639	0.952000	0.39060	0.989000	0.77384	1.978000	0.40598	1.172000	0.42781	0.561000	0.74099	GCC		0.667	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			G	61646097	C	G	61646097	3	3	76	1	0	0	0	0	1	0	0	0	5367	768	27	5	735	5	FADS3	11	61646097	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	56701083	61646097	73360419	57	5098											
DNAJC4	3338	broad.mit.edu	37	chr11	64001432	64001432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcacagccttctacaaCgaagcccgggcacgggccag	11	5	10	15	3	3	0	2	0	1	0	3	1	3	0	3	2	4	1	3	2	3	2	rs138996784	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:64001432C>T	ENST00000321685.3	+	6	1059	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_3'UTR|VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Silent_p.N199N|VEGFB_ENST00000426086.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	198					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						CCTTCTACAACGAAGCCCGGG	0.547																																						uc001nyt.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(595-597)aaC>aaT		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.							107	117	114					11																	64001432		1996	4154	6150	SO:0001819	synonymous_variant	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:64001432C>T	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.594C>T	11.37:g.64001432C>T						AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Silent_p.N198N|DNAJC4_uc001nyu.3_Silent_p.N198N|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank	p.N199N			Q9NNZ3	DNJC4_HUMAN			4	1020	+			198					O14716	Silent	SNP	ENST00000321685.3	37	c.597C>T	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	c	0.056	-1.236026	0.01505	.	.	ENSG00000110011	ENST00000535246	.	.	.	4.37	-8.73	0.00841	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.51767	D	0.999932	.	.	.	.	.	.	T	0.69503	-0.5128	4	.	.	.	-15.2394	13.7649	0.62988	0.1037:0.6996:0.0:0.1967	.	.	.	.	M	136	.	.	T	+	2	0	DNAJC4	63758008	0.000000	0.05858	0.013000	0.15412	0.006000	0.05464	-3.339000	0.00506	-3.027000	0.00267	-0.990000	0.02549	ACG		0.547	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			T	64001432	C	T	64001432	2	4	76	1	0	0	0	0	0	0	0	1	4649	535	19	1		1	DNAJC4	11	64001432	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	2355335	64001432	71005084	58	5099											
FAT3	120114	broad.mit.edu	37	chr11	92533806	92533806	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatgactttgccaaggatCgattcctcatagacagcaat	13	11	7	10	1	2	2	2	1	0	1	4	4	3	3	2	1	2	1	2	1	4	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:92533806C>T	ENST00000298047.6	+	9	7644	c.7627C>T	c.(7627-7629)Cga>Tga	p.R2543*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R2543*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R2393*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2543	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCAAGGATCGATTCCTCAT	0.488										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7627-7629)Cga>Tga		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							47	48	47					11																	92533806		2059	4202	6261	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533806C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7627C>T	11.37:g.92533806C>T	ENSP00000298047:p.Arg2543*	TCGA Ovarian(4;0.039)					p.R2543*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	7644	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2543			Cadherin 23.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.7627C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.439365	0.99795	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.95	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3345	0.66578	0.3893:0.6107:0.0:0.0	.	.	.	.	X	2543;2543;2393	.	ENSP00000298047:R2543X	R	+	1	2	FAT3	92173454	0.498000	0.26075	0.989000	0.46669	0.922000	0.55478	0.379000	0.20585	0.844000	0.35094	-0.152000	0.13540	CGA		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92533806	C	T	92533806	4	4	76	1	0	0	0	0	0	1	0	0	5691	876	31	2	7661	2	FAT3	11	92533806	Nonsense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	28532374	92533806	42472710	59	5100											
CNTN5	53942	broad.mit.edu	37	chr11	99690432	99690432	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcacccagctggctaggGgcagctcagaattattattc	9	12	9	11	0	3	1	2	0	1	1	4	1	3	1	1	3	2	4	1	3	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:99690432G>T	ENST00000524871.1	+	4	503	c.213G>T	c.(211-213)ggG>ggT	p.G71G	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Silent_p.G71G|CNTN5_ENST00000279463.3_Silent_p.G71G|CNTN5_ENST00000528682.1_Silent_p.G71G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	71					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTGGCTAGGGGCAGCTCAGA	0.433																																						uc001pga.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(211-213)ggG>ggT		Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.							74	74	74					11																	99690432		1909	4109	6018	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690432G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.213G>T	11.37:g.99690432G>T						CNTN5_uc009ywv.2_Silent_p.G71G|CNTN5_uc001pfz.3_Silent_p.G71G|CNTN5_uc021qpb.1_Silent_p.G71G|CNTN5_uc021qpc.1_Intron	p.G71G	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	3	717	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	71					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.213G>T	CCDS53696.1																																																																																				0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	99690432	G	T	99690432	2	4	76	1	0	0	0	0	0	0	0	1	3644	1219	43	5		5	CNTN5	11	99690432	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	7156626	99690432	35316084	60	5101											
CLDN25	644672	broad.mit.edu	37	chr11	113650596	113650596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgggtctgctcctgtgttAccaccatcctgccccagtgg	4	11	11	15	0	1	0	0	0	1	0	3	0	3	0	6	2	3	3	6	2	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:113650596A>G	ENST00000453129.2	+	1	128	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCTGTGTTACCACCATCCT	0.557																																						uc009yyw.1																			0				large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(79-81)Acc>Gcc		Homo sapiens claudin 25 (CLDN25), mRNA.							87	95	92					11																	113650596		2144	4269	6413	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650596A>G		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.79A>G	11.37:g.113650596A>G	ENSP00000396304:p.Thr27Ala						p.T27A	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			0	79	+			27						Missense_Mutation	SNP	ENST00000453129.2	37	c.79A>G	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181557	0.57800	.	.	ENSG00000228607	ENST00000453129	D	0.88354	-2.37	5.04	3.91	0.45181	.	.	.	.	.	D	0.86289	0.5897	L	0.42008	1.315	0.39255	D	0.964117	P	0.35174	0.488	B	0.42653	0.394	D	0.84046	0.0367	9	0.41790	T	0.15	.	9.7973	0.40742	0.9194:0.0:0.0806:0.0	.	27	C9JDP6	CLD25_HUMAN	A	27	ENSP00000396304:T27A	ENSP00000396304:T27A	T	+	1	0	CLDN25	113155806	1.000000	0.71417	0.264000	0.24511	0.732000	0.41865	3.165000	0.50778	0.948000	0.37687	0.533000	0.62120	ACC		0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		G	113650596	A	G	113650596	3	3	76	1	0	0	0	0	1	0	0	0	3485	391	14	4	81	4	CLDN25	11	113650596	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13960164	113650596	21355920	61	5102											
ACSM4	341392	broad.mit.edu	37	chr12	7476137	7476137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacctacacggcccttctGtttcttctctaaatatgtgg	9	14	6	12	1	3	0	0	0	3	0	4	0	3	0	2	2	2	1	2	2	5	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7476137G>C	ENST00000399422.4	+	9	1337	c.1289G>C	c.(1288-1290)tGt>tCt	p.C430S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	430					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CGGCCCTTCTGTTTCTTCTCT	0.398																																						uc001qsx.1																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(1288-1290)tGt>tCt		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.							65	63	64					12																	7476137		1832	4084	5916	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7476137G>C		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1289G>C	12.37:g.7476137G>C	ENSP00000382349:p.Cys430Ser						p.C430S	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			8	1289	+			430					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1289G>C	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614634	0.14129	.	.	ENSG00000215009	ENST00000399422	T	0.37584	1.19	3.6	1.71	0.24356	AMP-dependent synthetase/ligase (1);	0.000000	0.42821	U	0.000646	T	0.15219	0.0367	N	0.03948	-0.315	0.31367	N	0.680639	B	0.14805	0.011	B	0.21360	0.034	T	0.07578	-1.0765	10	0.54805	T	0.06	-6.5183	6.5801	0.22589	0.1079:0.1839:0.7081:0.0	.	430	P0C7M7	ACSM4_HUMAN	S	430	ENSP00000382349:C430S	ENSP00000382349:C430S	C	+	2	0	ACSM4	7367404	0.755000	0.28372	0.998000	0.56505	0.828000	0.46876	0.154000	0.16343	0.321000	0.23259	-0.310000	0.09108	TGT		0.398	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		C	7476137	G	C	7476137	3	2	76	1	0	0	0	0	1	0	0	0	186	1377	48	5	1323	5	ACSM4	12	7476137	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		7476137	126375758	62	5103											
CD163	9332	broad.mit.edu	37	chr12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcactatggccccagcGtctggcaggacaatcccaca	11	6	8	16	1	2	0	1	0	1	0	3	1	3	1	3	3	1	1	3	3	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7636017G>A	ENST00000359156.4	-	12	3236	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_ENST00000541972.1_Missense_Mutation_p.R1000C|CD163_ENST00000396620.3_Missense_Mutation_p.R1045C|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.R1012C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1012	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGCCCCAGCGTCTGGCAGGA	0.512																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3034-3036)Cgc>Tgc		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							118	102	108					12																	7636017		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636017G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3034C>T	12.37:g.7636017G>A	ENSP00000352071:p.Arg1012Cys					CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	p.R1012C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			11	3162	-			1012			SRCR 9.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3034C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141415	0.57044	.	.	ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.4	0.998	0.19857	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.647597	0.15236	N	0.273152	T	0.47116	0.1428	L	0.61218	1.895	0.09310	N	1	D;D;D	0.65815	0.995;0.969;0.995	P;B;P	0.54706	0.759;0.436;0.759	T	0.33803	-0.9854	10	0.56958	D	0.05	.	4.9216	0.13872	0.0932:0.1331:0.5919:0.1818	.	1045;1012;1012	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	1012;52;1000;1045;1012	ENSP00000352071:R1012C;ENSP00000445438:R52C;ENSP00000444071:R1000C;ENSP00000379863:R1045C;ENSP00000403885:R1012C	ENSP00000352071:R1012C	R	-	1	0	CD163	7527284	0.000000	0.05858	0.003000	0.11579	0.973000	0.67179	-0.124000	0.10595	-0.047000	0.13423	0.555000	0.69702	CGC		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7636017	G	A	7636017	3	1	76	1	0	0	0	0	1	0	0	0	2967	1145	40	1	456	1	CD163	12	7636017	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	159880	7636017	126215878	63	5104											
KIAA1467	57613	broad.mit.edu	37	chr12	13208635	13208635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccagaacccgactcagAtgctgaggttgcagaggctg	10	6	14	11	2	1	4	1	1	0	3	1	5	1	4	2	2	4	4	2	2	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:13208635A>G	ENST00000197268.8	+	2	308	c.188A>G	c.(187-189)gAt>gGt	p.D63G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	63						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCGACTCAGATGCTGAGGTT	0.562																																						uc001rbi.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(187-189)gAt>gGt		Homo sapiens KIAA1467 (KIAA1467), mRNA.							68	65	66					12																	13208635		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208635A>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.188A>G	12.37:g.13208635A>G	ENSP00000197268:p.Asp63Gly						p.D63G	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	1	211	+		Prostate(47;0.184)	63					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.188A>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.291536	0.59976	.	.	ENSG00000084444	ENST00000197268	T	0.22134	1.97	5.35	5.35	0.76521	.	0.410514	0.28908	N	0.013741	T	0.35711	0.0941	L	0.60455	1.87	0.45378	D	0.998365	D	0.57899	0.981	P	0.54100	0.742	T	0.09164	-1.0687	10	0.56958	D	0.05	-14.0992	15.3563	0.74428	1.0:0.0:0.0:0.0	.	63	A2RU67	K1467_HUMAN	G	63	ENSP00000197268:D63G	ENSP00000197268:D63G	D	+	2	0	KIAA1467	13099902	1.000000	0.71417	0.205000	0.23548	0.291000	0.27294	7.000000	0.76290	2.023000	0.59567	0.491000	0.48974	GAT		0.562	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		G	13208635	A	G	13208635	3	3	76	1	0	0	0	0	1	0	0	0	8235	333	12	4	194	4	KIAA1467	12	13208635	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	5572618	13208635	120643260	64	5105											
PTPRB	5787	broad.mit.edu	37	chr12	70949924	70949924	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggttttgtatcttgtcAggctctaaaggaaacagagg	11	12	12	6	0	3	1	1	0	2	1	3	2	3	2	0	4	2	4	0	4	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:70949924A>G	ENST00000261266.5	-	17	4094	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	PTPRB_ENST00000550857.1_Silent_p.P1265P|PTPRB_ENST00000451516.2_Silent_p.P1265P|PTPRB_ENST00000538708.1_Silent_p.P1265P|PTPRB_ENST00000550358.1_Silent_p.P1485P|PTPRB_ENST00000334414.6_Silent_p.P1573P	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1355	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTATCTTGTCAGGCTCTAAAG	0.438																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4063-4065)ccT>ccC		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							34	31	32					12																	70949924		1826	4089	5915	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949924A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4065T>C	12.37:g.70949924A>G						PTPRB_uc010sto.2_Silent_p.P1265P|PTPRB_uc010stp.2_Silent_p.P1265P|PTPRB_uc001swc.4_Silent_p.P1573P|PTPRB_uc001swa.4_Silent_p.P1485P	p.P1355P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4095	-	Renal(347;0.236)		1355			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4065T>C	CCDS44944.1																																																																																				0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			G	70949924	A	G	70949924	2	3	76	1	0	0	0	0	0	0	0	1	12796	175	7	4		4	PTPRB	12	70949924	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	57741289	70949924	62901971	65	5106											
FSCB	84075	broad.mit.edu	37	chr14	44974610	44974610	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctctatagctgctagAagctgaatttcagcagaggc	11	9	12	9	0	2	3	1	1	1	2	2	4	2	4	1	2	5	4	1	2	5	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:44974610A>T	ENST00000340446.4	-	1	1872	c.1581T>A	c.(1579-1581)ctT>ctA	p.L527L	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	527	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCTGCTAGAAGCTGAATTT	0.493																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1579-1581)ctT>ctA		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							30	30	30					14																	44974610		2202	4300	6502	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44974610A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1581T>A	14.37:g.44974610A>T							p.L527L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1890	-			527			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1581T>A	CCDS9679.1																																																																																				0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		T	44974610	A	T	44974610	2	4	76	1	0	0	0	0	0	0	0	1	6066	233	9	5		5	FSCB	14	44974610	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08		44974610	62374930	66	5107											
SYT16	83851	broad.mit.edu	37	chr14	62536340	62536340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacagctttggggatgaCgaagagctgtccacatcttc	10	10	11	10	1	2	2	1	1	1	1	4	4	3	3	1	2	3	2	1	2	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:62536340C>T	ENST00000430451.2	+	2	740	c.543C>T	c.(541-543)gaC>gaT	p.D181D	SYT16_ENST00000446982.2_Silent_p.D181D|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	181					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGGGGATGACGAAGAGCTGT	0.483																																						uc001xfu.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(541-543)gaC>gaT		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							151	140	143					14																	62536340		1955	4139	6094	SO:0001819	synonymous_variant	83851							g.chr14:62536340C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.543C>T	14.37:g.62536340C>T						SYT16_uc010tsd.1_Silent_p.D181D	p.D181D	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	1	740	+			181					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.543C>T	CCDS45121.1																																																																																				0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		T	62536340	C	T	62536340	2	4	76	1	0	0	0	0	0	0	0	1	15469	535	19	1		1	SYT16	14	62536340	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	17561730	62536340	44813200	67	5108											
SERPINA5	5104	broad.mit.edu	37	chr14	95054156	95054156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagtgccatgaagacgctgTacctggcagacactttccct	10	10	9	12	1	0	3	0	1	0	2	1	3	1	3	3	1	2	3	3	1	3	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:95054156T>C	ENST00000554866.1	+	2	571	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	SERPINA5_ENST00000329597.7_Missense_Mutation_p.Y153H|SERPINA5_ENST00000554276.1_Missense_Mutation_p.Y153H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.Y153H			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	153					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAAGACGCTGTACCTGGCAGA	0.537																																						uc001ydm.2																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(457-459)Tac>Cac		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						93	79	84					14																	95054156		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054156T>C	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.457T>C	14.37:g.95054156T>C	ENSP00000451126:p.Tyr153His					SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	p.Y153H	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	667	+			153					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.457T>C	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867829	0.72065	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	3.74	3.74	0.42951	Serpin domain (3);	0.000000	0.56097	D	0.000038	D	0.94295	0.8167	M	0.92784	3.345	0.44181	D	0.996998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95110	0.8237	10	0.87932	D	0	.	12.0875	0.53706	0.0:0.0:0.0:1.0	.	153;153	G3V5Q9;P05154	.;IPSP_HUMAN	H	153;153;153;153;153;153;5;77;153;153	ENSP00000450484:Y153H;ENSP00000450837:Y153H;ENSP00000452469:Y153H;ENSP00000451126:Y153H;ENSP00000333203:Y153H;ENSP00000450745:Y153H;ENSP00000451610:Y153H;ENSP00000450485:Y153H	ENSP00000333203:Y153H	Y	+	1	0	SERPINA5	94123909	1.000000	0.71417	0.994000	0.49952	0.030000	0.12068	7.258000	0.78371	1.706000	0.51276	0.459000	0.35465	TAC		0.537	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		C	95054156	T	C	95054156	3	2	76	1	0	0	0	0	1	0	0	0	14092	1638	57	4	459	4	SERPINA5	14	95054156	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	32517816	95054156	12295384	68	5109											
WDR72	256764	broad.mit.edu	37	chr15	53994476	53994476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaactttggtctaatttcGaagagagaccatgtggatag	12	12	10	7	1	1	2	0	0	1	2	3	5	2	3	2	2	1	0	2	2	4	4	rs201559909	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:53994476G>A	ENST00000396328.1	-	12	1663	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_ENST00000559418.1_Missense_Mutation_p.S485L|WDR72_ENST00000360509.5_Missense_Mutation_p.S475L|WDR72_ENST00000557913.1_Missense_Mutation_p.S472L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383													G|||	2	0.000399361	8e-04	0	5008	,	,		13678	0		0.001	False		,,,				2504	0					uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1423-1425)tCg>tTg		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							125	120	122					15																	53994476		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53994476G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1424C>T	15.37:g.53994476G>A	ENSP00000379619:p.Ser475Leu					WDR72_uc010bfi.1_Missense_Mutation_p.S475L	p.S475L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	11	1466	-			475					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1424C>T	CCDS10151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.23	3.338029	0.60963	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01705	4.68;4.68	5.72	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.311310	0.26887	N	0.021995	T	0.03434	0.0099	L	0.57536	1.79	0.35965	D	0.834865	D	0.55172	0.97	P	0.48738	0.588	T	0.44847	-0.9301	10	0.62326	D	0.03	.	5.1999	0.15258	0.1727:0.0:0.6611:0.1662	.	475	Q3MJ13	WDR72_HUMAN	L	475	ENSP00000379619:S475L;ENSP00000353699:S475L	ENSP00000353699:S475L	S	-	2	0	WDR72	51781768	0.910000	0.30920	1.000000	0.80357	0.932000	0.56968	3.347000	0.52200	1.429000	0.47314	0.655000	0.94253	TCG		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		A	53994476	G	A	53994476	3	1	76	1	0	0	0	0	1	0	0	0	17319	1059	37	2	1920	2	WDR72	15	53994476	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		53994476	48536916	69	5110											
HERC1	8925	broad.mit.edu	37	chr15	63948072	63948072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttctcttcagcaattcctCggagaaagctgggtagaaac	11	11	10	9	1	2	2	1	0	1	2	5	3	3	2	1	2	3	4	1	2	4	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:63948072C>T	ENST00000443617.2	-	50	10040	c.9953G>A	c.(9952-9954)cGa>cAa	p.R3318Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3318					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAATTCCTCGGAGAAAGCT	0.448																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(9952-9954)cGa>cAa		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							52	48	49					15																	63948072		1843	4092	5935	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948072C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9953G>A	15.37:g.63948072C>T	ENSP00000390158:p.Arg3318Gln						p.R3318Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			49	10101	-			3318					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9953G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139045	0.94560	.	.	ENSG00000103657	ENST00000443617	T	0.23552	1.9	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000003	T	0.44912	0.1316	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.15780	-1.0425	10	0.36615	T	0.2	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	3318	Q15751	HERC1_HUMAN	Q	3318	ENSP00000390158:R3318Q	ENSP00000390158:R3318Q	R	-	2	0	HERC1	61735125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.926000	0.70070	2.520000	0.84964	0.655000	0.94253	CGA		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63948072	C	T	63948072	3	4	76	1	0	0	0	0	1	0	0	0	7057	884	31	2	4748	2	HERC1	15	63948072	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	9953596	63948072	38583320	70	5111											
ACSM2B	348158	broad.mit.edu	37	chr16	20548638	20548638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcgaagtttggttcgtTgaattttccctgtgacagtc	6	17	10	8	2	1	2	0	2	1	0	5	3	2	2	1	1	0	3	1	1	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:20548638T>C	ENST00000329697.6	-	14	1844	c.1676A>G	c.(1675-1677)cAa>cGa	p.Q559R	ACSM2B_ENST00000567001.1_Missense_Mutation_p.Q559R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.Q559R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.Q480R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	559					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTGGTTCGTTGAATTTTCCC	0.483																																						uc002dhj.4																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1675-1677)cAa>cGa		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							253	233	240					16																	20548638		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548638T>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1676A>G	16.37:g.20548638T>C	ENSP00000327453:p.Gln559Arg					ACSM2B_uc002dhk.4_Missense_Mutation_p.Q559R	p.Q559R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			14	1886	-			559					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1676A>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.625782	0.00117	.	.	ENSG00000066813	ENST00000329697	T	0.49720	0.77	3.09	1.92	0.25849	.	1.015480	0.07922	N	0.976046	T	0.27241	0.0668	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.29610	-1.0006	10	0.02654	T	1	-0.1171	3.4866	0.07622	0.0:0.2147:0.2061:0.5791	.	559	Q68CK6	ACS2B_HUMAN	R	559	ENSP00000327453:Q559R	ENSP00000327453:Q559R	Q	-	2	0	ACSM2B	20456139	0.001000	0.12720	0.001000	0.08648	0.073000	0.16967	1.046000	0.30354	0.350000	0.24002	0.496000	0.49642	CAA		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		C	20548638	T	C	20548638	3	2	76	1	0	0	0	0	1	0	0	0	184	1812	63	4	61	4	ACSM2B	16	20548638	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		20548638	69806115	71	5112											
IL21R	50615	broad.mit.edu	37	chr16	27441407	27441407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagcatgccgcgtggctgGgccgcccccttgctcctgct	2	9	13	17	3	1	0	1	0	0	0	2	0	2	0	5	2	4	4	5	2	0	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:27441407G>A	ENST00000337929.3	+	2	488	c.15G>A	c.(13-15)tgG>tgA	p.W5*	IL21R_ENST00000564089.1_Nonsense_Mutation_p.W5*|IL21R_ENST00000395754.4_Nonsense_Mutation_p.W5*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W5*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	5					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCGTGGCTGGGCCGCCCCCT	0.716			T	BCL6	NHL																																	uc002dor.2				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(79-81)tgG>tgA		Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.							19	21	20					16																	27441407		2195	4295	6490	SO:0001587	stop_gained	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27441407G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.15G>A	16.37:g.27441407G>A	ENSP00000338010:p.Trp5*					IL21R_uc002doq.2_Nonsense_Mutation_p.W5*|IL21R_uc002dos.2_Nonsense_Mutation_p.W5*	p.W27*	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN			2	629	+			5					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Nonsense_Mutation	SNP	ENST00000337929.3	37	c.81G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.971887	0.74246	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	.	.	.	3.98	3.0	0.34707	.	0.937244	0.09010	N	0.861736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5015	8.1302	0.31022	0.1113:0.0:0.8887:0.0	.	.	.	.	X	5	.	ENSP00000338010:W5X	W	+	3	0	IL21R	27348908	0.984000	0.35163	0.094000	0.20943	0.003000	0.03518	1.595000	0.36708	1.222000	0.43521	0.650000	0.86243	TGG		0.716	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27441407	G	A	27441407	4	1	76	1	0	0	0	0	0	1	0	0	7671	1241	43	3	17	3	IL21R	16	27441407	Nonsense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	6892769	27441407	62913346	72	5113											
RILP	8578	broad.mit.edu	37	chr17	1551765	1551765	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcctccgaggggcGcccgagctgctgcgcggcct	2	6	15	18	5	0	0	0	0	0	0	1	2	1	0	5	3	5	2	5	3	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:1551765G>T	ENST00000263071.4	-	0	0				RILP_ENST00000301336.6_Missense_Mutation_p.R234S|SCARF1_ENST00000348987.3_5'Flank|SCARF1_ENST00000571272.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGAGGGGCGCCCGAGCTGC	0.637																																						uc002ftd.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15						c.(700-702)Cgc>Agc		Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.							32	32	32					17																	1551765		2203	4300	6503	SO:0001631	upstream_gene_variant	83547				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	g.chr17:1551765G>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551765G>T	Exception_encountered					SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	p.R234S	NM_031430	NP_113618	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	994	-			234					A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.700C>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	g	8.721	0.914373	0.17907	.	.	ENSG00000167705	ENST00000301336	T	0.30182	1.54	5.71	-7.19	0.01500	.	1.385250	0.04145	N	0.320268	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.23440	-1.0188	10	0.10377	T	0.69	-3.9392	0.0688	0.00020	0.3237:0.1892:0.1864:0.3007	.	234	Q96NA2	RILP_HUMAN	S	234	ENSP00000301336:R234S	ENSP00000301336:R234S	R	-	1	0	RILP	1498515	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.376000	0.20535	-1.137000	0.02888	-3.852000	0.00018	CGC		0.637	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		T	1551765	G	T	1551765	1	4	76	0	1	0	0	0	0	0	0	0	13360	1087	38	5		5	RILP	17	1551765	5'Flank	SNP	G	TCGA-06-2558-01A-01D-1494-08		1551765	79643445	73	5114											
TP53	7157	broad.mit.edu	37	chr17	7577097	7577097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttcctctgtgcgccggtCtctcccaggacaggcacaaa	7	9	9	16	2	3	0	0	0	3	0	6	1	5	1	3	3	1	1	3	3	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7577097C>G	ENST00000269305.4	-	8	1030	c.841G>C	c.(841-843)Gac>Cac	p.D281H	TP53_ENST00000359597.4_Missense_Mutation_p.D281H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281H|TP53_ENST00000445888.2_Missense_Mutation_p.D281H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.D281H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	p.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281G(10)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.R280_D281delRD(4)|p.D281V(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.D281fs*63(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076566	TP53	M		c.(841-843)Gac>Cac	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							80	69	73					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577097C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>C	17.37:g.7577097C>G	ENSP00000269305:p.Asp281His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.D281H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1035	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.841G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824180	0.90955	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99873	-7.38;-7.38;-7.38;-7.38;-7.38;-7.38	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	P;D;D;P	0.89917	0.954;1.0;0.963;0.684	P;D;P;P	0.97110	0.771;1.0;0.769;0.773	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	281;281;281;281;281;270;149	ENSP00000352610:D281H;ENSP00000269305:D281H;ENSP00000398846:D281H;ENSP00000391127:D281H;ENSP00000391478:D281H;ENSP00000425104:D149H	ENSP00000269305:D281H	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577097	C	G	7577097	3	3	76	1	0	0	0	0	1	0	0	0	16378	913	32	5	445	5	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	6025332	7577097	73618113	74	5115											
KDM6B	23135	broad.mit.edu	37	chr17	7752755	7752755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagccacccacagctcCagcccctccatcagctcctg	8	5	7	21	0	1	0	1	0	0	0	4	0	4	0	8	1	4	2	8	1	1	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7752755C>T	ENST00000448097.2	+	11	3480	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1050L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1050	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACAGCTCCAGCCCCTCCA	0.677																																						uc002gix.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1054-1056)cCa>cTa		Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.							15	14	15					17																	7752755		2170	4268	6438	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752755C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3149C>T	17.37:g.7752755C>T	ENSP00000412513:p.Pro1050Leu					KDM6B_uc002giw.1_Missense_Mutation_p.P1050L	p.P352L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			0	1892	+			1050			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1055C>T		.	.	.	.	.	.	.	.	.	.	C	7.474	0.647321	0.14516	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.33438	1.41;1.42	4.11	2.04	0.26737	.	0.679507	0.12906	N	0.429321	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.33854	-0.9852	10	0.07030	T	0.85	-0.8656	6.8437	0.23977	0.0:0.7215:0.1785:0.1001	.	1050;1050	O15054;O15054-1	KDM6B_HUMAN;.	L	1050	ENSP00000254846:P1050L;ENSP00000412513:P1050L	ENSP00000254846:P1050L	P	+	2	0	KDM6B	7693480	0.000000	0.05858	0.160000	0.22671	0.910000	0.53928	0.411000	0.21115	0.483000	0.27608	0.462000	0.41574	CCA		0.677	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		T	7752755	C	T	7752755	3	4	76	1	0	0	0	0	1	0	0	0	8138	594	21	3	3179	3	KDM6B	17	7752755	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	175658	7752755	73442455	75	5116											
GRB7	2886	broad.mit.edu	37	chr17	37902194	37902194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccaactctggttccaCgggcgcatttcccgtgagga	7	8	11	15	4	1	1	0	1	1	0	3	2	3	2	3	3	1	3	3	3	1	2	rs373282915		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:37902194C>A	ENST00000309156.4	+	13	1556	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	GRB7_ENST00000309185.3_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.H456Q|GRB7_ENST00000394209.2_Missense_Mutation_p.H433Q|GRB7_ENST00000394211.3_Missense_Mutation_p.H433Q|GRB7_ENST00000394204.1_Intron	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	433	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTGGTTCCACGGGCGCATTT	0.617																																						uc002hsr.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1297-1299)caC>caA		Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.							104	108	107					17																	37902194		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902194C>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1299C>A	17.37:g.37902194C>A	ENSP00000310771:p.His433Gln					GRB7_uc002hss.3_Missense_Mutation_p.H433Q|GRB7_uc021twu.1_Missense_Mutation_p.H456Q|GRB7_uc010cwc.3_Missense_Mutation_p.H433Q|GRB7_uc002hst.3_Intron	p.H433Q	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		12	1574	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		433			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1299C>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495509	0.44352	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.21	-4.05	0.03998	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72520	-0.4268	10	0.87932	D	0	-17.9623	12.9967	0.58650	0.0:0.5169:0.0:0.4831	.	433	Q14451	GRB7_HUMAN	Q	433;433;433;456	ENSP00000310771:H433Q;ENSP00000377761:H433Q;ENSP00000377759:H433Q;ENSP00000403459:H456Q	ENSP00000310771:H433Q	H	+	3	2	GRB7	35155720	0.000000	0.05858	0.958000	0.39756	0.080000	0.17528	-1.912000	0.01582	-0.948000	0.03668	-0.768000	0.03414	CAC		0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		A	37902194	C	A	37902194	3	1	76	1	0	0	0	0	1	0	0	0	6759	535	19	5	1345	5	GRB7	17	37902194	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	30149439	37902194	43293016	76	5117											
GSDMA	284110	broad.mit.edu	37	chr17	38133285	38133285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgcaggcctctctctcCttcagcagcttaccaaggcc	7	12	7	15	0	3	0	1	0	2	0	5	0	3	0	4	2	4	3	4	2	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:38133285C>T	ENST00000301659.4	+	12	1430	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	438					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCTCTCTCTCCTTCAGCAGCT	0.557																																						uc002htl.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1312-1314)Ctt>Ttt		Homo sapiens gasdermin A (GSDMA), mRNA.							106	106	106					17																	38133285		1969	4164	6133	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133285C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1312C>T	17.37:g.38133285C>T	ENSP00000301659:p.Leu438Phe					GSDMA_uc002htm.1_Missense_Mutation_p.L438F	p.L438F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN			11	1430	+			438					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1312C>T	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170475	0.38315	.	.	ENSG00000167914	ENST00000301659	T	0.59224	0.28	5.85	2.69	0.31865	.	0.000000	0.53938	D	0.000051	T	0.49236	0.1545	M	0.64997	1.995	0.35551	D	0.803893	B	0.14805	0.011	B	0.12837	0.008	T	0.54214	-0.8327	10	0.52906	T	0.07	-3.8211	5.5671	0.17177	0.1573:0.6764:0.0:0.1663	.	438	Q96QA5	GSDMA_HUMAN	F	438	ENSP00000301659:L438F	ENSP00000301659:L438F	L	+	1	0	GSDMA	35386811	0.961000	0.32948	1.000000	0.80357	0.784000	0.44337	0.629000	0.24538	0.815000	0.34398	0.561000	0.74099	CTT		0.557	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		T	38133285	C	T	38133285	3	4	76	1	0	0	0	0	1	0	0	0	6816	681	24	3	1354	3	GSDMA	17	38133285	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	231091	38133285	43061925	77	5118											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262218	39262218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccacttgctatcgcccaaCctgtgtcatctccagctgcc	7	10	6	18	1	2	0	1	0	1	0	4	0	2	0	5	0	4	2	5	0	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:39262218C>A	ENST00000391415.1	+	1	635	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	193					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TATCGCCCAACCTGTGTCATC	0.647																																						uc010wfp.2																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(577-579)aCc>aAc		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							53	61	58					17																	39262218		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39262218C>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.578C>A	17.37:g.39262218C>A	ENSP00000375234:p.Thr193Asn						p.T193N	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	578	+			193						Missense_Mutation	SNP	ENST00000391415.1	37	c.578C>A	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	3.270	-0.149222	0.06585	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00614	6.21	2.08	1.1	0.20463	.	0.229512	0.21514	U	0.073338	T	0.00967	0.0032	M	0.72894	2.215	0.26443	N	0.975734	B	0.34349	0.45	B	0.37239	0.244	T	0.40869	-0.9540	10	0.59425	D	0.04	.	4.4508	0.11619	0.0:0.6647:0.0:0.3353	.	193	Q9BYQ8	KRA49_HUMAN	N	181;193;184	ENSP00000375234:T193N	ENSP00000334461:T184N	T	+	2	0	KRTAP4-9	36515744	0.028000	0.19301	1.000000	0.80357	0.117000	0.20001	-1.113000	0.03296	0.455000	0.26910	-1.111000	0.02071	ACC		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		A	39262218	C	A	39262218	3	1	76	1	0	0	0	0	1	0	0	0	8557	507	18	5	580	5	KRTAP4-9	17	39262218	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	1128933	39262218	41932992	78	5119											
MPO	4353	broad.mit.edu	37	chr17	56355275	56355275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcagcagggcccggcCgttgtcttggaagcgctggt	7	7	17	10	3	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:56355275C>T	ENST00000225275.3	-	7	1293	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.G405S	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	373					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGGGCCCGGCCGTTGTCTTGG	0.652																																						uc002ivu.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1117-1119)Ggc>Agc		Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	Cefdinir(DB00535)						62	62	62					17																	56355275		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355275C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1117G>A	17.37:g.56355275C>T	ENSP00000225275:p.Gly373Ser						p.G373S	NM_000250	NP_000241	P05164	PERM_HUMAN			6	1294	-			373					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1117G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112548	0.77210	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.75704	-0.96;-0.96	5.32	4.35	0.52113	.	0.154636	0.56097	D	0.000025	D	0.87597	0.6217	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89435	0.3719	10	0.66056	D	0.02	-34.2314	12.7969	0.57564	0.0:0.9214:0.0:0.0786	.	373	P05164	PERM_HUMAN	S	405;373	ENSP00000344419:G405S;ENSP00000225275:G373S	ENSP00000225275:G373S	G	-	1	0	MPO	53710274	1.000000	0.71417	0.918000	0.36340	0.561000	0.35649	5.895000	0.69814	1.260000	0.44134	0.561000	0.74099	GGC		0.652	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			T	56355275	C	T	56355275	3	4	76	1	0	0	0	0	1	0	0	0	9732	652	23	2	1144	2	MPO	17	56355275	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	17093057	56355275	24839935	79	5120											
DNAH17	9489	broad.mit.edu	37	chr17	76420030	76420030	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccaggatccacttcGctgccttctctttggtcttc	3	14	9	15	2	2	0	0	0	2	0	6	1	3	1	3	3	2	2	3	3	0	4	rs143246806	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:76420030G>A	ENST00000262764.6	+	10	1707				PGS1_ENST00000588281.1_Intron|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000585328.1_Missense_Mutation_p.A4444V|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A4472V|PGS1_ENST00000329897.7_Intron	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GATCCACTTCGCTGCCTTCTC	0.567																																					Esophageal Squamous(45;182 1126 10685 43198)	uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13345-13347)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							132	128	130					17																	76420030		2203	4300	6503	SO:0001627	intron_variant	8632							g.chr17:76420030G>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1669-112G>A	17.37:g.76420030G>A						PGS1_uc002jvm.3_Intron|PGS1_uc010wtt.2_Intron|PGS1_uc010dho.3_Intron|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Intron|DNAH17_uc002jvq.3_Missense_Mutation_p.A734V|DNAH17_uc002jvs.3_Non-coding_Transcript	p.A4449V	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13471	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13346C>T	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864011	0.91511	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08720	3.06	5.23	5.23	0.72850	.	0.107759	0.41194	D	0.000933	T	0.22166	0.0534	M	0.83953	2.67	0.48696	D	0.999695	P	0.46578	0.88	P	0.46659	0.523	T	0.01800	-1.1271	10	0.59425	D	0.04	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	4444	E7EUM8	.	V	4444;4472	ENSP00000374490:A4472V	ENSP00000300671:A4444V	A	-	2	0	DNAH17	73931625	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	9.050000	0.93843	2.713000	0.92767	0.655000	0.94253	GCG		0.567	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		A	76420030	G	A	76420030	1	1	76	0	1	0	0	0	0	0	0	0	4601	1087	38	1		1	DNAH17	17	76420030	Intron	SNP	G	TCGA-06-2558-01A-01D-1494-08	20064755	76420030	4775180	80	5121											
TCF4	6925	broad.mit.edu	37	chr18	52921829	52921829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaatgattccatgcatgtCcccatgaccaccaggcatag	11	9	7	14	0	0	2	0	2	0	0	3	2	3	2	6	1	1	2	6	1	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:52921829C>T	ENST00000356073.4	-	15	1860	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	TCF4_ENST00000570177.2_Missense_Mutation_p.D287N|TCF4_ENST00000354452.3_Missense_Mutation_p.D417N|TCF4_ENST00000568673.1_Missense_Mutation_p.D393N|TCF4_ENST00000543082.1_Missense_Mutation_p.D375N|TCF4_ENST00000566279.1_Missense_Mutation_p.D357N|TCF4_ENST00000561992.1_Missense_Mutation_p.D287N|TCF4_ENST00000544241.2_Missense_Mutation_p.D346N|TCF4_ENST00000566286.1_Missense_Mutation_p.D414N|TCF4_ENST00000564999.1_Missense_Mutation_p.D417N|TCF4_ENST00000565018.2_Missense_Mutation_p.D417N|TCF4_ENST00000537856.3_Missense_Mutation_p.D287N|TCF4_ENST00000564228.1_Missense_Mutation_p.D346N|TCF4_ENST00000540999.1_Missense_Mutation_p.D393N|TCF4_ENST00000537578.1_Missense_Mutation_p.D393N|TCF4_ENST00000457482.3_Missense_Mutation_p.D257N|TCF4_ENST00000568740.1_Missense_Mutation_p.D392N|TCF4_ENST00000564403.2_Missense_Mutation_p.D423N|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Missense_Mutation_p.D257N|TCF4_ENST00000570287.2_Missense_Mutation_p.D257N|TCF4_ENST00000398339.1_Missense_Mutation_p.D519N|TCF4_ENST00000567880.1_Missense_Mutation_p.D357N	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	417					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGCATGTCCCCATGACCA	0.502																																						uc002lga.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1555-1557)Gac>Aac		Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.							121	109	113					18																	52921829		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52921829C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1249G>A	18.37:g.52921829C>T	ENSP00000348374:p.Asp417Asn					TCF4_uc021ukg.1_Missense_Mutation_p.D257N|TCF4_uc021ukh.1_Missense_Mutation_p.D257N|TCF4_uc002lfw.4_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc021uki.1_Missense_Mutation_p.D346N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc021ukj.1_Missense_Mutation_p.D357N|TCF4_uc021ukk.1_Missense_Mutation_p.D357N|TCF4_uc021ukl.1_Missense_Mutation_p.D414N|TCF4_uc002lfz.2_Missense_Mutation_p.D417N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010dpi.3_Missense_Mutation_p.D423N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N	p.D519N	NM_001243226	NP_001230155	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	15	1615	-			417					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1555G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539590	0.96474	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.62	5.62	0.85841	.	0.046947	0.85682	D	0.000000	T	0.73071	0.3540	M	0.80508	2.5	0.80722	D	1	P;D;D;P;P;P;P;P;P	0.58620	0.693;0.983;0.983;0.944;0.905;0.941;0.941;0.554;0.675	P;P;P;P;B;P;P;B;B	0.61800	0.58;0.894;0.691;0.818;0.403;0.69;0.786;0.279;0.311	T	0.76564	-0.2913	10	0.87932	D	0	-17.9081	18.4277	0.90614	0.0:1.0:0.0:0.0	.	393;417;257;519;417;375;346;257;414	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	N	417;257;417;375;393;393;346;287;519	ENSP00000346440:D417N;ENSP00000409447:D257N;ENSP00000348374:D417N;ENSP00000439656:D375N;ENSP00000445202:D393N;ENSP00000440731:D393N;ENSP00000441562:D346N;ENSP00000439827:D287N;ENSP00000381382:D519N	ENSP00000346440:D417N	D	-	1	0	TCF4	51072827	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.653000	0.90120	0.585000	0.79938	GAC		0.502	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		T	52921829	C	T	52921829	3	4	76	1	0	0	0	0	1	0	0	0	15692	855	30	3	786	3	TCF4	18	52921829	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		52921829	25155419	81	5122											
SOCS6	9306	broad.mit.edu	37	chr18	67992070	67992070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatatggccagctgcgatAtcaacggtgaagatgaaaaa	17	7	11	6	2	1	4	1	2	0	2	1	5	1	4	1	2	3	1	1	2	7	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:67992070A>G	ENST00000397942.3	+	2	482	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	SOCS6_ENST00000582322.1_Missense_Mutation_p.I56V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	56					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAGCTGCGATATCAACGGTGA	0.428																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(166-168)Atc>Gtc		Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.							95	95	95					18																	67992070		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992070A>G	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.166A>G	18.37:g.67992070A>G	ENSP00000381034:p.Ile56Val					SOCS6_uc010dqq.2_Missense_Mutation_p.I56V|SOCS6_uc021ulj.1_Missense_Mutation_p.I56V	p.I56V	NM_004232	NP_004223	O14544	SOCS6_HUMAN			1	482	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	56					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.166A>G	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032623	0.19590	.	.	ENSG00000170677	ENST00000397942	T	0.24908	1.83	5.4	-3.08	0.05347	.	0.494865	0.19031	N	0.124543	T	0.12433	0.0302	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14924	-1.0455	10	0.35671	T	0.21	-5.5596	7.8139	0.29247	0.3505:0.4593:0.1902:0.0	.	56	O14544	SOCS6_HUMAN	V	56	ENSP00000381034:I56V	ENSP00000381034:I56V	I	+	1	0	SOCS6	66143050	0.000000	0.05858	0.000000	0.03702	0.776000	0.43924	-0.327000	0.07955	-0.545000	0.06224	0.459000	0.35465	ATC		0.428	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			G	67992070	A	G	67992070	3	3	76	1	0	0	0	0	1	0	0	0	14918	449	16	4	168	4	SOCS6	18	67992070	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	15070241	67992070	10085178	82	5123											
HMHA1	23526	broad.mit.edu	37	chr19	1083208	1083208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcgtgttcgggcccacGctgcttcggccacggcccac	4	7	13	17	5	0	0	0	0	0	0	3	0	0	0	3	4	1	4	3	4	0	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:1083208G>A	ENST00000313093.2	+	21	3042	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	HMHA1_ENST00000543365.1_Silent_p.T820T|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000536472.1_Silent_p.T805T|HMHA1_ENST00000590577.1_Silent_p.T572T|HMHA1_ENST00000539243.2_Silent_p.T953T|HMHA1_ENST00000586866.1_Silent_p.T941T|HMHA1_ENST00000590214.1_Silent_p.T964T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	937	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCCCACGCTGCTTCGGC	0.672																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2809-2811)acG>acA		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							45	37	40					19																	1083208		2201	4300	6501	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1083208G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2811G>A	19.37:g.1083208G>A						HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T	p.T937T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	3042	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	937			Rho-GAP.		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.2811G>A	CCDS32863.1																																																																																				0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1083208	G	A	1083208	2	1	76	1	0	0	0	0	0	0	0	1	7240	1074	38	1		1	HMHA1	19	1083208	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		1083208	58045775	83	5124											
FARSA	2193	broad.mit.edu	37	chr19	13035595	13035595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaatacgcggtcgatggaGaagtacttgaccggagtgaa	12	7	15	7	5	0	3	0	2	0	1	1	7	0	5	1	4	2	1	1	4	5	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:13035595G>A	ENST00000314606.4	-	10	1071	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	FARSA_ENST00000588025.1_Silent_p.F391F|FARSA_ENST00000423140.2_Silent_p.F320F	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	351					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGTCGATGGAGAAGTACTTGA	0.612																																						uc002mvs.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(1051-1053)ttC>ttT		Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	L-Phenylalanine(DB00120)						90	91	91					19																	13035595		2203	4300	6503	SO:0001819	synonymous_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13035595G>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1053C>T	19.37:g.13035595G>A						FARSA_uc010xmv.1_Silent_p.F320F	p.F351F	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			9	1101	-			351					B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	c.1053C>T	CCDS12287.1																																																																																				0.612	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		A	13035595	G	A	13035595	2	1	76	1	0	0	0	0	0	0	0	1	5679	933	33	3		3	FARSA	19	13035595	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	11952387	13035595	46093388	84	5125											
C20orf54	113278	broad.mit.edu	37	chr20	744614	744614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagggtgcttccattcCggggagggcggacaccaaag	10	5	16	10	2	0	0	0	0	0	0	2	3	2	3	3	6	1	1	3	6	2	2	rs565998859		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:744614C>T	ENST00000217254.7	-	3	842	c.601G>A	c.(601-603)Gga>Aga	p.G201R	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G201R	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	201					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GCTTCCATTCCGGGGAGGGCG	0.587													C|||	1	0.000199681	0	0	5008	,	,		17950	0		0	False		,,,				2504	0.001					uc002wed.4																			0											c.(601-603)Gga>Aga		Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.							29	26	27					20																	744614		2201	4298	6499	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744614C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.601G>A	20.37:g.744614C>T	ENSP00000217254:p.Gly201Arg					SLC52A3_uc002wee.2_Missense_Mutation_p.G201R	p.G201R	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	940	-			201					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.601G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766397	0.02974	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.72051	-0.62;-0.62	2.49	-3.89	0.04193	.	3.044690	0.01024	N	0.004033	T	0.47600	0.1454	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.37407	-0.9707	10	0.15952	T	0.53	.	8.1589	0.31187	0.0:0.3795:0.0:0.6205	.	201;201	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	R	201	ENSP00000217254:G201R;ENSP00000371370:G201R	ENSP00000217254:G201R	G	-	1	0	C20orf54	692614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.457000	0.06745	-0.992000	0.03472	-1.326000	0.01283	GGA		0.587	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		T	744614	C	T	744614	3	4	76	1	0	0	0	0	1	0	0	0	2114	661	23	2	820	2	C20orf54	20	744614	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		744614	62280906	85	5126											
PCSK2	5126	broad.mit.edu	37	chr20	17434509	17434509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcaactcagccatcaaCgacggcaggactgccctgta	11	7	8	15	2	3	0	3	0	0	0	4	2	4	1	3	2	4	2	3	2	3	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:17434509C>T	ENST00000262545.2	+	9	1323	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	PCSK2_ENST00000377899.1_Silent_p.N317N|PCSK2_ENST00000536609.1_Silent_p.N301N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	336	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAGCCATCAACGACGGCAGGA	0.617																																						uc002wpm.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1006-1008)aaC>aaT		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151	113	126					20																	17434509		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434509C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1008C>T	20.37:g.17434509C>T						PCSK2_uc002wpl.3_Silent_p.N317N|PCSK2_uc010zrm.2_Silent_p.N301N	p.N336N	NM_002594	NP_001188457	P16519	NEC2_HUMAN			8	1362	+			336			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1008C>T	CCDS13125.1																																																																																				0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17434509	C	T	17434509	2	4	76	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCSK2	20	17434509	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	16689895	17434509	45591011	86	5127											
PRIC285	85441	broad.mit.edu	37	chr20	62198633	62198633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgcatgtggtcgcccGccagcacgaggcgggtgccg	5	6	16	14	5	0	1	0	1	0	0	1	2	0	1	4	3	3	2	4	3	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:62198633G>A	ENST00000467148.1	-	6	2147	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Missense_Mutation_p.A124V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	693	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGGTCGCCCGCCAGCACGAG	0.682																																						uc002yfm.2																			0		p.L692L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(2077-2079)gCg>gTg		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							13	17	15					20																	62198633		2137	4188	6325	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198633G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2078C>T	20.37:g.62198633G>A	ENSP00000417401:p.Ala693Val					PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	p.A693V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	2970	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		693					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2078C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027804	0.75390	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.73575	-0.76;-0.76	4.67	4.67	0.58626	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	L	0.37630	1.12	0.49051	D	0.999749	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.73285	-0.4031	10	0.11182	T	0.66	-21.7097	17.5685	0.87927	0.0:0.0:1.0:0.0	.	693;124	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	124;693	ENSP00000393257:A124V;ENSP00000417401:A693V	ENSP00000393257:A124V	A	-	2	0	RP4-697K14.7	61669077	1.000000	0.71417	0.743000	0.31040	0.087000	0.18053	7.552000	0.82192	2.173000	0.68751	0.549000	0.68633	GCG		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62198633	G	A	62198633	3	1	76	1	0	0	0	0	1	0	0	0	12485	1087	38	1	5927	1	PRIC285	20	62198633	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	44764124	62198633	826887	87	5128											
SAMSN1	64092	broad.mit.edu	37	chr21	15858270	15858270	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataataatcttatgtaccAtgtcagacagattttcagac	14	14	6	7	0	3	4	2	1	1	3	3	4	3	4	1	0	1	1	1	0	4	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr21:15858270A>T	ENST00000400566.1	-	8	1166	c.1085T>A	c.(1084-1086)aTg>aAg	p.M362K	SAMSN1_ENST00000400564.1_Missense_Mutation_p.M194K|SAMSN1_ENST00000285670.2_Missense_Mutation_p.M430K	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	362					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTATGTACCATGTCAGACAG	0.398																																						uc002yju.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(1084-1086)aTg>aAg		Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.							176	160	165					21																	15858270		1865	4122	5987	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15858270A>T	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.1085T>A	21.37:g.15858270A>T	ENSP00000383411:p.Met362Lys					SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	p.M362K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	1167	-			362					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.1085T>A	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999678	0.35320	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T	0.42900	0.96;1.01	6.08	4.92	0.64577	.	0.302388	0.38436	N	0.001691	T	0.46852	0.1414	M	0.72479	2.2	0.48511	D	0.999664	P;P;P	0.51933	0.763;0.949;0.651	B;P;B	0.46543	0.311;0.52;0.165	T	0.44283	-0.9338	10	0.31617	T	0.26	-23.5298	12.4261	0.55548	0.9339:0.0:0.0661:0.0	.	194;430;362	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	K	430;362;194	ENSP00000285670:M430K;ENSP00000383411:M362K	ENSP00000285670:M430K	M	-	2	0	SAMSN1	14780141	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	3.005000	0.49521	2.333000	0.79357	0.482000	0.46254	ATG		0.398	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			T	15858270	A	T	15858270	3	4	76	1	0	0	0	0	1	0	0	0	13830	217	8	5	40	5	SAMSN1	21	15858270	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08		15858270	32271625	88	5129											
PIR	8544	broad.mit.edu	37	chrX	15509315	15509315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatgcttctccggaccctCgctccaaccccttccgactg	6	9	6	20	3	1	0	0	0	1	0	5	2	3	1	7	1	2	2	7	1	2	2	rs370522973		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:15509315C>T	ENST00000380421.3	-	2	526	c.66G>A	c.(64-66)gcG>gcA	p.A22A	BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_Silent_p.A22A|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	22					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(64-66)gcG>gcA		Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.		C	,	1,3834		0,0,1,1632,570	159	144	149		66,66	-11.1	0	X		149	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	PIR	NM_001018109.2,NM_003662.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	22/291,22/291	15509315	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509315C>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.66G>A	X.37:g.15509315C>T						FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.A22A|BMX_uc004cww.3_Intron	p.A22A	NM_003662	NP_003653	O00625	PIR_HUMAN			1	551	-	Hepatocellular(33;0.183)		22					Q5U0G0|Q6FHD2	Silent	SNP	ENST00000380421.3	37	c.66G>A	CCDS14167.1																																																																																				0.522	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		T	15509315	C	T	15509315	2	4	76	1	0	0	0	0	0	0	0	1	11944	871	31	2		2	PIR	23	15509315	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		15509315	139761245	89	5130											
KLHL34	257240	broad.mit.edu	37	chrX	21675201	21675201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagagcccgagtacaCgcgccgcagtacgtcggcgg	8	3	16	14	7	0	1	0	0	0	1	1	3	0	1	3	3	3	3	3	3	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:21675201C>T	ENST00000379499.2	-	1	1247	c.706G>A	c.(706-708)Gtg>Atg	p.V236M		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	236	BACK.					extracellular space (GO:0005615)		p.V236M(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGAGTACACGCGCCGCAGT	0.667																																						uc004czz.1																			1	Substitution - Missense(1)	p.V236M(2)	endometrium(1)	cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(706-708)Gtg>Atg		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							18	17	17					X																	21675201		2200	4291	6491	SO:0001583	missense	257240							g.chrX:21675201C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.706G>A	X.37:g.21675201C>T	ENSP00000368813:p.Val236Met						p.V236M	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	1248	-			236			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.706G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	3.828	-0.036284	0.07497	.	.	ENSG00000185915	ENST00000379499	T	0.69685	-0.42	4.65	1.83	0.25207	BTB/Kelch-associated (2);	0.338406	0.27966	N	0.017137	T	0.49795	0.1578	L	0.36672	1.1	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.39820	-0.9595	10	0.49607	T	0.09	.	4.4061	0.11409	0.0:0.3588:0.1668:0.4745	.	236	Q8N239	KLH34_HUMAN	M	236	ENSP00000368813:V236M	ENSP00000368813:V236M	V	-	1	0	KLHL34	21585122	0.024000	0.19004	0.995000	0.50966	0.317000	0.28152	0.118000	0.15605	0.061000	0.16311	0.422000	0.28245	GTG		0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		T	21675201	C	T	21675201	3	4	76	1	0	0	0	0	1	0	0	0	8387	536	19	1	1232	1	KLHL34	23	21675201	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	6165886	21675201	133595359	90	5131											
FAM47B	170062	broad.mit.edu	37	chrX	34962438	34962438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaccgatcaagaccaaaAgattaagaaggcaaacgagt	21	4	8	8	2	1	3	1	0	0	3	1	5	1	3	2	1	3	1	2	1	8	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:34962438A>T	ENST00000329357.5	+	1	1526	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	497										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGACCAAAAGATTAAGAAG	0.468																																						uc004ddi.2																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1489-1491)aAg>aTg		Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.							113	104	107					X																	34962438		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962438A>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1490A>T	X.37:g.34962438A>T	ENSP00000328307:p.Lys497Met						p.K497M	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			0	1526	+			497					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1490A>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265173	0.23136	.	.	ENSG00000189132	ENST00000329357	T	0.44482	0.92	0.235	0.235	0.15431	.	.	.	.	.	T	0.48095	0.1481	M	0.65975	2.015	0.09310	N	1	D	0.59767	0.986	P	0.53360	0.724	T	0.35425	-0.9789	8	0.49607	T	0.09	.	.	.	.	.	497	Q8NA70	FA47B_HUMAN	M	497	ENSP00000328307:K497M	ENSP00000328307:K497M	K	+	2	0	FAM47B	34872359	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.543000	0.23237	0.245000	0.21373	0.242000	0.17961	AAG		0.468	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		T	34962438	A	T	34962438	3	4	76	1	0	0	0	0	1	0	0	0	5570	72	3	5	1492	5	FAM47B	23	34962438	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13287237	34962438	120308122	91	5132											
CXorf27	25763	broad.mit.edu	37	chrX	37850145	37850145	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaataacaaccagactcAagacccttctagaaatgagc	18	7	5	11	0	2	4	1	1	1	3	2	4	2	4	2	0	4	0	2	0	7	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:37850145A>T	ENST00000341016.3	+	1	76	c.53A>T	c.(52-54)cAa>cTa	p.Q18L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		18										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AACCAGACTCAAGACCCTTCT	0.458																																						uc004ddt.4																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						c.(52-54)cAa>cTa		Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.							69	61	64					X																	37850145		1923	4130	6053	SO:0001583	missense	25763						DNA binding	g.chrX:37850145A>T																												ENST00000341016.3:c.53A>T	X.37:g.37850145A>T	ENSP00000339511:p.Gln18Leu						p.Q18L	NM_012274	NP_036406	O75409	HYPM_HUMAN			0	76	+			18					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.53A>T	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245371	0.39697	.	.	ENSG00000187516	ENST00000341016	T	0.42131	0.98	2.84	-1.52	0.08637	Histone-fold (2);	.	.	.	.	T	0.22551	0.0544	L	0.27053	0.805	0.09310	N	1	B	0.24576	0.106	B	0.20184	0.028	T	0.19647	-1.0299	9	0.23302	T	0.38	.	3.47	0.07563	0.5573:0.1762:0.0:0.2664	.	18	O75409	HYPM_HUMAN	L	18	ENSP00000339511:Q18L	ENSP00000339511:Q18L	Q	+	2	0	CXorf27	37735089	0.009000	0.17119	0.000000	0.03702	0.004000	0.04260	0.000000	0.12993	-0.417000	0.07461	0.486000	0.48141	CAA		0.458	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			T	37850145	A	T	37850145	3	4	76	1	0	0	0	0	1	0	0	0	4105	130	5	5	55	5	CXorf27	23	37850145	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	2887707	37850145	117420415	92	5133											
BCOR	54880	broad.mit.edu	37	chrX	39921626	39921626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgggctccggccgcttTctgaatctccggacagtcac	7	9	11	14	3	3	1	1	1	2	0	5	3	4	2	3	3	1	2	3	3	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:39921626T>C	ENST00000378444.4	-	10	4422	c.4194A>G	c.(4192-4194)agA>agG	p.R1398R	BCOR_ENST00000378463.1_Silent_p.R241R|BCOR_ENST00000397354.3_Silent_p.R1364R|BCOR_ENST00000378455.4_Silent_p.R1346R|BCOR_ENST00000342274.4_Silent_p.R1364R	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1398					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGCCGCTTTCTGAATCTCC	0.587			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4192-4194)agA>agG		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							51	38	42					X																	39921626		2202	4299	6501	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39921626T>C	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4194A>G	X.37:g.39921626T>C						BCOR_uc004dep.4_Silent_p.R1364R|BCOR_uc004deo.4_Silent_p.R1346R|BCOR_uc010nhb.3_Silent_p.R106R|BCOR_uc004dem.4_Silent_p.R1364R	p.R1398R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			9	4486	-			1398					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4194A>G	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192444	0.21954	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.71	-3.19	0.05171	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.39755	D	0.97194	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	-13.502	7.3724	0.26808	0.0:0.4436:0.2448:0.3116	.	.	.	.	G	93	.	.	E	-	2	0	BCOR	39806570	0.011000	0.17503	0.060000	0.19600	0.918000	0.54935	-1.649000	0.01993	-0.564000	0.06070	0.486000	0.48141	GAA		0.587	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		C	39921626	T	C	39921626	2	2	76	1	0	0	0	0	0	0	0	1	1386	1780	62	4		4	BCOR	23	39921626	Silent	SNP	T	TCGA-06-2558-01A-01D-1494-08	2071481	39921626	115348934	93	5134											
DGKK	139189	broad.mit.edu	37	chrX	50134485	50134485	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgttgaggatgtccagAggtgacttgcttttgttcca	7	15	11	8	0	1	3	0	2	1	1	3	4	3	4	2	2	1	3	2	2	0	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:50134485A>C	ENST00000376025.2	-	0	1853							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGATGTCCAGAGGTGACTTGC	0.537																																						uc010njr.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1792-1794)ccT>ccG		Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.							182	165	171					X																	50134485		2057	4175	6232			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50134485A>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50134485A>C							p.P598P	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			10	1838	-	Ovarian(276;0.236)		598			DAGKc.		B2RP91	Silent	SNP	ENST00000376025.2	37	c.1794T>G																																																																																					0.537	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		C	50134485	A	C	50134485	1	2	76	0	1	0	0	0	0	0	0	0	4472	291	11	5		5	DGKK	23	50134485	RNA	SNP	A	TCGA-06-2558-01A-01D-1494-08	10212859	50134485	105136075	94	5135											
NAP1L2	4674	broad.mit.edu	37	chrX	72433530	72433530	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatatctgtcaggagctTcagaataggctcatcatatt	12	15	7	7	0	5	1	4	0	1	1	5	2	5	2	0	2	1	2	0	2	5	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:72433530T>A	ENST00000373517.3	-	1	1154	c.799A>T	c.(799-801)Aag>Tag	p.K267*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.K125*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	267					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTCAGGAGCTTCAGAATAGGC	0.368																																						uc004ebi.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(799-801)Aag>Tag		Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.							44	42	42					X																	72433530		2202	4300	6502	SO:0001587	stop_gained	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433530T>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.799A>T	X.37:g.72433530T>A	ENSP00000362616:p.Lys267*						p.K267*	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			0	1181	-	Renal(35;0.156)		267					B2RE61|B4E161|Q8TAN6	Nonsense_Mutation	SNP	ENST00000373517.3	37	c.799A>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	39	7.342596	0.98224	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	.	.	.	3.65	3.65	0.41850	.	0.051469	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7291	9.9521	0.41645	0.0:0.0:0.0:1.0	.	.	.	.	X	267;125	.	ENSP00000362616:K267X	K	-	1	0	NAP1L2	72350255	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.516000	0.53436	1.411000	0.46957	0.339000	0.21740	AAG		0.368	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		A	72433530	T	A	72433530	4	1	76	1	0	0	0	0	0	1	0	0	10157	1792	62	5	587	5	NAP1L2	23	72433530	Nonsense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	22299045	72433530	82837030	95	5136											
PCDH11X	27328	broad.mit.edu	37	chrX	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctggcatccagttgaCgaaagtaagtgcaatggatg	11	10	11	9	1	1	1	0	1	1	0	3	3	2	2	2	2	1	4	2	2	3	2	rs62621113		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:91132696C>T	ENST00000373094.1	+	2	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_ENST00000361724.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T486M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T486M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1456-1458)aCg>aTg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							99	82	88					X																	91132696		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132696C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1457C>T	X.37:g.91132696C>T	ENSP00000362186:p.Thr486Met					PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2302	+			486			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1457C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873758	0.17322	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.049108	0.85682	D	0.000000	T	0.60379	0.2264	L	0.41906	1.305	0.51012	D	0.999908	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.80764	0.975;0.967;0.99;0.99;0.99;0.994;0.958;0.958	T	0.57365	-0.7824	10	0.34782	T	0.22	.	17.0331	0.86466	0.0:1.0:0.0:0.0	rs62621113	486;486;486;486;486;486;486;486	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	486	ENSP00000378746:T486M;ENSP00000362186:T486M;ENSP00000362189:T486M;ENSP00000355040:T486M;ENSP00000362180:T486M;ENSP00000423762:T486M;ENSP00000355105:T486M;ENSP00000384758:T486M;ENSP00000298274:T486M	ENSP00000298274:T486M	T	+	2	0	PCDH11X	91019352	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	5.760000	0.68793	2.231000	0.72958	0.544000	0.68410	ACG		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91132696	C	T	91132696	3	4	76	1	0	0	0	0	1	0	0	0	11508	536	19	1	1463	1	PCDH11X	23	91132696	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	18699166	91132696	64137864	96	5137											
FAM70A	55026	broad.mit.edu	37	chrX	119410875	119410875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacatcgatgtattcGtagtacccaccagtgatctc	9	12	8	12	2	1	2	0	2	1	0	4	3	1	2	2	0	2	4	2	0	3	4	rs372830851		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:119410875G>A	ENST00000309720.5	-	8	735	c.612C>T	c.(610-612)taC>taT	p.Y204Y	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Silent_p.Y40Y|TMEM255A_ENST00000371369.4_Silent_p.Y180Y	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	204						integral component of membrane (GO:0016021)											CGATGTATTCGTAGTACCCAC	0.582																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(610-612)taC>taT		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.		G	,,	1,3834		0,1,1631,571	233	171	192		540,,612	-2.7	0.9	X		192	0,6728		0,0,2428,1872	no	coding-synonymous,intron,coding-synonymous	FAM70A	NM_001104544.1,NM_001104545.1,NM_017938.3	,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,	180/326,,204/350	119410875	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119410875G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.612C>T	X.37:g.119410875G>A						FAM70A_uc004esp.4_Silent_p.Y180Y|FAM70A_uc010nqo.3_Intron	p.Y204Y	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	839	-			204					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.612C>T	CCDS14597.1																																																																																				0.582	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		A	119410875	G	A	119410875	2	1	76	1	0	0	0	0	0	0	0	1	5605	1140	40	1		1	FAM70A	23	119410875	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	28278179	119410875	35859685	97	5138											
MTHFR	4524	broad.mit.edu	37	chr1	11861244	11861244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgccatgatgttcttcAggcccagctgcttagctttg	6	12	11	12	1	2	1	1	1	1	0	2	1	2	1	2	1	4	5	2	1	1	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:11861244A>G	ENST00000376592.1	-	2	577	c.449T>C	c.(448-450)cTg>cCg	p.L150P	MTHFR_ENST00000376590.3_Missense_Mutation_p.L150P|MTHFR_ENST00000376585.1_Missense_Mutation_p.L191P|MTHFR_ENST00000376583.3_Missense_Mutation_p.L191P			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	150					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GATGTTCTTCAGGCCCAGCTG	0.602																																						uc001atb.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(517-519)cTg>cCg		Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						95	92	93					1																	11861244		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11861244A>G	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.449T>C	1.37:g.11861244A>G	ENSP00000365777:p.Leu150Pro					MTHFR_uc001atc.2_Missense_Mutation_p.L150P	p.L173P	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	1	716	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	150					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.518T>C	CCDS137.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009281	0.93346	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.66	5.66	0.87406	.	0.074981	0.56097	D	0.000030	D	0.96396	0.8824	M	0.79805	2.47	0.80722	D	1	P;D	0.61080	0.948;0.989	P;D	0.67231	0.863;0.95	D	0.96823	0.9605	10	0.72032	D	0.01	.	14.7253	0.69341	1.0:0.0:0.0:0.0	.	150;191	P42898;Q5SNW6	MTHR_HUMAN;.	P	150;191;150;191	ENSP00000365777:L150P;ENSP00000365767:L191P;ENSP00000365775:L150P;ENSP00000365770:L191P	ENSP00000365767:L191P	L	-	2	0	MTHFR	11783831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.587000	0.90810	2.155000	0.67459	0.448000	0.29417	CTG		0.602	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		G	11861244	A	G	11861244	3	3	77	1	0	0	0	0	1	0	0	0	9931	188	7	4	1561	4	MTHFR	1	11861244	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08		11861244	237389377	1	5139											
IFI6	2537	broad.mit.edu	37	chr1	27992966	27992966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaatattacctatgaCgacgctgctgccaccagccc	10	7	8	16	2	0	1	0	1	0	0	0	2	0	1	5	1	4	3	5	1	4	3	rs74937564	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:27992966C>T	ENST00000361157.6	-	5	446	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	IFI6_ENST00000362020.4_Missense_Mutation_p.V111I|IFI6_ENST00000339145.4_Missense_Mutation_p.V115I	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	107					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTATGACGACGCTGCTG	0.542													c|||	3	0.000599042	0.0023	0	5008	,	,		16484	0		0	False		,,,				2504	0					uc001bon.1																			0				lung(1)|ovary(1)	2						c.(343-345)Gtc>Atc		Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA.		T	ILE/VAL,ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	69	61	64		319,331,343	-2	0	1	dbSNP_131	64	0,8600		0,0,4300	no	missense,missense,missense	IFI6	NM_002038.3,NM_022872.2,NM_022873.2	29,29,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign,benign	107/131,111/135,115/139	27992966	3,13003	2203	4300	6503	SO:0001583	missense	2537				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	g.chr1:27992966C>T	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"interferon, alpha-inducible protein (clone IFI-6-16)"	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.319G>A	1.37:g.27992966C>T	ENSP00000354736:p.Val107Ile					IFI6_uc001boo.1_Missense_Mutation_p.V107I|IFI6_uc001bop.1_Missense_Mutation_p.V111I	p.V115I	NM_022873	NP_075011	P09912	IFI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	466	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	107					Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	c.343G>A	CCDS306.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	0.016	-1.514999	0.00975	6.81E-4	0.0	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.31769	1.48;1.48;1.48	3.29	-1.97	0.07503	.	1.364740	0.05149	N	0.495686	T	0.12518	0.0304	N	0.05050	-0.12	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26224	-1.0109	10	0.07325	T	0.83	.	6.6641	0.23031	0.0:0.3023:0.2523:0.4455	.	111;107;115	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	I	107;115;111	ENSP00000354736:V107I;ENSP00000342513:V115I;ENSP00000355152:V111I	ENSP00000342513:V115I	V	-	1	0	IFI6	27865553	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	-0.541000	0.06099	-0.417000	0.07461	-1.841000	0.00585	GTC		0.542	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873		T	27992966	C	T	27992966	3	4	77	1	0	0	0	0	1	0	0	0	7519	536	19	1	77	1	IFI6	1	27992966	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	16131722	27992966	221257655	2	5140											
LRRC40	55631	broad.mit.edu	37	chr1	70641517	70641517	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatcattgttgcttaggTcaagcctttccaaggaccgt	10	14	8	9	1	2	0	2	0	0	0	3	1	3	1	3	2	2	2	3	2	5	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:70641517T>G	ENST00000370952.3	-	7	1032	c.953A>C	c.(952-954)gAc>gCc	p.D318A		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	318						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTGCTTAGGTCAAGCCTTTC	0.289																																						uc001der.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(952-954)gAc>gCc		Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.							80	78	79					1																	70641517		2201	4299	6500	SO:0001583	missense	55631							g.chr1:70641517T>G		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.953A>C	1.37:g.70641517T>G	ENSP00000359990:p.Asp318Ala						p.D318A	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			6	1091	-			318					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.953A>C	CCDS646.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362931	0.82353	.	.	ENSG00000066557	ENST00000370952	T	0.60299	0.2	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78710	-0.2098	10	0.54805	T	0.06	.	15.197	0.73100	0.0:0.0:0.0:1.0	.	318	Q9H9A6	LRC40_HUMAN	A	318	ENSP00000359990:D318A	ENSP00000359990:D318A	D	-	2	0	LRRC40	70414105	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.392000	0.79840	2.075000	0.62263	0.477000	0.44152	GAC		0.289	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		G	70641517	T	G	70641517	3	3	77	1	0	0	0	0	1	0	0	0	8998	1667	58	5	891	5	LRRC40	1	70641517	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	42648551	70641517	178609104	3	5141											
NEXN	91624	broad.mit.edu	37	chr1	78392171	78392171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggaaaaatgaaaaagAattttgaggatctagaaaaa	21	9	8	3	0	2	4	0	2	2	2	2	6	2	6	0	2	0	0	0	2	8	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:78392171A>T	ENST00000334785.7	+	7	746	c.562A>T	c.(562-564)Aat>Tat	p.N188Y	NEXN_ENST00000457030.1_Missense_Mutation_p.N174Y|NEXN_ENST00000330010.8_Missense_Mutation_p.N124Y	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATGAAAAAGAATTTTGAGGA	0.313																																						uc001dic.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(562-564)Aat>Tat		Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.							72	70	71					1																	78392171		1802	4063	5865	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392171A>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.562A>T	1.37:g.78392171A>T	ENSP00000333938:p.Asn188Tyr					NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.4_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	p.N188Y	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	6	859	+			188			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.562A>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.83|15.83	2.948023|2.948023	0.53186|0.53186	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.65916|.	-0.16;0.18;0.11;0.2;-0.18|.	5.52|5.52	3.19|3.19	0.36642|0.36642	.|.	0.215935|.	0.31301|.	N|.	0.007899|.	T|T	0.48370|0.48370	0.1496|0.1496	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.52061|.	0.882;0.915;0.863;0.95|.	P;P;P;P|.	0.53360|.	0.534;0.724;0.653;0.534|.	T|T	0.47235|0.47235	-0.9133|-0.9133	10|5	0.66056|.	D|.	0.02|.	-16.9232|-16.9232	9.8922|9.8922	0.41296|0.41296	0.8517:0.0:0.1483:0.0|0.8517:0.0:0.1483:0.0	.|.	124;174;188;124|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	Y|S	124;174;124;188;174|87	ENSP00000383814:N124Y;ENSP00000388048:N174Y;ENSP00000327363:N124Y;ENSP00000333938:N188Y;ENSP00000411902:N174Y|.	ENSP00000327363:N124Y|.	N|R	+|+	1|3	0|2	NEXN|NEXN	78164759|78164759	0.999000|0.999000	0.42202|0.42202	0.986000|0.986000	0.45419|0.45419	0.992000|0.992000	0.81027|0.81027	3.081000|3.081000	0.50120|0.50120	1.040000|1.040000	0.40099|0.40099	0.533000|0.533000	0.62120|0.62120	AAT|AGA		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		T	78392171	A	T	78392171	3	4	77	1	0	0	0	0	1	0	0	0	10355	246	9	5	584	5	NEXN	1	78392171	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	7750654	78392171	170858450	4	5142											
WDR63	126820	broad.mit.edu	37	chr1	85560129	85560129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagggctaatagctgtgtCggtagccgtgcgactttctt	7	13	12	9	3	2	0	1	0	1	0	3	1	2	0	1	2	3	3	1	2	3	5	rs200151954		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:85560129C>T	ENST00000294664.6	+	10	1244	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	WDR63_ENST00000370596.1_Missense_Mutation_p.S316L|WDR63_ENST00000326813.8_Missense_Mutation_p.S316L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	355										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAGCTGTGTCGGTAGCCGTG	0.418																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1063-1065)tCg>tTg		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							232	234	233					1																	85560129		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85560129C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1064C>T	1.37:g.85560129C>T	ENSP00000294664:p.Ser355Leu					WDR63_uc009wcl.3_Missense_Mutation_p.S316L	p.S355L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1255	+			355					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1064C>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509604	0.64522	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.38887	1.11;1.11;1.11	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.118609	0.64402	D	0.000018	T	0.65923	0.2738	M	0.87827	2.91	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;P	0.66716	0.946;0.884	T	0.70722	-0.4794	10	0.72032	D	0.01	-17.3453	20.0795	0.97766	0.0:1.0:0.0:0.0	.	316;355	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	316;316;355	ENSP00000359628:S316L;ENSP00000317463:S316L;ENSP00000294664:S355L	ENSP00000294664:S355L	S	+	2	0	WDR63	85332717	1.000000	0.71417	0.969000	0.41365	0.037000	0.13140	6.535000	0.73838	2.747000	0.94245	0.650000	0.86243	TCG		0.418	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		T	85560129	C	T	85560129	3	4	77	1	0	0	0	0	1	0	0	0	17311	893	31	2	1098	2	WDR63	1	85560129	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	7167958	85560129	163690492	5	5143											
HRNR	388697	broad.mit.edu	37	chr1	152192836	152192836	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctggccgtggcctggAgactggccagatccagagct	7	6	14	14	2	0	3	0	0	0	3	1	4	1	3	5	4	1	2	5	4	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:152192836A>G	ENST00000368801.2	-	3	1344	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	423					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCCTGGAGACTGGCCAG	0.617																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1267-1269)tcT>tcC		Homo sapiens hornerin (HRNR), mRNA.							77	78	77					1																	152192836		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192836A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1269T>C	1.37:g.152192836A>G							p.S423S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1345	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		423					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1269T>C	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152192836	A	G	152192836	2	3	77	1	0	0	0	0	0	0	0	1	7359	291	11	4		4	HRNR	1	152192836	Silent	SNP	A	TCGA-06-2559-01A-01D-1494-08	66632707	152192836	97057785	6	5144											
SPTA1	6708	broad.mit.edu	37	chr1	158654966	158654966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctccatgatccacttccCcagatcatctgcatctcgct	7	14	4	16	1	4	2	1	1	3	1	8	2	6	2	4	0	1	2	4	0	0	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:158654966C>T	ENST00000368147.4	-	2	376	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	66					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCACTtccccagatcatct	0.453																																						uc001fst.1																			0		p.L65M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(196-198)Ggg>Agg		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							115	110	112					1																	158654966		1930	4143	6073	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158654966C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.196G>A	1.37:g.158654966C>T	ENSP00000357129:p.Gly66Arg						p.G66R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			1	395	-	all_hematologic(112;0.0378)		66					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.196G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454441	0.63290	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	5.18	5.18	0.71444	.	0.258089	0.20325	N	0.094546	T	0.31167	0.0788	N	0.14661	0.345	0.46725	D	0.999176	B	0.28378	0.209	B	0.41271	0.352	T	0.38607	-0.9653	10	0.59425	D	0.04	.	17.4478	0.87583	0.0:1.0:0.0:0.0	.	66	P02549	SPTA1_HUMAN	R	66	ENSP00000357130:G66R;ENSP00000357129:G66R	ENSP00000357129:G66R	G	-	1	0	SPTA1	156921590	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.382000	0.66213	2.700000	0.92200	0.467000	0.42956	GGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158654966	C	T	158654966	3	4	77	1	0	0	0	0	1	0	0	0	15115	623	22	3	7267	3	SPTA1	1	158654966	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	6462130	158654966	90595655	7	5145											
LTBP1	4052	broad.mit.edu	37	chr2	33335817	33335817	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttgcggcaccttttcaGcgtgagtatagtcttatcaa	10	13	9	9	2	3	1	2	1	1	0	3	1	3	1	1	1	2	3	1	1	5	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:33335817G>A	ENST00000404816.2	+	4	1385	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	LTBP1_ENST00000354476.3_Splice_Site_p.Q344Q			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	344					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTTTTCAGCGTGAGTATA	0.423																																						uc021vft.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.e4+1		Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.							112	107	109					2																	33335817		2203	4300	6503	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33335817G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1033+1G>A	2.37:g.33335817G>A							p.L345_splice	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			4	1056	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	345					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.1033_splice	CCDS33177.2																																																																																				0.423	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Silent	A	33335817	G	A	33335817	5	1	77	1	0	0	0	0	0	0	1	0	9073	985	34	3	1046	3	LTBP1	2	33335817	Splice_Site	SNP	G	TCGA-06-2559-01A-01D-1494-08		33335817	209863556	8	5146											
KRCC1	51315	broad.mit.edu	37	chr2	88327482	88327482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacggtttctatttccacctCtgttttctttctttggatgc	4	21	6	10	1	4	0	0	0	4	0	5	1	5	1	2	2	2	2	2	2	2	8			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:88327482C>T	ENST00000347055.3	-	4	994	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	201	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						ATTTCCACCTCTGTTTTCTTT	0.398																																						uc002sso.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(601-603)Gag>Aag		Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.							150	161	157					2																	88327482		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327482C>T	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.601G>A	2.37:g.88327482C>T	ENSP00000340083:p.Glu201Lys					KRCC1_uc002ssp.1_Missense_Mutation_p.E201K|KRCC1_uc021vko.1_Missense_Mutation_p.E201K	p.E201K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN			3	995	-			201			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.601G>A	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	C	8.924	0.961838	0.18583	.	.	ENSG00000172086	ENST00000347055	T	0.32023	1.47	5.91	0.458	0.16670	.	0.367698	0.24920	N	0.034551	T	0.11965	0.0291	N	0.08118	0	0.22017	N	0.999414	B	0.19583	0.037	B	0.19148	0.024	T	0.30446	-0.9978	10	0.15499	T	0.54	.	6.6614	0.23016	0.0:0.5783:0.1284:0.2932	.	201	Q9NPI7	KRCC1_HUMAN	K	201	ENSP00000340083:E201K	ENSP00000340083:E201K	E	-	1	0	KRCC1	88108597	0.253000	0.23982	0.009000	0.14445	0.641000	0.38312	0.789000	0.26886	0.021000	0.15133	0.603000	0.83216	GAG		0.398	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		T	88327482	C	T	88327482	3	4	77	1	0	0	0	0	1	0	0	0	8441	922	32	3	182	3	KRCC1	2	88327482	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	54991665	88327482	154871891	9	5147											
IL18RAP	8807	broad.mit.edu	37	chr2	103057838	103057838	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacactggaagtagaacttgGtaagctgggcctcatcgcct	10	9	11	11	1	1	1	1	0	0	1	2	2	1	2	2	3	2	3	2	3	4	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:103057838G>T	ENST00000264260.2	+	7	1385		c.e7+1		AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Splice_Site	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein						cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTAGAACTTGGTAAGCTGGGC	0.433																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.e7+1		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							119	99	106					2																	103057838		2203	4300	6503	SO:0001630	splice_region_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103057838G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.796+1G>T	2.37:g.103057838G>T						IL18RAP_uc010fiz.3_Splice_Site_p.G124_splice	p.G266_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN			7	1280	+			266			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Splice_Site	SNP	ENST00000264260.2	37	c.796_splice	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391359	0.42410	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.93	0.63989	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL18RAP	102424270	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	4.677000	0.61634	2.365000	0.80145	0.491000	0.48974	.		0.433	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	Intron	T	103057838	G	T	103057838	5	4	77	1	0	0	0	0	0	0	1	0	7648	1275	44	5	815	5	IL18RAP	2	103057838	Splice_Site	SNP	G	TCGA-06-2559-01A-01D-1494-08	14730356	103057838	140141535	10	5148											
LRP2	4036	broad.mit.edu	37	chr2	170009381	170009381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtcaacttcctgcacaAgattattgcggccggattca	10	11	9	11	2	3	1	3	0	0	1	4	2	4	2	2	3	3	1	2	3	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170009381A>G	ENST00000263816.3	-	67	12674	c.12389T>C	c.(12388-12390)cTt>cCt	p.L4130P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4130					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTCCTGCACAAGATTATTGCG	0.478																																						uc002ues.3																			0		p.N4129N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12388-12390)cTt>cCt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						237	233	235					2																	170009381		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009381A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12389T>C	2.37:g.170009381A>G	ENSP00000263816:p.Leu4130Pro						p.L4130P	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	66	12602	-			4130					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12389T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413983	0.11870	.	.	ENSG00000081479	ENST00000263816	D	0.91295	-2.82	5.59	-4.66	0.03329	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.502542	0.23098	N	0.051949	T	0.72606	0.3481	N	0.01209	-0.955	0.44388	D	0.997298	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.29301	T	0.29	.	17.7911	0.88553	0.1862:0.0:0.8138:0.0	.	4130	P98164	LRP2_HUMAN	P	4130	ENSP00000263816:L4130P	ENSP00000263816:L4130P	L	-	2	0	LRP2	169717627	0.810000	0.29049	0.003000	0.11579	0.278000	0.26855	1.243000	0.32767	-0.948000	0.03668	-0.993000	0.02533	CTT		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170009381	A	G	170009381	3	3	77	1	0	0	0	0	1	0	0	0	8956	72	3	4	1630	4	LRP2	2	170009381	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	66951543	170009381	73189992	11	5149											
LRP2	4036	broad.mit.edu	37	chr2	170101420	170101420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccatggccacaggtgaaCgccgaagatgaacaggtatt	12	7	11	11	2	0	3	0	2	0	1	1	4	1	3	4	3	2	1	4	3	4	2	rs530329919	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170101420C>T	ENST00000263816.3	-	22	3498	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	LRP2_ENST00000443831.1_Silent_p.A934A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1071	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACAGGTGAACGCCGAAGATG	0.473													C|||	2	0.000399361	0	0	5008	,	,		21331	0		0	False		,,,				2504	0.002					uc002ues.3																			0		p.S1070L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3211-3213)gcG>gcA		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						162	138	146					2																	170101420		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101420C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3213G>A	2.37:g.170101420C>T						LRP2_uc010zdf.1_Silent_p.A934A	p.A1071A	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	21	3426	-			1071			LDL-receptor class A 9.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3213G>A	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170101420	C	T	170101420	2	4	77	1	0	0	0	0	0	0	0	1	8956	523	19	1		1	LRP2	2	170101420	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	92039	170101420	73097953	12	5150											
UBR3	130507	broad.mit.edu	37	chr2	170929938	170929940	+	Splice_Site	DEL	GAA	GAA	-																															tcctatttcatgtctaaaagGaagaagaagaattttcagtt																										TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170929938_170929940delGAA	ENST00000272793.5	+	36	5070_5072	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_ENST00000418381.1_Splice_Site_p.E1677del|UBR3_ENST00000392631.1_Splice_Site_p.E498del			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1677					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379																																						uc010zdi.2																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5020-5022)gaadel		Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.																																				SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170929938_170929940delGAA	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5020-1GAA>-	2.37:g.170929947_170929949delGAA						UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	p.E1677del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			35	5020_5022	+			1677					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	In_Frame_Del	DEL	ENST00000272793.5	37	c.5020_5022delGAA																																																																																					0.379	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	In_Frame_Del	-	170929940	GAA	-	170929938	8	5	77	1	0	1	0	1	0	0	1	0	16900	1188	41	0	5162	0	UBR3	2	170929938	Splice_Site	DEL	GAA	TCGA-06-2559-01A-01D-1494-08	828518	170929938	72269435	13	5151											
AOX1	316	broad.mit.edu	37	chr2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccttttgggctcggCgccaggtgggaaagtggagt	6	10	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	1	2	5	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473																																						uc002uvx.3																			1	Substitution - Missense(1)	p.A507V(2)|p.A507A(1)	lung(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1519-1521)gCg>gTg		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94	91	92					2																	201478598		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478598C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1520C>T	2.37:g.201478598C>T	ENSP00000363832:p.Ala507Val					AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	p.A507V	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1621	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1520C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675041	0.67928	.	.	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.33	5.33	0.75918	CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.45744	1.44	0.80722	D	1	P	0.37708	0.606	B	0.43155	0.41	T	0.03212	-1.1060	10	0.49607	T	0.09	-45.5491	19.2079	0.93742	0.0:1.0:0.0:0.0	.	507	Q06278	ADO_HUMAN	V	507	ENSP00000363832:A507V	ENSP00000363832:A507V	A	+	2	0	AOX1	201186843	0.999000	0.42202	0.681000	0.30009	0.039000	0.13416	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	GCG		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201478598	C	T	201478598	3	4	77	1	0	0	0	0	1	0	0	0	729	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	30548660	201478598	41720775	14	5152											
TMPPE	643853	broad.mit.edu	37	chr3	33134390	33134390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacccagcctcatgggtatcCcgtagtaggctgtgcctggg	6	10	13	12	1	1	0	1	0	0	0	2	0	2	0	4	3	3	4	4	3	4	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:33134390C>A	ENST00000342462.4	-	2	1488	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G296V|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	433						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CATGGGTATCCCGTAGTAGGC	0.592																																						uc003cfk.2																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(1297-1299)gGg>gTg		Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.							63	59	60					3																	33134390		2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33134390C>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1298G>T	3.37:g.33134390C>A	ENSP00000343398:p.Gly433Val					GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V|TMPPE_uc021wux.1_Missense_Mutation_p.G433V	p.G433V	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN			1	1510	-			433					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.1298G>T	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104641	0.77096	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	D	0.83413	0.5249	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84892	0.0837	9	0.87932	D	0	-18.7126	17.6706	0.88216	0.0:1.0:0.0:0.0	.	433	Q6ZT21	TMPPE_HUMAN	V	296;433	.	ENSP00000343398:G433V	G	-	2	0	TMPPE	33109394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.941000	0.99782	0.655000	0.94253	GGG		0.592	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		A	33134390	C	A	33134390	3	1	77	1	0	0	0	0	1	0	0	0	16235	623	22	5	67	5	TMPPE	3	33134390	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		33134390	164888040	15	5153											
TMF1	7110	broad.mit.edu	37	chr3	69075241	69075241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctagaaacagaaaatggcTtgcgttccttagggagtaaa	14	10	11	6	1	0	2	0	0	0	2	1	3	1	3	1	2	3	4	1	2	7	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:69075241T>C	ENST00000398559.2	-	14	2981	c.2765A>G	c.(2764-2766)aAg>aGg	p.K922R	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.K925R|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	922					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGAAAATGGCTTGCGTTCCTT	0.393																																						uc011bfx.2																			0		p.S925Y(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2773-2775)aAg>aGg		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							99	95	96					3																	69075241		1890	4121	6011	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69075241T>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2765A>G	3.37:g.69075241T>C	ENSP00000381567:p.Lys922Arg					TMF1_uc003dnn.3_Missense_Mutation_p.K922R	p.K925R	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	13	3021	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	922					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2774A>G	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	9.111	1.006572	0.19199	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.48836	0.8;0.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.36672	1.1	0.50171	D	0.999857	B;B	0.14805	0.011;0.004	B;B	0.14023	0.01;0.003	T	0.13388	-1.0511	10	0.11794	T	0.64	-18.2333	10.9114	0.47110	0.1405:0.0:0.0:0.8595	.	925;922	P82094-2;P82094	.;TMF1_HUMAN	R	922;925;838	ENSP00000381567:K922R;ENSP00000438706:K925R	ENSP00000348582:K838R	K	-	2	0	TMF1	69157931	1.000000	0.71417	0.615000	0.29064	0.991000	0.79684	4.283000	0.58977	2.019000	0.59389	0.477000	0.44152	AAG		0.393	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		C	69075241	T	C	69075241	3	2	77	1	0	0	0	0	1	0	0	0	16225	1609	56	4	532	4	TMF1	3	69075241	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	35940851	69075241	128947189	16	5154											
CPN2	1370	broad.mit.edu	37	chr3	194062679	194062679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggcaggtgcgtgatggcGttgcgttgcagccacagcct	6	8	16	11	4	0	1	0	1	0	0	0	1	0	1	2	3	6	4	2	3	0	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:194062679G>A	ENST00000323830.3	-	2	842	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_ENST00000429275.1_Silent_p.N251N	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	251					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602																																						uc003fts.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(751-753)aaC>aaT		Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.							43	45	44					3																	194062679		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062679G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.753C>T	3.37:g.194062679G>A						CPN2_uc021xix.1_Silent_p.N251N	p.N251N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	1	843	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		251					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.753C>T	CCDS33920.1																																																																																				0.602	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194062679	G	A	194062679	2	1	77	1	0	0	0	0	0	0	0	1	3810	1136	40	1		1	CPN2	3	194062679	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	124987438	194062679	3959751	17	5155											
RGS12	6002	broad.mit.edu	37	chr4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacagcaccttgctgcCgccgccctccaccccccagg	6	4	7	24	2	0	0	0	0	0	0	1	0	1	0	10	1	4	2	10	1	1	1	rs200575024		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:3432638C>T	ENST00000344733.5	+	17	4974	c.4070C>T	c.(4069-4071)cCg>cTg	p.P1357L	RGS12_ENST00000382788.3_Missense_Mutation_p.P1357L|RGS12_ENST00000338806.4_Missense_Mutation_p.P709L|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.P1357L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1357					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.P1357L(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667																																						uc003ggw.3																			1	Substitution - Missense(1)	p.P1357L(2)	prostate(1)	autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4069-4071)cCg>cTg		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							24	30	28					4																	3432638		2200	4297	6497	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432638C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4070C>T	4.37:g.3432638C>T	ENSP00000339381:p.Pro1357Leu					RGS12_uc003ggv.3_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699L|RGS12_uc010icv.3_Missense_Mutation_p.P556L	p.P1357L	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4974	+			1357					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4070C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854001	0.51270	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.41065	1.47;1.48;1.48;1.01	4.69	4.69	0.59074	.	0.145355	0.45867	D	0.000332	T	0.61073	0.2318	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.983;0.983;0.963;0.983	T	0.65286	-0.6205	10	0.72032	D	0.01	-28.5636	16.6297	0.85030	0.0:1.0:0.0:0.0	.	699;709;1357;1357	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	L	1357;1357;1357;709	ENSP00000339381:P1357L;ENSP00000338509:P1357L;ENSP00000372238:P1357L;ENSP00000342133:P709L	ENSP00000338509:P1357L	P	+	2	0	RGS12	3402436	0.996000	0.38824	0.864000	0.33941	0.020000	0.10135	3.249000	0.51437	2.170000	0.68504	0.655000	0.94253	CCG		0.667	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		T	3432638	C	T	3432638	3	4	77	1	0	0	0	0	1	0	0	0	13295	652	23	2	4190	2	RGS12	4	3432638	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		3432638	187721638	18	5156											
GABRB1	2560	broad.mit.edu	37	chr4	47405592	47405592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagcgtatccacgactGtcactaagttttcgtctaaa	11	12	8	10	3	3	0	2	0	1	0	5	2	4	1	1	1	1	2	1	1	4	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:47405592G>T	ENST00000295454.3	+	7	991	c.699G>T	c.(697-699)ctG>ctT	p.L233L	GABRB1_ENST00000538619.1_Silent_p.L163L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	233					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCCACGACTGTCACTAAGTT	0.398																																						uc003gxh.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(697-699)ctG>ctT		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						178	156	163					4																	47405592		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405592G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.699G>T	4.37:g.47405592G>T						GABRB1_uc011bze.2_Silent_p.L163L	p.L233L	NM_000812	NP_000803	P18505	GBRB1_HUMAN			6	1073	+			233					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.699G>T	CCDS3474.1																																																																																				0.398	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			T	47405592	G	T	47405592	2	4	77	1	0	0	0	0	0	0	0	1	6166	1364	48	5		5	GABRB1	4	47405592	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	43972954	47405592	143748684	19	5157											
PDGFRA	5156	broad.mit.edu	37	chr4	55133901	55133901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgatgtggaaaagattcagGaaataaggtaaagaaactct	18	9	10	4	0	2	3	1	1	1	2	2	5	2	5	0	3	1	1	0	3	7	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55133901G>A	ENST00000257290.5	+	7	1445	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	372	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AAAGATTCAGGAAATAAGGTA	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1114-1116)Gaa>Aaa		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						36	35	35					4																	55133901		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133901G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1114G>A	4.37:g.55133901G>A	ENSP00000257290:p.Glu372Lys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_Non-coding_Transcript	p.E372K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1445	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		372			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1114G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351694	0.95830	.	.	ENSG00000134853	ENST00000257290	T	0.54279	0.58	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.32901	U	0.005519	T	0.72590	0.3479	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.66106	-0.6006	10	0.21014	T	0.42	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	372;372	P16234-3;P16234	.;PGFRA_HUMAN	K	372	ENSP00000257290:E372K	ENSP00000257290:E372K	E	+	1	0	PDGFRA	54828658	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.928000	0.87587	2.745000	0.94114	0.462000	0.41574	GAA		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55133901	G	A	55133901	3	1	77	1	0	0	0	0	1	0	0	0	11661	1175	41	3	1136	3	PDGFRA	4	55133901	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	7728309	55133901	136020375	20	5158											
PDGFRA	5156	broad.mit.edu	37	chr4	55144136	55144136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcacctggggccacatttGaacattgtaaacttgctggg	10	11	10	10	0	1	1	1	1	0	0	1	1	1	1	2	3	3	2	2	3	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55144136G>C	ENST00000257290.5	+	14	2296	c.1965G>C	c.(1963-1965)ttG>ttC	p.L655F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L415F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGCCACATTTGAACATTGTAA	0.458			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1963-1965)ttG>ttC		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						82	82	82					4																	55144136		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55144136G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1965G>C	4.37:g.55144136G>C	ENSP00000257290:p.Leu655Phe	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F	p.L655F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		13	2296	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		655			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1965G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807746	0.70797	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.89196	-2.48;-2.48	5.83	-3.28	0.05033	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.26836	U	0.022255	D	0.89462	0.6722	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.86183	0.1607	10	0.72032	D	0.01	.	8.5019	0.33163	0.2338:0.2428:0.5234:0.0	.	655;655	P16234-3;P16234	.;PGFRA_HUMAN	F	415;655	ENSP00000423325:L415F;ENSP00000257290:L655F	ENSP00000423325:L415F	L	+	3	2	FIP1L1;PDGFRA	54838893	1.000000	0.71417	0.827000	0.32855	0.946000	0.59487	0.798000	0.27014	-0.325000	0.08577	-0.258000	0.10820	TTG		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		C	55144136	G	C	55144136	3	2	77	1	0	0	0	0	1	0	0	0	11661	1281	45	5	2015	5	PDGFRA	4	55144136	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	10235	55144136	136010140	21	5159											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-																															agctgctgctcctgggagctCtgctgctgctgctgctgcgt																										TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						uc003haz.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)cagdel		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	p.Q760del	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		22	3204_3206	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		-	56304532	CTG	-	56304530	7	5	77	1	0	1	0	1	0	0	0	0	3549	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-06-2559-01A-01D-1494-08	1160394	56304530	134849746	22	5160											
GRID2	2895	broad.mit.edu	37	chr4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttatctcatcttacacgGcaaacctcgctgctttcctc	7	15	5	14	2	2	0	1	0	2	0	6	0	3	0	2	1	3	4	2	1	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:94411879G>A	ENST00000282020.4	+	12	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_ENST00000510992.1_Missense_Mutation_p.A555T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	650					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCTTACACGGCAAACCTCGC	0.438																																						uc011cdt.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1948-1950)Gca>Aca		Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	L-Glutamic Acid(DB00142)						162	162	162					4																	94411879		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94411879G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1948G>A	4.37:g.94411879G>A	ENSP00000282020:p.Ala650Thr					GRID2_uc011cdu.2_Missense_Mutation_p.A555T	p.A650T	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2206	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	650					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1948G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549547	0.86127	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.74315	-0.83;-0.83	5.37	5.37	0.77165	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.90731	0.7091	H	0.95043	3.615	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	D	0.93309	0.6683	10	0.87932	D	0	.	19.1096	0.93312	0.0:0.0:1.0:0.0	.	555;650	E9PH24;O43424	.;GRID2_HUMAN	T	650;555	ENSP00000282020:A650T;ENSP00000421257:A555T	ENSP00000282020:A650T	A	+	1	0	GRID2	94630902	1.000000	0.71417	0.995000	0.50966	0.403000	0.30841	9.434000	0.97515	2.509000	0.84616	0.591000	0.81541	GCA		0.438	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94411879	G	A	94411879	3	1	77	1	0	0	0	0	1	0	0	0	6772	1203	42	3	1994	3	GRID2	4	94411879	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	38107349	94411879	96742397	23	5161											
NEUROG2	63973	broad.mit.edu	37	chr4	113436257	113436257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccgcgttgaggttgtgCatgcggtttcgctcgcggtt	3	13	16	9	6	0	1	0	1	0	0	2	1	0	1	1	3	3	6	1	3	0	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:113436257C>T	ENST00000313341.3	-	2	701	c.375G>A	c.(373-375)atG>atA	p.M125I	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGAGGTTGTGCATGCGGTTTC	0.672																																						uc003ias.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(373-375)atG>atA		Homo sapiens neurogenin 2 (NEUROG2), mRNA.							65	59	61					4																	113436257		2202	4300	6502	SO:0001583	missense	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436257C>T	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.375G>A	4.37:g.113436257C>T	ENSP00000317333:p.Met125Ile					NEUROG2_uc021xqu.1_Missense_Mutation_p.M125I	p.M125I	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	1	702	-		Ovarian(17;0.156)	125			Helix-loop-helix motif.		Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	c.375G>A	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309289	0.81247	.	.	ENSG00000178403	ENST00000313341	D	0.97994	-4.65	3.76	3.76	0.43208	Helix-loop-helix DNA-binding (5);	0.000000	0.53938	U	0.000051	D	0.98535	0.9511	M	0.84511	2.7	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.99204	1.0874	10	0.87932	D	0	-13.4746	13.1517	0.59492	0.0:1.0:0.0:0.0	.	125	Q9H2A3	NGN2_HUMAN	I	125	ENSP00000317333:M125I	ENSP00000317333:M125I	M	-	3	0	NEUROG2	113655706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.931000	0.55961	0.563000	0.77884	ATG		0.672	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		T	113436257	C	T	113436257	3	4	77	1	0	0	0	0	1	0	0	0	10353	710	25	3	447	3	NEUROG2	4	113436257	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	19024378	113436257	77718019	24	5162											
PRDM9	56979	broad.mit.edu	37	chr5	23526957	23526957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagggagtgtgggcGgggctttagctggcagtcag	5	10	19	7	1	2	0	1	0	1	0	2	1	2	1	0	5	2	4	0	5	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:23526957G>A	ENST00000296682.3	+	11	1942	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGC	0.607										HNSCC(3;0.000094)																												uc003jgo.3																			0		p.R587R(1)|p.G586G(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1759-1761)cGg>cAg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							43	50	48					5																	23526957		2168	4271	6439	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526957G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1760G>A	5.37:g.23526957G>A	ENSP00000296682:p.Arg587Gln	HNSCC(3;0.000094)					p.R587Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1942	+			587					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1760G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756557	0.31137	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.18960	2.18	2.31	0.4	0.16331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.35542	1.07	0.24273	N	0.995235	P	0.39094	0.659	B	0.36885	0.235	T	0.16335	-1.0406	9	0.52906	T	0.07	-0.8007	5.1423	0.14965	0.4462:0.0:0.5538:0.0	.	587	Q9NQV7	PRDM9_HUMAN	Q	587;353	ENSP00000296682:R587Q	ENSP00000253473:R353Q	R	+	2	0	PRDM9	23562714	0.000000	0.05858	0.984000	0.44739	0.605000	0.37080	0.445000	0.21677	0.068000	0.16574	0.400000	0.26472	CGG		0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23526957	G	A	23526957	3	1	77	1	0	0	0	0	1	0	0	0	12463	1116	39	2	1798	2	PRDM9	5	23526957	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		23526957	157388303	25	5163											
C5orf39	389289	broad.mit.edu	37	chr5	43040058	43040058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacggcccacgatcttCtgaactcacaataggtggag	11	7	11	12	2	3	1	1	1	2	0	3	3	3	2	2	4	1	0	2	4	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:43040058C>A	ENST00000314890.3	-	2	1510	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	31																	CCACGATCTTCTGAACTCACA	0.567											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jnf.3																			0											c.(91-93)Gaa>Taa		Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.							41	47	45					5																	43040058		2203	4300	6503	SO:0001587	stop_gained	389289						receptor activity	g.chr5:43040058C>A	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"chromosome 5 open reading frame 39"	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.91G>T	5.37:g.43040058C>A	ENSP00000315915:p.Glu31*		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	p.E31*	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN			0	390	-			31					Q8NHX5	Nonsense_Mutation	SNP	ENST00000314890.3	37	c.91G>T	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	C	45	11.802152	0.99604	.	.	ENSG00000177721	ENST00000314890	.	.	.	3.37	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	4.8338	0.13454	0.0:0.6567:0.2199:0.1234	.	.	.	.	X	31	.	ENSP00000315915:E31X	E	-	1	0	C5orf39	43075815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.631000	0.24568	0.408000	0.25621	0.655000	0.94253	GAA		0.567	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		A	43040058	C	A	43040058	4	1	77	1	0	0	0	0	0	1	0	0	2297	922	32	5	494	5	C5orf39	5	43040058	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	19513101	43040058	137875202	26	5164											
MAP3K1	4214	broad.mit.edu	37	chr5	56168506	56168506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagagaacctttaataTgtcccctttgtagatctaag	14	13	7	7	0	1	2	0	0	1	2	2	4	2	2	3	0	1	1	3	0	7	7			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:56168506T>C	ENST00000399503.3	+	8	1462	c.1462T>C	c.(1462-1464)Tgt>Cgt	p.C488R		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	488					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTTAATATGTCCCCTTTG	0.279																																						uc003jqw.4																			0		p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1462-1464)Tgt>Cgt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							82	78	79					5																	56168506		1787	4061	5848	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168506T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1462T>C	5.37:g.56168506T>C	ENSP00000382423:p.Cys488Arg						p.C488R	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1963	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	488						Missense_Mutation	SNP	ENST00000399503.3	37	c.1462T>C	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187077	0.78789	.	.	ENSG00000095015	ENST00000399503	D	0.99809	-6.86	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.97766	1.0223	10	0.87932	D	0	.	16.4461	0.83932	0.0:0.0:0.0:1.0	.	488	Q13233	M3K1_HUMAN	R	488	ENSP00000382423:C488R	ENSP00000382423:C488R	C	+	1	0	MAP3K1	56204263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.908000	0.75730	2.285000	0.76669	0.528000	0.53228	TGT		0.279	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		C	56168506	T	C	56168506	3	2	77	1	0	0	0	0	1	0	0	0	9243	1464	51	4	1492	4	MAP3K1	5	56168506	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	13128448	56168506	124746754	27	5165											
GPR98	84059	broad.mit.edu	37	chr5	89989726	89989726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagggcactttggtcggCtgttgttgttctacagtact	5	14	14	8	2	1	0	0	0	1	0	2	1	1	1	0	4	2	6	0	4	2	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:89989726C>T	ENST00000405460.2	+	33	7249	c.7153C>T	c.(7153-7155)Ctg>Ttg	p.L2385L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2385					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTGGTCGGCTGTTGTTGTT	0.428																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7153-7155)Ctg>Ttg		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							50	48	49					5																	89989726		1901	4116	6017	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989726C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7153C>T	5.37:g.89989726C>T						GPR98_uc003kjt.3_Silent_p.L91L|GPR98_uc003kjv.3_5'UTR	p.L2385L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	32	7249	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2385					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.7153C>T	CCDS47246.1																																																																																				0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89989726	C	T	89989726	2	4	77	1	0	0	0	0	0	0	0	1	6721	796	28	3		3	GPR98	5	89989726	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	33821220	89989726	90925534	28	5166											
FBN2	2201	broad.mit.edu	37	chr5	127728841	127728841	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacttagtccagtgatGataggtccctgtcccccggc	7	11	9	14	1	0	2	0	2	0	0	3	2	3	2	4	2	1	0	4	2	3	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:127728841G>T	ENST00000508053.1	-	16	2426	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	FBN2_ENST00000508989.1_Silent_p.I451I|FBN2_ENST00000262464.4_Silent_p.I484I			P35556	FBN2_HUMAN	fibrillin 2	484					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCAGTGATGATAGGTCCCT	0.498																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1450-1452)atC>atA		Homo sapiens fibrillin 2 (FBN2), mRNA.							78	91	87					5																	127728841		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728841G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1452C>A	5.37:g.127728841G>T						FBN2_uc003kuv.2_Silent_p.I451I	p.I484I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1891	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	484					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.1452C>A	CCDS34222.1																																																																																				0.498	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127728841	G	T	127728841	2	4	77	1	0	0	0	0	0	0	0	1	5703	1280	45	5		5	FBN2	5	127728841	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	37739115	127728841	53186419	29	5167											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768969	140768969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctacgtgtccataagCgcggagagcggggtggtgtt	7	10	15	9	4	1	1	1	0	0	1	3	2	3	1	2	4	3	1	2	4	2	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:140768969C>T	ENST00000519479.1	+	1	1518	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCATAAGCGCGGAGAGCG	0.662																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1516-1518)agC>agT		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							54	60	58					5																	140768969		2017	4179	6196	SO:0001819	synonymous_variant	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768969C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1518C>T	5.37:g.140768969C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.S506S	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1518	+			510			Cadherin 5.		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1518C>T	CCDS54928.1																																																																																				0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140768969	C	T	140768969	2	4	77	1	0	0	0	0	0	0	0	1	11565	767	27	1		1	PCDHGB4	5	140768969	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	13040128	140768969	40146291	30	5168											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827265	34827265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaccaaggaagctgtGtccctgactaaggatgcctt	10	9	10	12	0	1	1	1	1	0	0	2	4	2	3	4	2	2	1	4	2	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:34827265G>A	ENST00000192788.5	+	14	3303	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	UHRF1BP1_ENST00000452449.2_Silent_p.V1044V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1044							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517																																						uc003oju.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3130-3132)gtG>gtA		Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.							113	117	116					6																	34827265		2114	4223	6337	SO:0001819	synonymous_variant	54887							g.chr6:34827265G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3132G>A	6.37:g.34827265G>A						UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	p.V1044V	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			13	3366	+			1044					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3132G>A	CCDS43455.1																																																																																				0.517	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		A	34827265	G	A	34827265	2	1	77	1	0	0	0	0	0	0	0	1	16965	1364	48	3		3	UHRF1BP1	6	34827265	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		34827265	136287802	31	5169											
ZNF735	0	broad.mit.edu	37	chr7	63680474	63680474	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacataagataattcatactGgagagaaaccctacacatgt	17	9	6	9	0	1	2	1	0	0	2	1	4	1	3	1	1	3	0	1	1	5	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:63680474G>A								GUSBP6 (69375 upstream) : ZNF679 (8377 downstream)																							AATTCATACTGGAGAGAAACC	0.403																																						uc011kdn.2																			0											c.(1045-1047)Gga>Aga		Homo sapiens zinc finger protein 735 (ZNF735), mRNA.							51	58	56					7																	63680474		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680474G>A																													7.37:g.63680474G>A							p.G349R	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			3	1045	+			349						Missense_Mutation	SNP		37	c.1045G>A																																																																																				0	0.403									A	63680474	G	A	63680474	1	1	77	0	1	0	0	0	0	0	0	0	18121	1349	47	3		3	ZNF735	7	63680474	IGR	SNP	G	TCGA-06-2559-01A-01D-1494-08		63680474	95458189	32	5170											
TAF6	6878	broad.mit.edu	37	chr7	99706049	99706049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagagcagcctgggcccGagccttgaccacctgggagc	7	5	14	15	1	0	2	0	1	0	1	0	4	0	3	5	2	5	2	5	2	0	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:99706049G>A	ENST00000344095.4	-	13	1924	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	TAF6_ENST00000437822.2_Missense_Mutation_p.R504W|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R467W|TAF6_ENST00000418432.2_Missense_Mutation_p.R391W|TAF6_ENST00000472509.1_Missense_Mutation_p.R524W|TAF6_ENST00000452041.1_Missense_Mutation_p.R467W	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	467					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTGGGCCCGAGCCTTGACC	0.642																																						uc003uth.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1570-1572)Cgg>Tgg		Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.							51	58	56					7																	99706049		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99706049G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1399C>T	7.37:g.99706049G>A	ENSP00000344537:p.Arg467Trp					AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Missense_Mutation_p.R389W|TAF6_uc003utm.3_Missense_Mutation_p.R467W|TAF6_uc003uti.3_Missense_Mutation_p.R467W|TAF6_uc003utk.3_Missense_Mutation_p.R467W|TAF6_uc011kji.2_Missense_Mutation_p.R504W	p.R524W	NM_139315	NP_647476	P49848	TAF6_HUMAN			11	1707	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		467					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1570C>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970953	0.74246	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.73363	-0.6;-0.74;-0.6;-0.6;-0.72	5.58	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	M	0.78049	2.395	0.53005	D	0.999962	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.69654	0.948;0.965;0.924;0.924;0.924	T	0.82394	-0.0479	10	0.87932	D	0	-27.9857	5.8627	0.18757	0.0892:0.0:0.5513:0.3595	.	504;467;457;467;391	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	W	467;524;467;467;391;504	ENSP00000389575:R467W;ENSP00000419760:R524W;ENSP00000416396:R467W;ENSP00000344537:R467W;ENSP00000399982:R504W	ENSP00000344537:R467W	R	-	1	2	TAF6	99543985	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.041000	0.49807	1.296000	0.44742	0.491000	0.48974	CGG		0.642	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		A	99706049	G	A	99706049	3	1	77	1	0	0	0	0	1	0	0	0	15527	1057	37	2	646	2	TAF6	7	99706049	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	36025575	99706049	59432614	33	5171											
GRM8	2918	broad.mit.edu	37	chr7	126173406	126173406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttcttcccctgctcaAatattcggtggatacggttt	8	15	8	10	2	2	1	1	0	1	1	4	2	3	2	2	3	2	2	2	3	3	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:126173406A>G	ENST00000339582.2	-	9	2838	c.2030T>C	c.(2029-2031)tTt>tCt	p.F677S	GRM8_ENST00000444921.2_Missense_Mutation_p.F677S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.F677S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	677					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCCTGCTCAAATATTCGGTG	0.502										HNSCC(24;0.065)																												uc003vlr.2																			0		p.I676M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2029-2031)tTt>tCt		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						91	84	86					7																	126173406		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173406A>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2030T>C	7.37:g.126173406A>G	ENSP00000344173:p.Phe677Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_Non-coding_Transcript	p.F677S	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	2341	-		Prostate(267;0.186)	677					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2030T>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153719	0.78114	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91011	-2.77;-2.77;-2.77	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.97677	1.0170	10	0.87932	D	0	.	15.3625	0.74492	1.0:0.0:0.0:0.0	.	677;677	O00222-2;O00222	.;GRM8_HUMAN	S	677	ENSP00000344173:F677S;ENSP00000409790:F677S;ENSP00000351142:F677S	ENSP00000344173:F677S	F	-	2	0	GRM8	125960642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	TTT		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			G	126173406	A	G	126173406	3	3	77	1	0	0	0	0	1	0	0	0	6803	14	1	4	758	4	GRM8	7	126173406	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	26467357	126173406	32965257	34	5172											
UBN2	254048	broad.mit.edu	37	chr7	138969015	138969015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatgaacatcagcagaCagtctcccaccttgaattta	13	10	8	10	0	2	3	1	2	1	1	3	4	2	4	2	1	2	1	2	1	4	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:138969015C>A	ENST00000473989.3	+	15	3364	c.3364C>A	c.(3364-3366)Cag>Aag	p.Q1122K	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1039K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1122	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATCAGCAGACAGTCTCCCAC	0.498																																						uc011kqr.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3364-3366)Cag>Aag		Homo sapiens ubinuclein 2 (UBN2), mRNA.							78	81	80					7																	138969015		2011	4182	6193	SO:0001583	missense	254048							g.chr7:138969015C>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3364C>A	7.37:g.138969015C>A	ENSP00000418648:p.Gln1122Lys						p.Q1122K	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			14	3364	+			1122			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3364C>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563004	0.65538	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35421	1.31;1.45	5.51	5.51	0.81932	.	0.354165	0.28409	N	0.015455	T	0.40222	0.1108	L	0.36672	1.1	0.35521	D	0.801451	P	0.45715	0.865	P	0.57620	0.824	T	0.17961	-1.0352	10	0.05959	T	0.93	0.3355	13.0614	0.59010	0.0:0.9263:0.0:0.0737	.	1122	Q6ZU65	UBN2_HUMAN	K	1122;1039	ENSP00000418648:Q1122K;ENSP00000288561:Q1039K	ENSP00000288561:Q1039K	Q	+	1	0	UBN2	138619555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.751000	0.55165	2.752000	0.94435	0.557000	0.71058	CAG		0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		A	138969015	C	A	138969015	3	1	77	1	0	0	0	0	1	0	0	0	16890	479	17	5	3422	5	UBN2	7	138969015	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	12795609	138969015	20169648	35	5173											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871717	1871717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaaatcagagctgcGgactgctgcagaattcagtt	13	9	12	7	1	2	4	2	1	0	3	2	6	2	5	0	1	4	4	0	1	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:1871717G>A	ENST00000398564.1	+	20	2418	c.2418G>A	c.(2416-2418)gcG>gcA	p.A806A	ARHGEF10_ENST00000349830.3_Silent_p.A781A|ARHGEF10_ENST00000262112.6_Silent_p.A806A|ARHGEF10_ENST00000520359.1_Silent_p.A743A|ARHGEF10_ENST00000518288.1_Silent_p.A805A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	806					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGAGCTGCGGACTGCTGCA	0.418																																						uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2341-2343)gcG>gcA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							71	80	77					8																	1871717		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871717G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2418G>A	8.37:g.1871717G>A						ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.3_Silent_p.A743A|ARHGEF10_uc003wpv.3_Silent_p.A514A|ARHGEF10_uc010lre.3_Silent_p.A461A	p.A781A	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2521	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	806					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2343G>A																																																																																					0.418	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				A	1871717	G	A	1871717	2	1	77	1	0	0	0	0	0	0	0	1	894	1103	39	2		2	ARHGEF10	8	1871717	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		1871717	144492305	36	5174											
CTHRC1	115908	broad.mit.edu	37	chr8	104390318	104390318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgttcagtggctcacttCggctaaaatgcagaaatgca	11	13	9	8	1	2	1	2	0	0	1	3	1	2	1	0	2	2	5	0	2	3	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:104390318C>T	ENST00000330295.5	+	3	578	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	CTHRC1_ENST00000520880.1_Missense_Mutation_p.R16W|CTHRC1_ENST00000520337.1_Missense_Mutation_p.R132W	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	146					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGCTCACTTCGGCTAAAATG	0.373																																						uc003ylk.3																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(436-438)Cgg>Tgg		Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.							187	181	183					8																	104390318		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104390318C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.436C>T	8.37:g.104390318C>T	ENSP00000330523:p.Arg146Trp						p.R146W	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	535	+			146					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.436C>T	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012940	0.75161	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.69040	-0.37;0.61	5.51	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.80982	2.52	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.85431	0.1149	10	0.87932	D	0	-19.0796	15.8231	0.78676	0.1367:0.8633:0.0:0.0	.	146	Q96CG8	CTHR1_HUMAN	W	146;132;132;16	ENSP00000330523:R146W;ENSP00000430550:R132W	ENSP00000297577:R132W	R	+	1	2	CTHRC1	104459494	0.896000	0.30565	0.996000	0.52242	0.998000	0.95712	1.793000	0.38764	1.289000	0.44618	0.655000	0.94253	CGG		0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		T	104390318	C	T	104390318	3	4	77	1	0	0	0	0	1	0	0	0	4010	875	31	2	446	2	CTHRC1	8	104390318	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	102518601	104390318	41973704	37	5175											
TG	7038	broad.mit.edu	37	chr8	134042090	134042090	+	Frame_Shift_Del	DEL	G	G	-																															cggagaggtgagtggcaactGggggctgctggaccaggtgg																										TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:134042090delG	ENST00000220616.4	+	41	7101	c.7061delG	c.(7060-7062)tggfs	p.W2354fs	TG_ENST00000377869.1_Frame_Shift_Del_p.W2297fs|TG_ENST00000542445.1_Frame_Shift_Del_p.W724fs|TG_ENST00000519543.1_Frame_Shift_Del_p.W487fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2354					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGGCAACTGGGGGCTGCTG	0.577																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7060-7062)tggfs		Homo sapiens thyroglobulin (TG), mRNA.							45	49	48					8																	134042090		2203	4300	6503	SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042090delG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7061delG	8.37:g.134042090delG	ENSP00000220616:p.Trp2354fs					TG_uc010mdw.3_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.2_Frame_Shift_Del_p.W723fs|TG_uc011ljc.2_Frame_Shift_Del_p.W487fs	p.W2354fs	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	40	7102	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2354					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.7061delG	CCDS34944.1																																																																																				0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		-	134042090	G	-	134042090	7	5	77	1	0	1	0	1	0	0	0	0	15810	1357	47	0	7223	0	TG	8	134042090	Frame_Shift_Del	DEL	G	TCGA-06-2559-01A-01D-1494-08	29651772	134042090	12321932	38	5176											
DOCK8	81704	broad.mit.edu	37	chr9	439266	439266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atatttcttccaatgtgctgGaggagtctgtggtctctgag	7	15	12	7	0	3	1	0	1	3	0	5	3	4	3	1	3	1	1	1	3	2	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:439266G>C	ENST00000453981.1	+	40	5213	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.E1601Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1633Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1168Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1701	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATGTGCTGGAGGAGTCTGT	0.552																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5101-5103)Gag>Cag		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							104	99	101					9																	439266		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439266G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5101G>C	9.37:g.439266G>C	ENSP00000408464:p.Glu1701Gln					DOCK8_uc022bcu.1_Missense_Mutation_p.E1633Q|DOCK8_uc010mgv.3_Missense_Mutation_p.E1601Q|DOCK8_uc010mgu.3_Missense_Mutation_p.E1003Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q	p.E1701Q	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5213	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1701			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5101G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828382	0.90955	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.69175	2.35;-0.38;-0.38;-0.38	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.994;0.99	D	0.88663	0.3190	10	0.66056	D	0.02	.	18.6173	0.91306	0.0:0.0:1.0:0.0	.	1601;1168;1701	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Q	1701;1669;1633;1601;1168	ENSP00000408464:E1701Q;ENSP00000394888:E1633Q;ENSP00000419438:E1601Q;ENSP00000371766:E1168Q	ENSP00000287364:E1669Q	E	+	1	0	DOCK8	429266	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.150000	0.94667	2.624000	0.88883	0.655000	0.94253	GAG		0.552	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		C	439266	G	C	439266	3	2	77	1	0	0	0	0	1	0	0	0	4693	1175	41	5	5259	5	DOCK8	9	439266	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		439266	140774165	39	5177											
KIAA1797	54914	broad.mit.edu	37	chr9	20821058	20821058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcatcaatcagagataTatgtaagcagaggtatgatg	16	9	11	5	0	2	3	2	1	0	2	2	4	2	3	0	1	3	5	0	1	5	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:20821058T>C	ENST00000380249.1	+	16	2145	c.1781T>C	c.(1780-1782)aTa>aCa	p.I594T	FOCAD_ENST00000338382.6_Missense_Mutation_p.I594T|FOCAD_ENST00000605086.1_Missense_Mutation_p.I30T	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	594						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ATCAGAGATATATGTAAGCAG	0.368																																						uc003zog.1																			0											c.(1780-1782)aTa>aCa		Homo sapiens KIAA1797 (KIAA1797), mRNA.							154	146	148					9																	20821058		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20821058T>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1781T>C	9.37:g.20821058T>C	ENSP00000369599:p.Ile594Thr					FOCAD_uc003zoh.1_Missense_Mutation_p.I30T	p.I594T	NM_017794	NP_060264	Q5VW36	K1797_HUMAN			15	2144	+			594					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1781T>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649493	0.67358	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.27402	1.67;1.67	5.46	5.46	0.80206	Domain of unknown function DUF3730 (1);	0.094503	0.64402	D	0.000001	T	0.54287	0.1849	M	0.73962	2.25	0.58432	D	0.999997	D	0.69078	0.997	D	0.64042	0.921	T	0.59413	-0.7459	10	0.72032	D	0.01	-28.1389	15.5911	0.76530	0.0:0.0:0.0:1.0	.	594	Q5VW36	K1797_HUMAN	T	594	ENSP00000369599:I594T;ENSP00000344307:I594T	ENSP00000344307:I594T	I	+	2	0	KIAA1797	20811058	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.429000	0.73387	2.089000	0.63090	0.374000	0.22700	ATA		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		C	20821058	T	C	20821058	3	2	77	1	0	0	0	0	1	0	0	0	8258	1406	49	4	1831	4	KIAA1797	9	20821058	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	20381792	20821058	120392373	40	5178											
TAF1L	138474	broad.mit.edu	37	chr9	32630579	32630579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgttggtatcatacatatCaggaggctgagatgtgtagg	10	13	14	4	0	2	1	2	1	0	1	2	3	2	2	0	4	1	4	0	4	4	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:32630579C>T	ENST00000242310.4	-	1	5088	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1667					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATACATATCAGGAGGCTGA	0.463																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4999-5001)Gat>Aat		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							205	195	199					9																	32630579		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630579C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4999G>A	9.37:g.32630579C>T	ENSP00000418379:p.Asp1667Asn					AX747113_uc003zrh.1_5'Flank	p.D1667N	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	5089	-			1667					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4999G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495151	0.44352	.	.	ENSG00000122728	ENST00000242310	T	0.08546	3.08	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.47716	1.5	0.36305	D	0.857294	P	0.34800	0.469	B	0.29524	0.103	T	0.35943	-0.9768	10	0.37606	T	0.19	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1667	Q8IZX4	TAF1L_HUMAN	N	1667	ENSP00000418379:D1667N	ENSP00000418379:D1667N	D	-	1	0	TAF1L	32620579	0.759000	0.28416	0.383000	0.26132	0.063000	0.16089	1.338000	0.33873	0.507000	0.28148	0.195000	0.17529	GAT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32630579	C	T	32630579	3	4	77	1	0	0	0	0	1	0	0	0	15520	826	29	3	485	3	TAF1L	9	32630579	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	11809521	32630579	108582852	41	5179											
ZNF658	26149	broad.mit.edu	37	chr9	40772401	40772401	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctcccctgtgtgaatTctttgatgtactctgagggt	6	17	10	8	0	3	3	0	3	3	0	4	4	3	3	2	1	1	1	2	1	2	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:40772401T>A	ENST00000602553.1	-	5	3168	c.2874A>T	c.(2872-2874)agA>agT	p.R958S	ZNF658_ENST00000377626.3_Missense_Mutation_p.R958S|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	958					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTGTGAATTCTTTGATGTA	0.438																																						uc004abs.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2872-2874)agA>agT		Homo sapiens zinc finger protein 658 (ZNF658), mRNA.							22	24	23					9																	40772401		1496	3161	4657	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772401T>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2874A>T	9.37:g.40772401T>A	ENSP00000473484:p.Arg958Ser					ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S	p.R958S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	3026	-			958					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2874A>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	12.69	2.012267	0.35511	.	.	ENSG00000196409	ENST00000377626	T	0.02395	4.31	2.16	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.07712	-1.0758	9	0.66056	D	0.02	.	5.3348	0.15951	0.0:0.1597:0.0:0.8403	.	958	Q5TYW1	ZN658_HUMAN	S	958	ENSP00000366853:R958S	ENSP00000366853:R958S	R	-	3	2	ZNF658	40762401	0.000000	0.05858	0.054000	0.19295	0.479000	0.33129	-0.396000	0.07278	0.311000	0.23014	0.423000	0.28283	AGA		0.438	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		A	40772401	T	A	40772401	3	1	77	1	0	0	0	0	1	0	0	0	18066	1780	62	5	309	5	ZNF658	9	40772401	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	8141822	40772401	100441030	42	5180											
TNFSF8	944	broad.mit.edu	37	chr9	117666360	117666360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagagagattctggtataCgtgtttcgtttgcattccag	8	16	11	6	2	1	2	0	1	1	2	3	4	2	2	1	1	2	4	1	1	2	7	rs145748228		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:117666360C>T	ENST00000223795.2	-	4	669	c.556G>A	c.(556-558)Gta>Ata	p.V186I	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	186					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCTGGTATACGTGTTTCGTT	0.418																																						uc004bji.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(556-558)Gta>Ata		Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.		C	ILE/VAL	0,4406		0,0,2203	274	237	249		556	4.7	0.5	9	dbSNP_134	249	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFSF8	NM_001244.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	186/235	117666360	1,13005	2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666360C>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.556G>A	9.37:g.117666360C>T	ENSP00000223795:p.Val186Ile					TNFSF8_uc022bmi.1_Intron	p.V186I	NM_001244	NP_001235	P32971	TNFL8_HUMAN			3	848	-			186					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.556G>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.827073	0.00584	0.0	1.16E-4	ENSG00000106952	ENST00000223795	D	0.94417	-3.42	5.78	4.66	0.58398	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.163209	0.42548	N	0.000687	T	0.81721	0.4882	N	0.02916	-0.46	0.21841	N	0.99951	B	0.10296	0.003	B	0.04013	0.001	T	0.66893	-0.5808	10	0.02654	T	1	-16.0201	8.9474	0.35767	0.0:0.0874:0.0:0.9126	.	186	P32971	TNFL8_HUMAN	I	186	ENSP00000223795:V186I	ENSP00000223795:V186I	V	-	1	0	TNFSF8	116706181	0.991000	0.36638	0.473000	0.27253	0.008000	0.06430	2.612000	0.46343	1.024000	0.39682	-0.302000	0.09304	GTA		0.418	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			T	117666360	C	T	117666360	3	4	77	1	0	0	0	0	1	0	0	0	16308	536	19	1	152	1	TNFSF8	9	117666360	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	76893959	117666360	23547071	43	5181											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506710	37506710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattaggaagaatcgaagaGcagcataggaaagagttaga	19	6	13	3	1	0	4	0	0	0	4	1	8	0	6	0	2	2	3	0	2	8	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:37506710G>A	ENST00000602533.1	+	33	3102	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ANKRD30A_ENST00000361713.1_Silent_p.E1001E|ANKRD30A_ENST00000374660.1_Silent_p.E1120E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1057					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATCGAAGAGCAGCATAGGA	0.328																																						uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3001-3003)gaG>gaA		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							68	68	68					10																	37506710		1814	4063	5877	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506710G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3003G>A	10.37:g.37506710G>A						ANKRD30A_uc001iza.1_Silent_p.E1001E	p.E1001E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			32	3102	+			1057					Q5W025	Silent	SNP	ENST00000602533.1	37	c.3003G>A																																																																																					0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		A	37506710	G	A	37506710	2	1	77	1	0	0	0	0	0	0	0	1	658	962	34	3		3	ANKRD30A	10	37506710	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		37506710	98028037	44	5182											
ADAMTS14	140766	broad.mit.edu	37	chr10	72495039	72495039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttgactttggcagtggCtaccagacctgcttggcagt	6	12	12	11	1	0	2	0	1	0	1	0	2	0	2	2	3	2	5	2	3	1	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:72495039C>T	ENST00000373207.1	+	9	1467	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	ADAMTS14_ENST00000373208.1_Silent_p.G492G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	489	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGGCAGTGGCTACCAGACCT	0.592																																						uc001jrg.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1474-1476)ggC>ggT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.							59	58	58					10																	72495039		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72495039C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1467C>T	10.37:g.72495039C>T						ADAMTS14_uc001jrh.3_Silent_p.G489G|ADAMTS14_uc001jri.1_Silent_p.G12G	p.G492G	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN			8	1476	+			489			Disintegrin.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.1476C>T	CCDS7306.1																																																																																				0.592	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72495039	C	T	72495039	2	4	77	1	0	0	0	0	0	0	0	1	259	784	28	3		3	ADAMTS14	10	72495039	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	34988329	72495039	63039708	45	5183											
PTEN	5728	broad.mit.edu	37	chr10	89692993	89692993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttctatggggaagtaagGaccagagacaaaaaggtaag	17	7	13	4	0	1	1	0	0	1	1	1	5	1	3	1	4	0	2	1	4	6	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89692993G>T	ENST00000371953.3	+	5	1834	c.477G>T	c.(475-477)agG>agT	p.R159S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	159	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGAAGTAAGGACCAGAGACA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		57	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(7)|Unknown(5)	p.0?(37)|p.R159S(14)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(8)|skin(6)|lung(5)|breast(3)|ovary(3)|large_intestine(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(475-477)agG>agT		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							53	55	54					10																	89692993		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692993G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.477G>T	10.37:g.89692993G>T	ENSP00000361021:p.Arg159Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R159S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1509	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	159			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.477G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874058	0.91664	.	.	ENSG00000171862	ENST00000371953	D	0.99762	-6.67	5.09	5.09	0.68999	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96285	0.9209	9	.	.	.	-3.7525	18.493	0.90854	0.0:0.0:1.0:0.0	.	159	P60484	PTEN_HUMAN	S	159	ENSP00000361021:R159S	.	R	+	3	2	PTEN	89682973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.341000	0.79615	0.563000	0.77884	AGG		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692993	G	T	89692993	3	4	77	1	0	0	0	0	1	0	0	0	12738	1165	41	5	495	5	PTEN	10	89692993	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	17197954	89692993	45841754	46	5184											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							60	63	62					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R335*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2035	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720852	C	T	89720852	4	4	77	1	0	0	0	0	0	1	0	0	12738	644	23	2	1033	2	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	27859	89720852	45813895	47	5185											
COL17A1	1308	broad.mit.edu	37	chr10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccagggggccctggcGggcctgacacgtacatggta	6	5	18	12	2	0	1	0	1	0	0	0	1	0	1	3	7	1	2	3	7	2	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:105798253G>A	ENST00000353479.5	-	45	3271	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	994	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P994L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597																																						uc001kxr.3																			2	Substitution - Missense(2)	p.P994L(4)|p.P994P(1)	prostate(1)|endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2980-2982)cCg>cTg		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							62	71	68					10																	105798253		2200	4294	6494	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798253G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2981C>T	10.37:g.105798253G>A	ENSP00000340937:p.Pro994Leu						p.P994L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	44	3150	-		Colorectal(252;0.103)|Breast(234;0.122)	994			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2981C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541454	0.65085	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91945	-1.76;-2.94	4.81	4.81	0.61882	.	0.000000	0.43579	D	0.000547	D	0.93743	0.8000	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91884	0.5518	10	0.23302	T	0.38	-9.4754	14.8213	0.70074	0.0:0.0:1.0:0.0	.	994	Q9UMD9	COHA1_HUMAN	L	994;949	ENSP00000340937:P994L;ENSP00000358748:P949L	ENSP00000340937:P994L	P	-	2	0	COL17A1	105788243	1.000000	0.71417	0.477000	0.27303	0.014000	0.08584	4.113000	0.57851	2.222000	0.72286	0.462000	0.41574	CCG		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105798253	G	A	105798253	3	1	77	1	0	0	0	0	1	0	0	0	3674	1116	39	2	1560	2	COL17A1	10	105798253	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	16077401	105798253	29736494	48	5186											
NANOS1	340719	broad.mit.edu	37	chr10	120790044	120790044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgctgtgtcccgtgcTgcgccgctacacgtgtcccc	3	9	13	16	5	0	0	0	0	0	0	2	1	2	0	4	0	4	3	4	0	1	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:120790044T>A	ENST00000425699.1	+	1	817	c.731T>A	c.(730-732)cTg>cAg	p.L244Q		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	244					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGTCCCGTGCTGCGCCGCTAC	0.687																																						uc009xzf.1																			0				lung(1)	1						c.(730-732)cTg>cAg		Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.							24	21	22					10																	120790044		2133	4221	6354	SO:0001583	missense	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120790044T>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.731T>A	10.37:g.120790044T>A	ENSP00000393275:p.Leu244Gln						p.L244Q	NM_199461	NP_955631	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	0	817	+		Lung NSC(174;0.094)|all_lung(145;0.123)	244						Missense_Mutation	SNP	ENST00000425699.1	37	c.731T>A	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785233	0.90282	.	.	ENSG00000188613	ENST00000425699;ENST00000340087	T;T	0.72282	-0.64;-0.64	5.21	5.21	0.72293	Zinc finger, nanos-type (2);	0.000000	0.56097	D	0.000024	D	0.86602	0.5972	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89546	0.3796	10	0.87932	D	0	-16.9426	14.7376	0.69427	0.0:0.0:0.0:1.0	.	244	Q8WY41	NANO1_HUMAN	Q	244;36	ENSP00000393275:L244Q;ENSP00000345924:L36Q	ENSP00000345924:L36Q	L	+	2	0	NANOS1	120780034	1.000000	0.71417	0.973000	0.42090	0.942000	0.58702	7.637000	0.83313	1.957000	0.56846	0.482000	0.46254	CTG		0.687	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			A	120790044	T	A	120790044	3	1	77	1	0	0	0	0	1	0	0	0	10151	1580	55	5	733	5	NANOS1	10	120790044	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	14991791	120790044	14744703	49	5187											
OR10S1	219873	broad.mit.edu	37	chr11	123847486	123847486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcttcacctccttgttccGcaaagtgtaaatgaatgggt	10	13	9	9	1	1	1	1	1	0	0	3	1	3	1	3	1	1	4	3	1	4	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:123847486G>A	ENST00000531945.1	-	1	1002	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTTGTTCCGCAAAGTGTAA	0.527																																						uc001pzm.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(913-915)Cgg>Tgg		Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.							85	85	85					11																	123847486		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847486G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.913C>T	11.37:g.123847486G>A	ENSP00000431914:p.Arg305Trp						p.R305W	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	913	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	305					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.913C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858979	0.51376	.	.	ENSG00000196248	ENST00000531945	T	0.41065	1.01	4.82	1.44	0.22558	.	0.000000	0.32802	U	0.005621	T	0.61110	0.2321	M	0.76328	2.33	0.30084	N	0.808883	D	0.89917	1.0	D	0.85130	0.997	T	0.63238	-0.6682	10	0.87932	D	0	-11.5299	12.3357	0.55065	0.0:0.0:0.2969:0.703	.	305	Q8NGN2	O10S1_HUMAN	W	305	ENSP00000431914:R305W	ENSP00000431914:R305W	R	-	1	2	OR10S1	123352696	0.000000	0.05858	0.796000	0.32109	0.693000	0.40251	-0.132000	0.10467	0.538000	0.28769	0.563000	0.77884	CGG		0.527	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		A	123847486	G	A	123847486	3	1	77	1	0	0	0	0	1	0	0	0	10918	1086	38	1	86	1	OR10S1	11	123847486	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		123847486	11159030	50	5188											
AGAP2	116986	broad.mit.edu	37	chr12	58125706	58125706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacattcggtgaggaCgggagggaagaagagtagtc	13	6	16	6	2	0	4	0	2	0	2	2	7	0	7	1	4	1	1	1	4	4	2	rs145122115	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:58125706C>T	ENST00000547588.1	-	8	1838	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	AGAP2_ENST00000257897.3_Silent_p.P277P	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	613					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCGGTGAGGACGGGAGGGAAG	0.622													C|||	7	0.00139776	0.0015	0.0014	5008	,	,		17516	0		0.001	False		,,,				2504	0.0031					uc001spq.3																			0		p.E612Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1837-1839)ccG>ccA		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	55	51	52		1839,831	-8.8	0.9	12	dbSNP_134	52	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	AGAP2	NM_001122772.2,NM_014770.3	,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,	613/1193,277/837	58125706	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125706C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1839G>A	12.37:g.58125706C>T						AGAP2_uc001spp.3_Silent_p.P613P|AGAP2_uc001spr.3_Silent_p.P277P	p.P613P	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			7	1839	-			613					A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1839G>A	CCDS44932.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.714	0.912723	0.17907	2.27E-4	4.65E-4	ENSG00000135439	ENST00000328568	.	.	.	4.63	-8.76	0.00830	.	.	.	.	.	T	0.49881	0.1583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58696	-0.7591	4	.	.	.	.	10.4235	0.44365	0.1272:0.5646:0.0:0.3082	.	.	.	.	I	477	.	.	V	-	1	0	AGAP2	56411973	0.002000	0.14202	0.865000	0.33974	0.886000	0.51366	-2.005000	0.01460	-1.387000	0.02095	-1.267000	0.01435	GTC		0.622	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		T	58125706	C	T	58125706	2	4	77	1	0	0	0	0	0	0	0	1	368	523	19	1		1	AGAP2	12	58125706	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08		58125706	75726189	51	5189											
GPR133	283383	broad.mit.edu	37	chr12	131487809	131487809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacctgcacggcagcaCgccccaggtcaccgtggagg	8	4	12	17	3	1	0	1	0	0	0	2	1	2	1	5	4	3	3	5	4	1	0	rs142314859		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:131487809C>T	ENST00000261654.5	+	10	1665	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	GPR133_ENST00000535015.1_Missense_Mutation_p.T401M|GPR133_ENST00000376682.4_Missense_Mutation_p.T55M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	369					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACGGCAGCACGCCCCAGGTC	0.622																																						uc010tbm.2																			0		p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1201-1203)aCg>aTg		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.		T	MET/THR	1,4405	2.1+/-5.4	0,1,2202	111	90	97		1106	-4.9	0	12	dbSNP_134	97	0,8600		0,0,4300	yes	missense	GPR133	NM_198827.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	369/875	131487809	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487809C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1106C>T	12.37:g.131487809C>T	ENSP00000261654:p.Thr369Met					GPR133_uc001uit.4_Missense_Mutation_p.T369M	p.T401M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1761	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		369					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1202C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	13.18	2.161504	0.38119	2.27E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.42131	0.99;0.99;0.98	4.88	-4.89	0.03103	.	1.300820	0.04720	N	0.419124	T	0.22975	0.0555	L	0.29908	0.895	0.09310	N	1	D;P	0.55172	0.97;0.914	B;B	0.38428	0.27;0.273	T	0.32929	-0.9888	10	0.51188	T	0.08	.	2.3971	0.04393	0.2654:0.4062:0.0805:0.2479	.	401;369	B7ZLF7;Q6QNK2	.;GP133_HUMAN	M	369;401;60;65;55	ENSP00000261654:T369M;ENSP00000444425:T401M;ENSP00000365872:T55M	ENSP00000261654:T369M	T	+	2	0	GPR133	130053762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.137000	0.15995	-0.614000	0.05687	-3.951000	0.00015	ACG		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131487809	C	T	131487809	3	4	77	1	0	0	0	0	1	0	0	0	6643	536	19	1	1144	1	GPR133	12	131487809	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	73362103	131487809	2364086	52	5190											
N6AMT2	221143	broad.mit.edu	37	chr13	21331636	21331636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttatatttatcatcctcGcctggctcaatttgttgctt	7	19	6	9	1	2	0	2	0	0	0	4	0	3	0	2	1	1	4	2	1	4	7	rs558722857		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr13:21331636G>A	ENST00000382758.1	-	2	149	c.102C>T	c.(100-102)ggC>ggT	p.G34G	N6AMT2_ENST00000382754.4_Silent_p.G34G|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	34						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATCATCCTCGCCTGGCTCAA	0.418																																						uc001uno.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(100-102)ggC>ggT		Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.							185	171	176					13																	21331636		2203	4300	6503	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331636G>A	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.102C>T	13.37:g.21331636G>A						N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_Non-coding_Transcript	p.G34G	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	1	183	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	34					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.102C>T	CCDS9293.1																																																																																				0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		A	21331636	G	A	21331636	2	1	77	1	0	0	0	0	0	0	0	1	10115	1074	38	1		1	N6AMT2	13	21331636	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		21331636	93838242	53	5191											
CHD8	57680	broad.mit.edu	37	chr14	21876530	21876530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgctggccagactgcCatggtacacaatagtgttca	9	10	10	12	0	1	1	1	0	0	1	1	1	1	1	3	2	4	3	3	2	3	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:21876530C>G	ENST00000557364.1	-	13	2934	c.2671G>C	c.(2671-2673)Ggc>Cgc	p.G891R	CHD8_ENST00000399982.2_Missense_Mutation_p.G891R|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.G612R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	891	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCAGACTGCCATGGTACACA	0.438																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2671-2673)Ggc>Cgc		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							114	108	110					14																	21876530		1967	4181	6148	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876530C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2671G>C	14.37:g.21876530C>G	ENSP00000451601:p.Gly891Arg					CHD8_uc001was.2_Missense_Mutation_p.G612R|CHD8_uc001wav.1_Missense_Mutation_p.G54R	p.G891R	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	11	2736	-	all_cancers(95;0.00121)		891			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2671G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.948536|4.948536	0.92593|0.92593	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.95949|.	-3.86;-3.86;-3.86|.	5.29|5.29	5.29|5.29	0.74685|0.74685	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86125|0.86125	0.5858|0.5858	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|D	0.88974|0.88974	0.3403|0.3403	10|5	0.87932|.	D|.	0|.	-18.3065|-18.3065	17.8563|17.8563	0.88764|0.88764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	891;612|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	R|S	612;891;611;891|116	ENSP00000406288:G612R;ENSP00000382863:G891R;ENSP00000451601:G891R|.	ENSP00000262707:G611R|.	G|W	-|-	1|2	0|0	CHD8|CHD8	20946370|20946370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.744000|2.744000	0.94065|0.94065	0.585000|0.585000	0.79938|0.79938	GGC|TGG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		G	21876530	C	G	21876530	3	3	77	1	0	0	0	0	1	0	0	0	3331	594	21	5	5178	5	CHD8	14	21876530	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		21876530	85473010	54	5192											
DHRS2	10202	broad.mit.edu	37	chr14	24109023	24109023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggagcactgtgggggCgtcgacttcctggtgtgcag	4	9	17	11	2	0	0	0	0	0	0	2	2	1	1	2	4	2	2	2	4	0	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24109023C>T	ENST00000250383.6	+	4	815	c.339C>T	c.(337-339)ggC>ggT	p.G113G	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.G113G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	113					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACTGTGGGGGCGTCGACTTCC	0.637																																						uc001wkt.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(337-339)ggC>ggT		Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.							57	56	57					14																	24109023		2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24109023C>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.339C>T	14.37:g.24109023C>T						DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.4_Silent_p.G113G|DHRS2_uc010akv.3_Non-coding_Transcript	p.G113G	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	786	+			91					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.339C>T	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	3.891	-0.023970	0.07634	.	.	ENSG00000100867	ENST00000557535	.	.	.	4.55	-9.11	0.00711	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.20307	N	0.999916	.	.	.	.	.	.	T	0.21143	-1.0254	4	.	.	.	.	8.4174	0.32678	0.2446:0.0848:0.0:0.6706	.	.	.	.	C	29	.	.	R	+	1	0	DHRS2	23178863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.799000	0.00363	-3.801000	0.00105	-2.073000	0.00383	CGT		0.637	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		T	24109023	C	T	24109023	2	4	77	1	0	0	0	0	0	0	0	1	4490	755	27	1		1	DHRS2	14	24109023	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	2232493	24109023	83240517	55	5193											
LRRC16B	90668	broad.mit.edu	37	chr14	24524519	24524519	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagccacttggagagccGgtaagcagatggggcagaga	11	7	15	8	1	1	3	1	0	0	3	1	5	1	3	2	4	3	3	2	4	1	3	rs182632230		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24524519G>A	ENST00000342740.5	+	8	759	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	202						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGGAGAGCCGGTAAGCAGAT	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		19339	0		0	False		,,,				2504	0					uc001wlj.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.e8+1		Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.							100	103	102					14																	24524519		2203	4300	6503	SO:0001630	splice_region_variant	90668							g.chr14:24524519G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.605+1G>A	14.37:g.24524519G>A							p.R202_splice	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	8	762	+			202					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.605_splice	CCDS32054.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.69	3.452756	0.63290	.	.	ENSG00000186648	ENST00000342740	T	0.52754	0.65	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000002	T	0.55273	0.1910	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	P	0.56648	0.803	T	0.54009	-0.8357	10	0.39692	T	0.17	-19.2758	12.4153	0.55490	0.0:0.0:1.0:0.0	.	202	Q8ND23	LR16B_HUMAN	Q	202	ENSP00000340467:R202Q	ENSP00000340467:R202Q	R	+	2	0	LRRC16B	23594359	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.988000	0.93501	2.294000	0.77228	0.313000	0.20887	CGA		0.552	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	Missense_Mutation	A	24524519	G	A	24524519	5	1	77	1	0	0	0	0	0	0	1	0	8972	1130	39	2	635	2	LRRC16B	14	24524519	Splice_Site	SNP	G	TCGA-06-2559-01A-01D-1494-08	415496	24524519	82825021	56	5194											
C15orf2	23742	broad.mit.edu	37	chr15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttccgcggcctgttccGccggaacgcccgtcgcaggc	3	7	12	19	7	0	0	0	0	0	0	3	1	2	1	6	3	1	2	6	3	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr15:24921169G>A	ENST00000329468.2	+	1	629	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	52					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGCCTGTTCCGCCGGAACGCC	0.756																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(154-156)cGc>cAc		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							13	17	16					15																	24921169		2166	4215	6381	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921169G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.155G>A	15.37:g.24921169G>A	ENSP00000333735:p.Arg52His						p.R52H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	629	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	52						Missense_Mutation	SNP	ENST00000329468.2	37	c.155G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439867	0.43326	.	.	ENSG00000185823	ENST00000329468	T	0.07908	3.15	1.98	-0.558	0.11796	.	2.445120	0.02107	N	0.054426	T	0.06280	0.0162	N	0.22421	0.69	0.09310	N	1	B	0.23854	0.092	B	0.06405	0.002	T	0.34601	-0.9822	10	0.46703	T	0.11	.	4.3569	0.11183	0.5308:0.0:0.4692:0.0	.	52	Q9NZP6	CO002_HUMAN	H	52	ENSP00000333735:R52H	ENSP00000333735:R52H	R	+	2	0	C15orf2	22472262	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.047000	0.14056	-0.113000	0.11958	0.484000	0.47621	CGC		0.756	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921169	G	A	24921169	3	1	77	1	0	0	0	0	1	0	0	0	1784	1087	38	1	157	1	C15orf2	15	24921169	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		24921169	77610223	57	5195											
SOLH	6650	broad.mit.edu	37	chr16	603459	603459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacagcctccaaggggacCcacagccccccactcacgcc	9	3	9	20	1	1	0	1	0	0	0	2	2	2	2	7	3	2	0	7	3	1	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:603459C>T	ENST00000219611.2	+	14	3567	c.3204C>T	c.(3202-3204)acC>acT	p.T1068T	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1068					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T1068T(1)									CCAAGGGGACCCACAGCCCCC	0.687																																						uc002chi.3																			1	Substitution - coding silent(1)	p.T1068T(2)	breast(1)	breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(3202-3204)acC>acT		Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.							48	51	50					16																	603459		2199	4299	6498	SO:0001819	synonymous_variant	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:603459C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3204C>T	16.37:g.603459C>T						SOLH_uc002chj.3_Silent_p.T128T	p.T1068T	NM_005632	NP_005623	O75808	CAN15_HUMAN			13	3567	+		Hepatocellular(780;0.00335)	1068					B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.3204C>T	CCDS10410.1																																																																																				0.687	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		T	603459	C	T	603459	2	4	77	1	0	0	0	0	0	0	0	1	14925	610	22	3		3	SOLH	16	603459	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08		603459	89751294	58	5196											
WDR90	197335	broad.mit.edu	37	chr16	715745	715745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgaggatgggagtgtgCgggtgtgggccttggccagc	5	8	21	7	1	0	1	0	1	0	0	0	3	0	3	2	5	2	1	2	5	0	1	rs199662983		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:715745C>T	ENST00000293879.4	+	35	4378	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Missense_Mutation_p.R59W|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547944.1_Missense_Mutation_p.R59W|WDR90_ENST00000549091.1_Missense_Mutation_p.R1462W			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1460										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGGAGTGTGCGGGTGTGGGC	0.672													C|||	1	0.000199681	0	0	5008	,	,		13289	0		0.001	False		,,,				2504	0					uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(4378-4380)Cgg>Tgg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.		C	TRP/ARG	0,4218		0,0,2109	43	54	50		4378	-4.7	0.7	16		50	2,8466		0,2,4232	yes	missense	WDR90	NM_145294.4	101	0,2,6341	TT,TC,CC		0.0236,0.0,0.0158	probably-damaging	1460/1749	715745	2,12684	2109	4234	6343	SO:0001583	missense	197335							g.chr16:715745C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4378C>T	16.37:g.715745C>T	ENSP00000293879:p.Arg1460Trp					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	p.R1460W	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			34	4432	+		Hepatocellular(780;0.0218)	1460					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4378C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926421	0.73327	0.0	2.36E-4	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	4.78	-4.67	0.03319	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.453907	0.19934	N	0.102784	T	0.82213	0.4988	M	0.89414	3.03	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.999;1.0	D	0.83388	0.0016	10	0.87932	D	0	.	17.8099	0.88612	0.5684:0.4316:0.0:0.0	.	59;59;59;1460	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	W	1462;1460;59;59	ENSP00000448122:R1462W;ENSP00000293879:R1460W;ENSP00000449576:R59W;ENSP00000322808:R59W	ENSP00000293879:R1460W	R	+	1	2	WDR90	655746	0.773000	0.28580	0.692000	0.30179	0.915000	0.54546	-0.016000	0.12613	-1.551000	0.01706	0.561000	0.74099	CGG		0.672	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	715745	C	T	715745	3	4	77	1	0	0	0	0	1	0	0	0	17334	759	27	1	4516	1	WDR90	16	715745	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	112286	715745	89639008	59	5197											
OTOA	146183	broad.mit.edu	37	chr16	21698817	21698817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaccgcagcctgtttctCatcacactggagaggtgttt	8	12	11	10	1	2	2	2	1	1	1	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:21698817C>T	ENST00000286149.4	+	7	484	c.483C>T	c.(481-483)ctC>ctT	p.L161L	OTOA_ENST00000388956.4_Silent_p.L82L|OTOA_ENST00000388958.3_Silent_p.L161L			Q7RTW8	OTOAN_HUMAN	otoancorin	161					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCTGTTTCTCATCACACTGG	0.542																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(481-483)ctC>ctT		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							120	109	113					16																	21698817		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698817C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.483C>T	16.37:g.21698817C>T						LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L82L	p.L161L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	6	484	+			161					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.483C>T																																																																																					0.542	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			T	21698817	C	T	21698817	2	4	77	1	0	0	0	0	0	0	0	1	11302	813	29	3		3	OTOA	16	21698817	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	20983072	21698817	68655936	60	5198											
SCNN1G	6340	broad.mit.edu	37	chr16	23226433	23226433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcttctgtccaacttCggtggccagctgggcctgtg	5	11	14	11	1	1	1	0	0	1	1	3	2	2	1	3	3	3	2	3	3	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:23226433C>A	ENST00000300061.2	+	13	1736	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	531					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTCCAACTTCGGTGGCCAGC	0.547																																						uc002dlm.1																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1591-1593)ttC>ttA		Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						88	70	76					16																	23226433		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226433C>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1593C>A	16.37:g.23226433C>A	ENSP00000300061:p.Phe531Leu						p.F531L	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	12	1732	+			531					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1593C>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	2.505	-0.314385	0.05422	.	.	ENSG00000166828	ENST00000300061	T	0.62232	0.04	5.22	-3.89	0.04193	.	0.070769	0.64402	D	0.000015	T	0.36248	0.0960	N	0.17674	0.51	0.46823	D	0.999215	B	0.17038	0.02	B	0.17098	0.017	T	0.43410	-0.9393	10	0.02654	T	1	-42.7857	12.7905	0.57530	0.0:0.2933:0.0:0.7067	.	531	P51170	SCNNG_HUMAN	L	531	ENSP00000300061:F531L	ENSP00000300061:F531L	F	+	3	2	SCNN1G	23133934	0.035000	0.19736	0.906000	0.35671	0.694000	0.40290	-1.326000	0.02685	-0.895000	0.03920	-1.036000	0.02392	TTC		0.547	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		A	23226433	C	A	23226433	3	1	77	1	0	0	0	0	1	0	0	0	13930	883	31	5	1639	5	SCNN1G	16	23226433	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	1527616	23226433	67128320	61	5199											
ITGAD	3681	broad.mit.edu	37	chr16	31409190	31409190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctcctgctgggctcGcgctgggagatcatccagac	5	9	12	15	2	1	2	1	0	0	2	5	3	4	2	4	2	2	3	4	2	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:31409190G>A	ENST00000389202.2	+	5	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	129					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642																																						uc010cap.1																			0		p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(385-387)tcG>tcA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							39	34	36					16																	31409190		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409190G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.387G>A	16.37:g.31409190G>A						ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	p.S129S	NM_005353	NP_005344	Q13349	ITAD_HUMAN			4	436	+			129					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.387G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084023	0.08583	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.86	-3.43	0.04810	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	5	0.48119	T	0.1	.	1.0023	0.01479	0.1408:0.2268:0.2866:0.3459	.	.	.	.	H	37	.	ENSP00000323325:R37H	R	+	2	0	ITGAD	31316691	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.048000	0.11944	-0.346000	0.08312	-1.303000	0.01326	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31409190	G	A	31409190	2	1	77	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	8182757	31409190	58945563	62	5200											
NLRC5	84166	broad.mit.edu	37	chr16	57054711	57054711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacccagaatggctgaaCgccaagatgaagttcttcct	14	8	9	10	1	1	5	0	2	1	3	2	5	2	5	3	1	1	2	3	1	5	2	rs200713636	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57054711C>T	ENST00000262510.6	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000436936.1_Silent_p.N29N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													C|||	4	0.000798722	0	0	5008	,	,		14507	0		0.001	False		,,,				2504	0.0031					uc021tiu.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(85-87)aaC>aaT		Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.							98	87	91					16																	57054711		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57054711C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.87C>T	16.37:g.57054711C>T						NLRC5_uc021tit.1_Silent_p.N29N|NLRC5_uc010ccq.1_Non-coding_Transcript	p.N29N	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			1	214	+		all_neural(199;0.225)	29					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.87C>T	CCDS10773.1																																																																																				0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		T	57054711	C	T	57054711	2	4	77	1	0	0	0	0	0	0	0	1	10470	535	19	1		1	NLRC5	16	57054711	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	25645521	57054711	33300042	63	5201											
NLRC5	84166	broad.mit.edu	37	chr16	57088674	57088674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcaggctgagccagaCgggactgtccccgaaaagcc	9	7	11	14	2	1	2	1	1	0	1	2	4	2	3	5	2	2	1	5	2	2	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57088674C>T	ENST00000262510.6	+	25	3743	c.3518C>T	c.(3517-3519)aCg>aTg	p.T1173M	NLRC5_ENST00000539144.1_Missense_Mutation_p.T1173M|NLRC5_ENST00000308149.7_Missense_Mutation_p.T1173M|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.T1173M	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGAGCCAGACGGGACTGTCC	0.592																																						uc021tiu.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3517-3519)aCg>aTg		Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.							194	204	200					16																	57088674		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088674C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3518C>T	16.37:g.57088674C>T	ENSP00000262510:p.Thr1173Met					NLRC5_uc021tiv.1_Missense_Mutation_p.T978M|NLRC5_uc021tiw.1_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	p.T1173M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			23	3645	+		all_neural(199;0.225)	1173					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3518C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337332	0.41398	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.54279	0.58;5.46;0.58;5.46;0.58;0.58	4.88	2.76	0.32466	.	.	.	.	.	T	0.39279	0.1072	L	0.40543	1.245	0.09310	N	1	P;P;P;P;P	0.48589	0.858;0.912;0.854;0.723;0.773	B;B;B;B;B	0.38803	0.11;0.282;0.282;0.157;0.075	T	0.21999	-1.0229	9	0.51188	T	0.08	.	7.5141	0.27590	0.0:0.7853:0.0:0.2147	.	858;1173;1173;1173;1173	Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;.;NLRC5_HUMAN	M	1173;1173;1173;617;1173;650;442	ENSP00000262510:T1173M;ENSP00000308886:T1173M;ENSP00000389739:T1173M;ENSP00000441727:T1173M;ENSP00000441597:T650M;ENSP00000440153:T442M	ENSP00000262510:T1173M	T	+	2	0	NLRC5	55646175	0.007000	0.16637	0.011000	0.14972	0.028000	0.11728	0.125000	0.15749	1.167000	0.42706	0.557000	0.71058	ACG		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		T	57088674	C	T	57088674	3	4	77	1	0	0	0	0	1	0	0	0	10470	536	19	1	3608	1	NLRC5	16	57088674	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	33963	57088674	33266079	64	5202											
KCTD19	146212	broad.mit.edu	37	chr16	67325657	67325657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatcgctgcccaccaCgggggggtgagtcactttga	8	7	14	12	2	1	2	1	2	0	0	2	3	1	2	3	3	2	1	3	3	1	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:67325657C>T	ENST00000304372.5	-	13	2357	c.2302G>A	c.(2302-2304)Gtg>Atg	p.V768M		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGA	0.572																																						uc002esu.2																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2302-2304)Gtg>Atg		Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.							54	59	57					16																	67325657		1981	4160	6141	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302G>A	16.37:g.67325657C>T	ENSP00000305702:p.Val768Met					KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	p.V768M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2353	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2302G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847872	0.51164	.	.	ENSG00000168676	ENST00000304372	T	0.63255	-0.03	5.5	4.54	0.55810	.	0.000000	0.48286	D	0.000181	T	0.45357	0.1338	N	0.24115	0.695	0.32174	N	0.581277	P	0.52577	0.954	B	0.40659	0.336	T	0.57429	-0.7813	10	0.40728	T	0.16	-16.8196	10.7082	0.45966	0.0:0.9114:0.0:0.0886	.	768	Q17RG1	KCD19_HUMAN	M	768	ENSP00000305702:V768M	ENSP00000305702:V768M	V	-	1	0	KCTD19	65883158	0.795000	0.28851	0.957000	0.39632	0.388000	0.30384	1.418000	0.34782	2.595000	0.87683	0.462000	0.41574	GTG		0.572	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		T	67325657	C	T	67325657	3	4	77	1	0	0	0	0	1	0	0	0	8106	536	19	1	494	1	KCTD19	16	67325657	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	10236983	67325657	23029096	65	5203											
PKD1L2	114780	broad.mit.edu	37	chr16	81187697	81187697	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgtcgggatcagccagGtggtggggctctctctctcc	4	10	16	11	1	3	0	1	0	2	0	7	2	4	2	2	6	1	1	2	6	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:81187697G>C	ENST00000525539.1	-	0	4274				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCAGCCAGGTGGTGGGGCT	0.607																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(4273-4275)caC>caG		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							62	67	65					16																	81187697		2044	4186	6230			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81187697G>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81187697G>C						PKD1L2_uc002fgg.1_Non-coding_Transcript	p.H1425Q	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			25	4275	-			1425			PLAT.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.4275C>G																																																																																					0.607	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			C	81187697	G	C	81187697	1	2	77	0	1	0	0	0	0	0	0	0	11965	1252	44	5		5	PKD1L2	16	81187697	RNA	SNP	G	TCGA-06-2559-01A-01D-1494-08	13862040	81187697	9167056	66	5204											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	13	6	14	8	1	0	4	0	1	0	3	1	6	0	6	2	4	2	2	2	4	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578280G>A	ENST00000269305.4	-	6	758	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000420246.2_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGCTGAGGAGGGGCCAGACC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(568-570)cCt>cTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							89	80	83					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578280G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.569C>T	17.37:g.7578280G>A	ENSP00000269305:p.Pro190Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L	p.P190L	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	763	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	190		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.569C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468425	0.43839	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68593	2.085	0.80722	D	1	D;P;D;P;P;P;D	0.89917	0.987;0.484;0.972;0.765;0.676;0.921;1.0	D;B;P;P;P;P;D	0.91635	0.916;0.306;0.708;0.605;0.533;0.774;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190L;ENSP00000352610:P190L;ENSP00000269305:P190L;ENSP00000398846:P190L;ENSP00000391127:P190L;ENSP00000391478:P190L;ENSP00000425104:P58L;ENSP00000423862:P97L	ENSP00000269305:P190L	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578280	G	A	7578280	3	1	77	1	0	0	0	0	1	0	0	0	16378	1000	35	3	725	3	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		7578280	73616930	67	5205											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T155N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGACGCGGGTGCCGGGCGG	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942117	TP53	M		c.(463-465)aCc>aAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	52	51					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578466G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	p.T155N	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.464C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578466	G	T	7578466	3	4	77	1	0	0	0	0	1	0	0	0	16378	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	186	7578466	73616744	68	5206											
ODF4	146852	broad.mit.edu	37	chr17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacaggtccttgggccagCgccagaactctccgctgccc	7	7	11	16	2	1	1	0	0	1	1	3	1	2	1	5	2	4	2	5	2	2	2	rs147153349		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:8243550C>T	ENST00000328248.2	+	1	369	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592																																						uc002gle.1																			1	Substitution - Missense(1)	p.R61S(2)	lung(1)	endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(181-183)Cgc>Tgc		Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	76	79		181	1.3	0	17	dbSNP_134	79	0,8600		0,0,4300	no	missense	ODF4	NM_153007.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	61/258	8243550	1,13005	2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243550C>T	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.181C>T	17.37:g.8243550C>T	ENSP00000331086:p.Arg61Cys						p.R61C	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			0	363	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.181C>T	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873941	0.51695	2.27E-4	0.0	ENSG00000184650	ENST00000328248	T	0.29397	1.57	4.34	1.26	0.21427	.	0.790513	0.11133	N	0.596122	T	0.19327	0.0464	L	0.48642	1.525	0.09310	N	1	P	0.41546	0.754	B	0.25759	0.063	T	0.16778	-1.0391	10	0.87932	D	0	-3.2119	6.0197	0.19623	0.0:0.6743:0.0:0.3257	.	61	Q2M2E3	ODFP4_HUMAN	C	61	ENSP00000331086:R61C	ENSP00000331086:R61C	R	+	1	0	ODF4	8184275	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.276000	0.18716	0.581000	0.29539	0.655000	0.94253	CGC		0.592	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			T	8243550	C	T	8243550	3	4	77	1	0	0	0	0	1	0	0	0	10833	768	27	1	183	1	ODF4	17	8243550	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	665084	8243550	72951660	69	5207											
MYH13	8735	broad.mit.edu	37	chr17	10213133	10213133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagatcttgctctcctcGtgttccaaggaaccctgacg	8	10	9	14	3	2	2	0	1	2	1	5	3	3	3	3	1	2	3	3	1	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:10213133G>A	ENST00000418404.3	-	33	4834	c.4671C>T	c.(4669-4671)caC>caT	p.H1557H	MYH13_ENST00000252172.4_Silent_p.H1557H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1557					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTCTCCTCGTGTTCCAAGG	0.498																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4669-4671)caC>caT		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							24	22	23					17																	10213133		2004	4176	6180	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10213133G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4671C>T	17.37:g.10213133G>A							p.H1557H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			33	4761	-			1557					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4671C>T	CCDS45613.1																																																																																				0.498	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10213133	G	A	10213133	2	1	77	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10213133	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	1969583	10213133	70982077	70	5208											
KRT27	342574	broad.mit.edu	37	chr17	38936090	38936090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacgttgcctccagcCgcgcactgaagagctttcat	8	10	9	14	4	2	2	2	1	0	1	3	2	3	2	3	0	3	4	3	0	1	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:38936090C>T	ENST00000301656.3	-	4	748	c.708G>A	c.(706-708)gcG>gcA	p.A236A	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.A236A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCCTCCAGCCGCGCACTGAA	0.488																																						uc002hvg.3																			1	Substitution - coding silent(1)	p.A236A(2)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(706-708)gcG>gcA		Homo sapiens keratin 27 (KRT27), mRNA.							48	51	50					17																	38936090		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936090C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.708G>A	17.37:g.38936090C>T							p.A236A	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			3	749	-		Breast(137;0.000812)	236			Linker 12.|Rod.			Silent	SNP	ENST00000301656.3	37	c.708G>A	CCDS11375.1																																																																																				0.488	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		T	38936090	C	T	38936090	2	4	77	1	0	0	0	0	0	0	0	1	8464	639	23	2		2	KRT27	17	38936090	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	28722957	38936090	42259120	71	5209											
SEPT4	5414	broad.mit.edu	37	chr17	56599396	56599396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggatgttctttcggttCaggccactctcgtctcggaa	5	15	10	11	3	5	0	1	0	4	0	8	2	5	2	1	4	0	2	1	4	1	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:56599396C>A	ENST00000317268.3	-	6	905	c.729G>T	c.(727-729)ctG>ctT	p.L243L	SEPT4_ENST00000580809.1_Silent_p.L125L|SEPT4_ENST00000580844.1_Silent_p.L144L|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Silent_p.L96L|SEPT4_ENST00000579371.1_Silent_p.L144L|SEPT4_ENST00000317256.6_Silent_p.L224L|SEPT4_ENST00000426861.1_Silent_p.L224L|SEPT4_ENST00000393086.1_Silent_p.L224L|SEPT4_ENST00000412945.3_Silent_p.L235L|SEPT4_ENST00000457347.2_Silent_p.L258L	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	243	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTTCGGTTCAGGCCACTCT	0.542																																						uc010wnx.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(772-774)ctG>ctT		Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.							179	148	159					17																	56599396		2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56599396C>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.729G>T	17.37:g.56599396C>A						SEPT4_uc002iwk.2_Silent_p.L96L|SEPT4_uc010wnw.2_Silent_p.L96L|SEPT4_uc002iwl.2_Silent_p.L96L|SEPT4_uc002iwm.2_Silent_p.L243L|SEPT4_uc002iwo.2_Silent_p.L224L|SEPT4_uc002iwp.2_Silent_p.L224L|SEPT4_uc010wny.2_Silent_p.L235L|SEPT4_uc010dcy.2_Silent_p.L125L	p.L258L	NM_080416	NP_536341	O43236	SEPT4_HUMAN			6	919	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		243					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.774G>T	CCDS11610.1																																																																																				0.542	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		A	56599396	C	A	56599396	2	1	77	1	0	0	0	0	0	0	0	1	14066	813	29	5		5	SEPT4	17	56599396	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	17663306	56599396	24595814	72	5210											
C17orf71	55181	broad.mit.edu	37	chr17	57290240	57290240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaagaaaaagaacctcaaAcccaaggagagagcacgagc	20	3	9	9	1	1	3	1	0	0	3	1	6	1	4	2	1	4	1	2	1	7	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:57290240A>G	ENST00000543872.2	+	4	2320	c.2056A>G	c.(2056-2058)Acc>Gcc	p.T686A	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.T686A			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	686					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAACCTCAAACCCAAGGAGA	0.453																																						uc002ixi.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2056-2058)Acc>Gcc		Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.							129	137	134					17																	57290240		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290240A>G	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2056A>G	17.37:g.57290240A>G	ENSP00000438748:p.Thr686Ala						p.T686A	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			2	2098	+			686					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2056A>G	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516244	0.44763	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.42900	0.96;0.96	5.82	5.82	0.92795	.	0.091740	0.85682	D	0.000000	T	0.58878	0.2153	L	0.53249	1.67	0.58432	D	0.999999	D	0.63046	0.992	D	0.74348	0.983	T	0.54748	-0.8247	10	0.32370	T	0.25	-14.3639	15.365	0.74513	1.0:0.0:0.0:0.0	.	686	Q8ND04	SMG8_HUMAN	A	686	ENSP00000300917:T686A;ENSP00000438748:T686A	ENSP00000300917:T686A	T	+	1	0	SMG8	54645022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.916000	0.75776	2.222000	0.72286	0.533000	0.62120	ACC		0.453	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		G	57290240	A	G	57290240	3	3	77	1	0	0	0	0	1	0	0	0	1878	43	2	4	2066	4	C17orf71	17	57290240	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	690844	57290240	23904970	73	5211											
CASKIN2	57513	broad.mit.edu	37	chr17	73498060	73498062	+	In_Frame_Del	DEL	GGA	GGA	-																															gctggggaaggctagaagctGgaggagactcgccaggagtt																								rs150879399	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:73498060_73498062delGGA	ENST00000321617.3	-	18	3679_3681	c.3093_3095delTCC	c.(3091-3096)cctcca>cca	p.1031_1032PP>P	CASKIN2_ENST00000433559.2_In_Frame_Del_p.949_950PP>P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1031	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTAGAAGCTGGAGGAGACTCGC	0.69																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3091-3096)cctcca>cca		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	57513					cytoplasm		g.chr17:73498060_73498062delGGA	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3093_3095delTCC	17.37:g.73498063_73498065delGGA	ENSP00000325355:p.Pro1032del					CASKIN2_uc010wsc.2_In_Frame_Del_p.949_950PP>P	p.1031_1032PP>P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	3643_3645	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1031			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	In_Frame_Del	DEL	ENST00000321617.3	37	c.3093_3095delTCC	CCDS11723.1																																																																																				0.69	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		-	73498062	GGA	-	73498060	7	5	77	1	0	1	0	1	0	0	0	0	2667	1348	47	0	525	0	CASKIN2	17	73498060	In_Frame_Del	DEL	GGA	TCGA-06-2559-01A-01D-1494-08	16207820	73498060	7697150	74	5212											
PTPRS	5802	broad.mit.edu	37	chr19	5221107	5221107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcttgccgttgagcaggTtgaaggcagtccaggcggtg	6	9	18	8	2	0	2	0	2	0	0	1	2	1	2	2	5	2	5	2	5	1	3	rs372506721		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:5221107T>C	ENST00000587303.1	-	19	3458	c.3359A>G	c.(3358-3360)aAc>aGc	p.N1120S	PTPRS_ENST00000353284.2_Missense_Mutation_p.N689S|PTPRS_ENST00000357368.4_Missense_Mutation_p.N1120S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.N1116S|PTPRS_ENST00000588012.1_Missense_Mutation_p.N1098S|PTPRS_ENST00000592099.1_Missense_Mutation_p.N689S|PTPRS_ENST00000372412.4_Missense_Mutation_p.N1121S|PTPRS_ENST00000348075.2_Missense_Mutation_p.N1098S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1120	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTTGAGCAGGTTGAAGGCAGT	0.622																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3358-3360)aAc>aGc		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							127	107	114					19																	5221107		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5221107T>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3359A>G	19.37:g.5221107T>C	ENSP00000467537:p.Asn1120Ser					PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.2_Missense_Mutation_p.N689S|PTPRS_uc002mbw.3_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.3_Missense_Mutation_p.N693S|PTPRS_uc002mby.3_Missense_Mutation_p.N689S	p.N1120S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	19	3593	-			1120					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3359A>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184265	0.38609	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.52526	0.77;0.72;0.72;0.72;0.66	3.78	2.77	0.32553	.	0.074763	0.52532	U	0.000067	T	0.36468	0.0968	L	0.47716	1.5	0.36473	D	0.867406	B;B;B;B;B;P	0.45348	0.041;0.021;0.046;0.128;0.049;0.856	B;B;B;B;B;B	0.37731	0.036;0.022;0.053;0.039;0.016;0.257	T	0.44221	-0.9342	10	0.62326	D	0.03	.	8.8812	0.35376	0.0:0.0898:0.0:0.9102	.	702;689;693;1098;1120;715	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	715;1121;1120;1120;1111;1116;1098;702;693;689	ENSP00000361489:N1121S;ENSP00000349932:N1120S;ENSP00000262963:N1116S;ENSP00000269907:N1098S;ENSP00000327313:N689S	ENSP00000262963:N1116S	N	-	2	0	PTPRS	5172107	0.859000	0.29813	1.000000	0.80357	0.950000	0.60333	1.002000	0.29796	0.541000	0.28827	0.459000	0.35465	AAC		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			C	5221107	T	C	5221107	3	2	77	1	0	0	0	0	1	0	0	0	12811	1725	60	4	2563	4	PTPRS	19	5221107	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08		5221107	53907876	75	5213											
EMR1	2015	broad.mit.edu	37	chr19	6928180	6928180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgaatacagagacaggGttcatctggagtttcttggg	9	12	14	6	0	3	2	1	1	2	1	3	4	3	3	0	4	1	3	0	4	2	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:6928180G>A	ENST00000312053.4	+	17	2284	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	EMR1_ENST00000381407.5_Silent_p.G608G|EMR1_ENST00000450315.3_Silent_p.G572G|EMR1_ENST00000250572.8_Silent_p.G684G|EMR1_ENST00000381404.4_Silent_p.G697G	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	749					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGAGACAGGGTTCATCTGGA	0.498																																						uc002mfw.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2245-2247)ggG>ggA		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.							191	177	181					19																	6928180		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6928180G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2247G>A	19.37:g.6928180G>A						EMR1_uc010dvc.3_Silent_p.G684G|EMR1_uc010dvb.3_Silent_p.G697G|EMR1_uc010xji.2_Silent_p.G608G|EMR1_uc010xjj.2_Silent_p.G572G	p.G749G	NM_001974	NP_001965	Q14246	EMR1_HUMAN			16	2285	+	all_hematologic(4;0.166)		749					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2247G>A	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			A	6928180	G	A	6928180	2	1	77	1	0	0	0	0	0	0	0	1	5104	1248	44	3		3	EMR1	19	6928180	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	1707073	6928180	52200803	76	5214											
ZNF333	84449	broad.mit.edu	37	chr19	14829286	14829286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacagctctgaccttatcAggcatgagaagactcatact	13	10	8	10	0	3	3	2	2	1	2	3	5	3	3	1	1	3	2	1	1	4	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14829286A>G	ENST00000292530.6	+	12	1238	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	ZNF333_ENST00000536363.1_Missense_Mutation_p.R274G|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGACCTTATCAGGCATGAGAA	0.453																																					NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1147-1149)Agg>Ggg		Homo sapiens zinc finger protein 333 (ZNF333), mRNA.							68	67	68					19																	14829286		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829286A>G		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1147A>G	19.37:g.14829286A>G	ENSP00000292530:p.Arg383Gly					ZNF333_uc002mzk.4_Missense_Mutation_p.R274G	p.R383G	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			11	1281	+			383					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.1147A>G	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609620	0.28623	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.56103	0.48;0.48	3.34	-0.243	0.13035	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55273	0.1910	M	0.69523	2.12	0.25562	N	0.986984	P	0.44380	0.834	P	0.47346	0.544	T	0.49204	-0.8964	9	0.35671	T	0.21	.	10.0028	0.41940	0.4857:0.5143:0.0:0.0	.	383	Q96JL9	ZN333_HUMAN	G	274;383	ENSP00000439749:R274G;ENSP00000292530:R383G	ENSP00000292530:R383G	R	+	1	2	ZNF333	14690286	0.000000	0.05858	0.010000	0.14722	0.763000	0.43281	-1.635000	0.02018	-0.247000	0.09597	0.477000	0.44152	AGG		0.453	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		G	14829286	A	G	14829286	3	3	77	1	0	0	0	0	1	0	0	0	17847	179	7	4	1189	4	ZNF333	19	14829286	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	7901106	14829286	44299697	77	5215											
OR7A17	26333	broad.mit.edu	37	chr19	14991924	14991924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtctggatgttaatgaGcatctttgggattgtagtgg	7	16	14	4	0	2	1	0	1	2	0	2	3	2	3	0	3	1	3	0	3	2	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14991924G>A	ENST00000327462.2	-	1	340	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATGTTAATGAGCATCTTTGGG	0.473																																						uc010xob.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(244-246)Ctc>Ttc		Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.							136	117	124					19																	14991924		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991924G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.244C>T	19.37:g.14991924G>A	ENSP00000328144:p.Leu82Phe						p.L82F	NM_030901	NP_112163	O14581	OR7AH_HUMAN			0	244	-	Ovarian(108;0.203)		82					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.244C>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	9.870	1.198811	0.22121	.	.	ENSG00000185385	ENST00000327462	T	0.00428	7.44	2.74	0.448	0.16614	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31071	U	0.008312	T	0.01523	0.0049	H	0.96720	3.87	0.23568	N	0.997391	D	0.89917	1.0	D	0.85130	0.997	T	0.32561	-0.9902	10	0.87932	D	0	.	5.9266	0.19116	0.1228:0.1962:0.681:0.0	.	82	O14581	OR7AH_HUMAN	F	82	ENSP00000328144:L82F	ENSP00000328144:L82F	L	-	1	0	OR7A17	14852924	0.161000	0.22892	0.915000	0.36163	0.073000	0.16967	0.379000	0.20585	0.228000	0.21019	-0.843000	0.03049	CTC		0.473	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991924	G	A	14991924	3	1	77	1	0	0	0	0	1	0	0	0	11215	971	34	3	687	3	OR7A17	19	14991924	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	162638	14991924	44137059	78	5216											
PSG5	5673	broad.mit.edu	37	chr19	43679606	43679606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgaagggtaaatgctgGggaggtctggaccatctgga	11	9	16	5	0	2	2	0	2	2	0	2	5	2	5	1	6	1	2	1	6	4	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:43679606G>A	ENST00000366175.3	-	4	855	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG5_ENST00000404580.1_Missense_Mutation_p.P242L|PSG5_ENST00000342951.6_Missense_Mutation_p.P242L|PSG5_ENST00000407356.1_Missense_Mutation_p.P242L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.P335L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	242	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAAATGCTGGGGAGGTCTGG	0.498																																						uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(724-726)cCc>cTc		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.							128	142	137					19																	43679606		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679606G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.725C>T	19.37:g.43679606G>A	ENSP00000382334:p.Pro242Leu					PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P242L	p.P242L	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	856	-		Prostate(69;0.00899)	242			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.725C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	11.55	1.672213	0.29693	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	1.25	1.25	0.21368	Immunoglobulin-like (1);	.	.	.	.	T	0.50616	0.1626	M	0.93854	3.465	0.09310	N	0.999998	D;B	0.89917	1.0;0.085	D;B	0.91635	0.999;0.269	T	0.29243	-1.0018	9	0.87932	D	0	.	5.8107	0.18465	0.0:0.0:1.0:0.0	.	335;242	Q15228;Q15238	.;PSG5_HUMAN	L	242	ENSP00000382334:P242L;ENSP00000386008:P242L;ENSP00000344413:P242L;ENSP00000385250:P242L	ENSP00000344413:P242L	P	-	2	0	PSG5	48371446	0.249000	0.23941	0.016000	0.15963	0.005000	0.04900	2.369000	0.44231	0.644000	0.30656	0.184000	0.17185	CCC		0.498	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		A	43679606	G	A	43679606	3	1	77	1	0	0	0	0	1	0	0	0	12658	1232	43	3	290	3	PSG5	19	43679606	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	28687682	43679606	15449377	79	5217											
KIR2DL4	3811	broad.mit.edu	37	chr19	55316286	55316286	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctgcctggcccagcGctgtggtgcctcaaggagga	5	9	14	13	1	3	0	1	0	2	0	3	2	3	2	3	4	4	2	3	4	1	0	rs369994438	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:55316286G>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A39T|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A39T|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.A37T|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A39T|KIR2DL4_ENST00000463062.1_3'UTR			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCCCAGCGCTGTGGTGCC	0.582													g|||	3	0.000599042	0	0	5008	,	,		10373	0.003		0	False		,,,				2504	0					uc010yfl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(109-111)Gct>Act		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.							57	53	54					19																	55316286		2125	3804	5929	SO:0001627	intron_variant	3805				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55316286G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-12703G>A	19.37:g.55316286G>A						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.A39T|KIR3DL2_uc002qhi.3_Missense_Mutation_p.A39T|KIR3DL2_uc021vbn.1_Missense_Mutation_p.A39T|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.A39T|KIR3DL2_uc010esd.3_Missense_Mutation_p.A39T|KIR3DL2_uc010ese.3_5'Flank	p.A37T	NM_002255	NP_002246	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	142	+			132					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	G	9.490	1.100402	0.20552	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396289	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	1.42	-2.6	0.06190	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.926830	0.04036	U	0.302269	T	0.11153	0.0272	N	0.17800	0.525	0.09310	N	1	D;B;P;P;P;P	0.63046	0.992;0.014;0.749;0.548;0.742;0.498	P;B;B;B;B;B	0.53809	0.735;0.009;0.031;0.028;0.04;0.028	T	0.10941	-1.0608	10	0.66056	D	0.02	.	2.7592	0.05302	0.0:0.3124:0.2696:0.418	.	39;37;39;39;39;39	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q99706-3	KI2L4_HUMAN;.;.;.;.;.	T	37;39;39;39;37	ENSP00000379580:A37T;ENSP00000351988:A39T;ENSP00000339634:A39T;ENSP00000350088:A39T;ENSP00000379584:A37T	ENSP00000339634:A39T	A	+	1	0	KIR2DL4	60008098	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-0.839000	0.04368	-0.753000	0.04721	0.205000	0.17691	GCT		0.582	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		A	55316286	G	A	55316286	1	1	77	0	1	0	0	0	0	0	0	0	8318	1087	38	1		1	KIR2DL4	19	55316286	Intron	SNP	G	TCGA-06-2559-01A-01D-1494-08	11636680	55316286	3812697	80	5218											
NLRP4	147945	broad.mit.edu	37	chr19	56369522	56369522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgacttgatggagaaaCggccggtgcaggtgcttctg	7	10	17	7	2	1	3	0	2	1	1	1	4	1	3	1	5	3	2	1	5	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:56369522C>T	ENST00000301295.6	+	3	1185	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NLRP4_ENST00000587891.1_Missense_Mutation_p.R180W|NLRP4_ENST00000346986.5_Missense_Mutation_p.R255W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	255	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R255R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGGAGAAACGGCCGGTGCA	0.577																																						uc002qmd.4																			1	Substitution - coding silent(1)	p.R255R(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(763-765)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							79	85	83					19																	56369522		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369522C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.763C>T	19.37:g.56369522C>T	ENSP00000301295:p.Arg255Trp					NLRP4_uc002qmf.3_Missense_Mutation_p.R180W|NLRP4_uc010etf.3_Missense_Mutation_p.R86W	p.R255W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	1185	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	255			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.763C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646717	0.47258	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.79141	-1.24;-1.24	4.1	1.73	0.24493	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.83436	0.5254	L	0.55990	1.75	0.09310	N	1	B;D;D	0.89917	0.007;0.984;1.0	B;P;D	0.75484	0.007;0.584;0.986	T	0.71507	-0.4572	9	0.66056	D	0.02	.	10.5133	0.44874	0.343:0.657:0.0:0.0	.	255;180;255	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	255	ENSP00000301295:R255W;ENSP00000344787:R255W	ENSP00000301295:R255W	R	+	1	2	NLRP4	61061334	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.883000	0.04170	1.043000	0.40175	0.655000	0.94253	CGG		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56369522	C	T	56369522	3	4	77	1	0	0	0	0	1	0	0	0	10479	527	19	1	769	1	NLRP4	19	56369522	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	1053236	56369522	2759461	81	5219											
MAPK1	5594	broad.mit.edu	37	chr22	22142672	22142672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgtgatggggatccaaGaatacctatcagataaaaaa	16	11	8	6	0	2	3	1	1	1	2	3	4	3	4	2	2	1	0	2	2	7	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:22142672G>A	ENST00000215832.6	-	6	918	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	MAPK1_ENST00000398822.3_Missense_Mutation_p.L244F|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GGGGATCCAAGAATACCTATC	0.353																																						uc002zvn.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(730-732)Ctt>Ttt		Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	Arsenic trioxide(DB01169)						74	81	79					22																	22142672		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22142672G>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.730C>T	22.37:g.22142672G>A	ENSP00000215832:p.Leu244Phe					MAPK1_uc002zvo.3_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron	p.L244F	NM_002745	NP_620407	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	5	970	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	244			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.730C>T	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429166	0.83776	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822	T;T	0.51817	0.69;0.69	6.03	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.69248	2.105	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.66448	-0.5921	10	0.87932	D	0	-0.7567	14.7365	0.69419	0.0686:0.0:0.9314:0.0	.	244	P28482	MK01_HUMAN	F	244;232;244	ENSP00000215832:L244F;ENSP00000381803:L244F	ENSP00000215832:L244F	L	-	1	0	MAPK1	20472672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.854000	0.98071	0.655000	0.94253	CTT		0.353	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			A	22142672	G	A	22142672	3	1	77	1	0	0	0	0	1	0	0	0	9271	942	33	3	364	3	MAPK1	22	22142672	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		22142672	29161894	82	5220											
IL2RB	3560	broad.mit.edu	37	chr22	37524496	37524496	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccaccgaggagactGggggagaagagcagcaggtc	10	3	19	9	1	0	3	0	0	0	3	1	6	0	3	2	6	2	2	2	6	1	0	rs143704470		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:37524496G>T	ENST00000216223.5	-	10	1494	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	432					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGAGGAGACTGGGGGAGAAGA	0.662																																						uc003aqv.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1294-1296)ccC>ccA		Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	G		1,4393		0,1,2196	15	16	16		1296	-5.7	0	22	dbSNP_134	16	0,8564		0,0,4282	no	coding-synonymous	IL2RB	NM_000878.2		0,1,6478	TT,TG,GG		0.0,0.0228,0.0077		432/552	37524496	1,12957	2197	4282	6479	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524496G>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1296C>A	22.37:g.37524496G>T							p.P432P	NM_000878	NP_000869	P14784	IL2RB_HUMAN			9	1427	-			432					B2R765	Silent	SNP	ENST00000216223.5	37	c.1296C>A	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			T	37524496	G	T	37524496	2	4	77	1	0	0	0	0	0	0	0	1	7687	1335	47	5		5	IL2RB	22	37524496	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	15381824	37524496	13780070	83	5221											
BCOR	54880	broad.mit.edu	37	chrX	39923055	39923055	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgacacctgctgctccCatcgttctctaaggtgcagc	6	10	9	16	2	1	0	0	0	1	0	4	1	2	0	3	1	5	4	3	1	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:39923055C>T	ENST00000378444.4	-	8	3881	c.3653G>A	c.(3652-3654)tGg>tAg	p.W1218*	BCOR_ENST00000378463.1_Nonsense_Mutation_p.W61*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.W1184*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.W1184*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.W1166*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1218					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTGCTCCCATCGTTCTCT	0.542			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3652-3654)tGg>tAg		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							87	78	81					X																	39923055		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923055C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3653G>A	X.37:g.39923055C>T	ENSP00000367705:p.Trp1218*					BCOR_uc004dep.4_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.4_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Nonsense_Mutation_p.W1184*	p.W1218*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			7	3945	-			1218					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.3653G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	44	11.009604	0.99503	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4878	16.6977	0.85340	0.0:1.0:0.0:0.0	.	.	.	.	X	88;61;1166;1184;1218;1184;1184	.	ENSP00000345923:W1184X	W	-	2	0	BCOR	39807999	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.691000	0.74573	2.317000	0.78254	0.529000	0.55759	TGG		0.542	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39923055	C	T	39923055	4	4	77	1	0	0	0	0	0	1	0	0	1386	595	21	3	1646	3	BCOR	23	39923055	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		39923055	115347505	84	5222											
TAF1	6872	broad.mit.edu	37	chrX	70680612	70680612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcctatgagggagaCggtggggaggcttcccatgg	8	9	17	7	1	0	3	0	2	0	1	2	5	2	4	2	6	0	1	2	6	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:70680612C>T	ENST00000373790.4	+	37	5406	c.5355C>T	c.(5353-5355)gaC>gaT	p.D1785D	TAF1_ENST00000276072.3_Silent_p.D1806D|TAF1_ENST00000449580.1_Silent_p.D1819D|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Silent_p.D1808D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1785	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATGAGGGAGACGGTGGGGAGG	0.507																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(5353-5355)gaC>gaT		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							124	86	99					X																	70680612		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70680612C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5355C>T	X.37:g.70680612C>T						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.D1806D|TAF1_uc004dzv.4_Silent_p.D993D|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	p.D1785D	NM_138923	NP_620278	P21675	TAF1_HUMAN			36	5406	+	Renal(35;0.156)	all_lung(315;0.000321)	1785			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.5355C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018527	0.19355	.	.	ENSG00000147133	ENST00000437147	.	.	.	4.9	-1.57	0.08506	.	.	.	.	.	T	0.51618	0.1685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42749	-0.9433	4	.	.	.	.	7.2503	0.26146	0.1414:0.1664:0.0:0.6922	.	.	.	.	M	474	.	.	T	+	2	0	TAF1	70597337	0.181000	0.23161	0.986000	0.45419	0.984000	0.73092	-0.617000	0.05584	-0.353000	0.08224	-0.297000	0.09499	ACG		0.507	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70680612	C	T	70680612	2	4	77	1	0	0	0	0	0	0	0	1	15510	535	19	1		1	TAF1	23	70680612	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	30757557	70680612	84589948	85	5223											
CYLC1	1538	broad.mit.edu	37	chrX	83128394	83128394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagaaagatttgaagagGtcaaagactagtaatgatcc	18	8	9	6	0	1	6	1	2	0	4	2	6	2	6	2	1	0	1	2	1	6	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:83128394G>A	ENST00000329312.4	+	4	715	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	226					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATTTGAAGAGGTCAAAGACTA	0.318																																						uc004eei.1																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(676-678)agG>agA		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.							30	28	28					X																	83128394		2193	4289	6482	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128394G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.678G>A	X.37:g.83128394G>A						CYLC1_uc004eeh.1_Silent_p.R225R	p.R226R	NM_021118	NP_066941	P35663	CYLC1_HUMAN			3	699	+			226					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.678G>A	CCDS35341.1																																																																																				0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		A	83128394	G	A	83128394	2	1	77	1	0	0	0	0	0	0	0	1	4141	1252	44	3		3	CYLC1	23	83128394	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	12447782	83128394	72142166	86	5224											
PCDH11X	27328	broad.mit.edu	37	chrX	91132792	91132792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattcagcctggattgtcGtacaggcatgctgactgtag	9	12	12	8	1	1	2	1	2	0	0	2	3	1	3	1	2	3	4	1	2	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:91132792G>A	ENST00000373094.1	+	2	2398	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	PCDH11X_ENST00000361724.1_Missense_Mutation_p.R518H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R518H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R518H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R518H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.R518H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R518H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R518H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R518H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGATTGTCGTACAGGCATG	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0		p.R518S(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1552-1554)cGt>cAt		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							74	63	66					X																	91132792		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132792G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1553G>A	X.37:g.91132792G>A	ENSP00000362186:p.Arg518His					PCDH11X_uc004efl.2_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.2_Missense_Mutation_p.R518H|PCDH11X_uc004efm.2_Missense_Mutation_p.R518H|PCDH11X_uc004efn.2_Missense_Mutation_p.R518H|PCDH11X_uc004efo.2_Missense_Mutation_p.R518H|PCDH11X_uc004efh.2_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	p.R518H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2398	+			518			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1553G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	2.469	-0.322410	0.05350	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.38	1.6	0.23607	Cadherin (4);Cadherin-like (1);	0.166981	0.51477	N	0.000083	T	0.29458	0.0734	N	0.20807	0.61	0.29771	N	0.834756	B;B;P;P;P;P;B;B	0.38048	0.194;0.07;0.562;0.562;0.562;0.616;0.119;0.119	B;B;B;B;B;B;B;B	0.36719	0.063;0.019;0.09;0.09;0.09;0.231;0.063;0.063	T	0.17592	-1.0364	10	0.49607	T	0.09	.	9.1583	0.37007	0.3151:0.0:0.6849:0.0	.	518;518;518;518;518;518;518;518	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	518	ENSP00000378746:R518H;ENSP00000362186:R518H;ENSP00000362189:R518H;ENSP00000355040:R518H;ENSP00000362180:R518H;ENSP00000423762:R518H;ENSP00000355105:R518H;ENSP00000384758:R518H;ENSP00000298274:R518H	ENSP00000298274:R518H	R	+	2	0	PCDH11X	91019448	1.000000	0.71417	0.702000	0.30337	0.110000	0.19582	4.465000	0.60141	0.128000	0.18479	-0.268000	0.10319	CGT		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91132792	G	A	91132792	3	1	77	1	0	0	0	0	1	0	0	0	11508	1145	40	1	1559	1	PCDH11X	23	91132792	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	8004398	91132792	64137768	87	5225											
PUM1	9698	broad.mit.edu	37	chr1	31409615	31409615	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccgtcgttcatggtgcAcacctcatcgatgagcacag	9	8	12	12	3	2	1	2	1	0	0	4	3	2	2	2	2	2	3	2	2	0	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:31409615A>C	ENST00000257075.5	-	21	3397	c.3304T>G	c.(3304-3306)Tgc>Ggc	p.C1102G	PUM1_ENST00000373742.2_Missense_Mutation_p.C1043G|PUM1_ENST00000426105.2_Missense_Mutation_p.C1104G|PUM1_ENST00000440538.2_Missense_Mutation_p.C1078G|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000423018.2_Missense_Mutation_p.C960G|PUM1_ENST00000373747.3_Missense_Mutation_p.C1105G|PUM1_ENST00000424085.2_Missense_Mutation_p.C860G|PUM1_ENST00000373741.4_Missense_Mutation_p.C1140G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1102	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATGGTGCACACCTCATCG	0.522																																						uc001bsi.1																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3304-3306)Tgc>Ggc		Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.							168	125	140					1																	31409615		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31409615A>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3304T>G	1.37:g.31409615A>C	ENSP00000257075:p.Cys1102Gly					PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc021okk.1_5'Flank	p.C1102G	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	20	3417	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1102			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3304T>G	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	29.7|29.7|29.7	5.030927|5.030927|5.030927	0.93575|0.93575|0.93575	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525997|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|.|T;T	0.13778|.|0.14766	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56|.|2.48;2.48	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.38054|0.38054|0.38054	0.1026|0.1026|0.1026	M|M|M	0.82923|0.82923|0.82923	2.615|2.615|2.615	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;P;D;D;P;D;D|.|.	0.63880|.|.	0.977;0.964;0.925;0.991;0.977;0.925;0.977;0.993|.|.	P;P;P;P;P;P;P;D|.|.	0.65323|.|.	0.896;0.69;0.768;0.883;0.896;0.624;0.896;0.934|.|.	T|T|T	0.18903|0.18903|0.18903	-1.0322|-1.0322|-1.0322	10|6|6	0.87932|.|.	D|.|.	0|.|.	-7.478|-7.478|-7.478	16.1115|16.1115|16.1115	0.81266|0.81266|0.81266	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	1043;960;1140;1078;1102;1104;1105;1104|.|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.|.	.;.;.;.;PUM1_HUMAN;.;.;.|.|.	G|W|G	860;1102;1105;842;1104;1078;1140;960;1043;213|202|1040;815	ENSP00000400141:C860G;ENSP00000257075:C1102G;ENSP00000362852:C1105G;ENSP00000391723:C1104G;ENSP00000401777:C1078G;ENSP00000362846:C1140G;ENSP00000399440:C960G;ENSP00000362847:C1043G;ENSP00000431213:C213G|.|ENSP00000435825:V1040G;ENSP00000433850:V815G	ENSP00000257075:C1102G|.|.	C|C|V	-|-|-	1|3|2	0|2|0	PUM1|PUM1|PUM1	31182202|31182202|31182202	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.207000|2.207000|2.207000	0.71202|0.71202|0.71202	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	TGC|TGT|GTG		0.522	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			C	31409615	A	C	31409615	3	2	78	1	0	0	0	0	1	0	0	0	12825	159	6	5	264	5	PUM1	1	31409615	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08		31409615	217841006	1	5226											
SOAT1	6646	broad.mit.edu	37	chr1	179304764	179304764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaaccttttctgttcttGaaggagagaaaaacaaccat	15	11	6	9	0	3	2	1	1	2	1	3	4	3	3	2	1	3	1	2	1	5	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304764G>A	ENST00000367619.3	+	4	444	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.E36K|SOAT1_ENST00000540564.1_Missense_Mutation_p.E43K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	101					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTCTGTTCTTGAAGGAGAGAA	0.393																																						uc001gml.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(301-303)Gaa>Aaa		Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Ezetimibe(DB00973)|Hesperetin(DB01094)						124	121	122					1																	179304764		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179304764G>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.301G>A	1.37:g.179304764G>A	ENSP00000356591:p.Glu101Lys					SOAT1_uc010pni.2_Missense_Mutation_p.E36K|SOAT1_uc001gmm.3_Missense_Mutation_p.E43K|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.E36K	p.E101K	NM_003101	NP_003092	P35610	SOAT1_HUMAN			3	532	+			101					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.301G>A	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	8.512	0.866777	0.17250	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.13	-1.58	0.08479	.	0.564437	0.18593	N	0.136678	T	0.07908	0.0198	N	0.16478	0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36311	-0.9753	10	0.06099	T	0.92	-31.1438	5.1765	0.15137	0.5018:0.2321:0.2661:0.0	.	43;101	A8K3P4;P35610	.;SOAT1_HUMAN	K	36;43;101;101	ENSP00000441356:E36K;ENSP00000445315:E43K;ENSP00000356591:E101K;ENSP00000411309:E101K	ENSP00000356591:E101K	E	+	1	0	SOAT1	177571387	0.996000	0.38824	0.993000	0.49108	0.978000	0.69477	0.623000	0.24447	0.157000	0.19338	0.655000	0.94253	GAA		0.393	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		A	179304764	G	A	179304764	3	1	78	1	0	0	0	0	1	0	0	0	14910	1291	45	3	311	3	SOAT1	1	179304764	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	147895149	179304764	69945857	2	5227			1	17		2	2	30	G		4.496495e-05
SOAT1	6646	broad.mit.edu	37	chr1	179304793	179304793	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacaaccatagagcgaaGtaagtatgtgctattttctt	16	12	7	6	1	1	1	0	0	1	1	1	2	1	1	1	0	4	3	1	0	8	7			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304793G>C	ENST00000367619.3	+	4	472		c.e4+1		SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATAGAGCGAAGTAAGTATGTG	0.398																																						uc001gml.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.e4+1		Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Ezetimibe(DB00973)|Hesperetin(DB01094)						107	105	106					1																	179304793		2203	4300	6503	SO:0001630	splice_region_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179304793G>C	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.329+1G>C	1.37:g.179304793G>C						SOAT1_uc010pni.2_Splice_Site_p.K45_splice|SOAT1_uc001gmm.3_Splice_Site_p.K52_splice|SOAT1_uc010pnj.2_Splice_Site|SOAT1_uc010pnk.2_Splice_Site_p.K45_splice	p.K110_splice	NM_003101	NP_003092	P35610	SOAT1_HUMAN			4	560	+			110					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Splice_Site	SNP	ENST00000367619.3	37	c.329_splice	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094465	0.36952	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3443	0.83117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SOAT1	177571416	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	6.078000	0.71282	2.440000	0.82611	0.655000	0.94253	.		0.398	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	Intron	C	179304793	G	C	179304793	5	2	78	1	0	0	0	0	0	0	1	0	14910	1043	36	5	340	5	SOAT1	1	179304793	Splice_Site	SNP	G	TCGA-06-2561-01A-02D-1494-08	29	179304793	69945828	3	5228			1	17		2	2	30	G		4.496495e-05
KCNT2	343450	broad.mit.edu	37	chr1	196398829	196398829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacaatgcagaaataaaGggagtcaaagagattcagct	17	7	10	7	1	3	2	3	0	0	2	3	4	3	3	0	1	2	2	0	1	5	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:196398829G>T	ENST00000294725.9	-	9	1612	c.697C>A	c.(697-699)Ctt>Att	p.L233I	KCNT2_ENST00000367431.4_Missense_Mutation_p.L233I|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L233I|KCNT2_ENST00000367433.5_Missense_Mutation_p.L233I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	233					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGAAATAAAGGGAGTCAAAG	0.393																																						uc001gtd.1																			0		p.S232F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(697-699)Ctt>Att		Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.							99	88	92					1																	196398829		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398829G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.697C>A	1.37:g.196398829G>T	ENSP00000294725:p.Leu233Ile					KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L233I|KCNT2_uc001gtf.1_Missense_Mutation_p.L233I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.L233I|KCNT2_uc009wyv.1_Missense_Mutation_p.L208I	p.L233I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			8	757	-			233					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.697C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371277	0.42003	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.32988	1.43;1.43;1.43	5.31	5.31	0.75309	Ion transport 2 (1);	0.000000	0.48767	D	0.000169	T	0.28863	0.0716	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.33288	0.406;0.11;0.027;0.406	B;B;B;B	0.34385	0.181;0.114;0.028;0.181	T	0.04946	-1.0916	10	0.11794	T	0.64	-18.9755	18.9677	0.92702	0.0:0.0:1.0:0.0	.	233;233;233;233	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	I	233;233;54;233	ENSP00000356403:L233I;ENSP00000356401:L233I;ENSP00000294725:L233I	ENSP00000294725:L233I	L	-	1	0	KCNT2	194665452	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.415000	0.66411	2.487000	0.83934	0.655000	0.94253	CTT		0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		T	196398829	G	T	196398829	3	4	78	1	0	0	0	0	1	0	0	0	8092	1000	35	5	2790	5	KCNT2	1	196398829	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	17094036	196398829	52851792	4	5229											
BCL11A	53335	broad.mit.edu	37	chr2	60679781	60679781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctctctgggtactacgccGaatgggggtgtgtgaagaac	9	9	15	8	2	1	2	0	1	1	1	2	3	1	2	1	3	4	2	1	3	5	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:60679781G>A	ENST00000356842.4	-	5	2479	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	BCL11A_ENST00000537768.1_Missense_Mutation_p.R420W|BCL11A_ENST00000538214.1_Silent_p.F767F|BCL11A_ENST00000359629.5_Silent_p.F217F	NM_018014.3	NP_060484.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTACTACGCCGAATGGGGGTG	0.498			T	IGH@	B-CLL																																	uc002sab.3				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2251-2253)Cgg>Tgg		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 2, mRNA.							74	81	79					2																	60679781		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60679781G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000356842.4:c.2251C>T	2.37:g.60679781G>A	ENSP00000349300:p.Arg751Trp					BCL11A_uc002sac.3_Silent_p.F217F|BCL11A_uc010ypi.2_Missense_Mutation_p.R420W|BCL11A_uc010ypj.2_Silent_p.F767F	p.R751W	NM_018014	NP_060484	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2479	-			0					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000356842.4	37	c.2251C>T	CCDS1861.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285940	0.40394	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000537768	T;T	0.08896	3.04;3.18	5.92	5.92	0.95590	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.30820	N	0.737934	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02437	-1.1159	8	0.87932	D	0	.	9.2097	0.37311	0.1204:0.0:0.8796:0.0	.	420;751	B4DT16;D9YZV9	.;.	W	751;776;420	ENSP00000349300:R751W;ENSP00000443712:R420W	ENSP00000349300:R751W	R	-	1	2	BCL11A	60533285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.271000	0.58902	2.810000	0.96702	0.650000	0.86243	CGG		0.498	BCL11A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251578.3	NM_022893		A	60679781	G	A	60679781	3	1	78	1	0	0	0	0	1	0	0	0	1363	1058	37	2	84	2	BCL11A	2	60679781	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		60679781	182519592	5	5230											
ALMS1	7840	broad.mit.edu	37	chr2	73717955	73717955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaggtcaggattctataGcttcagaccttccgtctccc	8	12	7	14	1	5	1	3	0	2	1	7	2	6	2	3	2	1	1	3	2	3	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717955G>C	ENST00000264448.6	+	10	8977	c.8866G>C	c.(8866-8868)Gct>Cct	p.A2956P	ALMS1_ENST00000409009.1_Missense_Mutation_p.A2914P|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2956					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGATTCTATAGCTTCAGACCT	0.438																																						uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8866-8868)Gct>Cct		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							153	143	146					2																	73717955		1882	4111	5993	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717955G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8866G>C	2.37:g.73717955G>C	ENSP00000264448:p.Ala2956Pro					ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.3_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	p.A2956P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			9	8977	+			2956					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8866G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	g	9.891	1.204128	0.22205	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08546	3.08;3.08	4.78	1.99	0.26369	.	0.536306	0.17260	N	0.180817	T	0.17023	0.0409	L	0.46157	1.445	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.976;0.976;0.976	T	0.04509	-1.0946	10	0.72032	D	0.01	.	5.5969	0.17331	0.0907:0.0:0.5562:0.3531	.	2956;2914;2956	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	P	2914;2956	ENSP00000386627:A2914P;ENSP00000264448:A2956P	ENSP00000264448:A2956P	A	+	1	0	ALMS1	73571463	0.519000	0.26242	0.055000	0.19348	0.111000	0.19643	0.037000	0.13840	0.472000	0.27344	-0.127000	0.14921	GCT		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73717955	G	C	73717955	3	2	78	1	0	0	0	0	1	0	0	0	535	971	34	5	8904	5	ALMS1	2	73717955	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	13038174	73717955	169481418	6	5231			2	18		2	2	31	G		4.651543e-05
ALMS1	7840	broad.mit.edu	37	chr2	73717985	73717985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgtctcccatttctcttGaacaatgccaaagcaaagcg	11	11	6	13	2	2	1	0	1	2	0	5	1	3	1	3	0	4	1	3	0	4	3	rs561233377		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717985G>C	ENST00000264448.6	+	10	9007	c.8896G>C	c.(8896-8898)Gaa>Caa	p.E2966Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E2924Q|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2966					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTCTCTTGAACAATGCCA	0.428													G|||	1	0.000199681	0	0	5008	,	,		22171	0		0	False		,,,				2504	0.001					uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8896-8898)Gaa>Caa		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							137	129	132					2																	73717985		1881	4113	5994	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717985G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8896G>C	2.37:g.73717985G>C	ENSP00000264448:p.Glu2966Gln					ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.3_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	p.E2966Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			9	9007	+			2966					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8896G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	g	9.353	1.066086	0.20067	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08458	3.09;3.09	4.78	3.0	0.34707	.	0.447160	0.20381	N	0.093441	T	0.13114	0.0318	L	0.43152	1.355	0.58432	D	0.999997	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.54856	0.762;0.762;0.762	T	0.02294	-1.1181	10	0.62326	D	0.03	.	7.1221	0.25450	0.1954:0.0:0.8046:0.0	.	2966;2924;2966	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Q	2924;2966	ENSP00000386627:E2924Q;ENSP00000264448:E2966Q	ENSP00000264448:E2966Q	E	+	1	0	ALMS1	73571493	1.000000	0.71417	0.671000	0.29857	0.099000	0.18886	1.621000	0.36986	0.949000	0.37715	0.650000	0.86243	GAA		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73717985	G	C	73717985	3	2	78	1	0	0	0	0	1	0	0	0	535	1291	45	5	8934	5	ALMS1	2	73717985	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	30	73717985	169481388	7	5232			2	18		2	2	31	G		4.651543e-05
TTN	7273	broad.mit.edu	37	chr2	179623871	179623871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatggcttgattttcttGtctttgctgtaccacgacac	7	15	9	10	2	2	2	0	1	2	1	2	4	2	2	1	1	2	3	1	1	1	6			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:179623871G>T	ENST00000591111.1	-	44	10367	c.10143C>A	c.(10141-10143)gaC>gaA	p.D3381E	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3381E|TTN_ENST00000342992.6_Missense_Mutation_p.D3381E|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3335E|TTN_ENST00000359218.5_Missense_Mutation_p.D3335E|TTN_ENST00000342175.6_Missense_Mutation_p.D3335E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D3381E			Q8WZ42	TITIN_HUMAN	titin	13697	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTTCTTGTCTTTGCTGT	0.368																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10141-10143)gaC>gaA		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							125	110	115					2																	179623871		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623871G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10143C>A	2.37:g.179623871G>T	ENSP00000465570:p.Asp3381Glu					TTN_uc021vsz.1_Missense_Mutation_p.D3335E|TTN_uc021vta.1_Missense_Mutation_p.D3335E|TTN_uc021vtb.1_Missense_Mutation_p.D3335E|TTN_uc002umz.1_Missense_Mutation_p.D42E|TTN_uc002unb.2_Missense_Mutation_p.D3381E	p.D3381E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		43	10368	-			4324			Ig-like 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10143C>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.925651	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.92	3.18	0.36537	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49881	0.1583	N	0.25485	0.75	0.22601	N	0.998946	B;B;B;B;B	0.31193	0.003;0.003;0.003;0.003;0.312	B;B;B;B;B	0.25884	0.009;0.009;0.009;0.011;0.064	T	0.45249	-0.9274	9	0.87932	D	0	.	7.6281	0.28224	0.1988:0.1196:0.6815:0.0	.	3335;3335;3335;3381;3381	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	3381;3335;3335;3335;3335;3381	ENSP00000343764:D3381E;ENSP00000434586:D3335E;ENSP00000340554:D3335E;ENSP00000352154:D3335E;ENSP00000354117:D3381E	ENSP00000340554:D3335E	D	-	3	2	TTN	179332116	0.968000	0.33430	1.000000	0.80357	0.992000	0.81027	-0.019000	0.12546	0.856000	0.35383	-0.136000	0.14681	GAC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179623871	G	T	179623871	3	4	78	1	0	0	0	0	1	0	0	0	16732	1368	48	5	101121	5	TTN	2	179623871	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	105905886	179623871	63575502	8	5233											
AOX1	316	broad.mit.edu	37	chr2	201527627	201527627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcgaaggccagcccttcGaatactttgtttatggagct	10	11	11	9	2	0	0	0	0	0	0	1	3	0	1	2	3	3	2	2	3	5	5	rs142723794	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:201527627G>A	ENST00000374700.2	+	31	3719	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1160					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAGCCCTTCGAATACTTTGT	0.483																																						uc002uvx.3																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3478-3480)Gaa>Aaa		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	G	LYS/GLU	0,4406		0,0,2203	170	160	163		3478	2.8	0.9	2	dbSNP_134	163	10,8590	7.1+/-27.0	0,10,4290	yes	missense	AOX1	NM_001159.3	56	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	1160/1339	201527627	10,12996	2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201527627G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3478G>A	2.37:g.201527627G>A	ENSP00000363832:p.Glu1160Lys					AOX1_uc010zhf.2_Missense_Mutation_p.E716K|AOX1_uc010fsu.3_Missense_Mutation_p.E526K	p.E1160K	NM_001159	NP_001150	Q06278	ADO_HUMAN			30	3579	+			1160					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3478G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916405	0.17907	0.0	0.001163	ENSG00000138356	ENST00000374700;ENST00000260930	T;T	0.37915	1.17;1.17	5.91	2.81	0.32909	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.224065	0.46758	N	0.000273	T	0.16471	0.0396	N	0.10837	0.055	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.18618	-1.0331	10	0.16896	T	0.51	-25.9697	7.6204	0.28181	0.1621:0.3185:0.5194:0.0	.	1160	Q06278	ADO_HUMAN	K	1160;46	ENSP00000363832:E1160K;ENSP00000260930:E46K	ENSP00000260930:E46K	E	+	1	0	AOX1	201235872	0.000000	0.05858	0.918000	0.36340	0.954000	0.61252	-0.087000	0.11215	1.447000	0.47661	0.555000	0.69702	GAA		0.483	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201527627	G	A	201527627	3	1	78	1	0	0	0	0	1	0	0	0	729	1059	37	2	3600	2	AOX1	2	201527627	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	21903756	201527627	41671746	9	5234											
CREB1	1385	broad.mit.edu	37	chr2	208434967	208434971	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-																															ggattgaagaagagaagtctGaagaggagacttcagcacct																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:208434967_208434971delGAAGA	ENST00000432329.2	+	6	720_724	c.469_473delGAAGA	c.(469-474)gaagagfs	p.EE157fs	CREB1_ENST00000536726.1_Frame_Shift_Del_p.EE143fs|CREB1_ENST00000539789.1_Frame_Shift_Del_p.EE117fs|CREB1_ENST00000374397.4_Frame_Shift_Del_p.EE157fs|CREB1_ENST00000430624.1_Frame_Shift_Del_p.EE143fs|CREB1_ENST00000353267.3_Frame_Shift_Del_p.EE143fs	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	157	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	AGAGAAGTCTGAAGAGGAGACTTCA	0.371			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"																																	uc002vcc.3				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"clear cell sarcoma, angiomatoid fibrous histiocytoma"	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(469-474)gaagagfs		Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)																																			SO:0001589	frameshift_variant	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208434967_208434971delGAAGA	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"basic leucine zipper proteins"	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.469_473delGAAGA	2.37:g.208434967_208434971delGAAGA	ENSP00000387699:p.Glu157fs					CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.3_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_Non-coding_Transcript	p.E157fs	NM_134442	NP_604391	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	5	720_724	+			157			KID.		P21934|Q6V963|Q9UMA7	Frame_Shift_Del	DEL	ENST00000432329.2	37	c.469_473delGAAGA	CCDS2375.1																																																																																				0.371	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		-	208434971	GAAGA	-	208434967	7	5	78	1	0	1	0	1	0	0	0	0	3854	1291	45	0	487	0	CREB1	2	208434967	Frame_Shift_Del	DEL	GAAGA	TCGA-06-2561-01A-02D-1494-08	6907340	208434967	34764406	10	5235											
XRCC5	7520	broad.mit.edu	37	chr2	216995664	216995664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacaaatgaaatataaatCggaggggaagtgcttctctg	15	9	12	5	1	1	1	0	1	1	0	3	4	1	4	0	4	2	1	0	4	7	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:216995664C>T	ENST00000392133.3	+	11	1465	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	XRCC5_ENST00000392132.2_Missense_Mutation_p.S335L|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	335	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATAAATCGGAGGGGAAG	0.368								Non-homologous end-joining																														uc002vfy.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1003-1005)tCg>tTg	Non-homologous end-joining	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.							151	154	153					2																	216995664		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216995664C>T	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1004C>T	2.37:g.216995664C>T	ENSP00000375978:p.Ser335Leu					XRCC5_uc002vfz.3_Missense_Mutation_p.S221L	p.S335L	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	8	1144	+		Renal(323;0.0328)	335			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1004C>T	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385970	0.42308	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.32988	1.43;1.43	5.55	3.78	0.43462	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.269304	0.37178	N	0.002201	T	0.25791	0.0628	L	0.49350	1.555	0.35790	D	0.822307	B	0.24258	0.1	B	0.19391	0.025	T	0.20009	-1.0288	10	0.17832	T	0.49	.	11.4777	0.50308	0.0:0.8559:0.0:0.1441	.	335	P13010	XRCC5_HUMAN	L	335	ENSP00000375978:S335L;ENSP00000375977:S335L	ENSP00000375977:S335L	S	+	2	0	XRCC5	216703909	0.972000	0.33761	0.936000	0.37596	0.991000	0.79684	2.341000	0.43983	0.913000	0.36797	0.591000	0.81541	TCG		0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		T	216995664	C	T	216995664	3	4	78	1	0	0	0	0	1	0	0	0	17453	893	31	2	1038	2	XRCC5	2	216995664	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	8560697	216995664	26203709	11	5236											
SRGAP3	9901	broad.mit.edu	37	chr3	9055068	9055068	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggggaagatggcttCatgatggatgatgatggttt	8	12	18	3	0	1	4	1	3	0	1	1	6	1	6	0	7	0	3	0	7	1	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:9055068C>A	ENST00000383836.3	-	17	2498	c.2071G>T	c.(2071-2073)Gaa>Taa	p.E691*	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.E667*	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	691					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGATGGCTTCATGATGGATG	0.512			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2071-2073)Gaa>Taa		Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.							109	88	95					3																	9055068		2203	4300	6503	SO:0001587	stop_gained	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055068C>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2071G>T	3.37:g.9055068C>A	ENSP00000373347:p.Glu691*					SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	p.E691*	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	16	2747	-			691					Q8IX13|Q8IZV8	Nonsense_Mutation	SNP	ENST00000383836.3	37	c.2071G>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	42	9.360245	0.99148	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	691;667	.	ENSP00000353587:E667X	E	-	1	0	SRGAP3	9030068	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.770000	0.85390	2.688000	0.91661	0.655000	0.94253	GAA		0.512	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			A	9055068	C	A	9055068	4	1	78	1	0	0	0	0	0	1	0	0	15146	835	29	5	1252	5	SRGAP3	3	9055068	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		9055068	188967362	12	5237											
FANCD2	2177	broad.mit.edu	37	chr3	10107617	10107617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtctgctaaagagcgttCattcatgtgttctctcatat	9	16	7	9	1	5	1	3	0	2	1	6	1	5	1	0	0	2	3	0	0	3	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:10107617C>T	ENST00000419585.1	+	25	2500	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FANCD2_ENST00000287647.3_Missense_Mutation_p.S780L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S780L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S780L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	780					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGAGCGTTCATTCATGTGT	0.403			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2338-2340)tCa>tTa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							155	127	136					3																	10107617		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107617C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2339C>T	3.37:g.10107617C>T	ENSP00000398754:p.Ser780Leu					FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_Non-coding_Transcript	p.S780L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2417	+			780					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2339C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892100	0.52014	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.78	4.9	0.64082	.	0.226739	0.43416	D	0.000561	T	0.55737	0.1939	M	0.63428	1.95	0.18873	N	0.999989	D;D	0.57899	0.981;0.981	P;P	0.57324	0.818;0.818	T	0.51332	-0.8719	10	0.42905	T	0.14	.	8.1299	0.31020	0.1553:0.7631:0.0:0.0816	.	780;780	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	780	ENSP00000287647:S780L;ENSP00000373318:S780L;ENSP00000373317:S780L;ENSP00000398754:S780L	ENSP00000287647:S780L	S	+	2	0	FANCD2	10082617	0.983000	0.35010	0.031000	0.17742	0.086000	0.17979	2.948000	0.49066	2.758000	0.94735	0.460000	0.39030	TCA		0.403	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			T	10107617	C	T	10107617	3	4	78	1	0	0	0	0	1	0	0	0	5665	838	29	3	2433	3	FANCD2	3	10107617	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	1052549	10107617	187914813	13	5238											
KIAA1211	57482	broad.mit.edu	37	chr4	57189557	57189557	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagagaagccgatgcttCagagcagacactccttagat	13	7	9	12	1	1	4	1	0	0	4	2	6	2	4	3	0	3	2	3	0	2	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:57189557C>T	ENST00000504228.1	+	7	3307	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1061*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1068*			Q6ZU35	K1211_HUMAN	KIAA1211	1068										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCGATGCTTCAGAGCAGACA	0.468																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3202-3204)Cag>Tag		Homo sapiens KIAA1211 (KIAA1211), mRNA.							71	72	72					4																	57189557		1921	4135	6056	SO:0001587	stop_gained	57482							g.chr4:57189557C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3202C>T	4.37:g.57189557C>T	ENSP00000423366:p.Gln1068*					KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	p.Q1068*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3593	+	Glioma(25;0.08)|all_neural(26;0.101)		1068					Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	ENST00000504228.1	37	c.3202C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	39	7.637345	0.98403	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	.	.	.	5.71	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-42.3771	16.6361	0.85060	0.0:0.87:0.13:0.0	.	.	.	.	X	1068;1068;1061	.	ENSP00000264229:Q1068X	Q	+	1	0	KIAA1211	56884314	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	5.548000	0.67255	1.371000	0.46172	0.563000	0.77884	CAG		0.468	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57189557	C	T	57189557	4	4	78	1	0	0	0	0	0	1	0	0	8215	827	29	3	3224	3	KIAA1211	4	57189557	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		57189557	133964719	14	5239											
ALB	213	broad.mit.edu	37	chr4	74283255	74283255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttttcaggctattaGttcgttacaccaagaaagta	11	17	6	7	1	2	1	1	0	1	1	3	1	2	1	1	1	1	4	1	1	6	9	rs141626688		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:74283255G>T	ENST00000503124.1	+	9	1054	c.847G>T	c.(847-849)Gtt>Ttt	p.V283F	ALB_ENST00000295897.4_Missense_Mutation_p.V433F|ALB_ENST00000415165.2_Missense_Mutation_p.V241F|ALB_ENST00000509063.1_Missense_Mutation_p.V433F|ALB_ENST00000401494.3_Missense_Mutation_p.V318F|ALB_ENST00000505649.1_Intron			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGGCTATTAGTTCGTTACAC	0.398																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1297-1299)Gtt>Ttt		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						86	88	87					4																	74283255		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283255G>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.847G>T	4.37:g.74283255G>T	ENSP00000421027:p.Val283Phe					ALB_uc011cbe.2_Missense_Mutation_p.V112F|ALB_uc003hgw.4_Missense_Mutation_p.V241F|ALB_uc011cbf.2_Missense_Mutation_p.V323F	p.V433F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1370	+	Breast(15;0.00102)		433			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1297G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.043330|2.043330	0.36085|0.36085	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.75589	.|-0.95;-0.95;-0.95;-0.95;-0.95	5.5|5.5	0.636|0.636	0.17729|0.17729	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|0.504996	.|0.19415	.|N	.|0.114858	D|D	0.83403|0.83403	0.5247|0.5247	M|M	0.77616|0.77616	2.38|2.38	0.22127|0.22127	N|N	0.999347|0.999347	.|D;P;D;P;P	.|0.89917	.|1.0;0.877;0.997;0.877;0.877	.|D;P;D;P;P	.|0.97110	.|1.0;0.536;0.973;0.832;0.604	T|T	0.74447|0.74447	-0.3662|-0.3662	5|10	.|0.87932	.|D	.|0	-18.3895|-18.3895	9.6895|9.6895	0.40120|0.40120	0.5873:0.0:0.4127:0.0|0.5873:0.0:0.4127:0.0	.|.	.|318;241;283;433;433	.|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.|.;.;.;.;ALBU_HUMAN	I|F	277|433;241;220;283;433;318;442	.|ENSP00000295897:V433F;ENSP00000401820:V241F;ENSP00000421027:V283F;ENSP00000422784:V433F;ENSP00000384695:V318F	.|ENSP00000295897:V433F	S|V	+|+	2|1	0|0	ALB|ALB	74502119|74502119	0.008000|0.008000	0.16893|0.16893	0.033000|0.033000	0.17914|0.17914	0.565000|0.565000	0.35776|0.35776	-0.054000|-0.054000	0.11826|0.11826	-0.216000|-0.216000	0.10048|0.10048	0.650000|0.650000	0.86243|0.86243	AGT|GTT		0.398	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		T	74283255	G	T	74283255	3	4	78	1	0	0	0	0	1	0	0	0	486	1029	36	5	1339	5	ALB	4	74283255	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	17093698	74283255	116871021	15	5240											
ATP10B	23120	broad.mit.edu	37	chr5	160063304	160063304	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcaaaggtcccattcCagatgctgtgacctgagagg	9	11	11	10	0	2	3	1	2	1	2	4	4	4	3	3	2	1	2	3	2	1	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr5:160063304C>T	ENST00000327245.5	-	11	1859	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	338					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCATTCCAGATGCTGTG	0.498																																						uc003lym.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1012-1014)tGg>tAg		Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.							91	89	90					5																	160063304		1951	4153	6104	SO:0001587	stop_gained	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063304C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1013G>A	5.37:g.160063304C>T	ENSP00000313600:p.Trp338*					ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	p.W338*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1860	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	338					Q9H725	Nonsense_Mutation	SNP	ENST00000327245.5	37	c.1013G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	45	12.020944	0.99627	.	.	ENSG00000118322	ENST00000327245	.	.	.	5.18	5.18	0.71444	.	0.139342	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0809	0.89441	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	.	W	-	2	0	ATP10B	159995882	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.727000	0.61993	2.579000	0.87056	0.555000	0.69702	TGG		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160063304	C	T	160063304	4	4	78	1	0	0	0	0	0	1	0	0	1117	595	21	3	3436	3	ATP10B	5	160063304	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		160063304	20851956	16	5241											
CLIC5	53405	broad.mit.edu	37	chr6	45882089	45882089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaatctcctctggtagaGgggtgttcaggtagtcatcc	7	12	12	10	1	5	1	3	0	2	1	7	1	6	1	2	4	0	3	2	4	3	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:45882089G>C	ENST00000185206.6	-	5	1093	c.941C>G	c.(940-942)cCt>cGt	p.P314R	CLIC5_ENST00000339561.6_Missense_Mutation_p.P155R|CLIC5_ENST00000544153.1_Missense_Mutation_p.P155R|CLIC5_ENST00000486570.1_5'UTR	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	314	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTCTGGTAGAGGGGTGTTCAG	0.512																																						uc003oxv.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(940-942)cCt>cGt		Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							131	130	130					6																	45882089		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45882089G>C	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.941C>G	6.37:g.45882089G>C	ENSP00000185206:p.Pro314Arg					CLIC5_uc003oxu.3_Missense_Mutation_p.P155R|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Missense_Mutation_p.P155R	p.P314R	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			4	1047	-			314			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.941C>G	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098536	0.94197	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	D;D;D	0.93906	-3.31;-3.31;-3.31	5.84	5.84	0.93424	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.094831	0.85682	D	0.000000	D	0.96390	0.8822	M	0.89214	3.015	0.80722	D	1	P;D;D	0.55605	0.922;0.972;0.962	P;P;P	0.55713	0.573;0.632;0.782	D	0.95565	0.8633	10	0.52906	T	0.07	-13.9578	20.5276	0.99231	0.0:0.0:1.0:0.0	.	155;314;155	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	R	314;155;155	ENSP00000185206:P314R;ENSP00000344165:P155R;ENSP00000439195:P155R	ENSP00000185206:P314R	P	-	2	0	CLIC5	45990067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CCT		0.512	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			C	45882089	G	C	45882089	3	2	78	1	0	0	0	0	1	0	0	0	3529	1000	35	5	299	5	CLIC5	6	45882089	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		45882089	125232978	17	5242											
SNAP91	9892	broad.mit.edu	37	chr6	84284736	84284736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgctacataccaaaggtGcacttggtggaacgcctgct	10	10	11	10	1	0	0	0	0	0	0	0	2	0	1	2	3	6	3	2	3	4	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:84284736G>A	ENST00000439399.2	-	26	2751	c.2435C>T	c.(2434-2436)gCa>gTa	p.A812V	SNAP91_ENST00000521485.1_Missense_Mutation_p.A807V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A807V|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000428679.2_Missense_Mutation_p.A812V|SNAP91_ENST00000437520.1_Missense_Mutation_p.A505V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A812V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A782V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A812V|SNAP91_ENST00000520213.1_Missense_Mutation_p.A505V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	812	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCAAAGGTGCACTTGGTGG	0.522																																						uc021zcf.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2434-2436)gCa>gTa		Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.							46	47	47					6																	84284736		2011	4172	6183	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84284736G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2435C>T	6.37:g.84284736G>A	ENSP00000400459:p.Ala812Val					SNAP91_uc011dzd.2_Missense_Mutation_p.A310V|SNAP91_uc003pka.3_Missense_Mutation_p.A810V|SNAP91_uc011dze.2_Missense_Mutation_p.A810V|SNAP91_uc003pkc.3_Missense_Mutation_p.A782V|SNAP91_uc003pkd.3_Missense_Mutation_p.A505V|SNAP91_uc003pkb.3_Missense_Mutation_p.A721V	p.A812V	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	24	2465	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	812			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2435C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147339	0.57151	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.27256	2.24;2.22;2.22;2.24;2.25;2.26;2.25;2.22;2.26;1.68	5.15	4.26	0.50523	.	0.406919	0.24405	N	0.038818	T	0.14227	0.0344	N	0.24115	0.695	0.26925	N	0.966594	B;D;P;P;P	0.56968	0.18;0.978;0.791;0.828;0.593	B;P;B;B;B	0.50659	0.047;0.647;0.196;0.254;0.187	T	0.02683	-1.1124	10	0.51188	T	0.08	-10.6549	13.442	0.61119	0.0:0.2347:0.7653:0.0	.	688;505;782;812;810	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	V	807;812;812;807;812;505;782;812;505;153	ENSP00000429776:A807V;ENSP00000358708:A812V;ENSP00000400459:A812V;ENSP00000195649:A807V;ENSP00000412492:A812V;ENSP00000413277:A505V;ENSP00000428511:A782V;ENSP00000428215:A812V;ENSP00000428026:A505V;ENSP00000430255:A153V	ENSP00000195649:A807V	A	-	2	0	SNAP91	84341455	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	2.951000	0.49089	2.408000	0.81797	0.591000	0.81541	GCA		0.522	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			A	84284736	G	A	84284736	3	1	78	1	0	0	0	0	1	0	0	0	14833	1319	46	3	304	3	SNAP91	6	84284736	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	38402647	84284736	86830331	18	5243											
EGFR	1956	broad.mit.edu	37	chr7	55214319	55214319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcctgcatggcgccgtgCggttcagcaacaaccctgcc	9	7	10	15	3	1	0	1	0	0	0	2	0	2	0	4	2	6	3	4	2	3	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:55214319C>T	ENST00000275493.2	+	4	622	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	EGFR_ENST00000420316.2_Missense_Mutation_p.R149W|EGFR_ENST00000442591.1_Missense_Mutation_p.R149W|EGFR_ENST00000342916.3_Missense_Mutation_p.R149W|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000344576.2_Missense_Mutation_p.R149W|EGFR_ENST00000454757.2_Missense_Mutation_p.R96W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	149			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGGCGCCGTGCGGTTCAGCAA	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(445-447)Cgg>Tgg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						106	91	96					7																	55214319		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214319C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.445C>T	7.37:g.55214319C>T	ENSP00000275493:p.Arg149Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R149W|EGFR_uc003tqi.3_Missense_Mutation_p.R149W|EGFR_uc003tqj.3_Missense_Mutation_p.R149W|EGFR_uc022adm.1_Missense_Mutation_p.R149W|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.R96W	p.R149W	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	691	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		149					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.445C>T	CCDS5514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.598200|1.598200	0.28445|0.28445	.|.	.|.	ENSG00000146648|ENSG00000146648	ENST00000395504|ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	.|T;T;T;T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.6|5.6	3.68|3.68	0.42216|0.42216	.|EGF receptor, L domain (1);	.|0.278660	.|0.33591	.|N	.|0.004753	D|D	0.89312|0.89312	0.6679|0.6679	M|M	0.88906|0.88906	2.99|2.99	0.24795|0.24795	N|N	0.992738|0.992738	.|B;D;B;B	.|0.89917	.|0.169;1.0;0.262;0.329	.|B;D;B;B	.|0.74348	.|0.029;0.983;0.025;0.051	T|T	0.81402|0.81402	-0.0949|-0.0949	6|10	0.02654|0.45353	T|T	1|0.12	.|.	9.8111|9.8111	0.40824|0.40824	0.3142:0.5698:0.1161:0.0|0.3142:0.5698:0.1161:0.0	.|.	.|149;149;149;149	.|P00533;P00533-3;P00533-4;P00533-2	.|EGFR_HUMAN;.;.;.	V|W	20|149;149;149;149;149;96;96	.|ENSP00000342376:R149W;ENSP00000345973:R149W;ENSP00000413843:R149W;ENSP00000275493:R149W;ENSP00000410031:R149W;ENSP00000413354:R96W;ENSP00000395243:R96W	ENSP00000378880:A20V|ENSP00000275493:R149W	A|R	+|+	2|1	0|2	EGFR|EGFR	55181813|55181813	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.399000|0.399000	0.30720|0.30720	1.571000|1.571000	0.36450|0.36450	0.646000|0.646000	0.30693|0.30693	-0.176000|-0.176000	0.13171|0.13171	GCG|CGG		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55214319	C	T	55214319	3	4	78	1	0	0	0	0	1	0	0	0	4967	759	27	1	459	1	EGFR	7	55214319	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		55214319	103924344	19	5244											
PIK3CG	5294	broad.mit.edu	37	chr7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcggcagctcacggCgctgattggctatgacgtca	7	9	12	13	4	2	2	2	2	0	0	3	2	3	2	1	3	2	4	1	3	1	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:106508473C>T	ENST00000359195.3	+	2	777	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A156V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A156V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	156					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682																																						uc003vdv.4																			0		p.T155T(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(466-468)gCg>gTg		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							16	19	18					7																	106508473		2201	4294	6495	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508473C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.467C>T	7.37:g.106508473C>T	ENSP00000352121:p.Ala156Val					PIK3CG_uc003vdu.3_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A156V	p.A156V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	552	+			156					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.467C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.123	0.021022	0.08006	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69040	-0.37;-0.37;-0.37	5.33	4.32	0.51571	.	0.543240	0.21716	N	0.070186	T	0.45498	0.1345	N	0.14661	0.345	0.19575	N	0.999963	B	0.18310	0.027	B	0.12156	0.007	T	0.14531	-1.0469	10	0.15952	T	0.53	-13.9997	11.092	0.48121	0.3972:0.6028:0.0:0.0	.	156	P48736	PK3CG_HUMAN	V	156	ENSP00000392258:A156V;ENSP00000419260:A156V;ENSP00000352121:A156V	ENSP00000352121:A156V	A	+	2	0	PIK3CG	106295709	0.035000	0.19736	0.036000	0.18154	0.401000	0.30781	2.562000	0.45914	2.647000	0.89833	0.460000	0.39030	GCG		0.682	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106508473	C	T	106508473	3	4	78	1	0	0	0	0	1	0	0	0	11916	768	27	1	469	1	PIK3CG	7	106508473	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	51294154	106508473	52630190	20	5245											
POLR3D	661	broad.mit.edu	37	chr8	22106786	22106786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaggtgcagggcgaggaCggacaggtggtgctcatcaa	11	5	17	8	2	2	1	2	0	0	1	2	4	2	3	0	6	2	2	0	6	1	0	rs139222181		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr8:22106786C>T	ENST00000397802.4	+	6	1100	c.885C>T	c.(883-885)gaC>gaT	p.D295D	POLR3D_ENST00000306433.4_Silent_p.D295D			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	295					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGGCGAGGACGGACAGGTGG	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		19352	0		0	False		,,,				2504	0					uc003xbl.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(883-885)gaC>gaT		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.		C		6,4400	9.9+/-24.2	0,6,2197	77	67	71		885	0.5	1	8	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	POLR3D	NM_001722.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		295/399	22106786	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106786C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.885C>T	8.37:g.22106786C>T						POLR3D_uc003xbm.3_Silent_p.D295D|POLR3D_uc011kze.2_Intron	p.D295D	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	968	+			295					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.885C>T	CCDS34858.1																																																																																				0.597	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		T	22106786	C	T	22106786	2	4	78	1	0	0	0	0	0	0	0	1	12231	535	19	1		1	POLR3D	8	22106786	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08		22106786	124257236	21	5246											
MLLT3	4300	broad.mit.edu	37	chr9	20448206	20448206	+	Frame_Shift_Del	DEL	G	G	-																															agcggaggtgattcactggtGgatggccttcaagatgcagg																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:20448206delG	ENST00000380338.4	-	4	621	c.335delC	c.(334-336)ccafs	p.P113fs	MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.P110fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	113					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATTCACTGGTGGATGGCCTTC	0.448			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(334-336)ccafs		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.							144	145	145					9																	20448206		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20448206delG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.335delC	9.37:g.20448206delG	ENSP00000369695:p.Pro113fs					MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.3_Intron	p.P112fs	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	3	594	-			112			YEATS.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.335delC	CCDS6494.1																																																																																				0.448	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		-	20448206	G	-	20448206	7	5	78	1	0	1	0	1	0	0	0	0	9628	1348	47	0	1403	0	MLLT3	9	20448206	Frame_Shift_Del	DEL	G	TCGA-06-2561-01A-02D-1494-08		20448206	120765225	22	5247											
OR1B1	347169	broad.mit.edu	37	chr9	125391091	125391091	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggtggagactgctcGgcggcgaccagcagctgaag	9	5	15	12	3	0	2	0	1	0	1	2	4	1	2	2	4	3	3	2	4	1	0	rs556567774		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:125391091G>A	ENST00000304833.3	-	1	761	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGACTGCTCGGCGGCGACCA	0.557																																						uc011lyz.2																			0		p.R241C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						c.(724-726)Cga>Tga		Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.							78	73	75					9																	125391091		2203	4300	6503	SO:0001587	stop_gained	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391091G>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.724C>T	9.37:g.125391091G>A	ENSP00000303151:p.Arg242*						p.R242*	NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN			0	724	-			242					Q6IFN3	Nonsense_Mutation	SNP	ENST00000304833.3	37	c.724C>T	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	g	10.65	1.409166	0.25378	.	.	ENSG00000171484	ENST00000304833	.	.	.	4.72	-0.892	0.10570	.	0.498113	0.15228	N	0.273587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.995	5.757	0.18178	0.1691:0.0:0.2627:0.5682	.	.	.	.	X	242	.	ENSP00000303151:R242X	R	-	1	2	OR1B1	124430912	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.437000	0.21543	0.011000	0.14865	-0.148000	0.13756	CGA		0.557	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		A	125391091	G	A	125391091	4	1	78	1	0	0	0	0	0	1	0	0	10951	1124	39	2	235	2	OR1B1	9	125391091	Nonsense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	104942885	125391091	15822340	23	5248											
CBARA1	10367	broad.mit.edu	37	chr10	74234889	74234889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacatcatgctgcagtttaCgctgaaattcgaggaagttt	12	12	10	7	2	1	1	1	1	0	0	2	4	1	2	0	1	4	5	0	1	4	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:74234889C>T	ENST00000361114.5	-	8	998	c.902G>A	c.(901-903)cGt>cAt	p.R301H	MICU1_ENST00000401998.3_Missense_Mutation_p.R301H|MICU1_ENST00000398761.4_Missense_Mutation_p.R303H|MICU1_ENST00000418483.2_Missense_Mutation_p.R103H|MICU1_ENST00000398763.4_Missense_Mutation_p.R103H	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	301					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CTGCAGTTTACGCTGAAATTC	0.463																																						uc001jtb.2																			0											c.(901-903)cGt>cAt		Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							80	79	79					10																	74234889		2026	4199	6225	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74234889C>T	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.902G>A	10.37:g.74234889C>T	ENSP00000354415:p.Arg301His					MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.R103H|MICU1_uc010qjw.2_Missense_Mutation_p.R103H|MICU1_uc009xqo.2_Non-coding_Transcript	p.R301H	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN			7	1085	-			301					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.902G>A	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792021	0.50102	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80480	2.0;-1.38;2.0;0.99;0.51	5.23	4.32	0.51571	EF-hand-like domain (1);	0.055984	0.64402	D	0.000002	T	0.69726	0.3143	L	0.27053	0.805	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.08055	0.003;0.003;0.001	T	0.65886	-0.6059	10	0.37606	T	0.19	.	14.0729	0.64870	0.0:0.926:0.0:0.074	.	103;103;301	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	H	301;303;301;103;103	ENSP00000354415:R301H;ENSP00000381745:R303H;ENSP00000384068:R301H;ENSP00000402470:R103H;ENSP00000381747:R103H	ENSP00000354415:R301H	R	-	2	0	MICU1	73904895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.952000	0.63618	2.445000	0.82738	0.650000	0.86243	CGT		0.463	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		T	74234889	C	T	74234889	3	4	78	1	0	0	0	0	1	0	0	0	2696	536	19	1	548	1	CBARA1	10	74234889	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		74234889	61299858	24	5249											
PTEN	5728	broad.mit.edu	37	chr10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-																															taatgacaaggaatatctagTacttactttaacaaaaaatg																								rs146650273		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:89720799_89720802delTACT	ENST00000371953.3	+	8	2307_2310	c.950_953delTACT	c.(949-954)gtacttfs	p.VL317fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(19)|p.T319fs*1(12)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		91	Deletion - Frameshift(48)|Whole gene deletion(37)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.L318fs*2(49)|p.0?(37)|p.T319fs*1(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.V317fs*6(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.L318F(2)|p.T318fs*2(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*2(1)	endometrium(23)|central_nervous_system(18)|prostate(17)|breast(8)|skin(7)|ovary(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|thyroid(1)|large_intestine(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(949-954)gtacttfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720799_89720802delTACT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.950_953delTACT	10.37:g.89720803_89720806delTACT	ENSP00000361021:p.Val317fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.V317fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1982_1985	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	317			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.950_953delTACT	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720802	TACT	-	89720799	7	5	78	1	0	1	0	1	0	0	0	0	12738	1638	57	0	980	0	PTEN	10	89720799	Frame_Shift_Del	DEL	TACT	TCGA-06-2561-01A-02D-1494-08	15485910	89720799	45813948	25	5250											
MEN1	4221	broad.mit.edu	37	chr11	64575552	64575552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacagcaaaggccacaccGgagctgtccaatttggtgcc	11	6	10	14	1	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	2	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:64575552G>A	ENST00000337652.1	-	3	983	c.480C>T	c.(478-480)tcC>tcT	p.S160S	MEN1_ENST00000377326.3_Silent_p.S155S|MEN1_ENST00000443283.1_Silent_p.S160S|MEN1_ENST00000315422.4_Silent_p.S155S|MEN1_ENST00000394376.1_Silent_p.S160S|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377313.1_Silent_p.S160S|MEN1_ENST00000377316.2_Silent_p.S155S|MEN1_ENST00000394374.2_Silent_p.S160S|MEN1_ENST00000377321.1_Silent_p.S155S|MEN1_ENST00000312049.6_Silent_p.S155S	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	160			S -> F (in MEN1). {ECO:0000269|PubMed:10534569}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGCCACACCGGAGCTGTCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.3			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0		p.F159C(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(478-480)tcC>tcT		Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.							28	31	30					11																	64575552		2201	4297	6498	SO:0001819	synonymous_variant	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575552G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.480C>T	11.37:g.64575552G>A						MEN1_uc001obk.3_Silent_p.S160S|MEN1_uc001obl.3_Silent_p.S155S|MEN1_uc001obm.3_Silent_p.S155S|MEN1_uc001obn.3_Silent_p.S160S|MEN1_uc001obo.3_Silent_p.S160S|MEN1_uc001obq.3_Silent_p.S160S|MEN1_uc001obr.3_Silent_p.S160S	p.S160S	NM_130800	NP_570716	O00255	MEN1_HUMAN			2	553	-			160		S -> F (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.480C>T	CCDS8083.1																																																																																				0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			A	64575552	G	A	64575552	2	1	78	1	0	0	0	0	0	0	0	1	9472	1103	39	2		2	MEN1	11	64575552	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08		64575552	70430964	26	5251											
MTNR1B	4544	broad.mit.edu	37	chr11	92715286	92715286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctacttactggcttatttCaacagctgcctgaatgccat	10	13	7	11	0	1	1	1	1	0	0	1	1	1	1	2	1	7	3	2	1	5	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:92715286C>T	ENST00000257068.2	+	2	903	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	299					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGCTTATTTCAACAGCTGCC	0.522																																						uc001pdk.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(895-897)ttC>ttT		Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	Ramelteon(DB00980)						190	197	195					11																	92715286		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715286C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.897C>T	11.37:g.92715286C>T							p.F299F	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	1000	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	299						Silent	SNP	ENST00000257068.2	37	c.897C>T	CCDS8290.1																																																																																				0.522	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			T	92715286	C	T	92715286	2	4	78	1	0	0	0	0	0	0	0	1	9952	825	29	3		3	MTNR1B	11	92715286	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08	28139734	92715286	42291230	27	5252											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		1	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		T	25398284	C	T	25398284	3	4	78	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		25398284	108453611	28	5253											
ADCY6	112	broad.mit.edu	37	chr12	49169145	49169145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgcacatggtccttccGcagctgatcaatgctgcggg	6	8	13	14	4	1	1	1	1	0	0	3	1	3	1	3	3	3	4	3	3	1	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:49169145G>A	ENST00000307885.4	-	10	2615	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R641W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R641W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	641					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTCCTTCCGCAGCTGATCA	0.597																																						uc001rsh.4																			0		p.R641L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1921-1923)Cgg>Tgg		Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.							81	70	74					12																	49169145		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169145G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1921C>T	12.37:g.49169145G>A	ENSP00000311405:p.Arg641Trp					ADCY6_uc001rsi.4_Missense_Mutation_p.R641W|ADCY6_uc001rsj.4_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	p.R641W	NM_015270	NP_056085	O43306	ADCY6_HUMAN			9	2581	-			641					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1921C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443122	0.83993	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80738	-1.41;-1.41;-1.41	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91031	0.4864	10	0.87932	D	0	.	17.614	0.88063	0.0:0.0:1.0:0.0	.	641;641	O43306-2;O43306	.;ADCY6_HUMAN	W	641	ENSP00000350536:R641W;ENSP00000446730:R641W;ENSP00000311405:R641W	ENSP00000311405:R641W	R	-	1	2	ADCY6	47455412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.148000	0.64857	2.533000	0.85409	0.557000	0.71058	CGG		0.597	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		A	49169145	G	A	49169145	3	1	78	1	0	0	0	0	1	0	0	0	298	1086	38	1	1633	1	ADCY6	12	49169145	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	23770861	49169145	84682750	29	5254											
SLC5A8	160728	broad.mit.edu	37	chr12	101555815	101555815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttccaacagtgctgaagtAcagatatgataaagaatacc	17	9	8	7	0	0	4	0	2	0	2	1	4	1	4	2	0	4	3	2	0	8	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:101555815A>G	ENST00000536262.2	-	13	2125	c.1567T>C	c.(1567-1569)Tac>Cac	p.Y523H		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGAAGTACAGATATGAT	0.358																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1567-1569)Tac>Cac		Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.							187	189	188					12																	101555815		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101555815A>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1567T>C	12.37:g.101555815A>G	ENSP00000445340:p.Tyr523His						p.Y523H	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			12	1957	-			523						Missense_Mutation	SNP	ENST00000536262.2	37	c.1567T>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883634	0.72410	.	.	ENSG00000256870	ENST00000536262	T	0.72725	-0.68	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.76328	2.33	0.80722	D	1	P	0.46621	0.881	P	0.44518	0.452	T	0.77360	-0.2617	10	0.52906	T	0.07	.	14.5812	0.68292	1.0:0.0:0.0:0.0	.	523	Q8N695	SC5A8_HUMAN	H	523	ENSP00000445340:Y523H	ENSP00000445340:Y523H	Y	-	1	0	SLC5A8	100079946	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.782000	0.68973	2.098000	0.63641	0.477000	0.44152	TAC		0.358	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		G	101555815	A	G	101555815	3	3	78	1	0	0	0	0	1	0	0	0	14671	391	14	4	277	4	SLC5A8	12	101555815	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	52386670	101555815	32296080	30	5255											
DYX1C1	161582	broad.mit.edu	37	chr15	55790519	55790520	+	Frame_Shift_Del	DEL	AA	AA	-																															cagctgtaatcgctaacctgAagaggcattccggtagcaac																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:55790519_55790520delAA	ENST00000321149.3	-	2	375_376	c.8_9delTT	c.(7-9)cttfs	p.L3fs	DYX1C1_ENST00000457155.2_Frame_Shift_Del_p.L3fs|DYX1C1_ENST00000348518.3_Frame_Shift_Del_p.L3fs|DYX1C1_ENST00000380679.1_Frame_Shift_Del_p.L3fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Frame_Shift_Del_p.L3fs	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	3	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CGCTAACCTGAAGAGGCATTCC	0.599																																						uc002adc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(7-9)cttfs		Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55790519_55790520delAA		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.8_9delTT	15.37:g.55790519_55790520delAA	ENSP00000323275:p.Leu3fs					CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.L3fs	p.L3fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	1	376_377	-			3			CS.		Q6P5Y9|Q8N1S6	Frame_Shift_Del	DEL	ENST00000321149.3	37	c.8_9delTT	CCDS10154.1																																																																																				0.599	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		-	55790520	AA	-	55790519	7	5	78	1	0	1	0	1	0	0	0	0	4862	233	9	0	1392	0	DYX1C1	15	55790519	Frame_Shift_Del	DEL	AA	TCGA-06-2561-01A-02D-1494-08		55790519	46740873	31	5256											
GOLGA6A	342096	broad.mit.edu	37	chr15	74365151	74365151	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtggctggcagcttctAggtgctcctaaggggacggg	5	10	17	9	1	2	0	0	0	2	0	3	1	3	1	1	7	2	4	1	7	2	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:74365151A>C	ENST00000290438.3	-	13	1473	c.1433T>G	c.(1432-1434)cTa>cGa	p.L478R	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	478						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCAGCTTCTAGGTGCTCCTA	0.612																																						uc002axa.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(1432-1434)cTa>cGa		Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.							87	109	101					15																	74365151		2167	4297	6464	SO:0001583	missense	342096							g.chr15:74365151A>C	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1433T>G	15.37:g.74365151A>C	ENSP00000290438:p.Leu478Arg					DQ582073_uc021sqc.1_5'Flank|DQ596164_uc021sqd.1_5'Flank	p.L478R	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			12	1474	-			478					A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.1433T>G	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	a	13.66	2.302386	0.40694	.	.	ENSG00000159289	ENST00000290438	T	0.39997	1.05	1.52	1.52	0.23074	.	.	.	.	.	T	0.48822	0.1521	M	0.75085	2.285	0.28724	N	0.902869	P	0.45044	0.849	P	0.50791	0.65	T	0.42965	-0.9420	9	0.46703	T	0.11	.	5.2399	0.15465	1.0:0.0:0.0:0.0	.	478	Q9NYA3	GOG6A_HUMAN	R	478	ENSP00000290438:L478R	ENSP00000290438:L478R	L	-	2	0	GOLGA6A	72152204	1.000000	0.71417	0.221000	0.23827	0.039000	0.13416	5.284000	0.65627	0.972000	0.38314	0.128000	0.15822	CTA		0.612	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		C	74365151	A	C	74365151	3	2	78	1	0	0	0	0	1	0	0	0	6557	420	15	5	672	5	GOLGA6A	15	74365151	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	18574632	74365151	28166241	32	5257											
GOLGA6D	653643	broad.mit.edu	37	chr15	75580652	75580652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccttacagcatattcaaGaattggagcgggctctctgt	10	12	9	10	1	2	1	1	0	1	1	4	2	3	2	1	2	3	2	1	2	4	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:75580652G>A	ENST00000434739.3	+	7	552	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	171						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCATATTCAAGAATTGGAGCG	0.557																																						uc010uma.2																			0				kidney(1)|lung(1)	2						c.(511-513)Gaa>Aaa		Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.							23	22	23					15																	75580652		683	1581	2264	SO:0001583	missense	653643							g.chr15:75580652G>A		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.511G>A	15.37:g.75580652G>A	ENSP00000391085:p.Glu171Lys						p.E171K	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN			6	546	+			171						Missense_Mutation	SNP	ENST00000434739.3	37	c.511G>A	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	-	17.48	3.399152	0.62177	.	.	ENSG00000140478	ENST00000434739	T	0.44482	0.92	1.57	1.57	0.23409	.	.	.	.	.	T	0.62208	0.2409	M	0.83603	2.65	0.45261	D	0.998265	D	0.60575	0.988	D	0.75484	0.986	T	0.65894	-0.6057	9	0.72032	D	0.01	.	9.1585	0.37007	0.0:0.0:1.0:0.0	.	171	P0CG33	GOG6D_HUMAN	K	171	ENSP00000391085:E171K	ENSP00000391085:E171K	E	+	1	0	GOLGA6D	73367705	1.000000	0.71417	0.179000	0.23059	0.170000	0.22686	5.501000	0.66950	1.194000	0.43101	0.186000	0.17326	GAA		0.557	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		A	75580652	G	A	75580652	3	1	78	1	0	0	0	0	1	0	0	0	6560	943	33	3	537	3	GOLGA6D	15	75580652	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	1215501	75580652	26950740	33	5258											
TTLL13	440307	broad.mit.edu	37	chr15	90802040	90802040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtaaaggatgcacttctCtgtgatgctatgacccttgt	10	13	10	8	0	1	2	0	2	1	0	2	4	1	3	1	1	2	3	1	1	4	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:90802040C>T	ENST00000339615.5	+	10	1523	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	TTLL13_ENST00000438251.1_Silent_p.L411L|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATGCACTTCTCTGTGATGCTA	0.512																																						uc002bpd.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16						c.(1231-1233)ctC>ctT		Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.							160	126	138					15																	90802040		2199	4298	6497	SO:0001819	synonymous_variant	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90802040C>T	BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1233C>T	15.37:g.90802040C>T						TTLL13_uc002bpe.1_Non-coding_Transcript	p.L411L	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		9	1521	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		411			TTL.			Silent	SNP	ENST00000339615.5	37	c.1233C>T	CCDS32328.1																																																																																				0.512	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964		T	90802040	C	T	90802040	2	4	78	1	0	0	0	0	0	0	0	1	16723	900	32	3		3	TTLL13	15	90802040	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08	15221388	90802040	11729352	34	5259											
DNAH3	55567	broad.mit.edu	37	chr16	21145587	21145587	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggacttcttactctgcaaAccacagttctttcagcctga	10	12	7	12	0	4	1	1	1	3	0	4	2	4	2	2	1	4	2	2	1	2	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr16:21145587A>G	ENST00000261383.3	-	7	1074	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	DNAH3_ENST00000415178.1_Missense_Mutation_p.F359L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	359	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACTCTGCAAACCACAGTTCT	0.527																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1075-1077)Ttt>Ctt		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							96	89	92					16																	21145587		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145587A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1075T>C	16.37:g.21145587A>G	ENSP00000261383:p.Phe359Leu					DNAH3_uc002die.2_Missense_Mutation_p.F330L	p.F359L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	6	1075	-			359			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1075T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257620	0.22965	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21543	2.0;2.16	5.96	5.96	0.96718	.	0.261961	0.33772	N	0.004576	T	0.19046	0.0457	L	0.49126	1.545	0.31586	N	0.654505	B;B	0.22346	0.0;0.068	B;B	0.18561	0.001;0.022	T	0.14337	-1.0476	10	0.20046	T	0.44	.	10.6413	0.45594	0.8568:0.0:0.0:0.1432	.	359;330	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	L	359;359;330	ENSP00000261383:F359L;ENSP00000394245:F359L	ENSP00000261383:F359L	F	-	1	0	DNAH3	21053088	1.000000	0.71417	0.997000	0.53966	0.674000	0.39518	3.093000	0.50217	2.285000	0.76669	0.533000	0.62120	TTT		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	21145587	A	G	21145587	3	3	78	1	0	0	0	0	1	0	0	0	4603	43	2	4	11498	4	DNAH3	16	21145587	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08		21145587	69209166	35	5260											
SPAG5	10615	broad.mit.edu	37	chr17	26911445	26911445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtatgctgactctgtaGctcttttagctggctgtcca	6	15	11	9	0	2	1	0	1	2	0	3	1	3	1	1	2	3	6	1	2	3	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:26911445G>C	ENST00000321765.5	-	12	2547	c.2215C>G	c.(2215-2217)Cta>Gta	p.L739V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	739	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGACTCTGTAGCTCTTTTAGC	0.512																																						uc002hbq.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2215-2217)Cta>Gta		Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.							197	183	188					17																	26911445		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26911445G>C	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2215C>G	17.37:g.26911445G>C	ENSP00000323300:p.Leu739Val					SPAG5_uc010waq.1_Intron	p.L739V	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			11	2307	-	Lung NSC(42;0.00431)		739			Gln-rich.		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2215C>G	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011321	0.75046	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	T	0.21191	2.02	6.02	4.02	0.46733	.	0.137552	0.33346	N	0.005003	T	0.11922	0.0290	N	0.24115	0.695	0.24229	N	0.995401	P	0.35628	0.513	B	0.29524	0.103	T	0.15263	-1.0443	10	0.42905	T	0.14	-2.2004	8.521	0.33275	0.0813:0.1533:0.7654:0.0	.	739	Q96R06	SPAG5_HUMAN	V	739;236	ENSP00000444223:L236V	ENSP00000323300:L739V	L	-	1	2	SPAG5	23935572	0.975000	0.34042	0.999000	0.59377	0.995000	0.86356	1.316000	0.33620	0.864000	0.35578	0.650000	0.86243	CTA		0.512	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26911445	G	C	26911445	3	2	78	1	0	0	0	0	1	0	0	0	14981	962	34	5	1418	5	SPAG5	17	26911445	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		26911445	54283765	36	5261											
HNF1B	6928	broad.mit.edu	37	chr17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggctgtggatattcGtcaaggtgctgactgggggc	7	9	19	6	1	1	2	1	1	0	1	2	4	1	3	0	6	1	2	0	6	2	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:36065013G>A	ENST00000225893.4	-	6	1611	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_ENST00000427275.2_Missense_Mutation_p.T391M|HNF1B_ENST00000561193.1_Missense_Mutation_p.T391M|HNF1B_ENST00000560016.1_Missense_Mutation_p.T417M	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	417					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1249-1251)aCg>aTg		Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.							167	157	161					17																	36065013		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36065013G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1250C>T	17.37:g.36065013G>A	ENSP00000225893:p.Thr417Met					HNF1B_uc021tvu.1_Missense_Mutation_p.T187M|HNF1B_uc010wdi.2_Missense_Mutation_p.T391M|HNF1B_uc021tvv.1_Missense_Mutation_p.T417M|HNF1B_uc021tvw.1_Missense_Mutation_p.T391M	p.T417M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1471	-		Breast(25;0.00765)|Ovarian(249;0.15)	417					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1250C>T	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329005	0.81690	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000539087	D;D	0.98807	-5.15;-5.15	5.6	4.6	0.57074	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.098510	0.64402	D	0.000001	D	0.99026	0.9667	M	0.80746	2.51	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99624	1.0984	10	0.87932	D	0	-28.7033	14.5755	0.68243	0.0:0.0:0.8528:0.1472	.	391;417	E0YMJ6;P35680	.;HNF1B_HUMAN	M	417;391;305	ENSP00000225893:T417M;ENSP00000412212:T391M	ENSP00000225893:T417M	T	-	2	0	HNF1B	33139126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.296000	0.44742	0.655000	0.94253	ACG		0.478	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		A	36065013	G	A	36065013	3	1	78	1	0	0	0	0	1	0	0	0	7252	1145	40	1	439	1	HNF1B	17	36065013	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	9153568	36065013	45130197	37	5262											
FBXL20	84961	broad.mit.edu	37	chr17	37431297	37431297	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcagccagaggcacaaagGgattgtaacttatggcaccc	13	6	12	10	0	0	1	0	0	0	1	0	3	0	2	2	3	3	4	2	3	3	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:37431297G>T	ENST00000264658.6	-	10	1013	c.753C>A	c.(751-753)tcC>tcA	p.S251S	FBXL20_ENST00000394294.3_Silent_p.S219S|FBXL20_ENST00000583610.1_Silent_p.S251S|FBXL20_ENST00000577399.1_Silent_p.S253S	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	251					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGGCACAAAGGGATTGTAACT	0.403																																						uc002hrt.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(751-753)tcC>tcA		Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.							127	116	120					17																	37431297		2203	4300	6503	SO:0001819	synonymous_variant	84961					cytoplasm		g.chr17:37431297G>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.753C>A	17.37:g.37431297G>T						FBXL20_uc010cvu.3_Silent_p.S219S	p.S251S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		9	1007	-			251					A8K729|Q38J52	Silent	SNP	ENST00000264658.6	37	c.753C>A	CCDS32640.1																																																																																				0.403	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		T	37431297	G	T	37431297	2	4	78	1	0	0	0	0	0	0	0	1	5717	1219	43	5		5	FBXL20	17	37431297	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08	1366284	37431297	43763913	38	5263											
POTEC	388468	broad.mit.edu	37	chr18	14542851	14542851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagtgacagcaccacttgcCcatcttgctcctgagcgtct	7	10	9	15	1	2	2	0	2	2	0	3	2	3	2	3	0	4	3	3	0	0	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:14542851C>T	ENST00000358970.5	-	1	294	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	99										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACCACTTGCCCATCTTGCTC	0.622																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(295-297)Ggc>Agc		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							39	45	43					18																	14542851		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542851C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.295G>A	18.37:g.14542851C>T	ENSP00000351856:p.Gly99Ser					POTEC_uc010xaj.2_Non-coding_Transcript	p.G99S	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			0	749	-			99						Missense_Mutation	SNP	ENST00000358970.5	37	c.295G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	8.612	0.889322	0.17540	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.36157	1.27	0.399	0.399	0.16325	.	.	.	.	.	T	0.26919	0.0659	L	0.39898	1.24	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.28235	-1.0050	8	0.62326	D	0.03	.	.	.	.	.	99	B2RU33	POTEC_HUMAN	S	99	ENSP00000351856:G99S	ENSP00000351856:G99S	G	-	1	0	POTEC	14532851	0.000000	0.05858	0.010000	0.14722	0.029000	0.11900	-0.174000	0.09839	0.448000	0.26722	0.175000	0.17021	GGC		0.622	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		T	14542851	C	T	14542851	3	4	78	1	0	0	0	0	1	0	0	0	12262	623	22	3	1377	3	POTEC	18	14542851	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		14542851	63534397	39	5264											
KCNG2	26251	broad.mit.edu	37	chr18	77659449	77659449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtgcacctggccgagcGcgagctgggcgcgcgccgcg	4	4	18	15	8	0	0	0	0	0	0	0	2	0	0	3	3	3	2	3	3	0	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:77659449G>A	ENST00000316249.3	+	2	1034	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	345					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGGCCGAGCGCGAGCTGGGC	0.716																																						uc010xfl.2																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1033-1035)cGc>cAc		Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.							12	13	13					18																	77659449		2183	4267	6450	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659449G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1034G>A	18.37:g.77659449G>A	ENSP00000315654:p.Arg345His						p.R345H	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	1034	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	345						Missense_Mutation	SNP	ENST00000316249.3	37	c.1034G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091040	0.36855	.	.	ENSG00000178342	ENST00000316249	D	0.97665	-4.48	3.35	2.47	0.30058	Ion transport (1);	0.119987	0.53938	U	0.000042	D	0.93651	0.7972	N	0.12746	0.255	0.26813	N	0.968951	D	0.59357	0.985	P	0.53760	0.734	D	0.88412	0.3022	10	0.72032	D	0.01	.	7.2274	0.26022	0.2079:0.0:0.792:0.0	.	345	Q9UJ96	KCNG2_HUMAN	H	345	ENSP00000315654:R345H	ENSP00000315654:R345H	R	+	2	0	KCNG2	75760437	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.676000	0.74498	0.614000	0.30107	0.411000	0.27672	CGC		0.716	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		A	77659449	G	A	77659449	3	1	78	1	0	0	0	0	1	0	0	0	8028	1087	38	1	1040	1	KCNG2	18	77659449	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	63116598	77659449	417799	40	5265											
ITGB1BP3	27231	broad.mit.edu	37	chr19	3942189	3942189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagccccctccccggctcGcccagccaggacacagggac	8	3	10	20	2	1	0	1	0	0	0	3	2	2	2	6	3	2	1	6	3	0	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:3942189G>A	ENST00000168977.2	+	8	901	c.611G>A	c.(610-612)cGc>cAc	p.R204H	NMRK2_ENST00000593949.1_Missense_Mutation_p.R209H|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	204					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TCCCCGGCTCGCCCAGCCAGG	0.647																																						uc010xia.2																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10						c.(625-627)cGc>cAc		Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.							26	26	26					19																	3942189		2202	4299	6501	SO:0001583	missense	27231				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	g.chr19:3942189G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"muscle-specific beta 1 integrin binding protein", "nicotinamide riboside kinase 2"	608705	"integrin beta 1 binding protein 3"	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.611G>A	19.37:g.3942189G>A	ENSP00000168977:p.Arg204His					ITGB1BP3_uc002lyz.4_Missense_Mutation_p.R204H	p.R209H	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	6	840	+		Hepatocellular(1079;0.137)	204					B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.626G>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	6.395	0.441046	0.12164	.	.	ENSG00000077009	ENST00000168977;ENST00000395034	T	0.46451	0.87	1.08	-0.00705	0.14011	.	.	.	.	.	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16988	-1.0384	9	0.51188	T	0.08	.	3.1538	0.06497	0.3154:0.0:0.6846:0.0	.	209;204	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	H	204;160	ENSP00000168977:R204H	ENSP00000168977:R204H	R	+	2	0	ITGB1BP3	3893189	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.024000	0.12435	0.046000	0.15833	0.485000	0.47835	CGC		0.647	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		A	3942189	G	A	3942189	3	1	78	1	0	0	0	0	1	0	0	0	7893	1087	38	1	637	1	ITGB1BP3	19	3942189	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		3942189	55186794	41	5266											
CCDC105	126402	broad.mit.edu	37	chr19	15132177	15132177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcagcgtgcgccttggCgctaaacgaagccaagcggt	9	8	13	11	5	0	0	0	0	0	0	0	1	0	0	2	2	6	2	2	2	4	3	rs375778626		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:15132177C>T	ENST00000292574.3	+	4	969	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	296						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TGCGCCTTGGCGCTAAACGAA	0.597																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(886-888)gCg>gTg		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							58	44	49					19																	15132177		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132177C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.887C>T	19.37:g.15132177C>T	ENSP00000292574:p.Ala296Val						p.A296V	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			3	986	+			296					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.887C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	c	12.30	1.897302	0.33535	.	.	ENSG00000160994	ENST00000292574	T	0.02395	4.31	3.71	3.71	0.42584	.	0.097833	0.38605	N	0.001622	T	0.11750	0.0286	M	0.69823	2.125	0.09310	N	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.02546	-1.1143	10	0.37606	T	0.19	-19.9905	11.2687	0.49124	0.0:1.0:0.0:0.0	.	296	Q8IYK2	CC105_HUMAN	V	296	ENSP00000292574:A296V	ENSP00000292574:A296V	A	+	2	0	CCDC105	14993177	0.014000	0.17966	0.128000	0.21923	0.037000	0.13140	0.592000	0.23984	2.091000	0.63221	0.639000	0.83563	GCG		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		T	15132177	C	T	15132177	3	4	78	1	0	0	0	0	1	0	0	0	2740	768	27	1	901	1	CCDC105	19	15132177	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	11189988	15132177	43996806	42	5267											
ZNF208	7757	broad.mit.edu	37	chr19	22155492	22155492	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttaaaagctttgccacAttcttcacatttgtagggtt	9	16	8	8	1	2	0	1	0	1	0	3	0	2	0	1	2	2	4	1	2	3	7			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:22155492A>C	ENST00000397126.4	-	4	2492	c.2344T>G	c.(2344-2346)Tgt>Ggt	p.C782G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	782					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTTTGCCACATTCTTCACAT	0.358																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2344-2346)Tgt>Ggt		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							43	49	47					19																	22155492		2088	4234	6322	SO:0001583	missense	7757							g.chr19:22155492A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2344T>G	19.37:g.22155492A>C	ENSP00000380315:p.Cys782Gly					ZNF208_uc002nqo.1_Intron	p.C782G	NM_007153	NP_009084					3	2493	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2344T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.321198	0.23994	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85861	-2.04	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90885	0.7136	.	.	.	0.36991	D	0.894764	D	0.76494	0.999	D	0.91635	0.999	D	0.91291	0.5059	8	0.87932	D	0	.	8.9508	0.35788	1.0:0.0:0.0:0.0	.	682	O43345	ZN208_HUMAN	G	782;682	ENSP00000380315:C782G	ENSP00000380315:C782G	C	-	1	0	ZNF208	21947332	1.000000	0.71417	0.527000	0.27925	0.230000	0.25150	6.399000	0.73248	0.705000	0.31890	0.232000	0.17820	TGT		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22155492	A	C	22155492	3	2	78	1	0	0	0	0	1	0	0	0	17763	217	8	5	1502	5	ZNF208	19	22155492	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	7023315	22155492	36973491	43	5268											
LIPI	149998	broad.mit.edu	37	chr21	15561699	15561699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatctctgaaggaatcctTtacacttagctgagagaatt	14	13	7	7	0	1	3	0	2	1	1	3	5	2	4	1	1	2	1	1	1	7	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr21:15561699T>C	ENST00000536861.1	-	2	87	c.88A>G	c.(88-90)Aag>Gag	p.K30E	LIPI_ENST00000344577.2_Missense_Mutation_p.K51E			Q6XZB0	LIPI_HUMAN	lipase, member I	30					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAGGAATCCTTTACACTTAGC	0.358																																						uc002yjm.3																			0		p.K51N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(151-153)Aag>Gag		Homo sapiens lipase, member I (LIPI), mRNA.							84	88	87					21																	15561699		2203	4299	6502	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561699T>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.88A>G	21.37:g.15561699T>C	ENSP00000440381:p.Lys30Glu					LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.K30E|LIPI_uc021whh.1_Missense_Mutation_p.K30E|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.K30E|LIPI_uc021whe.1_Missense_Mutation_p.K30E|LIPI_uc021whf.1_Missense_Mutation_p.K30E	p.K51E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	1	161	-			30					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.151A>G		.	.	.	.	.	.	.	.	.	.	T	13.52	2.263067	0.39995	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90620	-2.7;-2.7	5.3	2.83	0.33086	.	2.277640	0.01626	N	0.023285	D	0.83797	0.5332	L	0.43152	1.355	0.09310	N	1	P	0.35944	0.529	B	0.36922	0.236	T	0.73235	-0.4047	10	0.02654	T	1	.	0.4267	0.00464	0.2911:0.1407:0.1616:0.4066	.	51	Q6XZB0-2	.	E	51;30	ENSP00000343331:K51E;ENSP00000440381:K30E	ENSP00000343331:K51E	K	-	1	0	LIPI	14483570	0.010000	0.17322	0.987000	0.45799	0.692000	0.40212	-0.001000	0.12947	2.139000	0.66308	0.533000	0.62120	AAG		0.358	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		C	15561699	T	C	15561699	3	2	78	1	0	0	0	0	1	0	0	0	8825	1850	64	4	1330	4	LIPI	21	15561699	Missense_Mutation	SNP	T	TCGA-06-2561-01A-02D-1494-08		15561699	32568196	44	5269											
NUDT11	55190	broad.mit.edu	37	chrX	51239120	51239120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcggaccgccgcaccGcccggctcctcctcgggctc	3	6	10	22	6	1	0	0	0	1	0	6	1	3	1	7	3	0	3	7	3	0	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:51239120G>A	ENST00000375992.3	-	1	328	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	59	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCGCCGCACCGCCCGGCTCCT	0.662										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	uc010njt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(175-177)ggC>ggT		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							26	34	31					X																	51239120		2191	4284	6475	SO:0001819	synonymous_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239120G>A	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.177C>T	X.37:g.51239120G>A		HNSCC(48;0.14)					p.G59G	NM_018159	NP_060629	Q96G61	NUD11_HUMAN			0	340	-	Ovarian(276;0.236)		59			Nudix hydrolase.		Q9NVN0	Silent	SNP	ENST00000375992.3	37	c.177C>T	CCDS43952.1																																																																																				0.662	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			A	51239120	G	A	51239120	2	1	78	1	0	0	0	0	0	0	0	1	10727	1074	38	1		1	NUDT11	23	51239120	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08		51239120	104031440	45	5270											
STAG2	10735	broad.mit.edu	37	chrX	123197901	123197901	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagattttctgcaagaGgtatatattataactattac	14	16	6	5	0	1	3	0	1	1	2	1	3	1	3	0	1	3	2	0	1	9	10			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:123197901G>C	ENST00000371160.1	+	20	2315	c.2025G>C	c.(2023-2025)gaG>gaC	p.E675D	STAG2_ENST00000371157.3_Splice_Site_p.E675D|STAG2_ENST00000371144.3_Splice_Site_p.E675D|STAG2_ENST00000371145.3_Splice_Site_p.E675D|STAG2_ENST00000354548.5_Splice_Site_p.E606D|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site_p.E675D	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	675					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCTGCAAGAGGTATATATTA	0.358																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e20+1		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							21	19	20					X																	123197901		2192	4288	6480	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197901G>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2025+1G>C	X.37:g.123197901G>C						STAG2_uc004etz.4_Splice_Site_p.E675_splice|STAG2_uc004eub.3_Splice_Site_p.E675_splice|STAG2_uc004euc.3_Splice_Site_p.E675_splice|STAG2_uc004eud.3_Splice_Site_p.E675_splice|STAG2_uc004eue.3_Splice_Site_p.E675_splice	p.E675_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			20	2429	+			675					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2025_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709047	0.68615	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.34275	1.76;1.38;1.37;1.37;1.76;1.37	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.73598	2.24	0.80722	D	1	D;B	0.62365	0.991;0.321	D;B	0.65323	0.934;0.241	T	0.54255	-0.8321	10	0.19147	T	0.46	-9.5903	18.4448	0.90680	0.0:0.0:1.0:0.0	.	675;675	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	D	675;606;675;675;675;675	ENSP00000218089:E675D;ENSP00000346555:E606D;ENSP00000360202:E675D;ENSP00000360199:E675D;ENSP00000360187:E675D;ENSP00000360186:E675D	ENSP00000218089:E675D	E	+	3	2	STAG2	123025582	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.978000	0.88095	2.296000	0.77279	0.600000	0.82982	GAG		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Missense_Mutation	C	123197901	G	C	123197901	5	2	78	1	0	0	0	0	0	0	1	0	15242	1014	35	5	2095	5	STAG2	23	123197901	Splice_Site	SNP	G	TCGA-06-2561-01A-02D-1494-08	71958781	123197901	32072659	46	5271											
DDX26B	203522	broad.mit.edu	37	chrX	134679466	134679466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttgttaaatctcaataGattaatatctggaatagaca	16	15	6	4	0	2	3	1	1	2	2	3	4	2	4	0	1	0	1	0	1	8	6			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134679466G>A	ENST00000370752.4	+	3	642	c.308G>A	c.(307-309)aGa>aAa	p.R103K	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	103	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCAATAGATTAATATCT	0.353																																						uc004eyw.4																			0				large_intestine(1)|lung(8)	9						c.(307-309)aGa>aAa		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.							64	68	67					X																	134679466		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134679466G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.308G>A	X.37:g.134679466G>A	ENSP00000359788:p.Arg103Lys						p.R103K	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			2	671	+	Acute lymphoblastic leukemia(192;6.56e-05)		103			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.308G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668698	0.88348	.	.	ENSG00000165359	ENST00000370752	T	0.12569	2.67	5.62	5.62	0.85841	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.92649	3.33	0.80722	D	1	D	0.59767	0.986	P	0.61592	0.891	T	0.59648	-0.7415	10	0.87932	D	0	-17.7431	17.523	0.87792	0.0:0.0:1.0:0.0	.	103	Q5JSJ4	DX26B_HUMAN	K	103	ENSP00000359788:R103K	ENSP00000359788:R103K	R	+	2	0	DDX26B	134507132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.353000	0.79882	0.600000	0.82982	AGA		0.353	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		A	134679466	G	A	134679466	3	1	78	1	0	0	0	0	1	0	0	0	4353	942	33	3	318	3	DDX26B	23	134679466	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	11481565	134679466	20591094	47	5272											
SAGE1	55511	broad.mit.edu	37	chrX	134993470	134993470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggagctggtatttcaTgcagaagtaccagggatctg	10	11	13	7	0	3	1	2	0	1	1	3	3	3	3	1	3	3	4	1	3	3	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134993470T>A	ENST00000370709.3	+	16	2125	c.2125T>A	c.(2125-2127)Tgc>Agc	p.C709S	SAGE1_ENST00000537770.1_Missense_Mutation_p.C333S|SAGE1_ENST00000324447.3_Missense_Mutation_p.C709S|SAGE1_ENST00000535938.1_Missense_Mutation_p.C709S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	709						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTCATGCAGAAGTAC	0.453																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2125-2127)Tgc>Agc		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							182	134	150					X																	134993470		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993470T>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2125T>A	X.37:g.134993470T>A	ENSP00000359743:p.Cys709Ser					SAGE1_uc010nry.1_Missense_Mutation_p.C678S|SAGE1_uc011mvv.2_Missense_Mutation_p.C333S	p.C709S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			16	2292	+	Acute lymphoblastic leukemia(192;0.000127)		709					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2125T>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.706235	0.00719	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.31510	1.49;1.49;1.58;1.49	1.4	-1.94	0.07571	.	22.188100	0.01775	N	0.031417	T	0.10723	0.0262	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.21245	-1.0251	10	0.06494	T	0.89	.	4.6818	0.12738	0.0:0.4255:0.0:0.5745	.	333;709	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	709;709;333;709	ENSP00000323191:C709S;ENSP00000445959:C709S;ENSP00000438276:C333S;ENSP00000359743:C709S	ENSP00000323191:C709S	C	+	1	0	SAGE1	134821136	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	-0.249000	0.08842	-0.709000	0.05008	0.150000	0.16122	TGC		0.453	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		A	134993470	T	A	134993470	3	1	78	1	0	0	0	0	1	0	0	0	13809	1464	51	5	2187	5	SAGE1	23	134993470	Missense_Mutation	SNP	T	TCGA-06-2561-01A-02D-1494-08	314004	134993470	20277090	48	5273											
FBLIM1	54751	broad.mit.edu	37	chr1	16093947	16093947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaccccctccaccGccccctccagtgcttctgcc	3	8	4	26	1	1	0	0	0	1	0	5	0	5	0	10	0	2	1	10	0	0	1	rs138682032		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:16093947G>A	ENST00000375766.3	+	4	967	c.327G>A	c.(325-327)ccG>ccA	p.P109P	FBLIM1_ENST00000441801.2_Silent_p.P109P|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Silent_p.P109P|FBLIM1_ENST00000400773.1_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	109	Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCCCTCCACCGCCCCCTCCAG	0.657																																						uc001axd.1																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(325-327)ccG>ccA		Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.		A	,,	1,4405		0,1,2202	20	19	20		327,,327	-9.9	0.1	1	dbSNP_134	20	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	FBLIM1	NM_001024215.1,NM_001024216.1,NM_017556.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	109/375,,109/374	16093947	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16093947G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.327G>A	1.37:g.16093947G>A						FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	p.P109P	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	4	770	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	109			Pro-rich.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.327G>A	CCDS163.1																																																																																				0.657	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		A	16093947	G	A	16093947	2	1	79	1	0	0	0	0	0	0	0	1	5697	1074	38	1		1	FBLIM1	1	16093947	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		16093947	233156674	1	5274											
AKR7A3	22977	broad.mit.edu	37	chr1	19615062	19615062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggccctcgctgtacaCgaaggccgtgtctatctcgg	6	9	13	13	4	2	0	0	0	2	0	4	2	2	1	2	4	1	2	2	4	3	2	rs199504000		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:19615062C>G	ENST00000361640.4	-	1	682	c.142G>C	c.(142-144)Gtg>Ctg	p.V48L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	48					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTGTACACGAAGGCCGTG	0.711																																						uc001bbv.1																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(142-144)Gtg>Ctg		Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.		G	LEU/VAL	0,4402		0,0,2201	24	25	25		142	-6.3	0	1		25	3,8595	2.2+/-6.3	0,3,4296	no	missense	AKR7A3	NM_012067.2	32	0,3,6497	GG,GC,CC		0.0349,0.0,0.0231	benign	48/332	19615062	3,12997	2201	4299	6500	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19615062C>G	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.142G>C	1.37:g.19615062C>G	ENSP00000355377:p.Val48Leu						p.V48L	NM_012067	NP_036199	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	219	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	48					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.142G>C	CCDS193.1	.	.	.	.	.	.	.	.	.	.	c	2.715	-0.267819	0.05754	0.0	3.49E-4	ENSG00000162482	ENST00000361640	T	0.24538	1.85	3.17	-6.35	0.01975	NADP-dependent oxidoreductase domain (3);	0.086043	0.85682	D	0.000000	T	0.10035	0.0246	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09164	-1.0687	9	0.27082	T	0.32	.	3.0874	0.06283	0.1202:0.1309:0.1206:0.6283	.	48	O95154	ARK73_HUMAN	L	48	ENSP00000355377:V48L	ENSP00000355377:V48L	V	-	1	0	AKR7A3	19487649	0.026000	0.19158	0.001000	0.08648	0.030000	0.12068	-1.205000	0.03014	-2.004000	0.00961	-0.700000	0.03674	GTG		0.711	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		G	19615062	C	G	19615062	3	3	79	1	0	0	0	0	1	0	0	0	476	536	19	5	881	5	AKR7A3	1	19615062	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	3521115	19615062	229635559	2	5275											
C1orf103	55791	broad.mit.edu	37	chr1	111494470	111494470	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataggcatatttttggatcGcgtcccactaggatcgatgg	10	12	11	8	3	0	0	0	0	0	0	3	3	1	2	1	4	0	1	1	4	4	5	rs375319628		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:111494470G>A	ENST00000369763.4	-	2	1426	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTTTGGATCGCGTCCCACTA	0.353																																						uc001eaa.3																			0		p.R346Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1036-1038)Cga>Tga		Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.		G	,stop/ARG	0,4406		0,0,2203	82	86	85		,1036	5.7	0.9	1		85	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained	LRIF1	NM_001006945.1,NM_018372.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,346/770	111494470	1,13005	2203	4300	6503	SO:0001587	stop_gained	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494470G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1036C>T	1.37:g.111494470G>A	ENSP00000358778:p.Arg346*					LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	p.R346*	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN			1	1292	-			346					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Nonsense_Mutation	SNP	ENST00000369763.4	37	c.1036C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.893624	0.97074	0.0	1.16E-4	ENSG00000121931	ENST00000369763	.	.	.	5.7	5.7	0.88788	.	0.187793	0.37761	N	0.001947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0041	17.3445	0.87306	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000358778:R346X	R	-	1	2	LRIF1	111295993	1.000000	0.71417	0.877000	0.34402	0.209000	0.24338	5.818000	0.69236	2.705000	0.92388	0.591000	0.81541	CGA		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		A	111494470	G	A	111494470	4	1	79	1	0	0	0	0	0	1	0	0	1977	1095	38	1	1285	1	C1orf103	1	111494470	Nonsense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	91879408	111494470	137756151	3	5276											
HIPK1	204851	broad.mit.edu	37	chr1	114508833	114508833	+	Missense_Mutation	SNP	G	G	T																															gggtagctctacacaactctGtccagcccacagcaatgatt																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508833G>T	ENST00000369558.1	+	11	2552	c.2320G>T	c.(2320-2322)Gtc>Ttc	p.V774F	HIPK1_ENST00000369559.4_Missense_Mutation_p.V774F|HIPK1_ENST00000426820.2_Missense_Mutation_p.V774F|HIPK1_ENST00000369555.2_Missense_Mutation_p.V729F|HIPK1_ENST00000369553.1_Missense_Mutation_p.V380F|HIPK1_ENST00000369554.2_Missense_Mutation_p.V729F|HIPK1_ENST00000406344.1_Missense_Mutation_p.V380F|HIPK1_ENST00000369561.4_Missense_Mutation_p.V740F|HIPK1_ENST00000340480.4_Missense_Mutation_p.V400F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	774					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACAACTCTGTCCAGCCCAC	0.542																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2320-2322)Gtc>Ttc		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							108	95	99					1																	114508833		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114508833G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2320G>T	1.37:g.114508833G>T	ENSP00000358571:p.Val774Phe					HIPK1_uc001eel.3_Missense_Mutation_p.V774F|HIPK1_uc001een.3_Missense_Mutation_p.V774F|HIPK1_uc001eeo.3_Missense_Mutation_p.V400F|HIPK1_uc001eep.3_Missense_Mutation_p.V380F|HIPK1_uc001eeq.3_Missense_Mutation_p.V66F	p.V774F	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2481	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	774					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2320G>T	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.269508|5.269508	0.95429|0.95429	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000361587|ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.|T;T;T;T;T;T;T;T;T;T	.|0.22336	.|1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.76494	.|0.999;0.998;0.978;0.587	.|D;D;P;B	.|0.76575	.|0.988;0.964;0.694;0.318	T|T	0.05370|0.05370	-1.0889|-1.0889	5|10	.|0.56958	.|D	.|0.05	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;380;774;774	.|E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.|.;.;HIPK1_HUMAN;.	F|F	54|845;774;774;729;729;774;740;400;380;380	.|ENSP00000407442:V845F;ENSP00000358572:V774F;ENSP00000409673:V774F;ENSP00000358567:V729F;ENSP00000358568:V729F;ENSP00000358571:V774F;ENSP00000358574:V740F;ENSP00000340956:V400F;ENSP00000358566:V380F;ENSP00000384960:V380F	.|ENSP00000340956:V400F	C|V	+|+	2|1	0|0	HIPK1|HIPK1	114310356|114310356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.006000|3.006000	0.49529|0.49529	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.542	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		T	114508833	G	T	114508833	3	4	79	1	0	0	0	0	1	0	0	0	7116	1377	48	5	2376	5	HIPK1	1	114508833	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	3014363	114508833	134741788	4	5277	8	2									
HIPK1	204851	broad.mit.edu	37	chr1	114508840	114508840	+	Missense_Mutation	SNP	C	C	A																															tctacacaactctgtccagcCcacagcaatgattccagagg																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508840C>A	ENST00000369558.1	+	11	2559	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H	HIPK1_ENST00000369559.4_Missense_Mutation_p.P776H|HIPK1_ENST00000426820.2_Missense_Mutation_p.P776H|HIPK1_ENST00000369555.2_Missense_Mutation_p.P731H|HIPK1_ENST00000369553.1_Missense_Mutation_p.P382H|HIPK1_ENST00000369554.2_Missense_Mutation_p.P731H|HIPK1_ENST00000406344.1_Missense_Mutation_p.P382H|HIPK1_ENST00000369561.4_Missense_Mutation_p.P742H|HIPK1_ENST00000340480.4_Missense_Mutation_p.P402H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	776					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGTCCAGCCCACAGCAATG	0.552																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2326-2328)cCc>cAc		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							107	93	98					1																	114508840		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114508840C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2327C>A	1.37:g.114508840C>A	ENSP00000358571:p.Pro776His					HIPK1_uc001eel.3_Missense_Mutation_p.P776H|HIPK1_uc001een.3_Missense_Mutation_p.P776H|HIPK1_uc001eeo.3_Missense_Mutation_p.P402H|HIPK1_uc001eep.3_Missense_Mutation_p.P382H|HIPK1_uc001eeq.3_Missense_Mutation_p.P68H	p.P776H	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2488	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	776					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2327C>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857441	0.51376	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.18676	0.0448	N	0.14661	0.345	0.80722	D	1	B;B;B;D	0.59357	0.053;0.009;0.054;0.985	B;B;B;P	0.55999	0.043;0.03;0.021;0.789	T	0.01464	-1.1348	10	0.06494	T	0.89	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	68;382;776;776	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	H	847;776;776;731;731;776;742;402;382;382	ENSP00000407442:P847H;ENSP00000358572:P776H;ENSP00000409673:P776H;ENSP00000358567:P731H;ENSP00000358568:P731H;ENSP00000358571:P776H;ENSP00000358574:P742H;ENSP00000340956:P402H;ENSP00000358566:P382H;ENSP00000384960:P382H	ENSP00000340956:P402H	P	+	2	0	HIPK1	114310363	0.983000	0.35010	1.000000	0.80357	0.978000	0.69477	2.509000	0.45459	2.752000	0.94435	0.655000	0.94253	CCC		0.552	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		A	114508840	C	A	114508840	3	1	79	1	0	0	0	0	1	0	0	0	7116	623	22	5	2383	5	HIPK1	1	114508840	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	7	114508840	134741781	5	5278	8	2									
SMG5	23381	broad.mit.edu	37	chr1	156235769	156235769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggggcccagtgggccaTtgagggaatcgggagcctct	7	7	16	11	1	1	1	0	1	1	0	2	3	1	3	3	5	1	0	3	5	1	1	rs151295845		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:156235769T>C	ENST00000361813.5	-	12	1802	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	553					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGTGGGCCATTGAGGGAATC	0.607													T|||	1	0.000199681	0	0	5008	,	,		17501	0.001		0	False		,,,				2504	0					uc001foc.4																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(1657-1659)aAt>aGt		Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.		T	SER/ASN	0,4406		0,0,2203	52	51	51		1658	2	1	1	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SMG5	NM_015327.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	553/1017	156235769	3,13003	2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156235769T>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1658A>G	1.37:g.156235769T>C	ENSP00000355261:p.Asn553Ser						p.N553S	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			11	1807	-	Hepatocellular(266;0.158)		553					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.1658A>G	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748584	0.49257	0.0	3.49E-4	ENSG00000198952	ENST00000361813	T	0.32988	1.43	5.51	1.99	0.26369	.	0.127889	0.52532	D	0.000077	T	0.09291	0.0229	L	0.29908	0.895	0.80722	D	1	P	0.47762	0.9	B	0.40940	0.344	T	0.08126	-1.0737	10	0.33141	T	0.24	-7.8878	8.3463	0.32275	0.0:0.2294:0.0:0.7706	.	553	Q9UPR3	SMG5_HUMAN	S	553	ENSP00000355261:N553S	ENSP00000355261:N553S	N	-	2	0	SMG5	154502393	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.919000	0.70005	0.384000	0.24942	0.533000	0.62120	AAT		0.607	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		C	156235769	T	C	156235769	3	2	79	1	0	0	0	0	1	0	0	0	14796	1493	52	4	1436	4	SMG5	1	156235769	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	41726929	156235769	93014852	6	5279											
CADM3	57863	broad.mit.edu	37	chr1	159162382	159162382	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagcccttcgagataatCgaattcagctggttacctct	9	11	7	14	2	2	1	1	0	1	1	4	3	2	1	4	1	3	2	4	1	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:159162382C>T	ENST00000368125.4	+	3	401	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.R116*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	82	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGAGATAATCGAATTCAGCT	0.512																																						uc001ftl.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(244-246)Cga>Tga		Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.							119	106	110					1																	159162382		2203	4300	6503	SO:0001587	stop_gained	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162382C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.244C>T	1.37:g.159162382C>T	ENSP00000357107:p.Arg82*					CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	p.R82*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			2	423	+	all_hematologic(112;0.0429)		82			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Nonsense_Mutation	SNP	ENST00000368125.4	37	c.244C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	37	6.043642	0.97231	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	.	.	.	5.22	4.25	0.50352	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3294	0.43814	0.2853:0.7147:0.0:0.0	.	.	.	.	X	116;82;82	.	ENSP00000357106:R116X	R	+	1	2	CADM3	157429006	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.783000	0.26802	2.708000	0.92522	0.650000	0.86243	CGA		0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		T	159162382	C	T	159162382	4	4	79	1	0	0	0	0	0	1	0	0	2568	876	31	2	360	2	CADM3	1	159162382	Nonsense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2926613	159162382	90088239	7	5280											
PVRL4	81607	broad.mit.edu	37	chr1	161049728	161049728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtctccagctcacccgCggggcaccggcctgcagggg	5	5	16	15	3	2	1	1	1	1	0	3	1	2	1	4	6	2	3	4	6	0	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:161049728C>T	ENST00000368012.3	-	2	393	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	31					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCACCCGCGGGGCACCGG	0.627																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(91-93)Gcg>Acg		Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.							29	33	32					1																	161049728		2199	4298	6497	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049728C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.91G>A	1.37:g.161049728C>T	ENSP00000356991:p.Ala31Thr						p.A31T	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	390	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		31					B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.91G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211897	0.58452	.	.	ENSG00000143217	ENST00000368012	T	0.40756	1.02	5.51	4.59	0.56863	Immunoglobulin-like (1);	0.104110	0.42682	D	0.000671	T	0.20780	0.0500	N	0.19112	0.55	0.49687	D	0.99981	D	0.53885	0.963	P	0.48270	0.572	T	0.02519	-1.1147	10	0.33141	T	0.24	.	12.4339	0.55588	0.0:0.8314:0.1686:0.0	.	31	Q96NY8	PVRL4_HUMAN	T	31	ENSP00000356991:A31T	ENSP00000356991:A31T	A	-	1	0	PVRL4	159316352	0.471000	0.25862	0.041000	0.18516	0.707000	0.40811	1.112000	0.31172	1.297000	0.44761	0.650000	0.86243	GCG		0.627	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		T	161049728	C	T	161049728	3	4	79	1	0	0	0	0	1	0	0	0	12842	768	27	1	1473	1	PVRL4	1	161049728	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	1887346	161049728	88200893	8	5281											
XCL1	6375	broad.mit.edu	37	chr1	168550427	168550427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaacaggaacccagcaatCgaccaatacagctgtgactc	14	5	8	14	1	0	1	0	1	0	0	2	3	0	2	3	1	5	2	3	1	5	1	rs141027416		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:168550427C>T	ENST00000367818.3	+	3	479	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	105					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ACCCAGCAATCGACCAATACA	0.522																																						uc001gfo.2																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(313-315)tCg>tTg		Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.		C	LEU/SER	0,4406		0,0,2203	266	229	241		314	4.8	0	1	dbSNP_134	241	2,8598	2.2+/-6.3	0,2,4298	no	missense	XCL1	NM_002995.2	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	105/115	168550427	2,13004	2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168550427C>T	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.314C>T	1.37:g.168550427C>T	ENSP00000356792:p.Ser105Leu						p.S105L	NM_002995	NP_002986	P47992	XCL1_HUMAN			2	479	+	all_hematologic(923;0.208)		105					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.314C>T	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828983	0.50845	0.0	2.33E-4	ENSG00000143184	ENST00000367818	T	0.04049	3.72	4.83	4.83	0.62350	Chemokine interleukin-8-like domain (1);	0.527319	0.18984	N	0.125799	T	0.03053	0.0090	L	0.59436	1.845	0.28795	N	0.899091	P	0.43662	0.814	B	0.35073	0.195	T	0.27088	-1.0084	9	0.87932	D	0	-2.1747	13.611	0.62078	0.0:1.0:0.0:0.0	.	105	P47992	XCL1_HUMAN	L	105	ENSP00000356792:S105L	ENSP00000356792:S105L	S	+	2	0	XCL1	166817051	0.004000	0.15560	0.019000	0.16419	0.078000	0.17371	1.855000	0.39378	2.660000	0.90430	0.655000	0.94253	TCG		0.522	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		T	168550427	C	T	168550427	3	4	79	1	0	0	0	0	1	0	0	0	17420	893	31	2	324	2	XCL1	1	168550427	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	7500699	168550427	80700194	9	5282											
SELE	6401	broad.mit.edu	37	chr1	169697312	169697312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacagctggacccataaCggaaactgccagaagcacta	15	5	8	13	1	1	1	1	0	0	1	1	3	1	3	2	2	5	2	2	2	4	2	rs139137736		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:169697312C>T	ENST00000333360.7	-	8	1305	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H	SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.R389H|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.R389H|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	389	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGACCCATAACGGAAACTGCC	0.522																																						uc001ggm.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1165-1167)cGt>cAt		Homo sapiens selectin E (SELE), mRNA.		C	HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	124	123	123		1166	0.1	0	1	dbSNP_134	123	0,8600		0,0,4300	yes	missense	SELE	NM_000450.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	389/611	169697312	2,13004	2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169697312C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1166G>A	1.37:g.169697312C>T	ENSP00000331736:p.Arg389His					C1orf112_uc001ggj.3_Intron	p.R389H	NM_000450	NP_000441	P16581	LYAM2_HUMAN			7	1323	-	all_hematologic(923;0.208)		389			Sushi 4.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1166G>A	CCDS1283.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.863	0.528548	0.13127	4.54E-4	0.0	ENSG00000007908	ENST00000367782;ENST00000333360;ENST00000367777	T;T;T	0.65364	-0.15;-0.15;-0.15	5.58	0.0696	0.14375	Complement control module (2);Sushi/SCR/CCP (3);	0.736767	0.11450	N	0.562896	T	0.20740	0.0499	N	0.17312	0.475	0.21527	N	0.999652	B	0.12013	0.005	B	0.14023	0.01	T	0.23691	-1.0181	10	0.49607	T	0.09	-0.7423	5.783	0.18318	0.0:0.1448:0.2635:0.5916	.	389	P16581	LYAM2_HUMAN	H	389	ENSP00000356756:R389H;ENSP00000331736:R389H;ENSP00000356751:R389H	ENSP00000331736:R389H	R	-	2	0	SELE	167963936	0.003000	0.15002	0.016000	0.15963	0.021000	0.10359	0.006000	0.13152	0.079000	0.16929	-0.290000	0.09829	CGT		0.522	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		T	169697312	C	T	169697312	3	4	79	1	0	0	0	0	1	0	0	0	14013	536	19	1	690	1	SELE	1	169697312	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	1146885	169697312	79553309	10	5283											
OR2M3	127062	broad.mit.edu	37	chr1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcgctcc	8	12	7	14	2	2	1	1	1	1	0	4	1	3	1	2	1	3	4	2	1	2	4	rs147728074		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:248367150C>T	ENST00000456743.1	+	1	819	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502													c|||	1	0.000199681	0	0	5008	,	,		18234	0.001		0	False		,,,				2504	0					uc010pzg.2																			1	Substitution - Missense(1)	p.R261W(2)	prostate(1)	endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(781-783)Cgg>Tgg		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.		C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	201	184	190		781	-5.1	0	1	dbSNP_134	190	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2M3	NM_001004689.1	101	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	benign	261/313	248367150	6,13000	2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367150C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.781C>T	1.37:g.248367150C>T	ENSP00000389625:p.Arg261Trp						p.R261W	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	781	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.781C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	6.490	0.458682	0.12342	0.001135	1.16E-4	ENSG00000228198	ENST00000456743	T	0.37915	1.17	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.35422	0.0931	M	0.78285	2.405	0.09310	N	1	B	0.19073	0.033	B	0.25884	0.064	T	0.30001	-0.9993	10	0.44086	T	0.13	.	8.501	0.33159	0.6653:0.2427:0.0:0.092	.	261	Q8NG83	OR2M3_HUMAN	W	261	ENSP00000389625:R261W	ENSP00000389625:R261W	R	+	1	2	OR2M3	246433773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.842000	0.01681	-1.886000	0.01116	-0.507000	0.04495	CGG		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		T	248367150	C	T	248367150	3	4	79	1	0	0	0	0	1	0	0	0	11011	527	19	1	783	1	OR2M3	1	248367150	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	78669838	248367150	883471	11	5284											
ADD2	119	broad.mit.edu	37	chr2	70901894	70901894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggctgaaggggttgggcaCcgtctcctctgaatcgtctt	5	13	13	10	2	3	2	0	2	3	0	5	2	3	2	2	4	0	3	2	4	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:70901894C>T	ENST00000264436.4	-	14	2101	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	ADD2_ENST00000407644.2_Missense_Mutation_p.V553M|ADD2_ENST00000355733.3_Missense_Mutation_p.V553M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	553					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTTGGGCACCGTCTCCTCT	0.507																																						uc021vjc.1																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1657-1659)Gtg>Atg		Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.							263	236	245					2																	70901894		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70901894C>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1657G>A	2.37:g.70901894C>T	ENSP00000264436:p.Val553Met					ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V553M|ADD2_uc002sgz.3_Missense_Mutation_p.V553M|ADD2_uc010fdt.2_Missense_Mutation_p.V553M	p.V553M	NM_001185054	NP_001608	P35612	ADDB_HUMAN			13	1922	-			553					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1657G>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574140	0.45902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.24723	3.35;3.35;3.18;1.84	5.73	4.86	0.63082	.	0.566572	0.17666	N	0.166131	T	0.25344	0.0616	N	0.22421	0.69	0.40490	D	0.98053	B;P;B;P	0.47604	0.358;0.814;0.038;0.898	P;B;B;P	0.48166	0.447;0.429;0.066;0.569	T	0.04281	-1.0963	10	0.59425	D	0.04	-12.7149	12.8247	0.57712	0.0:0.9205:0.0:0.0795	.	553;553;553;553	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	M	553;553;305;553;247;553;247	ENSP00000264436:V553M;ENSP00000384677:V553M;ENSP00000347972:V553M;ENSP00000430243:V247M	ENSP00000264436:V553M	V	-	1	0	ADD2	70755402	0.000000	0.05858	0.938000	0.37757	0.975000	0.68041	0.486000	0.22340	1.426000	0.47256	0.655000	0.94253	GTG		0.507	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		T	70901894	C	T	70901894	3	4	79	1	0	0	0	0	1	0	0	0	305	507	18	3	625	3	ADD2	2	70901894	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		70901894	172297479	12	5285											
TTN	7273	broad.mit.edu	37	chr2	179446906	179446906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttggttatgttgctaaTaacaggaggatcacagcgtc	11	13	10	7	1	2	0	1	0	1	0	3	2	2	2	0	3	3	3	0	3	3	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:179446906T>C	ENST00000591111.1	-	265	61491	c.61267A>G	c.(61267-61269)Att>Gtt	p.I20423V	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13124V|TTN_ENST00000342992.6_Missense_Mutation_p.I19496V|TTN_ENST00000460472.2_Missense_Mutation_p.I12999V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I22064V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I13191V			Q8WZ42	TITIN_HUMAN	titin	20423	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGCTAATAACAGGAGGA	0.418																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(58486-58488)Att>Gtt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							69	68	69					2																	179446906		1866	4124	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446906T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61267A>G	2.37:g.179446906T>C	ENSP00000465570:p.Ile20423Val					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I13191V|TTN_uc021vta.1_Missense_Mutation_p.I13124V|TTN_uc021vtb.1_Missense_Mutation_p.I12999V	p.I19496V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	58711	-			20423			Fibronectin type-III 41.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58486A>G		.	.	.	.	.	.	.	.	.	.	T	12.92	2.083157	0.36758	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.68	4.5	0.54988	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25754	0.0627	N	0.03948	-0.315	0.41117	D	0.985785	B;B;B;B	0.17038	0.02;0.02;0.02;0.011	B;B;B;B	0.22601	0.04;0.04;0.04;0.028	T	0.07673	-1.0760	9	0.87932	D	0	.	9.0869	0.36587	0.0:0.1426:0.0:0.8574	.	12999;13124;13191;20423	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	19496;12999;13191;13124;12997	ENSP00000343764:I19496V;ENSP00000434586:I12999V;ENSP00000340554:I13191V;ENSP00000352154:I13124V	ENSP00000340554:I13191V	I	-	1	0	TTN	179155152	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.126000	0.64721	0.947000	0.37659	0.533000	0.62120	ATT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179446906	T	C	179446906	3	2	79	1	0	0	0	0	1	0	0	0	16732	1406	49	4	41981	4	TTN	2	179446906	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	108545012	179446906	63752467	13	5286											
OR5H2	79310	broad.mit.edu	37	chr3	98002586	98002586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactctgtcttttatacaatCataattcctttgctaaatcc	11	17	3	10	0	3	0	1	0	2	0	5	1	5	0	2	0	2	1	2	0	6	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:98002586C>T	ENST00000355273.2	+	1	855	c.855C>T	c.(853-855)atC>atT	p.I285I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATACAATCATAATTCCTT	0.328																																						uc003dsj.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(853-855)atC>atT		Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.							54	52	53					3																	98002586		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002586C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.855C>T	3.37:g.98002586C>T							p.I285I	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			0	855	+			285					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.855C>T	CCDS33801.1																																																																																				0.328	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			T	98002586	C	T	98002586	2	4	79	1	0	0	0	0	0	0	0	1	11162	816	29	3		3	OR5H2	3	98002586	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		98002586	100019844	14	5287											
HCLS1	3059	broad.mit.edu	37	chr3	121350755	121350755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatggcaacgtccccGccaccagccctcgtccacca	7	5	9	20	3	0	0	0	0	0	0	3	0	2	0	8	2	2	1	8	2	1	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121350755G>A	ENST00000314583.3	-	14	1490	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.R430W	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	467	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACGTCCCCGCCACCAGCCC	0.507																																						uc003eeh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1399-1401)Cgg>Tgg		Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.							134	131	132					3																	121350755		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121350755G>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1399C>T	3.37:g.121350755G>A	ENSP00000320176:p.Arg467Trp					HCLS1_uc011bjj.2_Missense_Mutation_p.R430W	p.R467W	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	13	1524	-			467			SH3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1399C>T	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271398	0.59649	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.52526	0.66;0.66	5.53	4.63	0.57726	Src homology-3 domain (5);	0.253240	0.41396	D	0.000893	T	0.54870	0.1885	L	0.39514	1.22	0.44409	D	0.997329	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.56667	-0.7941	10	0.87932	D	0	-15.3751	7.2841	0.26328	0.0858:0.0:0.7456:0.1686	.	430;467	E7EVW7;P14317	.;HCLS1_HUMAN	W	467;430	ENSP00000320176:R467W;ENSP00000387645:R430W	ENSP00000320176:R467W	R	-	1	2	HCLS1	122833445	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.040000	0.49799	2.607000	0.88179	0.563000	0.77884	CGG		0.507	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		A	121350755	G	A	121350755	3	1	79	1	0	0	0	0	1	0	0	0	6995	1086	38	1	65	1	HCLS1	3	121350755	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	23348169	121350755	76671675	15	5288											
ABTB1	80325	broad.mit.edu	37	chr3	127396603	127396603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagccagcgacctcagggGgccccccagccgtcaccctg	7	3	13	18	2	2	0	2	0	0	0	2	2	2	1	7	3	3	0	7	3	0	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:127396603G>T	ENST00000232744.8	+	10	1032	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C	ABTB1_ENST00000453791.2_Missense_Mutation_p.G174C|ABTB1_ENST00000393363.3_Missense_Mutation_p.G174C|ABTB1_ENST00000468137.1_Missense_Mutation_p.G174C					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GACCTCAGGGGGCCCCCCAGC	0.642																																						uc003ejt.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(946-948)Ggc>Tgc		Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.							29	30	30					3																	127396603		2202	4299	6501	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396603G>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.946G>T	3.37:g.127396603G>T	ENSP00000232744:p.Gly316Cys					ABTB1_uc003ejr.3_Missense_Mutation_p.G174C|ABTB1_uc003ejs.3_Missense_Mutation_p.G291C|ABTB1_uc003eju.3_Missense_Mutation_p.G174C|ABTB1_uc010hsm.3_Missense_Mutation_p.G43C	p.G316C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			9	1034	+			316			BTB 2.			Missense_Mutation	SNP	ENST00000232744.8	37	c.946G>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688008	0.29962	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.62364	0.03;0.27;0.03;0.03	5.17	3.3	0.37823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.294054	0.41500	D	0.000880	T	0.69097	0.3073	L	0.53249	1.67	0.26216	N	0.979224	D;P;P	0.76494	0.999;0.828;0.853	D;P;B	0.68353	0.957;0.526;0.371	T	0.59434	-0.7455	10	0.56958	D	0.05	-2.9996	6.4167	0.21719	0.4631:0.0:0.5369:0.0	.	152;316;291	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	C	152;174;316;174;174	ENSP00000377030:G174C;ENSP00000232744:G316C;ENSP00000412684:G174C;ENSP00000417366:G174C	ENSP00000232744:G316C	G	+	1	0	ABTB1	128879293	0.998000	0.40836	0.010000	0.14722	0.013000	0.08279	2.964000	0.49192	0.505000	0.28104	0.591000	0.81541	GGC		0.642	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		T	127396603	G	T	127396603	3	4	79	1	0	0	0	0	1	0	0	0	102	1232	43	5	984	5	ABTB1	3	127396603	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	6045848	127396603	70625827	16	5289											
EPHB1	2047	broad.mit.edu	37	chr3	134967277	134967277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagccggccccggtttgcGgagattgtcaacaccctaga	10	7	11	13	3	1	2	1	0	0	2	1	3	1	2	4	3	4	1	4	3	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:134967277G>A	ENST00000398015.3	+	14	2986	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	EPHB1_ENST00000493838.1_Silent_p.A433A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	872	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCGGTTTGCGGAGATTGTCA	0.582																																						uc003eqt.3																			0		p.A872G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2614-2616)gcG>gcA		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							34	40	38					3																	134967277		2197	4300	6497	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967277G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2616G>A	3.37:g.134967277G>A						EPHB1_uc003equ.3_Silent_p.A433A	p.A872A	NM_004441	NP_004432	P54762	EPHB1_HUMAN			13	2991	+			872			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2616G>A	CCDS46921.1																																																																																				0.582	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134967277	G	A	134967277	2	1	79	1	0	0	0	0	0	0	0	1	5174	1103	39	2		2	EPHB1	3	134967277	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	7570674	134967277	63055153	17	5290											
ZIC4	84107	broad.mit.edu	37	chr3	147108751	147108751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtacgcgccgccaccGccgccgaggaggccacctgg	5	2	16	18	8	0	0	0	0	0	0	0	2	0	1	7	5	1	1	7	5	1	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:147108751G>A	ENST00000383075.3	-	4	1483	c.971C>T	c.(970-972)gCg>gTg	p.A324V	ZIC4_ENST00000491672.1_Missense_Mutation_p.A118V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A362V|ZIC4_ENST00000473123.1_Missense_Mutation_p.A324V|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.A374V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A324V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	324						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCCGCCACCGCCGCCGAGGA	0.706																																						uc011bno.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(1120-1122)gCg>gTg		Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.							14	18	17					3																	147108751		2020	4143	6163	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108751G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.971C>T	3.37:g.147108751G>A	ENSP00000372553:p.Ala324Val					ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.A254V|ZIC4_uc021xff.1_Missense_Mutation_p.A362V|ZIC4_uc003ewd.2_Missense_Mutation_p.A324V|ZIC4_uc021xfg.1_Missense_Mutation_p.A118V	p.A374V	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN			3	1307	-			324					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.1121C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827140	0.71143	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.12361	2.78;2.7;2.69;2.78;2.78;2.8	4.65	3.7	0.42460	.	0.323996	0.22159	N	0.063818	T	0.15003	0.0362	L	0.59436	1.845	0.30637	N	0.7568360000000001	B;B	0.21688	0.059;0.024	B;B	0.10450	0.005;0.003	T	0.08868	-1.0701	9	0.62326	D	0.03	.	11.368	0.49684	0.0:0.127:0.7294:0.1436	.	374;324	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	324;362;374;324;324;118	ENSP00000372553:A324V;ENSP00000397695:A362V;ENSP00000435509:A374V;ENSP00000417855:A324V;ENSP00000420775:A324V;ENSP00000418277:A118V	ENSP00000372553:A324V	A	-	2	0	ZIC4	148591441	0.914000	0.31030	1.000000	0.80357	0.963000	0.63663	2.423000	0.44705	2.406000	0.81754	0.561000	0.74099	GCG		0.706	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			A	147108751	G	A	147108751	3	1	79	1	0	0	0	0	1	0	0	0	17678	1087	38	1	41	1	ZIC4	3	147108751	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	12141474	147108751	50913679	18	5291											
GAK	2580	broad.mit.edu	37	chr4	864620	864620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctgtccctgggctcCacctccacttccaggttcac	4	10	8	19	1	1	0	1	0	0	0	6	0	5	0	6	3	0	2	6	3	0	2	rs377594780		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:864620C>T	ENST00000314167.4	-	19	2237	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.V630V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	709	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTGGGCTCCACCTCCACTT	0.557																																						uc003gbm.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(2125-2127)gtG>gtA		Homo sapiens cyclin G associated kinase (GAK), mRNA.		C		0,4406		0,0,2203	72	75	74		2127	3.9	1	4		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GAK	NM_005255.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		709/1312	864620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:864620C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2127G>A	4.37:g.864620C>T						GAK_uc003gbn.4_Silent_p.V630V|GAK_uc010ibk.1_Silent_p.V603V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V573V	p.V709V	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	18	2326	-			709			C2 tensin-type.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.2127G>A	CCDS3340.1																																																																																				0.557	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		T	864620	C	T	864620	2	4	79	1	0	0	0	0	0	0	0	1	6195	581	21	3		3	GAK	4	864620	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		864620	190289656	19	5292											
ATP8A1	10396	broad.mit.edu	37	chr4	42505527	42505527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaacagtttgcaggaGtgtcctgtatccaaacacag	11	12	8	10	0	2	0	1	0	1	0	4	1	4	1	2	1	3	3	2	1	3	4	rs202148347		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:42505527G>C	ENST00000381668.5	-	24	2322	c.2091C>G	c.(2089-2091)caC>caG	p.H697Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.H682Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	697					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTTTGCAGGAGTGTCCTGTAT	0.274																																						uc003gwr.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2089-2091)caC>caG		Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						58	64	62					4																	42505527		2203	4295	6498	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42505527G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2091C>G	4.37:g.42505527G>C	ENSP00000371084:p.His697Gln					ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	p.H697Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			23	2323	-			697					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2091C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991162	0.35131	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.82803	-1.65;-1.65	5.53	1.86	0.25419	HAD-like domain (2);	0.053817	0.85682	D	0.000000	T	0.79862	0.4519	L	0.38175	1.15	0.80722	D	1	P;B	0.44986	0.847;0.061	P;B	0.49887	0.625;0.063	T	0.77550	-0.2546	10	0.59425	D	0.04	.	10.2742	0.43499	0.3916:0.0:0.6084:0.0	.	682;697	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	Q	697;682	ENSP00000371084:H697Q;ENSP00000264449:H682Q	ENSP00000264449:H682Q	H	-	3	2	ATP8A1	42200284	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.125000	0.31332	0.314000	0.23086	0.591000	0.81541	CAC		0.274	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		C	42505527	G	C	42505527	3	2	79	1	0	0	0	0	1	0	0	0	1192	1020	36	5	1459	5	ATP8A1	4	42505527	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	41640907	42505527	148648749	20	5293											
SLC4A4	8671	broad.mit.edu	37	chr4	72316924	72316924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatatgtactcaggtGgagagaatgttcagatgaat	16	10	12	3	0	2	4	2	1	0	3	2	7	2	5	0	2	1	2	0	2	6	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:72316924G>A	ENST00000264485.5	+	11	1345	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SLC4A4_ENST00000340595.3_Missense_Mutation_p.G366R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G410R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G410R|SLC4A4_ENST00000512686.1_Missense_Mutation_p.G366R|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	410					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTACTCAGGTGGAGAGAATGT	0.443																																						uc010iic.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1228-1230)Gga>Aga		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.							166	144	152					4																	72316924		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316924G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1228G>A	4.37:g.72316924G>A	ENSP00000264485:p.Gly410Arg					SLC4A4_uc003hfy.3_Missense_Mutation_p.G410R|SLC4A4_uc010iib.3_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.3_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.4_Missense_Mutation_p.G366R|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	p.G410R	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		10	1345	+			410					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1228G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856901	0.71834	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.77358	-1.08;-1.09;-0.7;0.1;-1.08	5.7	5.7	0.88788	Bicarbonate transporter, cytoplasmic (1);	0.048003	0.85682	D	0.000000	D	0.83727	0.5317	M	0.76328	2.33	0.80722	D	1	B;P;B;P;B;B	0.50443	0.399;0.935;0.323;0.847;0.157;0.263	B;P;B;P;B;B	0.52909	0.194;0.713;0.361;0.691;0.096;0.14	T	0.79605	-0.1734	10	0.14252	T	0.57	.	19.8314	0.96638	0.0:0.0:1.0:0.0	.	410;410;366;366;390;410	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	R	410;410;410;366;366	ENSP00000264485:G410R;ENSP00000393557:G410R;ENSP00000307349:G410R;ENSP00000422400:G366R;ENSP00000344272:G366R	ENSP00000264485:G410R	G	+	1	0	SLC4A4	72535788	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.382000	0.97209	2.675000	0.91044	0.655000	0.94253	GGA		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72316924	G	A	72316924	3	1	79	1	0	0	0	0	1	0	0	0	14656	1349	47	3	1387	3	SLC4A4	4	72316924	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	29811397	72316924	118837352	21	5294											
PPEF2	5470	broad.mit.edu	37	chr4	76797562	76797562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcttgctgccggcaccGctctagctccagttccacgg	4	9	11	17	3	1	0	0	0	1	0	3	0	3	0	5	2	4	6	5	2	1	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:76797562G>A	ENST00000286719.7	-	11	1554	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	400	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCGGCACCGCTCTAGCTCC	0.667																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1198-1200)Cgg>Tgg		Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.							28	31	30					4																	76797562		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797562G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1198C>T	4.37:g.76797562G>A	ENSP00000286719:p.Arg400Trp					PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R400W	p.R400W	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		10	1555	-			400			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1198C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571046	0.45798	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.42900	0.96	4.94	0.342	0.15996	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	5.288820	0.00706	N	0.000815	T	0.34832	0.0911	L	0.38531	1.155	0.09310	N	1	B;B	0.18741	0.03;0.009	B;B	0.12156	0.007;0.006	T	0.18808	-1.0325	10	0.46703	T	0.11	-0.3815	6.1948	0.20544	0.0:0.1947:0.4052:0.4001	.	400;400	O14830-2;O14830	.;PPE2_HUMAN	W	400	ENSP00000286719:R400W	ENSP00000286719:R400W	R	-	1	2	PPEF2	77016586	0.000000	0.05858	0.030000	0.17652	0.389000	0.30415	0.233000	0.17911	-0.173000	0.10761	0.491000	0.48974	CGG		0.667	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		A	76797562	G	A	76797562	3	1	79	1	0	0	0	0	1	0	0	0	12308	1086	38	1	1091	1	PPEF2	4	76797562	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	4480638	76797562	114356714	22	5295											
SHROOM3	57619	broad.mit.edu	37	chr4	77661370	77661370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagcctggagctaggcCggggaacccaggagggttac	10	4	16	11	1	0	0	0	0	0	0	0	3	0	3	3	6	5	3	3	6	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:77661370C>T	ENST00000296043.6	+	5	2997	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	682					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGCTAGGCCGGGGAACCCA	0.607																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2044-2046)Cgg>Tgg		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							45	57	53					4																	77661370		2202	4300	6502	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661370C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2044C>T	4.37:g.77661370C>T	ENSP00000296043:p.Arg682Trp					SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R460W	p.R682W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	2997	+			682					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2044C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815028	0.50527	.	.	ENSG00000138771	ENST00000296043	T	0.31769	1.48	5.41	3.68	0.42216	.	1.952470	0.02045	N	0.049614	T	0.26738	0.0654	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17268	0.008;0.021;0.004	B;B;B	0.09377	0.004;0.003;0.003	T	0.27872	-1.0061	10	0.66056	D	0.02	-1.1603	9.3023	0.37853	0.0788:0.1512:0.77:0.0	.	506;682;460	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	682	ENSP00000296043:R682W	ENSP00000296043:R682W	R	+	1	2	SHROOM3	77880394	0.481000	0.25941	0.002000	0.10522	0.007000	0.05969	0.946000	0.29069	0.651000	0.30788	-0.344000	0.07964	CGG		0.607	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77661370	C	T	77661370	3	4	79	1	0	0	0	0	1	0	0	0	14295	643	23	2	2062	2	SHROOM3	4	77661370	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	863808	77661370	113492906	23	5296											
FAM190A	401145	broad.mit.edu	37	chr4	91321221	91321221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggatcttgtgaactggAtgaagatgatctaatgcttg	10	15	12	4	0	2	4	0	3	2	1	2	6	2	6	0	2	2	1	0	2	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:91321221A>G	ENST00000509176.1	+	4	1832	c.1544A>G	c.(1543-1545)gAt>gGt	p.D515G	CCSER1_ENST00000333691.8_Missense_Mutation_p.D515G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D515G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	515																	TGTGAACTGGATGAAGATGAT	0.333																																						uc003hsv.4																			0				NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1543-1545)gAt>gGt		Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.							204	173	182					4																	91321221		1851	4110	5961	SO:0001583	missense	401145							g.chr4:91321221A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1544A>G	4.37:g.91321221A>G	ENSP00000425040:p.Asp515Gly					FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.D515G	p.D515G	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			3	1884	+			515					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1544A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072071	0.76415	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.55234	0.98;0.53;0.98	4.59	4.59	0.56863	.	0.136013	0.46145	D	0.000309	T	0.64560	0.2609	L	0.43152	1.355	0.40994	D	0.984876	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69072	-0.5242	10	0.87932	D	0	-23.0461	13.6413	0.62253	1.0:0.0:0.0:0.0	.	515;515	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	G	515	ENSP00000425040:D515G;ENSP00000389283:D515G;ENSP00000329482:D515G	ENSP00000329482:D515G	D	+	2	0	FAM190A	91540244	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.549000	0.73900	2.014000	0.59158	0.383000	0.25322	GAT		0.333	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		G	91321221	A	G	91321221	3	3	79	1	0	0	0	0	1	0	0	0	5521	333	12	4	1554	4	FAM190A	4	91321221	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	13659851	91321221	99833055	24	5297											
CTNND2	1501	broad.mit.edu	37	chr5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctacgatctgccgttcagCctccagctctcgggtcagcc	5	9	11	16	3	4	0	2	0	2	0	6	1	5	0	4	2	5	3	4	2	1	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:11565132C>T	ENST00000304623.8	-	3	400	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A71T|CTNND2_ENST00000511377.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	71					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(211-213)Gct>Act		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							87	70	76					5																	11565132		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11565132C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.211G>A	5.37:g.11565132C>T	ENSP00000307134:p.Ala71Thr					CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	p.A71T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	356	-			71					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.211G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468860	0.84533	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	T;T	0.77750	-1.05;-1.12	5.77	4.9	0.64082	.	0.000000	0.64402	D	0.000012	T	0.66790	0.2825	L	0.29908	0.895	0.80722	D	1	P	0.38922	0.651	B	0.35859	0.212	T	0.66590	-0.5885	10	0.33940	T	0.23	-9.119	14.7597	0.69596	0.0:0.845:0.155:0.0	.	71	Q9UQB3	CTND2_HUMAN	T	71;71;57;57	ENSP00000307134:A71T;ENSP00000352661:A71T	ENSP00000307134:A71T	A	-	1	0	CTNND2	11618132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	1.563000	0.49615	0.655000	0.94253	GCT		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11565132	C	T	11565132	3	4	79	1	0	0	0	0	1	0	0	0	4020	739	26	3	3546	3	CTNND2	5	11565132	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		11565132	169350128	25	5298											
PIK3R1	5295	broad.mit.edu	37	chr5	67591125	67591125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaccagaccttatccagcTgagaaagacgagagaccaat	17	6	8	10	1	0	4	0	1	0	4	1	7	1	4	4	0	2	1	4	0	5	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:67591125T>C	ENST00000521381.1	+	13	2334	c.1718T>C	c.(1717-1719)cTg>cCg	p.L573P	PIK3R1_ENST00000274335.5_Missense_Mutation_p.L573P|PIK3R1_ENST00000320694.8_Missense_Mutation_p.L273P|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L573P|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L303P|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L573P|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L210P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	573					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L573P(2)|p.L303P(2)|p.L273P(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTTATCCAGCTGAGAAAGACG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		9	Substitution - Missense(6)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.L573P(4)|p.L570_D578del(2)|p.L303P(2)|p.L273P(2)|p.0?(1)|p.?(1)|p.L570_Q572del(1)	endometrium(6)|large_intestine(1)|lung(1)|ovary(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1717-1719)cTg>cCg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						144	142	143					5																	67591125		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591125T>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1718T>C	5.37:g.67591125T>C	ENSP00000428056:p.Leu573Pro	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.3_Missense_Mutation_p.L303P|PIK3R1_uc003jve.3_Missense_Mutation_p.L252P|PIK3R1_uc021xzn.1_Missense_Mutation_p.L210P|PIK3R1_uc011crb.2_Missense_Mutation_p.L243P	p.L573P	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2298	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	573					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1718T>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354948	0.82243	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.992;0.992	T	0.70586	-0.4831	10	0.87932	D	0	-10.8803	14.6505	0.68794	0.0:0.0:0.0:1.0	.	243;303;273;573	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	P	573;573;573;573;273;303;210	ENSP00000428056:L573P;ENSP00000429277:L573P;ENSP00000379855:L573P;ENSP00000274335:L573P;ENSP00000323512:L273P;ENSP00000338554:L303P;ENSP00000430098:L210P	ENSP00000274335:L573P	L	+	2	0	PIK3R1	67626881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.825000	0.86693	2.103000	0.63969	0.477000	0.44152	CTG		0.383	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67591125	T	C	67591125	3	2	79	1	0	0	0	0	1	0	0	0	11918	1580	55	4	1894	4	PIK3R1	5	67591125	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	56025993	67591125	113324135	26	5299											
PRR16	51334	broad.mit.edu	37	chr5	120021968	120021968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgaaatggaggcttacCaggtggacctaacaaaattc	14	9	9	9	1	1	0	0	0	1	0	2	3	1	2	2	4	3	1	2	4	6	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:120021968C>A	ENST00000407149.2	+	2	688	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PRR16_ENST00000379551.2_Missense_Mutation_p.P137Q|PRR16_ENST00000505123.1_Missense_Mutation_p.P90Q|PRR16_ENST00000446965.1_Missense_Mutation_p.P90Q			Q569H4	LARGN_HUMAN	proline rich 16	160	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.P137Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGAGGCTTACCAGGTGGACCT	0.468																																						uc003ksq.3																			1	Substitution - Missense(1)	p.P137Q(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(478-480)cCa>cAa		Homo sapiens proline rich 16 (PRR16), mRNA.							68	62	64					5																	120021968		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021968C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.479C>A	5.37:g.120021968C>A	ENSP00000385118:p.Pro160Gln					PRR16_uc003ksp.3_Missense_Mutation_p.P137Q|PRR16_uc003ksr.3_Missense_Mutation_p.P90Q	p.P160Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	1	642	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	160			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.479C>A		.	.	.	.	.	.	.	.	.	.	C	14.76	2.631842	0.46944	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.63417	0.03;-0.04;0.46;0.34;0.34	5.6	3.71	0.42584	.	0.119053	0.56097	D	0.000022	T	0.54743	0.1877	L	0.58101	1.795	0.09310	N	1	B;B	0.22346	0.004;0.068	B;B	0.23419	0.008;0.046	T	0.44267	-0.9339	9	.	.	.	-1.2014	8.9386	0.35715	0.1783:0.745:0.0:0.0768	.	160;137	Q569H4;Q569H4-3	PRR16_HUMAN;.	Q	160;137;90;90;90	ENSP00000385118:P160Q;ENSP00000368869:P137Q;ENSP00000421256:P90Q;ENSP00000423446:P90Q;ENSP00000405491:P90Q	.	P	+	2	0	PRR16	120049867	0.290000	0.24343	0.005000	0.12908	0.978000	0.69477	2.604000	0.46274	0.598000	0.29829	0.644000	0.83932	CCA		0.468	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		A	120021968	C	A	120021968	3	1	79	1	0	0	0	0	1	0	0	0	12589	594	21	5	416	5	PRR16	5	120021968	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	52430843	120021968	60893292	27	5300											
SGCD	6444	broad.mit.edu	37	chr5	156186311	156186311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacgaggcagaaggtcttCgagatctgcgtctgcgccaa	10	7	14	10	4	3	2	0	0	3	2	4	5	3	3	1	3	3	1	1	3	3	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:156186311C>T	ENST00000435422.3	+	8	1267	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SGCD_ENST00000337851.4_Silent_p.F261F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.F261L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488																																						uc003lwc.4																			1	Substitution - Missense(1)	p.F261L(2)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(781-783)ttC>ttT		Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.							130	125	127					5																	156186311		1968	4175	6143	SO:0001819	synonymous_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186311C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.780C>T	5.37:g.156186311C>T						SGCD_uc003lwd.4_Silent_p.F260F	p.F261F	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1302	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	260		E -> K (in LGMD2F).			A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	c.783C>T	CCDS47327.1																																																																																				0.488	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			T	156186311	C	T	156186311	2	4	79	1	0	0	0	0	0	0	0	1	14201	883	31	2		2	SGCD	5	156186311	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	36164343	156186311	24728949	28	5301											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552111	178552111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagcggctgaatgcagcGcacggagcgcacctgcatgc	8	6	15	12	4	0	1	0	1	0	0	0	2	0	2	1	2	6	6	1	2	2	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:178552111G>A	ENST00000251582.7	-	19	2922	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	941	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAATGCAGCGCACGGAGCGC	0.692																																						uc003mjw.3																			0		p.R941H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2821-2823)Cgc>Tgc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							107	107	107					5																	178552111		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552111G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2821C>T	5.37:g.178552111G>A	ENSP00000251582:p.Arg941Cys						p.R941C	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	18	2923	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	941			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2821C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309006	0.60414	.	.	ENSG00000087116	ENST00000251582	T	0.55234	0.53	5.31	5.31	0.75309	.	0.221905	0.31922	N	0.006848	T	0.77343	0.4116	H	0.95328	3.655	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.83742	0.0204	10	0.66056	D	0.02	.	12.9982	0.58660	0.0:0.0:0.8387:0.1613	.	941	O95450	ATS2_HUMAN	C	941	ENSP00000251582:R941C	ENSP00000251582:R941C	R	-	1	0	ADAMTS2	178484717	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	4.090000	0.57693	2.481000	0.83766	0.655000	0.94253	CGC		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178552111	G	A	178552111	3	1	79	1	0	0	0	0	1	0	0	0	265	1087	38	1	830	1	ADAMTS2	5	178552111	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	22365800	178552111	2363149	29	5302											
GMDS	2762	broad.mit.edu	37	chr6	1930436	1930436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatcttagctactgaccgGctaatttttcgagtaacgaa	13	13	7	8	3	1	1	0	1	1	0	2	3	1	1	1	1	3	3	1	1	7	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:1930436G>A	ENST00000380815.4	-	7	941	c.672C>T	c.(670-672)agC>agT	p.S224S	GMDS_ENST00000530927.1_Silent_p.S194S	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	224					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTACTGACCGGCTAATTTTTC	0.428																																						uc003mtq.3																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(670-672)agC>agT		Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.							94	87	89					6																	1930436		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1930436G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.672C>T	6.37:g.1930436G>A						GMDS_uc021ykn.1_Silent_p.S194S	p.S224S	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	6	884	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	224					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.672C>T	CCDS4474.1																																																																																				0.428	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			A	1930436	G	A	1930436	2	1	79	1	0	0	0	0	0	0	0	1	6486	1194	42	3		3	GMDS	6	1930436	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		1930436	169184631	30	5303											
ZSCAN23	222696	broad.mit.edu	37	chr6	28402496	28402496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgccacaaacactgcactGgtagcgcttctccccagtgt	8	11	8	14	1	1	0	0	0	1	0	2	0	1	0	3	1	4	3	3	1	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:28402496G>C	ENST00000289788.4	-	4	1061	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	306					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ACACTGCACTGGTAGCGCTTC	0.542																																						uc003nli.4																			0				breast(1)|prostate(1)|stomach(2)	4						c.(916-918)Cag>Gag		Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.							69	63	65					6																	28402496		692	1591	2283	SO:0001583	missense	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28402496G>C	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.916C>G	6.37:g.28402496G>C	ENSP00000289788:p.Gln306Glu					ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Non-coding_Transcript|ZSCAN23_uc011dli.2_3'UTR	p.Q306E	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN			3	1097	-			306					Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	37	c.916C>G	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	G	9.659	1.143584	0.21205	.	.	ENSG00000187987	ENST00000289788	T	0.15487	2.42	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001836	T	0.07638	0.0192	L	0.35793	1.09	0.21290	N	0.999735	D	0.53312	0.959	P	0.54544	0.755	T	0.08576	-1.0715	10	0.02654	T	1	.	9.5495	0.39301	0.0:0.0:0.7903:0.2097	.	306	Q3MJ62	ZSC23_HUMAN	E	306	ENSP00000289788:Q306E	ENSP00000289788:Q306E	Q	-	1	0	ZSCAN23	28510475	0.000000	0.05858	0.999000	0.59377	0.979000	0.70002	-0.355000	0.07671	2.219000	0.72066	0.650000	0.86243	CAG		0.542	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		C	28402496	G	C	28402496	3	2	79	1	0	0	0	0	1	0	0	0	18232	1357	47	5	257	5	ZSCAN23	6	28402496	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	26472060	28402496	142712571	31	5304											
PPP1R10	5514	broad.mit.edu	37	chr6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgggggcgatgcccaCttcccatgccaccgccaggg	6	7	12	16	2	1	0	1	0	0	0	2	1	2	0	5	3	2	0	5	3	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:30570090C>T	ENST00000376511.2	-	19	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	779	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672																																						uc003nqn.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2335-2337)aGt>aAt		Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.							160	171	167					6																	30570090		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570090C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2336G>A	6.37:g.30570090C>T	ENSP00000365694:p.Ser779Asn					PPP1R10_uc010jsc.1_Missense_Mutation_p.S433N	p.S779N	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			18	2888	-			779			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2336G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109160	0.20714	.	.	ENSG00000204569	ENST00000376511	T	0.56941	0.43	2.09	2.09	0.27110	.	0.273852	0.26635	N	0.023293	T	0.13756	0.0333	N	0.08118	0	0.25064	N	0.991047	B	0.20261	0.043	B	0.14023	0.01	T	0.23190	-1.0195	10	0.32370	T	0.25	-0.2633	11.9186	0.52779	0.0:1.0:0.0:0.0	.	779	Q96QC0	PP1RA_HUMAN	N	779	ENSP00000365694:S779N	ENSP00000365694:S779N	S	-	2	0	PPP1R10	30678069	0.020000	0.18652	0.981000	0.43875	0.939000	0.58152	1.434000	0.34958	1.482000	0.48325	0.491000	0.48974	AGT		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		T	30570090	C	T	30570090	3	4	79	1	0	0	0	0	1	0	0	0	12352	565	20	3	494	3	PPP1R10	6	30570090	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2167594	30570090	140544977	32	5305											
SFRS18	25957	broad.mit.edu	37	chr6	99856145	99856145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtcctgcgttttactgCgtctgtttcacgtgggaaaa	9	13	11	8	3	2	1	1	0	1	1	3	2	3	2	1	1	3	2	1	1	4	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:99856145C>T	ENST00000369239.5	-	7	880	c.676G>A	c.(676-678)Gca>Aca	p.A226T	PNISR_ENST00000438806.1_Missense_Mutation_p.A226T	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	226						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGTTTTACTGCGTCTGTTTCA	0.358																																						uc003ppo.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(676-678)Gca>Aca		Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.							74	69	71					6																	99856145		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99856145C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.676G>A	6.37:g.99856145C>T	ENSP00000358242:p.Ala226Thr					PNISR_uc003ppp.4_Missense_Mutation_p.A226T|PNISR_uc011eag.2_Missense_Mutation_p.A226T|PNISR_uc003ppr.2_Missense_Mutation_p.A226T	p.A226T	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN			6	904	-			226					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.676G>A	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941009	0.92526	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.48522	0.81;0.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60556	-0.7240	10	0.49607	T	0.09	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	226	Q8TF01	PNISR_HUMAN	T	226	ENSP00000358242:A226T;ENSP00000387997:A226T	ENSP00000358242:A226T	A	-	1	0	PNISR	99962866	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	GCA		0.358	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		T	99856145	C	T	99856145	3	4	79	1	0	0	0	0	1	0	0	0	14174	768	27	1	1765	1	SFRS18	6	99856145	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	69286055	99856145	71258922	33	5306											
ATG5	9474	broad.mit.edu	37	chr6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtccaaaccacacatctcGaagcacatctttgtcatctg	11	11	5	14	2	4	0	1	0	3	0	7	1	5	0	2	0	2	1	2	0	2	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:106764059G>A	ENST00000369076.3	-	2	348	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_ENST00000343245.3_Nonsense_Mutation_p.R9*|ATG5_ENST00000369070.1_5'UTR|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R9*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	9					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368																																						uc003prf.3																			0				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(25-27)Cga>Tga		Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.							212	192	199					6																	106764059		2203	4300	6503	SO:0001587	stop_gained	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106764059G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.25C>T	6.37:g.106764059G>A	ENSP00000358072:p.Arg9*					ATG5_uc010kdb.3_Nonsense_Mutation_p.R9*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R9*	p.R9*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	1	378	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	9					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	c.25C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	38	6.888696	0.97912	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9696	7.0972	0.25317	0.1538:0.0:0.7123:0.1339	.	.	.	.	X	9	.	ENSP00000343313:R9X	R	-	1	2	ATG5	106870752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.884000	0.63135	1.088000	0.41272	0.655000	0.94253	CGA		0.368	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		A	106764059	G	A	106764059	4	1	79	1	0	0	0	0	0	1	0	0	1100	1066	37	2	830	2	ATG5	6	106764059	Nonsense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	6907914	106764059	64351008	34	5307											
TXLNB	167838	broad.mit.edu	37	chr6	139564240	139564240	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcggtttggacactattaAcctcctctgcgtcaatctct	7	13	8	13	3	3	0	1	0	2	0	5	1	4	1	2	3	2	1	2	3	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:139564240A>T	ENST00000358430.3	-	10	1710	c.1478T>A	c.(1477-1479)gTt>gAt	p.V493D	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	493						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GACACTATTAACCTCCTCTGC	0.478																																						uc021zfy.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1477-1479)gTt>gAt		Homo sapiens taxilin beta (TXLNB), mRNA.							114	119	118					6																	139564240		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564240A>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1478T>A	6.37:g.139564240A>T	ENSP00000351206:p.Val493Asp						p.V493D	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	9	1643	-			493					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1478T>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.176145	0.38413	.	.	ENSG00000164440	ENST00000358430	T	0.14766	2.48	6.06	-2.93	0.05598	.	1.825690	0.01935	N	0.041462	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23574	0.047	T	0.32903	-0.9889	9	.	.	.	0.7695	7.2319	0.26046	0.4487:0.1928:0.3586:0.0	.	493	Q8N3L3	TXLNB_HUMAN	D	493	ENSP00000351206:V493D	.	V	-	2	0	TXLNB	139605933	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.026000	0.13599	-1.052000	0.03222	-0.408000	0.06270	GTT		0.478	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139564240	A	T	139564240	3	4	79	1	0	0	0	0	1	0	0	0	16785	43	2	5	580	5	TXLNB	6	139564240	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	32800181	139564240	31550827	35	5308											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066565	18066565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttggagcaatgcttcaTcttctcatcttgaggtatgg	8	17	9	7	0	4	1	2	1	3	0	5	2	4	2	0	3	2	3	0	3	3	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:18066565T>C	ENST00000506618.2	-	1	921	c.841A>G	c.(841-843)Atg>Gtg	p.M281V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	281					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CAATGCTTCATCTTCTCATCT	0.438																																						uc003stz.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(841-843)Atg>Gtg		Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.							195	195	195					7																	18066565		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066565T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.841A>G	7.37:g.18066565T>C	ENSP00000424595:p.Met281Val						p.M281V	NM_175886	NP_787082	P21108	PRPS3_HUMAN			0	922	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		281					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.841A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	6.773	0.511497	0.12944	.	.	ENSG00000229937	ENST00000506618	T	0.70869	-0.52	4.44	2.02	0.26589	.	.	.	.	.	T	0.56232	0.1971	L	0.33293	1	.	.	.	B	0.10296	0.003	B	0.12837	0.008	T	0.55042	-0.8202	8	0.38643	T	0.18	.	7.503	0.27528	0.0:0.1848:0.0:0.8152	.	281	P21108	PRPS3_HUMAN	V	281	ENSP00000424595:M281V	ENSP00000424595:M281V	M	-	1	0	PRPS1L1	18033090	1.000000	0.71417	0.984000	0.44739	0.838000	0.47535	3.613000	0.54152	0.330000	0.23485	0.528000	0.53228	ATG		0.438	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		C	18066565	T	C	18066565	3	2	79	1	0	0	0	0	1	0	0	0	12579	1435	50	4	119	4	PRPS1L1	7	18066565	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08		18066565	141072098	36	5309											
PKD1L1	168507	broad.mit.edu	37	chr7	47867036	47867036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatgcgcccagcgcaGgtggcgagcttgttgtcggg	4	9	19	9	4	0	0	0	0	0	0	1	2	0	1	1	5	3	3	1	5	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:47867036G>C	ENST00000289672.2	-	45	6816	c.6766C>G	c.(6766-6768)Ctg>Gtg	p.L2256V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2256					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCAGCGCAGGTGGCGAGCT	0.667																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(6766-6768)Ctg>Gtg		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.							52	45	48					7																	47867036		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47867036G>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6766C>G	7.37:g.47867036G>C	ENSP00000289672:p.Leu2256Val					C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR	p.L2256V	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			44	6800	-			2256					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6766C>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563325	0.45694	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	5.29	1.58	0.23477	.	0.127621	0.31113	N	0.008234	T	0.16769	0.0403	M	0.61703	1.905	0.21020	N	0.999806	P	0.41313	0.745	B	0.36186	0.219	T	0.11591	-1.0581	10	0.37606	T	0.19	-22.9208	5.4325	0.16460	0.5163:0.0:0.4837:0.0	.	2256	Q8TDX9	PK1L1_HUMAN	V	2256	ENSP00000289672:L2256V	ENSP00000289672:L2256V	L	-	1	2	PKD1L1	47833561	0.618000	0.27051	0.717000	0.30585	0.792000	0.44763	0.622000	0.24433	0.442000	0.26555	0.655000	0.94253	CTG		0.667	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		C	47867036	G	C	47867036	3	2	79	1	0	0	0	0	1	0	0	0	11964	991	35	5	1835	5	PKD1L1	7	47867036	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	29800471	47867036	111271627	37	5310											
CALN1	83698	broad.mit.edu	37	chr7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgaggctcttccggaCgcaggtctgtctgttctgct	5	13	12	11	2	4	1	0	1	4	0	5	2	5	2	1	3	1	5	1	3	1	3	rs144352678	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:71252855C>T	ENST00000329008.5	-	6	863	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	CALN1_ENST00000412588.1_Missense_Mutation_p.V231I|CALN1_ENST00000431984.1_Missense_Mutation_p.V189I|CALN1_ENST00000405452.2_Missense_Mutation_p.V189I|CALN1_ENST00000395276.2_Missense_Mutation_p.V189I|CALN1_ENST00000395275.2_Missense_Mutation_p.V231I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													C|||	2	0.000399361	0	0	5008	,	,		20837	0.002		0	False		,,,				2504	0					uc003twb.4																			1	Substitution - Missense(1)	p.V189I(1)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(691-693)Gtc>Atc		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123	97	106		565,691	5.1	1	7	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_001017440.2,NM_031468.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/220,231/262	71252855	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252855C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.565G>A	7.37:g.71252855C>T	ENSP00000332498:p.Val189Ile					CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	p.V231I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1082	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	189					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.691G>A	CCDS5541.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	32	5.173620	0.94807	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74632	-0.7;-0.86;-0.7;-0.7;-0.86;-0.7	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80182	0.4576	L	0.29908	0.895	0.52099	D	0.99994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.82731	-0.0312	10	0.72032	D	0.01	0.0876	17.5493	0.87872	0.0:1.0:0.0:0.0	.	189;189	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	I	189;231;189;189;231;189	ENSP00000332498:V189I;ENSP00000378690:V231I;ENSP00000378691:V189I;ENSP00000410704:V189I;ENSP00000391882:V231I;ENSP00000384354:V189I	ENSP00000332498:V189I	V	-	1	0	CALN1	70890791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GTC		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71252855	C	T	71252855	3	4	79	1	0	0	0	0	1	0	0	0	2591	536	19	1	98	1	CALN1	7	71252855	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	23385819	71252855	87885808	38	5311											
ZAN	7455	broad.mit.edu	37	chr7	100336230	100336230	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatggcgacttctctagcCctggtagtgagtagcggcca	7	10	13	11	2	1	2	0	2	1	0	2	3	1	2	2	3	2	2	2	3	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:100336230C>T	ENST00000348028.3	+	0	925				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCTCTAGCCCTGGTAGTGA	0.577																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(760-762)Cct>Tct		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							42	42	42					7																	100336230		1992	3949	5941			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100336230C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100336230C>T						ZAN_uc003uwk.3_Missense_Mutation_p.P254S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	p.P254S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		6	925	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		254			MAM 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.760C>T		.	.	.	.	.	.	.	.	.	.	C	16.86	3.238538	0.58886	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01947	4.54;4.54;4.54	4.87	3.99	0.46301	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.40554	N	0.001069	T	0.06142	0.0159	L	0.42245	1.32	0.39060	D	0.960501	D;D	0.56287	0.969;0.975	P;P	0.60012	0.79;0.867	T	0.28138	-1.0053	10	0.87932	D	0	.	9.7426	0.40427	0.0:0.9017:0.0:0.0983	.	254;254	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	254	ENSP00000445943:P254S;ENSP00000445091:P254S;ENSP00000444427:P254S	ENSP00000423579:P254S	P	+	1	0	ZAN	100174166	0.998000	0.40836	0.078000	0.20375	0.138000	0.21146	3.385000	0.52485	1.364000	0.46038	0.561000	0.74099	CCT		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100336230	C	T	100336230	1	4	79	0	1	0	0	0	0	0	0	0	17510	623	22	3		3	ZAN	7	100336230	RNA	SNP	C	TCGA-06-2562-01A-01D-1494-08	29083375	100336230	58802433	39	5312											
OPN1SW	611	broad.mit.edu	37	chr7	128415497	128415497	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccctgcagtacctgcTacagtgcccaggaagccctc	7	10	8	16	0	0	0	0	0	0	0	2	1	1	1	5	1	6	3	5	1	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:128415497T>A	ENST00000249389.2	-	1	347	c.348A>T	c.(346-348)gtA>gtT	p.V116V		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	116					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAGTACCTGCTACAGTGCCCA	0.547																																						uc003vnt.4																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(346-348)gtA>gtT		Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.							113	116	115					7																	128415497		2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415497T>A	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.348A>T	7.37:g.128415497T>A							p.V116V	NM_001708	NP_001699	P03999	OPSB_HUMAN			0	348	-			116					Q13877	Silent	SNP	ENST00000249389.2	37	c.348A>T	CCDS5806.1																																																																																				0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		A	128415497	T	A	128415497	2	1	79	1	0	0	0	0	0	0	0	1	10880	1509	53	5		5	OPN1SW	7	128415497	Silent	SNP	T	TCGA-06-2562-01A-01D-1494-08	28079267	128415497	30723166	40	5313											
TTC26	79989	broad.mit.edu	37	chr7	138854079	138854079	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttccagttggtgggAggatcagctagtgaatgtgg	8	12	15	6	0	2	1	1	1	1	0	3	3	3	3	1	4	1	3	1	4	2	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:138854079A>G	ENST00000464848.1	+	12	1130	c.1050A>G	c.(1048-1050)ggA>ggG	p.G350G	TTC26_ENST00000478836.2_Silent_p.G243G|TTC26_ENST00000495038.1_Silent_p.G219G|TTC26_ENST00000343187.4_Silent_p.G319G|TTC26_ENST00000430935.1_Silent_p.G350G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	350					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTTGGTGGGAGGATCAGCTA	0.368																																						uc003vus.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(1048-1050)ggA>ggG		Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.							169	162	164					7																	138854079		2203	4300	6503	SO:0001819	synonymous_variant	79989						binding	g.chr7:138854079A>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1050A>G	7.37:g.138854079A>G						TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	p.G350G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			11	1164	+			350					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.1050A>G	CCDS5852.1																																																																																				0.368	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		G	138854079	A	G	138854079	2	3	79	1	0	0	0	0	0	0	0	1	16691	291	11	4		4	TTC26	7	138854079	Silent	SNP	A	TCGA-06-2562-01A-01D-1494-08	10438582	138854079	20284584	41	5314											
GIMAP5	55340	broad.mit.edu	37	chr7	150439564	150439564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgccccggggccccacGtcctgcttctggtgatccag	3	10	11	17	2	2	1	0	1	2	0	5	1	4	1	6	3	2	1	6	3	0	1	rs201011395		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:150439564G>A	ENST00000358647.3	+	3	704	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	113	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGCCCCACGTCCTGCTTCT	0.587													G|||	1	0.000199681	0	0	5008	,	,		18261	0		0	False		,,,				2504	0.001					uc022apw.1																			0											c.(949-951)Gtc>Atc		Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	73	75	74		949,337	3.2	1	7		74	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	317/512,113/308	150439564	2,13004	2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439564G>A	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.337G>A	7.37:g.150439564G>A	ENSP00000351473:p.Val113Ile					GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.V113I	p.V317I	NM_001199577	NP_001186506					5	1089	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.949G>A	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106662	0.77096	0.0	2.33E-4	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05925	3.37	4.15	3.24	0.37175	AIG1 (1);	0.131721	0.51477	D	0.000086	T	0.17195	0.0413	M	0.69358	2.11	0.28692	N	0.904567	D	0.76494	0.999	D	0.65573	0.936	T	0.00719	-1.1595	10	0.59425	D	0.04	.	7.9216	0.29850	0.1176:0.0:0.8824:0.0	.	113	Q96F15	GIMA5_HUMAN	I	113;149	ENSP00000351473:V113I	ENSP00000351473:V113I	V	+	1	0	GIMAP5	150070497	0.488000	0.25996	1.000000	0.80357	0.851000	0.48451	4.121000	0.57904	2.143000	0.66587	0.655000	0.94253	GTC		0.587	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		A	150439564	G	A	150439564	3	1	79	1	0	0	0	0	1	0	0	0	6382	1145	40	1	343	1	GIMAP5	7	150439564	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	11585485	150439564	8699099	42	5315											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606125	71606125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttgaccgctgagcccaaCactctggaagtgcaggatga	11	8	11	11	1	1	3	0	3	1	0	1	5	1	5	2	2	4	2	2	2	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:71606125C>T	ENST00000265382.3	+	15	1877	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	524					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTGAGCCCAACACTCTGGAAG	0.428																																						uc004agu.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1570-1572)aaC>aaT		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.							157	138	144					9																	71606125		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606125C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1572C>T	9.37:g.71606125C>T						PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript	p.N524N	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1877	+			524					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.1572C>T	CCDS6624.1																																																																																				0.428	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		T	71606125	C	T	71606125	2	4	79	1	0	0	0	0	0	0	0	1	11940	477	17	3		3	PIP5K1B	9	71606125	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		71606125	69607306	43	5316											
PALM2	114299	broad.mit.edu	37	chr9	112694260	112694260	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccaatcctctgttcaCgaacagcagaaccatcacct	12	8	5	16	1	3	1	2	0	1	1	4	2	4	1	5	0	4	2	5	0	3	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:112694260C>T	ENST00000374531.2	+	6	474				PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.R150*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.R150*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.R150*|PALM2_ENST00000314527.4_Nonsense_Mutation_p.R150*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.R150*|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000448454.2_Nonsense_Mutation_p.R152*	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCTCTGTTCACGAACAGCAGA	0.542																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(448-450)Cga>Tga		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							138	133	135					9																	112694260		2203	4300	6503	SO:0001627	intron_variant	445815						enzyme binding	g.chr9:112694260C>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6898C>T	9.37:g.112694260C>T						PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bej.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bek.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bel.1_Intron	p.R150*	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			5	640	+			0					A9Z1X9|Q8N9D5|Q96DU1	Nonsense_Mutation	SNP	ENST00000374531.2	37	c.448C>T	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	C	37	6.470577	0.97594	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	.	.	.	6.17	3.32	0.38043	.	1.309160	0.05762	N	0.605000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	4.8271	12.7551	0.57331	0.1207:0.647:0.2323:0.0	.	.	.	.	X	152;150;136;150;150;150;150;150	.	ENSP00000305861:R150X	R	+	1	2	PALM2-AKAP2;PALM2;AKAP2	111734081	0.982000	0.34865	0.837000	0.33122	0.959000	0.62525	2.133000	0.42093	0.458000	0.26988	0.655000	0.94253	CGA		0.542	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		T	112694260	C	T	112694260	1	4	79	0	1	0	0	0	0	0	0	0	11409	528	19	1		1	PALM2	9	112694260	Intron	SNP	C	TCGA-06-2562-01A-01D-1494-08	41088135	112694260	28519171	44	5317											
SLC46A2	57864	broad.mit.edu	37	chr9	115652657	115652657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatctttcggtggtagCggtcgctgagccatcccagc	6	10	14	11	3	1	2	0	1	1	1	4	3	2	2	2	4	3	2	2	4	1	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:115652657C>T	ENST00000374228.4	-	1	536	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	102					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCGGTGGTAGCGGTCGCTGAG	0.607																																						uc004bgk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(304-306)cGc>cAc		Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.							83	84	84					9																	115652657		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652657C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.305G>A	9.37:g.115652657C>T	ENSP00000363345:p.Arg102His						p.R102H	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			0	537	-			102					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.305G>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258769	0.59321	.	.	ENSG00000119457	ENST00000374228	T	0.65549	-0.16	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);	0.301195	0.36200	N	0.002731	T	0.70806	0.3266	L	0.47716	1.5	0.50813	D	0.999891	D	0.89917	1.0	D	0.69824	0.966	T	0.66650	-0.5870	10	0.29301	T	0.29	-19.2531	13.2322	0.59949	0.1588:0.8412:0.0:0.0	.	102	Q9BY10	TSCOT_HUMAN	H	102	ENSP00000363345:R102H	ENSP00000363345:R102H	R	-	2	0	SLC46A2	114692478	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.784000	0.26816	2.623000	0.88846	0.650000	0.86243	CGC		0.607	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		T	115652657	C	T	115652657	3	4	79	1	0	0	0	0	1	0	0	0	14645	768	27	1	1138	1	SLC46A2	9	115652657	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2958397	115652657	25560774	45	5318											
SLIT1	6585	broad.mit.edu	37	chr10	98808848	98808848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacttgaggttacagtcGcaaatgaaagggttctgcgc	11	9	12	9	2	1	2	0	2	1	0	2	2	1	2	1	2	3	3	1	2	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr10:98808848G>A	ENST00000266058.4	-	14	1574	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	SLIT1_ENST00000371070.4_Silent_p.C443C|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	443	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTTACAGTCGCAAATGAAAG	0.617																																						uc001kmw.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1327-1329)tgC>tgT		Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.							63	57	59					10																	98808848		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808848G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1329C>T	10.37:g.98808848G>A						SLIT1_uc009xvh.1_Silent_p.C453C	p.C443C	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	13	1581	-		Colorectal(252;0.162)	443			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1329C>T	CCDS7453.1																																																																																				0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		A	98808848	G	A	98808848	2	1	79	1	0	0	0	0	0	0	0	1	14739	1079	38	1		1	SLIT1	10	98808848	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		98808848	36725899	46	5319											
RBMXL2	27288	broad.mit.edu	37	chr11	7111073	7111073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggagagtacacccaccGcgattacggccactccagtg	9	5	11	16	4	0	1	0	0	0	1	1	3	1	1	5	2	2	1	5	2	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:7111073G>A	ENST00000306904.5	+	1	909	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACACCCACCGCGATTACGGC	0.662																																						uc001mfc.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(721-723)cGc>cAc		Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.							22	24	23					11																	7111073		2193	4277	6470	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111073G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.722G>A	11.37:g.7111073G>A	ENSP00000304139:p.Arg241His						p.R241H	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	909	+			241			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.722G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893755	0.33442	.	.	ENSG00000170748	ENST00000306904	T	0.79554	-1.28	3.08	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.65144	0.2663	N	0.19112	0.55	0.45704	D	0.998616	B	0.15473	0.013	B	0.10450	0.005	T	0.60419	-0.7267	10	0.52906	T	0.07	.	8.6182	0.33845	0.1218:0.0:0.8782:0.0	.	241	O75526	HNRGT_HUMAN	H	241	ENSP00000304139:R241H	ENSP00000304139:R241H	R	+	2	0	RBMXL2	7067649	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	4.475000	0.60210	0.856000	0.35383	-0.444000	0.05651	CGC		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		A	7111073	G	A	7111073	3	1	79	1	0	0	0	0	1	0	0	0	13154	1087	38	1	724	1	RBMXL2	11	7111073	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08		7111073	127895443	47	5320											
ABCC8	6833	broad.mit.edu	37	chr11	17419338	17419338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccacacatgcaccgaTgtactcctggggagggagag	11	5	14	11	1	0	1	0	0	0	1	1	5	1	2	3	3	3	3	3	3	1	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:17419338T>C	ENST00000389817.3	-	31	3828	c.3760A>G	c.(3760-3762)Atc>Gtc	p.I1254V	ABCC8_ENST00000302539.4_Missense_Mutation_p.I1255V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1254	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CATGCACCGATGTACTCCTGG	0.632																																						uc001mnc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3760-3762)Atc>Gtc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						80	76	78					11																	17419338		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17419338T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3760A>G	11.37:g.17419338T>C	ENSP00000374467:p.Ile1254Val						p.I1254V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	30	3886	-			1254			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3760A>G	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.268|3.268	-0.149787|-0.149787	0.06585|0.06585	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000528374|ENST00000389817;ENST00000302539	.|D;D	.|0.90620	.|-2.7;-2.7	5.18|5.18	5.18|5.18	0.71444|0.71444	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.|0.072865	.|0.64402	.|D	.|0.000013	T|T	0.82089|0.82089	0.4961|0.4961	N|N	0.20574|0.20574	0.59|0.59	0.50813|0.50813	D|D	0.999896|0.999896	.|B	.|0.13594	.|0.008	.|B	.|0.23150	.|0.044	T|T	0.75651|0.75651	-0.3244|-0.3244	5|10	.|0.02654	.|T	.|1	.|.	15.3143|15.3143	0.74062|0.74062	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1254	.|Q09428	.|ABCC8_HUMAN	R|V	77|1254;1255	.|ENSP00000374467:I1254V;ENSP00000303960:I1255V	.|ENSP00000303960:I1255V	H|I	-|-	2|1	0|0	ABCC8|ABCC8	17375914|17375914	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.913000|0.913000	0.54294|0.54294	3.940000|3.940000	0.56599|0.56599	2.085000|2.085000	0.62840|0.62840	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		C	17419338	T	C	17419338	3	2	79	1	0	0	0	0	1	0	0	0	58	1464	51	4	1021	4	ABCC8	11	17419338	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	10308265	17419338	117587178	48	5321											
MS4A14	84689	broad.mit.edu	37	chr11	60183620	60183620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagacacaccatcccaCgccatgccacctcaagacat	13	6	4	18	1	2	2	2	0	1	2	4	2	3	2	5	0	1	0	5	0	2	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:60183620C>T	ENST00000300187.6	+	5	1456	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Silent_p.H281H|MS4A14_ENST00000531783.1_Silent_p.H426H|MS4A14_ENST00000395005.2_Silent_p.H376H	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	393						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						caccatcccacgccatgccac	0.448																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1177-1179)caC>caT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							126	102	110					11																	60183620		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183620C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1179C>T	11.37:g.60183620C>T						MS4A14_uc001npi.3_Silent_p.H281H|MS4A14_uc001npn.3_Silent_p.H131H|MS4A14_uc001npk.3_Silent_p.H376H|MS4A14_uc001npl.3_Silent_p.H131H|MS4A14_uc001npm.3_Silent_p.H131H	p.H393H	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	1744	+			393					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1179C>T	CCDS31569.1																																																																																				0.448	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			T	60183620	C	T	60183620	2	4	79	1	0	0	0	0	0	0	0	1	9858	535	19	1		1	MS4A14	11	60183620	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	42764282	60183620	74822896	49	5322											
LRP5	4041	broad.mit.edu	37	chr11	68177525	68177525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacagaatcgaagtggcGcggctggacgggcagttccg	10	5	15	11	5	0	1	0	0	0	1	2	3	1	2	2	4	1	3	2	4	3	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:68177525G>A	ENST00000294304.7	+	10	2341	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	745	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGAAGTGGCGCGGCTGGACG	0.617																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2233-2235)gcG>gcA		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							92	73	80					11																	68177525		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68177525G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2235G>A	11.37:g.68177525G>A						LRP5_uc009ysg.3_Silent_p.A155A	p.A745A	NM_002335	NP_002326	O75197	LRP5_HUMAN			9	2310	+			745			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2235G>A	CCDS8181.1																																																																																				0.617	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68177525	G	A	68177525	2	1	79	1	0	0	0	0	0	0	0	1	8960	1074	38	1		1	LRP5	11	68177525	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	7993905	68177525	66828991	50	5323											
CBL	867	broad.mit.edu	37	chr11	119148932	119148932	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaactatgtaaaatatgTgctgaaaatgataaggatgt	16	13	8	4	0	0	2	0	2	0	0	1	3	1	3	1	1	2	2	1	1	8	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:119148932T>G	ENST00000264033.4	+	8	1528	c.1152T>G	c.(1150-1152)tgT>tgG	p.C384W		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	384	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.E369_D390del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTAAAATATGTGCTGAAAATG	0.353			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.3				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		17	Deletion - In frame(16)|Unknown(1)	p.E366_Q409del(26)|p.C384R(8)|p.C384Y(5)|p.E366_K477del(2)|p.E369_D390del(2)|p.E369_Q409del(2)|p.?(1)|p.K322_D460del(1)	haematopoietic_and_lymphoid_tissue(17)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1150-1152)tgT>tgG		Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.							96	90	92					11																	119148932		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119148932T>G	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1152T>G	11.37:g.119148932T>G	ENSP00000264033:p.Cys384Trp						p.C384W	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	7	1290	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	384			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1152T>G	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645668	0.47258	.	.	ENSG00000110395	ENST00000264033	D	0.96522	-4.04	5.52	4.4	0.53042	Zinc finger, RING-type (2);SH2 motif (1);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98098	1.0413	10	0.87932	D	0	-42.782	11.3624	0.49651	0.0:0.071:0.0:0.929	.	384	P22681	CBL_HUMAN	W	384	ENSP00000264033:C384W	ENSP00000264033:C384W	C	+	3	2	CBL	118654142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.575000	0.36493	1.042000	0.40150	0.455000	0.32223	TGT		0.353	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		G	119148932	T	G	119148932	3	3	79	1	0	0	0	0	1	0	0	0	2700	1702	59	5	1182	5	CBL	11	119148932	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	50971407	119148932	15857584	51	5324											
APOF	319	broad.mit.edu	37	chr12	56755294	56755294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccataggcccccctgaCatcccagccatggtcatcag	10	6	8	17	0	2	2	2	1	0	1	3	2	3	2	6	2	1	0	6	2	1	1	rs368571017		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:56755294C>A	ENST00000398189.3	-	2	773	c.696G>T	c.(694-696)atG>atT	p.M232I	STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000314128.4_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.M214I	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	232					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCCCTGACATCCCAGCCA	0.517																																						uc001sle.1																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(694-696)atG>atT		Homo sapiens apolipoprotein F (APOF), mRNA.							69	70	70					12																	56755294		1946	4146	6092	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755294C>A	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.696G>T	12.37:g.56755294C>A	ENSP00000381250:p.Met232Ile						p.M232I	NM_001638	NP_001629	Q13790	APOF_HUMAN			1	750	-			232					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.696G>T	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	C	8.926	0.962369	0.18583	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.40225	1.04;1.04	5.5	-0.0309	0.13912	.	2.209180	0.02514	N	0.091830	T	0.27241	0.0668	N	0.22421	0.69	0.09310	N	1	B	0.22480	0.07	B	0.15484	0.013	T	0.08827	-1.0703	10	0.23302	T	0.38	3.7802	4.3579	0.11187	0.1526:0.4442:0.0:0.4033	.	232	Q13790	APOF_HUMAN	I	232;214	ENSP00000381250:M232I;ENSP00000440997:M214I	ENSP00000381250:M232I	M	-	3	0	APOF	55041561	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.057000	0.14279	0.026000	0.15269	0.655000	0.94253	ATG		0.517	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			A	56755294	C	A	56755294	3	1	79	1	0	0	0	0	1	0	0	0	803	478	17	5	288	5	APOF	12	56755294	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		56755294	77096601	52	5325											
CAPS2	84698	broad.mit.edu	37	chr12	75678781	75678781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtattcattcatttcaccaAtaataccacgtttgaattct	12	17	3	9	1	4	1	3	1	1	0	4	1	4	1	2	0	1	2	2	0	5	8			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:75678781A>G	ENST00000409445.3	-	16	1728	c.1532T>C	c.(1531-1533)aTt>aCt	p.I511T	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Missense_Mutation_p.I101T|CAPS2_ENST00000393284.3_Missense_Mutation_p.I279T|CAPS2_ENST00000409799.1_Missense_Mutation_p.I429T	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	511	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTCACCAATAATACCACG	0.313																																						uc001sxl.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(1474-1476)aTt>aCt		Homo sapiens calcyphosine 2 (CAPS2), mRNA.							125	112	116					12																	75678781		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75678781A>G	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1532T>C	12.37:g.75678781A>G	ENSP00000386959:p.Ile511Thr					CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.4_Missense_Mutation_p.I247T|CAPS2_uc001sxj.4_Missense_Mutation_p.I422T|CAPS2_uc001sxk.4_Missense_Mutation_p.I511T	p.I492T	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			14	1504	-			511			EF-hand 2.		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1475T>C	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	A	10.51	1.369221	0.24771	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.24538	1.91;1.85;1.94;1.99	5.53	5.53	0.82687	EF-hand-like domain (1);	0.762104	0.12152	N	0.494724	T	0.25232	0.0613	L	0.47716	1.5	0.31855	N	0.621684	B;B;P;B;B	0.35401	0.009;0.059;0.499;0.049;0.027	B;B;B;B;B	0.33121	0.019;0.026;0.158;0.044;0.044	T	0.26744	-1.0094	10	0.52906	T	0.07	-3.5222	11.8892	0.52620	0.9298:0.0:0.0702:0.0	.	101;279;247;511;429	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	T	429;511;247;279;101	ENSP00000386977:I429T;ENSP00000386959:I511T;ENSP00000376963:I279T;ENSP00000389633:I101T	ENSP00000367975:I247T	I	-	2	0	CAPS2	73965048	0.973000	0.33851	0.921000	0.36526	0.528000	0.34623	2.420000	0.44679	2.224000	0.72417	0.528000	0.53228	ATT		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			G	75678781	A	G	75678781	3	3	79	1	0	0	0	0	1	0	0	0	2638	101	4	4	153	4	CAPS2	12	75678781	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	18923487	75678781	58173114	53	5326											
TDG	6996	broad.mit.edu	37	chr12	104378553	104378553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttatgccatcatccagTgcaagatgtgctcagtttcc	9	14	8	10	0	2	1	2	0	0	1	4	1	4	1	3	0	3	4	3	0	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:104378553T>A	ENST00000392872.3	+	8	1053	c.819T>A	c.(817-819)agT>agA	p.S273R	TDG_ENST00000266775.9_Missense_Mutation_p.S269R|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.S69R|TDG_ENST00000544861.1_Missense_Mutation_p.S130R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	273					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CATCATCCAGTGCAAGATGTG	0.338								Base excision repair (BER), DNA glycosylases																														uc001tkg.3																			0		p.S273I(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(817-819)agT>agA	Base excision repair (BER), DNA glycosylases	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.							82	70	74					12																	104378553		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104378553T>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.819T>A	12.37:g.104378553T>A	ENSP00000376611:p.Ser273Arg					TDG_uc009zuk.3_Missense_Mutation_p.S269R|TDG_uc010swi.2_Missense_Mutation_p.S130R|TDG_uc010swj.2_Missense_Mutation_p.S61R	p.S273R	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	1042	+			273					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.819T>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173359	0.78452	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.99	0.968	0.19680	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85094	0.0953	10	0.87932	D	0	-24.389	9.6756	0.40039	0.0:0.2583:0.0:0.7417	.	69;273;273	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	273;269;130;69	ENSP00000376611:S273R;ENSP00000266775:S269R;ENSP00000445899:S130R;ENSP00000439054:S69R	ENSP00000266775:S269R	S	+	3	2	TDG	102902683	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	0.799000	0.27028	-0.059000	0.13154	0.533000	0.62120	AGT		0.338	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104378553	T	A	104378553	3	1	79	1	0	0	0	0	1	0	0	0	15722	1693	59	5	849	5	TDG	12	104378553	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	28699772	104378553	29473342	54	5327											
TMEM132D	121256	broad.mit.edu	37	chr12	129558525	129558525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcctcgctactcatcacGatggagttcctggtggggta	7	12	11	11	2	3	0	3	0	0	0	6	2	5	1	2	4	1	3	2	4	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:129558525G>A	ENST00000422113.2	-	9	3521	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_ENST00000389441.4_Silent_p.I603I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1065					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3193-3195)atC>atT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							167	160	162					12																	129558525		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558525G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3195C>T	12.37:g.129558525G>A						TMEM132D_uc001uia.2_Silent_p.I603I	p.I1065I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	3523	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1065					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.3195C>T	CCDS9266.1																																																																																				0.517	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129558525	G	A	129558525	2	1	79	1	0	0	0	0	0	0	0	1	16044	1048	37	2		2	TMEM132D	12	129558525	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	25179972	129558525	4293370	55	5328											
EFNB2	1948	broad.mit.edu	37	chr13	107187195	107187195	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggacgccacttacttggAgttcgaggaattccaataga	11	9	11	10	4	0	1	0	0	0	1	2	5	1	4	2	3	1	1	2	3	4	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:107187195A>C	ENST00000245323.4	-	1	267	c.118T>G	c.(118-120)Tcc>Gcc	p.S40A		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	40	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACTTACTTGGAGTTCGAGGAA	0.597																																						uc001vqi.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(118-120)Tcc>Gcc		Homo sapiens ephrin-B2 (EFNB2), mRNA.							56	59	58					13																	107187195		2202	4300	6502	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107187195A>C	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.118T>G	13.37:g.107187195A>C	ENSP00000245323:p.Ser40Ala						p.S40A	NM_004093	NP_004084	P52799	EFNB2_HUMAN			0	194	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		40					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.118T>G	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	A	9.144	1.014694	0.19355	.	.	ENSG00000125266	ENST00000245323	D	0.93307	-3.2	4.5	3.33	0.38152	Cupredoxin (2);	0.277254	0.41001	D	0.000972	D	0.85474	0.5705	L	0.27053	0.805	0.37468	D	0.915503	B	0.02656	0.0	B	0.08055	0.003	T	0.81284	-0.1002	10	0.49607	T	0.09	.	4.2067	0.10491	0.6412:0.19:0.1688:0.0	.	40	P52799	EFNB2_HUMAN	A	40	ENSP00000245323:S40A	ENSP00000245323:S40A	S	-	1	0	EFNB2	105985196	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.643000	0.37217	1.680000	0.50976	0.374000	0.22700	TCC		0.597	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		C	107187195	A	C	107187195	3	2	79	1	0	0	0	0	1	0	0	0	4956	304	11	5	903	5	EFNB2	13	107187195	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		107187195	7982683	56	5329											
COL4A2	1284	broad.mit.edu	37	chr13	111134945	111134945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttccagggagcaaaggCgaggctggatttttcggaat	9	10	16	6	2	0	0	0	0	0	0	2	4	1	3	1	6	1	3	1	6	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:111134945C>T	ENST00000360467.5	+	32	3147	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	947	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCAAAGGCGAGGCTGGAT	0.527																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2839-2841)ggC>ggT		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							117	120	119					13																	111134945		1892	4099	5991	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111134945C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2841C>T	13.37:g.111134945C>T							p.G947G	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		31	3130	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	947			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.2841C>T	CCDS41907.1																																																																																				0.527	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		T	111134945	C	T	111134945	2	4	79	1	0	0	0	0	0	0	0	1	3690	755	27	1		1	COL4A2	13	111134945	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	3947750	111134945	4034933	57	5330											
KLHL28	54813	broad.mit.edu	37	chr14	45415013	45415013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttaacatcacctactCgaagaatgatgtcacagagt	15	11	7	8	1	2	3	2	1	0	2	3	5	2	3	1	0	2	0	1	0	5	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:45415013C>A	ENST00000396128.4	-	2	238	c.119G>T	c.(118-120)cGa>cTa	p.R40L	KLHL28_ENST00000355081.2_Missense_Mutation_p.R54L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	40	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTACTCGAAGAATGAT	0.428																																						uc001wvq.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(118-120)cGa>cTa		Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.							96	87	90					14																	45415013		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45415013C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.119G>T	14.37:g.45415013C>A	ENSP00000379434:p.Arg40Leu					KLHL28_uc001wvr.3_Missense_Mutation_p.R40L|KLHL28_uc001wvt.4_Missense_Mutation_p.R40L	p.R40L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			1	365	-			40			BTB.		Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.119G>T	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144408	0.37825	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500;ENST00000556239;ENST00000557468	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;2.07	5.51	5.51	0.81932	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.057401	0.64402	D	0.000001	T	0.43277	0.1240	N	0.13043	0.29	0.48696	D	0.999696	B;B	0.31625	0.003;0.332	B;B	0.26969	0.017;0.075	T	0.41662	-0.9496	10	0.40728	T	0.16	.	12.7196	0.57134	0.0:0.9239:0.0:0.0761	.	40;40	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	L	40;54;40;40;40	ENSP00000379434:R40L;ENSP00000347193:R54L;ENSP00000452061:R40L;ENSP00000452591:R40L;ENSP00000450788:R40L	ENSP00000347193:R54L	R	-	2	0	KLHL28	44484763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.756000	0.94617	0.655000	0.94253	CGA		0.428	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			A	45415013	C	A	45415013	3	1	79	1	0	0	0	0	1	0	0	0	8382	884	31	5	1612	5	KLHL28	14	45415013	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		45415013	61934527	58	5331											
DLGAP5	9787	broad.mit.edu	37	chr14	55650334	55650334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaagaaaacaaggcatatCaggtctataacgacccactt	18	8	6	9	1	2	1	1	0	1	1	2	2	2	1	1	2	2	1	1	2	8	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:55650334C>G	ENST00000247191.2	-	3	592	c.376G>C	c.(376-378)Gat>Cat	p.D126H	DLGAP5_ENST00000395425.2_Missense_Mutation_p.D126H	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	126					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGGCATATCAGGTCTATAA	0.323																																						uc001xbs.3																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(376-378)Gat>Cat		Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.							104	96	99					14																	55650334		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55650334C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.376G>C	14.37:g.55650334C>G	ENSP00000247191:p.Asp126His					DLGAP5_uc001xbt.3_Missense_Mutation_p.D126H	p.D126H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			2	593	-			126					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.376G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374899	0.61735	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.17054	2.3;2.3;2.3	5.02	5.02	0.67125	.	0.333792	0.34676	N	0.003768	T	0.30448	0.0765	L	0.59436	1.845	0.29234	N	0.873056	D;D	0.71674	0.998;0.995	P;P	0.55785	0.784;0.72	T	0.07252	-1.0782	10	0.62326	D	0.03	.	13.2482	0.60036	0.0:0.9212:0.0:0.0788	.	126;126	A8MTM6;Q15398	.;DLGP5_HUMAN	H	126	ENSP00000378815:D126H;ENSP00000247191:D126H;ENSP00000451747:D126H	ENSP00000247191:D126H	D	-	1	0	DLGAP5	54720087	0.101000	0.21875	0.924000	0.36721	0.614000	0.37383	2.044000	0.41241	2.780000	0.95670	0.655000	0.94253	GAT		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		G	55650334	C	G	55650334	3	3	79	1	0	0	0	0	1	0	0	0	4563	826	29	5	2327	5	DLGAP5	14	55650334	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	10235321	55650334	51699206	59	5332											
KCNK10	54207	broad.mit.edu	37	chr14	88654322	88654322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctacctcttcttttgTctttttggacagaacccgta	6	16	8	11	1	3	1	0	0	3	1	4	2	4	2	3	2	2	1	3	2	3	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:88654322T>C	ENST00000340700.5	-	6	1436	c.985A>G	c.(985-987)Aca>Gca	p.T329A	KCNK10_ENST00000312350.5_Missense_Mutation_p.T334A|KCNK10_ENST00000319231.5_Missense_Mutation_p.T334A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	329					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTCTTTTGTCTTTTTGGAC	0.493																																						uc001xwm.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1000-1002)Aca>Gca		Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.							143	144	144					14																	88654322		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654322T>C	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.985A>G	14.37:g.88654322T>C	ENSP00000343104:p.Thr329Ala					KCNK10_uc001xwn.3_Missense_Mutation_p.T334A|KCNK10_uc001xwo.3_Missense_Mutation_p.T329A	p.T334A	NM_138318	NP_612191	P57789	KCNKA_HUMAN			5	1122	-			329					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1000A>G	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651670	0.88056	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.22336	1.96;1.96;1.96	5.82	5.82	0.92795	.	0.044975	0.85682	D	0.000000	T	0.42314	0.1197	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.97	D;D;D	0.85130	0.997;0.995;0.955	T	0.12837	-1.0532	10	0.44086	T	0.13	.	15.3589	0.74453	0.0:0.0:0.0:1.0	.	329;334;334	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	A	329;334;334	ENSP00000343104:T329A;ENSP00000310568:T334A;ENSP00000312811:T334A	ENSP00000310568:T334A	T	-	1	0	KCNK10	87724075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.015000	0.88690	2.225000	0.72522	0.459000	0.35465	ACA		0.493	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		C	88654322	T	C	88654322	3	2	79	1	0	0	0	0	1	0	0	0	8059	1667	58	4	639	4	KCNK10	14	88654322	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	33003988	88654322	18695218	60	5333											
C15orf52	388115	broad.mit.edu	37	chr15	40629935	40629935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccacccacgtggacttggCcttgtccaggtcccacgggc	6	7	12	16	2	0	0	0	0	0	0	2	1	2	1	5	4	1	0	5	4	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:40629935C>T	ENST00000559313.1	-	6	820	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_Missense_Mutation_p.A59T	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	269							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTGGACTTGGCCTTGTCCAGG	0.701																																						uc001zlh.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(805-807)Gcc>Acc		Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.							29	29	29					15																	40629935		2202	4294	6496	SO:0001583	missense	388115							g.chr15:40629935C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.805G>A	15.37:g.40629935C>T	ENSP00000453969:p.Ala269Thr					C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.2_Missense_Mutation_p.A59T	p.A269T	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	821	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	269					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.805G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718088	0.48622	.	.	ENSG00000188549	ENST00000382688;ENST00000397536;ENST00000397535	T	0.39056	1.1	4.63	2.54	0.30619	.	0.395274	0.21891	N	0.067583	T	0.41351	0.1155	L	0.37897	1.145	0.30487	N	0.771749	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.973;0.96	T	0.44467	-0.9326	10	0.05436	T	0.98	-8.2934	4.3732	0.11258	0.2844:0.5946:0.0:0.121	.	59;201;269	Q6ZUT6-2;Q6ZUT6-3;Q6ZUT6	.;.;CO052_HUMAN	T	269;59;201	ENSP00000380670:A59T	ENSP00000372135:A269T	A	-	1	0	C15orf52	38417227	0.998000	0.40836	1.000000	0.80357	0.019000	0.09904	0.274000	0.18680	0.927000	0.37143	0.563000	0.77884	GCC		0.701	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		T	40629935	C	T	40629935	3	4	79	1	0	0	0	0	1	0	0	0	1800	739	26	3	823	3	C15orf52	15	40629935	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		40629935	61901457	61	5334											
CYP11A1	1583	broad.mit.edu	37	chr15	74636252	74636252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggaacatctggtagatgGcatcaatgaatcgctgggcc	10	10	13	8	1	2	2	1	1	1	1	3	3	2	3	1	4	1	3	1	4	4	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:74636252G>A	ENST00000268053.6	-	4	861	c.707C>T	c.(706-708)gCc>gTc	p.A236V	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A78V|CYP11A1_ENST00000358632.4_Missense_Mutation_p.A78V	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	236					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGGTAGATGGCATCAATGAA	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(706-708)gCc>gTc		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						155	144	147					15																	74636252		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636252G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.707C>T	15.37:g.74636252G>A	ENSP00000268053:p.Ala236Val					CYP11A1_uc002axs.2_Missense_Mutation_p.A78V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A78V|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.A16V	p.A236V	NM_000781	NP_001093243	P05108	CP11A_HUMAN			3	862	-			236					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.707C>T	CCDS32291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.584835|2.584835	0.46110|0.46110	.|.	.|.	ENSG00000140459|ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547|ENST00000452422	T;T;T|.	0.69561|.	-0.41;-0.41;-0.41|.	4.33|4.33	4.33|4.33	0.51752|0.51752	.|.	0.173464|.	0.50627|.	D|.	0.000110|.	D|D	0.82499|0.82499	0.5050|0.5050	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77004|.	0.986;0.989|.	D|D	0.86862|0.86862	0.2030|0.2030	10|6	0.72032|0.87932	D|D	0.01|0	-19.9112|-19.9112	16.4872|16.4872	0.84188|0.84188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	206;236|.	B4DTE5;P05108|.	.;CP11A_HUMAN|.	V|S	236;78;78;148|2	ENSP00000268053:A236V;ENSP00000351455:A78V;ENSP00000405488:A78V|.	ENSP00000268053:A236V|ENSP00000391041:P2S	A|P	-|-	2|1	0|0	CYP11A1|CYP11A1	72423305|72423305	1.000000|1.000000	0.71417|0.71417	0.063000|0.063000	0.19743|0.19743	0.018000|0.018000	0.09664|0.09664	5.346000|5.346000	0.65992|0.65992	1.987000|1.987000	0.57996|0.57996	0.537000|0.537000	0.68136|0.68136	GCC|CCA		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			A	74636252	G	A	74636252	3	1	79	1	0	0	0	0	1	0	0	0	4144	1203	42	3	882	3	CYP11A1	15	74636252	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	34006317	74636252	27895140	62	5335											
HAPLN3	145864	broad.mit.edu	37	chr15	89421300	89421300	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcccacagttaggatgCgggtgaaccacagggtagcg	9	5	18	9	2	0	1	0	1	0	0	0	2	0	2	2	5	3	2	2	5	3	2	rs528539488		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:89421300C>T	ENST00000359595.3	-	5	1198	c.984G>A	c.(982-984)ccG>ccA	p.P328P	HAPLN3_ENST00000562889.1_Silent_p.P390P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	328	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AGTTAGGATGCGGGTGAACCA	0.642																																						uc002bnd.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(1168-1170)ccG>ccA		Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.							73	79	76					15																	89421300		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421300C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.984G>A	15.37:g.89421300C>T						HAPLN3_uc002bnc.3_Silent_p.P328P|HAPLN3_uc002bne.3_Non-coding_Transcript	p.P390P	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			5	1251	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		328					A8K7P0	Silent	SNP	ENST00000359595.3	37	c.1170G>A	CCDS10346.1																																																																																				0.642	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		T	89421300	C	T	89421300	2	4	79	1	0	0	0	0	0	0	0	1	6956	755	27	1		1	HAPLN3	15	89421300	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	14785048	89421300	13110092	63	5336											
CASKIN1	57524	broad.mit.edu	37	chr16	2231462	2231462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggtgtgggctcaggcGggggcggcgactcgatggcc	3	5	21	12	6	1	0	1	0	0	0	2	2	1	0	2	8	0	1	2	8	0	0	rs370499776	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:2231462G>A	ENST00000343516.6	-	18	1999	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	636					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGCTCAGGCGGGGGCGGCGA	0.657													G|||	2	0.000399361	0	0	5008	,	,		9755	0		0	False		,,,				2504	0.002					uc010bsg.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1906-1908)cCg>cTg		Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.		G	LEU/PRO	1,3943		0,1,1971	16	23	21		1907	3.5	0	16		21	0,8298		0,0,4149	no	missense	CASKIN1	NM_020764.3	98	0,1,6120	AA,AG,GG		0.0,0.0254,0.0082	benign	636/1432	2231462	1,12241	1972	4149	6121	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2231462G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1907C>T	16.37:g.2231462G>A	ENSP00000345436:p.Pro636Leu						p.P636L	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			17	1939	-			636					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1907C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	3.167	-0.170883	0.06421	2.54E-4	0.0	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.67345	-0.26	4.42	3.46	0.39613	.	.	.	.	.	T	0.54367	0.1854	L	0.47716	1.5	0.35275	D	0.780846	B	0.28667	0.219	B	0.13407	0.009	T	0.61637	-0.7022	9	0.52906	T	0.07	-7.9325	7.9964	0.30271	0.1899:0.0:0.8101:0.0	.	636	Q8WXD9	CSKI1_HUMAN	L	636;465	ENSP00000345436:P636L	ENSP00000345436:P636L	P	-	2	0	CASKIN1	2171463	0.999000	0.42202	0.019000	0.16419	0.012000	0.07955	2.963000	0.49184	1.078000	0.41014	-0.291000	0.09656	CCG		0.657	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		A	2231462	G	A	2231462	3	1	79	1	0	0	0	0	1	0	0	0	2666	1116	39	2	2400	2	CASKIN1	16	2231462	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08		2231462	88123291	64	5337											
DNAH3	55567	broad.mit.edu	37	chr16	21080807	21080807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcttctggcatctgggCtatgatgtcctctgaactga	6	13	9	13	0	4	3	0	3	4	0	5	3	5	3	3	2	1	2	3	2	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:21080807C>T	ENST00000261383.3	-	23	3309	c.3310G>A	c.(3310-3312)Gcc>Acc	p.A1104T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1104T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1104	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATCTGGGCTATGATGTCC	0.428																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3310-3312)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							184	156	165					16																	21080807		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080807C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3310G>A	16.37:g.21080807C>T	ENSP00000261383:p.Ala1104Thr						p.A1104T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3310	-			1104			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3310G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882231	0.72294	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61158	0.13;0.13	5.15	5.15	0.70609	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76767	-0.2838	10	0.51188	T	0.08	.	18.9997	0.92828	0.0:1.0:0.0:0.0	.	1104	Q8TD57	DYH3_HUMAN	T	1104	ENSP00000261383:A1104T;ENSP00000394245:A1104T	ENSP00000261383:A1104T	A	-	1	0	DNAH3	20988308	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	1.991000	0.40727	2.580000	0.87095	0.655000	0.94253	GCC		0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21080807	C	T	21080807	3	4	79	1	0	0	0	0	1	0	0	0	4603	797	28	3	9199	3	DNAH3	16	21080807	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	18849345	21080807	69273946	65	5338											
ITGAX	3687	broad.mit.edu	37	chr16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctcgaccctggccGcctgagtccccgtgccacct	3	7	10	21	3	0	1	0	1	0	0	2	2	1	1	9	2	1	0	9	2	0	0	rs146647978	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:31382999G>A	ENST00000268296.4	+	17	2175	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R685H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	685					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R685H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607																																						uc002ebt.3																			2	Substitution - Missense(2)	p.R685H(4)|p.R685C(2)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2053-2055)cGc>cAc		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							66	64	65					16																	31382999		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382999G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2054G>A	16.37:g.31382999G>A	ENSP00000268296:p.Arg685His					ITGAX_uc002ebu.1_Missense_Mutation_p.R685H	p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN			16	2121	+			685					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2054G>A	CCDS10711.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.7	4.035621	0.75617	.	.	ENSG00000140678	ENST00000268296	T	0.51574	0.7	5.4	4.45	0.53987	Integrin alpha-2 (1);	.	.	.	.	T	0.66386	0.2784	M	0.81802	2.56	0.39690	D	0.971037	D	0.89917	1.0	D	0.67725	0.953	T	0.72100	-0.4392	9	0.87932	D	0	.	10.3716	0.44058	0.0907:0.0:0.9093:0.0	.	685	P20702	ITAX_HUMAN	H	685	ENSP00000268296:R685H	ENSP00000268296:R685H	R	+	2	0	ITGAX	31290500	0.995000	0.38212	0.900000	0.35374	0.705000	0.40729	1.722000	0.38042	1.396000	0.46663	0.655000	0.94253	CGC		0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31382999	G	A	31382999	3	1	79	1	0	0	0	0	1	0	0	0	7889	1087	38	1	2120	1	ITGAX	16	31382999	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	10302192	31382999	58971754	66	5339											
PDP2	57546	broad.mit.edu	37	chr16	66918530	66918530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtttgagagcaaccagctgGctgccaattccccagtggag	9	8	13	11	0	0	1	0	1	0	1	1	3	1	2	4	3	4	4	4	3	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:66918530G>A	ENST00000311765.2	+	2	677	c.343G>A	c.(343-345)Gct>Act	p.A115T	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	115					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAACCAGCTGGCTGCCAATTC	0.522																																						uc021tjw.1																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(343-345)Gct>Act		Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.							81	67	72					16																	66918530		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918530G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.343G>A	16.37:g.66918530G>A	ENSP00000309548:p.Ala115Thr					PDP2_uc002eqk.2_Missense_Mutation_p.A115T	p.A115T	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	0	343	+		Ovarian(137;0.0563)	115					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.343G>A	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069568	0.76301	.	.	ENSG00000172840	ENST00000311765	T	0.53206	0.63	5.62	4.66	0.58398	Protein phosphatase 2C-like (3);	0.118823	0.56097	D	0.000029	T	0.69242	0.3089	M	0.80616	2.505	0.49915	D	0.999832	D	0.71674	0.998	D	0.67900	0.954	T	0.74275	-0.3718	10	0.54805	T	0.06	-8.8588	16.3453	0.83126	0.0:0.0:0.867:0.133	.	115	Q9P2J9	PDP2_HUMAN	T	115	ENSP00000309548:A115T	ENSP00000309548:A115T	A	+	1	0	PDP2	65476031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.376000	0.52417	1.513000	0.48852	0.650000	0.86243	GCT		0.522	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		A	66918530	G	A	66918530	3	1	79	1	0	0	0	0	1	0	0	0	11686	1203	42	3	345	3	PDP2	16	66918530	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	35535531	66918530	23436223	67	5340											
NF1	4763	broad.mit.edu	37	chr17	29541476	29541476	+	Frame_Shift_Del	DEL	C	C	-																															gttttgtttttagagtcttaCatttaaagaaaaagtaacaa																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29541476delC	ENST00000358273.4	+	13	1783	c.1400delC	c.(1399-1401)acafs	p.T467fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.T467fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.T467fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	467					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAGTCTTACATTTAAAGAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1399-1401)acafs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							24	25	25					17																	29541476		2178	4270	6448	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29541476delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1400delC	17.37:g.29541476delC	ENSP00000351015:p.Thr467fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T467fs|NF1_uc010csn.2_Frame_Shift_Del_p.T327fs	p.T467fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	12	1783	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	467					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1400delC	CCDS42292.1																																																																																				0.289	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29541476	C	-	29541476	7	5	79	1	0	1	0	1	0	0	0	0	10356	478	17	0	1450	0	NF1	17	29541476	Frame_Shift_Del	DEL	C	TCGA-06-2562-01A-01D-1494-08		29541476	51653734	68	5341											
NF1	4763	broad.mit.edu	37	chr17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aatcgctttaaaacagacttTctctctaagtggtttgttgt																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29652976_29652979delTCTC	ENST00000358273.4	+	37	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.FL1658fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.FL1637fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)	p.0?(8)|p.?(3)|p.S1660fs*37(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD972357	NF1	D		c.(4972-4977)tttctcfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652976_29652979delTCTC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4974_4977delTCTC	17.37:g.29652976_29652979delTCTC	ENSP00000351015:p.Phe1658fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	p.F1658fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	36	5357_5360	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1658			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4974_4977delTCTC	CCDS42292.1																																																																																				0.422	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29652979	TCTC	-	29652976	7	5	79	1	0	1	0	1	0	0	0	0	10356	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-06-2562-01A-01D-1494-08	111500	29652976	51542234	69	5342											
RNF43	54894	broad.mit.edu	37	chr17	56435337	56435337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgctgagttggaTctggtgacttgctgatcagg	7	11	17	6	0	2	3	1	3	1	0	2	5	2	4	0	5	2	4	0	5	1	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:56435337T>G	ENST00000584437.1	-	8	3755	c.1800A>C	c.(1798-1800)agA>agC	p.R600S	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.R559S|RNF43_ENST00000583753.1_Missense_Mutation_p.R559S|RNF43_ENST00000577716.1_Missense_Mutation_p.R600S|RNF43_ENST00000407977.2_Missense_Mutation_p.R600S|RNF43_ENST00000581868.1_Missense_Mutation_p.R473S|RNF43_ENST00000577625.1_Missense_Mutation_p.R473S			Q68DV7	RNF43_HUMAN	ring finger protein 43	600	Pro-rich.			R -> G (in Ref. 1; BAD51435 and 2; BAA91085). {ECO:0000305}.	negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTGGATCTGGTGACTT	0.657																																						uc002iwf.3																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1798-1800)agA>agC		Homo sapiens ring finger protein 43 (RNF43), mRNA.							59	72	68					17																	56435337		2202	4299	6501	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435337T>G		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1800A>C	17.37:g.56435337T>G	ENSP00000463069:p.Arg600Ser					RNF43_uc010wnv.2_Missense_Mutation_p.R559S|RNF43_uc002iwh.4_Missense_Mutation_p.R600S|RNF43_uc002iwg.4_Missense_Mutation_p.R600S|RNF43_uc010dcw.3_Missense_Mutation_p.R473S	p.R600S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			7	3756	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		600	R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1800A>C	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	8.127	0.782124	0.16189	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.18502	2.21;2.21	5.18	-1.43	0.08884	.	0.943107	0.08839	N	0.886122	T	0.10252	0.0251	N	0.24115	0.695	0.09310	N	1	B;B;B	0.24426	0.058;0.103;0.02	B;B;B	0.28011	0.04;0.085;0.018	T	0.41627	-0.9498	10	0.27082	T	0.32	-13.166	5.1961	0.15239	0.0:0.4158:0.1732:0.411	.	559;600;600	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	S	600;559	ENSP00000385328:R600S;ENSP00000441969:R559S	ENSP00000385328:R600S	R	-	3	2	RNF43	53790336	0.016000	0.18221	0.000000	0.03702	0.142000	0.21351	-0.113000	0.10774	-0.228000	0.09869	0.172000	0.16884	AGA		0.657	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		G	56435337	T	G	56435337	3	3	79	1	0	0	0	0	1	0	0	0	13495	1432	50	5	559	5	RNF43	17	56435337	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	26782361	56435337	24759873	70	5343											
RGS9	8787	broad.mit.edu	37	chr17	63173876	63173876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggacaatgtgctggactaCggcctggaccgagtgaccaa	11	7	13	10	2	0	1	0	1	0	0	0	5	0	4	3	4	2	1	3	4	3	1	rs61739619	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:63173876C>T	ENST00000262406.9	+	9	676	c.609C>T	c.(607-609)taC>taT	p.Y203Y	RGS9_ENST00000449996.3_Silent_p.Y203Y|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.Y203Y	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	203					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCTGGACTACGGCCTGGACC	0.488													C|||	9	0.00179712	0.0038	0.0014	5008	,	,		24022	0		0	False		,,,				2504	0.0031					uc002jfe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(607-609)taC>taT		Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.		C	,,	8,3910		0,8,1951	224	218	220		609,609,609	-6	0.8	17	dbSNP_129	220	0,8312		0,0,4156	no	coding-synonymous,coding-synonymous,coding-synonymous	RGS9	NM_001081955.2,NM_001165933.1,NM_003835.3	,,	0,8,6107	TT,TC,CC		0.0,0.2042,0.0654	,,	203/672,203/485,203/675	63173876	8,12222	1959	4156	6115	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63173876C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.609C>T	17.37:g.63173876C>T						RGS9_uc021ubw.1_Silent_p.Y203Y|RGS9_uc010dem.3_Silent_p.Y203Y|RGS9_uc002jfd.3_Silent_p.Y203Y	p.Y203Y	NM_003835	NP_003826	O75916	RGS9_HUMAN			8	812	+			203					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.609C>T	CCDS42373.1																																																																																				0.488	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		T	63173876	C	T	63173876	2	4	79	1	0	0	0	0	0	0	0	1	13313	547	19	1		1	RGS9	17	63173876	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	6738539	63173876	18021334	71	5344											
CDH7	1005	broad.mit.edu	37	chr18	63489429	63489429	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactgtcaggaactacAtcagtcactgtgaccctaac	12	8	10	11	0	3	1	3	1	0	0	3	4	3	4	1	3	3	0	1	3	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:63489429A>G	ENST00000397968.2	+	5	1164	c.738A>G	c.(736-738)acA>acG	p.T246T	CDH7_ENST00000536984.2_Silent_p.T246T|CDH7_ENST00000323011.3_Silent_p.T246T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGAACTACATCAGTCACTG	0.433																																						uc002lkb.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(736-738)acA>acG		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.							177	126	144					18																	63489429		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63489429A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.738A>G	18.37:g.63489429A>G						CDH7_uc002ljz.3_Silent_p.T246T|CDH7_uc002lka.3_Silent_p.T246T	p.T246T	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN			4	1164	+		Esophageal squamous(42;0.129)	246			Cadherin 2.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.738A>G	CCDS11993.1																																																																																				0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		G	63489429	A	G	63489429	2	3	79	1	0	0	0	0	0	0	0	1	3115	204	8	4		4	CDH7	18	63489429	Silent	SNP	A	TCGA-06-2562-01A-01D-1494-08		63489429	14587819	72	5345											
ZNF407	55628	broad.mit.edu	37	chr18	72775604	72775604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagattttaaacctctCggaggctggagtcgctcccc	8	9	12	12	2	1	1	0	0	1	1	4	4	2	3	3	4	1	3	3	4	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:72775604C>T	ENST00000299687.5	+	8	5927	c.5927C>T	c.(5926-5928)tCg>tTg	p.S1976L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1976					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAAACCTCTCGGAGGCTGGA	0.617																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5926-5928)tCg>tTg		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							14	18	16					18																	72775604		2056	4188	6244	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775604C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5927C>T	18.37:g.72775604C>T	ENSP00000299687:p.Ser1976Leu						p.S1976L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	7	5980	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1976					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5927C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	7.296	0.611978	0.14066	.	.	ENSG00000215421	ENST00000299687	T	0.11169	2.8	4.73	2.88	0.33553	.	.	.	.	.	T	0.08179	0.0204	L	0.40543	1.245	0.43508	D	0.99576	P	0.44659	0.84	B	0.25614	0.062	T	0.11542	-1.0583	9	0.72032	D	0.01	.	14.5628	0.68153	0.0:0.7208:0.2792:0.0	.	1976	Q9C0G0	ZN407_HUMAN	L	1976	ENSP00000299687:S1976L	ENSP00000299687:S1976L	S	+	2	0	ZNF407	70904592	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.298000	0.19120	-1.999000	0.00967	-2.082000	0.00379	TCG		0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72775604	C	T	72775604	3	4	79	1	0	0	0	0	1	0	0	0	17884	893	31	2	6087	2	ZNF407	18	72775604	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	9286175	72775604	5301644	73	5346											
ZNF77	58492	broad.mit.edu	37	chr19	2933851	2933851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgcgtcctcacgtggAttcgaagggaggaggaaaaa	13	7	14	7	3	1	0	1	0	0	0	3	5	2	4	1	4	1	1	1	4	4	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:2933851A>G	ENST00000314531.4	-	4	1366	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACGTGGATTCGAAGGGA	0.502																																						uc002lws.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1273-1275)aTc>aCc		Homo sapiens zinc finger protein 77 (ZNF77), mRNA.							104	84	91					19																	2933851		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933851A>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1274T>C	19.37:g.2933851A>G	ENSP00000319053:p.Ile425Thr						p.I425T	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1405	-			425					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1274T>C	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	A	6.856	0.527183	0.13066	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.17528	2.27	2.97	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.16743	0.435	0.09310	N	1	B	0.16802	0.019	B	0.10450	0.005	T	0.42464	-0.9450	9	0.11182	T	0.66	.	3.7652	0.08620	0.2531:0.2622:0.0:0.4847	.	425	Q15935	ZNF77_HUMAN	T	219;425	ENSP00000319053:I425T	ENSP00000319053:I425T	I	-	2	0	ZNF77	2884851	0.000000	0.05858	0.000000	0.03702	0.902000	0.53008	-6.272000	0.00073	-0.491000	0.06697	0.397000	0.26171	ATC		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		G	2933851	A	G	2933851	3	3	79	1	0	0	0	0	1	0	0	0	18139	333	12	4	367	4	ZNF77	19	2933851	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		2933851	56195132	74	5347											
MAG	4099	broad.mit.edu	37	chr19	35804318	35804318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagctacacgctgacGgaggagctagctgagtatgc	12	6	14	9	2	0	2	0	2	0	0	0	5	0	5	0	3	5	5	0	3	4	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:35804318G>A	ENST00000392213.3	+	11	2001	c.1842G>A	c.(1840-1842)acG>acA	p.T614T	MAG_ENST00000537831.2_Silent_p.T589T|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	614				T -> S (in Ref. 2). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACGCTGACGGAGGAGCTAG	0.657																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1840-1842)acG>acA		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							70	59	63					19																	35804318		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804318G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1842G>A	19.37:g.35804318G>A						MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Silent_p.T589T|MAG_uc002nyz.2_Silent_p.T614T	p.T614T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		10	2040	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	614	T -> S (in Ref. 2).				B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1842G>A	CCDS12455.1																																																																																				0.657	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35804318	G	A	35804318	2	1	79	1	0	0	0	0	0	0	0	1	9162	1103	39	2		2	MAG	19	35804318	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	32870467	35804318	23324665	75	5348											
IL4I1	259307	broad.mit.edu	37	chr19	50392981	50392981	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataactggccttggacTggagggtggctgccttcttc	7	11	14	9	0	1	1	0	0	1	1	2	4	1	3	2	5	2	1	2	5	1	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:50392981T>G	ENST00000391826.2	-	8	1792	c.1650A>C	c.(1648-1650)ccA>ccC	p.P550P	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.P572P|IL4I1_ENST00000595948.1_Silent_p.P572P	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	550						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GGCCTTGGACTGGAGGGTGGC	0.602																																						uc002pqv.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1675-1677)ccA>ccC		Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.							123	120	121					19																	50392981		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50392981T>G	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1650A>C	19.37:g.50392981T>G						IL4I1_uc002pqt.1_Silent_p.P550P|IL4I1_uc021uxy.1_Silent_p.P572P|IL4I1_uc002pqu.2_Silent_p.P572P|IL4I1_uc010eno.2_Silent_p.P558P	p.P559P	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2506	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	550					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.1677A>C	CCDS12787.1																																																																																				0.602	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			G	50392981	T	G	50392981	2	3	79	1	0	0	0	0	0	0	0	1	7697	1567	55	5		5	IL4I1	19	50392981	Silent	SNP	T	TCGA-06-2562-01A-01D-1494-08	14588663	50392981	8736002	76	5349											
PLCB1	23236	broad.mit.edu	37	chr20	8628555	8628559	+	Frame_Shift_Del	DEL	AACTT	AACTT	-																															cttctccaacagctatactaAacttaagctgcaagtcactc																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:8628555_8628559delAACTT	ENST00000338037.6	+	6	500_504	c.473_477delAACTT	c.(472-477)aaacttfs	p.KL160fs	PLCB1_ENST00000378641.3_Frame_Shift_Del_p.KL160fs|PLCB1_ENST00000378637.2_Frame_Shift_Del_p.KL160fs	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	160					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCTATACTAAACTTAAGCTGCAAG	0.332																																						uc002wnb.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(472-477)aaacttfs		Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8628555_8628559delAACTT	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.473_477delAACTT	20.37:g.8628555_8628559delAACTT	ENSP00000338185:p.Lys160fs					PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs	p.K158fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			5	476_480	+			158					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Frame_Shift_Del	DEL	ENST00000338037.6	37	c.473_477delAACTT	CCDS13102.1																																																																																				0.332	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			-	8628559	AACTT	-	8628555	7	5	79	1	0	1	0	1	0	0	0	0	12027	14	1	0	495	0	PLCB1	20	8628555	Frame_Shift_Del	DEL	AACTT	TCGA-06-2562-01A-01D-1494-08		8628555	54396965	77	5350											
SSTR4	6754	broad.mit.edu	37	chr20	23016341	23016341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcttcgtgatccttcGctacgccaagatgaagacgg	9	10	11	11	4	2	4	1	2	1	2	5	4	3	4	2	2	1	1	2	2	3	3	rs201118880		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:23016341G>A	ENST00000255008.3	+	1	285	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	74					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGATCCTTCGCTACGCCAAG	0.642																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(220-222)cGc>cAc		Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.							123	130	128					20																	23016341		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016341G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.221G>A	20.37:g.23016341G>A	ENSP00000255008:p.Arg74His						p.R74H	NM_001052	NP_001043	P31391	SSR4_HUMAN			0	285	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		74					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.221G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632419	0.67015	.	.	ENSG00000132671	ENST00000255008	T	0.41065	1.01	3.73	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.103006	0.37857	U	0.001917	T	0.50922	0.1644	M	0.77313	2.365	0.39682	D	0.970911	P	0.42409	0.779	P	0.46940	0.532	T	0.58498	-0.7626	10	0.59425	D	0.04	.	11.9567	0.52984	0.0:0.1769:0.8231:0.0	.	74	P31391	SSR4_HUMAN	H	74	ENSP00000255008:R74H	ENSP00000255008:R74H	R	+	2	0	SSTR4	22964341	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	2.492000	0.45311	0.716000	0.32124	0.561000	0.74099	CGC		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			A	23016341	G	A	23016341	3	1	79	1	0	0	0	0	1	0	0	0	15199	1087	38	1	223	1	SSTR4	20	23016341	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	14387786	23016341	40009179	78	5351											
EIF2S2	8894	broad.mit.edu	37	chr20	32677582	32677582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcttgcccgtgacagccTggaagccggttttgatactg	6	11	12	12	3	0	2	0	2	0	0	1	3	0	3	3	2	4	2	3	2	2	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:32677582T>C	ENST00000374980.2	-	9	1177	c.956A>G	c.(955-957)cAg>cGg	p.Q319R		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	319					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CGTGACAGCCTGGAAGCCGGT	0.483																																						uc002xaf.3																			0		p.F318L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(955-957)cAg>cGg		Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.							98	83	88					20																	32677582		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677582T>C	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.956A>G	20.37:g.32677582T>C	ENSP00000364119:p.Gln319Arg						p.Q319R	NM_003908	NP_003899	P20042	IF2B_HUMAN			8	1125	-			319					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.956A>G	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874011	0.91664	.	.	ENSG00000125977	ENST00000374980	T	0.48522	0.81	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	M	0.69248	2.105	0.80722	D	1	D;P;P	0.58970	0.984;0.851;0.851	P;P;P	0.58391	0.808;0.838;0.838	T	0.66296	-0.5959	10	0.62326	D	0.03	-17.7924	16.8061	0.85666	0.0:0.0:0.0:1.0	.	319;319;319	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	R	319	ENSP00000364119:Q319R	ENSP00000364119:Q319R	Q	-	2	0	EIF2S2	32141243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.005000	0.88553	2.367000	0.80283	0.529000	0.55759	CAG		0.483	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		C	32677582	T	C	32677582	3	2	79	1	0	0	0	0	1	0	0	0	5010	1580	55	4	49	4	EIF2S2	20	32677582	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	9661241	32677582	30347938	79	5352											
SLC12A5	57468	broad.mit.edu	37	chr20	44673744	44673744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccccacgcctgctgcagGccatctcgagggatggcatt	6	7	14	14	2	1	0	0	0	1	0	2	2	1	1	4	4	2	3	4	4	0	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:44673744G>A	ENST00000454036.2	+	12	1652	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A512T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	535					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCTGCAGGCCATCTCGAG	0.632																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1603-1605)Gcc>Acc		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						76	77	76					20																	44673744		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673744G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1603G>A	20.37:g.44673744G>A	ENSP00000387694:p.Ala535Thr					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	p.A535T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			11	1679	+		Myeloproliferative disorder(115;0.0122)	535					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1603G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141654	0.94560	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.99051	-5.37;-5.37	4.32	4.32	0.51571	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.95950	3.745	0.80722	D	1	D;D	0.58620	0.983;0.978	P;P	0.58013	0.831;0.74	D	0.98450	1.0591	10	0.87932	D	0	.	15.5477	0.76118	0.0:0.0:1.0:0.0	.	535;512	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	T	535;512	ENSP00000387694:A535T;ENSP00000243964:A512T	ENSP00000243964:A512T	A	+	1	0	SLC12A5	44107151	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.257000	0.95545	2.225000	0.72522	0.313000	0.20887	GCC		0.632	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			A	44673744	G	A	44673744	3	1	79	1	0	0	0	0	1	0	0	0	14386	1203	42	3	1705	3	SLC12A5	20	44673744	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	11996162	44673744	18351776	80	5353											
TUBB1	81027	broad.mit.edu	37	chr20	57599544	57599544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcaaggtggctgtctgCgacatcccgccccgggggct	6	7	14	14	4	2	0	1	0	1	0	3	1	3	0	3	4	2	2	3	4	2	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:57599544C>T	ENST00000217133.1	+	4	1331	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	354					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGTCTGCGACATCCCGC	0.567																																						uc002yak.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(1060-1062)tgC>tgT		Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						54	52	53					20																	57599544		2203	4300	6503	SO:0001819	synonymous_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599544C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1062C>T	20.37:g.57599544C>T							p.C354C	NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		3	1331	+	all_lung(29;0.00711)		354						Silent	SNP	ENST00000217133.1	37	c.1062C>T	CCDS13475.1																																																																																				0.567	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		T	57599544	C	T	57599544	2	4	79	1	0	0	0	0	0	0	0	1	16750	776	27	1		1	TUBB1	20	57599544	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	12925800	57599544	5425976	81	5354											
DGCR8	54487	broad.mit.edu	37	chr22	20074008	20074008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtgacggggtaggcatAgggggtgagagtgctgataa	9	9	20	3	1	0	3	0	3	0	1	0	4	0	3	0	6	1	4	0	6	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:20074008A>G	ENST00000351989.3	+	2	951	c.522A>G	c.(520-522)atA>atG	p.I174M	DGCR8_ENST00000383024.2_Missense_Mutation_p.I174M|MIR3618_ENST00000580330.1_RNA|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.I174M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	174	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		I -> V (in dbSNP:rs35987994).		gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGTAGGCATAGGGGGTGAGA	0.552																																						uc002zri.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(520-522)atA>atG		Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.							138	131	133					22																	20074008		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074008A>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.522A>G	22.37:g.20074008A>G	ENSP00000263209:p.Ile174Met					DGCR8_uc010grz.3_Missense_Mutation_p.I174M|DGCR8_uc002zrj.3_5'Flank	p.I174M	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			1	951	+	Colorectal(54;0.0993)		174		I -> V (in dbSNP:rs35987994).	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.522A>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613509	0.28712	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.31247	1.5;1.5;1.5	5.42	4.36	0.52297	.	1.338760	0.04236	N	0.336176	T	0.20495	0.0493	N	0.14661	0.345	0.23889	N	0.996554	B;B	0.24483	0.104;0.018	B;B	0.20955	0.032;0.014	T	0.19614	-1.0300	10	0.40728	T	0.16	5.1326	5.3987	0.16283	0.761:0.0:0.0867:0.1524	.	174;174	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	M	174	ENSP00000263209:I174M;ENSP00000372488:I174M;ENSP00000384726:I174M	ENSP00000263209:I174M	I	+	3	3	DGCR8	18454008	1.000000	0.71417	0.902000	0.35471	0.987000	0.75469	3.490000	0.53245	1.067000	0.40740	0.402000	0.26972	ATA		0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			G	20074008	A	G	20074008	3	3	79	1	0	0	0	0	1	0	0	0	4464	410	15	4	524	4	DGCR8	22	20074008	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		20074008	31230558	82	5355											
LZTR1	8216	broad.mit.edu	37	chr22	21340179	21340179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtgaaagactgctccTggtgcaggtgggtggccccg	6	9	16	10	2	0	2	0	1	0	1	2	3	1	2	3	4	2	2	3	4	1	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:21340179T>C	ENST00000215739.8	+	3	672	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	LZTR1_ENST00000389355.3_Intron|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	105					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACTGCTCCTGGTGCAGGTG	0.582																																						uc002zto.3																			0		p.W105L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(313-315)Tgg>Cgg		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							87	68	75					22																	21340179		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21340179T>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.313T>C	22.37:g.21340179T>C	ENSP00000215739:p.Trp105Arg					LZTR1_uc002ztn.3_Missense_Mutation_p.W64R|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	p.W105R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	416	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	105					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.313T>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462558	0.84425	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.63096	-0.02	4.52	4.52	0.55395	.	0.145322	0.53938	D	0.000057	D	0.86552	0.5960	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.90878	0.4751	10	0.87932	D	0	-23.9298	12.1316	0.53946	0.0:0.0:0.0:1.0	.	105;64	Q8N653;F5GXU8	LZTR1_HUMAN;.	R	64;105	ENSP00000215739:W105R	ENSP00000215739:W105R	W	+	1	0	LZTR1	19670179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.669000	0.83911	2.036000	0.60181	0.523000	0.50628	TGG		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		C	21340179	T	C	21340179	3	2	79	1	0	0	0	0	1	0	0	0	9137	1580	55	4	323	4	LZTR1	22	21340179	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	1266171	21340179	29964387	83	5356											
EDA	1896	broad.mit.edu	37	chrX	69253319	69253319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttaagctacatcccCgcagcggggagctggaggta	9	8	15	9	2	0	0	0	0	0	0	1	2	1	2	2	5	4	5	2	5	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:69253319C>T	ENST00000374552.4	+	7	1107	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	EDA_ENST00000524573.1_Missense_Mutation_p.R286C|EDA_ENST00000374553.2_Missense_Mutation_p.R289C	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289			R -> C (in STHAGX1). {ECO:0000269|PubMed:19278982}.|R -> L (in STHAGX1). {ECO:0000269|PubMed:24487376}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGA	0.498											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(865-867)Cgc>Tgc		Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.							131	110	117					X																	69253319		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253319C>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.865C>T	X.37:g.69253319C>T	ENSP00000363680:p.Arg289Cys		OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc011mpj.2_Missense_Mutation_p.R286C|EDA_uc004dxr.3_Missense_Mutation_p.R289C	p.R289C	NM_001399	NP_001390	Q92838	EDA_HUMAN			6	1107	+			289					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.865C>T	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066381	0.93898	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.95001	-3.58;-3.53;-3.53	5.48	5.48	0.80851	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.987	D	0.97004	0.9731	10	0.87932	D	0	-10.4319	17.227	0.86973	0.0:1.0:0.0:0.0	.	286;289;289	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	C	289;289;286	ENSP00000363680:R289C;ENSP00000363681:R289C;ENSP00000432585:R286C	ENSP00000363680:R289C	R	+	1	0	EDA	69170044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.279000	0.76181	0.600000	0.82982	CGC		0.498	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		T	69253319	C	T	69253319	3	4	79	1	0	0	0	0	1	0	0	0	4903	652	23	2	1027	2	EDA	23	69253319	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		69253319	86017241	84	5357											
MCF2	4168	broad.mit.edu	37	chrX	138679647	138679647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttattgcaatctgatgcAtagaatcattaactgacttc	13	15	5	8	0	2	3	1	2	1	1	3	3	2	3	0	0	3	2	0	0	5	6			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:138679647A>G	ENST00000370576.4	-	18	2236	c.2027T>C	c.(2026-2028)aTg>aCg	p.M676T	MCF2_ENST00000520602.1_Missense_Mutation_p.M736T|MCF2_ENST00000519895.1_Missense_Mutation_p.M752T|MCF2_ENST00000414978.1_Missense_Mutation_p.M736T|MCF2_ENST00000370578.4_Missense_Mutation_p.M821T|MCF2_ENST00000370573.4_Missense_Mutation_p.M676T|MCF2_ENST00000338585.6_Missense_Mutation_p.M692T|MCF2_ENST00000536274.1_Missense_Mutation_p.M637T|AL033403.1_ENST00000401295.2_RNA	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	676					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATCTGATGCATAGAATCATT	0.388																																						uc011mwn.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2461-2463)aTg>aCg		Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.							117	101	106					X																	138679647		2203	4299	6502	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138679647A>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2027T>C	X.37:g.138679647A>G	ENSP00000359608:p.Met676Thr					MCF2_uc004fav.3_Missense_Mutation_p.M692T|MCF2_uc004fau.3_Missense_Mutation_p.M676T|MCF2_uc010nsh.2_Missense_Mutation_p.M676T|MCF2_uc011mwm.2_Missense_Mutation_p.M637T|MCF2_uc011mwl.2_Missense_Mutation_p.M653T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|Mir_548_uc022cfd.1_5'Flank	p.M821T	NM_001171878	NP_001165349	P10911	MCF2_HUMAN			20	2468	-	Acute lymphoblastic leukemia(192;0.000127)		676					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2462T>C	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888336	0.72524	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.69	5.69	0.88448	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	H	0.94264	3.515	0.53688	D	0.999971	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.998;0.997;0.998;0.993;1.0;0.997	T	0.81790	-0.0771	10	0.87932	D	0	.	14.0474	0.64712	1.0:0.0:0.0:0.0	.	752;821;637;676;676;821;692;676	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	T	736;676;637;821;736;279;752;676;692	ENSP00000427745:M736T;ENSP00000359608:M676T;ENSP00000438155:M637T;ENSP00000359610:M821T;ENSP00000397055:M736T;ENSP00000405848:M279T;ENSP00000430276:M752T;ENSP00000359605:M676T;ENSP00000342204:M692T	ENSP00000342204:M692T	M	-	2	0	MCF2	138507313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.930000	0.92872	1.915000	0.55452	0.486000	0.48141	ATG		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		G	138679647	A	G	138679647	3	3	79	1	0	0	0	0	1	0	0	0	9378	217	8	4	810	4	MCF2	23	138679647	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	69426328	138679647	16590913	85	5358											
PLCH2	9651	broad.mit.edu	37	chr1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggctcgccgccagcGcaccagggaccaatatcctt	8	6	10	17	3	0	0	0	0	0	0	2	1	1	1	6	2	2	2	6	2	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:2411404G>A	ENST00000419816.2	+	3	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.R141H|PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	168					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687																																						uc001aji.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(502-504)cGc>cAc		Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.							24	28	27					1																	2411404		2112	4183	6295	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411404G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.503G>A	1.37:g.2411404G>A	ENSP00000389803:p.Arg168His					PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	p.R168H	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	2	777	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	168					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996538	0.93167	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.45668	0.89;0.89;0.89	4.92	4.92	0.64577	.	1.134970	0.07106	N	0.841378	T	0.60418	0.2267	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51585	-0.8687	10	0.52906	T	0.07	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	168	O75038	PLCH2_HUMAN	H	141;168;168;15	ENSP00000397289:R141H;ENSP00000367747:R168H;ENSP00000367749:R168H	ENSP00000341313:R15H	R	+	2	0	PLCH2	2401264	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.121000	0.94375	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		A	2411404	G	A	2411404	3	1	80	1	0	0	0	0	1	0	0	0	12038	1087	38	1	513	1	PLCH2	1	2411404	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		2411404	246839217	1	5359											
NCDN	23154	broad.mit.edu	37	chr1	36028235	36028235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccaggagacgctctccgGtgagtctgtagttacagtct	7	11	13	10	2	3	2	0	1	3	1	4	3	3	2	2	3	1	3	2	3	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:36028235G>A	ENST00000373243.2	+	4	1768		c.e4+1		NCDN_ENST00000373253.3_Splice_Site|NCDN_ENST00000356090.4_Splice_Site	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin						bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGCTCTCCGGTGAGTCTGTA	0.597																																						uc001bza.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.e5+1		Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.							24	25	25					1																	36028235		2203	4300	6503	SO:0001630	splice_region_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028235G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1385+1G>A	1.37:g.36028235G>A						NCDN_uc001bzb.3_Splice_Site_p.R462_splice|NCDN_uc001bzc.3_Splice_Site_p.R445_splice	p.R462_splice	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN			5	1512	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	462					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Splice_Site	SNP	ENST00000373243.2	37	c.1385_splice	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599238	0.66332	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000423723	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8908	0.70606	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCDN	35800822	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.719000	0.74718	2.434000	0.82447	0.462000	0.41574	.		0.597	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	Intron	A	36028235	G	A	36028235	5	1	80	1	0	0	0	0	0	0	1	0	10214	1275	44	3	1400	3	NCDN	1	36028235	Splice_Site	SNP	G	TCGA-06-2563-01A-01D-1494-08	33616831	36028235	213222386	2	5360											
KIAA0754	643314	broad.mit.edu	37	chr1	39876294	39876294	+	5'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgccacccagaaggcgGccaaatgcagaacgcaaaga	14	3	11	13	2	0	3	0	0	0	3	0	3	0	3	4	2	3	2	4	2	4	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:39876294G>A	ENST00000530275.1	+	0	144				MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754											central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGCGGCCAAATGCAG	0.478																																						uc009vvt.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(355-357)cgG>cgA		Homo sapiens KIAA0754 (KIAA0754), mRNA.							122	124	124					1																	39876294		2014	4181	6195	SO:0001623	5_prime_UTR_variant	643314							g.chr1:39876294G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.-52G>A	1.37:g.39876294G>A						MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	p.R119R	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		0	1119	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	0					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.357G>A																																																																																					0.478	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		A	39876294	G	A	39876294	1	1	80	0	1	0	0	0	0	0	0	0	8192	1190	42	3		3	KIAA0754	1	39876294	5'UTR	SNP	G	TCGA-06-2563-01A-01D-1494-08	3848059	39876294	209374327	3	5361											
C1orf173	127254	broad.mit.edu	37	chr1	75108729	75108729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaaacctctggattcgCtccttcctagctaaggtctc	8	13	6	14	1	2	0	0	0	2	0	6	1	4	1	4	2	2	2	4	2	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:75108729C>A	ENST00000326665.5	-	4	515	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		99										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGGATTCGCTCCTTCCTAG	0.323																																						uc001dgg.3																			0		p.K98K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(295-297)gaG>gaT		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							100	89	93					1																	75108729		2203	4299	6502	SO:0001583	missense	127254							g.chr1:75108729C>A																												ENST00000326665.5:c.297G>T	1.37:g.75108729C>A	ENSP00000322609:p.Glu99Asp						p.E99D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			3	516	-			99					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.297G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734982	0.48939	.	.	ENSG00000178965	ENST00000326665	T	0.22743	1.94	5.4	0.0809	0.14422	.	.	.	.	.	T	0.17152	0.0412	M	0.64997	1.995	0.80722	D	1	D	0.59767	0.986	P	0.56474	0.799	T	0.11203	-1.0597	9	0.56958	D	0.05	-19.778	3.8906	0.09117	0.1683:0.3516:0.0:0.4801	.	99	Q5RHP9	CA173_HUMAN	D	99	ENSP00000322609:E99D	ENSP00000322609:E99D	E	-	3	2	C1orf173	74881317	0.937000	0.31787	0.657000	0.29651	0.452000	0.32318	-0.027000	0.12371	0.360000	0.24265	-0.252000	0.11476	GAG		0.323	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75108729	C	A	75108729	3	1	80	1	0	0	0	0	1	0	0	0	2014	796	28	5	4339	5	C1orf173	1	75108729	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	35232435	75108729	174141892	4	5362											
ZZZ3	26009	broad.mit.edu	37	chr1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcaggttctccggaggctgGcatactctcaagacttgtgt	7	13	11	10	1	3	1	2	0	2	1	5	2	3	2	1	4	1	3	1	4	2	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443																																						uc001dhq.3																			1	Substitution - Missense(1)	p.P347S(2)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1039-1041)Cca>Tca		Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.							181	165	170					1																	78098001		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098001G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1039C>T	1.37:g.78098001G>A	ENSP00000359837:p.Pro347Ser					ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.3_Missense_Mutation_p.P347S	p.P347S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			4	1515	-			347					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1039C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	1.501	-0.552143	0.03996	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	5.4	0.78164	.	0.113130	0.64402	D	0.000009	T	0.22551	0.0544	N	0.21448	0.665	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.002	B;B;B	0.10450	0.003;0.002;0.005	T	0.13469	-1.0508	8	.	.	.	.	7.3643	0.26764	0.2017:0.0:0.7983:0.0	.	347;347;347	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	347	.	.	P	-	1	0	ZZZ3	77870589	1.000000	0.71417	0.378000	0.26068	0.018000	0.09664	4.196000	0.58407	2.714000	0.92807	0.650000	0.86243	CCA		0.443	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		A	78098001	G	A	78098001	3	1	80	1	0	0	0	0	1	0	0	0	18253	1203	42	3	1716	3	ZZZ3	1	78098001	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	2989272	78098001	171152620	5	5363											
ANKRD35	148741	broad.mit.edu	37	chr1	145558841	145558841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatctgtgcaggatggaCgtacacccctgatgatcgca	11	9	10	11	2	1	2	0	2	1	0	2	4	1	4	2	2	3	3	2	2	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:145558841C>T	ENST00000355594.4	+	7	547	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ANKRD35_ENST00000544626.1_Silent_p.D134D	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	154								p.R154C(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGGATGGACGTACACCCCT	0.557																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)	p.R154C(2)|p.G153G(1)	endometrium(1)	NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(460-462)Cgt>Tgt		Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.							128	121	123					1																	145558841		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558841C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.460C>T	1.37:g.145558841C>T	ENSP00000347802:p.Arg154Cys					ANKRD35_uc010oyx.1_5'UTR	p.R154C	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			6	568	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		154					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.460C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.638289	0.67130	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.66638	-0.22	5.38	3.44	0.39384	Ankyrin repeat-containing domain (4);	0.163679	0.26616	N	0.023381	T	0.70962	0.3284	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73007	-0.4118	10	0.54805	T	0.06	-6.2382	7.1285	0.25486	0.1675:0.7441:0.0:0.0884	.	154	Q8N283	ANR35_HUMAN	C	63;154	ENSP00000347802:R154C	ENSP00000347802:R154C	R	+	1	0	ANKRD35	144270198	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	1.127000	0.31357	1.280000	0.44463	-0.213000	0.12676	CGT		0.557	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145558841	C	T	145558841	3	4	80	1	0	0	0	0	1	0	0	0	664	536	19	1	486	1	ANKRD35	1	145558841	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	67460840	145558841	103691780	6	5364											
SPRR1A	6698	broad.mit.edu	37	chr1	152957774	152957774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagcagcaggtgaaacAaccttgccagcctccacccc	11	5	8	17	0	1	1	1	1	0	0	2	1	2	1	6	1	7	3	6	1	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:152957774A>T	ENST00000368762.1	+	1	68	c.68A>T	c.(67-69)cAa>cTa	p.Q23L	SPRR1A_ENST00000307122.2_Missense_Mutation_p.Q23L			P35321	SPR1A_HUMAN	small proline-rich protein 1A	23	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTGAAACAACCTTGCCAG	0.572																																						uc021ozn.1																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7						c.(67-69)cAa>cTa		Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.							128	127	128					1																	152957774		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957774A>T	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.68A>T	1.37:g.152957774A>T	ENSP00000357751:p.Gln23Leu					SPRR1A_uc009wnu.2_Missense_Mutation_p.Q23L|SPRR1A_uc001faw.3_Missense_Mutation_p.Q23L	p.Q23L	NM_005987	NP_005978	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	68	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		23			2 X 12 AA approximate repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.68A>T	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683741	0.47991	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.18810	2.19;2.19	5.5	3.18	0.36537	.	0.000000	0.34802	N	0.003668	T	0.05227	0.0139	.	.	.	0.25863	N	0.983799	B	0.09022	0.002	B	0.10450	0.005	T	0.27226	-1.0080	9	0.72032	D	0.01	-4.1716	4.3164	0.10995	0.7324:0.0:0.0921:0.1754	.	23	P35321	SPR1A_HUMAN	L	23	ENSP00000307340:Q23L;ENSP00000357751:Q23L	ENSP00000307340:Q23L	Q	+	2	0	SPRR1A	151224398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.736000	0.47385	0.894000	0.36317	0.454000	0.30748	CAA		0.572	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		T	152957774	A	T	152957774	3	4	80	1	0	0	0	0	1	0	0	0	15094	130	5	5	70	5	SPRR1A	1	152957774	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	7398933	152957774	96292847	7	5365											
C1orf116	79098	broad.mit.edu	37	chr1	207195575	207195575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcttgtccaagaaggagcCctttcccagagaagtgctgg	10	9	12	10	0	1	2	0	0	1	2	3	5	3	3	3	2	2	1	3	2	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:207195575C>T	ENST00000359470.5	-	4	1783	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	C1orf116_ENST00000461135.2_Missense_Mutation_p.G266S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	512						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGAAGGAGCCCTTTCCCAGA	0.567																																						uc001hfd.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1534-1536)Ggc>Agc		Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.							35	37	36					1																	207195575		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195575C>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1534G>A	1.37:g.207195575C>T	ENSP00000352447:p.Gly512Ser					C1orf116_uc009xcb.1_Missense_Mutation_p.G266S|C1orf116_uc021pii.1_Missense_Mutation_p.G266S	p.G512S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN			3	1793	-	Prostate(682;0.19)		512					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1534G>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301581	0.10678	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.07444	3.19;3.19	5.58	3.69	0.42338	.	1.065670	0.07171	N	0.852316	T	0.04634	0.0126	N	0.08118	0	0.24581	N	0.993874	B	0.16802	0.019	B	0.17722	0.019	T	0.46289	-0.9202	10	0.13108	T	0.6	-1.6876	6.978	0.24688	0.0:0.7036:0.0:0.2964	.	512	Q9BW04	SARG_HUMAN	S	512;266	ENSP00000352447:G512S;ENSP00000436862:G266S	ENSP00000352447:G512S	G	-	1	0	C1orf116	205262198	0.588000	0.26799	0.097000	0.21041	0.726000	0.41606	1.285000	0.33261	0.694000	0.31654	0.655000	0.94253	GGC		0.567	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		T	207195575	C	T	207195575	3	4	80	1	0	0	0	0	1	0	0	0	1989	623	22	3	275	3	C1orf116	1	207195575	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	54237801	207195575	42055046	8	5366											
HIST3H3	8290	broad.mit.edu	37	chr1	228612678	228612678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaggcatgatggtgacccGtttggcatggatgacacaca	10	10	12	9	1	0	3	0	3	0	0	0	4	0	4	1	4	0	3	1	4	1	2	rs368511457		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228612678G>A	ENST00000366696.1	-	1	348	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	117					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				ATGGTGACCCGTTTGGCATGG	0.627																																						uc001hsx.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(349-351)Cgg>Tgg		Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.		G	TRP/ARG	0,4406		0,0,2203	100	87	91		349	3.9	0.9	1		91	2,8598	1.2+/-3.3	0,2,4298	no	missense	HIST3H3	NM_003493.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	117/137	228612678	2,13004	2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612678G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.349C>T	1.37:g.228612678G>A	ENSP00000355657:p.Arg117Trp						p.R117W	NM_003493	NP_003484	Q16695	H31T_HUMAN			0	349	-		Prostate(94;0.0724)	117					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.349C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	9.592	1.126486	0.20959	0.0	2.33E-4	ENSG00000168148	ENST00000366696	T	0.68624	-0.34	3.89	3.89	0.44902	Histone-fold (2);Histone core (1);	0.000000	0.39475	N	0.001351	D	0.89511	0.6736	H	0.99961	5.07	0.36717	D	0.880965	D	0.89917	1.0	D	0.97110	1.0	D	0.92520	0.6024	10	0.87932	D	0	.	9.1576	0.37002	0.0:0.0:0.783:0.217	.	117	Q16695	H31T_HUMAN	W	117	ENSP00000355657:R117W	ENSP00000355657:R117W	R	-	1	2	HIST3H3	226679301	1.000000	0.71417	0.943000	0.38184	0.002000	0.02628	2.332000	0.43903	2.438000	0.82558	0.645000	0.84053	CGG		0.627	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		A	228612678	G	A	228612678	3	1	80	1	0	0	0	0	1	0	0	0	7184	1144	40	1	65	1	HIST3H3	1	228612678	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	21417103	228612678	20637943	9	5367											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645127	228645127	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggggcggcgggcggcctCacttgcccttggccttgtgg	1	8	18	14	4	1	0	1	0	0	0	1	0	1	0	4	7	1	0	4	7	0	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228645127C>T	ENST00000366695.2	-	1	433	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	0					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				cgggcggccTCACTTGCCCTT	0.627																																						uc001hsy.3																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(391-393)tGa>tAa		Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.							29	32	31					1																	228645127		2203	4299	6502	SO:0001819	synonymous_variant	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645127C>T	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.392G>A	1.37:g.228645127C>T						HIST3H2BB_uc001hsz.3_5'Flank	p.*131*	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			0	434	-		Prostate(94;0.183)	0					B2R4S4	Silent	SNP	ENST00000366695.2	37	c.392G>A	CCDS1573.1																																																																																				0.627	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		T	228645127	C	T	228645127	2	4	80	1	0	0	0	0	0	0	0	1	7182	837	29	3		3	HIST3H2A	1	228645127	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	32449	228645127	20605494	10	5368											
OR2C3	81472	broad.mit.edu	37	chr1	247695195	247695195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagaggcaggacaacaaAgacaaagctggccaggtaca	16	2	11	12	0	0	2	0	0	0	2	0	3	0	3	3	4	3	3	3	4	4	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:247695195A>G	ENST00000366487.3	-	2	980	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGACAACAAAGACAAAGCTG	0.532																																						uc021pmb.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(619-621)Ttt>Ctt		Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.							94	89	91					1																	247695195		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695195A>G	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.619T>C	1.37:g.247695195A>G	ENSP00000355443:p.Phe207Leu					C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.F207L	p.F207L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		0	619	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	207					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.619T>C	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199325	0.38806	.	.	ENSG00000196242	ENST00000366487	T	0.00021	9.02	3.89	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001525	T	0.00073	0.0002	N	0.11845	0.185	0.09310	N	1	B	0.26445	0.149	B	0.24974	0.057	T	0.05954	-1.0854	10	0.37606	T	0.19	.	5.4393	0.16498	0.6298:0.209:0.0:0.1612	.	207	Q8N628	OR2C3_HUMAN	L	207	ENSP00000355443:F207L	ENSP00000355443:F207L	F	-	1	0	OR2C3	245761818	0.000000	0.05858	0.004000	0.12327	0.763000	0.43281	-1.303000	0.02743	0.140000	0.18849	0.528000	0.53228	TTT		0.532	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		G	247695195	A	G	247695195	3	3	80	1	0	0	0	0	1	0	0	0	10993	72	3	4	347	4	OR2C3	1	247695195	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	19050068	247695195	1555426	11	5369											
RNF181	51255	broad.mit.edu	37	chr2	85824255	85824255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccttgtgccgctatgAgctgcccactgatgacgaca	7	10	10	14	2	0	3	0	3	0	0	1	4	1	3	3	0	3	2	3	0	1	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:85824255A>G	ENST00000306368.4	+	4	386	c.356A>G	c.(355-357)gAg>gGg	p.E119G	RNF181_ENST00000441634.1_Missense_Mutation_p.E119G	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	119					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TGCCGCTATGAGCTGCCCACT	0.522																																						uc002spv.1																			0				lung(1)|stomach(1)	2						c.(355-357)gAg>gGg		Homo sapiens ring finger protein 181 (RNF181), mRNA.							155	155	155					2																	85824255		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85824255A>G	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.356A>G	2.37:g.85824255A>G	ENSP00000306906:p.Glu119Gly						p.E119G	NM_016494	NP_057578	Q9P0P0	RN181_HUMAN			3	406	+			119					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.356A>G	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748077	0.89663	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000456023	T;T	0.68765	-0.3;-0.35	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.052599	0.85682	D	0.000000	D	0.84238	0.5428	M	0.90145	3.09	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.87388	0.2361	10	0.72032	D	0.01	.	13.3553	0.60625	1.0:0.0:0.0:0.0	.	119	Q9P0P0	RN181_HUMAN	G	119;119;115	ENSP00000412025:E119G;ENSP00000306906:E119G	ENSP00000306906:E119G	E	+	2	0	RNF181	85677766	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.207000	0.89746	2.030000	0.59900	0.459000	0.35465	GAG		0.522	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		G	85824255	A	G	85824255	3	3	80	1	0	0	0	0	1	0	0	0	13465	304	11	4	370	4	RNF181	2	85824255	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08		85824255	157375118	12	5370											
ANAPC1	64682	broad.mit.edu	37	chr2	112608407	112608407	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggagtactaacgccatcTagtggagtactgggccgagg	9	10	14	8	2	1	0	0	0	1	0	1	3	1	2	2	4	3	2	2	4	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608407T>A	ENST00000341068.3	-	14	2368	c.1596A>T	c.(1594-1596)ctA>ctT	p.L532L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCCATCTAGTGGAGTAC	0.433																																						uc002thi.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1594-1596)ctA>ctT		Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.							94	92	93					2																	112608407		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608407T>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1596A>T	2.37:g.112608407T>A							p.L532L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			13	1843	-			532					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1596A>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	A	5.581	0.292050	0.10567	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.57	-9.15	0.00698	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1232	8.7726	0.34742	0.1214:0.6509:0.0741:0.1536	.	.	.	.	X	67	.	.	R	-	1	2	ANAPC1	112324878	0.554000	0.26522	0.003000	0.11579	0.321000	0.28281	-0.332000	0.07904	-2.283000	0.00672	-0.597000	0.04108	AGA		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		A	112608407	T	A	112608407	2	1	80	1	0	0	0	0	0	0	0	1	598	1509	53	5		5	ANAPC1	2	112608407	Silent	SNP	T	TCGA-06-2563-01A-01D-1494-08	26784152	112608407	130590966	13	5371											
LY75	4065	broad.mit.edu	37	chr2	160755444	160755444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgcaaatgaaagagcCgatgctgggacacccacttc	12	6	13	10	1	0	2	0	1	0	1	1	5	0	4	2	2	3	2	2	2	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:160755444C>T	ENST00000263636.4	-	2	248	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R74Q|LY75_ENST00000553424.1_Missense_Mutation_p.R74Q|LY75_ENST00000554112.1_Missense_Mutation_p.R74Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R74Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	74	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGAAAGAGCCGATGCTGGGA	0.493																																						uc002ubb.4																			0											c.(220-222)cGg>cAg		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.							137	119	125					2																	160755444		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755444C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.221G>A	2.37:g.160755444C>T	ENSP00000263636:p.Arg74Gln					LY75-CD302_uc010fos.3_Missense_Mutation_p.R74Q|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R74Q|LY75-CD302_uc010fot.2_Missense_Mutation_p.R74Q	p.R74Q	NM_001198759	NP_001185688	O60449	LY75_HUMAN			1	295	-			74			Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.221G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	36	5.611929	0.96637	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	6.02	6.02	0.97574	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.33253	N	0.005108	T	0.62429	0.2427	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.58165	-0.7684	10	0.32370	T	0.25	-21.0887	20.5407	0.99260	0.0:1.0:0.0:0.0	.	74;74;74	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Q	74	ENSP00000451511:R74Q;ENSP00000451446:R74Q;ENSP00000263636:R74Q;ENSP00000423463:R74Q;ENSP00000421035:R74Q	ENSP00000423463:R74Q	R	-	2	0	LY75;LY75-CD302	160463690	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	6.750000	0.74888	2.865000	0.98341	0.655000	0.94253	CGG		0.493	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160755444	C	T	160755444	3	4	80	1	0	0	0	0	1	0	0	0	9099	652	23	2	5083	2	LY75	2	160755444	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	48147037	160755444	82443929	14	5372											
TRIP12	9320	broad.mit.edu	37	chr2	230663714	230663714	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatgtttttggattcAagcttgccaggaaagaagat	11	13	9	8	0	1	2	1	0	0	2	2	4	2	4	3	2	2	2	3	2	3	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663714A>C	ENST00000283943.5	-	22	3312	c.3134T>G	c.(3133-3135)tTg>tGg	p.L1045W	TRIP12_ENST00000389045.3_Missense_Mutation_p.L775W|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1093W	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1045					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTGGATTCAAGCTTGCCAG	0.448																																						uc002vpx.1																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3277-3279)tTg>tGg		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							154	149	150					2																	230663714		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663714A>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3134T>G	2.37:g.230663714A>C	ENSP00000283943:p.Leu1045Trp					TRIP12_uc021vxw.1_Missense_Mutation_p.L1078W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc002vpw.1_Missense_Mutation_p.L1045W|TRIP12_uc010zlz.1_Non-coding_Transcript	p.L1093W	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3387	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1045					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3278T>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857392	0.91433	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.49720	0.77;0.77;0.77	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.99;0.99	T	0.67635	-0.5620	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	775;1093;1045	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	W	1045;775;1093	ENSP00000283943:L1045W;ENSP00000373697:L775W;ENSP00000373696:L1093W	ENSP00000283943:L1045W	L	-	2	0	TRIP12	230371958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	TTG		0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230663714	A	C	230663714	3	2	80	1	0	0	0	0	1	0	0	0	16553	131	5	5	2924	5	TRIP12	2	230663714	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	69908270	230663714	12535659	15	5373			1	19		3	3	50	N	T_A	1.016105e-08
TRIP12	9320	broad.mit.edu	37	chr2	230663734	230663734	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcttgccaggaaagaagaTttaggtgactgagtagtggt	13	10	14	4	0	0	4	0	2	0	2	0	5	0	5	1	3	2	2	1	3	5	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663734T>C	ENST00000283943.5	-	22	3292	c.3114A>G	c.(3112-3114)aaA>aaG	p.K1038K	TRIP12_ENST00000389045.3_Silent_p.K768K|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Silent_p.K1086K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1038					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGAAAGAAGATTTAGGTGACT	0.398																																						uc002vpx.1																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3256-3258)aaA>aaG		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							140	136	137					2																	230663734		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663734T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3114A>G	2.37:g.230663734T>C						TRIP12_uc021vxw.1_Silent_p.K1071K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc002vpw.1_Silent_p.K1038K|TRIP12_uc010zlz.1_Non-coding_Transcript	p.K1086K	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3367	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1038					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.3258A>G	CCDS33391.1																																																																																				0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230663734	T	C	230663734	2	2	80	1	0	0	0	0	0	0	0	1	16553	1490	52	4		4	TRIP12	2	230663734	Silent	SNP	T	TCGA-06-2563-01A-01D-1494-08	20	230663734	12535639	16	5374			1	19		3	3	50	N	T_A	1.016105e-08
TRIP12	9320	broad.mit.edu	37	chr2	230663763	230663763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtagtggtggggctttTagctatgaaaagaaaaaaga	15	10	13	3	0	0	4	0	2	0	2	0	4	0	4	0	3	1	3	0	3	8	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663763T>C	ENST00000283943.5	-	22	3263	c.3085A>G	c.(3085-3087)Aaa>Gaa	p.K1029E	TRIP12_ENST00000389045.3_Missense_Mutation_p.K759E|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1077E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1029					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGGGCTTTTAGCTATGAAA	0.343																																						uc002vpx.1																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3229-3231)Aaa>Gaa		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							106	105	105					2																	230663763		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663763T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3085A>G	2.37:g.230663763T>C	ENSP00000283943:p.Lys1029Glu					TRIP12_uc021vxw.1_Missense_Mutation_p.K1062E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc002vpw.1_Missense_Mutation_p.K1029E|TRIP12_uc010zlz.1_Non-coding_Transcript	p.K1077E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3338	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1029					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3229A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913474	0.92178	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.52057	0.68;0.68;0.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52842	0.956;0.956;0.956	D;D;D	0.65010	0.931;0.931;0.931	T	0.43766	-0.9371	10	0.12103	T	0.63	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	759;1077;1029	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	1029;759;1077	ENSP00000283943:K1029E;ENSP00000373697:K759E;ENSP00000373696:K1077E	ENSP00000283943:K1029E	K	-	1	0	TRIP12	230372007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.371000	0.80710	0.533000	0.62120	AAA		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230663763	T	C	230663763	3	2	80	1	0	0	0	0	1	0	0	0	16553	1763	61	4	2973	4	TRIP12	2	230663763	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	29	230663763	12535610	17	5375			1	19		3	3	50	N	T_A	1.016105e-08
GRIP2	80852	broad.mit.edu	37	chr3	14558595	14558595	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcttgtgttcccttcttCgctgcctcctccgccccatt	2	15	6	18	2	2	0	0	0	2	0	6	0	5	0	6	0	2	3	6	0	0	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:14558595C>T	ENST00000273083.3	-	0	1347							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTCCCTTCTTCGCTGCCTCCT	0.572																																						uc021wtn.1																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						c.(1570-1572)cGa>cAa		Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.							65	72	70					3																	14558595		2082	4210	6292			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14558595C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558595C>T							p.R524Q	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			12	1571	-			428			PDZ 4.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1571G>A																																																																																					0.572	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		T	14558595	C	T	14558595	1	4	80	0	1	0	0	0	0	0	0	0	6788	884	31	2		2	GRIP2	3	14558595	RNA	SNP	C	TCGA-06-2563-01A-01D-1494-08		14558595	183463835	18	5376											
TLR9	54106	broad.mit.edu	37	chr3	52255367	52255367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggaggacactctggcGgcagaggcgctggcgcagcc	8	3	17	13	3	1	2	0	0	1	2	1	4	1	4	2	6	1	3	2	6	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:52255367G>T	ENST00000360658.2	-	2	3598	c.2965C>A	c.(2965-2967)Cgc>Agc	p.R989S	TLR9_ENST00000494383.1_Missense_Mutation_p.P1142Q|TLR9_ENST00000597542.1_Missense_Mutation_p.R1013S	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	989	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ACACTCTGGCGGCAGAGGCGC	0.687																																						uc003ddb.3																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(3256-3258)Cgc>Agc		Homo sapiens toll-like receptor 9 (TLR9), mRNA.	Chloroquine(DB00608)						31	35	34					3																	52255367		2203	4299	6502	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255367G>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2965C>A	3.37:g.52255367G>T	ENSP00000353874:p.Arg989Ser					TLR9_uc003dda.2_Missense_Mutation_p.R989S	p.R1086S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	3466	-			989					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.3256C>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.926043|2.926043	0.52759|0.52759	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.07908	.|3.15	5.18|5.18	4.28|4.28	0.50868|0.50868	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.42053	.|D	.|0.000780	T|T	0.09949|0.09949	0.0244|0.0244	L|L	0.48935|0.48935	1.535|1.535	0.41648|0.41648	D|D	0.989112|0.989112	.|B;B	.|0.30068	.|0.267;0.167	.|B;B	.|0.30029	.|0.11;0.103	T|T	0.07102|0.07102	-1.0790|-1.0790	5|10	.|0.66056	.|D	.|0.02	.|.	12.8779|12.8779	0.57999|0.57999	0.0:0.0:0.824:0.176|0.0:0.0:0.824:0.176	.|.	.|1086;989	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Q|S	1142|989	.|ENSP00000353874:R989S	.|ENSP00000353874:R989S	P|R	-|-	2|1	0|0	RP11-330H6.5|TLR9	52230407|52230407	0.703000|0.703000	0.27826|0.27826	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.408000|0.408000	0.21065|0.21065	1.332000|1.332000	0.45431|0.45431	0.591000|0.591000	0.81541|0.81541	CCG|CGC		0.687	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			T	52255367	G	T	52255367	3	4	80	1	0	0	0	0	1	0	0	0	15955	1116	39	5	137	5	TLR9	3	52255367	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	37696772	52255367	145767063	19	5377											
TNIP3	79931	broad.mit.edu	37	chr4	122075742	122075742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcacattcgtaatgttcCttttccttgttcgcaagagt	8	18	6	9	2	1	1	1	0	0	1	5	1	3	1	2	0	0	4	2	0	2	8			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr4:122075742C>G	ENST00000509841.1	-	8	765	c.687G>C	c.(685-687)aaG>aaC	p.K229N	TNIP3_ENST00000057513.3_Missense_Mutation_p.K152N|TNIP3_ENST00000454328.1_Missense_Mutation_p.K152N|TNIP3_ENST00000507879.1_Missense_Mutation_p.K222N	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTAATGTTCCTTTTCCTTGT	0.343																																						uc021xrj.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(685-687)aaG>aaC		Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.							186	170	175					4																	122075742		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122075742C>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.687G>C	4.37:g.122075742C>G	ENSP00000426613:p.Lys229Asn					TNIP3_uc010ing.3_Missense_Mutation_p.K152N|TNIP3_uc011cgj.2_Missense_Mutation_p.K222N|TNIP3_uc010ini.3_Missense_Mutation_p.K152N	p.K229N	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN			7	766	-			152						Missense_Mutation	SNP	ENST00000509841.1	37	c.687G>C	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299524	0.40694	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.71	2.94	0.34122	.	0.162472	0.41001	D	0.000976	T	0.70369	0.3216	L	0.60455	1.87	0.31321	N	0.686051	D;D;D	0.76494	0.996;0.999;0.96	P;D;P	0.63283	0.856;0.913;0.711	T	0.72861	-0.4164	10	0.87932	D	0	-17.8499	9.8035	0.40779	0.0:0.768:0.0:0.232	.	222;152;152	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	N	152;152;222;229	ENSP00000057513:K152N;ENSP00000411817:K152N;ENSP00000427106:K222N;ENSP00000426613:K229N	ENSP00000057513:K152N	K	-	3	2	TNIP3	122295192	1.000000	0.71417	0.984000	0.44739	0.179000	0.23085	0.870000	0.28010	0.657000	0.30906	0.655000	0.94253	AAG		0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		G	122075742	C	G	122075742	3	3	80	1	0	0	0	0	1	0	0	0	16313	680	24	5	549	5	TNIP3	4	122075742	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		122075742	69078534	20	5378											
BRD9	65980	broad.mit.edu	37	chr5	865623	865623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgcctgtgcttcgtgcagGtcctgcaggagcttcgtcgt	3	12	13	13	4	0	0	0	0	0	0	5	1	2	1	3	2	4	4	3	2	0	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:865623G>C	ENST00000467963.1	-	15	1765	c.1599C>G	c.(1597-1599)gaC>gaG	p.D533E	BRD9_ENST00000323510.4_Missense_Mutation_p.D437E|BRD9_ENST00000388890.4_Missense_Mutation_p.D417E|BRD9_ENST00000483173.1_Missense_Mutation_p.D480E	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	533					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTTCGTGCAGGTCCTGCAGGA	0.617																																						uc003jbq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(1597-1599)gaC>gaG		Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.							157	154	155					5																	865623		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:865623G>C	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1599C>G	5.37:g.865623G>C	ENSP00000419765:p.Asp533Glu					BRD9_uc003jbl.3_Missense_Mutation_p.D417E|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.D480E|BRD9_uc003jbo.3_Missense_Mutation_p.D437E	p.D533E	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		14	1766	-			533					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.1599C>G	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	0.224	-1.026390	0.02045	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.36	0.85	0.18980	.	0.089231	0.85682	N	0.000000	T	0.20941	0.0504	N	0.11201	0.11	0.80722	D	1	B;B;B;B	0.29301	0.241;0.241;0.043;0.043	B;B;B;B	0.25987	0.065;0.065;0.05;0.05	T	0.06041	-1.0849	10	0.10902	T	0.67	.	7.5513	0.27798	0.2926:0.1218:0.5856:0.0	.	480;533;437;417	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	E	437;417;480;533	ENSP00000323557:D437E;ENSP00000373542:D417E;ENSP00000419845:D480E;ENSP00000419765:D533E	ENSP00000323557:D437E	D	-	3	2	BRD9	918623	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	1.013000	0.29937	0.227000	0.20999	0.561000	0.74099	GAC		0.617	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		C	865623	G	C	865623	3	2	80	1	0	0	0	0	1	0	0	0	1507	1252	44	5	202	5	BRD9	5	865623	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		865623	180049637	21	5379											
MARVELD2	153562	broad.mit.edu	37	chr5	68728420	68728420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcaaggaactgagaacaGcaaaaatgaaacctgaacta	20	7	7	7	0	1	3	1	3	0	1	1	5	1	4	1	1	5	1	1	1	8	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:68728420G>A	ENST00000325631.5	+	4	1323	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MARVELD2_ENST00000413223.2_Missense_Mutation_p.A301T	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	417					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACTGAGAACAGCAAAAATGAA	0.448																																						uc003jwq.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1249-1251)Gca>Aca		Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.							93	86	88					5																	68728420		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68728420G>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1249G>A	5.37:g.68728420G>A	ENSP00000323264:p.Ala417Thr					MARVELD2_uc010ixf.3_Missense_Mutation_p.A405T|MARVELD2_uc003jws.1_Non-coding_Transcript	p.A417T	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	3	1323	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	417					A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.1249G>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	1.438	-0.568527	0.03910	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.42513	1.53;0.97;1.53;1.55;1.55	5.7	-1.22	0.09494	.	0.773311	0.12703	N	0.446150	T	0.10337	0.0253	N	0.00554	-1.385	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.37291	-0.9712	10	0.10111	T	0.7	-5.1999	7.307	0.26453	0.3189:0.1562:0.525:0.0	.	405;417;417	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	T	417;417;405;417;301;301	ENSP00000323264:A417T;ENSP00000396244:A405T;ENSP00000423490:A417T;ENSP00000414776:A301T;ENSP00000398922:A301T	ENSP00000282886:A417T	A	+	1	0	MARVELD2	68764176	0.494000	0.26043	0.005000	0.12908	0.724000	0.41520	0.433000	0.21477	-0.192000	0.10432	-0.345000	0.07892	GCA		0.448	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		A	68728420	G	A	68728420	3	1	80	1	0	0	0	0	1	0	0	0	9318	971	34	3	1259	3	MARVELD2	5	68728420	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	67862797	68728420	112186840	22	5380											
SLCO6A1	133482	broad.mit.edu	37	chr5	101816005	101816005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttttctgtctccataGaatgctataaatattgctac	11	18	4	8	0	2	1	0	0	2	1	3	1	2	1	1	0	3	2	1	0	7	9			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:101816005G>T	ENST00000506729.1	-	2	663	c.492C>A	c.(490-492)ttC>ttA	p.F164L	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.F164L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.F164L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F164L|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.F164L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTCTCCATAGAATGCTATAA	0.338																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(490-492)ttC>ttA		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							119	122	121					5																	101816005		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101816005G>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.492C>A	5.37:g.101816005G>T	ENSP00000421339:p.Phe164Leu					SLCO6A1_uc003kno.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.3_Missense_Mutation_p.F164L	p.F164L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	664	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	164					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.492C>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590156	0.28357	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.56	0.764	0.18465	Major facilitator superfamily domain, general substrate transporter (1);	0.472554	0.20159	N	0.097986	T	0.39145	0.1067	L	0.58810	1.83	0.18873	N	0.999986	P;P;P	0.44877	0.842;0.625;0.845	P;B;B	0.45276	0.475;0.33;0.326	T	0.26744	-1.0094	10	0.72032	D	0.01	.	6.4163	0.21717	0.4152:0.0:0.5848:0.0	.	164;164;164	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	164	ENSP00000421339:F164L;ENSP00000369135:F164L;ENSP00000373671:F164L;ENSP00000421990:F164L;ENSP00000369138:F164L	ENSP00000369135:F164L	F	-	3	2	SLCO6A1	101843904	0.923000	0.31300	0.395000	0.26283	0.087000	0.18053	0.125000	0.15749	0.264000	0.21851	-0.140000	0.14226	TTC		0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		T	101816005	G	T	101816005	3	4	80	1	0	0	0	0	1	0	0	0	14732	933	33	5	1715	5	SLCO6A1	5	101816005	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	33087585	101816005	79099255	23	5381											
CHSY3	337876	broad.mit.edu	37	chr5	129519964	129519964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attatgaacacaatcggaagGgttacatccaagaccttcac	15	9	7	10	1	1	2	1	1	0	1	3	3	2	3	2	2	2	1	2	2	6	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:129519964G>A	ENST00000305031.4	+	3	1487	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	377					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAATCGGAAGGGTTACATCCA	0.338																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1129-1131)Ggt>Agt		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							86	82	84					5																	129519964		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129519964G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1129G>A	5.37:g.129519964G>A	ENSP00000302629:p.Gly377Ser						p.G377S	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	1129	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	377					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1129G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818022	0.90790	.	.	ENSG00000198108	ENST00000305031	D	0.84660	-1.88	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000016	D	0.85695	0.5756	M	0.62723	1.935	0.80722	D	1	P	0.37548	0.599	B	0.42062	0.374	D	0.84551	0.0644	9	.	.	.	-0.7207	18.4922	0.90852	0.0:0.0:1.0:0.0	.	377	Q70JA7	CHSS3_HUMAN	S	377	ENSP00000302629:G377S	.	G	+	1	0	CHSY3	129547863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.775000	0.95449	0.644000	0.83932	GGT		0.338	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		A	129519964	G	A	129519964	3	1	80	1	0	0	0	0	1	0	0	0	3413	1232	43	3	1139	3	CHSY3	5	129519964	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	27703959	129519964	51395296	24	5382											
FBXO38	81545	broad.mit.edu	37	chr5	147784293	147784293	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcccaatgctaaggcaccTttatatgaagtgggtaagac	13	11	9	8	0	0	2	0	1	0	1	1	2	1	2	2	2	1	3	2	2	7	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:147784293T>G	ENST00000340253.5	+	6	806	c.638T>G	c.(637-639)cTt>cGt	p.L213R	FBXO38_ENST00000296701.6_Missense_Mutation_p.L213R|FBXO38_ENST00000394370.3_Missense_Mutation_p.L213R|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.L213R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	213					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGCACCTTTATATGAAG	0.348																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(637-639)cTt>cGt		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							86	81	83					5																	147784293		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147784293T>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.638T>G	5.37:g.147784293T>G	ENSP00000342023:p.Leu213Arg					FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	p.L213R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	758	+			213					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.638T>G		.	.	.	.	.	.	.	.	.	.	T	24.2	4.509689	0.85282	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.59906	0.23;3.67;0.23;3.67	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.989;0.995;0.997	T	0.70360	-0.4893	10	0.87932	D	0	-15.689	14.4534	0.67401	0.0:0.0:0.0:1.0	.	213;213;213	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	R	213	ENSP00000342023:L213R;ENSP00000296701:L213R;ENSP00000377895:L213R;ENSP00000426410:L213R	ENSP00000296701:L213R	L	+	2	0	FBXO38	147764486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.634000	0.83273	2.140000	0.66376	0.533000	0.62120	CTT		0.348	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147784293	T	G	147784293	3	3	80	1	0	0	0	0	1	0	0	0	5746	1609	56	5	656	5	FBXO38	5	147784293	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	18264329	147784293	33130967	25	5383											
SLIT3	6586	broad.mit.edu	37	chr5	168212916	168212916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagttcctactcacagcaGctgtagggacaccagcccat	12	7	8	14	0	1	0	1	0	0	0	2	1	2	1	3	1	4	4	3	1	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:168212916G>A	ENST00000519560.1	-	12	1566	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLIT3_ENST00000332966.8_Silent_p.L383L|SLIT3_ENST00000404867.3_Silent_p.L383L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	383					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCACAGCAGCTGTAGGGAC	0.493																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1147-1149)Ctg>Ttg		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							149	124	133					5																	168212916		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168212916G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1147C>T	5.37:g.168212916G>A						SLIT3_uc003mab.3_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L	p.L383L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1567	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	383					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1147C>T	CCDS4369.1																																																																																				0.493	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		A	168212916	G	A	168212916	2	1	80	1	0	0	0	0	0	0	0	1	14741	962	34	3		3	SLIT3	5	168212916	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	20428623	168212916	12702344	26	5384											
NSD1	64324	broad.mit.edu	37	chr5	176638305	176638305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacacaattcagagaaaaagGgagatggcactcagaactcc	17	5	9	10	0	2	3	2	0	0	3	3	5	3	3	1	2	1	1	1	2	4	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:176638305G>A	ENST00000439151.2	+	5	2950	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	NSD1_ENST00000361032.4_Missense_Mutation_p.G866R|NSD1_ENST00000354179.4_Missense_Mutation_p.G700R|NSD1_ENST00000347982.4_Missense_Mutation_p.G700R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	969					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGAAAAAGGGAGATGGCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.4				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2905-2907)Gga>Aga		Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.							67	67	67					5																	176638305		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638305G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2905G>A	5.37:g.176638305G>A	ENSP00000395929:p.Gly969Arg	HNSCC(47;0.14)				NSD1_uc003mft.4_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.2_Missense_Mutation_p.G617R	p.G969R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	4	3043	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	969					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2905G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618779	0.14129	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93811	-3.18;-3.18;-3.18;-3.29	4.83	3.06	0.35304	.	0.561873	0.17192	N	0.183456	D	0.88768	0.6526	L	0.29908	0.895	0.09310	N	1	P;D;P	0.56746	0.836;0.977;0.597	B;P;B	0.48030	0.44;0.564;0.17	T	0.80317	-0.1433	9	.	.	.	.	6.4161	0.21717	0.166:0.1497:0.6843:0.0	.	700;866;969	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	700;969;700;866	ENSP00000346111:G700R;ENSP00000395929:G969R;ENSP00000343209:G700R;ENSP00000354310:G866R	.	G	+	1	0	NSD1	176570911	1.000000	0.71417	0.015000	0.15790	0.104000	0.19210	2.599000	0.46231	0.755000	0.32990	-0.140000	0.14226	GGA		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176638305	G	A	176638305	3	1	80	1	0	0	0	0	1	0	0	0	10669	1233	43	3	2919	3	NSD1	5	176638305	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	8425389	176638305	4276955	27	5385											
PNPLA1	285848	broad.mit.edu	37	chr6	36259268	36259268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgtgagcctcacccGcttaacggacggggagaatg	9	7	13	12	3	1	2	1	1	0	1	2	4	2	3	3	3	2	2	3	3	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:36259268G>A	ENST00000394571.2	+	2	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R31H|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R31H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	126	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.R31H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCTCACCCGCTTAACGGAC	0.602																																						uc010jwf.2																			1	Substitution - Missense(1)	p.R31H(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(376-378)cGc>cAc		Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.							68	61	63					6																	36259268		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36259268G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.377G>A	6.37:g.36259268G>A	ENSP00000378072:p.Arg126His					PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H|PNPLA1_uc003olw.1_Missense_Mutation_p.R31H	p.R126H	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN			1	377	+			126			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.377G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882637	0.72410	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.24	4.36	0.52297	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000012	D	0.82435	0.5036	M	0.71206	2.165	0.43275	D	0.995239	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.84937	0.0863	10	0.87932	D	0	-21.413	11.3522	0.49594	0.0887:0.0:0.9113:0.0	.	126;31	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	H	31;31;126;126	ENSP00000373367:R31H;ENSP00000321116:R31H;ENSP00000391868:R126H;ENSP00000378072:R126H	ENSP00000321116:R31H	R	+	2	0	PNPLA1	36367246	0.999000	0.42202	0.830000	0.32933	0.591000	0.36615	8.356000	0.90085	1.198000	0.43158	0.467000	0.42956	CGC		0.602	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		A	36259268	G	A	36259268	3	1	80	1	0	0	0	0	1	0	0	0	12164	1087	38	1	383	1	PNPLA1	6	36259268	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		36259268	134855799	28	5386											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753983	41753983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatgccctgcctgggggaAgcccctgctgccccagctgc	4	8	13	16	0	0	0	0	0	0	0	0	1	0	1	6	2	7	3	6	2	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:41753983A>G	ENST00000394260.1	+	4	580	c.580A>G	c.(580-582)Agc>Ggc	p.S194G	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.S234G|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.S194G|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.S234G|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.S234G			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	194	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTGGGGGAAGCCCCTGCTG	0.672																																						uc011duf.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(700-702)Agc>Ggc		Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.							29	31	30					6																	41753983		2203	4298	6501	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41753983A>G	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.580A>G	6.37:g.41753983A>G	ENSP00000377803:p.Ser194Gly					PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	p.S234G	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	948	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		194					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.700A>G		.	.	.	.	.	.	.	.	.	.	A	9.498	1.102495	0.20632	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	4.81	2.82	0.32997	.	0.241831	0.29551	N	0.011834	T	0.51143	0.1657	N	0.10945	0.07	0.28582	N	0.910063	B	0.06786	0.001	B	0.08055	0.003	T	0.41251	-0.9519	10	0.27785	T	0.31	-8.6764	4.6754	0.12710	0.1906:0.3795:0.4299:0.0	.	234	Q2TBC4-3	.	G	234;234;234;194;194	ENSP00000404911:S234G;ENSP00000352128:S234G;ENSP00000377806:S234G;ENSP00000377802:S194G;ENSP00000377803:S194G	ENSP00000335185:S234G	S	+	1	0	PRICKLE4	41861961	0.002000	0.14202	1.000000	0.80357	0.970000	0.65996	0.017000	0.13399	0.485000	0.27652	0.459000	0.35465	AGC		0.672	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		G	41753983	A	G	41753983	3	3	80	1	0	0	0	0	1	0	0	0	12489	72	3	4	718	4	PRICKLE4	6	41753983	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	5494715	41753983	129361084	29	5387											
TIAM2	26230	broad.mit.edu	37	chr6	155572049	155572049	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtttttacaatctaggtAacagaactttcgatgggaga	12	13	9	7	1	1	2	0	0	1	2	2	4	1	2	1	2	3	2	1	2	5	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:155572049A>C	ENST00000461783.3	+	24	5227	c.3954A>C	c.(3952-3954)gtA>gtC	p.V1318V	TIAM2_ENST00000367174.2_Silent_p.V694V|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000529824.2_Silent_p.V1347V|TIAM2_ENST00000456144.1_Silent_p.V1347V|TIAM2_ENST00000360366.4_Silent_p.V1342V|TIAM2_ENST00000528391.2_Silent_p.V654V|TIAM2_ENST00000456877.2_Silent_p.V630V|TIAM2_ENST00000275246.7_Silent_p.V243V|TIAM2_ENST00000318981.5_Silent_p.V1318V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1318					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAATCTAGGTAACAGAACTTT	0.423																																						uc003qqb.3																			0		p.E1317A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3952-3954)gtA>gtC		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							144	139	141					6																	155572049		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572049A>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3954A>C	6.37:g.155572049A>C						TIAM2_uc003qqe.3_Silent_p.V1318V|TIAM2_uc010kjj.3_Silent_p.V880V|TIAM2_uc003qqf.3_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.3_Silent_p.V630V|TIAM2_uc003qqh.3_Silent_p.V243V	p.V1318V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	23	5227	+		Ovarian(120;0.196)	1318					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3954A>C	CCDS34558.1																																																																																				0.423	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		C	155572049	A	C	155572049	2	2	80	1	0	0	0	0	0	0	0	1	15888	349	13	5		5	TIAM2	6	155572049	Silent	SNP	A	TCGA-06-2563-01A-01D-1494-08	113818066	155572049	15543018	30	5388											
HECW1	23072	broad.mit.edu	37	chr7	43485067	43485067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccggagtccacgaacggcGctgggccgtggcaagacgag	9	3	16	13	6	0	1	0	0	0	1	1	4	1	2	3	4	1	2	3	4	2	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:43485067G>A	ENST00000395891.2	+	11	2901	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T	HECW1_ENST00000453890.1_Missense_Mutation_p.A766T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	766					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACGAACGGCGCTGGGCCGTG	0.652																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2296-2298)Gct>Act		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							22	26	25					7																	43485067		1965	4139	6104	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43485067G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2296G>A	7.37:g.43485067G>A	ENSP00000379228:p.Ala766Thr					HECW1_uc011kbi.1_Missense_Mutation_p.A766T	p.A766T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			10	2901	+			766					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2296G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921364	0.33908	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31510	1.49;1.51	4.89	-1.37	0.09056	.	0.762936	0.13055	N	0.417368	T	0.11196	0.0273	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.25502	-1.0130	10	0.16896	T	0.51	.	0.8224	0.01114	0.2164:0.3255:0.195:0.2631	.	766;766	B4DH42;Q76N89	.;HECW1_HUMAN	T	766	ENSP00000379228:A766T;ENSP00000407774:A766T	ENSP00000265522:A766T	A	+	1	0	HECW1	43451592	0.023000	0.18921	0.000000	0.03702	0.988000	0.76386	0.982000	0.29539	0.106000	0.17784	0.591000	0.81541	GCT		0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43485067	G	A	43485067	3	1	80	1	0	0	0	0	1	0	0	0	7042	1087	38	1	2330	1	HECW1	7	43485067	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		43485067	115653596	31	5389											
ZPBP	11055	broad.mit.edu	37	chr7	50121433	50121433	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctatcagttcagcatttcGcagttgttgcgttacacata	9	15	8	9	2	3	0	2	0	1	0	4	0	3	0	0	0	3	6	0	0	3	7	rs201826735		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:50121433G>A	ENST00000046087.2	-	3	340	c.271C>T	c.(271-273)Cga>Tga	p.R91*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R91*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	91					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCAGCATTTCGCAGTTGTTGC	0.338													G|||	1	0.000199681	0	0	5008	,	,		18386	0		0.001	False		,,,				2504	0					uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(271-273)Cga>Tga		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.							134	125	128					7																	50121433		2203	4300	6503	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121433G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.271C>T	7.37:g.50121433G>A	ENSP00000046087:p.Arg91*					ZPBP_uc010kyw.3_Nonsense_Mutation_p.R91*	p.R91*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			2	341	-	Glioma(55;0.08)|all_neural(89;0.245)		91					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.271C>T	CCDS5509.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.17	2.454518	0.43634	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.1	2.03	0.26663	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3442	11.5046	0.50459	0.0:0.0:0.3868:0.6132	.	.	.	.	X	91;91;52	.	.	R	-	1	2	ZPBP	50091979	0.994000	0.37717	0.653000	0.29593	0.501000	0.33797	0.292000	0.19011	0.514000	0.28300	-0.379000	0.06801	CGA		0.338	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		A	50121433	G	A	50121433	4	1	80	1	0	0	0	0	0	1	0	0	18216	1095	38	1	808	1	ZPBP	7	50121433	Nonsense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	6636366	50121433	109017230	32	5390											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181	144	157					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.R252C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1000	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221710	C	T	55221710	3	4	80	1	0	0	0	0	1	0	0	0	4967	652	23	2	780	2	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	5100277	55221710	103916953	33	5391											
CCDC146	57639	broad.mit.edu	37	chr7	76922321	76922321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgagaaaatgatggctcTtgttgctgagctgtccatga	11	12	11	7	0	1	4	0	4	1	1	2	5	2	4	1	1	3	4	1	1	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:76922321T>C	ENST00000285871.4	+	18	2595	c.2468T>C	c.(2467-2469)cTt>cCt	p.L823P	CCDC146_ENST00000431197.1_Missense_Mutation_p.L537P|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	823										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATGATGGCTCTTGTTGCTGAG	0.398																																						uc003uga.3																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(2467-2469)cTt>cCt		Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.							104	99	101					7																	76922321		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76922321T>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2468T>C	7.37:g.76922321T>C	ENSP00000285871:p.Leu823Pro					CCDC146_uc010ldp.3_Missense_Mutation_p.L537P|CCDC146_uc003ugc.3_Missense_Mutation_p.L160P	p.L823P	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			17	2595	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	823					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.2468T>C	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400391	0.62177	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.43688	0.94;0.94	5.66	5.66	0.87406	.	0.428099	0.24949	N	0.034310	T	0.60353	0.2262	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.58620	0.978;0.983	P;P	0.59889	0.837;0.865	T	0.63976	-0.6515	10	0.66056	D	0.02	-1.3257	14.7096	0.69218	0.0:0.0:0.0:1.0	.	537;823	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	P	823;537	ENSP00000285871:L823P;ENSP00000413885:L537P	ENSP00000285871:L823P	L	+	2	0	AC007000.1	76760257	0.992000	0.36948	0.989000	0.46669	0.621000	0.37620	5.137000	0.64789	2.147000	0.66899	0.460000	0.39030	CTT		0.398	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		C	76922321	T	C	76922321	3	2	80	1	0	0	0	0	1	0	0	0	2780	1609	56	4	2534	4	CCDC146	7	76922321	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	21700611	76922321	82216342	34	5392											
PCLO	27445	broad.mit.edu	37	chr7	82387898	82387898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagacatgtttcttcaatgcGtttgagtaggactgaccaaa	13	12	9	7	1	2	3	1	2	1	1	2	4	2	4	1	1	1	3	1	1	4	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:82387898G>A	ENST00000333891.9	-	25	15759	c.15422C>T	c.(15421-15423)aCg>aTg	p.T5141M		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCAATGCGTTTGAGTAGG	0.378																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(15421-15423)aCg>aTg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							271	262	265					7																	82387898		1862	4088	5950	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82387898G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15422C>T	7.37:g.82387898G>A	ENSP00000334319:p.Thr5141Met						p.T5141M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			24	15711	-			5064						Missense_Mutation	SNP	ENST00000333891.9	37	c.15422C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449970	0.43531	.	.	ENSG00000186472	ENST00000333891	T	0.18657	2.2	5.51	5.51	0.81932	.	0.122741	0.29972	U	0.010733	T	0.31513	0.0799	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.11616	-1.0580	10	0.87932	D	0	.	19.4158	0.94697	0.0:0.0:1.0:0.0	.	5141	Q9Y6V0-5	.	M	5141	ENSP00000334319:T5141M	ENSP00000334319:T5141M	T	-	2	0	PCLO	82225834	1.000000	0.71417	0.970000	0.41538	0.466000	0.32739	4.007000	0.57093	2.598000	0.87819	0.585000	0.79938	ACG		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82387898	G	A	82387898	3	1	80	1	0	0	0	0	1	0	0	0	11583	1145	40	1	10	1	PCLO	7	82387898	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	5465577	82387898	76750765	35	5393											
SLC26A3	1811	broad.mit.edu	37	chr7	107427951	107427951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagaatacagagtataGtacctacaattataaaaaca	19	11	6	5	0	0	2	0	1	0	2	0	3	0	2	1	0	4	2	1	0	11	8			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:107427951G>C	ENST00000340010.5	-	7	923	c.739C>G	c.(739-741)Cta>Gta	p.L247V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L212V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	247					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(739-741)Cta>Gta		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							74	76	75					7																	107427951		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107427951G>C	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.739C>G	7.37:g.107427951G>C	ENSP00000345873:p.Leu247Val					SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	p.L247V	NM_000111	NP_000102	P40879	S26A3_HUMAN			6	950	-			247						Missense_Mutation	SNP	ENST00000340010.5	37	c.739C>G	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906782	0.33628	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93811	-3.29;-3.29	5.4	5.4	0.78164	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	L	0.51914	1.62	0.58432	D	0.999999	D;D	0.63880	0.993;0.965	P;D	0.63877	0.839;0.919	D	0.92693	0.6168	10	0.22109	T	0.4	.	17.7246	0.88361	0.0:0.0:1.0:0.0	.	212;247	G5E9U3;P40879	.;S26A3_HUMAN	V	212;247	ENSP00000415817:L212V;ENSP00000345873:L247V	ENSP00000345873:L247V	L	-	1	2	SLC26A3	107215187	0.997000	0.39634	0.699000	0.30290	0.096000	0.18686	3.403000	0.52615	2.683000	0.91414	0.655000	0.94253	CTA		0.323	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		C	107427951	G	C	107427951	3	2	80	1	0	0	0	0	1	0	0	0	14518	1020	36	5	1615	5	SLC26A3	7	107427951	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	25040053	107427951	51710712	36	5394											
KEL	3792	broad.mit.edu	37	chr7	142649696	142649696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaagggtcaccaccagcCctaagatcatgtggctctgc	11	7	11	12	0	3	2	2	0	1	2	3	3	3	2	3	2	2	1	3	2	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:142649696C>A	ENST00000355265.2	-	10	1577	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	368					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACCACCAGCCCTAAGATCAT	0.537																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1102-1104)gGg>gTg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							93	79	83					7																	142649696		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142649696C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1103G>T	7.37:g.142649696C>A	ENSP00000347409:p.Gly368Val						p.G368V	NM_000420	NP_000411	P23276	KELL_HUMAN			9	1313	-	Melanoma(164;0.059)		368					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1103G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700067	0.68501	.	.	ENSG00000197993	ENST00000355265	T	0.73363	-0.74	5.55	4.65	0.58169	Peptidase M13 (1);	0.111381	0.40640	N	0.001058	D	0.82481	0.5046	M	0.68317	2.08	0.44789	D	0.997799	D	0.69078	0.997	D	0.70016	0.967	T	0.82894	-0.0231	10	0.72032	D	0.01	-0.3472	10.5607	0.45144	0.0:0.9111:0.0:0.0889	.	368	P23276	KELL_HUMAN	V	368	ENSP00000347409:G368V	ENSP00000347409:G368V	G	-	2	0	KEL	142359818	0.037000	0.19845	0.951000	0.38953	0.828000	0.46876	1.941000	0.40233	2.894000	0.99253	0.655000	0.94253	GGG		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142649696	C	A	142649696	3	1	80	1	0	0	0	0	1	0	0	0	8142	623	22	5	1135	5	KEL	7	142649696	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	35221745	142649696	16488967	37	5395											
KCNH2	3757	broad.mit.edu	37	chr7	150649545	150649545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagccgaagatgagcaggtCgaaggggatggcggccacca	12	3	17	9	3	0	3	0	1	0	2	1	6	0	4	3	5	2	1	3	5	2	0	rs370637245		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:150649545C>T	ENST00000262186.5	-	6	1926	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	KCNH2_ENST00000430723.3_Missense_Mutation_p.D509N|KCNH2_ENST00000330883.4_Missense_Mutation_p.D169N|KCNH2_ENST00000392968.2_Missense_Mutation_p.D413N	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	509					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ATGAGCAGGTCGAAGGGGATG	0.632																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1525-1527)Gac>Aac		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	82	70	74		1525,505,1525,505	4.7	1	7		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	23,23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	509/1160,169/549,509/889,169/820	150649545	1,13005	2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649545C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1525G>A	7.37:g.150649545C>T	ENSP00000262186:p.Asp509Asn					KCNH2_uc003wib.3_Missense_Mutation_p.D169N|KCNH2_uc011kux.2_Missense_Mutation_p.D413N|KCNH2_uc003wid.3_Missense_Mutation_p.D169N|KCNH2_uc003wie.3_Missense_Mutation_p.D509N	p.D509N	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1926	-	all_neural(206;0.219)		509					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1525G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233277	0.95207	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32	4.71	4.71	0.59529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.52099	D	0.999944	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.996;0.989;0.989;0.981	D	0.96242	0.9176	10	0.87932	D	0	.	15.1618	0.72791	0.0:1.0:0.0:0.0	.	413;509;169;509;169	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	N	169;413;509;169;509	ENSP00000328531:D169N;ENSP00000376695:D413N;ENSP00000262186:D509N;ENSP00000387657:D509N	ENSP00000262186:D509N	D	-	1	0	KCNH2	150280478	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.660000	0.83776	2.184000	0.69523	0.478000	0.44815	GAC		0.632	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		T	150649545	C	T	150649545	3	4	80	1	0	0	0	0	1	0	0	0	8032	884	31	2	2263	2	KCNH2	7	150649545	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7999849	150649545	8489118	38	5396											
CYP7B1	9420	broad.mit.edu	37	chr8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctaccaagtctccctttCgcacacagtagtccccggtc	7	10	8	16	2	1	0	0	0	1	0	5	0	2	0	4	2	1	3	4	2	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:65517309C>T	ENST00000310193.3	-	5	1336	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	388					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453																																						uc003xvj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1162-1164)cGa>cAa		Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.							143	138	139					8																	65517309		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517309C>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1163G>A	8.37:g.65517309C>T	ENSP00000310721:p.Arg388Gln						p.R388Q	NM_004820	NP_004811	O75881	CP7B1_HUMAN			4	1367	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	388					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1163G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718784	0.89205	.	.	ENSG00000172817	ENST00000310193	D	0.85484	-1.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.70787	2.145	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	D	0.92048	0.5646	10	0.87932	D	0	-14.1067	20.8794	0.99867	0.0:1.0:0.0:0.0	.	388	O75881	CP7B1_HUMAN	Q	388	ENSP00000310721:R388Q	ENSP00000310721:R388Q	R	-	2	0	CYP7B1	65679863	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA		0.453	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			T	65517309	C	T	65517309	3	4	80	1	0	0	0	0	1	0	0	0	4197	884	31	2	365	2	CYP7B1	8	65517309	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		65517309	80846713	39	5397											
RIMS2	9699	broad.mit.edu	37	chr8	104922392	104922392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacaactggttggatcataCgtcttggcatagcagtgagg	10	12	12	7	1	2	1	1	1	1	0	2	2	2	2	0	4	4	3	0	4	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:104922392C>T	ENST00000436393.2	+	3	1230	c.989C>T	c.(988-990)aCg>aTg	p.T330M	RIMS2_ENST00000406091.3_Missense_Mutation_p.T552M|RIMS2_ENST00000507740.1_Missense_Mutation_p.T360M|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	630					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGATCATACGTCTTGGCAT	0.388										HNSCC(12;0.0054)																												uc003yls.3																			0		p.T330K(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(988-990)aCg>aTg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							190	183	185					8																	104922392		1919	4124	6043	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922392C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.989C>T	8.37:g.104922392C>T	ENSP00000390665:p.Thr330Met	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.3_Missense_Mutation_p.T360M|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	p.T330M	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1230	+			630					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.989C>T		.	.	.	.	.	.	.	.	.	.	C	18.87	3.714561	0.68730	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000515551;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.19250	2.16;2.64;2.22;2.3;2.23;2.61	5.24	5.24	0.73138	.	.	.	.	.	T	0.25121	0.0610	L	0.34521	1.04	0.80722	D	1	D;P;P	0.53885	0.963;0.824;0.941	B;B;P	0.46452	0.346;0.312;0.517	T	0.01839	-1.1263	9	0.87932	D	0	.	19.1853	0.93641	0.0:1.0:0.0:0.0	.	330;360;552	D6RA03;Q9UQ26-3;F8WD47	.;.;.	M	552;583;552;360;360;360;330	ENSP00000427018:T552M;ENSP00000384892:T552M;ENSP00000425205:T360M;ENSP00000423559:T360M;ENSP00000386228:T360M;ENSP00000390665:T330M	ENSP00000332184:T583M	T	+	2	0	RIMS2	104991568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.937000	0.70162	2.610000	0.88304	0.650000	0.86243	ACG		0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	104922392	C	T	104922392	3	4	80	1	0	0	0	0	1	0	0	0	13368	536	19	1	1799	1	RIMS2	8	104922392	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	39405083	104922392	41441630	40	5398											
CSMD3	114788	broad.mit.edu	37	chr8	113988286	113988286	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatacagtaacatctgcAggtgtgctagcaacagcaat	13	9	10	9	0	1	0	0	0	1	0	1	1	1	1	0	2	7	5	0	2	5	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:113988286A>T	ENST00000297405.5	-	7	1366	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.P334P|CSMD3_ENST00000352409.3_Silent_p.P374P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAACATCTGCAGGTGTGCTAG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1120-1122)ccT>ccA		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							180	163	169					8																	113988286		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113988286A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1122T>A	8.37:g.113988286A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Silent_p.P334P|CSMD3_uc011lhx.2_Intron	p.P374P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			6	1281	-			374					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.1122T>A	CCDS6315.1																																																																																				0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113988286	A	T	113988286	2	4	80	1	0	0	0	0	0	0	0	1	3946	175	7	5		5	CSMD3	8	113988286	Silent	SNP	A	TCGA-06-2563-01A-01D-1494-08	9065894	113988286	32375736	41	5399											
COL14A1	7373	broad.mit.edu	37	chr8	121326264	121326264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgtccattcaaggaatgCccgtgagttgtgttcaaaca	10	12	10	9	1	3	1	2	1	1	0	4	2	4	2	2	1	2	2	2	1	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:121326264C>T	ENST00000297848.3	+	38	4819	c.4549C>T	c.(4549-4551)Ccc>Tcc	p.P1517S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1517S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1422S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGGAATGCCCGTGAGTTG	0.468																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4549-4551)Ccc>Tcc		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							119	111	114					8																	121326264		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121326264C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4549C>T	8.37:g.121326264C>T	ENSP00000297848:p.Pro1517Ser					COL14A1_uc003yoz.3_Missense_Mutation_p.P482S	p.P1517S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		37	4814	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1517			Triple-helical region 1 (COL2).			Missense_Mutation	SNP	ENST00000297848.3	37	c.4549C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920614	0.73213	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.93953	-3.32;-3.32;-3.32	5.97	5.97	0.96955	.	0.047611	0.85682	D	0.000000	D	0.96722	0.8930	M	0.80183	2.485	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.95825	0.8853	10	0.44086	T	0.13	.	19.1953	0.93686	0.0:1.0:0.0:0.0	.	1517	Q05707	COEA1_HUMAN	S	1517;1517;1422	ENSP00000311809:P1517S;ENSP00000297848:P1517S;ENSP00000247781:P1422S	ENSP00000247781:P1422S	P	+	1	0	COL14A1	121395445	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.960000	0.70348	2.834000	0.97654	0.650000	0.86243	CCC		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121326264	C	T	121326264	3	4	80	1	0	0	0	0	1	0	0	0	3671	739	26	3	4695	3	COL14A1	8	121326264	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7337978	121326264	25037758	42	5400											
IDE	3416	broad.mit.edu	37	chr10	94267958	94267958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaacaagagtattaacCcagcctgcaacattcaaagg	16	6	6	13	0	1	1	1	0	0	1	1	1	1	1	4	1	5	2	4	1	6	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:94267958C>G	ENST00000265986.6	-	8	1121	c.1065G>C	c.(1063-1065)tgG>tgC	p.W355C		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	355					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	GAGTATTAACCCAGCCTGCAA	0.358																																						uc001kia.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(1063-1065)tgG>tgC		Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						130	139	136					10																	94267958		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94267958C>G	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1065G>C	10.37:g.94267958C>G	ENSP00000265986:p.Trp355Cys						p.W355C	NM_004969	NP_004960	P14735	IDE_HUMAN			7	1141	-			355					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.1065G>C	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023019	0.75275	.	.	ENSG00000119912	ENST00000265986	T	0.09255	3.0	5.24	5.24	0.73138	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66697	-0.5858	10	0.87932	D	0	-5.0946	19.1951	0.93684	0.0:1.0:0.0:0.0	.	355	P14735	IDE_HUMAN	C	355	ENSP00000265986:W355C	ENSP00000265986:W355C	W	-	3	0	IDE	94257938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.615000	0.88500	0.557000	0.71058	TGG		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94267958	C	G	94267958	3	3	80	1	0	0	0	0	1	0	0	0	7493	624	22	5	2066	5	IDE	10	94267958	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		94267958	41266789	43	5401											
SLK	9748	broad.mit.edu	37	chr10	105762134	105762134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggatattaatgaaCatattaccgatgctcagtta	13	13	9	6	1	1	1	1	1	0	0	1	4	1	3	1	2	3	2	1	2	6	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:105762134C>A	ENST00000369755.3	+	9	1743	c.1198C>A	c.(1198-1200)Cat>Aat	p.H400N	SLK_ENST00000335753.4_Missense_Mutation_p.H400N	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	400	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TATTAATGAACATATTACCGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(1198-1200)Cat>Aat		Homo sapiens STE20-like kinase (SLK), mRNA.							130	139	136					10																	105762134		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762134C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1198C>A	10.37:g.105762134C>A	ENSP00000358770:p.His400Asn					SLK_uc001kxp.1_Missense_Mutation_p.H400N	p.H400N	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	8	1232	+		Colorectal(252;0.178)	400			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1198C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.591817	0.00864	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.67865	-0.29;-0.29	4.87	1.81	0.25067	Protein kinase-like domain (1);	0.599129	0.16944	N	0.193157	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19976	-1.0289	10	0.28530	T	0.3	.	3.5602	0.07880	0.1889:0.3485:0.3722:0.0903	.	400;400	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	N	400	ENSP00000336824:H400N;ENSP00000358770:H400N	ENSP00000336824:H400N	H	+	1	0	SLK	105752124	0.001000	0.12720	0.004000	0.12327	0.014000	0.08584	1.238000	0.32707	0.636000	0.30508	0.555000	0.69702	CAT		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		A	105762134	C	A	105762134	3	1	80	1	0	0	0	0	1	0	0	0	14748	478	17	5	1232	5	SLK	10	105762134	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	11494176	105762134	29772613	44	5402											
SIRT3	23410	broad.mit.edu	37	chr11	233173	233173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcctcggggtacgggagAtcgtactgctggaggttgct	6	10	17	8	3	0	1	0	0	0	1	2	3	0	2	1	6	4	5	1	6	2	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:233173A>C	ENST00000382743.4	-	3	618	c.516T>G	c.(514-516)gaT>gaG	p.D172E	SIRT3_ENST00000532956.1_Missense_Mutation_p.D172E|SIRT3_ENST00000529382.1_Missense_Mutation_p.D30E|SIRT3_ENST00000525319.1_Missense_Mutation_p.D91E|SIRT3_ENST00000524564.1_Missense_Mutation_p.D108E|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	172	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGTACGGGAGATCGTACTGCT	0.532																																						uc001lok.4																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(514-516)gaT>gaG		Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							73	76	75					11																	233173		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:233173A>C	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.516T>G	11.37:g.233173A>C	ENSP00000372191:p.Asp172Glu					SIRT3_uc001loj.4_Missense_Mutation_p.D30E|SIRT3_uc010qvm.2_Missense_Mutation_p.D108E|SIRT3_uc010qvn.2_Missense_Mutation_p.D91E|SIRT3_uc010qvo.2_Missense_Mutation_p.D172E|SIRT3_uc010qvp.2_Missense_Mutation_p.D172E|SIRT3_uc010qvq.2_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_Non-coding_Transcript	p.D172E	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	2	550	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	172			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.516T>G	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	a	6.128	0.391816	0.11581	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	5.51	0.334	0.15948	.	0.530450	0.20509	N	0.090926	T	0.14313	0.0346	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.20368	0.044;0.0;0.003;0.001;0.003	B;B;B;B;B	0.27076	0.076;0.002;0.011;0.002;0.004	T	0.24870	-1.0148	10	0.33141	T	0.24	-7.707	6.2367	0.20766	0.2883:0.1283:0.5834:0.0	.	172;172;91;108;172	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	E	172;91;108;172;30;30	ENSP00000372191:D172E;ENSP00000435464:D91E;ENSP00000432937:D108E;ENSP00000433077:D172E;ENSP00000437216:D30E;ENSP00000432857:D30E	ENSP00000372191:D172E	D	-	3	2	SIRT3	223173	0.951000	0.32395	0.001000	0.08648	0.019000	0.09904	1.716000	0.37981	-0.197000	0.10350	-0.922000	0.02736	GAT		0.532	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			C	233173	A	C	233173	3	2	80	1	0	0	0	0	1	0	0	0	14339	330	12	5	703	5	SIRT3	11	233173	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08		233173	134773343	45	5403											
OR51M1	390059	broad.mit.edu	37	chr11	5411176	5411176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttttccctactgtggatCtgtggtcctctcccactcat	4	15	8	14	0	3	0	1	0	2	0	6	1	5	1	3	3	1	1	3	3	1	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:5411176C>G	ENST00000328611.3	+	1	570	c.548C>G	c.(547-549)tCt>tGt	p.S183C	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	183					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGTGGATCTGTGGTCCTC	0.517																																						uc010qzc.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(547-549)tCt>tGt		Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.							191	182	185					11																	5411176		2005	4204	6209	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411176C>G	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.548C>G	11.37:g.5411176C>G	ENSP00000333196:p.Ser183Cys					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.S183C	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	570	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	183					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.548C>G	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326733	0.24080	.	.	ENSG00000184698	ENST00000328611	T	0.00025	8.96	5.26	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	1.326570	0.05928	N	0.634633	T	0.00384	0.0012	M	0.90483	3.12	0.09310	N	1	D	0.55385	0.971	P	0.58391	0.838	T	0.42749	-0.9433	10	0.87932	D	0	.	4.4949	0.11831	0.263:0.5285:0.1279:0.0806	.	172	Q9H341	O51M1_HUMAN	C	183	ENSP00000333196:S183C	ENSP00000333196:S183C	S	+	2	0	OR51M1	5367752	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.971000	0.03806	0.212000	0.20703	0.655000	0.94253	TCT		0.517	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		G	5411176	C	G	5411176	3	3	80	1	0	0	0	0	1	0	0	0	11103	913	32	5	550	5	OR51M1	11	5411176	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	5178003	5411176	129595340	46	5404											
VWCE	220001	broad.mit.edu	37	chr11	61048379	61048379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcggggggactcagggccCctgggtgaggaaggggtccc	6	5	20	10	1	1	1	1	1	0	0	3	3	2	3	3	8	0	0	3	8	1	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:61048379C>T	ENST00000335613.5	-	8	1502	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	372						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTCAGGGCCCCTGGGTGAGG	0.677																																						uc001nra.3																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1114-1116)agG>agA		Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.							10	13	12					11																	61048379		2198	4292	6490	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61048379C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1116G>A	11.37:g.61048379C>T						VWCE_uc001nrb.3_Non-coding_Transcript	p.R372R	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			7	1395	-			372					A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1116G>A	CCDS8002.1																																																																																				0.677	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		T	61048379	C	T	61048379	2	4	80	1	0	0	0	0	0	0	0	1	17242	622	22	3		3	VWCE	11	61048379	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	55637203	61048379	73958137	47	5405											
SCNN1A	6337	broad.mit.edu	37	chr12	6463925	6463925	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcctcacctgctgtgtGtactttgaagggtaaaggtt	7	14	13	7	0	1	1	1	1	0	0	1	1	1	1	2	3	2	4	2	3	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:6463925G>T	ENST00000228916.2	-	7	1331	c.1233C>A	c.(1231-1233)taC>taA	p.Y411*	SCNN1A_ENST00000540037.1_Nonsense_Mutation_p.Y111*|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000358945.3_Nonsense_Mutation_p.Y411*|SCNN1A_ENST00000543768.1_Nonsense_Mutation_p.Y434*|SCNN1A_ENST00000360168.3_Nonsense_Mutation_p.Y470*|SCNN1A_ENST00000396966.2_Nonsense_Mutation_p.Y411*	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	411					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTGCTGTGTGTACTTTGAAG	0.557																																						uc001qnw.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1408-1410)taC>taA		Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						109	107	108					12																	6463925		2203	4300	6503	SO:0001587	stop_gained	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6463925G>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1233C>A	12.37:g.6463925G>T	ENSP00000228916:p.Tyr411*					SCNN1A_uc001qnv.3_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnx.3_Nonsense_Mutation_p.Y411*|SCNN1A_uc010sfb.2_Nonsense_Mutation_p.Y434*	p.Y470*	NM_001159576	NP_001029	P37088	SCNNA_HUMAN			5	1674	-			411					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Nonsense_Mutation	SNP	ENST00000228916.2	37	c.1410C>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	42	9.511963	0.99192	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	.	.	.	5.17	-1.97	0.07503	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.5401	11.2808	0.49192	0.4786:0.0:0.5214:0.0	.	.	.	.	X	470;411;111;411;411;434	.	ENSP00000228916:Y411X	Y	-	3	2	SCNN1A	6334186	1.000000	0.71417	0.307000	0.25127	0.719000	0.41307	0.947000	0.29082	-0.268000	0.09312	-0.339000	0.08088	TAC		0.557	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6463925	G	T	6463925	4	4	80	1	0	0	0	0	0	1	0	0	13927	1372	48	5	804	5	SCNN1A	12	6463925	Nonsense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		6463925	127387970	48	5406											
CLEC1A	51267	broad.mit.edu	37	chr12	10224014	10224014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttctctcacagacacaaCgcttcaattctttgcagtcc	9	12	4	16	1	4	1	2	0	2	1	6	1	5	1	2	0	2	2	2	0	2	4	rs147882348		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:10224014C>T	ENST00000315330.4	-	6	823	c.761G>A	c.(760-762)cGt>cAt	p.R254H	CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162H|CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221H	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	254	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACAGACACAACGCTTCAATTC	0.488													C|||	1	0.000199681	0	0	5008	,	,		18251	0.001		0	False		,,,				2504	0					uc001qxb.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(760-762)cGt>cAt		Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.							203	180	188					12																	10224014		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10224014C>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.761G>A	12.37:g.10224014C>T	ENSP00000326407:p.Arg254His					CLEC1A_uc001qxd.3_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.2_Missense_Mutation_p.R152H	p.R254H	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			5	845	-			254			C-type lectin.		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.761G>A	CCDS8612.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.08	2.429523	0.43122	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.19532	2.14;2.14;2.14	5.33	4.41	0.53225	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.143817	0.32175	N	0.006462	T	0.32164	0.0820	L	0.39397	1.21	0.31792	N	0.629471	P;D;B	0.89917	0.922;1.0;0.449	B;D;B	0.77004	0.229;0.989;0.208	T	0.20207	-1.0282	10	0.16896	T	0.51	.	11.0975	0.48155	0.185:0.815:0.0:0.0	.	162;221;254	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	H	254;221;162	ENSP00000326407:R254H;ENSP00000415048:R221H;ENSP00000417010:R162H	ENSP00000326407:R254H	R	-	2	0	CLEC1A	10115281	0.964000	0.33143	0.933000	0.37362	0.107000	0.19398	1.452000	0.35156	1.164000	0.42652	0.563000	0.77884	CGT		0.488	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		T	10224014	C	T	10224014	3	4	80	1	0	0	0	0	1	0	0	0	3505	536	19	1	85	1	CLEC1A	12	10224014	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	3760089	10224014	123627881	49	5407											
KRT18	3875	broad.mit.edu	37	chr12	53343221	53343221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccatgcaaagcctgaaCgaccgcctggcctcttacct	10	7	9	15	2	1	2	0	1	1	1	1	4	1	2	6	1	4	1	6	1	3	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:53343221C>T	ENST00000388835.3	+	1	474	c.264C>T	c.(262-264)aaC>aaT	p.N88N	AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_Intron|KRT8_ENST00000552551.1_Intron|KRT18_ENST00000388837.2_Silent_p.N88N|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000550600.1_Silent_p.N88N	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	88	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAAGCCTGAACGACCGCCTGG	0.647																																						uc001sbe.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(262-264)aaC>aaT		Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.							26	31	29					12																	53343221		2169	4246	6415	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53343221C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.264C>T	12.37:g.53343221C>T						KRT18_uc009zmn.2_Silent_p.N88N|KRT18_uc001sbg.3_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	p.N88N	NM_199187	NP_954657	P05783	K1C18_HUMAN			1	333	+			88			Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.264C>T	CCDS31809.1																																																																																				0.647	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		T	53343221	C	T	53343221	2	4	80	1	0	0	0	0	0	0	0	1	8455	535	19	1		1	KRT18	12	53343221	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	43119207	53343221	80508674	50	5408											
PTPRR	5801	broad.mit.edu	37	chr12	71094985	71094985	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaccttgtgagaattcGgctggctgactgcagatact	9	11	12	9	1	0	4	0	3	0	3	1	6	0	4	1	2	2	3	1	2	2	3	rs368823191		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:71094985G>T	ENST00000283228.2	-	7	1578	c.1126C>A	c.(1126-1128)Cga>Aga	p.R376R	PTPRR_ENST00000440835.2_Silent_p.R131R|PTPRR_ENST00000378778.1_Silent_p.R170R|PTPRR_ENST00000342084.4_Silent_p.R264R|PTPRR_ENST00000549308.1_Silent_p.R131R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	376					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGAGAATTCGGCTGGCTGAC	0.458																																						uc001swi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1126-1128)Cga>Aga		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.							171	154	160					12																	71094985		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71094985G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1126C>A	12.37:g.71094985G>T						PTPRR_uc001swh.2_Silent_p.R131R|PTPRR_uc009zrs.3_Silent_p.R170R|PTPRR_uc010stq.2_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	p.R376R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	6	1540	-			376					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.1126C>A	CCDS8998.1																																																																																				0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71094985	G	T	71094985	2	4	80	1	0	0	0	0	0	0	0	1	12810	1124	39	5		5	PTPRR	12	71094985	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	17751764	71094985	62756910	51	5409											
WSCD2	9671	broad.mit.edu	37	chr12	108600179	108600179	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacaactgtgctgaaCggtagggtcccagcatccca	10	6	12	13	1	0	1	0	1	0	0	2	2	2	2	3	3	4	3	3	3	3	1	rs567916978		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:108600179C>T	ENST00000332082.4	+	4	1314	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	WSCD2_ENST00000547525.1_Splice_Site_p.R166W|WSCD2_ENST00000549903.1_Splice_Site_p.R166W|WSCD2_ENST00000261400.3_Splice_Site_p.R166W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	166	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTGCTGAACGGTAGGGTCC	0.527													C|||	1	0.000199681	0	0	5008	,	,		21946	0		0	False		,,,				2504	0.001					uc001tms.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.e3+1		Homo sapiens WSC domain containing 2 (WSCD2), mRNA.							56	57	56					12																	108600179		1953	4136	6089	SO:0001630	splice_region_variant	9671					integral to membrane		g.chr12:108600179C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.497+1C>T	12.37:g.108600179C>T						WSCD2_uc001tmt.3_Splice_Site_p.R166_splice	p.R166_splice	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			3	1241	+			166			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.497_splice	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910939	0.72983	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.29	4.38	0.52667	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76052	-0.3100	10	0.56958	D	0.05	-28.5793	13.7944	0.63162	0.1546:0.8454:0.0:0.0	.	166	Q2TBF2	WSCD2_HUMAN	W	166;166;13;166;166	ENSP00000448047:R166W;ENSP00000261400:R166W;ENSP00000446744:R13W;ENSP00000331933:R166W;ENSP00000447272:R166W	ENSP00000261400:R166W	R	+	1	2	WSCD2	107124309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.771000	0.55318	1.193000	0.43086	0.650000	0.86243	CGG		0.527	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	Missense_Mutation	T	108600179	C	T	108600179	5	4	80	1	0	0	0	0	0	0	1	0	17404	550	19	1	502	1	WSCD2	12	108600179	Splice_Site	SNP	C	TCGA-06-2563-01A-01D-1494-08	37505194	108600179	25251716	52	5410											
TMEM132D	121256	broad.mit.edu	37	chr12	130184469	130184469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccacgctgttgtccagaCgcagttctctcagggagggt	6	10	14	11	2	2	1	1	0	1	1	4	2	3	2	2	3	0	4	2	3	0	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:130184469C>T	ENST00000422113.2	-	2	1180	c.854G>A	c.(853-855)cGt>cAt	p.R285H	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	285					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTGTCCAGACGCAGTTCTCT	0.522																																						uc009zyl.1																			0		p.L284R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(853-855)cGt>cAt		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							100	96	97					12																	130184469		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184469C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.854G>A	12.37:g.130184469C>T	ENSP00000408581:p.Arg285His						p.R285H	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	1182	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	285					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.854G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773186	0.31411	.	.	ENSG00000151952	ENST00000422113	T	0.13538	2.58	5.17	3.32	0.38043	.	0.309908	0.25848	N	0.027907	T	0.16981	0.0408	M	0.75447	2.3	0.21984	N	0.999434	B	0.26002	0.139	B	0.19946	0.027	T	0.10823	-1.0613	9	.	.	.	-12.9116	12.286	0.54793	0.0:0.8544:0.0:0.1456	.	285	Q14C87	T132D_HUMAN	H	285	ENSP00000408581:R285H	.	R	-	2	0	TMEM132D	128750422	0.009000	0.17119	0.833000	0.33012	0.032000	0.12392	0.261000	0.18442	1.294000	0.44707	0.650000	0.86243	CGT		0.522	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	130184469	C	T	130184469	3	4	80	1	0	0	0	0	1	0	0	0	16044	536	19	1	2477	1	TMEM132D	12	130184469	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	21584290	130184469	3667426	53	5411											
FAM70B	348013	broad.mit.edu	37	chr13	114502323	114502323	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctctaggaaccgaggccCctcaccacgggaagatgcca	10	7	10	14	2	2	1	1	0	1	1	3	4	2	3	5	3	2	0	5	3	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr13:114502323C>G	ENST00000375353.3	+	5	381	c.354C>G	c.(352-354)ccC>ccG	p.P118P		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	118						integral component of membrane (GO:0016021)											AACCGAGGCCCCTCACCACGG	0.542																																						uc001vuh.3																			0				upper_aerodigestive_tract(1)	1						c.(352-354)ccC>ccG		Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.							107	92	97					13																	114502323		2203	4300	6503	SO:0001819	synonymous_variant	348013					integral to membrane		g.chr13:114502323C>G	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.354C>G	13.37:g.114502323C>G							p.P118P	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		4	381	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	118						Silent	SNP	ENST00000375353.3	37	c.354C>G	CCDS45071.1																																																																																				0.542	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		G	114502323	C	G	114502323	2	3	80	1	0	0	0	0	0	0	0	1	5606	610	22	5		5	FAM70B	13	114502323	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08		114502323	667555	54	5412											
OR11H6	122748	broad.mit.edu	37	chr14	20692418	20692418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattgttcttatctcccaaCttcccttctgtgggcccaac	6	15	5	15	0	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	4	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:20692418C>A	ENST00000315519.2	+	1	628	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTCCCAACTTCCCTTCTG	0.507																																						uc010tlc.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(550-552)Ctt>Att		Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.							95	92	93					14																	20692418		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692418C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.550C>A	14.37:g.20692418C>A	ENSP00000319071:p.Leu184Ile						p.L184I	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	0	550	+	all_cancers(95;0.00108)		184					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.550C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071990	0.36566	.	.	ENSG00000176219	ENST00000315519	T	0.00285	8.3	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000352	T	0.00580	0.0019	M	0.84948	2.725	0.26123	N	0.980522	P	0.45902	0.868	P	0.52758	0.708	T	0.36648	-0.9739	10	0.66056	D	0.02	.	15.4745	0.75468	0.0:1.0:0.0:0.0	.	184	Q8NGC7	O11H6_HUMAN	I	184	ENSP00000319071:L184I	ENSP00000319071:L184I	L	+	1	0	OR11H6	19762258	0.006000	0.16342	1.000000	0.80357	0.223000	0.24884	0.588000	0.23924	2.506000	0.84524	0.289000	0.19496	CTT		0.507	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			A	20692418	C	A	20692418	3	1	80	1	0	0	0	0	1	0	0	0	10929	565	20	5	552	5	OR11H6	14	20692418	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		20692418	86657122	55	5413											
RPL10L	140801	broad.mit.edu	37	chr14	47120841	47120841	+	Frame_Shift_Del	DEL	G	G	-																															ttctttctacccaggtcaaaGatgcggatcttggcatcagg																										TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:47120841delG	ENST00000298283.3	-	1	187	c.99delC	c.(97-99)atcfs	p.I33fs		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	33					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.I33I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAGGTCAAAGATGCGGATCT	0.537																																						uc001wwg.3																			1	Substitution - coding silent(1)	p.I33I(2)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(97-99)atcfs		Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.							107	109	108					14																	47120841		2203	4300	6503	SO:0001589	frameshift_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120841delG	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.99delC	14.37:g.47120841delG	ENSP00000298283:p.Ile33fs						p.I33fs	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			0	188	-			33					Q8IUD1	Frame_Shift_Del	DEL	ENST00000298283.3	37	c.99delC	CCDS32071.1																																																																																				0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			-	47120841	G	-	47120841	7	5	80	1	0	1	0	1	0	0	0	0	13556	932	33	0	549	0	RPL10L	14	47120841	Frame_Shift_Del	DEL	G	TCGA-06-2563-01A-01D-1494-08	26428423	47120841	60228699	56	5414											
MAPKBP1	23005	broad.mit.edu	37	chr15	42106769	42106769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctcttctctggagtggcGaatgccaggtatccagacac	8	9	11	13	2	2	1	0	0	2	1	4	3	3	2	3	3	1	1	3	3	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42106769G>A	ENST00000456763.2	+	11	1216	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAPKBP1_ENST00000457542.2_Silent_p.A334A|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000514566.1_Silent_p.A334A|MAPKBP1_ENST00000260357.7_Silent_p.A222A	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	340										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGAGTGGCGAATGCCAGGT	0.488																																						uc001zok.4																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1018-1020)gcG>gcA		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							212	177	189					15																	42106769		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42106769G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1020G>A	15.37:g.42106769G>A						MAPKBP1_uc010bci.3_Silent_p.A334A|MAPKBP1_uc010udb.2_Silent_p.A222A|MAPKBP1_uc001zoj.4_Silent_p.A334A|MAPKBP1_uc010bcj.3_Intron|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	p.A340A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	10	1306	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	340					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1020G>A	CCDS45239.1																																																																																				0.488	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42106769	G	A	42106769	2	1	80	1	0	0	0	0	0	0	0	1	9292	1045	37	2		2	MAPKBP1	15	42106769	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08		42106769	60424623	57	5415											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111074	42111074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcagcatgaggcagcGtctggccgagttgcgccagc	8	6	14	13	3	2	1	1	1	1	0	2	3	2	1	3	2	4	3	3	2	0	1	rs534654016		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42111074G>A	ENST00000456763.2	+	21	2424	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R737H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R620H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R737H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R576H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	743								p.R737H(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAGGCAGCGTCTGGCCGAG	0.602																																						uc001zok.4																			1	Substitution - Missense(1)	p.R737H(1)	large_intestine(1)	breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2227-2229)cGt>cAt		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							63	55	58					15																	42111074		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42111074G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2228G>A	15.37:g.42111074G>A	ENSP00000393099:p.Arg743His					MAPKBP1_uc010bci.3_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.2_Missense_Mutation_p.R576H|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.3_Missense_Mutation_p.R244H|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.R244H	p.R743H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	20	2514	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	743					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2228G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426476	0.83667	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.51574	0.9;1.01;0.7;0.95;1.06	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.34521	1.04	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.812;1.0;1.0;1.0	D;B;D;D;D	0.91635	0.999;0.388;0.996;0.998;0.999	T	0.49551	-0.8928	10	0.20046	T	0.44	-12.2992	19.3625	0.94446	0.0:0.0:1.0:0.0	.	576;620;737;743;737	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	H	737;620;576;743;737	ENSP00000397570:R737H;ENSP00000221214:R620H;ENSP00000260357:R576H;ENSP00000393099:R743H;ENSP00000426154:R737H	ENSP00000221214:R620H	R	+	2	0	MAPKBP1	39898366	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.577000	0.98196	2.673000	0.90976	0.556000	0.70494	CGT		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42111074	G	A	42111074	3	1	80	1	0	0	0	0	1	0	0	0	9292	1145	40	1	2306	1	MAPKBP1	15	42111074	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	4305	42111074	60420318	58	5416											
ATP8B4	79895	broad.mit.edu	37	chr15	50339659	50339659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgatgtgtggatacgattAtcctggaaaagaaatagcat	14	12	10	5	2	0	1	0	0	0	1	2	5	1	3	1	2	2	1	1	2	6	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:50339659A>T	ENST00000284509.6	-	4	231	c.90T>A	c.(88-90)gaT>gaA	p.D30E	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Missense_Mutation_p.D30E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	30						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D30D(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGATACGATTATCCTGGAAAA	0.373																																						uc001zxu.3																			1	Substitution - coding silent(1)	p.D30D(2)|p.A29V(1)|p.A29A(1)	breast(1)	breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(88-90)gaT>gaA		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							86	89	88					15																	50339659		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50339659A>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.90T>A	15.37:g.50339659A>T	ENSP00000284509:p.Asp30Glu					ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	p.D30E	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	3	232	-		all_lung(180;0.00183)	30					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.90T>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923065	0.52653	.	.	ENSG00000104043	ENST00000284509	T	0.79033	-1.23	5.3	-1.59	0.08453	.	0.192865	0.43110	N	0.000618	T	0.62588	0.2440	L	0.42008	1.315	0.43095	D	0.994773	B	0.30179	0.271	B	0.29524	0.103	T	0.44143	-0.9347	10	0.36615	T	0.2	.	5.7141	0.17950	0.5408:0.1376:0.3216:0.0	.	30	Q8TF62	AT8B4_HUMAN	E	30	ENSP00000284509:D30E	ENSP00000284509:D30E	D	-	3	2	ATP8B4	48126951	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	0.840000	0.27600	-0.301000	0.08882	-0.353000	0.07706	GAT		0.373	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50339659	A	T	50339659	3	4	80	1	0	0	0	0	1	0	0	0	1197	446	16	5	3588	5	ATP8B4	15	50339659	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	8228585	50339659	52191733	59	5417											
PTX4	390667	broad.mit.edu	37	chr16	1536134	1536134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgaaggcctcggagctgtCgaatccgccccccacgctgt	7	6	11	17	5	0	0	0	0	0	0	3	3	1	1	5	2	1	2	5	2	2	0	rs149572258		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:1536134C>T	ENST00000447419.2	-	3	1268	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	PTX4_ENST00000293922.1_Missense_Mutation_p.D410N|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	415	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCGGAGCTGTCGAATCCGCCC	0.652																																						uc010uvf.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1228-1230)Gac>Aac		Homo sapiens pentraxin 4, long (PTX4), mRNA.							59	57	58					16																	1536134		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1536134C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1243G>A	16.37:g.1536134C>T	ENSP00000445277:p.Asp415Asn						p.D410N	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			2	1228	-			415			Pentaxin.			Missense_Mutation	SNP	ENST00000447419.2	37	c.1228G>A		.	.	.	.	.	.	.	.	.	.	C	17.52	3.409570	0.62399	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.08546	3.08;3.08	4.93	4.93	0.64822	.	0.268623	0.32836	N	0.005583	T	0.13372	0.0324	M	0.70275	2.135	0.58432	D	0.999998	P	0.36144	0.539	B	0.34346	0.18	T	0.01574	-1.1321	10	0.87932	D	0	.	15.6732	0.77295	0.0:1.0:0.0:0.0	.	410	Q96A99-2	.	N	415;410	ENSP00000445277:D415N;ENSP00000293922:D410N	ENSP00000293922:D410N	D	-	1	0	PTX4	1476135	0.961000	0.32948	0.987000	0.45799	0.021000	0.10359	1.821000	0.39041	2.569000	0.86673	0.563000	0.77884	GAC		0.652	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1536134	C	T	1536134	3	4	80	1	0	0	0	0	1	0	0	0	12823	884	31	2	196	2	PTX4	16	1536134	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		1536134	88818619	60	5418											
SRRM2	23524	broad.mit.edu	37	chr16	2817214	2817214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccagcagccaaccttGccagcaggattcctgcagcc	9	5	9	18	1	0	0	0	0	0	0	1	1	1	1	7	1	7	4	7	1	1	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:2817214G>C	ENST00000301740.8	+	11	7234	c.6685G>C	c.(6685-6687)Gcc>Ccc	p.A2229P	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2229	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCAACCTTGCCAGCAGGAT	0.612																																						uc002crk.3																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6685-6687)Gcc>Ccc		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							53	60	58					16																	2817214		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817214G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6685G>C	16.37:g.2817214G>C	ENSP00000301740:p.Ala2229Pro					SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P	p.A2229P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	7234	+			2229			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6685G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410402	0.42715	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79454	-1.27	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000005	T	0.82121	0.4968	L	0.32530	0.975	0.38378	D	0.945041	D	0.71674	0.998	D	0.80764	0.994	T	0.82216	-0.0567	10	0.40728	T	0.16	-12.825	15.5894	0.76512	0.0:0.0:1.0:0.0	.	2229	Q9UQ35	SRRM2_HUMAN	P	2229;1481	ENSP00000301740:A2229P	ENSP00000301740:A2229P	A	+	1	0	SRRM2	2757215	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.707000	0.54838	2.761000	0.94854	0.655000	0.94253	GCC		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2817214	G	C	2817214	3	2	80	1	0	0	0	0	1	0	0	0	15168	1319	46	5	6723	5	SRRM2	16	2817214	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	1281080	2817214	87537539	61	5419											
DNAH3	55567	broad.mit.edu	37	chr16	21033373	21033373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaatttacaatgaaggCgaccaaattccaggcagggc	16	6	9	10	1	0	1	0	1	0	0	1	2	1	1	2	3	2	1	2	3	6	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:21033373C>T	ENST00000261383.3	-	40	5695	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1899	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATGAAGGCGACCAAATTC	0.458																																						uc010vbe.2																			0		p.R1899C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5695-5697)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							121	98	106					16																	21033373		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21033373C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5696G>A	16.37:g.21033373C>T	ENSP00000261383:p.Arg1899His						p.R1899H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	39	5696	-			1899			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5696G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116151	0.37339	.	.	ENSG00000158486	ENST00000261383	T	0.27720	1.65	4.92	2.96	0.34315	.	0.415829	0.25094	N	0.033196	T	0.33235	0.0856	M	0.78801	2.425	0.32317	N	0.562965	B	0.21821	0.061	B	0.12156	0.007	T	0.38607	-0.9653	10	0.54805	T	0.06	.	9.5891	0.39534	0.0:0.749:0.0:0.251	.	1899	Q8TD57	DYH3_HUMAN	H	1899	ENSP00000261383:R1899H	ENSP00000261383:R1899H	R	-	2	0	DNAH3	20940874	0.627000	0.27129	0.157000	0.22605	0.985000	0.73830	1.152000	0.31663	0.486000	0.27676	0.462000	0.41574	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21033373	C	T	21033373	3	4	80	1	0	0	0	0	1	0	0	0	4603	768	27	1	6745	1	DNAH3	16	21033373	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	18216159	21033373	69321380	62	5420											
POLR2A	5430	broad.mit.edu	37	chr17	7404279	7404279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtggagaatggggaGctgatcatgggcatcctgtg	7	10	19	5	0	1	2	1	1	0	1	2	4	2	3	1	6	1	2	1	6	1	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7404279G>A	ENST00000322644.6	+	12	2301	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	634					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				agaatggggagctgatcatgg	0.557																																						uc002ghf.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1900-1902)gaG>gaA		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.							229	186	201					17																	7404279		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404279G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1902G>A	17.37:g.7404279G>A							p.E634E	NM_000937	NP_000928	P24928	RPB1_HUMAN			11	2288	+		Prostate(122;0.173)	634					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.1902G>A	CCDS32548.1																																																																																				0.557	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7404279	G	A	7404279	2	1	80	1	0	0	0	0	0	0	0	1	12214	962	34	3		3	POLR2A	17	7404279	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08		7404279	73790931	63	5421											
TP53	7157	broad.mit.edu	37	chr17	7578541	7578541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcaaaacatcttgttgAgggcaggggagtactgtagg	10	10	16	5	0	1	1	0	1	1	0	1	2	1	2	0	5	2	6	0	5	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7578541A>G	ENST00000269305.4	-	5	578	c.389T>C	c.(388-390)cTc>cCc	p.L130P	TP53_ENST00000359597.4_Missense_Mutation_p.L130P|TP53_ENST00000455263.2_Missense_Mutation_p.L130P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.L130P|TP53_ENST00000420246.2_Missense_Mutation_p.L130P|TP53_ENST00000445888.2_Missense_Mutation_p.L130P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L130R(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.L130H(3)|p.L130fs*41(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.Y126fs*18(1)|p.L130P(1)|p.S127_Q136del10(1)|p.L130fs*39(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.L130del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATCTTGTTGAGGGCAGGGGA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		43	Deletion - In frame(14)|Substitution - Missense(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L130R(14)|p.Y126_K132delYSPALNK(12)|p.L130V(11)|p.L130F(10)|p.0?(8)|p.L130H(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130fs*41(4)|p.S127_Q136del10(2)|p.A129_N131delALN(2)|p.L130P(2)|p.L130fs*19(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.N131fs*27(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.Y126fs*11(1)|p.A129_L130insXX(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.A129G(1)|p.A129D(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(1)	central_nervous_system(5)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|ovary(3)|adrenal_gland(2)|stomach(2)|urinary_tract(2)|lung(2)|oesophagus(2)|liver(2)|biliary_tract(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(388-390)cTc>cCc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							45	45	45					17																	7578541		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578541A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.389T>C	17.37:g.7578541A>G	ENSP00000269305:p.Leu130Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.3_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91P	p.L130P	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	130		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.389T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540535	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.48	4.39	0.52855	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.98;1.0;1.0;1.0	D	0.97125	0.9814	10	0.87932	D	0	-29.0594	10.3045	0.43672	0.8522:0.0:0.0:0.1478	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130P;ENSP00000352610:L130P;ENSP00000269305:L130P;ENSP00000398846:L130P;ENSP00000391127:L130P;ENSP00000391478:L130P;ENSP00000423862:L37P;ENSP00000424104:L130P	ENSP00000269305:L130P	L	-	2	0	TP53	7519266	1.000000	0.71417	0.950000	0.38849	0.757000	0.42996	9.240000	0.95396	0.993000	0.38866	-0.336000	0.08194	CTC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578541	A	G	7578541	3	3	80	1	0	0	0	0	1	0	0	0	16378	304	11	4	909	4	TP53	17	7578541	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	174262	7578541	73616669	64	5422											
C17orf39	79018	broad.mit.edu	37	chr17	17943061	17943061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtgtcccccgccggccGgtgcctccgctgcctccgcg	1	6	13	21	7	0	0	0	0	0	0	3	1	3	0	9	2	2	1	9	2	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:17943061G>A	ENST00000268719.4	+	1	456	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	ATPAF2_ENST00000474627.3_5'Flank|GID4_ENST00000376345.3_Missense_Mutation_p.G95S|ATPAF2_ENST00000585101.1_5'Flank	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	95	Pro-rich.																CCCGCCGGCCGGTGCCTCCGC	0.766																																						uc002gsg.1																			0				large_intestine(2)|lung(1)|ovary(2)|skin(1)	6						c.(283-285)Ggt>Agt		Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.							4	5	5					17																	17943061		2018	3854	5872	SO:0001583	missense	79018							g.chr17:17943061G>A	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"vacuolar import and degradation 24"		"chromosome 17 open reading frame 39", "GID complex subunit 4, VID24 homolog (S. cerevisiae)"	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.283G>A	17.37:g.17943061G>A	ENSP00000268719:p.Gly95Ser					ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank	p.G95S	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN			0	451	+	all_neural(463;0.228)		95			Pro-rich.		Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.283G>A	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	G	7.664	0.685628	0.14973	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	3.94	3.94	0.45596	.	0.444911	0.21671	N	0.070880	T	0.22704	0.0548	N	0.14661	0.345	0.37642	D	0.922093	P	0.46912	0.886	B	0.32533	0.147	T	0.14254	-1.0479	9	0.13853	T	0.58	-3.0565	11.762	0.51910	0.0:0.1786:0.8214:0.0	.	95	Q8IVV7	CQ039_HUMAN	S	95;12	.	ENSP00000268719:G95S	G	+	1	0	C17orf39	17883786	0.999000	0.42202	1.000000	0.80357	0.370000	0.29829	2.854000	0.48325	2.022000	0.59522	0.555000	0.69702	GGT		0.766	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		A	17943061	G	A	17943061	3	1	80	1	0	0	0	0	1	0	0	0	1855	1116	39	2	285	2	C17orf39	17	17943061	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	10364520	17943061	63252149	65	5423											
KCNJ12	3768	broad.mit.edu	37	chr17	21319772	21319772	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcctgctgcccagcgccaActccttctgctacgagaacg	7	9	9	16	3	1	1	0	0	1	1	3	2	3	1	4	0	7	3	4	0	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:21319772A>T	ENST00000583088.1	+	3	2013	c.1118A>T	c.(1117-1119)aAc>aTc	p.N373I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.N373I	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	373					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCAGCGCCAACTCCTTCTGC	0.622										Prostate(3;0.18)																												uc021tss.1																			0											c.(1117-1119)aAc>aTc		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.							90	84	86					17																	21319772		2203	4300	6503	SO:0001583	missense	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319772A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1118A>T	17.37:g.21319772A>T	ENSP00000463778:p.Asn373Ile					KCNJ18_uc002gyv.1_Missense_Mutation_p.N373I|KCNJ18_uc021tst.1_Missense_Mutation_p.N373I	p.N373I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	1488	+			373					O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1118A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.914810	0.52546	.	.	ENSG00000184185	ENST00000331718	D	0.93604	-3.25	5.65	-0.702	0.11265	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.424839	0.28538	N	0.014994	D	0.94305	0.8170	M	0.68317	2.08	0.49051	D	0.999741	P	0.42620	0.785	P	0.59357	0.856	D	0.90639	0.4573	10	0.38643	T	0.18	.	9.9258	0.41492	0.5916:0.0:0.4084:0.0	.	373	Q14500	IRK12_HUMAN	I	373	ENSP00000328150:N373I	ENSP00000328150:N373I	N	+	2	0	KCNJ12	21260365	1.000000	0.71417	0.795000	0.32087	0.542000	0.35054	2.893000	0.48633	-0.378000	0.07918	-0.263000	0.10527	AAC		0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319772	A	T	21319772	3	4	80	1	0	0	0	0	1	0	0	0	8046	43	2	5	1120	5	KCNJ12	17	21319772	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	3376711	21319772	59875438	66	5424											
ACACA	31	broad.mit.edu	37	chr17	35614745	35614745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaacattcttattgctgCggaaatttagctcctgaact	11	13	6	11	1	1	1	0	1	1	0	2	2	2	2	2	1	5	2	2	1	5	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:35614745C>T	ENST00000394406.2	-	14	1785	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	ACACA_ENST00000353139.5_Missense_Mutation_p.R569H|ACACA_ENST00000335166.5_Missense_Mutation_p.R454H|ACACA_ENST00000360679.3_Missense_Mutation_p.R474H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	532	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTATTGCTGCGGAAATTTAG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1594-1596)cGc>cAc		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						90	87	88					17																	35614745		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614745C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1595G>A	17.37:g.35614745C>T	ENSP00000377928:p.Arg532His					ACACA_uc002hnk.3_Missense_Mutation_p.R454H|ACACA_uc002hnl.3_Missense_Mutation_p.R474H|ACACA_uc002hnn.3_Missense_Mutation_p.R532H|ACACA_uc002hno.3_Missense_Mutation_p.R569H|ACACA_uc010cuz.3_Missense_Mutation_p.R532H	p.R532H	NM_198836	NP_942135	Q13085	ACACA_HUMAN			13	1786	-		Breast(25;0.00157)|Ovarian(249;0.15)	532			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1595G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572684	0.96553	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.93	5.93	0.95920	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.944;0.997;0.995	D	0.84797	0.0782	10	0.87932	D	0	-10.0728	19.3421	0.94347	0.0:1.0:0.0:0.0	.	569;532;474	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	569;474;532;556;454	ENSP00000344789:R569H;ENSP00000353898:R474H;ENSP00000377928:R532H;ENSP00000335323:R454H	ENSP00000335323:R454H	R	-	2	0	ACACA	32688858	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGC		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35614745	C	T	35614745	3	4	80	1	0	0	0	0	1	0	0	0	106	768	27	1	5617	1	ACACA	17	35614745	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	14294973	35614745	45580465	67	5425											
KRT33A	3883	broad.mit.edu	37	chr17	39503142	39503142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccagggcattgaccgtgCgtctcagctcgatgatctcc	6	11	10	14	3	3	2	1	2	3	0	7	3	3	2	3	1	2	2	3	1	0	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39503142C>T	ENST00000007735.3	-	5	874	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	277	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ATTGACCGTGCGTCTCAGCTC	0.582																																						uc002hwk.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(829-831)cGc>cAc		Homo sapiens keratin 33A (KRT33A), mRNA.							152	135	141					17																	39503142		2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503142C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.830G>A	17.37:g.39503142C>T	ENSP00000007735:p.Arg277His						p.R277H	NM_004138	NP_004129	O76009	KT33A_HUMAN			4	867	-		Breast(137;0.000496)	277			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.830G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070969	0.76301	.	.	ENSG00000006059	ENST00000007735	D	0.90504	-2.68	4.4	4.4	0.53042	Filament (1);	0.000000	0.64402	D	0.000004	D	0.91845	0.7419	M	0.64080	1.96	0.39285	D	0.964626	P	0.35821	0.523	P	0.45343	0.477	D	0.93554	0.6889	10	0.72032	D	0.01	.	16.4957	0.84242	0.0:1.0:0.0:0.0	.	277	O76009	KT33A_HUMAN	H	277	ENSP00000007735:R277H	ENSP00000007735:R277H	R	-	2	0	KRT33A	36756668	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	2.824000	0.48088	2.424000	0.82194	0.655000	0.94253	CGC		0.582	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		T	39503142	C	T	39503142	3	4	80	1	0	0	0	0	1	0	0	0	8469	768	27	1	396	1	KRT33A	17	39503142	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	3888397	39503142	41692068	68	5426											
KRT19	3880	broad.mit.edu	37	chr17	39681243	39681243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcgcagagcctgttccGtctcaaacctttcaaaggaa	11	10	8	12	2	3	1	3	0	1	1	5	2	4	2	3	1	3	2	3	1	3	2	rs138005000		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39681243G>A	ENST00000361566.3	-	3	572	c.512C>T	c.(511-513)aCg>aTg	p.T171M	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	171	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				AGCCTGTTCCGTCTCAAACCT	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		19038	0		0	False		,,,				2504	0					uc010wfs.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1000-1002)aCg>aTg		Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	76	79	78		512	2.8	0.9	17	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT19	NM_002276.4	81	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		171/401	39681243	3,13003	2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39681243G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.512C>T	17.37:g.39681243G>A	ENSP00000355124:p.Thr171Met					JUP_uc002hxd.4_Missense_Mutation_p.T171M	p.T334M	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	5	1009	-		Breast(137;0.000162)	0					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.1001C>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877320	0.33162	4.54E-4	1.16E-4	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89485	-2.52;-2.52	4.83	2.84	0.33178	Filament (1);	0.135740	0.33650	N	0.004690	D	0.91365	0.7276	M	0.67517	2.055	0.28835	N	0.89693	B;D	0.76494	0.047;0.999	B;D	0.67725	0.017;0.953	D	0.84944	0.0867	10	0.66056	D	0.02	.	6.3112	0.21166	0.1536:0.0:0.6995:0.1469	.	334;171	B4DE59;P08727	.;K1C19_HUMAN	M	171;140	ENSP00000355124:T171M;ENSP00000408759:T140M	ENSP00000355124:T171M	T	-	2	0	KRT19	36934769	0.831000	0.29352	0.885000	0.34714	0.218000	0.24690	1.106000	0.31098	0.645000	0.30675	0.462000	0.41574	ACG		0.587	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		A	39681243	G	A	39681243	3	1	80	1	0	0	0	0	1	0	0	0	8456	1145	40	1	706	1	KRT19	17	39681243	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	178101	39681243	41513967	69	5427											
EPN3	55040	broad.mit.edu	37	chr17	48614388	48614388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcgcatggcactggaGggcatcggcattggcagtgg	9	6	18	8	2	0	0	0	0	0	0	1	2	0	2	0	7	1	5	0	7	1	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:48614388G>A	ENST00000268933.3	+	2	1050	c.471G>A	c.(469-471)gaG>gaA	p.E157E	EPN3_ENST00000537145.1_Silent_p.E212E|EPN3_ENST00000541226.1_Silent_p.E101E|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	157						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGGCACTGGAGGGCATCGGCA	0.657																																						uc010wms.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(634-636)gaG>gaA		Homo sapiens epsin 3 (EPN3), mRNA.							35	25	29					17																	48614388		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48614388G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.471G>A	17.37:g.48614388G>A						EPN3_uc002ira.4_Silent_p.E157E|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.E157E	p.E212E			Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	824	+	Breast(11;1.23e-18)		157					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.636G>A	CCDS11570.1																																																																																				0.657	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48614388	G	A	48614388	2	1	80	1	0	0	0	0	0	0	0	1	5187	991	35	3		3	EPN3	17	48614388	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	8933145	48614388	32580822	70	5428											
APBA3	9546	broad.mit.edu	37	chr19	3759564	3759564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggacactcaccctccTggggggcagggtaggaagcc	7	4	18	12	1	1	0	1	0	0	0	2	2	2	2	3	7	1	2	3	7	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:3759564T>C	ENST00000316757.3	-	3	811	c.611A>G	c.(610-612)cAg>cGg	p.Q204R	AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	204					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCCTCCTGGGGGGCAGG	0.632																																						uc002lyp.1																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(610-612)cAg>cGg		Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.							10	12	11					19																	3759564		2180	4280	6460	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3759564T>C	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.611A>G	19.37:g.3759564T>C	ENSP00000315136:p.Gln204Arg						p.Q204R	NM_004886	NP_004877	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	788	-		Hepatocellular(1079;0.137)	204					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.611A>G	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	T	8.751	0.921327	0.17982	.	.	ENSG00000011132	ENST00000316757	T	0.06528	3.29	4.7	-0.155	0.13395	.	1.362370	0.04905	N	0.452040	T	0.03827	0.0108	N	0.17474	0.49	0.20489	N	0.999899	B	0.14805	0.011	B	0.08055	0.003	T	0.44498	-0.9324	10	0.13853	T	0.58	.	4.2232	0.10568	0.0:0.2049:0.3759:0.4192	.	204	O96018	APBA3_HUMAN	R	204	ENSP00000315136:Q204R	ENSP00000315136:Q204R	Q	-	2	0	APBA3	3710564	0.235000	0.23794	0.986000	0.45419	0.978000	0.69477	0.283000	0.18846	-0.053000	0.13289	0.459000	0.35465	CAG		0.632	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			C	3759564	T	C	3759564	3	2	80	1	0	0	0	0	1	0	0	0	758	1580	55	4	1152	4	APBA3	19	3759564	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08		3759564	55369419	71	5429											
CLPP	8192	broad.mit.edu	37	chr19	6366351	6366351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacatctacgccaagcacaCcaaacagagcctgcaggtga	15	5	8	13	1	1	2	0	1	1	1	1	2	1	2	3	1	6	2	3	1	4	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6366351C>T	ENST00000245816.4	+	5	761	c.638C>T	c.(637-639)aCc>aTc	p.T213I	CLPP_ENST00000596605.1_3'UTR|CLPP_ENST00000596149.1_Missense_Mutation_p.T126I	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	213					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						GCCAAGCACACCAAACAGAGC	0.557																																						uc002mem.1																			0		p.T213A(1)		endometrium(2)|large_intestine(2)|ovary(2)	6						c.(637-639)aCc>aTc		Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.							177	133	148					19																	6366351		2202	4300	6502	SO:0001583	missense	8192				proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	g.chr19:6366351C>T	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"ATPases / AAA-type"	2084	protein-coding gene	gene with protein product	"ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"	601119	"ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog", "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)", "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.638C>T	19.37:g.6366351C>T	ENSP00000245816:p.Thr213Ile						p.T213I	NM_006012	NP_006003	Q16740	CLPP_HUMAN			4	761	+			213					B2R4W5	Missense_Mutation	SNP	ENST00000245816.4	37	c.638C>T	CCDS12162.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553148	0.86127	.	.	ENSG00000125656	ENST00000245816	.	.	.	5.5	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90183	0.4244	9	0.87932	D	0	-54.7966	13.5845	0.61921	0.0:0.9237:0.0:0.0763	.	213	Q16740	CLPP_HUMAN	I	213	.	ENSP00000245816:T213I	T	+	2	0	CLPP	6317351	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.952000	0.75989	1.490000	0.48466	0.650000	0.86243	ACC		0.557	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012		T	6366351	C	T	6366351	3	4	80	1	0	0	0	0	1	0	0	0	3552	507	18	3	656	3	CLPP	19	6366351	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	2606787	6366351	52762632	72	5430											
VAV1	7409	broad.mit.edu	37	chr19	6772889	6772889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgcccagccaccgcgtgaCctgggatggggctcaggtgt	5	6	16	14	3	1	1	1	1	0	0	1	2	1	2	5	4	1	1	5	4	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6772889C>A	ENST00000602142.1	+	1	153	c.71C>A	c.(70-72)aCc>aAc	p.T24N	VAV1_ENST00000539284.1_5'Flank|VAV1_ENST00000596764.1_Missense_Mutation_p.T24N|VAV1_ENST00000304076.2_Missense_Mutation_p.T24N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	24	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGCGTGACCTGGGATGGG	0.662																																						uc002mfu.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(70-72)aCc>aAc		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							91	68	76					19																	6772889		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6772889C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.71C>A	19.37:g.6772889C>A	ENSP00000472929:p.Thr24Asn					VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	p.T24N	NM_005428	NP_005419	P15498	VAV_HUMAN			0	168	+			24			CH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.71C>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.758424	0.69763	.	.	ENSG00000141968	ENST00000304076	T	0.60548	0.18	4.18	4.18	0.49190	Calponin homology domain (5);	0.000000	0.64402	U	0.000006	T	0.67515	0.2901	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.997;0.997	T	0.62959	-0.6743	10	0.17832	T	0.49	.	13.9942	0.64386	0.0:1.0:0.0:0.0	.	24;24	B2R8B5;P15498	.;VAV_HUMAN	N	24	ENSP00000302269:T24N	ENSP00000302269:T24N	T	+	2	0	VAV1	6723889	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.309000	0.59135	1.870000	0.54199	0.306000	0.20318	ACC		0.662	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			A	6772889	C	A	6772889	3	1	80	1	0	0	0	0	1	0	0	0	17128	507	18	5	73	5	VAV1	19	6772889	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	406538	6772889	52356094	73	5431											
CYP4F8	11283	broad.mit.edu	37	chr19	15730340	15730340	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtcttctacaagacccTgaagccctggctgggtaagt	10	10	10	11	0	2	2	0	1	2	1	2	2	2	2	2	2	2	2	2	2	5	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:15730340T>C	ENST00000441682.2	+	0	447							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACAAGACCCTGAAGCCCTGG	0.537																																						uc002nbi.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						c.(382-384)cTg>cCg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.							67	69	68					19																	15730340		2109	4237	6346			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15730340T>C	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730340T>C						CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	p.L128P	NM_007253	NP_009184	P98187	CP4F8_HUMAN			3	447	+			128						Missense_Mutation	SNP	ENST00000441682.2	37	c.383T>C		.	.	.	.	.	.	.	.	.	.	.	12.15	1.851236	0.32699	.	.	ENSG00000186526	ENST00000441682	.	.	.	3.05	3.05	0.35203	.	0.209787	0.31031	U	0.008394	T	0.71643	0.3364	.	.	.	.	.	.	D	0.89917	1.0	D	0.80764	0.994	T	0.80030	-0.1553	7	0.87932	D	0	.	9.48	0.38895	0.0:0.0:0.0:1.0	.	128	P98187	CP4F8_HUMAN	P	128	.	ENSP00000409702:L128P	L	+	2	0	CYP4F8	15591340	1.000000	0.71417	0.761000	0.31378	0.084000	0.17831	5.502000	0.66956	1.405000	0.46838	0.338000	0.21704	CTG		0.537	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		C	15730340	T	C	15730340	1	2	80	0	1	0	0	0	0	0	0	0	4191	1580	55	4		4	CYP4F8	19	15730340	RNA	SNP	T	TCGA-06-2563-01A-01D-1494-08	8957451	15730340	43398643	74	5432											
PSG7	5676	broad.mit.edu	37	chr19	43433692	43433692	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagtttgtgacaccaaatAggtagagggtcctgttggtt	10	14	12	5	0	0	2	0	1	0	1	1	2	1	2	2	3	0	4	2	3	5	7			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:43433692A>T	ENST00000406070.2	-	0	707				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GACACCAAATAGGTAGAGGGT	0.522																																						uc002ovl.4																			0											c.(607-609)cTa>cAa		Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.							293	300	297					19																	43433692		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433692A>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433692A>T						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.L82Q	p.L203Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN			3	710	-		Prostate(69;0.00682)	204			Ig-like C2-type 1.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.608T>A																																																																																					0.522	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		T	43433692	A	T	43433692	1	4	80	0	1	0	0	0	0	0	0	0	12660	420	15	5		5	PSG7	19	43433692	RNA	SNP	A	TCGA-06-2563-01A-01D-1494-08	27703352	43433692	15695291	75	5433											
MYBPC2	4606	broad.mit.edu	37	chr19	50945481	50945481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccaagtggacagaggCaacaagatcaagttgatggt	14	7	12	8	0	1	3	1	1	0	2	1	4	1	4	2	3	2	2	2	3	5	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:50945481C>A	ENST00000357701.5	+	9	864	c.813C>A	c.(811-813)ggC>ggA	p.G271G		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	271	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGACAGAGGCAACAAGATCA	0.522																																						uc002psf.2																			0				breast(1)	1						c.(811-813)ggC>ggA		Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.							71	74	73					19																	50945481		2046	4188	6234	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50945481C>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.813C>A	19.37:g.50945481C>A							p.G271G	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	864	+		all_neural(266;0.057)	271			Ig-like C2-type 2.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.813C>A	CCDS46152.1																																																																																				0.522	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50945481	C	A	50945481	2	1	80	1	0	0	0	0	0	0	0	1	10012	697	25	5		5	MYBPC2	19	50945481	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	7511789	50945481	8183502	76	5434											
TGM3	7053	broad.mit.edu	37	chr20	2298103	2298103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actacgaccccatgggaaacCccctggacaagggtagtgat	12	6	11	12	1	0	1	0	1	0	0	0	4	0	3	4	3	2	1	4	3	4	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:2298103C>A	ENST00000381458.5	+	7	1018	c.955C>A	c.(955-957)Ccc>Acc	p.P319T	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	319					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATGGGAAACCCCCTGGACAA	0.507																																						uc002wfx.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(955-957)Ccc>Acc		Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	L-Glutamine(DB00130)						214	200	205					20																	2298103		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2298103C>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.955C>A	20.37:g.2298103C>A	ENSP00000370867:p.Pro319Thr						p.P319T	NM_003245	NP_003236	Q08188	TGM3_HUMAN			6	1052	+			319					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.955C>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114327	0.01799	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.48836	0.8	5.44	5.44	0.79542	Transglutaminase-like (2);	0.347123	0.31113	N	0.008232	T	0.29524	0.0736	N	0.21240	0.645	0.09310	N	1	P	0.46952	0.887	B	0.42851	0.4	T	0.30966	-0.9960	10	0.02654	T	1	.	10.0508	0.42214	0.0:0.9118:0.0:0.0882	.	319	Q08188	TGM3_HUMAN	T	319	ENSP00000370867:P319T	ENSP00000370867:P319T	P	+	1	0	TGM3	2246103	0.275000	0.24201	0.245000	0.24217	0.861000	0.49209	2.313000	0.43735	2.832000	0.97577	0.655000	0.94253	CCC		0.507	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		A	2298103	C	A	2298103	3	1	80	1	0	0	0	0	1	0	0	0	15828	623	22	5	981	5	TGM3	20	2298103	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		2298103	60727417	77	5435											
FAM65C	140876	broad.mit.edu	37	chr20	49221267	49221267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgcccatagaaaacttgCccgtggggctgggtgacacc	8	8	13	12	1	0	2	0	1	0	1	0	2	0	2	3	3	4	2	3	3	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:49221267C>T	ENST00000327979.2	-	12	1400	c.989G>A	c.(988-990)gGc>gAc	p.G330D	FAM65C_ENST00000045083.2_Missense_Mutation_p.G330D|FAM65C_ENST00000535356.1_Missense_Mutation_p.G334D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	330										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAAACTTGCCCGTGGGGCT	0.592																																						uc010zyt.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1000-1002)gGc>gAc		Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.							44	43	43					20																	49221267		2203	4300	6503	SO:0001583	missense	140876							g.chr20:49221267C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.989G>A	20.37:g.49221267C>T	ENSP00000332663:p.Gly330Asp					FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G330D|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	p.G334D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			11	1252	-			330					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.1001G>A	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	7.536	0.659749	0.14645	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02103	4.45;4.45;4.45	3.95	0.277	0.15668	.	0.545187	0.17312	N	0.178855	T	0.01976	0.0062	N	0.22421	0.69	0.22666	N	0.998872	B;B	0.32071	0.355;0.302	B;B	0.38562	0.276;0.215	T	0.50346	-0.8839	10	0.17832	T	0.49	-9.1157	8.3104	0.32068	0.1637:0.3255:0.5108:0.0	.	334;330	F5H0X2;Q96MK2	.;FA65C_HUMAN	D	330;330;334	ENSP00000332663:G330D;ENSP00000045083:G330D;ENSP00000439802:G334D	ENSP00000045083:G330D	G	-	2	0	FAM65C	48654674	0.496000	0.26059	0.097000	0.21041	0.253000	0.25986	0.654000	0.24918	0.189000	0.20188	0.561000	0.74099	GGC		0.592	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			T	49221267	C	T	49221267	3	4	80	1	0	0	0	0	1	0	0	0	5601	739	26	3	1895	3	FAM65C	20	49221267	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	46923164	49221267	13804253	78	5436											
TRPM2	7226	broad.mit.edu	37	chr21	45789188	45789188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcggagtcgccacctggGgcactgtccaccgccgcgag	6	5	13	17	5	0	0	0	0	0	0	3	2	1	1	6	3	0	1	6	3	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr21:45789188G>A	ENST00000397928.1	+	5	1178	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TRPM2_ENST00000300482.5_Missense_Mutation_p.G245S|TRPM2_ENST00000397932.2_Missense_Mutation_p.G245S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G245S|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	245					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCCACCTGGGGCACTGTCCA	0.667																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(733-735)Ggc>Agc		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							51	44	46					21																	45789188		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45789188G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.733G>A	21.37:g.45789188G>A	ENSP00000381023:p.Gly245Ser					TRPM2_uc002zet.1_Missense_Mutation_p.G245S|TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	p.G245S	NM_003307	NP_003298	O94759	TRPM2_HUMAN			4	833	+			245					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.733G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055679	0.93793	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	3.51	3.51	0.40186	.	0.000000	0.85682	U	0.000000	T	0.47078	0.1426	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60383	-0.7274	10	0.87932	D	0	-32.1457	15.576	0.76387	0.0:0.0:1.0:0.0	.	245;245	E9PGK7;O94759	.;TRPM2_HUMAN	S	245	ENSP00000300482:G245S;ENSP00000381023:G245S;ENSP00000300481:G245S;ENSP00000381026:G245S	ENSP00000300481:G245S	G	+	1	0	TRPM2	44613616	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.363000	0.79516	1.951000	0.56629	0.467000	0.42956	GGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45789188	G	A	45789188	3	1	80	1	0	0	0	0	1	0	0	0	16583	1232	43	3	751	3	TRPM2	21	45789188	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		45789188	2340707	79	5437											
ZBED4	9889	broad.mit.edu	37	chr22	50280049	50280049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccattaacgagatgtcCgtcgagtgtaacttccgaga	11	9	12	9	4	0	2	0	0	0	2	3	5	2	2	3	1	2	1	3	1	2	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr22:50280049C>T	ENST00000216268.5	+	2	3216	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	913						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGAGATGTCCGTCGAGTGTA	0.587																																						uc003bix.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2737-2739)tcC>tcT		Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.							100	80	87					22																	50280049		2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280049C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2739C>T	22.37:g.50280049C>T						ZBED4_uc021wrx.1_Silent_p.S913S	p.S913S	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	1	3209	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	913					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2739C>T	CCDS33677.1																																																																																				0.587	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		T	50280049	C	T	50280049	2	4	80	1	0	0	0	0	0	0	0	1	17517	639	23	2		2	ZBED4	22	50280049	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08		50280049	1024517	80	5438											
CXorf23	256643	broad.mit.edu	37	chrX	19968952	19968952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttctttcaatgtcatgtCgtaggtcatttggatctatt	7	18	8	8	1	5	0	3	0	2	0	6	1	5	1	1	2	0	1	1	2	3	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:19968952C>T	ENST00000379682.4	-	7	1697	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CXorf23_ENST00000379687.3_Missense_Mutation_p.R555Q|CXorf23_ENST00000356980.3_Missense_Mutation_p.R555Q			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	555						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATGTCATGTCGTAGGTCATT	0.368																																						uc004czp.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(1663-1665)cGa>cAa		Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.							258	184	209					X																	19968952		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19968952C>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1664G>A	X.37:g.19968952C>T	ENSP00000369004:p.Arg555Gln					CXorf23_uc011mjg.2_Missense_Mutation_p.R120Q|CXorf23_uc004czo.3_Missense_Mutation_p.R505Q	p.R555Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			6	1664	-			555					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1664G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.701502	0.88924	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.60672	0.17;0.17;0.17	5.35	5.35	0.76521	.	.	.	.	.	T	0.75221	0.3820	M	0.78049	2.395	0.36651	D	0.877418	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.69824	0.918;0.938;0.966	T	0.80797	-0.1222	8	.	.	.	.	14.9912	0.71390	0.0:1.0:0.0:0.0	.	266;555;555	B7ZLM9;A2AJT9-2;A2AJT9	.;.;CX023_HUMAN	Q	555;555;555;443	ENSP00000369009:R555Q;ENSP00000369004:R555Q;ENSP00000349470:R555Q	.	R	-	2	0	CXorf23	19878873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	2.377000	0.81083	0.600000	0.82982	CGA		0.368	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		T	19968952	C	T	19968952	3	4	80	1	0	0	0	0	1	0	0	0	4103	884	31	2	404	2	CXorf23	23	19968952	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		19968952	135301608	81	5439											
OPHN1	4983	broad.mit.edu	37	chrX	67421527	67421527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcttccttctcacacagTacttcagtgttaagtccaag	9	13	6	13	1	3	0	2	0	2	0	6	0	5	0	3	0	1	2	3	0	3	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:67421527T>C	ENST00000355520.5	-	11	1600	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	OPHN1_ENST00000540071.1_Missense_Mutation_p.Y320C	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	320	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTCACACAGTACTTCAGTGT	0.418																																						uc004dww.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(958-960)tAc>tGc		Homo sapiens oligophrenin 1 (OPHN1), mRNA.							148	124	132					X																	67421527		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67421527T>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.959A>G	X.37:g.67421527T>C	ENSP00000347710:p.Tyr320Cys					OPHN1_uc011mpg.2_Missense_Mutation_p.Y320C	p.Y320C	NM_002547	NP_002538	O60890	OPHN1_HUMAN			10	1253	-			320			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.959A>G	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220154	0.58560	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.42900	0.96;0.96	4.82	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.119013	0.64402	D	0.000019	T	0.32315	0.0825	N	0.14661	0.345	0.34465	D	0.702146	D;P	0.61697	0.99;0.875	P;P	0.50192	0.634;0.533	T	0.50233	-0.8852	10	0.87932	D	0	.	7.8403	0.29395	0.0:0.0:0.2079:0.7921	.	320;320	F5H2E3;O60890	.;OPHN1_HUMAN	C	320	ENSP00000347710:Y320C;ENSP00000438617:Y320C	ENSP00000347710:Y320C	Y	-	2	0	OPHN1	67338252	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.915000	0.56409	1.900000	0.55004	0.486000	0.48141	TAC		0.418	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		C	67421527	T	C	67421527	3	2	80	1	0	0	0	0	1	0	0	0	10875	1638	57	4	1505	4	OPHN1	23	67421527	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	47452575	67421527	87849033	82	5440											
LPAR4	2846	broad.mit.edu	37	chrX	78011289	78011289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaactgttgttttgaccCtttcatctattacttcaccc	7	18	4	12	0	4	2	2	2	2	0	4	2	4	2	2	0	2	2	2	0	3	7			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:78011289C>A	ENST00000435339.3	+	2	1309	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	308					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTTTTGACCCTTTCATCTAT	0.418																																						uc022bzj.1																			0		p.D307N(1)|p.D307Y(1)|p.D307H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(922-924)cCt>cAt		Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.							197	159	172					X																	78011289		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011289C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.923C>A	X.37:g.78011289C>A	ENSP00000408205:p.Pro308His					LPAR4_uc010nme.3_Missense_Mutation_p.P308H	p.P308H	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			0	923	+			308					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.923C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212509	0.58452	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	D;D	0.98807	-5.15;-5.15	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.99423	0.9796	H	0.97732	4.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98220	1.0477	10	0.87932	D	0	.	13.9688	0.64225	0.0:1.0:0.0:0.0	.	308	Q99677	LPAR4_HUMAN	H	308	ENSP00000408205:P308H;ENSP00000362398:P308H	ENSP00000362398:P308H	P	+	2	0	LPAR4	77897945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.233000	0.78125	1.832000	0.53329	0.422000	0.28245	CCT		0.418	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		A	78011289	C	A	78011289	3	1	80	1	0	0	0	0	1	0	0	0	8907	681	24	5	925	5	LPAR4	23	78011289	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	10589762	78011289	77259271	83	5441											
POF1B	79983	broad.mit.edu	37	chrX	84634326	84634326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgctcatacactacatttTtttctggaggctgctgggct	6	15	9	11	1	2	0	1	0	1	0	3	1	2	1	0	3	3	4	0	3	2	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:84634326T>C	ENST00000262753.4	-	2	279	c.134A>G	c.(133-135)aAa>aGa	p.K45R	POF1B_ENST00000373145.3_Missense_Mutation_p.K45R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	45						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CACTACATTTTTTTCTGGAGG	0.577																																						uc004eer.2																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(133-135)aAa>aGa		Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.							82	66	72					X																	84634326		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634326T>C	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.134A>G	X.37:g.84634326T>C	ENSP00000262753:p.Lys45Arg					POF1B_uc004ees.3_Missense_Mutation_p.K45R	p.K45R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			1	280	-			45					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.134A>G	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845058	0.51164	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.11169	2.8;2.8	5.67	5.67	0.87782	.	0.000000	0.49916	D	0.000130	T	0.10981	0.0268	L	0.47716	1.5	0.27846	N	0.940913	P;P	0.40731	0.728;0.59	B;B	0.36378	0.223;0.223	T	0.15235	-1.0444	10	0.87932	D	0	.	11.1407	0.48400	0.0:0.0:0.0:1.0	.	45;45	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	R	45	ENSP00000262753:K45R;ENSP00000362238:K45R	ENSP00000262753:K45R	K	-	2	0	POF1B	84520982	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.338000	0.33873	1.903000	0.55091	0.437000	0.28790	AAA		0.577	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		C	84634326	T	C	84634326	3	2	80	1	0	0	0	0	1	0	0	0	12182	1841	64	4	1699	4	POF1B	23	84634326	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	6623037	84634326	70636234	84	5442											
GUCY2F	2986	broad.mit.edu	37	chrX	108673542	108673542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatttctcataccatttcGaacacatcacttgctcttga	12	14	4	11	1	3	2	2	1	2	1	5	3	3	2	1	0	3	1	1	0	3	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:108673542G>A	ENST00000218006.2	-	8	2076	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388																																						uc022cch.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(1783-1785)ttC>ttT		Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.							197	196	197					X																	108673542		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108673542G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1785C>T	X.37:g.108673542G>A						GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.F595F	p.F595F	NM_001522	NP_001513	P51841	GUC2F_HUMAN			6	1870	-			595			Protein kinase.		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.1785C>T	CCDS14545.1																																																																																				0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108673542	G	A	108673542	2	1	80	1	0	0	0	0	0	0	0	1	6898	1049	37	2		2	GUCY2F	23	108673542	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	24039216	108673542	46597018	85	5443											
LAMP2	3920	broad.mit.edu	37	chrX	119565295	119565295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcacaaggaagttgtcGtcatctgcactgcagtcttg	9	11	12	9	1	3	0	1	0	2	0	4	1	3	1	0	2	2	4	0	2	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:119565295G>A	ENST00000200639.4	-	9	1252	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	372	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGAAGTTGTCGTCATCTGCAC	0.438																																						uc004ess.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15								Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.							167	152	157					X																	119565295		2203	4300	6503	SO:0001819	synonymous_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119565295G>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1116C>T	X.37:g.119565295G>A						LAMP2_uc004est.4_Silent_p.D372D|LAMP2_uc011mtz.2_Intron		NM_001122606	NP_001116078	P13473	LAMP2_HUMAN					-								A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37		CCDS14599.1																																																																																				0.438	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			A	119565295	G	A	119565295	2	1	80	1	0	0	0	0	0	0	0	1	8618	1136	40	1		1	LAMP2	23	119565295	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	10891753	119565295	35705265	86	5444											
GRIA3	2892	broad.mit.edu	37	chrX	122532507	122532507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacatctgcattgacacaCgacgcaatactggtcatagc	13	10	7	11	2	2	1	1	1	1	0	2	2	2	1	0	1	4	2	0	1	5	5	rs148850386	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:122532507C>T	ENST00000371251.1	+	7	985	c.933C>T	c.(931-933)caC>caT	p.H311H	GRIA3_ENST00000264357.5_Silent_p.H311H|GRIA3_ENST00000542149.1_Silent_p.H311H|GRIA3_ENST00000541091.1_Silent_p.H295H|GRIA3_ENST00000371256.5_Silent_p.H311H			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	311					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CATTGACACACGACGCAATAC	0.423																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(931-933)caC>caT		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)	C	,	2,3833		0,1,1,1631,570	95	76	83		933,933	-4	0.1	X	dbSNP_134	83	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	GRIA3	NM_000828.4,NM_007325.4	,	0,1,1,4059,2442	TT,TC,T,CC,C		0.0,0.0522,0.0189	,	311/895,311/895	122532507	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122532507C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.933C>T	X.37:g.122532507C>T						GRIA3_uc004etr.4_Silent_p.H311H|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.H295H	p.H311H	NM_007325	NP_015564	P42263	GRIA3_HUMAN			6	1225	+			311					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.933C>T	CCDS14604.1																																																																																				0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		T	122532507	C	T	122532507	2	4	80	1	0	0	0	0	0	0	0	1	6769	535	19	1		1	GRIA3	23	122532507	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	2967212	122532507	32738053	87	5445											
SMARCA1	6594	broad.mit.edu	37	chrX	128657225	128657225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcttcggtggccgcGgcggccgctccctcctcctg	0	8	16	17	6	0	0	0	0	0	0	4	0	3	0	5	6	0	2	5	6	0	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:128657225G>A	ENST00000371122.4	-	1	252	c.123C>T	c.(121-123)gcC>gcT	p.A41A	SMARCA1_ENST00000478420.1_5'Flank|SMARCA1_ENST00000371123.1_Silent_p.A41A|SMARCA1_ENST00000371121.3_Silent_p.A41A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	41					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGTGGCCGCGGCGGCCGCTC	0.667																																						uc011muk.1																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(121-123)gcC>gcT		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.							114	98	103					X																	128657225		2202	4300	6502	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128657225G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.123C>T	X.37:g.128657225G>A						SMARCA1_uc004eun.4_Silent_p.A41A|SMARCA1_uc004eup.4_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	p.A41A	NM_003069	NP_003060	P28370	SMCA1_HUMAN			0	236	-			41					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.123C>T	CCDS14612.1																																																																																				0.667	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		A	128657225	G	A	128657225	2	1	80	1	0	0	0	0	0	0	0	1	14768	1103	39	2		2	SMARCA1	23	128657225	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	6124718	128657225	26613335	88	5446											
ZNF280C	55609	broad.mit.edu	37	chrX	129370597	129370598	+	Frame_Shift_Del	DEL	TG	TG	-																															gaaggatgtttcaacacataTgaagtatttttcatacctac																										TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:129370597_129370598delTG	ENST00000370978.4	-	7	662_663	c.509_510delCA	c.(508-510)tcafs	p.S170fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	170	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACACATATGAAGTATTTTT	0.312																																						uc004evm.3																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(508-510)tcafs		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.																																				SO:0001589	frameshift_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370597_129370598delTG	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.509_510delCA	X.37:g.129370597_129370598delTG	ENSP00000360017:p.Ser170fs					ZNF280C_uc010nrf.2_Frame_Shift_Del_p.S170fs	p.S170fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			6	712_713	-			170			Ser-rich.		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	c.509_510delCA	CCDS14622.1																																																																																				0.312	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		-	129370598	TG	-	129370597	7	5	80	1	0	1	0	1	0	0	0	0	17813	1451	51	0	1755	0	ZNF280C	23	129370597	Frame_Shift_Del	DEL	TG	TCGA-06-2563-01A-01D-1494-08	713372	129370597	25899963	89	5447											
MAGEC1	9947	broad.mit.edu	37	chrX	140995644	140995644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgtgagctccttcccCtcctccacttcatcgagtct	5	13	6	17	1	2	1	1	1	1	0	8	2	7	1	6	0	1	1	6	0	0	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:140995644C>T	ENST00000285879.4	+	4	2740	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	818										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTTCCCCTCCTCCACTT	0.557										HNSCC(15;0.026)																												uc004fbt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2452-2454)ccC>ccT		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							138	143	142					X																	140995644		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995644C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2454C>T	X.37:g.140995644C>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.P477P	p.P818P	NM_005462	NP_005453	O60732	MAGC1_HUMAN			3	2778	+	Acute lymphoblastic leukemia(192;6.56e-05)		818					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2454C>T	CCDS35417.1																																																																																				0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140995644	C	T	140995644	2	4	80	1	0	0	0	0	0	0	0	1	9180	668	24	3		3	MAGEC1	23	140995644	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	11625047	140995644	14274916	90	5448											
AFF2	2334	broad.mit.edu	37	chrX	148035181	148035181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggcagctccagcgaatCggagagcagctctgagtcgg	8	8	14	11	3	2	2	0	1	2	1	5	4	3	2	1	3	4	4	1	3	1	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:148035181C>T	ENST00000370460.2	+	10	1948	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	AFF2_ENST00000370457.5_Missense_Mutation_p.S457L|AFF2_ENST00000342251.3_Missense_Mutation_p.S457L|AFF2_ENST00000286437.5_Missense_Mutation_p.S131L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	490					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCGAATCGGAGAGCAGC	0.557																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1468-1470)tCg>tTg		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							107	105	105					X																	148035181		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035181C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1469C>T	X.37:g.148035181C>T	ENSP00000359489:p.Ser490Leu					AFF2_uc004fcq.3_Missense_Mutation_p.S480L|AFF2_uc004fcr.3_Missense_Mutation_p.S451L|AFF2_uc011mxb.2_Missense_Mutation_p.S455L|AFF2_uc004fcs.3_Missense_Mutation_p.S457L|AFF2_uc011mxc.2_Missense_Mutation_p.S131L	p.S490L	NM_002025	NP_002016	P51816	AFF2_HUMAN			9	1948	+	Acute lymphoblastic leukemia(192;6.56e-05)		490					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1469C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157487	0.78114	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87470	0.6185	M	0.83312	2.635	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997;0.998	D	0.88543	0.3111	10	0.52906	T	0.07	.	18.1034	0.89513	0.0:1.0:0.0:0.0	.	131;455;457;451;480;490	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	L	490;457;457;131	ENSP00000359489:S490L;ENSP00000359486:S457L;ENSP00000345459:S457L;ENSP00000286437:S131L	ENSP00000286437:S131L	S	+	2	0	AFF2	147842881	1.000000	0.71417	0.965000	0.40720	0.193000	0.23685	6.996000	0.76263	2.211000	0.71520	0.600000	0.82982	TCG		0.557	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	148035181	C	T	148035181	3	4	80	1	0	0	0	0	1	0	0	0	357	893	31	2	1562	2	AFF2	23	148035181	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7039537	148035181	7235379	91	5449											
CELA3A	10136	broad.mit.edu	37	chr1	22333423	22333423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagctgggagatgccGtccagctcgcctcactccct	5	7	11	18	3	1	1	1	0	0	1	4	2	3	1	5	1	3	2	5	1	0	0	rs533686702		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:22333423G>A	ENST00000290122.3	+	5	434	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.V139I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGAGATGCCGTCCAGCTCGC	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		17525	0		0	False		,,,				2504	0					uc001bfl.3																			1	Substitution - Missense(1)	p.V139I(1)	large_intestine(1)	breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(415-417)Gtc>Atc		Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.							119	104	109					1																	22333423		2199	4300	6499	SO:0001583	missense	10136				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22333423G>A	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.415G>A	1.37:g.22333423G>A	ENSP00000290122:p.Val139Ile						p.V139I	NM_005747	NP_005738	P08861	CEL3B_HUMAN			4	434	+			139			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.415G>A	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723327	0.15439	.	.	ENSG00000142789	ENST00000290122;ENST00000374661	D	0.90844	-2.74	3.83	3.83	0.44106	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.88862	0.6552	N	0.13299	0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84607	0.0676	9	0.11182	T	0.66	-73.4051	13.3543	0.60619	0.0:0.0:1.0:0.0	.	139	P09093	CEL3A_HUMAN	I	139;155	ENSP00000290122:V139I	ENSP00000290122:V139I	V	+	1	0	CELA3A	22206010	1.000000	0.71417	0.775000	0.31657	0.129000	0.20672	3.026000	0.49689	1.958000	0.56883	0.400000	0.26472	GTC		0.627	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		A	22333423	G	A	22333423	3	1	81	1	0	0	0	0	1	0	0	0	3213	1145	40	1	433	1	CELA3A	1	22333423	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		22333423	226917198	1	5450											
EPB41	2035	broad.mit.edu	37	chr1	29344851	29344851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtctgaactgggagactacGacccagaactccatggcgtg	11	7	12	11	2	1	3	0	1	1	2	2	5	2	3	2	2	3	0	2	2	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:29344851G>A	ENST00000343067.4	+	7	1148	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EPB41_ENST00000349460.4_Missense_Mutation_p.D132N|EPB41_ENST00000373798.1_Missense_Mutation_p.D341N|EPB41_ENST00000347529.3_Missense_Mutation_p.D306N|EPB41_ENST00000373797.1_Missense_Mutation_p.D341N|EPB41_ENST00000373800.3_Missense_Mutation_p.D132N|EPB41_ENST00000398863.2_Missense_Mutation_p.D341N|EPB41_ENST00000356093.2_Missense_Mutation_p.D341N	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	341	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GGGAGACTACGACCCAGAACT	0.468																																						uc001brm.2																			0		p.V340V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1021-1023)Gac>Aac		Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.							147	132	137					1																	29344851		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29344851G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1021G>A	1.37:g.29344851G>A	ENSP00000345259:p.Asp341Asn					EPB41_uc001brg.2_Missense_Mutation_p.D132N|EPB41_uc001brh.2_Missense_Mutation_p.D132N|EPB41_uc001brj.2_Missense_Mutation_p.D132N|EPB41_uc001bri.2_Missense_Mutation_p.D306N|EPB41_uc009vtk.2_Missense_Mutation_p.D306N|EPB41_uc001brk.3_Missense_Mutation_p.D341N|EPB41_uc001brl.2_Missense_Mutation_p.D341N|EPB41_uc021okg.1_Missense_Mutation_p.D341N|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.D132N	p.D341N	NM_001166005	NP_001159477	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	6	1148	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	341			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1021G>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775696	0.96922	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.51	5.51	0.81932	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.044729	0.85682	D	0.000000	D	0.84683	0.5526	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.985;0.999;0.998;0.997;0.999;0.997;0.992;0.999;0.997	P;D;P;D;D;D;D;D;D	0.72982	0.832;0.949;0.861;0.915;0.915;0.949;0.957;0.979;0.915	D	0.86268	0.1659	10	0.87932	D	0	.	18.4244	0.90604	0.0:0.0:1.0:0.0	.	341;341;341;341;341;358;306;132;132	E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	N	358;341;341;341;235;341;132;132;306;341;341	ENSP00000345259:D341N;ENSP00000348397:D341N;ENSP00000381839:D341N;ENSP00000317597:D132N;ENSP00000362906:D132N;ENSP00000290100:D306N;ENSP00000362904:D341N;ENSP00000362903:D341N	ENSP00000345259:D341N	D	+	1	0	EPB41	29217438	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.606000	0.88127	0.650000	0.86243	GAC		0.468	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		A	29344851	G	A	29344851	3	1	81	1	0	0	0	0	1	0	0	0	5151	1058	37	2	1043	2	EPB41	1	29344851	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7011428	29344851	219905770	2	5451											
EIF2C3	192669	broad.mit.edu	37	chr1	36505436	36505436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcagatactgtgccacaGtaagagttcagagaccccga	14	6	10	11	1	1	3	1	0	0	3	1	5	1	3	3	0	3	3	3	0	3	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:36505436G>A	ENST00000373191.4	+	15	2237	c.1888G>A	c.(1888-1890)Gta>Ata	p.V630I	AGO3_ENST00000246314.6_Missense_Mutation_p.V396I	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	630	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CTGTGCCACAGTAAGAGTTCA	0.383																																						uc001bzp.3																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33						c.(1888-1890)Gta>Ata		Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.							107	99	102					1																	36505436		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36505436G>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1888G>A	1.37:g.36505436G>A	ENSP00000362287:p.Val630Ile					EIF2C3_uc001bzq.3_Missense_Mutation_p.V396I	p.V630I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			14	2233	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	630			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.1888G>A	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594754	0.96602	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.31769	1.48;1.48	6.16	6.16	0.99307	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.58969	1.84	0.80722	D	1	P	0.41313	0.745	P	0.61477	0.889	T	0.38067	-0.9678	10	0.51188	T	0.08	-50.9661	20.8598	0.99761	0.0:0.0:1.0:0.0	.	630	Q9H9G7	AGO3_HUMAN	I	630;396	ENSP00000362287:V630I;ENSP00000246314:V396I	ENSP00000246314:V396I	V	+	1	0	EIF2C3	36278023	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTA		0.383	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36505436	G	A	36505436	3	1	81	1	0	0	0	0	1	0	0	0	5007	1029	36	3	1946	3	EIF2C3	1	36505436	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7160585	36505436	212745185	3	5452											
EPHA10	284656	broad.mit.edu	37	chr1	38197175	38197175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggatctgaaagacgtagCgggtagccggcttcaggttg	8	8	15	10	4	2	2	1	1	1	1	2	3	2	3	2	4	2	4	2	4	3	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:38197175C>T	ENST00000373048.4	-	7	1570	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.R19H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R524H|EPHA10_ENST00000330210.7_Missense_Mutation_p.R19H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	524	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACGTAGCGGGTAGCCGG	0.592																																						uc009vvi.3																			0		p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1570-1572)cGc>cAc		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							102	104	103					1																	38197175		1915	4123	6038	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197175C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1571G>A	1.37:g.38197175C>T	ENSP00000362139:p.Arg524His					EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	p.R524H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			6	1657	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	524			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1571G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725837	0.48833	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.77098	-1.07;0.4;-1.07;0.4	4.77	3.78	0.43462	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001308	T	0.73458	0.3589	N	0.25485	0.75	0.21473	N	0.999679	D	0.69078	0.997	P	0.56088	0.791	T	0.63355	-0.6656	9	.	.	.	.	9.8966	0.41322	0.3428:0.6572:0.0:0.0	.	524	Q5JZY3	EPHAA_HUMAN	H	19;524;19;524	ENSP00000330379:R19H;ENSP00000397746:R524H;ENSP00000441822:R19H;ENSP00000362139:R524H	.	R	-	2	0	EPHA10	37969762	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.183000	0.42565	2.459000	0.83118	0.563000	0.77884	CGC		0.592	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38197175	C	T	38197175	3	4	81	1	0	0	0	0	1	0	0	0	5166	768	27	1	1499	1	EPHA10	1	38197175	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	1691739	38197175	211053446	4	5453											
GBP1	2633	broad.mit.edu	37	chr1	89525904	89525904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacatctcccagaccctcGgtgtccagcagaactaggat	10	9	8	14	1	2	2	0	0	2	2	5	3	3	3	3	2	3	1	3	2	3	2	rs376417084	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:89525904G>A	ENST00000370473.4	-	3	513	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	98	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGACCCTCGGTGTCCAGCA	0.507													.|||	5	0.000998403	0	0	5008	,	,		17265	0.005		0	False		,,,				2504	0					uc001dmx.2																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(292-294)acC>acT		Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	126	127	127		294	-8.9	1	1		127	0,8600		0,0,4300	no	coding-synonymous	GBP1	NM_002053.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		98/593	89525904	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89525904G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.294C>T	1.37:g.89525904G>A							p.T98T	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	514	-		Lung NSC(277;0.123)	98					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.294C>T	CCDS718.1																																																																																				0.507	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		A	89525904	G	A	89525904	2	1	81	1	0	0	0	0	0	0	0	1	6273	1103	39	2		2	GBP1	1	89525904	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	51328729	89525904	159724717	5	5454											
TXNIP	10628	broad.mit.edu	37	chr1	145440909	145440909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttctagctcctccCtgctatatggatgtcattcc	5	19	5	12	0	3	0	1	0	2	0	6	1	6	1	3	1	2	2	3	1	3	8			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:145440909C>T	ENST00000369317.4	+	7	1330	c.996C>T	c.(994-996)ccC>ccT	p.P332P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	332					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCTCCTCCCTGCTATATGG	0.443																																						uc001enn.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(994-996)ccC>ccT		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							133	134	134					1																	145440909		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440909C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.996C>T	1.37:g.145440909C>T						TXNIP_uc010oys.2_Silent_p.P277P	p.P332P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			6	1337	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		332					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.996C>T	CCDS913.1																																																																																				0.443	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		T	145440909	C	T	145440909	2	4	81	1	0	0	0	0	0	0	0	1	16800	668	24	3		3	TXNIP	1	145440909	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	55915005	145440909	103809712	6	5455											
FLG	2312	broad.mit.edu	37	chr1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgttgttctgcttgcaCttctggatcctgactgccca	5	15	9	12	1	2	1	0	1	2	0	3	2	3	2	2	1	4	4	2	1	1	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:152278855C>T	ENST00000368799.1	-	3	8542	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2836	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8506-8508)aGt>aAt		Homo sapiens filaggrin (FLG), mRNA.							268	401	356					1																	152278855		2167	4299	6466	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278855C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8507G>A	1.37:g.152278855C>T	ENSP00000357789:p.Ser2836Asn						p.S2836N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2836			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8507G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786366	0.16189	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03745	3.82	1.87	-0.193	0.13244	.	.	.	.	.	T	0.01189	0.0039	M	0.76838	2.35	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.45293	-0.9271	9	0.27785	T	0.31	-0.3021	3.458	0.07523	0.2109:0.3779:0.4112:0.0	.	2836	P20930	FILA_HUMAN	N	2836;98	ENSP00000357789:S2836N	ENSP00000357786:S98N	S	-	2	0	FLG	150545479	.	.	0.000000	0.03702	0.031000	0.12232	.	.	-0.040000	0.13580	0.306000	0.20318	AGT		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152278855	C	T	152278855	3	4	81	1	0	0	0	0	1	0	0	0	5922	565	20	3	3682	3	FLG	1	152278855	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	6837946	152278855	96971766	7	5456											
NT5C1B	93034	broad.mit.edu	37	chr2	18765378	18765378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagcggaacgccgggccCggggtcaggatgacgttctc	8	5	16	12	6	2	1	1	1	1	0	3	4	2	3	2	5	2	1	2	5	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:18765378C>T	ENST00000359846.2	-	6	1124	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	NT5C1B_ENST00000600945.1_Silent_p.P349P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P349P|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.P289P|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	349					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACGCCGGGCCCGGGGTCAGGA	0.587																																						uc010exr.3																			0											c.(871-873)ccG>ccA		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							124	122	122					2																	18765378		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18765378C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1047G>A	2.37:g.18765378C>T						NT5C1B-RDH14_uc002rcy.3_Silent_p.P349P|NT5C1B-RDH14_uc010yju.2_Silent_p.P289P|NT5C1B-RDH14_uc002rcz.3_Silent_p.P349P|NT5C1B-RDH14_uc010yjw.2_Silent_p.P332P|NT5C1B-RDH14_uc010yjv.2_Silent_p.P366P|NT5C1B-RDH14_uc010exs.3_Silent_p.P351P|NT5C1B-RDH14_uc002rda.3_Silent_p.P289P|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.P141P	p.P291P	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			4	985	-			349					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.873G>A	CCDS33150.1																																																																																				0.587	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			T	18765378	C	T	18765378	2	4	81	1	0	0	0	0	0	0	0	1	10686	639	23	2		2	NT5C1B	2	18765378	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		18765378	224433995	8	5457											
TBC1D8	11138	broad.mit.edu	37	chr2	101650173	101650173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccccagggactcctccaCcagattcccgtagtaaccag	9	9	7	16	1	0	1	0	0	0	1	4	2	4	2	7	1	1	2	7	1	2	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:101650173C>G	ENST00000376840.4	-	10	1605	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	TBC1D8_ENST00000409318.1_Missense_Mutation_p.V551L			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	536	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACTCCTCCACCAGATTCCCG	0.542																																						uc010fiv.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1606-1608)Gtg>Ctg		Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.							83	93	90					2																	101650173		2194	4295	6489	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101650173C>G	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1606G>C	2.37:g.101650173C>G	ENSP00000366036:p.Val536Leu					TBC1D8_uc010yvw.2_Missense_Mutation_p.V551L|TBC1D8_uc002tau.4_Missense_Mutation_p.V293L	p.V536L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			9	1737	-			536			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.1606G>C	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319433	0.60524	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03889	3.77;3.77	4.97	4.97	0.65823	Rab-GAP/TBC domain (4);	0.000000	0.52532	D	0.000077	T	0.06917	0.0176	N	0.16037	0.36	0.49389	D	0.999785	P;P	0.44659	0.84;0.84	P;P	0.53062	0.524;0.717	T	0.50808	-0.8784	10	0.08599	T	0.76	-30.662	18.2557	0.90019	0.0:1.0:0.0:0.0	.	551;536	B7Z6L4;O95759	.;TBCD8_HUMAN	L	536;551	ENSP00000366036:V536L;ENSP00000386856:V551L	ENSP00000366036:V536L	V	-	1	0	TBC1D8	101016605	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.809000	0.69172	2.295000	0.77249	0.655000	0.94253	GTG		0.542	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		G	101650173	C	G	101650173	3	3	81	1	0	0	0	0	1	0	0	0	15622	507	18	5	1860	5	TBC1D8	2	101650173	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	82884795	101650173	141549200	9	5458											
SAP130	79595	broad.mit.edu	37	chr2	128707447	128707447	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggggaaactaacctttGacccggacgtcactgtacct	9	11	9	12	2	2	1	1	1	1	0	2	3	2	3	3	3	3	1	3	3	3	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:128707447G>C	ENST00000259235.3	-	17	2895	c.2766C>G	c.(2764-2766)gtC>gtG	p.V922V	SAP130_ENST00000357702.5_Silent_p.V957V|SAP130_ENST00000259234.6_Silent_p.V930V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	922	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTAACCTTTGACCCGGACGT	0.433																																						uc010fmd.2																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2869-2871)gtC>gtG		Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.							73	65	67					2																	128707447		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707447G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2766C>G	2.37:g.128707447G>C						SAP130_uc002tpn.2_Silent_p.V682V|SAP130_uc002tpp.2_Silent_p.V922V	p.V957V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	17	3003	-	Colorectal(110;0.1)		922			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.2871C>G	CCDS2153.1																																																																																				0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		C	128707447	G	C	128707447	2	2	81	1	0	0	0	0	0	0	0	1	13831	1277	45	5		5	SAP130	2	128707447	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	27057274	128707447	114491926	10	5459											
KBTBD10	10324	broad.mit.edu	37	chr2	170382111	170382111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtatgaagatgataaaAaagaatgggctgggatgttg	15	10	14	2	0	1	4	1	2	0	2	1	5	1	5	0	3	0	3	0	3	6	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:170382111A>G	ENST00000284669.1	+	6	1803	c.1726A>G	c.(1726-1728)Aaa>Gaa	p.K576E	BBS5_ENST00000554017.1_Missense_Mutation_p.K514E|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.K514E	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	576					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											AGATGATAAAAAAGAATGGGC	0.373																																						uc002ueu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						c.(1726-1728)Aaa>Gaa		Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.							99	100	100					2																	170382111		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170382111A>G	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1726A>G	2.37:g.170382111A>G	ENSP00000284669:p.Lys576Glu					KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	p.K576E	NM_006063	NP_006054	O60662	KBTBA_HUMAN			5	1803	+			576					Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1726A>G	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705752	0.89018	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.65364	-0.15;-0.15;-0.15	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.62723	1.935	0.80722	D	1	D;B	0.52996	0.957;0.085	P;B	0.62298	0.9;0.059	T	0.77056	-0.2729	10	0.59425	D	0.04	.	15.7322	0.77814	1.0:0.0:0.0:0.0	.	514;576	E9PBE3;O60662	.;KBTBA_HUMAN	E	514;514;576	ENSP00000452313:K514E;ENSP00000424363:K514E;ENSP00000284669:K576E	ENSP00000284669:K576E	K	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170090357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.388000	0.90170	2.171000	0.68590	0.533000	0.62120	AAA		0.373	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		G	170382111	A	G	170382111	3	3	81	1	0	0	0	0	1	0	0	0	7990	15	1	4	1748	4	KBTBD10	2	170382111	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	41674664	170382111	72817262	11	5460											
TTN	7273	broad.mit.edu	37	chr2	179419816	179419816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagctctgagcttcacaGatgtacctgctctgtatttg	7	14	9	11	0	3	2	1	1	2	1	3	2	3	2	2	0	5	5	2	0	2	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:179419816G>A	ENST00000591111.1	-	281	83671	c.83447C>T	c.(83446-83448)tCt>tTt	p.S27816F	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20392F|TTN_ENST00000359218.5_Missense_Mutation_p.S20517F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S29457F|TTN_ENST00000342175.6_Missense_Mutation_p.S20584F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26889F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27816	Ig-like 130.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTTCACAGATGTACCTGC	0.373																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80665-80667)tCt>tTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							78	75	76					2																	179419816		1860	4111	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419816G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83447C>T	2.37:g.179419816G>A	ENSP00000465570:p.Ser27816Phe					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20584F|TTN_uc021vta.1_Missense_Mutation_p.S20517F|TTN_uc021vtb.1_Missense_Mutation_p.S20392F	p.S26889F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	80891	-			27816			Fibronectin type-III 95.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80666C>T		.	.	.	.	.	.	.	.	.	.	G	18.55	3.649040	0.67358	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63165	0.2488	M	0.80422	2.495	0.48632	D	0.999682	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48524	0.58;0.58;0.58;0.58	T	0.68307	-0.5443	9	0.87932	D	0	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	20392;20517;20584;27816	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	26889;20392;20584;20517;20389	ENSP00000343764:S26889F;ENSP00000434586:S20392F;ENSP00000340554:S20584F;ENSP00000352154:S20517F	ENSP00000340554:S20584F	S	-	2	0	TTN	179128062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.369000	0.66138	2.826000	0.97356	0.655000	0.94253	TCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179419816	G	A	179419816	3	1	81	1	0	0	0	0	1	0	0	0	16732	942	33	3	19737	3	TTN	2	179419816	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	9037705	179419816	63779557	12	5461											
PLCL1	5334	broad.mit.edu	37	chr2	198966043	198966043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtttctcatagaaatggCggacacagtccaggaaaaga	14	7	11	9	2	1	2	1	0	1	2	3	4	2	4	2	4	0	1	2	4	4	2	rs541983270		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:198966043C>T	ENST00000428675.1	+	4	3352	c.2954C>T	c.(2953-2955)gCg>gTg	p.A985V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A887V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	985					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGAAATGGCGGACACAGTC	0.343													C|||	1	0.000199681	0	0	5008	,	,		19172	0		0	False		,,,				2504	0.001					uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2953-2955)gCg>gTg		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						115	117	116					2																	198966043		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198966043C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2954C>T	2.37:g.198966043C>T	ENSP00000402861:p.Ala985Val					PLCL1_uc002uuv.4_Missense_Mutation_p.A906V	p.A985V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			3	3352	+			985					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2954C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	31	5.089464	0.94149	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.20069	2.1;2.13	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000058	T	0.36690	0.0976	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.61697	0.99;0.981	P;P	0.48738	0.588;0.588	T	0.22277	-1.0221	9	.	.	.	.	17.6534	0.88171	0.0:1.0:0.0:0.0	.	985;911	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	985;887	ENSP00000402861:A985V;ENSP00000414138:A887V	.	A	+	2	0	PLCL1	198674288	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.218000	0.72224	2.687000	0.91594	0.591000	0.81541	GCG		0.343	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198966043	C	T	198966043	3	4	81	1	0	0	0	0	1	0	0	0	12039	768	27	1	2968	1	PLCL1	2	198966043	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	19546227	198966043	44233330	13	5462											
COL4A4	1286	broad.mit.edu	37	chr2	227872085	227872085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccggctgattttctggcGttgggcctggctttctttta	3	16	12	10	2	2	1	0	1	2	0	2	1	2	1	2	4	0	4	2	4	1	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:227872085G>A	ENST00000396625.3	-	48	5236	c.5029C>T	c.(5029-5031)Cgc>Tgc	p.R1677C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1674C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1677	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R1677C(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATTTTCTGGCGTTGGGCCTGG	0.493																																						uc021vxr.1																			1	Substitution - Missense(1)	p.R1677C(2)|p.Q1676K(1)	stomach(1)	breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98	GRCh37	CM074108	COL4A4	M		c.(5029-5031)Cgc>Tgc		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							334	336	335					2																	227872085		1960	4159	6119	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227872085G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.5029C>T	2.37:g.227872085G>A	ENSP00000379866:p.Arg1677Cys					COL4A4_uc021vxs.1_Missense_Mutation_p.R1674C	p.R1677C	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	46	5130	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1677			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.5029C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692898	0.68271	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94758	-3.51;-3.51	5.89	5.89	0.94794	C-type lectin fold (1);	.	.	.	.	D	0.97520	0.9188	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.97936	1.0323	9	0.87932	D	0	.	14.2843	0.66235	0.0:0.0:0.8426:0.1573	.	1677	P53420	CO4A4_HUMAN	C	1677;1674	ENSP00000379866:R1677C;ENSP00000328553:R1674C	ENSP00000328553:R1674C	R	-	1	0	COL4A4	227580329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.357000	0.59436	2.793000	0.96121	0.655000	0.94253	CGC		0.493	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227872085	G	A	227872085	3	1	81	1	0	0	0	0	1	0	0	0	3693	1145	40	1	47	1	COL4A4	2	227872085	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	28906042	227872085	15327288	14	5463											
ATP2B2	491	broad.mit.edu	37	chr3	10387792	10387792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacggccaccacctgccGctgctcagtgtgtgtgctgt	4	10	12	15	3	2	0	2	0	0	0	2	0	2	0	4	1	3	3	4	1	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:10387792G>A	ENST00000352432.4	-	16	2503	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R798W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R812W|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R767W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R767W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	812					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACCTGCCGCTGCTCAGTG	0.682																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2434-2436)Cgg>Tgg		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							62	56	58					3																	10387792		2202	4299	6501	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10387792G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2434C>T	3.37:g.10387792G>A	ENSP00000324172:p.Arg812Trp					ATP2B2_uc003bvv.3_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.3_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.3_Missense_Mutation_p.R517W	p.R812W	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			16	2873	-			812					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2434C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887241	0.72410	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92;-3.92	4.47	2.46	0.29980	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.934;0.993	D	0.97434	1.0017	10	0.87932	D	0	-32.5144	11.966	0.53035	0.0:0.0:0.507:0.493	.	747;779;812	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	W	812;767;767;812;798;747;668;812	ENSP00000324172:R812W;ENSP00000373311:R767W;ENSP00000380267:R767W;ENSP00000353414:R812W;ENSP00000344677:R798W;ENSP00000414854:R668W	ENSP00000342954:R812W	R	-	1	2	ATP2B2	10362792	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.625000	0.46452	0.964000	0.38108	0.484000	0.47621	CGG		0.682	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10387792	G	A	10387792	3	1	81	1	0	0	0	0	1	0	0	0	1140	1086	38	1	1325	1	ATP2B2	3	10387792	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		10387792	187634638	15	5464											
SLC6A20	54716	broad.mit.edu	37	chr3	45814090	45814090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcaatagggcagtgaCgccgtgaaatacaccacctg	13	5	11	12	3	0	2	0	2	0	0	0	2	0	2	3	1	2	3	3	1	4	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:45814090C>T	ENST00000358525.4	-	5	715	c.600G>A	c.(598-600)gcG>gcA	p.A200A	SLC6A20_ENST00000456124.2_Silent_p.A200A|SLC6A20_ENST00000353278.4_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	200					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGGCAGTGACGCCGTGAAAT	0.597																																						uc011bai.2																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(598-600)gcG>gcA		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.							80	84	83					3																	45814090		2096	4218	6314	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45814090C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.600G>A	3.37:g.45814090C>T						SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron	p.A200A	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	4	724	-			200					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.600G>A	CCDS43077.1																																																																																				0.597	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		T	45814090	C	T	45814090	2	4	81	1	0	0	0	0	0	0	0	1	14684	523	19	1		1	SLC6A20	3	45814090	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	35426298	45814090	152208340	16	5465											
GHSR	2693	broad.mit.edu	37	chr3	172165997	172165997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagctcgcggaagcgCgacaccaccagcatggtgag	9	4	15	13	5	0	1	0	1	0	0	1	3	0	2	2	2	4	3	2	2	1	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:172165997C>T	ENST00000241256.2	-	1	249	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_ENST00000427970.1_Silent_p.S69S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	69					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.S69S(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			2	Substitution - coding silent(2)	p.S69S(3)|p.S69T(1)	lung(2)	biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(205-207)tcG>tcA		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							69	59	62					3																	172165997		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165997C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.207G>A	3.37:g.172165997C>T						GHSR_uc011bpv.2_Silent_p.S69S	p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	250	-	Ovarian(172;0.00143)|Breast(254;0.197)		69					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.207G>A	CCDS3218.1																																																																																				0.657	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165997	C	T	172165997	2	4	81	1	0	0	0	0	0	0	0	1	6375	755	27	1		1	GHSR	3	172165997	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	126351907	172165997	25856433	17	5466											
SULT1B1	27284	broad.mit.edu	37	chr4	70599914	70599914	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaccaggaaaaggctgtaaAttattcattaagtcaaaatg	17	11	8	5	0	2	0	2	0	0	0	2	1	2	1	1	2	1	3	1	2	9	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:70599914A>G	ENST00000310613.3	-	5	741	c.444T>C	c.(442-444)aaT>aaC	p.N148N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	148					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGCTGTAAATTATTCATTA	0.353																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(442-444)aaT>aaC		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							27	28	27					4																	70599914		2202	4300	6502	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70599914A>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.444T>C	4.37:g.70599914A>G							p.N148N	NM_014465	NP_055280	O43704	ST1B1_HUMAN			4	742	-			148					O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.444T>C	CCDS3530.1																																																																																				0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		G	70599914	A	G	70599914	2	3	81	1	0	0	0	0	0	0	0	1	15373	98	4	4		4	SULT1B1	4	70599914	Silent	SNP	A	TCGA-06-2564-01A-01D-1494-08		70599914	120554362	18	5467											
SEPT11	55752	broad.mit.edu	37	chr4	77949846	77949846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcagaagaaagaagaaGaaatgagacaaatgtttgtt	20	8	10	3	0	0	6	0	1	0	6	0	7	0	6	0	0	2	3	0	0	7	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:77949846G>A	ENST00000264893.6	+	8	1219	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SEPT11_ENST00000502584.1_Missense_Mutation_p.E340K|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000541121.1_Missense_Mutation_p.E350K|SEPT11_ENST00000510515.1_Missense_Mutation_p.E350K|SEPT11_ENST00000505788.1_Missense_Mutation_p.E340K	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	340					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GAAAGAAGAAGAAATGAGACA	0.403																																						uc011cca.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(1048-1050)Gaa>Aaa		Homo sapiens septin 11 (SEPT11), mRNA.							91	92	92					4																	77949846		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77949846G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1018G>A	4.37:g.77949846G>A	ENSP00000264893:p.Glu340Lys					SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc003hkj.3_Missense_Mutation_p.E340K	p.E350K			Q9NVA2	SEP11_HUMAN			9	1400	+			340					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.1048G>A	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	35	5.505676	0.96371	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	6.04	6.04	0.98038	.	0.071333	0.64402	D	0.000018	D	0.84147	0.5408	M	0.67397	2.05	0.58432	D	0.999999	B;B	0.31077	0.251;0.307	B;B	0.32022	0.139;0.126	T	0.82370	-0.0491	10	0.66056	D	0.02	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	350;340	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	K	340;340;332;340;350;350	ENSP00000264893:E340K;ENSP00000426344:E340K;ENSP00000420839:E332K;ENSP00000424925:E340K;ENSP00000422896:E350K;ENSP00000443701:E350K	ENSP00000264893:E340K	E	+	1	0	SEPT11	78168870	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.338000	0.96553	2.873000	0.98535	0.561000	0.74099	GAA		0.403	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		A	77949846	G	A	77949846	3	1	81	1	0	0	0	0	1	0	0	0	14061	943	33	3	1048	3	SEPT11	4	77949846	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7349932	77949846	113204430	19	5468											
FAT1	2195	broad.mit.edu	37	chr4	187541182	187541183	+	Frame_Shift_Ins	INS	-	-	A																															ctgcaatctctgcactgtagINSaaaggtttttcaaacacagg																										TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:187541182_187541183insA	ENST00000441802.2	-	10	6766_6767	c.6557_6558insT	c.(6556-6558)ttcfs	p.F2186fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2186	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACTGTAGAAAGGTTTTTC	0.51										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6556-6558)ttcfs		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541182_187541183insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6558dupT	4.37:g.187541185_187541185dupA	ENSP00000406229:p.Phe2186fs	HNSCC(5;0.00058)					p.F2186fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			9	6745_6746	-			2186			Cadherin 20.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.6557_6558insT	CCDS47177.1																																																																																				0.51	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187541183	-	A	187541182	7	5	81	1	0	1	1	0	0	0	0	0	5689	933	33	0	7280	0	FAT1	4	187541182	Frame_Shift_Ins	INS	-	TCGA-06-2564-01A-01D-1494-08	109591336	187541182	3613094	20	5469											
FSTL4	23105	broad.mit.edu	37	chr5	132652162	132652162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcccacctgagccagttCggagctgctgaggtggccat	7	8	14	12	1	0	2	0	2	0	0	1	4	0	3	4	3	4	3	4	3	0	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:132652162C>T	ENST00000265342.7	-	5	841	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	198	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557																																						uc003kyn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(592-594)Gaa>Aaa		Homo sapiens follistatin-like 4 (FSTL4), mRNA.							66	62	63					5																	132652162		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132652162C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.592G>A	5.37:g.132652162C>T	ENSP00000265342:p.Glu198Lys						p.E198K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	810	-		all_cancers(142;0.244)	198			EF-hand.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.592G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495350	0.64186	.	.	ENSG00000053108	ENST00000265342	T	0.71222	-0.55	5.41	5.41	0.78517	EF-hand-like domain (1);	0.099482	0.64402	D	0.000002	D	0.88526	0.6460	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90948	0.4803	10	0.62326	D	0.03	-23.322	16.7213	0.85410	0.0:1.0:0.0:0.0	.	198	Q6MZW2	FSTL4_HUMAN	K	198	ENSP00000265342:E198K	ENSP00000265342:E198K	E	-	1	0	FSTL4	132680061	1.000000	0.71417	0.923000	0.36655	0.034000	0.12701	6.478000	0.73596	2.704000	0.92352	0.561000	0.74099	GAA		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		T	132652162	C	T	132652162	3	4	81	1	0	0	0	0	1	0	0	0	6079	893	31	2	1984	2	FSTL4	5	132652162	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		132652162	48263098	21	5470											
NPM1	4869	broad.mit.edu	37	chr5	170819769	170819769	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaggatgtgaaactcttAagtatatctggaaagcggtc	13	10	13	5	1	2	1	0	1	2	0	3	5	2	4	0	4	2	1	0	4	5	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:170819769A>C	ENST00000296930.5	+	5	709	c.408A>C	c.(406-408)ttA>ttC	p.L136F	NPM1_ENST00000517671.1_Missense_Mutation_p.L136F|NPM1_ENST00000351986.6_Missense_Mutation_p.L136F|NPM1_ENST00000393820.2_Missense_Mutation_p.L136F	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	136	Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAACTCTTAAGTATATCTG	0.388			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	uc003mbi.3				Dom	yes		5	5q35	4869	"T, F "	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"			L	"ALK, RARA, MLF1"		"NHL, APL, AML"	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(406-408)ttA>ttC		Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.							94	109	104					5																	170819769		2201	4297	6498	SO:0001583	missense	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170819769A>C	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.408A>C	5.37:g.170819769A>C	ENSP00000296930:p.Leu136Phe					NPM1_uc003mbh.3_Missense_Mutation_p.L136F|NPM1_uc003mbj.3_Missense_Mutation_p.L136F	p.L136F	NM_002520	NP_002511	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	653	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	136			Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	c.408A>C	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	A	9.684	1.150034	0.21371	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000521672;ENST00000351986;ENST00000393820	T;T;T;T	0.47869	0.86;0.86;0.83;0.83	3.73	-5.22	0.02806	.	2.527990	0.02522	U	0.092715	T	0.36663	0.0975	L	0.43923	1.385	0.09310	N	1	B;B;B	0.27700	0.006;0.186;0.054	B;B;B	0.32724	0.044;0.151;0.111	T	0.13926	-1.0491	10	0.24483	T	0.36	.	4.1362	0.10172	0.3659:0.0:0.3131:0.321	.	136;136;136	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	F	136;136;72;136;136	ENSP00000428755:L136F;ENSP00000296930:L136F;ENSP00000341168:L136F;ENSP00000377408:L136F	ENSP00000296930:L136F	L	+	3	2	NPM1	170752374	0.008000	0.16893	0.221000	0.23827	0.943000	0.58893	-0.436000	0.06922	-1.210000	0.02627	0.397000	0.26171	TTA		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		C	170819769	A	C	170819769	3	2	81	1	0	0	0	0	1	0	0	0	10587	359	13	5	426	5	NPM1	5	170819769	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	38167607	170819769	10095491	22	5471											
NUP153	9972	broad.mit.edu	37	chr6	17629357	17629357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttaataacacctgtacCaaagctaaaacctgcagagg	16	7	9	9	0	0	1	0	0	0	1	0	2	0	2	3	2	5	4	3	2	6	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:17629357C>T	ENST00000262077.2	-	18	3072	c.3073G>A	c.(3073-3075)Ggt>Agt	p.G1025S	NUP153_ENST00000537253.1_Missense_Mutation_p.G1056S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1025					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACACCTGTACCAAAGCTAAAA	0.443																																						uc003ncd.1																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3073-3075)Ggt>Agt		Homo sapiens nucleoporin 153kDa (NUP153), mRNA.							78	78	78					6																	17629357		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629357C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3073G>A	6.37:g.17629357C>T	ENSP00000262077:p.Gly1025Ser					NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	p.G1025S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		17	3273	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1025					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3073G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285916	0.80803	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.13089	2.66;2.62	5.75	5.75	0.90469	.	0.000000	0.50627	D	0.000101	T	0.30479	0.0766	M	0.79926	2.475	0.44555	D	0.997515	D;B;B	0.57571	0.98;0.44;0.35	P;B;B	0.59595	0.86;0.169;0.114	T	0.01925	-1.1246	10	0.48119	T	0.1	-10.3324	19.9525	0.97208	0.0:1.0:0.0:0.0	.	1056;1005;1025	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	1025;1005;1056	ENSP00000262077:G1025S;ENSP00000444029:G1056S	ENSP00000262077:G1025S	G	-	1	0	NUP153	17737336	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.834000	0.48167	2.719000	0.93026	0.655000	0.94253	GGT		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			T	17629357	C	T	17629357	3	4	81	1	0	0	0	0	1	0	0	0	10755	594	21	3	1374	3	NUP153	6	17629357	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		17629357	153485710	23	5472											
SLC26A8	116369	broad.mit.edu	37	chr6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctcccctggctttccGccacatcaggcagtcctggt	5	11	8	17	1	2	0	1	0	1	0	6	0	5	0	6	3	0	2	6	3	0	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:35923059G>A	ENST00000490799.1	-	17	2455	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A596V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A701V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2101-2103)gCg>gTg		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							171	164	166					6																	35923059		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923059G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2102C>T	6.37:g.35923059G>A	ENSP00000417638:p.Ala701Val					SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A283V|SLC26A8_uc003oll.3_Missense_Mutation_p.A596V|SLC26A8_uc003oln.3_Missense_Mutation_p.A701V	p.A701V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN			16	2213	-			701			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2102C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736714	0.30774	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95205	-3.31;-3.64;-3.31	4.25	-2.79	0.05841	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.220400	0.00604	N	0.000383	D	0.82268	0.5000	L	0.42245	1.32	0.09310	N	1	P;D;D	0.57899	0.919;0.981;0.958	B;B;B	0.41412	0.278;0.356;0.281	T	0.76929	-0.2777	10	0.49607	T	0.09	.	0.6772	0.00869	0.1896:0.2875:0.2307:0.2921	.	701;596;283	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	701;596;701	ENSP00000417638:A701V;ENSP00000378100:A596V;ENSP00000347778:A701V	ENSP00000347778:A701V	A	-	2	0	SLC26A8	36031037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.722000	0.04958	-0.350000	0.08262	-1.130000	0.01982	GCG		0.502	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			A	35923059	G	A	35923059	3	1	81	1	0	0	0	0	1	0	0	0	14523	1087	38	1	826	1	SLC26A8	6	35923059	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	18293702	35923059	135192008	24	5473											
FRK	2444	broad.mit.edu	37	chr6	116263659	116263659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacgcagtgtctcaaatGtaggtcgttccttaggctct	8	13	9	11	2	2	0	1	0	2	0	6	0	4	0	2	2	1	4	2	2	4	3	rs142072444		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:116263659G>A	ENST00000606080.1	-	8	1882	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	FRK_ENST00000538210.1_Missense_Mutation_p.T337I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TGTCTCAAATGTAGGTCGTTC	0.398																																						uc003pwi.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1435-1437)aCa>aTa		Homo sapiens fyn-related kinase (FRK), mRNA.		G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	146	138	141		1436	2.5	0.2	6	dbSNP_134	141	0,8600		0,0,4300	no	missense	FRK	NM_002031.2	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	479/506	116263659	1,13005	2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263659G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1436C>T	6.37:g.116263659G>A	ENSP00000476145:p.Thr479Ile						p.T479I	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	7	1883	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	479			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1436C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249193	0.22880	2.27E-4	0.0	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.39787	1.06;1.06	5.59	2.55	0.30701	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.57446	0.2054	H	0.94183	3.505	0.44042	D	0.99677	D	0.56521	0.976	P	0.57244	0.816	T	0.68652	-0.5352	10	0.87932	D	0	.	10.8476	0.46751	0.0:0.1272:0.6089:0.2638	.	479	P42685	FRK_HUMAN	I	479;337	ENSP00000357615:T479I;ENSP00000443075:T337I	ENSP00000357615:T479I	T	-	2	0	FRK	116370352	1.000000	0.71417	0.232000	0.24009	0.011000	0.07611	3.434000	0.52841	0.658000	0.30925	-0.282000	0.10007	ACA		0.398	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		A	116263659	G	A	116263659	3	1	81	1	0	0	0	0	1	0	0	0	6048	1377	48	3	85	3	FRK	6	116263659	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	80340600	116263659	54851408	25	5474											
DFNA5	1687	broad.mit.edu	37	chr7	24742379	24742379	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgggaggttgcttacCaagtggcacagtgtgggaat	9	9	14	9	0	0	0	0	0	0	0	0	2	0	2	3	4	2	3	3	4	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:24742379C>T	ENST00000342947.3	-	9	1682	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L	DFNA5_ENST00000409775.3_Splice_Site_p.L419L|DFNA5_ENST00000419307.1_Splice_Site_p.L255L|DFNA5_ENST00000409970.1_Splice_Site_p.L255L|DFNA5_ENST00000545231.1_Splice_Site_p.L255L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	419					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTTGCTTACCAAGTGGCACA	0.512																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.e9+1		Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.							116	113	114					7																	24742379		2203	4300	6503	SO:0001630	splice_region_variant	1687				sensory perception of sound			g.chr7:24742379C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1257+1G>A	7.37:g.24742379C>T						DFNA5_uc003sxa.1_Splice_Site_p.L419_splice|DFNA5_uc010kut.1_Splice_Site_p.L255_splice	p.L419_splice	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN			9	1345	-			419					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.1257_splice	CCDS5389.1																																																																																				0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	Silent	T	24742379	C	T	24742379	5	4	81	1	0	0	0	0	0	0	1	0	4454	608	21	3	241	3	DFNA5	7	24742379	Splice_Site	SNP	C	TCGA-06-2564-01A-01D-1494-08		24742379	134396284	26	5475											
TNS3	64759	broad.mit.edu	37	chr7	47440469	47440469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcaggcggaaaatgaCgtcacgggtggccgagcggt	11	5	16	9	5	1	1	1	1	0	0	1	3	1	2	1	5	3	1	1	5	3	0	rs183514866		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:47440469C>T	ENST00000398879.1	-	14	1132	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	TNS3_ENST00000311160.9_Missense_Mutation_p.V256I|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	256	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAAAATGACGTCACGGGTG	0.567													C|||	1	0.000199681	0	0.0014	5008	,	,		18555	0		0	False		,,,				2504	0					uc003tnw.3																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(766-768)Gtc>Atc		Homo sapiens tensin 3 (TNS3), mRNA.		C	ILE/VAL	1,4027		0,1,2013	89	109	103		766	4.1	0.2	7		103	0,8340		0,0,4170	yes	missense	TNS3	NM_022748.11	29	0,1,6183	TT,TC,CC		0.0,0.0248,0.0081	probably-damaging	256/1446	47440469	1,12367	2014	4170	6184	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47440469C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.766G>A	7.37:g.47440469C>T	ENSP00000381854:p.Val256Ile					TNS3_uc010kyo.1_3'UTR	p.V256I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			13	1124	-			256			C2 tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.766G>A	CCDS5506.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.13	3.311796	0.60414	2.48E-4	0.0	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.99	4.11	0.48088	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.214637	0.39083	N	0.001463	T	0.80265	0.4591	L	0.52266	1.64	0.80722	D	1	B	0.28470	0.213	B	0.27715	0.082	T	0.76239	-0.3032	10	0.39692	T	0.17	-31.2918	11.194	0.48703	0.0:0.909:0.0:0.091	.	256	Q68CZ2	TENS3_HUMAN	I	256;366;256;359;345	ENSP00000312143:V256I;ENSP00000381854:V256I;ENSP00000414358:V359I;ENSP00000396914:V345I	ENSP00000312143:V256I	V	-	1	0	TNS3	47406994	0.997000	0.39634	0.225000	0.23894	0.886000	0.51366	3.597000	0.54031	1.120000	0.41904	0.456000	0.33151	GTC		0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		T	47440469	C	T	47440469	3	4	81	1	0	0	0	0	1	0	0	0	16341	536	19	1	3643	1	TNS3	7	47440469	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	22698090	47440469	111698194	27	5476											
TFPI2	7980	broad.mit.edu	37	chr7	93516148	93516148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttaaaattgcttcttcCgaattttccggattctactg	9	18	6	8	2	2	0	0	0	2	0	4	2	4	1	2	1	2	2	2	1	4	9	rs12669450	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:93516148C>T	ENST00000222543.5	-	5	1004	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	TFPI2_ENST00000545378.1_Missense_Mutation_p.R120Q|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	231			R -> Q (in dbSNP:rs12669450).		blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328													C|||	13	0.00259585	0	0	5008	,	,		17378	0.0129		0	False		,,,				2504	0					uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(691-693)cGg>cAg		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							114	126	122					7																	93516148		2201	4299	6500	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516148C>T	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.692G>A	7.37:g.93516148C>T	ENSP00000222543:p.Arg231Gln					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q	p.R231Q	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		4	767	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		231		R -> Q (in dbSNP:rs12669450).			Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.692G>A	CCDS5632.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	13.97	2.396427	0.42512	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.55413	0.65;0.52	5.06	-2.9	0.05648	.	1.498900	0.03794	N	0.263314	T	0.27134	0.0665	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.18335	-1.0340	10	0.25106	T	0.35	.	10.8999	0.47045	0.0:0.3349:0.0:0.6651	rs12669450;rs12669450	163;220;231	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	Q	231;120	ENSP00000222543:R231Q;ENSP00000438861:R120Q	ENSP00000222543:R231Q	R	-	2	0	TFPI2	93354084	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.792000	0.04594	-0.445000	0.07159	-0.793000	0.03317	CGG		0.328	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		T	93516148	C	T	93516148	3	4	81	1	0	0	0	0	1	0	0	0	15806	652	23	2	19	2	TFPI2	7	93516148	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	46075679	93516148	65622515	28	5477											
NRF1	4899	broad.mit.edu	37	chr7	129357140	129357140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggccacccaggcggtgGcatcgttggcagaggccgca	8	4	16	13	3	0	2	0	0	0	2	1	2	0	2	3	6	0	4	3	6	0	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129357140G>A	ENST00000393232.1	+	9	1264	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	NRF1_ENST00000393231.3_Missense_Mutation_p.A383T|NRF1_ENST00000393230.2_Missense_Mutation_p.A383T|NRF1_ENST00000311967.2_Missense_Mutation_p.A383T|NRF1_ENST00000223190.4_Missense_Mutation_p.A383T|NRF1_ENST00000353868.4_Missense_Mutation_p.A317T|NRF1_ENST00000539636.1_Missense_Mutation_p.A222T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	383	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CCAGGCGGTGGCATCGTTGGC	0.567																																						uc003vpa.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1147-1149)Gca>Aca		Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.							76	69	72					7																	129357140		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357140G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1147G>A	7.37:g.129357140G>A	ENSP00000376924:p.Ala383Thr					NRF1_uc003voz.3_Missense_Mutation_p.A383T|NRF1_uc011kpa.2_Missense_Mutation_p.A222T|NRF1_uc003vpb.3_Missense_Mutation_p.A383T	p.A383T	NM_005011	NP_005002	Q16656	NRF1_HUMAN			8	1267	+			383			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1147G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062263	0.55432	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	L	0.38175	1.15	0.80722	D	1	D;B	0.63880	0.993;0.267	D;B	0.70935	0.971;0.039	T	0.61662	-0.7017	9	0.26408	T	0.33	-8.058	18.4942	0.90858	0.0:0.0:1.0:0.0	.	383;383	Q96AN2;Q16656	.;NRF1_HUMAN	T	383;317;222;383;383;383;383	.	ENSP00000223190:A383T	A	+	1	0	NRF1	129144376	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	9.455000	0.97625	2.617000	0.88574	0.650000	0.86243	GCA		0.567	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		A	129357140	G	A	129357140	3	1	81	1	0	0	0	0	1	0	0	0	10646	1203	42	3	1177	3	NRF1	7	129357140	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	35840992	129357140	29781523	29	5478											
ZC3HC1	51530	broad.mit.edu	37	chr7	129662254	129662254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctggggcgctggcatCtggttcagttccaccattct	4	13	11	13	1	4	0	1	0	3	0	5	0	5	0	2	4	1	5	2	4	0	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129662254C>T	ENST00000358303.4	-	9	1429	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.D406N|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.D428N|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.D378N	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	449					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCGCTGGCATCTGGTTCAGTT	0.552																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.3																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(1345-1347)Gat>Aat		Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.							122	105	111					7																	129662254		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129662254C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1345G>A	7.37:g.129662254C>T	ENSP00000351052:p.Asp449Asn					ZC3HC1_uc010lma.3_Missense_Mutation_p.D265N	p.D449N	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			8	1372	-	Melanoma(18;0.0435)		449					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.1345G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011879	0.75046	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.42513	1.51;0.98;1.52;0.97	5.5	5.5	0.81552	.	0.461989	0.23834	N	0.044117	T	0.45577	0.1349	L	0.54323	1.7	0.09310	N	0.999999	D;B;B	0.53312	0.959;0.215;0.112	P;B;B	0.46076	0.503;0.043;0.031	T	0.43376	-0.9395	10	0.34782	T	0.22	-0.5087	16.9067	0.86130	0.0:1.0:0.0:0.0	.	378;449;406	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	N	449;378;428;406	ENSP00000351052:D449N;ENSP00000353933:D378N;ENSP00000309301:D428N;ENSP00000418533:D406N	ENSP00000309301:D428N	D	-	1	0	ZC3HC1	129449490	0.420000	0.25457	0.010000	0.14722	0.074000	0.17049	1.727000	0.38095	2.610000	0.88304	0.650000	0.86243	GAT		0.552	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		T	129662254	C	T	129662254	3	4	81	1	0	0	0	0	1	0	0	0	17574	913	32	3	171	3	ZC3HC1	7	129662254	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	305114	129662254	29476409	30	5479											
ABCF2	10061	broad.mit.edu	37	chr7	150921937	150921937	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcactgagcagctcttGaccatgaaaggtaagtgaga	12	9	13	7	0	2	4	1	4	1	1	2	5	2	4	1	2	2	3	1	2	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:150921937G>A	ENST00000287844.2	-	3	401	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.Q98*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	98	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCTTGACCATGAAAG	0.507																																						uc003wjo.1																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(292-294)Caa>Taa		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							121	105	110					7																	150921937		2203	4300	6503	SO:0001587	stop_gained	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921937G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.292C>T	7.37:g.150921937G>A	ENSP00000287844:p.Gln98*					ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q98*	p.Q98*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	403	-			98			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Nonsense_Mutation	SNP	ENST00000287844.2	37	c.292C>T	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	37	6.530000	0.97641	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-6.6656	17.2385	0.87006	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000222388:Q98X	Q	-	1	0	ABCF2	150552870	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.527000	0.98044	2.746000	0.94184	0.655000	0.94253	CAA		0.507	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		A	150921937	G	A	150921937	4	1	81	1	0	0	0	0	0	1	0	0	66	1299	45	3	1672	3	ABCF2	7	150921937	Nonsense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	21259683	150921937	8216726	31	5480											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtggcctctgagtttgCgggggccatgttttccctga	3	16	13	9	1	1	2	0	2	1	0	2	2	2	2	3	3	1	2	3	3	0	5	rs140686896	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:37732412C>T	ENST00000330843.4	-	3	1255	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A415T|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	415					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1243-1245)Gca>Aca		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.		C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	62	60	61		1243,1243	4.9	0	8	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	415/1284,415/650	37732412	2,13004	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732412C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1243G>A	8.37:g.37732412C>T	ENSP00000331342:p.Ala415Thr					RAB11FIP1_uc003xkn.2_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	p.A415T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	1299	-		Lung NSC(58;0.118)|all_lung(54;0.195)	415					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1243G>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749665	0.30955	4.54E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31769	2.23;2.68;1.5;1.48	4.91	4.91	0.64330	.	0.602245	0.15777	N	0.245104	T	0.25644	0.0624	M	0.70595	2.14	0.09310	N	1	B;P;P;P	0.48640	0.089;0.759;0.907;0.913	B;B;B;B	0.31495	0.004;0.061;0.131;0.121	T	0.31696	-0.9934	10	0.23302	T	0.38	-5.0172	10.3231	0.43777	0.1316:0.6563:0.2121:0.0	.	267;267;415;415	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	T	415;415;267;267	ENSP00000287263:A415T;ENSP00000331342:A415T;ENSP00000430009:A267T;ENSP00000430680:A267T	ENSP00000287263:A415T	A	-	1	0	RAB11FIP1	37851570	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.327000	0.19663	2.264000	0.75181	0.563000	0.77884	GCA		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		T	37732412	C	T	37732412	3	4	81	1	0	0	0	0	1	0	0	0	12893	768	27	1	2624	1	RAB11FIP1	8	37732412	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		37732412	108631610	32	5481											
IMPAD1	54928	broad.mit.edu	37	chr8	57878872	57878872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcattgtaggaagagCgggctttcacatttgaacca	10	13	9	9	1	3	2	2	1	2	1	4	3	3	3	1	2	2	2	1	2	3	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:57878872C>T	ENST00000262644.4	-	4	944	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	229					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTAGGAAGAGCGGGCTTTCAC	0.423																																						uc003xte.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(685-687)cGc>cAc		Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.							145	114	124					8																	57878872		2203	4300	6503	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57878872C>T		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.686G>A	8.37:g.57878872C>T	ENSP00000262644:p.Arg229His						p.R229H	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			3	972	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	229					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.686G>A	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320001	0.81469	.	.	ENSG00000104331	ENST00000262644	T	0.51817	0.69	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.68224	-0.5465	10	0.40728	T	0.16	-31.6143	13.7144	0.62687	0.0:0.926:0.0:0.074	.	229	Q9NX62	IMPA3_HUMAN	H	229	ENSP00000262644:R229H	ENSP00000262644:R229H	R	-	2	0	IMPAD1	58041426	1.000000	0.71417	0.905000	0.35620	0.851000	0.48451	5.692000	0.68256	1.398000	0.46701	-0.140000	0.14226	CGC		0.423	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		T	57878872	C	T	57878872	3	4	81	1	0	0	0	0	1	0	0	0	7725	768	27	1	401	1	IMPAD1	8	57878872	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	20146460	57878872	88485150	33	5482											
MTDH	92140	broad.mit.edu	37	chr8	98735243	98735243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtcaaataccaagcaaaAtagtgtgcctccttcacaga	16	8	6	11	0	2	1	2	0	0	1	3	1	3	1	3	0	3	1	3	0	7	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:98735243A>G	ENST00000336273.3	+	11	1986	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MTDH_ENST00000519934.1_Missense_Mutation_p.N497S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	553					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCAAGCAAAATAGTGTGCCT	0.363																																						uc003yhz.3																			0		p.N553N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1657-1659)aAt>aGt		Homo sapiens metadherin (MTDH), mRNA.							157	154	155					8																	98735243		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98735243A>G	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1658A>G	8.37:g.98735243A>G	ENSP00000338235:p.Asn553Ser					MTDH_uc010mbf.3_Non-coding_Transcript	p.N553S	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1986	+	Breast(36;2.56e-06)		553					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1658A>G	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262556	0.80358	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.64991	-0.08;-0.13	6.06	6.06	0.98353	.	0.199241	0.51477	D	0.000098	T	0.74831	0.3768	L	0.55481	1.735	0.52501	D	0.999955	D	0.71674	0.998	D	0.80764	0.994	T	0.74134	-0.3763	10	0.42905	T	0.14	-15.4726	15.1804	0.72952	1.0:0.0:0.0:0.0	.	553	Q86UE4	LYRIC_HUMAN	S	553;497;176	ENSP00000338235:N553S;ENSP00000428168:N497S	ENSP00000338235:N553S	N	+	2	0	MTDH	98804419	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.397000	0.73239	2.324000	0.78689	0.533000	0.62120	AAT		0.363	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			G	98735243	A	G	98735243	3	3	81	1	0	0	0	0	1	0	0	0	9917	101	4	4	1700	4	MTDH	8	98735243	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	40856371	98735243	47628779	34	5483											
VPS13B	157680	broad.mit.edu	37	chr8	100732741	100732741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgaacaaagttcagatGacctacggacaggtctattt	15	10	9	7	1	2	3	1	2	1	1	2	4	2	4	1	2	2	1	1	2	5	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:100732741G>A	ENST00000358544.2	+	38	7012	c.6901G>A	c.(6901-6903)Gac>Aac	p.D2301N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D2276N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2301					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTCAGATGACCTACGGAC	0.403																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(6901-6903)Gac>Aac		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							73	70	71					8																	100732741		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100732741G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6901G>A	8.37:g.100732741G>A	ENSP00000351346:p.Asp2301Asn					VPS13B_uc003yiw.3_Missense_Mutation_p.D2276N	p.D2301N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	7012	+	Breast(36;3.73e-07)		2301					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6901G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339832	0.95783	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.93133	-3.14;-3.17	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.95951	0.8954	10	0.87932	D	0	.	20.3723	0.98894	0.0:0.0:1.0:0.0	.	2276;2301	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	2276;2301	ENSP00000349685:D2276N;ENSP00000351346:D2301N	ENSP00000349685:D2276N	D	+	1	0	VPS13B	100801917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.993000	0.93524	2.820000	0.97059	0.655000	0.94253	GAC		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100732741	G	A	100732741	3	1	81	1	0	0	0	0	1	0	0	0	17187	1290	45	3	7241	3	VPS13B	8	100732741	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	1997498	100732741	45631281	35	5484											
FBP2	8789	broad.mit.edu	37	chr9	97333780	97333780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccacgccttgccctgtGgagagagccaccagggttgc	7	7	14	13	1	0	1	0	0	0	1	1	3	1	2	5	3	3	1	5	3	0	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:97333780G>A	ENST00000375337.3	-	4	597	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	177					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTTGCCCTGTGGAGAGAGCCA	0.567																																						uc004auv.3																			0		p.L176F(1)		endometrium(1)|large_intestine(3)|lung(5)	9						c.(529-531)tcC>tcT		Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.							106	88	94					9																	97333780		2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333780G>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.531C>T	9.37:g.97333780G>A							p.S177S	NM_003837	NP_003828	O00757	F16P2_HUMAN			3	598	-		Acute lymphoblastic leukemia(62;0.136)	177					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.531C>T	CCDS6711.1																																																																																				0.567	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		A	97333780	G	A	97333780	2	1	81	1	0	0	0	0	0	0	0	1	5706	1335	47	3		3	FBP2	9	97333780	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08		97333780	43879651	36	5485											
C9orf102	375748	broad.mit.edu	37	chr9	98669532	98669532	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttatgaaacactacgctTatgcctggatgaacttaaca	15	11	6	9	1	0	2	0	2	0	0	0	3	0	3	1	1	6	1	1	1	7	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:98669532T>G	ENST00000288985.7	+	4	1105	c.800T>G	c.(799-801)tTa>tGa	p.L267*	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Nonsense_Mutation_p.L78*|RNA5SP289_ENST00000362332.1_RNA	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	267	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ACACTACGCTTATGCCTGGAT	0.303																																						uc010mry.1																			0													Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.							76	73	74					9																	98669532		2203	4300	6503	SO:0001587	stop_gained	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98669532T>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.800T>G	9.37:g.98669532T>G	ENSP00000288985:p.Leu267*					ERCC6L2_uc010mrx.1_Non-coding_Transcript|ERCC6L2_uc004avt.4_Nonsense_Mutation_p.L267*|ERCC6L2_uc011lum.2_Intron|ERCC6L2_uc010mrz.3_Nonsense_Mutation_p.L78*				Q5T890	RAD26_HUMAN					+								A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000288985.7	37		CCDS35072.1	.	.	.	.	.	.	.	.	.	.	T	37	6.112488	0.97296	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	.	.	.	5.35	5.35	0.76521	.	0.000000	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.7993	15.3443	0.74324	0.0:0.0:0.0:1.0	.	.	.	.	X	267;78	.	ENSP00000288985:L267X	L	+	2	0	C9orf102	97709353	0.996000	0.38824	0.999000	0.59377	0.990000	0.78478	7.031000	0.76491	2.025000	0.59659	0.482000	0.46254	TTA		0.303	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		G	98669532	T	G	98669532	4	3	81	1	0	0	0	0	0	1	0	0	2445	1764	61	5	814	5	C9orf102	9	98669532	Nonsense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	1335752	98669532	42543899	37	5486											
AKAP2	11217	broad.mit.edu	37	chr9	112900147	112900147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaggcgtctccaagtcaTttagtgatcatggtttctat	10	14	10	7	1	4	2	2	1	2	1	5	3	4	2	1	2	0	1	1	2	4	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:112900147T>A	ENST00000259318.7	+	2	1837	c.1630T>A	c.(1630-1632)Ttt>Att	p.F544I	AKAP2_ENST00000555236.1_Missense_Mutation_p.F775I|AKAP2_ENST00000374525.1_Missense_Mutation_p.F633I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.F775I|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.F775I|AKAP2_ENST00000434623.2_Missense_Mutation_p.F633I|AKAP2_ENST00000510514.5_Missense_Mutation_p.F775I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	544										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTCCAAGTCATTTAGTGATCA	0.542																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3019-3021)Ttt>Att		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							70	66	68					9																	112900147		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900147T>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1630T>A	9.37:g.112900147T>A	ENSP00000259318:p.Phe544Ile					PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.F544I	p.F1007I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			8	3211	+			544					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3019T>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135696	0.37728	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47869	2.16;2.16;2.16;2.16;1.41;0.83;0.83;1.44	5.96	4.83	0.62350	.	0.560464	0.20525	N	0.090638	T	0.32406	0.0828	N	0.24115	0.695	0.24694	N	0.9933	B;P;P;P;P;P;P;B	0.40083	0.1;0.57;0.546;0.702;0.577;0.617;0.617;0.335	B;B;B;B;B;B;B;B	0.39217	0.054;0.294;0.244;0.294;0.154;0.178;0.178;0.053	T	0.09509	-1.0671	10	0.23891	T	0.37	-9.9348	9.764	0.40550	0.0:0.0771:0.0:0.9229	.	544;633;627;633;634;775;775;593	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	775;775;775;775;633;633;593;544	ENSP00000363654:F775I;ENSP00000305861:F775I;ENSP00000451476:F775I;ENSP00000421522:F775I;ENSP00000404782:F633I;ENSP00000363649:F633I;ENSP00000419268:F593I;ENSP00000259318:F544I	ENSP00000259318:F544I	F	+	1	0	PALM2-AKAP2;AKAP2	111939968	0.647000	0.27304	0.077000	0.20336	0.824000	0.46624	1.922000	0.40045	1.081000	0.41110	0.533000	0.62120	TTT		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		A	112900147	T	A	112900147	3	1	81	1	0	0	0	0	1	0	0	0	451	1493	52	5	1903	5	AKAP2	9	112900147	Missense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	14230615	112900147	28313284	38	5487											
SVEP1	79987	broad.mit.edu	37	chr9	113189912	113189912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgttcctgaaagtgaaGttattccccgtaatgacagc	11	11	10	9	2	0	3	0	3	0	0	2	3	2	3	3	1	1	3	3	1	4	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:113189912G>T	ENST00000401783.2	-	36	6270	c.5934C>A	c.(5932-5934)aaC>aaA	p.N1978K	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.N1955K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1978	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAAGTGAAGTTATTCCCCG	0.527											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5932-5934)aaC>aaA		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							134	135	134					9																	113189912		2074	4210	6284	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113189912G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5934C>A	9.37:g.113189912G>T	ENSP00000384917:p.Asn1978Lys		OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1448	SVEP1_uc010mty.3_5'UTR	p.N1978K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			35	6271	-			1978			Sushi 10.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5934C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276733	0.59758	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.24538	1.85;1.85	6.17	4.34	0.51931	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	L	0.53729	1.69	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.13575	-1.0504	10	0.20519	T	0.43	.	10.6128	0.45432	0.1968:0.0:0.8032:0.0	.	1978	Q4LDE5	SVEP1_HUMAN	K	1978;1955	ENSP00000384917:N1978K;ENSP00000363593:N1955K	ENSP00000363593:N1955K	N	-	3	2	SVEP1	112229733	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	3.248000	0.51430	1.635000	0.50512	0.655000	0.94253	AAC		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113189912	G	T	113189912	3	4	81	1	0	0	0	0	1	0	0	0	15417	1020	36	5	4833	5	SVEP1	9	113189912	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	289765	113189912	28023519	39	5488											
NR5A1	2516	broad.mit.edu	37	chr9	127262849	127262849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtgcgggagggggcggCgggggcacccccatcggggg	3	3	23	12	5	0	0	0	0	0	0	2	1	1	1	3	9	1	1	3	9	0	0	rs368717361		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:127262849C>T	ENST00000373588.4	-	4	586	c.390G>A	c.(388-390)ccG>ccA	p.P130P		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	130					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GAGGGGGCGGCGGGGGCACCC	0.697													C|||	1	0.000199681	8e-04	0	5008	,	,		12911	0		0	False		,,,				2504	0					uc004boo.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(388-390)ccG>ccA		Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.		C		3,4247		0,3,2122	16	19	18		390	-7.6	0	9		18	0,8340		0,0,4170	no	coding-synonymous	NR5A1	NM_004959.4		0,3,6292	TT,TC,CC		0.0,0.0706,0.0238		130/462	127262849	3,12587	2125	4170	6295	SO:0001819	synonymous_variant	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127262849C>T	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.390G>A	9.37:g.127262849C>T						NR5A1_uc022bnh.1_Silent_p.P130P	p.P130P	NM_004959	NP_004950	Q13285	STF1_HUMAN			3	577	-			130					O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	c.390G>A	CCDS6856.1																																																																																				0.697	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		T	127262849	C	T	127262849	2	4	81	1	0	0	0	0	0	0	0	1	10635	755	27	1		1	NR5A1	9	127262849	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	14072937	127262849	13950582	40	5489											
PRRG4	79056	broad.mit.edu	37	chr11	32875008	32875008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtgtttcaccaccaccaCcatatcctgggcacacaaaa	14	7	5	15	0	1	0	1	0	0	0	2	0	2	0	5	1	0	2	5	1	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:32875008C>T	ENST00000257836.3	+	6	869	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	206	Poly-Pro.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ACCACCACCACCATATCCTGG	0.438																																						uc001mtx.3																			0				large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.(616-618)Cca>Tca		Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.							124	123	123					11																	32875008		2202	4299	6501	SO:0001583	missense	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32875008C>T	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.616C>T	11.37:g.32875008C>T	ENSP00000257836:p.Pro206Ser						p.P206S	NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN			5	877	+	Breast(20;0.206)		206			Poly-Pro.			Missense_Mutation	SNP	ENST00000257836.3	37	c.616C>T	CCDS7881.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417958	0.42918	.	.	ENSG00000135378	ENST00000257836	D	0.98400	-4.91	5.55	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.82823	2.61	0.50039	D	0.999842	P	0.40794	0.729	B	0.33392	0.163	D	0.95255	0.8363	10	0.23891	T	0.37	-7.3942	11.7337	0.51752	0.0:0.9165:0.0:0.0835	.	206	Q9BZD6	TMG4_HUMAN	S	206	ENSP00000257836:P206S	ENSP00000257836:P206S	P	+	1	0	PRRG4	32831584	0.998000	0.40836	0.585000	0.28666	0.005000	0.04900	2.208000	0.42797	1.348000	0.45733	0.544000	0.68410	CCA		0.438	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		T	32875008	C	T	32875008	3	4	81	1	0	0	0	0	1	0	0	0	12608	507	18	3	634	3	PRRG4	11	32875008	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		32875008	102131508	41	5490											
TRIM49	57093	broad.mit.edu	37	chr11	89531694	89531694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttctaggtgttgcagtGaaatagggtacatcttgatg	12	13	11	5	0	2	2	0	2	2	0	2	2	2	2	0	2	3	3	0	2	5	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:89531694G>A	ENST00000329758.1	-	8	1291	c.963C>T	c.(961-963)ttC>ttT	p.F321F	TRIM49_ENST00000532501.2_Silent_p.F244F	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGTTGCAGTGAAATAGGGTA	0.418																																						uc001pdb.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(961-963)ttC>ttT		Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.							13	18	16					11																	89531694		2100	4251	6351	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531694G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.963C>T	11.37:g.89531694G>A							p.F321F	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			7	1292	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	321			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.963C>T	CCDS8287.1																																																																																				0.418	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		A	89531694	G	A	89531694	2	1	81	1	0	0	0	0	0	0	0	1	16521	1281	45	3		3	TRIM49	11	89531694	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	56656686	89531694	45474822	42	5491											
ENO2	2026	broad.mit.edu	37	chr12	7026819	7026819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcagctgagcgggaactgCccctgtatcgccacattgct	7	8	13	13	2	0	1	0	1	0	0	1	2	0	2	3	2	5	4	3	2	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:7026819C>G	ENST00000535366.1	+	5	1011	c.385C>G	c.(385-387)Ccc>Gcc	p.P129A	ENO2_ENST00000538763.1_Missense_Mutation_p.P86A|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000229277.1_Missense_Mutation_p.P129A|ENO2_ENST00000541477.1_Missense_Mutation_p.P129A|ENO2_ENST00000544774.1_Missense_Mutation_p.P86A			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	129					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGAACTGCCCCTGTATCG	0.617																																						uc001qru.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(385-387)Ccc>Gcc		Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.							79	66	70					12																	7026819		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7026819C>G	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.385C>G	12.37:g.7026819C>G	ENSP00000437402:p.Pro129Ala					ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	p.P129A	NM_001975	NP_001966	P09104	ENOG_HUMAN			5	607	+			129					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.385C>G	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.043590	0.75732	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.79	4.79	0.61399	Enolase, N-terminal (1);	0.104232	0.64402	D	0.000002	T	0.75961	0.3921	H	0.99454	4.575	0.80722	D	1	P;P	0.44281	0.831;0.612	P;B	0.58172	0.834;0.442	D	0.86888	0.2046	10	0.87932	D	0	-18.1046	18.2686	0.90060	0.0:1.0:0.0:0.0	.	86;129	B7Z2X9;P09104	.;ENOG_HUMAN	A	129;129;86;86;129	ENSP00000438873:P129A;ENSP00000229277:P129A;ENSP00000441490:P86A;ENSP00000446195:P86A;ENSP00000437402:P129A	ENSP00000229277:P129A	P	+	1	0	ENO2	6897080	1.000000	0.71417	0.956000	0.39512	0.825000	0.46686	6.047000	0.71038	2.389000	0.81357	0.550000	0.68814	CCC		0.617	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			G	7026819	C	G	7026819	3	3	81	1	0	0	0	0	1	0	0	0	5122	739	26	5	403	5	ENO2	12	7026819	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		7026819	126825076	43	5492											
MLL2	8085	broad.mit.edu	37	chr12	49448322	49448322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcactcacctccaggttctCctaggtgggcaggtgtaagg	7	10	12	12	0	3	0	2	0	1	0	5	0	4	0	3	5	0	3	3	5	2	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:49448322C>T	ENST00000301067.7	-	3	388	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	130					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCAGGTTCTCCTAGGTGGGC	0.557																																						uc001rta.4										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(388-390)gGa>gAa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							18	20	19					12																	49448322		1935	4150	6085	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49448322C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.389G>A	12.37:g.49448322C>T	ENSP00000301067:p.Gly130Glu	HNSCC(34;0.089)					p.G130E	NM_003482	NP_003473	O14686	MLL2_HUMAN			2	389	-			130					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.389G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888835	0.33348	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	T	0.78924	-1.22	4.9	4.9	0.64082	.	.	.	.	.	T	0.71459	0.3342	N	0.08118	0	0.27734	N	0.944708	D	0.59357	0.985	P	0.55055	0.767	T	0.66968	-0.5789	9	0.87932	D	0	.	12.0514	0.53509	0.1726:0.8274:0.0:0.0	.	130	O14686	MLL2_HUMAN	E	130	ENSP00000301067:G130E	ENSP00000301067:G130E	G	-	2	0	MLL2	47734589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.955000	0.40372	2.247000	0.74100	0.557000	0.71058	GGA		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49448322	C	T	49448322	3	4	81	1	0	0	0	0	1	0	0	0	9621	855	30	3	16432	3	MLL2	12	49448322	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	42421503	49448322	84403573	44	5493											
LRRIQ1	84125	broad.mit.edu	37	chr12	85492269	85492269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttactgatgtagagggCgttgaaaattgtggattgct	10	14	12	5	1	1	3	0	2	1	1	1	4	1	4	0	2	2	3	0	2	4	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85492269C>T	ENST00000393217.2	+	12	3085	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1008										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGTAGAGGGCGTTGAAAATT	0.343																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3022-3024)ggC>ggT		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							104	104	104					12																	85492269		2203	4297	6500	SO:0001819	synonymous_variant	84125							g.chr12:85492269C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3024C>T	12.37:g.85492269C>T						LRRIQ1_uc021rbo.1_Silent_p.G886G	p.G1008G	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	3135	+			1008					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.3024C>T	CCDS41816.1																																																																																				0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85492269	C	T	85492269	2	4	81	1	0	0	0	0	0	0	0	1	9029	755	27	1		1	LRRIQ1	12	85492269	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	36043947	85492269	48359626	45	5494											
LRRIQ1	84125	broad.mit.edu	37	chr12	85546073	85546073	+	Frame_Shift_Del	DEL	G	G	-																															tgcaggctgccttagaagaaGaatggctagcattagattcc																										TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85546073delG	ENST00000393217.2	+	20	4406	c.4345delG	c.(4345-4347)gaafs	p.E1449fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1449										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTAGAAGAAGAATGGCTAGC	0.353																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4345-4347)gaafs		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							124	116	119					12																	85546073		1855	4090	5945	SO:0001589	frameshift_variant	84125							g.chr12:85546073delG	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4345delG	12.37:g.85546073delG	ENSP00000376910:p.Glu1449fs						p.E1449fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	19	4456	+			1449					Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	c.4345delG	CCDS41816.1																																																																																				0.353	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		-	85546073	G	-	85546073	7	5	81	1	0	1	0	1	0	0	0	0	9029	943	33	0	4423	0	LRRIQ1	12	85546073	Frame_Shift_Del	DEL	G	TCGA-06-2564-01A-01D-1494-08	53804	85546073	48305822	46	5495											
GPR81	27198	broad.mit.edu	37	chr12	123214178	123214178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagagtctagcagacaCgctgggcaggtagcatgtga	13	7	14	7	1	1	3	0	1	1	2	1	4	1	3	0	2	2	5	0	2	4	3	rs371072988		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:123214178C>T	ENST00000436083.2	-	1	1212	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	HCAR1_ENST00000356987.2_Missense_Mutation_p.V237M|HCAR1_ENST00000432564.1_Missense_Mutation_p.V237M			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	237					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CTAGCAGACACGCTGGGCAGG	0.582																																						uc001ucz.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(709-711)Gtg>Atg		Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	69	64	66		709	5.3	1	12		66	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCAR1	NM_032554.3	21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	237/347	123214178	3,13003	2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214178C>T	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.709G>A	12.37:g.123214178C>T	ENSP00000409980:p.Val237Met					HCAR1_uc001ucw.1_Non-coding_Transcript	p.V237M	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN			0	952	-			237					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.709G>A	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107256	0.56291	2.27E-4	2.33E-4	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.38077	1.16;1.16;1.16	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.439796	0.22609	N	0.057852	T	0.55497	0.1924	M	0.76574	2.34	0.34966	D	0.752703	D	0.89917	1.0	D	0.70016	0.967	T	0.64466	-0.6401	10	0.33940	T	0.23	-11.6254	10.0403	0.42153	0.0:0.9082:0.0:0.0918	.	237	Q9BXC0	HCAR1_HUMAN	M	237	ENSP00000349478:V237M;ENSP00000389255:V237M;ENSP00000409980:V237M	ENSP00000349478:V237M	V	-	1	0	HCAR1	121780131	0.527000	0.26306	0.984000	0.44739	0.606000	0.37113	2.350000	0.44063	2.474000	0.83562	0.655000	0.94253	GTG		0.582	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			T	123214178	C	T	123214178	3	4	81	1	0	0	0	0	1	0	0	0	6711	536	19	1	335	1	GPR81	12	123214178	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	37668105	123214178	10637717	47	5496											
ZNF10	7556	broad.mit.edu	37	chr12	133732279	133732279	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagagacatttgaggcaAgtggcattcacccaaaagaa	16	6	10	9	0	1	4	1	1	0	3	1	5	1	4	2	2	0	2	2	2	4	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732279A>G	ENST00000248211.6	+	5	669	c.447A>G	c.(445-447)caA>caG	p.Q149Q	ZNF10_ENST00000426665.2_Silent_p.Q149Q|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	149				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTTGAGGCAAGTGGCATTCA	0.428																																						uc009zzb.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(445-447)caA>caG		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							109	105	107					12																	133732279		2203	4300	6503	SO:0001819	synonymous_variant	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732279A>G	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.447A>G	12.37:g.133732279A>G						ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.Q149Q	p.Q149Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	894	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	149	Missing (in Ref. 1).				B2RBS1|Q8TC91	Silent	SNP	ENST00000248211.6	37	c.447A>G	CCDS9283.1																																																																																				0.428	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		G	133732279	A	G	133732279	2	3	81	1	0	0	0	0	0	0	0	1	17709	69	3	4		4	ZNF10	12	133732279	Silent	SNP	A	TCGA-06-2564-01A-01D-1494-08	10518101	133732279	119616	48	5497			1	20		3	3	182	N	T_A	1.060551e-07
ZNF10	7556	broad.mit.edu	37	chr12	133732444	133732444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttagttcttaatggtcaTcaggacagttgtgcaagtaa	12	14	10	5	0	3	0	2	0	1	0	3	2	3	1	0	2	1	4	0	2	4	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732444T>A	ENST00000248211.6	+	5	834	c.612T>A	c.(610-612)caT>caA	p.H204Q	ZNF10_ENST00000426665.2_Missense_Mutation_p.H204Q|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	204				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTAATGGTCATCAGGACAGTT	0.363																																						uc009zzb.3																			0		p.G203G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(610-612)caT>caA		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							125	118	120					12																	133732444		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732444T>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.612T>A	12.37:g.133732444T>A	ENSP00000248211:p.His204Gln					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.H204Q	p.H204Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1059	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	204	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.612T>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635573	0.47049	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.04758	3.56;3.56;4.59	4.22	1.91	0.25777	.	0.000000	0.37053	N	0.002277	T	0.03651	0.0104	L	0.41492	1.28	0.80722	D	1	B	0.30281	0.275	B	0.29524	0.103	T	0.49476	-0.8936	9	.	.	.	.	3.7576	0.08592	0.1647:0.1927:0.0:0.6426	.	204	P21506	ZNF10_HUMAN	Q	204;204;162	ENSP00000248211:H204Q;ENSP00000393814:H204Q;ENSP00000437397:H162Q	.	H	+	3	2	ZNF10	132242517	0.998000	0.40836	0.995000	0.50966	0.942000	0.58702	1.245000	0.32790	0.777000	0.33496	0.533000	0.62120	CAT		0.363	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		A	133732444	T	A	133732444	3	1	81	1	0	0	0	0	1	0	0	0	17709	1432	50	5	626	5	ZNF10	12	133732444	Missense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	165	133732444	119451	49	5498			1	20		3	3	182	N	T_A	1.060551e-07
ZNF10	7556	broad.mit.edu	37	chr12	133732460	133732460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatcaggacagttgtgcaAgtaacagtaatgaatgtggt	13	11	12	5	0	2	1	2	1	0	0	2	2	2	2	0	2	2	4	0	2	4	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732460A>G	ENST00000248211.6	+	5	850	c.628A>G	c.(628-630)Agt>Ggt	p.S210G	ZNF10_ENST00000426665.2_Missense_Mutation_p.S210G|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	210				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGTTGTGCAAGTAACAGTAA	0.358																																						uc009zzb.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(628-630)Agt>Ggt		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							134	124	127					12																	133732460		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732460A>G	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.628A>G	12.37:g.133732460A>G	ENSP00000248211:p.Ser210Gly					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.S210G	p.S210G	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1075	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	210	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.628A>G	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	3.959	-0.010784	0.07727	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.05081	3.5;3.5;4.79	4.22	0.277	0.15668	Zinc finger, C2H2 (1);	0.948148	0.08665	N	0.911772	T	0.01730	0.0055	N	0.00754	-1.215	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48258	-0.9051	9	.	.	.	.	4.1054	0.10035	0.4755:0.0:0.3668:0.1576	.	210	P21506	ZNF10_HUMAN	G	210;210;168	ENSP00000248211:S210G;ENSP00000393814:S210G;ENSP00000437397:S168G	.	S	+	1	0	ZNF10	132242533	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	0.079000	0.14782	0.185000	0.20105	0.533000	0.62120	AGT		0.358	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		G	133732460	A	G	133732460	3	3	81	1	0	0	0	0	1	0	0	0	17709	72	3	4	642	4	ZNF10	12	133732460	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	16	133732460	119435	50	5499			1	20		3	3	182	N	T_A	1.060551e-07
POTEG	404785	broad.mit.edu	37	chr14	19553826	19553826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgaggtaccacgtccgtcGagaagatctggacaagctcc	10	6	12	13	4	1	2	0	0	1	2	4	5	3	3	4	2	2	2	4	2	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19553826G>A	ENST00000409832.3	+	1	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	137										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGTCCGTCGAGAAGATCTG	0.577																																						uc001vuz.1																			0		p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(409-411)cGa>cAa		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							65	71	69					14																	19553826		1618	3388	5006	SO:0001583	missense	404785							g.chr14:19553826G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.410G>A	14.37:g.19553826G>A	ENSP00000386971:p.Arg137Gln					POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	p.R137Q	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			0	462	+			137					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.410G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.677	0.309483	0.10733	.	.	ENSG00000222036	ENST00000409832	T	0.52983	0.64	1.31	0.0956	0.14486	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.27454	0.0674	L	0.34521	1.04	0.09310	N	1	B	0.21905	0.062	B	0.09377	0.004	T	0.20438	-1.0275	9	0.13470	T	0.59	.	3.0801	0.06259	0.7125:0.0:0.2875:0.0	.	137	Q6S5H5	POTEG_HUMAN	Q	137	ENSP00000386971:R137Q	ENSP00000386971:R137Q	R	+	2	0	POTEG	18623826	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.641000	0.24720	0.009000	0.14813	0.174000	0.16983	CGA		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553826	G	A	19553826	3	1	81	1	0	0	0	0	1	0	0	0	12266	1058	37	2	412	2	POTEG	14	19553826	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		19553826	87795714	51	5500											
POTEG	404785	broad.mit.edu	37	chr14	19566060	19566060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaacagatgctaaaagtCtcttctgaaaacagcaatcc	18	8	6	9	0	2	2	0	1	2	1	4	3	3	2	1	0	4	2	1	0	7	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19566060C>G	ENST00000409832.3	+	6	1156	c.1104C>G	c.(1102-1104)gtC>gtG	p.V368V	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	368										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTAAAAGTCTCTTCTGAAA	0.323																																						uc001vuz.1																			0		p.V368F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1102-1104)gtC>gtG		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							82	96	91					14																	19566060		1508	2699	4207	SO:0001819	synonymous_variant	404785							g.chr14:19566060C>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1104C>G	14.37:g.19566060C>G						POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	p.V368V	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1156	+			368					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.1104C>G	CCDS32018.1																																																																																				0.323	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		G	19566060	C	G	19566060	2	3	81	1	0	0	0	0	0	0	0	1	12266	900	32	5		5	POTEG	14	19566060	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	12234	19566060	87783480	52	5501											
ADCY4	196883	broad.mit.edu	37	chr14	24801072	24801072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaacgtggcccgcagggcGcgctccatcagcgccttgtg	5	6	15	15	6	1	0	1	0	0	0	2	1	2	1	3	3	2	2	3	3	1	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:24801072G>A	ENST00000310677.4	-	5	704	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ADCY4_ENST00000554068.2_Silent_p.R197R|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.R197R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	197					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCCGCAGGGCGCGCTCCATCA	0.667																																						uc001wow.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(589-591)cgC>cgT		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							27	28	27					14																	24801072		2201	4300	6501	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24801072G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.591C>T	14.37:g.24801072G>A						ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.R197R|ADCY4_uc001woy.3_Silent_p.R197R	p.R197R	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	3	1010	-			197					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.591C>T	CCDS9627.1																																																																																				0.667	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24801072	G	A	24801072	2	1	81	1	0	0	0	0	0	0	0	1	296	1074	38	1		1	ADCY4	14	24801072	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	5235012	24801072	82548468	53	5502											
SYT16	83851	broad.mit.edu	37	chr14	62547865	62547865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgctgtccgcttccGcctgtacgctgcccggaaga	4	10	12	15	4	0	1	0	0	0	1	2	2	2	2	5	1	4	4	5	1	2	2	rs368814141		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:62547865G>A	ENST00000430451.2	+	4	1504	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	436	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.R416H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTCCGCTTCCGCCTGTACGCT	0.562																																						uc001xfu.1																			1	Substitution - Missense(1)	p.R416H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1306-1308)cGc>cAc		Homo sapiens synaptotagmin XVI (SYT16), mRNA.		G	HIS/ARG	0,4356		0,0,2178	31	35	34		1307	5	1	14		34	1,8579		0,1,4289	no	missense	SYT16	NM_031914.2	29	0,1,6467	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	436/646	62547865	1,12935	2178	4290	6468	SO:0001583	missense	83851							g.chr14:62547865G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1307G>A	14.37:g.62547865G>A	ENSP00000394700:p.Arg436His					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.R436H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1504	+			436			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1307G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238157	0.95240	0.0	1.17E-4	ENSG00000139973	ENST00000430451	T	0.69175	-0.38	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81512	-0.0899	10	0.62326	D	0.03	-31.7789	18.7783	0.91920	0.0:0.0:1.0:0.0	.	436	Q17RD7	SYT16_HUMAN	H	436	ENSP00000394700:R436H	ENSP00000394700:R436H	R	+	2	0	SYT16	61617618	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.601000	0.98297	2.731000	0.93534	0.650000	0.86243	CGC		0.562	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		A	62547865	G	A	62547865	3	1	81	1	0	0	0	0	1	0	0	0	15469	1087	38	1	1321	1	SYT16	14	62547865	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	37746793	62547865	44801675	54	5503											
C15orf48	84419	broad.mit.edu	37	chr15	45723253	45723253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtggagcctcatctttcGctgtgtattctctttggaaa	6	15	11	9	2	3	0	1	0	2	0	5	2	3	2	1	3	1	2	1	3	2	4	rs143173357		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:45723253G>A	ENST00000344300.3	+	2	281	c.91G>A	c.(91-93)Gct>Act	p.A31T	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.A31T|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	31						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A31P(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTCATCTTTCGCTGTGTATTC	0.413																																						uc001zvg.3																			1	Substitution - Missense(1)	p.A31P(2)	ovary(1)	large_intestine(1)|lung(2)|ovary(1)	4						c.(91-93)Gct>Act		Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA	0,4396		0,0,2198	191	180	184		91,91	4.7	0.2	15	dbSNP_134	184	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	C15orf48	NM_032413.2,NM_197955.1	58,58	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	31/84,31/84	45723253	1,12991	2198	4298	6496	SO:0001583	missense	84419					nucleus		g.chr15:45723253G>A		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.91G>A	15.37:g.45723253G>A	ENSP00000341610:p.Ala31Thr					C15orf48_uc001zvh.3_Missense_Mutation_p.A31T|C15orf48_uc021skp.1_5'Flank	p.A31T	NM_197955	NP_922946	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	2	209	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	31						Missense_Mutation	SNP	ENST00000344300.3	37	c.91G>A	CCDS10124.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237959	0.79800	0.0	1.16E-4	ENSG00000166920	ENST00000396650;ENST00000344300	T;T	0.76578	-1.03;-1.03	5.69	4.71	0.59529	.	0.360238	0.29473	N	0.012058	T	0.65719	0.2718	.	.	.	0.09310	N	1	P	0.49090	0.919	B	0.41917	0.37	T	0.59032	-0.7530	9	0.25106	T	0.35	-28.5648	10.4461	0.44495	0.0:0.0:0.7227:0.2773	.	31	Q9C002	NMES1_HUMAN	T	31	ENSP00000379887:A31T;ENSP00000341610:A31T	ENSP00000341610:A31T	A	+	1	0	C15orf48	43510545	0.101000	0.21875	0.167000	0.22817	0.090000	0.18270	1.741000	0.38238	2.702000	0.92279	0.591000	0.81541	GCT		0.413	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		A	45723253	G	A	45723253	3	1	81	1	0	0	0	0	1	0	0	0	1799	1087	38	1	97	1	C15orf48	15	45723253	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		45723253	56808139	55	5504											
CCDC33	80125	broad.mit.edu	37	chr15	74564064	74564064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttctccggggagtcaaCgagcccctggccaacaaccc	9	7	9	16	2	3	0	1	0	2	0	4	2	3	1	5	3	4	0	5	3	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74564064C>T	ENST00000398814.3	+	6	998	c.567C>T	c.(565-567)aaC>aaT	p.N189N	CCDC33_ENST00000321288.5_Silent_p.N392N	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	392										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGAGTCAACGAGCCCCTGG	0.592																																						uc002axo.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(565-567)aaC>aaT		Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.							41	44	43					15																	74564064		1987	4144	6131	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74564064C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.567C>T	15.37:g.74564064C>T						CCDC33_uc002axp.3_Silent_p.N11N	p.N189N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			5	961	+			392					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.567C>T	CCDS42058.1																																																																																				0.592	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74564064	C	T	74564064	2	4	81	1	0	0	0	0	0	0	0	1	2806	535	19	1		1	CCDC33	15	74564064	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	28840811	74564064	27967328	56	5505											
CCDC33	80125	broad.mit.edu	37	chr15	74573074	74573074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgccgctaaagagcCgtttgtaccagaagatgctg	9	11	12	9	2	0	3	0	0	0	3	0	3	0	3	3	0	4	5	3	0	4	4	rs201740638		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74573074C>T	ENST00000398814.3	+	9	1386	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCDC33_ENST00000321288.5_Missense_Mutation_p.R522C	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	522	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTAAAGAGCCGTTTGTACCA	0.612																																						uc002axo.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(955-957)Cgt>Tgt		Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.		T	CYS/ARG	0,3844		0,0,1922	85	93	91		955	4.5	0	15		91	3,8297		0,3,4147	yes	missense	CCDC33	NM_025055.3	180	0,3,6069	TT,TC,CC		0.0361,0.0,0.0247	probably-damaging	319/756	74573074	3,12141	1922	4150	6072	SO:0001583	missense	80125						protein binding	g.chr15:74573074C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.955C>T	15.37:g.74573074C>T	ENSP00000381795:p.Arg319Cys					CCDC33_uc002axp.3_Missense_Mutation_p.R141C	p.R319C	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			8	1349	+			522			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.955C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.563909	0.27915	0.0	3.61E-4	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.26067	1.76;2.09	5.42	4.51	0.55191	.	0.524779	0.18517	N	0.138888	T	0.41858	0.1177	L	0.60455	1.87	0.09310	N	1	D;D	0.89917	1.0;0.998	P;P	0.61722	0.893;0.855	T	0.22591	-1.0212	10	0.72032	D	0.01	.	10.3804	0.44108	0.0:0.9093:0.0:0.0907	.	522;319	C9JFX2;Q8N5R6-6	.;.	C	522;319	ENSP00000325012:R522C;ENSP00000381795:R319C	ENSP00000325012:R522C	R	+	1	0	CCDC33	72360127	0.008000	0.16893	0.001000	0.08648	0.007000	0.05969	1.801000	0.38843	1.294000	0.44707	-0.185000	0.12909	CGT		0.612	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74573074	C	T	74573074	3	4	81	1	0	0	0	0	1	0	0	0	2806	652	23	2	989	2	CCDC33	15	74573074	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	9010	74573074	27958318	57	5506											
ITGAX	3687	broad.mit.edu	37	chr16	31374348	31374348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggggccccccattactaCgagcagacccgagggggcca	9	4	13	15	3	0	1	0	0	0	1	1	3	0	1	5	4	3	1	5	4	2	2	rs199963723	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													C|||	2	0.000399361	0	0.0014	5008	,	,		11492	0		0	False		,,,				2504	0.001					uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1450-1452)taC>taT		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.		C		0,4394		0,0,2197	43	49	47		1452	-7.2	0.5	16		47	2,8592		0,2,4295	no	coding-synonymous	ITGAX	NM_000887.3		0,2,6492	TT,TC,CC		0.0233,0.0,0.0154		484/1164	31374348	2,12986	2197	4297	6494	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374348C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1452C>T	16.37:g.31374348C>T						ITGAX_uc002ebu.1_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	p.Y484Y	NM_000887	NP_000878	P20702	ITAX_HUMAN			12	1519	+			484					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1452C>T	CCDS10711.1																																																																																				0.677	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31374348	C	T	31374348	2	4	81	1	0	0	0	0	0	0	0	1	7889	547	19	1		1	ITGAX	16	31374348	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		31374348	58980405	58	5507											
MYLK3	91807	broad.mit.edu	37	chr16	46755087	46755087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtcctgtctgattgaCgcacaatatgttctccggct	7	15	9	10	2	2	3	0	3	2	0	4	3	3	3	2	1	0	3	2	1	2	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:46755087C>T	ENST00000394809.4	-	9	2048	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	MYLK3_ENST00000536476.1_Missense_Mutation_p.V304I	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.V724I(1)|p.V645I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCTGATTGACGCACAATATG	0.448																																						uc002eei.4																			2	Substitution - Missense(2)	p.V724I(1)|p.V645I(1)	large_intestine(2)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1933-1935)Gtc>Atc		Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.							125	124	125					16																	46755087		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46755087C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1933G>A	16.37:g.46755087C>T	ENSP00000378288:p.Val645Ile					MYLK3_uc010vge.2_Missense_Mutation_p.V304I	p.V645I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			8	2049	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	645			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1933G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699938	0.88924	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.39406	1.08;1.08	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32518	N	0.005993	T	0.43211	0.1237	L	0.31752	0.955	0.48830	D	0.999719	P	0.39282	0.666	P	0.44623	0.455	T	0.39941	-0.9589	10	0.62326	D	0.03	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	645	Q32MK0	MYLK3_HUMAN	I	645;304	ENSP00000378288:V645I;ENSP00000439297:V304I	ENSP00000378288:V645I	V	-	1	0	MYLK3	45312588	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.891000	0.56227	2.666000	0.90696	0.557000	0.71058	GTC		0.448	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		T	46755087	C	T	46755087	3	4	81	1	0	0	0	0	1	0	0	0	10058	536	19	1	546	1	MYLK3	16	46755087	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	15380739	46755087	43599666	59	5508											
SLC2A4	6517	broad.mit.edu	37	chr17	7187697	7187697	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgaggggcctgccagaaaGagtaagctctcccgctgcag	9	6	13	13	2	1	2	0	0	1	2	3	3	1	2	3	2	3	4	3	2	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:7187697G>A	ENST00000317370.8	+	6	994	c.726G>A	c.(724-726)aaG>aaA	p.K242K	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Splice_Site_p.K242K|SLC2A4_ENST00000424875.2_Splice_Site_p.K232K	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	242					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGAAAGAGTAAGCTCT	0.632																																						uc002gfp.3																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.e6+1		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.							32	34	33					17																	7187697		2203	4300	6503	SO:0001630	splice_region_variant	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187697G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.727+1G>A	17.37:g.7187697G>A						SLC2A4_uc010cmd.3_Splice_Site|SLC2A4_uc021tpa.1_Splice_Site_p.S233_splice	p.S243_splice	NM_001042	NP_001033	P14672	GTR4_HUMAN			6	927	+			243					Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	c.727_splice	CCDS11097.1																																																																																				0.632	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		Silent	A	7187697	G	A	7187697	5	1	81	1	0	0	0	0	0	0	1	0	14546	956	33	3	748	3	SLC2A4	17	7187697	Splice_Site	SNP	G	TCGA-06-2564-01A-01D-1494-08		7187697	74007513	60	5509											
MYOCD	93649	broad.mit.edu	37	chr17	12666835	12666835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctggacctcactccGccaaattccacaccaggctt	9	8	9	15	1	1	0	1	0	0	0	3	2	3	1	5	3	0	2	5	3	1	2	rs149918258		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:12666835G>A	ENST00000343344.4	+	13	2691	c.2691G>A	c.(2689-2691)ccG>ccA	p.P897P	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Silent_p.P945P			Q8IZQ8	MYCD_HUMAN	myocardin	897					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCTCACTCCGCCAAATTCCA	0.512																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(2833-2835)ccG>ccA		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	64	58	60		2835,2691	-3.2	0.9	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_153604.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	945/987,897/939	12666835	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666835G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2691G>A	17.37:g.12666835G>A						MYOCD_uc002gnn.2_Silent_p.P897P|MYOCD_uc002gnq.2_Silent_p.P621P	p.P945P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	3134	+			897					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.2835G>A	CCDS11163.1																																																																																				0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12666835	G	A	12666835	2	1	81	1	0	0	0	0	0	0	0	1	10087	1074	38	1		1	MYOCD	17	12666835	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	5479138	12666835	68528375	61	5510											
KCNJ12	3768	broad.mit.edu	37	chr17	21319341	21319341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggaggcccatgtgcgCgcgcagctcatcaagccgcg	7	7	14	13	5	2	0	2	0	0	0	2	1	2	1	2	2	3	2	2	2	1	1	rs569037483	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	229					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCATGTGCGCGCGCAGCTCA	0.642										Prostate(3;0.18)			.|||	4	0.000798722	0	0	5008	,	,		38914	0.004		0	False		,,,				2504	0					uc021tss.1																			2	Substitution - coding silent(2)	p.R229R(2)	breast(1)|endometrium(1)								c.(685-687)cgC>cgT		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.							87	70	76					17																	21319341		2203	4300	6503	SO:0001819	synonymous_variant	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319341C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.687C>T	17.37:g.21319341C>T						KCNJ18_uc002gyv.1_Silent_p.R229R|KCNJ18_uc021tst.1_Silent_p.R229R	p.R229R	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	1057	+			229					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.687C>T	CCDS11219.1																																																																																				0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319341	C	T	21319341	2	4	81	1	0	0	0	0	0	0	0	1	8046	755	27	1		1	KCNJ12	17	21319341	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	8652506	21319341	59875869	62	5511											
RHBDF2	79651	broad.mit.edu	37	chr17	74473065	74473065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttggaggcgatgcgcttgCcgcgccggggcccggggact	3	6	18	14	6	0	0	0	0	0	0	0	3	0	2	4	6	2	1	4	6	0	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:74473065C>T	ENST00000313080.4	-	9	1322	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	RHBDF2_ENST00000591885.1_Missense_Mutation_p.G321D|RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000389760.4_Missense_Mutation_p.G321D	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	350					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GATGCGCTTGCCGCGCCGGGG	0.647																																						uc002jrq.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(1048-1050)gGc>gAc		Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.							37	51	46					17																	74473065		2201	4299	6500	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473065C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1049G>A	17.37:g.74473065C>T	ENSP00000322775:p.Gly350Asp					RHBDF2_uc021udh.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	p.G350D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			8	1343	-			350					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.1049G>A	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302836	0.95601	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.60672	0.17;0.17	5.54	5.54	0.83059	.	0.167982	0.52532	D	0.000066	T	0.77611	0.4156	M	0.73962	2.25	0.58432	D	0.999996	D;D;P;D	0.89917	1.0;1.0;0.884;0.998	D;D;B;D	0.83275	0.996;0.994;0.41;0.962	T	0.79614	-0.1730	10	0.87932	D	0	-38.8423	19.4819	0.95013	0.0:1.0:0.0:0.0	.	321;296;350;321	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	D	350;321;296	ENSP00000322775:G350D;ENSP00000374410:G321D	ENSP00000322775:G350D	G	-	2	0	RHBDF2	71984660	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	7.405000	0.80007	2.595000	0.87683	0.655000	0.94253	GGC		0.647	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		T	74473065	C	T	74473065	3	4	81	1	0	0	0	0	1	0	0	0	13320	739	26	3	1565	3	RHBDF2	17	74473065	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	53153724	74473065	6722145	63	5512											
POLI	11201	broad.mit.edu	37	chr18	51809324	51809324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaatttcagttgctcagcGtatccaaaagctcagttttg	11	13	9	8	1	3	0	3	0	0	0	4	1	4	1	1	1	3	5	1	1	4	5	rs146107490		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr18:51809324G>A	ENST00000579534.1	+	6	1057	c.914G>A	c.(913-915)cGt>cAt	p.R305H	POLI_ENST00000406285.3_Missense_Mutation_p.R226H|POLI_ENST00000217800.5_Missense_Mutation_p.R179H|POLI_ENST00000579434.1_Missense_Mutation_p.R202H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	305					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GTTGCTCAGCGTATCCAAAAG	0.393								DNA polymerases (catalytic subunits)																														uc002lfj.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(913-915)cGt>cAt	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54	52	53		914	2.2	1	18	dbSNP_134	53	0,8598		0,0,4299	yes	missense	POLI	NM_007195.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	305/741	51809324	1,13003	2203	4299	6502	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51809324G>A		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.914G>A	18.37:g.51809324G>A	ENSP00000462664:p.Arg305His					POLI_uc010xds.2_Missense_Mutation_p.R226H|POLI_uc002lfk.4_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.3_5'UTR	p.R305H	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	5	982	+			305					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.914G>A	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229404	0.39399	2.27E-4	0.0	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.22945	1.93	5.96	2.25	0.28309	DNA polymerase, Y-family, little finger domain (1);	0.254100	0.38436	N	0.001681	T	0.27169	0.0666	M	0.77820	2.39	0.54753	D	0.999983	B;B	0.31459	0.324;0.263	B;B	0.28465	0.09;0.021	T	0.03335	-1.1047	10	0.38643	T	0.18	-4.9255	9.3384	0.38065	0.3562:0.0:0.6438:0.0	.	225;305	B7Z780;Q9UNA4	.;POLI_HUMAN	H	226;305	ENSP00000385196:R226H	ENSP00000217800:R305H	R	+	2	0	POLI	50063322	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	2.436000	0.44819	0.143000	0.18926	-0.140000	0.14226	CGT		0.393	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		A	51809324	G	A	51809324	3	1	81	1	0	0	0	0	1	0	0	0	12203	1145	40	1	936	1	POLI	18	51809324	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		51809324	26267924	64	5513											
ZNF77	58492	broad.mit.edu	37	chr19	2933838	2933838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggcttctctccagtatgCgtcctcacgtggattcgaag	8	11	11	11	3	2	0	1	0	1	0	6	2	4	1	2	2	1	2	2	2	3	3	rs201521069	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:2933838C>T	ENST00000314531.4	-	4	1379	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGTATGCGTCCTCACGT	0.512													C|||	3	0.000599042	8e-04	0.0029	5008	,	,		24258	0		0	False		,,,				2504	0					uc002lws.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1285-1287)acG>acA		Homo sapiens zinc finger protein 77 (ZNF77), mRNA.							97	81	86					19																	2933838		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933838C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1287G>A	19.37:g.2933838C>T							p.T429T	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1418	-			429					Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.1287G>A	CCDS12099.1																																																																																				0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		T	2933838	C	T	2933838	2	4	81	1	0	0	0	0	0	0	0	1	18139	755	27	1		1	ZNF77	19	2933838	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		2933838	56195145	65	5514											
TJP3	27134	broad.mit.edu	37	chr19	3735631	3735631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcggaaccagatgagcaaCggtcaggtgggtggtgactc	9	8	15	9	2	2	3	1	2	1	1	4	4	2	4	1	5	3	1	1	5	2	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:3735631C>T	ENST00000541714.2	+	9	1516	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	TJP3_ENST00000382008.3_Missense_Mutation_p.R366W|TJP3_ENST00000589378.1_Missense_Mutation_p.R361W|TJP3_ENST00000587686.1_Missense_Mutation_p.R371W|TJP3_ENST00000539908.2_Missense_Mutation_p.R316W|TJP3_ENST00000262968.9_Missense_Mutation_p.R385W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	352					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGAGCAACGGTCAGGTGG	0.602																																						uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1153-1155)Cgg>Tgg		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							93	98	96					19																	3735631		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735631C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1054C>T	19.37:g.3735631C>T	ENSP00000439278:p.Arg352Trp					TJP3_uc010xhs.2_Missense_Mutation_p.R352W|TJP3_uc010xht.2_Missense_Mutation_p.R316W|TJP3_uc010xhu.2_Missense_Mutation_p.R361W|TJP3_uc010xhw.2_Missense_Mutation_p.R371W	p.R385W	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1153	+			366					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1153C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007284	0.19199	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09350	2.99;3.16;3.01;3.11	3.07	-3.83	0.04269	.	1.080780	0.07078	N	0.836579	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	1	P;D;P;P	0.71674	0.955;0.998;0.925;0.923	B;P;B;B	0.54924	0.436;0.764;0.2;0.436	T	0.11179	-1.0598	10	0.62326	D	0.03	.	0.5567	0.00672	0.3871:0.2504:0.1275:0.235	.	371;385;366;352	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	W	352;316;366;385	ENSP00000439278:R352W;ENSP00000439991:R316W;ENSP00000371438:R366W;ENSP00000262968:R385W	ENSP00000262968:R385W	R	+	1	2	TJP3	3686631	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.268000	0.00533	-0.754000	0.04715	-0.535000	0.04281	CGG		0.602	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3735631	C	T	3735631	3	4	81	1	0	0	0	0	1	0	0	0	15928	527	19	1	1183	1	TJP3	19	3735631	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	801793	3735631	55393352	66	5515											
SH2D3A	10045	broad.mit.edu	37	chr19	6760704	6760704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctcgctaaagctgcGtcgcagaggcccctgccaag	7	7	13	14	3	0	1	0	0	0	1	3	1	1	1	4	2	3	3	4	2	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:6760704G>A	ENST00000245908.6	-	3	633	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	122					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTAAAGCTGCGTCGCAGAGGC	0.612																																						uc002mft.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(364-366)Cgc>Tgc		Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.							42	41	41					19																	6760704		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760704G>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.364C>T	19.37:g.6760704G>A	ENSP00000245908:p.Arg122Cys					SH2D3A_uc010xjg.2_Intron	p.R122C	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			2	558	-			122					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.364C>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430282	0.25726	.	.	ENSG00000125731	ENST00000245908	T	0.14640	2.49	4.97	2.85	0.33270	.	0.000000	0.42964	D	0.000625	T	0.08403	0.0209	N	0.25144	0.715	0.20489	N	0.999891	B	0.12630	0.006	B	0.06405	0.002	T	0.27839	-1.0062	10	0.35671	T	0.21	-14.3404	7.6349	0.28261	0.1911:0.0:0.8089:0.0	.	122	Q9BRG2	SH23A_HUMAN	C	122	ENSP00000245908:R122C	ENSP00000245908:R122C	R	-	1	0	SH2D3A	6711704	0.622000	0.27085	0.290000	0.24890	0.036000	0.12997	1.537000	0.36083	0.707000	0.31934	-0.266000	0.10368	CGC		0.612	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		A	6760704	G	A	6760704	3	1	81	1	0	0	0	0	1	0	0	0	14233	1145	40	1	1398	1	SH2D3A	19	6760704	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	3025073	6760704	52368279	67	5516											
FBN3	84467	broad.mit.edu	37	chr19	8154483	8154483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagggacactcacagcGgaaggatccatcggtgttga	12	6	13	10	2	1	1	1	1	0	0	3	4	2	4	2	4	1	1	2	4	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:8154483G>A	ENST00000600128.1	-	51	6736	c.6322C>T	c.(6322-6324)Cgc>Tgc	p.R2108C	FBN3_ENST00000270509.2_Missense_Mutation_p.R2108C|FBN3_ENST00000601739.1_Missense_Mutation_p.R2108C			Q75N90	FBN3_HUMAN	fibrillin 3	2108	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTCACAGCGGAAGGATCCA	0.607																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6322-6324)Cgc>Tgc		Homo sapiens fibrillin 3 (FBN3), mRNA.							209	176	187					19																	8154483		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8154483G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6322C>T	19.37:g.8154483G>A	ENSP00000470498:p.Arg2108Cys					FBN3_uc002mje.3_5'UTR	p.R2108C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			49	6339	-			2108			EGF-like 33; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6322C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729904	0.89390	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.83837	-1.77	4.0	4.0	0.46444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061536	0.64402	U	0.000003	D	0.89361	0.6693	M	0.79614	2.46	0.80722	D	1	D	0.61697	0.99	P	0.59056	0.851	D	0.91337	0.5094	10	0.72032	D	0.01	.	16.1641	0.81743	0.0:0.0:1.0:0.0	.	2108	Q75N90	FBN3_HUMAN	C	2108;214	ENSP00000270509:R2108C	ENSP00000270509:R2108C	R	-	1	0	FBN3	8060483	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.207000	0.95064	1.781000	0.52344	0.449000	0.29647	CGC		0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8154483	G	A	8154483	3	1	81	1	0	0	0	0	1	0	0	0	5704	1116	39	2	2163	2	FBN3	19	8154483	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	1393779	8154483	50974500	68	5517											
DDX49	54555	broad.mit.edu	37	chr19	19030579	19030579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgcggagctcgggctgtCatcgtggctcgtggaacaat	6	10	14	11	5	1	0	1	0	0	0	5	2	1	2	0	4	2	3	0	4	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:19030579C>T	ENST00000247003.4	+	1	96	c.29C>T	c.(28-30)tCa>tTa	p.S10L	DDX49_ENST00000438170.2_5'UTR|COPE_ENST00000349893.4_5'Flank|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000351079.4_5'Flank|COPE_ENST00000262812.4_5'Flank|COPE_ENST00000600932.1_5'Flank	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	10							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTCGGGCTGTCATCGTGGCTC	0.677																																						uc002nkq.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18						c.(28-30)tCa>tTa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.							32	34	33					19																	19030579		2202	4297	6499	SO:0001583	missense	54555						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr19:19030579C>T		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"DEAD-boxes"	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.29C>T	19.37:g.19030579C>T	ENSP00000247003:p.Ser10Leu					COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank	p.S10L	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Epithelial(12;0.0289)		0	96	+			10					E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	c.29C>T	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956253	0.53293	.	.	ENSG00000105671	ENST00000247003	T	0.25912	1.77	5.48	5.48	0.80851	RNA helicase, DEAD-box type, Q motif (1);	0.126265	0.53938	D	0.000041	T	0.33760	0.0874	M	0.72479	2.2	0.80722	D	1	B	0.23591	0.088	B	0.26202	0.067	T	0.07673	-1.0760	10	0.39692	T	0.17	-11.5307	17.8898	0.88867	0.0:1.0:0.0:0.0	.	10	Q9Y6V7	DDX49_HUMAN	L	10	ENSP00000247003:S10L	ENSP00000247003:S10L	S	+	2	0	DDX49	18891579	1.000000	0.71417	0.948000	0.38648	0.055000	0.15305	6.474000	0.73578	2.575000	0.86900	0.462000	0.41574	TCA		0.677	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070		T	19030579	C	T	19030579	3	4	81	1	0	0	0	0	1	0	0	0	4366	838	29	3	31	3	DDX49	19	19030579	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	10876096	19030579	40098404	69	5518											
TSHZ3	57616	broad.mit.edu	37	chr19	31767726	31767726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactctaggtgactgatGtacgtggaaggagtcctgat	9	12	14	6	1	1	4	0	4	1	0	2	6	2	6	1	3	1	1	1	3	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:31767726G>A	ENST00000240587.4	-	2	3300	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	991					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGACTGATGTACGTGGAAG	0.488																																						uc002nsy.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2971-2973)taC>taT		Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.							113	99	104					19																	31767726		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767726G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2973C>T	19.37:g.31767726G>A							p.Y991Y	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			1	3038	-	Esophageal squamous(110;0.226)		991					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2973C>T	CCDS12421.2																																																																																				0.488	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31767726	G	A	31767726	2	1	81	1	0	0	0	0	0	0	0	1	16622	1372	48	3		3	TSHZ3	19	31767726	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	12737147	31767726	27361257	70	5519											
VASP	7408	broad.mit.edu	37	chr19	46027874	46027874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgagacccaaccctgcAcgcccagctccagtgattac	9	7	7	18	2	0	2	0	1	0	1	2	3	2	2	5	0	4	2	5	0	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:46027874A>G	ENST00000245932.6	+	11	1359	c.1003A>G	c.(1003-1005)Acg>Gcg	p.T335A		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	335	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCAACCCTGCACGCCCAGCTC	0.562																																						uc002pcg.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18						c.(1003-1005)Acg>Gcg		Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.							101	90	94					19																	46027874		2203	4300	6503	SO:0001583	missense	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46027874A>G		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.1003A>G	19.37:g.46027874A>G	ENSP00000245932:p.Thr335Ala					VASP_uc002pci.3_Missense_Mutation_p.T321A	p.T335A	NM_003370	NP_003361	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	10	1345	+		Ovarian(192;0.051)|all_neural(266;0.112)	335			EVH2.		B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	c.1003A>G	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	A	3.571	-0.087664	0.07097	.	.	ENSG00000125753	ENST00000245932	T	0.69435	-0.4	5.0	1.66	0.24008	.	0.482622	0.20202	N	0.097069	T	0.42063	0.1186	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	10	0.08837	T	0.75	-0.4514	4.4064	0.11411	0.6552:0.1684:0.1763:0.0	.	335	P50552	VASP_HUMAN	A	335	ENSP00000245932:T335A	ENSP00000245932:T335A	T	+	1	0	VASP	50719714	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	0.347000	0.20014	0.034000	0.15491	0.459000	0.35465	ACG		0.562	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			G	46027874	A	G	46027874	3	3	81	1	0	0	0	0	1	0	0	0	17125	159	6	4	1045	4	VASP	19	46027874	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	14260148	46027874	13101109	71	5520											
CSE1L	1434	broad.mit.edu	37	chr20	47688965	47688965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatttactagttacaaCgggtcaagaggttaaatatg	14	12	10	5	1	1	1	1	0	0	1	1	2	1	2	0	3	3	2	0	3	9	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:47688965C>T	ENST00000262982.2	+	9	1034	c.911C>T	c.(910-912)aCg>aTg	p.T304M	CSE1L_ENST00000542325.1_Missense_Mutation_p.T87M|CSE1L_ENST00000396192.3_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	304					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTAGTTACAACGGGTCAAGAG	0.383																																						uc002xty.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(910-912)aCg>aTg		Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.							121	116	118					20																	47688965		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47688965C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.911C>T	20.37:g.47688965C>T	ENSP00000262982:p.Thr304Met					CSE1L_uc010zyg.2_Missense_Mutation_p.T87M|CSE1L_uc010ghx.3_Intron|CSE1L_uc010ghy.3_5'UTR|CSE1L_uc010zyh.2_5'Flank	p.T304M	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		8	1045	+			304					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.911C>T	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973411	0.92919	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325	T;T	0.67523	-0.27;-0.27	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78807	-0.2059	10	0.39692	T	0.17	-16.1171	19.8195	0.96586	0.0:1.0:0.0:0.0	.	87;304	B4DUC5;P55060	.;XPO2_HUMAN	M	70;304;87	ENSP00000262982:T304M;ENSP00000446477:T87M	ENSP00000262982:T304M	T	+	2	0	CSE1L	47122372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.756000	0.94617	0.655000	0.94253	ACG		0.383	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		T	47688965	C	T	47688965	3	4	81	1	0	0	0	0	1	0	0	0	3930	536	19	1	941	1	CSE1L	20	47688965	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		47688965	15336555	72	5521											
UCKL1	54963	broad.mit.edu	37	chr20	62571796	62571796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagtccatgaggatcaCgtggtcatcgctgatgtcct	7	11	13	10	2	2	2	2	2	0	0	5	3	4	3	2	3	1	2	2	3	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:62571796C>T	ENST00000354216.6	-	13	1387	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369908.5_Missense_Mutation_p.V434M|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369892.3_Missense_Mutation_p.V449M|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	449					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGAGGATCACGTGGTCATCG	0.677																																						uc010gkn.3																			0		p.H448Q(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1345-1347)Gtg>Atg		Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.							49	45	46					20																	62571796		2193	4297	6490	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571796C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1345G>A	20.37:g.62571796C>T	ENSP00000346155:p.Val449Met					UCKL1_uc011abm.2_Missense_Mutation_p.V434M|UCKL1_uc011abn.2_Non-coding_Transcript	p.V449M	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			12	1420	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		449					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.1345G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920335	0.92249	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908;ENST00000430743	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.958	D	0.91947	0.5568	9	0.87932	D	0	-35.1741	17.2965	0.87171	0.0:1.0:0.0:0.0	.	434;449	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	M	449;449;434;114	.	ENSP00000346155:V449M	V	-	1	0	UCKL1	62042240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.153000	0.50685	2.081000	0.62600	0.591000	0.81541	GTG		0.677	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		T	62571796	C	T	62571796	3	4	81	1	0	0	0	0	1	0	0	0	16922	536	19	1	313	1	UCKL1	20	62571796	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	14882831	62571796	453724	73	5522											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993777	45993777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcccccagctgctgcGccccggccccctgcctgagc	2	5	12	22	3	0	1	0	1	0	0	0	1	0	1	7	1	6	3	7	1	0	0	rs201736033		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr21:45993777G>A	ENST00000400374.3	+	1	172	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	48	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGCTGCTGCGCCCCGGCCCC	0.701																																						uc002zfk.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(142-144)Gcc>Acc		Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.		G	,THR/ALA	5,3807		0,5,1901	15	20	18		,142	3.5	0.6	21		18	2,8218		0,2,4108	no	intron,missense	TSPEAR,KRTAP10-4	NM_144991.2,NM_198687.1	,58	0,7,6009	AA,AG,GG		0.0243,0.1312,0.0582	,benign	,48/402	45993777	7,12025	1906	4110	6016	SO:0001583	missense	386672					keratin filament		g.chr21:45993777G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.142G>A	21.37:g.45993777G>A	ENSP00000383225:p.Ala48Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A48T	NM_198687	NP_941960	P60372	KR104_HUMAN			0	172	+			48			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.142G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	7.748	0.702667	0.15172	0.001312	2.43E-4	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.04654	3.58	3.52	3.52	0.40303	.	.	.	.	.	T	0.02929	0.0087	N	0.21097	0.63	0.25613	N	0.98649	P	0.39250	0.665	B	0.23852	0.049	T	0.44544	-0.9321	9	0.25751	T	0.34	.	10.8646	0.46847	0.0:0.0:1.0:0.0	.	48	P60372	KR104_HUMAN	T	48;37	ENSP00000383225:A48T	ENSP00000333987:A37T	A	+	1	0	KRTAP10-4	44818205	0.000000	0.05858	0.554000	0.28268	0.300000	0.27592	-0.721000	0.04963	1.669000	0.50854	0.484000	0.47621	GCC		0.701	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		A	45993777	G	A	45993777	3	1	81	1	0	0	0	0	1	0	0	0	8511	1087	38	1	144	1	KRTAP10-4	21	45993777	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		45993777	2136118	74	5523											
BPIL2	254240	broad.mit.edu	37	chr22	32829708	32829708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctgagcacttacccGggagagcacgttgccaaggc	11	5	11	14	2	0	2	0	1	0	1	0	3	0	2	3	2	5	3	3	2	3	2	rs371535232		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:32829708G>A	ENST00000397452.1	-	10	1086	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	BPIFC_ENST00000534972.1_Missense_Mutation_p.R50W|BPIFC_ENST00000432451.2_Missense_Mutation_p.R140W|BPIFC_ENST00000300399.3_Missense_Mutation_p.R326W			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	326						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.R326W(1)									GCACTTACCCGGGAGAGCACG	0.418																																						uc003amn.2																			1	Substitution - Missense(1)	p.R326W(1)	large_intestine(1)								c.(976-978)Cgg>Tgg		Homo sapiens BPI fold containing family C (BPIFC), mRNA.		G	TRP/ARG	0,4406		0,0,2203	99	93	95		976	1.2	0.9	22		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFC	NM_174932.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	326/508	32829708	1,13005	2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32829708G>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.976C>T	22.37:g.32829708G>A	ENSP00000380594:p.Arg326Trp					BPIFC_uc010gwo.2_Missense_Mutation_p.R140W|BPIFC_uc011amb.1_Missense_Mutation_p.R50W	p.R326W	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			8	976	-			326					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.976C>T	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511912	0.44660	0.0	1.16E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.75	1.23	0.21249	.	0.510840	0.21369	N	0.075663	T	0.06781	0.0173	L	0.44542	1.39	0.27177	N	0.960751	B;B	0.20780	0.048;0.038	B;B	0.15052	0.012;0.008	T	0.25012	-1.0144	10	0.62326	D	0.03	-0.2263	4.6379	0.12534	0.1646:0.0:0.5195:0.3159	.	140;326	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	W	326;326;50;140	ENSP00000380594:R326W;ENSP00000300399:R326W;ENSP00000439123:R50W;ENSP00000408920:R140W	ENSP00000300399:R326W	R	-	1	2	BPIFC	31159708	1.000000	0.71417	0.854000	0.33618	0.912000	0.54170	0.880000	0.28159	0.057000	0.16193	0.655000	0.94253	CGG		0.418	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		A	32829708	G	A	32829708	3	1	81	1	0	0	0	0	1	0	0	0	1492	1115	39	2	575	2	BPIL2	22	32829708	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		32829708	18474858	75	5524											
CACNA1I	8911	broad.mit.edu	37	chr22	40080363	40080363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgcccatgccagccGagttcttccaccctgcagtg	5	10	8	18	1	2	0	0	0	2	0	4	1	3	0	6	0	4	2	6	0	0	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:40080363G>T	ENST00000402142.3	+	36	5887	c.5887G>T	c.(5887-5889)Gag>Tag	p.E1963*	CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.E1963*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.E1928*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.E1928*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.E1928*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.E1969*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1963					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CATGCCAGCCGAGTTCTTCCA	0.637																																						uc003ayc.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5887-5889)Gag>Tag		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						40	46	44					22																	40080363		2014	4168	6182	SO:0001587	stop_gained	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40080363G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5887G>T	22.37:g.40080363G>T	ENSP00000385019:p.Glu1963*					CACNA1I_uc003ayd.3_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.E1843*	p.E1963*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			35	5887	+	Melanoma(58;0.0749)		1963					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Nonsense_Mutation	SNP	ENST00000402142.3	37	c.5887G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	45	11.423831	0.99559	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.05	5.05	0.67936	.	13.549800	0.00520	N	0.000189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	.	.	.	X	1963;1928;1963;1928;1969;1928	.	ENSP00000337829:E1969X	E	+	1	0	CACNA1I	38410309	1.000000	0.71417	0.944000	0.38274	0.837000	0.47467	7.182000	0.77689	2.334000	0.79466	0.561000	0.74099	GAG		0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		T	40080363	G	T	40080363	4	4	81	1	0	0	0	0	0	1	0	0	2546	1059	37	5	6029	5	CACNA1I	22	40080363	Nonsense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7250655	40080363	11224203	76	5525											
CSDC2	27254	broad.mit.edu	37	chr22	41969718	41969718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaagcagttctcacgctCacagggccatggcttcatca	9	10	9	13	1	4	0	4	0	1	0	5	0	4	0	1	2	1	5	1	2	1	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:41969718C>T	ENST00000306149.7	+	3	780	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	79	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						TTCTCACGCTCACAGGGCCAT	0.612																																					NSCLC(181;294 2110 12667 14717 31090)	uc003bak.1																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(235-237)tCa>tTa		Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.							133	111	118					22																	41969718		2203	4300	6503	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969718C>T	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.236C>T	22.37:g.41969718C>T	ENSP00000302485:p.Ser79Leu						p.S79L	NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN			2	533	+			79			CSD.		Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.236C>T	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742553	0.96873	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.24	5.24	0.73138	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.86696	0.1926	9	0.72032	D	0.01	.	18.448	0.90693	0.0:1.0:0.0:0.0	.	79	Q9Y534	CSDC2_HUMAN	L	79;62	.	ENSP00000302485:S79L	S	+	2	0	CSDC2	40299664	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	7.738000	0.84966	2.451000	0.82905	0.555000	0.69702	TCA		0.612	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		T	41969718	C	T	41969718	3	4	81	1	0	0	0	0	1	0	0	0	3928	838	29	3	242	3	CSDC2	22	41969718	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	1889355	41969718	9334848	77	5526											
P2RY8	286530	broad.mit.edu	37	chrX	1584460	1584460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggagcgcacggacGtggtcctggcggagaagagg	7	4	19	11	6	0	2	0	0	0	2	2	5	1	4	2	7	1	1	2	7	1	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:1584460G>A	ENST00000381297.4	-	2	1202	c.992C>T	c.(991-993)aCg>aTg	p.T331M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"B-ALL, Downs associated ALL"																																	uc022brv.1				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(991-993)aCg>aTg		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							46	54	52					X																	1584460		2203	4295	6498	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584460G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.992C>T	X.37:g.1584460G>A	ENSP00000370697:p.Thr331Met					CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T331M	p.T331M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	992	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	331						Missense_Mutation	SNP	ENST00000381297.4	37	c.992C>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	5.572	0.290411	0.10567	.	.	ENSG00000182162	ENST00000381297	T	0.63096	-0.02	2.73	1.54	0.23209	.	1.173220	0.06864	U	0.799724	T	0.40498	0.1119	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.26467	-1.0102	10	0.44086	T	0.13	.	6.1963	0.20552	0.8613:0.0:0.1387:0.0	.	331	Q86VZ1	P2RY8_HUMAN	M	331	ENSP00000370697:T331M	ENSP00000370697:T331M	T	-	2	0	P2RY8	1544460	0.961000	0.32948	0.001000	0.08648	0.421000	0.31385	2.068000	0.41471	0.007000	0.14760	0.279000	0.19357	ACG		0.701	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		A	1584460	G	A	1584460	3	1	81	1	0	0	0	0	1	0	0	0	11355	1145	40	1	91	1	P2RY8	23	1584460	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		1584460	153686100	78	5527											
RGAG1	57529	broad.mit.edu	37	chrX	109694900	109694900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccccagcactaatgaCggccctaccctctggagtga	10	8	9	14	1	1	2	0	2	1	0	2	3	2	3	4	2	2	1	4	2	3	2	rs200006075		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:109694900C>T	ENST00000465301.2	+	3	1301	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	RGAG1_ENST00000540313.1_Missense_Mutation_p.T352M	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	352										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCACTAATGACGGCCCTACCC	0.537																																						uc004eor.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1054-1056)aCg>aTg		Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.		C	MET/THR	0,3835		0,0,1632,571	222	211	215		1055	-0.5	0	X		215	2,6726		0,2,2426,1872	yes	missense	RGAG1	NM_020769.2	81	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	benign	352/1389	109694900	2,10561	2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694900C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1055C>T	X.37:g.109694900C>T	ENSP00000419786:p.Thr352Met					RGAG1_uc011msr.1_Missense_Mutation_p.T352M	p.T352M	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			2	1301	+			352					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1055C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	6.315	0.426167	0.11987	0.0	2.97E-4	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.46063	0.88;0.88	4.42	-0.488	0.12056	.	0.767535	0.10741	N	0.639456	T	0.16811	0.0404	N	0.11560	0.145	0.09310	N	1	B	0.30281	0.275	B	0.15870	0.014	T	0.16482	-1.0401	9	.	.	.	0.0112	4.5108	0.11910	0.1602:0.3337:0.0:0.5061	.	352	Q8NET4	RGAG1_HUMAN	M	352	ENSP00000419786:T352M;ENSP00000441452:T352M	.	T	+	2	0	RGAG1	109581556	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.000000	0.12993	-0.265000	0.09352	-0.190000	0.12839	ACG		0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		T	109694900	C	T	109694900	3	4	81	1	0	0	0	0	1	0	0	0	13274	536	19	1	1057	1	RGAG1	23	109694900	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	108110440	109694900	45575660	79	5528											
KIAA0562	9731	broad.mit.edu	37	chr1	3756341	3756341	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagatatagtcagatttcCtaaagggaagaaatgcatat	17	10	10	4	0	1	3	1	0	0	3	2	6	2	4	1	1	1	1	1	1	7	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:3756341C>T	ENST00000378230.3	-	7	891		c.e7-1		CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa							centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTCAGATTTCCTAAAGGGAAG	0.423																																						uc001aky.2																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.e7-1		Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.							102	100	101					1																	3756341		2203	4300	6503	SO:0001630	splice_region_variant	9731					centriole	binding	g.chr1:3756341C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.567-1G>A	1.37:g.3756341C>T						CEP104_uc010nzm.1_Splice_Site|CEP104_uc001akz.3_Splice_Site_p.R189_splice	p.R189_splice	NM_014704	NP_055519	O60308	CE104_HUMAN			7	926	-			189					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Splice_Site	SNP	ENST00000378230.3	37	c.567_splice	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694320	0.30052	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.145	0.86764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP104	3746201	1.000000	0.71417	0.575000	0.28536	0.414000	0.31173	6.552000	0.73914	2.286000	0.76751	0.313000	0.20887	.		0.423	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	Intron	T	3756341	C	T	3756341	5	4	82	1	0	0	0	0	0	0	1	0	8184	695	24	3	2275	3	KIAA0562	1	3756341	Splice_Site	SNP	C	TCGA-06-2565-01A-01D-1494-08		3756341	245494280	1	5529											
LRRC40	55631	broad.mit.edu	37	chr1	70611582	70611582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggatttccatccagtagTaatgttctaaacaaaagaga	17	11	7	6	0	1	1	0	0	1	1	3	3	3	2	2	1	1	3	2	1	7	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:70611582T>C	ENST00000370952.3	-	15	1789	c.1710A>G	c.(1708-1710)ttA>ttG	p.L570L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	570						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CATCCAGTAGTAATGTTCTAA	0.313																																						uc001der.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(1708-1710)ttA>ttG		Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.							63	61	62					1																	70611582		2203	4300	6503	SO:0001819	synonymous_variant	55631							g.chr1:70611582T>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1710A>G	1.37:g.70611582T>C							p.L570L	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			14	1848	-			570					Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	c.1710A>G	CCDS646.1																																																																																				0.313	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		C	70611582	T	C	70611582	2	2	82	1	0	0	0	0	0	0	0	1	8998	1635	57	4		4	LRRC40	1	70611582	Silent	SNP	T	TCGA-06-2565-01A-01D-1494-08	66855241	70611582	178639039	2	5530											
IQGAP3	128239	broad.mit.edu	37	chr1	156497822	156497822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcctgcctcatctccCggcgtgatgtcaaagatgac	9	11	8	13	2	3	3	2	2	1	1	5	3	4	3	3	1	2	0	3	1	2	1	rs144640189		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:156497822C>T	ENST00000361170.2	-	37	4714	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1568					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCATCTCCCGGCGTGATGT	0.512													C|||	1	0.000199681	0	0.0014	5008	,	,		22534	0		0	False		,,,				2504	0					uc001fpf.3																			0		p.T1567T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4702-4704)ccG>ccA		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	157	138	145		4704	-1.5	0.9	1	dbSNP_134	145	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	IQGAP3	NM_178229.4		0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769		1568/1632	156497822	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156497822C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4704G>A	1.37:g.156497822C>T							p.P1568P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			36	4779	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1568					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4704G>A	CCDS1144.1																																																																																				0.512	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156497822	C	T	156497822	2	4	82	1	0	0	0	0	0	0	0	1	7816	639	23	2		2	IQGAP3	1	156497822	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	85886240	156497822	92752799	3	5531											
SELP	6403	broad.mit.edu	37	chr1	169562878	169562878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttagcaaagccaggAgcgtcccacccattatcaga	11	9	8	13	1	2	1	1	0	1	1	3	2	3	2	3	1	3	2	3	1	3	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:169562878A>G	ENST00000263686.6	-	14	2409	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	SELP_ENST00000367793.2_Missense_Mutation_p.L729P|SELP_ENST00000367786.2_Missense_Mutation_p.L729P|SELP_ENST00000367791.2_Missense_Mutation_p.L605P|SELP_ENST00000367788.2_Missense_Mutation_p.L729P|SELP_ENST00000367792.2_Missense_Mutation_p.L607P|SELP_ENST00000458599.2_Missense_Mutation_p.L607P|SELP_ENST00000367794.2_Missense_Mutation_p.L729P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	791					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAAAGCCAGGAGCGTCCCACC	0.413																																						uc001ggi.4																			0		p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2371-2373)cTc>cCc		Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						74	72	73					1																	169562878		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562878A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2372T>C	1.37:g.169562878A>G	ENSP00000263686:p.Leu791Pro					SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.L790P	p.L791P	NM_003005	NP_002996	P16109	LYAM3_HUMAN			13	2437	-	all_hematologic(923;0.208)		791					Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.2372T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853158	0.71719	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.31769	2.03;1.86;1.58;1.48;1.72;1.86;1.58	5.62	5.62	0.85841	.	0.122427	0.37261	N	0.002163	T	0.43700	0.1259	M	0.67953	2.075	0.44976	D	0.997992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.48186	-0.9057	10	0.87932	D	0	-22.7444	12.2176	0.54414	1.0:0.0:0.0:0.0	.	790;791	Q6NUL9;P16109	.;LYAM3_HUMAN	P	605;791;790;607;791;729;729;607;605;729;729;714	ENSP00000263686:L791P;ENSP00000356767:L729P;ENSP00000356768:L729P;ENSP00000356766:L607P;ENSP00000356765:L605P;ENSP00000356762:L729P;ENSP00000356760:L729P	ENSP00000263686:L791P	L	-	2	0	SELP	167829502	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	4.397000	0.59690	2.133000	0.65898	0.528000	0.53228	CTC		0.413	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		G	169562878	A	G	169562878	3	3	82	1	0	0	0	0	1	0	0	0	14019	304	11	4	132	4	SELP	1	169562878	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	13065056	169562878	79687743	4	5532											
CRB1	23418	broad.mit.edu	37	chr1	197407699	197407699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattaccctcaacaGtctgtgggaatgagaagaca	15	7	11	8	0	2	4	1	1	1	4	2	6	2	5	1	1	3	1	1	1	4	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:197407699G>A	ENST00000367400.3	+	10	3907	c.3772G>A	c.(3772-3774)Gtc>Atc	p.V1258I	CRB1_ENST00000535699.1_Missense_Mutation_p.V1234I|CRB1_ENST00000544212.1_Missense_Mutation_p.V739I|CRB1_ENST00000538660.1_Missense_Mutation_p.V722I|CRB1_ENST00000367399.2_Missense_Mutation_p.V1146I|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.V639I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1258	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCCTCAACAGTCTGTGGGAA	0.413																																						uc001gtz.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(3772-3774)Gtc>Atc		Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.							95	90	92					1																	197407699		2203	4299	6502	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197407699G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3772G>A	1.37:g.197407699G>A	ENSP00000356370:p.Val1258Ile					CRB1_uc010poz.2_Missense_Mutation_p.V1234I|CRB1_uc009wza.3_Missense_Mutation_p.V1146I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.V722I|CRB1_uc010ppd.2_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	p.V1258I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3981	+			1258			EGF-like 18.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3772G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264294	0.39995	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;D;T;D;D;D	0.86956	1.37;-2.11;1.37;-2.19;-2.05;-2.03	6.17	5.21	0.72293	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81706	0.4879	L	0.42744	1.35	0.43263	D	0.995203	B;P;P;B;P	0.43352	0.162;0.804;0.571;0.25;0.561	B;B;B;B;B	0.41510	0.025;0.279;0.359;0.056;0.118	T	0.77635	-0.2514	9	0.27082	T	0.32	.	9.7646	0.40552	0.0689:0.0:0.79:0.1411	.	722;1234;1146;907;1258	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	I	1234;722;1258;1146;739;639;907	ENSP00000438786:V1234I;ENSP00000438091:V722I;ENSP00000356370:V1258I;ENSP00000356369:V1146I;ENSP00000444556:V739I;ENSP00000356367:V639I	ENSP00000356367:V639I	V	+	1	0	CRB1	195674322	0.951000	0.32395	0.912000	0.35992	0.903000	0.53119	1.592000	0.36676	2.941000	0.99782	0.655000	0.94253	GTC		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		A	197407699	G	A	197407699	3	1	82	1	0	0	0	0	1	0	0	0	3848	1029	36	3	3810	3	CRB1	1	197407699	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	27844821	197407699	51842922	5	5533											
CACNA1S	779	broad.mit.edu	37	chr1	201028369	201028369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagggtgaagatgataGtgaaggccacattgaggatg	12	9	14	6	0	1	5	0	4	1	1	2	6	1	6	2	3	0	0	2	3	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:201028369G>A	ENST00000362061.3	-	27	3699	c.3473C>T	c.(3472-3474)aCt>aTt	p.T1158I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T1158I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1158					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGATGATAGTGAAGGCCAC	0.597																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3472-3474)aCt>aTt		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						167	141	150					1																	201028369		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201028369G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3473C>T	1.37:g.201028369G>A	ENSP00000355192:p.Thr1158Ile						p.T1158I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			26	3700	-			1158					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3473C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482039	0.84747	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98666	-5.06;-5.06	4.47	4.47	0.54385	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99616	1.0982	10	0.87932	D	0	.	17.0792	0.86594	0.0:0.0:1.0:0.0	.	1158	Q13698	CAC1S_HUMAN	I	1158	ENSP00000355192:T1158I;ENSP00000356307:T1158I	ENSP00000355192:T1158I	T	-	2	0	CACNA1S	199294992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.834000	0.99428	2.170000	0.68504	0.650000	0.86243	ACT		0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201028369	G	A	201028369	3	1	82	1	0	0	0	0	1	0	0	0	2547	1029	36	3	2220	3	CACNA1S	1	201028369	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	3620670	201028369	48222252	6	5534											
OBSCN	84033	broad.mit.edu	37	chr1	228473808	228473808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcacatcatcgaggacctgGaggatgtggatgtgcaggag	10	8	16	7	1	1	0	1	0	0	0	2	6	1	5	1	5	2	2	1	5	0	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:228473808G>A	ENST00000422127.1	+	34	9078	c.9034G>A	c.(9034-9036)Gag>Aag	p.E3012K	OBSCN_ENST00000366709.4_Missense_Mutation_p.E131K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E131K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3012K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E3441K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1859K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3012	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGACCTGGAGGATGTGGA	0.647																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(9034-9036)Gag>Aag		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							29	36	33					1																	228473808		2083	4207	6290	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228473808G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9034G>A	1.37:g.228473808G>A	ENSP00000409493:p.Glu3012Lys					OBSCN_uc001hsn.3_Missense_Mutation_p.E3012K|OBSCN_uc001hsq.1_Missense_Mutation_p.E268K	p.E3012K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			33	9078	+		Prostate(94;0.0405)	3012			Ig-like 30.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9034G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019115	0.93462	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.67	2.75	0.32379	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.218453	0.36034	N	0.002840	T	0.60418	0.2267	L	0.42529	1.33	0.34385	D	0.69351	B;D	0.59357	0.103;0.985	B;P	0.59703	0.113;0.862	T	0.63088	-0.6715	10	0.06365	T	0.9	.	8.6363	0.33950	0.138:0.1253:0.7367:0.0	.	3012;3012	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	3012;3012;131;131;1859	ENSP00000284548:E3012K;ENSP00000409493:E3012K;ENSP00000355668:E131K;ENSP00000355670:E131K;ENSP00000352613:E1859K	ENSP00000284548:E3012K	E	+	1	0	OBSCN	226540431	1.000000	0.71417	0.995000	0.50966	0.757000	0.42996	5.290000	0.65661	0.319000	0.23209	0.561000	0.74099	GAG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228473808	G	A	228473808	3	1	82	1	0	0	0	0	1	0	0	0	10812	1175	41	3	9164	3	OBSCN	1	228473808	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	27445439	228473808	20776813	7	5535											
TRIM58	25893	broad.mit.edu	37	chr1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaaatgcagaggcagCgcttcagattggagtttgag	12	9	15	5	1	1	3	1	1	0	2	1	5	1	5	0	3	2	4	0	3	2	3	rs368652011		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592																																						uc001ido.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(541-543)Cgc>Tgc		Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.							78	58	64					1																	248028031		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028031C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.541C>T	1.37:g.248028031C>T	ENSP00000355437:p.Arg181Cys						p.R181C	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	589	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	181					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.541C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485560	0.44147	.	.	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.24	0.21308	.	0.622326	0.13793	N	0.362392	T	0.16642	0.0400	M	0.87381	2.88	0.21064	N	0.999799	D	0.76494	0.999	P	0.59357	0.856	T	0.06734	-1.0810	10	0.87932	D	0	.	5.1798	0.15154	0.1643:0.6499:0.0:0.1859	.	181	Q8NG06	TRI58_HUMAN	C	181	ENSP00000355437:R181C	ENSP00000355437:R181C	R	+	1	0	TRIM58	246094654	0.058000	0.20735	0.183000	0.23137	0.620000	0.37586	0.582000	0.23834	0.158000	0.19367	-0.140000	0.14226	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248028031	C	T	248028031	3	4	82	1	0	0	0	0	1	0	0	0	16528	768	27	1	551	1	TRIM58	1	248028031	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	19554223	248028031	1222590	8	5536											
GALNT14	79623	broad.mit.edu	37	chr2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagagtggtgccctgggCgatgtcagcgccccgaatcc	7	7	14	13	3	2	1	2	0	0	1	3	3	3	1	4	2	2	0	4	2	1	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:31178570C>T	ENST00000349752.5	-	6	1207	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	GALNT14_ENST00000356174.3_Missense_Mutation_p.A157T|GALNT14_ENST00000420311.2_Missense_Mutation_p.A155T|GALNT14_ENST00000406653.1_Missense_Mutation_p.A170T|GALNT14_ENST00000324589.5_Missense_Mutation_p.A195T|GALNT14_ENST00000486564.1_5'Flank	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	190	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTGCCCTGGGCGATGTCAGCG	0.597																																						uc002rns.3																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(583-585)Gcc>Acc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.							59	57	58					2																	31178570		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178570C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.568G>A	2.37:g.31178570C>T	ENSP00000288988:p.Ala190Thr					GALNT14_uc002rnq.3_Missense_Mutation_p.A170T|GALNT14_uc010ymr.2_Missense_Mutation_p.A155T|GALNT14_uc002rnr.3_Missense_Mutation_p.A190T|GALNT14_uc010ezo.2_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	p.A195T	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN			6	1223	-	Acute lymphoblastic leukemia(172;0.155)		190			Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.583G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491874	0.64074	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.61	4.74	0.60224	Glycosyl transferase, family 2 (1);	0.050238	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.998;0.998;0.999;0.998;0.999	D	0.91683	0.5360	10	0.66056	D	0.02	.	16.1182	0.81324	0.1348:0.8652:0.0:0.0	.	155;155;157;195;190;170	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	T	190;195;170;157;155;157	ENSP00000288988:A190T;ENSP00000314500:A195T;ENSP00000385435:A170T;ENSP00000348497:A157T;ENSP00000415514:A155T;ENSP00000406399:A157T	ENSP00000314500:A195T	A	-	1	0	GALNT14	31032074	1.000000	0.71417	0.161000	0.22692	0.009000	0.06853	4.536000	0.60636	1.395000	0.46643	-0.226000	0.12346	GCC		0.597	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		T	31178570	C	T	31178570	3	4	82	1	0	0	0	0	1	0	0	0	6212	768	27	1	1130	1	GALNT14	2	31178570	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		31178570	212020803	9	5537											
LTBP1	4052	broad.mit.edu	37	chr2	33482448	33482448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtaggtaaaggacctgtAtttgtcaagccaaagaacac	15	9	9	8	0	1	1	1	0	0	1	1	2	1	2	2	2	2	3	2	2	7	4	rs371560954		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:33482448A>G	ENST00000404816.2	+	12	2618	c.2265A>G	c.(2263-2265)gtA>gtG	p.V755V	LTBP1_ENST00000390003.4_Silent_p.V429V|LTBP1_ENST00000354476.3_Silent_p.V755V|LTBP1_ENST00000418533.2_Silent_p.V429V|LTBP1_ENST00000407925.1_Silent_p.V429V|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	755					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGACCTGTATTTGTCAAGC	0.502													A|||	1	0.000199681	8e-04	0	5008	,	,		17607	0		0	False		,,,				2504	0					uc021vft.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2263-2265)gtA>gtG		Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.		A	,,,,	2,4404	4.2+/-10.8	0,2,2201	125	108	114		1287,1287,,,2265	2	1	2		114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	,,,,	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	,,,,	429/1396,429/1354,,,755/1722	33482448	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33482448A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2265A>G	2.37:g.33482448A>G						LTBP1_uc002rou.3_Silent_p.V429V|LTBP1_uc002rov.3_Intron|LTBP1_uc010ymz.2_Silent_p.V429V|LTBP1_uc010yna.2_Intron	p.V755V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			11	2288	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	755					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.2265A>G	CCDS33177.2																																																																																				0.502	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		G	33482448	A	G	33482448	2	3	82	1	0	0	0	0	0	0	0	1	9073	436	16	4		4	LTBP1	2	33482448	Silent	SNP	A	TCGA-06-2565-01A-01D-1494-08	2303878	33482448	209716925	10	5538											
ZAP70	7535	broad.mit.edu	37	chr2	98351132	98351132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacattgaacttggctgcGgcaactttggctcagtgcgc	7	11	12	11	2	1	2	1	2	0	0	1	2	1	2	0	3	4	3	0	3	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:98351132G>A	ENST00000264972.5	+	9	1254	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ZAP70_ENST00000442208.1_Missense_Mutation_p.G221S|ZAP70_ENST00000451498.2_Missense_Mutation_p.G40S|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACTTGGCTGCGGCAACTTTGG	0.622																																						uc002syd.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1039-1041)Ggc>Agc		Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.							149	125	133					2																	98351132		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351132G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1039G>A	2.37:g.98351132G>A	ENSP00000264972:p.Gly347Ser					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	p.G347S	NM_001079	NP_997402	P43403	ZAP70_HUMAN			8	1246	+			347			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1039G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480383	0.96307	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.94793	-3.52;-3.52;-3.52	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000098	D	0.98223	0.9412	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99226	1.0880	10	0.87932	D	0	.	17.0749	0.86583	0.0:0.0:1.0:0.0	.	221;347	P43403-3;P43403	.;ZAP70_HUMAN	S	347;221;40	ENSP00000264972:G347S;ENSP00000411141:G221S;ENSP00000400475:G40S	ENSP00000264972:G347S	G	+	1	0	ZAP70	97717564	1.000000	0.71417	0.977000	0.42913	0.939000	0.58152	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GGC		0.622	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98351132	G	A	98351132	3	1	82	1	0	0	0	0	1	0	0	0	17511	1116	39	2	1065	2	ZAP70	2	98351132	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	64868684	98351132	144848241	11	5539											
GCC2	9648	broad.mit.edu	37	chr2	109092033	109092033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaggaggagaaaataaAtaagataaaattagttgccg	22	7	10	2	1	0	3	0	0	0	3	0	5	0	4	1	2	1	1	1	2	10	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:109092033A>G	ENST00000309863.6	+	8	3617	c.2903A>G	c.(2902-2904)aAt>aGt	p.N968S		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	968					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAAAATAAATAAGATAAAA	0.299																																						uc002tec.3																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2902-2904)aAt>aGt		Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.							19	22	21					2																	109092033		2174	4286	6460	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109092033A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2903A>G	2.37:g.109092033A>G	ENSP00000307939:p.Asn968Ser					GCC2_uc002ted.3_Missense_Mutation_p.N867S	p.N968S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			7	3057	+			968					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2903A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895255	0.33442	.	.	ENSG00000135968	ENST00000309863	T	0.32988	1.43	5.43	1.6	0.23607	.	0.261482	0.35349	N	0.003261	T	0.15392	0.0371	N	0.21583	0.68	0.33825	D	0.629578	B	0.15141	0.012	B	0.12837	0.008	T	0.29088	-1.0023	10	0.07813	T	0.8	.	8.015	0.30376	0.6585:0.0:0.3415:0.0	.	968	Q8IWJ2	GCC2_HUMAN	S	968	ENSP00000307939:N968S	ENSP00000307939:N968S	N	+	2	0	GCC2	108458465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.305000	0.43664	0.422000	0.26005	0.533000	0.62120	AAT		0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		G	109092033	A	G	109092033	3	3	82	1	0	0	0	0	1	0	0	0	6286	101	4	4	2933	4	GCC2	2	109092033	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	10740901	109092033	134107340	12	5540											
KIF5C	3800	broad.mit.edu	37	chr2	149866823	149866823	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtatcaaggaggccgtgCgggccaagaacatggccaga	12	5	14	10	3	1	2	1	0	0	2	2	3	1	3	3	4	2	1	3	4	4	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:149866823C>A	ENST00000435030.1	+	24	3093	c.2725C>A	c.(2725-2727)Cgg>Agg	p.R909R	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.R814R|KIF5C_ENST00000397413.1_Silent_p.R677R			O60282	KIF5C_HUMAN	kinesin family member 5C	909	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGCCGTGCGGGCCAAGAA	0.632																																						uc010zbu.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2725-2727)Cgg>Agg		Homo sapiens kinesin family member 5C (KIF5C), mRNA.							22	27	25					2																	149866823		2169	4287	6456	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149866823C>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2725C>A	2.37:g.149866823C>A						KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Silent_p.R191R	p.R909R	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	23	3120	+			909			Globular.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.2725C>A																																																																																					0.632	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		A	149866823	C	A	149866823	2	1	82	1	0	0	0	0	0	0	0	1	8307	759	27	5		5	KIF5C	2	149866823	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	40774790	149866823	93332550	13	5541											
ZNF860	344787	broad.mit.edu	37	chr3	32030908	32030908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagatattcatgactttGagtttcaatggcaagaagac	15	11	10	5	0	2	5	2	2	0	3	2	6	2	6	0	2	0	2	0	2	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:32030908G>C	ENST00000360311.4	+	2	886	c.337G>C	c.(337-339)Gag>Cag	p.E113Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TCATGACTTTGAGTTTCAATG	0.388																																						uc011axg.2																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(337-339)Gag>Cag		Homo sapiens zinc finger protein 860 (ZNF860), mRNA.							59	44	49					3																	32030908		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030908G>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.337G>C	3.37:g.32030908G>C	ENSP00000373274:p.Glu113Gln					ZNF860_uc021wuv.1_Missense_Mutation_p.E113Q	p.E113Q	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			1	886	+			113					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.337G>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.575135	0.13623	.	.	ENSG00000197385	ENST00000360311	T	0.05996	3.36	0.345	0.345	0.16011	.	.	.	.	.	T	0.05593	0.0147	L	0.57536	1.79	0.09310	N	1	P	0.41524	0.753	B	0.34722	0.188	T	0.33317	-0.9873	8	.	.	.	.	2.7629	0.05312	0.4128:0.0:0.5872:0.0	.	113	A6NHJ4	ZN860_HUMAN	Q	113	ENSP00000373274:E113Q	.	E	+	1	0	ZNF860	32005912	0.000000	0.05858	0.007000	0.13788	0.115000	0.19883	-0.624000	0.05540	0.392000	0.25172	0.393000	0.25936	GAG		0.388	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			C	32030908	G	C	32030908	3	2	82	1	0	0	0	0	1	0	0	0	18191	1291	45	5	339	5	ZNF860	3	32030908	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		32030908	165991522	14	5542											
SCN5A	6331	broad.mit.edu	37	chr3	38639416	38639416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtagcgctgggcgagaCggttccagcatggtggacac	8	7	16	10	3	1	1	1	0	0	1	2	3	2	2	1	5	2	4	1	5	1	2	rs199473145		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:38639416C>T	ENST00000333535.4	-	14	2215	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_ENST00000423572.2_Missense_Mutation_p.R689H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R689H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGGGCGAGACGGTTCCAGCA	0.537													C|||	1	0.000199681	0	0	5008	,	,		21358	0		0	False		,,,				2504	0.001					uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM057209	SCN5A	M		c.(2065-2067)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4276		0,0,2138	119	123	122		2066,2066,2066,2066,2066,2066	2	1	3		122	1,8471		0,1,4235	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	29,29,29,29,29,29	0,1,6373	TT,TC,CC		0.0118,0.0,0.0078	benign,benign,benign,benign,benign,benign	689/2016,689/2017,689/1999,689/1984,689/1963,689/2017	38639416	1,12747	2138	4236	6374	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639416C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2066G>A	3.37:g.38639416C>T	ENSP00000328968:p.Arg689His					SCN5A_uc021wvk.1_Missense_Mutation_p.R689H|SCN5A_uc021wvl.1_Missense_Mutation_p.R689H|SCN5A_uc021wvm.1_Missense_Mutation_p.R689H|SCN5A_uc021wvn.1_Missense_Mutation_p.R689H|SCN5A_uc021wvp.1_Missense_Mutation_p.R689H|SCN5A_uc021wvq.1_Missense_Mutation_p.R689H|SCN5A_uc021wvr.1_Missense_Mutation_p.R689H|SCN5A_uc021wvs.1_Missense_Mutation_p.R689H|SCN5A_uc021wvt.1_Missense_Mutation_p.R689H|SCN5A_uc021wvu.1_Missense_Mutation_p.R689H|SCN5A_uc021wvv.1_Missense_Mutation_p.R689H|SCN5A_uc021wvj.1_Missense_Mutation_p.R555H|SCN5A_uc021wvi.1_Missense_Mutation_p.R555H|SCN5A_uc021wvw.1_Missense_Mutation_p.R300H	p.R689H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	2118	-	Medulloblastoma(35;0.163)		689					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2066G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453533	0.26161	0.0	1.18E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96168	-3.84;-3.87;-3.87;-3.88;-3.87;-3.84;-3.87;-3.93;-3.88;-3.88	4.9	2.01	0.26516	.	1.137170	0.06183	N	0.679836	D	0.92143	0.7509	L	0.39898	1.24	0.29777	N	0.834339	B;B;B;B;B;B;B	0.14012	0.001;0.002;0.003;0.001;0.001;0.009;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.0;0.002;0.001;0.001;0.004;0.002	D	0.83784	0.0227	10	0.59425	D	0.04	.	7.0199	0.24908	0.0:0.4331:0.0:0.5669	.	689;689;689;689;689;689;689	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	689	ENSP00000398962:R689H;ENSP00000398266:R689H;ENSP00000410257:R689H;ENSP00000388797:R689H;ENSP00000397915:R689H;ENSP00000416634:R689H;ENSP00000328968:R689H;ENSP00000399524:R689H;ENSP00000403355:R689H;ENSP00000413996:R689H	ENSP00000328968:R689H	R	-	2	0	SCN5A	38614420	0.039000	0.19947	0.969000	0.41365	0.377000	0.30045	0.239000	0.18023	0.227000	0.20999	0.491000	0.48974	CGT		0.537	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38639416	C	T	38639416	3	4	82	1	0	0	0	0	1	0	0	0	13922	536	19	1	4044	1	SCN5A	3	38639416	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	6608508	38639416	159383014	15	5543											
GPR27	2850	broad.mit.edu	37	chr3	71804047	71804047	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacggagaagaggctgTgcaagatgttctacgccgtc	11	8	13	9	3	2	4	1	0	1	4	3	5	2	4	1	2	2	3	1	2	4	2	rs201847276		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:71804047T>G	ENST00000304411.2	+	1	847	c.847T>G	c.(847-849)Tgc>Ggc	p.C283G	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	283					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C283G(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GAAGAGGCTGTGCAAGATGTT	0.721																																						uc011bge.2																			1	Substitution - Missense(1)	p.C283G(2)	prostate(1)	kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(847-849)Tgc>Ggc		Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.							30	38	36					3																	71804047		2199	4300	6499	SO:0001583	missense	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804047T>G	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.847T>G	3.37:g.71804047T>G	ENSP00000303149:p.Cys283Gly					EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	p.C283G	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	0	847	+		Prostate(10;0.00899)	283						Missense_Mutation	SNP	ENST00000304411.2	37	c.847T>G	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	T	5.729	0.318930	0.10845	.	.	ENSG00000170837	ENST00000304411	T	0.71934	-0.61	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.073354	0.56097	U	0.000032	T	0.44664	0.1304	N	0.02412	-0.56	0.41589	D	0.988785	B	0.12013	0.005	B	0.09377	0.004	T	0.39272	-0.9622	10	0.42905	T	0.14	-3.7606	12.1822	0.54218	0.0:0.0:0.0:1.0	.	283	Q9NS67	GPR27_HUMAN	G	283	ENSP00000303149:C283G	ENSP00000303149:C283G	C	+	1	0	GPR27	71886737	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	2.669000	0.46825	1.273000	0.44346	0.254000	0.18369	TGC		0.721	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		G	71804047	T	G	71804047	3	3	82	1	0	0	0	0	1	0	0	0	6685	1696	59	5	849	5	GPR27	3	71804047	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	33164631	71804047	126218383	16	5544											
CD96	10225	broad.mit.edu	37	chr3	111356989	111356989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaactgccaatggatctaCgaaaactaatcacgtccata	16	8	5	12	2	2	0	1	0	1	0	3	2	3	1	2	1	4	0	2	1	7	3	rs140955483	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:111356989C>T	ENST00000283285.5	+	13	1630	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CD96_ENST00000352690.4_Missense_Mutation_p.T484M	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	500	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AATGGATCTACGAAAACTAAT	0.388									Opitz Trigonocephaly syndrome				C|||	2	0.000399361	8e-04	0	5008	,	,		17337	0		0	False		,,,				2504	0.001					uc003dxw.3																			0		p.T500A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(1498-1500)aCg>aTg		Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	181	165	170		1451,1499	2.8	1	3	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD96	NM_005816.4,NM_198196.2	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	484/570,500/586	111356989	3,13003	2203	4300	6503	SO:0001583	missense	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111356989C>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1499C>T	3.37:g.111356989C>T	ENSP00000283285:p.Thr500Met					CD96_uc003dxx.3_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	p.T500M	NM_198196	NP_937839	P40200	TACT_HUMAN			12	1669	+			500			Pro/Ser/Thr-rich.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1499C>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452815	0.26074	4.54E-4	1.16E-4	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.74106	-0.81;-0.81	4.7	2.77	0.32553	.	0.325477	0.26828	N	0.022291	T	0.75125	0.3807	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66847	0.886;0.947;0.886	T	0.73733	-0.3890	10	0.54805	T	0.06	-2.7937	9.6167	0.39696	0.3797:0.6203:0.0:0.0	.	483;484;500	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	M	484;500	ENSP00000342040:T484M;ENSP00000283285:T500M	ENSP00000283285:T500M	T	+	2	0	CD96	112839679	0.026000	0.19158	0.989000	0.46669	0.610000	0.37248	0.020000	0.13466	0.612000	0.30071	0.563000	0.77884	ACG		0.388	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			T	111356989	C	T	111356989	3	4	82	1	0	0	0	0	1	0	0	0	3048	536	19	1	1549	1	CD96	3	111356989	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	39552942	111356989	86665441	17	5545											
TNK2	10188	broad.mit.edu	37	chr3	195599202	195599203	+	Frame_Shift_Del	DEL	CT	CT	-																															ggggtcactgtcgccatgccCtgtgtggatgaagctgttct																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:195599202_195599203delCT	ENST00000333602.6	-	10	2012_2013	c.1395_1396delAG	c.(1393-1398)acagggfs	p.G466fs	TNK2_ENST00000428187.1_Frame_Shift_Del_p.G498fs|TNK2_ENST00000316664.3_Frame_Shift_Del_p.G466fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.G466fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.G529fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	466	CRIB.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGCCATGCCCTGTGTGGATGA	0.673																																						uc003fvu.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1393-1398)acagggfs		Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599202_195599203delCT	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1395_1396delAG	3.37:g.195599202_195599203delCT	ENSP00000329425:p.Gly466fs					TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	p.T465fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	9	1938_1939	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	465	Missing (in Ref. 4; AAH08884).		CRIB.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	c.1395_1396delAG	CCDS33928.1																																																																																				0.673	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		-	195599203	CT	-	195599202	7	5	82	1	0	1	0	1	0	0	0	0	16315	681	24	0	1793	0	TNK2	3	195599202	Frame_Shift_Del	DEL	CT	TCGA-06-2565-01A-01D-1494-08	84242213	195599202	2423228	18	5546											
PKD2	5311	broad.mit.edu	37	chr4	88987002	88987002	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgaacatgaacatcagCagatgagagacgacttggag	15	6	12	8	2	1	5	1	3	0	2	1	9	1	6	1	1	3	1	1	1	2	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr4:88987002C>T	ENST00000508588.1	+	7	978	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Nonsense_Mutation_p.Q777*|PKD2_ENST00000502363.1_Nonsense_Mutation_p.Q195*			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGAACATCAGCAGATGAGAGA	0.443																																						uc003hre.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2329-2331)Cag>Tag		Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.							187	162	170					4																	88987002		2203	4300	6503	SO:0001587	stop_gained	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88987002C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.583C>T	4.37:g.88987002C>T	ENSP00000427131:p.Gln195*					PKD2_uc011cdf.2_Nonsense_Mutation_p.Q195*|PKD2_uc011cdg.2_Nonsense_Mutation_p.Q103*|PKD2_uc011cdh.2_5'UTR	p.Q777*	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2416	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	777			EF-hand domain.|EF-hand.		Q8TB08|Q9P0T6|Q9Y3X8	Nonsense_Mutation	SNP	ENST00000508588.1	37	c.2329C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.553212	0.98861	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	.	.	.	5.74	5.74	0.90152	.	0.132116	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-20.2877	14.7393	0.69440	0.1446:0.8554:0.0:0.0	.	.	.	.	X	777;195;195	.	ENSP00000237596:Q777X	Q	+	1	0	PKD2	89206026	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.538000	0.82048	2.715000	0.92844	0.655000	0.94253	CAG		0.443	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		T	88987002	C	T	88987002	4	4	82	1	0	0	0	0	0	1	0	0	11966	711	25	3	2375	3	PKD2	4	88987002	Nonsense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		88987002	102167274	19	5547											
TERT	7015	broad.mit.edu	37	chr5	1279521	1279521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcccaggaggccggggCgccgcgcccgctcgtagttg	4	4	18	15	7	0	0	0	0	0	0	1	1	0	1	4	5	0	3	4	5	1	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:1279521C>T	ENST00000310581.5	-	5	2072	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	TERT_ENST00000334602.6_Missense_Mutation_p.R672H|TERT_ENST00000508104.2_Missense_Mutation_p.R672H|TERT_ENST00000296820.5_Missense_Mutation_p.R672H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	672	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.R672H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GAGGCCGGGGCGCCGCGCCCG	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			1	Substitution - Missense(1)	p.R672H(2)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2014-2016)cGc>cAc		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							7	10	9					5																	1279521		2058	4069	6127	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1279521C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2015G>A	5.37:g.1279521C>T	ENSP00000309572:p.Arg672His					TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.R124H	p.R672H	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	2073	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		672			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2015G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974398	0.02215	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96745	-4.11;-4.06;-4.0;-4.06	4.67	2.51	0.30379	Reverse transcriptase (1);	0.380726	0.27841	N	0.017630	D	0.88020	0.6325	N	0.11845	0.185	0.09310	N	1	B;B;B	0.21688	0.059;0.027;0.035	B;B;B	0.14578	0.011;0.003;0.005	T	0.77159	-0.2690	10	0.25106	T	0.35	-11.6665	4.3039	0.10937	0.0:0.62:0.0:0.38	.	672;672;672	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	H	672	ENSP00000309572:R672H;ENSP00000296820:R672H;ENSP00000334346:R672H;ENSP00000426042:R672H	ENSP00000296820:R672H	R	-	2	0	TERT	1332521	0.000000	0.05858	0.015000	0.15790	0.009000	0.06853	0.132000	0.15891	0.933000	0.37291	0.313000	0.20887	CGC		0.697	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			T	1279521	C	T	1279521	3	4	82	1	0	0	0	0	1	0	0	0	15761	768	27	1	1431	1	TERT	5	1279521	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		1279521	179635739	20	5548											
ADAMTS16	170690	broad.mit.edu	37	chr5	5222920	5222920	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatctgtaaagccctgTggtgccatcgtattggaagg	10	10	13	8	1	1	0	0	0	1	0	2	2	1	2	2	4	2	2	2	4	4	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:5222920T>G	ENST00000274181.7	+	11	1762	c.1624T>G	c.(1624-1626)Tgg>Ggg	p.W542G	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.W542G	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	542	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAAAGCCCTGTGGTGCCATCG	0.358																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1624-1626)Tgg>Ggg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							123	113	116					5																	5222920		1906	4130	6036	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5222920T>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1624T>G	5.37:g.5222920T>G	ENSP00000274181:p.Trp542Gly					ADAMTS16_uc003jdk.1_Missense_Mutation_p.W542G|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W542G	p.W542G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			10	1762	+			542			Disintegrin.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1624T>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041515	0.75732	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.67171	-0.18;-0.25	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.946;0.997;0.999	D	0.90709	0.4626	10	0.87932	D	0	.	14.6052	0.68472	0.0:0.0:0.0:1.0	.	542;542;542	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	G	542	ENSP00000274181:W542G;ENSP00000421631:W542G	ENSP00000274181:W542G	W	+	1	0	ADAMTS16	5275920	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.993000	0.76245	2.086000	0.62901	0.533000	0.62120	TGG		0.358	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		G	5222920	T	G	5222920	3	3	82	1	0	0	0	0	1	0	0	0	261	1696	59	5	1666	5	ADAMTS16	5	5222920	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	3943399	5222920	175692340	21	5549											
BASP1	10409	broad.mit.edu	37	chr5	17275820	17275820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggagaccaaaagtgaCggggccccagcttcagactc	11	4	12	14	1	1	3	1	1	0	2	2	4	1	3	4	3	1	1	4	3	2	1	rs370758278	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:17275820C>T	ENST00000322611.3	+	2	755	c.495C>T	c.(493-495)gaC>gaT	p.D165D		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	165					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CCAAAAGTGACGGGGCCCCAG	0.682													C|||	2	0.000399361	0	0	5008	,	,		9004	0.002		0	False		,,,				2504	0					uc003jfx.3																			0				endometrium(1)|lung(8)	9						c.(493-495)gaC>gaT		Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.							6	9	8					5																	17275820		2115	4182	6297	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275820C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.495C>T	5.37:g.17275820C>T						BASP1_uc021xws.1_Silent_p.D165D	p.D165D	NM_006317	NP_006308	P80723	BASP1_HUMAN			1	674	+			165					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.495C>T	CCDS3888.1																																																																																				0.682	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			T	17275820	C	T	17275820	2	4	82	1	0	0	0	0	0	0	0	1	1317	535	19	1		1	BASP1	5	17275820	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	12052900	17275820	163639440	22	5550											
FBN2	2201	broad.mit.edu	37	chr5	127728882	127728882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacaccggctcccccaaCgccaggagaaaagccattgc	11	3	8	19	2	0	1	0	0	0	1	1	2	1	1	7	2	3	1	7	2	3	1	rs138046782		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:127728882C>T	ENST00000508053.1	-	16	2385	c.1411G>A	c.(1411-1413)Gtt>Att	p.V471I	FBN2_ENST00000508989.1_Missense_Mutation_p.V438I|FBN2_ENST00000262464.4_Missense_Mutation_p.V471I			P35556	FBN2_HUMAN	fibrillin 2	471					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V471I(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCCCCCAACGCCAGGAGAA	0.577																																						uc003kuu.3																			2	Substitution - Missense(2)	p.V471I(3)|p.G470G(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1411-1413)Gtt>Att		Homo sapiens fibrillin 2 (FBN2), mRNA.		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	80	87	84		1411	3.8	1	5	dbSNP_134	84	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	471/2913	127728882	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728882C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1411G>A	5.37:g.127728882C>T	ENSP00000424571:p.Val471Ile					FBN2_uc003kuv.2_Missense_Mutation_p.V438I	p.V471I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1850	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	471					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1411G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	3.741	-0.053523	0.07362	2.27E-4	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.85773	-1.81;-1.81;-2.03	3.8	3.8	0.43715	.	0.131649	0.33515	N	0.004839	T	0.76730	0.4028	L	0.38175	1.15	0.30642	N	0.75632	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.71318	-0.4629	10	0.34782	T	0.22	.	10.6368	0.45569	0.0:0.9089:0.0:0.0911	.	438;471	D6RJI3;P35556	.;FBN2_HUMAN	I	471;471;438	ENSP00000262464:V471I;ENSP00000424571:V471I;ENSP00000425596:V438I	ENSP00000262464:V471I	V	-	1	0	FBN2	127756781	0.678000	0.27586	0.975000	0.42487	0.269000	0.26545	0.911000	0.28584	2.402000	0.81655	0.563000	0.77884	GTT		0.577	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127728882	C	T	127728882	3	4	82	1	0	0	0	0	1	0	0	0	5703	536	19	1	7551	1	FBN2	5	127728882	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	110453062	127728882	53186378	23	5551											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711985	140711985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccggcgtggagctggcGcccctctccgcagagcccgg	4	6	14	17	5	2	1	0	0	2	1	3	2	2	2	5	4	3	2	5	4	1	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:140711985G>A	ENST00000517417.1	+	1	1734	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PCDHGA1_ENST00000378105.3_Silent_p.A578A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	578	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCTCTCCG	0.657																																						uc003lji.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1732-1734)gcG>gcA		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							72	85	81					5																	140711985		2203	4300	6503	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711985G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1734G>A	5.37:g.140711985G>A						PCDHGC5_uc011dan.2_Silent_p.A578A	p.A578A	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1734	+			579			Cadherin 6.		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1734G>A	CCDS54922.1																																																																																				0.657	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140711985	G	A	140711985	2	1	82	1	0	0	0	0	0	0	0	1	11550	1074	38	1		1	PCDHGA1	5	140711985	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	12983103	140711985	40203275	24	5552											
SPINK6	404203	broad.mit.edu	37	chr5	147585617	147585617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgtcttcagtcagggagGacaggtcagtgcctattttt	8	13	13	7	0	4	0	3	0	1	0	4	2	4	2	1	4	1	0	1	4	1	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:147585617G>A	ENST00000325630.2	+	2	333	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	26	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGGAGGACAGGTCAGT	0.383																																						uc003lpa.3																			0				endometrium(1)|ovary(1)	2						c.(76-78)gGa>gAa		Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.							277	259	265					5																	147585617		2203	4300	6503	SO:0001583	missense	404203					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147585617G>A	AY358716	CCDS34268.1	5q32	2011-08-31	2005-08-17		ENSG00000178172	ENSG00000178172		"Serine peptidase inhibitors, Kazal type"	29486	protein-coding gene	gene with protein product	"protease inhibitor H"	615868	"serine protease inhibitor, Kazal type 6"			15060002	Standard	NM_205841		Approved	MGC21394, UNQ844, BUSI2	uc021yff.1	Q6UWN8	OTTHUMG00000163425	ENST00000325630.2:c.77G>A	5.37:g.147585617G>A	ENSP00000324870:p.Gly26Glu					SPINK6_uc021yff.1_Missense_Mutation_p.G26E	p.G26E	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	380	+			26			Kazal-like.		E0X656|Q8N5P0	Missense_Mutation	SNP	ENST00000325630.2	37	c.77G>A	CCDS34268.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.066692	0.01934	.	.	ENSG00000178172	ENST00000514389;ENST00000325630	T;T	0.64618	0.61;-0.11	4.08	-4.72	0.03269	.	1.978000	0.02185	N	0.060875	T	0.43299	0.1241	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13495	-1.0507	9	0.51188	T	0.08	5.4416	1.2616	0.02002	0.4183:0.2519:0.1885:0.1413	.	26	Q6UWN8	ISK6_HUMAN	E	26	ENSP00000421119:G26E;ENSP00000324870:G26E	ENSP00000324870:G26E	G	+	2	0	SPINK6	147565810	0.001000	0.12720	0.001000	0.08648	0.064000	0.16182	-1.653000	0.01986	-1.118000	0.02961	-0.355000	0.07637	GGA		0.383	SPINK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373332.1	NM_205841		A	147585617	G	A	147585617	3	1	82	1	0	0	0	0	1	0	0	0	15062	1174	41	3	83	3	SPINK6	5	147585617	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	6873632	147585617	33329643	25	5553											
GPR116	221395	broad.mit.edu	37	chr6	46826170	46826170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagacattcttcctcGtatagacttcccggggctgg	8	10	10	13	2	1	2	0	0	1	2	4	2	3	2	3	3	1	2	3	3	3	5	rs141322343	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr6:46826170G>A	ENST00000283296.7	-	17	3758	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	GPR116_ENST00000545669.1_Missense_Mutation_p.T586M|GPR116_ENST00000265417.7_Missense_Mutation_p.T1157M|GPR116_ENST00000456426.2_Missense_Mutation_p.T1015M|GPR116_ENST00000362015.4_Missense_Mutation_p.T1157M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1157					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCTTCCTCGTATAGACTTC	0.557													G|||	2	0.000399361	8e-04	0	5008	,	,		20065	0.001		0	False		,,,				2504	0				NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3469-3471)aCg>aTg		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.		G	MET/THR,MET/THR	6,4400	9.9+/-24.2	0,6,2197	34	33	34		3470,3470	-0.9	0.1	6	dbSNP_134	34	0,8600		0,0,4300	no	missense,missense	GPR116	NM_001098518.1,NM_015234.4	81,81	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	1157/1347,1157/1347	46826170	6,13000	2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826170G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3470C>T	6.37:g.46826170G>A	ENSP00000283296:p.Thr1157Met					GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M	p.T1157M	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		16	3759	-			1157					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3470C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296331	0.10622	0.001362	0.0	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.38	-0.857	0.10693	GPCR, family 2-like (1);	0.497913	0.19618	N	0.109971	T	0.10637	0.0260	N	0.16266	0.395	0.24200	N	0.995513	P;B;D;B;D	0.54207	0.525;0.231;0.965;0.407;0.965	B;B;B;B;B	0.42112	0.03;0.103;0.376;0.105;0.376	T	0.35375	-0.9791	10	0.32370	T	0.25	-1.0235	11.0946	0.48137	0.3961:0.0:0.6039:0.0	.	586;712;1157;1015;1157	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	M	1157;1157;1157;1015;528;1157;586	ENSP00000283296:T1157M;ENSP00000354563:T1157M;ENSP00000412866:T1015M;ENSP00000265417:T1157M;ENSP00000441581:T586M	ENSP00000265417:T1157M	T	-	2	0	GPR116	46934129	0.000000	0.05858	0.051000	0.19133	0.500000	0.33767	-0.217000	0.09253	-0.149000	0.11215	0.650000	0.86243	ACG		0.557	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46826170	G	A	46826170	3	1	82	1	0	0	0	0	1	0	0	0	6633	1145	40	1	590	1	GPR116	6	46826170	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		46826170	124288897	26	5554											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		6	Substitution - Missense(6)	p.R108K(13)|p.V30_R297>G(5)	central_nervous_system(6)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)aGa>aAa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	119	119					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55211080	G	A	55211080	3	1	82	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		55211080	103927583	27	5555											
EGFR	1956	broad.mit.edu	37	chr7	55240690	55240690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccaggcctaagatcccgtCcatcgccactgggatggtgg	7	9	12	13	2	0	1	0	0	0	1	4	2	3	2	5	4	0	0	5	4	1	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55240690C>G	ENST00000275493.2	+	17	2111	c.1934C>G	c.(1933-1935)tCc>tGc	p.S645C	EGFR_ENST00000455089.1_Missense_Mutation_p.S600C|EGFR_ENST00000454757.2_Missense_Mutation_p.S592C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	645					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGATCCCGTCCATCGCCACT	0.612		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1933-1935)tCc>tGc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						95	81	86					7																	55240690		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240690C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1934C>G	7.37:g.55240690C>G	ENSP00000275493:p.Ser645Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.S645C|EGFR_uc010kzg.2_Missense_Mutation_p.S600C|EGFR_uc022adn.1_Missense_Mutation_p.S600C|EGFR_uc011kco.2_Missense_Mutation_p.S592C	p.S645C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2180	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		645					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1934C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239821	0.39598	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.75477	-0.94;-0.94;-0.94	5.67	5.67	0.87782	.	0.197336	0.53938	D	0.000055	D	0.86577	0.5966	M	0.83953	2.67	0.45777	D	0.998665	D;D	0.76494	0.999;0.999	P;D	0.74023	0.873;0.982	D	0.85907	0.1438	10	0.38643	T	0.18	.	16.4727	0.84115	0.0:1.0:0.0:0.0	.	600;645	Q504U8;P00533	.;EGFR_HUMAN	C	600;515;645;592;439	ENSP00000415559:S600C;ENSP00000275493:S645C;ENSP00000395243:S592C	ENSP00000275493:S645C	S	+	2	0	EGFR	55208184	1.000000	0.71417	0.998000	0.56505	0.131000	0.20780	5.938000	0.70170	2.647000	0.89833	0.655000	0.94253	TCC		0.612	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55240690	C	G	55240690	3	3	82	1	0	0	0	0	1	0	0	0	4967	855	30	5	2264	5	EGFR	7	55240690	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	29610	55240690	103897973	28	5556											
TYW1	55253	broad.mit.edu	37	chr7	66482862	66482862	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaaaatgttgacaagtGgctctggatgcttggcgcgc	9	10	14	8	2	1	1	0	1	1	0	1	2	1	2	0	4	1	4	0	4	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:66482862G>A	ENST00000359626.5	+	6	757	c.593G>A	c.(592-594)tGg>tAg	p.W198*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	198	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GTTGACAAGTGGCTCTGGATG	0.512																																						uc003tvn.3																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(592-594)tGg>tAg		Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.							80	73	75					7																	66482862		2203	4300	6503	SO:0001587	stop_gained	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66482862G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.593G>A	7.37:g.66482862G>A	ENSP00000352645:p.Trp198*					TYW1_uc010lai.3_Non-coding_Transcript	p.W198*	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			5	742	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	198			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Nonsense_Mutation	SNP	ENST00000359626.5	37	c.593G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759114	0.69763	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	.	.	.	4.03	4.03	0.46877	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0157	0.64523	0.0:0.0:1.0:0.0	.	.	.	.	X	198;133	.	ENSP00000352645:W198X	W	+	2	0	TYW1	66120297	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.803000	0.91915	2.254000	0.74563	0.313000	0.20887	TGG		0.512	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		A	66482862	G	A	66482862	4	1	82	1	0	0	0	0	0	1	0	0	16815	1357	47	3	615	3	TYW1	7	66482862	Nonsense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	11242172	66482862	92655801	29	5557											
CD36	948	broad.mit.edu	37	chr7	80290463	80290463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcccaatggtgccatcttCgaaccttcactatcagttgg	9	11	8	13	1	3	0	2	0	1	0	4	1	3	0	3	2	3	1	3	2	3	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:80290463C>T	ENST00000435819.1	+	8	1050	c.366C>T	c.(364-366)ttC>ttT	p.F122F	CD36_ENST00000447544.2_Silent_p.F122F|CD36_ENST00000433696.2_Silent_p.F122F|CD36_ENST00000544133.1_Silent_p.F122F|CD36_ENST00000538969.1_Silent_p.F122F|CD36_ENST00000309881.7_Silent_p.F122F|CD36_ENST00000432207.1_Silent_p.F122F|CD36_ENST00000394788.3_Silent_p.F122F|CD36_ENST00000534394.1_Silent_p.F46F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	122					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGCCATCTTCGAACCTTCAC	0.428																																						uc003uhc.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(364-366)ttC>ttT		Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.							129	109	116					7																	80290463		2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80290463C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.366C>T	7.37:g.80290463C>T						CD36_uc011kgv.2_Silent_p.F46F|CD36_uc003uhd.4_Silent_p.F122F|CD36_uc003uhe.4_Silent_p.F122F|CD36_uc003uhf.4_Silent_p.F122F|CD36_uc003uhg.4_Silent_p.F122F|CD36_uc003uhh.4_Silent_p.F122F|CD36_uc022agu.1_Silent_p.F122F|CD36_uc022agv.1_Silent_p.F122F	p.F122F	NM_001127444	NP_001120916	P16671	CD36_HUMAN			7	1050	+			122					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.366C>T	CCDS34673.1																																																																																				0.428	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		T	80290463	C	T	80290463	2	4	82	1	0	0	0	0	0	0	0	1	3007	883	31	2		2	CD36	7	80290463	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	13807601	80290463	78848200	30	5558											
SEMA3E	9723	broad.mit.edu	37	chr7	83034830	83034830	+	Frame_Shift_Del	DEL	C	C	-																															tctggtaggtagcaaaaaaaCgtcctctgaaaaattaaagg																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:83034830delC	ENST00000307792.3	-	9	1401	c.934delG	c.(934-936)gttfs	p.V312fs	SEMA3E_ENST00000427262.1_Frame_Shift_Del_p.V252fs	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	312	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCAAAAAAACGTCCTCTGAA	0.313																																						uc003uhy.2																			0		p.D311Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(934-936)gttfs		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							94	96	95					7																	83034830		2203	4300	6503	SO:0001589	frameshift_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83034830delC	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.934delG	7.37:g.83034830delC	ENSP00000303212:p.Val312fs					SEMA3E_uc022agy.1_Frame_Shift_Del_p.V252fs	p.V312fs	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			8	1555	-		Medulloblastoma(109;0.109)	312			Sema.		B4E1P1|Q75M94|Q75M97	Frame_Shift_Del	DEL	ENST00000307792.3	37	c.934delG	CCDS34674.1																																																																																				0.313	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		-	83034830	C	-	83034830	7	5	82	1	0	1	0	1	0	0	0	0	14028	536	19	0	1429	0	SEMA3E	7	83034830	Frame_Shift_Del	DEL	C	TCGA-06-2565-01A-01D-1494-08	2744367	83034830	76103833	31	5559											
ANK1	286	broad.mit.edu	37	chr8	41521227	41521227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgaattgctcctctgtcaCctgctcccctggaatattct	6	14	7	14	1	3	1	1	1	2	0	5	2	5	2	4	1	2	2	4	1	3	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:41521227C>T	ENST00000347528.4	-	40	5511	c.5428G>A	c.(5428-5430)Gtg>Atg	p.V1810M	ANK1_ENST00000352337.4_Missense_Mutation_p.V1810M|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522543.1_Missense_Mutation_p.V85M|ANK1_ENST00000457297.1_Missense_Mutation_p.V85M|ANK1_ENST00000396942.1_Missense_Mutation_p.V1810M|ANK1_ENST00000265709.8_Missense_Mutation_p.V1851M|ANK1_ENST00000379758.2_Missense_Mutation_p.V1810M|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.V1810M|ANK1_ENST00000314214.8_Missense_Mutation_p.V85M|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.V85M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1810	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTCTGTCACCTGCTCCCCT	0.537																																						uc003xok.3																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5428-5430)Gtg>Atg		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							202	148	166					8																	41521227		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41521227C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5428G>A	8.37:g.41521227C>T	ENSP00000339620:p.Val1810Met					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.V964M|ANK1_uc003xoi.3_Missense_Mutation_p.V1810M|ANK1_uc003xoj.3_Missense_Mutation_p.V1810M|ANK1_uc003xol.3_Missense_Mutation_p.V1648M|ANK1_uc003xom.3_Missense_Mutation_p.V1851M|ANK1_uc003xof.3_Missense_Mutation_p.V85M|ANK1_uc011lcl.2_Missense_Mutation_p.V85M|ANK1_uc003xod.3_Missense_Mutation_p.V85M|ANK1_uc003xoc.3_Missense_Mutation_p.V85M	p.V1810M	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		39	5512	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1810			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5428G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.738098|4.738098	0.89573|0.89573	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000457297;ENST00000396942;ENST00000352337;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709;ENST00000348036;ENST00000335651	.|T;T;T;T;T;D;D;D;T	.|0.92911	.|-1.29;-1.29;-1.25;-1.28;-1.14;-2.62;-3.13;-3.12;-1.18	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95765|0.95765	0.8622|0.8622	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;P;B;D;D;D;D;D	.|0.89917	.|0.999;0.971;1.0;0.916;0.432;0.987;0.999;0.999;1.0;0.997	.|D;P;D;P;B;P;D;D;D;D	.|0.97110	.|1.0;0.866;0.997;0.448;0.299;0.902;0.997;0.998;1.0;0.959	D|D	0.95485|0.95485	0.8564|0.8564	5|10	.|0.72032	.|D	.|0.01	.|.	19.1573|19.1573	0.93516|0.93516	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|85;1851;1648;1810;1810;1810;964;85;85;85	.|Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;A0PJN8;Q53ER1;E5RFL7	.|.;.;.;ANK1_HUMAN;.;.;.;.;.;.	D|M	969|1810;1810;1810;85;1810;1810;85;85;85;1851;85;85	.|ENSP00000339620:V1810M;ENSP00000289734:V1810M;ENSP00000369082:V1810M;ENSP00000380147:V1810M;ENSP00000309131:V1810M;ENSP00000428750:V85M;ENSP00000430368:V85M;ENSP00000319123:V85M;ENSP00000265709:V1851M	.|ENSP00000265709:V1851M	G|V	-|-	2|1	0|0	ANK1|ANK1	41640384|41640384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.369000|5.369000	0.66138|0.66138	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41521227	C	T	41521227	3	4	82	1	0	0	0	0	1	0	0	0	620	507	18	3	332	3	ANK1	8	41521227	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		41521227	104842795	32	5560											
RP1	6101	broad.mit.edu	37	chr8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacagttgagatgaaagttCgattcagaataaaagaggaa	18	9	11	3	1	1	5	1	3	0	3	2	8	1	6	0	1	0	2	0	1	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1012-1014)Cga>Tga		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							68	67	67					8																	55537454		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537454C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1012C>T	8.37:g.55537454C>T	ENSP00000220676:p.Arg338*					RP1_uc011ldy.1_Intron	p.R338*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	1160	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	338						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.1012C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	RP1	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55537454	C	T	55537454	4	4	82	1	0	0	0	0	0	1	0	0	13532	876	31	2	1022	2	RP1	8	55537454	Nonsense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	14016227	55537454	90826568	33	5561											
SLCO5A1	81796	broad.mit.edu	37	chr8	70650427	70650427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaagatcctgacagctGctcttggtaggtctacaaaa	11	12	9	9	0	2	2	0	1	2	1	3	2	3	2	1	2	4	4	1	2	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:70650427G>T	ENST00000260126.4	-	5	1977	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	SLCO5A1_ENST00000530307.1_Intron|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A424E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	424						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGACAGCTGCTCTTGGTAG	0.348																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1270-1272)gCa>gAa		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							123	115	118					8																	70650427		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70650427G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1271C>A	8.37:g.70650427G>T	ENSP00000260126:p.Ala424Glu					SLCO5A1_uc010lzb.3_Intron|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A424E|SLCO5A1_uc010lzc.2_Intron	p.A424E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1978	-	Breast(64;0.0654)		424					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1271C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961042	0.92791	.	.	ENSG00000137571	ENST00000260126;ENST00000524945	T;T	0.40756	1.02;1.02	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72887	-0.4156	10	0.72032	D	0.01	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	424;424	Q9H2Y9;G3V1C0	SO5A1_HUMAN;.	E	424	ENSP00000260126:A424E;ENSP00000434422:A424E	ENSP00000260126:A424E	A	-	2	0	SLCO5A1	70812981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.863000	0.99569	2.736000	0.93811	0.655000	0.94253	GCA		0.348	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		T	70650427	G	T	70650427	3	4	82	1	0	0	0	0	1	0	0	0	14731	1319	46	5	1299	5	SLCO5A1	8	70650427	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	15112973	70650427	75713595	34	5562											
KLF10	7071	broad.mit.edu	37	chr8	103662460	103662460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgatagatggcgccggGcatgcttggtcaaatggtca	8	10	15	8	2	2	2	2	1	0	1	2	2	2	2	1	5	1	3	1	5	2	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:103662460G>A	ENST00000285407.6	-	4	1643	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	KLF10_ENST00000395884.3_Missense_Mutation_p.A437V	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	448					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGGCGCCGGGCATGCTTGGT	0.542																																					Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(1342-1344)gCc>gTc		Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.							164	141	149					8																	103662460		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103662460G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1343C>T	8.37:g.103662460G>A	ENSP00000285407:p.Ala448Val					KLF10_uc011lhj.1_Missense_Mutation_p.A437V	p.A448V	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1497	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		448					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1343C>T	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444126	0.83993	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.69040	-0.37;-0.37	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.65450	0.2692	M	0.65498	2.005	0.80722	D	1	B;D	0.53885	0.406;0.963	B;B	0.43386	0.106;0.418	T	0.65717	-0.6100	10	0.05436	T	0.98	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	448;437	Q13118;O75411	KLF10_HUMAN;.	V	448;437	ENSP00000285407:A448V;ENSP00000379222:A437V	ENSP00000285407:A448V	A	-	2	0	KLF10	103731636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.030000	0.88816	2.733000	0.93635	0.655000	0.94253	GCC		0.542	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			A	103662460	G	A	103662460	3	1	82	1	0	0	0	0	1	0	0	0	8338	1203	42	3	103	3	KLF10	8	103662460	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	33012033	103662460	42701562	35	5563											
HEMGN	55363	broad.mit.edu	37	chr9	100698486	100698486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtttccttttcatgcActtcagcttttctttttcta	5	22	5	9	0	4	1	2	1	2	0	5	1	5	1	1	0	2	3	1	0	1	9			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr9:100698486A>G	ENST00000259456.3	-	3	283	c.140T>C	c.(139-141)gTg>gCg	p.V47A		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	47	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCATGCACTTCAGCTTT	0.348																																						uc004axy.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(139-141)gTg>gCg		Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.							301	251	268					9																	100698486		2202	4300	6502	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100698486A>G	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.140T>C	9.37:g.100698486A>G	ENSP00000259456:p.Val47Ala					HEMGN_uc004axz.3_Missense_Mutation_p.V47A	p.V47A	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			1	248	-		Acute lymphoblastic leukemia(62;0.0559)	47			Necessary for nuclear localization.		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.140T>C	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.521573	0.00967	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.63	3.78	0.43462	.	0.353820	0.27797	N	0.017812	T	0.13586	0.0329	N	0.04063	-0.285	0.23727	N	0.997001	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	9	0.02654	T	1	-10.6081	8.6285	0.33904	0.1698:0.0:0.8302:0.0	.	47	Q9BXL5	HEMGN_HUMAN	A	47	.	ENSP00000259456:V47A	V	-	2	0	HEMGN	99738307	0.531000	0.26338	0.985000	0.45067	0.057000	0.15508	0.526000	0.22971	0.840000	0.34995	-0.912000	0.02778	GTG		0.348	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		G	100698486	A	G	100698486	3	3	82	1	0	0	0	0	1	0	0	0	7050	159	6	4	1326	4	HEMGN	9	100698486	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08		100698486	40514945	36	5564											
BMI1	648	broad.mit.edu	37	chr10	22617609	22617609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagaagtaaaatggaCatacctaatactttccaggt	14	13	6	8	0	1	1	1	0	1	1	3	2	2	2	2	2	2	1	2	2	6	6			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:22617609C>T	ENST00000376663.3	+	8	1057	c.552C>T	c.(550-552)gaC>gaT	p.D184D	COMMD3-BMI1_ENST00000602390.1_Silent_p.D327D	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	184	Interaction with E4F1.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTAAAATGGACATACCTAATA	0.299																																						uc009xkg.3																			0											c.(979-981)gaC>gaT		Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.							79	83	82					10																	22617609		2203	4291	6494	SO:0001819	synonymous_variant	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22617609C>T	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.552C>T	10.37:g.22617609C>T						COMMD3-BMI1_uc001irh.3_Silent_p.D184D	p.D327D	NM_001204062	NP_001190991	P35226	BMI1_HUMAN			11	1016	+			184					Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	37	c.981C>T	CCDS7138.1																																																																																				0.299	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		T	22617609	C	T	22617609	2	4	82	1	0	0	0	0	0	0	0	1	1455	477	17	3		3	BMI1	10	22617609	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		22617609	112917138	37	5565											
PTCHD3	374308	broad.mit.edu	37	chr10	27702648	27702648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcgccgctccgccttggCcgggctccccacaggggtgt	4	6	15	16	4	0	0	0	0	0	0	2	1	2	0	6	4	1	2	6	4	1	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:27702648C>T	ENST00000438700.3	-	1	649	c.532G>A	c.(532-534)Gcc>Acc	p.A178T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	178					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGCCTTGGCCGGGCTCCCC	0.632																																						uc001itu.2																			0		p.P177L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(532-534)Gcc>Acc		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							96	107	103					10																	27702648		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702648C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.532G>A	10.37:g.27702648C>T	ENSP00000417658:p.Ala178Thr						p.A178T	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			0	650	-			178					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.532G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991785	0.74703	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.77	3.77	0.43336	.	0.249679	0.39407	N	0.001361	D	0.91348	0.7271	M	0.78637	2.42	0.34036	D	0.65438	D	0.71674	0.998	D	0.74348	0.983	D	0.94604	0.7798	10	0.62326	D	0.03	-23.2434	13.9502	0.64111	0.0:1.0:0.0:0.0	.	178	Q3KNS1	PTHD3_HUMAN	T	178	ENSP00000417658:A178T	ENSP00000417658:A178T	A	-	1	0	PTCHD3	27742654	0.976000	0.34144	0.231000	0.23993	0.164000	0.22412	2.401000	0.44513	1.948000	0.56530	0.555000	0.69702	GCC		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702648	C	T	27702648	3	4	82	1	0	0	0	0	1	0	0	0	12734	739	26	3	1787	3	PTCHD3	10	27702648	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	5085039	27702648	107832099	38	5566											
DNA2	1763	broad.mit.edu	37	chr10	70196997	70196997	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgcaactgccactcttctCcctatgaaaagaccaaagag	15	8	6	12	0	2	3	0	1	2	2	3	3	2	3	3	0	3	1	3	0	6	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:70196997C>T	ENST00000358410.3	-	10	1467	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	DNA2_ENST00000399179.2_Splice_Site_p.E473K|DNA2_ENST00000399180.2_Splice_Site_p.E559K	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	473	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCACTCTTCTCCCTATGAAAA	0.343																																						uc021pru.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.e10-1		Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.							82	78	79					10																	70196997		1844	4087	5931	SO:0001630	splice_region_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70196997C>T	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1416-1G>A	10.37:g.70196997C>T						DNA2_uc021prt.1_Splice_Site_p.M558_splice|DNA2_uc001jog.2_Splice_Site_p.M472_splice|DNA2_uc001joh.2_Splice_Site	p.M558_splice	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			10	1674	-			472					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.1674_splice		.	.	.	.	.	.	.	.	.	.	C	20.4	3.986723	0.74589	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.95482	-3.2;-3.72;-3.14	5.61	5.61	0.85477	.	0.121980	0.53938	D	0.000042	D	0.98049	0.9357	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	D	0.97388	0.9987	10	0.32370	T	0.25	.	19.6448	0.95771	0.0:1.0:0.0:0.0	.	473;473	F8VR31;P51530	.;DNA2L_HUMAN	K	473;559;473;473	ENSP00000382133:E559K;ENSP00000382132:E473K;ENSP00000351185:E473K	ENSP00000351185:E473K	E	-	1	0	DNA2	69867003	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.129000	0.77225	2.633000	0.89246	0.557000	0.71058	GAG		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		Missense_Mutation	T	70196997	C	T	70196997	5	4	82	1	0	0	0	0	0	0	1	0	4596	869	30	3	1813	3	DNA2	10	70196997	Splice_Site	SNP	C	TCGA-06-2565-01A-01D-1494-08	42494349	70196997	65337750	39	5567											
PTEN	5728	broad.mit.edu	37	chr10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagctagaacttaTcaaacccttttgtgaagatc	13	10	5	13	0	1	3	1	1	0	2	2	3	1	3	3	0	3	1	3	0	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:89692818T>C	ENST00000371953.3	+	5	1659	c.302T>C	c.(301-303)aTc>aCc	p.I101T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	101	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.I101T(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.I101del(1)|p.I101N(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGAACTTATCAAACCCTTT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(8)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.I101T(14)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I101del(2)|p.I101N(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.I101M(1)|p.I101I(1)|p.I101fs*10(1)|p.F56fs*2(1)|p.(L100)fs(1)	central_nervous_system(18)|prostate(17)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|large_intestine(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CX983284	PTEN	X		c.(301-303)aTc>aCc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							110	103	105					10																	89692818		2203	4298	6501	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692818T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.302T>C	10.37:g.89692818T>C	ENSP00000361021:p.Ile101Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.I101T	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1334	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	101			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.302T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412660	0.83340	.	.	ENSG00000171862	ENST00000371953	D	0.98762	-5.12	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99521	1.0958	9	.	.	.	-2.2759	14.8407	0.70220	0.0:0.0:0.0:1.0	.	101	P60484	PTEN_HUMAN	T	101	ENSP00000361021:I101T	.	I	+	2	0	PTEN	89682798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	ATC		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692818	T	C	89692818	3	2	82	1	0	0	0	0	1	0	0	0	12738	1435	50	4	320	4	PTEN	10	89692818	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	19495821	89692818	45841929	40	5568											
FAM178A	55719	broad.mit.edu	37	chr10	102697209	102697209	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcagattttaagtacAttgatggaaataacaattag	16	13	8	4	0	1	2	1	1	0	1	1	3	1	3	0	1	3	2	0	1	6	6	rs369513139		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:102697209A>G	ENST00000238961.4	+	10	3029	c.2487A>G	c.(2485-2487)acA>acG	p.T829T	FAM178A_ENST00000370269.3_Silent_p.T829T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	829						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTTTAAGTACATTGATGGAAA	0.308																																						uc001krs.3																			0											c.(2485-2487)acA>acG		Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.		A	,	0,4404		0,0,2202	136	135	136		2487,2487	-0.3	1	10		136	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	FAM178A	NM_001136123.1,NM_018121.3	,	0,1,6500	GG,GA,AA		0.0116,0.0,0.0077	,	829/1187,829/1174	102697209	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55719							g.chr10:102697209A>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2487A>G	10.37:g.102697209A>G						FAM178A_uc001krt.4_Silent_p.T829T	p.T829T	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN			9	3029	+			829					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.2487A>G	CCDS7500.1																																																																																				0.308	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			G	102697209	A	G	102697209	2	3	82	1	0	0	0	0	0	0	0	1	5503	204	8	4		4	FAM178A	10	102697209	Silent	SNP	A	TCGA-06-2565-01A-01D-1494-08	13004391	102697209	32837538	41	5569											
OR56A3	390083	broad.mit.edu	37	chr11	5969282	5969282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgagactcaaggcagagGgtgccgtggcaaaggcccta	10	6	15	10	1	1	2	1	1	0	2	1	3	1	2	2	4	2	3	2	4	3	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:5969282G>A	ENST00000329564.6	+	1	713	c.706G>A	c.(706-708)Ggt>Agt	p.G236S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGCAGAGGGTGCCGTGGC	0.522																																						uc010qzt.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(706-708)Ggt>Agt		Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.							213	208	210					11																	5969282		2188	4292	6480	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969282G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.706G>A	11.37:g.5969282G>A	ENSP00000331572:p.Gly236Ser						p.G236S	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	706	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	236					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.706G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.366084	0.24684	.	.	ENSG00000184478	ENST00000329564	T	0.00044	8.83	5.13	-0.0449	0.13853	GPCR, rhodopsin-like superfamily (1);	0.207799	0.33650	N	0.004692	T	0.00178	0.0005	L	0.53671	1.685	0.09310	N	1	P	0.42296	0.775	P	0.48227	0.571	T	0.40887	-0.9539	10	0.66056	D	0.02	-7.2124	5.7332	0.18051	0.2884:0.0:0.5869:0.1247	.	236	Q8NH54	O56A3_HUMAN	S	236	ENSP00000331572:G236S	ENSP00000331572:G236S	G	+	1	0	OR56A3	5925858	0.888000	0.30383	0.092000	0.20876	0.011000	0.07611	3.288000	0.51739	0.078000	0.16900	-0.141000	0.14075	GGT		0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		A	5969282	G	A	5969282	3	1	82	1	0	0	0	0	1	0	0	0	11134	1232	43	3	708	3	OR56A3	11	5969282	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		5969282	129037234	42	5570											
MLL	4297	broad.mit.edu	37	chr11	118376191	118376191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggggttcagcctcctcCggatccccaacttttggttt	5	15	9	12	1	1	0	1	0	0	0	4	1	4	1	5	4	2	2	5	4	2	6	rs147412214		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:118376191C>T	ENST00000389506.5	+	27	9575	c.9575C>T	c.(9574-9576)cCg>cTg	p.P3192L	KMT2A_ENST00000534358.1_Missense_Mutation_p.P3195L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3154L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3192					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGCCTCCTCCGGATCCCCAA	0.507																																						uc001pta.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(9574-9576)cCg>cTg		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.		C	LEU/PRO,LEU/PRO	1,4399	2.1+/-5.4	0,1,2199	102	106	104		9584,9575	5.6	1	11	dbSNP_134	104	0,8590		0,0,4295	no	missense,missense	MLL	NM_001197104.1,NM_005933.3	98,98	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	3195/3973,3192/3970	118376191	1,12989	2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376191C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9575C>T	11.37:g.118376191C>T	ENSP00000374157:p.Pro3192Leu					MLL_uc001ptb.3_Missense_Mutation_p.P3195L	p.P3192L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	9598	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3192					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9575C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907284	0.33628	2.27E-4	0.0	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81659	-1.52;-1.52;-1.49	5.55	5.55	0.83447	.	0.122857	0.56097	D	0.000025	T	0.68805	0.3041	L	0.36672	1.1	0.51233	D	0.999913	P;P	0.41131	0.739;0.739	B;B	0.25614	0.062;0.062	T	0.74959	-0.3486	10	0.72032	D	0.01	.	15.2155	0.73264	0.0:0.86:0.14:0.0	.	3195;3192	E9PQG7;Q03164	.;MLL1_HUMAN	L	3195;3192;3154;2102	ENSP00000436786:P3195L;ENSP00000374157:P3192L;ENSP00000346516:P3154L	ENSP00000346516:P3154L	P	+	2	0	MLL	117881401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.658000	0.54482	2.894000	0.99253	0.591000	0.81541	CCG		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118376191	C	T	118376191	3	4	82	1	0	0	0	0	1	0	0	0	9620	652	23	2	9681	2	MLL	11	118376191	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	112406909	118376191	16630325	43	5571											
CD163L1	283316	broad.mit.edu	37	chr12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagcacacagaattcccaCggcaccctggacattcacct	12	8	6	15	1	1	1	1	0	0	1	2	2	2	2	3	2	1	2	3	2	2	3	rs200380158		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:7531814C>T	ENST00000313599.3	-	9	2188	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	CD163L1_ENST00000416109.2_Missense_Mutation_p.V721M|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000396630.1_Missense_Mutation_p.V711M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	711	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													C|||	1	0.000199681	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0					uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2161-2163)Gtg>Atg		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							124	97	106					12																	7531814		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531814C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2131G>A	12.37:g.7531814C>T	ENSP00000315945:p.Val711Met					CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	p.V721M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			8	2187	-			711			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2161G>A	CCDS8577.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.658	0.489995	0.12702	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.380520	0.03455	N	0.211262	T	0.26774	0.0655	N	0.14661	0.345	0.09310	N	1	P;P	0.49961	0.93;0.786	P;P	0.47705	0.555;0.555	T	0.50329	-0.8841	10	0.87932	D	0	.	6.254	0.20864	0.399:0.4627:0.0:0.1383	.	721;711	E7EVK4;Q9NR16	.;C163B_HUMAN	M	711;721;711	ENSP00000315945:V711M;ENSP00000393474:V721M;ENSP00000379871:V711M	ENSP00000315945:V711M	V	-	1	0	CD163L1	7423081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.251000	0.00074	-3.392000	0.00172	-3.006000	0.00076	GTG		0.502	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7531814	C	T	7531814	3	4	82	1	0	0	0	0	1	0	0	0	2968	536	19	1	2274	1	CD163L1	12	7531814	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		7531814	126320081	44	5572											
NCKAP1L	3071	broad.mit.edu	37	chr12	54914540	54914540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaatctgccatgttgcGttatgccattgctttccccc	6	13	10	12	1	1	0	0	0	1	0	2	2	2	2	4	2	4	3	4	2	2	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:54914540G>A	ENST00000293373.6	+	17	1767	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R513H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	563					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATGTTGCGTTATGCCATT	0.458																																						uc001sgc.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1687-1689)cGt>cAt		Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.							430	364	386					12																	54914540		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914540G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1688G>A	12.37:g.54914540G>A	ENSP00000293373:p.Arg563His					NCKAP1L_uc010sox.2_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.2_Missense_Mutation_p.R513H	p.R563H	NM_005337	NP_005328	P55160	NCKPL_HUMAN			16	1767	+			563					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1688G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868428	0.91587	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38560	1.13;1.13	5.46	5.46	0.80206	.	0.112873	0.64402	D	0.000016	T	0.65037	0.2653	M	0.80616	2.505	0.53688	D	0.999975	D	0.64830	0.994	P	0.62014	0.897	T	0.67841	-0.5566	10	0.59425	D	0.04	-12.4671	17.2416	0.87014	0.0:0.0:1.0:0.0	.	563	P55160	NCKPL_HUMAN	H	563;513	ENSP00000293373:R563H;ENSP00000445596:R513H	ENSP00000293373:R563H	R	+	2	0	NCKAP1L	53200807	1.000000	0.71417	0.986000	0.45419	0.911000	0.54048	7.618000	0.83043	2.750000	0.94351	0.549000	0.68633	CGT		0.458	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		A	54914540	G	A	54914540	3	1	82	1	0	0	0	0	1	0	0	0	10222	1145	40	1	1754	1	NCKAP1L	12	54914540	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	47382726	54914540	78937355	45	5573											
CCT2	10576	broad.mit.edu	37	chr12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaattaatttataattatCctgaacagctctttggtgct	11	16	7	7	0	1	1	0	1	1	0	2	1	2	1	1	2	3	3	1	2	6	6			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:69987309C>T	ENST00000299300.6	+	10	1086	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_ENST00000544368.2_Missense_Mutation_p.P300S|CCT2_ENST00000543146.2_Missense_Mutation_p.P253S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	300					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.P300S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353																																						uc001svb.1																			1	Substitution - Missense(1)	p.P300S(2)	cervix(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(898-900)Cct>Tct		Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.							100	95	97					12																	69987309		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69987309C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.898C>T	12.37:g.69987309C>T	ENSP00000299300:p.Pro300Ser					CCT2_uc010stl.1_Missense_Mutation_p.P253S	p.P300S	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	992	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		300					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.898C>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367833	0.95900	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.76968	-1.06;-1.06;-1.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84616	0.0681	9	.	.	.	-5.1868	20.2985	0.98592	0.0:1.0:0.0:0.0	.	300;300	F5GWF6;P78371	.;TCPB_HUMAN	S	300;300;253	ENSP00000299300:P300S;ENSP00000441847:P300S;ENSP00000445471:P253S	.	P	+	1	0	CCT2	68273576	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	CCT		0.353	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		T	69987309	C	T	69987309	3	4	82	1	0	0	0	0	1	0	0	0	2953	855	30	3	936	3	CCT2	12	69987309	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	15072769	69987309	63864586	46	5574											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100478382	100478382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaataactcattggcccatCcattttttgttttggttgca	8	17	7	9	0	1	0	1	0	0	0	2	0	2	0	2	2	2	4	2	2	2	8			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:100478382C>G	ENST00000279907.7	-	10	1372	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.G387A|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G37A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	387										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTGGCCCATCCATTTTTTGT	0.353																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1159-1161)gGa>gCa		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.							167	135	146					12																	100478382		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100478382C>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1160G>C	12.37:g.100478382C>G	ENSP00000279907:p.Gly387Ala					UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.G37A	p.G387A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			9	1389	-			387					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1160G>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768579	0.31320	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973;ENST00000551980	T;T;T;T;T	0.41758	3.02;2.99;1.64;1.61;0.99	5.48	5.48	0.80851	.	0.240906	0.41500	D	0.000862	T	0.29126	0.0724	L	0.34521	1.04	0.39596	D	0.969652	B;B	0.34161	0.264;0.439	B;B	0.32465	0.054;0.146	T	0.08868	-1.0701	10	0.14656	T	0.56	-18.068	11.0841	0.48076	0.1433:0.7185:0.1382:0.0	.	387;387	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	A	387;37;387;37;37	ENSP00000279907:G387A;ENSP00000444824:G37A;ENSP00000349285:G387A;ENSP00000448226:G37A;ENSP00000449189:G37A	ENSP00000279907:G387A	G	-	2	0	UHRF1BP1L	99002513	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.631000	0.24568	2.742000	0.94016	0.650000	0.86243	GGA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		G	100478382	C	G	100478382	3	3	82	1	0	0	0	0	1	0	0	0	16966	855	30	5	3306	5	UHRF1BP1L	12	100478382	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	30491073	100478382	33373513	47	5575											
NOS1	4842	broad.mit.edu	37	chr12	117655934	117655934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcgtacgttcgcagggtGactccaaaaatatcctcatg	11	11	8	11	3	1	1	1	1	0	0	5	1	3	1	2	1	1	3	2	1	4	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:117655934G>A	ENST00000338101.4	-	28	4312	c.4308C>T	c.(4306-4308)gtC>gtT	p.V1436V	NOS1_ENST00000317775.6_Silent_p.V1402V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCGCAGGGTGACTCCAAAAA	0.483																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4306-4308)gtC>gtT		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						307	300	302					12																	117655934		1949	4153	6102	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117655934G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4308C>T	12.37:g.117655934G>A						NOS1_uc021ren.1_Silent_p.V1066V|NOS1_uc021reo.1_Silent_p.V1066V|NOS1_uc001twm.2_Silent_p.V1402V	p.V1436V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	28	5019	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1402						Silent	SNP	ENST00000338101.4	37	c.4308C>T	CCDS55890.1																																																																																				0.483	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117655934	G	A	117655934	2	1	82	1	0	0	0	0	0	0	0	1	10541	1277	45	3		3	NOS1	12	117655934	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	17177552	117655934	16195961	48	5576											
SOCS4	122809	broad.mit.edu	37	chr14	55510054	55510054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaactgcaagatgccGtggggcagtgttttccaata	13	9	11	8	1	0	2	0	0	0	2	1	2	1	2	2	2	4	3	2	2	5	3	rs199994483		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:55510054G>A	ENST00000395472.2	+	2	627	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	SOCS4_ENST00000555846.1_Missense_Mutation_p.V99M|SOCS4_ENST00000339298.2_Missense_Mutation_p.V99M	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	99					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GCAAGATGCCGTGGGGCAGTG	0.423																																						uc021rti.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(295-297)Gtg>Atg		Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	0,4406		0,0,2203	98	96	97		295,295	3.3	1	14		97	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SOCS4	NM_080867.2,NM_199421.1	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	99/441,99/441	55510054	2,13004	2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510054G>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.295G>A	14.37:g.55510054G>A	ENSP00000378855:p.Val99Met					SOCS4_uc001xbo.3_Missense_Mutation_p.V99M|SOCS4_uc001xbp.3_Missense_Mutation_p.V99M	p.V99M	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			0	295	+			99						Missense_Mutation	SNP	ENST00000395472.2	37	c.295G>A	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056277	0.19907	0.0	2.33E-4	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.40225	1.04;1.04;1.04	5.48	3.33	0.38152	.	0.153896	0.42294	N	0.000729	T	0.34571	0.0902	L	0.46157	1.445	0.37896	D	0.930891	B	0.19445	0.036	B	0.17722	0.019	T	0.27571	-1.0070	10	0.30854	T	0.27	-6.1362	11.7116	0.51628	0.215:0.0:0.785:0.0	.	99	Q8WXH5	SOCS4_HUMAN	M	99	ENSP00000378855:V99M;ENSP00000452522:V99M;ENSP00000341327:V99M	ENSP00000341327:V99M	V	+	1	0	SOCS4	54579807	0.998000	0.40836	0.955000	0.39395	0.996000	0.88848	2.693000	0.47027	1.326000	0.45319	0.655000	0.94253	GTG		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			A	55510054	G	A	55510054	3	1	82	1	0	0	0	0	1	0	0	0	14916	1145	40	1	297	1	SOCS4	14	55510054	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		55510054	51839486	49	5577											
DACT1	51339	broad.mit.edu	37	chr14	59113060	59113060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggctccaccggggccaCaggaacatgggcgtcgtgaa	9	5	15	12	3	1	1	1	1	0	0	3	2	2	2	3	5	1	1	3	5	2	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:59113060C>A	ENST00000335867.4	+	4	1743	c.1719C>A	c.(1717-1719)caC>caA	p.H573Q	DACT1_ENST00000541264.2_Missense_Mutation_p.H292Q|DACT1_ENST00000395153.3_Missense_Mutation_p.H536Q|DACT1_ENST00000556859.1_Missense_Mutation_p.H292Q			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	573					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCGGGGCCACAGGAACATGG	0.657																																						uc001xdw.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1717-1719)caC>caA		Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.							22	25	24					14																	59113060		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113060C>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1719C>A	14.37:g.59113060C>A	ENSP00000337439:p.His573Gln					DACT1_uc010trv.2_Missense_Mutation_p.H292Q|DACT1_uc001xdx.3_Missense_Mutation_p.H536Q|DACT1_uc010trw.2_Missense_Mutation_p.H292Q	p.H573Q	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			3	1883	+			573					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1719C>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	4.159	0.027967	0.08054	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.07	1.09	0.20402	.	0.639390	0.15174	N	0.276476	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.28178	0.095;0.202	B;B	0.26416	0.069;0.043	T	0.22452	-1.0216	10	0.15499	T	0.54	-0.1385	5.7262	0.18015	0.2518:0.5586:0.1216:0.068	.	536;573	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	Q	292;292;536;573;292	ENSP00000451598:H292Q;ENSP00000378581:H292Q;ENSP00000378582:H536Q;ENSP00000337439:H573Q;ENSP00000442850:H292Q	ENSP00000337439:H573Q	H	+	3	2	DACT1	58182813	0.002000	0.14202	0.000000	0.03702	0.148000	0.21650	1.308000	0.33528	-0.070000	0.12908	0.563000	0.77884	CAC		0.657	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113060	C	A	59113060	3	1	82	1	0	0	0	0	1	0	0	0	4222	477	17	5	1733	5	DACT1	14	59113060	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	3603006	59113060	48236480	50	5578											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagggccctgcaaagcccGcaatgcctttcgaatgaggt	10	8	11	12	2	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	3	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612																																						uc001xka.2																			0		p.R202L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(604-606)Cgg>Tgg		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							83	83	83					14																	68274397		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274397G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.604C>T	14.37:g.68274397G>A	ENSP00000251119:p.Arg202Trp					ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.2_Missense_Mutation_p.R202W	p.R202W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	743	-			202					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.604C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564494	0.27915	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31769	1.63;1.48	5.51	-0.51	0.11973	.	0.809720	0.11201	N	0.588792	T	0.32882	0.0844	L	0.44542	1.39	0.09310	N	1	D;D;D	0.69078	0.997;0.995;0.985	P;P;B	0.50708	0.533;0.648;0.232	T	0.27739	-1.0065	10	0.87932	D	0	-0.0041	9.6873	0.40107	0.0:0.156:0.3128:0.5312	.	202;202;202	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	202	ENSP00000251119:R202W;ENSP00000450603:R202W	ENSP00000251119:R202W	R	-	1	2	ZFYVE26	67344150	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.813000	0.27225	-0.237000	0.09739	-2.067000	0.00394	CGG		0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68274397	G	A	68274397	3	1	82	1	0	0	0	0	1	0	0	0	17665	1086	38	1	7167	1	ZFYVE26	14	68274397	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	9161337	68274397	39075143	51	5579											
CKB	1152	broad.mit.edu	37	chr14	103986328	103986328	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagaagcccaggcggTcagcgttggagacgtcgaag	9	6	15	11	4	2	2	1	1	1	2	3	5	2	2	2	3	2	1	2	3	2	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:103986328T>G	ENST00000348956.2	-	8	1376	c.1019A>C	c.(1018-1020)gAc>gCc	p.D340A		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	340	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCCCAGGCGGTCAGCGTTGGA	0.662																																					Esophageal Squamous(186;2492 2823 49929 50127)	uc001ynf.2																			0				lung(2)|prostate(1)	3						c.(1018-1020)gAc>gCc		Homo sapiens creatine kinase, brain (CKB), mRNA.	Creatine(DB00148)						42	37	39					14																	103986328		2201	4299	6500	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986328T>G		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.1019A>C	14.37:g.103986328T>G	ENSP00000299198:p.Asp340Ala						p.D340A	NM_001823	NP_001814	P12277	KCRB_HUMAN	Epithelial(46;0.14)		7	1125	-		Melanoma(154;0.155)	340			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.1019A>C	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533744	0.85812	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	T;T	0.10860	2.83;2.83	4.95	4.95	0.65309	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.03503	-1.1030	10	0.41790	T	0.15	-14.6071	14.6166	0.68552	0.0:0.0:0.0:1.0	.	340	P12277	KCRB_HUMAN	A	340;305;138	ENSP00000299198:D340A;ENSP00000451426:D138A	ENSP00000299198:D340A	D	-	2	0	CKB	103056081	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.876000	0.87215	1.853000	0.53794	0.379000	0.24179	GAC		0.662	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			G	103986328	T	G	103986328	3	3	82	1	0	0	0	0	1	0	0	0	3446	1667	58	5	130	5	CKB	14	103986328	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	35711931	103986328	3363212	52	5580											
GJD2	57369	broad.mit.edu	37	chr15	35044812	35044812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacagccagcttgatcttgCgccatcccaggtggttgagt	7	10	12	12	1	1	2	0	2	1	0	2	2	2	2	3	2	3	3	3	2	0	3	rs376923298		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:35044812C>T	ENST00000290374.4	-	2	1309	c.833G>A	c.(832-834)cGc>cAc	p.R278H	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	278					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTGATCTTGCGCCATCCCAG	0.512																																						uc001zis.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(832-834)cGc>cAc		Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.		C	HIS/ARG	0,4402		0,0,2201	128	105	113		833	5.9	1	15		113	1,8595	1.2+/-3.3	0,1,4297	no	missense	GJD2	NM_020660.1	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	278/322	35044812	1,12997	2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35044812C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.833G>A	15.37:g.35044812C>T	ENSP00000290374:p.Arg278His					AK092087_uc001zit.1_5'Flank	p.R278H	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	1	833	-		all_lung(180;9.67e-07)	278					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.833G>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510511	0.85389	0.0	1.16E-4	ENSG00000159248	ENST00000290374	D	0.98249	-4.82	5.86	5.86	0.93980	.	0.089867	0.43416	D	0.000568	D	0.97349	0.9133	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.53689	0.732	D	0.97755	1.0217	10	0.56958	D	0.05	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	278	Q9UKL4	CXD2_HUMAN	H	278	ENSP00000290374:R278H	ENSP00000290374:R278H	R	-	2	0	GJD2	32832104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGC		0.512	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			T	35044812	C	T	35044812	3	4	82	1	0	0	0	0	1	0	0	0	6417	768	27	1	136	1	GJD2	15	35044812	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		35044812	67486580	53	5581											
THSD4	79875	broad.mit.edu	37	chr15	71535188	71535188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccaggtcccccaacatgGgcctttgtaccaaagtgaca	11	7	8	15	0	0	1	0	1	0	0	1	1	1	1	6	2	2	1	6	2	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:71535188G>A	ENST00000355327.3	+	5	799	c.665G>A	c.(664-666)gGg>gAg	p.G222E	THSD4_ENST00000261862.6_Missense_Mutation_p.G222E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	222	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAACATGGGCCTTTGTAC	0.597																																						uc002atb.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(664-666)gGg>gAg		Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.							65	70	68					15																	71535188		1986	4170	6156	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535188G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.665G>A	15.37:g.71535188G>A	ENSP00000347484:p.Gly222Glu					THSD4_uc002atd.1_5'UTR	p.G222E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			3	744	+			222			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.665G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287400	0.00248	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.60299	0.2;0.2	5.63	1.48	0.22813	.	0.250021	0.39475	N	0.001357	T	0.35653	0.0939	L	0.29908	0.895	0.09310	N	1	B	0.27823	0.19	B	0.28139	0.086	T	0.32107	-0.9919	10	0.02654	T	1	.	7.9787	0.30170	0.1276:0.2495:0.6229:0.0	.	222	Q6ZMP0	THSD4_HUMAN	E	222	ENSP00000347484:G222E;ENSP00000261862:G222E	ENSP00000261862:G222E	G	+	2	0	THSD4	69322242	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	1.533000	0.36040	0.021000	0.15133	0.563000	0.77884	GGG		0.597	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		A	71535188	G	A	71535188	3	1	82	1	0	0	0	0	1	0	0	0	15875	1232	43	3	679	3	THSD4	15	71535188	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	36490376	71535188	30996204	54	5582											
KRT27	342574	broad.mit.edu	37	chr17	38938701	38938701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagagccagtgcccccGcaagagccaagtctcctgga	10	5	10	16	1	2	2	1	0	1	2	3	3	2	3	5	1	3	1	5	1	2	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr17:38938701G>A	ENST00000301656.3	-	1	85	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGTGCCCCCGCAAGAGCCAA	0.582																																						uc002hvg.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(43-45)tgC>tgT		Homo sapiens keratin 27 (KRT27), mRNA.							34	34	34					17																	38938701		2202	4299	6501	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938701G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.45C>T	17.37:g.38938701G>A							p.C15C	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			0	86	-		Breast(137;0.000812)	15			Gly-rich.|Head.			Silent	SNP	ENST00000301656.3	37	c.45C>T	CCDS11375.1																																																																																				0.582	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		A	38938701	G	A	38938701	2	1	82	1	0	0	0	0	0	0	0	1	8464	1079	38	1		1	KRT27	17	38938701	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08		38938701	42256509	55	5583											
MYO5B	4645	broad.mit.edu	37	chr18	47352977	47352977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgctgagggtcattcCgctcttgtagttgtgcctat	5	15	12	9	1	2	1	1	1	1	0	3	1	3	1	2	1	2	6	2	1	2	6	rs201080553		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:47352977C>T	ENST00000285039.7	-	40	5710	c.5411G>A	c.(5410-5412)cGg>cAg	p.R1804Q	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.R127Q|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.R919Q|MYO5B_ENST00000592688.1_Missense_Mutation_p.R374Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1804					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGTCATTCCGCTCTTGTAG	0.408																																						uc002leb.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5410-5412)cGg>cAg		Homo sapiens myosin VB (MYO5B), mRNA.							141	126	131					18																	47352977		1898	4125	6023	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47352977C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5411G>A	18.37:g.47352977C>T	ENSP00000285039:p.Arg1804Gln					MYO5B_uc002ldz.3_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	p.R1804Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	39	5699	-			1804					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5411G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473799	0.84640	.	.	ENSG00000167306	ENST00000285039;ENST00000356732;ENST00000324581	D;T	0.87491	-2.26;2.23	5.37	3.6	0.41247	.	0.145674	0.44285	D	0.000466	D	0.90535	0.7034	L	0.56124	1.755	0.43430	D	0.995597	D;D	0.89917	0.977;1.0	B;D	0.83275	0.425;0.996	D	0.89045	0.3451	10	0.44086	T	0.13	.	11.4466	0.50127	0.0:0.8539:0.0:0.1461	.	1804;919	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	1804;676;919	ENSP00000285039:R1804Q;ENSP00000315531:R919Q	ENSP00000285039:R1804Q	R	-	2	0	MYO5B	45606975	0.989000	0.36119	0.999000	0.59377	0.924000	0.55760	6.808000	0.75206	0.851000	0.35264	0.650000	0.86243	CGG		0.408	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47352977	C	T	47352977	3	4	82	1	0	0	0	0	1	0	0	0	10079	652	23	2	139	2	MYO5B	18	47352977	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		47352977	30724271	56	5584											
RNF152	220441	broad.mit.edu	37	chr18	59483671	59483672	+	Frame_Shift_Del	DEL	AG	AG	-																															aacagatctgacattccagcAgagagtcctgggacagcgtc																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:59483671_59483672delAG	ENST00000312828.3	-	2	1124_1125	c.25_26delCT	c.(25-27)ctgfs	p.L10fs		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	10					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACATTCCAGCAGAGAGTCCTGG	0.594																																						uc002lih.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(25-27)ctgfs		Homo sapiens ring finger protein 152 (RNF152), mRNA.																																				SO:0001589	frameshift_variant	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483671_59483672delAG	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"RING-type (C3HC4) zinc fingers"	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.25_26delCT	18.37:g.59483675_59483676delAG	ENSP00000316628:p.Leu10fs					RNF152_uc021ula.1_Frame_Shift_Del_p.L9fs	p.L9fs	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN			1	437_438	-		Colorectal(73;0.186)	9					B3KV99|Q52LA4	Frame_Shift_Del	DEL	ENST00000312828.3	37	c.25_26delCT	CCDS11978.1																																																																																				0.594	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		-	59483672	AG	-	59483671	7	5	82	1	0	1	0	1	0	0	0	0	13453	188	7	0	589	0	RNF152	18	59483671	Frame_Shift_Del	DEL	AG	TCGA-06-2565-01A-01D-1494-08	12130694	59483671	18593577	57	5585											
ZNF407	55628	broad.mit.edu	37	chr18	72345779	72345779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctggtaaaaagaatgCtggctcagcagtgaccatgt	13	9	12	7	0	1	3	1	2	0	1	1	3	1	3	1	2	3	5	1	2	5	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:72345779C>T	ENST00000299687.5	+	1	2804	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V	ZNF407_ENST00000577538.1_Missense_Mutation_p.A935V|ZNF407_ENST00000309902.6_Missense_Mutation_p.A935V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A935V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	935					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGAATGCTGGCTCAGCA	0.453																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2803-2805)gCt>gTt		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							63	64	63					18																	72345779		1909	4128	6037	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345779C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2804C>T	18.37:g.72345779C>T	ENSP00000299687:p.Ala935Val					ZNF407_uc010xfc.2_Missense_Mutation_p.A935V|ZNF407_uc010dqu.2_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	p.A935V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	0	2857	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	935					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2804C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	1.441	-0.567637	0.03910	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09255	3.0;3.46	5.75	2.92	0.33932	.	0.520911	0.17579	N	0.169188	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.001	T	0.34403	-0.9830	10	0.52906	T	0.07	.	6.6718	0.23072	0.0:0.5541:0.268:0.1778	.	935;935;935	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	935	ENSP00000299687:A935V;ENSP00000310359:A935V	ENSP00000299687:A935V	A	+	2	0	ZNF407	70474767	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.589000	0.23939	-0.252000	0.09528	-0.385000	0.06624	GCT		0.453	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72345779	C	T	72345779	3	4	82	1	0	0	0	0	1	0	0	0	17884	797	28	3	2806	3	ZNF407	18	72345779	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	12862108	72345779	5731469	58	5586											
TCF3	6929	broad.mit.edu	37	chr19	1623996	1623996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaccttcttgggctgcGtgtctgttagaagcaaaagg	8	11	13	9	2	2	1	0	0	2	1	3	2	3	2	2	3	2	3	2	3	4	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:1623996G>A	ENST00000262965.5	-	8	847	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCF3_ENST00000395423.3_Missense_Mutation_p.T117M|TCF3_ENST00000588136.1_Missense_Mutation_p.T168M|TCF3_ENST00000344749.5_Missense_Mutation_p.T168M|TCF3_ENST00000453954.2_Missense_Mutation_p.T84M	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T168M(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGGCTGCGTGTCTGTTAG	0.612			T	"PBX1, HLF, TFPT"	pre B-ALL																																	uc002ltr.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		1	Substitution - Missense(1)	p.T168M(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(502-504)aCg>aTg		Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.							55	59	57					19																	1623996		2203	4299	6502	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1623996G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.503C>T	19.37:g.1623996G>A	ENSP00000262965:p.Thr168Met					TCF3_uc002lto.3_5'Flank|TCF3_uc002ltt.4_Missense_Mutation_p.T168M|TCF3_uc002ltq.3_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	p.T168M	NM_003200	NP_003191	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	572	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	168					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.503C>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473338	0.43942	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.46819	0.86;0.86;0.86	4.12	3.03	0.35002	.	2.621480	0.01879	N	0.037713	T	0.56978	0.2022	L	0.50333	1.59	0.09310	N	1	D;D;D	0.67145	0.996;0.992;0.981	P;P;P	0.54270	0.747;0.475;0.66	T	0.42849	-0.9427	10	0.34782	T	0.22	-27.4212	9.0781	0.36534	0.0:0.3785:0.6215:0.0	.	168;168;117	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	M	168;168;168;117	ENSP00000262965:T168M;ENSP00000344375:T168M;ENSP00000378813:T117M	ENSP00000262965:T168M	T	-	2	0	TCF3	1574996	0.018000	0.18449	0.048000	0.18961	0.236000	0.25371	2.171000	0.42453	1.853000	0.53794	0.313000	0.20887	ACG		0.612	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1623996	G	A	1623996	3	1	82	1	0	0	0	0	1	0	0	0	15691	1145	40	1	1740	1	TCF3	19	1623996	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		1623996	57504987	59	5587											
ZNF506	440515	broad.mit.edu	37	chr19	19905675	19905675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattcgtcacatttgtAgggtacatctccagtatgaa	11	12	8	10	1	2	1	1	1	1	0	4	1	2	1	2	1	1	3	2	1	4	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:19905675A>G	ENST00000540806.2	-	4	1109	c.1021T>C	c.(1021-1023)Tac>Cac	p.Y341H	CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y309H|ZNF506_ENST00000443905.2_Missense_Mutation_p.Y341H|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCACATTTGTAGGGTACATCT	0.408																																						uc010eci.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(1021-1023)Tac>Cac		Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.							79	84	82					19																	19905675		2179	4287	6466	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905675A>G	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1021T>C	19.37:g.19905675A>G	ENSP00000440625:p.Tyr341His					ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	p.Y341H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN			3	1169	-			341					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1021T>C	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	14.92	2.678704	0.47886	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.21734	1.99;1.99;1.99	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27866	0.0686	N	0.26162	0.8	0.24761	N	0.992929	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09997	-1.0649	9	0.66056	D	0.02	.	5.7935	0.18373	1.0:0.0:0.0:0.0	.	341;309	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	H	341;341;309	ENSP00000393835:Y341H;ENSP00000440625:Y341H;ENSP00000408892:Y309H	ENSP00000393835:Y341H	Y	-	1	0	ZNF506	19766675	0.057000	0.20700	0.205000	0.23548	0.170000	0.22686	3.609000	0.54117	0.363000	0.24346	0.352000	0.21897	TAC		0.408	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		G	19905675	A	G	19905675	3	3	82	1	0	0	0	0	1	0	0	0	17949	420	15	4	317	4	ZNF506	19	19905675	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	18281679	19905675	39223308	60	5588											
CEACAM20	125931	broad.mit.edu	37	chr19	45015149	45015149	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgagtgggggcatcagaGgtttgggtggtggcttccag	6	11	18	6	0	2	2	1	1	1	1	3	2	3	2	1	6	0	3	1	6	0	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:45015149G>T	ENST00000454753.1	-	0	1955							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGCATCAGAGGTTTGGGTGG	0.507																																						uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(1675-1677)cCt>cAt		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							89	93	92					19																	45015149		1902	4110	6012			125931					integral to membrane		g.chr19:45015149G>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015149G>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	p.P559H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			11	1692	-		Prostate(69;0.0352)	559						Missense_Mutation	SNP	ENST00000454753.1	37	c.1676C>A																																																																																					0.507	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		T	45015149	G	T	45015149	1	4	82	0	1	0	0	0	0	0	0	0	3191	1000	35	5		5	CEACAM20	19	45015149	RNA	SNP	G	TCGA-06-2565-01A-01D-1494-08	25109474	45015149	14113834	61	5589											
TFPT	29844	broad.mit.edu	37	chr19	54617886	54617886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatttaattcccgctggCgccgccgccgaccccgggct	4	8	12	17	7	0	0	0	0	0	0	1	2	1	0	6	2	1	2	6	2	1	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:54617886C>T	ENST00000391759.1	-	2	623	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TFPT_ENST00000391758.1_Missense_Mutation_p.R64H|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391757.1_Missense_Mutation_p.R73H|PRPF31_ENST00000419967.1_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	73					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCCCGCTGGCGCCGCCGCCG	0.652			T	TCF3	pre-B ALL																																	uc010yej.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(217-219)cGc>cAc		Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.							51	61	57					19																	54617886		2202	4300	6502	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54617886C>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.218G>A	19.37:g.54617886C>T	ENSP00000375639:p.Arg73His					TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	p.R73H	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN			1	624	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		73						Missense_Mutation	SNP	ENST00000391759.1	37	c.218G>A	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999893	0.93227	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000012	T	0.67173	0.2865	L	0.40543	1.245	0.54753	D	0.999984	D	0.89917	1.0	D	0.65010	0.931	T	0.69672	-0.5082	9	0.66056	D	0.02	-7.3712	16.3059	0.82848	0.0:1.0:0.0:0.0	.	73	P0C1Z6	TFPT_HUMAN	H	73;64;73	.	ENSP00000375637:R73H	R	-	2	0	TFPT	59309698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.272000	0.51616	2.516000	0.84829	0.563000	0.77884	CGC		0.652	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		T	54617886	C	T	54617886	3	4	82	1	0	0	0	0	1	0	0	0	15807	768	27	1	563	1	TFPT	19	54617886	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	9602737	54617886	4511097	62	5590											
DNTTIP1	116092	broad.mit.edu	37	chr20	44431987	44431987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatggaaaccaaaatcCtgtgaaccaattcgccggga	15	6	10	10	2	0	2	0	1	0	1	2	4	1	4	4	2	3	1	4	2	5	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr20:44431987C>A	ENST00000372622.3	+	8	641	c.573C>A	c.(571-573)tcC>tcA	p.S191S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	191						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AACCAAAATCCTGTGAACCAA	0.493																																						uc002xpk.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(571-573)tcC>tcA		Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.							84	73	77					20																	44431987		2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44431987C>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.573C>A	20.37:g.44431987C>A							p.S191S	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			7	641	+		Myeloproliferative disorder(115;0.0122)	191					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.573C>A	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.646|9.646	1.140216|1.140216	0.21205|0.21205	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000435014	.|.	.|.	.|.	5.27|5.27	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56129|0.56129	-0.8030|-0.8030	4|4	.|.	.|.	.|.	-17.0863|-17.0863	8.0765|8.0765	0.30720|0.30720	0.0:0.8071:0.0:0.1929|0.0:0.8071:0.0:0.1929	.|.	.|.	.|.	.|.	M|H	142|118	.|.	.|.	L|P	+|+	1|2	2|0	DNTTIP1|DNTTIP1	43865394|43865394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.264000|1.264000	0.33015|0.33015	1.379000|1.379000	0.46325|0.46325	0.467000|0.467000	0.42956|0.42956	CTG|CCT		0.493	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		A	44431987	C	A	44431987	2	1	82	1	0	0	0	0	0	0	0	1	4681	668	24	5		5	DNTTIP1	20	44431987	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		44431987	18593533	63	5591											
UMODL1	89766	broad.mit.edu	37	chr21	43539379	43539379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagctgcatttctcacCgccttccagaccgtgcctct	5	12	8	16	2	3	1	2	0	2	1	5	1	4	1	5	0	3	2	5	0	0	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:43539379C>T	ENST00000408910.2	+	15	2634	c.2634C>T	c.(2632-2634)acC>acT	p.T878T	UMODL1_ENST00000400427.1_Silent_p.T934T|UMODL1_ENST00000408989.2_Silent_p.T1006T|UMODL1_ENST00000400424.2_Silent_p.T806T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	878	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CATTTCTCACCGCCTTCCAGA	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3016-3018)acC>acT		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							268	280	276					21																	43539379		2188	4279	6467	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43539379C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2634C>T	21.37:g.43539379C>T						UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zaf.1_Silent_p.T878T|UMODL1_uc002zal.1_5'Flank	p.T1006T	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			13	3018	+			878			ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3018C>T	CCDS42936.1																																																																																				0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43539379	C	T	43539379	2	4	82	1	0	0	0	0	0	0	0	1	16977	639	23	2		2	UMODL1	21	43539379	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		43539379	4590516	64	5592											
DNMT3L	29947	broad.mit.edu	37	chr21	45679526	45679526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctaccttacatggggCgcagatccctccctcaaaca	9	8	7	17	1	1	1	1	0	0	1	3	1	3	1	5	2	4	1	5	2	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:45679526C>T	ENST00000418993.1	-	4	703	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A74T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	74	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTACATGGGGCGCAGATCCCT	0.542																																						uc002zeg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(220-222)Gcc>Acc		Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.							81	69	73					21																	45679526		2201	4299	6500	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45679526C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.220G>A	21.37:g.45679526C>T	ENSP00000412862:p.Ala74Thr					DNMT3L_uc002zeh.1_Missense_Mutation_p.A74T	p.A74T	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	3	704	-			74			ADD.		E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.220G>A	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	0.121	-1.125997	0.01770	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	D;D;T	0.82893	-1.66;-1.65;-1.39	4.36	0.0271	0.14153	.	0.697426	0.13789	N	0.362654	T	0.64159	0.2573	L	0.31207	0.915	0.09310	N	1	B;B	0.24132	0.098;0.098	B;B	0.10450	0.005;0.005	T	0.42932	-0.9422	10	0.15066	T	0.55	-13.3594	1.3013	0.02080	0.175:0.4536:0.1705:0.2008	.	74;74	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	T	74;74;59	ENSP00000270172:A74T;ENSP00000412862:A74T;ENSP00000400242:A59T	ENSP00000270172:A74T	A	-	1	0	DNMT3L	44503954	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.166000	0.09954	0.179000	0.19938	-0.140000	0.14226	GCC		0.542	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		T	45679526	C	T	45679526	3	4	82	1	0	0	0	0	1	0	0	0	4678	768	27	1	979	1	DNMT3L	21	45679526	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	2140147	45679526	2450369	65	5593											
INPP5J	27124	broad.mit.edu	37	chr22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggtaacaagggtggcGtgagcgtgcgcctggcggcc	6	6	18	11	4	0	1	0	1	0	0	0	1	0	1	3	5	3	1	3	5	3	2	rs529365616		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31523358G>A	ENST00000331075.5	+	6	1676	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_ENST00000412277.2_Missense_Mutation_p.V476M|INPP5J_ENST00000400294.2_Missense_Mutation_p.V176M|INPP5J_ENST00000404390.3_Missense_Mutation_p.V175M|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Missense_Mutation_p.V176M	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	543	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		14720	0		0	False		,,,				2504	0					uc003aju.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1627-1629)Gtg>Atg		Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.							37	40	39					22																	31523358		2150	4250	6400	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31523358G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1627G>A	22.37:g.31523358G>A	ENSP00000333262:p.Val543Met					INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.V175M|INPP5J_uc003ajv.4_Missense_Mutation_p.V176M|INPP5J_uc003ajs.4_Missense_Mutation_p.V176M|INPP5J_uc011alk.2_Missense_Mutation_p.V476M|INPP5J_uc010gwg.3_Missense_Mutation_p.V108M	p.V543M	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			5	1719	+			543			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1627G>A		.	.	.	.	.	.	.	.	.	.	G	29.2	4.987729	0.93106	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	4.77	4.77	0.60923	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.98664	0.9552	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99809	1.1040	10	0.87932	D	0	.	18.2124	0.89874	0.0:0.0:1.0:0.0	.	543;175	Q15735;Q15735-3	PI5PA_HUMAN;.	M	543;476;176;176;175	ENSP00000333262:V543M;ENSP00000392924:V476M;ENSP00000383150:V176M;ENSP00000384596:V176M;ENSP00000384534:V175M	ENSP00000333262:V543M	V	+	1	0	INPP5J	29853358	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.613000	0.82986	2.363000	0.80096	0.655000	0.94253	GTG		0.632	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		A	31523358	G	A	31523358	3	1	82	1	0	0	0	0	1	0	0	0	7759	1145	40	1	545	1	INPP5J	22	31523358	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		31523358	19781208	66	5594											
SFI1	9814	broad.mit.edu	37	chr22	31957290	31957290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggtgtggtggagcaCgtggaggcagcgactaggac	9	6	18	8	2	1	0	1	0	0	0	1	4	1	3	0	6	2	2	0	6	1	1	rs199982480	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31957290C>T	ENST00000400288.2	+	8	782	c.677C>T	c.(676-678)aCg>aTg	p.T226M	SFI1_ENST00000540643.1_Missense_Mutation_p.T202M|SFI1_ENST00000443326.1_Missense_Mutation_p.T144M|SFI1_ENST00000414585.1_Missense_Mutation_p.T73M|SFI1_ENST00000432498.1_Missense_Mutation_p.T226M|SFI1_ENST00000443011.1_Missense_Mutation_p.T73M|SFI1_ENST00000400289.1_Missense_Mutation_p.T144M	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	226					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGTGGAGCACGTGGAGGCAG	0.572											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	2	0.000399361	0	0	5008	,	,		20125	0.002		0	False		,,,				2504	0					uc003ale.3																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(676-678)aCg>aTg		Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.		C	MET/THR,MET/THR	0,4270		0,0,2135	79	82	81		677,677	-2.1	0.1	22		81	1,8503		0,1,4251	no	missense,missense	SFI1	NM_001007467.1,NM_014775.2	81,81	0,1,6386	TT,TC,CC		0.0118,0.0,0.0078	benign,benign	226/1243,226/1212	31957290	1,12773	2135	4252	6387	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31957290C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.677C>T	22.37:g.31957290C>T	ENSP00000383145:p.Thr226Met		OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	828	SFI1_uc003ald.1_Missense_Mutation_p.T202M|SFI1_uc003alf.3_Missense_Mutation_p.T226M|SFI1_uc003alg.3_Missense_Mutation_p.T144M|SFI1_uc011alp.2_Missense_Mutation_p.T144M|SFI1_uc011alq.2_Missense_Mutation_p.T202M|SFI1_uc003alh.3_Non-coding_Transcript	p.T226M	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			7	1070	+			226					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.677C>T	CCDS43004.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	12.62	1.993332	0.35131	0.0	1.18E-4	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000450787	T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;2.84;2.85;1.53;1.53;1.92	5.14	-2.14	0.07123	.	1.387810	0.04702	N	0.416099	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.20988	0.002;0.012;0.034;0.012;0.009;0.05	B;B;B;B;B;B	0.12837	0.002;0.008;0.008;0.005;0.003;0.008	T	0.17992	-1.0351	10	0.39692	T	0.17	.	1.1554	0.01795	0.2847:0.2796:0.0889:0.3467	.	202;144;144;226;226;202	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	M	226;202;144;202;73;73;144;226;140	ENSP00000402679:T226M;ENSP00000443025:T202M;ENSP00000416469:T144M;ENSP00000397148:T73M;ENSP00000401199:T73M;ENSP00000383146:T144M;ENSP00000383145:T226M;ENSP00000389364:T140M	ENSP00000383145:T226M	T	+	2	0	SFI1	30287290	0.009000	0.17119	0.070000	0.20053	0.522000	0.34438	-0.142000	0.10311	-0.201000	0.10284	-1.650000	0.00758	ACG		0.572	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		T	31957290	C	T	31957290	3	4	82	1	0	0	0	0	1	0	0	0	14156	536	19	1	703	1	SFI1	22	31957290	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	433932	31957290	19347276	67	5595											
GTSE1	51512	broad.mit.edu	37	chr22	46725343	46725343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcctctcatcgactTctgcgataccccagaagcac	9	10	6	16	2	2	2	1	1	2	1	5	4	3	2	4	0	3	1	4	0	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:46725343T>C	ENST00000454366.1	+	11	2227	c.2015T>C	c.(2014-2016)tTc>tCc	p.F672S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	653					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCATCGACTTCTGCGATACC	0.498																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(2014-2016)tTc>tCc		Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.							158	151	153					22																	46725343		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725343T>C	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2015T>C	22.37:g.46725343T>C	ENSP00000415430:p.Phe672Ser					GTSE1_uc011aqz.2_Missense_Mutation_p.F519S|GTSE1_uc003bhn.3_Non-coding_Transcript|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	p.F672S	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	10	2227	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	653					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.2015T>C	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948638	0.53186	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10573	2.86	4.91	4.91	0.64330	.	0.645821	0.15454	N	0.261503	T	0.27967	0.0689	M	0.72118	2.19	0.28682	N	0.905031	D	0.67145	0.996	P	0.61722	0.893	T	0.06643	-1.0815	10	0.59425	D	0.04	-8.862	11.2269	0.48888	0.0:0.0:0.0:1.0	.	653	Q9NYZ3	GTSE1_HUMAN	S	672;632	ENSP00000415430:F672S	ENSP00000354634:F632S	F	+	2	0	GTSE1	45104007	0.863000	0.29885	0.594000	0.28785	0.044000	0.14063	3.332000	0.52083	1.957000	0.56846	0.533000	0.62120	TTC		0.498	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		C	46725343	T	C	46725343	3	2	82	1	0	0	0	0	1	0	0	0	6885	1783	62	4	2053	4	GTSE1	22	46725343	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	14768053	46725343	4579223	68	5596											
CNKSR2	22866	broad.mit.edu	37	chrX	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T																															ttataattcagaattatggcINSttggaaacagaaaatctaaa																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:21450738_21450739insT	ENST00000379510.3	+	3	273_274	c.237_238insT	c.(238-240)ttgfs	p.L80fs	CNKSR2_ENST00000279451.4_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000425654.2_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000543067.1_Frame_Shift_Ins_p.L80fs	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	80					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307																																						uc004czx.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(235-240)ggcttgfs		Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21450738_21450739insT	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.239dupT	X.37:g.21450740_21450740dupT	ENSP00000368824:p.Leu80fs					CNKSR2_uc004czw.3_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.G79fs	p.G79fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			2	717_718	+			79					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Frame_Shift_Ins	INS	ENST00000379510.3	37	c.237_238insT	CCDS14198.1																																																																																				0.307	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		T	21450739	-	T	21450738	7	5	82	1	0	1	1	0	0	0	0	0	3607	784	28	0	247	0	CNKSR2	23	21450738	Frame_Shift_Ins	INS	-	TCGA-06-2565-01A-01D-1494-08		21450738	133819822	69	5597											
SMC1A	8243	broad.mit.edu	37	chrX	53430549	53430549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcttcctcaaactccCggatgttgcgcacaccaatc	8	12	5	16	2	2	0	1	0	1	0	5	1	4	1	4	1	2	2	4	1	2	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53430549C>T	ENST00000322213.4	-	15	2496	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	790			R -> Q (in CDLS2). {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:19701948}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R790Q(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCAAACTCCCGGATGTTGCG	0.517																																						uc004dsg.3																			2	Substitution - Missense(2)	p.R790Q(4)	central_nervous_system(2)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49	GRCh37	CM071099	SMC1A	M		c.(2368-2370)cGg>cAg		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							173	138	150					X																	53430549		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53430549C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2369G>A	X.37:g.53430549C>T	ENSP00000323421:p.Arg790Gln					SMC1A_uc011moe.2_Missense_Mutation_p.R768Q	p.R790Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			14	2438	-			790		R -> Q (in CDLS2).			O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.2369G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559366	0.96514	.	.	ENSG00000072501	ENST00000322213	T	0.78246	-1.16	4.58	4.58	0.56647	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91736	0.5400	10	0.62326	D	0.03	.	15.6293	0.76888	0.0:1.0:0.0:0.0	.	768;790	Q6MZR8;Q14683	.;SMC1A_HUMAN	Q	790	ENSP00000323421:R790Q	ENSP00000323421:R790Q	R	-	2	0	SMC1A	53447274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.609000	0.67661	2.290000	0.77057	0.523000	0.50628	CGG		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53430549	C	T	53430549	3	4	82	1	0	0	0	0	1	0	0	0	14781	652	23	2	1376	2	SMC1A	23	53430549	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	31979811	53430549	101840011	70	5598											
SMC1A	8243	broad.mit.edu	37	chrX	53438785	53438785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtctcgattgaatttctCcagctcctgggccagggtag	6	12	12	11	1	2	1	0	1	2	0	5	2	3	1	3	3	1	2	3	3	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53438785C>T	ENST00000322213.4	-	7	1307	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	SMC1A_ENST00000375340.6_Missense_Mutation_p.E160K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	394					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGAATTTCTCCAGCTCCTGG	0.498																																						uc004dsg.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1180-1182)Gag>Aag		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							154	133	140					X																	53438785		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53438785C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1180G>A	X.37:g.53438785C>T	ENSP00000323421:p.Glu394Lys					SMC1A_uc011moe.2_Missense_Mutation_p.E372K|SMC1A_uc011mof.2_Missense_Mutation_p.E160K	p.E394K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	1249	-			394					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1180G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623736	0.87460	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;T	0.79247	-1.25;3.3	4.75	4.75	0.60458	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.46670	1.46	0.80722	D	1	B;P;P	0.45348	0.046;0.551;0.856	B;B;P	0.46718	0.19;0.334;0.525	T	0.79420	-0.1811	10	0.51188	T	0.08	.	15.9469	0.79802	0.0:1.0:0.0:0.0	.	160;372;394	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	K	394;160	ENSP00000323421:E394K;ENSP00000364489:E160K	ENSP00000323421:E394K	E	-	1	0	SMC1A	53455510	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	7.518000	0.81795	2.099000	0.63709	0.600000	0.82982	GAG		0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53438785	C	T	53438785	3	4	82	1	0	0	0	0	1	0	0	0	14781	864	30	3	2597	3	SMC1A	23	53438785	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	8236	53438785	101831775	71	5599											
FRMD7	90167	broad.mit.edu	37	chrX	131212246	131212246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctgacccaaaaggaaaaCgaatagttttcatgtctgat	15	12	7	7	1	3	2	1	2	2	0	3	4	3	3	1	1	1	1	1	1	6	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:131212246C>T	ENST00000298542.4	-	12	1974	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H	FRMD7_ENST00000464296.1_Missense_Mutation_p.R585H|FRMD7_ENST00000370879.1_Missense_Mutation_p.R480H	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	600					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAAAGGAAAACGAATAGTTTT	0.428																																						uc004ewn.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1798-1800)cGt>cAt		Homo sapiens FERM domain containing 7 (FRMD7), mRNA.							96	87	90					X																	131212246		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212246C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1799G>A	X.37:g.131212246C>T	ENSP00000298542:p.Arg600His					FRMD7_uc022cdy.1_Missense_Mutation_p.R480H|FRMD7_uc011muy.2_Missense_Mutation_p.R585H	p.R600H	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			11	1977	-	Acute lymphoblastic leukemia(192;0.000127)		600					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1799G>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985480	0.18889	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.88509	-2.39;-2.03;-2.13	5.57	3.8	0.43715	.	0.360366	0.27725	N	0.018106	D	0.87493	0.6191	M	0.68593	2.085	0.20196	N	0.99992	B;B	0.23442	0.085;0.007	B;B	0.17433	0.018;0.004	T	0.75872	-0.3164	10	0.54805	T	0.06	.	14.6301	0.68650	0.0:0.8638:0.0:0.1362	.	585;600	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	H	480;600;585	ENSP00000359916:R480H;ENSP00000298542:R600H;ENSP00000417996:R585H	ENSP00000298542:R600H	R	-	2	0	FRMD7	131039927	1.000000	0.71417	0.637000	0.29366	0.619000	0.37552	0.868000	0.27982	0.182000	0.20032	-0.923000	0.02734	CGT		0.428	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		T	131212246	C	T	131212246	3	4	82	1	0	0	0	0	1	0	0	0	6055	536	19	1	349	1	FRMD7	23	131212246	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	77773461	131212246	24058314	72	5600											
MAP7D3	79649	broad.mit.edu	37	chrX	135301831	135301831	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcttttggaagatggtCtggaaagagacagtttggtt	10	15	12	4	0	3	2	1	0	2	2	3	5	3	4	0	4	0	2	0	4	2	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:135301831C>T	ENST00000316077.9	-	17	2707		c.e17-1		MAP7D3_ENST00000370661.1_Splice_Site|MAP7D3_ENST00000370663.5_Splice_Site|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3						microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATGGTCTGGAAAGAGA	0.418																																						uc004ezt.3																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.e17-1		Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.							194	173	180					X																	135301831		1922	4110	6032	SO:0001630	splice_region_variant	79649					cytoplasm|spindle		g.chrX:135301831C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2487-1G>A	X.37:g.135301831C>T						MAP7D3_uc004ezs.3_Splice_Site_p.R794_splice|MAP7D3_uc011mwc.2_Splice_Site_p.R811_splice|MAP7D3_uc010nsa.2_Intron	p.R829_splice	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			17	2708	-	Acute lymphoblastic leukemia(192;0.000127)		829					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Splice_Site	SNP	ENST00000316077.9	37	c.2487_splice	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687624	0.68157	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8287	0.46649	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP7D3	135129497	0.973000	0.33851	0.892000	0.35008	0.738000	0.42128	3.018000	0.49625	2.319000	0.78375	0.523000	0.50628	.		0.418	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		Intron	T	135301831	C	T	135301831	5	4	82	1	0	0	0	0	0	0	1	0	9269	927	32	3	152	3	MAP7D3	23	135301831	Splice_Site	SNP	C	TCGA-06-2565-01A-01D-1494-08	4089585	135301831	19968729	73	5601											
AFF2	2334	broad.mit.edu	37	chrX	148038125	148038125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaaaccagcccctaaGggcaaacgtaagcacaaggt	15	4	12	10	1	0	1	0	0	0	1	0	2	0	1	3	3	4	3	3	3	5	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:148038125G>A	ENST00000370460.2	+	11	3029	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	AFF2_ENST00000342251.3_Silent_p.K817K|AFF2_ENST00000286437.5_Silent_p.K491K|AFF2_ENST00000370457.5_Silent_p.K817K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	850					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCTAAGGGCAAACGTA	0.517																																						uc004fcp.3																			0		p.P849H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2548-2550)aaG>aaA		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							64	64	64					X																	148038125		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148038125G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2550G>A	X.37:g.148038125G>A						AFF2_uc004fcq.3_Silent_p.K840K|AFF2_uc004fcr.3_Silent_p.K811K|AFF2_uc011mxb.2_Silent_p.K815K|AFF2_uc004fcs.3_Silent_p.K817K|AFF2_uc011mxc.2_Silent_p.K491K	p.K850K	NM_002025	NP_002016	P51816	AFF2_HUMAN			10	3029	+	Acute lymphoblastic leukemia(192;6.56e-05)		850					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.2550G>A	CCDS14684.1																																																																																				0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148038125	G	A	148038125	2	1	82	1	0	0	0	0	0	0	0	1	357	991	35	3		3	AFF2	23	148038125	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	12736294	148038125	7232435	74	5602											
GBP4	115361	broad.mit.edu	37	chr1	89655829	89655829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtccagcagctcctggagCgtgtctgtggggagcctcag	6	8	15	12	2	2	0	1	0	1	0	4	2	4	2	3	3	4	2	3	3	0	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:89655829C>T	ENST00000355754.6	-	7	1186	c.1089G>A	c.(1087-1089)acG>acA	p.T363T		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	363						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTCCTGGAGCGTGTCTGTGG	0.577																																						uc001dnb.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1087-1089)acG>acA		Homo sapiens guanylate binding protein 4 (GBP4), mRNA.							81	76	78					1																	89655829		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655829C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1089G>A	1.37:g.89655829C>T							p.T363T	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	6	1205	-			363					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.1089G>A	CCDS721.1																																																																																				0.577	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		T	89655829	C	T	89655829	2	4	83	1	0	0	0	0	0	0	0	1	6276	755	27	1		1	GBP4	1	89655829	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		89655829	159594792	1	5603											
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggactcactgggtagatgGtattcgactccttcaggtta	9	12	11	9	1	2	1	2	0	0	1	4	3	3	2	1	4	0	3	1	4	3	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(2134-2136)tgG>tgT		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF10_uc010oxo.1_Missense_Mutation_p.W639C|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.W529C|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.W515C|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.W374C	p.W712C	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	17	2330	+	all_hematologic(923;0.032)		714						Missense_Mutation	SNP	ENST00000440491.2	37	c.2136G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		T	144825416	G	T	144825416	3	4	83	1	0	0	0	0	1	0	0	0	10199	1270	44	5	2202	5	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	55169587	144825416	104425205	2	5604											
TCHH	7062	broad.mit.edu	37	chr1	152082760	152082760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctcccagcagctgc	2	12	8	19	2	3	0	0	0	3	0	7	0	4	0	5	2	3	3	5	2	0	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:152082760G>A	ENST00000368804.1	-	2	2932	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	978	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttctccggttcctctcc	0.557																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2932-2934)cCg>cTg		Homo sapiens trichohyalin (TCHH), mRNA.							129	133	132					1																	152082760		1889	4118	6007	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082760G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2933C>T	1.37:g.152082760G>A	ENSP00000357794:p.Pro978Leu					TCHH_uc001ezp.2_Missense_Mutation_p.P978L	p.P978L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3205	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		978			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2933C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	4.546	0.101462	0.08731	.	.	ENSG00000159450	ENST00000368804	T	0.06608	3.28	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	9	0.29301	T	0.29	.	0.1387	0.00081	0.3568:0.1982:0.1602:0.2848	.	978	Q07283	TRHY_HUMAN	L	978	ENSP00000357794:P978L	ENSP00000357794:P978L	P	-	2	0	TCHH	150349384	0.000000	0.05858	0.002000	0.10522	0.127000	0.20565	-0.156000	0.10100	-0.948000	0.03668	-1.601000	0.00813	CCG		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		A	152082760	G	A	152082760	3	1	83	1	0	0	0	0	1	0	0	0	15697	1116	39	2	2902	2	TCHH	1	152082760	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	7257344	152082760	97167861	3	5605											
TOMM20	9804	broad.mit.edu	37	chr1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggtcacttcgtcttttgCggtcgaagtagatgcagtac	7	13	13	8	3	2	1	1	0	1	1	4	2	2	1	0	3	3	3	0	3	3	5	rs1130507		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597																																						uc001hwl.3																			0				lung(2)|prostate(1)	3						c.(76-78)cGc>cAc		Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast) (TOMM20), nuclear gene encoding mitochondrial protein, mRNA.							138	127	131					1																	235291954		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291954C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type II"	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.77G>A	1.37:g.235291954C>T	ENSP00000355566:p.Arg26His					SNORA14B_uc001hwm.1_5'Flank	p.R26H	NM_014765	NP_055580	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		0	303	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	26					A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.77G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559898	0.27827	.	.	ENSG00000173726	ENST00000366607	T	0.46451	0.87	4.95	2.01	0.26516	.	0.052748	0.64402	D	0.000001	T	0.29749	0.0743	L	0.45285	1.41	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.05699	-1.0869	10	0.24483	T	0.36	-0.4404	6.8598	0.24060	0.1329:0.6698:0.1279:0.0695	rs1130507;rs3189427	26	Q15388	TOM20_HUMAN	H	26	ENSP00000355566:R26H	ENSP00000355566:R26H	R	-	2	0	TOMM20	233358577	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.097000	0.76967	0.359000	0.24239	-0.304000	0.09214	CGC		0.597	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		T	235291954	C	T	235291954	3	4	83	1	0	0	0	0	1	0	0	0	16351	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	83209194	235291954	13958667	4	5606											
OR2M5	127059	broad.mit.edu	37	chr1	248308935	248308935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatcattgatgctgtagcGacattttccttctcctactg	8	15	7	11	1	2	1	1	1	1	0	4	2	3	1	2	0	3	3	2	0	3	6	rs138472974	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248308935G>A	ENST00000366476.1	+	1	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGCTGTAGCGACATTTTCCT	0.448																																						uc010pze.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(484-486)gcG>gcA		Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.		A		8,4398	825.2+/-416.5	0,8,2195	275	260	265		486	-3	0	1	dbSNP_134	265	0,8600		0,0,4300	no	coding-synonymous	OR2M5	NM_001004690.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		162/313	248308935	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308935G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.486G>A	1.37:g.248308935G>A							p.A162A	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		0	486	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162						Silent	SNP	ENST00000366476.1	37	c.486G>A	CCDS31105.1																																																																																				0.448	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248308935	G	A	248308935	2	1	83	1	0	0	0	0	0	0	0	1	11013	1045	37	2		2	OR2M5	1	248308935	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	13016981	248308935	941686	5	5607											
OR2M3	127062	broad.mit.edu	37	chr1	248367072	248367072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggatctggagagggtcgtCgcaaagcttttactacttgt	8	13	13	7	2	1	1	0	0	1	1	3	3	1	2	0	3	3	2	0	3	3	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248367072C>T	ENST00000456743.1	+	1	741	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R235C(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAGGGTCGTCGCAAAGCTTT	0.473																																						uc010pzg.2																			1	Substitution - Missense(1)	p.R235H(2)|p.R235C(2)	endometrium(1)	endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(703-705)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							259	247	251					1																	248367072		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367072C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.703C>T	1.37:g.248367072C>T	ENSP00000389625:p.Arg235Cys						p.R235C	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	703	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		235					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.703C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284719	0.10513	.	.	ENSG00000228198	ENST00000456743	T	0.00164	8.64	2.25	-1.67	0.08238	GPCR, rhodopsin-like superfamily (1);	1.276350	0.06104	U	0.665935	T	0.00144	0.0004	L	0.41961	1.31	0.09310	N	1	B	0.15930	0.015	B	0.18263	0.021	T	0.26643	-1.0097	10	0.87932	D	0	.	3.6007	0.08023	0.3259:0.457:0.0:0.2171	.	235	Q8NG83	OR2M3_HUMAN	C	235	ENSP00000389625:R235C	ENSP00000389625:R235C	R	+	1	0	OR2M3	246433695	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.671000	0.05250	-0.602000	0.05775	-1.595000	0.00837	CGC		0.473	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		T	248367072	C	T	248367072	3	4	83	1	0	0	0	0	1	0	0	0	11011	884	31	2	705	2	OR2M3	1	248367072	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	58137	248367072	883549	6	5608											
PROC	5624	broad.mit.edu	37	chr2	128177527	128177527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcctccagaatgtggcaGctcacaagcctcctgctgtt	8	10	10	13	0	1	1	1	0	0	1	3	1	3	1	4	1	4	4	4	1	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:128177527G>A	ENST00000234071.3	+	2	96	c.9G>A	c.(7-9)caG>caA	p.Q3Q	PROC_ENST00000409048.1_Silent_p.Q3Q|PROC_ENST00000422777.3_Silent_p.Q3Q|PROC_ENST00000453608.2_Silent_p.Q24Q	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	3					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAATGTGGCAGCTCACAAGCC	0.652																																						uc002tol.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(70-72)caG>caA		Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						67	60	63					2																	128177527		2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128177527G>A	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.9G>A	2.37:g.128177527G>A						PROC_uc002tok.3_Silent_p.Q3Q|PROC_uc010yzi.2_Silent_p.Q24Q|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Silent_p.Q24Q	p.Q24Q	NM_000312	NP_000303	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	1	99	+	Colorectal(110;0.1)		3					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.72G>A	CCDS2145.1																																																																																				0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		A	128177527	G	A	128177527	2	1	83	1	0	0	0	0	0	0	0	1	12545	962	34	3		3	PROC	2	128177527	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08		128177527	115021846	7	5609											
SPEG	10290	broad.mit.edu	37	chr2	220349266	220349266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcgctcggaggagcgcGgccccttccgtggggccgag	3	6	18	14	7	0	0	0	0	0	0	3	3	1	2	4	5	1	2	4	5	0	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:220349266G>A	ENST00000312358.7	+	30	7213	c.7081G>A	c.(7081-7083)Ggc>Agc	p.G2361S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2361	Arg-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAGGAGCGCGGCCCCTTCCG	0.731																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7081-7083)Ggc>Agc		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							6	7	6					2																	220349266		1557	3581	5138	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220349266G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7081G>A	2.37:g.220349266G>A	ENSP00000311684:p.Gly2361Ser						p.G2361S	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	29	7081	+		Renal(207;0.0183)	2361			Arg-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7081G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441573	0.43326	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.60797	0.16	4.15	4.15	0.48705	.	0.000000	0.39544	N	0.001340	T	0.26702	0.0653	N	0.04508	-0.205	0.31087	N	0.711298	B	0.24721	0.11	B	0.09377	0.004	T	0.20240	-1.0281	10	0.12103	T	0.63	.	6.3001	0.21107	0.1027:0.2557:0.6416:0.0	.	2361	Q15772	SPEG_HUMAN	S	2361	ENSP00000311684:G2361S	ENSP00000265327:G2361S	G	+	1	0	SPEG	220057510	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	3.132000	0.50523	2.136000	0.66102	0.462000	0.41574	GGC		0.731	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220349266	G	A	220349266	3	1	83	1	0	0	0	0	1	0	0	0	15035	1116	39	2	7211	2	SPEG	2	220349266	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	92171739	220349266	22850107	8	5610											
IQCA1	79781	broad.mit.edu	37	chr2	237374203	237374203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttctccttgatatccaCgccttctatcaactttaggt	9	15	6	11	1	3	1	1	1	2	0	5	1	4	1	3	2	1	1	3	2	5	7	rs201265396	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:237374203C>T	ENST00000409907.3	-	6	1145	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	IQCA1_ENST00000431676.2_Missense_Mutation_p.V291M|IQCA1_ENST00000309507.5_Missense_Mutation_p.V287M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	291							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGATATCCACGCCTTCTATC	0.473													C|||	2	0.000399361	0	0	5008	,	,		19767	0		0.001	False		,,,				2504	0.001					uc002vwb.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(892-894)Gtg>Atg		Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.		C	MET/VAL	2,3994		0,2,1996	165	156	159		871	-3.1	0	2		159	0,8308		0,0,4154	yes	missense	IQCA1	NM_024726.3	21	0,2,6150	TT,TC,CC		0.0,0.0501,0.0163	benign	291/823	237374203	2,12302	1998	4154	6152	SO:0001583	missense	79781						ATP binding	g.chr2:237374203C>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.871G>A	2.37:g.237374203C>T	ENSP00000387347:p.Val291Met					IQCA1_uc002vvz.1_Missense_Mutation_p.V291M|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	p.V298M	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			5	926	-			291					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.892G>A	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.511295|1.511295	0.27036|0.27036	5.01E-4|5.01E-4	0.0|0.0	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.93859	.|-3.17;-3.16;-3.3	5.37|5.37	-3.11|-3.11	0.05299|0.05299	.|.	.|1.294630	.|0.05158	.|N	.|0.497235	D|D	0.85062|0.85062	0.5611|0.5611	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.28208	.|0.091;0.12;0.203	.|B;B;B	.|0.12837	.|0.005;0.008;0.008	T|T	0.71642|0.71642	-0.4531|-0.4531	5|10	.|0.62326	.|D	.|0.03	.|.	14.0435|14.0435	0.64690|0.64690	0.0:0.491:0.3079:0.2011|0.0:0.491:0.3079:0.2011	.|.	.|291;298;291	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	H|M	309|291;298;287;291;287	.|ENSP00000387347:V291M;ENSP00000311951:V287M;ENSP00000407213:V291M	.|ENSP00000254653:V291M	R|V	-|-	2|1	0|0	IQCA1|IQCA1	237038942|237038942	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.345000|0.345000	0.19979|0.19979	-0.597000|-0.597000	0.05813|0.05813	-0.226000|-0.226000	0.12346|0.12346	CGT|GTG		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		T	237374203	C	T	237374203	3	4	83	1	0	0	0	0	1	0	0	0	7802	536	19	1	1653	1	IQCA1	2	237374203	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	17024937	237374203	5825170	9	5611											
CSPG5	10675	broad.mit.edu	37	chr3	47619240	47619240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccggtcaccgcagcCgactcctgcagcacctcttc	5	7	11	18	4	2	0	1	0	1	0	4	1	3	0	5	2	4	3	5	2	0	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:47619240C>T	ENST00000383738.2	-	2	2374	c.276G>A	c.(274-276)tcG>tcA	p.S92S	CSPG5_ENST00000264723.4_Silent_p.S92S|CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000456150.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	92					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCACCGCAGCCGACTCCTGCA	0.726																																						uc003crp.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(274-276)tcG>tcA		Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.							25	31	29					3																	47619240		2178	4274	6452	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619240C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.276G>A	3.37:g.47619240C>T						CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Silent_p.S92S|CSPG5_uc021wxh.1_Silent_p.S92S|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	p.S92S	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	1	452	-			92					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.276G>A	CCDS56253.1																																																																																				0.726	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		T	47619240	C	T	47619240	2	4	83	1	0	0	0	0	0	0	0	1	3961	639	23	2		2	CSPG5	3	47619240	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		47619240	150403190	10	5612											
OR5K1	26339	broad.mit.edu	37	chr3	98188663	98188663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctattacccccaaaatGttagagaacttcttttctga	11	15	6	9	0	2	2	0	1	2	1	2	3	2	2	2	0	3	2	2	0	6	6	rs188538173	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:98188663G>A	ENST00000332650.5	+	1	340	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCAAAATGTTAGAGAACT	0.413																																						uc003dsm.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(241-243)atG>atA		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							156	166	163					3																	98188663		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188663G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.243G>A	3.37:g.98188663G>A	ENSP00000373193:p.Met81Ile						p.M81I	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	243	+			81					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.243G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231413	0.09969	.	.	ENSG00000232382	ENST00000332650	T	0.01902	4.57	5.18	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.02767	0.0083	L	0.38838	1.175	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.35176	-0.9799	10	0.72032	D	0.01	-13.7312	12.1786	0.54199	0.0:0.0:0.8284:0.1716	.	81	Q8NHB7	OR5K1_HUMAN	I	81	ENSP00000373193:M81I	ENSP00000373193:M81I	M	+	3	0	OR5K1	99671353	0.001000	0.12720	0.160000	0.22671	0.280000	0.26924	0.007000	0.13174	2.413000	0.81919	0.563000	0.77884	ATG		0.413	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			A	98188663	G	A	98188663	3	1	83	1	0	0	0	0	1	0	0	0	11166	1377	48	3	245	3	OR5K1	3	98188663	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	50569423	98188663	99833767	11	5613											
SLC15A2	6565	broad.mit.edu	37	chr3	121647354	121647354	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaaggtgacagtggtGggaaatgaaaacaattctct	14	9	14	4	0	1	3	0	3	1	0	2	5	1	4	0	4	1	0	0	4	5	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:121647354G>T	ENST00000489711.1	+	15	1681	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	SLC15A2_ENST00000295605.2_Silent_p.V400V|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	431					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGACAGTGGTGGGAAATGAAA	0.443																																						uc003eep.2																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1291-1293)gtG>gtT		Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	Cefadroxil(DB01140)						188	195	193					3																	121647354		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121647354G>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1293G>T	3.37:g.121647354G>T						SLC15A2_uc011bjn.1_Silent_p.V400V	p.V431V	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	14	1446	+			431					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.1293G>T	CCDS3007.1																																																																																				0.443	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		T	121647354	G	T	121647354	2	4	83	1	0	0	0	0	0	0	0	1	14399	1335	47	5		5	SLC15A2	3	121647354	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	23458691	121647354	76375076	12	5614											
COPB2	9276	broad.mit.edu	37	chr3	139098010	139098010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacactctaatctgcatGtcatcctagaaacagaaatt	15	12	5	9	0	3	3	1	1	2	2	4	3	4	3	1	0	3	1	1	0	5	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:139098010G>A	ENST00000333188.5	-	4	415	c.234C>T	c.(232-234)gaC>gaT	p.D78D	COPB2_ENST00000507777.1_Silent_p.D49D|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	78					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAATCTGCATGTCATCCTAGA	0.363																																						uc003etf.4																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(232-234)gaC>gaT		Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.							80	79	79					3																	139098010		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139098010G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.234C>T	3.37:g.139098010G>A						COPB2_uc011bmv.2_Silent_p.D49D|COPB2_uc010hui.3_Silent_p.D49D|COPB2_uc011bmw.1_Silent_p.D78D	p.D78D	NM_004766	NP_004757	P35606	COPB2_HUMAN			3	364	-			78					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.234C>T	CCDS3108.1																																																																																				0.363	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		A	139098010	G	A	139098010	2	1	83	1	0	0	0	0	0	0	0	1	3729	1368	48	3		3	COPB2	3	139098010	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	17450656	139098010	58924420	13	5615											
BST1	683	broad.mit.edu	37	chr4	15717416	15717416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgcatgaaattgggggacCcaatgtgtaagttatggtga	12	12	13	4	0	0	2	0	2	0	0	0	3	0	3	1	3	1	3	1	3	5	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:15717416C>G	ENST00000265016.4	+	6	893	c.698C>G	c.(697-699)cCc>cGc	p.P233R	BST1_ENST00000382346.3_Missense_Mutation_p.P248R	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	233					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ATTGGGGGACCCAATGTGTAA	0.328																																						uc003goh.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						c.(697-699)cCc>cGc		Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.							70	72	72					4																	15717416		2203	4300	6503	SO:0001583	missense	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15717416C>G	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.698C>G	4.37:g.15717416C>G	ENSP00000265016:p.Pro233Arg						p.P233R	NM_004334	NP_004325	Q10588	BST1_HUMAN			5	893	+			233					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	c.698C>G	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.20|17.20	3.327792|3.327792	0.60743|0.60743	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	T;T|T;T;T	0.12569|0.13538	2.67;2.67|2.58;2.58;2.58	5.56|5.56	5.56|5.56	0.83823|0.83823	.|NAD(P)-binding domain (1);	0.175613|0.175613	0.50627|0.50627	D|D	0.000106|0.000106	T|T	0.40570|0.40570	0.1122|0.1122	M|M	0.81341|0.81341	2.54|2.54	0.31414|0.31414	N|N	0.67511|0.67511	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.47509|0.47509	-0.9112|-0.9112	8|10	0.32370|0.66056	T|D	0.25|0.02	-27.0232|-27.0232	15.3709|15.3709	0.74564|0.74564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|248;233	.|A6NC48;Q10588	.|.;BST1_HUMAN	A|R	129;41|233;248;83	ENSP00000423357:P129A;ENSP00000424761:P41A|ENSP00000265016:P233R;ENSP00000371783:P248R;ENSP00000420925:P83R	ENSP00000423357:P129A|ENSP00000265016:P233R	P|P	+|+	1|2	0|0	BST1|BST1	15326514|15326514	0.986000|0.986000	0.35501|0.35501	0.065000|0.065000	0.19835|0.19835	0.941000|0.941000	0.58515|0.58515	4.155000|4.155000	0.58131|0.58131	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	CCA|CCC		0.328	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		G	15717416	C	G	15717416	3	3	83	1	0	0	0	0	1	0	0	0	1533	623	22	5	720	5	BST1	4	15717416	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		15717416	175436860	14	5616											
AREG	374	broad.mit.edu	37	chr4	75312298	75312298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacacctactctgggaagCgtgaaccattttctggggac	10	10	11	10	1	2	2	0	2	2	0	2	4	2	4	2	3	3	0	2	3	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:75312298C>T	ENST00000395748.3	+	2	321	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	AREG_ENST00000502307.1_Missense_Mutation_p.R37C|AREG_ENST00000264487.2_Missense_Mutation_p.R37C	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	37					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			CTCTGGGAAGCGTGAACCATT	0.483																																						uc021xpc.1																			0				lung(4)	4						c.(109-111)Cgt>Tgt		Homo sapiens amphiregulin (AREG), mRNA.							10	32	25					4																	75312298		1855	4116	5971	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312298C>T	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"Endogenous ligands"	651	protein-coding gene	gene with protein product		104640	"schwannoma-derived growth factor", "amphiregulin B"	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.109C>T	4.37:g.75312298C>T	ENSP00000379097:p.Arg37Cys						p.R37C	NM_001657	NP_001648	P15514	AREG_HUMAN	Lung(101;0.196)		1	319	+			37					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.109C>T	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	C	4.331	0.060764	0.08339	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.14893	2.47;2.47;2.63	5.23	0.995	0.19838	.	0.700776	0.14656	N	0.306320	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	1	P	0.37781	0.608	B	0.34873	0.191	T	0.22312	-1.0220	10	0.66056	D	0.02	-5.7189	3.7284	0.08484	0.4095:0.19:0.4004:0.0	.	37	P15514	AREG_HUMAN	C	37	ENSP00000379097:R37C;ENSP00000264487:R37C;ENSP00000421414:R37C	ENSP00000264487:R37C	R	+	1	0	AREG	75531162	0.692000	0.27719	0.013000	0.15412	0.008000	0.06430	0.789000	0.26886	0.314000	0.23086	-1.206000	0.01644	CGT		0.483	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			T	75312298	C	T	75312298	3	4	83	1	0	0	0	0	1	0	0	0	843	768	27	1	115	1	AREG	4	75312298	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	59594882	75312298	115841978	15	5617											
ADH6	130	broad.mit.edu	37	chr4	100130080	100130080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacaggtagaacctggAgtcacctaaacacatacagg	16	5	9	11	0	1	1	1	0	0	1	1	2	1	2	2	3	4	2	2	3	5	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:100130080A>G	ENST00000237653.7	-	6	957	c.573T>C	c.(571-573)acT>acC	p.T191T	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394897.1_Silent_p.T191T|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Silent_p.T191T|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	191					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TAGAACCTGGAGTCACCTAAA	0.458																																						uc003huo.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(571-573)acT>acC		Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	Abacavir(DB01048)|NADH(DB00157)						159	163	162					4																	100130080		2203	4300	6503	SO:0001819	synonymous_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100130080A>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.573T>C	4.37:g.100130080A>G						LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Silent_p.T191T|ADH6_uc010ile.3_Silent_p.T191T	p.T191T	NM_001102470	NP_001095940	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	5	667	-			191					B3KS45|Q58F53	Silent	SNP	ENST00000237653.7	37	c.573T>C	CCDS3647.1																																																																																				0.458	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		G	100130080	A	G	100130080	2	3	83	1	0	0	0	0	0	0	0	1	312	291	11	4		4	ADH6	4	100130080	Silent	SNP	A	TCGA-06-2567-01A-01D-1494-08	24817782	100130080	91024196	16	5618											
ITGA1	3672	broad.mit.edu	37	chr5	52183784	52183784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgaaaacattcaacGgttttccatagctgtaagtg	14	12	9	6	1	1	3	1	2	0	1	2	3	2	3	1	1	3	3	1	1	6	5	rs201172852		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr5:52183784G>A	ENST00000282588.6	+	8	1369	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	304	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AACATTCAACGGTTTTCCATA	0.388																																						uc003jou.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(910-912)cGg>cAg		Homo sapiens integrin, alpha 1 (ITGA1), mRNA.							116	105	109					5																	52183784		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52183784G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.911G>A	5.37:g.52183784G>A	ENSP00000282588:p.Arg304Gln					ITGA1_uc003jov.3_Non-coding_Transcript	p.R304Q	NM_181501	NP_852478	P56199	ITA1_HUMAN			7	1325	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	304			VWFA.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.911G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635338	0.96682	.	.	ENSG00000213949	ENST00000282588	D	0.83506	-1.73	5.63	5.63	0.86233	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93243	0.6628	10	0.72032	D	0.01	.	19.6892	0.95991	0.0:0.0:1.0:0.0	.	304	P56199	ITA1_HUMAN	Q	304	ENSP00000282588:R304Q	ENSP00000282588:R304Q	R	+	2	0	ITGA1	52219541	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	9.383000	0.97214	2.664000	0.90586	0.563000	0.77884	CGG		0.388	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		A	52183784	G	A	52183784	3	1	83	1	0	0	0	0	1	0	0	0	7872	1116	39	2	941	2	ITGA1	5	52183784	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		52183784	128731476	17	5619											
DSP	1832	broad.mit.edu	37	chr6	7569486	7569486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcaagtggtacgtgaCgggcccgggaggcgttgaca	8	5	18	10	5	0	2	0	2	0	0	0	3	0	3	1	4	2	4	1	4	2	2	rs374283517		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:7569486C>T	ENST00000379802.3	+	12	1828	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	DSP_ENST00000418664.2_Missense_Mutation_p.T496M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTACGTGACGGGCCCGGGA	0.552																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1486-1488)aCg>aTg		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.		C	MET/THR,MET/THR	0,4406		0,0,2203	165	132	143		1487,1487	5.5	1	6		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	496/2273,496/2872	7569486	1,13005	2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569486C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1487C>T	6.37:g.7569486C>T	ENSP00000369129:p.Thr496Met					DSP_uc003mxq.1_Missense_Mutation_p.T496M|DSP_uc021yle.1_Missense_Mutation_p.T496M	p.T496M	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	11	1766	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	496			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1487C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958242	0.92726	0.0	1.16E-4	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.76578	-0.31;-1.03	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000011	T	0.81678	0.4873	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79022	-0.1973	10	0.35671	T	0.21	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	543;496	Q4LE79;P15924	.;DESP_HUMAN	M	496;496;301	ENSP00000369129:T496M;ENSP00000396591:T496M	ENSP00000369129:T496M	T	+	2	0	DSP	7514485	1.000000	0.71417	0.956000	0.39512	0.967000	0.64934	6.089000	0.71384	2.596000	0.87737	0.655000	0.94253	ACG		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7569486	C	T	7569486	3	4	83	1	0	0	0	0	1	0	0	0	4781	536	19	1	1533	1	DSP	6	7569486	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		7569486	163545581	18	5620											
COL11A2	1302	broad.mit.edu	37	chr6	33153497	33153497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgataatcaggggttgtcCccgtagtcatcacatcataa	11	11	8	11	1	4	1	4	1	0	0	5	1	5	1	3	2	0	2	3	2	3	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:33153497C>T	ENST00000341947.2	-	6	1084	c.857G>A	c.(856-858)gGg>gAg	p.G286E	COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G286E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G286E|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G286E|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	286	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGGGTTGTCCCCGTAGTCAT	0.542																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(856-858)gGg>gAg		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							87	101	96					6																	33153497		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33153497C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.857G>A	6.37:g.33153497C>T	ENSP00000339915:p.Gly286Glu					COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	p.G286E	NM_080680	NP_542411	P13942	COBA2_HUMAN			5	1085	-			286			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000341947.2	37	c.857G>A		.	.	.	.	.	.	.	.	.	.	C	5.107	0.205379	0.09704	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000395197;ENST00000374712;ENST00000457788	D;D;D;D;D	0.89617	-2.28;-2.23;-2.37;-2.44;-2.54	3.8	1.96	0.26148	.	2.106070	0.02988	N	0.146467	T	0.80325	0.4602	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76677	-0.2871	10	0.02654	T	1	.	6.4471	0.21882	0.0:0.7625:0.0:0.2375	.	286	P13942	COBA2_HUMAN	E	286	ENSP00000339915:G286E;ENSP00000350079:G286E;ENSP00000378623:G286E;ENSP00000363844:G286E;ENSP00000405520:G286E	ENSP00000339915:G286E	G	-	2	0	COL11A2	33261475	0.331000	0.24713	0.849000	0.33467	0.556000	0.35491	0.539000	0.23175	0.370000	0.24538	0.297000	0.19635	GGG		0.542	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				T	33153497	C	T	33153497	3	4	83	1	0	0	0	0	1	0	0	0	3668	623	22	3	4597	3	COL11A2	6	33153497	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	25584011	33153497	137961570	19	5621											
ASCC3	10973	broad.mit.edu	37	chr6	101054729	101054729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctaatgtgcttgtagcaAtaagaacctaaaaagcaaaa	19	8	8	6	0	0	1	0	0	0	1	0	1	0	1	1	1	4	5	1	1	10	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:101054729A>G	ENST00000369162.2	-	32	5275	c.4931T>C	c.(4930-4932)aTt>aCt	p.I1644T		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1644	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCTTGTAGCAATAAGAACCTA	0.294																																						uc003pqk.3																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4930-4932)aTt>aCt		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							32	36	34					6																	101054729		2197	4294	6491	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101054729A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4931T>C	6.37:g.101054729A>G	ENSP00000358159:p.Ile1644Thr						p.I1644T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	31	5260	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1644			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4931T>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099019	0.76870	.	.	ENSG00000112249	ENST00000369162	T	0.42513	0.97	5.78	5.78	0.91487	Helicase, C-terminal (3);	0.123406	0.56097	D	0.000040	T	0.53594	0.1806	M	0.62088	1.915	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.59123	-0.7513	10	0.87932	D	0	.	16.1143	0.81295	1.0:0.0:0.0:0.0	.	1644	Q8N3C0	HELC1_HUMAN	T	1644	ENSP00000358159:I1644T	ENSP00000358159:I1644T	I	-	2	0	ASCC3	101161450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.174000	0.94824	2.198000	0.70561	0.477000	0.44152	ATT		0.294	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		G	101054729	A	G	101054729	3	3	83	1	0	0	0	0	1	0	0	0	1033	101	4	4	1721	4	ASCC3	6	101054729	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	67901232	101054729	70060338	20	5622											
CITED2	10370	broad.mit.edu	37	chr6	139694947	139694947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagggcgttgaaggcgtgCtggggctgctgctgctggtg	4	11	19	7	2	0	1	0	1	0	0	0	1	0	1	0	5	4	6	0	5	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:139694947C>T	ENST00000367651.2	-	2	350	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CITED2_ENST00000537332.1_Silent_p.Q45Q|CITED2_ENST00000536159.1_Silent_p.Q45Q	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	45	His-rich.				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGAAGGCGTGCTGGGGCTGCT	0.662																																					NSCLC(98;1219 1550 33720 43229 49330)	uc021zfz.1																			0				large_intestine(1)|lung(4)	5						c.(133-135)caG>caA		Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.							45	45	45					6																	139694947		2203	4300	6503	SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694947C>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.135G>A	6.37:g.139694947C>T						CITED2_uc021zga.1_Silent_p.Q45Q|CITED2_uc003qip.1_Silent_p.Q45Q|CITED2_uc021zgb.1_Silent_p.Q45Q	p.Q45Q	NM_001168389	NP_006070	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	1	225	-	Breast(32;0.226)		45			His-rich.		O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.135G>A	CCDS5195.1																																																																																				0.662	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			T	139694947	C	T	139694947	2	4	83	1	0	0	0	0	0	0	0	1	3440	796	28	3		3	CITED2	6	139694947	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	38640218	139694947	31420120	21	5623											
HOXA6	3203	broad.mit.edu	37	chr7	27185382	27185382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttctggaaccagatcttGatctggcgctcggtgaggca	7	10	14	10	3	3	3	0	2	3	1	4	4	3	4	1	5	1	3	1	5	1	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:27185382G>C	ENST00000222728.3	-	2	621	c.597C>G	c.(595-597)atC>atG	p.I199M	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	199					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACCAGATCTTGATCTGGCGCT	0.597																																						uc003syo.2																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(595-597)atC>atG		Homo sapiens homeobox A6 (HOXA6), mRNA.							170	163	165					7																	27185382		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185382G>C		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.597C>G	7.37:g.27185382G>C	ENSP00000222728:p.Ile199Met					HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	p.I199M	NM_024014	NP_076919	P31267	HXA6_HUMAN			1	622	-			199					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.597C>G	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796208	0.70567	.	.	ENSG00000106006	ENST00000222728	D	0.97138	-4.26	5.36	3.55	0.40652	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.96604	3.85	0.53005	D	0.999964	D	0.76494	0.999	D	0.85130	0.997	D	0.98368	1.0552	10	0.87932	D	0	.	7.447	0.27217	0.2877:0.0:0.7123:0.0	.	199	P31267	HXA6_HUMAN	M	199	ENSP00000222728:I199M	ENSP00000222728:I199M	I	-	3	3	HOXA6	27151907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.307000	0.33516	1.267000	0.44247	0.561000	0.74099	ATC		0.597	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			C	27185382	G	C	27185382	3	2	83	1	0	0	0	0	1	0	0	0	7296	1280	45	5	108	5	HOXA6	7	27185382	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		27185382	131953281	22	5624											
TXNDC3	51314	broad.mit.edu	37	chr7	37934142	37934142	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgttcctaactcctgagCaaatagagaaaatttatcca	17	11	5	8	0	0	2	0	1	0	1	3	3	3	2	3	0	2	2	3	0	7	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:37934142C>T	ENST00000199447.4	+	16	1846	c.1474C>T	c.(1474-1476)Caa>Taa	p.Q492*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.Q492*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	492	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AACTCCTGAGCAAATAGAGAA	0.303																																						uc003tfn.3																			0											c.(1474-1476)Caa>Taa		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							64	66	65					7																	37934142		2203	4299	6502	SO:0001587	stop_gained	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37934142C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1474C>T	7.37:g.37934142C>T	ENSP00000199447:p.Gln492*						p.Q492*	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			15	1846	+			492			NDK 3.		Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.1474C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786140	0.49997	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	4.05	-8.1	0.01086	.	5.282530	0.00866	N	0.001973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	8.5291	5.4605	0.16614	0.0994:0.1258:0.525:0.2499	.	.	.	.	X	492	.	ENSP00000199447:Q492X	Q	+	1	0	TXNDC3	37900667	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.731000	0.00805	-2.300000	0.00658	0.467000	0.42956	CAA		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		T	37934142	C	T	37934142	4	4	83	1	0	0	0	0	0	1	0	0	16795	711	25	3	1528	3	TXNDC3	7	37934142	Nonsense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	10748760	37934142	121204521	23	5625											
COBL	23242	broad.mit.edu	37	chr7	51096735	51096735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcgttggtgccatgaTgttggtgccaaggcagcgtt	5	12	15	9	2	0	1	0	1	0	0	1	1	0	1	3	4	3	4	3	4	1	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:51096735T>C	ENST00000265136.7	-	10	2223	c.2058A>G	c.(2056-2058)acA>acG	p.T686T	COBL_ENST00000395542.2_Silent_p.T768T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	686					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCATGATGTTGGTGCCA	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tps.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2227-2229)acA>acG		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							155	133	141					7																	51096735		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51096735T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2058A>G	7.37:g.51096735T>C						COBL_uc003tpr.4_Silent_p.T686T|COBL_uc011kcl.2_Silent_p.T686T|COBL_uc003tpp.4_Silent_p.T472T|COBL_uc003tpq.4_Silent_p.T627T|COBL_uc003tpo.4_Silent_p.T228T	p.T743T	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2414	-	Glioma(55;0.08)		686					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.2229A>G	CCDS34637.1																																																																																				0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		C	51096735	T	C	51096735	2	2	83	1	0	0	0	0	0	0	0	1	3653	1451	51	4		4	COBL	7	51096735	Silent	SNP	T	TCGA-06-2567-01A-01D-1494-08	13162593	51096735	108041928	24	5626											
POM121L12	285877	broad.mit.edu	37	chr7	53104084	53104084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctctgaagccgagcctCggcccctggagcctcagttt	5	8	13	15	2	2	1	1	1	1	0	3	3	2	2	6	3	3	1	6	3	1	1	rs200244415		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:53104084C>T	ENST00000408890.4	+	1	736	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	240										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCGAGCCTCGGCCCCTGGA	0.647																																						uc003tpz.3																			0		p.S239T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(718-720)ctC>ctT		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.		C		0,3950		0,0,1975	44	52	50		720	0.1	0	7		50	1,8281		0,1,4140	no	coding-synonymous	POM121L12	NM_182595.3		0,1,6115	TT,TC,CC		0.0121,0.0,0.0082		240/297	53104084	1,12231	1975	4141	6116	SO:0001819	synonymous_variant	285877							g.chr7:53104084C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.720C>T	7.37:g.53104084C>T							p.L240L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	736	+			240					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.720C>T	CCDS43584.1																																																																																				0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53104084	C	T	53104084	2	4	83	1	0	0	0	0	0	0	0	1	12241	871	31	2		2	POM121L12	7	53104084	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	2007349	53104084	106034579	25	5627											
EGFR	1956	broad.mit.edu	37	chr7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactgcgtcaagacctgcCcggcaggagtcatgggagaa	10	5	13	13	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:55233036C>T	ENST00000275493.2	+	15	1963	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_ENST00000442591.1_Missense_Mutation_p.P596S|EGFR_ENST00000344576.2_Missense_Mutation_p.P596S|EGFR_ENST00000455089.1_Missense_Mutation_p.P551S|EGFR_ENST00000454757.2_Missense_Mutation_p.P543S|EGFR_ENST00000342916.3_Missense_Mutation_p.P596S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1786-1788)Ccg>Tcg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92	80	84					7																	55233036		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233036C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1786C>T	7.37:g.55233036C>T	ENSP00000275493:p.Pro596Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2032	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1786C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407764	0.96051	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;P;D;P	0.64410	0.702;0.824;0.925;0.844	T	0.81780	-0.0776	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	551;596;466;596;596;596;543;390	ENSP00000415559:P551S;ENSP00000342376:P596S;ENSP00000345973:P596S;ENSP00000275493:P596S;ENSP00000410031:P596S;ENSP00000395243:P543S	ENSP00000275493:P596S	P	+	1	0	EGFR	55200530	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233036	C	T	55233036	3	4	83	1	0	0	0	0	1	0	0	0	4967	623	22	3	1855	3	EGFR	7	55233036	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	2128952	55233036	103905627	26	5628											
CALN1	83698	broad.mit.edu	37	chr7	71571150	71571150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccgtccatgtccaagCgctgcatgatgatggccagc	8	10	10	13	2	1	2	0	2	1	0	3	2	3	2	4	1	4	2	4	1	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:71571150C>T	ENST00000329008.5	-	3	546	c.248G>A	c.(247-249)cGc>cAc	p.R83H	CALN1_ENST00000412588.1_Missense_Mutation_p.R125H|CALN1_ENST00000405452.2_Missense_Mutation_p.R83H|CALN1_ENST00000431984.1_Missense_Mutation_p.R83H|CALN1_ENST00000395275.2_Missense_Mutation_p.R125H|CALN1_ENST00000395276.2_Missense_Mutation_p.R83H	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGTCCAAGCGCTGCATGAT	0.587																																						uc003twb.4																			0		p.W124C(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(373-375)cGc>cAc		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.							70	53	59					7																	71571150		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571150C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.248G>A	7.37:g.71571150C>T	ENSP00000332498:p.Arg83His					CALN1_uc003twa.4_Missense_Mutation_p.R83H|CALN1_uc003twc.4_Missense_Mutation_p.R83H	p.R125H	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			3	765	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	83					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.374G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837055	0.50951	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.69	4.81	0.61882	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.047648	0.85682	D	0.000000	T	0.58409	0.2120	N	0.20685	0.6	0.40895	D	0.9841	B;B	0.25272	0.122;0.122	B;B	0.27608	0.081;0.081	T	0.60530	-0.7245	10	0.87932	D	0	-12.0301	13.7558	0.62935	0.0:0.9266:0.0:0.0734	.	83;83	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	H	83;125;83;83;125;83;83	ENSP00000332498:R83H;ENSP00000378690:R125H;ENSP00000378691:R83H;ENSP00000410704:R83H;ENSP00000391882:R125H;ENSP00000384354:R83H;ENSP00000411806:R83H	ENSP00000332498:R83H	R	-	2	0	CALN1	71209086	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.456000	0.80751	1.439000	0.47511	0.644000	0.83932	CGC		0.587	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71571150	C	T	71571150	3	4	83	1	0	0	0	0	1	0	0	0	2591	768	27	1	427	1	CALN1	7	71571150	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	16338114	71571150	87567513	27	5629											
SLC26A5	375611	broad.mit.edu	37	chr7	103050930	103050930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagctgctgcggtggtaaAcccacggaccagaggctctg	9	6	13	13	2	1	1	0	0	1	1	1	2	1	2	2	4	4	4	2	4	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:103050930A>T	ENST00000306312.3	-	7	898	c.637T>A	c.(637-639)Ttt>Att	p.F213I	SLC26A5_ENST00000393735.2_Missense_Mutation_p.F213I|SLC26A5_ENST00000393727.1_Missense_Mutation_p.F213I|SLC26A5_ENST00000356767.4_Missense_Mutation_p.F213I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.F213I|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Missense_Mutation_p.F213I|SLC26A5_ENST00000393729.1_Missense_Mutation_p.F176I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.F213I|SLC26A5_ENST00000339444.6_Missense_Mutation_p.F213I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	213					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCGGTGGTAAACCCACGGACC	0.408																																						uc003vbz.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(637-639)Ttt>Att		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							72	71	71					7																	103050930		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050930A>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.637T>A	7.37:g.103050930A>T	ENSP00000304783:p.Phe213Ile					SLC26A5_uc003vbt.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F213I	p.F213I	NM_198999	NP_945350	P58743	S26A5_HUMAN			6	899	-			213					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.637T>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392395	0.83011	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.88241	2.94	0.80722	D	1	P;P;P;P;P	0.43024	0.578;0.798;0.581;0.669;0.759	P;P;B;B;P	0.49999	0.549;0.628;0.336;0.302;0.494	D	0.98358	1.0547	10	0.87932	D	0	.	16.0046	0.80354	1.0:0.0:0.0:0.0	.	213;213;213;213;213	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	I	213;213;213;213;213;213;176;213;213	ENSP00000342396:F213I;ENSP00000349210:F213I;ENSP00000377336:F213I;ENSP00000304783:F213I;ENSP00000377331:F213I;ENSP00000389733:F213I;ENSP00000377330:F176I;ENSP00000377328:F213I;ENSP00000377324:F213I	ENSP00000304783:F213I	F	-	1	0	SLC26A5	102838166	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	8.825000	0.92029	2.186000	0.69663	0.482000	0.46254	TTT		0.408	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		T	103050930	A	T	103050930	3	4	83	1	0	0	0	0	1	0	0	0	14520	43	2	5	1694	5	SLC26A5	7	103050930	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	31479780	103050930	56087733	28	5630											
COPG2	26958	broad.mit.edu	37	chr7	130297070	130297070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttgggcttcattgaTccagcgcttaaccacatcat	9	13	7	12	1	3	1	2	1	1	0	4	1	4	1	2	1	3	3	2	1	1	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:130297070T>C	ENST00000445977.2	-	8	621	c.532A>G	c.(532-534)Atc>Gtc	p.I178V				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	178					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					GCTTCATTGATCCAGCGCTTA	0.353																																						uc003vqh.1																			0				large_intestine(1)	1						c.(532-534)Atc>Gtc		Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.							151	131	138					7																	130297070		1897	4125	6022	SO:0001583	missense	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130297070T>C	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"coat protein, nonclathrin, gamma-2-cop"	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.532A>G	7.37:g.130297070T>C	ENSP00000393912:p.Ile178Val						p.I178V	NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN			7	622	-	Melanoma(18;0.0435)		178					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Missense_Mutation	SNP	ENST00000445977.2	37	c.532A>G		.	.	.	.	.	.	.	.	.	.	T	8.949	0.967631	0.18659	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	T;T	0.13089	2.62;2.62	5.58	4.51	0.55191	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.133152	0.49305	N	0.000158	T	0.02342	0.0072	N	0.00298	-1.69	0.45087	D	0.998102	B	0.02656	0.0	B	0.04013	0.001	T	0.30387	-0.9980	10	0.02654	T	1	.	5.9132	0.19039	0.0:0.1494:0.0:0.8506	.	178	Q9UBF2	COPG2_HUMAN	V	178	ENSP00000393912:I178V;ENSP00000331218:I178V	ENSP00000331218:I178V	I	-	1	0	COPG2	129947607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.898000	0.48672	1.099000	0.41499	0.459000	0.35465	ATC		0.353	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		C	130297070	T	C	130297070	3	2	83	1	0	0	0	0	1	0	0	0	3732	1435	50	4	698	4	COPG2	7	130297070	Missense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08	27246140	130297070	28841593	29	5631											
SH2D4A	63898	broad.mit.edu	37	chr8	19177081	19177081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaacagatactgtcggAgatgtacatagatcctgatc	13	10	10	8	1	0	5	0	2	0	3	3	6	1	5	1	1	3	2	1	1	4	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:19177081A>G	ENST00000265807.3	+	2	434	c.23A>G	c.(22-24)gAg>gGg	p.E8G	SH2D4A_ENST00000518040.1_Intron|SH2D4A_ENST00000519207.1_Missense_Mutation_p.E8G	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	8					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATACTGTCGGAGATGTACATA	0.463																																						uc003wzc.3																			0		p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(22-24)gAg>gGg		Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.							82	73	76					8																	19177081		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19177081A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.23A>G	8.37:g.19177081A>G	ENSP00000265807:p.Glu8Gly					SH2D4A_uc003wzb.3_Missense_Mutation_p.E8G|SH2D4A_uc011kym.2_Intron	p.E8G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	1	331	+			8					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.23A>G	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657609	0.47467	.	.	ENSG00000104611	ENST00000265807;ENST00000519207	T;T	0.15834	2.39;2.39	5.88	5.88	0.94601	.	0.438172	0.25071	N	0.033372	T	0.21062	0.0507	M	0.73598	2.24	0.52501	D	0.999954	P	0.39665	0.682	B	0.30401	0.115	T	0.04041	-1.0982	10	0.87932	D	0	.	14.2529	0.66031	1.0:0.0:0.0:0.0	.	8	Q9H788	SH24A_HUMAN	G	8	ENSP00000265807:E8G;ENSP00000428684:E8G	ENSP00000265807:E8G	E	+	2	0	SH2D4A	19221361	1.000000	0.71417	0.348000	0.25681	0.344000	0.29017	9.266000	0.95659	2.246000	0.74042	0.533000	0.62120	GAG		0.463	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		G	19177081	A	G	19177081	3	3	83	1	0	0	0	0	1	0	0	0	14235	304	11	4	75	4	SH2D4A	8	19177081	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08		19177081	127186941	30	5632											
PREX2	80243	broad.mit.edu	37	chr8	69030839	69030839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaccagcatctgcagcagCcagtgcagctcgtatttcca	9	10	8	14	1	2	0	1	0	1	0	4	0	3	0	3	0	6	6	3	0	1	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:69030839C>A	ENST00000288368.4	+	27	3658	c.3381C>A	c.(3379-3381)agC>agA	p.S1127R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1127					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCAGCAGCCAGTGCAGCT	0.463																																						uc003xxv.1																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3379-3381)agC>agA		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.							145	130	135					8																	69030839		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69030839C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3381C>A	8.37:g.69030839C>A	ENSP00000288368:p.Ser1127Arg						p.S1127R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			26	3408	+			1127					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3381C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932450	0.73442	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.36699	1.24	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.44542	1.39	0.58432	D	0.999999	P	0.47910	0.902	P	0.45071	0.468	T	0.10823	-1.0613	10	0.59425	D	0.04	.	6.7829	0.23657	0.0:0.7808:0.0:0.2192	.	1127	Q70Z35	PREX2_HUMAN	R	1127;1132	ENSP00000288368:S1127R	ENSP00000288368:S1127R	S	+	3	2	PREX2	69193393	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.624000	0.24462	2.435000	0.82474	0.591000	0.81541	AGC		0.463	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	69030839	C	A	69030839	3	1	83	1	0	0	0	0	1	0	0	0	12477	738	26	5	3716	5	PREX2	8	69030839	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	49853758	69030839	77333183	31	5633											
CSMD3	114788	broad.mit.edu	37	chr8	113529374	113529374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacattgaaaaacaacagTgtccccaggttctcttccat	12	11	6	12	0	2	1	1	1	1	0	5	1	4	1	3	1	2	1	3	1	3	3	rs377464995		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:113529374T>A	ENST00000297405.5	-	28	4889	c.4645A>T	c.(4645-4647)Act>Tct	p.T1549S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1509S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1549S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1445S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1549	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACAACAGTGTCCCCAGGT	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0		p.D1548fs*19(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4645-4647)Act>Tct		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							111	99	103					8																	113529374		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529374T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4645A>T	8.37:g.113529374T>A	ENSP00000297405:p.Thr1549Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Missense_Mutation_p.T821S|CSMD3_uc003ynt.3_Missense_Mutation_p.T1509S|CSMD3_uc011lhx.2_Missense_Mutation_p.T1445S	p.T1549S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4804	-			1549			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4645A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552277	0.27739	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.88	3.73	0.42828	Complement control module (2);Sushi/SCR/CCP (3);	0.073595	0.56097	D	0.000028	T	0.47097	0.1427	N	0.16166	0.38	0.24364	N	0.994861	B;B;P	0.36660	0.028;0.035;0.564	B;B;P	0.45753	0.013;0.023;0.492	T	0.41484	-0.9506	10	0.07175	T	0.84	.	10.4459	0.44495	0.0:0.077:0.0:0.923	.	1445;1549;1509	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1509;1549;889;1445;1549	ENSP00000345799:T1509S;ENSP00000297405:T1549S;ENSP00000341558:T889S;ENSP00000412263:T1445S;ENSP00000343124:T1549S	ENSP00000297405:T1549S	T	-	1	0	CSMD3	113598550	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.978000	0.63799	0.892000	0.36259	0.477000	0.44152	ACT		0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113529374	T	A	113529374	3	1	83	1	0	0	0	0	1	0	0	0	3946	1696	59	5	6654	5	CSMD3	8	113529374	Missense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08	44498535	113529374	32834648	32	5634											
SAMD12	401474	broad.mit.edu	37	chr8	119391929	119391929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtcagtaagtctcagCagggctcgccctgcagggtt	6	13	12	10	1	2	0	2	0	1	0	4	0	2	0	1	2	2	5	1	2	1	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:119391929C>T	ENST00000314727.4	-	4	469	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SAMD12_ENST00000409003.4_Silent_p.L111L|SAMD12_ENST00000527515.1_5'Flank|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	111	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAAGTCTCAGCAGGGCTCGCC	0.488																																						uc003yom.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(331-333)ctG>ctA		Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.							86	81	83					8																	119391929		2203	4300	6503	SO:0001819	synonymous_variant	401474							g.chr8:119391929C>T	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.333G>A	8.37:g.119391929C>T						SAMD12_uc010mda.1_Silent_p.L111L|SAMD12_uc010mdb.1_Non-coding_Transcript	p.L111L	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		3	462	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		111			SAM.		Q0P502	Silent	SNP	ENST00000314727.4	37	c.333G>A	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.621802|2.621802	0.46840|0.46840	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000453675|ENST00000526765	.|.	.|.	.|.	6.17|6.17	1.01|1.01	0.19927|0.19927	.|.	.|.	.|.	.|.	.|.	T|T	0.51210|0.51210	0.1661|0.1661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39702|0.39702	-0.9601|-0.9601	4|4	.|.	.|.	.|.	-12.1163|-12.1163	5.0969|5.0969	0.14739|0.14739	0.2117:0.5681:0.1026:0.1176|0.2117:0.5681:0.1026:0.1176	.|.	.|.	.|.	.|.	T|Y	98|126	.|.	.|.	A|C	-|-	1|2	0|0	SAMD12|SAMD12	119461110|119461110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.918000|1.918000	0.40006|0.40006	0.458000|0.458000	0.26988|0.26988	-0.140000|-0.140000	0.14226|0.14226	GCT|TGC		0.488	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		T	119391929	C	T	119391929	2	4	83	1	0	0	0	0	0	0	0	1	13817	697	25	3		3	SAMD12	8	119391929	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	5862555	119391929	26972093	33	5635											
COL22A1	169044	broad.mit.edu	37	chr8	139791753	139791753	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacagcaacactcaccCgcatgccgacctcacccggc	10	4	7	20	3	3	0	3	0	0	0	3	1	3	0	4	1	4	3	4	1	1	0	rs149163176	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:139791753C>T	ENST00000303045.6	-	14	2149	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q	COL22A1_ENST00000435777.1_Splice_Site_p.R568Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	568	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AACACTCACCCGCATGCCGAC	0.592										HNSCC(7;0.00092)			C|||	16	0.00319489	0.0106	0.0029	5008	,	,		15484	0		0	False		,,,				2504	0					uc003yvd.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.e14+1		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.		C	GLN/ARG	37,4369	41.6+/-74.8	0,37,2166	65	70	68		1703	3.3	1	8	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	COL22A1	NM_152888.1	43	0,39,6464	TT,TC,CC		0.0233,0.8398,0.2999	probably-damaging	568/1627	139791753	39,12967	2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139791753C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1704+1G>A	8.37:g.139791753C>T		HNSCC(7;0.00092)					p.R568_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		14	2151	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		568			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1704_splice	CCDS6376.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	13.12	2.141505	0.37825	0.008398	2.33E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.94417	-3.24;-3.24;-3.42	4.18	3.29	0.37713	.	0.968792	0.08382	U	0.954347	D	0.89136	0.6629	N	0.15975	0.35	0.31566	N	0.656939	D	0.76494	0.999	P	0.59221	0.854	T	0.83198	-0.0080	10	0.07813	T	0.8	.	9.3955	0.38399	0.2124:0.7876:0.0:0.0	.	568	Q8NFW1	COMA1_HUMAN	Q	568;568;18	ENSP00000303153:R568Q;ENSP00000387655:R568Q;ENSP00000428244:R18Q	ENSP00000303153:R568Q	R	-	2	0	COL22A1	139860935	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.835000	0.39181	1.323000	0.45263	0.555000	0.69702	CGG		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	T	139791753	C	T	139791753	5	4	83	1	0	0	0	0	0	0	1	0	3681	666	23	2	3385	2	COL22A1	8	139791753	Splice_Site	SNP	C	TCGA-06-2567-01A-01D-1494-08	20399824	139791753	6572269	34	5636											
DMRT1	1761	broad.mit.edu	37	chr9	842164	842164	+	Frame_Shift_Del	DEL	C	C	-																															caagaagtgcaacctgatcgCcgagaggcagcgcgtgatgg																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:842164delC	ENST00000382276.3	+	1	475	c.326delC	c.(325-327)gccfs	p.A109fs	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	109					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AACCTGATCGCCGAGAGGCAG	0.592																																						uc003zgv.3																			0				large_intestine(2)|lung(10)|ovary(1)	13						c.(325-327)gccfs		Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.							5	5	5					9																	842164		2093	4114	6207	SO:0001589	frameshift_variant	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:842164delC	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.326delC	9.37:g.842164delC	ENSP00000371711:p.Ala109fs					DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs	p.A109fs	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	0	475	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	109					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Frame_Shift_Del	DEL	ENST00000382276.3	37	c.326delC	CCDS6442.1																																																																																				0.592	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		-	842164	C	-	842164	7	5	83	1	0	1	0	1	0	0	0	0	4585	739	26	0	328	0	DMRT1	9	842164	Frame_Shift_Del	DEL	C	TCGA-06-2567-01A-01D-1494-08		842164	140371267	35	5637											
CNTNAP3	79937	broad.mit.edu	37	chr9	39078395	39078396	+	Frame_Shift_Del	DEL	AG	AG	-																															ttgttacctccgatgacagcAgagtctcttctgtctgcatt																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:39078395_39078396delAG	ENST00000297668.6	-	23	3804_3805	c.3731_3732delCT	c.(3730-3732)tctfs	p.S1244fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.S1163fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1244					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGATGACAGCAGAGTCTCTTCT	0.436																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(3730-3732)tctfs		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.																																				SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39078395_39078396delAG	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3731_3732delCT	9.37:g.39078397_39078398delAG	ENSP00000297668:p.Ser1244fs					CNTNAP3_uc004abj.3_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.2_Non-coding_Transcript	p.S1244fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	22	3970_3971	-			1244					B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	c.3731_3732delCT	CCDS6616.1																																																																																				0.436	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		-	39078396	AG	-	39078395	7	5	83	1	0	1	0	1	0	0	0	0	3648	175	7	0	142	0	CNTNAP3	9	39078395	Frame_Shift_Del	DEL	AG	TCGA-06-2567-01A-01D-1494-08	38236231	39078395	102135036	36	5638											
OR1N1	138883	broad.mit.edu	37	chr9	125289116	125289116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtgtgagtcagggcaaCgatattggtgaggacccagc	11	7	15	8	2	1	2	1	2	0	0	1	5	1	3	1	3	3	1	1	3	3	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:125289116C>T	ENST00000304880.2	-	1	456	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCAGGGCAACGATATTGGTG	0.537																																						uc004bmn.1																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(457-459)Gtt>Att		Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.							122	97	106					9																	125289116		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289116C>T	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.457G>A	9.37:g.125289116C>T	ENSP00000306974:p.Val153Ile						p.V153I	NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN			0	457	-			153					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.457G>A	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	c	5.104	0.204738	0.09704	.	.	ENSG00000171505	ENST00000304880	T	0.35789	1.29	3.54	-5.33	0.02713	GPCR, rhodopsin-like superfamily (1);	0.917486	0.08812	N	0.890083	T	0.14960	0.0361	N	0.20445	0.575	0.09310	N	1	P	0.35307	0.494	B	0.26416	0.069	T	0.20472	-1.0274	10	0.21014	T	0.42	.	5.9819	0.19411	0.131:0.2691:0.5144:0.0854	.	153	Q8NGS0	OR1N1_HUMAN	I	153	ENSP00000306974:V153I	ENSP00000306974:V153I	V	-	1	0	OR1N1	124328937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.345000	0.00129	-0.825000	0.04290	-1.530000	0.00923	GTT		0.537	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			T	125289116	C	T	125289116	3	4	83	1	0	0	0	0	1	0	0	0	10969	536	19	1	482	1	OR1N1	9	125289116	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	86210721	125289116	15924315	37	5639											
DBH	1621	broad.mit.edu	37	chr9	136508597	136508597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatggaagtcttccagtgCgcccccgagatggacagcgt	9	7	12	13	3	1	1	0	0	1	1	2	4	2	3	3	2	2	0	3	2	1	1	rs141816448	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:136508597C>T	ENST00000393056.2	+	4	819	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	269					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.C269C(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCTTCCAGTGCGCCCCCGAGA	0.662													C|||	3	0.000599042	0	0	5008	,	,		14338	0		0.001	False		,,,				2504	0.002					uc004cel.3																			1	Substitution - coding silent(1)	p.C269C(2)	large_intestine(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(805-807)tgC>tgT		Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	Dopamine(DB00988)|Vitamin C(DB00126)	C		1,4405	2.1+/-5.4	0,1,2202	78	76	77		807	-2.6	0.1	9	dbSNP_134	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		269/618	136508597	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508597C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.807C>T	9.37:g.136508597C>T							p.C269C	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	816	+			269					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.807C>T	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136508597	C	T	136508597	2	4	83	1	0	0	0	0	0	0	0	1	4250	776	27	1		1	DBH	9	136508597	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	11219481	136508597	4704834	38	5640											
DLG5	9231	broad.mit.edu	37	chr10	79581860	79581860	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctctgagggaatacCtaggcagggattgcagagga	12	6	17	6	0	1	2	0	1	1	1	1	7	1	6	1	5	3	3	1	5	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:79581860C>G	ENST00000372391.2	-	15	2388		c.e15-1		DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)						apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGGGAATACCTAGGCAGGGA	0.512																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.e15-1		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							46	50	48					10																	79581860		2203	4299	6502	SO:0001630	splice_region_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581860C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2383-1G>C	10.37:g.79581860C>G						DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice	p.V795_splice	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2453	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		795			PDZ 2.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Splice_Site	SNP	ENST00000372391.2	37	c.2383_splice	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.027048	0.35797	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG5	79251866	1.000000	0.71417	0.996000	0.52242	0.313000	0.28021	7.285000	0.78660	2.607000	0.88179	0.609000	0.83330	.		0.512	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		Intron	G	79581860	C	G	79581860	5	3	83	1	0	0	0	0	0	0	1	0	4558	695	24	5	3449	5	DLG5	10	79581860	Splice_Site	SNP	C	TCGA-06-2567-01A-01D-1494-08		79581860	55952887	39	5641											
HSPA12A	259217	broad.mit.edu	37	chr10	118464692	118464692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgcattccggctccttgGtgaagctgtaggcatagcca	8	10	13	10	1	0	1	0	1	0	0	2	2	2	2	3	4	3	5	3	4	3	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:118464692G>A	ENST00000369209.3	-	3	328	c.224C>T	c.(223-225)aCc>aTc	p.T75I		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	75						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGGCTCCTTGGTGAAGCTGTA	0.582																																						uc001lct.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(223-225)aCc>aTc		Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.							114	124	121					10																	118464692		2156	4267	6423	SO:0001583	missense	259217						ATP binding	g.chr10:118464692G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.224C>T	10.37:g.118464692G>A	ENSP00000358211:p.Thr75Ile					HSPA12A_uc001lcu.3_5'UTR	p.T75I	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	2	329	-			75						Missense_Mutation	SNP	ENST00000369209.3	37	c.224C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007093	0.54361	.	.	ENSG00000165868	ENST00000369209	T	0.03982	3.74	5.93	5.02	0.67125	.	0.243459	0.47852	D	0.000209	T	0.04634	0.0126	N	0.16307	0.4	0.50813	D	0.999893	B	0.16802	0.019	B	0.16289	0.015	T	0.44772	-0.9306	10	0.37606	T	0.19	.	17.0473	0.86508	0.0:0.1272:0.8728:0.0	.	75	O43301	HS12A_HUMAN	I	75	ENSP00000358211:T75I	ENSP00000358211:T75I	T	-	2	0	HSPA12A	118454682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.586000	0.74067	1.478000	0.48253	0.655000	0.94253	ACC		0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		A	118464692	G	A	118464692	3	1	83	1	0	0	0	0	1	0	0	0	7404	1261	44	3	1843	3	HSPA12A	10	118464692	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	38882832	118464692	17070055	40	5642											
DNHD1	144132	broad.mit.edu	37	chr11	6589084	6589084	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaactggctgccaagtaTcagcaggtttgaacctagtt	12	10	10	9	0	1	2	1	1	0	1	1	2	1	2	2	2	4	5	2	2	5	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:6589084T>G	ENST00000527990.2	+	34	12345	c.12345T>G	c.(12343-12345)taT>taG	p.Y4115*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.Y4115*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4115					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCCAAGTATCAGCAGGTTT	0.562																																						uc001mdw.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(12343-12345)taT>taG		Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.							29	29	29					11																	6589084		2018	4173	6191	SO:0001587	stop_gained	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6589084T>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12345T>G	11.37:g.6589084T>G	ENSP00000436180:p.Tyr4115*					DNHD1_uc001mea.4_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.3_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.3_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.2_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.3_5'Flank	p.Y4115*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	12909	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4115					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	c.12345T>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	55	23.589366	0.99956	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	.	.	.	4.65	-0.642	0.11486	.	0.563260	0.17764	N	0.162807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.487	5.7315	0.18042	0.0:0.3963:0.2205:0.3832	.	.	.	.	X	4115;4115;383;383	.	ENSP00000254579:Y4115X	Y	+	3	2	DNHD1	6545660	0.000000	0.05858	0.010000	0.14722	0.894000	0.52154	-0.231000	0.09069	0.010000	0.14839	0.459000	0.35465	TAT		0.562	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		G	6589084	T	G	6589084	4	3	83	1	0	0	0	0	0	1	0	0	4668	1442	50	5	12488	5	DNHD1	11	6589084	Nonsense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08		6589084	128417432	41	5643											
OR5M1	390168	broad.mit.edu	37	chr11	56380101	56380101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggattacatctgtgttcCgtaggctatagatcaatggg	11	12	11	7	1	2	1	1	0	1	1	3	2	3	2	1	3	1	3	1	3	6	5	rs376562056		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56380101C>T	ENST00000526538.1	-	1	877	c.878G>A	c.(877-879)cGg>cAg	p.R293Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCTGTGTTCCGTAGGCTATA	0.398																																						uc001nja.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(877-879)cGg>cAg		Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.		C	GLN/ARG	1,3689		0,1,1844	179	174	175		878	2.8	0.7	11		175	0,8204		0,0,4102	no	missense	OR5M1	NM_001004740.1	43	0,1,5946	TT,TC,CC		0.0,0.0271,0.0084	possibly-damaging	293/316	56380101	1,11893	1845	4102	5947	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380101C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.878G>A	11.37:g.56380101C>T	ENSP00000435416:p.Arg293Gln					OR8U8_uc001nit.2_Intron	p.R293Q	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			0	878	-			293					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.878G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	8.867	0.948321	0.18356	2.71E-4	0.0	ENSG00000255012	ENST00000526538	T	0.41065	1.01	3.71	2.79	0.32731	.	.	.	.	.	T	0.37919	0.1021	M	0.72118	2.19	0.09310	N	1	P	0.43094	0.799	B	0.36378	0.223	T	0.34453	-0.9828	9	0.72032	D	0.01	.	6.9789	0.24692	0.0:0.7851:0.0:0.2149	.	293	Q8NGP8	OR5M1_HUMAN	Q	293	ENSP00000435416:R293Q	ENSP00000435416:R293Q	R	-	2	0	OR5M1	56136677	0.002000	0.14202	0.665000	0.29768	0.145000	0.21501	1.522000	0.35921	0.809000	0.34255	0.280000	0.19369	CGG		0.398	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		T	56380101	C	T	56380101	3	4	83	1	0	0	0	0	1	0	0	0	11172	652	23	2	73	2	OR5M1	11	56380101	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	49791017	56380101	78626415	42	5644											
OR5AR1	219493	broad.mit.edu	37	chr11	56431862	56431862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcgttcagctgaaggccGccttaaggctttctccacct	8	11	9	13	2	2	1	1	1	1	0	3	1	2	1	4	2	2	3	4	2	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56431862G>A	ENST00000302969.2	+	1	725	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGAAGGCCGCCTTAAGGCT	0.483																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(700-702)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							159	134	143					11																	56431862		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431862G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.701G>A	11.37:g.56431862G>A	ENSP00000302639:p.Arg234His					OR8U8_uc001nit.2_Intron	p.R234H	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	701	+			234					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.701G>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.971987	0.18736	.	.	ENSG00000172459	ENST00000302969	T	0.00333	8.07	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.140758	0.33180	N	0.005192	T	0.00875	0.0029	M	0.89840	3.065	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.36986	-0.9725	10	0.54805	T	0.06	.	12.6951	0.56999	0.0823:0.0:0.9177:0.0	.	234	Q8NGP9	O5AR1_HUMAN	H	234	ENSP00000302639:R234H	ENSP00000302639:R234H	R	+	2	0	OR5AR1	56188438	0.000000	0.05858	0.997000	0.53966	0.284000	0.27059	0.673000	0.25203	2.554000	0.86153	0.573000	0.79308	CGC		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		A	56431862	G	A	56431862	3	1	83	1	0	0	0	0	1	0	0	0	11145	1087	38	1	703	1	OR5AR1	11	56431862	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	51761	56431862	78574654	43	5645											
SORL1	6653	broad.mit.edu	37	chr11	121444999	121444999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcgttgccaggagtctggGacttgtatcccactgtccta	6	14	10	11	1	1	0	0	0	1	0	4	2	3	2	3	2	1	2	3	2	2	5	rs371319784		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:121444999G>A	ENST00000260197.7	+	24	3516	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	SORL1_ENST00000525532.1_Silent_p.G73G|SORL1_ENST00000532694.1_5'Flank|SORL1_ENST00000534286.1_5'Flank	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1129	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGGAGTCTGGGACTTGTATCC	0.453																																						uc001pxx.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3385-3387)ggG>ggA		Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.		G		0,4406		0,0,2203	234	198	210		3387	3.8	1	11		210	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SORL1	NM_003105.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		1129/2215	121444999	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121444999G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3387G>A	11.37:g.121444999G>A						SORL1_uc010rzp.1_5'Flank	p.G1129G	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	23	3516	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1129			LDL-receptor class A 2.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.3387G>A	CCDS8436.1																																																																																				0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121444999	G	A	121444999	2	1	83	1	0	0	0	0	0	0	0	1	14934	1161	41	3		3	SORL1	11	121444999	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	65013137	121444999	13561517	44	5646											
PIP4K2C	79837	broad.mit.edu	37	chr12	57988971	57988971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcttcaggaacctccGtgatcgatttggcattgatg	8	12	11	10	2	2	2	1	2	1	0	4	4	3	3	3	3	1	1	3	3	1	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:57988971G>A	ENST00000354947.5	+	3	351	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R112H|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R94H|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R112H			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	112	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGAACCTCCGTGATCGATTT	0.443																																						uc001sou.3																			0		p.L111L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(334-336)cGt>cAt		Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.							182	189	187					12																	57988971		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57988971G>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.335G>A	12.37:g.57988971G>A	ENSP00000347032:p.Arg112His					PIP4K2C_uc001sot.3_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.2_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.2_Missense_Mutation_p.R112H	p.R112H	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN			2	466	+	Melanoma(17;0.122)		112			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.335G>A	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024322	0.93462	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.48	4.59	0.56863	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.053786	0.64402	N	0.000002	D	0.83566	0.5282	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.99;0.965	D	0.89099	0.3488	10	0.87932	D	0	-7.7666	13.6413	0.62253	0.0763:0.0:0.9236:0.0	.	112;94;112	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	H	112;112;112;91;94;112	ENSP00000412035:R112H;ENSP00000439878:R112H;ENSP00000450197:R91H;ENSP00000447390:R94H;ENSP00000347032:R112H	ENSP00000347032:R112H	R	+	2	0	PIP4K2C	56275238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.755000	0.98912	1.463000	0.47967	0.462000	0.41574	CGT		0.443	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		A	57988971	G	A	57988971	3	1	83	1	0	0	0	0	1	0	0	0	11938	1145	40	1	345	1	PIP4K2C	12	57988971	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		57988971	75862924	45	5647											
KCNC2	3747	broad.mit.edu	37	chr12	75441962	75441962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccatcagaagcacacGtgtaatcacctgtcgtcagt	10	10	7	14	2	3	1	3	0	0	1	6	1	5	1	3	0	1	2	3	0	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:75441962G>A	ENST00000549446.1	-	4	2431	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	KCNC2_ENST00000393288.2_Missense_Mutation_p.T584M|KCNC2_ENST00000550433.1_Missense_Mutation_p.T584M|KCNC2_ENST00000298972.1_Missense_Mutation_p.T584M|KCNC2_ENST00000548513.1_Missense_Mutation_p.T584M|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000341669.3_Missense_Mutation_p.T584M	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	584					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AGAAGCACACGTGTAATCACC	0.448																																						uc001sxg.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1750-1752)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.							320	256	277					12																	75441962		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75441962G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1751C>T	12.37:g.75441962G>A	ENSP00000449253:p.Thr584Met					KCNC2_uc009zry.3_Missense_Mutation_p.T584M|KCNC2_uc001sxe.3_Missense_Mutation_p.T584M|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	p.T584M	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	2295	-			584					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1751C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235169	0.79800	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000393288	D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.33;-4.35;-4.35;-4.35	5.55	5.55	0.83447	.	0.464989	0.21755	N	0.069609	D	0.97253	0.9102	L	0.48642	1.525	0.46185	D	0.99891	D;D;D	0.69078	0.996;0.982;0.997	P;P;P	0.56343	0.796;0.629;0.621	D	0.97828	1.0261	10	0.72032	D	0.01	.	19.4922	0.95054	0.0:0.0:1.0:0.0	.	584;584;584	Q96PR1-2;Q96PR1;Q96PR1-3	.;KCNC2_HUMAN;.	M	584	ENSP00000448301:T584M;ENSP00000449941:T584M;ENSP00000449253:T584M;ENSP00000340121:T584M;ENSP00000298972:T584M;ENSP00000376966:T584M	ENSP00000298972:T584M	T	-	2	0	KCNC2	73728229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.016000	0.70798	2.604000	0.88044	0.585000	0.79938	ACG		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75441962	G	A	75441962	3	1	83	1	0	0	0	0	1	0	0	0	8015	1145	40	1	239	1	KCNC2	12	75441962	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	17452991	75441962	58409933	46	5648											
SCYL2	55681	broad.mit.edu	37	chr12	100711649	100711649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgatgagataaagaaCagtgttctacccatggttta	12	12	8	9	0	1	3	0	2	1	2	2	4	2	3	3	1	2	2	3	1	5	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:100711649C>T	ENST00000360820.2	+	10	1778	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	447					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGATAAAGAACAGTGTTCTAC	0.333																																						uc001thn.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1339-1341)aaC>aaT		Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.							96	93	94					12																	100711649		2203	4299	6502	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100711649C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1341C>T	12.37:g.100711649C>T						SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	p.N447N	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			9	1391	+			447					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1341C>T	CCDS9076.1																																																																																				0.333	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		T	100711649	C	T	100711649	2	4	83	1	0	0	0	0	0	0	0	1	13948	477	17	3		3	SCYL2	12	100711649	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	25269687	100711649	33140246	47	5649											
KSR2	283455	broad.mit.edu	37	chr12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-																															cggcgtggcactaggagggaGggggggtgctggcgaggagg																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:117977605delG	ENST00000339824.5	-	10	2333	c.1606delC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Del_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Del_p.L507fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)ctcfs		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							71	86	81					12																	117977605		2132	4217	6349	SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977605delG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1606delC	12.37:g.117977605delG	ENSP00000339952:p.Leu536fs						p.L507fs	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			9	1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Del	DEL	ENST00000339824.5	37	c.1519delC																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		-	117977605	G	-	117977605	7	5	83	1	0	1	0	1	0	0	0	0	8582	1000	35	0	1290	0	KSR2	12	117977605	Frame_Shift_Del	DEL	G	TCGA-06-2567-01A-01D-1494-08	17265956	117977605	15874290	48	5650											
PIWIL1	9271	broad.mit.edu	37	chr12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggctgttgatctatacgcGaagaaattatgaagcagcca	13	10	10	8	2	1	3	0	2	1	1	1	4	1	3	1	1	3	3	1	1	6	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:130841563G>A	ENST00000245255.3	+	13	1777	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	502					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348																																						uc001uik.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1504-1506)cGa>cAa		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							83	82	82					12																	130841563		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841563G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1505G>A	12.37:g.130841563G>A	ENSP00000245255:p.Arg502Gln					PIWIL1_uc001uij.2_Missense_Mutation_p.R502Q	p.R502Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1776	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		502					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1505G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466501	0.43839	.	.	ENSG00000125207	ENST00000245255	T	0.14144	2.53	5.41	4.51	0.55191	Ribonuclease H-like (1);	0.052439	0.85682	D	0.000000	T	0.18841	0.0452	L	0.49350	1.555	0.53688	D	0.999979	D;P	0.64830	0.994;0.87	P;B	0.49752	0.621;0.269	T	0.01545	-1.1328	10	0.23302	T	0.38	-5.8209	13.6369	0.62227	0.0762:0.0:0.9238:0.0	.	502;502	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Q	502	ENSP00000245255:R502Q	ENSP00000245255:R502Q	R	+	2	0	PIWIL1	129407516	1.000000	0.71417	0.268000	0.24571	0.707000	0.40811	6.546000	0.73887	2.512000	0.84698	0.655000	0.94253	CGA		0.348	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130841563	G	A	130841563	3	1	83	1	0	0	0	0	1	0	0	0	11957	1058	37	2	1551	2	PIWIL1	12	130841563	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	12863958	130841563	3010332	49	5651											
HEATR4	399671	broad.mit.edu	37	chr14	73974950	73974950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacagggtaagtagcagtaCcttccagagccaagcactga	13	7	10	11	0	1	2	1	1	0	1	2	2	2	2	3	1	4	5	3	1	4	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr14:73974950C>T	ENST00000553558.1	-	9	2090	c.1769G>A	c.(1768-1770)gGt>gAt	p.G590D	HEATR4_ENST00000560393.1_Missense_Mutation_p.G543D|HEATR4_ENST00000334988.2_Missense_Mutation_p.G590D	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	590										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTAGCAGTACCTTCCAGAGC	0.478																																						uc021rwe.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1768-1770)gGt>gAt		Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.							148	139	142					14																	73974950		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73974950C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1769G>A	14.37:g.73974950C>T	ENSP00000450444:p.Gly590Asp					HEATR4_uc021rwf.1_Missense_Mutation_p.G543D|HEATR4_uc010tub.1_Missense_Mutation_p.G590D	p.G590D	NM_001220484	NP_001207413				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	8	2117	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1769G>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391855	0.83011	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.13420	2.59	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000031	T	0.35364	0.0929	L	0.55481	1.735	0.49130	D	0.999758	D	0.89917	1.0	D	0.91635	0.999	T	0.01428	-1.1357	10	0.62326	D	0.03	-13.13	18.4491	0.90696	0.0:1.0:0.0:0.0	.	590	Q86WZ0	HEAT4_HUMAN	D	590;543	ENSP00000450444:G590D	ENSP00000335447:G543D	G	-	2	0	HEATR4	73044703	0.994000	0.37717	0.996000	0.52242	0.910000	0.53928	4.977000	0.63792	2.651000	0.90000	0.563000	0.77884	GGT		0.478	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		T	73974950	C	T	73974950	3	4	83	1	0	0	0	0	1	0	0	0	7030	507	18	3	1351	3	HEATR4	14	73974950	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		73974950	33374590	50	5652											
B2M	567	broad.mit.edu	37	chr15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-																															tttcagcaaggactggtcttTctatctcttgtactacactg																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45007798_45007801delTCTA	ENST00000558401.1	+	2	315_318	c.245_248delTCTA	c.(244-249)ttctatfs	p.FY82fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.FY82fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.FY82fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	82	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436																																						uc001zuc.3																			0		p.F82V(1)|p.Y83*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(244-249)ttctatfs		Homo sapiens beta-2-microglobulin (B2M), mRNA.																																				SO:0001589	frameshift_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007798_45007801delTCTA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.245_248delTCTA	15.37:g.45007798_45007801delTCTA	ENSP00000452780:p.Phe82fs					B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron	p.F82fs	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	1	305_308	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	82			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	c.245_248delTCTA	CCDS10113.1																																																																																				0.436	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45007801	TCTA	-	45007798	7	5	83	1	0	1	0	1	0	0	0	0	1244	1783	62	0	251	0	B2M	15	45007798	Frame_Shift_Del	DEL	TCTA	TCGA-06-2567-01A-01D-1494-08		45007798	57523594	51	5653											
C15orf43	145645	broad.mit.edu	37	chr15	45249150	45249150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgacttcttgttcagctgtGatgcctcgcacccagacacg	7	10	9	15	3	2	2	1	1	1	1	3	3	2	2	3	0	2	3	3	0	0	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45249150G>C	ENST00000340827.3	+	2	138	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	41										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAGCTGTGATGCCTCGCA	0.577																																						uc001zuk.3																			0				NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(121-123)Gat>Cat		Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.							61	56	58					15																	45249150		2198	4298	6496	SO:0001583	missense	145645							g.chr15:45249150G>C	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.121G>C	15.37:g.45249150G>C	ENSP00000340644:p.Asp41His						p.D41H	NM_152448	NP_689661	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	1	135	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	41						Missense_Mutation	SNP	ENST00000340827.3	37	c.121G>C	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	-	15.31	2.794627	0.50102	.	.	ENSG00000167014	ENST00000340827	T	0.68181	-0.31	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000014	T	0.72977	0.3528	L	0.34521	1.04	0.40402	D	0.979657	D	0.89917	1.0	D	0.91635	0.999	T	0.76011	-0.3115	10	0.87932	D	0	.	13.6092	0.62065	0.0:0.0:1.0:0.0	.	41	Q8NHR7	CO043_HUMAN	H	41	ENSP00000340644:D41H	ENSP00000340644:D41H	D	+	1	0	C15orf43	43036442	1.000000	0.71417	0.972000	0.41901	0.159000	0.22180	4.901000	0.63259	2.666000	0.90696	0.643000	0.83706	GAT		0.577	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		C	45249150	G	C	45249150	3	2	83	1	0	0	0	0	1	0	0	0	1797	1290	45	5	127	5	C15orf43	15	45249150	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	241352	45249150	57282242	52	5654											
CYP11A1	1583	broad.mit.edu	37	chr15	74637444	74637444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtaatttccggagcccGccttcttgatgcgcctgtgc	5	11	11	14	4	1	1	0	1	1	0	2	3	2	2	5	1	3	1	5	1	1	4	rs121912811		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:74637444G>A	ENST00000268053.6	-	3	720	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A31V|CYP11A1_ENST00000358632.4_Missense_Mutation_p.A31V	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	189			A -> V (in AICSR; no loss of activity). {ECO:0000269|PubMed:12161514}.		biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCCGGAGCCCGCCTTCTTGAT	0.587																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	GRCh37	CS021747	CYP11A1	S	rs121912811	c.(565-567)gCg>gTg		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						90	86	87					15																	74637444		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637444G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.566C>T	15.37:g.74637444G>A	ENSP00000268053:p.Ala189Val					CYP11A1_uc002axs.2_Missense_Mutation_p.A31V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A31V|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.A189V	p.A189V	NM_000781	NP_001093243	P05108	CP11A_HUMAN			2	721	-			189		A -> V (in AICSR; no loss of activity).			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.566C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042817	0.19748	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.70045	-0.45;-0.45;-0.45	4.51	2.13	0.27403	.	0.304029	0.39146	N	0.001456	T	0.41488	0.1161	N	0.24115	0.695	0.23371	A	0.00218893	P;P;P	0.41710	0.76;0.672;0.63	B;B;B	0.34138	0.063;0.176;0.032	T	0.50224	-0.8853	9	0.56958	D	0.05	-5.1371	2.351	0.04283	0.0:0.2503:0.3544:0.3953	.	189;159;189	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	V	189;31;31;101	ENSP00000268053:A189V;ENSP00000351455:A31V;ENSP00000405488:A31V	ENSP00000268053:A189V	A	-	2	0	CYP11A1	72424497	0.739000	0.28196	0.253000	0.24343	0.001000	0.01503	0.973000	0.29422	0.595000	0.29777	-0.281000	0.10026	GCG		0.587	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			A	74637444	G	A	74637444	3	1	83	1	0	0	0	0	1	0	0	0	4144	1087	38	1	1027	1	CYP11A1	15	74637444	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	29388294	74637444	27893948	53	5655											
ZNF213	7760	broad.mit.edu	37	chr16	3187509	3187509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgctggctgcggccCgagctgcgtaccaaggagca	6	6	15	14	4	0	0	0	0	0	0	0	2	0	1	3	3	7	6	3	3	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:3187509C>T	ENST00000396878.3	+	2	703	c.228C>T	c.(226-228)ccC>ccT	p.P76P	ZNF213_ENST00000416391.2_5'UTR|RP11-473M20.14_ENST00000571449.1_RNA|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000574902.1_Silent_p.P76P|ZNF213_ENST00000576416.1_Silent_p.P76P	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCTGCGGCCCGAGCTGCGTA	0.662																																						uc010uws.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(226-228)ccC>ccT		Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.							34	38	37					16																	3187509		2193	4294	6487	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187509C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.228C>T	16.37:g.3187509C>T						ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.P76P|ZNF213_uc010bth.3_Silent_p.P76P|ZNF213_uc010uwt.2_Silent_p.P76P	p.P76P	NM_004220	NP_004211	O14771	ZN213_HUMAN			1	675	+			76			SCAN box.		A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.228C>T	CCDS10495.1																																																																																				0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		T	3187509	C	T	3187509	2	4	83	1	0	0	0	0	0	0	0	1	17766	639	23	2		2	ZNF213	16	3187509	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		3187509	87167244	54	5656											
CLN3	1201	broad.mit.edu	37	chr16	28489096	28489096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgttcacgtaggctgCgcctcccaggagcccctcat	7	8	12	14	2	2	0	2	0	0	0	3	2	3	1	4	3	2	3	4	3	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:28489096C>T	ENST00000569430.1	-	16	1978	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	CLN3_ENST00000395653.4_Missense_Mutation_p.A287T|CLN3_ENST00000354630.5_Missense_Mutation_p.A370T|CLN3_ENST00000333496.9_Missense_Mutation_p.A363T|CLN3_ENST00000359984.7_Missense_Mutation_p.A387T|CLN3_ENST00000565316.1_Missense_Mutation_p.A370T|CLN3_ENST00000357806.7_Missense_Mutation_p.A288T|CLN3_ENST00000535392.1_Missense_Mutation_p.A309T|CLN3_ENST00000568224.1_Missense_Mutation_p.A309T|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.A333T|CLN3_ENST00000360019.2_Missense_Mutation_p.A387T|CLN3_ENST00000355477.5_Missense_Mutation_p.A339T			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	387					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACGTAGGCTGCGCCTCCCAGG	0.612																																						uc002dpo.3																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(1159-1161)Gca>Aca		Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.							89	91	90					16																	28489096		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28489096C>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1159G>A	16.37:g.28489096C>T	ENSP00000454229:p.Ala387Thr					NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.A309T|CLN3_uc002dpm.3_Missense_Mutation_p.A333T|CLN3_uc010vcu.2_Missense_Mutation_p.A287T|CLN3_uc010vcv.2_Missense_Mutation_p.A363T|CLN3_uc002dpp.3_Missense_Mutation_p.A387T|CLN3_uc021tfs.1_Missense_Mutation_p.A234T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	p.A387T	NM_000086	NP_001035897	Q13286	CLN3_HUMAN			13	1482	-			387					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.1159G>A	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	c	31	5.085354	0.94100	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);	0.112592	0.64402	D	0.000016	D	0.98738	0.9576	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.995;0.998;0.995;1.0	D	0.99470	1.0945	10	0.56958	D	0.05	-8.1125	16.4287	0.83833	0.0:1.0:0.0:0.0	.	363;370;285;287;333;339;387;288	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	T	309;387;387;370;339;333;287;288	ENSP00000443221:A309T;ENSP00000353073:A387T;ENSP00000353116:A387T;ENSP00000346650:A370T;ENSP00000347660:A339T;ENSP00000350523:A333T;ENSP00000379014:A287T;ENSP00000350457:A288T	ENSP00000346650:A370T	A	-	1	0	CLN3	28396597	1.000000	0.71417	0.162000	0.22713	0.942000	0.58702	4.762000	0.62250	2.487000	0.83934	0.556000	0.70494	GCA		0.612	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			T	28489096	C	T	28489096	3	4	83	1	0	0	0	0	1	0	0	0	3543	768	27	1	165	1	CLN3	16	28489096	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	25301587	28489096	61865657	55	5657											
ORAI3	93129	broad.mit.edu	37	chr16	30960835	30960835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgctctcgggcttcgcCatggtgaggggccgggaggg	3	8	19	11	3	1	1	0	1	1	0	3	2	1	2	3	6	1	2	3	6	0	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:30960835C>T	ENST00000318663.4	+	1	449	c.225C>T	c.(223-225)gcC>gcT	p.A75A	ORAI3_ENST00000562699.1_Silent_p.A75A|ORAI3_ENST00000566237.1_Silent_p.A75A|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	75					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGGCTTCGCCATGGTGAGGG	0.692																																						uc002eac.3																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(223-225)gcC>gcT		Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.							6	7	7					16																	30960835		1988	4041	6029	SO:0001819	synonymous_variant	93129					integral to membrane	protein binding	g.chr16:30960835C>T	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.225C>T	16.37:g.30960835C>T							p.A75A	NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN			0	431	+			75					Q96BI8	Silent	SNP	ENST00000318663.4	37	c.225C>T	CCDS10697.1																																																																																				0.692	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		T	30960835	C	T	30960835	2	4	83	1	0	0	0	0	0	0	0	1	11259	581	21	3		3	ORAI3	16	30960835	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	2471739	30960835	59393918	56	5658											
CHST5	23563	broad.mit.edu	37	chr16	75563755	75563755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgaatggctgccgCgtgcacagtgtcttgcatac	7	9	13	12	2	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	2	2	rs77436937		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:75563755C>T	ENST00000336257.3	-	3	1922	c.528G>A	c.(526-528)acG>acA	p.T176T	CHST5_ENST00000541075.1_Silent_p.T182T|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ATGGCTGCCGCGTGCACAGTG	0.667																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(544-546)acG>acA		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							96	102	100					16																	75563755		2197	4299	6496	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563755C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.528G>A	16.37:g.75563755C>T						CHST5_uc002fei.3_Silent_p.T176T|CHST5_uc021tlk.1_Silent_p.T176T	p.T182T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	867	-			176					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.546G>A	CCDS10919.1																																																																																				0.667	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		T	75563755	C	T	75563755	2	4	83	1	0	0	0	0	0	0	0	1	3407	755	27	1		1	CHST5	16	75563755	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	44602920	75563755	14790998	57	5659											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcacaaacacgcacctCaaagctgttccgtcccagta	13	6	7	15	2	1	0	1	0	0	0	3	0	3	0	3	1	2	5	3	1	3	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACGCACCTCAAAGCTGTTC	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(54)|p.E271*(34)|p.F270L(23)|p.F270C(16)|p.E271Q(9)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.E271V(6)|p.F270Y(5)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.E271_R273delEVR(2)|p.F270fs*72(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.S269_F270>I(2)|p.E271P(2)|p.E271del(2)|p.E271fs*34(2)|p.E271fs*35(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271fs*74(1)|p.S269_F270insX(1)|p.S269fs*21(1)|p.S269fs*34(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(811-813)Gag>Aag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							58	51	54					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.E271K	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577127	C	T	7577127	3	4	83	1	0	0	0	0	1	0	0	0	16378	835	29	3	475	3	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		7577127	73618083	58	5660											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	p.R196*	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	83	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	1136	7578263	73616947	59	5661											
MYH13	8735	broad.mit.edu	37	chr17	10206539	10206539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctgcctcttgtaagActtcactttggcctgcagct	6	13	8	14	0	3	1	2	0	1	1	3	1	3	1	3	1	4	3	3	1	1	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:10206539A>G	ENST00000418404.3	-	38	5804	c.5641T>C	c.(5641-5643)Tct>Cct	p.S1881P	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S1881P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1881					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTGTAAGACTTCACTTTG	0.612																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5641-5643)Tct>Cct		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							141	146	145					17																	10206539		2130	4263	6393	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206539A>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5641T>C	17.37:g.10206539A>G	ENSP00000404570:p.Ser1881Pro						p.S1881P	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			38	5731	-			1881					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5641T>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125978	0.56721	.	.	ENSG00000006788	ENST00000252172	T	0.78364	-1.17	3.81	-3.18	0.05186	Myosin tail (1);	.	.	.	.	D	0.82903	0.5138	M	0.89904	3.07	0.31441	N	0.67191	B	0.20261	0.043	B	0.41440	0.357	T	0.80754	-0.1241	9	0.72032	D	0.01	.	6.2211	0.20681	0.4435:0.3879:0.0:0.1687	.	1881	Q9UKX3	MYH13_HUMAN	P	1881	ENSP00000252172:S1881P	ENSP00000252172:S1881P	S	-	1	0	MYH13	10147264	0.000000	0.05858	0.773000	0.31616	0.923000	0.55619	-0.712000	0.05013	-0.787000	0.04510	-0.488000	0.04728	TCT		0.612	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		G	10206539	A	G	10206539	3	3	83	1	0	0	0	0	1	0	0	0	10032	275	10	4	187	4	MYH13	17	10206539	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	2628276	10206539	70988671	60	5662											
CCDC144A	9720	broad.mit.edu	37	chr17	16593762	16593762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggggctgaggggtctccGaagccggcagtctacgccac	7	5	17	12	3	2	1	0	1	2	0	3	3	2	2	3	6	2	2	3	6	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:16593762G>A	ENST00000360524.8	+	1	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.P16P|CCDC144A_ENST00000456009.1_Silent_p.P16P|RNU6-405P_ENST00000516637.1_RNA|RP11-219A15.1_ENST00000448331.3_Silent_p.P16P|CCDC144A_ENST00000443444.2_Silent_p.P16P|CCDC144A_ENST00000399273.1_Silent_p.P16P	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672																																						uc002gqk.1																			1	Substitution - coding silent(1)	p.P16P(1)	urinary_tract(1)								c.(46-48)ccG>ccA		Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.							19	22	21					17																	16593762		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593762G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.48G>A	17.37:g.16593762G>A							p.P16P	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			0	124	+			16					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.48G>A	CCDS45621.1																																																																																				0.672	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			A	16593762	G	A	16593762	2	1	83	1	0	0	0	0	0	0	0	1	2777	1045	37	2		2	CCDC144A	17	16593762	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	6387223	16593762	64601448	61	5663											
HELZ	9931	broad.mit.edu	37	chr17	65104714	65104714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgaggaagatgctggaGgtgaggatggtgatggtgtg	8	9	21	3	1	0	4	0	3	0	1	0	7	0	7	0	7	1	2	0	7	1	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:65104714G>A	ENST00000358691.5	-	30	4784	c.4618C>T	c.(4618-4620)Ctc>Ttc	p.L1540F	HELZ_ENST00000580168.1_Missense_Mutation_p.L1541F	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1540						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGATGCTGGAGGTGAGGATGG	0.577																																						uc010wqk.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4621-4623)Ctc>Ttc		Homo sapiens helicase with zinc finger (HELZ), mRNA.							114	131	125					17																	65104714		2190	4267	6457	SO:0001583	missense	9931							g.chr17:65104714G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4618C>T	17.37:g.65104714G>A	ENSP00000351524:p.Leu1540Phe					HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.L1540F|HELZ_uc010der.3_Missense_Mutation_p.L84F	p.L1541F	NM_014877	NP_055692					29	4808	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4621C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044857	0.36085	.	.	ENSG00000198265	ENST00000358691	D	0.88586	-2.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	L	0.36672	1.1	0.54753	D	0.999989	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.91526	0.5238	10	0.66056	D	0.02	-11.0694	13.2324	0.59951	0.0762:0.0:0.9238:0.0	.	1541;1540	B7ZLW2;P42694	.;HELZ_HUMAN	F	1540	ENSP00000351524:L1540F	ENSP00000351524:L1540F	L	-	1	0	HELZ	62535176	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.099000	0.64554	2.462000	0.83206	0.551000	0.68910	CTC		0.577	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		A	65104714	G	A	65104714	3	1	83	1	0	0	0	0	1	0	0	0	7049	1000	35	3	1226	3	HELZ	17	65104714	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	48510952	65104714	16090496	62	5664											
DSG1	1828	broad.mit.edu	37	chr18	28934952	28934952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtaatccaaccaacttcCggcatgataggtagtctgag	13	9	10	9	1	1	3	0	2	1	1	3	3	3	3	3	2	2	3	3	2	5	4	rs147922509	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr18:28934952C>T	ENST00000257192.4	+	15	3005	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S290S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	931					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACCAACTTCCGGCATGATAG	0.463													C|||	3	0.000599042	0.0023	0	5008	,	,		23942	0		0	False		,,,				2504	0					uc002kwp.3																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2791-2793)tcC>tcT		Homo sapiens desmoglein 1 (DSG1), mRNA.		C		5,4401	9.9+/-24.2	0,5,2198	232	224	226		2793	2.2	1	18	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DSG1	NM_001942.2		0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461		931/1050	28934952	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934952C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2793C>T	18.37:g.28934952C>T						DSG1_uc010xbp.2_Silent_p.S290S	p.S931S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		14	3005	+			931					B7Z845	Silent	SNP	ENST00000257192.4	37	c.2793C>T	CCDS11896.1																																																																																				0.463	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28934952	C	T	28934952	2	4	83	1	0	0	0	0	0	0	0	1	4776	639	23	2		2	DSG1	18	28934952	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		28934952	49142296	63	5665											
STXBP2	6813	broad.mit.edu	37	chr19	7707328	7707328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtatgagaccaccGggctgagcgaggcgcgggag	8	4	17	12	4	0	2	0	2	0	1	1	5	1	3	4	4	1	2	4	4	1	1	rs187320742	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:7707328G>A	ENST00000221283.5	+	10	839	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	STXBP2_ENST00000441779.2_Missense_Mutation_p.G281R|STXBP2_ENST00000414284.2_Missense_Mutation_p.G267R	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	270					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGACCACCGGGCTGAGCGA	0.632																																						uc010xjr.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(841-843)Ggg>Agg		Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.							130	134	132					19																	7707328		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707328G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.808G>A	19.37:g.7707328G>A	ENSP00000221283:p.Gly270Arg					STXBP2_uc002mha.4_Missense_Mutation_p.G270R|STXBP2_uc002mhb.4_Missense_Mutation_p.G267R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	p.G281R	NM_006949	NP_008880	Q15833	STXB2_HUMAN			9	886	+			270					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.841G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060546	0.55432	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77877	-1.13;-1.13;-1.13	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.998;0.999	D;P;P;D	0.67231	0.926;0.845;0.879;0.95	D	0.89853	0.4011	10	0.72032	D	0.01	-6.1005	15.1021	0.72288	0.0:0.0:1.0:0.0	.	281;236;267;270	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	R	270;267;281;270	ENSP00000221283:G270R;ENSP00000409471:G267R;ENSP00000413606:G281R	ENSP00000221283:G270R	G	+	1	0	STXBP2	7613328	1.000000	0.71417	0.078000	0.20375	0.018000	0.09664	6.700000	0.74619	2.147000	0.66899	0.591000	0.81541	GGG		0.632	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		A	7707328	G	A	7707328	3	1	83	1	0	0	0	0	1	0	0	0	15352	1116	39	2	846	2	STXBP2	19	7707328	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		7707328	51421655	64	5666											
ATG4D	84971	broad.mit.edu	37	chr19	10659590	10659590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccagtgtacaaggcGgatgtggcacgcctggtggc	6	8	15	12	2	0	0	0	0	0	0	2	1	2	1	3	5	1	2	3	5	2	1	rs531176373		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:10659590G>A	ENST00000309469.4	+	6	1019	c.846G>A	c.(844-846)gcG>gcA	p.A282A	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	282					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTACAAGGCGGATGTGGCAC	0.647																																						uc002mov.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(844-846)gcG>gcA		Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.							94	79	84					19																	10659590		2203	4300	6503	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10659590G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.846G>A	19.37:g.10659590G>A						ATG4D_uc010xlh.2_Silent_p.A219A|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron	p.A282A	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		5	966	+			282					Q969K0	Silent	SNP	ENST00000309469.4	37	c.846G>A	CCDS12241.1																																																																																				0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		A	10659590	G	A	10659590	2	1	83	1	0	0	0	0	0	0	0	1	1099	1103	39	2		2	ATG4D	19	10659590	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	2952262	10659590	48469393	65	5667											
ZNF676	163223	broad.mit.edu	37	chr19	22363176	22363176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagcatgaatt	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	1	1	1	3	1	1	2	6			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:22363176G>T	ENST00000397121.2	-	3	1660	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.433																																						uc002nqs.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1342-1344)cCc>cAc		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.							100	103	102					19																	22363176		2126	4254	6380	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363176G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1343C>A	19.37:g.22363176G>T	ENSP00000380310:p.Pro448His						p.P448H	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	1661	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	448					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1343C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.270452	0.40194	.	.	ENSG00000196109	ENST00000397121	T	0.17528	2.27	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39064	0.1064	M	0.90814	3.15	0.32594	N	0.526855	D	0.69078	0.997	P	0.61874	0.895	T	0.49184	-0.8966	9	0.66056	D	0.02	.	5.1401	0.14954	0.0:0.0:0.6581:0.3418	.	448	Q8N7Q3	ZN676_HUMAN	H	448	ENSP00000380310:P448H	ENSP00000380310:P448H	P	-	2	0	ZNF676	22155016	0.952000	0.32445	0.103000	0.21229	0.103000	0.19146	2.952000	0.49097	0.192000	0.20272	0.195000	0.17529	CCC		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363176	G	T	22363176	3	4	83	1	0	0	0	0	1	0	0	0	18080	1232	43	5	427	5	ZNF676	19	22363176	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	11703586	22363176	36765807	66	5668											
GRIK5	2901	broad.mit.edu	37	chr19	42558502	42558502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcatgaggctggtcccGtggggccaaatgttggccga	7	10	15	9	2	1	1	1	1	0	0	2	2	2	1	3	5	0	3	3	5	2	3	rs140981334	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:42558502G>A	ENST00000262895.3	-	8	1025	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	GRIK5_ENST00000593562.1_Silent_p.H342H|GRIK5_ENST00000301218.4_Silent_p.H342H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	342					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGCTGGTCCCGTGGGGCCAAA	0.652													G|||	2	0.000399361	0	0	5008	,	,		19044	0.001		0.001	False		,,,				2504	0					uc002osj.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1024-1026)caC>caT		Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	L-Glutamic Acid(DB00142)						85	69	75					19																	42558502		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558502G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1026C>T	19.37:g.42558502G>A						GRIK5_uc010eib.1_Silent_p.H261H	p.H342H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			7	1061	-		Prostate(69;0.059)	342					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1026C>T	CCDS12595.1																																																																																				0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42558502	G	A	42558502	2	1	83	1	0	0	0	0	0	0	0	1	6777	1136	40	1		1	GRIK5	19	42558502	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	20195326	42558502	16570481	67	5669											
ZNF28	7576	broad.mit.edu	37	chr19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttccatgtgtgatttgCgactgaaaactttctcacat	9	16	7	9	1	2	2	1	2	2	0	4	3	3	2	1	0	2	0	1	0	2	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:53303413C>T	ENST00000457749.2	-	4	1804	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R509H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1684-1686)cGc>cAc		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							106	102	103					19																	53303413		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303413C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1685G>A	19.37:g.53303413C>T	ENSP00000397693:p.Arg562His					ZNF28_uc002qac.3_Missense_Mutation_p.R508H|ZNF28_uc010eqe.3_Missense_Mutation_p.R508H|ZNF28_uc021uza.1_Missense_Mutation_p.R509H	p.R562H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	1842	-			562					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1685G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.397880	0.01175	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	L	0.28054	0.825	0.09310	N	1	B	0.23185	0.081	B	0.09377	0.004	T	0.44329	-0.9335	9	0.10111	T	0.7	.	1.3099	0.02095	0.1329:0.3315:0.2293:0.3063	.	562	P17035	ZNF28_HUMAN	H	509;562;509;509;509	ENSP00000412143:R509H;ENSP00000397693:R562H;ENSP00000353410:R509H;ENSP00000444965:R509H;ENSP00000375661:R509H	ENSP00000353410:R509H	R	-	2	0	ZNF28	57995225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.084000	0.00082	-2.531000	0.00491	-0.490000	0.04691	CGC		0.413	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53303413	C	T	53303413	3	4	83	1	0	0	0	0	1	0	0	0	17810	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	10744911	53303413	5825570	68	5670											
CACNG8	59283	broad.mit.edu	37	chr19	54466519	54466519	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccatcgccatcagcacTgactactggctctacacgcg	10	8	8	15	3	2	2	1	2	1	0	3	2	2	2	2	1	3	2	2	1	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:54466519T>G	ENST00000270458.2	+	1	226	c.123T>G	c.(121-123)acT>acG	p.T41T		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	41					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCATCAGCACTGACTACTGGC	0.711																																						uc002qcs.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(121-123)acT>acG		Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.							41	39	40					19																	54466519		2203	4300	6503	SO:0001819	synonymous_variant	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466519T>G	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.123T>G	19.37:g.54466519T>G							p.T41T	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	0	230	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		41					Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	c.123T>G	CCDS33104.1																																																																																				0.711	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			G	54466519	T	G	54466519	2	3	83	1	0	0	0	0	0	0	0	1	2563	1567	55	5		5	CACNG8	19	54466519	Silent	SNP	T	TCGA-06-2567-01A-01D-1494-08	1163106	54466519	4662464	69	5671											
NLRP4	147945	broad.mit.edu	37	chr19	56370584	56370584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttttccgttcaaaatGtctttaagaaagaggatgaa	13	15	8	5	1	3	3	1	1	2	2	4	4	4	4	1	1	0	2	1	1	5	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:56370584G>A	ENST00000301295.6	+	3	2247	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	NLRP4_ENST00000587891.1_Missense_Mutation_p.V534I|NLRP4_ENST00000346986.5_Missense_Mutation_p.V609I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	609					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V609F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCAAAATGTCTTTAAGAA	0.408																																						uc002qmd.4																			1	Substitution - Missense(1)	p.V609F(2)	ovary(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1825-1827)Gtc>Atc		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							67	63	64					19																	56370584		2203	4299	6502	SO:0001583	missense	147945						ATP binding	g.chr19:56370584G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1825G>A	19.37:g.56370584G>A	ENSP00000301295:p.Val609Ile					NLRP4_uc002qmf.3_Missense_Mutation_p.V534I|NLRP4_uc010etf.3_Missense_Mutation_p.V440I	p.V609I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	2247	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	609					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1825G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	7.130	0.579732	0.13686	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52526	0.66;0.66	3.47	-3.15	0.05233	.	.	.	.	.	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	B;P;B	0.39181	0.144;0.663;0.282	B;B;B	0.33890	0.111;0.172;0.076	T	0.15292	-1.0442	9	0.26408	T	0.33	.	4.5558	0.12136	0.2574:0.3111:0.4315:0.0	.	609;534;609	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	609	ENSP00000301295:V609I;ENSP00000344787:V609I	ENSP00000301295:V609I	V	+	1	0	NLRP4	61062396	0.013000	0.17824	0.001000	0.08648	0.003000	0.03518	0.593000	0.23999	-0.467000	0.06932	0.591000	0.81541	GTC		0.408	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56370584	G	A	56370584	3	1	83	1	0	0	0	0	1	0	0	0	10479	1377	48	3	1831	3	NLRP4	19	56370584	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	1904065	56370584	2758399	70	5672											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122583	33122583	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgctccaagaaaaatgaAattatggttgcaccaggtaa	16	10	8	7	1	0	2	0	1	0	1	2	2	1	2	2	2	1	4	2	2	6	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr20:33122583A>T	ENST00000357156.2	+	3	281	c.231A>T	c.(229-231)gaA>gaT	p.E77D	DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.E129D|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.E77D	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	77					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						AGAAAAATGAAATTATGGTTG	0.532																																						uc002xal.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(229-231)gaA>gaT		Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.							87	73	77					20																	33122583		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122583A>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.231A>T	20.37:g.33122583A>T	ENSP00000349679:p.Glu77Asp					DYNLRB1_uc010zuk.2_Missense_Mutation_p.E77D	p.E77D	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN			2	291	+			77					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.231A>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905476	0.72868	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.36699	1.24;1.24;1.24	5.06	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	.	.	.	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	T	0.55927	-0.8063	9	0.59425	D	0.04	-16.5224	9.5018	0.39022	0.7578:0.0:0.2422:0.0	.	77;77	B4DFR2;Q9NP97	.;DLRB1_HUMAN	D	77;77;129	ENSP00000349679:E77D;ENSP00000409090:E77D;ENSP00000363979:E129D	ENSP00000349679:E77D	E	+	3	2	DYNLRB1	32586244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.526000	0.35964	0.408000	0.25621	-0.274000	0.10170	GAA		0.532	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		T	33122583	A	T	33122583	3	4	83	1	0	0	0	0	1	0	0	0	4850	11	1	5	241	5	DYNLRB1	20	33122583	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08		33122583	29902937	71	5673											
C21orf91	54149	broad.mit.edu	37	chr21	19169012	19169012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccacaatacactgttaCgacataaagtggcacctgaa	15	7	9	10	1	0	1	0	1	0	0	0	3	0	1	2	2	2	2	2	2	6	3	rs200192230		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:19169012C>T	ENST00000400558.3	-	3	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000493464.1_5'Flank|C21orf91_ENST00000400559.3_Missense_Mutation_p.R184H|C21orf91_ENST00000284881.4_Missense_Mutation_p.R184H	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TACACTGTTACGACATAAAGT	0.433																																						uc002yko.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(550-552)cGt>cAt		Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3844		0,0,1922	150	143	145		551,551,551	-1.4	0.1	21		145	1,8227		0,1,4113	yes	missense,missense,missense	C21orf91	NM_001100420.1,NM_001100421.1,NM_017447.3	29,29,29	0,1,6035	TT,TC,CC		0.0122,0.0,0.0083	benign,benign,benign	184/298,184/222,184/297	19169012	1,12071	1922	4114	6036	SO:0001583	missense	54149							g.chr21:19169012C>T	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.551G>A	21.37:g.19169012C>T	ENSP00000383403:p.Arg184His					C21orf91_uc002ykq.4_Missense_Mutation_p.R184H|C21orf91_uc002ykp.4_Missense_Mutation_p.R184H	p.R184H	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	642	-			184						Missense_Mutation	SNP	ENST00000400558.3	37	c.551G>A	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568618	0.03910	0.0	1.22E-4	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.43	-1.42	0.08913	.	0.577368	0.18749	N	0.132226	T	0.02455	0.0075	N	0.00436	-1.5	0.34123	D	0.664333	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	9	.	.	.	-0.8991	6.6957	0.23197	0.0:0.3841:0.1308:0.4852	.	184;184	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	H	184	ENSP00000284881:R184H;ENSP00000383404:R184H;ENSP00000383403:R184H;ENSP00000385566:R184H	.	R	-	2	0	C21orf91	18090883	0.611000	0.26992	0.113000	0.21522	0.829000	0.46940	0.141000	0.16076	-0.167000	0.10871	-0.385000	0.06624	CGT		0.433	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		T	19169012	C	T	19169012	3	4	83	1	0	0	0	0	1	0	0	0	2134	536	19	1	354	1	C21orf91	21	19169012	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		19169012	28960883	72	5674											
WDR4	10785	broad.mit.edu	37	chr21	44296865	44296865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagtcatagatgaagagGctgtcatcatcactaaagag	14	9	10	8	0	4	4	4	1	0	3	4	4	4	4	0	1	1	2	0	1	4	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:44296865G>A	ENST00000398208.2	-	2	161	c.102C>T	c.(100-102)agC>agT	p.S34S	WDR4_ENST00000330317.2_Silent_p.S34S|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGATGAAGAGGCTGTCATCAT	0.363																																						uc002zci.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(100-102)agC>agT		Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.							91	85	87					21																	44296865		2203	4300	6503	SO:0001819	synonymous_variant	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44296865G>A	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.102C>T	21.37:g.44296865G>A						WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	p.S34S	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	1	175	-			34						Silent	SNP	ENST00000398208.2	37	c.102C>T	CCDS13691.1																																																																																				0.363	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			A	44296865	G	A	44296865	2	1	83	1	0	0	0	0	0	0	0	1	17290	1194	42	3		3	WDR4	21	44296865	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	25127853	44296865	3833030	73	5675											
RFPL3	10738	broad.mit.edu	37	chr22	32756314	32756314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggagcgtccgaagtgGgctcatcacacagaatcggc	10	6	12	13	3	3	1	3	0	0	1	5	3	4	2	2	3	1	1	2	3	2	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr22:32756314G>A	ENST00000249007.4	+	2	654	c.449G>A	c.(448-450)gGg>gAg	p.G150E	RFPL3_ENST00000382088.3_Missense_Mutation_p.G121E|RFPL3_ENST00000397468.1_Missense_Mutation_p.G121E|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	150	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTCCGAAGTGGGCTCATCACA	0.542																																						uc003amj.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(448-450)gGg>gAg		Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.							150	133	139					22																	32756314		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756314G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.449G>A	22.37:g.32756314G>A	ENSP00000249007:p.Gly150Glu					RFPL3_uc010gwn.3_Missense_Mutation_p.G121E|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	p.G150E	NM_001098535	NP_006595	O75679	RFPL3_HUMAN			1	654	+			150			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.449G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631920	0.29068	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.11063	2.81;2.81;2.81	0.664	-0.628	0.11537	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21761	0.0524	M	0.61703	1.905	0.09310	N	0.999999	D	0.56035	0.974	D	0.64687	0.928	T	0.10200	-1.0640	9	0.54805	T	0.06	.	4.8667	0.13611	0.272:0.0:0.728:0.0	.	150	O75679	RFPL3_HUMAN	E	121;150;121	ENSP00000380609:G121E;ENSP00000249007:G150E;ENSP00000371520:G121E	ENSP00000249007:G150E	G	+	2	0	RFPL3	31086314	0.452000	0.25713	0.001000	0.08648	0.023000	0.10783	2.463000	0.45058	-0.224000	0.09928	0.194000	0.17425	GGG		0.542	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		A	32756314	G	A	32756314	3	1	83	1	0	0	0	0	1	0	0	0	13255	1232	43	3	455	3	RFPL3	22	32756314	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		32756314	18548252	74	5676											
WWC3	55841	broad.mit.edu	37	chrX	10096666	10096666	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagagggaactggccgagGagcgggccaagctggagtac	10	4	19	8	2	0	1	0	0	0	1	0	6	0	4	2	6	4	2	2	6	3	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:10096666G>T	ENST00000380861.4	+	17	2741	c.2350G>T	c.(2350-2352)Gag>Tag	p.E784*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.E784*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	784					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACTGGCCGAGGAGCGGGCCAA	0.662																																						uc004csx.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2350-2352)Gag>Tag		Homo sapiens WWC family member 3 (WWC3), mRNA.							64	50	55					X																	10096666		2201	4300	6501	SO:0001587	stop_gained	55841							g.chrX:10096666G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2350G>T	X.37:g.10096666G>T	ENSP00000370242:p.Glu784*					WWC3_uc010nds.3_Nonsense_Mutation_p.E448*|WWC3_uc010ndt.3_Non-coding_Transcript	p.E784*	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			16	2548	+			784					A8KA96|Q659C1|Q9BTQ1	Nonsense_Mutation	SNP	ENST00000380861.4	37	c.2350G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	g	41	8.584013	0.98872	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	.	.	.	4.95	4.95	0.65309	.	0.462763	0.24398	N	0.038879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.6075	17.6585	0.88184	0.0:0.0:1.0:0.0	.	.	.	.	X	784;784;279	.	.	E	+	1	0	WWC3	10056666	1.000000	0.71417	0.986000	0.45419	0.254000	0.26022	5.555000	0.67301	2.187000	0.69744	0.525000	0.51046	GAG		0.662	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10096666	G	T	10096666	4	4	83	1	0	0	0	0	0	1	0	0	17410	1175	41	5	2412	5	WWC3	23	10096666	Nonsense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		10096666	145173894	75	5677											
MSL3	10943	broad.mit.edu	37	chrX	11780954	11780957	+	Splice_Site	DEL	AGTT	AGTT	-																															atgtctatgtttttgttaacAgttagtgaaacttccatgcc																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:11780954_11780957delAGTT	ENST00000312196.4	+	7	693_695	c.588_590delAGTT	c.(586-591)cgagtt>cgt	p.V198fs	MSL3_ENST00000380693.3_Splice_Site_p.V32fs|MSL3_ENST00000361672.2_Splice_Site_p.V49fs|MSL3_ENST00000337339.2_Splice_Site_p.V198fs|MSL3_ENST00000398527.2_Splice_Site_p.V186fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	198	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTGTTAACAGTTAGTGAAACTT	0.368																																						uc004cuw.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.e7-1		Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11780954_11780957delAGTT	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.589-1AGTT>-	X.37:g.11780954_11780957delAGTT						MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc011mig.2_Splice_Site_p.L48_splice|MSL3_uc011mih.2_Splice_Site_p.L185_splice|MSL3_uc004cuy.3_Splice_Site_p.L31_splice|MSL3_uc011mii.2_Splice_Site_p.L31_splice	p.L197_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN			7	694	+			197					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Splice_Site	DEL	ENST00000312196.4	37	c.589_splice	CCDS14147.1																																																																																				0.368	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	Frame_Shift_Del	-	11780957	AGTT	-	11780954	8	5	83	1	0	1	0	1	0	0	1	0	9879	202	7	0	613	0	MSL3	23	11780954	Splice_Site	DEL	AGTT	TCGA-06-2567-01A-01D-1494-08	1684288	11780954	143489606	76	5678											
GLIS1	148979	broad.mit.edu	37	chr1	54060499	54060499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgaggcttcggcccgggAggtccaggtctgggtgcagg	4	7	20	10	3	1	0	0	0	1	0	3	2	2	1	2	8	1	2	2	8	0	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:54060499A>G	ENST00000312233.2	-	3	643	c.77T>C	c.(76-78)cTc>cCc	p.L26P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TCGGCCCGGGAGGTCCAGGTC	0.706																																						uc001cvr.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(76-78)cTc>cCc		Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.							13	19	17					1																	54060499		2161	4211	6372	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060499A>G	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.77T>C	1.37:g.54060499A>G	ENSP00000309653:p.Leu26Pro						p.L26P	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			2	644	-			26						Missense_Mutation	SNP	ENST00000312233.2	37	c.77T>C	CCDS582.1	.	.	.	.	.	.	.	.	.	.	A	8.439	0.850333	0.17034	.	.	ENSG00000174332	ENST00000312233	T	0.14516	2.5	4.53	4.53	0.55603	.	0.134805	0.33534	N	0.004818	T	0.15132	0.0365	L	0.27053	0.805	0.50313	D	0.999863	P	0.44090	0.826	P	0.47470	0.548	T	0.02156	-1.1204	10	0.62326	D	0.03	.	13.1467	0.59465	1.0:0.0:0.0:0.0	.	26	Q8NBF1	GLIS1_HUMAN	P	26	ENSP00000309653:L26P	ENSP00000309653:L26P	L	-	2	0	GLIS1	53833087	0.999000	0.42202	0.822000	0.32727	0.337000	0.28794	3.882000	0.56160	1.988000	0.58038	0.460000	0.39030	CTC		0.706	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		G	54060499	A	G	54060499	3	3	84	1	0	0	0	0	1	0	0	0	6445	304	11	4	1817	4	GLIS1	1	54060499	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08		54060499	195190122	1	5679											
TRIM46	80128	broad.mit.edu	37	chr1	155150608	155150608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggctggcccgtctcaGcgcccagatccaggagcacc	7	4	14	16	3	1	1	1	0	1	1	3	3	2	3	4	4	3	2	4	4	0	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:155150608G>A	ENST00000334634.4	+	6	1040	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	TRIM46_ENST00000368385.4_Missense_Mutation_p.S347N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.S221N|TRIM46_ENST00000543729.1_Missense_Mutation_p.S354N|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.S347N|TRIM46_ENST00000368382.1_Missense_Mutation_p.S324N|TRIM46_ENST00000392451.2_Missense_Mutation_p.S347N	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	347						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGTCTCAGCGCCCAGATC	0.622																																						uc001fhs.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1039-1041)aGc>aAc		Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.							29	32	31					1																	155150608		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155150608G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1040G>A	1.37:g.155150608G>A	ENSP00000334657:p.Ser347Asn					TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.S347N|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.S221N|TRIM46_uc001fhu.1_Missense_Mutation_p.S324N|TRIM46_uc009wpg.1_Missense_Mutation_p.S334N|TRIM46_uc001fhw.1_Non-coding_Transcript	p.S347N	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	1123	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		347					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1040G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	6.418	0.445329	0.12164	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.51574	0.76;1.0;1.0;0.7;1.0;1.0;1.0	3.59	3.59	0.41128	.	0.371662	0.25944	N	0.027281	T	0.11580	0.0282	N	0.16478	0.41	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.027;0.016;0.002	B;B;B;B	0.13407	0.001;0.004;0.009;0.003	T	0.10019	-1.0648	10	0.22706	T	0.39	.	7.0334	0.24980	0.1259:0.0:0.8741:0.0	.	347;324;347;347	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	N	354;305;347;221;347;347;324;347	ENSP00000442719:S354N;ENSP00000357369:S347N;ENSP00000440254:S221N;ENSP00000376245:S347N;ENSP00000357367:S347N;ENSP00000357366:S324N;ENSP00000334657:S347N	ENSP00000334657:S347N	S	+	2	0	TRIM46	153417232	0.431000	0.25546	0.994000	0.49952	0.923000	0.55619	3.477000	0.53151	2.011000	0.59026	0.313000	0.20887	AGC		0.622	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		A	155150608	G	A	155150608	3	1	84	1	0	0	0	0	1	0	0	0	16518	971	34	3	1062	3	TRIM46	1	155150608	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	101090109	155150608	94100013	2	5680											
IGSF8	93185	broad.mit.edu	37	chr1	160063842	160063842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgtgtgcttgtcctcgCcaggcagcccagtgccagct	4	11	11	15	1	1	0	0	0	1	0	3	0	2	0	4	1	4	3	4	1	0	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:160063842C>T	ENST00000368086.1	-	3	778	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.A188T			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	188	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGTCCTCGCCAGGCAGCCC	0.677																																						uc001fva.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(562-564)Gcg>Acg		Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.							66	63	64					1																	160063842		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063842C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.562G>A	1.37:g.160063842C>T	ENSP00000357065:p.Ala188Thr					IGSF8_uc001fuz.3_Missense_Mutation_p.A188T|IGSF8_uc009wtf.3_Missense_Mutation_p.A188T	p.A188T	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	607	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		188			Ig-like C2-type 2.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.562G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339262	0.81911	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.25414	1.8;1.8;1.8	3.88	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.35038	0.0918	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.13072	-1.0523	10	0.54805	T	0.06	-19.8926	15.1322	0.72533	0.0:1.0:0.0:0.0	.	188	Q969P0	IGSF8_HUMAN	T	188	ENSP00000316664:A188T;ENSP00000357065:A188T;ENSP00000397464:A188T	ENSP00000316664:A188T	A	-	1	0	IGSF8	158330466	1.000000	0.71417	0.985000	0.45067	0.824000	0.46624	4.645000	0.61404	2.170000	0.68504	0.591000	0.81541	GCG		0.677	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		T	160063842	C	T	160063842	3	4	84	1	0	0	0	0	1	0	0	0	7604	739	26	3	1295	3	IGSF8	1	160063842	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	4913234	160063842	89186779	3	5681											
OBSCN	84033	broad.mit.edu	37	chr1	228511139	228511139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtgtgcgctggttcaagGatgggaagttgttggaggag	8	10	18	5	1	1	0	1	0	0	0	1	4	1	4	1	5	1	4	1	5	2	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511139G>A	ENST00000422127.1	+	56	15528	c.15484G>A	c.(15484-15486)Gat>Aat	p.D5162N	OBSCN_ENST00000570156.2_Missense_Mutation_p.D6119N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2796N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D5162N|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2281N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5162	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTTCAAGGATGGGAAGTT	0.537																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15484-15486)Gat>Aat		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							103	104	104					1																	228511139		2160	4266	6426	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511139G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15484G>A	1.37:g.228511139G>A	ENSP00000409493:p.Asp5162Asn					OBSCN_uc001hsn.3_Missense_Mutation_p.D5162N	p.D5162N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15528	+		Prostate(94;0.0405)	5162			Ig-like 49.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15484G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142629	0.94560	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.07	4.16	0.48862	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165223	0.42172	D	0.000760	T	0.37489	0.1005	N	0.20445	0.575	0.42943	D	0.994359	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.967	T	0.14282	-1.0478	10	0.30078	T	0.28	.	13.5425	0.61684	0.075:0.0:0.925:0.0	.	5162;5162	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	5162;5162;2796;2281	ENSP00000284548:D5162N;ENSP00000409493:D5162N;ENSP00000355668:D2796N;ENSP00000355670:D2281N	ENSP00000284548:D5162N	D	+	1	0	OBSCN	226577762	1.000000	0.71417	0.965000	0.40720	0.824000	0.46624	9.587000	0.98229	1.354000	0.45846	0.655000	0.94253	GAT		0.537	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228511139	G	A	228511139	3	1	84	1	0	0	0	0	1	0	0	0	10812	1174	41	3	15702	3	OBSCN	1	228511139	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	68447297	228511139	20739482	4	5682											
OBSCN	84033	broad.mit.edu	37	chr1	228511261	228511261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaccgctgcctggccgaGaacagcatgggtgtctcctc	6	9	12	14	2	2	1	0	0	2	1	4	2	2	1	4	2	4	2	4	2	2	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511261G>A	ENST00000422127.1	+	56	15650	c.15606G>A	c.(15604-15606)gaG>gaA	p.E5202E	OBSCN_ENST00000570156.2_Silent_p.E6159E|OBSCN_ENST00000366707.4_Silent_p.E2836E|OBSCN_ENST00000284548.11_Silent_p.E5202E|OBSCN_ENST00000366709.4_Silent_p.E2321E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5202	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGCCGAGAACAGCATGG	0.577																																						uc009xez.1																			0		p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15604-15606)gaG>gaA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							69	72	71					1																	228511261		2180	4277	6457	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511261G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15606G>A	1.37:g.228511261G>A						OBSCN_uc001hsn.3_Silent_p.E5202E	p.E5202E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15650	+		Prostate(94;0.0405)	5202			Ig-like 49.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.15606G>A	CCDS58065.1																																																																																				0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228511261	G	A	228511261	2	1	84	1	0	0	0	0	0	0	0	1	10812	933	33	3		3	OBSCN	1	228511261	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	122	228511261	20739360	5	5683											
HOXD8	3234	broad.mit.edu	37	chr2	176996300	176996301	+	Frame_Shift_Del	DEL	AA	AA	-																															ggaaacgaaaaaggaagcccAagagctggaggaagacagag																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr2:176996300_176996301delAA	ENST00000313173.4	+	2	1460_1461	c.833_834delAA	c.(832-834)caafs	p.Q278fs	HOXD8_ENST00000548663.1_Frame_Shift_Del_p.Q174fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.Q277fs|HOXD8_ENST00000429017.1_Frame_Shift_Del_p.Q94fs|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.Q277fs|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	278					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGAAGCCCAAGAGCTGGAGG	0.426																																						uc002uko.3																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(832-834)caafs		Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996300_176996301delAA		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.833_834delAA	2.37:g.176996300_176996301delAA	ENSP00000315949:p.Gln278fs					AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Frame_Shift_Del_p.Q94fs|HOXD8_uc002ukp.3_Frame_Shift_Del_p.Q277fs	p.Q278fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	1460_1461	+			278					F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Del	DEL	ENST00000313173.4	37	c.833_834delAA	CCDS2268.1																																																																																				0.426	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			-	176996301	AA	-	176996300	7	5	84	1	0	1	0	1	0	0	0	0	7325	130	5	0	839	0	HOXD8	2	176996300	Frame_Shift_Del	DEL	AA	TCGA-06-2569-01A-01D-1494-08		176996300	66203073	6	5684											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766626	111766626	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgcagagcatctgtcTctccactacccgctggagat	8	12	8	13	1	3	2	0	0	3	2	5	3	4	2	2	1	3	3	2	1	2	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:111766626T>G	ENST00000452346.2	+	7	774	c.771T>G	c.(769-771)tcT>tcG	p.S257S	TMPRSS7_ENST00000419127.1_Silent_p.S131S			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	257	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCATCTGTCTCTCCACTACC	0.448																																						uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(391-393)tcT>tcG		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							62	60	61					3																	111766626		1919	4135	6054	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111766626T>G	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.771T>G	3.37:g.111766626T>G						TMPRSS7_uc011bhr.1_5'UTR	p.S131S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			4	563	+			257					C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.393T>G																																																																																					0.448	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		G	111766626	T	G	111766626	2	3	84	1	0	0	0	0	0	0	0	1	16249	1538	54	5		5	TMPRSS7	3	111766626	Silent	SNP	T	TCGA-06-2569-01A-01D-1494-08		111766626	86255804	7	5685											
MUC20	200958	broad.mit.edu	37	chr3	195456549	195456549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcctcctcctgcggcTgagtgtggcttccccggaag	4	11	13	13	2	0	1	0	1	0	0	4	2	4	2	5	4	1	3	5	4	1	2	rs201857816	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:195456549T>C	ENST00000447234.2	+	3	2126	c.2000T>C	c.(1999-2001)cTg>cCg	p.L667P	MUC20_ENST00000445522.2_Missense_Mutation_p.L632P|MUC20_ENST00000436408.1_Missense_Mutation_p.L667P|MUC20_ENST00000320736.6_Missense_Mutation_p.L496P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	667	Interaction with MET.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCCTGCGGCTGAGTGTGGCT	0.577													.|||	18	0.00359425	0.0136	0	5008	,	,		29066	0		0	False		,,,				2504	0					uc010hzo.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1486-1488)cTg>cCg		Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.			PRO/LEU,PRO/LEU	22,3968		0,22,1973	50	48	49		1382,1487	4.6	1	3		49	0,8354		0,0,4177	yes	missense,missense	MUC20	NM_001098516.1,NM_152673.2	98,98	0,22,6150	CC,CT,TT		0.0,0.5514,0.1782	probably-damaging,probably-damaging	461/504,496/539	195456549	22,12322	1995	4177	6172	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195456549T>C	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.2000T>C	3.37:g.195456549T>C	ENSP00000414350:p.Leu667Pro					MUC20_uc010hzp.3_Missense_Mutation_p.L461P	p.L496P	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1613	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	667	V -> I (in Ref. 5; AAH29267).	Missing.	Involved in oligomerization.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1487T>C		.	.	.	.	.	.	.	.	.	.	T	14.72	2.618589	0.46736	0.005514	0.0	ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.44083	1.44;1.76;1.47;0.93	4.63	4.63	0.57726	.	0.000000	0.32258	N	0.006354	T	0.44808	0.1311	L	0.39245	1.2	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.51513	-0.8696	10	0.66056	D	0.02	-6.0446	10.3989	0.44218	0.0:0.0:0.0:1.0	.	496	E9PH32	.	P	478;667;496;667;632	ENSP00000414350:L667P;ENSP00000325431:L496P;ENSP00000396774:L667P;ENSP00000405629:L632P	ENSP00000325431:L496P	L	+	2	0	MUC20	196942220	0.750000	0.28316	0.986000	0.45419	0.443000	0.32047	3.128000	0.50492	1.943000	0.56356	0.456000	0.33151	CTG		0.577	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		C	195456549	T	C	195456549	3	2	84	1	0	0	0	0	1	0	0	0	9976	1580	55	4	1501	4	MUC20	3	195456549	Missense_Mutation	SNP	T	TCGA-06-2569-01A-01D-1494-08	83689923	195456549	2565881	8	5686											
ATP5I	521	broad.mit.edu	37	chr4	666298	666298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcagggtcactcactttaaTatgctgtcatcttgggccgg	7	12	11	11	2	4	0	3	0	1	0	4	0	4	0	1	3	1	2	1	3	2	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:666298T>C	ENST00000304312.4	-	4	291	c.201A>G	c.(199-201)atA>atG	p.I67M	MYL5_ENST00000506838.1_5'Flank|MYL5_ENST00000511290.1_5'Flank|MYL5_ENST00000505477.1_5'Flank|ATP5I_ENST00000506525.1_5'UTR	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E	67					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2						CTCACTTTAATATGCTGTCAT	0.458																																						uc003gas.3																			0				lung(1)|skin(1)	2						c.(199-201)atA>atG		Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E (ATP5I), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							106	101	103					4																	666298		2203	4300	6503	SO:0001583	missense	521				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr4:666298T>C	AB028624	CCDS3337.1	4p16.3	2012-10-12	2010-06-11		ENSG00000169020	ENSG00000169020		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	846	protein-coding gene	gene with protein product		601519	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E"			8702853	Standard	NM_007100		Approved		uc003gas.3	P56385	OTTHUMG00000086929	ENST00000304312.4:c.201A>G	4.37:g.666298T>C	ENSP00000306003:p.Ile67Met					ATP5I_uc003gar.3_Non-coding_Transcript|ATP5I_uc021xkb.1_Non-coding_Transcript|MYL5_uc003gat.3_5'Flank|MYL5_uc003gau.3_5'Flank	p.I67M	NM_007100	NP_009031	P56385	ATP5I_HUMAN			3	292	-			67					Q0D2L9	Missense_Mutation	SNP	ENST00000304312.4	37	c.201A>G	CCDS3337.1	.	.	.	.	.	.	.	.	.	.	T	9.747	1.166432	0.21621	.	.	ENSG00000169020	ENST00000304312	.	.	.	4.39	-8.78	0.00824	.	0.063272	0.64402	U	0.000015	T	0.55721	0.1938	.	.	.	0.23602	N	0.997319	D	0.63880	0.993	D	0.64776	0.929	T	0.66408	-0.5931	8	0.87932	D	0	-9.0664	12.2411	0.54541	0.1032:0.0:0.7091:0.1877	.	67	P56385	ATP5I_HUMAN	M	67	.	ENSP00000306003:I67M	I	-	3	3	ATP5I	656298	0.023000	0.18921	0.001000	0.08648	0.038000	0.13279	-0.633000	0.05483	-2.326000	0.00637	-0.438000	0.05819	ATA		0.458	ATP5I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195856.2			C	666298	T	C	666298	3	2	84	1	0	0	0	0	1	0	0	0	1157	1396	49	4	12	4	ATP5I	4	666298	Missense_Mutation	SNP	T	TCGA-06-2569-01A-01D-1494-08		666298	190487978	9	5687											
ATP10D	57205	broad.mit.edu	37	chr4	47538903	47538903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctcactgagaataagatGgtttttcgaagatgtagtgt	12	13	10	6	1	1	3	1	1	0	3	2	5	1	3	1	1	0	2	1	1	4	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:47538903G>T	ENST00000273859.3	+	9	1613	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	ATP10D_ENST00000504445.1_Missense_Mutation_p.M433I	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	448					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAATAAGATGGTTTTTCGAA	0.433																																						uc003gxk.1																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1342-1344)atG>atT		Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.							67	64	65					4																	47538903		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538903G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1344G>T	4.37:g.47538903G>T	ENSP00000273859:p.Met448Ile					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.M433I	p.M448I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			8	1508	+			448					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1344G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891594	0.91889	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.67523	-0.27;-0.27	5.38	5.38	0.77491	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.84846	2.72	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86618	0.1877	10	0.87932	D	0	-27.6047	18.1203	0.89569	0.0:0.0:1.0:0.0	.	448;433	Q9P241;Q6PEW3	AT10D_HUMAN;.	I	448;433	ENSP00000273859:M448I;ENSP00000420909:M433I	ENSP00000273859:M448I	M	+	3	0	ATP10D	47233660	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.535000	0.85469	0.650000	0.86243	ATG		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47538903	G	T	47538903	3	4	84	1	0	0	0	0	1	0	0	0	1118	1348	47	5	1374	5	ATP10D	4	47538903	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	46872605	47538903	143615373	10	5688											
CCDC99	54908	broad.mit.edu	37	chr5	169031191	169031191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaatctactccagagAcccagtgccctcaacagtaa	13	9	5	14	0	3	1	1	0	2	1	4	2	4	1	3	0	3	1	3	0	5	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr5:169031191A>G	ENST00000265295.4	+	12	2077	c.1798A>G	c.(1798-1800)Acc>Gcc	p.T600A		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TACTCCAGAGACCCAGTGCCC	0.358																																						uc003mae.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25						c.(1798-1800)Acc>Gcc		Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.							78	83	81					5																	169031191		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169031191A>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1798A>G	5.37:g.169031191A>G	ENSP00000265295:p.Thr600Ala					CCDC99_uc011deq.2_Missense_Mutation_p.T417A|CCDC99_uc010jjk.3_Missense_Mutation_p.T326A	p.T600A	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2077	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	600						Missense_Mutation	SNP	ENST00000265295.4	37	c.1798A>G	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614625	0.46631	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.39787	1.06	5.9	3.52	0.40303	.	0.070729	0.64402	D	0.000018	T	0.53834	0.1821	M	0.63843	1.955	0.37325	D	0.909705	D;P	0.65815	0.995;0.513	P;B	0.61800	0.894;0.147	T	0.55528	-0.8127	10	0.33940	T	0.23	-1.2523	10.1923	0.43035	0.8663:0.0:0.1337:0.0	.	522;600	B4E393;Q96EA4	.;SPDLY_HUMAN	A	600;501	ENSP00000265295:T600A	ENSP00000265295:T600A	T	+	1	0	CCDC99	168963769	1.000000	0.71417	0.891000	0.34965	0.976000	0.68499	4.135000	0.57997	0.490000	0.27771	0.528000	0.53228	ACC		0.358	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		G	169031191	A	G	169031191	3	3	84	1	0	0	0	0	1	0	0	0	2876	275	10	4	1840	4	CCDC99	5	169031191	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08		169031191	11884069	11	5689											
COL19A1	1310	broad.mit.edu	37	chr6	70916651	70916651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacctggaattgggctGccagggagtccaggtcttcc	7	9	15	10	0	1	1	0	1	1	0	3	3	3	3	4	5	2	1	4	5	2	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr6:70916651G>A	ENST00000322773.4	+	50	3372	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L	COL19A1_ENST00000393344.1_Silent_p.L712L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1090	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATTGGGCTGCCAGGGAGTC	0.458																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(3268-3270)ctG>ctA		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							85	80	82					6																	70916651		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70916651G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3270G>A	6.37:g.70916651G>A							p.L1090L	NM_001858	NP_001849	Q14993	COJA1_HUMAN			49	3387	+			1090			Triple-helical region 6 (COL6).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.3270G>A	CCDS4970.1																																																																																				0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			A	70916651	G	A	70916651	2	1	84	1	0	0	0	0	0	0	0	1	3676	1306	46	3		3	COL19A1	6	70916651	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		70916651	100198416	12	5690											
SDK1	221935	broad.mit.edu	37	chr7	4153059	4153059	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccagtgagaccagcctgcgGcttcgctgggtggtgagtgg	5	8	18	10	2	0	2	0	2	0	1	1	3	0	2	3	4	2	2	3	4	0	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:4153059G>T	ENST00000404826.2	+	24	3712	c.3573G>T	c.(3571-3573)cgG>cgT	p.R1191R	SDK1_ENST00000389531.3_Silent_p.R1191R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1191	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGCGGCTTCGCTGGG	0.637																																						uc003smx.3																			0		p.R1191W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3571-3573)cgG>cgT		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							77	82	81					7																	4153059		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4153059G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3573G>T	7.37:g.4153059G>T						SDK1_uc010kso.3_Silent_p.R467R	p.R1191R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	23	3712	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1191			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3573G>T	CCDS34590.1																																																																																				0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4153059	G	T	4153059	2	4	84	1	0	0	0	0	0	0	0	1	13968	1190	42	5		5	SDK1	7	4153059	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		4153059	154985604	13	5691											
LOC402644	0	broad.mit.edu	37	chr7	28319007	28319007	+	IGR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaacagtttgtgttgggTccagaatttgccatggacaa	11	11	12	7	1	0	1	0	0	0	1	1	3	1	3	2	3	2	2	2	3	3	3	rs177483	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:28319007T>A								JAZF1-AS1 (35471 upstream) : CREB5 (19932 downstream)																							TTGTGTTGGGTCCAGAATTTG	0.463													T|||	1911	0.381589	0.1611	0.3775	5008	,	,		22160	0.7024		0.3072	False		,,,				2504	0.4284																								0															T		266,1118		25,216,451	39	37	38			-1.2	0.1	7	dbSNP_79	38	880,2302		120,640,831	no	intergenic				145,856,1282	AA,AT,TT		27.6556,19.2197,25.0986			28319007	1146,3420	692	1591	2283	SO:0001628	intergenic_variant	402644							g.chr7:28319007T>A																													7.37:g.28319007T>A						JAZF1-AS1 (38011 upstream) : CREB5 (19933 downstream)																			Silent	SNP		37																																																																																					0	0.463									A	28319007	T	A	28319007	1	1	84	0	1	0	0	0	0	0	0	0	8878	1654	58	5		5	LOC402644	7	28319007	IGR	SNP	T	TCGA-06-2569-01A-01D-1494-08	24165948	28319007	130819656	14	5692											
KBTBD2	25948	broad.mit.edu	37	chr7	32909138	32909138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcagatatatgctgcCgcagagaccaccggtcaagt	11	8	10	12	3	2	2	2	0	0	2	2	3	2	2	3	1	2	3	3	1	3	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:32909138C>T	ENST00000304056.4	-	4	2390	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	564										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TATATGCTGCCGCAGAGACCA	0.463																																						uc003tdb.2																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1690-1692)cGg>cAg		Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.							143	132	136					7																	32909138		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909138C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1691G>A	7.37:g.32909138C>T	ENSP00000302586:p.Arg564Gln					AVL9_uc011kai.2_Intron	p.R564Q	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		3	2350	-			564					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1691G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078084	0.76528	.	.	ENSG00000170852	ENST00000304056	T	0.66280	-0.2	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	N	0.24115	0.695	0.52501	D	0.999959	D	0.63880	0.993	B	0.44108	0.441	T	0.58352	-0.7651	10	0.46703	T	0.11	.	19.1951	0.93684	0.0:1.0:0.0:0.0	.	564	Q8IY47	KBTB2_HUMAN	Q	564	ENSP00000302586:R564Q	ENSP00000302586:R564Q	R	-	2	0	KBTBD2	32875663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.552000	0.86080	0.591000	0.81541	CGG		0.463	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		T	32909138	C	T	32909138	3	4	84	1	0	0	0	0	1	0	0	0	7993	652	23	2	184	2	KBTBD2	7	32909138	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	4590131	32909138	126229525	15	5693											
ELN	2006	broad.mit.edu	37	chr7	73474491	73474491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagcaaaatccgctgccaAggtggctgccaaagcccagc	11	5	11	14	1	0	0	0	0	0	0	1	0	1	0	4	2	6	4	4	2	4	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:73474491A>G	ENST00000252034.7	+	24	1997	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R	ELN_ENST00000320492.7_Missense_Mutation_p.K452R|ELN_ENST00000358929.4_Missense_Mutation_p.K568R|ELN_ENST00000380576.5_Missense_Mutation_p.K514R|ELN_ENST00000380584.4_Intron|ELN_ENST00000458204.1_Missense_Mutation_p.K523R|ELN_ENST00000357036.5_Missense_Mutation_p.K538R|ELN_ENST00000380553.4_Missense_Mutation_p.K397R|ELN_ENST00000445912.1_Missense_Mutation_p.K533R|ELN_ENST00000380575.4_Missense_Mutation_p.K504R|ELN_ENST00000380562.4_Missense_Mutation_p.K539R|ELN_ENST00000429192.1_Missense_Mutation_p.K519R|ELN_ENST00000320399.6_Missense_Mutation_p.K533R|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.K509R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCCGCTGCCAAGGTGGCTGCC	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															uc003tzw.3				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0		p.Q539Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1615-1617)aAg>aGg		Homo sapiens elastin (ELN), transcript variant 1, mRNA.	Rofecoxib(DB00533)						80	87	85					7																	73474491		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474491A>G		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1598A>G	7.37:g.73474491A>G	ENSP00000252034:p.Lys533Arg					ELN_uc003tzn.3_Missense_Mutation_p.K533R|ELN_uc003tzy.3_Missense_Mutation_p.K509R|ELN_uc003tzz.3_Missense_Mutation_p.K452R|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Missense_Mutation_p.K444R|ELN_uc003tzq.3_Missense_Mutation_p.K397R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.K514R|ELN_uc003tzt.3_Missense_Mutation_p.K538R|ELN_uc003tzu.3_Missense_Mutation_p.K519R|ELN_uc003tzv.3_Missense_Mutation_p.K504R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.K523R|ELN_uc011kff.2_Missense_Mutation_p.K533R	p.K539R	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1707	+		Lung NSC(55;0.159)	562			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1616A>G	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748215	0.49257	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	1.27;1.25;1.3;1.3;1.24;1.23;1.34;1.25;1.23;1.26;1.27;1.24;1.27	4.47	4.47	0.54385	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	1	B;B;B;B;B;B;B;B;B;P;B;B	0.36909	0.206;0.206;0.206;0.206;0.206;0.206;0.206;0.206;0.206;0.573;0.206;0.206	B;B;B;B;B;B;B;B;B;B;B;B	0.36666	0.124;0.124;0.124;0.124;0.124;0.124;0.124;0.124;0.124;0.23;0.124;0.124	T	0.08006	-1.0743	8	0.20046	T	0.44	0.1796	10.4635	0.44594	1.0:0.0:0.0:0.0	.	533;452;509;523;539;504;519;538;514;397;444;533	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	R	533;533;568;452;509;539;504;523;538;519;472;397;514;533	ENSP00000389857:K533R;ENSP00000252034:K533R;ENSP00000351807:K568R;ENSP00000315607:K452R;ENSP00000392575:K509R;ENSP00000369936:K539R;ENSP00000369949:K504R;ENSP00000403162:K523R;ENSP00000349540:K538R;ENSP00000391129:K519R;ENSP00000369926:K397R;ENSP00000369950:K514R;ENSP00000313565:K533R	ENSP00000252034:K533R	K	+	2	0	ELN	73112427	0.021000	0.18746	0.008000	0.14137	0.297000	0.27493	2.955000	0.49121	2.030000	0.59900	0.524000	0.50904	AAG		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		G	73474491	A	G	73474491	3	3	84	1	0	0	0	0	1	0	0	0	5071	72	3	4	1707	4	ELN	7	73474491	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08	40565353	73474491	85664172	16	5694											
TRPV5	56302	broad.mit.edu	37	chr7	142625890	142625890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtccatcgtaggacaGcagcaggttgtacatctggc	9	9	11	12	1	1	0	0	0	1	0	3	1	2	1	2	3	3	5	2	3	2	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:142625890G>T	ENST00000265310.1	-	6	1006	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TRPV5_ENST00000442623.1_Missense_Mutation_p.L220M	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	220					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCGTAGGACAGCAGCAGGTTG	0.572																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(658-660)Ctg>Atg		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							211	199	203					7																	142625890		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625890G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.658C>A	7.37:g.142625890G>T	ENSP00000265310:p.Leu220Met					TRPV5_uc003wbz.3_Missense_Mutation_p.L220M	p.L220M	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			5	922	-	Melanoma(164;0.059)		220					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.658C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348121	0.61183	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.61040	0.14;0.14;0.14	4.01	4.01	0.46588	Ankyrin repeat-containing domain (3);	0.193487	0.44688	D	0.000430	T	0.64193	0.2576	M	0.64676	1.99	0.49798	D	0.999828	P;P	0.41366	0.707;0.747	P;P	0.51297	0.518;0.665	T	0.66221	-0.5978	10	0.52906	T	0.07	-3.167	10.6834	0.45828	0.0:0.0:0.8092:0.1908	.	220;220	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	M	220;214;220	ENSP00000265310:L220M;ENSP00000406361:L214M;ENSP00000406572:L220M	ENSP00000265310:L220M	L	-	1	2	TRPV5	142336012	0.985000	0.35326	1.000000	0.80357	0.966000	0.64601	1.481000	0.35476	2.076000	0.62316	0.462000	0.41574	CTG		0.572	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		T	142625890	G	T	142625890	3	4	84	1	0	0	0	0	1	0	0	0	16596	962	34	5	1571	5	TRPV5	7	142625890	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	69151399	142625890	16512773	17	5695											
WNK2	65268	broad.mit.edu	37	chr9	96030181	96030181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccacacctcagcacctgcGgcctgggcaccggggaggtg	6	4	15	16	3	1	0	1	0	0	0	1	1	1	1	5	5	2	2	5	5	0	0	rs558079515		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:96030181G>T	ENST00000297954.4	+	16	3850	c.3850G>T	c.(3850-3852)Ggc>Tgc	p.G1284C	WNK2_ENST00000427277.2_Missense_Mutation_p.G896C|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.G1284C|WNK2_ENST00000349097.3_Missense_Mutation_p.G896C	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1284					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCACCTGCGGCCTGGGCAC	0.657																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(3850-3852)Ggc>Tgc		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							29	29	29					9																	96030181		2202	4297	6499	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96030181G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3850G>T	9.37:g.96030181G>T	ENSP00000297954:p.Gly1284Cys					WNK2_uc011lud.1_Missense_Mutation_p.G1284C|WNK2_uc004atj.3_Missense_Mutation_p.G1284C|WNK2_uc004atk.3_Missense_Mutation_p.G921C	p.G1284C	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			15	3850	+			1284					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3850G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.86|10.86	1.470163|1.470163	0.26423|0.26423	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.38077|.	1.16;1.16;1.16;1.16|.	5.27|5.27	-0.282|-0.282	0.12878|0.12878	.|.	0.554792|.	0.18615|.	N|.	0.136042|.	T|T	0.48714|0.48714	0.1515|0.1515	L|L	0.59436|0.59436	1.845|1.845	0.20764|0.20764	N|N	0.999858|0.999858	D;D;D;D|.	0.89917|.	1.0;0.997;0.999;1.0|.	D;P;P;D|.	0.79108|.	0.992;0.758;0.878;0.964|.	T|T	0.44772|0.44772	-0.9306|-0.9306	10|5	0.41790|.	T|.	0.15|.	.|.	10.5521|10.5521	0.45095|0.45095	0.5365:0.0:0.4635:0.0|0.5365:0.0:0.4635:0.0	.|.	1284;887;1284;1284|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	C|L	1284;1284;896;896|887	ENSP00000297954:G1284C;ENSP00000378860:G1284C;ENSP00000297876:G896C;ENSP00000411181:G896C|.	ENSP00000297954:G1284C|.	G|R	+|+	1|2	0|0	WNK2|WNK2	95070002|95070002	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.168000|0.168000	0.22595|0.22595	-0.402000|-0.402000	0.07223|0.07223	-0.271000|-0.271000	0.09272|0.09272	-0.133000|-0.133000	0.14855|0.14855	GGC|CGG		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96030181	G	T	96030181	3	4	84	1	0	0	0	0	1	0	0	0	17375	1116	39	5	3912	5	WNK2	9	96030181	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		96030181	45183250	18	5696											
ANAPC2	29882	broad.mit.edu	37	chr9	140074735	140074735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccagaactcactggaCaggatgacagcgtagacccc	11	4	13	13	2	1	3	1	1	0	2	1	5	1	5	3	4	2	1	3	4	2	1	rs200796659		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:140074735C>A	ENST00000323927.2	-	10	1792	c.1788G>T	c.(1786-1788)ctG>ctT	p.L596L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACTCACTGGACAGGATGACAG	0.607																																						uc004clr.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1786-1788)ctG>ctT		Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.							89	81	83					9																	140074735		2203	4300	6503	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074735C>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1788G>T	9.37:g.140074735C>A						ANAPC2_uc004clq.1_Silent_p.L452L	p.L596L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	9	1861	-	all_cancers(76;0.0926)		596					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1788G>T	CCDS7033.1																																																																																				0.607	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		A	140074735	C	A	140074735	2	1	84	1	0	0	0	0	0	0	0	1	603	465	17	5		5	ANAPC2	9	140074735	Silent	SNP	C	TCGA-06-2569-01A-01D-1494-08	44044554	140074735	1138696	19	5697											
LHPP	64077	broad.mit.edu	37	chr10	126172716	126172716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgccgcagactgaagcGttcccggctgaaggtgaggt	7	7	14	13	3	0	4	0	3	0	1	1	4	1	4	4	3	2	3	4	3	2	1	rs202090877		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr10:126172716G>A	ENST00000368842.5	+	2	162	c.134G>A	c.(133-135)cGt>cAt	p.R45H	LHPP_ENST00000368839.1_Missense_Mutation_p.R45H|LHPP_ENST00000392757.4_Missense_Mutation_p.R45H	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	45					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		AGACTGAAGCGTTCCCGGCTG	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		16760	0		0	False		,,,				2504	0				GBM(165;1980 2715 15999 18454)	uc001lhs.2																			0				large_intestine(2)|lung(2)	4						c.(133-135)cGt>cAt		Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.							31	32	32					10																	126172716		2203	4300	6503	SO:0001583	missense	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126172716G>A	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.134G>A	10.37:g.126172716G>A	ENSP00000357835:p.Arg45His					LHPP_uc001lht.2_Missense_Mutation_p.R45H|LHPP_uc009yai.2_Missense_Mutation_p.R45H	p.R45H	NM_022126	NP_071409	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	1	225	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	45					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	c.134G>A	CCDS7640.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.092	-0.186745	0.06340	.	.	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.30448	1.53;1.53;1.53	4.46	-1.72	0.08107	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	1.271540	0.05168	N	0.499118	T	0.26593	0.0650	L	0.46885	1.475	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.0;0.003	T	0.32955	-0.9887	10	0.45353	T	0.12	-6.6556	7.2956	0.26391	0.5147:0.1464:0.3389:0.0	.	45;45;45	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	H	45	ENSP00000376512:R45H;ENSP00000357835:R45H;ENSP00000357832:R45H	ENSP00000357832:R45H	R	+	2	0	LHPP	126162706	0.000000	0.05858	0.120000	0.21714	0.026000	0.11368	-1.707000	0.01893	-0.432000	0.07297	-0.157000	0.13467	CGT		0.617	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		A	126172716	G	A	126172716	3	1	84	1	0	0	0	0	1	0	0	0	8769	1145	40	1	140	1	LHPP	10	126172716	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		126172716	9362031	20	5698											
RAG1	5896	broad.mit.edu	37	chr11	36596029	36596029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgtgcacattaataaagGgggccggccccgccaacatc	10	9	10	12	2	0	0	0	0	0	0	1	0	0	0	4	3	2	1	4	3	4	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:36596029G>T	ENST00000299440.5	+	2	1287	c.1175G>T	c.(1174-1176)gGg>gTg	p.G392V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	392					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATTAATAAAGGGGGCCGGCCC	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1174-1176)gGg>gTg		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							38	44	42					11																	36596029		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596029G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1175G>T	11.37:g.36596029G>T	ENSP00000299440:p.Gly392Val					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.G392V	p.G392V	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	1175	+	all_lung(20;0.226)	all_hematologic(20;0.107)	392					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1175G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735911	0.69189	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74315	-0.83;-0.82	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88543	0.3111	10	0.87932	D	0	.	19.7762	0.96393	0.0:0.0:1.0:0.0	.	392	P15918	RAG1_HUMAN	V	392	ENSP00000434610:G392V;ENSP00000299440:G392V	ENSP00000299440:G392V	G	+	2	0	RAG1	36552605	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	GGG		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		T	36596029	G	T	36596029	3	4	84	1	0	0	0	0	1	0	0	0	13003	1232	43	5	1177	5	RAG1	11	36596029	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		36596029	98410487	21	5699											
MAP6	4135	broad.mit.edu	37	chr11	75316902	75316902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttgctttgctccttgtCgtctggcttggtggtactcg	1	18	11	11	2	2	0	0	0	2	0	5	0	3	0	1	3	3	4	1	3	1	5	rs201737872		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:75316902C>T	ENST00000304771.3	-	3	2017	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MAP6_ENST00000526740.1_Missense_Mutation_p.D94N|MAP6_ENST00000434603.2_Missense_Mutation_p.D423N	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	423					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGCTCCTTGTCGTCTGGCTTG	0.542																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1267-1269)Gac>Aac		Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.							170	144	153					11																	75316902		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316902C>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1267G>A	11.37:g.75316902C>T	ENSP00000307093:p.Asp423Asn					MAP6_uc001owv.3_Missense_Mutation_p.D423N	p.D423N	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			2	1332	-	Ovarian(111;0.11)		423					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1267G>A	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	C	4.001	-0.002612	0.07819	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.51071	0.76;0.72	4.86	3.0	0.34707	.	0.397846	0.21756	N	0.069591	T	0.32526	0.0832	N	0.25380	0.74	0.26265	N	0.978517	B	0.19073	0.033	B	0.12837	0.008	T	0.17440	-1.0369	10	0.33940	T	0.23	-11.2056	10.5416	0.45037	0.0:0.841:0.0:0.159	.	423	Q96JE9	MAP6_HUMAN	N	423;94;94;423	ENSP00000307093:D423N;ENSP00000415108:D423N	ENSP00000307093:D423N	D	-	1	0	MAP6	74994550	0.993000	0.37304	0.678000	0.29963	0.309000	0.27889	3.082000	0.50128	0.778000	0.33520	-0.122000	0.15005	GAC		0.542	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		T	75316902	C	T	75316902	3	4	84	1	0	0	0	0	1	0	0	0	9264	884	31	2	1186	2	MAP6	11	75316902	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	38720873	75316902	59689614	22	5700											
CLEC4C	170482	broad.mit.edu	37	chr12	7882275	7882280	+	In_Frame_Del	DEL	AACGGA	AACGGA	-																															ccagccccattcttctgaagAacggaaatttattatcgcac																								rs373258524		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:7882275_7882280delAACGGA	ENST00000542353.1	-	7	1044_1049	c.554_559delTCCGTT	c.(553-561)ttccgttct>tct	p.FR185del	CLEC4C_ENST00000360345.3_In_Frame_Del_p.FR185del|CLEC4C_ENST00000354629.5_In_Frame_Del_p.FR154del|CLEC4C_ENST00000540085.1_In_Frame_Del_p.FR154del	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	185	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTTCTGAAGAACGGAAATTTATTAT	0.398																																						uc001qtg.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(553-561)ttccgttct>tct		Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882275_7882280delAACGGA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.554_559delTCCGTT	12.37:g.7882275_7882280delAACGGA	ENSP00000440428:p.Phe185_Arg186del					CLEC4C_uc001qth.1_In_Frame_Del_p.FR185del|CLEC4C_uc001qti.1_In_Frame_Del_p.FR154del	p.FR185del	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	5	728_733	-			185			C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	In_Frame_Del	DEL	ENST00000542353.1	37	c.554_559delTCCGTT	CCDS8583.1																																																																																				0.398	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		-	7882280	AACGGA	-	7882275	7	5	84	1	0	1	0	1	0	0	0	0	3513	246	9	0	86	0	CLEC4C	12	7882275	In_Frame_Del	DEL	AACGGA	TCGA-06-2569-01A-01D-1494-08		7882275	125969620	23	5701											
TMBIM4	51643	broad.mit.edu	37	chr12	66547227	66547227	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagacttttctcagaaaGgctaaaagagaaaaaaaatt	19	10	7	5	0	1	3	1	0	1	3	2	4	1	3	0	1	0	2	0	1	8	5	rs184358735	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:66547227G>A	ENST00000358230.3	-	2	219	c.99C>T	c.(97-99)gcC>gcT	p.A33A	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Splice_Site_p.T80T|TMBIM4_ENST00000556010.1_Splice_Site_p.A33A|TMBIM4_ENST00000398033.4_Splice_Site_p.A33A|TMBIM4_ENST00000542724.1_Intron|TMBIM4_ENST00000539652.1_Splice_Site_p.A33A	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	33					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TTCTCAGAAAGGCTAAAAGAG	0.289													G|||	3	0.000599042	0	0.0014	5008	,	,		15523	0		0.002	False		,,,				2504	0					uc009zqr.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.e3-1		Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.		G		2,3602		0,2,1800	57	53	54		99	2.3	1	12		54	14,8100		0,14,4043	yes	coding-synonymous-near-splice	TMBIM4	NM_016056.2		0,16,5843	AA,AG,GG		0.1725,0.0555,0.1365		33/239	66547227	16,11702	1802	4057	5859	SO:0001630	splice_region_variant	51643					integral to membrane	protein binding	g.chr12:66547227G>A	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.98-1C>T	12.37:g.66547227G>A						LLPH_uc010ssx.2_Splice_Site|TMBIM4_uc001stc.3_Splice_Site_p.A33_splice|TMBIM4_uc001std.3_Intron|TMBIM4_uc001stf.3_Splice_Site_p.A33_splice|TMBIM4_uc009zqs.3_Splice_Site_p.A33_splice	p.T80_splice	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	3	315	-			33					Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	ENST00000358230.3	37	c.239_splice	CCDS41805.1																																																																																				0.289	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	Silent	A	66547227	G	A	66547227	5	1	84	1	0	0	0	0	0	0	1	0	15979	1014	35	3	641	3	TMBIM4	12	66547227	Splice_Site	SNP	G	TCGA-06-2569-01A-01D-1494-08	58664952	66547227	67304668	24	5702											
WDFY2	115825	broad.mit.edu	37	chr13	52234797	52234797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgtataccatgcaatgcCttgtaagtatccaaatcgct	13	11	7	10	2	0	0	0	0	0	0	2	0	1	0	3	0	4	5	3	0	7	5			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr13:52234797C>G	ENST00000298125.5	+	2	383	c.203C>G	c.(202-204)cCt>cGt	p.P68R		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	68							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATGCAATGCCTTGTAAGTAT	0.403																																						uc001vfp.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(202-204)cCt>cGt		Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.							208	172	184					13																	52234797		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52234797C>G	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.203C>G	13.37:g.52234797C>G	ENSP00000298125:p.Pro68Arg					WDFY2_uc010ads.1_Missense_Mutation_p.P68R|WDFY2_uc010adt.1_Non-coding_Transcript	p.P68R	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	1	543	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	68					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.203C>G	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663043	0.67700	.	.	ENSG00000139668	ENST00000298125	T	0.66460	-0.21	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.140170	0.64402	D	0.000003	T	0.65491	0.2696	M	0.76170	2.325	0.80722	D	1	P	0.44877	0.845	B	0.37346	0.247	T	0.68187	-0.5475	10	0.36615	T	0.2	-6.9993	15.4727	0.75453	0.0:1.0:0.0:0.0	.	68	Q96P53	WDFY2_HUMAN	R	68	ENSP00000298125:P68R	ENSP00000298125:P68R	P	+	2	0	WDFY2	51132798	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.193000	0.58385	2.724000	0.93272	0.557000	0.71058	CCT		0.403	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		G	52234797	C	G	52234797	3	3	84	1	0	0	0	0	1	0	0	0	17266	681	24	5	209	5	WDFY2	13	52234797	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		52234797	62935081	25	5703											
DICER1	23405	broad.mit.edu	37	chr14	95560476	95560476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcgcatctcccaggaattCtaagcgctggtaacaatctg	12	10	8	11	2	3	0	0	0	3	0	5	1	3	1	1	2	2	3	1	2	5	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95560476C>G	ENST00000526495.1	-	26	5404	c.5113G>C	c.(5113-5115)Gaa>Caa	p.E1705Q	DICER1_ENST00000393063.1_Missense_Mutation_p.E1705Q|DICER1_ENST00000556045.1_Missense_Mutation_p.E603Q|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.E1705Q|DICER1_ENST00000527414.1_Missense_Mutation_p.E1705Q|DICER1_ENST00000343455.3_Missense_Mutation_p.E1705Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1705	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		E -> K (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCCAGGAATTCTAAGCGCTGG	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5113-5115)Gaa>Caa		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							64	68	67					14																	95560476		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560476C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5113G>C	14.37:g.95560476C>G	ENSP00000437256:p.Glu1705Gln					DICER1_uc010avh.1_Missense_Mutation_p.E603Q|DICER1_uc021sbc.1_Missense_Mutation_p.E1705Q|DICER1_uc001ydv.2_Missense_Mutation_p.E1695Q|DICER1_uc001ydx.2_Missense_Mutation_p.E1705Q	p.E1705Q	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	5325	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1705			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5113G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099852	0.94197	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.43	5.43	0.79202	Ribonuclease III (6);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.99564	1.0969	10	0.87932	D	0	-26.2861	19.2735	0.94021	0.0:1.0:0.0:0.0	.	603;1705	B3KRG4;Q9UPY3	.;DICER_HUMAN	Q	1705;1705;1705;1705;603;1705	ENSP00000343745:E1705Q;ENSP00000437256:E1705Q;ENSP00000376783:E1705Q;ENSP00000435681:E1705Q;ENSP00000451041:E603Q;ENSP00000444719:E1705Q	ENSP00000343745:E1705Q	E	-	1	0	DICER1	94630229	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.421000	0.80204	2.549000	0.85964	0.655000	0.94253	GAA		0.527	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			G	95560476	C	G	95560476	3	3	84	1	0	0	0	0	1	0	0	0	4521	922	32	5	671	5	DICER1	14	95560476	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		95560476	11789064	26	5704											
DICER1	23405	broad.mit.edu	37	chr14	95571502	95571519	+	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	AAAGTATGCTGGGGAGAC	-																															caaaaggcagtgaaggcgatAaagtatgctggggagacaaa																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	ENST00000526495.1	-	22	3449_3466	c.3158_3175delGTCTCCCCAGCATACTTT	c.(3157-3177)tgtctccccagcatactttat>tat	p.CLPSIL1053del	DICER1_ENST00000393063.1_In_Frame_Del_p.CLPSIL1053del|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000541352.1_In_Frame_Del_p.CLPSIL1053del|DICER1_ENST00000527414.1_In_Frame_Del_p.CLPSIL1053del|DICER1_ENST00000343455.3_In_Frame_Del_p.CLPSIL1053del			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1053					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAAGGCGATAAAGTATGCTGGGGAGACAAACAGCTTT	0.472			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3157-3177)tgtctccccagcatactttat>tat		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3158_3175delGTCTCCCCAGCATACTTT	14.37:g.95571502_95571519delAAAGTATGCTGGGGAGAC	ENSP00000437256:p.Cys1053_Leu1058del					DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydv.2_In_Frame_Del_p.CLPSIL1043del|DICER1_uc001ydx.2_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_In_Frame_Del_p.CLPSIL335del	p.CLPSIL1053del	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3370_3387	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1053					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	In_Frame_Del	DEL	ENST00000526495.1	37	c.3158_3175delGTCTCCCCAGCATACTTT	CCDS9931.1																																																																																				0.472	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			-	95571519	AAAGTATGCTGGGGAGAC	-	95571502	7	5	84	1	0	1	0	1	0	0	0	0	4521	362	13	0	2625	0	DICER1	14	95571502	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	TCGA-06-2569-01A-01D-1494-08	11026	95571502	11778038	27	5705											
ITGAD	3681	broad.mit.edu	37	chr16	31422097	31422097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtggaagggggtacagaaCctggtcctgggggccccccg	6	6	17	12	1	0	1	0	0	0	1	1	2	1	2	5	6	2	1	5	6	3	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr16:31422097C>A	ENST00000389202.2	+	12	1303	c.1254C>A	c.(1252-1254)aaC>aaA	p.N418K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	418					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGTACAGAACCTGGTCCTGG	0.647																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1252-1254)aaC>aaA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							33	35	34					16																	31422097		2197	4299	6496	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422097C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1254C>A	16.37:g.31422097C>A	ENSP00000373854:p.Asn418Lys					ITGAD_uc002ebv.1_Missense_Mutation_p.N418K	p.N418K	NM_005353	NP_005344	Q13349	ITAD_HUMAN			11	1303	+			418					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1254C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	c	2.721	-0.266499	0.05754	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.21361	2.01	4.4	2.13	0.27403	.	.	.	.	.	T	0.11665	0.0284	N	0.20685	0.6	0.09310	N	0.999999	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.35001	-0.9806	9	0.14656	T	0.56	.	8.0656	0.30659	0.1686:0.7292:0.0:0.1022	.	434;418	Q59H14;Q13349	.;ITAD_HUMAN	K	434;418	ENSP00000373854:N418K	ENSP00000373854:N418K	N	+	3	2	ITGAD	31329598	0.191000	0.23288	0.966000	0.40874	0.019000	0.09904	0.516000	0.22817	0.824000	0.34613	0.197000	0.17608	AAC		0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31422097	C	A	31422097	3	1	84	1	0	0	0	0	1	0	0	0	7884	506	18	5	1300	5	ITGAD	16	31422097	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		31422097	58932656	28	5706											
TP53	7157	broad.mit.edu	37	chr17	7578456	7578467	+	In_Frame_Del	DEL	GCGGACGCGGGT	GCGGACGCGGGT	-																															tgcttgtagatggccatggcGcggacgcgggtgccgggcgg																								rs371524413|rs139200646|rs563378859|rs587780068|rs121912654|rs587782144	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:7578456_7578467delGCGGACGCGGGT	ENST00000269305.4	-	5	652_663	c.463_474delACCCGCGTCCGC	c.(463-474)acccgcgtccgcdel	p.TRVR155del	TP53_ENST00000420246.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000445888.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000455263.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000359597.4_In_Frame_Del_p.TRVR155del|TP53_ENST00000413465.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.R158L(77)|p.R158H(74)|p.R156P(24)|p.T155N(22)|p.R158C(17)|p.T155P(17)|p.R158G(16)|p.T155I(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.T155A(10)|p.R158P(9)|p.V157D(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.R26H(5)|p.T155T(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.R158_A159insX(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R26fs(2)|p.R156C(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.T155S(2)|p.R65G(2)|p.R158_A159delRA(2)|p.V157fs*22(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.R156_V157del(1)|p.A159fs*11(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.V157_R158delVR(1)|p.R156fs*20(1)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.R156_V157insV(1)|p.A159fs*21(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.V157_M160delVRAM(1)|p.T62I(1)|p.R65fs*11(1)|p.T155fs*15(1)|p.T155_A161delTRVRAMA(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.R156_R158delRVR(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156delTR(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.R156_A161del(1)|p.V157fs*23(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCATGGCGCGGACGCGGGTGCCGGGCGGG	0.623		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		679	Substitution - Missense(547)|Deletion - Frameshift(54)|Deletion - In frame(20)|Substitution - coding silent(19)|Complex(10)|Insertion - Frameshift(8)|Whole gene deletion(8)|Insertion - In frame(6)|Unknown(5)|Complex - frameshift(2)	p.V157F(312)|p.R158H(140)|p.R158L(138)|p.R156P(48)|p.T155N(42)|p.G154V(41)|p.R158C(34)|p.T155P(33)|p.R158G(28)|p.T155I(26)|p.R156fs*14(22)|p.V157I(20)|p.R156H(20)|p.T155A(18)|p.R158P(18)|p.V157D(16)|p.V157G(14)|p.V157L(12)|p.R158fs*12(12)|p.G154G(12)|p.R158R(12)|p.V157V(10)|p.T155T(10)|p.R158fs*11(9)|p.G154S(9)|p.R158_A159insX(8)|p.R26L(8)|p.R65L(8)|p.R158fs(8)|p.0?(8)|p.V25F(6)|p.R156S(6)|p.R156R(6)|p.R156fs*25(6)|p.R156G(6)|p.R156L(6)|p.G154D(6)|p.V64F(6)|p.V157fs*13(6)|p.R26H(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.T155fs*23(4)|p.V157del(4)|p.V157fs*9(4)|p.R156C(4)|p.G154fs*14(4)|p.R156_I162delRVRAMAI(4)|p.T155S(4)|p.R158_A159delRA(4)|p.V157fs*22(4)|p.V157fs*24(4)|p.G154I(3)|p.G154fs*27(3)|p.R65fs(2)|p.R156_V157del(2)|p.V157A(2)|p.G154_R156delGTR(2)|p.T155fs*25(2)|p.V157_R158delVR(2)|p.R156fs*20(2)|p.R26fs(2)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.R156del(2)|p.G154fs*16(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.G154C(2)|p.D148_T155delDSTPPPGT(2)|p.R156_V157insV(2)|p.V157_M160delVRAM(2)|p.T155fs*15(2)|p.T155_A161delTRVRAMA(2)|p.V157_I162delVRAMAI(2)|p.R26G(2)|p.V157fs*21(2)|p.V157fs*25(2)|p.R158fs*24(2)|p.T155fs*26(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.T155_R156delTR(2)|p.R158fs*8(2)|p.P151_V173del23(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*23(2)|p.R158F(2)|p.R158_A159insXX(2)|p.G154fs*22(2)|p.A159fs*11(1)|p.Q144_G154del11(1)|p.R156fs*?(1)|p.R26fs*11(1)|p.T62P(1)|p.G154A(1)|p.A159fs*21(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.R65fs*11(1)|p.P153_G154insX(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.D148fs*23(1)|p.R158_A161del(1)	lung(192)|upper_aerodigestive_tract(62)|oesophagus(52)|central_nervous_system(50)|breast(47)|large_intestine(43)|haematopoietic_and_lymphoid_tissue(38)|liver(38)|ovary(30)|urinary_tract(23)|stomach(22)|skin(17)|prostate(12)|kidney(10)|soft_tissue(9)|pancreas(7)|bone(7)|biliary_tract(6)|vulva(5)|endometrium(2)|thyroid(2)|thymus(2)|genital_tract(1)|adrenal_gland(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004341|CM942117|CM984589|CM994513	TP53	M		c.(463-474)acccgcgtccgcdel	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578456_7578467delGCGGACGCGGGT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.463_474delACCCGCGTCCGC	17.37:g.7578456_7578467delGCGGACGCGGGT	ENSP00000269305:p.Thr155_Arg158del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_In_Frame_Del_p.TRVR155del|TP53_uc002gih.3_In_Frame_Del_p.TRVR155del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.TRVR23del|TP53_uc010cnf.1_In_Frame_Del_p.TRVR23del|TP53_uc002gii.1_In_Frame_Del_p.TRVR23del|TP53_uc010cni.1_In_Frame_Del_p.TRVR155del|TP53_uc010cnh.1_In_Frame_Del_p.TRVR155del|TP53_uc002gij.2_In_Frame_Del_p.TRVR155del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.TRVR62del|TP53_uc002gio.2_In_Frame_Del_p.TRVR23del|TP53_uc010vug.2_In_Frame_Del_p.TRVR116del	p.TRVR155del	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	657_668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.463_474delACCCGCGTCCGC	CCDS11118.1																																																																																				0.623	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578467	GCGGACGCGGGT	-	7578456	7	5	84	1	0	1	0	1	0	0	0	0	16378	1074	38	0	824	0	TP53	17	7578456	In_Frame_Del	DEL	GCGGACGCGGGT	TCGA-06-2569-01A-01D-1494-08		7578456	73616754	29	5707											
EVI2B	2124	broad.mit.edu	37	chr17	29631684	29631684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcactatcttctgatgtaCcatttacttgatcttttatt	9	19	4	9	0	3	2	0	2	3	0	3	2	3	2	1	0	3	2	1	0	4	9			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29631684C>G	ENST00000330927.4	-	2	1098	c.944G>C	c.(943-945)gGt>gCt	p.G315A	EVI2B_ENST00000577894.1_Missense_Mutation_p.G315A|EVI2B_ENST00000544462.1_Missense_Mutation_p.G330A|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	315						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCTGATGTACCATTTACTTG	0.388																																						uc010csq.2																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(988-990)gGt>gCt		Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.							196	155	169					17																	29631684		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631684C>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.944G>C	17.37:g.29631684C>G	ENSP00000333779:p.Gly315Ala					NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.G315A|EVI2B_uc021tuk.1_Missense_Mutation_p.G315A	p.G330A	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1172	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	315					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.989G>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560080	0.45590	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.57273	0.42;0.41	5.64	3.48	0.39840	.	0.313649	0.23463	N	0.047902	T	0.56731	0.2005	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.969	T	0.54132	-0.8339	10	0.48119	T	0.1	-22.6176	9.3864	0.38345	0.0:0.7714:0.1462:0.0824	.	330;315	B7Z4A7;P34910	.;EVI2B_HUMAN	A	315;330	ENSP00000333779:G315A;ENSP00000439738:G330A	ENSP00000333779:G315A	G	-	2	0	EVI2B	26655810	0.722000	0.28017	0.993000	0.49108	0.615000	0.37417	0.324000	0.19610	2.660000	0.90430	0.655000	0.94253	GGT		0.388	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		G	29631684	C	G	29631684	3	3	84	1	0	0	0	0	1	0	0	0	5288	507	18	5	406	5	EVI2B	17	29631684	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	22053228	29631684	51563526	30	5708											
NF1	4763	broad.mit.edu	37	chr17	29653042	29653043	+	Frame_Shift_Ins	INS	-	-	A																															tctccgcagtctatatctatINSaactgtaactcctgggtcag																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29653042_29653043insA	ENST00000358273.4	+	37	5423_5424	c.5040_5041insA	c.(5041-5043)aacfs	p.N1681fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.N1660fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1681	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTATATCTATAACTGTAACTC	0.46			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5038-5043)tataacfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29653042_29653043insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5042dupA	17.37:g.29653044_29653044dupA	ENSP00000351015:p.Asn1681fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Ins_p.Y1659fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.Y692fs|NF1_uc010cso.3_5'UTR	p.Y1680fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	36	5423_5424	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1680			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.5040_5041insA	CCDS42292.1																																																																																				0.46	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29653043	-	A	29653042	7	5	84	1	0	1	1	0	0	0	0	0	10356	1413	49	0	5247	0	NF1	17	29653042	Frame_Shift_Ins	INS	-	TCGA-06-2569-01A-01D-1494-08	21358	29653042	51542168	31	5709											
GAS2L2	246176	broad.mit.edu	37	chr17	34073121	34073121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaggcccaggcactcGgctgggccaaaggaacgagg	10	3	16	12	2	0	1	0	1	0	0	1	3	0	2	3	6	2	2	3	6	2	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:34073121G>A	ENST00000254466.6	-	6	1422	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	GAS2L2_ENST00000587565.1_Silent_p.A449A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	465					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGCACTCGGCTGGGCCAA	0.622																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1393-1395)gcC>gcT		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							97	110	106					17																	34073121		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073121G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1395C>T	17.37:g.34073121G>A							p.A465A	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1423	-		Ovarian(249;0.17)	465					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1395C>T	CCDS11298.1																																																																																				0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		A	34073121	G	A	34073121	2	1	84	1	0	0	0	0	0	0	0	1	6247	1103	39	2		2	GAS2L2	17	34073121	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	4420079	34073121	47122089	32	5710											
ACACA	31	broad.mit.edu	37	chr17	35444255	35444255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggaagctcttcctacGtggaaggggaatccattgtg	10	9	14	8	1	1	0	0	0	1	0	3	3	3	3	2	5	2	2	2	5	4	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:35444255G>A	ENST00000394406.2	-	56	7227	c.7037C>T	c.(7036-7038)aCg>aTg	p.T2346M	ACACA_ENST00000360679.3_Missense_Mutation_p.T2288M|ACACA_ENST00000361253.5_Missense_Mutation_p.T472M|ACACA_ENST00000353139.5_Missense_Mutation_p.T2383M|ACACA_ENST00000335166.5_Missense_Mutation_p.T2268M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2346					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCTTCCTACGTGGAAGGGGA	0.517																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(7036-7038)aCg>aTg		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						170	118	135					17																	35444255		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35444255G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.7037C>T	17.37:g.35444255G>A	ENSP00000377928:p.Thr2346Met					ACACA_uc002hnk.3_Missense_Mutation_p.T2268M|ACACA_uc002hnl.3_Missense_Mutation_p.T2288M|ACACA_uc002hnn.3_Missense_Mutation_p.T2346M|ACACA_uc002hno.3_Missense_Mutation_p.T2383M|ACACA_uc010cuy.3_Missense_Mutation_p.T991M|ACACA_uc010wdb.2_Missense_Mutation_p.T384M|ACACA_uc010wdc.2_Missense_Mutation_p.T472M	p.T2346M	NM_198836	NP_942135	Q13085	ACACA_HUMAN			55	7228	-		Breast(25;0.00157)|Ovarian(249;0.15)	2346					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.7037C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005652	0.74932	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;T	0.95238	-3.65;-3.65;-3.64;-3.64;-0.41	5.82	5.82	0.92795	.	0.228496	0.46145	D	0.000313	D	0.93497	0.7925	N	0.22421	0.69	0.80722	D	1	D;P;D;P;P	0.56521	0.963;0.947;0.976;0.739;0.917	P;P;P;P;P	0.51945	0.609;0.681;0.685;0.487;0.685	D	0.94246	0.7489	10	0.87932	D	0	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	384;1045;2383;2346;2288	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	M	2383;2288;2346;2370;2268;1045;472	ENSP00000344789:T2383M;ENSP00000353898:T2288M;ENSP00000377928:T2346M;ENSP00000335323:T2268M;ENSP00000354565:T472M	ENSP00000335323:T2268M	T	-	2	0	ACACA	32518368	1.000000	0.71417	0.620000	0.29132	0.062000	0.15995	7.611000	0.82962	2.757000	0.94681	0.655000	0.94253	ACG		0.517	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		A	35444255	G	A	35444255	3	1	84	1	0	0	0	0	1	0	0	0	106	1145	40	1	7	1	ACACA	17	35444255	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	1371134	35444255	45750955	33	5711											
FADS6	283985	broad.mit.edu	37	chr17	72875610	72875610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatcgagtggccgaacGcccagtccagcacgggcagc	9	5	14	13	4	0	2	0	2	0	0	2	4	1	2	3	2	3	2	3	2	1	0	rs531632048		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:72875610G>C	ENST00000310226.6	-	5	844	c.830C>G	c.(829-831)gCg>gGg	p.A277G		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	283					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGGCCGAACGCCCAGTCCAG	0.612																																						uc002jmd.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(829-831)gCg>gGg		Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.							53	58	56					17																	72875610		2040	4188	6228	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72875610G>C	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.830C>G	17.37:g.72875610G>C	ENSP00000307821:p.Ala277Gly					FADS6_uc010wrn.1_Missense_Mutation_p.A131G	p.A277G	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			4	842	-	all_lung(278;0.172)|Lung NSC(278;0.207)		283					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.830C>G	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541253	0.45280	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.18174	2.23	5.54	4.58	0.56647	Fatty acid desaturase, type 1 (1);	0.393157	0.28198	N	0.016240	T	0.19525	0.0469	L	0.51422	1.61	0.23773	N	0.996888	P;P	0.48503	0.911;0.911	P;B	0.46172	0.506;0.306	T	0.08617	-1.0713	10	0.22109	T	0.4	-11.2246	11.2631	0.49095	0.0698:0.1274:0.8028:0.0	.	131;283	B4DEP0;Q8N9I5	.;FADS6_HUMAN	G	277;131	ENSP00000307821:A277G	ENSP00000307821:A277G	A	-	2	0	FADS6	70387205	1.000000	0.71417	0.916000	0.36221	0.976000	0.68499	3.223000	0.51231	1.326000	0.45319	0.655000	0.94253	GCG		0.612	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			C	72875610	G	C	72875610	3	2	84	1	0	0	0	0	1	0	0	0	5368	1087	38	5	230	5	FADS6	17	72875610	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	37431355	72875610	8319600	34	5712											
KLK15	55554	broad.mit.edu	37	chr19	51330190	51330190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgggacaccaggccccagCcagacaccacacaggcctcc	10	3	10	18	0	0	1	0	0	0	1	1	2	1	2	7	3	1	0	7	3	0	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr19:51330190C>A	ENST00000598239.1	-	3	455	c.425G>T	c.(424-426)gGc>gTc	p.G142V	KLK15_ENST00000301421.2_Missense_Mutation_p.G142V|KLK15_ENST00000326856.4_Missense_Mutation_p.G141V|KLK15_ENST00000596931.1_Missense_Mutation_p.G141V|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	142	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGGCCCCAGCCAGACACCAC	0.692																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(424-426)gGc>gTc		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.							26	29	28					19																	51330190		2203	4299	6502	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330190C>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.425G>T	19.37:g.51330190C>A	ENSP00000469315:p.Gly142Val					KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Missense_Mutation_p.G142V|KLK15_uc002pto.3_Missense_Mutation_p.G141V|KLK15_uc010ych.2_Intron|KLK15_uc010yci.2_Missense_Mutation_p.G141V|KLK15_uc010eod.3_Non-coding_Transcript	p.G142V	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	2	456	-		all_neural(266;0.057)	142			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.425G>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.604122	0.87157	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.99548	-6.14	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000228	D	0.99792	0.9912	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96907	0.9664	10	0.87932	D	0	.	12.6389	0.56698	0.0:1.0:0.0:0.0	.	142;141;142	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	V	142	ENSP00000301421:G142V	ENSP00000301421:G142V	G	-	2	0	KLK15	56022002	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.454000	0.66651	2.454000	0.82982	0.555000	0.69702	GGC		0.692	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		A	51330190	C	A	51330190	3	1	84	1	0	0	0	0	1	0	0	0	8403	739	26	5	357	5	KLK15	19	51330190	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		51330190	7798793	35	5713											
CD93	22918	broad.mit.edu	37	chr20	23065723	23065723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggctcatagccaacccaGcattcgcagcggaagccccc	9	4	9	19	3	1	0	1	0	0	0	2	1	1	1	5	2	5	3	5	2	3	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:23065723G>A	ENST00000246006.4	-	1	1254	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	369	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCAACCCAGCATTCGCAGC	0.642																																						uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1105-1107)tgC>tgT		Homo sapiens CD93 molecule (CD93), mRNA.							39	41	40					20																	23065723		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065723G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1107C>T	20.37:g.23065723G>A							p.C369C	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	1255	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		369			EGF-like 3; calcium-binding (Potential).		O00274	Silent	SNP	ENST00000246006.4	37	c.1107C>T	CCDS13149.1																																																																																				0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23065723	G	A	23065723	2	1	84	1	0	0	0	0	0	0	0	1	3047	963	34	3		3	CD93	20	23065723	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		23065723	39959797	36	5714											
MANBAL	63905	broad.mit.edu	37	chr20	35944753	35944753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgaggtgacgaggAagcccaaggctgctgttcct	9	8	15	9	1	0	2	0	2	0	0	1	5	1	3	2	3	3	4	2	3	3	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:35944753A>G	ENST00000373605.3	+	4	1005	c.193A>G	c.(193-195)Aag>Gag	p.K65E	MANBAL_ENST00000397152.3_Missense_Mutation_p.K65E|MANBAL_ENST00000397150.1_3'UTR|MANBAL_ENST00000397151.1_Missense_Mutation_p.K65E|MANBAL_ENST00000397156.3_Missense_Mutation_p.K65E|MANBAL_ENST00000373606.3_Missense_Mutation_p.K65E			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	65						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GGTGACGAGGAAGCCCAAGGC	0.552																																						uc002xgu.3																			0				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(193-195)Aag>Gag		Homo sapiens mannosidase, beta A, lysosomal-like (MANBAL), transcript variant 1, mRNA.							67	65	65					20																	35944753		2203	4300	6503	SO:0001583	missense	63905					integral to membrane		g.chr20:35944753A>G		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.193A>G	20.37:g.35944753A>G	ENSP00000362707:p.Lys65Glu					MANBAL_uc002xgv.3_Missense_Mutation_p.K65E|MANBAL_uc002xgw.3_Non-coding_Transcript	p.K65E	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN			3	405	+		Myeloproliferative disorder(115;0.00878)	65					A8KAA6|E1P5V3	Missense_Mutation	SNP	ENST00000373605.3	37	c.193A>G	CCDS13293.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434179	0.43224	.	.	ENSG00000101363	ENST00000373606;ENST00000397156;ENST00000397152;ENST00000373605;ENST00000397151	.	.	.	4.97	4.97	0.65823	.	0.088897	0.85682	D	0.000000	T	0.53270	0.1786	.	.	.	0.45822	D	0.998699	B	0.29936	0.262	B	0.35727	0.209	T	0.57590	-0.7785	8	0.66056	D	0.02	-23.9135	10.9668	0.47416	1.0:0.0:0.0:0.0	.	65	Q9NQG1	MANBL_HUMAN	E	65	.	ENSP00000362707:K65E	K	+	1	0	MANBAL	35378167	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	4.599000	0.61076	2.096000	0.63516	0.533000	0.62120	AAG		0.552	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077		G	35944753	A	G	35944753	3	3	84	1	0	0	0	0	1	0	0	0	9220	247	9	4	199	4	MANBAL	20	35944753	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08	12879030	35944753	27080767	37	5715											
PCDH19	57526	broad.mit.edu	37	chrX	99663291	99663291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggacatgacctcgagcGagatgatgcacttggggctc	9	8	14	10	2	0	3	0	2	0	1	2	6	0	4	1	3	3	3	1	3	0	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chrX:99663291G>A	ENST00000373034.4	-	1	1980	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PCDH19_ENST00000420881.2_Missense_Mutation_p.S102L|PCDH19_ENST00000255531.7_Missense_Mutation_p.S102L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTCGAGCGAGATGATGCA	0.557																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(304-306)tCg>tTg		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.							103	98	99					X																	99663291		2138	4237	6375	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663291G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.305C>T	X.37:g.99663291G>A	ENSP00000362125:p.Ser102Leu					PCDH19_uc004efw.4_Missense_Mutation_p.S102L|PCDH19_uc004efx.4_Missense_Mutation_p.S102L	p.S102L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	1981	-			102			Cadherin 1.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.305C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.657980	0.67586	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.28666	1.6;1.6;1.6	5.7	5.7	0.88788	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.61036	1.89	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.52373	-0.8584	10	0.46703	T	0.11	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	102;102;102	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	L	102	ENSP00000400327:S102L;ENSP00000362125:S102L;ENSP00000255531:S102L	ENSP00000255531:S102L	S	-	2	0	PCDH19	99549947	1.000000	0.71417	0.954000	0.39281	0.971000	0.66376	6.584000	0.74057	2.385000	0.81259	0.544000	0.68410	TCG		0.557	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99663291	G	A	99663291	3	1	84	1	0	0	0	0	1	0	0	0	11514	1059	37	2	3165	2	PCDH19	23	99663291	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		99663291	55607269	38	5716											
WDR78	79819	broad.mit.edu	37	chr1	67313167	67313167	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttattttttttaaatacCttttaaaacaggaagctgac	13	18	5	5	0	0	1	0	1	0	0	0	2	0	2	1	1	3	2	1	1	7	9			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:67313167C>T	ENST00000371026.3	-	8	1346	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	WDR78_ENST00000431318.1_Splice_Site_p.E177K|WDR78_ENST00000371023.3_Splice_Site_p.E431K	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	431	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTAAATACCTTTTAAAACA	0.393																																						uc001dcx.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.e8+1		Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.							36	37	36					1																	67313167		2203	4299	6502	SO:0001630	splice_region_variant	79819							g.chr1:67313167C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1291+1G>A	1.37:g.67313167C>T						WDR78_uc001dcy.3_Splice_Site_p.E431_splice|WDR78_uc009waw.3_Splice_Site_p.E177_splice|WDR78_uc009wax.3_Splice_Site	p.E431_splice	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			8	1347	-			431			Glu-rich.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1291_splice	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632830	0.87660	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023	T;T;T;T	0.67698	0.37;-0.26;-0.28;2.12	5.03	5.03	0.67393	.	0.100081	0.64402	D	0.000004	T	0.53706	0.1813	M	0.67953	2.075	0.41277	D	0.986881	B;B;B	0.26876	0.045;0.162;0.083	B;B;B	0.24974	0.057;0.051;0.037	T	0.55159	-0.8184	9	.	.	.	-8.4993	17.478	0.87666	0.0:1.0:0.0:0.0	.	177;431;431	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	K	431;177;197;431	ENSP00000360065:E431K;ENSP00000393182:E177K;ENSP00000433682:E197K;ENSP00000360062:E431K	.	E	-	1	0	WDR78	67085755	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.169000	0.71913	2.496000	0.84212	0.455000	0.32223	GAA		0.393	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Missense_Mutation	T	67313167	C	T	67313167	5	4	85	1	0	0	0	0	0	0	1	0	17325	695	24	3	1352	3	WDR78	1	67313167	Splice_Site	SNP	C	TCGA-06-2570-01A-01D-1495-08		67313167	181937454	1	5717											
FLG	2312	broad.mit.edu	37	chr1	152278655	152278655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagaccacctctcagagtCttctgaatgtccctcactgt	8	11	6	16	0	4	3	2	1	3	2	6	3	5	3	4	0	0	0	4	0	1	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:152278655C>T	ENST00000368799.1	-	3	8742	c.8707G>A	c.(8707-8709)Gac>Aac	p.D2903N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2903	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCAGAGTCTTCTGAATGT	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8707-8709)Gac>Aac		Homo sapiens filaggrin (FLG), mRNA.							116	186	164					1																	152278655		2032	4296	6328	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278655C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8707G>A	1.37:g.152278655C>T	ENSP00000357789:p.Asp2903Asn						p.D2903N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8743	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2903			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8707G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478408	0.26511	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01998	4.51	3.27	2.32	0.28847	.	.	.	.	.	T	0.02970	0.0088	M	0.76002	2.32	0.09310	N	1	D	0.69078	0.997	P	0.60682	0.878	T	0.43327	-0.9398	9	0.30854	T	0.27	.	6.9006	0.24281	0.0:0.8625:0.0:0.1375	.	2903	P20930	FILA_HUMAN	N	2903;165	ENSP00000357789:D2903N	ENSP00000357786:D165N	D	-	1	0	FLG	150545279	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	0.658000	0.30925	0.306000	0.20318	GAC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152278655	C	T	152278655	3	4	85	1	0	0	0	0	1	0	0	0	5922	913	32	3	3482	3	FLG	1	152278655	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	84965488	152278655	96971966	2	5718											
OR2W3	343171	broad.mit.edu	37	chr1	248059605	248059605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcagaaggccttcggCacctgcggctcccatctcac	8	6	12	15	2	1	1	1	0	1	1	4	2	2	2	3	5	1	3	3	5	2	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:248059605C>T	ENST00000360358.3	+	1	717	c.717C>T	c.(715-717)ggC>ggT	p.G239G	OR2W3_ENST00000537741.1_Silent_p.G239G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGCCTTCGGCACCTGCGGCT	0.522																																						uc010pzb.2																			0		p.G239V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(715-717)ggC>ggT		Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.							172	156	161					1																	248059605		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059605C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.717C>T	1.37:g.248059605C>T						OR2W3_uc001idp.1_Silent_p.G239G	p.G239G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		0	717	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		239					Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.717C>T	CCDS31099.1																																																																																				0.522	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		T	248059605	C	T	248059605	2	4	85	1	0	0	0	0	0	0	0	1	11033	697	25	3		3	OR2W3	1	248059605	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	95780950	248059605	1191016	3	5719											
C2orf55	343990	broad.mit.edu	37	chr2	99438353	99438353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccttttctccgccgTcctgggctccttcctgggtt	1	13	11	16	3	1	0	0	0	1	0	5	0	4	0	6	3	1	2	6	3	0	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:99438353T>C	ENST00000397899.2	-	7	2714	c.2383A>G	c.(2383-2385)Acg>Gcg	p.T795A		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	795	Pro-rich.																TTCTCCGCCGTCCTGGGCTCC	0.721																																						uc002szf.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(2383-2385)Acg>Gcg		Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.							14	16	15					2																	99438353		1864	4099	5963	SO:0001583	missense	343990							g.chr2:99438353T>C	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2383A>G	2.37:g.99438353T>C	ENSP00000380996:p.Thr795Ala						p.T795A	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			6	2677	-			795			Pro-rich.			Missense_Mutation	SNP	ENST00000397899.2	37	c.2383A>G	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303145	0.23736	.	.	ENSG00000196872	ENST00000397899	T	0.41400	1.0	3.97	-7.68	0.01268	.	3.904070	0.00772	N	0.001202	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28996	-1.0026	10	0.07030	T	0.85	0.0051	8.2285	0.31584	0.0:0.5385:0.2809:0.1806	.	795	Q6NV74	CB055_HUMAN	A	795	ENSP00000380996:T795A	ENSP00000380996:T795A	T	-	1	0	C2orf55	98804785	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.069000	0.03444	-1.512000	0.01791	0.378000	0.23410	ACG		0.721	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		C	99438353	T	C	99438353	3	2	85	1	0	0	0	0	1	0	0	0	2176	1667	58	4	521	4	C2orf55	2	99438353	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		99438353	143761020	4	5720											
RIF1	55183	broad.mit.edu	37	chr2	152322631	152322631	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatctcatcacctgttaaTaaggtaaggggaatgaggct	14	10	11	6	0	2	1	2	1	1	0	3	3	2	2	1	4	0	3	1	4	5	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:152322631T>C	ENST00000243326.5	+	29	7080	c.6597T>C	c.(6595-6597)aaT>aaC	p.N2199N	RIF1_ENST00000428287.2_Silent_p.N2199N|RIF1_ENST00000444746.2_Silent_p.N2199N|RIF1_ENST00000430328.2_Silent_p.N2199N|RIF1_ENST00000453091.2_Silent_p.N2199N			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CACCTGTTAATAAGGTAAGGG	0.398																																						uc002txm.3																			0		p.N2199H(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6595-6597)aaT>aaC		Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.							50	53	52					2																	152322631		2201	4298	6499	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322631T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6597T>C	2.37:g.152322631T>C						RIF1_uc002txn.3_Silent_p.N2199N|RIF1_uc002txl.3_Silent_p.N2199N|RIF1_uc002txo.3_Silent_p.N2199N|RIF1_uc002txp.3_Non-coding_Transcript	p.N2199N	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6758	+			2199			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.6597T>C	CCDS2194.1																																																																																				0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			C	152322631	T	C	152322631	2	2	85	1	0	0	0	0	0	0	0	1	13359	1403	49	4		4	RIF1	2	152322631	Silent	SNP	T	TCGA-06-2570-01A-01D-1495-08	52884278	152322631	90876742	5	5721											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	85	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	56790481	209113112	34086261	6	5722											
RUFY4	285180	broad.mit.edu	37	chr2	218940356	218940356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtccttcagggacacGcaacaaaggaagactctacc	12	6	10	13	1	2	1	1	0	1	1	3	3	3	3	3	3	2	1	3	3	4	2	rs369707895		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:218940356G>A	ENST00000344321.7	+	9	1659	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	RUFY4_ENST00000374155.3_Missense_Mutation_p.A401T|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	381							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGACACGCAACAAAGGA	0.622																																						uc010fvl.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1141-1143)Gca>Aca		Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.							52	53	53					2																	218940356		1956	4134	6090	SO:0001583	missense	285180						metal ion binding	g.chr2:218940356G>A	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1141G>A	2.37:g.218940356G>A	ENSP00000345900:p.Ala381Thr					RUFY4_uc002vgw.3_Missense_Mutation_p.A208T	p.A381T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1659	+		Renal(207;0.0915)	381					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1141G>A		.	.	.	.	.	.	.	.	.	.	G	9.553	1.116399	0.20795	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.48201	1.47;0.82	4.41	2.6	0.31112	.	0.887992	0.09459	N	0.799378	T	0.21841	0.0526	N	0.02539	-0.55	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.18429	-1.0337	10	0.11794	T	0.64	-1.1496	10.7557	0.46234	0.1031:0.0:0.8969:0.0	.	381	Q6ZNE9	RUFY4_HUMAN	T	381;401	ENSP00000345900:A381T;ENSP00000363270:A401T	ENSP00000345900:A381T	A	+	1	0	RUFY4	218648601	0.088000	0.21588	0.001000	0.08648	0.001000	0.01503	1.509000	0.35780	0.483000	0.27608	-1.314000	0.01303	GCA		0.622	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		A	218940356	G	A	218940356	3	1	85	1	0	0	0	0	1	0	0	0	13741	1087	38	1	1167	1	RUFY4	2	218940356	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	9827244	218940356	24259017	7	5723											
CHRND	1144	broad.mit.edu	37	chr2	233392979	233392979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggattccagggctggaCagacaaccggctgaagtgga	10	8	15	8	1	0	2	0	1	0	1	1	5	1	5	2	5	1	2	2	5	2	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:233392979C>A	ENST00000258385.3	+	4	283	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Missense_Mutation_p.T84K|CHRND_ENST00000543200.1_Missense_Mutation_p.T69K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	84					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGGGCTGGACAGACAACCGG	0.577																																						uc002vsw.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(250-252)aCa>aAa		Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.							97	96	96					2																	233392979		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233392979C>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.251C>A	2.37:g.233392979C>A	ENSP00000258385:p.Thr84Lys					CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.T69K|CHRND_uc010zmh.2_5'UTR	p.T84K	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	3	255	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	84					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.251C>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303566	0.23736	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.16	2.32	0.28847	Neurotransmitter-gated ion-channel ligand-binding (3);	0.426860	0.24823	N	0.035315	T	0.59404	0.2191	L	0.28274	0.84	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.17433	0.018;0.018	T	0.42632	-0.9440	10	0.21540	T	0.41	.	4.9008	0.13773	0.1696:0.6556:0.0:0.1748	.	69;84	B4DT92;Q07001	.;ACHD_HUMAN	K	69;69;84;84	ENSP00000404950:T69K;ENSP00000438380:T69K;ENSP00000258385:T84K;ENSP00000437740:T84K	ENSP00000258385:T84K	T	+	2	0	CHRND	233101223	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	-0.721000	0.04963	0.510000	0.28216	0.561000	0.74099	ACA		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			A	233392979	C	A	233392979	3	1	85	1	0	0	0	0	1	0	0	0	3394	478	17	5	265	5	CHRND	2	233392979	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	14452623	233392979	9806394	8	5724											
FARP2	9855	broad.mit.edu	37	chr2	242423744	242423744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcccctccaaggcatgCtggtgagtggtcttgcaccc	5	11	10	15	0	1	1	0	1	1	0	4	1	4	1	5	3	2	3	5	3	1	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:242423744C>T	ENST00000264042.3	+	21	2589	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	807	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCAAGGCATGCTGGTGAGTGG	0.587																																						uc002wbi.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(2419-2421)Ctg>Ttg		Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.							69	67	68					2																	242423744		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242423744C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2419C>T	2.37:g.242423744C>T							p.L807L	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	20	2583	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	807			PH 1.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2419C>T	CCDS33424.1																																																																																				0.587	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			T	242423744	C	T	242423744	2	4	85	1	0	0	0	0	0	0	0	1	5677	796	28	3		3	FARP2	2	242423744	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	9030765	242423744	775629	9	5725											
CCR3	1232	broad.mit.edu	37	chr3	46307517	46307517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgacagaggtgatcGcctactcccactgctgcatg	7	10	12	12	1	0	3	0	2	0	1	2	3	1	3	2	2	4	3	2	2	1	1	rs199944063		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:46307517G>A	ENST00000357422.2	+	4	1411	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	CCR3_ENST00000541018.1_Missense_Mutation_p.A290T|CCR3_ENST00000545097.1_Missense_Mutation_p.A311T|CCR3_ENST00000395942.2_Missense_Mutation_p.A290T|CCR3_ENST00000395940.2_Missense_Mutation_p.A290T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	290					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGGTGATCGCCTACTCCCA	0.522																																						uc003cpl.2																			0		p.H323Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(967-969)Gcc>Acc		Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.							124	104	110					3																	46307517		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307517G>A	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.868G>A	3.37:g.46307517G>A	ENSP00000350003:p.Ala290Thr					CCR3_uc003cpg.2_Missense_Mutation_p.A290T|CCR3_uc003cpk.2_Missense_Mutation_p.A311T|CCR3_uc003cpi.2_Missense_Mutation_p.A290T|CCR3_uc010hjb.2_Missense_Mutation_p.A308T|CCR3_uc003cpj.2_Missense_Mutation_p.A290T|CCR3_uc021wwz.1_Missense_Mutation_p.A290T	p.A323T	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	2	1998	+			290					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.967G>A	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087145	0.55968	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.73	-0.946	0.10385	GPCR, rhodopsin-like superfamily (1);	0.474665	0.18676	N	0.134312	T	0.48892	0.1525	M	0.86420	2.815	0.21256	N	0.999742	D;D	0.54964	0.962;0.969	P;P	0.51742	0.55;0.678	T	0.44498	-0.9324	10	0.56958	D	0.05	.	1.7135	0.02896	0.2082:0.0981:0.2695:0.4241	.	311;290	F5GWL6;P51677	.;CCR3_HUMAN	T	290;311;290;290;290	ENSP00000350003:A290T;ENSP00000441600:A311T;ENSP00000440097:A290T;ENSP00000379271:A290T;ENSP00000379273:A290T	ENSP00000350003:A290T	A	+	1	0	CCR3	46282521	0.978000	0.34361	0.809000	0.32408	0.505000	0.33919	2.071000	0.41500	-0.249000	0.09569	0.655000	0.94253	GCC		0.522	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			A	46307517	G	A	46307517	3	1	85	1	0	0	0	0	1	0	0	0	2942	1087	38	1	937	1	CCR3	3	46307517	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		46307517	151714913	10	5726											
DNAH1	25981	broad.mit.edu	37	chr3	52417902	52417902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaggtcttccgagctcGtctgaggcagtttccctccc	5	10	12	14	3	2	2	0	1	2	1	6	4	5	2	3	3	1	3	3	3	0	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:52417902G>A	ENST00000420323.2	+	52	8438	c.8177G>A	c.(8176-8178)cGt>cAt	p.R2726H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2726	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCCGAGCTCGTCTGAGGCAG	0.587																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8176-8178)cGt>cAt		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							42	44	43					3																	52417902		1984	4167	6151	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417902G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8177G>A	3.37:g.52417902G>A	ENSP00000401514:p.Arg2726His					DNAH1_uc003ddv.3_5'Flank	p.R2726H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8438	+			2726			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8177G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883422	0.91740	.	.	ENSG00000114841	ENST00000420323	T	0.57273	0.41	4.19	3.32	0.38043	.	0.000000	0.50627	D	0.000106	T	0.78110	0.4232	H	0.95004	3.61	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.83111	-0.0123	10	0.87932	D	0	.	11.9394	0.52892	0.0844:0.0:0.9156:0.0	.	2726	C9JXH6	.	H	2726	ENSP00000401514:R2726H	ENSP00000401514:R2726H	R	+	2	0	DNAH1	52392942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.522000	0.73783	0.999000	0.39023	0.655000	0.94253	CGT		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52417902	G	A	52417902	3	1	85	1	0	0	0	0	1	0	0	0	4597	1145	40	1	8379	1	DNAH1	3	52417902	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	6110385	52417902	145604528	11	5727											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721982	135721982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtcacagtcagttgaccGgtcagacccttgtagatctt	10	12	9	10	1	4	3	3	1	1	2	4	3	4	3	2	1	0	2	2	1	2	5	rs371563412	byFrequency	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:135721982G>A	ENST00000264977.3	+	2	2259	c.1642G>A	c.(1642-1644)Ggt>Agt	p.G548S	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	548					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTTGACCGGTCAGACCCT	0.398													G|||	7	0.00139776	0	0	5008	,	,		18392	0		0	False		,,,				2504	0.0072					uc003eqv.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1642-1644)Ggt>Agt		Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.		G	,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	55	57	56		,1642	4.6	0.8	3		56	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	PPP2R3A	NM_001190447.1,NM_002718.4	,56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,benign	,548/1151	135721982	3,13003	2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721982G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1642G>A	3.37:g.135721982G>A	ENSP00000264977:p.Gly548Ser					PPP2R3A_uc011blz.2_Intron	p.G548S	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			1	2259	+			548					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1642G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	0.919	-0.716404	0.03206	2.27E-4	2.33E-4	ENSG00000073711	ENST00000264977	T	0.05382	3.45	5.52	4.64	0.57946	.	1.753360	0.02533	N	0.093765	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.06405	0.002	T	0.29027	-1.0025	10	0.35671	T	0.21	.	8.2279	0.31579	0.1871:0.0:0.8129:0.0	.	548	Q06190	P2R3A_HUMAN	S	548	ENSP00000264977:G548S	ENSP00000264977:G548S	G	+	1	0	PPP2R3A	137204672	0.002000	0.14202	0.825000	0.32803	0.063000	0.16089	1.263000	0.33004	1.329000	0.45376	0.462000	0.41574	GGT		0.398	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		A	135721982	G	A	135721982	3	1	85	1	0	0	0	0	1	0	0	0	12388	1116	39	2	1644	2	PPP2R3A	3	135721982	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	83304080	135721982	62300448	12	5728											
PIK3CA	5290	broad.mit.edu	37	chr3	178936083	178936083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgagatcctctctctgAaatcactgagcaggagaaag	14	8	9	10	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:178936083A>T	ENST00000263967.3	+	10	1782	c.1625A>T	c.(1624-1626)gAa>gTa	p.E542V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		13	Substitution - Missense(13)	p.E542K(686)|p.E542V(16)|p.E542Q(8)|p.E542A(6)|p.(542_545)E>K(4)|p.E542G(3)|p.S541T(1)	large_intestine(5)|endometrium(5)|breast(2)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)gAa>gTa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							57	57	57					3																	178936083		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936083A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1625A>T	3.37:g.178936083A>T	ENSP00000263967:p.Glu542Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1782	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1625A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693417	0.88735	.	.	ENSG00000121879	ENST00000263967	T	0.65364	-0.15	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.69135	-0.5225	10	0.33141	T	0.24	-23.9623	16.1026	0.81194	1.0:0.0:0.0:0.0	.	542	P42336	PK3CA_HUMAN	V	542	ENSP00000263967:E542V	ENSP00000263967:E542V	E	+	2	0	PIK3CA	180418777	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178936083	A	T	178936083	3	4	85	1	0	0	0	0	1	0	0	0	11913	246	9	5	1659	5	PIK3CA	3	178936083	Missense_Mutation	SNP	A	TCGA-06-2570-01A-01D-1495-08	43214101	178936083	19086347	13	5729											
LEPREL1	55214	broad.mit.edu	37	chr3	189681756	189681756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaactcaccaattctctAtaaagtgggtccaaggtgaa	15	9	9	8	0	2	2	1	1	1	1	4	3	3	2	2	2	1	0	2	2	7	3	rs578158144		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:189681756A>G	ENST00000319332.5	-	14	2222	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	LEPREL1_ENST00000427335.2_Silent_p.Y494Y	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	675					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAATTCTCTATAAAGTGGGT	0.483																																						uc011bsk.2																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(2023-2025)taT>taC		Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						107	106	106					3																	189681756		2203	4300	6503	SO:0001819	synonymous_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189681756A>G		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.2025T>C	3.37:g.189681756A>G						LEPREL1_uc003fsg.3_Silent_p.Y494Y	p.Y675Y	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	13	2413	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		675					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	c.2025T>C	CCDS3294.1																																																																																				0.483	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		G	189681756	A	G	189681756	2	3	85	1	0	0	0	0	0	0	0	1	8730	456	16	4		4	LEPREL1	3	189681756	Silent	SNP	A	TCGA-06-2570-01A-01D-1495-08	10745673	189681756	8340674	14	5730											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtggactggcccggccGgtacaaattttcgggcacta	8	8	13	12	4	0	0	0	0	0	0	1	2	0	1	3	5	1	2	3	5	3	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2422-2424)cGg>cAg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							97	94	95					5																	5239938		1859	4088	5947	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239938G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2423G>A	5.37:g.5239938G>A	ENSP00000274181:p.Arg808Gln					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R808Q	p.R808Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			15	2561	+			808			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2423G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660533	0.47572	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.275899	0.31020	N	0.008407	T	0.32041	0.0816	L	0.35542	1.07	0.09310	N	0.999998	B;B	0.26081	0.141;0.085	B;B	0.18561	0.02;0.022	T	0.14868	-1.0457	10	0.26408	T	0.33	.	7.7049	0.28644	0.246:0.0:0.754:0.0	.	808;808	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	808	ENSP00000274181:R808Q	ENSP00000274181:R808Q	R	+	2	0	ADAMTS16	5292938	0.005000	0.15991	0.498000	0.27564	0.973000	0.67179	1.239000	0.32719	1.355000	0.45865	0.655000	0.94253	CGG		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		A	5239938	G	A	5239938	3	1	85	1	0	0	0	0	1	0	0	0	261	1116	39	2	2485	2	ADAMTS16	5	5239938	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		5239938	175675322	15	5731											
SKP2	6502	broad.mit.edu	37	chr5	36171807	36171807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacccagctgaatcttagCggctacagaaagaatctcca	14	8	7	12	1	3	3	1	1	2	2	4	3	3	3	2	1	3	2	2	1	5	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:36171807C>A	ENST00000274255.6	+	7	1069	c.873C>A	c.(871-873)agC>agA	p.S291R	SKP2_ENST00000546211.1_Missense_Mutation_p.S77R|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.S291R	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAATCTTAGCGGCTACAGAA	0.463																																						uc003jkc.2																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(871-873)agC>agA		Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.							109	104	105					5																	36171807		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36171807C>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.873C>A	5.37:g.36171807C>A	ENSP00000274255:p.Ser291Arg					SKP2_uc003jkd.3_Missense_Mutation_p.S291R|SKP2_uc011cou.2_Missense_Mutation_p.S77R	p.S291R	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1093	+	all_lung(31;5.63e-05)		291					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.873C>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723462	0.68959	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151;ENST00000546211	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.63	-8.64	0.00874	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.82056	2.57	0.48341	D	0.999632	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.80065	-0.1538	10	0.15952	T	0.53	-22.5399	19.0801	0.93178	0.0:0.1357:0.0:0.8643	.	77;291;291	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	R	291;291;257;246;77	ENSP00000274254:S291R;ENSP00000274255:S291R;ENSP00000423188:S246R;ENSP00000443492:S77R	ENSP00000274254:S291R	S	+	3	2	SKP2	36207564	0.492000	0.26027	0.195000	0.23364	0.892000	0.51952	-0.662000	0.05305	-1.737000	0.01350	-1.202000	0.01658	AGC		0.463	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		A	36171807	C	A	36171807	3	1	85	1	0	0	0	0	1	0	0	0	14362	767	27	5	899	5	SKP2	5	36171807	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	30931869	36171807	144743453	16	5732											
HCN1	348980	broad.mit.edu	37	chr5	45695974	45695974	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccccccgccggctcctcGccgccgccgccgccgccgcc	2	2	11	26	9	0	0	0	0	0	0	2	0	1	0	12	1	1	1	12	1	1	0	rs56063136|rs56060059		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:45695974G>C	ENST00000303230.4	-	1	279	c.222C>G	c.(220-222)ggC>ggG	p.G74G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	74	Gly-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGGCTCCTcgccgccgccgc	0.766																																						uc003jok.3																			0		p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(220-222)ggC>ggG		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							4	6	6					5																	45695974		1817	3797	5614	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695974G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.222C>G	5.37:g.45695974G>C							p.G74G	NM_021072	NP_066550	O60741	HCN1_HUMAN			0	247	-			74			Gly-rich.			Silent	SNP	ENST00000303230.4	37	c.222C>G	CCDS3952.1																																																																																				0.766	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		C	45695974	G	C	45695974	2	2	85	1	0	0	0	0	0	0	0	1	6996	1074	38	5		5	HCN1	5	45695974	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08	9524167	45695974	135219286	17	5733											
MAP3K1	4214	broad.mit.edu	37	chr5	56177898	56177898	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccaaagccaatggttcaAacaaaaggcagaccccacag	18	3	7	13	0	1	1	1	0	0	1	1	1	1	1	4	2	3	2	4	2	6	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:56177898A>G	ENST00000399503.3	+	14	2871	c.2871A>G	c.(2869-2871)caA>caG	p.Q957Q		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	957					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATGGTTCAAACAAAAGGCA	0.443																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2869-2871)caA>caG		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							97	95	95					5																	56177898		1910	4150	6060	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177898A>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2871A>G	5.37:g.56177898A>G							p.Q957Q	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	13	3372	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	957						Silent	SNP	ENST00000399503.3	37	c.2871A>G	CCDS43318.1																																																																																				0.443	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		G	56177898	A	G	56177898	2	3	85	1	0	0	0	0	0	0	0	1	9243	11	1	4		4	MAP3K1	5	56177898	Silent	SNP	A	TCGA-06-2570-01A-01D-1495-08	10481924	56177898	124737362	18	5734											
ELOVL7	79993	broad.mit.edu	37	chr5	60053463	60053463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttagaagggcatggaatgttCccaaaccacctggaaaataa	16	8	9	8	0	0	1	0	0	0	1	1	3	1	3	3	3	1	2	3	3	7	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:60053463C>T	ENST00000508821.1	-	8	823	c.509G>A	c.(508-510)gGa>gAa	p.G170E	ELOVL7_ENST00000425382.1_Missense_Mutation_p.G170E|ELOVL7_ENST00000438340.1_Missense_Mutation_p.G170E|ELOVL7_ENST00000505959.1_Missense_Mutation_p.G157E	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	170					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGGAATGTTCCCAAACCACC	0.378																																						uc003jsi.4																			0		p.G170R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(508-510)gGa>gAa		Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.							68	67	67					5																	60053463		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053463C>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.509G>A	5.37:g.60053463C>T	ENSP00000424123:p.Gly170Glu					ELOVL7_uc011cqo.2_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.3_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.4_Missense_Mutation_p.G157E	p.G170E	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			7	709	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	170					Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.509G>A	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976149	0.92982	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.51702	-0.8672	10	0.62326	D	0.03	-6.2576	19.5665	0.95395	0.0:1.0:0.0:0.0	.	157;170	D6RHD0;A1L3X0	.;ELOV7_HUMAN	E	170;170;170;157	ENSP00000424123:G170E;ENSP00000411255:G170E;ENSP00000402634:G170E;ENSP00000421043:G157E	ENSP00000402634:G170E	G	-	2	0	ELOVL7	60089220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.338000	0.79269	2.699000	0.92147	0.655000	0.94253	GGA		0.378	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			T	60053463	C	T	60053463	3	4	85	1	0	0	0	0	1	0	0	0	5079	855	30	3	344	3	ELOVL7	5	60053463	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	3875565	60053463	120861797	19	5735											
KCNK16	83795	broad.mit.edu	37	chr6	39285601	39285601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccatctttcaatggcGgccagatgggcacgcagccc	7	8	10	16	2	2	1	1	0	1	1	4	1	4	1	4	3	1	2	4	3	1	1	rs79043904	byFrequency	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr6:39285601G>A	ENST00000373229.5	-	3	469	c.456C>T	c.(454-456)gcC>gcT	p.A152A	KCNK16_ENST00000425054.2_Silent_p.A152A|KCNK16_ENST00000373227.4_Silent_p.A152A|KCNK16_ENST00000507712.1_Silent_p.A87A|KCNK16_ENST00000437525.2_Silent_p.A152A	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	152					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TTTCAATGGCGGCCAGATGGG	0.592													G|||	11	0.00219649	0	0.0014	5008	,	,		20107	0.0099		0	False		,,,				2504	0					uc003oor.4																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(454-456)gcC>gcT		Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.		G	,,,	4,4402	4.2+/-10.8	0,4,2199	39	35	36		456,456,456,456	2.6	0.4	6	dbSNP_131	36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNK16	NM_001135105.1,NM_001135106.1,NM_001135107.1,NM_032115.3	,,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,,	152/323,152/295,152/263,152/310	39285601	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285601G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.456C>T	6.37:g.39285601G>A						KCNK16_uc003ooq.3_Silent_p.A152A|KCNK16_uc010jwy.3_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	p.A152A	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN			2	470	-			152					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	c.456C>T	CCDS4843.1																																																																																				0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		A	39285601	G	A	39285601	2	1	85	1	0	0	0	0	0	0	0	1	8063	1103	39	2		2	KCNK16	6	39285601	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08		39285601	131829466	20	5736											
AVL9	23080	broad.mit.edu	37	chr7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgatgactgtgttatcccTttttccaggtaagaaaacag	12	13	8	8	0	0	3	0	2	0	1	2	3	2	3	2	1	1	2	2	1	4	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:32598232T>C	ENST00000318709.4	+	9	892	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_ENST00000404479.1_Missense_Mutation_p.L224P|AVL9_ENST00000409301.1_Missense_Mutation_p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	224					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328																																						uc003tcv.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(670-672)cTt>cCt		Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.							111	111	111					7																	32598232		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598232T>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.671T>C	7.37:g.32598232T>C	ENSP00000315568:p.Leu224Pro					AVL9_uc011kai.2_Missense_Mutation_p.L224P|AVL9_uc010kwj.1_Missense_Mutation_p.L65P	p.L224P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			8	817	+			224					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.671T>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366848	0.82463	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.78314	0.983;0.991;0.946	D	0.88174	0.2866	10	0.87932	D	0	-27.2944	15.2208	0.73310	0.0:0.0:0.0:1.0	.	224;224;224	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	P	224;224;224;224;155	ENSP00000315568:L224P;ENSP00000387011:L224P;ENSP00000385242:L224P;ENSP00000395134:L155P	ENSP00000315568:L224P	L	+	2	0	AVL9	32564757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.632000	0.61311	2.006000	0.58801	0.477000	0.44152	CTT		0.328	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		C	32598232	T	C	32598232	3	2	85	1	0	0	0	0	1	0	0	0	1228	1609	56	4	705	4	AVL9	7	32598232	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		32598232	126540431	21	5737											
ABCB4	5244	broad.mit.edu	37	chr7	87069034	87069034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtgtccaatgctgaCgtggcctcatccagcagaag	8	11	10	12	1	2	2	1	1	1	1	4	2	4	2	3	1	2	2	3	1	2	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87069034C>T	ENST00000265723.4	-	14	1791	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	ABCB4_ENST00000545634.1_Silent_p.T560T|ABCB4_ENST00000453593.1_Silent_p.T560T|ABCB4_ENST00000358400.3_Silent_p.T560T|ABCB4_ENST00000359206.3_Silent_p.T560T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCAATGCTGACGTGGCCTCAT	0.537																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1678-1680)acG>acA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							149	132	138					7																	87069034		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069034C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1680G>A	7.37:g.87069034C>T						ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	p.T560T	NM_018849	NP_061337	P21439	MDR3_HUMAN			13	1756	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		560			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.1680G>A	CCDS5606.1																																																																																				0.537	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87069034	C	T	87069034	2	4	85	1	0	0	0	0	0	0	0	1	43	523	19	1		1	ABCB4	7	87069034	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	54470802	87069034	72069629	22	5738											
ABCB1	5243	broad.mit.edu	37	chr7	87133728	87133728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatcacaatgcaggtgCggccttctctggctttgtcc	7	11	11	12	1	2	0	1	0	1	0	4	1	3	0	2	3	3	3	2	3	2	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87133728C>T	ENST00000265724.3	-	29	4091	c.3674G>A	c.(3673-3675)cGc>cAc	p.R1225H	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1161H|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1225	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AATGCAGGTGCGGCCTTCTCT	0.453																																						uc003uiz.2																			0		p.R1225C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3673-3675)cGc>cAc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						95	92	93					7																	87133728		2203	4298	6501	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87133728C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3674G>A	7.37:g.87133728C>T	ENSP00000265724:p.Arg1225His					ABCB1_uc011khc.2_Missense_Mutation_p.R1161H	p.R1225H	NM_000927	NP_000918	P08183	MDR1_HUMAN			28	4167	-	Esophageal squamous(14;0.00164)		1225			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3674G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452115	0.96223	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85088	-1.94;-1.94	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63877	0.905;0.919	D	0.89747	0.3937	10	0.87932	D	0	-4.4239	19.0588	0.93078	0.0:1.0:0.0:0.0	.	1161;1225	B5AK60;P08183	.;MDR1_HUMAN	H	1006;1225;1161	ENSP00000265724:R1225H;ENSP00000444095:R1161H	ENSP00000265724:R1225H	R	-	2	0	ABCB1	86971664	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.780000	0.85658	2.744000	0.94065	0.655000	0.94253	CGC		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87133728	C	T	87133728	3	4	85	1	0	0	0	0	1	0	0	0	40	768	27	1	172	1	ABCB1	7	87133728	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	64694	87133728	72004935	23	5739											
LRRC6	23639	broad.mit.edu	37	chr8	133584685	133584685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtcacatcagggaatgAgtgcttgctagggtctactt	9	13	12	7	0	3	1	2	1	1	0	3	2	3	2	0	2	3	3	0	2	4	5			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:133584685A>T	ENST00000519595.1	-	12	1368	c.1270T>A	c.(1270-1272)Tca>Aca	p.S424T	LRRC6_ENST00000250173.1_Missense_Mutation_p.S424T|LRRC6_ENST00000518642.1_3'UTR			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	424					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCAGGGAATGAGTGCTTGCTA	0.373																																						uc003ytk.3																			0		p.H423Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(1270-1272)Tca>Aca		Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.							264	242	250					8																	133584685		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133584685A>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1270T>A	8.37:g.133584685A>T	ENSP00000429791:p.Ser424Thr					LRRC6_uc022bbp.1_Missense_Mutation_p.S424T|LRRC6_uc003ytl.3_Non-coding_Transcript	p.S424T	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1344	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		424					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.1270T>A		.	.	.	.	.	.	.	.	.	.	A	14.84	2.655637	0.47467	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000250173	T;T;T	0.50001	0.76;0.9;0.76	5.5	4.33	0.51752	.	0.206162	0.42548	D	0.000700	T	0.60894	0.2304	M	0.74258	2.255	0.43942	D	0.996608	D	0.63046	0.992	P	0.58210	0.835	T	0.62927	-0.6750	10	0.56958	D	0.05	-9.6097	9.9672	0.41732	0.8299:0.1701:0.0:0.0	.	424	Q86X45	LRRC6_HUMAN	T	424;164;424	ENSP00000429791:S424T;ENSP00000428015:S164T;ENSP00000250173:S424T	ENSP00000250173:S424T	S	-	1	0	LRRC6	133653867	1.000000	0.71417	0.822000	0.32727	0.530000	0.34684	3.824000	0.55723	1.012000	0.39366	0.533000	0.62120	TCA		0.373	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		T	133584685	A	T	133584685	3	4	85	1	0	0	0	0	1	0	0	0	9016	304	11	5	134	5	LRRC6	8	133584685	Missense_Mutation	SNP	A	TCGA-06-2570-01A-01D-1495-08		133584685	12779337	24	5740											
NDRG1	10397	broad.mit.edu	37	chr8	134258899	134258899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtccaattttgagttgCactccacctgcacaagaggg	9	11	11	10	0	0	2	0	1	0	1	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:134258899C>T	ENST00000414097.2	-	13	1682	c.815G>A	c.(814-816)tGc>tAc	p.C272Y	NDRG1_ENST00000518176.1_Missense_Mutation_p.C19Y|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000323851.7_Missense_Mutation_p.C272Y|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.C202Y|NDRG1_ENST00000522476.1_Missense_Mutation_p.C206Y|NDRG1_ENST00000537882.1_Missense_Mutation_p.C191Y	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	272					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTTTGAGTTGCACTCCACCTG	0.473			T	ERG	prostate																																	uc003yuh.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(814-816)tGc>tAc		Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.							149	138	142					8																	134258899		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134258899C>T	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.815G>A	8.37:g.134258899C>T	ENSP00000404854:p.Cys272Tyr					NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	p.C272Y	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		12	1401	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		272					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.815G>A	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720327	0.89205	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000518176;ENST00000535532;ENST00000522476	T;T;T;T;T;T	0.27890	1.64;2.23;1.64;2.23;2.23;2.23	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.87578	0.954;0.998	T	0.71276	-0.4641	10	0.87932	D	0	-35.4408	18.2739	0.90077	0.0:1.0:0.0:0.0	.	19;272	E7ESM1;Q92597	.;NDRG1_HUMAN	Y	272;202;272;191;19;100;206	ENSP00000319977:C272Y;ENSP00000347028:C202Y;ENSP00000404854:C272Y;ENSP00000437443:C191Y;ENSP00000429007:C19Y;ENSP00000427894:C206Y	ENSP00000319977:C272Y	C	-	2	0	NDRG1	134328081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.266000	0.78452	2.557000	0.86248	0.650000	0.86243	TGC		0.473	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			T	134258899	C	T	134258899	3	4	85	1	0	0	0	0	1	0	0	0	10251	710	25	3	385	3	NDRG1	8	134258899	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	674214	134258899	12105123	25	5741											
RASEF	158158	broad.mit.edu	37	chr9	85615141	85615141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaagtctcatgaggaaacTagacttccccactgcagcgt	12	8	9	12	1	1	2	1	1	1	1	3	3	2	3	2	1	3	2	2	1	3	2	rs375201668		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr9:85615141T>C	ENST00000376447.3	-	12	1926	c.1666A>G	c.(1666-1668)Agt>Ggt	p.S556G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	556					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATGAGGAAACTAGACTTCCCC	0.458																																						uc004amo.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1666-1668)Agt>Ggt		Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.		T	GLY/SER	0,4406		0,0,2203	102	100	101		1666	6	1	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASEF	NM_152573.2	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	556/741	85615141	1,13005	2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615141T>C	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1666A>G	9.37:g.85615141T>C	ENSP00000365630:p.Ser556Gly						p.S556G	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			11	1927	-			556					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1666A>G	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	29.4	4.999783	0.93227	0.0	1.16E-4	ENSG00000165105	ENST00000376447	D	0.83506	-1.73	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.043674	0.85682	D	0.000000	D	0.94251	0.8154	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95792	0.8825	10	0.66056	D	0.02	.	16.2619	0.82550	0.0:0.0:0.0:1.0	.	556	Q8IZ41	RASEF_HUMAN	G	556	ENSP00000365630:S556G	ENSP00000365630:S556G	S	-	1	0	RASEF	84804961	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.612000	0.82975	2.317000	0.78254	0.460000	0.39030	AGT		0.458	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		C	85615141	T	C	85615141	3	2	85	1	0	0	0	0	1	0	0	0	13068	1522	53	4	580	4	RASEF	9	85615141	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		85615141	55598290	26	5742											
GYLTL1B	120071	broad.mit.edu	37	chr11	45945056	45945056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatcgtgtgtgcggggcaTaactccagccgagacgtcat	8	8	13	12	4	1	1	1	0	0	1	3	2	2	1	3	2	3	1	3	2	1	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:45945056T>C	ENST00000531526.1	+	3	429	c.318T>C	c.(316-318)caT>caC	p.H106H	GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000401752.1_Silent_p.H106H|GYLTL1B_ENST00000536139.1_Silent_p.H75H|GYLTL1B_ENST00000325468.5_Silent_p.H106H|GYLTL1B_ENST00000529052.1_Silent_p.H75H	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	106					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.H106Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGCGGGGCATAACTCCAGCC	0.627																																						uc001nbv.1																			1	Substitution - Missense(1)	p.H106Q(2)	breast(1)	breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(316-318)caT>caC		Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.							140	111	121					11																	45945056		2203	4299	6502	SO:0001819	synonymous_variant	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45945056T>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.318T>C	11.37:g.45945056T>C						GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H	p.H106H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	2	429	+			106					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	c.318T>C	CCDS31473.1																																																																																				0.627	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		C	45945056	T	C	45945056	2	2	85	1	0	0	0	0	0	0	0	1	6907	1403	49	4		4	GYLTL1B	11	45945056	Silent	SNP	T	TCGA-06-2570-01A-01D-1495-08		45945056	89061460	27	5743											
AMBRA1	55626	broad.mit.edu	37	chr11	46568697	46568697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacctccccatctaggCagccagaagcaataaggcct	12	7	7	15	0	1	1	0	0	1	1	3	1	3	1	6	2	3	2	6	2	5	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:46568697C>A	ENST00000458649.2	-	4	762	c.344G>T	c.(343-345)tGc>tTc	p.C115F	AMBRA1_ENST00000533727.1_Missense_Mutation_p.C115F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.C115F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.C115F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.C115F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.C115F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.C115F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	115					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCATCTAGGCAGCCAGAAGC	0.443																																						uc001ncv.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(343-345)tGc>tTc		Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.							138	119	126					11																	46568697		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46568697C>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.344G>T	11.37:g.46568697C>A	ENSP00000415327:p.Cys115Phe					AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc010rgu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	p.C115F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	3	658	-			115					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.344G>T		.	.	.	.	.	.	.	.	.	.	C	18.33	3.601113	0.66332	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.48877	1.53	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.999;0.997	D;D;D;D;D;D	0.87578	0.998;0.997;0.997;0.994;0.996;0.994	T	0.72312	-0.4331	10	0.59425	D	0.04	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	115;115;115;115;115;115	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	F	115	ENSP00000318313:C115F;ENSP00000433372:C115F;ENSP00000431926:C115F;ENSP00000410899:C115F;ENSP00000298834:C115F;ENSP00000415327:C115F;ENSP00000433945:C115F	ENSP00000298834:C115F	C	-	2	0	AMBRA1	46525273	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.467000	0.80930	2.727000	0.93392	0.655000	0.94253	TGC		0.443	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		A	46568697	C	A	46568697	3	1	85	1	0	0	0	0	1	0	0	0	565	710	25	5	3346	5	AMBRA1	11	46568697	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	623641	46568697	88437819	28	5744											
DDB2	1643	broad.mit.edu	37	chr11	47254492	47254492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacattctacgagtttttgCcagctcagacaccatcaagt	12	11	6	12	1	3	1	2	0	1	1	3	2	3	1	2	0	4	2	2	0	3	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:47254492C>T	ENST00000256996.4	+	4	779	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DDB2_ENST00000378603.3_Missense_Mutation_p.A131V|DDB2_ENST00000378601.3_Missense_Mutation_p.A195V|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	195					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CGAGTTTTTGCCAGCTCAGAC	0.453			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"Mis, N"	damage-specific DNA binding protein 2			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.(583-585)gCc>gTc	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.							163	136	145					11																	47254492		2201	4298	6499	SO:0001583	missense	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47254492C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.584C>T	11.37:g.47254492C>T	ENSP00000256996:p.Ala195Val					DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.A131V|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	p.A195V	NM_000107	NP_000098	Q92466	DDB2_HUMAN			3	779	+			195					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.584C>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233303	0.58886	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378601	T;T;T	0.67171	-0.25;2.81;1.61	5.86	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.416111	0.31041	N	0.008364	T	0.55337	0.1914	L	0.40543	1.245	0.33863	D	0.634005	B;B;B	0.27229	0.066;0.172;0.108	B;B;B	0.17979	0.015;0.02;0.015	T	0.60875	-0.7176	10	0.16896	T	0.51	-10.7256	15.0887	0.72177	0.0:0.9321:0.0:0.0679	.	131;195;195	Q92466-4;Q92466-5;Q92466	.;.;DDB2_HUMAN	V	195;131;195	ENSP00000256996:A195V;ENSP00000367866:A131V;ENSP00000367864:A195V	ENSP00000256996:A195V	A	+	2	0	DDB2	47211068	1.000000	0.71417	0.891000	0.34965	0.990000	0.78478	3.796000	0.55507	1.487000	0.48415	0.655000	0.94253	GCC		0.453	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		T	47254492	C	T	47254492	3	4	85	1	0	0	0	0	1	0	0	0	4324	739	26	3	598	3	DDB2	11	47254492	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	685795	47254492	87752024	29	5745											
INTS5	80789	broad.mit.edu	37	chr11	62416142	62416142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatctaaaaagggcacCaagcggggaggtgggggcgg	11	3	19	8	3	1	0	0	0	1	0	1	1	1	1	1	7	2	2	1	7	4	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:62416142C>A	ENST00000330574.2	-	2	1462	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	470					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAAAGGGCACCAAGCGGGGAG	0.592																																						uc001nud.3																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1408-1410)ttG>ttT		Homo sapiens integrator complex subunit 5 (INTS5), mRNA.							61	66	64					11																	62416142		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416142C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1410G>T	11.37:g.62416142C>A	ENSP00000327889:p.Leu470Phe					GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	p.L470F	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			1	1463	-			470					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1410G>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.247621	0.01469	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.87	-8.75	0.00834	.	0.565694	0.19088	N	0.123058	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.22683	0.073	B	0.17433	0.018	T	0.05068	-1.0908	9	0.35671	T	0.21	.	1.5355	0.02544	0.3435:0.2878:0.2475:0.1211	.	470	Q6P9B9	INT5_HUMAN	F	470	.	ENSP00000327889:L470F	L	-	3	2	INTS5	62172718	0.000000	0.05858	0.161000	0.22692	0.258000	0.26162	-1.915000	0.01578	-1.369000	0.02147	-0.302000	0.09304	TTG		0.592	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		A	62416142	C	A	62416142	3	1	85	1	0	0	0	0	1	0	0	0	7781	593	21	5	1653	5	INTS5	11	62416142	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	15161650	62416142	72590374	30	5746											
KCNK4	50801	broad.mit.edu	37	chr11	64064379	64064379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctgggagggggtgcGgacccagaaaccaactcgac	10	4	15	12	2	0	1	0	0	0	1	1	5	0	3	3	4	4	0	3	4	2	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:64064379G>A	ENST00000539216.1	+	2	579	c.219G>A	c.(217-219)gcG>gcA	p.A73A	KCNK4_ENST00000538767.1_Missense_Mutation_p.R7Q|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Silent_p.A73A|KCNK4_ENST00000422670.2_Silent_p.A73A|Y_RNA_ENST00000384297.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	73					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GAGGGGGTGCGGACCCAGAAA	0.617																																						uc001nzj.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(217-219)gcG>gcA		Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.							50	59	56					11																	64064379		2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064379G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.219G>A	11.37:g.64064379G>A						KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|C11orf20_uc009ypm.3_5'Flank	p.A73A	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			2	542	+			73					B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	c.219G>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.016839	0.35606	.	.	ENSG00000182450	ENST00000538767	.	.	.	5.3	-6.39	0.01951	.	.	.	.	.	T	0.40645	0.1125	.	.	.	0.47407	D	0.999416	B;B	0.15719	0.001;0.014	B;B	0.06405	0.001;0.002	T	0.07673	-1.0760	7	0.87932	D	0	.	7.5515	0.27800	0.5839:0.0:0.2465:0.1696	.	7;7	B4DJC9;F5GYE0	.;.	Q	7	.	ENSP00000446454:R7Q	R	+	2	0	KCNK4	63820955	0.002000	0.14202	0.206000	0.23566	0.935000	0.57460	-1.286000	0.02788	-0.900000	0.03896	-1.088000	0.02184	CGG		0.617	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		A	64064379	G	A	64064379	2	1	85	1	0	0	0	0	0	0	0	1	8068	1103	39	2		2	KCNK4	11	64064379	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08	1648237	64064379	70942137	31	5747											
IRAK3	11213	broad.mit.edu	37	chr12	66597538	66597538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttcgtcatattgaaaagTatgtagaccaaggtaaaagt	16	12	9	4	1	1	2	1	1	0	1	2	2	1	2	1	1	0	4	1	1	8	6			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr12:66597538T>C	ENST00000261233.4	+	2	602	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTGAAAAGTATGTAGACCA	0.398																																						uc001sth.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(181-183)Tat>Cat		Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.							82	78	79					12																	66597538		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597538T>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.181T>C	12.37:g.66597538T>C	ENSP00000261233:p.Tyr61His					IRAK3_uc010ssy.2_Intron	p.Y61H	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	1	283	+			61			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.181T>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.343946	0.24339	.	.	ENSG00000090376	ENST00000261233	T	0.59772	0.24	5.81	3.4	0.38934	Death (3);DEATH-like (2);	0.284442	0.30036	N	0.010566	T	0.49270	0.1547	L	0.56769	1.78	0.80722	D	1	B	0.21071	0.051	B	0.26864	0.074	T	0.33033	-0.9884	9	.	.	.	-17.3114	6.1874	0.20506	0.0:0.0831:0.1612:0.7557	.	61	Q9Y616	IRAK3_HUMAN	H	61	ENSP00000261233:Y61H	.	Y	+	1	0	IRAK3	64883805	0.997000	0.39634	0.782000	0.31804	0.323000	0.28346	1.526000	0.35964	0.441000	0.26529	-0.438000	0.05819	TAT		0.398	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			C	66597538	T	C	66597538	3	2	85	1	0	0	0	0	1	0	0	0	7824	1638	57	4	187	4	IRAK3	12	66597538	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		66597538	67254357	32	5748											
STK24	8428	broad.mit.edu	37	chr13	99127230	99127230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagacagcaggacgttggCcgctgcaaaagaaagccaag	14	4	12	11	2	1	2	1	0	0	2	1	3	1	3	2	2	3	4	2	2	4	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr13:99127230C>T	ENST00000376547.3	-	5	623	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	STK24_ENST00000539966.1_Missense_Mutation_p.A129T|STK24_ENST00000397517.2_Missense_Mutation_p.A148T	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACGTTGGCCGCTGCAAAA	0.627																																						uc001vnm.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(478-480)Gcc>Acc		Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.							39	38	38					13																	99127230		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127230C>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.478G>A	13.37:g.99127230C>T	ENSP00000365730:p.Ala160Thr					STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	p.A160T	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		4	713	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		160			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.478G>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.478873|5.478873	0.96291|0.96291	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.53938|.	U|.	0.000053|.	T|T	0.75095|0.75095	0.3803|0.3803	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.983;1.0;1.0|.	T|T	0.75519|0.75519	-0.3289|-0.3289	10|5	0.87932|.	D|.	0|.	.|.	18.1019|18.1019	0.89508|0.89508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;148;160|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	T|D	148;160;129;136;148|65	ENSP00000380651:A148T;ENSP00000365730:A160T;ENSP00000442539:A129T|.	ENSP00000365716:A136T|.	A|G	-|-	1|2	0|0	STK24|STK24	97925231|97925231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	7.511000|7.511000	0.81718|0.81718	2.348000|2.348000	0.79779|0.79779	0.549000|0.549000	0.68633|0.68633	GCC|GGC		0.627	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		T	99127230	C	T	99127230	3	4	85	1	0	0	0	0	1	0	0	0	15292	739	26	3	881	3	STK24	13	99127230	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		99127230	16042648	33	5749											
POTEG	404785	broad.mit.edu	37	chr14	19566050	19566050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactacaaagaaaaacagaTgctaaaagtctcttctgaaa	19	9	6	7	0	2	4	0	2	2	2	3	4	2	4	0	0	3	1	0	0	7	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:19566050T>C	ENST00000409832.3	+	6	1146	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	365				M -> I (in Ref. 1; AAS58868). {ECO:0000305}.						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAAAAACAGATGCTAAAAGTC	0.318																																						uc001vuz.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1093-1095)aTg>aCg		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							83	97	92					14																	19566050		1508	2698	4206	SO:0001583	missense	404785							g.chr14:19566050T>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1094T>C	14.37:g.19566050T>C	ENSP00000386971:p.Met365Thr					POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	p.M365T	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1146	+			365	M -> I (in Ref. 1; AAS58868).				A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1094T>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	t	1.814	-0.473961	0.04414	.	.	ENSG00000222036	ENST00000409832	T	0.26223	1.75	2.2	-4.4	0.03600	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.06872	0.0175	N	0.01874	-0.695	0.09310	N	1	P	0.42161	0.772	B	0.40444	0.329	T	0.14839	-1.0458	9	0.14252	T	0.57	.	2.8075	0.05431	0.4283:0.0:0.2254:0.3463	.	365	Q6S5H5	POTEG_HUMAN	T	365	ENSP00000386971:M365T	ENSP00000386971:M365T	M	+	2	0	POTEG	18636050	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.185000	0.03073	-1.464000	0.01902	0.155000	0.16302	ATG		0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		C	19566050	T	C	19566050	3	2	85	1	0	0	0	0	1	0	0	0	12266	1464	51	4	1116	4	POTEG	14	19566050	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		19566050	87783490	34	5750											
NFATC4	4776	broad.mit.edu	37	chr14	24838971	24838971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgcatcacctccatctctCccacgccggagccgccagca	7	6	7	21	4	2	0	1	0	1	0	6	1	5	1	7	1	2	2	7	1	0	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:24838971C>T	ENST00000250373.4	+	2	508	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.P136S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P186S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P53S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P155S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P155S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P53S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P111S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P111S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P123S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P136S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P53S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P123S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P155S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P53S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P186S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P111S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P136S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	123	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTCCATCTCTCCCACGCCGGA	0.677																																						uc001wpc.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(367-369)Ccc>Tcc		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.							9	11	10					14																	24838971		2173	4245	6418	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838971C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.367C>T	14.37:g.24838971C>T	ENSP00000250373:p.Pro123Ser					NFATC4_uc010alr.3_Missense_Mutation_p.P186S|NFATC4_uc010tok.2_Missense_Mutation_p.P186S|NFATC4_uc010tol.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010too.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.2_Missense_Mutation_p.P136S|NFATC4_uc010ton.2_Missense_Mutation_p.P136S|NFATC4_uc010toq.2_Missense_Mutation_p.P155S|NFATC4_uc010alt.3_Missense_Mutation_p.P155S|NFATC4_uc010top.2_Missense_Mutation_p.P155S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P123S|NFATC4_uc010tos.2_Missense_Mutation_p.P53S|NFATC4_uc010tot.2_Missense_Mutation_p.P111S|NFATC4_uc010tou.2_Missense_Mutation_p.P53S|NFATC4_uc010tov.2_Missense_Mutation_p.P111S|NFATC4_uc010tow.2_Missense_Mutation_p.P53S|NFATC4_uc010alv.3_Missense_Mutation_p.P111S|NFATC4_uc010tox.2_Missense_Mutation_p.P53S	p.P123S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	688	+			123			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.367C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836653	0.50951	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52	3.76	2.85	0.33270	.	0.085528	0.46442	D	0.000293	T	0.25232	0.0613	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.60160	0.985;0.959;0.985;0.985;0.985;0.959;0.959;0.985;0.985;0.959;0.985;0.987;0.985;0.931	P;P;P;P;P;P;P;P;P;P;P;P;P;B	0.56612	0.595;0.456;0.595;0.456;0.595;0.456;0.456;0.595;0.595;0.456;0.456;0.802;0.595;0.268	T	0.01140	-1.1439	10	0.54805	T	0.06	-4.9353	10.2072	0.43120	0.2008:0.7992:0.0:0.0	.	111;111;155;155;136;136;136;186;186;111;155;100;186;123	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	186;186;136;136;136;155;155;155;123;123;123;123;100;53;53;53;111;53;111;111	ENSP00000388910:P186S;ENSP00000452039:P186S;ENSP00000451224:P136S;ENSP00000450644:P136S;ENSP00000388668:P136S;ENSP00000439350:P155S;ENSP00000452270:P155S;ENSP00000451502:P155S;ENSP00000451151:P123S;ENSP00000451853:P123S;ENSP00000250373:P123S;ENSP00000450590:P123S;ENSP00000452352:P100S;ENSP00000452349:P53S;ENSP00000450469:P53S;ENSP00000450733:P53S;ENSP00000451454:P111S;ENSP00000451284:P53S;ENSP00000396788:P111S;ENSP00000450686:P111S	ENSP00000250373:P123S	P	+	1	0	NFATC4	23908811	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	4.937000	0.63513	0.776000	0.33473	-0.318000	0.08688	CCC		0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		T	24838971	C	T	24838971	3	4	85	1	0	0	0	0	1	0	0	0	10365	855	30	3	566	3	NFATC4	14	24838971	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	5272921	24838971	82510569	35	5751											
MLH3	27030	broad.mit.edu	37	chr14	75514227	75514227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagagggggatgtatcaGataatatgcaatctgtttgt	13	12	13	3	0	2	2	1	0	1	2	2	4	2	4	0	3	1	3	0	3	5	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:75514227G>C	ENST00000556740.1	-	1	2167	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S711C|MLH3_ENST00000355774.2_Missense_Mutation_p.S711C|MLH3_ENST00000238662.7_Missense_Mutation_p.S711C|MLH3_ENST00000380968.2_De_novo_Start_OutOfFrame			Q9UHC1	MLH3_HUMAN	mutL homolog 3	711					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGATGTATCAGATAATATGCA	0.363								Mismatch excision repair (MMR)																														uc001xrd.1																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(2131-2133)tCt>tGt	Mismatch excision repair (MMR)	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.							90	90	90					14																	75514227		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514227G>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2132C>G	14.37:g.75514227G>C	ENSP00000452316:p.Ser711Cys					MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_Non-coding_Transcript	p.S711C	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	1	2348	-			711					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2132C>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301713	0.23736	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	6.07	2.05	0.26809	.	0.950782	0.08858	N	0.883455	T	0.31979	0.0814	L	0.29908	0.895	0.09310	N	1	D;P	0.58970	0.984;0.906	P;B	0.50192	0.634;0.43	T	0.13548	-1.0505	10	0.44086	T	0.13	-0.7871	4.6688	0.12678	0.3146:0.0:0.539:0.1464	.	711;711	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	C	711	ENSP00000348020:S711C;ENSP00000238662:S711C;ENSP00000451540:S711C;ENSP00000452316:S711C	ENSP00000238662:S711C	S	-	2	0	MLH3	74583980	0.000000	0.05858	0.008000	0.14137	0.120000	0.20174	0.162000	0.16501	0.376000	0.24707	0.655000	0.94253	TCT		0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		C	75514227	G	C	75514227	3	2	85	1	0	0	0	0	1	0	0	0	9618	942	33	5	2277	5	MLH3	14	75514227	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	50675256	75514227	31835313	36	5752											
PKD1L2	114780	broad.mit.edu	37	chr16	81134885	81134885	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacgatctccccttcctccGacagctgcaagagaaagaac	12	7	7	15	2	1	2	0	0	1	2	4	5	3	2	4	0	4	2	4	0	4	2	rs201386227		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:81134885G>A	ENST00000534142.1	-	0	1610				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTTCCTCCGACAGCTGCAA	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		15953	0		0	False		,,,				2504	0					uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(7216-7218)tCg>tTg		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.		G	LEU/SER	7,3841		0,7,1917	38	38	38		7222	3.6	0	16		38	5,8281		0,5,4138	yes	missense	PKD1L2	NM_052892.3	145	0,12,6055	AA,AG,GG		0.0603,0.1819,0.0989	probably-damaging	2408/2460	81134885	12,12122	1924	4143	6067			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81134885G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81134885G>A						PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_Non-coding_Transcript	p.S2406L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			44	7217	-			2408			Interaction with GNAS and GNAI1.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.7217C>T																																																																																					0.443	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			A	81134885	G	A	81134885	1	1	85	0	1	0	0	0	0	0	0	0	11965	1059	37	2		2	PKD1L2	16	81134885	RNA	SNP	G	TCGA-06-2570-01A-01D-1495-08		81134885	9219868	37	5753											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGCCAGTTGGCAAAACATC	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971503	TP53	M		c.(406-408)Caa>Gaa	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							52	52	52					17																	7578524		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	p.Q136E	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	600	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.406C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578524	G	C	7578524	3	2	85	1	0	0	0	0	1	0	0	0	16378	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		7578524	73616686	38	5754											
AMAC1	146861	broad.mit.edu	37	chr17	33520927	33520927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacggtggaagaacctttgcGaacagtggcagcgttgccag	10	7	15	9	3	0	1	0	0	0	1	0	4	0	2	2	3	5	2	2	3	3	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:33520927G>A	ENST00000297307.5	-	1	485	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	134	EamA 1.					integral component of membrane (GO:0016021)											GAACCTTTGCGAACAGTGGCA	0.607																																						uc002hjd.2																			0											c.(400-402)Cgc>Tgc		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							144	138	140					17																	33520927		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520927G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.400C>T	17.37:g.33520927G>A	ENSP00000297307:p.Arg134Cys						p.R134C	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN			0	486	-			134			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.400C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	7.326	0.617938	0.14129	.	.	ENSG00000164729	ENST00000297307	T	0.69040	-0.37	.	.	.	.	0.000000	0.48286	D	0.000199	T	0.43678	0.1258	N	0.24115	0.695	0.42578	D	0.993206	B	0.13594	0.008	B	0.10450	0.005	T	0.11690	-1.0577	9	0.38643	T	0.18	-7.8871	2.6646	0.05037	0.4962:0.0:0.5037:0.0	.	134	Q8N808	S35G3_HUMAN	C	134	ENSP00000297307:R134C	ENSP00000297307:R134C	R	-	1	0	SLC35G3	30545040	1.000000	0.71417	0.282000	0.24776	0.284000	0.27059	1.146000	0.31589	0.064000	0.16427	0.064000	0.15345	CGC		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33520927	G	A	33520927	3	1	85	1	0	0	0	0	1	0	0	0	559	1058	37	2	620	2	AMAC1	17	33520927	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	25942403	33520927	47674283	39	5755											
SPATA20	64847	broad.mit.edu	37	chr17	48626428	48626428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagcggcgggggctggCccatgaatgtgtggctgact	6	7	17	11	2	0	2	0	2	0	0	0	2	0	2	2	5	2	3	2	5	1	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:48626428C>T	ENST00000356488.4	+	5	576	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	SPATA20_ENST00000006658.6_Missense_Mutation_p.P181S|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.P121S	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	165					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGGGGCTGGCCCATGAATGT	0.657																																						uc002ird.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(541-543)Ccc>Tcc		Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.							37	41	39					17																	48626428		2202	4300	6502	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48626428C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.493C>T	17.37:g.48626428C>T	ENSP00000348878:p.Pro165Ser					SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.P121S|SPATA20_uc002irf.3_Missense_Mutation_p.P165S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.3_Non-coding_Transcript	p.P181S	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		5	682	+	Breast(11;1.23e-18)		165					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.541C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253359	0.95336	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	D;D;D	0.87729	-2.29;-2.29;-2.29	4.92	4.92	0.64577	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99198	1.0872	10	0.87932	D	0	-17.821	18.1114	0.89537	0.0:1.0:0.0:0.0	.	191;165;181	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	S	181;165;121	ENSP00000006658:P181S;ENSP00000348878:P165S;ENSP00000376935:P121S	ENSP00000006658:P181S	P	+	1	0	SPATA20	45981427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.567000	0.82357	2.282000	0.76494	0.561000	0.74099	CCC		0.657	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		T	48626428	C	T	48626428	3	4	85	1	0	0	0	0	1	0	0	0	15005	739	26	3	563	3	SPATA20	17	48626428	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	15105501	48626428	32568782	40	5756											
TYK2	7297	broad.mit.edu	37	chr19	10473108	10473108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggggaactttcggagccGcaagctctgcatgccgtctg	8	9	13	11	3	2	0	0	0	2	0	3	2	2	2	2	3	5	3	2	3	3	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:10473108G>A	ENST00000525621.1	-	11	1982	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	TYK2_ENST00000529370.1_Missense_Mutation_p.R501W|TYK2_ENST00000524462.1_Missense_Mutation_p.R316W|TYK2_ENST00000264818.6_Missense_Mutation_p.R501W	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	501	SH2; atypical.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTTCGGAGCCGCAAGCTCTGC	0.677																																						uc002moc.4																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1501-1503)Cgg>Tgg		Homo sapiens tyrosine kinase 2 (TYK2), mRNA.							22	25	24					19																	10473108		2201	4300	6501	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10473108G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1501C>T	19.37:g.10473108G>A	ENSP00000431885:p.Arg501Trp					TYK2_uc010dxe.3_Missense_Mutation_p.R316W|TYK2_uc002mod.2_Missense_Mutation_p.R501W	p.R501W	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		10	1879	-			501			SH2; atypical.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1501C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862818	0.51482	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.98	2.83	0.33086	SH2 motif (2);	0.649699	0.13511	N	0.382509	T	0.14614	0.0353	L	0.40543	1.245	0.09310	N	1	D;D	0.76494	0.999;0.991	P;P	0.53146	0.719;0.462	T	0.12734	-1.0536	10	0.39692	T	0.17	-24.4077	7.6874	0.28548	0.0874:0.0:0.7496:0.1631	.	501;501	E9PPF2;P29597	.;TYK2_HUMAN	W	316;501;501;248;501	ENSP00000433203:R316W;ENSP00000431885:R501W;ENSP00000264818:R501W;ENSP00000432728:R501W	ENSP00000264818:R501W	R	-	1	2	TYK2	10334108	0.007000	0.16637	0.003000	0.11579	0.002000	0.02628	1.071000	0.30666	0.511000	0.28236	-0.310000	0.09108	CGG		0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			A	10473108	G	A	10473108	3	1	85	1	0	0	0	0	1	0	0	0	16807	1086	38	1	2122	1	TYK2	19	10473108	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		10473108	48655875	41	5757											
CDH4	1002	broad.mit.edu	37	chr20	60504710	60504710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcctgtacctggaggcCgggatgtatgacgtccccat	7	9	12	13	3	0	1	0	1	0	0	2	3	2	3	5	3	1	3	5	3	2	2	rs201703403		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr20:60504710C>T	ENST00000360469.5	+	13	2137	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	CDH4_ENST00000543233.1_Silent_p.A609A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A683A(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTGGAGGCCGGGATGTATG	0.547																																						uc002ybn.2																			2	Substitution - coding silent(2)	p.A683A(4)	breast(2)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2047-2049)gcC>gcT		Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.							140	105	117					20																	60504710		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504710C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2049C>T	20.37:g.60504710C>T						CDH4_uc002ybr.2_Silent_p.A646A|CDH4_uc002ybp.2_Silent_p.A609A	p.A683A	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	2137	+			683			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2049C>T	CCDS13488.1																																																																																				0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60504710	C	T	60504710	2	4	85	1	0	0	0	0	0	0	0	1	3112	639	23	2		2	CDH4	20	60504710	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08		60504710	2520810	42	5758											
C21orf29	54084	broad.mit.edu	37	chr21	45987844	45987845	+	Missense_Mutation	DNP	CC	CC	AG																															tcctgatcccgcttgtggcgCcatcagaagggaccacttcc																										TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:45987844_45987845CC>AG	ENST00000323084.4	-	2	192_193	c.127_128GG>CT	c.(127-129)GGc>CTc	p.G43L	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	43					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTTGTGGCGCCATCAGAAGGG	0.604																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(127-129)ggc>CTc		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.																																				SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987844_45987845CC>AG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.127_128delinsAG	21.37:g.45987844_45987845delinsAG	ENSP00000321987:p.Gly43Leu					TSPEAR_uc010gpv.1_5'UTR	p.G43L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			1	193_194	-			43						Missense_Mutation	DNP	ENST00000323084.4	37	c.127_128GG>CT	CCDS13712.1																																																																																				0.604	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		AG	45987845	CC	AG	45987844	3	1	85	1	0	0	0	0	1	0	0	0	2124	739	26	5	1925	5	C21orf29	21	45987844	Missense_Mutation	DNP	CC	TCGA-06-2570-01A-01D-1495-08		45987844	2142051	43	5759											
KRTAP12-4	386684	broad.mit.edu	37	chr21	46074201	46074201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccacctgctcagcagcCagtgggggtgctccaggtga	7	6	16	12	0	1	1	1	1	0	0	2	2	2	1	4	4	4	3	4	4	0	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:46074201C>T	ENST00000391618.1	-	1	375	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	111						keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						GCTCAGCAGCCAGTGGGGGTG	0.622																																						uc002zfs.1																			0				lung(4)|ovary(1)|prostate(1)	6						c.(331-333)Ggc>Agc		Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.							26	32	30					21																	46074201		2004	4174	6178	SO:0001583	missense	386684					keratin filament		g.chr21:46074201C>T	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"Keratin associated proteins"	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.331G>A	21.37:g.46074201C>T	ENSP00000375476:p.Gly111Ser					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.G111S	NM_198698	NP_941971	P60329	KR124_HUMAN			0	376	-			111					Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	c.331G>A	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	c	2.657	-0.280614	0.05642	.	.	ENSG00000212933	ENST00000391618	T	0.01767	4.65	3.81	2.64	0.31445	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47749	-0.9093	9	0.62326	D	0.03	.	7.4261	0.27100	0.7769:0.2231:0.0:0.0	.	111	P60329	KR124_HUMAN	S	111	ENSP00000375476:G111S	ENSP00000375476:G111S	G	-	1	0	KRTAP12-4	44898629	0.000000	0.05858	0.116000	0.21606	0.008000	0.06430	-0.212000	0.09319	0.631000	0.30412	-0.541000	0.04245	GGC		0.622	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1			T	46074201	C	T	46074201	3	4	85	1	0	0	0	0	1	0	0	0	8521	594	21	3	11	3	KRTAP12-4	21	46074201	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	86357	46074201	2055694	44	5760											
CDKL5	6792	broad.mit.edu	37	chrX	18597977	18597977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaatttttagaatatgctcGaattgctggaagaaatgcca	14	14	8	5	1	0	2	0	0	0	2	1	4	0	3	1	1	3	2	1	1	7	6			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:18597977G>A	ENST00000379989.3	+	7	577	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CDKL5_ENST00000379996.3_Missense_Mutation_p.E98K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATATGCTCGAATTGCTGGA	0.328																																						uc004cym.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(292-294)Gaa>Aaa		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							85	83	84					X																	18597977		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18597977G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.292G>A	X.37:g.18597977G>A	ENSP00000369325:p.Glu98Lys					CDKL5_uc004cyn.3_Missense_Mutation_p.E98K|CDKL5_uc022btn.1_Missense_Mutation_p.E89K	p.E98K	NM_003159	NP_003150	O76039	CDKL5_HUMAN			5	545	+	Hepatocellular(33;0.183)		98			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.292G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619320	0.87460	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.43688	0.94;0.94	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	N	0.17800	0.525	0.49389	D	0.999782	D	0.89917	1.0	D	0.68483	0.958	T	0.46162	-0.9211	10	0.32370	T	0.25	-24.1386	19.3864	0.94557	0.0:0.0:1.0:0.0	.	98	O76039	CDKL5_HUMAN	K	98	ENSP00000369332:E98K;ENSP00000369325:E98K	ENSP00000369325:E98K	E	+	1	0	CDKL5	18507898	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.876000	0.87215	2.532000	0.85374	0.594000	0.82650	GAA		0.328	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		A	18597977	G	A	18597977	3	1	85	1	0	0	0	0	1	0	0	0	3157	1059	37	2	310	2	CDKL5	23	18597977	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		18597977	136672583	45	5761											
ZNF81	347344	broad.mit.edu	37	chrX	47775519	47775519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgcataagagaattCatacaggagagaaaccctat	17	8	8	8	0	1	3	1	0	0	3	2	6	2	4	2	1	3	1	2	1	5	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:47775519C>A	ENST00000376954.1	+	6	1842	c.1474C>A	c.(1474-1476)Cat>Aat	p.H492N	ZNF81_ENST00000338637.7_Missense_Mutation_p.H492N			P51508	ZNF81_HUMAN	zinc finger protein 81	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAAGAGAATTCATACAGGAGA	0.413																																						uc022bvq.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1474-1476)Cat>Aat		Homo sapiens zinc finger protein 81 (ZNF81), mRNA.							43	43	43					X																	47775519		2201	4296	6497	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775519C>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1474C>A	X.37:g.47775519C>A	ENSP00000366153:p.His492Asn					ZNF81_uc010nhy.2_Missense_Mutation_p.H492N	p.H492N	NM_007137	NP_009068	P51508	ZNF81_HUMAN			4	1723	+		all_lung(315;0.0973)	492					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1474C>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301263	0.60195	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.67345	-0.26;-0.26	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000433	D	0.84538	0.5494	M	0.92880	3.355	0.33544	D	0.595198	D	0.89917	1.0	D	0.91635	0.999	D	0.90777	0.4676	10	0.87932	D	0	.	13.0399	0.58893	0.0:1.0:0.0:0.0	.	492	P51508	ZNF81_HUMAN	N	492	ENSP00000366153:H492N;ENSP00000341151:H492N	ENSP00000341151:H492N	H	+	1	0	ZNF81	47660463	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.248000	0.78268	2.237000	0.73441	0.544000	0.68410	CAT		0.413	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		A	47775519	C	A	47775519	3	1	85	1	0	0	0	0	1	0	0	0	18171	826	29	5	1488	5	ZNF81	23	47775519	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	29177542	47775519	107495041	46	5762											
ATRX	546	broad.mit.edu	37	chrX	76909633	76909636	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															tgaaccttaatacgtcgcctTttctttttctgtttatagct																										TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:76909633_76909636delTTTC	ENST00000373344.5	-	14	4483_4486	c.4269_4272delGAAA	c.(4267-4272)aagaaafs	p.KK1423fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK1385fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1423					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TACGTCGCCTTTTCTTTTTCTGTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4267-4272)aagaaafs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909633_76909636delTTTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4269_4272delGAAA	X.37:g.76909633_76909636delTTTC	ENSP00000362441:p.Lys1423fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.K1385fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1208fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1355fs	p.K1423fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			13	4501_4504	-			1423					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4269_4272delGAAA	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76909636	TTTC	-	76909633	7	5	85	1	0	1	0	1	0	0	0	0	1208	1838	64	0	3294	0	ATRX	23	76909633	Frame_Shift_Del	DEL	TTTC	TCGA-06-2570-01A-01D-1495-08	29134114	76909633	78360927	47	5763											
TRIM62	55223	broad.mit.edu	37	chr1	33625475	33625475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctagcatggccttctggCgttcacgcagcagccggtgc	5	9	12	15	3	3	0	1	0	2	0	3	0	3	0	3	3	4	4	3	3	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:33625475C>T	ENST00000291416.5	-	3	808	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TRIM62_ENST00000543586.1_Missense_Mutation_p.R71H|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	192					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCCTTCTGGCGTTCACGCAG	0.652																																						uc001bxb.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(574-576)cGc>cAc		Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.							43	46	45					1																	33625475		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33625475C>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.575G>A	1.37:g.33625475C>T	ENSP00000291416:p.Arg192His						p.R192H	NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN			2	1213	-		Myeloproliferative disorder(586;0.0393)	192					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.575G>A	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175117	0.78564	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.44083	0.93;0.93	4.5	3.59	0.41128	.	0.069094	0.64402	D	0.000018	T	0.40347	0.1113	L	0.27053	0.805	0.58432	D	0.999999	D	0.67145	0.996	P	0.53185	0.72	T	0.35549	-0.9784	10	0.72032	D	0.01	.	11.0216	0.47722	0.0:0.9053:0.0:0.0947	.	192	Q9BVG3	TRI62_HUMAN	H	192;192;192;71	ENSP00000291416:R192H;ENSP00000441173:R71H	ENSP00000291416:R192H	R	-	2	0	TRIM62	33398062	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	6.893000	0.75649	1.203000	0.43233	-0.140000	0.14226	CGC		0.652	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		T	33625475	C	T	33625475	3	4	86	1	0	0	0	0	1	0	0	0	16534	768	27	1	864	1	TRIM62	1	33625475	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		33625475	215625146	1	5764											
TIE1	7075	broad.mit.edu	37	chr1	43779028	43779028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgcgctacctcttccGcatgcgggccagcattcagg	7	7	11	16	4	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:43779028G>A	ENST00000372476.3	+	13	2229	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	TIE1_ENST00000433781.2_Missense_Mutation_p.R362H|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	717	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACCTCTTCCGCATGCGGGCC	0.657																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2149-2151)cGc>cAc		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							125	109	114					1																	43779028		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779028G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2150G>A	1.37:g.43779028G>A	ENSP00000361554:p.Arg717His					TIE1_uc010okd.2_Missense_Mutation_p.R717H|TIE1_uc010oke.2_Missense_Mutation_p.R672H|TIE1_uc009vwq.3_Missense_Mutation_p.R673H|TIE1_uc010okf.1_Missense_Mutation_p.R362H|TIE1_uc010okg.2_Missense_Mutation_p.R362H	p.R717H	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	2327	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	717			Fibronectin type-III 3.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2150G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943188	0.92526	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.60920	0.15;0.15	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001171	T	0.73329	0.3573	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.999;1.0;0.998;0.999	T	0.66551	-0.5895	10	0.18276	T	0.48	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	362;672;717;362;717	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	H	717;120;362	ENSP00000361554:R717H;ENSP00000411728:R362H	ENSP00000361553:R120H	R	+	2	0	TIE1	43551615	1.000000	0.71417	0.994000	0.49952	0.523000	0.34469	9.578000	0.98200	2.618000	0.88619	0.655000	0.94253	CGC		0.657	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		A	43779028	G	A	43779028	3	1	86	1	0	0	0	0	1	0	0	0	15890	1087	38	1	2200	1	TIE1	1	43779028	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	10153553	43779028	205471593	2	5765											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173500	86173504	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-																															tgttttatctccaagttatcCttctcttccttcacttctga																								rs574654163		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:86173500_86173504delCTTCT	ENST00000370574.3	-	1	597_601	c.464_468delAGAAG	c.(463-468)gagaagfs	p.EK155fs	ZNHIT6_ENST00000431532.2_Frame_Shift_Del_p.EK116fs			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	155	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCAAGTTATCCTTCTCTTCCTTCAC	0.41																																						uc001dlh.3																			0		p.E155K(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(463-468)gagaagfs		Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173500_86173504delCTTCT	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.464_468delAGAAG	1.37:g.86173500_86173504delCTTCT	ENSP00000359606:p.Glu155fs					ZNHIT6_uc010osc.2_Frame_Shift_Del_p.E116fs	p.E155fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			0	613_617	-			155			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Frame_Shift_Del	DEL	ENST00000370574.3	37	c.464_468delAGAAG	CCDS707.1																																																																																				0.41	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		-	86173504	CTTCT	-	86173500	7	5	86	1	0	1	0	1	0	0	0	0	18206	680	24	0	984	0	ZNHIT6	1	86173500	Frame_Shift_Del	DEL	CTTCT	TCGA-06-5408-01A-01D-1696-08	42394472	86173500	163077121	3	5766											
FLG2	388698	broad.mit.edu	37	chr1	152325024	152325024	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttggccatgagtgtgTcctgaatgtgtatgtgagac	7	13	14	7	0	0	3	0	3	0	1	1	4	1	3	2	2	0	2	2	2	2	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:152325024T>C	ENST00000388718.5	-	3	5310	c.5238A>G	c.(5236-5238)ggA>ggG	p.G1746G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1746					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGTGTGTCCTGAATGTG	0.502																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5236-5238)ggA>ggG		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							418	368	385					1																	152325024		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325024T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5238A>G	1.37:g.152325024T>C						AK056431_uc001ezv.3_Intron	p.G1746G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5311	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1746					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5238A>G	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152325024	T	C	152325024	2	2	86	1	0	0	0	0	0	0	0	1	5923	1654	58	4		4	FLG2	1	152325024	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08	66151524	152325024	96925597	4	5767											
F5	2153	broad.mit.edu	37	chr1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtgttataattgccGttatcttcttgatcttgagt	7	18	8	8	1	3	2	0	2	3	0	3	2	3	2	2	0	2	2	2	0	3	7	rs199601865		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169484809G>A	ENST00000367797.3	-	24	6602	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M	F5_ENST00000367796.3_Missense_Mutation_p.T2139M	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2134	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6400-6402)aCg>aTg		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)	G	MET/THR	0,4406		0,0,2203	139	131	134		6401	5.6	1	1		134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	F5	NM_000130.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2134/2225	169484809	1,13005	2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169484809G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6401C>T	1.37:g.169484809G>A	ENSP00000356771:p.Thr2134Met						p.T2134M	NM_000130	NP_000121	P12259	FA5_HUMAN			23	6546	-	all_hematologic(923;0.208)		2134			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6401C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237075	0.58886	0.0	1.16E-4	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98531	-4.98;-4.98	5.61	5.61	0.85477	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.86502	2.82	0.46654	D	0.999149	D	0.89917	1.0	D	0.97110	1.0	D	0.99824	1.1049	9	0.87932	D	0	-20.207	19.223	0.93806	0.0:0.0:1.0:0.0	.	2134	P12259	FA5_HUMAN	M	2134;2139	ENSP00000356771:T2134M;ENSP00000356770:T2139M	ENSP00000356770:T2139M	T	-	2	0	F5	167751433	1.000000	0.71417	0.965000	0.40720	0.256000	0.26092	6.240000	0.72363	2.635000	0.89317	0.467000	0.42956	ACG		0.388	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169484809	G	A	169484809	3	1	86	1	0	0	0	0	1	0	0	0	5348	1145	40	1	281	1	F5	1	169484809	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	17159785	169484809	79765812	5	5768											
SELE	6401	broad.mit.edu	37	chr1	169698774	169698774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttttggaaacattccacGaacccattggctggatttgt	9	13	11	8	1	0	0	0	0	0	0	1	3	1	2	2	4	2	2	2	4	2	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169698774G>A	ENST00000333360.7	-	6	895	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SELE_ENST00000367775.1_Silent_p.F190F|SELE_ENST00000367782.4_Silent_p.F252F|SELE_ENST00000367779.4_Silent_p.F252F|SELE_ENST00000367774.1_Silent_p.F252F|SELE_ENST00000367781.4_Silent_p.F252F|SELE_ENST00000367780.4_Silent_p.F190F|SELE_ENST00000367777.1_Silent_p.F252F|SELE_ENST00000367776.1_Silent_p.F252F|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	252	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.F252F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACATTCCACGAACCCATTGG	0.428																																						uc001ggm.4																			1	Substitution - coding silent(1)	p.F252F(2)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(754-756)ttC>ttT		Homo sapiens selectin E (SELE), mRNA.							118	112	114					1																	169698774		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698774G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.756C>T	1.37:g.169698774G>A						C1orf112_uc001ggj.3_Intron	p.F252F	NM_000450	NP_000441	P16581	LYAM2_HUMAN			5	913	-	all_hematologic(923;0.208)		252			Sushi 2.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.756C>T	CCDS1283.1																																																																																				0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169698774	G	A	169698774	2	1	86	1	0	0	0	0	0	0	0	1	14013	1049	37	2		2	SELE	1	169698774	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	213965	169698774	79551847	6	5769											
CAD	790	broad.mit.edu	37	chr2	27459352	27459352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctgacttctccgtgccCctaatcatcgatatcaagtg	8	11	8	14	3	3	1	2	1	1	0	5	2	3	1	4	0	1	1	4	0	3	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:27459352C>T	ENST00000403525.1	+	25	4230	c.4086C>T	c.(4084-4086)ccC>ccT	p.P1362P	CAD_ENST00000264705.4_Silent_p.P1425P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCGTGCCCCTAATCATCG	0.557																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4273-4275)ccC>ccT		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						61	62	61					2																	27459352		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27459352C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4086C>T	2.37:g.27459352C>T						CAD_uc010eyw.3_Silent_p.P1362P	p.P1425P	NM_004341	NP_004332	P27708	PYR1_HUMAN			25	4437	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1425			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.4275C>T		.	.	.	.	.	.	.	.	.	.	C	9.738	1.164123	0.21538	.	.	ENSG00000084774	ENST00000458503	D	0.84873	-1.91	5.03	1.91	0.25777	.	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.83194	-0.0082	7	0.87932	D	0	1.0952	5.335	0.15953	0.2833:0.5465:0.0:0.1703	.	.	.	.	L	70	ENSP00000414742:P70L	ENSP00000414742:P70L	P	+	2	0	CAD	27312856	0.868000	0.29978	1.000000	0.80357	0.910000	0.53928	-0.069000	0.11542	0.566000	0.29273	0.561000	0.74099	CCC		0.557	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27459352	C	T	27459352	2	4	86	1	0	0	0	0	0	0	0	1	2565	610	22	3		3	CAD	2	27459352	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08		27459352	215740021	7	5770											
STRN	6801	broad.mit.edu	37	chr2	37078198	37078198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgagcagtgatgctgatCggaagagtaggatgactgat	12	10	14	5	1	1	6	1	5	0	1	2	8	1	8	0	2	2	3	0	2	2	1	rs373121939		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:37078198C>T	ENST00000263918.4	-	16	2039	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	STRN_ENST00000379213.2_Silent_p.P628P	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	677				P -> S (in Ref. 1; CAA11560). {ECO:0000305}.	dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGATGCTGATCGGAAGAGTAG	0.303																																						uc002rpn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(2029-2031)ccG>ccA		Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.		C		0,4406		0,0,2203	98	96	97		2031	-12.1	0	2		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STRN	NM_003162.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		677/781	37078198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37078198C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2031G>A	2.37:g.37078198C>T						STRN_uc010ezx.3_Silent_p.P640P	p.P677P	NM_003162	NP_003153	O43815	STRN_HUMAN			15	2040	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	677	P -> S (in Ref. 1; CAA11560).				Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.2031G>A	CCDS1784.1																																																																																				0.303	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			T	37078198	C	T	37078198	2	4	86	1	0	0	0	0	0	0	0	1	15328	871	31	2		2	STRN	2	37078198	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	9618846	37078198	206121175	8	5771											
XIRP2	129446	broad.mit.edu	37	chr2	167760222	167760222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagttcgaagccggaagAgaaggattctgtggacaaga	13	7	16	5	2	1	2	0	0	1	2	2	8	1	6	1	4	1	1	1	4	4	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:167760222A>G	ENST00000409728.1	+	2	319	c.230A>G	c.(229-231)gAg>gGg	p.E77G	XIRP2_ENST00000409756.2_Missense_Mutation_p.E77G|XIRP2_ENST00000420519.1_Missense_Mutation_p.E77G|XIRP2_ENST00000409043.1_Missense_Mutation_p.E77G|XIRP2_ENST00000295237.9_Missense_Mutation_p.E77G|XIRP2_ENST00000409195.1_Missense_Mutation_p.E77G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCGGAAGAGAAGGATTCT	0.522																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(229-231)gAg>gGg		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							90	89	89					2																	167760222		1966	4136	6102	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760222A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.230A>G	2.37:g.167760222A>G	ENSP00000386619:p.Glu77Gly					XIRP2_uc010fpn.3_Missense_Mutation_p.E77G|XIRP2_uc010fpo.3_Missense_Mutation_p.E77G	p.E77G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	319	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.230A>G	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	A	3.267	-0.149954	0.06585	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.79352	-1.25;-1.26;4.09;-1.25;-1.26;4.09	4.79	-2.29	0.06805	.	.	.	.	.	T	0.56906	0.2017	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	8	0.27082	T	0.32	0.007	3.5969	0.08009	0.4741:0.0:0.262:0.2639	.	77;77	A4UGR9-4;A4UGR9-6	.;.	G	77	ENSP00000386454:E77G;ENSP00000386619:E77G;ENSP00000386840:E77G;ENSP00000386724:E77G;ENSP00000415541:E77G;ENSP00000295237:E77G	ENSP00000295237:E77G	E	+	2	0	XIRP2	167468468	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.538000	0.23160	-0.287000	0.09064	-1.139000	0.01908	GAG		0.522	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		G	167760222	A	G	167760222	3	3	86	1	0	0	0	0	1	0	0	0	17427	304	11	4	232	4	XIRP2	2	167760222	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	130682024	167760222	75439151	9	5772											
TRAK2	66008	broad.mit.edu	37	chr2	202252532	202252532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtgcagagagaggcaagGctctctgtcggggtgacaca	9	7	17	8	1	1	3	0	1	1	2	3	4	1	3	0	5	1	3	0	5	1	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:202252532G>A	ENST00000332624.3	-	13	2018	c.1590C>T	c.(1588-1590)agC>agT	p.S530S		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	530					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCAAGGCTCTCTGTCG	0.512																																						uc002uyb.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1588-1590)agC>agT		Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.							107	103	104					2																	202252532		2203	4300	6503	SO:0001819	synonymous_variant	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202252532G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1590C>T	2.37:g.202252532G>A							p.S530S	NM_015049	NP_055864	O60296	TRAK2_HUMAN			12	2036	-			530	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	ENST00000332624.3	37	c.1590C>T	CCDS2347.1																																																																																				0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		A	202252532	G	A	202252532	2	1	86	1	0	0	0	0	0	0	0	1	16447	1194	42	3		3	TRAK2	2	202252532	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	34492310	202252532	40946841	10	5773											
CXCR2	3579	broad.mit.edu	37	chr2	218999840	218999840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgcccatctgggccGcctccaaggtgaatggctgg	6	9	13	13	1	1	2	0	2	1	0	2	2	2	2	5	4	1	1	5	4	2	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:218999840G>A	ENST00000318507.2	+	3	743	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	106					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCTGGGCCGCCTCCAAGGT	0.552																																						uc002vgz.2																			0		p.A105A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(316-318)Gcc>Acc		Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.							97	96	96					2																	218999840		2203	4298	6501	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999840G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.316G>A	2.37:g.218999840G>A	ENSP00000319635:p.Ala106Thr					CXCR2_uc002vha.2_Missense_Mutation_p.A106T|CXCR2_uc002vhb.2_Missense_Mutation_p.A106T|CXCR2_uc021vwp.1_Missense_Mutation_p.A106T	p.A106T	NM_001168298	NP_001548	P25025	CXCR2_HUMAN			3	526	+			106					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.316G>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778413	0.31502	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.06	0.0211	0.14127	GPCR, rhodopsin-like superfamily (1);	0.793696	0.11773	N	0.530932	T	0.57902	0.2085	L	0.42581	1.335	0.09310	N	0.999999	B	0.32188	0.359	B	0.30716	0.119	T	0.38457	-0.9660	10	0.22706	T	0.39	.	9.6818	0.40074	0.3662:0.0:0.6338:0.0	.	106	P25025	CXCR2_HUMAN	T	106	ENSP00000413686:A106T;ENSP00000392348:A106T;ENSP00000319635:A106T;ENSP00000415148:A106T;ENSP00000392698:A106T	ENSP00000319635:A106T	A	+	1	0	CXCR2	218708085	0.000000	0.05858	0.009000	0.14445	0.865000	0.49528	0.374000	0.20501	-0.210000	0.10140	0.456000	0.33151	GCC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		A	218999840	G	A	218999840	3	1	86	1	0	0	0	0	1	0	0	0	4091	1087	38	1	318	1	CXCR2	2	218999840	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	16747308	218999840	24199533	11	5774											
SCN10A	6336	broad.mit.edu	37	chr3	38770174	38770174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagagtggaagaagtcGtgcatgtgccagcggggcca	12	5	17	7	2	0	2	0	0	0	2	1	4	0	4	2	4	3	1	2	4	3	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:38770174G>A	ENST00000449082.2	-	15	2498	c.2499C>T	c.(2497-2499)caC>caT	p.H833H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	833					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGAAGAAGTCGTGCATGTGCC	0.512																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2497-2499)caC>caT		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						118	112	114					3																	38770174		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770174G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2499C>T	3.37:g.38770174G>A							p.H833H	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2499	-			833					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2499C>T	CCDS33736.1																																																																																				0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38770174	G	A	38770174	2	1	86	1	0	0	0	0	0	0	0	1	13912	1136	40	1		1	SCN10A	3	38770174	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08		38770174	159252256	12	5775											
CCR1	1230	broad.mit.edu	37	chr3	46245393	46245393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcaaggcaaacacggCgtggacgatggccaggtacc	10	4	14	13	4	0	0	0	0	0	0	0	2	0	1	3	5	3	3	3	5	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:46245393C>T	ENST00000296140.3	-	2	537	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	138					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAAACACGGCGTGGACGATG	0.512																																						uc003cph.1																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(412-414)Gcc>Acc		Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.							80	75	77					3																	46245393		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245393C>T		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.412G>A	3.37:g.46245393C>T	ENSP00000296140:p.Ala138Thr					CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.A138T	p.A138T	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	483	-			138					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.412G>A	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280409	0.59758	.	.	ENSG00000163823	ENST00000296140	T	0.38240	1.15	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.67373	0.2886	M	0.88450	2.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.75465	-0.3308	10	0.87932	D	0	.	18.3724	0.90411	0.0:1.0:0.0:0.0	.	138	P32246	CCR1_HUMAN	T	138	ENSP00000296140:A138T	ENSP00000296140:A138T	A	-	1	0	CCR1	46220397	1.000000	0.71417	0.176000	0.23000	0.084000	0.17831	5.944000	0.70219	2.412000	0.81896	0.655000	0.94253	GCC		0.512	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		T	46245393	C	T	46245393	3	4	86	1	0	0	0	0	1	0	0	0	2939	768	27	1	659	1	CCR1	3	46245393	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	7475219	46245393	151777037	13	5776											
PRR23B	389151	broad.mit.edu	37	chr3	138739096	138739096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagaattccagctcgacGacgacgtcctccctgacagc	9	6	10	16	5	0	2	0	1	0	1	4	5	3	2	3	0	2	2	3	0	1	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:138739096G>A	ENST00000329447.5	-	1	672	c.408C>T	c.(406-408)gtC>gtT	p.V136V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCTCGACGACGACGTCCT	0.652																																						uc003esy.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(406-408)gtC>gtT		Homo sapiens proline rich 23B (PRR23B), mRNA.							56	60	58					3																	138739096		2203	4300	6503	SO:0001819	synonymous_variant	389151							g.chr3:138739096G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.408C>T	3.37:g.138739096G>A							p.V136V	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			0	673	-			136					B2RNV9	Silent	SNP	ENST00000329447.5	37	c.408C>T	CCDS33868.1																																																																																				0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		A	138739096	G	A	138739096	2	1	86	1	0	0	0	0	0	0	0	1	12595	1045	37	2		2	PRR23B	3	138739096	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	92493703	138739096	59283334	14	5777											
MFSD7	84179	broad.mit.edu	37	chr4	680063	680063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgcgtagcacactcccgGcaaagttcagccacgcaccc	10	5	8	18	3	1	0	1	0	0	0	2	0	2	0	4	1	3	5	4	1	2	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:680063G>A	ENST00000404286.2	-	3	338	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MFSD7_ENST00000322224.4_Missense_Mutation_p.A108V|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.A44V|MFSD7_ENST00000515118.1_Intron	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	108					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACACTCCCGGCAAAGTTCAG	0.657																																						uc003gay.3																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(322-324)gCc>gTc		Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.							57	57	57					4																	680063		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680063G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.323C>T	4.37:g.680063G>A	ENSP00000384616:p.Ala108Val					MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.A108V|MFSD7_uc003gaz.3_Intron	p.A108V	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			2	380	-			108					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.323C>T		.	.	.	.	.	.	.	.	.	.	G	3.929	-0.016587	0.07681	.	.	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000503156;ENST00000507165	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.63	0.701	0.18104	Major facilitator superfamily domain, general substrate transporter (1);	1.417430	0.04373	N	0.359436	T	0.35158	0.0922	L	0.27053	0.805	0.09310	N	1	B;B;B	0.15141	0.003;0.009;0.012	B;B;B	0.17098	0.01;0.017;0.007	T	0.13388	-1.0511	10	0.09590	T	0.72	-0.0372	4.2352	0.10621	0.3049:0.175:0.5201:0.0	.	44;108;108	D6RIZ6;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	V	108;108;44;44	ENSP00000320234:A108V;ENSP00000384616:A108V;ENSP00000425753:A44V;ENSP00000424556:A44V	ENSP00000320234:A108V	A	-	2	0	MFSD7	670063	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.038000	0.13862	0.179000	0.19938	0.561000	0.74099	GCC		0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		A	680063	G	A	680063	3	1	86	1	0	0	0	0	1	0	0	0	9537	1203	42	3	1388	3	MFSD7	4	680063	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		680063	190474213	15	5778											
LPHN3	23284	broad.mit.edu	37	chr4	62598628	62598628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactgataccctgactgAgtattcatccaaggatgact	13	10	8	10	0	1	5	1	4	0	1	2	6	2	6	2	1	2	1	2	1	4	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:62598628A>G	ENST00000514591.1	+	7	880	c.551A>G	c.(550-552)gAg>gGg	p.E184G	LPHN3_ENST00000545650.1_Missense_Mutation_p.E184G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E184G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E252G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E184G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E252G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E252G|LPHN3_ENST00000512091.2_Missense_Mutation_p.E184G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E184G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E252G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E252G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E184G|LPHN3_ENST00000506746.1_Missense_Mutation_p.E252G|LPHN3_ENST00000511324.1_Missense_Mutation_p.E252G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E184G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	184	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCCTGACTGAGTATTCATCC	0.493																																						uc010ihh.3																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(550-552)gAg>gGg		Homo sapiens latrophilin 3 (LPHN3), mRNA.							74	70	71					4																	62598628		1913	4122	6035	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598628A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.551A>G	4.37:g.62598628A>G	ENSP00000422533:p.Glu184Gly					LPHN3_uc003hcq.4_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	p.E184G	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			4	724	+			184			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.551A>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709654	0.68730	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.86178	2.8	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.83275	0.996;0.996;0.979	D	0.96163	0.9117	10	0.87932	D	0	.	14.5987	0.68424	1.0:0.0:0.0:0.0	.	184;252;184	E9PE04;E7EN28;Q9HAR2-2	.;.;.	G	184;184;252;252;184;184;184;184;184;252;252;252;184;184;184;252;252;184	ENSP00000423388:E184G;ENSP00000422533:E184G;ENSP00000423787:E252G;ENSP00000425033:E252G;ENSP00000424120:E184G;ENSP00000439831:E184G;ENSP00000421476:E252G;ENSP00000424030:E252G;ENSP00000421372:E252G;ENSP00000425201:E184G;ENSP00000423434:E184G;ENSP00000421627:E184G;ENSP00000420931:E252G;ENSP00000425884:E252G;ENSP00000424258:E184G	ENSP00000280009:E184G	E	+	2	0	LPHN3	62281223	1.000000	0.71417	0.985000	0.45067	0.936000	0.57629	9.339000	0.96797	2.058000	0.61347	0.455000	0.32223	GAG		0.493	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			G	62598628	A	G	62598628	3	3	86	1	0	0	0	0	1	0	0	0	8917	304	11	4	569	4	LPHN3	4	62598628	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	61918565	62598628	128555648	16	5779											
NHEDC2	133308	broad.mit.edu	37	chr4	103947532	103947532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctcttttcacctctaaaCttgcacagaagtctctcctt	8	16	3	14	0	5	1	1	0	4	1	8	1	6	1	2	0	2	1	2	0	3	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:103947532C>G	ENST00000394785.3	-	12	2240	c.1609G>C	c.(1609-1611)Gtt>Ctt	p.V537L	SLC9B2_ENST00000362026.3_Missense_Mutation_p.V537L|SLC9B2_ENST00000503103.1_3'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.V480L|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	537					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CACCTCTAAACTTGCACAGAA	0.353																																						uc003hwx.4																			0											c.(1609-1611)Gtt>Ctt		Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.							94	97	96					4																	103947532		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947532C>G	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1609G>C	4.37:g.103947532C>G	ENSP00000378265:p.Val537Leu					SLC9B2_uc010iln.2_Intron|SLC9B2_uc003hwy.3_Missense_Mutation_p.V537L|SLC9B2_uc011cew.2_Missense_Mutation_p.V480L|SLC9B2_uc011cex.1_3'UTR	p.V537L	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN			11	2481	-			537					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1609G>C	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442223	0.25987	.	.	ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230	T;T;T	0.22743	1.94;1.94;1.97	5.28	-1.89	0.07689	.	1.675060	0.03863	N	0.274337	T	0.11922	0.0290	N	0.22421	0.69	0.20074	N	0.999935	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22626	-1.0211	10	0.33141	T	0.24	.	0.8487	0.01167	0.2424:0.3385:0.1199:0.2992	.	480;537	E9PE63;Q86UD5	.;SL9B2_HUMAN	L	537;537;480	ENSP00000354574:V537L;ENSP00000378265:V537L;ENSP00000422477:V480L	ENSP00000354574:V537L	V	-	1	0	SLC9B2	104166981	0.000000	0.05858	0.019000	0.16419	0.944000	0.59088	-0.604000	0.05667	-0.326000	0.08564	0.585000	0.79938	GTT		0.353	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		G	103947532	C	G	103947532	3	3	86	1	0	0	0	0	1	0	0	0	10401	565	20	5	8	5	NHEDC2	4	103947532	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	41348904	103947532	87206744	17	5780											
CARD6	84674	broad.mit.edu	37	chr5	40852866	40852866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacacttctcagccctGcccagttgaaattacacaaa	14	9	4	14	0	2	1	2	1	1	0	3	1	2	1	2	0	4	1	2	0	4	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:40852866G>A	ENST00000254691.5	+	3	1631	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	478					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTCAGCCCTGCCCAGTTGAA	0.433																																						uc003jmg.3																			0		p.P477H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1432-1434)Gcc>Acc		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							74	74	74					5																	40852866		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852866G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1432G>A	5.37:g.40852866G>A	ENSP00000254691:p.Ala478Thr						p.A478T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	1507	+			478					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1432G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493289	0.12702	.	.	ENSG00000132357	ENST00000254691	T	0.11930	2.73	5.48	-3.89	0.04193	.	1.182510	0.05994	N	0.646502	T	0.08802	0.0218	L	0.40543	1.245	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.39165	-0.9627	10	0.21540	T	0.41	-0.0861	2.0642	0.03599	0.3647:0.2141:0.3158:0.1055	.	478	Q9BX69	CARD6_HUMAN	T	478	ENSP00000254691:A478T	ENSP00000254691:A478T	A	+	1	0	CARD6	40888623	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.548000	0.06048	-0.612000	0.05701	-0.142000	0.14014	GCC		0.433	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40852866	G	A	40852866	3	1	86	1	0	0	0	0	1	0	0	0	2650	1319	46	3	1442	3	CARD6	5	40852866	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		40852866	140062394	18	5781											
ATOX1	475	broad.mit.edu	37	chr5	151125916	151125916	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtaggaaacagtcttTcctgttttcttcagggttgc	8	14	10	9	0	3	0	1	0	2	0	4	1	4	1	2	3	2	3	2	3	3	6			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:151125916T>C	ENST00000524142.1	-	4	534	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ATOX1_ENST00000313115.6_Silent_p.G59G|ATOX1_ENST00000522314.1_Silent_p.G50G|ATOX1_ENST00000521264.1_Silent_p.G64G|ATOX1_ENST00000522710.1_Silent_p.G59G|ATOX1_ENST00000520382.1_Silent_p.G50G			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	59	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)|copper-dependent protein binding (GO:0032767)|metallochaperone activity (GO:0016530)						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAACAGTCTTTCCTGTTTTCT	0.542																																						uc003luk.3																			0											c.(175-177)ggA>ggG		Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.							113	114	113					5																	151125916		2023	4174	6197	SO:0001819	synonymous_variant	475				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding	g.chr5:151125916T>C	U70660	CCDS47317.1	5q32	2013-05-01	2013-05-01			ENSG00000177556			798	protein-coding gene	gene with protein product		602270	"ATX1 (antioxidant protein 1, yeast) homolog 1", "ATX1 antioxidant protein 1 homolog (yeast)"			9083055	Standard	NM_004045		Approved	HAH1	uc003luk.3	O00244		ENST00000524142.1:c.177A>G	5.37:g.151125916T>C							p.G59G	NM_004045	NP_004036	O00244	ATOX1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	275	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	59			HMA.		A8KAJ8|D3DQI2|Q2M1R6|Q56AP3	Silent	SNP	ENST00000524142.1	37	c.177A>G	CCDS47317.1																																																																																				0.542	ATOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373823.2	NM_004045		C	151125916	T	C	151125916	2	2	86	1	0	0	0	0	0	0	0	1	1115	1770	62	4		4	ATOX1	5	151125916	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08	110273050	151125916	29789344	19	5782											
MBOAT1	154141	broad.mit.edu	37	chr6	20118736	20118736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcttatccactccgcTgaacccaaagccagctgcgt	9	9	6	17	2	1	1	0	1	1	0	3	1	3	1	5	0	4	2	5	0	3	2	rs150163538		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:20118736T>C	ENST00000324607.7	-	9	1107	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	MBOAT1_ENST00000541730.1_Missense_Mutation_p.S166G	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	315					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TCCACTCCGCTGAACCCAAAG	0.393																																						uc003ncx.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(943-945)Agc>Ggc		Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.		T	GLY/SER	0,4406		0,0,2203	122	100	107		943	6.2	1	6	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	MBOAT1	NM_001080480.1	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	315/496	20118736	1,13005	2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20118736T>C	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.943A>G	6.37:g.20118736T>C	ENSP00000324944:p.Ser315Gly					MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	p.S315G	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		8	1148	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		315					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.943A>G	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898948	0.52227	0.0	1.16E-4	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.18810	2.19;2.68	6.17	6.17	0.99709	.	0.414397	0.30473	N	0.009552	T	0.17789	0.0427	M	0.64170	1.965	0.80722	D	1	B;B	0.31125	0.03;0.309	B;B	0.35182	0.02;0.197	T	0.01617	-1.1311	10	0.51188	T	0.08	-15.23	16.8222	0.85835	0.0:0.0:0.0:1.0	.	166;315	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	G	166;315	ENSP00000441568:S166G;ENSP00000324944:S315G	ENSP00000324944:S315G	S	-	1	0	MBOAT1	20226715	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.507000	0.53371	2.371000	0.80710	0.533000	0.62120	AGC		0.393	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			C	20118736	T	C	20118736	3	2	86	1	0	0	0	0	1	0	0	0	9356	1580	55	4	564	4	MBOAT1	6	20118736	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08		20118736	150996331	20	5783											
GRM4	2914	broad.mit.edu	37	chr6	34008523	34008523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcccaattcgctcacGgtctgcaatgaaacaccagg	11	8	8	14	2	2	1	1	1	1	0	4	1	3	1	3	2	3	2	3	2	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:34008523G>A	ENST00000538487.2	-	7	1614	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	GRM4_ENST00000535756.1_Missense_Mutation_p.R258C|GRM4_ENST00000455714.2_Missense_Mutation_p.R251C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R391C|GRM4_ENST00000374177.3_Missense_Mutation_p.R275C|GRM4_ENST00000609222.1_Missense_Mutation_p.R258C|GRM4_ENST00000544773.2_Missense_Mutation_p.R222C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCGCTCACGGTCTGCAATG	0.597																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1171-1173)Cgt>Tgt		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						154	120	131					6																	34008523		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34008523G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1171C>T	6.37:g.34008523G>A	ENSP00000440556:p.Arg391Cys					GRM4_uc011dsn.2_Missense_Mutation_p.R344C|GRM4_uc010jvh.3_Missense_Mutation_p.R391C|GRM4_uc010jvi.3_Missense_Mutation_p.R83C|GRM4_uc003oio.3_Missense_Mutation_p.R83C|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R251C|GRM4_uc003oiq.3_Missense_Mutation_p.R258C|GRM4_uc011dsm.2_Missense_Mutation_p.R222C	p.R391C	NM_000841	NP_000832	Q14833	GRM4_HUMAN			5	1534	-			391					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1171C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663803	0.67700	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.86030	-2.06;-1.63;-2.06;-2.06;-2.06;-2.06;-2.06	4.29	4.29	0.51040	Extracellular ligand-binding receptor (1);	0.144833	0.47852	D	0.000220	D	0.84019	0.5380	L	0.39898	1.24	0.46222	D	0.998939	B;D;D;D;D	0.76494	0.131;0.995;0.998;0.999;0.997	B;P;P;P;P	0.61658	0.105;0.849;0.804;0.828;0.892	D	0.86127	0.1572	10	0.66056	D	0.02	.	12.7744	0.57439	0.0:0.165:0.835:0.0	.	344;222;251;391;258	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	391;275;83;258;222;391;251	ENSP00000363296:R391C;ENSP00000363292:R275C;ENSP00000445533:R83C;ENSP00000437925:R258C;ENSP00000437730:R222C;ENSP00000440556:R391C;ENSP00000398456:R251C	ENSP00000363292:R275C	R	-	1	0	GRM4	34116501	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	3.369000	0.52365	2.205000	0.71048	0.305000	0.20034	CGT		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	34008523	G	A	34008523	3	1	86	1	0	0	0	0	1	0	0	0	6799	1116	39	2	1587	2	GRM4	6	34008523	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	13889787	34008523	137106544	21	5784											
VEGFA	7422	broad.mit.edu	37	chr6	43752359	43752359	+	IGR	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagatctctcaccaggaaAgactgatacagaacgatcga	16	6	8	11	2	2	4	1	1	1	3	4	7	2	5	2	1	2	0	2	1	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:43752359A>T	ENST00000523873.1	+	0	784				VEGFA_ENST00000520948.1_3'UTR|VEGFA_ENST00000425836.2_3'UTR|VEGFA_ENST00000230480.6_3'UTR|VEGFA_ENST00000482630.2_Missense_Mutation_p.K370N|VEGFA_ENST00000523950.1_3'UTR|VEGFA_ENST00000372064.4_3'UTR|VEGFA_ENST00000518824.1_Missense_Mutation_p.K190N|VEGFA_ENST00000372067.3_3'UTR|VEGFA_ENST00000372077.4_3'UTR			P15692	VEGFA_HUMAN	vascular endothelial growth factor A						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	TCACCAGGAAAGACTGATACA	0.527																																						uc003owh.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9								Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						71	73	72					6																	43752359		2203	4300	6503	SO:0001628	intergenic_variant	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43752359A>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745		6.37:g.43752359A>T						VEGFA_uc003owd.3_3'UTR|VEGFA_uc010jyx.3_3'UTR|VEGFA_uc003owf.3_3'UTR|VEGFA_uc003owg.3_3'UTR|VEGFA_uc003owe.3_3'UTR|VEGFA_uc021yzu.1_3'UTR|VEGFA_uc003owj.3_3'UTR|VEGFA_uc003owi.3_Missense_Mutation_p.K370N|VEGFA_uc003owk.3_Non-coding_Transcript		NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		7		+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)							B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37		CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.442906	0.25987	.	.	ENSG00000112715	ENST00000482630;ENST00000518824	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.80722	D	1	P	0.35272	0.493	B	0.31101	0.124	T	0.14200	-1.0481	8	0.41790	T	0.15	.	14.1856	0.65603	1.0:0.0:0.0:0.0	.	190	P15692-8	.	N	370;190	.	ENSP00000421561:K370N	K	+	3	2	VEGFA	43860337	1.000000	0.71417	0.988000	0.46212	0.371000	0.29859	2.910000	0.48766	2.284000	0.76573	0.528000	0.53228	AAA		0.527	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		T	43752359	A	T	43752359	1	4	86	0	1	0	0	0	0	0	0	0	17147	69	3	5		5	VEGFA	6	43752359	IGR	SNP	A	TCGA-06-5408-01A-01D-1696-08	9743836	43752359	127362708	22	5785											
ZNF92	168374	broad.mit.edu	37	chr7	64864755	64864755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagcctttaacaaatcCtcaaattatactaaagagaa	18	9	6	8	0	1	2	1	0	0	2	2	3	2	2	2	1	3	1	2	1	8	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:64864755C>A	ENST00000328747.7	+	4	1927	c.1728C>A	c.(1726-1728)tcC>tcA	p.S576S	ZNF92_ENST00000450302.2_Silent_p.S507S|ZNF92_ENST00000431504.1_Silent_p.S500S|ZNF92_ENST00000357512.2_Silent_p.S544S	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	576					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTAACAAATCCTCAAATTATA	0.348																																						uc003ttz.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(1726-1728)tcC>tcA		Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.							43	48	46					7																	64864755		2199	4295	6494	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864755C>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1728C>A	7.37:g.64864755C>A						ZNF92_uc003tua.3_Silent_p.S507S|ZNF92_uc010kzu.3_Silent_p.S544S|ZNF92_uc003tub.3_Silent_p.S500S|ZNF92_uc022afd.1_Non-coding_Transcript	p.S576S	NM_152626	NP_009070	Q03936	ZNF92_HUMAN			3	1871	+		Lung NSC(55;0.159)	576					A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.1728C>A	CCDS34646.1																																																																																				0.348	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		A	64864755	C	A	64864755	2	1	86	1	0	0	0	0	0	0	0	1	18198	668	24	5		5	ZNF92	7	64864755	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08		64864755	94273908	23	5786											
MTERF	7978	broad.mit.edu	37	chr7	91503564	91503564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatccaactgagtagaggaActttatattattctctaagt	14	14	6	7	0	1	2	0	1	1	1	3	3	2	3	1	1	2	1	1	1	8	7			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:91503564A>G	ENST00000351870.3	-	3	637	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	MTERF_ENST00000419292.1_Missense_Mutation_p.F162L|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.F162L	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		182					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GAGTAGAGGAACTTTATATTA	0.378																																						uc003ulc.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14						c.(544-546)Ttc>Ctc		Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.							75	76	75					7																	91503564		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503564A>G																												ENST00000351870.3:c.544T>C	7.37:g.91503564A>G	ENSP00000248643:p.Phe182Leu					MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	p.F182L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	620	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		182					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.544T>C	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185562	0.78677	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.11169	2.8;2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.70275	2.135	0.58432	D	0.999999	D	0.53745	0.962	P	0.46850	0.529	T	0.00915	-1.1516	10	0.49607	T	0.09	-11.4754	8.9403	0.35725	0.9089:0.0:0.0911:0.0	.	182	Q99551	MTERF_HUMAN	L	162;182;162	ENSP00000414116:F162L;ENSP00000248643:F182L;ENSP00000384986:F162L	ENSP00000248643:F182L	F	-	1	0	MTERF	91341500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.163000	0.64948	2.025000	0.59659	0.482000	0.46254	TTC		0.378	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			G	91503564	A	G	91503564	3	3	86	1	0	0	0	0	1	0	0	0	9918	43	2	4	659	4	MTERF	7	91503564	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	26638809	91503564	67635099	24	5787											
CCDC132	55610	broad.mit.edu	37	chr7	92883220	92883220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattagaggcgtatagagaCaaattgaaacaacagcaagc	19	6	10	6	1	0	3	0	1	0	2	0	5	0	3	0	1	4	2	0	1	8	4	rs558137904	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:92883220C>G	ENST00000305866.5	+	4	401	c.273C>G	c.(271-273)gaC>gaG	p.D91E	CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.D61E|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.D91E|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	91						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTATAGAGACAAATTGAAAC	0.323																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(271-273)gaC>gaG		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							43	43	43					7																	92883220		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92883220C>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.273C>G	7.37:g.92883220C>G	ENSP00000307666:p.Asp91Glu					CCDC132_uc003ump.3_Missense_Mutation_p.D61E|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.D91E	p.D91E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	401	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		91					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.273C>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949544	0.18356	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	4.65	4.65	0.58169	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.17082	0.46	0.80722	D	1	D;P;B	0.53151	0.958;0.942;0.048	P;P;B	0.57776	0.827;0.729;0.03	T	0.36089	-0.9762	9	0.02654	T	1	-12.3977	11.5661	0.50807	0.0:0.918:0.0:0.082	.	61;91;91	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	E	91;91;61;90	.	ENSP00000251739:D91E	D	+	3	2	CCDC132	92721156	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.805000	0.27112	2.591000	0.87537	0.650000	0.86243	GAC		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92883220	C	G	92883220	3	3	86	1	0	0	0	0	1	0	0	0	2767	477	17	5	287	5	CCDC132	7	92883220	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	1379656	92883220	66255443	25	5788											
WNT2	7472	broad.mit.edu	37	chr7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgccctggctaatggcacGcatcacatctggatgtcggt	8	9	11	13	3	2	0	1	0	1	0	3	1	2	1	1	4	0	3	1	4	1	1	rs376068978		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:116960744G>A	ENST00000265441.3	-	2	486	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	63					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607													G|||	1	0.000199681	0	0	5008	,	,		19504	0.001		0	False		,,,				2504	0					uc003viz.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(187-189)Cgt>Tgt		Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.		G	CYS/ARG	0,4406		0,0,2203	66	53	57		187	5.4	1	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/361	116960744	1,13005	2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960744G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.187C>T	7.37:g.116960744G>A	ENSP00000265441:p.Arg63Cys					WNT2_uc003vja.3_5'UTR	p.R63C	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	487	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		63					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.187C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552974	0.86127	0.0	1.16E-4	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76316	-1.01;-1.01	5.42	5.42	0.78866	.	0.112301	0.64402	D	0.000005	D	0.84174	0.5414	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.56788	0.806	T	0.82855	-0.0251	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:0.0:1.0:0.0	.	63	P09544	WNT2_HUMAN	C	63	ENSP00000265441:R63C;ENSP00000419466:R63C	ENSP00000265441:R63C	R	-	1	0	WNT2	116747980	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.386000	0.97228	2.691000	0.91804	0.655000	0.94253	CGT		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		A	116960744	G	A	116960744	3	1	86	1	0	0	0	0	1	0	0	0	17383	1087	38	1	911	1	WNT2	7	116960744	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	24077524	116960744	42177919	26	5789											
UBN2	254048	broad.mit.edu	37	chr7	138978177	138978177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaaccacctcgggatctaCctcagccgctttccaccata	10	8	6	17	2	2	0	1	0	1	0	4	2	3	1	6	1	3	1	6	1	3	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:138978177C>T	ENST00000473989.3	+	16	3869	c.3869C>T	c.(3868-3870)aCc>aTc	p.T1290I	UBN2_ENST00000288561.8_Missense_Mutation_p.T1207I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1290						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCGGGATCTACCTCAGCCGCT	0.502																																						uc011kqr.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3868-3870)aCc>aTc		Homo sapiens ubinuclein 2 (UBN2), mRNA.							79	76	77					7																	138978177		1903	4115	6018	SO:0001583	missense	254048							g.chr7:138978177C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3869C>T	7.37:g.138978177C>T	ENSP00000418648:p.Thr1290Ile						p.T1290I	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			15	3869	+			1290					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3869C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701824	0.88924	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36699	1.24;1.34	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.43152	1.355	0.51233	D	0.999914	D	0.76494	0.999	D	0.78314	0.991	T	0.53732	-0.8397	10	0.72032	D	0.01	-11.3309	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1290	Q6ZU65	UBN2_HUMAN	I	1290;1207	ENSP00000418648:T1290I;ENSP00000288561:T1207I	ENSP00000288561:T1207I	T	+	2	0	UBN2	138628717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.882000	0.98803	0.655000	0.94253	ACC		0.502	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		T	138978177	C	T	138978177	3	4	86	1	0	0	0	0	1	0	0	0	16890	507	18	3	3931	3	UBN2	7	138978177	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	22017433	138978177	20160486	27	5790											
KEL	3792	broad.mit.edu	37	chr7	142651272	142651272	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccccagttccaggcaccTtgagctggtcgatagtgacc	7	8	12	14	1	0	2	0	2	0	0	2	3	1	2	5	3	1	3	5	3	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:142651272T>C	ENST00000355265.2	-	8	1397	c.923A>G	c.(922-924)aAg>aGg	p.K308R	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	308					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCAGGCACCTTGAGCTGGTC	0.547																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.e8+1		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							32	35	34					7																	142651272		2203	4300	6503	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651272T>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.924+1A>G	7.37:g.142651272T>C							p.K308_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1134	-	Melanoma(164;0.059)		308					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.924_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710353	0.30322	.	.	ENSG00000197993	ENST00000355265	T	0.74737	-0.87	6.07	4.91	0.64330	Peptidase M13 (1);	0.111063	0.40640	N	0.001042	T	0.63498	0.2516	L	0.34521	1.04	0.26645	N	0.972204	B	0.20780	0.048	B	0.22386	0.039	T	0.58098	-0.7696	10	0.56958	D	0.05	-2.3995	9.5742	0.39447	0.1562:0.0:0.0:0.8438	.	308	P23276	KELL_HUMAN	R	308	ENSP00000347409:K308R	ENSP00000347409:K308R	K	-	2	0	KEL	142361394	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	4.157000	0.58144	1.096000	0.41439	-0.481000	0.04817	AAG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Missense_Mutation	C	142651272	T	C	142651272	5	2	86	1	0	0	0	0	0	0	1	0	8142	1623	56	4	1323	4	KEL	7	142651272	Splice_Site	SNP	T	TCGA-06-5408-01A-01D-1696-08	3673095	142651272	16487391	28	5791											
XKR4	114786	broad.mit.edu	37	chr8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtccatctccaacaaccGcagtgttgtcagcgaccgcg	9	7	10	15	5	2	0	1	0	1	0	4	1	3	0	4	1	3	2	4	1	2	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:56436491G>A	ENST00000327381.6	+	3	1758	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592																																						uc003xsf.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1657-1659)cGc>cAc		Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.							66	68	68					8																	56436491		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436491G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1658G>A	8.37:g.56436491G>A	ENSP00000328326:p.Arg553His						p.R553H	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	1690	+			553					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1658G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369632	0.61624	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84730	-1.89	5.95	5.95	0.96441	.	0.366493	0.32655	N	0.005816	D	0.89989	0.6875	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88742	0.3244	10	0.45353	T	0.12	0.8557	20.3931	0.98965	0.0:0.0:1.0:0.0	.	553	Q5GH76	XKR4_HUMAN	H	553	ENSP00000328326:R553H	ENSP00000328326:R553H	R	+	2	0	XKR4	56599045	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	7.876000	0.87215	2.824000	0.97209	0.655000	0.94253	CGC		0.592	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		A	56436491	G	A	56436491	3	1	86	1	0	0	0	0	1	0	0	0	17430	1087	38	1	1668	1	XKR4	8	56436491	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		56436491	89927531	29	5792											
JPH1	56704	broad.mit.edu	37	chr8	75171693	75171693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcctggcgagcggccagCgcggcctggtcggcggcatc	4	5	16	16	6	0	0	0	0	0	0	3	1	1	0	3	6	2	1	3	6	0	0	rs199614841	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:75171693C>T	ENST00000342232.4	-	3	1225	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGCGGCCAGCGCGGCCTGGT	0.592													C|||	19	0.00379393	0	0	5008	,	,		15804	0		0	False		,,,				2504	0.0194					uc003yae.3																			0		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1183-1185)gcG>gcA		Homo sapiens junctophilin 1 (JPH1), mRNA.		C		0,4404		0,0,2202	32	34	33		1185	-10.2	0	8		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JPH1	NM_020647.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		395/662	75171693	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171693C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1185G>A	8.37:g.75171693C>T						JPH1_uc003yaf.3_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	p.A395A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1225	-	Breast(64;0.00576)		395			Ala-rich.		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.1185G>A	CCDS6217.1																																																																																				0.592	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			T	75171693	C	T	75171693	2	4	86	1	0	0	0	0	0	0	0	1	7960	755	27	1		1	JPH1	8	75171693	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	18735202	75171693	71192329	30	5793											
GEM	2669	broad.mit.edu	37	chr8	95262754	95262754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagctccttcacgttgtgCtggacagctgcagaggtctc	8	10	11	12	1	2	1	1	0	1	1	4	2	3	2	1	2	5	5	1	2	1	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:95262754C>T	ENST00000297596.2	-	5	939	c.675G>A	c.(673-675)caG>caA	p.Q225Q	GEM_ENST00000396194.2_Silent_p.Q225Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	225					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACGTTGTGCTGGACAGCTG	0.562																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygi.3																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(673-675)caG>caA		Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.							60	54	56					8																	95262754		2203	4300	6503	SO:0001819	synonymous_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95262754C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.675G>A	8.37:g.95262754C>T						GEM_uc003ygj.3_Silent_p.Q225Q	p.Q225Q	NM_181702	NP_859053	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	799	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	225					B2RA31	Silent	SNP	ENST00000297596.2	37	c.675G>A	CCDS6261.1																																																																																				0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		T	95262754	C	T	95262754	2	4	86	1	0	0	0	0	0	0	0	1	6329	796	28	3		3	GEM	8	95262754	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	20091061	95262754	51101268	31	5794											
TTC18	118491	broad.mit.edu	37	chr10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtgcctgaagcatccGtgcctgaagctgtttggagg	7	12	13	9	1	0	2	0	2	0	0	1	3	1	3	3	2	5	3	3	2	3	3	rs141991496		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:75051125G>A	ENST00000310715.3	-	20	2428	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_ENST00000394865.1_Missense_Mutation_p.R770W|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		770						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423																																						uc009xrc.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2308-2310)Cgg>Tgg		Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.		G	TRP/ARG	0,4406		0,0,2203	186	168	174		2308	3.4	0.3	10	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	missense	TTC18	NM_145170.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	770/1122	75051125	2,13004	2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051125G>A																												ENST00000310715.3:c.2308C>T	10.37:g.75051125G>A	ENSP00000310829:p.Arg770Trp					TTC18_uc001jty.3_Missense_Mutation_p.R770W|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.R151W	p.R770W	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			19	2429	-	Prostate(51;0.0119)		770					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2308C>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139400	0.56936	0.0	2.33E-4	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.34072	1.76;1.76;1.4;1.38	5.32	3.37	0.38596	.	1.364340	0.04451	N	0.372639	T	0.38665	0.1049	M	0.64997	1.995	0.09310	N	1	D	0.63046	0.992	B	0.42653	0.394	T	0.27157	-1.0082	10	0.39692	T	0.17	-7.9559	7.4894	0.27452	0.0895:0.0:0.747:0.1635	.	770	Q5T0N1	TTC18_HUMAN	W	770;770;770;177;770	ENSP00000310829:R770W;ENSP00000384479:R770W;ENSP00000409527:R177W;ENSP00000378334:R770W	ENSP00000310829:R770W	R	-	1	2	TTC18	74721131	0.092000	0.21681	0.324000	0.25361	0.179000	0.23085	1.945000	0.40273	1.388000	0.46506	-0.194000	0.12790	CGG		0.423	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	75051125	G	A	75051125	3	1	86	1	0	0	0	0	1	0	0	0	16682	1144	40	1	1093	1	TTC18	10	75051125	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		75051125	60483622	32	5795											
MMP21	118856	broad.mit.edu	37	chr10	127462500	127462500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccacatcctgaaggccagCgccacaatgcgccgctggtc	8	6	10	17	3	0	1	0	1	0	0	3	1	2	1	5	2	2	1	5	2	2	0	rs138636566		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:127462500C>T	ENST00000368808.3	-	2	596	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	199					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TGAAGGCCAGCGCCACAATGC	0.701																																						uc001liu.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(595-597)gcG>gcA		Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.							13	15	14					10																	127462500		2114	4164	6278	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127462500C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.597G>A	10.37:g.127462500C>T							p.A199A	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			1	597	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	199					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.597G>A	CCDS7647.1																																																																																				0.701	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			T	127462500	C	T	127462500	2	4	86	1	0	0	0	0	0	0	0	1	9660	755	27	1		1	MMP21	10	127462500	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	52411375	127462500	8072247	33	5796											
CNGA4	1262	broad.mit.edu	37	chr11	6261559	6261559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctttacatttttgtcGtcatccattggaacagctgc	8	16	8	9	1	1	1	1	1	0	0	3	2	2	2	1	1	5	2	1	1	2	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:6261559G>A	ENST00000379936.2	+	4	650	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	179					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTTTGTCGTCATCCATTG	0.597																																						uc001mco.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(535-537)Gtc>Atc		Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.							67	66	67					11																	6261559		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261559G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.535G>A	11.37:g.6261559G>A	ENSP00000369268:p.Val179Ile					CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.V139I	p.V179I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	650	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	179						Missense_Mutation	SNP	ENST00000379936.2	37	c.535G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	4.933	0.173386	0.09391	.	.	ENSG00000132259	ENST00000379936	D	0.97066	-4.23	5.25	5.25	0.73442	Ion transport (1);	0.127145	0.53938	D	0.000059	D	0.83505	0.5269	N	0.00178	-1.915	0.31759	N	0.633604	B;B	0.31413	0.322;0.063	B;B	0.19148	0.024;0.012	T	0.80968	-0.1145	10	0.02654	T	1	.	17.7596	0.88461	0.0:0.0:1.0:0.0	.	179;139	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	I	179	ENSP00000369268:V179I	ENSP00000369268:V179I	V	+	1	0	CNGA4	6218135	0.796000	0.28864	0.992000	0.48379	0.996000	0.88848	1.288000	0.33296	2.602000	0.87976	0.650000	0.86243	GTC		0.597	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		A	6261559	G	A	6261559	3	1	86	1	0	0	0	0	1	0	0	0	3599	1145	40	1	549	1	CNGA4	11	6261559	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		6261559	128744957	34	5797											
RAG2	5897	broad.mit.edu	37	chr11	36614338	36614338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtgtgcgttctgccaGatccatgcactgagcatgga	9	10	13	9	1	1	3	0	2	1	1	2	5	2	4	2	1	4	3	2	1	0	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:36614338G>T	ENST00000311485.3	-	2	1542	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	461					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CGTTCTGCCAGATCCATGCAC	0.498									Familial Hemophagocytic Lymphohistiocytosis																													uc021qge.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1381-1383)Ctg>Atg		Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.							132	112	118					11																	36614338		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614338G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1381C>A	11.37:g.36614338G>T	ENSP00000308620:p.Leu461Met					RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.L461M|RAG2_uc021qgd.1_Missense_Mutation_p.L461M|RAG2_uc001mwv.4_Missense_Mutation_p.L461M|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	p.L461M	NM_001243786	NP_001230715	P55895	RAG2_HUMAN			0	1381	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	461					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1381C>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863646	0.51482	.	.	ENSG00000175097	ENST00000311485	D	0.97642	-4.47	5.37	3.07	0.35406	.	0.000000	0.64402	D	0.000001	D	0.97964	0.9330	M	0.79475	2.455	0.47584	D	0.999464	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.87932	D	0	-3.5775	11.6252	0.51139	0.1898:0.0:0.8102:0.0	.	461	P55895	RAG2_HUMAN	M	461	ENSP00000308620:L461M	ENSP00000308620:L461M	L	-	1	2	RAG2	36570914	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.353000	0.66034	1.376000	0.46267	0.650000	0.86243	CTG		0.498	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		T	36614338	G	T	36614338	3	4	86	1	0	0	0	0	1	0	0	0	13005	933	33	5	206	5	RAG2	11	36614338	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	30352779	36614338	98392178	35	5798											
ACCS	84680	broad.mit.edu	37	chr11	44105037	44105037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgctttttggacaacaagGtgctgctgtcctttggcaag	7	12	12	10	1	0	0	0	0	0	0	1	1	1	1	2	3	3	4	2	3	3	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:44105037G>A	ENST00000263776.8	+	14	1752	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	440					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGACAACAAGGTGCTGCTGTC	0.572																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(1318-1320)Gtg>Atg		Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.							87	76	80					11																	44105037		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44105037G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1318G>A	11.37:g.44105037G>A	ENSP00000263776:p.Val440Met					EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V440M	p.V440M	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN			13	1462	+			440					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.1318G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486936	0.84854	.	.	ENSG00000110455	ENST00000263776	T	0.35421	1.31	5.91	5.91	0.95273	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.065663	0.64402	D	0.000010	T	0.68888	0.3050	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73300	-0.4026	10	0.72032	D	0.01	-22.573	19.8936	0.96942	0.0:0.0:1.0:0.0	.	440	Q96QU6	1A1L1_HUMAN	M	440	ENSP00000263776:V440M	ENSP00000263776:V440M	V	+	1	0	ACCS	44061613	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.933000	0.63484	2.793000	0.96121	0.655000	0.94253	GTG		0.572	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		A	44105037	G	A	44105037	3	1	86	1	0	0	0	0	1	0	0	0	133	1261	44	3	1368	3	ACCS	11	44105037	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	7490699	44105037	90901479	36	5799											
OR5L2	26338	broad.mit.edu	37	chr11	55594870	55594870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggctccacacccccgTgtactttttcctcagccact	5	12	5	19	2	2	0	1	0	1	0	5	0	4	0	5	1	2	2	5	1	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:55594870T>A	ENST00000378397.1	+	1	176	c.176T>A	c.(175-177)gTg>gAg	p.V59E		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	59			V -> M (in dbSNP:rs56711116).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACACCCCCGTGTACTTTTTC	0.468										HNSCC(27;0.073)																												uc001nhy.1																			0		p.V59M(1)|p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(175-177)gTg>gAg		Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.							242	224	230					11																	55594870		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594870T>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.176T>A	11.37:g.55594870T>A	ENSP00000367650:p.Val59Glu	HNSCC(27;0.073)					p.V59E	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			0	176	+		all_epithelial(135;0.208)	59		V -> M (in dbSNP:rs56711116).			Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.176T>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.137872	0.37728	.	.	ENSG00000205030	ENST00000378397	T	0.03152	4.03	5.31	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.04770	0.0129	L	0.39245	1.2	0.22446	N	0.99909	B	0.20164	0.042	B	0.26969	0.075	T	0.29610	-1.0006	10	0.87932	D	0	-56.956	10.4867	0.44726	0.0:0.0777:0.0:0.9223	.	59	Q8NGL0	OR5L2_HUMAN	E	59	ENSP00000367650:V59E	ENSP00000367650:V59E	V	+	2	0	OR5L2	55351446	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	4.709000	0.61867	0.989000	0.38761	0.509000	0.49947	GTG		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		A	55594870	T	A	55594870	3	1	86	1	0	0	0	0	1	0	0	0	11171	1696	59	5	178	5	OR5L2	11	55594870	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08	11489833	55594870	79411646	37	5800											
SLC22A9	114571	broad.mit.edu	37	chr11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaaatacatgaaccgtcGagcaagccagatgcttctca	14	8	8	11	2	1	3	1	2	1	1	3	4	1	3	2	0	5	2	2	0	4	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:63174115G>A	ENST00000279178.3	+	7	1469	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	407					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483																																						uc001nww.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1219-1221)cGa>cAa		Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.							169	128	142					11																	63174115		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63174115G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1220G>A	11.37:g.63174115G>A	ENSP00000279178:p.Arg407Gln					SLC22A9_uc001nwx.3_Non-coding_Transcript	p.R407Q	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			6	1488	+			407					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1220G>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232676	0.58777	.	.	ENSG00000149742	ENST00000279178	T	0.62788	-0.0	3.05	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.070621	0.64402	N	0.000017	T	0.71178	0.3309	M	0.79343	2.45	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.63765	-0.6563	10	0.72032	D	0.01	.	7.4477	0.27221	0.5528:0.0:0.4472:0.0	.	407	Q8IVM8	S22A9_HUMAN	Q	407	ENSP00000279178:R407Q	ENSP00000279178:R407Q	R	+	2	0	SLC22A9	62930691	0.002000	0.14202	0.000000	0.03702	0.461000	0.32589	1.132000	0.31418	-0.424000	0.07382	0.205000	0.17691	CGA		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63174115	G	A	63174115	3	1	86	1	0	0	0	0	1	0	0	0	14461	1058	37	2	1246	2	SLC22A9	11	63174115	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	7579245	63174115	71832401	38	5801											
STYK1	55359	broad.mit.edu	37	chr12	10772903	10772903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctctctaggtgaggggCggtcagcctcacgccagcgc	6	6	15	14	3	3	1	2	1	1	0	4	1	3	1	2	4	3	2	2	4	1	1	rs554694983		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:10772903C>T	ENST00000075503.3	-	11	1629	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGTGAGGGGCGGTCAGCCTC	0.527										HNSCC(73;0.22)			C|||	1	0.000199681	0	0	5008	,	,		17944	0.001		0	False		,,,				2504	0					uc001qys.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1108-1110)cGc>cAc		Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.							120	127	125					12																	10772903		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772903C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1109G>A	12.37:g.10772903C>T	ENSP00000075503:p.Arg370His	HNSCC(73;0.22)					p.R370H	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			10	1630	-			370			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1109G>A	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246355	0.80024	.	.	ENSG00000060140	ENST00000075503	D	0.90732	-2.72	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.97359	0.9136	H	0.98276	4.19	0.49915	D	0.999835	D	0.89917	1.0	D	0.97110	1.0	D	0.98894	1.0774	10	0.87932	D	0	-14.5174	16.3911	0.83541	0.0:1.0:0.0:0.0	.	370	Q6J9G0	STYK1_HUMAN	H	370	ENSP00000075503:R370H	ENSP00000075503:R370H	R	-	2	0	STYK1	10664170	0.996000	0.38824	0.894000	0.35097	0.664000	0.39144	5.025000	0.64097	2.471000	0.83476	0.563000	0.77884	CGC		0.527	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		T	10772903	C	T	10772903	3	4	86	1	0	0	0	0	1	0	0	0	15358	768	27	1	163	1	STYK1	12	10772903	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		10772903	123078992	39	5802											
TMEM5	10329	broad.mit.edu	37	chr12	64202634	64202634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggcaactgtgggaataCatctgtgcaccacggtgctc	9	9	12	11	1	1	0	0	0	1	0	2	1	1	1	1	3	5	4	1	3	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:64202634C>T	ENST00000261234.6	+	6	1252	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000537373.1_Missense_Mutation_p.T105I	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	365						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGTGGGAATACATCTGTGCAC	0.478																																						uc001srq.1																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(1093-1095)aCa>aTa		Homo sapiens transmembrane protein 5 (TMEM5), mRNA.							145	130	135					12																	64202634		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64202634C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1094C>T	12.37:g.64202634C>T	ENSP00000261234:p.Thr365Ile					TMEM5_uc001srs.1_Missense_Mutation_p.T105I	p.T365I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	5	1198	+		Myeloproliferative disorder(1001;0.0255)	365					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.1094C>T	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410759	0.25465	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.87	4.87	0.63330	.	0.458216	0.25321	N	0.031513	T	0.51007	0.1649	L	0.51422	1.61	0.20489	N	0.999898	P;P	0.36837	0.571;0.571	B;B	0.42692	0.225;0.395	T	0.46062	-0.9218	8	.	.	.	-20.4369	18.8922	0.92408	0.0:1.0:0.0:0.0	.	105;365	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	I	365;105	.	.	T	+	2	0	TMEM5	62488901	0.106000	0.21978	0.010000	0.14722	0.034000	0.12701	4.247000	0.58750	2.646000	0.89796	0.491000	0.48974	ACA		0.478	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		T	64202634	C	T	64202634	3	4	86	1	0	0	0	0	1	0	0	0	16171	478	17	3	1116	3	TMEM5	12	64202634	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	53429731	64202634	69649261	40	5803											
OAS2	4939	broad.mit.edu	37	chr12	113447011	113447011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctccctgcttcaaggatgGgactggaaacccaataccac	11	8	8	14	0	2	0	1	0	1	0	3	3	2	3	3	3	3	1	3	3	4	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:113447011G>T	ENST00000342315.4	+	10	2229	c.2015G>T	c.(2014-2016)gGg>gTg	p.G672V	OAS2_ENST00000392583.2_Missense_Mutation_p.G672V|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	672	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCAAGGATGGGACTGGAAAC	0.502																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0		p.D671N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2014-2016)gGg>gTg		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.							238	230	233					12																	113447011		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447011G>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2015G>T	12.37:g.113447011G>T	ENSP00000342278:p.Gly672Val					OAS2_uc001tui.1_Missense_Mutation_p.G672V	p.G672V	NM_016817	NP_058197	P29728	OAS2_HUMAN			9	2155	+			672			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2015G>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481841	0.44147	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.44083	0.93;0.93	4.39	0.51	0.16983	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.631060	0.03836	N	0.269831	T	0.50684	0.1630	L	0.59436	1.845	0.09310	N	0.999999	P;P	0.50369	0.864;0.934	P;P	0.52554	0.702;0.696	T	0.32402	-0.9908	10	0.42905	T	0.14	-19.517	6.665	0.23035	0.4076:0.0:0.5924:0.0	.	672;672	P29728;P29728-2	OAS2_HUMAN;.	V	672	ENSP00000342278:G672V;ENSP00000376362:G672V	ENSP00000342278:G672V	G	+	2	0	OAS2	111931394	0.011000	0.17503	0.000000	0.03702	0.331000	0.28603	0.547000	0.23299	-0.077000	0.12752	-0.777000	0.03380	GGG		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113447011	G	T	113447011	3	4	86	1	0	0	0	0	1	0	0	0	10800	1232	43	5	2124	5	OAS2	12	113447011	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	49244377	113447011	20404884	41	5804											
FREM2	341640	broad.mit.edu	37	chr13	39422735	39422735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaatttgaactggtgcttCgcatgcctatgaacgcagcc	11	10	10	10	2	0	3	0	2	0	1	1	3	0	3	2	1	5	3	2	1	4	3	rs368450271		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:39422735C>T	ENST00000280481.7	+	8	6523	c.6307C>T	c.(6307-6309)Cgc>Tgc	p.R2103C	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2103	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGTGCTTCGCATGCCTAT	0.463																																						uc001uwv.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6307-6309)Cgc>Tgc		Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	110	107	108		6307	5.4	1	13		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	FREM2	NM_207361.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2103/3170	39422735	1,13005	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39422735C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6307C>T	13.37:g.39422735C>T	ENSP00000280481:p.Arg2103Cys					FREM2_uc001uww.3_Missense_Mutation_p.R189C	p.R2103C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	7	6616	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2103			Calx-beta 3.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6307C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167166	0.78339	0.0	1.16E-4	ENSG00000150893	ENST00000280481	T	0.27720	1.65	5.37	5.37	0.77165	Na-Ca exchanger/integrin-beta4 (1);	0.056796	0.64402	D	0.000001	T	0.60235	0.2253	M	0.86651	2.83	0.80722	D	1	D;B	0.89917	1.0;0.376	D;B	0.71184	0.972;0.117	T	0.67106	-0.5754	10	0.87932	D	0	.	14.8911	0.70609	0.1523:0.8477:0.0:0.0	.	2103;2103	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2103	ENSP00000280481:R2103C	ENSP00000280481:R2103C	R	+	1	0	FREM2	38320735	0.969000	0.33509	1.000000	0.80357	0.853000	0.48598	2.387000	0.44389	2.546000	0.85860	0.650000	0.86243	CGC		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39422735	C	T	39422735	3	4	86	1	0	0	0	0	1	0	0	0	6045	884	31	2	6337	2	FREM2	13	39422735	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		39422735	75747143	42	5805											
MED4	29079	broad.mit.edu	37	chr13	48669208	48669208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcaccactcgaagacgCagccattttccccagagtcc	9	9	6	17	2	1	2	1	0	1	2	5	3	3	2	5	0	1	1	5	0	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:48669208C>T	ENST00000258648.2	-	1	32	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	MED4_ENST00000378586.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	3					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTCGAAGACGCAGCCATTTTC	0.662											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(38;399 1016 9170 13426 20145)	uc001vby.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(7-9)Gcg>Acg		Homo sapiens mediator complex subunit 4 (MED4), mRNA.							47	42	44					13																	48669208		2203	4300	6503	SO:0001583	missense	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48669208C>T	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.7G>A	13.37:g.48669208C>T	ENSP00000258648:p.Ala3Thr		OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	MED4_uc010tgf.1_5'UTR	p.A3T	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	0	33	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	3					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.7G>A	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294936	0.60086	.	.	ENSG00000136146	ENST00000258648	.	.	.	4.93	4.08	0.47627	.	0.154342	0.44285	D	0.000472	T	0.51466	0.1676	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54497	-0.8285	9	0.87932	D	0	-9.2862	10.791	0.46432	0.0:0.9075:0.0:0.0925	.	3	Q9NPJ6	MED4_HUMAN	T	3	.	ENSP00000258648:A3T	A	-	1	0	MED4	47567209	0.999000	0.42202	1.000000	0.80357	0.606000	0.37113	2.101000	0.41787	2.714000	0.92807	0.655000	0.94253	GCG		0.662	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		T	48669208	C	T	48669208	3	4	86	1	0	0	0	0	1	0	0	0	9450	710	25	3	833	3	MED4	13	48669208	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	9246473	48669208	66500670	43	5806											
ABCC4	10257	broad.mit.edu	37	chr13	95715015	95715015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccaatttcagttgtcaaGatcttatcaatccaaatttt	13	16	4	8	0	4	1	3	0	1	1	6	1	6	1	2	0	0	1	2	0	5	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:95715015G>C	ENST00000376887.4	-	26	3423	c.3309C>G	c.(3307-3309)atC>atG	p.I1103M	ABCC4_ENST00000412704.1_Missense_Mutation_p.I1056M	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1103	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAGTTGTCAAGATCTTATCAA	0.423																																						uc001vmd.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3307-3309)atC>atG		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	Cefazolin(DB01327)						129	121	124					13																	95715015		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95715015G>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3309C>G	13.37:g.95715015G>C	ENSP00000366084:p.Ile1103Met					ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.I1056M	p.I1103M	NM_005845	NP_005836	O15439	MRP4_HUMAN			25	3428	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1103			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3309C>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999293	0.35226	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.93811	-3.29;-3.29	6.16	5.15	0.70609	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.446678	0.26190	N	0.025811	D	0.93605	0.7958	L	0.46670	1.46	0.80722	D	1	P;P	0.43973	0.823;0.635	P;B	0.56612	0.802;0.41	D	0.91531	0.5242	10	0.39692	T	0.17	.	10.9559	0.47358	0.186:0.0:0.814:0.0	.	1056;1103	O15439-2;O15439	.;MRP4_HUMAN	M	1056;1103	ENSP00000388657:I1056M;ENSP00000366084:I1103M	ENSP00000366084:I1103M	I	-	3	3	ABCC4	94513016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.452000	0.44961	2.937000	0.99478	0.650000	0.86243	ATC		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		C	95715015	G	C	95715015	3	2	86	1	0	0	0	0	1	0	0	0	55	932	33	5	692	5	ABCC4	13	95715015	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	47045807	95715015	19454863	44	5807											
RTN1	6252	broad.mit.edu	37	chr14	60212584	60212584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagaaggttctatttccGtcagtgtgattttgacaggg	10	13	11	7	1	2	3	1	2	1	1	3	3	3	3	1	2	1	1	1	2	3	5	rs377312291		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:60212584G>A	ENST00000267484.5	-	2	1192	c.857C>T	c.(856-858)aCg>aTg	p.T286M		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	286					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCTATTTCCGTCAGTGTGAT	0.458																																						uc001xen.1																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(856-858)aCg>aTg		Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.							113	106	109					14																	60212584		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212584G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.857C>T	14.37:g.60212584G>A	ENSP00000267484:p.Thr286Met						p.T286M	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	1	1066	-			286					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.857C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812030	0.70797	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.39056	1.1	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70160	-0.4948	10	0.87932	D	0	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	286	Q16799	RTN1_HUMAN	M	286;212	ENSP00000267484:T286M	ENSP00000267484:T286M	T	-	2	0	RTN1	59282337	1.000000	0.71417	0.956000	0.39512	0.775000	0.43874	5.413000	0.66399	2.588000	0.87417	0.557000	0.71058	ACG		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			A	60212584	G	A	60212584	3	1	86	1	0	0	0	0	1	0	0	0	13725	1145	40	1	1570	1	RTN1	14	60212584	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		60212584	47136956	45	5808											
C14orf68	283600	broad.mit.edu	37	chr14	100795869	100795869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcgagaggagggacccCgggtccttttcaaggggctg	6	8	17	10	3	1	1	1	0	0	1	3	4	2	3	3	5	0	2	3	5	1	3	rs145556108		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:100795869C>T	ENST00000361529.3	+	6	892	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SLC25A47_ENST00000557052.1_Missense_Mutation_p.R126W	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	272					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGAGGGACCCCGGGTCCTTTT	0.637													C|||	1	0.000199681	0	0	5008	,	,		17412	0		0	False		,,,				2504	0.001				GBM(11;1289 1351)	uc001yhc.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(814-816)Cgg>Tgg		Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.		C	TRP/ARG	0,4406		0,0,2203	65	71	69		814	-8	0	14	dbSNP_134	69	7,8593	5.0+/-18.6	0,7,4293	yes	missense	SLC25A47	NM_207117.2	101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	272/309	100795869	7,12999	2203	4300	6503	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795869C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.814C>T	14.37:g.100795869C>T	ENSP00000354886:p.Arg272Trp					SLC25A47_uc001yhd.3_Missense_Mutation_p.R126W	p.R272W	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			5	887	+			272					B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.814C>T	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708160	0.48412	0.0	8.14E-4	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.80994	-1.44;-1.44	5.38	-8.0	0.01126	Mitochondrial carrier domain (2);	0.290655	0.39083	N	0.001467	D	0.85630	0.5741	M	0.88570	2.965	0.09310	N	0.999999	D	0.60575	0.988	P	0.61722	0.893	T	0.81219	-0.1032	10	0.72032	D	0.01	-5.8274	11.1557	0.48486	0.7503:0.1133:0.0717:0.0648	.	272	Q6Q0C1	S2547_HUMAN	W	272;126	ENSP00000354886:R272W;ENSP00000451078:R126W	ENSP00000354886:R272W	R	+	1	2	SLC25A47	99865622	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.855000	0.27805	-1.096000	0.03046	-0.324000	0.08512	CGG		0.637	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			T	100795869	C	T	100795869	3	4	86	1	0	0	0	0	1	0	0	0	1778	643	23	2	836	2	C14orf68	14	100795869	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	40583285	100795869	6553671	46	5809											
AHNAK2	113146	broad.mit.edu	37	chr14	105417146	105417146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctggacctccaggtcagCagaagggggctgtatgctca	9	7	14	11	0	2	1	2	0	0	1	3	2	3	2	3	4	3	4	3	4	2	1	rs369187097	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:105417146C>T	ENST00000333244.5	-	7	4761	c.4642G>A	c.(4642-4644)Gct>Act	p.A1548T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1548						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A1548S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCAGAAGGGGGC	0.642													.|||	2	0.000399361	0	0	5008	,	,		14574	0		0	False		,,,				2504	0.002					uc010axc.1																			1	Substitution - Missense(1)	p.A1548S(1)	endometrium(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4642-4644)Gct>Act		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.		C	THR/ALA	1,3829		0,1,1914	106	103	104		4642	-2.8	0	14		104	0,8162		0,0,4081	no	missense	AHNAK2	NM_138420.2	58	0,1,5995	TT,TC,CC		0.0,0.0261,0.0083	possibly-damaging	1548/5796	105417146	1,11991	1915	4081	5996	SO:0001583	missense	113146					nucleus		g.chr14:105417146C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4642G>A	14.37:g.105417146C>T	ENSP00000353114:p.Ala1548Thr					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	p.A1548T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1548					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4642G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.988922	0.53934	2.61E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00912	5.55	4.16	-2.84	0.05751	.	.	.	.	.	T	0.01029	0.0034	L	0.61387	1.9	0.09310	N	1	B	0.28713	0.22	B	0.22880	0.042	T	0.41288	-0.9517	9	0.27785	T	0.31	-15.4243	3.9889	0.09529	0.2547:0.4426:0.0:0.3027	.	1548	Q8IVF2	AHNK2_HUMAN	T	1548	ENSP00000353114:A1548T	ENSP00000353114:A1548T	A	-	1	0	AHNAK2	104488191	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.677000	0.01944	-0.793000	0.04475	-0.350000	0.07774	GCT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105417146	C	T	105417146	3	4	86	1	0	0	0	0	1	0	0	0	415	710	25	3	12749	3	AHNAK2	14	105417146	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	4621277	105417146	1932394	47	5810											
ATP10A	57194	broad.mit.edu	37	chr15	25966826	25966827	+	Frame_Shift_Ins	INS	-	-	AC																															ttgcatcatgagaatattctINSacaccagacacagtgcatct																										TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:25966826_25966827insAC	ENST00000356865.6	-	7	1451_1452	c.1340_1341insGT	c.(1339-1341)gtafs	p.V447fs		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	447					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGAATATTCTACACCAGACAC	0.46																																						uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1339-1341)gtafs		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.																																				SO:0001589	frameshift_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25966826_25966827insAC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1339_1340dupGT	15.37:g.25966829_25966830dupAC	ENSP00000349325:p.Val447fs						p.V447fs	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	6	1446_1447	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	447					Q4G0S9|Q969I4	Frame_Shift_Ins	INS	ENST00000356865.6	37	c.1340_1341insGT	CCDS32178.1																																																																																				0.46	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		AC	25966827	-	AC	25966826	7	5	86	1	0	1	1	0	0	0	0	0	1116	1509	53	0	3218	0	ATP10A	15	25966826	Frame_Shift_Ins	INS	-	TCGA-06-5408-01A-01D-1696-08		25966826	76564566	48	5811											
CYP11A1	1583	broad.mit.edu	37	chr15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagcatctctgtgaCgttggccttgatgtcctcga	5	13	10	13	2	1	2	0	2	1	0	5	3	3	2	4	1	2	2	4	1	0	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:74635350C>T	ENST00000268053.6	-	5	1112	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CYP11A1_ENST00000419019.2_Missense_Mutation_p.V162I|CYP11A1_ENST00000358632.4_Missense_Mutation_p.V162I|CYP11A1_ENST00000541301.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	320					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	ATCTCTGTGACGTTGGCCTTG	0.602																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0		p.N319H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(958-960)Gtc>Atc		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						141	108	119					15																	74635350		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74635350C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.958G>A	15.37:g.74635350C>T	ENSP00000268053:p.Val320Ile					CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	p.V320I	NM_000781	NP_001093243	P05108	CP11A_HUMAN			4	1113	-			320					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.958G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069470	0.07228	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.71934	-0.61;-0.61;-0.61	4.46	-5.98	0.02220	.	0.400154	0.28589	N	0.014807	T	0.44705	0.1306	N	0.17345	0.48	0.20764	N	0.999856	B;B	0.18013	0.025;0.003	B;B	0.21360	0.034;0.024	T	0.43032	-0.9416	10	0.06365	T	0.9	-21.0828	14.4151	0.67145	0.0:0.5877:0.0:0.4123	.	290;320	B4DTE5;P05108	.;CP11A_HUMAN	I	320;162;162;85	ENSP00000268053:V320I;ENSP00000351455:V162I;ENSP00000405488:V162I	ENSP00000268053:V320I	V	-	1	0	CYP11A1	72422403	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.994000	0.03716	-1.199000	0.02666	0.442000	0.29010	GTC		0.602	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			T	74635350	C	T	74635350	3	4	86	1	0	0	0	0	1	0	0	0	4144	536	19	1	627	1	CYP11A1	15	74635350	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	48668524	74635350	27896042	49	5812											
WDR90	197335	broad.mit.edu	37	chr16	703407	703407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatcgtcgtcctgctcGtggacacgggggagcagcgc	5	7	16	13	6	1	0	1	0	0	0	5	2	2	2	1	4	3	2	1	4	0	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:703407G>A	ENST00000293879.4	+	11	1189	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	WDR90_ENST00000549091.1_Missense_Mutation_p.V397M|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	397										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTCCTGCTCGTGGACACGGG	0.701																																						uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1189-1191)Gtg>Atg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.							37	46	43					16																	703407		2078	4194	6272	SO:0001583	missense	197335							g.chr16:703407G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1189G>A	16.37:g.703407G>A	ENSP00000293879:p.Val397Met					WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	p.V397M	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			10	1243	+		Hepatocellular(780;0.0218)	397					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1189G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036745	0.54896	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01369	4.97;4.97	4.8	-9.61	0.00550	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	1.121530	0.07064	U	0.834285	T	0.04543	0.0124	M	0.83774	2.66	0.09310	N	0.999992	D;D;D	0.63046	0.992;0.987;0.992	P;P;P	0.56514	0.8;0.499;0.599	T	0.00172	-1.1958	10	0.49607	T	0.09	.	8.817	0.35002	0.5806:0.2354:0.184:0.0	.	397;398;397	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	397	ENSP00000448122:V397M;ENSP00000293879:V397M	ENSP00000293879:V397M	V	+	1	0	WDR90	643408	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.749000	0.04813	-2.552000	0.00479	-0.258000	0.10820	GTG		0.701	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	703407	G	A	703407	3	1	86	1	0	0	0	0	1	0	0	0	17334	1145	40	1	1231	1	WDR90	16	703407	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		703407	89651346	50	5813											
TMEM186	25880	broad.mit.edu	37	chr16	8890029	8890029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttcagatgggccaccCgcagcatggtgccagactca	11	6	12	12	1	2	3	2	0	0	3	2	3	2	3	3	2	2	3	3	2	1	1	rs563605311	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:8890029C>T	ENST00000333050.6	-	2	455	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	141						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATGGGCCACCCGCAGCATGGT	0.557													C|||	3	0.000599042	0	0	5008	,	,		20579	0		0	False		,,,				2504	0.0031					uc002cze.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(421-423)cGg>cAg		Homo sapiens transmembrane protein 186 (TMEM186), mRNA.							98	92	94					16																	8890029		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890029C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.422G>A	16.37:g.8890029C>T	ENSP00000331640:p.Arg141Gln					PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	p.R141Q	NM_015421	NP_056236	Q96B77	TM186_HUMAN			1	456	-			141					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.422G>A	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470604	0.63625	.	.	ENSG00000184857	ENST00000333050	T	0.45276	0.9	5.28	4.33	0.51752	.	0.205916	0.23966	N	0.042809	T	0.39989	0.1099	M	0.73962	2.25	0.80722	D	1	P	0.46952	0.887	B	0.39258	0.295	T	0.42413	-0.9453	10	0.66056	D	0.02	-4.984	7.4506	0.27235	0.0:0.7455:0.0:0.2545	.	141	Q96B77	TM186_HUMAN	Q	141	ENSP00000331640:R141Q	ENSP00000331640:R141Q	R	-	2	0	TMEM186	8797530	0.982000	0.34865	0.985000	0.45067	0.432000	0.31715	1.600000	0.36762	1.234000	0.43709	0.491000	0.48974	CGG		0.557	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		T	8890029	C	T	8890029	3	4	86	1	0	0	0	0	1	0	0	0	16105	652	23	2	223	2	TMEM186	16	8890029	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	8186622	8890029	81464724	51	5814											
MMP2	4313	broad.mit.edu	37	chr16	55525753	55525753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccacgagtttggccaCgccatggggctggagcactc	7	6	14	14	2	0	0	0	0	0	0	1	2	0	1	3	4	2	4	3	4	0	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:55525753C>T	ENST00000219070.4	+	8	1730	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	MMP2_ENST00000437642.2_Silent_p.H357H|MMP2_ENST00000570308.1_Silent_p.H331H|MMP2_ENST00000543485.1_Silent_p.H331H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	407	Collagenase-like 2.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGTTTGGCCACGCCATGGGGC	0.577																																						uc002ehz.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1219-1221)caC>caT		Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	Marimastat(DB00786)|Sulindac(DB00605)						66	63	64					16																	55525753		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525753C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1221C>T	16.37:g.55525753C>T						MMP2_uc010vhd.2_Silent_p.H331H|MMP2_uc010ccc.3_Silent_p.H357H	p.H407H	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1532	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	407			Collagenase-like 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1221C>T	CCDS10752.1																																																																																				0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			T	55525753	C	T	55525753	2	4	86	1	0	0	0	0	0	0	0	1	9658	535	19	1		1	MMP2	16	55525753	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	46635724	55525753	34829000	52	5815											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577120	C	T	7577120	3	4	86	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		7577120	73618090	53	5816											
GAS7	8522	broad.mit.edu	37	chr17	9822945	9822945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatccctgcccgcttaccaAtgtggtggtcaccatctctt	7	12	7	15	1	2	0	1	0	1	0	4	0	3	0	4	2	2	1	4	2	2	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:9822945A>G	ENST00000432992.2	-	12	1376	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Silent_p.L342L|GAS7_ENST00000585266.1_Silent_p.L346L|GAS7_ENST00000542249.1_Silent_p.L342L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Silent_p.L266L|GAS7_ENST00000437099.2_Silent_p.L342L|GAS7_ENST00000323816.4_Silent_p.L346L|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	406					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCGCTTACCAATGTGGTGGTC	0.567			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(1216-1218)Ttg>Ctg		Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.							201	173	183					17																	9822945		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9822945A>G	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1216T>C	17.37:g.9822945A>G						GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	p.L406L	NM_201433	NP_001124303	O60861	GAS7_HUMAN			11	1377	-			406					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.1216T>C	CCDS11152.1																																																																																				0.567	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		G	9822945	A	G	9822945	2	3	86	1	0	0	0	0	0	0	0	1	6250	98	4	4		4	GAS7	17	9822945	Silent	SNP	A	TCGA-06-5408-01A-01D-1696-08	2245825	9822945	71372265	54	5817											
NF1	4763	broad.mit.edu	37	chr17	29587504	29587504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactctggaacaatcaggaGaaaattgggcagtatctttc	13	11	9	8	0	3	1	1	0	2	1	4	3	3	2	0	3	2	2	0	3	6	4			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:29587504G>A	ENST00000358273.4	+	34	4931	c.4548G>A	c.(4546-4548)gaG>gaA	p.E1516E	NF1_ENST00000356175.3_Silent_p.E1495E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1516					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAATCAGGAGAAAATTGGGC	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4546-4548)gaG>gaA		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							161	152	155					17																	29587504		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29587504G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4548G>A	17.37:g.29587504G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	p.E1516E	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4931	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1516					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.4548G>A	CCDS42292.1																																																																																				0.388	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29587504	G	A	29587504	2	1	86	1	0	0	0	0	0	0	0	1	10356	933	33	3		3	NF1	17	29587504	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	19764559	29587504	51607706	55	5818											
KRT9	3857	broad.mit.edu	37	chr17	39724810	39724810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactcctggacaccgtgccGgagctgggtcacctccttgg	6	8	12	15	2	1	0	1	0	0	0	3	2	3	2	5	4	3	1	5	4	1	1	rs116216460	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:39724810G>A	ENST00000246662.4	-	5	1185	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	KRT9_ENST00000588431.1_Missense_Mutation_p.R141W	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	374	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACACCGTGCCGGAGCTGGGTC	0.547																																						uc002hxe.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1120-1122)Cgg>Tgg		Homo sapiens keratin 9 (KRT9), mRNA.		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	287	271	277		1120	0.6	0.1	17	dbSNP_132	277	17,8583	12.6+/-44.7	0,17,4283	yes	missense	KRT9	NM_000226.3	101	0,19,6484	AA,AG,GG		0.1977,0.0454,0.1461	probably-damaging	374/624	39724810	19,12987	2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724810G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1120C>T	17.37:g.39724810G>A	ENSP00000246662:p.Arg374Trp					JUP_uc010wfs.2_Intron	p.R374W	NM_000226	NP_000217	P35527	K1C9_HUMAN			4	1186	-		Breast(137;0.000307)	374			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1120C>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535278	0.64972	4.54E-4	0.001977	ENSG00000171403	ENST00000246662	D	0.92149	-2.98	5.15	0.585	0.17428	Filament (1);	0.304329	0.18190	N	0.148859	D	0.91202	0.7228	M	0.92649	3.33	0.09310	N	1	B	0.30236	0.274	B	0.26094	0.066	D	0.85544	0.1217	10	0.87932	D	0	.	4.1908	0.10419	0.2528:0.0:0.4257:0.3215	.	374	P35527	K1C9_HUMAN	W	374	ENSP00000246662:R374W	ENSP00000246662:R374W	R	-	1	2	KRT9	36978336	0.000000	0.05858	0.061000	0.19648	0.351000	0.29236	0.349000	0.20055	0.133000	0.18654	-0.224000	0.12420	CGG		0.547	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		A	39724810	G	A	39724810	3	1	86	1	0	0	0	0	1	0	0	0	8501	1115	39	2	763	2	KRT9	17	39724810	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	10137306	39724810	41470400	56	5819											
MUC16	94025	broad.mit.edu	37	chr19	9088857	9088857	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagaagtggcagaggtTgaaacagtggttgttgctga	12	9	17	3	0	0	5	0	2	0	3	0	7	0	5	0	3	2	5	0	3	2	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:9088857T>A	ENST00000397910.4	-	1	3161	c.2958A>T	c.(2956-2958)tcA>tcT	p.S986S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	986	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCAGAGGTTGAAACAGTGG	0.463																																						uc002mkp.3																			0		p.S986L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2956-2958)tcA>tcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							266	252	257					19																	9088857		1991	4163	6154	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088857T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2958A>T	19.37:g.9088857T>A							p.S986S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	3162	-			986			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2958A>T	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9088857	T	A	9088857	2	1	86	1	0	0	0	0	0	0	0	1	9973	1799	63	5		5	MUC16	19	9088857	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08		9088857	50040126	57	5820											
CYP4F12	66002	broad.mit.edu	37	chr19	15791225	15791225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggatactgctgagtggcGgtgacaagtggagccgccac	10	6	16	9	2	0	2	0	2	0	0	0	4	0	4	2	4	3	1	2	4	3	1	rs375976293		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:15791225G>A	ENST00000550308.1	+	5	801	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G141S	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	141					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTGAGTGGCGGTGACAAGTG	0.552													.|||	1	0.000199681	0	0	5008	,	,		19097	0.001		0	False		,,,				2504	0					uc002nbl.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(421-423)Ggt>Agt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.							26	31	29					19																	15791225		2202	4296	6498	SO:0001583	missense	66002							g.chr19:15791225G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.421G>A	19.37:g.15791225G>A	ENSP00000448998:p.Gly141Ser					CYP4F12_uc010xoo.2_Missense_Mutation_p.G141S|CYP4F12_uc010xop.2_Missense_Mutation_p.R172Q	p.G141S	NM_023944	NP_076433					4	540	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.421G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.995802	0.35226	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.84146	-1.81;-1.81	2.92	1.81	0.25067	.	0.075619	0.52532	U	0.000078	D	0.91895	0.7434	H	0.94542	3.55	0.28665	N	0.9059	D;P	0.65815	0.995;0.678	P;P	0.59825	0.864;0.51	D	0.86071	0.1538	10	0.72032	D	0.01	.	8.1676	0.31237	0.1311:0.0:0.8689:0.0	.	141;141	B4E270;Q9HCS2	.;CP4FC_HUMAN	S	141	ENSP00000448998:G141S;ENSP00000321821:G141S	ENSP00000321821:G141S	G	+	1	0	CYP4F12	15652225	1.000000	0.71417	0.048000	0.18961	0.003000	0.03518	7.064000	0.76721	0.514000	0.28300	0.491000	0.48974	GGT		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			A	15791225	G	A	15791225	3	1	86	1	0	0	0	0	1	0	0	0	4187	1116	39	2	435	2	CYP4F12	19	15791225	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	6702368	15791225	43337758	58	5821											
SLC5A4	6527	broad.mit.edu	37	chr22	32634986	32634986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaccagtggtggtgtaaAcagcagtcatagccaagagg	13	8	12	8	0	1	1	1	0	0	1	1	1	1	1	2	3	4	2	2	3	5	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:32634986A>G	ENST00000266086.4	-	6	580	c.569T>C	c.(568-570)gTt>gCt	p.V190A	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	190					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTGTAAACAGCAGTCAT	0.448																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(568-570)gTt>gCt		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.							175	137	150					22																	32634986		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32634986A>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.569T>C	22.37:g.32634986A>G	ENSP00000266086:p.Val190Ala						p.V190A	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			5	571	-			190					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.569T>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.391147	0.42410	.	.	ENSG00000100191	ENST00000266086	D	0.88124	-2.34	4.87	4.87	0.63330	Sodium/solute symporter, conserved site (1);	0.485922	0.22453	N	0.059861	T	0.80660	0.4665	N	0.21617	0.685	0.28727	N	0.9027	B	0.22414	0.069	B	0.29267	0.1	T	0.75941	-0.3140	10	0.56958	D	0.05	.	12.7449	0.57276	1.0:0.0:0.0:0.0	.	190	Q9NY91	SC5A4_HUMAN	A	190	ENSP00000266086:V190A	ENSP00000266086:V190A	V	-	2	0	SLC5A4	30964986	1.000000	0.71417	0.260000	0.24451	0.499000	0.33736	9.017000	0.93651	2.174000	0.68829	0.533000	0.62120	GTT		0.448	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		G	32634986	A	G	32634986	3	3	86	1	0	0	0	0	1	0	0	0	14667	43	2	4	1450	4	SLC5A4	22	32634986	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08		32634986	18669580	59	5822											
DNAJB7	150353	broad.mit.edu	37	chr22	41257669	41257669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcgagtcttcaaagaaGtgaaaagaaaatggatccct	17	8	9	7	1	3	3	2	1	1	2	4	5	4	4	1	1	1	0	1	1	7	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:41257669G>T	ENST00000307221.4	-	1	461	c.330C>A	c.(328-330)caC>caA	p.H110Q	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	110							chaperone binding (GO:0051087)	p.H110Q(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCAAAGAAGTGAAAAGAAA	0.388																																						uc003azj.3																			1	Substitution - Missense(1)	p.H110Q(2)	ovary(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(328-330)caC>caA		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.							81	86	84					22																	41257669		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257669G>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.330C>A	22.37:g.41257669G>T	ENSP00000307197:p.His110Gln					XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	p.H110Q	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			0	462	-			110					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.330C>A	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570995	0.28003	.	.	ENSG00000172404	ENST00000307221	T	0.73575	-0.76	4.7	1.46	0.22682	.	2.012990	0.02534	N	0.093880	T	0.72914	0.3520	M	0.70595	2.14	0.80722	D	1	B	0.15141	0.012	B	0.19148	0.024	T	0.53464	-0.8435	10	0.29301	T	0.29	.	6.229	0.20724	0.6527:0.0:0.3473:0.0	.	110	Q7Z6W7	DNJB7_HUMAN	Q	110	ENSP00000307197:H110Q	ENSP00000307197:H110Q	H	-	3	2	DNAJB7	39587615	0.002000	0.14202	0.944000	0.38274	0.500000	0.33767	-0.199000	0.09491	0.348000	0.23949	0.591000	0.81541	CAC		0.388	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		T	41257669	G	T	41257669	3	4	86	1	0	0	0	0	1	0	0	0	4625	1020	36	5	603	5	DNAJB7	22	41257669	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	8622683	41257669	10046897	60	5823											
MST4	51765	broad.mit.edu	37	chrX	131205232	131205232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgatgaatctgattccGagggctctgattcgtatgta	9	14	12	6	2	2	5	0	5	2	0	4	6	3	5	1	1	0	3	1	1	3	4			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chrX:131205232G>A	ENST00000354719.6	+	8	1135	c.919G>A	c.(919-921)Gag>Aag	p.E307K	MST4_ENST00000496850.1_Missense_Mutation_p.E245K|MST4_ENST00000394334.2_Missense_Mutation_p.E307K|MST4_ENST00000481105.1_Missense_Mutation_p.E329K|MST4_ENST00000394335.2_Missense_Mutation_p.E230K																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATCTGATTCCGAGGGCTCTGA	0.348																																						uc004ewk.1																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(919-921)Gag>Aag		Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.							119	118	118					X																	131205232		2203	4300	6503	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131205232G>A																												ENST00000354719.6:c.919G>A	X.37:g.131205232G>A	ENSP00000346755:p.Glu307Lys					MST4_uc004ewl.1_Missense_Mutation_p.E230K|MST4_uc011mux.1_Missense_Mutation_p.E329K|MST4_uc010nrj.1_Missense_Mutation_p.E307K|MST4_uc004ewm.1_Missense_Mutation_p.E245K	p.E307K	NM_016542	NP_057626	Q9P289	MST4_HUMAN			7	1220	+	Acute lymphoblastic leukemia(192;0.000127)		307						Missense_Mutation	SNP	ENST00000354719.6	37	c.919G>A		.	.	.	.	.	.	.	.	.	.	G	17.77	3.471673	0.63737	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.99	5.99	0.97316	.	0.169967	0.39615	N	0.001312	T	0.27489	0.0675	L	0.55213	1.73	0.58432	D	0.999998	B;P;P;P;B	0.43431	0.105;0.488;0.67;0.807;0.323	B;B;B;B;B	0.35655	0.015;0.094;0.145;0.207;0.064	T	0.02813	-1.1107	10	0.40728	T	0.16	.	19.4045	0.94643	0.0:0.0:1.0:0.0	.	329;307;245;230;307	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	K	307;329;307;230;245	ENSP00000377867:E307K;ENSP00000418753:E329K;ENSP00000346755:E307K;ENSP00000377868:E230K;ENSP00000419702:E245K	ENSP00000346755:E307K	E	+	1	0	AL109749.1	131032913	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	8.982000	0.93471	2.536000	0.85505	0.600000	0.82982	GAG		0.348	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			A	131205232	G	A	131205232	3	1	86	1	0	0	0	0	1	0	0	0	9892	1059	37	2	945	2	MST4	23	131205232	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		131205232	24065328	61	5824											
C1orf112	55732	broad.mit.edu	37	chr1	169772375	169772375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgccacacaggaatcCatcattttggaaaatattca	14	12	6	9	0	3	0	2	0	1	0	4	2	4	2	2	2	1	0	2	2	4	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr1:169772375C>T	ENST00000286031.6	+	5	937	c.237C>T	c.(235-237)tcC>tcT	p.S79S	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000456684.1_Silent_p.S137S|C1orf112_ENST00000413811.2_Silent_p.S50S|C1orf112_ENST00000359326.4_Silent_p.S79S	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	79										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGGAATCCATCATTTTGG	0.378																																						uc001ggq.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(235-237)tcC>tcT		Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.							74	70	72					1																	169772375		2203	4300	6503	SO:0001819	synonymous_variant	55732							g.chr1:169772375C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.237C>T	1.37:g.169772375C>T						C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggo.3_Silent_p.S79S|C1orf112_uc001ggp.3_Silent_p.S79S|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.S50S|C1orf112_uc009wvu.1_Silent_p.S50S|C1orf112_uc001ggr.3_5'UTR|C1orf112_uc010plv.2_Silent_p.S21S	p.S79S	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			4	937	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		79					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	c.237C>T	CCDS1285.1																																																																																				0.378	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		T	169772375	C	T	169772375	2	4	87	1	0	0	0	0	0	0	0	1	1985	581	21	3		3	C1orf112	1	169772375	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		169772375	79478246	1	5825											
LY75	4065	broad.mit.edu	37	chr2	160755280	160755280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgagattgctgtgccatGtccatccttcagagccagcc	8	12	9	12	0	1	2	1	1	0	2	3	3	3	2	5	0	4	1	5	0	0	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr2:160755280G>A	ENST00000263636.4	-	2	412	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	LY75_ENST00000554112.1_Missense_Mutation_p.H129Y|LY75_ENST00000553424.1_Missense_Mutation_p.H129Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H129Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H129Y	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	129	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCTGTGCCATGTCCATCCTTC	0.522																																						uc002ubb.4																			0											c.(385-387)Cat>Tat		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.							90	82	84					2																	160755280		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755280G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.385C>T	2.37:g.160755280G>A	ENSP00000263636:p.His129Tyr					LY75-CD302_uc010fos.3_Missense_Mutation_p.H129Y|LY75-CD302_uc002ubc.4_Missense_Mutation_p.H129Y|LY75-CD302_uc010fot.2_Missense_Mutation_p.H129Y	p.H129Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN			1	459	-			129			Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.385C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.450278	0.00175	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.92	1.62	0.23740	Ricin B-related lectin (1);Ricin B lectin (1);	0.499688	0.15013	N	0.285447	T	0.14657	0.0354	N	0.11201	0.11	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.25222	-1.0138	10	0.02654	T	1	-6.0642	0.3453	0.00340	0.2326:0.2382:0.2775:0.2517	.	129;129;129	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Y	129	ENSP00000451511:H129Y;ENSP00000451446:H129Y;ENSP00000263636:H129Y;ENSP00000423463:H129Y;ENSP00000421035:H129Y	ENSP00000423463:H129Y	H	-	1	0	LY75;LY75-CD302	160463526	0.000000	0.05858	0.292000	0.24919	0.008000	0.06430	0.149000	0.16243	0.309000	0.22966	0.655000	0.94253	CAT		0.522	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160755280	G	A	160755280	3	1	87	1	0	0	0	0	1	0	0	0	9099	1377	48	3	4919	3	LY75	2	160755280	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		160755280	82444093	2	5826											
SI	6476	broad.mit.edu	37	chr3	164786544	164786544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgggtgtctgattttgaGttgtgaagagaacactgttg	9	15	14	3	0	1	4	0	3	1	1	1	6	1	4	0	1	1	2	0	1	2	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:164786544G>T	ENST00000264382.3	-	5	511	c.449C>A	c.(448-450)aCt>aAt	p.T150N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	150	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGATTTTGAGTTGTGAAGAG	0.393										HNSCC(35;0.089)																												uc003fei.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(448-450)aCt>aAt		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)						132	135	134					3																	164786544		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786544G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.449C>A	3.37:g.164786544G>T	ENSP00000264382:p.Thr150Asn	HNSCC(35;0.089)					p.T150N	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	512	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	150			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.449C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551008	0.45383	.	.	ENSG00000090402	ENST00000264382	D	0.85339	-1.97	5.67	5.67	0.87782	Glycoside hydrolase-type carbohydrate-binding (1);	0.152091	0.56097	D	0.000023	D	0.90079	0.6901	M	0.82923	2.615	0.37880	D	0.93034	D	0.55605	0.972	P	0.51385	0.668	D	0.91713	0.5383	10	0.51188	T	0.08	.	17.0843	0.86606	0.0:0.1265:0.8735:0.0	.	150	P14410	SUIS_HUMAN	N	150	ENSP00000264382:T150N	ENSP00000264382:T150N	T	-	2	0	SI	166269238	1.000000	0.71417	0.966000	0.40874	0.040000	0.13550	3.870000	0.56070	2.835000	0.97688	0.591000	0.81541	ACT		0.393	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164786544	G	T	164786544	3	4	87	1	0	0	0	0	1	0	0	0	14297	1029	36	5	5210	5	SI	3	164786544	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		164786544	33235886	3	5827											
PYDC2	152138	broad.mit.edu	37	chr3	191179074	191179074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaaggagctacagacCgtcccccagacagaggtaga	13	4	13	11	1	0	4	0	0	0	4	1	6	1	6	3	3	2	2	3	3	3	2	rs141891926	byFrequency	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:191179074C>T	ENST00000518817.1	+	1	123	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	41	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCTACAGACCGTCCCCCAGA	0.542													C|||	14	0.00279553	0.0098	0	5008	,	,		15104	0.001		0	False		,,,				2504	0					uc011bso.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(121-123)acC>acT		Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.		C		33,4367	36.0+/-67.5	0,33,2167	77	85	82		123	-1.2	0	3	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	PYDC2	NM_001083308.1		0,33,6467	TT,TC,CC		0.0,0.75,0.2538		41/98	191179074	33,12967	2200	4300	6500	SO:0001819	synonymous_variant	152138					cytoplasm|nucleus		g.chr3:191179074C>T			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.123C>T	3.37:g.191179074C>T							p.T41T	NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN			0	123	+			41			DAPIN.			Silent	SNP	ENST00000518817.1	37	c.123C>T																																																																																					0.542	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		T	191179074	C	T	191179074	2	4	87	1	0	0	0	0	0	0	0	1	12859	639	23	2		2	PYDC2	3	191179074	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	26392530	191179074	6843356	4	5828											
KLHL5	51088	broad.mit.edu	37	chr4	39116788	39116788	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttacagatatgatccCaaaacagacatgtggactgc	13	12	7	9	0	1	3	0	1	1	2	2	4	2	4	1	1	3	0	1	1	4	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:39116788C>G	ENST00000504108.1	+	10	2332	c.2049C>G	c.(2047-2049)ccC>ccG	p.P683P	KLHL5_ENST00000508137.2_Silent_p.P496P|KLHL5_ENST00000381930.3_Silent_p.P683P|KLHL5_ENST00000261425.3_Silent_p.P637P|KLHL5_ENST00000261426.5_Silent_p.P622P|KLHL5_ENST00000359687.2_Silent_p.P683P|RP11-360F5.1_ENST00000509449.1_RNA	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	683						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATATGATCCCAAAACAGACA	0.383																																						uc003gtr.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2047-2049)ccC>ccG		Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.							72	69	70					4																	39116788		2203	4300	6503	SO:0001819	synonymous_variant	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39116788C>G	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2049C>G	4.37:g.39116788C>G						KLHL5_uc003gtp.3_Silent_p.P637P|KLHL5_uc003gtq.3_Silent_p.P496P|KLHL5_uc003gts.3_Silent_p.P683P|KLHL5_uc003gtt.3_Silent_p.P622P	p.P683P	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			9	2332	+			683					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	c.2049C>G	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947253	0.18356	.	.	ENSG00000109790	ENST00000515612	.	.	.	6.06	-0.622	0.11560	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	.	4.0483	0.09783	0.0976:0.475:0.0958:0.3316	.	.	.	.	E	195	.	.	Q	+	1	0	KLHL5	38793183	0.027000	0.19231	0.999000	0.59377	0.998000	0.95712	-0.832000	0.04400	0.111000	0.17947	0.655000	0.94253	CAA		0.383	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			G	39116788	C	G	39116788	2	3	87	1	0	0	0	0	0	0	0	1	8392	581	21	5		5	KLHL5	4	39116788	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		39116788	152037488	5	5829											
GPRIN3	285513	broad.mit.edu	37	chr4	90170302	90170302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccactgcctgcacctcCgcatcttgccaagccctgct	5	9	7	20	2	1	0	0	0	1	0	3	0	2	0	6	0	5	3	6	0	1	1	rs145721148	byFrequency	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:90170302C>T	ENST00000609438.1	-	2	1478	c.960G>A	c.(958-960)gcG>gcA	p.A320A	GPRIN3_ENST00000333209.4_Silent_p.A320A	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	320										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCACCTCCGCATCTTGCC	0.537													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19868	0		0	False		,,,				2504	0					uc003hsm.1																			0		p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(958-960)gcG>gcA		Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.		C		16,4390	23.3+/-48.9	0,16,2187	101	94	97		960	-11.3	0	4	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	GPRIN3	NM_198281.2		0,16,6487	TT,TC,CC		0.0,0.3631,0.123		320/777	90170302	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90170302C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.960G>A	4.37:g.90170302C>T						GPRIN3_uc021xqb.1_Silent_p.A320A	p.A320A	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	1	1479	-		Hepatocellular(203;0.114)	320					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.960G>A	CCDS34030.1																																																																																				0.537	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90170302	C	T	90170302	2	4	87	1	0	0	0	0	0	0	0	1	6731	639	23	2		2	GPRIN3	4	90170302	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	51053514	90170302	100983974	6	5830											
HEATR7B2	133558	broad.mit.edu	37	chr5	41048449	41048449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgcagaagctcaGgtaaacgtgttttccatagg	11	9	12	9	1	1	2	1	0	0	2	2	2	2	2	2	3	3	5	2	3	4	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:41048449G>A	ENST00000399564.4	-	16	2111	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	MROH2B_ENST00000506092.2_Missense_Mutation_p.P109L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	554																	CAGAAGCTCAGGTAAACGTGT	0.468																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1660-1662)cCt>cTt		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							135	128	130					5																	41048449		1890	4120	6010	SO:0001583	missense	133558						binding	g.chr5:41048449G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1661C>T	5.37:g.41048449G>A	ENSP00000382476:p.Pro554Leu					HEATR7B2_uc003jmi.4_Missense_Mutation_p.P109L	p.P554L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			15	2151	-			554					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1661C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505305	0.64410	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.10192	2.9;2.9	4.76	4.76	0.60689	Armadillo-type fold (1);	0.000000	0.53938	D	0.000042	T	0.28433	0.0703	L	0.60845	1.875	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.00373	-1.1781	10	0.62326	D	0.03	.	13.4769	0.61314	0.0:0.0:1.0:0.0	.	554	Q7Z745	HTRB2_HUMAN	L	109;258;554	ENSP00000441504:P109L;ENSP00000382476:P554L	ENSP00000296803:P258L	P	-	2	0	HEATR7B2	41084206	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	4.177000	0.58276	2.625000	0.88918	0.655000	0.94253	CCT		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		A	41048449	G	A	41048449	3	1	87	1	0	0	0	0	1	0	0	0	7035	1000	35	3	3204	3	HEATR7B2	5	41048449	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		41048449	139866811	7	5831											
KCTD16	57528	broad.mit.edu	37	chr5	143853547	143853547	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaaaaaaaagctgttaAagaaaagctctcaattgagg	20	7	8	6	0	1	2	1	1	1	1	2	2	1	2	0	1	3	4	0	1	9	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:143853547A>C	ENST00000507359.3	+	3	2248	c.1157A>C	c.(1156-1158)aAa>aCa	p.K386T	KCTD16_ENST00000512467.1_Missense_Mutation_p.K386T	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	386					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AAAGCTGTTAAAGAAAAGCTC	0.443																																						uc003lnm.1																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1156-1158)aAa>aCa		Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.							59	69	65					5																	143853547		2201	4300	6501	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853547A>C	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1157A>C	5.37:g.143853547A>C	ENSP00000426548:p.Lys386Thr					KCTD16_uc003lnn.1_Missense_Mutation_p.K386T	p.K386T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	1786	+		all_hematologic(541;0.118)	386					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1157A>C	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175100	0.38413	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.45668	0.89;0.89	6.17	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	N	0.08118	0	0.49051	D	0.999745	D	0.61697	0.99	P	0.57101	0.813	T	0.28996	-1.0026	10	0.34782	T	0.22	.	12.919	0.58222	0.8782:0.0:0.0:0.1218	.	386	Q68DU8	KCD16_HUMAN	T	386	ENSP00000424151:K386T;ENSP00000426548:K386T	ENSP00000426548:K386T	K	+	2	0	KCTD16	143833740	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.855000	0.92236	1.134000	0.42165	0.533000	0.62120	AAA		0.443	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		C	143853547	A	C	143853547	3	2	87	1	0	0	0	0	1	0	0	0	8103	14	1	5	1163	5	KCTD16	5	143853547	Missense_Mutation	SNP	A	TCGA-06-5410-01A-01D-1696-08	102805098	143853547	37061713	8	5832											
UNC5A	90249	broad.mit.edu	37	chr5	176301527	176301527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacatgacctatgggacCttcaacttcctcgggggccg	9	8	11	13	2	1	1	1	1	0	0	3	2	2	2	4	3	3	1	4	3	3	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:176301527C>T	ENST00000329542.4	+	8	1612	c.1338C>T	c.(1336-1338)acC>acT	p.T446T	UNC5A_ENST00000261961.3_Silent_p.T406T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	446	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTATGGGACCTTCAACTTCC	0.627																																						uc003mey.3																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1336-1338)acC>acT		Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.							90	100	96					5																	176301527		2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301527C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1338C>T	5.37:g.176301527C>T						UNC5A_uc010jkg.1_Silent_p.T406T	p.T446T	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1530	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	446			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1338C>T	CCDS34299.1																																																																																				0.627	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		T	176301527	C	T	176301527	2	4	87	1	0	0	0	0	0	0	0	1	16988	668	24	3		3	UNC5A	5	176301527	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	32447980	176301527	4613733	9	5833											
GRM3	2913	broad.mit.edu	37	chr7	86469103	86469103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgtacgccttcaaaaCgcggaagtgcccagaaaatt	13	8	9	11	3	1	1	1	0	0	1	1	2	1	2	2	1	3	1	2	1	6	3	rs141671463		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:86469103C>T	ENST00000361669.2	+	4	3372	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M	GRM3_ENST00000536043.1_Missense_Mutation_p.T630M|GRM3_ENST00000546348.1_Missense_Mutation_p.T350M|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	758					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.T758M(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCCTTCAAAACGCGGAAGTGC	0.428																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			1	Substitution - Missense(1)	p.T758M(2)	central_nervous_system(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2272-2274)aCg>aTg		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)	C	MET/THR	0,4406		0,0,2203	117	102	107		2273	5.5	1	7	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM3	NM_000840.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	758/880	86469103	1,13005	2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86469103C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2273C>T	7.37:g.86469103C>T	ENSP00000355316:p.Thr758Met					GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.T630M|GRM3_uc010leh.3_Missense_Mutation_p.T350M	p.T758M	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	3372	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		758					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2273C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474192	0.63737	0.0	1.16E-4	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89485	-2.52;-2.52;-2.52	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96693	0.9512	10	0.87932	D	0	.	18.4662	0.90755	0.0:1.0:0.0:0.0	.	350;630;758	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	M	758;350;630	ENSP00000355316:T758M;ENSP00000444064:T350M;ENSP00000441407:T630M	ENSP00000355316:T758M	T	+	2	0	GRM3	86307039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.603000	0.88011	0.563000	0.77884	ACG		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86469103	C	T	86469103	3	4	87	1	0	0	0	0	1	0	0	0	6798	536	19	1	2283	1	GRM3	7	86469103	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08		86469103	72669560	10	5834											
CYP3A5	1577	broad.mit.edu	37	chr7	99262902	99262902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttcactccaaatgatgtgCcagtaatcacatccatgctg	11	12	7	11	0	2	1	2	1	0	0	4	1	4	1	3	0	2	3	3	0	2	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:99262902C>G	ENST00000222982.4	-	7	656	c.557G>C	c.(556-558)gGc>gCc	p.G186A	CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.G176A	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	186					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AAATGATGTGCCAGTAATCAC	0.418																																						uc003urq.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(556-558)gGc>gCc		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.							168	146	154					7																	99262902		2203	4300	6503	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99262902C>G	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.557G>C	7.37:g.99262902C>G	ENSP00000222982:p.Gly186Ala					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G73A|CYP3A7_uc011kiy.2_Missense_Mutation_p.G176A|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	p.G186A	NM_000777	NP_000768	P24462	CP3A7_HUMAN			6	659	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		186					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.557G>C	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133091	0.21041	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.66995	-0.24;-0.24	3.83	1.85	0.25348	.	0.118586	0.85682	N	0.000000	T	0.44498	0.1296	N	0.10645	0.015	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.24083	-1.0170	10	0.51188	T	0.08	.	11.2806	0.49192	0.0:0.6429:0.3571:0.0	.	176;186	F5H4S0;P20815	.;CP3A5_HUMAN	A	186;176	ENSP00000222982:G186A;ENSP00000342969:G176A	ENSP00000222982:G186A	G	-	2	0	CYP3A5	99100838	0.997000	0.39634	0.222000	0.23844	0.394000	0.30568	3.559000	0.53756	0.172000	0.19760	-0.181000	0.13052	GGC		0.418	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			G	99262902	C	G	99262902	3	3	87	1	0	0	0	0	1	0	0	0	4180	739	26	5	979	5	CYP3A5	7	99262902	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	12793799	99262902	59875761	11	5835											
PIP	5304	broad.mit.edu	37	chr7	142836647	142836647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgtcgttgatgttattcGggaattaggcatctgccctg	7	13	12	9	3	1	1	0	1	1	0	3	2	1	2	2	2	2	3	2	2	3	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:142836647G>A	ENST00000291009.3	+	4	393	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453																																						uc003wcf.1																			1	Substitution - Missense(1)	p.R118L(2)|p.R118R(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(352-354)cGg>cAg		Homo sapiens prolactin-induced protein (PIP), mRNA.							165	157	159					7																	142836647		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142836647G>A		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.353G>A	7.37:g.142836647G>A	ENSP00000291009:p.Arg118Gln						p.R118Q	NM_002652	NP_002643	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	3	389	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	118					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.353G>A	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.763881	0.31228	.	.	ENSG00000159763	ENST00000291009	T	0.14022	2.54	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.08492	0.0211	M	0.65975	2.015	0.09310	N	1	P	0.48089	0.905	B	0.24974	0.057	T	0.33420	-0.9869	10	0.25106	T	0.35	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	Q	118	ENSP00000291009:R118Q	ENSP00000291009:R118Q	R	+	2	0	PIP	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG		0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		A	142836647	G	A	142836647	3	1	87	1	0	0	0	0	1	0	0	0	11935	1116	39	2	367	2	PIP	7	142836647	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	43573745	142836647	16302016	12	5836											
DMRT3	58524	broad.mit.edu	37	chr9	990484	990484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcagagcgaacttccGcagaacctgagagtctagcg	11	5	14	11	4	1	3	0	1	1	3	2	6	2	4	2	1	5	2	2	1	3	2	rs569551719		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr9:990484G>A	ENST00000190165.2	+	2	936	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	300					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCGAACTTCCGCAGAACCTGA	0.582													G|||	1	0.000199681	0	0	5008	,	,		17348	0		0	False		,,,				2504	0.001					uc003zgw.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(898-900)Gca>Aca		Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.							112	99	103					9																	990484		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990484G>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.898G>A	9.37:g.990484G>A	ENSP00000190165:p.Ala300Thr						p.A300T	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	936	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	300					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.898G>A	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	0.259	-1.001105	0.02128	.	.	ENSG00000064218	ENST00000190165	T	0.22945	1.93	4.82	-0.683	0.11335	.	0.563471	0.18677	N	0.134271	T	0.08179	0.0204	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.04013	0.001	T	0.25467	-1.0131	10	0.13853	T	0.58	-5.7403	1.3835	0.02235	0.2056:0.1081:0.3604:0.3258	.	300	Q9NQL9	DMRT3_HUMAN	T	300	ENSP00000190165:A300T	ENSP00000190165:A300T	A	+	1	0	DMRT3	980484	0.042000	0.20092	0.001000	0.08648	0.005000	0.04900	0.306000	0.19279	-0.113000	0.11958	-0.384000	0.06662	GCA		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		A	990484	G	A	990484	3	1	87	1	0	0	0	0	1	0	0	0	4587	1087	38	1	904	1	DMRT3	9	990484	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		990484	140222947	13	5837											
DLG5	9231	broad.mit.edu	37	chr10	79566617	79566617	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggtaaggtgtcatcCacgtagaggatgtcgtcctt	7	11	13	10	2	1	1	1	0	0	1	4	2	3	2	3	4	0	2	3	4	2	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr10:79566617C>A	ENST00000372391.2	-	26	4871	c.4866G>T	c.(4864-4866)gtG>gtT	p.V1622V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.V1282V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1622	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGTGTCATCCACGTAGAGGA	0.572																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4864-4866)gtG>gtT		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							154	133	140					10																	79566617		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79566617C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4866G>T	10.37:g.79566617C>A						DLG5_uc001jzi.3_Silent_p.V377V|DLG5_uc001jzj.3_Silent_p.V1037V|DLG5_uc009xru.1_Non-coding_Transcript	p.V1622V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		25	4936	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1622			SH3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4866G>T	CCDS7353.2																																																																																				0.572	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79566617	C	A	79566617	2	1	87	1	0	0	0	0	0	0	0	1	4558	581	21	5		5	DLG5	10	79566617	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		79566617	55968130	14	5838											
OR8H2	390151	broad.mit.edu	37	chr11	55873242	55873242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagctttctctacttgcGtctctcatctcttgggagtc	7	15	8	11	1	4	1	1	0	3	1	8	2	4	2	0	1	3	1	0	1	2	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:55873242G>A	ENST00000313503.1	+	1	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V242I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTACTTGCGTCTCTCATCT	0.383										HNSCC(53;0.14)																												uc010riy.2																			1	Substitution - Missense(1)	p.V242I(2)|p.C241*(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(724-726)Gtc>Atc		Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.							104	101	102					11																	55873242		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873242G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.724G>A	11.37:g.55873242G>A	ENSP00000323982:p.Val242Ile	HNSCC(53;0.14)					p.V242I	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			0	724	+	Esophageal squamous(21;0.00693)		242					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.724G>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	3.023	-0.201304	0.06219	.	.	ENSG00000181767	ENST00000313503	T	0.37584	1.19	3.35	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.382752	0.22692	N	0.056807	T	0.18882	0.0453	N	0.17838	0.53	0.09310	N	1	B	0.30526	0.283	B	0.29862	0.108	T	0.14952	-1.0454	10	0.72032	D	0.01	.	2.714	0.05182	0.1709:0.1414:0.5425:0.1452	.	242	Q8N162	OR8H2_HUMAN	I	242	ENSP00000323982:V242I	ENSP00000323982:V242I	V	+	1	0	OR8H2	55629818	0.000000	0.05858	0.341000	0.25589	0.081000	0.17604	-1.608000	0.02068	0.170000	0.19704	-0.908000	0.02827	GTC		0.383	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		A	55873242	G	A	55873242	3	1	87	1	0	0	0	0	1	0	0	0	11238	1145	40	1	726	1	OR8H2	11	55873242	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		55873242	79133274	15	5839											
GLYATL2	219970	broad.mit.edu	37	chr11	58602091	58602091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatgttgccttggtgtctGtatttggggacagtataacc	9	14	11	7	0	1	0	0	0	1	0	1	1	1	1	2	3	3	3	2	3	4	6			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:58602091G>A	ENST00000287275.1	-	6	1086	c.696C>T	c.(694-696)taC>taT	p.Y232Y	GLYATL2_ENST00000532258.1_Silent_p.Y232Y|GLYATL2_ENST00000533636.1_5'Flank	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	232						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTTGGTGTCTGTATTTGGGGA	0.413																																						uc001nnd.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(694-696)taC>taT		Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	Glycine(DB00145)						102	102	102					11																	58602091		2068	4216	6284	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602091G>A	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.696C>T	11.37:g.58602091G>A						GLYATL2_uc009ymq.3_Silent_p.Y232Y	p.Y232Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			5	827	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	232					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.696C>T	CCDS41649.1																																																																																				0.413	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		A	58602091	G	A	58602091	2	1	87	1	0	0	0	0	0	0	0	1	6481	1372	48	3		3	GLYATL2	11	58602091	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	2728849	58602091	76404425	16	5840											
CTTN	2017	broad.mit.edu	37	chr11	70279266	70279266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgagtgggacggagccGgagcccgtgtacagcatgga	8	6	17	10	3	0	1	0	1	0	0	0	5	0	5	3	4	4	2	3	4	1	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:70279266G>A	ENST00000301843.8	+	16	1532	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	CTTN_ENST00000376561.3_Silent_p.P405P|CTTN_ENST00000538675.1_Silent_p.P126P|CTTN_ENST00000346329.3_Silent_p.P405P	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	442					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGACGGAGCCGGAGCCCGTGT	0.652																																						uc001opv.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1324-1326)ccG>ccA		Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.							48	50	49					11																	70279266		2200	4294	6494	SO:0001819	synonymous_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70279266G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1326G>A	11.37:g.70279266G>A						CTTN_uc001opu.3_Silent_p.P405P|CTTN_uc001opw.4_Silent_p.P405P|CTTN_uc010rqm.2_Silent_p.P126P|CTTN_uc001opx.3_Silent_p.P126P	p.P442P	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	15	1532	+			442					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1326G>A	CCDS41680.1																																																																																				0.652	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		A	70279266	G	A	70279266	2	1	87	1	0	0	0	0	0	0	0	1	4044	1103	39	2		2	CTTN	11	70279266	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	11677175	70279266	64727250	17	5841											
DYNC2H1	79659	broad.mit.edu	37	chr11	103014114	103014114	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaggggaaagaagtagaaCgacttccaaggtattggagg	16	7	14	4	1	0	2	0	0	0	2	1	5	1	4	1	5	1	2	1	5	8	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:103014114C>T	ENST00000375735.2	+	18	2836	c.2692C>T	c.(2692-2694)Cga>Tga	p.R898*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R898*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	898	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAGTAGAACGACTTCCAAG	0.363																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(2692-2694)Cga>Tga		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							73	72	72					11																	103014114		1844	4086	5930	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103014114C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2692C>T	11.37:g.103014114C>T	ENSP00000364887:p.Arg898*					DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Nonsense_Mutation_p.R898*	p.R898*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	17	2836	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	898			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.2692C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	41	8.921098	0.99004	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.35	5.35	0.76521	.	0.599767	0.13264	U	0.401078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	.	.	.	X	898	.	ENSP00000364887:R898X	R	+	1	2	DYNC2H1	102519324	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.540000	0.67205	2.525000	0.85131	0.460000	0.39030	CGA		0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103014114	C	T	103014114	4	4	87	1	0	0	0	0	0	1	0	0	4846	528	19	1	2762	1	DYNC2H1	11	103014114	Nonsense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	32734848	103014114	31992402	18	5842											
BCL2L14	79370	broad.mit.edu	37	chr12	12232401	12232401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagaacaagaagtttgtcCcagaggggcctggggaattg	11	8	15	7	0	0	3	0	1	0	3	1	5	1	4	2	4	1	1	2	4	4	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:12232401C>T	ENST00000308721.5	+	2	368	c.162C>T	c.(160-162)tcC>tcT	p.S54S	BCL2L14_ENST00000589718.1_Silent_p.S54S|BCL2L14_ENST00000586576.1_Silent_p.S87S|BCL2L14_ENST00000266434.4_Silent_p.S54S|BCL2L14_ENST00000396369.1_Silent_p.S54S|BCL2L14_ENST00000396367.1_Silent_p.S54S	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	54					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.S54S(1)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GAAGTTTGTCCCAGAGGGGCC	0.488																																						uc001rac.3																			1	Substitution - coding silent(1)	p.S54S(2)	skin(1)	large_intestine(1)|lung(2)|skin(3)	6						c.(160-162)tcC>tcT		Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.							54	54	54					12																	12232401		2203	4300	6503	SO:0001819	synonymous_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12232401C>T	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.162C>T	12.37:g.12232401C>T						ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Silent_p.S54S|BCL2L14_uc001rae.3_Silent_p.S54S	p.S54S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	1	363	+		Prostate(47;0.0872)	54					A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	c.162C>T	CCDS8645.1																																																																																				0.488	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		T	12232401	C	T	12232401	2	4	87	1	0	0	0	0	0	0	0	1	1372	610	22	3		3	BCL2L14	12	12232401	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		12232401	121619494	19	5843											
LIMA1	51474	broad.mit.edu	37	chr12	50575756	50575756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggttggccaagagaCgctccattggatagactgtc	8	10	12	11	1	0	2	0	0	0	2	2	4	1	3	3	3	1	3	3	3	2	3	rs200141288		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:50575756C>T	ENST00000341247.4	-	10	1354	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	LIMA1_ENST00000394943.3_Missense_Mutation_p.R403H|LIMA1_ENST00000552491.1_Missense_Mutation_p.R99H|LIMA1_ENST00000552823.1_Missense_Mutation_p.R242H|LIMA1_ENST00000552909.1_Missense_Mutation_p.R241H|LIMA1_ENST00000547825.1_Missense_Mutation_p.R100H|LIMA1_ENST00000552783.1_Missense_Mutation_p.R243H	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	402	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGCCAAGAGACGCTCCATTGG	0.473																																						uc001rwj.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(1204-1206)cGt>cAt		Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	109	99	102		1208,728,1205	5.5	1	12		102	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LIMA1	NM_001113546.1,NM_001113547.1,NM_016357.4	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	403/761,243/601,402/760	50575756	2,13004	2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50575756C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1205G>A	12.37:g.50575756C>T	ENSP00000340184:p.Arg402His					LIMA1_uc001rwg.4_Missense_Mutation_p.R100H|LIMA1_uc001rwh.4_Missense_Mutation_p.R241H|LIMA1_uc001rwi.4_Missense_Mutation_p.R243H|LIMA1_uc001rwk.4_Missense_Mutation_p.R403H|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	p.R402H	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN			9	1379	-			402			LIM zinc-binding.		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1205G>A	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004126	0.93287	0.0	2.33E-4	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.49	5.49	0.81192	Zinc finger, LIM-type (5);	0.099034	0.64402	D	0.000002	D	0.94823	0.8328	M	0.88031	2.925	0.48236	D	0.999615	D;D;D	0.89917	0.989;1.0;0.976	P;D;P	0.91635	0.777;0.999;0.868	D	0.95082	0.8214	10	0.72032	D	0.01	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	412;402;241	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	H	99;100;242;403;402;243;241;321	ENSP00000448463:R99H;ENSP00000448706:R100H;ENSP00000450266:R242H;ENSP00000378400:R403H;ENSP00000340184:R402H;ENSP00000448779:R243H;ENSP00000450087:R241H	ENSP00000340184:R402H	R	-	2	0	LIMA1	48862023	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.716000	0.54904	2.746000	0.94184	0.655000	0.94253	CGT		0.473	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		T	50575756	C	T	50575756	3	4	87	1	0	0	0	0	1	0	0	0	8796	536	19	1	1082	1	LIMA1	12	50575756	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	38343355	50575756	83276139	20	5844											
DGKA	1606	broad.mit.edu	37	chr12	56330335	56330335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgattttgcccagctGcaaaaatacatggaatgtga	13	10	9	9	0	0	2	0	2	0	0	0	3	0	3	2	1	4	2	2	1	4	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:56330335G>A	ENST00000331886.5	+	2	502	c.48G>A	c.(46-48)ctG>ctA	p.L16L	DGKA_ENST00000394147.1_Silent_p.L16L|DGKA_ENST00000551156.1_Silent_p.L16L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	16					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TTGCCCAGCTGCAAAAATACA	0.527																																						uc001sij.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(46-48)ctG>ctA		Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	Vitamin E(DB00163)						88	81	83					12																	56330335		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56330335G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.48G>A	12.37:g.56330335G>A						DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.3_Silent_p.L16L|DGKA_uc001sil.3_Silent_p.L16L|DGKA_uc001sim.3_Silent_p.L16L|DGKA_uc001sin.3_Silent_p.L16L|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_5'UTR	p.L16L	NM_001345	NP_963848	P23743	DGKA_HUMAN			1	312	+			16					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.48G>A	CCDS8896.1																																																																																				0.527	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			A	56330335	G	A	56330335	2	1	87	1	0	0	0	0	0	0	0	1	4465	1306	46	3		3	DGKA	12	56330335	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	5754579	56330335	77521560	21	5845											
FREM2	341640	broad.mit.edu	37	chr13	39266205	39266205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcactatcacccaggTgcctattcatggccatctcc	10	11	6	14	0	4	0	3	0	1	0	5	1	4	0	4	2	1	0	4	2	3	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr13:39266205T>G	ENST00000280481.7	+	1	4940	c.4724T>G	c.(4723-4725)gTg>gGg	p.V1575G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1575					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCACCCAGGTGCCTATTCAT	0.418																																						uc001uwv.3																			0		p.V1575M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4723-4725)gTg>gGg		Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.							105	104	105					13																	39266205		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266205T>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4724T>G	13.37:g.39266205T>G	ENSP00000280481:p.Val1575Gly						p.V1575G	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	0	5033	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1575					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4724T>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	6.471	0.455065	0.12283	.	.	ENSG00000150893	ENST00000280481	T	0.29655	1.56	6.07	2.17	0.27698	.	0.484255	0.23644	N	0.046000	T	0.17365	0.0417	N	0.25060	0.705	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06409	-1.0828	10	0.27082	T	0.32	.	6.8638	0.24082	0.0:0.1324:0.1273:0.7403	.	1575	Q5SZK8	FREM2_HUMAN	G	1575	ENSP00000280481:V1575G	ENSP00000280481:V1575G	V	+	2	0	FREM2	38164205	1.000000	0.71417	0.946000	0.38457	0.958000	0.62258	3.473000	0.53122	0.542000	0.28846	0.528000	0.53228	GTG		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39266205	T	G	39266205	3	3	87	1	0	0	0	0	1	0	0	0	6045	1696	59	5	4726	5	FREM2	13	39266205	Missense_Mutation	SNP	T	TCGA-06-5410-01A-01D-1696-08		39266205	75903673	22	5846											
CHD8	57680	broad.mit.edu	37	chr14	21871325	21871325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggtcaatggcagcctGtcgaaggttgcctctaactc	9	9	12	11	2	2	0	1	0	1	0	4	2	2	0	2	3	4	2	2	3	4	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:21871325G>A	ENST00000557364.1	-	18	3828	c.3565C>T	c.(3565-3567)Cag>Tag	p.Q1189*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.Q910*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.Q1189*|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGCAGCCTGTCGAAGGTTG	0.478																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3565-3567)Cag>Tag		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							64	68	67					14																	21871325		2076	4223	6299	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871325G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3565C>T	14.37:g.21871325G>A	ENSP00000451601:p.Gln1189*					CHD8_uc001was.2_Nonsense_Mutation_p.Q910*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352*	p.Q1189*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	16	3630	-	all_cancers(95;0.00121)		1189			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.3565C>T	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.409255|5.409255	0.96072|0.96072	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74061	.|0.3667	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72157	.|-0.4375	.|3	0.46703|.	T|.	0.11|.	-19.5637|-19.5637	17.9328|17.9328	0.89004|0.89004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	910;1189;909;1189|414	.|.	ENSP00000262707:Q909X|.	Q|T	-|-	1|2	0|0	CHD8|CHD8	20941165|20941165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.654000|9.654000	0.98509|0.98509	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.478	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		A	21871325	G	A	21871325	4	1	87	1	0	0	0	0	0	1	0	0	3331	1386	48	3	4264	3	CHD8	14	21871325	Nonsense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		21871325	85478215	23	5847											
LRFN5	145581	broad.mit.edu	37	chr14	42360496	42360496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttttctggtcaataatctgGctgctggaactatgtatgac	9	15	9	8	0	3	1	1	1	2	0	3	2	3	2	0	3	2	3	0	3	5	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:42360496G>C	ENST00000298119.4	+	4	2618	c.1429G>C	c.(1429-1431)Gct>Cct	p.A477P	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	477	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAATAATCTGGCTGCTGGAAC	0.403										HNSCC(30;0.082)																												uc001wvm.3																			0		p.L476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1429-1431)Gct>Cct		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							161	128	139					14																	42360496		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360496G>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1429G>C	14.37:g.42360496G>C	ENSP00000298119:p.Ala477Pro	HNSCC(30;0.082)				LRFN5_uc010ana.3_Intron	p.A477P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2627	+			477			Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1429G>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886881	0.72410	.	.	ENSG00000165379	ENST00000298119	T	0.69040	-0.37	5.88	5.88	0.94601	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000046	T	0.79575	0.4469	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.77784	-0.2458	10	0.44086	T	0.13	.	17.7319	0.88380	0.0:0.0:1.0:0.0	.	477	Q96NI6	LRFN5_HUMAN	P	477	ENSP00000298119:A477P	ENSP00000298119:A477P	A	+	1	0	LRFN5	41430246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.779000	0.95612	0.650000	0.86243	GCT		0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		C	42360496	G	C	42360496	3	2	87	1	0	0	0	0	1	0	0	0	8941	1203	42	5	1435	5	LRFN5	14	42360496	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	20489171	42360496	64989044	24	5848											
ZNF263	10127	broad.mit.edu	37	chr16	3339555	3339555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgggcgcctcccccagAgggtggaatggagcaggcct	7	6	17	11	1	0	1	0	0	0	1	1	4	1	4	4	6	1	1	4	6	1	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:3339555A>G	ENST00000219069.5	+	6	1925	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	ZNF263_ENST00000574253.1_Missense_Mutation_p.R184G|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	350					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCTCCCCCAGAGGGTGGAATG	0.617																																						uc002cuq.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1048-1050)gAg>gGg		Homo sapiens zinc finger protein 263 (ZNF263), mRNA.							38	40	40					16																	3339555		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339555A>G	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1049A>G	16.37:g.3339555A>G	ENSP00000219069:p.Glu350Gly					ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	p.E350G	NM_005741	NP_005732	O14978	ZN263_HUMAN			5	1381	+			350					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1049A>G	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	A	9.047	0.991034	0.18966	.	.	ENSG00000006194	ENST00000219069	T	0.05382	3.45	5.49	5.49	0.81192	.	0.115595	0.39210	N	0.001430	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	P	0.39665	0.682	B	0.32864	0.154	T	0.48234	-0.9053	10	0.28530	T	0.3	.	13.5962	0.61991	1.0:0.0:0.0:0.0	.	350	O14978	ZN263_HUMAN	G	350	ENSP00000219069:E350G	ENSP00000219069:E350G	E	+	2	0	ZNF263	3279556	0.000000	0.05858	0.982000	0.44146	0.094000	0.18550	0.024000	0.13555	2.311000	0.77944	0.533000	0.62120	GAG		0.617	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			G	3339555	A	G	3339555	3	3	87	1	0	0	0	0	1	0	0	0	17800	304	11	4	1071	4	ZNF263	16	3339555	Missense_Mutation	SNP	A	TCGA-06-5410-01A-01D-1696-08		3339555	87015198	25	5849											
ADCY9	115	broad.mit.edu	37	chr16	4016471	4016471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtcctgggcctgcgCggtgttcagccctgacgccg	2	8	15	16	5	1	1	1	1	0	0	2	1	2	1	5	2	3	2	5	2	0	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:4016471C>T	ENST00000294016.3	-	11	3905	c.3367G>A	c.(3367-3369)Gcg>Acg	p.A1123T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1123	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTGCGCGGTGTTCAGC	0.602																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3367-3369)Gcg>Acg		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							83	71	75					16																	4016471		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016471C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3367G>A	16.37:g.4016471C>T	ENSP00000294016:p.Ala1123Thr						p.A1123T	NM_001116	NP_001107	O60503	ADCY9_HUMAN			10	3906	-			1123			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3367G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	7.287	0.610271	0.14066	.	.	ENSG00000162104	ENST00000294016	T	0.30182	1.54	5.52	-1.4	0.08968	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.331667	0.37053	N	0.002268	T	0.09686	0.0238	N	0.10945	0.07	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19160	-1.0314	10	0.09843	T	0.71	.	1.6337	0.02737	0.3895:0.3143:0.0975:0.1987	.	1123	O60503	ADCY9_HUMAN	T	1123	ENSP00000294016:A1123T	ENSP00000294016:A1123T	A	-	1	0	ADCY9	3956472	0.944000	0.32072	0.022000	0.16811	0.860000	0.49131	1.833000	0.39161	0.018000	0.15052	-0.181000	0.13052	GCG		0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4016471	C	T	4016471	3	4	87	1	0	0	0	0	1	0	0	0	301	768	27	1	698	1	ADCY9	16	4016471	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	676916	4016471	86338282	26	5850											
NF1	4763	broad.mit.edu	37	chr17	29533304	29533304	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgtgtattgtcactCggttgaacttcgaaatatgt	9	16	10	6	2	1	2	1	2	0	0	3	3	1	2	0	1	2	3	0	1	4	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr17:29533304C>A	ENST00000358273.4	+	12	1690	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	NF1_ENST00000431387.4_Nonsense_Mutation_p.S436*|NF1_ENST00000356175.3_Nonsense_Mutation_p.S436*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	436					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTGTCACTCGGTTGAACTT	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1306-1308)tCg>tAg		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							278	250	260					17																	29533304		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29533304C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1307C>A	17.37:g.29533304C>A	ENSP00000351015:p.Ser436*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Nonsense_Mutation_p.S436*|NF1_uc002hgf.2_Nonsense_Mutation_p.S436*|NF1_uc002hgh.3_Nonsense_Mutation_p.S436*|NF1_uc010csn.2_Nonsense_Mutation_p.S296*	p.S436*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1690	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	436					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1307C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147742	0.94603	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	436;436;436;102	.	ENSP00000348498:S436X	S	+	2	0	NF1	26557430	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.434000	0.80377	2.941000	0.99782	0.655000	0.94253	TCG		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29533304	C	A	29533304	4	1	87	1	0	0	0	0	0	1	0	0	10356	893	31	5	1353	5	NF1	17	29533304	Nonsense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08		29533304	51661906	27	5851											
CYP4F11	57834	broad.mit.edu	37	chr19	16034748	16034748	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacggcatctgtgaagtcGtgcaccaggtggcaggccct	8	8	14	11	2	1	2	0	2	1	0	2	2	1	2	2	4	1	3	2	4	1	0			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:16034748G>A	ENST00000591841.1	-	0	954				CYP4F11_ENST00000402119.4_Silent_p.H264H|CYP4F11_ENST00000326742.8_Silent_p.H264H|CYP4F11_ENST00000248041.8_Silent_p.H264H					cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGTGAAGTCGTGCACCAGGT	0.527																																						uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(790-792)caC>caT		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.							110	106	108					19																	16034748		2203	4300	6503			57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034748G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000591841.1:c.-184C>T	19.37:g.16034748G>A						CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H	p.H264H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN			6	828	-			264						Silent	SNP	ENST00000591841.1	37	c.792C>T																																																																																					0.527	CYP4F11-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460384.2	NM_021187		A	16034748	G	A	16034748	1	1	87	1	0	1	0	0	0	0	0	0	4186	1136	40	1		1	CYP4F11	19	16034748	De_novo_Start_OutOfFrame	SNP	G	TCGA-06-5410-01A-01D-1696-08		16034748	43094235	28	5852											
USE1	55850	broad.mit.edu	37	chr19	17329200	17329200	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacgtaaggaagagaaCgtgagtgtctgcggccctgg	10	7	17	7	3	1	2	0	1	1	1	1	6	1	4	1	4	2	1	1	4	3	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:17329200C>T	ENST00000263897.5	+	6	469	c.422C>T	c.(421-423)aCt>aTt	p.T141I	USE1_ENST00000379776.4_Splice_Site_p.T141I|USE1_ENST00000445667.2_Splice_Site_p.T141I|USE1_ENST00000596136.1_Splice_Site_p.T141I|USE1_ENST00000595101.1_3'UTR	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	141					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						AGGAAGAGAACGTGAGTGTCT	0.582																																						uc002nfo.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.e6+1		Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.							128	135	133					19																	17329200		2066	4198	6264	SO:0001630	splice_region_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17329200C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"Q-SNARE", "SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.422+1C>T	19.37:g.17329200C>T						USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Splice_Site_p.T141_splice	p.T141_splice	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			6	482	+			141					Q8NCK1|Q9BRT4	Missense_Mutation	SNP	ENST00000263897.5	37	c.422_splice	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455973	0.43634	.	.	ENSG00000053501	ENST00000263897;ENST00000445667;ENST00000379776	T;T	0.44083	0.93;0.93	2.58	-4.77	0.03219	.	0.656341	0.14815	N	0.296804	T	0.14013	0.0339	N	0.03608	-0.345	0.24989	N	0.991546	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.08351	-1.0726	10	0.37606	T	0.19	0.6364	4.2591	0.10732	0.0:0.3728:0.2683:0.3589	.	141;141	Q9NZ43-2;Q9NZ43	.;USE1_HUMAN	I	141	ENSP00000263897:T141I;ENSP00000390287:T141I	ENSP00000263897:T141I	T	+	2	0	USE1	17190200	0.176000	0.23096	0.898000	0.35279	0.558000	0.35554	-2.161000	0.01278	-0.948000	0.03668	0.313000	0.20887	ACT;ACT;ACA		0.582	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467	Missense_Mutation	T	17329200	C	T	17329200	5	4	87	1	0	0	0	0	0	0	1	0	17028	550	19	1	444	1	USE1	19	17329200	Splice_Site	SNP	C	TCGA-06-5410-01A-01D-1696-08	1294452	17329200	41799783	29	5853											
PSG1	5669	broad.mit.edu	37	chr19	43382389	43382389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcggcttcaatcgtgaCttgggcagtggtgggcaggt	5	11	17	8	2	1	1	1	1	0	0	3	1	1	1	0	6	0	4	0	6	1	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:43382389C>T	ENST00000436291.2	-	2	222	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	PSG1_ENST00000312439.6_Missense_Mutation_p.V36I|PSG1_ENST00000595356.1_Missense_Mutation_p.V36I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.V36I|PSG1_ENST00000595124.1_Missense_Mutation_p.V36I|PSG1_ENST00000244296.2_Missense_Mutation_p.V36I	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	36	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCAATCGTGACTTGGGCAGTG	0.463																																						uc002ovd.1																			0		p.V36V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(106-108)Gtc>Atc		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							145	160	155					19																	43382389		2203	4299	6502	SO:0001583	missense	5669				defense response|female pregnancy	extracellular region		g.chr19:43382389C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.106G>A	19.37:g.43382389C>T	ENSP00000413041:p.Val36Ile					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.V36I|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.V36I|PSG3_uc002ova.2_Missense_Mutation_p.V36I|PSG3_uc002ouz.2_Missense_Mutation_p.V36I|PSG3_uc002ovb.3_Missense_Mutation_p.V36I	p.V36I	NM_006905	NP_008836	Q16557	PSG3_HUMAN			1	244	-		Prostate(69;0.00682)	36			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.106G>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	10.98	1.505325	0.26949	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	1.64	-3.28	0.05033	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79975	0.4539	M	0.76727	2.345	0.09310	N	1	D;B;D;D;P;P;P;D;P	0.89917	1.0;0.328;0.989;0.998;0.869;0.508;0.62;0.994;0.832	D;B;P;D;P;B;B;P;P	0.91635	0.999;0.413;0.796;0.998;0.577;0.237;0.3;0.9;0.525	T	0.71623	-0.4537	9	0.72032	D	0.01	.	9.2011	0.37258	0.0:0.6856:0.3144:0.0	.	36;36;36;36;36;36;36;36;36	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	I	36	ENSP00000413041:V36I;ENSP00000385386:V36I;ENSP00000308970:V36I;ENSP00000244296:V36I	ENSP00000244296:V36I	V	-	1	0	PSG1	48074229	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.920000	0.04013	-0.759000	0.04684	0.184000	0.17185	GTC		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43382389	C	T	43382389	3	4	87	1	0	0	0	0	1	0	0	0	12653	565	20	3	1226	3	PSG1	19	43382389	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	26053189	43382389	15746594	30	5854											
CACNG6	59285	broad.mit.edu	37	chr19	54503003	54503003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcctgctccgagttggAgccgtctgctttggcctctc	3	13	12	13	2	2	0	0	0	2	0	5	3	4	1	4	2	3	4	4	2	0	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:54503003A>G	ENST00000252729.2	+	3	1112	c.522A>G	c.(520-522)ggA>ggG	p.G174G	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	174					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TCCGAGTTGGAGCCGTCTGCT	0.587																																						uc002qct.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(520-522)ggA>ggG		Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.							174	147	156					19																	54503003		2203	4300	6503	SO:0001819	synonymous_variant	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54503003A>G	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.522A>G	19.37:g.54503003A>G						CACNG6_uc002qcu.3_Intron|CACNG6_uc002qcv.3_Intron	p.G174G	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	2	1112	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		174						Silent	SNP	ENST00000252729.2	37	c.522A>G	CCDS12870.1																																																																																				0.587	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			G	54503003	A	G	54503003	2	3	87	1	0	0	0	0	0	0	0	1	2561	291	11	4		4	CACNG6	19	54503003	Silent	SNP	A	TCGA-06-5410-01A-01D-1696-08	11120614	54503003	4625980	31	5855											
SYN3	8224	broad.mit.edu	37	chr22	32937634	32937634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggcctcggtggtggcGtaggttttggccatggcgac	6	10	17	8	3	0	1	0	1	0	0	1	2	0	1	2	7	0	2	2	7	2	3	rs148217218		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr22:32937634G>A	ENST00000358763.2	-	8	1082	c.840C>T	c.(838-840)taC>taT	p.Y280Y	SYN3_ENST00000332840.5_Silent_p.Y280Y	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	280	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGTGGTGGCGTAGGTTTTGG	0.552																																						uc003amx.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(838-840)taC>taT		Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	230	171	191		837,840,840	-4.6	1	22	dbSNP_134	191	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	279/580,280/581,280/445	32937634	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32937634G>A	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.840C>T	22.37:g.32937634G>A						SYN3_uc003amy.3_Silent_p.Y280Y|SYN3_uc003amz.3_Silent_p.Y279Y	p.Y280Y	NM_003490	NP_003481	O14994	SYN3_HUMAN			6	1002	-			280			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.840C>T	CCDS13908.1																																																																																				0.552	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			A	32937634	G	A	32937634	2	1	87	1	0	0	0	0	0	0	0	1	15439	1140	40	1		1	SYN3	22	32937634	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08		32937634	18366932	32	5856											
ZBED1	9189	broad.mit.edu	37	chrX	2407462	2407462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtctccttgatgttgagCgtggtgttcaggagcatgtg	5	14	15	7	2	2	2	1	2	1	0	4	3	2	3	1	3	2	3	1	3	0	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:2407462C>T	ENST00000381223.4	-	2	1502	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Silent_p.T433T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.T433T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	433					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.T433T(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATGTTGAGCGTGGTGTTCA	0.597																																						uc022brx.1																			1	Substitution - coding silent(1)	p.T433T(2)	endometrium(1)	endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1297-1299)acG>acA		Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.							174	151	158					X																	2407462		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407462C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1299G>A	X.37:g.2407462C>T						DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.T433T|ZBED1_uc004cqg.2_Silent_p.T433T|ZBED1_uc022brw.1_Silent_p.T433T	p.T433T	NM_004729	NP_004720	O96006	ZBED1_HUMAN			0	1299	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	433					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.1299G>A	CCDS14118.1																																																																																				0.597	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		T	2407462	C	T	2407462	2	4	87	1	0	0	0	0	0	0	0	1	17514	755	27	1		1	ZBED1	23	2407462	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		2407462	152863098	33	5857											
RAI2	10742	broad.mit.edu	37	chrX	17818684	17818684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatggactcttccccttGgctgttgatgtcatagccct	5	14	8	14	0	2	1	1	1	1	0	4	2	4	2	4	2	1	2	4	2	1	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:17818684G>C	ENST00000545871.1	-	3	1907	c.1447C>G	c.(1447-1449)Caa>Gaa	p.Q483E	RAI2_ENST00000331511.1_Missense_Mutation_p.Q483E|RAI2_ENST00000451717.1_Missense_Mutation_p.Q483E|RAI2_ENST00000360011.1_Missense_Mutation_p.Q483E|RAI2_ENST00000415486.3_Missense_Mutation_p.Q433E	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	483					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCTTCCCCTTGGCTGTTGATG	0.468																																						uc022btm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1447-1449)Caa>Gaa		Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.							256	264	261					X																	17818684		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818684G>C	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1447C>G	X.37:g.17818684G>C	ENSP00000444210:p.Gln483Glu					RAI2_uc004cyf.3_Missense_Mutation_p.Q483E|RAI2_uc004cyg.3_Missense_Mutation_p.Q483E|RAI2_uc011miy.2_Missense_Mutation_p.Q433E|RAI2_uc022btl.1_Missense_Mutation_p.Q483E|RAI2_uc004cyh.4_Missense_Mutation_p.Q483E|RAI2_uc010nfa.3_Missense_Mutation_p.Q483E	p.Q483E	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			0	1447	-	Hepatocellular(33;0.183)		483					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1447C>G	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931247	0.34096	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.32272	1.47;1.47;1.47;1.47;1.46	5.12	5.12	0.69794	.	0.477878	0.21357	N	0.075870	T	0.28797	0.0714	L	0.29908	0.895	0.37528	D	0.917826	B;B	0.21606	0.058;0.058	B;B	0.27076	0.076;0.076	T	0.17289	-1.0374	10	0.54805	T	0.06	-1.4961	17.7433	0.88413	0.0:0.0:1.0:0.0	.	433;483	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	E	483;483;483;483;433	ENSP00000333456:Q483E;ENSP00000353106:Q483E;ENSP00000444210:Q483E;ENSP00000401323:Q483E;ENSP00000392578:Q433E	ENSP00000333456:Q483E	Q	-	1	0	RAI2	17728605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.932000	0.63476	2.378000	0.81104	0.600000	0.82982	CAA		0.468	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		C	17818684	G	C	17818684	3	2	87	1	0	0	0	0	1	0	0	0	13009	1357	47	5	149	5	RAI2	23	17818684	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	15411222	17818684	137451876	34	5858											
EIF2S3	1968	broad.mit.edu	37	chrX	24073154	24073154	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaggatctcaccaccttGgtgaggttttgcttggggag	6	12	14	9	1	2	1	2	1	1	0	3	3	2	3	2	5	1	2	2	5	0	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:24073154G>A	ENST00000253039.4	+	1	322	c.69G>A	c.(67-69)ttG>ttA	p.L23L		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TCACCACCTTGGTGAGGTTTT	0.587											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dbc.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.e1+1		Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.							75	62	67					X																	24073154		2203	4300	6503	SO:0001630	splice_region_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24073154G>A	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.69+1G>A	X.37:g.24073154G>A			OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.L23_splice	NM_001415	NP_001406	P41091	IF2G_HUMAN			1	90	+			23					B5BTZ4	Silent	SNP	ENST00000253039.4	37	c.69_splice	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249807	0.39797	.	.	ENSG00000130741	ENST00000423068	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.74122	0.3675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73209	-0.4055	4	.	.	.	.	17.8958	0.88887	0.0:0.0:1.0:0.0	.	.	.	.	R	23	.	.	G	+	1	0	EIF2S3	23983075	1.000000	0.71417	0.997000	0.53966	0.510000	0.34073	5.359000	0.66074	2.416000	0.81992	0.600000	0.82982	GGA		0.587	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415	Silent	A	24073154	G	A	24073154	5	1	87	1	0	0	0	0	0	0	1	0	5011	1362	47	3	71	3	EIF2S3	23	24073154	Splice_Site	SNP	G	TCGA-06-5410-01A-01D-1696-08	6254470	24073154	131197406	35	5859											
PORCN	64840	broad.mit.edu	37	chrX	48368320	48368320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttgccatctgcctcGcctgccgcctcctctggagg	2	11	10	18	2	2	0	0	0	2	0	5	1	4	1	7	2	4	1	7	2	0	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:48368320G>A	ENST00000326194.6	+	1	155	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000361988.3_Missense_Mutation_p.A38T|PORCN_ENST00000359882.4_Missense_Mutation_p.A38T|PORCN_ENST00000537758.1_Missense_Mutation_p.A38T|PORCN_ENST00000355961.4_Missense_Mutation_p.A38T|PORCN_ENST00000355092.3_Missense_Mutation_p.A38T|PORCN_ENST00000367574.4_5'UTR|AF196972.9_ENST00000445586.1_RNA	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	38	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCTGCCTCGCCTGCCGCCT	0.597																																						uc010nie.1																			0		p.L37I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(112-114)Gcc>Acc		Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.							46	41	43					X																	48368320		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48368320G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.112G>A	X.37:g.48368320G>A	ENSP00000322304:p.Ala38Thr					PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T	p.A38T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			1	270	+			38			Leu-rich.		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.112G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338188	0.41398	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97688	-3.49;-4.49;-3.49;-2.38;-3.49;-4.49;-3.49	5.44	2.25	0.28309	.	0.486738	0.21687	N	0.070625	D	0.90988	0.7166	N	0.12746	0.255	0.80722	D	1	B;B;B;B;B	0.31817	0.004;0.005;0.004;0.004;0.341	B;B;B;B;B	0.19148	0.007;0.003;0.004;0.007;0.024	D	0.85912	0.1441	10	0.23891	T	0.37	-4.0195	9.0523	0.36383	0.3054:0.0:0.6946:0.0	.	38;38;38;38;38	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	T	38	ENSP00000352946:A38T;ENSP00000446401:A38T;ENSP00000348233:A38T;ENSP00000419212:A38T;ENSP00000354978:A38T;ENSP00000322304:A38T;ENSP00000347207:A38T	ENSP00000322304:A38T	A	+	1	0	PORCN	48253264	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.505000	0.35736	0.497000	0.27926	0.529000	0.55759	GCC		0.597	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		A	48368320	G	A	48368320	3	1	87	1	0	0	0	0	1	0	0	0	12258	1087	38	1	114	1	PORCN	23	48368320	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	24295166	48368320	106902240	36	5860											
WNK3	65267	broad.mit.edu	37	chrX	54276526	54276526	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgattgatacagaatcGccaccgaccaactggggatg	11	8	11	11	3	1	3	0	2	1	1	2	5	1	4	3	2	2	0	3	2	3	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:54276526G>A	ENST00000375159.2	-	15	2613	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.R872*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.R872*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	872					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATACAGAATCGCCACCGACCA	0.423																																						uc004dtc.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2614-2616)Cga>Tga		Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.							47	40	42					X																	54276526		2203	4300	6503	SO:0001587	stop_gained	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276526G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2614C>T	X.37:g.54276526G>A	ENSP00000364301:p.Arg872*					WNK3_uc004dtd.2_Nonsense_Mutation_p.R872*	p.R872*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN			15	3053	-			872					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	c.2614C>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	40	8.203670	0.98704	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.5	3.51	0.40186	.	0.000000	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.145	10.596	0.45338	0.0:0.0:0.3882:0.6118	.	.	.	.	X	872	.	ENSP00000346667:R872X	R	-	1	2	WNK3	54293251	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.218000	0.32467	1.062000	0.40625	0.506000	0.49869	CGA		0.423	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54276526	G	A	54276526	4	1	87	1	0	0	0	0	0	1	0	0	17376	1095	38	1	2824	1	WNK3	23	54276526	Nonsense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	5908206	54276526	100994034	37	5861											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011568	105011568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaccccttaataacaccCtgaaagatacccaggaattt	15	9	5	12	0	0	2	0	1	0	1	0	3	0	3	4	1	4	1	4	1	6	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:105011568C>T	ENST00000372582.1	+	11	2731	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	IL1RAPL2_ENST00000344799.4_Silent_p.L659L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	659					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAATAACACCCTGAAAGATAC	0.448																																						uc004elz.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1975-1977)Ctg>Ttg		Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.							128	129	128					X																	105011568		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011568C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1975C>T	X.37:g.105011568C>T							p.L659L	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			10	2731	+			659					Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1975C>T	CCDS14517.1																																																																																				0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		T	105011568	C	T	105011568	2	4	87	1	0	0	0	0	0	0	0	1	7662	680	24	3		3	IL1RAPL2	23	105011568	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	50735042	105011568	50258992	38	5862											
MASP2	10747	broad.mit.edu	37	chr1	11087589	11087589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagttgtcatataaaaGtgcacctgctgctgtggttc	9	12	10	10	0	1	0	1	0	0	0	2	1	1	0	2	1	3	5	2	1	3	4			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:11087589G>A	ENST00000400897.3	-	11	1429	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	472	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCATATAAAAGTGCACCTGCT	0.493																																					GBM(35;611 746 20780 22741 36496)	uc001aru.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1414-1416)Ctt>Ttt		Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.							133	130	131					1																	11087589		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11087589G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1414C>T	1.37:g.11087589G>A	ENSP00000383690:p.Leu472Phe						p.L472F	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	10	1446	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	472			Peptidase S1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1414C>T	CCDS123.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108251	0.77096	.	.	ENSG00000009724	ENST00000400897	D	0.97404	-4.37	5.45	5.45	0.79879	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.98865	0.9616	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.87932	D	0	.	15.6353	0.76946	0.0:0.0:0.8622:0.1378	.	472	O00187	MASP2_HUMAN	F	472	ENSP00000383690:L472F	ENSP00000383690:L472F	L	-	1	0	MASP2	11010176	1.000000	0.71417	0.362000	0.25862	0.982000	0.71751	3.883000	0.56168	2.549000	0.85964	0.563000	0.77884	CTT		0.493	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		A	11087589	G	A	11087589	3	1	88	1	0	0	0	0	1	0	0	0	9323	1029	36	3	650	3	MASP2	1	11087589	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		11087589	238163032	1	5863											
RNF2	6045	broad.mit.edu	37	chr1	185069006	185069006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctttagaagaacttcgaaGcaaaggtgaatcaaaccaga	18	7	9	7	1	1	4	1	1	0	3	2	5	1	4	1	1	4	2	1	1	7	3	rs202081769	byFrequency	TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:185069006G>A	ENST00000367510.3	+	6	1109	c.821G>A	c.(820-822)aGc>aAc	p.S274N	RNF2_ENST00000367509.4_Missense_Mutation_p.S202N	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	274					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAACTTCGAAGCAAAGGTGAA	0.393													G|||	2	0.000399361	0	0	5008	,	,		17113	0.002		0	False		,,,				2504	0					uc001grc.1																			0		p.R273*(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(820-822)aGc>aAc		Homo sapiens ring finger protein 2 (RNF2), mRNA.							96	96	96					1																	185069006		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185069006G>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.821G>A	1.37:g.185069006G>A	ENSP00000356480:p.Ser274Asn					RNF2_uc001grd.1_Missense_Mutation_p.S202N	p.S274N	NM_007212	NP_009143	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	5	1054	+		Breast(1374;0.000496)	274					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.821G>A	CCDS1365.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.86	2.660886	0.47572	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.85171	-1.95	5.83	3.95	0.45737	.	0.108653	0.85682	N	0.000000	T	0.74711	0.3752	N	0.22421	0.69	0.43050	D	0.994659	B;B	0.14012	0.009;0.0	B;B	0.04013	0.001;0.0	T	0.67217	-0.5726	10	0.36615	T	0.2	-31.6795	11.35	0.49583	0.0654:0.0:0.808:0.1267	.	202;274	B3KRH1;Q99496	.;RING2_HUMAN	N	274;202	ENSP00000356480:S274N	ENSP00000356479:S202N	S	+	2	0	RNF2	183335629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.015000	0.64035	0.809000	0.34255	-0.187000	0.12897	AGC		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		A	185069006	G	A	185069006	3	1	88	1	0	0	0	0	1	0	0	0	13472	971	34	3	839	3	RNF2	1	185069006	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	173981417	185069006	64181615	2	5864											
SOX13	9580	broad.mit.edu	37	chr1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-																															ggctgccatgctgtttgagaAgcagcagcagcagatggagc																										TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204085764_204085766delAGC	ENST00000367204.1	+	5	657_659	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	187	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576																																						uc001ham.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(547-552)aagcag>aag		Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.																																				SO:0001651	inframe_deletion	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204085764_204085766delAGC		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.548_550delAGC	1.37:g.204085773_204085775delAGC	ENSP00000356172:p.Gln187del					SOX13_uc001hal.3_In_Frame_Del_p.Q187del|SOX13_uc010pqp.2_In_Frame_Del_p.Q187del|SOX13_uc010pqq.2_In_Frame_Del_p.Q54del	p.Q187del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1143_1145	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		187			Gln-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	In_Frame_Del	DEL	ENST00000367204.1	37	c.548_550delAGC	CCDS44299.1																																																																																				0.576	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		-	204085766	AGC	-	204085764	7	5	88	1	0	1	0	1	0	0	0	0	14944	72	3	0	562	0	SOX13	1	204085764	In_Frame_Del	DEL	AGC	TCGA-06-5411-01A-01D-1696-08	19016758	204085764	45164857	3	5865											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309|rs121917743		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						uc001haq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(43-48)ctgctc>ctc		Homo sapiens renin (REN), mRNA.	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del						p.15_16LL>L	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		0	89_91	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15					Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		-	204135377	AGC	-	204135375	7	5	88	1	0	1	0	1	0	0	0	0	13224	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-06-5411-01A-01D-1696-08	49611	204135375	45115246	4	5866											
OR2C3	81472	broad.mit.edu	37	chr1	247695277	247695277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatgaggggcatctcgcaAaagaagtggtcgatgcaatt	14	9	12	6	2	1	2	0	1	1	1	3	3	1	2	0	3	1	3	0	3	5	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:247695277A>G	ENST00000366487.3	-	2	898	c.537T>C	c.(535-537)ttT>ttC	p.F179F	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCATCTCGCAAAAGAAGTGGT	0.557																																						uc021pmb.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(535-537)ttT>ttC		Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.							77	71	73					1																	247695277		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695277A>G	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.537T>C	1.37:g.247695277A>G						C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.F179F	p.F179F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		0	537	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	179					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.537T>C	CCDS1634.2																																																																																				0.557	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		G	247695277	A	G	247695277	2	3	88	1	0	0	0	0	0	0	0	1	10993	11	1	4		4	OR2C3	1	247695277	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	43559902	247695277	1555344	5	5867											
PIGF	5281	broad.mit.edu	37	chr2	46808672	46808672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatatccagagtggtgaaAtaacaaggccagccacgtag	15	7	11	8	1	0	2	0	1	0	1	1	2	1	2	3	2	2	2	3	2	6	4			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:46808672A>G	ENST00000281382.6	-	6	775	c.605T>C	c.(604-606)aTt>aCt	p.I202T	PIGF_ENST00000306465.4_3'UTR|RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000238738.4_3'UTR	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	202					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAGTGGTGAAATAACAAGGCC	0.418																																						uc002rvd.3																			0				breast(1)|endometrium(1)|lung(1)|stomach(1)	4						c.(604-606)aTt>aCt		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA.							42	41	41					2																	46808672		2203	4299	6502	SO:0001583	missense	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46808672A>G		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"Phosphatidylinositol glycan anchor biosynthesis"	8962	protein-coding gene	gene with protein product		600153	"phosphatidylinositol glycan, class F"			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.605T>C	2.37:g.46808672A>G	ENSP00000281382:p.Ile202Thr					RHOQ_uc002rva.3_3'UTR|BC048424_uc002rvb.3_5'Flank|PIGF_uc002rvc.3_3'UTR	p.I202T	NM_002643	NP_002634	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		5	769	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	202					Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.605T>C	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295085	0.23564	.	.	ENSG00000151665	ENST00000281382	.	.	.	5.54	1.84	0.25277	.	0.258782	0.45361	N	0.000376	T	0.43964	0.1271	M	0.62266	1.93	0.09310	N	0.999999	B	0.27910	0.193	B	0.31390	0.129	T	0.39396	-0.9616	9	0.49607	T	0.09	-2.1903	9.73	0.40355	0.8028:0.0:0.1972:0.0	.	202	Q07326	PIGF_HUMAN	T	202	.	ENSP00000281382:I202T	I	-	2	0	PIGF	46662176	0.984000	0.35163	0.036000	0.18154	0.992000	0.81027	3.473000	0.53122	0.166000	0.19597	-0.297000	0.09499	ATT		0.418	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074		G	46808672	A	G	46808672	3	3	88	1	0	0	0	0	1	0	0	0	11887	101	4	4	58	4	PIGF	2	46808672	Missense_Mutation	SNP	A	TCGA-06-5411-01A-01D-1696-08		46808672	196390701	6	5868											
LBX2	85474	broad.mit.edu	37	chr2	74729804	74729804	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttcgtgactttgggggcgGcaggcctgtgagttgttttc	3	15	16	7	2	0	2	0	2	0	0	2	2	0	2	1	4	0	4	1	4	0	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:74729804G>A	ENST00000377566.4	-	0	0				PCGF1_ENST00000480844.2_5'Flank|LBX2_ENST00000460508.3_Silent_p.C61C|RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000341396.2_Intron|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000550249.1_Intron|LBX2-AS1_ENST00000548978.2_RNA	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTTGGGGGCGGCAGGCCTGTG	0.602																																						uc002slw.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(181-183)tgC>tgT		Homo sapiens ladybird homeobox 2 (LBX2), mRNA.							63	68	66					2																	74729804		2203	4300	6503	SO:0001631	upstream_gene_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74729804G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"Homeoboxes / ANTP class : NKL subclass"	15525	protein-coding gene	gene with protein product		607164	"ladybird homeobox homolog 2 (Drosophila)"			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595		2.37:g.74729804G>A	Exception_encountered					LOC151534_uc002slx.2_Non-coding_Transcript	p.C61C	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			0	640	-			64					Q7Z5Y8	Silent	SNP	ENST00000377566.4	37	c.183C>T																																																																																					0.602	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		A	74729804	G	A	74729804	1	1	88	0	1	0	0	0	0	0	0	0	8654	1195	42	3		3	LBX2	2	74729804	5'Flank	SNP	G	TCGA-06-5411-01A-01D-1696-08	27921132	74729804	168469569	7	5869											
FAM176A	84141	broad.mit.edu	37	chr2	75720689	75720689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggtcagcaccagcccGatgcacacgccagaaacaaa	14	2	10	15	2	1	1	1	0	0	1	1	2	1	1	4	1	4	2	4	1	2	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:75720689G>A	ENST00000233712.1	-	4	569	c.132C>T	c.(130-132)atC>atT	p.I44I	EVA1A_ENST00000410113.1_Silent_p.I44I|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Silent_p.I44I|EVA1A_ENST00000410071.1_Silent_p.I44I|EVA1A_ENST00000410010.1_Silent_p.I32I	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	44	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GCACCAGCCCGATGCACACGC	0.537																																						uc002sni.2																			0				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						c.(130-132)atC>atT		Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.							34	32	33					2																	75720689		2203	4300	6503	SO:0001819	synonymous_variant	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720689G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.132C>T	2.37:g.75720689G>A						FAM176A_uc002snj.1_Silent_p.I31I|FAM176A_uc002snk.1_Silent_p.I44I	p.I44I	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN			3	610	-			44			Necessary for the localization and biological activity.		D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	c.132C>T	CCDS1959.1																																																																																				0.537	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		A	75720689	G	A	75720689	2	1	88	1	0	0	0	0	0	0	0	1	5499	1048	37	2		2	FAM176A	2	75720689	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	990885	75720689	167478684	8	5870											
DNAH7	56171	broad.mit.edu	37	chr2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaataggatctagttcttCgccaacattttctagcaaca	14	12	5	10	1	3	0	0	0	3	0	4	1	3	1	1	1	3	2	1	1	7	7			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:196689149C>T	ENST00000312428.6	-	49	9221	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAGTTCTTCGCCAACATTT	0.348																																						uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9121-9123)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							124	114	117					2																	196689149		1822	4079	5901	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196689149C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9121G>A	2.37:g.196689149C>T	ENSP00000311273:p.Glu3041Lys						p.E3041K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			48	9222	-			3041			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9121G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473197	0.63737	.	.	ENSG00000118997	ENST00000312428	T	0.31247	1.5	4.97	4.97	0.65823	.	0.053821	0.64402	D	0.000001	T	0.73353	0.3576	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.85034	0.0919	10	0.87932	D	0	.	18.3781	0.90441	0.0:1.0:0.0:0.0	.	3041	Q8WXX0	DYH7_HUMAN	K	3041	ENSP00000311273:E3041K	ENSP00000311273:E3041K	E	-	1	0	DNAH7	196397394	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	7.475000	0.81041	2.740000	0.93945	0.650000	0.86243	GAA		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196689149	C	T	196689149	3	4	88	1	0	0	0	0	1	0	0	0	4606	893	31	2	3021	2	DNAH7	2	196689149	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	120968460	196689149	46510224	9	5871											
ABI2	10152	broad.mit.edu	37	chr2	204260428	204260428	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagtagtcggagcagcagtCgagagaacagtggaagtggt	13	6	16	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	3	0	3	4	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:204260428C>T	ENST00000422511.2	+	7	806	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ABI2_ENST00000261018.7_Nonsense_Mutation_p.R45*|ABI2_ENST00000261016.6_Nonsense_Mutation_p.R208*|ABI2_ENST00000430574.1_3'UTR|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Nonsense_Mutation_p.R253*|ABI2_ENST00000295851.5_Nonsense_Mutation_p.R259*|ABI2_ENST00000261017.5_Nonsense_Mutation_p.R253*|ABI2_ENST00000430418.1_Nonsense_Mutation_p.R204*			Q9NYB9	ABI2_HUMAN	abl-interactor 2	259	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GAGCAGCAGTCGAGAGAACAG	0.478																																						uc002vaa.3																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(775-777)Cga>Tga		Homo sapiens abl-interactor 2 (ABI2), mRNA.							214	182	193					2																	204260428		2203	4300	6503	SO:0001587	stop_gained	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204260428C>T	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.775C>T	2.37:g.204260428C>T	ENSP00000396249:p.Arg259*					ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc010zij.2_Nonsense_Mutation_p.R197*|ABI2_uc002uzz.3_Nonsense_Mutation_p.R253*|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Nonsense_Mutation_p.R253*|ABI2_uc002vab.3_Nonsense_Mutation_p.R208*|ABI2_uc010zik.2_Nonsense_Mutation_p.R45*|ABI2_uc010zil.2_Nonsense_Mutation_p.R94*|ABI2_uc010zim.2_Nonsense_Mutation_p.R45*|ABI2_uc002vac.3_Nonsense_Mutation_p.R45*|ABI2_uc010zin.2_Intron	p.R259*	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			6	1010	+			259			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Nonsense_Mutation	SNP	ENST00000422511.2	37	c.775C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.163097	0.98107	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	.	.	.	5.81	4.93	0.64822	.	0.101668	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5701	16.3042	0.82842	0.1335:0.8665:0.0:0.0	.	.	.	.	X	259;253;204;253;208;259;259;45	.	ENSP00000261016:R208X	R	+	1	2	ABI2	203968673	0.999000	0.42202	0.995000	0.50966	0.994000	0.84299	1.713000	0.37951	1.451000	0.47736	0.650000	0.86243	CGA		0.478	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		T	204260428	C	T	204260428	4	4	88	1	0	0	0	0	0	1	0	0	89	876	31	2	779	2	ABI2	2	204260428	Nonsense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	7571279	204260428	38938945	10	5872											
RAF1	5894	broad.mit.edu	37	chr3	12632402	12632402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgccctcgcaccacTgggtcacaattgccaggttg	6	9	12	14	1	1	0	1	0	0	0	2	0	1	0	3	3	3	4	3	3	1	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:12632402T>C	ENST00000251849.4	-	12	1704	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	RAF1_ENST00000534997.1_Missense_Mutation_p.Q207R|RAF1_ENST00000542177.1_Missense_Mutation_p.Q341R|RAF1_ENST00000442415.2_Missense_Mutation_p.Q442R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTCGCACCACTGGGTCACAAT	0.542			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1264-1266)cAg>cGg		Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	Sorafenib(DB00398)						135	125	129					3																	12632402		2203	4300	6503	SO:0001583	missense	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12632402T>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1265A>G	3.37:g.12632402T>C	ENSP00000251849:p.Gln422Arg					RAF1_uc011aut.2_Missense_Mutation_p.Q207R|RAF1_uc011auu.2_Missense_Mutation_p.Q340R	p.Q422R	NM_002880	NP_002871	P04049	RAF1_HUMAN			11	1680	-			422			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1265A>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664491	0.88251	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23	4.75	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	N	0.16368	0.405	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.994	D;D;D	0.97110	1.0;1.0;0.999	D	0.99814	1.1043	10	0.87932	D	0	.	14.7128	0.69247	0.0:0.0:0.0:1.0	.	341;207;422	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	R	422;442;301;207;341	ENSP00000251849:Q422R;ENSP00000401888:Q442R;ENSP00000398591:Q301R;ENSP00000441186:Q207R;ENSP00000443567:Q341R	ENSP00000251849:Q422R	Q	-	2	0	RAF1	12607402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.820000	0.86633	2.115000	0.64714	0.460000	0.39030	CAG		0.542	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		C	12632402	T	C	12632402	3	2	88	1	0	0	0	0	1	0	0	0	13002	1580	55	4	705	4	RAF1	3	12632402	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		12632402	185390028	11	5873											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	10	8	18	5	0	2	1	1	1	1	0	2	4	2	4	0	6	0	1	0	6	4	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42	47	45					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His					SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	p.D1978H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5984	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		G	38591931	C	G	38591931	3	3	88	1	0	0	0	0	1	0	0	0	13922	826	29	5	122	5	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	25959529	38591931	159430499	12	5874											
SLC9A9	285195	broad.mit.edu	37	chr3	143212496	143212496	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataacatagttcacataccTgaaaacatcatcatgtgctg	15	12	5	9	0	3	1	3	1	0	0	3	1	3	1	1	0	4	2	1	0	6	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:143212496T>C	ENST00000316549.6	-	11	1522	c.1314A>G	c.(1312-1314)tcA>tcG	p.S438S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	438					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTCACATACCTGAAAACATCA	0.403																																						uc003evn.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.e11+1		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.							118	115	116					3																	143212496		2203	4300	6503	SO:0001630	splice_region_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143212496T>C	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1315+1A>G	3.37:g.143212496T>C							p.G439_splice	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			11	1524	-			439					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1315_splice	CCDS33872.1																																																																																				0.403	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	Silent	C	143212496	T	C	143212496	5	2	88	1	0	0	0	0	0	0	1	0	14721	1594	55	4	647	4	SLC9A9	3	143212496	Splice_Site	SNP	T	TCGA-06-5411-01A-01D-1696-08	104620565	143212496	54809934	13	5875											
KIT	3815	broad.mit.edu	37	chr4	55597497	55597497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcatctctcccagcagCgatagtactaatgagtacat	11	13	7	10	1	2	1	1	1	1	0	4	2	3	1	1	0	4	4	1	0	4	5	rs192110951	byFrequency	TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs56094246). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S715del(7)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				C|||	2	0.000399361	0	0	5008	,	,		20107	0.002		0	False		,,,				2504	0					uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		7	Deletion - In frame(7)	p.S715del(14)	soft_tissue(7)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2143-2145)agC>agT		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						110	102	105					4																	55597497		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55597497C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2145C>T	4.37:g.55597497C>T						KIT_uc010igs.3_Silent_p.S711S|KIT_uc010igt.2_Splice_Site_p.C163_splice	p.S715S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	14	2232	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		715		S -> N (in dbSNP:rs56094246).	Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.2145C>T	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			T	55597497	C	T	55597497	2	4	88	1	0	0	0	0	0	0	0	1	8329	767	27	1		1	KIT	4	55597497	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		55597497	135556779	14	5876											
ARL9	132946	broad.mit.edu	37	chr4	57389924	57389924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttggcattatctgaagtggGaaatgacaggaagatgttct	12	13	12	4	0	2	3	0	2	2	1	2	5	2	5	0	3	0	2	0	3	4	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:57389924G>A	ENST00000360096.2	+	4	568	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	149					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TCTGAAGTGGGAAATGACAGG	0.433																																						uc003hby.1																			0				lung(2)	2						c.(253-255)gGa>gAa		Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.							126	120	122					4																	57389924		1950	4152	6102	SO:0001583	missense	132946						GTP binding	g.chr4:57389924G>A	AY439003	CCDS59474.1	4q12	2014-05-09				ENSG00000196503		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23592	protein-coding gene	gene with protein product		612405					Standard	NM_206919		Approved		uc003hby.1	Q6T311		ENST00000360096.2:c.254G>A	4.37:g.57389924G>A	ENSP00000353210:p.Gly85Glu						p.G85E	NM_206919	NP_996802	Q6T311	ARL9_HUMAN			3	702	+	Glioma(25;0.08)|all_neural(26;0.101)		149						Missense_Mutation	SNP	ENST00000360096.2	37	c.254G>A	CCDS59474.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296172	0.81025	.	.	ENSG00000196503	ENST00000360096	.	.	.	5.32	5.32	0.75619	.	0.050686	0.85682	D	0.000000	T	0.73265	0.3565	L	0.47016	1.485	0.47949	D	0.999550	D	0.89917	1.0	D	0.91635	0.999	T	0.69844	-0.5035	8	0.31617	T	0.26	-20.6727	16.8642	0.86025	0.0:0.0:1.0:0.0	.	149	Q6T311	ARL9_HUMAN	E	149	.	ENSP00000353210:G149E	G	+	2	0	ARL9	57084681	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.659000	0.83766	2.639000	0.89480	0.557000	0.71058	GGA		0.433	ARL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467724.1	NM_206919		A	57389924	G	A	57389924	3	1	88	1	0	0	0	0	1	0	0	0	948	1174	41	3	264	3	ARL9	4	57389924	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	1792427	57389924	133764352	15	5877											
UGT2B10	54569	broad.mit.edu	37	chr4	69885591	69885591	+	IGR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggagtgaagctgtgaCtgtacacaaagggtatgtta	13	9	13	6	0	0	2	0	2	0	0	0	3	0	3	1	2	3	4	1	2	5	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:69885591C>G								UGT2A3 (68082 upstream) : UGT2B7 (31602 downstream)																							GAAGCTGTGACTGTACACAAA	0.408																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(376-378)aGt>aCt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							152	109	122					4																	69885591		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885591C>G																													4.37:g.69885591C>G						UGT2B10_uc011can.1_Intron	p.S126T			P36537	UDB10_HUMAN			2	503	-			170						Missense_Mutation	SNP		37	c.377G>C																																																																																				0	0.408									G	69885591	C	G	69885591	1	3	88	0	1	0	0	0	0	0	0	0	16953	564	20	5		5	UGT2B10	4	69885591	IGR	SNP	C	TCGA-06-5411-01A-01D-1696-08	12495667	69885591	121268685	16	5878											
MUC7	4589	broad.mit.edu	37	chr4	71346617	71346617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacattatcctggactgctAgctcaccagaagccgttcat	10	10	7	14	1	2	1	2	0	0	1	3	2	3	2	4	1	3	3	4	1	3	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:71346617A>G	ENST00000304887.5	+	3	346	c.156A>G	c.(154-156)ctA>ctG	p.L52L	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Silent_p.L52L|MUC7_ENST00000456088.1_Silent_p.L52L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	52					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTGGACTGCTAGCTCACCAGA	0.453																																						uc011cat.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(154-156)ctA>ctG		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							176	173	174					4																	71346617		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346617A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.156A>G	4.37:g.71346617A>G						MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	p.L52L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	444	+			52					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.156A>G	CCDS3541.1																																																																																				0.453	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		G	71346617	A	G	71346617	2	3	88	1	0	0	0	0	0	0	0	1	9981	407	15	4		4	MUC7	4	71346617	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	1461026	71346617	119807659	17	5879											
CARD6	84674	broad.mit.edu	37	chr5	40853218	40853218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagtgaagaggctcaaaTttttcagaggatactgaact	14	10	12	5	0	2	5	2	2	0	3	2	7	2	6	0	3	2	1	0	3	4	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:40853218T>A	ENST00000254691.5	+	3	1983	c.1784T>A	c.(1783-1785)aTt>aAt	p.I595N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	595					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGCTCAAATTTTTCAGAGG	0.483																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1783-1785)aTt>aAt		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							117	118	118					5																	40853218		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853218T>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1784T>A	5.37:g.40853218T>A	ENSP00000254691:p.Ile595Asn						p.I595N	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	1859	+			595					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1784T>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686618	0.68157	.	.	ENSG00000132357	ENST00000254691	T	0.13420	2.59	5.49	5.49	0.81192	.	0.437579	0.21007	N	0.081755	T	0.10895	0.0266	L	0.40543	1.245	0.80722	D	1	B	0.34372	0.451	B	0.30179	0.112	T	0.10800	-1.0614	10	0.36615	T	0.2	-6.1588	8.8455	0.35168	0.1667:0.0:0.0:0.8333	.	595	Q9BX69	CARD6_HUMAN	N	595	ENSP00000254691:I595N	ENSP00000254691:I595N	I	+	2	0	CARD6	40888975	0.220000	0.23631	1.000000	0.80357	0.949000	0.60115	0.384000	0.20668	2.311000	0.77944	0.533000	0.62120	ATT		0.483	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40853218	T	A	40853218	3	1	88	1	0	0	0	0	1	0	0	0	2650	1493	52	5	1794	5	CARD6	5	40853218	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		40853218	140062042	18	5880											
RGNEF	64283	broad.mit.edu	37	chr5	73045681	73045681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagatgatgatctatgCgaagtttgacaaaaatgtgt	13	11	13	4	1	1	4	0	3	1	1	1	5	1	4	0	2	1	2	0	2	4	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:73045681C>T	ENST00000426542.2	+	2	73	c.53C>T	c.(52-54)gCg>gTg	p.A18V	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A18V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A18V|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A18V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A18V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A18V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	18					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ATGATCTATGCGAAGTTTGAC	0.443																																						uc010izf.3																			0											c.(52-54)gCg>gTg		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							153	148	149					5																	73045681		1955	4169	6124	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73045681C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.53C>T	5.37:g.73045681C>T	ENSP00000412175:p.Ala18Val					RGNEF_uc011csq.2_Missense_Mutation_p.A18V|RGNEF_uc003kcy.1_Missense_Mutation_p.A18V|RGNEF_uc021yam.1_Missense_Mutation_p.A18V	p.A18V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	2	229	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	18					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.53C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665504	0.47677	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000509848;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.09350	3.24;3.23;3.23;2.99;3.23;3.23	4.9	4.9	0.64082	.	.	.	.	.	T	0.19167	0.0460	L	0.31804	0.96	0.30965	N	0.723172	D;D;D;D	0.89917	0.998;0.979;1.0;0.997	P;B;D;P	0.74348	0.773;0.304;0.983;0.886	T	0.02512	-1.1148	9	0.13108	T	0.6	.	14.2534	0.66035	0.0:0.85:0.15:0.0	.	18;18;18;18	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	V	18	ENSP00000296794:A18V;ENSP00000441913:A18V;ENSP00000441436:A18V;ENSP00000287898:A18V;ENSP00000411459:A18V;ENSP00000412175:A18V	ENSP00000287898:A18V	A	+	2	0	RP11-428C6.1	73081437	1.000000	0.71417	0.918000	0.36340	0.317000	0.28152	3.339000	0.52135	2.276000	0.75962	0.655000	0.94253	GCG		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73045681	C	T	73045681	3	4	88	1	0	0	0	0	1	0	0	0	13283	768	27	1	59	1	RGNEF	5	73045681	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	32192463	73045681	107869579	19	5881											
GABRA6	2559	broad.mit.edu	37	chr5	161119124	161119124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatcttcagacacagaaggCcaaaaggaaggcacagtttg	16	6	10	9	0	2	2	1	0	1	2	2	3	2	3	1	3	0	2	1	3	5	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:161119124C>T	ENST00000274545.5	+	8	1437	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.A325V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	335					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACACAGAAGGCCAAAAGGAAG	0.438										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1003-1005)gCc>gTc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						162	139	147					5																	161119124		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119124C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1004C>T	5.37:g.161119124C>T	ENSP00000274545:p.Ala335Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.A106V	p.A335V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1342	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	335					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1004C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119678	0.37436	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85556	-2.0;-2.0	5.04	3.24	0.37175	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.873430	0.00839	N	0.001738	D	0.85796	0.5780	L	0.47016	1.485	0.38774	D	0.954618	B	0.20459	0.045	B	0.35353	0.201	T	0.61778	-0.6993	10	0.30854	T	0.27	.	11.6608	0.51345	0.0:0.8519:0.0:0.1481	.	335	Q16445	GBRA6_HUMAN	V	335;325	ENSP00000274545:A335V;ENSP00000430527:A325V	ENSP00000274545:A335V	A	+	2	0	GABRA6	161051702	1.000000	0.71417	0.989000	0.46669	0.678000	0.39670	3.593000	0.54001	1.111000	0.41721	0.557000	0.71058	GCC		0.438	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161119124	C	T	161119124	3	4	88	1	0	0	0	0	1	0	0	0	6165	739	26	3	1034	3	GABRA6	5	161119124	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	88073443	161119124	19796136	20	5882											
TLX3	30012	broad.mit.edu	37	chr5	170736674	170736674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccggggccgtgccacCgcctctgccaagcgcgctac	4	5	13	19	5	1	0	0	0	1	0	1	0	1	0	6	2	5	2	6	2	2	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:170736674C>T	ENST00000296921.5	+	1	387	c.305C>T	c.(304-306)cCg>cTg	p.P102L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	102					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGTGCCACCGCCTCTGCCA	0.701			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.3				Dom	yes		5	5q35.1	30012	T	"T-cell leukemia, homeobox 3 (HOX11L2)"			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(304-306)cCg>cTg		Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.							8	10	9					5																	170736674		2122	4177	6299	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170736674C>T	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.305C>T	5.37:g.170736674C>T	ENSP00000296921:p.Pro102Leu					AX746723_uc003mbe.1_5'Flank	p.P102L	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		0	387	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	102					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.305C>T	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231888	0.39399	.	.	ENSG00000164438	ENST00000296921	D	0.91996	-2.95	4.4	4.4	0.53042	.	0.196730	0.43110	D	0.000607	D	0.87834	0.6277	M	0.61703	1.905	0.46749	D	0.999188	P	0.37525	0.598	B	0.29524	0.103	D	0.86403	0.1743	10	0.09084	T	0.74	.	15.9465	0.79799	0.0:1.0:0.0:0.0	.	102	O43711	TLX3_HUMAN	L	102	ENSP00000296921:P102L	ENSP00000296921:P102L	P	+	2	0	TLX3	170669279	0.501000	0.26099	1.000000	0.80357	0.804000	0.45430	0.952000	0.29149	2.293000	0.77203	0.555000	0.69702	CCG		0.701	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			T	170736674	C	T	170736674	3	4	88	1	0	0	0	0	1	0	0	0	15959	652	23	2	307	2	TLX3	5	170736674	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	9617550	170736674	10178586	21	5883											
DNAH11	8701	broad.mit.edu	37	chr7	21784532	21784532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacagcccctcatttattgCcactttgctgatagagggaa	11	11	8	11	0	1	2	1	1	0	1	1	3	1	3	3	1	4	1	3	1	4	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:21784532C>T	ENST00000409508.3	+	51	8392	c.8361C>T	c.(8359-8361)tgC>tgT	p.C2787C	DNAH11_ENST00000328843.6_Silent_p.C2794C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2794					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATTTATTGCCACTTTGCTG	0.448									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8380-8382)tgC>tgT		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							82	76	78					7																	21784532		1982	4170	6152	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21784532C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8361C>T	7.37:g.21784532C>T							p.C2794C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			51	8413	+			2794					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.8382C>T																																																																																					0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21784532	C	T	21784532	2	4	88	1	0	0	0	0	0	0	0	1	4599	747	26	3		3	DNAH11	7	21784532	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		21784532	137354131	22	5884											
OR6V1	346517	broad.mit.edu	37	chr7	142749846	142749846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggcactctgatgagccggGctatgtgtgtccagctggct	6	11	14	10	1	1	2	0	2	1	0	2	2	2	2	2	3	2	4	2	3	1	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:142749846G>T	ENST00000418316.1	+	1	430	c.409G>T	c.(409-411)Gct>Tct	p.A137S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GATGAGCCGGGCTATGTGTGT	0.597																																						uc011ksv.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(409-411)Gct>Tct		Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.							73	80	78					7																	142749846		2146	4271	6417	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749846G>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.409G>T	7.37:g.142749846G>T	ENSP00000396085:p.Ala137Ser						p.A137S	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			0	409	+	Melanoma(164;0.059)		137					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.409G>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489623	0.26686	.	.	ENSG00000225781	ENST00000418316	T	0.01335	5.0	4.26	0.0996	0.14503	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00754	0.0025	N	0.03115	-0.41	0.09310	N	1	B	0.22414	0.069	B	0.23574	0.047	T	0.48790	-0.9004	9	0.59425	D	0.04	.	0.8418	0.01152	0.2832:0.1643:0.3846:0.168	.	137	Q8N148	OR6V1_HUMAN	S	137	ENSP00000396085:A137S	ENSP00000396085:A137S	A	+	1	0	OR6V1	142459968	0.000000	0.05858	0.978000	0.43139	0.959000	0.62525	-0.825000	0.04433	0.068000	0.16574	0.655000	0.94253	GCT		0.597	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			T	142749846	G	T	142749846	3	4	88	1	0	0	0	0	1	0	0	0	11211	1203	42	5	411	5	OR6V1	7	142749846	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	120965314	142749846	16388817	23	5885											
TEX15	56154	broad.mit.edu	37	chr8	30695499	30695499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcaaccttttttggCgttaaatgatttcttttcag	8	20	6	7	1	3	1	2	1	1	0	3	1	3	1	1	1	2	2	1	1	3	8	rs369884354		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:30695499C>T	ENST00000256246.2	-	3	7226	c.7152G>A	c.(7150-7152)acG>acA	p.T2384T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2384					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCTTTTTTGGCGTTAAATGAT	0.388																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7150-7152)acG>acA		Homo sapiens testis expressed 15 (TEX15), mRNA.		C		0,4406		0,0,2203	169	169	169		7152	-1	0	8		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TEX15	NM_031271.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2384/2790	30695499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30695499C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7152G>A	8.37:g.30695499C>T							p.T2384T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7152	-			2384						Silent	SNP	ENST00000256246.2	37	c.7152G>A	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30695499	C	T	30695499	2	4	88	1	0	0	0	0	0	0	0	1	15776	755	27	1		1	TEX15	8	30695499	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		30695499	115668523	24	5886											
GPR124	25960	broad.mit.edu	37	chr8	37697018	37697018	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagactgtttccgggcagcTccatccgtgtgtcccggaaa	7	9	12	13	4	0	1	0	0	0	1	4	3	4	2	4	2	1	3	4	2	1	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:37697018T>C	ENST00000412232.2	+	16	2402	c.2389T>C	c.(2389-2391)Tcc>Ccc	p.S797P	GPR124_ENST00000315215.7_Splice_Site_p.S580P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	797					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCCGGGCAGCTCCATCCGTGT	0.592																																						uc003xkj.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.e16-1		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							56	50	52					8																	37697018		2203	4300	6503	SO:0001630	splice_region_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697018T>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2388-1T>C	8.37:g.37697018T>C						GPR124_uc010lvy.3_Splice_Site_p.S579_splice	p.S796_splice	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2774	+			796					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2388_splice	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504897	0.64410	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.46819	0.86;0.86	4.73	4.73	0.59995	GPCR, family 2-like (1);	0.193539	0.45867	D	0.000333	T	0.50086	0.1595	L	0.43152	1.355	0.43435	D	0.995609	P;P	0.52692	0.955;0.949	P;P	0.54815	0.529;0.761	T	0.45877	-0.9231	10	0.38643	T	0.18	-27.7428	9.4894	0.38951	0.1988:0.0:0.0:0.8012	.	580;797	Q96PE1-2;Q96PE1	.;GP124_HUMAN	P	790;580;797	ENSP00000323508:S580P;ENSP00000406367:S797P	ENSP00000323508:S580P	S	+	1	0	GPR124	37816176	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.406000	0.44557	1.987000	0.57996	0.533000	0.62120	TCC		0.592	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		Missense_Mutation	C	37697018	T	C	37697018	5	2	88	1	0	0	0	0	0	0	1	0	6638	1565	54	4	2430	4	GPR124	8	37697018	Splice_Site	SNP	T	TCGA-06-5411-01A-01D-1696-08	7001519	37697018	108667004	25	5887											
TBC1D2	55357	broad.mit.edu	37	chr9	101014108	101014108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccattcccagccagggcgGcatcaggggtggcaggaggt	7	5	17	12	1	1	0	1	0	0	0	2	1	2	1	3	7	1	2	3	7	0	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:101014108G>A	ENST00000375064.1	-	2	508	c.470C>T	c.(469-471)gCc>gTc	p.A157V	TBC1D2_ENST00000375066.5_Missense_Mutation_p.A157V|TBC1D2_ENST00000342112.5_Intron	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	157	Interaction with CADH1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCCAGGGCGGCATCAGGGGT	0.637																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(469-471)gCc>gTc		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							69	64	66					9																	101014108		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101014108G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.470C>T	9.37:g.101014108G>A	ENSP00000364205:p.Ala157Val					TBC1D2_uc004ayq.3_Missense_Mutation_p.A157V|TBC1D2_uc004ayr.3_Intron	p.A157V	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	650	-		Myeloproliferative disorder(762;0.0255)	157			Interaction with CADH1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.470C>T		.	.	.	.	.	.	.	.	.	.	G	14.83	2.653973	0.47362	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.08193	3.41;3.12	5.07	4.08	0.47627	.	0.765902	0.12026	N	0.506434	T	0.11153	0.0272	L	0.60455	1.87	0.19775	N	0.999955	B;B	0.30439	0.183;0.279	B;B	0.28139	0.039;0.086	T	0.08764	-1.0706	10	0.66056	D	0.02	.	11.4655	0.50237	0.0:0.0:0.8079:0.1921	.	157;157	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	V	157	ENSP00000364205:A157V;ENSP00000364207:A157V	ENSP00000364205:A157V	A	-	2	0	TBC1D2	100053929	0.005000	0.15991	0.004000	0.12327	0.295000	0.27426	0.905000	0.28504	2.365000	0.80145	0.305000	0.20034	GCC		0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		A	101014108	G	A	101014108	3	1	88	1	0	0	0	0	1	0	0	0	15605	1203	42	3	2331	3	TBC1D2	9	101014108	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		101014108	40199323	26	5888											
TTLL11	158135	broad.mit.edu	37	chr9	124751932	124751932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgctctggagggtccctgCcaggcggatgtcactggggt	4	9	16	12	1	2	0	1	0	1	0	3	2	3	2	3	6	2	1	3	6	0	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124751932C>T	ENST00000373776.3	-	4	1268	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.A361T	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	361	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGGGTCCCTGCCAGGCGGATG	0.517																																						uc011lyl.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1081-1083)Gca>Aca		Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.							91	96	95					9																	124751932		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751932C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1081G>A	9.37:g.124751932C>T	ENSP00000362881:p.Ala361Thr					TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.A38T|TTLL11_uc004blt.1_Missense_Mutation_p.A361T|TTLL11_uc004blu.1_3'UTR	p.A361T	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN			3	1269	-			361			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1081G>A	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008204	0.35415	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05447	3.44;3.44	5.12	-3.63	0.04529	.	0.663319	0.14352	N	0.325025	T	0.02342	0.0072	N	0.11892	0.195	0.24548	N	0.994034	B;B	0.25809	0.012;0.135	B;B	0.22880	0.007;0.042	T	0.46721	-0.9171	10	0.08599	T	0.76	.	5.5755	0.17220	0.2106:0.3076:0.0:0.4819	.	361;361	F8W6M1;Q8NHH1	.;TTL11_HUMAN	T	361	ENSP00000321346:A361T;ENSP00000362881:A361T	ENSP00000321346:A361T	A	-	1	0	TTLL11	123791753	0.054000	0.20591	0.984000	0.44739	0.994000	0.84299	-0.408000	0.07169	-0.484000	0.06763	-0.300000	0.09419	GCA		0.517	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		T	124751932	C	T	124751932	3	4	88	1	0	0	0	0	1	0	0	0	16721	739	26	3	1423	3	TTLL11	9	124751932	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	23737824	124751932	16461499	27	5889											
TTLL11	158135	broad.mit.edu	37	chr9	124794081	124794081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcaggaaagagattcTgcatggttctcactgctctg	9	12	9	11	0	4	1	2	0	3	1	6	3	5	2	1	2	2	3	1	2	1	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124794081T>A	ENST00000373776.3	-	3	1071	c.884A>T	c.(883-885)cAg>cTg	p.Q295L	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Missense_Mutation_p.Q295L	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AAAGAGATTCTGCATGGTTCT	0.507																																						uc011lyl.2																			0		p.Q295Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(883-885)cAg>cTg		Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.							143	128	133					9																	124794081		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124794081T>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.884A>T	9.37:g.124794081T>A	ENSP00000362881:p.Gln295Leu					TTLL11_uc004blr.3_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blt.1_Missense_Mutation_p.Q295L|TTLL11_uc004blu.1_Intron	p.Q295L	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN			2	1072	-			295			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.884A>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645033	0.67358	.	.	ENSG00000175764	ENST00000321582;ENST00000373778;ENST00000373776	T;T	0.05513	3.43;3.43	5.51	5.51	0.81932	.	0.145674	0.47093	D	0.000254	T	0.08714	0.0216	L	0.42632	1.34	0.58432	D	0.999999	P;B	0.43633	0.813;0.274	B;B	0.44224	0.444;0.27	T	0.37478	-0.9704	10	0.23891	T	0.37	.	13.2854	0.60241	0.0:0.0:0.0:1.0	.	295;295	F8W6M1;Q8NHH1	.;TTL11_HUMAN	L	295;18;295	ENSP00000321346:Q295L;ENSP00000362881:Q295L	ENSP00000321346:Q295L	Q	-	2	0	TTLL11	123833902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.226000	0.72624	0.482000	0.46254	CAG		0.507	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		A	124794081	T	A	124794081	3	1	88	1	0	0	0	0	1	0	0	0	16721	1580	55	5	1624	5	TTLL11	9	124794081	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08	42149	124794081	16419350	28	5890											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292|rs121909224		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141	131	134					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692904	C	T	89692904	4	4	88	1	0	0	0	0	0	1	0	0	12738	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		89692904	45841843	29	5891											
ANO9	338440	broad.mit.edu	37	chr11	420528	420528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttgatggcgtccaggCggatctccacgaggttgctg	6	10	13	12	3	2	1	0	1	2	0	4	3	3	2	3	4	1	2	3	4	0	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:420528C>T	ENST00000332826.6	-	19	1805	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	574					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGCGTCCAGGCGGATCTCCAC	0.682																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1720-1722)cGc>cAc		Homo sapiens anoctamin 9 (ANO9), mRNA.							21	20	21					11																	420528		2198	4289	6487	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420528C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1721G>A	11.37:g.420528C>T	ENSP00000332788:p.Arg574His					ANO9_uc001lph.2_Missense_Mutation_p.R267H|ANO9_uc010qvv.1_Missense_Mutation_p.R430H	p.R574H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			18	1806	-			574					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1721G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308245	0.81247	.	.	ENSG00000185101	ENST00000332826	T	0.69926	-0.44	4.08	4.08	0.47627	.	0.079234	0.46758	U	0.000265	T	0.72835	0.3510	M	0.90145	3.09	0.58432	D	0.999995	P;P	0.48162	0.761;0.906	B;B	0.43103	0.286;0.408	T	0.80115	-0.1517	10	0.62326	D	0.03	.	12.2738	0.54721	0.0:0.9129:0.0:0.0871	.	275;574	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	H	574	ENSP00000332788:R574H	ENSP00000332788:R574H	R	-	2	0	ANO9	410528	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.633000	0.61318	1.984000	0.57885	0.462000	0.41574	CGC		0.682	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	420528	C	T	420528	3	4	88	1	0	0	0	0	1	0	0	0	704	768	27	1	647	1	ANO9	11	420528	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		420528	134585988	30	5892											
OR4D11	219986	broad.mit.edu	37	chr11	59271634	59271634	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgacacttttgctcttGagttcttgatgatttccaac	8	16	7	10	0	2	4	0	4	2	0	3	4	3	4	1	0	2	3	1	0	1	6			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:59271634G>T	ENST00000313253.1	+	1	586	c.586G>T	c.(586-588)Gag>Tag	p.E196*		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTGCTCTTGAGTTCTTGAT	0.493																																						uc001noa.1																			0		p.L195H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(586-588)Gag>Tag		Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.							227	215	219					11																	59271634		2201	4295	6496	SO:0001587	stop_gained	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271634G>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.586G>T	11.37:g.59271634G>T	ENSP00000320077:p.Glu196*						p.E196*	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			0	586	+			196						Nonsense_Mutation	SNP	ENST00000313253.1	37	c.586G>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106811	0.37145	.	.	ENSG00000176200	ENST00000313253	.	.	.	5.44	4.53	0.55603	.	0.000000	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.2443	12.8901	0.58066	0.0792:0.0:0.9208:0.0	.	.	.	.	X	196	.	ENSP00000320077:E196X	E	+	1	0	OR4D11	59028210	0.952000	0.32445	0.848000	0.33437	0.072000	0.16883	3.915000	0.56409	1.304000	0.44892	0.557000	0.71058	GAG		0.493	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		T	59271634	G	T	59271634	4	4	88	1	0	0	0	0	0	1	0	0	11055	1291	45	5	588	5	OR4D11	11	59271634	Nonsense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	58851106	59271634	75734882	31	5893											
CTTN	2017	broad.mit.edu	37	chr11	70255986	70255986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagagcatcagacccttaagGagaaggaacttgaaacagga	18	5	11	7	0	1	4	1	1	0	3	1	7	1	6	1	3	3	1	1	3	5	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:70255986G>A	ENST00000301843.8	+	5	417	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CTTN_ENST00000346329.3_Missense_Mutation_p.E71K|CTTN_ENST00000376561.3_Missense_Mutation_p.E71K|CTTN_ENST00000527622.1_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	71					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GACCCTTAAGGAGAAGGAACT	0.468																																						uc001opv.4																			0		p.K70N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(211-213)Gag>Aag		Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.							209	207	207					11																	70255986		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70255986G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.211G>A	11.37:g.70255986G>A	ENSP00000301843:p.Glu71Lys					CTTN_uc001opu.3_Missense_Mutation_p.E71K|CTTN_uc001opw.4_Missense_Mutation_p.E71K	p.E71K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	4	417	+			71					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.211G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302285	0.05495	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.27890	1.71;1.69;1.64	5.12	4.19	0.49359	.	0.111189	0.64402	N	0.000009	T	0.12561	0.0305	N	0.02721	-0.515	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.13407	0.006;0.009;0.002	T	0.12528	-1.0544	10	0.05721	T	0.95	-66.2766	14.9014	0.70681	0.0:0.0:0.8554:0.1446	.	71;71;71	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	K	71	ENSP00000317189:E71K;ENSP00000301843:E71K;ENSP00000365745:E71K	ENSP00000301843:E71K	E	+	1	0	CTTN	69933634	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	2.684000	0.46951	1.122000	0.41944	-0.311000	0.09066	GAG		0.468	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		A	70255986	G	A	70255986	3	1	88	1	0	0	0	0	1	0	0	0	4044	1175	41	3	221	3	CTTN	11	70255986	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	10984352	70255986	64750530	32	5894											
PRB3	5544	broad.mit.edu	37	chr12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420518G>A	ENST00000279573.7	-	3	800	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB3_ENST00000538488.1_Missense_Mutation_p.P201L|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617																																						uc001qzs.3																			0		p.R221S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25						c.(664-666)cCg>cTg		Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.							67	32	44					12																	11420518		1671	3268	4939	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420518G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.665C>T	12.37:g.11420518G>A	ENSP00000279573:p.Pro222Leu					PRB4_uc001qzf.1_Intron	p.P222L	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		2	703	-			222			10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.665C>T		.	.	.	.	.	.	.	.	.	.	.	6.581	0.475470	0.12521	.	.	ENSG00000197870	ENST00000538488	T	0.06608	3.28	1.25	0.0362	0.14191	.	0.262416	0.17612	U	0.168043	T	0.10078	0.0247	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.52343	0.696	T	0.13335	-1.0513	9	0.62326	D	0.03	.	5.8164	0.18495	0.0:0.0:0.3623:0.6377	.	222	Q04118	PRB3_HUMAN	L	201	ENSP00000442626:P201L	ENSP00000442626:P201L	P	-	2	0	PRB3	11311785	0.003000	0.15002	0.002000	0.10522	0.010000	0.07245	1.332000	0.33805	-0.002000	0.14469	0.194000	0.17425	CCG		0.617	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		A	11420518	G	A	11420518	3	1	88	1	0	0	0	0	1	0	0	0	12444	1116	39	2	272	2	PRB3	12	11420518	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		11420518	122431377	33	5895			1	21		2	2	64	G		9.97148e-05
PRB3	5544	broad.mit.edu	37	chr12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000538488.1_Missense_Mutation_p.P180L|PRB3_ENST00000381842.3_Missense_Mutation_p.P201L|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632																																						uc001qzs.3																			0		p.R200C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25						c.(601-603)cCg>cTg		Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.							83	114	104					12																	11420581		1628	3653	5281	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420581G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.602C>T	12.37:g.11420581G>A	ENSP00000279573:p.Pro201Leu					PRB4_uc001qzf.1_Intron	p.P201L	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		2	640	-			201		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.602C>T		.	.	.	.	.	.	.	.	.	.	.	7.574	0.667426	0.14710	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.06608	3.34;3.28	0.894	0.894	0.19242	.	0.000000	0.26109	U	0.026296	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.63877	0.919	T	0.04320	-1.0960	9	0.49607	T	0.09	.	4.1826	0.10383	0.0:0.0:0.6006:0.3994	.	201	Q04118	PRB3_HUMAN	L	201;180	ENSP00000371264:P201L;ENSP00000442626:P180L	ENSP00000279573:P201L	P	-	2	0	PRB3	11311848	0.099000	0.21834	0.002000	0.10522	0.018000	0.09664	2.322000	0.43814	0.809000	0.34255	0.134000	0.15878	CCG		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		A	11420581	G	A	11420581	3	1	88	1	0	0	0	0	1	0	0	0	12444	1116	39	2	335	2	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	63	11420581	122431314	34	5896			1	21		2	2	64	G		9.97148e-05
MYF6	4618	broad.mit.edu	37	chr12	81101720	81101720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctccacactgcccCggccagtgtctgatctgggc	5	8	11	17	1	2	1	0	1	2	0	3	1	3	1	5	2	3	1	5	2	0	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:81101720C>T	ENST00000228641.3	+	1	444	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	74					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CACACTGCCCCGGCCAGTGTC	0.652																																						uc001szf.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(220-222)ccC>ccT		Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.							29	36	34					12																	81101720		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101720C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.222C>T	12.37:g.81101720C>T							p.P74P	NM_002469	NP_002460	P23409	MYF6_HUMAN			0	313	+			74					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.222C>T	CCDS9019.1																																																																																				0.652	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		T	81101720	C	T	81101720	2	4	88	1	0	0	0	0	0	0	0	1	10028	639	23	2		2	MYF6	12	81101720	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08	69681139	81101720	52750175	35	5897											
UBC	7316	broad.mit.edu	37	chr12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctgg	8	12	8	13	1	3	1	1	0	2	1	5	1	5	1	3	2	3	4	3	2	2	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						uc001ugs.4																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1048-1050)gCc>gTc		Homo sapiens ubiquitin C (UBC), mRNA.							191	172	179					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.A350V|UBC_uc001ugu.1_Missense_Mutation_p.A350V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.A350V|UBC_uc001ugw.3_Missense_Mutation_p.A198V	p.A350V	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1507	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		A	125397269	G	A	125397269	3	1	88	1	0	0	0	0	1	0	0	0	16839	1203	42	3	1012	3	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	44295549	125397269	8454626	36	5898											
CCNA1	8900	broad.mit.edu	37	chr13	37011790	37011790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagaatcaggtgttatTctggatcagaaaatgccttc	13	12	8	8	0	4	2	3	0	1	2	5	3	4	3	1	2	1	1	1	2	5	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr13:37011790T>A	ENST00000255465.4	+	3	586	c.322T>A	c.(322-324)Tct>Act	p.S108T	CCNA1_ENST00000418263.1_Missense_Mutation_p.S107T|CCNA1_ENST00000440264.1_Missense_Mutation_p.S64T|CCNA1_ENST00000449823.1_Missense_Mutation_p.S64T|CCNA1_ENST00000463403.1_3'UTR			P78396	CCNA1_HUMAN	cyclin A1	108					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGTGTTATTCTGGATCAGA	0.468																																						uc001uvr.4																			0		p.Y107Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(322-324)Tct>Act		Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.							109	118	115					13																	37011790		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011790T>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.322T>A	13.37:g.37011790T>A	ENSP00000255465:p.Ser108Thr					CCNA1_uc010teo.2_Missense_Mutation_p.S64T|CCNA1_uc010abq.3_Missense_Mutation_p.S64T|CCNA1_uc010abp.3_Missense_Mutation_p.S64T|CCNA1_uc001uvs.4_Missense_Mutation_p.S107T|CCNA1_uc010abr.3_Non-coding_Transcript	p.S108T	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	2	672	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	108					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.322T>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860855	0.51482	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21361	2.12;2.12;2.01;2.01	5.47	2.97	0.34412	.	0.346395	0.34555	N	0.003876	T	0.18467	0.0443	M	0.62723	1.935	0.32217	N	0.575713	B;B	0.25772	0.134;0.083	B;B	0.23419	0.046;0.014	T	0.13469	-1.0508	10	0.31617	T	0.26	.	5.0412	0.14460	0.0:0.1645:0.1539:0.6816	.	107;108	P78396-2;P78396	.;CCNA1_HUMAN	T	64;64;107;108	ENSP00000400666:S64T;ENSP00000409873:S64T;ENSP00000396479:S107T;ENSP00000255465:S108T	ENSP00000255465:S108T	S	+	1	0	CCNA1	35909790	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	1.278000	0.33179	0.337000	0.23665	0.374000	0.22700	TCT		0.468	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37011790	T	A	37011790	3	1	88	1	0	0	0	0	1	0	0	0	2909	1783	62	5	332	5	CCNA1	13	37011790	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		37011790	78158088	37	5899											
C15orf2	23742	broad.mit.edu	37	chr15	24921520	24921520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggatccggtgcagaTcgaaggggaggatgacgaga	12	5	19	5	3	0	4	0	2	0	2	2	10	1	8	1	6	1	1	1	6	1	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr15:24921520T>C	ENST00000329468.2	+	1	980	c.506T>C	c.(505-507)aTc>aCc	p.I169T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	169					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCGGTGCAGATCGAAGGGGAG	0.612																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(505-507)aTc>aCc		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							44	38	40					15																	24921520		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921520T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.506T>C	15.37:g.24921520T>C	ENSP00000333735:p.Ile169Thr						p.I169T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	980	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	169						Missense_Mutation	SNP	ENST00000329468.2	37	c.506T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	1.246	-0.620075	0.03636	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	2.12	-0.608	0.11611	.	.	.	.	.	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B	0.24092	0.097	B	0.18561	0.022	T	0.44483	-0.9325	9	0.15499	T	0.54	.	2.7646	0.05316	0.0:0.4798:0.304:0.2161	.	169	Q9NZP6	CO002_HUMAN	T	169	ENSP00000333735:I169T	ENSP00000333735:I169T	I	+	2	0	C15orf2	22472613	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.240000	0.02914	0.169000	0.19679	-0.495000	0.04643	ATC		0.612	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		C	24921520	T	C	24921520	3	2	88	1	0	0	0	0	1	0	0	0	1784	1435	50	4	508	4	C15orf2	15	24921520	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		24921520	77609872	38	5900											
MYO15A	51168	broad.mit.edu	37	chr17	18024801	18024801	+	Frame_Shift_Del	DEL	G	G	-																															gcccttccaccgaccgcccaGggccggggcctggcgggcgc																										TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr17:18024801delG	ENST00000205890.5	+	2	3025	c.2687delG	c.(2686-2688)aggfs	p.R896fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	896					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACCGCCCAGGGCCGGGGCC	0.741																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(2686-2688)aggfs		Homo sapiens myosin XVA (MYO15A), mRNA.							2	3	2					17																	18024801		1376	3189	4565	SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18024801delG	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2687delG	17.37:g.18024801delG	ENSP00000205890:p.Arg896fs					MYO15A_uc021trl.1_Frame_Shift_Del_p.R896fs	p.R896fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			0	2906	+	all_neural(463;0.228)		896			Myosin head-like.		B4DFC7	Frame_Shift_Del	DEL	ENST00000205890.5	37	c.2687delG	CCDS42271.1																																																																																				0.741	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		-	18024801	G	-	18024801	7	5	88	1	0	1	0	1	0	0	0	0	10063	1000	35	0	2689	0	MYO15A	17	18024801	Frame_Shift_Del	DEL	G	TCGA-06-5411-01A-01D-1696-08		18024801	63170409	39	5901											
DSG4	147409	broad.mit.edu	37	chr18	28992962	28992962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatccaaaatttaggactCttgctgagatctgcttaaac	13	13	7	8	0	2	2	0	1	2	2	3	4	3	3	1	1	3	2	1	1	6	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:28992962C>T	ENST00000308128.4	+	16	2662	c.2527C>T	c.(2527-2529)Ctt>Ttt	p.L843F	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L862F	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	843					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTTAGGACTCTTGCTGAGAT	0.438																																						uc002kwr.2																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2584-2586)Ctt>Ttt		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							143	134	137					18																	28992962		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992962C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2527C>T	18.37:g.28992962C>T	ENSP00000311859:p.Leu843Phe					DSG4_uc002kwq.2_Missense_Mutation_p.L843F	p.L862F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2719	+			843					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2584C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483431	0.63962	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	D;D	0.88124	-2.34;-2.34	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.94574	0.8252	M	0.92507	3.315	0.35045	D	0.760105	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97814	1.0252	9	0.87932	D	0	.	12.5637	0.56297	0.0:0.8809:0.0:0.1191	.	862;843	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	F	843;862	ENSP00000311859:L843F;ENSP00000352785:L862F	ENSP00000311859:L843F	L	+	1	0	DSG4	27246960	0.773000	0.28580	1.000000	0.80357	0.989000	0.77384	1.076000	0.30729	2.650000	0.89964	0.650000	0.86243	CTT		0.438	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28992962	C	T	28992962	3	4	88	1	0	0	0	0	1	0	0	0	4779	913	32	3	2710	3	DSG4	18	28992962	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		28992962	49084286	40	5902											
LMAN1	3998	broad.mit.edu	37	chr18	57014768	57014768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttttccaggttcagtcaActggaaagtcagaaaagaaa	15	10	8	8	0	4	2	3	0	1	2	5	3	5	3	1	2	1	1	1	2	5	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:57014768A>G	ENST00000251047.5	-	7	1516	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	267	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGTTCAGTCAACTGGAAAGTC	0.313																																						uc002lhz.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(799-801)Ttg>Ctg		Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	Antihemophilic Factor(DB00025)						34	38	37					18																	57014768		2203	4300	6503	SO:0001819	synonymous_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57014768A>G	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.799T>C	18.37:g.57014768A>G							p.L267L	NM_005570	NP_005561	P49257	LMAN1_HUMAN			6	831	-		Colorectal(73;0.0946)	267			L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Silent	SNP	ENST00000251047.5	37	c.799T>C	CCDS11974.1																																																																																				0.313	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		G	57014768	A	G	57014768	2	3	88	1	0	0	0	0	0	0	0	1	8836	40	2	4		4	LMAN1	18	57014768	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	28021806	57014768	21062480	41	5903											
CEACAM20	125931	broad.mit.edu	37	chr19	45016954	45016954	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtggggtgctcctcCttcgggatgggttgtgaggt	2	13	18	8	1	1	1	0	1	1	0	4	2	3	2	2	6	1	3	2	6	0	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:45016954C>T	ENST00000454753.1	-	0	1764							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGTGCTCCTCCTTCGGGATGG	0.587											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(1483-1485)aaG>aaA		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							99	104	102					19																	45016954		1932	4131	6063			125931					integral to membrane		g.chr19:45016954C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016954C>T			OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928	CEACAM20_uc010ejo.1_Silent_p.K495K|CEACAM20_uc010ejp.1_Silent_p.K402K|CEACAM20_uc010ejq.1_Silent_p.K402K	p.K495K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			8	1501	-		Prostate(69;0.0352)	495						Silent	SNP	ENST00000454753.1	37	c.1485G>A																																																																																					0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		T	45016954	C	T	45016954	1	4	88	0	1	0	0	0	0	0	0	0	3191	690	24	3		3	CEACAM20	19	45016954	RNA	SNP	C	TCGA-06-5411-01A-01D-1696-08		45016954	14112029	42	5904											
A1BG	1	broad.mit.edu	37	chr19	58858802	58858802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagcggcacctgtagttgCcggcgtgctggggccccacg	4	7	17	13	4	0	0	0	0	0	0	0	0	0	0	4	5	3	5	4	5	2	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:58858802C>T	ENST00000263100.3	-	7	1458	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG_ENST00000596924.1_5'UTR|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	466	Ig-like V-type 5.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTGTAGTTGCCGGCGTGCTG	0.692																																						uc002qsd.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(1396-1398)gGc>gAc		Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.							18	22	20					19																	58858802		2196	4297	6493	SO:0001583	missense	1					extracellular region		g.chr19:58858802C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.1397G>A	19.37:g.58858802C>T	ENSP00000263100:p.Gly466Asp					A1BG-AS1_uc002qse.3_5'Flank	p.G466D	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	6	1459	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	466			Ig-like V-type 5.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.1397G>A	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218866	0.79464	.	.	ENSG00000121410	ENST00000263100	T	0.01572	4.76	3.68	3.68	0.42216	Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000564	T	0.12902	0.0313	M	0.92649	3.33	0.32621	N	0.523343	D	0.89917	1.0	D	0.97110	1.0	T	0.08576	-1.0715	10	0.87932	D	0	.	11.1708	0.48571	0.0:1.0:0.0:0.0	.	466	P04217	A1BG_HUMAN	D	466	ENSP00000263100:G466D	ENSP00000263100:G466D	G	-	2	0	A1BG	63550614	0.000000	0.05858	0.981000	0.43875	0.784000	0.44337	-0.180000	0.09754	2.101000	0.63845	0.460000	0.39030	GGC		0.692	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		T	58858802	C	T	58858802	3	4	88	1	0	0	0	0	1	0	0	0	1	739	26	3	98	3	A1BG	19	58858802	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	13841848	58858802	270181	43	5905											
KIF16B	55614	broad.mit.edu	37	chr20	16337022	16337022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttgcccgcagaggaCgtagcgtgggatactaattt	8	12	11	10	3	0	1	0	0	0	1	1	3	1	3	2	2	3	2	2	2	3	6			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:16337022C>T	ENST00000354981.2	-	23	3731	c.3574G>A	c.(3574-3576)Gtc>Atc	p.V1192I	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Missense_Mutation_p.V1192I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1192	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCAGAGGACGTAGCGTGGG	0.498																																						uc002wpg.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3574-3576)Gtc>Atc		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							134	105	115					20																	16337022		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16337022C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3574G>A	20.37:g.16337022C>T	ENSP00000347076:p.Val1192Ile					KIF16B_uc002wpe.1_Missense_Mutation_p.V574I|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Missense_Mutation_p.V1141I	p.V1192I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			22	3733	-			1192			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3574G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794209	0.50102	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997	T;T	0.28895	1.59;1.59	5.6	4.65	0.58169	Phox homologous domain (4);	.	.	.	.	T	0.18964	0.0455	N	0.11560	0.145	0.80722	D	1	B	0.17268	0.021	B	0.15052	0.012	T	0.04723	-1.0931	9	0.51188	T	0.08	.	14.27	0.66147	0.0:0.9284:0.0:0.0715	.	1192	Q96L93	KI16B_HUMAN	I	1192;1192;1036	ENSP00000347076:V1192I;ENSP00000347995:V1192I	ENSP00000347076:V1192I	V	-	1	0	KIF16B	16285022	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.479000	0.53165	2.795000	0.96236	0.643000	0.83706	GTC		0.498	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		T	16337022	C	T	16337022	3	4	88	1	0	0	0	0	1	0	0	0	8278	536	19	1	395	1	KIF16B	20	16337022	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		16337022	46688498	44	5906											
PCK1	5105	broad.mit.edu	37	chr20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgacggattcaccctacGtggtggccagcatgcggatc	8	8	13	12	3	1	1	1	1	0	0	2	3	1	3	2	4	4	2	2	4	1	2	rs368269624		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:56137841G>A	ENST00000319441.4	+	4	660	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	166					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTCACCCTACGTGGTGGCCAG	0.617																																						uc002xyn.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(496-498)Gtg>Atg		Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.		G	MET/VAL	0,4406		0,0,2203	72	61	65		496	5.1	1	20		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK1	NM_002591.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	166/623	56137841	1,13005	2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137841G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.496G>A	20.37:g.56137841G>A	ENSP00000319814:p.Val166Met					PCK1_uc010zzm.2_Intron	p.V166M	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		3	659	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		166					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.496G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524913	0.85600	0.0	1.16E-4	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.10860	2.83;2.83	5.13	5.13	0.70059	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73953	-0.3820	10	0.87932	D	0	-43.4513	18.9476	0.92627	0.0:0.0:1.0:0.0	.	166	P35558	PCKGC_HUMAN	M	166;34	ENSP00000319814:V166M;ENSP00000444342:V34M	ENSP00000319814:V166M	V	+	1	0	PCK1	55571247	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.015000	0.93640	2.543000	0.85770	0.655000	0.94253	GTG		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56137841	G	A	56137841	3	1	88	1	0	0	0	0	1	0	0	0	11581	1145	40	1	506	1	PCK1	20	56137841	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	39800819	56137841	6887679	45	5907											
NRIP1	8204	broad.mit.edu	37	chr21	16340303	16340303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagacccctgatatgtatGtgtattgagaactggaccat	11	11	10	9	0	0	3	0	2	0	2	0	5	0	4	4	1	1	2	4	1	4	4			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:16340303G>A	ENST00000400202.1	-	3	923	c.211C>T	c.(211-213)Cat>Tat	p.H71Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.H71Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.H71Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	71	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATATGTATGTGTATTGAGA	0.458																																						uc021whl.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(211-213)Cat>Tat		Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.							61	54	57					21																	16340303		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16340303G>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.211C>T	21.37:g.16340303G>A	ENSP00000383063:p.His71Tyr					NRIP1_uc002yjx.2_Missense_Mutation_p.H71Y	p.H71Y	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	0	211	-			71					Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.211C>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834973	0.16820	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.07908	3.15;3.15;3.15	5.58	2.46	0.29980	.	0.694414	0.14632	N	0.307744	T	0.04861	0.0131	N	0.19112	0.55	0.24589	N	0.993835	B	0.02656	0.0	B	0.04013	0.001	T	0.44467	-0.9326	10	0.13853	T	0.58	-3.9649	7.5484	0.27781	0.0862:0.0:0.3754:0.5384	.	71	P48552	NRIP1_HUMAN	Y	71	ENSP00000383060:H71Y;ENSP00000383063:H71Y;ENSP00000327213:H71Y	ENSP00000327213:H71Y	H	-	1	0	NRIP1	15262174	0.593000	0.26840	0.921000	0.36526	0.805000	0.45488	1.785000	0.38684	0.706000	0.31912	-0.188000	0.12872	CAT		0.458	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		A	16340303	G	A	16340303	3	1	88	1	0	0	0	0	1	0	0	0	10652	1377	48	3	3269	3	NRIP1	21	16340303	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		16340303	31789592	46	5908											
TIAM1	7074	broad.mit.edu	37	chr21	32639088	32639088	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggccattttcagccagGgactgggggatgctgggggt	6	9	17	9	0	1	0	1	0	0	0	2	2	2	2	3	6	2	1	3	6	0	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:32639088G>C	ENST00000286827.3	-	5	672	c.201C>G	c.(199-201)tcC>tcG	p.S67S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.S67S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	67					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCAGCCAGGGACTGGGGGA	0.617																																						uc002yow.1																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(199-201)tcC>tcG		Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.							50	53	52					21																	32639088		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639088G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.201C>G	21.37:g.32639088G>C						TIAM1_uc011adk.1_Silent_p.S67S|TIAM1_uc011adl.1_Silent_p.S67S|TIAM1_uc002yox.1_Intron	p.S67S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			4	673	-			67					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.201C>G	CCDS13609.1																																																																																				0.617	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		C	32639088	G	C	32639088	2	2	88	1	0	0	0	0	0	0	0	1	15887	1219	43	5		5	TIAM1	21	32639088	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	16298785	32639088	15490807	47	5909											
CBR1	873	broad.mit.edu	37	chr21	37445093	37445093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagaagaaggtgcagaGacccctgtgtacttggccct	10	7	12	12	0	0	3	0	0	0	3	0	4	0	3	4	2	3	2	4	2	3	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:37445093G>T	ENST00000290349.6	+	3	922	c.747G>T	c.(745-747)gaG>gaT	p.E249D	CBR1_ENST00000530908.1_3'UTR|AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	249					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	AAGGTGCAGAGACCCCTGTGT	0.572																																						uc002yvb.1																			0				endometrium(2)|kidney(3)	5						c.(745-747)gaG>gaT		Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	Acetohexamide(DB00414)|Lubiprostone(DB01046)						68	68	68					21																	37445093		2203	4300	6503	SO:0001583	missense	873				drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	g.chr21:37445093G>T		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.747G>T	21.37:g.37445093G>T	ENSP00000290349:p.Glu249Asp					LOC100133286_uc011aea.1_Intron|SETD4_uc002yva.3_Intron|CBR1_uc010gmy.1_3'UTR	p.E249D	NM_001757	NP_001748	P16152	CBR1_HUMAN			2	876	+			249					B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	c.747G>T	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577331	0.28180	.	.	ENSG00000159228	ENST00000290349	T	0.09350	2.99	5.85	2.45	0.29901	NAD(P)-binding domain (1);	0.156920	0.56097	D	0.000024	T	0.07007	0.0178	N	0.20483	0.58	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29427	-1.0012	10	0.25751	T	0.34	-24.3451	11.7406	0.51790	0.2384:0.0:0.7616:0.0	.	249	P16152	CBR1_HUMAN	D	249	ENSP00000290349:E249D	ENSP00000290349:E249D	E	+	3	2	CBR1	36366963	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.679000	0.46909	0.724000	0.32296	-0.136000	0.14681	GAG		0.572	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			T	37445093	G	T	37445093	3	4	88	1	0	0	0	0	1	0	0	0	2708	933	33	5	757	5	CBR1	21	37445093	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	4806005	37445093	10684802	48	5910											
C21orf29	54084	broad.mit.edu	37	chr21	45953585	45953585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatgtccaccgggaggccGcagtccgtggtgagggagaa	9	6	16	10	3	0	2	0	1	0	1	2	4	2	3	4	4	1	1	4	4	2	1	rs201533971	byFrequency	TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:45953585G>A	ENST00000323084.4	-	3	590	c.525C>T	c.(523-525)tgC>tgT	p.C175C	TSPEAR_ENST00000397916.1_Silent_p.C107C	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	175	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCGGGAGGCCGCAGTCCGTGG	0.682													G|||	2	0.000399361	0	0.0014	5008	,	,		13233	0		0	False		,,,				2504	0.001					uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(523-525)tgC>tgT		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.		G		1,4373		0,1,2186	21	21	21		525	0	1	21		21	0,8550		0,0,4275	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6461	AA,AG,GG		0.0,0.0229,0.0077		175/670	45953585	1,12923	2187	4275	6462	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953585G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.525C>T	21.37:g.45953585G>A						TSPEAR_uc010gpv.1_Silent_p.C107C	p.C175C	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			2	591	-			175			TSP N-terminal.			Silent	SNP	ENST00000323084.4	37	c.525C>T	CCDS13712.1																																																																																				0.682	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45953585	G	A	45953585	2	1	88	1	0	0	0	0	0	0	0	1	2124	1079	38	1		1	C21orf29	21	45953585	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	8508492	45953585	2176310	49	5911											
CASZ1	54897	broad.mit.edu	37	chr1	10713867	10713867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcggcagccagggaCgcagaggactgctggctggt	7	5	19	10	2	0	1	0	0	0	1	0	3	0	3	1	6	2	5	1	6	0	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:10713867C>T	ENST00000377022.3	-	11	2564	c.2247G>A	c.(2245-2247)gcG>gcA	p.A749A	CASZ1_ENST00000344008.5_Silent_p.A749A|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	749					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCCAGGGACGCAGAGGACT	0.667																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2245-2247)gcG>gcA		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							33	42	39					1																	10713867		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713867C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2247G>A	1.37:g.10713867C>T						CASZ1_uc001arp.1_Silent_p.A749A|CASZ1_uc009vmx.2_Silent_p.A773A	p.A749A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2567	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	749					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2247G>A	CCDS41246.1																																																																																				0.667	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		T	10713867	C	T	10713867	2	4	89	1	0	0	0	0	0	0	0	1	2685	523	19	1		1	CASZ1	1	10713867	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08		10713867	238536754	1	5912											
GLIS1	148979	broad.mit.edu	37	chr1	54059816	54059816	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgcccgagtgcactcGcatgtggatgagcagcttgt	6	11	12	12	3	1	1	0	1	1	0	3	3	1	2	1	1	3	4	1	1	0	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:54059816G>A	ENST00000312233.2	-	3	1326	c.760C>T	c.(760-762)Cga>Tga	p.R254*		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGTGCACTCGCATGTGGATG	0.652																																						uc001cvr.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(760-762)Cga>Tga		Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.							66	63	64					1																	54059816		2203	4300	6503	SO:0001587	stop_gained	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54059816G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.760C>T	1.37:g.54059816G>A	ENSP00000309653:p.Arg254*						p.R254*	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			2	1327	-			254						Nonsense_Mutation	SNP	ENST00000312233.2	37	c.760C>T	CCDS582.1	.	.	.	.	.	.	.	.	.	.	G	42	9.216320	0.99103	.	.	ENSG00000174332	ENST00000312233	.	.	.	5.13	-0.995	0.10222	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5369	0.76011	0.0:0.0:0.5472:0.4527	.	.	.	.	X	254	.	ENSP00000309653:R254X	R	-	1	2	GLIS1	53832404	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.008000	0.29872	0.028000	0.15324	-0.262000	0.10625	CGA		0.652	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		A	54059816	G	A	54059816	4	1	89	1	0	0	0	0	0	1	0	0	6445	1095	38	1	1134	1	GLIS1	1	54059816	Nonsense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	43345949	54059816	195190805	2	5913											
INADL	10207	broad.mit.edu	37	chr1	62228837	62228837	+	Frame_Shift_Del	DEL	C	C	-																															cacttcagcagtccatcaagCaactgaagggtcaagtaagt																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:62228837delC	ENST00000371158.2	+	3	289	c.175delC	c.(175-177)caafs	p.Q59fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.Q59fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	59	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCCATCAAGCAACTGAAGGG	0.363																																						uc001dab.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(175-177)caafs		Homo sapiens InaD-like (Drosophila) (INADL), mRNA.							57	54	55					1																	62228837		2203	4300	6503	SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62228837delC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.175delC	1.37:g.62228837delC	ENSP00000360200:p.Gln59fs					INADL_uc009waf.1_Frame_Shift_Del_p.Q59fs|INADL_uc001daa.2_Frame_Shift_Del_p.Q59fs	p.Q59fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			2	289	+			59			L27.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Del	DEL	ENST00000371158.2	37	c.175delC	CCDS617.2																																																																																				0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		-	62228837	C	-	62228837	7	5	89	1	0	1	0	1	0	0	0	0	7731	711	25	0	181	0	INADL	1	62228837	Frame_Shift_Del	DEL	C	TCGA-06-5412-01A-01D-1696-08	8169021	62228837	187021784	3	5914											
ITGA10	8515	broad.mit.edu	37	chr1	145532131	145532131	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcacagaagggttcagtCagtcccatgggggccgaccc	9	6	13	13	1	3	1	3	0	0	1	4	2	4	1	3	3	1	2	3	3	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:145532131C>T	ENST00000369304.3	+	8	950	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.Q128*|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.Q116*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	259	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGGTTCAGTCAGTCCCATGG	0.542																																						uc001eoa.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(775-777)Cag>Tag		Homo sapiens integrin, alpha 10 (ITGA10), mRNA.							94	93	93					1																	145532131		2203	4300	6503	SO:0001587	stop_gained	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532131C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.775C>T	1.37:g.145532131C>T	ENSP00000358310:p.Gln259*					ITGA10_uc010oyv.2_Nonsense_Mutation_p.Q128*|ITGA10_uc009wiw.3_Nonsense_Mutation_p.Q116*|ITGA10_uc010oyw.2_Nonsense_Mutation_p.Q204*	p.Q259*	NM_003637	NP_003628	O75578	ITA10_HUMAN			7	851	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		259			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	c.775C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633562	0.87660	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.2	3.25	0.37280	.	1.045980	0.07450	N	0.898914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2335	0.54500	0.0:0.6725:0.3275:0.0	.	.	.	.	X	259;225;116;128	.	ENSP00000358310:Q259X	Q	+	1	0	ITGA10	144243488	0.807000	0.29009	0.995000	0.50966	0.981000	0.71138	1.679000	0.37597	0.646000	0.30693	0.511000	0.50034	CAG		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		T	145532131	C	T	145532131	4	4	89	1	0	0	0	0	0	1	0	0	7873	827	29	3	805	3	ITGA10	1	145532131	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	83303294	145532131	103718490	4	5915											
CRTC2	200186	broad.mit.edu	37	chr1	153923904	153923904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagggtaagagggggcGcccaaaacaggagatgaagt	15	3	17	6	1	0	3	0	1	0	2	0	5	0	3	1	4	2	2	1	4	5	1	rs201148360		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:153923904G>A	ENST00000368633.1	-	11	1363	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	CRTC2_ENST00000368630.3_Silent_p.G92G|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	412					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGAGGGGGCGCCCAAAACAG	0.672													G|||	1	0.000199681	0	0	5008	,	,		14971	0		0	False		,,,				2504	0.001					uc021pab.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1234-1236)ggC>ggT		Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.		G		1,4401		0,1,2200	16	18	17		1236	-9.3	0.5	1		17	0,8598		0,0,4299	no	coding-synonymous	CRTC2	NM_181715.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		412/694	153923904	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153923904G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1236C>T	1.37:g.153923904G>A						CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	p.G412G	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1395	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		412					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.1236C>T	CCDS30875.1																																																																																				0.672	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153923904	G	A	153923904	2	1	89	1	0	0	0	0	0	0	0	1	3900	1074	38	1		1	CRTC2	1	153923904	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	8391773	153923904	95326717	5	5916											
C1orf69	200205	broad.mit.edu	37	chr1	228362896	228362896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaacctggccttcatgaaCggcgtgagcttcaccaaagg	10	8	10	13	2	2	2	2	2	0	0	3	2	3	2	4	3	3	1	4	3	3	2	rs375524486		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:228362896C>T	ENST00000366711.3	+	3	755	c.753C>T	c.(751-753)aaC>aaT	p.N251N	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.N58N	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	251					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTTCATGAACGGCGTGAGCT	0.647																																						uc001hsl.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(751-753)aaC>aaT		Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.							66	67	66					1																	228362896		2203	4298	6501	SO:0001819	synonymous_variant	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362896C>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.753C>T	1.37:g.228362896C>T						IBA57_uc010pvw.2_Silent_p.N58N	p.N251N	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			2	842	+			251						Silent	SNP	ENST00000366711.3	37	c.753C>T	CCDS31046.1																																																																																				0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		T	228362896	C	T	228362896	2	4	89	1	0	0	0	0	0	0	0	1	2057	535	19	1		1	C1orf69	1	228362896	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	74438992	228362896	20887725	6	5917											
ZNF496	84838	broad.mit.edu	37	chr1	247464120	247464120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaccggctggagtctgtCcggctgcaggtgtatccgcc	4	9	13	15	3	1	0	0	0	1	0	4	1	4	1	5	4	1	4	5	4	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:247464120C>T	ENST00000294753.4	-	9	1929	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.D525N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	489					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGTCTGTCCGGCTGCAGG	0.642																																						uc009xgv.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1573-1575)Gac>Aac		Homo sapiens zinc finger protein 496 (ZNF496), mRNA.							53	59	57					1																	247464120		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464120C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1465G>A	1.37:g.247464120C>T	ENSP00000294753:p.Asp489Asn					ZNF496_uc001ico.3_Missense_Mutation_p.D489N	p.D525N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		7	1610	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		489					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1573G>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168989	0.38315	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07444	3.19;3.19	4.05	1.11	0.20524	Zinc finger, C2H2 (1);	1.417150	0.04430	N	0.369108	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	P;B	0.41848	0.763;0.244	B;B	0.37144	0.242;0.04	T	0.37619	-0.9698	10	0.32370	T	0.25	-8.1882	7.4466	0.27215	0.0:0.684:0.0:0.316	.	525;489	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	N	489;525	ENSP00000294753:D489N;ENSP00000355454:D525N	ENSP00000294753:D489N	D	-	1	0	ZNF496	245530743	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.390000	0.20768	0.462000	0.27095	0.655000	0.94253	GAC		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		T	247464120	C	T	247464120	3	4	89	1	0	0	0	0	1	0	0	0	17942	855	30	3	302	3	ZNF496	1	247464120	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	19101224	247464120	1786501	7	5918											
OR2G6	391211	broad.mit.edu	37	chr1	248685052	248685052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcattttgtacttctaCgtcttgagccttctggggaa	7	15	9	10	1	4	1	1	1	3	0	4	2	4	2	2	2	3	1	2	2	3	7			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:248685052C>T	ENST00000343414.4	+	1	137	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCTACGTCTTGAGCC	0.463																																						uc001ien.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(103-105)taC>taT		Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.							169	152	157					1																	248685052		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685052C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.105C>T	1.37:g.248685052C>T							p.Y35Y	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	105	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	35					B2RP33	Silent	SNP	ENST00000343414.4	37	c.105C>T	CCDS31119.1																																																																																				0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		T	248685052	C	T	248685052	2	4	89	1	0	0	0	0	0	0	0	1	11000	547	19	1		1	OR2G6	1	248685052	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	1220932	248685052	565569	8	5919											
DPP10	57628	broad.mit.edu	37	chr2	116593818	116593818	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttgcacctatcacagActtgaaattgtatggtgagt	10	13	11	7	1	1	3	1	2	0	1	1	3	1	3	1	2	1	3	1	2	3	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:116593818A>T	ENST00000410059.1	+	22	2516	c.2036A>T	c.(2035-2037)gAc>gTc	p.D679V	DPP10_ENST00000310323.8_Missense_Mutation_p.D672V|DPP10_ENST00000393147.2_Missense_Mutation_p.D683V|DPP10_ENST00000409163.1_Missense_Mutation_p.D629V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	679						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTATCACAGACTTGAAATTG	0.368																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(2047-2049)gAc>gTc		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							88	85	86					2																	116593818		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593818A>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2036A>T	2.37:g.116593818A>T	ENSP00000386565:p.Asp679Val					DPP10_uc002tla.2_Missense_Mutation_p.D679V|DPP10_uc002tlb.2_Missense_Mutation_p.D629V|DPP10_uc002tlc.2_Missense_Mutation_p.D675V|DPP10_uc002tlf.2_Missense_Mutation_p.D672V	p.D683V	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			21	2069	+			679					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2048A>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046145	0.75846	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.81	5.81	0.92471	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.81272	-0.1008	10	0.87932	D	0	-31.1628	15.3479	0.74355	1.0:0.0:0.0:0.0	.	672;683;675;679	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	679;629;683;672	ENSP00000386565:D679V;ENSP00000387038:D629V;ENSP00000376855:D683V;ENSP00000309066:D672V	ENSP00000309066:D672V	D	+	2	0	DPP10	116310288	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.479000	0.81095	2.210000	0.71456	0.533000	0.62120	GAC		0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		T	116593818	A	T	116593818	3	4	89	1	0	0	0	0	1	0	0	0	4727	275	10	5	2293	5	DPP10	2	116593818	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08		116593818	126605555	9	5920											
WDR33	55339	broad.mit.edu	37	chr2	128484320	128484320	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actaaccctttggttggatgCcagtctacacatttcacatc	10	13	6	12	0	2	0	1	0	1	0	3	1	2	1	2	2	3	1	2	2	2	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:128484320C>T	ENST00000322313.4	-	8	914	c.756G>A	c.(754-756)tgG>tgA	p.W252*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	252					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGTTGGATGCCAGTCTACAC	0.408																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(754-756)tgG>tgA		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							175	172	173					2																	128484320		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128484320C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.756G>A	2.37:g.128484320C>T	ENSP00000325377:p.Trp252*						p.W252*	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	7	955	-	Colorectal(110;0.1)		252					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.756G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675019	0.96764	.	.	ENSG00000136709	ENST00000322313;ENST00000436787	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1042	19.4285	0.94755	0.0:1.0:0.0:0.0	.	.	.	.	X	252;174	.	ENSP00000325377:W252X	W	-	3	0	WDR33	128200790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.590000	0.87494	0.591000	0.81541	TGG		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		T	128484320	C	T	128484320	4	4	89	1	0	0	0	0	0	1	0	0	17284	740	26	3	3314	3	WDR33	2	128484320	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	11890502	128484320	114715053	10	5921											
HOXD10	3236	broad.mit.edu	37	chr2	176981726	176981726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgtggactgctcccGtctctggccaaaagagaagt	11	8	10	12	1	1	1	0	0	1	1	3	3	2	2	3	2	2	1	3	2	4	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:176981726G>A	ENST00000249501.4	+	1	420	c.165G>A	c.(163-165)ccG>ccA	p.P55P	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	55					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P55P(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGCTCCCGTCTCTGGCCA	0.488																																						uc002ukj.3																			2	Substitution - coding silent(2)	p.P55P(4)|p.P55T(1)	large_intestine(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(163-165)ccG>ccA		Homo sapiens homeobox D10 (HOXD10), mRNA.							109	109	109					2																	176981726		2203	4300	6503	SO:0001819	synonymous_variant	3236					nucleus	sequence-specific DNA binding	g.chr2:176981726G>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.165G>A	2.37:g.176981726G>A							p.P55P	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	0	235	+			55					Q6NT10	Silent	SNP	ENST00000249501.4	37	c.165G>A	CCDS2266.1																																																																																				0.488	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			A	176981726	G	A	176981726	2	1	89	1	0	0	0	0	0	0	0	1	7319	1132	40	1		1	HOXD10	2	176981726	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	48497406	176981726	66217647	11	5922											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841462	208841462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtagtcacagattggcGtttgttcttcctgagttcat	6	16	11	8	1	3	2	2	1	1	1	4	2	4	2	1	2	0	5	1	2	1	6	rs200329503		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:208841462G>A	ENST00000427836.2	-	3	1948	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R487C|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.R487C	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	487					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGATTGGCGTTTGTTCTTC	0.478													G|||	1	0.000199681	0	0	5008	,	,		20469	0		0	False		,,,				2504	0.001					uc002vcl.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1459-1461)Cgc>Tgc		Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.							98	97	97					2																	208841462		1998	4187	6185	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208841462G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1459C>T	2.37:g.208841462G>A	ENSP00000417003:p.Arg487Cys					PLEKHM3_uc002vcm.2_Missense_Mutation_p.R487C	p.R487C	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	1949	-			487					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1459C>T	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.228534|4.228534	0.79576|0.79576	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	D;D;D|.	0.86097|.	-2.02;-2.03;-2.07|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65133|0.65133	0.2662|0.2662	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|T	0.58994|0.58994	-0.7537|-0.7537	10|5	0.87932|.	D|.	0|.	.|.	19.8024|19.8024	0.96513|0.96513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	487;487|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	C|M	487|238	ENSP00000417003:R487C;ENSP00000373899:R487C;ENSP00000400150:R487C|.	ENSP00000373899:R487C|.	R|T	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208549707|208549707	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.782000|0.782000	0.44232|0.44232	9.174000|9.174000	0.94824|0.94824	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		A	208841462	G	A	208841462	3	1	89	1	0	0	0	0	1	0	0	0	12082	1145	40	1	850	1	PLEKHM3	2	208841462	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	31859736	208841462	34357911	12	5923											
CCDC108	255101	broad.mit.edu	37	chr2	219874081	219874081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcctaccttgcataccagGtctgcactgtagaagctggc	8	11	10	12	0	1	1	0	0	1	1	2	1	2	1	3	2	5	5	3	2	4	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:219874081G>C	ENST00000341552.5	-	28	4637	c.4554C>G	c.(4552-4554)gaC>gaG	p.D1518E	CCDC108_ENST00000453220.1_Missense_Mutation_p.D1518E|CCDC108_ENST00000441968.1_Missense_Mutation_p.D1518E|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1518						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCATACCAGGTCTGCACTGT	0.587																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4552-4554)gaC>gaG		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.							63	60	61					2																	219874081		2200	4293	6493	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219874081G>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4554C>G	2.37:g.219874081G>C	ENSP00000340776:p.Asp1518Glu						p.D1518E	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	27	4638	-		Renal(207;0.0915)	1518					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4554C>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974130	0.18736	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05382	3.45;3.45;3.45	5.33	2.42	0.29668	.	0.151725	0.30584	N	0.009303	T	0.09468	0.0233	M	0.74258	2.255	0.58432	D	0.999999	P	0.35745	0.518	B	0.38020	0.263	T	0.05273	-1.0895	10	0.51188	T	0.08	-17.2367	6.5715	0.22541	0.16:0.3404:0.4996:0.0	.	1518	Q6ZU64	CC108_HUMAN	E	1518	ENSP00000340776:D1518E;ENSP00000413377:D1518E;ENSP00000409117:D1518E	ENSP00000340776:D1518E	D	-	3	2	CCDC108	219582325	1.000000	0.71417	0.428000	0.26697	0.115000	0.19883	1.386000	0.34419	0.181000	0.19994	0.555000	0.69702	GAC		0.587	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		C	219874081	G	C	219874081	3	2	89	1	0	0	0	0	1	0	0	0	2743	1252	44	5	1255	5	CCDC108	2	219874081	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	11032619	219874081	23325292	13	5924											
RBM44	375316	broad.mit.edu	37	chr2	238738022	238738022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgggaatagaattagttcGaataatttagagaaaagcac	19	10	9	3	1	0	2	0	0	0	2	1	5	0	3	0	1	1	2	0	1	10	6	rs376575329		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:238738022G>A	ENST00000409864.1	+	13	3020	c.2766G>A	c.(2764-2766)tcG>tcA	p.S922S	RBM44_ENST00000316997.4_Silent_p.S922S			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	921						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GAATTAGTTCGAATAATTTAG	0.388																																						uc002vxi.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2764-2766)tcG>tcA		Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.		G		0,3646		0,0,1823	96	94	94		2766	-2.3	0	2		94	2,8158		0,2,4078	no	coding-synonymous	RBM44	NM_001080504.2		0,2,5901	AA,AG,GG		0.0245,0.0,0.0169		922/1053	238738022	2,11804	1823	4080	5903	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238738022G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2766G>A	2.37:g.238738022G>A							p.S922S	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	12	2898	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	921					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2766G>A	CCDS46554.1																																																																																				0.388	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		A	238738022	G	A	238738022	2	1	89	1	0	0	0	0	0	0	0	1	13138	1045	37	2		2	RBM44	2	238738022	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	18863941	238738022	4461351	14	5925											
CAND2	23066	broad.mit.edu	37	chr3	12858462	12858462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacactggcagccctggaCgccctggcccagagccaggg	7	3	14	17	1	0	1	0	0	0	1	0	2	0	2	5	4	2	1	5	4	0	0	rs377443431		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:12858462C>T	ENST00000456430.2	+	10	2072	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_ENST00000295989.5_Silent_p.D584D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	677					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			2	Substitution - coding silent(2)	p.D584D(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2029-2031)gaC>gaT		Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.		C	,	2,4054		0,2,2026	24	26	25		2031,1752	-9.9	0.2	3		25	0,8374		0,0,4187	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,2,6213	TT,TC,CC		0.0,0.0493,0.0161	,	677/1237,584/1120	12858462	2,12428	2028	4187	6215	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858462C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2031C>T	3.37:g.12858462C>T						CAND2_uc003bxj.2_Silent_p.D584D	p.D677D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			9	2080	+			677					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.2031C>T	CCDS54554.1																																																																																				0.662	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		T	12858462	C	T	12858462	2	4	89	1	0	0	0	0	0	0	0	1	2616	535	19	1		1	CAND2	3	12858462	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08		12858462	185163968	15	5926											
ZIC4	84107	broad.mit.edu	37	chr3	147113783	147113783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggctttgaagggctttcCctggcgcggacactcctccc	4	12	11	14	2	0	1	0	1	0	0	3	2	3	2	3	4	0	2	3	4	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:147113783C>G	ENST00000383075.3	-	3	1056	c.544G>C	c.(544-546)Gga>Cga	p.G182R	ZIC4_ENST00000484399.1_Missense_Mutation_p.G182R|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.G182R|ZIC4_ENST00000525172.2_Missense_Mutation_p.G232R|ZIC4_ENST00000425731.3_Missense_Mutation_p.G220R	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	182						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGGCTTTCCCTGGCGCGGA	0.597																																						uc011bno.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(694-696)Gga>Cga		Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.							118	129	125					3																	147113783		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113783C>G	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.544G>C	3.37:g.147113783C>G	ENSP00000372553:p.Gly182Arg					ZIC4_uc003ewc.2_Missense_Mutation_p.G112R|ZIC4_uc021xff.1_Missense_Mutation_p.G220R|ZIC4_uc003ewd.2_Missense_Mutation_p.G182R|ZIC4_uc021xfg.1_Intron	p.G232R	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN			2	880	-			182					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.694G>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911009	0.92178	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000256	D	0.96116	0.8734	M	0.62723	1.935	0.80722	D	1	P;D	0.76494	0.946;0.999	P;D	0.76071	0.593;0.987	D	0.96326	0.9240	10	0.62326	D	0.03	.	18.7355	0.91753	0.0:1.0:0.0:0.0	.	232;182	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	R	182;220;232;182;182;182	ENSP00000372553:G182R;ENSP00000397695:G220R;ENSP00000435509:G232R;ENSP00000417855:G182R;ENSP00000420775:G182R;ENSP00000420627:G182R	ENSP00000372553:G182R	G	-	1	0	ZIC4	148596473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.425000	0.82216	0.511000	0.50034	GGA		0.597	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			G	147113783	C	G	147113783	3	3	89	1	0	0	0	0	1	0	0	0	17678	632	22	5	472	5	ZIC4	3	147113783	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	134255321	147113783	50908647	16	5927											
MECOM	2122	broad.mit.edu	37	chr3	168834185	168834185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccggaaggaaacagaccaGggaagctaaaagaaaatcca	20	2	11	8	1	0	2	0	0	0	2	1	5	1	5	3	3	3	1	3	3	7	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:168834185G>A	ENST00000464456.1	-	7	2111	c.911C>T	c.(910-912)cCt>cTt	p.P304L	MECOM_ENST00000494292.1_Missense_Mutation_p.P492L|MECOM_ENST00000468789.1_Missense_Mutation_p.P304L|MECOM_ENST00000392736.3_Missense_Mutation_p.P304L|MECOM_ENST00000433243.2_Missense_Mutation_p.P305L|MECOM_ENST00000264674.3_Missense_Mutation_p.P369L|MECOM_ENST00000460814.1_Missense_Mutation_p.P304L|MECOM_ENST00000472280.1_Missense_Mutation_p.P305L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAACAGACCAGGGAAGCTAAA	0.473																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1474-1476)cCt>cTt		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							311	276	288					3																	168834185		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834185G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.911C>T	3.37:g.168834185G>A	ENSP00000419770:p.Pro304Leu					MECOM_uc010hwk.1_Missense_Mutation_p.P327L|MECOM_uc003ffj.3_Missense_Mutation_p.P369L|MECOM_uc003ffi.3_Missense_Mutation_p.P304L|MECOM_uc011bpi.1_Missense_Mutation_p.P305L|MECOM_uc003ffn.3_Missense_Mutation_p.P304L|MECOM_uc003ffk.2_Missense_Mutation_p.P304L|MECOM_uc003ffl.2_Missense_Mutation_p.P464L|MECOM_uc011bpk.1_Missense_Mutation_p.P304L|MECOM_uc010hwn.2_Missense_Mutation_p.P492L	p.P492L	NM_004991	NP_004982	Q13465	MDS1_HUMAN			7	1878	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1475C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771825	0.69992	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.09723	3.02;3.06;2.95;3.15;2.97;3.06;3.01;3.15	5.93	5.93	0.95920	.	0.348800	0.28476	N	0.015208	T	0.33498	0.0865	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.997	T	0.00512	-1.1696	10	0.87932	D	0	-11.4591	20.3368	0.98748	0.0:0.0:1.0:0.0	.	492;305;492;369;304	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	369;304;304;305;492;304;304;305	ENSP00000264674:P369L;ENSP00000376493:P304L;ENSP00000419770:P304L;ENSP00000420048:P305L;ENSP00000417899:P492L;ENSP00000419995:P304L;ENSP00000420466:P304L;ENSP00000394302:P305L	ENSP00000264674:P369L	P	-	2	0	MECOM	170316879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	CCT		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		A	168834185	G	A	168834185	3	1	89	1	0	0	0	0	1	0	0	0	9422	1000	35	3	2284	3	MECOM	3	168834185	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	21720402	168834185	29188245	17	5928											
NAALADL2	254827	broad.mit.edu	37	chr3	174951839	174951839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaattactctgtgctgcttGatctgccaggcccttctccc	6	14	7	14	0	3	1	0	1	3	0	4	1	3	1	3	1	4	2	3	1	3	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:174951839G>A	ENST00000454872.1	+	3	792	c.664G>A	c.(664-666)Gat>Aat	p.D222N	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	222						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGTGCTGCTTGATCTGCCAGG	0.443																																						uc003fit.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(664-666)Gat>Aat		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.							107	104	105					3																	174951839		1973	4155	6128	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951839G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.664G>A	3.37:g.174951839G>A	ENSP00000404705:p.Asp222Asn					NAALADL2_uc003fiu.1_Missense_Mutation_p.D215N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D44N	p.D222N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	751	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	222					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.664G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	5.460	0.269932	0.10349	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.38077	1.16	5.72	2.08	0.27032	.	1.165910	0.06219	N	0.686412	T	0.18215	0.0437	N	0.03324	-0.35	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12837	0.008;0.0	T	0.29701	-1.0003	10	0.13853	T	0.58	-3.9209	10.4096	0.44285	0.4657:0.0:0.5343:0.0	.	205;222	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	N	222;29	ENSP00000404705:D222N	ENSP00000314951:D29N	D	+	1	0	NAALADL2	176434533	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.704000	0.25661	-0.087000	0.12528	-1.079000	0.02226	GAT		0.443	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		A	174951839	G	A	174951839	3	1	89	1	0	0	0	0	1	0	0	0	10130	1290	45	3	674	3	NAALADL2	3	174951839	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	6117654	174951839	23070591	18	5929											
GNRHR	2798	broad.mit.edu	37	chr4	68606377	68606377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgaagtggcaaatgcaaCcgtcatttttagagtcttca	14	12	8	7	1	3	2	2	1	1	1	3	2	3	2	1	1	2	2	1	1	5	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr4:68606377C>T	ENST00000226413.4	-	3	832	c.808G>A	c.(808-810)Gtt>Att	p.V270I	UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.G227D|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	270					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCAAATGCAACCGTCATTTTT	0.408																																						uc003hdn.3																			0		p.T269T(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(808-810)Gtt>Att		Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						211	217	215					4																	68606377		2203	4300	6503	SO:0001583	missense	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68606377C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.808G>A	4.37:g.68606377C>T	ENSP00000226413:p.Val270Ile					LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.G227D|BC045560_uc003hdo.1_5'Flank	p.V270I	NM_000406	NP_000397	P30968	GNRHR_HUMAN			2	2559	-			270					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.808G>A	CCDS3517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.86|12.86	2.065628|2.065628	0.36470|0.36470	.|.	.|.	ENSG00000109163|ENSG00000109163	ENST00000420975|ENST00000226413	D|T	0.81821|0.37235	-1.54|1.21	5.43|5.43	5.43|5.43	0.79202|0.79202	.|GPCR, rhodopsin-like superfamily (1);	.|0.133510	.|0.34025	.|N	.|0.004336	T|T	0.14960|0.14960	0.0361|0.0361	.|.	.|.	.|.	0.28532|0.28532	N|N	0.912522|0.912522	B|B	0.26258|0.34329	0.145|0.449	B|B	0.24541|0.30495	0.054|0.116	T|T	0.17410|0.17410	-1.0370|-1.0370	8|9	0.36615|0.05525	T|T	0.2|0.97	-17.0486|-17.0486	10.5382|10.5382	0.45018|0.45018	0.0:0.9118:0.0:0.0882|0.0:0.9118:0.0:0.0882	.|.	227|270	P30968-2|P30968	.|GNRHR_HUMAN	D|I	227|270	ENSP00000397561:G227D|ENSP00000226413:V270I	ENSP00000397561:G227D|ENSP00000226413:V270I	G|V	-|-	2|1	0|0	GNRHR|GNRHR	68288972|68288972	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.400000|0.400000	0.30750|0.30750	2.290000|2.290000	0.43531|0.43531	2.718000|2.718000	0.92993|0.92993	0.585000|0.585000	0.79938|0.79938	GGT|GTT		0.408	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			T	68606377	C	T	68606377	3	4	89	1	0	0	0	0	1	0	0	0	6549	507	18	3	182	3	GNRHR	4	68606377	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		68606377	122547899	19	5930											
PITX2	5308	broad.mit.edu	37	chr4	111539460	111539460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtaaggacaggcaggcgTcggcaccgcggaattcagcg	9	4	16	12	7	1	0	1	0	0	0	2	2	1	2	1	5	1	3	1	5	2	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr4:111539460T>C	ENST00000354925.2	-	7	2480	c.775A>G	c.(775-777)Acg>Gcg	p.T259A	PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Missense_Mutation_p.T213A|PITX2_ENST00000394598.2_Missense_Mutation_p.T259A|PITX2_ENST00000306732.3_Missense_Mutation_p.T266A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	259					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CAGGCAGGCGTCGGCACCGCG	0.592																																						uc003iaf.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(775-777)Acg>Gcg		Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.							46	49	48					4																	111539460		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539460T>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.775A>G	4.37:g.111539460T>C	ENSP00000347004:p.Thr259Ala					PITX2_uc003iac.3_Missense_Mutation_p.T266A|PITX2_uc003iad.3_Missense_Mutation_p.T259A|PITX2_uc021xqr.1_Missense_Mutation_p.T259A|PITX2_uc003iae.3_Missense_Mutation_p.T213A|PITX2_uc021xqs.1_Missense_Mutation_p.T213A	p.T259A	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	6	2598	-		Hepatocellular(203;0.217)	259					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.775A>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855518	0.32791	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.92149	-2.63;-2.74;-2.9;-2.74;-2.98	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	N	0.02539	-0.55	0.80722	D	1	B;D;B;B	0.56035	0.0;0.974;0.0;0.001	B;D;B;B	0.67725	0.002;0.953;0.003;0.009	D	0.85345	0.1098	10	0.07990	T	0.79	.	15.9332	0.79683	0.0:0.0:0.0:1.0	.	213;213;259;266	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	A	266;259;213;259;259	ENSP00000304169:T266A;ENSP00000378097:T259A;ENSP00000347192:T213A;ENSP00000347004:T259A;ENSP00000421454:T259A	ENSP00000304169:T266A	T	-	1	0	PITX2	111758909	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	6.088000	0.71371	2.172000	0.68678	0.533000	0.62120	ACG		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			C	111539460	T	C	111539460	3	2	89	1	0	0	0	0	1	0	0	0	11955	1667	58	4	182	4	PITX2	4	111539460	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	42933083	111539460	79614816	20	5931											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccgggagttgccaactcGaaaactgcgggttagtgcag	9	9	14	9	3	0	0	0	0	0	0	2	2	1	1	2	2	5	3	2	2	4	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:140730012G>A	ENST00000523390.1	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAACTCGAAAACTGCGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljo.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(184-186)cGa>cAa		Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.							77	76	77					5																	140730012		1884	4101	5985	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730012G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.185G>A	5.37:g.140730012G>A	ENSP00000429273:p.Arg62Gln		OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.R62Q	p.R62Q	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	185	+			62			Cadherin 1.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.185G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.904581	0.92035	.	.	ENSG00000254221	ENST00000523390	T	0.40225	1.04	5.52	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73651	0.3614	H	0.98256	4.185	0.27532	N	0.951053	D;D	0.67145	0.983;0.996	B;P	0.57720	0.299;0.826	T	0.75210	-0.3398	9	0.72032	D	0.01	.	14.2571	0.66060	0.0727:0.0:0.9273:0.0	.	62;62	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	Q	62	ENSP00000429273:R62Q	ENSP00000429273:R62Q	R	+	2	0	PCDHGB1	140710196	0.896000	0.30565	0.997000	0.53966	0.994000	0.84299	3.584000	0.53936	1.462000	0.47948	0.563000	0.77884	CGA		0.522	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		A	140730012	G	A	140730012	3	1	89	1	0	0	0	0	1	0	0	0	11562	1058	37	2	187	2	PCDHGB1	5	140730012	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		140730012	40185248	21	5932											
MFAP3	4238	broad.mit.edu	37	chr5	153432941	153432941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaactgtcgagcctttgttGaggagatgtttgaggctgtg	8	14	14	5	1	0	3	0	2	0	1	1	5	0	3	1	2	2	3	1	2	2	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:153432941G>A	ENST00000436816.1	+	3	976	c.757G>A	c.(757-759)Gag>Aag	p.E253K	MFAP3_ENST00000322602.5_Missense_Mutation_p.E253K|MFAP3_ENST00000439768.2_Missense_Mutation_p.E107K	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	253					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCCTTTGTTGAGGAGATGTT	0.453																																						uc010jib.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(757-759)Gag>Aag		Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.							111	106	107					5																	153432941		2203	4300	6503	SO:0001583	missense	4238					integral to membrane|plasma membrane		g.chr5:153432941G>A		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.757G>A	5.37:g.153432941G>A	ENSP00000409933:p.Glu253Lys					MFAP3_uc011ddb.1_Missense_Mutation_p.E107K|MFAP3_uc003lvf.2_Missense_Mutation_p.E253K|MFAP3_uc021ygf.1_Missense_Mutation_p.E107K	p.E253K	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	2	976	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	253					B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	37	c.757G>A	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759713	0.89932	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.32272	1.46;1.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.64404	1.975	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.46119	-0.9214	9	.	.	.	-19.0111	20.2245	0.98337	0.0:0.0:1.0:0.0	.	253	P55082	MFAP3_HUMAN	K	107;253;253	ENSP00000409933:E253K;ENSP00000322956:E253K	.	E	+	1	0	MFAP3	153413134	1.000000	0.71417	0.993000	0.49108	0.911000	0.54048	9.585000	0.98223	2.861000	0.98227	0.650000	0.86243	GAG		0.453	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		A	153432941	G	A	153432941	3	1	89	1	0	0	0	0	1	0	0	0	9515	1291	45	3	763	3	MFAP3	5	153432941	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	12702929	153432941	27482319	22	5933											
EBF1	1879	broad.mit.edu	37	chr5	158140123	158140123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacactgtacagggcctcGgcaatgtcggccgctctctt	7	9	12	13	3	1	0	0	0	1	0	4	1	1	1	2	4	2	3	2	4	3	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:158140123G>A	ENST00000313708.6	-	13	1506	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	EBF1_ENST00000517373.1_Silent_p.A400A|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.A377A	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	408					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGGGCCTCGGCAATGTCGG	0.527			T	HMGA2	lipoma																																	uc010jip.3				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1222-1224)gcC>gcT		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							92	76	81					5																	158140123		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140123G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1224C>T	5.37:g.158140123G>A						EBF1_uc011ddw.2_Silent_p.A276A|EBF1_uc011ddx.2_Silent_p.A409A|EBF1_uc003lxl.4_Silent_p.A377A	p.A408A	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1526	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	408					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1224C>T	CCDS4343.1																																																																																				0.527	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		A	158140123	G	A	158140123	2	1	89	1	0	0	0	0	0	0	0	1	4880	1103	39	2		2	EBF1	5	158140123	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	4707182	158140123	22775137	23	5934											
BTNL3	10917	broad.mit.edu	37	chr5	180432547	180432547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatgtgggagtgtgtcGggatgacgtagacaggggga	8	9	21	3	2	0	2	0	1	0	1	1	5	0	5	0	5	0	2	0	5	2	2	rs199970076		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:180432547G>A	ENST00000342868.6	+	8	1260	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGAGTGTGTCGGGATGACGTA	0.478																																						uc003mmr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1075-1077)cGg>cAg		Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.							190	207	201					5																	180432547		2192	4295	6487	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432547G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1076G>A	5.37:g.180432547G>A	ENSP00000341787:p.Arg359Gln					BTNL3_uc010jlp.3_Missense_Mutation_p.R144Q	p.R359Q	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		7	1260	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	359			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1076G>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	8.000	0.755294	0.15846	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.70399	-0.48	3.0	-4.32	0.03688	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.58836	0.2150	L	0.46614	1.455	0.09310	N	1	B;B	0.29115	0.233;0.071	B;B	0.17722	0.019;0.008	T	0.27054	-1.0085	9	0.19147	T	0.46	.	16.2826	0.82703	0.134:0.0:0.866:0.0	.	325;359	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	Q	359;325	ENSP00000341787:R359Q	ENSP00000341787:R359Q	R	+	2	0	BTNL3	180365153	0.006000	0.16342	0.000000	0.03702	0.013000	0.08279	0.258000	0.18387	-1.943000	0.01039	-1.076000	0.02234	CGG		0.478	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		A	180432547	G	A	180432547	3	1	89	1	0	0	0	0	1	0	0	0	1566	1116	39	2	1106	2	BTNL3	5	180432547	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	22292424	180432547	482713	24	5935											
ROS1	6098	broad.mit.edu	37	chr6	117679033	117679033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgaatcttcacctctctgGgatatttcaccttgtgttca	7	17	7	10	0	5	1	3	1	2	0	6	2	5	2	2	1	0	1	2	1	2	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr6:117679033G>T	ENST00000368508.3	-	24	3986	c.3788C>A	c.(3787-3789)cCc>cAc	p.P1263H	ROS1_ENST00000368507.3_Missense_Mutation_p.P1258H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1263					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1263F(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACCTCTCTGGGATATTTCAC	0.318			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	1	Substitution - Missense(1)	p.P1263F(2)|p.P1263P(1)	skin(1)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3787-3789)cCc>cAc		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							94	91	92					6																	117679033		2202	4299	6501	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117679033G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3788C>A	6.37:g.117679033G>T	ENSP00000357494:p.Pro1263His					ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	p.P1263H	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	23	3987	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1263					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3788C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468645	0.26335	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91124	-2.79;-2.79	5.12	3.31	0.37934	.	0.111846	0.38005	N	0.001849	T	0.74283	0.3696	L	0.27053	0.805	0.26397	N	0.976486	P	0.43412	0.806	B	0.41946	0.371	T	0.69331	-0.5173	10	0.66056	D	0.02	.	6.2462	0.20818	0.279:0.0:0.721:0.0	.	1263	P08922	ROS1_HUMAN	H	1263;1258	ENSP00000357494:P1263H;ENSP00000357493:P1258H	ENSP00000357493:P1258H	P	-	2	0	ROS1	117785726	0.907000	0.30839	0.532000	0.27989	0.232000	0.25224	2.170000	0.42443	1.296000	0.44742	-0.143000	0.13931	CCC		0.318	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117679033	G	T	117679033	3	4	89	1	0	0	0	0	1	0	0	0	13531	1232	43	5	3335	5	ROS1	6	117679033	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		117679033	53436034	25	5936											
CRHR2	1395	broad.mit.edu	37	chr7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcctcacggctgagCgcacctgtggggaaggcaga	8	7	13	13	2	2	2	1	1	1	1	3	3	3	3	3	4	1	3	3	4	1	1	rs199502493	byFrequency	TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:30693212C>T	ENST00000471646.1	-	12	1517	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.R367H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													C|||	3	0.000599042	0	0.0014	5008	,	,		16499	0.002		0	False		,,,				2504	0					uc003tbn.3																			1	Substitution - Missense(1)	p.R367H(2)	stomach(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1099-1101)cGc>cAc		Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.							93	81	85					7																	30693212		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693212C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1100G>A	7.37:g.30693212C>T	ENSP00000418722:p.Arg367His					CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.R366H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R203H|CRHR2_uc003tbo.3_Missense_Mutation_p.R353H|CRHR2_uc003tbp.3_Missense_Mutation_p.R394H	p.R367H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			11	1345	-			367					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1100G>A	CCDS5429.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	19.07	3.756228	0.69648	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.58358	0.34;0.34;0.34	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	P;D;D;P	0.72982	0.87;0.979;0.969;0.87	T	0.78994	-0.1984	10	0.87932	D	0	.	15.1361	0.72566	0.0:1.0:0.0:0.0	.	366;394;353;367	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	H	367;394;353	ENSP00000418722:R367H;ENSP00000340943:R394H;ENSP00000344304:R353H	ENSP00000344304:R353H	R	-	2	0	CRHR2	30659737	1.000000	0.71417	0.973000	0.42090	0.013000	0.08279	7.753000	0.85153	2.236000	0.73375	0.563000	0.77884	CGC		0.642	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			T	30693212	C	T	30693212	3	4	89	1	0	0	0	0	1	0	0	0	3872	768	27	1	139	1	CRHR2	7	30693212	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		30693212	128445451	26	5937											
DDX56	54606	broad.mit.edu	37	chr7	44611162	44611162	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttccaagaacaggcgtagCcggtaactccgttctagagt	10	10	11	10	3	1	2	0	0	1	2	3	2	3	2	3	2	3	4	3	2	5	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:44611162C>A	ENST00000258772.5	-	6	925	c.819G>T	c.(817-819)cgG>cgT	p.R273R	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.R273R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	273	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACAGGCGTAGCCGGTAACTCC	0.522																																						uc003tlg.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(817-819)cgG>cgT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.							85	77	80					7																	44611162		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611162C>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.819G>T	7.37:g.44611162C>A						DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Silent_p.R273R|DDX56_uc010kyh.1_Non-coding_Transcript	p.R273R	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			5	1462	-			273			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.819G>T	CCDS5492.1																																																																																				0.522	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		A	44611162	C	A	44611162	2	1	89	1	0	0	0	0	0	0	0	1	4374	726	26	5		5	DDX56	7	44611162	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	13917950	44611162	114527501	27	5938											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212399	74212399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcagctcgtgaagcttCtcgtcacgcattctttccat	6	17	6	12	3	4	1	2	1	2	0	7	1	5	1	1	0	2	3	1	0	1	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:74212399C>T	ENST00000405086.2	-	16	1641	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	GTF2IRD2_ENST00000451013.2_Silent_p.E31E	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						cgtgaagcttctcgtcacgca	0.443																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1450-1452)gaG>gaA		Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.							184	162	170					7																	74212399		2203	4300	6503	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212399C>T	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1452G>A	7.37:g.74212399C>T						GTF2IRD2_uc010lbt.1_Silent_p.E31E	p.E484E	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN			15	1636	-			484					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1452G>A	CCDS5576.1																																																																																				0.443	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		T	74212399	C	T	74212399	2	4	89	1	0	0	0	0	0	0	0	1	6869	912	32	3		3	GTF2IRD2	7	74212399	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	29601237	74212399	84926264	28	5939											
CCL24	6369	broad.mit.edu	37	chr7	75442664	75442664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcctgctggacagctGgtagctgaccactcggttct	5	12	12	12	1	1	1	0	1	1	0	3	2	2	2	2	3	4	6	2	3	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:75442664G>C	ENST00000416943.1	-	3	244	c.151C>G	c.(151-153)Cag>Gag	p.Q51E	CCL24_ENST00000222902.2_Missense_Mutation_p.Q51E	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	51					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CTGGACAGCTGGTAGCTGACC	0.562																																						uc011kga.2																			0				endometrium(1)|lung(2)	3						c.(151-153)Cag>Gag		Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.							70	65	67					7																	75442664		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75442664G>C	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.151C>G	7.37:g.75442664G>C	ENSP00000400533:p.Gln51Glu						p.Q51E	NM_002991	NP_002982	O00175	CCL24_HUMAN			1	210	-			51					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.151C>G	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855089	0.17106	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.04015	3.73;3.73	4.14	2.16	0.27623	Chemokine interleukin-8-like domain (3);	0.150400	0.31415	N	0.007695	T	0.07188	0.0182	L	0.31207	0.915	0.28634	N	0.907524	D	0.59767	0.986	P	0.58970	0.849	T	0.12426	-1.0548	10	0.40728	T	0.16	.	5.1269	0.14890	0.1165:0.2136:0.6698:0.0	.	51	O00175	CCL24_HUMAN	E	51	ENSP00000222902:Q51E;ENSP00000400533:Q51E	ENSP00000222902:Q51E	Q	-	1	0	CCL24	75280600	0.994000	0.37717	0.944000	0.38274	0.254000	0.26022	1.502000	0.35704	1.089000	0.41292	0.655000	0.94253	CAG		0.562	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		C	75442664	G	C	75442664	3	2	89	1	0	0	0	0	1	0	0	0	2896	1357	47	5	214	5	CCL24	7	75442664	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	1230265	75442664	83695999	29	5940											
CDHR3	222256	broad.mit.edu	37	chr7	105660961	105660961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgaccttgattccagccCcagatctttccgttattcca	8	13	5	15	2	1	2	0	1	1	1	4	3	4	2	7	0	2	1	7	0	2	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:105660961C>T	ENST00000317716.9	+	13	1876	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.P599L|CDHR3_ENST00000478080.1_Missense_Mutation_p.P511L|CDHR3_ENST00000343407.5_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GATTCCAGCCCCAGATCTTTC	0.488																																						uc003vdl.4																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1795-1797)cCc>cTc		Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.							140	124	129					7																	105660961		1891	4114	6005	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660961C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1796C>T	7.37:g.105660961C>T	ENSP00000325954:p.Pro599Leu					CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.P586L|CDHR3_uc011klt.2_Missense_Mutation_p.P511L|CDHR3_uc003vdn.3_Intron	p.P599L	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			12	1904	+			599			Cadherin 6.		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1796C>T	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.394639|4.394639	0.83011|0.83011	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080|ENST00000468477	T;T;T|T	0.58358|0.58940	0.34;0.34;1.27|0.3	5.55|5.55	5.55|5.55	0.83447|0.83447	Cadherin (2);Cadherin-like (1);|.	0.335463|0.335463	0.30028|0.30028	N|N	0.010592|0.010592	T|T	0.70482|0.70482	0.3229|0.3229	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.72075|.	0.922;0.976|.	T|T	0.66224|0.66224	-0.5977|-0.5977	10|8	0.12103|0.28530	T|T	0.63|0.3	-13.8547|-13.8547	17.6826|17.6826	0.88248|0.88248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	586;599|.	B3KYA0;Q6ZTQ4|.	.;CDHR3_HUMAN|.	L|S	599;599;511|68	ENSP00000439766:P599L;ENSP00000325954:P599L;ENSP00000417771:P511L|ENSP00000418958:P68S	ENSP00000325954:P599L|ENSP00000418958:P68S	P|P	+|+	2|1	0|0	CDHR3|CDHR3	105448197|105448197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	5.359000|5.359000	0.66074|0.66074	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.488	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		T	105660961	C	T	105660961	3	4	89	1	0	0	0	0	1	0	0	0	3120	623	22	3	1846	3	CDHR3	7	105660961	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	30218297	105660961	53477702	30	5941											
SND1	27044	broad.mit.edu	37	chr7	127334947	127334948	+	Frame_Shift_Ins	INS	-	-	A																															ggaaggaagtctgtttcacgINSatagaaaacaagactcccca																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:127334947_127334948insA	ENST00000354725.3	+	3	488_489	c.294_295insA	c.(295-297)atafs	p.I99fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	99	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCTGTTTCACGATAGAAAACAA	0.465																																						uc003vmi.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(292-297)acgatafs		Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.																																				SO:0001589	frameshift_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127334947_127334948insA		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.295dupA	7.37:g.127334948_127334948dupA	ENSP00000346762:p.Ile99fs						p.T98fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			2	520_521	+			98			TNase-like 1.		Q13122|Q96AG0	Frame_Shift_Ins	INS	ENST00000354725.3	37	c.294_295insA	CCDS34747.1																																																																																				0.465	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		A	127334948	-	A	127334947	7	5	89	1	0	1	1	0	0	0	0	0	14844	1045	37	0	304	0	SND1	7	127334947	Frame_Shift_Ins	INS	-	TCGA-06-5412-01A-01D-1696-08	21673986	127334947	31803716	31	5942											
KEL	3792	broad.mit.edu	37	chr7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcctgtctcctccaCgcacttcatccatcgtgggc	6	10	9	16	3	2	0	1	0	1	0	6	1	4	0	4	1	2	1	4	1	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:142643377C>T	ENST00000355265.2	-	11	1705	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	411					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCTCCTCCACGCACTTCATC	0.567																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1231-1233)Gtg>Atg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							87	74	78					7																	142643377		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142643377C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1231G>A	7.37:g.142643377C>T	ENSP00000347409:p.Val411Met						p.V411M	NM_000420	NP_000411	P23276	KELL_HUMAN			10	1441	-	Melanoma(164;0.059)		411					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1231G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	9.334	1.061309	0.19987	.	.	ENSG00000197993	ENST00000355265	T	0.78003	-1.14	4.48	1.54	0.23209	Peptidase M13 (1);	0.762469	0.11301	N	0.578219	T	0.62085	0.2399	L	0.41824	1.3	0.27440	N	0.953734	P	0.44006	0.824	B	0.34536	0.185	T	0.57843	-0.7741	10	0.72032	D	0.01	-1.8374	4.0324	0.09714	0.1854:0.611:0.0:0.2036	.	411	P23276	KELL_HUMAN	M	411	ENSP00000347409:V411M	ENSP00000347409:V411M	V	-	1	0	KEL	142353499	0.016000	0.18221	0.915000	0.36163	0.177000	0.22998	-0.211000	0.09332	0.475000	0.27415	-0.355000	0.07637	GTG		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142643377	C	T	142643377	3	4	89	1	0	0	0	0	1	0	0	0	8142	536	19	1	1003	1	KEL	7	142643377	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	15308430	142643377	16495286	32	5943											
SOX7	83595	broad.mit.edu	37	chr8	10583649	10583649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggccagggagcccagggGgtggctacagtggagagggc	9	3	21	8	0	0	1	0	0	0	1	0	3	0	2	2	7	2	1	2	7	2	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:10583649G>A	ENST00000304501.1	-	2	844	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	SOX7_ENST00000554914.1_Missense_Mutation_p.P308S|SOX7_ENST00000553390.1_Missense_Mutation_p.P308S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	256					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GAGCCCAGGGGGTGGCTACAG	0.692																																						uc011kwz.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(922-924)Ccc>Tcc		Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.							22	30	27					8																	10583649		2196	4280	6476	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583649G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.766C>T	8.37:g.10583649G>A	ENSP00000301921:p.Pro256Ser					SOX7_uc003wtf.3_Missense_Mutation_p.P256S	p.P308S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	5	955	-			256			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.922C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329936	0.24167	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.75938	-0.98;-0.98;-0.98	5.05	-0.3	0.12804	.	0.242826	0.35235	N	0.003350	T	0.51415	0.1673	L	0.31526	0.94	0.26093	N	0.980923	P;B	0.45176	0.852;0.042	B;B	0.39217	0.294;0.103	T	0.50432	-0.8829	10	0.20519	T	0.43	.	3.4664	0.07552	0.2207:0.1163:0.5439:0.119	.	308;256	B4DKV0;Q9BT81	.;SOX7_HUMAN	S	256;308;308	ENSP00000301921:P256S;ENSP00000452017:P308S;ENSP00000451145:P308S	ENSP00000346908:P308S	P	-	1	0	SOX7;CTD-2135J3.4	10621059	0.994000	0.37717	0.923000	0.36655	0.616000	0.37450	0.967000	0.29344	-0.321000	0.08627	-1.598000	0.00824	CCC		0.692	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			A	10583649	G	A	10583649	3	1	89	1	0	0	0	0	1	0	0	0	14956	1232	43	3	404	3	SOX7	8	10583649	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		10583649	135780373	33	5944											
HGSNAT	138050	broad.mit.edu	37	chr8	43048945	43048945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaccccgagggcatcctgGgcaccatcaactccatcgtg	9	7	10	15	2	1	1	1	1	0	0	4	2	3	1	5	2	1	2	5	2	1	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:43048945G>C	ENST00000458501.2	+	14	1507	c.1507G>C	c.(1507-1509)Ggc>Cgc	p.G503R	HGSNAT_ENST00000521576.1_Missense_Mutation_p.G192R|HGSNAT_ENST00000379644.4_Missense_Mutation_p.G475R|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G207R			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	503					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGCATCCTGGGCACCATCAA	0.428																																						uc003xpx.4																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(1423-1425)Ggc>Cgc		Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.							153	154	153					8																	43048945		1924	4145	6069	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43048945G>C		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1507G>C	8.37:g.43048945G>C	ENSP00000389524:p.Gly503Arg						p.G475R	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		13	1471	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	503					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1423G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.153238|4.153238	0.78114|0.78114	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000524016|ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	.|D;D;D;D	.|0.90069	.|-2.61;-2.61;-2.61;-2.61	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.95661|0.95661	0.8589|0.8589	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	D|D	0.96569|0.96569	0.9421|0.9421	6|10	.|0.72032	.|D	.|0.01	-15.2171|-15.2171	16.0959|16.0959	0.81123|0.81123	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503	.|Q68CP4	.|HGNAT_HUMAN	A|R	176|503;475;192;207	.|ENSP00000389524:G503R;ENSP00000368965:G475R;ENSP00000429029:G192R;ENSP00000297798:G207R	.|ENSP00000297798:G207R	G|G	+|+	2|1	0|0	HGSNAT|HGSNAT	43168102|43168102	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.513000|0.513000	0.34164|0.34164	9.276000|9.276000	0.95745|0.95745	2.391000|2.391000	0.81399|0.81399	0.650000|0.650000	0.86243|0.86243	GGG|GGC		0.428	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		C	43048945	G	C	43048945	3	2	89	1	0	0	0	0	1	0	0	0	7088	1232	43	5	1477	5	HGSNAT	8	43048945	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	32465296	43048945	103315077	34	5945											
ENPP2	5168	broad.mit.edu	37	chr8	120628516	120628516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacttaccggttgacctcCccaccatctatgattaaatt	13	12	4	12	1	1	2	0	2	1	0	2	2	2	2	5	1	2	1	5	1	6	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:120628516C>T	ENST00000075322.6	-	8	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ENPP2_ENST00000522826.1_Missense_Mutation_p.G256R|ENPP2_ENST00000427067.2_Missense_Mutation_p.G252R|ENPP2_ENST00000259486.6_Missense_Mutation_p.G256R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	256					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTTGACCTCCCCACCATCTA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(766-768)Gga>Aga		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							151	133	139					8																	120628516		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120628516C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.766G>A	8.37:g.120628516C>T	ENSP00000075322:p.Gly256Arg					ENPP2_uc010mdd.2_Missense_Mutation_p.G256R|ENPP2_uc003yot.2_Missense_Mutation_p.G256R	p.G256R	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	852	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		256					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.766G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043946	0.75732	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.100154	0.64402	D	0.000002	D	0.84629	0.5514	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.989	T	0.83233	-0.0062	10	0.41790	T	0.15	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	256;256;256	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	R	256;252;256;256;238	ENSP00000259486:G256R;ENSP00000403315:G252R;ENSP00000428291:G256R;ENSP00000075322:G256R;ENSP00000428304:G238R	ENSP00000075322:G256R	G	-	1	0	ENPP2	120697697	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.818000	0.86416	2.605000	0.88082	0.563000	0.77884	GGA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120628516	C	T	120628516	3	4	89	1	0	0	0	0	1	0	0	0	5130	632	22	3	2136	3	ENPP2	8	120628516	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	77579571	120628516	25735506	35	5946											
HAS2	3037	broad.mit.edu	37	chr8	122626452	122626452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgacccaatagcatgcaTagagcaacgttccaacaatt	15	8	7	11	1	0	2	0	1	0	1	1	2	1	2	2	0	5	5	2	0	6	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:122626452T>C	ENST00000303924.4	-	4	2093	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	519					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATAGCATGCATAGAGCAACGT	0.418																																						uc003yph.2																		HAS2/PLAG1(10)	0		p.L518F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1555-1557)tAt>tGt		Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.							198	171	180					8																	122626452		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626452T>C	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1556A>G	8.37:g.122626452T>C	ENSP00000306991:p.Tyr519Cys						p.Y519C	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	2094	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		519					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1556A>G	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.358030	0.61403	.	.	ENSG00000170961	ENST00000303924	T	0.62498	0.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82458	-0.0447	10	0.87932	D	0	-16.8984	16.8222	0.85835	0.0:0.0:0.0:1.0	.	519	Q92819	HAS2_HUMAN	C	519	ENSP00000306991:Y519C	ENSP00000306991:Y519C	Y	-	2	0	HAS2	122695633	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.030000	0.88816	2.371000	0.80710	0.533000	0.62120	TAT		0.418	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		C	122626452	T	C	122626452	3	2	89	1	0	0	0	0	1	0	0	0	6962	1406	49	4	106	4	HAS2	8	122626452	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	1997936	122626452	23737570	36	5947											
FAM49B	51571	broad.mit.edu	37	chr8	130866513	130866513	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaaagcattaacttaccGgtacattgttaatcctcata	14	14	4	9	1	2	0	2	0	0	0	3	0	3	0	2	1	4	3	2	1	6	7	rs200940349		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:130866513G>A	ENST00000519824.2	-	7	788	c.515C>T	c.(514-516)cCg>cTg	p.P172L	FAM49B_ENST00000523509.1_Splice_Site_p.P172L|FAM49B_ENST00000522250.1_Splice_Site_p.P26L|FAM49B_ENST00000519540.1_Splice_Site_p.P172L|FAM49B_ENST00000517654.1_Splice_Site_p.P172L|FAM49B_ENST00000401979.2_Splice_Site_p.P172L|FAM49B_ENST00000518879.1_5'Flank|FAM49B_ENST00000522746.1_Splice_Site_p.P172L|FAM49B_ENST00000519110.1_Splice_Site_p.P172L|FAM49B_ENST00000522941.1_Splice_Site_p.P26L	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	172						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTAACTTACCGGTACATTGTT	0.348													G|||	1	0.000199681	0	0	5008	,	,		17561	0		0.001	False		,,,				2504	0					uc003yss.3																			0				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.e10+1		Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.							157	135	142					8																	130866513		2203	4300	6503	SO:0001630	splice_region_variant	51571							g.chr8:130866513G>A	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.516+1C>T	8.37:g.130866513G>A						FAM49B_uc003yst.3_Splice_Site_p.P172_splice|FAM49B_uc003ysu.3_Splice_Site_p.P172_splice|FAM49B_uc003ysw.3_Splice_Site_p.P172_splice|FAM49B_uc003ysx.3_Splice_Site_p.P172_splice|FAM49B_uc003ysy.1_Splice_Site_p.P172_splice	p.P172_splice	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		10	1065	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		172					Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	c.516_splice	CCDS6361.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	16.28|16.28	3.079106|3.079106	0.55753|0.55753	.|.	.|.	ENSG00000153310|ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941|ENST00000311292	T;T;T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69904|0.69904	0.3163|0.3163	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P|.	0.35612|.	0.512|.	B|.	0.33568|.	0.166|.	T|T	0.70521|0.70521	-0.4849|-0.4849	10|6	0.28530|0.66056	T|D	0.3|0.02	-13.5108|-13.5108	18.6274|18.6274	0.91346|0.91346	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	172|.	Q9NUQ9|.	FA49B_HUMAN|.	L|W	172;172;172;172;26;172;172;172;26|126	ENSP00000428117:P172L;ENSP00000429802:P172L;ENSP00000384880:P172L;ENSP00000429078:P172L;ENSP00000429978:P26L;ENSP00000429150:P172L;ENSP00000430674:P172L;ENSP00000429499:P172L;ENSP00000430433:P26L|.	ENSP00000384880:P172L|ENSP00000311651:R126W	P|R	-|-	2|1	0|2	FAM49B|FAM49B	130935695|130935695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	4.417000|4.417000	0.59822|0.59822	2.745000|2.745000	0.94114|0.94114	0.491000|0.491000	0.48974|0.48974	CCG|CGG		0.348	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623	Missense_Mutation	A	130866513	G	A	130866513	5	1	89	1	0	0	0	0	0	0	1	0	5576	1130	39	2	483	2	FAM49B	8	130866513	Splice_Site	SNP	G	TCGA-06-5412-01A-01D-1696-08	8240061	130866513	15497509	37	5948											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	2	3	23	13	6	0	1	0	1	0	0	0	2	0	1	4	7	2	0	4	7	0	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000341272.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						uc004blf.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.							22	24	23					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	p.R48_splice	NM_000177	NP_000168	P06396	GELS_HUMAN			1	205	+			48					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37	c.144_splice	CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	G	124062285	T	G	124062285	5	3	89	1	0	0	0	0	0	0	1	0	6825	1710	59	5	148	5	GSN	9	124062285	Splice_Site	SNP	T	TCGA-06-5412-01A-01D-1696-08		124062285	17151146	38	5949											
ABL1	25	broad.mit.edu	37	chr9	133760582	133760582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccaaagccacagtccGccaagccgtcggggaccccc	9	3	9	20	3	0	0	0	0	0	0	3	1	2	1	8	2	2	0	8	2	2	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:133760582G>A	ENST00000318560.5	+	11	3286	c.2905G>A	c.(2905-2907)Gcc>Acc	p.A969T		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	969	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCCACAGTCCGCCAAGCCGTC	0.667			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	uc004bzw.3				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(2905-2907)Gcc>Acc		Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						40	49	46					9																	133760582		2201	4297	6498	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760582G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2905G>A	9.37:g.133760582G>A	ENSP00000323315:p.Ala969Thr					ABL1_uc004bzv.3_Missense_Mutation_p.A988T	p.A969T	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	10	2908	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	969			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.2905G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310473	0.23821	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.10960	2.82;2.82	5.27	-8.63	0.00878	F-actin binding (1);	0.637464	0.17132	N	0.185799	T	0.02688	0.0081	N	0.03324	-0.35	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.29882	-0.9997	10	0.21540	T	0.41	.	5.9674	0.19332	0.2866:0.1113:0.4935:0.1086	.	969;1006	P00519;Q59FK4	ABL1_HUMAN;.	T	784;988;969	ENSP00000361423:A988T;ENSP00000323315:A969T	ENSP00000323315:A969T	A	+	1	0	ABL1	132750403	0.000000	0.05858	0.009000	0.14445	0.881000	0.50899	-0.412000	0.07132	-1.679000	0.01452	-0.340000	0.08031	GCC		0.667	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		A	133760582	G	A	133760582	3	1	89	1	0	0	0	0	1	0	0	0	92	1087	38	1	3087	1	ABL1	9	133760582	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	9698297	133760582	7452849	39	5950											
RXRA	6256	broad.mit.edu	37	chr9	137300840	137300840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcttcttcaagcggaCggtgcgcaaggacctgacct	9	7	13	12	3	2	1	1	1	1	0	2	3	2	3	2	4	2	2	2	4	3	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:137300840C>T	ENST00000481739.1	+	4	537	c.485C>T	c.(484-486)aCg>aTg	p.T162M	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.T65M	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	162					camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TTCAAGCGGACGGTGCGCAAG	0.647																																						uc004cfb.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(484-486)aCg>aTg		Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						128	106	114					9																	137300840		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137300840C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.485C>T	9.37:g.137300840C>T	ENSP00000419692:p.Thr162Met					RXRA_uc004cfc.1_Missense_Mutation_p.T65M	p.T162M	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	3	647	+			162					B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.485C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911363	0.72983	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.97731	-4.51;-4.51	4.25	3.34	0.38264	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98988	1.0807	10	0.87932	D	0	.	12.4439	0.55639	0.0:0.9158:0.0:0.0841	.	162	P19793	RXRA_HUMAN	M	162;65	ENSP00000419692:T162M;ENSP00000442123:T65M	ENSP00000419692:T162M	T	+	2	0	RXRA	136440661	1.000000	0.71417	0.955000	0.39395	0.979000	0.70002	4.532000	0.60608	0.883000	0.36040	0.561000	0.74099	ACG		0.647	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		T	137300840	C	T	137300840	3	4	89	1	0	0	0	0	1	0	0	0	13763	536	19	1	499	1	RXRA	9	137300840	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	3540258	137300840	3912591	40	5951											
PTEN	5728	broad.mit.edu	37	chr10	89720831	89720831	+	Frame_Shift_Del	DEL	G	G	-																															caaaaaatgatcttgacaaaGcaaataaagacaaagccaac																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr10:89720831delG	ENST00000371953.3	+	8	2339	c.982delG	c.(982-984)gcafs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTGACAAAGCAAATAAAGA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(982-984)gcafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							75	77	76					10																	89720831		2203	4299	6502	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720831delG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.982delG	10.37:g.89720831delG	ENSP00000361021:p.Ala328fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.A328fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2014	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	328			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.982delG	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720831	G	-	89720831	7	5	89	1	0	1	0	1	0	0	0	0	12738	971	34	0	1012	0	PTEN	10	89720831	Frame_Shift_Del	DEL	G	TCGA-06-5412-01A-01D-1696-08		89720831	45813916	41	5952											
LRRC32	2615	broad.mit.edu	37	chr11	76371805	76371805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggccctgtggggagccGgatgaggttgttggacaagt	6	9	20	6	1	0	1	0	1	0	0	0	4	0	4	2	7	1	2	2	7	1	2	rs576424220		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr11:76371805G>A	ENST00000407242.2	-	3	1074	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	LRRC32_ENST00000260061.5_Missense_Mutation_p.R278W|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R278W|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	278					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGGGAGCCGGATGAGGTTG	0.652																																						uc001oxq.4																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(832-834)Cgg>Tgg		Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.							53	51	52					11																	76371805		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371805G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.832C>T	11.37:g.76371805G>A	ENSP00000384126:p.Arg278Trp					LRRC32_uc001oxr.4_Missense_Mutation_p.R278W|LRRC32_uc010rsf.2_Missense_Mutation_p.R278W	p.R278W	NM_005512	NP_005503	Q14392	LRC32_HUMAN			2	1075	-			278					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.832C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209483	0.58343	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.80214	-1.35;-1.35;-1.35	4.42	3.49	0.39957	.	0.553031	0.19168	N	0.121012	T	0.81716	0.4881	M	0.67517	2.055	0.40347	D	0.979097	D	0.76494	0.999	P	0.47528	0.549	D	0.84164	0.0430	10	0.72032	D	0.01	.	13.7074	0.62648	0.0:0.0:0.8447:0.1553	.	278	Q14392	LRC32_HUMAN	W	278	ENSP00000260061:R278W;ENSP00000384126:R278W;ENSP00000385766:R278W	ENSP00000260061:R278W	R	-	1	2	LRRC32	76049453	1.000000	0.71417	0.995000	0.50966	0.744000	0.42396	4.531000	0.60602	1.055000	0.40461	0.455000	0.32223	CGG		0.652	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		A	76371805	G	A	76371805	3	1	89	1	0	0	0	0	1	0	0	0	8987	1115	39	2	1160	2	LRRC32	11	76371805	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		76371805	58634711	42	5953											
GRAMD1B	57476	broad.mit.edu	37	chr11	123485469	123485469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggttccacacagacgcgGcatatcccggaggacacccc	11	4	10	16	3	0	1	0	0	0	1	2	3	2	3	4	4	0	2	4	4	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr11:123485469G>A	ENST00000529750.1	+	16	2142	c.1815G>A	c.(1813-1815)cgG>cgA	p.R605R	GRAMD1B_ENST00000322282.7_Silent_p.R605R|GRAMD1B_ENST00000456860.2_Silent_p.R612R|GRAMD1B_ENST00000450171.2_Silent_p.R296R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	605						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACAGACGCGGCATATCCCGG	0.537																																						uc001pyw.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1834-1836)cgG>cgA		Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.							61	61	61					11																	123485469		1964	4142	6106	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123485469G>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1815G>A	11.37:g.123485469G>A						GRAMD1B_uc001pyx.2_Silent_p.R605R|GRAMD1B_uc010rzw.2_Silent_p.R565R|GRAMD1B_uc010rzx.1_Silent_p.R565R|GRAMD1B_uc001pyy.2_Silent_p.R296R	p.R612R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	16	2165	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	605					Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.1836G>A	CCDS53720.1																																																																																				0.537	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		A	123485469	G	A	123485469	2	1	89	1	0	0	0	0	0	0	0	1	6748	1190	42	3		3	GRAMD1B	11	123485469	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	47113664	123485469	11521047	43	5954											
DDX11	1663	broad.mit.edu	37	chr12	31236988	31236988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagggacctggtggaccGactaaaggtgagacctgggg	11	5	18	7	1	0	2	0	1	0	2	0	7	0	4	3	6	0	0	3	6	2	1	rs369920569		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr12:31236988G>T	ENST00000407793.2	+	3	637	c.386G>T	c.(385-387)cGa>cTa	p.R129L	DDX11_ENST00000542838.1_Missense_Mutation_p.R129L|DDX11_ENST00000545668.1_Missense_Mutation_p.R129L|DDX11_ENST00000228264.6_Missense_Mutation_p.R103L|DDX11_ENST00000251758.5_Missense_Mutation_p.R129L|DDX11_ENST00000350437.4_Missense_Mutation_p.R129L	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	129	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGGTGGACCGACTAAAGGTG	0.587										Multiple Myeloma(12;0.14)																												uc001rjt.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(385-387)cGa>cTa		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.							55	67	63					12																	31236988		2202	4299	6501	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236988G>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.386G>T	12.37:g.31236988G>T	ENSP00000384703:p.Arg129Leu	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.R129L|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R129L|DDX11_uc001rjs.1_Missense_Mutation_p.R129L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R129L|DDX11_uc001rjw.1_Missense_Mutation_p.R103L	p.R129L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			2	637	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		129			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.386G>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223219	0.39300	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T;T	0.59772	4.04;4.04;4.04;4.04;0.24;4.04;4.04;4.04;4.04	4.57	3.68	0.42216	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.112857	0.64402	D	0.000014	T	0.68210	0.2976	M	0.75777	2.31	0.44908	D	0.997929	D;D;D;D	0.63880	0.993;0.986;0.985;0.993	P;P;P;P	0.61722	0.884;0.714;0.844;0.893	T	0.68300	-0.5445	10	0.51188	T	0.08	.	7.1205	0.25442	0.2017:0.0:0.7983:0.0	.	129;129;129;129	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	L	129;129;129;103;129;103;129;129;165	ENSP00000443426:R129L;ENSP00000384703:R129L;ENSP00000251758:R129L;ENSP00000228264:R103L;ENSP00000407646:R129L;ENSP00000406457:R103L;ENSP00000440402:R129L;ENSP00000309965:R129L;ENSP00000440171:R165L	ENSP00000228264:R103L	R	+	2	0	DDX11	31128255	1.000000	0.71417	0.217000	0.23759	0.118000	0.20060	3.409000	0.52657	1.149000	0.42402	-0.424000	0.05967	CGA		0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		T	31236988	G	T	31236988	3	4	89	1	0	0	0	0	1	0	0	0	4343	1058	37	5	392	5	DDX11	12	31236988	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		31236988	102614907	44	5955											
PTPN11	5781	broad.mit.edu	37	chr12	112926909	112926909	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtccagacagaagcacAgtaccgatttatctatatgg	13	10	10	8	1	1	2	0	0	1	2	2	4	2	2	2	2	2	2	2	2	5	5	rs121918470		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr12:112926909A>T	ENST00000351677.2	+	13	1727	c.1529A>T	c.(1528-1530)cAg>cTg	p.Q510L		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	514	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Q -> P (in LEOPARD1). {ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15690106}.|Q -> R (in NS1). {ECO:0000269|PubMed:15948193}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACAGAAGCACAGTACCGATTT	0.498			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													uc001ttx.3				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		0		p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM043070|CM052358	PTPN11	M	rs121918470	c.(1528-1530)cAg>cTg		Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.							182	170	174					12																	112926909		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926909A>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1529A>T	12.37:g.112926909A>T	ENSP00000340944:p.Gln510Leu						p.Q510L	NM_002834	NP_002825	Q06124	PTN11_HUMAN			12	1909	+			514		Q -> P (in LEOPARD1).|Q -> R (in NS1).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1529A>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	32	5.128559	0.94473	.	.	ENSG00000179295	ENST00000351677	D	0.99663	-6.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96994	0.9724	10	0.87932	D	0	.	15.2256	0.73348	1.0:0.0:0.0:0.0	.	510	Q06124-2	.	L	510	ENSP00000340944:Q510L	ENSP00000340944:Q510L	Q	+	2	0	PTPN11	111411292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.064000	0.61679	0.528000	0.53228	CAG		0.498	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			T	112926909	A	T	112926909	3	4	89	1	0	0	0	0	1	0	0	0	12780	188	7	5	1579	5	PTPN11	12	112926909	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08	81689921	112926909	20924986	45	5956											
DIAPH3	81624	broad.mit.edu	37	chr13	60686198	60686198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagtggctttggaaaGttctccatcatctctaaagg	10	13	9	9	0	4	1	1	1	3	0	6	2	4	2	1	3	0	2	1	3	3	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr13:60686198G>T	ENST00000400324.4	-	3	556	c.336C>A	c.(334-336)aaC>aaA	p.N112K	DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Missense_Mutation_p.N112K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.N112K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.N101K|DIAPH3_ENST00000377908.2_Missense_Mutation_p.N101K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	112					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTTTGGAAAGTTCTCCATCA	0.403																																						uc001vht.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(334-336)aaC>aaA		Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.							170	158	162					13																	60686198		1845	4100	5945	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686198G>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.336C>A	13.37:g.60686198G>T	ENSP00000383178:p.Asn112Lys					DIAPH3_uc001vhw.1_Missense_Mutation_p.N101K|DIAPH3_uc010aed.1_Missense_Mutation_p.N101K|DIAPH3_uc010aee.1_Intron	p.N112K	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	2	555	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	112					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.336C>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	5.648	0.304272	0.10678	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;D;T	0.82526	-1.4;-1.4;-1.41;-1.62;-1.39	5.82	0.602	0.17535	.	0.366869	0.28606	N	0.014746	T	0.74869	0.3773	L	0.40543	1.245	0.09310	N	1	P;P;P	0.50528	0.936;0.867;0.454	P;B;B	0.44673	0.457;0.267;0.084	T	0.66590	-0.5885	10	0.27082	T	0.32	.	10.5631	0.45156	0.4462:0.0:0.5538:0.0	.	101;101;112	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	K	112;112;101;101;101;101;112;112	ENSP00000383178:N112K;ENSP00000383184:N112K;ENSP00000367141:N101K;ENSP00000383174:N101K;ENSP00000267215:N112K	ENSP00000267215:N112K	N	-	3	2	DIAPH3	59584199	0.015000	0.18098	0.029000	0.17559	0.084000	0.17831	0.114000	0.15520	0.119000	0.18210	0.655000	0.94253	AAC		0.403	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60686198	G	T	60686198	3	4	89	1	0	0	0	0	1	0	0	0	4520	1020	36	5	3369	5	DIAPH3	13	60686198	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		60686198	54483680	46	5957											
MAP3K9	4293	broad.mit.edu	37	chr14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgtccctggcccccacGtccgtcccttcttctttggg	3	11	9	18	3	2	0	0	0	2	0	5	0	5	0	5	2	1	0	5	2	1	3	rs572761925		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:71205013G>A	ENST00000554752.2	-	8	1792	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M|MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	598					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCCCCCACGTCCGTCCCTT	0.557													G|||	1	0.000199681	0	0	5008	,	,		17354	0.001		0	False		,,,				2504	0				GBM(114;411 1587 13539 28235 50070)	uc001xmm.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1792-1794)aCg>aTg		Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.							123	113	116					14																	71205013		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71205013G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1793C>T	14.37:g.71205013G>A	ENSP00000451612:p.Thr598Met					MAP3K9_uc010ttk.2_Missense_Mutation_p.T335M|MAP3K9_uc001xmk.3_Missense_Mutation_p.T340M|MAP3K9_uc001xml.3_Missense_Mutation_p.T598M	p.T598M	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	7	1793	-			598					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1793C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.341792	0.81911	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.97	5.97	0.96955	.	0.104409	0.64402	D	0.000005	T	0.42131	0.1189	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.12041	-1.0563	10	0.72032	D	0.01	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	335;598;598;340	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	M	598;598;340;598;335;326	ENSP00000451612:T598M;ENSP00000451038:T340M;ENSP00000370649:T598M;ENSP00000451921:T335M	ENSP00000005198:T598M	T	-	2	0	MAP3K9	70274766	1.000000	0.71417	0.974000	0.42286	0.342000	0.28953	7.996000	0.88334	2.837000	0.97791	0.655000	0.94253	ACG		0.557	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			A	71205013	G	A	71205013	3	1	89	1	0	0	0	0	1	0	0	0	9257	1145	40	1	1587	1	MAP3K9	14	71205013	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		71205013	36144527	47	5958											
AHSA1	10598	broad.mit.edu	37	chr14	77930956	77930956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagttcacccagggcaTgatcttacctacaatgaatg	12	11	8	10	0	3	3	2	2	1	1	3	3	3	3	2	1	2	2	2	1	4	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:77930956T>A	ENST00000216479.3	+	5	648	c.488T>A	c.(487-489)aTg>aAg	p.M163K	AHSA1_ENST00000555457.1_Intron|SNORA46_ENST00000391069.1_RNA|AHSA1_ENST00000535854.2_Missense_Mutation_p.M163K	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	163					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCCAGGGCATGATCTTACCT	0.468																																						uc001xtw.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(487-489)aTg>aAg		Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.							81	80	80					14																	77930956		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77930956T>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.488T>A	14.37:g.77930956T>A	ENSP00000216479:p.Met163Lys					AHSA1_uc010tvk.1_Missense_Mutation_p.M163K	p.M163K	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	648	+			163					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.488T>A	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.149308|4.149308	0.78001|0.78001	.|.	.|.	ENSG00000100591|ENSG00000100591	ENST00000553374|ENST00000555133;ENST00000216479;ENST00000535854	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77377|0.77377	0.4121|0.4121	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|D;D	.|0.75484	.|0.943;0.986	T|T	0.75033|0.75033	-0.3460|-0.3460	5|9	.|0.26408	.|T	.|0.33	-27.4274|-27.4274	14.9676|14.9676	0.71208|0.71208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|163;163	.|B4DUR9;O95433	.|.;AHSA1_HUMAN	Q|K	108|28;163;163	.|.	.|ENSP00000216479:M163K	H|M	+|+	3|2	2|0	AHSA1|AHSA1	77000709|77000709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.317000|7.317000	0.79018|0.79018	2.330000|2.330000	0.79161|0.79161	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.468	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		A	77930956	T	A	77930956	3	1	89	1	0	0	0	0	1	0	0	0	418	1464	51	5	506	5	AHSA1	14	77930956	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	6725943	77930956	29418584	48	5959			1	22		2	2	42	N	T_G	9.667864e-05
AHSA1	10598	broad.mit.edu	37	chr14	77930997	77930997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagtcagtagacccagtgGggcagccagcactgaaaact	13	5	13	10	0	1	3	1	1	0	2	1	4	1	3	2	2	3	3	2	2	3	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:77930997G>A	ENST00000216479.3	+	5	689	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	AHSA1_ENST00000555457.1_Intron|SNORA46_ENST00000391069.1_RNA|AHSA1_ENST00000535854.2_Missense_Mutation_p.G177R	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	177					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGACCCAGTGGGGCAGCCAGC	0.473																																						uc001xtw.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(529-531)Ggg>Agg		Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.							73	73	73					14																	77930997		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77930997G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.529G>A	14.37:g.77930997G>A	ENSP00000216479:p.Gly177Arg					AHSA1_uc010tvk.1_Missense_Mutation_p.G177R	p.G177R	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	689	+			177					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.529G>A	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.45|11.45	1.642980|1.642980	0.29246|0.29246	.|.	.|.	ENSG00000100591|ENSG00000100591	ENST00000553374|ENST00000555133;ENST00000216479;ENST00000535854	.|.	.|.	.|.	6.08|6.08	1.95|1.95	0.26073|0.26073	.|.	0.542697|0.542697	0.21954|0.21954	N|N	0.066695|0.066695	T|T	0.26085|0.26085	0.0636|0.0636	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.18304|0.18304	-1.0341|-1.0341	6|9	.|0.17369	.|T	.|0.5	-2.5832|-2.5832	7.103|7.103	0.25348|0.25348	0.1852:0.4478:0.367:0.0|0.1852:0.4478:0.367:0.0	.|.	.|177;177	.|B4DUR9;O95433	.|.;AHSA1_HUMAN	E|R	122|42;177;177	.|.	.|ENSP00000216479:G177R	G|G	+|+	2|1	0|0	AHSA1|AHSA1	77000750|77000750	0.216000|0.216000	0.23585|0.23585	0.113000|0.113000	0.21522|0.21522	0.981000|0.981000	0.71138|0.71138	0.644000|0.644000	0.24766|0.24766	0.403000|0.403000	0.25479|0.25479	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.473	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		A	77930997	G	A	77930997	3	1	89	1	0	0	0	0	1	0	0	0	418	1232	43	3	547	3	AHSA1	14	77930997	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	41	77930997	29418543	49	5960			1	22		2	2	42	N	T_G	9.667864e-05
RPS6KA5	9252	broad.mit.edu	37	chr14	91372576	91372576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatctttcatcaaaagacGctgaattaggtctttcgcta	11	13	9	8	2	4	2	2	1	2	1	5	3	4	3	0	2	0	2	0	2	5	4	rs534048620		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:91372576G>A	ENST00000261991.3	-	8	1047	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R213C|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R292C	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	292	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATCAAAAGACGCTGAATTAGG	0.383													G|||	1	0.000199681	0	0.0014	5008	,	,		18748	0		0	False		,,,				2504	0					uc001xys.2																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(874-876)Cgt>Tgt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.							111	104	106					14																	91372576		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91372576G>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.874C>T	14.37:g.91372576G>A	ENSP00000261991:p.Arg292Cys					RPS6KA5_uc010twi.1_Missense_Mutation_p.R213C|RPS6KA5_uc001xyt.3_Missense_Mutation_p.R292C|RPS6KA5_uc010att.1_Non-coding_Transcript	p.R292C	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	7	1089	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	292			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.874C>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879614	0.51801	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.53423	0.62;0.62;0.62	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.225560	0.47093	D	0.000243	T	0.42017	0.1184	M	0.71296	2.17	0.80722	D	1	P;B	0.35959	0.53;0.375	B;B	0.24974	0.057;0.047	T	0.46775	-0.9167	10	0.52906	T	0.07	.	9.9904	0.41868	0.1514:0.0:0.8486:0.0	.	292;292	O75582-2;O75582	.;KS6A5_HUMAN	C	292;213;292	ENSP00000261991:R292C;ENSP00000442803:R213C;ENSP00000402787:R292C	ENSP00000261991:R292C	R	-	1	0	RPS6KA5	90442329	1.000000	0.71417	0.899000	0.35326	0.916000	0.54674	3.104000	0.50306	2.640000	0.89533	0.585000	0.79938	CGT		0.383	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		A	91372576	G	A	91372576	3	1	89	1	0	0	0	0	1	0	0	0	13654	1087	38	1	1580	1	RPS6KA5	14	91372576	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	13441579	91372576	15976964	50	5961											
SENP8	123228	broad.mit.edu	37	chr15	72432087	72432090	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															gcgtttgagtactttgccaaCagtcagtttcatgactgctc																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr15:72432087_72432090delCAGT	ENST00000542035.2	+	2	456_459	c.123_126delCAGT	c.(121-126)aacagtfs	p.NS41fs	SENP8_ENST00000544411.1_Frame_Shift_Del_p.NS41fs|SENP8_ENST00000544171.1_Frame_Shift_Del_p.NS41fs|SENP8_ENST00000340912.4_Frame_Shift_Del_p.NS41fs|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	41	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ACTTTGCCAACAGTCAGTTTCATG	0.475																																						uc021spq.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(121-126)aacagtfs		Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432087_72432090delCAGT	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.123_126delCAGT	15.37:g.72432091_72432094delCAGT	ENSP00000446057:p.Asn41fs					SENP8_uc021spr.1_Frame_Shift_Del_p.N41fs|SENP8_uc021sps.1_Frame_Shift_Del_p.N41fs|SENP8_uc021spt.1_Frame_Shift_Del_p.N41fs|SENP8_uc002atp.3_Frame_Shift_Del_p.N41fs|SENP8_uc021spu.1_Frame_Shift_Del_p.N41fs	p.N41fs	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN			1	456_459	+			41			Protease.		Q96QA4	Frame_Shift_Del	DEL	ENST00000542035.2	37	c.123_126delCAGT	CCDS10240.1																																																																																				0.475	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		-	72432090	CAGT	-	72432087	7	5	89	1	0	1	0	1	0	0	0	0	14052	477	17	0	125	0	SENP8	15	72432087	Frame_Shift_Del	DEL	CAGT	TCGA-06-5412-01A-01D-1696-08		72432087	30099305	51	5962											
RHBDL1	9028	broad.mit.edu	37	chr16	726867	726867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcagctgcccaccccccGtgttcatggcctcggtcact	5	8	9	19	3	2	0	2	0	0	0	3	0	2	0	6	2	2	3	6	2	0	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:726867G>A	ENST00000219551.2	+	2	619	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.V133M|LA16c-313D11.9_ENST00000571933.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	198					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCCACCCCCCGTGTTCATGGC	0.667																																						uc002cis.1																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(592-594)Gtg>Atg		Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.							83	76	78					16																	726867		2201	4300	6501	SO:0001583	missense	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726867G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.592G>A	16.37:g.726867G>A	ENSP00000219551:p.Val198Met					RHBDL1_uc002cir.1_Missense_Mutation_p.V133M|RHBDL1_uc010uun.1_Missense_Mutation_p.V133M	p.V198M	NM_003961	NP_003952	O75783	RHBL1_HUMAN			1	619	+		Hepatocellular(780;0.0218)	198					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	c.592G>A	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407879	0.62399	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.12039	2.72;2.72	4.01	4.01	0.46588	.	0.082827	0.49305	D	0.000149	T	0.10766	0.0263	N	0.14661	0.345	0.51012	D	0.999904	D;D;P	0.63046	0.992;0.966;0.93	P;P;P	0.48840	0.584;0.483;0.592	T	0.04752	-1.0929	10	0.52906	T	0.07	-29.4608	8.8043	0.34927	0.1048:0.0:0.8952:0.0	.	133;198;133	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	M	133;133;198	ENSP00000344206:V133M;ENSP00000219551:V198M	ENSP00000219551:V198M	V	+	1	0	RHBDL1	666868	0.998000	0.40836	0.969000	0.41365	0.981000	0.71138	2.727000	0.47311	2.079000	0.62486	0.462000	0.41574	GTG		0.667	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		A	726867	G	A	726867	3	1	89	1	0	0	0	0	1	0	0	0	13321	1145	40	1	598	1	RHBDL1	16	726867	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		726867	89627886	52	5963											
NOD2	64127	broad.mit.edu	37	chr16	50733737	50733737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagacctgcagagtcacCggccagccattgtcaggagg	9	5	13	14	2	2	2	2	0	0	2	2	4	2	3	5	3	2	1	5	3	0	1	rs184502667		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:50733737C>G	ENST00000300589.2	+	2	517	c.412C>G	c.(412-414)Cgg>Ggg	p.R138G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	138	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAGAGTCACCGGCCAGCCAT	0.632																																						uc002egm.1																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(412-414)Cgg>Ggg		Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.							43	44	43					16																	50733737		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733737C>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.412C>G	16.37:g.50733737C>G	ENSP00000300589:p.Arg138Gly					NOD2_uc010cbj.1_Missense_Mutation_p.R111G|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.R111G|NOD2_uc002egl.1_5'UTR	p.R138G	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			1	517	+		all_cancers(37;0.0156)	138			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.412C>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792885	0.70452	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.35048	1.76;1.33	5.29	4.28	0.50868	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.49916	D	0.000136	T	0.51092	0.1654	M	0.65498	2.005	0.50632	D	0.999884	D	0.56287	0.975	P	0.60682	0.878	T	0.53401	-0.8444	10	0.87932	D	0	.	9.4899	0.38953	0.2644:0.7356:0.0:0.0	.	138	Q9HC29	NOD2_HUMAN	G	111;111;138	ENSP00000431681:R111G;ENSP00000300589:R138G	ENSP00000300589:R138G	R	+	1	2	NOD2	49291238	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	2.557000	0.45871	2.482000	0.83794	0.591000	0.81541	CGG		0.632	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		G	50733737	C	G	50733737	3	3	89	1	0	0	0	0	1	0	0	0	10517	643	23	5	418	5	NOD2	16	50733737	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	50006870	50733737	39621016	53	5964											
GPR56	9289	broad.mit.edu	37	chr16	57688009	57688009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctccagcccacagcCggcctccaggacctgcacat	9	5	10	17	1	0	0	0	0	0	0	2	2	2	2	6	3	4	2	6	3	1	0	rs374209597		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:57688009C>T	ENST00000388812.4	+	5	1172	c.732C>T	c.(730-732)gcC>gcT	p.A244A	GPR56_ENST00000540164.2_Silent_p.A244A|GPR56_ENST00000544297.1_Silent_p.A69A|GPR56_ENST00000379694.4_Silent_p.A74A|GPR56_ENST00000568908.1_Silent_p.A244A|GPR56_ENST00000538815.1_Silent_p.A244A|GPR56_ENST00000562631.1_Silent_p.A244A|GPR56_ENST00000567835.1_Silent_p.A244A|GPR56_ENST00000379696.3_Silent_p.A244A|GPR56_ENST00000562558.1_Silent_p.A244A|GPR56_ENST00000388813.5_Silent_p.A244A|GPR56_ENST00000568909.1_Silent_p.A244A|GPR56_ENST00000456916.1_Silent_p.A244A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	244					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AGCCCACAGCCGGCCTCCAGG	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		14729	0		0	False		,,,				2504	0					uc002emb.2																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(730-732)gcC>gcT		Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.		C	,,,,,,,	1,4395	2.1+/-5.4	0,1,2197	42	44	43		732,732,732,747,732,732,732,732	-4.2	0	16		43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPR56	NM_001145770.1,NM_001145771.1,NM_001145772.1,NM_001145773.1,NM_001145774.1,NM_005682.5,NM_201524.2,NM_201525.2	,,,,,,,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,,,,,,,	244/688,244/694,244/688,249/693,244/688,244/694,244/688,244/688	57688009	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57688009C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.732C>T	16.37:g.57688009C>T						GPR56_uc002elz.1_Silent_p.A74A|GPR56_uc002ema.1_Silent_p.A69A|GPR56_uc002emc.2_Silent_p.A244A|GPR56_uc002emf.2_Silent_p.A244A|GPR56_uc010vhs.1_Silent_p.A244A|GPR56_uc002emd.2_Silent_p.A244A|GPR56_uc002eme.2_Silent_p.A244A|GPR56_uc010vht.1_Silent_p.A249A|GPR56_uc002emg.3_Silent_p.A244A|GPR56_uc010vhu.1_Silent_p.A69A	p.A244A	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			5	1024	+			244					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.732C>T	CCDS32460.1																																																																																				0.662	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			T	57688009	C	T	57688009	2	4	89	1	0	0	0	0	0	0	0	1	6700	639	23	2		2	GPR56	16	57688009	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	6954272	57688009	32666744	54	5965											
NF1	4763	broad.mit.edu	37	chr17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aatcgctttaaaacagacttTctctctaagtggtttgttgt																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr17:29652976_29652979delTCTC	ENST00000358273.4	+	37	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.FL1658fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.FL1637fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)	p.0?(8)|p.?(3)|p.S1660fs*37(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD972357	NF1	D		c.(4972-4977)tttctcfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652976_29652979delTCTC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4974_4977delTCTC	17.37:g.29652976_29652979delTCTC	ENSP00000351015:p.Phe1658fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	p.F1658fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	36	5357_5360	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1658			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4974_4977delTCTC	CCDS42292.1																																																																																				0.422	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29652979	TCTC	-	29652976	7	5	89	1	0	1	0	1	0	0	0	0	10356	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-06-5412-01A-01D-1696-08		29652976	51542234	55	5966											
KRT35	3886	broad.mit.edu	37	chr17	39637191	39637191	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgcccagacccacTgagcaggcagagaaacttct	10	8	9	14	0	2	3	0	1	2	2	2	4	2	3	2	1	4	3	2	1	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr17:39637191T>A	ENST00000393989.1	-	1	201	c.159A>T	c.(157-159)tcA>tcT	p.S53S	KRT35_ENST00000246639.2_Silent_p.S23S	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	53	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCAGACCCACTGAGCAGGCAG	0.632																																						uc002hws.3																			0		p.S53L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(157-159)tcA>tcT		Homo sapiens keratin 35 (KRT35), mRNA.							36	43	41					17																	39637191		2079	4221	6300	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637191T>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.159A>T	17.37:g.39637191T>A							p.S53S	NM_002280	NP_002271	Q92764	KRT35_HUMAN			0	202	-		Breast(137;0.000286)	53			Head.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.159A>T	CCDS11394.2																																																																																				0.632	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		A	39637191	T	A	39637191	2	1	89	1	0	0	0	0	0	0	0	1	8472	1567	55	5		5	KRT35	17	39637191	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	9984215	39637191	41558019	56	5967											
PTPRM	5797	broad.mit.edu	37	chr18	8244151	8244151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagagctatgctgagcaggGcacaaactgcgacgaggctt	12	6	13	10	2	0	2	0	1	0	1	0	4	0	2	0	2	5	5	0	2	3	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:8244151G>A	ENST00000332175.8	+	15	3433	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D	PTPRM_ENST00000400060.4_Missense_Mutation_p.G799D|PTPRM_ENST00000580170.1_Missense_Mutation_p.G799D|PTPRM_ENST00000400053.4_Missense_Mutation_p.G737D|PTPRM_ENST00000444013.1_Missense_Mutation_p.G586D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	799					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTGAGCAGGGCACAAACTGC	0.483																																						uc002knn.4																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2395-2397)gGc>gAc		Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.							162	146	151					18																	8244151		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8244151G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2396G>A	18.37:g.8244151G>A	ENSP00000331418:p.Gly799Asp					PTPRM_uc010dkv.3_Missense_Mutation_p.G799D|PTPRM_uc010wzl.2_Missense_Mutation_p.G586D	p.G799D	NM_002845	NP_002836	P28827	PTPRM_HUMAN			14	2899	+		Colorectal(10;0.234)	799					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2396G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369959	0.95900	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.47177	1.19;1.21;1.02;0.85	5.82	5.82	0.92795	.	0.050962	0.85682	D	0.000000	T	0.50786	0.1636	L	0.57536	1.79	0.80722	D	1	B;P;P	0.40970	0.071;0.734;0.734	B;B;B	0.40329	0.045;0.326;0.326	T	0.47749	-0.9093	10	0.39692	T	0.17	.	20.1178	0.97943	0.0:0.0:1.0:0.0	.	586;799;799	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	D	799;799;737;586	ENSP00000331418:G799D;ENSP00000382933:G799D;ENSP00000382927:G737D;ENSP00000387608:G586D	ENSP00000331418:G799D	G	+	2	0	PTPRM	8234151	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.759000	0.94783	0.557000	0.71058	GGC		0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	8244151	G	A	8244151	3	1	89	1	0	0	0	0	1	0	0	0	12806	1203	42	3	2454	3	PTPRM	18	8244151	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		8244151	69833097	57	5968											
PPP4R1	9989	broad.mit.edu	37	chr18	9570482	9570482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattactagctgcttcctGgtgagattctgaggacaaag	10	12	10	9	0	2	2	1	2	1	1	3	4	3	3	1	2	3	2	1	2	3	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:9570482G>A	ENST00000400556.3	-	11	1319	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.Q399*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	416					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GCTGCTTCCTGGTGAGATTCT	0.443																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			0				large_intestine(1)|skin(2)	3						c.(1246-1248)Cag>Tag		Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.							73	71	72					18																	9570482		1869	4103	5972	SO:0001587	stop_gained	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570482G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1246C>T	18.37:g.9570482G>A	ENSP00000383402:p.Gln416*					PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q262*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q399*|PPP4R1_uc010wzp.1_Non-coding_Transcript	p.Q416*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			10	1364	-			416					Q99774|Q9UNQ7	Nonsense_Mutation	SNP	ENST00000400556.3	37	c.1246C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	39	7.450131	0.98292	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	.	.	.	5.32	5.32	0.75619	.	0.323970	0.25780	N	0.028353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3753	9.6963	0.40158	0.0:0.1615:0.6918:0.1467	.	.	.	.	X	416;399;327	.	.	Q	-	1	0	PPP4R1	9560482	0.375000	0.25089	0.874000	0.34290	0.941000	0.58515	2.298000	0.43602	2.638000	0.89438	0.591000	0.81541	CAG		0.443	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		A	9570482	G	A	9570482	4	1	89	1	0	0	0	0	0	1	0	0	12403	1357	47	3	1646	3	PPP4R1	18	9570482	Nonsense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	1326331	9570482	68506766	58	5969											
NPC1	4864	broad.mit.edu	37	chr18	21120489	21120489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgacagaacacccaCaaatattgctatctggaaca	16	8	7	10	0	1	3	0	2	1	1	1	4	1	4	1	1	3	2	1	1	6	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:21120489C>T	ENST00000269228.5	-	17	3081	c.2527G>A	c.(2527-2529)Gtg>Atg	p.V843M	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V525M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	843					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAACACCCACAAATATTGCT	0.363																																						uc002kum.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2527-2529)Gtg>Atg		Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.							94	85	88					18																	21120489		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21120489C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2527G>A	18.37:g.21120489C>T	ENSP00000269228:p.Val843Met					NPC1_uc010xaz.2_Missense_Mutation_p.V576M|NPC1_uc010xba.1_Missense_Mutation_p.V688M	p.V843M	NM_000271	NP_000262	O15118	NPC1_HUMAN			16	2801	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		843					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2527G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740050	0.89573	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.94138	-3.36;-3.36	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93488	0.7922	M	0.73962	2.25	0.80722	D	1	P;P	0.38800	0.648;0.476	B;B	0.41466	0.358;0.231	D	0.93161	0.6558	10	0.51188	T	0.08	-24.8818	15.4893	0.75593	0.0:0.9339:0.0:0.0661	.	854;843	Q59GR1;O15118	.;NPC1_HUMAN	M	843;525;688	ENSP00000269228:V843M;ENSP00000408606:V525M	ENSP00000269228:V843M	V	-	1	0	NPC1	19374487	1.000000	0.71417	0.988000	0.46212	0.943000	0.58893	5.905000	0.69893	1.575000	0.49775	0.655000	0.94253	GTG		0.363	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		T	21120489	C	T	21120489	3	4	89	1	0	0	0	0	1	0	0	0	10570	478	17	3	1345	3	NPC1	18	21120489	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	11550007	21120489	56956759	59	5970											
KIAA1012	22878	broad.mit.edu	37	chr18	29487454	29487454	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcataaagcattgcttgaTcattaagaaaatctttcttt	13	16	5	7	0	3	2	1	1	2	1	3	2	3	2	0	0	3	3	0	0	5	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:29487454T>G	ENST00000283351.4	-	9	1693	c.1358A>C	c.(1357-1359)gAt>gCt	p.D453A	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D453A|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D399A	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	453					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATTGCTTGATCATTAAGAAA	0.338																																						uc002kxc.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1357-1359)gAt>gCt		Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.							80	81	81					18																	29487454		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29487454T>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1358A>C	18.37:g.29487454T>G	ENSP00000283351:p.Asp453Ala					TRAPPC8_uc002kxb.4_Missense_Mutation_p.D399A|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.D453A|TRAPPC8_uc002kxe.2_Missense_Mutation_p.D453A	p.D453A	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			8	1722	-			453					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.1358A>C	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423015	0.43020	.	.	ENSG00000153339	ENST00000283351	T	0.55234	0.53	5.36	5.36	0.76844	.	0.160182	0.53938	D	0.000056	T	0.73583	0.3605	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74023	0.982;0.976	T	0.78168	-0.2309	10	0.72032	D	0.01	.	13.9178	0.63911	0.0:0.0:0.0:1.0	.	453;453	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	A	453	ENSP00000283351:D453A	ENSP00000283351:D453A	D	-	2	0	TRAPPC8	27741452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.636000	0.83301	2.021000	0.59480	0.528000	0.53228	GAT		0.338	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		G	29487454	T	G	29487454	3	3	89	1	0	0	0	0	1	0	0	0	8204	1435	50	5	3033	5	KIAA1012	18	29487454	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	8366965	29487454	48589794	60	5971											
CREB3L3	84699	broad.mit.edu	37	chr19	4164609	4164609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggctaaagaaggcatcaCcctgcccactcagctgcccc	9	6	9	17	0	2	1	2	0	0	1	2	1	2	1	4	2	3	4	4	2	3	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr19:4164609C>T	ENST00000078445.2	+	5	833	c.686C>T	c.(685-687)aCc>aTc	p.T229I	CREB3L3_ENST00000602257.1_Missense_Mutation_p.T227I|CREB3L3_ENST00000252587.3_Missense_Mutation_p.T169I|CREB3L3_ENST00000595923.1_Missense_Mutation_p.T228I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.T229I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	229					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCATCACCCTGCCCACT	0.617																																						uc002lzl.3																			0		p.T229P(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(685-687)aCc>aTc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.							81	63	69					19																	4164609		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4164609C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.686C>T	19.37:g.4164609C>T	ENSP00000078445:p.Thr229Ile					CREB3L3_uc002lzm.3_Missense_Mutation_p.T219I|CREB3L3_uc010xib.2_Missense_Mutation_p.T218I|CREB3L3_uc010xic.2_Missense_Mutation_p.T220I	p.T229I	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	4	802	+			229					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.686C>T	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919895	0.17982	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.75260	-0.92;-0.92	4.99	3.96	0.45880	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.377451	0.29059	N	0.013267	T	0.77003	0.4067	L	0.59436	1.845	0.40443	D	0.980067	P;D;B;B	0.59357	0.923;0.985;0.3;0.199	P;P;B;B	0.52159	0.504;0.691;0.253;0.128	T	0.78478	-0.2188	10	0.52906	T	0.07	-5.1333	12.136	0.53972	0.0:0.9151:0.0:0.0849	.	229;227;228;229	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	I	229;229;169	ENSP00000078445:T229I;ENSP00000252587:T169I	ENSP00000078445:T229I	T	+	2	0	CREB3L3	4115609	0.085000	0.21516	0.916000	0.36221	0.102000	0.19082	0.892000	0.28322	1.098000	0.41479	0.561000	0.74099	ACC		0.617	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		T	4164609	C	T	4164609	3	4	89	1	0	0	0	0	1	0	0	0	3858	507	18	3	704	3	CREB3L3	19	4164609	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		4164609	54964374	61	5972											
DNAJB1	3337	broad.mit.edu	37	chr19	14627500	14627500	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctctttccgtcggggttTagccgcttgtgggagatttt	4	16	13	8	3	1	1	0	0	1	1	3	2	2	1	2	3	2	3	2	3	1	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr19:14627500T>C	ENST00000254322.2	-	2	640	c.570A>G	c.(568-570)ctA>ctG	p.L190L	DNAJB1_ENST00000396969.4_Silent_p.L90L	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	190					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.L190L(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483																																						uc002myz.1																			1	Substitution - coding silent(1)	p.L190L(2)	prostate(1)	NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16						c.(568-570)ctA>ctG		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1), mRNA.							168	167	168					19																	14627500		2203	4300	6503	SO:0001819	synonymous_variant	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627500T>C	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.570A>G	19.37:g.14627500T>C						DNAJB1_uc010xnr.1_Silent_p.L90L	p.L190L	NM_006145	NP_006136	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	1	610	-			190					B4DX52	Silent	SNP	ENST00000254322.2	37	c.570A>G	CCDS12312.1																																																																																				0.483	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		C	14627500	T	C	14627500	2	2	89	1	0	0	0	0	0	0	0	1	4615	1741	61	4		4	DNAJB1	19	14627500	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	10462891	14627500	44501483	62	5973											
NOP56	10528	broad.mit.edu	37	chr20	2633552	2633552	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgctgaaggaagtggAggagatcagtctgctgcagc	9	7	17	8	1	2	2	1	1	1	1	2	5	2	4	0	4	3	4	0	4	2	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:2633552A>T	ENST00000329276.5	+	2	584	c.68A>T	c.(67-69)gAg>gTg	p.E23V	SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	23					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGGAAGTGGAGGAGATCAGT	0.677																																						uc002wgh.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(67-69)gAg>gTg		Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.							24	27	26					20																	2633552		2201	4300	6501	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2633552A>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.68A>T	20.37:g.2633552A>T	ENSP00000370589:p.Glu23Val					NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_5'Flank|SNORD110_uc002wgj.3_5'Flank|SNORA51_uc002wgk.1_5'Flank	p.E23V	NM_006392	NP_006383	O00567	NOP56_HUMAN			1	197	+			23					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.68A>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	A	37	6.133652	0.97310	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.60424	0.19;0.77	5.77	5.77	0.91146	NOP5, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	M	0.91406	3.205	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.84672	0.0712	10	0.87932	D	0	-24.3054	14.0969	0.65029	1.0:0.0:0.0:0.0	.	23	O00567	NOP56_HUMAN	V	23	ENSP00000370589:E23V;ENSP00000388497:E23V	ENSP00000370589:E23V	E	+	2	0	NOP56	2581552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.586000	0.90806	2.210000	0.71456	0.472000	0.43445	GAG		0.677	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		T	2633552	A	T	2633552	3	4	89	1	0	0	0	0	1	0	0	0	10539	304	11	5	74	5	NOP56	20	2633552	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08		2633552	60391968	63	5974											
LBP	3929	broad.mit.edu	37	chr20	36992652	36992652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagagattgacagtttcGccgacattgattatagctta	13	12	8	8	2	0	3	0	2	0	1	1	5	0	3	1	0	2	2	1	0	4	6	rs545550026		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:36992652G>A	ENST00000217407.2	+	7	837	c.676G>A	c.(676-678)Gcc>Acc	p.A226T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	226					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGACAGTTTCGCCGACATTGA	0.562																																						uc002xic.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(676-678)Gcc>Acc		Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.							89	87	88					20																	36992652		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36992652G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.676G>A	20.37:g.36992652G>A	ENSP00000217407:p.Ala226Thr						p.A226T	NM_004139	NP_004130	P18428	LBP_HUMAN			6	711	+		Myeloproliferative disorder(115;0.00878)	226					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.676G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827892	0.32329	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04917	3.53	5.2	-8.58	0.00897	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	2.297420	0.01727	N	0.028620	T	0.03178	0.0093	L	0.31926	0.97	0.09310	N	1	P	0.35656	0.514	B	0.28139	0.086	T	0.41610	-0.9499	10	0.16896	T	0.51	0.425	1.7423	0.02955	0.413:0.0939:0.1379:0.3552	.	226	P18428	LBP_HUMAN	T	226	ENSP00000217407:A226T	ENSP00000217407:A226T	A	+	1	0	LBP	36426066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.631000	0.02026	-1.175000	0.02751	-0.218000	0.12543	GCC		0.562	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		A	36992652	G	A	36992652	3	1	89	1	0	0	0	0	1	0	0	0	8651	1087	38	1	702	1	LBP	20	36992652	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	34359100	36992652	26032868	64	5975											
WFDC9	259240	broad.mit.edu	37	chr20	44237357	44237357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatgtatgatttggacGtacacaagtcattattttag	12	14	9	6	1	1	1	1	1	0	0	1	2	1	2	0	1	2	4	0	1	5	6	rs139643257	byFrequency	TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:44237357G>A	ENST00000326000.1	-	4	401	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	62						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGATTTGGACGTACACAAGTC	0.453													G|||	3	0.000599042	0	0	5008	,	,		20344	0		0.003	False		,,,				2504	0					uc002xoy.3																			0				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6						c.(184-186)Cgt>Tgt		Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.		G	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	248	193	212		184	-7.9	0	20	dbSNP_134	212	42,8558	26.8+/-75.7	0,42,4258	yes	missense	WFDC9	NM_147198.3	180	0,49,6454	AA,AG,GG		0.4884,0.1589,0.3767	possibly-damaging	62/90	44237357	49,12957	2203	4300	6503	SO:0001583	missense	259240					extracellular region		g.chr20:44237357G>A	AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"WAP four-disulfide core domain containing"	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.184C>T	20.37:g.44237357G>A	ENSP00000320532:p.Arg62Cys						p.R62C	NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN			3	402	-		Myeloproliferative disorder(115;0.0122)	62					Q3MIX6|Q5TGZ8	Missense_Mutation	SNP	ENST00000326000.1	37	c.184C>T	CCDS13362.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	11.55	1.672168	0.29693	0.001589	0.004884	ENSG00000180205	ENST00000326000	T	0.31510	1.49	3.94	-7.88	0.01178	.	2.894430	0.01286	N	0.009898	T	0.20251	0.0487	.	.	.	0.09310	N	1	P	0.52692	0.955	B	0.41723	0.365	T	0.42292	-0.9460	9	0.37606	T	0.19	6.5972	6.0654	0.19860	0.3528:0.0:0.1337:0.5134	.	62	Q8NEX5	WFDC9_HUMAN	C	62	ENSP00000320532:R62C	ENSP00000320532:R62C	R	-	1	0	WFDC9	43670771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.804000	0.01738	-2.513000	0.00502	-0.188000	0.12872	CGT		0.453	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106945.1			A	44237357	G	A	44237357	3	1	89	1	0	0	0	0	1	0	0	0	17354	1145	40	1	93	1	WFDC9	20	44237357	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	7244705	44237357	18788163	65	5976											
TP53RK	112858	broad.mit.edu	37	chr20	45315631	45315631	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcacaatgttcagctgttCcagggggggtttcaggagca	9	9	15	8	0	2	0	2	0	0	0	3	2	3	1	1	4	3	6	1	4	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:45315631C>A	ENST00000372102.3	-	0	553				RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase						lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TTCAGCTGTTCCAGGGGGGGT	0.498																																						uc002xsk.3																			0		p.L174fs*23(1)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(523-525)Gaa>Taa		Homo sapiens TP53 regulating kinase (TP53RK), mRNA.							109	110	109					20																	45315631		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112858				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr20:45315631C>A		CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"chromosome 20 open reading frame 64"	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.*162G>T	20.37:g.45315631C>A						SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	p.E175*	NM_033550	NP_291028	Q96S44	PRPK_HUMAN			1	746	-		Myeloproliferative disorder(115;0.0122)	175			Protein kinase.		B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Nonsense_Mutation	SNP	ENST00000372102.3	37	c.523G>T		.	.	.	.	.	.	.	.	.	.	C	29.9	5.045403	0.93685	.	.	ENSG00000172315	ENST00000372114	.	.	.	5.16	5.16	0.70880	.	0.507958	0.23261	N	0.050128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.8912	18.8467	0.92210	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000361186:E175X	E	-	1	0	TP53RK	44749038	0.999000	0.42202	0.045000	0.18777	0.036000	0.12997	4.583000	0.60964	2.664000	0.90586	0.655000	0.94253	GAA		0.498	TP53RK-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000193688.1	NM_033550		A	45315631	C	A	45315631	1	1	89	0	1	0	0	0	0	0	0	0	16387	864	30	5		5	TP53RK	20	45315631	3'UTR	SNP	C	TCGA-06-5412-01A-01D-1696-08	1078274	45315631	17709889	66	5977											
SFRS15	57466	broad.mit.edu	37	chr21	33074598	33074598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactggggctgcattaCtggttcccgctgccatgtcc	4	12	11	14	1	0	0	0	0	0	0	2	0	2	0	3	3	5	5	3	3	2	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr21:33074598C>T	ENST00000286835.7	-	5	798	c.416G>A	c.(415-417)aGt>aAt	p.S139N	SCAF4_ENST00000434667.3_Missense_Mutation_p.S124N|SCAF4_ENST00000399804.1_Missense_Mutation_p.S139N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	139	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCTGCATTACTGGTTCCCGC	0.388																																						uc002ypd.2																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(415-417)aGt>aAt		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.							162	138	146					21																	33074598		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33074598C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.416G>A	21.37:g.33074598C>T	ENSP00000286835:p.Ser139Asn					SCAF4_uc002ype.2_Missense_Mutation_p.S139N|SCAF4_uc010glu.2_Missense_Mutation_p.S124N|SCAF4_uc002ypf.1_5'Flank|SCAF4_uc002ypg.2_Missense_Mutation_p.S139N	p.S139N	NM_020706	NP_065757	O95104	SFR15_HUMAN			4	842	-			139			CID.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.416G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919698	0.52653	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48201	0.86;0.82;0.82	5.51	4.58	0.56647	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (1);	0.241273	0.43579	D	0.000550	T	0.39332	0.1074	N	0.22421	0.69	0.42527	D	0.993027	P;P;P;P	0.43094	0.546;0.799;0.675;0.546	B;B;B;B	0.43658	0.244;0.205;0.426;0.244	T	0.13953	-1.0490	10	0.21014	T	0.42	-17.2752	17.9369	0.89015	0.0:0.8687:0.1313:0.0	.	124;139;139;139	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	N	124;139;139	ENSP00000402377:S124N;ENSP00000286835:S139N;ENSP00000382703:S139N	ENSP00000286835:S139N	S	-	2	0	SCAF4	31996469	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.523000	0.60545	2.582000	0.87167	0.484000	0.47621	AGT		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		T	33074598	C	T	33074598	3	4	89	1	0	0	0	0	1	0	0	0	14171	565	20	3	3091	3	SFRS15	21	33074598	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		33074598	15055297	67	5978											
VCX3B	425054	broad.mit.edu	37	chrX	8433593	8433593	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgacccgaagaagaaGgtgagtgaccctcccaagct	12	5	11	13	1	0	5	0	3	0	2	1	6	1	5	4	1	1	1	4	1	4	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:8433593G>C	ENST00000381032.1	+	2	409	c.102G>C	c.(100-102)aaG>aaC	p.K34N	VCX3B_ENST00000381029.4_Splice_Site_p.K34N|VCX3B_ENST00000444481.1_Splice_Site_p.K34N|VCX3B_ENST00000440654.2_Splice_Site_p.K34N|VCX3B_ENST00000453306.1_Splice_Site_p.K34N	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	34						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CGAAGAAGAAGGTGAGTGACC	0.632																																						uc011mht.2																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.e2+1		Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.							29	16	21					X																	8433593		1240	2108	3348	SO:0001630	splice_region_variant	425054					nucleolus		g.chrX:8433593G>C		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.102+1G>C	X.37:g.8433593G>C						VCX3B_uc004csd.1_Splice_Site_p.K34_splice|VCX3B_uc022bsj.1_5'Flank	p.K34_splice	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN			2	409	+			34					C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.102_splice	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.357087	0.05138	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.27256	1.85;1.68;1.95;1.68;1.93	0.384	0.384	0.16244	.	.	.	.	.	T	0.26122	0.0637	N	0.19112	0.55	0.09310	N	1	D;D	0.54772	0.968;0.968	P;P	0.61874	0.895;0.895	T	0.23868	-1.0176	8	0.21014	T	0.42	.	.	.	.	.	34;34	Q9H321;E7ERZ8	VCX3B_HUMAN;.	N	34	ENSP00000370420:K34N;ENSP00000411785:K34N;ENSP00000414780:K34N;ENSP00000410372:K34N;ENSP00000370417:K34N	ENSP00000370417:K34N	K	+	3	2	VCX3B	8393593	0.977000	0.34250	0.060000	0.19600	0.060000	0.15804	0.112000	0.15479	0.422000	0.26005	0.424000	0.28305	AAG		0.632	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		Missense_Mutation	C	8433593	G	C	8433593	5	2	89	1	0	0	0	0	0	0	1	0	17142	1014	35	5	104	5	VCX3B	23	8433593	Splice_Site	SNP	G	TCGA-06-5412-01A-01D-1696-08		8433593	146836967	68	5979											
USP9X	8239	broad.mit.edu	37	chrX	41075424	41075424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacagacttgtgggtgtGctcgtacacagtggtcaagc	11	10	12	8	1	1	1	1	0	0	1	2	1	1	1	0	2	4	2	0	2	4	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:41075424G>A	ENST00000324545.8	+	35	6237	c.5604G>A	c.(5602-5604)gtG>gtA	p.V1868V	USP9X_ENST00000378308.2_Silent_p.V1868V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1868	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGTGGGTGTGCTCGTACACA	0.448																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5602-5604)gtG>gtA		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							104	110	108					X																	41075424		2195	4297	6492	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075424G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5604G>A	X.37:g.41075424G>A						USP9X_uc004dfc.3_Silent_p.V1868V	p.V1868V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			34	6237	+			1868					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.5604G>A	CCDS43930.1																																																																																				0.448	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41075424	G	A	41075424	2	1	89	1	0	0	0	0	0	0	0	1	17087	1306	46	3		3	USP9X	23	41075424	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	32641831	41075424	114195136	69	5980											
TEX11	56159	broad.mit.edu	37	chrX	69902635	69902635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttccgatgacttaaaacGttcatgaataatcgtcagga	14	13	7	7	3	2	2	2	2	0	0	4	4	3	3	1	1	1	1	1	1	4	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:69902635G>A	ENST00000395889.2	-	15	1245	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	TEX11_ENST00000374333.2_Missense_Mutation_p.R349C|TEX11_ENST00000344304.3_Missense_Mutation_p.R364C|TEX11_ENST00000374320.2_Missense_Mutation_p.R39C	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	364					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GACTTAAAACGTTCATGAATA	0.358																																						uc004dyl.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1090-1092)Cgt>Tgt		Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.							70	59	62					X																	69902635		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69902635G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1090C>T	X.37:g.69902635G>A	ENSP00000379226:p.Arg364Cys					TEX11_uc004dyk.3_Missense_Mutation_p.R39C|TEX11_uc004dym.3_Missense_Mutation_p.R349C	p.R364C	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			14	1252	-	Renal(35;0.156)		364					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1090C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022825	0.19433	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.50001	1.27;1.28;0.76;1.28	4.56	2.76	0.32466	.	0.393945	0.25848	N	0.027905	T	0.44008	0.1273	L	0.38175	1.15	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.54815	0.648;0.761	T	0.22871	-1.0204	9	.	.	.	-2.6515	4.8485	0.13524	0.1134:0.0:0.6774:0.2092	.	349;364	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	C	349;364;39;364	ENSP00000363453:R349C;ENSP00000379226:R364C;ENSP00000363440:R39C;ENSP00000340995:R364C	.	R	-	1	0	TEX11	69819360	0.402000	0.25311	0.166000	0.22797	0.005000	0.04900	1.561000	0.36342	0.368000	0.24481	0.415000	0.27848	CGT		0.358	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69902635	G	A	69902635	3	1	89	1	0	0	0	0	1	0	0	0	15771	1145	40	1	1800	1	TEX11	23	69902635	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	28827211	69902635	85367925	70	5981											
FHL1	2273	broad.mit.edu	37	chrX	135291466	135291466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcccccagtgtgccaCgggaaacgcttgcctctcac	9	6	11	15	2	1	0	1	0	1	0	2	2	1	2	4	2	4	1	4	2	2	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:135291466C>T	ENST00000345434.3	+	6	834	c.753C>T	c.(751-753)caC>caT	p.H251H	FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000394155.2_Silent_p.H251H|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000535737.1_Intron			Q13642	FHL1_HUMAN	four and a half LIM domains 1	251					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAGTGTGCCACGGGAAACGCT	0.552											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004ezo.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(751-753)caC>caT		Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.							58	53	54					X																	135291466		1568	3582	5150	SO:0001819	synonymous_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135291466C>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.753C>T	X.37:g.135291466C>T			OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1617	FHL1_uc010nrz.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc022ceu.1_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	p.H251H	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			6	1082	+	Acute lymphoblastic leukemia(192;0.000127)		251					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Silent	SNP	ENST00000345434.3	37	c.753C>T	CCDS55507.1																																																																																				0.552	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		T	135291466	C	T	135291466	2	4	89	1	0	0	0	0	0	0	0	1	5878	535	19	1		1	FHL1	23	135291466	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	65388831	135291466	19979094	71	5982											
SLITRK2	84631	broad.mit.edu	37	chrX	144905002	144905002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcagagctcagacaaTggtctgaatgtaaactgcca	13	9	8	11	0	3	3	2	1	2	2	4	3	3	3	2	1	3	2	2	1	4	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:144905002T>C	ENST00000370490.1	+	1	5314	c.1059T>C	c.(1057-1059)aaT>aaC	p.N353N	SLITRK2_ENST00000434188.2_Silent_p.N353N|SLITRK2_ENST00000413937.2_Silent_p.N353N|SLITRK2_ENST00000428560.2_Silent_p.N353N|SLITRK2_ENST00000447897.2_Silent_p.N353N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	353	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGACAATGGTCTGAATG	0.493																																						uc022cfn.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(1057-1059)aaT>aaC		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.							68	63	64					X																	144905002		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144905002T>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1059T>C	X.37:g.144905002T>C						SLITRK2_uc004fcd.3_Silent_p.N353N|SLITRK2_uc010nsp.3_Silent_p.N353N|SLITRK2_uc010nso.3_Silent_p.N353N|SLITRK2_uc011mwq.2_Silent_p.N353N|SLITRK2_uc011mwr.2_Silent_p.N353N|SLITRK2_uc011mws.2_Silent_p.N353N|SLITRK2_uc004fcg.3_Silent_p.N353N|SLITRK2_uc011mwt.2_Silent_p.N353N	p.N353N	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	1059	+	Acute lymphoblastic leukemia(192;6.56e-05)		353			LRRNT.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.1059T>C	CCDS14680.1																																																																																				0.493	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		C	144905002	T	C	144905002	2	2	89	1	0	0	0	0	0	0	0	1	14743	1461	51	4		4	SLITRK2	23	144905002	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	9613536	144905002	10365558	72	5983											
PLXNA3	55558	broad.mit.edu	37	chrX	153689599	153689599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagacgctgttggacaCagcgggcgagaaatttttca	11	8	12	10	3	1	2	1	0	0	2	1	4	1	3	1	2	2	3	1	2	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:153689599C>A	ENST00000369682.3	+	3	930	c.755C>A	c.(754-756)aCa>aAa	p.T252K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	252	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTGGACACAGCGGGCGAG	0.567																																						uc004flm.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(754-756)aCa>aAa		Homo sapiens plexin A3 (PLXNA3), mRNA.							107	91	96					X																	153689599		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689599C>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.755C>A	X.37:g.153689599C>A	ENSP00000358696:p.Thr252Lys						p.T252K	NM_017514	NP_059984	P51805	PLXA3_HUMAN			2	928	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		252			Sema.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.755C>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518917	0.64634	.	.	ENSG00000130827	ENST00000369682	T	0.00922	5.54	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.205157	0.42053	D	0.000774	T	0.01523	0.0049	L	0.39898	1.24	0.26149	N	0.980172	B	0.32245	0.361	B	0.35770	0.21	T	0.49399	-0.8944	10	0.44086	T	0.13	.	16.2001	0.82067	0.0:1.0:0.0:0.0	.	252	P51805	PLXA3_HUMAN	K	252	ENSP00000358696:T252K	ENSP00000358696:T252K	T	+	2	0	PLXNA3	153342793	0.969000	0.33509	0.837000	0.33122	0.976000	0.68499	4.800000	0.62524	2.343000	0.79666	0.529000	0.55759	ACA		0.567	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153689599	C	A	153689599	3	1	89	1	0	0	0	0	1	0	0	0	12121	478	17	5	761	5	PLXNA3	23	153689599	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	8784597	153689599	1580961	73	5984											
KIAA1751	85452	broad.mit.edu	37	chr1	1918455	1918455	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaggtcccgcctctgccGacaggcgcgcagctcccctc	5	6	11	19	4	2	0	1	0	1	0	5	2	4	0	5	2	2	2	5	2	0	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:1918455G>A	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCCTCTGCCGACAGGCGCGC	0.632																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(316-318)Cgg>Tgg		Homo sapiens KIAA1751 (KIAA1751), mRNA.							50	61	57					1																	1918455		2028	4192	6220	SO:0001628	intergenic_variant	85452							g.chr1:1918455G>A																													1.37:g.1918455G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	p.R106W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	4	472	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	106						Missense_Mutation	SNP	ENST00000434971.2	37	c.316C>T		.	.	.	.	.	.	.	.	.	.	G	11.22	1.575329	0.28092	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.43	2.5	0.30297	.	0.544063	0.16337	N	0.218889	T	0.54743	0.1877	L	0.60455	1.87	0.24389	N	0.994752	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.958	T	0.38090	-0.9677	9	0.62326	D	0.03	-6.455	7.2566	0.26179	0.1349:0.0:0.8651:0.0	.	106;106	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	W	106	.	ENSP00000270720:R106W	R	-	1	2	C1orf222	1908315	0.986000	0.35501	0.116000	0.21606	0.040000	0.13550	2.557000	0.45871	0.721000	0.32231	0.462000	0.41574	CGG		0.632	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				A	1918455	G	A	1918455	1	1	90	0	1	0	0	0	0	0	0	0	8256	1057	37	2		2	KIAA1751	1	1918455	IGR	SNP	G	TCGA-06-5413-01A-01D-1696-08		1918455	247332166	1	5985											
EIF4G3	8672	broad.mit.edu	37	chr1	21268743	21268743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagatgtctggccttcttGttctttcttctctccactga	4	19	6	12	0	6	2	1	1	5	1	8	2	7	2	2	1	0	1	2	1	0	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:21268743G>C	ENST00000264211.8	-	8	930	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	EIF4G3_ENST00000602326.1_Missense_Mutation_p.Q252E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q252E|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.Q246E|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q246E|EIF4G3_ENST00000356916.3_Missense_Mutation_p.Q257E	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	246					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCTTCTTGTTCTTTCTTC	0.448																																						uc001bec.3																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(736-738)Caa>Gaa		Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.							127	132	131					1																	21268743		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268743G>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.736C>G	1.37:g.21268743G>C	ENSP00000264211:p.Gln246Glu					EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.3_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.3_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.2_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.3_Missense_Mutation_p.Q257E	p.Q246E	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	8	992	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	246					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.736C>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833219	0.32421	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.66	5.66	0.87406	.	0.345327	0.30901	N	0.008653	T	0.12860	0.0312	N	0.19112	0.55	0.38033	D	0.935238	B;B;B;B;B	0.34015	0.204;0.13;0.205;0.009;0.435	B;B;B;B;B	0.29716	0.073;0.016;0.106;0.01;0.054	T	0.04216	-1.0968	10	0.02654	T	1	-1.5884	18.3055	0.90179	0.0:0.0:1.0:0.0	.	246;441;372;252;246	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	E	246;442;246;252;372;246;257	ENSP00000264211:Q246E;ENSP00000383274:Q246E;ENSP00000364073:Q252E;ENSP00000364062:Q246E	ENSP00000264211:Q246E	Q	-	1	0	EIF4G3	21141330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.631000	0.61304	2.832000	0.97577	0.655000	0.94253	CAA		0.448	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		C	21268743	G	C	21268743	3	2	90	1	0	0	0	0	1	0	0	0	5038	1386	48	5	4117	5	EIF4G3	1	21268743	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	19350288	21268743	227981878	2	5986											
RPL5	6125	broad.mit.edu	37	chr1	93298955	93298955	+	Frame_Shift_Del	DEL	A	A	-																															ttttctttaaggggtttgttAaagttgttaagaataaggcc																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:93298955delA	ENST00000370321.3	+	2	103	c.13delA	c.(13-15)aaafs	p.K5fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(13-15)aaafs		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							82	91	88					1																	93298955		2203	4299	6502	SO:0001589	frameshift_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93298955delA	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.13delA	1.37:g.93298955delA	ENSP00000359345:p.Lys5fs					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	p.K5fs	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	1	91	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	5					Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Del	DEL	ENST00000370321.3	37	c.13delA	CCDS741.1																																																																																				0.299	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		-	93298955	A	-	93298955	7	5	90	1	0	1	0	1	0	0	0	0	13597	363	13	0	19	0	RPL5	1	93298955	Frame_Shift_Del	DEL	A	TCGA-06-5413-01A-01D-1696-08	72030212	93298955	155951666	3	5987											
OVGP1	5016	broad.mit.edu	37	chr1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggacagtcaccttttcaCgggccacagccttccttcta	8	10	9	14	1	3	0	2	0	1	0	4	1	4	1	4	3	1	0	4	3	1	5	rs150120731	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:111957411C>T	ENST00000369732.3	-	11	1767	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	571					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527													C|||	2	0.000399361	0	0.0014	5008	,	,		19331	0		0.001	False		,,,				2504	0					uc001eba.3																			0		p.R571S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1711-1713)cGt>cAt		Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.		C	HIS/ARG	0,4406		0,0,2203	105	112	110		1712	-4.8	0	1	dbSNP_134	110	7,8593	5.7+/-21.5	0,7,4293	yes	missense	OVGP1	NM_002557.3	29	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	benign	571/679	111957411	7,12999	2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957411C>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1712G>A	1.37:g.111957411C>T	ENSP00000358747:p.Arg571His					OVGP1_uc001eaz.3_Missense_Mutation_p.R533H|OVGP1_uc010owb.2_Missense_Mutation_p.R219H	p.R571H	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1768	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	571					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1712G>A	CCDS834.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.790	1.177629	0.21787	0.0	8.14E-4	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04275	3.66	4.08	-4.84	0.03151	.	8.718220	0.00357	N	0.000029	T	0.00580	0.0019	N	0.14661	0.345	0.19575	N	0.999964	P;B	0.46277	0.875;0.001	B;B	0.25759	0.063;0.001	T	0.45381	-0.9265	10	0.59425	D	0.04	0.035	0.2829	0.00247	0.3045:0.1398:0.2832:0.2726	.	571;635	Q12889;Q59HH5	OVGP1_HUMAN;.	H	571;635;379	ENSP00000358747:R571H	ENSP00000358743:R635H	R	-	2	0	OVGP1	111758934	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.400000	0.07241	-1.061000	0.03185	-1.696000	0.00724	CGT		0.527	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111957411	C	T	111957411	3	4	90	1	0	0	0	0	1	0	0	0	11325	536	19	1	328	1	OVGP1	1	111957411	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	18658456	111957411	137293210	4	5988											
SH2D1B	117157	broad.mit.edu	37	chr1	162368789	162368789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttattggctttaaaaggTgaaccaccatcccctgattt	10	15	6	10	0	1	2	0	2	1	0	2	2	2	2	4	2	1	1	4	2	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:162368789T>C	ENST00000367929.2	-	3	396	c.287A>G	c.(286-288)cAc>cGc	p.H96R	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	96	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTTAAAAGGTGAACCACCAT	0.423																																						uc001gbz.1																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(286-288)cAc>cGc		Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.							90	85	87					1																	162368789		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368789T>C	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.287A>G	1.37:g.162368789T>C	ENSP00000356906:p.His96Arg					SH2D1B_uc001gca.1_Intron	p.H96R	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	409	-	all_hematologic(112;0.115)		96			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.287A>G	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.378248	0.01204	.	.	ENSG00000198574	ENST00000367929	T	0.39229	1.09	4.77	-0.56	0.11789	SH2 motif (2);	0.677608	0.13270	N	0.400615	T	0.04497	0.0123	N	0.10664	0.02	0.27321	N	0.957044	B	0.11235	0.004	B	0.08055	0.003	T	0.36065	-0.9763	9	0.05833	T	0.94	-46.2956	4.3884	0.11328	0.0:0.1863:0.3295:0.4842	.	96	O14796	SH21B_HUMAN	R	96	ENSP00000356906:H96R	ENSP00000356906:H96R	H	-	2	0	SH2D1B	160635413	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.068000	0.14531	-0.013000	0.14199	-1.212000	0.01626	CAC		0.423	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		C	162368789	T	C	162368789	3	2	90	1	0	0	0	0	1	0	0	0	14231	1696	59	4	119	4	SH2D1B	1	162368789	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	50411378	162368789	86881832	5	5989											
RYR2	6262	broad.mit.edu	37	chr1	237947200	237947200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactacacgcagtcagaaaCggaatttcttttgtcttgtg	10	13	9	9	2	3	1	1	0	2	1	3	2	3	2	0	1	2	2	0	1	3	5			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:237947200C>T	ENST00000366574.2	+	90	12505	c.12188C>T	c.(12187-12189)aCg>aTg	p.T4063M	RYR2_ENST00000542537.1_Missense_Mutation_p.T4047M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T4069M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4063					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4061M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCAGAAACGGAATTTCTT	0.483																																						uc001hyl.1																			1	Substitution - Missense(1)	p.T4061M(1)	large_intestine(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12187-12189)aCg>aTg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							38	37	38					1																	237947200		1982	4154	6136	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947200C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12188C>T	1.37:g.237947200C>T	ENSP00000355533:p.Thr4063Met					RYR2_uc010pya.2_Missense_Mutation_p.T478M	p.T4063M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12308	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4063					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12188C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881609	0.17467	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.82255	-1.59;-1.59;-1.59	5.85	5.85	0.93711	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.70193	0.3196	N	0.00841	-1.15	0.80722	D	1	P;D	0.69078	0.58;0.997	B;P	0.55923	0.182;0.787	T	0.78086	-0.2341	10	0.38643	T	0.18	.	13.3656	0.60682	0.0:0.9283:0.0:0.0717	.	1037;4063	B4DGV4;Q92736	.;RYR2_HUMAN	M	4063;4069;4047;1037	ENSP00000355533:T4063M;ENSP00000353174:T4069M;ENSP00000443798:T4047M	ENSP00000353174:T4069M	T	+	2	0	RYR2	236013823	0.986000	0.35501	0.496000	0.27539	0.107000	0.19398	2.677000	0.46892	2.767000	0.95098	0.655000	0.94253	ACG		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237947200	C	T	237947200	3	4	90	1	0	0	0	0	1	0	0	0	13769	536	19	1	12546	1	RYR2	1	237947200	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	75578411	237947200	11303421	6	5990											
OR2T3	343173	broad.mit.edu	37	chr1	248637275	248637275	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctcatgtacctgtgctgCatcctcatgcttctcgcccc	5	12	7	17	2	3	0	2	0	1	0	5	0	4	0	4	0	4	5	4	0	1	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:248637275C>A	ENST00000359594.2	+	1	649	c.624C>A	c.(622-624)tgC>tgA	p.C208*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGTGCTGCATCCTCATGC	0.532																																						uc001iel.1																			0		p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(622-624)tgC>tgA		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.							214	170	185					1																	248637275		2138	4229	6367	SO:0001587	stop_gained	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637275C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.624C>A	1.37:g.248637275C>A	ENSP00000352604:p.Cys208*						p.C208*	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	624	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		208					B2RNJ1	Nonsense_Mutation	SNP	ENST00000359594.2	37	c.624C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.797042	0.50208	.	.	ENSG00000196539	ENST00000359594	.	.	.	2.37	-4.38	0.03622	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.612	0.17410	0.0:0.6102:0.1728:0.217	.	.	.	.	X	208	.	ENSP00000352604:C208X	C	+	3	2	OR2T3	246703898	0.000000	0.05858	0.021000	0.16686	0.373000	0.29922	-1.749000	0.01824	-0.547000	0.06207	0.186000	0.17326	TGC		0.532	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		A	248637275	C	A	248637275	4	1	90	1	0	0	0	0	0	1	0	0	11023	718	25	5	626	5	OR2T3	1	248637275	Nonsense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	10690075	248637275	613346	7	5991											
APOB	338	broad.mit.edu	37	chr2	21228712	21228712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttgtcatagactggtagGatgatatttttgaggaacct	10	15	10	6	0	2	3	1	2	1	1	2	5	2	5	1	3	1	1	1	3	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:21228712G>A	ENST00000233242.1	-	26	11155	c.11028C>T	c.(11026-11028)atC>atT	p.I3676I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3676					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTGGTAGGATGATATTTT	0.453																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11026-11028)atC>atT		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						100	95	96					2																	21228712		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228712G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11028C>T	2.37:g.21228712G>A							p.I3676I	NM_000384	NP_000375	P04114	APOB_HUMAN			25	11156	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3676					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11028C>T	CCDS1703.1																																																																																				0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21228712	G	A	21228712	2	1	90	1	0	0	0	0	0	0	0	1	785	1164	41	3		3	APOB	2	21228712	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		21228712	221970661	8	5992											
NLRC4	58484	broad.mit.edu	37	chr2	32460481	32460481	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacctacctaaaattctaAtctctgtatctgtgagtctc	10	16	5	10	0	4	1	0	1	4	0	6	1	4	1	2	0	2	2	2	0	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:32460481A>C	ENST00000404025.2	-	9	3259	c.2771T>G	c.(2770-2772)aTt>aGt	p.I924S	NLRC4_ENST00000342905.6_Missense_Mutation_p.I259S|NLRC4_ENST00000360906.5_Missense_Mutation_p.I924S|NLRC4_ENST00000402280.1_Missense_Mutation_p.I924S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	924					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I924T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAAATTCTAATCTCTGTATC	0.428																																						uc002roi.3																			1	Substitution - Missense(1)	p.I924T(1)	breast(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2770-2772)aTt>aGt		Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.							163	160	161					2																	32460481		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32460481A>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2771T>G	2.37:g.32460481A>C	ENSP00000385090:p.Ile924Ser					NLRC4_uc021vfq.1_Missense_Mutation_p.I924S|NLRC4_uc002roj.2_Missense_Mutation_p.I924S|NLRC4_uc010ezt.2_Missense_Mutation_p.I259S	p.I924S	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN			7	3032	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		924					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2771T>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	7.593	0.671219	0.14776	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	4.66	4.66	0.58398	.	0.214340	0.23413	N	0.048453	T	0.44932	0.1317	L	0.27053	0.805	0.36580	D	0.873506	P;P	0.48503	0.911;0.856	P;B	0.46917	0.531;0.247	T	0.62044	-0.6937	9	0.87932	D	0	-4.5577	10.3935	0.44188	1.0:0.0:0.0:0.0	.	259;924	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	S	924;924;259;924	ENSP00000354159:I924S;ENSP00000385428:I924S;ENSP00000339666:I259S;ENSP00000385090:I924S	ENSP00000339666:I259S	I	-	2	0	NLRC4	32313985	0.832000	0.29368	0.155000	0.22561	0.079000	0.17450	2.731000	0.47343	1.953000	0.56701	0.533000	0.62120	ATT		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		C	32460481	A	C	32460481	3	2	90	1	0	0	0	0	1	0	0	0	10469	101	4	5	311	5	NLRC4	2	32460481	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	11231769	32460481	210738892	9	5993											
CEP68	23177	broad.mit.edu	37	chr2	65296848	65296848	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgccaacagagagccCgtagctgagaggtctgagcc	11	6	14	10	1	1	4	0	3	1	2	1	6	1	4	3	1	5	2	3	1	2	1	rs112673076	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:65296848C>A	ENST00000377990.2	+	2	473	c.270C>A	c.(268-270)ccC>ccA	p.P90P	RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000260569.4_Silent_p.P90P|CEP68_ENST00000546106.1_Silent_p.P90P|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	90					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.P90P(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGAGAGCCCGTAGCTGAGA	0.627																																						uc002sdl.4																			1	Substitution - coding silent(1)	p.P90P(2)	lung(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(268-270)ccC>ccA		Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.							45	49	48					2																	65296848		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65296848C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.270C>A	2.37:g.65296848C>A						CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.4_Silent_p.P90P|CEP68_uc010yqc.2_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P	p.P90P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			1	484	+			90					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.270C>A	CCDS1880.2																																																																																				0.627	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		A	65296848	C	A	65296848	2	1	90	1	0	0	0	0	0	0	0	1	3258	639	23	5		5	CEP68	2	65296848	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	32836367	65296848	177902525	10	5994											
FAM123C	205147	broad.mit.edu	37	chr2	131520873	131520873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccaggcactcctgccGccaccttcccacgggacagc	8	4	10	19	2	0	1	0	0	0	1	2	2	2	2	6	2	3	1	6	2	0	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:131520873G>A	ENST00000423981.1	+	2	1338	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	AMER3_ENST00000321420.4_Missense_Mutation_p.A410T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	410					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CACTCCTGCCGCCACCTTCCC	0.617																																						uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1228-1230)Gcc>Acc		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							61	52	55					2																	131520873		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520873G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1228G>A	2.37:g.131520873G>A	ENSP00000392700:p.Ala410Thr					FAM123C_uc002trw.2_Missense_Mutation_p.A410T|FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	p.A410T	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1228	+	Colorectal(110;0.1)		410					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1228G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029596	0.35797	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18502	2.21;2.21	5.2	3.32	0.38043	.	0.374201	0.22971	N	0.053428	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.52646	0.705	T	0.04203	-1.0969	10	0.54805	T	0.06	.	8.915	0.35576	0.0:0.3086:0.5322:0.1592	.	410	Q8N944	F123C_HUMAN	T	410	ENSP00000314914:A410T;ENSP00000392700:A410T	ENSP00000314914:A410T	A	+	1	0	FAM123C	131237343	0.009000	0.17119	0.003000	0.11579	0.178000	0.23041	1.253000	0.32886	0.649000	0.30751	0.561000	0.74099	GCC		0.617	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131520873	G	A	131520873	3	1	90	1	0	0	0	0	1	0	0	0	5424	1087	38	1	1230	1	FAM123C	2	131520873	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	66224025	131520873	111678500	11	5995											
SCN3A	6328	broad.mit.edu	37	chr2	165997260	165997260	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgcatcttcccattTgctggaagccctggcaccat	6	12	10	13	0	1	0	0	0	1	0	2	1	2	1	3	2	4	4	3	2	1	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:165997260T>C	ENST00000360093.3	-	13	2411	c.1920A>G	c.(1918-1920)gcA>gcG	p.A640A	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Silent_p.A640A	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	640					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCCCATTTGCTGGAAGCC	0.542																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1918-1920)gcA>gcG		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						207	162	177					2																	165997260		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997260T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1920A>G	2.37:g.165997260T>C						SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	p.A640A	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			12	2412	-			640					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.1920A>G																																																																																					0.542	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	165997260	T	C	165997260	2	2	90	1	0	0	0	0	0	0	0	1	13918	1799	63	4		4	SCN3A	2	165997260	Silent	SNP	T	TCGA-06-5413-01A-01D-1696-08	34476387	165997260	77202113	12	5996											
TTN	7273	broad.mit.edu	37	chr2	179647077	179647077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtaataaagtaaggcGcggcaggttctccaggccct	9	11	12	9	2	1	0	0	0	1	0	2	0	1	0	2	4	0	5	2	4	4	6	rs528216574		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:179647077G>A	ENST00000591111.1	-	20	3466	c.3242C>T	c.(3241-3243)gCg>gTg	p.A1081V	TTN_ENST00000360870.5_Missense_Mutation_p.A1081V|TTN_ENST00000342175.6_Missense_Mutation_p.A1035V|TTN_ENST00000342992.6_Missense_Mutation_p.A1081V|TTN_ENST00000589042.1_Missense_Mutation_p.A1081V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A1035V|TTN_ENST00000460472.2_Missense_Mutation_p.A1035V			Q8WZ42	TITIN_HUMAN	titin	32621			A -> T (in dbSNP:rs55914517). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTAAGGCGCGGCAGGTTC	0.502													G|||	1	0.000199681	0	0	5008	,	,		16429	0.001		0	False		,,,				2504	0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(3241-3243)gCg>gTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							55	57	56					2																	179647077		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647077G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3242C>T	2.37:g.179647077G>A	ENSP00000465570:p.Ala1081Val					TTN_uc021vsz.1_Missense_Mutation_p.A1035V|TTN_uc021vta.1_Missense_Mutation_p.A1035V|TTN_uc021vtb.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	p.A1081V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		19	3467	-			1081		A -> T (in dbSNP:rs55914517).			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.3242C>T		.	.	.	.	.	.	.	.	.	.	G	14.23	2.473986	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.06;-0.08;-0.08;0.07	5.6	5.6	0.85130	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75162	0.3812	L	0.29908	0.895	0.41576	D	0.98871	D;D;D;D;D	0.89917	0.996;0.996;0.996;0.996;1.0	P;P;P;P;D	0.75020	0.627;0.627;0.627;0.627;0.985	T	0.77432	-0.2590	9	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	1035;1035;1035;1081;1081	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	1081;1035;1035;1035;1035;1081	ENSP00000343764:A1081V;ENSP00000434586:A1035V;ENSP00000340554:A1035V;ENSP00000352154:A1035V;ENSP00000354117:A1081V	ENSP00000340554:A1035V	A	-	2	0	TTN	179355322	1.000000	0.71417	0.484000	0.27391	0.211000	0.24417	6.581000	0.74045	2.808000	0.96608	0.650000	0.86243	GCG		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179647077	G	A	179647077	3	1	90	1	0	0	0	0	1	0	0	0	16732	1087	38	1	108118	1	TTN	2	179647077	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	13649817	179647077	63552296	13	5997											
MARS2	92935	broad.mit.edu	37	chr2	198570303	198570303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacgtgaacgcggcgccGcacatcgggcacctgtactc	7	8	11	15	6	1	1	0	1	1	0	3	1	1	1	2	2	3	3	2	2	3	3	rs561069350		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:198570303G>A	ENST00000282276.6	+	1	217	c.174G>A	c.(172-174)ccG>ccA	p.P58P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	58					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ACGCGGCGCCGCACATCGGGC	0.642																																						uc002uuq.3																			0		p.A57A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(172-174)ccG>ccA		Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Methionine(DB00134)						26	26	26					2																	198570303		2203	4300	6503	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570303G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.174G>A	2.37:g.198570303G>A						BC021693_uc002uup.3_Intron	p.P58P	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			0	276	+			58					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.174G>A	CCDS33358.1																																																																																				0.642	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		A	198570303	G	A	198570303	2	1	90	1	0	0	0	0	0	0	0	1	9317	1074	38	1		1	MARS2	2	198570303	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	18923226	198570303	44629070	14	5998											
HDLBP	3069	broad.mit.edu	37	chr2	242202197	242202197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcctgacaccatgaTggagaggccttggtctttgg	7	12	12	10	0	1	3	0	2	1	1	2	4	2	3	3	4	1	1	3	4	0	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:242202197T>C	ENST00000391975.1	-	5	606	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	HDLBP_ENST00000310931.4_Missense_Mutation_p.I127V|HDLBP_ENST00000391976.2_Missense_Mutation_p.I127V|HDLBP_ENST00000427183.2_Missense_Mutation_p.I163V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	127					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GACACCATGATGGAGAGGCCT	0.512																																						uc002waz.3																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(379-381)Atc>Gtc		Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.							205	175	185					2																	242202197		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242202197T>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.379A>G	2.37:g.242202197T>C	ENSP00000375836:p.Ile127Val					HDLBP_uc002wba.3_Missense_Mutation_p.I127V|HDLBP_uc021vzg.1_Missense_Mutation_p.I163V|HDLBP_uc010fzn.1_Intron|DKFZp686L08115_uc010zoo.1_5'Flank	p.I127V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	4	552	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	127					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.379A>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.06|16.06	3.015192|3.015192	0.54468|0.54468	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092;ENST00000430918	.|T;T;T;T;T;T;T;T;T	.|0.60171	.|2.11;2.11;2.11;2.01;1.33;0.76;0.21;0.75;0.75	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49745|0.49745	0.1575|0.1575	L|L	0.45470|0.45470	1.425|1.425	0.80722|0.80722	D|D	1|1	.|B;P	.|0.40515	.|0.057;0.719	.|B;B	.|0.37091	.|0.074;0.241	T|T	0.46428|0.46428	-0.9192|-0.9192	5|10	.|0.14656	.|T	.|0.56	-25.2698|-25.2698	16.3943|16.3943	0.83563|0.83563	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|163;127	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	R|V	4|127;127;127;163;127;127;127;127;127	.|ENSP00000375836:I127V;ENSP00000375837:I127V;ENSP00000312042:I127V;ENSP00000399139:I163V;ENSP00000403807:I127V;ENSP00000405109:I127V;ENSP00000387782:I127V;ENSP00000416559:I127V;ENSP00000403913:I127V	.|ENSP00000312042:I127V	H|I	-|-	2|1	0|0	HDLBP|HDLBP	241850870|241850870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.975000|7.975000	0.88055|0.88055	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.512	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		C	242202197	T	C	242202197	3	2	90	1	0	0	0	0	1	0	0	0	7025	1464	51	4	3523	4	HDLBP	2	242202197	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	43631894	242202197	997176	15	5999											
SLC6A20	54716	broad.mit.edu	37	chr3	45800488	45800488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggccacggggtctgcGtctcccctcttgaggcgacg	4	9	13	15	4	4	1	1	1	4	0	6	2	4	1	3	4	1	0	3	4	0	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:45800488G>A	ENST00000358525.4	-	11	1876	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_ENST00000353278.4_Silent_p.D550D|SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	587					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577																																						uc011bai.2																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1759-1761)gaC>gaT		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.							35	40	38					3																	45800488		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800488G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1761C>T	3.37:g.45800488G>A						SLC6A20_uc003cow.3_Silent_p.D237D|SLC6A20_uc011baj.2_Silent_p.D550D	p.D587D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	10	1885	-			587					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1761C>T	CCDS43077.1																																																																																				0.577	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		A	45800488	G	A	45800488	2	1	90	1	0	0	0	0	0	0	0	1	14684	1136	40	1		1	SLC6A20	3	45800488	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		45800488	152221942	16	6000											
NISCH	11188	broad.mit.edu	37	chr3	52525480	52525480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacgcacgccctcgccGgagcctgttgacaaggactt	8	7	12	14	4	0	1	0	1	0	0	1	4	0	4	3	3	2	2	3	3	2	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:52525480G>A	ENST00000479054.1	+	21	3927	c.3855G>A	c.(3853-3855)ccG>ccA	p.P1285P	NISCH_ENST00000345716.4_Silent_p.P1285P			Q9Y2I1	NISCH_HUMAN	nischarin	1285					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CGCCCTCGCCGGAGCCTGTTG	0.602																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3853-3855)ccG>ccA		Homo sapiens nischarin (NISCH), mRNA.							69	57	61					3																	52525480		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525480G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3855G>A	3.37:g.52525480G>A						NISCH_uc003dee.4_Silent_p.P774P|NISCH_uc003deg.1_Non-coding_Transcript	p.P1285P	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	19	3989	+			1285					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3855G>A	CCDS33767.1																																																																																				0.602	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		A	52525480	G	A	52525480	2	1	90	1	0	0	0	0	0	0	0	1	10432	1103	39	2		2	NISCH	3	52525480	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	6724992	52525480	145496950	17	6001											
IL17RD	54756	broad.mit.edu	37	chr3	57132318	57132318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcgataaacttgctgagCgccgcggacgaactctgctt	9	8	12	12	6	1	1	0	1	1	0	1	4	1	2	1	2	5	2	1	2	3	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:57132318C>T	ENST00000296318.7	-	12	1501	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	IL17RD_ENST00000320057.5_Silent_p.A327A|IL17RD_ENST00000463523.1_Silent_p.A327A|IL17RD_ENST00000427856.2_Silent_p.A447A	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	471	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A471A(1)|p.A327A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACTTGCTGAGCGCCGCGGACG	0.572																																						uc003dil.3																			2	Substitution - coding silent(2)	p.A471A(1)|p.A327A(1)	endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1411-1413)gcG>gcA		Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.							48	47	47					3																	57132318		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132318C>T	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1413G>A	3.37:g.57132318C>T						IL17RD_uc003dik.3_Silent_p.A447A|IL17RD_uc010hna.3_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	p.A471A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	11	1502	-			471			SEFIR.		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1413G>A	CCDS2880.2																																																																																				0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		T	57132318	C	T	57132318	2	4	90	1	0	0	0	0	0	0	0	1	7642	755	27	1		1	IL17RD	3	57132318	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	4606838	57132318	140890112	18	6002											
CD86	942	broad.mit.edu	37	chr3	121828238	121828238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagaagaagcggcctcGcaactcttataaatgtggtg	14	8	12	7	2	1	3	0	0	1	3	2	4	1	3	1	2	2	1	1	2	8	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:121828238G>A	ENST00000330540.2	+	5	946	c.830G>A	c.(829-831)cGc>cAc	p.R277H	CD86_ENST00000393627.2_Missense_Mutation_p.R271H|CD86_ENST00000493101.1_Missense_Mutation_p.R165H|CD86_ENST00000469710.1_Missense_Mutation_p.R195H|CD86_ENST00000264468.5_Missense_Mutation_p.R64H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	277					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	AAGCGGCCTCGCAACTCTTAT	0.468																																					GBM(67;1379 1389 36064 39806)	uc003eet.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(829-831)cGc>cAc		Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	Abatacept(DB01281)						136	138	138					3																	121828238		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828238G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.830G>A	3.37:g.121828238G>A	ENSP00000332049:p.Arg277His					CD86_uc011bjo.2_Missense_Mutation_p.R195H|CD86_uc011bjp.2_Missense_Mutation_p.R165H|CD86_uc003eeu.3_Missense_Mutation_p.R271H|CD86_uc021xcz.1_Intron	p.R277H	NM_175862	NP_008820	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	958	+			277					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.830G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374053	0.24857	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000264468;ENST00000393627	T;T;T;T;T	0.34472	3.34;2.45;4.45;1.36;4.45	4.45	0.0514	0.14297	.	1.007670	0.07973	N	0.984322	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	P;D	0.54207	0.841;0.965	B;B	0.38156	0.254;0.266	T	0.10989	-1.0606	10	0.56958	D	0.05	9.0E-4	1.4024	0.02273	0.1258:0.1795:0.3578:0.3368	.	165;277	E9PC27;P42081	.;CD86_HUMAN	H	195;165;277;64;271	ENSP00000418988:R195H;ENSP00000420230:R165H;ENSP00000332049:R277H;ENSP00000264468:R64H;ENSP00000377248:R271H	ENSP00000264468:R64H	R	+	2	0	CD86	123310928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.135000	0.10420	0.008000	0.14787	0.561000	0.74099	CGC		0.468	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		A	121828238	G	A	121828238	3	1	90	1	0	0	0	0	1	0	0	0	3043	1087	38	1	848	1	CD86	3	121828238	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	64695920	121828238	76194192	19	6003											
PIK3CA	5290	broad.mit.edu	37	chr3	178916728	178916728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactttagaatgcctccgtGaggctacattaataaccata	13	12	7	9	1	0	3	0	2	0	1	1	3	1	3	3	1	3	1	3	1	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:178916728G>A	ENST00000263967.3	+	2	272	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	39	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E39K(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGCCTCCGTGAGGCTACATT	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		3	Substitution - Missense(3)	p.R38H(8)|p.E39K(5)|p.R38C(2)|p.R38L(1)|p.R38G(1)|p.E39G(1)|p.R38S(1)	endometrium(2)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(115-117)Gag>Aag		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							77	75	75					3																	178916728		1839	4082	5921	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916728G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.115G>A	3.37:g.178916728G>A	ENSP00000263967:p.Glu39Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E39K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	272	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		39			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.115G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275844	0.80580	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	-0.82;-0.82	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	L	0.46157	1.445	0.80722	D	1	P	0.40282	0.711	B	0.41374	0.355	T	0.70439	-0.4871	9	.	.	.	-14.4481	19.2635	0.93977	0.0:0.0:1.0:0.0	.	39	P42336	PK3CA_HUMAN	K	39	ENSP00000263967:E39K;ENSP00000417479:E39K	.	E	+	1	0	PIK3CA	180399422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	GAG		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916728	G	A	178916728	3	1	90	1	0	0	0	0	1	0	0	0	11913	1291	45	3	117	3	PIK3CA	3	178916728	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	57088490	178916728	19105702	20	6004											
SLC4A4	8671	broad.mit.edu	37	chr4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaaccgaggttggttcGttccaccgtttggagaaaac	10	10	11	10	3	0	1	0	0	0	1	3	3	2	1	4	3	2	4	4	3	3	4	rs150967020		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:72399971G>A	ENST00000264485.5	+	18	2425	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.V770I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V770I|SLC4A4_ENST00000340595.3_Missense_Mutation_p.V726I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	770	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.V770I(2)|p.V726I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGGTTGGTTCGTTCCACCGTT	0.423																																						uc010iic.3																			4	Substitution - Missense(4)	p.V770I(2)|p.V726I(2)	urinary_tract(2)|endometrium(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2308-2310)Gtt>Att		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.							77	74	75					4																	72399971		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72399971G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2308G>A	4.37:g.72399971G>A	ENSP00000264485:p.Val770Ile					SLC4A4_uc003hfy.3_Missense_Mutation_p.V770I|SLC4A4_uc010iib.3_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.3_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.4_Missense_Mutation_p.V726I|SLC4A4_uc010iid.3_5'UTR	p.V770I	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		17	2425	+			770			Interaction with CA4.		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2308G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810144	0.16537	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.69	3.06	0.35304	Bicarbonate transporter, C-terminal (1);	0.162294	0.53938	N	0.000048	T	0.55033	0.1895	N	0.17838	0.53	0.52501	D	0.999959	B;P;B;B	0.35774	0.124;0.519;0.208;0.083	B;B;B;B	0.39152	0.104;0.292;0.102;0.104	T	0.51585	-0.8687	10	0.02654	T	1	.	9.5576	0.39348	0.2978:0.0:0.7022:0.0	.	770;770;726;770	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	I	770;770;770;726	ENSP00000264485:V770I;ENSP00000393557:V770I;ENSP00000307349:V770I;ENSP00000344272:V726I	ENSP00000264485:V770I	V	+	1	0	SLC4A4	72618835	1.000000	0.71417	0.907000	0.35723	0.953000	0.61014	3.753000	0.55180	0.348000	0.23949	0.650000	0.86243	GTT		0.423	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72399971	G	A	72399971	3	1	90	1	0	0	0	0	1	0	0	0	14656	1145	40	1	2495	1	SLC4A4	4	72399971	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		72399971	118754305	21	6005											
PPEF2	5470	broad.mit.edu	37	chr4	76797822	76797822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgcacctcatggtggaaActatctaaacacgtccagaa	13	11	7	10	1	2	1	1	0	1	1	3	2	3	2	2	2	3	1	2	2	5	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:76797822A>G	ENST00000286719.7	-	11	1294	c.938T>C	c.(937-939)gTt>gCt	p.V313A		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	313	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATGGTGGAAACTATCTAAAC	0.502																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(937-939)gTt>gCt		Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.							81	83	82					4																	76797822		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797822A>G	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.938T>C	4.37:g.76797822A>G	ENSP00000286719:p.Val313Ala					PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V313A	p.V313A	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		10	1295	-			313			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.938T>C	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	0.308	-0.969809	0.02232	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05717	3.4	4.49	3.31	0.37934	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	11.178900	0.00166	N	0.000002	T	0.08935	0.0221	L	0.53249	1.67	0.33818	D	0.62869	B;B	0.24618	0.107;0.004	B;B	0.21917	0.037;0.012	T	0.37731	-0.9693	10	0.20519	T	0.43	-19.2346	5.8017	0.18417	0.7914:0.0:0.2086:0.0	.	313;313	O14830-2;O14830	.;PPE2_HUMAN	A	313	ENSP00000286719:V313A	ENSP00000286719:V313A	V	-	2	0	PPEF2	77016846	0.975000	0.34042	0.936000	0.37596	0.006000	0.05464	4.821000	0.62679	0.780000	0.33566	-0.415000	0.06103	GTT		0.502	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		G	76797822	A	G	76797822	3	3	90	1	0	0	0	0	1	0	0	0	12308	43	2	4	1351	4	PPEF2	4	76797822	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	4397851	76797822	114356454	22	6006											
MAPK10	5602	broad.mit.edu	37	chr4	87028499	87028499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaggacagcatcataCgcggcactgtagagatccaa	13	7	10	11	2	2	1	2	0	0	1	3	3	3	2	1	2	2	3	1	2	4	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:87028499C>T	ENST00000359221.3	-	5	769	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000395157.3_5'Flank|MAPK10_ENST00000361569.2_Silent_p.A81A|MAPK10_ENST00000395166.1_Silent_p.A43A|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Silent_p.A81A|MAPK10_ENST00000395169.3_Silent_p.A43A|MAPK10_ENST00000513839.1_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGCATCATACGCGGCACTGT	0.443																																						uc003hps.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(241-243)gcG>gcA		Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.							107	99	102					4																	87028499		2203	4300	6503	SO:0001819	synonymous_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028499C>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.243G>A	4.37:g.87028499C>T						MAPK10_uc010ikg.3_Silent_p.A43A|MAPK10_uc003hpr.3_Silent_p.A43A|MAPK10_uc003hpt.3_Silent_p.A81A|MAPK10_uc003hpu.3_Silent_p.A81A|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	p.A81A	NM_138982	NP_620446	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	4	929	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	81			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	c.243G>A	CCDS34026.1																																																																																				0.443	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			T	87028499	C	T	87028499	2	4	90	1	0	0	0	0	0	0	0	1	9272	523	19	1		1	MAPK10	4	87028499	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	10230677	87028499	104125777	23	6007											
BBS12	166379	broad.mit.edu	37	chr4	123665161	123665161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataaattcacaggaattaaCgggctttctatttttgtagt	12	16	8	5	1	2	0	1	0	1	0	2	2	2	1	0	2	1	2	0	2	6	8	rs372102223		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:123665161C>T	ENST00000314218.3	+	2	2307	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	BBS12_ENST00000542236.1_Missense_Mutation_p.T705M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	705					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGGAATTAACGGGCTTTCTA	0.348									Bardet-Biedl syndrome																													uc021xrm.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(2113-2115)aCg>aTg		Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.		C	MET/THR,MET/THR	1,4405		0,1,2202	69	75	73		2114,2114	0.1	0	4		73	2,8594		0,2,4296	no	missense,missense	BBS12	NM_001178007.1,NM_152618.2	81,81	0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	705/711,705/711	123665161	3,12999	2203	4298	6501	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123665161C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2114C>T	4.37:g.123665161C>T	ENSP00000319062:p.Thr705Met					BBS12_uc003ieu.3_Missense_Mutation_p.T705M|BBS12_uc021xrn.1_Missense_Mutation_p.T705M	p.T705M	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN			2	2495	+			705					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.2114C>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	6.606	0.480200	0.12581	2.27E-4	2.33E-4	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69926	-0.44;-0.44	5.63	0.104	0.14531	.	0.946420	0.08922	N	0.874251	T	0.35970	0.0950	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.31547	0.132	T	0.32771	-0.9894	10	0.62326	D	0.03	-28.2915	1.6074	0.02687	0.4993:0.1397:0.2298:0.1313	.	705	Q6ZW61	BBS12_HUMAN	M	705	ENSP00000319062:T705M;ENSP00000438273:T705M	ENSP00000319062:T705M	T	+	2	0	BBS12	123884611	0.848000	0.29623	0.008000	0.14137	0.181000	0.23173	0.455000	0.21843	0.428000	0.26173	-0.266000	0.10368	ACG		0.348	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		T	123665161	C	T	123665161	3	4	90	1	0	0	0	0	1	0	0	0	1337	536	19	1	2116	1	BBS12	4	123665161	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	36636662	123665161	67489115	24	6008											
PLK4	10733	broad.mit.edu	37	chr4	128807278	128807278	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttcgtagaaatccagcAgatcgtttaagtctgtcttc	10	15	7	9	2	2	2	0	0	2	2	6	2	3	2	1	0	2	3	1	0	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:128807278A>T	ENST00000270861.5	+	5	1027	c.753A>T	c.(751-753)gcA>gcT	p.A251A	PLK4_ENST00000513090.1_Silent_p.A219A|PLK4_ENST00000514379.1_Silent_p.A210A|PLK4_ENST00000507249.1_Silent_p.A251A|PLK4_ENST00000515069.1_Silent_p.A251A	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATCCAGCAGATCGTTTAA	0.353																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(751-753)gcA>gcT		Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.							160	165	163					4																	128807278		2201	4300	6501	SO:0001819	synonymous_variant	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807278A>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.753A>T	4.37:g.128807278A>T						PLK4_uc011cgs.2_Silent_p.A219A|PLK4_uc011cgt.2_Silent_p.A210A	p.A251A	NM_014264	NP_001177730	O00444	PLK4_HUMAN			4	1027	+			251			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.753A>T	CCDS3735.1																																																																																				0.353	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			T	128807278	A	T	128807278	2	4	90	1	0	0	0	0	0	0	0	1	12098	175	7	5		5	PLK4	4	128807278	Silent	SNP	A	TCGA-06-5413-01A-01D-1696-08	5142117	128807278	62346998	25	6009											
NEK1	4750	broad.mit.edu	37	chr4	170398275	170398275	+	Splice_Site	DEL	T	T	-																															taatatactactatacatacTttcagttgtagagaaggatg																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:170398275delT	ENST00000439128.2	-	24	2990	c.2350delA	c.(2350-2352)aga>ga	p.R784fs	NEK1_ENST00000510533.1_Splice_Site_p.R740fs|NEK1_ENST00000511633.1_Splice_Site_p.R768fs|NEK1_ENST00000512193.1_Splice_Site_p.R715fs|NEK1_ENST00000507142.1_Splice_Site_p.R812fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	784					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTATACATACTTTCAGTTGTA	0.343																																						uc003isd.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.e26+1		Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.							44	40	41					4																	170398275		1838	4085	5923	SO:0001630	splice_region_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170398275delT	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2350+1A>-	4.37:g.170398275delT						NEK1_uc003ise.2_Splice_Site_p.R768_splice|NEK1_uc003isb.2_Splice_Site_p.R784_splice|NEK1_uc003isc.2_Splice_Site_p.R740_splice|NEK1_uc003isf.2_Splice_Site_p.R715_splice	p.R812_splice	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	26	3012	-		Prostate(90;0.00601)|Renal(120;0.0183)	784					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Frame_Shift_Del	DEL	ENST00000439128.2	37	c.2434_splice	CCDS47162.1																																																																																				0.343	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		Frame_Shift_Del	-	170398275	T	-	170398275	8	5	90	1	0	1	0	1	0	0	1	0	10321	1623	56	0	1470	0	NEK1	4	170398275	Splice_Site	DEL	T	TCGA-06-5413-01A-01D-1696-08	41590997	170398275	20756001	26	6010											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549384	33549384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcaatgggggaggaatGccggccaggaactggcagtg	10	6	17	8	1	1	0	1	0	0	0	1	3	1	3	2	6	3	2	2	6	3	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:33549384G>A	ENST00000504830.1	-	21	4565	c.4230C>T	c.(4228-4230)ggC>ggT	p.G1410G	ADAMTS12_ENST00000352040.3_Silent_p.G1325G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1410	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGGAATGCCGGCCAGGA	0.612										HNSCC(64;0.19)																												uc003jia.1																			0		p.A1409A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4228-4230)ggC>ggT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							71	74	73					5																	33549384		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549384G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4230C>T	5.37:g.33549384G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.G1325G	p.G1410G	NM_030955	NP_112217	P58397	ATS12_HUMAN			20	4393	-			1410			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4230C>T	CCDS34140.1																																																																																				0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33549384	G	A	33549384	2	1	90	1	0	0	0	0	0	0	0	1	257	1306	46	3		3	ADAMTS12	5	33549384	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		33549384	147365876	27	6011											
IL3	3562	broad.mit.edu	37	chr5	131396547	131396547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacacacttaaagcagccaCctttgcctttgctggtgagt	10	12	8	11	0	0	1	0	1	0	0	0	1	0	1	3	1	5	2	3	1	3	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:131396547C>T	ENST00000296870.2	+	1	326	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	50					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAAGCAGCCACCTTTGCCTTT	0.522																																						uc003kwe.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10						c.(148-150)Cct>Tct		Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	Amlexanox(DB01025)						87	89	88					5																	131396547		2203	4300	6503	SO:0001583	missense	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131396547C>T	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.148C>T	5.37:g.131396547C>T	ENSP00000296870:p.Pro50Ser						p.P50S	NM_000588	NP_000579	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	0	201	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	50					Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	c.148C>T	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469619	0.26423	.	.	ENSG00000164399	ENST00000296870	T	0.68903	-0.36	3.1	-6.21	0.02065	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.029340	0.02008	N	0.046769	T	0.57725	0.2073	L	0.58101	1.795	0.09310	N	1	B	0.26363	0.147	B	0.23150	0.044	T	0.44221	-0.9342	10	0.72032	D	0.01	0.0282	4.0624	0.09844	0.5531:0.1388:0.22:0.0882	.	50	P08700	IL3_HUMAN	S	50	ENSP00000296870:P50S	ENSP00000296870:P50S	P	+	1	0	IL3	131424446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.927000	0.01561	-2.389000	0.00587	-0.894000	0.02916	CCT		0.522	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		T	131396547	C	T	131396547	3	4	90	1	0	0	0	0	1	0	0	0	7689	507	18	3	150	3	IL3	5	131396547	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	97847163	131396547	49518713	28	6012											
FAT2	2196	broad.mit.edu	37	chr5	150947262	150947262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggtgatcaacccagttcGagcattaagtttaaatccta	12	12	9	8	1	1	1	1	1	0	0	3	2	2	1	2	2	2	3	2	2	5	5			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:150947262G>A	ENST00000261800.5	-	1	1243	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCCAGTTCGAGCATTAAGT	0.532																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1231-1233)Cga>Tga		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							99	94	95					5																	150947262		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947262G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1231C>T	5.37:g.150947262G>A	ENSP00000261800:p.Arg411*					FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	p.R411*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	1244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	411			Cadherin 3.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.1231C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997902	0.97184	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.59	5.59	0.84812	.	0.430470	0.22979	N	0.053331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	9.6654	0.39981	0.0724:0.0:0.7873:0.1403	.	.	.	.	X	411	.	ENSP00000261800:R411X	R	-	1	2	FAT2	150927455	1.000000	0.71417	0.402000	0.26371	0.888000	0.51559	3.261000	0.51530	2.642000	0.89623	0.561000	0.74099	CGA		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150947262	G	A	150947262	4	1	90	1	0	0	0	0	0	1	0	0	5690	1066	37	2	11910	2	FAT2	5	150947262	Nonsense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	19550715	150947262	29967998	29	6013											
BRPF3	27154	broad.mit.edu	37	chr6	36185728	36185728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggaaaacacaccgaaagCgggtctgactctgaatgtag	13	9	11	8	2	2	2	0	2	2	0	2	4	2	3	1	2	2	1	1	2	5	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:36185728C>T	ENST00000357641.6	+	9	3277	c.3024C>T	c.(3022-3024)agC>agT	p.S1008S	BRPF3_ENST00000534400.1_Silent_p.S1008S|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Silent_p.S738S|BRPF3_ENST00000339717.7_Silent_p.S738S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1008					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACACCGAAAGCGGGTCTGACT	0.512																																						uc003olv.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(3022-3024)agC>agT		Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.							178	145	156					6																	36185728		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36185728C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3024C>T	6.37:g.36185728C>T						BRPF3_uc010jwb.3_Silent_p.S738S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_5'UTR	p.S1008S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			8	3248	+			1008					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.3024C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401285	0.25291	.	.	ENSG00000096070	ENST00000394572	.	.	.	6.05	-1.82	0.07857	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66917	-0.5802	5	0.66056	D	0.02	.	12.327	0.55018	0.0:0.3472:0.0:0.6528	.	.	.	.	W	422	.	ENSP00000378073:R422W	R	+	1	2	BRPF3	36293706	0.521000	0.26258	0.989000	0.46669	0.992000	0.81027	-0.312000	0.08113	-0.237000	0.09739	-0.145000	0.13849	CGG		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		T	36185728	C	T	36185728	2	4	90	1	0	0	0	0	0	0	0	1	1521	767	27	1		1	BRPF3	6	36185728	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08		36185728	134929339	30	6014											
LGSN	51557	broad.mit.edu	37	chr6	63990385	63990385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaacagaaggcgccatcagGcagctgagcgcagcagagtg	12	4	14	11	2	1	3	1	1	0	2	1	3	1	3	1	2	4	4	1	2	2	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:63990385G>A	ENST00000370657.4	-	4	1104	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	357					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCGCCATCAGGCAGCTGAGCG	0.498																																						uc003peh.3																			0		p.C357S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1069-1071)tgC>tgT		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						119	119	119					6																	63990385		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990385G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1071C>T	6.37:g.63990385G>A						LGSN_uc003pei.3_3'UTR	p.C357C	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	1105	-			357					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.1071C>T	CCDS4964.1																																																																																				0.498	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		A	63990385	G	A	63990385	2	1	90	1	0	0	0	0	0	0	0	1	8759	1195	42	3		3	LGSN	6	63990385	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	27804657	63990385	107124682	31	6015											
PPIL6	285755	broad.mit.edu	37	chr6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaatcctcagtgagtgCgtcataaagtgcagagggtt	13	9	13	6	1	2	2	2	1	0	1	3	3	3	3	1	2	2	2	1	2	4	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:109752404C>T	ENST00000521072.2	-	3	956	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_ENST00000524031.1_5'UTR|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.A126T|PPIL6_ENST00000424445.2_Missense_Mutation_p.A94T	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	126					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393																																						uc010kdp.3																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(376-378)Gca>Aca		Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.							110	112	111					6																	109752404		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109752404C>T		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.376G>A	6.37:g.109752404C>T	ENSP00000427929:p.Ala126Thr					PPIL6_uc003ptg.4_Missense_Mutation_p.A126T|PPIL6_uc021zdq.1_Non-coding_Transcript	p.A126T	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	957	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	126					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.376G>A	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.036105|4.036105	0.75617|0.75617	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.31247|.	2.08;2.06;2.07;1.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71879|0.71879	0.3392|0.3392	M|M	0.77820|0.77820	2.39|2.39	0.54753|0.54753	D|D	0.999987|0.999987	D;D;D|.	0.63880|.	0.987;0.993;0.987|.	P;P;P|.	0.46320|.	0.512;0.512;0.512|.	T|T	0.72839|0.72839	-0.4171|-0.4171	10|5	0.59425|.	D|.	0.04|.	-15.54|-15.54	17.6308|17.6308	0.88106|0.88106	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	126;94;126|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	T|H	94;126;126;83|65;73	ENSP00000407731:A94T;ENSP00000392257:A126T;ENSP00000427929:A126T;ENSP00000411731:A83T|.	ENSP00000411731:A83T|.	A|R	-|-	1|2	0|0	PPIL6|PPIL6	109859097|109859097	0.998000|0.998000	0.40836|0.40836	0.106000|0.106000	0.21319|0.21319	0.012000|0.012000	0.07955|0.07955	4.021000|4.021000	0.57196|0.57196	2.441000|2.441000	0.82636|0.82636	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.393	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			T	109752404	C	T	109752404	3	4	90	1	0	0	0	0	1	0	0	0	12331	768	27	1	665	1	PPIL6	6	109752404	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	45762019	109752404	61362663	32	6016											
DAGLB	221955	broad.mit.edu	37	chr7	6476110	6476110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaaaacagcgccaggCggatgtaaagcagcttagac	15	5	12	9	2	0	1	0	0	0	1	0	3	0	3	1	3	4	3	1	3	6	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:6476110C>A	ENST00000297056.6	-	3	471	c.302G>T	c.(301-303)cGc>cTc	p.R101L	DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000425398.2_Missense_Mutation_p.R101L|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000436575.1_Missense_Mutation_p.R60L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	101					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGCCAGGCGGATGTAAAG	0.522																																						uc003sqa.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(301-303)cGc>cTc		Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.							87	92	90					7																	6476110		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6476110C>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.302G>T	7.37:g.6476110C>A	ENSP00000297056:p.Arg101Leu					DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Missense_Mutation_p.R101L|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	p.R101L	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	2	472	-		Ovarian(82;0.232)	101					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.302G>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704041	0.68615	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.56611	0.66;0.45;0.62	5.87	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.956;0.996	T	0.76449	-0.2955	10	0.36615	T	0.2	-13.0242	15.2995	0.73936	0.0:0.9331:0.0:0.0669	.	101;101	B4DQU0;Q8NCG7	.;DGLB_HUMAN	L	101;101;60;101;101	ENSP00000297056:R101L;ENSP00000391171:R101L;ENSP00000404785:R60L	ENSP00000297056:R101L	R	-	2	0	DAGLB	6442635	1.000000	0.71417	0.614000	0.29051	0.587000	0.36485	7.175000	0.77632	1.635000	0.50512	0.655000	0.94253	CGC		0.522	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		A	6476110	C	A	6476110	3	1	90	1	0	0	0	0	1	0	0	0	4227	768	27	5	1768	5	DAGLB	7	6476110	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		6476110	152662553	33	6017											
FAM188B	84182	broad.mit.edu	37	chr7	30915152	30915152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaaagctgtgtccaacGttttcaacgatgtggttgag	9	12	13	7	2	1	1	1	1	0	0	2	3	2	2	1	2	3	3	1	2	3	3	rs370655350		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:30915152G>A	ENST00000265299.6	+	15	1929	c.1852G>A	c.(1852-1854)Gtt>Att	p.V618I	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.V81I	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	618										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGTCCAACGTTTTCAACGA	0.463																																						uc003tbt.3																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1852-1854)Gtt>Att		Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.		G	ILE/VAL	1,4013		0,1,2006	285	283	284		1852	4.8	1	7		284	0,8354		0,0,4177	no	missense	FAM188B	NM_032222.2	29	0,1,6183	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	618/758	30915152	1,12367	2007	4177	6184	SO:0001583	missense	84182							g.chr7:30915152G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1852G>A	7.37:g.30915152G>A	ENSP00000265299:p.Val618Ile					FAM188B_uc010kwe.3_Missense_Mutation_p.V589I|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.V138I	p.V618I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			14	1929	+			618					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1852G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034689	0.75617	2.49E-4	0.0	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.36878	1.23;1.23	5.67	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.985;0.995	T	0.69034	-0.5252	10	0.87932	D	0	-7.6233	12.526	0.56087	0.0809:0.0:0.9191:0.0	.	138;618	B8ZZX1;Q4G0A6	.;F188B_HUMAN	I	618;138;81	ENSP00000265299:V618I;ENSP00000421315:V81I	ENSP00000265299:V618I	V	+	1	0	RP5-877J2.1;FAM188B	30881677	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	7.392000	0.79840	1.417000	0.47077	0.650000	0.86243	GTT		0.463	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		A	30915152	G	A	30915152	3	1	90	1	0	0	0	0	1	0	0	0	5515	1145	40	1	1910	1	FAM188B	7	30915152	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	24439042	30915152	128223511	34	6018											
EGFR	1956	broad.mit.edu	37	chr7	55259469	55259469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgacctggcagccaggaacGtactggtgaaaacaccgcag	12	4	13	12	3	0	1	0	1	0	0	0	3	0	2	3	3	4	3	3	3	4	1	rs146795390		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:55259469G>C	ENST00000275493.2	+	21	2704	c.2527G>C	c.(2527-2529)Gta>Cta	p.V843L	EGFR_ENST00000454757.2_Missense_Mutation_p.V790L|EGFR_ENST00000455089.1_Missense_Mutation_p.V798L|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.V843I(3)|p.V843L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCCAGGAACGTACTGGTGAA	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.V843I(11)|p.V843L(2)|p.N842D(2)|p.N842H(1)	lung(2)|upper_aerodigestive_tract(1)|biliary_tract(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	GRCh37	CM082606	EGFR	M	rs146795390	c.(2527-2529)Gta>Cta		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						120	105	110					7																	55259469		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259469G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2527G>C	7.37:g.55259469G>C	ENSP00000275493:p.Val843Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.V843L|EGFR_uc010kzg.2_Missense_Mutation_p.V798L|EGFR_uc022adn.1_Missense_Mutation_p.V798L|EGFR_uc011kco.2_Missense_Mutation_p.V790L|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Missense_Mutation_p.V78L	p.V843L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2773	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		843			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2527G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113766	0.94339	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62639	0.01;0.01;0.01	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	L	0.56280	1.765	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.75020	0.828;0.985	T	0.77370	-0.2613	10	0.87932	D	0	.	18.6604	0.91470	0.0:0.0:1.0:0.0	.	798;843	Q504U8;P00533	.;EGFR_HUMAN	L	798;713;843;790	ENSP00000415559:V798L;ENSP00000275493:V843L;ENSP00000395243:V790L	ENSP00000275493:V843L	V	+	1	0	EGFR	55226963	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	9.704000	0.98716	2.751000	0.94390	0.650000	0.86243	GTA		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55259469	G	C	55259469	3	2	90	1	0	0	0	0	1	0	0	0	4967	1145	40	5	2873	5	EGFR	7	55259469	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	24344317	55259469	103879194	35	6019											
SERPINE1	5054	broad.mit.edu	37	chr7	100771685	100771685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctctaggatgcagatgtCtccagccctcacctgcctag	7	11	9	14	0	3	1	1	0	2	1	4	2	3	2	4	1	4	2	4	1	2	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:100771685C>G	ENST00000223095.4	+	2	168	c.11C>G	c.(10-12)tCt>tGt	p.S4C	SERPINE1_ENST00000445463.2_Missense_Mutation_p.S4C	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	4					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGCAGATGTCTCCAGCCCTC	0.622																																						uc003uxt.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(10-12)tCt>tGt		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						119	93	102					7																	100771685		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100771685C>G	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.11C>G	7.37:g.100771685C>G	ENSP00000223095:p.Ser4Cys					SERPINE1_uc011kkj.2_Missense_Mutation_p.S4C	p.S4C	NM_000602	NP_000593	P05121	PAI1_HUMAN			1	159	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.11C>G	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330178	0.41297	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.86627	-1.92;-2.15	5.27	3.36	0.38483	Serpin domain (1);	0.583371	0.16635	N	0.205884	T	0.81531	0.4842	N	0.08118	0	0.09310	N	1	B;D	0.62365	0.005;0.991	B;P	0.52710	0.005;0.707	T	0.74396	-0.3679	10	0.87932	D	0	.	11.9805	0.53117	0.0:0.6635:0.3365:0.0	.	4;4	F8WD53;P05121	.;PAI1_HUMAN	C	4	ENSP00000223095:S4C;ENSP00000396766:S4C	ENSP00000223095:S4C	S	+	2	0	SERPINE1	100558405	0.006000	0.16342	0.043000	0.18650	0.542000	0.35054	1.650000	0.37292	0.633000	0.30452	0.655000	0.94253	TCT		0.622	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		G	100771685	C	G	100771685	3	3	90	1	0	0	0	0	1	0	0	0	14111	913	32	5	13	5	SERPINE1	7	100771685	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	45512216	100771685	58366978	36	6020											
OR2A1	346528	broad.mit.edu	37	chr7	144015519	144015519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgcatgacgcagacctTtctctgtttgagttttggac	6	15	11	9	1	1	3	0	2	1	1	2	4	1	4	1	2	1	5	1	2	0	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:144015519T>G	ENST00000408951.1	+	1	302	c.302T>G	c.(301-303)tTt>tGt	p.F101C	OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ACGCAGACCTTTCTCTGTTTG	0.572																																						uc011kud.2																			0				large_intestine(1)|lung(3)|skin(2)	6						c.(301-303)tTt>tGt		Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.							164	189	181					7																	144015519		2202	4298	6500	SO:0001583	missense	346528				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:144015519T>G		CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.302T>G	7.37:g.144015519T>G	ENSP00000386175:p.Phe101Cys					OR2A9P_uc003wec.1_Intron	p.F101C	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN			0	302	+	Melanoma(164;0.14)		101					Q6IF44|Q96R46	Missense_Mutation	SNP	ENST00000408951.1	37	c.302T>G	CCDS43673.1	.	.	.	.	.	.	.	.	.	.	t	4.828	0.153946	0.09185	.	.	ENSG00000221970	ENST00000408951	T	0.00408	7.54	2.96	1.7	0.24286	.	.	.	.	.	T	0.00440	0.0014	L	0.52266	1.64	0.09310	N	1	.	.	.	.	.	.	T	0.46400	-0.9194	7	0.72032	D	0.01	.	5.5367	0.17016	0.4801:0.0:0.0:0.5199	.	.	.	.	C	101	ENSP00000386175:F101C	ENSP00000386175:F101C	F	+	2	0	OR2A1	143646452	0.000000	0.05858	0.254000	0.24359	0.006000	0.05464	-0.202000	0.09451	0.295000	0.22570	0.402000	0.26972	TTT		0.572	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1			G	144015519	T	G	144015519	3	3	90	1	0	0	0	0	1	0	0	0	10974	1841	64	5	304	5	OR2A1	7	144015519	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	43243834	144015519	15123144	37	6021											
SSPO	23145	broad.mit.edu	37	chr7	149493793	149493793	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgcgaggatggctcGgatgaggagggctgtgtgtt	6	10	19	6	2	0	1	0	1	0	0	1	6	0	5	0	6	1	3	0	6	0	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:149493793G>A	ENST00000378016.2	+	0	6789							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGATGAGGAGG	0.652																																						uc010lpk.3																			0											c.(6778-6780)tcG>tcA		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							108	113	111					7																	149493793		2161	4254	6415			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493793G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493793G>A							p.S2260S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		44	6780	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2263			LDL-receptor class A 8.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.6780G>A																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149493793	G	A	149493793	1	1	90	0	1	0	0	0	0	0	0	0	15188	1103	39	2		2	SSPO	7	149493793	RNA	SNP	G	TCGA-06-5413-01A-01D-1696-08	5478274	149493793	9644870	38	6022											
UBE3C	9690	broad.mit.edu	37	chr7	157046788	157046788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccagggccttgccaaTgtcgtcagcctcgagtggct	5	10	12	14	3	1	0	1	0	0	0	4	1	2	0	5	2	2	1	5	2	1	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:157046788T>C	ENST00000348165.5	+	20	3195	c.2835T>C	c.(2833-2835)aaT>aaC	p.N945N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	945	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCTTGCCAATGTCGTCAGCC	0.562																																						uc010lqs.3																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2833-2835)aaT>aaC		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							55	53	54					7																	157046788		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157046788T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2835T>C	7.37:g.157046788T>C						UBE3C_uc003wni.4_Silent_p.N308N	p.N945N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	3147	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	945			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.2835T>C	CCDS34789.1																																																																																				0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		C	157046788	T	C	157046788	2	2	90	1	0	0	0	0	0	0	0	1	16878	1461	51	4		4	UBE3C	7	157046788	Silent	SNP	T	TCGA-06-5413-01A-01D-1696-08	7552995	157046788	2091875	39	6023											
GCNT1	2650	broad.mit.edu	37	chr9	79118132	79118132	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatgcttcctccactcGaaacacctctcttttctggc	9	13	4	15	1	3	0	1	0	2	0	7	1	5	0	3	1	2	1	3	1	3	3	rs656106		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:79118132G>T	ENST00000376730.4	+	4	1318	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	GCNT1_ENST00000444201.2_Nonsense_Mutation_p.E279*|GCNT1_ENST00000536223.1_Nonsense_Mutation_p.E279*|GCNT1_ENST00000442371.1_Nonsense_Mutation_p.E279*	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	279	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TCCTCCACTCGAAACACCTCT	0.463																																						uc022bif.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(835-837)Gaa>Taa		Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.							120	97	105					9																	79118132		2203	4300	6503	SO:0001587	stop_gained	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118132G>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.835G>T	9.37:g.79118132G>T	ENSP00000365920:p.Glu279*					GCNT1_uc010mpf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpg.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.4_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.4_Nonsense_Mutation_p.E279*	p.E279*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			0	835	+			279			Catalytic (By similarity).		Q6DJZ4	Nonsense_Mutation	SNP	ENST00000376730.4	37	c.835G>T	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.306135	0.60305	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	.	.	.	6.17	2.02	0.26589	.	0.575870	0.20111	N	0.099008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0228	0.14370	0.3205:0.3067:0.3728:0.0	rs656106;rs52811980;rs656106	.	.	.	X	279	.	.	E	+	1	0	GCNT1	78307952	0.115000	0.22152	0.001000	0.08648	0.021000	0.10359	0.915000	0.28638	0.080000	0.16959	0.655000	0.94253	GAA		0.463	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		T	79118132	G	T	79118132	4	4	90	1	0	0	0	0	0	1	0	0	6300	1059	37	5	837	5	GCNT1	9	79118132	Nonsense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		79118132	62095299	40	6024											
MRC1	4360	broad.mit.edu	37	chr10	17949554	17949554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctgatgaccagggacGtggctgtggataaataacag	12	11	12	6	1	1	2	0	2	1	0	1	4	1	4	1	3	1	1	1	3	4	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:17949554G>A	ENST00000331429.2	+	28	4021	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GACCAGGGACGTGGCTGTGGA	0.383																																						uc001ipk.3																			0				breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(3916-3918)acG>acA		Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.							35	37	36					10																	17949554		2176	4257	6433	SO:0001819	synonymous_variant	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17949554G>A																												ENST00000331429.2:c.3918G>A	10.37:g.17949554G>A							p.T1306T	NM_002438	NP_002429	P22897	MRC1_HUMAN			27	4021	+			1306			C-type lectin 8.			Silent	SNP	ENST00000331429.2	37	c.3918G>A																																																																																					0.383	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			A	17949554	G	A	17949554	2	1	90	1	0	0	0	0	0	0	0	1	9756	1132	40	1		1	MRC1	10	17949554	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		17949554	117585193	41	6025											
CTNNA3	29119	broad.mit.edu	37	chr10	69407205	69407205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccagtagcttctccaCggtgaatgtttggacctgca	8	11	11	11	1	1	1	0	1	1	0	3	2	2	2	3	3	2	5	3	3	2	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:69407205C>T	ENST00000433211.2	-	2	241	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	CTNNA3_ENST00000545309.1_Missense_Mutation_p.V23M|CTNNA3_ENST00000373744.4_Missense_Mutation_p.V23M	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCTTCTCCACGGTGAATGTT	0.393																																						uc009xpn.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(67-69)Gtg>Atg		Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.							139	133	135					10																	69407205		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69407205C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.67G>A	10.37:g.69407205C>T	ENSP00000389714:p.Val23Met					CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.4_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	p.V23M	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN			1	190	-			23						Missense_Mutation	SNP	ENST00000433211.2	37	c.67G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612371	0.66672	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.71	4.81	0.61882	.	0.098484	0.38663	N	0.001608	T	0.64204	0.2577	L	0.61036	1.89	0.39744	D	0.971785	D;D;D	0.89917	0.973;1.0;0.999	P;D;D	0.85130	0.824;0.997;0.993	T	0.68765	-0.5322	10	0.87932	D	0	-9.6552	11.4919	0.50385	0.0:0.9165:0.0:0.0835	.	23;23;23	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	M	23	ENSP00000389714:V23M;ENSP00000362849:V23M;ENSP00000441444:V23M;ENSP00000330570:V23M	ENSP00000330570:V23M	V	-	1	0	CTNNA3	69077211	1.000000	0.71417	0.986000	0.45419	0.796000	0.44982	2.895000	0.48648	1.410000	0.46936	0.655000	0.94253	GTG		0.393	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	69407205	C	T	69407205	3	4	90	1	0	0	0	0	1	0	0	0	4014	536	19	1	2688	1	CTNNA3	10	69407205	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	51457651	69407205	66127542	42	6026											
TTC17	55761	broad.mit.edu	37	chr11	43411222	43411222	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaattagttgctcaaaaAattcacatagaagagaatga	21	9	6	5	0	2	3	2	1	0	2	2	4	2	3	0	0	2	2	0	0	9	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:43411222A>C	ENST00000039989.4	+	3	284	c.270A>C	c.(268-270)aaA>aaC	p.K90N	TTC17_ENST00000299240.6_Missense_Mutation_p.K90N|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	90					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCTCAAAAAATTCACATAG	0.393																																						uc001mxi.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(268-270)aaA>aaC		Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.							90	87	88					11																	43411222		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411222A>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.270A>C	11.37:g.43411222A>C	ENSP00000039989:p.Lys90Asn					TTC17_uc001mxh.3_Missense_Mutation_p.K90N|TTC17_uc010rfj.2_Missense_Mutation_p.K33N	p.K90N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			2	340	+			90					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.270A>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025348	0.75390	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.37915	1.17;1.18	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.51422	1.61	0.51233	D	0.999916	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.51387	-0.8712	10	0.66056	D	0.02	-17.8804	5.5295	0.16976	0.773:0.0:0.227:0.0	.	90;90;90	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	N	90	ENSP00000299240:K90N;ENSP00000039989:K90N	ENSP00000039989:K90N	K	+	3	2	TTC17	43367798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.537000	0.60643	1.944000	0.56390	0.460000	0.39030	AAA		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		C	43411222	A	C	43411222	3	2	90	1	0	0	0	0	1	0	0	0	16681	11	1	5	280	5	TTC17	11	43411222	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		43411222	91595294	43	6027											
OR4D9	390199	broad.mit.edu	37	chr11	59282555	59282555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaatctcaccttcataCgcccatgtacttcctgctcc	7	13	5	16	1	2	1	2	1	1	0	5	1	4	1	4	0	3	2	4	0	3	4	rs535085659		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:59282555C>T	ENST00000329328.3	+	1	170	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACCTTCATACGCCCATGTAC	0.433																																						uc010rkv.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(169-171)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.							235	228	230					11																	59282555		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282555C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.170C>T	11.37:g.59282555C>T	ENSP00000328563:p.Thr57Met						p.T57M	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			0	170	+			57					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.170C>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	C	4.875	0.162652	0.09287	.	.	ENSG00000172742	ENST00000329328	T	0.00481	7.11	4.29	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.200392	0.24067	U	0.041851	T	0.00468	0.0015	M	0.83384	2.64	0.09310	N	0.999997	P	0.42973	0.796	B	0.31614	0.133	T	0.50039	-0.8874	10	0.62326	D	0.03	.	8.5391	0.33382	0.0:0.7273:0.0:0.2727	.	57	Q8NGE8	OR4D9_HUMAN	M	57	ENSP00000328563:T57M	ENSP00000328563:T57M	T	+	2	0	OR4D9	59039131	0.000000	0.05858	0.883000	0.34634	0.050000	0.14768	0.102000	0.15272	0.341000	0.23771	-0.136000	0.14681	ACG		0.433	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		T	59282555	C	T	59282555	3	4	90	1	0	0	0	0	1	0	0	0	11059	536	19	1	172	1	OR4D9	11	59282555	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	15871333	59282555	75723961	44	6028											
GLB1L3	112937	broad.mit.edu	37	chr11	134182345	134182345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagtccatctgctccGgaggccgcctccgtgcccac	7	7	11	16	3	1	1	0	1	1	1	4	3	4	2	6	2	2	1	6	2	1	0	rs200296164	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:134182345G>A	ENST00000431683.2	+	14	1390	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	464					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATCTGCTCCGGAGGCCGCCT	0.607													G|||	3	0.000599042	0.0023	0	5008	,	,		19163	0		0	False		,,,				2504	0					uc009zdf.3																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1390-1392)Gga>Aga		Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.		G	ARG/GLY	11,4165		0,11,2077	41	45	43		1390	2.8	0.1	11		43	0,8430		0,0,4215	yes	missense	GLB1L3	NM_001080407.2	125	0,11,6292	AA,AG,GG		0.0,0.2634,0.0873	possibly-damaging	464/654	134182345	11,12595	2088	4215	6303	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134182345G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1390G>A	11.37:g.134182345G>A	ENSP00000396615:p.Gly464Arg					GLB1L3_uc001qho.4_Non-coding_Transcript	p.G464R	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1750	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	464					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1390G>A	CCDS44780.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.88	2.368579	0.42003	0.002634	0.0	ENSG00000166105	ENST00000431683	D	0.93189	-3.18	4.69	2.82	0.32997	.	0.344621	0.33327	N	0.005023	D	0.92166	0.7516	M	0.84773	2.715	0.32127	N	0.587254	B	0.21452	0.056	B	0.18561	0.022	D	0.90117	0.4196	10	0.49607	T	0.09	.	8.5103	0.33213	0.1847:0.0:0.8153:0.0	.	464	Q8NCI6	GLBL3_HUMAN	R	464	ENSP00000396615:G464R	ENSP00000396615:G464R	G	+	1	0	GLB1L3	133687555	0.934000	0.31675	0.103000	0.21229	0.009000	0.06853	2.393000	0.44442	0.705000	0.31890	0.655000	0.94253	GGA		0.607	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		A	134182345	G	A	134182345	3	1	90	1	0	0	0	0	1	0	0	0	6430	1117	39	2	1444	2	GLB1L3	11	134182345	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	74899790	134182345	824171	45	6029											
KLRD1	3824	broad.mit.edu	37	chr12	10466085	10466085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccgcctggttgtgggAgaatggctctgcactctccc	6	9	12	14	1	2	1	0	0	2	1	3	2	2	1	3	3	1	4	3	3	1	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr12:10466085A>T	ENST00000381907.4	+	6	594	c.392A>T	c.(391-393)gAg>gTg	p.E131V	KLRD1_ENST00000381908.3_Missense_Mutation_p.E132V|KLRD1_ENST00000543420.1_3'UTR|KLRD1_ENST00000543777.1_Missense_Mutation_p.E110V|KLRD1_ENST00000350274.5_Missense_Mutation_p.E100V|KLRD1_ENST00000336164.4_Missense_Mutation_p.E131V	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGTTGTGGGAGAATGGCTCT	0.418																																						uc009zhi.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10								Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.							160	152	155					12																	10466085		2203	4300	6503	SO:0001583	missense	3824				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10466085A>T	U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.392A>T	12.37:g.10466085A>T	ENSP00000371332:p.Glu131Val					KLRD1_uc001qxw.4_Missense_Mutation_p.E131V|KLRD1_uc001qxx.4_Missense_Mutation_p.E131V|KLRD1_uc001qxy.4_Missense_Mutation_p.E100V|KLRD1_uc009zhh.3_Missense_Mutation_p.E110V|KLRD1_uc001qxz.4_Missense_Mutation_p.E132V				Q13241	KLRD1_HUMAN			4		+								O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	ENST00000381907.4	37		CCDS8621.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582057	0.46006	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543777	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.65	4.47	0.54385	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.382745	0.22210	N	0.063101	T	0.36991	0.0987	M	0.68317	2.08	0.32457	N	0.544654	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.967;0.999;1.0	T	0.50320	-0.8842	10	0.66056	D	0.02	.	9.0293	0.36249	0.8359:0.0:0.0:0.1641	.	110;132;100;131	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	V	100;131;132;131;100;110	ENSP00000438669:E100V;ENSP00000371332:E131V;ENSP00000371333:E132V;ENSP00000338130:E131V;ENSP00000310929:E100V;ENSP00000443584:E110V	ENSP00000338130:E131V	E	+	2	0	KLRD1	10357352	0.961000	0.32948	0.874000	0.34290	0.124000	0.20399	1.796000	0.38794	1.024000	0.39682	0.528000	0.53228	GAG		0.418	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2	NM_002262		T	10466085	A	T	10466085	3	4	90	1	0	0	0	0	1	0	0	0	8419	304	11	5	410	5	KLRD1	12	10466085	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		10466085	123385810	46	6030											
TEP1	7011	broad.mit.edu	37	chr14	20848171	20848171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattggtggagaaggccAcagcagtaggggatgaggaa	12	5	17	7	0	0	2	0	1	0	1	0	5	0	4	2	6	1	2	2	6	3	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:20848171A>G	ENST00000262715.5	-	35	5085	c.5045T>C	c.(5044-5046)gTg>gCg	p.V1682A	TEP1_ENST00000556935.1_Missense_Mutation_p.V1574A|TEP1_ENST00000545983.1_Missense_Mutation_p.V20A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1682					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGAAGGCCACAGCAGTAGG	0.507																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5044-5046)gTg>gCg		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							85	81	83					14																	20848171		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20848171A>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5045T>C	14.37:g.20848171A>G	ENSP00000262715:p.Val1682Ala					TEP1_uc010ahk.3_Missense_Mutation_p.V1025A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.V1574A|TEP1_uc010tlh.1_Missense_Mutation_p.V20A	p.V1682A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	34	5085	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1682					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5045T>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515704	0.44763	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.55052	0.54;1.39;1.39	5.48	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.270358	0.37393	N	0.002103	T	0.65863	0.2732	M	0.82716	2.605	0.28607	N	0.908862	P;B;D;B	0.69078	0.9;0.015;0.997;0.009	P;B;P;B	0.55391	0.525;0.018;0.775;0.012	T	0.64491	-0.6395	10	0.54805	T	0.06	-21.5942	9.4182	0.38534	0.9167:0.0:0.0833:0.0	.	20;1574;1025;1682	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	A	1682;1682;1574;20	ENSP00000262715:V1682A;ENSP00000452574:V1574A;ENSP00000438849:V20A	ENSP00000262715:V1682A	V	-	2	0	TEP1	19918011	0.950000	0.32346	0.940000	0.37924	0.021000	0.10359	3.198000	0.51035	0.892000	0.36259	0.533000	0.62120	GTG		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20848171	A	G	20848171	3	3	90	1	0	0	0	0	1	0	0	0	15756	159	6	4	2922	4	TEP1	14	20848171	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		20848171	86501369	47	6031											
CHD8	57680	broad.mit.edu	37	chr14	21860822	21860832	+	Frame_Shift_Del	DEL	AGGAGTCAATG	AGGAGTCAATG	-																															ggagagtcaccatattctccAggagtcaatgagggactgtc																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:21860822_21860832delAGGAGTCAATG	ENST00000557364.1	-	34	6868_6878	c.6605_6615delCATTGACTCCT	c.(6604-6615)tcattgactcctfs	p.SLTP2202fs	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Frame_Shift_Del_p.SLTP1923fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.SLTP2202fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2202					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATATTCTCCAGGAGTCAATGAGGGACTGTC	0.555																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6604-6615)tcattgactcctfs		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860822_21860832delAGGAGTCAATG	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6605_6615delCATTGACTCCT	14.37:g.21860822_21860832delAGGAGTCAATG	ENSP00000451601:p.Ser2202fs					CHD8_uc001was.2_Frame_Shift_Del_p.S1923fs|SNORD9_uc001wat.1_5'Flank	p.S2202fs	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	32	6670_6680	-	all_cancers(95;0.00121)		2202					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.6605_6615delCATTGACTCCT	CCDS53885.1																																																																																				0.555	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		-	21860832	AGGAGTCAATG	-	21860822	7	5	90	1	0	1	0	1	0	0	0	0	3331	175	7	0	1150	0	CHD8	14	21860822	Frame_Shift_Del	DEL	AGGAGTCAATG	TCGA-06-5413-01A-01D-1696-08	1012651	21860822	85488718	48	6032											
TMEM229B	161145	broad.mit.edu	37	chr14	67940502	67940502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgaagagggcccacaCgctcgtgaccccagggaact	11	5	13	12	2	0	4	0	2	0	2	1	5	0	5	3	2	1	2	3	2	3	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:67940502C>T	ENST00000557006.1	-	4	421	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TMEM229B_ENST00000357461.2_Missense_Mutation_p.V47M			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	47						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGCCCACACGCTCGTGACC	0.617																																						uc001xjk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(139-141)Gtg>Atg		Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.							61	41	48					14																	67940502		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940502C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.139G>A	14.37:g.67940502C>T	ENSP00000451774:p.Val47Met					TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.V47M	p.V47M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			2	549	-			47						Missense_Mutation	SNP	ENST00000557006.1	37	c.139G>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.736198	0.89482	.	.	ENSG00000198133	ENST00000557006;ENST00000357461;ENST00000554278;ENST00000554480;ENST00000555994;ENST00000557779	.	.	.	4.82	4.82	0.62117	.	0.368825	0.30374	N	0.009769	T	0.76884	0.4050	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.78178	-0.2305	9	0.48119	T	0.1	-25.5356	17.9318	0.88999	0.0:1.0:0.0:0.0	.	47	Q8NBD8	T229B_HUMAN	M	47	.	ENSP00000350050:V47M	V	-	1	0	TMEM229B	67010255	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.996000	0.70639	2.233000	0.73108	0.450000	0.29827	GTG		0.617	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		T	67940502	C	T	67940502	3	4	90	1	0	0	0	0	1	0	0	0	16145	536	19	1	368	1	TMEM229B	14	67940502	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	46079680	67940502	39409038	49	6033											
PTX4	390667	broad.mit.edu	37	chr16	1537571	1537571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggcccgagggctgcagtgCcagggtgggccacgggcagc	5	3	19	14	3	0	0	0	0	0	0	0	1	0	0	4	5	3	3	4	5	0	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:1537571C>T	ENST00000447419.2	-	2	567	c.542G>A	c.(541-543)gGc>gAc	p.G181D	PTX4_ENST00000293922.1_Missense_Mutation_p.G176D|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	181						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGCAGTGCCAGGGTGGGC	0.726																																						uc010uvf.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(526-528)gGc>gAc		Homo sapiens pentraxin 4, long (PTX4), mRNA.							10	12	11					16																	1537571		2173	4239	6412	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537571C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.542G>A	16.37:g.1537571C>T	ENSP00000445277:p.Gly181Asp						p.G176D	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			1	527	-			181						Missense_Mutation	SNP	ENST00000447419.2	37	c.527G>A		.	.	.	.	.	.	.	.	.	.	C	11.75	1.730350	0.30684	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05925	3.54;3.37	4.87	2.69	0.31865	.	2.118290	0.01801	N	0.032886	T	0.08582	0.0213	L	0.48642	1.525	0.09310	N	1	B	0.22003	0.063	B	0.17433	0.018	T	0.30238	-0.9985	10	0.49607	T	0.09	.	5.7418	0.18098	0.0:0.6301:0.2588:0.1111	.	176	Q96A99-2	.	D	181;176	ENSP00000445277:G181D;ENSP00000293922:G176D	ENSP00000293922:G176D	G	-	2	0	PTX4	1477572	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.222000	0.09190	1.196000	0.43129	0.655000	0.94253	GGC		0.726	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1537571	C	T	1537571	3	4	90	1	0	0	0	0	1	0	0	0	12823	739	26	3	901	3	PTX4	16	1537571	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		1537571	88817182	50	6034											
PRKCB	5579	broad.mit.edu	37	chr16	24104126	24104126	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagtaagagatgctaaaAaccttgtacctatggacccc	13	11	7	10	0	1	1	1	0	0	1	1	3	1	2	4	1	3	3	4	1	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:24104126A>T	ENST00000321728.7	+	6	719	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	PRKCB_ENST00000303531.7_Missense_Mutation_p.N182Y|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	182	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGATGCTAAAAACCTTGTACC	0.418																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(544-546)Aac>Tac		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						147	130	136					16																	24104126		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104126A>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.544A>T	16.37:g.24104126A>T	ENSP00000318315:p.Asn182Tyr					PRKCB_uc002dme.3_Missense_Mutation_p.N182Y	p.N182Y	NM_212535	NP_997700	P05771	KPCB_HUMAN			5	741	+			182			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.544A>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460492	0.84317	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.52526	0.66;0.66	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.86662	0.1905	10	0.72032	D	0.01	.	14.4992	0.67709	1.0:0.0:0.0:0.0	.	182;182	P05771-2;P05771	.;KPCB_HUMAN	Y	182	ENSP00000318315:N182Y;ENSP00000305355:N182Y	ENSP00000305355:N182Y	N	+	1	0	PRKCB	24011627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.119000	0.77145	2.083000	0.62718	0.454000	0.30748	AAC		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		T	24104126	A	T	24104126	3	4	90	1	0	0	0	0	1	0	0	0	12508	14	1	5	566	5	PRKCB	16	24104126	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	22566555	24104126	66250627	51	6035											
SPNS1	83985	broad.mit.edu	37	chr16	28992797	28992797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtctcccaggtgacaCcgggtctaggagtggtggcc	5	9	14	13	1	3	1	0	1	3	0	4	2	3	2	4	5	0	0	4	5	1	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:28992797C>A	ENST00000311008.11	+	6	1047	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	SPNS1_ENST00000334536.8_Missense_Mutation_p.P224T|SPNS1_ENST00000323081.8_Missense_Mutation_p.P151T|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.P202T|SPNS1_ENST00000565975.1_Missense_Mutation_p.P269T	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	224					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCAGGTGACACCGGGTCTAGG	0.622											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vdi.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(670-672)Ccg>Acg		Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.							67	67	67					16																	28992797		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28992797C>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.670C>A	16.37:g.28992797C>A	ENSP00000309945:p.Pro224Thr		OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	806	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank	p.P224T	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN			6	810	+			224					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.670C>A	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724528	0.89298	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.91	4.91	0.64330	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.998;1.0	D;D;D;D	0.97110	0.976;0.976;0.986;1.0	T	0.78755	-0.2080	10	0.87932	D	0	.	15.6352	0.76946	0.0:1.0:0.0:0.0	.	151;202;224;224	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	T	224;224;202;151	ENSP00000309945:P224T;ENSP00000335494:P224T;ENSP00000306050:P202T;ENSP00000318228:P151T	ENSP00000309945:P224T	P	+	1	0	SPNS1	28900298	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	5.888000	0.69758	2.557000	0.86248	0.655000	0.94253	CCG		0.622	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		A	28992797	C	A	28992797	3	1	90	1	0	0	0	0	1	0	0	0	15073	507	18	5	692	5	SPNS1	16	28992797	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	4888671	28992797	61361956	52	6036											
SETD1A	9739	broad.mit.edu	37	chr16	30970183	30970183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaggtgtaccgctatgatgGagtccacttcagtgtcaacg	10	10	12	9	2	2	1	2	1	0	0	3	3	3	2	2	2	2	2	2	2	4	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:30970183G>A	ENST00000262519.8	+	2	817	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	44					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTATGATGGAGTCCACTTC	0.597																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(130-132)gGa>gAa		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							102	96	98					16																	30970183		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30970183G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.131G>A	16.37:g.30970183G>A	ENSP00000262519:p.Gly44Glu					SETD1A_uc002eae.1_Missense_Mutation_p.G44E	p.G44E	NM_014712	NP_055527	O15047	SET1A_HUMAN			1	817	+			44					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.131G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013113	0.75161	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.98280	-4.84	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99866	1.1089	10	0.87932	D	0	.	17.5247	0.87796	0.0:0.0:1.0:0.0	.	44	O15047	SET1A_HUMAN	E	44	ENSP00000262519:G44E	ENSP00000262519:G44E	G	+	2	0	SETD1A	30877684	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.316000	0.96319	2.426000	0.82243	0.655000	0.94253	GGA		0.597	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		A	30970183	G	A	30970183	3	1	90	1	0	0	0	0	1	0	0	0	14130	1174	41	3	133	3	SETD1A	16	30970183	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	1977386	30970183	59384570	53	6037											
ZPBP2	124626	broad.mit.edu	37	chr17	38027064	38027064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgggcctaatgaaaagaCgttaacaggtaaatttgatt	15	12	10	4	1	0	3	0	2	0	1	0	4	0	3	1	2	1	2	1	2	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:38027064C>T	ENST00000348931.4	+	3	427	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZPBP2_ENST00000584588.1_Missense_Mutation_p.T79M|ZPBP2_ENST00000377940.3_Missense_Mutation_p.T57M	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	79					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATGAAAAGACGTTAACAGGT	0.284																																						uc002hte.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(235-237)aCg>aTg		Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.							53	56	55					17																	38027064		2203	4289	6492	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38027064C>T	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.236C>T	17.37:g.38027064C>T	ENSP00000335384:p.Thr79Met					ZPBP2_uc002htf.3_Missense_Mutation_p.T57M	p.T79M	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	389	+	Colorectal(19;0.000442)		79					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.236C>T	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	7.770	0.707218	0.15239	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.77489	-1.1;-1.1	4.74	-0.151	0.13411	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.317880	0.05097	N	0.486406	T	0.67942	0.2947	L	0.47716	1.5	0.09310	N	1	B;B	0.27732	0.145;0.187	B;B	0.17098	0.01;0.017	T	0.49643	-0.8918	10	0.33141	T	0.24	0.4157	5.8556	0.18718	0.5982:0.2294:0.0:0.1724	.	57;79	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	M	79;57	ENSP00000335384:T79M;ENSP00000367174:T57M	ENSP00000335384:T79M	T	+	2	0	ZPBP2	35280590	0.027000	0.19231	0.665000	0.29768	0.813000	0.45954	-0.022000	0.12480	0.016000	0.14998	0.563000	0.77884	ACG		0.284	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		T	38027064	C	T	38027064	3	4	90	1	0	0	0	0	1	0	0	0	18217	536	19	1	246	1	ZPBP2	17	38027064	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		38027064	43168146	54	6038											
AKAP1	8165	broad.mit.edu	37	chr17	55189944	55189944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgctcccccattgcctTcactggcactgccttctctg	4	13	6	18	1	3	0	1	0	2	0	5	0	4	0	4	1	3	2	4	1	1	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:55189944T>A	ENST00000337714.3	+	5	2301	c.2068T>A	c.(2068-2070)Tca>Aca	p.S690T	AKAP1_ENST00000539273.1_Missense_Mutation_p.S690T|AKAP1_ENST00000571629.1_Missense_Mutation_p.S690T|AKAP1_ENST00000572557.1_Missense_Mutation_p.S690T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	690					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCATTGCCTTCACTGGCACT	0.502																																						uc010wnl.2																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2068-2070)Tca>Aca		Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.							132	92	105					17																	55189944		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55189944T>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2068T>A	17.37:g.55189944T>A	ENSP00000337736:p.Ser690Thr					AKAP1_uc002iux.3_Missense_Mutation_p.S690T|AKAP1_uc021uak.1_Missense_Mutation_p.S690T|AKAP1_uc010dcm.3_Missense_Mutation_p.S690T|AKAP1_uc002iuy.3_Non-coding_Transcript	p.S690T	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN			5	2350	+	Breast(9;5.46e-08)		690					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2068T>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554714	0.65425	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.15372	2.43;2.43	5.56	5.56	0.83823	.	0.121326	0.64402	D	0.000019	T	0.16300	0.0392	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.59115	0.852	T	0.21655	-1.0239	10	0.19147	T	0.46	-16.5684	11.32	0.49417	0.1359:0.0:0.0:0.8641	.	690	Q92667	AKAP1_HUMAN	T	690;732;690	ENSP00000337736:S690T;ENSP00000443139:S690T	ENSP00000337736:S690T	S	+	1	0	AKAP1	52544943	0.993000	0.37304	0.986000	0.45419	0.854000	0.48673	3.295000	0.51794	2.116000	0.64780	0.459000	0.35465	TCA		0.502	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			A	55189944	T	A	55189944	3	1	90	1	0	0	0	0	1	0	0	0	445	1783	62	5	2082	5	AKAP1	17	55189944	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	17162880	55189944	26005266	55	6039											
MPO	4353	broad.mit.edu	37	chr17	56352985	56352985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaggctcttgagctctGtggccagccggttgtgctcc	3	12	14	12	1	3	1	1	1	2	0	4	1	4	1	3	4	3	5	3	4	0	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:56352985G>C	ENST00000225275.3	-	8	1459	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R	MPO_ENST00000340482.3_Missense_Mutation_p.T460R|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	428					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CTTGAGCTCTGTGGCCAGCCG	0.617																																						uc002ivu.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1282-1284)aCa>aGa		Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	Cefdinir(DB00535)						103	81	89					17																	56352985		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56352985G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1283C>G	17.37:g.56352985G>C	ENSP00000225275:p.Thr428Arg						p.T428R	NM_000250	NP_000241	P05164	PERM_HUMAN			7	1460	-			428					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1283C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.062290	0.01950	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72394	-0.65;-0.65	4.8	3.82	0.43975	.	0.398502	0.29707	N	0.011409	T	0.44350	0.1289	N	0.16743	0.435	0.28049	N	0.933446	B	0.15473	0.013	B	0.14023	0.01	T	0.32824	-0.9892	10	0.05721	T	0.95	-1.568	4.0834	0.09937	0.0847:0.2867:0.4762:0.1524	.	428	P05164	PERM_HUMAN	R	460;428	ENSP00000344419:T460R;ENSP00000225275:T428R	ENSP00000225275:T428R	T	-	2	0	MPO	53707984	0.069000	0.21087	0.583000	0.28640	0.411000	0.31082	0.416000	0.21198	1.000000	0.39049	0.462000	0.41574	ACA		0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			C	56352985	G	C	56352985	3	2	90	1	0	0	0	0	1	0	0	0	9732	1377	48	5	974	5	MPO	17	56352985	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	1163041	56352985	24842225	56	6040											
LRP3	4037	broad.mit.edu	37	chr19	33696170	33696170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggaagctgggccaggcatCctgccaggcagatgagttcc	9	6	15	11	0	0	2	0	1	0	1	2	3	2	3	4	4	2	4	4	4	1	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:33696170C>G	ENST00000253193.7	+	5	696	c.494C>G	c.(493-495)tCc>tGc	p.S165C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	165	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCCAGGCATCCTGCCAGGCA	0.662																																						uc010edh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(493-495)tCc>tGc		Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.							17	15	16					19																	33696170		2202	4299	6501	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696170C>G	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.494C>G	19.37:g.33696170C>G	ENSP00000253193:p.Ser165Cys					LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.4_Missense_Mutation_p.S39C	p.S165C	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	587	+	Esophageal squamous(110;0.137)		165			LDL-receptor class A 1.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.494C>G	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839231	0.32513	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	D	0.95622	-3.76	4.02	2.99	0.34606	.	0.275949	0.35179	N	0.003397	D	0.95993	0.8695	M	0.75777	2.31	0.20563	N	0.999888	D;D;P	0.57571	0.97;0.98;0.938	P;P;P	0.57371	0.65;0.819;0.557	D	0.90200	0.4256	10	0.39692	T	0.17	-25.635	9.488	0.38942	0.0:0.8182:0.0:0.1818	.	39;165;83	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	C	39;165	ENSP00000253193:S165C	ENSP00000253193:S165C	S	+	2	0	LRP3	38388010	0.352000	0.24895	0.838000	0.33150	0.659000	0.38960	0.790000	0.26900	0.926000	0.37118	-0.448000	0.05591	TCC		0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			G	33696170	C	G	33696170	3	3	90	1	0	0	0	0	1	0	0	0	8958	855	30	5	512	5	LRP3	19	33696170	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		33696170	25432813	57	6041											
ZNF540	163255	broad.mit.edu	37	chr19	38103381	38103381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcgtggacagcttaatcgGcataaaacaatccatactgg	13	9	10	9	2	0	0	0	0	0	0	2	1	1	1	1	3	4	2	1	3	5	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:38103381G>A	ENST00000592533.1	+	5	1532	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	ZNF540_ENST00000316433.4_Silent_p.R400R|ZNF540_ENST00000589117.1_Silent_p.R368R|ZNF540_ENST00000343599.5_Silent_p.R400R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	400					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTTAATCGGCATAAAACAA	0.373																																						uc002ogq.3																			0											c.(1198-1200)cgG>cgA		Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.							120	114	116					19																	38103381		2203	4300	6503	SO:0001819	synonymous_variant	163255							g.chr19:38103381G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1200G>A	19.37:g.38103381G>A						LOC100507433_uc002ogu.3_Silent_p.R400R|LOC100507433_uc010efq.3_Silent_p.R368R	p.R400R	NM_152606	NP_689819					4	1567	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.1200G>A	CCDS12506.1																																																																																				0.373	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		A	38103381	G	A	38103381	2	1	90	1	0	0	0	0	0	0	0	1	17972	1190	42	3		3	ZNF540	19	38103381	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	4407211	38103381	21025602	58	6042											
NCR1	9437	broad.mit.edu	37	chr19	55420766	55420766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatacgggaaggtccaggCggagttccccctgggccctg	6	6	16	13	3	0	0	0	0	0	0	2	3	2	3	4	6	1	1	4	6	2	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:55420766C>T	ENST00000291890.4	+	4	556	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NCR1_ENST00000338835.5_Missense_Mutation_p.A173V|NCR1_ENST00000357397.5_Missense_Mutation_p.A66V|NCR1_ENST00000594765.1_Missense_Mutation_p.A173V|NCR1_ENST00000598576.1_Missense_Mutation_p.A161V|NCR1_ENST00000350790.5_Missense_Mutation_p.A78V|NCR1_ENST00000447255.1_Missense_Mutation_p.A173V	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	173	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.A173V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAGGTCCAGGCGGAGTTCCCC	0.572																																						uc002qib.2																			1	Substitution - Missense(1)	p.A173V(2)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(517-519)gCg>gTg		Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.							101	90	94					19																	55420766		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420766C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.518C>T	19.37:g.55420766C>T	ENSP00000291890:p.Ala173Val					NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	p.A173V	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	556	+			173			Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.518C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883361	0.51908	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.03635	3.86;3.86;3.86;3.86;3.86	3.53	0.0573	0.14322	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.127958	0.35585	N	0.003113	T	0.08537	0.0212	M	0.64997	1.995	0.09310	N	1	D;D;D;D;D;D	0.89917	0.997;0.962;0.999;0.971;0.994;1.0	B;B;P;P;P;P	0.61003	0.439;0.444;0.575;0.523;0.53;0.882	T	0.13602	-1.0503	10	0.62326	D	0.03	.	3.3081	0.07007	0.0:0.5107:0.2197:0.2696	.	66;78;173;78;173;173	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	V	173;173;173;78;66	ENSP00000291890:A173V;ENSP00000404434:A173V;ENSP00000339515:A173V;ENSP00000344358:A78V;ENSP00000349972:A66V	ENSP00000291890:A173V	A	+	2	0	NCR1	60112578	0.005000	0.15991	0.000000	0.03702	0.035000	0.12851	0.328000	0.19681	0.100000	0.17581	0.591000	0.81541	GCG		0.572	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			T	55420766	C	T	55420766	3	4	90	1	0	0	0	0	1	0	0	0	10237	768	27	1	532	1	NCR1	19	55420766	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	17317385	55420766	3708217	59	6043											
HM13	81502	broad.mit.edu	37	chr20	30136902	30136902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagcatcgttggcgtctgGtacctgctgaggaaggtgag	8	9	16	8	2	1	2	0	2	1	0	2	3	1	3	1	4	4	5	1	4	2	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr20:30136902G>T	ENST00000340852.5	+	5	649	c.525G>T	c.(523-525)tgG>tgT	p.W175C	HM13_ENST00000398174.3_Missense_Mutation_p.W175C|HM13_ENST00000376127.3_Missense_Mutation_p.W175C|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Missense_Mutation_p.W175C	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	175					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGGCGTCTGGTACCTGCTGA	0.577																																						uc002wwc.3																			0		p.V174I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(523-525)tgG>tgT		Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.							233	223	226					20																	30136902		2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30136902G>T	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.525G>T	20.37:g.30136902G>T	ENSP00000343032:p.Trp175Cys					HM13_uc002wwd.3_Missense_Mutation_p.W175C|HM13_uc002wwe.3_Missense_Mutation_p.W175C|HM13_uc002wwf.3_Missense_Mutation_p.W51C	p.W175C	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		4	639	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		175					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.525G>T	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047265	0.75846	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.13	5.13	0.70059	.	0.064358	0.64402	D	0.000002	T	0.43010	0.1228	M	0.90309	3.105	0.80722	D	1	P;P;B	0.48834	0.865;0.916;0.251	P;P;B	0.54431	0.752;0.708;0.159	T	0.48055	-0.9068	10	0.48119	T	0.1	-3.821	15.8945	0.79325	0.0:0.0:1.0:0.0	.	175;175;175	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	C	175	ENSP00000335294:W175C;ENSP00000343032:W175C;ENSP00000381237:W175C;ENSP00000365296:W175C;ENSP00000341347:W175C	ENSP00000335294:W175C	W	+	3	0	HM13	29600563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.242000	0.95408	2.655000	0.90218	0.655000	0.94253	TGG		0.577	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		T	30136902	G	T	30136902	3	4	90	1	0	0	0	0	1	0	0	0	7217	1270	44	5	610	5	HM13	20	30136902	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		30136902	32888618	60	6044											
HUNK	30811	broad.mit.edu	37	chr21	33296873	33296873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagatccagcagatgatcCgccaccccaatatcactcag	12	7	7	15	1	3	3	3	1	0	2	5	3	5	3	5	0	1	1	5	0	2	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr21:33296873C>T	ENST00000270112.2	+	2	715	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCAGATGATCCGCCACCCCAA	0.488																																						uc002yph.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(355-357)Cgc>Tgc		Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.							65	60	62					21																	33296873		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296873C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.355C>T	21.37:g.33296873C>T	ENSP00000270112:p.Arg119Cys						p.R119C	NM_014586	NP_055401	P57058	HUNK_HUMAN			1	715	+			119			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.355C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903000	0.72754	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.26810	1.71;1.71	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127960	0.50627	D	0.000112	T	0.50171	0.1600	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52563	-0.8559	10	0.72032	D	0.01	-16.3898	13.198	0.59749	0.1591:0.8409:0.0:0.0	.	119	P57058	HUNK_HUMAN	C	119;4	ENSP00000270112:R119C;ENSP00000411860:R4C	ENSP00000270112:R119C	R	+	1	0	HUNK	32218744	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.247000	0.58750	2.513000	0.84729	0.650000	0.86243	CGC		0.488	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		T	33296873	C	T	33296873	3	4	90	1	0	0	0	0	1	0	0	0	7458	652	23	2	361	2	HUNK	21	33296873	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		33296873	14833022	61	6045											
LZTR1	8216	broad.mit.edu	37	chr22	21344765	21344765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtattctctgggcaaagcGgagccaaaataaccaacaac	15	8	8	10	1	1	0	0	0	1	0	2	1	1	1	2	2	5	2	2	2	7	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:21344765G>A	ENST00000215739.8	+	8	1101	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_ENST00000389355.3_Missense_Mutation_p.G229R|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	248					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G248R(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562																																						uc002zto.3																			1	Substitution - Missense(1)	p.G248R(2)	large_intestine(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(742-744)Gga>Aga		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							107	101	103					22																	21344765		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344765G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.742G>A	22.37:g.21344765G>A	ENSP00000215739:p.Gly248Arg					LZTR1_uc002ztn.3_Missense_Mutation_p.G207R|LZTR1_uc011ahy.2_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R	p.G248R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		7	845	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	248					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.742G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252102	0.95336	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70869	-0.52;-0.52	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.051728	0.85682	D	0.000000	D	0.85075	0.5614	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.989;0.996;0.966;0.954	D	0.86723	0.1943	10	0.87932	D	0	-16.5654	17.1017	0.86652	0.0:0.0:1.0:0.0	.	229;207;248;207	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	R	207;248;229	ENSP00000215739:G248R;ENSP00000374006:G229R	ENSP00000215739:G248R	G	+	1	0	LZTR1	19674765	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	9.785000	0.99042	2.632000	0.89209	0.655000	0.94253	GGA		0.562	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		A	21344765	G	A	21344765	3	1	90	1	0	0	0	0	1	0	0	0	9137	1117	39	2	772	2	LZTR1	22	21344765	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		21344765	29959801	62	6046											
DEPDC5	9681	broad.mit.edu	37	chr22	32198714	32198715	+	Frame_Shift_Ins	INS	-	-	C																															gataagcactacatcaaccgINScaactttgaccgaactgggc																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:32198714_32198715insC	ENST00000382112.3	+	14	1041_1042	c.971_972insC	c.(970-975)cgcaacfs	p.N325fs	DEPDC5_ENST00000400249.2_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000400242.3_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000400248.2_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000536766.1_Frame_Shift_Ins_p.N297fs|DEPDC5_ENST00000400246.1_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000535622.1_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000266091.3_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000382105.2_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000382111.2_Frame_Shift_Ins_p.N325fs	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	325					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACATCAACCGCAACTTTGACC	0.46																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(970-972)cgcfs		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.																																				SO:0001589	frameshift_variant	9681				intracellular signal transduction			g.chr22:32198714_32198715insC	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.972dupC	22.37:g.32198715_32198715dupC	ENSP00000371546:p.Asn325fs					DEPDC5_uc011als.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003als.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.2_Frame_Shift_Ins_p.R296fs	p.R324fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			14	1173_1174	+			324					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Frame_Shift_Ins	INS	ENST00000382112.3	37	c.971_972insC	CCDS46692.1																																																																																				0.46	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		C	32198715	-	C	32198714	7	5	90	1	0	1	1	0	0	0	0	0	4442	1087	38	0	1025	0	DEPDC5	22	32198714	Frame_Shift_Ins	INS	-	TCGA-06-5413-01A-01D-1696-08	10853949	32198714	19105852	63	6047											
SBF1	6305	broad.mit.edu	37	chr22	50895482	50895483	+	Intron	INS	-	-	GAGGCC																															ctcggggtgcggtccgtctgINSgaggccgaggccgccatggg																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:50895482_50895483insGAGGCC	ENST00000390679.3	-	29	4011				SBF1_ENST00000348911.6_Intron|SBF1_ENST00000380817.3_In_Frame_Ins_p.1295_1295S>SAS|SBF1_ENST00000476293.1_5'UTR			O95248	MTMR5_HUMAN	SET binding factor 1						cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCCGTCTGGAGGCCGAGGC	0.678																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3883-3885)tcc>tcGGCCTCc		Homo sapiens SET binding factor 1 (SBF1), mRNA.																																				SO:0001627	intron_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50895482_50895483insGAGGCC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3827-380->GGCCTC	22.37:g.50895483_50895488dupGAGGCC						SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Intron	p.1295_1295S>SAS	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	28	4079_4080	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1275			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	In_Frame_Ins	INS	ENST00000390679.3	37	c.3884_3885insGGCCTC																																																																																					0.678	SBF1-201	KNOWN	basic	protein_coding	protein_coding				GAGGCC	50895483	-	GAGGCC	50895482	6	5	90	0	1	1	1	0	0	0	0	0	13858	1335	47	0		0	SBF1	22	50895482	Intron	INS	-	TCGA-06-5413-01A-01D-1696-08	18696768	50895482	409084	64	6048											
CYP4B1	1580	broad.mit.edu	37	chr1	47278284	47278284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttcactgagtctacaCgtatcatgctggtgagctcc	7	12	10	12	2	3	2	2	2	1	0	4	2	4	2	2	1	3	4	2	1	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:47278284C>T	ENST00000271153.4	+	4	520	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162C|CYP4B1_ENST00000452782.2_5'UTR			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	162					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGAGTCTACACGTATCATGCT	0.567																																						uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(484-486)Cgt>Tgt		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							158	133	141					1																	47278284		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47278284C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.484C>T	1.37:g.47278284C>T	ENSP00000271153:p.Arg162Cys					CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.R162C|CYP4B1_uc009vym.3_Missense_Mutation_p.R147C|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	p.R162C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			3	568	+	Acute lymphoblastic leukemia(166;0.155)		162					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.484C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791897	0.31685	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	T;T;T	0.70631	-0.5;-0.5;-0.5	5.91	-1.58	0.08479	.	1.453990	0.04051	N	0.304763	T	0.70736	0.3258	M	0.66939	2.045	0.09310	N	0.999998	B;B;B	0.22683	0.073;0.03;0.037	B;B;B	0.24848	0.043;0.033;0.056	T	0.62431	-0.6856	10	0.54805	T	0.06	.	12.4775	0.55823	0.6683:0.2441:0.0876:0.0	.	147;162;162	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	162;162;147	ENSP00000360991:R162C;ENSP00000271153:R162C;ENSP00000360987:R147C	ENSP00000271153:R162C	R	+	1	0	CYP4B1	47050871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.032000	0.12266	0.059000	0.16252	-0.293000	0.09583	CGT		0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47278284	C	T	47278284	3	4	91	1	0	0	0	0	1	0	0	0	4185	536	19	1	498	1	CYP4B1	1	47278284	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		47278284	201972337	1	6049											
HRNR	388697	broad.mit.edu	37	chr1	152187706	152187706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctagagccgtgttgtccGtagccagaggagtgacctga	9	9	14	9	2	1	4	0	2	1	2	2	6	2	5	4	1	2	2	4	1	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:152187706G>A	ENST00000368801.2	-	3	6474	c.6399C>T	c.(6397-6399)taC>taT	p.Y2133Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2133					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Y2133*(1)|p.Y2133Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTCCGTAGCCAGAGG	0.567																																						uc001ezt.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.Y2133*(2)|p.Y2133Y(2)	lung(2)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6397-6399)taC>taT		Homo sapiens hornerin (HRNR), mRNA.							22	23	22					1																	152187706		1603	3263	4866	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187706G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6399C>T	1.37:g.152187706G>A							p.Y2133Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6475	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2133					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6399C>T	CCDS30859.1																																																																																				0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152187706	G	A	152187706	2	1	91	1	0	0	0	0	0	0	0	1	7359	1140	40	1		1	HRNR	1	152187706	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	104909422	152187706	97062915	2	6050											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	10	12	9	10	1	3	4	1	2	2	2	3	5	3	5	2	1	2	1	2	1	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000368732.1_Missense_Mutation_p.K49R|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						uc001fbs.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.							115	115	115					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg						p.K49R	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	316	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		C	153362715	T	C	153362715	3	2	91	1	0	0	0	0	1	0	0	0	13786	1609	56	4	139	4	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-06-5414-01A-01D-1486-08	1175009	153362715	95887906	3	6051											
CYTIP	9595	broad.mit.edu	37	chr2	158300464	158300464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggagtaagagctataCgctggcccagcgcagaagtc	11	7	14	9	2	0	2	0	0	0	2	1	3	0	3	1	2	3	4	1	2	4	3	rs376714958		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:158300464C>T	ENST00000264192.3	-	1	190	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron|AC019201.1_ENST00000401235.1_RNA	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	23					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGAGCTATACGCTGGCCCAG	0.512																																						uc002tzj.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(67-69)gcG>gcA		Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.		C		0,4406		0,0,2203	169	154	159		69	-11.4	0	2		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYTIP	NM_004288.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		23/360	158300464	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300464C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.69G>A	2.37:g.158300464C>T						CYTIP_uc010zcl.1_Intron	p.A23A	NM_004288	NP_004279	O60759	CYTIP_HUMAN			0	141	-			23					B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.69G>A	CCDS2204.1																																																																																				0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		T	158300464	C	T	158300464	2	4	91	1	0	0	0	0	0	0	0	1	4207	523	19	1		1	CYTIP	2	158300464	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		158300464	84898909	4	6052											
SGOL2	151246	broad.mit.edu	37	chr2	201434569	201434569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaaaatgtatatggtttAgatgattcagaacatatttc	16	15	6	4	0	2	3	2	1	0	2	3	3	2	3	0	1	1	2	0	1	8	7			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:201434569A>G	ENST00000357799.4	+	6	755	c.657A>G	c.(655-657)ttA>ttG	p.L219L	SGOL2_ENST00000409203.3_Silent_p.L219L	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	219					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATATGGTTTAGATGATTCAG	0.303																																						uc002uvw.2																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(655-657)ttA>ttG		Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.							92	93	93					2																	201434569		1799	4064	5863	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434569A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.657A>G	2.37:g.201434569A>G						SGOL2_uc002uvv.4_Silent_p.L219L|SGOL2_uc010zhd.1_Silent_p.L219L|SGOL2_uc010zhe.1_Silent_p.L219L	p.L219L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			5	770	+			219					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.657A>G	CCDS42796.1																																																																																				0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201434569	A	G	201434569	2	3	91	1	0	0	0	0	0	0	0	1	14217	417	15	4		4	SGOL2	2	201434569	Silent	SNP	A	TCGA-06-5414-01A-01D-1486-08	43134105	201434569	41764804	5	6053											
COL4A3	1285	broad.mit.edu	37	chr2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggacctcaagggggaaaAgggagacaagggagcaatgg	15	2	18	6	0	1	1	1	0	0	1	1	5	1	4	1	6	1	2	1	6	5	0			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228118844A>G	ENST00000396578.3	+	14	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	261	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433																																						uc002vom.2																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(781-783)aAg>aGg		Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.							102	109	107					2																	228118844		1888	4116	6004	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118844A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.782A>G	2.37:g.228118844A>G	ENSP00000379823:p.Lys261Arg					BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	p.K261R	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	944	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	261			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.782A>G	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515591	0.64634	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.88509	-2.39	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000023	D	0.90841	0.7123	L	0.39566	1.225	0.34362	D	0.691052	D;D;D;D	0.89917	0.996;0.998;1.0;0.997	D;D;D;D	0.78314	0.955;0.969;0.991;0.95	D	0.92550	0.6049	10	0.36615	T	0.2	.	11.9828	0.53129	1.0:0.0:0.0:0.0	.	261;261;261;261	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	R	261	ENSP00000379823:K261R	ENSP00000323334:K261R	K	+	2	0	COL4A3	227827088	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	4.247000	0.58750	2.088000	0.63022	0.383000	0.25322	AAG		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		G	228118844	A	G	228118844	3	3	91	1	0	0	0	0	1	0	0	0	3691	72	3	4	836	4	COL4A3	2	228118844	Missense_Mutation	SNP	A	TCGA-06-5414-01A-01D-1486-08	26684275	228118844	15080529	6	6054											
SPHKAP	80309	broad.mit.edu	37	chr2	228884217	228884217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctggactctgaacaacGacgattttggggagctcatt	10	11	10	10	2	3	1	1	1	2	0	3	5	3	3	1	3	3	1	1	3	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228884217G>A	ENST00000392056.3	-	7	1399	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_ENST00000344657.5_Silent_p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	451						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507																																						uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1351-1353)gtC>gtT		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							100	98	99					2																	228884217		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228884217G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1353C>T	2.37:g.228884217G>A						SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	1400	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	451					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.1353C>T	CCDS46537.1																																																																																				0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228884217	G	A	228884217	2	1	91	1	0	0	0	0	0	0	0	1	15047	1045	37	2		2	SPHKAP	2	228884217	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	765373	228884217	14315156	7	6055											
DPPA4	55211	broad.mit.edu	37	chr3	109050752	109050752	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttcaattgttggcacCaggcccgcagaatgtcccgg	8	9	11	13	2	2	1	2	0	0	1	3	1	3	1	3	3	1	4	3	3	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:109050752C>T	ENST00000335658.6	-	3	359	c.305G>A	c.(304-306)tGg>tAg	p.W102*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	102					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGTTGGCACCAGGCCCGCAG	0.532																																						uc003dxq.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(304-306)tGg>tAg		Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.							133	130	131					3																	109050752		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109050752C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.305G>A	3.37:g.109050752C>T	ENSP00000335306:p.Trp102*					DPPA4_uc011bho.2_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	p.W102*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			2	360	-			102					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.305G>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486447	0.63962	.	.	ENSG00000121570	ENST00000335658	.	.	.	4.76	4.76	0.60689	.	0.000000	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.89	13.5262	0.61597	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	.	W	-	2	0	DPPA4	110533442	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	3.118000	0.50414	2.650000	0.89964	0.650000	0.86243	TGG		0.532	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		T	109050752	C	T	109050752	4	4	91	1	0	0	0	0	0	1	0	0	4736	595	21	3	629	3	DPPA4	3	109050752	Nonsense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		109050752	88971678	8	6056											
FNDC3B	64778	broad.mit.edu	37	chr3	172096080	172096080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttatttcaatctacagagGacccagccacacctacaagg	13	9	7	12	0	2	1	1	0	1	1	2	2	2	2	3	2	3	1	3	2	5	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:172096080G>A	ENST00000336824.4	+	24	3128	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E	FNDC3B_ENST00000415807.2_Missense_Mutation_p.G1010E|FNDC3B_ENST00000416957.1_Missense_Mutation_p.G1010E	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1010	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCTACAGAGGACCCAGCCAC	0.448																																						uc003fhy.3																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3028-3030)gGa>gAa		Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.							75	72	73					3																	172096080		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096080G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3029G>A	3.37:g.172096080G>A	ENSP00000338523:p.Gly1010Glu					FNDC3B_uc003fhz.4_Missense_Mutation_p.G1010E	p.G1010E	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	23	3201	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1010			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3029G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900541	0.92035	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56275	0.47;0.47;0.47	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85212	0.1021	10	0.87932	D	0	-16.0796	19.0873	0.93209	0.0:0.0:1.0:0.0	.	1010	Q53EP0	FND3B_HUMAN	E	1010	ENSP00000411242:G1010E;ENSP00000338523:G1010E;ENSP00000389094:G1010E	ENSP00000338523:G1010E	G	+	2	0	FNDC3B	173578774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.447000	0.97595	2.508000	0.84585	0.655000	0.94253	GGA		0.448	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		A	172096080	G	A	172096080	3	1	91	1	0	0	0	0	1	0	0	0	5970	1174	41	3	3119	3	FNDC3B	3	172096080	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	63045328	172096080	25926350	9	6057											
CPZ	8532	broad.mit.edu	37	chr4	8621243	8621243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggagcccgacccgctcCgggcgcgcaggcagccctcg	5	2	14	20	7	0	0	0	0	0	0	2	2	1	1	5	3	2	3	5	3	0	0	rs143690050		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:8621243C>T	ENST00000360986.4	+	11	2032	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	CPZ_ENST00000429646.2_Missense_Mutation_p.R228W|CPZ_ENST00000315782.6_Missense_Mutation_p.R609W|CPZ_ENST00000382480.2_Missense_Mutation_p.R483W	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	620					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGACCCGCTCCGGGCGCGCAG	0.667																																						uc003glm.3																			0		p.R620L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1858-1860)Cgg>Tgg		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	30	33	32		1858,1447,1825	0.1	0	4	dbSNP_134	32	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	101,101,101	0,3,6495	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	620/653,483/516,609/642	8621243	3,12993	2200	4298	6498	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621243C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1858C>T	4.37:g.8621243C>T	ENSP00000354255:p.Arg620Trp					CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R609W|CPZ_uc003gln.3_Missense_Mutation_p.R483W	p.R620W	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN			10	2032	+			620					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1858C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748734	0.49257	2.27E-4	2.33E-4	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.58797	0.63;2.01;0.31;1.88	4.54	0.0466	0.14256	.	1.370110	0.05028	U	0.474192	T	0.53222	0.1783	L	0.36672	1.1	0.09310	N	1	D;D	0.65815	0.995;0.985	P;B	0.50708	0.648;0.332	T	0.46076	-0.9217	10	0.72032	D	0.01	-21.2162	3.3996	0.07319	0.0993:0.3229:0.4263:0.1515	.	609;620	Q66K79-2;Q66K79	.;CBPZ_HUMAN	W	620;483;609;228	ENSP00000354255:R620W;ENSP00000371920:R483W;ENSP00000315074:R609W;ENSP00000403981:R228W	ENSP00000315074:R609W	R	+	1	2	CPZ	8672143	0.212000	0.23540	0.036000	0.18154	0.015000	0.08874	1.604000	0.36804	0.312000	0.23038	-0.502000	0.04539	CGG		0.667	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8621243	C	T	8621243	3	4	91	1	0	0	0	0	1	0	0	0	3839	643	23	2	1900	2	CPZ	4	8621243	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		8621243	182533033	10	6058											
ADH1C	126	broad.mit.edu	37	chr4	100268910	100268910	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtatttcaccttaatgcGaacttcatgagccttaggag	13	12	8	8	1	2	1	2	1	0	0	2	3	2	2	2	1	3	1	2	1	5	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:100268910G>A	ENST00000510055.1	-	0	286				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	ACCTTAATGCGAACTTCATGA	0.338																																						uc021xqi.1																			0													Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						70	67	68					4																	100268910		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268910G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268910G>A								NM_000669		P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	1		-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.197C>T																																																																																					0.338	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		A	100268910	G	A	100268910	1	1	91	0	1	0	0	0	0	0	0	0	309	1058	37	2		2	ADH1C	4	100268910	RNA	SNP	G	TCGA-06-5414-01A-01D-1486-08	91647667	100268910	90885366	11	6059											
LRBA	987	broad.mit.edu	37	chr4	151791721	151791725	+	Frame_Shift_Del	DEL	TTATG	TTATG	-																															aatcaggatctggatgctgtTtatgtatcacctgagtacca																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:151791721_151791725delTTATG	ENST00000357115.3	-	20	2644_2648	c.2401_2405delCATAA	c.(2401-2406)cataaafs	p.HK801fs	LRBA_ENST00000507224.1_Frame_Shift_Del_p.HK801fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.HK801fs|LRBA_ENST00000535741.1_Frame_Shift_Del_p.HK801fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	801						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGATGCTGTTTATGTATCACCTGA	0.312																																						uc010ipj.3																			0		p.I800V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2401-2406)cataaafs		Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151791721_151791725delTTATG	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2401_2405delCATAA	4.37:g.151791721_151791725delTTATG	ENSP00000349629:p.His801fs					LRBA_uc003ilu.4_Frame_Shift_Del_p.H801fs	p.H801fs	NM_006726	NP_006717	P50851	LRBA_HUMAN			19	2645_2649	-	all_hematologic(180;0.151)		801					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	37	c.2401_2405delCATAA	CCDS3773.1																																																																																				0.312	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			-	151791725	TTATG	-	151791721	7	5	91	1	0	1	0	1	0	0	0	0	8931	1841	64	0	6342	0	LRBA	4	151791721	Frame_Shift_Del	DEL	TTATG	TCGA-06-5414-01A-01D-1486-08	51522811	151791721	39362555	12	6060											
DCHS2	54798	broad.mit.edu	37	chr4	155249289	155249289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattatttccttcatcaGgatcctttgcaaacacagtt	10	15	5	11	0	2	0	2	0	0	0	4	1	4	1	2	1	3	3	2	1	2	5	rs111557030	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:155249289G>A	ENST00000357232.4	-	12	2608	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P1325L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	870	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P870H(1)|p.P1325H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348													G|||	10	0.00199681	0	0.0058	5008	,	,		16241	0		0.006	False		,,,				2504	0					uc003inw.2																			2	Substitution - Missense(2)	p.P870H(2)|p.P1325H(1)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2608-2610)cCt>cTt		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO	11,4395	17.9+/-39.9	0,11,2192	130	129	129		3974,2609	2.1	0.9	4	dbSNP_132	129	93,8507	51.5+/-111.7	0,93,4207	yes	missense,missense	DCHS2	NM_001142552.1,NM_017639.3	98,98	0,104,6399	AA,AG,GG		1.0814,0.2497,0.7996	benign,benign	1325/1370,870/2917	155249289	104,12902	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155249289G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2609C>T	4.37:g.155249289G>A	ENSP00000349768:p.Pro870Leu					DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	p.P870L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	11	2609	-	all_hematologic(180;0.208)	Renal(120;0.0854)	870			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2609C>T	CCDS3785.1	5	0.0022893772893772895	0	0.0	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	3.382	-0.126215	0.06795	0.002497	0.010814	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60672	0.17;0.17	5.67	2.07	0.26955	Cadherin (4);Cadherin-like (1);	0.662303	0.13901	N	0.354883	T	0.23806	0.0576	N	0.05124	-0.11	0.53688	D	0.99997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.04090	-1.0978	10	0.20046	T	0.44	.	7.9879	0.30222	0.6942:0.0:0.3058:0.0	.	1325;870	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	870;1325;1325	ENSP00000349768:P870L;ENSP00000345062:P1325L	ENSP00000345062:P1325L	P	-	2	0	DCHS2	155468739	0.995000	0.38212	0.936000	0.37596	0.995000	0.86356	1.343000	0.33930	0.451000	0.26802	-0.302000	0.09304	CCT		0.348	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155249289	G	A	155249289	3	1	91	1	0	0	0	0	1	0	0	0	4288	1000	35	3	6293	3	DCHS2	4	155249289	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	3457568	155249289	35904987	13	6061											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146447	5146447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctttattgtgcagaCgttgggaaagacaggcacta	10	11	12	8	1	0	2	0	0	0	2	1	3	1	3	1	3	1	4	1	3	3	5	rs558198391		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5146447C>T	ENST00000274181.7	+	3	518	c.380C>T	c.(379-381)aCg>aTg	p.T127M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T127M|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	127					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTGTGCAGACGTTGGGAAAG	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		18082	0		0	False		,,,				2504	0					uc003jdl.3																			0		p.Q126*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(379-381)aCg>aTg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							98	99	99					5																	5146447		1954	4141	6095	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146447C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.380C>T	5.37:g.5146447C>T	ENSP00000274181:p.Thr127Met					ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	p.T127M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			2	518	+			127					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.380C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197707	0.22037	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06933	3.24;3.24	5.74	2.9	0.33743	Peptidase M12B, propeptide (1);	0.208532	0.40554	N	0.001069	T	0.07773	0.0195	M	0.62154	1.92	0.42064	D	0.991173	P;B;B	0.44006	0.824;0.383;0.437	B;B;B	0.32583	0.13;0.091;0.148	T	0.26292	-1.0107	10	0.39692	T	0.17	.	8.8385	0.35126	0.0:0.7264:0.1277:0.1459	.	127;127;127	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	M	127	ENSP00000274181:T127M;ENSP00000421631:T127M	ENSP00000274181:T127M	T	+	2	0	ADAMTS16	5199447	0.981000	0.34729	0.694000	0.30210	0.338000	0.28826	2.407000	0.44565	0.848000	0.35191	0.563000	0.77884	ACG		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5146447	C	T	5146447	3	4	91	1	0	0	0	0	1	0	0	0	261	536	19	1	390	1	ADAMTS16	5	5146447	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		5146447	175768813	14	6062											
ADAMTS16	170690	broad.mit.edu	37	chr5	5190212	5190212	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgactggtctggatatatgTtcctggaagaatgagccctg	9	12	12	8	0	1	3	0	2	1	1	2	5	2	5	2	3	1	1	2	3	4	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5190212T>C	ENST00000274181.7	+	7	1314	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	ADAMTS16_ENST00000511368.1_Silent_p.C392C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGATATATGTTCCTGGAAGA	0.527																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1174-1176)tgT>tgC		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							144	142	143					5																	5190212		2043	4184	6227	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190212T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1176T>C	5.37:g.5190212T>C						ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	p.C392C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			6	1314	+			392			Peptidase M12B.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1176T>C	CCDS43299.1																																																																																				0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5190212	T	C	5190212	2	2	91	1	0	0	0	0	0	0	0	1	261	1731	60	4		4	ADAMTS16	5	5190212	Silent	SNP	T	TCGA-06-5414-01A-01D-1486-08	43765	5190212	175725048	15	6063											
RASGRF2	5924	broad.mit.edu	37	chr5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgccccagatccgttatgCcagcgtggagcgcctcttgg	6	9	13	13	3	1	1	0	0	1	1	2	2	2	2	5	2	4	1	5	2	1	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483																																						uc003kha.2																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1924-1926)gCc>gTc		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							195	191	193					5																	80408515		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408515C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1925C>T	5.37:g.80408515C>T	ENSP00000265080:p.Ala642Val					RASGRF2_uc011ctn.2_Non-coding_Transcript	p.A642V	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	13	1975	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	642			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1925C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456331	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.55588	0.51	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	642	O14827	RGRF2_HUMAN	V	642	ENSP00000265080:A642V	ENSP00000265080:A642V	A	+	2	0	RASGRF2	80444271	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.758000	0.85224	2.752000	0.94435	0.558000	0.71614	GCC		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		T	80408515	C	T	80408515	3	4	91	1	0	0	0	0	1	0	0	0	13073	739	26	3	1979	3	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	75218303	80408515	100506745	16	6064											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741338	140741338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcgctcagcgccaacGtgagcctgcgcgtgttagtg	5	7	14	15	7	1	1	1	1	0	0	1	1	1	1	3	0	4	2	3	0	2	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:140741338G>A	ENST00000522605.1	+	1	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCCAACGTGAGCCTGCG	0.682																																						uc003ljs.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1636-1638)Gtg>Atg		Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.							30	37	35					5																	140741338		2090	4212	6302	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741338G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1636G>A	5.37:g.140741338G>A	ENSP00000429018:p.Val546Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.V546M|PCDHGC5_uc011das.2_5'Flank	p.V546M	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1636	+			548			Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1636G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729602	0.48833	.	.	ENSG00000253910	ENST00000522605	T	0.02050	4.48	5.11	5.11	0.69529	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.08133	0.0203	M	0.76170	2.325	0.25997	N	0.982172	D;D	0.59767	0.979;0.986	P;P	0.53146	0.579;0.719	T	0.08310	-1.0728	9	0.66056	D	0.02	.	11.9814	0.53121	0.0813:0.0:0.9187:0.0	.	546;546	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	546	ENSP00000429018:V546M	ENSP00000429018:V546M	V	+	1	0	PCDHGB2	140721522	0.038000	0.19896	1.000000	0.80357	0.230000	0.25150	1.548000	0.36201	2.528000	0.85240	0.467000	0.42956	GTG		0.682	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140741338	G	A	140741338	3	1	91	1	0	0	0	0	1	0	0	0	11563	1145	40	1	1638	1	PCDHGB2	5	140741338	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	60332823	140741338	40173922	17	6065											
TIMD4	91937	broad.mit.edu	37	chr5	156346519	156346519	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatgctgcacgtcattGaggacatttttactatctcc	8	15	6	12	1	2	1	1	1	1	0	4	2	3	2	2	1	3	2	2	1	2	6			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:156346519G>T	ENST00000274532.2	-	9	1142	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L	TIMD4_ENST00000406964.1_Silent_p.L64L|TIMD4_ENST00000407087.3_Silent_p.L334L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	362						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACGTCATTGAGGACATTTT	0.438																																						uc003lwh.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(1084-1086)ctC>ctA		Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.							173	149	158					5																	156346519		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156346519G>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.1086C>A	5.37:g.156346519G>T						TIMD4_uc010jii.2_Silent_p.L334L|TIMD4_uc003lwg.2_Silent_p.L64L	p.L362L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1143	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	362					B5MCL9	Silent	SNP	ENST00000274532.2	37	c.1086C>A	CCDS4332.1																																																																																				0.438	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		T	156346519	G	T	156346519	2	4	91	1	0	0	0	0	0	0	0	1	15900	1277	45	5		5	TIMD4	5	156346519	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	15605181	156346519	24568741	18	6066											
GABRA6	2559	broad.mit.edu	37	chr5	161116076	161116076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaatctggacgcctgacaCctttttcagaaatggtaaaa	15	11	7	8	1	2	2	1	1	1	1	2	3	2	3	2	2	0	1	2	2	5	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:161116076C>A	ENST00000274545.5	+	4	780	c.347C>A	c.(346-348)aCc>aAc	p.T116N	GABRA6_ENST00000523217.1_Missense_Mutation_p.T106N|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	116					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACGCCTGACACCTTTTTCAGA	0.418										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(346-348)aCc>aAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						67	67	67					5																	161116076		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116076C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.347C>A	5.37:g.161116076C>A	ENSP00000274545:p.Thr116Asn	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.T116N	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	685	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	116					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.347C>A	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699257|4.699257	0.88830|0.88830	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.80824	.|-1.42;-1.42;-1.42;-1.42	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93549|0.93549	0.7941|0.7941	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94734|0.94734	0.7912|0.7912	5|10	.|0.72032	.|D	.|0.01	.|.	20.0965|20.0965	0.97849|0.97849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|116	.|Q16445	.|GBRA6_HUMAN	T|N	56|116;106;63;11	.|ENSP00000274545:T116N;ENSP00000430527:T106N;ENSP00000430212:T63N;ENSP00000427989:T11N	.|ENSP00000274545:T116N	P|T	+|+	1|2	0|0	GABRA6|GABRA6	161048654|161048654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.684000|7.684000	0.84104|0.84104	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.418	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			A	161116076	C	A	161116076	3	1	91	1	0	0	0	0	1	0	0	0	6165	507	18	5	361	5	GABRA6	5	161116076	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	4769557	161116076	19799184	19	6067											
TMEM63B	55362	broad.mit.edu	37	chr6	44107303	44107303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgtgggcgtcctctcCgtaggcatcgtgctgcctgt	2	13	15	11	3	1	0	0	0	1	0	4	0	2	0	3	3	2	4	3	3	1	2	rs145356402		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:44107303C>T	ENST00000259746.9	+	7	690	c.507C>T	c.(505-507)tcC>tcT	p.S169S	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Silent_p.S169S			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	169					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.S169S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCGTCCTCTCCGTAGGCATCG	0.627																																						uc003owr.3																			1	Substitution - coding silent(1)	p.S169S(2)	pancreas(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(505-507)tcC>tcT		Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.		C		0,4406		0,0,2203	138	103	115		507	-2.1	0.8	6	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM63B	NM_018426.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/833	44107303	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44107303C>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.507C>T	6.37:g.44107303C>T						TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.3_Silent_p.S72S|TMEM63B_uc010jyz.3_5'Flank	p.S169S	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		6	571	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		169					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.507C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	1.912	-0.450533	0.04572	0.0	1.16E-4	ENSG00000137216	ENST00000371893	.	.	.	4.53	-2.07	0.07276	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33085	-0.9882	4	.	.	.	.	6.2324	0.20742	0.117:0.4254:0.0:0.4576	.	.	.	.	L	98	.	.	P	+	2	0	TMEM63B	44215281	0.000000	0.05858	0.825000	0.32803	0.041000	0.13682	-2.743000	0.00797	-0.720000	0.04935	0.561000	0.74099	CCG		0.627	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		T	44107303	C	T	44107303	2	4	91	1	0	0	0	0	0	0	0	1	16188	639	23	2		2	TMEM63B	6	44107303	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		44107303	127007764	20	6068											
VNN2	8875	broad.mit.edu	37	chr6	133078573	133078573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgggggtcttgacacGgaatccagttcacctgaggg	8	9	14	10	1	2	2	1	2	1	0	3	3	3	3	3	4	0	1	3	4	1	2	rs149351884		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:133078573G>A	ENST00000326499.6	-	2	450	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_ENST00000525270.1_Missense_Mutation_p.P56L|VNN2_ENST00000525289.1_Missense_Mutation_p.P109L|VNN2_ENST00000526192.1_5'UTR	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	109	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(325-327)cCg>cTg		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	80	85	84		326,326,167	5.3	1	6	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense,missense	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	109/300,109/521,56/468	133078573	1,13005	2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078573G>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.326C>T	6.37:g.133078573G>A	ENSP00000322276:p.Pro109Leu					VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L	p.P109L	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	1	337	-			109			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.326C>T	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505223	0.44558	2.27E-4	0.0	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536	D;D;D;D;D	0.94330	-2.95;-3.05;-2.88;-2.15;-3.4	5.27	5.27	0.74061	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000004	D	0.94716	0.8295	M	0.81497	2.545	0.54753	D	0.999981	D;P	0.67145	0.996;0.948	P;P	0.55871	0.786;0.67	D	0.94227	0.7473	10	0.48119	T	0.1	-8.3518	14.4979	0.67702	0.0728:0.0:0.9271:0.0	.	109;109	O95498-2;O95498	.;VNN2_HUMAN	L	109;56;109;109;56	ENSP00000322276:P109L;ENSP00000436822:P56L;ENSP00000436935:P109L;ENSP00000431451:P109L;ENSP00000434210:P56L	ENSP00000322276:P109L	P	-	2	0	VNN2	133120266	1.000000	0.71417	0.988000	0.46212	0.037000	0.13140	5.627000	0.67784	2.608000	0.88229	0.609000	0.83330	CCG		0.418	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			A	133078573	G	A	133078573	3	1	91	1	0	0	0	0	1	0	0	0	17180	1116	39	2	1260	2	VNN2	6	133078573	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	88971270	133078573	38036494	21	6069											
GRM3	2913	broad.mit.edu	37	chr7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagacaaactgcattgcccGcatcttcgatggggtcaaga	12	8	10	11	2	2	2	1	0	1	2	3	3	2	2	1	2	3	2	1	2	3	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:86468833G>A	ENST00000361669.2	+	4	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R540H|GRM3_ENST00000546348.1_Missense_Mutation_p.R260H|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	668					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCATTGCCCGCATCTTCGAT	0.537																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2002-2004)cGc>cAc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						114	107	109					7																	86468833		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468833G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2003G>A	7.37:g.86468833G>A	ENSP00000355316:p.Arg668His					GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.R540H|GRM3_uc010leh.3_Missense_Mutation_p.R260H	p.R668H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	3102	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		668					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2003G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593198	0.86953	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89746	-2.56;-2.56;-2.56	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96133	0.9094	10	0.87932	D	0	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	260;540;668	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	H	668;260;540	ENSP00000355316:R668H;ENSP00000444064:R260H;ENSP00000441407:R540H	ENSP00000355316:R668H	R	+	2	0	GRM3	86306769	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	CGC		0.537	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86468833	G	A	86468833	3	1	91	1	0	0	0	0	1	0	0	0	6798	1087	38	1	2013	1	GRM3	7	86468833	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		86468833	72669830	22	6070											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123821	99123821	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagagctacaatcagcgGgtgcacctcacccagcacca	12	4	11	14	1	2	1	2	0	0	1	2	2	2	2	3	2	5	3	3	2	3	1	rs578188356		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:99123821G>T	ENST00000394170.2	+	6	1409	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R	ZKSCAN5_ENST00000326775.5_Silent_p.R386R|ZKSCAN5_ENST00000451158.1_Silent_p.R386R	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAATCAGCGGGTGCACCTCA	0.537																																						uc003uqv.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1156-1158)cgG>cgT		Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.							110	104	106					7																	99123821		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123821G>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1158G>T	7.37:g.99123821G>T						ZKSCAN5_uc010lfx.3_Silent_p.R386R|ZKSCAN5_uc003uqw.3_Silent_p.R386R|ZKSCAN5_uc003uqx.3_Silent_p.R313R|ZKSCAN5_uc003uqy.3_Silent_p.R122R	p.R386R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			5	1282	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		386					A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.1158G>T	CCDS5667.1																																																																																				0.537	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		T	99123821	G	T	99123821	2	4	91	1	0	0	0	0	0	0	0	1	17687	1219	43	5		5	ZKSCAN5	7	99123821	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	12654988	99123821	60014842	23	6071											
KEL	3792	broad.mit.edu	37	chr7	142658590	142658590	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcttctggagtgctcTgtgggaggaaccaagaggtg	7	10	15	9	0	3	1	0	0	3	1	4	4	3	4	2	4	2	1	2	4	2	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:142658590T>C	ENST00000355265.2	-	3	556		c.e3-2		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAGTGCTCTGTGGGAGGAA	0.552																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.e3-1		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							15	16	16					7																	142658590		2198	4298	6496	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658590T>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.82-2A>G	7.37:g.142658590T>C							p.S28_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			3	292	-	Melanoma(164;0.059)		28					B2RBV4|Q96RS8|Q99885	Splice_Site	SNP	ENST00000355265.2	37	c.82_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	8.244	0.807549	0.16467	.	.	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543;ENST00000460479	.	.	.	4.53	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.42349	D	0.992364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0174	0.19611	0.0:0.2067:0.0:0.7933	.	.	.	.	.	-1	.	.	.	-	.	.	KEL	142368712	0.482000	0.25948	0.009000	0.14445	0.015000	0.08874	1.524000	0.35942	0.281000	0.22233	-0.379000	0.06801	.		0.552	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Intron	C	142658590	T	C	142658590	5	2	91	1	0	0	0	0	0	0	1	0	8142	1594	55	4	2186	4	KEL	7	142658590	Splice_Site	SNP	T	TCGA-06-5414-01A-01D-1486-08	43534769	142658590	16480073	24	6072											
DLC1	10395	broad.mit.edu	37	chr8	12956045	12956045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatacagagttgaggcttggCcgatgtgagctctggaaact	10	10	14	7	1	1	3	0	2	1	1	1	6	1	4	1	3	3	3	1	3	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:12956045C>T	ENST00000276297.4	-	10	3439	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	DLC1_ENST00000358919.2_Silent_p.R573R|DLC1_ENST00000510318.1_5'Flank|DLC1_ENST00000512044.2_Silent_p.R607R|DLC1_ENST00000520226.1_Silent_p.R499R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1010					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTTGGCCGATGTGAGC	0.468																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3028-3030)cgG>cgA		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							86	76	80					8																	12956045		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956045C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3030G>A	8.37:g.12956045C>T						DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	p.R1010R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	3474	-			1010					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3030G>A	CCDS5989.1																																																																																				0.468	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12956045	C	T	12956045	2	4	91	1	0	0	0	0	0	0	0	1	4550	726	26	3		3	DLC1	8	12956045	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		12956045	133407977	25	6073											
TUSC3	7991	broad.mit.edu	37	chr8	15519787	15519787	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatctataacaagactggTtgggccatggtgtctctggt	8	14	11	8	0	3	1	1	0	2	1	4	1	3	1	1	4	1	1	1	4	3	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:15519787T>G	ENST00000503731.1	+	5	838	c.690T>G	c.(688-690)ggT>ggG	p.G230G	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Silent_p.G230G|TUSC3_ENST00000509380.1_Silent_p.G230G|TUSC3_ENST00000382020.4_Silent_p.G230G	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	230					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACAAGACTGGTTGGGCCATGG	0.368																																						uc003wwt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(688-690)ggT>ggG		Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.							198	192	194					8																	15519787		2203	4300	6503	SO:0001819	synonymous_variant	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15519787T>G	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.690T>G	8.37:g.15519787T>G						TUSC3_uc003wwu.3_Silent_p.G230G	p.G230G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	4	1034	+			230					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	c.690T>G	CCDS5994.1																																																																																				0.368	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		G	15519787	T	G	15519787	2	3	91	1	0	0	0	0	0	0	0	1	16775	1712	60	5		5	TUSC3	8	15519787	Silent	SNP	T	TCGA-06-5414-01A-01D-1486-08	2563742	15519787	130844235	26	6074											
SFTPC	649	broad.mit.edu	37	chr8	22020183	22020183	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtcctcatcGtcgtggtgattgtgggagcc	3	13	18	7	2	1	1	1	1	0	0	4	2	2	2	2	6	1	0	2	6	0	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22020183G>A	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.V47I|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.V47I|SFTPC_ENST00000521315.1_Missense_Mutation_p.V47I|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000318561.3_Missense_Mutation_p.V47I	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTCCTCATCGTCGTGGTGAT	0.597																																						uc003xaw.4																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(286-288)Gtc>Atc		Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.							114	123	120					8																	22020183		2129	4230	6359	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020183G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020183G>A	Exception_encountered					SFTPC_uc003xax.4_Missense_Mutation_p.V47I|SFTPC_uc003xay.4_Missense_Mutation_p.V47I|SFTPC_uc003xaz.3_Missense_Mutation_p.V47I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	p.V96I	NM_001172357	NP_001165828	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	989	+			47			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.286G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793248	0.70452	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000522109;ENST00000518615	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	4.41	4.41	0.53225	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.37219	N	0.002191	D	0.95404	0.8508	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.995;0.995;0.993;0.995;0.993	D	0.93646	0.6969	10	0.21014	T	0.42	-9.2479	12.875	0.57986	0.0:0.0:1.0:0.0	.	47;47;47;47;47	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	I	47	ENSP00000316152:V47I;ENSP00000430410:V47I;ENSP00000407931:V47I;ENSP00000429496:V47I;ENSP00000428817:V47I	ENSP00000316152:V47I	V	+	1	0	SFTPC	22076128	1.000000	0.71417	0.846000	0.33378	0.696000	0.40369	5.608000	0.67654	2.164000	0.68074	0.563000	0.77884	GTC		0.597	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		A	22020183	G	A	22020183	1	1	91	0	1	0	0	0	0	0	0	0	14192	1145	40	1		1	SFTPC	8	22020183	5'Flank	SNP	G	TCGA-06-5414-01A-01D-1486-08	6500396	22020183	124343839	27	6075											
PHYHIP	9796	broad.mit.edu	37	chr8	22079267	22079267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagcggccgtagggggagtCctgcgggggctggcccgtgt	3	6	20	12	4	0	0	0	0	0	0	1	1	1	1	4	6	2	2	4	6	1	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22079267C>G	ENST00000321613.3	-	6	1048	c.592G>C	c.(592-594)Gac>Cac	p.D198H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.D198H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	198										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TAGGGGGAGTCCTGCGGGGGC	0.627																																						uc003xbk.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(592-594)Gac>Cac		Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.							14	20	18					8																	22079267		1960	4137	6097	SO:0001583	missense	9796							g.chr8:22079267C>G	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.592G>C	8.37:g.22079267C>G	ENSP00000320017:p.Asp198His					PHYHIP_uc003xbj.4_Missense_Mutation_p.D198H	p.D198H	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1286	-			198					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.592G>C	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443210	0.63067	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.32515	1.45;1.45	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.53729	1.69	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.35475	-0.9787	10	0.25751	T	0.34	-41.8378	16.8934	0.86093	0.0:1.0:0.0:0.0	.	198	Q92561	PHYIP_HUMAN	H	198;198;105;150	ENSP00000320017:D198H;ENSP00000415491:D198H	ENSP00000320017:D198H	D	-	1	0	PHYHIP	22135212	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.715000	0.84713	2.352000	0.79861	0.555000	0.69702	GAC		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		G	22079267	C	G	22079267	3	3	91	1	0	0	0	0	1	0	0	0	11866	855	30	5	404	5	PHYHIP	8	22079267	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	59084	22079267	124284755	28	6076											
PCMTD1	115294	broad.mit.edu	37	chr8	52733107	52733107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctgaggaataagctgaTtacccacaaatacgtaagtg	15	8	11	7	1	0	2	0	2	0	0	0	4	0	3	1	2	3	3	1	2	6	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:52733107T>C	ENST00000360540.5	-	7	1284	c.878A>G	c.(877-879)aAt>aGt	p.N293S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.N293S|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N217S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	293						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATAAGCTGATTACCCACAAA	0.408																																						uc003xqx.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(877-879)aAt>aGt		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							187	182	184					8																	52733107		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733107T>C		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.878A>G	8.37:g.52733107T>C	ENSP00000353739:p.Asn293Ser					PCMTD1_uc011ldm.2_Missense_Mutation_p.N163S|PCMTD1_uc011ldn.2_Missense_Mutation_p.N105S|PCMTD1_uc010lya.3_Missense_Mutation_p.N217S	p.N293S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1219	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	293					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.878A>G	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784013	0.70222	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.60455	1.87	0.80722	D	1	D;D;B	0.71674	0.997;0.998;0.017	D;D;B	0.80764	0.985;0.994;0.018	T	0.55412	-0.8145	10	0.27785	T	0.31	-7.6815	16.4473	0.83942	0.0:0.0:0.0:1.0	.	163;217;293	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	293;217;293	ENSP00000353739:N293S;ENSP00000444026:N217S;ENSP00000428099:N293S	ENSP00000353739:N293S	N	-	2	0	PCMTD1	52895660	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.244000	0.78228	2.281000	0.76405	0.533000	0.62120	AAT		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733107	T	C	52733107	3	2	91	1	0	0	0	0	1	0	0	0	11586	1493	52	4	199	4	PCMTD1	8	52733107	Missense_Mutation	SNP	T	TCGA-06-5414-01A-01D-1486-08	30653840	52733107	93630915	29	6077											
KCNB2	9312	broad.mit.edu	37	chr8	73848231	73848231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgctttgtctctcaataCgctgccggagctgcaggaaa	9	11	10	11	2	2	0	1	0	1	0	3	2	2	2	1	2	5	4	1	2	3	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:73848231C>T	ENST00000523207.1	+	3	1229	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCTCTCAATACGCTGCCGGAG	0.478																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(640-642)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							206	195	198					8																	73848231		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848231C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.641C>T	8.37:g.73848231C>T	ENSP00000430846:p.Thr214Met						p.T214M	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1229	+	Breast(64;0.137)		214					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.641C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873342	0.91664	.	.	ENSG00000182674	ENST00000523207	D	0.97791	-4.54	5.87	5.87	0.94306	.	0.000000	0.47093	D	0.000258	D	0.99254	0.9740	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98886	1.0771	10	0.87932	D	0	.	20.2055	0.98275	0.0:1.0:0.0:0.0	.	214	Q92953	KCNB2_HUMAN	M	214	ENSP00000430846:T214M	ENSP00000430846:T214M	T	+	2	0	KCNB2	74010785	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	ACG		0.478	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73848231	C	T	73848231	3	4	91	1	0	0	0	0	1	0	0	0	8013	536	19	1	647	1	KCNB2	8	73848231	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	21115124	73848231	72515791	30	6078											
KCNK18	338567	broad.mit.edu	37	chr10	118969028	118969028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggctacatctaccccGtcaccaggcttggcaagtac	9	9	9	14	1	2	0	1	0	1	0	2	0	2	0	3	3	3	5	3	3	5	5	rs141958329		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr10:118969028G>A	ENST00000334549.1	+	3	373	c.373G>A	c.(373-375)Gtc>Atc	p.V125I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	125					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCTACCCCGTCACCAGGCT	0.507																																						uc010qsr.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(373-375)Gtc>Atc		Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.		G	ILE/VAL	0,4406		0,0,2203	198	197	197		373	1.2	0.2	10	dbSNP_134	197	3,8597	2.2+/-6.3	0,3,4297	yes	missense	KCNK18	NM_181840.1	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	125/385	118969028	3,13003	2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969028G>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.373G>A	10.37:g.118969028G>A	ENSP00000334650:p.Val125Ile						p.V125I	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	373	+		Colorectal(252;0.19)	125					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.373G>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220205	0.39201	0.0	3.49E-4	ENSG00000186795	ENST00000334549	T	0.25085	1.82	4.65	1.21	0.21127	Ion transport 2 (1);	0.292074	0.31673	N	0.007248	T	0.17662	0.0424	L	0.45698	1.435	0.18873	N	0.999983	P	0.40431	0.717	B	0.33454	0.164	T	0.12502	-1.0545	10	0.36615	T	0.2	.	9.8852	0.41257	0.2871:0.0:0.7129:0.0	.	125	Q7Z418	KCNKI_HUMAN	I	125	ENSP00000334650:V125I	ENSP00000334650:V125I	V	+	1	0	KCNK18	118959018	0.980000	0.34600	0.166000	0.22797	0.896000	0.52359	1.573000	0.36472	0.496000	0.27904	0.655000	0.94253	GTC		0.507	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		A	118969028	G	A	118969028	3	1	91	1	0	0	0	0	1	0	0	0	8065	1145	40	1	383	1	KCNK18	10	118969028	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		118969028	16565719	31	6079											
ZNF215	7762	broad.mit.edu	37	chr11	6964441	6964441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaacctgaattcattgcGtaaaggtggtttctatatgt	11	15	10	5	1	2	1	1	1	1	0	2	2	2	2	1	3	2	2	1	3	7	7	rs192913397	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:6964441G>A	ENST00000278319.5	+	5	1199	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000529903.1_Missense_Mutation_p.R204H|ZNF215_ENST00000414517.2_Missense_Mutation_p.R204H	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	204	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATTCATTGCGTAAAGGTGGT	0.418													G|||	4	0.000798722	0	0	5008	,	,		20950	0.001		0	False		,,,				2504	0.0031					uc001mey.3																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(610-612)cGt>cAt		Homo sapiens zinc finger protein 215 (ZNF215), mRNA.							164	155	158					11																	6964441		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6964441G>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.611G>A	11.37:g.6964441G>A	ENSP00000278319:p.Arg204His					ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	p.R204H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	4	1199	+			204			KRAB.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.611G>A	CCDS7775.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.556	0.103245	0.08731	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.00808	5.67;5.67;5.67	4.38	-7.21	0.01490	Krueppel-associated box (3);	0.981570	0.08259	N	0.973337	T	0.00468	0.0015	N	0.00926	-1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.52997	-0.8500	10	0.52906	T	0.07	1.927	13.9477	0.64096	0.8087:0.0:0.1913:0.0	.	204;204	Q96C84;Q9UL58	.;ZN215_HUMAN	H	204	ENSP00000278319:R204H;ENSP00000393202:R204H;ENSP00000432306:R204H	ENSP00000278319:R204H	R	+	2	0	ZNF215	6921017	0.765000	0.28485	0.008000	0.14137	0.243000	0.25628	-0.274000	0.08537	-1.777000	0.01283	-0.345000	0.07892	CGT		0.418	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			A	6964441	G	A	6964441	3	1	91	1	0	0	0	0	1	0	0	0	17768	1145	40	1	621	1	ZNF215	11	6964441	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		6964441	128042075	32	6080											
OLFML1	283298	broad.mit.edu	37	chr11	7509544	7509544	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgactacatacaataccttCgagaggctgacgagtgcatc	12	10	9	10	2	0	3	0	2	0	1	2	5	0	3	1	1	4	2	1	1	4	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:7509544C>T	ENST00000329293.3	+	2	710	c.316C>T	c.(316-318)Cga>Tga	p.R106*	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Nonsense_Mutation_p.R106*|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	106						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAATACCTTCGAGAGGCTGA	0.478																																						uc001mfi.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(316-318)Cga>Tga		Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.							116	99	105					11																	7509544		2201	4296	6497	SO:0001587	stop_gained	283298					extracellular region		g.chr11:7509544C>T	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.316C>T	11.37:g.7509544C>T	ENSP00000332511:p.Arg106*					BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Nonsense_Mutation_p.R106*	p.R106*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	1	823	+			106					B4DP03|Q569G4	Nonsense_Mutation	SNP	ENST00000329293.3	37	c.316C>T	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930601	0.92389	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	.	.	.	5.77	2.58	0.30949	.	0.237632	0.33057	N	0.005331	.	.	.	.	.	.	0.26477	N	0.975178	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4339	0.50058	0.5594:0.4406:0.0:0.0	.	.	.	.	X	106	.	ENSP00000332511:R106X	R	+	1	2	OLFML1	7466120	0.204000	0.23447	0.067000	0.19924	0.671000	0.39405	1.701000	0.37825	0.757000	0.33036	0.655000	0.94253	CGA		0.478	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		T	7509544	C	T	7509544	4	4	91	1	0	0	0	0	0	1	0	0	10856	876	31	2	322	2	OLFML1	11	7509544	Nonsense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	545103	7509544	127496972	33	6081											
OR4P4	81300	broad.mit.edu	37	chr11	55406751	55406751	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgtcaaatactcctGaaaagaaatcaacttttctg	13	14	7	7	0	3	2	2	1	1	1	4	2	4	2	1	1	2	1	1	1	6	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:55406751G>T	ENST00000314612.2	+	1	918	c.918G>T	c.(916-918)ctG>ctT	p.L306L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L306L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398																																						uc010rij.2																			1	Substitution - coding silent(1)	p.L306L(2)	lung(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(916-918)ctG>ctT		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							117	116	116					11																	55406751		2177	3987	6164	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406751G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.918G>T	11.37:g.55406751G>T							p.L306L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	918	+			306						Silent	SNP	ENST00000314612.2	37	c.918G>T	CCDS31504.1																																																																																				0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		T	55406751	G	T	55406751	2	4	91	1	0	0	0	0	0	0	0	1	11080	1277	45	5		5	OR4P4	11	55406751	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	47897207	55406751	79599765	34	6082											
LRRC55	219527	broad.mit.edu	37	chr11	56950136	56950136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagtggctgcgaaacCggatccagcgctgtacagca	10	7	13	11	3	0	1	0	1	0	0	1	3	1	2	2	2	6	5	2	2	3	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:56950136C>T	ENST00000497933.1	+	1	916	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	227	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCGAAACCGGATCCAGCG	0.617																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(769-771)Cgg>Tgg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							74	70	71					11																	56950136		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950136C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.769C>T	11.37:g.56950136C>T	ENSP00000419542:p.Arg257Trp						p.R257W	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	916	+			227			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.769C>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706638	0.68615	.	.	ENSG00000183908	ENST00000497933	T	0.02446	4.29	5.53	3.46	0.39613	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.53938	D	0.000050	T	0.07052	0.0179	L	0.39245	1.2	0.35280	D	0.781279	D	0.55800	0.973	P	0.57425	0.82	T	0.27905	-1.0060	10	0.72032	D	0.01	.	12.0399	0.53446	0.3599:0.6401:0.0:0.0	.	227	Q6ZSA7	LRC55_HUMAN	W	257	ENSP00000419542:R257W	ENSP00000419542:R257W	R	+	1	2	LRRC55	56706712	0.132000	0.22450	1.000000	0.80357	0.973000	0.67179	0.093000	0.15086	1.301000	0.44836	0.561000	0.74099	CGG		0.617	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		T	56950136	C	T	56950136	3	4	91	1	0	0	0	0	1	0	0	0	9011	643	23	2	771	2	LRRC55	11	56950136	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	1543385	56950136	78056380	35	6083											
LRP5	4041	broad.mit.edu	37	chr11	68206026	68206026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctattttgtgtgccaGcgcgtggtgtgccagcgcta	4	13	15	9	3	1	0	0	0	1	0	1	0	1	0	2	2	4	1	2	2	2	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:68206026G>A	ENST00000294304.7	+	20	4330	c.4224G>A	c.(4222-4224)caG>caA	p.Q1408Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1408					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGTGTGCCAGCGCGTGGTGT	0.652																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4222-4224)caG>caA		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							94	82	86					11																	68206026		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68206026G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4224G>A	11.37:g.68206026G>A						LRP5_uc009ysg.3_Silent_p.Q818Q	p.Q1408Q	NM_002335	NP_002326	O75197	LRP5_HUMAN			19	4299	+			1408					Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.4224G>A	CCDS8181.1																																																																																				0.652	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68206026	G	A	68206026	2	1	91	1	0	0	0	0	0	0	0	1	8960	962	34	3		3	LRP5	11	68206026	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	11255890	68206026	66800490	36	6084											
KDELC2	143888	broad.mit.edu	37	chr11	108350192	108350192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatatctgtaagcagccaCggtcccatccacatttactt	10	12	7	12	1	1	0	0	0	1	0	3	1	3	1	3	2	3	2	3	2	3	5	rs531322305		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:108350192C>T	ENST00000323468.5	-	6	1194	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	KDELC2_ENST00000375648.1_Missense_Mutation_p.V321M|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Missense_Mutation_p.V321M	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	377						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAGCAGCCACGGTCCCATCC	0.408																																						uc001pkj.2																			0		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(1129-1131)Gtg>Atg		Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.							69	67	68					11																	108350192		1944	4142	6086	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108350192C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1129G>A	11.37:g.108350192C>T	ENSP00000315386:p.Val377Met					KDELC2_uc001pki.2_Missense_Mutation_p.V321M	p.V377M	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	5	1195	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	377					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.1129G>A	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665656	0.88251	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.24723	1.84;1.84;1.84	5.05	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64453	-0.6404	10	0.87932	D	0	-18.191	14.5319	0.67931	0.0:0.926:0.0:0.074	.	377;321	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	M	377;321;321	ENSP00000315386:V377M;ENSP00000413429:V321M;ENSP00000364799:V321M	ENSP00000315386:V377M	V	-	1	0	KDELC2	107855402	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	5.927000	0.70080	2.793000	0.96121	0.655000	0.94253	GTG		0.408	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		T	108350192	C	T	108350192	3	4	91	1	0	0	0	0	1	0	0	0	8118	536	19	1	406	1	KDELC2	11	108350192	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	40144166	108350192	26656324	37	6085											
USP2	9099	broad.mit.edu	37	chr11	119229846	119229846	+	Splice_Site	DEL	T	T	-																															ctcctgagcatcctgctgacTgaacccaaaggaaggagggt																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:119229846delT	ENST00000260187.2	-	6	1356		c.e6-2		USP2_ENST00000525735.1_Splice_Site|USP2_ENST00000455332.2_Splice_Site	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2						cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCCTGCTGACTGAACCCAAAG	0.527																																						uc001pwm.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.e6-1		Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.							86	75	79					11																	119229846		2199	4295	6494	SO:0001630	splice_region_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119229846delT	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1062-2A>-	11.37:g.119229846delT						USP2_uc001pwl.4_Splice_Site_p.N145_splice|USP2_uc001pwn.4_Splice_Site_p.N111_splice	p.N354_splice	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	6	1357	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	354					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Splice_Site	DEL	ENST00000260187.2	37	c.1062_splice	CCDS8422.1																																																																																				0.527	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997	Intron	-	119229846	T	-	119229846	8	5	91	1	0	1	0	1	0	0	1	0	17048	1594	55	0	789	0	USP2	11	119229846	Splice_Site	DEL	T	TCGA-06-5414-01A-01D-1486-08	10879654	119229846	15776670	38	6086											
DIAPH3	81624	broad.mit.edu	37	chr13	60545255	60545256	+	Missense_Mutation	DNP	GA	GA	AT																															agttccaccttctttagaggGaggcaaaggaatattacaat																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:60545255_60545256GA>AT	ENST00000400324.4	-	16	1909_1910	c.1689_1690TC>AT	c.(1687-1692)ccTCcc>ccATcc	p.P564S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.P518S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P494S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P564S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P564S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P553S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	564	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTTAGAGGGAGGCAAAGGAA	0.495																																						uc001vht.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1687-1692)cctccc>ccATcc		Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.																																				SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60545255_60545256GA>AT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1689_1690delinsAT	13.37:g.60545255_60545256delinsAT	ENSP00000383178:p.Pro564Ser					DIAPH3_uc001vhu.3_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.3_Missense_Mutation_p.P142S	p.P564S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	15	1908_1909	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	564			FH1.|Pro-rich.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	DNP	ENST00000400324.4	37	c.1689_1690TC>AT	CCDS41898.1																																																																																				0.495	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		AT	60545256	GA	AT	60545255	3	1	91	1	0	0	0	0	1	0	0	0	4520	1174	41	3	1963	3	DIAPH3	13	60545255	Missense_Mutation	DNP	GA	TCGA-06-5414-01A-01D-1486-08		60545255	54624623	39	6087											
SLITRK1	114798	broad.mit.edu	37	chr13	84455310	84455310	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttgttgttgttgatgtgCagccttttcaccagctgcag	6	16	10	9	0	2	1	1	1	1	0	2	1	2	1	2	0	4	6	2	0	0	6			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:84455310C>A	ENST00000377084.2	-	1	1218	c.333G>T	c.(331-333)ctG>ctT	p.L111L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	111					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTGATGTGCAGCCTTTTCA	0.433																																						uc001vlk.3																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(331-333)ctG>ctT		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							67	71	70					13																	84455310		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84455310C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.333G>T	13.37:g.84455310C>A							p.L111L	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1219	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	111					Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.333G>T	CCDS9464.1																																																																																				0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84455310	C	A	84455310	2	1	91	1	0	0	0	0	0	0	0	1	14742	697	25	5		5	SLITRK1	13	84455310	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08	23910055	84455310	30714568	40	6088											
SLC39A9	55334	broad.mit.edu	37	chr14	69920026	69920026	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggttgtccatgctgcaGgtagggttggattgcagtgg	5	13	17	6	0	1	0	0	0	1	0	2	1	2	1	1	5	3	6	1	5	1	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr14:69920026G>A	ENST00000336643.5	+	4	1150	c.472G>A	c.(472-474)Gct>Act	p.A158T	SLC39A9_ENST00000031146.4_Splice_Site_p.A92T|SLC39A9_ENST00000556605.1_Splice_Site_p.A158T|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	158					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CCATGCTGCAGGTAGGGTTGG	0.463																																						uc001xle.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.e4+1		Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.							120	110	113					14																	69920026		2203	4300	6503	SO:0001630	splice_region_variant	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69920026G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.472+1G>A	14.37:g.69920026G>A						SLC39A9_uc021rvg.1_Splice_Site_p.A40_splice|SLC39A9_uc021rvh.1_Splice_Site_p.A40_splice|SLC39A9_uc001xlf.4_Splice_Site_p.A158_splice|SLC39A9_uc010aqx.3_Intron|SLC39A9_uc001xlg.4_Splice_Site	p.A158_splice	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	4	1174	+			158					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.472_splice	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804526	0.96967	.	.	ENSG00000029364	ENST00000556605;ENST00000336643	T;T	0.44083	0.93;0.93	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52540	-0.8562	10	0.13108	T	0.6	-7.8011	18.8292	0.92130	0.0:0.0:1.0:0.0	.	158;158	G3V5J8;Q9NUM3	.;S39A9_HUMAN	T	158	ENSP00000452385:A158T;ENSP00000336887:A158T	ENSP00000031146:A158T	A	+	1	0	SLC39A9	68989779	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	GCT		0.463	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375	Missense_Mutation	A	69920026	G	A	69920026	5	1	91	1	0	0	0	0	0	0	1	0	14625	1014	35	3	486	3	SLC39A9	14	69920026	Splice_Site	SNP	G	TCGA-06-5414-01A-01D-1486-08		69920026	37429514	41	6089											
TCF12	6938	broad.mit.edu	37	chr15	57524624	57524624	+	Frame_Shift_Del	DEL	G	G	-																															caaccttcattcacatgaccGcttggtaggctataacacgt																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:57524624delG	ENST00000267811.5	+	10	1125	c.821delG	c.(820-822)cgcfs	p.R274fs	TCF12_ENST00000543579.1_Frame_Shift_Del_p.R104fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.R274fs|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000333725.5_Frame_Shift_Del_p.R274fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.R270fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.R104fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.R274fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGC	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(820-822)cgcfs		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.							168	152	157					15																	57524624		2192	4292	6484	SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57524624delG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.821delG	15.37:g.57524624delG	ENSP00000267811:p.Arg274fs					TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.3_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.3_Frame_Shift_Del_p.R274fs|TCF12_uc010ugo.2_Intron|TCF12_uc002aee.3_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.3_Frame_Shift_Del_p.R104fs	p.R274fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	1105	+		Colorectal(260;0.0907)	274					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.821delG	CCDS10159.1																																																																																				0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		-	57524624	G	-	57524624	7	5	91	1	0	1	0	1	0	0	0	0	15684	1087	38	0	928	0	TCF12	15	57524624	Frame_Shift_Del	DEL	G	TCGA-06-5414-01A-01D-1486-08		57524624	45006768	42	6090											
KRT13	3860	broad.mit.edu	37	chr17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																						uc002hwu.1																			0		p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)Cgc>Tgc		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							62	62	62					17																	39659673		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659673G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	17.37:g.39659673G>A	ENSP00000246635:p.Arg201Cys					KRT13_uc002hwv.1_Missense_Mutation_p.R201C|KRT13_uc010wfr.2_Missense_Mutation_p.R94C|KRT13_uc010cxo.3_Missense_Mutation_p.R201C|KRT13_uc021txk.1_Missense_Mutation_p.R94C	p.R201C	NM_153490	NP_705694	P13646	K1C13_HUMAN			2	664	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.601C>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		A	39659673	G	A	39659673	3	1	91	1	0	0	0	0	1	0	0	0	8450	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		39659673	41535537	43	6091											
CNDP2	55748	broad.mit.edu	37	chr18	72178127	72178127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctagacgagctgatttttgCccggaaagacacattcttta	11	12	8	10	2	1	3	0	1	1	2	1	5	1	4	2	1	2	1	2	1	3	6			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:72178127C>T	ENST00000324262.4	+	6	852	c.536C>T	c.(535-537)gCc>gTc	p.A179V	CNDP2_ENST00000324301.8_Missense_Mutation_p.A95V|CNDP2_ENST00000579847.1_Missense_Mutation_p.A179V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	179					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATTTTTGCCCGGAAAGAC	0.527																																						uc002llm.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(535-537)gCc>gTc		Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.							155	140	145					18																	72178127		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72178127C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.536C>T	18.37:g.72178127C>T	ENSP00000325548:p.Ala179Val					CNDP2_uc002lln.2_Missense_Mutation_p.A95V	p.A179V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	5	795	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	179					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.536C>T	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840836	0.16891	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.08370	3.1;3.1	6.06	5.18	0.71444	.	0.207467	0.51477	D	0.000086	T	0.14485	0.0350	M	0.66506	2.035	0.24542	N	0.994064	B;B;B	0.20550	0.046;0.018;0.019	B;B;B	0.27887	0.084;0.025;0.01	T	0.07328	-1.0778	10	0.42905	T	0.14	-17.8439	16.7339	0.85442	0.1305:0.8695:0.0:0.0	.	84;95;179	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	V	179;95	ENSP00000325548:A179V;ENSP00000325756:A95V	ENSP00000325548:A179V	A	+	2	0	CNDP2	70329107	0.960000	0.32886	0.050000	0.19076	0.014000	0.08584	3.856000	0.55964	1.556000	0.49512	-0.181000	0.13052	GCC		0.527	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		T	72178127	C	T	72178127	3	4	91	1	0	0	0	0	1	0	0	0	3594	739	26	3	554	3	CNDP2	18	72178127	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		72178127	5899121	44	6092											
ATG4D	84971	broad.mit.edu	37	chr19	10657548	10657548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagggcatgggcctgggccCccctgagctgtcagggtcag	5	6	17	13	1	2	1	2	1	0	0	2	2	2	1	4	4	1	2	4	4	0	0			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:10657548C>T	ENST00000309469.4	+	4	700	c.527C>T	c.(526-528)cCc>cTc	p.P176L	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	176					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCTGGGCCCCCCTGAGCTG	0.657																																						uc002mov.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(526-528)cCc>cTc		Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.							32	30	31					19																	10657548		2186	4276	6462	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657548C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.527C>T	19.37:g.10657548C>T	ENSP00000311318:p.Pro176Leu					ATG4D_uc010xlg.2_Missense_Mutation_p.P199L|ATG4D_uc010xlh.2_Missense_Mutation_p.P113L|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Intron|ATG4D_uc010dxj.3_Intron	p.P176L	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	647	+			176					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.527C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456239	0.63401	.	.	ENSG00000130734	ENST00000309469	.	.	.	4.82	3.71	0.42584	.	1.032620	0.07623	N	0.927375	T	0.43875	0.1267	L	0.55481	1.735	0.24681	N	0.993366	B;B;B	0.28584	0.025;0.216;0.049	B;B;B	0.27887	0.038;0.084;0.038	T	0.30534	-0.9975	9	0.11794	T	0.64	-0.78	13.4432	0.61125	0.0:0.841:0.159:0.0	.	113;199;176	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	L	176	.	ENSP00000311318:P176L	P	+	2	0	ATG4D	10518548	0.001000	0.12720	0.064000	0.19789	0.900000	0.52787	0.860000	0.27871	2.376000	0.81061	0.561000	0.74099	CCC		0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		T	10657548	C	T	10657548	3	4	91	1	0	0	0	0	1	0	0	0	1099	623	22	3	541	3	ATG4D	19	10657548	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		10657548	48471435	45	6093											
NWD1	284434	broad.mit.edu	37	chr19	16883984	16883984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagactccatttcttcGccacctcacatccagcactg	8	10	6	17	1	2	1	1	0	1	1	5	1	4	1	5	1	1	1	5	1	0	2	rs139109286		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:16883984G>A	ENST00000552788.1	+	9	2458	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	NWD1_ENST00000549814.1_Missense_Mutation_p.A820T|NWD1_ENST00000523826.1_Missense_Mutation_p.A614T|NWD1_ENST00000339803.6_Missense_Mutation_p.A685T|NWD1_ENST00000379808.3_Missense_Mutation_p.A820T|NWD1_ENST00000524140.2_Missense_Mutation_p.A820T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	820							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATTTCTTCGCCACCTCACA	0.577													g|||	1	0.000199681	8e-04	0	5008	,	,		18054	0		0	False		,,,				2504	0					uc002neu.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2458-2460)Gcc>Acc		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.			THR/ALA	1,4405		0,1,2202	80	77	78		2458	-8.1	0	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	820/1433	16883984	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16883984G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2458G>A	19.37:g.16883984G>A	ENSP00000447224:p.Ala820Thr					NWD1_uc002net.4_Missense_Mutation_p.A685T|NWD1_uc002nev.4_Missense_Mutation_p.A614T|NWD1_uc021uqg.1_Missense_Mutation_p.A685T	p.A820T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN			10	2880	+			820					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2458G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	9.623	1.134342	0.21123	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58210	0.35;0.41;0.35;0.35;0.4;0.4	4.04	-8.08	0.01094	.	1.438130	0.04532	N	0.386505	T	0.33323	0.0859	L	0.59436	1.845	0.09310	N	1	P;P;P	0.48998	0.84;0.83;0.918	B;B;B	0.34652	0.129;0.187;0.17	T	0.42582	-0.9443	10	0.12766	T	0.61	-1.0217	4.3172	0.10998	0.3894:0.0:0.1777:0.4329	.	820;820;685	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	685;820;820;820;614;820;685	ENSP00000428579:A820T;ENSP00000447548:A820T;ENSP00000369136:A820T;ENSP00000428955:A614T;ENSP00000447224:A820T;ENSP00000340159:A685T	ENSP00000340159:A685T	A	+	1	0	NWD1	16744984	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	-0.270000	0.08584	-1.472000	0.01883	0.459000	0.35465	GCC		0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16883984	G	A	16883984	3	1	91	1	0	0	0	0	1	0	0	0	10781	1087	38	1	2079	1	NWD1	19	16883984	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	6226436	16883984	42244999	46	6094											
MEGF8	1954	broad.mit.edu	37	chr19	42879827	42879827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcactgtcctctttggcGtgcagcccaaattcaccaac	8	9	8	16	2	2	0	1	0	1	0	3	0	3	0	4	1	3	2	4	1	2	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:42879827G>A	ENST00000251268.6	+	42	7438	c.7438G>A	c.(7438-7440)Gtg>Atg	p.V2480M	MEGF8_ENST00000378073.4_Missense_Mutation_p.V74M|MEGF8_ENST00000334370.4_Missense_Mutation_p.V2413M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2480					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCTTTGGCGTGCAGCCCAA	0.637																																						uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7237-7239)Gtg>Atg		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							41	28	33					19																	42879827		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42879827G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7438G>A	19.37:g.42879827G>A	ENSP00000251268:p.Val2480Met					MEGF8_uc002otm.4_Missense_Mutation_p.V2021M|MEGF8_uc002otn.4_Missense_Mutation_p.V74M	p.V2413M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			40	7872	+		Prostate(69;0.00682)	2480			Laminin EGF-like 4.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7237G>A		.	.	.	.	.	.	.	.	.	.	g	24.1	4.491230	0.84962	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.27720	1.65;1.65	4.92	4.92	0.64577	.	0.077030	0.51477	D	0.000088	T	0.44329	0.1288	L	0.32530	0.975	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.992;0.999	P;P;D	0.65323	0.836;0.579;0.934	T	0.43540	-0.9385	10	0.87932	D	0	-18.5562	17.2736	0.87109	0.0:0.0:1.0:0.0	.	74;2480;2413	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	M	2413;2480;74	ENSP00000334219:V2413M;ENSP00000251268:V2480M	ENSP00000251268:V2480M	V	+	1	0	MEGF8	47571667	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	7.345000	0.79337	2.451000	0.82905	0.651000	0.88453	GTG		0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42879827	G	A	42879827	3	1	91	1	0	0	0	0	1	0	0	0	9463	1145	40	1	7399	1	MEGF8	19	42879827	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	25995843	42879827	16249156	47	6095											
ZNF665	79788	broad.mit.edu	37	chr19	53668521	53668521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgagtgaaaaccttgaCgcattcattacatttgaaag	15	12	7	7	1	1	4	1	4	0	0	1	4	1	4	1	0	3	1	1	0	5	5	rs375884834	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:53668521C>T	ENST00000600412.1	-	2	1142	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	ZNF665_ENST00000396424.3_Missense_Mutation_p.V408I|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V408I(1)|p.V343I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAACCTTGACGCATTCATTA	0.398													C|||	2	0.000399361	0.0015	0	5008	,	,		23227	0		0	False		,,,				2504	0					uc010eqm.1																			2	Substitution - Missense(2)	p.V408I(1)|p.V343I(1)	lung(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1222-1224)Gtc>Atc		Homo sapiens zinc finger protein 665 (ZNF665), mRNA.		C	ILE/VAL	0,4400		0,0,2200	98	104	102		1222	-2.7	0	19		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF665	NM_024733.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	408/679	53668521	1,12999	2200	4300	6500	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668521C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1027G>A	19.37:g.53668521C>T	ENSP00000469154:p.Val343Ile						p.V408I	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	1322	-			343					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1222G>A		.	.	.	.	.	.	.	.	.	.	C	9.628	1.135612	0.21123	0.0	1.16E-4	ENSG00000197497	ENST00000396424	T	0.07567	3.18	2.03	-2.67	0.06059	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	P	0.42203	0.773	B	0.34452	0.183	T	0.32508	-0.9904	9	0.87932	D	0	.	2.9713	0.05924	0.2083:0.5105:0.0:0.2812	.	408	Q9H7R5-2	.	I	408	ENSP00000379702:V408I	ENSP00000379702:V408I	V	-	1	0	ZNF665	58360333	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.233000	0.09041	-0.705000	0.05035	-0.694000	0.03704	GTC		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		T	53668521	C	T	53668521	3	4	91	1	0	0	0	0	1	0	0	0	18070	536	19	1	818	1	ZNF665	19	53668521	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	10788694	53668521	5460462	48	6096											
HCK	3055	broad.mit.edu	37	chr20	30674471	30674471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtggcagtgaagacgatGaagccagggagcatgtcggt	12	6	17	6	2	0	3	0	2	0	1	1	5	0	4	1	4	2	2	1	4	3	0			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:30674471G>A	ENST00000520553.1	+	9	1059	c.813G>A	c.(811-813)atG>atA	p.M271I	HCK_ENST00000518730.1_Missense_Mutation_p.M270I|HCK_ENST00000375852.2_Missense_Mutation_p.M292I|HCK_ENST00000375862.2_Missense_Mutation_p.M291I|HCK_ENST00000538448.1_Missense_Mutation_p.M271I|HCK_ENST00000534862.1_Missense_Mutation_p.M272I	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TGAAGACGATGAAGCCAGGGA	0.577																																						uc002wxh.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(874-876)atG>atA		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							94	76	82					20																	30674471		2202	4300	6502	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674471G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.813G>A	20.37:g.30674471G>A	ENSP00000429848:p.Met271Ile					HCK_uc010gdy.3_Missense_Mutation_p.M272I|HCK_uc021wbv.1_Missense_Mutation_p.M271I|HCK_uc002wxi.3_Missense_Mutation_p.M270I	p.M292I	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	1113	+			292			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.876G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	5.26	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.17564	0.495	0.53688	D	0.999976	B;B	0.25105	0.057;0.118	B;B	0.38194	0.113;0.267	T	0.18178	-1.0345	10	0.87932	D	0	.	9.56	0.39362	0.1585:0.0:0.8415:0.0	.	270;292	P08631-3;P08631	.;HCK_HUMAN	I	272;271;291;271;270;292	ENSP00000444986:M272I;ENSP00000441169:M271I;ENSP00000365022:M291I;ENSP00000429848:M271I;ENSP00000427757:M270I;ENSP00000365012:M292I	ENSP00000365012:M292I	M	+	3	0	HCK	30138132	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	6.556000	0.73932	1.450000	0.47717	0.561000	0.74099	ATG		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			A	30674471	G	A	30674471	3	1	91	1	0	0	0	0	1	0	0	0	6994	1290	45	3	916	3	HCK	20	30674471	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		30674471	32351049	49	6097											
PPARA	5465	broad.mit.edu	37	chr22	46594404	46594404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagatttcgcaatccatcGgcgaggatagttctggaagc	12	9	12	8	3	1	1	0	0	1	1	4	5	2	3	1	3	1	2	1	3	4	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr22:46594404G>A	ENST00000396000.2	+	3	389	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PPARA_ENST00000407236.1_Missense_Mutation_p.G42S|PPARA_ENST00000402126.1_Missense_Mutation_p.G42S|PPARA_ENST00000434345.2_Missense_Mutation_p.G42S|PPARA_ENST00000262735.5_Missense_Mutation_p.G42S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	42					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GCAATCCATCGGCGAGGATAG	0.527																																						uc003bhb.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(124-126)Ggc>Agc		Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						98	106	103					22																	46594404		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46594404G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.124G>A	22.37:g.46594404G>A	ENSP00000379322:p.Gly42Ser					PPARA_uc003bgw.1_Missense_Mutation_p.G42S|PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	p.G42S	NM_005036	NP_005027	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	1	247	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	42					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.124G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539479	0.45176	.	.	ENSG00000186951	ENST00000415785;ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96885	-3.23;-3.23;-4.16;-3.23;-3.23;-3.04	5.7	4.68	0.58851	.	0.128101	0.53938	D	0.000058	D	0.93766	0.8007	L	0.55834	1.745	0.21105	N	0.999788	B;B	0.15473	0.013;0.013	B;B	0.11329	0.006;0.006	T	0.83299	-0.0029	10	0.19147	T	0.46	.	13.5568	0.61763	0.0:0.0:0.8444:0.1556	.	42;42	F1D8S4;Q07869	.;PPARA_HUMAN	S	42	ENSP00000379322:G42S;ENSP00000262735:G42S;ENSP00000414752:G42S;ENSP00000385523:G42S;ENSP00000385246:G42S;ENSP00000408149:G42S	ENSP00000262735:G42S	G	+	1	0	PPARA	44973068	0.988000	0.35896	0.045000	0.18777	0.939000	0.58152	2.756000	0.47549	1.384000	0.46424	0.655000	0.94253	GGC		0.527	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		A	46594404	G	A	46594404	3	1	91	1	0	0	0	0	1	0	0	0	12297	1116	39	2	126	2	PPARA	22	46594404	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		46594404	4710162	50	6098											
CNKSR2	22866	broad.mit.edu	37	chrX	21508621	21508621	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatcatatccctgtcGtcagatcctctggtttcaca	9	12	6	14	1	4	1	3	0	1	1	7	2	6	1	3	1	0	1	3	1	1	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chrX:21508621G>T	ENST00000379510.3	+	6	642	c.606G>T	c.(604-606)tcG>tcT	p.S202S	CNKSR2_ENST00000543067.1_Silent_p.S202S|CNKSR2_ENST00000279451.4_Silent_p.S202S|CNKSR2_ENST00000425654.2_Silent_p.S202S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	202					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATCCCTGTCGTCAGATCCTC	0.398																																						uc004czx.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(604-606)tcG>tcT		Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.							155	127	136					X																	21508621		2203	4300	6503	SO:0001819	synonymous_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21508621G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.606G>T	X.37:g.21508621G>T						CNKSR2_uc004czw.3_Silent_p.S202S|CNKSR2_uc011mjn.2_Silent_p.S202S|CNKSR2_uc011mjo.2_Silent_p.S202S	p.S202S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			5	1086	+			202					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.606G>T	CCDS14198.1																																																																																				0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		T	21508621	G	T	21508621	2	4	91	1	0	0	0	0	0	0	0	1	3607	1132	40	5		5	CNKSR2	23	21508621	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08		21508621	133761939	51	6099											
MIB2	142678	broad.mit.edu	37	chr1	1563750	1563750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccctcaacaaccacCgcgaggtggcccagatcctc	8	6	10	17	2	1	1	1	0	0	1	3	2	2	1	5	3	3	1	5	3	2	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:1563750C>T	ENST00000357210.4	+	15	2329	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C	MIB2_ENST00000504599.1_Missense_Mutation_p.R661C|MIB2_ENST00000355826.5_Missense_Mutation_p.R748C|MIB2_ENST00000360522.4_Missense_Mutation_p.R670C|MIB2_ENST00000378708.1_Missense_Mutation_p.R611C|MIB2_ENST00000518681.1_Missense_Mutation_p.R697C|MIB2_ENST00000378712.1_Missense_Mutation_p.R582C|MIB2_ENST00000378710.3_Missense_Mutation_p.R669C|MIB2_ENST00000520777.1_Missense_Mutation_p.R758C|MIB2_ENST00000505820.2_Missense_Mutation_p.R762C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	705					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACAACCACCGCGAGGTGGC	0.692																																						uc001agg.3																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2284-2286)Cgc>Tgc		Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.							19	24	23					1																	1563750		2046	4188	6234	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563750C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2113C>T	1.37:g.1563750C>T	ENSP00000349741:p.Arg705Cys					MIB2_uc001agh.3_Missense_Mutation_p.R748C|MIB2_uc001agi.3_Missense_Mutation_p.R758C|MIB2_uc001agj.3_Missense_Mutation_p.R546C|MIB2_uc001agk.3_Missense_Mutation_p.R697C|MIB2_uc001agl.2_Missense_Mutation_p.R661C|MIB2_uc001agm.3_Missense_Mutation_p.R582C|MIB2_uc010nyq.2_Missense_Mutation_p.R661C|MIB2_uc009vkh.3_Missense_Mutation_p.R511C|MIB2_uc001agn.3_Missense_Mutation_p.R337C|MIB2_uc001ago.3_5'Flank	p.R762C	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	14	2329	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	705					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2284C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.70|13.70	2.316613|2.316613	0.40996|0.40996	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	.|T;T;T;T;T;T;T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	4.15|4.15	1.17|1.17	0.20885|0.20885	.|Ankyrin repeat-containing domain (3);	.|0.220397	.|0.40302	.|N	.|0.001137	T|T	0.55705|0.55705	0.1937|0.1937	L|L	0.28740|0.28740	0.885|0.885	0.42876|0.42876	D|D	0.994153|0.994153	.|D;D;D;D;D;D;D	.|0.69078	.|0.997;0.977;0.984;0.997;0.997;0.992;0.995	.|P;P;P;P;P;P;P	.|0.60345	.|0.761;0.713;0.72;0.849;0.873;0.707;0.846	T|T	0.53151|0.53151	-0.8479|-0.8479	5|10	.|0.36615	.|T	.|0.2	-17.0243|-17.0243	2.3558|2.3558	0.04295|0.04295	0.1622:0.517:0.1398:0.181|0.1622:0.517:0.1398:0.181	.|.	.|670;611;582;697;758;691;705	.|Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;.;.;.;MIB2_HUMAN	L|C	520|758;705;670;669;748;697;762;582;661;611	.|ENSP00000428660:R758C;ENSP00000349741:R705C;ENSP00000353713:R670C;ENSP00000367982:R669C;ENSP00000348081:R748C;ENSP00000428264:R697C;ENSP00000426103:R762C;ENSP00000367984:R582C;ENSP00000426128:R661C;ENSP00000367980:R611C	.|ENSP00000348081:R748C	P|R	+|+	2|1	0|0	MIB2|MIB2	1553613|1553613	0.000000|0.000000	0.05858|0.05858	0.490000|0.490000	0.27465|0.27465	0.283000|0.283000	0.27025|0.27025	-0.334000|-0.334000	0.07883|0.07883	0.062000|0.062000	0.16340|0.16340	-0.339000|-0.339000	0.08088|0.08088	CCG|CGC		0.692	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		T	1563750	C	T	1563750	3	4	92	1	0	0	0	0	1	0	0	0	9567	652	23	2	2342	2	MIB2	1	1563750	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		1563750	247686871	1	6100											
PLEKHG5	57449	broad.mit.edu	37	chr1	6537601	6537601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcaccttgtgggggaaGgtcgaagcggacatgcccat	8	8	15	10	2	1	0	1	0	0	0	2	3	1	2	2	4	3	1	2	4	2	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:6537601G>C	ENST00000400915.3	-	3	265	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	PLEKHG5_ENST00000377728.3_Missense_Mutation_p.L11V|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.L11V|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.L80V|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.L11V|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.L90V|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.L11V|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.L11V|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.L88V|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.L48V|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.L88V|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.L11V	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	67					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGGGGAAGGTCGAAGCGG	0.617																																						uc001anp.1																			0				liver(1)	1						c.(262-264)Ctt>Gtt		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.							85	84	84					1																	6537601		2203	4300	6503	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6537601G>C	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.199C>G	1.37:g.6537601G>C	ENSP00000383706:p.Leu67Val					PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001ano.1_Missense_Mutation_p.L67V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	p.L88V	NM_198681	NP_065682	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	2	760	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	67					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.262C>G	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821657	0.50633	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.72394	0.34;-0.65;-0.65;0.34;0.34;0.34;-0.65;-0.64;0.34;-0.65;0.34;-0.64	4.52	3.6	0.41247	.	0.000000	0.64402	D	0.000008	T	0.68485	0.3006	L	0.47716	1.5	0.38587	D	0.950325	D;P;P;D;D	0.57571	0.98;0.955;0.809;0.98;0.966	P;P;B;P;P	0.51487	0.671;0.599;0.395;0.671;0.471	T	0.68934	-0.5278	10	0.41790	T	0.15	-18.0393	8.6192	0.33851	0.1836:0.0:0.8164:0.0	.	80;11;88;88;67	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	V	88;11;11;67;88;48;11;11;80;11;90;11	ENSP00000366977:L88V;ENSP00000344570:L11V;ENSP00000383704:L11V;ENSP00000383706:L67V;ENSP00000366969:L88V;ENSP00000366961:L48V;ENSP00000366957:L11V;ENSP00000366954:L11V;ENSP00000441445:L80V;ENSP00000366966:L11V;ENSP00000439625:L90V;ENSP00000437710:L11V	ENSP00000344570:L11V	L	-	1	0	PLEKHG5	6460188	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.802000	0.38853	1.002000	0.39104	0.407000	0.27541	CTT		0.617	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		C	6537601	G	C	6537601	3	2	92	1	0	0	0	0	1	0	0	0	12073	1000	35	5	3069	5	PLEKHG5	1	6537601	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	4973851	6537601	242713020	2	6101											
CD53	963	broad.mit.edu	37	chr1	111435024	111435024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatccacaacaacttcGgagtgctcttccataacctc	10	11	6	14	1	1	1	0	1	1	0	5	2	3	2	3	1	5	2	3	1	3	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:111435024G>A	ENST00000271324.5	+	3	233	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CD53_ENST00000429072.2_Missense_Mutation_p.G41R	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	41					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CAACAACTTCGGAGTGCTCTT	0.507																																						uc001dzw.3																			0		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17						c.(121-123)Gga>Aga		Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.							204	172	183					1																	111435024		2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111435024G>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"CD molecules", "Tetraspanins"	1686	protein-coding gene	gene with protein product		151525	"CD53 antigen"	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.121G>A	1.37:g.111435024G>A	ENSP00000271324:p.Gly41Arg					CD53_uc001dzx.3_Missense_Mutation_p.G41R|CD53_uc010owa.2_Missense_Mutation_p.G41R	p.G41R	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	3	292	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	41					B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.121G>A	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008503	0.54361	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	T;T	0.79845	-1.31;-1.31	5.92	3.04	0.35103	.	0.469539	0.23795	N	0.044488	T	0.49218	0.1544	N	0.24115	0.695	0.41823	D	0.990038	B;B	0.26258	0.145;0.012	B;B	0.26614	0.071;0.011	T	0.44329	-0.9335	10	0.41790	T	0.15	.	6.3342	0.21287	0.0725:0.1327:0.657:0.1378	.	41;41	B4DQB5;P19397	.;CD53_HUMAN	R	41	ENSP00000412250:G41R;ENSP00000271324:G41R	ENSP00000271324:G41R	G	+	1	0	CD53	111236547	1.000000	0.71417	0.361000	0.25849	0.967000	0.64934	5.250000	0.65432	0.409000	0.25649	0.650000	0.86243	GGA		0.507	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		A	111435024	G	A	111435024	3	1	92	1	0	0	0	0	1	0	0	0	3023	1117	39	2	127	2	CD53	1	111435024	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	104897423	111435024	137815597	3	6102											
HRNR	388697	broad.mit.edu	37	chr1	152188024	152188024	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctccatgttggccacagctCgatgactgtcctgatgcaga	8	10	11	12	1	0	3	0	2	0	1	3	4	2	3	3	1	2	4	3	1	0	1	rs142170860		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:152188024C>G	ENST00000368801.2	-	3	6156	c.6081G>C	c.(6079-6081)tcG>tcC	p.S2027S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2027					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2027S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562																																						uc001ezt.1																			2	Substitution - coding silent(2)	p.S2027S(4)	lung(1)|kidney(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6079-6081)tcG>tcC		Homo sapiens hornerin (HRNR), mRNA.							348	495	444					1																	152188024		2158	4162	6320	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188024C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6081G>C	1.37:g.152188024C>G							p.S2027S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6157	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2027					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6081G>C	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152188024	C	G	152188024	2	3	92	1	0	0	0	0	0	0	0	1	7359	871	31	5		5	HRNR	1	152188024	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	40753000	152188024	97062597	4	6103											
NUP210L	91181	broad.mit.edu	37	chr1	154090286	154090286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgacctgcagtcaccactCctttcgtggttactatgacc	7	12	7	15	1	1	2	1	2	0	0	3	2	2	2	5	1	2	2	5	1	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:154090286C>T	ENST00000368559.3	-	12	1606	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	NUP210L_ENST00000271854.3_Missense_Mutation_p.G512E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	512					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTCACCACTCCTTTCGTGGT	0.433																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1534-1536)gGa>gAa		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							124	118	120					1																	154090286		1918	4125	6043	SO:0001583	missense	91181					integral to membrane		g.chr1:154090286C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1535G>A	1.37:g.154090286C>T	ENSP00000357547:p.Gly512Glu					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G512E	p.G512E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		11	1607	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		512					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1535G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723675	0.68959	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.78364	-1.17;-1.17	4.55	4.55	0.56014	Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000036	D	0.83876	0.5349	M	0.67397	2.05	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86361	0.1717	10	0.87932	D	0	-17.1412	15.0853	0.72148	0.0:1.0:0.0:0.0	.	512;512	E7EP56;Q5VU65	.;P210L_HUMAN	E	512	ENSP00000357547:G512E;ENSP00000271854:G512E	ENSP00000271854:G512E	G	-	2	0	NUP210L	152356910	1.000000	0.71417	0.994000	0.49952	0.583000	0.36354	5.423000	0.66458	2.094000	0.63399	0.557000	0.71058	GGA		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154090286	C	T	154090286	3	4	92	1	0	0	0	0	1	0	0	0	10761	855	30	3	4247	3	NUP210L	1	154090286	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	1902262	154090286	95160335	5	6104											
TIPRL	261726	broad.mit.edu	37	chr1	168165850	168165850	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgatggggtgcttatCagaatgaatgacacgagact	14	10	12	5	1	1	6	1	3	0	3	1	7	1	6	0	2	1	1	0	2	4	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:168165850C>A	ENST00000367833.2	+	5	727	c.582C>A	c.(580-582)atC>atA	p.I194I		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	194	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GGGTGCTTATCAGAATGAATG	0.323																																						uc001gfg.3																			0				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6						c.(580-582)atC>atA		Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.							122	125	124					1																	168165850		2203	4300	6503	SO:0001819	synonymous_variant	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168165850C>A	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.582C>A	1.37:g.168165850C>A							p.I194I	NM_152902	NP_690866	O75663	TIPRL_HUMAN			4	727	+	all_hematologic(923;0.215)		194			Interaction with PPP2CA.		B2R8V3|Q5HYB2|Q8IZ86	Silent	SNP	ENST00000367833.2	37	c.582C>A	CCDS1270.1																																																																																				0.323	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		A	168165850	C	A	168165850	2	1	92	1	0	0	0	0	0	0	0	1	15923	816	29	5		5	TIPRL	1	168165850	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	14075564	168165850	81084771	6	6105											
USH2A	7399	broad.mit.edu	37	chr1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcaagtttccattaCgactcaattgatattgagaa	16	11	8	6	1	1	2	1	2	0	1	2	5	2	3	1	1	2	2	1	1	7	5	rs527236139		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:215933077C>T	ENST00000307340.3	-	57	11542	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3719H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3719	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11155-11157)cGt>cAt		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							122	115	118					1																	215933077		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933077C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11156G>A	1.37:g.215933077C>T	ENSP00000305941:p.Arg3719His	HNSCC(13;0.011)					p.R3719H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	56	11543	-			3719			Fibronectin type-III 22.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11156G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258397	0.80246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55052	0.54;0.54	5.5	4.57	0.56435	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000454	T	0.68879	0.3049	M	0.75447	2.3	0.50467	D	0.999877	D	0.89917	1.0	D	0.64410	0.925	T	0.70436	-0.4872	10	0.42905	T	0.14	.	13.475	0.61303	0.2845:0.7155:0.0:0.0	.	3719	O75445	USH2A_HUMAN	H	3719	ENSP00000305941:R3719H;ENSP00000355910:R3719H	ENSP00000305941:R3719H	R	-	2	0	USH2A	213999700	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.436000	0.52856	1.405000	0.46838	0.563000	0.77884	CGT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215933077	C	T	215933077	3	4	92	1	0	0	0	0	1	0	0	0	17033	536	19	1	4516	1	USH2A	1	215933077	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	47767227	215933077	33317544	7	6106											
EPHX1	2052	broad.mit.edu	37	chr1	226027611	226027611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcctgggacagcgtttCgggaggtttcttggcctcac	4	12	12	13	2	2	0	1	0	1	0	5	2	4	2	3	4	1	2	3	4	0	3	rs369274884		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:226027611C>T	ENST00000366837.4	+	6	1000	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EPHX1_ENST00000272167.5_Silent_p.F268F|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	268					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552																																						uc001hpk.3																			0		p.R267C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(802-804)ttC>ttT		Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.		C	,	0,4406		0,0,2203	194	177	183		804,804	-9.1	0	1		183	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHX1	NM_000120.3,NM_001136018.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	268/456,268/456	226027611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027611C>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.804C>T	1.37:g.226027611C>T						EPHX1_uc001hpl.3_Silent_p.F268F	p.F268F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			5	884	+	Breast(184;0.197)		268					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	c.804C>T	CCDS1547.1																																																																																				0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		T	226027611	C	T	226027611	2	4	92	1	0	0	0	0	0	0	0	1	5179	883	31	2		2	EPHX1	1	226027611	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	10094534	226027611	23223010	8	6107											
RYR2	6262	broad.mit.edu	37	chr1	237838075	237838075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgccttctattgagaaacGatttgcctatagtttcctcc	9	14	6	12	2	1	1	0	1	1	1	3	3	3	1	4	0	2	1	4	0	4	7			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:237838075G>A	ENST00000366574.2	+	60	9076	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R2918Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2904Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2920	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTGAGAAACGATTTGCCTAT	0.423																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(8758-8760)cGa>cAa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							117	108	111					1																	237838075		1862	4101	5963	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237838075G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8759G>A	1.37:g.237838075G>A	ENSP00000355533:p.Arg2920Gln					RYR2_uc010pxz.1_5'UTR	p.R2920Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8879	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2920			4 X approximate repeats.|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8759G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252877	0.95336	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.98280	-0.05;-4.84;-0.05	4.88	4.88	0.63580	.	0.109676	0.36815	U	0.002400	D	0.98960	0.9646	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99814	1.1043	10	0.87932	D	0	.	18.3939	0.90492	0.0:0.0:1.0:0.0	.	2920	Q92736	RYR2_HUMAN	Q	2920;2918;2904	ENSP00000355533:R2920Q;ENSP00000353174:R2918Q;ENSP00000443798:R2904Q	ENSP00000353174:R2918Q	R	+	2	0	RYR2	235904698	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.323000	0.96364	2.406000	0.81754	0.557000	0.71058	CGA		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237838075	G	A	237838075	3	1	92	1	0	0	0	0	1	0	0	0	13769	1058	37	2	8997	2	RYR2	1	237838075	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	11810464	237838075	11412546	9	6108											
SNTG2	54221	broad.mit.edu	37	chr2	1271318	1271318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccttccaaagagccaCgttcatggaagttcagagaa	14	8	10	9	1	2	2	2	0	0	2	4	5	4	3	3	1	1	2	3	1	4	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:1271318C>T	ENST00000308624.5	+	14	1388	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	SNTG2_ENST00000407292.1_Missense_Mutation_p.T293M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	420	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAGAGCCACGTTCATGGAA	0.527																																						uc002qwq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1258-1260)aCg>aTg		Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.							38	38	38					2																	1271318		1970	4150	6120	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271318C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1259C>T	2.37:g.1271318C>T	ENSP00000311837:p.Thr420Met					SNTG2_uc010ewi.3_Missense_Mutation_p.T293M	p.T420M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1388	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	420			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1259C>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	3.962	-0.010150	0.07727	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.76839	-1.05;-1.05	4.61	2.48	0.30137	Pleckstrin homology domain (1);	0.119063	0.56097	D	0.000023	T	0.63651	0.2529	L	0.59436	1.845	0.22389	N	0.999146	P;B	0.38167	0.621;0.037	B;B	0.24006	0.05;0.009	T	0.60811	-0.7189	10	0.59425	D	0.04	.	4.3025	0.10932	0.0:0.4605:0.0:0.5395	.	293;420	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	M	420;293	ENSP00000311837:T420M;ENSP00000385020:T293M	ENSP00000311837:T420M	T	+	2	0	SNTG2	1253899	0.826000	0.29277	0.219000	0.23793	0.011000	0.07611	2.335000	0.43929	0.907000	0.36646	-0.137000	0.14449	ACG		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		T	1271318	C	T	1271318	3	4	92	1	0	0	0	0	1	0	0	0	14875	536	19	1	1313	1	SNTG2	2	1271318	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		1271318	241928055	10	6109											
TTN	7273	broad.mit.edu	37	chr2	179425883	179425883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcattccttgcaaaaacccGgaattcataacgctgatctt	13	11	6	11	2	2	1	1	1	1	0	3	2	3	2	2	1	4	3	2	1	4	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:179425883G>A	ENST00000591111.1	-	276	80277	c.80053C>T	c.(80053-80055)Cgg>Tgg	p.R26685W	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25758W|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19261W|TTN_ENST00000342175.6_Missense_Mutation_p.R19453W|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19386W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28326W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26685	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAAACCCGGAATTCATAA	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(77272-77274)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							86	83	84					2																	179425883		1896	4110	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425883G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80053C>T	2.37:g.179425883G>A	ENSP00000465570:p.Arg26685Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19453W|TTN_uc021vta.1_Missense_Mutation_p.R19386W|TTN_uc021vtb.1_Missense_Mutation_p.R19261W	p.R25758W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	77497	-			26685			Fibronectin type-III 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77272C>T		.	.	.	.	.	.	.	.	.	.	G	13.13	2.144790	0.37825	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86830	0.6027	H	0.98818	4.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.976;0.976;0.976;0.976	D	0.91608	0.5300	9	0.87932	D	0	.	20.1386	0.98045	0.0:0.0:1.0:0.0	.	19261;19386;19453;26685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	25758;19261;19453;19386;19259	ENSP00000343764:R25758W;ENSP00000434586:R19261W;ENSP00000340554:R19453W;ENSP00000352154:R19386W	ENSP00000340554:R19453W	R	-	1	2	TTN	179134129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.625000	0.67770	2.767000	0.95098	0.561000	0.74099	CGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179425883	G	A	179425883	3	1	92	1	0	0	0	0	1	0	0	0	16732	1115	39	2	23151	2	TTN	2	179425883	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	178154565	179425883	63773490	11	6110											
NMUR1	10316	broad.mit.edu	37	chr2	232393454	232393454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagtagttggtaggcGtgcgcatggccttgtggcgc	6	10	18	7	3	0	1	0	0	0	1	0	1	0	1	1	5	1	5	1	5	3	5	rs201125357		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:232393454G>A	ENST00000305141.4	-	2	411	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	93					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTTGGTAGGCGTGCGCATGGC	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		20860	0		0	False		,,,				2504	0					uc002vry.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(277-279)aCg>aTg		Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.							98	93	95					2																	232393454		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393454G>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.278C>T	2.37:g.232393454G>A	ENSP00000305877:p.Thr93Met						p.T93M	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	1	388	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	93					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.278C>T	CCDS2486.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	21.4	4.147140	0.77888	.	.	ENSG00000171596	ENST00000305141	T	0.46819	0.86	5.21	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.107337	0.64402	D	0.000005	T	0.80949	0.4722	H	0.99261	4.49	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	D	0.87592	0.2491	10	0.87932	D	0	-19.6708	12.6924	0.56982	0.0799:0.0:0.9201:0.0	.	93	Q9HB89	NMUR1_HUMAN	M	93	ENSP00000305877:T93M	ENSP00000305877:T93M	T	-	2	0	NMUR1	232101698	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	7.953000	0.87836	1.210000	0.43336	0.555000	0.69702	ACG		0.612	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		A	232393454	G	A	232393454	3	1	92	1	0	0	0	0	1	0	0	0	10506	1145	40	1	1010	1	NMUR1	2	232393454	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	52967571	232393454	10805919	12	6111											
PTPRG	5793	broad.mit.edu	37	chr3	62188854	62188854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctttccagcccacagCgtctcctgcctcttcagccg	5	10	7	19	2	3	1	1	1	2	0	5	1	4	1	6	0	4	0	6	0	0	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:62188854C>T	ENST00000474889.1	+	12	1762	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	PTPRG_ENST00000295874.10_Missense_Mutation_p.A462V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCCCACAGCGTCTCCTGCC	0.547																																						uc003dlb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1384-1386)gCg>gTg		Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.							67	74	71					3																	62188854		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188854C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1385C>T	3.37:g.62188854C>T	ENSP00000418112:p.Ala462Val					PTPRG_uc003dlc.3_Missense_Mutation_p.A462V	p.A462V	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	11	2104	+			462					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1385C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465375	0.43839	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.47528	0.88;0.84	4.3	4.3	0.51218	.	0.205995	0.44902	D	0.000412	T	0.30572	0.0769	L	0.29908	0.895	0.35955	D	0.834206	B;B	0.15719	0.011;0.014	B;B	0.10450	0.003;0.005	T	0.21314	-1.0249	10	0.07030	T	0.85	.	10.7709	0.46321	0.0:0.9114:0.0:0.0886	.	462;462	P23470-2;P23470	.;PTPRG_HUMAN	V	462	ENSP00000418112:A462V;ENSP00000295874:A462V	ENSP00000295874:A462V	A	+	2	0	PTPRG	62163894	1.000000	0.71417	0.994000	0.49952	0.821000	0.46438	4.161000	0.58170	2.104000	0.64026	0.591000	0.81541	GCG		0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	62188854	C	T	62188854	3	4	92	1	0	0	0	0	1	0	0	0	12802	768	27	1	1431	1	PTPRG	3	62188854	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		62188854	135833576	13	6112											
STAG1	10274	broad.mit.edu	37	chr3	136076625	136076625	+	Frame_Shift_Del	DEL	A	A	-																															ttagtacttcaagaaaagccAgattaggaggtggatactct																										TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:136076625delA	ENST00000383202.2	-	28	3258	c.3002delT	c.(3001-3003)ctgfs	p.L1001fs	STAG1_ENST00000536929.1_Frame_Shift_Del_p.L585fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.L1001fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.L741fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1001					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGAAAAGCCAGATTAGGAGG	0.333																																						uc003era.1																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3001-3003)ctgfs		Homo sapiens stromal antigen 1 (STAG1), mRNA.							104	102	102					3																	136076625		2203	4295	6498	SO:0001589	frameshift_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136076625delA	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3002delT	3.37:g.136076625delA	ENSP00000372689:p.Leu1001fs					STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	p.L1001fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			27	3294	-			1001					O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	c.3002delT	CCDS3090.1																																																																																				0.333	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		-	136076625	A	-	136076625	7	5	92	1	0	1	0	1	0	0	0	0	15241	188	7	0	802	0	STAG1	3	136076625	Frame_Shift_Del	DEL	A	TCGA-06-5415-01A-01D-1486-08	73887771	136076625	61945805	14	6113											
BMP3	651	broad.mit.edu	37	chr4	81952456	81952456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccatggctggggcgagcagGctgctctttctgtggctggg	3	10	18	10	1	2	0	0	0	2	0	2	1	2	0	1	6	2	5	1	6	0	1	rs368705872		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:81952456G>A	ENST00000282701.2	+	1	338	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	6					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCGAGCAGGCTGCTCTTTC	0.706																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(16-18)agG>agA		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.		G		0,4390		0,0,2195	13	16	15		18	-3.7	0	4		15	2,8558		0,2,4278	no	coding-synonymous	BMP3	NM_001201.2		0,2,6473	AA,AG,GG		0.0234,0.0,0.0154		6/473	81952456	2,12948	2195	4280	6475	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952456G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.18G>A	4.37:g.81952456G>A							p.R6R	NM_001201	NP_001192	P12645	BMP3_HUMAN			0	338	+			6					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.18G>A	CCDS3588.1																																																																																				0.706	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			A	81952456	G	A	81952456	2	1	92	1	0	0	0	0	0	0	0	1	1461	1194	42	3		3	BMP3	4	81952456	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		81952456	109201820	15	6114											
MTTP	4547	broad.mit.edu	37	chr4	100534247	100534247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgctgtcagcatctggcGaccctatcagtgtggtgaaa	11	10	11	9	1	3	1	2	1	1	0	3	2	3	1	1	2	2	2	1	2	3	1	rs371023325		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:100534247G>A	ENST00000265517.5	+	15	2370	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	MTTP_ENST00000511045.1_Missense_Mutation_p.D750N|MTTP_ENST00000457717.1_Missense_Mutation_p.D723N|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	723					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGCATCTGGCGACCCTATCAG	0.428																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2248-2250)Gac>Aac		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						157	139	145					4																	100534247		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534247G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2167G>A	4.37:g.100534247G>A	ENSP00000265517:p.Asp723Asn					MTTP_uc003hvc.4_Missense_Mutation_p.D723N	p.D750N	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2261	+			723					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2248G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264110	0.95399	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.64085	-0.08;-0.06;-0.06	5.49	5.49	0.81192	.	0.090639	0.85682	D	0.000000	T	0.77585	0.4152	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.72075	0.976;0.453	T	0.76277	-0.3018	10	0.44086	T	0.13	-14.0027	19.349	0.94376	0.0:0.0:1.0:0.0	.	750;723	E9PBP6;P55157	.;MTP_HUMAN	N	750;723;723	ENSP00000427679:D750N;ENSP00000400821:D723N;ENSP00000265517:D723N	ENSP00000265517:D723N	D	+	1	0	MTTP	100753270	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	9.307000	0.96226	2.581000	0.87130	0.585000	0.79938	GAC		0.428	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			A	100534247	G	A	100534247	3	1	92	1	0	0	0	0	1	0	0	0	9964	1058	37	2	2225	2	MTTP	4	100534247	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	18581791	100534247	90620029	16	6115											
TLL1	7092	broad.mit.edu	37	chr4	166915601	166915601	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcaaaatgagaaaaatCgagttcccagagccgctaca	16	5	10	10	2	0	2	0	1	0	2	2	4	1	2	2	1	2	3	2	1	5	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:166915601C>T	ENST00000061240.2	+	4	1077	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TLL1_ENST00000513213.1_Nonsense_Mutation_p.R144*|TLL1_ENST00000507499.1_Nonsense_Mutation_p.R144*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	144					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAGAAAAATCGAGTTCCCAG	0.423																																						uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(430-432)Cga>Tga		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							76	74	75					4																	166915601		2203	4300	6503	SO:0001587	stop_gained	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166915601C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.430C>T	4.37:g.166915601C>T	ENSP00000061240:p.Arg144*					TLL1_uc021xud.1_Nonsense_Mutation_p.R144*|TLL1_uc011cjn.2_Nonsense_Mutation_p.R144*|TLL1_uc011cjo.2_5'UTR	p.R144*	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	3	1077	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	144					B2RMU2|Q96AN3|Q9NQS4	Nonsense_Mutation	SNP	ENST00000061240.2	37	c.430C>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	38	6.691577	0.97768	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	.	.	.	5.51	4.67	0.58626	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0951	0.65016	0.4309:0.5691:0.0:0.0	.	.	.	.	X	144;144;144;44	.	ENSP00000061240:R144X	R	+	1	2	TLL1	167135051	0.562000	0.26586	0.994000	0.49952	0.037000	0.13140	1.062000	0.30555	1.314000	0.45095	0.655000	0.94253	CGA		0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166915601	C	T	166915601	4	4	92	1	0	0	0	0	0	1	0	0	15942	876	31	2	444	2	TLL1	4	166915601	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	66381354	166915601	24238675	17	6116											
PDE8B	8622	broad.mit.edu	37	chr5	76640735	76640735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagccatagaaataacAagcgatgaccacgtgattca	17	7	8	9	2	1	4	1	3	0	1	1	5	1	4	2	0	3	0	2	0	5	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:76640735A>G	ENST00000264917.5	+	7	900	c.855A>G	c.(853-855)acA>acG	p.T285T	PDE8B_ENST00000333194.4_Silent_p.T285T|PDE8B_ENST00000340978.3_Silent_p.T285T|PDE8B_ENST00000342343.4_Silent_p.T265T|PDE8B_ENST00000346042.3_Silent_p.T285T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	285	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TAGAAATAACAAGCGATGACC	0.353																																						uc003kfa.3																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(853-855)acA>acG		Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.							145	139	141					5																	76640735		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76640735A>G	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.855A>G	5.37:g.76640735A>G						PDE8B_uc003kfd.3_Silent_p.T285T|PDE8B_uc003kfe.3_Silent_p.T285T|PDE8B_uc003kfb.3_Silent_p.T265T|PDE8B_uc003kfc.3_Silent_p.T285T	p.T285T	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	6	900	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	285			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.855A>G	CCDS4037.1																																																																																				0.353	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		G	76640735	A	G	76640735	2	3	92	1	0	0	0	0	0	0	0	1	11654	117	5	4		4	PDE8B	5	76640735	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08		76640735	104274525	18	6117											
RASA1	5921	broad.mit.edu	37	chr5	86659220	86659220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagagggtagtgatgcccaActtatttattttgaaagcga	12	14	10	5	1	0	3	0	2	0	1	0	4	0	3	1	1	3	1	1	1	6	7			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:86659220A>G	ENST00000274376.6	+	11	2073	c.1509A>G	c.(1507-1509)caA>caG	p.Q503Q	RASA1_ENST00000506290.1_Silent_p.Q337Q|RASA1_ENST00000456692.2_Silent_p.Q326Q|RASA1_ENST00000512763.1_Silent_p.Q336Q	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	503	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTGATGCCCAACTTATTTATT	0.323																																						uc003kiw.3																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1507-1509)caA>caG		Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.							78	79	79					5																	86659220		2203	4300	6503	SO:0001819	synonymous_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86659220A>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1509A>G	5.37:g.86659220A>G						RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Silent_p.Q326Q|RASA1_uc011ctv.2_Silent_p.Q336Q|RASA1_uc011ctw.2_Silent_p.Q337Q|RASA1_uc010jaw.3_Silent_p.Q325Q	p.Q503Q	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	10	1708	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	503			PH.		B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	c.1509A>G	CCDS34200.1																																																																																				0.323	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86659220	A	G	86659220	2	3	92	1	0	0	0	0	0	0	0	1	13060	40	2	4		4	RASA1	5	86659220	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	10018485	86659220	94256040	19	6118											
GPR98	84059	broad.mit.edu	37	chr5	89986845	89986845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggctgacgacgttcCggagattgaagaggtgagag	9	8	17	7	3	0	5	0	3	0	3	2	8	2	5	2	4	0	2	2	4	1	2	rs199571511		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:89986845C>T	ENST00000405460.2	+	31	7034	c.6938C>T	c.(6937-6939)cCg>cTg	p.P2313L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2313	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGACGTTCCGGAGATTGAA	0.468																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6937-6939)cCg>cTg		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							130	124	126					5																	89986845		1947	4150	6097	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986845C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6938C>T	5.37:g.89986845C>T	ENSP00000384582:p.Pro2313Leu					GPR98_uc003kjt.3_Intron|GPR98_uc003kjv.3_5'Flank	p.P2313L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	7034	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2313			Calx-beta 16.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6938C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159227	0.94686	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29655	1.56	5.94	5.94	0.96194	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44772	-0.9306	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	2313	Q8WXG9	GPR98_HUMAN	L	2313	ENSP00000384582:P2313L	ENSP00000296619:P2313L	P	+	2	0	GPR98	90022601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.807000	0.96579	0.591000	0.81541	CCG		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89986845	C	T	89986845	3	4	92	1	0	0	0	0	1	0	0	0	6721	652	23	2	7060	2	GPR98	5	89986845	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	3327625	89986845	90928415	20	6119											
TRPC7	57113	broad.mit.edu	37	chr5	135583350	135583350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtatgcaatgcgagagaaGctcagcacgacggctatcgc	12	7	12	10	4	1	1	1	0	0	1	2	4	1	1	0	1	4	5	0	1	4	2	rs575768183		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:135583350G>A	ENST00000513104.1	-	7	1935	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	TRPC7_ENST00000355180.3_Silent_p.S490S|TRPC7_ENST00000426057.2_Silent_p.S435S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	551					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGAGAGAAGCTCAGCACGA	0.502													G|||	1	0.000199681	8e-04	0	5008	,	,		20627	0		0	False		,,,				2504	0					uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1651-1653)agC>agT		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							117	118	117					5																	135583350		1976	4172	6148	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583350G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1653C>T	5.37:g.135583350G>A						TRPC7_uc010jef.2_Silent_p.S487S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.S102S|TRPC7_uc010jeh.2_Silent_p.S490S|TRPC7_uc010jei.2_Silent_p.S435S	p.S551S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1875	-			551					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.1653C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.633	1.137001	0.21123	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.65	2.96	0.34315	.	.	.	.	.	T	0.58680	0.2139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52366	-0.8585	4	.	.	.	-26.0154	9.3372	0.38058	0.2699:0.0:0.7301:0.0	.	.	.	.	F	435;490;496	.	.	L	-	1	0	TRPC7	135611249	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.855000	0.39378	0.502000	0.28037	-0.126000	0.14955	CTT		0.502	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135583350	G	A	135583350	2	1	92	1	0	0	0	0	0	0	0	1	16581	962	34	3		3	TRPC7	5	135583350	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	45596505	135583350	45331910	21	6120											
GABRA1	2554	broad.mit.edu	37	chr5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctaaagaggtcaagcccGaaacaaaaccaccagaaccc	19	2	6	14	1	1	2	1	0	0	2	1	3	1	2	5	1	5	0	5	1	8	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:161324264G>A	ENST00000428797.2	+	11	1562	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_ENST00000444819.1_Missense_Mutation_p.E403K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E403K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E403K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E403K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E403K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	403					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E403K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGTCAAGCCCGAAACAAAACC	0.473																																						uc010jiw.3																			1	Substitution - Missense(1)	p.E403K(2)	NS(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1207-1209)Gaa>Aaa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						139	139	139					5																	161324264		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324264G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1207G>A	5.37:g.161324264G>A	ENSP00000393097:p.Glu403Lys					GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1675	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	403					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1207G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769814	0.49680	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.32	4.44	0.53790	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.332212	0.35235	N	0.003346	T	0.67515	0.2901	N	0.12527	0.23	0.42659	D	0.993474	B	0.18166	0.026	B	0.14578	0.011	T	0.59794	-0.7387	10	0.06891	T	0.86	.	9.0842	0.36570	0.0736:0.0:0.7784:0.1481	.	403	P14867	GBRA1_HUMAN	K	403	ENSP00000023897:E403K;ENSP00000393097:E403K;ENSP00000377517:E403K;ENSP00000415441:E403K;ENSP00000408041:E403K;ENSP00000414232:E403K	ENSP00000023897:E403K	E	+	1	0	GABRA1	161256842	1.000000	0.71417	0.656000	0.29637	0.984000	0.73092	5.197000	0.65141	1.345000	0.45676	0.563000	0.77884	GAA		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161324264	G	A	161324264	3	1	92	1	0	0	0	0	1	0	0	0	6160	1059	37	2	1241	2	GABRA1	5	161324264	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	25740914	161324264	19590996	22	6121											
CUL9	23113	broad.mit.edu	37	chr6	43181519	43181519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggctgatacctccccagGcatacctgaacgtagagaag	11	8	11	11	1	0	3	0	2	0	1	1	4	1	3	4	2	3	3	4	2	5	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:43181519G>A	ENST00000252050.4	+	29	5641	c.5557G>A	c.(5557-5559)Gca>Aca	p.A1853T	CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Missense_Mutation_p.A1743T|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1853				Missing (in Ref. 3; CAH18696). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTCCCCAGGCATACCTGAA	0.577																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5557-5559)Gca>Aca		Homo sapiens cullin 9 (CUL9), mRNA.							71	73	72					6																	43181519		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43181519G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5557G>A	6.37:g.43181519G>A	ENSP00000252050:p.Ala1853Thr					CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Missense_Mutation_p.A1005T|CUL9_uc003oun.3_5'Flank	p.A1853T	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			28	5632	+			1853	Missing (in Ref. 3; CAH18696).				O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5557G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	4.848	0.157663	0.09236	.	.	ENSG00000112659	ENST00000252050;ENST00000354495	T;T	0.70631	-0.5;-0.5	4.92	1.16	0.20824	.	0.712783	0.14672	N	0.305298	T	0.10637	0.0260	N	0.01109	-1.01	0.26962	N	0.965797	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.40346	-0.9568	10	0.02654	T	1	-0.1086	4.7435	0.13026	0.7003:0.0:0.1598:0.1399	.	1743;1853	Q8IWT3-3;Q8IWT3	.;CUL9_HUMAN	T	1853;1743	ENSP00000252050:A1853T;ENSP00000346490:A1743T	ENSP00000252050:A1853T	A	+	1	0	CUL9	43289497	0.937000	0.31787	0.628000	0.29241	0.975000	0.68041	2.093000	0.41710	0.291000	0.22468	-0.302000	0.09304	GCA		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43181519	G	A	43181519	3	1	92	1	0	0	0	0	1	0	0	0	4061	1203	42	3	5667	3	CUL9	6	43181519	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		43181519	127933548	23	6122											
CLIC5	53405	broad.mit.edu	37	chr6	45882070	45882070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccacaagtgttggcGtcaatctcctctggtagagg	7	12	10	12	1	4	1	1	0	3	1	6	1	5	1	3	3	0	2	3	3	3	3	rs146052023		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:45882070G>A	ENST00000185206.6	-	5	1112	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CLIC5_ENST00000339561.6_Silent_p.D161D|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Silent_p.D161D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	320	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTGTTGGCGTCAATCTCCT	0.537																																						uc003oxv.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(958-960)gaC>gaT		Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		A	,	2,4404	4.2+/-10.8	0,2,2201	134	132	133		960,483	-8.7	0	6	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIC5	NM_001114086.1,NM_016929.3	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	320/411,161/252	45882070	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45882070G>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.960C>T	6.37:g.45882070G>A						CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.D161D	p.D320D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			4	1066	-			320			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	ENST00000185206.6	37	c.960C>T	CCDS47438.1																																																																																				0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			A	45882070	G	A	45882070	2	1	92	1	0	0	0	0	0	0	0	1	3529	1136	40	1		1	CLIC5	6	45882070	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	2700551	45882070	125232997	24	6123											
STX7	8417	broad.mit.edu	37	chr6	132792715	132792715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaactctgccactaagcGatccttctgtattttccttt	7	17	6	11	1	2	1	0	1	2	0	4	2	4	1	3	0	3	1	3	0	3	6			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:132792715G>A	ENST00000367941.2	-	5	387	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	STX7_ENST00000367937.4_Missense_Mutation_p.R92C|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	92					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCCACTAAGCGATCCTTCTGT	0.453																																						uc003qdg.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(274-276)Cgc>Tgc		Homo sapiens syntaxin 7 (STX7), mRNA.							157	144	148					6																	132792715		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132792715G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.274C>T	6.37:g.132792715G>A	ENSP00000356918:p.Arg92Cys					STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	p.R92C	NM_003569	NP_003560	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	4	524	-	Breast(56;0.0615)		92					E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.274C>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910793	0.92178	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000367937	T;T;T	0.36699	1.24;1.24;1.24	5.93	5.93	0.95920	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68296	-0.5446	10	0.87932	D	0	-5.7239	20.3368	0.98748	0.0:0.0:1.0:0.0	.	92	O15400	STX7_HUMAN	C	92	ENSP00000356918:R92C;ENSP00000412202:R92C;ENSP00000356914:R92C	ENSP00000356914:R92C	R	-	1	0	STX7	132834408	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.335000	0.79234	2.805000	0.96524	0.655000	0.94253	CGC		0.453	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			A	132792715	G	A	132792715	3	1	92	1	0	0	0	0	1	0	0	0	15349	1058	37	2	535	2	STX7	6	132792715	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	86910645	132792715	38322352	25	6124											
PDE1C	5137	broad.mit.edu	37	chr7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaagatctccagctccGtcagccagttctgaaaggag	12	8	10	11	1	3	2	1	1	2	1	5	3	4	3	3	1	3	3	3	1	3	2	rs377062465		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:31890345G>A	ENST00000396191.1	-	8	1216	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_ENST00000396193.1_Missense_Mutation_p.T314M|PDE1C_ENST00000396184.3_Missense_Mutation_p.T254M|PDE1C_ENST00000321453.7_Missense_Mutation_p.T254M|PDE1C_ENST00000396182.2_Missense_Mutation_p.T254M	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	254	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTCCAGCTCCGTCAGCCAGTT	0.463																																						uc003tcm.2																			0		p.L253Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(760-762)aCg>aTg		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	134	121	125		761,761,941,761,761	5.9	1	7		125	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDE1C	NM_001191056.1,NM_001191057.1,NM_001191058.1,NM_001191059.1,NM_005020.2	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	254/635,254/710,314/770,254/710,254/635	31890345	1,13005	2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890345G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.761C>T	7.37:g.31890345G>A	ENSP00000379494:p.Thr254Met					PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.2_Missense_Mutation_p.T314M|PDE1C_uc003tcr.3_Missense_Mutation_p.T254M|PDE1C_uc003tcs.3_Missense_Mutation_p.T254M	p.T254M	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		7	1222	-			254			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.761C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405567	0.83230	2.27E-4	0.0	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.91	5.91	0.95273	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	M	0.93328	3.405	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.977;0.99;0.982	D	0.93800	0.7100	10	0.87932	D	0	.	19.9008	0.96985	0.0:0.0:1.0:0.0	.	254;314;254	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	M	314;254;254;254;254	ENSP00000379496:T314M;ENSP00000379494:T254M;ENSP00000318105:T254M;ENSP00000379487:T254M;ENSP00000379485:T254M	ENSP00000318105:T254M	T	-	2	0	PDE1C	31856870	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	7.863000	0.87023	2.805000	0.96524	0.651000	0.88453	ACG		0.463	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31890345	G	A	31890345	3	1	92	1	0	0	0	0	1	0	0	0	11635	1145	40	1	1183	1	PDE1C	7	31890345	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		31890345	127248318	26	6125											
ABCA13	154664	broad.mit.edu	37	chr7	48556332	48556332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttttcagatatgcaactcTtccatggatgtacctgatgt	10	15	7	9	0	2	2	1	1	1	1	3	3	3	3	2	1	3	2	2	1	3	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:48556332T>C	ENST00000435803.1	+	52	13676	c.13652T>C	c.(13651-13653)cTt>cCt	p.L4551P	ABCA13_ENST00000544596.1_Missense_Mutation_p.L281P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4551					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATGCAACTCTTCCATGGATG	0.378																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13651-13653)cTt>cCt		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							264	257	259					7																	48556332		1882	4105	5987	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556332T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13652T>C	7.37:g.48556332T>C	ENSP00000411096:p.Leu4551Pro					ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	p.L4551P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			51	13676	+			4551					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13652T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323449	0.60634	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.83837	-1.77;-1.77;-1.77	5.35	5.35	0.76521	.	0.171905	0.27134	N	0.020779	D	0.89722	0.6797	M	0.69823	2.125	0.53005	D	0.99996	D;D;D	0.89917	0.984;0.997;1.0	D;D;D	0.77557	0.921;0.959;0.99	D	0.90416	0.4413	10	0.62326	D	0.03	.	13.0808	0.59114	0.0:0.0:0.0:1.0	.	281;2253;4551	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	P	4551;324;281	ENSP00000411096:L4551P;ENSP00000391042:L324P;ENSP00000442634:L281P	ENSP00000391042:L324P	L	+	2	0	ABCA13	48526878	0.543000	0.26434	0.090000	0.20809	0.929000	0.56500	5.153000	0.64888	2.006000	0.58801	0.533000	0.62120	CTT		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48556332	T	C	48556332	3	2	92	1	0	0	0	0	1	0	0	0	31	1609	56	4	13687	4	ABCA13	7	48556332	Missense_Mutation	SNP	T	TCGA-06-5415-01A-01D-1486-08	16665987	48556332	110582331	27	6126											
STEAP2	261729	broad.mit.edu	37	chr7	89856794	89856794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagagatatttgtttctCaacatggcttatcagcaggt	11	14	9	7	0	3	2	3	0	1	2	4	3	3	2	0	2	2	3	0	2	3	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:89856794C>T	ENST00000287908.3	+	3	1395	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	STEAP2_ENST00000394622.2_Silent_p.L334L|STEAP2_ENST00000394621.2_Silent_p.L334L|STEAP2_ENST00000394629.2_Silent_p.L334L|STEAP2_ENST00000394626.1_Silent_p.L334L|STEAP2_ENST00000394632.1_Silent_p.L334L|STEAP2_ENST00000402625.2_Silent_p.L334L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	334	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATTTGTTTCTCAACATGGCTT	0.338																																						uc010len.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1000-1002)ctC>ctT		Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.							57	57	57					7																	89856794		2202	4294	6496	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856794C>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1002C>T	7.37:g.89856794C>T						STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc003uka.3_Silent_p.L334L|STEAP2_uc003ujz.3_Silent_p.L334L|STEAP2_uc003ukc.3_Silent_p.L334L|STEAP2_uc003ukb.3_Silent_p.L334L|STEAP2_uc003ukd.3_Silent_p.L334L	p.L334L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN			3	1508	+	all_hematologic(106;0.112)		334			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.1002C>T	CCDS5615.1																																																																																				0.338	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		T	89856794	C	T	89856794	2	4	92	1	0	0	0	0	0	0	0	1	15277	813	29	3		3	STEAP2	7	89856794	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	41300462	89856794	69281869	28	6127											
ZAN	7455	broad.mit.edu	37	chr7	100382333	100382333	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggccggtgtgagggCgccaaagtcccctctgcctg	5	8	15	13	2	1	1	0	1	1	0	2	2	2	2	5	4	1	0	5	4	1	0	rs377384170		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:100382333C>T	ENST00000348028.3	+	0	6875				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTGTGAGGGCGCCAAAGTCC	0.612																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(6706-6708)ggC>ggT		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.		C	,	1,4223		0,1,2111	61	64	63		6710,6710	2.4	0	7		63	0,8434		0,0,4217	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,1,6328	TT,TC,CC		0.0,0.0237,0.0079	,	2237/2813,2237/2722	100382333	1,12657	2112	4217	6329			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100382333C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100382333C>T						ZAN_uc003uwk.3_Silent_p.G2236G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G287G	p.G2236G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		36	6873	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2237			TIL 4.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6708C>T																																																																																					0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100382333	C	T	100382333	1	4	92	0	1	0	0	0	0	0	0	0	17510	755	27	1		1	ZAN	7	100382333	RNA	SNP	C	TCGA-06-5415-01A-01D-1486-08	10525539	100382333	58756330	29	6128											
IFRD1	3475	broad.mit.edu	37	chr7	112097053	112097053	+	Frame_Shift_Del	DEL	A	A	-																															gaatttattctggaaaggagAatgactttaactgatagcat																										TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:112097053delA	ENST00000403825.3	+	4	630	c.369delA	c.(367-369)agafs	p.R123fs	IFRD1_ENST00000535603.1_Frame_Shift_Del_p.R73fs|IFRD1_ENST00000005558.4_Frame_Shift_Del_p.R123fs|IFRD1_ENST00000429071.1_Frame_Shift_Del_p.R123fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	123					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGGAAAGGAGAATGACTTTAA	0.368																																						uc003vgh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(367-369)agafs		Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.							92	89	90					7																	112097053		2203	4300	6503	SO:0001589	frameshift_variant	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112097053delA	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.369delA	7.37:g.112097053delA	ENSP00000384477:p.Arg123fs					IFRD1_uc011kmn.2_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.3_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.R73fs	p.R123fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN			4	839	+			123					B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Del	DEL	ENST00000403825.3	37	c.369delA	CCDS34736.1																																																																																				0.368	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		-	112097053	A	-	112097053	7	5	92	1	0	1	0	1	0	0	0	0	7553	243	9	0	383	0	IFRD1	7	112097053	Frame_Shift_Del	DEL	A	TCGA-06-5415-01A-01D-1486-08	11714720	112097053	47041610	30	6129											
FLNC	2318	broad.mit.edu	37	chr7	128490536	128490536	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaaggggagctcacAggtactgccctgtggctccc	8	7	14	12	0	1	1	1	0	0	1	2	2	2	2	2	4	4	4	2	4	2	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128490536A>G	ENST00000325888.8	+	32	5658	c.5397A>G	c.(5395-5397)acA>acG	p.T1799T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.T1766T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1799					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGAGCTCACAGGTACTGCCC	0.592																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.e32+1		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							70	77	75					7																	128490536		1948	4145	6093	SO:0001630	splice_region_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490536A>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5398+1A>G	7.37:g.128490536A>G						FLNC_uc003voa.4_Splice_Site_p.G1767_splice	p.G1800_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN			32	5607	+			1800					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5398_splice	CCDS43644.1																																																																																				0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Silent	G	128490536	A	G	128490536	5	3	92	1	0	0	0	0	0	0	1	0	5935	202	7	4	5523	4	FLNC	7	128490536	Splice_Site	SNP	A	TCGA-06-5415-01A-01D-1486-08	16393483	128490536	30648127	31	6130											
FLNC	2318	broad.mit.edu	37	chr7	128493857	128493857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccttccatcgccaccatCggcagcacctgtgacctcaa	9	7	7	18	2	1	1	1	1	0	0	4	1	2	1	6	1	1	3	6	1	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128493857C>T	ENST00000325888.8	+	39	6711	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2117I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2150					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGCCACCATCGGCAGCACCT	0.662																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6448-6450)atC>atT		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							37	48	44					7																	128493857		2120	4236	6356	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493857C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6450C>T	7.37:g.128493857C>T						FLNC_uc003voa.4_Silent_p.I2117I	p.I2150I	NM_001458	NP_001449	Q14315	FLNC_HUMAN			38	6659	+			2150					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.6450C>T	CCDS43644.1																																																																																				0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128493857	C	T	128493857	2	4	92	1	0	0	0	0	0	0	0	1	5935	874	31	2		2	FLNC	7	128493857	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	3321	128493857	30644806	32	6131											
C7orf49	78996	broad.mit.edu	37	chr7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggccttttcctgtttgCggctctgtggagtacgggaa	5	12	14	10	3	1	0	0	0	1	0	2	2	2	2	2	4	2	4	2	4	2	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:134851619C>T	ENST00000393114.3	-	4	399	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000424142.1_Missense_Mutation_p.R18H|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	73						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552																																						uc003vsl.3																			0		p.P72L(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(217-219)cGc>cAc		Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.							58	62	61					7																	134851619		2203	4300	6503	SO:0001583	missense	78996					cytoplasm		g.chr7:134851619C>T	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.218G>A	7.37:g.134851619C>T	ENSP00000376823:p.Arg73His					C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Missense_Mutation_p.R44H|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Missense_Mutation_p.R18H|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Missense_Mutation_p.R18H|C7orf49_uc003vsk.3_3'UTR	p.R73H	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN			3	531	-			73					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.218G>A	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124011	0.20959	.	.	ENSG00000122783	ENST00000435834;ENST00000424142;ENST00000393114;ENST00000430372	.	.	.	5.37	-0.62	0.11567	.	0.459807	0.18826	N	0.130106	T	0.48892	0.1525	M	0.65498	2.005	0.58432	D	0.999997	B;B;B	0.29232	0.238;0.059;0.098	B;B;B	0.22601	0.04;0.013;0.023	T	0.41556	-0.9502	9	0.62326	D	0.03	-2.453	8.3717	0.32419	0.0:0.4697:0.0:0.5303	.	72;73;44	C9JKC7;Q9BWK5;Q9BWK5-2	.;MRI_HUMAN;.	H	18;18;73;72	.	ENSP00000376823:R73H	R	-	2	0	C7orf49	134502159	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.180000	0.03088	-0.197000	0.10350	0.563000	0.77884	CGC		0.552	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		T	134851619	C	T	134851619	3	4	92	1	0	0	0	0	1	0	0	0	2398	768	27	1	259	1	C7orf49	7	134851619	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	6357762	134851619	24287044	33	6132											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138453573	138453573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtcagtgggcttttctcGagcaactgaactacaatctc	9	11	11	10	1	3	1	1	1	2	0	5	2	3	1	0	3	4	2	0	3	4	3	rs137955459		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:138453573G>A	ENST00000310018.2	-	5	525	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ATP6V0A4_ENST00000353492.4_Silent_p.L81L|ATP6V0A4_ENST00000393054.1_Silent_p.L81L|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	81					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTTTTCTCGAGCAACTGAA	0.483																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(241-243)ctC>ctT		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							82	79	80					7																	138453573		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138453573G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.243C>T	7.37:g.138453573G>A						ATP6V0A4_uc003vug.3_Silent_p.L81L|ATP6V0A4_uc003vuh.3_Silent_p.L81L	p.L81L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			3	481	-			81					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.243C>T	CCDS5849.1																																																																																				0.483	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138453573	G	A	138453573	2	1	92	1	0	0	0	0	0	0	0	1	1170	1045	37	2		2	ATP6V0A4	7	138453573	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	3601954	138453573	20685090	34	6133											
KEL	3792	broad.mit.edu	37	chr7	142658446	142658446	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgggatcttgcttaCgagggccacagttctggaag	7	10	16	8	1	3	0	0	0	3	0	3	3	3	2	1	5	2	2	1	5	2	3	rs369569464		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:142658446C>T	ENST00000355265.2	-	3	698		c.e3+1		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	GRCh37	CS012497|CS012498	KEL	S		c.e3+1		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		C		0,4406		0,0,2203	58	57	57			4.4	0.9	7		57	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	KEL	NM_000420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			142658446	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658446C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.223+1G>A	7.37:g.142658446C>T							p.R75_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			3	433	-	Melanoma(164;0.059)		75					B2RBV4|Q96RS8|Q99885	Splice_Site	SNP	ENST00000355265.2	37	c.223_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000416	0.19121	0.0	1.16E-4	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543;ENST00000460479	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4997	0.55948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KEL	142368568	0.890000	0.30428	0.875000	0.34327	0.027000	0.11550	3.682000	0.54656	2.319000	0.78375	0.655000	0.94253	.		0.602	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Intron	T	142658446	C	T	142658446	5	4	92	1	0	0	0	0	0	0	1	0	8142	550	19	1	2042	1	KEL	7	142658446	Splice_Site	SNP	C	TCGA-06-5415-01A-01D-1486-08	4204873	142658446	16480217	35	6134											
FAM83H	286077	broad.mit.edu	37	chr8	144810766	144810766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgcgggccagggccgCggccgagggcacaagcggct	6	3	18	14	5	0	0	0	0	0	0	1	1	1	0	4	5	2	2	4	5	1	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144810766C>T	ENST00000388913.3	-	5	990	c.865G>A	c.(865-867)Gcg>Acg	p.A289T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	289					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGGGCCGCGGCCGAGGGC	0.711																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(865-867)Gcg>Acg		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							11	14	13					8																	144810766		1967	4118	6085	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810766C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.865G>A	8.37:g.144810766C>T	ENSP00000373565:p.Ala289Thr						p.A289T	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	934	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		289					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.865G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	6.506	0.461530	0.12342	.	.	ENSG00000180921	ENST00000388913	T	0.14266	2.52	4.75	3.87	0.44632	.	0.513654	0.16372	N	0.217274	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.39840	-0.9594	10	0.14656	T	0.56	.	6.8643	0.24084	0.0:0.7123:0.0:0.2877	.	289	Q6ZRV2	FA83H_HUMAN	T	289	ENSP00000373565:A289T	ENSP00000373565:A289T	A	-	1	0	FAM83H	144882754	0.000000	0.05858	0.907000	0.35723	0.218000	0.24690	0.991000	0.29654	1.110000	0.41699	-0.254000	0.11334	GCG		0.711	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144810766	C	T	144810766	3	4	92	1	0	0	0	0	1	0	0	0	5640	768	27	1	2678	1	FAM83H	8	144810766	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		144810766	1553256	36	6135											
EPPK1	83481	broad.mit.edu	37	chr8	144940597	144940597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctcaggttgcgcacGgggtcgatgacgaagccggt	8	6	16	11	5	1	1	1	1	0	0	2	4	1	1	2	4	3	2	2	4	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144940597G>A	ENST00000525985.1	-	2	6896	c.6825C>T	c.(6823-6825)ccC>ccT	p.P2275P				P58107	EPIPL_HUMAN	epiplakin 1	2275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTGCGCACGGGGTCGATGA	0.721																																						uc003zaa.1																			0		p.D2274D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6823-6825)ccC>ccT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							50	47	48					8																	144940597		2163	4239	6402	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940597G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6825C>T	8.37:g.144940597G>A							p.P2275P	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6838	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2275					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6825C>T																																																																																					0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940597	G	A	144940597	2	1	92	1	0	0	0	0	0	0	0	1	5190	1103	39	2		2	EPPK1	8	144940597	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	129831	144940597	1423425	37	6136											
MKX	283078	broad.mit.edu	37	chr10	27964299	27964299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagctgcgttgatctcCttccaatacgtgtcatcctt	7	14	7	13	2	2	1	1	1	1	0	5	1	4	1	4	0	3	2	4	0	3	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:27964299C>T	ENST00000375790.5	-	7	1350	c.918G>A	c.(916-918)aaG>aaA	p.K306K	MKX_ENST00000419761.1_Silent_p.K306K			Q8IYA7	MKX_HUMAN	mohawk homeobox	306					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTTGATCTCCTTCCAATACG	0.458																																						uc001ity.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(916-918)aaG>aaA		Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.							268	235	246					10																	27964299		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964299C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.918G>A	10.37:g.27964299C>T						MKX_uc001itx.4_Silent_p.K306K	p.K306K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			6	1143	-			306					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.918G>A	CCDS7156.1																																																																																				0.458	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		T	27964299	C	T	27964299	2	4	92	1	0	0	0	0	0	0	0	1	9610	680	24	3		3	MKX	10	27964299	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08		27964299	107570448	38	6137											
C10orf12	26148	broad.mit.edu	37	chr10	98741746	98741746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactttttcaatggtgactGttgtgagctgccaactgttc	8	16	9	8	0	1	2	1	2	0	0	2	2	1	2	1	1	4	3	1	1	3	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:98741746G>A	ENST00000286067.2	+	1	706	c.599G>A	c.(598-600)tGt>tAt	p.C200Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	200										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGTGACTGTTGTGAGCTG	0.423																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(598-600)tGt>tAt		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							92	91	91					10																	98741746		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741746G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.599G>A	10.37:g.98741746G>A	ENSP00000286067:p.Cys200Tyr					C10orf12_uc009xvg.2_Missense_Mutation_p.C510Y	p.C200Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	706	+		Colorectal(252;0.172)	200					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.599G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012574	0.54468	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09723	2.95	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000039	T	0.18045	0.0433	N	0.24115	0.695	0.37020	D	0.896151	D;D	0.60575	0.976;0.988	P;P	0.61800	0.894;0.81	T	0.02138	-1.1207	10	0.87932	D	0	-6.3714	13.5545	0.61751	0.0708:0.0:0.9292:0.0	.	34;200	A0PJI9;Q8N655	.;CJ012_HUMAN	Y	200;34	ENSP00000286067:C200Y	ENSP00000286067:C200Y	C	+	2	0	C10orf12	98731736	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.937000	0.48979	2.822000	0.97130	0.655000	0.94253	TGT		0.423	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		A	98741746	G	A	98741746	3	1	92	1	0	0	0	0	1	0	0	0	1589	1377	48	3	601	3	C10orf12	10	98741746	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	70777447	98741746	36793001	39	6138											
MMP10	4319	broad.mit.edu	37	chr11	102647144	102647144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggttcctcagtagaggCagggggaggtcctaaaggaa	11	6	17	7	0	1	1	1	0	0	1	3	3	3	3	2	7	0	3	2	7	4	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:102647144C>T	ENST00000279441.4	-	6	835	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	267					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TCAGTAGAGGCAGGGGGAGGT	0.468																																						uc001phg.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(799-801)Gcc>Acc		Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.							67	65	66					11																	102647144		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647144C>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.799G>A	11.37:g.102647144C>T	ENSP00000279441:p.Ala267Thr						p.A267T	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	836	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	267					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.799G>A	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912352	0.17907	.	.	ENSG00000166670	ENST00000279441	T	0.12672	2.66	4.27	-2.62	0.06152	Metallopeptidase, catalytic domain (1);	1.248850	0.05927	N	0.634423	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40813	-0.9543	10	0.16896	T	0.51	.	4.4459	0.11597	0.3405:0.1876:0.0:0.4719	.	267	P09238	MMP10_HUMAN	T	267	ENSP00000279441:A267T	ENSP00000279441:A267T	A	-	1	0	MMP10	102152354	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.878000	0.04192	-0.638000	0.05509	0.650000	0.86243	GCC		0.468	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			T	102647144	C	T	102647144	3	4	92	1	0	0	0	0	1	0	0	0	9649	710	25	3	651	3	MMP10	11	102647144	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		102647144	32359372	40	6139											
DDX25	29118	broad.mit.edu	37	chr11	125787056	125787056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaacatccggcaatattaCgtgctgtgtgagcacaggaa	14	8	10	9	2	0	1	0	1	0	0	1	2	1	2	1	2	5	3	1	2	6	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:125787056C>T	ENST00000263576.6	+	9	1103	c.948C>T	c.(946-948)taC>taT	p.Y316Y	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	316	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGCAATATTACGTGCTGTGTG	0.478																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(946-948)taC>taT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							64	63	63					11																	125787056		2129	4252	6381	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125787056C>T	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.948C>T	11.37:g.125787056C>T						DDX25_uc010sbk.2_Silent_p.Y316Y	p.Y316Y	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	8	1089	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	316			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.948C>T	CCDS44766.1																																																																																				0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		T	125787056	C	T	125787056	2	4	92	1	0	0	0	0	0	0	0	1	4352	547	19	1		1	DDX25	11	125787056	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	23139912	125787056	9219460	41	6140											
ITPR2	3709	broad.mit.edu	37	chr12	26864181	26864181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtcctgcacccccacgGcatgggtcatgatgaaccac	9	7	9	16	1	1	2	1	2	0	0	2	2	2	2	4	2	2	2	4	2	1	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:26864181G>A	ENST00000381340.3	-	9	1292	c.876C>T	c.(874-876)tgC>tgT	p.C292C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	292					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACCCCCACGGCATGGGTCAT	0.433																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(874-876)tgC>tgT		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							93	90	91					12																	26864181		2008	4178	6186	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26864181G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.876C>T	12.37:g.26864181G>A							p.C292C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			8	1293	-	Colorectal(261;0.0847)		292					O94773	Silent	SNP	ENST00000381340.3	37	c.876C>T	CCDS41764.1																																																																																				0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26864181	G	A	26864181	2	1	92	1	0	0	0	0	0	0	0	1	7921	1195	42	3		3	ITPR2	12	26864181	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		26864181	106987714	42	6141											
PRPF40B	25766	broad.mit.edu	37	chr12	50028946	50028946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaaggcgcagcgggagaagGaggagaaggaggaggcccgg	13	0	21	7	3	0	2	0	0	0	2	0	7	0	5	1	8	1	1	1	8	3	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:50028946G>C	ENST00000380281.1	+	12	1064	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E328Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E356Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	334					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCGGGAGAAGGAGGAGAAGGA	0.582																																						uc001rur.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1000-1002)Gag>Cag		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.							49	49	49					12																	50028946		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50028946G>C	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1000G>C	12.37:g.50028946G>C	ENSP00000369634:p.Glu334Gln					PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	p.E334Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			11	1063	+			334					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1000G>C		.	.	.	.	.	.	.	.	.	.	G	29.6	5.018560	0.93404	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.26810	1.72;1.71	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000007	T	0.48040	0.1478	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.987;0.982;1.0	D;P;D	0.80764	0.911;0.886;0.994	T	0.22068	-1.0227	9	.	.	.	-23.3935	17.8835	0.88848	0.0:0.0:1.0:0.0	.	334;328;334	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	328;334	ENSP00000261897:E328Q;ENSP00000369634:E334Q	.	E	+	1	0	PRPF40B	48315213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.061000	0.93913	2.843000	0.97960	0.655000	0.94253	GAG		0.582	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		C	50028946	G	C	50028946	3	2	92	1	0	0	0	0	1	0	0	0	12572	1175	41	5	1046	5	PRPF40B	12	50028946	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	23164765	50028946	83822949	43	6142											
CAPS2	84698	broad.mit.edu	37	chr12	75692734	75692734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagctctctgcaagcAtcacgtccattactggaaaa	13	9	7	12	1	2	1	1	1	1	0	4	2	3	2	2	1	4	3	2	1	5	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:75692734A>C	ENST00000409445.3	-	11	1120	c.924T>G	c.(922-924)gaT>gaG	p.D308E	CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.D76E|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	308							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTCTGCAAGCATCACGTCCAT	0.308																																						uc001sxl.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(865-867)gaT>gaG		Homo sapiens calcyphosine 2 (CAPS2), mRNA.							73	72	73					12																	75692734		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692734A>C	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.924T>G	12.37:g.75692734A>C	ENSP00000386959:p.Asp308Glu					CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Missense_Mutation_p.D308E	p.D289E	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			9	896	-			308					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.867T>G	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880198	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.80738	-1.41;-1.41	5.63	3.25	0.37280	.	0.135098	0.49305	N	0.000153	D	0.82513	0.5053	M	0.70903	2.155	0.80722	D	1	D;D	0.56521	0.976;0.968	P;P	0.52217	0.693;0.656	T	0.80966	-0.1146	10	0.66056	D	0.02	-14.5169	8.2754	0.31868	0.7968:0.1342:0.069:0.0	.	76;308	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	E	308;76	ENSP00000386959:D308E;ENSP00000376963:D76E	ENSP00000376963:D76E	D	-	3	2	CAPS2	73979001	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.191000	0.50981	0.412000	0.25729	0.523000	0.50628	GAT		0.308	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			C	75692734	A	C	75692734	3	2	92	1	0	0	0	0	1	0	0	0	2638	214	8	5	781	5	CAPS2	12	75692734	Missense_Mutation	SNP	A	TCGA-06-5415-01A-01D-1486-08	25663788	75692734	58159161	44	6143											
NT5DC3	51559	broad.mit.edu	37	chr12	104186945	104186945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaataaacactcacctcCgcttatcattaaagaagttt	17	11	4	9	1	2	1	2	0	0	1	3	2	3	1	2	0	1	2	2	0	8	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:104186945C>T	ENST00000392876.3	-	9	1056	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	339						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CACTCACCTCCGCTTATCATT	0.403																																						uc010swe.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1015-1017)cGg>cAg		Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.							139	147	144					12																	104186945		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104186945C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1016G>A	12.37:g.104186945C>T	ENSP00000376615:p.Arg339Gln						p.R339Q	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			8	1057	-			339					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1016G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060491	0.93846	.	.	ENSG00000111696	ENST00000392876	T	0.22539	1.95	5.95	5.95	0.96441	HAD-like domain (1);	0.047041	0.85682	D	0.000000	T	0.17066	0.0410	L	0.31752	0.955	0.58432	D	0.999999	P	0.35628	0.513	B	0.30105	0.111	T	0.02868	-1.1100	10	0.29301	T	0.29	.	18.5772	0.91159	0.0:1.0:0.0:0.0	.	339	Q86UY8	NT5D3_HUMAN	Q	339	ENSP00000376615:R339Q	ENSP00000376615:R339Q	R	-	2	0	NT5DC3	102711075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.829000	0.97493	0.655000	0.94253	CGG		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		T	104186945	C	T	104186945	3	4	92	1	0	0	0	0	1	0	0	0	10692	652	23	2	654	2	NT5DC3	12	104186945	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	28494211	104186945	29664950	45	6144											
NOS1	4842	broad.mit.edu	37	chr12	117710315	117710315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggagcatgttggacaCggcggggaggccgtaccact	8	7	15	11	3	1	0	0	0	1	0	1	3	1	3	2	6	2	3	2	6	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:117710315C>T	ENST00000338101.4	-	9	1718	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	NOS1_ENST00000317775.6_Missense_Mutation_p.V572M|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V572M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATGTTGGACACGGCGGGGAGG	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			1	Substitution - Missense(1)	p.V572M(2)|p.A571A(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1714-1716)Gtg>Atg		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						53	59	57					12																	117710315		2182	4298	6480	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117710315C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1714G>A	12.37:g.117710315C>T	ENSP00000337459:p.Val572Met					NOS1_uc021ren.1_Missense_Mutation_p.V236M|NOS1_uc021reo.1_Missense_Mutation_p.V236M|NOS1_uc001twm.2_Missense_Mutation_p.V572M	p.V572M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	9	2425	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		572						Missense_Mutation	SNP	ENST00000338101.4	37	c.1714G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090012	0.94149	.	.	ENSG00000089250	ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.52754	0.65;0.65	4.85	4.85	0.62838	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84250	0.0477	10	0.87932	D	0	-20.5176	18.1863	0.89793	0.0:1.0:0.0:0.0	.	572	P29475	NOS1_HUMAN	M	572	ENSP00000320758:V572M;ENSP00000337459:V572M	ENSP00000320758:V572M	V	-	1	0	NOS1	116194698	1.000000	0.71417	0.953000	0.39169	0.958000	0.62258	7.651000	0.83577	2.514000	0.84764	0.655000	0.94253	GTG		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117710315	C	T	117710315	3	4	92	1	0	0	0	0	1	0	0	0	10541	536	19	1	2670	1	NOS1	12	117710315	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	13523370	117710315	16141580	46	6145											
TMEM132D	121256	broad.mit.edu	37	chr12	130015732	130015732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgccgatgatgttcacGcctttcttcacctttgccct	5	13	7	16	4	3	1	2	1	1	0	3	2	3	1	4	0	1	2	4	0	0	4	rs147002439	byFrequency	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:130015732G>A	ENST00000422113.2	-	3	1313	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	329					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGATGTTCACGCCTTTCTTCA	0.557													G|||	2	0.000399361	0	0	5008	,	,		17746	0.001		0	False		,,,				2504	0.001					uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(985-987)ggC>ggT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.		G		0,4406		0,0,2203	126	122	124		987	-5.5	0	12	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM132D	NM_133448.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		329/1100	130015732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130015732G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.987C>T	12.37:g.130015732G>A							p.G329G	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1315	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	329					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.987C>T	CCDS9266.1																																																																																				0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130015732	G	A	130015732	2	1	92	1	0	0	0	0	0	0	0	1	16044	1074	38	1		1	TMEM132D	12	130015732	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	12305417	130015732	3836163	47	6146											
SERPINA10	51156	broad.mit.edu	37	chr14	94756360	94756360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgaaaattcataggcaCgcactctgtatcaaaatacc	15	10	6	10	2	3	0	2	0	1	0	3	1	3	0	1	1	2	3	1	1	7	5	rs533103231		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr14:94756360C>T	ENST00000393096.1	-	2	1036	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	SERPINA10_ENST00000554723.1_Missense_Mutation_p.V231M|SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191M	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	191					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418																																						uc001yct.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(571-573)Gtg>Atg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.							91	93	92					14																	94756360		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756360C>T	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.571G>A	14.37:g.94756360C>T	ENSP00000376809:p.Val191Met					SERPINA10_uc001ycu.4_Missense_Mutation_p.V191M	p.V191M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	1	1037	-		all_cancers(154;0.105)	191					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.571G>A	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895800	0.17686	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.8	1.89	0.25635	Serpin domain (3);	0.378221	0.21157	N	0.079223	D	0.86070	0.5845	L	0.55743	1.74	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.75227	-0.3392	10	0.66056	D	0.02	.	2.587	0.04833	0.2354:0.4836:0.1284:0.1527	.	191	Q9UK55	ZPI_HUMAN	M	231;191;191;191	ENSP00000450896:V231M;ENSP00000376809:V191M;ENSP00000261994:V191M;ENSP00000450971:V191M	ENSP00000261994:V191M	V	-	1	0	SERPINA10	93826113	0.000000	0.05858	0.003000	0.11579	0.131000	0.20780	-0.018000	0.12568	0.431000	0.26258	0.313000	0.20887	GTG		0.418	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94756360	C	T	94756360	3	4	92	1	0	0	0	0	1	0	0	0	14087	536	19	1	779	1	SERPINA10	14	94756360	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		94756360	12593180	48	6147											
CILP	8483	broad.mit.edu	37	chr15	65489345	65489345	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtgccatcaaagcaccgGccgagcgcgatctccttggc	8	7	12	14	4	2	0	1	0	1	0	3	3	2	0	4	2	3	1	4	2	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:65489345G>T	ENST00000261883.4	-	9	3445	c.3279C>A	c.(3277-3279)ggC>ggA	p.G1093G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1093					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAAAGCACCGGCCGAGCGCGA	0.582																																						uc002aon.2																			0		p.L1092L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3277-3279)ggC>ggA		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							74	53	60					15																	65489345		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489345G>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3279C>A	15.37:g.65489345G>T							p.G1093G	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	3460	-			1093					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.3279C>A	CCDS10203.1																																																																																				0.582	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65489345	G	T	65489345	2	4	92	1	0	0	0	0	0	0	0	1	3429	1190	42	5		5	CILP	15	65489345	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		65489345	37042047	49	6148											
SV2B	9899	broad.mit.edu	37	chr15	91835641	91835641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggattatgcaaatttggCgccatcctgggaaacaccat	13	10	9	9	1	0	0	0	0	0	0	1	2	1	2	3	3	2	1	3	3	4	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:91835641C>T	ENST00000394232.1	+	13	2381	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	SV2B_ENST00000330276.4_Silent_p.G637G|SV2B_ENST00000545111.2_Silent_p.G486G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	637					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCAAATTTGGCGCCATCCTGG	0.463																																						uc002bqv.3																			0		p.F636F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1909-1911)ggC>ggT		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.							144	133	137					15																	91835641		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835641C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1911C>T	15.37:g.91835641C>T						SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.G486G	p.G637G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		13	2802	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		637					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1911C>T	CCDS10370.1																																																																																				0.463	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91835641	C	T	91835641	2	4	92	1	0	0	0	0	0	0	0	1	15415	755	27	1		1	SV2B	15	91835641	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	26346296	91835641	10695751	50	6149											
MSLNL	401827	broad.mit.edu	37	chr16	822701	822701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccggagctcctggggatgGatggtctggatctggtgagg	6	9	18	8	1	2	1	0	1	2	0	3	5	3	5	2	8	1	1	2	8	0	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:822701G>A	ENST00000442466.1	-	11	1352	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	MSLNL_ENST00000293892.3_Silent_p.I802I|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	451					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGGGGATGGATGGTCTGGA	0.647																																						uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2404-2406)atC>atT		Homo sapiens mesothelin-like (MSLNL), mRNA.							18	23	21					16																	822701		1977	4147	6124	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:822701G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1353C>T	16.37:g.822701G>A							p.I802I	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			11	2406	-			451						Silent	SNP	ENST00000442466.1	37	c.2406C>T																																																																																					0.647	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		A	822701	G	A	822701	2	1	92	1	0	0	0	0	0	0	0	1	9882	1164	41	3		3	MSLNL	16	822701	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		822701	89532052	51	6150											
ERCC4	2072	broad.mit.edu	37	chr16	14024621	14024621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggagccaagactaaaTccttagttcaggatttgaag	13	11	10	7	0	1	2	1	1	0	1	2	4	2	4	2	2	2	2	2	2	5	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:14024621T>A	ENST00000311895.7	+	5	856	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ERCC4_ENST00000575156.1_Missense_Mutation_p.S283T|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	283	Helicase-like.|Leucine-zipper 2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAGACTAAATCCTTAGTTCA	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(847-849)Tcc>Acc	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.							93	84	87					16																	14024621		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14024621T>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.847T>A	16.37:g.14024621T>A	ENSP00000310520:p.Ser283Thr					ERCC4_uc010bva.3_Missense_Mutation_p.S283T	p.S283T	NM_005236	NP_005227	Q92889	XPF_HUMAN			4	856	+			283			Leucine-zipper 2.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.847T>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973802	0.53720	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.62941	-0.01	5.9	5.9	0.94986	.	0.046660	0.85682	D	0.000000	T	0.50633	0.1627	N	0.19112	0.55	0.58432	D	0.999995	P;P	0.47910	0.902;0.791	B;B	0.44133	0.442;0.297	T	0.48317	-0.9046	10	0.22706	T	0.39	-26.4696	15.5133	0.75802	0.0:0.0:0.0:1.0	.	283;283	A5PKV6;Q92889	.;XPF_HUMAN	T	283;272;272	ENSP00000310520:S283T	ENSP00000310520:S283T	S	+	1	0	ERCC4	13932122	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.030000	0.64128	2.251000	0.74343	0.528000	0.53228	TCC		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14024621	T	A	14024621	3	1	92	1	0	0	0	0	1	0	0	0	5215	1435	50	5	865	5	ERCC4	16	14024621	Missense_Mutation	SNP	T	TCGA-06-5415-01A-01D-1486-08	13201920	14024621	76330132	52	6151											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126333	19126333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgccactgcgcctcccgCcgcttgtggcgctggagcca	3	8	14	16	4	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	0	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:19126333C>G	ENST00000381440.3	+	1	1080	c.550C>G	c.(550-552)Ccg>Gcg	p.P184A	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	184						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGCCTCCCGCCGCTTGTGGC	0.697											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dfu.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(550-552)Ccg>Gcg		Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.							9	12	11					16																	19126333		2044	4052	6096	SO:0001583	missense	162073					integral to membrane		g.chr16:19126333C>G		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.550C>G	16.37:g.19126333C>G	ENSP00000370849:p.Pro184Ala		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	ITPRIPL2_uc002dft.3_5'UTR	p.P184A	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN			0	1080	+			184						Missense_Mutation	SNP	ENST00000381440.3	37	c.550C>G	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636497	0.67130	.	.	ENSG00000205730	ENST00000381440	T	0.14766	2.48	4.67	4.67	0.58626	.	0.130592	0.32563	U	0.005924	T	0.15219	0.0367	N	0.24115	0.695	0.42349	D	0.992361	P	0.51791	0.948	P	0.48738	0.588	T	0.07481	-1.0770	10	0.30078	T	0.28	-22.0837	17.5536	0.87884	0.0:1.0:0.0:0.0	.	184	Q3MIP1	IPIL2_HUMAN	A	184	ENSP00000370849:P184A	ENSP00000370849:P184A	P	+	1	0	ITPRIPL2	19033834	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	4.253000	0.58791	2.137000	0.66172	0.655000	0.94253	CCG		0.697	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		G	19126333	C	G	19126333	3	3	92	1	0	0	0	0	1	0	0	0	7925	739	26	5	552	5	ITPRIPL2	16	19126333	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	5101712	19126333	71228420	53	6152											
RANBP10	57610	broad.mit.edu	37	chr16	67763893	67763893	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccctgggtagaagcGctgggtggtctcgatggcct	6	8	16	11	2	1	1	0	0	1	1	2	2	1	1	2	4	3	3	2	4	2	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:67763893G>C	ENST00000317506.3	-	8	1061	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	RANBP10_ENST00000602677.1_Missense_Mutation_p.R316G|RANBP10_ENST00000536251.1_Missense_Mutation_p.R87G|RANBP10_ENST00000448631.2_Missense_Mutation_p.R260G|RANBP10_ENST00000411657.2_Missense_Mutation_p.R199G	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	316	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTAGAAGCGCTGGGTGGTC	0.632																																						uc002eud.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(946-948)Cgc>Ggc		Homo sapiens RAN binding protein 10 (RANBP10), mRNA.							93	82	85					16																	67763893		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67763893G>C	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.946C>G	16.37:g.67763893G>C	ENSP00000316589:p.Arg316Gly					RANBP10_uc010ceo.3_Missense_Mutation_p.R87G|RANBP10_uc010vju.2_Missense_Mutation_p.R260G|RANBP10_uc010vjv.2_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	p.R316G	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	7	1062	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	316			CTLH.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.946C>G	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335958	0.60853	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	6.07	5.11	0.69529	CTLH, C-terminal LisH motif (2);	0.162443	0.56097	D	0.000024	T	0.58308	0.2113	L	0.39898	1.24	0.80722	D	1	B;B;B	0.27910	0.182;0.073;0.193	B;B;B	0.36418	0.095;0.08;0.224	T	0.58103	-0.7695	9	0.46703	T	0.11	-19.1614	13.5493	0.61723	0.0725:0.0:0.9275:0.0	.	199;260;316	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	G	316;260;87;199	.	ENSP00000316589:R316G	R	-	1	0	RANBP10	66321394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.438000	0.97539	1.577000	0.49804	0.655000	0.94253	CGC		0.632	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		C	67763893	G	C	67763893	3	2	92	1	0	0	0	0	1	0	0	0	13026	1087	38	5	944	5	RANBP10	16	67763893	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	48637560	67763893	22590860	54	6153											
DNAH2	146754	broad.mit.edu	37	chr17	7671485	7671485	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacttttgctcaggacCgaaactgggaaattattgaa	13	10	8	10	1	1	1	1	1	0	0	1	4	1	3	3	2	3	1	3	2	5	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr17:7671485C>T	ENST00000572933.1	+	24	5301	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1281*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1281	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCTCAGGACCGAAACTGGGA	0.547																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3841-3843)Cga>Tga		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							127	134	132					17																	7671485		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7671485C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3841C>T	17.37:g.7671485C>T	ENSP00000458355:p.Arg1281*						p.R1281*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			22	3855	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1281			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.3841C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.698272	0.98918	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.26	3.27	0.37495	.	0.639994	0.13888	N	0.355797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3906	0.44166	0.355:0.645:0.0:0.0	.	.	.	.	X	1281	.	ENSP00000353818:R1281X	R	+	1	2	DNAH2	7612210	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	2.745000	0.47459	0.751000	0.32900	0.561000	0.74099	CGA		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7671485	C	T	7671485	4	4	92	1	0	0	0	0	0	1	0	0	4602	644	23	2	3931	2	DNAH2	17	7671485	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		7671485	73523725	55	6154											
DSG1	1828	broad.mit.edu	37	chr18	28913591	28913591	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtaagaggctctgacCgagatggcggggcagatggc	8	8	17	8	2	1	4	0	1	1	3	1	5	1	4	1	5	1	4	1	5	1	2	rs568609861		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr18:28913591C>T	ENST00000257192.4	+	7	936	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGCTCTGACCGAGATGGCGG	0.428																																						uc002kwp.3																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(724-726)Cga>Tga		Homo sapiens desmoglein 1 (DSG1), mRNA.							133	120	124					18																	28913591		2203	4300	6503	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913591C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.724C>T	18.37:g.28913591C>T	ENSP00000257192:p.Arg242*						p.R242*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		6	936	+			242			Cadherin 2.		B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.724C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856665	0.71834	.	.	ENSG00000134760	ENST00000257192	.	.	.	5.82	-4.55	0.03441	.	0.245803	0.27871	N	0.017502	.	.	.	.	.	.	0.39368	D	0.966044	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	23.0013	0.99978	0.8461:0.1538:0.0:0.0	.	.	.	.	X	242	.	ENSP00000257192:R242X	R	+	1	2	DSG1	27167589	0.006000	0.16342	0.673000	0.29887	0.039000	0.13416	-0.974000	0.03794	-0.574000	0.05990	-0.152000	0.13540	CGA		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28913591	C	T	28913591	4	4	92	1	0	0	0	0	0	1	0	0	4776	644	23	2	750	2	DSG1	18	28913591	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		28913591	49163657	56	6155											
MUC16	94025	broad.mit.edu	37	chr19	8996490	8996490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtcccatccttttcAggcctggagagggcaggtga	6	10	15	10	0	1	2	1	1	0	1	3	3	3	2	3	5	0	2	3	5	0	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:8996490A>G	ENST00000397910.4	-	61	41285	c.41082T>C	c.(41080-41082)ccT>ccC	p.P13694P	MUC16_ENST00000380951.5_Silent_p.P335P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13696	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCCTTTTCAGGCCTGGAGA	0.542																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41080-41082)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							52	47	49					19																	8996490		1889	4114	6003	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8996490A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41082T>C	19.37:g.8996490A>G						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.P511P|MUC16_uc021uog.1_Non-coding_Transcript	p.P13694P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			60	41286	-			13696	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41082T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.210	-0.161856	0.06502	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.36	-6.73	0.01749	.	.	.	.	.	T	0.19287	0.0463	.	.	.	.	.	.	.	.	.	.	.	.	T	0.21552	-1.0242	3	.	.	.	-2.1149	4.5103	0.11908	0.1776:0.1387:0.5467:0.1369	.	.	.	.	P	534	.	.	L	-	2	0	MUC16	8857490	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.414000	0.00237	-2.006000	0.00958	-0.560000	0.04181	CTG		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	8996490	A	G	8996490	2	3	92	1	0	0	0	0	0	0	0	1	9973	175	7	4		4	MUC16	19	8996490	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08		8996490	50132493	57	6156											
RASAL3	64926	broad.mit.edu	37	chr19	15571922	15571922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccggttctgtttttccAggcatccgatctgtgggtcg	3	15	12	11	3	3	0	0	0	3	0	7	1	5	0	3	3	0	3	3	3	0	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:15571922A>G	ENST00000343625.7	-	5	640	c.555T>C	c.(553-555)ccT>ccC	p.P185P	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	185					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGTTTTTCCAGGCATCCGAT	0.582																																						uc002nbe.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(553-555)ccT>ccC		Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.							55	55	55					19																	15571922		1910	4106	6016	SO:0001819	synonymous_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15571922A>G		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.555T>C	19.37:g.15571922A>G							p.P185P	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			4	641	-			185					Q8N2T9|Q9H735	Silent	SNP	ENST00000343625.7	37	c.555T>C	CCDS46006.1																																																																																				0.582	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		G	15571922	A	G	15571922	2	3	92	1	0	0	0	0	0	0	0	1	13065	175	7	4		4	RASAL3	19	15571922	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	6575432	15571922	43557061	58	6157											
ZNF507	22847	broad.mit.edu	37	chr19	32847587	32847609	+	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG	-																															accttgtcaatagcaacttcTaatgagccaagaatttccag																										TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	ENST00000311921.4	+	3	2385_2407	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	c.(2191-2217)tctaatgagccaagaatttccagtgatfs	p.NEPRISSD732fs	ZNF507_ENST00000544431.1_Frame_Shift_Del_p.NEPRISSD732fs|ZNF507_ENST00000355898.5_Frame_Shift_Del_p.NEPRISSD732fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA	0.381																																						uc002nte.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(2191-2217)tctaatgagccaagaatttccagtgatfs		Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	19.37:g.32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	ENSP00000312277:p.Asn732fs					ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.S731fs	p.S731fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN			3	2465_2487	+	Esophageal squamous(110;0.162)		731					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Frame_Shift_Del	DEL	ENST00000311921.4	37	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	CCDS32985.1																																																																																				0.381	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		-	32847609	TAATGAGCCAAGAATTTCCAGTG	-	32847587	7	5	92	1	0	1	0	1	0	0	0	0	17950	1509	53	0	2199	0	ZNF507	19	32847587	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TCGA-06-5415-01A-01D-1486-08	17275665	32847587	26281396	59	6158											
OPA3	80207	broad.mit.edu	37	chr19	46056784	46056784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctcctatttcttggaCgcaggcactgcgtgggaagc	8	9	13	11	2	1	0	0	0	1	0	2	2	2	2	1	3	3	4	1	3	3	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:46056784C>T	ENST00000263275.4	-	2	582	c.528G>A	c.(526-528)gcG>gcA	p.A176A	OPA3_ENST00000544371.1_Silent_p.A123A|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	176					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATTTCTTGGACGCAGGCACTG	0.637																																						uc002pcj.4																			0				cervix(1)|large_intestine(1)|lung(2)	4								Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							49	55	53					19																	46056784		2172	4241	6413	SO:0001819	synonymous_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056784C>T	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.528G>A	19.37:g.46056784C>T						OPA3_uc002pck.4_Silent_p.A176A|OPA3_uc010xxk.2_Silent_p.A123A		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)			-		Ovarian(192;0.051)|all_neural(266;0.112)						Q6P384|Q8N784	Silent	SNP	ENST00000263275.4	37		CCDS12668.1																																																																																				0.637	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			T	46056784	C	T	46056784	2	4	92	1	0	0	0	0	0	0	0	1	10872	523	19	1		1	OPA3	19	46056784	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	13209197	46056784	13072199	60	6159											
CCDC114	93233	broad.mit.edu	37	chr19	48805978	48805978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttctccagctgtccccGcacatcctggaagcgggcct	6	8	11	16	2	1	0	0	0	1	0	4	2	3	1	5	2	3	3	5	2	1	1	rs200690633		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:48805978G>A	ENST00000315396.7	-	10	1784	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	368					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTGTCCCCGCACATCCTGG	0.647																																						uc002pir.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1102-1104)Cgg>Tgg		Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	49	47	48		1102	-1.2	0	19		48	0,8600		0,0,4300	yes	missense	CCDC114	NM_144577.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	368/671	48805978	1,13005	2203	4300	6503	SO:0001583	missense	93233							g.chr19:48805978G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1102C>T	19.37:g.48805978G>A	ENSP00000318429:p.Arg368Trp					CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.3_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	p.R368W	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	9	1785	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	368					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1102C>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	g	14.26	2.481199	0.44147	2.27E-4	0.0	ENSG00000105479	ENST00000315396	T	0.25085	1.82	3.88	-1.25	0.09405	.	0.277154	0.19264	N	0.118599	T	0.27205	0.0667	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.67725	0.738;0.953;0.738	T	0.10683	-1.0619	10	0.66056	D	0.02	-8.3772	1.5408	0.02554	0.1168:0.1834:0.3475:0.3523	.	161;368;368	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	W	368	ENSP00000318429:R368W	ENSP00000318429:R368W	R	-	1	2	CCDC114	53497790	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.219000	0.17641	0.051000	0.15978	0.538000	0.68166	CGG		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		A	48805978	G	A	48805978	3	1	92	1	0	0	0	0	1	0	0	0	2751	1086	38	1	930	1	CCDC114	19	48805978	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	2749194	48805978	10323005	61	6160											
CA11	770	broad.mit.edu	37	chr19	49143426	49143426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccaaacagcagccgcaGttcactgagtcggtggctgt	9	8	12	12	2	1	1	1	1	0	0	3	1	2	1	2	2	4	5	2	2	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:49143426G>C	ENST00000084798.4	-	4	1076	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	133						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGCAGCCGCAGTTCACTGAGT	0.592																																						uc002pjz.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(397-399)Ctg>Gtg		Homo sapiens carbonic anhydrase XI (CA11), mRNA.							81	76	78					19																	49143426		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143426G>C	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.397C>G	19.37:g.49143426G>C	ENSP00000084798:p.Leu133Val					SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.L133V	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	3	959	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	133					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.397C>G	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505831	0.26949	.	.	ENSG00000063180	ENST00000084798	T	0.69435	-0.4	3.56	1.36	0.22044	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.190129	0.35151	N	0.003401	T	0.43656	0.1257	N	0.17082	0.46	0.32521	N	0.536236	B	0.19200	0.034	B	0.20955	0.032	T	0.36138	-0.9760	10	0.45353	T	0.12	.	4.2577	0.10726	0.1222:0.0:0.6526:0.2252	.	133	O75493	CAH11_HUMAN	V	133	ENSP00000084798:L133V	ENSP00000084798:L133V	L	-	1	2	CA11	53835238	0.997000	0.39634	0.981000	0.43875	0.993000	0.82548	0.414000	0.21164	0.323000	0.23307	0.462000	0.41574	CTG		0.592	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		C	49143426	G	C	49143426	3	2	92	1	0	0	0	0	1	0	0	0	2512	1020	36	5	613	5	CA11	19	49143426	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	337448	49143426	9985557	62	6161											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccctcagtacctggcGtgttgtcacgtgaaatgctg	7	10	13	11	3	2	1	2	1	0	0	2	2	2	1	2	2	2	3	2	2	2	2	rs200888407		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:51919569G>A	ENST00000339313.5	-	4	865	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.T167M|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T250M|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T250M|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T192M|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T202M|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.T250M			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	250					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547													g|||	1	0.000199681	8e-04	0	5008	,	,		16377	0		0	False		,,,				2504	0					uc002pwo.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(748-750)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.							120	121	121					19																	51919569		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919569G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.749C>T	19.37:g.51919569G>A	ENSP00000345243:p.Thr250Met					SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	p.T250M	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	971	-		all_neural(266;0.0199)	250					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.749C>T	CCDS12832.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	8.262	0.811381	0.16537	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T;T;T	0.62364	0.86;2.14;1.66;0.73;1.95;1.84;0.6;1.89;0.73;0.03	4.4	-8.8	0.00817	.	1.373680	0.04807	N	0.434525	T	0.45316	0.1336	L	0.51422	1.61	0.09310	N	1	B;B;P;B;B;B;P	0.51147	0.162;0.403;0.942;0.108;0.33;0.287;0.607	B;B;B;B;B;B;B	0.40199	0.029;0.026;0.322;0.063;0.071;0.064;0.066	T	0.53222	-0.8469	10	0.46703	T	0.11	.	2.474	0.04571	0.2499:0.4272:0.1259:0.197	.	202;250;192;250;192;192;250	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	M	250;167;192;250;192;250;192;202;250;64	ENSP00000342389:T250M;ENSP00000396742:T167M;ENSP00000395475:T192M;ENSP00000348646:T250M;ENSP00000408387:T192M;ENSP00000431444:T250M;ENSP00000389132:T192M;ENSP00000414324:T202M;ENSP00000345243:T250M;ENSP00000435281:T64M	ENSP00000345243:T250M	T	-	2	0	SIGLEC10	56611381	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.445000	0.02401	-1.642000	0.01521	-0.680000	0.03767	ACG		0.547	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51919569	G	A	51919569	3	1	92	1	0	0	0	0	1	0	0	0	14306	1145	40	1	1376	1	SIGLEC10	19	51919569	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	2776143	51919569	7209414	63	6162											
LILRB4	11006	broad.mit.edu	37	chr19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggctcgggagtaccGtctggataaagaggaaagcc	11	6	15	9	2	1	1	0	0	1	1	2	5	1	5	3	5	2	2	3	5	4	2	rs377613190		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587																																						uc002qgp.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(175-177)cGt>cAt		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	186	173	178		176,176	-4.9	0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	59/448,59/449	55175317	1,13005	2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175317G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.176G>A	19.37:g.55175317G>A	ENSP00000375616:p.Arg59His					LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	p.R59H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	2	538	+			59			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.176G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055662	0.01965	0.0	1.16E-4	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	2.43	-4.87	0.03123	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06416	0.0165	N	0.21097	0.63	0.09310	N	1	B;B;B;B;B;B	0.21381	0.033;0.055;0.027;0.0;0.004;0.045	B;B;B;B;B;B	0.24269	0.052;0.02;0.007;0.002;0.003;0.016	T	0.27502	-1.0072	9	0.29301	T	0.29	.	0.3278	0.00314	0.3454:0.1334:0.1862:0.335	.	59;59;59;59;59;100	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	H	100;59;59;59;59;59;59	ENSP00000375616:R59H;ENSP00000270452:R59H;ENSP00000408995:R59H;ENSP00000375614:R59H;ENSP00000375613:R59H;ENSP00000401962:R59H	ENSP00000270452:R59H	R	+	2	0	LILRB4	59867129	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-8.816000	0.00016	-3.203000	0.00216	-0.513000	0.04457	CGT		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			A	55175317	G	A	55175317	3	1	92	1	0	0	0	0	1	0	0	0	8793	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	3255748	55175317	3953666	64	6163											
NLRP7	199713	broad.mit.edu	37	chr19	55450816	55450816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcctttggagactctGtcctggcggaggatgtctcc	6	11	13	11	1	2	1	0	0	2	1	4	4	3	3	3	4	2	1	3	4	1	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55450816G>A	ENST00000590030.1	-	3	1411	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	NLRP7_ENST00000340844.2_Silent_p.D457D|NLRP7_ENST00000448121.2_Silent_p.D457D|NLRP7_ENST00000446217.1_Silent_p.D485D|NLRP7_ENST00000328092.5_Silent_p.D457D|NLRP7_ENST00000592784.1_Silent_p.D457D|NLRP7_ENST00000588756.1_Silent_p.D457D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	457	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGACTCTGTCCTGGCGGA	0.617																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1369-1371)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							35	34	34					19																	55450816		2203	4297	6500	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450816G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1371C>T	19.37:g.55450816G>A						NLRP7_uc010esk.3_Silent_p.D457D|NLRP7_uc002qig.4_Silent_p.D457D|NLRP7_uc002qii.4_Silent_p.D457D|NLRP7_uc010esl.3_Silent_p.D485D	p.D457D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	1447	-			457			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1371C>T	CCDS33109.1																																																																																				0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450816	G	A	55450816	2	1	92	1	0	0	0	0	0	0	0	1	10482	1368	48	3		3	NLRP7	19	55450816	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	275499	55450816	3678167	65	6164											
PTPRH	5794	broad.mit.edu	37	chr19	55708508	55708508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgcacagaggctctgcGtggaactggctacgtcattc	8	9	13	11	3	2	1	1	0	1	1	3	3	2	3	0	4	3	3	0	4	2	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55708508G>A	ENST00000376350.3	-	9	1989	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	PTPRH_ENST00000263434.5_Missense_Mutation_p.T478M|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGGCTCTGCGTGGAACTGGC	0.547																																						uc002qjq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1966-1968)aCg>aTg		Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.							126	98	108					19																	55708508		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708508G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1967C>T	19.37:g.55708508G>A	ENSP00000365528:p.Thr656Met					PTPRH_uc010esv.3_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	p.T656M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	8	2040	-		Renal(1328;0.245)	656			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1967C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	8.429	0.848150	0.17034	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06371	3.31;4.28	5.24	-10.5	0.00291	Fibronectin, type III (2);	2.198960	0.02515	N	0.091963	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B;B	0.26935	0.164;0.136;0.147	B;B;B	0.22753	0.031;0.018;0.041	T	0.35919	-0.9769	10	0.45353	T	0.12	.	1.0753	0.01631	0.3001:0.2524:0.2783:0.1692	.	478;478;656	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	M	656;478	ENSP00000365528:T656M;ENSP00000263434:T478M	ENSP00000263434:T478M	T	-	2	0	PTPRH	60400320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.229000	0.00549	-2.245000	0.00705	-2.325000	0.00251	ACG		0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55708508	G	A	55708508	3	1	92	1	0	0	0	0	1	0	0	0	12803	1145	40	1	1428	1	PTPRH	19	55708508	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	257692	55708508	3420475	66	6165											
PCSK2	5126	broad.mit.edu	37	chr20	17445987	17445987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgggtctgacctggCgggacatgcagcatctgact	7	8	13	13	1	2	2	0	2	2	0	2	3	2	3	3	3	3	2	3	3	0	0	rs138900084		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:17445987C>T	ENST00000262545.2	+	11	1534	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.R372W|PCSK2_ENST00000377899.1_Missense_Mutation_p.R388W	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	407	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCTGACCTGGCGGGACATGCA	0.552																																						uc002wpm.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1219-1221)Cgg>Tgg		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						71	54	60					20																	17445987		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17445987C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1219C>T	20.37:g.17445987C>T	ENSP00000262545:p.Arg407Trp					PCSK2_uc002wpl.3_Missense_Mutation_p.R388W|PCSK2_uc010zrm.2_Missense_Mutation_p.R372W|PCSK2_uc002wpn.3_Missense_Mutation_p.R61W	p.R407W	NM_002594	NP_001188457	P16519	NEC2_HUMAN			10	1573	+			407			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1219C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957113	0.73902	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88277	-2.36;-2.36;-2.36	5.61	-1.12	0.09808	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96527	0.9390	10	0.87932	D	0	-11.855	16.6645	0.85249	0.6934:0.3066:0.0:0.0	.	372;388;407	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	W	388;407;372	ENSP00000367131:R388W;ENSP00000262545:R407W;ENSP00000437458:R372W	ENSP00000262545:R407W	R	+	1	2	PCSK2	17393987	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.976000	0.29462	-0.032000	0.13758	-0.226000	0.12346	CGG		0.552	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17445987	C	T	17445987	3	4	92	1	0	0	0	0	1	0	0	0	11601	759	27	1	1261	1	PCSK2	20	17445987	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		17445987	45579533	67	6166											
TPX2	22974	broad.mit.edu	37	chr20	30371716	30371716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctactaagattttggaaGatgttgtggtaaggttgagg	10	13	14	4	0	0	3	0	1	0	2	0	4	0	4	1	4	1	3	1	4	4	7			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:30371716G>T	ENST00000300403.6	+	12	1933	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	TPX2_ENST00000340513.4_Missense_Mutation_p.D505Y	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	469					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATTTTGGAAGATGTTGTGGT	0.413																																						uc002wwp.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1405-1407)Gat>Tat		Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.							127	110	116					20																	30371716		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30371716G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1405G>T	20.37:g.30371716G>T	ENSP00000300403:p.Asp469Tyr					TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	p.D469Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		11	2103	+			469					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1405G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421461	0.83559	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32515	1.45	5.49	5.49	0.81192	.	0.113853	0.64402	D	0.000015	T	0.56352	0.1979	M	0.68317	2.08	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.57963	-0.7720	10	0.72032	D	0.01	-19.1776	18.369	0.90400	0.0:0.0:1.0:0.0	.	505;469	Q96RR5;Q9ULW0	.;TPX2_HUMAN	Y	469;505	ENSP00000341145:D505Y	ENSP00000300403:D469Y	D	+	1	0	TPX2	29835377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.684000	0.74538	2.573000	0.86826	0.650000	0.86243	GAT		0.413	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			T	30371716	G	T	30371716	3	4	92	1	0	0	0	0	1	0	0	0	16429	942	33	5	1443	5	TPX2	20	30371716	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	12925729	30371716	32653804	68	6167											
BPI	671	broad.mit.edu	37	chr20	36932646	36932646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccaggggcccttgcaaCgcgccgagatgggcgtccct	6	6	15	14	4	0	1	0	0	0	1	1	2	1	1	4	4	2	1	4	4	1	1	rs532589861|rs397794979	byFrequency	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:36932646C>T	ENST00000262865.4	+	1	122	c.33C>T	c.(31-33)aaC>aaT	p.N11N	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	11					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCTTGCAACGCGCCGAGAT	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		16803	0		0	False		,,,				2504	0					uc002xib.2																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(31-33)aaC>aaT		Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.							74	74	74					20																	36932646		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36932646C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.33C>T	20.37:g.36932646C>T							p.N11N	NM_001725	NP_001716	P17213	BPI_HUMAN			0	95	+		Myeloproliferative disorder(115;0.00878)	11					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.33C>T	CCDS13303.1																																																																																				0.627	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		T	36932646	C	T	36932646	2	4	92	1	0	0	0	0	0	0	0	1	1490	535	19	1		1	BPI	20	36932646	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	6560930	36932646	26092874	69	6168											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047200	46047200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgccaccagctgctgcGccccggccccctgcctgacc	3	5	11	22	3	0	1	0	1	0	0	0	1	0	1	8	1	5	3	8	1	0	0	rs201090014		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46047200G>A	ENST00000397911.3	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	38	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCTGCTGCGCCCCGGCCCC	0.687																																						uc002zfp.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(112-114)Gcc>Acc		Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.		G	,THR/ALA	0,4352		0,0,2176	33	43	40		,112	-3.5	0.2	21		40	3,8535		0,3,4266	no	intron,missense	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,58	0,3,6442	AA,AG,GG		0.0351,0.0,0.0233	,benign	,38/293	46047200	3,12887	2176	4269	6445	SO:0001583	missense	386676					keratin filament		g.chr21:46047200G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.112G>A	21.37:g.46047200G>A	ENSP00000381009:p.Ala38Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A38T	NM_198690	NP_941963	P60411	KR109_HUMAN			0	161	+			38			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.112G>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	0.280	-0.986763	0.02180	0.0	3.51E-4	ENSG00000221837	ENST00000397911	T	0.04654	3.58	3.63	-3.45	0.04781	.	.	.	.	.	T	0.03263	0.0095	L	0.49455	1.56	0.09310	N	1	B	0.28178	0.202	B	0.17433	0.018	T	0.47071	-0.9145	9	0.14252	T	0.57	.	1.361	0.02191	0.439:0.1847:0.2407:0.1355	.	38	P60411	KR109_HUMAN	T	38	ENSP00000381009:A38T	ENSP00000381009:A38T	A	+	1	0	KRTAP10-9	44871628	0.000000	0.05858	0.181000	0.23098	0.005000	0.04900	-0.912000	0.04046	-0.422000	0.07405	-0.768000	0.03414	GCC		0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			A	46047200	G	A	46047200	3	1	92	1	0	0	0	0	1	0	0	0	8516	1087	38	1	114	1	KRTAP10-9	21	46047200	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		46047200	2082695	70	6169											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066382	46066382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaccccagcatggccGcgtccaccatgtctgtctgc	5	8	8	20	2	2	0	0	0	2	0	4	0	4	0	7	1	2	1	7	1	0	0	rs150246805	byFrequency	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46066382G>A	ENST00000334670.8	+	1	52	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	3						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCATGGCCGCGTCCACCAT	0.647													g|||	9	0.00179712	0.0068	0	5008	,	,		14288	0		0	False		,,,				2504	0					uc002zfr.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(7-9)Gcg>Acg		Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.		A	,THR/ALA	17,4389	22.3+/-47.3	0,17,2186	65	70	68		,7	1.4	0.2	21	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense	TSPEAR,KRTAP10-11	NM_144991.2,NM_198692.2	,58	0,18,6484	AA,AG,GG		0.0116,0.3858,0.1384	,benign	,3/299	46066382	18,12986	2203	4299	6502	SO:0001583	missense	386678					keratin filament		g.chr21:46066382G>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.7G>A	21.37:g.46066382G>A	ENSP00000334197:p.Ala3Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A3T	NM_198692	NP_941965	P60411	KR109_HUMAN			0	52	+			3					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.7G>A	CCDS42962.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	5.626	0.300251	0.10678	0.003858	1.16E-4	ENSG00000243489	ENST00000334670	T	0.14391	2.51	3.31	1.42	0.22433	.	.	.	.	.	T	0.08714	0.0216	M	0.74647	2.275	0.09310	N	1	B	0.34061	0.436	B	0.17098	0.017	T	0.20605	-1.0270	9	0.46703	T	0.11	.	3.9275	0.09270	0.2376:0.1978:0.5646:0.0	.	3	P60412	KR10B_HUMAN	T	3	ENSP00000334197:A3T	ENSP00000334197:A3T	A	+	1	0	KRTAP10-11	44890810	0.000000	0.05858	0.249000	0.24280	0.068000	0.16541	-1.989000	0.01480	0.123000	0.18342	-0.355000	0.07637	GCG		0.647	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		A	46066382	G	A	46066382	3	1	92	1	0	0	0	0	1	0	0	0	8507	1087	38	1	9	1	KRTAP10-11	21	46066382	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	19182	46066382	2063513	71	6170											
TMPRSS6	164656	broad.mit.edu	37	chr22	37491997	37491997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcggccctgtaggggaCggcagccgagctgttgactg	6	8	16	11	3	0	1	0	1	0	0	1	3	0	2	2	4	3	5	2	4	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr22:37491997C>T	ENST00000346753.3	-	5	681	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V180I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V180I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V180I|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.V189I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	189	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTAGGGGACGGCAGCCGAG	0.642																																						uc003aqt.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(538-540)Gtc>Atc		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							61	57	58					22																	37491997		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37491997C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.565G>A	22.37:g.37491997C>T	ENSP00000334962:p.Val189Ile					TMPRSS6_uc003aqs.1_Missense_Mutation_p.V189I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V180I	p.V180I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			4	600	-			189					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.538G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	c	6.564	0.472334	0.12461	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92348	-3.02;-3.01;-3.01;-3.02;-1.08	4.85	-0.297	0.12820	.	0.891799	0.09756	N	0.759866	T	0.77136	0.4086	N	0.08118	0	0.09310	N	1	P;B;B	0.34864	0.473;0.001;0.103	B;B;B	0.22386	0.039;0.001;0.006	T	0.68036	-0.5515	10	0.30078	T	0.28	.	5.4838	0.16739	0.0:0.2811:0.4561:0.2628	.	189;180;189	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	I	180;189;180;180;189	ENSP00000371211:V180I;ENSP00000334962:V189I;ENSP00000385453:V180I;ENSP00000384964:V180I;ENSP00000397691:V189I	ENSP00000334962:V189I	V	-	1	0	TMPRSS6	35821943	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.455000	0.21843	0.463000	0.27118	-0.642000	0.03964	GTC		0.642	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37491997	C	T	37491997	3	4	92	1	0	0	0	0	1	0	0	0	16248	536	19	1	1926	1	TMPRSS6	22	37491997	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		37491997	13812569	72	6171											
HSPG2	3339	broad.mit.edu	37	chr1	22154901	22154901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtaggtgaggtccagccGtttgccattcactgacacct	8	11	10	12	1	1	2	1	2	0	0	2	2	2	2	4	2	2	2	4	2	1	3	rs146179360	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:22154901G>A	ENST00000374695.3	-	89	12335	c.12256C>T	c.(12256-12258)Cgg>Tgg	p.R4086W	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4086	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGTCCAGCCGTTTGCCATTC	0.597													G|||	5	0.000998403	0	0.0014	5008	,	,		17954	0		0.003	False		,,,				2504	0.001					uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(12259-12261)Cgg>Tgg		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94	81	85		12256	4.4	1	1	dbSNP_134	85	10,8590	7.7+/-29.5	0,10,4290	yes	missense	HSPG2	NM_005529.5	101	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	probably-damaging	4086/4392	22154901	11,12995	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22154901G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12256C>T	1.37:g.22154901G>A	ENSP00000363827:p.Arg4086Trp					HSPG2_uc001bfi.3_Missense_Mutation_p.R103W|HSPG2_uc001bfj.3_Missense_Mutation_p.R4086W	p.R4087W	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	88	12299	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4086			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12259C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206242	0.58343	2.27E-4	0.001163	ENSG00000142798	ENST00000374695	T	0.75589	-0.95	4.41	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	0.000000	0.34362	N	0.004028	T	0.82245	0.4995	M	0.62723	1.935	0.34361	D	0.690986	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	D	0.87240	0.2266	10	0.72032	D	0.01	.	10.2948	0.43618	0.0:0.0:0.6897:0.3103	.	2026;4086	Q59EG0;P98160	.;PGBM_HUMAN	W	4086	ENSP00000363827:R4086W	ENSP00000363827:R4086W	R	-	1	2	HSPG2	22027488	1.000000	0.71417	0.993000	0.49108	0.771000	0.43674	2.717000	0.47227	2.162000	0.67917	0.462000	0.41574	CGG		0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22154901	G	A	22154901	3	1	93	1	0	0	0	0	1	0	0	0	7430	1144	40	1	955	1	HSPG2	1	22154901	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		22154901	227095720	1	6172											
GRHL3	57822	broad.mit.edu	37	chr1	24661135	24661135	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcctttctctcttctcagGgtcccaaggagaagcggata	8	12	9	12	1	3	1	1	0	3	1	7	3	5	2	2	3	1	0	2	3	3	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:24661135G>T	ENST00000350501.5	+	3	332	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	GRHL3_ENST00000530984.1_Intron|GRHL3_ENST00000356046.2_Splice_Site_p.G23C|GRHL3_ENST00000361548.4_Splice_Site_p.G69C|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000236255.4_Splice_Site_p.G74C	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	69	Transcription activation.				central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTCTTCTCAGGGTCCCAAGGA	0.552																																						uc021oiw.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.e3-1		Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.							188	182	184					1																	24661135		2203	4300	6503	SO:0001630	splice_region_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24661135G>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.205-1G>T	1.37:g.24661135G>T						GRHL3_uc001bix.3_Splice_Site_p.G69_splice|GRHL3_uc021oix.1_Splice_Site_p.G23_splice|GRHL3_uc001biy.3_Splice_Site_p.G74_splice|GRHL3_uc001biz.3_Splice_Site	p.G69_splice	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	3	435	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	69			Transcription activation.		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.205_splice	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945561	0.73672	.	.	ENSG00000158055	ENST00000361548;ENST00000350501;ENST00000356046;ENST00000524724;ENST00000236255	T;T;T;T;T	0.47869	1.25;1.25;0.83;0.83;1.25	5.1	5.1	0.69264	.	0.185702	0.36374	N	0.002623	T	0.56731	0.2005	L	0.54323	1.7	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.53146	0.719;0.719	T	0.53287	-0.8460	9	.	.	.	-32.2037	18.0304	0.89282	0.0:0.0:1.0:0.0	.	74;69	Q8TE85-2;G3XAF0	.;.	C	69;69;23;23;74	ENSP00000354943:G69C;ENSP00000288955:G69C;ENSP00000348333:G23C;ENSP00000431290:G23C;ENSP00000236255:G74C	.	G	+	1	0	GRHL3	24533722	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.319000	0.59197	2.813000	0.96785	0.561000	0.74099	GGT		0.552	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	Missense_Mutation	T	24661135	G	T	24661135	5	4	93	1	0	0	0	0	0	0	1	0	6765	1246	43	5	251	5	GRHL3	1	24661135	Splice_Site	SNP	G	TCGA-06-5417-01A-01D-1486-08	2506234	24661135	224589486	2	6173											
FAM73A	374986	broad.mit.edu	37	chr1	78338781	78338781	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtcctagaaattctctGtatgatttatgttgcttttt	7	21	8	5	0	1	2	0	1	1	1	3	2	2	2	1	1	1	3	1	1	4	9			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:78338781G>C	ENST00000370791.3	+	15	1688	c.1656G>C	c.(1654-1656)ctG>ctC	p.L552L	FAM73A_ENST00000443751.2_Silent_p.L515L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	552						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAATTCTCTGTATGATTTAT	0.358																																						uc010ork.2																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1657-1659)ctG>ctC		Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.							171	166	168					1																	78338781		2203	4300	6503	SO:0001819	synonymous_variant	374986					integral to membrane		g.chr1:78338781G>C		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1656G>C	1.37:g.78338781G>C						FAM73A_uc001dhx.3_Silent_p.L552L|FAM73A_uc010orl.2_Silent_p.L515L	p.L553L	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	14	1691	+			552					Q6MZG0	Silent	SNP	ENST00000370791.3	37	c.1659G>C	CCDS681.1																																																																																				0.358	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		C	78338781	G	C	78338781	2	2	93	1	0	0	0	0	0	0	0	1	5617	1364	48	5		5	FAM73A	1	78338781	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	53677646	78338781	170911840	3	6174											
TTLL7	79739	broad.mit.edu	37	chr1	84408356	84408356	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcaccatttcttatcaaAgaaatcctatgtttaaagaa	15	15	4	7	0	3	2	2	0	1	2	4	2	4	2	2	0	0	1	2	0	7	6			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:84408356A>T	ENST00000260505.8	-	7	890	c.513T>A	c.(511-513)tcT>tcA	p.S171S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	171	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCTTATCAAAGAAATCCTAT	0.294																																						uc001djc.3																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(511-513)tcT>tcA		Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.							25	26	25					1																	84408356		2201	4297	6498	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84408356A>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.513T>A	1.37:g.84408356A>T						TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	p.S171S	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	6	909	-			171			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.513T>A	CCDS690.2																																																																																				0.294	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		T	84408356	A	T	84408356	2	4	93	1	0	0	0	0	0	0	0	1	16729	59	3	5		5	TTLL7	1	84408356	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	6069575	84408356	164842265	4	6175											
KCNA10	3744	broad.mit.edu	37	chr1	111060530	111060530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagaagtcagtcttgctggGgcagaccacgaaccggagca	12	5	14	10	2	2	2	1	0	1	2	2	5	2	3	2	3	3	3	2	3	3	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:111060530G>A	ENST00000369771.2	-	1	1267	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	294					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTCTTGCTGGGGCAGACCACG	0.512																																						uc001dzt.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(880-882)Ccc>Tcc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.							135	118	124					1																	111060530		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060530G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.880C>T	1.37:g.111060530G>A	ENSP00000358786:p.Pro294Ser						p.P294S	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	0	1268	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	294						Missense_Mutation	SNP	ENST00000369771.2	37	c.880C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148874	0.78001	.	.	ENSG00000143105	ENST00000369771	D	0.97480	-4.4	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99605	1.0979	10	0.87932	D	0	.	18.6105	0.91283	0.0:0.0:1.0:0.0	.	294	Q16322	KCA10_HUMAN	S	294	ENSP00000358786:P294S	ENSP00000358786:P294S	P	-	1	0	KCNA10	110862053	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	CCC		0.512	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		A	111060530	G	A	111060530	3	1	93	1	0	0	0	0	1	0	0	0	8002	1232	43	3	659	3	KCNA10	1	111060530	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	26652174	111060530	138190091	5	6176											
FLG2	388698	broad.mit.edu	37	chr1	152326101	152326101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccataagtagtttcatgTctctcatgaactgtggattc	9	16	8	8	0	3	1	2	1	1	0	6	2	4	2	1	1	1	2	1	1	3	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:152326101T>C	ENST00000388718.5	-	3	4233	c.4161A>G	c.(4159-4161)agA>agG	p.R1387R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1387					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGTTTCATGTCTCTCATGAA	0.507																																						uc001ezw.4																			0		p.E1386D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4159-4161)agA>agG		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							238	215	223					1																	152326101		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152326101T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4161A>G	1.37:g.152326101T>C						AK056431_uc001ezv.3_Intron	p.R1387R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4234	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1387					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4161A>G	CCDS30861.1																																																																																				0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152326101	T	C	152326101	2	2	93	1	0	0	0	0	0	0	0	1	5923	1664	58	4		4	FLG2	1	152326101	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	41265571	152326101	96924520	6	6177											
RNPEP	6051	broad.mit.edu	37	chr1	201966632	201966632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggtgaattctggctcaAtgaaggtttcaccatgtacg	9	12	12	8	1	3	2	2	2	1	0	3	2	3	2	1	4	1	3	1	4	4	3	rs114130028		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:201966632A>T	ENST00000295640.4	+	5	1083	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	RNPEP_ENST00000367286.3_Missense_Mutation_p.N308I|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.5_ENST00000608886.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	347					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTCTGGCTCAATGAAGGTTTC	0.542																																					GBM(19;39 479 7473 13131 19462)	uc001gxd.3																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1039-1041)aAt>aTt		Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.							104	90	95					1																	201966632		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201966632A>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1040A>T	1.37:g.201966632A>T	ENSP00000295640:p.Asn347Ile					RNPEP_uc001gxe.3_Missense_Mutation_p.N48I	p.N347I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	4	1069	+			347					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1040A>T	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912863	0.72983	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	H	0.94925	3.6	0.54753	D	0.999982	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	T	0.50303	-0.8844	10	0.87932	D	0	-28.5664	13.8782	0.63667	1.0:0.0:0.0:0.0	.	355;347	Q7RU04;Q9H4A4	.;AMPB_HUMAN	I	347;308;216;93	ENSP00000295640:N347I;ENSP00000356255:N308I;ENSP00000389602:N216I;ENSP00000407614:N93I	ENSP00000295640:N347I	N	+	2	0	RNPEP	200233255	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.699000	0.68310	1.914000	0.55421	0.523000	0.50628	AAT		0.542	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		T	201966632	A	T	201966632	3	4	93	1	0	0	0	0	1	0	0	0	13509	101	4	5	1058	5	RNPEP	1	201966632	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	49640531	201966632	47283989	7	6178											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414537	213414537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacgagctgaagttctTccccaacgatgacccagaag	12	7	9	13	2	2	3	1	2	1	1	3	5	3	3	3	0	3	3	3	0	3	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:213414537T>C	ENST00000366960.3	+	11	1868	c.1718T>C	c.(1717-1719)tTc>tCc	p.F573S	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.F361S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.F561S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.F276S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	573					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGAAGTTCTTCCCCAACGAT	0.458																																						uc010ptr.2																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1717-1719)tTc>tCc		Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.							53	52	52					1																	213414537		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414537T>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1718T>C	1.37:g.213414537T>C	ENSP00000355927:p.Phe573Ser					RPS6KC1_uc001hkd.3_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.2_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.2_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.3_Missense_Mutation_p.F392S	p.F573S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	10	1877	+			573					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1718T>C	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197260	0.38806	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.54675	0.97;1.07;1.09;0.56	5.03	3.87	0.44632	.	0.179480	0.49305	D	0.000143	T	0.65365	0.2684	M	0.66939	2.045	0.36266	D	0.854857	D;D;D	0.69078	0.991;0.997;0.997	P;D;D	0.64042	0.886;0.921;0.921	T	0.70389	-0.4885	10	0.40728	T	0.16	-27.833	11.0345	0.47793	0.1393:0.0:0.0:0.8607	.	361;573;561	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	361;573;561;276	ENSP00000442306:F361S;ENSP00000355927:F573S;ENSP00000355926:F561S;ENSP00000439282:F276S	ENSP00000355926:F561S	F	+	2	0	RPS6KC1	211481160	0.999000	0.42202	0.017000	0.16124	0.682000	0.39822	2.409000	0.44583	0.729000	0.32403	0.377000	0.23210	TTC		0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		C	213414537	T	C	213414537	3	2	93	1	0	0	0	0	1	0	0	0	13658	1783	62	4	1760	4	RPS6KC1	1	213414537	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	11447905	213414537	35836084	8	6179											
EPAS1	2034	broad.mit.edu	37	chr2	46603736	46603736	+	Frame_Shift_Del	DEL	C	C	-																															agactgaatccctgttcaagCcccacctgatggccatgaac																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:46603736delC	ENST00000263734.3	+	9	1603	c.1093delC	c.(1093-1095)cccfs	p.P365fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	365					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTTCAAGCCCCACCTGAT	0.493																																						uc002ruv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1093-1095)cccfs		Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.							156	151	153					2																	46603736		2203	4300	6503	SO:0001589	frameshift_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46603736delC	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1093delC	2.37:g.46603736delC	ENSP00000263734:p.Pro365fs						p.P365fs	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		8	1603	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	365					Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	c.1093delC	CCDS1825.1																																																																																				0.493	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		-	46603736	C	-	46603736	7	5	93	1	0	1	0	1	0	0	0	0	5150	739	26	0	1127	0	EPAS1	2	46603736	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08		46603736	196595637	9	6180											
SPTBN1	6711	broad.mit.edu	37	chr2	54856159	54856159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgccagctggcggctgagCgcagggcccgtctggaagag	6	7	17	11	3	1	2	0	1	1	1	1	3	1	3	2	4	3	3	2	4	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:54856159C>T	ENST00000356805.4	+	14	2169	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R617C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	630					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCGGCTGAGCGCAGGGCCCG	0.582																																						uc002rxu.3																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1888-1890)Cgc>Tgc		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							61	71	67					2																	54856159		2202	4300	6502	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856159C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1888C>T	2.37:g.54856159C>T	ENSP00000349259:p.Arg630Cys					SPTBN1_uc002rxv.1_Missense_Mutation_p.R630C|SPTBN1_uc002rxx.3_Missense_Mutation_p.R617C	p.R630C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2137	+			630					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1888C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511663	0.85389	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.63096	-0.02;-0.02;-0.02	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87575	0.2480	10	0.87932	D	0	.	14.4694	0.67506	0.1469:0.853:0.0:0.0	.	617;630	Q01082-3;Q01082	.;SPTB2_HUMAN	C	630;630;617	ENSP00000349259:R630C;ENSP00000374630:R630C;ENSP00000334156:R617C	ENSP00000334156:R617C	R	+	1	0	SPTBN1	54709663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.652000	0.90054	0.655000	0.94253	CGC		0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54856159	C	T	54856159	3	4	93	1	0	0	0	0	1	0	0	0	15118	768	27	1	2051	1	SPTBN1	2	54856159	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	8252423	54856159	188343214	10	6181											
GALNT13	114805	broad.mit.edu	37	chr2	155099286	155099286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattattaggatggaagaacGctctgggttaatacgtgccc	12	11	11	7	2	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	7	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:155099286G>A	ENST00000392825.3	+	6	1121	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R185H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	185	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGAAGAACGCTCTGGGTTA	0.388																																						uc002tyt.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(553-555)cGc>cAc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.							56	57	57					2																	155099286		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099286G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.554G>A	2.37:g.155099286G>A	ENSP00000376570:p.Arg185His					GALNT13_uc002tyr.4_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	p.R185H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			3	658	+			185			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.554G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392340	0.95988	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.60548	0.18;0.18	5.63	5.63	0.86233	Glycosyl transferase, family 2 (1);	0.061993	0.64402	D	0.000001	T	0.80994	0.4731	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.997	D	0.84158	0.0427	10	0.87932	D	0	.	18.665	0.91486	0.0:0.0:1.0:0.0	.	185;185;185	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	H	185	ENSP00000376570:R185H;ENSP00000387239:R185H	ENSP00000376570:R185H	R	+	2	0	GALNT13	154807532	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.665000	0.90641	0.591000	0.81541	CGC		0.388	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		A	155099286	G	A	155099286	3	1	93	1	0	0	0	0	1	0	0	0	6211	1087	38	1	568	1	GALNT13	2	155099286	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	100243127	155099286	88100087	11	6182											
MDH1B	130752	broad.mit.edu	37	chr2	207615789	207615789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaccccaaatgatcacGtctttaatgtctgtgaagaa	14	13	6	8	1	3	3	1	2	2	1	3	3	3	3	2	0	1	0	2	0	6	4	rs146327472	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:207615789G>A	ENST00000374412.3	-	6	1196	c.921C>T	c.(919-921)gaC>gaT	p.D307D	MDH1B_ENST00000449792.1_Silent_p.D209D|MDH1B_ENST00000454776.2_Silent_p.D307D|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	307					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGATCACGTCTTTAATGT	0.318																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(919-921)gaC>gaT		Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	107	108	108		921	3.6	1	2	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	MDH1B	NM_001039845.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		307/519	207615789	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615789G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.921C>T	2.37:g.207615789G>A						MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.D307D|MDH1B_uc021vvm.1_Silent_p.D209D	p.D307D	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	976	-			307					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.921C>T	CCDS33365.1																																																																																				0.318	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		A	207615789	G	A	207615789	2	1	93	1	0	0	0	0	0	0	0	1	9409	1136	40	1		1	MDH1B	2	207615789	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	52516503	207615789	35583584	12	6183											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	93	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	1497323	209113112	34086261	13	6184											
ROBO1	6091	broad.mit.edu	37	chr3	78656067	78656070	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															cttccttttctgtctgatgaTctgtctgttcttgcatccat																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:78656067_78656070delTCTG	ENST00000464233.1	-	29	4670_4673	c.4557_4560delCAGA	c.(4555-4560)gacagafs	p.DR1519fs	ROBO1_ENST00000495273.1_Frame_Shift_Del_p.DR1474fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.DR1419fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.DR1480fs|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1519					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTCTGATGATCTGTCTGTTCTTG	0.485																																						uc003dqe.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(4555-4560)gacagafs		Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78656067_78656070delTCTG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4557_4560delCAGA	3.37:g.78656071_78656074delTCTG	ENSP00000420321:p.Asp1519fs					ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs	p.D1519fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	28	4765_4768	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1519					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.4557_4560delCAGA	CCDS54611.1																																																																																				0.485	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		-	78656070	TCTG	-	78656067	7	5	93	1	0	1	0	1	0	0	0	0	13513	1432	50	0	407	0	ROBO1	3	78656067	Frame_Shift_Del	DEL	TCTG	TCGA-06-5417-01A-01D-1486-08		78656067	119366363	14	6185											
POLQ	10721	broad.mit.edu	37	chr3	121230744	121230744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcttacctccagaataGctcgtatcatgctgccagtt	8	14	6	13	1	3	1	1	0	2	1	6	1	4	1	3	0	4	4	3	0	4	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:121230744G>C	ENST00000264233.5	-	10	1729	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	534	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCAGAATAGCTCGTATCAT	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1600-1602)gCt>gGt	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							109	106	107					3																	121230744		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121230744G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1601C>G	3.37:g.121230744G>C	ENSP00000264233:p.Ala534Gly						p.A534G	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	9	1730	-			534			Helicase C-terminal.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1601C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081687	0.94050	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43688	0.94	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.121852	0.56097	D	0.000038	T	0.66848	0.2831	M	0.93016	3.37	0.80722	D	1	P	0.44776	0.843	P	0.50231	0.635	T	0.76154	-0.3063	10	0.72032	D	0.01	.	18.9823	0.92760	0.0:0.0:1.0:0.0	.	534	O75417	DPOLQ_HUMAN	G	157;534;670	ENSP00000264233:A534G	ENSP00000264233:A534G	A	-	2	0	POLQ	122713434	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.040000	0.93783	2.458000	0.83093	0.455000	0.32223	GCT		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121230744	G	C	121230744	3	2	93	1	0	0	0	0	1	0	0	0	12208	971	34	5	6255	5	POLQ	3	121230744	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	42574677	121230744	76791686	15	6186											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		899	Substitution - Missense(899)	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	93	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	57705347	178936091	19086339	16	6187											
EIF4G1	1981	broad.mit.edu	37	chr3	184052651	184052651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaaatctgtcacagccttCttcaagtggctccgtgaagc	9	12	8	12	1	4	1	2	1	2	0	5	1	5	1	2	1	2	1	2	1	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:184052651C>G	ENST00000346169.2	+	33	5026	c.4755C>G	c.(4753-4755)ttC>ttG	p.F1585L	EIF4G1_ENST00000342981.4_Missense_Mutation_p.F1586L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.F1592L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.F1592L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.F1498L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.F1422L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.F1421L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.F1546L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.F1545L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.F1585L|FAM131A_ENST00000450976.1_5'Flank|FAM131A_ENST00000418281.1_5'Flank|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000427845.1_Missense_Mutation_p.F1499L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.F1389L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.F1592L|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000434061.2_Missense_Mutation_p.F1390L|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1585	EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGCCTTCTTCAAGTGGC	0.607																																						uc003fnp.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4753-4755)ttC>ttG		Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.							78	72	74					3																	184052651		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184052651C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4755C>G	3.37:g.184052651C>G	ENSP00000316879:p.Phe1585Leu					EIF4G1_uc010hxx.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnt.3_Missense_Mutation_p.F1296L|EIF4G1_uc010hxy.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnq.3_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.3_Missense_Mutation_p.F1421L|EIF4G1_uc003fns.3_Missense_Mutation_p.F1545L|EIF4G1_uc003fnv.4_Missense_Mutation_p.F1586L|EIF4G1_uc003fnw.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnx.3_Missense_Mutation_p.F1390L|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank	p.F1585L	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		32	5026	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1585			EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4755C>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359408	0.61403	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.38	3.5	0.40072	eIF4-gamma/eIF5/eIF2-epsilon (3);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.83603	2.65	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.994	D	0.90729	0.4641	10	0.72032	D	0.01	-3.0311	8.5328	0.33344	0.0:0.812:0.0:0.188	.	1592;1586;1585	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	L	1585;1545;1498;1592;1421;1592;1499;1586;1585;1592;1546;1422;1390;1389	ENSP00000316879:F1585L;ENSP00000391935:F1545L;ENSP00000376320:F1498L;ENSP00000371767:F1592L;ENSP00000317600:F1421L;ENSP00000338020:F1592L;ENSP00000407682:F1499L;ENSP00000343450:F1586L;ENSP00000323737:F1585L;ENSP00000416255:F1592L;ENSP00000395974:F1546L;ENSP00000399858:F1422L;ENSP00000411826:F1390L;ENSP00000404754:F1389L	ENSP00000323737:F1585L	F	+	3	2	EIF4G1	185535345	1.000000	0.71417	0.997000	0.53966	0.397000	0.30659	2.032000	0.41127	1.061000	0.40601	0.555000	0.69702	TTC		0.607	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		G	184052651	C	G	184052651	3	3	93	1	0	0	0	0	1	0	0	0	5036	912	32	5	4877	5	EIF4G1	3	184052651	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	5116560	184052651	13969779	17	6188											
SEL1L3	23231	broad.mit.edu	37	chr4	25819779	25819779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcagcagatccatctcCagcaatgcctggaacaagct	11	7	9	14	1	2	1	1	0	1	1	4	2	3	2	4	2	5	3	4	2	3	0			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:25819779C>T	ENST00000399878.3	-	9	1667	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L	SEL1L3_ENST00000264868.5_Silent_p.L480L|SEL1L3_ENST00000502949.1_Silent_p.L362L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	515						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATCCATCTCCAGCAATGCCT	0.537																																						uc003gru.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1543-1545)ctG>ctA		Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.							77	76	76					4																	25819779		1950	4155	6105	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25819779C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1545G>A	4.37:g.25819779C>T							p.L515L	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			8	1697	-			515					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.1545G>A	CCDS47037.1																																																																																				0.537	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25819779	C	T	25819779	2	4	93	1	0	0	0	0	0	0	0	1	14012	581	21	3		3	SEL1L3	4	25819779	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08		25819779	165334497	18	6189											
WDR19	57728	broad.mit.edu	37	chr4	39218764	39218764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgctacagctgtgaaaaaAttgaaagatatggagtatct	16	12	9	4	0	1	3	0	2	1	1	1	4	1	4	0	1	3	3	0	1	7	5			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:39218764A>T	ENST00000399820.3	+	13	1414	c.1260A>T	c.(1258-1260)aaA>aaT	p.K420N	WDR19_ENST00000288634.7_Missense_Mutation_p.K260N|WDR19_ENST00000506503.1_Missense_Mutation_p.K420N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	420					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CTGTGAAAAAATTGAAAGATA	0.343																																						uc003gtv.3																			0				large_intestine(1)	1						c.(1258-1260)aaA>aaT		Homo sapiens WD repeat domain 19 (WDR19), mRNA.							68	63	65					4																	39218764		1814	4078	5892	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39218764A>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1260A>T	4.37:g.39218764A>T	ENSP00000382717:p.Lys420Asn					WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.2_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	p.K420N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			12	1414	+			420					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1260A>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471398	0.63737	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	D;D;T	0.96041	-3.89;-3.89;1.15	5.42	0.468	0.16732	WD40 repeat-like-containing domain (1);	0.320352	0.36972	N	0.002316	D	0.94056	0.8095	M	0.78916	2.43	0.34019	D	0.652458	P;P	0.39940	0.573;0.696	B;B	0.42771	0.32;0.397	D	0.91345	0.5100	10	0.17832	T	0.49	-17.3453	11.4984	0.50422	0.3553:0.0:0.6447:0.0	.	420;420	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	N	420;260;420;419	ENSP00000382717:K420N;ENSP00000288634:K260N;ENSP00000423491:K420N	ENSP00000288634:K260N	K	+	3	2	WDR19	38895159	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	0.914000	0.28624	-0.138000	0.11434	0.482000	0.46254	AAA		0.343	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			T	39218764	A	T	39218764	3	4	93	1	0	0	0	0	1	0	0	0	17276	98	4	5	1310	5	WDR19	4	39218764	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	13398985	39218764	151935512	19	6190											
ZAR1	326340	broad.mit.edu	37	chr4	48494815	48494815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatggctattaccactgCaaggactgcaacatccgctg	13	9	8	11	1	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:48494815C>G	ENST00000327939.4	+	2	1036	c.996C>G	c.(994-996)tgC>tgG	p.C332W		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	332					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						ATTACCACTGCAAGGACTGCA	0.418																																						uc003gyd.3																			0				endometrium(1)|large_intestine(4)	5						c.(994-996)tgC>tgG		Homo sapiens zygote arrest 1 (ZAR1), mRNA.							213	211	212					4																	48494815		2203	4300	6503	SO:0001583	missense	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48494815C>G	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 6"	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.996C>G	4.37:g.48494815C>G	ENSP00000329803:p.Cys332Trp						p.C332W	NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN			1	996	+			332						Missense_Mutation	SNP	ENST00000327939.4	37	c.996C>G	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697553	0.68386	.	.	ENSG00000182223	ENST00000327939	T	0.57436	0.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77115	-0.2707	10	0.87932	D	0	-19.2179	13.1129	0.59283	0.0:0.9267:0.0:0.0733	.	332	Q86SH2	ZAR1_HUMAN	W	332	ENSP00000329803:C332W	ENSP00000329803:C332W	C	+	3	2	ZAR1	48189572	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	1.919000	0.40015	2.701000	0.92244	0.462000	0.41574	TGC		0.418	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			G	48494815	C	G	48494815	3	3	93	1	0	0	0	0	1	0	0	0	17512	718	25	5	1002	5	ZAR1	4	48494815	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	9276051	48494815	142659461	20	6191											
POLR2B	5431	broad.mit.edu	37	chr4	57890238	57890238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccatgccatcccctctcGtatgactattggtcacttaa	8	13	5	15	1	2	1	1	1	1	0	5	1	4	1	5	1	1	1	5	1	3	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:57890238G>A	ENST00000381227.1	+	22	3337	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	POLR2B_ENST00000441246.2_Missense_Mutation_p.R968H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R975H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R900H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	975					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCCCCTCTCGTATGACTATT	0.378																																						uc003hcl.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2923-2925)cGt>cAt		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.							134	123	127					4																	57890238		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57890238G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2924G>A	4.37:g.57890238G>A	ENSP00000370625:p.Arg975His					POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	p.R975H	NM_000938	NP_000929	P30876	RPB2_HUMAN			20	2967	+	Glioma(25;0.08)|all_neural(26;0.181)		975					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2924G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687573	0.96784	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	6.02	6.02	0.97574	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97195	0.9860	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	900;975	C9J4M6;P30876	.;RPB2_HUMAN	H	975;900;968;975	ENSP00000370625:R975H;ENSP00000391096:R900H;ENSP00000391452:R968H;ENSP00000312735:R975H	ENSP00000312735:R975H	R	+	2	0	POLR2B	57584995	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.855000	0.99526	2.857000	0.98124	0.650000	0.86243	CGT		0.378	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57890238	G	A	57890238	3	1	93	1	0	0	0	0	1	0	0	0	12215	1145	40	1	3006	1	POLR2B	4	57890238	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	9395423	57890238	133264038	21	6192											
WWC2	80014	broad.mit.edu	37	chr4	184210574	184210574	+	Frame_Shift_Del	DEL	C	C	-																															ccagtcagtccttagaagaaCaacacaggaatgcccagtgc																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:184210574delC	ENST00000403733.3	+	21	3369	c.3170delC	c.(3169-3171)acafs	p.T1058fs	WWC2_ENST00000508747.1_Frame_Shift_Del_p.T186fs|WWC2_ENST00000448232.2_Frame_Shift_Del_p.T1082fs|WWC2_ENST00000504005.1_Frame_Shift_Del_p.T740fs|WWC2_ENST00000513834.1_Frame_Shift_Del_p.T1009fs	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1058					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTTAGAAGAACAACACAGGAA	0.537																																						uc010irx.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(3169-3171)acafs		Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.							55	44	48					4																	184210574		2203	4300	6503	SO:0001589	frameshift_variant	80014							g.chr4:184210574delC	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3170delC	4.37:g.184210574delC	ENSP00000384222:p.Thr1058fs					WWC2_uc003ivk.4_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.4_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.3_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.4_Frame_Shift_Del_p.T185fs	p.T1057fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	20	3352	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1057					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Del	DEL	ENST00000403733.3	37	c.3170delC	CCDS34109.2																																																																																				0.537	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		-	184210574	C	-	184210574	7	5	93	1	0	1	0	1	0	0	0	0	17409	478	17	0	3252	0	WWC2	4	184210574	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08	126320336	184210574	6943702	22	6193											
MARCH6	10299	broad.mit.edu	37	chr5	10387160	10387160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcactactgacgctgcCattagatatgctgtcaacgt	10	11	9	11	2	2	2	2	1	0	1	2	3	2	2	1	0	5	3	1	0	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:10387160C>G	ENST00000274140.5	+	5	521	c.389C>G	c.(388-390)cCa>cGa	p.P130R	MARCH6_ENST00000449913.2_Missense_Mutation_p.P82R|MARCH6_ENST00000503788.1_Missense_Mutation_p.P25R	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	130					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGACGCTGCCATTAGATATG	0.423																																						uc003jet.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(388-390)cCa>cGa		Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.							175	147	156					5																	10387160		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10387160C>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.389C>G	5.37:g.10387160C>G	ENSP00000274140:p.Pro130Arg					MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	p.P130R	NM_005885	NP_005876	O60337	MARH6_HUMAN			4	572	+			130					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.389C>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815017	0.90790	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.54479	1.84;0.57;1.8	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.987	D;D;P	0.85130	0.997;0.988;0.759	T	0.72717	-0.4209	10	0.28530	T	0.3	-15.1112	19.5547	0.95338	0.0:1.0:0.0:0.0	.	25;82;130	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	R	82;25;130	ENSP00000414643:P82R;ENSP00000425930:P25R;ENSP00000274140:P130R	ENSP00000274140:P130R	P	+	2	0	MARCH6	10440160	1.000000	0.71417	0.986000	0.45419	0.934000	0.57294	7.443000	0.80521	2.606000	0.88127	0.650000	0.86243	CCA		0.423	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		G	10387160	C	G	10387160	3	3	93	1	0	0	0	0	1	0	0	0	9305	594	21	5	407	5	MARCH6	5	10387160	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		10387160	170528100	23	6194											
ACOT12	134526	broad.mit.edu	37	chr5	80643615	80643615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatagtagccactgTctccatccacgccataatct	12	10	6	13	1	2	1	0	0	2	1	4	1	3	1	4	0	2	2	4	0	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:80643615T>C	ENST00000307624.3	-	6	659	c.631A>G	c.(631-633)Aca>Gca	p.T211A		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	211	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTAGCCACTGTCTCCATCCAC	0.498																																						uc003khl.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(631-633)Aca>Gca		Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.							233	229	231					5																	80643615		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643615T>C	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.631A>G	5.37:g.80643615T>C	ENSP00000303246:p.Thr211Ala					RNU5E-1_uc011cto.1_Intron	p.T211A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	5	686	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	211			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.631A>G	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	T	8.682	0.905433	0.17760	.	.	ENSG00000172497	ENST00000307624	T	0.23348	1.91	5.77	2.11	0.27256	Thioesterase superfamily (1);	0.234553	0.42821	N	0.000653	T	0.16938	0.0407	L	0.33485	1.01	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.08576	-1.0715	10	0.25106	T	0.35	-21.4074	8.8198	0.35018	0.0:0.2195:0.0:0.7805	.	211	Q8WYK0	ACO12_HUMAN	A	211	ENSP00000303246:T211A	ENSP00000303246:T211A	T	-	1	0	ACOT12	80679371	1.000000	0.71417	0.795000	0.32087	0.361000	0.29550	2.604000	0.46274	0.135000	0.18707	-0.250000	0.11733	ACA		0.498	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		C	80643615	T	C	80643615	3	2	93	1	0	0	0	0	1	0	0	0	150	1667	58	4	1076	4	ACOT12	5	80643615	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	70256455	80643615	100271645	24	6195											
STARD4	134429	broad.mit.edu	37	chr5	110842033	110842033	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaagttacttacagataTccattaaattcttctgaggg	15	14	6	6	0	2	2	0	1	2	1	3	2	3	2	1	1	2	1	1	1	8	7	rs377260389		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:110842033T>G	ENST00000296632.3	-	3	284	c.150A>C	c.(148-150)ggA>ggC	p.G50G	STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000512160.1_Silent_p.G50G|STARD4_ENST00000509887.1_Silent_p.G50G|STARD4_ENST00000502322.1_Silent_p.G50G	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	50	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTTACAGATATCCATTAAATT	0.303																																						uc003kph.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12						c.(148-150)ggA>ggC		Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.							31	34	33					5																	110842033		2191	4280	6471	SO:0001819	synonymous_variant	134429				lipid transport		lipid binding	g.chr5:110842033T>G	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.150A>C	5.37:g.110842033T>G						STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_Non-coding_Transcript|STARD4_uc003kpj.2_Silent_p.G50G	p.G50G	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	2	234	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	50			START.		Q86TN9	Silent	SNP	ENST00000296632.3	37	c.150A>C	CCDS4104.1																																																																																				0.303	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		G	110842033	T	G	110842033	2	3	93	1	0	0	0	0	0	0	0	1	15258	1422	50	5		5	STARD4	5	110842033	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	30198418	110842033	70073227	25	6196											
SOX4	6659	broad.mit.edu	37	chr6	21595085	21595085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacagcgacaagatccCtttcattcgagaggcggagc	13	6	11	11	3	1	3	1	0	0	3	3	6	2	4	1	2	2	0	1	2	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:21595085C>T	ENST00000244745.1	+	1	1114	c.320C>T	c.(319-321)cCt>cTt	p.P107L	SOX4_ENST00000543472.1_Missense_Mutation_p.P107L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	107					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACAAGATCCCTTTCATTCGA	0.602																																						uc003ndi.3																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(319-321)cCt>cTt		Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.							35	36	36					6																	21595085		2203	4300	6503	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595085C>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.320C>T	6.37:g.21595085C>T	ENSP00000244745:p.Pro107Leu						p.P107L	NM_003107	NP_003098	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		0	1114	+	Ovarian(93;0.163)		107						Missense_Mutation	SNP	ENST00000244745.1	37	c.320C>T	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021690	0.54576	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98381	-4.9;-4.9	5.12	5.12	0.69794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.99342	0.9769	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	17.3307	0.87262	0.0:1.0:0.0:0.0	.	107	Q06945	SOX4_HUMAN	L	107	ENSP00000244745:P107L;ENSP00000438412:P107L	ENSP00000244745:P107L	P	+	2	0	SOX4	21703064	1.000000	0.71417	0.999000	0.59377	0.001000	0.01503	5.631000	0.67812	2.365000	0.80145	0.555000	0.69702	CCT		0.602	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		T	21595085	C	T	21595085	3	4	93	1	0	0	0	0	1	0	0	0	14953	681	24	3	322	3	SOX4	6	21595085	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		21595085	149519982	26	6197											
VARS2	57176	broad.mit.edu	37	chr6	30893483	30893483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgacacggctcaagtctAcatggagctgcaggtgacca	11	7	12	11	1	2	2	1	2	1	0	2	3	2	3	1	3	3	3	1	3	2	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:30893483A>G	ENST00000321897.5	+	27	3580	c.2948A>G	c.(2947-2949)tAc>tGc	p.Y983C	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.Y843C|VARS2_ENST00000416670.2_Missense_Mutation_p.Y983C|VARS2_ENST00000541562.1_Missense_Mutation_p.Y1013C			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	983					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCAAGTCTACATGGAGCTG	0.647																																						uc011dmz.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(3037-3039)tAc>tGc		Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.							14	17	16					6																	30893483		1503	2701	4204	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30893483A>G	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2948A>G	6.37:g.30893483A>G	ENSP00000316092:p.Tyr983Cys					VARS2_uc003nsc.2_Missense_Mutation_p.Y983C|VARS2_uc011dmx.2_Missense_Mutation_p.Y983C|VARS2_uc011dmy.2_Missense_Mutation_p.Y843C|VARS2_uc011dna.2_Missense_Mutation_p.Y981C|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.Y421C|VARS2_uc010jsg.2_Missense_Mutation_p.Y355C|VARS2_uc010jsh.2_Missense_Mutation_p.Y127C	p.Y1013C	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN			27	3119	+			983					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.3038A>G	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838219	0.51057	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.74	3.07	0.35406	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.460281	0.23014	N	0.052928	T	0.32556	0.0833	M	0.68317	2.08	0.30892	N	0.730245	D;P;D;D	0.67145	0.996;0.953;0.973;0.972	P;B;P;P	0.56216	0.794;0.315;0.724;0.75	T	0.13045	-1.0524	10	0.54805	T	0.06	-13.3864	8.1342	0.31046	0.6523:0.0:0.0:0.3477	.	421;981;1013;983	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	C	983;983;843;1013	ENSP00000316092:Y983C;ENSP00000394802:Y983C;ENSP00000438200:Y843C;ENSP00000441000:Y1013C	ENSP00000316092:Y983C	Y	+	2	0	VARS2	31001462	0.880000	0.30214	0.993000	0.49108	0.982000	0.71751	0.889000	0.28282	0.916000	0.36871	0.533000	0.62120	TAC		0.647	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		G	30893483	A	G	30893483	3	3	93	1	0	0	0	0	1	0	0	0	17121	391	14	4	3148	4	VARS2	6	30893483	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	9298398	30893483	140221584	27	6198											
PHF1	5252	broad.mit.edu	37	chr6	33382595	33382595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccctactggagatggAgcactcaccaggtcactggt	9	7	12	13	0	2	1	2	0	0	1	2	4	2	2	3	4	3	1	3	4	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:33382595A>G	ENST00000374516.3	+	11	1309	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	PHF1_ENST00000374512.3_Silent_p.G346G	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	346					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGAGATGGAGCACTCACCA	0.552											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oeh.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1036-1038)ggA>ggG		Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.							56	55	55					6																	33382595		2201	4292	6493	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382595A>G	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1038A>G	6.37:g.33382595A>G			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.G346G|PHF1_uc010jux.3_Silent_p.G146G	p.G346G	NM_024165	NP_077084	O43189	PHF1_HUMAN			10	1274	+		Ovarian(999;0.0443)	346					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.1038A>G	CCDS4777.1																																																																																				0.552	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			G	33382595	A	G	33382595	2	3	93	1	0	0	0	0	0	0	0	1	11820	291	11	4		4	PHF1	6	33382595	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	2489112	33382595	137732472	28	6199											
LMBRD1	55788	broad.mit.edu	37	chr6	70411840	70411840	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgaaaaatattccccaGacgatctaaaagcaaaaata	22	7	5	7	1	1	3	0	1	1	2	2	4	2	3	2	0	1	1	2	0	9	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:70411840G>C	ENST00000370577.3	-	10	1150	c.921C>G	c.(919-921)gtC>gtG	p.V307V	LMBRD1_ENST00000370570.1_Silent_p.V234V	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	307					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATATTCCCCAGACGATCTAAA	0.269																																						uc003pfa.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(919-921)gtC>gtG		Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.							50	51	50					6																	70411840		2200	4286	6486	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70411840G>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.921C>G	6.37:g.70411840G>C						LMBRD1_uc003pez.3_Silent_p.V234V|LMBRD1_uc010kal.3_Silent_p.V234V|LMBRD1_uc003pfb.3_Non-coding_Transcript	p.V307V	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			9	1197	-			307					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.921C>G	CCDS4969.1																																																																																				0.269	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		C	70411840	G	C	70411840	2	2	93	1	0	0	0	0	0	0	0	1	8842	929	33	5		5	LMBRD1	6	70411840	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	37029245	70411840	100703227	29	6200											
SYNE1	23345	broad.mit.edu	37	chr6	152737569	152737569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaatcgctctttgtcAgtcctttcttcaatgtcctc	5	19	4	13	1	6	0	3	0	3	0	10	0	8	0	2	0	0	1	2	0	2	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:152737569A>G	ENST00000367255.5	-	41	6604	c.6003T>C	c.(6001-6003)acT>acC	p.T2001T	SYNE1_ENST00000423061.1_Silent_p.T2008T|SYNE1_ENST00000341594.5_Silent_p.T2038T|SYNE1_ENST00000265368.4_Silent_p.T2001T|SYNE1_ENST00000448038.1_Silent_p.T2008T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2001					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTTTGTCAGTCCTTTCTT	0.448										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6001-6003)acT>acC		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							237	250	246					6																	152737569		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737569A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6003T>C	6.37:g.152737569A>G		HNSCC(10;0.0054)				SYNE1_uc003qot.4_Silent_p.T2008T|SYNE1_uc003qou.4_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	p.T2001T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	38	6226	-		Ovarian(120;0.0955)	2001					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.6003T>C	CCDS5236.2																																																																																				0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152737569	A	G	152737569	2	3	93	1	0	0	0	0	0	0	0	1	15442	175	7	4		4	SYNE1	6	152737569	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	82325729	152737569	18377498	30	6201											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431218	117431218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggctgtctgaggcacctgGtctacaggatgaggcactaa	10	8	14	9	0	2	2	0	2	2	0	2	4	2	3	1	5	1	3	1	5	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr7:117431218G>A	ENST00000160373.3	-	4	2123	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	678					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACCTGGTCTACAGGAT	0.468																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2032-2034)Cca>Tca		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							114	108	110					7																	117431218		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431218G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2032C>T	7.37:g.117431218G>A	ENSP00000160373:p.Pro678Ser						p.P678S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	2124	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		678					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2032C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381049	0.24944	.	.	ENSG00000077063	ENST00000160373	T	0.66995	-0.24	5.53	1.72	0.24424	.	0.291405	0.42821	D	0.000645	T	0.53738	0.1815	L	0.52266	1.64	0.45502	D	0.99846	B	0.33103	0.397	B	0.28638	0.092	T	0.40869	-0.9540	10	0.27082	T	0.32	0.4248	9.8944	0.41309	0.0:0.1566:0.5111:0.3324	.	678	Q8WZ74	CTTB2_HUMAN	S	678	ENSP00000160373:P678S	ENSP00000160373:P678S	P	-	1	0	CTTNBP2	117218454	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.766000	0.38491	0.102000	0.17638	0.563000	0.77884	CCA		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117431218	G	A	117431218	3	1	93	1	0	0	0	0	1	0	0	0	4045	1261	44	3	3039	3	CTTNBP2	7	117431218	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		117431218	41707445	31	6202											
XKR9	389668	broad.mit.edu	37	chr8	71593354	71593354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattataatctacgtaactGatttaattgtggacatatgg	13	15	8	5	1	1	1	0	1	1	0	1	2	1	2	0	2	2	2	0	2	6	8			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:71593354G>T	ENST00000408926.3	+	3	595	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.D21Y	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	21						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTACGTAACTGATTTAATTGT	0.318																																						uc003xyq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(61-63)Gat>Tat		Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.							184	183	183					8																	71593354		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71593354G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.61G>T	8.37:g.71593354G>T	ENSP00000386141:p.Asp21Tyr					XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Missense_Mutation_p.D21Y	p.D21Y	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		2	595	+	Breast(64;0.0716)		21					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.61G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997723	0.74818	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.75050	-0.9;-0.9;-0.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87099	0.6093	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88765	0.3260	10	0.87932	D	0	-16.1329	15.9921	0.80214	0.0:0.0:1.0:0.0	.	21	Q5GH70	XKR9_HUMAN	Y	21	ENSP00000386141:D21Y;ENSP00000431088:D21Y;ENSP00000428904:D21Y	ENSP00000386141:D21Y	D	+	1	0	XKR9	71755908	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.831000	0.69330	2.551000	0.86045	0.585000	0.79938	GAT		0.318	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		T	71593354	G	T	71593354	3	4	93	1	0	0	0	0	1	0	0	0	17435	1290	45	5	63	5	XKR9	8	71593354	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		71593354	74770668	32	6203											
EFR3A	23167	broad.mit.edu	37	chr8	132966108	132966108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaggtgtggttcgcAaaacagtcaacgatgaactt	13	11	10	7	2	2	1	2	1	0	0	3	2	2	1	0	2	3	3	0	2	6	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:132966108A>G	ENST00000254624.5	+	6	757	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E	EFR3A_ENST00000334503.4_Missense_Mutation_p.K178E|EFR3A_ENST00000519656.1_Missense_Mutation_p.K142E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	178						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGGTTCGCAAAACAGTCAA	0.353																																						uc003yte.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(532-534)Aaa>Gaa		Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.							71	58	63					8																	132966108		2201	4296	6497	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132966108A>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.532A>G	8.37:g.132966108A>G	ENSP00000254624:p.Lys178Glu						p.K178E	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		5	736	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		178					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.532A>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	32	5.173399	0.94807	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.19250	2.16;2.16;2.16	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55042	-0.8202	10	0.87932	D	0	-28.6953	14.9521	0.71083	1.0:0.0:0.0:0.0	.	178	Q14156	EFR3A_HUMAN	E	178;178;178;142	ENSP00000254624:K178E;ENSP00000334769:K178E;ENSP00000428086:K142E	ENSP00000254624:K178E	K	+	1	0	EFR3A	133035290	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.248000	0.95456	2.123000	0.65237	0.397000	0.26171	AAA		0.353	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		G	132966108	A	G	132966108	3	3	93	1	0	0	0	0	1	0	0	0	4958	131	5	4	554	4	EFR3A	8	132966108	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	61372754	132966108	13397914	33	6204											
FBXO10	26267	broad.mit.edu	37	chr9	37522884	37522884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaaccacaccatctgaaTagccaaagcagatgaggtta	16	6	7	12	0	1	3	0	2	1	1	1	3	1	3	4	1	3	2	4	1	5	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:37522884T>C	ENST00000432825.2	-	7	1916	c.1868A>G	c.(1867-1869)tAt>tGt	p.Y623C	FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.Y148C	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	623					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATCTGAATAGCCAAAGCA	0.542																																						uc004aac.3																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1915-1917)tAt>tGt		Homo sapiens F-box protein 10 (FBXO10), mRNA.							74	82	80					9																	37522884		1976	4144	6120	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37522884T>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1868A>G	9.37:g.37522884T>C	ENSP00000403802:p.Tyr623Cys					FBXO10_uc004aab.3_Missense_Mutation_p.Y623C|FBXO10_uc004aad.3_Missense_Mutation_p.Y173C	p.Y639C	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	6	1996	-			623					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.1916A>G	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335510	0.60853	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T	0.79454	-1.27	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);	0.210137	0.42821	D	0.000660	D	0.84170	0.5413	L	0.54323	1.7	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.983;0.935;0.975	D	0.84254	0.0479	10	0.45353	T	0.12	-27.5831	13.5946	0.61982	0.0:0.0:0.0:1.0	.	502;148;623	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	C	623;148	ENSP00000403802:Y623C	ENSP00000403802:Y623C	Y	-	2	0	FBXO10	37512884	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	3.600000	0.54052	2.051000	0.60960	0.533000	0.62120	TAT		0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			C	37522884	T	C	37522884	3	2	93	1	0	0	0	0	1	0	0	0	5726	1406	49	4	1022	4	FBXO10	9	37522884	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08		37522884	103690547	34	6205											
LOC645961	645961	broad.mit.edu	37	chr9	90744952	90744952	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttattgaaggaggctgtttCtttgatggcagtagctggac	8	14	13	6	0	1	2	0	2	1	0	1	4	1	4	0	4	1	5	0	4	3	5			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:90744952C>T								U6 (131702 upstream) : U3 (244231 downstream)																							GAGGCTGTTTCTTTGATGGCA	0.438																																						uc011lti.2																			0											c.(2998-3000)aaG>aaA		Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.							87	77	80					9																	90744952		692	1590	2282	SO:0001628	intergenic_variant	645961							g.chr9:90744952C>T																													9.37:g.90744952C>T						DQ587746_uc004apx.1_5'Flank	p.K1000K	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN			3	3029	-			1000						Silent	SNP		37	c.3000G>A																																																																																				0	0.438									T	90744952	C	T	90744952	1	4	93	0	1	0	0	0	0	0	0	0	8883	912	32	3		3	LOC645961	9	90744952	IGR	SNP	C	TCGA-06-5417-01A-01D-1486-08	53222068	90744952	50468479	35	6206											
OR13C8	138802	broad.mit.edu	37	chr9	107332296	107332296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccctcatctccctttTctatggagtgatgactccca	7	13	8	13	0	3	3	1	3	2	0	5	4	4	4	3	2	0	0	3	2	1	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:107332296T>C	ENST00000335040.1	+	1	848	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCTCCCTTTTCTATGGAGTG	0.408																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(847-849)tTc>tCc		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							97	86	90					9																	107332296		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332296T>C		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.848T>C	9.37:g.107332296T>C	ENSP00000334068:p.Phe283Ser						p.F283S	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			0	848	+			283					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.848T>C	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676458	0.47886	.	.	ENSG00000186943	ENST00000335040	T	0.00216	8.53	4.9	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.311897	0.28082	N	0.016668	T	0.00412	0.0013	M	0.68593	2.085	0.31545	N	0.659498	D	0.63880	0.993	D	0.70227	0.968	T	0.49762	-0.8905	10	0.59425	D	0.04	.	8.946	0.35758	0.0:0.0889:0.0:0.9111	.	283	Q8NGS7	O13C8_HUMAN	S	283	ENSP00000334068:F283S	ENSP00000334068:F283S	F	+	2	0	OR13C8	106372117	0.000000	0.05858	1.000000	0.80357	0.802000	0.45316	0.413000	0.21148	1.002000	0.39104	0.459000	0.35465	TTC		0.408	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			C	107332296	T	C	107332296	3	2	93	1	0	0	0	0	1	0	0	0	10938	1783	62	4	850	4	OR13C8	9	107332296	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	16587344	107332296	33881135	36	6207											
OR4S1	256148	broad.mit.edu	37	chr11	48328474	48328474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctgaggaccggcgtaagGctgtctccacatgtggctca	8	9	12	12	2	3	1	1	1	2	0	4	2	3	2	2	4	0	3	2	4	1	1	rs377193891		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:48328474G>T	ENST00000319988.1	+	1	700	c.700G>T	c.(700-702)Gct>Tct	p.A234S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCGGCGTAAGGCTGTCTCCAC	0.468																																						uc010rhu.2																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(700-702)Gct>Tct		Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.		G	SER/ALA	0,4402		0,0,2201	229	207	215		700	4.1	0.7	11		215	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR4S1	NM_001004725.1	99	0,1,6498	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	234/310	48328474	1,12997	2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328474G>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.700G>T	11.37:g.48328474G>T	ENSP00000321447:p.Ala234Ser						p.A234S	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			0	700	+			234					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.700G>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830759	0.50845	0.0	1.16E-4	ENSG00000176555	ENST00000319988	T	0.00359	7.87	5.02	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01222	0.0040	H	0.94462	3.54	0.41059	D	0.985366	D	0.89917	1.0	D	0.85130	0.997	T	0.49143	-0.8970	9	0.87932	D	0	.	13.0462	0.58928	0.0:0.0:0.8375:0.1625	.	234	Q8NGB4	OR4S1_HUMAN	S	234	ENSP00000321447:A234S	ENSP00000321447:A234S	A	+	1	0	OR4S1	48285050	1.000000	0.71417	0.698000	0.30274	0.016000	0.09150	6.385000	0.73182	1.260000	0.44134	-0.127000	0.14921	GCT		0.468	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		T	48328474	G	T	48328474	3	4	93	1	0	0	0	0	1	0	0	0	11082	1203	42	5	702	5	OR4S1	11	48328474	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		48328474	86678042	37	6208											
CD5	921	broad.mit.edu	37	chr11	60890382	60890382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctccttccccaggccAggatccaaaccccgcaggcc	7	7	7	20	1	1	0	0	0	1	0	5	1	5	1	9	3	1	1	9	3	1	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:60890382A>G	ENST00000347785.3	+	7	1269	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	368	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCCCAGGCCAGGATCCAAAC	0.657																																						uc009ynk.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1102-1104)cAg>cGg		Homo sapiens CD5 molecule (CD5), mRNA.							58	62	61					11																	60890382		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60890382A>G	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1103A>G	11.37:g.60890382A>G	ENSP00000342681:p.Gln368Arg						p.Q368R	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	6	1206	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	368			SRCR 3.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1103A>G	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	A	9.947	1.219039	0.22373	.	.	ENSG00000110448	ENST00000347785	T	0.28255	1.62	4.8	3.67	0.42095	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.257566	0.27306	N	0.019980	T	0.33469	0.0864	M	0.76574	2.34	0.80722	D	1	B	0.19935	0.04	B	0.26416	0.069	T	0.09314	-1.0680	10	0.39692	T	0.17	-5.6331	8.6629	0.34103	0.9106:0.0:0.0894:0.0	.	368	P06127	CD5_HUMAN	R	368	ENSP00000342681:Q368R	ENSP00000342681:Q368R	Q	+	2	0	CD5	60646958	1.000000	0.71417	0.832000	0.32986	0.211000	0.24417	3.507000	0.53371	0.701000	0.31803	0.247000	0.18012	CAG		0.657	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		G	60890382	A	G	60890382	3	3	93	1	0	0	0	0	1	0	0	0	3021	188	7	4	1129	4	CD5	11	60890382	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	12561908	60890382	74116134	38	6209											
TUT1	64852	broad.mit.edu	37	chr11	62343579	62343579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtcctggagattcagggGgccaaggcgcagaccctccc	8	5	15	13	1	1	2	1	0	0	2	3	3	3	2	4	5	0	1	4	5	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:62343579G>A	ENST00000476907.1	-	9	2303	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.P576S|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000329251.4_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	538	PAP-associated.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGATTCAGGGGGCCAAGGCGC	0.637																																						uc001nto.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1726-1728)Ccc>Tcc		Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.							23	26	25					11																	62343579		2198	4291	6489	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62343579G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1612C>T	11.37:g.62343579G>A	ENSP00000419607:p.Pro538Ser					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	p.P576S	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			8	1764	-			538					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.1726C>T		.	.	.	.	.	.	.	.	.	.	G	18.58	3.654502	0.67472	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.55413	0.52;0.52	5.39	4.48	0.54585	PAP/25A-associated (1);	0.115106	0.64402	N	0.000012	T	0.59252	0.2180	L	0.34521	1.04	0.44366	D	0.997264	D;D	0.55172	0.97;0.963	D;P	0.65684	0.937;0.852	T	0.61182	-0.7114	10	0.59425	D	0.04	-18.5405	11.8888	0.52618	0.0849:0.0:0.9151:0.0	.	538;576	Q9H6E5;F5H0R1	STPAP_HUMAN;.	S	576;538	ENSP00000308000:P576S;ENSP00000419607:P538S	ENSP00000308000:P576S	P	-	1	0	TUT1	62100155	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.269000	0.65542	1.282000	0.44496	-0.253000	0.11424	CCC		0.637	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		A	62343579	G	A	62343579	3	1	93	1	0	0	0	0	1	0	0	0	16777	1232	43	3	1016	3	TUT1	11	62343579	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	1453197	62343579	72662937	39	6210											
C11orf92	399948	broad.mit.edu	37	chr11	111166838	111166838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaactcattaatgttgAgctacaaaccagagggaagc	17	7	8	9	0	1	2	1	1	0	1	1	3	1	3	2	1	5	2	2	1	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:111166838A>G	ENST00000532918.1	-	2	2771	c.366T>C	c.(364-366)gcT>gcC	p.A122A	COLCA1_ENST00000526150.1_5'Flank|COLCA1_ENST00000540738.1_Silent_p.A122A|COLCA1_ENST00000355430.4_Silent_p.A122A			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	122						integral component of membrane (GO:0016021)|membrane (GO:0016020)											ATTAATGTTGAGCTACAAACC	0.433																																						uc001pld.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3								Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA.							54	60	58					11																	111166838		2201	4297	6498	SO:0001819	synonymous_variant	399948							g.chr11:111166838A>G	AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"cancer susceptibility candidate 12"	615693	"chromosome 11 open reading frame 92"	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.366T>C	11.37:g.111166838A>G						C11orf92_uc001ple.3_Non-coding_Transcript								1		-									Silent	SNP	ENST00000532918.1	37	c.2775T>C																																																																																					0.433	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1			G	111166838	A	G	111166838	2	3	93	1	0	0	0	0	0	0	0	1	1672	291	11	4		4	C11orf92	11	111166838	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	48823259	111166838	23839678	40	6211											
BUD13	84811	broad.mit.edu	37	chr11	116627935	116627935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgctggaccactgtagcGaggtctcactaatgagagga	11	8	14	8	1	1	1	1	1	1	1	2	5	1	3	1	4	2	2	1	4	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:116627935G>A	ENST00000260210.4	-	9	1716	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BUD13_ENST00000375445.3_Missense_Mutation_p.R431C	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	565					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCACTGTAGCGAGGTCTCACT	0.413																																						uc001ppn.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1693-1695)Cgc>Tgc		Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.							72	70	71					11																	116627935		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116627935G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1693C>T	11.37:g.116627935G>A	ENSP00000260210:p.Arg565Cys					BUD13_uc001ppo.3_Missense_Mutation_p.R431C	p.R565C	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	8	1727	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	565					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1693C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487326	0.44249	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.20332	2.13;2.08	6.04	6.04	0.98038	.	0.048954	0.85682	D	0.000000	T	0.23410	0.0566	L	0.51914	1.62	0.80722	D	1	B;B	0.22851	0.03;0.076	B;B	0.25506	0.018;0.061	T	0.01753	-1.1281	10	0.87932	D	0	-9.1507	13.4467	0.61144	0.0:0.0:0.7438:0.2562	.	431;565	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	C	431;565	ENSP00000364594:R431C;ENSP00000260210:R565C	ENSP00000260210:R565C	R	-	1	0	BUD13	116133145	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.875000	0.39578	2.873000	0.98535	0.643000	0.83706	CGC		0.413	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		A	116627935	G	A	116627935	3	1	93	1	0	0	0	0	1	0	0	0	1573	1058	37	2	174	2	BUD13	11	116627935	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	5461097	116627935	18378581	41	6212											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424277	6424277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgggagataggagaggGtggcgacagtggcctgacca	10	5	18	8	1	0	3	0	1	0	2	0	6	0	3	2	5	0	1	2	5	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:6424277G>A	ENST00000396988.3	+	4	631	c.401G>A	c.(400-402)gGt>gAt	p.G134D	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.G134D|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.G134D|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.G102D	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	134						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATAGGAGAGGGTGGCGACAGT	0.632																																						uc001qnr.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(400-402)gGt>gAt		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.							67	62	64					12																	6424277		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424277G>A	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.401G>A	12.37:g.6424277G>A	ENSP00000380185:p.Gly134Asp					PLEKHG6_uc001qns.3_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.2_Missense_Mutation_p.G102D	p.G134D	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			3	549	+			134					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.401G>A	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939672	0.18281	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.62232	0.15;0.19;0.15;0.04	5.0	3.11	0.35812	.	0.248463	0.28766	N	0.014214	T	0.39627	0.1085	L	0.27053	0.805	0.52501	D	0.999959	B;B;B	0.16166	0.004;0.004;0.016	B;B;B	0.17722	0.008;0.008;0.019	T	0.21724	-1.0237	10	0.02654	T	1	-20.2037	6.8894	0.24220	0.0945:0.175:0.7305:0.0	.	102;134;134	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	D	134;134;134;102	ENSP00000011684:G134D;ENSP00000442836:G134D;ENSP00000380185:G134D;ENSP00000393194:G102D	ENSP00000011684:G134D	G	+	2	0	PLEKHG6	6294538	0.945000	0.32115	0.342000	0.25602	0.972000	0.66771	1.590000	0.36654	0.663000	0.31027	0.591000	0.81541	GGT		0.632	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6424277	G	A	6424277	3	1	93	1	0	0	0	0	1	0	0	0	12074	1261	44	3	457	3	PLEKHG6	12	6424277	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		6424277	127427618	42	6213											
LRP1	4035	broad.mit.edu	37	chr12	57563089	57563089	+	Splice_Site	DEL	G	G	-																															cacgccaactgcaccaaccaGggtgggcaccaggggcccgt																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:57563089delG	ENST00000243077.3	+	20	3628	c.3162delG	c.(3160-3162)cag>ca	p.Q1054fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1054					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCAACCAGGGTGGGCACC	0.622																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.e20+1		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						38	34	35					12																	57563089		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57563089delG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3163+1G>-	12.37:g.57563089delG						LRP1_uc009zpi.1_Splice_Site	p.A1055_splice	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3629	+			1055					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.3163_splice	CCDS8932.1																																																																																				0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Frame_Shift_Del	-	57563089	G	-	57563089	8	5	93	1	0	1	0	1	0	0	1	0	8951	1014	35	0	3240	0	LRP1	12	57563089	Splice_Site	DEL	G	TCGA-06-5417-01A-01D-1486-08	51138812	57563089	76288806	43	6214											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450521	85450521	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaacccaaaagacaatgcTtggaatagtggcattgtgat	15	9	11	6	0	0	3	0	1	0	2	0	5	0	4	1	2	2	2	1	2	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:85450521T>C	ENST00000393217.2	+	8	2011	c.1950T>C	c.(1948-1950)gcT>gcC	p.A650A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	650										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACAATGCTTGGAATAGTG	0.313																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1948-1950)gcT>gcC		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							70	71	70					12																	85450521		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85450521T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1950T>C	12.37:g.85450521T>C						LRRIQ1_uc021rbo.1_Silent_p.A528A|LRRIQ1_uc001taa.1_Silent_p.A625A	p.A650A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	7	2061	+			650					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1950T>C	CCDS41816.1																																																																																				0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85450521	T	C	85450521	2	2	93	1	0	0	0	0	0	0	0	1	9029	1596	56	4		4	LRRIQ1	12	85450521	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	27887432	85450521	48401374	44	6215											
NR2C1	7181	broad.mit.edu	37	chr12	95442924	95442924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatctccagtgattaggtGtacacttccttccatgcccg	8	13	8	12	1	1	2	0	2	1	0	4	2	3	2	4	1	2	1	4	1	3	4	rs149986233		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:95442924G>T	ENST00000333003.5	-	9	1381	c.1051C>A	c.(1051-1053)Cac>Aac	p.H351N	NR2C1_ENST00000330677.7_Missense_Mutation_p.H351N|NR2C1_ENST00000393101.3_Missense_Mutation_p.H351N|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	351					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTGATTAGGTGTACACTTCCT	0.443																																						uc001tdm.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1051-1053)Cac>Aac		Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.							151	129	137					12																	95442924		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95442924G>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1051C>A	12.37:g.95442924G>T	ENSP00000333275:p.His351Asn					NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdn.4_Missense_Mutation_p.H351N|NR2C1_uc001tdo.4_Missense_Mutation_p.H351N	p.H351N	NM_003297	NP_003288	P13056	NR2C1_HUMAN			8	1307	-			351					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1051C>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	7.153	0.584207	0.13749	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.91124	-2.79;-2.5;-2.51	6.05	4.18	0.49190	Nuclear hormone receptor, ligand-binding (1);	0.371713	0.34200	N	0.004167	D	0.84005	0.5377	L	0.35854	1.095	0.24634	N	0.993602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.09377	0.002;0.001;0.004;0.001	T	0.66372	-0.5940	10	0.15066	T	0.55	.	11.6768	0.51434	0.0:0.2528:0.6159:0.1313	.	351;351;351;351	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	N	351	ENSP00000333275:H351N;ENSP00000376813:H351N;ENSP00000328843:H351N	ENSP00000328843:H351N	H	-	1	0	NR2C1	93967055	1.000000	0.71417	0.055000	0.19348	0.163000	0.22366	4.566000	0.60843	0.846000	0.35142	0.650000	0.86243	CAC		0.443	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		T	95442924	G	T	95442924	3	4	93	1	0	0	0	0	1	0	0	0	10622	1377	48	5	862	5	NR2C1	12	95442924	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	9992403	95442924	38408971	45	6216											
ELK3	2004	broad.mit.edu	37	chr12	96640864	96640864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaaggcgtctccggagggCcgcgaggcccacaaacacgg	9	3	15	14	5	1	0	0	0	1	0	2	2	1	1	3	5	2	1	3	5	2	0			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:96640864C>T	ENST00000228741.3	+	3	680	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	118					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTCCGGAGGGCCGCGAGGCCC	0.612																																						uc001teo.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(352-354)ggC>ggT		Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.							58	59	58					12																	96640864		2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96640864C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.354C>T	12.37:g.96640864C>T							p.G118G	NM_005230	NP_005221	P41970	ELK3_HUMAN			2	633	+	all_cancers(2;0.00173)		118					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.354C>T	CCDS9060.1																																																																																				0.612	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		T	96640864	C	T	96640864	2	4	93	1	0	0	0	0	0	0	0	1	5060	726	26	3		3	ELK3	12	96640864	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	1197940	96640864	37211031	46	6217											
TPTE2	93492	broad.mit.edu	37	chr13	20039439	20039439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatccatcccttgtgtatCgccttttgttttctgaaacc	8	16	5	12	1	1	1	0	1	1	0	4	1	3	1	4	0	1	2	4	0	3	6	rs146223410	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr13:20039439C>T	ENST00000400230.2	-	9	676	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	TPTE2_ENST00000382978.1_Missense_Mutation_p.R171Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R134Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R134Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R100Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R100Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R171Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R211Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	211	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R134Q(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTGTGTATCGCCTTTTGTT	0.308													c|||	2	0.000399361	0.0015	0	5008	,	,		18849	0		0	False		,,,				2504	0					uc001umd.3																			1	Substitution - Missense(1)	p.R134Q(1)	NS(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(631-633)cGa>cAa		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	189	173	179		299,401,632	2.5	0	13	dbSNP_134	179	0,8600		0,0,4300	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	43,43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	100/412,134/446,211/523	20039439	5,13001	2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039439C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.632G>A	13.37:g.20039439C>T	ENSP00000383089:p.Arg211Gln					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R100Q|TPTE2_uc001ume.3_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R211Q	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	843	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	211			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.632G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	12.38	1.920167	0.33908	0.001135	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	2.55	2.55	0.30701	Phosphatase tensin type (1);	0.060868	0.64402	N	0.000002	T	0.50922	0.1644	M	0.77820	2.39	0.41615	D	0.988934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.982;0.989;0.997	T	0.53092	-0.8487	9	.	.	.	-11.0328	8.72	0.34434	0.0:1.0:0.0:0.0	.	100;134;211	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	171;100;211;134;134;211;171;100;211;80	ENSP00000372438:R171Q;ENSP00000382974:R100Q;ENSP00000383089:R211Q;ENSP00000255310:R134Q;ENSP00000375098:R134Q;ENSP00000372437:R211Q;ENSP00000372435:R171Q;ENSP00000442218:R100Q	.	R	-	2	0	TPTE2	18937439	1.000000	0.71417	0.030000	0.17652	0.029000	0.11900	5.417000	0.66423	1.724000	0.51502	0.467000	0.42956	CGA		0.308	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		T	20039439	C	T	20039439	3	4	93	1	0	0	0	0	1	0	0	0	16428	884	31	2	984	2	TPTE2	13	20039439	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		20039439	95130439	47	6218											
GZMB	3002	broad.mit.edu	37	chr14	25102156	25102156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtcagcacgaagtcGtctcgtatcaggaagccacc	10	7	11	13	3	3	0	2	0	1	0	5	2	3	1	2	1	3	4	2	1	3	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr14:25102156G>A	ENST00000216341.4	-	2	274	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GZMB_ENST00000382540.1_Silent_p.D56D|GZMB_ENST00000526004.1_Silent_p.D56D|GZMB_ENST00000415355.3_Silent_p.D44D|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Silent_p.D90D|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	56	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCACGAAGTCGTCTCGTATCA	0.572																																						uc001wps.2																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(166-168)gaC>gaT		Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.							92	84	87					14																	25102156		2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102156G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.168C>T	14.37:g.25102156G>A						GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_Non-coding_Transcript	p.D56D	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	1	234	-			56			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.168C>T	CCDS9633.1																																																																																				0.572	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		A	25102156	G	A	25102156	2	1	93	1	0	0	0	0	0	0	0	1	6916	1136	40	1		1	GZMB	14	25102156	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08		25102156	82247384	48	6219											
RYR3	6263	broad.mit.edu	37	chr15	34137199	34137199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatggcaccaaccctgcGtgccctggccatcatccata	9	9	8	15	1	1	0	1	0	0	0	2	0	2	0	5	2	3	2	5	2	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:34137199G>T	ENST00000389232.4	+	93	13503	c.13433G>T	c.(13432-13434)cGt>cTt	p.R4478L	RYR3_ENST00000415757.3_Missense_Mutation_p.R4473L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4478					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAACCCTGCGTGCCCTGGCC	0.502																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13432-13434)cGt>cTt		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							141	140	140					15																	34137199		2040	4201	6241	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137199G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13433G>T	15.37:g.34137199G>T	ENSP00000373884:p.Arg4478Leu					RYR3_uc010bar.3_Missense_Mutation_p.R4473L	p.R4478L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	92	13503	+		all_lung(180;7.18e-09)	4478					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13433G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130298	0.56721	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94232	-3.38	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.103858	0.48767	D	0.000168	D	0.95456	0.8524	M	0.72479	2.2	0.42367	D	0.992436	D;D	0.69078	0.997;0.99	D;D	0.69142	0.919;0.962	D	0.93692	0.7008	10	0.31617	T	0.26	.	12.6764	0.56897	0.0752:0.0:0.9248:0.0	.	4473;4478	Q15413-2;Q15413	.;RYR3_HUMAN	L	4478;4474	ENSP00000373884:R4478L	ENSP00000354735:R4474L	R	+	2	0	RYR3	31924491	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	5.244000	0.65400	2.884000	0.98904	0.655000	0.94253	CGT		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34137199	G	T	34137199	3	4	93	1	0	0	0	0	1	0	0	0	13770	1145	40	5	13803	5	RYR3	15	34137199	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		34137199	68394193	49	6220											
LACTB	114294	broad.mit.edu	37	chr15	63433763	63433763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcgtggggtgttgtggAaaggaaacaaacgtatggtt	12	10	16	3	2	0	0	0	0	0	0	0	2	0	2	0	6	2	3	0	6	5	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:63433763A>G	ENST00000261893.4	+	6	1475	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	468						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGTGTTGTGGAAAGGAAACAA	0.483																																					Melanoma(85;443 1381 6215 27308 35583)	uc002alw.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(1402-1404)gAa>gGa		Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							78	68	71					15																	63433763		2203	4300	6503	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63433763A>G	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1403A>G	15.37:g.63433763A>G	ENSP00000261893:p.Glu468Gly						p.E468G	NM_032857	NP_116246	P83111	LACTB_HUMAN			5	1475	+			468					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.1403A>G	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280394	0.59758	.	.	ENSG00000103642	ENST00000261893	T	0.41065	1.01	5.64	5.64	0.86602	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.54323	1.7	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	T	0.54616	-0.8267	10	0.48119	T	0.1	-25.3143	15.3269	0.74172	1.0:0.0:0.0:0.0	.	468	P83111	LACTB_HUMAN	G	468	ENSP00000261893:E468G	ENSP00000261893:E468G	E	+	2	0	LACTB	61220816	1.000000	0.71417	0.999000	0.59377	0.652000	0.38707	8.990000	0.93510	2.273000	0.75805	0.460000	0.39030	GAA		0.483	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		G	63433763	A	G	63433763	3	3	93	1	0	0	0	0	1	0	0	0	8597	246	9	4	1429	4	LACTB	15	63433763	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	29296564	63433763	39097629	50	6221											
BAIAP3	8938	broad.mit.edu	37	chr16	1392020	1392020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatccctggtagaagcGtgcaggaagctgaatgaagt	12	9	14	6	1	0	3	0	2	0	1	1	5	1	4	1	2	3	4	1	2	6	2	rs373003886		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:1392020G>A	ENST00000324385.5	+	10	1073	c.915G>A	c.(913-915)gcG>gcA	p.A305A	BAIAP3_ENST00000568887.1_Silent_p.A242A|BAIAP3_ENST00000397488.2_Silent_p.A287A|BAIAP3_ENST00000562208.1_Silent_p.A247A|BAIAP3_ENST00000397489.1_Silent_p.A287A|BAIAP3_ENST00000426824.3_Silent_p.A270A|BAIAP3_ENST00000421665.2_Silent_p.A270A	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	305	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGTAGAAGCGTGCAGGAAGC	0.617																																						uc002clk.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(913-915)gcG>gcA		Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.		G	,,,,	0,4398		0,0,2199	87	68	74		810,810,741,726,915	-10.5	0.1	16		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,,,	270/1117,270/1153,247/1130,242/1125,305/1188	1392020	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1392020G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.915G>A	16.37:g.1392020G>A						BAIAP3_uc010uuz.2_Silent_p.A270A|BAIAP3_uc010uva.2_Silent_p.A242A|BAIAP3_uc021tag.1_Silent_p.A247A|BAIAP3_uc002clj.3_Silent_p.A287A|BAIAP3_uc010uvb.2_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	p.A305A	NM_003933	NP_001186026	O94812	BAIP3_HUMAN			9	1073	+		Hepatocellular(780;0.0893)	305			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.915G>A	CCDS10434.1																																																																																				0.617	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			A	1392020	G	A	1392020	2	1	93	1	0	0	0	0	0	0	0	1	1304	1132	40	1		1	BAIAP3	16	1392020	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08		1392020	88962733	51	6222											
PPL	5493	broad.mit.edu	37	chr16	4952435	4952435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaccagtgccgcccagTtgacctgtggatccacttcc	6	9	8	18	1	0	1	0	1	0	0	3	2	3	2	8	1	1	1	8	1	0	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:4952435T>C	ENST00000345988.2	-	4	499	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PPL_ENST00000590782.2_Missense_Mutation_p.N137S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	137					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCGCCCAGTTGACCTGTGG	0.637																																						uc002cyd.1																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(409-411)aAc>aGc		Homo sapiens periplakin (PPL), mRNA.							154	120	131					16																	4952435		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4952435T>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.410A>G	16.37:g.4952435T>C	ENSP00000340510:p.Asn137Ser						p.N137S	NM_002705	NP_002696	O60437	PEPL_HUMAN			3	500	-			137					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.410A>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487643	0.84854	.	.	ENSG00000118898	ENST00000345988	T	0.67523	-0.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.64997	1.995	0.48341	D	0.999631	P	0.52463	0.953	B	0.41946	0.371	T	0.70630	-0.4819	10	0.66056	D	0.02	.	13.2333	0.59955	0.0:0.0:0.0:1.0	.	137	O60437	PEPL_HUMAN	S	137	ENSP00000340510:N137S	ENSP00000340510:N137S	N	-	2	0	PPL	4892436	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.303000	0.78871	1.873000	0.54277	0.528000	0.53228	AAC		0.637	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		C	4952435	T	C	4952435	3	2	93	1	0	0	0	0	1	0	0	0	12334	1725	60	4	4936	4	PPL	16	4952435	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	3560415	4952435	85402318	52	6223											
TP53	7157	broad.mit.edu	37	chr17	7577517	7577517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagtcttccagtgtgAtgatggtgaggatgggcctc	7	11	15	8	0	1	3	0	3	1	0	3	5	2	5	3	4	0	0	3	4	0	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7577517A>C	ENST00000269305.4	-	7	953	c.764T>G	c.(763-765)aTc>aGc	p.I255S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.I255S|TP53_ENST00000413465.2_Missense_Mutation_p.I255S|TP53_ENST00000445888.2_Missense_Mutation_p.I255S|TP53_ENST00000455263.2_Missense_Mutation_p.I255S|TP53_ENST00000420246.2_Missense_Mutation_p.I255S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCAGTGTGATGATGGTGAG	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	p.I255S(18)|p.I255F(18)|p.I255del(14)|p.I255T(14)|p.I255N(14)|p.0?(8)|p.I254F(7)|p.I254S(6)|p.I254V(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(763-765)aTc>aGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							145	104	118					17																	7577517		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577517A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764T>G	17.37:g.7577517A>C	ENSP00000269305:p.Ile255Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.3_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.I255S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	958	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	255		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.764T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251627	0.59212	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.99654	0.9872	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.994;0.999;1.0;1.0	D;P;D;D;D	0.87578	0.996;0.901;0.996;0.998;0.998	D	0.97461	1.0034	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	255;255;255;255;255;255;244;123	ENSP00000410739:I255S;ENSP00000352610:I255S;ENSP00000269305:I255S;ENSP00000398846:I255S;ENSP00000391127:I255S;ENSP00000391478:I255S;ENSP00000425104:I123S	ENSP00000269305:I255S	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577517	A	C	7577517	3	2	93	1	0	0	0	0	1	0	0	0	16378	333	12	5	526	5	TP53	17	7577517	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08		7577517	73617693	53	6224											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	p.R196*	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	93	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	746	7578263	73616947	54	6225											
POLDIP2	7126	broad.mit.edu	37	chr17	26675209	26675209	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagggagaagggaggaatCcgaacatcaaagtgggagcc	14	4	15	8	1	1	1	1	0	0	1	3	6	3	4	3	4	2	0	3	4	4	0			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:26675209C>A	ENST00000226225.2	+	0	3627				POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Silent_p.R346R	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)						apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGGAGGAATCCGAACATCAA	0.547																																						uc002haz.3																			0											c.(1033-1035)cgG>cgT		Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.							103	104	104					17																	26675209		1899	4124	6023	SO:0001628	intergenic_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26675209C>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501		17.37:g.26675209C>A						POLDIP2_uc010wag.2_Non-coding_Transcript	p.R345R	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	11	1165	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		347			ApaG.		B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	c.1035G>T	CCDS11227.1																																																																																				0.547	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		A	26675209	C	A	26675209	1	1	93	0	1	0	0	0	0	0	0	0	12194	842	30	5		5	POLDIP2	17	26675209	IGR	SNP	C	TCGA-06-5417-01A-01D-1486-08	19096946	26675209	54520001	55	6226											
CDK12	51755	broad.mit.edu	37	chr17	37618715	37618716	+	Frame_Shift_Ins	INS	-	-	A																															agctaaacagaccgaaaaagINSaaaaaagccaagaagtctcc																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:37618715_37618716insA	ENST00000447079.4	+	1	424_425	c.391_392insA	c.(391-393)gaafs	p.E131fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.E131fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	131					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGAAAAAGAAAAAAGCCAA	0.52			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.3				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(391-393)gaafs		Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618715_37618716insA	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.397dupA	17.37:g.37618721_37618721dupA	ENSP00000398880:p.Glu131fs	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.E131fs	p.E131fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			0	977_978	+			131					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.391_392insA	CCDS11337.1																																																																																				0.52	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37618716	-	A	37618715	7	5	93	1	0	1	1	0	0	0	0	0	3128	943	33	0	393	0	CDK12	17	37618715	Frame_Shift_Ins	INS	-	TCGA-06-5417-01A-01D-1486-08	10943506	37618715	43576495	56	6227											
ZNF544	27300	broad.mit.edu	37	chr19	58772645	58772645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctagagctttctgtcagAgtatttacttgagtaaactt	10	16	9	6	0	2	3	1	1	1	2	2	3	2	3	0	0	4	4	0	0	5	8			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr19:58772645A>C	ENST00000596652.1	+	6	907	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S83R|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.S197R|ZNF544_ENST00000415203.2_Missense_Mutation_p.S197R|ZNF544_ENST00000269829.4_Missense_Mutation_p.S225R|ZNF544_ENST00000600220.1_Missense_Mutation_p.S197R|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTTCTGTCAGAGTATTTACTT	0.378																																						uc010euo.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(673-675)Agt>Cgt		Homo sapiens zinc finger protein 544 (ZNF544), mRNA.							65	66	66					19																	58772645		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772645A>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.673A>C	19.37:g.58772645A>C	ENSP00000469635:p.Ser225Arg					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.S197R|ZNF544_uc010yhy.2_Missense_Mutation_p.S197R|ZNF544_uc002qrt.4_Missense_Mutation_p.S83R|ZNF544_uc002qru.4_Missense_Mutation_p.S83R|BC063675_uc002qrx.1_Intron	p.S225R	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	1147	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	225					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.673A>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	5.329	0.246026	0.10077	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.10960	2.88;2.82	3.14	0.834	0.18880	.	.	.	.	.	T	0.08268	0.0206	N	0.21194	0.64	0.09310	N	0.999996	D;B;B	0.54964	0.969;0.041;0.105	P;B;B	0.47603	0.551;0.05;0.095	T	0.29181	-1.0020	9	0.32370	T	0.25	.	4.6876	0.12765	0.6163:0.1951:0.0:0.1886	.	197;197;225	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	R	225;197	ENSP00000269829:S225R;ENSP00000394341:S197R	ENSP00000269829:S225R	S	+	1	0	ZNF544	63464457	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.230000	0.09083	0.096000	0.17463	0.533000	0.62120	AGT		0.378	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		C	58772645	A	C	58772645	3	2	93	1	0	0	0	0	1	0	0	0	17974	304	11	5	687	5	ZNF544	19	58772645	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08		58772645	356338	57	6228											
PANX2	56666	broad.mit.edu	37	chr22	50615879	50615879	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccatctcctacctgtgCacctactacgccacgcagaa	9	8	7	17	2	1	1	0	0	1	1	2	1	1	1	5	0	5	2	5	0	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr22:50615879C>A	ENST00000395842.2	+	2	738	c.738C>A	c.(736-738)tgC>tgA	p.C246*	PANX2_ENST00000159647.5_Nonsense_Mutation_p.C246*	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	246					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCTACCTGTGCACCTACTACG	0.706																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(736-738)tgC>tgA		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							21	21	21					22																	50615879		2192	4297	6489	SO:0001587	stop_gained	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615879C>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.738C>A	22.37:g.50615879C>A	ENSP00000379183:p.Cys246*					PANX2_uc003bjp.4_Nonsense_Mutation_p.C112*|PANX2_uc003bjo.4_Nonsense_Mutation_p.C246*	p.C246*	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	738	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	246					B7Z684|Q96RD5|Q9UGX8	Nonsense_Mutation	SNP	ENST00000395842.2	37	c.738C>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719066	0.89205	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	.	.	.	4.68	2.57	0.30868	.	0.112935	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-28.6318	10.272	0.43489	0.0:0.8377:0.0:0.1623	.	.	.	.	X	246	.	ENSP00000159647:C246X	C	+	3	2	PANX2	48958006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.927000	0.56499	0.420000	0.25954	0.484000	0.47621	TGC		0.706	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50615879	C	A	50615879	4	1	93	1	0	0	0	0	0	1	0	0	11421	718	25	5	744	5	PANX2	22	50615879	Nonsense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		50615879	688687	58	6229											
GEMIN8	54960	broad.mit.edu	37	chrX	14027172	14027172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcttcatctcggcctggcGccgctcaccaggcctctcag	5	8	10	18	4	4	0	3	0	2	0	6	0	4	0	4	3	0	2	4	3	0	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:14027172G>A	ENST00000380523.4	-	5	907	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GEMIN8_ENST00000398355.3_Missense_Mutation_p.R197C	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	197					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TCGGCCTGGCGCCGCTCACCA	0.612																																						uc004cwb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(589-591)Cgc>Tgc		Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.							74	69	71					X																	14027172		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027172G>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.589C>T	X.37:g.14027172G>A	ENSP00000369895:p.Arg197Cys					GEMIN8_uc004cwc.3_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.3_Missense_Mutation_p.R197C	p.R197C	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			4	932	-			197					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.589C>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.967392	0.74131	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.54279	0.58;0.58	5.42	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75747	-0.3209	10	0.62326	D	0.03	.	12.7847	0.57498	0.0:0.0:0.7309:0.2691	.	197	Q9NWZ8	GEMI8_HUMAN	C	197	ENSP00000369895:R197C;ENSP00000381398:R197C	ENSP00000369895:R197C	R	-	1	0	GEMIN8	13937093	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	2.058000	0.41374	2.291000	0.77112	0.529000	0.55759	CGC		0.612	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		A	14027172	G	A	14027172	3	1	93	1	0	0	0	0	1	0	0	0	6334	1087	38	1	143	1	GEMIN8	23	14027172	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		14027172	141243388	59	6230											
ZNF645	158506	broad.mit.edu	37	chrX	22292090	22292090	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatcatctggatatattAttgtaaaggtgccacctgat	12	14	7	8	0	2	1	1	1	1	0	3	2	3	2	3	2	1	1	3	2	5	5			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:22292090A>T	ENST00000323684.1	+	1	1026	c.982A>T	c.(982-984)Att>Ttt	p.I328F		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	328	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGATATATTATTGTAAAGGT	0.438																																						uc004dai.2																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(982-984)Att>Ttt		Homo sapiens zinc finger protein 645 (ZNF645), mRNA.							125	105	112					X																	22292090		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292090A>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.982A>T	X.37:g.22292090A>T	ENSP00000323348:p.Ile328Phe						p.I328F	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			0	1061	+			328			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.982A>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106163	0.37145	.	.	ENSG00000175809	ENST00000323684	T	0.34072	1.38	2.36	-1.67	0.08238	.	0.139694	0.47093	U	0.000258	T	0.36963	0.0986	L	0.50333	1.59	0.09310	N	1	D	0.57899	0.981	P	0.57101	0.813	T	0.27157	-1.0082	10	0.66056	D	0.02	.	2.7485	0.05273	0.5241:0.0:0.2749:0.2009	.	328	Q8N7E2	ZN645_HUMAN	F	328	ENSP00000323348:I328F	ENSP00000323348:I328F	I	+	1	0	ZNF645	22202011	0.921000	0.31238	0.000000	0.03702	0.008000	0.06430	3.097000	0.50251	-0.522000	0.06417	0.486000	0.48141	ATT		0.438	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		T	22292090	A	T	22292090	3	4	93	1	0	0	0	0	1	0	0	0	18058	449	16	5	984	5	ZNF645	23	22292090	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	8264918	22292090	132978470	60	6231											
CXorf22	170063	broad.mit.edu	37	chrX	35985840	35985840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcaatcagccatgacaCgcactcacaatcatcgctca	12	9	5	15	2	5	1	5	1	0	0	6	1	5	1	1	0	2	3	1	0	2	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:35985840C>T	ENST00000297866.5	+	10	1771	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	569										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCATGACACGCACTCACAA	0.453																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1705-1707)Cgc>Tgc		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							128	98	108					X																	35985840		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985840C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1705C>T	X.37:g.35985840C>T	ENSP00000297866:p.Arg569Cys					CXorf22_uc010ngv.3_Non-coding_Transcript	p.R569C	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			9	1771	+			569					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1705C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264365	0.23136	.	.	ENSG00000165164	ENST00000297866	T	0.14893	2.47	5.35	-10.5	0.00291	.	3.690700	0.00754	N	0.001095	T	0.07279	0.0184	N	0.16478	0.41	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.22417	-1.0217	10	0.42905	T	0.14	-29.6035	0.1415	0.00084	0.339:0.2048:0.1732:0.283	.	569	Q6ZTR5	CX022_HUMAN	C	569	ENSP00000297866:R569C	ENSP00000297866:R569C	R	+	1	0	CXorf22	35895761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.969000	0.01506	-2.074000	0.00877	-1.449000	0.01048	CGC		0.453	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35985840	C	T	35985840	3	4	93	1	0	0	0	0	1	0	0	0	4102	536	19	1	1743	1	CXorf22	23	35985840	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	13693750	35985840	119284720	61	6232											
EFHC2	80258	broad.mit.edu	37	chrX	44037748	44037748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcacacggtagtgaCgtgcaatggttacaaattct	11	10	10	10	2	2	1	1	1	1	0	2	1	2	1	1	3	2	4	1	3	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:44037748C>A	ENST00000420999.1	-	12	1897	c.1814G>T	c.(1813-1815)cGt>cTt	p.R605L	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	605							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACGGTAGTGACGTGCAATGGT	0.373																																						uc004dgb.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1813-1815)cGt>cTt		Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.							56	49	51					X																	44037748		1858	4089	5947	SO:0001583	missense	80258						calcium ion binding	g.chrX:44037748C>A	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1814G>T	X.37:g.44037748C>A	ENSP00000404232:p.Arg605Leu					EFHC2_uc022bvg.1_Missense_Mutation_p.R183L	p.R605L	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			11	1903	-			605					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.1814G>T	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160588	0.57368	.	.	ENSG00000183690	ENST00000343571;ENST00000333807;ENST00000420999	T;T	0.80393	-1.37;-1.37	5.53	5.53	0.82687	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.88860	0.3325	10	0.51188	T	0.08	-13.3911	13.987	0.64341	0.0:1.0:0.0:0.0	.	605	Q5JST6	EFHC2_HUMAN	L	18;605;633	ENSP00000333823:R605L;ENSP00000404232:R633L	ENSP00000333823:R605L	R	-	2	0	EFHC2	43922692	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	4.402000	0.59722	2.464000	0.83262	0.594000	0.82650	CGT		0.373	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		A	44037748	C	A	44037748	3	1	93	1	0	0	0	0	1	0	0	0	4947	536	19	5	451	5	EFHC2	23	44037748	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	8051908	44037748	111232812	62	6233											
ZNF674	641339	broad.mit.edu	37	chrX	46388335	46388335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacacgtccttgaaggTcaatgattcctgtaacggca	13	9	8	11	2	1	2	1	2	0	0	3	2	3	2	2	2	2	2	2	2	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:46388335T>C	ENST00000523374.1	-	4	235	c.25A>G	c.(25-27)Acc>Gcc	p.T9A	ZNF674_ENST00000414387.2_Missense_Mutation_p.T9A	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TCCTTGAAGGTCAATGATTCC	0.552																																						uc004dgr.3																			0				breast(2)	2						c.(25-27)Acc>Gcc		Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.							181	131	148					X																	46388335		2203	4300	6503	SO:0001583	missense	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46388335T>C	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"Zinc fingers, C2H2-type", "-"	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.25A>G	X.37:g.46388335T>C	ENSP00000429148:p.Thr9Ala					ZNF674_uc011mlg.2_Missense_Mutation_p.T9A|ZNF674_uc022bvl.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A	p.T9A	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN			3	252	-			9			KRAB.		B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	c.25A>G	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211371	0.39102	.	.	ENSG00000251192	ENST00000523374;ENST00000414387;ENST00000518708	T;T;T	0.02812	4.15;4.15;4.15	2.14	2.14	0.27477	Krueppel-associated box (4);	.	.	.	.	T	0.04543	0.0124	M	0.72576	2.205	0.09310	N	1	B;B;B	0.25235	0.121;0.025;0.004	B;B;B	0.18561	0.022;0.01;0.01	T	0.23332	-1.0191	9	0.52906	T	0.07	.	7.555	0.27819	0.0:0.0:0.0:1.0	.	9;9;9	E9PHQ4;E5RHV3;Q2M3X9	.;.;ZN674_HUMAN	A	9	ENSP00000429148:T9A;ENSP00000428248:T9A;ENSP00000429646:T9A	ENSP00000428248:T9A	T	-	1	0	ZNF674	46273279	0.003000	0.15002	0.024000	0.17045	0.530000	0.34684	0.468000	0.22051	1.105000	0.41606	0.373000	0.22412	ACC		0.552	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891		C	46388335	T	C	46388335	3	2	93	1	0	0	0	0	1	0	0	0	18078	1667	58	4	1732	4	ZNF674	23	46388335	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	2350587	46388335	108882225	63	6234											
CCDC120	90060	broad.mit.edu	37	chrX	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggtgaagtcagagcGtctgcgggggctgcttgacc	6	7	15	13	2	2	3	1	2	1	1	2	3	2	3	3	3	3	2	3	3	1	1	rs147084360		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:48920041G>A	ENST00000376396.3	+	4	311	c.92G>A	c.(91-93)cGt>cAt	p.R31H	CCDC120_ENST00000597275.1_Missense_Mutation_p.R31H|CCDC120_ENST00000496529.2_Missense_Mutation_p.R31H|CCDC120_ENST00000422185.2_Missense_Mutation_p.R31H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R66H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R19H	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	31										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AAGTCAGAGCGTCTGCGGGGG	0.647																																						uc011mmr.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(91-93)cGt>cAt		Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	27	27	27		92,56,56,92	5.6	1	X	dbSNP_134	27	2,6725		0,2,2426,1871	yes	missense,missense,missense,missense	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	29,29,29,29	0,2,4058,2442	AA,AG,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging	31/662,19/650,19/619,31/631	48920041	2,10560	2203	4299	6502	SO:0001583	missense	90060						protein binding	g.chrX:48920041G>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.92G>A	X.37:g.48920041G>A	ENSP00000365577:p.Arg31His					CCDC120_uc010nik.3_Missense_Mutation_p.R31H|CCDC120_uc011mmq.2_Missense_Mutation_p.R19H|CCDC120_uc004dmf.3_Missense_Mutation_p.R31H|CCDC120_uc010nil.3_Missense_Mutation_p.R31H|CCDC120_uc011mms.2_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	p.R31H	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN			3	384	+			31					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.92G>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433266	0.83776	0.0	2.97E-4	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000017	T	0.65417	0.2689	L	0.33245	0.995	0.36797	D	0.885164	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.70745	-0.4788	9	0.49607	T	0.09	-4.0291	13.1355	0.59407	0.0:0.1567:0.8433:0.0	.	19;66;19;31	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	H	31;31;19	.	ENSP00000365577:R31H	R	+	2	0	CCDC120	48806985	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.137000	0.58010	2.374000	0.81015	0.529000	0.55759	CGT		0.647	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		A	48920041	G	A	48920041	3	1	93	1	0	0	0	0	1	0	0	0	2756	1145	40	1	98	1	CCDC120	23	48920041	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	2531706	48920041	106350519	64	6235											
LAS1L	81887	broad.mit.edu	37	chrX	64737941	64737941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctagcattctcggcagtgGgggactcttgccctgtagag	6	10	14	11	1	2	1	0	0	2	1	3	2	2	2	2	3	2	3	2	3	2	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:64737941G>T	ENST00000374811.3	-	12	1893	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	LAS1L_ENST00000374807.5_Missense_Mutation_p.P601H|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Missense_Mutation_p.P559H	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	618					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCGGCAGTGGGGGACTCTTG	0.517																																						uc004dwa.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1852-1854)cCc>cAc		Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.							133	108	116					X																	64737941		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64737941G>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1853C>A	X.37:g.64737941G>T	ENSP00000363944:p.Pro618His					LAS1L_uc004dwc.2_Missense_Mutation_p.P601H|LAS1L_uc004dwd.2_Missense_Mutation_p.P559H|LAS1L_uc004dvz.2_Missense_Mutation_p.P131H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H	p.P618H	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			11	1944	-			618					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1853C>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	5.848	0.340652	0.11069	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.77	0.997	0.19851	.	1.168760	0.06296	N	0.700014	T	0.36082	0.0954	L	0.44542	1.39	0.09310	N	1	P;P;P;D	0.61697	0.815;0.948;0.718;0.99	P;P;B;P	0.50490	0.564;0.54;0.361;0.642	T	0.26326	-1.0106	9	0.15499	T	0.54	.	7.0453	0.25042	0.0:0.3155:0.4607:0.2238	.	559;601;618;131	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	H	601;618;559	.	ENSP00000363937:P559H	P	-	2	0	LAS1L	64654666	0.000000	0.05858	0.002000	0.10522	0.774000	0.43823	-0.307000	0.08167	0.108000	0.17862	0.600000	0.82982	CCC		0.517	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		T	64737941	G	T	64737941	3	4	93	1	0	0	0	0	1	0	0	0	8636	1232	43	5	363	5	LAS1L	23	64737941	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	15817900	64737941	90532619	65	6236											
STARD8	9754	broad.mit.edu	37	chrX	67943638	67943638	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggagctgtaccactatgtCaccgacagcatggcacccca	10	7	10	14	1	1	0	1	0	0	0	1	2	1	1	4	2	3	4	4	2	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:67943638C>G	ENST00000252336.6	+	12	3102	c.2730C>G	c.(2728-2730)gtC>gtG	p.V910V	STARD8_ENST00000374597.3_Silent_p.V910V|STARD8_ENST00000374599.3_Silent_p.V990V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	910	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCACTATGTCACCGACAGCA	0.652																																						uc004dxb.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(2968-2970)gtC>gtG		Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.							34	31	32					X																	67943638		2181	4254	6435	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67943638C>G	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2730C>G	X.37:g.67943638C>G						STARD8_uc004dxa.3_Silent_p.V910V|STARD8_uc004dxc.4_Silent_p.V910V	p.V990V	NM_001142503	NP_055540	Q92502	STAR8_HUMAN			12	3184	+			910			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.2970C>G	CCDS14390.1																																																																																				0.652	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		G	67943638	C	G	67943638	2	3	93	1	0	0	0	0	0	0	0	1	15262	813	29	5		5	STARD8	23	67943638	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	3205697	67943638	87326922	66	6237											
ZMYM3	9203	broad.mit.edu	37	chrX	70469372	70469372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttggccctcgtggaagAggagctcagggccaggactc	7	9	15	10	1	1	1	1	0	0	1	3	4	1	4	2	5	1	2	2	5	1	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:70469372A>G	ENST00000353904.2	-	7	1596	c.1409T>C	c.(1408-1410)cTc>cCc	p.L470P	ZMYM3_ENST00000373998.1_Missense_Mutation_p.L470P|ZMYM3_ENST00000373982.1_Missense_Mutation_p.L472P|ZMYM3_ENST00000373984.3_Missense_Mutation_p.L472P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.L470P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.L472P|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.L470P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGTGGAAGAGGAGCTCAGG	0.562																																						uc004dzh.2																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1408-1410)cTc>cCc		Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.							107	76	87					X																	70469372		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469372A>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1409T>C	X.37:g.70469372A>G	ENSP00000343909:p.Leu470Pro					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.2_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.2_Missense_Mutation_p.L201P|ZMYM3_uc004dzl.4_Missense_Mutation_p.L470P	p.L470P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			6	1588	-	Renal(35;0.156)		470					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.1409T>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	a	15.93	2.979007	0.53827	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.58358	0.93;0.34;0.93;0.93;0.93;0.43;0.43	4.75	4.75	0.60458	TRASH (1);Zinc finger, MYM-type (1);	0.219310	0.30850	N	0.008758	T	0.68869	0.3048	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.977;0.981	D;D;P;D	0.64877	0.93;0.93;0.867;0.918	T	0.73404	-0.3993	10	0.87932	D	0	-12.5377	13.5176	0.61549	1.0:0.0:0.0:0.0	.	472;470;470;470	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	P	470;470;470;472;472;472;470	ENSP00000322845:L470P;ENSP00000363110:L470P;ENSP00000343909:L470P;ENSP00000363096:L472P;ENSP00000363100:L472P;ENSP00000363094:L472P;ENSP00000363093:L470P	ENSP00000322845:L470P	L	-	2	0	ZMYM3	70386097	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.756000	0.74919	1.765000	0.52091	0.378000	0.23410	CTC		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		G	70469372	A	G	70469372	3	3	93	1	0	0	0	0	1	0	0	0	17698	304	11	4	2797	4	ZMYM3	23	70469372	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	2525734	70469372	84801188	67	6238											
ATRX	546	broad.mit.edu	37	chrX	76778818	76778818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtccaaaagagaatcaTgttcatggtatcctacaatg	13	12	9	7	0	2	1	2	0	0	1	4	2	4	1	2	2	1	2	2	2	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:76778818T>C	ENST00000373344.5	-	31	6975	c.6761A>G	c.(6760-6762)cAt>cGt	p.H2254R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H2216R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2254	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.H2254R(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGAGAATCATGTTCATGGTA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Substitution - Missense(1)	p.H2254R(2)	central_nervous_system(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6760-6762)cAt>cGt		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						232	194	207					X																	76778818		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778818T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6761A>G	X.37:g.76778818T>C	ENSP00000362441:p.His2254Arg					ATRX_uc004ecq.4_Missense_Mutation_p.H2216R|ATRX_uc004eco.4_Missense_Mutation_p.H2039R	p.H2254R	NM_000489	NP_000480	P46100	ATRX_HUMAN			30	6993	-			2254					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6761A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456434	0.43634	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95412	-3.7;-3.7	5.35	5.35	0.76521	.	0.000000	0.85682	U	0.000000	D	0.97455	0.9167	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.98141	1.0436	10	0.87932	D	0	-10.035	14.4136	0.67135	0.0:0.0:0.0:1.0	.	2216;2254	P46100-4;P46100	.;ATRX_HUMAN	R	2254;2216	ENSP00000362441:H2254R;ENSP00000378967:H2216R	ENSP00000362441:H2254R	H	-	2	0	ATRX	76665474	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.694000	0.84235	1.784000	0.52394	0.437000	0.28790	CAT		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76778818	T	C	76778818	3	2	93	1	0	0	0	0	1	0	0	0	1208	1464	51	4	737	4	ATRX	23	76778818	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	6309446	76778818	78491742	68	6239											
HDX	139324	broad.mit.edu	37	chrX	83724095	83724095	+	Frame_Shift_Del	DEL	C	C	-																															ggtcggtggcacacagaaggCttttgaggtactgtcatttc																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:83724095delC	ENST00000297977.5	-	3	747	c.636delG	c.(634-636)aagfs	p.K212fs	HDX_ENST00000506585.2_Frame_Shift_Del_p.K154fs|HDX_ENST00000373177.2_Frame_Shift_Del_p.K212fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	212						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACACAGAAGGCTTTTGAGGTA	0.418																																					Pancreas(53;231 1169 36156 43751 51139)	uc011mqv.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(634-636)aagfs		Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.							156	137	144					X																	83724095		2203	4300	6503	SO:0001589	frameshift_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724095delC	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.636delG	X.37:g.83724095delC	ENSP00000297977:p.Lys212fs					HDX_uc004eel.2_Frame_Shift_Del_p.K154fs|HDX_uc004eek.2_Frame_Shift_Del_p.K212fs	p.K212fs	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN			3	883	-			212					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Frame_Shift_Del	DEL	ENST00000297977.5	37	c.636delG	CCDS35342.1																																																																																				0.418	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		-	83724095	C	-	83724095	7	5	93	1	0	1	0	1	0	0	0	0	7026	796	28	0	1468	0	HDX	23	83724095	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08	6945277	83724095	71546465	69	6240											
COL4A5	1287	broad.mit.edu	37	chrX	107840792	107840792	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcctggcccgaaaggAgagcctgtgagttggtttga	7	10	16	8	1	0	3	0	2	0	1	1	5	1	3	3	4	1	3	3	4	1	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:107840792A>G	ENST00000361603.2	+	24	2017	c.1773A>G	c.(1771-1773)ggA>ggG	p.G591G	COL4A5_ENST00000328300.6_Silent_p.G591G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	591	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCCGAAAGGAGAGCCTGTGA	0.463									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1771-1773)ggA>ggG		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							44	36	39					X																	107840792		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107840792A>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1773A>G	X.37:g.107840792A>G						COL4A5_uc004enz.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	p.G591G	NM_033380	NP_203699	P29400	CO4A5_HUMAN			23	1975	+			591			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1773A>G	CCDS14543.1																																																																																				0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			G	107840792	A	G	107840792	2	3	93	1	0	0	0	0	0	0	0	1	3694	291	11	4		4	COL4A5	23	107840792	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	24116697	107840792	47429768	70	6241											
GUCY2F	2986	broad.mit.edu	37	chrX	108708484	108708484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaacactgcatcataggCttcccggagctttgggttgt	7	12	12	10	1	2	0	2	0	0	0	3	1	3	1	1	4	3	4	1	4	2	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:108708484C>T	ENST00000218006.2	-	3	1210	c.919G>A	c.(919-921)Gcc>Acc	p.A307T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	307					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAGGCTTCCCGGAGC	0.488																																						uc022cch.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(919-921)Gcc>Acc		Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.							147	126	133					X																	108708484		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708484C>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.919G>A	X.37:g.108708484C>T	ENSP00000218006:p.Ala307Thr					GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.A307T	p.A307T	NM_001522	NP_001513	P51841	GUC2F_HUMAN			1	1004	-			307					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.919G>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596655	0.86953	.	.	ENSG00000101890	ENST00000218006	T	0.79845	-1.31	3.94	3.94	0.45596	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	M	0.81802	2.56	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.90057	0.4153	10	0.66056	D	0.02	.	12.899	0.58115	0.0:1.0:0.0:0.0	.	307	P51841	GUC2F_HUMAN	T	307	ENSP00000218006:A307T	ENSP00000218006:A307T	A	-	1	0	GUCY2F	108595140	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.117000	0.77129	2.201000	0.70794	0.600000	0.82982	GCC		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		T	108708484	C	T	108708484	3	4	93	1	0	0	0	0	1	0	0	0	6898	797	28	3	2475	3	GUCY2F	23	108708484	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	867692	108708484	46562076	71	6242											
GPR153	387509	broad.mit.edu	37	chr1	6311445	6311445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccatgcacttctccCggacagctttgaggtcagcc	7	9	12	13	1	2	2	1	2	1	0	3	3	2	3	3	3	3	2	3	3	0	2	rs139457263	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:6311445C>T	ENST00000377893.2	-	4	1191	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCACTTCTCCCGGACAGCTTT	0.637													C|||	2	0.000399361	0.0015	0	5008	,	,		18170	0		0	False		,,,				2504	0					uc001amp.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(931-933)cGg>cAg		Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	81	80	80		932	4.6	1	1	dbSNP_134	80	0,8600		0,0,4300	no	missense	GPR153	NM_207370.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	311/610	6311445	2,13004	2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6311445C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.932G>A	1.37:g.6311445C>T	ENSP00000367125:p.Arg311Gln						p.R311Q	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	1192	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	311					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.932G>A	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609638	0.87258	4.54E-4	0.0	ENSG00000158292	ENST00000377893	T	0.21932	1.98	5.47	4.55	0.56014	.	0.116828	0.64402	D	0.000006	T	0.11707	0.0285	N	0.08118	0	0.29855	N	0.828097	P	0.44946	0.846	B	0.38020	0.263	T	0.02617	-1.1133	10	0.72032	D	0.01	-16.7908	14.2784	0.66196	0.1502:0.8498:0.0:0.0	.	311	Q6NV75	GP153_HUMAN	Q	311	ENSP00000367125:R311Q	ENSP00000367125:R311Q	R	-	2	0	GPR153	6234032	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	1.285000	0.44548	0.655000	0.94253	CGG		0.637	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			T	6311445	C	T	6311445	3	4	94	1	0	0	0	0	1	0	0	0	6659	652	23	2	909	2	GPR153	1	6311445	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		6311445	242939176	1	6243											
DMBX1	127343	broad.mit.edu	37	chr1	46976764	46976764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgagcagcccccacGtctgcctggcagcgaccccc	7	4	11	19	2	1	1	0	1	1	0	1	3	1	2	5	2	4	2	5	2	0	0			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:46976764G>A	ENST00000360032.3	+	3	505	c.491G>A	c.(490-492)cGt>cAt	p.R164H	DMBX1_ENST00000371956.4_Missense_Mutation_p.R169H	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.R169H(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGCCCCCACGTCTGCCTGGC	0.652																																						uc001cpx.3																			1	Substitution - Missense(1)	p.R169H(2)	endometrium(1)	endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(505-507)cGt>cAt		Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.							54	65	61					1																	46976764		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976764G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.491G>A	1.37:g.46976764G>A	ENSP00000353132:p.Arg164His					DMBX1_uc001cpw.3_Missense_Mutation_p.R164H	p.R169H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			2	521	+	Acute lymphoblastic leukemia(166;0.155)		169						Missense_Mutation	SNP	ENST00000360032.3	37	c.506G>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	0.332	-0.955817	0.02267	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93366	-3.14;-3.21	4.84	1.59	0.23543	.	1.221350	0.05308	N	0.524244	D	0.84737	0.5538	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.021;0.035	B;B	0.06405	0.001;0.002	T	0.69971	-0.5000	10	0.14656	T	0.56	.	10.2854	0.43564	0.1572:0.1239:0.7189:0.0	.	169;164	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	H	169;164	ENSP00000361024:R169H;ENSP00000353132:R164H	ENSP00000353132:R164H	R	+	2	0	DMBX1	46749351	0.281000	0.24258	0.001000	0.08648	0.004000	0.04260	1.542000	0.36137	0.137000	0.18759	-1.094000	0.02160	CGT		0.652	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			A	46976764	G	A	46976764	3	1	94	1	0	0	0	0	1	0	0	0	4578	1145	40	1	516	1	DMBX1	1	46976764	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	40665319	46976764	202273857	2	6244											
TCHH	7062	broad.mit.edu	37	chr1	152081245	152081245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggaattttctgtcaCgctcttggcggtgcagctgc	5	12	11	13	2	3	0	1	0	2	0	4	1	4	1	2	3	3	3	2	3	1	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:152081245C>T	ENST00000368804.1	-	2	4447	c.4448G>A	c.(4447-4449)cGt>cAt	p.R1483H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1483	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTCACGCTCTTGGCG	0.557																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4447-4449)cGt>cAt		Homo sapiens trichohyalin (TCHH), mRNA.							95	95	95					1																	152081245		1896	4105	6001	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081245C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4448G>A	1.37:g.152081245C>T	ENSP00000357794:p.Arg1483His					TCHH_uc001ezp.2_Missense_Mutation_p.R1483H	p.R1483H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4720	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1483			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4448G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	9.063	0.994920	0.19043	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	3.65	-0.382	0.12481	.	.	.	.	.	T	0.04092	0.0114	M	0.66939	2.045	0.09310	N	1	D	0.67145	0.996	P	0.51193	0.662	T	0.26121	-1.0112	9	0.54805	T	0.06	.	2.5587	0.04766	0.2223:0.3047:0.0:0.473	.	1483	Q07283	TRHY_HUMAN	H	1483	ENSP00000357794:R1483H	ENSP00000357794:R1483H	R	-	2	0	TCHH	150347869	0.003000	0.15002	0.002000	0.10522	0.060000	0.15804	-0.153000	0.10144	0.068000	0.16574	0.195000	0.17529	CGT		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081245	C	T	152081245	3	4	94	1	0	0	0	0	1	0	0	0	15697	536	19	1	1387	1	TCHH	1	152081245	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	105104481	152081245	97169376	3	6245											
F5	2153	broad.mit.edu	37	chr1	169509611	169509611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccattgttgctgcGgaggtaccatgctgcaatgt	6	15	11	9	1	1	0	0	0	1	0	2	1	2	1	2	2	5	6	2	2	2	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:169509611G>A	ENST00000367797.3	-	13	4918	c.4717C>T	c.(4717-4719)Cgc>Tgc	p.R1573C	F5_ENST00000367796.3_Missense_Mutation_p.R1578C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1573	B.	Cleavage; by thrombin.			blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTGTTGCTGCGGAGGTACCAT	0.398																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4717-4719)Cgc>Tgc		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						111	109	109					1																	169509611		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509611G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4717C>T	1.37:g.169509611G>A	ENSP00000356771:p.Arg1573Cys						p.R1573C	NM_000130	NP_000121	P12259	FA5_HUMAN			12	4862	-	all_hematologic(923;0.208)		1573			B.	Cleavage; by thrombin.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4717C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356431	0.82243	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.57752	0.38;0.38	5.55	5.55	0.83447	.	0.319926	0.35772	N	0.002996	T	0.74959	0.3785	M	0.88979	2.995	0.80722	D	1.000000	D	0.89917	1.0	D	0.79108	0.992	T	0.79713	-0.1688	9	0.87932	D	0	-15.4653	19.4923	0.95056	0.0:0.0:1.0:0.0	.	1573	P12259	FA5_HUMAN	C	1573;1578	ENSP00000356771:R1573C;ENSP00000356770:R1578C	ENSP00000356770:R1578C	R	-	1	0	F5	167776235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.108000	0.71522	2.615000	0.88500	0.591000	0.81541	CGC		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169509611	G	A	169509611	3	1	94	1	0	0	0	0	1	0	0	0	5348	1116	39	2	2009	2	F5	1	169509611	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	17428366	169509611	79741010	4	6246											
IPO9	55705	broad.mit.edu	37	chr1	201823997	201823997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaaagcacatggtgtcctCcatgcagcagattctgccta	10	9	8	14	0	1	1	0	0	1	1	3	1	3	1	4	1	4	3	4	1	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:201823997C>T	ENST00000361565.4	+	8	926	c.857C>T	c.(856-858)tCc>tTc	p.S286F		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	286					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGGTGTCCTCCATGCAGCAG	0.403																																						uc001gwz.3																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(856-858)tCc>tTc		Homo sapiens importin 9 (IPO9), mRNA.							145	141	142					1																	201823997		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201823997C>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.857C>T	1.37:g.201823997C>T	ENSP00000354742:p.Ser286Phe						p.S286F	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			7	907	+			286					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.857C>T	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828552	0.32329	.	.	ENSG00000198700	ENST00000361565	T	0.65178	-0.14	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	N	0.01352	-0.895	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31280	-0.9949	10	0.11182	T	0.66	-8.129	16.2171	0.82237	0.0:1.0:0.0:0.0	.	286	Q96P70	IPO9_HUMAN	F	286	ENSP00000354742:S286F	ENSP00000354742:S286F	S	+	2	0	IPO9	200090620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.491000	0.84063	0.563000	0.77884	TCC		0.403	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		T	201823997	C	T	201823997	3	4	94	1	0	0	0	0	1	0	0	0	7799	855	30	3	887	3	IPO9	1	201823997	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	32314386	201823997	47426624	5	6247											
ABCG5	64240	broad.mit.edu	37	chr2	44065792	44065792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagacccatggaccctccGggggtcaaagatgagaggtc	10	6	15	10	1	1	3	1	1	0	3	3	6	2	4	3	5	0	0	3	5	1	0	rs72542428	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:44065792G>A	ENST00000260645.1	-	1	166	c.27C>T	c.(25-27)ccC>ccT	p.P9P	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR|ABCG8_ENST00000272286.2_5'Flank	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	9					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGACCCTCCGGGGGTCAAAG	0.637													G|||	11	0.00219649	0	0.0014	5008	,	,		16365	0.0089		0	False		,,,				2504	0.001					uc002rtn.3																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(25-27)ccC>ccT		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.							18	22	21					2																	44065792		2202	4300	6502	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44065792G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.27C>T	2.37:g.44065792G>A						ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	p.P9P	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			0	167	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	9					Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.27C>T	CCDS1814.1																																																																																				0.637	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		A	44065792	G	A	44065792	2	1	94	1	0	0	0	0	0	0	0	1	71	1103	39	2		2	ABCG5	2	44065792	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		44065792	199133581	6	6248											
SPTBN1	6711	broad.mit.edu	37	chr2	54856719	54856719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccaggagcatgccgaGtctccagacgtgaggggcag	8	5	14	14	2	1	2	0	1	1	1	3	4	2	3	4	3	2	2	4	3	0	0			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54856719G>A	ENST00000356805.4	+	14	2729	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	SPTBN1_ENST00000333896.5_Silent_p.E803E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	816					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCATGCCGAGTCTCCAGACG	0.627																																						uc002rxu.3																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2446-2448)gaG>gaA		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							55	55	55					2																	54856719		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856719G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2448G>A	2.37:g.54856719G>A						SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.3_Silent_p.E803E	p.E816E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2697	+			816					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2448G>A	CCDS33198.1																																																																																				0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54856719	G	A	54856719	2	1	94	1	0	0	0	0	0	0	0	1	15118	1020	36	3		3	SPTBN1	2	54856719	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	10790927	54856719	188342654	7	6249											
GTDC1	79712	broad.mit.edu	37	chr2	144899603	144899603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attaaaaactgagttgaataCaaccacatcagccaccaggc	17	7	6	11	0	1	2	1	2	0	0	1	2	1	2	3	1	4	1	3	1	6	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:144899603C>T	ENST00000392869.2	-	5	519	c.367G>A	c.(367-369)Gta>Ata	p.V123I	GTDC1_ENST00000344850.4_Missense_Mutation_p.V123I|GTDC1_ENST00000392867.3_Missense_Mutation_p.V123I|GTDC1_ENST00000241391.5_Missense_Mutation_p.V123I|GTDC1_ENST00000409298.1_Missense_Mutation_p.V123I|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000542155.1_Missense_Mutation_p.V123I|GTDC1_ENST00000409214.1_Missense_Mutation_p.V123I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	123					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAGTTGAATACAACCACATCA	0.383																																						uc002tvp.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(367-369)Gta>Ata		Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.							45	47	46					2																	144899603		2203	4299	6502	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144899603C>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.367G>A	2.37:g.144899603C>T	ENSP00000376608:p.Val123Ile					GTDC1_uc002tvo.3_Missense_Mutation_p.V123I|GTDC1_uc021vqf.1_Missense_Mutation_p.V123I|GTDC1_uc010fnn.3_Missense_Mutation_p.V123I|GTDC1_uc002tvs.3_Missense_Mutation_p.V91I|GTDC1_uc021vqg.1_Missense_Mutation_p.V123I|GTDC1_uc002tvr.3_Missense_Mutation_p.V123I|GTDC1_uc010fno.3_5'UTR|GTDC1_uc002tvt.2_Missense_Mutation_p.V123I	p.V123I	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	646	-			123					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.367G>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971965	0.92919	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114	T;T;T;T;T;T;T;T	0.76316	0.86;0.86;0.86;-1.01;0.86;0.86;0.86;0.86	6.01	6.01	0.97437	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	L	0.51914	1.62	0.80722	D	1	D;P;P;D;P	0.76494	0.999;0.849;0.479;0.999;0.947	D;B;P;D;P	0.85130	0.994;0.425;0.462;0.997;0.58	T	0.82961	-0.0197	10	0.36615	T	0.2	-12.055	20.5141	0.99211	0.0:1.0:0.0:0.0	.	123;123;123;123;123	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	I	123	ENSP00000376608:V123I;ENSP00000386581:V123I;ENSP00000376606:V123I;ENSP00000386691:V123I;ENSP00000438323:V123I;ENSP00000241391:V123I;ENSP00000339750:V123I;ENSP00000403869:V123I	ENSP00000241391:V123I	V	-	1	0	GTDC1	144616073	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.703000	0.84585	2.850000	0.98022	0.655000	0.94253	GTA		0.383	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		T	144899603	C	T	144899603	3	4	94	1	0	0	0	0	1	0	0	0	6851	478	17	3	1037	3	GTDC1	2	144899603	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	90042884	144899603	98299770	8	6250											
GALNT3	2591	broad.mit.edu	37	chr2	166627133	166627133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actattataaagaaaaaaatTactgcaccaagcttccagaa	20	9	4	8	0	0	2	0	0	0	2	1	2	1	2	2	0	3	2	2	0	10	5			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:166627133T>C	ENST00000392701.3	-	2	853	c.78A>G	c.(76-78)gtA>gtG	p.V26V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	26					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGAAAAAAATTACTGCACCAA	0.313																																						uc010fph.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(76-78)gtA>gtG		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.							36	43	41					2																	166627133		2182	4289	6471	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166627133T>C		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.78A>G	2.37:g.166627133T>C						GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	p.V26V	NM_004482	NP_004473	Q14435	GALT3_HUMAN			1	465	-			26					Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.78A>G	CCDS2226.1																																																																																				0.313	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		C	166627133	T	C	166627133	2	2	94	1	0	0	0	0	0	0	0	1	6214	1741	61	4		4	GALNT3	2	166627133	Silent	SNP	T	TCGA-06-5418-01A-01D-1486-08	21727530	166627133	76572240	9	6251											
TLK1	9874	broad.mit.edu	37	chr2	171902709	171902710	+	Frame_Shift_Ins	INS	-	-	GG																															ggtaaatttggtctaacaaaINSgggatcattctctgctccat																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:171902709_171902710insGG	ENST00000431350.2	-	11	1547_1548	c.1143_1144insCC	c.(1141-1146)ccctttfs	p.F382fs	TLK1_ENST00000434911.2_Frame_Shift_Ins_p.F286fs|TLK1_ENST00000360843.3_Frame_Shift_Ins_p.F403fs|TLK1_ENST00000442919.2_Frame_Shift_Ins_p.F334fs|TLK1_ENST00000521943.1_Frame_Shift_Ins_p.F334fs			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	382					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGTCTAACAAAGGGATCATTCT	0.366																																						uc002ugo.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1204-1209)ccctttfs		Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171902709_171902710insGG	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1142_1143dupCC	2.37:g.171902710_171902711dupGG	ENSP00000411099:p.Phe382fs					TLK1_uc002ugn.2_Frame_Shift_Ins_p.P381fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	p.P402fs	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN			11	1678_1679	-			381					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Frame_Shift_Ins	INS	ENST00000431350.2	37	c.1206_1207insCC	CCDS2241.1																																																																																				0.366	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		GG	171902710	-	GG	171902709	7	5	94	1	0	1	1	0	0	0	0	0	15940	72	3	0	1200	0	TLK1	2	171902709	Frame_Shift_Ins	INS	-	TCGA-06-5418-01A-01D-1486-08	5275576	171902709	71296664	10	6252											
CAMK1	8536	broad.mit.edu	37	chr3	9799491	9799491	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcccagctgcagttTcctcatgtgccgcaccacag	6	9	11	15	1	1	0	1	0	0	0	2	0	2	0	4	1	4	5	4	1	0	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:9799491T>A	ENST00000256460.3	-	11	1129	c.952A>T	c.(952-954)Aaa>Taa	p.K318*	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	318					cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGCTGCAGTTTCCTCATGTGC	0.612																																						uc003bst.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(952-954)Aaa>Taa		Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.							51	52	52					3																	9799491		2203	4300	6503	SO:0001587	stop_gained	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9799491T>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.952A>T	3.37:g.9799491T>A	ENSP00000256460:p.Lys318*					OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.K92*|AX748417_uc003bsv.1_5'Flank	p.K318*	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	10	1137	-	Medulloblastoma(99;0.227)		318					Q3KPF6	Nonsense_Mutation	SNP	ENST00000256460.3	37	c.952A>T	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.546146|4.546146	0.86022|0.86022	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000421120|ENST00000256460	.|.	.|.	.|.	5.37|5.37	2.79|2.79	0.32731|0.32731	.|.	.|0.170627	.|0.48286	.|D	.|0.000192	T|.	0.26195|.	0.0639|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34030|.	-0.9845|.	3|.	.|0.02654	.|T	.|1	-12.3086|-12.3086	11.5016|11.5016	0.50441|0.50441	0.0:0.0:0.286:0.714|0.0:0.0:0.286:0.714	.|.	.|.	.|.	.|.	V|X	164|318	.|.	.|ENSP00000256460:K318X	E|K	-|-	2|1	0|0	CAMK1|CAMK1	9774491|9774491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	1.328000|1.328000	0.33758|0.33758	0.277000|0.277000	0.22141|0.22141	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.612	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		A	9799491	T	A	9799491	4	1	94	1	0	0	0	0	0	1	0	0	2596	1792	62	5	168	5	CAMK1	3	9799491	Nonsense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08		9799491	188222939	11	6253											
VHL	7428	broad.mit.edu	37	chr3	10183867	10183867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgccgcatccacagctaCcgaggtacgggcccggcgct	6	4	14	17	6	0	0	0	0	0	0	1	1	1	0	5	4	3	4	5	4	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:10183867C>T	ENST00000256474.2	+	1	1176	c.336C>T	c.(334-336)taC>taT	p.Y112Y	VHL_ENST00000345392.2_Silent_p.Y112Y|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD). {ECO:0000269|PubMed:10533030}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Y112*(2)|p.Y112fs*1(2)|p.?(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.R113fs*46(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCACAGCTACCGAGGTACGG	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													uc003bvc.3		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		9	Deletion - Frameshift(4)|Substitution - Nonsense(2)|Deletion - In frame(2)|Unknown(1)	p.S111N(5)|p.Y112*(4)|p.Y112fs*1(4)|p.S111R(3)|p.S111S(2)|p.S111fs*48(2)|p.I109_R113del(2)|p.S111fs*45(2)|p.S111G(2)|p.S111I(2)|p.S111_Y112del(2)|p.S111fs*49(1)|p.?(1)|p.Y112D(1)|p.S111fs*22(1)|p.R113fs*46(1)|p.H110_S111del(1)|p.Y112fs*47(1)	kidney(9)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM951282	VHL	M		c.(334-336)taC>taT		Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.							10	11	11					3																	10183867		1837	3816	5653	SO:0001819	synonymous_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183867C>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.336C>T	3.37:g.10183867C>T						VHL_uc003bvd.3_Silent_p.Y112Y	p.Y112Y	NM_000551	NP_000542	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	0	549	+			112		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	c.336C>T	CCDS2597.1																																																																																				0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183867	C	T	10183867	2	4	94	1	0	0	0	0	0	0	0	1	17159	518	18	3		3	VHL	3	10183867	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	384376	10183867	187838563	12	6254											
OR5K1	26339	broad.mit.edu	37	chr3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggttagttttctgtggatCgaatcacatcaaccactttt	10	16	7	8	1	3	0	2	0	1	0	4	2	3	1	1	2	1	2	1	2	4	6	rs199803370		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:98188932C>T	ENST00000332650.5	+	1	609	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398																																						uc003dsm.3																			1	Substitution - Missense(1)	p.S171L(2)|p.G170A(1)|p.S171T(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(511-513)tCg>tTg		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	249	250	250		512	4.5	0	3		250	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5K1	NM_001004736.2	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	171/309	98188932	2,13004	2203	4300	6503	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188932C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.512C>T	3.37:g.98188932C>T	ENSP00000373193:p.Ser171Leu						p.S171L	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	512	+			171					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.512C>T	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904258	0.33628	2.27E-4	1.16E-4	ENSG00000232382	ENST00000332650	T	0.38560	1.13	5.33	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.174299	0.27725	N	0.018113	T	0.58090	0.2098	M	0.78801	2.425	0.09310	N	1	D	0.56287	0.975	P	0.56612	0.802	T	0.55302	-0.8162	10	0.66056	D	0.02	-13.0723	11.7681	0.51943	0.0:0.9138:0.0:0.0862	.	171	Q8NHB7	OR5K1_HUMAN	L	171	ENSP00000373193:S171L	ENSP00000373193:S171L	S	+	2	0	OR5K1	99671622	0.000000	0.05858	0.043000	0.18650	0.066000	0.16364	0.199000	0.17237	1.247000	0.43917	-0.253000	0.11424	TCG		0.398	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			T	98188932	C	T	98188932	3	4	94	1	0	0	0	0	1	0	0	0	11166	893	31	2	514	2	OR5K1	3	98188932	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	88005065	98188932	99833498	13	6255											
FSTL1	11167	broad.mit.edu	37	chr3	120123732	120123732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctcctggtctggataCgttgtaatattgatggcagt	7	17	11	6	1	2	1	0	1	2	0	3	2	2	2	1	3	1	4	1	3	3	7	rs138829728		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:120123732C>T	ENST00000295633.3	-	7	905	c.549G>A	c.(547-549)acG>acA	p.T183T	FSTL1_ENST00000424703.2_Silent_p.T148T	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	183					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGTCTGGATACGTTGTAATAT	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		21402	0		0	False		,,,				2504	0					uc003eds.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(547-549)acG>acA		Homo sapiens follistatin-like 1 (FSTL1), mRNA.							264	244	251					3																	120123732		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120123732C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.549G>A	3.37:g.120123732C>T						FSTL1_uc011bjh.2_Silent_p.T148T	p.T183T	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	6	724	-			183					A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.549G>A	CCDS2998.1																																																																																				0.448	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		T	120123732	C	T	120123732	2	4	94	1	0	0	0	0	0	0	0	1	6077	523	19	1		1	FSTL1	3	120123732	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	21934800	120123732	77898698	14	6256											
IGSF10	285313	broad.mit.edu	37	chr3	151166049	151166049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccattttcctgataggcttCgaccaaaggttctaccacag	10	11	7	13	1	1	1	0	1	1	0	3	2	2	1	4	2	1	2	4	2	3	6	rs116716539	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:151166049C>T	ENST00000282466.3	-	4	1719	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	574	Ig-like C2-type 2.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATAGGCTTCGACCAAAGGT	0.413													C|||	4	0.000798722	0	0	5008	,	,		22318	0		0.004	False		,,,				2504	0					uc011bod.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1720-1722)Gaa>Aaa		Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	113	106	108		1720	3.4	0	3	dbSNP_132	108	10,8590	7.7+/-29.5	0,10,4290	yes	missense	IGSF10	NM_178822.4	56	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	possibly-damaging	574/2624	151166049	12,12994	2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166049C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1720G>A	3.37:g.151166049C>T	ENSP00000282466:p.Glu574Lys						p.E574K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1720	-			574			Ig-like C2-type 2.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1720G>A	CCDS3160.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	9.847	1.192714	0.21954	4.54E-4	0.001163	ENSG00000152580	ENST00000282466	T	0.69561	-0.41	5.17	3.36	0.38483	Immunoglobulin-like (1);	0.148155	0.30999	N	0.008453	T	0.48978	0.1530	M	0.63843	1.955	0.09310	N	0.999999	P	0.52316	0.952	B	0.41174	0.349	T	0.49844	-0.8896	10	0.09084	T	0.74	.	10.3066	0.43685	0.0:0.79:0.1364:0.0736	.	574	Q6WRI0	IGS10_HUMAN	K	574	ENSP00000282466:E574K	ENSP00000282466:E574K	E	-	1	0	IGSF10	152648739	0.388000	0.25197	0.001000	0.08648	0.098000	0.18820	4.671000	0.61590	0.564000	0.29238	0.650000	0.86243	GAA		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151166049	C	T	151166049	3	4	94	1	0	0	0	0	1	0	0	0	7597	893	31	2	6211	2	IGSF10	3	151166049	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	31042317	151166049	46856381	15	6257											
TMEM156	80008	broad.mit.edu	37	chr4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtcctggtgaagttacGaaaattggagggatttagaa	14	10	13	4	1	0	2	0	1	0	1	1	5	1	4	1	3	1	2	1	3	7	4	rs13118782		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:39000377G>A	ENST00000381938.3	-	2	348	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	81						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368																																						uc003gto.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(241-243)Cgt>Tgt		Homo sapiens transmembrane protein 156 (TMEM156), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	73	75		241	3.9	1	4	dbSNP_121	75	0,8600		0,0,4300	no	missense	TMEM156	NM_024943.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	81/297	39000377	1,13005	2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:39000377G>A	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.241C>T	4.37:g.39000377G>A	ENSP00000371364:p.Arg81Cys					TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN			1	349	-			81					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.241C>T	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965822	0.18583	2.27E-4	0.0	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.24908	1.83;1.83	4.73	3.87	0.44632	.	0.628966	0.15713	N	0.248325	T	0.13670	0.0331	N	0.08118	0	0.29143	N	0.878895	B	0.26400	0.148	B	0.16722	0.016	T	0.11108	-1.0601	10	0.87932	D	0	-1.3883	10.9337	0.47233	0.0:0.1896:0.8104:0.0	.	81	Q8N614	TM156_HUMAN	C	81	ENSP00000371364:R81C;ENSP00000343758:R81C	ENSP00000343758:R81C	R	-	1	0	TMEM156	38676772	1.000000	0.71417	0.971000	0.41717	0.055000	0.15305	1.721000	0.38032	1.306000	0.44926	0.609000	0.83330	CGT		0.368	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		A	39000377	G	A	39000377	3	1	94	1	0	0	0	0	1	0	0	0	16070	1058	37	2	669	2	TMEM156	4	39000377	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		39000377	152153899	16	6258											
UGT2B7	7364	broad.mit.edu	37	chr4	69973993	69973993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggacttcaacacaatgtcGagtacagacttgctgaatgc	12	10	10	9	1	1	2	1	1	0	1	2	4	1	3	0	1	4	2	0	1	4	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:69973993G>A	ENST00000305231.7	+	5	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	421					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACACAATGTCGAGTACAGACT	0.423																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1261-1263)tcG>tcA		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							217	206	210					4																	69973993		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973993G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1263G>A	4.37:g.69973993G>A						UGT2B7_uc010ihq.3_Intron	p.S421S	NM_001074	NP_001065	P16662	UD2B7_HUMAN			4	1309	+			421					B2R810|Q6GTW0	Silent	SNP	ENST00000305231.7	37	c.1263G>A	CCDS3526.1																																																																																				0.423	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		A	69973993	G	A	69973993	2	1	94	1	0	0	0	0	0	0	0	1	16959	1045	37	2		2	UGT2B7	4	69973993	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	30973616	69973993	121180283	17	6259											
TRPC3	7222	broad.mit.edu	37	chr4	122833104	122833104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccctgaagatctgtttggGatagtcagtaactgtgatat	11	13	10	7	0	2	3	1	2	1	1	2	4	2	4	1	1	1	2	1	1	4	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:122833104G>C	ENST00000379645.3	-	5	1559	c.1486C>G	c.(1486-1488)Ccc>Gcc	p.P496A	TRPC3_ENST00000264811.5_Missense_Mutation_p.P423A|TRPC3_ENST00000513531.1_Missense_Mutation_p.P368A	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	411					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATCTGTTTGGGATAGTCAGTA	0.423																																						uc003ieg.2																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1486-1488)Ccc>Gcc		Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.							126	124	125					4																	122833104		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122833104G>C	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1486C>G	4.37:g.122833104G>C	ENSP00000368966:p.Pro496Ala					TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	p.P496A	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			4	1560	-			411					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1486C>G	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988906	0.53934	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.69040	-0.37;-0.37;-0.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	L	0.41573	1.285	0.80722	D	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.15484	0.005;0.003;0.013	T	0.55860	-0.8074	10	0.06757	T	0.87	0.7219	19.6431	0.95764	0.0:0.0:1.0:0.0	.	411;368;496	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	A	423;496;368	ENSP00000264811:P423A;ENSP00000368966:P496A;ENSP00000426899:P368A	ENSP00000264811:P423A	P	-	1	0	TRPC3	123052554	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.673000	0.98631	2.647000	0.89833	0.561000	0.74099	CCC		0.423	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		C	122833104	G	C	122833104	3	2	94	1	0	0	0	0	1	0	0	0	16576	1174	41	5	1311	5	TRPC3	4	122833104	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	52859111	122833104	68321172	18	6260											
TBC1D9	23158	broad.mit.edu	37	chr4	141600954	141600954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttctccgtgtcatcaTcttcctttacatcattgatt	9	18	3	11	1	5	1	3	1	2	0	7	1	6	1	2	0	2	0	2	0	3	7			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:141600954T>A	ENST00000442267.2	-	4	478	c.404A>T	c.(403-405)gAt>gTt	p.D135V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	135							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTGTCATCATCTTCCTTTAC	0.368																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(403-405)gAt>gTt		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							87	82	83					4																	141600954		1857	4092	5949	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600954T>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.404A>T	4.37:g.141600954T>A	ENSP00000411197:p.Asp135Val						p.D135V	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			3	676	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	135					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.404A>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840593	0.71488	.	.	ENSG00000109436	ENST00000442267	T	0.09911	2.93	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.52364	1.645	0.80722	D	1	P	0.34934	0.476	B	0.36719	0.231	T	0.01524	-1.1333	10	0.72032	D	0.01	.	15.4549	0.75305	0.0:0.0:0.0:1.0	.	135	Q6ZT07	TBCD9_HUMAN	V	135	ENSP00000411197:D135V	ENSP00000411197:D135V	D	-	2	0	TBC1D9	141820404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.932000	0.87634	2.061000	0.61500	0.533000	0.62120	GAT		0.368	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		A	141600954	T	A	141600954	3	1	94	1	0	0	0	0	1	0	0	0	15624	1435	50	5	3468	5	TBC1D9	4	141600954	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08	18767850	141600954	49553322	19	6261											
TERT	7015	broad.mit.edu	37	chr5	1260707	1260707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggctctgatggaggtcCgggcatagctgagacacagg	9	7	16	9	1	1	2	0	2	1	1	2	5	2	3	1	5	1	3	1	5	1	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:1260707C>T	ENST00000310581.5	-	12	2909	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.R888Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	951	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GATGGAGGTCCGGGCATAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2851-2853)cGg>cAg		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							74	82	80					5																	1260707		2107	4216	6323	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1260707C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2852G>A	5.37:g.1260707C>T	ENSP00000309572:p.Arg951Gln					TERT_uc003jbz.1_Missense_Mutation_p.R147Q|TERT_uc003jcc.1_Missense_Mutation_p.R888Q|TERT_uc003jca.1_Missense_Mutation_p.R939Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.R103Q	p.R951Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2910	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		951			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2852G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	5.019	0.189184	0.09547	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	T;T	0.69306	-0.39;-0.39	4.53	-1.29	0.09288	.	0.951047	0.08815	N	0.889616	T	0.46580	0.1400	L	0.27944	0.81	0.09310	N	1	B;B	0.26400	0.017;0.148	B;B	0.15870	0.014;0.011	T	0.20472	-1.0274	10	0.12103	T	0.63	-20.2545	9.529	0.39182	0.0:0.5857:0.0:0.4143	.	888;951	O14746-3;O14746	.;TERT_HUMAN	Q	951;888	ENSP00000309572:R951Q;ENSP00000334346:R888Q	ENSP00000309572:R951Q	R	-	2	0	TERT	1313707	0.000000	0.05858	0.004000	0.12327	0.801000	0.45260	-0.532000	0.06164	-0.758000	0.04690	0.561000	0.74099	CGG		0.602	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			T	1260707	C	T	1260707	3	4	94	1	0	0	0	0	1	0	0	0	15761	652	23	2	566	2	TERT	5	1260707	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		1260707	179654553	20	6262											
ZNF366	167465	broad.mit.edu	37	chr5	71752388	71752388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcagggtgaactccCgcccacaaatcccacactta	11	6	8	16	1	0	1	0	1	0	0	2	1	2	1	4	2	2	1	4	2	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:71752388C>T	ENST00000318442.5	-	3	1857	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	456	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGAACTCCCGCCCACAAAT	0.527																																						uc003kce.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1366-1368)cGg>cAg		Homo sapiens zinc finger protein 366 (ZNF366), mRNA.							233	200	211					5																	71752388		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752388C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1367G>A	5.37:g.71752388C>T	ENSP00000313158:p.Arg456Gln						p.R456Q	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1553	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	456					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1367G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802776	0.96960	.	.	ENSG00000178175	ENST00000318442	T	0.07567	3.18	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.102594	0.43919	D	0.000507	T	0.22399	0.0540	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00466	-1.1722	10	0.87932	D	0	-21.8618	19.8197	0.96589	0.0:1.0:0.0:0.0	.	456	Q8N895	ZN366_HUMAN	Q	456	ENSP00000313158:R456Q	ENSP00000313158:R456Q	R	-	2	0	ZNF366	71788144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.697000	0.92050	0.585000	0.79938	CGG		0.527	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71752388	C	T	71752388	3	4	94	1	0	0	0	0	1	0	0	0	17867	652	23	2	879	2	ZNF366	5	71752388	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	70491681	71752388	109162872	21	6263											
GABRB2	2561	broad.mit.edu	37	chr5	160753407	160753407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgtaattggtagtccGtctagttggggagaggtttc	9	13	14	5	2	1	1	0	0	1	1	4	3	2	1	1	4	0	4	1	4	4	6	rs140795978		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:160753407G>A	ENST00000393959.1	-	9	1158	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	GABRB2_ENST00000274547.2_Missense_Mutation_p.R387W|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517901.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	387					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ttggtagtccgtctagttggg	0.383																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1159-1161)Cgg>Tgg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	G	,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	124	122	123		,1159	4.3	1	5	dbSNP_134	123	2,8596	2.2+/-6.3	0,2,4297	no	intron,missense	GABRB2	NM_000813.2,NM_021911.2	,101	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	,benign	,387/513	160753407	3,13001	2203	4299	6502	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160753407G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1159C>T	5.37:g.160753407G>A	ENSP00000377531:p.Arg387Trp					GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	p.R387W	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1377	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	387					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1159C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409420	0.42715	2.27E-4	2.33E-4	ENSG00000145864	ENST00000393959;ENST00000274547	T;T	0.71341	-0.56;-0.56	5.23	4.35	0.52113	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.301540	0.03656	U	0.241788	T	0.55242	0.1908	N	0.08118	0	0.31427	N	0.67359	B	0.18610	0.029	B	0.10450	0.005	T	0.51284	-0.8725	10	0.59425	D	0.04	.	8.4688	0.32973	0.1803:0.0:0.8197:0.0	.	387	P47870	GBRB2_HUMAN	W	387	ENSP00000377531:R387W;ENSP00000274547:R387W	ENSP00000274547:R387W	R	-	1	2	GABRB2	160685985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.488000	0.35551	1.187000	0.43000	0.563000	0.77884	CGG		0.383	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			A	160753407	G	A	160753407	3	1	94	1	0	0	0	0	1	0	0	0	6167	1144	40	1	387	1	GABRB2	5	160753407	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	89001019	160753407	20161853	22	6264											
PKHD1	5314	broad.mit.edu	37	chr6	51941108	51941108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggataaacttggtgaacGatgggtgtctgcgccttgga	8	11	16	6	2	1	1	0	1	1	0	1	4	1	3	1	5	3	0	1	5	3	3	rs368595925		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:51941108G>A	ENST00000371117.3	-	6	689	c.414C>T	c.(412-414)atC>atT	p.I138I	PKHD1_ENST00000340994.4_Silent_p.I138I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	138	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGGTGAACGATGGGTGTCT	0.393																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(412-414)atC>atT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	103	106	105		414,414	0.2	0.7	6		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	138/4075,138/3397	51941108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51941108G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.414C>T	6.37:g.51941108G>A						PKHD1_uc003pai.3_Silent_p.I138I	p.I138I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	690	-	Lung NSC(77;0.0605)		138			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.414C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51941108	G	A	51941108	2	1	94	1	0	0	0	0	0	0	0	1	11971	1048	37	2		2	PKHD1	6	51941108	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		51941108	119173959	23	6265											
KCNQ5	56479	broad.mit.edu	37	chr6	73843328	73843328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcttccggccctcgctgCgcctcaaaagttctcagcca	6	8	8	19	4	2	0	2	0	1	0	5	0	3	0	5	1	2	3	5	1	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:73843328C>T	ENST00000370398.1	+	10	1541	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R469C|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R497C|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R478C|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R488C|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R479C	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	478					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCCCTCGCTGCGCCTCAAAAG	0.512																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1489-1491)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							66	68	67					6																	73843328		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73843328C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1432C>T	6.37:g.73843328C>T	ENSP00000359425:p.Arg478Cys					KCNQ5_uc011dyi.2_Missense_Mutation_p.R488C|KCNQ5_uc010kat.3_Missense_Mutation_p.R469C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R478C|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R228C	p.R497C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1836	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	478					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1489C>T	CCDS4976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.731170|4.731170	0.89390|0.89390	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000427928|ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	.|D;D;D;D;D;D	.|0.99741	.|-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99417|0.99417	0.9794|0.9794	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.62365	.|0.988;0.991;0.882;0.991	.|P;P;B;P	.|0.54372	.|0.651;0.75;0.301;0.705	D|D	0.98936|0.98936	1.0789|1.0789	5|10	.|0.87932	.|D	.|0	.|.	18.1396|18.1396	0.89634|0.89634	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|488;497;469;478	.|Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.|.;.;.;KCNQ5_HUMAN	V|C	69|497;497;478;478;488;479;469	.|ENSP00000345055:R497C;ENSP00000347326:R478C;ENSP00000359425:R478C;ENSP00000385501:R488C;ENSP00000347853:R479C;ENSP00000384453:R469C	.|ENSP00000345055:R497C	A|R	+|+	2|1	0|0	KCNQ5|KCNQ5	73900049|73900049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.151000|2.151000	0.42263|0.42263	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73843328	C	T	73843328	3	4	94	1	0	0	0	0	1	0	0	0	8086	768	27	1	1531	1	KCNQ5	6	73843328	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	21902220	73843328	97271739	24	6266											
MACC1	346389	broad.mit.edu	37	chr7	20199376	20199376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagttgtgtctgggcccatCcagggctctgactaattgta	8	12	11	10	0	2	1	0	1	2	0	3	1	3	1	2	2	0	3	2	2	3	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:20199376C>G	ENST00000400331.5	-	5	916	c.608G>C	c.(607-609)gGa>gCa	p.G203A	MACC1_ENST00000332878.4_Missense_Mutation_p.G203A|MACC1_ENST00000589011.1_Missense_Mutation_p.G203A	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	203					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGGGCCCATCCAGGGCTCTG	0.473																																						uc003sus.4																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(607-609)gGa>gCa		Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.							58	56	57					7																	20199376		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199376C>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.608G>C	7.37:g.20199376C>G	ENSP00000383185:p.Gly203Ala					MACC1_uc010kug.3_Missense_Mutation_p.G203A	p.G203A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			4	917	-			203					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.608G>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678165	0.68042	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.35605	1.3;1.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68530	-0.5384	10	0.87932	D	0	-20.1041	19.8516	0.96743	0.0:1.0:0.0:0.0	.	203	Q6ZN28	MACC1_HUMAN	A	203	ENSP00000383185:G203A;ENSP00000328410:G203A	ENSP00000328410:G203A	G	-	2	0	MACC1	20165901	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	7.818000	0.86416	2.685000	0.91497	0.585000	0.79938	GGA		0.473	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		G	20199376	C	G	20199376	3	3	94	1	0	0	0	0	1	0	0	0	9143	855	30	5	1962	5	MACC1	7	20199376	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		20199376	138939287	25	6267											
AMPH	273	broad.mit.edu	37	chr7	38471801	38471801	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttaccgtccataggtcCcagggcaatgtctgaaagca	10	9	11	11	1	1	1	0	1	1	0	3	1	3	1	3	3	2	3	3	3	4	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:38471801C>T	ENST00000356264.2	-	13	1361	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Nonsense_Mutation_p.W382*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.W382*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	382					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.W382*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCATAGGTCCCAGGGCAATG	0.318																																						uc003tgu.3																			1	Substitution - Nonsense(1)	p.W382*(2)	skin(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1144-1146)tgG>tgA		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.							104	106	105					7																	38471801		2203	4300	6503	SO:0001587	stop_gained	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471801C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1146G>A	7.37:g.38471801C>T	ENSP00000348602:p.Trp382*					AMPH_uc003tgv.3_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.3_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	p.W382*	NM_001635	NP_001626	P49418	AMPH_HUMAN			12	1362	-			382					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	ENST00000356264.2	37	c.1146G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.156486|8.156486	0.98680|0.98680	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.63803|.	0.2542|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55224|.	-0.8174|.	3|.	.|0.12430	.|T	.|0.62	-8.7234|-8.7234	19.5078|19.5078	0.95127|0.95127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	133|382;382;382;152	.|.	.|ENSP00000317441:W382X	G|W	-|-	1|3	0|0	AMPH|AMPH	38438326|38438326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.265000|5.265000	0.65519|0.65519	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.318	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38471801	C	T	38471801	4	4	94	1	0	0	0	0	0	1	0	0	588	624	22	3	977	3	AMPH	7	38471801	Nonsense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	18272425	38471801	120666862	26	6268											
ADCY1	107	broad.mit.edu	37	chr7	45717648	45717648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgaagtacaaacatgtcGaacgggagcaaaaggtaagc	16	5	11	9	2	0	1	0	1	0	0	1	3	0	2	1	2	5	3	1	2	7	2	rs147187783	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:45717648G>A	ENST00000297323.7	+	9	1808	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	596					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAACATGTCGAACGGGAGCA	0.557																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1786-1788)Gaa>Aaa		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	85	86	85		1786	5.2	0.4	7	dbSNP_134	85	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ADCY1	NM_021116.2	56	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	596/1120	45717648	6,13000	2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717648G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1786G>A	7.37:g.45717648G>A	ENSP00000297323:p.Glu596Lys						p.E596K	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			8	1804	+			596					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1786G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723276	0.68959	2.27E-4	5.81E-4	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.53423	0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.59436	1.845	0.80722	D	1	P	0.43477	0.808	B	0.29785	0.107	T	0.36768	-0.9734	10	0.23302	T	0.38	.	16.3318	0.83023	0.0:0.0:1.0:0.0	.	596	Q08828	ADCY1_HUMAN	K	596	ENSP00000297323:E596K	ENSP00000297323:E596K	E	+	1	0	ADCY1	45684173	1.000000	0.71417	0.403000	0.26384	0.470000	0.32858	9.260000	0.95568	2.445000	0.82738	0.655000	0.94253	GAA		0.557	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45717648	G	A	45717648	3	1	94	1	0	0	0	0	1	0	0	0	292	1059	37	2	1820	2	ADCY1	7	45717648	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	7245847	45717648	113421015	27	6269											
POM121L12	285877	broad.mit.edu	37	chr7	53103406	53103406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccgcagacctcgggaaCttctggaaggcgggagaacc	10	5	15	11	3	1	2	0	0	1	2	3	6	2	4	3	4	2	1	3	4	3	1	rs376993804		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:53103406C>T	ENST00000408890.4	+	1	58	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	14										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCGGGAACTTCTGGAAGG	0.706																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(40-42)aaC>aaT		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							12	16	15					7																	53103406		2003	4149	6152	SO:0001819	synonymous_variant	285877							g.chr7:53103406C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.42C>T	7.37:g.53103406C>T							p.N14N	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	58	+			14					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.42C>T	CCDS43584.1																																																																																				0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103406	C	T	53103406	2	4	94	1	0	0	0	0	0	0	0	1	12241	564	20	3		3	POM121L12	7	53103406	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	7385758	53103406	106035257	28	6270											
FKBP6	8468	broad.mit.edu	37	chr7	72744235	72744235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgttcaaaccgaactaCgcctatggaacgctgggctg	9	11	10	11	3	2	0	1	0	1	0	2	2	2	1	2	2	4	3	2	2	5	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:72744235C>T	ENST00000252037.4	+	4	417	c.348C>T	c.(346-348)taC>taT	p.Y116Y	FKBP6_ENST00000431982.2_Silent_p.Y111Y|TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000413573.2_Silent_p.Y86Y	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	116	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AACCGAACTACGCCTATGGAA	0.537																																						uc003tya.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(346-348)taC>taT		Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.							148	129	135					7																	72744235		2203	4300	6503	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744235C>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.348C>T	7.37:g.72744235C>T						FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.Y116Y	NM_003602	NP_003593	O75344	FKBP6_HUMAN			3	480	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	116			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.348C>T	CCDS43595.1																																																																																				0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		T	72744235	C	T	72744235	2	4	94	1	0	0	0	0	0	0	0	1	5912	547	19	1		1	FKBP6	7	72744235	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	19640829	72744235	86394428	29	6271											
MUC17	140453	broad.mit.edu	37	chr7	100680821	100680821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacctcaactcctagtgaaCggaccactccattagcaggt	13	8	7	13	1	1	1	1	1	0	0	3	2	3	2	4	2	4	1	4	2	5	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100680821C>T	ENST00000306151.4	+	3	6188	c.6124C>T	c.(6124-6126)Cgg>Tgg	p.R2042W		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2042	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.R2042W(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAACGGACCACTCC	0.502																																						uc003uxp.1																			1	Substitution - Missense(1)	p.R2042W(2)|p.E2041K(1)|p.R2042L(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6124-6126)Cgg>Tgg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							177	169	172					7																	100680821		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680821C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6124C>T	7.37:g.100680821C>T	ENSP00000302716:p.Arg2042Trp					MUC17_uc010lho.1_Non-coding_Transcript	p.R2042W	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	6177	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2042			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6124C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	6.604	0.479803	0.12581	.	.	ENSG00000169876	ENST00000306151	T	0.02944	4.1	0.512	-1.02	0.10135	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.10450	0.005	T	0.44967	-0.9293	9	0.66056	D	0.02	.	2.3639	0.04314	0.2679:0.3342:0.3979:0.0	.	2042	Q685J3	MUC17_HUMAN	W	2042	ENSP00000302716:R2042W	ENSP00000302716:R2042W	R	+	1	2	MUC17	100467541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.765000	0.00783	-1.292000	0.02366	-1.801000	0.00618	CGG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100680821	C	T	100680821	3	4	94	1	0	0	0	0	1	0	0	0	9974	527	19	1	6134	1	MUC17	7	100680821	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	27936586	100680821	58457842	30	6272											
PIK3CG	5294	broad.mit.edu	37	chr7	106508855	106508855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatgagtacctggtgggCgaaacgcccatcaaaaactt	12	7	12	10	3	1	1	1	1	0	0	1	3	1	2	2	3	3	1	2	3	4	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:106508855C>T	ENST00000359195.3	+	2	1159	c.849C>T	c.(847-849)ggC>ggT	p.G283G	PIK3CG_ENST00000496166.1_Silent_p.G283G|PIK3CG_ENST00000440650.2_Silent_p.G283G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	283	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G283G(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCTGGTGGGCGAAACGCCCA	0.552																																						uc003vdv.4																			1	Substitution - coding silent(1)	p.G283G(2)	large_intestine(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(847-849)ggC>ggT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							45	43	44					7																	106508855		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508855C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.849C>T	7.37:g.106508855C>T						PIK3CG_uc003vdu.3_Silent_p.G283G|PIK3CG_uc003vdw.3_Silent_p.G283G	p.G283G	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	934	+			283					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.849C>T	CCDS5739.1																																																																																				0.552	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106508855	C	T	106508855	2	4	94	1	0	0	0	0	0	0	0	1	11916	755	27	1		1	PIK3CG	7	106508855	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	5828034	106508855	52629808	31	6273											
PTDSS1	9791	broad.mit.edu	37	chr8	97345772	97345772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattccaagtcaaaagtcaCcaatggcgttggaaagaaat	16	8	9	8	1	2	1	2	0	0	1	3	2	3	2	2	2	0	2	2	2	6	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr8:97345772C>G	ENST00000517309.1	+	13	1726	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	PTDSS1_ENST00000522072.1_Intron|PTDSS1_ENST00000455950.2_Missense_Mutation_p.T321S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	467					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCAAAAGTCACCAATGGCGTT	0.473											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yht.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1399-1401)aCc>aGc		Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	Phosphatidylserine(DB00144)						149	139	142					8																	97345772		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97345772C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1400C>G	8.37:g.97345772C>G	ENSP00000430548:p.Thr467Ser		OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	p.T467S	NM_014754	NP_055569	P48651	PTSS1_HUMAN			12	1502	+	Breast(36;6.18e-05)		467					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1400C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050590	0.55218	.	.	ENSG00000156471	ENST00000517309;ENST00000455950	T;T	0.43294	0.95;0.95	5.55	5.55	0.83447	.	0.112886	0.64402	N	0.000011	T	0.35740	0.0942	L	0.36672	1.1	0.38495	D	0.948089	B	0.02656	0.0	B	0.04013	0.001	T	0.13282	-1.0515	10	0.32370	T	0.25	-21.7418	16.4211	0.83759	0.0:1.0:0.0:0.0	.	467	P48651	PTSS1_HUMAN	S	467;321	ENSP00000430548:T467S;ENSP00000401248:T321S	ENSP00000401248:T321S	T	+	2	0	PTDSS1	97414948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.377000	0.59562	2.602000	0.87976	0.655000	0.94253	ACC		0.473	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			G	97345772	C	G	97345772	3	3	94	1	0	0	0	0	1	0	0	0	12736	507	18	5	1450	5	PTDSS1	8	97345772	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		97345772	49018250	32	6274											
ACTL7B	10880	broad.mit.edu	37	chr9	111617172	111617172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggggaagccatccagcaTagtgcagccgccacacagta	11	5	11	14	2	0	0	0	0	0	0	2	1	1	1	4	2	4	3	4	2	3	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:111617172T>C	ENST00000374667.3	-	1	2067	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	347						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCATCCAGCATAGTGCAGCCG	0.682																																						uc004bdi.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1039-1041)Atg>Gtg		Homo sapiens actin-like 7B (ACTL7B), mRNA.							31	37	35					9																	111617172		2197	4288	6485	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617172T>C	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1039A>G	9.37:g.111617172T>C	ENSP00000363799:p.Met347Val						p.M347V	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			0	1104	-			347					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1039A>G	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955910	0.73902	.	.	ENSG00000148156	ENST00000374667	D	0.94497	-3.44	5.24	5.24	0.73138	.	0.000000	0.47455	D	0.000223	D	0.97393	0.9147	M	0.88450	2.955	0.45366	D	0.99835	D	0.63046	0.992	D	0.76071	0.987	D	0.98104	1.0416	10	0.87932	D	0	.	13.1051	0.59244	0.0:0.0:0.0:1.0	.	347	Q9Y614	ACL7B_HUMAN	V	347	ENSP00000363799:M347V	ENSP00000363799:M347V	M	-	1	0	ACTL7B	110656993	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.028000	0.64115	1.983000	0.57843	0.459000	0.35465	ATG		0.682	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		C	111617172	T	C	111617172	3	2	94	1	0	0	0	0	1	0	0	0	201	1406	49	4	212	4	ACTL7B	9	111617172	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08		111617172	29596259	33	6275											
ZNF618	114991	broad.mit.edu	37	chr9	116798608	116798608	+	Frame_Shift_Del	DEL	C	C	-																															acctgcggcgcctgtgggatCcagttccagttctacaacaa																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:116798608delC	ENST00000374126.5	+	13	1296	c.1197delC	c.(1195-1197)atcfs	p.I399fs	ZNF618_ENST00000288466.7_Frame_Shift_Del_p.I306fs|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTGTGGGATCCAGTTCCAGT	0.582																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1195-1197)atcfs		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							60	66	64					9																	116798608		1964	4143	6107	SO:0001589	frameshift_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116798608delC	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1197delC	9.37:g.116798608delC	ENSP00000363241:p.Ile399fs					ZNF618_uc004bic.3_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.2_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.2_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.3_5'UTR	p.I399fs	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			12	1296	+			399					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Frame_Shift_Del	DEL	ENST00000374126.5	37	c.1197delC																																																																																					0.582	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		-	116798608	C	-	116798608	7	5	94	1	0	1	0	1	0	0	0	0	18039	845	30	0	964	0	ZNF618	9	116798608	Frame_Shift_Del	DEL	C	TCGA-06-5418-01A-01D-1486-08	5181436	116798608	24414823	34	6276											
SCAI	286205	broad.mit.edu	37	chr9	127781214	127781214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtattatcatcatttaatAccattacaggatccgcctaa	13	14	5	9	1	2	0	2	0	0	0	3	1	3	1	3	2	2	1	3	2	6	7			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:127781214A>G	ENST00000336505.6	-	9	783	c.725T>C	c.(724-726)gTa>gCa	p.V242A	SCAI_ENST00000373549.4_Missense_Mutation_p.V265A	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	242					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCATTTAATACCATTACAGG	0.393																																						uc004bpd.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(793-795)gTa>gCa		Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.							75	71	73					9																	127781214		1895	4113	6008	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127781214A>G	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.725T>C	9.37:g.127781214A>G	ENSP00000336756:p.Val242Ala					SCAI_uc004bpe.3_Missense_Mutation_p.V242A|SCAI_uc010mwu.3_Non-coding_Transcript	p.V265A	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN			9	916	-			242					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.794T>C	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894063	0.52121	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.45276	0.9;0.9	5.31	5.31	0.75309	.	0.396213	0.27650	N	0.018430	T	0.41190	0.1148	L	0.52573	1.65	0.46521	D	0.999083	B;B	0.32507	0.294;0.373	B;B	0.36378	0.223;0.191	T	0.24799	-1.0150	10	0.31617	T	0.26	-6.7662	14.4462	0.67352	1.0:0.0:0.0:0.0	.	242;265	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	A	242;265	ENSP00000336756:V242A;ENSP00000362650:V265A	ENSP00000336756:V242A	V	-	2	0	SCAI	126821035	1.000000	0.71417	0.987000	0.45799	0.902000	0.53008	8.599000	0.90856	2.014000	0.59158	0.459000	0.35465	GTA		0.393	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		G	127781214	A	G	127781214	3	3	94	1	0	0	0	0	1	0	0	0	13869	391	14	4	1135	4	SCAI	9	127781214	Missense_Mutation	SNP	A	TCGA-06-5418-01A-01D-1486-08	10982606	127781214	13432217	35	6277											
LAMC3	10319	broad.mit.edu	37	chr9	133943586	133943586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgctgctaccctggcttCttcgacctccagcctgggag	5	9	11	16	2	1	0	0	0	1	0	3	2	2	1	5	2	4	3	5	2	1	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:133943586C>T	ENST00000361069.4	+	15	2848	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	905	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCTGGCTTCTTCGACCTCC	0.667																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2713-2715)ttC>ttT		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							47	40	42					9																	133943586		2203	4299	6502	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133943586C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2715C>T	9.37:g.133943586C>T							p.F905F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2813	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	905			Laminin EGF-like 9.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.2715C>T	CCDS6938.1																																																																																				0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133943586	C	T	133943586	2	4	94	1	0	0	0	0	0	0	0	1	8616	912	32	3		3	LAMC3	9	133943586	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	6162372	133943586	7269845	36	6278											
COL5A1	1289	broad.mit.edu	37	chr9	137623922	137623922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcacccccagattggAggacctcggggcgagaaagg	10	8	13	10	2	1	2	1	0	0	2	2	5	1	4	3	5	0	0	3	5	2	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:137623922A>G	ENST00000371817.3	+	9	1752	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	446	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGATTGGAGGACCTCGGG	0.532																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1336-1338)ggA>ggG		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							110	102	105					9																	137623922		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623922A>G	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1338A>G	9.37:g.137623922A>G							p.G446G	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1720	+		Myeloproliferative disorder(178;0.0341)	446			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1338A>G	CCDS6982.1																																																																																				0.532	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		G	137623922	A	G	137623922	2	3	94	1	0	0	0	0	0	0	0	1	3696	291	11	4		4	COL5A1	9	137623922	Silent	SNP	A	TCGA-06-5418-01A-01D-1486-08	3680336	137623922	3589509	37	6279											
ADARB2	105	broad.mit.edu	37	chr10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcagctccagctgcGtgtagaggaagtgcaggaac	10	7	15	9	1	1	1	1	0	0	1	2	3	2	3	1	3	6	5	1	3	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:1284215G>A	ENST00000381312.1	-	5	1665	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	447	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701																																						uc009xhq.3																			0		p.T447A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1339-1341)aCg>aTg		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							24	24	24					10																	1284215		2199	4294	6493	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1284215G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1340C>T	10.37:g.1284215G>A	ENSP00000370713:p.Thr447Met						p.T447M	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1666	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	447			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1340C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444837	0.83993	.	.	ENSG00000185736	ENST00000381312	D	0.93763	-3.28	5.64	5.64	0.86602	Adenosine deaminase/editase (3);	0.305278	0.37577	N	0.002025	D	0.90452	0.7010	L	0.41492	1.28	0.80722	D	1	B	0.33288	0.406	B	0.28385	0.089	D	0.89585	0.3823	10	0.66056	D	0.02	-9.3436	19.6902	0.95998	0.0:0.0:1.0:0.0	.	447	Q9NS39	RED2_HUMAN	M	447	ENSP00000370713:T447M	ENSP00000370713:T447M	T	-	2	0	ADARB2	1274215	0.995000	0.38212	0.085000	0.20634	0.712000	0.41017	6.460000	0.73518	2.656000	0.90262	0.407000	0.27541	ACG		0.701	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		A	1284215	G	A	1284215	3	1	94	1	0	0	0	0	1	0	0	0	283	1145	40	1	903	1	ADARB2	10	1284215	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		1284215	134250532	38	6280											
PFKFB3	5209	broad.mit.edu	37	chr10	6265943	6265943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagatgccctacctgaaatgCcctcttcacaccgtcctgaa	10	9	7	15	1	2	3	1	2	1	1	3	4	3	3	5	0	3	0	5	0	3	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:6265943C>T	ENST00000379775.4	+	12	1566	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	PFKFB3_ENST00000379789.4_Silent_p.C392C|PFKFB3_ENST00000379785.1_Silent_p.C412C|PFKFB3_ENST00000317350.4_Silent_p.C412C|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Silent_p.C412C|PFKFB3_ENST00000379782.3_Silent_p.C412C|PFKFB3_ENST00000540253.1_Silent_p.C426C	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	412	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.C412C(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCTGAAATGCCCTCTTCACA	0.547																																						uc001ije.3																			2	Substitution - coding silent(2)	p.C412C(3)	kidney(2)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1234-1236)tgC>tgT		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.							174	154	161					10																	6265943		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6265943C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1236C>T	10.37:g.6265943C>T						PFKFB3_uc001ijd.3_Silent_p.C392C|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.C426C|PFKFB3_uc001ijf.3_Silent_p.C412C|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	p.C412C	NM_004566	NP_004557	Q16875	F263_HUMAN			11	1620	+			412			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.1236C>T	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211409	0.22289	.	.	ENSG00000170525	ENST00000450232	.	.	.	5.1	-0.583	0.11706	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46005	-0.9222	4	.	.	.	-7.0047	7.8366	0.29374	0.0:0.4327:0.1101:0.4572	.	.	.	.	S	93	.	.	P	+	1	0	PFKFB3	6305949	0.901000	0.30685	0.970000	0.41538	0.887000	0.51463	-0.050000	0.11904	-0.017000	0.14103	0.655000	0.94253	CCC		0.547	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			T	6265943	C	T	6265943	2	4	94	1	0	0	0	0	0	0	0	1	11762	747	26	3		3	PFKFB3	10	6265943	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	4981728	6265943	129268804	39	6281											
PTEN	5728	broad.mit.edu	37	chr10	89711993	89711993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtttgaaactattcCaatgttcagtggcggaactt	11	14	10	6	1	1	2	1	2	0	0	2	4	2	3	1	2	2	2	1	2	4	5			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:89711993C>T	ENST00000371953.3	+	6	1968	c.611C>T	c.(610-612)cCa>cTa	p.P204L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	204	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.P204fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACTATTCCAATGTTCAGT	0.358		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.P204fs*17(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.P204S(1)|p.I203fs*18(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(610-612)cCa>cTa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							153	151	152					10																	89711993		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711993C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.611C>T	10.37:g.89711993C>T	ENSP00000361021:p.Pro204Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.P204L	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1643	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	204			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.611C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159829	0.94727	.	.	ENSG00000171862	ENST00000371953	D	0.93604	-3.25	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049396	0.85682	D	0.000000	D	0.96343	0.8807	M	0.78456	2.415	0.80722	D	1	D	0.63880	0.993	P	0.61070	0.883	D	0.95539	0.8610	9	.	.	.	-1.0436	20.1698	0.98157	0.0:1.0:0.0:0.0	.	204	P60484	PTEN_HUMAN	L	204	ENSP00000361021:P204L	.	P	+	2	0	PTEN	89701973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.777000	0.95525	0.585000	0.79938	CCA		0.358	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89711993	C	T	89711993	3	4	94	1	0	0	0	0	1	0	0	0	12738	594	21	3	633	3	PTEN	10	89711993	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	83446050	89711993	45822754	40	6282											
DCLRE1A	9937	broad.mit.edu	37	chr10	115610208	115610208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaccgagttatcagttTggttctgatacgaagaccat	12	13	9	7	2	2	3	1	2	1	1	2	5	2	3	2	1	2	3	2	1	4	5			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:115610208T>C	ENST00000361384.2	-	2	1573	c.656A>G	c.(655-657)cAa>cGa	p.Q219R	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q219R	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	219					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTATCAGTTTGGTTCTGATA	0.433								Other identified genes with known or suspected DNA repair function																														uc001law.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(655-657)cAa>cGa	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.							65	59	61					10																	115610208		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610208T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.656A>G	10.37:g.115610208T>C	ENSP00000355185:p.Gln219Arg						p.Q219R	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	1	1574	-			219					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.656A>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487790	0.26686	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.94723	-3.5;-3.5	5.57	4.44	0.53790	.	0.411178	0.25906	N	0.027523	D	0.94192	0.8136	M	0.62723	1.935	0.21256	N	0.999743	D	0.71674	0.998	P	0.59115	0.852	D	0.85887	0.1426	10	0.15066	T	0.55	-6.7935	6.0442	0.19750	0.0:0.0858:0.1785:0.7357	.	219	Q6PJP8	DCR1A_HUMAN	R	219	ENSP00000355185:Q219R;ENSP00000358311:Q219R	ENSP00000355185:Q219R	Q	-	2	0	DCLRE1A	115600198	0.194000	0.23325	0.225000	0.23894	0.009000	0.06853	0.320000	0.19540	0.959000	0.37980	0.455000	0.32223	CAA		0.433	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		C	115610208	T	C	115610208	3	2	94	1	0	0	0	0	1	0	0	0	4294	1812	63	4	2498	4	DCLRE1A	10	115610208	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08	25898215	115610208	19924539	41	6283											
METTL12	751071	broad.mit.edu	37	chr11	62434124	62434124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtgctgggggtggacttTtctcctgtggctgtggccca	3	13	16	9	0	1	0	0	0	1	0	2	2	1	1	2	5	1	2	2	5	0	2	rs376560159		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr11:62434124T>C	ENST00000532971.1	+	3	581	c.324T>C	c.(322-324)ttT>ttC	p.F108F	SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	108						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGGTGGACTTTTCTCCTGTGG	0.592																																						uc001nug.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(322-324)ttT>ttC		Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.							52	57	55					11																	62434124		1947	4155	6102	SO:0001819	synonymous_variant	751071					mitochondrion	methyltransferase activity	g.chr11:62434124T>C	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.324T>C	11.37:g.62434124T>C						C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_Non-coding_Transcript	p.F108F	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			2	583	+			108					B7Z4C1	Silent	SNP	ENST00000532971.1	37	c.324T>C	CCDS41657.1																																																																																				0.592	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229		C	62434124	T	C	62434124	2	2	94	1	0	0	0	0	0	0	0	1	9496	1838	64	4		4	METTL12	11	62434124	Silent	SNP	T	TCGA-06-5418-01A-01D-1486-08		62434124	72572392	42	6284											
AICDA	57379	broad.mit.edu	37	chr12	8758006	8758006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggtgaaccaggtgaCgcggtagcagcggccagggt	9	4	18	10	3	0	2	0	2	0	0	0	3	0	3	3	6	3	2	3	6	2	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:8758006C>T	ENST00000229335.6	-	3	335	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	AICDA_ENST00000537228.1_Missense_Mutation_p.V78I	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	78					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AACCAGGTGACGCGGTAGCAG	0.617																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			0		p.R77R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(232-234)Gtc>Atc		Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.							48	54	52					12																	8758006		2125	4245	6370	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758006C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.232G>A	12.37:g.8758006C>T	ENSP00000229335:p.Val78Ile					AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	p.V78I	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			2	311	-	Lung SC(5;0.184)		78					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.232G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722388	0.48728	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.57907	0.37;0.37	5.43	5.43	0.79202	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	0.170536	0.52532	D	0.000074	T	0.34745	0.0908	N	0.13198	0.31	0.48452	D	0.999658	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.09377	0.004;0.004;0.004	T	0.13361	-1.0512	10	0.30854	T	0.27	-35.0235	12.2559	0.54623	0.0:0.9178:0.0:0.0822	.	78;78;78	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	I	78	ENSP00000229335:V78I;ENSP00000445691:V78I	ENSP00000229335:V78I	V	-	1	0	AICDA	8649273	0.991000	0.36638	0.960000	0.40013	0.985000	0.73830	2.806000	0.47947	2.545000	0.85829	0.462000	0.41574	GTC		0.617	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8758006	C	T	8758006	3	4	94	1	0	0	0	0	1	0	0	0	422	536	19	1	376	1	AICDA	12	8758006	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		8758006	125093889	43	6285											
AGAP2	100130776	broad.mit.edu	37	chr12	58120988	58120988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagctgctcgtacttggcGcgaatccacgactcgcgctc	7	9	11	14	6	0	0	0	0	0	0	4	2	1	0	1	1	3	5	1	1	3	3	rs145154021		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:58120988G>A	ENST00000542466.2	+	2	349	c.213G>A	c.(211-213)gcG>gcA	p.A71A	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Silent_p.R679R|AGAP2_ENST00000547588.1_Silent_p.R1035R					AGAP2 antisense RNA 1																		CGTACTTGGCGCGAATCCACG	0.677											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001spq.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(3103-3105)cgC>cgT		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.							17	20	19					12																	58120988		2195	4280	6475	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58120988G>A	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"Long non-coding RNAs"	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.213G>A	12.37:g.58120988G>A			OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	AGAP2_uc001spp.3_Silent_p.R1034R|AGAP2_uc001spr.3_Silent_p.R679R|LOC100130776_uc001sps.4_Silent_p.A71A	p.R1035R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			17	3105	-			1035			Arf-GAP.			Silent	SNP	ENST00000542466.2	37	c.3105C>T		.	.	.	.	.	.	.	.	.	.	g	9.444	1.088913	0.20390	.	.	ENSG00000135439	ENST00000328568	T	0.50277	0.75	4.99	-1.43	0.08884	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38929	-0.9638	7	0.87932	D	0	.	0.5507	0.00662	0.29:0.2087:0.307:0.1943	.	.	.	.	C	879	ENSP00000328160:R879C	ENSP00000328160:R879C	R	-	1	0	AGAP2	56407255	0.000000	0.05858	0.993000	0.49108	0.992000	0.81027	-2.380000	0.01066	-0.228000	0.09869	-0.127000	0.14921	CGC		0.677	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1			A	58120988	G	A	58120988	2	1	94	1	0	0	0	0	0	0	0	1	368	1074	38	1		1	AGAP2	12	58120988	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	49362982	58120988	75730907	44	6286											
USP15	9958	broad.mit.edu	37	chr12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A																															tggattgggatcctgatttgINSaaaaaaagatattttgatga																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2269-2274)ttgaaafs		Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785633_62785634insA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2278dupA	12.37:g.62785640_62785640dupA	ENSP00000280377:p.Lys758fs					USP15_uc001srb.2_Frame_Shift_Ins_p.L728fs	p.L757fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2346_2347	+			757					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	c.2271_2272insA	CCDS58251.1																																																																																				0.277	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		A	62785634	-	A	62785633	7	5	94	1	0	1	1	0	0	0	0	0	17043	1281	45	0	2246	0	USP15	12	62785633	Frame_Shift_Ins	INS	-	TCGA-06-5418-01A-01D-1486-08	4664645	62785633	71066262	45	6287											
ZFHX3	463	broad.mit.edu	37	chr16	72832031	72832031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctttggctctgagcccGagtcttcttgtactgaccca	5	14	8	14	1	4	2	0	2	4	0	5	3	4	2	2	1	2	2	2	1	1	4	rs144091993	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:72832031G>A	ENST00000268489.5	-	9	5222	c.4550C>T	c.(4549-4551)tCg>tTg	p.S1517L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S603L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1517					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGAGCCCGAGTCTTCTTG	0.483													G|||	10	0.00199681	0.003	0	5008	,	,		20571	0		0	False		,,,				2504	0.0061					uc002fck.3																			0		p.S1517S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4549-4551)tCg>tTg		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.		G	LEU/SER,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	85	88	87		1808,4550	5.8	1	16	dbSNP_134	87	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	145,145	0,4,6494	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	603/2790,1517/3704	72832031	4,12992	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72832031G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4550C>T	16.37:g.72832031G>A	ENSP00000268489:p.Ser1517Leu					ZFHX3_uc002fcl.3_Missense_Mutation_p.S603L	p.S1517L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	5223	-		Ovarian(137;0.13)	1517					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4550C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824658	0.50739	2.27E-4	3.49E-4	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73681	-0.77;-0.73	5.78	5.78	0.91487	.	0.000000	0.42548	D	0.000696	T	0.63355	0.2504	L	0.36672	1.1	0.80722	D	1	B	0.30741	0.293	B	0.18871	0.023	T	0.61515	-0.7047	10	0.07644	T	0.81	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1517	Q15911	ZFHX3_HUMAN	L	1517;603	ENSP00000268489:S1517L;ENSP00000438926:S603L	ENSP00000268489:S1517L	S	-	2	0	ZFHX3	71389532	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	4.751000	0.62169	2.894000	0.99253	0.655000	0.94253	TCG		0.483	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72832031	G	A	72832031	3	1	94	1	0	0	0	0	1	0	0	0	17631	1059	37	2	6569	2	ZFHX3	16	72832031	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		72832031	17522722	46	6288											
GEMIN4	50628	broad.mit.edu	37	chr17	649261	649261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctctagagtctggatGaagatcctcagactgaggtc	9	12	11	9	0	3	5	1	2	2	3	5	6	4	6	2	2	1	0	2	2	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:649261G>T	ENST00000319004.5	-	2	2140	c.2022C>A	c.(2020-2022)ttC>ttA	p.F674L	GEMIN4_ENST00000576778.1_Missense_Mutation_p.F663L	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	674					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGTCTGGATGAAGATCCTCA	0.537																																						uc002frs.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(2020-2022)ttC>ttA		Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.							39	42	41					17																	649261		1975	4150	6125	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649261G>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2022C>A	17.37:g.649261G>T	ENSP00000321706:p.Phe674Leu						p.F674L	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2141	-		Myeloproliferative disorder(207;0.204)	674					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.2022C>A	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	1.315	-0.601147	0.03744	.	.	ENSG00000179409	ENST00000319004	T	0.02787	4.16	5.57	3.56	0.40772	.	0.062472	0.64402	D	0.000003	T	0.01661	0.0053	N	0.13043	0.29	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.38415	-0.9662	10	0.02654	T	1	-11.7768	9.1656	0.37050	0.2245:0.0:0.7755:0.0	.	674	P57678	GEMI4_HUMAN	L	674	ENSP00000321706:F674L	ENSP00000321706:F674L	F	-	3	2	GEMIN4	596011	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.042000	0.49815	1.354000	0.45846	0.655000	0.94253	TTC		0.537	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		T	649261	G	T	649261	3	4	94	1	0	0	0	0	1	0	0	0	6330	1281	45	5	1158	5	GEMIN4	17	649261	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		649261	80545949	47	6289											
DNAH2	146754	broad.mit.edu	37	chr17	7702526	7702526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaacaacctgcacatcGtgctctgcctcagccccatg	9	8	8	16	1	2	1	1	0	1	1	3	1	2	1	4	0	7	3	4	0	2	0	rs147918283		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:7702526G>A	ENST00000572933.1	+	56	10125	c.8665G>A	c.(8665-8667)Gtg>Atg	p.V2889M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2889M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2889	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGCACATCGTGCTCTGCCT	0.597																																						uc002giu.1																			0		p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8665-8667)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	107	86	93		8665	4.4	1	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	2889/4428	7702526	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702526G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8665G>A	17.37:g.7702526G>A	ENSP00000458355:p.Val2889Met						p.V2889M	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			54	8679	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2889			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8665G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622929	0.87460	4.54E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.51574	0.7	5.48	4.38	0.52667	Dynein heavy chain, P-loop containing D4 domain (1);	0.149366	0.43747	D	0.000535	T	0.65048	0.2654	M	0.88979	2.995	0.80722	D	1	P	0.47191	0.891	P	0.52909	0.713	T	0.70722	-0.4794	10	0.87932	D	0	.	10.9592	0.47374	0.1145:0.0:0.8855:0.0	.	2889	Q9P225	DYH2_HUMAN	M	2889	ENSP00000373825:V2889M	ENSP00000353818:V2889M	V	+	1	0	DNAH2	7643251	0.999000	0.42202	1.000000	0.80357	0.903000	0.53119	2.754000	0.47532	1.063000	0.40649	0.561000	0.74099	GTG		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7702526	G	A	7702526	3	1	94	1	0	0	0	0	1	0	0	0	4602	1145	40	1	8883	1	DNAH2	17	7702526	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	7053265	7702526	73492684	48	6290											
WNK4	65266	broad.mit.edu	37	chr17	40945618	40945618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgcaaggtatataaCgagttcattctgccttcgga	10	11	9	11	3	2	0	1	0	1	0	4	3	2	1	2	2	2	3	2	2	4	6			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:40945618C>T	ENST00000246914.5	+	12	2187	c.2166C>T	c.(2164-2166)aaC>aaT	p.N722N		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	722					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGTATATAACGAGTTCATTC	0.532																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.3																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2164-2166)aaC>aaT		Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.							91	69	76					17																	40945618		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40945618C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2166C>T	17.37:g.40945618C>T						WNK4_uc010wgx.2_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	p.N722N	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2234	+		Breast(137;0.000143)	722					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.2166C>T	CCDS11439.1																																																																																				0.532	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40945618	C	T	40945618	2	4	94	1	0	0	0	0	0	0	0	1	17377	535	19	1		1	WNK4	17	40945618	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	33243092	40945618	40249592	49	6291											
TUBB4	10382	broad.mit.edu	37	chr19	6495886	6495886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtgcggaaacagatgtcGtagagtgcctcgttgtcgat	9	10	15	7	4	0	2	0	0	0	2	3	4	0	3	1	2	3	2	1	2	2	2	rs199666595		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:6495886G>A	ENST00000264071.2	-	4	995	c.624C>T	c.(622-624)taC>taT	p.Y208Y	TUBB4A_ENST00000540257.1_Silent_p.Y208Y|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	208					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AACAGATGTCGTAGAGTGCCT	0.612																																						uc002mfg.1																			0											c.(622-624)taC>taT		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							244	169	194					19																	6495886		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495886G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.624C>T	19.37:g.6495886G>A						TUBB4A_uc002mff.1_Silent_p.Y136Y|JA429441_uc021unq.1_5'Flank	p.Y208Y	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	731	-			208					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.624C>T	CCDS12168.1																																																																																				0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495886	G	A	6495886	2	1	94	1	0	0	0	0	0	0	0	1	16755	1140	40	1		1	TUBB4	19	6495886	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		6495886	52633097	50	6292											
KIF16B	55614	broad.mit.edu	37	chr20	16337074	16337074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtcatctggatttgcGcccaaagagcgagaaaccat	12	9	10	10	2	3	2	2	0	1	2	3	4	3	3	2	2	3	0	2	2	2	2	rs533447502		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:16337074G>A	ENST00000354981.2	-	23	3679	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Silent_p.G1174G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1174					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGATTTGCGCCCAAAGAGC	0.493													G|||	1	0.000199681	0	0.0014	5008	,	,		17937	0		0	False		,,,				2504	0					uc002wpg.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3520-3522)ggC>ggT		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							93	82	86					20																	16337074		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16337074G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3522C>T	20.37:g.16337074G>A						KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Silent_p.G1123G	p.G1174G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			22	3681	-			1174					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3522C>T	CCDS13122.1																																																																																				0.493	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16337074	G	A	16337074	2	1	94	1	0	0	0	0	0	0	0	1	8278	1074	38	1		1	KIF16B	20	16337074	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		16337074	46688446	51	6293											
PARD6B	84612	broad.mit.edu	37	chr20	49366651	49366651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcataacagtgagaccgGcaaaccagaggaataatgtt	16	8	9	8	1	2	2	2	1	0	2	2	4	2	3	2	2	2	2	2	2	4	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:49366651G>A	ENST00000371610.2	+	3	988	c.745G>A	c.(745-747)Gca>Aca	p.A249T	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	249	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AGTGAGACCGGCAAACCAGAG	0.448																																						uc002xvo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(745-747)Gca>Aca		Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.							127	122	124					20																	49366651		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366651G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.745G>A	20.37:g.49366651G>A	ENSP00000360672:p.Ala249Thr						p.A249T	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			2	988	+			249			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.745G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618062	0.96649	.	.	ENSG00000124171	ENST00000371610	T	0.18174	2.23	6.02	6.02	0.97574	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.78456	2.415	0.80722	D	1	D	0.65815	0.995	D	0.64687	0.928	T	0.33292	-0.9874	10	0.87932	D	0	-32.8013	20.5407	0.99260	0.0:0.0:1.0:0.0	.	249	Q9BYG5	PAR6B_HUMAN	T	249	ENSP00000360672:A249T	ENSP00000360672:A249T	A	+	1	0	PARD6B	48800058	1.000000	0.71417	0.225000	0.23894	0.961000	0.63080	9.383000	0.97214	2.865000	0.98341	0.655000	0.94253	GCA		0.448	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		A	49366651	G	A	49366651	3	1	94	1	0	0	0	0	1	0	0	0	11446	1203	42	3	755	3	PARD6B	20	49366651	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	33029577	49366651	13658869	52	6294											
ITGB2	3689	broad.mit.edu	37	chr21	46311847	46311847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtccgtgaagcccagcGcccggatgacaaacgactgc	10	6	11	14	4	0	2	0	2	0	0	1	4	1	3	3	1	4	0	3	1	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:46311847G>A	ENST00000397850.2	-	12	1741	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	ITGB2_ENST00000397852.1_Missense_Mutation_p.A430V|ITGB2_ENST00000302347.5_Missense_Mutation_p.A430V|ITGB2_ENST00000397854.3_Missense_Mutation_p.A373V|ITGB2_ENST00000355153.4_Missense_Mutation_p.A430V|ITGB2_ENST00000397857.1_Missense_Mutation_p.A430V			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	430					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAAGCCCAGCGCCCGGATGAC	0.642																																						uc002zgd.2																			0		p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(1288-1290)gCg>gTg		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						97	78	84					21																	46311847		2200	4300	6500	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46311847G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1289C>T	21.37:g.46311847G>A	ENSP00000380948:p.Ala430Val					ITGB2_uc002zgf.3_Missense_Mutation_p.A430V|ITGB2_uc011afl.1_Missense_Mutation_p.A352V|ITGB2_uc010gpw.2_Missense_Mutation_p.A373V|ITGB2_uc002zgg.2_Missense_Mutation_p.A430V	p.A430V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	9	1333	-			430					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1289C>T	CCDS13716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378024|2.378024	0.42105|0.42105	.|.	.|.	ENSG00000160255|ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347|ENST00000545414	T;T;T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Integrin beta subunit, N-terminal (2);|.	.|.	.|.	.|.	.|.	T|T	0.52322|0.52322	0.1727|0.1727	L|L	0.41079|0.41079	1.255|1.255	0.09310|0.09310	N|N	0.999992|0.999992	D;P|.	0.56035|.	0.974;0.819|.	B;B|.	0.35859|.	0.212;0.064|.	T|T	0.49624|0.49624	-0.8920|-0.8920	9|6	0.87932|0.48119	D|T	0|0.1	.|.	16.9813|16.9813	0.86328|0.86328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373;430|.	A8MYE6;P05107|.	.;ITB2_HUMAN|.	V|C	430;430;373;430;430;430|373	ENSP00000380950:A430V;ENSP00000380955:A430V;ENSP00000380952:A373V;ENSP00000347279:A430V;ENSP00000380948:A430V;ENSP00000303242:A430V|.	ENSP00000303242:A430V|ENSP00000445948:R373C	A|R	-|-	2|1	0|0	ITGB2|ITGB2	45136275|45136275	1.000000|1.000000	0.71417|0.71417	0.377000|0.377000	0.26055|0.26055	0.462000|0.462000	0.32619|0.32619	7.258000|7.258000	0.78371|0.78371	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		A	46311847	G	A	46311847	3	1	94	1	0	0	0	0	1	0	0	0	7894	1087	38	1	1044	1	ITGB2	21	46311847	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		46311847	1818048	53	6295											
PCBP3	54039	broad.mit.edu	37	chr21	47355174	47355174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatacccaggtctggaCgccagcccaccggccagcac	8	6	11	16	2	1	0	0	0	1	0	1	1	1	1	5	4	3	2	5	4	2	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:47355174C>T	ENST00000400314.1	+	14	1202	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_ENST00000400310.1_Silent_p.D268D|PCBP3_ENST00000449640.1_Silent_p.D288D|PCBP3_ENST00000400304.1_Silent_p.D278D|PCBP3_ENST00000400309.1_Silent_p.D287D|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400308.1_Silent_p.D262D			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	288					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577																																						uc010gqb.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(862-864)gaC>gaT		Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.							58	68	65					21																	47355174		2071	4206	6277	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47355174C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.864C>T	21.37:g.47355174C>T						PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	p.D288D	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1127	+	all_hematologic(128;0.24)		288					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.864C>T	CCDS42974.2																																																																																				0.577	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			T	47355174	C	T	47355174	2	4	94	1	0	0	0	0	0	0	0	1	11502	535	19	1		1	PCBP3	21	47355174	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	1043327	47355174	774721	54	6296											
IL3RA	3563	broad.mit.edu	37	chrX	1464293	1464293	+	Frame_Shift_Del	DEL	T	T	-																															taacagaaatgtgaccgataTcgagtgtgttaaagacgccg																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:1464293delT	ENST00000331035.4	+	3	498	c.149delT	c.(148-150)atcfs	p.I50fs	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	50					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGACCGATATCGAGTGTGTT	0.358																																						uc004cps.3																			0				lung(1)|skin(2)	3						c.(148-150)atcfs		Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	Sargramostim(DB00020)						292	275	281					X																	1464293		2200	4296	6496	SO:0001589	frameshift_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464293delT	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.149delT	X.37:g.1464293delT	ENSP00000327890:p.Ile50fs					CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	p.I50fs	NM_002183	NP_002174	P26951	IL3RA_HUMAN			2	498	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	50					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Frame_Shift_Del	DEL	ENST00000331035.4	37	c.149delT	CCDS14113.1																																																																																				0.358	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			-	1464293	T	-	1464293	7	5	94	1	0	1	0	1	0	0	0	0	7695	1435	50	0	155	0	IL3RA	23	1464293	Frame_Shift_Del	DEL	T	TCGA-06-5418-01A-01D-1486-08		1464293	153806267	55	6297											
PCDH19	57526	broad.mit.edu	37	chrX	99662549	99662551	+	In_Frame_Del	DEL	CAG	CAG	-																															acaagctcactgttgactgaCagcaggttgatgaccggcgg																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:99662549_99662551delCAG	ENST00000373034.4	-	1	2720_2722	c.1045_1047delCTG	c.(1045-1047)ctgdel	p.L349del	PCDH19_ENST00000420881.2_In_Frame_Del_p.L349del|PCDH19_ENST00000255531.7_In_Frame_Del_p.L349del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	349					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTTGACTGACAGCAGGTTGATG	0.616																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1045-1047)ctgdel		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662549_99662551delCAG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1045_1047delCTG	X.37:g.99662552_99662554delCAG	ENSP00000362125:p.Leu349del					PCDH19_uc004efw.4_In_Frame_Del_p.L349del|PCDH19_uc004efx.4_In_Frame_Del_p.L349del	p.L349del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	2721_2723	-			349					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	In_Frame_Del	DEL	ENST00000373034.4	37	c.1045_1047delCTG	CCDS55462.1																																																																																				0.616	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		-	99662551	CAG	-	99662549	7	5	94	1	0	1	0	1	0	0	0	0	11514	465	17	0	2423	0	PCDH19	23	99662549	In_Frame_Del	DEL	CAG	TCGA-06-5418-01A-01D-1486-08	98198256	99662549	55608011	56	6298											
TBC1D8B	54885	broad.mit.edu	37	chrX	106097468	106097468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatatacatagtatgcGctgtcgaaataggttgtatg	13	13	11	4	2	0	2	0	1	0	1	1	3	0	2	0	1	2	4	0	1	8	7	rs202142436		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:106097468G>A	ENST00000357242.5	+	14	2468	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R759H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	765							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R765H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAGTATGCGCTGTCGAAAT	0.348																																						uc004emo.3																			1	Substitution - Missense(1)	p.R765H(2)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2293-2295)cGc>cAc		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.		G	HIS/ARG	0,3835		0,0,0,1632,571	91	74	80		2294	4.5	1	X		80	2,6724		0,1,1,2427,1869	no	missense	TBC1D8B	NM_017752.2	29	0,1,1,4059,2440	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging	765/1121	106097468	2,10559	2203	4298	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106097468G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2294G>A	X.37:g.106097468G>A	ENSP00000349781:p.Arg765His					MORC4_uc004emp.4_Intron	p.R765H	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			13	2459	+			765					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2294G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512781	0.85389	0.0	2.97E-4	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.20069	2.12;2.1	4.52	4.52	0.55395	.	0.069432	0.64402	D	0.000011	T	0.49423	0.1556	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.58399	-0.7643	10	0.87932	D	0	-1.6123	15.2819	0.73790	0.0:0.0:1.0:0.0	.	765	Q0IIM8	TBC8B_HUMAN	H	765;759	ENSP00000349781:R765H;ENSP00000276175:R759H	ENSP00000276175:R759H	R	+	2	0	TBC1D8B	105984124	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.375000	0.97178	1.981000	0.57761	0.540000	0.68198	CGC		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106097468	G	A	106097468	3	1	94	1	0	0	0	0	1	0	0	0	15623	1087	38	1	2414	1	TBC1D8B	23	106097468	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	6434919	106097468	49173092	57	6299											
ZMYM1	79830	broad.mit.edu	37	chr1	35580838	35580841	+	Frame_Shift_Del	DEL	TCAG	TCAG	-																															tgaaattgtggaaaagtttaTcagtcagatgaaagaaatat																								rs190358882	byFrequency	TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:35580838_35580841delTCAG	ENST00000373330.1	+	11	3581_3584	c.3407_3410delTCAG	c.(3406-3411)atcagtfs	p.IS1136fs	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Frame_Shift_Del_p.IS1136fs			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1136						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAAGTTTATCAGTCAGATGAAA	0.348																																						uc001bym.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3406-3411)atcagtfs		Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.																																				SO:0001589	frameshift_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580838_35580841delTCAG	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3407_3410delTCAG	1.37:g.35580842_35580845delTCAG	ENSP00000362427:p.Ile1136fs					ZMYM1_uc001byn.3_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.2_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.3_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.3_Frame_Shift_Del_p.I1061fs	p.I1136fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			9	3553_3556	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1136					D3DPR7|Q7Z3Q4	Frame_Shift_Del	DEL	ENST00000373330.1	37	c.3407_3410delTCAG	CCDS41302.1																																																																																				0.348	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		-	35580841	TCAG	-	35580838	7	5	95	1	0	1	0	1	0	0	0	0	17696	1435	50	0	3441	0	ZMYM1	1	35580838	Frame_Shift_Del	DEL	TCAG	TCGA-06-5856-01A-01D-1696-08		35580838	213669783	1	6300											
GNG5	2787	broad.mit.edu	37	chr1	84967630	84967630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagacagaactgtttCaagtctgcagctgcctggga	9	11	11	10	0	3	2	1	0	2	2	3	3	3	3	1	1	5	4	1	1	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:84967630C>A	ENST00000370641.3	-	2	578	c.105G>T	c.(103-105)ttG>ttT	p.L35F	GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Missense_Mutation_p.L35F			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	35					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGAACTGTTTCAAGTCTGCAG	0.433																																						uc001djw.4																			0				lung(1)|skin(1)	2						c.(103-105)ttG>ttT		Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.							42	47	45					1																	84967630		2203	4300	6503	SO:0001583	missense	2787				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967630C>A	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.105G>T	1.37:g.84967630C>A	ENSP00000359675:p.Leu35Phe						p.L35F	NM_005274	NP_005265	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	2	459	-			35					B2R5A0|P30670|Q5VX54|Q61015	Missense_Mutation	SNP	ENST00000370641.3	37	c.105G>T	CCDS696.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127723	0.56721	.	.	ENSG00000174021	ENST00000370645;ENST00000370641	T;T	0.35605	1.3;1.3	5.63	2.74	0.32292	G-protein gamma domain (5);	0.000000	0.64402	D	0.000006	T	0.25975	0.0633	.	.	.	0.52501	D	0.999952	B	0.26400	0.148	B	0.39771	0.309	T	0.14531	-1.0469	9	0.66056	D	0.02	.	11.2028	0.48751	0.0:0.7999:0.0:0.2001	.	35	P63218	GBG5_HUMAN	F	35	ENSP00000359679:L35F;ENSP00000359675:L35F	ENSP00000359675:L35F	L	-	3	2	GNG5	84740218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.439000	0.35013	0.415000	0.25817	0.655000	0.94253	TTG		0.433	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		A	84967630	C	A	84967630	3	1	95	1	0	0	0	0	1	0	0	0	6530	825	29	5	105	5	GNG5	1	84967630	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	49386792	84967630	164282991	2	6301											
SPAG17	200162	broad.mit.edu	37	chr1	118539227	118539227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattcttttacctggggAcatgttcaccatagatttgc	9	17	7	8	0	2	1	1	0	1	1	2	2	2	2	2	2	2	1	2	2	4	8	rs548598350		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:118539227A>T	ENST00000336338.5	-	33	4981	c.4916T>A	c.(4915-4917)gTc>gAc	p.V1639D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1639						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTACCTGGGGACATGTTCACC	0.299													A|||	1	0.000199681	8e-04	0	5008	,	,		17823	0		0	False		,,,				2504	0					uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4915-4917)gTc>gAc		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							78	80	79					1																	118539227		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118539227A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4916T>A	1.37:g.118539227A>T	ENSP00000337804:p.Val1639Asp					SPAG17_uc021osr.1_Missense_Mutation_p.V149D	p.V1639D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4984	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1639					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4916T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866520	0.72065	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.22539	1.95	5.2	5.2	0.72013	.	0.243315	0.40728	N	0.001023	T	0.31765	0.0807	M	0.61703	1.905	0.47276	D	0.999371	D	0.76494	0.999	D	0.72075	0.976	T	0.09079	-1.0691	10	0.87932	D	0	.	11.3873	0.49793	1.0:0.0:0.0:0.0	.	1639	Q6Q759	SPG17_HUMAN	D	1639;119	ENSP00000337804:V1639D	ENSP00000337804:V1639D	V	-	2	0	SPAG17	118340750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.400000	0.44504	2.174000	0.68829	0.533000	0.62120	GTC		0.299	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118539227	A	T	118539227	3	4	95	1	0	0	0	0	1	0	0	0	14979	275	10	5	1819	5	SPAG17	1	118539227	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	33571597	118539227	130711394	3	6302											
BCL9	607	broad.mit.edu	37	chr1	147092093	147092093	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaacttgagtttgggaTggttcctagtgggatgaagg	8	12	17	4	1	0	2	0	2	0	0	2	5	1	5	1	5	1	2	1	5	3	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:147092093T>G	ENST00000234739.3	+	8	2872	c.2132T>G	c.(2131-2133)aTg>aGg	p.M711R		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	711	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAGTTTGGGATGGTTCCTAGT	0.527			T	"IGH@, IGL@"	B-ALL																																	uc001epq.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2131-2133)aTg>aGg		Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.							46	48	47					1																	147092093		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092093T>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2132T>G	1.37:g.147092093T>G	ENSP00000234739:p.Met711Arg					BCL9_uc010ozr.1_Missense_Mutation_p.M637R	p.M711R	NM_004326	NP_004317	O00512	BCL9_HUMAN			7	2872	+	all_hematologic(923;0.115)		711			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2132T>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827822	0.32329	.	.	ENSG00000116128	ENST00000234739	T	0.50001	0.76	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	L	0.36672	1.1	0.80722	D	1	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.22977	-1.0201	10	0.62326	D	0.03	-6.6894	14.7066	0.69194	0.0:0.0:0.0:1.0	.	711;711	Q1JQ81;O00512	.;BCL9_HUMAN	R	711	ENSP00000234739:M711R	ENSP00000234739:M711R	M	+	2	0	BCL9	145558717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.070000	0.61991	0.482000	0.46254	ATG		0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		G	147092093	T	G	147092093	3	3	95	1	0	0	0	0	1	0	0	0	1381	1464	51	5	2150	5	BCL9	1	147092093	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	28552866	147092093	102158528	4	6303											
KPRP	448834	broad.mit.edu	37	chr1	152732521	152732521	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaatgcccagtccagaacTatgtaccctgtccagctcct	10	10	7	14	0	0	2	0	0	0	2	3	2	3	2	5	0	4	2	5	0	5	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:152732521T>G	ENST00000606109.1	+	1	485	c.457T>G	c.(457-459)Tat>Gat	p.Y153D	KPRP_ENST00000368773.1_Missense_Mutation_p.Y153D			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	153	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCCAGAACTATGTACCCTG	0.512																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(457-459)Tat>Gat		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							123	123	123					1																	152732521		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732521T>G	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.457T>G	1.37:g.152732521T>G	ENSP00000475216:p.Tyr153Asp					KPRP_uc021ozf.1_Missense_Mutation_p.Y153D	p.Y153D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	515	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		153			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.457T>G	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369970	0.42003	.	.	ENSG00000203786	ENST00000368773	T	0.24350	1.86	5.63	5.63	0.86233	.	0.162082	0.29668	N	0.011505	T	0.35335	0.0928	M	0.65975	2.015	0.30733	N	0.746969	D	0.69078	0.997	D	0.66351	0.943	T	0.33137	-0.9880	10	0.87932	D	0	-16.0441	12.5318	0.56120	0.0:0.0:0.0:1.0	.	153	Q5T749	KPRP_HUMAN	D	153	ENSP00000357762:Y153D	ENSP00000357762:Y153D	Y	+	1	0	KPRP	150999145	0.916000	0.31088	0.257000	0.24404	0.204000	0.24138	3.611000	0.54132	2.283000	0.76528	0.533000	0.62120	TAT		0.512	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		G	152732521	T	G	152732521	3	3	95	1	0	0	0	0	1	0	0	0	8436	1522	53	5	459	5	KPRP	1	152732521	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	5640428	152732521	96518100	5	6304											
NPR1	4881	broad.mit.edu	37	chr1	153657481	153657481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggcctcggagctgtggcGggtgcgctgggaggacgttg	4	8	20	9	4	0	0	0	0	0	0	1	3	0	3	1	6	2	3	1	6	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:153657481G>A	ENST00000368680.3	+	8	1998	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	509					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCTGTGGCGGGTGCGCTGG	0.647																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1525-1527)cGg>cAg		Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						67	66	66					1																	153657481		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153657481G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1526G>A	1.37:g.153657481G>A	ENSP00000357669:p.Arg509Gln					NPR1_uc010pdz.2_Missense_Mutation_p.R255Q|NPR1_uc010pea.2_Missense_Mutation_p.R13Q	p.R509Q	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1947	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		509					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1526G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907099	0.92107	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.44083	0.93	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000003	T	0.44829	0.1312	M	0.79614	2.46	0.80722	D	1	D;P	0.63046	0.992;0.92	P;B	0.53185	0.72;0.327	T	0.36962	-0.9726	10	0.20046	T	0.44	.	15.5406	0.76043	0.0:0.0:1.0:0.0	.	14;509	B7Z4Y7;P16066	.;ANPRA_HUMAN	Q	509;14	ENSP00000357669:R509Q	ENSP00000357669:R509Q	R	+	2	0	NPR1	151924105	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.191000	0.94940	2.525000	0.85131	0.655000	0.94253	CGG		0.647	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		A	153657481	G	A	153657481	3	1	95	1	0	0	0	0	1	0	0	0	10594	1116	39	2	1556	2	NPR1	1	153657481	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	924960	153657481	95593140	6	6305											
C1orf198	84886	broad.mit.edu	37	chr1	230979428	230979428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actcggcctcaggcccctccCctcgggaccgctcagcattg	5	7	10	19	3	2	0	2	0	0	0	5	1	3	1	6	3	1	2	6	3	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:230979428C>T	ENST00000366663.5	-	3	739	c.599G>A	c.(598-600)gGg>gAg	p.G200E	C1orf198_ENST00000470540.1_Missense_Mutation_p.G162E|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.G70E	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	200						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGCCCCTCCCCTCGGGACCG	0.632																																						uc001hub.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(598-600)gGg>gAg		Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.							82	82	82					1																	230979428		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230979428C>T	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.599G>A	1.37:g.230979428C>T	ENSP00000355623:p.Gly200Glu					C1orf198_uc009xfh.2_Missense_Mutation_p.G70E|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.G162E	p.G200E	NM_032800	NP_001129967	Q9H425	CA198_HUMAN			2	643	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	200					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.599G>A	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599605	0.46318	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.29917	1.57;1.57;1.55	3.68	2.64	0.31445	.	0.299728	0.27411	U	0.019492	T	0.26846	0.0657	L	0.44542	1.39	0.25061	N	0.991068	P	0.49447	0.924	P	0.44990	0.466	T	0.08411	-1.0723	10	0.30078	T	0.28	-20.2407	10.0774	0.42368	0.377:0.623:0.0:0.0	.	200	Q9H425	CA198_HUMAN	E	200;162;70;157	ENSP00000355623:G200E;ENSP00000428172:G162E;ENSP00000430967:G70E	ENSP00000355623:G200E	G	-	2	0	C1orf198	229046051	0.996000	0.38824	0.971000	0.41717	0.721000	0.41392	3.809000	0.55606	1.597000	0.50072	0.313000	0.20887	GGG		0.632	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		T	230979428	C	T	230979428	3	4	95	1	0	0	0	0	1	0	0	0	2026	623	22	3	392	3	C1orf198	1	230979428	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	77321947	230979428	18271193	7	6306											
OR2M3	127062	broad.mit.edu	37	chr1	248366725	248366725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttttggctgttatggCttatgaccgctacactgcca	6	16	8	11	1	1	1	0	1	1	0	1	1	1	1	2	2	2	4	2	2	3	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:248366725C>A	ENST00000456743.1	+	1	394	c.356C>A	c.(355-357)gCt>gAt	p.A119D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGTTATGGCTTATGACCGC	0.463																																						uc010pzg.2																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(355-357)gCt>gAt		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							230	234	233					1																	248366725		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366725C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.356C>A	1.37:g.248366725C>A	ENSP00000389625:p.Ala119Asp						p.A119D	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.356C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234596	0.58886	.	.	ENSG00000228198	ENST00000456743	T	0.56103	0.48	2.55	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	U	0.006763	T	0.73961	0.3654	H	0.96333	3.805	0.28118	N	0.930728	P	0.43578	0.811	P	0.55087	0.768	T	0.69734	-0.5065	10	0.87932	D	0	.	9.0676	0.36473	0.0:0.8818:0.0:0.1182	.	119	Q8NG83	OR2M3_HUMAN	D	119	ENSP00000389625:A119D	ENSP00000389625:A119D	A	+	2	0	OR2M3	246433348	0.990000	0.36364	0.420000	0.26596	0.021000	0.10359	3.014000	0.49590	0.398000	0.25338	-0.491000	0.04670	GCT		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		A	248366725	C	A	248366725	3	1	95	1	0	0	0	0	1	0	0	0	11011	797	28	5	358	5	OR2M3	1	248366725	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	17387297	248366725	883896	8	6307											
C2orf16	84226	broad.mit.edu	37	chr2	27799823	27799823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccctagaccagggcatcaGtttgcaaaatatgcagagat	14	9	9	9	0	1	2	1	0	0	2	2	3	2	2	2	1	2	4	2	1	4	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:27799823G>A	ENST00000408964.2	+	1	435	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	128						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGGGCATCAGTTTGCAAAAT	0.403																																						uc002rkz.4																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(382-384)caG>caA		Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.							71	66	68					2																	27799823		1844	4101	5945	SO:0001819	synonymous_variant	84226							g.chr2:27799823G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.384G>A	2.37:g.27799823G>A							p.Q128Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			0	435	+	Acute lymphoblastic leukemia(172;0.155)		128					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.384G>A	CCDS42666.1																																																																																				0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		A	27799823	G	A	27799823	2	1	95	1	0	0	0	0	0	0	0	1	2157	1020	36	3		3	C2orf16	2	27799823	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		27799823	215399550	9	6308											
MAP4K3	8491	broad.mit.edu	37	chr2	39560698	39560698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacatgaccattatccgtTaatagaatgttagctccctt	11	15	5	10	1	1	2	1	1	0	1	3	2	3	2	3	0	1	3	3	0	5	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:39560698T>G	ENST00000263881.3	-	7	756	c.432A>C	c.(430-432)ttA>ttC	p.L144F	MAP4K3_ENST00000437545.1_Missense_Mutation_p.L81F|MAP4K3_ENST00000341681.5_Missense_Mutation_p.L144F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATTATCCGTTAATAGAATGT	0.274																																						uc002rro.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(430-432)ttA>ttC		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.							112	115	114					2																	39560698		2202	4300	6502	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39560698T>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.432A>C	2.37:g.39560698T>G	ENSP00000263881:p.Leu144Phe					MAP4K3_uc002rrp.3_Missense_Mutation_p.L144F	p.L144F	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			6	523	-		all_hematologic(82;0.211)	144			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.432A>C	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863460	0.71949	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.70399	-0.48;-0.48;-0.48	5.96	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073693	0.56097	D	0.000030	T	0.81805	0.4900	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81614	-0.0853	9	.	.	.	.	11.9661	0.53035	0.0:0.0673:0.0:0.9327	.	144;144	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	F	144;81;144	ENSP00000263881:L144F;ENSP00000416958:L81F;ENSP00000345434:L144F	.	L	-	3	2	MAP4K3	39414202	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.606000	0.36826	1.090000	0.41315	-0.256000	0.11100	TTA		0.274	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		G	39560698	T	G	39560698	3	3	95	1	0	0	0	0	1	0	0	0	9261	1751	61	5	2364	5	MAP4K3	2	39560698	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	11760875	39560698	203638675	10	6309											
BCL11A	53335	broad.mit.edu	37	chr2	60688972	60688972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattgcagaggagggagggGgggcgtcgccaggaagggcg	8	3	24	6	3	0	1	0	0	0	1	1	5	0	5	1	8	1	1	1	8	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:60688972G>C	ENST00000335712.6	-	4	1302	c.1075C>G	c.(1075-1077)Ccc>Gcc	p.P359A	BCL11A_ENST00000538214.1_Missense_Mutation_p.P325A|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P359A|BCL11A_ENST00000358510.4_Missense_Mutation_p.P325A|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	359	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGAGGGAGGGGGGGCGTCGCC	0.632			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1075-1077)Ccc>Gcc		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							40	49	46					2																	60688972		2196	4296	6492	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688972G>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1075C>G	2.37:g.60688972G>C	ENSP00000338774:p.Pro359Ala					BCL11A_uc002sab.3_Missense_Mutation_p.P359A|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	p.P359A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	1303	-			359			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1075C>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600107	0.28534	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09817	2.94;3.15;3.17;3.09	5.74	5.74	0.90152	.	0.059266	0.64402	D	0.000002	T	0.26304	0.0642	L	0.49350	1.555	0.80722	D	1	P;B;P;P	0.50710	0.938;0.08;0.812;0.897	P;B;B;P	0.58077	0.832;0.071;0.439;0.684	T	0.00033	-1.2270	10	0.45353	T	0.12	-2.7363	19.9231	0.97094	0.0:0.0:1.0:0.0	.	325;325;359;359	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	A	359;395;325;359;325	ENSP00000349300:P359A;ENSP00000438303:P325A;ENSP00000338774:P359A;ENSP00000351307:P325A	ENSP00000338774:P359A	P	-	1	0	BCL11A	60542476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.482000	0.81143	2.717000	0.92951	0.655000	0.94253	CCC		0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		C	60688972	G	C	60688972	3	2	95	1	0	0	0	0	1	0	0	0	1363	1232	43	5	1542	5	BCL11A	2	60688972	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	21128274	60688972	182510401	11	6310											
GPR45	11250	broad.mit.edu	37	chr2	105859160	105859160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccctctgctggctgcCccactccgtctacagcctcc	3	11	6	21	1	3	0	0	0	3	0	6	0	5	0	6	1	4	2	6	1	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:105859160C>T	ENST00000258456.1	+	1	961	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCTGGCTGCCCCACTCCGTC	0.592																																						uc002tco.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(844-846)cCc>cTc		Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.							183	176	178					2																	105859160		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859160C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.845C>T	2.37:g.105859160C>T	ENSP00000258456:p.Pro282Leu						p.P282L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			0	961	+			282					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.845C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219513	0.79464	.	.	ENSG00000135973	ENST00000258456	T	0.79845	-1.31	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93370	0.6734	10	0.87932	D	0	-37.1663	17.1015	0.86651	0.0:1.0:0.0:0.0	.	282	Q9Y5Y3	GPR45_HUMAN	L	282	ENSP00000258456:P282L	ENSP00000258456:P282L	P	+	2	0	GPR45	105225592	0.998000	0.40836	0.996000	0.52242	0.874000	0.50279	3.902000	0.56310	2.365000	0.80145	0.462000	0.41574	CCC		0.592	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		T	105859160	C	T	105859160	3	4	95	1	0	0	0	0	1	0	0	0	6696	623	22	3	847	3	GPR45	2	105859160	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	45170188	105859160	137340213	12	6311											
PRRT3	285368	broad.mit.edu	37	chr3	9989638	9989638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagggggcctggactggggGtgctgggggatggctttggg	3	8	24	6	1	0	0	0	0	0	0	0	3	0	2	1	9	1	2	1	9	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr3:9989638G>A	ENST00000412055.1	-	4	1348	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	407	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGACTGGGGGTGCTGGGGGA	0.607																																						uc003bul.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(1219-1221)Ccc>Tcc		Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.							4	5	5					3																	9989638		1703	3806	5509	SO:0001583	missense	285368					integral to membrane		g.chr3:9989638G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1219C>T	3.37:g.9989638G>A	ENSP00000392511:p.Pro407Ser					CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	p.P407S	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			3	1349	-			407			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.1219C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019275	0.75275	.	.	ENSG00000163704	ENST00000412055	T	0.20200	2.09	4.89	4.89	0.63831	.	0.083358	0.45361	D	0.000363	T	0.25195	0.0612	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.17349	-1.0372	9	.	.	.	-21.8601	15.6039	0.76646	0.0:0.0:1.0:0.0	.	407	Q5FWE3	PRRT3_HUMAN	S	407	ENSP00000392511:P407S	.	P	-	1	0	PRRT3	9964638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.745000	0.62125	2.527000	0.85204	0.655000	0.94253	CCC		0.607	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		A	9989638	G	A	9989638	3	1	95	1	0	0	0	0	1	0	0	0	12611	1261	44	3	1730	3	PRRT3	3	9989638	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		9989638	188032792	13	6312											
MUC7	4589	broad.mit.edu	37	chr4	71346565	71346565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgtcacagaaggcatcAtcaccaatcacccaaatctc	15	7	4	15	1	5	1	4	0	1	1	6	1	5	1	2	1	1	1	2	1	4	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:71346565A>G	ENST00000304887.5	+	3	294	c.104A>G	c.(103-105)cAt>cGt	p.H35R	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.H35R|MUC7_ENST00000456088.1_Missense_Mutation_p.H35R	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	35					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGAAGGCATCATCACCAATCA	0.383																																						uc011cat.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(103-105)cAt>cGt		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							168	166	167					4																	71346565		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346565A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.104A>G	4.37:g.71346565A>G	ENSP00000302021:p.His35Arg					MUC7_uc011cau.2_Missense_Mutation_p.H35R|MUC7_uc003hfj.3_Missense_Mutation_p.H35R	p.H35R	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	392	+			35					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.104A>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410504	0.25465	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.52754	0.67;0.65;0.67;0.67	3.32	-2.95	0.05564	.	.	.	.	.	T	0.21387	0.0515	N	0.14661	0.345	0.09310	N	1	P	0.38020	0.615	B	0.34038	0.174	T	0.14062	-1.0486	9	0.62326	D	0.03	.	0.5588	0.00675	0.3522:0.1814:0.1128:0.3536	.	35	Q8TAX7	MUC7_HUMAN	R	35	ENSP00000407422:H35R;ENSP00000427594:H35R;ENSP00000400585:H35R;ENSP00000302021:H35R	ENSP00000302021:H35R	H	+	2	0	MUC7	71381154	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.316000	0.08071	-0.504000	0.06577	0.533000	0.62120	CAT		0.383	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		G	71346565	A	G	71346565	3	3	95	1	0	0	0	0	1	0	0	0	9981	217	8	4	110	4	MUC7	4	71346565	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		71346565	119807711	14	6313											
RASGEF1B	153020	broad.mit.edu	37	chr4	82380500	82380500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctacatctggatagtaatCcacattaggtactaagtgct	13	12	7	9	0	1	0	0	0	1	0	2	1	2	1	2	2	3	3	2	2	6	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:82380500C>A	ENST00000264400.2	-	2	314	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.D55Y|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.D55Y|RASGEF1B_ENST00000514889.1_5'Flank|RASGEF1B_ENST00000436139.2_Missense_Mutation_p.D55Y	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	55	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGATAGTAATCCACATTAGGT	0.443																																						uc003hmi.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(163-165)Gat>Tat		Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.							120	120	120					4																	82380500		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82380500C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.163G>T	4.37:g.82380500C>A	ENSP00000264400:p.Asp55Tyr					RASGEF1B_uc003hmj.1_Missense_Mutation_p.D55Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.D55Y|RASGEF1B_uc003hmk.3_Missense_Mutation_p.D55Y	p.D55Y	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			1	307	-			55			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.163G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325935	0.81580	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000436139;ENST00000395570	T;T;T;T	0.51574	0.7;0.7;1.55;0.7	5.26	5.26	0.73747	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.049353	0.85682	D	0.000000	T	0.71230	0.3315	M	0.83012	2.62	0.80722	D	1	D;D;P;P	0.67145	0.971;0.996;0.864;0.888	P;D;P;D	0.66196	0.873;0.942;0.819;0.923	T	0.75563	-0.3274	10	0.87932	D	0	.	18.643	0.91401	0.0:1.0:0.0:0.0	.	55;55;55;55	Q0VAM2-2;Q8N437;Q0VAM2-3;Q0VAM2	.;.;.;RGF1B_HUMAN	Y	55	ENSP00000425393:D55Y;ENSP00000264400:D55Y;ENSP00000338437:D55Y;ENSP00000398763:D55Y	ENSP00000264400:D55Y	D	-	1	0	RASGEF1B	82599524	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.320000	0.79064	2.742000	0.94016	0.591000	0.81541	GAT		0.443	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		A	82380500	C	A	82380500	3	1	95	1	0	0	0	0	1	0	0	0	13070	855	30	5	1310	5	RASGEF1B	4	82380500	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	11033935	82380500	108773776	15	6314											
FNIP2	57600	broad.mit.edu	37	chr4	159790265	159790265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacagcctcccacggtgCaggaggaacgggagggagga	10	2	19	10	2	0	0	0	0	0	0	1	5	1	5	2	7	3	2	2	7	1	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:159790265C>G	ENST00000264433.6	+	13	2552	c.2477C>G	c.(2476-2478)gCa>gGa	p.A826G	FNIP2_ENST00000379346.3_Missense_Mutation_p.A849G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	826	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCCACGGTGCAGGAGGAACG	0.607																																						uc003iqe.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2476-2478)gCa>gGa		Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.							61	68	66					4																	159790265		2105	4232	6337	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790265C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2477C>G	4.37:g.159790265C>G	ENSP00000264433:p.Ala826Gly						p.A826G	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	2660	+	all_hematologic(180;0.24)		826			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2477C>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042195	0.19748	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.25912	1.78;1.77	5.26	-1.11	0.09840	.	0.962356	0.08650	N	0.914157	T	0.14527	0.0351	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34625	-0.9821	9	.	.	.	.	6.8395	0.23955	0.0:0.5246:0.237:0.2384	.	826	Q9P278	FNIP2_HUMAN	G	826;849	ENSP00000264433:A826G;ENSP00000368651:A849G	.	A	+	2	0	FNIP2	160009715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.552000	0.06020	-0.157000	0.11059	-1.990000	0.00449	GCA		0.607	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159790265	C	G	159790265	3	3	95	1	0	0	0	0	1	0	0	0	5976	710	25	5	2527	5	FNIP2	4	159790265	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	77409765	159790265	31364011	16	6315											
NEK1	4750	broad.mit.edu	37	chr4	170345795	170345795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatgcgagtgagatCgaaatgcaaaggattcttct	13	11	12	5	2	2	1	0	1	2	1	3	5	2	2	0	2	2	2	0	2	4	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:170345795C>A	ENST00000439128.2	-	29	3687	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	NEK1_ENST00000511633.1_Missense_Mutation_p.R1000L|NEK1_ENST00000510533.1_Missense_Mutation_p.R972L|NEK1_ENST00000507142.1_Missense_Mutation_p.R1044L|NEK1_ENST00000512193.1_Missense_Mutation_p.R947L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1016					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CGAGTGAGATCGAAATGCAAA	0.398																																						uc003isd.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(3130-3132)cGa>cTa		Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.							105	99	101					4																	170345795		1865	4094	5959	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170345795C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3047G>T	4.37:g.170345795C>A	ENSP00000408020:p.Arg1016Leu					NEK1_uc003ise.2_Missense_Mutation_p.R1000L|NEK1_uc003isb.2_Missense_Mutation_p.R1016L|NEK1_uc003isc.2_Missense_Mutation_p.R972L|NEK1_uc003isf.2_Missense_Mutation_p.R947L	p.R1044L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	30	3709	-		Prostate(90;0.00601)|Renal(120;0.0183)	1016					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.3131G>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655580	0.67586	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.77489	-1.1;-0.98;-1.05;-1.0;-1.03	5.59	5.59	0.84812	.	0.109289	0.41194	D	0.000923	D	0.87916	0.6298	M	0.71581	2.175	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.86920	0.2066	10	0.45353	T	0.12	.	19.592	0.95518	0.0:1.0:0.0:0.0	.	947;1000;1044;972;1016	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	L	1016;1000;972;1044;947	ENSP00000408020:R1016L;ENSP00000423332:R1000L;ENSP00000427653:R972L;ENSP00000424757:R1044L;ENSP00000424938:R947L	ENSP00000408020:R1016L	R	-	2	0	NEK1	170582370	1.000000	0.71417	0.998000	0.56505	0.205000	0.24178	4.367000	0.59498	2.628000	0.89032	0.655000	0.94253	CGA		0.398	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			A	170345795	C	A	170345795	3	1	95	1	0	0	0	0	1	0	0	0	10321	884	31	5	753	5	NEK1	4	170345795	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	10555530	170345795	20808481	17	6316											
SLC9A3	6550	broad.mit.edu	37	chr5	481703	481703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgagataattgtgcccGatctgtccggatatgtcctc	7	14	9	11	2	2	1	0	1	2	1	6	4	4	2	3	1	1	0	3	1	2	3	rs200474984		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:481703G>A	ENST00000264938.3	-	9	1503	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I489I|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	498					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATTGTGCCCGATCTGTCCGG	0.582																																						uc003jbe.2																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1492-1494)atC>atT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	180	185	183		1494	-7.7	0.7	5		183	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		498/835	481703	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:481703G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1494C>T	5.37:g.481703G>A						SLC9A3_uc011clx.1_Silent_p.I489I	p.I498I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1606	-			498					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1494C>T	CCDS3855.1																																																																																				0.582	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		A	481703	G	A	481703	2	1	95	1	0	0	0	0	0	0	0	1	14713	1048	37	2		2	SLC9A3	5	481703	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		481703	180433557	18	6317											
NSUN2	54888	broad.mit.edu	37	chr5	6600309	6600309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctttccccgccatccGcataagacgatgggacactg	9	7	11	14	3	0	1	0	0	0	1	2	4	2	2	5	2	0	1	5	2	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:6600309G>A	ENST00000264670.6	-	19	2345	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	NSUN2_ENST00000539938.1_Silent_p.C442C|NSUN2_ENST00000506139.1_Silent_p.C643C	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	678					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCCGCCATCCGCATAAGACGA	0.458																																						uc003jdu.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(2032-2034)tgC>tgT		Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.							57	58	58					5																	6600309		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6600309G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2034C>T	5.37:g.6600309G>A						NSUN2_uc003jdt.3_Silent_p.C442C|NSUN2_uc011cmk.2_Silent_p.C643C|NSUN2_uc003jdv.3_Silent_p.C442C	p.C678C	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			18	2415	-			678					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.2034C>T	CCDS3869.1																																																																																				0.458	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		A	6600309	G	A	6600309	2	1	95	1	0	0	0	0	0	0	0	1	10678	1079	38	1		1	NSUN2	5	6600309	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	6118606	6600309	174314951	19	6318											
MYO10	4651	broad.mit.edu	37	chr5	16668401	16668401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacctcactggtttcaaaGagcagctccctctcatcgac	9	11	6	15	1	3	1	3	0	1	1	6	2	4	1	2	1	3	3	2	1	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:16668401G>A	ENST00000513610.1	-	40	6514	c.6060C>T	c.(6058-6060)ctC>ctT	p.L2020L	MYO10_ENST00000427430.2_Silent_p.L1377L|MYO10_ENST00000274203.9_Silent_p.L1377L|MYO10_ENST00000505695.1_Silent_p.L1359L|MYO10_ENST00000515803.1_Silent_p.L1359L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2020	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTTTCAAAGAGCAGCTCCC	0.463																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(6058-6060)ctC>ctT		Homo sapiens myosin X (MYO10), mRNA.							155	156	156					5																	16668401		1967	4164	6131	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668401G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6060C>T	5.37:g.16668401G>A						MYO10_uc011cnb.2_Silent_p.L649L|MYO10_uc011cnc.2_Silent_p.L899L|MYO10_uc011cnd.2_Silent_p.L1377L|MYO10_uc011cne.2_Silent_p.L1377L|MYO10_uc010itx.3_Silent_p.L1642L	p.L2020L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			39	6528	-			2020			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.6060C>T	CCDS54834.1																																																																																				0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		A	16668401	G	A	16668401	2	1	95	1	0	0	0	0	0	0	0	1	10062	929	33	3		3	MYO10	5	16668401	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	10068092	16668401	164246859	20	6319											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726579	25726579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaaggatttctgctgtGagatactctaacactgccgc	10	11	9	11	1	3	1	1	1	2	1	3	3	3	2	1	1	5	2	1	1	3	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:25726579G>T	ENST00000297012.3	-	1	211	c.177C>A	c.(175-177)ctC>ctA	p.L59L	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCTGCTGTGAGATACTCTA	0.537																																						uc003nfc.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(175-177)ctC>ctA		Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.							311	240	264					6																	25726579		2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726579G>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.177C>A	6.37:g.25726579G>T						HIST1H2BA_uc003nfd.3_5'Flank	p.L59L	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			0	212	-			59						Silent	SNP	ENST00000297012.3	37	c.177C>A	CCDS4562.1																																																																																				0.537	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		T	25726579	G	T	25726579	2	4	95	1	0	0	0	0	0	0	0	1	7128	1277	45	5		5	HIST1H2AA	6	25726579	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		25726579	145388488	21	6320											
PSMB8	5696	broad.mit.edu	37	chr6	32811722	32811722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcccgcaaccgggagagCcgattccggccgctgccctc	5	6	12	18	5	0	1	0	0	0	1	3	3	2	1	6	2	3	3	6	2	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:32811722C>T	ENST00000374882.3	-	1	102	c.52G>A	c.(52-54)Gct>Act	p.A18T	PSMB8_ENST00000395339.3_Missense_Mutation_p.A18T|PSMB8_ENST00000374881.2_Intron|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	ACCGGGAGAGCCGATTCCGGC	0.637																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						c.(52-54)Gct>Act		Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.							66	87	79					6																	32811722		1510	2708	4218	SO:0001583	missense	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32811722C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.52G>A	6.37:g.32811722C>T	ENSP00000364016:p.Ala18Thr					PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Missense_Mutation_p.A18T|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	p.A18T	NM_148919	NP_683720	P28062	PSB8_HUMAN			0	95	-			18					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.52G>A	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	6.385	0.439108	0.12104	.	.	ENSG00000204264	ENST00000395339;ENST00000374882	T;T	0.38887	1.11;1.79	5.01	3.06	0.35304	.	0.563371	0.19237	N	0.119263	T	0.13884	0.0336	L	0.51422	1.61	0.80722	D	1	P;B	0.35272	0.493;0.014	B;B	0.29942	0.109;0.01	T	0.04664	-1.0935	10	0.13853	T	0.58	-10.2538	6.2089	0.20617	0.0:0.7108:0.1891:0.1001	.	18;18	B7Z6U7;P28062	.;PSB8_HUMAN	T	18	ENSP00000378748:A18T;ENSP00000364016:A18T	ENSP00000364016:A18T	A	-	1	0	PSMB8	32919700	0.561000	0.26578	0.925000	0.36789	0.116000	0.19942	0.735000	0.26115	1.420000	0.47138	0.643000	0.83706	GCT		0.637	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		T	32811722	C	T	32811722	3	4	95	1	0	0	0	0	1	0	0	0	12683	739	26	3	802	3	PSMB8	6	32811722	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	7085143	32811722	138303345	22	6321											
SCUBE3	222663	broad.mit.edu	37	chr6	35210070	35210072	+	In_Frame_Del	DEL	GAG	GAG	-																															tgcgaaacaaaggcaaaacaGaggaggctggcagaatcaca																										TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:35210070_35210072delGAG	ENST00000274938.7	+	13	1507_1509	c.1507_1509delGAG	c.(1507-1509)gagdel	p.E504del	SCUBE3_ENST00000394681.1_In_Frame_Del_p.E520del	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCAAAACAGAGGAGGCTGGCA	0.547																																						uc003okf.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(1507-1509)gagdel		Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.																																				SO:0001651	inframe_deletion	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35210070_35210072delGAG	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1507_1509delGAG	6.37:g.35210073_35210075delGAG	ENSP00000274938:p.Glu504del					SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del	p.E504del	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			12	1513_1515	+			504						In_Frame_Del	DEL	ENST00000274938.7	37	c.1507_1509delGAG	CCDS4800.1																																																																																				0.547	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		-	35210072	GAG	-	35210070	7	5	95	1	0	1	0	1	0	0	0	0	13946	943	33	0	1557	0	SCUBE3	6	35210070	In_Frame_Del	DEL	GAG	TCGA-06-5856-01A-01D-1696-08	2398348	35210070	135904997	23	6322											
CPVL	54504	broad.mit.edu	37	chr7	29152433	29152433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggccgaccaaactcaattCtcttcctagtgggggaaaaa	13	8	10	10	1	2	0	1	0	1	0	4	2	3	1	3	3	1	0	3	3	5	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:29152433C>T	ENST00000409850.1	-	7	821	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Missense_Mutation_p.E59K|CPVL_ENST00000396276.3_Missense_Mutation_p.E59K			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	59						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAACTCAATTCTCTTCCTAGT	0.418																																						uc003szv.3																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(175-177)Gaa>Aaa		Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.							63	62	62					7																	29152433		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29152433C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.175G>A	7.37:g.29152433C>T	ENSP00000387164:p.Glu59Lys					CPVL_uc003szw.3_Missense_Mutation_p.E59K|CPVL_uc003szx.3_Missense_Mutation_p.E59K	p.E59K	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			2	294	-			59					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.175G>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	2.996	-0.207072	0.06180	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850	T;T;T	0.13657	2.57;2.57;2.57	5.61	1.27	0.21489	.	0.907132	0.09454	N	0.800036	T	0.05090	0.0136	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41998	-0.9477	10	0.06099	T	0.92	0.0	7.3448	0.26658	0.0:0.3256:0.4782:0.1962	.	59	Q9H3G5	CPVL_HUMAN	K	59	ENSP00000265394:E59K;ENSP00000379572:E59K;ENSP00000387164:E59K	ENSP00000265394:E59K	E	-	1	0	CPVL	29118958	0.004000	0.15560	0.003000	0.11579	0.036000	0.12997	0.168000	0.16622	0.214000	0.20742	0.561000	0.74099	GAA		0.418	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		T	29152433	C	T	29152433	3	4	95	1	0	0	0	0	1	0	0	0	3835	922	32	3	1299	3	CPVL	7	29152433	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		29152433	129986230	24	6323											
MYO1G	64005	broad.mit.edu	37	chr7	45016656	45016656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgatgtaggtgtagatgCggcccttctcgaacctggac	8	9	12	12	3	1	1	0	0	1	1	2	4	1	2	3	3	2	2	3	3	3	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:45016656C>T	ENST00000258787.7	-	2	246	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	37	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTGTAGATGCGGCCCTTCTC	0.637																																						uc003tmh.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(109-111)cGc>cAc		Homo sapiens myosin IG (MYO1G), mRNA.							58	54	56					7																	45016656		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45016656C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.110G>A	7.37:g.45016656C>T	ENSP00000258787:p.Arg37His					MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	p.R37H	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			1	254	-			37			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.110G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518945	0.44866	.	.	ENSG00000136286	ENST00000258787	T	0.71698	-0.59	3.93	2.02	0.26589	Myosin head, motor domain (2);	0.000000	0.37437	N	0.002082	T	0.68485	0.3006	N	0.25789	0.76	0.49389	D	0.999789	D	0.69078	0.997	D	0.63283	0.913	T	0.66614	-0.5879	10	0.59425	D	0.04	.	7.4484	0.27223	0.1644:0.744:0.0:0.0915	.	37	B0I1T2	MYO1G_HUMAN	H	37	ENSP00000258787:R37H	ENSP00000258787:R37H	R	-	2	0	MYO1G	44983181	0.978000	0.34361	0.998000	0.56505	0.791000	0.44710	2.517000	0.45529	0.402000	0.25451	0.655000	0.94253	CGC		0.637	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			T	45016656	C	T	45016656	3	4	95	1	0	0	0	0	1	0	0	0	10074	768	27	1	3030	1	MYO1G	7	45016656	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	15864223	45016656	114122007	25	6324											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	95	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	10205166	55221822	103916841	26	6325											
POM121	9883	broad.mit.edu	37	chr7	72413475	72413475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgaggggcagccaccgggGgccgccaagccggcccttgc	5	3	17	16	3	0	1	0	1	0	0	0	1	0	1	6	5	3	2	6	5	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:72413475G>A	ENST00000434423.2	+	11	2943	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	POM121_ENST00000257622.4_Silent_p.G716G|POM121_ENST00000395270.1_Silent_p.G716G|POM121_ENST00000358357.3_Silent_p.G716G|POM121_ENST00000446813.1_Silent_p.G716G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	981	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCCACCGGGGGCCGCCAAGC	0.652																																						uc003twk.2																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2941-2943)ggG>ggA		Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.							29	40	36					7																	72413475		2198	4294	6492	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413475G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2943G>A	7.37:g.72413475G>A						POM121_uc003twj.3_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	p.G981G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			10	2943	+		Lung NSC(55;0.163)	981			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2943G>A																																																																																					0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72413475	G	A	72413475	2	1	95	1	0	0	0	0	0	0	0	1	12239	1219	43	3		3	POM121	7	72413475	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	17191653	72413475	86725188	27	6326											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138719356	138719356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttttcattgagaccaaaaAgtccatggcttttcaggacc	11	12	9	9	0	2	1	2	1	0	1	3	3	3	2	3	3	0	2	3	3	2	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:138719356A>G	ENST00000275766.1	-	2	445	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	145										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GAGACCAAAAAGTCCATGGCT	0.483																																						uc003vum.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(433-435)cTt>cCt		Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.							124	117	119					7																	138719356		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138719356A>G	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 39"	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.434T>C	7.37:g.138719356A>G	ENSP00000275766:p.Leu145Pro						p.L145P	NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN			1	446	-			145					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.434T>C	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439383	0.63067	.	.	ENSG00000146858	ENST00000275766	T	0.47528	0.84	5.65	5.65	0.86999	.	0.316472	0.22985	N	0.053267	T	0.67230	0.2871	M	0.76727	2.345	0.23198	N	0.998134	D	0.76494	0.999	D	0.74023	0.982	T	0.63070	-0.6719	10	0.87932	D	0	.	12.5675	0.56318	1.0:0.0:0.0:0.0	.	145	Q96H79	ZCCHL_HUMAN	P	145	ENSP00000275766:L145P	ENSP00000275766:L145P	L	-	2	0	ZC3HAV1L	138369896	0.215000	0.23574	0.032000	0.17829	0.963000	0.63663	5.260000	0.65490	2.281000	0.76405	0.528000	0.53228	CTT		0.483	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		G	138719356	A	G	138719356	3	3	95	1	0	0	0	0	1	0	0	0	17573	72	3	4	484	4	ZC3HAV1L	7	138719356	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	66305881	138719356	20419307	28	6327											
RP1L1	94137	broad.mit.edu	37	chr8	10467546	10467546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaatttcctctaactgCgcctcttcttcttgctgtcc	4	18	4	15	1	6	0	1	0	5	0	8	0	8	0	3	0	3	1	3	0	2	6	rs375108865		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr8:10467546C>T	ENST00000382483.3	-	4	4285	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1384	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A1354A(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cctctaactgcgcctcttctt	0.478																																						uc003wtc.3																			1	Substitution - coding silent(1)	p.A1354A(2)	upper_aerodigestive_tract(1)	breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(4060-4062)gcG>gcA		Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.		C		1,3867		0,1,1933	95	97	96		4062	-1.9	0	8		96	0,8240		0,0,4120	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6053	TT,TC,CC		0.0,0.0259,0.0083		1354/2401	10467546	1,12107	1934	4120	6054	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10467546C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4062G>A	8.37:g.10467546C>T							p.A1354A	NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	4291	-			1354					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.4062G>A	CCDS43708.1																																																																																				0.478	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10467546	C	T	10467546	2	4	95	1	0	0	0	0	0	0	0	1	13533	755	27	1		1	RP1L1	8	10467546	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		10467546	135896476	29	6328											
CDC37L1	55664	broad.mit.edu	37	chr9	4679887	4679887	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcccgcagctgccaggCggcggcgcccaggtgagaag	6	3	17	15	5	0	1	0	1	0	1	0	2	0	1	3	4	3	3	3	4	1	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:4679887C>G	ENST00000381854.3	+	1	322	c.120C>G	c.(118-120)ggC>ggG	p.G40G	RP11-6J24.6_ENST00000607997.1_lincRNA|CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Silent_p.G40G	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	40	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGCTGCCAGGCGGCGGCGCCC	0.682											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zio.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(118-120)ggC>ggG		Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.							32	38	36					9																	4679887		2200	4298	6498	SO:0001819	synonymous_variant	55664					cytoplasm		g.chr9:4679887C>G	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.120C>G	9.37:g.4679887C>G			OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620		p.G40G	NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	0	322	+	all_hematologic(13;0.137)	Breast(48;0.238)	40			Self-association.		B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	c.120C>G	CCDS6454.1																																																																																				0.682	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		G	4679887	C	G	4679887	2	3	95	1	0	0	0	0	0	0	0	1	3069	755	27	5		5	CDC37L1	9	4679887	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		4679887	136533544	30	6329											
KIAA2026	158358	broad.mit.edu	37	chr9	5922764	5922764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacagagctattttgaaGatctattggcaaccactggc	11	13	8	9	0	1	3	0	1	1	2	1	3	1	3	1	2	3	2	1	2	5	7			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:5922764G>T	ENST00000399933.3	-	8	3231	c.3232C>A	c.(3232-3234)Ctt>Att	p.L1078I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1048I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1078										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTATTTTGAAGATCTATTGGC	0.418																																						uc003zjq.4																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(3232-3234)Ctt>Att		Homo sapiens KIAA2026 (KIAA2026), mRNA.							124	113	116					9																	5922764		1877	4108	5985	SO:0001583	missense	158358							g.chr9:5922764G>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3232C>A	9.37:g.5922764G>T	ENSP00000382815:p.Leu1078Ile					KIAA2026_uc010mht.3_Missense_Mutation_p.L253I	p.L1078I	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	7	3448	-		Acute lymphoblastic leukemia(23;0.158)	1078					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.3232C>A		.	.	.	.	.	.	.	.	.	.	G	9.716	1.158441	0.21454	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.33	5.33	0.75918	.	0.122356	0.35739	N	0.003013	T	0.21103	0.0508	N	0.19112	0.55	0.24537	N	0.994084	P	0.38597	0.639	B	0.30029	0.11	T	0.23868	-1.0176	9	0.59425	D	0.04	-9.2035	11.0997	0.48166	0.0:0.1378:0.7194:0.1428	.	1078	Q5HYC2	K2026_HUMAN	I	1078;1048	.	ENSP00000370870:L1048I	L	-	1	0	KIAA2026	5912764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.571000	0.36450	2.482000	0.83794	0.561000	0.74099	CTT		0.418	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		T	5922764	G	T	5922764	3	4	95	1	0	0	0	0	1	0	0	0	8270	942	33	5	3083	5	KIAA2026	9	5922764	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	1242877	5922764	135290667	31	6330											
C9orf131	138724	broad.mit.edu	37	chr9	35044886	35044886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacccaagggagtaacgTgcccaggggttaaggcagag	11	6	15	9	1	1	1	0	0	1	1	1	2	1	2	2	4	3	3	2	4	4	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:35044886T>C	ENST00000312292.5	+	2	2307	c.2260T>C	c.(2260-2262)Tgc>Cgc	p.C754R	C9orf131_ENST00000421362.2_Missense_Mutation_p.C706R|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.C681R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	754										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGAGTAACGTGCCCAGGGGT	0.587																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2260-2262)Tgc>Cgc		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							88	89	88					9																	35044886		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044886T>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2260T>C	9.37:g.35044886T>C	ENSP00000308279:p.Cys754Arg					C9orf131_uc003zvu.3_Missense_Mutation_p.C706R|C9orf131_uc003zvv.3_Missense_Mutation_p.C681R|C9orf131_uc003zvx.3_Missense_Mutation_p.C719R	p.C754R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	2289	+	all_epithelial(49;0.22)		754					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2260T>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619809	0.28801	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14391	2.51;2.51;2.51	4.4	-5.21	0.02815	.	1.445350	0.04518	N	0.384015	T	0.09158	0.0226	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.22080	0.064;0.064;0.064;0.064	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.31280	-0.9949	10	0.25751	T	0.34	1.6274	1.7256	0.02921	0.1355:0.3451:0.2762:0.2432	.	229;754;681;706	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	R	706;681;754;229	ENSP00000393683:C706R;ENSP00000346472:C681R;ENSP00000308279:C754R	ENSP00000308279:C754R	C	+	1	0	C9orf131	35034886	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.179000	0.09768	-0.954000	0.03640	0.533000	0.62120	TGC		0.587	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		C	35044886	T	C	35044886	3	2	95	1	0	0	0	0	1	0	0	0	2457	1696	59	4	2282	4	C9orf131	9	35044886	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	29122122	35044886	106168545	32	6331											
FBP1	2203	broad.mit.edu	37	chr9	97380079	97380079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaaaaatggttccaaCggacacaaggcaatcgatgt	15	7	10	9	2	0	0	0	0	0	0	2	3	1	1	2	3	2	2	2	3	5	1	rs368583779		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:97380079C>T	ENST00000375326.4	-	3	593	c.397G>A	c.(397-399)Gtt>Att	p.V133I	FBP1_ENST00000415431.1_Missense_Mutation_p.V133I	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	133					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGGTTCCAACGGACACAAGG	0.388																																					Ovarian(142;590 2466 25593 44496)	uc004auw.4																			0				kidney(1)|liver(1)|lung(1)	3						c.(397-399)Gtt>Att		Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)	T	ILE/VAL,ILE/VAL	0,4406		0,0,2203	98	82	87		397,397	6	1	9		87	1,8599	819.2+/-406.8	0,1,4299	no	missense,missense	FBP1	NM_000507.3,NM_001127628.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	133/339,133/339	97380079	1,13005	2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380079C>T	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.397G>A	9.37:g.97380079C>T	ENSP00000364475:p.Val133Ile					FBP1_uc010mrl.3_Missense_Mutation_p.V133I	p.V133I	NM_000507	NP_001121100	P09467	F16P1_HUMAN			2	728	-		Acute lymphoblastic leukemia(62;0.136)	133					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.397G>A	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298078	0.23650	0.0	1.16E-4	ENSG00000165140	ENST00000375326;ENST00000415431;ENST00000414122	T;T;T	0.77358	-1.09;-1.09;-1.09	6.01	6.01	0.97437	.	0.000000	0.85682	N	0.000000	T	0.53270	0.1786	N	0.04387	-0.21	0.24235	N	0.99538	B	0.02656	0.0	B	0.04013	0.001	T	0.34925	-0.9809	10	0.02654	T	1	-14.0541	12.3109	0.54927	0.0:0.0657:0.0:0.9343	.	133	P09467	F16P1_HUMAN	I	133;133;49	ENSP00000364475:V133I;ENSP00000408025:V133I;ENSP00000411619:V49I	ENSP00000364475:V133I	V	-	1	0	FBP1	96419900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.016000	0.64041	1.102000	0.41551	-0.269000	0.10298	GTT		0.388	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		T	97380079	C	T	97380079	3	4	95	1	0	0	0	0	1	0	0	0	5705	536	19	1	639	1	FBP1	9	97380079	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	62335193	97380079	43833352	33	6332											
CDHR1	92211	broad.mit.edu	37	chr10	85962739	85962739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgattcttctgcaggatGgcggtgggaggcttcatggg	5	11	16	9	2	3	0	1	0	2	0	4	3	4	2	1	6	1	2	1	6	0	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr10:85962739G>T	ENST00000372117.3	+	8	746	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CDHR1_ENST00000332904.3_Missense_Mutation_p.G215C|CDHR1_ENST00000440770.2_5'UTR	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCTGCAGGATGGCGGTGGGAG	0.557																																						uc001kcv.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(643-645)Ggc>Tgc		Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.							147	125	132					10																	85962739		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85962739G>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.643G>T	10.37:g.85962739G>T	ENSP00000361189:p.Gly215Cys					CDHR1_uc001kcw.3_Missense_Mutation_p.G215C|CDHR1_uc009xst.3_5'UTR	p.G215C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			7	748	+			215			Cadherin 2.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.643G>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131917	0.77662	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.01821	4.62;4.62	4.85	4.85	0.62838	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00710	-1.1599	10	0.48119	T	0.1	-20.1818	16.8983	0.86106	0.0:0.0:1.0:0.0	.	215;215	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	C	215	ENSP00000331063:G215C;ENSP00000361189:G215C	ENSP00000331063:G215C	G	+	1	0	CDHR1	85952719	1.000000	0.71417	0.965000	0.40720	0.726000	0.41606	9.235000	0.95353	2.514000	0.84764	0.561000	0.74099	GGC		0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		T	85962739	G	T	85962739	3	4	95	1	0	0	0	0	1	0	0	0	3118	1348	47	5	673	5	CDHR1	10	85962739	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		85962739	49572008	34	6333											
AHNAK	79026	broad.mit.edu	37	chr11	62286891	62286891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcagctctgcctcaggaaCagtgacatccagtgaaggtg	10	9	12	10	0	3	2	2	2	1	0	4	3	4	3	2	2	3	2	2	2	2	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:62286891C>G	ENST00000378024.4	-	5	15272	c.14998G>C	c.(14998-15000)Gtt>Ctt	p.V5000L	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5000					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTCAGGAACAGTGACATCC	0.433																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14998-15000)Gtt>Ctt		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							106	112	110					11																	62286891		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286891C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14998G>C	11.37:g.62286891C>G	ENSP00000367263:p.Val5000Leu					AHNAK_uc001ntk.1_Intron	p.V5000L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	15298	-		Melanoma(852;0.155)	5000					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14998G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	7.001	0.554791	0.13436	.	.	ENSG00000124942	ENST00000378024	T	0.00587	6.38	4.48	2.56	0.30785	.	0.467337	0.15773	N	0.245326	T	0.00724	0.0024	L	0.41236	1.265	0.26990	N	0.965162	P	0.37276	0.589	P	0.47346	0.544	T	0.44862	-0.9300	10	0.22109	T	0.4	.	2.1641	0.03833	0.1448:0.4059:0.2819:0.1674	.	5000	Q09666	AHNK_HUMAN	L	5000	ENSP00000367263:V5000L	ENSP00000367263:V5000L	V	-	1	0	AHNAK	62043467	0.000000	0.05858	0.997000	0.53966	0.986000	0.74619	-0.240000	0.08952	0.436000	0.26393	0.549000	0.68633	GTT		0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62286891	C	G	62286891	3	3	95	1	0	0	0	0	1	0	0	0	414	478	17	5	2794	5	AHNAK	11	62286891	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		62286891	72719625	35	6334											
MTMR2	8898	broad.mit.edu	37	chr11	95580911	95580911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaatgagtagattccaaGttagacaaccagtgggtttc	13	10	10	8	0	0	3	0	1	0	2	2	3	1	3	3	1	2	3	3	1	5	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:95580911G>A	ENST00000346299.5	-	10	1486	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	MTMR2_ENST00000352297.7_Silent_p.N310N|MTMR2_ENST00000409459.1_Silent_p.N310N|MTMR2_ENST00000393223.3_Silent_p.N310N|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	382	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGATTCCAAGTTAGACAACC	0.368																																						uc001pfu.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1144-1146)aaC>aaT		Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.							128	130	129					11																	95580911		2201	4298	6499	SO:0001819	synonymous_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95580911G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1146C>T	11.37:g.95580911G>A						MTMR2_uc001pfv.3_Silent_p.N310N|MTMR2_uc001pfs.3_Silent_p.N310N|MTMR2_uc001pft.3_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	p.N382N	NM_016156	NP_958438	Q13614	MTMR2_HUMAN			9	1399	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	382			Myotubularin phosphatase.		A6NN98|Q9UPS9	Silent	SNP	ENST00000346299.5	37	c.1146C>T	CCDS8305.1																																																																																				0.368	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		A	95580911	G	A	95580911	2	1	95	1	0	0	0	0	0	0	0	1	9944	1020	36	3		3	MTMR2	11	95580911	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	33294020	95580911	39425605	36	6335											
SCN3B	55800	broad.mit.edu	37	chr11	123513193	123513193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcagccgcgtcgtctTcacaaagggccgatgcgcct	7	7	14	13	5	3	0	2	0	1	0	4	2	3	1	3	3	2	0	3	3	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:123513193T>C	ENST00000392770.2	-	3	1208	c.406A>G	c.(406-408)Aag>Gag	p.K136E	SCN3B_ENST00000530277.1_Missense_Mutation_p.K136E|SCN3B_ENST00000299333.3_Missense_Mutation_p.K136E	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	136	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCGTCGTCTTCACAAAGGGC	0.592																																						uc001pza.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(406-408)Aag>Gag		Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.							83	77	79					11																	123513193		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513193T>C	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.406A>G	11.37:g.123513193T>C	ENSP00000376523:p.Lys136Glu					SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	p.K136E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	813	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.406A>G	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654929	0.29425	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.362807	0.34484	N	0.003921	T	0.43166	0.1235	N	0.22421	0.69	0.28885	N	0.894153	B	0.11235	0.004	B	0.08055	0.003	T	0.28713	-1.0035	10	0.02654	T	1	-4.531	12.326	0.55011	0.0:0.0:0.2588:0.7412	.	136	Q9NY72	SCN3B_HUMAN	E	136	ENSP00000376523:K136E;ENSP00000299333:K136E;ENSP00000432785:K136E;ENSP00000435554:K136E	ENSP00000299333:K136E	K	-	1	0	SCN3B	123018403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.831000	0.39141	2.302000	0.77476	0.533000	0.62120	AAG		0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		C	123513193	T	C	123513193	3	2	95	1	0	0	0	0	1	0	0	0	13919	1792	62	4	253	4	SCN3B	11	123513193	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	27932282	123513193	11493323	37	6336											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788105	3788105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacaccttttgggctccaAgtctgtccatcagcatccgg	8	10	8	15	1	2	0	1	0	1	0	5	0	5	0	5	2	2	2	5	2	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:3788105A>G	ENST00000252322.1	-	6	968	c.500T>C	c.(499-501)cTt>cCt	p.L167P	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.L167P|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.L167P	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		167					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGGCTCCAAGTCTGTCCAT	0.517																																						uc010sen.1																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(499-501)cTt>cCt		Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.							202	163	176					12																	3788105		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788105A>G																												ENST00000252322.1:c.500T>C	12.37:g.3788105A>G	ENSP00000252322:p.Leu167Pro					EFCAB4B_uc001qmj.2_Missense_Mutation_p.L167P	p.L167P	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		5	1072	-			167					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.500T>C	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003282	0.74932	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.70631	-0.5;1.91;1.94	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	D	0.84097	0.5397	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.98	D	0.86296	0.1677	10	0.87932	D	0	-9.3894	10.9292	0.47207	1.0:0.0:0.0:0.0	.	167;167;167	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	P	167	ENSP00000409382:L167P;ENSP00000412496:L167P;ENSP00000252322:L167P	ENSP00000252322:L167P	L	-	2	0	EFCAB4B	3658366	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	8.216000	0.89764	1.837000	0.53436	0.459000	0.35465	CTT		0.517	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			G	3788105	A	G	3788105	3	3	95	1	0	0	0	0	1	0	0	0	4937	72	3	4	1947	4	EFCAB4B	12	3788105	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		3788105	130063790	38	6337											
NDUFA9	4704	broad.mit.edu	37	chr12	4771765	4771765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtaaagccgtcggacatcTttggaagagaggatagattc	12	10	12	7	3	1	2	0	0	1	2	4	6	1	5	1	3	1	1	1	3	4	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:4771765T>C	ENST00000266544.5	+	6	639	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	207					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTCGGACATCTTTGGAAGAGA	0.393																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(619-621)Ttt>Ctt		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						171	163	166					12																	4771765		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771765T>C	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.619T>C	12.37:g.4771765T>C	ENSP00000266544:p.Phe207Leu					NDUFA9_uc009zei.2_Missense_Mutation_p.F207L|NDUFA9_uc010ses.2_5'UTR	p.F207L	NM_005002	NP_004993	Q16795	NDUA9_HUMAN			5	648	+			207					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.619T>C	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	T	34	5.308090	0.95629	.	.	ENSG00000139180	ENST00000266544	D	0.93488	-3.23	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.046488	0.85682	D	0.000000	D	0.96996	0.9019	M	0.92970	3.365	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62014	0.897;0.897	D	0.97814	1.0252	10	0.72032	D	0.01	-12.3884	14.2559	0.66051	0.0:0.0:0.0:1.0	.	207;207	A8K4V2;Q16795	.;NDUA9_HUMAN	L	207	ENSP00000266544:F207L	ENSP00000266544:F207L	F	+	1	0	NDUFA9	4642026	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.587000	0.82613	2.047000	0.60756	0.454000	0.30748	TTT		0.393	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		C	4771765	T	C	4771765	3	2	95	1	0	0	0	0	1	0	0	0	10272	1609	56	4	641	4	NDUFA9	12	4771765	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	983660	4771765	129080130	39	6338											
PLEKHA5	54477	broad.mit.edu	37	chr12	19285373	19285373	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacttttgaaggtgcaagAtactatataaagtgagtttt	14	16	8	3	0	0	3	0	2	0	1	0	3	0	3	0	1	3	2	0	1	9	10			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:19285373A>T	ENST00000299275.6	+	3	222	c.216A>T	c.(214-216)agA>agT	p.R72S	PLEKHA5_ENST00000538714.1_Missense_Mutation_p.R72S|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.R72S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R72S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R72S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R72S|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R72S|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R72S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	72	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGTGCAAGATACTATATAA	0.313																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(214-216)agA>agT		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.							139	139	139					12																	19285373		2203	4298	6501	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19285373A>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.216A>T	12.37:g.19285373A>T	ENSP00000299275:p.Arg72Ser					PLEKHA5_uc010sie.2_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.3_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc001rdz.4_Missense_Mutation_p.R72S	p.R72S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			2	324	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		72			WW 2.		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.216A>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366667	0.24771	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000540972;ENST00000429027;ENST00000299275;ENST00000538714	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.8	4.8	0.61643	WW/Rsp5/WWP (3);	1.027020	0.07707	N	0.941447	D	0.85217	0.5646	N	0.21583	0.68	0.80722	D	1	D;B;B	0.62365	0.991;0.021;0.017	D;B;B	0.78314	0.991;0.023;0.008	T	0.75926	-0.3145	10	0.27082	T	0.32	0.0309	12.1178	0.53875	1.0:0.0:0.0:0.0	.	72;72;72	B4DHK5;Q9HAU0;Q9HAU0-2	.;PKHA5_HUMAN;.	S	72	ENSP00000325155:R72S;ENSP00000347560:R72S;ENSP00000352104:R72S;ENSP00000311239:R72S;ENSP00000404296:R72S;ENSP00000299275:R72S;ENSP00000439673:R72S	ENSP00000299275:R72S	R	+	3	2	PLEKHA5	19176640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.445000	0.35079	2.145000	0.66743	0.455000	0.32223	AGA		0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		T	19285373	A	T	19285373	3	4	95	1	0	0	0	0	1	0	0	0	12059	330	12	5	226	5	PLEKHA5	12	19285373	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	14513608	19285373	114566522	40	6339											
H3F3C	440093	broad.mit.edu	37	chr12	31944878	31944878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgttgaaatcctgcgCgatctccctcaccaacctct	8	11	7	15	2	4	1	2	1	2	0	6	2	5	1	4	0	2	1	4	0	2	1	rs141415515		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:31944878C>T	ENST00000340398.3	-	1	297	c.223G>A	c.(223-225)Gcg>Acg	p.A75T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	75					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AAATCCTGCGCGATCTCCCTC	0.587										HNSCC(67;0.2)			C|||	1	0.000199681	8e-04	0	5008	,	,		20326	0		0	False		,,,				2504	0					uc001rkr.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(223-225)Gcg>Acg		Homo sapiens H3 histone, family 3C (H3F3C), mRNA.							110	102	104					12																	31944878		2203	4300	6503	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944878C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.223G>A	12.37:g.31944878C>T	ENSP00000339835:p.Ala75Thr	HNSCC(67;0.2)					p.A75T	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			0	298	-			75					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.223G>A	CCDS31769.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.71	1.719030	0.30503	.	.	ENSG00000188375	ENST00000340398	T	0.44482	0.92	1.3	-1.1	0.09872	Histone-fold (2);Histone core (1);	0.259161	0.23450	U	0.048043	T	0.34600	0.0903	M	0.72479	2.2	0.29003	N	0.887351	P	0.40834	0.73	B	0.37047	0.24	T	0.31558	-0.9939	10	0.87932	D	0	.	5.9206	0.19080	0.0:0.6668:0.0:0.3332	.	75	Q6NXT2	H3C_HUMAN	T	75	ENSP00000339835:A75T	ENSP00000339835:A75T	A	-	1	0	H3F3C	31836145	1.000000	0.71417	0.037000	0.18230	0.206000	0.24218	5.362000	0.66098	-0.309000	0.08779	0.413000	0.27773	GCG		0.587	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		T	31944878	C	T	31944878	3	4	95	1	0	0	0	0	1	0	0	0	6935	768	27	1	188	1	H3F3C	12	31944878	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	12659505	31944878	101907017	41	6340											
OR6C75	390323	broad.mit.edu	37	chr12	55759176	55759176	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaccatttcttataatggGtgtgtggctcagctattttt	9	17	9	6	0	2	1	1	0	1	1	2	1	2	1	1	2	2	2	1	2	4	6	rs113253007		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:55759176G>T	ENST00000343399.3	+	1	282	c.282G>T	c.(280-282)ggG>ggT	p.G94G		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTATAATGGGTGTGTGGCTC	0.448																																						uc010spk.2																			0		p.G94W(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(280-282)ggG>ggT		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							133	127	129					12																	55759176		2203	4300	6503	SO:0001819	synonymous_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759176G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.282G>T	12.37:g.55759176G>T							p.G94G	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			0	282	+			94						Silent	SNP	ENST00000343399.3	37	c.282G>T	CCDS31820.1																																																																																				0.448	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			T	55759176	G	T	55759176	2	4	95	1	0	0	0	0	0	0	0	1	11199	1248	44	5		5	OR6C75	12	55759176	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	23814298	55759176	78092719	42	6341											
SMARCC2	6601	broad.mit.edu	37	chr12	56578637	56578637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccatttacctggtgtctCttgataatgtcctttaattt	9	18	6	8	0	1	2	0	1	1	1	3	2	2	2	3	1	1	0	3	1	3	7			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:56578637C>G	ENST00000267064.4	-	5	569	c.483G>C	c.(481-483)aaG>aaC	p.K161N	SMARCC2_ENST00000394023.3_Missense_Mutation_p.K161N|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K161N|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K161N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	161					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTGGTGTCTCTTGATAATGT	0.418																																						uc001skb.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(481-483)aaG>aaC		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.							148	132	137					12																	56578637		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56578637C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.483G>C	12.37:g.56578637C>G	ENSP00000267064:p.Lys161Asn					SMARCC2_uc001skd.3_Missense_Mutation_p.K161N|SMARCC2_uc001ska.3_Missense_Mutation_p.K161N|SMARCC2_uc001skc.3_Missense_Mutation_p.K161N|SMARCC2_uc010sqf.2_Missense_Mutation_p.K50N	p.K161N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		4	589	-			161					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.483G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899547	0.72754	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.85	2.99	0.34606	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.73217	2.22	0.39565	D	0.969198	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999	D;D;D;D;D	0.80764	0.987;0.994;0.987;0.987;0.994	T	0.71909	-0.4450	10	0.66056	D	0.02	-21.1434	8.2617	0.31788	0.0:0.6401:0.0:0.3599	.	50;161;166;161;161	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	N	161	ENSP00000377591:K161N;ENSP00000449396:K161N;ENSP00000302919:K161N;ENSP00000267064:K161N	ENSP00000267064:K161N	K	-	3	2	SMARCC2	54864904	0.975000	0.34042	1.000000	0.80357	0.976000	0.68499	0.153000	0.16323	0.924000	0.37069	-0.140000	0.14226	AAG		0.418	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			G	56578637	C	G	56578637	3	3	95	1	0	0	0	0	1	0	0	0	14776	912	32	5	3354	5	SMARCC2	12	56578637	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	819461	56578637	77273258	43	6342											
MARCH9	92979	broad.mit.edu	37	chr12	58152353	58152353	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctattgctcaggcctcatCatccatgaaggctcctctgt	7	13	7	14	0	4	1	3	1	1	0	7	1	7	1	4	2	1	2	4	2	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:58152353C>A	ENST00000266643.5	+	4	1145	c.714C>A	c.(712-714)atC>atA	p.I238I	MARCH9_ENST00000548358.1_Silent_p.I125I	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	238					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGGCCTCATCATCCATGAAG	0.478																																						uc001spx.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(712-714)atC>atA		Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.							58	49	52					12																	58152353		2203	4300	6503	SO:0001819	synonymous_variant	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152353C>A	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.714C>A	12.37:g.58152353C>A						MARCH9_uc001spy.3_Silent_p.I125I	p.I238I	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	1145	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		238					B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	c.714C>A	CCDS31847.1																																																																																				0.478	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		A	58152353	C	A	58152353	2	1	95	1	0	0	0	0	0	0	0	1	9308	816	29	5		5	MARCH9	12	58152353	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	1573716	58152353	75699542	44	6343											
IFNG	3458	broad.mit.edu	37	chr12	68552011	68552011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctaagaaaagagttccaTtatccgctacatctgaatga	14	11	7	9	1	1	4	0	2	1	2	3	4	3	4	3	0	2	2	3	0	6	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:68552011T>C	ENST00000229135.3	-	2	274	c.143A>G	c.(142-144)aAt>aGt	p.N48S	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	48					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	AAGAGTTCCATTATCCGCTAC	0.308																																						uc001stw.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(142-144)aAt>aGt		Homo sapiens interferon, gamma (IFNG), mRNA.	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						91	90	90					12																	68552011		2203	4298	6501	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68552011T>C		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.143A>G	12.37:g.68552011T>C	ENSP00000229135:p.Asn48Ser						p.N48S	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	1	269	-			48					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.143A>G	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	T	9.682	1.149574	0.21288	.	.	ENSG00000111537	ENST00000229135	T	0.39787	1.06	5.2	0.397	0.16314	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.456553	0.24022	N	0.042280	T	0.21841	0.0526	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.15838	-1.0423	9	.	.	.	0.4298	6.88	0.24168	0.0:0.3574:0.0:0.6426	.	48	P01579	IFNG_HUMAN	S	48	ENSP00000229135:N48S	.	N	-	2	0	IFNG	66838278	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.137000	0.10389	0.264000	0.21851	-0.408000	0.06270	AAT		0.308	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			C	68552011	T	C	68552011	3	2	95	1	0	0	0	0	1	0	0	0	7548	1493	52	4	369	4	IFNG	12	68552011	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	10399658	68552011	65299884	45	6344											
CNOT2	4848	broad.mit.edu	37	chr12	70732228	70732228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttttcatgctagaatttGaatacatctggcaagacaac	13	15	6	7	0	2	3	1	1	1	2	2	3	2	3	0	1	3	2	0	1	6	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732228G>C	ENST00000418359.3	+	11	1357	c.906G>C	c.(904-906)ttG>ttC	p.L302F	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.L302F	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	302					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTAGAATTTGAATACATCTG	0.294																																						uc001svv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(904-906)ttG>ttC		Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.							61	62	62					12																	70732228		2198	4297	6495	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732228G>C	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.906G>C	12.37:g.70732228G>C	ENSP00000412091:p.Leu302Phe					CNOT2_uc009zro.3_Missense_Mutation_p.L302F|CNOT2_uc009zrp.3_Missense_Mutation_p.L282F|CNOT2_uc009zrq.3_Missense_Mutation_p.L302F|CNOT2_uc001svw.1_Missense_Mutation_p.L42F	p.L302F	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1488	+	Renal(347;0.236)		302					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.906G>C	CCDS31857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.910|9.910	1.209137|1.209137	0.22205|0.22205	.|.	.|.	ENSG00000111596|ENSG00000111596	ENST00000552599|ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	.|T;T;T;T;T;T;T;T	.|0.73681	.|-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73992|0.73992	0.3658|0.3658	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|D;P	.|0.64830	.|0.994;0.861	.|P;B	.|0.59703	.|0.862;0.297	T|T	0.67829|0.67829	-0.5569|-0.5569	5|10	.|0.09338	.|T	.|0.73	-3.6422|-3.6422	12.6383|12.6383	0.56694|0.56694	0.0757:0.0:0.9242:0.0|0.0757:0.0:0.9242:0.0	.|.	.|302;302	.|Q9NZN8-4;Q9NZN8	.|.;CNOT2_HUMAN	Q|F	13|302;302;302;165;241;293;302;112	.|ENSP00000450318:L302F;ENSP00000229195:L302F;ENSP00000412091:L302F;ENSP00000448490:L165F;ENSP00000447497:L241F;ENSP00000449659:L293F;ENSP00000449260:L302F;ENSP00000448499:L112F	.|ENSP00000229195:L302F	E|L	+|+	1|3	0|2	CNOT2|CNOT2	69018495|69018495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.744000|5.744000	0.68664|0.68664	2.560000|2.560000	0.86352|0.86352	0.591000|0.591000	0.81541|0.81541	GAA|TTG		0.294	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			C	70732228	G	C	70732228	3	2	95	1	0	0	0	0	1	0	0	0	3619	1281	45	5	940	5	CNOT2	12	70732228	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	2180217	70732228	63119667	46	6345											
CNOT2	4848	broad.mit.edu	37	chr12	70732315	70732315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaaaataataaccagcaGaaaaaagggatccaggtgtt	20	6	8	7	0	0	1	0	0	0	1	1	2	1	2	2	2	2	2	2	2	7	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732315G>C	ENST00000418359.3	+	11	1444	c.993G>C	c.(991-993)caG>caC	p.Q331H	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.Q331H	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	331					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATAACCAGCAGAAAAAAGGGA	0.338																																						uc001svv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(991-993)caG>caC		Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.							86	89	88					12																	70732315		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732315G>C	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.993G>C	12.37:g.70732315G>C	ENSP00000412091:p.Gln331His					CNOT2_uc009zro.3_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.3_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.3_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	p.Q331H	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1575	+	Renal(347;0.236)		331					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.993G>C	CCDS31857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.692493|1.692493	0.30052|0.30052	.|.	.|.	ENSG00000111596|ENSG00000111596	ENST00000552599|ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	.|T;T;T;T	.|0.49720	.|0.78;0.78;0.77;0.78	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.052024	.|0.85682	.|D	.|0.000000	T|T	0.63390|0.63390	0.2507|0.2507	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D	.|0.57899	.|0.745;0.981	.|P;P	.|0.55749	.|0.556;0.783	T|T	0.61257|0.61257	-0.7099|-0.7099	5|10	.|0.42905	.|T	.|0.14	-2.5504|-2.5504	19.8633|19.8633	0.96793|0.96793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|331;331	.|Q9NZN8-4;Q9NZN8	.|.;CNOT2_HUMAN	Q|H	42|331;331;194;270;322;331;141	.|ENSP00000229195:Q331H;ENSP00000412091:Q331H;ENSP00000449659:Q322H;ENSP00000449260:Q331H	.|ENSP00000229195:Q331H	E|Q	+|+	1|3	0|2	CNOT2|CNOT2	69018582|69018582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.830000|6.830000	0.75319|0.75319	2.697000|2.697000	0.92050|0.92050	0.591000|0.591000	0.81541|0.81541	GAA|CAG		0.338	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			C	70732315	G	C	70732315	3	2	95	1	0	0	0	0	1	0	0	0	3619	933	33	5	1027	5	CNOT2	12	70732315	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	87	70732315	63119580	47	6346											
FSCB	84075	broad.mit.edu	37	chr14	44974567	44974567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatagtggagactgagCttcagcaggagtttcatctg	10	11	12	8	0	4	3	3	1	1	2	4	5	4	4	0	2	2	3	0	2	1	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:44974567C>A	ENST00000340446.4	-	1	1915	c.1624G>T	c.(1624-1626)Gct>Tct	p.A542S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	542	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTGAGCTTCAGCAGGA	0.493																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1624-1626)Gct>Tct		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							31	32	32					14																	44974567		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974567C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1624G>T	14.37:g.44974567C>A	ENSP00000344579:p.Ala542Ser						p.A542S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1933	-			542			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1624G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472084	0.26423	.	.	ENSG00000189139	ENST00000340446	T	0.11712	2.75	5.55	-2.57	0.06248	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.21917	0.037	T	0.46665	-0.9175	9	0.10902	T	0.67	0.1217	9.0565	0.36408	0.0:0.4999:0.1099:0.3902	.	542	Q5H9T9	FSCB_HUMAN	S	542	ENSP00000344579:A542S	ENSP00000344579:A542S	A	-	1	0	FSCB	44044317	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.878000	0.28126	-0.723000	0.04915	-1.854000	0.00565	GCT		0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		A	44974567	C	A	44974567	3	1	95	1	0	0	0	0	1	0	0	0	6066	797	28	5	857	5	FSCB	14	44974567	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		44974567	62374973	48	6347											
ACTN1	87	broad.mit.edu	37	chr14	69349203	69349203	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctggatccagggcccgAtgacattggcctgggctcca	6	9	14	12	1	1	1	0	1	1	0	3	3	3	2	4	5	0	1	4	5	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:69349203A>C	ENST00000193403.6	-	16	2308	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	ACTN1_ENST00000394419.4_Missense_Mutation_p.I642S|ACTN1_ENST00000438964.2_Missense_Mutation_p.I642S|ACTN1_ENST00000376839.3_Missense_Mutation_p.I577S|ACTN1_ENST00000538545.2_Missense_Mutation_p.I642S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	642	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGGCCCGATGACATTGGC	0.642																																						uc001xkl.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(1924-1926)aTc>aGc		Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.							69	48	55					14																	69349203		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69349203A>C	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1925T>G	14.37:g.69349203A>C	ENSP00000193403:p.Ile642Ser					ACTN1_uc001xkk.3_Missense_Mutation_p.I238S|ACTN1_uc010ttb.2_Missense_Mutation_p.I577S|ACTN1_uc001xkm.3_Missense_Mutation_p.I642S|ACTN1_uc001xkn.3_Missense_Mutation_p.I642S|ACTN1_uc010ttc.2_Missense_Mutation_p.I227S	p.I642S	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	15	2235	-			642			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1925T>G	CCDS9792.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.93|18.93|18.93	3.726705|3.726705|3.726705	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000072110|ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075	.|T;T;T;T;T|.	.|0.53206|.	.|0.63;0.63;0.63;0.63;0.63|.	5.5|5.5|5.5	5.5|5.5|5.5	0.81552|0.81552|0.81552	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.73946|0.73946|0.73946	0.3652|0.3652|0.3652	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;B;D;B;P|.	.|0.56746|.	.|0.977;0.291;0.958;0.083;0.833|.	.|D;B;D;B;P|.	.|0.71414|.	.|0.967;0.293;0.973;0.398;0.853|.	T|T|T	0.73936|0.73936|0.73936	-0.3825|-0.3825|-0.3825	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	15.7759|15.7759|15.7759	0.78214|0.78214|0.78214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|273;642;642;642;289|.	.|B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.|.;.;.;ACTN1_HUMAN;.|.	Q|S|A	81|642;642;642;577;642|28	.|ENSP00000193403:I642S;ENSP00000377941:I642S;ENSP00000414272:I642S;ENSP00000366035:I577S;ENSP00000439828:I642S|.	.|ENSP00000193403:I642S|.	H|I|S	-|-|-	3|2|1	2|0|0	ACTN1|ACTN1|ACTN1	68418956|68418956|68418956	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	9.139000|9.139000|9.139000	0.94554|0.94554|0.94554	2.308000|2.308000|2.308000	0.77769|0.77769|0.77769	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATC|TCG		0.642	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		C	69349203	A	C	69349203	3	2	95	1	0	0	0	0	1	0	0	0	204	333	12	5	847	5	ACTN1	14	69349203	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	24374636	69349203	38000337	49	6348											
ACOT4	122970	broad.mit.edu	37	chr14	74060458	74060458	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtattggagggggcctCttggaatatcgagccagcct	7	12	14	8	1	1	0	0	0	1	0	2	3	1	2	3	5	2	1	3	5	3	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:74060458C>A	ENST00000326303.4	+	2	764	c.510C>A	c.(508-510)ctC>ctA	p.L170L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	170					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAGGGGGCCTCTTGGAATATC	0.423																																						uc001xoo.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(508-510)ctC>ctA		Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.							87	84	85					14																	74060458		2203	4300	6503	SO:0001819	synonymous_variant	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060458C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.510C>A	14.37:g.74060458C>A							p.L170L	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	1	764	+			170					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	c.510C>A	CCDS9817.1																																																																																				0.423	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		A	74060458	C	A	74060458	2	1	95	1	0	0	0	0	0	0	0	1	153	900	32	5		5	ACOT4	14	74060458	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	4711255	74060458	33289082	50	6349											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107465	42107465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcttcaggtctacccCgaggtgaaggatagtaacca	10	8	11	12	2	3	1	1	1	2	0	3	3	3	2	4	4	2	1	4	4	4	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr15:42107465C>T	ENST00000456763.2	+	12	1393	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	MAPKBP1_ENST00000457542.2_Silent_p.P393P|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Silent_p.P276P|MAPKBP1_ENST00000514566.1_Silent_p.P393P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	399										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGTCTACCCCGAGGTGAAGG	0.572																																						uc001zok.4																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1195-1197)ccC>ccT		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							82	73	76					15																	42107465		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42107465C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1197C>T	15.37:g.42107465C>T						MAPKBP1_uc010bci.3_Silent_p.P393P|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Silent_p.P393P|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	p.P399P	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	11	1483	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	399					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1197C>T	CCDS45239.1																																																																																				0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		T	42107465	C	T	42107465	2	4	95	1	0	0	0	0	0	0	0	1	9292	639	23	2		2	MAPKBP1	15	42107465	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		42107465	60423927	51	6350											
CAMKK1	84254	broad.mit.edu	37	chr17	3772866	3772866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgcagtgctcctcctccGaaggaaggggctcctccccg	5	7	12	17	3	0	0	0	0	0	0	5	2	5	1	6	3	2	4	6	3	2	0	rs552614551		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:3772866G>A	ENST00000348335.2	-	14	1404	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	CAMKK1_ENST00000381769.2_Missense_Mutation_p.S446L|CAMKK1_ENST00000381771.2_Missense_Mutation_p.S457L|CAMKK1_ENST00000158166.5_Missense_Mutation_p.S457L	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	419					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.S419L(1)|p.S457L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCCTCCTCCGAAGGAAGGGG	0.632																																						uc002fwv.3																			2	Substitution - Missense(2)	p.S419L(1)|p.S457L(1)	endometrium(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1369-1371)tCg>tTg		Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.							97	88	91					17																	3772866		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3772866G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1256C>T	17.37:g.3772866G>A	ENSP00000323118:p.Ser419Leu					CAMKK1_uc002fwt.3_Missense_Mutation_p.S419L|CAMKK1_uc002fwu.3_Missense_Mutation_p.S419L	p.S457L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	14	1518	-			419			Calmodulin-binding (By similarity).		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.1370C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061598	0.55432	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.53	4.55	0.56014	Protein kinase-like domain (1);	0.080456	0.51477	D	0.000091	T	0.22282	0.0537	N	0.04297	-0.235	0.41474	D	0.98812	B;B	0.23316	0.083;0.05	B;B	0.17433	0.018;0.008	T	0.08743	-1.0707	10	0.42905	T	0.14	-13.3955	6.246	0.20818	0.2318:0.0:0.7682:0.0	.	457;419	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	L	446;419;457;457	ENSP00000371188:S446L;ENSP00000323118:S419L;ENSP00000371190:S457L;ENSP00000158166:S457L	ENSP00000158166:S457L	S	-	2	0	CAMKK1	3719615	0.083000	0.21467	0.898000	0.35279	0.828000	0.46876	2.511000	0.45476	2.770000	0.95276	0.655000	0.94253	TCG		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		A	3772866	G	A	3772866	3	1	95	1	0	0	0	0	1	0	0	0	2606	1059	37	2	277	2	CAMKK1	17	3772866	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		3772866	77422344	52	6351											
MED13	9969	broad.mit.edu	37	chr17	60061549	60061549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctctttgatgaatggCattgaaggccctgaagaaag	12	10	10	9	0	1	5	0	4	1	1	1	5	1	5	3	2	1	1	3	2	5	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:60061549C>A	ENST00000397786.2	-	15	2947	c.2871G>T	c.(2869-2871)atG>atT	p.M957I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	957					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATGAATGGCATTGAAGGCC	0.378																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2869-2871)atG>atT		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							107	98	101					17																	60061549		1855	4088	5943	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60061549C>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2871G>T	17.37:g.60061549C>A	ENSP00000380888:p.Met957Ile						p.M957I	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			14	2948	-			957					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2871G>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231541	0.39399	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73681	-0.77	5.59	5.59	0.84812	.	0.110570	0.85682	D	0.000000	T	0.72463	0.3463	L	0.60455	1.87	0.80722	D	1	P	0.35383	0.498	B	0.33454	0.164	T	0.71351	-0.4619	10	0.36615	T	0.2	-27.4555	19.5763	0.95446	0.0:1.0:0.0:0.0	.	957	Q9UHV7	MED13_HUMAN	I	957;956	ENSP00000380888:M957I	ENSP00000262436:M956I	M	-	3	0	MED13	57416331	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.518000	0.67068	2.646000	0.89796	0.655000	0.94253	ATG		0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		A	60061549	C	A	60061549	3	1	95	1	0	0	0	0	1	0	0	0	9430	710	25	5	3717	5	MED13	17	60061549	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	56288683	60061549	21133661	53	6352											
CBX8	57332	broad.mit.edu	37	chr17	77769275	77769275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggccaggtcctggggcGagcggccagggtaggggatc	6	5	21	9	2	0	0	0	0	0	0	2	3	1	2	3	9	1	1	3	9	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:77769275G>A	ENST00000269385.4	-	5	446	c.329C>T	c.(328-330)tCg>tTg	p.S110L	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	110					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCCTGGGGCGAGCGGCCAGG	0.657																																						uc002jxd.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(328-330)tCg>tTg		Homo sapiens chromobox homolog 8 (CBX8), mRNA.							14	17	16					17																	77769275		2200	4298	6498	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769275G>A	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.329C>T	17.37:g.77769275G>A	ENSP00000269385:p.Ser110Leu						p.S110L	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	447	-			110					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.329C>T	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498733	0.64298	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.25579	1.79;1.79;1.79	4.91	4.91	0.64330	.	0.680148	0.14996	N	0.286377	T	0.25644	0.0624	L	0.36672	1.1	0.43214	D	0.995087	D	0.57899	0.981	B	0.42771	0.397	T	0.05666	-1.0871	10	0.34782	T	0.22	-6.7112	18.097	0.89493	0.0:0.0:1.0:0.0	.	110	Q9HC52	CBX8_HUMAN	L	110;85;100	ENSP00000269385:S110L;ENSP00000408753:S85L;ENSP00000405058:S100L	ENSP00000269385:S110L	S	-	2	0	CBX8	75383870	1.000000	0.71417	0.812000	0.32479	0.937000	0.57800	6.765000	0.74965	2.242000	0.73789	0.462000	0.41574	TCG		0.657	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		A	77769275	G	A	77769275	3	1	95	1	0	0	0	0	1	0	0	0	2724	1045	37	2	819	2	CBX8	17	77769275	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	17707726	77769275	3425935	54	6353											
INO80C	125476	broad.mit.edu	37	chr18	33077703	33077703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcaaagctggaagcggAcgcttttttcttcttactgg	7	13	11	10	3	2	0	0	0	2	0	2	2	2	2	0	3	4	3	0	3	3	5	rs368883828		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:33077703A>T	ENST00000334598.7	-	1	252	c.136T>A	c.(136-138)Tcc>Acc	p.S46T	INO80C_ENST00000590757.1_Missense_Mutation_p.S46T|INO80C_ENST00000441607.2_Missense_Mutation_p.S46T|INO80C_ENST00000586489.1_5'Flank|INO80C_ENST00000592173.1_Missense_Mutation_p.S46T|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.S46T	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	46					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTGGAAGCGGACGCTTTTTTC	0.672																																						uc010dmt.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						c.(136-138)Tcc>Acc		Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.							23	24	24					18																	33077703		2203	4300	6503	SO:0001583	missense	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33077703A>T		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"INO80 complex subunits"	26994	protein-coding gene	gene with protein product	"IES6 homolog (S. cerevisiae)"		"chromosome 18 open reading frame 37"	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.136T>A	18.37:g.33077703A>T	ENSP00000334473:p.Ser46Thr					INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.4_5'Flank|INO80C_uc002kyy.4_Missense_Mutation_p.S46T	p.S46T	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN			0	253	-			46					B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	37	c.136T>A	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	A	6.806	0.517731	0.13005	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	4.37	-0.193	0.13244	.	0.635091	0.16359	N	0.217869	T	0.11750	0.0286	N	0.03608	-0.345	0.09310	N	0.999992	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.14023	0.001;0.001;0.01	T	0.33214	-0.9877	9	0.07325	T	0.83	.	6.0511	0.19787	0.3689:0.471:0.0:0.1601	.	46;46;46	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	T	46	.	ENSP00000283410:S46T	S	-	1	0	INO80C	31331701	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.006000	0.14734	0.454000	0.30748	TCC		0.672	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281		T	33077703	A	T	33077703	3	4	95	1	0	0	0	0	1	0	0	0	7748	275	10	5	578	5	INO80C	18	33077703	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		33077703	44999545	55	6354											
POLI	11201	broad.mit.edu	37	chr18	51820790	51820790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtacaaaaggaactgctgGcagagtggaagagagcagga	16	4	15	6	0	0	2	0	0	0	2	0	6	0	5	0	4	4	4	0	4	5	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:51820790G>A	ENST00000579534.1	+	10	2319	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	POLI_ENST00000579434.1_Missense_Mutation_p.A623T|POLI_ENST00000217800.5_Missense_Mutation_p.A600T|POLI_ENST00000406285.3_Missense_Mutation_p.A647T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	726					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.A726T(1)|p.A701T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGAACTGCTGGCAGAGTGGAA	0.388								DNA polymerases (catalytic subunits)																														uc002lfj.4																			2	Substitution - Missense(2)	p.A726T(1)|p.A701T(1)	endometrium(2)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(2176-2178)Gca>Aca	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.							47	49	49					18																	51820790		2203	4299	6502	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51820790G>A		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.2176G>A	18.37:g.51820790G>A	ENSP00000462664:p.Ala726Thr					POLI_uc010xds.2_Missense_Mutation_p.A647T|POLI_uc002lfk.4_Missense_Mutation_p.A623T|POLI_uc010dpg.3_Missense_Mutation_p.A322T	p.A726T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	9	2244	+			726					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.2176G>A	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483783	0.26598	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.53857	0.6	5.5	3.66	0.41972	.	0.364880	0.29046	N	0.013305	T	0.48277	0.1491	M	0.73962	2.25	0.38339	D	0.944018	P;P	0.43094	0.799;0.799	B;B	0.37650	0.255;0.255	T	0.50676	-0.8800	10	0.31617	T	0.26	-6.0943	9.2083	0.37302	0.1781:0.0:0.8219:0.0	.	646;726	B7Z780;Q9UNA4	.;POLI_HUMAN	T	647;726	ENSP00000385196:A647T	ENSP00000217800:A726T	A	+	1	0	POLI	50074788	1.000000	0.71417	0.475000	0.27278	0.821000	0.46438	3.201000	0.51059	0.750000	0.32877	-0.142000	0.14014	GCA		0.388	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		A	51820790	G	A	51820790	3	1	95	1	0	0	0	0	1	0	0	0	12203	1203	42	3	2214	3	POLI	18	51820790	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	18743087	51820790	26256458	56	6355											
DUS3L	56931	broad.mit.edu	37	chr19	5790075	5790075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggattagggagggacAcagcctgttcttgtcgtagt	7	12	14	8	1	1	0	0	0	1	0	2	3	1	3	2	3	2	2	2	3	2	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:5790075A>C	ENST00000309061.7	-	2	466	c.370T>G	c.(370-372)Tgt>Ggt	p.C124G	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	124							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGGAGGGACACAGCCTGTTC	0.607																																						uc002mdc.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(370-372)Tgt>Ggt		Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.							82	82	82					19																	5790075		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790075A>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.370T>G	19.37:g.5790075A>C	ENSP00000311977:p.Cys124Gly					DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Intron	p.C124G	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			1	467	-			124					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.370T>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012020	0.75046	.	.	ENSG00000141994	ENST00000309061	T	0.53640	0.61	4.74	4.74	0.60224	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79006	-0.1979	10	0.87932	D	0	-25.0258	12.4564	0.55706	1.0:0.0:0.0:0.0	.	124	Q96G46	DUS3L_HUMAN	G	124	ENSP00000311977:C124G	ENSP00000311977:C124G	C	-	1	0	DUS3L	5741075	1.000000	0.71417	0.560000	0.28344	0.885000	0.51271	8.629000	0.90983	1.889000	0.54706	0.533000	0.62120	TGT		0.607	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		C	5790075	A	C	5790075	3	2	95	1	0	0	0	0	1	0	0	0	4807	159	6	5	1630	5	DUS3L	19	5790075	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		5790075	53338908	57	6356											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651442	8651442	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagtctccctgttacCatgacgatgagagatgcatt	9	10	9	13	1	1	3	0	2	1	1	2	5	1	3	4	0	2	2	4	0	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:8651442C>A	ENST00000597188.1	-	20	2673	c.2403G>T	c.(2401-2403)atG>atT	p.M801I	ADAMTS10_ENST00000270328.4_Splice_Site_p.M801I|ADAMTS10_ENST00000595838.1_Splice_Site_p.M288I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	801	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCCTGTTACCATGACGATGA	0.597											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mkj.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.e20+1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.							67	69	68					19																	8651442		2203	4300	6503	SO:0001630	splice_region_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651442C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2403+1G>T	19.37:g.8651442C>A			OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_uc002mki.1_Splice_Site_p.M288_splice|ADAMTS10_uc002mkk.1_Splice_Site_p.M433_splice	p.M801_splice	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			20	2677	-			801			Spacer.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2403_splice	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618262	0.87359	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.51574	0.7	4.87	4.87	0.63330	ADAM-TS Spacer 1 (1);	0.000000	0.85682	U	0.000000	T	0.70552	0.3237	M	0.79805	2.47	0.80722	D	1	P;D;D	0.76494	0.462;0.999;0.999	B;D;D	0.91635	0.27;0.999;0.999	T	0.73855	-0.3851	9	.	.	.	.	17.0069	0.86395	0.0:1.0:0.0:0.0	.	555;801;288	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	I	801;555	ENSP00000270328:M801I	.	M	-	3	0	ADAMTS10	8557442	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.386000	0.79775	2.251000	0.74343	0.561000	0.74099	ATG		0.597	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	Missense_Mutation	A	8651442	C	A	8651442	5	1	95	1	0	0	0	0	0	0	1	0	256	608	21	5	936	5	ADAMTS10	19	8651442	Splice_Site	SNP	C	TCGA-06-5856-01A-01D-1696-08	2861367	8651442	50477541	58	6357											
CDC37	11140	broad.mit.edu	37	chr19	10506731	10506731	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgcctcggcctgcAggcgctccagctctgccttg	2	10	13	16	2	1	0	0	0	1	0	3	0	2	0	4	2	5	5	4	2	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:10506731A>T	ENST00000222005.2	-	2	304	c.251T>A	c.(250-252)cTg>cAg	p.L84Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	84					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCGGCCTGCAGGCGCTCCAG	0.662																																						uc002mof.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(250-252)cTg>cAg		Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.							100	92	95					19																	10506731		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506731A>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.251T>A	19.37:g.10506731A>T	ENSP00000222005:p.Leu84Gln						p.L84Q	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	1	367	-			84					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.251T>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520230	0.44866	.	.	ENSG00000105401	ENST00000222005	T	0.46819	0.86	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.462271	0.20709	N	0.087140	T	0.55986	0.1955	M	0.78049	2.395	0.30937	N	0.726307	P;P	0.37612	0.602;0.602	P;P	0.44518	0.452;0.452	T	0.65590	-0.6131	10	0.72032	D	0.01	.	11.5181	0.50534	1.0:0.0:0.0:0.0	.	84;84	Q6FG59;Q16543	.;CDC37_HUMAN	Q	84	ENSP00000222005:L84Q	ENSP00000222005:L84Q	L	-	2	0	CDC37	10367731	0.978000	0.34361	0.916000	0.36221	0.893000	0.52053	2.576000	0.46033	1.675000	0.50919	0.454000	0.30748	CTG		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		T	10506731	A	T	10506731	3	4	95	1	0	0	0	0	1	0	0	0	3068	188	7	5	913	5	CDC37	19	10506731	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	1855289	10506731	48622252	59	6358											
CC2D1A	54862	broad.mit.edu	37	chr19	14029731	14029731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtccggcccagaggtgcCcccacccccgaggaccctgc	5	4	11	21	2	0	1	0	0	0	1	1	3	1	2	8	3	2	0	8	3	0	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:14029731C>A	ENST00000318003.7	+	10	1266	c.1025C>A	c.(1024-1026)cCc>cAc	p.P342H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P342H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	342	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCAGAGGTGCCCCCACCCCCG	0.672																																						uc002mxo.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1024-1026)cCc>cAc		Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.							14	21	19					19																	14029731		2008	4165	6173	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14029731C>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1025C>A	19.37:g.14029731C>A	ENSP00000313601:p.Pro342His					CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	p.P342H	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		9	1324	+			342			Pro-rich.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1025C>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767691	0.49574	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.25912	1.77	4.75	3.72	0.42706	.	0.269077	0.37261	N	0.002172	T	0.49881	0.1583	M	0.82823	2.61	0.45250	D	0.998253	D;D;D	0.76494	0.999;0.992;0.997	D;P;P	0.66497	0.944;0.808;0.885	T	0.55302	-0.8162	10	0.56958	D	0.05	-10.7435	11.8294	0.52285	0.0:0.9132:0.0:0.0868	.	342;342;96	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	H	342;96	ENSP00000313601:P342H	ENSP00000313601:P342H	P	+	2	0	CC2D1A	13890731	0.864000	0.29904	0.129000	0.21949	0.443000	0.32047	1.938000	0.40203	1.227000	0.43598	0.561000	0.74099	CCC		0.672	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		A	14029731	C	A	14029731	3	1	95	1	0	0	0	0	1	0	0	0	2726	623	22	5	1063	5	CC2D1A	19	14029731	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	3523000	14029731	45099252	60	6359											
MYO9B	4650	broad.mit.edu	37	chr19	17212559	17212559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaggcagctcgggccGccgggagcaggcggcctacc	7	2	18	14	4	0	1	0	0	0	1	1	2	0	2	4	6	3	4	4	6	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:17212559G>A	ENST00000594824.1	+	2	179	c.32G>A	c.(31-33)cGc>cAc	p.R11H	MYO9B_ENST00000397274.2_Missense_Mutation_p.R11H|MYO9B_ENST00000595618.1_Missense_Mutation_p.R11H|CTD-2528A14.5_ENST00000597045.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	11					actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCTCGGGCCGCCGGGAGCAG	0.692																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(31-33)cGc>cAc		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.																																				SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212559G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.32G>A	19.37:g.17212559G>A	ENSP00000471367:p.Arg11His					MYO9B_uc002nfi.3_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	p.R11H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			1	184	+			11			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.32G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708950	0.68615	.	.	ENSG00000099331	ENST00000397274	D	0.85013	-1.93	4.57	3.49	0.39957	.	0.582798	0.15367	N	0.266076	D	0.84460	0.5477	L	0.47716	1.5	0.35489	D	0.7988	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.49387	0.508;0.508;0.609	D	0.85973	0.1478	10	0.44086	T	0.13	.	13.4105	0.60940	0.0:0.159:0.841:0.0	.	11;11;17	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	11	ENSP00000380444:R11H	ENSP00000380444:R11H	R	+	2	0	MYO9B	17073559	1.000000	0.71417	0.002000	0.10522	0.907000	0.53573	4.374000	0.59543	0.859000	0.35456	0.655000	0.94253	CGC		0.692	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17212559	G	A	17212559	3	1	95	1	0	0	0	0	1	0	0	0	10085	1087	38	1	34	1	MYO9B	19	17212559	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	3182828	17212559	41916424	61	6360											
HCK	3055	broad.mit.edu	37	chr20	30661155	30661155	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacagcaacacaccaggaAtcagggagggtaagtatcta	17	5	10	9	0	2	0	1	0	1	0	2	2	2	2	1	3	3	3	1	3	6	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:30661155A>T	ENST00000520553.1	+	3	400	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	HCK_ENST00000534862.1_Missense_Mutation_p.I53F|HCK_ENST00000375862.2_Missense_Mutation_p.I73F|HCK_ENST00000375852.2_Missense_Mutation_p.I73F|HCK_ENST00000518730.1_Missense_Mutation_p.I52F|HCK_ENST00000538448.1_Missense_Mutation_p.I52F	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	73					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CACACCAGGAATCAGGGAGGG	0.512																																						uc002wxh.3																			0		p.H72Q(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(217-219)Atc>Ttc		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							129	111	117					20																	30661155		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30661155A>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.154A>T	20.37:g.30661155A>T	ENSP00000429848:p.Ile52Phe					HCK_uc010gdy.3_Missense_Mutation_p.I53F|HCK_uc021wbv.1_Missense_Mutation_p.I52F|HCK_uc002wxi.3_Missense_Mutation_p.I52F	p.I73F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	454	+			73					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.217A>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	A	6.212	0.407223	0.11754	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.73897	-0.78;-0.78;-0.78;-0.78;-0.77;-0.79	4.27	-8.54	0.00912	Src homology-3 domain (1);	3.109970	0.01151	N	0.006415	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46470	-0.9189	10	0.49607	T	0.09	.	4.7926	0.13256	0.2264:0.5011:0.1084:0.1641	.	52;73	P08631-3;P08631	.;HCK_HUMAN	F	53;52;73;52;52;73	ENSP00000444986:I53F;ENSP00000441169:I52F;ENSP00000365022:I73F;ENSP00000429848:I52F;ENSP00000427757:I52F;ENSP00000365012:I73F	ENSP00000365012:I73F	I	+	1	0	HCK	30124816	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.770000	0.01791	-2.521000	0.00497	-0.686000	0.03744	ATC		0.512	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			T	30661155	A	T	30661155	3	4	95	1	0	0	0	0	1	0	0	0	6994	101	4	5	233	5	HCK	20	30661155	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		30661155	32364365	62	6361											
R3HDML	140902	broad.mit.edu	37	chr20	42973947	42973947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgtgccatccacacCtgtagtagcatcagtgtctg	7	11	11	12	0	2	0	1	0	1	0	3	0	3	0	3	1	2	4	3	1	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:42973947C>T	ENST00000217043.2	+	4	730	c.558C>T	c.(556-558)acC>acT	p.T186T	Y_RNA_ENST00000364493.1_RNA|RP5-881L22.5_ENST00000438702.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	186	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCCACACCTGTAGTAGCA	0.582																																						uc002xls.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(556-558)acC>acT		Homo sapiens R3H domain containing-like (R3HDML), mRNA.							160	137	145					20																	42973947		2203	4300	6503	SO:0001819	synonymous_variant	140902					extracellular region	peptidase inhibitor activity	g.chr20:42973947C>T	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.558C>T	20.37:g.42973947C>T							p.T186T	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	730	+		Myeloproliferative disorder(115;0.028)	186						Silent	SNP	ENST00000217043.2	37	c.558C>T	CCDS13329.1																																																																																				0.582	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		T	42973947	C	T	42973947	2	4	95	1	0	0	0	0	0	0	0	1	12889	668	24	3		3	R3HDML	20	42973947	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	12312792	42973947	20051573	63	6362											
SEMG2	6407	broad.mit.edu	37	chr20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcatacccgtcttcaCgtacagaagaaagacaactt	17	9	5	10	2	3	3	2	0	1	3	3	3	3	3	1	0	3	1	1	0	7	5	rs140069155	byFrequency	TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:43851147C>T	ENST00000372769.3	+	2	964	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.R292S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													C|||	3	0.000599042	0	0	5008	,	,		23488	0.001		0.002	False		,,,				2504	0					uc010ggz.3																			1	Substitution - Missense(1)	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)	lung(1)	autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(874-876)Cgt>Tgt		Homo sapiens semenogelin II (SEMG2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	94	88	90		874	-1.7	0	20	dbSNP_134	90	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SEMG2	NM_003008.2	180	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	possibly-damaging	292/583	43851147	5,13001	2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851147C>T		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.874C>T	20.37:g.43851147C>T	ENSP00000361855:p.Arg292Cys					SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			1	931	+		Myeloproliferative disorder(115;0.0122)	292			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.874C>T	CCDS13346.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.34	1.610816	0.28712	0.0	5.81E-4	ENSG00000124157	ENST00000372769	T	0.06449	3.3	1.28	-1.66	0.08265	.	.	.	.	.	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	D;D;D	0.67145	0.992;0.996;0.996	P;P;P	0.57283	0.817;0.806;0.806	T	0.32561	-0.9902	9	0.72032	D	0.01	.	5.7337	0.18055	0.4022:0.5978:0.0:0.0	.	292;292;292	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	C	292	ENSP00000361855:R292C	ENSP00000361855:R292C	R	+	1	0	SEMG2	43284561	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.512000	0.00446	-0.525000	0.06391	-0.335000	0.08231	CGT		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		T	43851147	C	T	43851147	3	4	95	1	0	0	0	0	1	0	0	0	14045	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	877200	43851147	19174373	64	6363											
LZTR1	8216	broad.mit.edu	37	chr22	21349003	21349003	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccgcccggctgcagcTgagccaactcaaggtgtggg	7	6	16	12	2	1	1	1	1	0	0	1	2	1	1	3	3	5	3	3	3	2	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:21349003T>G	ENST00000215739.8	+	15	2131	c.1772T>G	c.(1771-1773)cTg>cGg	p.L591R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.L572R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	591					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGCTGCAGCTGAGCCAACTC	0.667																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1771-1773)cTg>cGg		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							41	38	39					22																	21349003		2202	4300	6502	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349003T>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1772T>G	22.37:g.21349003T>G	ENSP00000215739:p.Leu591Arg					LZTR1_uc002ztn.3_Missense_Mutation_p.L550R|LZTR1_uc011ahy.2_Missense_Mutation_p.L572R	p.L591R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		14	1875	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	591					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1772T>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.117888	0.77323	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.73469	-0.75;-0.75	4.72	4.72	0.59763	BTB/POZ fold (1);	0.000000	0.64402	D	0.000001	D	0.83617	0.5293	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.98;0.998;0.998	D	0.85256	0.1047	10	0.72032	D	0.01	-22.0346	12.2081	0.54363	0.0:0.0:0.0:1.0	.	572;591;550	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	R	550;591;572	ENSP00000215739:L591R;ENSP00000374006:L572R	ENSP00000215739:L591R	L	+	2	0	LZTR1	19679003	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	4.949000	0.63596	1.979000	0.57680	0.375000	0.23000	CTG		0.667	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		G	21349003	T	G	21349003	3	3	95	1	0	0	0	0	1	0	0	0	9137	1580	55	5	1830	5	LZTR1	22	21349003	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08		21349003	29955563	65	6364											
PPIL2	23759	broad.mit.edu	37	chr22	22042378	22042378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatccaagggggcgaccCcacaggcacaggcacgggta	12	2	14	13	2	0	1	0	0	0	1	1	2	1	1	3	5	0	3	3	5	2	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:22042378C>A	ENST00000335025.8	+	14	1095	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	PPIL2_ENST00000406385.1_Missense_Mutation_p.P335H|PPIL2_ENST00000398831.3_Missense_Mutation_p.P335H|PPIL2_ENST00000412327.1_Missense_Mutation_p.P335H|PPIL2_ENST00000456792.2_Missense_Mutation_p.P314H|PPIL2_ENST00000492445.2_Missense_Mutation_p.P335H|PPIL2_ENST00000446951.1_3'UTR					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGGGGCGACCCCACAGGCACA	0.642																																						uc010gtj.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1003-1005)cCc>cAc		Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.							140	149	146					22																	22042378		2203	4300	6503	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22042378C>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.1004C>A	22.37:g.22042378C>A	ENSP00000334553:p.Pro335His					PPIL2_uc002zvh.4_Missense_Mutation_p.P335H|PPIL2_uc002zvi.4_Missense_Mutation_p.P335H|PPIL2_uc002zvg.4_Missense_Mutation_p.P335H|PPIL2_uc011aij.2_Missense_Mutation_p.P314H|PPIL2_uc002zvk.4_Missense_Mutation_p.P81H	p.P335H	NM_148175	NP_680480	Q13356	PPIL2_HUMAN			13	1120	+	Colorectal(54;0.105)		335			PPIase cyclophilin-type.			Missense_Mutation	SNP	ENST00000335025.8	37	c.1004C>A	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023622	0.75390	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792;ENST00000446951	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.64	3.63	0.41609	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.979	T	0.81726	-0.0801	10	0.87932	D	0	.	12.0263	0.53373	0.0:0.9137:0.0:0.0863	.	314;335;335	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	H	335;335;335;335;335;314;115	ENSP00000390427:P335H;ENSP00000334553:P335H;ENSP00000381812:P335H;ENSP00000445312:P335H;ENSP00000384299:P335H;ENSP00000396228:P314H;ENSP00000405214:P115H	ENSP00000334553:P335H	P	+	2	0	PPIL2	20372378	1.000000	0.71417	0.978000	0.43139	0.940000	0.58332	6.036000	0.70948	1.323000	0.45263	0.491000	0.48974	CCC		0.642	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			A	22042378	C	A	22042378	3	1	95	1	0	0	0	0	1	0	0	0	12327	623	22	5	1058	5	PPIL2	22	22042378	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	693375	22042378	29262188	66	6365											
ZFX	7543	broad.mit.edu	37	chrX	24229156	24229156	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgcaccagtgtagacAttgtgactttaagattgcag	15	11	9	6	0	0	3	0	1	0	2	0	3	0	3	1	0	2	3	1	0	4	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:24229156A>C	ENST00000379177.1	+	11	2508	c.2081A>C	c.(2080-2082)cAt>cCt	p.H694P	ZFX_ENST00000338565.3_Missense_Mutation_p.H644P|ZFX_ENST00000379188.3_Missense_Mutation_p.H694P|ZFX_ENST00000539115.1_Missense_Mutation_p.H465P|ZFX_ENST00000304543.5_Missense_Mutation_p.H694P|ZFX_ENST00000540034.1_Missense_Mutation_p.H733P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	694					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAGTGTAGACATTGTGACTTT	0.433																																					Esophageal Squamous(20;306 562 7346 32868 37983)	uc011mjv.2																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2197-2199)cAt>cCt		Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.							150	131	138					X																	24229156		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229156A>C		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2081A>C	X.37:g.24229156A>C	ENSP00000368475:p.His694Pro					ZFX_uc004dbd.2_Missense_Mutation_p.H694P|ZFX_uc004dbf.3_Missense_Mutation_p.H694P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.H694P|ZFX_uc010nfx.2_Missense_Mutation_p.H465P|ZFX_uc010nfz.3_Missense_Mutation_p.H350P	p.H733P	NM_001178086	NP_001171557	P17010	ZFX_HUMAN			9	2447	+			694					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.2198A>C	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619362	0.46736	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000002	T	0.45657	0.1353	M	0.86268	2.805	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.91635	0.999;0.994;0.997	T	0.53165	-0.8477	10	0.72032	D	0.01	-0.0106	13.401	0.60883	1.0:0.0:0.0:0.0	.	733;416;694	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	P	465;694;416;694;694;733;644	ENSP00000438233:H465P;ENSP00000368486:H694P;ENSP00000368475:H694P;ENSP00000304985:H694P;ENSP00000441382:H733P;ENSP00000343384:H644P	ENSP00000304985:H694P	H	+	2	0	ZFX	24139077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.603000	0.50134	0.481000	0.45027	CAT		0.433	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		C	24229156	A	C	24229156	3	2	95	1	0	0	0	0	1	0	0	0	17658	217	8	5	2166	5	ZFX	23	24229156	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		24229156	131041404	67	6366											
HDAC6	10013	broad.mit.edu	37	chrX	48681101	48681101	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccttggagacccaccAcccctgctgaccctgccacg	6	7	7	21	1	0	2	0	1	0	1	2	3	2	2	8	1	2	1	8	1	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:48681101A>C	ENST00000334136.5	+	24	2587	c.2409A>C	c.(2407-2409)ccA>ccC	p.P803P	HDAC6_ENST00000376619.2_Silent_p.P803P|HDAC6_ENST00000444343.2_Silent_p.P817P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	803					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.P803P(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAGACCCACCACCCCTGCTGA	0.587																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1																			2	Substitution - coding silent(2)	p.P803P(4)	lung(2)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2407-2409)ccA>ccC		Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	Vorinostat(DB02546)						47	41	43					X																	48681101		2203	4300	6503	SO:0001819	synonymous_variant	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48681101A>C	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2409A>C	X.37:g.48681101A>C						HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	p.P803P	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			23	2504	+			803					O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	c.2409A>C	CCDS14306.1																																																																																				0.587	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		C	48681101	A	C	48681101	2	2	95	1	0	0	0	0	0	0	0	1	7011	146	6	5		5	HDAC6	23	48681101	Silent	SNP	A	TCGA-06-5856-01A-01D-1696-08	24451945	48681101	106589459	68	6367											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011638	105011638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaaagagcttagctttaCcagtgatatttggtagtgaa	12	13	9	7	0	0	3	0	2	0	1	1	3	1	3	2	1	3	3	2	1	6	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:105011638C>T	ENST00000372582.1	+	11	2801	c.2045C>T	c.(2044-2046)aCc>aTc	p.T682I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.T682I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	682					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGCTTTACCAGTGATATT	0.393																																						uc004elz.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2044-2046)aCc>aTc		Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.							78	78	78					X																	105011638		2203	4299	6502	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011638C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.2045C>T	X.37:g.105011638C>T	ENSP00000361663:p.Thr682Ile						p.T682I	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			10	2801	+			682					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.2045C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682761	0.68157	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04654	3.87;3.87;3.58	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.11623	0.0283	L	0.54323	1.7	0.58432	D	0.999991	P	0.50617	0.937	P	0.48654	0.585	T	0.00245	-1.1882	10	0.87932	D	0	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	682	Q9NP60	IRPL2_HUMAN	I	682;682;287	ENSP00000361663:T682I;ENSP00000344976:T682I;ENSP00000445576:T287I	ENSP00000344976:T682I	T	+	2	0	IL1RAPL2	104898294	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.487000	0.81328	2.441000	0.82636	0.600000	0.82982	ACC		0.393	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		T	105011638	C	T	105011638	3	4	95	1	0	0	0	0	1	0	0	0	7662	507	18	3	2083	3	IL1RAPL2	23	105011638	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	56330537	105011638	50258922	69	6368											
L1CAM	3897	broad.mit.edu	37	chrX	153141260	153141260	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggctgcagaggaggAgaggccacacgtaccgcagc	10	2	18	11	2	0	2	0	0	0	2	0	4	0	3	2	6	3	5	2	6	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:153141260A>C	ENST00000370060.1	-	2	221	c.32T>G	c.(31-33)cTc>cGc	p.L11R	L1CAM_ENST00000370055.1_Missense_Mutation_p.L11R|L1CAM_ENST00000538883.1_Missense_Mutation_p.L11R|L1CAM_ENST00000543994.1_Missense_Mutation_p.L11R|L1CAM_ENST00000361699.4_Missense_Mutation_p.L11R|L1CAM_ENST00000370057.3_Missense_Mutation_p.L11R|L1CAM_ENST00000361981.3_Missense_Mutation_p.L11R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	11					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGAGGAGAGGCCACAC	0.682											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(31-33)cTc>cGc		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							76	59	65					X																	153141260		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153141260A>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.32T>G	X.37:g.153141260A>C	ENSP00000359077:p.Leu11Arg		OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1753	L1CAM_uc004fjc.3_Missense_Mutation_p.L11R|L1CAM_uc010nuo.3_Missense_Mutation_p.L11R|L1CAM_uc022chz.1_Missense_Mutation_p.L11R	p.L11R	NM_000425	NP_000416	P32004	L1CAM_HUMAN			0	140	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		11					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.32T>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087632	0.76642	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;D;D;D	0.86030	-0.02;-0.03;-0.02;-0.02;-0.02;-0.02;-0.03;-1.38;-1.89;-2.06;-1.88	4.73	4.73	0.59995	.	0.000000	0.30277	N	0.009985	T	0.82213	0.4988	N	0.08118	0	0.27667	N	0.946879	D;D;D	0.71674	0.998;0.998;0.997	D;P;D	0.69479	0.964;0.905;0.947	T	0.75619	-0.3255	10	0.66056	D	0.02	.	9.6867	0.40103	1.0:0.0:0.0:0.0	.	11;11;11	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	11	ENSP00000359077:L11R;ENSP00000438430:L11R;ENSP00000359074:L11R;ENSP00000439645:L11R;ENSP00000354712:L11R;ENSP00000359072:L11R;ENSP00000355380:L11R;ENSP00000402407:L11R;ENSP00000384902:L11R;ENSP00000392524:L11R;ENSP00000396079:L11R	ENSP00000355380:L11R	L	-	2	0	L1CAM	152794454	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.329000	0.59260	1.548000	0.49413	0.381000	0.24937	CTC		0.682	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		C	153141260	A	C	153141260	3	2	95	1	0	0	0	0	1	0	0	0	8588	304	11	5	3853	5	L1CAM	23	153141260	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	48129622	153141260	2129300	70	6369											
NOC2L	26155	broad.mit.edu	37	chr1	887446	887446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcttcgctggggcccGcagtgctcaggacccggcac	5	5	17	14	3	1	0	1	0	0	0	2	2	1	2	2	6	1	5	2	6	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:887446G>A	ENST00000327044.6	-	11	1314	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	422					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGGGGCCCGCAGTGCTCAG	0.592																																						uc009vjq.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(1264-1266)gCg>gTg		Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.							60	58	59					1																	887446		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:887446G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1265C>T	1.37:g.887446G>A	ENSP00000317992:p.Ala422Val					NOC2L_uc001aby.4_Missense_Mutation_p.A219V|NOC2L_uc001abz.4_Missense_Mutation_p.A422V	p.A422V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	10	1324	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	422					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.1265C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.929497	0.00488	.	.	ENSG00000188976	ENST00000327044	T	0.45668	0.89	4.3	0.501	0.16925	Armadillo-type fold (1);	2.141790	0.02332	N	0.074023	T	0.22244	0.0536	N	0.17379	0.485	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.13845	-1.0494	10	0.02654	T	1	-0.9943	2.9925	0.05988	0.6313:0.1462:0.0821:0.1404	.	422;422;189	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	V	422	ENSP00000317992:A422V	ENSP00000317992:A422V	A	-	2	0	NOC2L	877309	0.124000	0.22315	0.000000	0.03702	0.001000	0.01503	3.803000	0.55560	-0.024000	0.13941	-0.339000	0.08088	GCG		0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		A	887446	G	A	887446	3	1	96	1	0	0	0	0	1	0	0	0	10513	1087	38	1	1020	1	NOC2L	1	887446	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		887446	248363175	1	6370											
PRDM16	63976	broad.mit.edu	37	chr1	3328828	3328828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgcaacgggcgccgcCggggactccatcaaggccat	8	5	13	15	4	1	1	1	1	0	0	2	2	2	2	4	4	2	1	4	4	2	0	rs371813954		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:3328828C>T	ENST00000270722.5	+	9	2116	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	PRDM16_ENST00000514189.1_Silent_p.A690A|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Silent_p.A689A|PRDM16_ENST00000378398.3_Silent_p.A690A|PRDM16_ENST00000378391.2_Silent_p.A689A|PRDM16_ENST00000442529.2_Silent_p.A689A|PRDM16_ENST00000511072.1_Silent_p.A690A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	689	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCGCCGCCGGGGACTCCA	0.642			T	EVI1	"MDS, AML"																																	uc001akf.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2065-2067)gcC>gcT		Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.							51	62	58					1																	3328828		2015	4162	6177	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328828C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2067C>T	1.37:g.3328828C>T						PRDM16_uc001ake.3_Silent_p.A689A|PRDM16_uc009vlh.3_Silent_p.A390A|PRDM16_uc001akc.3_Silent_p.A689A	p.A689A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	8	2149	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	689			Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.2067C>T	CCDS41236.2																																																																																				0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3328828	C	T	3328828	2	4	96	1	0	0	0	0	0	0	0	1	12457	639	23	2		2	PRDM16	1	3328828	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2441382	3328828	245921793	2	6371											
GPR153	387509	broad.mit.edu	37	chr1	6314021	6314021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccatggccacgctgccGcccaccagcagcaggaagca	10	2	11	18	3	0	0	0	0	0	0	0	1	0	1	5	2	4	4	5	2	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:6314021G>A	ENST00000377893.2	-	3	802	c.543C>T	c.(541-543)ggC>ggT	p.G181G		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCACGCTGCCGCCCACCAGCA	0.692																																						uc001amp.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(541-543)ggC>ggT		Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.							32	37	35					1																	6314021		2201	4297	6498	SO:0001819	synonymous_variant	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314021G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.543C>T	1.37:g.6314021G>A							p.G181G	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	803	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	181					Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	ENST00000377893.2	37	c.543C>T	CCDS64.1																																																																																				0.692	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			A	6314021	G	A	6314021	2	1	96	1	0	0	0	0	0	0	0	1	6659	1074	38	1		1	GPR153	1	6314021	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2985193	6314021	242936600	3	6372											
CLCN6	1185	broad.mit.edu	37	chr1	11893604	11893605	+	Frame_Shift_Ins	INS	-	-	T																															tgaattcaagtatcaagacaINStttttttgtcccaatgatac																										TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:11893604_11893605insT	ENST00000346436.6	+	14	1333_1334	c.1281_1282insT	c.(1282-1284)tttfs	p.F428fs	CLCN6_ENST00000376487.3_Frame_Shift_Ins_p.F406fs|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Frame_Shift_Ins_p.F428fs	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	428					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATCAAGACATTTTTTTGTCC	0.455																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1279-1284)acatttfs		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.																																				SO:0001589	frameshift_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11893604_11893605insT	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1288dupT	1.37:g.11893611_11893611dupT	ENSP00000234488:p.Phe428fs					CLCN6_uc010oat.2_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Ins_p.T405fs	p.T427fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	13	1394_1395	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	427					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Frame_Shift_Ins	INS	ENST00000346436.6	37	c.1281_1282insT	CCDS138.1																																																																																				0.455	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		T	11893605	-	T	11893604	7	5	96	1	0	1	1	0	0	0	0	0	3467	204	8	0	1345	0	CLCN6	1	11893604	Frame_Shift_Ins	INS	-	TCGA-06-5858-01A-01D-1696-08	5579583	11893604	237357017	4	6373											
DNAJC16	23341	broad.mit.edu	37	chr1	15870908	15870908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtgtaggaattggcGtggtccatgctgggtatgag	7	13	16	5	1	1	1	1	1	0	0	2	2	2	2	1	5	1	3	1	5	3	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:15870908G>A	ENST00000375847.3	+	5	753	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	SCARNA21_ENST00000516057.1_RNA|DNAJC16_ENST00000375838.1_Missense_Mutation_p.V197M|DNAJC16_ENST00000375849.1_Missense_Mutation_p.V197M	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	197	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGAATTGGCGTGGTCCATGC	0.463																																						uc001aws.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(589-591)Gtg>Atg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.							108	100	103					1																	15870908		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15870908G>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.589G>A	1.37:g.15870908G>A	ENSP00000365007:p.Val197Met					DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.3_5'UTR	p.V197M	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	4	709	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	197			Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.589G>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956238	0.92726	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.03301	3.98;3.98;3.98	6.16	6.16	0.99307	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	L	0.55481	1.735	0.39538	D	0.968775	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.00009	-1.2465	10	0.59425	D	0.04	-26.6809	19.4236	0.94732	0.0:0.0:1.0:0.0	.	197;197	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	M	197	ENSP00000365007:V197M;ENSP00000364998:V197M;ENSP00000365009:V197M	ENSP00000364998:V197M	V	+	1	0	DNAJC16	15743495	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	9.238000	0.95380	2.937000	0.99478	0.650000	0.86243	GTG		0.463	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		A	15870908	G	A	15870908	3	1	96	1	0	0	0	0	1	0	0	0	4635	1145	40	1	603	1	DNAJC16	1	15870908	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3977304	15870908	233379713	5	6374											
NUDC	10726	broad.mit.edu	37	chr1	27268025	27268025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagcccggcaggaggcCgagcggcgggagaaggcgga	11	0	21	9	5	0	2	0	0	0	2	0	7	0	4	2	7	2	1	2	7	2	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:27268025C>T	ENST00000321265.5	+	3	360	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	79					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCAGGAGGCCGAGCGGCGGG	0.617																																						uc001bng.1																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(235-237)gcC>gcT		Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.							20	26	24					1																	27268025		2201	4299	6500	SO:0001819	synonymous_variant	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27268025C>T		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.237C>T	1.37:g.27268025C>T						BC016143_uc021ojq.1_Intron	p.A79A	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	2	353	+			79					Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Silent	SNP	ENST00000321265.5	37	c.237C>T	CCDS292.1																																																																																				0.617	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			T	27268025	C	T	27268025	2	4	96	1	0	0	0	0	0	0	0	1	10721	639	23	2		2	NUDC	1	27268025	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	11397117	27268025	221982596	6	6375											
EPS15	2060	broad.mit.edu	37	chr1	51829678	51829678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagctcgatgtggctgaaCgaaaaggatcttcattgttg	11	11	12	7	2	2	2	1	1	1	1	3	5	2	3	0	2	2	3	0	2	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:51829678C>T	ENST00000371733.3	-	23	2315	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	EPS15_ENST00000396122.4_Missense_Mutation_p.R417H|EPS15_ENST00000371730.2_Missense_Mutation_p.R606H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	740	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTGGCTGAACGAAAAGGATC	0.388			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(2218-2220)cGt>cAt		Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.							158	143	148					1																	51829678		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51829678C>T	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2219G>A	1.37:g.51829678C>T	ENSP00000360798:p.Arg740His					EPS15_uc009vyz.1_Missense_Mutation_p.R606H|EPS15_uc001csp.3_Missense_Mutation_p.R426H	p.R740H	NM_001981	NP_001972	P42566	EPS15_HUMAN			22	2311	-			740			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2219G>A	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322996	0.24080	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.21191	2.02;2.02;2.02	5.95	0.251	0.15540	.	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	0.09310	N	0.999998	D;B;B	0.58620	0.983;0.417;0.084	B;B;B	0.38156	0.266;0.084;0.084	T	0.24225	-1.0166	9	0.41790	T	0.15	.	6.6174	0.22784	0.1178:0.5499:0.0:0.3323	.	606;740;426	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	H	606;740;417	ENSP00000360795:R606H;ENSP00000360798:R740H;ENSP00000379428:R417H	ENSP00000360795:R606H	R	-	2	0	EPS15	51602266	0.993000	0.37304	0.991000	0.47740	0.161000	0.22273	0.274000	0.18680	0.129000	0.18514	-0.140000	0.14226	CGT		0.388	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		T	51829678	C	T	51829678	3	4	96	1	0	0	0	0	1	0	0	0	5192	536	19	1	483	1	EPS15	1	51829678	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24561653	51829678	197420943	7	6376											
C1orf103	55791	broad.mit.edu	37	chr1	111490908	111490908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttaggagttgggaaccGgtgacattagcttccccatt	8	12	11	10	1	0	1	0	1	0	0	1	3	1	3	3	3	3	3	3	3	3	5	rs375688507		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111490908G>A	ENST00000369763.4	-	4	2373	c.1983C>T	c.(1981-1983)acC>acT	p.T661T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Silent_p.T125T|LRIF1_ENST00000494675.1_Silent_p.T125T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTGGGAACCGGTGACATTAG	0.368																																						uc001eaa.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1981-1983)acC>acT		Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.		G	,	2,4404	4.2+/-10.8	0,2,2201	261	230	240		375,1983	1.5	0	1		240	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIF1	NM_001006945.1,NM_018372.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	125/234,661/770	111490908	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490908G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1983C>T	1.37:g.111490908G>A						LRIF1_uc001dzz.3_Silent_p.T125T|LRIF1_uc001eab.3_Silent_p.T125T	p.T661T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN			3	2239	-			661					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1983C>T	CCDS30800.1																																																																																				0.368	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		A	111490908	G	A	111490908	2	1	96	1	0	0	0	0	0	0	0	1	1977	1103	39	2		2	C1orf103	1	111490908	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	59661230	111490908	137759713	8	6377											
DENND2D	79961	broad.mit.edu	37	chr1	111730833	111730833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacaaacttcttcacaaatCggcggttggtcttggaggtc	9	12	10	10	2	4	0	2	0	2	0	6	1	4	1	0	5	1	1	0	5	2	4	rs201272881		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111730833C>T	ENST00000357640.4	-	11	1488	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND2D_ENST00000369752.5_Missense_Mutation_p.R417Q	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	420	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R420Q(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTTCACAAATCGGCGGTTGGT	0.498																																						uc001eak.1																			1	Substitution - Missense(1)	p.R420Q(2)	ovary(1)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1258-1260)cGa>cAa		Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.							76	79	78					1																	111730833		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111730833C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1259G>A	1.37:g.111730833C>T	ENSP00000350266:p.Arg420Gln					DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	p.R420Q	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	10	1459	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	420			dDENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1259G>A	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817069	0.70912	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.39997	1.05;1.05	5.76	5.76	0.90799	dDENN (3);	0.180128	0.45606	D	0.000347	T	0.25195	0.0612	L	0.45051	1.395	0.36122	D	0.845546	P;P	0.47545	0.847;0.897	B;B	0.41440	0.243;0.357	T	0.03706	-1.1011	10	0.19590	T	0.45	-8.845	17.8133	0.88623	0.0:1.0:0.0:0.0	.	417;420	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	Q	420;417	ENSP00000350266:R420Q;ENSP00000358767:R417Q	ENSP00000350266:R420Q	R	-	2	0	DENND2D	111532356	0.691000	0.27709	0.995000	0.50966	0.972000	0.66771	1.495000	0.35627	2.882000	0.98803	0.655000	0.94253	CGA		0.498	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		T	111730833	C	T	111730833	3	4	96	1	0	0	0	0	1	0	0	0	4431	884	31	2	164	2	DENND2D	1	111730833	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	239925	111730833	137519788	9	6378											
VANGL1	81839	broad.mit.edu	37	chr1	116226676	116226676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggccgaacatgaacggcGagtaaagaagcggaaagcaa	18	2	14	7	4	0	3	0	1	0	2	0	6	0	4	1	3	4	2	1	3	7	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:116226676G>A	ENST00000355485.2	+	6	1329	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	VANGL1_ENST00000310260.3_Missense_Mutation_p.R353Q|VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369509.1_Missense_Mutation_p.R353Q|VANGL1_ENST00000369510.4_Missense_Mutation_p.R351Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	353					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATGAACGGCGAGTAAAGAAG	0.438																																						uc001efv.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(1057-1059)cGa>cAa		Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.							76	68	71					1																	116226676		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116226676G>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1058G>A	1.37:g.116226676G>A	ENSP00000347672:p.Arg353Gln					VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q|VANGL1_uc021ose.1_Missense_Mutation_p.R353Q	p.R353Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	1329	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	353					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1058G>A	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471083	0.84533	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62560	0.845;0.904	D	0.92846	0.6293	10	0.87932	D	0	-0.3978	17.6175	0.88071	0.0:0.0:1.0:0.0	.	351;353	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	353;351;353;353	ENSP00000347672:R353Q;ENSP00000358523:R351Q;ENSP00000310800:R353Q;ENSP00000358522:R353Q	ENSP00000310800:R353Q	R	+	2	0	VANGL1	116028199	1.000000	0.71417	0.999000	0.59377	0.127000	0.20565	9.192000	0.94947	2.366000	0.80165	0.551000	0.68910	CGA		0.438	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			A	116226676	G	A	116226676	3	1	96	1	0	0	0	0	1	0	0	0	17116	1058	37	2	1076	2	VANGL1	1	116226676	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4495843	116226676	133023945	10	6379											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273241	145273241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgagacccctgtgagaagaAccgctgccagaatggtggga	11	6	14	10	2	0	4	0	1	0	4	1	7	0	5	4	2	2	1	4	2	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:145273241A>G	ENST00000369340.3	+	4	539	c.95A>G	c.(94-96)aAc>aGc	p.N32S	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.N32S|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.N32S|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.N32S			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	32	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGAGAAGAACCGCTGCCAG	0.532																																						uc001emn.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(94-96)aAc>aGc		Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.							67	70	69					1																	145273241		2202	4278	6480	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273241A>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.95A>G	1.37:g.145273241A>G	ENSP00000358346:p.Asn32Ser					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.N32S|NOTCH2NL_uc001emo.2_Missense_Mutation_p.N32S|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	p.N32S	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			2	465	+			32			EGF-like 2.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.95A>G	CCDS909.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377286	0.11466	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.94723	-3.5;-3.5;-3.5	2.75	1.44	0.22558	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81809	0.4901	L	0.31371	0.925	0.21675	N	0.999591	P;P	0.39883	0.644;0.693	B;B	0.43838	0.287;0.433	T	0.74717	-0.3571	9	0.09843	T	0.71	.	6.3598	0.21422	0.5668:0.4332:0.0:0.0	.	32;32	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	S	32	ENSP00000354929:N32S;ENSP00000344557:N32S;ENSP00000358346:N32S	ENSP00000344557:N32S	N	+	2	0	NOTCH2NL	143984598	0.445000	0.25657	1.000000	0.80357	0.983000	0.72400	0.976000	0.29462	1.256000	0.44068	0.324000	0.21423	AAC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		G	145273241	A	G	145273241	3	3	96	1	0	0	0	0	1	0	0	0	10549	43	2	4	101	4	NOTCH2NL	1	145273241	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	29046565	145273241	103977380	11	6380											
CHD1L	9557	broad.mit.edu	37	chr1	146766154	146766154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taactggtatggtactgagcGacttattcggaaacatctgg	11	12	11	7	2	1	1	0	1	1	0	2	3	1	2	0	4	4	2	0	4	5	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:146766154G>A	ENST00000369258.4	+	22	2590	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	CHD1L_ENST00000361293.5_Missense_Mutation_p.R576Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.R653Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R763Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	857	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GGTACTGAGCGACTTATTCGG	0.423																																						uc001epm.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2569-2571)cGa>cAa		Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.							277	239	252					1																	146766154		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146766154G>A	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2570G>A	1.37:g.146766154G>A	ENSP00000358262:p.Arg857Gln					CHD1L_uc001epn.4_Missense_Mutation_p.R744Q|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.R763Q|CHD1L_uc010ozp.2_Missense_Mutation_p.R576Q|CHD1L_uc001epo.4_Missense_Mutation_p.R653Q|CHD1L_uc009wji.3_Missense_Mutation_p.R576Q	p.R857Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			21	2633	+	all_hematologic(923;0.0487)		857			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.2570G>A	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422622	0.96111	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.7	5.7	0.88788	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	L	0.48642	1.525	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.983	T	0.51787	-0.8661	10	0.72032	D	0.01	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	763;653;857	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	763;653;857;576	ENSP00000389031:R763Q;ENSP00000358263:R653Q;ENSP00000358262:R857Q;ENSP00000355100:R576Q	ENSP00000355100:R576Q	R	+	2	0	CHD1L	145232778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.599000	0.90856	2.696000	0.92011	0.655000	0.94253	CGA		0.423	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		A	146766154	G	A	146766154	3	1	96	1	0	0	0	0	1	0	0	0	3324	1058	37	2	2656	2	CHD1L	1	146766154	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1492913	146766154	102484467	12	6381											
INSRR	3645	broad.mit.edu	37	chr1	156823811	156823811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggcagtgccacgtcacGcagatgtggcatctcaaaga	11	7	12	11	2	2	2	2	0	1	2	3	2	2	2	1	2	2	4	1	2	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:156823811G>A	ENST00000368195.3	-	2	766	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	124					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACGTCACGCAGATGTGGC	0.622																																						uc010pht.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(370-372)Cgt>Tgt		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.							54	49	51					1																	156823811		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823811G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.370C>T	1.37:g.156823811G>A	ENSP00000357178:p.Arg124Cys					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.R124C	p.R124C	NM_014215	NP_055030	P14616	INSRR_HUMAN			1	669	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		124					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.370C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470830	0.43942	.	.	ENSG00000027644	ENST00000368195	T	0.80566	-1.39	5.06	2.92	0.33932	EGF receptor, L domain (1);	0.000000	0.44902	D	0.000413	D	0.86008	0.5830	.	.	.	0.49389	D	0.999787	D	0.89917	1.0	D	0.87578	0.998	D	0.87745	0.2588	9	0.87932	D	0	.	11.756	0.51875	0.0:0.0:0.5928:0.4072	.	124	P14616	INSRR_HUMAN	C	124	ENSP00000357178:R124C	ENSP00000357178:R124C	R	-	1	0	INSRR	155090435	0.996000	0.38824	0.952000	0.39060	0.187000	0.23431	1.724000	0.38064	1.114000	0.41781	0.557000	0.71058	CGT		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		A	156823811	G	A	156823811	3	1	96	1	0	0	0	0	1	0	0	0	7774	1087	38	1	3606	1	INSRR	1	156823811	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10057657	156823811	92426810	13	6382											
CD84	8832	broad.mit.edu	37	chr1	160535290	160535290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtcttccatcctcagatCgctaatgaccagattgtagt	9	13	8	11	2	2	3	1	1	1	2	5	3	4	3	3	0	1	2	3	0	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:160535290C>T	ENST00000311224.4	-	2	358	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CD84_ENST00000368054.3_Missense_Mutation_p.D98N|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.D98N|CD84_ENST00000368048.3_Missense_Mutation_p.D98N|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	98	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCTCAGATCGCTAATGACC	0.463																																						uc001fwh.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(292-294)Gat>Aat		Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.							334	269	291					1																	160535290		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535290C>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.292G>A	1.37:g.160535290C>T	ENSP00000312367:p.Asp98Asn					CD84_uc001fwf.4_Missense_Mutation_p.D98N|CD84_uc009wtn.3_Missense_Mutation_p.D98N|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.D98N|CD84_uc001fwj.3_Missense_Mutation_p.D98N|CD84_uc001fwk.3_Missense_Mutation_p.D98N	p.D98N	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	371	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		98					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.292G>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186176	0.01620	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.11	-1.27	0.09347	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.927542	0.09238	N	0.829606	T	0.00845	0.0028	N	0.00382	-1.575	0.09310	N	1	B;B;B;B;B;B	0.12630	0.006;0.006;0.005;0.003;0.005;0.005	B;B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.002;0.002	T	0.47674	-0.9099	10	0.02654	T	1	-0.9915	4.6458	0.12572	0.0:0.1657:0.3422:0.4922	.	98;98;98;98;98;98	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	N	98	ENSP00000357033:D98N;ENSP00000357027:D98N;ENSP00000312367:D98N;ENSP00000357030:D98N;ENSP00000353163:D98N;ENSP00000357026:D98N	ENSP00000312367:D98N	D	-	1	0	CD84	158801914	0.000000	0.05858	0.004000	0.12327	0.474000	0.32979	-1.013000	0.03645	-0.012000	0.14223	-0.218000	0.12543	GAT		0.463	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		T	160535290	C	T	160535290	3	4	96	1	0	0	0	0	1	0	0	0	3042	884	31	2	773	2	CD84	1	160535290	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3711479	160535290	88715331	14	6383											
BLZF1	8548	broad.mit.edu	37	chr1	169347745	169347745	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatacagtgtgatgtatggCgaagtaaattccttgcaagc	13	11	10	7	1	0	1	0	1	0	0	1	2	1	1	1	1	3	3	1	1	7	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:169347745C>T	ENST00000367808.3	+	4	1069	c.646C>T	c.(646-648)Cga>Tga	p.R216*	BLZF1_ENST00000329281.2_Nonsense_Mutation_p.R216*			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	216					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.R216*(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TGATGTATGGCGAAGTAAATT	0.363																																						uc001gfx.2																			2	Substitution - Nonsense(2)	p.R216*(4)|p.R216Q(1)	large_intestine(1)|endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(646-648)Cga>Tga		Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.							95	97	97					1																	169347745		2203	4300	6503	SO:0001587	stop_gained	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169347745C>T	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.646C>T	1.37:g.169347745C>T	ENSP00000356782:p.Arg216*					BLZF1_uc001gfy.3_Nonsense_Mutation_p.R216*|BLZF1_uc009wvp.1_Nonsense_Mutation_p.R193*	p.R216*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			3	1083	+	all_hematologic(923;0.208)		216					O15298|Q5T531|Q5T533|Q9GZX4	Nonsense_Mutation	SNP	ENST00000367808.3	37	c.646C>T	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062399	0.97246	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	.	.	.	6.17	4.25	0.50352	.	0.055634	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7065	15.4433	0.75204	0.3705:0.6295:0.0:0.0	.	.	.	.	X	216	.	ENSP00000327541:R216X	R	+	1	2	BLZF1	167614369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.079000	0.50104	0.864000	0.35578	0.655000	0.94253	CGA		0.363	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		T	169347745	C	T	169347745	4	4	96	1	0	0	0	0	0	1	0	0	1453	760	27	1	656	1	BLZF1	1	169347745	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8812455	169347745	79902876	15	6384											
CENPF	1063	broad.mit.edu	37	chr1	214837072	214837072	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagggtcaagcgaggcCgacttgtccccagccccaaa	9	5	12	15	2	1	1	1	1	0	0	2	3	2	1	6	2	2	0	6	2	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:214837072C>T	ENST00000366955.3	+	20	9448	c.9280C>T	c.(9280-9282)Cga>Tga	p.R3094*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3190	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAGCGAGGCCGACTTGTCCC	0.582																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(9280-9282)Cga>Tga		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							47	43	44					1																	214837072		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214837072C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9280C>T	1.37:g.214837072C>T	ENSP00000355922:p.Arg3094*						p.R3094*	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	19	9454	+			3190			Sufficient for centromere localization.|Sufficient for nuclear localization.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.9280C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	49	15.396146	0.99832	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.2	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.6188	0.08087	0.2739:0.5584:0.0:0.1677	.	.	.	.	X	3094	.	ENSP00000355922:R3094X	R	+	1	2	CENPF	212903695	0.000000	0.05858	0.022000	0.16811	0.264000	0.26372	0.605000	0.24179	0.983000	0.38602	0.563000	0.77884	CGA		0.582	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214837072	C	T	214837072	4	4	96	1	0	0	0	0	0	1	0	0	3231	644	23	2	9354	2	CENPF	1	214837072	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	45489327	214837072	34413549	16	6385											
GNPAT	8443	broad.mit.edu	37	chr1	231401503	231401503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgaagggacaagaagcCgctctgccaagacattgact	12	7	10	12	2	1	3	0	1	1	2	3	5	2	4	3	1	2	1	3	1	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:231401503C>T	ENST00000366647.4	+	6	911	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GNPAT_ENST00000366646.3_Missense_Mutation_p.R187C	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	248					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GACAAGAAGCCGCTCTGCCAA	0.378																																						uc001hup.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(742-744)Cgc>Tgc		Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.							66	68	67					1																	231401503		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401503C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.742C>T	1.37:g.231401503C>T	ENSP00000355607:p.Arg248Cys					GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.3_Missense_Mutation_p.R187C	p.R248C	NM_014236	NP_055051	O15228	GNPAT_HUMAN			5	948	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	248					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.742C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302845	0.81136	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	5.31	5.31	0.75309	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99000	1.0811	10	0.87932	D	0	.	14.2145	0.65783	0.1494:0.8506:0.0:0.0	.	187;248	B4DNM9;O15228	.;GNPAT_HUMAN	C	187;248;187;238	ENSP00000402811:R187C;ENSP00000355607:R248C;ENSP00000355606:R187C;ENSP00000411640:R238C	ENSP00000355606:R187C	R	+	1	0	GNPAT	229468126	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.307000	0.51888	2.643000	0.89663	0.467000	0.42956	CGC		0.378	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			T	231401503	C	T	231401503	3	4	96	1	0	0	0	0	1	0	0	0	6541	652	23	2	764	2	GNPAT	1	231401503	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	16564431	231401503	17849118	17	6386											
RYR2	6262	broad.mit.edu	37	chr1	237729890	237729890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccgaagtgtgcagcGgcaccggggaaaggttccga	10	4	16	11	4	0	1	0	0	0	1	1	4	1	2	4	4	3	3	4	4	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:237729890G>A	ENST00000366574.2	+	28	3555	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1078S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1064S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1080	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGTGCAGCGGCACCGGGGA	0.502																																						uc001hyl.1																			0		p.T1079T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3238-3240)Ggc>Agc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							52	53	53					1																	237729890		1903	4129	6032	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729890G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3238G>A	1.37:g.237729890G>A	ENSP00000355533:p.Gly1080Ser						p.G1080S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		27	3358	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1080			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3238G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701651	0.15172	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96200	-3.94;-3.91;-3.93	5.29	3.43	0.39272	B30.2/SPRY domain (1);	0.188809	0.34338	N	0.004051	T	0.79221	0.4409	N	0.00260	-1.75	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.72391	-0.4308	10	0.08381	T	0.77	.	11.1149	0.48254	0.1481:0.0:0.8519:0.0	.	1080	Q92736	RYR2_HUMAN	S	1080;1078;1064	ENSP00000355533:G1080S;ENSP00000353174:G1078S;ENSP00000443798:G1064S	ENSP00000353174:G1078S	G	+	1	0	RYR2	235796513	0.893000	0.30496	0.741000	0.31004	0.602000	0.36980	1.522000	0.35921	0.618000	0.30179	0.655000	0.94253	GGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237729890	G	A	237729890	3	1	96	1	0	0	0	0	1	0	0	0	13769	1116	39	2	3348	2	RYR2	1	237729890	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	6328387	237729890	11520731	18	6387											
WDR64	128025	broad.mit.edu	37	chr1	241946599	241946599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagctgctttcctggcGtgctcattctttggaaatta	8	14	9	10	1	2	0	1	0	1	0	3	1	3	1	1	2	4	4	1	2	3	4	rs141496101	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:241946599G>A	ENST00000366552.2	+	22	2798	c.2591G>A	c.(2590-2592)cGt>cAt	p.R864H	WDR64_ENST00000437684.2_Missense_Mutation_p.R697H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTCCTGGCGTGCTCATTCT	0.373													G|||	3	0.000599042	8e-04	0	5008	,	,		20149	0.002		0	False		,,,				2504	0					uc001hzg.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2590-2592)cGt>cAt		Homo sapiens WD repeat domain 64 (WDR64), mRNA.		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	71	67	69		2591	5.7	1	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense	WDR64	NM_144625.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	864/1082	241946599	2,13004	2203	4300	6503	SO:0001583	missense	128025							g.chr1:241946599G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2591G>A	1.37:g.241946599G>A	ENSP00000355510:p.Arg864His					WDR64_uc021plh.1_Missense_Mutation_p.R491H|WDR64_uc021pli.1_Missense_Mutation_p.R417H	p.R864H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		21	2798	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	864					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.2591G>A		3|3	0.0013736263736263737|0.0013736263736263737	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	G|G	18.37|18.37	3.609944|3.609944	0.66558|0.66558	4.54E-4|4.54E-4	0.0|0.0	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.50001|.	0.76;0.91;0.76|.	5.66|5.66	5.66|5.66	0.87406|0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.102421|.	0.43416|.	D|.	0.000562|.	T|T	0.67757|0.67757	0.2927|0.2927	M|M	0.76002|0.76002	2.32|2.32	0.30061|0.30061	N|N	0.810874|0.810874	D;P|.	0.89917|.	1.0;0.469|.	D;B|.	0.81914|.	0.995;0.029|.	T|T	0.67162|0.67162	-0.5740|-0.5740	10|5	0.42905|.	T|.	0.14|.	-6.1842|-6.1842	16.6706|16.6706	0.85266|0.85266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	864;417|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	864;697;468|343	ENSP00000355510:R864H;ENSP00000402446:R697H;ENSP00000406656:R468H|.	ENSP00000355510:R864H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240013222|240013222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.891000|3.891000	0.56227|0.56227	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.373	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		A	241946599	G	A	241946599	3	1	96	1	0	0	0	0	1	0	0	0	17312	1145	40	1	2677	1	WDR64	1	241946599	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4216709	241946599	7304022	19	6388											
ASAP2	8853	broad.mit.edu	37	chr2	9517083	9517083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtcagatccgtggatcGaacctctcttcacattgtag	9	12	9	11	2	3	1	2	0	1	1	6	3	4	2	2	1	2	2	2	1	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:9517083G>A	ENST00000281419.3	+	18	2133	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ASAP2_ENST00000315273.4_Missense_Mutation_p.R598Q	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	598					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448																																						uc002qzh.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1792-1794)cGa>cAa		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.							134	141	139					2																	9517083		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9517083G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1793G>A	2.37:g.9517083G>A	ENSP00000281419:p.Arg598Gln					ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	p.R598Q	NM_003887	NP_003878	O43150	ASAP2_HUMAN			17	2133	+			598					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1793G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510622	0.85389	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.64618	-0.11;-0.11	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.72338	0.977;0.925	T	0.58842	-0.7565	10	0.06757	T	0.87	.	19.2922	0.94105	0.0:0.0:1.0:0.0	.	598;598	O43150-2;O43150	.;ASAP2_HUMAN	Q	598	ENSP00000281419:R598Q;ENSP00000316404:R598Q	ENSP00000281419:R598Q	R	+	2	0	ASAP2	9434534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.547000	0.85894	0.655000	0.94253	CGA		0.448	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		A	9517083	G	A	9517083	3	1	96	1	0	0	0	0	1	0	0	0	1011	1058	37	2	1863	2	ASAP2	2	9517083	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		9517083	233682290	20	6389											
GALNT14	79623	broad.mit.edu	37	chr2	31167749	31167749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccgtggggtccaggcGccgagccttctgctctgggg	2	8	18	13	3	2	0	0	0	2	0	4	1	4	0	4	6	2	2	4	6	0	1	rs143143842		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:31167749G>A	ENST00000349752.5	-	8	1441	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	GALNT14_ENST00000406653.1_Missense_Mutation_p.R248C|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.R273C|GALNT14_ENST00000420311.2_Missense_Mutation_p.R233C|GALNT14_ENST00000356174.3_Missense_Mutation_p.R235C	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	268					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R268C(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTCCAGGCGCCGAGCCTTC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		16837	0		0	False		,,,				2504	0					uc002rns.3																			1	Substitution - Missense(1)	p.R268C(1)	large_intestine(1)	cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(817-819)Cgc>Tgc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.							63	63	63					2																	31167749		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31167749G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.802C>T	2.37:g.31167749G>A	ENSP00000288988:p.Arg268Cys					GALNT14_uc002rnq.3_Missense_Mutation_p.R248C|GALNT14_uc010ymr.2_Missense_Mutation_p.R233C|GALNT14_uc002rnr.3_Missense_Mutation_p.R268C|GALNT14_uc010ezo.2_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	p.R273C	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN			8	1457	-	Acute lymphoblastic leukemia(172;0.155)		268					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.817C>T	CCDS1773.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.5	4.419254	0.83559	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;P;D;D	0.79108	0.979;0.942;0.787;0.992;0.975	D	0.90522	0.4489	10	0.87932	D	0	.	18.5157	0.90935	0.0:0.0:1.0:0.0	.	233;235;273;268;248	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	268;273;248;235;233;235	ENSP00000288988:R268C;ENSP00000314500:R273C;ENSP00000385435:R248C;ENSP00000348497:R235C;ENSP00000415514:R233C;ENSP00000406399:R235C	ENSP00000314500:R273C	R	-	1	0	GALNT14	31021253	1.000000	0.71417	0.982000	0.44146	0.947000	0.59692	3.377000	0.52425	2.544000	0.85801	0.313000	0.20887	CGC		0.587	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31167749	G	A	31167749	3	1	96	1	0	0	0	0	1	0	0	0	6212	1087	38	1	888	1	GALNT14	2	31167749	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	21650666	31167749	212031624	21	6390											
ARHGAP25	9938	broad.mit.edu	37	chr2	69034467	69034467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaattcggcccccatctgGtgcccatcctggtggagaaa	10	8	11	12	1	1	2	0	0	1	2	3	3	2	2	4	4	1	0	4	4	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:69034467G>A	ENST00000295381.3	+	5	945	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V177M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.V151M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V170M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V137M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V170M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V169M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	176	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCCCCATCTGGTGCCCATCCT	0.562																																						uc010fdg.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(529-531)Gtg>Atg		Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.							103	94	97					2																	69034467		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69034467G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.526G>A	2.37:g.69034467G>A	ENSP00000295381:p.Val176Met					ARHGAP25_uc010yqk.2_Missense_Mutation_p.V151M|ARHGAP25_uc010yql.2_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.3_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.3_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.3_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_Non-coding_Transcript	p.V177M	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			4	948	+			176			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.529G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.093837|6.093837	0.97276|0.97276	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533|ENST00000497259	T;T;T;T;T;T;T|.	0.52057|.	0.68;0.68;2.44;2.44;0.68;2.44;2.44|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.058321|.	0.64402|.	D|.	0.000002|.	T|.	0.82181|.	0.4981|.	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.65815|.	0.993;0.995;0.992;0.992;0.992;0.992;0.986|.	D;D;P;P;P;P;P|.	0.66196|.	0.915;0.942;0.808;0.808;0.808;0.731;0.764|.	D|.	0.84356|.	0.0535|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.1999|17.1999	0.86903|0.86903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;151;177;170;169;170;176|.	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;.;RHG25_HUMAN|.	M|X	151;176;177;137;169;170;170;170;161|35	ENSP00000439917:V151M;ENSP00000295381:V176M;ENSP00000386911:V177M;ENSP00000420583:V137M;ENSP00000386863:V169M;ENSP00000386241:V170M;ENSP00000417139:V170M|.	ENSP00000295381:V176M|.	V|W	+|+	1|3	0|0	ARHGAP25|ARHGAP25	68887971|68887971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.374000|9.374000	0.97172|0.97172	2.545000|2.545000	0.85829|0.85829	0.555000|0.555000	0.69702|0.69702	GTG|TGG		0.562	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69034467	G	A	69034467	3	1	96	1	0	0	0	0	1	0	0	0	874	1261	44	3	587	3	ARHGAP25	2	69034467	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	37866718	69034467	174164906	22	6391											
C2orf68	388969	broad.mit.edu	37	chr2	85836146	85836146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgggtggatccagaggCgtgtgtgccgacaccttctc	6	9	14	12	3	1	1	0	0	1	1	3	3	2	2	3	3	1	1	3	3	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:85836146C>T	ENST00000306336.5	-	4	467	c.423G>A	c.(421-423)acG>acA	p.T141T	C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	141										breast(1)|central_nervous_system(1)|endometrium(1)	3						GATCCAGAGGCGTGTGTGCCG	0.572																																						uc002sqc.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)	3						c.(421-423)acG>acA		Homo sapiens chromosome 2 open reading frame 68 (C2orf68), mRNA.							106	104	105					2																	85836146		2056	4207	6263	SO:0001819	synonymous_variant	388969							g.chr2:85836146C>T		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.423G>A	2.37:g.85836146C>T						USP39_uc002sqb.3_Intron	p.T141T	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN			3	495	-			141					B4DT10|Q4G0J7|Q6ZVA6	Silent	SNP	ENST00000306336.5	37	c.423G>A	CCDS42704.1																																																																																				0.572	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649		T	85836146	C	T	85836146	2	4	96	1	0	0	0	0	0	0	0	1	2187	755	27	1		1	C2orf68	2	85836146	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	16801679	85836146	157363227	23	6392											
TBC1D8	11138	broad.mit.edu	37	chr2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgaacagtccacaaccGcgtgcagcttctccttcctc	9	8	8	16	3	1	1	0	0	1	1	5	2	3	1	4	0	5	2	4	0	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:101656773G>A	ENST00000376840.4	-	6	901	c.902C>T	c.(901-903)gCg>gTg	p.A301V	TBC1D8_ENST00000409318.1_Missense_Mutation_p.A316V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	301	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTCCACAACCGCGTGCAGCTT	0.577																																						uc010fiv.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(901-903)gCg>gTg		Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.							43	47	46					2																	101656773		2000	4179	6179	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101656773G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.902C>T	2.37:g.101656773G>A	ENSP00000366036:p.Ala301Val					TBC1D8_uc010yvw.2_Missense_Mutation_p.A316V|TBC1D8_uc002tau.4_Missense_Mutation_p.A58V	p.A301V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			5	1033	-			301			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.902C>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576400	0.28092	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	D;D	0.87650	-2.28;-2.28	5.86	1.62	0.23740	GRAM (2);	0.422463	0.23532	N	0.047167	T	0.69405	0.3107	N	0.14661	0.345	0.19300	N	0.999972	P;P	0.43607	0.812;0.502	B;B	0.33568	0.166;0.164	T	0.64206	-0.6462	10	0.54805	T	0.06	-6.7779	5.7659	0.18227	0.1668:0.0:0.3267:0.5065	.	316;301	B7Z6L4;O95759	.;TBCD8_HUMAN	V	301;316	ENSP00000366036:A301V;ENSP00000386856:A316V	ENSP00000366036:A301V	A	-	2	0	TBC1D8	101023205	0.196000	0.23350	0.001000	0.08648	0.049000	0.14656	1.634000	0.37123	0.380000	0.24823	-0.182000	0.12963	GCG		0.577	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		A	101656773	G	A	101656773	3	1	96	1	0	0	0	0	1	0	0	0	15622	1087	38	1	2580	1	TBC1D8	2	101656773	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	15820627	101656773	141542600	24	6393											
TUBA3D	113457	broad.mit.edu	37	chr2	132238322	132238322	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgactggatttaaGgtatgactgggtgatgtgga	8	12	16	5	1	0	2	0	2	0	0	0	5	0	4	1	5	1	1	1	5	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:132238322G>T	ENST00000321253.6	+	4	1163	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	352					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGGATTTAAGGTATGACTGG	0.552																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.e4+1		Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.							70	68	68					2																	132238322		2203	4300	6503	SO:0001630	splice_region_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238322G>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1056+1G>T	2.37:g.132238322G>T							p.K352_splice	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	1249	+			352					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.1056_splice	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	7.353	0.623310	0.14193	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.84589	-1.87	2.24	2.24	0.28232	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.48286	U	0.000193	D	0.95076	0.8405	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93688	0.7004	10	0.87932	D	0	.	7.9601	0.30066	0.0:0.0:1.0:0.0	.	352	Q13748	TBA3C_HUMAN	N	352	ENSP00000326042:K352N	ENSP00000326042:K352N	K	+	3	2	TUBA3D	131954792	1.000000	0.71417	0.958000	0.39756	0.239000	0.25481	6.288000	0.72679	1.243000	0.43853	0.194000	0.17425	AAG		0.552	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	Missense_Mutation	T	132238322	G	T	132238322	5	4	96	1	0	0	0	0	0	0	1	0	16744	1014	35	5	1070	5	TUBA3D	2	132238322	Splice_Site	SNP	G	TCGA-06-5858-01A-01D-1696-08	30581549	132238322	110961051	25	6394											
TANC1	85461	broad.mit.edu	37	chr2	160074082	160074082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggagctgctgtgtcgCggacaaacaggagaggggtt	9	7	18	7	2	0	1	0	0	0	1	1	4	0	3	0	6	3	4	0	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:160074082C>T	ENST00000263635.6	+	20	3556	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1001W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1107					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGTGTCGCGGACAAACAG	0.597																																						uc002uag.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3319-3321)Cgg>Tgg		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.							91	102	99					2																	160074082		2061	4228	6289	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160074082C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3319C>T	2.37:g.160074082C>T	ENSP00000263635:p.Arg1107Trp					TANC1_uc010zcm.2_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.3_5'UTR	p.R1107W	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			19	3593	+			1107					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3319C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172367	0.78452	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.65732	-0.12;-0.17	5.91	4.96	0.65561	Ankyrin repeat-containing domain (3);	0.236274	0.44483	D	0.000442	T	0.71863	0.3390	L	0.60012	1.86	0.43152	D	0.99492	D;D;D	0.71674	0.998;0.994;0.996	P;P;P	0.58970	0.817;0.721;0.849	T	0.70360	-0.4893	10	0.38643	T	0.18	.	16.1905	0.81986	0.1772:0.8228:0.0:0.0	.	1099;1001;1107	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	W	1001;1107	ENSP00000396339:R1001W;ENSP00000263635:R1107W	ENSP00000263635:R1107W	R	+	1	2	TANC1	159782328	0.992000	0.36948	0.499000	0.27577	0.713000	0.41058	3.207000	0.51106	2.813000	0.96785	0.655000	0.94253	CGG		0.597	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			T	160074082	C	T	160074082	3	4	96	1	0	0	0	0	1	0	0	0	15541	759	27	1	3389	1	TANC1	2	160074082	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	27835760	160074082	83125291	26	6395											
TTN	7273	broad.mit.edu	37	chr2	179396884	179396884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagcatgttttgagatttCgtattcttcctcaatttctg	7	20	7	7	1	3	2	1	2	2	1	5	3	4	2	1	0	1	3	1	0	2	8			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:179396884C>T	ENST00000591111.1	-	308	99759	c.99535G>A	c.(99535-99537)Gaa>Aaa	p.E33179K	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25880K|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32252K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25755K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25947K|TTN_ENST00000589042.1_Missense_Mutation_p.E34820K|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33179					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E32250K(1)|p.E25880K(1)|p.E25947K(1)|p.E25755K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAGATTTCGTATTCTTCC	0.413																																						uc021vsy.1																			4	Substitution - Missense(4)	p.E32250K(1)|p.E25880K(1)|p.E25947K(1)|p.E25755K(1)	skin(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(96754-96756)Gaa>Aaa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							97	94	95					2																	179396884		1958	4140	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396884C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99535G>A	2.37:g.179396884C>T	ENSP00000465570:p.Glu33179Lys					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25947K|TTN_uc021vta.1_Missense_Mutation_p.E25880K|TTN_uc021vtb.1_Missense_Mutation_p.E25755K|TTN_uc002umq.3_5'Flank	p.E32252K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	96979	-			33179			Protein kinase.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.96754G>A		.	.	.	.	.	.	.	.	.	.	C	12.43	1.934179	0.34096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.18;0.16;0.15	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46698	0.1406	N	0.19112	0.55	0.37996	D	0.934087	P;P;P;P	0.44521	0.837;0.837;0.837;0.837	B;B;B;B	0.31946	0.138;0.138;0.138;0.138	T	0.60826	-0.7186	9	0.87932	D	0	.	19.1016	0.93276	0.0:1.0:0.0:0.0	.	25755;25880;25947;33179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32252;25755;25947;25880;25752	ENSP00000343764:E32252K;ENSP00000434586:E25755K;ENSP00000340554:E25947K;ENSP00000352154:E25880K	ENSP00000340554:E25947K	E	-	1	0	TTN	179105130	0.919000	0.31177	0.705000	0.30386	0.399000	0.30720	1.900000	0.39828	2.611000	0.88343	0.650000	0.86243	GAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179396884	C	T	179396884	3	4	96	1	0	0	0	0	1	0	0	0	16732	893	31	2	3541	2	TTN	2	179396884	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	19322802	179396884	63802489	27	6396											
SPATS2L	26010	broad.mit.edu	37	chr2	201337625	201337625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgctgaatgcgcaCgcagcaacctctgggaaaca	10	7	10	14	2	2	1	0	1	2	0	2	2	2	2	2	1	6	4	2	1	3	0	rs376312723		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:201337625C>T	ENST00000358677.5	+	12	1378	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	SPATS2L_ENST00000451764.2_Silent_p.H377H|SPATS2L_ENST00000409988.3_Silent_p.H377H|SPATS2L_ENST00000360760.5_Silent_p.H308H|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409718.1_Silent_p.H377H|SPATS2L_ENST00000409151.1_Silent_p.H385H|SPATS2L_ENST00000409385.1_Silent_p.H317H|SPATS2L_ENST00000409755.3_Silent_p.H407H|SPATS2L_ENST00000409140.3_Silent_p.H377H	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	377						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGCGCACGCAGCAACCT	0.483																																						uc010zhc.2																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(1219-1221)caC>caT		Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.		C	,,,	1,3989		0,1,1994	82	87	86		1131,1131,924,1131	-0.1	0	2		86	0,8356		0,0,4178	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPATS2L	NM_001100422.1,NM_001100423.1,NM_001100424.1,NM_015535.2	,,,	0,1,6172	TT,TC,CC		0.0,0.0251,0.0081	,,,	377/559,377/559,308/490,377/559	201337625	1,12345	1995	4178	6173	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201337625C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1131C>T	2.37:g.201337625C>T						SPATS2L_uc002uvn.4_Silent_p.H377H|SPATS2L_uc010fst.3_Silent_p.H377H|SPATS2L_uc002uvo.4_Silent_p.H317H|SPATS2L_uc002uvp.4_Silent_p.H377H|SPATS2L_uc002uvq.4_Silent_p.H308H|SPATS2L_uc002uvr.4_Silent_p.H377H	p.H407H	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			11	1344	+			377					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.1221C>T	CCDS46483.1																																																																																				0.483	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		T	201337625	C	T	201337625	2	4	96	1	0	0	0	0	0	0	0	1	15019	535	19	1		1	SPATS2L	2	201337625	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	21940741	201337625	41861748	28	6397											
PID1	55022	broad.mit.edu	37	chr2	230020577	230020577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcagcggtgtggtcGtgcacagctcaatggcctcc	6	11	11	13	2	4	0	3	0	1	0	6	0	5	0	2	3	3	2	2	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:230020577G>A	ENST00000354069.6	-	2	263	c.233C>T	c.(232-234)aCg>aTg	p.T78M	PID1_ENST00000392054.3_Missense_Mutation_p.T76M|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.T45M			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	78					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CGGTGTGGTCGTGCACAGCTC	0.517																																						uc002vpr.4																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(232-234)aCg>aTg		Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.							116	109	111					2																	230020577		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:230020577G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.233C>T	2.37:g.230020577G>A	ENSP00000283937:p.Thr78Met					PID1_uc002vps.4_Missense_Mutation_p.T76M|PID1_uc002vpt.4_Missense_Mutation_p.T45M|PID1_uc002vpu.4_Intron	p.T78M	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	1	271	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	78					B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.233C>T		.	.	.	.	.	.	.	.	.	.	G	19.10	3.762756	0.69763	.	.	ENSG00000153823	ENST00000392054;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.74	5.74	0.90152	.	0.376195	0.30036	N	0.010568	T	0.64091	0.2567	N	0.24115	0.695	0.52501	D	0.99995	D;D;D	0.89917	0.994;1.0;0.998	P;D;P	0.67231	0.796;0.95;0.869	T	0.59736	-0.7398	8	.	.	.	-27.7907	19.2859	0.94069	0.0:0.0:1.0:0.0	.	45;76;78	Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;PCLI1_HUMAN	M	76;45;78;78	.	.	T	-	2	0	PID1	229728821	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.299000	0.96137	2.873000	0.98535	0.563000	0.77884	ACG		0.517	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		A	230020577	G	A	230020577	3	1	96	1	0	0	0	0	1	0	0	0	11882	1145	40	1	527	1	PID1	2	230020577	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	28682952	230020577	13178796	29	6398											
UGT1A9	54600	broad.mit.edu	37	chr2	234580843	234580843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccctggaggatctggaccGggagttcaaggcttttgccc	7	10	13	11	1	2	0	1	0	1	0	2	4	2	4	3	5	2	2	3	5	2	4	rs148603525	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234580843G>A	ENST00000354728.4	+	1	345	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R88Q			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	88					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R88L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GATCTGGACCGGGAGTTCAAG	0.408													G|||	2	0.000399361	0	0	5008	,	,		21083	0.002		0	False		,,,				2504	0					uc002vus.3																			1	Substitution - Missense(1)	p.R88L(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(262-264)cGg>cAg		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						102	98	99					2																	234580843		2203	4300	6503	SO:0001583	missense	54600				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234580843G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.263G>A	2.37:g.234580843G>A	ENSP00000346768:p.Arg88Gln					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R88Q	p.R88Q	NM_021027	NP_066307	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	300	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	90					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.263G>A	CCDS2505.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	5.383	0.255909	0.10185	.	.	ENSG00000241119	ENST00000354728	T	0.61510	0.1	3.45	-1.82	0.07857	.	.	.	.	.	T	0.33089	0.0851	N	0.20986	0.625	0.09310	N	1	B;B	0.27416	0.178;0.178	B;B	0.16289	0.015;0.015	T	0.13818	-1.0495	9	0.20519	T	0.43	.	5.0149	0.14331	0.4255:0.2155:0.359:0.0	.	88;88	Q5DSZ5;O60656	.;UD19_HUMAN	Q	88	ENSP00000346768:R88Q	ENSP00000346768:R88Q	R	+	2	0	UGT1A9	234245582	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-2.586000	0.00902	-0.242000	0.09667	0.446000	0.29264	CGG		0.408	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		A	234580843	G	A	234580843	3	1	96	1	0	0	0	0	1	0	0	0	16949	1116	39	2	265	2	UGT1A9	2	234580843	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4560266	234580843	8618530	30	6399											
TRPM8	79054	broad.mit.edu	37	chr2	234851383	234851383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaccctcatcaggaattgCgatgctgaggtaccggtggg	9	8	14	10	2	2	1	2	1	0	0	2	4	2	2	2	4	3	2	2	4	2	2	rs147774253		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234851383C>T	ENST00000324695.4	+	6	730	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRPM8_ENST00000409625.1_Silent_p.C153C|TRPM8_ENST00000355722.4_Silent_p.C180C|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	230					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCAGGAATTGCGATGCTGAGG	0.562													C|||	1	0.000199681	0	0	5008	,	,		19526	0		0	False		,,,				2504	0.001					uc002vvh.3																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(688-690)tgC>tgT		Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	Menthol(DB00825)	C		0,4406		0,0,2203	147	140	142		690	-9.2	0	2	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		230/1105	234851383	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234851383C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.690C>T	2.37:g.234851383C>T						TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.C180C|TRPM8_uc002vvj.3_Silent_p.C153C	p.C230C	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	5	730	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	230					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.690C>T	CCDS33407.1																																																																																				0.562	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		T	234851383	C	T	234851383	2	4	96	1	0	0	0	0	0	0	0	1	16589	776	27	1		1	TRPM8	2	234851383	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	270540	234851383	8347990	31	6400											
KIF1A	547	broad.mit.edu	37	chr2	241728662	241728662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccggcttactgaggtgtgCgaccagtaggagtagtcaaa	10	9	13	9	2	1	1	1	1	0	0	2	3	2	2	2	3	2	3	2	3	4	3	rs369088708		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:241728662C>T	ENST00000320389.7	-	3	332	c.174G>A	c.(172-174)tcG>tcA	p.S58S	KIF1A_ENST00000498729.2_Silent_p.S58S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	58	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGAGGTGTGCGACCAGTAGG	0.612																																						uc010fzk.3																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(172-174)tcG>tcA		Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.		C		0,4326		0,0,2163	63	73	69		174	-5.3	1	2		69	1,8575	1.2+/-3.3	0,1,4287	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6450	TT,TC,CC		0.0117,0.0,0.0078		58/1691	241728662	1,12901	2163	4288	6451	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241728662C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.174G>A	2.37:g.241728662C>T						KIF1A_uc002vzy.3_Silent_p.S58S|KIF1A_uc002vzz.2_Silent_p.S58S	p.S58S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	2	421	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	58			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.174G>A	CCDS46561.1																																																																																				0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		T	241728662	C	T	241728662	2	4	96	1	0	0	0	0	0	0	0	1	8283	755	27	1		1	KIF1A	2	241728662	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	6877279	241728662	1470711	32	6401											
IL5RA	3568	broad.mit.edu	37	chr3	3139680	3139680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcctgggaaaccagcatgCgatatttctccccagtgtgt	9	11	10	11	1	1	0	0	0	1	0	3	2	2	1	4	1	3	1	4	1	2	2	rs569914205		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:3139680C>T	ENST00000446632.2	-	7	1157	c.583G>A	c.(583-585)Gca>Aca	p.A195T	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.A195T|IL5RA_ENST00000418488.2_Missense_Mutation_p.A195T|IL5RA_ENST00000311981.8_Missense_Mutation_p.A195T|IL5RA_ENST00000438560.1_Missense_Mutation_p.A195T|IL5RA_ENST00000383846.1_Missense_Mutation_p.A195T|IL5RA_ENST00000256452.3_Missense_Mutation_p.A195T|IL5RA_ENST00000456302.1_Missense_Mutation_p.A195T	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	195					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.A195S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACCAGCATGCGATATTTCTC	0.483													C|||	1	0.000199681	0	0	5008	,	,		20641	0		0	False		,,,				2504	0.001				GBM(169;430 2801 24955 28528)	uc011ask.2																			1	Substitution - Missense(1)	p.A195S(2)	lung(1)	cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(583-585)Gca>Aca		Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.							174	149	157					3																	3139680		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139680C>T	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.583G>A	3.37:g.3139680C>T	ENSP00000412209:p.Ala195Thr					IL5RA_uc010hbq.3_Missense_Mutation_p.A195T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.A195T|IL5RA_uc011asl.2_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	p.A195T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	7	1227	-			195					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.583G>A	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757241	0.89843	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.91	5.91	0.95273	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.265673	0.32836	N	0.005589	T	0.74512	0.3726	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.75484	0.977;0.939;0.93;0.986;0.932	T	0.76271	-0.3020	10	0.62326	D	0.03	-29.8215	17.0178	0.86424	0.0:1.0:0.0:0.0	.	195;195;195;195;195	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	T	195	ENSP00000412209:A195T;ENSP00000390753:A195T;ENSP00000256452:A195T;ENSP00000388858:A195T;ENSP00000373358:A195T;ENSP00000309196:A195T;ENSP00000400400:A195T;ENSP00000392059:A195T;ENSP00000398117:A195T	ENSP00000256452:A195T	A	-	1	0	IL5RA	3114680	0.448000	0.25681	0.079000	0.20413	0.302000	0.27658	4.821000	0.62679	2.793000	0.96121	0.655000	0.94253	GCA		0.483	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			T	3139680	C	T	3139680	3	4	96	1	0	0	0	0	1	0	0	0	7700	768	27	1	729	1	IL5RA	3	3139680	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		3139680	194882750	33	6402											
SCN5A	6331	broad.mit.edu	37	chr3	38620857	38620857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctggggttccgcttTccactgctgccgccagtcgg	2	10	15	14	3	0	0	0	0	0	0	3	0	2	0	5	5	2	3	5	5	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:38620857T>C	ENST00000333535.4	-	18	3507	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	SCN5A_ENST00000414099.2_Missense_Mutation_p.K1120E|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1119E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1119E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1119E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1120E|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Missense_Mutation_p.K1120E			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1120					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTCCGCTTTCCACTGCTGC	0.662																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3358-3360)Aaa>Gaa		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						15	21	19					3																	38620857		2113	4196	6309	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38620857T>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3358A>G	3.37:g.38620857T>C	ENSP00000328968:p.Lys1120Glu					SCN5A_uc021wvk.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvn.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvp.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvq.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvr.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvs.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvt.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.K986E|SCN5A_uc021wvw.1_Missense_Mutation_p.K730E	p.K1120E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	3410	-	Medulloblastoma(35;0.163)		1120					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3358A>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	1.266	-0.614364	0.03663	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.3	-4.54	0.03452	Sodium ion transport-associated (1);	1.910830	0.02501	N	0.090490	T	0.69333	0.3099	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.001;0.002	T	0.60791	-0.7193	10	0.02654	T	1	.	6.4646	0.21975	0.0:0.3092:0.4619:0.2289	.	1119;1120;1120;1120;1119;1120	E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	E	1120;1119;1120;1119;1120;1120;1119	ENSP00000398962:K1120E;ENSP00000398266:K1119E;ENSP00000410257:K1120E;ENSP00000397915:K1119E;ENSP00000416634:K1120E;ENSP00000328968:K1120E;ENSP00000399524:K1119E	ENSP00000328968:K1120E	K	-	1	0	SCN5A	38595861	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-1.120000	0.03273	-0.816000	0.04340	0.533000	0.62120	AAA		0.662	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		C	38620857	T	C	38620857	3	2	96	1	0	0	0	0	1	0	0	0	13922	1792	62	4	2736	4	SCN5A	3	38620857	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	35481177	38620857	159401573	34	6403											
TTC21A	199223	broad.mit.edu	37	chr3	39152446	39152446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctctggctcataggcCgccatgacaaggccaaagag	10	9	10	12	1	2	2	1	1	1	1	3	2	3	2	4	3	0	1	4	3	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:39152446C>T	ENST00000431162.2	+	4	507	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	TTC21A_ENST00000440121.1_Missense_Mutation_p.R125C|GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000301819.6_Missense_Mutation_p.R125C			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	125										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTCATAGGCCGCCATGACAA	0.502																																						uc003cjc.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(373-375)Cgc>Tgc		Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.							71	75	73					3																	39152446		1972	4162	6134	SO:0001583	missense	199223						binding	g.chr3:39152446C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.373C>T	3.37:g.39152446C>T	ENSP00000398211:p.Arg125Cys					TTC21A_uc003cja.3_Missense_Mutation_p.R125C|TTC21A_uc010hho.2_Missense_Mutation_p.R88C|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_Non-coding_Transcript	p.R125C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	3	550	+			125					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.373C>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828551	0.16749	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.65549	-0.16;-0.16;1.94	5.73	1.4	0.22301	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.229850	0.05643	N	0.583810	T	0.51363	0.1670	L	0.42744	1.35	0.09310	N	1	B;B;B;B;B	0.24483	0.104;0.017;0.002;0.001;0.017	B;B;B;B;B	0.21917	0.037;0.007;0.003;0.001;0.007	T	0.41875	-0.9484	10	0.49607	T	0.09	-0.3274	2.9604	0.05890	0.2169:0.5174:0.103:0.1628	.	125;125;125;125;125	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	C	125	ENSP00000301819:R125C;ENSP00000398211:R125C;ENSP00000410882:R125C	ENSP00000301819:R125C	R	+	1	0	TTC21A	39127450	0.002000	0.14202	0.009000	0.14445	0.143000	0.21401	0.264000	0.18497	0.341000	0.23771	-0.142000	0.14014	CGC		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		T	39152446	C	T	39152446	3	4	96	1	0	0	0	0	1	0	0	0	16684	652	23	2	387	2	TTC21A	3	39152446	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	531589	39152446	158869984	35	6404											
NBEAL2	23218	broad.mit.edu	37	chr3	47040042	47040042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttatcttggatgctctgCgcacccactacaggtgaggc	8	11	11	11	1	2	1	0	1	2	0	2	2	2	2	1	3	3	3	1	3	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:47040042C>T	ENST00000450053.3	+	22	3387	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1070C|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1070					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGATGCTCTGCGCACCCACTA	0.612											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3208-3210)Cgc>Tgc		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							42	45	44					3																	47040042		2050	4193	6243	SO:0001583	missense	23218						binding	g.chr3:47040042C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3208C>T	3.37:g.47040042C>T	ENSP00000415034:p.Arg1070Cys		OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_uc010hjm.2_Missense_Mutation_p.R631C	p.R1070C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	21	3387	+		Acute lymphoblastic leukemia(5;0.0534)	1070					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.3208C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078568	0.76528	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.37411	1.2;1.2	5.31	5.31	0.75309	Armadillo-like helical (1);	0.116377	0.64402	D	0.000013	T	0.59649	0.2209	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61476	-0.7055	10	0.87932	D	0	.	17.7178	0.88342	0.0:1.0:0.0:0.0	.	1070	Q6ZNJ1	NBEL2_HUMAN	C	1070	ENSP00000292309:R1070C;ENSP00000415034:R1070C	ENSP00000292309:R1070C	R	+	1	0	NBEAL2	47015046	1.000000	0.71417	0.998000	0.56505	0.418000	0.31294	2.345000	0.44018	2.768000	0.95171	0.561000	0.74099	CGC		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47040042	C	T	47040042	3	4	96	1	0	0	0	0	1	0	0	0	10189	768	27	1	3294	1	NBEAL2	3	47040042	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7887596	47040042	150982388	36	6405											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719898	48719898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcagcatccaagtggtgGtcactggttgatgaggtcat	9	10	14	8	0	2	2	2	2	0	0	3	2	3	2	1	4	2	4	1	4	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:48719898G>C	ENST00000294129.2	-	3	488	c.369C>G	c.(367-369)gaC>gaG	p.D123E	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D123E|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D123E	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	123					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGTGGTGGTCACTGGTTG	0.592																																						uc003cun.3																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(367-369)gaC>gaG		Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.							110	112	111					3																	48719898		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719898G>C	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.369C>G	3.37:g.48719898G>C	ENSP00000294129:p.Asp123Glu					NCKIPSD_uc003cum.3_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.2_Missense_Mutation_p.D123E	p.D123E	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	463	-			123					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.369C>G	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749211	0.30955	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.45668	0.89;1.56;1.56;1.48	4.71	2.89	0.33648	.	0.073208	0.53938	U	0.000054	T	0.23289	0.0563	L	0.33137	0.985	0.28857	N	0.895744	P;B;B	0.37015	0.578;0.227;0.336	B;B;B	0.35655	0.207;0.056;0.12	T	0.10800	-1.0614	10	0.08381	T	0.77	.	4.8419	0.13494	0.2994:0.1609:0.5397:0.0	.	123;123;123	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	E	123;123;123;123;45;7	ENSP00000342621:D123E;ENSP00000389059:D123E;ENSP00000294129:D123E;ENSP00000409675:D123E	ENSP00000294129:D123E	D	-	3	2	NCKIPSD	48694902	0.880000	0.30214	0.998000	0.56505	0.437000	0.31866	0.511000	0.22739	0.971000	0.38288	0.650000	0.86243	GAC		0.592	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		C	48719898	G	C	48719898	3	2	96	1	0	0	0	0	1	0	0	0	10225	1252	44	5	1843	5	NCKIPSD	3	48719898	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1679856	48719898	149302532	37	6406											
P4HTM	54681	broad.mit.edu	37	chr3	49043241	49043241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttttatttgaacaacGtcactggtgggggcgagact	8	13	13	7	2	1	2	1	1	0	1	1	3	1	2	0	3	3	2	0	3	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:49043241G>A	ENST00000383729.4	+	7	1476	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.V430I	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	369	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TTTGAACAACGTCACTGGTGG	0.542																																						uc003cvh.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1288-1290)Gtc>Atc		Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	Vitamin C(DB00126)						114	113	113					3																	49043241		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043241G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1105G>A	3.37:g.49043241G>A	ENSP00000373235:p.Val369Ile					P4HTM_uc003cvg.3_Missense_Mutation_p.V369I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.V430I	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN			6	1637	+			369			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1288G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455231	0.96223	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59364	0.27	5.72	5.72	0.89469	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.061588	0.64402	D	0.000004	T	0.78997	0.4372	M	0.85945	2.785	0.44685	D	0.997679	D;D	0.89917	0.964;1.0	P;D	0.65323	0.813;0.934	T	0.81289	-0.1000	10	0.66056	D	0.02	-32.1262	19.8731	0.96858	0.0:0.0:1.0:0.0	.	430;369	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	I	369;430	ENSP00000373235:V369I	ENSP00000341422:V430I	V	+	1	0	P4HTM	49018245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.452000	0.97615	2.699000	0.92147	0.563000	0.77884	GTC		0.542	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		A	49043241	G	A	49043241	3	1	96	1	0	0	0	0	1	0	0	0	11360	1145	40	1	1314	1	P4HTM	3	49043241	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	323343	49043241	148979189	38	6407											
TMF1	7110	broad.mit.edu	37	chr3	69097037	69097037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtctcttgtctcgagctCgctgagctctcacttattac	6	15	8	12	2	3	1	1	1	3	0	7	2	3	1	0	0	3	4	0	0	3	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:69097037C>T	ENST00000398559.2	-	2	1035	c.819G>A	c.(817-819)gcG>gcA	p.A273A	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000543976.1_Silent_p.A273A|CTD-2013N24.2_ENST00000482368.2_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	273					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGAGCTCGCTGAGCTCT	0.398																																						uc011bfx.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(817-819)gcG>gcA		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							50	48	48					3																	69097037		1873	4109	5982	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097037C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.819G>A	3.37:g.69097037C>T						TMF1_uc003dnn.3_Silent_p.A273A	p.A273A	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	1	1066	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	273					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.819G>A	CCDS43105.1																																																																																				0.398	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		T	69097037	C	T	69097037	2	4	96	1	0	0	0	0	0	0	0	1	16225	871	31	2		2	TMF1	3	69097037	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	20053796	69097037	128925393	39	6408											
FILIP1L	11259	broad.mit.edu	37	chr3	99568062	99568062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccattgatgactgcacGttccagaggaatgaggctct	10	10	11	10	1	1	5	0	4	1	1	2	6	2	6	2	2	1	3	2	2	1	2	rs374898848		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:99568062G>A	ENST00000354552.3	-	5	2928	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	FILIP1L_ENST00000331335.5_Missense_Mutation_p.R820C|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R580C|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R580C|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R396C	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	820						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGACTGCACGTTCCAGAGGA	0.438																																						uc003dtm.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2458-2460)Cgt>Tgt		Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG,	1,3923		0,1,1961	216	199	204		2458,1738,2458,	3	1	3		204	0,8304		0,0,4152	no	missense,missense,missense,intron	FILIP1L,C3orf26	NM_001042459.1,NM_014890.2,NM_182909.2,NM_032359.3	180,180,180,	0,1,6113	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging,probably-damaging,probably-damaging,	820/1134,580/894,820/1136,	99568062	1,12227	1962	4152	6114	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568062G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2458C>T	3.37:g.99568062G>A	ENSP00000346560:p.Arg820Cys					MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.3_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.3_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.3_Missense_Mutation_p.R580C|FILIP1L_uc021xbr.1_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	p.R820C	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			4	2921	-			820					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2458C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688374	0.48097	2.55E-4	0.0	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.30182	1.86;1.54;1.55;1.86;1.54;1.57	5.87	2.96	0.34315	.	0.159821	0.29508	N	0.011943	T	0.32526	0.0832	N	0.08118	0	0.47407	D	0.999419	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.828	T	0.29305	-1.0016	10	0.62326	D	0.03	-5.7434	14.8611	0.70382	0.0:0.0:0.6192:0.3808	.	820;820	Q4L180-2;Q4L180	.;FIL1L_HUMAN	C	820;396;580;820;580;566;580	ENSP00000346560:R820C;ENSP00000417774:R396C;ENSP00000419642:R580C;ENSP00000327880:R820C;ENSP00000373192:R580C;ENSP00000419874:R580C	ENSP00000327880:R820C	R	-	1	0	FILIP1L	101050752	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.743000	0.38258	0.309000	0.22966	0.655000	0.94253	CGT		0.438	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		A	99568062	G	A	99568062	3	1	96	1	0	0	0	0	1	0	0	0	5895	1145	40	1	978	1	FILIP1L	3	99568062	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	30471025	99568062	98454368	40	6409											
KALRN	8997	broad.mit.edu	37	chr3	124017688	124017688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattcctccagagccacacGgagatcggagtcagctacca	11	8	9	13	2	1	2	1	0	0	2	4	4	3	3	4	2	3	1	4	2	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124017688G>A	ENST00000240874.3	+	6	1171	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	KALRN_ENST00000460856.1_Silent_p.T338T|KALRN_ENST00000360013.3_Silent_p.T338T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	338					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGCCACACGGAGATCGGAG	0.512																																						uc003ehg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1012-1014)acG>acA		Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.							218	198	205					3																	124017688		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124017688G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1014G>A	3.37:g.124017688G>A						KALRN_uc010hrv.1_Silent_p.T338T|KALRN_uc003ehf.1_Silent_p.T338T|KALRN_uc011bjy.1_Silent_p.T338T	p.T338T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	1141	+			338					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1014G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	9.038	0.989051	0.18966	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.55	-4.39	0.03611	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51180	-0.8738	4	.	.	.	.	9.5195	0.39126	0.6065:0.0:0.2361:0.1574	.	.	.	.	Q	316	.	.	R	+	2	0	KALRN	125500378	0.000000	0.05858	0.926000	0.36857	0.993000	0.82548	-4.679000	0.00199	-0.839000	0.04212	-0.136000	0.14681	CGG		0.512	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		A	124017688	G	A	124017688	2	1	96	1	0	0	0	0	0	0	0	1	7975	1103	39	2		2	KALRN	3	124017688	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	24449626	124017688	74004742	41	6410											
ZNF148	7707	broad.mit.edu	37	chr3	124951615	124951615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctattgatgggcatggtgGcatagacctgcttgtctatg	8	13	13	7	0	1	2	0	1	1	1	1	2	1	2	1	3	2	4	1	3	3	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124951615G>A	ENST00000360647.4	-	9	2440	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.A652V|ZNF148_ENST00000484491.1_Missense_Mutation_p.A652V|ZNF148_ENST00000492394.1_Missense_Mutation_p.A652V|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	652					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGGCATGGTGGCATAGACCTG	0.443																																						uc003ehx.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1954-1956)gCc>gTc		Homo sapiens zinc finger protein 148 (ZNF148), mRNA.							179	180	180					3																	124951615		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951615G>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1955C>T	3.37:g.124951615G>A	ENSP00000353863:p.Ala652Val					SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.A652V|ZNF148_uc010hsa.3_Missense_Mutation_p.A652V|ZNF148_uc003eia.4_Missense_Mutation_p.A652V|ZNF148_uc003ehy.3_Intron	p.A652V	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			8	2441	-			652					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1955C>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282394	0.40394	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.26	5.26	0.73747	.	0.269094	0.36134	N	0.002764	T	0.36608	0.0973	L	0.29908	0.895	0.80722	D	1	B	0.23377	0.084	B	0.20184	0.028	T	0.20505	-1.0273	10	0.87932	D	0	-11.6573	19.0462	0.93020	0.0:0.0:1.0:0.0	.	652	Q9UQR1	ZN148_HUMAN	V	652	ENSP00000353863:A652V;ENSP00000420335:A652V;ENSP00000419322:A652V;ENSP00000420448:A652V	ENSP00000353863:A652V	A	-	2	0	ZNF148	126434305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.564000	0.73969	2.732000	0.93576	0.591000	0.81541	GCC		0.443	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		A	124951615	G	A	124951615	3	1	96	1	0	0	0	0	1	0	0	0	17731	1203	42	3	433	3	ZNF148	3	124951615	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	933927	124951615	73070815	42	6411											
CCDC37	348807	broad.mit.edu	37	chr3	126153184	126153184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgccccaggtcaagatcGagcaggccgagagggcaaag	12	3	15	11	3	1	2	1	0	0	2	2	4	1	2	3	3	2	2	3	3	2	0	rs141942694		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:126153184G>A	ENST00000352312.1	+	15	1687	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.E531K|CCDC37_ENST00000393425.1_Missense_Mutation_p.E531K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637																																						uc010hsg.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(1591-1593)Gag>Aag		Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.							56	57	57					3																	126153184		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126153184G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1588G>A	3.37:g.126153184G>A	ENSP00000344749:p.Glu530Lys					CCDC37_uc003eiu.1_Missense_Mutation_p.E530K	p.E531K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	13	1650	+			530					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.1591G>A	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534240	0.64972	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.34667	1.35;1.35;1.35	4.92	4.03	0.46877	.	0.314966	0.36200	N	0.002734	T	0.52933	0.1765	L	0.58354	1.805	0.38571	D	0.949944	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.52366	-0.8585	10	0.27082	T	0.32	-26.2176	12.8956	0.58098	0.0:0.1652:0.8348:0.0	.	531;530	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	530;531;531	ENSP00000344749:E530K;ENSP00000377076:E531K;ENSP00000423046:E531K	ENSP00000344749:E530K	E	+	1	0	CCDC37	127635874	0.999000	0.42202	0.784000	0.31847	0.551000	0.35334	3.675000	0.54605	1.031000	0.39867	0.467000	0.42956	GAG		0.637	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126153184	G	A	126153184	3	1	96	1	0	0	0	0	1	0	0	0	2809	1059	37	2	1642	2	CCDC37	3	126153184	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1201569	126153184	71869246	43	6412											
IFT122	55764	broad.mit.edu	37	chr3	129195512	129195512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccccgcaggtggtcGgctgccaggacggcaccatt	6	7	12	16	3	1	0	1	0	1	0	3	1	1	1	4	5	1	3	4	5	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129195512G>A	ENST00000348417.2	+	11	1092	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	IFT122_ENST00000507564.1_Missense_Mutation_p.G331S|IFT122_ENST00000349441.2_Missense_Mutation_p.G228S|IFT122_ENST00000296266.3_Missense_Mutation_p.G390S|IFT122_ENST00000431818.2_Missense_Mutation_p.G189S|IFT122_ENST00000440957.2_Missense_Mutation_p.G130S|IFT122_ENST00000347300.2_Missense_Mutation_p.G280S|IFT122_ENST00000504021.1_Missense_Mutation_p.G233S	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	339					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCAGGTGGTCGGCTGCCAGGA	0.527																																						uc003eml.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1168-1170)Ggc>Agc		Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.							88	93	91					3																	129195512		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129195512G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1015G>A	3.37:g.129195512G>A	ENSP00000324005:p.Gly339Ser					IFT122_uc003emm.3_Missense_Mutation_p.G339S|IFT122_uc003emn.3_Missense_Mutation_p.G280S|IFT122_uc003emo.3_Missense_Mutation_p.G228S|IFT122_uc003emp.3_Missense_Mutation_p.G189S|IFT122_uc010htc.3_Missense_Mutation_p.G331S|IFT122_uc011bky.2_Missense_Mutation_p.G130S|IFT122_uc011bla.2_Missense_Mutation_p.G130S|IFT122_uc003emr.3_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_Non-coding_Transcript	p.G390S	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN			11	1374	+			339					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.1168G>A	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.757778|4.757778	0.89843|0.89843	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957|ENST00000512157;ENST00000515783	T;T;T;T;T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43|.	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85097|0.85097	0.5619|0.5619	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.991;0.987;0.987;0.99;1.0;0.999|.	D|D	0.86740|0.86740	0.1954|0.1954	10|5	0.72032|.	D|.	0.01|.	-28.714|-28.714	19.7278|19.7278	0.96172|0.96172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;331;233;179;228;280;339;390|.	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;IF122_HUMAN;.|.	S|Q	280;390;331;280;189;233;228;339;179;130|217;165	ENSP00000323973:G280S;ENSP00000296266:G390S;ENSP00000425536:G331S;ENSP00000410946:G189S;ENSP00000422179:G233S;ENSP00000324165:G228S;ENSP00000324005:G339S;ENSP00000401569:G130S|.	ENSP00000296266:G390S|.	G|R	+|+	1|2	0|0	IFT122|IFT122	130678202|130678202	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.485000|0.485000	0.33311|0.33311	9.369000|9.369000	0.97156|0.97156	2.656000|2.656000	0.90262|0.90262	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		A	129195512	G	A	129195512	3	1	96	1	0	0	0	0	1	0	0	0	7555	1116	39	2	1214	2	IFT122	3	129195512	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3042328	129195512	68826918	44	6413											
CEP63	80254	broad.mit.edu	37	chr3	134226076	134226076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttgcttgaaaatccGtgaacaggaacttaagagtc	16	9	9	7	1	0	4	0	2	0	2	2	5	1	5	1	1	4	1	1	1	6	3	rs370940310		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:134226076G>A	ENST00000337090.3	+	3	343	c.170G>A	c.(169-171)cGt>cAt	p.R57H	CEP63_ENST00000354446.3_Missense_Mutation_p.R57H|CEP63_ENST00000513612.2_Missense_Mutation_p.R57H|CEP63_ENST00000606977.1_Missense_Mutation_p.R57H|CEP63_ENST00000383229.3_Missense_Mutation_p.R57H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000332047.5_Missense_Mutation_p.R57H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	57					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		15608	0		0	False		,,,				2504	0					uc003eqo.1																			0		p.R57C(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(169-171)cGt>cAt		Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114	111	112		170,170,170,170	5.2	1	3		112	0,8600		0,0,4300	no	missense,missense,missense,missense	CEP63	NM_001042383.1,NM_001042384.1,NM_001042400.1,NM_025180.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/496,57/476,57/542,57/704	134226076	1,13005	2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134226076G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.170G>A	3.37:g.134226076G>A	ENSP00000336524:p.Arg57His					CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.3_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	p.R57H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			3	619	+			57					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.170G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614129	0.66672	2.27E-4	0.0	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.25085	1.97;1.97;1.97;1.97;1.97;1.82;1.97	5.25	5.25	0.73442	.	0.196730	0.41823	D	0.000809	T	0.47746	0.1462	M	0.71581	2.175	0.38922	D	0.957753	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.978;0.987;0.982	T	0.46119	-0.9214	10	0.44086	T	0.13	-8.1035	11.4956	0.50406	0.0839:0.0:0.9161:0.0	.	57;57;57;57	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	57	ENSP00000328382:R57H;ENSP00000346432:R57H;ENSP00000424626:R57H;ENSP00000336524:R57H;ENSP00000372716:R57H;ENSP00000423225:R57H;ENSP00000426129:R57H	ENSP00000328382:R57H	R	+	2	0	CEP63	135708766	1.000000	0.71417	0.997000	0.53966	0.426000	0.31534	4.202000	0.58446	2.611000	0.88343	0.655000	0.94253	CGT		0.368	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		A	134226076	G	A	134226076	3	1	96	1	0	0	0	0	1	0	0	0	3257	1145	40	1	176	1	CEP63	3	134226076	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5030564	134226076	63796354	45	6414											
CPB1	1360	broad.mit.edu	37	chr3	148545842	148545842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacattaacataatccGcgagttggccagcacgaccc	14	7	7	13	3	1	0	1	0	0	0	2	2	2	0	3	1	2	2	3	1	3	3	rs193238667	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:148545842G>A	ENST00000491148.1	+	3	459	c.125G>A	c.(124-126)cGc>cAc	p.R42H	CPB1_ENST00000282957.4_Missense_Mutation_p.R42H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	42						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R42H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACATAATCCGCGAGTTGGCC	0.363													G|||	6	0.00119808	0	0.0014	5008	,	,		21142	0.005		0	False		,,,				2504	0					uc003ewl.3																			1	Substitution - Missense(1)	p.R42H(2)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(124-126)cGc>cAc		Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	102	102		125	1.1	0	3		102	0,8600		0,0,4300	yes	missense	CPB1	NM_001871.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	42/418	148545842	1,13005	2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148545842G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.125G>A	3.37:g.148545842G>A	ENSP00000417222:p.Arg42His						p.R42H	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		1	148	+			42					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.125G>A	CCDS33874.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	0.260	-1.000162	0.02128	2.27E-4	0.0	ENSG00000153002	ENST00000491148;ENST00000494888;ENST00000462345;ENST00000282957;ENST00000468341	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.78	1.06	0.20224	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.775200	0.12981	N	0.423269	T	0.04272	0.0118	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.35871	-0.9771	10	0.42905	T	0.14	.	8.128	0.31010	0.6497:0.0:0.3503:0.0	.	42	P15086	CBPB1_HUMAN	H	42	ENSP00000417222:R42H;ENSP00000419114:R42H;ENSP00000417117:R42H;ENSP00000282957:R42H;ENSP00000419427:R42H	ENSP00000282957:R42H	R	+	2	0	CPB1	150028532	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.703000	0.25646	0.094000	0.17404	-0.302000	0.09304	CGC		0.363	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		A	148545842	G	A	148545842	3	1	96	1	0	0	0	0	1	0	0	0	3796	1087	38	1	131	1	CPB1	3	148545842	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	14319766	148545842	49476588	46	6415											
EPHB3	2049	broad.mit.edu	37	chr3	184298249	184298249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcggggcattgctgcCggcatgaagtacctgtccga	7	10	14	10	3	0	1	0	1	0	0	1	2	1	1	3	3	4	5	3	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:184298249C>T	ENST00000330394.2	+	12	2684	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	744	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCATTGCTGCCGGCATGAAGT	0.572																																						uc003foz.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2230-2232)gcC>gcT		Homo sapiens EPH receptor B3 (EPHB3), mRNA.							157	143	147					3																	184298249		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298249C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2232C>T	3.37:g.184298249C>T							p.A744A	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2669	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		744			Protein kinase.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2232C>T	CCDS3268.1																																																																																				0.572	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		T	184298249	C	T	184298249	2	4	96	1	0	0	0	0	0	0	0	1	5176	639	23	2		2	EPHB3	3	184298249	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	35752407	184298249	13724181	47	6416											
LIPH	200879	broad.mit.edu	37	chr3	185245282	185245282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgttaccatcagtgtcGgaatggatgacatcaacaaa	14	8	11	8	2	2	1	2	1	0	0	3	4	2	4	1	3	3	1	1	3	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:185245282G>A	ENST00000296252.4	-	4	759	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	206					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527																																						uc003fpm.3																			0		p.H205N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(616-618)tcC>tcT		Homo sapiens lipase, member H (LIPH), mRNA.							285	237	253					3																	185245282		2203	4300	6503	SO:0001819	synonymous_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185245282G>A	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.618C>T	3.37:g.185245282G>A						LIPH_uc010hyh.3_Intron	p.S206S	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		3	728	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		206					A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	c.618C>T	CCDS3272.1																																																																																				0.527	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			A	185245282	G	A	185245282	2	1	96	1	0	0	0	0	0	0	0	1	8824	1103	39	2		2	LIPH	3	185245282	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	947033	185245282	12777148	48	6417											
BCL6	604	broad.mit.edu	37	chr3	187442788	187442788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagagtctgaaggtgccGgaaacgggtgccacagattt	10	9	13	9	2	2	3	1	1	1	2	2	4	2	4	2	3	3	0	2	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:187442788G>A	ENST00000406870.2	-	9	2284	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R640W|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R584W	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	640					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAAGGTGCCGGAAACGGGTG	0.557			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	uc003frp.3				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1918-1920)Cgg>Tgg		Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.							111	109	110					3																	187442788		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187442788G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1918C>T	3.37:g.187442788G>A	ENSP00000384371:p.Arg640Trp					LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.2_Missense_Mutation_p.R640W	p.R640W	NM_001130845	NP_001697	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	8	2375	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		640					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1918C>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446787	0.84101	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.18	5.78	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.51914	1.62	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.87578	0.928;0.998	T	0.00768	-1.1574	10	0.87932	D	0	.	15.4974	0.75666	0.0:0.0:0.861:0.139	.	584;640	B8PSA7;P41182	.;BCL6_HUMAN	W	640;640;584	ENSP00000384371:R640W;ENSP00000232014:R640W;ENSP00000413122:R584W	ENSP00000232014:R640W	R	-	1	2	BCL6	188925482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.146000	0.50631	1.415000	0.47037	0.655000	0.94253	CGG		0.557	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		A	187442788	G	A	187442788	3	1	96	1	0	0	0	0	1	0	0	0	1376	1115	39	2	210	2	BCL6	3	187442788	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2197506	187442788	10579642	49	6418											
TP63	8626	broad.mit.edu	37	chr3	189582118	189582118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagggagctgttatccGcgccatgcctgtctacaaaa	9	10	9	13	2	2	0	1	0	1	0	4	1	4	1	4	1	3	2	4	1	4	2	rs193921145		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:189582118G>A	ENST00000264731.3	+	5	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H	TP63_ENST00000449992.1_Missense_Mutation_p.R47H|TP63_ENST00000440651.2_Missense_Mutation_p.R226H|TP63_ENST00000320472.5_Missense_Mutation_p.R226H|TP63_ENST00000392461.3_Missense_Mutation_p.R132H|TP63_ENST00000354600.5_Missense_Mutation_p.R132H|TP63_ENST00000392460.3_Missense_Mutation_p.R226H|TP63_ENST00000456148.1_Missense_Mutation_p.R132H|TP63_ENST00000382063.4_Missense_Mutation_p.R141H|TP63_ENST00000437221.1_Missense_Mutation_p.R132H|TP63_ENST00000392463.2_Missense_Mutation_p.R132H|TP63_ENST00000418709.2_Missense_Mutation_p.R226H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	226					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTGTTATCCGCGCCATGCCT	0.522										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(676-678)cGc>cAc		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							125	123	123					3																	189582118		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582118G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.677G>A	3.37:g.189582118G>A	ENSP00000264731:p.Arg226His	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.R226H|TP63_uc003frz.2_Missense_Mutation_p.R226H|TP63_uc010hzc.1_Missense_Mutation_p.R226H|TP63_uc003fsa.2_Missense_Mutation_p.R132H|TP63_uc003fsb.2_Missense_Mutation_p.R132H|TP63_uc003fsc.2_Missense_Mutation_p.R132H|TP63_uc003fsd.2_Missense_Mutation_p.R132H|TP63_uc021xir.1_Missense_Mutation_p.R132H|TP63_uc010hzd.1_Missense_Mutation_p.R47H|TP63_uc003fse.1_Missense_Mutation_p.R107H	p.R226H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	766	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		226					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.677G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494914	0.96339	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.85	5.85	0.93711	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.81914	0.992;0.992;0.992;0.992;0.992;0.988;0.993;0.992;0.995;0.992	D	0.97225	0.9880	9	.	.	.	-5.3324	19.1612	0.93533	0.0:0.0:1.0:0.0	.	47;226;226;132;132;132;132;226;226;226	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	H	226;226;226;226;226;141;132;132;132;132;47;132	ENSP00000264731:R226H;ENSP00000407144:R226H;ENSP00000317510:R226H;ENSP00000376253:R226H;ENSP00000394337:R226H;ENSP00000371495:R141H;ENSP00000346614:R132H;ENSP00000392488:R132H;ENSP00000376256:R132H;ENSP00000376254:R132H;ENSP00000387839:R47H;ENSP00000389485:R132H	.	R	+	2	0	TP63	191064812	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	CGC		0.522	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189582118	G	A	189582118	3	1	96	1	0	0	0	0	1	0	0	0	16389	1087	38	1	741	1	TP63	3	189582118	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2139330	189582118	8440312	50	6419											
ADD1	118	broad.mit.edu	37	chr4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatggcaccagaccttcGccaggacttcaacatgatgg	12	7	10	12	1	1	2	1	1	0	1	2	4	1	3	3	3	2	1	3	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:2877779G>A	ENST00000398129.1	+	1	157	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000355842.3_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfq.3																			0		p.R46C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(136-138)cGc>cAc		Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.							118	114	115					4																	2877779		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877779G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.137G>A	4.37:g.2877779G>A	ENSP00000381197:p.Arg46His					ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.3_Missense_Mutation_p.R46H|ADD1_uc003gfp.3_Missense_Mutation_p.R46H|ADD1_uc003gfr.3_Missense_Mutation_p.R46H|ADD1_uc003gfs.3_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	p.R46H	NM_014189	NP_054908	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	325	+			46					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.137G>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321310	0.95682	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.996;0.999;0.975;0.996;0.943	T	0.65492	-0.6155	10	0.87932	D	0	-17.3626	18.4459	0.90683	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46;46	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	46	ENSP00000264758:R46H;ENSP00000399828:R46H;ENSP00000381193:R46H;ENSP00000421918:R46H;ENSP00000421907:R46H;ENSP00000426700:R46H;ENSP00000423024:R46H;ENSP00000348100:R46H;ENSP00000381191:R46H;ENSP00000381197:R46H	ENSP00000264758:R46H	R	+	2	0	ADD1	2847577	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.356000	0.97091	2.597000	0.87782	0.591000	0.81541	CGC		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		A	2877779	G	A	2877779	3	1	96	1	0	0	0	0	1	0	0	0	304	1087	38	1	139	1	ADD1	4	2877779	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		2877779	188276497	51	6420											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68964683	68964683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtgaaaagagctagccGtactgagtcccaaaattgct	14	10	9	8	1	0	3	0	2	0	1	1	3	1	3	2	0	4	3	2	0	7	4	rs140054355	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:68964683G>A	ENST00000356291.2	-	2	144	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	29						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGAGCTAGCCGTACTGAGTCC	0.378													G|||	5	0.000998403	8e-04	0.0029	5008	,	,		18800	0		0.002	False		,,,				2504	0					uc003hdt.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(85-87)Cgg>Tgg		Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	118	108	112		85	-3.2	0	4	dbSNP_134	112	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TMPRSS11F	NM_207407.2	101	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	29/439	68964683	9,12997	2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68964683G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.85C>T	4.37:g.68964683G>A	ENSP00000348639:p.Arg29Trp						p.R29W	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			1	134	-			29					A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.85C>T	CCDS3520.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	11.74	1.728130	0.30593	2.27E-4	9.3E-4	ENSG00000198092	ENST00000356291	D	0.88741	-2.42	5.12	-3.19	0.05171	.	0.147897	0.30320	N	0.009883	T	0.82051	0.4953	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.53062	0.717	T	0.79305	-0.1858	10	0.48119	T	0.1	.	15.9007	0.79373	0.0:0.0:0.1762:0.8238	.	29	Q6ZWK6	TM11F_HUMAN	W	29	ENSP00000348639:R29W	ENSP00000348639:R29W	R	-	1	2	TMPRSS11F	68647278	0.004000	0.15560	0.002000	0.10522	0.033000	0.12548	-0.121000	0.10643	-0.434000	0.07275	0.585000	0.79938	CGG		0.378	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		A	68964683	G	A	68964683	3	1	96	1	0	0	0	0	1	0	0	0	16240	1144	40	1	1267	1	TMPRSS11F	4	68964683	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	66086904	68964683	122189593	52	6421											
RXFP1	59350	broad.mit.edu	37	chr4	159567947	159567947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgactcctctaggtgcCgactgcttaatgggaatata	11	12	9	9	1	1	1	0	1	1	0	2	3	2	2	2	2	2	1	2	2	6	5	rs373779528		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:159567947C>T	ENST00000307765.5	+	16	1601	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RXFP1_ENST00000470033.1_Silent_p.A417A|RXFP1_ENST00000343542.5_Silent_p.A402A|RXFP1_ENST00000448688.2_Silent_p.A345A|RXFP1_ENST00000460056.2_Silent_p.A369A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	450					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCTAGGTGCCGACTGCTTAA	0.348																																						uc003ipz.3																			0		p.A450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1348-1350)gcC>gcT		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.		T		0,3662		0,0,1831	118	106	110		1350	-11.3	0.7	4		110	1,8165		0,1,4082	no	coding-synonymous	RXFP1	NM_021634.2		0,1,5913	TT,TC,CC		0.0122,0.0,0.0085		450/758	159567947	1,11827	1831	4083	5914	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159567947C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1350C>T	4.37:g.159567947C>T						RXFP1_uc010iqk.3_Silent_p.A318A|RXFP1_uc011cja.2_Silent_p.A345A|RXFP1_uc010iqo.3_Silent_p.A402A|RXFP1_uc011cjb.2_Silent_p.A348A|RXFP1_uc011cjc.2_Silent_p.A369A|RXFP1_uc011cjd.2_Silent_p.A369A|RXFP1_uc010iql.3_Silent_p.A294A|RXFP1_uc011cje.2_Silent_p.A477A|RXFP1_uc010iqm.3_Silent_p.A417A|RXFP1_uc011cjf.2_Silent_p.A319A|RXFP1_uc010iqn.3_Silent_p.A395A	p.A450A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	15	1613	+	all_hematologic(180;0.24)	Renal(120;0.0854)	450					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.1350C>T	CCDS43276.1																																																																																				0.348	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		T	159567947	C	T	159567947	2	4	96	1	0	0	0	0	0	0	0	1	13759	639	23	2		2	RXFP1	4	159567947	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	90603264	159567947	31586329	53	6422											
ASB5	140458	broad.mit.edu	37	chr4	177143569	177143569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttactgcatttacattataAccctaaatgtggcataattt	13	16	5	7	0	0	0	0	0	0	0	0	0	0	0	1	1	4	3	1	1	7	8			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:177143569A>G	ENST00000296525.3	-	3	392	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.G40G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	93					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTACATTATAACCCTAAATGT	0.398																																						uc003iuq.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(277-279)ggT>ggC		Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.							96	96	96					4																	177143569		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177143569A>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.279T>C	4.37:g.177143569A>G						ASB5_uc003iup.2_Silent_p.G40G	p.G93G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	2	393	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	93					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.279T>C	CCDS3827.1																																																																																				0.398	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			G	177143569	A	G	177143569	2	3	96	1	0	0	0	0	0	0	0	1	1026	30	2	4		4	ASB5	4	177143569	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	17575622	177143569	14010707	54	6423											
ZFP42	132625	broad.mit.edu	37	chr4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactttaatttgcgtaCgcacgtgcgcatccacacgg	8	11	10	12	5	1	0	0	0	1	0	2	1	2	1	1	2	3	3	1	2	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:188924752C>T	ENST00000326866.4	+	4	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_ENST00000509524.1_Missense_Mutation_p.T264M	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	264					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483																																						uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(790-792)aCg>aTg		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							78	77	77					4																	188924752		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924752C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.791C>T	4.37:g.188924752C>T	ENSP00000317686:p.Thr264Met					ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1199	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	264					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.791C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507615	0.44558	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.50813	0.73;0.73	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.38531	1.155	0.35697	D	0.815328	D	0.89917	1.0	D	0.81914	0.995	T	0.64989	-0.6277	10	0.59425	D	0.04	.	10.5007	0.44804	0.0:0.9042:0.0:0.0958	.	264	Q96MM3	ZFP42_HUMAN	M	264	ENSP00000317686:T264M;ENSP00000424662:T264M	ENSP00000317686:T264M	T	+	2	0	ZFP42	189161746	1.000000	0.71417	0.023000	0.16930	0.009000	0.06853	7.447000	0.80620	1.445000	0.47624	0.655000	0.94253	ACG		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		T	188924752	C	T	188924752	3	4	96	1	0	0	0	0	1	0	0	0	17647	536	19	1	793	1	ZFP42	4	188924752	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	11781183	188924752	2229524	55	6424											
NIPBL	25836	broad.mit.edu	37	chr5	36984865	36984865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaccagcttctcaggagaCgggttctacgggaaatgggt	10	9	14	8	2	2	2	1	0	2	2	3	4	2	3	1	4	2	2	1	4	3	4	rs574981584		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:36984865C>T	ENST00000282516.8	+	10	2082	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	NIPBL_ENST00000448238.2_Missense_Mutation_p.T528M|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	528					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTCAGGAGACGGGTTCTACG	0.448													C|||	1	0.000199681	0	0	5008	,	,		16163	0.001		0	False		,,,				2504	0					uc003jkl.4																			0		p.T528T(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1582-1584)aCg>aTg		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							172	180	177					5																	36984865		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36984865C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1583C>T	5.37:g.36984865C>T	ENSP00000282516:p.Thr528Met					NIPBL_uc003jkk.4_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	p.T528M	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	2082	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		528					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1583C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168083	0.57476	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94092	-3.35;-3.35	5.88	5.88	0.94601	.	0.108195	0.64402	D	0.000005	D	0.89829	0.6828	N	0.19112	0.55	0.43467	D	0.99567	P;P	0.46020	0.796;0.871	B;B	0.42361	0.215;0.385	D	0.90330	0.4351	10	0.52906	T	0.07	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	528;528	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	M	528	ENSP00000282516:T528M;ENSP00000406266:T528M	ENSP00000282516:T528M	T	+	2	0	NIPBL	37020622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.290000	0.59019	2.788000	0.95919	0.650000	0.86243	ACG		0.448	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	36984865	C	T	36984865	3	4	96	1	0	0	0	0	1	0	0	0	10428	536	19	1	1617	1	NIPBL	5	36984865	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		36984865	143930395	56	6425											
MAST4	375449	broad.mit.edu	37	chr5	66416869	66416869	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaatgcctccctgaaacttCgaaggaaacctcgggaaagt	13	8	9	11	2	0	1	0	1	0	0	3	4	1	3	3	2	3	0	3	2	5	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:66416869C>T	ENST00000403625.2	+	14	1979	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.R373*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R565*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R383*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R368*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	565						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGAAACTTCGAAGGAAACC	0.313																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(1684-1686)Cga>Tga		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							57	52	53					5																	66416869		1801	4069	5870	SO:0001587	stop_gained	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66416869C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1684C>T	5.37:g.66416869C>T	ENSP00000385727:p.Arg562*					MAST4_uc003jut.2_Nonsense_Mutation_p.R373*|MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.3_Nonsense_Mutation_p.R368*	p.R562*	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	13	1992	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	565					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	ENST00000403625.2	37	c.1684C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	37	6.556397	0.97663	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.	.	.	5.93	4.98	0.66077	.	0.130773	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8082	15.9107	0.79470	0.2219:0.7781:0.0:0.0	.	.	.	.	X	565;562;373;383;383;368;368	.	ENSP00000261569:R368X	R	+	1	2	MAST4	66452625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.762000	0.47597	2.803000	0.96430	0.650000	0.86243	CGA		0.313	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66416869	C	T	66416869	4	4	96	1	0	0	0	0	0	1	0	0	9327	876	31	2	1868	2	MAST4	5	66416869	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	29432004	66416869	114498391	57	6426											
PDE8B	8622	broad.mit.edu	37	chr5	76709099	76709099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgccgacgtcctgcacGccaccgctttctttcttgga	5	12	9	15	4	2	0	0	0	2	0	3	2	3	1	4	1	3	3	4	1	0	3	rs376573598		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:76709099G>A	ENST00000264917.5	+	17	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	PDE8B_ENST00000333194.4_Missense_Mutation_p.A571T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A91T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A529T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A579T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A606T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	626	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CGTCCTGCACGCCACCGCTTT	0.478																																						uc003kfa.3																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1876-1878)Gcc>Acc		Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	142	127	132		1585,1711,1816,1735,1876	5.6	1	5		132	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDE8B	NM_001029851.2,NM_001029852.2,NM_001029853.2,NM_001029854.2,NM_003719.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	529/789,571/831,606/866,579/839,626/886	76709099	1,13005	2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76709099G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1876G>A	5.37:g.76709099G>A	ENSP00000264917:p.Ala626Thr					PDE8B_uc003kfd.3_Missense_Mutation_p.A579T|PDE8B_uc003kfe.3_Missense_Mutation_p.A529T|PDE8B_uc003kfb.3_Missense_Mutation_p.A606T|PDE8B_uc003kfc.3_Missense_Mutation_p.A571T	p.A626T	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	16	1921	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	626			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1876G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150662	0.94645	2.27E-4	0.0	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.59	5.59	0.84812	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.86867	0.2033	10	0.87932	D	0	.	19.5754	0.95441	0.0:0.0:1.0:0.0	.	529;579;571;606;626	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	579;529;626;606;571;91	ENSP00000345446:A579T;ENSP00000330428:A529T;ENSP00000264917:A626T;ENSP00000345646:A606T;ENSP00000331336:A571T;ENSP00000423461:A91T	ENSP00000264917:A626T	A	+	1	0	PDE8B	76744855	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	9.804000	0.99143	2.620000	0.88729	0.561000	0.74099	GCC		0.478	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		A	76709099	G	A	76709099	3	1	96	1	0	0	0	0	1	0	0	0	11654	1087	38	1	1942	1	PDE8B	5	76709099	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10292230	76709099	104206161	58	6427											
FBXL17	64839	broad.mit.edu	37	chr5	107684192	107684192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatcttgtaacactggcCgaaatgaatatctttgagtt	12	14	9	6	1	2	3	0	3	2	1	2	5	2	3	1	1	1	2	1	1	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:107684192C>T	ENST00000542267.1	-	4	1820	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	FBXL17_ENST00000496714.1_Missense_Mutation_p.G74S|FBXL17_ENST00000359660.5_Missense_Mutation_p.G74S	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	472										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TAACACTGGCCGAAATGAATA	0.368																																						uc011cvc.2																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1414-1416)Ggc>Agc		Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.							140	131	134					5																	107684192		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107684192C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1414G>A	5.37:g.107684192C>T	ENSP00000437464:p.Gly472Ser					FBXL17_uc003kon.4_Missense_Mutation_p.G74S	p.G472S	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	3	1821	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	472					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1414G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596542	0.66332	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.22743	1.94;1.94;1.94	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	N	0.11106	0.095	0.80722	D	1	P;D	0.76494	0.954;0.999	B;P	0.58454	0.429;0.839	T	0.01771	-1.1277	10	0.02654	T	1	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	472;74	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	S	74;472;74	ENSP00000352683:G74S;ENSP00000437464:G472S;ENSP00000418111:G74S	ENSP00000352683:G74S	G	-	1	0	FBXL17	107712091	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.463000	0.80869	2.716000	0.92895	0.655000	0.94253	GGC		0.368	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	107684192	C	T	107684192	3	4	96	1	0	0	0	0	1	0	0	0	5713	652	23	2	715	2	FBXL17	5	107684192	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	30975093	107684192	73231068	59	6428											
KCNN2	3781	broad.mit.edu	37	chr5	113740527	113740527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcattatggataattgcCgcatggactgtccgagcttg	9	13	10	9	2	1	0	1	0	1	0	3	3	2	2	2	2	2	2	2	2	2	4	rs147034356		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:113740527C>T	ENST00000512097.3	+	4	1993	c.975C>T	c.(973-975)gcC>gcT	p.A325A	KCNN2_ENST00000264773.3_Silent_p.A325A|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	325					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GGATAATTGCCGCATGGACTG	0.328													C|||	1	0.000199681	8e-04	0	5008	,	,		18442	0		0	False		,,,				2504	0					uc003kqo.3																			0		p.A325G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(973-975)gcC>gcT		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.		C		7,4397	12.9+/-30.5	0,7,2195	133	133	133		975	-0.1	1	5	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	KCNN2	NM_021614.2		0,7,6495	TT,TC,CC		0.0,0.1589,0.0538		325/580	113740527	7,12997	2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740527C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.975C>T	5.37:g.113740527C>T							p.A325A	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1432	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	325					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.975C>T	CCDS4114.1																																																																																				0.328	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		T	113740527	C	T	113740527	2	4	96	1	0	0	0	0	0	0	0	1	8079	639	23	2		2	KCNN2	5	113740527	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	6056335	113740527	67174733	60	6429											
PCDHA3	56145	broad.mit.edu	37	chr5	140180853	140180853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctgctcctcgcagcctCggaggtggggagcggccagc	4	8	15	14	3	2	0	0	0	2	0	5	2	3	2	3	5	4	2	3	5	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140180853C>T	ENST00000522353.2	+	1	71	c.71C>T	c.(70-72)tCg>tTg	p.S24L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S24L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	24					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCAGCCTCGGAGGTGGGG	0.597																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(70-72)tCg>tTg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							59	65	63					5																	140180853		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140180853C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.71C>T	5.37:g.140180853C>T	ENSP00000429808:p.Ser24Leu					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S24L	p.S24L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	71	+			37					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.71C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	3.039	-0.197867	0.06219	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50813	0.82;0.73	4.65	3.78	0.43462	.	0.209202	0.24229	U	0.040374	T	0.31888	0.0811	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28235	-1.0050	10	0.54805	T	0.06	.	13.5606	0.61786	0.0:0.2988:0.7012:0.0	.	24;24	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	24	ENSP00000429808:S24L;ENSP00000434086:S24L	ENSP00000429808:S24L	S	+	2	0	PCDHA3	140161037	1.000000	0.71417	0.935000	0.37517	0.044000	0.14063	2.629000	0.46485	1.105000	0.41606	-0.204000	0.12730	TCG		0.597	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140180853	C	T	140180853	3	4	96	1	0	0	0	0	1	0	0	0	11525	893	31	2	73	2	PCDHA3	5	140180853	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	26440326	140180853	40734407	61	6430											
PCDHA4	56144	broad.mit.edu	37	chr5	140188279	140188279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcgggtaggggagcgcGcgctgtcgagctacgtttcg	5	7	19	10	8	0	0	0	0	0	0	2	2	0	1	0	4	4	4	0	4	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140188279G>A	ENST00000530339.1	+	1	1507	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503T	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGAGCGCGCGCTGTCGAG	0.662																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1507-1509)Gcg>Acg		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							54	55	55					5																	140188279		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188279G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1507G>A	5.37:g.140188279G>A	ENSP00000435300:p.Ala503Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A503T|PCDHAC2_uc011daa.2_Missense_Mutation_p.A503T	p.A503T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1608	+			517			Cadherin 5.		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1507G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.422976	0.25639	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52983	0.7;0.64;0.68	4.18	-1.28	0.09318	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.23094	0.0558	N	0.10874	0.06	0.09310	N	1	B;P;B	0.35033	0.362;0.481;0.416	B;B;B	0.37550	0.072;0.253;0.113	T	0.14811	-1.0459	10	0.62326	D	0.03	.	1.7485	0.02967	0.1824:0.4049:0.1981:0.2145	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	503	ENSP00000423470:A503T;ENSP00000349344:A503T;ENSP00000435300:A503T	ENSP00000349344:A503T	A	+	1	0	PCDHA4	140168463	0.000000	0.05858	0.470000	0.27216	0.651000	0.38670	-0.431000	0.06965	-0.017000	0.14103	0.580000	0.79431	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		A	140188279	G	A	140188279	3	1	96	1	0	0	0	0	1	0	0	0	11526	1087	38	1	1509	1	PCDHA4	5	140188279	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	7426	140188279	40726981	62	6431											
PCDHB4	56131	broad.mit.edu	37	chr5	140502471	140502471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaataaatgaagtcacGggagaaatactgttgaaaaa	18	10	8	5	1	2	3	2	2	1	1	3	4	2	3	0	1	1	1	0	1	8	4	rs375984500	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140502471G>A	ENST00000194152.1	+	1	891	c.891G>A	c.(889-891)acG>acA	p.T297T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAAGTCACGGGAGAAATAC	0.358													G|||	4	0.000798722	0	0	5008	,	,		20032	0		0	False		,,,				2504	0.0041					uc003lip.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(889-891)acG>acA		Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.							86	103	97					5																	140502471		2197	4298	6495	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502471G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.891G>A	5.37:g.140502471G>A							p.T297T	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	891	+			297			Cadherin 3.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.891G>A	CCDS4246.1																																																																																				0.358	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140502471	G	A	140502471	2	1	96	1	0	0	0	0	0	0	0	1	11544	1103	39	2		2	PCDHB4	5	140502471	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	314192	140502471	40412789	63	6432											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggcggccgcggtctcctgcg	2	9	16	14	5	2	0	0	0	2	0	3	0	2	0	3	6	2	1	3	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140712338C>T	ENST00000517417.1	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A696V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A696V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672																																						uc003lji.2																			2	Substitution - Missense(2)	p.A696V(2)|p.I695N(1)	endometrium(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2086-2088)gCg>gTg		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							73	84	81					5																	140712338		2203	4296	6499	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712338C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2087C>T	5.37:g.140712338C>T	ENSP00000431083:p.Ala696Val					PCDHGC5_uc011dan.2_Missense_Mutation_p.A696V	p.A696V	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2087	+			697					Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2087C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726327	0.69074	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52295	0.67;0.68	3.87	3.87	0.44632	.	0.000000	0.49305	D	0.000160	T	0.76543	0.4002	H	0.96916	3.905	0.35183	D	0.772664	D;D	0.76494	0.981;0.999	P;D	0.65140	0.89;0.932	D	0.88648	0.3180	10	0.87932	D	0	.	14.1628	0.65457	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	696	ENSP00000431083:A696V;ENSP00000367345:A696V	ENSP00000367345:A696V	A	+	2	0	PCDHGA1	140692522	0.111000	0.22076	0.925000	0.36789	0.038000	0.13279	2.489000	0.45285	2.162000	0.67917	0.585000	0.79938	GCG		0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140712338	C	T	140712338	3	4	96	1	0	0	0	0	1	0	0	0	11550	768	27	1	2089	1	PCDHGA1	5	140712338	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	209867	140712338	40202922	64	6433											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789386	140789386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccgcgaccacggctcGcccacgctcagcgccaacgt	7	3	11	20	7	1	0	1	0	0	0	2	1	1	0	4	2	2	2	4	2	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140789386G>A	ENST00000520790.1	+	1	1617	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGGCTCGCCCACGCTCA	0.701																																						uc003lkj.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1615-1617)tcG>tcA		Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.							14	19	18					5																	140789386		2020	4160	6180	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789386G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1617G>A	5.37:g.140789386G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.S539S	p.S539S	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1617	+			541			Cadherin 5.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1617G>A	CCDS54929.1																																																																																				0.701	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		A	140789386	G	A	140789386	2	1	96	1	0	0	0	0	0	0	0	1	11567	1074	38	1		1	PCDHGB6	5	140789386	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	77048	140789386	40125874	65	6434											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802272	140802272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcacttactctctgaCggatgacactgtccaggggg	7	10	12	12	1	2	2	1	2	1	0	4	3	3	3	2	4	1	0	2	4	1	1	rs371027437		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140802272C>T	ENST00000398587.2	+	1	1511	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T493M	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTCTGACGGATGACACT	0.532																																						uc003lkq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1477-1479)aCg>aTg		Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.							88	97	94					5																	140802272		2100	4251	6351	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802272C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1478C>T	5.37:g.140802272C>T	ENSP00000381589:p.Thr493Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.T493M|PCDHGC5_uc003lkp.2_Missense_Mutation_p.T493M	p.T493M	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1736	+			494			Cadherin 5.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1478C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	0.603	-0.828341	0.02734	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01804	4.63;4.63	6.02	-12.0	0.00017	Cadherin (4);Cadherin-like (1);	19.832600	0.03049	U	0.154395	T	0.01061	0.0035	N	0.16201	0.385	0.09310	N	1	B;B;B	0.29627	0.098;0.252;0.134	B;B;B	0.23419	0.046;0.046;0.016	T	0.40059	-0.9583	10	0.45353	T	0.12	.	7.7575	0.28933	0.1341:0.1937:0.0634:0.6088	.	493;493;493	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	493	ENSP00000381589:T493M;ENSP00000428333:T493M	ENSP00000381589:T493M	T	+	2	0	PCDHGA11	140782456	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.803000	0.01740	-2.080000	0.00870	-1.695000	0.00724	ACG		0.532	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		T	140802272	C	T	140802272	3	4	96	1	0	0	0	0	1	0	0	0	11552	536	19	1	1480	1	PCDHGA11	5	140802272	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	12886	140802272	40112988	66	6435											
PDGFRB	5159	broad.mit.edu	37	chr5	149497261	149497261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggggatgatatagtcGttgtcaccctcattgggctg	7	11	15	8	1	2	1	2	1	0	0	3	2	2	2	1	4	0	3	1	4	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:149497261G>A	ENST00000261799.4	-	22	3526	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1019					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.N1019N(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATATAGTCGTTGTCACCCT	0.642			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		1	Substitution - coding silent(1)	p.N1019N(2)	large_intestine(1)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3055-3057)aaC>aaT		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						101	98	99					5																	149497261		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497261G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3057C>T	5.37:g.149497261G>A						PDGFRB_uc010jhd.3_Silent_p.N858N	p.N1019N	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	3526	-		all_hematologic(541;0.224)	1019					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3057C>T	CCDS4303.1																																																																																				0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		A	149497261	G	A	149497261	2	1	96	1	0	0	0	0	0	0	0	1	11662	1136	40	1		1	PDGFRB	5	149497261	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	8694989	149497261	31417999	67	6436											
FGF18	8817	broad.mit.edu	37	chr5	170883601	170883601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggagaacaactacaCggccctgatgtcggctaagt	10	9	12	10	2	1	2	0	1	1	1	2	3	1	2	1	4	3	2	1	4	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:170883601C>T	ENST00000274625.5	+	5	960	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	139					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAACTACACGGCCCTGATG	0.592																																						uc003mbk.3																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(415-417)aCg>aTg		Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.							96	95	95					5																	170883601		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883601C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.416C>T	5.37:g.170883601C>T	ENSP00000274625:p.Thr139Met						p.T139M	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	953	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	139					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.416C>T	CCDS4378.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326253	0.81580	.	.	ENSG00000156427	ENST00000274625	D	0.81996	-1.56	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94514	0.7721	10	0.87932	D	0	-2.3042	18.4784	0.90802	0.0:1.0:0.0:0.0	.	139	O76093	FGF18_HUMAN	M	139	ENSP00000274625:T139M	ENSP00000274625:T139M	T	+	2	0	FGF18	170816206	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.487000	0.81328	2.468000	0.83385	0.655000	0.94253	ACG		0.592	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		T	170883601	C	T	170883601	3	4	96	1	0	0	0	0	1	0	0	0	5846	536	19	1	434	1	FGF18	5	170883601	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	21386340	170883601	10031659	68	6437											
TSPAN17	26262	broad.mit.edu	37	chr5	176078841	176078841	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagttggaggcgtcatgtcGgtgctgggctttgctggctg	3	13	18	7	2	1	0	1	0	0	0	2	1	1	1	0	5	2	6	0	5	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:176078841G>A	ENST00000503045.1	+	3	280	c.225G>A	c.(223-225)tcG>tcA	p.S75S	TSPAN17_ENST00000515708.1_Silent_p.S75S|TSPAN17_ENST00000310032.8_Silent_p.S75S|TSPAN17_ENST00000508164.1_Silent_p.S75S|TSPAN17_ENST00000405525.2_Silent_p.S75S|TSPAN17_ENST00000298564.10_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	75					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTCATGTCGGTGCTGGGCT	0.612																																						uc003met.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(223-225)tcG>tcA		Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.							157	149	152					5																	176078841		2203	4300	6503	SO:0001819	synonymous_variant	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176078841G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"Tetraspanins"	13594	protein-coding gene	gene with protein product			"F-box only protein 23, transmembrane 4 superfamily member 17"	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.225G>A	5.37:g.176078841G>A						TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Silent_p.S75S|TSPAN17_uc003mew.3_Silent_p.S75S	p.S75S	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	454	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	75					Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37	c.225G>A																																																																																					0.612	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			A	176078841	G	A	176078841	2	1	96	1	0	0	0	0	0	0	0	1	16638	1103	39	2		2	TSPAN17	5	176078841	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	5195240	176078841	4836419	69	6438											
WRNIP1	56897	broad.mit.edu	37	chr6	2770518	2770518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actattttaatgcgagcgatCaactccctgggaatccacgt	11	11	8	11	3	1	0	1	0	0	0	3	3	3	1	2	1	3	0	2	1	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:2770518C>T	ENST00000380773.4	+	3	1388	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	WRNIP1_ENST00000380764.1_Silent_p.I9I|WRNIP1_ENST00000380771.4_Silent_p.I368I|WRNIP1_ENST00000380769.4_Silent_p.I173I	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGAGCGATCAACTCCCTGG	0.532																																						uc003mtz.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1177-1179)atC>atT		Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.							126	115	119					6																	2770518		2203	4300	6503	SO:0001819	synonymous_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770518C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1179C>T	6.37:g.2770518C>T						WRNIP1_uc003mua.3_Silent_p.I368I	p.I393I	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			2	1370	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	393						Silent	SNP	ENST00000380773.4	37	c.1179C>T	CCDS4475.1																																																																																				0.532	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		T	2770518	C	T	2770518	2	4	96	1	0	0	0	0	0	0	0	1	17400	816	29	3		3	WRNIP1	6	2770518	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		2770518	168344549	70	6439											
SLC35B3	51000	broad.mit.edu	37	chr6	8422856	8422856	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtaggtttttcctggtaTtctgtaaaagacaattttta	11	18	7	5	0	1	1	0	0	1	1	2	1	2	1	1	2	0	4	1	2	6	9			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:8422856T>C	ENST00000379660.4	-	5	870	c.421A>G	c.(421-423)Ata>Gta	p.I141V	SLC35B3_ENST00000339306.5_Splice_Site_p.I141V	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	141					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTTCCTGGTATTCTGTAAAAG	0.338																																					Melanoma(83;700 1353 9357 11478 30548)	uc011did.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15						c.e5-1		Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.							83	81	82					6																	8422856		2203	4300	6503	SO:0001630	splice_region_variant	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8422856T>C	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.420-1A>G	6.37:g.8422856T>C						SLC35B3_uc003myc.3_Intron|SLC35B3_uc003myd.3_Splice_Site|SLC35B3_uc010joe.3_Splice_Site_p.R140_splice|SLC35B3_uc003myb.3_Splice_Site_p.R140_splice	p.R140_splice	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN			5	797	-	Ovarian(93;0.0569)		140					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.420_splice	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443145	0.25987	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	T;T	0.31769	1.48;1.48	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	L	0.31664	0.95	0.80722	D	1	B;B	0.34103	0.437;0.41	B;B	0.42882	0.326;0.401	T	0.07986	-1.0744	9	.	.	.	-22.3145	15.0448	0.71819	0.0:0.0:0.0:1.0	.	141;141	Q9H1N7;B2R8V5	S35B3_HUMAN;.	V	141	ENSP00000368981:I141V;ENSP00000345902:I141V	.	I	-	1	0	SLC35B3	8367855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.860000	0.86993	2.021000	0.59480	0.477000	0.44152	ATA		0.338	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948	Missense_Mutation	C	8422856	T	C	8422856	5	2	96	1	0	0	0	0	0	0	1	0	14577	1507	52	4	812	4	SLC35B3	6	8422856	Splice_Site	SNP	T	TCGA-06-5858-01A-01D-1696-08	5652338	8422856	162692211	71	6440											
HIVEP1	3096	broad.mit.edu	37	chr6	12124017	12124017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catagaggacgtttctaaaaCggaggcttcccccaaaatcg	13	8	9	11	3	1	1	0	0	1	1	3	3	2	3	2	3	1	2	2	3	5	4	rs201788958	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:12124017C>T	ENST00000379388.2	+	4	4321	c.3989C>T	c.(3988-3990)aCg>aTg	p.T1330M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1330					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTCTAAAACGGAGGCTTCC	0.433																																						uc003nac.3																			0		p.T1330T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3988-3990)aCg>aTg		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.		C	MET/THR	0,3706		0,0,1853	55	52	53		3989	2.5	0	6		53	6,8208		0,6,4101	yes	missense	HIVEP1	NM_002114.2	81	0,6,5954	TT,TC,CC		0.073,0.0,0.0503	benign	1330/2719	12124017	6,11914	1853	4107	5960	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124017C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3989C>T	6.37:g.12124017C>T	ENSP00000368698:p.Thr1330Met					HIVEP1_uc011diq.2_Non-coding_Transcript	p.T1330M	NM_002114	NP_002105	P15822	ZEP1_HUMAN			3	4168	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1330					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3989C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	2.776	-0.254686	0.05829	0.0	7.3E-4	ENSG00000095951	ENST00000379388	T	0.12879	2.64	5.68	2.46	0.29980	.	0.699718	0.11826	N	0.525677	T	0.04861	0.0131	L	0.60455	1.87	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.36286	-0.9754	9	.	.	.	-1.1448	7.4663	0.27324	0.1196:0.6037:0.0:0.2767	.	1330	P15822	ZEP1_HUMAN	M	1330	ENSP00000368698:T1330M	.	T	+	2	0	HIVEP1	12232003	0.004000	0.15560	0.020000	0.16555	0.285000	0.27093	1.995000	0.40767	0.730000	0.32425	0.655000	0.94253	ACG		0.433	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		T	12124017	C	T	12124017	3	4	96	1	0	0	0	0	1	0	0	0	7186	536	19	1	3999	1	HIVEP1	6	12124017	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3701161	12124017	158991050	72	6441											
SIRT5	23408	broad.mit.edu	37	chr6	13588650	13588650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcagaaagtggtgttcCgaccttcagaggagctggag	10	9	15	7	1	1	2	1	0	0	2	2	5	2	4	2	3	2	3	2	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:13588650C>T	ENST00000606117.1	+	4	499	c.203C>T	c.(202-204)cCg>cTg	p.P68L	SIRT5_ENST00000359782.3_Missense_Mutation_p.P68L|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000379262.4_Missense_Mutation_p.P68L	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGTGGTGTTCCGACCTTCAGA	0.423																																						uc003nay.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(202-204)cCg>cTg		Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	Suramin(DB04786)						95	87	90					6																	13588650		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13588650C>T	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.203C>T	6.37:g.13588650C>T	ENSP00000476228:p.Pro68Leu					SIRT5_uc003naw.3_Missense_Mutation_p.P68L|SIRT5_uc003nax.3_Intron|SIRT5_uc011dit.2_Missense_Mutation_p.P68L	p.P68L	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		3	515	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	68			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000606117.1	37	c.203C>T	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044673	0.75732	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.69561	-0.41;-0.41;-0.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.91551	0.5257	10	0.87932	D	0	-19.4538	17.9952	0.89181	0.0:1.0:0.0:0.0	.	68;68;68	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	L	68	ENSP00000352830:P68L;ENSP00000368564:P68L;ENSP00000368552:P68L	ENSP00000352830:P68L	P	+	2	0	SIRT5	13696629	1.000000	0.71417	0.389000	0.26208	0.498000	0.33706	7.478000	0.81082	2.335000	0.79485	0.650000	0.86243	CCG		0.423	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			T	13588650	C	T	13588650	3	4	96	1	0	0	0	0	1	0	0	0	14341	652	23	2	209	2	SIRT5	6	13588650	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1464633	13588650	157526417	73	6442											
SCAND3	114821	broad.mit.edu	37	chr6	28554340	28554340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgcctgaagcgctgaCgagagagttccctggtataa	12	8	12	9	2	0	4	0	2	0	2	1	6	1	4	2	1	3	3	2	1	4	3	rs200336287		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:28554340C>T	ENST00000452236.2	-	1	772	c.155G>A	c.(154-156)cGt>cAt	p.R52H	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAAGCGCTGACGAGAGAGTTC	0.507																																						uc003nlo.3																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(154-156)cGt>cAt		Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.							99	94	96					6																	28554340		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554340C>T																												ENST00000452236.2:c.155G>A	6.37:g.28554340C>T	ENSP00000395259:p.Arg52His					AK056211_uc003nlp.1_5'Flank	p.R52H	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			0	773	-			52			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.155G>A	CCDS34355.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.2	3.956534	0.73902	.	.	ENSG00000232040	ENST00000452236	T	0.07444	3.19	3.46	1.57	0.23409	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10380	0.0254	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13872	-1.0493	9	0.87932	D	0	.	2.3422	0.04263	0.1949:0.5026:0.1901:0.1124	.	52	Q6R2W3	SCND3_HUMAN	H	52	ENSP00000395259:R52H	ENSP00000395259:R52H	R	-	2	0	SCAND3	28662319	0.047000	0.20315	0.259000	0.24435	0.672000	0.39443	1.894000	0.39768	0.244000	0.21351	0.655000	0.94253	CGT		0.507	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			T	28554340	C	T	28554340	3	4	96	1	0	0	0	0	1	0	0	0	13876	536	19	1	3838	1	SCAND3	6	28554340	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14965690	28554340	142560727	74	6443											
CSNK2B	1460	broad.mit.edu	37	chr6	31637206	31637206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggatggcgcctacttcGgcactggtttccctcacatg	7	10	10	14	3	1	0	1	0	0	0	3	1	2	1	2	4	1	2	2	4	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31637206G>A	ENST00000375882.2	+	6	634	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.G160S|CSNK2B_ENST00000375885.4_Missense_Mutation_p.G179S|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.G160S|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.G160S	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	160					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CGCCTACTTCGGCACTGGTTT	0.562																																						uc003nvr.1																			0				central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						c.(478-480)Ggc>Agc		Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.							116	100	105					6																	31637206		2203	4300	6503	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31637206G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.478G>A	6.37:g.31637206G>A	ENSP00000365042:p.Gly160Ser					LY6G5B_uc003nvt.1_5'Flank	p.G160S	NM_001320	NP_001311	P67870	CSK2B_HUMAN			5	818	+			160					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.478G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095441	0.94197	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	6.17	5.31	0.75309	Casein kinase II, regulatory subunit, beta-sheet (1);	0.053774	0.64402	D	0.000001	D	0.86016	0.5832	H	0.98048	4.135	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91438	0.5171	8	0.87932	D	0	-20.0966	13.5664	0.61822	0.0747:0.0:0.9253:0.0	.	160;160	Q5SRQ3;P67870	.;CSK2B_HUMAN	S	179;160;160;160;160	.	ENSP00000365025:G160S	G	+	1	0	CSNK2B	31745185	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	7.211000	0.77933	1.626000	0.50381	0.655000	0.94253	GGC		0.562	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		A	31637206	G	A	31637206	3	1	96	1	0	0	0	0	1	0	0	0	3959	1116	39	2	496	2	CSNK2B	6	31637206	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3082866	31637206	139477861	75	6444											
EHMT2	10919	broad.mit.edu	37	chr6	31852241	31852241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcggttgagttgaagcGcaaaccacacgtcggagcgc	9	7	14	11	5	0	2	0	2	0	0	1	3	0	3	1	2	4	4	1	2	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31852241G>A	ENST00000375537.4	-	21	2705	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	EHMT2_ENST00000375530.4_Missense_Mutation_p.A866V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.A957V|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Missense_Mutation_p.A923V	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	900					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGTTGAAGCGCAAACCACAC	0.612																																						uc003nxz.1																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2698-2700)gCg>gTg		Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.							134	126	129					6																	31852241		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852241G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2699C>T	6.37:g.31852241G>A	ENSP00000364687:p.Ala900Val					EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	p.A900V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			20	2709	-			900					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2699C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076365	0.55753	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.71341	-0.56;-0.44;-0.38;-0.55	5.34	5.34	0.76211	.	0.187461	0.45126	D	0.000391	T	0.50990	0.1648	L	0.58428	1.81	0.54753	D	0.999985	P;P;P;B	0.46512	0.772;0.854;0.879;0.065	B;B;B;B	0.28232	0.039;0.058;0.087;0.009	T	0.61237	-0.7103	10	0.39692	T	0.17	.	17.8774	0.88829	0.0:0.0:1.0:0.0	.	923;866;900;721	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	957;923;866;900;721	ENSP00000379078:A957V;ENSP00000364678:A923V;ENSP00000364680:A866V;ENSP00000364687:A900V	ENSP00000364678:A923V	A	-	2	0	EHMT2	31960220	1.000000	0.71417	0.984000	0.44739	0.114000	0.19823	9.026000	0.93700	2.508000	0.84585	0.549000	0.68633	GCG		0.612	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31852241	G	A	31852241	3	1	96	1	0	0	0	0	1	0	0	0	4984	1087	38	1	965	1	EHMT2	6	31852241	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	215035	31852241	139262826	76	6445											
CYP21A2	1589	broad.mit.edu	37	chr6	32008215	32008215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggagctagaccaCgaactgggccctggtgcctc	8	6	14	13	1	0	1	0	0	0	1	1	4	0	3	3	4	4	2	3	4	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:32008215C>T	ENST00000418967.2	+	8	1130	c.972C>T	c.(970-972)caC>caT	p.H324H	CYP21A2_ENST00000435122.2_Silent_p.H294H	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	323					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	AGCTAGACCACGAACTGGGCC	0.677																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						c.(970-972)caC>caT		Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.							39	32	34					6																	32008215		2202	4298	6500	SO:0001819	synonymous_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32008215C>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.972C>T	6.37:g.32008215C>T						CYP21A2_uc003nzf.2_Silent_p.H294H	p.H324H	NM_000500	NP_000491	P08686	CP21A_HUMAN			7	1079	+			323					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	c.972C>T	CCDS4735.1																																																																																				0.677	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		T	32008215	C	T	32008215	2	4	96	1	0	0	0	0	0	0	0	1	4153	535	19	1		1	CYP21A2	6	32008215	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	155974	32008215	139106852	77	6446											
USP49	25862	broad.mit.edu	37	chr6	41773646	41773646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagggtgtgcagttcaCggcagagggaaatgtgcttt	10	9	17	5	1	1	2	1	0	0	2	1	4	1	4	0	4	2	4	0	4	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:41773646C>T	ENST00000394253.3	-	3	1405	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	USP49_ENST00000373009.3_Missense_Mutation_p.R359H|USP49_ENST00000373010.1_Missense_Mutation_p.R359H|USP49_ENST00000297229.2_Missense_Mutation_p.R359H|USP49_ENST00000373006.1_Missense_Mutation_p.R359H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	359	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCAGTTCACGGCAGAGGGA	0.602																																						uc003ori.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1075-1077)cGt>cAt		Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.							67	65	66					6																	41773646		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773646C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1076G>A	6.37:g.41773646C>T	ENSP00000377797:p.Arg359His						p.R359H	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1298	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		359					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1076G>A		.	.	.	.	.	.	.	.	.	.	C	3.818	-0.038322	0.07497	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.1	3.98	0.46160	.	0.089576	0.85682	N	0.000000	T	0.02970	0.0088	N	0.01631	-0.79	0.29515	N	0.853924	B	0.02656	0.0	B	0.04013	0.001	T	0.43653	-0.9378	10	0.02654	T	1	-12.9666	8.6097	0.33795	0.0:0.0973:0.0:0.9027	.	359	Q70CQ1-2	.	H	359	ENSP00000377797:R359H;ENSP00000362101:R359H;ENSP00000362100:R359H;ENSP00000362097:R359H;ENSP00000297229:R359H	ENSP00000297229:R359H	R	-	2	0	USP49	41881624	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.031000	0.64134	0.939000	0.37446	0.655000	0.94253	CGT		0.602	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		T	41773646	C	T	41773646	3	4	96	1	0	0	0	0	1	0	0	0	17077	536	19	1	862	1	USP49	6	41773646	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	9765431	41773646	129341421	78	6447											
GPR116	221395	broad.mit.edu	37	chr6	46836637	46836637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccattccactccctggtcGaggtcttgactgtcagtact	7	12	8	14	1	2	1	1	1	1	0	5	2	4	1	3	2	1	1	3	2	1	3	rs570716966		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836637G>A	ENST00000283296.7	-	12	1892	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	GPR116_ENST00000362015.4_Missense_Mutation_p.S535L|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.S535L|GPR116_ENST00000456426.2_Missense_Mutation_p.S393L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	535	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTCCCTGGTCGAGGTCTTGAC	0.448																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1603-1605)tCg>tTg		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							135	135	135					6																	46836637		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836637G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1604C>T	6.37:g.46836637G>A	ENSP00000283296:p.Ser535Leu					GPR116_uc011dwj.1_Missense_Mutation_p.S90L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S393L|GPR116_uc003oyq.3_Missense_Mutation_p.S535L|GPR116_uc010jzi.1_Missense_Mutation_p.S207L	p.S535L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		11	1893	-			535			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1604C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087015	0.36855	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.19105	2.92;2.92;2.17;2.92	5.23	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.379952	0.21682	N	0.070707	T	0.05502	0.0145	N	0.24115	0.695	0.21386	N	0.999708	P;P;P;P	0.49961	0.734;0.726;0.93;0.726	B;B;B;B	0.41412	0.05;0.123;0.356;0.123	T	0.12400	-1.0549	10	0.72032	D	0.01	-0.0451	7.7615	0.28955	0.2643:0.0:0.7357:0.0	.	90;535;393;535	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	L	535;535;535;393;535	ENSP00000283296:S535L;ENSP00000354563:S535L;ENSP00000412866:S393L;ENSP00000265417:S535L	ENSP00000265417:S535L	S	-	2	0	GPR116	46944596	0.008000	0.16893	0.182000	0.23118	0.986000	0.74619	1.656000	0.37355	0.554000	0.29061	0.591000	0.81541	TCG		0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46836637	G	A	46836637	3	1	96	1	0	0	0	0	1	0	0	0	6633	1059	37	2	2476	2	GPR116	6	46836637	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5062991	46836637	124278430	79	6448											
GPR116	221395	broad.mit.edu	37	chr6	46836810	46836810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaacagaaattgggtcCggggttattgttagattggc	11	12	13	5	1	1	3	1	0	0	3	2	3	2	3	1	4	1	2	1	4	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836810C>T	ENST00000283296.7	-	12	1719	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	GPR116_ENST00000362015.4_Silent_p.P477P|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Silent_p.P477P|GPR116_ENST00000456426.2_Silent_p.P335P	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	477	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAATTGGGTCCGGGGTTATTG	0.363																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1429-1431)ccG>ccA		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							56	57	57					6																	46836810		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836810C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1431G>A	6.37:g.46836810C>T						GPR116_uc011dwj.1_Silent_p.P32P|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Silent_p.P335P|GPR116_uc003oyq.3_Silent_p.P477P|GPR116_uc010jzi.1_Silent_p.P149P	p.P477P	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		11	1720	-			477			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.1431G>A	CCDS4919.1																																																																																				0.363	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		T	46836810	C	T	46836810	2	4	96	1	0	0	0	0	0	0	0	1	6633	639	23	2		2	GPR116	6	46836810	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	173	46836810	124278257	80	6449											
TAB2	23118	broad.mit.edu	37	chr6	149699411	149699411	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggccagtccaatagtgaActatttcagcaggagccaca	12	8	11	10	0	1	1	1	1	0	0	2	2	2	2	3	3	3	1	3	3	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:149699411A>G	ENST00000367456.1	+	4	937	c.360A>G	c.(358-360)gaA>gaG	p.E120E	TAB2_ENST00000392282.1_Silent_p.E120E|TAB2_ENST00000536230.1_Silent_p.E88E|TAB2_ENST00000286332.5_Silent_p.E120E|TAB2_ENST00000538427.1_Silent_p.E120E			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	120					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATAGTGAACTATTTCAGC	0.458																																						uc003qmj.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(358-360)gaA>gaG		Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.							78	69	72					6																	149699411		2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699411A>G	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.360A>G	6.37:g.149699411A>G						TAB2_uc011eec.2_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.2_Silent_p.E120E|TAB2_uc003qmk.4_Non-coding_Transcript	p.E120E	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			2	538	+			120					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.360A>G	CCDS5214.1																																																																																				0.458	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			G	149699411	A	G	149699411	2	3	96	1	0	0	0	0	0	0	0	1	15493	40	2	4		4	TAB2	6	149699411	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	102862601	149699411	21415656	81	6450											
MLLT4	4301	broad.mit.edu	37	chr6	168348980	168348980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattttacaggagcagaCgcctccgcctagacctgaag	11	8	9	13	2	1	3	1	1	0	2	2	4	2	4	4	1	2	1	4	1	3	3	rs145954704	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:168348980C>T	ENST00000447894.2	+	28	3632	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M	MLLT4_ENST00000351017.4_Missense_Mutation_p.T1218M|MLLT4_ENST00000400822.3_Missense_Mutation_p.T1210M|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1211M|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1211M|MLLT4_ENST00000366806.2_Missense_Mutation_p.T1211M|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1194M			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1211					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGGAGCAGACGCCTCCGCCT	0.418			T	MLL	AL																																	uc021zik.1				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3508-3510)aCg>aTg		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	62	61	61		3632,3581	-1.1	0	6	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLLT4	NM_001040000.2,NM_001207008.1	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	1211/1652,1194/1744	168348980	3,13003	2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168348980C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3632C>T	6.37:g.168348980C>T	ENSP00000404595:p.Thr1211Met					MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.2_Missense_Mutation_p.T1211M|MLLT4_uc021zij.1_Missense_Mutation_p.T1194M|MLLT4_uc021zim.1_Missense_Mutation_p.T757M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	p.T1170M	NM_001040000	NP_001035089	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	27	3828	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1211					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3509C>T		.	.	.	.	.	.	.	.	.	.	C	11.53	1.666803	0.29604	4.54E-4	1.16E-4	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04603	3.8;3.7;3.8;3.79;3.59;3.7;3.7	5.52	-1.07	0.09968	.	0.260464	0.38837	N	0.001560	T	0.02455	0.0075	M	0.63428	1.95	0.44880	D	0.997899	P;P;P;B	0.48162	0.599;0.853;0.906;0.331	B;B;B;B	0.42361	0.143;0.366;0.385;0.068	T	0.47873	-0.9083	10	0.34782	T	0.22	-8.1705	10.4687	0.44624	0.0:0.3575:0.4815:0.1609	.	1211;1210;1211;1195	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	M	1211;1218;1211;1211;1194;1211;1210;1211	ENSP00000341118:T1211M;ENSP00000252692:T1218M;ENSP00000375956:T1211M;ENSP00000355771:T1211M;ENSP00000375960:T1194M;ENSP00000383623:T1210M;ENSP00000404595:T1211M	ENSP00000345834:T1211M	T	+	2	0	MLLT4	168091829	0.012000	0.17670	0.014000	0.15608	0.335000	0.28730	0.200000	0.17257	-0.589000	0.05874	-0.150000	0.13652	ACG		0.418	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168348980	C	T	168348980	3	4	96	1	0	0	0	0	1	0	0	0	9629	536	19	1	3742	1	MLLT4	6	168348980	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	18649569	168348980	2766087	82	6451											
SDK1	221935	broad.mit.edu	37	chr7	4091337	4091337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tattgccccagatttccacgGagtccaccatggacacataa	12	9	7	13	1	0	1	0	0	0	1	2	3	2	3	5	2	1	0	5	2	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4091337G>A	ENST00000404826.2	+	19	2925	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	SDK1_ENST00000389531.3_Missense_Mutation_p.G929E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	929	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATTTCCACGGAGTCCACCAT	0.567																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2785-2787)gGa>gAa		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							142	127	132					7																	4091337		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4091337G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2786G>A	7.37:g.4091337G>A	ENSP00000385899:p.Gly929Glu					SDK1_uc010kso.3_Missense_Mutation_p.G205E	p.G929E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2925	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	929			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2786G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582422	0.13749	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53206	0.63;0.63	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.47948	0.1473	N	0.20401	0.57	0.24318	N	0.995051	B;D	0.67145	0.314;0.996	B;P	0.58660	0.121;0.843	T	0.43196	-0.9406	10	0.46703	T	0.11	.	12.9456	0.58371	0.0734:0.0:0.9266:0.0	.	929;929	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	E	929	ENSP00000385899:G929E;ENSP00000374182:G929E	ENSP00000374182:G929E	G	+	2	0	SDK1	4057863	0.967000	0.33354	0.108000	0.21378	0.514000	0.34195	3.629000	0.54266	2.648000	0.89879	0.650000	0.86243	GGA		0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4091337	G	A	4091337	3	1	96	1	0	0	0	0	1	0	0	0	13968	1174	41	3	2860	3	SDK1	7	4091337	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		4091337	155047326	83	6452											
PAPOLB	56903	broad.mit.edu	37	chr7	4900644	4900644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttccgtacaagagttgaCgctactgcatttggataaag	13	12	9	7	2	0	2	0	1	0	1	1	3	1	3	1	1	3	4	1	1	6	6	rs112213840	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4900644C>T	ENST00000404991.1	-	1	981	c.795G>A	c.(793-795)gcG>gcA	p.A265A	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	265					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGAGTTGACGCTACTGCAT	0.428																																						uc003snk.3																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(796-798)gcG>gcA		Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.		C	,	2,4398	2.1+/-5.4	0,2,2198	112	115	114		,798	-2	1	7	dbSNP_132	114	0,8600		0,0,4300	no	intron,coding-synonymous	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,	0,2,6498	TT,TC,CC		0.0,0.0455,0.0154	,	,266/638	4900644	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900644C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.795G>A	7.37:g.4900644C>T						RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	p.A266A	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	0	982	-		Ovarian(82;0.0175)	265					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.798G>A																																																																																					0.428	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		T	4900644	C	T	4900644	2	4	96	1	0	0	0	0	0	0	0	1	11430	523	19	1		1	PAPOLB	7	4900644	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	809307	4900644	154238019	84	6453											
FBXL18	80028	broad.mit.edu	37	chr7	5521489	5521489	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccagggggacgtcccGgatgacgtcggtcaggccct	6	6	16	13	4	1	1	1	1	0	0	3	3	2	3	3	5	1	1	3	5	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5521489G>T	ENST00000382368.3	-	5	2197	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGACGTCCCGGATGACGTCG	0.642																																						uc003son.4																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(2074-2076)Cgg>Agg		Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.							88	100	96					7																	5521489		2041	4181	6222	SO:0001819	synonymous_variant	80028							g.chr7:5521489G>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2074C>A	7.37:g.5521489G>T							p.R692R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	4	2168	-		Ovarian(82;0.0607)	0					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.2074C>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448375	0.26074	.	.	ENSG00000155034	ENST00000297035	.	.	.	4.83	2.64	0.31445	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73646	-0.3917	5	0.87932	D	0	.	10.8803	0.46935	0.0:0.0:0.4208:0.5792	.	.	.	.	Q	251	.	ENSP00000297035:P251Q	P	-	2	0	FBXL18	5488015	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.992000	0.49417	1.130000	0.42092	0.511000	0.50034	CCG		0.642	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		T	5521489	G	T	5521489	2	4	96	1	0	0	0	0	0	0	0	1	5714	1115	39	5		5	FBXL18	7	5521489	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	620845	5521489	153617174	85	6454											
FBXL18	80028	broad.mit.edu	37	chr7	5540355	5540355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccccgacactctgtgcGcggctgcagggtgggagcga	6	6	17	12	4	1	0	0	0	1	0	2	4	2	1	2	3	3	2	2	3	0	0	rs367548523		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5540355G>A	ENST00000382368.3	-	3	1668	c.1545C>T	c.(1543-1545)cgC>cgT	p.R515R	FBXL18_ENST00000453700.3_Silent_p.R515R	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	515									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CACTCTGTGCGCGGCTGCAGG	0.687													G|||	1	0.000199681	0	0	5008	,	,		12700	0		0	False		,,,				2504	0.001					uc003soo.2																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1543-1545)cgC>cgT		Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.		G		0,4094		0,0,2047	10	14	13		1545	-3	1	7		13	1,8315		0,1,4157	no	coding-synonymous	FBXL18	NM_024963.4		0,1,6204	AA,AG,GG		0.012,0.0,0.0081		515/719	5540355	1,12409	2047	4158	6205	SO:0001819	synonymous_variant	80028							g.chr7:5540355G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1545C>T	7.37:g.5540355G>A						FBXL18_uc003son.4_Silent_p.R515R	p.R515R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	2	1639	-		Ovarian(82;0.0607)	515					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.1545C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.163|6.163	0.398202|0.398202	0.11696|0.11696	0.0|0.0	1.2E-4|1.2E-4	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000297035	.|.	.|.	.|.	5.18|5.18	-2.97|-2.97	0.05530|0.05530	.|.	.|0.115488	.|0.64402	.|D	.|0.000007	T|T	0.56775|0.56775	0.2008|0.2008	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56384|0.56384	-0.7988|-0.7988	4|6	.|0.87932	.|D	.|0	.|.	5.8875|5.8875	0.18890|0.18890	0.2724:0.228:0.434:0.0656|0.2724:0.228:0.434:0.0656	.|.	.|.	.|.	.|.	V|C	399|75	.|.	.|ENSP00000297035:R75C	A|R	-|-	2|1	0|0	FBXL18|FBXL18	5506881|5506881	0.991000|0.991000	0.36638|0.36638	0.968000|0.968000	0.41197|0.41197	0.791000|0.791000	0.44710|0.44710	0.338000|0.338000	0.19858|0.19858	-0.369000|-0.369000	0.08028|0.08028	-0.353000|-0.353000	0.07706|0.07706	GCG|CGC		0.687	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		A	5540355	G	A	5540355	2	1	96	1	0	0	0	0	0	0	0	1	5714	1074	38	1		1	FBXL18	7	5540355	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	18866	5540355	153598308	86	6455											
MRPL32	64983	broad.mit.edu	37	chr7	42974713	42974713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgtaggagaagaaatcCgcagaagcttattaaagtta	15	9	11	6	2	0	3	0	0	0	3	1	4	1	3	2	2	1	4	2	2	8	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:42974713C>T	ENST00000223324.2	+	2	477	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PSMA2_ENST00000223321.4_5'Flank|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000442788.1_5'Flank|MRPL32_ENST00000496564.1_3'UTR	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	97					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAGAAATCCGCAGAAGCTT	0.408																																						uc003tia.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(289-291)cCg>cTg		Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.							81	77	79					7																	42974713		2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42974713C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.290C>T	7.37:g.42974713C>T	ENSP00000223324:p.Pro97Leu					C7orf25_uc010kxr.3_5'Flank|PSMA2_uc003thy.3_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.3_Non-coding_Transcript	p.P97L	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			1	337	+			97					Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.290C>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085913	0.76642	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.33	5.33	0.75918	.	0.339892	0.34435	N	0.003966	D	0.84365	0.5456	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87512	0.2440	9	0.87932	D	0	-8.3881	19.058	0.93074	0.0:1.0:0.0:0.0	.	97	Q9BYC8	RM32_HUMAN	L	97	.	ENSP00000223324:P97L	P	+	2	0	MRPL32	42941238	0.735000	0.28153	0.589000	0.28718	0.705000	0.40729	5.014000	0.64029	2.469000	0.83416	0.650000	0.86243	CCG		0.408	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		T	42974713	C	T	42974713	3	4	96	1	0	0	0	0	1	0	0	0	9795	652	23	2	296	2	MRPL32	7	42974713	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	37434358	42974713	116163950	87	6456											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806136	44806136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaaaccctcccccagcGtcccggcagtccttgggcca	7	7	8	19	2	1	0	1	0	0	0	4	0	4	0	6	2	2	1	6	2	1	2	rs371215181		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:44806136G>A	ENST00000309315.4	+	18	2652	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZMIZ2_ENST00000265346.7_Silent_p.A817A|ZMIZ2_ENST00000413916.1_Silent_p.A785A|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Silent_p.A843A|ZMIZ2_ENST00000433667.1_Silent_p.A811A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	843	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCCCCCAGCGTCCCGGCAGT	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		15340	0		0	False		,,,				2504	0				NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2527-2529)gcG>gcA		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.		G	,	1,3773		0,1,1886	56	61	60		2529,2451	-3.5	0.1	7		60	0,8258		0,0,4129	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,1,6015	AA,AG,GG		0.0,0.0265,0.0083	,	843/921,817/895	44806136	1,12031	1887	4129	6016	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44806136G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2529G>A	7.37:g.44806136G>A						ZMIZ2_uc003tlq.3_Silent_p.A785A|ZMIZ2_uc003tls.3_Silent_p.A817A|ZMIZ2_uc003tlt.3_Silent_p.A466A|ZMIZ2_uc010kyj.3_Silent_p.A365A|ZMIZ2_uc003tlu.3_Silent_p.A124A|ZMIZ2_uc010kyk.2_5'Flank	p.A843A	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			17	2652	+			843			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2529G>A	CCDS43576.1																																																																																				0.647	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44806136	G	A	44806136	2	1	96	1	0	0	0	0	0	0	0	1	17694	1132	40	1		1	ZMIZ2	7	44806136	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1831423	44806136	114332527	88	6457											
TNS3	64759	broad.mit.edu	37	chr7	47342939	47342939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccactggggcggtgccGaagcccaggaaggcctggct	6	6	15	14	2	0	0	0	0	0	0	1	2	1	1	4	6	2	1	4	6	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:47342939G>A	ENST00000398879.1	-	22	3432	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	TNS3_ENST00000355730.3_Silent_p.F782F|TNS3_ENST00000311160.9_Silent_p.F1022F			Q68CZ2	TENS3_HUMAN	tensin 3	1022					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCGGTGCCGAAGCCCAGGA	0.682																																						uc003tnw.3																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3064-3066)ttC>ttT		Homo sapiens tensin 3 (TNS3), mRNA.							16	20	19					7																	47342939		1939	4121	6060	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47342939G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3066C>T	7.37:g.47342939G>A						TNS3_uc022acn.1_Silent_p.F579F	p.F1022F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			21	3424	-			1022					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.3066C>T	CCDS5506.2																																																																																				0.682	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47342939	G	A	47342939	2	1	96	1	0	0	0	0	0	0	0	1	16341	1049	37	2		2	TNS3	7	47342939	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2536803	47342939	111795724	89	6458											
POM121L12	285877	broad.mit.edu	37	chr7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaaaaatggagcggttGcttccttcgtgcccaggcca	9	9	12	11	2	0	1	0	1	0	0	2	2	1	2	3	3	4	3	3	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:53104043G>T	ENST00000408890.4	+	1	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	227								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647																																						uc003tpz.3																			1	Substitution - Missense(1)	p.A227S(2)	lung(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(679-681)Gct>Tct		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							46	54	51					7																	53104043		1969	4133	6102	SO:0001583	missense	285877							g.chr7:53104043G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.679G>T	7.37:g.53104043G>T	ENSP00000386133:p.Ala227Ser						p.A227S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	695	+			227					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.679G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.018	0.371621	0.11409	.	.	ENSG00000221900	ENST00000408890	T	0.11930	2.73	2.01	-2.62	0.06152	.	.	.	.	.	T	0.05640	0.0148	N	0.05124	-0.11	0.09310	N	1	B	0.23540	0.087	B	0.23574	0.047	T	0.36065	-0.9763	9	0.56958	D	0.05	.	4.3436	0.11122	0.2858:0.3192:0.395:0.0	.	227	Q8N7R1	P1L12_HUMAN	S	227	ENSP00000386133:A227S	ENSP00000386133:A227S	A	+	1	0	POM121L12	53071537	0.000000	0.05858	0.002000	0.10522	0.459000	0.32528	-0.011000	0.12721	-0.741000	0.04797	0.561000	0.74099	GCT		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53104043	G	T	53104043	3	4	96	1	0	0	0	0	1	0	0	0	12241	1319	46	5	681	5	POM121L12	7	53104043	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5761104	53104043	106034620	90	6459											
ZNF107	51427	broad.mit.edu	37	chr7	64168851	64168851	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaccctacaaatgtgaAgaatgtggcaaatcctttaa	17	9	8	7	0	0	3	0	1	0	2	1	4	1	3	2	1	2	1	2	1	7	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:64168851A>G	ENST00000395391.1	+	4	3544	c.2169A>G	c.(2167-2169)gaA>gaG	p.E723E	ZNF107_ENST00000423627.1_Silent_p.E723E|ZNF107_ENST00000344930.3_Silent_p.E723E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATGTGAAGAATGTGGCA	0.348																																						uc003ttd.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(2167-2169)gaA>gaG		Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.							28	30	29					7																	64168851		2201	4296	6497	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168851A>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2169A>G	7.37:g.64168851A>G						ZNF107_uc003tte.3_Silent_p.E723E	p.E723E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			6	2955	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	723						Silent	SNP	ENST00000395391.1	37	c.2169A>G	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		G	64168851	A	G	64168851	2	3	96	1	0	0	0	0	0	0	0	1	17712	69	3	4		4	ZNF107	7	64168851	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	11064808	64168851	94969812	91	6460											
CALN1	83698	broad.mit.edu	37	chr7	71252795	71252795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagtatctggttggctgCaatcagcatgacactgatga	10	10	12	9	1	2	3	1	3	1	0	2	4	2	4	1	3	2	5	1	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:71252795C>T	ENST00000329008.5	-	6	923	c.625G>A	c.(625-627)Gca>Aca	p.A209T	CALN1_ENST00000395276.2_Missense_Mutation_p.A209T|CALN1_ENST00000395275.2_Missense_Mutation_p.A251T|CALN1_ENST00000412588.1_Missense_Mutation_p.A251T|CALN1_ENST00000405452.2_Missense_Mutation_p.A209T|CALN1_ENST00000431984.1_Missense_Mutation_p.A209T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGTTGGCTGCAATCAGCATG	0.587																																						uc003twb.4																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(751-753)Gca>Aca		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.							113	88	96					7																	71252795		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252795C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.625G>A	7.37:g.71252795C>T	ENSP00000332498:p.Ala209Thr					CALN1_uc003twa.4_Missense_Mutation_p.A209T|CALN1_uc003twc.4_Missense_Mutation_p.A209T	p.A251T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1142	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	209					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.751G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446837	0.84101	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80123	-1.1;-1.34;-1.1;-1.1;-1.34;-1.1	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86976	0.2101	10	0.87932	D	0	-44.8612	17.2647	0.87083	0.0:1.0:0.0:0.0	.	209;209	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	209;251;209;209;251;209	ENSP00000332498:A209T;ENSP00000378690:A251T;ENSP00000378691:A209T;ENSP00000410704:A209T;ENSP00000391882:A251T;ENSP00000384354:A209T	ENSP00000332498:A209T	A	-	1	0	CALN1	70890731	1.000000	0.71417	0.993000	0.49108	0.471000	0.32888	7.724000	0.84798	2.303000	0.77524	0.462000	0.41574	GCA		0.587	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71252795	C	T	71252795	3	4	96	1	0	0	0	0	1	0	0	0	2591	710	25	3	38	3	CALN1	7	71252795	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7083944	71252795	87885868	92	6461											
RHBDD2	57414	broad.mit.edu	37	chr7	75511205	75511205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctccctgctctgcggCgctatcatcatctggcgctt	4	12	8	17	3	5	0	2	0	3	0	6	0	5	0	2	2	2	3	2	2	1	2	rs200252846		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:75511205C>T	ENST00000006777.6	+	2	372	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	79						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TGCTCTGCGGCGCTATCATCA	0.567																																						uc003udw.1																			0				kidney(1)|lung(4)|prostate(1)	6						c.(235-237)ggC>ggT		Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.		C	,	1,4093		0,1,2046	107	114	111		237,	-5.9	0.1	7		111	0,8416		0,0,4208	no	coding-synonymous,utr-5	RHBDD2	NM_001040456.1,NM_001040457.1	,	0,1,6254	TT,TC,CC		0.0,0.0244,0.0080	,	79/365,	75511205	1,12509	2047	4208	6255	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511205C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.237C>T	7.37:g.75511205C>T						RHBDD2_uc003udv.1_5'UTR	p.G79G	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN			1	321	+			79					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.237C>T	CCDS43602.1																																																																																				0.567	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		T	75511205	C	T	75511205	2	4	96	1	0	0	0	0	0	0	0	1	13317	755	27	1		1	RHBDD2	7	75511205	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	4258410	75511205	83627458	93	6462											
ZAN	7455	broad.mit.edu	37	chr7	100350423	100350423	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccatctccacagaaaaaCtcaccatccccacagaaaaa	18	5	2	16	0	2	2	1	0	1	2	4	2	3	2	5	0	2	0	5	0	5	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:100350423C>T	ENST00000348028.3	+	0	2860				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAACTCACCATCCC	0.517																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(2695-2697)Ctc>Ttc		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							298	356	338					7																	100350423		1869	4100	5969			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350423C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350423C>T						ZAN_uc003uwk.3_Missense_Mutation_p.L899F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	p.L899F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		13	2860	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		899			66 X heptapeptide repeats (approximate) (mucin-like domain).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2695C>T		.	.	.	.	.	.	.	.	.	.	C	13.37	2.216234	0.39201	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.73575	-0.76;-0.76;-0.76	3.53	-2.55	0.06288	.	1.190190	0.06552	N	0.745264	T	0.61274	0.2334	N	0.14661	0.345	0.09310	N	0.999998	P;D	0.56287	0.927;0.975	P;P	0.53722	0.641;0.733	T	0.50882	-0.8775	10	0.34782	T	0.22	.	0.8106	0.01092	0.1676:0.3601:0.1535:0.3188	.	899;899	F5H0T8;Q9Y493	.;ZAN_HUMAN	F	899	ENSP00000445943:L899F;ENSP00000445091:L899F;ENSP00000444427:L899F	ENSP00000423579:L899F	L	+	1	0	ZAN	100188359	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-3.583000	0.00423	-0.738000	0.04817	0.430000	0.28490	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100350423	C	T	100350423	1	4	96	0	1	0	0	0	0	0	0	0	17510	565	20	3		3	ZAN	7	100350423	RNA	SNP	C	TCGA-06-5858-01A-01D-1696-08	24839218	100350423	58788240	94	6463											
SLC26A5	375611	broad.mit.edu	37	chr7	103014906	103014906	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgggaagggggagcCgaggcttcctgttcagcaag	7	8	15	11	1	1	0	1	0	0	0	4	3	4	2	4	4	2	3	4	4	2	2	rs138320783	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103014906C>A	ENST00000306312.3	-	20	2436	c.2175G>T	c.(2173-2175)tcG>tcT	p.S725S	SLC26A5_ENST00000354356.4_Silent_p.S158S|SLC26A5_ENST00000393723.1_Silent_p.S695S|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393730.1_Silent_p.S693S|SLC26A5_ENST00000393727.1_Silent_p.S727S|SLC26A5_ENST00000393729.1_Silent_p.S688S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Silent_p.S693S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	725					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGGGGGAGCCGAGGCTTCCT	0.532																																						uc003vbz.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(2173-2175)tcG>tcT		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							73	65	68					7																	103014906		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103014906C>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2175G>T	7.37:g.103014906C>A						SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.S693S	p.S725S	NM_198999	NP_945350	P58743	S26A5_HUMAN			19	2437	-			725					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.2175G>T	CCDS5733.1																																																																																				0.532	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		A	103014906	C	A	103014906	2	1	96	1	0	0	0	0	0	0	0	1	14520	639	23	5		5	SLC26A5	7	103014906	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2664483	103014906	56123757	95	6464											
RELN	5649	broad.mit.edu	37	chr7	103162532	103162532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtactcaatttccctccGttcacagtcagccagttctg	8	13	6	14	1	4	0	3	0	1	0	6	0	6	0	3	0	2	3	3	0	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103162532G>A	ENST00000428762.1	-	48	7764	c.7605C>T	c.(7603-7605)aaC>aaT	p.N2535N	RELN_ENST00000343529.5_Silent_p.N2535N|RELN_ENST00000424685.2_Silent_p.N2535N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2535					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTCCCTCCGTTCACAGTCA	0.532																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7603-7605)aaC>aaT		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							143	124	131					7																	103162532		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103162532G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7605C>T	7.37:g.103162532G>A						RELN_uc022ajq.1_Silent_p.N2535N|RELN_uc010liz.3_Silent_p.N2535N	p.N2535N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	47	7765	-			2535					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.7605C>T	CCDS47680.1																																																																																				0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103162532	G	A	103162532	2	1	96	1	0	0	0	0	0	0	0	1	13220	1136	40	1		1	RELN	7	103162532	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	147626	103162532	55976131	96	6465											
CTTNBP2	83992	broad.mit.edu	37	chr7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgcagctgcacccagCggaaatgctgctgcaccagc	9	4	10	18	2	0	0	0	0	0	0	0	1	0	1	4	1	7	6	4	1	1	0	rs35288952|rs200782612		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3796-3798)cGc>cAc		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							69	72	71					7																	117375046		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117375046C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3797G>A	7.37:g.117375046C>T	ENSP00000160373:p.Arg1266His						p.R1266H	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	15	3889	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1266					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3797G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608420	0.87258	.	.	ENSG00000077063	ENST00000160373	T	0.77358	-1.09	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.87547	2.89	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	D	0.88751	0.3250	10	0.87932	D	0	-4.1387	10.1297	0.42672	0.1363:0.7925:0.0:0.0712	.	1266	Q8WZ74	CTTB2_HUMAN	H	1266	ENSP00000160373:R1266H	ENSP00000160373:R1266H	R	-	2	0	CTTNBP2	117162282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.438000	0.66550	1.390000	0.46547	0.655000	0.94253	CGC		0.532	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117375046	C	T	117375046	3	4	96	1	0	0	0	0	1	0	0	0	4045	768	27	1	1226	1	CTTNBP2	7	117375046	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14212514	117375046	41763617	97	6466											
AASS	10157	broad.mit.edu	37	chr7	121773679	121773679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcccttctctcccaggcGttcacatcctccctccggac	4	9	9	19	2	2	0	1	0	1	0	7	1	6	1	5	4	0	1	5	4	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:121773679G>A	ENST00000393376.1	-	1	197	c.102C>T	c.(100-102)aaC>aaT	p.N34N	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.N34N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	34	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCTCCCAGGCGTTCACATCCT	0.582																																						uc003vka.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(100-102)aaC>aaT		Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						115	104	108					7																	121773679		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121773679G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.102C>T	7.37:g.121773679G>A						AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.N34N|AASS_uc011knw.2_Intron	p.N34N	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			0	198	-			34			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.102C>T	CCDS5783.1																																																																																				0.582	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		A	121773679	G	A	121773679	2	1	96	1	0	0	0	0	0	0	0	1	24	1136	40	1		1	AASS	7	121773679	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	4398633	121773679	37364984	98	6467											
NRF1	4899	broad.mit.edu	37	chr7	129357145	129357145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacccaggcggtggcatcGttggcagaggccgcagtggc	6	5	17	13	3	0	1	0	0	0	1	1	1	0	1	3	6	0	4	3	6	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:129357145G>A	ENST00000393232.1	+	9	1269	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	NRF1_ENST00000311967.2_Silent_p.S384S|NRF1_ENST00000393231.3_Silent_p.S384S|NRF1_ENST00000539636.1_Silent_p.S223S|NRF1_ENST00000353868.4_Silent_p.S318S|NRF1_ENST00000223190.4_Silent_p.S384S|NRF1_ENST00000393230.2_Silent_p.S384S	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	384	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGGTGGCATCGTTGGCAGAGG	0.572																																						uc003vpa.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1150-1152)tcG>tcA		Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.							74	67	70					7																	129357145		2203	4300	6503	SO:0001819	synonymous_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357145G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1152G>A	7.37:g.129357145G>A						NRF1_uc003voz.3_Silent_p.S384S|NRF1_uc011kpa.2_Silent_p.S223S|NRF1_uc003vpb.3_Silent_p.S384S	p.S384S	NM_005011	NP_005002	Q16656	NRF1_HUMAN			8	1272	+			384			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	ENST00000393232.1	37	c.1152G>A	CCDS5813.2																																																																																				0.572	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		A	129357145	G	A	129357145	2	1	96	1	0	0	0	0	0	0	0	1	10646	1132	40	1		1	NRF1	7	129357145	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7583466	129357145	29781518	99	6468											
CPA1	1357	broad.mit.edu	37	chr7	130021608	130021608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgaggacgtgcagtcGctgctggacgaggagcagga	10	6	17	8	4	0	1	0	1	0	0	2	7	0	5	0	4	3	4	0	4	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vpx.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(283-285)tcG>tcA		Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.							71	60	64					7																	130021608		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130021608G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.285G>A	7.37:g.130021608G>A			OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	CPA1_uc011kpf.1_Silent_p.S7S|CPA1_uc003vpw.2_Intron	p.S95S	NM_001868	NP_001859	P15085	CBPA1_HUMAN			2	357	+	Melanoma(18;0.0435)		95					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.285G>A	CCDS5820.1																																																																																				0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		A	130021608	G	A	130021608	2	1	96	1	0	0	0	0	0	0	0	1	3789	1074	38	1		1	CPA1	7	130021608	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	664463	130021608	29117055	100	6469											
HIPK2	28996	broad.mit.edu	37	chr7	139259877	139259877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagctgtggggcttacctgGctgagattgagtggctgctg	5	11	16	9	0	0	2	0	2	0	1	0	3	0	2	2	4	3	5	2	4	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:139259877G>C	ENST00000406875.3	-	14	3217	c.3123C>G	c.(3121-3123)agC>agG	p.S1041R	HIPK2_ENST00000428878.2_Missense_Mutation_p.S1014R	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1041	Autoinhibitory domain (AID).|Interaction with AXIN1. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCTTACCTGGCTGAGATTGA	0.672																																						uc003vvf.4																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3121-3123)agC>agG		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							13	18	16					7																	139259877		2070	4211	6281	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139259877G>C	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3123C>G	7.37:g.139259877G>C	ENSP00000385571:p.Ser1041Arg					HIPK2_uc003vvd.4_Missense_Mutation_p.S1014R	p.S1041R	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			13	3394	-	Melanoma(164;0.205)		1041			Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3123C>G		.	.	.	.	.	.	.	.	.	.	G	12.17	1.857157	0.32791	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.60672	0.17;0.2	4.72	1.98	0.26296	.	.	.	.	.	T	0.71651	0.3365	.	.	.	0.45690	D	0.998605	P;D	0.64830	0.94;0.994	P;D	0.71870	0.462;0.975	T	0.70722	-0.4794	8	0.87932	D	0	.	8.8706	0.35314	0.3697:0.0:0.6303:0.0	.	1041;1014	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	R	1041;1014	ENSP00000385571:S1041R;ENSP00000413724:S1014R	ENSP00000385571:S1041R	S	-	3	2	HIPK2	138910417	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.057000	0.49931	0.242000	0.21303	-0.374000	0.07098	AGC		0.672	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139259877	G	C	139259877	3	2	96	1	0	0	0	0	1	0	0	0	7117	1194	42	5	481	5	HIPK2	7	139259877	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	9238269	139259877	19878786	101	6470											
ZNF425	155054	broad.mit.edu	37	chr7	148815402	148815402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctcccactcttgttcCgaaaaatataaggccacatc	13	10	6	12	1	2	0	0	0	2	0	5	2	3	1	3	2	0	1	3	2	4	4	rs560790723		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:148815402C>T	ENST00000378061.2	-	2	189	c.57G>A	c.(55-57)tcG>tcA	p.S19S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S19S(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCTTGTTCCGAAAAATATA	0.393																																						uc003wfj.3																			1	Substitution - coding silent(1)	p.S19S(2)	large_intestine(1)	breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(55-57)tcG>tcA		Homo sapiens zinc finger protein 425 (ZNF425), mRNA.							216	200	205					7																	148815402		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148815402C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.57G>A	7.37:g.148815402C>T							p.S19S	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		1	190	-	Melanoma(164;0.15)		19			KRAB.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.57G>A	CCDS34773.1																																																																																				0.393	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		T	148815402	C	T	148815402	2	4	96	1	0	0	0	0	0	0	0	1	17896	639	23	2		2	ZNF425	7	148815402	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	9555525	148815402	10323261	102	6471											
SLC4A2	6522	broad.mit.edu	37	chr7	150771186	150771186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctcagaggtggacggcGgtgagaacatgacatgggcc	11	5	16	9	2	1	3	1	2	0	2	1	5	1	4	1	5	2	1	1	5	1	0	rs573998641		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:150771186G>A	ENST00000485713.1	+	17	3636	c.2596G>A	c.(2596-2598)Ggt>Agt	p.G866S	SLC4A2_ENST00000310317.5_Missense_Mutation_p.G784S|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G866S|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G852S|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G857S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	866	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGACGGCGGTGAGAACAT	0.677													G|||	1	0.000199681	0	0	5008	,	,		13238	0		0	False		,,,				2504	0.001					uc022apz.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2596-2598)Ggt>Agt		Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.							36	43	41					7																	150771186		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771186G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2596G>A	7.37:g.150771186G>A	ENSP00000419412:p.Gly866Ser					SLC4A2_uc003wit.4_Missense_Mutation_p.G866S|SLC4A2_uc011kve.2_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.4_Missense_Mutation_p.G852S	p.G866S	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	3636	+			866			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.2596G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126462	0.06795	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.54	-1.13	0.09775	Bicarbonate transporter, C-terminal (1);	1.028700	0.07656	N	0.932806	T	0.42765	0.1217	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.17667	0.014;0.018;0.023	B;B;B	0.20384	0.008;0.017;0.029	T	0.37641	-0.9697	10	0.06365	T	0.9	.	10.4035	0.44243	0.3936:0.0:0.6064:0.0	.	857;852;866	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	S	866;866;784;857;852	ENSP00000419412:G866S;ENSP00000405600:G866S;ENSP00000311402:G784S;ENSP00000376571:G857S;ENSP00000419164:G852S	ENSP00000311402:G784S	G	+	1	0	SLC4A2	150402119	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.180000	0.09754	-0.576000	0.05974	-0.367000	0.07326	GGT		0.677	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		A	150771186	G	A	150771186	3	1	96	1	0	0	0	0	1	0	0	0	14654	1116	39	2	2658	2	SLC4A2	7	150771186	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1955784	150771186	8367477	103	6472											
MLL3	58508	broad.mit.edu	37	chr7	151878185	151878185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtcctcggttttgtgCtgcttgcaggaaaggatcct	6	13	13	9	1	0	0	0	0	0	0	3	2	2	2	2	4	4	5	2	4	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:151878185C>T	ENST00000262189.6	-	36	6978	c.6760G>A	c.(6760-6762)Gca>Aca	p.A2254T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2254T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2254	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A2254T(2)									CGGTTTTGTGCTGCTTGCAGG	0.527																																						uc003wla.3										N							medulloblastoma		2	Substitution - Missense(2)	p.A2254T(3)	kidney(2)	NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(6760-6762)Gca>Aca		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							101	105	103					7																	151878185		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878185C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6760G>A	7.37:g.151878185C>T	ENSP00000262189:p.Ala2254Thr					MLL3_uc003wkz.3_Missense_Mutation_p.A1315T	p.A2254T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	6979	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2254			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6760G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161376	0.21538	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83250	-1.7;-1.7	5.37	0.24	0.15489	.	0.773311	0.10844	N	0.627913	T	0.69513	0.3119	L	0.44542	1.39	0.41319	D	0.987161	B;B	0.14438	0.01;0.007	B;B	0.12837	0.004;0.008	T	0.55127	-0.8189	10	0.13853	T	0.58	.	1.6397	0.02750	0.2671:0.3795:0.0909:0.2625	.	2254;1315	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2254	ENSP00000262189:A2254T;ENSP00000347325:A2254T	ENSP00000262189:A2254T	A	-	1	0	MLL3	151509118	0.917000	0.31117	0.970000	0.41538	0.980000	0.70556	0.431000	0.21444	0.048000	0.15891	-0.136000	0.14681	GCA		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151878185	C	T	151878185	3	4	96	1	0	0	0	0	1	0	0	0	9622	797	28	3	8071	3	MLL3	7	151878185	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1106999	151878185	7260478	104	6473											
HTR5A	3361	broad.mit.edu	37	chr7	154863298	154863298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaggctgccaagttccGcgtgggctccaggaagacca	10	6	12	13	2	0	1	0	0	0	1	2	2	2	2	4	3	2	3	4	3	4	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:154863298G>A	ENST00000287907.2	+	1	1265	c.689G>A	c.(688-690)cGc>cAc	p.R230H	HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	230					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCCAAGTTCCGCGTGGGCTCC	0.542																																						uc003wlu.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(688-690)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.							78	74	75					7																	154863298		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863298G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.689G>A	7.37:g.154863298G>A	ENSP00000287907:p.Arg230His					LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	p.R230H	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	0	753	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	230					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.689G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215800	0.79352	.	.	ENSG00000157219	ENST00000287907	T	0.35048	1.33	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	L	0.41906	1.305	0.80722	D	1	P	0.36535	0.557	B	0.35770	0.21	T	0.15636	-1.0430	10	0.44086	T	0.13	.	17.9833	0.89148	0.0:0.0:1.0:0.0	.	230	P47898	5HT5A_HUMAN	H	230	ENSP00000287907:R230H	ENSP00000287907:R230H	R	+	2	0	HTR5A	154494231	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.173000	0.94815	2.485000	0.83878	0.650000	0.86243	CGC		0.542	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		A	154863298	G	A	154863298	3	1	96	1	0	0	0	0	1	0	0	0	7450	1087	38	1	691	1	HTR5A	7	154863298	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2985113	154863298	4275365	105	6474											
PTPRN2	5799	broad.mit.edu	37	chr7	157370776	157370776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagcactgccggacgccGttctccgcgaggggtgtcag	5	8	16	12	5	2	0	1	0	1	0	3	2	2	1	3	4	2	3	3	4	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:157370776G>A	ENST00000389418.4	-	18	2562	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	PTPRN2_ENST00000404321.2_Silent_p.N874N|PTPRN2_ENST00000409483.1_Silent_p.N813N|PTPRN2_ENST00000389416.4_Silent_p.N834N|PTPRN2_ENST00000389413.3_Silent_p.N822N	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	851	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGGACGCCGTTCTCCGCGA	0.622																																						uc003wno.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2551-2553)aaC>aaT		Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.							86	71	76					7																	157370776		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370776G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2553C>T	7.37:g.157370776G>A						PTPRN2_uc003wnp.3_Silent_p.N834N|PTPRN2_uc003wnq.3_Silent_p.N822N|PTPRN2_uc003wnr.3_Silent_p.N813N|PTPRN2_uc011kwa.2_Silent_p.N874N	p.N851N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2674	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	851			Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.2553C>T	CCDS5947.1																																																																																				0.622	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157370776	G	A	157370776	2	1	96	1	0	0	0	0	0	0	0	1	12808	1136	40	1		1	PTPRN2	7	157370776	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2507478	157370776	1767887	106	6475											
VIPR2	7434	broad.mit.edu	37	chr7	158896531	158896531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccgtcactcgtacagtTtttgcttatgtttcctggaa	7	16	7	11	2	1	0	1	0	0	0	4	1	3	1	3	1	2	4	3	1	3	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:158896531T>C	ENST00000262178.2	-	4	459	c.274A>G	c.(274-276)Aac>Gac	p.N92D	VIPR2_ENST00000402066.1_Missense_Mutation_p.N233D	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	92					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTACAGTTTTTGCTTATG	0.512																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(274-276)Aac>Gac		Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.							208	172	184					7																	158896531		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158896531T>C	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.274A>G	7.37:g.158896531T>C	ENSP00000262178:p.Asn92Asp					VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	p.N92D	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	3	460	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	92					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.274A>G	CCDS5950.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.24|17.24	3.339525|3.339525	0.60963|0.60963	.|.	.|.	ENSG00000106018|ENSG00000106018	ENST00000418475|ENST00000262178;ENST00000402066	.|T;T	.|0.66099	.|-0.19;-0.19	5.0|5.0	5.0|5.0	0.66597|0.66597	.|GPCR, family 2, extracellular hormone receptor domain (3);	.|0.000000	.|0.56097	.|D	.|0.000037	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.70108|0.70108	2.13|2.13	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.67725	.|0.953	T|T	0.75825|0.75825	-0.3181|-0.3181	5|9	.|.	.|.	.|.	.|.	11.3876|11.3876	0.49796|0.49796	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|92	.|P41587	.|VIPR2_HUMAN	R|D	87|92;233	.|ENSP00000262178:N92D;ENSP00000384497:N233D	.|.	K|N	-|-	2|1	0|0	VIPR2|VIPR2	158589292|158589292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.462000|0.462000	0.32619|0.32619	4.545000|4.545000	0.60698|0.60698	1.990000|1.990000	0.58119|0.58119	0.460000|0.460000	0.39030|0.39030	AAA|AAC		0.512	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		C	158896531	T	C	158896531	3	2	96	1	0	0	0	0	1	0	0	0	17167	1841	64	4	1082	4	VIPR2	7	158896531	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	1525755	158896531	242132	107	6476											
KIAA1429	25962	broad.mit.edu	37	chr8	95521969	95521969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atattcaacacactgttggcGaataacactgtctccaggag	13	10	8	10	1	2	0	1	0	1	0	3	2	2	1	1	2	2	1	1	2	4	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:95521969G>A	ENST00000297591.5	-	15	3901	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	KIAA1429_ENST00000523405.1_5'Flank|KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1276C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1276					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACTGTTGGCGAATAACACTG	0.373																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3826-3828)Cgc>Tgc		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							94	93	93					8																	95521969		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95521969G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3826C>T	8.37:g.95521969G>A	ENSP00000297591:p.Arg1276Cys					KIAA1429_uc010maz.2_Non-coding_Transcript	p.R1276C	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		14	3897	-	Breast(36;3.29e-05)		1276					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3826C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399161	0.42512	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.74106	-0.76;-0.81	5.49	5.49	0.81192	.	0.154187	0.64402	D	0.000018	T	0.56077	0.1961	N	0.08118	0	0.52501	D	0.999952	D	0.54772	0.968	B	0.36719	0.231	T	0.67669	-0.5611	10	0.66056	D	0.02	-2.1753	19.3585	0.94424	0.0:0.0:1.0:0.0	.	1276	Q69YN4	VIR_HUMAN	C	1276	ENSP00000297591:R1276C;ENSP00000395600:R1276C	ENSP00000297591:R1276C	R	-	1	0	KIAA1429	95591145	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.030000	0.88816	2.579000	0.87056	0.462000	0.41574	CGC		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		A	95521969	G	A	95521969	3	1	96	1	0	0	0	0	1	0	0	0	8231	1058	37	2	1652	2	KIAA1429	8	95521969	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		95521969	50842053	108	6477											
TG	7038	broad.mit.edu	37	chr8	133880437	133880437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaagcaagcagactacGtgccccagtgtgcagaggat	11	8	12	10	1	1	3	0	1	1	2	1	4	1	4	2	1	5	3	2	1	3	2	rs371271403		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:133880437G>A	ENST00000220616.4	+	2	185	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	TG_ENST00000377869.1_Missense_Mutation_p.V49M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	49	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGACTACGTGCCCCAGTG	0.532																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(145-147)Gtg>Atg		Homo sapiens thyroglobulin (TG), mRNA.		G	MET/VAL	0,4406		0,0,2203	114	96	102		145	1	0	8		102	2,8598	2.2+/-6.3	0,2,4298	no	missense	TG	NM_003235.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	49/2769	133880437	2,13004	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880437G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.145G>A	8.37:g.133880437G>A	ENSP00000220616:p.Val49Met						p.V49M	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	186	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	49			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.145G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763367	0.49574	0.0	2.33E-4	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66460	-0.21;-0.21	5.38	1.04	0.20106	Thyroglobulin type-1 (6);	0.353827	0.23813	N	0.044307	T	0.80226	0.4584	M	0.84683	2.71	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70978	-0.4725	10	0.62326	D	0.03	.	10.6584	0.45688	0.3109:0.0:0.6891:0.0	.	49	P01266	THYG_HUMAN	M	49	ENSP00000367100:V49M;ENSP00000220616:V49M	ENSP00000220616:V49M	V	+	1	0	TG	133949619	0.088000	0.21588	0.004000	0.12327	0.788000	0.44548	0.872000	0.28037	0.268000	0.21939	0.462000	0.41574	GTG		0.532	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133880437	G	A	133880437	3	1	96	1	0	0	0	0	1	0	0	0	15810	1145	40	1	151	1	TG	8	133880437	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	38358468	133880437	12483585	109	6478											
ZNF623	9831	broad.mit.edu	37	chr8	144732159	144732159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacgtcagacagactcacGgtgatggagctcccctctcc	9	7	10	15	3	3	3	2	1	1	2	5	5	4	4	3	2	1	1	3	2	0	0	rs201671001		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:144732159G>A	ENST00000501748.2	+	1	206	c.117G>A	c.(115-117)acG>acA	p.T39T	ZNF623_ENST00000458270.2_De_novo_Start_InFrame|ZNF623_ENST00000526926.1_De_novo_Start_InFrame	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T39T(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACTCACGGTGATGGAGC	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		19893	0		0	False		,,,				2504	0					uc003yzd.2																			1	Substitution - coding silent(1)	p.T39T(2)	endometrium(1)	endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(115-117)acG>acA		Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.							85	80	82					8																	144732159		2203	4300	6503	SO:0001819	synonymous_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732159G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.117G>A	8.37:g.144732159G>A						ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	p.T39T	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		0	206	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		39					A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	c.117G>A	CCDS34957.1																																																																																				0.522	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		A	144732159	G	A	144732159	2	1	96	1	0	0	0	0	0	0	0	1	18044	1103	39	2		2	ZNF623	8	144732159	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10851722	144732159	1631863	110	6479											
KIAA2026	158358	broad.mit.edu	37	chr9	5988438	5988438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcaagcctgccaaacttCgcggtgttgaccgacgcctt	7	11	10	13	4	1	1	1	1	0	0	2	2	1	1	4	1	3	1	4	1	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:5988438C>T	ENST00000399933.3	-	2	700	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R234Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	234								p.R234Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGCCAAACTTCGCGGTGTTGA	0.423																																						uc003zjq.4																			1	Substitution - Missense(1)	p.R234Q(1)	upper_aerodigestive_tract(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(700-702)cGa>cAa		Homo sapiens KIAA2026 (KIAA2026), mRNA.							120	116	117					9																	5988438		1915	4110	6025	SO:0001583	missense	158358							g.chr9:5988438C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.701G>A	9.37:g.5988438C>T	ENSP00000382815:p.Arg234Gln						p.R234Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	917	-		Acute lymphoblastic leukemia(23;0.158)	234					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.701G>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.014731	0.93404	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.64	4.64	0.57946	.	0.000000	0.43579	U	0.000557	T	0.70020	0.3176	L	0.44542	1.39	0.36502	D	0.869074	D	0.89917	1.0	D	0.77004	0.989	T	0.77056	-0.2729	9	0.62326	D	0.03	.	17.9175	0.88955	0.0:1.0:0.0:0.0	.	234	Q5HYC2	K2026_HUMAN	Q	234	.	ENSP00000370870:R234Q	R	-	2	0	KIAA2026	5978438	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.524000	0.73791	2.304000	0.77564	0.479000	0.44913	CGA		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		T	5988438	C	T	5988438	3	4	96	1	0	0	0	0	1	0	0	0	8270	884	31	2	5638	2	KIAA2026	9	5988438	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		5988438	135224993	111	6480											
ACER2	340485	broad.mit.edu	37	chr9	19423911	19423911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctgcatgtgcttgtttCgtcagtatgcaacatgcttc	7	15	8	11	1	2	0	1	0	1	0	4	0	2	0	1	0	5	6	1	0	2	4	rs145427232		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:19423911C>T	ENST00000340967.2	+	2	186	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	ACER2_ENST00000380376.1_Missense_Mutation_p.R5C	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	54					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.R54C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						GTGCTTGTTTCGTCAGTATGC	0.398																																						uc003zny.1																			1	Substitution - Missense(1)	p.R54C(2)	skin(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						c.(160-162)Cgt>Tgt		Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.							253	217	229					9																	19423911		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19423911C>T	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"Alkaline ceramidase"	23675	protein-coding gene	gene with protein product		613492	"N-acylsphingosine amidohydrolase 3-like"	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.160C>T	9.37:g.19423911C>T	ENSP00000342609:p.Arg54Cys					ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Missense_Mutation_p.R5C	p.R54C	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN			1	318	+			54					A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.160C>T	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749895	0.89753	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.46451	0.94;0.87	5.53	5.53	0.82687	.	0.054048	0.64402	D	0.000001	T	0.62563	0.2438	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.63088	-0.6715	9	.	.	.	.	13.7853	0.63105	0.0:0.9242:0.0:0.0758	.	54	Q5QJU3	ACER2_HUMAN	C	5;54	ENSP00000369735:R5C;ENSP00000342609:R54C	.	R	+	1	0	ACER2	19413911	1.000000	0.71417	0.971000	0.41717	0.928000	0.56348	3.901000	0.56303	2.619000	0.88677	0.579000	0.79373	CGT		0.398	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		T	19423911	C	T	19423911	3	4	96	1	0	0	0	0	1	0	0	0	139	884	31	2	166	2	ACER2	9	19423911	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	13435473	19423911	121789520	112	6481											
CCIN	881	broad.mit.edu	37	chr9	36169599	36169599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggacatggccctgagtGtggacaaccacgtcttcttt	8	11	11	11	1	2	1	0	1	2	0	2	3	2	3	2	3	1	0	2	3	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:36169599G>A	ENST00000335119.2	+	1	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502																																						uc003zzb.4																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(100-102)Gtg>Atg		Homo sapiens calicin (CCIN), mRNA.							164	154	157					9																	36169599		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169599G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.100G>A	9.37:g.36169599G>A	ENSP00000334996:p.Val34Met						p.V34M	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		0	211	+			34			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.100G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977645	0.53720	.	.	ENSG00000185972	ENST00000335119	T	0.77750	-1.12	5.69	5.69	0.88448	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.50627	D	0.000116	D	0.90508	0.7026	M	0.92367	3.3	0.36717	D	0.880964	D	0.67145	0.996	D	0.81914	0.995	D	0.94029	0.7299	10	0.87932	D	0	.	15.3016	0.73955	0.0:0.0:1.0:0.0	.	34	Q13939	CALI_HUMAN	M	34	ENSP00000334996:V34M	ENSP00000334996:V34M	V	+	1	0	CCIN	36159599	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.496000	0.66918	2.690000	0.91761	0.561000	0.74099	GTG		0.502	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		A	36169599	G	A	36169599	3	1	96	1	0	0	0	0	1	0	0	0	2878	1377	48	3	102	3	CCIN	9	36169599	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16745688	36169599	105043832	113	6482											
KIAA1529	100499483	broad.mit.edu	37	chr9	100126341	100126341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcccacagcttcacacCgcaccccaagcccaacaaaa	13	6	4	18	1	1	0	1	0	0	0	2	0	2	0	5	0	3	2	5	0	4	2	rs202030409		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:100126341C>T	ENST00000357054.1	+	41	4813	c.3878C>T	c.(3877-3879)cCg>cTg	p.P1293L	CCDC180_ENST00000529487.1_Missense_Mutation_p.P1348L|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.P1348L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1293						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGCTTCACACCGCACCCCAAG	0.592																																						uc011lut.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						c.(4459-4461)cCg>cTg		Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.		C	LEU/PRO	0,4406		0,0,2203	88	74	79		4043	2.9	0.3	9		79	2,8598	2.2+/-6.3	0,2,4298	no	missense	C9orf174	NM_020893.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1348/1702	100126341	2,13004	2203	4300	6503	SO:0001583	missense	57653					integral to membrane		g.chr9:100126341C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3878C>T	9.37:g.100126341C>T	ENSP00000349562:p.Pro1293Leu					C9orf174_uc004axe.2_Missense_Mutation_p.P1293L|C9orf174_uc011lus.2_Intron|C9orf174_uc004axg.2_Missense_Mutation_p.P1348L|C9orf174_uc004axh.2_Non-coding_Transcript	p.P1487L	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN			42	5466	+			1293					Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4460C>T		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755207	0.31046	0.0	2.33E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08008	3.14;3.18;3.18	4.72	2.87	0.33458	.	0.488362	0.17894	N	0.158431	T	0.02848	0.0085	N	0.03608	-0.345	0.20196	N	0.99993	B;B	0.18166	0.005;0.026	B;B	0.01281	0.0;0.0	T	0.45804	-0.9236	10	0.11485	T	0.65	-14.4939	5.801	0.18414	0.1037:0.2031:0.6932:0.0	.	1487;1293	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1293;1348;1348	ENSP00000349562:P1293L;ENSP00000364348:P1348L;ENSP00000434727:P1348L	ENSP00000349562:P1293L	P	+	2	0	C9orf174	99166162	0.026000	0.19158	0.277000	0.24703	0.010000	0.07245	1.286000	0.33273	1.310000	0.45006	-0.133000	0.14855	CCG		0.592	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		T	100126341	C	T	100126341	3	4	96	1	0	0	0	0	1	0	0	0	8240	652	23	2	3996	2	KIAA1529	9	100126341	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	63956742	100126341	41087090	114	6483											
SVEP1	79987	broad.mit.edu	37	chr9	113228166	113228166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatgcagaaatgttcaCggctcctcttttcacagttg	9	13	7	12	1	3	1	2	0	1	1	5	1	5	1	2	1	1	4	2	1	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:113228166C>T	ENST00000401783.2	-	18	3637	c.3301G>A	c.(3301-3303)Gtg>Atg	p.V1101M	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1078M|SVEP1_ENST00000302728.8_Missense_Mutation_p.V1101M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1101					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAATGTTCACGGCTCCTCTT	0.438																																						uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3301-3303)Gtg>Atg		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							63	56	58					9																	113228166		1861	4088	5949	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113228166C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3301G>A	9.37:g.113228166C>T	ENSP00000384917:p.Val1101Met					SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	p.V1101M	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			17	3638	-			1101					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3301G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041385	0.75732	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15834	2.39;2.39;2.39	5.72	4.83	0.62350	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.059316	0.64402	D	0.000002	T	0.36220	0.0959	M	0.66939	2.045	0.37630	D	0.92162	P;D	0.64830	0.906;0.994	B;P	0.60415	0.286;0.874	T	0.36866	-0.9730	10	0.48119	T	0.1	.	14.8249	0.70104	0.0:0.9311:0.0:0.0689	.	1101;1101	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	M	1101;1078;1101	ENSP00000384917:V1101M;ENSP00000363593:V1078M;ENSP00000304118:V1101M	ENSP00000304118:V1101M	V	-	1	0	SVEP1	112267987	0.708000	0.27876	0.791000	0.31998	0.952000	0.60782	1.387000	0.34430	1.411000	0.46957	0.655000	0.94253	GTG		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113228166	C	T	113228166	3	4	96	1	0	0	0	0	1	0	0	0	15417	536	19	1	7538	1	SVEP1	9	113228166	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	13101825	113228166	27985265	115	6484											
COL27A1	85301	broad.mit.edu	37	chr9	116994128	116994128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagcgtgggggagccCggactgaaaggtgataaggt	10	6	19	6	2	0	2	0	2	0	0	0	4	0	4	1	6	2	1	1	6	2	1	rs144760825		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:116994128C>T	ENST00000356083.3	+	16	2938	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	849	Collagen-like 4.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGGGAGCCCGGACTGAAAG	0.577																																						uc011lxl.2																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2545-2547)ccC>ccT		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.		C		0,4406		0,0,2203	270	240	250		2547	2.5	1	9	dbSNP_134	250	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	COL27A1	NM_032888.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		849/1861	116994128	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116994128C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2547C>T	9.37:g.116994128C>T						COL27A1_uc004bii.3_Non-coding_Transcript	p.P849P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			15	2547	+			849			Collagen-like 4.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2547C>T	CCDS6802.1																																																																																				0.577	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116994128	C	T	116994128	2	4	96	1	0	0	0	0	0	0	0	1	3685	639	23	2		2	COL27A1	9	116994128	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	3765962	116994128	24219303	116	6485											
DAB2IP	153090	broad.mit.edu	37	chr9	124528842	124528842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagtcgcggccgcccGgacatcagtgagcggctcat	7	6	14	14	5	2	1	2	1	0	0	3	2	2	2	2	3	3	3	2	3	0	0	rs372045771		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:124528842G>A	ENST00000408936.3	+	9	1712	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	DAB2IP_ENST00000309989.1_Silent_p.P386P|DAB2IP_ENST00000259371.2_Silent_p.P482P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	510	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGGCCGCCCGGACATCAGTG	0.617																																						uc004bln.3																			0		p.A481T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1444-1446)ccG>ccA		Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.		G	,	3,4403	6.2+/-15.9	0,3,2200	84	72	76		1446,1158	-9.2	0.1	9		76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	482/1133,386/1066	124528842	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528842G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1530G>A	9.37:g.124528842G>A						DAB2IP_uc004blo.3_Silent_p.P386P|DAB2IP_uc004blp.3_5'Flank	p.P482P	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			8	1515	+			510	I -> T (in Ref. 1; AAM00371).		Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.1446G>A																																																																																					0.617	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		A	124528842	G	A	124528842	2	1	96	1	0	0	0	0	0	0	0	1	4219	1103	39	2		2	DAB2IP	9	124528842	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7534714	124528842	16684589	117	6486											
RC3H2	54542	broad.mit.edu	37	chr9	125617558	125617558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgggaagatctggaaatcGcaccccattttgagatgatg	12	10	11	8	2	1	3	0	2	1	2	2	6	1	5	2	2	1	1	2	2	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125617558G>A	ENST00000373670.1	-	14	3320	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	RC3H2_ENST00000357244.2_Missense_Mutation_p.A907V|RC3H2_ENST00000423239.2_Missense_Mutation_p.A907V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	907					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTGGAAATCGCACCCCATTT	0.443																																						uc010mwc.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2719-2721)gCg>gTg		Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.							138	132	134					9																	125617558		1921	4127	6048	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125617558G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2720C>T	9.37:g.125617558G>A	ENSP00000362774:p.Ala907Val					RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.A907V|RC3H2_uc004bne.4_Missense_Mutation_p.A907V	p.A907V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			14	2961	-			907					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2720C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161078	0.78226	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000398671	T;T;T	0.59638	0.25;0.25;0.3	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.49778	1.585	0.80722	D	1	P;D	0.54772	0.947;0.968	B;B	0.40741	0.183;0.339	T	0.58132	-0.7690	10	0.87932	D	0	-25.4718	12.6947	0.56997	0.0:0.0:0.8351:0.1649	.	907;907	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	V	907;907;778;907;42	ENSP00000362774:A907V;ENSP00000349783:A907V;ENSP00000411767:A907V	ENSP00000349783:A907V	A	-	2	0	RC3H2	124657379	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.959000	0.93110	1.250000	0.43966	0.655000	0.94253	GCG		0.443	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		A	125617558	G	A	125617558	3	1	96	1	0	0	0	0	1	0	0	0	13167	1087	38	1	961	1	RC3H2	9	125617558	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1088716	125617558	15595873	118	6487											
STRBP	55342	broad.mit.edu	37	chr9	125922701	125922701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacaaatcacgcagaatgCggaggacaattacacatgat	16	7	9	9	2	1	2	1	1	0	1	1	4	1	4	0	2	3	2	0	2	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125922701C>T	ENST00000348403.5	-	8	1097	c.668G>A	c.(667-669)cGc>cAc	p.R223H	STRBP_ENST00000360998.3_Missense_Mutation_p.R209H|STRBP_ENST00000447404.2_Missense_Mutation_p.R223H	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	223	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACGCAGAATGCGGAGGACAAT	0.393																																						uc004bns.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(667-669)cGc>cAc		Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.							104	93	97					9																	125922701		2203	4300	6503	SO:0001583	missense	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125922701C>T	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.668G>A	9.37:g.125922701C>T	ENSP00000321347:p.Arg223His					STRBP_uc004bnt.3_Missense_Mutation_p.R41H|STRBP_uc004bnu.3_Missense_Mutation_p.R209H|STRBP_uc004bnv.3_Missense_Mutation_p.R223H	p.R223H	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN			7	1110	-			223			DZF.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.668G>A	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264048	0.95399	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	DZF (2);	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87781	0.2612	10	0.87932	D	0	-5.5677	20.0693	0.97712	0.0:1.0:0.0:0.0	.	223	Q96SI9	STRBP_HUMAN	H	223;223;209	ENSP00000415968:R223H;ENSP00000321347:R223H;ENSP00000354271:R209H	ENSP00000321347:R223H	R	-	2	0	STRBP	124962522	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	6.095000	0.71439	2.758000	0.94735	0.563000	0.77884	CGC		0.393	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			T	125922701	C	T	125922701	3	4	96	1	0	0	0	0	1	0	0	0	15326	768	27	1	1398	1	STRBP	9	125922701	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	305143	125922701	15290730	119	6488											
NTNG2	84628	broad.mit.edu	37	chr9	135073844	135073844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacaacctctacacGcggctggagagcgccaaggg	12	4	13	12	3	1	1	0	0	1	1	1	3	1	2	2	4	4	1	2	4	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:135073844G>A	ENST00000393229.3	+	3	1481	c.705G>A	c.(703-705)acG>acA	p.T235T	NTNG2_ENST00000393228.4_Silent_p.T235T|NTNG2_ENST00000360670.3_Silent_p.T235T|NTNG2_ENST00000372179.3_Silent_p.T235T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	235	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTCTACACGCGGCTGGAGA	0.677																																						uc004cbh.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(703-705)acG>acA		Homo sapiens netrin G2 (NTNG2), mRNA.							55	57	56					9																	135073844		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073844G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.705G>A	9.37:g.135073844G>A							p.T235T	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	2	1481	+			235			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.705G>A	CCDS6946.1																																																																																				0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		A	135073844	G	A	135073844	2	1	96	1	0	0	0	0	0	0	0	1	10705	1074	38	1		1	NTNG2	9	135073844	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	9151143	135073844	6139587	120	6489											
SEC16A	9919	broad.mit.edu	37	chr9	139350207	139350207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgccaggacactgctgCgggagggctccatcctgatg	7	7	16	11	1	0	1	0	1	0	0	2	4	2	4	3	4	3	2	3	4	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:139350207C>T	ENST00000371706.3	-	18	5202	c.5169G>A	c.(5167-5169)ccG>ccA	p.P1723P	SEC16A_ENST00000431893.2_Silent_p.P1723P|SEC16A_ENST00000290037.6_Silent_p.P1723P|SEC16A_ENST00000313050.7_Silent_p.P1901P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1723					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACACTGCTGCGGGAGGGCTC	0.667																																						uc004chx.3																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5701-5703)ccG>ccA		Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.							21	27	25					9																	139350207		2111	4215	6326	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139350207C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5169G>A	9.37:g.139350207C>T						SEC16A_uc004chs.3_5'Flank|SEC16A_uc004cht.3_5'Flank|SEC16A_uc004chu.3_Silent_p.P86P|SEC16A_uc004chv.4_Silent_p.P1291P|SEC16A_uc004chw.3_Silent_p.P1901P|SEC16A_uc010nbn.3_Silent_p.P1901P	p.P1901P	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	19	6012	-		Myeloproliferative disorder(178;0.0511)	1723			Pro-rich.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.5703G>A																																																																																					0.667	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		T	139350207	C	T	139350207	2	4	96	1	0	0	0	0	0	0	0	1	13986	755	27	1		1	SEC16A	9	139350207	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	4276363	139350207	1863224	121	6490											
SLC34A3	142680	broad.mit.edu	37	chr9	140128881	140128881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacagacttccccttcccGctgggctggctcggcggcta	4	8	11	18	3	0	1	0	0	0	1	3	1	2	1	4	4	0	4	4	4	1	3	rs550877277	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140128881G>A	ENST00000538474.1	+	11	1331	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	SLC34A3_ENST00000361134.2_Silent_p.P369P	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	369					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCCTTCCCGCTGGGCTGGC	0.716													G|||	3	0.000599042	0	0.0014	5008	,	,		11252	0		0	False		,,,				2504	0.002					uc022bqf.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1105-1107)ccG>ccA		Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.							9	12	11					9																	140128881		2141	4227	6368	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128881G>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1107G>A	9.37:g.140128881G>A						SLC34A3_uc011met.2_Silent_p.P369P|SLC34A3_uc004cmf.1_Silent_p.P369P	p.P369P	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	10	1328	+	all_cancers(76;0.0926)		369					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1107G>A	CCDS7038.1																																																																																				0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		A	140128881	G	A	140128881	2	1	96	1	0	0	0	0	0	0	0	1	14569	1074	38	1		1	SLC34A3	9	140128881	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	778674	140128881	1084550	122	6491											
PNPLA7	375775	broad.mit.edu	37	chr9	140356687	140356687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgtcgatgggggggcGcaggtactcgcagtagtcac	7	8	17	9	3	1	0	1	0	0	0	3	1	1	0	0	4	2	6	0	4	3	3	rs188270302		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140356687G>A	ENST00000277531.4	-	30	3700	c.3514C>T	c.(3514-3516)Cgc>Tgc	p.R1172C	NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R778C|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R1197C|NSMF_ENST00000371472.2_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1172					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATGGGGGGGCGCAGGTACTCG	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		15491	0		0	False		,,,				2504	0					uc010ncj.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3589-3591)Cgc>Tgc		Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	49	47	48		3589,3514	3.4	1	9		48	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1197/1343,1172/1318	140356687	1,13001	2203	4298	6501	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356687G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3514C>T	9.37:g.140356687G>A	ENSP00000277531:p.Arg1172Cys					PNPLA7_uc004cnd.1_Missense_Mutation_p.R419C|PNPLA7_uc004cne.1_Missense_Mutation_p.R438C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R580C|PNPLA7_uc004cnf.2_Missense_Mutation_p.R1172C|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	p.R1197C	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	30	3926	-	all_cancers(76;0.126)		1172					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3589C>T	CCDS7045.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.57	2.873903	0.51695	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	4.36	3.42	0.39159	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.92970	3.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.993;0.997	D	0.91128	0.4935	10	0.87932	D	0	-26.6387	12.4006	0.55410	0.0:0.0:0.8244:0.1756	.	580;1197;1172;419	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	778;580;1172;1197;1172;1163	ENSP00000360512:R778C;ENSP00000360501:R580C;ENSP00000277531:R1172C;ENSP00000384610:R1197C;ENSP00000400582:R1163C	ENSP00000277531:R1172C	R	-	1	0	PNPLA7	139476508	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	4.210000	0.58500	0.886000	0.36113	0.561000	0.74099	CGC		0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140356687	G	A	140356687	3	1	96	1	0	0	0	0	1	0	0	0	12170	1087	38	1	459	1	PNPLA7	9	140356687	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	227806	140356687	856744	123	6492											
PNPLA7	375775	broad.mit.edu	37	chr9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggatgccgcactccGccaaggccttgagaacgccc	9	4	11	17	3	0	1	0	1	0	1	1	3	1	2	6	2	2	1	6	2	2	1	rs538892595		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													G|||	1	0.000199681	0	0	5008	,	,		18130	0		0	False		,,,				2504	0.001					uc010ncj.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2917-2919)gCg>gTg		Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.							87	72	77					9																	140361890		2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361890G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2843C>T	9.37:g.140361890G>A	ENSP00000277531:p.Ala948Val					PNPLA7_uc004cnd.1_Missense_Mutation_p.A214V|PNPLA7_uc004cne.1_Missense_Mutation_p.A214V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A356V|PNPLA7_uc004cnf.2_Missense_Mutation_p.A948V	p.A973V	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	25	3255	-	all_cancers(76;0.126)		948			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2918C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	PNPLA7	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140361890	G	A	140361890	3	1	96	1	0	0	0	0	1	0	0	0	12170	1087	38	1	1150	1	PNPLA7	9	140361890	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5203	140361890	851541	124	6493											
MYO3A	53904	broad.mit.edu	37	chr10	26243811	26243811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaactaggatattgaCgaagagattgaagcagaata	17	11	10	3	1	0	5	0	3	0	2	0	8	0	6	0	1	2	1	0	1	7	7	rs139958275	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:26243811C>T	ENST00000265944.5	+	4	343	c.177C>T	c.(175-177)gaC>gaT	p.D59D	MYO3A_ENST00000376302.1_Silent_p.D59D|MYO3A_ENST00000376301.1_Silent_p.D59D|MYO3A_ENST00000543632.1_Silent_p.D59D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATATTGACGAAGAGATTG	0.313													c|||	4	0.000798722	0	0.0014	5008	,	,		18816	0		0.001	False		,,,				2504	0.002					uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(175-177)gaC>gaT		Homo sapiens myosin IIIA (MYO3A), mRNA.		T		0,4406		0,0,2203	98	102	101		177	1	1	10	dbSNP_134	101	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	MYO3A	NM_017433.4		0,17,6486	TT,TC,CC		0.1977,0.0,0.1307		59/1617	26243811	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26243811C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.177C>T	10.37:g.26243811C>T						MYO3A_uc009xko.1_Silent_p.D59D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.D59D|MYO3A_uc001ism.2_Silent_p.D59D	p.D59D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			3	537	+			59			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.177C>T	CCDS7148.1																																																																																				0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26243811	C	T	26243811	2	4	96	1	0	0	0	0	0	0	0	1	10076	535	19	1		1	MYO3A	10	26243811	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		26243811	109290936	125	6494											
HNRNPH3	3189	broad.mit.edu	37	chr10	70097039	70097039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgggacagtacgacttCgtggactaccatttggttgc	8	12	13	8	2	0	1	0	1	0	0	1	4	0	3	1	3	3	2	1	3	2	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:70097039C>T	ENST00000265866.7	+	2	226	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.R21C|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.R21C	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AGTACGACTTCGTGGACTACC	0.338																																						uc001jnw.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(61-63)Cgt>Tgt		Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA.							199	182	188					10																	70097039		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70097039C>T		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.61C>T	10.37:g.70097039C>T	ENSP00000265866:p.Arg21Cys					HNRNPH3_uc001jnx.4_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.3_5'UTR|HNRNPH3_uc010qiv.2_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.4_5'Flank	p.R21C	NM_012207	NP_036339	P31942	HNRH3_HUMAN			1	290	+			21			RRM 1.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.61C>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944364	0.34283	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.34472	2.91;1.36;2.91	5.88	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.89968	3.075	0.47659	D	0.999481	B;B;B	0.18013	0.003;0.025;0.018	B;B;B	0.15052	0.002;0.007;0.012	T	0.54873	-0.8228	10	0.87932	D	0	.	14.8684	0.70434	0.0:0.9312:0.0:0.0688	.	21;21;21	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	C	21	ENSP00000265866:R21C;ENSP00000409869:R21C;ENSP00000346726:R21C	ENSP00000265866:R21C	R	+	1	0	HNRNPH3	69767045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.267000	0.51577	1.494000	0.48533	0.585000	0.79938	CGT		0.338	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			T	70097039	C	T	70097039	3	4	96	1	0	0	0	0	1	0	0	0	7268	884	31	2	63	2	HNRNPH3	10	70097039	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	43853228	70097039	65437708	126	6495											
RGR	5995	broad.mit.edu	37	chr10	86008738	86008738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagggctttgtgacagcGttggccagcatctgcagcag	7	10	13	11	1	1	1	0	1	1	0	2	1	2	1	2	2	4	5	2	2	0	3	rs373030585		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:86008738G>A	ENST00000372092.3	+	3	264	c.259G>A	c.(259-261)Gtt>Att	p.V87I	RGR_ENST00000358110.5_Silent_p.A99A|RGR_ENST00000359452.4_Silent_p.A103A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A103A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdd.1																			1	Substitution - coding silent(1)	p.A103A(2)	ovary(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(307-309)gcG>gcA		Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.		G	,,	2,4404	4.2+/-10.8	0,2,2201	65	59	61		297,297,309	-8.4	0	10		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	99/292,99/254,103/296	86008738	2,13004	2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86008738G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.259G>A	10.37:g.86008738G>A	ENSP00000361164:p.Val87Ile					RGR_uc001kdb.1_Missense_Mutation_p.V87I|RGR_uc001kdc.1_Silent_p.A99A|RGR_uc001kde.1_Silent_p.A99A	p.A103A	NM_002921	NP_002912	P47804	RGR_HUMAN			2	347	+			99					A6NKK7|Q96FC5	Silent	SNP	ENST00000372092.3	37	c.309G>A		.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443074	0.04604	4.54E-4	0.0	ENSG00000148604	ENST00000372092	.	.	.	4.22	-8.44	0.00950	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.19300	N	0.99998	B	0.18166	0.026	B	0.06405	0.002	T	0.27054	-1.0085	7	0.87932	D	0	.	5.9322	0.19144	0.5623:0.0703:0.0746:0.2928	.	87	Q96HT6	.	I	87	.	ENSP00000361164:V87I	V	+	1	0	RGR	85998718	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-6.174000	0.00077	-3.672000	0.00123	-0.895000	0.02911	GTT		0.637	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921		A	86008738	G	A	86008738	3	1	96	1	0	0	0	0	1	0	0	0	13291	1132	40	1	319	1	RGR	10	86008738	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	15911699	86008738	49526009	127	6496											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							155	133	141					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717672	C	T	89717672	4	4	96	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3708934	89717672	45817075	128	6497											
PLCE1	51196	broad.mit.edu	37	chr10	95995711	95995711	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaagataatttcttacaaCgagtgggacaaaatggctta	16	10	9	6	1	1	1	0	0	1	1	1	4	1	2	0	2	2	1	0	2	7	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:95995711C>T	ENST00000371380.3	+	6	2489	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.R752*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.R444*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.R444*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	752	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCTTACAACGAGTGGGACA	0.408																																						uc001kjk.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2254-2256)Cga>Tga		Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.							100	96	97					10																	95995711		1853	4110	5963	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95995711C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2254C>T	10.37:g.95995711C>T	ENSP00000360431:p.Arg752*					PLCE1_uc010qnx.2_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.3_Nonsense_Mutation_p.R444*	p.R752*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			6	2888	+		Colorectal(252;0.0458)	752			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.2254C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	46	12.416272	0.99665	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	.	.	.	X	752;752;444;444	.	ENSP00000260766:R752X	R	+	1	2	PLCE1	95985701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.350000	0.52224	2.521000	0.84997	0.655000	0.94253	CGA		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	95995711	C	T	95995711	4	4	96	1	0	0	0	0	0	1	0	0	12034	528	19	1	2562	1	PLCE1	10	95995711	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6278039	95995711	39539036	129	6498											
SORCS1	114815	broad.mit.edu	37	chr10	108923845	108923845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgggtggctttgtccGggtcccgctcccgagtccca	4	8	15	14	4	0	0	0	0	0	0	4	2	4	1	4	4	1	2	4	4	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:108923845G>T	ENST00000263054.6	-	1	447	c.440C>A	c.(439-441)cCg>cAg	p.P147Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.P147Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	147					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGCTTTGTCCGGGTCCCGCTC	0.652																																						uc001kyl.3																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(439-441)cCg>cAg		Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.							48	48	48					10																	108923845		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923845G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.440C>A	10.37:g.108923845G>T	ENSP00000263054:p.Pro147Gln					SORCS1_uc021pxw.1_Missense_Mutation_p.P147Q|SORCS1_uc009xxs.3_Missense_Mutation_p.P147Q|SORCS1_uc001kym.3_Missense_Mutation_p.P147Q|SORCS1_uc001kyn.2_Missense_Mutation_p.P147Q|SORCS1_uc001kyo.3_Missense_Mutation_p.P147Q	p.P147Q	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	0	622	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	147					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.440C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857474	0.32791	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.13196	2.61;2.62	3.95	3.05	0.35203	.	0.440700	0.21322	N	0.076447	T	0.06280	0.0162	N	0.08118	0	0.29485	N	0.856059	B;B;B;B;B	0.30709	0.085;0.291;0.291;0.192;0.138	B;B;B;B;B	0.28849	0.03;0.095;0.095;0.044;0.066	T	0.28267	-1.0049	9	.	.	.	-7.995	9.4059	0.38462	0.1036:0.0:0.8964:0.0	.	147;147;147;147;147	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	147	ENSP00000263054:P147Q;ENSP00000345964:P147Q	.	P	-	2	0	SORCS1	108913835	0.827000	0.29292	1.000000	0.80357	0.997000	0.91878	0.275000	0.18698	1.244000	0.43870	0.655000	0.94253	CCG		0.652	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108923845	G	T	108923845	3	4	96	1	0	0	0	0	1	0	0	0	14930	1116	39	5	3404	5	SORCS1	10	108923845	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	12928134	108923845	26610902	130	6499											
SEC23IP	11196	broad.mit.edu	37	chr10	121663608	121663608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagttcagccagatcCggagagcgtggttcttggca	7	12	12	10	2	3	2	1	0	2	2	5	3	4	2	2	3	2	3	2	3	1	5	rs147722288		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:121663608C>T	ENST00000369075.3	+	4	992	c.920C>T	c.(919-921)cCg>cTg	p.P307L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.P96L	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	307	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAGCCAGATCCGGAGAGCGTG	0.488													C|||	1	0.000199681	0	0	5008	,	,		19985	0		0.001	False		,,,				2504	0					uc001leu.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(919-921)cCg>cTg		Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.		C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	100	93	95		920	5.3	1	10	dbSNP_134	95	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SEC23IP	NM_007190.3	98	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging	307/1001	121663608	7,12999	2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663608C>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.920C>T	10.37:g.121663608C>T	ENSP00000358071:p.Pro307Leu					SEC23IP_uc010qtc.2_Missense_Mutation_p.P96L	p.P307L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	3	1130	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	307			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.920C>T	CCDS7618.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.95	2.984394	0.53934	4.54E-4	5.81E-4	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.44482	1.34;1.42;0.92	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	M	0.72479	2.2	0.80722	D	1	B;B	0.32893	0.389;0.134	B;B	0.24974	0.057;0.016	T	0.44034	-0.9354	10	0.41790	T	0.15	-17.496	19.3947	0.94603	0.0:1.0:0.0:0.0	.	96;307	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	L	307;96;41	ENSP00000358071:P307L;ENSP00000438773:P96L;ENSP00000396906:P41L	ENSP00000358071:P307L	P	+	2	0	SEC23IP	121653598	1.000000	0.71417	0.959000	0.39883	0.896000	0.52359	7.285000	0.78660	2.644000	0.89710	0.563000	0.77884	CCG		0.488	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			T	121663608	C	T	121663608	3	4	96	1	0	0	0	0	1	0	0	0	13993	652	23	2	934	2	SEC23IP	10	121663608	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	12739763	121663608	13871139	131	6500											
CPXM2	119587	broad.mit.edu	37	chr10	125506288	125506288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggagggtcacccacGctgtcgtctcttctgccccc	4	8	11	18	2	3	0	1	0	2	0	5	1	3	1	4	3	1	1	4	3	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125506288G>A	ENST00000241305.3	-	14	2417	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	755					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTCACCCACGCTGTCGTCTC	0.577																																						uc001lhk.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(2263-2265)Cgt>Tgt		Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.							49	53	52					10																	125506288		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506288G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2263C>T	10.37:g.125506288G>A	ENSP00000241305:p.Arg755Cys					CPXM2_uc001lhj.3_Intron	p.R755C	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	13	2588	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	755					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2263C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338264	0.60963	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96587	-4.06	5.32	4.4	0.53042	.	1.063870	0.07384	N	0.887999	D	0.96074	0.8721	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	D	0.92788	0.6246	10	0.87932	D	0	-26.1143	12.039	0.53442	0.0802:0.0:0.9198:0.0	.	755	Q8N436	CPXM2_HUMAN	C	755;588;730	ENSP00000241305:R755C	ENSP00000241305:R755C	R	-	1	0	CPXM2	125496278	1.000000	0.71417	0.994000	0.49952	0.872000	0.50106	4.078000	0.57606	2.643000	0.89663	0.655000	0.94253	CGT		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125506288	G	A	125506288	3	1	96	1	0	0	0	0	1	0	0	0	3838	1087	38	1	11	1	CPXM2	10	125506288	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3842680	125506288	10028459	132	6501											
CPXM2	119587	broad.mit.edu	37	chr10	125622179	125622179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccatagcgcttcaccGtggaggcatggagctggaag	9	6	15	11	2	1	0	1	0	0	0	1	3	1	3	3	5	2	3	3	5	2	2	rs146535848	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125622179G>A	ENST00000241305.3	-	3	618	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	155	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCGCTTCACCGTGGAGGCATG	0.507													G|||	2	0.000399361	0.0015	0	5008	,	,		20246	0		0	False		,,,				2504	0					uc001lhk.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(463-465)aCg>aTg		Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103	87	93		464	5.6	0.9	10	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CPXM2	NM_198148.2	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	155/757	125622179	3,13003	2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125622179G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.464C>T	10.37:g.125622179G>A	ENSP00000241305:p.Thr155Met					CPXM2_uc001lhj.3_Non-coding_Transcript	p.T155M	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	2	789	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	155			F5/8 type C.		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.464C>T	CCDS7637.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.3	4.512326	0.85389	2.27E-4	2.33E-4	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.97529	-4.42	5.56	5.56	0.83823	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.056982	0.64402	D	0.000002	D	0.98541	0.9513	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99568	1.0970	10	0.87932	D	0	-7.8883	18.309	0.90192	0.0:0.0:1.0:0.0	.	155	Q8N436	CPXM2_HUMAN	M	155	ENSP00000241305:T155M	ENSP00000241305:T155M	T	-	2	0	CPXM2	125612169	1.000000	0.71417	0.936000	0.37596	0.989000	0.77384	6.723000	0.74742	2.620000	0.88729	0.655000	0.94253	ACG		0.507	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125622179	G	A	125622179	3	1	96	1	0	0	0	0	1	0	0	0	3838	1145	40	1	1854	1	CPXM2	10	125622179	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	115891	125622179	9912568	133	6502											
MRGPRE	116534	broad.mit.edu	37	chr11	3249728	3249728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcagaagaagcgcagcGttgccaggctggtctgcacg	9	7	15	10	3	1	2	0	0	1	2	1	2	1	2	1	2	5	6	1	2	3	2	rs372934659		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:3249728G>A	ENST00000389832.5	-	2	608	c.302C>T	c.(301-303)aCg>aTg	p.T101M	MRGPRE_ENST00000436689.2_Missense_Mutation_p.T100M|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T100M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCGCAGCGTTGCCAGGCT	0.662																																						uc021qcj.1																			1	Substitution - Missense(1)	p.T100M(2)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(298-300)aCg>aTg		Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.		G	MET/THR	2,4364		0,2,2181	39	50	46		299	1.5	0	11		46	0,8552		0,0,4276	no	missense	MRGPRE	NM_001039165.2	81	0,2,6457	AA,AG,GG		0.0,0.0458,0.0155	benign	100/312	3249728	2,12916	2183	4276	6459	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249728G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.302C>T	11.37:g.3249728G>A	ENSP00000374482:p.Thr101Met					MRGPRE_uc001lxq.4_Missense_Mutation_p.T100M	p.T100M	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	299	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	100					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	g	9.712	1.157292	0.21454	4.58E-4	0.0	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.62	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	1.254590	0.05970	N	0.642291	T	0.10852	0.0265	N	0.01188	-0.97	0.09310	N	1	B	0.31209	0.313	B	0.28916	0.096	T	0.20371	-1.0277	9	0.30078	T	0.28	-3.6331	5.2432	0.15483	0.1218:0.0:0.6779:0.2003	.	100	Q86SM8	MRGRE_HUMAN	M	101;100	.	ENSP00000374482:T100M	T	-	2	0	MRGPRE	3206304	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.468000	0.22051	0.675000	0.31264	0.585000	0.79938	ACG		0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		A	3249728	G	A	3249728	3	1	96	1	0	0	0	0	1	0	0	0	9764	1145	40	1	640	1	MRGPRE	11	3249728	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		3249728	131756788	134	6503											
SOX6	55553	broad.mit.edu	37	chr11	16036504	16036504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccctctgcatcttctggCcgagtaaggtcgatgacacc	8	10	9	14	2	4	1	1	1	3	0	5	3	4	1	3	2	1	2	3	2	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16036504C>T	ENST00000352083.6	-	13	1793	c.1716G>A	c.(1714-1716)cgG>cgA	p.R572R	SOX6_ENST00000316399.6_Silent_p.R572R|SOX6_ENST00000396356.3_Silent_p.R572R|SOX6_ENST00000528252.1_Silent_p.R545R|SOX6_ENST00000528429.1_Silent_p.R572R|SOX6_ENST00000527619.1_Silent_p.R548R			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	572					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CATCTTCTGGCCGAGTAAGGT	0.463																																						uc001mme.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1753-1755)cgG>cgA		Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.							84	81	82					11																	16036504		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16036504C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1716G>A	11.37:g.16036504C>T						SOX6_uc001mmd.3_Silent_p.R548R|SOX6_uc001mmf.3_Silent_p.R545R|SOX6_uc001mmg.3_Silent_p.R572R	p.R585R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			12	1788	-			572					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1755G>A																																																																																					0.463	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		T	16036504	C	T	16036504	2	4	96	1	0	0	0	0	0	0	0	1	14955	726	26	3		3	SOX6	11	16036504	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	12786776	16036504	118970012	135	6504											
PLEKHA7	144100	broad.mit.edu	37	chr11	16847767	16847767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggtcctgggaggaaaggCccgctggtacccaccagtcc	7	7	14	13	1	0	0	0	0	0	0	2	2	2	2	5	5	1	3	5	5	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16847767C>T	ENST00000355661.3	-	10	1253	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A415T|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A415T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	415					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGAGGAAAGGCCCGCTGGTAC	0.592																																						uc010rcu.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1243-1245)Gcc>Acc		Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.							132	136	135					11																	16847767		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16847767C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1243G>A	11.37:g.16847767C>T	ENSP00000347883:p.Ala415Thr					PLEKHA7_uc001mmo.3_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A123T	p.A415T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			9	1258	-			415					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1243G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773900	0.31411	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06687	3.27;3.27;3.27	5.25	1.32	0.21799	.	0.447853	0.27100	N	0.020927	T	0.02156	0.0067	N	0.01352	-0.895	0.25434	N	0.988153	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.001;0.003	T	0.47368	-0.9123	10	0.05436	T	0.98	-5.5629	9.262	0.37619	0.0:0.7065:0.0:0.2935	.	415;415;415	E9PKC0;Q6IQ23;Q6IQ23-2	.;PKHA7_HUMAN;.	T	415	ENSP00000435389:A415T;ENSP00000347883:A415T;ENSP00000416895:A415T	ENSP00000347883:A415T	A	-	1	0	PLEKHA7	16804343	0.927000	0.31430	0.988000	0.46212	0.980000	0.70556	1.085000	0.30840	0.090000	0.17273	-0.258000	0.10820	GCC		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16847767	C	T	16847767	3	4	96	1	0	0	0	0	1	0	0	0	12061	739	26	3	2178	3	PLEKHA7	11	16847767	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	811263	16847767	118158749	136	6505											
NELL1	4745	broad.mit.edu	37	chr11	20959373	20959373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttcttgcagaaggccagCggattttaaccaagagctgt	12	10	11	8	1	1	2	0	0	1	2	1	3	1	3	2	2	4	3	2	2	4	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:20959373C>T	ENST00000357134.5	+	10	1191	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	NELL1_ENST00000532434.1_Missense_Mutation_p.R347W|NELL1_ENST00000325319.5_Missense_Mutation_p.R290W|NELL1_ENST00000298925.5_Missense_Mutation_p.R375W	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	347					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAGGCCAGCGGATTTTAAC	0.408																																						uc009yid.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1123-1125)Cgg>Tgg		Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.							108	105	106					11																	20959373		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20959373C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1039C>T	11.37:g.20959373C>T	ENSP00000349654:p.Arg347Trp					NELL1_uc010rdp.2_Missense_Mutation_p.R107W|NELL1_uc001mqe.3_Missense_Mutation_p.R347W|NELL1_uc001mqf.3_Missense_Mutation_p.R347W|NELL1_uc010rdo.2_Missense_Mutation_p.R290W	p.R375W	NM_006157	NP_006148	Q92832	NELL1_HUMAN			10	1276	+			347			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1123C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523294	0.64747	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.18	0.754	0.18410	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.73962	2.25	0.46609	D	0.999125	D;D;B;D	0.89917	0.997;1.0;0.127;1.0	P;D;B;D	0.79784	0.897;0.988;0.049;0.993	T	0.78122	-0.2327	10	0.37606	T	0.19	-14.675	15.272	0.73708	0.6213:0.3787:0.0:0.0	.	290;375;347;347	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	W	375;347;290;347	ENSP00000298925:R375W;ENSP00000349654:R347W;ENSP00000317837:R290W;ENSP00000437170:R347W	ENSP00000298925:R375W	R	+	1	2	NELL1	20915949	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	0.262000	0.18460	0.162000	0.19483	-0.314000	0.08810	CGG		0.408	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	20959373	C	T	20959373	3	4	96	1	0	0	0	0	1	0	0	0	10333	759	27	1	1077	1	NELL1	11	20959373	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4111606	20959373	114047143	137	6506											
GYLTL1B	120071	broad.mit.edu	37	chr11	45950278	45950278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccagccccacctatcGtgactgcctccaggccctca	6	7	7	21	2	1	1	1	1	0	0	4	1	3	1	8	1	2	1	8	1	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:45950278G>A	ENST00000531526.1	+	14	2159	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R683H|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R652H|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R683H|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R652H	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	683					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCACCTATCGTGACTGCCTC	0.637																																						uc001nbv.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(2047-2049)cGt>cAt		Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.							84	75	78					11																	45950278		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950278G>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2048G>A	11.37:g.45950278G>A	ENSP00000432869:p.Arg683His					GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H	p.R683H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	13	2159	+			683					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.2048G>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469079	0.96274	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.53206	0.64;0.63;0.63;0.63;0.64	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.98	D;D;P	0.91635	0.999;0.931;0.679	T	0.78964	-0.1996	10	0.87932	D	0	-14.6208	19.6939	0.96016	0.0:0.0:1.0:0.0	.	652;652;683	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	H	652;683;683;683;652	ENSP00000431932:R652H;ENSP00000432869:R683H;ENSP00000385235:R683H;ENSP00000324570:R683H;ENSP00000445044:R652H	ENSP00000324570:R683H	R	+	2	0	GYLTL1B	45906854	1.000000	0.71417	0.581000	0.28614	0.974000	0.67602	9.466000	0.97665	2.643000	0.89663	0.655000	0.94253	CGT		0.637	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		A	45950278	G	A	45950278	3	1	96	1	0	0	0	0	1	0	0	0	6907	1145	40	1	2098	1	GYLTL1B	11	45950278	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	24990905	45950278	89056238	138	6507											
CHRM4	1132	broad.mit.edu	37	chr11	46406690	46406690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcagtgccgatgttcCgatactggcacagcagcagg	9	7	13	12	2	0	0	0	0	0	0	1	2	1	0	3	3	4	5	3	3	1	2	rs201159443		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:46406690C>T	ENST00000433765.2	-	1	1417	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	473					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCGATGTTCCGATACTGGCA	0.602													c|||	1	0.000199681	0	0.0014	5008	,	,		22413	0		0	False		,,,				2504	0				Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			0		p.R473R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1417-1419)cGg>cAg		Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						70	75	73					11																	46406690		2201	4299	6500	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46406690C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1418G>A	11.37:g.46406690C>T	ENSP00000409378:p.Arg473Gln						p.R473Q	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	0	1418	-			473					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1418G>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	c	15.54	2.863033	0.51482	.	.	ENSG00000180720	ENST00000433765	T	0.37584	1.19	4.58	3.65	0.41850	.	.	.	.	.	T	0.21186	0.0510	L	0.31371	0.925	0.31336	N	0.684244	P	0.36944	0.574	B	0.23018	0.043	T	0.20840	-1.0263	9	0.59425	D	0.04	-0.2104	7.7459	0.28869	0.1634:0.7548:0.0:0.0818	.	473	P08173	ACM4_HUMAN	Q	473	ENSP00000409378:R473Q	ENSP00000409378:R473Q	R	-	2	0	CHRM4	46363266	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	2.201000	0.42734	1.136000	0.42199	0.457000	0.33378	CGG		0.602	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		T	46406690	C	T	46406690	3	4	96	1	0	0	0	0	1	0	0	0	3379	652	23	2	25	2	CHRM4	11	46406690	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	456412	46406690	88599826	139	6508											
P2RX3	5024	broad.mit.edu	37	chr11	57137380	57137380	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagactacgctgaaaatCgcggctttgaccaacccagt	13	8	9	11	3	0	3	0	3	0	1	1	4	0	3	2	1	2	2	2	1	5	2	rs377490584	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:57137380C>A	ENST00000263314.2	+	12	1138	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	368					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.I368M(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547																																						uc001nju.3																			1	Substitution - Missense(1)	p.I368M(2)	lung(1)	endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(1102-1104)atC>atA		Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.							109	90	96					11																	57137380		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57137380C>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1104C>A	11.37:g.57137380C>A							p.I368I	NM_002559	NP_002550	P56373	P2RX3_HUMAN			11	1288	+			368					Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.1104C>A	CCDS7953.1																																																																																				0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57137380	C	A	57137380	2	1	96	1	0	0	0	0	0	0	0	1	11341	874	31	5		5	P2RX3	11	57137380	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	10730690	57137380	77869136	140	6509											
RASGRP2	10235	broad.mit.edu	37	chr11	64496457	64496457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcacactctgggccctgCgccgacactcaactgacagg	8	6	11	16	2	3	1	2	1	1	0	3	2	3	1	2	3	2	1	2	3	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:64496457C>T	ENST00000354024.3	-	15	1901	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	RASGRP2_ENST00000377497.3_Missense_Mutation_p.R550H|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R550H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.R550H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	550					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCTGCGCCGACACTC	0.637																																						uc009ypu.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1648-1650)cGc>cAc		Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.							67	50	56					11																	64496457		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64496457C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1649G>A	11.37:g.64496457C>T	ENSP00000338864:p.Arg550His					RASGRP2_uc001oat.3_Missense_Mutation_p.R452H|RASGRP2_uc001oau.3_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.3_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.3_Missense_Mutation_p.R550H	p.R550H	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN			14	1876	-			550					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1649G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634750	0.67130	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	4.17	4.17	0.49024	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.086607	0.47455	D	0.000239	D	0.92538	0.7630	L	0.46819	1.47	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62491	0.903;0.903	D	0.92270	0.5824	10	0.87932	D	0	-0.258	8.5795	0.33619	0.0:0.8914:0.0:0.1086	.	550;550	Q7LDG7;A6NDC7	GRP2_HUMAN;.	H	550	ENSP00000366714:R550H;ENSP00000377953:R550H;ENSP00000366717:R550H;ENSP00000338864:R550H	ENSP00000338864:R550H	R	-	2	0	RASGRP2	64253033	0.998000	0.40836	1.000000	0.80357	0.560000	0.35617	2.662000	0.46766	2.260000	0.74910	0.655000	0.94253	CGC		0.637	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		T	64496457	C	T	64496457	3	4	96	1	0	0	0	0	1	0	0	0	13075	768	27	1	188	1	RASGRP2	11	64496457	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7359077	64496457	70510059	141	6510											
INPPL1	3636	broad.mit.edu	37	chr11	71942122	71942123	+	Frame_Shift_Ins	INS	-	-	C																															acgaggtcacagtgaccataINSccccatgacatctatgtctt																										TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71942122_71942123insC	ENST00000298229.2	+	12	1590_1591	c.1386_1387insC	c.(1387-1389)cccfs	p.P463fs	INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P221fs|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.P221fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	463					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGACCATACCCCATGACAT	0.579																																						uc001osf.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1384-1389)atacccfs		Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.																																				SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942122_71942123insC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1390dupC	11.37:g.71942126_71942126dupC	ENSP00000298229:p.Pro463fs					INPPL1_uc001osg.3_Frame_Shift_Ins_p.I220fs	p.I462fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN			11	1533_1534	+			462					B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	ENST00000298229.2	37	c.1386_1387insC	CCDS8213.1																																																																																				0.579	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		C	71942123	-	C	71942122	7	5	96	1	0	1	1	0	0	0	0	0	7761	381	14	0	1432	0	INPPL1	11	71942122	Frame_Shift_Ins	INS	-	TCGA-06-5858-01A-01D-1696-08	7445665	71942122	63064394	142	6511											
INPPL1	3636	broad.mit.edu	37	chr11	71943788	71943788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggggacctcaactacCgcctggacatggatatccag	9	9	12	11	1	1	0	1	0	0	0	2	3	2	3	4	5	2	1	4	5	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71943788C>T	ENST00000298229.2	+	15	2035	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	INPPL1_ENST00000538751.1_Missense_Mutation_p.R369C|INPPL1_ENST00000541756.1_Missense_Mutation_p.R369C	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	611					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTCAACTACCGCCTGGACAT	0.612																																						uc001osf.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1831-1833)Cgc>Tgc		Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.							81	79	80					11																	71943788		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943788C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1831C>T	11.37:g.71943788C>T	ENSP00000298229:p.Arg611Cys					INPPL1_uc001osg.3_Missense_Mutation_p.R369C	p.R611C	NM_001567	NP_001558	O15357	SHIP2_HUMAN			14	1978	+			611					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1831C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.168309	0.78339	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.96774	-4.12;-4.12;-4.12	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98850	1.0758	10	0.87932	D	0	.	17.0485	0.86511	0.0:1.0:0.0:0.0	.	611	O15357	SHIP2_HUMAN	C	611;369;369	ENSP00000298229:R611C;ENSP00000446360:R369C;ENSP00000444619:R369C	ENSP00000298229:R611C	R	+	1	0	INPPL1	71621436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.590000	0.46154	2.703000	0.92315	0.561000	0.74099	CGC		0.612	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		T	71943788	C	T	71943788	3	4	96	1	0	0	0	0	1	0	0	0	7761	652	23	2	1889	2	INPPL1	11	71943788	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1666	71943788	63062728	143	6512											
ATG16L2	89849	broad.mit.edu	37	chr11	72528883	72528883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggaggggctcCggctggtctgtggtgaggta	7	7	22	5	1	1	1	0	1	1	0	2	5	2	5	1	10	0	3	1	10	1	1	rs532590002		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:72528883C>T	ENST00000321297.5	+	3	439	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ATG16L2_ENST00000534905.1_Missense_Mutation_p.R101W	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	101					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGAGGGGCTCCGGCTGGTCTG	0.577													C|||	1	0.000199681	0	0	5008	,	,		18181	0.001		0	False		,,,				2504	0					uc001otd.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(301-303)Cgg>Tgg		Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.							58	52	54					11																	72528883		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528883C>T	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.301C>T	11.37:g.72528883C>T	ENSP00000326340:p.Arg101Trp					ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_Missense_Mutation_p.R101W	p.R101W	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		2	341	+			101					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.301C>T	CCDS31634.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566110	0.65651	.	.	ENSG00000168010	ENST00000321297;ENST00000534905	D;T	0.83419	-1.72;0.89	3.91	1.75	0.24633	Autophagy-related protein 16 (1);	.	.	.	.	D	0.85906	0.5806	L	0.54323	1.7	0.24828	N	0.992549	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	P;P;P;D	0.67103	0.761;0.556;0.901;0.949	T	0.73827	-0.3860	9	0.66056	D	0.02	.	6.2499	0.20839	0.3:0.5161:0.1839:0.0	.	101;101;101;100	B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.;.;A16L2_HUMAN;.	W	101	ENSP00000326340:R101W;ENSP00000441189:R101W	ENSP00000326340:R101W	R	+	1	2	ATG16L2	72206531	0.898000	0.30612	0.995000	0.50966	0.977000	0.68977	1.069000	0.30641	0.463000	0.27118	0.491000	0.48974	CGG		0.577	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		T	72528883	C	T	72528883	3	4	96	1	0	0	0	0	1	0	0	0	1092	643	23	2	311	2	ATG16L2	11	72528883	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	585095	72528883	62477633	144	6513											
RNF26	79102	broad.mit.edu	37	chr11	119206097	119206097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgtgtactctgctgtatAgctgctgctctggcctagag	5	14	11	11	0	2	1	0	0	2	1	2	1	2	1	2	1	5	6	2	1	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:119206097A>G	ENST00000311413.4	+	1	861	c.265A>G	c.(265-267)Agc>Ggc	p.S89G	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	89						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCTGTATAGCTGCTGCTC	0.607																																						uc001pwh.3																			0				cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(265-267)Agc>Ggc		Homo sapiens ring finger protein 26 (RNF26), mRNA.							139	130	133					11																	119206097		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206097A>G	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.265A>G	11.37:g.119206097A>G	ENSP00000312439:p.Ser89Gly						p.S89G	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	0	888	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	89			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.265A>G	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	A	4.612	0.113754	0.08831	.	.	ENSG00000173456	ENST00000311413	T	0.32753	1.44	5.25	4.13	0.48395	.	0.150139	0.47455	D	0.000229	T	0.13927	0.0337	N	0.16790	0.44	0.34361	D	0.690936	B	0.14012	0.009	B	0.10450	0.005	T	0.18335	-1.0340	10	0.06891	T	0.86	-4.1691	5.8406	0.18630	0.8156:0.0:0.1844:0.0	.	89	Q9BY78	RNF26_HUMAN	G	89	ENSP00000312439:S89G	ENSP00000312439:S89G	S	+	1	0	RNF26	118711307	0.191000	0.23288	0.862000	0.33874	0.976000	0.68499	1.396000	0.34531	1.994000	0.58287	0.533000	0.62120	AGC		0.607	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		G	119206097	A	G	119206097	3	3	96	1	0	0	0	0	1	0	0	0	13486	420	15	4	267	4	RNF26	11	119206097	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	46677214	119206097	15800419	145	6514											
TMEM136	219902	broad.mit.edu	37	chr11	120201174	120201174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcttggagaagcaggCggagtgaggaacggcagctg	11	5	17	8	2	0	2	0	1	0	1	0	5	0	4	1	5	4	4	1	5	2	1	rs369584063		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:120201174C>T	ENST00000375095.2	+	3	929	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	TMEM136_ENST00000529187.1_Missense_Mutation_p.R133W|TMEM136_ENST00000314475.2_Missense_Mutation_p.R252W|TMEM136_ENST00000531346.1_3'UTR	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	230						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GAGAAGCAGGCGGAGTGAGGA	0.493																																						uc001pxj.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(754-756)Cgg>Tgg		Homo sapiens transmembrane protein 136 (TMEM136), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	171	140	150		397,385,331,385,385,688,754	-2.7	0.5	11		150	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TMEM136	NM_174926.2,NM_001198675.1,NM_001198674.1,NM_001198673.1,NM_001198672.1,NM_001198671.1,NM_001198670.1	101,101,101,101,101,101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	133/149,129/145,111/127,129/145,129/145,230/246,252/268	120201174	1,13003	2203	4299	6502	SO:0001583	missense	219902					integral to membrane		g.chr11:120201174C>T	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.688C>T	11.37:g.120201174C>T	ENSP00000364236:p.Arg230Trp					TMEM136_uc001pxg.3_Missense_Mutation_p.R133W|TMEM136_uc010rzm.2_Missense_Mutation_p.R111W|TMEM136_uc021qrl.1_Missense_Mutation_p.R129W|TMEM136_uc001pxh.2_Missense_Mutation_p.R230W|TMEM136_uc009zas.2_Missense_Mutation_p.R129W|TMEM136_uc001pxi.2_Missense_Mutation_p.R129W	p.R252W	NM_001198670	NP_001185599	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	2	1248	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	230					B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	c.754C>T	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840869	0.71488	2.27E-4	0.0	ENSG00000181264	ENST00000375095;ENST00000314475;ENST00000529187	.	.	.	5.91	-2.74	0.05932	.	0.946674	0.08965	N	0.868126	T	0.28665	0.0710	L	0.43152	1.355	0.09310	N	0.999999	B;B;B;B	0.13594	0.002;0.008;0.001;0.002	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.28073	-1.0055	9	0.35671	T	0.21	-32.6991	4.7233	0.12929	0.3333:0.2968:0.0:0.37	.	111;252;230;133	Q6ZRR5-2;Q6ZRR5-3;Q6ZRR5;Q6ZRR5-4	.;.;TM136_HUMAN;.	W	230;252;133	.	ENSP00000312672:R252W	R	+	1	2	TMEM136	119706384	0.053000	0.20554	0.490000	0.27465	0.979000	0.70002	-0.575000	0.05861	-0.117000	0.11872	-0.150000	0.13652	CGG		0.493	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		T	120201174	C	T	120201174	3	4	96	1	0	0	0	0	1	0	0	0	16049	759	27	1	407	1	TMEM136	11	120201174	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	995077	120201174	14805342	146	6515											
FOXRED1	55572	broad.mit.edu	37	chr11	126143242	126143242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacaggagtacctggcCgtagtcgatgctcctcccct	7	9	10	15	2	0	0	0	0	0	0	3	2	2	1	5	2	3	4	5	2	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:126143242C>T	ENST00000263578.5	+	4	503	c.429C>T	c.(427-429)gcC>gcT	p.A143A	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Silent_p.A129A	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	143						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTACCTGGCCGTAGTCGATG	0.557																																						uc001qdi.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(427-429)gcC>gcT		Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							86	93	91					11																	126143242		2201	4298	6499	SO:0001819	synonymous_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126143242C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.429C>T	11.37:g.126143242C>T						FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.R12C|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Silent_p.A129A|FOXRED1_uc001qdk.3_5'UTR	p.A143A	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	3	596	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	143					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	37	c.429C>T	CCDS8471.1																																																																																				0.557	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		T	126143242	C	T	126143242	2	4	96	1	0	0	0	0	0	0	0	1	6033	639	23	2		2	FOXRED1	11	126143242	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	5942068	126143242	8863274	147	6516											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343095	130343095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgggcatttcgtggtgtcGgcggtggagcgggacctggt	5	9	19	8	5	0	0	0	0	0	0	2	2	0	2	1	7	2	1	1	7	1	1	rs544957547		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:130343095G>A	ENST00000299164.2	+	8	2232	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	744	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCGTGGTGTCGGCGGTGGAGC	0.642													G|||	1	0.000199681	0	0	5008	,	,		16494	0.001		0	False		,,,				2504	0					uc010scd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2230-2232)tcG>tcA		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.							67	63	64					11																	130343095		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343095G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2232G>A	11.37:g.130343095G>A							p.S744S	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	2232	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	744			Spacer.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.2232G>A	CCDS8488.1																																																																																				0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		A	130343095	G	A	130343095	2	1	96	1	0	0	0	0	0	0	0	1	260	1103	39	2		2	ADAMTS15	11	130343095	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	4199853	130343095	4663421	148	6517											
WBP11	51729	broad.mit.edu	37	chr12	14946750	14946750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccatctgatttgtcGgtgtcactgtcatcagtact	6	17	7	11	1	5	1	3	1	2	0	7	1	5	1	1	1	1	1	1	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:14946750G>A	ENST00000261167.2	-	8	1061	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	276	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGATTTGTCGGTGTCACTGT	0.433																																						uc001rci.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(826-828)acC>acT		Homo sapiens WW domain binding protein 11 (WBP11), mRNA.							323	274	291					12																	14946750		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946750G>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.828C>T	12.37:g.14946750G>A							p.T276T	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			7	989	-			276			Asp-rich.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.828C>T	CCDS8666.1																																																																																				0.433	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		A	14946750	G	A	14946750	2	1	96	1	0	0	0	0	0	0	0	1	17255	1103	39	2		2	WBP11	12	14946750	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08		14946750	118905145	149	6518											
TXNRD1	7296	broad.mit.edu	37	chr12	104714974	104714974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggtattggtttagaCgtcactgttatggttaggtc	6	17	12	6	1	1	1	1	0	0	1	2	1	1	1	0	4	1	5	0	4	4	7	rs201777096	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:104714974C>T	ENST00000529546.1	+	7	756	c.531C>T	c.(529-531)gaC>gaT	p.D177D	TXNRD1_ENST00000354940.6_Silent_p.D215D|TXNRD1_ENST00000526950.1_Silent_p.D284D|TXNRD1_ENST00000525566.1_Silent_p.D365D|TXNRD1_ENST00000540716.1_Silent_p.D177D|TXNRD1_ENST00000524698.1_Silent_p.D215D|TXNRD1_ENST00000378070.4_Silent_p.D314D|TXNRD1_ENST00000388854.3_Silent_p.D267D|TXNRD1_ENST00000542918.1_Silent_p.D265D|TXNRD1_ENST00000503506.2_Silent_p.D215D|TXNRD1_ENST00000429002.2_Silent_p.D365D|TXNRD1_ENST00000526691.1_Silent_p.D267D|TXNRD1_ENST00000397736.2_Silent_p.D259D|TXNRD1_ENST00000526390.1_Silent_p.D259D|TXNRD1_ENST00000427956.1_Silent_p.D330D			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	365					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TTGGTTTAGACGTCACTGTTA	0.448													C|||	2	0.000399361	0	0	5008	,	,		18475	0		0	False		,,,				2504	0.002				Ovarian(139;555 1836 9186 9946 10884)	uc021rcx.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1093-1095)gaC>gaT		Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.							309	285	292					12																	104714974		1965	4156	6121	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104714974C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.531C>T	12.37:g.104714974C>T						TXNRD1_uc021rcy.1_Silent_p.D267D|TXNRD1_uc021rcz.1_Silent_p.D215D|TXNRD1_uc021rda.1_Silent_p.D215D|TXNRD1_uc021rdb.1_Silent_p.D215D|TXNRD1_uc010swp.2_Silent_p.D177D|TXNRD1_uc010swq.2_Silent_p.D265D|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.D281D	p.D365D	NM_001093771		Q16881	TRXR1_HUMAN			9	1117	+			365	D -> N (in Ref. 3; AAC69621).	D -> G (in dbSNP:rs1127954).			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.1095C>T	CCDS58274.1																																																																																				0.448	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		T	104714974	C	T	104714974	2	4	96	1	0	0	0	0	0	0	0	1	16804	535	19	1		1	TXNRD1	12	104714974	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	89768224	104714974	29136921	150	6519											
ULK1	8408	broad.mit.edu	37	chr12	132397780	132397780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagtgccaaacccccGccagacagcctgatgtgcag	9	4	11	17	2	0	2	0	1	0	1	0	2	0	2	6	0	4	1	6	0	1	0	rs561387032		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:132397780G>A	ENST00000321867.4	+	14	1485	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	378	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCAAACCCCCGCCAGACAGCC	0.622													G|||	1	0.000199681	0	0	5008	,	,		14257	0		0	False		,,,				2504	0.001					uc001uje.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(1132-1134)ccG>ccA		Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.							79	84	83					12																	132397780		2203	4299	6502	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132397780G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1134G>A	12.37:g.132397780G>A							p.P378P	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	13	1402	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		378			Interaction with GABARAP and GABARAPL2.		Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.1134G>A	CCDS9274.1																																																																																				0.622	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			A	132397780	G	A	132397780	2	1	96	1	0	0	0	0	0	0	0	1	16972	1074	38	1		1	ULK1	12	132397780	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	27682806	132397780	1454115	151	6520											
TPTE2	93492	broad.mit.edu	37	chr13	20067042	20067042	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttaaattcacttgtgtgtgGgctagaggatgataaaagaa	14	13	11	3	0	1	3	1	1	0	2	1	4	1	4	0	2	0	1	0	2	6	6			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:20067042G>A	ENST00000400230.2	-	3	111	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TPTE2_ENST00000382975.4_Splice_Site_p.P23S|TPTE2_ENST00000382978.1_Splice_Site_p.P23S|TPTE2_ENST00000390680.2_Splice_Site_p.P23S|TPTE2_ENST00000400103.2_Splice_Site_p.P23S|TPTE2_ENST00000255310.6_Splice_Site_p.P23S|TPTE2_ENST00000457266.2_Splice_Site_p.P23S|TPTE2_ENST00000382977.4_Splice_Site_p.P23S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	23					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P23S(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGTGTGTGGGCTAGAGGAT	0.353																																						uc001umd.3																			2	Substitution - Missense(2)	p.P23S(2)	lung(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							148	124	132					13																	20067042		2203	4300	6503	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067042G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.66-1C>T	13.37:g.20067042G>A						TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.S22_splice|TPTE2_uc001ume.3_Splice_Site_p.S22_splice|TPTE2_uc009zzm.3_Splice_Site|TPTE2_uc010tcm.2_Splice_Site	p.S22_splice	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	277	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	22					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.66_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156787	0.01686	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.97906	-4.03;-4.6;-3.53;-3.85;-3.85;-3.53;-4.03;-4.6	0.963	-1.93	0.07594	.	0.536026	0.16595	N	0.207567	D	0.93103	0.7804	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14805	0.0;0.009;0.011	B;B;B	0.11329	0.0;0.005;0.006	T	0.77970	-0.2387	9	.	.	.	.	2.4091	0.04420	0.3649:0.0:0.3007:0.3344	.	23;23;23	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	23	ENSP00000372438:P23S;ENSP00000382974:P23S;ENSP00000383089:P23S;ENSP00000255310:P23S;ENSP00000375098:P23S;ENSP00000372437:P23S;ENSP00000372435:P23S;ENSP00000442218:P23S	.	P	-	1	0	TPTE2	18965042	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.586000	0.02110	-2.909000	0.00309	-1.484000	0.00983	CCA		0.353	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	A	20067042	G	A	20067042	5	1	96	1	0	0	0	0	0	0	1	0	16428	1246	43	3	1573	3	TPTE2	13	20067042	Splice_Site	SNP	G	TCGA-06-5858-01A-01D-1696-08		20067042	95102836	152	6521											
PARP4	143	broad.mit.edu	37	chr13	25023906	25023906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaatattcaaatactcCggcaccacactgggacaaaa	18	8	5	10	1	1	0	1	0	0	0	2	1	2	1	2	2	1	1	2	2	7	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:25023906C>T	ENST00000381989.3	-	25	3169	c.3064G>A	c.(3064-3066)Gga>Aga	p.G1022R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1022	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G1022*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAATACTCCGGCACCACAC	0.308																																						uc001upl.3																			1	Substitution - Nonsense(1)	p.G1022*(2)	lung(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3064-3066)Gga>Aga		Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.							67	68	68					13																	25023906		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25023906C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3064G>A	13.37:g.25023906C>T	ENSP00000371419:p.Gly1022Arg						p.G1022R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	24	3170	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1022			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.3064G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115918	0.77323	.	.	ENSG00000102699	ENST00000381989	D	0.82619	-1.63	4.64	4.64	0.57946	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	M	0.86953	2.85	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.93140	0.6540	10	0.87932	D	0	-19.97	15.2274	0.73361	0.0:1.0:0.0:0.0	.	1022	Q9UKK3	PARP4_HUMAN	R	1022	ENSP00000371419:G1022R	ENSP00000371419:G1022R	G	-	1	0	PARP4	23921906	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	5.518000	0.67068	2.460000	0.83146	0.545000	0.68477	GGA		0.308	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25023906	C	T	25023906	3	4	96	1	0	0	0	0	1	0	0	0	11463	661	23	2	2150	2	PARP4	13	25023906	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4956864	25023906	90145972	153	6522											
STARD13	90627	broad.mit.edu	37	chr13	33704214	33704214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgcctccactgctttcGctgtgaatggagcagacctc	6	11	10	14	2	0	2	0	1	0	1	4	3	1	3	3	1	3	4	3	1	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:33704214G>A	ENST00000336934.5	-	5	716	c.600C>T	c.(598-600)agC>agT	p.S200S	STARD13_ENST00000255486.4_Silent_p.S192S|STARD13_ENST00000399365.3_Silent_p.S82S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	200					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACTGCTTTCGCTGTGAATGG	0.627																																						uc001uuw.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(598-600)agC>agT		Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.							40	37	38					13																	33704214		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704214G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.600C>T	13.37:g.33704214G>A						STARD13_uc001uuu.3_Silent_p.S192S|STARD13_uc001uuv.3_Silent_p.S82S|STARD13_uc001uux.3_Silent_p.S165S|STARD13_uc010abh.1_Silent_p.S185S|STARD13_uc021rhz.1_Silent_p.S192S|STARD13_uc021ria.1_Silent_p.S82S	p.S200S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	4	726	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	200					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.600C>T	CCDS9348.1																																																																																				0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		A	33704214	G	A	33704214	2	1	96	1	0	0	0	0	0	0	0	1	15255	1078	38	1		1	STARD13	13	33704214	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	8680308	33704214	81465664	154	6523											
RB1	5925	broad.mit.edu	37	chr13	48947629	48947629	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttcctattttaacGtaagccatatatgaaacatt	14	16	4	7	1	1	2	0	2	1	0	2	2	2	2	2	0	3	1	2	0	6	8			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		38	Unknown(23)|Whole gene deletion(15)	p.?(23)|p.0?(15)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS890133|CS982341	RB1	S		c.e12+1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						80	87	84					13																	48947629		2202	4287	6489	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947629G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>A	13.37:g.48947629G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Splice_Site_p.N106_splice	p.N405_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1381	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	405			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1215_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681750	0.68042	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	A	48947629	G	A	48947629	5	1	96	1	0	0	0	0	0	0	1	0	13098	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-06-5858-01A-01D-1696-08	15243415	48947629	66222249	155	6524											
TGDS	23483	broad.mit.edu	37	chr13	95233375	95233375	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagtaagactgtacaaaAcattcagcagctgctttaga	14	10	7	10	0	1	2	1	0	0	2	2	2	2	2	1	0	5	5	1	0	5	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95233375A>C	ENST00000261296.5	-	6	645	c.525T>G	c.(523-525)tgT>tgG	p.C175W	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	175					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTGTACAAAACATTCAGCAG	0.318																																						uc001vlw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(523-525)tgT>tgG		Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.							75	75	75					13																	95233375		2203	4299	6502	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95233375A>C	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.525T>G	13.37:g.95233375A>C	ENSP00000261296:p.Cys175Trp						p.C175W	NM_014305	NP_055120	O95455	TGDS_HUMAN			5	646	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		175					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.525T>G	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574465	0.65878	.	.	ENSG00000088451	ENST00000261296	D	0.92752	-3.1	5.54	-2.1	0.07210	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.146603	0.64402	D	0.000006	D	0.90590	0.7050	L	0.37630	1.12	0.58432	D	0.999999	D	0.56287	0.975	P	0.57204	0.815	D	0.88303	0.2951	10	0.66056	D	0.02	.	12.3663	0.55230	0.5621:0.0:0.4379:0.0	.	175	O95455	TGDS_HUMAN	W	175	ENSP00000261296:C175W	ENSP00000261296:C175W	C	-	3	2	TGDS	94031376	0.823000	0.29233	0.995000	0.50966	0.998000	0.95712	-0.100000	0.10990	-0.152000	0.11156	0.533000	0.62120	TGT		0.318	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		C	95233375	A	C	95233375	3	2	96	1	0	0	0	0	1	0	0	0	15811	41	2	5	555	5	TGDS	13	95233375	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	46285746	95233375	19936503	156	6525											
ABCC4	10257	broad.mit.edu	37	chr13	95673860	95673860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcgaaaatagttaaggtcGagggctgtccattggaagtg	11	11	13	6	2	1	0	0	0	1	0	4	3	2	1	1	3	0	2	1	3	5	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95673860G>A	ENST00000376887.4	-	31	4061	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	ABCC4_ENST00000412704.1_Missense_Mutation_p.S1269L|RNU6-62P_ENST00000516526.1_RNA	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1316					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AGTTAAGGTCGAGGGCTGTCC	0.383																																						uc001vmd.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3946-3948)tCg>tTg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	Cefazolin(DB01327)						148	131	137					13																	95673860		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95673860G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3947C>T	13.37:g.95673860G>A	ENSP00000366084:p.Ser1316Leu					ABCC4_uc010afj.3_Missense_Mutation_p.S107L|ABCC4_uc010afk.3_Missense_Mutation_p.S1269L	p.S1316L	NM_005845	NP_005836	O15439	MRP4_HUMAN			30	4066	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1316					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3947C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	5.327	0.245718	0.10077	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90732	-2.72;-2.69	5.4	4.53	0.55603	.	0.364173	0.23561	N	0.046856	T	0.80215	0.4582	L	0.36672	1.1	0.19775	N	0.999959	P;P	0.43750	0.583;0.816	B;B	0.27380	0.03;0.079	T	0.75476	-0.3304	10	0.66056	D	0.02	.	5.3101	0.15825	0.0795:0.1397:0.6365:0.1443	.	1269;1316	O15439-2;O15439	.;MRP4_HUMAN	L	1269;1316	ENSP00000388657:S1269L;ENSP00000366084:S1316L	ENSP00000366084:S1316L	S	-	2	0	ABCC4	94471861	0.995000	0.38212	0.790000	0.31976	0.017000	0.09413	3.693000	0.54735	1.338000	0.45544	0.563000	0.77884	TCG		0.383	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		A	95673860	G	A	95673860	3	1	96	1	0	0	0	0	1	0	0	0	55	1059	37	2	34	2	ABCC4	13	95673860	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	440485	95673860	19496018	157	6526											
COL4A2	1284	broad.mit.edu	37	chr13	111088642	111088642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcagccgggacccaaCgggattccatcagacaccct	10	5	12	14	2	1	1	1	0	0	1	2	3	2	3	4	3	2	2	4	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111088642C>T	ENST00000360467.5	+	13	1059	c.753C>T	c.(751-753)aaC>aaT	p.N251N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	251	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGGACCCAACGGGATTCCAT	0.463																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(751-753)aaC>aaT		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							86	91	89					13																	111088642		1932	4134	6066	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111088642C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.753C>T	13.37:g.111088642C>T							p.N251N	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		12	1042	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	251			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.753C>T	CCDS41907.1																																																																																				0.463	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		T	111088642	C	T	111088642	2	4	96	1	0	0	0	0	0	0	0	1	3690	535	19	1		1	COL4A2	13	111088642	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	15414782	111088642	4081236	158	6527											
ING1	3621	broad.mit.edu	37	chr13	111371669	111371669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcactgtgtgcagcgcgCgctgatccgcagccaggagc	6	6	15	14	4	0	1	0	1	0	0	1	2	1	2	2	1	5	5	2	1	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111371669C>T	ENST00000375774.3	+	2	1121	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ING1_ENST00000338450.7_Missense_Mutation_p.A33V|ING1_ENST00000375775.3_Missense_Mutation_p.A8V|ING1_ENST00000333219.7_Missense_Mutation_p.A77V|ING1_ENST00000464141.1_3'UTR	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	220					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCAGCGCGCGCTGATCCGC	0.652																																						uc001vri.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(658-660)gCg>gTg		Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.							43	50	48					13																	111371669		2203	4298	6501	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371669C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.659C>T	13.37:g.111371669C>T	ENSP00000364929:p.Ala220Val					ING1_uc001vrf.3_Missense_Mutation_p.A33V|ING1_uc001vrg.3_Missense_Mutation_p.A8V|ING1_uc001vrh.3_Missense_Mutation_p.A77V|ING1_uc021rmo.1_Missense_Mutation_p.A8V	p.A220V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	1091	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		220					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.659C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252931	0.59212	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T	0.49720	0.77	5.13	5.13	0.70059	Inhibitor of growth protein, N-terminal (1);	0.107189	0.64402	D	0.000006	T	0.68824	0.3043	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.966;0.983	D;P;P	0.72982	0.979;0.667;0.537	T	0.68096	-0.5499	10	0.36615	T	0.2	-39.019	18.5935	0.91223	0.0:1.0:0.0:0.0	.	220;77;33	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	V	33;77;8;220	ENSP00000364929:A220V	ENSP00000328436:A77V	A	+	2	0	ING1	110169670	1.000000	0.71417	0.722000	0.30670	0.245000	0.25701	5.571000	0.67404	2.385000	0.81259	0.484000	0.47621	GCG		0.652	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111371669	C	T	111371669	3	4	96	1	0	0	0	0	1	0	0	0	7735	768	27	1	813	1	ING1	13	111371669	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	283027	111371669	3798209	159	6528											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870210	111870210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccagcaactacgtgcGcgaggtcaaggccagcggta	9	6	13	13	4	1	0	1	0	0	0	2	1	2	0	3	3	5	3	3	3	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111870210G>A	ENST00000375741.2	+	6	966	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R61H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.R61H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R189H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.R61H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R136H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R61H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R218H|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R146H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	239	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AACTACGTGCGCGAGGTCAAG	0.567																																						uc001vrs.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(715-717)cGc>cAc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.							42	41	42					13																	111870210		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870210G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.716G>A	13.37:g.111870210G>A	ENSP00000364893:p.Arg239His					ARHGEF7_uc001vrr.2_Missense_Mutation_p.R218H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R189H|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrw.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrx.4_Missense_Mutation_p.R61H|ARHGEF7_uc010tjo.2_Missense_Mutation_p.R136H	p.R239H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	966	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		239			SH3.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.716G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048468	0.93740	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.82	4.82	0.62117	Src homology-3 domain (4);Variant SH3 (1);	0.066312	0.64402	D	0.000009	T	0.49592	0.1566	L	0.43757	1.38	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79108	0.988;0.927;0.992;0.987	T	0.52518	-0.8565	10	0.87932	D	0	.	18.2835	0.90105	0.0:0.0:1.0:0.0	.	136;189;239;218	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	218;239;189;61;146;216;61;61;61;61;61;136;136;61	ENSP00000325994:R218H;ENSP00000364893:R239H;ENSP00000364891:R189H;ENSP00000406732:R61H;ENSP00000359657:R146H;ENSP00000418067:R61H;ENSP00000218789:R61H;ENSP00000364888:R61H;ENSP00000420592:R61H;ENSP00000397068:R61H;ENSP00000389890:R136H;ENSP00000364889:R136H;ENSP00000364875:R61H	ENSP00000218789:R61H	R	+	2	0	ARHGEF7	110668211	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.464000	0.80887	2.366000	0.80165	0.655000	0.94253	CGC		0.567	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		A	111870210	G	A	111870210	3	1	96	1	0	0	0	0	1	0	0	0	911	1087	38	1	738	1	ARHGEF7	13	111870210	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	498541	111870210	3299668	160	6529											
SDCCAG1	9147	broad.mit.edu	37	chr14	50267402	50267402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatcctcatcactgctcGtgtcacctccatctgtagaa	8	14	5	14	1	4	1	3	0	1	1	7	1	6	1	3	0	1	2	3	0	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:50267402G>A	ENST00000298310.5	-	23	2557	c.2108C>T	c.(2107-2109)aCg>aTg	p.T703M	NEMF_ENST00000545773.1_Missense_Mutation_p.T661M|NEMF_ENST00000546046.1_Missense_Mutation_p.T682M|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	703					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATCACTGCTCGTGTCACCTCC	0.413																																						uc010anj.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2107-2109)aCg>aTg		Homo sapiens nuclear export mediator factor (NEMF), mRNA.							139	128	132					14																	50267402		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50267402G>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2108C>T	14.37:g.50267402G>A	ENSP00000298310:p.Thr703Met					NEMF_uc001wwz.3_5'Flank|NEMF_uc001wxa.3_5'UTR|NEMF_uc001wxc.3_Missense_Mutation_p.T703M|NEMF_uc010tqi.2_Missense_Mutation_p.T682M|NEMF_uc001wxe.2_Missense_Mutation_p.T661M|NEMF_uc001wxd.1_Missense_Mutation_p.T108M	p.T703M	NM_004713	NP_004704	O60524	NEMF_HUMAN			22	2176	-			703					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2108C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287937	0.40494	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.93	4.05	0.47172	.	0.053140	0.64402	D	0.000001	T	0.19208	0.0461	N	0.08118	0	0.80722	D	1	P;P;P;P	0.43633	0.77;0.666;0.813;0.66	B;B;B;B	0.36289	0.169;0.221;0.185;0.118	T	0.03852	-1.0998	10	0.46703	T	0.11	-7.9848	7.156	0.25637	0.0:0.6354:0.2574:0.1072	.	682;678;661;703	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	M	703;661;682;475;661	ENSP00000298310:T703M;ENSP00000438309:T661M;ENSP00000441016:T682M;ENSP00000452540:T661M	ENSP00000298310:T703M	T	-	2	0	NEMF	49337152	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	2.793000	0.47845	1.081000	0.41110	0.460000	0.39030	ACG		0.413	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		A	50267402	G	A	50267402	3	1	96	1	0	0	0	0	1	0	0	0	13957	1145	40	1	1166	1	SDCCAG1	14	50267402	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		50267402	57082138	161	6530											
BMP4	652	broad.mit.edu	37	chr14	54418835	54418835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggccctgaatctcggCgacttttttcttccccgtct	3	14	9	15	5	3	1	0	1	3	0	5	2	4	1	3	2	0	0	3	2	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:54418835C>T	ENST00000245451.4	-	3	499	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	BMP4_ENST00000558984.1_Missense_Mutation_p.A36T|BMP4_ENST00000417573.1_Missense_Mutation_p.A36T|BMP4_ENST00000559087.1_Missense_Mutation_p.A36T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	36					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGAATCTCGGCGACTTTTTTC	0.582																																						uc001xal.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(106-108)Gcc>Acc		Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.							56	60	59					14																	54418835		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418835C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.106G>A	14.37:g.54418835C>T	ENSP00000245451:p.Ala36Thr					BMP4_uc010aoh.3_Missense_Mutation_p.A36T|BMP4_uc001xao.4_Missense_Mutation_p.A36T|BMP4_uc001xan.4_Missense_Mutation_p.A36T	p.A36T	NM_130851	NP_570912	P12644	BMP4_HUMAN			1	293	-			36					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.106G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578484	0.46006	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.72167	-0.63;-0.63	5.2	4.29	0.51040	.	0.572773	0.18889	N	0.128376	T	0.60805	0.2297	L	0.40543	1.245	0.41020	D	0.985072	B	0.10296	0.003	B	0.06405	0.002	T	0.55704	-0.8099	10	0.28530	T	0.3	.	13.3031	0.60336	0.0:0.923:0.0:0.077	.	36	P12644	BMP4_HUMAN	T	36	ENSP00000245451:A36T;ENSP00000394165:A36T	ENSP00000245451:A36T	A	-	1	0	BMP4	53488585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.279000	0.33191	2.717000	0.92951	0.655000	0.94253	GCC		0.582	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		T	54418835	C	T	54418835	3	4	96	1	0	0	0	0	1	0	0	0	1462	768	27	1	1128	1	BMP4	14	54418835	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4151433	54418835	52930705	162	6531											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208866	65208866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgaggggcgcagcccGgcccacctggcccgggagct	5	3	15	18	3	0	1	0	1	0	0	0	2	0	2	5	5	2	2	5	5	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:65208866G>A	ENST00000394691.1	+	16	2778	c.2631G>A	c.(2629-2631)ccG>ccA	p.P877P	PLEKHG3_ENST00000471182.2_Silent_p.P410P|PLEKHG3_ENST00000484731.2_Silent_p.P382P|PLEKHG3_ENST00000247226.7_Silent_p.P821P|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	877							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCGCAGCCCGGCCCACCTGG	0.667																																						uc001xhp.2																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2992-2994)ccG>ccA		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.							19	25	23					14																	65208866		2202	4297	6499	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208866G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2631G>A	14.37:g.65208866G>A						PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xho.1_Silent_p.P877P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	p.P998P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3033	+			877					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.2994G>A																																																																																					0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		A	65208866	G	A	65208866	2	1	96	1	0	0	0	0	0	0	0	1	12070	1103	39	2		2	PLEKHG3	14	65208866	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10790031	65208866	42140674	163	6532											
ADCK1	57143	broad.mit.edu	37	chr14	78390916	78390916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccggcacgggaaaggcGgagattgtcctgttggacca	9	6	14	12	3	0	1	0	0	0	1	1	4	1	3	4	5	0	2	4	5	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:78390916G>A	ENST00000238561.5	+	8	1074	c.975G>A	c.(973-975)gcG>gcA	p.A325A	ADCK1_ENST00000341211.5_Silent_p.A257A|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	332	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CGGGAAAGGCGGAGATTGTCC	0.557																																						uc001xui.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(973-975)gcG>gcA		Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.							84	79	81					14																	78390916		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78390916G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.975G>A	14.37:g.78390916G>A						ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.3_Silent_p.A32A	p.A325A	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	7	1074	+			332			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.975G>A	CCDS9869.1																																																																																				0.557	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		A	78390916	G	A	78390916	2	1	96	1	0	0	0	0	0	0	0	1	288	1103	39	2		2	ADCK1	14	78390916	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	13182050	78390916	28958624	164	6533											
EML5	161436	broad.mit.edu	37	chr14	89160659	89160659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactttcttacctgctttaCgccaaaatttcatgtgttta	9	17	5	10	1	2	0	1	0	1	0	2	0	2	0	2	0	3	3	2	0	5	7	rs370809285		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:89160659C>T	ENST00000380664.5	-	17	2530	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	EML5_ENST00000554922.1_Missense_Mutation_p.R844H|EML5_ENST00000352093.5_Missense_Mutation_p.R844H			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	844						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCTGCTTTACGCCAAAATTT	0.323																																						uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2530-2532)cGt>cAt		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.							92	82	85					14																	89160659		1819	4056	5875	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89160659C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2531G>A	14.37:g.89160659C>T	ENSP00000370039:p.Arg844His					EML5_uc021ryg.1_Missense_Mutation_p.R844H|EML5_uc001xxh.1_Missense_Mutation_p.R21H	p.R844H	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			16	2780	-			844					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2531G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628253	0.46944	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.43688	0.94;2.21;0.98	5.4	4.52	0.55395	Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.125201	0.52532	N	0.000064	T	0.22627	0.0546	N	0.03608	-0.345	0.38938	D	0.95808	B;B	0.13145	0.003;0.007	B;B	0.10450	0.005;0.002	T	0.07065	-1.0792	10	0.45353	T	0.12	-4.6344	13.9496	0.64109	0.0:0.9268:0.0:0.0732	.	844;844	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	H	844	ENSP00000451998:R844H;ENSP00000298315:R844H;ENSP00000370039:R844H	ENSP00000298315:R844H	R	-	2	0	EML5	88230412	0.741000	0.28217	0.985000	0.45067	0.993000	0.82548	1.269000	0.33074	1.528000	0.49103	0.655000	0.94253	CGT		0.323	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89160659	C	T	89160659	3	4	96	1	0	0	0	0	1	0	0	0	5100	536	19	1	3510	1	EML5	14	89160659	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	10769743	89160659	18188881	165	6534											
RIN3	79890	broad.mit.edu	37	chr14	93119291	93119291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctggagatgatggcgCgccagacctccagcacggag	10	4	14	13	3	0	3	0	1	0	2	1	5	1	4	4	3	2	1	4	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:93119291C>T	ENST00000216487.7	+	6	2056	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	633	Interaction with RAB5B.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R633C(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGATGGCGCGCCAGACCTC	0.597																																						uc001yap.3																			1	Substitution - Missense(1)	p.R633C(2)|p.A632V(1)	endometrium(1)	endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1897-1899)Cgc>Tgc		Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.							59	48	52					14																	93119291		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93119291C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1897C>T	14.37:g.93119291C>T	ENSP00000216487:p.Arg633Cys					RIN3_uc010auk.3_Missense_Mutation_p.R295C|RIN3_uc001yaq.3_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	p.R633C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			5	2049	+		all_cancers(154;0.0701)	633			Interaction with RAB5B.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1897C>T	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.52|14.52	2.558983|2.558983	0.45590|0.45590	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	T|T	0.29397|0.30182	1.57|1.54	4.58|4.58	3.6|3.6	0.41247|0.41247	.|.	.|0.218239	.|0.36972	.|N	.|0.002302	T|T	0.26159|0.26159	0.0638|0.0638	N|N	0.04090|0.04090	-0.28|-0.28	0.48452|0.48452	D|D	0.99965|0.99965	.|B;B;B;D	.|0.89917	.|0.417;0.185;0.185;1.0	.|B;B;B;P	.|0.61722	.|0.119;0.006;0.011;0.893	T|T	0.11227|0.11227	-1.0596|-1.0596	6|10	.|0.48119	.|T	.|0.1	-12.8354|-12.8354	9.7361|9.7361	0.40388|0.40388	0.494:0.506:0.0:0.0|0.494:0.506:0.0:0.0	.|.	.|633;679;558;633	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	V|C	149|633;557	ENSP00000450986:A149V|ENSP00000216487:R633C	.|ENSP00000216487:R633C	A|R	+|+	2|1	0|0	RIN3|RIN3	92189044|92189044	0.946000|0.946000	0.32159|0.32159	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	3.565000|3.565000	0.53798|0.53798	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.597	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			T	93119291	C	T	93119291	3	4	96	1	0	0	0	0	1	0	0	0	13373	768	27	1	1919	1	RIN3	14	93119291	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3958632	93119291	14230249	166	6535											
SERPINA5	5104	broad.mit.edu	37	chr14	95058444	95058444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgggaaccagagcagcGgcagccacggggacaatatt	12	4	15	10	3	0	1	0	0	0	1	1	4	0	3	2	4	4	2	2	4	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95058444G>A	ENST00000554866.1	+	5	1203	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	SERPINA5_ENST00000554276.1_Silent_p.A363A|SERPINA5_ENST00000553780.1_Silent_p.A363A|RP11-986E7.7_ENST00000553947.1_Missense_Mutation_p.R17Q|SERPINA5_ENST00000329597.7_Silent_p.A363A			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	363					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGAGCAGCGGCAGCCACGG	0.567																																						uc001ydm.2																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1087-1089)gcG>gcA		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						173	178	176					14																	95058444		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058444G>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1089G>A	14.37:g.95058444G>A						SERPINA3_uc001ydo.4_5'UTR	p.A363A	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	1299	+			363					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1089G>A	CCDS9928.1																																																																																				0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		A	95058444	G	A	95058444	2	1	96	1	0	0	0	0	0	0	0	1	14092	1103	39	2		2	SERPINA5	14	95058444	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1939153	95058444	12291096	167	6536											
C14orf49	161176	broad.mit.edu	37	chr14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttccgaatgacacccGcagactgctcctccagcgtc	8	8	10	15	3	0	2	0	1	0	1	4	3	3	2	4	1	2	3	4	1	1	1	rs143391386		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95922000G>A	ENST00000334258.5	-	5	865	c.851C>T	c.(850-852)gCg>gTg	p.A284V	SYNE3_ENST00000554873.1_Missense_Mutation_p.A41V|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284V|SYNE3_ENST00000557275.1_Missense_Mutation_p.A284V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	284					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						AATGACACCCGCAGACTGCTC	0.567																																						uc001yei.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(850-852)gCg>gTg		Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.		A	VAL/ALA	1,4405	825.6+/-416.5	0,1,2202	89	93	92		851	-7.7	0	14	dbSNP_134	92	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	284/976	95922000	1,13005	2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95922000G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.851C>T	14.37:g.95922000G>A	ENSP00000334308:p.Ala284Val					C14orf49_uc010avi.3_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	4	866	-		all_cancers(154;0.0937)	284					A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.851C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.747204	0.00669	2.27E-4	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.35421	3.48;1.31;3.48;2.89	4.99	-7.67	0.01272	.	0.676502	0.12111	N	0.498534	T	0.06234	0.0161	N	0.00368	-1.59	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.30736	-0.9968	10	0.21014	T	0.42	-3.5344	3.8501	0.08951	0.352:0.0843:0.3967:0.1669	.	284;284;284	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	V	284;41;284;284	ENSP00000334308:A284V;ENSP00000452154:A41V;ENSP00000450562:A284V;ENSP00000450774:A284V	ENSP00000334308:A284V	A	-	2	0	C14orf49	94991753	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.424000	0.02448	-2.031000	0.00928	-0.556000	0.04195	GCG		0.567	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95922000	G	A	95922000	3	1	96	1	0	0	0	0	1	0	0	0	1776	1087	38	1	2128	1	C14orf49	14	95922000	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	863556	95922000	11427540	168	6537											
CDC42BPB	9578	broad.mit.edu	37	chr14	103412980	103412980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcagaatgagcagCgagctggtcttagaaggtgc	9	12	13	7	1	3	3	1	1	2	2	3	4	3	3	0	2	4	2	0	2	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:103412980C>T	ENST00000361246.2	-	28	3861	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATGAGCAGCGAGCTGGTCT	0.488																																						uc001ymi.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3571-3573)tcG>tcA		Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.							86	80	82					14																	103412980		2203	4294	6497	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103412980C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3573G>A	14.37:g.103412980C>T						CDC42BPB_uc001ymj.1_Silent_p.S293S	p.S1191S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	27	3805	-		Melanoma(154;0.155)	1191			PH.			Silent	SNP	ENST00000361246.2	37	c.3573G>A	CCDS9978.1																																																																																				0.488	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		T	103412980	C	T	103412980	2	4	96	1	0	0	0	0	0	0	0	1	3073	755	27	1		1	CDC42BPB	14	103412980	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	7490980	103412980	3936560	169	6538											
HERC2	8924	broad.mit.edu	37	chr15	28421858	28421858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcagagccagggtctgCgcgtctctactcccacatgc	6	9	11	15	3	3	1	1	0	2	1	6	1	4	1	2	2	4	0	2	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:28421858C>T	ENST00000261609.7	-	62	9597	c.9489G>A	c.(9487-9489)gcG>gcA	p.A3163A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGGTCTGCGCGTCTCTAC	0.493																																						uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(9487-9489)gcG>gcA		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							177	183	181					15																	28421858		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28421858C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9489G>A	15.37:g.28421858C>T							p.A3163A	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	61	9595	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3163						Silent	SNP	ENST00000261609.7	37	c.9489G>A	CCDS10021.1																																																																																				0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28421858	C	T	28421858	2	4	96	1	0	0	0	0	0	0	0	1	7058	755	27	1		1	HERC2	15	28421858	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		28421858	74109534	170	6539											
SPTBN5	51332	broad.mit.edu	37	chr15	42151139	42151139	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggagctcctccaggcgAtggcggcgggtcccggcttg	3	7	17	14	5	0	0	0	0	0	0	3	2	3	1	4	6	2	2	4	6	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:42151139A>G	ENST00000320955.6	-	48	8255	c.8028T>C	c.(8026-8028)caT>caC	p.H2676H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2676					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCCAGGCGATGGCGGCGGG	0.706																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7921-7923)caT>caC		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							11	13	12					15																	42151139		1901	4094	5995	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42151139A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8028T>C	15.37:g.42151139A>G							p.H2641H	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	47	8256	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2676						Silent	SNP	ENST00000320955.6	37	c.7923T>C																																																																																					0.706	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		G	42151139	A	G	42151139	2	3	96	1	0	0	0	0	0	0	0	1	15121	330	12	4		4	SPTBN5	15	42151139	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	13729281	42151139	60380253	171	6540											
SLC27A2	11001	broad.mit.edu	37	chr15	50528151	50528151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggaacttttaaacaccGcaaaatgaccctggtggagg	13	8	10	10	1	0	1	0	1	0	0	0	3	0	3	2	4	2	1	2	4	5	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:50528151G>A	ENST00000267842.5	+	10	1953	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R521H|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R339H	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	574					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTAAACACCGCAAAATGACC	0.418																																						uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1720-1722)cGc>cAc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							161	141	148					15																	50528151		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50528151G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1721G>A	15.37:g.50528151G>A	ENSP00000267842:p.Arg574His					SLC27A2_uc010bes.3_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.3_Missense_Mutation_p.R339H	p.R574H	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	9	1953	+		all_lung(180;0.00177)	574					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1721G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372083	0.82573	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50813	0.73;0.73;0.73	5.87	5.87	0.94306	.	0.224693	0.44483	D	0.000450	T	0.68449	0.3002	M	0.91459	3.21	0.43814	D	0.996372	D;D	0.67145	0.977;0.996	P;P	0.53649	0.648;0.731	T	0.75416	-0.3325	10	0.66056	D	0.02	.	14.8579	0.70355	0.0:0.0:0.8559:0.1441	.	521;574	Q6PF09;O14975	.;S27A2_HUMAN	H	521;574;339	ENSP00000370289:R521H;ENSP00000267842:R574H;ENSP00000444549:R339H	ENSP00000267842:R574H	R	+	2	0	SLC27A2	48315443	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.863000	0.39459	2.941000	0.99782	0.655000	0.94253	CGC		0.418	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		A	50528151	G	A	50528151	3	1	96	1	0	0	0	0	1	0	0	0	14526	1087	38	1	1759	1	SLC27A2	15	50528151	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	8377012	50528151	52003241	172	6541											
ARID3B	10620	broad.mit.edu	37	chr15	74888087	74888087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccggggcacccccagcgCagagccctccaccagctggt	7	4	11	19	2	0	1	0	0	0	1	2	1	2	1	6	3	3	3	6	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:74888087C>T	ENST00000346246.5	+	9	1886	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	553	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCCCCAGCGCAGAGCCCTCC	0.617																																						uc002aye.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1657-1659)gCa>gTa		Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.							40	46	44					15																	74888087		2197	4294	6491	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888087C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1655C>T	15.37:g.74888087C>T	ENSP00000343126:p.Ala552Val					ARID3B_uc002ayd.3_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	p.A553V	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			8	1859	+			553			Ser-rich.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1658C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032552	0.75504	.	.	ENSG00000179361	ENST00000346246	T	0.48522	0.81	4.4	3.48	0.39840	.	0.222724	0.36703	N	0.002445	T	0.32585	0.0834	N	0.19112	0.55	0.34822	D	0.738753	B;B	0.14438	0.006;0.01	B;B	0.17433	0.008;0.018	T	0.37596	-0.9699	10	0.38643	T	0.18	-3.2802	12.4942	0.55918	0.0:0.9186:0.0:0.0814	.	553;552	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	V	552	ENSP00000343126:A552V	ENSP00000343126:A552V	A	+	2	0	ARID3B	72675140	0.994000	0.37717	0.998000	0.56505	0.994000	0.84299	3.491000	0.53252	1.210000	0.43336	0.462000	0.41574	GCA		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		T	74888087	C	T	74888087	3	4	96	1	0	0	0	0	1	0	0	0	917	710	25	3	1685	3	ARID3B	15	74888087	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24359936	74888087	27643305	173	6542											
COMMD4	54939	broad.mit.edu	37	chr15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcggccagcctgtgcCgctgttatgaggagaagcaa	10	6	14	11	3	0	2	0	1	0	1	0	3	0	2	3	2	4	4	3	2	3	1	rs377428086		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75631625C>T	ENST00000267935.8	+	6	521	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_ENST00000338995.6_Missense_Mutation_p.R108C|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.R86C|COMMD4_ENST00000562789.1_Missense_Mutation_p.R114C	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	108						cytoplasm (GO:0005737)		p.R108C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612																																						uc002azy.3																			1	Substitution - Missense(1)	p.R108C(2)	kidney(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(322-324)Cgc>Tgc		Homo sapiens COMM domain containing 4 (COMMD4), mRNA.		C	CYS/ARG	0,4394		0,0,2197	30	32	31		322	4.6	1	15		31	3,8583	3.0+/-9.4	0,3,4290	no	missense	COMMD4	NM_017828.3	180	0,3,6487	TT,TC,CC		0.0349,0.0,0.0231	benign	108/200	75631625	3,12977	2197	4293	6490	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75631625C>T	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.322C>T	15.37:g.75631625C>T	ENSP00000267935:p.Arg108Cys					COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Silent_p.A90A|COMMD4_uc002baa.3_Missense_Mutation_p.R108C|COMMD4_uc010umg.2_3'UTR	p.R108C	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN			5	379	+			108					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.322C>T	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034546	0.54896	0.0	3.49E-4	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.11169	2.8;2.8	4.58	4.58	0.56647	.	0.059165	0.64402	D	0.000002	T	0.19725	0.0474	M	0.81341	2.54	0.80722	D	1	B;B	0.32425	0.125;0.371	B;B	0.34093	0.024;0.175	T	0.04900	-1.0919	10	0.59425	D	0.04	.	16.78	0.85561	0.0:1.0:0.0:0.0	.	108;108	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	C	108	ENSP00000267935:R108C;ENSP00000340867:R108C	ENSP00000267935:R108C	R	+	1	0	COMMD4	73418678	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.077000	0.50089	2.275000	0.75901	0.597000	0.82753	CGC		0.612	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		T	75631625	C	T	75631625	3	4	96	1	0	0	0	0	1	0	0	0	3718	652	23	2	344	2	COMMD4	15	75631625	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	743538	75631625	26899767	174	6543											
SIN3A	25942	broad.mit.edu	37	chr15	75722661	75722661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtgctgccagggatcCgacgctgctgggctgcatac	5	9	13	14	2	1	0	0	0	1	0	2	2	2	1	3	2	5	5	3	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75722661C>T	ENST00000394947.3	-	2	370	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SIN3A_ENST00000394949.4_Missense_Mutation_p.R19Q|SIN3A_ENST00000360439.4_Missense_Mutation_p.R19Q|SIN3A_ENST00000567289.1_Missense_Mutation_p.R19Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCCAGGGATCCGACGCTGCTG	0.577																																						uc002bai.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(55-57)cGg>cAg		Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.							67	57	60					15																	75722661		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75722661C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.56G>A	15.37:g.75722661C>T	ENSP00000378402:p.Arg19Gln					SIN3A_uc002baj.3_Missense_Mutation_p.R19Q|SIN3A_uc010uml.2_Missense_Mutation_p.R19Q|SIN3A_uc002bak.4_Missense_Mutation_p.R19Q	p.R19Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			1	315	-			19						Missense_Mutation	SNP	ENST00000394947.3	37	c.56G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	36	5.935681	0.97122	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.46063	0.88;0.88;0.88	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.50333	1.59	0.80722	D	1	B	0.21688	0.059	B	0.08055	0.003	T	0.12941	-1.0528	10	0.30078	T	0.28	-24.8624	18.6584	0.91463	0.0:1.0:0.0:0.0	.	19	Q96ST3	SIN3A_HUMAN	Q	19	ENSP00000378402:R19Q;ENSP00000378403:R19Q;ENSP00000353622:R19Q	ENSP00000353622:R19Q	R	-	2	0	SIN3A	73509714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.664000	0.90586	0.655000	0.94253	CGG		0.577	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		T	75722661	C	T	75722661	3	4	96	1	0	0	0	0	1	0	0	0	14325	652	23	2	3845	2	SIN3A	15	75722661	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	91036	75722661	26808731	175	6544											
WDR61	80349	broad.mit.edu	37	chr15	78578420	78578420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcaggacagaatgcaaCgttcagcacccaggaggcat	13	6	11	11	1	3	1	3	0	0	1	3	3	3	3	1	3	3	4	1	3	2	1	rs148690647		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:78578420C>T	ENST00000267973.2	-	9	983	c.712G>A	c.(712-714)Gtt>Att	p.V238I	WDR61_ENST00000558311.1_Missense_Mutation_p.V238I|WDR61_ENST00000558459.1_Missense_Mutation_p.V145I|WDR61_ENST00000559332.1_5'UTR			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	238					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAGAATGCAACGTTCAGCACC	0.433													C|||	1	0.000199681	0	0	5008	,	,		18814	0		0.001	False		,,,				2504	0					uc002bdn.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(712-714)Gtt>Att		Homo sapiens WD repeat domain 61 (WDR61), mRNA.		C	ILE/VAL	2,4390	4.2+/-10.8	0,2,2194	60	51	54		712	5.7	0.6	15	dbSNP_134	54	2,8584	2.2+/-6.3	0,2,4291	yes	missense	WDR61	NM_025234.1	29	0,4,6485	TT,TC,CC		0.0233,0.0455,0.0308	benign	238/306	78578420	4,12974	2196	4293	6489	SO:0001583	missense	80349						protein binding	g.chr15:78578420C>T		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.712G>A	15.37:g.78578420C>T	ENSP00000267973:p.Val238Ile					WDR61_uc002bdo.3_Missense_Mutation_p.V238I	p.V238I	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN			8	788	-			238					D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	c.712G>A	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804776	0.70682	4.55E-4	2.33E-4	ENSG00000140395	ENST00000267973	T	0.61040	0.14	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.175627	0.49916	D	0.000123	T	0.54565	0.1866	L	0.43757	1.38	0.80722	D	1	B	0.17268	0.021	B	0.22386	0.039	T	0.48917	-0.8992	10	0.46703	T	0.11	-1.148	18.7811	0.91933	0.0:1.0:0.0:0.0	.	238	Q9GZS3	WDR61_HUMAN	I	238	ENSP00000267973:V238I	ENSP00000267973:V238I	V	-	1	0	WDR61	76365475	1.000000	0.71417	0.630000	0.29268	0.984000	0.73092	7.363000	0.79516	2.672000	0.90937	0.655000	0.94253	GTT		0.433	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		T	78578420	C	T	78578420	3	4	96	1	0	0	0	0	1	0	0	0	17309	536	19	1	217	1	WDR61	15	78578420	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2855759	78578420	23952972	176	6545											
MESDC1	59274	broad.mit.edu	37	chr15	81295114	81295114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagggttgcgccgtgctgCgcgccacgccgctggccgac	4	5	16	16	7	0	0	0	0	0	0	0	1	0	0	4	2	4	4	4	2	0	1	rs372825596		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:81295114C>T	ENST00000267984.2	+	1	1820	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	168										endometrium(1)|lung(2)	3						CGCCGTGCTGCGCGCCACGCC	0.746																																						uc002bfz.3																			0				endometrium(1)|lung(2)	3						c.(502-504)Cgc>Tgc		Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.		C	CYS/ARG	0,4254		0,0,2127	9	10	10		502	1.3	1	15		10	1,8247		0,1,4123	no	missense	MESDC1	NM_022566.2	180	0,1,6250	TT,TC,CC		0.0121,0.0,0.0080	probably-damaging	168/363	81295114	1,12501	2127	4124	6251	SO:0001583	missense	59274							g.chr15:81295114C>T	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.502C>T	15.37:g.81295114C>T	ENSP00000267984:p.Arg168Cys						p.R168C	NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN			0	1820	+			168						Missense_Mutation	SNP	ENST00000267984.2	37	c.502C>T	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494370	0.44352	0.0	1.21E-4	ENSG00000140406	ENST00000267984	T	0.08370	3.1	3.45	1.27	0.21489	.	0.081503	0.46145	D	0.000314	T	0.06826	0.0174	L	0.27053	0.805	0.58432	D	0.999991	D	0.59767	0.986	B	0.43783	0.431	T	0.34004	-0.9846	10	0.59425	D	0.04	-12.2101	10.7082	0.45966	0.451:0.549:0.0:0.0	.	168	Q9H1K6	MESD1_HUMAN	C	168	ENSP00000267984:R168C	ENSP00000267984:R168C	R	+	1	0	MESDC1	79082169	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.615000	0.46368	0.729000	0.32403	0.462000	0.41574	CGC		0.746	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		T	81295114	C	T	81295114	3	4	96	1	0	0	0	0	1	0	0	0	9480	768	27	1	504	1	MESDC1	15	81295114	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2716694	81295114	21236278	177	6546											
WDR73	84942	broad.mit.edu	37	chr15	85189474	85189474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagacttcggagcctcGccccatggaggactccgggt	6	7	13	15	3	0	1	0	0	0	1	3	4	1	4	5	4	2	1	5	4	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:85189474G>A	ENST00000434634.2	-	6	518	c.458C>T	c.(457-459)gCg>gTg	p.A153V	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	153										cervix(1)|large_intestine(1)|lung(1)	3						TCGGAGCCTCGCCCCATGGAG	0.582																																						uc002bkw.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(457-459)gCg>gTg		Homo sapiens WD repeat domain 73 (WDR73), mRNA.							50	54	53					15																	85189474		2002	4168	6170	SO:0001583	missense	84942							g.chr15:85189474G>A	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.458C>T	15.37:g.85189474G>A	ENSP00000387982:p.Ala153Val					WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_Missense_Mutation_p.A153V|AL357213_uc002bky.1_3'UTR	p.A153V	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN			5	474	-			153					Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	c.458C>T	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411253	0.11812	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.29917	1.55	5.87	-11.7	0.00046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.677027	0.15172	N	0.276599	T	0.10852	0.0265	N	0.12746	0.255	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.09377	0.004;0.004	T	0.08911	-1.0699	10	0.38643	T	0.18	0.8423	8.3571	0.32338	0.6708:0.0824:0.1632:0.0835	.	153;153	B4DI20;Q6P4I2	.;WDR73_HUMAN	V	161;153	ENSP00000387982:A153V	ENSP00000381539:A161V	A	-	2	0	WDR73	82990478	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.972000	0.03802	-3.141000	0.00233	-1.110000	0.02074	GCG		0.582	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		A	85189474	G	A	85189474	3	1	96	1	0	0	0	0	1	0	0	0	17320	1087	38	1	690	1	WDR73	15	85189474	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3894360	85189474	17341918	178	6547											
LRRK1	79705	broad.mit.edu	37	chr15	101567914	101567914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcagccgggacgacgaCgtgcagtacctgacggacag	9	3	15	14	7	0	1	0	1	0	0	0	5	0	3	3	2	3	3	3	2	1	1	rs535655027		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:101567914C>T	ENST00000388948.3	+	19	2957	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	LRRK1_ENST00000284395.5_Silent_p.D863D	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGACGACGACGTGCAGTACC	0.667																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2596-2598)gaC>gaT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							25	36	32					15																	101567914		2164	4270	6434	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567914C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2598C>T	15.37:g.101567914C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.D866D	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		18	2917	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		866						Silent	SNP	ENST00000388948.3	37	c.2598C>T	CCDS42086.1																																																																																				0.667	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101567914	C	T	101567914	2	4	96	1	0	0	0	0	0	0	0	1	9032	535	19	1		1	LRRK1	15	101567914	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	16378440	101567914	963478	179	6548											
HS3ST2	9956	broad.mit.edu	37	chr16	22926622	22926622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgactcatcactgacccGgccggcgagatggggcgagt	8	5	16	12	5	2	2	2	1	0	1	2	6	2	2	2	4	1	0	2	4	0	0	rs148264643		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:22926622G>A	ENST00000261374.3	+	2	1277	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	281					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTGACCCGGCCGGCGAGA	0.552																																						uc002dli.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(841-843)ccG>ccA		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.		G		0,4394		0,0,2197	99	101	100		843	-10.4	0	16	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST2	NM_006043.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		281/368	22926622	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926622G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.843G>A	16.37:g.22926622G>A							p.P281P	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	915	+			281					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.843G>A	CCDS10606.1																																																																																				0.552	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		A	22926622	G	A	22926622	2	1	96	1	0	0	0	0	0	0	0	1	7364	1103	39	2		2	HS3ST2	16	22926622	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08		22926622	67428131	180	6549											
C16orf54	283897	broad.mit.edu	37	chr16	29756241	29756241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggggggcccctccacgCgcccagagggcggctctgga	5	4	17	15	4	1	1	0	0	1	1	2	2	2	2	4	6	1	1	4	6	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:29756241C>T	ENST00000329410.3	-	2	127	c.32G>A	c.(31-33)cGc>cAc	p.R11H	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	11						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCCCTCCACGCGCCCAGAGGG	0.652																																						uc002dtp.2																			0				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(31-33)cGc>cAc		Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.							12	15	14					16																	29756241		2184	4277	6461	SO:0001583	missense	283897					integral to membrane		g.chr16:29756241C>T	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.32G>A	16.37:g.29756241C>T	ENSP00000327506:p.Arg11His					BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	p.R11H	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN			1	141	-			11					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.32G>A	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	C	1.864	-0.461804	0.04508	.	.	ENSG00000185905	ENST00000329410	T	0.44482	0.92	5.3	-1.96	0.07525	.	1.361290	0.05281	N	0.519402	T	0.14399	0.0348	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12553	-1.0543	10	0.14252	T	0.57	-0.8817	3.1745	0.06564	0.1386:0.0844:0.4283:0.3488	.	11	Q6UWD8	CP054_HUMAN	H	11	ENSP00000327506:R11H	ENSP00000327506:R11H	R	-	2	0	C16orf54	29663742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.534000	0.06150	-0.612000	0.05701	-0.657000	0.03884	CGC		0.652	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		T	29756241	C	T	29756241	3	4	96	1	0	0	0	0	1	0	0	0	1819	768	27	1	646	1	C16orf54	16	29756241	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6829619	29756241	60598512	181	6550											
ZNF689	115509	broad.mit.edu	37	chr16	30616193	30616193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagggccgtgcgctggcGgaagcggcggttgcactcga	6	5	19	11	7	0	0	0	0	0	0	1	4	0	1	1	5	3	3	1	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30616193G>A	ENST00000287461.3	-	3	1232	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	299					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GTGCGCTGGCGGAAGCGGCGG	0.672																																						uc002dyx.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(895-897)Cgc>Tgc		Homo sapiens zinc finger protein 689 (ZNF689), mRNA.							60	42	48					16																	30616193		2197	4298	6495	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616193G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.895C>T	16.37:g.30616193G>A	ENSP00000287461:p.Arg299Cys					ZNF689_uc010bzy.3_5'UTR	p.R299C	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	1215	-			299					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.895C>T	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.472711	0.63737	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.18502	2.21	4.95	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000182	T	0.25457	0.0619	L	0.35793	1.09	0.46260	D	0.99895	D	0.89917	1.0	D	0.91635	0.999	T	0.00692	-1.1607	10	0.41790	T	0.15	-33.0005	5.7979	0.18397	0.0957:0.0:0.7108:0.1935	.	299	Q96CS4	ZN689_HUMAN	C	299	ENSP00000287461:R299C	ENSP00000287461:R299C	R	-	1	0	ZNF689	30523694	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	-0.549000	0.06041	2.753000	0.94483	0.455000	0.32223	CGC		0.672	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		A	30616193	G	A	30616193	3	1	96	1	0	0	0	0	1	0	0	0	18091	1116	39	2	611	2	ZNF689	16	30616193	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	859952	30616193	59738560	182	6551											
FBXL19	54620	broad.mit.edu	37	chr16	30958480	30958480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacccgaagcttgtgccCggctggcagctgccgggccc	4	7	13	17	3	1	0	1	0	1	0	2	1	1	0	4	3	4	4	4	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30958480C>T	ENST00000380310.2	+	11	2172	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ORAI3_ENST00000562699.1_5'Flank|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000471231.2_Missense_Mutation_p.R360W|ORAI3_ENST00000318663.4_5'Flank|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.R652W|FBXL19_ENST00000565690.1_Missense_Mutation_p.R536W|FBXL19_ENST00000338343.4_Missense_Mutation_p.R652W	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	672					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGCTTGTGCCCGGCTGGCAGC	0.711																																						uc002eab.2																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(2014-2016)Cgg>Tgg		Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.							11	14	13					16																	30958480		1963	4129	6092	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30958480C>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.2014C>T	16.37:g.30958480C>T	ENSP00000369666:p.Arg672Trp					FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.3_5'Flank	p.R672W	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			10	2172	+			672					A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.2014C>T	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.340376|3.340376	0.60963|0.60963	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.31247	.|1.5;1.5	5.27|5.27	4.23|4.23	0.50019|0.50019	.|.	.|0.101188	.|0.33438	.|N	.|0.004916	T|T	0.41026|0.41026	0.1141|0.1141	L|L	0.27053|0.27053	0.805|0.805	0.38287|0.38287	D|D	0.942589|0.942589	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.982;0.953	T|T	0.45011|0.45011	-0.9290|-0.9290	5|10	.|0.66056	.|D	.|0.02	-11.8157|-11.8157	13.8645|13.8645	0.63581|0.63581	0.2301:0.7699:0.0:0.0|0.2301:0.7699:0.0:0.0	.|.	.|672;629	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	L|W	563|652;672	.|ENSP00000339712:R652W;ENSP00000369666:R672W	.|ENSP00000339712:R652W	P|R	+|+	2|1	0|2	FBXL19|FBXL19	30865981|30865981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.330000|1.330000	0.33781|0.33781	2.456000|2.456000	0.83038|0.83038	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.711	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		T	30958480	C	T	30958480	3	4	96	1	0	0	0	0	1	0	0	0	5715	643	23	2	2056	2	FBXL19	16	30958480	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	342287	30958480	59396273	183	6552											
CCDC102A	92922	broad.mit.edu	37	chr16	57546730	57546730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcctcggtgccaaagcGagcactgcggatcttcccga	7	7	12	15	4	1	0	0	0	1	0	4	3	3	1	4	3	4	1	4	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:57546730G>A	ENST00000258214.2	-	9	1822	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	526										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCCAAAGCGAGCACTGCGG	0.637																																						uc002elw.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1576-1578)Cgc>Tgc		Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.							88	76	80					16																	57546730		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57546730G>A	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1576C>T	16.37:g.57546730G>A	ENSP00000258214:p.Arg526Cys						p.R526C	NM_033212	NP_149989	Q96A19	C102A_HUMAN			8	1789	-			526					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1576C>T	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.715551	0.89112	.	.	ENSG00000135736	ENST00000258214	T	0.52057	0.68	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.56790	0.2009	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61987	-0.6949	10	0.72032	D	0.01	-19.889	16.223	0.82269	0.0:0.0:1.0:0.0	.	526	Q96A19	C102A_HUMAN	C	526	ENSP00000258214:R526C	ENSP00000258214:R526C	R	-	1	0	CCDC102A	56104231	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	6.216000	0.72212	2.407000	0.81776	0.486000	0.48141	CGC		0.637	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57546730	G	A	57546730	3	1	96	1	0	0	0	0	1	0	0	0	2736	1058	37	2	80	2	CCDC102A	16	57546730	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	26588250	57546730	32808023	184	6553											
FAM65A	79567	broad.mit.edu	37	chr16	67578997	67578997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgcctctccctgcGccagccaggcttggctgagg	3	8	14	16	2	1	1	0	1	1	0	2	1	1	1	5	4	3	2	5	4	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:67578997G>A	ENST00000379312.3	+	17	3141	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R1017H|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R1022H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R1003H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R1023H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1007						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCCTGCGCCAGCCAGGC	0.627																																						uc010vjp.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(3067-3069)cGc>cAc		Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.							81	86	84					16																	67578997		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578997G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3020G>A	16.37:g.67578997G>A	ENSP00000368614:p.Arg1007His					FAM65A_uc002eth.3_Missense_Mutation_p.R1003H|FAM65A_uc010cej.3_Missense_Mutation_p.R1007H|FAM65A_uc010vjq.2_Missense_Mutation_p.R1017H|FAM65A_uc002etk.3_Missense_Mutation_p.R1001H	p.R1023H	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	16	3254	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1007					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.3068G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803953	0.50315	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76709	-1.04;-1.04;-1.04	5.44	5.44	0.79542	.	0.232252	0.44483	D	0.000458	T	0.65883	0.2734	L	0.43152	1.355	0.32542	N	0.533556	P;P;P	0.41313	0.745;0.745;0.745	B;B;B	0.32805	0.153;0.153;0.153	T	0.75235	-0.3389	10	0.41790	T	0.15	-15.6178	10.4486	0.44509	0.134:0.0:0.866:0.0	.	1017;1023;1007	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	1007;1003;1023;1017	ENSP00000368614:R1007H;ENSP00000042381:R1003H;ENSP00000400099:R1023H	ENSP00000042381:R1003H	R	+	2	0	FAM65A	66136498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.169000	0.42434	2.567000	0.86603	0.655000	0.94253	CGC		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		A	67578997	G	A	67578997	3	1	96	1	0	0	0	0	1	0	0	0	5599	1087	38	1	3070	1	FAM65A	16	67578997	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10032267	67578997	22775756	185	6554											
PKD1L2	114780	broad.mit.edu	37	chr16	81236192	81236192	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgactgggacaggccGgagcatgcagtcacactgag	9	6	14	12	1	1	2	1	2	0	0	2	4	2	4	2	3	2	3	2	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:81236192G>A	ENST00000525539.1	-	0	1055				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGACAGGCCGGAGCATGCAG	0.582																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1054-1056)tcC>tcT		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							60	67	65					16																	81236192		2148	4263	6411			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236192G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236192G>A						PKD1L2_uc002fgj.3_Silent_p.S352S	p.S352S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			5	1056	-			352					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1056C>T																																																																																					0.582	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81236192	G	A	81236192	1	1	96	0	1	0	0	0	0	0	0	0	11965	1103	39	2		2	PKD1L2	16	81236192	RNA	SNP	G	TCGA-06-5858-01A-01D-1696-08	13657195	81236192	9118561	186	6555											
SLC7A5	8140	broad.mit.edu	37	chr16	87873310	87873310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggtagcggctcaccaCggccacggcctcggacgaca	7	4	15	15	6	1	0	1	0	0	0	2	2	1	1	3	6	1	2	3	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:87873310C>T	ENST00000261622.4	-	5	1002	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.V47M	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	313					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CGGCTCACCACGGCCACGGCC	0.662																																						uc002fkm.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(937-939)Gtg>Atg		Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.							79	65	70					16																	87873310		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87873310C>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.937G>A	16.37:g.87873310C>T	ENSP00000261622:p.Val313Met						p.V313M	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	4	1009	-			313					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.937G>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414024	0.83449	.	.	ENSG00000103257	ENST00000261622	D	0.90788	-2.73	5.41	4.44	0.53790	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96326	0.9240	10	0.87932	D	0	.	14.8515	0.70300	0.1449:0.8551:0.0:0.0	.	313	Q01650	LAT1_HUMAN	M	313	ENSP00000261622:V313M	ENSP00000261622:V313M	V	-	1	0	SLC7A5	86430811	1.000000	0.71417	0.988000	0.46212	0.831000	0.47069	7.197000	0.77814	1.404000	0.46819	0.563000	0.77884	GTG		0.662	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		T	87873310	C	T	87873310	3	4	96	1	0	0	0	0	1	0	0	0	14700	536	19	1	610	1	SLC7A5	16	87873310	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6637118	87873310	2481443	187	6556											
RPA1	6117	broad.mit.edu	37	chr17	1780602	1780602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctagaactggttgaCgaaagtgtgagtgtttgtca	9	14	11	7	1	2	3	1	2	1	1	3	4	2	3	1	1	1	2	1	1	3	4	rs376851045		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:1780602C>T	ENST00000254719.5	+	8	794	c.684C>T	c.(682-684)gaC>gaT	p.D228D	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	228					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACTGGTTGACGAAAGTGTGA	0.562								Nucleotide excision repair (NER)																														uc002fto.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(682-684)gaC>gaT	Nucleotide excision repair (NER)	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.		T		0,4406		0,0,2203	117	89	98		684	6.1	1	17		98	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous	RPA1	NM_002945.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/617	1780602	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1780602C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.684C>T	17.37:g.1780602C>T							p.D228D	NM_002945	NP_002936	P27694	RFA1_HUMAN			7	799	+			228					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.684C>T	CCDS11014.1																																																																																				0.562	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		T	1780602	C	T	1780602	2	4	96	1	0	0	0	0	0	0	0	1	13536	535	19	1		1	RPA1	17	1780602	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		1780602	79414608	188	6557											
PLD2	5338	broad.mit.edu	37	chr17	4713214	4713214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgctgtacatgtgcctCgagacaggtgccatctcatt	7	13	9	12	1	1	1	1	0	1	1	4	2	2	1	3	1	4	2	3	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:4713214C>T	ENST00000263088.6	+	9	881	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PLD2_ENST00000572940.1_Silent_p.L250L|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	250	PH.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACATGTGCCTCGAGACAGGTG	0.562																																						uc002fzc.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(748-750)ctC>ctT		Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	Choline(DB00122)						195	167	176					17																	4713214		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4713214C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.750C>T	17.37:g.4713214C>T						PLD2_uc010vsj.2_Silent_p.L107L|PLD2_uc002fzd.3_Silent_p.L250L	p.L250L	NM_002663	NP_002654	O14939	PLD2_HUMAN			8	876	+			250			PH.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.750C>T	CCDS11057.1																																																																																				0.562	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		T	4713214	C	T	4713214	2	4	96	1	0	0	0	0	0	0	0	1	12046	871	31	2		2	PLD2	17	4713214	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2932612	4713214	76481996	189	6558											
WSCD1	23302	broad.mit.edu	37	chr17	6023636	6023636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcactctagagtggccGgactttgtcaacagctacgc	8	10	10	13	2	3	1	2	0	1	1	4	2	4	2	2	2	3	1	2	2	3	3	rs146617432		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:6023636G>A	ENST00000574946.1	+	9	1773	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	WSCD1_ENST00000573634.1_Silent_p.P345P|WSCD1_ENST00000574232.1_Silent_p.P461P|WSCD1_ENST00000539421.1_Silent_p.P461P|WSCD1_ENST00000317744.5_Silent_p.P461P			Q658N2	WSCD1_HUMAN	WSC domain containing 1	461						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.P461P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TAGAGTGGCCGGACTTTGTCA	0.672																																						uc010cli.3																			1	Substitution - coding silent(1)	p.P461P(2)	endometrium(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1381-1383)ccG>ccA		Homo sapiens WSC domain containing 1 (WSCD1), mRNA.		G		0,4406		0,0,2203	127	121	123		1383	-11.1	0.2	17	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WSCD1	NM_015253.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		461/576	6023636	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6023636G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1383G>A	17.37:g.6023636G>A						WSCD1_uc002gcn.3_Silent_p.P461P|WSCD1_uc002gco.3_Silent_p.P461P|WSCD1_uc010clj.3_Silent_p.P152P	p.P461P	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			8	1762	+			461					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1383G>A	CCDS32538.1																																																																																				0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		A	6023636	G	A	6023636	2	1	96	1	0	0	0	0	0	0	0	1	17403	1103	39	2		2	WSCD1	17	6023636	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1310422	6023636	75171574	190	6559											
DLG4	1742	broad.mit.edu	37	chr17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcagaaccgagtcttctCgacctggtgggaggtggggc	7	8	16	10	2	3	1	1	0	2	1	4	4	3	2	2	5	2	1	2	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7097030C>T	ENST00000399506.2	-	15	1738	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	DLG4_ENST00000302955.6_Missense_Mutation_p.R513Q|DLG4_ENST00000399510.2_Missense_Mutation_p.R559Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	516					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGAGTCTTCTCGACCTGGTGG	0.612																																						uc010vtn.2																			1	Substitution - Missense(1)	p.R559Q(1)	ovary(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1366-1368)cGa>cAa		Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.							64	73	70					17																	7097030		2007	4176	6183	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7097030C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1547G>A	17.37:g.7097030C>T	ENSP00000382425:p.Arg516Gln					DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.R513Q|DLG4_uc002get.4_Missense_Mutation_p.R559Q|DLG4_uc010vto.2_Missense_Mutation_p.R556Q	p.R456Q	NM_001128827	NP_001122299	P78352	DLG4_HUMAN			13	1627	-			516			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1367G>A		.	.	.	.	.	.	.	.	.	.	C	12.70	2.017973	0.35606	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	D;D;D	0.82167	-1.58;-1.58;-1.58	5.2	5.2	0.72013	Src homology-3 domain (1);	.	.	.	.	T	0.80549	0.4644	N	0.16368	0.405	0.52099	D	0.999943	B;B;B;D	0.71674	0.003;0.003;0.092;0.998	B;B;B;D	0.79784	0.006;0.006;0.042;0.993	T	0.74312	-0.3706	9	0.12103	T	0.63	.	9.6178	0.39704	0.0:0.908:0.0:0.092	.	556;516;513;559	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	Q	516;513;559;559;456;559	ENSP00000382425:R516Q;ENSP00000307471:R513Q;ENSP00000382428:R559Q	ENSP00000293813:R559Q	R	-	2	0	DLG4	7037754	0.984000	0.35163	1.000000	0.80357	0.974000	0.67602	0.892000	0.28322	2.722000	0.93159	0.655000	0.94253	CGA		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		T	7097030	C	T	7097030	3	4	96	1	0	0	0	0	1	0	0	0	4557	884	31	2	651	2	DLG4	17	7097030	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1073394	7097030	74098180	191	6560											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	96	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	481376	7578406	73616804	192	6561											
KDM6B	23135	broad.mit.edu	37	chr17	7752152	7752152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtgctaccgccctgcCgcccacctcagcggccccta	6	6	9	20	3	2	0	2	0	0	0	2	0	2	0	7	2	4	1	7	2	2	2	rs376654821		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7752152C>T	ENST00000448097.2	+	11	2877	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P849L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	849	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCGCCCTGCCGCCCACCTCA	0.687																																						uc002gix.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(451-453)cCg>cTg		Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.		C	LEU/PRO	1,4371		0,1,2185	37	45	42		2546	3.5	0.1	17		42	0,8562		0,0,4281	no	missense	KDM6B	NM_001080424.1	98	0,1,6466	TT,TC,CC		0.0,0.0229,0.0077	benign	849/1683	7752152	1,12933	2186	4281	6467	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752152C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2546C>T	17.37:g.7752152C>T	ENSP00000412513:p.Pro849Leu					KDM6B_uc002giw.1_Missense_Mutation_p.P849L	p.P151L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			0	1289	+			849					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.452C>T		.	.	.	.	.	.	.	.	.	.	C	2.716	-0.267630	0.05754	2.29E-4	0.0	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.81330	-1.48;-1.48	4.47	3.49	0.39957	.	1.006310	0.07997	N	0.988182	T	0.66297	0.2775	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.019;0.079	B;B	0.14023	0.004;0.01	T	0.57585	-0.7786	10	0.87932	D	0	-1.5994	6.9992	0.24799	0.0:0.7939:0.0:0.2061	.	849;849	O15054;O15054-1	KDM6B_HUMAN;.	L	849	ENSP00000254846:P849L;ENSP00000412513:P849L	ENSP00000254846:P849L	P	+	2	0	KDM6B	7692877	0.095000	0.21747	0.051000	0.19133	0.124000	0.20399	1.606000	0.36826	1.235000	0.43724	0.462000	0.41574	CCG		0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		T	7752152	C	T	7752152	3	4	96	1	0	0	0	0	1	0	0	0	8138	652	23	2	2576	2	KDM6B	17	7752152	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	173746	7752152	73443058	193	6562											
C17orf76	388341	broad.mit.edu	37	chr17	16347362	16347362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaggtagctggtcaccCgctccaggtctcgggaggtc	5	9	15	12	2	2	0	1	0	1	0	5	1	3	1	2	5	1	5	2	5	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:16347362C>T	ENST00000470794.1	-	4	602	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|FAM211A_ENST00000409083.3_Silent_p.A153A|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA	NM_001113567.2	NP_001107039.1														lung(1)	1						GCTGGTCACCCGCTCCAGGTC	0.632																																						uc010cph.1																			0				lung(1)	1						c.(574-576)cGg>cAg		Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA.							35	30	32					17																	16347362		2203	4300	6503	SO:0001583	missense	388341							g.chr17:16347362C>T																												ENST00000470794.1:c.575G>A	17.37:g.16347362C>T	ENSP00000419502:p.Arg192Gln					FAM211A_uc002gqh.2_Silent_p.A153A|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron|FAM211A_uc002gqg.1_3'UTR	p.R192Q	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN			3	751	-			192						Missense_Mutation	SNP	ENST00000470794.1	37	c.575G>A	CCDS45620.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766204	0.90020	.	.	ENSG00000181350	ENST00000470794	T	0.52754	0.65	5.34	4.35	0.52113	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.38539	D	0.949162	D	0.59767	0.986	P	0.47626	0.552	T	0.50866	-0.8777	8	0.44086	T	0.13	.	12.6825	0.56930	0.0:0.9142:0.0:0.0858	.	192	Q8NAA5	CQ076_HUMAN	Q	192	ENSP00000419502:R192Q	ENSP00000419502:R192Q	R	-	2	0	C17orf76	16288087	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.647000	0.67923	2.680000	0.91292	0.561000	0.74099	CGG		0.632	FAM211A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130463.3			T	16347362	C	T	16347362	3	4	96	1	0	0	0	0	1	0	0	0	1881	652	23	2	463	2	C17orf76	17	16347362	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8595210	16347362	64847848	194	6563											
NOS2	4843	broad.mit.edu	37	chr17	26116655	26116655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctccacgaggggctgcGgggactcattctgctgcttg	4	10	14	13	3	3	0	1	0	2	0	4	2	3	1	2	4	3	3	2	4	0	2	rs375397175		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:26116655G>A	ENST00000313735.6	-	3	403	c.170C>T	c.(169-171)cCg>cTg	p.P57L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	57					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GAGGGGCTGCGGGGACTCATT	0.552																																						uc002gzu.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(169-171)cCg>cTg		Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	G	LEU/PRO	0,4406		0,0,2203	189	157	168		170	-1.3	0	17		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOS2	NM_000625.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	57/1154	26116655	1,13005	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116655G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.170C>T	17.37:g.26116655G>A	ENSP00000327251:p.Pro57Leu					NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	p.P57L	NM_000625	NP_000616	P35228	NOS2_HUMAN			2	434	-			57					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.170C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659999	0.29515	0.0	1.16E-4	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01599	4.74	4.79	-1.33	0.09172	.	1.210610	0.05917	N	0.632665	T	0.01421	0.0046	N	0.20685	0.6	0.09310	N	1	B;B	0.19445	0.036;0.01	B;B	0.11329	0.006;0.003	T	0.48269	-0.9050	10	0.46703	T	0.11	.	3.6614	0.08240	0.2693:0.0:0.4433:0.2874	.	57;57	F8WEM3;P35228	.;NOS2_HUMAN	L	57	ENSP00000327251:P57L	ENSP00000305638:P57L	P	-	2	0	NOS2	23140782	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	0.575000	0.23729	-0.040000	0.13580	-0.391000	0.06502	CCG		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26116655	G	A	26116655	3	1	96	1	0	0	0	0	1	0	0	0	10543	1116	39	2	3391	2	NOS2	17	26116655	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	9769293	26116655	55078555	195	6564											
SRCIN1	80725	broad.mit.edu	37	chr17	36704805	36704805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctacctctagctctgcGatgatgcgatcctcgtcatc	7	12	8	14	3	3	2	1	2	2	0	6	4	4	2	3	0	4	1	3	0	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:36704805G>A	ENST00000264659.7	-	17	3482	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	SRCIN1_ENST00000578925.1_Silent_p.I1120I|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	958					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTAGCTCTGCGATGATGCGAT	0.667																																						uc002hqd.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(3256-3258)atC>atT		Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.							89	91	91					17																	36704805		2095	4200	6295	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36704805G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3258C>T	17.37:g.36704805G>A						SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	p.I1086I	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			16	3483	-			958					Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.3258C>T	CCDS45660.1																																																																																				0.667	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		A	36704805	G	A	36704805	2	1	96	1	0	0	0	0	0	0	0	1	15135	1048	37	2		2	SRCIN1	17	36704805	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10588150	36704805	44490405	196	6565											
SC65	10609	broad.mit.edu	37	chr17	39966036	39966036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccacccacattgggggTcaaattggcctcacagtcca	10	8	10	13	0	2	0	2	0	0	0	3	0	3	0	4	3	1	1	4	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:39966036T>C	ENST00000355468.3	-	5	1304	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	LEPREL4_ENST00000393928.1_Missense_Mutation_p.T280A			Q92791	SC65_HUMAN	leprecan-like 4	280					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACATTGGGGGTCAAATTGGCC	0.562																																						uc002hxu.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(1111-1113)Acc>Gcc		Homo sapiens leprecan-like 4 (LEPREL4), mRNA.							101	86	91					17																	39966036		2203	4300	6503	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39966036T>C	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.838A>G	17.37:g.39966036T>C	ENSP00000347649:p.Thr280Ala					FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Missense_Mutation_p.T280A	p.T371A	NM_006455	NP_006446	Q92791	SC65_HUMAN			4	1305	-			280			Asp/Glu-rich (acidic).		Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.1111A>G	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183213	0.38511	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.25579	1.79;1.79	5.58	4.46	0.54185	.	0.160793	0.56097	D	0.000034	T	0.14184	0.0343	N	0.16037	0.36	0.38659	D	0.952031	P;P	0.49559	0.925;0.925	P;B	0.44561	0.453;0.359	T	0.06607	-1.0817	10	0.02654	T	1	-34.9329	11.8289	0.52283	0.0:0.0:0.1459:0.8541	.	269;280	B4DVZ5;Q92791	.;SC65_HUMAN	A	280;280;269	ENSP00000347649:T280A;ENSP00000377505:T280A	ENSP00000347649:T280A	T	-	1	0	LEPREL4	37219562	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.845000	0.86875	2.130000	0.65690	0.528000	0.53228	ACC		0.562	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			C	39966036	T	C	39966036	3	2	96	1	0	0	0	0	1	0	0	0	13867	1667	58	4	495	4	SC65	17	39966036	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	3261231	39966036	41229174	197	6566											
BRCA1	672	broad.mit.edu	37	chr17	41243940	41243940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaatttcttggcccctcttCggtaaccctgagccaaatgt	8	13	7	13	1	2	1	0	1	2	0	3	1	2	1	4	2	2	1	4	2	3	5	rs55930959		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:41243940C>T	ENST00000357654.3	-	10	3726	c.3608G>A	c.(3607-3609)cGa>cAa	p.R1203Q	BRCA1_ENST00000493795.1_Missense_Mutation_p.R1156Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1203Q|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R907Q|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1203Q|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1203Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1203					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCCCTCTTCGGTAACCCTG	0.433			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120	GRCh37	CM042676	BRCA1	M	rs55930959	c.(3607-3609)cGa>cAa	Homologous recombination	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.							59	54	56					17																	41243940		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41243940C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3608G>A	17.37:g.41243940C>T	ENSP00000350283:p.Arg1203Gln	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.3_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	p.R1203Q	NM_007294	NP_009228	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3840	-		Breast(137;0.000717)	1203					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3608G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.907301	0.00512	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.1	-7.96	0.01144	.	0.685267	0.13461	N	0.386105	T	0.27765	0.0683	N	0.00595	-1.35	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0;0.0	T	0.48198	-0.9056	10	0.02654	T	1	.	7.4264	0.27102	0.1114:0.5947:0.1127:0.1811	rs55930959	1203;1162;1203;1203;1203;1203	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	1203;1203;1203;1203;907;1203;1156	ENSP00000350283:R1203Q;ENSP00000326002:R1203Q;ENSP00000246907:R1203Q;ENSP00000310938:R907Q;ENSP00000418960:R1203Q;ENSP00000418775:R1156Q	ENSP00000310938:R907Q	R	-	2	0	BRCA1	38497466	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.155000	0.10115	-1.621000	0.01562	-2.100000	0.00362	CGA		0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		T	41243940	C	T	41243940	3	4	96	1	0	0	0	0	1	0	0	0	1498	884	31	2	2109	2	BRCA1	17	41243940	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1277904	41243940	39951270	198	6567											
MYCBPAP	84073	broad.mit.edu	37	chr17	48597088	48597088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaagacaaaaactcagCgtggcctcatggagcccatc	13	6	9	13	1	2	2	2	1	0	1	3	3	2	3	3	2	3	0	3	2	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:48597088C>T	ENST00000323776.5	+	7	1147	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R292C|MYCBPAP_ENST00000468821.1_3'UTR	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAAACTCAGCGTGGCCTCAT	0.562																																						uc010wmr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(985-987)Cgt>Tgt		Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.							93	78	83					17																	48597088		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48597088C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.985C>T	17.37:g.48597088C>T	ENSP00000323184:p.Arg329Cys					MYCBPAP_uc002iqz.3_Non-coding_Transcript	p.R329C	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		6	1147	+	Breast(11;1.23e-18)		292						Missense_Mutation	SNP	ENST00000323776.5	37	c.985C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871758	0.33069	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.51574	0.7;0.7	5.45	3.47	0.39725	.	0.118680	0.56097	D	0.000036	T	0.40473	0.1118	L	0.52905	1.665	0.49798	D	0.999829	B;B	0.29805	0.12;0.257	B;B	0.22880	0.042;0.042	T	0.30208	-0.9986	10	0.49607	T	0.09	-1.2679	11.2799	0.49188	0.0:0.7946:0.0:0.2054	.	292;329	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	C	329;292	ENSP00000323184:R329C;ENSP00000397209:R292C	ENSP00000323184:R329C	R	+	1	0	MYCBPAP	45952087	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	0.966000	0.29331	0.786000	0.33708	-0.244000	0.11960	CGT		0.562	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		T	48597088	C	T	48597088	3	4	96	1	0	0	0	0	1	0	0	0	10019	768	27	1	1011	1	MYCBPAP	17	48597088	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7353148	48597088	32598122	199	6568											
AMZ2	51321	broad.mit.edu	37	chr17	66246475	66246475	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagtgatctctttggAcccattaccttgcattctcc	7	13	6	15	0	2	1	0	1	2	0	4	2	2	2	5	1	3	1	5	1	1	4	rs138991707		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:66246475A>G	ENST00000359904.3	+	2	1279	c.147A>G	c.(145-147)ggA>ggG	p.G49G	AMZ2_ENST00000580753.1_Silent_p.G49G|AMZ2_ENST00000577273.1_Silent_p.G49G|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000392720.2_Silent_p.G49G|AMZ2_ENST00000359783.4_Silent_p.G49G|AMZ2_ENST00000577985.1_Silent_p.G49G|AMZ2_ENST00000577866.1_Silent_p.G49G|RP11-147L13.2_ENST00000577698.1_RNA	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	49							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCTTTGGACCCATTACCT	0.458																																						uc002jgt.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(145-147)ggA>ggG		Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.							136	126	129					17																	66246475		2203	4300	6503	SO:0001819	synonymous_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66246475A>G	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.147A>G	17.37:g.66246475A>G						AMZ2_uc002jgs.1_Silent_p.G49G|AMZ2_uc002jgr.1_Silent_p.G49G|AMZ2_uc002jgu.1_Silent_p.G49G|AMZ2_uc002jgv.1_Silent_p.G49G|AMZ2_uc002jgw.1_Silent_p.G49G|AMZ2_uc002jgx.1_Silent_p.G49G|AMZ2_uc002jgy.1_Silent_p.G49G	p.G49G	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	292	+	all_cancers(12;1.12e-09)		49					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Silent	SNP	ENST00000359904.3	37	c.147A>G	CCDS11674.1																																																																																				0.458	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		G	66246475	A	G	66246475	2	3	96	1	0	0	0	0	0	0	0	1	597	262	10	4		4	AMZ2	17	66246475	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	17649387	66246475	14948735	200	6569											
QRICH2	84074	broad.mit.edu	37	chr17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttctccaagtcggtttggCcggcctgctcctcatccaga	5	12	9	15	2	3	1	1	0	2	1	7	1	5	1	5	3	1	2	5	3	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74287140C>T	ENST00000262765.5	-	4	3349	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1057										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTTTGGCCGGCCTGCTC	0.532																																						uc002jrd.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3169-3171)gGc>gAc		Homo sapiens glutamine rich 2 (QRICH2), mRNA.							104	98	100					17																	74287140		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287140C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3170G>A	17.37:g.74287140C>T	ENSP00000262765:p.Gly1057Asp					QRICH2_uc010dgw.1_Intron	p.G1057D	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			3	3350	-			1057					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3170G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530042	0.64860	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.50001	2.86;0.76	5.73	5.73	0.89815	.	.	.	.	.	T	0.53498	0.1800	N	0.20986	0.625	0.30470	N	0.773393	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.966	T	0.54043	-0.8352	9	0.51188	T	0.08	-8.9966	10.8835	0.46953	0.0:0.9145:0.0:0.0855	.	1057;1057	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	1057;65;1057	ENSP00000262765:G1057D;ENSP00000394461:G65D	ENSP00000262765:G1057D	G	-	2	0	QRICH2	71798735	0.059000	0.20769	0.615000	0.29064	0.014000	0.08584	1.025000	0.30090	2.712000	0.92718	0.555000	0.69702	GGC		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74287140	C	T	74287140	3	4	96	1	0	0	0	0	1	0	0	0	12880	739	26	3	1885	3	QRICH2	17	74287140	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8040665	74287140	6908070	201	6570											
UBE2O	63893	broad.mit.edu	37	chr17	74395033	74395033	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatcctgccacatcacGtcggctgaggtcatcgtggt	7	9	12	13	3	2	1	2	1	0	0	5	2	3	1	3	3	2	1	3	3	0	0	rs184947149	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74395033G>A	ENST00000319380.7	-	10	1732	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	556					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCCACATCACGTCGGCTGAGG	0.627													G|||	2	0.000399361	0.0015	0	5008	,	,		19435	0		0	False		,,,				2504	0					uc002jrm.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1666-1668)gaC>gaT		Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.							126	94	105					17																	74395033		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74395033G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1668C>T	17.37:g.74395033G>A						UBE2O_uc002jrn.4_Silent_p.D556D|UBE2O_uc002jrl.4_Silent_p.D159D	p.D556D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			9	1733	-			556					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.1668C>T	CCDS32742.1																																																																																				0.627	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		A	74395033	G	A	74395033	2	1	96	1	0	0	0	0	0	0	0	1	16865	1136	40	1		1	UBE2O	17	74395033	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	107893	74395033	6800177	202	6571											
AATK	9625	broad.mit.edu	37	chr17	79094804	79094804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagggaggtggagagccGtgtctcgggcccggggccct	5	6	19	11	3	1	2	0	1	1	1	2	4	1	3	3	6	1	0	3	6	0	0	rs368177200		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79094804G>A	ENST00000326724.4	-	11	2956	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	AATK_ENST00000417379.1_Missense_Mutation_p.R875W	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGAGAGCCGTGTCTCGGGC	0.652																																						uc010dia.3																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(2932-2934)Cgg>Tgg		Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	0,3818		0,0,1909	20	24	23		2932,2623	2.5	0	17		23	1,8209		0,1,4104	no	missense,missense	AATK	NM_001080395.2,NM_004920.2	101,101	0,1,6013	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	978/1375,875/1272	79094804	1,12027	1909	4105	6014	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094804G>A	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2932C>T	17.37:g.79094804G>A	ENSP00000324196:p.Arg978Trp					AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.R875W	p.R978W	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		10	3012	-	all_neural(118;0.101)		978					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2932C>T	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770502	0.31320	0.0	1.22E-4	ENSG00000181409	ENST00000326724	T	0.78924	-1.22	4.67	2.52	0.30459	.	2.165000	0.02003	N	0.046413	T	0.76933	0.4057	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	B	0.43575	0.424	T	0.64728	-0.6339	10	0.52906	T	0.07	.	9.855	0.41079	0.0:0.131:0.606:0.263	.	978	Q6ZMQ8	LMTK1_HUMAN	W	978	ENSP00000324196:R978W	ENSP00000324196:R978W	R	-	1	2	AATK	76709399	0.000000	0.05858	0.036000	0.18154	0.160000	0.22226	0.402000	0.20965	1.155000	0.42497	0.462000	0.41574	CGG		0.652	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		A	79094804	G	A	79094804	3	1	96	1	0	0	0	0	1	0	0	0	26	1144	40	1	1208	1	AATK	17	79094804	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4699771	79094804	2100406	203	6572											
NPLOC4	55666	broad.mit.edu	37	chr17	79556036	79556036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagccaagctccggggcGtccttgcatggcagcaaaca	9	6	13	13	3	0	0	0	0	0	0	2	0	2	0	3	3	5	5	3	3	3	2	rs372434085		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79556036G>A	ENST00000331134.6	-	12	1430	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	NPLOC4_ENST00000539314.1_Silent_p.D244D|NPLOC4_ENST00000374747.5_Silent_p.D405D	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	405					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTCCGGGGCGTCCTTGCATG	0.493																																						uc002kau.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1213-1215)gaC>gaT		Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.		G		0,4146		0,0,2073	95	99	98		1215	-10.3	0.5	17		98	1,8443		0,1,4221	no	coding-synonymous	NPLOC4	NM_017921.2		0,1,6294	AA,AG,GG		0.0118,0.0,0.0079		405/609	79556036	1,12589	2073	4222	6295	SO:0001819	synonymous_variant	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79556036G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1215C>T	17.37:g.79556036G>A						NPLOC4_uc002kat.4_Silent_p.D405D|NPLOC4_uc010wur.1_Silent_p.D244D	p.D405D	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		11	1397	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		405					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	c.1215C>T	CCDS45812.1																																																																																				0.493	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			A	79556036	G	A	79556036	2	1	96	1	0	0	0	0	0	0	0	1	10586	1136	40	1		1	NPLOC4	17	79556036	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	461232	79556036	1639174	204	6573											
ARHGDIA	396	broad.mit.edu	37	chr17	79826780	79826780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtccttcttgatggtgAgattccactcccaggacagg	8	11	10	12	0	1	2	0	2	1	1	5	4	5	3	4	3	0	0	4	3	0	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79826780A>C	ENST00000269321.7	-	6	722	c.587T>G	c.(586-588)cTc>cGc	p.L196R	ARHGDIA_ENST00000580685.1_Missense_Mutation_p.L196R|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.L152R|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.L196R|ARHGDIA_ENST00000581876.1_Missense_Mutation_p.L121R|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000584461.1_Intron|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	196					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTGATGGTGAGATTCCACTC	0.642																																						uc021uff.1																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(586-588)cTc>cGc		Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.							89	78	81					17																	79826780		2203	4300	6503	SO:0001583	missense	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79826780A>C	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.587T>G	17.37:g.79826780A>C	ENSP00000269321:p.Leu196Arg					AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_Missense_Mutation_p.L196R|ARHGDIA_uc021ufg.1_Missense_Mutation_p.L152R|ARHGDIA_uc010dig.2_Non-coding_Transcript	p.L196R	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	893	-	all_neural(118;0.0878)|Ovarian(332;0.12)		196					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	ENST00000269321.7	37	c.587T>G	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810749	0.90707	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.44	4.44	0.53790	Immunoglobulin E-set (1);	0.145893	0.47455	D	0.000230	T	0.80919	0.4716	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84852	0.0814	9	0.87932	D	0	-32.4548	13.8536	0.63513	1.0:0.0:0.0:0.0	.	196	P52565	GDIR1_HUMAN	R	196;196;170	.	ENSP00000269321:L196R	L	-	2	0	ARHGDIA	77420069	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.485000	0.90448	1.848000	0.53677	0.460000	0.39030	CTC		0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		C	79826780	A	C	79826780	3	2	96	1	0	0	0	0	1	0	0	0	890	304	11	5	31	5	ARHGDIA	17	79826780	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	270744	79826780	1368430	205	6574											
MC2R	4158	broad.mit.edu	37	chr18	13885086	13885086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaccacagtgcggcgCatggtcacgatgctgtggta	9	7	13	12	3	1	0	1	0	0	0	1	1	1	0	2	3	3	4	2	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:13885086C>T	ENST00000327606.3	-	2	612	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	144					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGTGCGGCGCATGGTCACGA	0.577																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(430-432)atG>atA		Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	Corticotropin(DB01285)|Cosyntropin(DB01284)						119	94	102					18																	13885086		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885086C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.432G>A	18.37:g.13885086C>T	ENSP00000333821:p.Met144Ile					MC2R_uc021uhs.1_Missense_Mutation_p.M144I	p.M144I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			1	609	-			144					A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.432G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694006	0.48202	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.71461	-0.57	5.28	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.294995	0.40818	N	0.001011	T	0.61286	0.2335	L	0.38692	1.165	0.33380	D	0.574678	B	0.24092	0.097	B	0.30716	0.119	T	0.67684	-0.5607	10	0.52906	T	0.07	.	9.2384	0.37481	0.0:0.7738:0.0:0.2262	.	144	Q01718	ACTHR_HUMAN	I	144	ENSP00000333821:M144I	ENSP00000333821:M144I	M	-	3	0	MC2R	13875086	0.930000	0.31532	0.998000	0.56505	0.888000	0.51559	1.300000	0.33436	1.228000	0.43614	0.655000	0.94253	ATG		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			T	13885086	C	T	13885086	3	4	96	1	0	0	0	0	1	0	0	0	9364	710	25	3	465	3	MC2R	18	13885086	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		13885086	64192162	206	6575											
NPC1	4864	broad.mit.edu	37	chr18	21119357	21119357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcagtgatattgtccactCgacagcaagacgactgtggc	10	9	12	10	2	1	2	1	1	0	1	3	4	2	2	1	2	1	1	1	2	2	2	rs120074132		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119357C>T	ENST00000269228.5	-	19	3427	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	NPC1_ENST00000412552.2_Missense_Mutation_p.R640Q|NPC1_ENST00000540608.1_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	958			R -> L (in NPC1). {ECO:0000269|PubMed:11754101}.|R -> Q (in NPC1). {ECO:0000269|PubMed:11349231}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTGTCCACTCGACAGCAAGA	0.448																																						uc002kum.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	GRCh37	CM015186|CM020045	NPC1	M	rs120074132	c.(2872-2874)cGa>cAa		Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	81	75	77	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2873	5.2	0	18	dbSNP_132	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPC1	NM_000271.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	958/1279	21119357	1,13005	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21119357C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2873G>A	18.37:g.21119357C>T	ENSP00000269228:p.Arg958Gln					NPC1_uc010xaz.2_Missense_Mutation_p.R691Q	p.R958Q	NM_000271	NP_000262	O15118	NPC1_HUMAN			18	3147	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		958		R -> L (in NPC1).|R -> Q (in NPC1).			B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2873G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025723	0.75390	0.0	1.16E-4	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.94000	-3.33;-3.33	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.92459	3.31	0.80722	A	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.96;0.975	D	0.96531	0.9393	9	0.28530	T	0.3	-17.6819	19.2096	0.93748	0.0:1.0:0.0:0.0	.	969;958	Q59GR1;O15118	.;NPC1_HUMAN	Q	958;640	ENSP00000269228:R958Q;ENSP00000408606:R640Q	ENSP00000269228:R958Q	R	-	2	0	NPC1	19373355	1.000000	0.71417	0.011000	0.14972	0.008000	0.06430	7.682000	0.84083	2.604000	0.88044	0.655000	0.94253	CGA		0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		T	21119357	C	T	21119357	3	4	96	1	0	0	0	0	1	0	0	0	10570	884	31	2	991	2	NPC1	18	21119357	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7234271	21119357	56957891	207	6576											
NPC1	4864	broad.mit.edu	37	chr18	21119839	21119839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattgttgcagcccatgcCgccgcacaccatgttctgcc	7	10	8	16	2	2	0	1	0	1	0	2	0	2	0	5	0	4	4	5	0	0	3	rs34302553	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119839C>T	ENST00000269228.5	-	18	3285	c.2731G>A	c.(2731-2733)Ggc>Agc	p.G911S	NPC1_ENST00000412552.2_Missense_Mutation_p.G593S|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	911					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGCCCATGCCGCCGCACACC	0.547													C|||	13	0.00259585	0.0091	0	5008	,	,		18216	0		0.001	False		,,,				2504	0					uc002kum.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2731-2733)Ggc>Agc		Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.		C	SER/GLY	59,4347	56.8+/-93.2	1,57,2145	92	87	88		2731	5.5	1	18	dbSNP_126	88	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NPC1	NM_000271.4	56	1,61,6441	TT,TC,CC		0.0465,1.3391,0.4844	benign	911/1279	21119839	63,12943	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21119839C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2731G>A	18.37:g.21119839C>T	ENSP00000269228:p.Gly911Ser					NPC1_uc010xaz.2_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	p.G911S	NM_000271	NP_000262	O15118	NPC1_HUMAN			17	3005	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		911					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2731G>A	CCDS11878.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.300247	0.95574	0.013391	4.65E-4	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	L	0.37507	1.11	0.80722	D	1	P;P	0.48016	0.873;0.904	B;B	0.38954	0.252;0.286	D	0.86630	0.1885	10	0.25106	T	0.35	-33.0786	19.7885	0.96447	0.0:1.0:0.0:0.0	rs34302553	922;911	Q59GR1;O15118	.;NPC1_HUMAN	S	911;593;756	ENSP00000269228:G911S;ENSP00000408606:G593S	ENSP00000269228:G911S	G	-	1	0	NPC1	19373837	1.000000	0.71417	0.975000	0.42487	0.964000	0.63967	7.771000	0.85420	2.752000	0.94435	0.655000	0.94253	GGC		0.547	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		T	21119839	C	T	21119839	3	4	96	1	0	0	0	0	1	0	0	0	10570	652	23	2	1137	2	NPC1	18	21119839	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	482	21119839	56957409	208	6577											
NPC1	4864	broad.mit.edu	37	chr18	21136387	21136387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcctggctgctgggggcTgaccagaggtcaactggatt	7	8	16	10	1	1	2	1	1	0	1	1	4	1	3	2	5	3	3	2	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21136387T>C	ENST00000269228.5	-	8	1700	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	NPC1_ENST00000412552.2_Silent_p.S132S|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	382					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTGGGGGCTGACCAGAGGT	0.567																																						uc002kum.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1144-1146)tcA>tcG		Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.							50	51	50					18																	21136387		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136387T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1146A>G	18.37:g.21136387T>C						NPC1_uc010xaz.2_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	p.S382S	NM_000271	NP_000262	O15118	NPC1_HUMAN			7	1420	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		382					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.1146A>G	CCDS11878.1																																																																																				0.567	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		C	21136387	T	C	21136387	2	2	96	1	0	0	0	0	0	0	0	1	10570	1567	55	4		4	NPC1	18	21136387	Silent	SNP	T	TCGA-06-5858-01A-01D-1696-08	16548	21136387	56940861	209	6578											
DSG1	1828	broad.mit.edu	37	chr18	28908192	28908192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagcaagttacataccGcatctctggagtaggaattg	14	9	9	9	1	1	0	0	0	1	0	2	2	1	2	2	2	4	4	2	2	6	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:28908192G>A	ENST00000257192.4	+	4	469	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.R86H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTACATACCGCATCTCTGGA	0.373																																						uc002kwp.3																			1	Substitution - Missense(1)	p.R86H(2)	large_intestine(1)	NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(256-258)cGc>cAc		Homo sapiens desmoglein 1 (DSG1), mRNA.							96	93	94					18																	28908192		2203	4299	6502	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28908192G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.257G>A	18.37:g.28908192G>A	ENSP00000257192:p.Arg86His						p.R86H	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		3	469	+			86			Cadherin 1.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.257G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138491	0.77775	.	.	ENSG00000134760	ENST00000257192	T	0.53640	0.61	5.59	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.309404	0.28595	N	0.014796	T	0.43590	0.1254	L	0.43152	1.355	0.80722	D	1	P	0.47910	0.902	P	0.45406	0.479	T	0.39187	-0.9626	10	0.54805	T	0.06	.	9.8534	0.41070	0.0732:0.1397:0.7871:0.0	.	86	Q02413	DSG1_HUMAN	H	86	ENSP00000257192:R86H	ENSP00000257192:R86H	R	+	2	0	DSG1	27162190	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.536000	0.45693	1.357000	0.45904	0.563000	0.77884	CGC		0.373	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28908192	G	A	28908192	3	1	96	1	0	0	0	0	1	0	0	0	4776	1087	38	1	271	1	DSG1	18	28908192	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	7771805	28908192	49169056	210	6579											
KIAA1012	22878	broad.mit.edu	37	chr18	29447379	29447379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattaccacttttgattcttCgccattaattaagaactctg	12	16	4	9	1	2	2	0	1	2	1	3	2	2	2	2	0	2	0	2	0	5	7			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:29447379C>T	ENST00000283351.4	-	17	2784	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E763K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	817					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.E817K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGATTCTTCGCCATTAATT	0.259																																						uc002kxc.4																			1	Substitution - Missense(1)	p.E817K(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2449-2451)Gaa>Aaa		Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.							47	49	49					18																	29447379		2201	4284	6485	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29447379C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2449G>A	18.37:g.29447379C>T	ENSP00000283351:p.Glu817Lys					TRAPPC8_uc002kxb.4_Missense_Mutation_p.E763K|TRAPPC8_uc002kxd.4_Non-coding_Transcript	p.E817K	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			16	2813	-			817					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2449G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698095	0.48307	.	.	ENSG00000153339	ENST00000283351	T	0.09073	3.02	5.49	5.49	0.81192	.	0.047167	0.85682	D	0.000000	T	0.08670	0.0215	M	0.65975	2.015	0.80722	D	1	P	0.44429	0.835	B	0.28465	0.09	T	0.29458	-1.0011	10	0.06494	T	0.89	.	18.9582	0.92668	0.0:1.0:0.0:0.0	.	817	Q9Y2L5	TPPC8_HUMAN	K	817	ENSP00000283351:E817K	ENSP00000283351:E817K	E	-	1	0	TRAPPC8	27701377	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.926000	0.70070	2.587000	0.87381	0.585000	0.79938	GAA		0.259	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		T	29447379	C	T	29447379	3	4	96	1	0	0	0	0	1	0	0	0	8204	893	31	2	1910	2	KIAA1012	18	29447379	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	539187	29447379	48629869	211	6580											
RNF165	494470	broad.mit.edu	37	chr18	44036518	44036518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctctttcaccaactgtgCgtggaccagtggctcgccat	7	11	9	14	2	2	0	1	0	1	0	4	1	2	1	3	2	2	1	3	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44036518C>T	ENST00000269439.7	+	8	1011	c.960C>T	c.(958-960)tgC>tgT	p.C320C	RNF165_ENST00000543885.1_Silent_p.C128C	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	320							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ACCAACTGTGCGTGGACCAGT	0.587																																						uc002lcb.1																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(958-960)tgC>tgT		Homo sapiens ring finger protein 165 (RNF165), mRNA.							121	112	115					18																	44036518		2203	4300	6503	SO:0001819	synonymous_variant	494470						zinc ion binding	g.chr18:44036518C>T	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.960C>T	18.37:g.44036518C>T						RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	p.C320C	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	7	1011	+			320					B3KVD1	Silent	SNP	ENST00000269439.7	37	c.960C>T	CCDS32823.1																																																																																				0.587	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		T	44036518	C	T	44036518	2	4	96	1	0	0	0	0	0	0	0	1	13456	776	27	1		1	RNF165	18	44036518	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	14589139	44036518	34040730	212	6581											
TCEB3C	162699	broad.mit.edu	37	chr18	44554670	44554670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggttttgtccgcgggcGccgcgtgccggttgctgctg	0	12	17	12	7	0	0	0	0	0	0	2	0	1	0	3	3	3	4	3	3	0	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44554670G>A	ENST00000330682.2	-	1	1779	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTccgcgggcgccgcgtgccg	0.672																																						uc010xdb.2																			0		p.A515A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1543-1545)gCg>gTg		Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.							2	1	1					18																	44554670		463	889	1352	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554670G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1544C>T	18.37:g.44554670G>A	ENSP00000328232:p.Ala515Val					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.A515V	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			0	1780	-			515						Missense_Mutation	SNP	ENST00000330682.2	37	c.1544C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	11.13	1.546973	0.27652	.	.	ENSG00000183791	ENST00000330682	T	0.13778	2.56	1.55	-0.338	0.12651	.	15.382800	0.00760	U	0.001137	T	0.10121	0.0248	L	0.27053	0.805	0.09310	N	1	B	0.21071	0.051	B	0.04013	0.001	T	0.24764	-1.0151	10	0.35671	T	0.21	-4.9544	4.5184	0.11947	0.3824:0.0:0.6176:0.0	.	515	Q8NG57	ELOA3_HUMAN	V	515	ENSP00000328232:A515V	ENSP00000328232:A515V	A	-	2	0	TCEB3C	42808668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-0.145000	0.11294	-0.663000	0.03849	GCG		0.672	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		A	44554670	G	A	44554670	3	1	96	1	0	0	0	0	1	0	0	0	15680	1087	38	1	1743	1	TCEB3C	18	44554670	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	518152	44554670	33522578	213	6582											
MAPK4	5596	broad.mit.edu	37	chr18	48252336	48252336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttgctccctgcagccatCgactttctggagaagatcct	7	12	9	13	1	1	2	0	0	1	2	4	4	3	2	3	1	3	3	3	1	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:48252336C>T	ENST00000400384.2	+	5	1894	c.858C>T	c.(856-858)atC>atT	p.I286I	MAPK4_ENST00000540640.1_Silent_p.I75I|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCAGCCATCGACTTTCTGG	0.542																																						uc002lev.3																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(856-858)atC>atT		Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.							106	111	110					18																	48252336		1997	4170	6167	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252336C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.858C>T	18.37:g.48252336C>T						MAPK4_uc010xdm.2_Silent_p.I75I|MAPK4_uc010doz.3_Intron	p.I286I	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	4	1858	+		Colorectal(6;0.0297)	286			Protein kinase.		A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.858C>T	CCDS42437.1																																																																																				0.542	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		T	48252336	C	T	48252336	2	4	96	1	0	0	0	0	0	0	0	1	9280	874	31	2		2	MAPK4	18	48252336	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	3697666	48252336	29824912	214	6583											
KCNG2	26251	broad.mit.edu	37	chr18	77624216	77624216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttcgcctgcgtgtcCgtgtccttcgtggccgtcac	3	12	11	15	5	2	0	1	0	1	0	6	0	4	0	4	1	2	1	4	1	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:77624216C>T	ENST00000316249.3	+	1	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	183					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCGTGTCCGTGTCCTTCG	0.766																																						uc010xfl.2																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(547-549)tcC>tcT		Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.							17	16	16					18																	77624216		1955	3928	5883	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624216C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.549C>T	18.37:g.77624216C>T							p.S183S	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	0	549	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	183						Silent	SNP	ENST00000316249.3	37	c.549C>T	CCDS12019.1																																																																																				0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		T	77624216	C	T	77624216	2	4	96	1	0	0	0	0	0	0	0	1	8028	639	23	2		2	KCNG2	18	77624216	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	29371880	77624216	453032	215	6584											
LPPR3	79948	broad.mit.edu	37	chr19	813085	813085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccttggggcccggcgCgcccggagccttggacatgg	3	5	18	15	5	0	0	0	0	0	0	0	2	0	2	5	7	1	0	5	7	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:813085C>T	ENST00000520876.3	-	8	1720	c.1642G>A	c.(1642-1644)Gcg>Acg	p.A548T	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.A576T	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		548						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GGGCCCGGCGCGCCCGGAGCC	0.726																																						uc002lpw.1																			0											c.(1726-1728)Gcg>Acg		Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.							3	4	4					19																	813085		1545	3386	4931	SO:0001583	missense	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:813085C>T																												ENST00000520876.3:c.1642G>A	19.37:g.813085C>T	ENSP00000430297:p.Ala548Thr					LPPR3_uc021ulz.1_Missense_Mutation_p.A184T|LPPR3_uc002lpx.1_Missense_Mutation_p.A548T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|MIR3187_uc021uma.1_5'Flank	p.A576T	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN			6	1790	-			548					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.1726G>A	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	c	5.586	0.292898	0.10567	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876	T;T	0.22945	1.93;1.93	4.09	1.73	0.24493	.	1.813570	0.03633	U	0.238190	T	0.12178	0.0296	N	0.08118	0	0.09310	N	0.999999	B;P	0.39696	0.226;0.683	B;B	0.27887	0.043;0.084	T	0.17289	-1.0374	10	0.40728	T	0.16	-19.361	8.6337	0.33935	0.0:0.7487:0.1559:0.0954	.	548;576	Q6T4P5;Q6T4P5-3	LPPR3_HUMAN;.	T	549;576;548	ENSP00000352962:A576T;ENSP00000430297:A548T	ENSP00000300947:A549T	A	-	1	0	AC006273.1	764085	0.000000	0.05858	0.264000	0.24511	0.473000	0.32948	-0.029000	0.12329	1.835000	0.53391	0.282000	0.19409	GCG		0.726	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			T	813085	C	T	813085	3	4	96	1	0	0	0	0	1	0	0	0	8926	768	27	1	518	1	LPPR3	19	813085	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		813085	58315898	216	6585											
MLLT1	4298	broad.mit.edu	37	chr19	6222504	6222504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaaggcagccttgggCggtggcgccttctcctcctt	3	12	12	14	2	1	1	0	1	1	0	4	1	3	1	5	4	1	1	5	4	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:6222504C>T	ENST00000252674.7	-	6	901	c.738G>A	c.(736-738)ccG>ccA	p.P246P		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	246					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CAGCCTTGGGCGGTGGCGCCT	0.672			T	MLL	AL																																	uc002mek.3				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(736-738)ccG>ccA		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.							29	29	29					19																	6222504		2202	4300	6502	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222504C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.738G>A	19.37:g.6222504C>T							p.P246P	NM_005934	NP_005925	Q03111	ENL_HUMAN			5	902	-			246					Q14768	Silent	SNP	ENST00000252674.7	37	c.738G>A	CCDS12160.1																																																																																				0.672	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		T	6222504	C	T	6222504	2	4	96	1	0	0	0	0	0	0	0	1	9625	755	27	1		1	MLLT1	19	6222504	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	5409419	6222504	52906479	217	6586											
MUC16	94025	broad.mit.edu	37	chr19	9008202	9008202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagactgttccggtccaggGtgtaggggcccagctctttg	6	10	15	10	1	1	1	0	0	1	1	3	2	3	1	3	4	1	3	3	4	1	3	rs545351585		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:9008202G>A	ENST00000397910.4	-	41	39553	c.39350C>T	c.(39349-39351)aCc>aTc	p.T13117I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13119	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCGGTCCAGGGTGTAGGGGCC	0.547																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39349-39351)aCc>aTc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							209	191	197					19																	9008202		2022	4186	6208	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9008202G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39350C>T	19.37:g.9008202G>A	ENSP00000381008:p.Thr13117Ile					MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	p.T13117I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			40	39554	-			13119			SEA 7.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39350C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.925	1.213348	0.22289	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.18502	2.21	1.82	-0.668	0.11392	.	.	.	.	.	T	0.18173	0.0436	M	0.79693	2.465	.	.	.	P	0.38370	0.628	B	0.36244	0.22	T	0.21008	-1.0258	8	0.87932	D	0	.	2.928	0.05791	0.1979:0.2961:0.506:0.0	.	13117	B5ME49	.	I	13117;270	ENSP00000381008:T13117I	ENSP00000381008:T13117I	T	-	2	0	MUC16	8869202	0.212000	0.23540	0.246000	0.24233	0.034000	0.12701	0.243000	0.18106	-0.092000	0.12417	0.195000	0.17529	ACC		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9008202	G	A	9008202	3	1	96	1	0	0	0	0	1	0	0	0	9973	1261	44	3	4349	3	MUC16	19	9008202	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2785698	9008202	50120781	218	6587											
DNM2	1785	broad.mit.edu	37	chr19	10886407	10886407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccctcatcgacctcccGggtatcaccaaggtgcctgt	7	10	9	15	2	2	1	2	1	0	0	4	2	3	1	5	2	1	1	5	2	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:10886407G>A	ENST00000355667.6	+	4	494	c.414G>A	c.(412-414)ccG>ccA	p.P138P	DNM2_ENST00000389253.4_Silent_p.P138P|DNM2_ENST00000314646.5_Silent_p.P138P|DNM2_ENST00000359692.6_Silent_p.P138P|DNM2_ENST00000585892.1_Silent_p.P138P|DNM2_ENST00000408974.4_Silent_p.P138P|DNM2_ENST00000591819.1_3'UTR	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	138	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGACCTCCCGGGTATCACCA	0.587			"F, N, Splice, Mis, O"		ETP ALL																																	uc002mpt.2				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(412-414)ccG>ccA		Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.							208	208	208					19																	10886407		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10886407G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.414G>A	19.37:g.10886407G>A						DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.P138P|DNM2_uc010dxl.2_Silent_p.P138P|DNM2_uc002mpu.2_Silent_p.P138P|DNM2_uc002mpv.2_Silent_p.P138P	p.P138P	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		3	604	+			138					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.414G>A	CCDS45968.1																																																																																				0.587	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		A	10886407	G	A	10886407	2	1	96	1	0	0	0	0	0	0	0	1	4672	1103	39	2		2	DNM2	19	10886407	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1878205	10886407	48242576	219	6588											
CARM1	10498	broad.mit.edu	37	chr19	11018751	11018751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatcctgaaaacctgccGgggccacaccctggagcggt	10	5	11	15	2	0	1	0	1	0	0	1	2	1	2	5	4	4	0	5	4	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:11018751G>A	ENST00000327064.4	+	3	573	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	CARM1_ENST00000344150.4_Missense_Mutation_p.R128Q	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	128					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AAAACCTGCCGGGGCCACACC	0.617																																						uc002mpz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(382-384)cGg>cAg		Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.							120	116	117					19																	11018751		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11018751G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.383G>A	19.37:g.11018751G>A	ENSP00000325690:p.Arg128Gln					CARM1_uc010dxn.3_Non-coding_Transcript	p.R128Q	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			2	509	+			128					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.383G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828613	0.71258	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.26810	1.72;1.71	5.43	4.4	0.53042	Histone-arginine methyltransferase CARM1, N-terminal (1);	0.062930	0.64402	D	0.000003	T	0.14743	0.0356	N	0.17082	0.46	0.54753	D	0.999989	B	0.34329	0.449	B	0.28553	0.091	T	0.08289	-1.0729	10	0.27785	T	0.31	-4.7855	13.3439	0.60561	0.078:0.0:0.922:0.0	.	128	Q86X55	CARM1_HUMAN	Q	128	ENSP00000325690:R128Q;ENSP00000340934:R128Q	ENSP00000325690:R128Q	R	+	2	0	CARM1	10879751	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.903000	0.69877	1.424000	0.47217	0.563000	0.77884	CGG		0.617	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		A	11018751	G	A	11018751	3	1	96	1	0	0	0	0	1	0	0	0	2655	1116	39	2	393	2	CARM1	19	11018751	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	132344	11018751	48110232	220	6589											
MAST1	22983	broad.mit.edu	37	chr19	12975736	12975736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcacaactatggcatcGtgcaccgcgacctcaagcct	10	9	8	14	3	1	0	1	0	0	0	2	1	1	0	3	1	4	3	3	1	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:12975736G>A	ENST00000251472.4	+	13	1519	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTATGGCATCGTGCACCGCGA	0.572																																						uc002mvm.3																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1480-1482)Gtg>Atg		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							148	133	138					19																	12975736		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975736G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1480G>A	19.37:g.12975736G>A	ENSP00000251472:p.Val494Met						p.V494M	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			12	1608	+			494			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1480G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448600	0.84101	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29655	1.56	4.39	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.51449	0.1675	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55496	-0.8132	10	0.87932	D	0	-27.1966	14.8264	0.70117	0.0:0.0:1.0:0.0	.	494	Q9Y2H9	MAST1_HUMAN	M	494	ENSP00000251472:V494M	ENSP00000251472:V494M	V	+	1	0	MAST1	12836736	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.181000	0.69327	0.561000	0.74099	GTG		0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		A	12975736	G	A	12975736	3	1	96	1	0	0	0	0	1	0	0	0	9324	1145	40	1	1530	1	MAST1	19	12975736	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1956985	12975736	46153247	221	6590											
TRMT1	55621	broad.mit.edu	37	chr19	13216154	13216154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttccggcggctccttcCgcttgttctgaagcagcctg	4	12	10	15	3	2	1	0	1	2	0	5	1	5	1	4	2	2	4	4	2	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:13216154C>T	ENST00000592062.1	-	17	2330	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	TRMT1_ENST00000357720.4_Missense_Mutation_p.R587Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.R587Q|TRMT1_ENST00000221504.8_Missense_Mutation_p.R558Q|LYL1_ENST00000264824.4_5'Flank			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	587							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGCTCCTTCCGCTTGTTCTG	0.622											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mwj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1759-1761)cGg>cAg		Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.							52	56	55					19																	13216154		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216154C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1760G>A	19.37:g.13216154C>T	ENSP00000466967:p.Arg587Gln		OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	p.R587Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	14	2010	-			587					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1760G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883332	0.51908	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	L	0.60455	1.87	0.41941	D	0.990612	D;P	0.58970	0.984;0.809	P;B	0.47118	0.538;0.184	T	0.63690	-0.6580	9	0.45353	T	0.12	-18.2733	14.4501	0.67379	0.0:1.0:0.0:0.0	.	558;587	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	587;587;558	.	ENSP00000221504:R558Q	R	-	2	0	TRMT1	13077154	0.997000	0.39634	0.946000	0.38457	0.064000	0.16182	6.417000	0.73337	2.264000	0.75181	0.462000	0.41574	CGG		0.622	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		T	13216154	C	T	13216154	3	4	96	1	0	0	0	0	1	0	0	0	16558	652	23	2	227	2	TRMT1	19	13216154	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	240418	13216154	45912829	222	6591											
IL27RA	9466	broad.mit.edu	37	chr19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgaagatgtcaggaggCggcctggaccctggtgagtg	8	7	16	10	2	1	2	1	1	0	1	1	5	1	4	3	5	1	0	3	5	2	1	rs201794701		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:14150709C>T	ENST00000263379.2	+	4	646	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	174	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCAGGAGGCGGCCTGGACC	0.592													C|||	1	0.000199681	0	0	5008	,	,		15701	0.001		0	False		,,,				2504	0				Colon(164;1849 1896 4443 37792 47834)	uc002mxx.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(520-522)gCg>gTg		Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96	93	94		521	-8.1	0	19		94	0,8600		0,0,4300	no	missense	IL27RA	NM_004843.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	174/637	14150709	1,13005	2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150709C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.521C>T	19.37:g.14150709C>T	ENSP00000263379:p.Ala174Val						p.A174V	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			3	944	+			174			Fibronectin type-III 1.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.521C>T	CCDS12303.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.394	0.257867	0.10239	2.27E-4	0.0	ENSG00000104998	ENST00000263379	T	0.56103	0.48	4.04	-8.09	0.01090	Fibronectin, type III (3);Immunoglobulin-like fold (1);	3.465760	0.00896	N	0.002286	T	0.24586	0.0596	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	10	0.22706	T	0.39	-3.4515	6.2433	0.20803	0.2989:0.5213:0.0804:0.0994	.	174	Q6UWB1	I27RA_HUMAN	V	174	ENSP00000263379:A174V	ENSP00000263379:A174V	A	+	2	0	IL27RA	14011709	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-3.123000	0.00594	-3.695000	0.00119	-0.474000	0.04947	GCG		0.592	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		T	14150709	C	T	14150709	3	4	96	1	0	0	0	0	1	0	0	0	7681	768	27	1	535	1	IL27RA	19	14150709	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	934555	14150709	44978274	223	6592											
SLC27A1	376497	broad.mit.edu	37	chr19	17612106	17612106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtaaggcagggatggCggccgtcgcagacccccaca	9	3	17	12	3	0	1	0	0	0	1	1	3	0	3	3	6	0	3	3	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:17612106C>T	ENST00000252595.7	+	11	1758	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	SLC27A1_ENST00000598424.1_Missense_Mutation_p.A375V|SLC27A1_ENST00000598848.1_Intron|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A554V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	554					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGGGATGGCGGCCGTCGCA	0.647																																						uc002ngu.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1660-1662)gCg>gTg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.							40	42	42					19																	17612106		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17612106C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1661C>T	19.37:g.17612106C>T	ENSP00000252595:p.Ala554Val					SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	p.A554V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			10	1711	+			554					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1661C>T	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743538	0.69418	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.72394	-0.65;-0.65	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.969	D	0.85227	0.1030	10	0.54805	T	0.06	-16.4675	15.0241	0.71653	0.0:1.0:0.0:0.0	.	375;554	B7Z662;Q6PCB7	.;S27A1_HUMAN	V	554	ENSP00000413424:A554V;ENSP00000252595:A554V	ENSP00000252595:A554V	A	+	2	0	SLC27A1	17473106	1.000000	0.71417	0.925000	0.36789	0.069000	0.16628	7.381000	0.79718	2.129000	0.65627	0.561000	0.74099	GCG		0.647	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		T	17612106	C	T	17612106	3	4	96	1	0	0	0	0	1	0	0	0	14525	768	27	1	1703	1	SLC27A1	19	17612106	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3461397	17612106	41516877	224	6593											
NCAN	1463	broad.mit.edu	37	chr19	19356151	19356151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggcgagagaaccagccGgacaatttcttcgcgggtgg	10	7	14	10	4	1	1	0	0	1	1	2	4	1	2	2	4	3	0	2	4	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:19356151G>A	ENST00000252575.6	+	13	3621	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_ENST00000538881.1_Silent_p.P625P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGAACCAGCCGGACAATTTCT	0.572																																						uc002nlz.3																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3520-3522)ccG>ccA		Homo sapiens neurocan (NCAN), mRNA.							108	94	99					19																	19356151		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356151G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3522G>A	19.37:g.19356151G>A						NCAN_uc002nma.3_Intron	p.P1174P	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		12	3621	+			1174			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3522G>A	CCDS12397.1																																																																																				0.572	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19356151	G	A	19356151	2	1	96	1	0	0	0	0	0	0	0	1	10204	1103	39	2		2	NCAN	19	19356151	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1744045	19356151	39772832	225	6594											
NPHS1	4868	broad.mit.edu	37	chr19	36340484	36340484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgaatgaggccttgatgGgggcctccagtgctgggcta	6	9	17	9	1	0	3	0	3	0	0	1	3	1	3	3	5	1	2	3	5	2	2	rs202046128		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:36340484G>A	ENST00000378910.5	-	6	679	c.680C>T	c.(679-681)cCc>cTc	p.P227L	NPHS1_ENST00000353632.6_Missense_Mutation_p.P227L|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCTTGATGGGGGCCTCCAG	0.587																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(679-681)cCc>cTc		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							80	75	77					19																	36340484		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340484G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.680C>T	19.37:g.36340484G>A	ENSP00000368190:p.Pro227Leu						p.P227L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	836	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		227			Ig-like C2-type 2.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.680C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122057	0.77436	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86562	-2.14;-2.14	5.53	5.53	0.82687	Immunoglobulin-like fold (1);	0.116625	0.64402	D	0.000016	D	0.91862	0.7424	L	0.59436	1.845	0.54753	D	0.999988	D	0.71674	0.998	D	0.68621	0.959	D	0.92143	0.5722	10	0.62326	D	0.03	-21.3497	16.9419	0.86220	0.0:0.0:1.0:0.0	.	227	O60500	NPHN_HUMAN	L	227	ENSP00000368190:P227L;ENSP00000343634:P227L	ENSP00000343634:P227L	P	-	2	0	NPHS1	41032324	1.000000	0.71417	0.989000	0.46669	0.716000	0.41182	5.897000	0.69831	2.607000	0.88179	0.591000	0.81541	CCC		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36340484	G	A	36340484	3	1	96	1	0	0	0	0	1	0	0	0	10582	1232	43	3	3141	3	NPHS1	19	36340484	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16984333	36340484	22788499	226	6595											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590640	38590640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcctggaagatgctacGcccacagccaccaagcatgg	11	6	9	15	1	0	1	0	0	0	1	2	2	2	2	5	2	4	2	5	2	3	1	rs142598144		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:38590640G>A	ENST00000222345.6	+	5	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	568					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607																																						uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1702-1704)acG>acA		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.		G		0,4406		0,0,2203	62	60	61		1704	-11.8	0.1	19	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIPA1L3	NM_015073.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		568/1782	38590640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590640G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1704G>A	19.37:g.38590640G>A							p.T568T	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	2213	+			568					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1704G>A	CCDS33007.1																																																																																				0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38590640	G	A	38590640	2	1	96	1	0	0	0	0	0	0	0	1	14331	1074	38	1		1	SIPA1L3	19	38590640	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2250156	38590640	20538343	227	6596											
SPTBN4	57731	broad.mit.edu	37	chr19	41009787	41009787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagccatgaagaaacaCgaagcgatcgaggcagacat	16	3	13	9	3	0	3	0	1	0	2	1	7	0	3	1	2	3	2	1	2	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:41009787C>T	ENST00000352632.3	+	12	1499	c.1413C>T	c.(1411-1413)caC>caT	p.H471H	SPTBN4_ENST00000338932.3_Silent_p.H471H|SPTBN4_ENST00000598249.1_Silent_p.H471H|SPTBN4_ENST00000344104.3_Silent_p.H471H|SPTBN4_ENST00000595535.1_Silent_p.H471H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	471					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAGAAACACGAAGCGATCG	0.622																																						uc002ony.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1411-1413)caC>caT		Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.							43	39	40					19																	41009787		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009787C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1413C>T	19.37:g.41009787C>T						SPTBN4_uc002onx.3_Silent_p.H471H|SPTBN4_uc002onz.3_Silent_p.H471H	p.H471H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		11	1499	+			471					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1413C>T	CCDS12559.1																																																																																				0.622	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41009787	C	T	41009787	2	4	96	1	0	0	0	0	0	0	0	1	15120	535	19	1		1	SPTBN4	19	41009787	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2419147	41009787	18119196	228	6597											
ARHGEF1	9138	broad.mit.edu	37	chr19	42398544	42398544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggggaaccggcggtcGgacgagcctgccaagaccaa	10	4	16	11	4	0	2	0	1	0	1	1	5	0	4	4	5	3	0	4	5	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42398544G>A	ENST00000354532.3	+	10	913	c.765G>A	c.(763-765)tcG>tcA	p.S255S	ARHGEF1_ENST00000337665.4_Silent_p.S270S|ARHGEF1_ENST00000378152.4_Silent_p.S237S|ARHGEF1_ENST00000347545.4_Silent_p.S222S|ARHGEF1_ENST00000599846.1_Silent_p.S255S	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	255					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCGGCGGTCGGACGAGCCTG	0.622																																						uc002orx.3																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(763-765)tcG>tcA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.							28	32	31					19																	42398544		2203	4300	6503	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42398544G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.765G>A	19.37:g.42398544G>A						ARHGEF1_uc002orw.1_Silent_p.S255S|ARHGEF1_uc002ory.3_Silent_p.S222S|ARHGEF1_uc002orz.3_Silent_p.S93S|ARHGEF1_uc002osa.3_Silent_p.S270S|ARHGEF1_uc002osb.3_Silent_p.S237S|ARHGEF1_uc002osc.3_5'Flank|ARHGEF1_uc002osd.3_5'Flank	p.S255S	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	9	874	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	255					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.765G>A	CCDS12591.1																																																																																				0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		A	42398544	G	A	42398544	2	1	96	1	0	0	0	0	0	0	0	1	893	1103	39	2		2	ARHGEF1	19	42398544	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1388757	42398544	16730439	229	6598											
DEDD2	162989	broad.mit.edu	37	chr19	42703643	42703643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatcagcaacaggcGgcgccggccagcctcatagt	8	6	10	17	3	2	0	2	0	0	0	4	0	4	0	5	3	3	1	5	3	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42703643G>A	ENST00000595337.1	-	5	1015	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DEDD2_ENST00000336034.4_Missense_Mutation_p.R305C|DEDD2_ENST00000596251.1_Missense_Mutation_p.R310C|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	310					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGCAACAGGCGGCGCCGGCCA	0.672																																						uc002osu.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(928-930)Cgc>Tgc		Homo sapiens death effector domain containing 2 (DEDD2), mRNA.							20	21	20					19																	42703643		2200	4293	6493	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42703643G>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.928C>T	19.37:g.42703643G>A	ENSP00000470082:p.Arg310Cys					DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R305C	p.R310C	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN			4	996	-		Prostate(69;0.0704)	310					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.928C>T	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794943	0.70452	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.93	1.76	0.24704	.	0.086855	0.47093	U	0.000243	T	0.29684	0.0741	N	0.08118	0	0.40502	D	0.980657	B;B	0.15141	0.012;0.007	B;B	0.06405	0.002;0.001	T	0.10730	-1.0617	9	0.87932	D	0	-8.0956	9.2655	0.37639	0.1889:0.0:0.811:0.0	.	305;310	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	C	310	.	ENSP00000336972:R310C	R	-	1	0	DEDD2	47395483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.205000	0.72148	0.410000	0.25675	0.563000	0.77884	CGC		0.672	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		A	42703643	G	A	42703643	3	1	96	1	0	0	0	0	1	0	0	0	4385	1116	39	2	56	2	DEDD2	19	42703643	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	305099	42703643	16425340	230	6599											
PSG8	440533	broad.mit.edu	37	chr19	43259226	43259226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtttcatttctcGtgacactgggtagaatgagg	8	13	13	7	1	2	3	1	2	1	1	4	3	3	3	1	3	0	2	1	3	2	3	rs558641447		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:43259226G>A	ENST00000306511.4	-	4	999	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSG8_ENST00000401467.2_Missense_Mutation_p.T208M|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.T179M|PSG8_ENST00000404209.4_Missense_Mutation_p.T301M	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	301	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478													.|||	1	0.000199681	0	0.0014	5008	,	,		20909	0		0	False		,,,				2504	0					uc002ouo.2																			0		p.V300V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(901-903)aCg>aTg		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.							129	130	129					19																	43259226		2203	4297	6500	SO:0001583	missense	440533					extracellular region		g.chr19:43259226G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.902C>T	19.37:g.43259226G>A	ENSP00000305005:p.Thr301Met					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T301M|PSG8_uc010ein.3_Missense_Mutation_p.T179M|PSG3_uc002oun.3_Intron	p.T301M	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	1000	-		Prostate(69;0.00899)	301			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.902C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	8.976	0.974114	0.18736	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	1.38	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46288	0.1385	H	0.94264	3.515	0.09310	N	1	P;D;D;P;P;P	0.71674	0.934;0.974;0.998;0.723;0.57;0.624	B;P;D;P;B;B	0.69479	0.397;0.784;0.964;0.693;0.26;0.378	T	0.22417	-1.0217	9	0.72032	D	0.01	.	6.1171	0.20132	0.0:0.0:1.0:0.0	.	179;208;301;208;301;301	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	M	301;179;208;113;208;301	ENSP00000385869:T301M;ENSP00000385081:T179M;ENSP00000386090:T208M;ENSP00000305005:T301M	ENSP00000305005:T301M	T	-	2	0	PSG8	47951066	0.286000	0.24305	0.050000	0.19076	0.007000	0.05969	0.527000	0.22987	0.731000	0.32448	0.298000	0.19748	ACG		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			A	43259226	G	A	43259226	3	1	96	1	0	0	0	0	1	0	0	0	12661	1145	40	1	407	1	PSG8	19	43259226	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	555583	43259226	15869757	231	6600											
EML2	24139	broad.mit.edu	37	chr19	46137650	46137650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgtatagcacggctaCggaggccacaaagtacacta	13	6	10	12	3	0	0	0	0	0	0	0	1	0	1	1	3	3	5	1	3	6	5	rs143778766		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46137650C>T	ENST00000245925.3	-	4	309	c.259G>A	c.(259-261)Gta>Ata	p.V87I	EML2_ENST00000589876.1_Missense_Mutation_p.V87I|EML2_ENST00000536630.1_Missense_Mutation_p.V234I|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000587152.1_Missense_Mutation_p.V288I	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	87	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCACGGCTACGGAGGCCACA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		13057	0		0	False		,,,				2504	0					uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(862-864)Gta>Ata		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.			ILE/VAL,ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	92	62	72		862,700,259	4.7	1	19	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,missense	EML2	NM_001193268.1,NM_001193269.1,NM_012155.2	29,29,29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	288/851,234/797,87/650	46137650	5,13001	2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46137650C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.259G>A	19.37:g.46137650C>T	ENSP00000245925:p.Val87Ile					EML2_uc002pcn.3_Missense_Mutation_p.V87I|EML2_uc002pcp.3_Intron|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.V234I|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.V87I|EML2_uc010ekj.3_Missense_Mutation_p.V87I	p.V288I	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	6	935	-		Ovarian(192;0.179)|all_neural(266;0.224)	87					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.862G>A	CCDS12670.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.99	3.928075	0.73327	0.001135	0.0	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.37235	1.21;1.21;1.21	4.74	4.74	0.60224	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.99;0.995;0.997;0.999	T	0.62831	-0.6771	10	0.48119	T	0.1	-20.8532	15.2541	0.73571	0.0:1.0:0.0:0.0	.	87;253;234;245;87	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	I	234;87;288;245	ENSP00000442365:V234I;ENSP00000245925:V87I;ENSP00000382503:V245I	ENSP00000245925:V87I	V	-	1	0	EML2	50829490	1.000000	0.71417	0.974000	0.42286	0.351000	0.29236	7.253000	0.78320	2.475000	0.83589	0.462000	0.41574	GTA		0.607	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		T	46137650	C	T	46137650	3	4	96	1	0	0	0	0	1	0	0	0	5097	536	19	1	1754	1	EML2	19	46137650	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2878424	46137650	12991333	232	6601											
SYMPK	8189	broad.mit.edu	37	chr19	46345702	46345702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcttcagattcttaCgcacactgctcacctgcgat	8	11	9	13	2	3	1	2	0	1	1	3	2	3	1	1	1	5	4	1	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46345702C>T	ENST00000245934.7	-	9	1137	c.893G>A	c.(892-894)cGt>cAt	p.R298H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	298					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGATTCTTACGCACACTGCT	0.592																																						uc002pdn.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(892-894)cGt>cAt		Homo sapiens symplekin (SYMPK), mRNA.							84	76	78					19																	46345702		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345702C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.893G>A	19.37:g.46345702C>T	ENSP00000245934:p.Arg298His					SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.2_Missense_Mutation_p.R298H	p.R298H	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	8	1138	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	298					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.893G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666781	0.88251	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.64506	0.723;0.926	T	0.74185	-0.3747	9	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	313;298	Q4LE61;Q92797	.;SYMPK_HUMAN	H	298	.	ENSP00000245934:R298H	R	-	2	0	SYMPK	51037542	1.000000	0.71417	0.936000	0.37596	0.397000	0.30659	7.472000	0.80996	2.941000	0.99782	0.655000	0.94253	CGT		0.592	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		T	46345702	C	T	46345702	3	4	96	1	0	0	0	0	1	0	0	0	15436	536	19	1	3007	1	SYMPK	19	46345702	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	208052	46345702	12783281	233	6602											
SYMPK	8189	broad.mit.edu	37	chr19	46351088	46351088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcggggtatctctgagtCagccatgcggggtgacaggg	6	8	18	9	3	2	2	1	2	1	0	4	2	2	2	1	5	2	1	1	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46351088C>T	ENST00000245934.7	-	7	842	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	200					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCTCTGAGTCAGCCATGCGG	0.577																																						uc002pdn.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(598-600)Gac>Aac		Homo sapiens symplekin (SYMPK), mRNA.							107	89	95					19																	46351088		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351088C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.598G>A	19.37:g.46351088C>T	ENSP00000245934:p.Asp200Asn					SYMPK_uc002pdo.1_Missense_Mutation_p.D200N|SYMPK_uc002pdp.1_Missense_Mutation_p.D200N|SYMPK_uc002pdq.2_Missense_Mutation_p.D200N	p.D200N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	6	843	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	200					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.598G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	36	5.779392	0.96929	.	.	ENSG00000125755	ENST00000245934	T	0.53206	0.63	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.80764	0.994;0.896	T	0.67620	-0.5624	10	0.72032	D	0.01	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	215;200	Q4LE61;Q92797	.;SYMPK_HUMAN	N	200	ENSP00000245934:D200N	ENSP00000245934:D200N	D	-	1	0	SYMPK	51042928	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.170000	0.77587	2.854000	0.98071	0.655000	0.94253	GAC		0.577	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		T	46351088	C	T	46351088	3	4	96	1	0	0	0	0	1	0	0	0	15436	826	29	3	3310	3	SYMPK	19	46351088	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	5386	46351088	12777895	234	6603											
GRIN2D	2906	broad.mit.edu	37	chr19	48945047	48945047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctggacgccttcatctaCgatgctgcagtgctcaatta	10	11	9	11	2	3	0	2	0	1	0	3	2	3	1	1	1	5	4	1	1	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:48945047C>T	ENST00000263269.3	+	11	2362	c.2274C>T	c.(2272-2274)taC>taT	p.Y758Y		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	758					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTTCATCTACGATGCTGCAG	0.622																																						uc002pjc.4																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2272-2274)taC>taT		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						56	46	50					19																	48945047		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945047C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2274C>T	19.37:g.48945047C>T						GRIN2D_uc010elx.3_5'UTR	p.Y758Y	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	10	2362	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	758						Silent	SNP	ENST00000263269.3	37	c.2274C>T	CCDS12719.1																																																																																				0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48945047	C	T	48945047	2	4	96	1	0	0	0	0	0	0	0	1	6782	547	19	1		1	GRIN2D	19	48945047	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2593959	48945047	10183936	235	6604											
TSKS	60385	broad.mit.edu	37	chr19	50243103	50243103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccccccattgttcccGtggacccctcaagtggcagg	5	9	10	17	1	1	0	1	0	0	0	3	1	3	1	7	3	1	2	7	3	1	2	rs141726866	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:50243103G>A	ENST00000246801.3	-	11	1791	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M	TSKS_ENST00000358830.3_Missense_Mutation_p.T370M	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	570					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CATTGTTCCCGTGGACCCCTC	0.562																																						uc002ppm.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1708-1710)aCg>aTg		Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103	101	102		1709	3.2	0.7	19	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TSKS	NM_021733.1	81	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	570/593	50243103	4,13002	2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243103G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1709C>T	19.37:g.50243103G>A	ENSP00000246801:p.Thr570Met						p.T570M	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1720	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	570					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1709C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396456	0.11638	2.27E-4	3.49E-4	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33438	1.41;1.41	5.29	3.16	0.36331	.	0.446180	0.18891	N	0.128302	T	0.16685	0.0401	N	0.19112	0.55	0.23916	N	0.996478	B	0.32893	0.389	B	0.24269	0.052	T	0.11665	-1.0578	10	0.51188	T	0.08	-1.3276	8.3385	0.32230	0.1829:0.0:0.8171:0.0	.	570	Q9UJT2	TSKS_HUMAN	M	570;370	ENSP00000246801:T570M;ENSP00000351691:T370M	ENSP00000246801:T570M	T	-	2	0	TSKS	54934915	0.802000	0.28943	0.722000	0.30670	0.028000	0.11728	0.883000	0.28200	0.625000	0.30304	0.609000	0.83330	ACG		0.562	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		A	50243103	G	A	50243103	3	1	96	1	0	0	0	0	1	0	0	0	16623	1145	40	1	73	1	TSKS	19	50243103	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1298056	50243103	8885880	236	6605											
SIGLEC6	946	broad.mit.edu	37	chr19	52034117	52034117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagaagatggggggcgtcCcctgctcacagacccagggc	9	4	16	12	1	1	3	1	0	0	3	2	4	2	3	3	5	1	1	3	5	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52034117C>T	ENST00000425629.3	-	3	678	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G175E|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G164E|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.G175E|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G175E|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G139E	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	175	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(523-525)gGg>gAg		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.							75	79	78					19																	52034117		2203	4300	6503	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034117C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.524G>A	19.37:g.52034117C>T	ENSP00000401502:p.Gly175Glu					SIGLEC6_uc002pwz.3_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G139E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G175E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G128E	p.G175E	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	732	-		all_neural(266;0.0199)	175			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.524G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360444	0.24598	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	3.34	1.1	0.20463	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.421024	0.17441	N	0.174121	T	0.41743	0.1172	M	0.84948	2.725	0.09310	N	1	D;D;P;D;D;D;D	0.89917	0.997;1.0;0.94;0.987;1.0;1.0;0.997	D;D;P;P;D;D;D	0.91635	0.936;0.995;0.824;0.82;0.999;0.971;0.972	T	0.11299	-1.0593	10	0.42905	T	0.14	.	4.0573	0.09823	0.0:0.6096:0.2496:0.1408	.	175;139;164;164;175;175;175	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	E	164;175;175;175;139;175;164	ENSP00000401502:G175E;ENSP00000353071:G175E;ENSP00000410679:G139E;ENSP00000345907:G175E	ENSP00000345907:G175E	G	-	2	0	SIGLEC6	56725929	0.010000	0.17322	0.010000	0.14722	0.046000	0.14306	0.649000	0.24843	0.714000	0.32081	0.313000	0.20887	GGG		0.667	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		T	52034117	C	T	52034117	3	4	96	1	0	0	0	0	1	0	0	0	14312	623	22	3	894	3	SIGLEC6	19	52034117	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1791014	52034117	7094866	237	6606											
FPR1	2357	broad.mit.edu	37	chr19	52249297	52249297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccctctccagactggcGggaagggcgtggatcagcct	7	6	16	12	2	2	1	1	0	1	1	3	3	2	3	3	5	1	0	3	5	1	0	rs570072877		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52249297G>A	ENST00000595042.1	-	3	1092	c.951C>T	c.(949-951)ccC>ccT	p.P317P	FPR1_ENST00000304748.4_Silent_p.P317P	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	317					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGACTGGCGGGAAGGGCGT	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		17299	0		0	False		,,,				2504	0					uc021uyn.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(949-951)ccC>ccT		Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	Nedocromil(DB00716)						106	100	102					19																	52249297		2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249297G>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.951C>T	19.37:g.52249297G>A						FPR1_uc002pxq.3_Silent_p.P317P|FPR1_uc021uyo.1_Silent_p.P317P	p.P317P	NM_001193306	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	1097	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	317					Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.951C>T	CCDS12839.1																																																																																				0.557	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		A	52249297	G	A	52249297	2	1	96	1	0	0	0	0	0	0	0	1	6038	1103	39	2		2	FPR1	19	52249297	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	215180	52249297	6879686	238	6607											
PREX1	57580	broad.mit.edu	37	chr20	47249039	47249039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgaagctcacctttcGtgaacagcgctgtgtgcagc	8	9	12	12	2	1	2	1	2	0	0	2	2	1	2	2	1	5	3	2	1	2	1	rs558809203		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:47249039G>A	ENST00000371941.3	-	34	4428	c.4406C>T	c.(4405-4407)aCg>aTg	p.T1469M	PREX1_ENST00000396220.1_Missense_Mutation_p.T1469M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1469					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCACCTTTCGTGAACAGCGC	0.677													.|||	1	0.000199681	8e-04	0	5008	,	,		18995	0		0	False		,,,				2504	0					uc002xtw.1																			0		p.T1469T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(4405-4407)aCg>aTg		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							45	44	44					20																	47249039		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47249039G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4406C>T	20.37:g.47249039G>A	ENSP00000361009:p.Thr1469Met					PREX1_uc002xtv.1_Missense_Mutation_p.T766M	p.T1469M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		33	4429	-			1469					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4406C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901331	0.52227	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66460	0.94;-0.21	4.22	4.22	0.49857	.	0.000000	0.56097	U	0.000032	T	0.79713	0.4493	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.64595	0.927;0.919	D	0.83462	0.0054	10	0.87932	D	0	.	16.5913	0.84766	0.0:0.0:1.0:0.0	.	1469;766	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	M	1469	ENSP00000361009:T1469M;ENSP00000379522:T1469M	ENSP00000361009:T1469M	T	-	2	0	PREX1	46682446	1.000000	0.71417	0.847000	0.33407	0.073000	0.16967	7.374000	0.79633	1.879000	0.54435	0.462000	0.41574	ACG		0.677	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47249039	G	A	47249039	3	1	96	1	0	0	0	0	1	0	0	0	12476	1145	40	1	601	1	PREX1	20	47249039	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		47249039	15776481	239	6608											
EEF1A2	1917	broad.mit.edu	37	chr20	62126254	62126254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgatcttcttgatgtaggcGctgacttccttgacgatctc	6	14	9	12	3	3	3	0	3	3	0	5	5	4	3	2	1	0	2	2	1	1	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:62126254G>A	ENST00000298049.7	-	3	595	c.525C>T	c.(523-525)agC>agT	p.S175S	EEF1A2_ENST00000217182.3_Silent_p.S175S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	175	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGGCGCTGACTTCCT	0.602																																						uc002yfe.1																			0		p.V174A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(523-525)agC>agT		Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.							90	68	76					20																	62126254		2202	4299	6501	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126254G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.525C>T	20.37:g.62126254G>A							p.S175S	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	691	-	all_cancers(38;9.45e-12)		175					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.525C>T	CCDS13522.1																																																																																				0.602	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		A	62126254	G	A	62126254	2	1	96	1	0	0	0	0	0	0	0	1	4924	1078	38	1		1	EEF1A2	20	62126254	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	14877215	62126254	899266	240	6609											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338467	28338467	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttgccgccgccggAgtagagttggtcgatgttct	5	10	13	13	4	1	1	0	0	1	1	2	3	1	2	5	2	1	3	5	2	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:28338467A>C	ENST00000284987.5	-	1	365	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	82					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCCGCCGGAGTAGAGTTGG	0.697																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(244-246)Tcc>Gcc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.							43	42	42					21																	28338467		2186	4284	6470	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338467A>C	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.244T>G	21.37:g.28338467A>C	ENSP00000284987:p.Ser82Ala						p.S82A	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			0	973	-			82					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.244T>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	A	7.824	0.718328	0.15372	.	.	ENSG00000154736	ENST00000284987	T	0.06371	3.31	4.32	0.585	0.17428	Peptidase M12B, propeptide (1);	0.408832	0.25532	N	0.030025	T	0.03651	0.0104	L	0.34521	1.04	0.23082	N	0.998329	B	0.02656	0.0	B	0.04013	0.001	T	0.47355	-0.9124	10	0.07175	T	0.84	.	5.4627	0.16626	0.399:0.4341:0.1669:0.0	.	82	Q9UNA0	ATS5_HUMAN	A	82	ENSP00000284987:S82A	ENSP00000284987:S82A	S	-	1	0	ADAMTS5	27260338	1.000000	0.71417	0.439000	0.26833	0.983000	0.72400	0.901000	0.28445	-0.054000	0.13266	0.460000	0.39030	TCC		0.697	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			C	28338467	A	C	28338467	3	2	96	1	0	0	0	0	1	0	0	0	269	304	11	5	2580	5	ADAMTS5	21	28338467	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08		28338467	19791428	241	6610											
HSF2BP	11077	broad.mit.edu	37	chr21	44949729	44949729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggacattgccaggatgcGttgcaggggcagggagctcc	7	8	16	10	1	0	0	0	0	0	0	1	3	1	3	2	5	4	4	2	5	0	3	rs138290442		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:44949729G>A	ENST00000291560.2	-	9	1241	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R229C	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	304					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCCAGGATGCGTTGCAGGGGC	0.587													G|||	1	0.000199681	0	0	5008	,	,		14105	0		0.001	False		,,,				2504	0					uc002zdi.3																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(910-912)Cgc>Tgc		Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	70	71	71		910	5.6	1	21	dbSNP_134	71	15,8585	11.2+/-40.8	0,15,4285	yes	missense	HSF2BP	NM_007031.1	180	0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307	probably-damaging	304/335	44949729	17,12989	2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:44949729G>A	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.910C>T	21.37:g.44949729G>A	ENSP00000291560:p.Arg304Cys					HSF2BP_uc011aey.2_Missense_Mutation_p.R229C	p.R304C	NM_007031	NP_008962	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	8	1242	-			304					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.910C>T	CCDS13697.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	31	5.066166	0.93898	4.54E-4	0.001744	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.68479	-0.33;0.73	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.201479	0.53938	D	0.000050	T	0.79088	0.4387	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.80246	-0.1462	10	0.72032	D	0.01	.	19.1394	0.93441	0.0:0.0:1.0:0.0	.	304	O75031	HSF2B_HUMAN	C	304;229	ENSP00000291560:R304C;ENSP00000443367:R229C	ENSP00000291560:R304C	R	-	1	0	HSF2BP	43774157	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.427000	0.73378	2.633000	0.89246	0.563000	0.77884	CGC		0.587	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		A	44949729	G	A	44949729	3	1	96	1	0	0	0	0	1	0	0	0	7397	1145	40	1	98	1	HSF2BP	21	44949729	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16611262	44949729	3180166	242	6611											
ICOSLG	23308	broad.mit.edu	37	chr21	45657075	45657075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacgtcgctgcctaccatCgctctgacttccttctcctg	4	13	6	18	3	2	1	0	1	2	0	7	1	4	1	5	0	2	2	5	0	1	3	rs188124639	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45657075C>T	ENST00000407780.3	-	3	208	c.81G>A	c.(79-81)gcG>gcA	p.A27A	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.A27A|ICOSLG_ENST00000344330.4_Silent_p.A27A	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	27	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498													C|||	10	0.00199681	0	0	5008	,	,		22368	0.0099		0	False		,,,				2504	0					uc010gpp.1																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(79-81)gcG>gcA		Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.							67	73	71					21																	45657075		2079	4221	6300	SO:0001819	synonymous_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45657075C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.81G>A	21.37:g.45657075C>T						ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.A27A|ICOSLG_uc011afc.2_Intron	p.A27A	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	2	215	-			27			Ig-like V-type.		A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	37	c.81G>A	CCDS42952.1																																																																																				0.498	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		T	45657075	C	T	45657075	2	4	96	1	0	0	0	0	0	0	0	1	7487	871	31	2		2	ICOSLG	21	45657075	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	707346	45657075	2472820	243	6612											
PFKL	5211	broad.mit.edu	37	chr21	45732042	45732042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaccaccagggaggggCgccgggcagcggcctacaac	8	4	14	15	3	0	0	0	0	0	0	0	1	0	1	5	5	4	1	5	5	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45732042C>T	ENST00000349048.4	+	4	347	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R145C	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	98	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGGGAGGGGCGCCGGGCAGC	0.642																																						uc002zek.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(433-435)Cgc>Tgc		Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.							25	21	23					21																	45732042		2193	4292	6485	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732042C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.292C>T	21.37:g.45732042C>T	ENSP00000269848:p.Arg98Cys					PFKL_uc002zel.3_Missense_Mutation_p.R98C|PFKL_uc011afd.1_Missense_Mutation_p.R145C	p.R145C			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	834	+			98					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.433C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059623	0.55325	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80824	-1.42;-1.42	4.3	4.3	0.51218	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95203	0.8318	10	0.87932	D	0	-19.9368	15.9247	0.79606	0.0:1.0:0.0:0.0	.	98;145	P17858;P17858-2	K6PL_HUMAN;.	C	98;148;145	ENSP00000269848:R98C;ENSP00000384038:R145C	ENSP00000269848:R98C	R	+	1	0	PFKL	44556470	0.985000	0.35326	0.854000	0.33618	0.323000	0.28346	2.765000	0.47621	2.111000	0.64477	0.467000	0.42956	CGC		0.642	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45732042	C	T	45732042	3	4	96	1	0	0	0	0	1	0	0	0	11764	768	27	1	306	1	PFKL	21	45732042	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	74967	45732042	2397853	244	6613											
MICAL3	57553	broad.mit.edu	37	chr22	18301786	18301786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcacagctttcagatccGagggggcatcagctttgggc	8	9	14	10	1	2	1	2	0	0	1	3	2	3	1	1	3	3	4	1	3	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:18301786G>A	ENST00000441493.2	-	26	3993	c.3641C>T	c.(3640-3642)tCg>tTg	p.S1214L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1214	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.S1214L(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTCAGATCCGAGGGGGCATC	0.622																																						uc002zng.4																			1	Substitution - Missense(1)	p.S1214L(1)	breast(1)	large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(3640-3642)tCg>tTg		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.							19	21	20					22																	18301786		1940	4113	6053	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301786G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3641C>T	22.37:g.18301786G>A	ENSP00000416015:p.Ser1214Leu					MICAL3_uc011agl.2_Missense_Mutation_p.S1130L	p.S1214L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	25	3994	-		all_epithelial(15;0.198)	1214			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3641C>T	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.878|9.878	1.200768|1.200768	0.22121|0.22121	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.61859	.|0.07	4.48|4.48	-1.03|-1.03	0.10102|0.10102	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.09377	.|0.004	T|T	0.17653|0.17653	-1.0362|-1.0362	5|9	.|0.35671	.|T	.|0.21	.|.	0.7095|0.7095	0.00922|0.00922	0.2605:0.1177:0.3041:0.3177|0.2605:0.1177:0.3041:0.3177	.|.	.|1214	.|Q7RTP6	.|MICA3_HUMAN	W|L	196|1214	.|ENSP00000416015:S1214L	.|ENSP00000416015:S1214L	R|S	-|-	1|2	2|0	XXbac-B461K10.4|XXbac-B461K10.4	16681786|16681786	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.428000|-0.428000	0.06991|0.06991	-0.006000|-0.006000	0.14370|0.14370	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.622	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			A	18301786	G	A	18301786	3	1	96	1	0	0	0	0	1	0	0	0	9571	1059	37	2	2395	2	MICAL3	22	18301786	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		18301786	33002780	245	6614											
TSSK2	23617	broad.mit.edu	37	chr22	19119833	19119833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagacaggcttgaggccCgaccaccggcccgaccacaa	12	2	10	17	3	0	2	0	1	0	1	0	4	0	2	6	3	0	1	6	3	2	1	rs150037057	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19119833C>T	ENST00000399635.2	+	1	1513	c.921C>T	c.(919-921)ccC>ccT	p.P307P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	307					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCTTGAGGCCCGACCACCGGC	0.637													C|||	2	0.000399361	0	0	5008	,	,		16201	0.001		0	False		,,,				2504	0.001					uc002zow.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(919-921)ccC>ccT		Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.		C	,	0,4406		0,0,2203	33	33	33		,921	-10.7	0	22	dbSNP_134	33	1,8595		0,1,4297	no	utr-3,coding-synonymous	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	,307/359	19119833	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119833C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.921C>T	22.37:g.19119833C>T						DGCR14_uc002zou.3_3'UTR	p.P307P	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			0	1513	+	Colorectal(54;0.0993)		307					Q8IY55	Silent	SNP	ENST00000399635.2	37	c.921C>T	CCDS13755.1																																																																																				0.637	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			T	19119833	C	T	19119833	2	4	96	1	0	0	0	0	0	0	0	1	16666	639	23	2		2	TSSK2	22	19119833	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	818047	19119833	32184733	246	6615											
HIRA	7290	broad.mit.edu	37	chr22	19398254	19398254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataccttgtcctccagttgCgaacttggtcccgtcagggt	6	12	10	13	2	1	0	1	0	0	0	4	1	4	0	4	2	3	1	4	2	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19398254C>T	ENST00000263208.5	-	2	341	c.85G>A	c.(85-87)Gca>Aca	p.A29T	HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.A29T|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	29					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCAGTTGCGAACTTGGTC	0.408																																						uc002zpf.1																			0		p.F28F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(85-87)Gca>Aca		Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.							235	238	237					22																	19398254		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19398254C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.85G>A	22.37:g.19398254C>T	ENSP00000263208:p.Ala29Thr					HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.A29T|HIRA_uc010gro.2_5'UTR|HIRA_uc010grp.3_Non-coding_Transcript	p.A29T	NM_003325	NP_003316	P54198	HIRA_HUMAN			1	305	-	Colorectal(54;0.0993)		29					Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.85G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371606	0.82573	.	.	ENSG00000100084	ENST00000340170;ENST00000263208	D;T	0.84873	-1.91;-0.82	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.982;0.996	D	0.95961	0.8962	10	0.72032	D	0.01	-9.7257	17.73	0.88375	0.0:1.0:0.0:0.0	.	29;29	P54198-2;P54198	.;HIRA_HUMAN	T	29	ENSP00000345350:A29T;ENSP00000263208:A29T	ENSP00000263208:A29T	A	-	1	0	HIRA	17778254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.956000	0.76013	2.485000	0.83878	0.655000	0.94253	GCA		0.408	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		T	19398254	C	T	19398254	3	4	96	1	0	0	0	0	1	0	0	0	7120	768	27	1	3064	1	HIRA	22	19398254	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	278421	19398254	31906312	247	6616											
TFIP11	24144	broad.mit.edu	37	chr22	26906086	26906086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctctgcccacaccccGtaggtggcttcttccttggt	3	13	9	16	2	3	0	0	0	3	0	5	0	4	0	4	3	1	3	4	3	1	4	rs150326842	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:26906086G>A	ENST00000407690.1	-	4	436	c.153C>T	c.(151-153)taC>taT	p.Y51Y	TFIP11_ENST00000405938.1_Silent_p.Y51Y|CTA-445C9.14_ENST00000565764.1_RNA|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000407431.1_Silent_p.Y51Y|TFIP11_ENST00000407148.1_Silent_p.Y51Y	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	51					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCACACCCCGTAGGTGGCTT	0.567													G|||	2	0.000399361	0	0	5008	,	,		17720	0		0.002	False		,,,				2504	0					uc003acr.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(151-153)taC>taT		Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.		G	,	0,4406		0,0,2203	165	142	150		153,153	-9.5	0.9	22	dbSNP_134	150	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	0,20,6483	AA,AG,GG		0.2326,0.0,0.1538	,	51/838,51/838	26906086	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906086G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.153C>T	22.37:g.26906086G>A						TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	p.Y51Y	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			2	527	-			51					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.153C>T	CCDS13838.1																																																																																				0.567	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		A	26906086	G	A	26906086	2	1	96	1	0	0	0	0	0	0	0	1	15804	1140	40	1		1	TFIP11	22	26906086	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7507832	26906086	24398480	248	6617											
MCM5	4174	broad.mit.edu	37	chr22	35802697	35802697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggcctcgagggctatgCcctgcccaggaagtgcaaca	8	6	12	15	1	0	0	0	0	0	0	1	2	0	1	4	3	4	2	4	3	3	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:35802697C>T	ENST00000216122.4	+	5	729	c.575C>T	c.(574-576)gCc>gTc	p.A192V	MCM5_ENST00000382011.5_Missense_Mutation_p.A149V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	192					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAGGGCTATGCCCTGCCCAGG	0.602																																						uc003anu.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(574-576)gCc>gTc		Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.							74	54	61					22																	35802697		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35802697C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.575C>T	22.37:g.35802697C>T	ENSP00000216122:p.Ala192Val					MCM5_uc003anv.4_Missense_Mutation_p.A149V|MCM5_uc010gws.2_5'Flank	p.A192V	NM_006739	NP_006730	P33992	MCM5_HUMAN			4	669	+			192					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.575C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016873	0.54576	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000416905;ENST00000444778	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	3.94	3.94	0.45596	Nucleic acid-binding, OB-fold-like (1);	0.187564	0.45606	D	0.000341	T	0.05090	0.0136	L	0.35542	1.07	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.15484	0.013;0.013	T	0.43163	-0.9408	10	0.19147	T	0.46	-16.8262	16.5319	0.84362	0.0:1.0:0.0:0.0	.	149;192	B1AHB1;P33992	.;MCM5_HUMAN	V	192;149;101;224;49	ENSP00000216122:A192V;ENSP00000371441:A149V;ENSP00000393977:A224V;ENSP00000408705:A49V	ENSP00000216122:A192V	A	+	2	0	MCM5	34132697	1.000000	0.71417	0.997000	0.53966	0.811000	0.45836	6.900000	0.75687	2.191000	0.70037	0.561000	0.74099	GCC		0.602	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			T	35802697	C	T	35802697	3	4	96	1	0	0	0	0	1	0	0	0	9390	739	26	3	589	3	MCM5	22	35802697	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8896611	35802697	15501869	249	6618											
CSF2RB	1439	broad.mit.edu	37	chr22	37328885	37328885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggaaacaatgaaaatgcGatacgaacacatagaccaca	19	5	8	9	2	0	2	0	1	0	1	0	5	0	3	1	1	4	0	1	1	7	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:37328885G>A	ENST00000403662.3	+	9	1313	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CSF2RB_ENST00000536485.1_Missense_Mutation_p.R311Q|CSF2RB_ENST00000262825.5_Missense_Mutation_p.R370Q|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R370Q			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	364	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R364Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGAAAATGCGATACGAACAC	0.552																																						uc003aqa.4																			1	Substitution - Missense(1)	p.R364Q(2)	skin(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1090-1092)cGa>cAa		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						134	98	110					22																	37328885		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37328885G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1091G>A	22.37:g.37328885G>A	ENSP00000384053:p.Arg364Gln					CSF2RB_uc003aqc.4_Missense_Mutation_p.R370Q	p.R364Q	NM_000395	NP_000386	P32927	IL3RB_HUMAN			8	1308	+			364			Fibronectin type-III 2.		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1091G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	8.946	0.966963	0.18659	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.71	-9.42	0.00610	Fibronectin, type III (4);Immunoglobulin-like fold (1);	4.772160	0.00424	N	0.000067	T	0.26484	0.0647	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.04013	0.001;0.001	T	0.18241	-1.0343	10	0.28530	T	0.3	3.3602	1.2823	0.02043	0.1734:0.3392:0.2227:0.2648	.	370;364	P32927-2;P32927	.;IL3RB_HUMAN	Q	364;364;370;370;311	ENSP00000384053:R364Q;ENSP00000262825:R370Q;ENSP00000385271:R370Q;ENSP00000440003:R311Q	ENSP00000262825:R370Q	R	+	2	0	CSF2RB	35658831	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.007000	0.00649	-3.061000	0.00256	-0.514000	0.04452	CGA		0.552	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37328885	G	A	37328885	3	1	96	1	0	0	0	0	1	0	0	0	3935	1058	37	2	1121	2	CSF2RB	22	37328885	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1526188	37328885	13975681	250	6619											
FAM19A5	25817	broad.mit.edu	37	chr22	49042484	49042484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggaggacgatcgcccGgcagaccgcccgctgtgcgt	5	5	15	16	7	0	1	0	0	0	1	2	4	0	3	4	3	1	2	4	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:49042484G>A	ENST00000402357.1	+	2	321	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	FAM19A5_ENST00000358295.5_Missense_Mutation_p.R56Q|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	63						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		ACGATCGCCCGGCAGACCGCC	0.692																																						uc003bim.4																			0				large_intestine(1)|lung(6)	7						c.(187-189)cGg>cAg		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.							23	29	27					22																	49042484		2058	4198	6256	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042484G>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.188G>A	22.37:g.49042484G>A	ENSP00000383933:p.Arg63Gln					FAM19A5_uc003bio.4_Missense_Mutation_p.R56Q	p.R63Q	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	1	305	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	63					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.188G>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472641	0.96274	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.77356	0.4118	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.933;0.995	T	0.79771	-0.1663	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	56;63	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	Q	63;63;56	.	ENSP00000336812:R63Q	R	+	2	0	FAM19A5	47428920	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	CGG		0.692	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		A	49042484	G	A	49042484	3	1	96	1	0	0	0	0	1	0	0	0	5535	1116	39	2	289	2	FAM19A5	22	49042484	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	11713599	49042484	2262082	251	6620											
MOV10L1	54456	broad.mit.edu	37	chr22	50596540	50596540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaacccggccgaggccGtccaggtcctgcgctactgc	5	7	13	16	4	1	0	1	0	0	0	3	1	3	0	5	4	4	2	5	4	2	2	rs368155014		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50596540G>A	ENST00000262794.5	+	23	3204	c.3121G>A	c.(3121-3123)Gtc>Atc	p.V1041I	MOV10L1_ENST00000395858.3_Missense_Mutation_p.V1041I|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V1021I|MOV10L1_ENST00000395852.1_Missense_Mutation_p.V168I|MOV10L1_ENST00000545383.1_Missense_Mutation_p.V1041I|MOV10L1_ENST00000354853.2_Missense_Mutation_p.V84I|MOV10L1_ENST00000395843.1_Missense_Mutation_p.V84I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1041					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCCGAGGCCGTCCAGGTCCT	0.587																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3121-3123)Gtc>Atc		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	83	75	78		3121,3061,502,3121	3.7	0.9	22		78	1,8599		0,1,4299	no	missense,missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1041/1166,1021/1166,168/339,1041/1212	50596540	1,13005	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50596540G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3121G>A	22.37:g.50596540G>A	ENSP00000262794:p.Val1041Ile					MOV10L1_uc003bjk.4_Missense_Mutation_p.V1041I|MOV10L1_uc011arp.2_Missense_Mutation_p.V1021I|MOV10L1_uc003bjl.3_Missense_Mutation_p.V168I|MOV10L1_uc003bjm.1_Missense_Mutation_p.V84I	p.V1041I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3204	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1041					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3121G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.105679	0.77096	0.0	1.16E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.7	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.65975	2.015	0.46149	D	0.998898	D;P;P;D;D	0.89917	1.0;0.949;0.812;1.0;1.0	D;P;B;D;D	0.79784	0.993;0.55;0.247;0.984;0.984	D	0.86107	0.1560	10	0.44086	T	0.13	-25.4258	12.0316	0.53401	0.0867:0.0:0.9133:0.0	.	1021;84;168;1041;1041	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	I	1041;1041;1041;84;1021;168;84	ENSP00000438978:V1041I;ENSP00000262794:V1041I;ENSP00000379199:V1041I;ENSP00000379184:V84I;ENSP00000438542:V1021I;ENSP00000379193:V168I;ENSP00000346917:V84I	ENSP00000262794:V1041I	V	+	1	0	MOV10L1	48938667	1.000000	0.71417	0.935000	0.37517	0.510000	0.34073	8.677000	0.91203	1.097000	0.41459	-0.148000	0.13756	GTC		0.587	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50596540	G	A	50596540	3	1	96	1	0	0	0	0	1	0	0	0	9719	1145	40	1	3264	1	MOV10L1	22	50596540	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1554056	50596540	708026	252	6621											
NCAPH2	29781	broad.mit.edu	37	chr22	50957116	50957116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccaatggaagtttccGtgtgcaggagccctgtccca	9	8	12	12	1	0	0	0	0	0	0	2	2	2	2	4	2	4	3	4	2	2	1	rs574318930		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50957116G>A	ENST00000420993.2	+	8	807	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	NCAPH2_ENST00000299821.11_Missense_Mutation_p.V229M|NCAPH2_ENST00000395701.3_Missense_Mutation_p.V229M|NCAPH2_ENST00000395698.3_Missense_Mutation_p.V229M	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	229					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAGTTTCCGTGTGCAGGAG	0.647													G|||	1	0.000199681	0	0	5008	,	,		17962	0		0	False		,,,				2504	0.001					uc003blx.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(685-687)Gtg>Atg		Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.							36	31	32					22																	50957116		2203	4299	6502	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50957116G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.685G>A	22.37:g.50957116G>A	ENSP00000410088:p.Val229Met					NCAPH2_uc003blq.4_Missense_Mutation_p.V229M|NCAPH2_uc003blv.3_Missense_Mutation_p.V229M|NCAPH2_uc003blr.4_Missense_Mutation_p.V229M	p.V229M	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	7	807	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	229					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.685G>A	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383241	0.42207	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	4.56	-0.177	0.13307	.	2.260170	0.01773	N	0.031312	T	0.40196	0.1107	L	0.57536	1.79	0.09310	N	1	D;D;D;D;D	0.61080	0.969;0.969;0.989;0.975;0.983	B;B;P;P;P	0.48454	0.401;0.401;0.578;0.537;0.497	T	0.21042	-1.0257	9	0.30854	T	0.27	-5.5777	4.4796	0.11760	0.2882:0.1628:0.549:0.0	.	229;229;207;229;229	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;.;CNDH2_HUMAN;.	M	229;229;229;195;229	.	ENSP00000299821:V229M	V	+	1	0	NCAPH2	49303982	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.510000	0.06328	-0.126000	0.11682	-0.379000	0.06801	GTG		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		A	50957116	G	A	50957116	3	1	96	1	0	0	0	0	1	0	0	0	10210	1145	40	1	715	1	NCAPH2	22	50957116	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	360576	50957116	347450	253	6622											
ZBED1	9189	broad.mit.edu	37	chrX	2408513	2408513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcacgcatctgctccGtgttgctcttgacgaactcg	6	12	10	13	4	3	1	1	1	2	0	5	2	4	1	1	1	3	5	1	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:2408513G>A	ENST00000381223.4	-	2	451	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.T83M|ZBED1_ENST00000381222.2_Missense_Mutation_p.T83M|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	83					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCTGCTCCGTGTTGCTCTT	0.632																																						uc022brx.1																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(247-249)aCg>aTg		Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.							195	174	181					X																	2408513		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408513G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.248C>T	X.37:g.2408513G>A	ENSP00000370621:p.Thr83Met					DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.T83M|ZBED1_uc004cqg.2_Missense_Mutation_p.T83M|ZBED1_uc022brw.1_Missense_Mutation_p.T83M	p.T83M	NM_004729	NP_004720	O96006	ZBED1_HUMAN			0	248	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	83					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.248C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169287	0.57584	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	2.62	0.31277	.	0.172732	0.35207	U	0.003379	T	0.63082	0.2481	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.55842	-0.8077	8	0.48119	T	0.1	-26.8773	13.0583	0.58992	0.0:0.0:1.0:0.0	.	83	O96006	ZBED1_HUMAN	M	83	.	ENSP00000370616:T83M	T	-	2	0	ZBED1	2418513	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.339000	0.72969	1.086000	0.41228	0.425000	0.28330	ACG		0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		A	2408513	G	A	2408513	3	1	96	1	0	0	0	0	1	0	0	0	17514	1145	40	1	1840	1	ZBED1	23	2408513	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		2408513	152862047	254	6623											
HDHD1A	8226	broad.mit.edu	37	chrX	6995419	6995419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatatcgaacgacgCggaccccgagctggtggcca	8	8	12	13	5	2	0	1	0	1	0	3	4	2	1	3	3	2	1	3	3	2	2	rs182257555		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:6995419C>T	ENST00000381077.5	-	3	428	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	HDHD1_ENST00000540122.1_Missense_Mutation_p.A118T|HDHD1_ENST00000412827.2_Missense_Mutation_p.A75T|HDHD1_ENST00000424830.2_Missense_Mutation_p.A141T	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	118					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TCGAACGACGCGGACCCCGAG	0.582																																						uc004crv.2																			0		p.S118C(1)		breast(2)|large_intestine(1)|lung(3)	6						c.(352-354)Gcg>Acg		Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.							44	46	45					X																	6995419		2052	4172	6224	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995419C>T	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.352G>A	X.37:g.6995419C>T	ENSP00000370467:p.Ala118Thr					HDHD1_uc011mhm.1_Missense_Mutation_p.A141T|HDHD1_uc011mhn.1_Missense_Mutation_p.A75T|HDHD1_uc010ndl.2_Intron|HDHD1_uc011mho.1_Missense_Mutation_p.A118T	p.A118T	NM_012080	NP_036212	Q08623	HDHD1_HUMAN			2	429	-			118					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.352G>A	CCDS48075.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	7.034	0.561246	0.13498	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	3.88	-0.796	0.10912	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	1.438360	0.04270	N	0.341826	T	0.04452	0.0122	L	0.43646	1.37	0.09310	N	1	P;B;B;B	0.43826	0.818;0.019;0.054;0.023	B;B;B;B	0.26969	0.075;0.016;0.047;0.019	T	0.46735	-0.9170	10	0.17832	T	0.49	-22.9686	6.8034	0.23764	0.4243:0.4854:0.0:0.0903	.	118;75;141;118	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	T	118;134;75;141;118;118	ENSP00000370467:A118T;ENSP00000406260:A75T;ENSP00000396452:A141T;ENSP00000441208:A118T;ENSP00000430995:A118T	ENSP00000370467:A118T	A	-	1	0	HDHD1	7005419	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.952000	0.29149	-0.163000	0.10946	0.513000	0.50165	GCG		0.582	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		T	6995419	C	T	6995419	3	4	96	1	0	0	0	0	1	0	0	0	7022	768	27	1	463	1	HDHD1A	23	6995419	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4586906	6995419	148275141	255	6624											
CXorf22	170063	broad.mit.edu	37	chrX	35993898	35993898	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctagtattgagaccaCgaggcttcttcatgaaaaca	14	10	9	8	1	2	3	1	3	1	1	2	5	2	3	1	1	2	3	1	1	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:35993898C>T	ENST00000297866.5	+	15	2647	c.2581C>T	c.(2581-2583)Cga>Tga	p.R861*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGAGACCACGAGGCTTCTT	0.438																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2581-2583)Cga>Tga		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							181	156	164					X																	35993898		2202	4300	6502	SO:0001587	stop_gained	170063							g.chrX:35993898C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2581C>T	X.37:g.35993898C>T	ENSP00000297866:p.Arg861*					CXorf22_uc010ngv.3_Non-coding_Transcript	p.R861*	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			14	2647	+			861					Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	ENST00000297866.5	37	c.2581C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	34	5.364837	0.95877	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.14	5.14	0.70334	.	0.908232	0.09382	N	0.809848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.9463	10.2556	0.43394	0.1974:0.8026:0.0:0.0	.	.	.	.	X	861	.	ENSP00000297866:R861X	R	+	1	2	CXorf22	35903819	0.043000	0.20138	0.534000	0.28014	0.063000	0.16089	1.187000	0.32090	2.117000	0.64856	0.600000	0.82982	CGA		0.438	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35993898	C	T	35993898	4	4	96	1	0	0	0	0	0	1	0	0	4102	528	19	1	2639	1	CXorf22	23	35993898	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	28998479	35993898	119276662	256	6625											
BMP15	9210	broad.mit.edu	37	chrX	50659329	50659329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttccaaatcagcttcCgccagctgggttgggatcac	8	10	9	14	1	2	0	2	0	0	0	4	1	4	1	4	2	2	3	4	2	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:50659329C>T	ENST00000252677.3	+	2	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	301					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498																																						uc011mnw.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(901-903)Cgc>Tgc		Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.							127	109	115					X																	50659329		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659329C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.901C>T	X.37:g.50659329C>T	ENSP00000252677:p.Arg301Cys						p.R301C	NM_005448	NP_005439	O95972	BMP15_HUMAN			1	950	+	Ovarian(276;0.236)		301					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.901C>T	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	9.983	1.228787	0.22542	.	.	ENSG00000130385	ENST00000252677	D	0.89939	-2.59	5.58	2.65	0.31530	Transforming growth factor-beta, C-terminal (3);	0.892392	0.10051	N	0.722224	D	0.91260	0.7245	M	0.75777	2.31	0.19575	N	0.999968	D	0.64830	0.994	P	0.55055	0.767	T	0.80585	-0.1317	10	0.66056	D	0.02	.	6.7908	0.23699	0.3088:0.6043:0.0:0.087	.	301	O95972	BMP15_HUMAN	C	301	ENSP00000252677:R301C	ENSP00000252677:R301C	R	+	1	0	BMP15	50676069	0.000000	0.05858	0.039000	0.18376	0.003000	0.03518	0.110000	0.15437	0.517000	0.28361	-0.215000	0.12644	CGC		0.498	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50659329	C	T	50659329	3	4	96	1	0	0	0	0	1	0	0	0	1458	652	23	2	907	2	BMP15	23	50659329	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14665431	50659329	104611231	257	6626											
ATRX	546	broad.mit.edu	37	chrX	76814187	76814187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcttagtttgtccaaagcGataaactctgaatatactct	13	13	7	8	1	2	1	0	1	2	0	3	2	3	1	1	1	3	2	1	1	7	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:76814187G>A	ENST00000373344.5	-	29	6671	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_ENST00000395603.3_Missense_Mutation_p.R2115C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2153	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R2153C(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTCCAAAGCGATAAACTCTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Missense(1)|Unknown(1)	p.R2153C(2)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6457-6459)Cgc>Tgc		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						87	85	86					X																	76814187		2203	4293	6496	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814187G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6457C>T	X.37:g.76814187G>A	ENSP00000362441:p.Arg2153Cys					ATRX_uc004ecq.4_Missense_Mutation_p.R2115C|ATRX_uc004eco.4_Missense_Mutation_p.R1938C	p.R2153C	NM_000489	NP_000480	P46100	ATRX_HUMAN			28	6689	-			2153			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6457C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570370	0.65765	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94793	-3.52;-3.52	5.21	5.21	0.72293	Helicase, C-terminal (3);	0.000000	0.85682	U	0.000000	D	0.98757	0.9582	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99686	1.1000	10	0.87932	D	0	-2.4961	17.8291	0.88676	0.0:0.0:1.0:0.0	.	2115;2153	P46100-4;P46100	.;ATRX_HUMAN	C	2153;2115	ENSP00000362441:R2153C;ENSP00000378967:R2115C	ENSP00000362441:R2153C	R	-	1	0	ATRX	76700843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.141000	0.66446	0.600000	0.82982	CGC		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76814187	G	A	76814187	3	1	96	1	0	0	0	0	1	0	0	0	1208	1058	37	2	1049	2	ATRX	23	76814187	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	26154858	76814187	78456373	258	6627											
PCDH19	57526	broad.mit.edu	37	chrX	99662086	99662086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgatggagacataggTgaagacaggcatgtcccgca	12	7	15	7	1	0	4	0	2	0	2	1	6	1	5	1	4	0	2	1	4	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:99662086T>C	ENST00000373034.4	-	1	3185	c.1510A>G	c.(1510-1512)Acc>Gcc	p.T504A	PCDH19_ENST00000420881.2_Missense_Mutation_p.T504A|PCDH19_ENST00000255531.7_Missense_Mutation_p.T504A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGACATAGGTGAAGACAGGC	0.577																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1510-1512)Acc>Gcc		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.							95	96	96					X																	99662086		2154	4252	6406	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662086T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1510A>G	X.37:g.99662086T>C	ENSP00000362125:p.Thr504Ala					PCDH19_uc004efw.4_Missense_Mutation_p.T504A|PCDH19_uc004efx.4_Missense_Mutation_p.T504A	p.T504A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	3186	-			504			Cadherin 5.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1510A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232223	0.58777	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.50548	0.74;0.74;0.74	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.049950	0.85682	D	0.000000	T	0.59756	0.2217	L	0.48260	1.515	0.58432	D	0.999999	P;D;D	0.55385	0.832;0.964;0.971	P;P;P	0.62298	0.669;0.839;0.9	T	0.60239	-0.7302	10	0.49607	T	0.09	.	14.8243	0.70097	0.0:0.0:0.0:1.0	.	504;504;504	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	504	ENSP00000400327:T504A;ENSP00000362125:T504A;ENSP00000255531:T504A	ENSP00000255531:T504A	T	-	1	0	PCDH19	99548742	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.082000	0.71318	1.882000	0.54519	0.417000	0.27973	ACC		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		C	99662086	T	C	99662086	3	2	96	1	0	0	0	0	1	0	0	0	11514	1696	59	4	1960	4	PCDH19	23	99662086	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	22847899	99662086	55608474	259	6628											
FLNA	2316	broad.mit.edu	37	chrX	153580717	153580717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcagcgggaacaaagcGgatgcagtaggtgtggttct	10	9	14	8	2	2	0	1	0	2	0	3	2	2	2	0	4	4	3	0	4	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153580717G>A	ENST00000369850.3	-	41	6837	c.6601C>T	c.(6601-6603)Cgc>Tgc	p.R2201C	FLNA_ENST00000422373.1_Missense_Mutation_p.R2193C|FLNA_ENST00000344736.4_Missense_Mutation_p.R2161C|FLNA_ENST00000360319.4_Missense_Mutation_p.R2193C|FLNA_ENST00000369856.3_Missense_Mutation_p.R334C|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2201					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAACAAAGCGGATGCAGTAG	0.597																																						uc004fkk.2																			0				breast(6)	6						c.(6601-6603)Cgc>Tgc		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							81	87	85					X																	153580717		2187	4269	6456	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580717G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6601C>T	X.37:g.153580717G>A	ENSP00000358866:p.Arg2201Cys					FLNA_uc011mzn.1_Missense_Mutation_p.R334C|FLNA_uc010nuu.1_Missense_Mutation_p.R2193C	p.R2201C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			40	6850	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2201					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6601C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544315	0.65198	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.23	5.23	0.72850	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;P;P;P	0.87578	0.998;0.888;0.895;0.895	D	0.94608	0.7802	10	0.87932	D	0	.	17.9264	0.88985	0.0:0.0:1.0:0.0	.	334;2193;2201;2201	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	C	2193;2193;2201;334;2161;141	ENSP00000353467:R2193C;ENSP00000416926:R2193C;ENSP00000358866:R2201C;ENSP00000358872:R334C;ENSP00000358863:R2161C;ENSP00000397824:R141C	ENSP00000358863:R2161C	R	-	1	0	FLNA	153233911	1.000000	0.71417	0.996000	0.52242	0.413000	0.31143	9.817000	0.99352	2.167000	0.68274	0.513000	0.50165	CGC		0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153580717	G	A	153580717	3	1	96	1	0	0	0	0	1	0	0	0	5933	1116	39	2	1374	2	FLNA	23	153580717	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	53918631	153580717	1689843	260	6629											
FLNA	2316	broad.mit.edu	37	chrX	153587696	153587696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaccgagcagctgccGtccttgttatccatgcagga	8	10	10	13	3	0	0	0	0	0	0	3	3	2	1	4	1	5	4	4	1	2	3	rs372110377		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153587696G>A	ENST00000369850.3	-	25	4457	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_ENST00000422373.1_Silent_p.D1407D|FLNA_ENST00000344736.4_Silent_p.D1407D|FLNA_ENST00000360319.4_Silent_p.D1407D|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1407					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632																																						uc004fkk.2																			0				breast(6)	6						c.(4219-4221)gaC>gaT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							60	68	66					X																	153587696		2087	4194	6281	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587696G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4221C>T	X.37:g.153587696G>A						FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	p.D1407D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			24	4470	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1407					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4221C>T	CCDS48194.1																																																																																				0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153587696	G	A	153587696	2	1	96	1	0	0	0	0	0	0	0	1	5933	1136	40	1		1	FLNA	23	153587696	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	6979	153587696	1682864	261	6630											
EPHA8	2046	broad.mit.edu	37	chr1	22902985	22902985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagccagttcctcaaaatCgacaccattgcggccgacga	13	6	9	13	4	1	0	1	0	0	0	3	4	2	0	4	1	2	1	4	1	3	2	rs142515766		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:22902985C>T	ENST00000166244.3	+	3	507	c.435C>T	c.(433-435)atC>atT	p.I145I	EPHA8_ENST00000374644.4_Silent_p.I145I|EPHA8_ENST00000538803.1_Silent_p.I145I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	145	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCAAAATCGACACCATTG	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		18079	0		0	False		,,,				2504	0					uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(433-435)atC>atT		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.		C	,	3,4403	6.2+/-15.9	0,3,2200	90	78	82		435,435	-0.6	1	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHA8	NM_001006943.1,NM_020526.3	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	145/496,145/1006	22902985	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902985C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.435C>T	1.37:g.22902985C>T						EPHA8_uc001bfw.3_Silent_p.I145I	p.I145I	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	560	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	145					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.435C>T	CCDS225.1																																																																																				0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22902985	C	T	22902985	2	4	97	1	0	0	0	0	0	0	0	1	5173	874	31	2		2	EPHA8	1	22902985	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		22902985	226347636	1	6631											
FAM129A	116496	broad.mit.edu	37	chr1	184764446	184764446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtgagtgtgcaggcctCtcctgggagctccccctcca	5	8	13	15	0	1	1	0	1	1	0	4	2	3	2	5	3	2	3	5	3	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:184764446C>T	ENST00000367511.3	-	14	2645	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	818	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCAGGCCTCTCCTGGGAGC	0.647																																						uc001gra.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2452-2454)Gag>Aag		Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.							53	53	53					1																	184764446		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764446C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2452G>A	1.37:g.184764446C>T	ENSP00000356481:p.Glu818Lys					FAM129A_uc001grb.1_Intron	p.E818K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			13	2646	-			818			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2452G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964167	0.18583	.	.	ENSG00000135842	ENST00000367511	T	0.10573	2.86	5.25	-6.81	0.01704	.	2.875170	0.00644	N	0.000531	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	10	0.06494	T	0.89	1.3889	7.4335	0.27141	0.0:0.4598:0.2536:0.2866	.	818	Q9BZQ8	NIBAN_HUMAN	K	818	ENSP00000356481:E818K	ENSP00000356481:E818K	E	-	1	0	FAM129A	183031069	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.695000	0.05109	-1.194000	0.02684	0.462000	0.41574	GAG		0.647	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			T	184764446	C	T	184764446	3	4	97	1	0	0	0	0	1	0	0	0	5436	922	32	3	338	3	FAM129A	1	184764446	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	161861461	184764446	64486175	2	6632											
CACNA1S	779	broad.mit.edu	37	chr1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccgcctcaccttgcaaaCgggtcagccagagaggctgg	8	7	13	13	2	2	1	2	0	0	1	3	2	3	1	4	3	3	3	4	3	1	2	rs146696298		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:201052298C>T	ENST00000362061.3	-	10	1611	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R462H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1384-1386)cGt>cAt		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	66	70		1385	-0.9	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	462/1874	201052298	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201052298C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1385G>A	1.37:g.201052298C>T	ENSP00000355192:p.Arg462His						p.R462H	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			9	1612	-			462					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1385G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756982	0.00657	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.53	-0.908	0.10517	.	1.038830	0.07484	N	0.904426	D	0.89736	0.6801	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81165	-0.1057	10	0.17832	T	0.49	.	6.0446	0.19752	0.122:0.3748:0.0:0.5032	.	462	Q13698	CAC1S_HUMAN	H	462	ENSP00000355192:R462H;ENSP00000356307:R462H	ENSP00000355192:R462H	R	-	2	0	CACNA1S	199318921	0.000000	0.05858	0.073000	0.20177	0.029000	0.11900	0.171000	0.16685	-0.065000	0.13021	-1.246000	0.01523	CGT		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201052298	C	T	201052298	3	4	97	1	0	0	0	0	1	0	0	0	2547	536	19	1	4376	1	CACNA1S	1	201052298	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	16287852	201052298	48198323	3	6633											
KLHL12	59349	broad.mit.edu	37	chr1	202862387	202862387	+	Frame_Shift_Del	DEL	C	C	-																															cctgcaattgcatagagtctCccccgaagcactgtggcccc																										TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:202862387delC	ENST00000367261.3	-	11	1778	c.1560delG	c.(1558-1560)gggfs	p.G520fs	KLHL12_ENST00000435533.3_Frame_Shift_Del_p.G558fs|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	520	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATAGAGTCTCCCCCGAAGCA	0.468																																						uc001gyo.1																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1558-1560)gggfs		Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.							140	134	136					1																	202862387		2203	4300	6503	SO:0001589	frameshift_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202862387delC	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1560delG	1.37:g.202862387delC	ENSP00000356230:p.Gly520fs					KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	p.G520fs	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1760	-			520			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Del	DEL	ENST00000367261.3	37	c.1560delG	CCDS1429.1																																																																																				0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		-	202862387	C	-	202862387	7	5	97	1	0	1	0	1	0	0	0	0	8368	842	30	0	154	0	KLHL12	1	202862387	Frame_Shift_Del	DEL	C	TCGA-06-5859-01A-01D-1696-08	1810089	202862387	46388234	4	6634											
CCDC85A	114800	broad.mit.edu	37	chr2	56599613	56599613	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcctgcctactctcccGgtgagtgaagatgagtcagc	8	9	12	12	2	2	4	1	3	1	1	3	5	2	4	3	1	4	0	3	1	2	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:56599613G>A	ENST00000407595.2	+	4	1954	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	484										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACTCTCCCGGTGAGTGAAG	0.517																																						uc002rzn.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.e4+1		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							34	38	36					2																	56599613		2000	4174	6174	SO:0001630	splice_region_variant	114800							g.chr2:56599613G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1452+1G>A	2.37:g.56599613G>A						CCDC85A_uc021vhw.1_Intron	p.P484_splice	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1954	+			484						Silent	SNP	ENST00000407595.2	37	c.1452_splice	CCDS46290.1																																																																																				0.517	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		Silent	A	56599613	G	A	56599613	5	1	97	1	0	0	0	0	0	0	1	0	2859	1130	39	2	1466	2	CCDC85A	2	56599613	Splice_Site	SNP	G	TCGA-06-5859-01A-01D-1696-08		56599613	186599760	5	6635											
BCL11A	53335	broad.mit.edu	37	chr2	60688423	60688423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgacgtcgggcagggCgcggctctcgtcgcccacgc	4	6	15	16	7	1	1	0	1	1	0	4	1	1	1	1	3	1	3	1	3	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:60688423C>T	ENST00000335712.6	-	4	1851	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.A508T|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.A542T|BCL11A_ENST00000537768.1_Missense_Mutation_p.A211T|BCL11A_ENST00000358510.4_Missense_Mutation_p.A508T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	542					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGGGCAGGGCGCGGCTCTCG	0.701			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1624-1626)Gcc>Acc		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							17	17	17					2																	60688423		2192	4280	6472	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688423C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1624G>A	2.37:g.60688423C>T	ENSP00000338774:p.Ala542Thr					BCL11A_uc002sab.3_Missense_Mutation_p.A542T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A211T|BCL11A_uc010ypj.2_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	p.A542T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	1852	-			542					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1624G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	2.212	-0.380501	0.05000	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08282	3.11;3.4;3.28;3.4;3.34	5.46	-0.305	0.12784	.	5.843420	0.00659	N	0.000591	T	0.04815	0.0130	N	0.14661	0.345	0.30836	N	0.736239	B;B;B;B;B	0.33549	0.362;0.003;0.0;0.057;0.417	B;B;B;B;B	0.27170	0.077;0.002;0.001;0.008;0.054	T	0.25779	-1.0122	10	0.34782	T	0.22	2.2061	3.1564	0.06505	0.2503:0.326:0.3348:0.0888	.	508;211;508;542;542	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	T	542;567;508;211;542;508	ENSP00000349300:A542T;ENSP00000438303:A508T;ENSP00000443712:A211T;ENSP00000338774:A542T;ENSP00000351307:A508T	ENSP00000338774:A542T	A	-	1	0	BCL11A	60541927	0.977000	0.34250	0.785000	0.31869	0.090000	0.18270	2.468000	0.45102	0.014000	0.14944	-0.142000	0.14014	GCC		0.701	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		T	60688423	C	T	60688423	3	4	97	1	0	0	0	0	1	0	0	0	1363	768	27	1	993	1	BCL11A	2	60688423	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	4088810	60688423	182510950	6	6636											
SGPP2	130367	broad.mit.edu	37	chr2	223423423	223423423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggaattgtgttgatcCtcttggttcgtcagcttgta	6	16	12	7	1	2	1	1	1	1	0	4	2	3	2	1	2	1	4	1	2	2	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:223423423C>T	ENST00000321276.7	+	5	1092	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	336					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTGTTGATCCTCTTGGTTCG	0.478																																						uc010zlo.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18						c.(1006-1008)Ctc>Ttc		Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.							126	117	120					2																	223423423		2203	4300	6503	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223423423C>T	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.1006C>T	2.37:g.223423423C>T	ENSP00000315137:p.Leu336Phe					SGPP2_uc010zlp.2_Missense_Mutation_p.L208F	p.L336F	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	4	1006	+		Renal(207;0.0376)	336					A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.1006C>T	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151424	0.38021	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.4	3.27	0.37495	.	0.241765	0.35407	N	0.003234	T	0.43743	0.1261	L	0.34521	1.04	0.46654	D	0.999146	B	0.19331	0.035	B	0.15484	0.013	T	0.29027	-1.0025	9	0.21014	T	0.42	-23.0354	12.9184	0.58218	0.0:0.8458:0.0:0.1542	.	336	Q8IWX5	SGPP2_HUMAN	F	336	.	ENSP00000315137:L336F	L	+	1	0	SGPP2	223131667	0.777000	0.28628	0.999000	0.59377	0.996000	0.88848	0.137000	0.15995	1.290000	0.44636	0.655000	0.94253	CTC		0.478	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			T	223423423	C	T	223423423	3	4	97	1	0	0	0	0	1	0	0	0	14220	681	24	3	1024	3	SGPP2	2	223423423	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	162735000	223423423	19775950	7	6637											
LHFPL4	375323	broad.mit.edu	37	chr3	9594193	9594193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggaagaggccgaagtaGccaggcttgggggtgctcac	9	7	17	8	1	1	1	1	0	0	1	1	3	1	2	2	5	2	3	2	5	4	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:9594193G>T	ENST00000287585.6	-	2	456	c.171C>A	c.(169-171)ggC>ggA	p.G57G	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	71						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCCGAAGTAGCCAGGCTTGG	0.652																																						uc003bry.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(169-171)ggC>ggA		Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.							45	51	49					3																	9594193		2203	4300	6503	SO:0001819	synonymous_variant	375323					integral to membrane		g.chr3:9594193G>T	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.171C>A	3.37:g.9594193G>T							p.G57G	NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN			1	457	-	Medulloblastoma(99;0.227)		57					A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	c.171C>A	CCDS33691.1																																																																																				0.652	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		T	9594193	G	T	9594193	2	4	97	1	0	0	0	0	0	0	0	1	8767	958	34	5		5	LHFPL4	3	9594193	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		9594193	188428237	8	6638											
NPRL2	10641	broad.mit.edu	37	chr3	50386328	50386328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtagtgaggtcccactGtgagttgaagaaatcctcct	9	13	11	8	0	0	4	0	3	0	1	3	4	3	4	3	1	0	2	3	1	3	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50386328G>A	ENST00000232501.3	-	5	1000	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CYB561D2_ENST00000232508.5_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	188					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTCCCACTGTGAGTTGAAG	0.537																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(562-564)Cag>Tag		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.							152	140	144					3																	50386328		2203	4300	6503	SO:0001587	stop_gained	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50386328G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.562C>T	3.37:g.50386328G>A	ENSP00000232501:p.Gln188*					CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.Q188*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			4	965	-			188					A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	37	c.562C>T	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	39	7.625877	0.98396	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.4319	19.5689	0.95404	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000232501:Q188X	Q	-	1	0	NPRL2	50361332	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.777000	0.99008	2.626000	0.88956	0.655000	0.94253	CAG		0.537	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		A	50386328	G	A	50386328	4	1	97	1	0	0	0	0	0	1	0	0	10597	1386	48	3	608	3	NPRL2	3	50386328	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	40792135	50386328	147636102	9	6639											
NPRL2	10641	broad.mit.edu	37	chr3	50387415	50387416	+	Frame_Shift_Del	DEL	TG	TG	-																															gtgatgatgtacacttggacTgtgtcaaacagctctcggga																										TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50387415_50387416delTG	ENST00000232501.3	-	2	554_555	c.116_117delCA	c.(115-117)acafs	p.T39fs	CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	39	Interaction with PDPK1.				negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						ACACTTGGACTGTGTCAAACAG	0.559																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(115-117)acafs		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.																																				SO:0001589	frameshift_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50387415_50387416delTG	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.116_117delCA	3.37:g.50387417_50387418delTG	ENSP00000232501:p.Thr39fs					CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.T39fs	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			1	519_520	-			39			Interaction with PDPK1.		A8K831|Q6FGS2|Q9Y249|Q9Y497	Frame_Shift_Del	DEL	ENST00000232501.3	37	c.116_117delCA	CCDS2826.1																																																																																				0.559	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		-	50387416	TG	-	50387415	7	5	97	1	0	1	0	1	0	0	0	0	10597	1567	55	0	1065	0	NPRL2	3	50387415	Frame_Shift_Del	DEL	TG	TCGA-06-5859-01A-01D-1696-08	1087	50387415	147635015	10	6640											
KLHL6	89857	broad.mit.edu	37	chr3	183226008	183226008	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggggagtaagcagagtcGttctgatggcttgtgccgga	9	10	16	6	2	1	2	0	1	1	1	2	4	1	4	1	4	2	4	1	4	2	4			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:183226008G>A	ENST00000341319.3	-	3	783	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	250	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGCAGAGTCGTTCTGATGGC	0.552																																						uc003flr.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(748-750)Cga>Tga		Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.							161	141	148					3																	183226008		2203	4300	6503	SO:0001587	stop_gained	89857							g.chr3:183226008G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.748C>T	3.37:g.183226008G>A	ENSP00000341342:p.Arg250*					KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Nonsense_Mutation_p.R248*	p.R250*	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		2	806	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		250			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Nonsense_Mutation	SNP	ENST00000341319.3	37	c.748C>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	36	5.844758	0.97016	.	.	ENSG00000172578	ENST00000341319	.	.	.	5.87	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3164	0.74081	0.0:0.0:0.6375:0.3625	.	.	.	.	X	250	.	ENSP00000341342:R250X	R	-	1	2	KLHL6	184708702	0.946000	0.32159	0.985000	0.45067	0.958000	0.62258	1.228000	0.32588	1.582000	0.49881	0.655000	0.94253	CGA		0.552	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		A	183226008	G	A	183226008	4	1	97	1	0	0	0	0	0	1	0	0	8393	1153	40	1	1137	1	KLHL6	3	183226008	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	132838593	183226008	14796422	11	6641											
PDS5A	23244	broad.mit.edu	37	chr4	39865056	39865056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcactaccagcagctaatCgcaagcgagacatatcagat	14	7	9	11	2	1	2	1	0	0	2	2	3	1	2	1	1	4	4	1	1	4	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:39865056C>T	ENST00000303538.8	-	24	3205	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGCAGCTAATCGCAAGCGAGA	0.348																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2665-2667)cGa>cAa		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							69	66	67					4																	39865056		1860	4109	5969	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39865056C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2666G>A	4.37:g.39865056C>T	ENSP00000303427:p.Arg889Gln						p.R889Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			23	3206	-			889						Missense_Mutation	SNP	ENST00000303538.8	37	c.2666G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726650	0.96847	.	.	ENSG00000121892	ENST00000303538	T	0.70869	-0.52	5.21	5.21	0.72293	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85930	0.1451	9	.	.	.	-5.9805	18.7467	0.91795	0.0:1.0:0.0:0.0	.	889	Q29RF7	PDS5A_HUMAN	Q	889	ENSP00000303427:R889Q	.	R	-	2	0	PDS5A	39541451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	CGA		0.348	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		T	39865056	C	T	39865056	3	4	97	1	0	0	0	0	1	0	0	0	11691	884	31	2	1387	2	PDS5A	4	39865056	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		39865056	151289220	12	6642											
FRAS1	80144	broad.mit.edu	37	chr4	79350365	79350365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcggtcagcccaggaGgcagcacttctgtaggtaag	8	7	16	10	1	2	0	1	0	1	0	2	1	2	1	1	6	2	5	1	6	2	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:79350365G>A	ENST00000325942.6	+	36	5268	c.4828G>A	c.(4828-4830)Ggc>Agc	p.G1610S	FRAS1_ENST00000264895.6_Missense_Mutation_p.G1610S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1610					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCAGGAGGCAGCACTTC	0.527																																						uc003hlb.2																			0		p.G1610G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4828-4830)Ggc>Agc		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							44	46	46					4																	79350365		2036	4181	6217	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79350365G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4828G>A	4.37:g.79350365G>A	ENSP00000326330:p.Gly1610Ser					FRAS1_uc003hkw.3_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.2_Missense_Mutation_p.G30S	p.G1610S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			35	5268	+			1609					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4828G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.65|19.65	3.866883|3.866883	0.72065|0.72065	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944	T;T|.	0.58652|.	0.32;0.32|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.056139|.	0.64402|.	D|.	0.000001|.	T|T	0.75561|0.75561	0.3866|0.3866	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.76071|.	0.924;0.987|.	T|T	0.73316|0.73316	-0.4021|-0.4021	10|5	0.66056|.	D|.	0.02|.	.|.	19.6299|19.6299	0.95698|0.95698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1610;1610|.	E9PHH6;A2RRR8|.	.;.|.	S|K	1610;1610;30|59	ENSP00000326330:G1610S;ENSP00000264895:G1610S|.	ENSP00000264895:G1610S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79569389|79569389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.119000|0.119000	0.20118|0.20118	7.305000|7.305000	0.78891|0.78891	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79350365	G	A	79350365	3	1	97	1	0	0	0	0	1	0	0	0	6042	1000	35	3	4970	3	FRAS1	4	79350365	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	39485309	79350365	111803911	13	6643											
TRIML1	339976	broad.mit.edu	37	chr4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagatttgaccagtctgCgactgtgctgggtactcaga	10	10	13	8	1	2	3	1	1	1	2	2	5	2	4	1	2	3	2	1	2	2	2	rs147254109		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													c|||	1	0.000199681	8e-04	0	5008	,	,		17404	0		0	False		,,,				2504	0				Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)	p.A328V(2)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(982-984)gCg>gTg		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	98	92	94		983	4.9	1	4	dbSNP_134	94	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	328/469	189068102	2,13004	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068102C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.983C>T	4.37:g.189068102C>T	ENSP00000327738:p.Ala328Val					TRIML1_uc003izn.1_Missense_Mutation_p.A52V	p.A328V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1098	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	328			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.983C>T	CCDS3851.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.92	2.081718	0.36758	4.54E-4	0.0	ENSG00000184108	ENST00000332517	T	0.12147	2.71	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.53938	D	0.000060	T	0.11707	0.0285	L	0.42008	1.315	0.32138	N	0.585837	P	0.48834	0.916	B	0.42422	0.387	T	0.04041	-1.0982	10	0.17369	T	0.5	-22.406	9.4112	0.38494	0.0:0.9057:0.0:0.0943	.	328	Q8N9V2	TRIML_HUMAN	V	328	ENSP00000327738:A328V	ENSP00000327738:A328V	A	+	2	0	TRIML1	189305096	0.000000	0.05858	0.970000	0.41538	0.418000	0.31294	0.050000	0.14120	2.749000	0.94314	0.550000	0.68814	GCG		0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189068102	C	T	189068102	3	4	97	1	0	0	0	0	1	0	0	0	16547	768	27	1	1005	1	TRIML1	4	189068102	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	109717737	189068102	2086174	14	6644											
DNAH5	1767	broad.mit.edu	37	chr5	13762882	13762882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggaagccatagctttCgtccaggaacaaagaccagc	16	5	10	10	1	0	2	0	0	0	2	2	4	1	4	3	2	4	1	3	2	6	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:13762882C>T	ENST00000265104.4	-	60	10334	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3410	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10228-10230)acG>acA		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							87	85	86					5																	13762882		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762882C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10230G>A	5.37:g.13762882C>T						DNAH5_uc003jfc.2_5'UTR	p.T3410T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10272	-	Lung NSC(4;0.00476)		3410			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10230G>A	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13762882	C	T	13762882	2	4	97	1	0	0	0	0	0	0	0	1	4604	871	31	2		2	DNAH5	5	13762882	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		13762882	167152378	15	6645											
OCLN	100506658	broad.mit.edu	37	chr5	68805301	68805301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggttatggctatggctaCggaggctatacagacccaag	11	10	12	8	1	0	1	0	0	0	1	0	2	0	2	1	5	2	4	1	5	7	6	rs150730577	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:68805301C>T	ENST00000355237.2	+	3	820	c.384C>T	c.(382-384)taC>taT	p.Y128Y	OCLN_ENST00000380766.2_Silent_p.Y128Y|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Silent_p.Y128Y	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	128	Gly/Tyr-rich.|MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		gctatggctaCGGAGGCTATA	0.488																																						uc003jwu.3																			0		p.Y128H(1)		endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(382-384)taC>taT		Homo sapiens occludin (OCLN), transcript variant 1, mRNA.		C	,,	3,4403	6.2+/-15.9	0,3,2200	123	95	105		384,,384	-10	0.1	5	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	OCLN	NM_001205254.1,NM_001205255.1,NM_002538.3	,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,	128/523,,128/523	68805301	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4950				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805301C>T	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.384C>T	5.37:g.68805301C>T						OCLN_uc003jwv.4_Silent_p.Y128Y|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	p.Y128Y	NM_002538	NP_001192184	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	2	820	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	128			Gly/Tyr-rich.|MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	c.384C>T	CCDS4006.1																																																																																				0.488	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		T	68805301	C	T	68805301	2	4	97	1	0	0	0	0	0	0	0	1	10820	547	19	1		1	OCLN	5	68805301	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	55042419	68805301	112109959	16	6646											
ADAMTS19	171019	broad.mit.edu	37	chr5	129015540	129015540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttggctggaactaccGttcattatgtaagacgaggc	11	12	10	8	2	2	1	2	0	0	1	2	3	2	2	1	3	2	3	1	3	5	5	rs149851287		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:129015540G>A	ENST00000274487.4	+	17	2717	c.2572G>A	c.(2572-2574)Gtt>Att	p.V858I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	858	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGAACTACCGTTCATTATGT	0.433													G|||	1	0.000199681	0	0	5008	,	,		17177	0		0.001	False		,,,				2504	0					uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2572-2574)Gtt>Att		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	98	98	98		2572	3.7	0.6	5	dbSNP_134	98	0,8600		0,0,4300	yes	missense	ADAMTS19	NM_133638.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	858/1208	129015540	2,13004	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129015540G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2572G>A	5.37:g.129015540G>A	ENSP00000274487:p.Val858Ile					ADAMTS19_uc010jdh.1_Non-coding_Transcript	p.V858I	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	16	2572	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	858			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2572G>A	CCDS4146.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.40	3.111945	0.56398	4.54E-4	0.0	ENSG00000145808	ENST00000274487	T	0.52057	0.68	4.54	3.67	0.42095	ADAM-TS Spacer 1 (1);	0.173640	0.35903	N	0.002903	T	0.37019	0.0988	N	0.26130	0.795	0.47698	D	0.999491	D	0.55385	0.971	P	0.44673	0.457	T	0.13442	-1.0509	9	.	.	.	.	13.4779	0.61318	0.0769:0.0:0.9231:0.0	.	858	Q8TE59	ATS19_HUMAN	I	858	ENSP00000274487:V858I	.	V	+	1	0	ADAMTS19	129043439	1.000000	0.71417	0.647000	0.29507	0.524000	0.34500	7.027000	0.76463	1.500000	0.48636	0.650000	0.86243	GTT		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	129015540	G	A	129015540	3	1	97	1	0	0	0	0	1	0	0	0	264	1145	40	1	2638	1	ADAMTS19	5	129015540	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	60210239	129015540	51899720	17	6647											
CARD11	84433	broad.mit.edu	37	chr7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcattgtagctgtcccGctcttccttcatcttgtagt	4	17	7	13	2	4	0	2	0	2	0	7	0	6	0	2	0	1	4	2	0	2	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:2983971G>A	ENST00000396946.4	-	5	962	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	187					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL																																	uc003smv.3				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(559-561)Cgg>Tgg		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.							248	154	186					7																	2983971		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983971G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.559C>T	7.37:g.2983971G>A	ENSP00000380150:p.Arg187Trp						p.R187W	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	893	-		Ovarian(82;0.0115)	187					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.559C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710363	0.48517	.	.	ENSG00000198286	ENST00000396946	T	0.36157	1.27	4.46	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.20881	0.62	0.52099	D	0.999945	B	0.27971	0.196	B	0.17722	0.019	T	0.05632	-1.0873	10	0.37606	T	0.19	-27.5118	7.2254	0.26012	0.0992:0.0:0.6097:0.2911	.	187	Q9BXL7	CAR11_HUMAN	W	187	ENSP00000380150:R187W	ENSP00000380150:R187W	R	-	1	2	CARD11	2950497	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	2.135000	0.42112	1.000000	0.39049	0.561000	0.74099	CGG		0.557	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2983971	G	A	2983971	3	1	97	1	0	0	0	0	1	0	0	0	2645	1086	38	1	2989	1	CARD11	7	2983971	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		2983971	156154692	18	6648											
HERPUD2	64224	broad.mit.edu	37	chr7	35712865	35712865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcagtctgcccgaataCaccaatctctgatccttcgt	10	10	8	13	2	2	1	0	1	2	0	5	3	3	2	3	1	3	1	3	1	4	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:35712865C>T	ENST00000396081.1	-	2	975	c.171G>A	c.(169-171)gtG>gtA	p.V57V	HERPUD2_ENST00000311350.3_Silent_p.V57V	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCCCGAATACACCAATCTCT	0.373																																						uc003tes.4																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(169-171)gtG>gtA		Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.							113	109	110					7																	35712865		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35712865C>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.171G>A	7.37:g.35712865C>T						HERPUD2_uc003tet.3_Silent_p.V57V	p.V57V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			2	830	-			57			Ubiquitin-like.		A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.171G>A	CCDS5446.1																																																																																				0.373	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		T	35712865	C	T	35712865	2	4	97	1	0	0	0	0	0	0	0	1	7064	465	17	3		3	HERPUD2	7	35712865	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	32728894	35712865	123425798	19	6649											
FAM40B	57464	broad.mit.edu	37	chr7	129104580	129104580	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactcaaccatatctaccagGtgagcagctaggagcacttc	13	8	8	12	0	2	1	1	1	1	0	3	2	2	2	2	2	6	3	2	2	5	4			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:129104580G>A	ENST00000249344.2	+	16	1816		c.e16+1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TATCTACCAGGTGAGCAGCTA	0.468																																						uc011koy.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e16+1		Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.							123	119	120					7																	129104580		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129104580G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1776+1G>A	7.37:g.129104580G>A						FAM40B_uc003vow.3_Splice_Site_p.Q592_splice|FAM40B_uc011koz.2_Splice_Site_p.Q84_splice	p.Q592_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			16	1816	+			592					Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37	c.1776_splice	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083909	0.76642	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0999	0.89503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128891816	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	.		0.468	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron	A	129104580	G	A	129104580	5	1	97	1	0	0	0	0	0	0	1	0	5561	1275	44	3	1839	3	FAM40B	7	129104580	Splice_Site	SNP	G	TCGA-06-5859-01A-01D-1696-08	93391715	129104580	30034083	20	6650											
CREB3L2	64764	broad.mit.edu	37	chr7	137686380	137686380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagggcctcgccgtccccGggctctgacagctcgctcag	5	7	13	16	4	2	2	1	2	1	0	5	2	3	2	4	2	1	3	4	2	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:137686380G>A	ENST00000330387.6	-	1	423	c.72C>T	c.(70-72)ccC>ccT	p.P24P	CREB3L2_ENST00000452463.1_Silent_p.P24P|CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000456390.1_Silent_p.P24P	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	24					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGCCGTCCCCGGGCTCTGACA	0.706			T	FUS	fibromyxoid sarcoma																																	uc003vtw.3				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(70-72)ccC>ccT		Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.							33	34	34					7																	137686380		2203	4299	6502	SO:0001819	synonymous_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137686380G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.72C>T	7.37:g.137686380G>A						CREB3L2_uc003vtx.2_Silent_p.P24P|CREB3L2_uc003vty.4_Silent_p.P24P|AKR1D1_uc011kqd.1_5'Flank|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank	p.P24P	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			0	468	-			24					Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	c.72C>T	CCDS34760.1																																																																																				0.706	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		A	137686380	G	A	137686380	2	1	97	1	0	0	0	0	0	0	0	1	3857	1103	39	2		2	CREB3L2	7	137686380	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08	8581800	137686380	21452283	21	6651											
TAS2R60	338398	broad.mit.edu	37	chr7	143140562	143140562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgaatggagaccacaTggttctaggatcttcggtga	12	10	13	6	1	2	4	0	2	2	2	3	7	2	5	1	4	0	1	1	4	2	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:143140562T>C	ENST00000332690.1	+	1	17	c.17T>C	c.(16-18)aTg>aCg	p.M6T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	6					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGAGACCACATGGTTCTAGGA	0.468																																						uc011ktg.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(16-18)aTg>aCg		Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.							182	172	176					7																	143140562		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140562T>C	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.17T>C	7.37:g.143140562T>C	ENSP00000327724:p.Met6Thr					LOC285965_uc003wda.3_Intron	p.M6T	NM_177437	NP_803186	P59551	T2R60_HUMAN			0	17	+	Melanoma(164;0.172)		6					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.17T>C	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	T	3.364	-0.129801	0.06753	.	.	ENSG00000185899	ENST00000332690	T	0.36520	1.25	5.53	-4.85	0.03142	.	1.306110	0.05758	N	0.604461	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18429	-1.0337	10	0.19590	T	0.45	.	3.3311	0.07084	0.1371:0.4565:0.1403:0.2662	.	6	P59551	T2R60_HUMAN	T	6	ENSP00000327724:M6T	ENSP00000327724:M6T	M	+	2	0	TAS2R60	142850684	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.762000	0.04745	-0.595000	0.05828	-0.256000	0.11100	ATG		0.468	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			C	143140562	T	C	143140562	3	2	97	1	0	0	0	0	1	0	0	0	15582	1464	51	4	19	4	TAS2R60	7	143140562	Missense_Mutation	SNP	T	TCGA-06-5859-01A-01D-1696-08	5454182	143140562	15998101	22	6652											
SSPO	23145	broad.mit.edu	37	chr7	149509076	149509076	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggtgccatcggcacCggttctgtgccaggtccccc	3	8	12	18	3	1	0	0	0	1	0	3	0	2	0	6	4	3	2	6	4	0	1	rs139588484	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:149509076C>T	ENST00000378016.2	+	0	9622							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATCGGCACCGGTTCTGTGC	0.687													C|||	3	0.000599042	0	0.0014	5008	,	,		14959	0		0.002	False		,,,				2504	0					uc010lpk.3																			0											c.(9613-9615)Cgg>Tgg		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							29	33	32					7																	149509076		1996	4157	6153			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509076C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509076C>T							p.R3205W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		67	9613	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3208			TSP type-1 11.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9613C>T																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149509076	C	T	149509076	1	4	97	0	1	0	0	0	0	0	0	0	15188	643	23	2		2	SSPO	7	149509076	RNA	SNP	C	TCGA-06-5859-01A-01D-1696-08	6368514	149509076	9629587	23	6653											
DOCK5	80005	broad.mit.edu	37	chr8	25181427	25181427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgatgaacccggatggcaCcactctgcaggatgggaggc	9	6	15	11	1	1	2	0	2	1	0	1	5	1	5	2	5	2	3	2	5	1	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:25181427C>A	ENST00000276440.7	+	17	1723	c.1679C>A	c.(1678-1680)aCc>aAc	p.T560N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	560	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGATGGCACCACTCTGCAG	0.488																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1678-1680)aCc>aAc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							92	77	82					8																	25181427		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25181427C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1679C>A	8.37:g.25181427C>A	ENSP00000276440:p.Thr560Asn					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.3_Missense_Mutation_p.T130N|DOCK5_uc003xej.3_5'Flank	p.T560N	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	16	1816	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	560			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1679C>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145113|5.145113	0.94603|0.94603	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.15256	.|2.44	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54159|0.54159	0.1841|0.1841	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.986;0.999	.|D;D;D	.|0.75020	.|0.985;0.98;0.985	T|T	0.64433|0.64433	-0.6409|-0.6409	5|10	.|0.72032	.|D	.|0.01	.|.	19.8379|19.8379	0.96666|0.96666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|550;335;560	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	Q|N	331|560	.|ENSP00000276440:T560N	.|ENSP00000276440:T560N	H|T	+|+	3|2	2|0	DOCK5|DOCK5	25237344|25237344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.776000|7.776000	0.85560|0.85560	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.488	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25181427	C	A	25181427	3	1	97	1	0	0	0	0	1	0	0	0	4690	507	18	5	1745	5	DOCK5	8	25181427	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		25181427	121182595	24	6654											
TEX15	56154	broad.mit.edu	37	chr8	30700338	30700338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtttctgagaccatgaCgatttcaatatacatttcaa	14	15	5	7	1	3	2	2	2	1	1	3	4	3	2	1	0	1	1	1	0	5	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:30700338C>T	ENST00000256246.2	-	1	6270	c.6196G>A	c.(6196-6198)Gtc>Atc	p.V2066I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2066					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGACCATGACGATTTCAATA	0.338																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6196-6198)Gtc>Atc		Homo sapiens testis expressed 15 (TEX15), mRNA.							43	44	44					8																	30700338		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30700338C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6196G>A	8.37:g.30700338C>T	ENSP00000256246:p.Val2066Ile						p.V2066I	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	6196	-			2066						Missense_Mutation	SNP	ENST00000256246.2	37	c.6196G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.264	0.605693	0.14002	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	5.33	3.46	0.39613	.	0.550750	0.16208	N	0.224613	T	0.15912	0.0383	L	0.59436	1.845	0.09310	N	0.999997	P	0.50066	0.931	B	0.42062	0.374	T	0.08452	-1.0721	10	0.87932	D	0	.	10.1728	0.42920	0.1437:0.5782:0.2781:0.0	.	2066	Q9BXT5	TEX15_HUMAN	I	2066	ENSP00000256246:V2066I	ENSP00000256246:V2066I	V	-	1	0	TEX15	30819880	0.002000	0.14202	0.503000	0.27626	0.455000	0.32408	0.087000	0.14958	0.685000	0.31468	0.585000	0.79938	GTC		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30700338	C	T	30700338	3	4	97	1	0	0	0	0	1	0	0	0	15776	536	19	1	2189	1	TEX15	8	30700338	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	5518911	30700338	115663684	25	6655											
PCMTD1	115294	broad.mit.edu	37	chr8	52733200	52733200	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccccttggcctgcatcTcatcatttatgaaatttcta	10	15	5	11	0	3	1	2	1	2	0	5	2	4	1	3	1	1	1	3	1	4	5			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:52733200T>A	ENST00000360540.5	-	7	1191	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PCMTD1_ENST00000522514.1_Missense_Mutation_p.E262V|PCMTD1_ENST00000544451.1_Missense_Mutation_p.E186V|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	262						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCCTGCATCTCATCATTTAT	0.408																																						uc003xqx.4																			0		p.E262E(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(784-786)gAg>gTg		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							92	97	95					8																	52733200		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733200T>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.785A>T	8.37:g.52733200T>A	ENSP00000353739:p.Glu262Val					PCMTD1_uc011ldm.2_Missense_Mutation_p.E132V|PCMTD1_uc011ldn.2_Missense_Mutation_p.E74V|PCMTD1_uc010lya.3_Missense_Mutation_p.E186V	p.E262V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1126	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	262					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.785A>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313125	0.81358	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.48522	0.81;0.81;0.81	5.77	5.77	0.91146	.	0.156649	0.56097	D	0.000025	T	0.61677	0.2366	L	0.46614	1.455	0.80722	D	1	D;D;B	0.76494	0.966;0.999;0.047	P;D;B	0.68943	0.543;0.961;0.023	T	0.60586	-0.7234	10	0.44086	T	0.13	-22.3297	16.0858	0.81049	0.0:0.0:0.0:1.0	.	132;186;262	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	V	262;186;262	ENSP00000353739:E262V;ENSP00000444026:E186V;ENSP00000428099:E262V	ENSP00000353739:E262V	E	-	2	0	PCMTD1	52895753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.244000	0.78228	2.198000	0.70561	0.533000	0.62120	GAG		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52733200	T	A	52733200	3	1	97	1	0	0	0	0	1	0	0	0	11586	1551	54	5	292	5	PCMTD1	8	52733200	Missense_Mutation	SNP	T	TCGA-06-5859-01A-01D-1696-08	22032862	52733200	93630822	26	6656											
TCEA1	6917	broad.mit.edu	37	chr8	54897020	54897020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttaagatttgatatcCtacttcgtactctatttttg	9	20	4	8	1	2	2	0	1	2	1	4	2	3	2	1	0	2	1	1	0	5	10			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:54897020C>T	ENST00000521604.2	-	7	984	c.581G>A	c.(580-582)aGg>aAg	p.R194K	TCEA1_ENST00000396401.3_Missense_Mutation_p.R173K|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	194	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGATATCCTACTTCGTAC	0.333			T	PLAG1	salivary adenoma																																	uc003xru.3				Dom	yes		8	8q11.2	6917	T	"transcription elongation factor A (SII), 1"			E	PLAG1		salivary adenoma		0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(580-582)aGg>aAg		Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.							79	66	70					8																	54897020		1801	4059	5860	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54897020C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"General transcription factors"	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.581G>A	8.37:g.54897020C>T	ENSP00000428426:p.Arg194Lys					TCEA1_uc003xrv.3_Missense_Mutation_p.R173K|TCEA1_uc011ldw.2_Intron|TCEA1_uc010lyg.3_Non-coding_Transcript	p.R194K	NM_006756	NP_006747	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		6	904	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	194			TFIIS central.		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.581G>A	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470826	0.96274	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.42131	0.98;0.98	5.15	5.15	0.70609	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.66378	2.025	0.80722	D	1	D;P	0.62365	0.991;0.95	D;P	0.63703	0.917;0.859	T	0.66360	-0.5943	10	0.87932	D	0	-26.8695	18.9917	0.92794	0.0:1.0:0.0:0.0	.	173;194	P23193-2;P23193	.;TCEA1_HUMAN	K	173;194	ENSP00000395483:R173K;ENSP00000428426:R194K	ENSP00000395483:R173K	R	-	2	0	TCEA1	55059573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.572000	0.86782	0.491000	0.48974	AGG		0.333	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		T	54897020	C	T	54897020	3	4	97	1	0	0	0	0	1	0	0	0	15664	681	24	3	340	3	TCEA1	8	54897020	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	2163820	54897020	91467002	27	6657											
OPLAH	26873	broad.mit.edu	37	chr8	145108275	145108275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggggaccttgcctggcGcccgcagggcctccgtcacc	4	7	14	16	3	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	0	2	rs560233274		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:145108275G>A	ENST00000426825.1	-	20	2789	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	903					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGCCTGGCGCCCGCAGGGC	0.642													G|||	1	0.000199681	0	0	5008	,	,		17628	0		0.001	False		,,,				2504	0					uc003zar.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2707-2709)gCg>gTg		Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	L-Glutamic Acid(DB00142)						47	56	53					8																	145108275		2091	4211	6302	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108275G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2708C>T	8.37:g.145108275G>A	ENSP00000475943:p.Ala903Val					OPLAH_uc003zas.1_Silent_p.G177G	p.A903V	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		19	2790	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		903					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2708C>T		.	.	.	.	.	.	.	.	.	.	G	13.35	2.210938	0.39102	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	.	.	.	0.48762	D	0.999704	D	0.61697	0.99	P	0.54590	0.756	T	0.76937	-0.2774	7	0.54805	T	0.06	.	14.8067	0.69962	0.0:0.0:1.0:0.0	.	903	O14841	OPLA_HUMAN	V	903	.	ENSP00000412071:A903V	A	-	2	0	OPLAH	145180263	1.000000	0.71417	0.942000	0.38095	0.680000	0.39746	4.869000	0.63028	2.069000	0.61940	0.448000	0.29417	GCG		0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		A	145108275	G	A	145108275	3	1	97	1	0	0	0	0	1	0	0	0	10876	1087	38	1	1192	1	OPLAH	8	145108275	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	90211255	145108275	1255747	28	6658											
TLE4	7091	broad.mit.edu	37	chr9	82333807	82333807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgagacacgtgtacaCgggtgggaagggctgcgtca	9	5	15	12	4	1	1	1	0	0	1	1	3	1	2	2	3	2	2	2	3	2	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:82333807C>T	ENST00000376552.2	+	15	2529	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TLE4_ENST00000376534.4_Missense_Mutation_p.T141M|TLE4_ENST00000265284.6_Missense_Mutation_p.T479M|TLE4_ENST00000376544.3_Missense_Mutation_p.T435M|TLE4_ENST00000376537.4_Missense_Mutation_p.T536M|TLE4_ENST00000376520.4_Missense_Mutation_p.T536M	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	504					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACGTGTACACGGGTGGGAAG	0.602																																						uc004ald.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1585-1587)aCg>aTg		Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.							125	120	121					9																	82333807		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82333807C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1511C>T	9.37:g.82333807C>T	ENSP00000365735:p.Thr504Met					TLE4_uc004alc.3_Missense_Mutation_p.T504M|TLE4_uc010mpr.3_Missense_Mutation_p.T383M|TLE4_uc004ale.3_Missense_Mutation_p.T141M|TLE4_uc011lsq.2_Missense_Mutation_p.T472M|TLE4_uc010mps.3_Missense_Mutation_p.T428M|TLE4_uc004alf.3_Missense_Mutation_p.T443M	p.T529M	NM_007005	NP_008936	O60756	BCE1_HUMAN			15	2435	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1586C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225324	0.95173	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;0.999;1.0	T	0.52026	-0.8630	10	0.87932	D	0	-14.2292	20.6439	0.99570	0.0:1.0:0.0:0.0	.	479;435;536;504	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	M	504;435;536;536;141;479	ENSP00000365735:T504M;ENSP00000365727:T435M;ENSP00000365703:T536M;ENSP00000365720:T536M;ENSP00000365717:T141M;ENSP00000265284:T479M	ENSP00000265284:T479M	T	+	2	0	TLE4	81523627	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	ACG		0.602	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		T	82333807	C	T	82333807	3	4	97	1	0	0	0	0	1	0	0	0	15938	536	19	1	1569	1	TLE4	9	82333807	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		82333807	58879624	29	6659											
ABL1	25	broad.mit.edu	37	chr9	133750310	133750310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttggtgaaggtagctGattttggcctgagcaggttg	8	12	14	7	0	0	3	0	3	0	0	0	3	0	3	2	4	2	4	2	4	2	5			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:133750310G>T	ENST00000318560.5	+	7	1522	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAAGGTAGCTGATTTTGGCCT	0.537			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	uc004bzw.3				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1141-1143)Gat>Tat		Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						167	145	153					9																	133750310		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133750310G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1141G>T	9.37:g.133750310G>T	ENSP00000323315:p.Asp381Tyr					ABL1_uc004bzv.3_Missense_Mutation_p.D400Y	p.D381Y	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	6	1144	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	381			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1141G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902055	0.92035	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.88354	-2.37;-2.37	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.99859	4.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99727	1.1011	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	381;418	P00519;Q59FK4	ABL1_HUMAN;.	Y	196;400;381	ENSP00000361423:D400Y;ENSP00000323315:D381Y	ENSP00000323315:D381Y	D	+	1	0	ABL1	132740131	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	9.858000	0.99539	2.450000	0.82876	0.655000	0.94253	GAT		0.537	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		T	133750310	G	T	133750310	3	4	97	1	0	0	0	0	1	0	0	0	92	1290	45	5	1307	5	ABL1	9	133750310	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	51416503	133750310	7463121	30	6660											
LHX3	8022	broad.mit.edu	37	chr9	139091685	139091685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaccacctgcgtgggcGggatgcccagctggcacgcg	5	4	17	15	5	0	0	0	0	0	0	0	1	0	1	3	4	3	3	3	4	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:139091685G>A	ENST00000371748.5	-	3	389	c.293C>T	c.(292-294)cCg>cTg	p.P98L	LHX3_ENST00000371746.3_Missense_Mutation_p.P103L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	98	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGCGTGGGCGGGATGCCCAG	0.716																																						uc004cgz.3																			0		p.I102V(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(307-309)cCg>cTg		Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.							15	13	13					9																	139091685		2194	4288	6482	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091685G>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.293C>T	9.37:g.139091685G>A	ENSP00000360813:p.Pro98Leu					LHX3_uc022bpm.1_Silent_p.P119P|LHX3_uc004cha.3_Missense_Mutation_p.P98L	p.P103L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	2	427	-		Myeloproliferative disorder(178;0.0511)	98			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.308C>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108438	0.94292	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.86694	-2.16;-2.16	4.19	4.19	0.49359	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	N	0.20574	0.59	0.80722	D	1	D;P	0.89917	1.0;0.757	D;B	0.83275	0.996;0.255	D	0.87876	0.2674	10	0.37606	T	0.19	.	15.6812	0.77371	0.0:0.0:1.0:0.0	.	98;103	Q9UBR4;F1T0D9	LHX3_HUMAN;.	L	98;103;101	ENSP00000360813:P98L;ENSP00000360811:P103L	ENSP00000319224:P101L	P	-	2	0	LHX3	138231506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.216000	0.95154	2.172000	0.68678	0.561000	0.74099	CCG		0.716	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			A	139091685	G	A	139091685	3	1	97	1	0	0	0	0	1	0	0	0	8772	1116	39	2	916	2	LHX3	9	139091685	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	5341375	139091685	2121746	31	6661											
PPME1	51400	broad.mit.edu	37	chr11	73914828	73914828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagtattttgagtccAtggaagatgtagaagtagag	13	11	14	3	0	1	4	1	1	0	3	2	6	2	6	1	2	0	3	1	2	5	5			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr11:73914828A>T	ENST00000328257.8	+	2	480	c.157A>T	c.(157-159)Atg>Ttg	p.M53L	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Missense_Mutation_p.M53L			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	53					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTTTGAGTCCATGGAAGATGT	0.373																																						uc001ouw.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(157-159)Atg>Ttg		Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.							151	143	146					11																	73914828		1810	4077	5887	SO:0001583	missense	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73914828A>T		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.157A>T	11.37:g.73914828A>T	ENSP00000329867:p.Met53Leu					PPME1_uc009yty.3_5'Flank	p.M53L	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			1	256	+	Breast(11;3.29e-05)		53					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	ENST00000328257.8	37	c.157A>T	CCDS44678.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653791	0.29425	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T	0.01304	5.03	5.89	4.76	0.60689	.	0.117666	0.85682	D	0.000000	T	0.02156	0.0067	L	0.54323	1.7	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.52801	-0.8527	10	0.31617	T	0.26	-24.895	10.9582	0.47370	0.9258:0.0:0.0741:0.0	.	53	Q9Y570	PPME1_HUMAN	L	53	ENSP00000438632:M53L	ENSP00000329867:M53L	M	+	1	0	PPME1	73592476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.523000	0.73787	1.048000	0.40298	0.533000	0.62120	ATG		0.373	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147		T	73914828	A	T	73914828	3	4	97	1	0	0	0	0	1	0	0	0	12347	217	8	5	163	5	PPME1	11	73914828	Missense_Mutation	SNP	A	TCGA-06-5859-01A-01D-1696-08		73914828	61091688	32	6662											
CLECL1	160365	broad.mit.edu	37	chr12	9885637	9885637	+	Frame_Shift_Del	DEL	A	A	-																															ctccagccattgcacagatcAaaaagagagagaagaccaca																										TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:9885637delA	ENST00000327839.3	-	1	258	c.224delT	c.(223-225)ttgfs	p.L75fs		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGCACAGATCAAAAAGAGAGA	0.423																																						uc001qwi.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(223-225)ttgfs		Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.							88	88	88					12																	9885637		2203	4300	6503	SO:0001589	frameshift_variant	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9885637delA	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"dendritic cell associated lectin 1"	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.224delT	12.37:g.9885637delA	ENSP00000331766:p.Leu75fs					CLECL1_uc001qwj.3_Frame_Shift_Del_p.L75fs	p.L75fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN			0	259	-			75						Frame_Shift_Del	DEL	ENST00000327839.3	37	c.224delT	CCDS8603.1																																																																																				0.423	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		-	9885637	A	-	9885637	7	5	97	1	0	1	0	1	0	0	0	0	3523	131	5	0	287	0	CLECL1	12	9885637	Frame_Shift_Del	DEL	A	TCGA-06-5859-01A-01D-1696-08		9885637	123966258	33	6663											
C12orf40	283461	broad.mit.edu	37	chr12	40040162	40040162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaacccatgtgaacatGaatagagacataaaaatgcc	20	6	6	9	0	0	3	0	2	0	1	0	4	0	3	3	0	4	0	3	0	8	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:40040162G>C	ENST00000324616.5	+	4	388	c.234G>C	c.(232-234)atG>atC	p.M78I	C12orf40_ENST00000398716.1_Start_Codon_SNP_p.M1I|C12orf40_ENST00000405531.3_Missense_Mutation_p.M78I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	78										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGTGAACATGAATAGAGACA	0.279																																						uc001rmc.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(232-234)atG>atC		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							97	88	91					12																	40040162		1800	4074	5874	SO:0001583	missense	283461							g.chr12:40040162G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.234G>C	12.37:g.40040162G>C	ENSP00000317671:p.Met78Ile					C12orf40_uc009zjv.1_Non-coding_Transcript	p.M78I	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			3	401	+			78					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.234G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380180	0.42207	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.40476	1.03;1.04	5.35	3.5	0.40072	.	0.000000	0.56097	D	0.000024	T	0.27866	0.0686	L	0.29908	0.895	0.24866	N	0.992319	B	0.30851	0.297	B	0.26202	0.067	T	0.20773	-1.0265	10	0.54805	T	0.06	.	8.7168	0.34416	0.1854:0.0:0.8146:0.0	.	78	Q86WS4	CL040_HUMAN	I	78;1;78	ENSP00000383897:M78I;ENSP00000317671:M78I	ENSP00000317671:M78I	M	+	3	0	C12orf40	38326429	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.526000	0.53509	1.401000	0.46761	-0.142000	0.14014	ATG		0.279	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		C	40040162	G	C	40040162	3	2	97	1	0	0	0	0	1	0	0	0	1686	1290	45	5	248	5	C12orf40	12	40040162	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	30154525	40040162	93811733	34	6664											
DHRS2	10202	broad.mit.edu	37	chr14	24108199	24108199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgggtagccgtggtcacGgggtccaccagtgggtgagt	7	7	17	10	3	1	1	1	1	0	0	2	1	2	1	4	5	2	1	4	5	2	1	rs372558157		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr14:24108199G>A	ENST00000250383.6	+	2	602	c.126G>A	c.(124-126)acG>acA	p.T42T	DHRS2_ENST00000344777.7_Silent_p.T42T|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	42					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCGTGGTCACGGGGTCCACCA	0.597																																						uc001wkt.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(124-126)acG>acA		Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	72	75	74		126,126	-10.8	0	14		74	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	DHRS2	NM_005794.3,NM_182908.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	42/281,42/301	24108199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108199G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.126G>A	14.37:g.24108199G>A						DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.4_Silent_p.T42T|DHRS2_uc010akv.3_Non-coding_Transcript	p.T42T	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	1	573	+			20					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.126G>A	CCDS9604.1																																																																																				0.597	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		A	24108199	G	A	24108199	2	1	97	1	0	0	0	0	0	0	0	1	4490	1103	39	2		2	DHRS2	14	24108199	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		24108199	83241341	35	6665											
C15orf42	90381	broad.mit.edu	37	chr15	90168464	90168464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagagcagggggcaaacCtacatctgccaggcctgtac	11	5	13	12	0	1	1	0	0	1	1	1	1	1	1	3	4	5	4	3	4	4	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr15:90168464C>T	ENST00000268138.7	+	20	5028	c.4923C>T	c.(4921-4923)acC>acT	p.T1641T	TICRR_ENST00000560985.1_Silent_p.T1640T|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1641					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGGGCAAACCTACATCTGCC	0.612																																						uc002boe.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(4921-4923)acC>acT		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							43	45	45					15																	90168464		2200	4299	6499	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168464C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4923C>T	15.37:g.90168464C>T						C15orf42_uc021sug.1_Silent_p.T1640T	p.T1641T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		19	4923	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1641					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4923C>T	CCDS10352.2																																																																																				0.612	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		T	90168464	C	T	90168464	2	4	97	1	0	0	0	0	0	0	0	1	1796	668	24	3		3	C15orf42	15	90168464	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		90168464	12362928	36	6666											
MSLN	10232	broad.mit.edu	37	chr16	816982	816982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagaacatgaacgggtccGaatacttcgtgaagatccag	13	8	10	10	3	0	4	0	2	0	2	4	5	3	4	3	1	3	0	3	1	5	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:816982G>A	ENST00000382862.3	+	14	1590	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	MSLN_ENST00000545450.2_Missense_Mutation_p.E491K|MSLN_ENST00000563941.1_Missense_Mutation_p.E491K|MSLN_ENST00000566549.1_Missense_Mutation_p.E491K	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	499					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAACGGGTCCGAATACTTCGT	0.632																																						uc002cjw.2																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(1495-1497)Gaa>Aaa		Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.							72	74	74					16																	816982		2190	4292	6482	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816982G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1495G>A	16.37:g.816982G>A	ENSP00000372313:p.Glu499Lys					MSLN_uc002cju.1_Missense_Mutation_p.E491K|MSLN_uc002cjt.1_Missense_Mutation_p.E491K|MSLN_uc010brd.1_Missense_Mutation_p.E490K|MSLN_uc002cjy.1_Missense_Mutation_p.E156K	p.E499K	NM_013404	NP_037536	Q13421	MSLN_HUMAN			13	1606	+		Hepatocellular(780;0.00335)	499					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1495G>A	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	g	10.85	1.466923	0.26335	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17528	2.27;2.27	4.61	0.113	0.14631	.	0.753644	0.11944	N	0.514396	T	0.12178	0.0296	M	0.63843	1.955	0.09310	N	1	P;P;P;P	0.44478	0.803;0.836;0.803;0.803	B;B;B;B	0.29716	0.064;0.106;0.064;0.064	T	0.19418	-1.0306	10	0.49607	T	0.09	-4.9906	5.0831	0.14666	0.2448:0.1578:0.5974:0.0	.	490;499;491;491	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	K	499;491;491;499	ENSP00000442965:E491K;ENSP00000372313:E499K	ENSP00000372313:E499K	E	+	1	0	MSLN	756983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.464000	0.21988	0.202000	0.20498	-0.246000	0.11932	GAA		0.632	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			A	816982	G	A	816982	3	1	97	1	0	0	0	0	1	0	0	0	9881	1059	37	2	1545	2	MSLN	16	816982	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		816982	89537771	37	6667											
PPL	5493	broad.mit.edu	37	chr16	4945705	4945705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgagcgtccttcaCgtcttcgtgaaactagggga	8	10	11	12	3	2	2	1	2	1	0	5	3	4	3	2	2	3	1	2	2	2	3	rs142355114		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:4945705C>T	ENST00000345988.2	-	10	1074	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	PPL_ENST00000590782.2_Missense_Mutation_p.V327M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	329					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGTCCTTCACGTCTTCGTGA	0.577																																						uc002cyd.1																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(985-987)Gtg>Atg		Homo sapiens periplakin (PPL), mRNA.		C	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	106	88	94		985	-7.2	0	16	dbSNP_134	94	0,8600		0,0,4300	no	missense	PPL	NM_002705.4	21	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	329/1757	4945705	1,12993	2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945705C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.985G>A	16.37:g.4945705C>T	ENSP00000340510:p.Val329Met						p.V329M	NM_002705	NP_002696	O60437	PEPL_HUMAN			9	1075	-			329					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.985G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	4.899	0.167034	0.09339	2.28E-4	0.0	ENSG00000118898	ENST00000345988	D	0.92805	-3.11	4.12	-7.15	0.01521	.	0.297310	0.31721	N	0.007177	T	0.81024	0.4737	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.64867	-0.6306	10	0.35671	T	0.21	.	2.335	0.04245	0.2058:0.2119:0.1014:0.4809	.	329	O60437	PEPL_HUMAN	M	329	ENSP00000340510:V329M	ENSP00000340510:V329M	V	-	1	0	PPL	4885706	0.000000	0.05858	0.009000	0.14445	0.154000	0.21943	-0.182000	0.09726	-1.749000	0.01330	-0.448000	0.05591	GTG		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4945705	C	T	4945705	3	4	97	1	0	0	0	0	1	0	0	0	12334	536	19	1	4337	1	PPL	16	4945705	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	4128723	4945705	85409048	38	6668											
SRCAP	10847	broad.mit.edu	37	chr16	30721206	30721206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagaggatgaggaagaGgatgatgaggaaacgattga	16	5	15	5	1	0	6	0	4	0	2	0	11	0	10	2	4	1	0	2	4	3	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:30721206G>A	ENST00000262518.4	+	8	1276	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.E297E|SRCAP_ENST00000344771.4_Silent_p.E297E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	297	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATGAGGAAGAGGATGATGAGG	0.522																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(889-891)gaG>gaA		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							93	72	79					16																	30721206		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721206G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.891G>A	16.37:g.30721206G>A						SRCAP_uc021tgn.1_Silent_p.E297E|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.E154E|SNORA30_uc002dzh.1_5'Flank	p.E297E	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		7	1276	+			297			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.891G>A	CCDS10689.2																																																																																				0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30721206	G	A	30721206	2	1	97	1	0	0	0	0	0	0	0	1	15134	991	35	3		3	SRCAP	16	30721206	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08	25775501	30721206	59633547	39	6669											
ZNF99	7652	broad.mit.edu	37	chr19	22941588	22941588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattgctaaaagctttgcCgcattcttcatatttgtagg	11	15	7	8	1	2	0	1	0	1	0	2	0	2	0	1	1	3	4	1	1	5	8	rs200740712	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:22941588C>T	ENST00000596209.1	-	4	1213	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	ZNF99_ENST00000397104.3_Missense_Mutation_p.G284S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCGCATTCTTCA	0.368													C|||	3	0.000599042	0.0015	0	5008	,	,		19704	0		0.001	False		,,,				2504	0					uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1123-1125)Ggc>Agc		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.		C	SER/GLY	7,4057		0,7,2025	90	95	94		850	1.3	0	19		94	4,8398		0,4,4197	no	missense	ZNF99	NM_001080409.2	56	0,11,6222	TT,TC,CC		0.0476,0.1722,0.0882	probably-damaging	284/912	22941588	11,12455	2032	4201	6233	SO:0001583	missense	7652							g.chr19:22941588C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1123G>A	19.37:g.22941588C>T	ENSP00000472969:p.Gly375Ser						p.G375S	NM_001080409	NP_001073878					3	1278	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1123G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	14.73	2.623956	0.46840	0.001722	4.76E-4	ENSG00000213973	ENST00000397104	T	0.20463	2.07	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.31294	0.92	0.29481	N	0.85635	D	0.89917	1.0	D	0.77557	0.99	T	0.11767	-1.0574	9	0.87932	D	0	.	7.5823	0.27972	0.0:1.0:0.0:0.0	.	284	A8MXY4	ZNF99_HUMAN	S	284	ENSP00000380293:G284S	ENSP00000380293:G284S	G	-	1	0	ZNF99	22733428	0.005000	0.15991	0.032000	0.17829	0.027000	0.11550	0.952000	0.29149	0.675000	0.31264	0.395000	0.25975	GGC		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22941588	C	T	22941588	3	4	97	1	0	0	0	0	1	0	0	0	18201	652	23	2	2274	2	ZNF99	19	22941588	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		22941588	36187395	40	6670											
MAP4K1	11184	broad.mit.edu	37	chr19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaatgaaagagaggcGtctggccagtgtagccccaa	11	7	12	11	1	1	2	0	1	1	1	2	3	2	2	4	2	1	1	4	2	4	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39104548G>A	ENST00000591517.1	-	8	533	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.R169C|MAP4K1_ENST00000423454.2_De_novo_Start_InFrame|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R165C|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R169C	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627																																						uc002oix.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(505-507)Cgc>Tgc		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.							36	43	40					19																	39104548		2009	4176	6185	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39104548G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.505C>T	19.37:g.39104548G>A	ENSP00000465039:p.Arg169Cys					MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.2_5'UTR	p.R169C	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	613	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		169			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.505C>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315842	0.60524	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.65178	-0.14	4.6	3.52	0.40303	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.76205	0.3955	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.911	T	0.77469	-0.2576	10	0.87932	D	0	.	10.5799	0.45248	0.0:0.0:0.5194:0.4806	.	169;169	Q92918-2;Q92918	.;M4K1_HUMAN	C	169	ENSP00000380066:R169C	ENSP00000221409:R169C	R	-	1	0	MAP4K1	43796388	0.914000	0.31030	0.998000	0.56505	0.860000	0.49131	1.375000	0.34295	0.870000	0.35726	0.558000	0.71614	CGC		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		A	39104548	G	A	39104548	3	1	97	1	0	0	0	0	1	0	0	0	9259	1145	40	1	2158	1	MAP4K1	19	39104548	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	16162960	39104548	20024435	41	6671											
ACTN4	81	broad.mit.edu	37	chr19	39219650	39219650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagggtgaggccgagttCaaccgcatcatgagcctggt	8	9	14	10	2	2	2	2	2	0	0	2	3	2	2	3	3	3	3	3	3	1	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39219650C>T	ENST00000252699.2	+	20	2509	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ACTN4_ENST00000424234.2_Silent_p.F421F|ACTN4_ENST00000390009.3_Silent_p.F592F|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	811	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCGAGTTCAACCGCATCA	0.632																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2431-2433)ttC>ttT		Homo sapiens actinin, alpha 4 (ACTN4), mRNA.							109	85	93					19																	39219650		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219650C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2433C>T	19.37:g.39219650C>T						ACTN4_uc021uug.1_Silent_p.F592F	p.F811F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2552	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		811			EF-hand 2.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2433C>T	CCDS12518.1																																																																																				0.632	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			T	39219650	C	T	39219650	2	4	97	1	0	0	0	0	0	0	0	1	207	825	29	3		3	ACTN4	19	39219650	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	115102	39219650	19909333	42	6672											
NCCRP1	342897	broad.mit.edu	37	chr19	39691346	39691346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatggagcctggtgggctgCggcggacacgggtgaccgac	6	5	19	11	4	0	1	0	1	0	0	0	4	0	3	2	6	2	2	2	6	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39691346C>T	ENST00000339852.4	+	6	800	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	260	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGTGGGCTGCGGCGGACACG	0.622																																					Melanoma(107;1207 1556 14956 29427 52130)	uc002okq.1																			0		p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(778-780)Cgg>Tgg		Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.							183	174	177					19																	39691346		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691346C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.778C>T	19.37:g.39691346C>T	ENSP00000342137:p.Arg260Trp						p.R260W	NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN			5	797	+			260			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.778C>T	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625842	0.46840	.	.	ENSG00000188505	ENST00000339852	T	0.28666	1.6	4.96	3.92	0.45320	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.857164	0.10567	N	0.659550	T	0.28962	0.0719	L	0.44542	1.39	0.35539	D	0.802927	B	0.18461	0.028	B	0.17722	0.019	T	0.21280	-1.0250	10	0.56958	D	0.05	-17.9043	11.0185	0.47705	0.0:0.9076:0.0:0.0924	.	260	Q6ZVX7	NCRP1_HUMAN	W	260	ENSP00000342137:R260W	ENSP00000342137:R260W	R	+	1	2	NCCRP1	44383186	0.960000	0.32886	0.905000	0.35620	0.077000	0.17291	2.206000	0.42779	1.094000	0.41399	0.484000	0.47621	CGG		0.622	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		T	39691346	C	T	39691346	3	4	97	1	0	0	0	0	1	0	0	0	10213	759	27	1	800	1	NCCRP1	19	39691346	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	471696	39691346	19437637	43	6673											
FCGBP	8857	broad.mit.edu	37	chr19	40396029	40396029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtagtggggatctccCgacgcctggcaggtggtaga	6	9	18	8	2	1	1	0	0	1	1	2	3	1	2	2	6	0	3	2	6	2	2	rs587716286		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:40396029C>T	ENST00000221347.6	-	15	7375	c.7368G>A	c.(7366-7368)tcG>tcA	p.S2456S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2456	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGATCTCCCGACGCCTGGC	0.682													C|||	1	0.000199681	8e-04	0	5008	,	,		22097	0		0	False		,,,				2504	0					uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7366-7368)tcG>tcA		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							91	64	73					19																	40396029		2178	3880	6058	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40396029C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7368G>A	19.37:g.40396029C>T							p.S2456S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	7376	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2456			VWFD 6.		O95784	Silent	SNP	ENST00000221347.6	37	c.7368G>A	CCDS12546.1																																																																																				0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40396029	C	T	40396029	2	4	97	1	0	0	0	0	0	0	0	1	5778	639	23	2		2	FCGBP	19	40396029	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	704683	40396029	18732954	44	6674											
ZNF526	116115	broad.mit.edu	37	chr19	42730234	42730234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcgcctttgcccgcgcccCccgcctccccatcactggtc	3	8	8	22	4	1	0	1	0	0	0	4	0	2	0	8	1	1	0	8	1	0	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:42730234C>T	ENST00000301215.3	+	3	1904	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCGCGCCCCCCGCCTCCCC	0.652																																						uc002osz.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1678-1680)cCc>cTc		Homo sapiens zinc finger protein 526 (ZNF526), mRNA.							37	39	38					19																	42730234		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730234C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1679C>T	19.37:g.42730234C>T	ENSP00000301215:p.Pro560Leu					ZNF526_uc021uvc.1_Missense_Mutation_p.P560L	p.P560L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			2	1835	+		Prostate(69;0.0704)	560					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1679C>T	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938529	0.52972	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.10860	2.83	4.76	1.28	0.21552	.	0.543451	0.17367	N	0.176812	T	0.03959	0.0111	N	0.08118	0	0.36928	D	0.891755	B	0.18863	0.031	B	0.16289	0.015	T	0.39961	-0.9588	10	0.07030	T	0.85	-19.2193	6.4306	0.21794	0.4703:0.445:0.0:0.0847	.	560	Q8TF50	ZN526_HUMAN	L	416;560	ENSP00000301215:P560L	ENSP00000301215:P560L	P	+	2	0	ZNF526	47422074	0.987000	0.35691	0.799000	0.32177	0.921000	0.55340	1.203000	0.32284	0.283000	0.22279	0.561000	0.74099	CCC		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		T	42730234	C	T	42730234	3	4	97	1	0	0	0	0	1	0	0	0	17964	623	22	3	1681	3	ZNF526	19	42730234	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	2334205	42730234	16398749	45	6675											
NCOA6	23054	broad.mit.edu	37	chr20	33364240	33364240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccttctgtacttttaGcttgctggactcttgattgt	5	18	7	11	0	2	1	0	1	2	0	3	2	3	2	2	1	3	3	2	1	2	7			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:33364240G>T	ENST00000374796.2	-	5	2817	c.247C>A	c.(247-249)Cta>Ata	p.L83I	NCOA6_ENST00000359003.2_Missense_Mutation_p.L83I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	83	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTACTTTTAGCTTGCTGGAC	0.438																																						uc002xav.3																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(247-249)Cta>Ata		Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.							79	76	77					20																	33364240		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33364240G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.247C>A	20.37:g.33364240G>T	ENSP00000363929:p.Leu83Ile					NCOA6_uc002xaw.3_Missense_Mutation_p.L83I|NCOA6_uc021wcd.1_Missense_Mutation_p.L83I|NCOA6_uc021wce.1_Missense_Mutation_p.L83I|NCOA6_uc021wcf.1_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	p.L83I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			4	2818	-			83			CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.247C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920816	0.92249	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.40476	1.03;1.03	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000083	T	0.58764	0.2145	L	0.57536	1.79	0.52501	D	0.999959	D;P	0.67145	0.996;0.727	D;P	0.80764	0.994;0.67	T	0.59643	-0.7416	10	0.87932	D	0	-9.8487	11.3404	0.49529	0.1094:0.0:0.8906:0.0	.	83;83	F6M2K2;Q14686	.;NCOA6_HUMAN	I	83	ENSP00000363929:L83I;ENSP00000351894:L83I	ENSP00000351894:L83I	L	-	1	2	NCOA6	32827901	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.073000	0.50057	2.882000	0.98803	0.655000	0.94253	CTA		0.438	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		T	33364240	G	T	33364240	3	4	97	1	0	0	0	0	1	0	0	0	10233	962	34	5	5992	5	NCOA6	20	33364240	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		33364240	29661280	46	6676											
SPO11	23626	broad.mit.edu	37	chr20	55908298	55908298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgcaccaccagaaagatCaaaagtgattcaccaaaatc	18	7	5	11	0	2	3	2	1	0	2	3	3	2	3	3	0	1	1	3	0	5	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:55908298C>G	ENST00000371263.3	+	3	409	c.300C>G	c.(298-300)atC>atG	p.I100M	SPO11_ENST00000345868.4_Missense_Mutation_p.I62M|SPO11_ENST00000371260.4_Missense_Mutation_p.I62M	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	100					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.I100I(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases																														uc002xye.3																			1	Substitution - coding silent(1)	p.I100I(2)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(298-300)atC>atG	Editing and processing nucleases	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.							78	83	81					20																	55908298		2203	4299	6502	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55908298C>G	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.300C>G	20.37:g.55908298C>G	ENSP00000360310:p.Ile100Met					SPO11_uc002xyf.3_Missense_Mutation_p.I62M	p.I100M	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		2	393	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		100					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.300C>G	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523176	0.44866	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.18960	2.18;2.21;2.2;2.19	5.39	4.38	0.52667	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.371908	0.30930	N	0.008583	T	0.29556	0.0737	L	0.53249	1.67	0.32383	N	0.554346	P;P	0.51351	0.944;0.922	P;P	0.54629	0.757;0.653	T	0.17930	-1.0353	10	0.34782	T	0.22	-12.2568	8.5424	0.33402	0.2156:0.6477:0.1367:0.0	.	62;100	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	M	100;62;62;78	ENSP00000360310:I100M;ENSP00000316034:I62M;ENSP00000360307:I62M;ENSP00000413185:I78M	ENSP00000316034:I62M	I	+	3	3	SPO11	55341705	0.792000	0.28813	1.000000	0.80357	0.715000	0.41141	0.143000	0.16115	2.702000	0.92279	0.591000	0.81541	ATC		0.303	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		G	55908298	C	G	55908298	3	3	97	1	0	0	0	0	1	0	0	0	15076	816	29	5	310	5	SPO11	20	55908298	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	22544058	55908298	7117222	47	6677											
OSBPL2	9885	broad.mit.edu	37	chr20	60831247	60831247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgaaggatgaacGgagaggaagaattctttgat	12	10	14	5	1	1	5	0	3	1	2	1	8	1	7	0	4	2	2	0	4	4	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:60831247G>A	ENST00000313733.3	+	2	209	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G3R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	3					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGGATGAACGGAGAGGAAGA	0.483																																						uc002yck.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(7-9)Gga>Aga		Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.							118	93	102					20																	60831247		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60831247G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.7G>A	20.37:g.60831247G>A	ENSP00000316649:p.Gly3Arg					OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	p.G3R	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		1	209	+	Breast(26;7.76e-09)		3					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.7G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291788	0.59976	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.44083	0.95;0.93	5.41	3.28	0.37604	.	0.316549	0.35262	N	0.003330	T	0.27419	0.0673	N	0.22421	0.69	0.80722	D	1	P;P	0.45768	0.866;0.789	P;B	0.44772	0.46;0.271	T	0.10941	-1.0608	10	0.66056	D	0.02	-18.4542	1.9496	0.03364	0.2415:0.0:0.4487:0.3099	.	3;3	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	R	3	ENSP00000350755:G3R;ENSP00000316649:G3R	ENSP00000316649:G3R	G	+	1	0	OSBPL2	60264642	1.000000	0.71417	0.965000	0.40720	0.917000	0.54804	2.537000	0.45702	0.544000	0.28883	0.561000	0.74099	GGA		0.483	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		A	60831247	G	A	60831247	3	1	97	1	0	0	0	0	1	0	0	0	11278	1117	39	2	9	2	OSBPL2	20	60831247	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	4922949	60831247	2194273	48	6678											
PIWIL3	440822	broad.mit.edu	37	chr22	25150829	25150829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaatccagcagcttgaaaGttctggaaatggaaagaata	18	8	9	6	0	1	2	0	1	1	1	2	4	2	4	1	2	2	3	1	2	7	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:25150829G>A	ENST00000332271.5	-	7	1111	c.695C>T	c.(694-696)aCt>aTt	p.T232I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T123I|PIWIL3_ENST00000527701.1_Missense_Mutation_p.T123I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	232					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGCTTGAAAGTTCTGGAAAT	0.333																																						uc003abd.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(694-696)aCt>aTt		Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.							90	93	92					22																	25150829		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150829G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.695C>T	22.37:g.25150829G>A	ENSP00000330031:p.Thr232Ile					PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I	p.T232I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			6	1112	-			232						Missense_Mutation	SNP	ENST00000332271.5	37	c.695C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.362695	0.00212	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.08102	3.13;3.13;3.13	2.41	-1.07	0.09968	Argonaute/Dicer protein, PAZ (1);	0.577847	0.17198	N	0.183243	T	0.01061	0.0035	N	0.00068	-2.285	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.43572	-0.9383	10	0.02654	T	1	-1.3307	5.8902	0.18909	0.4815:0.0:0.5185:0.0	.	123;232;232	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	232;123;123	ENSP00000330031:T232I;ENSP00000431843:T123I;ENSP00000435718:T123I	ENSP00000330031:T232I	T	-	2	0	PIWIL3	23480829	0.999000	0.42202	0.057000	0.19452	0.002000	0.02628	1.143000	0.31553	-0.325000	0.08577	-0.391000	0.06502	ACT		0.333	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		A	25150829	G	A	25150829	3	1	97	1	0	0	0	0	1	0	0	0	11959	1029	36	3	2013	3	PIWIL3	22	25150829	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		25150829	26153737	49	6679											
PKDREJ	10343	broad.mit.edu	37	chr22	46655574	46655574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtagaactatcacatgccCccgaagatgctggtccattt	10	11	9	11	1	1	2	1	0	0	2	2	3	2	2	3	2	3	2	3	2	4	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:46655574C>T	ENST00000253255.5	-	1	3645	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1216					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCACATGCCCCCGAAGATGC	0.448																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3646-3648)Ggg>Agg		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							111	113	112					22																	46655574		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655574C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3646G>A	22.37:g.46655574C>T	ENSP00000253255:p.Gly1216Arg						p.G1216R	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	3646	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1216					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3646G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	4.044	0.005752	0.07866	.	.	ENSG00000130943	ENST00000253255	T	0.37411	1.2	5.04	1.52	0.23074	.	1.051940	0.07427	N	0.895102	T	0.21509	0.0518	N	0.22421	0.69	0.09310	N	1	B	0.23540	0.087	B	0.16722	0.016	T	0.29212	-1.0019	10	0.15499	T	0.54	-4.0818	5.8175	0.18500	0.1301:0.3852:0.41:0.0746	.	1216	Q9NTG1	PKDRE_HUMAN	R	1216	ENSP00000253255:G1216R	ENSP00000253255:G1216R	G	-	1	0	PKDREJ	45034238	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	0.897000	0.28390	0.189000	0.20188	0.561000	0.74099	GGG		0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		T	46655574	C	T	46655574	3	4	97	1	0	0	0	0	1	0	0	0	11970	623	22	3	3119	3	PKDREJ	22	46655574	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	21504745	46655574	4648992	50	6680											
P2RY8	286530	broad.mit.edu	37	chrX	1584486	1584486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggagaagaggctctcGcggcgcgtgtccagggtgtc	5	7	18	11	5	1	2	0	0	1	2	4	3	2	2	1	5	0	1	1	5	1	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:1584486G>A	ENST00000381297.4	-	2	1176	c.966C>T	c.(964-966)cgC>cgT	p.R322R	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGGCTCTCGCGGCGCGTGT	0.672			T	CRLF2	"B-ALL, Downs associated ALL"																																	uc022brv.1				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(964-966)cgC>cgT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							48	56	53					X																	1584486		2203	4295	6498	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584486G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.966C>T	X.37:g.1584486G>A						CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.R322R	p.R322R	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	966	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	322						Silent	SNP	ENST00000381297.4	37	c.966C>T	CCDS14115.1																																																																																				0.672	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		A	1584486	G	A	1584486	2	1	97	1	0	0	0	0	0	0	0	1	11355	1074	38	1		1	P2RY8	23	1584486	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		1584486	153686074	51	6681											
FAM47A	158724	broad.mit.edu	37	chrX	34149408	34149408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgggactctccagtctccgGaggctccgggcggagactgg	6	7	16	12	3	2	1	0	0	2	1	5	4	3	3	3	6	0	1	3	6	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:34149408G>T	ENST00000346193.3	-	1	1039	c.988C>A	c.(988-990)Ccg>Acg	p.P330T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	330										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGTCTCCGGAGGCTCCGGG	0.637																																						uc004ddg.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(988-990)Ccg>Acg		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							18	21	20					X																	34149408		2181	4283	6464	SO:0001583	missense	158724							g.chrX:34149408G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.988C>A	X.37:g.34149408G>T	ENSP00000345029:p.Pro330Thr						p.P330T	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			0	1040	-			330					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.988C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	10.61	1.397730	0.25205	.	.	ENSG00000185448	ENST00000346193	T	0.22539	1.95	0.226	0.226	0.15353	.	.	.	.	.	T	0.38878	0.1057	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11817	-1.0572	8	0.52906	T	0.07	.	.	.	.	.	330	Q5JRC9	FA47A_HUMAN	T	330	ENSP00000345029:P330T	ENSP00000345029:P330T	P	-	1	0	FAM47A	34059329	0.400000	0.25295	0.007000	0.13788	0.007000	0.05969	-0.099000	0.11007	0.283000	0.22279	0.287000	0.19450	CCG		0.637	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34149408	G	T	34149408	3	4	97	1	0	0	0	0	1	0	0	0	5569	1174	41	5	1391	5	FAM47A	23	34149408	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	32564922	34149408	121121152	52	6682											
L1CAM	3897	broad.mit.edu	37	chrX	153130626	153130626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcagcaggctggtgttcGactggcactccaggtgcaac	8	7	14	12	1	0	0	0	0	0	0	2	1	1	0	1	4	4	7	1	4	1	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:153130626G>A	ENST00000370060.1	-	22	2978	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	L1CAM_ENST00000370057.3_Missense_Mutation_p.S930L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S932L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S930L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S932L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S925L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S925L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	930	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTGTTCGACTGGCACTC	0.701																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2788-2790)tCg>tTg		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							27	25	26					X																	153130626		2197	4289	6486	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130626G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2789C>T	X.37:g.153130626G>A	ENSP00000359077:p.Ser930Leu					L1CAM_uc004fjc.3_Missense_Mutation_p.S930L|L1CAM_uc010nuo.3_Missense_Mutation_p.S925L	p.S930L	NM_000425	NP_000416	P32004	L1CAM_HUMAN			20	2897	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		930			Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2789C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780740	0.90195	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000114	T	0.73760	0.3628	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;P;D	0.70487	0.948;0.73;0.969	T	0.73043	-0.4107	10	0.32370	T	0.25	.	15.0765	0.72080	0.0:0.0:1.0:0.0	.	925;930;930	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	930;932;930;932;925;925;930	ENSP00000359077:S930L;ENSP00000438430:S932L;ENSP00000359074:S930L;ENSP00000439645:S932L;ENSP00000354712:S925L;ENSP00000359072:S925L;ENSP00000355380:S930L	ENSP00000355380:S930L	S	-	2	0	L1CAM	152783820	1.000000	0.71417	0.913000	0.36048	0.978000	0.69477	5.889000	0.69766	2.147000	0.66899	0.529000	0.55759	TCG		0.701	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153130626	G	A	153130626	3	1	97	1	0	0	0	0	1	0	0	0	8588	1059	37	2	1016	2	L1CAM	23	153130626	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	118981218	153130626	2139934	53	6683											
TNFRSF8	943	broad.mit.edu	37	chr1	12172031	12172031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgactactacctggaCgaggccggccgctgcacggc	7	4	14	16	5	0	0	0	0	0	0	0	4	0	1	4	4	4	2	4	4	2	2	rs536842664		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:12172031C>T	ENST00000263932.2	+	7	975	c.753C>T	c.(751-753)gaC>gaT	p.D251D	TNFRSF8_ENST00000417814.2_Silent_p.D140D	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	251					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	ACTACCTGGACGAGGCCGGCC	0.602													c|||	1	0.000199681	0	0	5008	,	,		15813	0		0	False		,,,				2504	0.001					uc001atq.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(751-753)gaC>gaT		Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.							51	49	49					1																	12172031		2203	4300	6503	SO:0001819	synonymous_variant	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12172031C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.753C>T	1.37:g.12172031C>T						TNFRSF8_uc010obc.2_Silent_p.D140D	p.D251D	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	975	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	251					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	c.753C>T	CCDS144.1																																																																																				0.602	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12172031	C	T	12172031	2	4	98	1	0	0	0	0	0	0	0	1	16296	535	19	1		1	TNFRSF8	1	12172031	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		12172031	237078590	1	6684											
NT5C1A	84618	broad.mit.edu	37	chr1	40131873	40131873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgaaacaaggctcgggaGgacacagcgatggtgactgc	12	5	15	9	3	0	1	0	1	0	0	1	5	0	3	0	4	4	1	0	4	2	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:40131873G>A	ENST00000235628.1	-	2	170	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	57					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGCTCGGGAGGACACAGCGA	0.582																																						uc001cdq.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(169-171)tcC>tcT		Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.							94	76	82					1																	40131873		2203	4300	6503	SO:0001819	synonymous_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131873G>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.171C>T	1.37:g.40131873G>A							p.S57S	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	171	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	57					Q3SYB9|Q5TG98|Q9BWT8	Silent	SNP	ENST00000235628.1	37	c.171C>T	CCDS440.1																																																																																				0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		A	40131873	G	A	40131873	2	1	98	1	0	0	0	0	0	0	0	1	10685	987	35	3		3	NT5C1A	1	40131873	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	27959842	40131873	209118748	2	6685											
MSH4	4438	broad.mit.edu	37	chr1	76272802	76272802	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattatactatcccagttTgcagacaacacaacatatgc	16	10	4	11	0	0	1	0	0	0	1	1	1	1	1	1	0	5	2	1	0	7	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:76272802T>C	ENST00000263187.3	+	3	668	c.564T>C	c.(562-564)ttT>ttC	p.F188F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	188					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TATCCCAGTTTGCAGACAACA	0.373								Mismatch excision repair (MMR)																														uc001dhd.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(562-564)ttT>ttC	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.							107	116	113					1																	76272802		2203	4300	6503	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76272802T>C	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.564T>C	1.37:g.76272802T>C							p.F188F	NM_002440	NP_002431	O15457	MSH4_HUMAN			2	679	+			188					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.564T>C	CCDS670.1																																																																																				0.373	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		C	76272802	T	C	76272802	2	2	98	1	0	0	0	0	0	0	0	1	9872	1809	63	4		4	MSH4	1	76272802	Silent	SNP	T	TCGA-06-6388-01A-12D-1845-08	36140929	76272802	172977819	3	6686											
ELTD1	64123	broad.mit.edu	37	chr1	79392712	79392712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggtttcaataagaaGttgtcagatgatgaaagcaa	15	13	10	3	0	2	5	2	3	0	2	2	5	2	5	0	1	1	3	0	1	5	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:79392712G>T	ENST00000370742.3	-	8	1005	c.942C>A	c.(940-942)aaC>aaA	p.N314K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	314					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAATAAGAAGTTGTCAGATG	0.318																																						uc001diq.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(940-942)aaC>aaA		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							80	75	76					1																	79392712		1812	4079	5891	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79392712G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.942C>A	1.37:g.79392712G>T	ENSP00000359778:p.Asn314Lys						p.N314K	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	7	1098	-			314					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.942C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	6.537	0.467259	0.12402	.	.	ENSG00000162618	ENST00000370742	T	0.09911	2.93	6.02	-0.0395	0.13875	Domain of unknown function DUF3497 (1);	0.312145	0.42548	N	0.000697	T	0.01592	0.0051	N	0.25647	0.755	0.09310	N	0.999994	B	0.10296	0.003	B	0.15484	0.013	T	0.46359	-0.9197	9	.	.	.	.	3.4041	0.07335	0.2296:0.1161:0.5357:0.1187	.	314	Q9HBW9	ELTD1_HUMAN	K	314	ENSP00000359778:N314K	.	N	-	3	2	ELTD1	79165300	0.981000	0.34729	0.677000	0.29947	0.390000	0.30446	1.168000	0.31859	0.079000	0.16929	0.544000	0.68410	AAC		0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		T	79392712	G	T	79392712	3	4	98	1	0	0	0	0	1	0	0	0	5084	1020	36	5	1162	5	ELTD1	1	79392712	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	3119910	79392712	169857909	4	6687											
CCDC76	54482	broad.mit.edu	37	chr1	100602642	100602643	+	Splice_Site	INS	-	-	T																															aagagagaaaccaaaacctgINStaagtgtttgatcagtaaaa																										TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:100602642_100602643insT	ENST00000370141.2	+	3	267		c.e3+1		TRMT13_ENST00000370139.1_Splice_Site|TRMT13_ENST00000370143.1_Splice_Site	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ACCAAAACCTGTAAGTGTTTGA	0.337																																						uc001dsv.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21						c.e3+1		Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.																																				SO:0001630	splice_region_variant	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100602642_100602643insT	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.261+1->T	1.37:g.100602643_100602643dupT						CCDC76_uc010ouf.2_Splice_Site|CCDC76_uc009wea.3_Splice_Site_p.P87_splice	p.P87_splice	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	3	280	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	87					Q5VVL0|Q9NW65	Splice_Site	INS	ENST00000370141.2	37	c.261_splice	CCDS765.1																																																																																				0.337	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083	Intron	T	100602643	-	T	100602642	8	5	98	1	0	1	1	0	0	0	1	0	2850	1391	48	0	272	0	CCDC76	1	100602642	Splice_Site	INS	-	TCGA-06-6388-01A-12D-1845-08	21209930	100602642	148647979	5	6688											
KCND3	3752	broad.mit.edu	37	chr1	112524445	112524445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggccctgggagtggcGggaaaacttgaagatcctga	10	6	15	10	2	0	3	0	2	0	1	1	5	1	5	3	4	1	1	3	4	3	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:112524445G>A	ENST00000315987.2	-	2	1383	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	KCND3_ENST00000369697.1_Missense_Mutation_p.R302C|KCND3_ENST00000302127.4_Missense_Mutation_p.R302C	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGGAGTGGCGGGAAAACTTG	0.582																																						uc001ebu.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.							74	79	78					1																	112524445		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524445G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.904C>T	1.37:g.112524445G>A	ENSP00000319591:p.Arg302Cys					KCND3_uc001ebv.1_Missense_Mutation_p.R302C	p.R302C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	1384	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.904C>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771691	0.69992	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98792	-5.14;-5.14;-5.14	5.49	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97649	1.0153	10	0.87932	D	0	.	15.2585	0.73603	0.0:0.0:0.8583:0.1417	.	302;302	Q14D71;Q9UK17	.;KCND3_HUMAN	C	302	ENSP00000358711:R302C;ENSP00000319591:R302C;ENSP00000306923:R302C	ENSP00000306923:R302C	R	-	1	0	KCND3	112325968	1.000000	0.71417	0.907000	0.35723	0.996000	0.88848	7.990000	0.88215	1.286000	0.44565	0.655000	0.94253	CGC		0.582	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		A	112524445	G	A	112524445	3	1	98	1	0	0	0	0	1	0	0	0	8020	1116	39	2	1091	2	KCND3	1	112524445	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	11921803	112524445	136726176	6	6689											
FLG	2312	broad.mit.edu	37	chr1	152283656	152283656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcagcttcatggtgacGtgaccctgagtgcctggagc	8	8	15	10	1	1	4	1	3	0	1	1	5	1	5	2	3	3	2	2	3	0	1	rs144184134	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152283656G>A	ENST00000368799.1	-	3	3741	c.3706C>T	c.(3706-3708)Cgt>Tgt	p.R1236C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1236	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACGTGACCCTGAG	0.562									Ichthyosis				G|||	5	0.000998403	8e-04	0	5008	,	,		19690	0		0	False		,,,				2504	0.0041					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3706-3708)Cgt>Tgt		Homo sapiens filaggrin (FLG), mRNA.		G	CYS/ARG	9,4397	15.5+/-35.6	0,9,2194	307	294	298		3706	-0.9	0	1	dbSNP_134	298	0,8600		0,0,4300	yes	missense	FLG	NM_002016.1	180	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	1236/4062	152283656	9,12997	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283656G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3706C>T	1.37:g.152283656G>A	ENSP00000357789:p.Arg1236Cys					AK056431_uc001ezv.3_5'Flank	p.R1236C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3742	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1236			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3706C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.110	-0.182817	0.06340	0.002043	0.0	ENSG00000143631	ENST00000368799	T	0.02446	4.29	1.64	-0.916	0.10489	.	.	.	.	.	T	0.01029	0.0034	M	0.66939	2.045	0.09310	N	1	D	0.58620	0.983	B	0.36186	0.219	T	0.49437	-0.8940	9	0.56958	D	0.05	.	2.991	0.05983	0.0:0.2995:0.3988:0.3017	.	1236	P20930	FILA_HUMAN	C	1236	ENSP00000357789:R1236C	ENSP00000357789:R1236C	R	-	1	0	FLG	150550280	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.397000	0.20883	0.714000	0.32081	0.186000	0.17326	CGT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283656	G	A	152283656	3	1	98	1	0	0	0	0	1	0	0	0	5922	1145	40	1	8483	1	FLG	1	152283656	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	39759211	152283656	96966965	7	6690											
FLG2	388698	broad.mit.edu	37	chr1	152328935	152328935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagccacatacatgttgttCgaacccagaggactgactca	12	9	9	11	1	1	3	1	2	0	1	2	5	1	4	2	1	3	2	2	1	2	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152328935C>T	ENST00000388718.5	-	3	1399	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	443	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATGTTGTTCGAACCCAGAG	0.448																																						uc001ezw.4																			0		p.F442L(1)|p.E443V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1327-1329)Gaa>Aaa		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							168	160	163					1																	152328935		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328935C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1327G>A	1.37:g.152328935C>T	ENSP00000373370:p.Glu443Lys					AK056431_uc001ezv.3_Intron	p.E443K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1400	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		443			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1327G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580373	0.03854	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	2.88	-4.05	0.03998	.	.	.	.	.	T	0.01387	0.0045	N	0.04508	-0.205	0.09310	N	1	B	0.23058	0.079	B	0.06405	0.002	T	0.42832	-0.9428	9	0.06757	T	0.87	.	4.202	0.10471	0.0:0.2999:0.3321:0.368	.	443	Q5D862	FILA2_HUMAN	K	443	ENSP00000373370:E443K	ENSP00000373370:E443K	E	-	1	0	FLG2	150595559	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.008000	0.03663	-0.922000	0.03789	0.561000	0.74099	GAA		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152328935	C	T	152328935	3	4	98	1	0	0	0	0	1	0	0	0	5923	893	31	2	5852	2	FLG2	1	152328935	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	45279	152328935	96921686	8	6691											
SMCP	4184	broad.mit.edu	37	chr1	152857174	152857174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgagcccaactcaccGcaaactcaggacaagggctg	12	5	11	13	1	3	1	2	1	1	0	3	3	3	2	2	2	3	2	2	2	3	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537																																						uc021ozk.1																			1	Substitution - coding silent(1)	p.P92P(2)|p.P92L(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(274-276)ccG>ccA		Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.							116	108	110					1																	152857174		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857174G>A	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"mitochondrial capsule selenoprotein"	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.276G>A	1.37:g.152857174G>A						SMCP_uc001fat.3_Silent_p.P92P	p.P92P	NM_030663	NP_109588	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	276	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92					Q96A42	Silent	SNP	ENST00000368765.3	37	c.276G>A	CCDS1029.1																																																																																				0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		A	152857174	G	A	152857174	2	1	98	1	0	0	0	0	0	0	0	1	14789	1074	38	1		1	SMCP	1	152857174	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	528239	152857174	96393447	9	6692											
USH2A	7399	broad.mit.edu	37	chr1	215799138	215799138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttacaggtgggtgtcTgtgaatgtggtgcgttcctt	5	16	13	7	1	1	1	0	1	1	0	3	1	3	1	2	3	2	1	2	3	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:215799138T>C	ENST00000307340.3	-	72	15980	c.15594A>G	c.(15592-15594)acA>acG	p.T5198T	USH2A_ENST00000366943.2_Silent_p.T5222T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5198					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGGGTGTCTGTGAATGTGG	0.463										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15592-15594)acA>acG		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							362	287	313					1																	215799138		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215799138T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15594A>G	1.37:g.215799138T>C		HNSCC(13;0.011)					p.T5198T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	71	15981	-			5198					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.15594A>G	CCDS31025.1																																																																																				0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215799138	T	C	215799138	2	2	98	1	0	0	0	0	0	0	0	1	17033	1567	55	4		4	USH2A	1	215799138	Silent	SNP	T	TCGA-06-6388-01A-12D-1845-08	62941964	215799138	33451483	10	6693											
RYR2	6262	broad.mit.edu	37	chr1	237806746	237806746	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgccaacaatagccaaAggtaaggccaacttcaattt	16	8	7	10	0	1	1	1	0	0	1	1	1	1	1	3	2	4	1	3	2	7	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:237806746A>T	ENST00000366574.2	+	48	7658	c.7341A>T	c.(7339-7341)aaA>aaT	p.K2447N	RYR2_ENST00000360064.6_Splice_Site_p.K2445N|RYR2_ENST00000542537.1_Splice_Site_p.K2431N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2447	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATAGCCAAAGGTAAGGCCA	0.438																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e48+1		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							138	131	134					1																	237806746		1925	4114	6039	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806746A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7342+1A>T	1.37:g.237806746A>T							p.D2448_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7462	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2448			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7342_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249801	0.80024	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96619	-4.07;-4.07;-4.07	5.27	4.14	0.48551	.	0.000000	0.64402	D	0.000003	D	0.97536	0.9193	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96794	0.9584	10	0.52906	T	0.07	.	8.6013	0.33747	0.8505:0.0:0.1495:0.0	.	2447	Q92736	RYR2_HUMAN	N	2447;2445;2431	ENSP00000355533:K2447N;ENSP00000353174:K2445N;ENSP00000443798:K2431N	ENSP00000353174:K2445N	K	+	3	2	RYR2	235873369	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.235000	0.65348	0.948000	0.37687	0.460000	0.39030	AAA		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	T	237806746	A	T	237806746	5	4	98	1	0	0	0	0	0	0	1	0	13769	86	3	5	7531	5	RYR2	1	237806746	Splice_Site	SNP	A	TCGA-06-6388-01A-12D-1845-08	22007608	237806746	11443875	11	6694											
RAD51AP2	729475	broad.mit.edu	37	chr2	17692095	17692095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattttcttttaagtttccGtaacacatttgtttcagata	12	19	4	6	1	2	1	1	0	1	1	3	1	3	1	1	0	1	3	1	0	4	9			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:17692095G>A	ENST00000399080.2	-	3	3479	c.3456C>T	c.(3454-3456)taC>taT	p.Y1152Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1152	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAAGTTTCCGTAACACATTT	0.338																																						uc002rcl.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3454-3456)taC>taT		Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.							83	74	77					2																	17692095		1807	4070	5877	SO:0001819	synonymous_variant	729475							g.chr2:17692095G>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3456C>T	2.37:g.17692095G>A						RAD51AP2_uc010exn.1_Silent_p.Y1143Y	p.Y1152Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			2	3480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1152			Interaction with RAD51.			Silent	SNP	ENST00000399080.2	37	c.3456C>T	CCDS42656.1																																																																																				0.338	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		A	17692095	G	A	17692095	2	1	98	1	0	0	0	0	0	0	0	1	12987	1140	40	1		1	RAD51AP2	2	17692095	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08		17692095	225507278	12	6695											
TMEM17	200728	broad.mit.edu	37	chr2	62728426	62728426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcttggaggtggaaaCgaactgccaactgattaacc	14	8	10	9	1	1	1	0	1	1	0	1	4	1	3	2	3	5	0	2	3	5	2	rs561991904		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:62728426C>T	ENST00000335390.5	-	4	726	c.515G>A	c.(514-516)cGt>cAt	p.R172H		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	172					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GAGGTGGAAACGAACTGCCAA	0.423													C|||	1	0.000199681	0	0	5008	,	,		20736	0		0	False		,,,				2504	0.001					uc002sbt.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(514-516)cGt>cAt		Homo sapiens transmembrane protein 17 (TMEM17), mRNA.							144	137	139					2																	62728426		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62728426C>T		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.515G>A	2.37:g.62728426C>T	ENSP00000335094:p.Arg172His					TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	p.R172H	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		3	855	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		172					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.515G>A	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590260	0.46214	.	.	ENSG00000186889	ENST00000335390	T	0.49139	0.79	5.6	2.81	0.32909	.	0.353194	0.33057	N	0.005327	T	0.30947	0.0781	N	0.19112	0.55	0.31902	N	0.61588	B	0.11235	0.004	B	0.04013	0.001	T	0.28138	-1.0053	10	0.41790	T	0.15	-2.2764	10.8395	0.46706	0.0:0.7347:0.0:0.2653	.	172	Q86X19	TMM17_HUMAN	H	172	ENSP00000335094:R172H	ENSP00000335094:R172H	R	-	2	0	TMEM17	62581930	0.428000	0.25522	1.000000	0.80357	0.998000	0.95712	0.334000	0.19787	0.735000	0.32537	0.650000	0.86243	CGT		0.423	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		T	62728426	C	T	62728426	3	4	98	1	0	0	0	0	1	0	0	0	16082	536	19	1	85	1	TMEM17	2	62728426	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	45036331	62728426	180470947	13	6696											
TGFA	7039	broad.mit.edu	37	chr2	70683568	70683568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggctggcagccaccaCggccaggaggtccgcatgct	6	7	13	15	2	1	0	0	0	1	0	2	1	2	1	4	5	2	4	4	5	0	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:70683568C>T	ENST00000295400.6	-	4	515	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	TGFA_ENST00000418333.2_Missense_Mutation_p.V89M|AC017084.1_ENST00000401177.2_RNA|TGFA_ENST00000445399.1_Missense_Mutation_p.V89M|TGFA_ENST00000450929.1_Missense_Mutation_p.V95M|TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000444975.1_Missense_Mutation_p.V96M	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	90					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)	p.V90M(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GCAGCCACCACGGCCAGGAGG	0.577																																						uc002sgs.4																			1	Substitution - Missense(1)	p.V90M(2)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(268-270)Gtg>Atg		Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.							63	49	54					2																	70683568		2203	4298	6501	SO:0001583	missense	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70683568C>T		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.268G>A	2.37:g.70683568C>T	ENSP00000295400:p.Val90Met					TGFA_uc010fdq.3_Missense_Mutation_p.V96M|TGFA_uc010fdr.3_Missense_Mutation_p.V95M|TGFA_uc002sgt.4_Missense_Mutation_p.V89M|TGFA_uc002sgu.3_Missense_Mutation_p.V89M|TGFA_uc002sgv.3_Missense_Mutation_p.V90M|TGFA_uc002sgw.3_Missense_Mutation_p.V89M	p.V90M	NM_003236	NP_003227	P01135	TGFA_HUMAN			3	516	-			90					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	c.268G>A	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934367	0.92458	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.76328	2.33	0.50039	D	0.999846	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.998;0.984;0.984;0.999	T	0.16719	-1.0393	10	0.87932	D	0	.	16.9667	0.86287	0.0:1.0:0.0:0.0	.	95;96;89;90;89;89;90	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	M	90;89;89;95;96;89	ENSP00000295400:V90M;ENSP00000387493:V89M;ENSP00000404099:V89M;ENSP00000414127:V95M;ENSP00000404131:V96M;ENSP00000377787:V89M	ENSP00000295400:V90M	V	-	1	0	TGFA	70537076	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.249000	0.78278	2.608000	0.88229	0.561000	0.74099	GTG		0.577	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			T	70683568	C	T	70683568	3	4	98	1	0	0	0	0	1	0	0	0	15812	536	19	1	226	1	TGFA	2	70683568	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	7955142	70683568	172515805	14	6697											
RGPD3	653489	broad.mit.edu	37	chr2	107040566	107040566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatcctgttgttgactcaTcaaagtggaaaagatttttt	12	16	8	5	0	2	3	2	1	0	2	3	4	3	4	1	1	0	2	1	1	4	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:107040566T>A	ENST00000409886.3	-	20	3944	c.3857A>T	c.(3856-3858)gAt>gTt	p.D1286V	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1286V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1286					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTTGACTCATCAAAGTGGAA	0.408																																						uc010ywi.1																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3856-3858)gAt>gTt		Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.							167	124	137					2																	107040566		660	1515	2175	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040566T>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3857A>T	2.37:g.107040566T>A	ENSP00000386588:p.Asp1286Val						p.D1286V	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			19	3914	-			1286					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3857A>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	5.864	0.343502	0.11069	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.39229	1.09;1.09	2.35	2.35	0.29111	.	.	.	.	.	T	0.20495	0.0493	N	0.08118	0	0.50813	D	0.99989	P	0.37176	0.586	B	0.34873	0.191	T	0.04454	-1.0950	9	0.59425	D	0.04	-17.4495	7.1563	0.25639	0.0:0.8506:0.0:0.1494	.	1286	A6NKT7	RGPD3_HUMAN	V	1286	ENSP00000386588:D1286V;ENSP00000303659:D1286V	ENSP00000303659:D1286V	D	-	2	0	RGPD3	106406998	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	5.868000	0.69605	0.328000	0.23435	-1.128000	0.01989	GAT		0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		A	107040566	T	A	107040566	3	1	98	1	0	0	0	0	1	0	0	0	13287	1435	50	5	1435	5	RGPD3	2	107040566	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	36356998	107040566	136158807	15	6698											
MME	4311	broad.mit.edu	37	chr3	154832945	154832945	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actagaagtcgttttgaaagGttagtagagattgtgtctgt	11	15	12	3	1	1	3	0	1	1	2	2	4	1	3	0	1	0	3	0	1	5	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:154832945G>A	ENST00000460393.1	+	4	478		c.e4+1		MME_ENST00000462745.1_Splice_Site|MME_ENST00000493237.1_Splice_Site|MME_ENST00000492661.1_Splice_Site|MME_ENST00000360490.2_Splice_Site	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase						angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GTTTTGAAAGGTTAGTAGAGA	0.378																																						uc010hvr.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.e4+1		Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	Candoxatril(DB00616)						93	89	90					3																	154832945		2203	4300	6503	SO:0001630	splice_region_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154832945G>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.358+1G>A	3.37:g.154832945G>A						MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice	p.D120_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	569	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	120					A8K6U6|D3DNJ9|Q3MIX4	Splice_Site	SNP	ENST00000460393.1	37	c.358_splice	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206804	0.79127	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000462837	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6107	0.95606	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MME	156315639	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.731000	0.98807	2.648000	0.89879	0.655000	0.94253	.		0.378	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	Intron	A	154832945	G	A	154832945	5	1	98	1	0	0	0	0	0	0	1	0	9645	1275	44	3	369	3	MME	3	154832945	Splice_Site	SNP	G	TCGA-06-6388-01A-12D-1845-08		154832945	43189485	16	6699											
PLD1	5337	broad.mit.edu	37	chr3	171330189	171330189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccatttcactgtcacgctttCccagcatgctgcggtcattt	6	14	7	14	2	3	0	3	0	0	0	4	0	4	0	2	1	3	3	2	1	0	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:171330189C>G	ENST00000351298.4	-	25	2888	c.2762G>C	c.(2761-2763)gGa>gCa	p.G921A	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.G921A|PLD1_ENST00000356327.5_Missense_Mutation_p.G883A	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	921	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCACGCTTTCCCAGCATGCT	0.507																																					NSCLC(149;2174 3517 34058)	uc003fhs.3																			0		p.G921*(2)|p.L920L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2761-2763)gGa>gCa		Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	Choline(DB00122)						127	108	115					3																	171330189		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171330189C>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2762G>C	3.37:g.171330189C>G	ENSP00000342793:p.Gly921Ala					PLD1_uc003fht.3_Missense_Mutation_p.G883A|PLD1_uc003fhu.4_Missense_Mutation_p.G215A	p.G921A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3109	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		921			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2762G>C	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.923721|4.923721	0.92319|0.92319	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.23754	.|1.89;1.89;1.89	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66886|0.66886	0.2835|0.2835	H|H	0.96142|0.96142	3.775|3.775	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.994;1.0;1.0	.|D;D;D	.|0.97110	.|0.965;1.0;1.0	T|T	0.77643|0.77643	-0.2511|-0.2511	5|10	.|0.62326	.|D	.|0.03	-23.2722|-23.2722	19.5547|19.5547	0.95338|0.95338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|921;906;921	.|Q13393-4;Q59EA4;Q13393	.|.;.;PLD1_HUMAN	Q|A	184|883;921;921	.|ENSP00000348681:G883A;ENSP00000342793:G921A;ENSP00000340326:G921A	.|ENSP00000340326:G921A	E|G	-|-	1|2	0|0	PLD1|PLD1	172812883|172812883	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.969000|0.969000	0.65631|0.65631	7.792000|7.792000	0.85828|0.85828	2.606000|2.606000	0.88127|0.88127	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.507	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		G	171330189	C	G	171330189	3	3	98	1	0	0	0	0	1	0	0	0	12045	855	30	5	474	5	PLD1	3	171330189	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	16497244	171330189	26692241	17	6700											
LPHN3	23284	broad.mit.edu	37	chr4	62452954	62452954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttggcagctttcagccGtgccccaattccaatggctg	6	12	9	14	1	1	0	1	0	0	0	2	0	2	0	5	2	3	3	5	2	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:62452954G>A	ENST00000514591.1	+	4	394	c.65G>A	c.(64-66)cGt>cAt	p.R22H	LPHN3_ENST00000506700.1_Missense_Mutation_p.R22H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R22H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R22H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R90H|LPHN3_ENST00000512091.2_Missense_Mutation_p.R22H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R22H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R90H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R22H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R90H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R90H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R22H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R90H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R90H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R90H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	22					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTCAGCCGTGCCCCAATT	0.453																																						uc010ihh.3																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(64-66)cGt>cAt		Homo sapiens latrophilin 3 (LPHN3), mRNA.							37	39	38					4																	62452954		1909	4114	6023	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62452954G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.65G>A	4.37:g.62452954G>A	ENSP00000422533:p.Arg22His					LPHN3_uc003hcq.4_Missense_Mutation_p.R22H|LPHN3_uc010ihg.1_Missense_Mutation_p.R90H	p.R22H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			1	238	+			22					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.65G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256124	0.80246	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72282	-0.56;-0.54;-0.57;-0.57;-0.55;-0.54;-0.58;-0.58;-0.57;-0.56;-0.56;-0.61;-0.64;-0.64;-0.6	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	L	0.29908	0.895	0.54753	D	0.999987	D;D;D	0.71674	0.995;0.998;0.997	P;D;P	0.72075	0.719;0.976;0.855	T	0.79834	-0.1636	10	0.87932	D	0	.	19.0468	0.93022	0.0:0.0:1.0:0.0	.	22;90;22	E9PE04;E7EN28;Q9HAR2-2	.;.;.	H	22;22;90;90;22;22;22;22;22;90;90;90;22;22;22;90;90;22	ENSP00000423388:R22H;ENSP00000422533:R22H;ENSP00000423787:R90H;ENSP00000425033:R90H;ENSP00000424120:R22H;ENSP00000439831:R22H;ENSP00000421476:R90H;ENSP00000424030:R90H;ENSP00000421372:R90H;ENSP00000425201:R22H;ENSP00000423434:R22H;ENSP00000421627:R22H;ENSP00000420931:R90H;ENSP00000425884:R90H;ENSP00000424258:R22H	ENSP00000280009:R22H	R	+	2	0	LPHN3	62135549	1.000000	0.71417	0.993000	0.49108	0.330000	0.28571	9.608000	0.98331	2.741000	0.93983	0.650000	0.86243	CGT		0.453	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62452954	G	A	62452954	3	1	98	1	0	0	0	0	1	0	0	0	8917	1145	40	1	71	1	LPHN3	4	62452954	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		62452954	128701322	18	6701											
CXCL1	2919	broad.mit.edu	37	chr4	74735288	74735288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctggccggcgcgcagcagGtgggtaccggcgccctgggg	3	4	20	14	6	0	0	0	0	0	0	0	0	0	0	3	7	2	4	3	7	1	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:74735288G>T	ENST00000395761.3	+	1	167		c.e1+1		CXCL1_ENST00000509101.1_Splice_Site	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)						actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCGCAGCAGGTGGGTACCGG	0.726																																						uc003hhh.2																			0				lung(2)	2						c.e1+1		Homo sapiens chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) (CXCL1), transcript variant 1, mRNA.							9	13	11					4																	74735288		2059	4173	6232	SO:0001630	splice_region_variant	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735288G>T	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"Endogenous ligands"	4602	protein-coding gene	gene with protein product		155730	"GRO1 oncogene (melanoma growth stimulating activity, alpha)", "fibroblast secretory protein"	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.100+1G>T	4.37:g.74735288G>T							p.G34_splice	NM_001511	NP_001502	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	179	+	Breast(15;0.00102)		34					Q9UCR7	Splice_Site	SNP	ENST00000395761.3	37	c.100_splice	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750339	0.30955	.	.	ENSG00000163739	ENST00000395761	.	.	.	3.82	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3137	0.26489	0.1244:0.0:0.8756:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXCL1	74954152	1.000000	0.71417	0.383000	0.26132	0.066000	0.16364	2.287000	0.43505	0.940000	0.37473	0.467000	0.42956	.		0.726	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1		Intron	T	74735288	G	T	74735288	5	4	98	1	0	0	0	0	0	0	1	0	4077	1275	44	5	103	5	CXCL1	4	74735288	Splice_Site	SNP	G	TCGA-06-6388-01A-12D-1845-08	12282334	74735288	116418988	19	6702											
PDHA2	5161	broad.mit.edu	37	chr4	96761394	96761394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtaactcctcaaatgaCgctacatttgaaattaagaa	15	11	5	10	2	1	3	1	2	0	1	3	3	3	3	2	0	2	2	2	0	6	4	rs143281239		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:96761394C>T	ENST00000295266.4	+	1	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	31					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.D31E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCTCAAATGACGCTACATTTG	0.502																																						uc003htr.4																			1	Substitution - Missense(1)	p.D31E(2)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(91-93)gaC>gaT		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)	C		1,4405	2.1+/-5.4	0,1,2202	58	58	58		93	-9.3	0	4	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	PDHA2	NM_005390.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		31/389	96761394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761394C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.93C>T	4.37:g.96761394C>T							p.D31D	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	156	+		Hepatocellular(203;0.114)	31					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.93C>T	CCDS3644.1																																																																																				0.502	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			T	96761394	C	T	96761394	2	4	98	1	0	0	0	0	0	0	0	1	11665	535	19	1		1	PDHA2	4	96761394	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	22026106	96761394	94392882	20	6703											
PRMT10	90826	broad.mit.edu	37	chr4	148591889	148591889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtttctgttacaactaggGacactctatagaatgatttt	12	15	7	7	0	2	2	0	1	2	1	2	3	2	3	0	1	2	2	0	1	6	7	rs201783758		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:148591889G>A	ENST00000322396.6	-	5	991	c.749C>T	c.(748-750)tCc>tTc	p.S250F	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S137F	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		250	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACAACTAGGGACACTCTATA	0.328																																						uc003ilc.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(748-750)tCc>tTc		Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.							97	100	99					4																	148591889		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148591889G>A																												ENST00000322396.6:c.749C>T	4.37:g.148591889G>A	ENSP00000314396:p.Ser250Phe					PRMT10_uc003ild.3_Missense_Mutation_p.S137F	p.S250F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			4	891	-			250					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.749C>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629348	0.87560	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.22539	1.95;1.95	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59392	-0.7463	10	0.87932	D	0	-6.288	19.8241	0.96610	0.0:0.0:1.0:0.0	.	250	Q6P2P2	ANM10_HUMAN	F	250;137	ENSP00000314396:S250F;ENSP00000439508:S137F	ENSP00000314396:S250F	S	-	2	0	PRMT10	148811339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.205000	0.95048	2.758000	0.94735	0.655000	0.94253	TCC		0.328	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			A	148591889	G	A	148591889	3	1	98	1	0	0	0	0	1	0	0	0	12536	1174	41	3	1820	3	PRMT10	4	148591889	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	51830495	148591889	42562387	21	6704											
PIK3R1	5295	broad.mit.edu	37	chr5	67592121	67592121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggaagcgagatggcacttTtcttgtccgggagagcagta	10	9	15	7	2	1	2	0	0	1	2	2	5	2	3	1	3	2	3	1	3	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:67592121T>C	ENST00000521381.1	+	15	2553	c.1937T>C	c.(1936-1938)tTt>tCt	p.F646S	PIK3R1_ENST00000396611.1_Missense_Mutation_p.F654S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.F646S|PIK3R1_ENST00000523872.1_Missense_Mutation_p.F283S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.F646S|PIK3R1_ENST00000320694.8_Missense_Mutation_p.F346S|PIK3R1_ENST00000336483.5_Missense_Mutation_p.F376S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	646	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GATGGCACTTTTCTTGTCCGG	0.453			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1936-1938)tTt>tCt		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						172	165	167					5																	67592121		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592121T>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1937T>C	5.37:g.67592121T>C	ENSP00000428056:p.Phe646Ser	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.3_Missense_Mutation_p.F376S|PIK3R1_uc003jve.3_Missense_Mutation_p.F325S|PIK3R1_uc021xzn.1_Missense_Mutation_p.F283S	p.F646S	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2517	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	646			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1937T>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950495	0.92660	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.15	5.15	0.70609	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	H	0.99454	4.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98897	1.0775	10	0.87932	D	0	-18.8473	15.1338	0.72545	0.0:0.0:0.0:1.0	.	376;346;646	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	S	646;646;654;646;346;376;283	ENSP00000428056:F646S;ENSP00000429277:F646S;ENSP00000379855:F654S;ENSP00000274335:F646S;ENSP00000323512:F346S;ENSP00000338554:F376S;ENSP00000430098:F283S	ENSP00000274335:F646S	F	+	2	0	PIK3R1	67627877	1.000000	0.71417	0.881000	0.34555	0.992000	0.81027	7.868000	0.87116	2.171000	0.68590	0.528000	0.53228	TTT		0.453	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67592121	T	C	67592121	3	2	98	1	0	0	0	0	1	0	0	0	11918	1841	64	4	2121	4	PIK3R1	5	67592121	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08		67592121	113323139	22	6705											
LNPEP	4012	broad.mit.edu	37	chr5	96320900	96320900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cataagggatgagcaatacaCcgctttatcaaatatgccta	15	10	7	9	1	1	1	1	1	0	0	1	2	1	2	2	1	3	2	2	1	7	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:96320900C>T	ENST00000231368.5	+	3	1669	c.977C>T	c.(976-978)aCc>aTc	p.T326I	LNPEP_ENST00000395770.3_Missense_Mutation_p.T312I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	326					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGCAATACACCGCTTTATCA	0.378																																						uc003kmv.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(976-978)aCc>aTc		Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.							129	125	126					5																	96320900		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96320900C>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.977C>T	5.37:g.96320900C>T	ENSP00000231368:p.Thr326Ile					LNPEP_uc003kmw.1_Missense_Mutation_p.T312I	p.T326I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	1491	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	326					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.977C>T	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	3.546	-0.092761	0.07053	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04603	3.59;3.59	5.34	5.34	0.76211	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.424075	0.26553	N	0.023725	T	0.04861	0.0131	L	0.37466	1.105	0.25957	N	0.98268	B	0.06786	0.001	B	0.09377	0.004	T	0.36939	-0.9727	10	0.17369	T	0.5	.	12.386	0.55333	0.0:0.9216:0.0:0.0784	.	326	Q9UIQ6	LCAP_HUMAN	I	326;312	ENSP00000231368:T326I;ENSP00000379117:T312I	ENSP00000231368:T326I	T	+	2	0	LNPEP	96346656	0.956000	0.32656	0.993000	0.49108	0.972000	0.66771	3.156000	0.50708	2.667000	0.90743	0.643000	0.83706	ACC		0.378	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		T	96320900	C	T	96320900	3	4	98	1	0	0	0	0	1	0	0	0	8864	507	18	3	987	3	LNPEP	5	96320900	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	28728779	96320900	84594360	23	6706											
FAT2	2196	broad.mit.edu	37	chr5	150925630	150925630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcataggtaacttcagagggGctcatagcagagacaaggag	14	7	13	7	0	3	2	3	0	0	2	3	4	3	3	0	4	2	3	0	4	4	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:150925630G>A	ENST00000261800.5	-	9	5070	c.5058C>T	c.(5056-5058)agC>agT	p.S1686S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1686	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGAGGGGCTCATAGCAG	0.443																																						uc003lue.4																			0		p.M1685V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(5056-5058)agC>agT		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							65	72	70					5																	150925630		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925630G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5058C>T	5.37:g.150925630G>A							p.S1686S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	5071	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1686			Cadherin 15.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5058C>T	CCDS4317.1																																																																																				0.443	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150925630	G	A	150925630	2	1	98	1	0	0	0	0	0	0	0	1	5690	1194	42	3		3	FAT2	5	150925630	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	54604730	150925630	29989630	24	6707											
ENPP4	22875	broad.mit.edu	37	chr6	46107513	46107513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagagcatgttaaaaatGtttttatcacaaaaacattt	16	15	6	4	0	1	1	1	0	0	1	1	1	1	1	0	1	2	4	0	1	7	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:46107513G>A	ENST00000321037.4	+	2	423	c.193G>A	c.(193-195)Gtt>Att	p.V65I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	65					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGTTAAAAATGTTTTTATCAC	0.363																																						uc003oxy.3																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(193-195)Gtt>Att		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.							64	66	65					6																	46107513		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107513G>A	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.193G>A	6.37:g.46107513G>A	ENSP00000318066:p.Val65Ile						p.V65I	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			1	452	+			65					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.193G>A	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679225	0.47886	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73258	-0.73	5.96	5.96	0.96718	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.108203	0.64402	D	0.000008	T	0.57784	0.2077	L	0.47190	1.495	0.43593	D	0.995944	P	0.36330	0.548	B	0.37304	0.246	T	0.56768	-0.7924	10	0.24483	T	0.36	-23.8661	20.4192	0.99033	0.0:0.0:1.0:0.0	.	65	Q9Y6X5	ENPP4_HUMAN	I	65	ENSP00000318066:V65I	ENSP00000318066:V65I	V	+	1	0	ENPP4	46215472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.184000	0.50926	2.831000	0.97527	0.650000	0.86243	GTT		0.363	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			A	46107513	G	A	46107513	3	1	98	1	0	0	0	0	1	0	0	0	5132	1377	48	3	195	3	ENPP4	6	46107513	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		46107513	125007554	25	6708											
KIF25	3834	broad.mit.edu	37	chr6	168443353	168443353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaccgtggccatgccccGtaccggaacagcaggctcac	9	4	12	16	3	1	0	1	0	0	0	1	2	1	1	5	3	5	4	5	3	2	1	rs147561163		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:168443353G>A	ENST00000443060.2	+	9	1333	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.P314P			Q9UIL4	KIF25_HUMAN	kinesin family member 25	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652																																						uc003qwk.1																			1	Substitution - coding silent(1)	p.P314P(2)	cervix(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(940-942)ccG>ccA		Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	112	107	109		,942	-8.2	0	6	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	,314/385	168443353	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443353G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.942G>A	6.37:g.168443353G>A						KIF25_uc003qwl.1_Intron	p.P314P	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1204	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	314					O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.942G>A	CCDS5305.1																																																																																				0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			A	168443353	G	A	168443353	2	1	98	1	0	0	0	0	0	0	0	1	8293	1132	40	1		1	KIF25	6	168443353	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	122335840	168443353	2671714	26	6709											
SDK1	221935	broad.mit.edu	37	chr7	4153898	4153898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcggggccggacgcGggagtcaggtgaggggaagg	6	4	25	6	4	1	1	1	1	0	0	1	4	1	4	1	10	1	0	1	10	1	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:4153898G>A	ENST00000404826.2	+	25	3954	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R1272Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1272	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCGGACGCGGGAGTCAGGT	0.652																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3814-3816)cGg>cAg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							18	18	18					7																	4153898		2197	4297	6494	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153898G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3815G>A	7.37:g.4153898G>A	ENSP00000385899:p.Arg1272Gln					SDK1_uc010kso.3_Missense_Mutation_p.R548Q	p.R1272Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3954	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1272					Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3815G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855984	0.71834	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.52983	0.64;0.64	5.38	5.38	0.77491	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.086696	0.46758	D	0.000265	T	0.61211	0.2329	L	0.39326	1.205	0.22728	N	0.998805	D;D	0.76494	0.999;0.988	D;B	0.65443	0.935;0.421	T	0.57341	-0.7828	10	0.72032	D	0.01	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	1272;1272	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	1272	ENSP00000385899:R1272Q;ENSP00000374182:R1272Q	ENSP00000374182:R1272Q	R	+	2	0	SDK1	4120424	1.000000	0.71417	0.508000	0.27688	0.448000	0.32197	6.207000	0.72159	2.507000	0.84556	0.655000	0.94253	CGG		0.652	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4153898	G	A	4153898	3	1	98	1	0	0	0	0	1	0	0	0	13968	1116	39	2	3913	2	SDK1	7	4153898	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		4153898	154984765	27	6710											
HGF	3082	broad.mit.edu	37	chr7	81386513	81386513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttcttacctgtgttcGtgtggtatcatggaactcca	7	16	9	9	1	2	0	1	0	1	0	4	1	3	1	2	2	3	3	2	2	4	5	rs367553438		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:81386513G>A	ENST00000222390.5	-	4	700	c.474C>T	c.(472-474)caC>caT	p.H158H	HGF_ENST00000423064.2_Silent_p.H158H|HGF_ENST00000354224.6_Silent_p.H158H|HGF_ENST00000457544.2_Silent_p.H158H|HGF_ENST00000453411.1_Silent_p.H158H|HGF_ENST00000453018.1_Silent_p.H55H|HGF_ENST00000444829.2_Silent_p.H158H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	158	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCTGTGTTCGTGTGGTATCA	0.393																																						uc003uhl.3																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(472-474)caC>caT		Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	172	157	162		474,474,474,474,474	-6.2	0.9	7		162	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HGF	NM_000601.4,NM_001010931.1,NM_001010932.1,NM_001010933.1,NM_001010934.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	158/729,158/291,158/724,158/286,158/211	81386513	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81386513G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.474C>T	7.37:g.81386513G>A						HGF_uc003uhm.3_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.3_Silent_p.H158H|HGF_uc022agw.1_Silent_p.H158H	p.H158H	NM_000601	NP_000592	P14210	HGF_HUMAN			3	639	-			158			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.474C>T	CCDS5597.1																																																																																				0.393	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		A	81386513	G	A	81386513	2	1	98	1	0	0	0	0	0	0	0	1	7085	1136	40	1		1	HGF	7	81386513	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	77232615	81386513	77752150	28	6711											
SAMD12	401474	broad.mit.edu	37	chr8	119452171	119452171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgggtccatagagcCaccggtttagatagcttcac	8	11	10	12	1	1	2	1	0	0	2	3	2	3	2	4	2	3	3	4	2	3	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr8:119452171C>G	ENST00000314727.4	-	3	358	c.222G>C	c.(220-222)gtG>gtC	p.V74V	SAMD12_ENST00000409003.4_Silent_p.V74V	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	74										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCCATAGAGCCACCGGTTTAG	0.428																																						uc003yom.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(220-222)gtG>gtC		Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.							139	122	128					8																	119452171		2203	4300	6503	SO:0001819	synonymous_variant	401474							g.chr8:119452171C>G	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.222G>C	8.37:g.119452171C>G						SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_Non-coding_Transcript	p.V74V	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		2	351	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		74					Q0P502	Silent	SNP	ENST00000314727.4	37	c.222G>C	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.685|9.685	1.150421|1.150421	0.21371|0.21371	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000453675|ENST00000526765	.|.	.|.	.|.	5.68|5.68	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	T|T	0.60676|0.60676	0.2287|0.2287	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58787|0.58787	-0.7575|-0.7575	4|4	.|.	.|.	.|.	-11.8271|-11.8271	9.9162|9.9162	0.41436|0.41436	0.1372:0.7922:0.0:0.0705|0.1372:0.7922:0.0:0.0705	.|.	.|.	.|.	.|.	R|S	71|89	.|.	.|.	G|W	-|-	1|2	0|0	SAMD12|SAMD12	119521352|119521352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.967000|0.967000	0.29344|0.29344	1.369000|1.369000	0.46134|0.46134	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.428	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		G	119452171	C	G	119452171	2	3	98	1	0	0	0	0	0	0	0	1	13817	581	21	5		5	SAMD12	8	119452171	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		119452171	26911851	29	6712											
C10orf79	80217	broad.mit.edu	37	chr10	105928529	105928529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgacctttcacagccatCgaattccaacattcttcttt	9	14	4	14	2	3	0	1	0	2	0	6	2	4	0	3	0	2	1	3	0	2	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:105928529C>T	ENST00000278064.2	-	21	2782	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	WDR96_ENST00000357060.3_Silent_p.S888S|WDR96_ENST00000428666.1_Silent_p.S889S																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACAGCCATCGAATTCCAAC	0.373																																						uc001kxw.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2662-2664)tcG>tcA		Homo sapiens WD repeat domain 96 (WDR96), mRNA.							153	143	146					10																	105928529		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105928529C>T																												ENST00000278064.2:c.2457G>A	10.37:g.105928529C>T						WDR96_uc009xxq.3_Silent_p.S196S|WDR96_uc001kxx.4_Silent_p.S889S	p.S888S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN			20	2780	-			888						Silent	SNP	ENST00000278064.2	37	c.2664G>A		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.412046	0.01145	.	.	ENSG00000197748	ENST00000434629	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53563	-0.8421	4	.	.	.	.	5.9935	0.19480	0.1109:0.0854:0.3988:0.4048	.	.	.	.	Q	249	.	.	R	-	2	0	WDR96	105918519	0.003000	0.15002	0.029000	0.17559	0.057000	0.15508	-2.276000	0.01161	-3.142000	0.00233	-2.629000	0.00154	CGA		0.373	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			T	105928529	C	T	105928529	2	4	98	1	0	0	0	0	0	0	0	1	1618	871	31	2		2	C10orf79	10	105928529	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		105928529	29606218	30	6713											
ADRB1	153	broad.mit.edu	37	chr10	115804336	115804336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggccagcatcgagaccCtgtgtgtcattgccctggac	7	9	12	13	2	1	2	1	1	0	1	2	4	1	3	3	2	2	1	3	2	0	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:115804336C>T	ENST00000369295.2	+	1	531	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	149					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CATCGAGACCCTGTGTGTCAT	0.682																																						uc001lba.3																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(445-447)Ctg>Ttg		Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						100	110	107					10																	115804336		2203	4300	6503	SO:0001819	synonymous_variant	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804336C>T	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.445C>T	10.37:g.115804336C>T							p.L149L	NM_000684	NP_000675	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	0	531	+		Colorectal(252;0.172)|Breast(234;0.188)	149					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	c.445C>T	CCDS7586.1																																																																																				0.682	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			T	115804336	C	T	115804336	2	4	98	1	0	0	0	0	0	0	0	1	340	680	24	3		3	ADRB1	10	115804336	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	9875807	115804336	19730411	31	6714											
CD6	923	broad.mit.edu	37	chr11	60780934	60780934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagagaacaaggaatctcGggagctaatgctcctcatcc	14	8	9	10	1	2	1	1	0	1	1	5	4	4	3	2	2	3	2	2	2	6	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:60780934G>A	ENST00000313421.7	+	7	1376	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Missense_Mutation_p.R397Q|CD6_ENST00000344028.5_Missense_Mutation_p.R397Q|CD6_ENST00000352009.5_Missense_Mutation_p.R397Q|CD6_ENST00000452451.2_Missense_Mutation_p.R397Q	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	397					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AAGGAATCTCGGGAGCTAATG	0.443																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1189-1191)cGg>cAg		Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.							193	195	195					11																	60780934		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60780934G>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1190G>A	11.37:g.60780934G>A	ENSP00000323280:p.Arg397Gln					CD6_uc009yni.3_Missense_Mutation_p.R296Q|CD6_uc009ynj.3_Missense_Mutation_p.R274Q|CD6_uc001nqp.3_Missense_Mutation_p.R397Q|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.R397Q|CD6_uc001nqt.3_Missense_Mutation_p.R397Q	p.R397Q	NM_006725	NP_006716	P30203	CD6_HUMAN			6	1415	+			397					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1190G>A	CCDS7999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.248|7.248	0.602669|0.602669	0.13939|0.13939	.|.	.|.	ENSG00000013725|ENSG00000013725	ENST00000538611|ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	.|T;T;T;T;T;T;T	.|0.01422	.|5.03;5.01;4.91;4.94;5.13;4.92;5.02	5.33|5.33	-1.79|-1.79	0.07932|0.07932	.|.	.|1.186040	.|0.06402	.|N	.|0.718920	T|T	0.01029|0.01029	0.0034|0.0034	L|L	0.39397|0.39397	1.21|1.21	0.09310|0.09310	N|N	1|1	.|P;B;B;B;B	.|0.45283	.|0.855;0.341;0.179;0.277;0.231	.|B;B;B;B;B	.|0.30782	.|0.12;0.024;0.024;0.026;0.013	T|T	0.50171|0.50171	-0.8859|-0.8859	5|10	.|0.13108	.|T	.|0.6	.|.	5.1186|5.1186	0.14849|0.14849	0.4143:0.0:0.4519:0.1337|0.4143:0.0:0.4519:0.1337	.|.	.|296;397;397;397;397	.|E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.|.;.;.;CD6_HUMAN;.	R|Q	140|397;397;397;274;296;397;397	.|ENSP00000344108:R397Q;ENSP00000345566:R397Q;ENSP00000323280:R397Q;ENSP00000440055:R274Q;ENSP00000410638:R296Q;ENSP00000390676:R397Q;ENSP00000340628:R397Q	.|ENSP00000323280:R397Q	G|R	+|+	1|2	0|0	CD6|CD6	60537510|60537510	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-1.650000|-1.650000	0.01991|0.01991	-0.634000|-0.634000	0.05538|0.05538	-0.857000|-0.857000	0.03018|0.03018	GGG|CGG		0.443	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		A	60780934	G	A	60780934	3	1	98	1	0	0	0	0	1	0	0	0	3028	1116	39	2	1216	2	CD6	11	60780934	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		60780934	74225582	32	6715											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695622	64695622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatgtggatcaaaagtttGtcctgatggtgaagtgggga	11	12	15	3	0	1	2	1	2	0	0	2	5	2	4	1	4	0	1	1	4	4	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:64695622G>T	ENST00000164133.2	+	5	1205	c.583G>T	c.(583-585)Gtc>Ttc	p.V195F		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	195					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCAAAAGTTTGTCCTGATGGT	0.582																																						uc001obz.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(583-585)Gtc>Ttc		Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.							107	103	104					11																	64695622		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695622G>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.583G>T	11.37:g.64695622G>T	ENSP00000164133:p.Val195Phe					PPP2R5B_uc001oby.3_Missense_Mutation_p.V195F	p.V195F	NM_006244	NP_006235	Q15173	2A5B_HUMAN			3	876	+			195					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.583G>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613186	0.87359	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.56	3.56	0.40772	Armadillo-type fold (1);	0.146450	0.44285	D	0.000479	T	0.80793	0.4691	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84336	0.0524	8	.	.	.	-7.1572	13.5415	0.61676	0.0:0.0:1.0:0.0	.	195	Q15173	2A5B_HUMAN	F	195;222;109;195	.	.	V	+	1	0	PPP2R5B	64452198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.137000	0.94496	2.322000	0.78497	0.549000	0.68633	GTC		0.582	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		T	64695622	G	T	64695622	3	4	98	1	0	0	0	0	1	0	0	0	12393	1377	48	5	597	5	PPP2R5B	11	64695622	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	3914688	64695622	70310894	33	6716											
SNX32	254122	broad.mit.edu	37	chr11	65617743	65617744	+	Splice_Site	INS	-	-	T																															tgaagcaggagctggaagcgINStgagtgccccctcctttccc																								rs375818666		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:65617743_65617744insT	ENST00000308342.6	+	4	799		c.e4+1			NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32						intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGCTGGAAGCGTGAGTGCCCCC	0.554																																						uc001ofr.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.e4+1		Homo sapiens sorting nexin 32 (SNX32), mRNA.																																				SO:0001630	splice_region_variant	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65617743_65617744insT	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.374+1->T	11.37:g.65617744_65617744dupT						SNX32_uc010rop.1_3'UTR	p.A125_splice	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	4	501	+			125			PX.		Q8IW53|Q96NG4	Splice_Site	INS	ENST00000308342.6	37	c.374_splice	CCDS8113.2																																																																																				0.554	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760	Intron	T	65617744	-	T	65617743	8	5	98	1	0	1	1	0	0	0	1	0	14902	1159	40	0	389	0	SNX32	11	65617743	Splice_Site	INS	-	TCGA-06-6388-01A-12D-1845-08	922121	65617743	69388773	34	6717											
CABP4	57010	broad.mit.edu	37	chr11	67222962	67222962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtcagaagccccctgCgggggttgtgactcccaaga	7	7	14	13	2	1	3	1	1	0	2	2	3	2	3	4	3	2	1	4	3	2	1	rs371921931		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:67222962C>T	ENST00000325656.5	+	1	145	c.68C>T	c.(67-69)gCg>gTg	p.A23V	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron|GPR152_ENST00000312457.2_5'Flank	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	23					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCCCCCTGCGGGGGTTGTG	0.632																																						uc001olo.3																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(67-69)gCg>gTg		Homo sapiens calcium binding protein 4 (CABP4), mRNA.		C	VAL/ALA	0,4354		0,0,2177	10	13	12		68	-4.7	0	11		12	1,8501		0,1,4250	no	missense	CABP4	NM_145200.3	64	0,1,6427	TT,TC,CC		0.0118,0.0,0.0078	benign	23/276	67222962	1,12855	2177	4251	6428	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67222962C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.68C>T	11.37:g.67222962C>T	ENSP00000324960:p.Ala23Val					GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	p.A23V	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		0	145	+			23					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.68C>T	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.587989	0.13812	0.0	1.18E-4	ENSG00000175544	ENST00000325656	T	0.66995	-0.24	4.62	-4.66	0.03329	.	1.907910	0.02844	N	0.128297	T	0.32793	0.0841	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.14252	T	0.57	-0.7757	3.4879	0.07626	0.4265:0.2544:0.0:0.3191	.	23	P57796	CABP4_HUMAN	V	23	ENSP00000324960:A23V	ENSP00000324960:A23V	A	+	2	0	CABP4	66979538	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.976000	0.03786	-1.092000	0.03062	0.436000	0.28706	GCG		0.632	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			T	67222962	C	T	67222962	3	4	98	1	0	0	0	0	1	0	0	0	2533	768	27	1	70	1	CABP4	11	67222962	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	1605219	67222962	67783554	35	6718											
AMOTL1	154810	broad.mit.edu	37	chr11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccattgccttgcagccGcccatgccaacttccgttcc	5	11	6	19	2	0	0	0	0	0	0	3	0	3	0	8	0	5	2	8	0	1	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:94554698G>A	ENST00000433060.2	+	4	1265	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	375					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602																																						uc001pfb.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1123-1125)cGc>cAc		Homo sapiens angiomotin like 1 (AMOTL1), mRNA.							27	33	31					11																	94554698		2144	4244	6388	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554698G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1124G>A	11.37:g.94554698G>A	ENSP00000387739:p.Arg375His					AMOTL1_uc001pfc.3_Missense_Mutation_p.R325H	p.R375H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1294	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	375					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1124G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913356	0.52439	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13089	2.62;2.62;2.62	5.68	5.68	0.88126	.	0.076575	0.56097	D	0.000032	T	0.33789	0.0875	M	0.66939	2.045	0.51482	D	0.999926	D;D	0.76494	0.999;0.996	D;P	0.65323	0.934;0.67	T	0.02813	-1.1107	10	0.13853	T	0.58	-25.1937	19.7951	0.96477	0.0:0.0:1.0:0.0	.	325;375	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	H	325;381;375;375	ENSP00000320968:R325H;ENSP00000323474:R375H;ENSP00000387739:R375H	ENSP00000320968:R325H	R	+	2	0	AMOTL1	94194346	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	5.190000	0.65104	2.698000	0.92095	0.561000	0.74099	CGC		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		A	94554698	G	A	94554698	3	1	98	1	0	0	0	0	1	0	0	0	583	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	27331736	94554698	40451818	36	6719											
IL26	55801	broad.mit.edu	37	chr12	68619233	68619233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgacttaccataaactgCttttttgttttcttttttaa	8	23	3	7	0	2	1	0	1	2	0	2	1	2	1	1	0	3	2	1	0	4	11			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr12:68619233C>G	ENST00000229134.4	-	2	283	c.219G>C	c.(217-219)aaG>aaC	p.K73N	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	73					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CCATAAACTGCTTTTTTGTTT	0.274																																						uc001stx.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(217-219)aaG>aaC		Homo sapiens interleukin 26 (IL26), mRNA.							46	49	48					12																	68619233		2192	4297	6489	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619233C>G	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.219G>C	12.37:g.68619233C>G	ENSP00000229134:p.Lys73Asn						p.K73N	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	254	-			73						Missense_Mutation	SNP	ENST00000229134.4	37	c.219G>C	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	C	5.762	0.324968	0.10900	.	.	ENSG00000111536	ENST00000229134	T	0.76839	-1.05	5.08	-0.475	0.12104	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.510935	0.19110	N	0.122472	T	0.54255	0.1847	N	0.19112	0.55	0.25392	N	0.98852	B	0.10296	0.003	B	0.10450	0.005	T	0.27640	-1.0068	9	.	.	.	-18.257	3.0652	0.06212	0.1284:0.4677:0.2506:0.1533	.	73	Q9NPH9	IL26_HUMAN	N	73	ENSP00000229134:K73N	.	K	-	3	2	IL26	66905500	0.968000	0.33430	0.443000	0.26883	0.641000	0.38312	0.780000	0.26760	0.003000	0.14656	0.462000	0.41574	AAG		0.274	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		G	68619233	C	G	68619233	3	3	98	1	0	0	0	0	1	0	0	0	7679	796	28	5	312	5	IL26	12	68619233	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		68619233	65232662	37	6720											
RCBTB1	55213	broad.mit.edu	37	chr13	50140816	50140816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttaatcttctttccaCataagccttctagctttttg	7	19	5	10	0	3	0	0	0	3	0	4	0	4	0	2	1	2	2	2	1	3	9			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:50140816C>T	ENST00000378302.2	-	4	475	c.215G>A	c.(214-216)tGt>tAt	p.C72Y	RCBTB1_ENST00000546015.1_Missense_Mutation_p.C72Y|RCBTB1_ENST00000258646.3_Missense_Mutation_p.C72Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	72					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CTTCTTTCCACATAAGCCTTC	0.408																																						uc001vde.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(214-216)tGt>tAt		Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.							151	139	143					13																	50140816		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50140816C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.215G>A	13.37:g.50140816C>T	ENSP00000367552:p.Cys72Tyr						p.C72Y	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	3	476	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	72					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.215G>A	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294497	0.40594	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.84589	-1.87;-1.87;-1.87	5.61	4.77	0.60923	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.165139	0.64402	D	0.000002	D	0.90170	0.6928	M	0.69358	2.11	0.33739	D	0.619167	D	0.53151	0.958	P	0.56398	0.797	D	0.93175	0.6569	10	0.59425	D	0.04	-10.5236	18.6055	0.91264	0.0:0.7775:0.2224:0.0	.	72	Q8NDN9	RCBT1_HUMAN	Y	72	ENSP00000258646:C72Y;ENSP00000367552:C72Y;ENSP00000443293:C72Y	ENSP00000258646:C72Y	C	-	2	0	RCBTB1	49038817	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.744000	0.55112	0.849000	0.35215	-1.273000	0.01405	TGT		0.408	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		T	50140816	C	T	50140816	3	4	98	1	0	0	0	0	1	0	0	0	13171	478	17	3	1420	3	RCBTB1	13	50140816	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		50140816	65029062	38	6721											
ABCC4	10257	broad.mit.edu	37	chr13	95715080	95715080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggctgagatgagggaacTttttccagctccggttcttc	8	12	12	9	1	1	2	0	2	1	1	4	4	3	3	2	3	2	3	2	3	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:95715080T>C	ENST00000376887.4	-	26	3358	c.3244A>G	c.(3244-3246)Agt>Ggt	p.S1082G	ABCC4_ENST00000412704.1_Missense_Mutation_p.S1035G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1082	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ATGAGGGAACTTTTTCCAGCT	0.398																																						uc001vmd.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3244-3246)Agt>Ggt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	Cefazolin(DB01327)						73	74	74					13																	95715080		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95715080T>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3244A>G	13.37:g.95715080T>C	ENSP00000366084:p.Ser1082Gly					ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.S1035G	p.S1082G	NM_005845	NP_005836	O15439	MRP4_HUMAN			25	3363	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1082			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3244A>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751734	0.69533	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.97831	-4.56;-4.56	6.14	6.14	0.99180	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99074	4.42	0.80722	D	1	B;P	0.38048	0.38;0.616	B;B	0.26517	0.042;0.07	D	0.98194	1.0464	10	0.87932	D	0	.	16.7723	0.85541	0.0:0.0:0.0:1.0	.	1035;1082	O15439-2;O15439	.;MRP4_HUMAN	G	1035;1082	ENSP00000388657:S1035G;ENSP00000366084:S1082G	ENSP00000366084:S1082G	S	-	1	0	ABCC4	94513081	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.690000	0.84178	2.360000	0.80028	0.519000	0.50382	AGT		0.398	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		C	95715080	T	C	95715080	3	2	98	1	0	0	0	0	1	0	0	0	55	1609	56	4	757	4	ABCC4	13	95715080	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	45574264	95715080	19454798	39	6722											
RYR3	6263	broad.mit.edu	37	chr15	33873724	33873724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggaatgttggcccttGtcttaaattgcattgaccgc	8	13	10	10	1	2	1	1	1	1	0	2	2	2	2	2	2	1	2	2	2	3	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:33873724G>T	ENST00000389232.4	+	14	1523	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	RYR3_ENST00000415757.3_Missense_Mutation_p.V485F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	485					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTGGCCCTTGTCTTAAATTG	0.438																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1453-1455)Gtc>Ttc		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							133	132	132					15																	33873724		1927	4146	6073	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33873724G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1453G>T	15.37:g.33873724G>T	ENSP00000373884:p.Val485Phe					RYR3_uc010bar.3_Missense_Mutation_p.V485F	p.V485F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	13	1523	+		all_lung(180;7.18e-09)	485					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1453G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725196	0.68959	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97752	-4.52;-4.52	5.51	5.51	0.81932	Intracellular calcium-release channel (1);	0.180388	0.37530	N	0.002058	D	0.98330	0.9446	M	0.83953	2.67	0.47949	D	0.999555	D;D	0.56746	0.977;0.968	P;P	0.53450	0.656;0.726	D	0.99285	1.0897	10	0.87932	D	0	.	19.4206	0.94720	0.0:0.0:1.0:0.0	.	485;485	Q15413-2;Q15413	.;RYR3_HUMAN	F	485	ENSP00000373884:V485F;ENSP00000399610:V485F	ENSP00000354735:V485F	V	+	1	0	RYR3	31661016	1.000000	0.71417	0.852000	0.33557	0.992000	0.81027	3.924000	0.56476	2.582000	0.87167	0.563000	0.77884	GTC		0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33873724	G	T	33873724	3	4	98	1	0	0	0	0	1	0	0	0	13770	1377	48	5	1507	5	RYR3	15	33873724	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		33873724	68657668	40	6723											
SLTM	79811	broad.mit.edu	37	chr15	59181723	59181723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgagttcctctctttctcGagcaatccgttcagcttcct	5	16	6	14	2	4	1	1	1	3	0	9	2	7	1	3	0	2	4	3	0	1	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:59181723G>C	ENST00000380516.2	-	16	2197	c.2110C>G	c.(2110-2112)Cga>Gga	p.R704G	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.R273G	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	704	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCTTTCTCGAGCAATCCGT	0.413																																						uc002afp.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2110-2112)Cga>Gga		Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.							239	197	211					15																	59181723		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59181723G>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2110C>G	15.37:g.59181723G>C	ENSP00000369887:p.Arg704Gly					SLTM_uc002afn.3_Missense_Mutation_p.R246G|SLTM_uc002afo.3_Missense_Mutation_p.R686G|SLTM_uc002afq.3_Missense_Mutation_p.R273G|SLTM_uc010bgd.3_Missense_Mutation_p.R273G	p.R704G	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			15	2198	-			704			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2110C>G	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204693	0.58234	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.22134	1.97	5.62	4.69	0.59074	.	0.000000	0.45126	D	0.000390	T	0.45478	0.1344	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.43589	-0.9382	10	0.52906	T	0.07	.	15.8756	0.79159	0.0:0.0:0.8634:0.1366	.	704;273	Q9NWH9;A8K5V8	SLTM_HUMAN;.	G	704;270;273	ENSP00000369887:R704G	ENSP00000369887:R704G	R	-	1	2	SLTM	56969015	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	6.080000	0.71299	1.356000	0.45884	0.655000	0.94253	CGA		0.413	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		C	59181723	G	C	59181723	3	2	98	1	0	0	0	0	1	0	0	0	14754	1066	37	5	1018	5	SLTM	15	59181723	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	25307999	59181723	43349669	41	6724											
CYP1A2	1544	broad.mit.edu	37	chr15	75042328	75042328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccgcattggctccacGcccgtgctggtgctgagccg	5	8	13	15	4	0	2	0	1	0	1	2	2	2	2	4	2	3	4	4	2	0	1	rs17861153	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:75042328G>A	ENST00000343932.4	+	2	312	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	83			T -> M (in allele CYP1A2*9). {ECO:0000269|PubMed:14563787}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.T83T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	TTGGCTCCACGCCCGTGCTGG	0.667																																						uc002ayr.1																			1	Substitution - coding silent(1)	p.T83T(2)	kidney(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(247-249)acG>acA		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	G		2,4392	4.2+/-10.8	0,2,2195	51	46	47		249	-9.9	0	15	dbSNP_123	47	13,8579	9.8+/-36.6	0,13,4283	no	coding-synonymous	CYP1A2	NM_000761.3		0,15,6478	AA,AG,GG		0.1513,0.0455,0.1155		83/517	75042328	15,12971	2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042328G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.249G>A	15.37:g.75042328G>A							p.T83T	NM_000761	NP_000752	P05177	CP1A2_HUMAN			1	313	+			83		T -> M (in allele CYP1A2*9).			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.249G>A	CCDS32293.1																																																																																				0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042328	G	A	75042328	2	1	98	1	0	0	0	0	0	0	0	1	4150	1074	38	1		1	CYP1A2	15	75042328	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	15860605	75042328	27489064	42	6725											
IL4R	3566	broad.mit.edu	37	chr16	27374339	27374339	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagcagatcctccgcCgaaatgtcctccagcatggg	8	7	12	14	2	0	1	0	0	0	1	4	3	4	2	6	2	2	2	6	2	1	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:27374339C>T	ENST00000395762.2	+	11	1925	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	IL4R_ENST00000380922.3_Nonsense_Mutation_p.R541*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R556*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R556*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	556	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATCCTCCGCCGAAATGTCCT	0.637																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1666-1668)Cga>Tga		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							29	33	31					16																	27374339		2196	4300	6496	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374339C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1666C>T	16.37:g.27374339C>T	ENSP00000379111:p.Arg556*					IL4R_uc002dop.4_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.3_Nonsense_Mutation_p.R556*|IL4R_uc002doo.3_Nonsense_Mutation_p.R396*	p.R556*	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	1908	+			556			Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.1666C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	37	6.259888	0.97421	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	5.16	3.14	0.36123	.	6.252000	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-6.6276	6.1989	0.20565	0.1908:0.7127:0.0:0.0965	.	.	.	.	X	556;556;541;556	.	ENSP00000170630:R556X	R	+	1	2	IL4R	27281840	0.010000	0.17322	0.005000	0.12908	0.109000	0.19521	1.471000	0.35365	0.532000	0.28657	0.555000	0.69702	CGA		0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27374339	C	T	27374339	4	4	98	1	0	0	0	0	0	1	0	0	7698	644	23	2	1718	2	IL4R	16	27374339	Nonsense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		27374339	62980414	43	6726											
IRX6	79190	broad.mit.edu	37	chr16	55361572	55361572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccaccagtacactcaaggCctggctcaacgagcaccgca	12	4	9	16	2	2	0	2	0	0	0	2	2	2	0	4	2	3	4	4	2	3	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:55361572C>T	ENST00000290552.7	+	4	1820	c.488C>T	c.(487-489)gCc>gTc	p.A163V	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	163					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACACTCAAGGCCTGGCTCAAC	0.592																																						uc002ehy.3																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(487-489)gCc>gTc		Homo sapiens iroquois homeobox 6 (IRX6), mRNA.							111	84	93					16																	55361572		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361572C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.488C>T	16.37:g.55361572C>T	ENSP00000290552:p.Ala163Val					IRX6_uc002ehx.3_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_Non-coding_Transcript	p.A163V	NM_024335	NP_077311	P78412	IRX6_HUMAN			3	1021	+			163					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.488C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947897	0.97134	.	.	ENSG00000159387	ENST00000290552	D	0.84660	-1.88	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.053328	0.85682	D	0.000000	D	0.92084	0.7491	M	0.85542	2.76	0.80722	D	1	D;D	0.62365	0.976;0.991	P;P	0.56042	0.625;0.79	D	0.92578	0.6072	10	0.87932	D	0	-26.6319	20.023	0.97509	0.0:1.0:0.0:0.0	.	163;62	P78412;Q9BZI2	IRX6_HUMAN;.	V	163	ENSP00000290552:A163V	ENSP00000290552:A163V	A	+	2	0	IRX6	53919073	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.728000	0.84847	2.837000	0.97791	0.655000	0.94253	GCC		0.592	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55361572	C	T	55361572	3	4	98	1	0	0	0	0	1	0	0	0	7848	739	26	3	502	3	IRX6	16	55361572	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	27987233	55361572	34993181	44	6727											
SOX9	6662	broad.mit.edu	37	chr17	70118954	70118954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccggattacaagtaccagCcgcggcggaggaagtcggtg	10	5	15	11	5	0	0	0	0	0	0	1	3	0	3	3	5	3	1	3	5	4	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:70118954C>T	ENST00000245479.2	+	2	898	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	176					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAAGTACCAGCCGCGGCGGAG	0.652																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(526-528)Ccg>Tcg		Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.							58	61	60					17																	70118954		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70118954C>T	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.526C>T	17.37:g.70118954C>T	ENSP00000245479:p.Pro176Ser					AK094963_uc002jiv.3_5'Flank	p.P176S	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		1	898	+		Colorectal(1115;0.245)	176					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.526C>T	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135321	0.94517	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.94457	-3.43	4.7	3.73	0.42828	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98210	1.0472	10	0.87932	D	0	.	12.4406	0.55623	0.0:0.9183:0.0:0.0817	.	176	P48436	SOX9_HUMAN	S	176	ENSP00000245479:P176S	ENSP00000245479:P176S	P	+	1	0	SOX9	67630549	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.610000	0.82949	0.974000	0.38366	0.561000	0.74099	CCG		0.652	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		T	70118954	C	T	70118954	3	4	98	1	0	0	0	0	1	0	0	0	14958	739	26	3	532	3	SOX9	17	70118954	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		70118954	11076256	45	6728											
OTOP3	347741	broad.mit.edu	37	chr17	72943010	72943010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggcaggtgtgtgcGtctttgtgctcttccaaatc	4	15	12	10	1	2	0	0	0	2	0	4	0	3	0	1	2	4	4	1	2	1	2	rs372869932		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:72943010G>A	ENST00000328801.4	+	6	1060	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	354						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGTGTGTGCGTCTTTGTGCT	0.627																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1060-1062)Gtc>Atc		Homo sapiens otopetrin 3 (OTOP3), mRNA.		A	ILE/VAL	0,4406		0,0,2203	55	47	50		1060	-0.1	0.5	17		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOP3	NM_178233.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	354/597	72943010	1,13005	2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943010G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1060G>A	17.37:g.72943010G>A	ENSP00000328090:p.Val354Ile					OTOP3_uc010wrq.2_Missense_Mutation_p.V336I	p.V354I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			5	1060	+	all_lung(278;0.151)|Lung NSC(278;0.185)		354						Missense_Mutation	SNP	ENST00000328801.4	37	c.1060G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	g	2.634	-0.285602	0.05605	0.0	1.16E-4	ENSG00000182938	ENST00000328801	T	0.23348	1.91	4.4	-0.139	0.13460	.	0.407810	0.23889	N	0.043566	T	0.17874	0.0429	L	0.35854	1.095	0.09310	N	0.999997	B	0.21381	0.055	B	0.20577	0.03	T	0.18999	-1.0319	10	0.30854	T	0.27	-25.2045	10.8716	0.46887	0.3768:0.0:0.6232:0.0	.	354	Q7RTS5	OTOP3_HUMAN	I	354	ENSP00000328090:V354I	ENSP00000328090:V354I	V	+	1	0	OTOP3	70454605	0.001000	0.12720	0.536000	0.28039	0.027000	0.11550	-0.097000	0.11042	-0.246000	0.09611	-1.295000	0.01343	GTC		0.627	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		A	72943010	G	A	72943010	3	1	98	1	0	0	0	0	1	0	0	0	11307	1145	40	1	1082	1	OTOP3	17	72943010	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	2824056	72943010	8252200	46	6729											
EPB41L3	23136	broad.mit.edu	37	chr18	5395093	5395093	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaatgtctgcatccccCgtgatgactattcgcttctc	6	14	8	13	2	3	2	1	2	2	0	6	2	4	2	2	1	1	2	2	1	2	3	rs144676596		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:5395093C>A	ENST00000341928.2	-	21	3466	c.3126G>T	c.(3124-3126)acG>acT	p.T1042T	EPB41L3_ENST00000400111.3_Silent_p.T820T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Silent_p.T1042T|EPB41L3_ENST00000540638.2_Silent_p.T820T|EPB41L3_ENST00000544123.1_Silent_p.T873T|EPB41L3_ENST00000542146.1_Silent_p.T347T|EPB41L3_ENST00000427684.2_Silent_p.T339T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1042	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T1042T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGCATCCCCCGTGATGACTA	0.448																																						uc002kmt.1																			1	Substitution - coding silent(1)	p.T1042T(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3124-3126)acG>acT		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							150	128	136					18																	5395093		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395093C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3126G>T	18.37:g.5395093C>A						EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T	p.T1042T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			20	3212	-			1042			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.3126G>T	CCDS11838.1																																																																																				0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5395093	C	A	5395093	2	1	98	1	0	0	0	0	0	0	0	1	5154	639	23	5		5	EPB41L3	18	5395093	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		5395093	72682155	47	6730											
FBXO15	201456	broad.mit.edu	37	chr18	71791770	71791770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaaggtgatgaaaatGaagatttgccataacaaaag	18	8	8	7	0	0	4	0	3	0	1	1	4	1	4	2	1	2	0	2	1	7	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:71791770G>C	ENST00000419743.2	-	7	1028	c.949C>G	c.(949-951)Cat>Gat	p.H317D	FBXO15_ENST00000269500.5_Missense_Mutation_p.H241D	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	317						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGATGAAAATGAAGATTTGCC	0.328																																						uc002llf.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(949-951)Cat>Gat		Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.							166	161	162					18																	71791770		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71791770G>C	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.949C>G	18.37:g.71791770G>C	ENSP00000393154:p.His317Asp					FBXO15_uc002lle.2_Missense_Mutation_p.H241D	p.H317D	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	6	1029	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	241					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.949C>G	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867520	0.72065	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.53640	0.63;0.61	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	M	0.80183	2.485	0.51767	D	0.999938	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.75309	-0.3363	10	0.87932	D	0	-16.1319	16.4476	0.83942	0.0:0.0:1.0:0.0	.	317;241	B3KST3;Q8NCQ5	.;FBX15_HUMAN	D	241;317	ENSP00000269500:H241D;ENSP00000393154:H317D	ENSP00000269500:H241D	H	-	1	0	FBXO15	69942750	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.918000	0.69996	2.476000	0.83614	0.563000	0.77884	CAT		0.328	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		C	71791770	G	C	71791770	3	2	98	1	0	0	0	0	1	0	0	0	5728	1290	45	5	599	5	FBXO15	18	71791770	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	66396677	71791770	6285478	48	6731											
FUT5	2527	broad.mit.edu	37	chr19	5867028	5867028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggggcttgtgggagcGtccgtacacgtccaccttga	6	8	16	11	3	0	1	0	1	0	0	2	2	2	2	3	4	2	3	3	4	1	3	rs200537067		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:5867028G>A	ENST00000588525.1	-	2	796	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	FUT5_ENST00000252675.5_Missense_Mutation_p.R237C	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	237					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGTGGGAGCGTCCGTACACG	0.622																																						uc002mdo.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(709-711)Cgc>Tgc		Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.							45	45	45					19																	5867028		2184	4269	6453	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867028G>A		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.709C>T	19.37:g.5867028G>A	ENSP00000466880:p.Arg237Cys					FUT5_uc010duo.3_Missense_Mutation_p.R237C|FUT5_uc021uno.1_Missense_Mutation_p.R237C	p.R237C	NM_002034	NP_002025	Q11128	FUT5_HUMAN			1	880	-			237					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.709C>T	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985566	0.35036	.	.	ENSG00000130383	ENST00000252675	T	0.26518	1.73	2.13	-4.27	0.03744	.	4.826560	0.01040	U	0.004297	T	0.49218	0.1544	M	0.88842	2.985	0.09310	N	1	D	0.57899	0.981	P	0.55161	0.77	T	0.59894	-0.7368	10	0.87932	D	0	.	9.7326	0.40370	0.0:0.0:0.3169:0.6831	.	237	Q11128	FUT5_HUMAN	C	237	ENSP00000252675:R237C	ENSP00000252675:R237C	R	-	1	0	FUT5	5818028	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.832000	0.04400	-0.770000	0.04614	-0.800000	0.03216	CGC		0.622	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		A	5867028	G	A	5867028	3	1	98	1	0	0	0	0	1	0	0	0	6107	1145	40	1	419	1	FUT5	19	5867028	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		5867028	53261955	49	6732											
MUC16	94025	broad.mit.edu	37	chr19	9091524	9091524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggctggttctttgctcGgagtgtgtcattcctctaga	5	15	13	8	1	3	1	1	0	2	1	5	3	4	2	1	3	1	3	1	3	1	4	rs375390174	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:9091524G>A	ENST00000397910.4	-	1	494	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	97	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTTTGCTCGGAGTGTGTCA	0.537													G|||	9	0.00179712	0.0068	0	5008	,	,		19717	0		0	False		,,,				2504	0					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(289-291)tcC>tcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		G		29,3943		0,29,1957	138	136	137		291	-2	0	19		137	1,8329		0,1,4164	no	coding-synonymous	MUC16	NM_024690.2		0,30,6121	AA,AG,GG		0.012,0.7301,0.2439		97/14508	9091524	30,12272	1986	4165	6151	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091524G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.291C>T	19.37:g.9091524G>A							p.S97S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	495	-			97			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.291C>T	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9091524	G	A	9091524	2	1	98	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9091524	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	3224496	9091524	50037459	50	6733											
LYPD4	147719	broad.mit.edu	37	chr19	42342222	42342222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagataagaccggcagaCgcgactgtaggaggcaatgg	13	4	16	8	3	0	3	0	0	0	3	0	6	0	4	1	4	0	4	1	4	3	2	rs142442476	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:42342222C>T	ENST00000330743.3	-	4	1536	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	LYPD4_ENST00000343055.4_Missense_Mutation_p.V74I|LYPD4_ENST00000601246.1_Missense_Mutation_p.V74I|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	109						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GACCGGCAGACGCGACTGTAG	0.522													-|||	4	0.000798722	0.0015	0.0029	5008	,	,		17852	0		0	False		,,,				2504	0					uc002orp.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(325-327)Gtc>Atc		Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.			ILE/VAL	13,4393	20.2+/-43.8	0,13,2190	142	122	129		325	-0.4	0.2	19	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	no	missense	LYPD4	NM_173506.4	29	0,16,6487	TT,TC,CC		0.0349,0.2951,0.123	benign	109/247	42342222	16,12990	2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342222C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.325G>A	19.37:g.42342222C>T	ENSP00000328737:p.Val109Ile					LYPD4_uc002orq.1_Missense_Mutation_p.V74I	p.V109I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			3	1309	-			109					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.325G>A	CCDS12587.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	10.47	1.359659	0.24598	0.002951	3.49E-4	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13778	3.27;2.56	4.03	-0.44	0.12261	.	0.469748	0.18111	N	0.151362	T	0.10078	0.0247	L	0.52126	1.63	0.19300	N	0.999971	B;B	0.27791	0.189;0.119	B;B	0.17722	0.019;0.008	T	0.20273	-1.0280	10	0.36615	T	0.2	-8.3817	6.2763	0.20983	0.0:0.5602:0.0:0.4398	.	74;109	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	I	109;74	ENSP00000328737:V109I;ENSP00000339568:V74I	ENSP00000328737:V109I	V	-	1	0	LYPD4	47034062	0.073000	0.21202	0.181000	0.23098	0.724000	0.41520	0.022000	0.13511	0.028000	0.15324	-0.389000	0.06534	GTC		0.522	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		T	42342222	C	T	42342222	3	4	98	1	0	0	0	0	1	0	0	0	9112	536	19	1	423	1	LYPD4	19	42342222	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	33250698	42342222	16786761	51	6734											
PSG2	5670	broad.mit.edu	37	chr19	43576027	43576027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccggtgggttagagttCgcgaagcaagacaagtagag	11	8	16	6	3	0	3	0	0	0	3	1	4	0	3	1	2	2	4	1	2	5	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43576027C>T	ENST00000406487.1	-	4	887	c.789G>A	c.(787-789)gcG>gcA	p.A263A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443																																						uc002ovr.3																			1	Substitution - coding silent(1)	p.A263A(2)|p.A263V(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(787-789)gcG>gcA		Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.							184	193	190					19																	43576027		2202	4299	6501	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576027C>T		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.789G>A	19.37:g.43576027C>T						PSG4_uc010xwk.1_Intron	p.A263A	NM_031246	NP_112536	P11465	PSG2_HUMAN			3	961	-		Prostate(69;0.00682)	263			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.789G>A	CCDS12616.1																																																																																				0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43576027	C	T	43576027	2	4	98	1	0	0	0	0	0	0	0	1	12655	871	31	2		2	PSG2	19	43576027	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	1233805	43576027	15552956	52	6735											
PSG4	5672	broad.mit.edu	37	chr19	43708378	43708378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttgggcagttgtgggCggattccagaagtttaaaag	10	11	15	5	1	0	2	0	1	0	1	1	3	1	3	1	3	0	3	1	3	3	5	rs533600298		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43708378C>T	ENST00000405312.3	-	2	327	c.90G>A	c.(88-90)ccG>ccA	p.P30P	PSG4_ENST00000244295.9_Silent_p.P30P|PSG4_ENST00000433626.2_Silent_p.P30P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	30					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.P30P(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAGTTGTGGGCGGATTCCAGA	0.468													C|||	1	0.000199681	0	0.0014	5008	,	,		15815	0		0	False		,,,				2504	0					uc002ovy.3																			2	Substitution - coding silent(2)	p.P30P(3)	large_intestine(2)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(88-90)ccG>ccA		Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.							118	131	127					19																	43708378		2137	4270	6407	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43708378C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.90G>A	19.37:g.43708378C>T						PSG4_uc002ovz.3_Silent_p.P30P|PSG4_uc002owb.3_Silent_p.P30P	p.P30P	NM_002780	NP_002771	Q00888	PSG4_HUMAN			1	192	-		Prostate(69;0.00682)	30					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.90G>A	CCDS46093.1																																																																																				0.468	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		T	43708378	C	T	43708378	2	4	98	1	0	0	0	0	0	0	0	1	12657	755	27	1		1	PSG4	19	43708378	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	132351	43708378	15420605	53	6736											
NLRP4	147945	broad.mit.edu	37	chr19	56370207	56370207	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagatgtgtacaggaatTgctagttgccaattttgaaa	12	14	11	4	0	0	2	0	2	0	1	0	4	0	3	1	1	3	3	1	1	5	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:56370207T>A	ENST00000301295.6	+	3	1870	c.1448T>A	c.(1447-1449)tTg>tAg	p.L483*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.L483*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.L408*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	483					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTACAGGAATTGCTAGTTGCC	0.423																																						uc002qmd.4																			0		p.E482K(1)|p.L483F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1447-1449)tTg>tAg		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							134	137	136					19																	56370207		2203	4300	6503	SO:0001587	stop_gained	147945						ATP binding	g.chr19:56370207T>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1448T>A	19.37:g.56370207T>A	ENSP00000301295:p.Leu483*					NLRP4_uc002qmf.3_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.3_Nonsense_Mutation_p.L314*	p.L483*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	1870	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	483					Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.1448T>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	38	7.071727	0.98044	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8059	0.34938	0.0:0.0:0.0:1.0	.	.	.	.	X	483	.	ENSP00000301295:L483X	L	+	2	0	NLRP4	61062019	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.505000	0.22642	1.840000	0.53500	0.533000	0.62120	TTG		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56370207	T	A	56370207	4	1	98	1	0	0	0	0	0	1	0	0	10479	1821	63	5	1454	5	NLRP4	19	56370207	Nonsense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	12661829	56370207	2758776	54	6737											
JAG1	182	broad.mit.edu	37	chr20	10644609	10644612	+	Splice_Site	DEL	ACGA	ACGA	-																															agtccacagaagcgatacttAcgaacggtgtcattactgga																										TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:10644609_10644612delACGA	ENST00000254958.5	-	3	953_955	c.438_440delTCGT	c.(436-441)gttcgt>gtt	p.R147fs	JAG1_ENST00000423891.2_5'Flank	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	147					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGCGATACTTACGAACGGTGTCAT	0.466									Alagille Syndrome																													uc002wnw.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44	GRCh37	CM061812|CS003182	JAG1	M|S		c.e3+1		Homo sapiens jagged 1 (JAG1), mRNA.																																				SO:0001630	splice_region_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10644609_10644612delACGA	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.439+1TCGT>-	20.37:g.10644609_10644612delACGA							p.Q147_splice	NM_000214	NP_000205	P78504	JAG1_HUMAN			3	955	-			147					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Splice_Site	DEL	ENST00000254958.5	37	c.439_splice	CCDS13112.1																																																																																				0.466	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	Frame_Shift_Del	-	10644612	ACGA	-	10644609	8	5	98	1	0	1	0	1	0	0	1	0	7934	405	14	0	3311	0	JAG1	20	10644609	Splice_Site	DEL	ACGA	TCGA-06-6388-01A-12D-1845-08		10644609	52380911	55	6738											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493785	20493785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggagccttccacatGggcattgtcatggttctcgc	6	11	11	13	2	2	0	1	0	1	0	5	1	3	1	2	3	2	3	2	3	0	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:20493785G>A	ENST00000202677.7	-	32	4235	c.4228C>T	c.(4228-4230)Cat>Tat	p.H1410Y		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1410					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCTTCCACATGGGCATTGTCA	0.547																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(4228-4230)Cat>Tat		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							49	47	48					20																	20493785		1968	4149	6117	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493785G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4228C>T	20.37:g.20493785G>A	ENSP00000202677:p.His1410Tyr					RALGAPA2_uc002wry.3_Missense_Mutation_p.H1025Y|RALGAPA2_uc010zsg.2_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y	p.H1410Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			31	4371	-			1410					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4228C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004705	0.07773	.	.	ENSG00000188559	ENST00000202677	D	0.94576	-3.46	5.62	4.45	0.53987	.	0.059706	0.64402	D	0.000002	T	0.81297	0.4793	N	0.03071	-0.42	0.40334	D	0.978962	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.0;0.004;0.001	T	0.74399	-0.3678	9	.	.	.	.	4.1809	0.10374	0.3122:0.0:0.6878:0.0	.	1248;1410;1410	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	Y	1410	ENSP00000202677:H1410Y	.	H	-	1	0	RALGAPA2	20441785	1.000000	0.71417	0.119000	0.21687	0.910000	0.53928	6.423000	0.73361	2.803000	0.96430	0.591000	0.81541	CAT		0.547	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		A	20493785	G	A	20493785	3	1	98	1	0	0	0	0	1	0	0	0	13014	1348	47	3	1425	3	RALGAPA2	20	20493785	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	9849176	20493785	42531735	56	6739											
MYH7B	57644	broad.mit.edu	37	chr20	33584258	33584258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggccctgggtgacctgcAggccgaggaggaccgtgtga	8	5	17	11	2	0	2	0	2	0	0	0	5	0	4	4	5	1	1	4	5	0	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:33584258A>G	ENST00000262873.7	+	27	3271	c.3179A>G	c.(3178-3180)cAg>cGg	p.Q1060R		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1018						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGACCTGCAGGCCGAGGAG	0.672																																						uc002xbi.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3178-3180)cAg>cGg		Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.							29	34	32					20																	33584258		2201	4299	6500	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33584258A>G	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3179A>G	20.37:g.33584258A>G	ENSP00000262873:p.Gln1060Arg						p.Q1060R	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		28	3496	+			1018					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.3179A>G	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018656	0.54576	.	.	ENSG00000078814	ENST00000262873	D	0.86956	-2.19	4.68	4.68	0.58851	.	0.000000	0.35936	N	0.002898	D	0.88291	0.6397	M	0.86178	2.8	0.51012	D	0.999904	B	0.16166	0.016	B	0.11329	0.006	D	0.87094	0.2174	10	0.59425	D	0.04	.	14.6158	0.68547	1.0:0.0:0.0:0.0	.	1018	A7E2Y1	MYH7B_HUMAN	R	1060	ENSP00000262873:Q1060R	ENSP00000262873:Q1060R	Q	+	2	0	MYH7B	33047919	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.322000	0.79097	2.107000	0.64212	0.533000	0.62120	CAG		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		G	33584258	A	G	33584258	3	3	98	1	0	0	0	0	1	0	0	0	10040	188	7	4	3285	4	MYH7B	20	33584258	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	13090473	33584258	29441262	57	6740											
NPBWR2	2832	broad.mit.edu	37	chr20	62737704	62737704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgaccttcgccccccGgtaggtgcgccagggcatgt	4	7	15	15	4	0	0	0	0	0	0	1	1	0	0	5	4	1	3	5	4	1	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:62737704G>A	ENST00000369768.1	-	1	820	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	161					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.R161W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TTCGCCCCCCGGTAGGTGCGC	0.632																																						uc011abt.2																			1	Substitution - Missense(1)	p.R161W(2)|p.R161Q(1)	upper_aerodigestive_tract(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(481-483)Cgg>Tgg		Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.							20	22	21					20																	62737704		2192	4269	6461	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737704G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.481C>T	20.37:g.62737704G>A	ENSP00000358783:p.Arg161Trp						p.R161W	NM_005286	NP_005277	P48146	NPBW2_HUMAN			0	481	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		161					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.481C>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.451033	0.26074	.	.	ENSG00000125522	ENST00000369768	T	0.42900	0.96	3.51	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.090637	0.45361	U	0.000374	T	0.62159	0.2405	M	0.84511	2.7	0.33843	D	0.631693	D	0.89917	1.0	D	0.68765	0.96	T	0.71958	-0.4435	10	0.44086	T	0.13	.	10.9593	0.47376	0.0:0.0:0.6622:0.3378	.	161	P48146	NPBW2_HUMAN	W	161	ENSP00000358783:R161W	ENSP00000358783:R161W	R	-	1	2	NPBWR2	62208148	0.983000	0.35010	0.000000	0.03702	0.071000	0.16799	0.607000	0.24209	0.403000	0.25479	-0.500000	0.04577	CGG		0.632	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		A	62737704	G	A	62737704	3	1	98	1	0	0	0	0	1	0	0	0	10569	1115	39	2	523	2	NPBWR2	20	62737704	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	29153446	62737704	287816	58	6741											
WWC3	55841	broad.mit.edu	37	chrX	10106937	10106937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgggtgcttcgggaCgagcggctccgtggcctgct	3	8	15	15	4	0	0	0	0	0	0	2	2	1	1	4	4	3	3	4	4	0	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:10106937C>T	ENST00000380861.4	+	21	3436	c.3045C>T	c.(3043-3045)gaC>gaT	p.D1015D	WWC3_ENST00000454666.1_Silent_p.D1015D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1015					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGCTTCGGGACGAGCGGCTCC	0.711																																						uc004csx.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(3043-3045)gaC>gaT		Homo sapiens WWC family member 3 (WWC3), mRNA.							17	17	17					X																	10106937		2188	4276	6464	SO:0001819	synonymous_variant	55841							g.chrX:10106937C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3045C>T	X.37:g.10106937C>T						WWC3_uc010nds.3_Silent_p.D679D|WWC3_uc010ndt.3_Non-coding_Transcript	p.D1015D	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			20	3243	+			1015					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.3045C>T	CCDS14136.1																																																																																				0.711	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10106937	C	T	10106937	2	4	98	1	0	0	0	0	0	0	0	1	17410	535	19	1		1	WWC3	23	10106937	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		10106937	145163623	59	6742											
MAGED2	10916	broad.mit.edu	37	chrX	54841851	54841851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccctgcaactgggaCgaagctgatatcggaccctg	8	6	14	13	3	0	1	0	1	0	0	1	4	0	3	3	3	3	2	3	3	3	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:54841851C>T	ENST00000375068.1	+	12	1790	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	MAGED2_ENST00000375060.1_Silent_p.D434D|MAGED2_ENST00000347546.4_Silent_p.D501D|MAGED2_ENST00000218439.4_Silent_p.D519D|MAGED2_ENST00000396224.1_Silent_p.D519D|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Silent_p.D519D|MAGED2_ENST00000375062.4_Silent_p.D434D|MAGED2_ENST00000375053.2_Silent_p.D519D			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	519						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCAACTGGGACGAAGCTGATA	0.617																																						uc004dtk.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1555-1557)gaC>gaT		Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.							23	23	23					X																	54841851		2203	4296	6499	SO:0001819	synonymous_variant	10916							g.chrX:54841851C>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1557C>T	X.37:g.54841851C>T						MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D	p.D519D	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN			11	1651	+			519					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	c.1557C>T	CCDS14362.1																																																																																				0.617	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		T	54841851	C	T	54841851	2	4	98	1	0	0	0	0	0	0	0	1	9184	535	19	1		1	MAGED2	23	54841851	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	44734914	54841851	100428709	60	6743											
NLGN3	54413	broad.mit.edu	37	chrX	70368006	70368006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgctacttacatccaggAgcccaacgaagactgtctct	10	9	8	14	3	1	1	0	0	1	1	4	3	2	2	2	1	4	1	2	1	4	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:70368006A>G	ENST00000358741.3	+	2	710	c.407A>G	c.(406-408)gAg>gGg	p.E136G	NLGN3_ENST00000536169.1_Missense_Mutation_p.E136G|NLGN3_ENST00000374051.3_Missense_Mutation_p.E136G	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	136					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TACATCCAGGAGCCCAACGAA	0.612																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzd.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(406-408)gAg>gGg		Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.							145	94	111					X																	70368006		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70368006A>G	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.407A>G	X.37:g.70368006A>G	ENSP00000351591:p.Glu136Gly					NLGN3_uc004dzb.3_Missense_Mutation_p.E136G|NLGN3_uc011mps.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.3_Missense_Mutation_p.E19G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G	p.E136G	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN			1	741	+	Renal(35;0.156)		136					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.407A>G	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568065	0.45798	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.79	4.79	0.61399	.	0.294316	0.39687	N	0.001291	T	0.47432	0.1445	N	0.16790	0.44	0.58432	D	0.99999	B;B;B	0.32781	0.017;0.384;0.014	B;B;B	0.39935	0.065;0.314;0.039	T	0.52866	-0.8518	10	0.54805	T	0.06	.	13.5479	0.61715	1.0:0.0:0.0:0.0	.	136;136;136	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	G	136;19;136;136;136	ENSP00000445298:E136G;ENSP00000363163:E136G;ENSP00000379196:E136G;ENSP00000351591:E136G	ENSP00000351591:E136G	E	+	2	0	NLGN3	70284731	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.761000	0.91691	1.771000	0.52183	0.417000	0.27973	GAG		0.612	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		G	70368006	A	G	70368006	3	3	98	1	0	0	0	0	1	0	0	0	10463	304	11	4	409	4	NLGN3	23	70368006	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	15526155	70368006	84902554	61	6744											
ATRX	546	broad.mit.edu	37	chrX	76937694	76937694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcttctcgctcaggtaaCttttcagtgccatcagatga	9	15	7	10	1	5	2	3	1	2	1	6	2	5	2	1	1	2	2	1	1	1	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:76937694C>A	ENST00000373344.5	-	9	3268	c.3054G>T	c.(3052-3054)aaG>aaT	p.K1018N	ATRX_ENST00000395603.3_Missense_Mutation_p.K980N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1018					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCTCAGGTAACTTTTCAGTGC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3052-3054)aaG>aaT		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						69	72	71					X																	76937694		2198	4285	6483	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937694C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3054G>T	X.37:g.76937694C>A	ENSP00000362441:p.Lys1018Asn					ATRX_uc004ecq.4_Missense_Mutation_p.K980N|ATRX_uc004eco.4_Missense_Mutation_p.K803N|ATRX_uc004ecr.2_Missense_Mutation_p.K950N|ATRX_uc010nlx.1_Missense_Mutation_p.K989N|ATRX_uc010nly.1_Missense_Mutation_p.K963N	p.K1018N	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	3286	-			1018					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3054G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254656	0.22965	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93659	-3.26;-3.26	5.56	0.695	0.18070	.	0.398362	0.25514	N	0.030159	D	0.90796	0.7110	L	0.34521	1.04	0.39136	D	0.961958	P;D;P;P	0.56746	0.883;0.977;0.928;0.883	B;P;P;B	0.52856	0.444;0.711;0.647;0.444	D	0.88938	0.3378	10	0.66056	D	0.02	-11.8485	9.5098	0.39069	0.0:0.4138:0.0:0.5862	.	1018;950;980;1018	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	1018;980;945	ENSP00000362441:K1018N;ENSP00000378967:K980N	ENSP00000362441:K1018N	K	-	3	2	ATRX	76824350	0.154000	0.22792	0.649000	0.29536	0.964000	0.63967	-0.122000	0.10627	0.256000	0.21614	0.513000	0.50165	AAG		0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76937694	C	A	76937694	3	1	98	1	0	0	0	0	1	0	0	0	1208	564	20	5	4532	5	ATRX	23	76937694	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	6569688	76937694	78332866	62	6745											
STAG2	10735	broad.mit.edu	37	chrX	123205085	123205085	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttagagccattagtgtaTacccctgattcttcattgca	10	15	7	9	0	2	2	1	1	1	1	2	2	2	2	3	0	3	3	3	0	4	7			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:123205085T>A	ENST00000371160.1	+	25	2735	c.2445T>A	c.(2443-2445)taT>taA	p.Y815*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Y815*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Y815*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Y815*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Y815*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Y746*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	815					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATTAGTGTATACCCCTGATT	0.363																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2443-2445)taT>taA		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							224	194	204					X																	123205085		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123205085T>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2445T>A	X.37:g.123205085T>A	ENSP00000360202:p.Tyr815*					STAG2_uc004etz.4_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y815*	p.Y815*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			24	2849	+			815					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.2445T>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	41	9.072606	0.99057	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.44	0.632	0.17705	.	0.129187	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0362	9.4512	0.38727	0.0:0.5612:0.0:0.4388	.	.	.	.	X	815;746;815;815;815;815	.	ENSP00000218089:Y815X	Y	+	3	2	STAG2	123032766	0.995000	0.38212	0.980000	0.43619	0.824000	0.46624	0.443000	0.21644	-0.346000	0.08312	-1.174000	0.01732	TAT		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123205085	T	A	123205085	4	1	98	1	0	0	0	0	0	1	0	0	15242	1413	49	5	2535	5	STAG2	23	123205085	Nonsense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	46267391	123205085	32065475	63	6746											
C1orf172	126695	broad.mit.edu	37	chr1	27278819	27278819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgttggccgctcccacGgtcccaagcgtggaggccca	5	7	13	16	3	1	0	0	0	1	0	3	1	3	1	4	4	1	3	4	4	1	1	rs145806681	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27278819G>A	ENST00000320567.5	-	2	141	c.53C>T	c.(52-54)cCg>cTg	p.P18L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		18	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCTCCCACGGTCCCAAGCG	0.652																																						uc001bni.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(52-54)cCg>cTg		Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.		G	LEU/PRO	7,4241		0,7,2117	35	39	38		53	4.1	1	1	dbSNP_134	38	0,8354		0,0,4177	yes	missense	C1orf172	NM_152365.2	98	0,7,6294	AA,AG,GG		0.0,0.1648,0.0555	probably-damaging	18/399	27278819	7,12595	2124	4177	6301	SO:0001583	missense	126695							g.chr1:27278819G>A																												ENST00000320567.5:c.53C>T	1.37:g.27278819G>A	ENSP00000319179:p.Pro18Leu					BC016143_uc021ojq.1_Intron	p.P18L	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	146	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	18			Pro-rich.		Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.53C>T	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521668	0.64747	0.001648	0.0	ENSG00000175707	ENST00000320567;ENST00000374109	T	0.31769	1.48	5.0	4.06	0.47325	.	0.151515	0.45361	D	0.000377	T	0.34337	0.0894	N	0.24115	0.695	0.53688	D	0.999972	D	0.64830	0.994	P	0.56278	0.795	T	0.20739	-1.0266	10	0.87932	D	0	.	12.954	0.58416	0.0:0.1641:0.8359:0.0	.	18	Q8NAX2	CA172_HUMAN	L	18	ENSP00000319179:P18L	ENSP00000319179:P18L	P	-	2	0	C1orf172	27151406	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	2.445000	0.44899	1.289000	0.44618	0.650000	0.86243	CCG		0.652	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			A	27278819	G	A	27278819	3	1	99	1	0	0	0	0	1	0	0	0	2013	1116	39	2	1155	2	C1orf172	1	27278819	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		27278819	221971802	1	6747											
AHDC1	27245	broad.mit.edu	37	chr1	27876436	27876436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcccagtcacagcgtctaCctccccccggccccgtttgc	4	9	7	21	3	2	0	1	0	1	0	4	0	4	0	7	1	3	1	7	1	1	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27876436C>A	ENST00000247087.5	-	5	2787	c.2191G>T	c.(2191-2193)Gta>Tta	p.V731L	AHDC1_ENST00000374011.2_Missense_Mutation_p.V731L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	731	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACAGCGTCTACCTCCCCCCGG	0.662																																						uc021ojw.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2191-2193)Gta>Tta		Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.							37	35	35					1																	27876436		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27876436C>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2191G>T	1.37:g.27876436C>A	ENSP00000247087:p.Val731Leu					AHDC1_uc009vsy.3_Missense_Mutation_p.V731L|AHDC1_uc009vsz.1_Missense_Mutation_p.V731L	p.V731L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	0	2191	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	731			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2191G>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073666	0.36566	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.47869	0.83;0.83	5.78	3.76	0.43208	.	0.409627	0.19591	N	0.110606	T	0.30166	0.0756	N	0.14661	0.345	0.24503	N	0.994242	B	0.18741	0.03	B	0.21917	0.037	T	0.20874	-1.0262	10	0.49607	T	0.09	-5.9808	9.2772	0.37707	0.1352:0.542:0.3228:0.0	.	731	Q5TGY3	AHDC1_HUMAN	L	731	ENSP00000247087:V731L;ENSP00000363123:V731L	ENSP00000247087:V731L	V	-	1	0	AHDC1	27749023	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	2.159000	0.42339	1.395000	0.46643	0.650000	0.86243	GTA		0.662	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			A	27876436	C	A	27876436	3	1	99	1	0	0	0	0	1	0	0	0	412	507	18	5	2624	5	AHDC1	1	27876436	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	597617	27876436	221374185	2	6748											
LAMC2	3918	broad.mit.edu	37	chr1	183177131	183177131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacactgatggcattcactgCgagaagtgcaagaatggctt	13	9	11	8	1	1	3	1	1	0	2	1	4	1	3	0	2	3	3	0	2	4	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:183177131C>T	ENST00000264144.4	+	2	260	c.195C>T	c.(193-195)tgC>tgT	p.C65C	LAMC2_ENST00000493293.1_Silent_p.C65C	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	65	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCATTCACTGCGAGAAGTGCA	0.493																																						uc001gqa.2																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(193-195)tgC>tgT		Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.							283	272	276					1																	183177131		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177131C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.195C>T	1.37:g.183177131C>T						LAMC2_uc001gpz.4_Silent_p.C65C|LAMC2_uc010poa.2_5'UTR	p.C65C	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			1	509	+			65			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.195C>T	CCDS1352.1																																																																																				0.493	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		T	183177131	C	T	183177131	2	4	99	1	0	0	0	0	0	0	0	1	8615	776	27	1		1	LAMC2	1	183177131	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	155300695	183177131	66073490	3	6749											
NEK2	4751	broad.mit.edu	37	chr1	211836944	211836944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctctttactttcccCactgaaatgaactttcttct	8	18	4	11	0	3	2	0	2	3	0	5	3	4	2	2	0	2	1	2	0	3	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:211836944C>T	ENST00000366999.4	-	8	1300	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	NEK2_ENST00000540251.1_Missense_Mutation_p.G345R|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	388	Interaction with PCNT.|Necessary for interaction with MAD1L1.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTACTTTCCCCACTGAAATGA	0.403																																						uc001hir.2																			0				breast(2)|stomach(1)	3						c.(1162-1164)Ggg>Agg		Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.							39	40	40					1																	211836944		2203	4298	6501	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211836944C>T	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.1162G>A	1.37:g.211836944C>T	ENSP00000355966:p.Gly388Arg					NEK2_uc021piq.1_Intron|NEK2_uc021pir.1_Missense_Mutation_p.G130R	p.G388R	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	7	1313	-			388			Interaction with PCNT.|Necessary for interaction with MAD1L1.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.1162G>A	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676852	0.47886	.	.	ENSG00000117650	ENST00000366999;ENST00000540251	T;T	0.35236	1.32;1.32	5.36	4.45	0.53987	.	0.155090	0.56097	N	0.000021	T	0.30947	0.0781	L	0.56769	1.78	0.49130	D	0.99975	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.09185	-1.0686	10	0.15952	T	0.53	.	9.4775	0.38880	0.0:0.8357:0.0:0.1642	.	388;380	P51955;P51955-4	NEK2_HUMAN;.	R	388;345	ENSP00000355966:G388R;ENSP00000440237:G345R	ENSP00000355966:G388R	G	-	1	0	NEK2	209903567	0.333000	0.24731	0.991000	0.47740	0.960000	0.62799	1.655000	0.37345	1.392000	0.46585	0.650000	0.86243	GGG		0.403	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		T	211836944	C	T	211836944	3	4	99	1	0	0	0	0	1	0	0	0	10324	594	21	3	179	3	NEK2	1	211836944	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	28659813	211836944	37413677	4	6750											
OR2W5	441932	broad.mit.edu	37	chr1	247655038	247655038	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgattcacctttgccctggGggtggctctcctcctggtgc	2	12	13	14	1	2	0	1	0	1	0	4	1	3	0	4	4	2	1	4	4	0	2	rs560353155		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:247655038G>A	ENST00000522351.1	+	0	669							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTTGCCCTGGGGGTGGCTCTC	0.572													G|||	1	0.000199681	0	0	5008	,	,		18506	0		0	False		,,,				2504	0.001					uc001icz.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39						c.(607-609)ggG>ggA		Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.							122	126	125					1																	247655038		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655038G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655038G>A							p.G203G	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	669	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	203					B9EH85	Silent	SNP	ENST00000522351.1	37	c.609G>A																																																																																					0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		A	247655038	G	A	247655038	1	1	99	0	1	0	0	0	0	0	0	0	11034	1219	43	3		3	OR2W5	1	247655038	RNA	SNP	G	TCGA-06-6389-01A-11D-1696-08	35818094	247655038	1595583	5	6751											
OR2L2	26246	broad.mit.edu	37	chr1	248202130	248202130	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctatgttgacgctagcCtgcacagacacttgggtcta	9	10	10	12	1	1	2	0	1	1	1	1	2	1	2	2	1	3	4	2	1	3	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:248202130C>G	ENST00000366479.2	+	1	657	c.561C>G	c.(559-561)gcC>gcG	p.A187A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGACGCTAGCCTGCACAGACA	0.458																																						uc001idw.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(559-561)gcC>gcG		Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.							277	242	254					1																	248202130		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202130C>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.561C>G	1.37:g.248202130C>G						OR2L13_uc001ids.3_Intron	p.A187A	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	657	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		187					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.561C>G	CCDS31103.1																																																																																				0.458	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		G	248202130	C	G	248202130	2	3	99	1	0	0	0	0	0	0	0	1	11007	668	24	5		5	OR2L2	1	248202130	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	547092	248202130	1048491	6	6752											
IFT172	26160	broad.mit.edu	37	chr2	27669199	27669200	+	Frame_Shift_Del	DEL	AG	AG	-																															gtgtgacgcaagagtgaaacAgaaagcctggcagccacggt																										TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:27669199_27669200delAG	ENST00000260570.3	-	43	4785_4786	c.4682_4683delCT	c.(4681-4683)tctfs	p.S1561fs	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1561					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGAGTGAAACAGAAAGCCTGGC	0.505																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4681-4683)tctfs		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27669199_27669200delAG	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4682_4683delCT	2.37:g.27669199_27669200delAG	ENSP00000260570:p.Ser1561fs					KRTCAP3_uc021vfd.1_3'UTR|IFT172_uc010ezb.3_Non-coding_Transcript	p.S1561fs	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			42	4733_4734	-	Acute lymphoblastic leukemia(172;0.155)		1561					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.4682_4683delCT	CCDS1755.1																																																																																				0.505	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		-	27669200	AG	-	27669199	7	5	99	1	0	1	0	1	0	0	0	0	7557	175	7	0	590	0	IFT172	2	27669199	Frame_Shift_Del	DEL	AG	TCGA-06-6389-01A-11D-1696-08		27669199	215530174	7	6753											
FABP1	2168	broad.mit.edu	37	chr2	88425819	88425819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccattctgcacgatttccGacacccccttgatatccttc	7	13	4	17	2	1	1	0	1	1	0	5	3	4	1	5	0	1	1	5	0	1	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:88425819G>A	ENST00000295834.3	-	2	214	c.116C>T	c.(115-117)tCg>tTg	p.S39L	FABP1_ENST00000393750.3_Missense_Mutation_p.S39L|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	39					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CACGATTTCCGACACCCCCTT	0.527																																						uc002sst.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(115-117)tCg>tTg		Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.							302	251	269					2																	88425819		2203	4300	6503	SO:0001583	missense	2168				organ morphogenesis			g.chr2:88425819G>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"Fatty acid binding protein family"	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.116C>T	2.37:g.88425819G>A	ENSP00000295834:p.Ser39Leu						p.S39L	NM_001443	NP_001434	P07148	FABPL_HUMAN			1	230	-			39						Missense_Mutation	SNP	ENST00000295834.3	37	c.116C>T	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.15603	2.41;2.41	5.81	4.93	0.64822	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.546602	0.21806	N	0.068846	T	0.16769	0.0403	L	0.36672	1.1	0.21950	N	0.999452	B;B	0.28998	0.23;0.107	B;B	0.31191	0.125;0.054	T	0.16305	-1.0407	10	0.72032	D	0.01	.	13.6077	0.62056	0.0753:0.0:0.9247:0.0	.	39;39	A8MW49;P07148	.;FABPL_HUMAN	L	39	ENSP00000295834:S39L;ENSP00000377351:S39L	ENSP00000295834:S39L	S	-	2	0	FABP1	88206934	0.998000	0.40836	0.012000	0.15200	0.776000	0.43924	7.159000	0.77483	1.469000	0.48083	0.558000	0.71614	TCG		0.527	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		A	88425819	G	A	88425819	3	1	99	1	0	0	0	0	1	0	0	0	5355	1059	37	2	279	2	FABP1	2	88425819	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	60756620	88425819	154773554	8	6754											
NCAPH	23397	broad.mit.edu	37	chr2	97007486	97007486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccctgcccaggaaggcGcctctcaatattcctggcac	8	8	9	16	1	1	0	1	0	1	0	3	1	2	1	5	3	2	1	5	3	3	2	rs139287054		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:97007486G>A	ENST00000240423.4	+	2	169	c.126G>A	c.(124-126)gcG>gcA	p.A42A	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000455200.1_Silent_p.A31A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	42					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGAAGGCGCCTCTCAATA	0.582																																						uc002svz.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(124-126)gcG>gcA		Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	71	76	74		126	-3.7	0.6	2	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	NCAPH	NM_015341.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		42/742	97007486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007486G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.126G>A	2.37:g.97007486G>A						NCAPH_uc010fhu.1_Silent_p.A18A|NCAPH_uc010fhv.1_Silent_p.A31A|NCAPH_uc010yum.1_Silent_p.A18A|NCAPH_uc010yun.1_Intron	p.A42A	NM_015341	NP_056156	Q15003	CND2_HUMAN			1	210	+		Ovarian(717;0.0221)	42					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.126G>A	CCDS2021.1																																																																																				0.582	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		A	97007486	G	A	97007486	2	1	99	1	0	0	0	0	0	0	0	1	10209	1074	38	1		1	NCAPH	2	97007486	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	8581667	97007486	146191887	9	6755											
INHBB	3625	broad.mit.edu	37	chr2	121107075	121107075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcaggctcggctgggCgacagcaggcaccgcattcg	6	6	17	12	4	0	0	0	0	0	0	2	1	0	0	1	5	2	6	1	5	0	1	rs61737548	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:121107075C>T	ENST00000295228.3	+	2	895	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	283					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)	p.G283G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCGGCTGGGCGACAGCAGGC	0.642													C|||	150	0.0299521	0.1067	0.0115	5008	,	,		17465	0		0.001	False		,,,				2504	0					uc002tmn.2																			1	Substitution - coding silent(1)	p.G283G(2)	pancreas(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(847-849)ggC>ggT		Homo sapiens inhibin, beta B (INHBB), mRNA.		C		481,3925	221.0+/-238.3	31,419,1753	55	57	56		849	-9.4	0.4	2	dbSNP_129	56	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	INHBB	NM_002193.2		31,427,6045	TT,TC,CC		0.093,10.9169,3.7598		283/408	121107075	489,12517	2203	4300	6503	SO:0001819	synonymous_variant	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107075C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.849C>T	2.37:g.121107075C>T							p.G283G	NM_002193	NP_002184	P09529	INHBB_HUMAN			1	895	+		Prostate(154;0.122)	283					Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	c.849C>T	CCDS2132.1																																																																																				0.642	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			T	121107075	C	T	121107075	2	4	99	1	0	0	0	0	0	0	0	1	7742	755	27	1		1	INHBB	2	121107075	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	24099589	121107075	122092298	10	6756											
KCNH7	90134	broad.mit.edu	37	chr2	163302846	163302846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaccaacagcaggataagCcagtcccagactgccttgaa	14	6	9	12	0	0	3	0	2	0	1	1	4	1	4	4	1	4	1	4	1	3	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:163302846C>G	ENST00000332142.5	-	7	1335	c.1236G>C	c.(1234-1236)tgG>tgC	p.W412C	KCNH7_ENST00000328032.4_Missense_Mutation_p.W405C	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	412					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCAGGATAAGCCAGTCCCAGA	0.458																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.2																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1234-1236)tgG>tgC		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	Ibutilide(DB00308)						93	88	90					2																	163302846		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302846C>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1236G>C	2.37:g.163302846C>G	ENSP00000331727:p.Trp412Cys					KCNH7_uc002uci.3_Missense_Mutation_p.W405C	p.W412C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1465	-			412					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1236G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947252	0.73672	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97505	-4.41;-4.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.95	D	0.99437	1.0937	10	0.87932	D	0	.	19.4994	0.95086	0.0:1.0:0.0:0.0	.	405;412	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	C	412;405	ENSP00000331727:W412C;ENSP00000333781:W405C	ENSP00000333781:W405C	W	-	3	0	KCNH7	163011092	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.770000	0.85390	2.616000	0.88540	0.650000	0.86243	TGG		0.458	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163302846	C	G	163302846	3	3	99	1	0	0	0	0	1	0	0	0	8037	740	26	5	2460	5	KCNH7	2	163302846	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	42195771	163302846	79896527	11	6757											
XIRP2	129446	broad.mit.edu	37	chr2	168103799	168103799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaacagatattcatcAggttgctgtccagaggaaca	15	8	10	8	0	2	3	2	0	0	3	3	4	3	4	1	2	3	3	1	2	4	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:168103799A>G	ENST00000409195.1	+	9	5986	c.5897A>G	c.(5896-5898)cAg>cGg	p.Q1966R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1966R|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1744R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1791					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATATTCATCAGGTTGCTGTC	0.448																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5896-5898)cAg>cGg		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							43	41	42					2																	168103799		1903	4116	6019	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103799A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5897A>G	2.37:g.168103799A>G	ENSP00000386840:p.Gln1966Arg					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.Q1791R|XIRP2_uc010fpq.3_Missense_Mutation_p.Q1744R|XIRP2_uc010fpr.3_Intron	p.Q1966R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5986	+			1791					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5897A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	2.845	-0.239636	0.05944	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03004	4.08;4.08;4.08	5.2	-1.8	0.07907	.	0.379899	0.29594	N	0.011709	T	0.03053	0.0090	L	0.56769	1.78	0.09310	N	1	B;B;P	0.38078	0.294;0.418;0.617	B;B;B	0.33960	0.084;0.173;0.124	T	0.34750	-0.9816	10	0.48119	T	0.1	0.1029	1.8127	0.03094	0.4682:0.2644:0.1464:0.121	.	1791;1791;1744	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	1966;1966;1744	ENSP00000386840:Q1966R;ENSP00000295237:Q1966R;ENSP00000387255:Q1744R	ENSP00000295237:Q1966R	Q	+	2	0	XIRP2	167812045	0.001000	0.12720	0.009000	0.14445	0.065000	0.16274	1.459000	0.35234	-0.442000	0.07190	0.528000	0.53228	CAG		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168103799	A	G	168103799	3	3	99	1	0	0	0	0	1	0	0	0	17427	188	7	4	5927	4	XIRP2	2	168103799	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	4800953	168103799	75095574	12	6758											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	99	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	41009313	209113112	34086261	13	6759											
KIF9	64147	broad.mit.edu	37	chr3	47284680	47284680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttggaggtggaaacgtAatccaagtccttcccattca	10	11	10	10	1	2	0	1	0	1	0	5	2	5	2	3	4	1	1	3	4	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:47284680A>G	ENST00000265529.3	-	17	2250	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H	KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.Y524H|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Missense_Mutation_p.Y524H|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	524					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGGAAACGTAATCCAAGTCC	0.557																																					Colon(44;962 1147 15977 24541)	uc010hjp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1570-1572)Tac>Cac		Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.							101	80	87					3																	47284680		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47284680A>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1570T>C	3.37:g.47284680A>G	ENSP00000265529:p.Tyr524His					KIF9_uc003cqx.3_Missense_Mutation_p.Y524H|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	p.Y524H	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2174	-		Acute lymphoblastic leukemia(5;0.164)	524					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1570T>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.308830	0.01342	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.42513	0.97;0.97;0.97	4.17	-8.34	0.00988	.	4.635360	0.00649	N	0.000554	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.27316	0.175	B	0.10450	0.005	T	0.10064	-1.0646	10	0.15066	T	0.55	.	6.269	0.20943	0.3599:0.4513:0.0:0.1888	.	524	Q9HAQ2	KIF9_HUMAN	H	524	ENSP00000333942:Y524H;ENSP00000265529:Y524H;ENSP00000391100:Y524H	ENSP00000265529:Y524H	Y	-	1	0	KIF9	47259684	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.141000	0.00586	-2.094000	0.00854	-1.222000	0.01597	TAC		0.557	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			G	47284680	A	G	47284680	3	3	99	1	0	0	0	0	1	0	0	0	8310	362	13	4	826	4	KIF9	3	47284680	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08		47284680	150737750	14	6760											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405101	50405101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactcgggtgatgccacCgtctgtggcagcgaacacgg	9	6	15	11	4	1	2	0	1	1	1	2	4	1	2	2	3	3	1	2	3	2	0			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:50405101C>T	ENST00000479441.1	-	27	2289	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.G757S|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.G764S|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.G757S|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.G688S|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.G757S|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.G757S|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.G764S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	764					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTGATGCCACCGTCTGTGGCA	0.642																																						uc003daq.3																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2290-2292)Ggt>Agt		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	Gabapentin(DB00996)						84	81	82					3																	50405101		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50405101C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2290G>A	3.37:g.50405101C>T	ENSP00000418081:p.Gly764Ser					CACNA2D2_uc003dap.3_Missense_Mutation_p.G757S	p.G764S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	26	2328	-			764					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2290G>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648513	0.67358	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.38	5.38	0.77491	.	0.116985	0.64402	D	0.000020	T	0.82148	0.4974	M	0.75777	2.31	0.54753	D	0.999987	D;D	0.89917	0.979;1.0	P;D	0.71870	0.554;0.975	T	0.78373	-0.2229	10	0.17832	T	0.49	-11.4857	16.9217	0.86166	0.0:1.0:0.0:0.0	.	764;757	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	S	764;757;757;688;764;757;757;764	ENSP00000407393:G764S;ENSP00000404631:G757S;ENSP00000266039:G757S;ENSP00000354228:G688S;ENSP00000390526:G764S;ENSP00000378519:G757S;ENSP00000390329:G757S;ENSP00000418081:G764S	ENSP00000266039:G757S	G	-	1	0	CACNA2D2	50380105	1.000000	0.71417	0.757000	0.31301	0.276000	0.26787	7.446000	0.80609	2.537000	0.85549	0.655000	0.94253	GGT		0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50405101	C	T	50405101	3	4	99	1	0	0	0	0	1	0	0	0	2549	652	23	2	1220	2	CACNA2D2	3	50405101	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	3120421	50405101	147617329	15	6761											
HPS3	84343	broad.mit.edu	37	chr3	148877986	148877986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttttcatcgatcttaGtgacattgaccaaggcagca	10	12	10	9	1	2	2	1	2	1	0	3	3	2	2	1	2	1	3	1	2	2	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:148877986G>C	ENST00000296051.2	+	11	2166	c.2026G>C	c.(2026-2028)Gtg>Ctg	p.V676L	HPS3_ENST00000460120.1_Missense_Mutation_p.V511L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	676					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATCGATCTTAGTGACATTGAC	0.438									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2026-2028)Gtg>Ctg		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							108	110	109					3																	148877986		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148877986G>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2026G>C	3.37:g.148877986G>C	ENSP00000296051:p.Val676Leu					HPS3_uc011bnq.1_Missense_Mutation_p.V511L|HPS3_uc003ewv.1_Non-coding_Transcript	p.V676L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	2166	+			676					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2026G>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455902	0.01071	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.62232	0.04;0.04	5.41	1.54	0.23209	.	0.353809	0.28952	N	0.013609	T	0.35653	0.0939	N	0.19112	0.55	0.25930	N	0.983003	B;B	0.12013	0.004;0.005	B;B	0.14023	0.01;0.01	T	0.27739	-1.0065	10	0.02654	T	1	-5.332	6.0215	0.19632	0.0636:0.1167:0.4962:0.3235	.	511;676	G5E9V4;Q969F9	.;HPS3_HUMAN	L	676;511	ENSP00000296051:V676L;ENSP00000418230:V511L	ENSP00000296051:V676L	V	+	1	0	HPS3	150360676	0.994000	0.37717	0.914000	0.36105	0.387000	0.30353	0.771000	0.26633	0.065000	0.16485	-1.364000	0.01208	GTG		0.438	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		C	148877986	G	C	148877986	3	2	99	1	0	0	0	0	1	0	0	0	7340	1029	36	5	2068	5	HPS3	3	148877986	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	98472885	148877986	49144444	16	6762											
IL7R	3575	broad.mit.edu	37	chr5	35871249	35871249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacatcacacttgcaaaaGaagtatgtaaaagttttaat	19	12	5	5	0	1	1	1	0	0	1	1	1	1	1	0	0	2	4	0	0	9	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:35871249G>C	ENST00000303115.3	+	4	600	c.471G>C	c.(469-471)aaG>aaC	p.K157N	IL7R_ENST00000343305.4_Missense_Mutation_p.K157N|IL7R_ENST00000506850.1_Missense_Mutation_p.K157N	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	157	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTGCAAAAGAAGTATGTAA	0.378			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(469-471)aaG>aaC		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							78	75	76					5																	35871249		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871249G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.471G>C	5.37:g.35871249G>C	ENSP00000306157:p.Lys157Asn					IL7R_uc011coo.2_Missense_Mutation_p.K157N|IL7R_uc011cop.2_Non-coding_Transcript	p.K157N	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		3	560	+	all_lung(31;0.00015)		157			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.471G>C	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683875	0.68157	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	D;T;T	0.95949	-3.86;-0.99;-0.99	5.56	3.7	0.42460	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.270973	0.37178	N	0.002220	D	0.95367	0.8496	L	0.54323	1.7	0.39303	D	0.964937	D;D	0.76494	0.989;0.999	P;P	0.62740	0.791;0.906	D	0.93707	0.7020	10	0.33141	T	0.24	-26.7427	7.1415	0.25558	0.0879:0.0:0.7439:0.1682	.	157;157	D6RGV2;P16871	.;IL7RA_HUMAN	N	157	ENSP00000306157:K157N;ENSP00000345819:K157N;ENSP00000421207:K157N	ENSP00000306157:K157N	K	+	3	2	IL7R	35907006	0.996000	0.38824	0.858000	0.33744	0.976000	0.68499	1.930000	0.40124	1.341000	0.45600	0.655000	0.94253	AAG		0.378	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			C	35871249	G	C	35871249	3	2	99	1	0	0	0	0	1	0	0	0	7705	933	33	5	485	5	IL7R	5	35871249	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		35871249	145044011	17	6763											
PLCXD3	345557	broad.mit.edu	37	chr5	41382006	41382006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtcagcaccacctgaGatataaaaaacgatcccttc	13	8	9	11	1	1	1	1	1	0	1	3	3	2	1	3	2	2	1	3	2	4	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:41382006G>T	ENST00000377801.3	-	2	808	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S245Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	245					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACCACCTGAGATATAAAAAA	0.483																																						uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(733-735)tCt>tAt		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							82	87	85					5																	41382006		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382006G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.734C>A	5.37:g.41382006G>T	ENSP00000367032:p.Ser245Tyr						p.S245Y	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	836	-			245					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.734C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447251	0.84101	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.77616	2.38	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.70590	-0.4830	9	0.05721	T	0.95	-15.5809	20.6593	0.99626	0.0:0.0:1.0:0.0	.	245	Q63HM9	PLCX3_HUMAN	Y	245	.	ENSP00000333751:S245Y	S	-	2	0	PLCXD3	41417763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	2.885000	0.99019	0.655000	0.94253	TCT		0.483	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		T	41382006	G	T	41382006	3	4	99	1	0	0	0	0	1	0	0	0	12043	942	33	5	239	5	PLCXD3	5	41382006	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	5510757	41382006	139533254	18	6764											
IL17B	27190	broad.mit.edu	37	chr5	148754111	148754111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcacacagcccagacacaGgcaccgtgcctccggcaggt	9	5	11	16	2	1	1	1	0	0	1	2	1	2	1	4	3	2	3	4	3	0	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:148754111G>A	ENST00000261796.3	-	3	414	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	122					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACACAGGCACCGTGCC	0.647																																						uc003lqo.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(364-366)Ctg>Ttg		Homo sapiens interleukin 17B (IL17B), mRNA.							35	35	35					5																	148754111		2203	4299	6502	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148754111G>A	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"Interleukins and interleukin receptors"	5982	protein-coding gene	gene with protein product	"neuronal interleukin-17-related factor"	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.364C>T	5.37:g.148754111G>A							p.L122L	NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	414	-			122					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.364C>T	CCDS4297.1																																																																																				0.647	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		A	148754111	G	A	148754111	2	1	99	1	0	0	0	0	0	0	0	1	7635	991	35	3		3	IL17B	5	148754111	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	107372105	148754111	32161149	19	6765											
EHMT2	10919	broad.mit.edu	37	chr6	31847948	31847948	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggctctgctccagggcAatggcttcggctgagtgctt	6	10	14	11	2	1	2	0	1	1	1	3	2	2	2	1	4	2	6	1	4	1	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:31847948A>T	ENST00000375537.4	-	28	3552	c.3546T>A	c.(3544-3546)atT>atA	p.I1182I	EHMT2_ENST00000375530.4_Silent_p.I1148I|EHMT2_ENST00000395728.3_Silent_p.I1239I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.I1205I|SLC44A4_ENST00000465707.1_5'Flank|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1182					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCTCCAGGGCAATGGCTTCGG	0.592																																						uc003nxz.1																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3544-3546)atT>atA		Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.							60	54	56					6																	31847948		1511	2708	4219	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847948A>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3546T>A	6.37:g.31847948A>T						EHMT2_uc003nxx.1_Silent_p.I380I|EHMT2_uc003nxy.1_Silent_p.I980I|EHMT2_uc011don.1_Silent_p.I1205I|EHMT2_uc003nya.1_Silent_p.I1148I|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	p.I1182I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			27	3556	-			1182					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3546T>A	CCDS4725.1																																																																																				0.592	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		T	31847948	A	T	31847948	2	4	99	1	0	0	0	0	0	0	0	1	4984	126	5	5		5	EHMT2	6	31847948	Silent	SNP	A	TCGA-06-6389-01A-11D-1696-08		31847948	139267119	20	6766											
AMD1	262	broad.mit.edu	37	chr6	111214026	111214026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgatgaatggaatgaaatCggatgtgagtagttatatat	14	14	11	2	2	0	3	0	3	0	0	2	6	0	5	0	2	0	2	0	2	7	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:111214026C>T	ENST00000368885.3	+	7	1040	c.704C>T	c.(703-705)tCg>tTg	p.S235L	AMD1_ENST00000368877.5_Missense_Mutation_p.S206L|AMD1_ENST00000368876.1_Missense_Mutation_p.S166L|AMD1_ENST00000368882.3_Missense_Mutation_p.S87L|AMD1_ENST00000451850.2_Missense_Mutation_p.S115L	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	235					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGAATGAAATCGGATGTGAGT	0.388																																						uc003puk.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(703-705)tCg>tTg		Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	S-Adenosylmethionine(DB00118)						78	78	78					6																	111214026		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111214026C>T	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.704C>T	6.37:g.111214026C>T	ENSP00000357880:p.Ser235Leu					AMD1_uc011eay.1_Missense_Mutation_p.S166L|AMD1_uc003pul.1_Missense_Mutation_p.S87L|AMD1_uc011eaz.1_Missense_Mutation_p.S206L|AMD1_uc011eba.1_Missense_Mutation_p.S115L	p.S235L	NM_001634	NP_001028231	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	6	1026	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	235					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.704C>T	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972495	0.34848	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.13	4.26	0.50523	S-adenosylmethionine decarboxylase, core (2);	0.180968	0.49305	N	0.000146	T	0.53384	0.1793	M	0.71206	2.165	0.54753	D	0.999985	B;B;B	0.15930	0.015;0.005;0.009	B;B;B	0.17098	0.017;0.002;0.007	T	0.60566	-0.7238	9	0.62326	D	0.03	.	13.8116	0.63266	0.0:0.9255:0.0:0.0745	.	115;206;235	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	L	235;87;115;206;166	.	ENSP00000357870:S166L	S	+	2	0	AMD1	111320719	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	5.656000	0.67988	1.298000	0.44778	-0.225000	0.12378	TCG		0.388	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			T	111214026	C	T	111214026	3	4	99	1	0	0	0	0	1	0	0	0	566	893	31	2	730	2	AMD1	6	111214026	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	79366078	111214026	59901041	21	6767											
RNF148	378925	broad.mit.edu	37	chr7	122342705	122342705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccaaatggcttttcCgtttgagtcaggaaagctaa	11	12	10	8	1	1	1	1	1	0	0	3	2	3	2	2	2	2	4	2	2	3	4	rs370211791		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr7:122342705C>T	ENST00000434824.1	-	1	316	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.G34R|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	34						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGGCTTTTCCGTTTGAGTCA	0.423																																						uc003vkk.1																			0		p.N33N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(100-102)Gga>Aga		Homo sapiens ring finger protein 148 (RNF148), mRNA.							71	62	65					7																	122342705		1874	4107	5981	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342705C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.100G>A	7.37:g.122342705C>T	ENSP00000388207:p.Gly34Arg					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.G34R	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			0	317	-			34					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.100G>A	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780172	0.31502	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.51	0.55191	.	.	.	.	.	T	0.16938	0.0407	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.80764	0.994;0.836	T	0.00322	-1.1818	9	0.52906	T	0.07	.	13.3279	0.60469	0.0:0.9212:0.0:0.0788	.	34;34	C9JVJ0;Q8N7C7	.;RN148_HUMAN	R	34	ENSP00000388207:G34R	ENSP00000388207:G34R	G	-	1	0	RNF148	122129941	0.826000	0.29277	0.991000	0.47740	0.538000	0.34931	1.320000	0.33666	1.250000	0.43966	0.555000	0.69702	GGA		0.423	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		T	122342705	C	T	122342705	3	4	99	1	0	0	0	0	1	0	0	0	13449	661	23	2	821	2	RNF148	7	122342705	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		122342705	36795958	22	6768											
TEX15	56154	broad.mit.edu	37	chr8	30705338	30705338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgttataagatgaaataActgtatcaatgaacatttct	16	15	5	5	0	2	3	1	2	1	1	2	3	2	3	0	0	2	2	0	0	8	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:30705338A>T	ENST00000256246.2	-	1	1270	c.1196T>A	c.(1195-1197)gTt>gAt	p.V399D	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	399					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGAAATAACTGTATCAAT	0.333																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1195-1197)gTt>gAt		Homo sapiens testis expressed 15 (TEX15), mRNA.							112	114	113					8																	30705338		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30705338A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1196T>A	8.37:g.30705338A>T	ENSP00000256246:p.Val399Asp						p.V399D	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	1196	-			399						Missense_Mutation	SNP	ENST00000256246.2	37	c.1196T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905343	0.33628	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.38	4.2	0.49525	.	0.539313	0.16509	N	0.211337	T	0.21468	0.0517	L	0.32530	0.975	0.18873	N	0.999988	D	0.65815	0.995	D	0.66497	0.944	T	0.06770	-1.0808	10	0.87932	D	0	.	5.9781	0.19391	0.748:0.1671:0.0849:0.0	.	399	Q9BXT5	TEX15_HUMAN	D	399	ENSP00000256246:V399D	ENSP00000256246:V399D	V	-	2	0	TEX15	30824880	0.000000	0.05858	0.006000	0.13384	0.328000	0.28507	0.487000	0.22356	0.952000	0.37798	0.528000	0.53228	GTT		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30705338	A	T	30705338	3	4	99	1	0	0	0	0	1	0	0	0	15776	43	2	5	7189	5	TEX15	8	30705338	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08		30705338	115658684	23	6769											
SYBU	55638	broad.mit.edu	37	chr8	110587269	110587269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatgcccacagaaccgtggGgaccacgggggcagccacag	11	2	15	13	2	0	1	0	0	0	1	0	3	0	2	4	4	3	1	4	4	2	0			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:110587269G>A	ENST00000422135.1	-	8	2373	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	SYBU_ENST00000399066.3_Missense_Mutation_p.P617S|SYBU_ENST00000528647.1_Missense_Mutation_p.P619S|SYBU_ENST00000529175.1_Missense_Mutation_p.P414S|SYBU_ENST00000433638.1_Missense_Mutation_p.P620S|SYBU_ENST00000408889.3_Missense_Mutation_p.P501S|SYBU_ENST00000440310.1_Missense_Mutation_p.P620S|SYBU_ENST00000446070.2_Missense_Mutation_p.P619S|SYBU_ENST00000528331.1_Missense_Mutation_p.P501S|SYBU_ENST00000424158.2_Missense_Mutation_p.P625S|SYBU_ENST00000419099.1_Missense_Mutation_p.P619S|SYBU_ENST00000532779.1_Missense_Mutation_p.P552S|SYBU_ENST00000529690.1_Missense_Mutation_p.P490S|SYBU_ENST00000533171.1_Missense_Mutation_p.P620S|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000276646.9_Missense_Mutation_p.P620S|SYBU_ENST00000408908.2_Missense_Mutation_p.P620S|SYBU_ENST00000533895.1_Missense_Mutation_p.P619S|SYBU_ENST00000533065.1_Missense_Mutation_p.P501S	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	620					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGAACCGTGGGGACCACGGGG	0.622																																						uc010mcp.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1858-1860)Ccc>Tcc		Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.							49	61	57					8																	110587269		2039	4169	6208	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587269G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1858C>T	8.37:g.110587269G>A	ENSP00000407118:p.Pro620Ser					SYBU_uc003yni.4_Missense_Mutation_p.P617S|SYBU_uc003ynk.4_Missense_Mutation_p.P501S|SYBU_uc003ynj.4_Missense_Mutation_p.P620S|SYBU_uc010mco.3_Missense_Mutation_p.P619S|SYBU_uc003ynl.4_Missense_Mutation_p.P619S|SYBU_uc010mcq.3_Missense_Mutation_p.P620S|SYBU_uc003yno.4_Missense_Mutation_p.P501S|SYBU_uc010mcr.3_Missense_Mutation_p.P620S|SYBU_uc003ynm.4_Missense_Mutation_p.P619S|SYBU_uc003ynn.4_Missense_Mutation_p.P619S|SYBU_uc010mcs.3_Missense_Mutation_p.P501S|SYBU_uc010mct.3_Missense_Mutation_p.P620S|SYBU_uc010mcu.3_Missense_Mutation_p.P619S|SYBU_uc003ynp.4_Missense_Mutation_p.P552S|SYBU_uc010mcv.3_Missense_Mutation_p.P620S|SYBU_uc003ynh.4_Missense_Mutation_p.P414S|SYBU_uc011lhw.2_Missense_Mutation_p.P490S	p.P620S	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN			7	2220	-			620					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1858C>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705095	0.88924	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.97	5.97	0.96955	.	0.049608	0.85682	D	0.000000	D	0.83741	0.5320	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	D	0.84699	0.0727	9	0.87932	D	0	-23.4398	19.4161	0.94700	0.0:0.0:1.0:0.0	.	490;552;619;620;617	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	S	619;625;552;617;619;501;414;620;619;620;619;620;620;620;501;501;490;620	.	ENSP00000276646:P620S	P	-	1	0	SYBU	110656445	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.771000	0.98977	2.837000	0.97791	0.655000	0.94253	CCC		0.622	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		A	110587269	G	A	110587269	3	1	99	1	0	0	0	0	1	0	0	0	15424	1232	43	3	137	3	SYBU	8	110587269	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	79881931	110587269	35776753	24	6770											
HAS2	3037	broad.mit.edu	37	chr8	122641322	122641322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgataggcagcgatgcaaaGggcaactgttttgttcaact	11	12	11	7	1	1	1	1	1	0	0	1	2	1	1	0	2	4	5	0	2	4	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:122641322G>A	ENST00000303924.4	-	2	796	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	87					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCGATGCAAAGGGCAACTGTT	0.423																																						uc003yph.2																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(259-261)Ctt>Ttt		Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.							306	305	306					8																	122641322		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641322G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.259C>T	8.37:g.122641322G>A	ENSP00000306991:p.Leu87Phe						p.L87F	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	797	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		87					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.259C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531469	0.45073	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.60040	0.22	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.63843	1.955	0.80722	D	1	P	0.37525	0.598	B	0.37888	0.26	T	0.61367	-0.7077	10	0.52906	T	0.07	-19.3481	20.8794	0.99867	0.0:0.0:1.0:0.0	.	87	Q92819	HAS2_HUMAN	F	87	ENSP00000306991:L87F	ENSP00000306991:L87F	L	-	1	0	HAS2	122710503	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	5.608000	0.67654	2.941000	0.99782	0.655000	0.94253	CTT		0.423	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		A	122641322	G	A	122641322	3	1	99	1	0	0	0	0	1	0	0	0	6962	1000	35	3	1411	3	HAS2	8	122641322	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	12054053	122641322	23722700	25	6771											
C9orf152	401546	broad.mit.edu	37	chr9	112963591	112963591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaatgcatctccaggtgCgtgtgccatggagacttggg	10	9	13	9	1	1	1	0	0	1	1	2	2	1	1	2	3	4	1	2	3	2	1	rs376699609		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587																																						uc011lwk.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(355-357)acG>acA		Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.							95	87	90					9																	112963591		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963591C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.357G>A	9.37:g.112963591C>T						C9orf152_uc022blq.1_5'Flank	p.T119T	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN			1	911	-			119					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.357G>A	CCDS35102.2																																																																																				0.587	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		T	112963591	C	T	112963591	2	4	99	1	0	0	0	0	0	0	0	1	2463	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08		112963591	28249840	26	6772											
FCN1	2219	broad.mit.edu	37	chr9	137801822	137801822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacttctcagcacaattcGaagaactcacatcattgtct	13	11	6	11	1	4	1	3	0	2	1	6	3	4	2	0	1	3	1	0	1	4	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:137801822G>A	ENST00000371806.3	-	9	894	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	268	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGCACAATTCGAAGAACTCAC	0.488																																						uc004cfi.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(802-804)tCg>tTg		Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.							204	205	205					9																	137801822		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801822G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.803C>T	9.37:g.137801822G>A	ENSP00000360871:p.Ser268Leu						p.S268L	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	892	-		Myeloproliferative disorder(178;0.0333)	268			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.803C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	g	9.335	1.061451	0.19987	.	.	ENSG00000085265	ENST00000371806	T	0.76709	-1.04	3.2	-3.73	0.04398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.63271	0.2497	L	0.52364	1.645	0.09310	N	1	P	0.47409	0.895	B	0.39119	0.291	T	0.56980	-0.7889	9	0.52906	T	0.07	.	2.781	0.05361	0.1041:0.4155:0.2008:0.2796	.	268	O00602	FCN1_HUMAN	L	268	ENSP00000360871:S268L	ENSP00000360871:S268L	S	-	2	0	FCN1	136941643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.916000	0.01576	-0.505000	0.06568	-0.131000	0.14894	TCG		0.488	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		A	137801822	G	A	137801822	3	1	99	1	0	0	0	0	1	0	0	0	5791	1059	37	2	181	2	FCN1	9	137801822	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	24838231	137801822	3411609	27	6773											
CDH23	64072	broad.mit.edu	37	chr10	73544851	73544851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggccttcttcatcaaTgccacggtagggcctagact	8	9	12	12	2	3	1	2	0	1	1	3	2	3	1	3	3	2	1	3	3	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:73544851T>C	ENST00000224721.6	+	42	5726	c.5721T>C	c.(5719-5721)aaT>aaC	p.N1907N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1902	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTTCATCAATGCCACGGTAG	0.597																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5695-5697)aaT>aaC		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							51	52	52					10																	73544851		2032	4177	6209	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544851T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5721T>C	10.37:g.73544851T>C							p.N1899N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			40	6087	+			1902			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5697T>C																																																																																					0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		C	73544851	T	C	73544851	2	2	99	1	0	0	0	0	0	0	0	1	3108	1461	51	4		4	CDH23	10	73544851	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		73544851	61989896	28	6774											
RGR	5995	broad.mit.edu	37	chr10	86017694	86017694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgctgctcggctggggcCcctatgccatcctgtatcta	4	11	11	15	2	1	0	0	0	1	0	3	0	2	0	4	3	3	5	4	3	3	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:86017694C>T	ENST00000359452.4	+	6	726	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	226					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGGCTGGGGCCCCTATGCCAT	0.542																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdd.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(688-690)Ccc>Tcc		Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.							88	79	82					10																	86017694		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86017694C>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.688C>T	10.37:g.86017694C>T	ENSP00000352427:p.Pro230Ser					RGR_uc001kdc.1_Missense_Mutation_p.P226S|RGR_uc001kde.1_Intron	p.P230S	NM_002921	NP_002912	P47804	RGR_HUMAN			5	726	+			226					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.688C>T	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739445	0.89573	.	.	ENSG00000148604	ENST00000359452	T	0.80304	-1.36	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91723	0.7383	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.93582	0.6913	10	0.87932	D	0	.	17.172	0.86832	0.0:1.0:0.0:0.0	.	230;226	P47804-2;P47804	.;RGR_HUMAN	S	230	ENSP00000352427:P230S	ENSP00000352427:P230S	P	+	1	0	RGR	86007674	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.960000	0.76036	2.505000	0.84491	0.655000	0.94253	CCC		0.542	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		T	86017694	C	T	86017694	3	4	99	1	0	0	0	0	1	0	0	0	13291	623	22	3	710	3	RGR	10	86017694	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	12472843	86017694	49517053	29	6775											
ABCC9	10060	broad.mit.edu	37	chr12	21968799	21968799	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatctccccttcttgTggccaatgttctggaacttg	6	16	8	11	0	4	1	0	1	4	0	5	2	4	2	3	2	1	1	3	2	2	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr12:21968799T>G	ENST00000261201.4	-	32	3920	c.3921A>C	c.(3919-3921)ccA>ccC	p.P1307P	ABCC9_ENST00000345162.2_Silent_p.P1271P|ABCC9_ENST00000261200.4_Silent_p.P1307P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1307					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCCCTTCTTGTGGCCAATGTT	0.393																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3919-3921)ccA>ccC		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						138	123	128					12																	21968799		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968799T>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3921A>C	12.37:g.21968799T>G						ABCC9_uc001rfi.1_Silent_p.P1307P	p.P1307P	NM_020297	NP_064693	O60706	ABCC9_HUMAN			31	3941	-			1307					O60707	Silent	SNP	ENST00000261201.4	37	c.3921A>C	CCDS8694.1																																																																																				0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		G	21968799	T	G	21968799	2	3	99	1	0	0	0	0	0	0	0	1	59	1683	59	5		5	ABCC9	12	21968799	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		21968799	111883096	30	6776											
CYP1A2	1544	broad.mit.edu	37	chr15	75042134	75042134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttctcctggcctctGccatcttctgcctggtattc	4	14	8	15	0	4	1	0	0	4	1	6	1	4	1	4	2	3	2	4	2	1	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr15:75042134G>A	ENST00000343932.4	+	2	118	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	19					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CCTGGCCTCTGCCATCTTCTG	0.587																																						uc002ayr.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(55-57)Gcc>Acc		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						201	192	195					15																	75042134		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042134G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.55G>A	15.37:g.75042134G>A	ENSP00000342007:p.Ala19Thr						p.A19T	NM_000761	NP_000752	P05177	CP1A2_HUMAN			1	119	+			19					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.55G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.043987	0.08196	.	.	ENSG00000140505	ENST00000343932	T	0.71341	-0.56	5.11	-2.49	0.06403	.	0.449294	0.27686	N	0.018267	T	0.40473	0.1118	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.19614	-1.0300	10	0.20519	T	0.43	.	5.9399	0.19187	0.473:0.0:0.4056:0.1214	.	19	P05177-2	.	T	19	ENSP00000342007:A19T	ENSP00000342007:A19T	A	+	1	0	CYP1A2	72829187	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	0.077000	0.14738	-0.723000	0.04915	-0.137000	0.14449	GCC		0.587	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042134	G	A	75042134	3	1	99	1	0	0	0	0	1	0	0	0	4150	1319	46	3	57	3	CYP1A2	15	75042134	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		75042134	27489258	31	6777											
DNAH3	55567	broad.mit.edu	37	chr16	21080790	21080790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgccaaatttcctcccCtcttctggcatctgggctat	8	13	6	14	0	3	0	0	0	3	0	5	0	5	0	4	2	1	2	4	2	3	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:21080790C>T	ENST00000261383.3	-	23	3326	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E	DNAH3_ENST00000415178.1_Silent_p.E1109E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1109	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTCCTCCCCTCTTCTGGCA	0.428																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3325-3327)gaG>gaA		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							178	156	163					16																	21080790		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080790C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3327G>A	16.37:g.21080790C>T							p.E1109E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3327	-			1109			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3327G>A	CCDS10594.1																																																																																				0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21080790	C	T	21080790	2	4	99	1	0	0	0	0	0	0	0	1	4603	680	24	3		3	DNAH3	16	21080790	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08		21080790	69273963	32	6778											
HYDIN	54768	broad.mit.edu	37	chr16	70977832	70977832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcggtggatgggccccggGgggagagggctggaggaaat	8	4	22	7	2	0	1	0	0	0	1	0	5	0	4	2	9	1	1	2	9	1	0	rs368359335		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:70977832G>A	ENST00000393567.2	-	42	6702	c.6552C>T	c.(6550-6552)ccC>ccT	p.P2184P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2184					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGCCCCGGGGGGAGAGGGC	0.582																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(6547-6549)ccC>ccT		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.		C		0,3918		0,0,1959	29	31	30		6549	-6.6	0	16		30	1,8311		0,1,4155	no	coding-synonymous	HYDIN	NM_032821.2		0,1,6114	AA,AG,GG		0.012,0.0,0.0082		2183/5121	70977832	1,12229	1959	4156	6115	SO:0001819	synonymous_variant	54768							g.chr16:70977832G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6552C>T	16.37:g.70977832G>A							p.P2183P	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			41	6700	-		Ovarian(137;0.0654)	2184					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.6549C>T	CCDS59269.1																																																																																				0.582	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70977832	G	A	70977832	2	1	99	1	0	0	0	0	0	0	0	1	7467	1219	43	3		3	HYDIN	16	70977832	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	49897042	70977832	19376921	33	6779											
C16orf3	2622	broad.mit.edu	37	chr16	90095609	90095609	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctatggggcagcctaCggggcaggctacggggcagg	7	4	20	10	2	0	0	0	0	0	0	0	0	0	0	1	9	3	6	1	9	3	3	rs76322535		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:90095609C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.V48I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcagcctacggggcaggct	0.672																																						uc002fqk.1																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(142-144)Gta>Ata		Homo sapiens chromosome 16 open reading frame 3 (C16orf3), mRNA.							22	25	24					16																	90095609		2197	4299	6496	SO:0001627	intron_variant	750							g.chr16:90095609C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1479C>T	16.37:g.90095609C>T						GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	p.V48I	NM_001214	NP_001205	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	0	701	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	48		Missing (in short isoform).			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.142G>A	CCDS10992.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	N	0.178	-1.064676	0.01934	.	.	ENSG00000221819	ENST00000408886	T	0.55052	0.54	0.668	-1.34	0.09143	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.05500	-1.0881	7	.	.	.	.	.	.	.	.	56	O95177	CP003_HUMAN	I	48	ENSP00000386218:V48I	.	V	-	1	0	C16orf3	88623110	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.485000	0.00979	-3.256000	0.00203	-2.337000	0.00247	GTA		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90095609	C	T	90095609	1	4	99	0	1	0	0	0	0	0	0	0	1812	536	19	1		1	C16orf3	16	90095609	Intron	SNP	C	TCGA-06-6389-01A-11D-1696-08	19117777	90095609	259144	34	6780											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	p.Y220C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	99	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08		7578190	73617020	35	6781											
MFSD6L	162387	broad.mit.edu	37	chr17	8700984	8700984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagagccctctccatgcgGggagtggccaggtcctctac	6	8	12	15	1	3	1	1	0	2	1	5	2	4	2	4	4	3	0	4	4	1	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:8700984G>A	ENST00000329805.4	-	1	1683	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	485						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTCCATGCGGGGAGTGGCCA	0.607																																						uc002glp.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(1453-1455)ccC>ccT		Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.							40	41	41					17																	8700984		2203	4300	6503	SO:0001819	synonymous_variant	162387					integral to membrane		g.chr17:8700984G>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1455C>T	17.37:g.8700984G>A							p.P485P	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			0	1684	-			485					Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	c.1455C>T	CCDS11146.1																																																																																				0.607	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		A	8700984	G	A	8700984	2	1	99	1	0	0	0	0	0	0	0	1	9536	1219	43	3		3	MFSD6L	17	8700984	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	1122794	8700984	72494226	36	6782											
PAK4	10298	broad.mit.edu	37	chr19	39663979	39663979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctttaacacctaccCgagggctgacacggaccacc	9	5	9	18	3	0	1	0	1	0	0	0	3	0	2	6	3	2	1	6	3	2	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr19:39663979C>T	ENST00000593690.1	+	5	1053	c.626C>T	c.(625-627)cCg>cTg	p.P209L	PAK4_ENST00000358301.3_Missense_Mutation_p.P209L|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000435673.2_Missense_Mutation_p.P209L|PAK4_ENST00000360442.3_Missense_Mutation_p.P209L|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000321944.4_Intron	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	209	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AACACCTACCCGAGGGCTGAC	0.701																																						uc002okj.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(625-627)cCg>cTg		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.							9	11	10					19																	39663979		2154	4202	6356	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39663979C>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.626C>T	19.37:g.39663979C>T	ENSP00000469413:p.Pro209Leu					PAK4_uc002okl.1_Missense_Mutation_p.P209L|PAK4_uc002okn.1_Missense_Mutation_p.P209L|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron	p.P209L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	1087	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		209			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.626C>T	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494740	0.64186	.	.	ENSG00000130669	ENST00000358301;ENST00000358801;ENST00000435673;ENST00000360442	T;T;T	0.73047	-0.71;-0.71;-0.71	4.23	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	L	0.61218	1.895	0.58432	D	0.999999	D	0.69078	0.997	P	0.48334	0.574	T	0.72054	-0.4406	10	0.49607	T	0.09	.	11.6066	0.51035	0.0:0.818:0.182:0.0	.	209	O96013	PAK4_HUMAN	L	209;13;209;209	ENSP00000351049:P209L;ENSP00000392753:P209L;ENSP00000353625:P209L	ENSP00000351049:P209L	P	+	2	0	PAK4	44355819	1.000000	0.71417	0.959000	0.39883	0.976000	0.68499	5.601000	0.67606	0.965000	0.38133	0.561000	0.74099	CCG		0.701	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			T	39663979	C	T	39663979	3	4	99	1	0	0	0	0	1	0	0	0	11403	652	23	2	632	2	PAK4	19	39663979	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		39663979	19465004	37	6783											
SIRPB1	10326	broad.mit.edu	37	chr20	1600539	1600539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctccccagcagtagcgTcatcagcaggaaaggactag	12	6	12	11	1	3	0	2	0	1	0	4	3	3	2	2	2	3	3	2	2	3	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:1600539T>A	ENST00000381605.4	-	1	116	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T18S|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T18S|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.T18S|SIRPB1_ENST00000381603.3_Missense_Mutation_p.T18S	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	18					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCAGTAGCGTCATCAGCAGG	0.567																																						uc010gai.3																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(52-54)Acg>Tcg		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							98	87	91					20																	1600539		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600539T>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.52A>T	20.37:g.1600539T>A	ENSP00000371018:p.Thr18Ser					SIRPB1_uc002wfk.4_Missense_Mutation_p.T18S|SIRPB1_uc002wfl.4_Missense_Mutation_p.T18S	p.T18S	NM_006065	NP_006056	O00241	SIRB1_HUMAN			0	151	-			18					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.52A>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.479	-0.880575	0.02530	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.11604	4.29;4.66;2.76	1.85	-3.69	0.04450	Immunoglobulin-like (2);	1.124470	0.06983	U	0.820185	T	0.07863	0.0197	L	0.52364	1.645	0.09310	N	1	B;B;B	0.20550	0.01;0.003;0.046	B;B;B	0.17722	0.013;0.005;0.019	T	0.41288	-0.9517	10	0.23891	T	0.37	.	0.4519	0.00502	0.2049:0.3093:0.2075:0.2783	.	18;18;18	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	S	18	ENSP00000371018:T18S;ENSP00000371016:T18S;ENSP00000279477:T18S	ENSP00000279477:T18S	T	-	1	0	SIRPB1	1548539	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	-0.578000	0.05841	-1.369000	0.02147	-0.526000	0.04340	ACG		0.567	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1600539	T	A	1600539	3	1	99	1	0	0	0	0	1	0	0	0	14333	1667	58	5	2301	5	SIRPB1	20	1600539	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08		1600539	61424981	38	6784											
PLAGL2	5326	broad.mit.edu	37	chr20	30785118	30785118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcctgtgtgcaccactaGgtgccgccgtacatccttac	7	9	10	15	3	0	0	0	0	0	0	1	0	1	0	5	2	4	2	5	2	3	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:30785118G>C	ENST00000246229.4	-	3	892	c.628C>G	c.(628-630)Cta>Gta	p.L210V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	210					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCACCACTAGGTGCCGCCGT	0.612																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(628-630)Cta>Gta		Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.							39	28	32					20																	30785118		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785118G>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.628C>G	20.37:g.30785118G>C	ENSP00000246229:p.Leu210Val						p.L210V	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	845	-			210					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.628C>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260786	0.39995	.	.	ENSG00000126003	ENST00000246229	T	0.61040	0.14	5.24	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.058466	0.64402	D	0.000002	T	0.39989	0.1099	N	0.11845	0.185	0.41460	D	0.988038	P	0.42692	0.787	B	0.44108	0.441	T	0.33497	-0.9866	10	0.45353	T	0.12	.	7.0912	0.25285	0.1463:0.0:0.7146:0.1391	.	210	Q9UPG8	PLAL2_HUMAN	V	210	ENSP00000246229:L210V	ENSP00000246229:L210V	L	-	1	2	PLAGL2	30248779	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	1.484000	0.35508	1.460000	0.47911	0.555000	0.69702	CTA		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		C	30785118	G	C	30785118	3	2	99	1	0	0	0	0	1	0	0	0	12020	991	35	5	866	5	PLAGL2	20	30785118	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	29184579	30785118	32240402	39	6785											
PPDPF	79144	broad.mit.edu	37	chr20	62153045	62153045	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaggctgacccgggtcAttggtgggccagcttctttt	5	11	12	13	1	2	1	1	1	1	0	2	1	2	1	4	4	1	2	4	4	1	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:62153045A>C	ENST00000370179.3	+	4	354	c.158A>C	c.(157-159)cAt>cCt	p.H53P	PPDPF_ENST00000370177.1_Missense_Mutation_p.H79P|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	53					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						GACCCGGGTCATTGGTGGGCC	0.637																																						uc002yff.3																			0				kidney(1)|lung(2)|ovary(1)	4						c.(157-159)cAt>cCt		Homo sapiens pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) (PPDPF), mRNA.							69	70	69					20																	62153045		2203	4300	6503	SO:0001583	missense	79144				cell differentiation|multicellular organismal development			g.chr20:62153045A>C	AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"exocrine differentiation and proliferation factor"		"chromosome 20 open reading frame 149", "pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	ENST00000370179.3:c.158A>C	20.37:g.62153045A>C	ENSP00000359198:p.His53Pro						p.H53P	NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN			3	298	+			53					E1P5J2|Q4VXP1|Q9H3Y7	Missense_Mutation	SNP	ENST00000370179.3	37	c.158A>C	CCDS13523.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.771939	0.49680	.	.	ENSG00000125534	ENST00000370179;ENST00000370178;ENST00000370177	.	.	.	4.62	3.51	0.40186	.	0.213251	0.47852	N	0.000201	T	0.56016	0.1957	M	0.82056	2.57	0.53688	D	0.999976	P	0.38078	0.617	B	0.32677	0.15	T	0.60078	-0.7333	9	0.87932	D	0	-22.2245	11.0627	0.47957	0.8439:0.1561:0.0:0.0	.	53	Q9H3Y8	PPDPF_HUMAN	P	53;53;79	.	ENSP00000359196:H79P	H	+	2	0	PPDPF	61623489	1.000000	0.71417	0.942000	0.38095	0.623000	0.37688	6.574000	0.74014	0.609000	0.30018	0.528000	0.53228	CAT		0.637	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1			C	62153045	A	C	62153045	3	2	99	1	0	0	0	0	1	0	0	0	12306	217	8	5	168	5	PPDPF	20	62153045	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	31367927	62153045	872475	40	6786											
C21orf91	54149	broad.mit.edu	37	chr21	19169182	19169182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggagtaatttttcttcTggcttatgcctgaaattaaa	10	17	9	5	0	2	1	0	1	2	0	2	2	2	2	1	2	1	2	1	2	5	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:19169182T>C	ENST00000400558.3	-	3	471	c.381A>G	c.(379-381)ccA>ccG	p.P127P	C21orf91_ENST00000284881.4_Silent_p.P127P|C21orf91_ENST00000400559.3_Silent_p.P127P|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATTTTTCTTCTGGCTTATGCC	0.383																																						uc002yko.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(379-381)ccA>ccG		Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.							125	113	117					21																	19169182		1818	4084	5902	SO:0001819	synonymous_variant	54149							g.chr21:19169182T>C	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.381A>G	21.37:g.19169182T>C						C21orf91_uc002ykq.4_Silent_p.P127P|C21orf91_uc002ykp.4_Silent_p.P127P	p.P127P	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	472	-			127						Silent	SNP	ENST00000400558.3	37	c.381A>G	CCDS42909.1																																																																																				0.383	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		C	19169182	T	C	19169182	2	2	99	1	0	0	0	0	0	0	0	1	2134	1567	55	4		4	C21orf91	21	19169182	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		19169182	28960713	41	6787											
KRTAP22-1	337979	broad.mit.edu	37	chr21	31973461	31973461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttgataacaactacCatggtggccagggctatgcc	10	10	11	10	0	0	2	0	2	0	0	0	2	0	2	3	3	5	2	3	3	4	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:31973461C>T	ENST00000334680.2	+	1	48	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	8						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						TAACAACTACCATGGTGGCCA	0.453																																						uc011add.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						c.(22-24)Cat>Tat		Homo sapiens keratin associated protein 22-1 (KRTAP22-1), mRNA.							153	143	146					21																	31973461		2203	4300	6503	SO:0001583	missense	337979					intermediate filament		g.chr21:31973461C>T	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"Keratin associated proteins"	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.22C>T	21.37:g.31973461C>T	ENSP00000333887:p.His8Tyr					KRTAP6-2_uc011adc.2_5'Flank	p.H8Y	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			0	22	+			8						Missense_Mutation	SNP	ENST00000334680.2	37	c.22C>T	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686140	0.14973	.	.	ENSG00000186924	ENST00000334680	T	0.07908	3.15	3.64	-1.64	0.08318	.	1.043170	0.07640	N	0.930211	T	0.05914	0.0154	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43294	-0.9400	9	0.87932	D	0	.	3.1552	0.06502	0.1978:0.3695:0.0:0.4327	.	8	Q3MIV0	KR221_HUMAN	Y	8	ENSP00000333887:H8Y	ENSP00000333887:H8Y	H	+	1	0	KRTAP22-1	30895332	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.064000	0.11636	-0.306000	0.08818	-0.793000	0.03317	CAT		0.453	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2			T	31973461	C	T	31973461	3	4	99	1	0	0	0	0	1	0	0	0	8540	594	21	3	24	3	KRTAP22-1	21	31973461	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	12804279	31973461	16156434	42	6788											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtcaggcaggagcccGcgtgacgatcatggactatg	9	7	15	10	3	2	2	2	2	0	0	2	5	2	4	1	3	1	2	1	3	1	1	rs200407707		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:39382073G>A	ENST00000333467.3	+	3	476	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													G|||	1	0.000199681	0	0	5008	,	,		14866	0		0.001	False		,,,				2504	0					uc003awo.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(430-432)cGc>cAc		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.		G	HIS/ARG	0,4394		0,0,2197	51	56	54		431	-4.1	0	22		54	1,8557		0,1,4278	no	missense	APOBEC3B	NM_004900.3	29	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	144/383	39382073	1,12951	2197	4279	6476	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382073G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.431G>A	22.37:g.39382073G>A	ENSP00000327459:p.Arg144His					APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144H|APOBEC3B_uc003awq.1_Non-coding_Transcript	p.R144H	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			2	485	+	Melanoma(58;0.04)		144					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.431G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901239	0.33535	0.0	1.17E-4	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64991	-0.13;-0.13;-0.13	2.12	-4.07	0.03975	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.56992	0.2023	L	0.31664	0.95	0.09310	N	1	B;D	0.69078	0.0;0.997	B;D	0.64144	0.001;0.922	T	0.49960	-0.8883	9	0.30854	T	0.27	.	4.2649	0.10759	0.4142:0.3334:0.2524:0.0	.	144;144	B0QYD2;Q9UH17	.;ABC3B_HUMAN	H	144	ENSP00000385068:R144H;ENSP00000385060:R144H;ENSP00000327459:R144H	ENSP00000327459:R144H	R	+	2	0	APOBEC3B	37712019	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.070000	0.03440	-1.115000	0.02973	-1.111000	0.02071	CGC		0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		A	39382073	G	A	39382073	3	1	99	1	0	0	0	0	1	0	0	0	790	1087	38	1	441	1	APOBEC3B	22	39382073	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		39382073	11922493	43	6789											
CELSR1	9620	broad.mit.edu	37	chr22	46805742	46805742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctccattctgacaccGcctcccatcgcagaagttcc	7	9	8	17	2	1	2	0	1	1	1	5	2	4	2	6	1	1	2	6	1	1	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:46805742G>A	ENST00000262738.3	-	8	4968	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1657	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTGACACCGCCTCCCATCG	0.622																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4969-4971)Cgg>Tgg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							164	135	145					22																	46805742		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46805742G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4969C>T	22.37:g.46805742G>A	ENSP00000262738:p.Arg1657Trp					CELSR1_uc011arc.1_5'Flank	p.R1657W	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4969	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1657			EGF-like 4; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4969C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	1.989	-0.432325	0.04669	.	.	ENSG00000075275	ENST00000262738	D	0.92397	-3.03	4.22	2.0	0.26442	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.298600	0.05670	N	0.588505	D	0.86213	0.5879	N	0.25485	0.75	0.18873	N	0.999989	B	0.09022	0.002	B	0.04013	0.001	T	0.72469	-0.4284	10	0.49607	T	0.09	.	6.1108	0.20100	0.7467:0.1627:0.0906:0.0	.	1657	Q9NYQ6	CELR1_HUMAN	W	1657	ENSP00000262738:R1657W	ENSP00000262738:R1657W	R	-	1	2	CELSR1	45184406	0.000000	0.05858	0.011000	0.14972	0.023000	0.10783	0.038000	0.13862	0.136000	0.18733	-0.302000	0.09304	CGG		0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46805742	G	A	46805742	3	1	99	1	0	0	0	0	1	0	0	0	3221	1086	38	1	4187	1	CELSR1	22	46805742	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	7423669	46805742	4498824	44	6790											
ACE2	59272	broad.mit.edu	37	chrX	15589843	15589843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagttgagcagtggccttaCattcatgttctttgctccta	7	16	9	9	0	2	1	1	1	1	0	3	1	3	1	2	1	3	5	2	1	3	7			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:15589843C>T	ENST00000252519.3	-	13	1843	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	ACE2_ENST00000427411.1_Missense_Mutation_p.V581I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	581					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGTGGCCTTACATTCATGTTC	0.448																																						uc004cxa.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(1741-1743)Gta>Ata		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	Moexipril(DB00691)						211	188	196					X																	15589843		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15589843C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1741G>A	X.37:g.15589843C>T	ENSP00000252519:p.Val581Ile					ACE2_uc004cxb.2_Missense_Mutation_p.V581I	p.V581I	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			12	1909	-	Hepatocellular(33;0.183)		581					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1741G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336824	0.24253	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.33438	1.41;1.41	5.44	4.56	0.56223	.	0.262247	0.37053	N	0.002279	T	0.51568	0.1682	M	0.89534	3.04	0.27922	N	0.938208	B	0.27656	0.184	B	0.43018	0.405	T	0.55611	-0.8114	10	0.72032	D	0.01	-9.0009	10.2044	0.43105	0.1531:0.7025:0.1444:0.0	.	581	Q9BYF1	ACE2_HUMAN	I	581	ENSP00000252519:V581I;ENSP00000389326:V581I	ENSP00000252519:V581I	V	-	1	0	ACE2	15499764	1.000000	0.71417	0.024000	0.17045	0.042000	0.13812	2.938000	0.48987	1.014000	0.39417	0.600000	0.82982	GTA		0.448	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			T	15589843	C	T	15589843	3	4	99	1	0	0	0	0	1	0	0	0	137	478	17	3	700	3	ACE2	23	15589843	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		15589843	139680717	45	6791											
DMD	1756	broad.mit.edu	37	chrX	32490283	32490283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaaatattcacagacctGcaattccccgagtctctgct	11	12	5	13	1	3	1	2	0	1	1	5	2	4	1	3	0	2	2	3	0	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:32490283G>C	ENST00000357033.4	-	22	3153	c.2947C>G	c.(2947-2949)Cag>Gag	p.Q983E	DMD_ENST00000378677.2_Missense_Mutation_p.Q979E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	983					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCACAGACCTGCAATTCCCCG	0.388																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2947-2949)Cag>Gag		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							153	136	142					X																	32490283		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32490283G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2947C>G	X.37:g.32490283G>C	ENSP00000354923:p.Gln983Glu					DMD_uc004dcz.2_Missense_Mutation_p.Q860E|DMD_uc004dcy.1_Missense_Mutation_p.Q979E|DMD_uc004ddb.1_Missense_Mutation_p.Q975E|DMD_uc010ngo.1_Intron	p.Q983E	NM_004006	NP_004001	P11532	DMD_HUMAN			21	3191	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	983					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2947C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.959	1.222299	0.22457	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.33865	1.39;1.39	5.2	4.24	0.50183	.	0.243530	0.20657	U	0.088081	T	0.24812	0.0602	N	0.24115	0.695	0.80722	D	1	B;B;B	0.22800	0.015;0.075;0.019	B;B;B	0.25614	0.037;0.048;0.062	T	0.06770	-1.0808	10	0.41790	T	0.15	.	9.825	0.40905	0.0:0.0:0.4879:0.5121	.	975;983;979	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	E	975;979;983;983;860	ENSP00000367948:Q979E;ENSP00000354923:Q983E	ENSP00000354923:Q983E	Q	-	1	0	DMD	32400204	1.000000	0.71417	0.979000	0.43373	0.144000	0.21451	4.351000	0.59398	2.166000	0.68216	0.544000	0.68410	CAG		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32490283	G	C	32490283	3	2	99	1	0	0	0	0	1	0	0	0	4580	1328	46	5	8585	5	DMD	23	32490283	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	16900440	32490283	122780277	46	6792											
PHKA1	5255	broad.mit.edu	37	chrX	71843109	71843109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtcaaaaactctgacaAtttacctgtttgaaccctaa	13	14	5	9	0	2	2	1	2	1	0	2	2	2	2	2	0	3	2	2	0	6	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:71843109A>G	ENST00000373542.4	-	18	1969	c.1810T>C	c.(1810-1812)Ttg>Ctg	p.L604L	PHKA1_ENST00000373539.3_Silent_p.L604L|PHKA1_ENST00000541944.1_Silent_p.L604L|PHKA1_ENST00000373545.3_Silent_p.L604L|PHKA1_ENST00000339490.3_Silent_p.L604L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	604					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCTGACAATTTACCTGTT	0.383																																						uc004eax.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1810-1812)Ttg>Ctg		Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.							88	65	73					X																	71843109		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71843109A>G		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1810T>C	X.37:g.71843109A>G						PHKA1_uc004eay.4_Silent_p.L604L|PHKA1_uc011mqi.2_Silent_p.L604L	p.L604L	NM_002637	NP_002628	P46020	KPB1_HUMAN			17	2111	-	Renal(35;0.156)		604					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.1810T>C	CCDS14421.1																																																																																				0.383	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			G	71843109	A	G	71843109	2	3	99	1	0	0	0	0	0	0	0	1	11843	98	4	4		4	PHKA1	23	71843109	Silent	SNP	A	TCGA-06-6389-01A-11D-1696-08	39352826	71843109	83427451	47	6793											
P2RY10	27334	broad.mit.edu	37	chrX	78216344	78216344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccctttgcctgctctgCttctacctgaagtatctcaa	8	13	7	13	0	3	2	1	1	3	1	4	2	3	2	3	0	5	3	3	0	4	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:78216344C>T	ENST00000171757.2	+	4	607	c.327C>T	c.(325-327)tgC>tgT	p.C109C	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.C109C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCCTGCTCTGCTTCTACCTGA	0.483																																						uc022bzl.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(325-327)tgC>tgT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							120	111	114					X																	78216344		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216344C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.327C>T	X.37:g.78216344C>T						P2RY10_uc004ede.3_Silent_p.C109C|P2RY10_uc004edf.3_Silent_p.C109C	p.C109C	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	327	+			109					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.327C>T	CCDS14442.1																																																																																				0.483	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			T	78216344	C	T	78216344	2	4	99	1	0	0	0	0	0	0	0	1	11347	805	28	3		3	P2RY10	23	78216344	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	6373235	78216344	77054216	48	6794											
COL4A6	1288	broad.mit.edu	37	chrX	107435807	107435807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacaccaggatctccaggaTtacctggcattgtaatgaaa	13	10	9	9	0	1	1	0	1	1	0	2	3	1	3	3	3	2	3	3	3	4	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:107435807T>C	ENST00000372216.4	-	18	1179	c.1079A>G	c.(1078-1080)aAt>aGt	p.N360S	COL4A6_ENST00000538570.1_Missense_Mutation_p.N359S|COL4A6_ENST00000394872.2_Missense_Mutation_p.N360S|COL4A6_ENST00000545689.1_Missense_Mutation_p.N359S|COL4A6_ENST00000334504.7_Missense_Mutation_p.N359S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	360	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCTCCAGGATTACCTGGCAT	0.502									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1078-1080)aAt>aGt		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							47	34	38					X																	107435807		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107435807T>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1079A>G	X.37:g.107435807T>C	ENSP00000361290:p.Asn360Ser					COL4A6_uc004env.4_Missense_Mutation_p.N359S|COL4A6_uc011msn.2_Missense_Mutation_p.N359S|COL4A6_uc010npk.3_Missense_Mutation_p.N359S	p.N360S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			17	1182	-			360			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1079A>G	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465967	0.26335	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21	4.77	2.08	0.27032	.	0.708209	0.11671	N	0.540836	D	0.85080	0.5615	N	0.21282	0.65	0.23120	N	0.99827	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.70978	-0.4725	10	0.21014	T	0.42	.	5.3434	0.15996	0.151:0.0:0.3875:0.4615	.	359;359;360;359	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	360;359;360;359;359;359	ENSP00000361290:N360S;ENSP00000334733:N359S;ENSP00000378340:N360S;ENSP00000443707:N359S;ENSP00000445236:N359S	ENSP00000334733:N359S	N	-	2	0	COL4A6	107322463	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	0.744000	0.26245	0.697000	0.31718	0.425000	0.28330	AAT		0.502	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			C	107435807	T	C	107435807	3	2	99	1	0	0	0	0	1	0	0	0	3695	1493	52	4	4108	4	COL4A6	23	107435807	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08	29219463	107435807	47834753	49	6795											
GABRQ	55879	broad.mit.edu	37	chrX	151820028	151820028	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccaccatcgactcacAtctgcgggataagctcccca	10	7	7	17	2	2	1	1	1	1	0	4	3	3	2	5	1	2	1	5	1	1	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:151820028A>C	ENST00000370306.2	+	8	961	c.941A>C	c.(940-942)cAt>cCt	p.H314P		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	314					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCGACTCACATCTGCGGGAT	0.468																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(940-942)cAt>cCt		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.							312	252	272					X																	151820028		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820028A>C	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.941A>C	X.37:g.151820028A>C	ENSP00000359329:p.His314Pro						p.H314P	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			7	961	+	Acute lymphoblastic leukemia(192;6.56e-05)		314					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.941A>C	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849400	0.32699	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	5.88	3.42	0.39159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.127459	0.36338	N	0.002655	D	0.88610	0.6483	M	0.66297	2.02	0.34700	D	0.726678	D	0.71674	0.998	D	0.68483	0.958	D	0.88206	0.2887	10	0.51188	T	0.08	.	5.5876	0.17283	0.7619:0.0:0.0845:0.1535	.	314	Q9UN88	GBRT_HUMAN	P	314	ENSP00000359329:H314P	ENSP00000359329:H314P	H	+	2	0	GABRQ	151570684	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	7.427000	0.80284	0.287000	0.22375	-0.323000	0.08544	CAT		0.468	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		C	151820028	A	C	151820028	3	2	99	1	0	0	0	0	1	0	0	0	6175	217	8	5	971	5	GABRQ	23	151820028	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	44384221	151820028	3450532	50	6796											
SLC30A7	148867	broad.mit.edu	37	chr1	101379278	101379278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcacatggccatgtcGatcattgccatagccatgaa	12	9	9	11	1	2	1	2	1	0	0	3	2	2	1	3	2	2	1	3	2	2	2	rs371349673		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:101379278G>T	ENST00000370112.4	+	6	758	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.D191Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	191	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGCCATGTCGATCATTGCCA	0.443																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(571-573)Gat>Tat		Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.							167	131	143					1																	101379278		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101379278G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.571G>T	1.37:g.101379278G>T	ENSP00000359130:p.Asp191Tyr					SLC30A7_uc001dto.2_Missense_Mutation_p.D191Y	p.D191Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	758	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	191			His-rich loop.		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.571G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443698	0.43429	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.67523	-0.27;-0.27	5.53	5.53	0.82687	.	0.192773	0.53938	D	0.000051	T	0.53029	0.1771	M	0.70275	2.135	0.35725	D	0.817449	P	0.42078	0.77	B	0.36464	0.225	T	0.66081	-0.6012	10	0.59425	D	0.04	-13.7028	12.7636	0.57378	0.0753:0.0:0.9247:0.0	.	191	Q8NEW0	ZNT7_HUMAN	Y	191	ENSP00000359130:D191Y;ENSP00000350278:D191Y	ENSP00000350278:D191Y	D	+	1	0	SLC30A7	101151866	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	6.168000	0.71908	2.600000	0.87896	0.585000	0.79938	GAT		0.443	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		T	101379278	G	T	101379278	3	4	100	1	0	0	0	0	1	0	0	0	14560	1058	37	5	593	5	SLC30A7	1	101379278	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		101379278	147871343	1	6797											
NPL	80896	broad.mit.edu	37	chr1	182787959	182787959	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattagcaactgttgagTgctctggtgatgggagcaac	9	12	13	7	0	2	3	0	3	2	0	2	4	2	4	0	2	5	4	0	2	3	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:182787959T>G	ENST00000367553.1	+	9	662	c.618T>G	c.(616-618)agT>agG	p.S206R	NPL_ENST00000258317.2_Missense_Mutation_p.S206R|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Intron|NPL_ENST00000367555.1_Intron|NPL_ENST00000367554.3_Missense_Mutation_p.S187R	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	206					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGTTGAGTGCTCTGGTGA	0.393																																						uc009wyb.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.(616-618)agT>agG		Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.							80	87	85					1																	182787959		2203	4300	6503	SO:0001583	missense	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182787959T>G	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.618T>G	1.37:g.182787959T>G	ENSP00000356524:p.Ser206Arg					NPL_uc010pnx.2_Intron|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.S206R|NPL_uc021pfz.1_Missense_Mutation_p.S206R|NPL_uc009wyc.3_Intron|NPL_uc001gpo.2_Missense_Mutation_p.S187R	p.S206R	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN			9	1046	+			206					B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	37	c.618T>G	CCDS1350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.37|18.37	3.609913|3.609913	0.66558|0.66558	.|.	.|.	ENSG00000135838|ENSG00000135838	ENST00000445965|ENST00000367554;ENST00000367553;ENST00000258317	.|D;D;D	.|0.82803	.|-1.65;-1.65;-1.65	5.48|5.48	3.19|3.19	0.36642|0.36642	.|Aldolase-type TIM barrel (1);	.|0.128904	.|0.64402	.|D	.|0.000001	D|D	0.86863|0.86863	0.6035|0.6035	M|M	0.67397|0.67397	2.05|2.05	0.42876|0.42876	D|D	0.994159|0.994159	.|D;D;D	.|0.71674	.|0.973;0.979;0.998	.|P;P;P	.|0.62184	.|0.773;0.763;0.899	D|D	0.85336|0.85336	0.1093|0.1093	6|10	0.27082|0.72032	T|D	0.32|0.01	-11.4397|-11.4397	8.0076|8.0076	0.30334|0.30334	0.0:0.1589:0.0:0.8411|0.0:0.1589:0.0:0.8411	.|.	.|206;206;187	.|Q9BXD5;Q9BXD5-3;Q9BXD5-2	.|NPL_HUMAN;.;.	G|R	122|187;206;206	.|ENSP00000356525:S187R;ENSP00000356524:S206R;ENSP00000258317:S206R	ENSP00000414118:C122G|ENSP00000258317:S206R	C|S	+|+	1|3	0|2	NPL|NPL	181054582|181054582	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.963000|0.963000	0.63663|0.63663	0.798000|0.798000	0.27014|0.27014	0.394000|0.394000	0.25230|0.25230	0.533000|0.533000	0.62120|0.62120	TGC|AGT		0.393	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		G	182787959	T	G	182787959	3	3	100	1	0	0	0	0	1	0	0	0	10585	1693	59	5	648	5	NPL	1	182787959	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	81408681	182787959	66462662	2	6798											
AHCTF1	25909	broad.mit.edu	37	chr1	247024397	247024397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtagtctcatcggatgtGattgaaacactgctgtttcc	10	13	10	8	1	1	2	1	2	1	0	4	3	2	3	1	2	2	3	1	2	3	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247024397G>A	ENST00000391829.2	-	29	4059	c.3936C>T	c.(3934-3936)atC>atT	p.I1312I	AHCTF1_ENST00000326225.3_Silent_p.I1321I|AHCTF1_ENST00000366508.1_Silent_p.I1347I|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1312	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATCGGATGTGATTGAAACAC	0.463																																					Colon(145;197 1800 4745 15099 26333)	uc001ibv.2																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3961-3963)atC>atT		Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.							74	65	68					1																	247024397		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024397G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3936C>T	1.37:g.247024397G>A						AHCTF1_uc009xgs.1_Silent_p.I173I|AHCTF1_uc001ibw.1_Non-coding_Transcript	p.I1321I	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	4060	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1312			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.3963C>T																																																																																					0.463	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		A	247024397	G	A	247024397	2	1	100	1	0	0	0	0	0	0	0	1	408	1280	45	3		3	AHCTF1	1	247024397	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	64236438	247024397	2226224	3	6799											
NLRP3	114548	broad.mit.edu	37	chr1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagataatgcacgtgtttCgaatcccactgtgatatgcc	10	13	8	10	2	1	2	1	1	0	1	3	3	2	2	2	0	2	2	2	0	3	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247586553C>T	ENST00000336119.3	+	2	1051	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.S102L|NLRP3_ENST00000366496.2_Missense_Mutation_p.S102L|NLRP3_ENST00000348069.2_Missense_Mutation_p.S102L|NLRP3_ENST00000366497.2_Missense_Mutation_p.S102L|NLRP3_ENST00000391827.2_Missense_Mutation_p.S102L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S102L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACGTGTTTCGAATCCCACT	0.403																																						uc001icr.3																			1	Substitution - Missense(1)	p.S102L(2)|p.S102S(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(304-306)tCg>tTg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							207	199	201					1																	247586553		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247586553C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.305C>T	1.37:g.247586553C>T	ENSP00000337383:p.Ser102Leu					NLRP3_uc001ics.3_Missense_Mutation_p.S102L|NLRP3_uc001icu.3_Missense_Mutation_p.S102L|NLRP3_uc001icw.3_Missense_Mutation_p.S102L|NLRP3_uc001icv.3_Missense_Mutation_p.S102L|NLRP3_uc010pyw.2_Missense_Mutation_p.S100L|NLRP3_uc001ict.1_Missense_Mutation_p.S100L	p.S102L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	443	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	102					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.305C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252959	0.22965	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74947	-0.81;-0.83;-0.81;-0.89;-0.83;-0.86	2.86	2.86	0.33363	.	0.690319	0.12740	N	0.443110	T	0.56411	0.1983	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.33266	0.01;0.103;0.404;0.036;0.282	B;B;B;B;B	0.18871	0.001;0.01;0.023;0.004;0.01	T	0.43669	-0.9377	10	0.30854	T	0.27	.	9.3943	0.38392	0.0:1.0:0.0:0.0	.	102;102;102;102;102	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	102	ENSP00000375704:S102L;ENSP00000355453:S102L;ENSP00000337383:S102L;ENSP00000294752:S102L;ENSP00000355452:S102L;ENSP00000375703:S102L	ENSP00000337383:S102L	S	+	2	0	NLRP3	245653176	0.006000	0.16342	0.013000	0.15412	0.008000	0.06430	2.040000	0.41203	1.888000	0.54679	0.655000	0.94253	TCG		0.403	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247586553	C	T	247586553	3	4	100	1	0	0	0	0	1	0	0	0	10478	893	31	2	311	2	NLRP3	1	247586553	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	562156	247586553	1664068	4	6800											
TTN	7273	broad.mit.edu	37	chr2	179596192	179596192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcttcagtgatttcatcGctgtcttttagccaagtcac	7	16	7	11	2	5	1	3	1	2	0	7	1	5	1	1	0	1	1	1	0	2	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr2:179596192G>A	ENST00000591111.1	-	57	16574	c.16350C>T	c.(16348-16350)agC>agT	p.S5450S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S4523S|TTN_ENST00000589042.1_Silent_p.S5767S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12269	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCATCGCTGTCTTTTA	0.483																																						uc021vsy.1																			0		p.E4523K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13567-13569)agC>agT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							88	83	85					2																	179596192		1925	4141	6066	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596192G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16350C>T	2.37:g.179596192G>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	p.S4523S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	13794	-			5450			Ig-like 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.13569C>T																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179596192	G	A	179596192	2	1	100	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179596192	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		179596192	63603181	5	6801											
QARS	5859	broad.mit.edu	37	chr3	49142151	49142151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagtgaagagcgacagggAgtctagagccgccattgcag	11	6	15	9	2	1	3	0	1	1	2	1	5	1	4	2	1	3	2	2	1	3	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49142151A>G	ENST00000306125.6	-	1	353	c.16T>C	c.(16-18)Tcc>Ccc	p.S6P	QARS_ENST00000414533.1_Missense_Mutation_p.S6P|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.S24P			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	6					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCGACAGGGAGTCTAGAGCC	0.602																																						uc003cvx.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(16-18)Tcc>Ccc		Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	L-Glutamine(DB00130)						37	43	41					3																	49142151		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49142151A>G	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.16T>C	3.37:g.49142151A>G	ENSP00000307567:p.Ser6Pro					QARS_uc011bcd.2_5'Flank|QARS_uc003cvy.3_5'UTR|QARS_uc011bce.2_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	p.S6P	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	0	21	-			6					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.16T>C	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781555	0.49891	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.23348	1.91;1.91	5.35	-0.0962	0.13637	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.378699	0.30850	N	0.008758	T	0.25457	0.0619	L	0.36672	1.1	0.34867	D	0.743187	D;B;B	0.55800	0.973;0.364;0.364	P;B;B	0.57846	0.828;0.36;0.36	T	0.32455	-0.9906	10	0.30078	T	0.28	-10.3021	3.7917	0.08722	0.5622:0.2499:0.068:0.1199	.	24;6;6	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	P	6;6;24;6;6	ENSP00000307567:S6P;ENSP00000390015:S6P	ENSP00000307567:S6P	S	-	1	0	QARS	49117155	0.998000	0.40836	0.475000	0.27278	0.273000	0.26683	0.741000	0.26202	-0.068000	0.12953	0.533000	0.62120	TCC		0.602	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		G	49142151	A	G	49142151	3	3	100	1	0	0	0	0	1	0	0	0	12871	304	11	4	2407	4	QARS	3	49142151	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08		49142151	148880279	6	6802											
UBA7	7318	broad.mit.edu	37	chr3	49847050	49847050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtggccaagagcccaCgccacacagtcttgccagtt	9	8	9	15	1	1	1	0	0	1	1	2	1	2	1	5	1	2	1	5	1	1	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49847050C>T	ENST00000333486.3	-	16	2171	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	671					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547																																						uc003cxr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2011-2013)gcG>gcA		Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.							97	99	98					3																	49847050		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847050C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2013G>A	3.37:g.49847050C>T							p.A671A	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2184	-			671					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.2013G>A	CCDS2805.1																																																																																				0.547	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49847050	C	T	49847050	2	4	100	1	0	0	0	0	0	0	0	1	16830	523	19	1		1	UBA7	3	49847050	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	704899	49847050	148175380	7	6803											
ABCC5	10057	broad.mit.edu	37	chr3	183677612	183677612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaaccactggtttccttTtttgaattgatctaataata	11	18	6	6	0	1	3	0	3	1	0	2	3	2	3	2	1	1	1	2	1	5	8			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:183677612T>C	ENST00000334444.6	-	17	2631	c.2391A>G	c.(2389-2391)aaA>aaG	p.K797K	ABCC5_ENST00000265586.6_Silent_p.K797K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	797					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGTTTCCTTTTTTGAATTGA	0.363																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2389-2391)aaA>aaG		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.							126	110	115					3																	183677612		1802	4066	5868	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183677612T>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2391A>G	3.37:g.183677612T>C						ABCC5_uc011bqt.2_Silent_p.K325K|ABCC5_uc010hxl.3_Silent_p.K797K	p.K797K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2556	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		797					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2391A>G	CCDS43176.1																																																																																				0.363	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		C	183677612	T	C	183677612	2	2	100	1	0	0	0	0	0	0	0	1	56	1838	64	4		4	ABCC5	3	183677612	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	133830562	183677612	14344818	8	6804											
ZNF595	152687	broad.mit.edu	37	chr4	85691	85691	+	3'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattcattccacaaacttaTactgaaaagatacgagaaat	19	10	5	7	1	1	4	1	1	0	3	2	5	2	4	1	0	3	0	1	0	7	5			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:85691T>C	ENST00000339368.6	+	0	500							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CACAAACTTATACTGAAAAGA	0.353																																						uc003fzv.1																			0											c.(295-297)aTa>aCa		Homo sapiens zinc finger protein 595 (ZNF595), mRNA.							84	89	87					4																	85691		2060	4245	6305	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:85691T>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*497T>C	4.37:g.85691T>C						ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	p.I99T	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	3	452	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	99						Missense_Mutation	SNP	ENST00000339368.6	37	c.296T>C																																																																																					0.353	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		C	85691	T	C	85691	1	2	100	0	1	0	0	0	0	0	0	0	18022	1406	49	4		4	ZNF595	4	85691	3'UTR	SNP	T	TCGA-06-6390-01A-11D-1696-08		85691	191068585	9	6805											
FAM193A	8603	broad.mit.edu	37	chr4	2733554	2733554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactgtctatcaactggTccaattttagcttgaaaaaa	16	12	6	7	0	2	2	1	1	1	1	3	2	3	2	1	1	2	1	1	1	8	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:2733554T>C	ENST00000324666.5	+	20	4108	c.3757T>C	c.(3757-3759)Tcc>Ccc	p.S1253P	FAM193A_ENST00000382839.3_Missense_Mutation_p.S1212P|FAM193A_ENST00000502458.1_Missense_Mutation_p.S1234P|FAM193A_ENST00000505311.1_3'UTR	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1253										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TATCAACTGGTCCAATTTTAG	0.517																																						uc010ick.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(4234-4236)Tcc>Ccc		Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.							132	129	130					4																	2733554		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2733554T>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3757T>C	4.37:g.2733554T>C	ENSP00000324587:p.Ser1253Pro					FAM193A_uc003gfd.3_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.2_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.2_3'UTR|FAM193A_uc010icl.3_Missense_Mutation_p.S1253P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	p.S1412P	NM_003704	NP_003695	P78312	F193A_HUMAN			19	4235	+			1253					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.4234T>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491011	0.84962	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000502458	T;T;T	0.49432	0.78;0.78;0.78	5.14	5.14	0.70334	.	0.141480	0.49305	D	0.000147	T	0.56717	0.2004	L	0.29908	0.895	0.80722	D	1	P;P;D;D	0.69078	0.714;0.913;0.988;0.997	B;P;D;D	0.80764	0.417;0.601;0.971;0.994	T	0.60747	-0.7202	10	0.66056	D	0.02	-8.4727	14.1414	0.65322	0.0:0.0:0.0:1.0	.	1234;1253;1234;1212	E9PFA1;P78312;B7ZM85;P78312-2	.;F193A_HUMAN;.;.	P	1212;1253;1234	ENSP00000372290:S1212P;ENSP00000324587:S1253P;ENSP00000427505:S1234P	ENSP00000324587:S1253P	S	+	1	0	FAM193A	2703352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.740000	0.84986	1.950000	0.56595	0.459000	0.35465	TCC		0.517	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		C	2733554	T	C	2733554	3	2	100	1	0	0	0	0	1	0	0	0	5524	1667	58	4	3700	4	FAM193A	4	2733554	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	2647863	2733554	188420722	10	6806											
PRKG2	5593	broad.mit.edu	37	chr4	82063966	82063966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaagctcaactcttccgaaCccaccaacgcccagtgttgc	11	7	6	17	2	2	0	1	0	1	0	3	1	3	0	4	0	5	2	4	0	4	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:82063966C>A	ENST00000395578.1	-	11	1505	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	PRKG2_ENST00000545647.1_Silent_p.G43G|PRKG2_ENST00000418486.2_Intron|PRKG2_ENST00000264399.1_Silent_p.G463G|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	463	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCTTCCGAACCCACCAACGC	0.428																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1387-1389)ggG>ggT		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							176	187	184					4																	82063966		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82063966C>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1389G>T	4.37:g.82063966C>A						PRKG2_uc011ccf.1_Silent_p.G43G|PRKG2_uc011ccg.1_Silent_p.G43G|PRKG2_uc011cch.1_Intron	p.G463G	NM_006259	NP_006250	Q13237	KGP2_HUMAN			9	1402	-			463			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1389G>T	CCDS3589.1																																																																																				0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82063966	C	A	82063966	2	1	100	1	0	0	0	0	0	0	0	1	12523	494	18	5		5	PRKG2	4	82063966	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	79330412	82063966	109090310	11	6807											
FAT1	2195	broad.mit.edu	37	chr4	187630082	187630082	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcactgttctaaactgctgGagaaggtcacctgccacgat	10	10	9	12	1	3	1	2	0	1	1	3	3	3	1	2	2	3	2	2	2	3	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:187630082G>T	ENST00000441802.2	-	2	1109	c.900C>A	c.(898-900)ctC>ctA	p.L300L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	300					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAACTGCTGGAGAAGGTCAC	0.493										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(898-900)ctC>ctA		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.							256	255	255					4																	187630082		2092	4213	6305	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630082G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.900C>A	4.37:g.187630082G>T		HNSCC(5;0.00058)				FAT1_uc010iso.1_Silent_p.L300L	p.L300L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			1	1088	-			300						Silent	SNP	ENST00000441802.2	37	c.900C>A	CCDS47177.1																																																																																				0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187630082	G	T	187630082	2	4	100	1	0	0	0	0	0	0	0	1	5689	1161	41	5		5	FAT1	4	187630082	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	105566116	187630082	3524194	12	6808											
GABRA6	2559	broad.mit.edu	37	chr5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtttgctttgcattcGtcttctctgcgcttatcgag	4	18	9	10	3	2	0	0	0	2	0	5	1	2	0	0	0	4	5	0	0	2	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:161119060G>A	ENST00000274545.5	+	8	1373	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_ENST00000523217.1_Missense_Mutation_p.V304I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	314					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V314I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.V314I(2)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(940-942)Gtc>Atc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						176	146	156					5																	161119060		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119060G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.940G>A	5.37:g.161119060G>A	ENSP00000274545:p.Val314Ile	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	p.V314I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1278	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	314					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.940G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062912	0.93898	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88354	-2.37;-2.37	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94268	0.7508	10	0.87932	D	0	.	18.9984	0.92822	0.0:0.0:1.0:0.0	.	314	Q16445	GBRA6_HUMAN	I	314;304	ENSP00000274545:V314I;ENSP00000430527:V304I	ENSP00000274545:V314I	V	+	1	0	GABRA6	161051638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.751000	0.98889	2.468000	0.83385	0.650000	0.86243	GTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			A	161119060	G	A	161119060	3	1	100	1	0	0	0	0	1	0	0	0	6165	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		161119060	19796200	13	6809											
ZNF354C	30832	broad.mit.edu	37	chr5	178506220	178506220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcatcccttctttctcatCagagaattcatactggagag	11	13	7	10	0	5	2	4	0	2	2	7	5	6	2	1	1	1	0	1	1	2	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506220C>G	ENST00000315475.6	+	5	1093	c.787C>G	c.(787-789)Cag>Gag	p.Q263E		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTTTCTCATCAGAGAATTCA	0.388																																						uc003mju.3																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(787-789)Cag>Gag		Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.							56	60	58					5																	178506220		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506220C>G		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.787C>G	5.37:g.178506220C>G	ENSP00000324064:p.Gln263Glu						p.Q263E	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	4	902	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	263					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.787C>G	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951310	0.53186	.	.	ENSG00000177932	ENST00000315475	T	0.17854	2.25	3.7	3.7	0.42460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18087	0.0434	L	0.31120	0.905	0.29204	N	0.875059	P	0.49090	0.919	P	0.46850	0.529	T	0.03673	-1.1014	9	0.51188	T	0.08	-14.4764	13.3408	0.60542	0.0:1.0:0.0:0.0	.	263	Q86Y25	Z354C_HUMAN	E	263	ENSP00000324064:Q263E	ENSP00000324064:Q263E	Q	+	1	0	ZNF354C	178438826	0.997000	0.39634	0.997000	0.53966	0.995000	0.86356	1.724000	0.38064	2.050000	0.60909	0.591000	0.81541	CAG		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			G	178506220	C	G	178506220	3	3	100	1	0	0	0	0	1	0	0	0	17863	827	29	5	801	5	ZNF354C	5	178506220	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	17387160	178506220	2409040	14	6810			1	23		3	3	346	C		1.941031e-07
ZNF354C	30832	broad.mit.edu	37	chr5	178506472	178506472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcaaaacttcacaggcatCaaagaatccatacaggtgag	17	6	9	9	0	2	2	2	1	0	1	3	3	3	2	1	2	3	2	1	2	5	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506472C>G	ENST00000315475.6	+	5	1345	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCACAGGCATCAAAGAATCCA	0.428																																						uc003mju.3																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1039-1041)Caa>Gaa		Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.							147	158	155					5																	178506472		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506472C>G		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1039C>G	5.37:g.178506472C>G	ENSP00000324064:p.Gln347Glu						p.Q347E	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	4	1154	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	347					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1039C>G	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922647	0.52653	.	.	ENSG00000177932	ENST00000315475	T	0.07327	3.2	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	L	0.29908	0.895	0.27208	N	0.96	B	0.23128	0.08	B	0.18263	0.021	T	0.11767	-1.0574	9	0.56958	D	0.05	-10.759	10.0268	0.42076	0.0:0.7942:0.2058:0.0	.	347	Q86Y25	Z354C_HUMAN	E	347	ENSP00000324064:Q347E	ENSP00000324064:Q347E	Q	+	1	0	ZNF354C	178439078	0.002000	0.14202	0.945000	0.38365	0.991000	0.79684	0.971000	0.29396	2.226000	0.72624	0.591000	0.81541	CAA		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			G	178506472	C	G	178506472	3	3	100	1	0	0	0	0	1	0	0	0	17863	827	29	5	1053	5	ZNF354C	5	178506472	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	252	178506472	2408788	15	6811			1	23		3	3	346	C		1.941031e-07
ZNF354C	30832	broad.mit.edu	37	chr5	178506565	178506565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgaacatcagaggtttCatactggagaacaactgtat	14	11	9	7	0	2	3	2	1	0	2	2	4	2	3	0	2	5	3	0	2	6	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506565C>A	ENST00000315475.6	+	5	1438	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGAGGTTTCATACTGGAGA	0.428																																						uc003mju.3																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1132-1134)Cat>Aat		Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.							122	115	117					5																	178506565		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506565C>A		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1132C>A	5.37:g.178506565C>A	ENSP00000324064:p.His378Asn						p.H378N	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	4	1247	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	378					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1132C>A	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090939	0.55968	.	.	ENSG00000177932	ENST00000315475	T	0.67345	-0.26	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87067	0.6085	H	0.96604	3.85	0.46631	D	0.999132	D	0.76494	0.999	D	0.87578	0.998	D	0.91218	0.5004	9	0.87932	D	0	-18.2562	14.0864	0.64959	0.0:1.0:0.0:0.0	.	378	Q86Y25	Z354C_HUMAN	N	378	ENSP00000324064:H378N	ENSP00000324064:H378N	H	+	1	0	ZNF354C	178439171	1.000000	0.71417	0.994000	0.49952	0.340000	0.28889	5.632000	0.67819	2.226000	0.72624	0.591000	0.81541	CAT		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			A	178506565	C	A	178506565	3	1	100	1	0	0	0	0	1	0	0	0	17863	826	29	5	1146	5	ZNF354C	5	178506565	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	93	178506565	2408695	16	6812			1	23		3	3	346	C		1.941031e-07
FTSJD2	23070	broad.mit.edu	37	chr6	37446254	37446254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacacagggcgtgatgaccgGcactttgtacccatgggcct	8	9	12	12	2	0	2	0	2	0	0	0	2	0	2	3	3	2	2	3	3	2	3	rs371966953		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr6:37446254G>A	ENST00000373451.4	+	22	2387	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	741	Interaction with POLR2A.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GTGATGACCGGCACTTTGTAC	0.587																																						uc003ons.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(2221-2223)cgG>cgA		Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.		G		0,4406		0,0,2203	217	195	202		2223	1.5	1	6		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FTSJD2	NM_015050.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		741/836	37446254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37446254G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2223G>A	6.37:g.37446254G>A							p.R741R	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			21	2476	+			741			Interaction with POLR2A.		A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.2223G>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298647	0.23650	0.0	1.16E-4	ENSG00000137200	ENST00000457419	.	.	.	5.44	1.48	0.22813	.	.	.	.	.	T	0.37652	0.1011	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-19.3211	5.6637	0.17682	0.1516:0.0:0.4713:0.3771	.	.	.	.	D	94	.	.	G	+	2	0	FTSJD2	37554232	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.521000	0.22893	0.828000	0.34709	0.655000	0.94253	GGC		0.587	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		A	37446254	G	A	37446254	2	1	100	1	0	0	0	0	0	0	0	1	6091	1190	42	3		3	FTSJD2	6	37446254	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		37446254	133668813	17	6813											
IGFBP1	3484	broad.mit.edu	37	chr7	45930223	45930223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gataatttccatctgatggcCccttctgaagaggatcattc	10	13	8	10	0	3	3	1	2	2	1	5	5	4	4	3	2	0	0	3	2	2	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:45930223C>T	ENST00000275525.3	+	2	722	c.426C>T	c.(424-426)gcC>gcT	p.A142A	IGFBP1_ENST00000468955.1_Silent_p.A142A|IGFBP1_ENST00000457280.1_Silent_p.A142A	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	142					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						ATCTGATGGCCCCTTCTGAAG	0.517											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tnp.3																			0				large_intestine(2)|lung(4)	6						c.(424-426)gcC>gcT		Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.							124	123	123					7																	45930223		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930223C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.426C>T	7.37:g.45930223C>T			OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935		p.A142A	NM_000596	NP_000587	P08833	IBP1_HUMAN			1	719	+			142					A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.426C>T	CCDS5504.1																																																																																				0.517	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		T	45930223	C	T	45930223	2	4	100	1	0	0	0	0	0	0	0	1	7578	610	22	3		3	IGFBP1	7	45930223	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08		45930223	113208440	18	6814											
SEPT14	346288	broad.mit.edu	37	chr7	55910809	55910809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcatctatgtagtcaacTattggttggtagctaaaaaa	13	13	10	5	0	2	0	1	0	1	0	2	0	2	0	0	3	2	5	0	3	8	7			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:55910809T>C	ENST00000388975.3	-	5	500	c.384A>G	c.(382-384)atA>atG	p.I128M	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	128	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAGTCAACTATTGGTTGGT	0.358																																						uc003tqz.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(382-384)atA>atG		Homo sapiens septin 14 (SEPT14), mRNA.							77	69	71					7																	55910809		1846	4093	5939	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55910809T>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.384A>G	7.37:g.55910809T>C	ENSP00000373627:p.Ile128Met						p.I128M	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	501	-	Breast(14;0.214)		128					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.384A>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	t	8.260	0.810966	0.16537	.	.	ENSG00000154997	ENST00000388975	T	0.58652	0.32	4.33	-8.67	0.00863	.	0.245246	0.25529	N	0.030047	T	0.69324	0.3098	M	0.93150	3.385	0.22457	N	0.999086	D	0.61080	0.989	D	0.67103	0.949	T	0.61377	-0.7075	10	0.87932	D	0	.	2.9338	0.05808	0.5178:0.0732:0.2126:0.1964	.	128	Q6ZU15	SEP14_HUMAN	M	128	ENSP00000373627:I128M	ENSP00000373627:I128M	I	-	3	3	SEPT14	55878303	0.433000	0.25562	0.010000	0.14722	0.027000	0.11550	-0.580000	0.05827	-1.906000	0.01089	-1.410000	0.01125	ATA		0.358	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		C	55910809	T	C	55910809	3	2	100	1	0	0	0	0	1	0	0	0	14063	1512	53	4	938	4	SEPT14	7	55910809	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	9980586	55910809	103227854	19	6815											
KIAA1324L	222223	broad.mit.edu	37	chr7	86526910	86526910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcactctcccacaggaaaTagaacgtacacccatcacag	15	5	6	15	1	2	1	1	0	1	1	3	2	2	2	2	1	3	2	2	1	4	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:86526910T>C	ENST00000450689.2	-	19	2782	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y795C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y699C|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y626C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	866						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCACAGGAAATAGAACGTACA	0.453																																						uc011kha.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2596-2598)tAt>tGt		Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.							100	87	91					7																	86526910		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86526910T>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2597A>G	7.37:g.86526910T>C	ENSP00000413445:p.Tyr866Cys					KIAA1324L_uc003uie.3_Missense_Mutation_p.Y699C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.Y752C|KIAA1324L_uc003uif.2_Missense_Mutation_p.Y618C	p.Y866C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			18	2782	-	Esophageal squamous(14;0.0058)		866					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2597A>G	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.992763	0.74703	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.59	4.4	0.53042	Mannose-6-phosphate receptor, binding (1);	0.186427	0.49305	D	0.000155	T	0.14614	0.0353	L	0.60455	1.87	0.49915	D	0.999834	D;D;D	0.71674	0.998;0.996;0.996	D;P;P	0.64595	0.927;0.855;0.794	T	0.00563	-1.1669	10	0.44086	T	0.13	.	11.0739	0.48019	0.1389:0.0:0.0:0.8611	.	866;626;699	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	C	866;626;795;699	ENSP00000413445:Y866C;ENSP00000297222:Y626C;ENSP00000397377:Y795C;ENSP00000402390:Y699C	ENSP00000297222:Y626C	Y	-	2	0	KIAA1324L	86364846	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.090000	0.57693	0.903000	0.36546	0.528000	0.53228	TAT		0.453	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		C	86526910	T	C	86526910	3	2	100	1	0	0	0	0	1	0	0	0	8224	1406	49	4	508	4	KIAA1324L	7	86526910	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	30616101	86526910	72611753	20	6816											
LY96	23643	broad.mit.edu	37	chr8	74941281	74941281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctacaccaacctaatTcaaattagaataaattgagt	17	12	3	9	0	2	2	2	1	0	1	3	2	3	2	3	0	2	0	3	0	8	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:74941281T>C	ENST00000284818.2	+	5	566	c.475T>C	c.(475-477)Tca>Cca	p.S159P	LY96_ENST00000518893.1_Missense_Mutation_p.S129P	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	159					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CCAACCTAATTCAAATTAGAA	0.323																																					GBM(131;1357 1748 34893 50149 52212)	uc003yad.3																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(475-477)Tca>Cca		Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.							61	61	61					8																	74941281		2202	4299	6501	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74941281T>C	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.475T>C	8.37:g.74941281T>C	ENSP00000284818:p.Ser159Pro					LY96_uc022awb.1_Missense_Mutation_p.S129P	p.S159P	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		4	589	+	Breast(64;0.0311)		159					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.475T>C	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313592	0.23908	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.44881	2.23;0.91	4.23	-2.59	0.06209	.	1.799640	0.02631	N	0.104310	T	0.20170	0.0485	N	0.22421	0.69	0.09310	N	1	P	0.40032	0.699	B	0.26310	0.068	T	0.12243	-1.0555	10	0.39692	T	0.17	.	1.0319	0.01540	0.2841:0.0965:0.3084:0.311	.	159	Q9Y6Y9	LY96_HUMAN	P	159;129	ENSP00000284818:S159P;ENSP00000430533:S129P	ENSP00000284818:S159P	S	+	1	0	LY96	75103835	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.257000	0.08745	-0.456000	0.07043	0.533000	0.62120	TCA		0.323	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		C	74941281	T	C	74941281	3	2	100	1	0	0	0	0	1	0	0	0	9102	1783	62	4	493	4	LY96	8	74941281	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		74941281	71422741	21	6817											
RUNX1T1	862	broad.mit.edu	37	chr8	93017373	93017373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcctcttcccgttttcGttcacatcgagaagcagctc	6	13	8	14	4	2	1	1	0	1	1	7	2	3	1	2	0	2	5	2	0	1	5	rs370870343		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:93017373G>A	ENST00000523629.1	-	6	1165	c.711C>T	c.(709-711)aaC>aaT	p.N237N	RUNX1T1_ENST00000422361.2_Silent_p.N200N|RUNX1T1_ENST00000396218.1_Silent_p.N210N|RUNX1T1_ENST00000265814.3_Silent_p.N237N|RUNX1T1_ENST00000360348.2_Silent_p.N200N|RUNX1T1_ENST00000436581.2_Silent_p.N248N|RUNX1T1_ENST00000520724.1_Silent_p.N200N|RUNX1T1_ENST00000518844.1_Silent_p.N210N|RUNX1T1_ENST00000521553.1_Silent_p.N200N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	237					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCGTTTTCGTTCACATCGA	0.537																																						uc022axs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(886-888)aaC>aaT		Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.		G	,,,,,,,,,,,,,,	0,4406		0,0,2203	178	158	165		630,711,711,711,711,711,711,630,651,744,888,630,711,600,600	5.7	1	8		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	,,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	210/578,237/605,237/605,237/605,237/605,237/605,237/605,210/578,217/585,248/616,296/664,210/578,237/605,200/568,200/568	93017373	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017373G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.711C>T	8.37:g.93017373G>A						RUNX1T1_uc003yfc.2_Silent_p.N210N|RUNX1T1_uc010mam.3_Silent_p.N210N|RUNX1T1_uc003yfe.2_Silent_p.N200N|RUNX1T1_uc003yfd.3_Silent_p.N237N|RUNX1T1_uc022axo.1_Silent_p.N237N|RUNX1T1_uc010mao.3_Silent_p.N210N|RUNX1T1_uc011lgi.2_Silent_p.N248N|RUNX1T1_uc022axp.1_Silent_p.N237N|RUNX1T1_uc022axq.1_Silent_p.N237N|RUNX1T1_uc022axr.1_Silent_p.N237N|RUNX1T1_uc022axt.1_Silent_p.N237N|RUNX1T1_uc022axu.1_Silent_p.N217N|RUNX1T1_uc022axv.1_Silent_p.N237N|RUNX1T1_uc003yfb.2_Silent_p.N200N|RUNX1T1_uc003yff.1_Silent_p.N200N	p.N296N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	1075	-			237			Poly-Pro.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.888C>T	CCDS6256.1																																																																																				0.537	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		A	93017373	G	A	93017373	2	1	100	1	0	0	0	0	0	0	0	1	13747	1136	40	1		1	RUNX1T1	8	93017373	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	18076092	93017373	53346649	22	6818											
DENND3	22898	broad.mit.edu	37	chr8	142186755	142186755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaaaatcagagtggcGtccaagaaagaagtcttcga	16	9	9	7	2	2	3	1	0	1	3	4	4	3	3	1	1	0	0	1	1	6	3	rs570647400		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:142186755G>A	ENST00000262585.2	+	15	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_ENST00000519811.1_Silent_p.A867A|DENND3_ENST00000424248.1_Silent_p.A735A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	787					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		20351	0		0	False		,,,				2504	0					uc003yvy.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2359-2361)gcG>gcA		Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.							106	98	101					8																	142186755		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142186755G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2361G>A	8.37:g.142186755G>A						DENND3_uc010mep.3_Silent_p.A748A	p.A787A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		14	2639	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		787					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2361G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024549	0.07589	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.23	-0.288	0.12855	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	-19.3008	0.7227	0.00943	0.4156:0.1541:0.2497:0.1806	.	.	.	.	I	792	.	.	V	+	1	0	DENND3	142255937	0.000000	0.05858	0.138000	0.22173	0.527000	0.34593	-0.515000	0.06290	0.203000	0.20529	-0.143000	0.13931	GTC		0.483	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142186755	G	A	142186755	2	1	100	1	0	0	0	0	0	0	0	1	4432	1132	40	1		1	DENND3	8	142186755	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	49169382	142186755	4177267	23	6819											
EPPK1	83481	broad.mit.edu	37	chr8	144945189	144945189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgaagtagccgcgccGgtaggccacgtccacgggca	8	5	14	14	6	0	1	0	1	0	0	2	2	1	1	4	3	1	3	4	3	3	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:144945189G>A	ENST00000525985.1	-	2	2304	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W				P58107	EPIPL_HUMAN	epiplakin 1	745						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACG	0.652																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2233-2235)Cgg>Tgg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							84	91	89					8																	144945189		2053	4178	6231	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945189G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2233C>T	8.37:g.144945189G>A	ENSP00000436337:p.Arg745Trp						p.R745W	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	2246	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		745					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2233C>T		.	.	.	.	.	.	.	.	.	.	G	17.64	3.440410	0.63067	.	.	ENSG00000227184	ENST00000525985	T	0.76578	-1.03	5.06	0.61	0.17580	.	.	.	.	.	T	0.76608	0.4011	L	0.55990	1.75	0.25697	N	0.985624	D	0.76494	0.999	P	0.51229	0.663	T	0.66316	-0.5954	9	0.72032	D	0.01	.	7.8763	0.29595	0.0:0.1489:0.3006:0.5505	.	745	E9PPU0	.	W	745	ENSP00000436337:R745W	ENSP00000436337:R745W	R	-	1	2	EPPK1	145017177	0.811000	0.29063	0.988000	0.46212	0.635000	0.38103	0.204000	0.17335	0.251000	0.21505	0.655000	0.94253	CGG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144945189	G	A	144945189	3	1	100	1	0	0	0	0	1	0	0	0	5190	1115	39	2	5033	2	EPPK1	8	144945189	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	2758434	144945189	1418833	24	6820											
SH3GL2	6456	broad.mit.edu	37	chr9	17791242	17791242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagattgaacaagtgaGccagctctctgcacttgtgc	9	11	10	11	0	2	3	0	2	2	1	3	3	2	3	1	0	6	3	1	0	2	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:17791242G>A	ENST00000380607.4	+	7	758	c.638G>A	c.(637-639)aGc>aAc	p.S213N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.S166N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	213	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GAACAAGTGAGCCAGCTCTCT	0.478																																						uc003zna.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(637-639)aGc>aAc		Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.							137	121	127					9																	17791242		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17791242G>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.638G>A	9.37:g.17791242G>A	ENSP00000369981:p.Ser213Asn					SH3GL2_uc011lmy.2_Missense_Mutation_p.S166N	p.S213N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	6	926	+			213			BAR.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.638G>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137861	0.56936	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.62105	0.05;0.05	5.61	5.61	0.85477	BAR (3);	0.097038	0.64402	D	0.000003	T	0.70090	0.3184	M	0.84433	2.695	0.80722	D	1	B	0.10296	0.003	B	0.17722	0.019	T	0.68492	-0.5394	10	0.54805	T	0.06	.	19.6426	0.95764	0.0:0.0:1.0:0.0	.	213	Q99962	SH3G2_HUMAN	N	42;191;213;166	ENSP00000369981:S213N;ENSP00000443365:S166N	ENSP00000369981:S213N	S	+	2	0	SH3GL2	17781242	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.755000	0.85180	2.650000	0.89964	0.655000	0.94253	AGC		0.478	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		A	17791242	G	A	17791242	3	1	100	1	0	0	0	0	1	0	0	0	14251	971	34	3	664	3	SH3GL2	9	17791242	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		17791242	123422189	25	6821											
CYLC2	1539	broad.mit.edu	37	chr9	105767006	105767006	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacaattaagaggagaTcgtagacaaccattatggat	18	8	10	5	1	0	4	0	0	0	4	1	7	0	5	1	2	2	1	1	2	7	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:105767006T>C	ENST00000374798.3	+	4	280	c.210T>C	c.(208-210)gaT>gaC	p.D70D	CYLC2_ENST00000487798.1_Silent_p.D70D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	70	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAAGAGGAGATCGTAGACAAC	0.358																																						uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(208-210)gaT>gaC		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							77	75	76					9																	105767006		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767006T>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.210T>C	9.37:g.105767006T>C							p.D70D	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	280	+		all_hematologic(171;0.125)	70			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.210T>C	CCDS35085.1																																																																																				0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		C	105767006	T	C	105767006	2	2	100	1	0	0	0	0	0	0	0	1	4142	1432	50	4		4	CYLC2	9	105767006	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	87975764	105767006	35446425	26	6822											
OR9I1	219954	broad.mit.edu	37	chr11	57886023	57886023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgacctttctgaaggcgtcTtttacatctttgtttcttaa	7	18	7	9	2	4	1	0	1	4	0	4	2	4	1	1	1	1	1	1	1	3	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:57886023T>A	ENST00000302610.1	-	1	893	c.894A>T	c.(892-894)aaA>aaT	p.K298N	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGAAGGCGTCTTTTACATCTT	0.438																																						uc001nml.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(892-894)aaA>aaT		Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.							125	129	128					11																	57886023		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886023T>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.894A>T	11.37:g.57886023T>A	ENSP00000302606:p.Lys298Asn					OR9Q1_uc001nmj.3_Intron	p.K298N	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			0	894	-		Breast(21;0.0589)	298					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.894A>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137158	0.37728	.	.	ENSG00000172377	ENST00000302610	T	0.40756	1.02	4.97	-5.24	0.02789	.	0.279947	0.25347	N	0.031327	T	0.33585	0.0868	M	0.66297	2.02	0.09310	N	0.999998	B	0.11235	0.004	B	0.09377	0.004	T	0.24977	-1.0145	10	0.66056	D	0.02	-8.5288	8.9249	0.35634	0.1097:0.4847:0.0:0.4056	.	298	Q8NGQ6	OR9I1_HUMAN	N	298	ENSP00000302606:K298N	ENSP00000302606:K298N	K	-	3	2	OR9I1	57642599	0.000000	0.05858	0.017000	0.16124	0.006000	0.05464	-2.295000	0.01143	-1.118000	0.02961	-0.456000	0.05471	AAA		0.438	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		A	57886023	T	A	57886023	3	1	100	1	0	0	0	0	1	0	0	0	11253	1606	56	5	54	5	OR9I1	11	57886023	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		57886023	77120493	27	6823											
C11orf20	25858	broad.mit.edu	37	chr11	64070987	64070987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcatcactcaatattgCgaagcacatgccccatcgag	13	9	7	12	2	3	0	3	0	0	0	4	2	3	0	2	0	3	1	2	0	4	2	rs376949802		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:64070987C>T	ENST00000328404.6	+	3	406	c.386C>T	c.(385-387)gCg>gTg	p.A129V	RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000405666.1_5'Flank|TEX40_ENST00000539943.1_Missense_Mutation_p.A87V|ESRRA_ENST00000406310.1_5'Flank|ESRRA_ENST00000000442.6_5'Flank	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	129					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											CTCAATATTGCGAAGCACATG	0.552																																						uc009ypm.3																			0				kidney(1)	1						c.(385-387)gCg>gTg		Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.		C	VAL/ALA	0,4032		0,0,2016	60	62	61		386	-7.5	0	11		61	2,8346		0,2,4172	no	missense	C11orf20	NM_001039496.1	64	0,2,6188	TT,TC,CC		0.024,0.0,0.0162	possibly-damaging	129/201	64070987	2,12378	2016	4174	6190	SO:0001583	missense	25858				cell differentiation|spermatogenesis	cytoplasm		g.chr11:64070987C>T			11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 20"	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820	ENST00000328404.6:c.386C>T	11.37:g.64070987C>T	ENSP00000330877:p.Ala129Val					KCNK4_uc001nzm.4_Non-coding_Transcript|ESRRA_uc001nzq.1_5'Flank|ESRRA_uc001nzr.1_5'Flank|ESRRA_uc001nzs.1_5'Flank	p.A129V	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN			2	1451	+			129						Missense_Mutation	SNP	ENST00000328404.6	37	c.386C>T		.	.	.	.	.	.	.	.	.	.	C	5.606	0.296518	0.10622	0.0	2.4E-4	ENSG00000219435	ENST00000328404;ENST00000539943	T;T	0.45276	0.9;0.9	3.76	-7.51	0.01346	.	.	.	.	.	T	0.13372	0.0324	N	0.14661	0.345	0.09310	N	1	P	0.38863	0.65	B	0.26094	0.066	T	0.16453	-1.0402	9	0.22706	T	0.39	0.4098	2.1101	0.03701	0.1163:0.1885:0.23:0.4652	.	129	Q9NTU4	CK020_HUMAN	V	129;87	ENSP00000330877:A129V;ENSP00000443917:A87V	ENSP00000330877:A129V	A	+	2	0	C11orf20	63827563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.760000	0.01806	-1.949000	0.01031	-0.224000	0.12420	GCG		0.552	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039496		T	64070987	C	T	64070987	3	4	100	1	0	0	0	0	1	0	0	0	1634	768	27	1	396	1	C11orf20	11	64070987	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	6184964	64070987	70935529	28	6824											
OR10G8	219869	broad.mit.edu	37	chr11	123901241	123901243	+	In_Frame_Del	DEL	AGT	AGT	-																															ctgttgaagctgaaagacaaAgtagcacattctcagagcaa																										TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:123901241_123901243delAGT	ENST00000431524.1	+	1	945_947	c.912_914delAGT	c.(910-915)aaagta>aaa	p.V305del		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAAAGACAAAGTAGCACATTCT	0.448																																						uc001pzp.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(910-915)aaagta>aaa		Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.																																				SO:0001651	inframe_deletion	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901241_123901243delAGT	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.912_914delAGT	11.37:g.123901241_123901243delAGT	ENSP00000389072:p.Val305del						p.V305del	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	912_914	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	305					B2RNJ3|Q6IEV2	In_Frame_Del	DEL	ENST00000431524.1	37	c.912_914delAGT	CCDS31704.1																																																																																				0.448	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		-	123901243	AGT	-	123901241	7	5	100	1	0	1	0	1	0	0	0	0	10903	69	3	0	914	0	OR10G8	11	123901241	In_Frame_Del	DEL	AGT	TCGA-06-6390-01A-11D-1696-08	59830254	123901241	11105275	29	6825											
KIRREL3	84623	broad.mit.edu	37	chr11	126299112	126299112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtgctcctcaccctcccGaccagaggctggttccttgt	5	10	11	15	1	1	1	1	0	0	1	4	3	4	2	5	3	1	3	5	3	0	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:126299112G>A	ENST00000525144.2	-	15	2017	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	KIRREL3_ENST00000416561.2_Missense_Mutation_p.R57W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R578W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	590					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R590R(1)|p.R549R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCACCCTCCCGACCAGAGGCT	0.488																																						uc001qea.3																			2	Substitution - coding silent(2)	p.R590R(1)|p.R549R(1)	lung(2)	central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1768-1770)Cgg>Tgg		Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.							85	94	91					11																	126299112		1973	4152	6125	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126299112G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1768C>T	11.37:g.126299112G>A	ENSP00000435466:p.Arg590Trp					KIRREL3_uc001qeb.3_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron	p.R590W	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	14	2129	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	590					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1768C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289320	0.59976	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;D	0.81659	-0.95;-0.7;-1.52	5.66	3.57	0.40892	.	0.068700	0.56097	D	0.000025	D	0.85839	0.5790	L	0.50333	1.59	0.46849	D	0.999221	D;D	0.89917	1.0;1.0	P;D	0.76071	0.874;0.987	D	0.87072	0.2160	10	0.72032	D	0.01	-14.6566	13.4882	0.61379	0.0:0.0:0.5678:0.4322	.	578;590	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	W	590;578;57	ENSP00000435466:R590W;ENSP00000434081:R578W;ENSP00000408692:R57W	ENSP00000408692:R57W	R	-	1	2	KIRREL3	125804322	0.993000	0.37304	0.972000	0.41901	0.614000	0.37383	2.095000	0.41729	1.361000	0.45981	0.561000	0.74099	CGG		0.488	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126299112	G	A	126299112	3	1	100	1	0	0	0	0	1	0	0	0	8326	1057	37	2	580	2	KIRREL3	11	126299112	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	2397871	126299112	8707404	30	6826											
TAS2R20	259295	broad.mit.edu	37	chr12	11150018	11150018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacattcttctgtccacaCatttatatacgtgtgtttca	9	18	4	10	1	4	0	2	0	2	0	5	0	5	0	1	0	1	1	1	0	3	8			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:11150018C>G	ENST00000538986.1	-	1	456	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	153					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTGTCCACACATTTATATAC	0.398																																						uc001qzm.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(457-459)Gtg>Ctg		Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.							164	145	151					12																	11150018		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150018C>G	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.457G>C	12.37:g.11150018C>G	ENSP00000441624:p.Val153Leu					PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.V153L	NM_176889	NP_795370	P59543	T2R20_HUMAN			0	457	-			153					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.457G>C	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	7.558	0.664163	0.14710	.	.	ENSG00000255837	ENST00000538986	T	0.38560	1.13	2.93	-3.48	0.04739	.	2.512010	0.02062	U	0.050837	T	0.35335	0.0928	L	0.45581	1.43	0.09310	N	1	B	0.14012	0.009	B	0.23852	0.049	T	0.18304	-1.0341	10	0.37606	T	0.19	.	5.3003	0.15773	0.0:0.4561:0.1563:0.3876	.	153	P59543	T2R20_HUMAN	L	153	ENSP00000441624:V153L	ENSP00000441624:V153L	V	-	1	0	TAS2R20	11041285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.558000	0.05978	-0.895000	0.03920	-0.229000	0.12294	GTG		0.398	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		G	11150018	C	G	11150018	3	3	100	1	0	0	0	0	1	0	0	0	15568	478	17	5	476	5	TAS2R20	12	11150018	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		11150018	122701877	31	6827											
EPS8	2059	broad.mit.edu	37	chr12	15807133	15807133	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctgccgttcatcaccaTtgacagtataatttaagaaa	15	11	6	9	1	2	2	2	1	0	1	2	2	2	2	2	0	2	3	2	0	4	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:15807133T>C	ENST00000281172.5	-	13	1632	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	EPS8_ENST00000543523.1_Missense_Mutation_p.N399S|EPS8_ENST00000543612.1_Missense_Mutation_p.N399S|EPS8_ENST00000540613.1_Missense_Mutation_p.N139S|EPS8_ENST00000542903.1_Missense_Mutation_p.N139S	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399	PH; second part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCATCACCATTGACAGTATA	0.418																																						uc009zif.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1195-1197)aAt>aGt		Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.							130	109	116					12																	15807133		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807133T>C	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1196A>G	12.37:g.15807133T>C	ENSP00000281172:p.Asn399Ser					EPS8_uc001rdb.3_Missense_Mutation_p.N399S|EPS8_uc009zig.3_Missense_Mutation_p.N139S|EPS8_uc010shv.2_Missense_Mutation_p.N139S	p.N399S	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	12	1290	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	399			PH; second part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1196A>G	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.598859	0.13939	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.66	-8.82	0.00810	.	0.536822	0.19874	N	0.104140	T	0.10508	0.0257	N	0.16790	0.44	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.06215	-1.0839	10	0.35671	T	0.21	-5.8928	9.4689	0.38831	0.0:0.3933:0.3049:0.3017	.	399	Q12929	EPS8_HUMAN	S	399;399;399;139;139;399	ENSP00000441867:N399S;ENSP00000281172:N399S;ENSP00000442388:N399S;ENSP00000441888:N139S;ENSP00000437806:N139S	ENSP00000281172:N399S	N	-	2	0	EPS8	15698400	0.000000	0.05858	0.000000	0.03702	0.796000	0.44982	-1.031000	0.03578	-1.908000	0.01086	-0.456000	0.05471	AAT		0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			C	15807133	T	C	15807133	3	2	100	1	0	0	0	0	1	0	0	0	5194	1493	52	4	1308	4	EPS8	12	15807133	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	4657115	15807133	118044762	32	6828											
PA2G4	5036	broad.mit.edu	37	chr12	56501039	56501039	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtggttgatgtagctcAggtaggtggcctgcttttga	5	17	14	5	0	1	2	1	2	0	0	1	2	1	2	1	4	2	5	1	4	2	7			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:56501039A>G	ENST00000303305.6	+	4	811	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	PA2G4_ENST00000552766.1_Splice_Site_p.Q131R|RP11-603J24.9_ENST00000548861.1_Splice_Site_p.Q112R|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	131					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GATGTAGCTCAGGTAGGTGGC	0.488																																						uc001sjm.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.e4+1		Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.							234	210	218					12																	56501039		2203	4300	6503	SO:0001630	splice_region_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56501039A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.393+1A>G	12.37:g.56501039A>G							p.Q131_splice	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		4	812	+			131					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.393_splice	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355756	0.41700	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	.	.	.	4.86	3.71	0.42584	Peptidase M24, structural domain (3);	0.250843	0.45606	D	0.000354	T	0.53318	0.1789	L	0.59436	1.845	0.80722	D	1	B;B;B	0.16802	0.019;0.002;0.003	B;B;B	0.20577	0.03;0.009;0.015	T	0.42582	-0.9443	9	0.11485	T	0.65	.	10.2648	0.43449	0.852:0.0:0.0:0.148	.	131;131;131	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	R	112;131;131;160;131;131;120	.	ENSP00000302886:Q131R	Q	+	2	0	PA2G4;RP11-603J24.9	54787306	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.149000	0.58091	0.866000	0.35629	0.533000	0.62120	CAG		0.488	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191	Missense_Mutation	G	56501039	A	G	56501039	5	3	100	1	0	0	0	0	0	0	1	0	11361	202	7	4	406	4	PA2G4	12	56501039	Splice_Site	SNP	A	TCGA-06-6390-01A-11D-1696-08	40693906	56501039	77350856	33	6829											
USP15	9958	broad.mit.edu	37	chr12	62778015	62778015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttacttgacacttccattgCccatgaaaaaagaacgcacc	14	9	6	12	1	0	3	0	2	0	1	1	3	1	3	3	0	3	2	3	0	5	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:62778015C>G	ENST00000280377.5	+	11	1463	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	USP15_ENST00000353364.3_Missense_Mutation_p.P440A|USP15_ENST00000393654.3_Missense_Mutation_p.P444A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	469	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTTCCATTGCCCATGAAAAA	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1405-1407)Ccc>Gcc		Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.							86	80	82					12																	62778015		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62778015C>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1405C>G	12.37:g.62778015C>G	ENSP00000280377:p.Pro469Ala					USP15_uc001srb.2_Missense_Mutation_p.P440A	p.P469A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1480	+			469					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1405C>G	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571798	0.86542	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.37411	3.9;3.9;1.2	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.59456	-0.7451	9	.	.	.	-6.5573	18.8461	0.92208	0.0:1.0:0.0:0.0	.	469;440	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	A	440;469;444	ENSP00000258123:P440A;ENSP00000280377:P469A;ENSP00000377264:P444A	.	P	+	1	0	USP15	61064282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.690000	0.91761	0.655000	0.94253	CCC		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		G	62778015	C	G	62778015	3	3	100	1	0	0	0	0	1	0	0	0	17043	739	26	5	1356	5	USP15	12	62778015	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	6276976	62778015	71073880	34	6830											
NAV3	89795	broad.mit.edu	37	chr12	78415582	78415582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggctgactcctgtaccagtCctacaaagatggacttatca	11	10	8	12	1	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	4	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:78415582C>G	ENST00000397909.2	+	9	2136	c.1963C>G	c.(1963-1965)Cct>Gct	p.P655A	NAV3_ENST00000228327.6_Missense_Mutation_p.P655A|NAV3_ENST00000266692.7_Missense_Mutation_p.P655A|NAV3_ENST00000536525.2_Missense_Mutation_p.P655A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	655						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGTACCAGTCCTACAAAGAT	0.413										HNSCC(70;0.22)																												uc001syp.3																			0		p.S654R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1963-1965)Cct>Gct		Homo sapiens neuron navigator 3 (NAV3), mRNA.							109	110	110					12																	78415582		2025	4207	6232	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78415582C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1963C>G	12.37:g.78415582C>G	ENSP00000381007:p.Pro655Ala	HNSCC(70;0.22)				NAV3_uc001syo.3_Missense_Mutation_p.P655A	p.P655A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	2136	+			655					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1963C>G		.	.	.	.	.	.	.	.	.	.	C	12.01	1.810715	0.32053	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.46	5.46	0.80206	.	0.000000	0.40064	U	0.001195	T	0.32734	0.0839	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.00961	-1.1499	10	0.23302	T	0.38	-10.9948	19.3278	0.94270	0.0:1.0:0.0:0.0	.	655;655	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	A	655	ENSP00000446628:P655A;ENSP00000446132:P655A;ENSP00000381007:P655A;ENSP00000228327:P655A;ENSP00000266692:P655A	ENSP00000228327:P655A	P	+	1	0	NAV3	76939713	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.464000	0.73534	2.576000	0.86940	0.655000	0.94253	CCT		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78415582	C	G	78415582	3	3	100	1	0	0	0	0	1	0	0	0	10185	855	30	5	1997	5	NAV3	12	78415582	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	15637567	78415582	55436313	35	6831											
TPTE2	93492	broad.mit.edu	37	chr13	20039678	20039678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttatcagaataataagtCgtagaagtcgaactaaatgt	16	13	7	5	2	2	2	1	0	1	2	4	3	2	2	0	0	1	1	0	0	9	6	rs555974519	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:20039678C>T	ENST00000400230.2	-	8	583	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE2_ENST00000382977.4_Missense_Mutation_p.R180Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R140Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R69Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R69Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R140Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R103Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R103Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	180					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAATAAGTCGTAGAAGTCG	0.313													c|||	2	0.000399361	0	0	5008	,	,		18882	0.001		0	False		,,,				2504	0.001					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(538-540)cGa>cAa		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							39	37	38					13																	20039678		2200	4299	6499	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039678C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.539G>A	13.37:g.20039678C>T	ENSP00000383089:p.Arg180Gln					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R69Q|TPTE2_uc001ume.3_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R180Q	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	750	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	180					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.539G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.426882	0.43020	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98617	-5.03;-3.84;-5.03;-5.03;-5.03;-5.03;-5.03;-3.84	2.79	1.02	0.19986	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98748	0.9579	M	0.86864	2.845	0.18873	N	0.999989	P;D;D	0.89917	0.48;0.99;1.0	B;P;D	0.80764	0.034;0.735;0.994	D	0.95149	0.8271	9	.	.	.	-4.2096	4.8643	0.13600	0.0:0.6991:0.0:0.3009	.	69;103;180	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	140;69;180;103;103;180;140;69;180;49	ENSP00000372438:R140Q;ENSP00000382974:R69Q;ENSP00000383089:R180Q;ENSP00000255310:R103Q;ENSP00000375098:R103Q;ENSP00000372437:R180Q;ENSP00000372435:R140Q;ENSP00000442218:R69Q	.	R	-	2	0	TPTE2	18937678	1.000000	0.71417	0.001000	0.08648	0.005000	0.04900	4.605000	0.61119	0.231000	0.21079	-0.373000	0.07131	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		T	20039678	C	T	20039678	3	4	100	1	0	0	0	0	1	0	0	0	16428	884	31	2	1081	2	TPTE2	13	20039678	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		20039678	95130200	36	6832											
SACS	26278	broad.mit.edu	37	chr13	23908157	23908157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggttggctgaaacagtAaactttgttcctggaagcaa	12	11	11	7	0	0	1	0	1	0	0	1	2	1	2	1	3	4	6	1	3	5	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:23908157A>C	ENST00000382292.3	-	9	10131	c.9858T>G	c.(9856-9858)ttT>ttG	p.F3286L	SACS_ENST00000382298.3_Missense_Mutation_p.F3286L|SACS_ENST00000402364.1_Missense_Mutation_p.F2536L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3286					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAAACAGTAAACTTTGTTC	0.408																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(9856-9858)ttT>ttG		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							98	86	90					13																	23908157		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908157A>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9858T>G	13.37:g.23908157A>C	ENSP00000371729:p.Phe3286Leu					SACS_uc001uoo.2_Missense_Mutation_p.F3139L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.F3286L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	10447	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3286					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9858T>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336509	0.60963	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87179	-2.06;-2.22;-2.06	5.45	0.287	0.15714	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	L	0.27053	0.805	0.34512	D	0.707238	D	0.54207	0.965	P	0.50314	0.637	T	0.78165	-0.2310	10	0.11794	T	0.64	.	10.7762	0.46350	0.5839:0.0:0.4161:0.0	.	3286	Q9NZJ4	SACS_HUMAN	L	3286;2536;3286	ENSP00000371729:F3286L;ENSP00000385844:F2536L;ENSP00000371735:F3286L	ENSP00000371729:F3286L	F	-	3	2	SACS	22806157	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.982000	0.29539	-0.086000	0.12550	0.454000	0.30748	TTT		0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23908157	A	C	23908157	3	2	100	1	0	0	0	0	1	0	0	0	13804	359	13	5	3885	5	SACS	13	23908157	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	3868479	23908157	91261721	37	6833											
SPATA13	221178	broad.mit.edu	37	chr13	24871773	24871773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagtaggaccacagaCgaggtttatttgttttgtgc	8	14	11	8	2	1	1	1	0	0	1	2	3	1	2	1	2	1	3	1	2	2	6	rs368299819		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:24871773C>T	ENST00000382095.4	+	10	2015	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	SPATA13_ENST00000399949.2_Silent_p.D458D|SPATA13_ENST00000409126.1_Silent_p.D396D|RP11-307N16.6_ENST00000382141.4_Silent_p.D1039D|SPATA13_ENST00000424834.2_Silent_p.D1161D|SPATA13_ENST00000343003.6_Silent_p.D480D|SPATA13_ENST00000382108.3_Silent_p.D1161D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	536	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCACAGACGAGGTTTATT	0.532													c|||	1	0.000199681	8e-04	0	5008	,	,		21492	0		0	False		,,,				2504	0					uc001upd.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(3481-3483)gaC>gaT		Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.		T	,	2,4404	4.2+/-10.8	0,2,2201	77	77	77		3483,1608	-9.6	0	13		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	1161/1278,536/653	24871773	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24871773C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1608C>T	13.37:g.24871773C>T						SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.D1161D|SPATA13_uc001upg.2_Silent_p.D536D|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.2_Silent_p.D420D|SPATA13_uc010tdb.2_Silent_p.D396D|SPATA13_uc010tda.2_Silent_p.D480D|SPATA13_uc001uph.3_Silent_p.D458D|SPATA13_uc009zzz.2_Intron|SPATA13_uc001upi.1_Silent_p.D42D	p.D1161D	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	12	4061	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	536					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.3483C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.549699	0.00926	4.54E-4	1.16E-4	ENSG00000182957	ENST00000424834	.	.	.	4.79	-9.58	0.00559	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.5791	0.04814	0.1859:0.1895:0.1387:0.486	.	.	.	.	X	1199	.	.	R	+	1	2	SPATA13	23769773	0.003000	0.15002	0.001000	0.08648	0.016000	0.09150	-1.955000	0.01523	-2.319000	0.00643	-2.131000	0.00343	CGA		0.532	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		T	24871773	C	T	24871773	2	4	100	1	0	0	0	0	0	0	0	1	14999	535	19	1		1	SPATA13	13	24871773	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	963616	24871773	90298105	38	6834											
SLC46A3	283537	broad.mit.edu	37	chr13	29287613	29287613	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatagacaaaagtatgaaTgtagacactagaccaggaat	19	8	8	6	0	0	4	0	1	0	3	0	5	0	5	1	1	0	2	1	1	9	5			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:29287613T>A	ENST00000266943.6	-	3	633	c.264A>T	c.(262-264)acA>acT	p.T88T	SLC46A3_ENST00000380814.4_Silent_p.T88T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	88					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T88T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGTATGAATGTAGACACTA	0.378																																						uc001usj.3																			2	Substitution - coding silent(2)	p.T88T(3)	endometrium(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(262-264)acA>acT		Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.							62	59	60					13																	29287613		2203	4300	6503	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287613T>A		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.264A>T	13.37:g.29287613T>A						SLC46A3_uc001usg.3_Silent_p.T13T|SLC46A3_uc001usi.3_Silent_p.T88T|SLC46A3_uc001ush.3_Silent_p.T88T|SLC46A3_uc001usk.3_Silent_p.T13T	p.T88T	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	806	-		Lung SC(185;0.0367)	88					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.264A>T	CCDS9332.1																																																																																				0.378	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		A	29287613	T	A	29287613	2	1	100	1	0	0	0	0	0	0	0	1	14646	1451	51	5		5	SLC46A3	13	29287613	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	4415840	29287613	85882265	39	6835											
VPS18	57617	broad.mit.edu	37	chr15	41191638	41191638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcacctgtgtgctccCttgaggccgagcggggccct	4	8	14	15	2	0	1	0	1	0	0	2	2	2	1	5	3	3	2	5	3	0	1	rs267604184		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:41191638C>T	ENST00000220509.5	+	4	961	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	208					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTGTGCTCCCTTGAGGCCGA	0.617																																						uc001zne.3																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(622-624)Ctt>Ttt		Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.							66	71	69					15																	41191638		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191638C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.622C>T	15.37:g.41191638C>T	ENSP00000220509:p.Leu208Phe						p.L208F	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	3	961	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	208					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.622C>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818381	0.32145	.	.	ENSG00000104142	ENST00000220509	T	0.49720	0.77	4.74	2.71	0.32032	.	0.069382	0.64402	D	0.000018	T	0.53562	0.1804	M	0.71036	2.16	0.80722	D	1	P	0.42556	0.783	P	0.50970	0.655	T	0.52975	-0.8503	10	0.44086	T	0.13	-18.409	7.2332	0.26055	0.1411:0.6903:0.0:0.1685	.	208	Q9P253	VPS18_HUMAN	F	208	ENSP00000220509:L208F	ENSP00000220509:L208F	L	+	1	0	VPS18	38978930	0.256000	0.24012	0.966000	0.40874	0.767000	0.43475	0.350000	0.20079	1.342000	0.45619	0.655000	0.94253	CTT		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			T	41191638	C	T	41191638	3	4	100	1	0	0	0	0	1	0	0	0	17191	681	24	3	636	3	VPS18	15	41191638	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		41191638	61339754	40	6836											
UBR1	197131	broad.mit.edu	37	chr15	43317593	43317593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttcatctttgtttTcttgttttctccttttcttc	2	27	2	10	0	5	0	1	0	4	0	7	0	5	0	2	0	1	2	2	0	1	12			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:43317593T>C	ENST00000290650.4	-	24	2648	c.2570A>G	c.(2569-2571)gAa>gGa	p.E857G	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	857					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCTTTGTTTTCTTGTTTTCT	0.299																																						uc001zqq.3																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(2569-2571)gAa>gGa		Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.							186	158	167					15																	43317593		2197	4297	6494	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43317593T>C		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2570A>G	15.37:g.43317593T>C	ENSP00000290650:p.Glu857Gly					UBR1_uc010udk.1_Missense_Mutation_p.E857G	p.E857G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	23	2636	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	857					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.2570A>G	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349022	0.82132	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.50813	0.73	5.19	5.19	0.71726	.	0.110120	0.64402	D	0.000008	T	0.44477	0.1295	M	0.61703	1.905	0.80722	D	1	B;B	0.26120	0.142;0.1	B;B	0.23150	0.044;0.033	T	0.34329	-0.9833	10	0.23891	T	0.37	-22.6566	13.568	0.61830	0.0:0.0:0.0:1.0	.	857;857	B4DYL2;Q8IWV7	.;UBR1_HUMAN	G	857	ENSP00000290650:E857G	ENSP00000290650:E857G	E	-	2	0	UBR1	41104885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.572000	0.60886	2.089000	0.63090	0.533000	0.62120	GAA		0.299	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43317593	T	C	43317593	3	2	100	1	0	0	0	0	1	0	0	0	16898	1783	62	4	2775	4	UBR1	15	43317593	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	2125955	43317593	59213799	41	6837											
GABPB1	2553	broad.mit.edu	37	chr15	50593079	50593079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagagtttccaaactgaaCagcagatacacccgtttcat	15	9	7	10	1	1	4	1	1	0	3	2	4	2	4	2	0	4	3	2	0	4	3	rs147105901	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:50593079C>T	ENST00000220429.8	-	6	808	c.640G>A	c.(640-642)Gtt>Att	p.V214I	GABPB1_ENST00000380877.3_Missense_Mutation_p.V202I|GABPB1_ENST00000359031.4_Missense_Mutation_p.V202I|GABPB1_ENST00000429662.2_Missense_Mutation_p.V214I|GABPB1_ENST00000543881.1_Missense_Mutation_p.V138I|GABPB1_ENST00000560825.1_Missense_Mutation_p.V202I|GABPB1_ENST00000396464.3_Missense_Mutation_p.V202I			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	214					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCAAACTGAACAGCAGATACA	0.348																																						uc001zyb.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(640-642)Gtt>Att		Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.							92	89	90					15																	50593079		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50593079C>T	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.640G>A	15.37:g.50593079C>T	ENSP00000220429:p.Val214Ile					GABPB1_uc001zya.3_Missense_Mutation_p.V202I|GABPB1_uc010ufg.2_Missense_Mutation_p.V138I|GABPB1_uc001zyd.3_Missense_Mutation_p.V202I|GABPB1_uc001zye.3_Missense_Mutation_p.V214I|GABPB1_uc001zyf.3_Missense_Mutation_p.V202I|GABPB1_uc001zyc.3_Missense_Mutation_p.V202I	p.V214I	NM_005254	NP_005245	Q06547	GABP1_HUMAN			5	1064	-			214					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.640G>A	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138360	0.77775	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.67698	0.72;-0.22;-0.28;-0.22	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	T	0.72914	0.3520	N	0.22421	0.69	0.51767	D	0.999931	P;B;P;P;P	0.44690	0.841;0.162;0.756;0.841;0.756	P;B;P;P;P	0.61722	0.846;0.058;0.893;0.846;0.893	T	0.74654	-0.3593	10	0.62326	D	0.03	-19.251	19.9207	0.97085	0.0:1.0:0.0:0.0	.	214;214;202;214;202	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	I	202;214;138;202;214;202	ENSP00000442500:V138I;ENSP00000379728:V202I;ENSP00000395771:V214I;ENSP00000351923:V202I	ENSP00000220429:V202I	V	-	1	0	GABPB1	48380371	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.025000	0.70864	2.708000	0.92522	0.644000	0.83932	GTT		0.348	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			T	50593079	C	T	50593079	3	4	100	1	0	0	0	0	1	0	0	0	6158	478	17	3	611	3	GABPB1	15	50593079	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	7275486	50593079	51938313	42	6838											
MEFV	4210	broad.mit.edu	37	chr16	3299649	3299649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcagccaggtgagcGgctgcctgaggcctgggggt	4	5	21	11	2	0	2	0	2	0	0	0	2	0	2	4	7	3	2	4	7	0	0			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:3299649G>A	ENST00000219596.1	-	3	1081	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	MEFV_ENST00000536379.1_Missense_Mutation_p.R137C|MEFV_ENST00000541159.1_Missense_Mutation_p.R137C|MEFV_ENST00000339854.4_Missense_Mutation_p.R168C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCAGGTGAGCGGCTGCCTGAG	0.657																																						uc002cun.1																			0		p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1042-1044)Cgc>Tgc		Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	Colchicine(DB01394)						25	28	27					16																	3299649		2196	4300	6496	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299649G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1042C>T	16.37:g.3299649G>A	ENSP00000219596:p.Arg348Cys					MEFV_uc021tbw.1_Missense_Mutation_p.R137C|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	p.R348C	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	1082	-			348					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1042C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803800	0.16467	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65732	-0.17;0.26;0.14;0.28	4.11	-4.58	0.03410	.	2.533260	0.01059	N	0.004617	T	0.31796	0.0808	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24512	-1.0158	10	0.42905	T	0.14	-27.6587	5.7152	0.17956	0.5456:0.0:0.3149:0.1395	.	348	O15553	MEFV_HUMAN	C	348;348;168;137;137;137	ENSP00000219596:R348C;ENSP00000339639:R168C;ENSP00000438711:R137C;ENSP00000445079:R137C	ENSP00000219596:R348C	R	-	1	0	MEFV	3239650	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	-0.896000	0.03915	-1.051000	0.02340	CGC		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		A	3299649	G	A	3299649	3	1	100	1	0	0	0	0	1	0	0	0	9459	1116	39	2	1335	2	MEFV	16	3299649	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		3299649	87055104	43	6839											
IL21R	50615	broad.mit.edu	37	chr16	27460197	27460197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctacccagccctggacCtggatgctggcctggagccc	6	6	13	16	1	0	0	0	0	0	0	0	3	0	3	5	5	4	2	5	5	1	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:27460197C>A	ENST00000337929.3	+	9	1683	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	IL21R_ENST00000564089.1_Missense_Mutation_p.L404M|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.L404M|IL21R_ENST00000395755.1_Missense_Mutation_p.L404M	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	404					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCCCTGGACCTGGATGCTGG	0.632			T	BCL6	NHL																																	uc002dor.2				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1276-1278)Ctg>Atg		Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.							49	52	51					16																	27460197		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460197C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1210C>A	16.37:g.27460197C>A	ENSP00000338010:p.Leu404Met					IL21R_uc002doq.2_Missense_Mutation_p.L404M|IL21R_uc002dos.2_Missense_Mutation_p.L404M|LOC283888_uc002dot.3_Non-coding_Transcript	p.L426M	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN			9	1824	+			404					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1276C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055113	0.55325	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.52754	0.65;0.65;0.65	5.19	3.18	0.36537	.	0.000000	0.35495	N	0.003169	T	0.61590	0.2359	M	0.67953	2.075	0.30814	N	0.738508	D	0.89917	1.0	D	0.76575	0.988	T	0.62914	-0.6753	10	0.66056	D	0.02	-16.5925	7.6965	0.28598	0.0:0.8043:0.0:0.1957	.	404	Q9HBE5	IL21R_HUMAN	M	404	ENSP00000338010:L404M;ENSP00000379104:L404M;ENSP00000379103:L404M	ENSP00000338010:L404M	L	+	1	2	IL21R	27367698	0.035000	0.19736	1.000000	0.80357	0.636000	0.38137	0.034000	0.13776	0.535000	0.28714	0.561000	0.74099	CTG		0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27460197	C	A	27460197	3	1	100	1	0	0	0	0	1	0	0	0	7671	680	24	5	1240	5	IL21R	16	27460197	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	24160548	27460197	62894556	44	6840											
CLEC10A	10462	broad.mit.edu	37	chr17	6978469	6978469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccacctgccgtctggatgGaagtgagcacagtcctcgcc	7	9	11	14	2	1	1	0	1	1	0	4	3	3	3	5	2	2	1	5	2	1	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:6978469G>A	ENST00000254868.4	-	9	1183	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CLEC10A_ENST00000416562.2_Silent_p.F258F|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000571664.1_Silent_p.F261F	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	285	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGTCTGGATGGAAGTGAGCAC	0.627																																						uc002gek.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(853-855)ttC>ttT		Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.							52	52	52					17																	6978469		2203	4300	6503	SO:0001819	synonymous_variant	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6978469G>A	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"C-type lectin domain containing", "CD molecules"	16916	protein-coding gene	gene with protein product	"macrophage lectin 2 (calcium dependent)"	605999	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.855C>T	17.37:g.6978469G>A						CLEC10A_uc002gej.3_Silent_p.F261F|CLEC10A_uc010clv.2_3'UTR	p.F285F	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN			8	1158	-			285			C-type lectin.		A8K8J8|Q14538|Q6PIW3	Silent	SNP	ENST00000254868.4	37	c.855C>T	CCDS11087.1																																																																																				0.627	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		A	6978469	G	A	6978469	2	1	100	1	0	0	0	0	0	0	0	1	3495	1165	41	3		3	CLEC10A	17	6978469	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		6978469	74216741	45	6841											
DNAH2	146754	broad.mit.edu	37	chr17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgagaatggcatcatcGtcacccgaggcaacaggtga	12	6	11	12	2	2	2	2	2	0	1	3	4	2	2	2	3	1	2	2	3	2	0			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:7721011G>A	ENST00000572933.1	+	66	11613	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V3385I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3385	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(10153-10155)Gtc>Atc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							73	69	71					17																	7721011		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721011G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10153G>A	17.37:g.7721011G>A	ENSP00000458355:p.Val3385Ile					DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	p.V3385I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			64	10167	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3385			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10153G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825460	0.71143	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61040	0.14	5.36	5.36	0.76844	.	0.077077	0.51477	D	0.000099	T	0.72938	0.3523	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.67900	0.923;0.954	T	0.72646	-0.4230	10	0.45353	T	0.12	.	17.8503	0.88744	0.0:0.0:1.0:0.0	.	3346;3385	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3346;3385	ENSP00000373825:V3385I	ENSP00000353818:V3346I	V	+	1	0	DNAH2	7661736	1.000000	0.71417	0.963000	0.40424	0.546000	0.35178	5.306000	0.65756	2.514000	0.84764	0.557000	0.71058	GTC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7721011	G	A	7721011	3	1	100	1	0	0	0	0	1	0	0	0	4602	1145	40	1	10411	1	DNAH2	17	7721011	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	742542	7721011	73474199	46	6842											
MYO15A	51168	broad.mit.edu	37	chr17	18058720	18058720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggccaggaggccggcggGcagctgcgggtcctgcgtgc	3	5	21	12	4	0	0	0	0	0	0	1	1	1	1	3	7	4	2	3	7	0	0			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:18058720G>A	ENST00000205890.5	+	47	8771	c.8433G>A	c.(8431-8433)ggG>ggA	p.G2811G	MYO15A_ENST00000418233.3_Silent_p.G75G|MYO15A_ENST00000585180.1_Missense_Mutation_p.A74T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2811	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCGGCGGGCAGCTGCGGG	0.647																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8431-8433)ggG>ggA		Homo sapiens myosin XVA (MYO15A), mRNA.							43	52	49					17																	18058720		2099	4235	6334	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18058720G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8433G>A	17.37:g.18058720G>A						MYO15A_uc021trl.1_Silent_p.G2809G|MYO15A_uc010vxi.2_Silent_p.G75G|MYO15A_uc010vxj.1_Silent_p.G10G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	p.G2811G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			45	8652	+	all_neural(463;0.228)		2811			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.8433G>A	CCDS42271.1																																																																																				0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18058720	G	A	18058720	2	1	100	1	0	0	0	0	0	0	0	1	10063	1190	42	3		3	MYO15A	17	18058720	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	10337709	18058720	63136490	47	6843											
RNF213	57674	broad.mit.edu	37	chr17	78349658	78349658	+	Frame_Shift_Del	DEL	C	C	-																															tcccacaatgcaagcctccaCcccacgccagaggtgagtaa																										TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:78349658delC	ENST00000582970.1	+	51	13316	c.13173delC	c.(13171-13173)cacfs	p.H4391fs	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Frame_Shift_Del_p.H2464fs|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Frame_Shift_Del_p.H4440fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4391					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGCCTCCACCCCACGCCAG	0.473																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13318-13320)cacfs		SubName: Full=Uncharacterized protein;							77	72	73					17																	78349658		2203	4300	6503	SO:0001589	frameshift_variant	57674							g.chr17:78349658delC	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13173delC	17.37:g.78349658delC	ENSP00000464087:p.His4391fs					RNF213_uc021uen.1_Frame_Shift_Del_p.H4391fs|LOC100294362_uc002jyi.2_Intron	p.H4440fs	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		51	13463	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	37	c.13320delC	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		-	78349658	C	-	78349658	7	5	100	1	0	1	0	1	0	0	0	0	13477	506	18	0	13690	0	RNF213	17	78349658	Frame_Shift_Del	DEL	C	TCGA-06-6390-01A-11D-1696-08	60290938	78349658	2845552	48	6844											
C18orf55	29090	broad.mit.edu	37	chr18	71825425	71825425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcactgaatatgtaaaaGatgggctgaaacacacgtgt	14	10	11	6	1	1	3	1	2	0	1	1	3	1	3	0	2	1	3	0	2	5	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr18:71825425G>C	ENST00000169551.6	+	5	854	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	186					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											ATATGTAAAAGATGGGCTGAA	0.448																																						uc010dqr.1																			0											c.(556-558)Gat>Cat		Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.							88	91	90					18																	71825425		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71825425G>C	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"chromosome 18 open reading frame 55"	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.556G>C	18.37:g.71825425G>C	ENSP00000169551:p.Asp186His						p.D186H	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN			4	854	+			186					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.556G>C	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	5.360	0.251686	0.10185	.	.	ENSG00000075336	ENST00000169551	T	0.55052	0.54	5.55	3.75	0.43078	.	0.094359	0.64402	D	0.000001	T	0.57577	0.2063	M	0.76170	2.325	0.80722	D	1	P	0.41475	0.751	P	0.45167	0.472	T	0.59445	-0.7453	10	0.59425	D	0.04	-19.4553	10.9185	0.47150	0.1523:0.0:0.8477:0.0	.	186	Q9BVV7	TI21L_HUMAN	H	186	ENSP00000169551:D186H	ENSP00000169551:D186H	D	+	1	0	C18orf55	69976405	1.000000	0.71417	0.490000	0.27465	0.080000	0.17528	4.472000	0.60189	0.687000	0.31509	0.551000	0.68910	GAT		0.448	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		C	71825425	G	C	71825425	3	2	100	1	0	0	0	0	1	0	0	0	1905	942	33	5	574	5	C18orf55	18	71825425	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		71825425	6251823	49	6845											
POLRMT	5442	broad.mit.edu	37	chr19	629657	629657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaggggcagctggtcagtGagcaggcagcacttgaagaa	11	5	17	8	1	1	3	1	2	0	1	1	4	1	3	0	4	3	5	0	4	2	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:629657G>A	ENST00000588649.2	-	3	789	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	235					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTCAGTGAGCAGGCAGC	0.662																																						uc002lpf.1																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(703-705)ctC>ctT		Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.							25	27	26					19																	629657		2201	4297	6498	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:629657G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.705C>T	19.37:g.629657G>A							p.L235L	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	761	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	235					O60370	Silent	SNP	ENST00000588649.2	37	c.705C>T	CCDS12036.1																																																																																				0.662	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	629657	G	A	629657	2	1	100	1	0	0	0	0	0	0	0	1	12238	1277	45	3		3	POLRMT	19	629657	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		629657	58499326	50	6846											
MUC16	94025	broad.mit.edu	37	chr19	9056794	9056794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttcagtatactgtgAggctggaggccagtctgggg	8	11	16	6	0	2	1	1	1	1	0	2	3	2	3	1	6	1	2	1	6	3	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:9056794A>G	ENST00000397910.4	-	3	30855	c.30652T>C	c.(30652-30654)Tca>Cca	p.S10218P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10220	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATACTGTGAGGCTGGAGGC	0.463																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30652-30654)Tca>Cca		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							108	107	107					19																	9056794		1936	4143	6079	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056794A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30652T>C	19.37:g.9056794A>G	ENSP00000381008:p.Ser10218Pro						p.S10218P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	30856	-			10220			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30652T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.094	0.385556	0.11524	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	3.14	-2.01	0.07410	.	.	.	.	.	T	0.01870	0.0059	N	0.24115	0.695	.	.	.	B	0.28713	0.22	B	0.27076	0.076	T	0.46414	-0.9193	8	0.87932	D	0	.	0.2926	0.00260	0.3798:0.1804:0.2393:0.2005	.	10218	B5ME49	.	P	10218	ENSP00000381008:S10218P	ENSP00000381008:S10218P	S	-	1	0	MUC16	8917794	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.048000	0.11944	-0.582000	0.05929	0.383000	0.25322	TCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9056794	A	G	9056794	3	3	100	1	0	0	0	0	1	0	0	0	9973	304	11	4	13199	4	MUC16	19	9056794	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	8427137	9056794	50072189	51	6847											
EPS15L1	58513	broad.mit.edu	37	chr19	16528878	16528878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaacgcgaattggtcttTgcttaacttccccgtttgcc	7	14	8	12	3	1	0	0	0	1	0	2	1	2	0	3	1	5	3	3	1	3	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:16528878T>C	ENST00000248070.6	-	11	1127	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	EPS15L1_ENST00000455140.2_Missense_Mutation_p.K330E|EPS15L1_ENST00000597937.1_Missense_Mutation_p.K330E|EPS15L1_ENST00000602009.1_Missense_Mutation_p.K176E|EPS15L1_ENST00000594975.1_Missense_Mutation_p.K330E|EPS15L1_ENST00000535753.2_Missense_Mutation_p.K330E	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	330	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTGGTCTTTGCTTAACTTC	0.547											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(988-990)Aaa>Gaa		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							217	156	177					19																	16528878		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528878T>C	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.988A>G	19.37:g.16528878T>C	ENSP00000248070:p.Lys330Glu		OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.K220E|EPS15L1_uc002ndz.1_Missense_Mutation_p.K330E|EPS15L1_uc010xpf.1_Missense_Mutation_p.K233E|EPS15L1_uc002nea.1_Missense_Mutation_p.K330E|EPS15L1_uc010eah.1_Missense_Mutation_p.K330E|EPS15L1_uc002neb.1_Missense_Mutation_p.K176E|EPS15L1_uc002nec.1_Missense_Mutation_p.K330E	p.K330E	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			10	994	-			330			EH 3.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.988A>G	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144297	0.57044	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29142	1.58;1.58;1.58	4.55	3.49	0.39957	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.058138	0.64402	D	0.000003	T	0.34716	0.0907	M	0.74467	2.265	0.38404	D	0.945743	B;B;B;B;B;B	0.24092	0.097;0.041;0.078;0.078;0.02;0.016	B;B;B;B;B;B	0.28709	0.093;0.081;0.038;0.038;0.055;0.049	T	0.25047	-1.0143	10	0.51188	T	0.08	.	10.3091	0.43697	0.0:0.0:0.166:0.834	.	330;330;329;330;330;330	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	E	330	ENSP00000393313:K330E;ENSP00000248070:K330E;ENSP00000440103:K330E	ENSP00000248070:K330E	K	-	1	0	EPS15L1	16389878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	0.725000	0.32318	0.533000	0.62120	AAA		0.547	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		C	16528878	T	C	16528878	3	2	100	1	0	0	0	0	1	0	0	0	5193	1821	63	4	1658	4	EPS15L1	19	16528878	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	7472084	16528878	42600105	52	6848											
USHBP1	83878	broad.mit.edu	37	chr19	17362437	17362437	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggcactctgagaccGtctggctcgccccttctgag	5	9	11	16	3	3	2	0	2	3	1	5	3	3	2	3	2	1	3	3	2	0	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:17362437G>A	ENST00000594059.1	-	0	247				USHBP1_ENST00000431146.2_Missense_Mutation_p.R562W|USHBP1_ENST00000252597.3_Missense_Mutation_p.R626W														p.R626W(1)									CTCTGAGACCGTCTGGCTCGC	0.607																																						uc002nfs.1																			1	Substitution - Missense(1)	p.R626W(2)	endometrium(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1876-1878)Cgg>Tgg		Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.							106	105	106					19																	17362437		2203	4300	6503			83878						PDZ domain binding	g.chr19:17362437G>A																												ENST00000594059.1:c.-129C>T	19.37:g.17362437G>A						USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	p.R626W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			11	1989	-			626						Missense_Mutation	SNP	ENST00000594059.1	37	c.1876C>T		.	.	.	.	.	.	.	.	.	.	G	12.94	2.089152	0.36855	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.28	-1.21	0.09524	.	0.816672	0.10189	N	0.704928	T	0.30572	0.0769	L	0.56769	1.78	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.63283	0.913;0.913	T	0.19943	-1.0290	10	0.72032	D	0.01	-0.114	1.4823	0.02439	0.2006:0.1637:0.4681:0.1676	.	562;626	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	W	626;562	ENSP00000252597:R626W;ENSP00000407902:R562W	ENSP00000252597:R626W	R	-	1	2	USHBP1	17223437	0.000000	0.05858	0.013000	0.15412	0.436000	0.31835	0.186000	0.16978	0.036000	0.15547	0.561000	0.74099	CGG		0.607	AC010646.3-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000463327.1			A	17362437	G	A	17362437	1	1	100	1	0	1	0	0	0	0	0	0	17034	1144	40	1		1	USHBP1	19	17362437	De_novo_Start_OutOfFrame	SNP	G	TCGA-06-6390-01A-11D-1696-08	833559	17362437	41766546	53	6849											
MAG	4099	broad.mit.edu	37	chr19	35786610	35786610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgctttgacttcccGgatgagctgcggcccgctgt	3	10	12	16	4	0	2	0	2	0	0	1	3	1	3	4	2	3	3	4	2	0	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:35786610G>A	ENST00000392213.3	+	4	300	c.141G>A	c.(139-141)ccG>ccA	p.P47P	MAG_ENST00000597035.1_Silent_p.P47P|MAG_ENST00000537831.2_Silent_p.P22P|MAG_ENST00000361922.4_Silent_p.P47P	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	47	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGACTTCCCGGATGAGCTGC	0.642																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(139-141)ccG>ccA		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							73	76	75					19																	35786610		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786610G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.141G>A	19.37:g.35786610G>A						MAG_uc002nyx.2_Silent_p.P47P|MAG_uc010eds.2_Silent_p.P22P|MAG_uc002nyz.2_Silent_p.P47P	p.P47P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	339	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	47			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.141G>A	CCDS12455.1																																																																																				0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35786610	G	A	35786610	2	1	100	1	0	0	0	0	0	0	0	1	9162	1103	39	2		2	MAG	19	35786610	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	18424173	35786610	23342373	54	6850											
PRDM15	63977	broad.mit.edu	37	chr21	43246405	43246405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctcgcttcactcgccGcactcctgaaattgccaacc	7	10	6	18	3	2	1	1	1	1	0	6	1	4	1	5	0	2	2	5	0	2	2	rs139958739		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr21:43246405G>A	ENST00000269844.3	-	20	2748	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	PRDM15_ENST00000422911.1_Missense_Mutation_p.R571W|PRDM15_ENST00000398548.1_Missense_Mutation_p.R551W|PRDM15_ENST00000447207.2_Missense_Mutation_p.R514W|PRDM15_ENST00000538201.1_Missense_Mutation_p.R534W	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	880					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCACTCGCCGCACTCCTGAA	0.577													g|||	1	0.000199681	0	0	5008	,	,		17930	0.001		0	False		,,,				2504	0					uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2638-2640)Cgg>Tgg		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							70	62	65					21																	43246405		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43246405G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2638C>T	21.37:g.43246405G>A	ENSP00000269844:p.Arg880Trp					PRDM15_uc002yzo.3_Missense_Mutation_p.R551W|PRDM15_uc002yzp.3_Missense_Mutation_p.R571W|PRDM15_uc002yzr.1_Missense_Mutation_p.R571W	p.R880W	NM_022115	NP_071398	P57071	PRD15_HUMAN			19	2749	-			880					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2638C>T	CCDS13676.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	19.72	3.879568	0.72294	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.09630	2.96;3.04;2.98;3.03;3.0	5.3	0.537	0.17144	.	.	.	.	.	T	0.26122	0.0637	L	0.58669	1.825	0.46376	D	0.999015	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69654	0.965;0.874;0.936	T	0.02444	-1.1158	9	0.87932	D	0	-15.413	14.0889	0.64977	0.0:0.0:0.3676:0.6324	.	880;571;551	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	W	571;551;534;514;880	ENSP00000408592:R571W;ENSP00000381556:R551W;ENSP00000444044:R534W;ENSP00000390245:R514W;ENSP00000269844:R880W	ENSP00000269844:R880W	R	-	1	2	PRDM15	42119474	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	2.281000	0.43452	0.130000	0.18549	0.454000	0.30748	CGG		0.577	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43246405	G	A	43246405	3	1	100	1	0	0	0	0	1	0	0	0	12456	1086	38	1	1933	1	PRDM15	21	43246405	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		43246405	4883490	55	6851											
PIWIL3	440822	broad.mit.edu	37	chr22	25155854	25155854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagactgtgctcctcCtcctgctcctcctcttgctg	3	14	7	17	0	1	1	0	1	1	1	6	2	6	1	6	0	3	3	6	0	0	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr22:25155854C>T	ENST00000332271.5	-	3	621	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	69					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCTCCTCCTCCTGCTCCT	0.582																																						uc003abd.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(205-207)Gga>Aga		Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.							427	417	421					22																	25155854		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25155854C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.205G>A	22.37:g.25155854C>T	ENSP00000330031:p.Gly69Arg					PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R|PIWIL3_uc011ajy.1_5'UTR	p.G69R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			2	622	-			69						Missense_Mutation	SNP	ENST00000332271.5	37	c.205G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227540	0.22542	.	.	ENSG00000184571	ENST00000332271	T	0.04119	3.7	2.32	-1.64	0.08318	.	251.269000	0.02277	U	0.068982	T	0.03695	0.0105	N	0.22421	0.69	0.09310	N	0.999999	D;P	0.61080	0.989;0.524	P;B	0.44518	0.452;0.055	T	0.37197	-0.9716	10	0.11794	T	0.64	-0.842	2.9907	0.05982	0.0:0.4305:0.2332:0.3363	.	69;69	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	R	69	ENSP00000330031:G69R	ENSP00000330031:G69R	G	-	1	0	PIWIL3	23485854	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.171000	0.16685	-0.264000	0.09365	-0.808000	0.03180	GGA		0.582	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		T	25155854	C	T	25155854	3	4	100	1	0	0	0	0	1	0	0	0	11959	690	24	3	2519	3	PIWIL3	22	25155854	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		25155854	26148712	56	6852											
HTR1D	3352	broad.mit.edu	37	chr1	23520158	23520158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaccagacagtccgaCatctcctcctgggccttggc	6	10	10	15	1	2	1	1	0	1	1	5	2	4	1	5	2	0	1	5	2	0	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:23520158C>T	ENST00000374619.1	-	1	1064	c.555G>A	c.(553-555)atG>atA	p.M185I	HTR1D_ENST00000314113.3_Missense_Mutation_p.M185I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	185					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACAGTCCGACATCTCCTCCT	0.592																																						uc001bgn.3																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(553-555)atG>atA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						70	76	74					1																	23520158		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520158C>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.555G>A	1.37:g.23520158C>T	ENSP00000363748:p.Met185Ile						p.M185I	NM_000864	NP_000855	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	0	1065	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	185						Missense_Mutation	SNP	ENST00000374619.1	37	c.555G>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	6.260	0.416000	0.11870	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.36340	1.26;1.26	5.48	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.262738	0.39687	N	0.001291	T	0.12135	0.0295	N	0.00873	-1.125	0.37280	D	0.90781	B	0.02656	0.0	B	0.04013	0.001	T	0.07009	-1.0795	10	0.37606	T	0.19	.	8.7106	0.34382	0.2616:0.4731:0.2654:0.0	.	185	P28221	5HT1D_HUMAN	I	185	ENSP00000313661:M185I;ENSP00000363748:M185I	ENSP00000313661:M185I	M	-	3	0	HTR1D	23392745	0.993000	0.37304	0.995000	0.50966	0.676000	0.39594	0.450000	0.21762	1.268000	0.44264	0.591000	0.81541	ATG		0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		T	23520158	C	T	23520158	3	4	101	1	0	0	0	0	1	0	0	0	7438	478	17	3	582	3	HTR1D	1	23520158	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		23520158	225730463	1	6853											
MTF1	4520	broad.mit.edu	37	chr1	38305766	38305766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgagtcttctggtgggttCgcaggttgcctgctgtgctg	2	14	17	8	1	2	1	0	1	2	0	3	1	2	1	1	4	3	5	1	4	0	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:38305766C>T	ENST00000373036.4	-	3	613	c.473G>A	c.(472-474)cGa>cAa	p.R158Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	158					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGTGGGTTCGCAGGTTGCC	0.527																																						uc001cce.1																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(472-474)cGa>cAa		Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.							153	135	141					1																	38305766		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305766C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.473G>A	1.37:g.38305766C>T	ENSP00000362127:p.Arg158Gln					MTF1_uc009vvj.1_5'UTR	p.R158Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN			2	614	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	158					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.473G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323101	0.95708	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.50813	0.73	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	N	0.16743	0.435	0.49051	D	0.999746	D	0.89917	1.0	D	0.72625	0.978	T	0.57688	-0.7768	10	0.45353	T	0.12	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	158	Q14872	MTF1_HUMAN	Q	158;26	ENSP00000362127:R158Q	ENSP00000362127:R158Q	R	-	2	0	MTF1	38078353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.877000	0.69675	2.665000	0.90641	0.650000	0.86243	CGA		0.527	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		T	38305766	C	T	38305766	3	4	101	1	0	0	0	0	1	0	0	0	9922	884	31	2	1824	2	MTF1	1	38305766	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	14785608	38305766	210944855	2	6854											
IL12RB2	3595	broad.mit.edu	37	chr1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccagcctgtccctggaCggtgctcccagcaggtgacc	8	6	11	16	1	0	1	0	1	0	0	2	2	2	2	5	3	4	2	5	3	1	0	rs141507006		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:67861543C>T	ENST00000262345.1	+	16	3000	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	IL12RB2_ENST00000544434.1_Missense_Mutation_p.T701M|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	787					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGTCCCTGGACGGTGCTCCCA	0.582																																						uc001ddu.3																			0		p.T787T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2359-2361)aCg>aTg		Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.		C	MET/THR	0,4406		0,0,2203	147	142	144		2360	1.7	0	1	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL12RB2	NM_001559.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	787/863	67861543	1,13005	2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861543C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2360C>T	1.37:g.67861543C>T	ENSP00000262345:p.Thr787Met					IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	p.T787M	NM_001559	NP_001550	Q99665	I12R2_HUMAN			15	3000	+			787					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2360C>T	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544899	0.45280	0.0	1.16E-4	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.43294	0.95;1.85	4.85	1.69	0.24217	.	0.389061	0.27936	N	0.017242	T	0.37679	0.1012	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.77004	0.989;0.791	T	0.11616	-1.0580	10	0.56958	D	0.05	-0.8822	2.9707	0.05922	0.1855:0.5364:0.1797:0.0983	.	701;787	F5H7L6;Q99665	.;I12R2_HUMAN	M	787;701	ENSP00000262345:T787M;ENSP00000442443:T701M	ENSP00000262345:T787M	T	+	2	0	IL12RB2	67634131	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.250000	0.18235	0.732000	0.32470	0.655000	0.94253	ACG		0.582	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		T	67861543	C	T	67861543	3	4	101	1	0	0	0	0	1	0	0	0	7627	536	19	1	2418	1	IL12RB2	1	67861543	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	29555777	67861543	181389078	3	6855											
LRRC8D	55144	broad.mit.edu	37	chr1	90400304	90400304	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcctgggtgtatttgctCaaaaaccttcgagagttgta	9	13	10	9	1	1	1	1	0	0	1	2	2	1	1	3	1	3	4	3	1	4	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:90400304C>G	ENST00000337338.5	+	3	2084	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	LRRC8D_ENST00000394593.3_Silent_p.L559L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	559					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGTATTTGCTCAAAAACCTTC	0.418																																						uc021opq.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1675-1677)ctC>ctG		Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.							68	69	68					1																	90400304		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400304C>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1677C>G	1.37:g.90400304C>G						LRRC8D_uc001dnm.3_Silent_p.L559L|LRRC8D_uc001dnn.3_Silent_p.L559L	p.L559L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	0	1677	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	559					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1677C>G	CCDS726.1																																																																																				0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		G	90400304	C	G	90400304	2	3	101	1	0	0	0	0	0	0	0	1	9024	813	29	5		5	LRRC8D	1	90400304	Silent	SNP	C	TCGA-06-6391-01A-11D-1696-08	22538761	90400304	158850317	4	6856											
C1orf85	112770	broad.mit.edu	37	chr1	156264001	156264001	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagggggttgggctggTcggctggacctggaaaaggc	7	6	21	7	2	0	0	0	0	0	0	1	3	0	2	1	9	0	3	1	9	2	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156264001T>A	ENST00000362007.1	-	4	632	c.606A>T	c.(604-606)cgA>cgT	p.R202R	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	202					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTTGGGCTGGTCGGCTGGACC	0.592																																						uc001foh.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(604-606)cgA>cgT		Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.							41	43	42					1																	156264001		2203	4300	6503	SO:0001819	synonymous_variant	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156264001T>A	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.606A>T	1.37:g.156264001T>A						C1orf85_uc001fof.4_5'Flank	p.R202R	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN			3	619	-	Hepatocellular(266;0.158)		202					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	c.606A>T	CCDS1139.1																																																																																				0.592	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		A	156264001	T	A	156264001	2	1	101	1	0	0	0	0	0	0	0	1	2062	1654	58	5		5	C1orf85	1	156264001	Silent	SNP	T	TCGA-06-6391-01A-11D-1696-08	65863697	156264001	92986620	5	6857											
NTRK1	4914	broad.mit.edu	37	chr1	156841494	156841494	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaagaacgtgacgtgctGggcagagaacgatgtgggcc	11	5	17	8	3	0	3	0	1	0	2	0	6	0	4	1	3	3	2	1	3	3	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156841494G>A	ENST00000524377.1	+	7	838	c.797G>A	c.(796-798)tGg>tAg	p.W266*	NTRK1_ENST00000358660.3_Nonsense_Mutation_p.W266*|NTRK1_ENST00000368196.3_Nonsense_Mutation_p.W266*|NTRK1_ENST00000392302.2_Nonsense_Mutation_p.W236*	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	266	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTGACGTGCTGGGCAGAGAAC	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(796-798)tGg>tAg		Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	Imatinib(DB00619)						101	86	91					1																	156841494		2203	4300	6503	SO:0001587	stop_gained	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841494G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.797G>A	1.37:g.156841494G>A	ENSP00000431418:p.Trp266*	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*	p.W266*	NM_002529	NP_002520	P04629	NTRK1_HUMAN			6	853	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		266			Ig-like C2-type 1.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Nonsense_Mutation	SNP	ENST00000524377.1	37	c.797G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397089	0.96009	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	.	.	.	4.7	4.7	0.59300	.	0.274695	0.26442	N	0.024346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	16.3725	0.83370	0.0:0.0:1.0:0.0	.	.	.	.	X	236;266;266;266	.	ENSP00000351486:W266X	W	+	2	0	NTRK1	155108118	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	2.637000	0.46553	2.432000	0.82394	0.655000	0.94253	TGG		0.592	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		A	156841494	G	A	156841494	4	1	101	1	0	0	0	0	0	1	0	0	10706	1357	47	3	953	3	NTRK1	1	156841494	Nonsense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	577493	156841494	92409127	6	6858											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574923	232574923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgccggcggagatggtgGacgcgtagccatgcacagaa	10	5	15	11	4	0	2	0	0	0	2	0	4	0	3	2	4	3	2	2	4	2	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:232574923G>A	ENST00000366630.1	-	14	4320	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S395F|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1321F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1321	Ser-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGATGGTGGACGCGTAGCC	0.602																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3961-3963)tCc>tTc		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							32	36	35					1																	232574923		2084	4221	6305	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574923G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3962C>T	1.37:g.232574923G>A	ENSP00000355589:p.Ser1321Phe					SIPA1L2_uc001hvf.3_Missense_Mutation_p.S395F	p.S1321F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			12	4120	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1321			Ser-rich.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3962C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823413	0.02755	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.79749	-1.3;-1.3;2.64	5.16	5.16	0.70880	.	1.000890	0.08060	N	0.998044	T	0.79088	0.4387	L	0.43152	1.355	0.09310	N	1	B;P	0.47253	0.371;0.892	B;B	0.43251	0.235;0.413	T	0.70883	-0.4751	10	0.59425	D	0.04	-3.4595	14.4464	0.67352	0.0:0.147:0.853:0.0	.	1321;395	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	F	1321;1321;395	ENSP00000355589:S1321F;ENSP00000262861:S1321F;ENSP00000309102:S395F	ENSP00000262861:S1321F	S	-	2	0	SIPA1L2	230641546	0.995000	0.38212	0.006000	0.13384	0.044000	0.14063	5.986000	0.70563	2.683000	0.91414	0.563000	0.77884	TCC		0.602	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232574923	G	A	232574923	3	1	101	1	0	0	0	0	1	0	0	0	14330	1174	41	3	1242	3	SIPA1L2	1	232574923	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	75733429	232574923	16675698	7	6859											
APOB	338	broad.mit.edu	37	chr2	21229086	21229086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggagtgtggcttctcCagcaaaattttcttttactt	7	17	9	8	1	2	0	0	0	2	0	3	1	2	1	1	2	2	3	1	2	3	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21229086C>G	ENST00000233242.1	-	26	10781	c.10654G>C	c.(10654-10656)Gga>Cga	p.G3552R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3552					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGCTTCTCCAGCAAAATTT	0.443																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10654-10656)Gga>Cga		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						65	68	67					2																	21229086		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229086C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10654G>C	2.37:g.21229086C>G	ENSP00000233242:p.Gly3552Arg						p.G3552R	NM_000384	NP_000375	P04114	APOB_HUMAN			25	10782	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3552					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10654G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026658	0.54683	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.80393	-1.37	5.85	5.85	0.93711	.	0.112563	0.39475	N	0.001358	D	0.88085	0.6342	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.64042	0.921	D	0.88388	0.3006	10	0.62326	D	0.03	.	15.7433	0.77920	0.1371:0.8629:0.0:0.0	.	3552	P04114	APOB_HUMAN	R	3552	ENSP00000233242:G3552R	ENSP00000233242:G3552R	G	-	1	0	APOB	21082591	0.931000	0.31567	1.000000	0.80357	0.731000	0.41821	1.562000	0.36353	2.768000	0.95171	0.655000	0.94253	GGA		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21229086	C	G	21229086	3	3	101	1	0	0	0	0	1	0	0	0	785	603	21	5	3053	5	APOB	2	21229086	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		21229086	221970287	8	6860											
APOB	338	broad.mit.edu	37	chr2	21245793	21245793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacatgagcctccagacccGactcgtggaagaagttggtg	11	7	12	11	2	0	3	0	1	0	2	2	5	1	4	3	2	2	1	3	2	3	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21245793G>A	ENST00000233242.1	-	18	2853	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	909	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCAGACCCGACTCGTGGAA	0.498																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2725-2727)tCg>tTg		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						85	79	81					2																	21245793		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245793G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2726C>T	2.37:g.21245793G>A	ENSP00000233242:p.Ser909Leu						p.S909L	NM_000384	NP_000375	P04114	APOB_HUMAN			17	2854	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		909			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2726C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759418	0.89932	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.16743	2.32	5.51	5.51	0.81932	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.237631	0.29609	N	0.011670	T	0.40694	0.1127	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	P	0.61275	0.886	T	0.14364	-1.0475	10	0.87932	D	0	.	19.7977	0.96492	0.0:0.0:1.0:0.0	.	909	P04114	APOB_HUMAN	L	909	ENSP00000233242:S909L	ENSP00000233242:S909L	S	-	2	0	APOB	21099298	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.726000	0.68515	2.765000	0.95021	0.655000	0.94253	TCG		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21245793	G	A	21245793	3	1	101	1	0	0	0	0	1	0	0	0	785	1059	37	2	11013	2	APOB	2	21245793	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	16707	21245793	221953580	9	6861											
NEB	4703	broad.mit.edu	37	chr2	152476016	152476016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgatgtcattctggtcGggcaggcagatccattcatg	9	12	12	8	1	3	3	2	2	1	1	5	3	4	3	1	3	0	2	1	3	1	2	rs375814899		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:152476016G>A	ENST00000172853.10	-	69	10239	c.10092C>T	c.(10090-10092)ccC>ccT	p.P3364P	NEB_ENST00000604864.1_Silent_p.P3607P|NEB_ENST00000603639.1_Silent_p.P3607P|NEB_ENST00000397345.3_Silent_p.P3607P|NEB_ENST00000427231.2_Silent_p.P3607P|NEB_ENST00000409198.1_Silent_p.P3364P			P20929	NEBU_HUMAN	nebulin	3364					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTCTGGTCGGGCAGGCAGA	0.483																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10090-10092)ccC>ccT		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.		G	,,	0,4066		0,0,2033	153	146	148		10821,10821,10092	-11.2	0	2		148	3,8393		0,3,4195	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,3,6228	AA,AG,GG		0.0357,0.0,0.0241	,,	3607/8526,3607/8526,3364/6670	152476016	3,12459	2033	4198	6231	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152476016G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10092C>T	2.37:g.152476016G>A						NEB_uc002txu.3_Silent_p.P3607P|NEB_uc021vrc.1_Silent_p.P3607P|NEB_uc010fnx.3_Silent_p.P3352P|NEB_uc021vrd.1_Silent_p.P3364P	p.P3364P	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	67	10121	-			3364					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10092C>T																																																																																					0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152476016	G	A	152476016	2	1	101	1	0	0	0	0	0	0	0	1	10302	1103	39	2		2	NEB	2	152476016	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	131230223	152476016	90723357	10	6862											
ZNF142	7701	broad.mit.edu	37	chr2	219509392	219509392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttgggccctgcatggccCcttctggctcctggcttgca	2	12	13	14	0	1	0	0	0	1	0	2	0	2	0	4	4	2	5	4	4	0	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:219509392C>T	ENST00000449707.1	-	8	2268	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	ZNF142_ENST00000411696.2_Missense_Mutation_p.G616E	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCATGGCCCCTTCTGGCTC	0.607																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0		p.W616L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1846-1848)gGg>gAg		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							43	46	45					2																	219509392		2023	4175	6198	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219509392C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1847G>A	2.37:g.219509392C>T	ENSP00000408643:p.Gly616Glu					ZNF142_uc002vil.3_Missense_Mutation_p.G577E|ZNF142_uc010fvt.3_Missense_Mutation_p.G453E|ZNF142_uc002vim.3_Missense_Mutation_p.G453E	p.G616E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	2283	-		Renal(207;0.0474)	616					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.1847G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	1.842	-0.467268	0.04476	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11169	2.8;2.8	5.95	2.11	0.27256	.	0.695879	0.15103	N	0.280406	T	0.07143	0.0181	L	0.51422	1.61	0.21933	N	0.999465	B;B	0.14805	0.009;0.011	B;B	0.14578	0.008;0.011	T	0.46345	-0.9198	10	0.02654	T	1	-9.4323	2.3972	0.04393	0.1732:0.4525:0.228:0.1463	.	616;453	P52746;A8MWU9	ZN142_HUMAN;.	E	616	ENSP00000408643:G616E;ENSP00000398798:G616E	ENSP00000398798:G616E	G	-	2	0	ZNF142	219217636	0.000000	0.05858	0.050000	0.19076	0.014000	0.08584	-0.209000	0.09358	0.108000	0.17862	-0.150000	0.13652	GGG		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		T	219509392	C	T	219509392	3	4	101	1	0	0	0	0	1	0	0	0	17728	623	22	3	3228	3	ZNF142	2	219509392	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	67033376	219509392	23689981	11	6863											
ASB18	401036	broad.mit.edu	37	chr2	237103656	237103656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgctgcaggcagcgtggGgtgagggccaaggcaaagag	11	4	19	7	1	0	3	0	1	0	2	0	3	0	3	1	5	3	4	1	5	2	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:237103656G>A	ENST00000409749.3	-	6	1259	c.1260C>T	c.(1258-1260)acC>acT	p.T420T	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Silent_p.T391T	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	420	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGCAGCGTGGGGTGAGGGCCA	0.557																																						uc010znh.2																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(1258-1260)acC>acT		Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.							65	80	75					2																	237103656		2134	4253	6387	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237103656G>A	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1260C>T	2.37:g.237103656G>A							p.T420T	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	5	1260	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	420			SOCS box.		B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.1260C>T	CCDS46548.1																																																																																				0.557	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		A	237103656	G	A	237103656	2	1	101	1	0	0	0	0	0	0	0	1	1022	1219	43	3		3	ASB18	2	237103656	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	17594264	237103656	6095717	12	6864											
SCN10A	6336	broad.mit.edu	37	chr3	38743393	38743393	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttgtgaagtagtactGcctcaaagcgaacatcttca	12	11	8	10	1	3	1	2	1	1	0	3	2	3	1	2	0	4	2	2	0	5	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:38743393G>A	ENST00000449082.2	-	26	4593	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1532					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AAGTAGTACTGCCTCAAAGCG	0.483																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4594-4596)Cag>Tag		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						130	107	115					3																	38743393		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743393G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4594C>T	3.37:g.38743393G>A	ENSP00000390600:p.Gln1532*						p.Q1532*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4594	-			1532					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.4594C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	42	9.606955	0.99217	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.96	4.06	0.47325	.	0.419772	0.28700	N	0.014431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.6696	0.34143	0.2252:0.0:0.7748:0.0	.	.	.	.	X	1532	.	ENSP00000390600:Q1532X	Q	-	1	0	SCN10A	38718397	1.000000	0.71417	0.887000	0.34795	0.945000	0.59286	3.900000	0.56295	2.560000	0.86352	0.557000	0.71058	CAG		0.483	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38743393	G	A	38743393	4	1	101	1	0	0	0	0	0	1	0	0	13912	1328	46	3	1284	3	SCN10A	3	38743393	Nonsense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		38743393	159279037	13	6865											
CCR5	1234	broad.mit.edu	37	chr3	46414869	46414869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtggtggctgtgtttgCgtctctcccaggaatcatct	4	15	13	9	1	3	0	1	0	2	0	5	1	4	1	1	4	1	2	1	4	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:46414869C>T	ENST00000292303.4	+	2	622	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CCR5_ENST00000343801.4_Missense_Mutation_p.A159V|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.A159V	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	159					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTGTGTTTGCGTCTCTCCCA	0.468																																						uc003cpo.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(475-477)gCg>gTg		Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	Maraviroc(DB04835)						153	160	158					3																	46414869		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414869C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.476C>T	3.37:g.46414869C>T	ENSP00000292303:p.Ala159Val					CCR5_uc010hjd.3_Missense_Mutation_p.A159V|CCR5_uc021wxb.1_Missense_Mutation_p.A159V	p.A159V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	598	+			159					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.476C>T	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.832002	0.16820	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.70045	-0.45;-0.45;-0.45	5.42	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.273213	0.25327	U	0.031479	T	0.56601	0.1996	L	0.33137	0.985	0.09310	N	1	B	0.21688	0.059	B	0.31290	0.127	T	0.52124	-0.8617	10	0.52906	T	0.07	.	10.9335	0.47233	0.0:0.7146:0.0:0.2854	.	159	P51681	CCR5_HUMAN	V	159;139;159;159	ENSP00000343985:A159V;ENSP00000292303:A159V;ENSP00000404881:A159V	ENSP00000292303:A159V	A	+	2	0	CCR5	46389873	0.000000	0.05858	0.021000	0.16686	0.259000	0.26198	-0.151000	0.10175	0.143000	0.18926	0.561000	0.74099	GCG		0.468	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		T	46414869	C	T	46414869	3	4	101	1	0	0	0	0	1	0	0	0	2944	768	27	1	478	1	CCR5	3	46414869	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	7671476	46414869	151607561	14	6866											
SEMA3G	56920	broad.mit.edu	37	chr3	52469856	52469856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtccttgtaccaggcCttgggtggggtggaagccag	7	9	17	8	0	0	0	0	0	0	0	1	2	1	2	4	6	2	1	4	6	2	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:52469856C>T	ENST00000231721.2	-	16	2111	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	704					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGTACCAGGCCTTGGGTGGGG	0.642																																						uc003dea.1																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(2110-2112)aaG>aaA		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.							71	79	77					3																	52469856		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52469856C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2112G>A	3.37:g.52469856C>T							p.K704K	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	15	2112	-			704					Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.2112G>A	CCDS2856.1																																																																																				0.642	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		T	52469856	C	T	52469856	2	4	101	1	0	0	0	0	0	0	0	1	14030	680	24	3		3	SEMA3G	3	52469856	Silent	SNP	C	TCGA-06-6391-01A-11D-1696-08	6054987	52469856	145552574	15	6867											
EAF2	55840	broad.mit.edu	37	chr3	121573665	121573665	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaacatcactgtaaaaaaAacaaggtatgtggtttaatg	18	10	8	5	0	1	0	1	0	0	0	1	0	1	0	0	2	3	4	0	2	8	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:121573665A>T	ENST00000273668.2	+	3	404	c.333A>T	c.(331-333)aaA>aaT	p.K111N	EAF2_ENST00000451944.2_Missense_Mutation_p.K111N	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	111					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTGTAAAAAAAACAAGGTATG	0.254																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(331-333)aaA>aaT		Homo sapiens ELL associated factor 2 (EAF2), mRNA.							44	49	48					3																	121573665		2201	4295	6496	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573665A>T	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.333A>T	3.37:g.121573665A>T	ENSP00000273668:p.Lys111Asn					EAF2_uc003eeo.3_Intron	p.K111N	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	2	432	+			111					Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.333A>T	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668010	0.67814	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.93	3.74	0.42951	Transcription elognation factor  Eaf, N-terminal (1);	0.043333	0.85682	N	0.000000	T	0.69287	0.3094	M	0.72894	2.215	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.68693	-0.5341	9	0.66056	D	0.02	-10.5862	4.8326	0.13449	0.7129:0.1922:0.0949:0.0	.	111	Q96CJ1	EAF2_HUMAN	N	111	.	ENSP00000273668:K111N	K	+	3	2	EAF2	123056355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.357000	0.52277	0.848000	0.35191	0.533000	0.62120	AAA		0.254	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		T	121573665	A	T	121573665	3	4	101	1	0	0	0	0	1	0	0	0	4876	11	1	5	343	5	EAF2	3	121573665	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	69103809	121573665	76448765	16	6868											
MBNL1	4154	broad.mit.edu	37	chr3	152163096	152163096	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgagagtaccaacgtggcaAttgcaaccgaggagaaaatg	15	6	12	8	3	0	2	0	0	0	2	1	5	0	2	2	2	4	3	2	2	6	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:152163096A>T	ENST00000463374.1	+	4	1086	c.575A>T	c.(574-576)aAt>aTt	p.N192I	MBNL1_ENST00000324210.5_Missense_Mutation_p.N192I|MBNL1_ENST00000357472.3_Missense_Mutation_p.N192I|MBNL1_ENST00000324196.5_Missense_Mutation_p.N192I|MBNL1_ENST00000355460.2_Missense_Mutation_p.N192I|MBNL1_ENST00000485509.1_Missense_Mutation_p.N192I|MBNL1_ENST00000493459.1_Missense_Mutation_p.N135I|MBNL1_ENST00000282488.7_Missense_Mutation_p.N124I|MBNL1_ENST00000282486.6_Missense_Mutation_p.N192I|MBNL1_ENST00000492948.1_Missense_Mutation_p.N192I|MBNL1_ENST00000545754.1_Missense_Mutation_p.N124I|MBNL1_ENST00000485910.1_Missense_Mutation_p.N124I|MBNL1_ENST00000498502.1_Missense_Mutation_p.N192I	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	192					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAACGTGGCAATTGCAACCGA	0.403																																						uc003ezm.3																			0		p.G191D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(574-576)aAt>aTt		Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.							123	98	107					3																	152163096		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152163096A>T	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.575A>T	3.37:g.152163096A>T	ENSP00000418108:p.Asn192Ile					MBNL1_uc003ezh.3_Missense_Mutation_p.N192I|MBNL1_uc003ezi.3_Missense_Mutation_p.N192I|MBNL1_uc003ezj.3_Missense_Mutation_p.N135I|MBNL1_uc003ezl.3_Missense_Mutation_p.N192I|MBNL1_uc003ezp.3_Missense_Mutation_p.N192I|MBNL1_uc003ezn.3_Missense_Mutation_p.N124I|MBNL1_uc003ezo.3_Missense_Mutation_p.N124I|MBNL1_uc010hvp.3_Missense_Mutation_p.N100I	p.N192I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	1364	+			192					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.575A>T	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.378635|4.378635	0.82682|0.82682	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509;ENST00000478535	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67040|0.67040	0.2851|0.2851	M|M	0.83692|0.83692	2.655|2.655	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D;P;D;D;D;P;P	.|0.89917	.|0.979;0.992;1.0;0.951;0.987;0.979;0.99;0.953;0.714	.|D;D;D;P;P;P;D;P;P	.|0.91635	.|0.913;0.917;0.999;0.733;0.894;0.908;0.93;0.851;0.521	T|T	0.70037|0.70037	-0.4982|-0.4982	5|10	.|0.44086	.|T	.|0.13	-8.5125|-8.5125	15.2971|15.2971	0.73916|0.73916	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|192;192;124;124;192;192;135;192;192	.|C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;.;.;MBNL1_HUMAN;.;.;.;.	F|I	191|192;124;192;135;192;100;192;192;124;192;124;192;124;192;192;95	.|ENSP00000282486:N192I;ENSP00000282488:N124I;ENSP00000347637:N192I;ENSP00000419347:N135I;ENSP00000319429:N192I;ENSP00000420680:N100I;ENSP00000420327:N192I;ENSP00000319374:N192I;ENSP00000437491:N124I;ENSP00000350064:N192I;ENSP00000418427:N124I;ENSP00000418108:N192I;ENSP00000417630:N124I;ENSP00000420103:N192I;ENSP00000418876:N192I;ENSP00000418508:N95I	.|ENSP00000282486:N192I	I|N	+|+	1|2	0|0	MBNL1|MBNL1	153645786|153645786	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.994000|0.994000	0.84299|0.84299	7.316000|7.316000	0.79007|0.79007	2.012000|2.012000	0.59069|0.59069	0.482000|0.482000	0.46254|0.46254	ATT|AAT		0.403	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		T	152163096	A	T	152163096	3	4	101	1	0	0	0	0	1	0	0	0	9353	101	4	5	589	5	MBNL1	3	152163096	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	30589431	152163096	45859334	17	6869											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		53	Substitution - Missense(53)	p.R88Q(102)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							107	102	104					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916876	G	A	178916876	3	1	101	1	0	0	0	0	1	0	0	0	11913	1058	37	2	265	2	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	26753780	178916876	19105554	18	6870											
TXK	7294	broad.mit.edu	37	chr4	48106929	48106929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaattacctcttgtctcaAtagatgttctgcctgatttc	8	18	6	9	0	3	3	1	2	3	1	5	3	3	3	2	0	2	1	2	0	4	6			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:48106929A>G	ENST00000264316.4	-	6	575	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	RNU6-838P_ENST00000363399.1_RNA|TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	164	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTTGTCTCAATAGATGTTCT	0.254																																						uc003gxx.4																			0		p.L163L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(490-492)Ttg>Ctg		Homo sapiens TXK tyrosine kinase (TXK), mRNA.							112	109	110					4																	48106929		2202	4287	6489	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48106929A>G	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.490T>C	4.37:g.48106929A>G						TXK_uc003gxy.1_Silent_p.L164L	p.L164L	NM_003328	NP_003319	P42681	TXK_HUMAN			5	576	-			164			SH2.		Q14220	Silent	SNP	ENST00000264316.4	37	c.490T>C	CCDS3480.1																																																																																				0.254	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		G	48106929	A	G	48106929	2	3	101	1	0	0	0	0	0	0	0	1	16783	98	4	4		4	TXK	4	48106929	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08		48106929	143047347	19	6871											
CCDC158	339965	broad.mit.edu	37	chr4	77283442	77283442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcaagctcccggatCtttgcatcttttttatcttt	5	18	6	12	1	4	0	1	0	3	0	5	1	5	1	2	2	2	2	2	2	2	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:77283442C>A	ENST00000388914.3	-	12	2009	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393																																						uc003hkb.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1855-1857)aaG>aaT		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.							124	119	121					4																	77283442		1886	4117	6003	SO:0001583	missense	339965							g.chr4:77283442C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1857G>T	4.37:g.77283442C>A	ENSP00000373566:p.Lys619Asn						p.K619N	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			11	2010	-			619					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1857G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706401	0.68615	.	.	ENSG00000163749	ENST00000388914	T	0.38077	1.16	5.74	2.68	0.31781	.	0.219123	0.37304	N	0.002149	T	0.25531	0.0621	N	0.14661	0.345	0.80722	D	1	D	0.56035	0.974	P	0.51415	0.669	T	0.03221	-1.1059	10	0.34782	T	0.22	.	5.1237	0.14873	0.0:0.5294:0.0:0.4706	.	619	Q5M9N0	CD158_HUMAN	N	619	ENSP00000373566:K619N	ENSP00000373566:K619N	K	-	3	2	CCDC158	77502466	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.259000	0.32956	0.781000	0.33589	0.563000	0.77884	AAG		0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		A	77283442	C	A	77283442	3	1	101	1	0	0	0	0	1	0	0	0	2790	912	32	5	1536	5	CCDC158	4	77283442	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	29176513	77283442	113870834	20	6872											
DNAH5	1767	broad.mit.edu	37	chr5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctcagcagtcagggCgaacttcaagtcagctgtaa	10	11	10	10	1	4	0	4	0	1	0	5	1	4	0	0	1	3	3	0	1	3	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:13871097C>T	ENST00000265104.4	-	24	3717	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1205	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTCAGGGCGAACTTCAAG	0.403									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3613-3615)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							78	79	78					5																	13871097		2202	4299	6501	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871097C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3613G>A	5.37:g.13871097C>T	ENSP00000265104:p.Ala1205Thr						p.A1205T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			23	3655	-	Lung NSC(4;0.00476)		1205			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3613G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	7.103	0.574570	0.13623	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	5.84	-0.97	0.10306	.	0.252609	0.40554	N	0.001072	T	0.19604	0.0471	L	0.53249	1.67	0.25648	N	0.986122	B	0.11235	0.004	B	0.12837	0.008	T	0.19647	-1.0299	10	0.29301	T	0.29	.	7.7442	0.28858	0.4776:0.4316:0.0:0.0908	.	1205	Q8TE73	DYH5_HUMAN	T	1205	ENSP00000265104:A1205T	ENSP00000265104:A1205T	A	-	1	0	DNAH5	13924097	0.400000	0.25295	0.002000	0.10522	0.060000	0.15804	0.779000	0.26746	-0.541000	0.06257	-0.152000	0.13540	GCC		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13871097	C	T	13871097	3	4	101	1	0	0	0	0	1	0	0	0	4604	768	27	1	10485	1	DNAH5	5	13871097	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		13871097	167044163	21	6873											
HEATR7B2	133558	broad.mit.edu	37	chr5	41051145	41051145	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcttgtttctcggacagaTtcctcttccttttcattctc	5	18	6	12	1	4	1	1	0	3	1	8	2	6	2	2	2	0	2	2	2	0	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:41051145T>C	ENST00000399564.4	-	13	1728	c.1278A>G	c.(1276-1278)gaA>gaG	p.E426E	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	426																	CTCGGACAGATTCCTCTTCCT	0.423																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1276-1278)gaA>gaG		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							85	86	86					5																	41051145		1847	4088	5935	SO:0001819	synonymous_variant	133558						binding	g.chr5:41051145T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1278A>G	5.37:g.41051145T>C						HEATR7B2_uc003jmi.4_5'UTR	p.E426E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1768	-			426					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.1278A>G	CCDS47202.1																																																																																				0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		C	41051145	T	C	41051145	2	2	101	1	0	0	0	0	0	0	0	1	7035	1490	52	4		4	HEATR7B2	5	41051145	Silent	SNP	T	TCGA-06-6391-01A-11D-1696-08	27180048	41051145	139864115	22	6874											
PCDHA3	56145	broad.mit.edu	37	chr5	140181903	140181903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcgctctgatcagcgTgtccgaccgcgactcaggag	8	8	12	13	5	4	1	3	1	1	0	6	4	5	2	2	1	1	1	2	1	0	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:140181903T>C	ENST00000522353.2	+	1	1121	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V374A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCAGCGTGTCCGACCGC	0.483																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1120-1122)gTg>gCg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							125	119	121					5																	140181903		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181903T>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1121T>C	5.37:g.140181903T>C	ENSP00000429808:p.Val374Ala					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V374A	p.V374A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1121	+			389			Cadherin 4.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1121T>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	14.25	2.478580	0.44044	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38077	1.16;1.16	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.37623	U	0.002008	T	0.41419	0.1158	N	0.13198	0.31	0.37200	D	0.904357	D;D	0.56035	0.962;0.974	P;D	0.65010	0.85;0.931	T	0.54761	-0.8245	10	0.66056	D	0.02	.	14.6095	0.68507	0.0:0.0:0.0:1.0	.	374;374	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	A	374	ENSP00000429808:V374A;ENSP00000434086:V374A	ENSP00000429808:V374A	V	+	2	0	PCDHA3	140162087	1.000000	0.71417	0.623000	0.29173	0.012000	0.07955	8.010000	0.88615	1.925000	0.55765	0.383000	0.25322	GTG		0.483	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		C	140181903	T	C	140181903	3	2	101	1	0	0	0	0	1	0	0	0	11525	1696	59	4	1123	4	PCDHA3	5	140181903	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	99130758	140181903	40733357	23	6875											
GLRA1	2741	broad.mit.edu	37	chr5	151230995	151230995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgggtggtcatggTgagcacagtggtgatgccta	7	10	17	7	0	2	2	1	2	1	0	2	3	2	3	1	5	3	2	1	5	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:151230995T>A	ENST00000455880.2	-	7	1154	c.868A>T	c.(868-870)Acc>Tcc	p.T290S	GLRA1_ENST00000274576.4_Missense_Mutation_p.T290S|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.T207S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	290					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGGTCATGGTGAGCACAGTG	0.547																																						uc003lut.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(868-870)Acc>Tcc		Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						129	113	119					5																	151230995		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151230995T>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.868A>T	5.37:g.151230995T>A	ENSP00000411593:p.Thr290Ser					GLRA1_uc003lur.3_Missense_Mutation_p.T290S|GLRA1_uc003lus.3_Missense_Mutation_p.T207S	p.T290S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	1155	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	290					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.868A>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615108	0.87359	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.84730	-1.89;-1.89;-1.89	5.2	5.2	0.72013	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.70108	2.13	0.58432	D	0.99999	D;D;D	0.89917	0.99;1.0;0.998	D;D;D	0.91635	0.932;0.999;0.998	D	0.92047	0.5645	10	0.56958	D	0.05	.	15.3687	0.74545	0.0:0.0:0.0:1.0	.	290;207;290	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	290;290;207	ENSP00000274576:T290S;ENSP00000411593:T290S;ENSP00000445913:T207S	ENSP00000274576:T290S	T	-	1	0	GLRA1	151211188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	2.086000	0.62901	0.533000	0.62120	ACC		0.547	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			A	151230995	T	A	151230995	3	1	101	1	0	0	0	0	1	0	0	0	6454	1696	59	5	517	5	GLRA1	5	151230995	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	11049092	151230995	29684265	24	6876											
ZNF165	7718	broad.mit.edu	37	chr6	28056507	28056507	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaagagacaatgggaaaaAgaatcaggggagtctcagag	18	5	14	4	0	2	3	2	0	1	3	3	6	2	5	0	3	0	1	0	3	6	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:28056507A>G	ENST00000377325.1	+	4	1273	c.717A>G	c.(715-717)aaA>aaG	p.K239K	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	239					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATGGGAAAAAGAATCAGGGG	0.433																																						uc021yro.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(715-717)aaA>aaG		Homo sapiens zinc finger protein 165 (ZNF165), mRNA.							92	103	99					6																	28056507		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056507A>G	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.717A>G	6.37:g.28056507A>G						ZNF165_uc003nkh.3_Silent_p.K239K|ZNF165_uc003nki.4_Silent_p.K239K|ZSCAN12P1_uc003nkj.4_5'Flank	p.K239K	NM_003447	NP_003438	P49910	ZN165_HUMAN			3	1544	+			239						Silent	SNP	ENST00000377325.1	37	c.717A>G	CCDS4643.1																																																																																				0.433	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		G	28056507	A	G	28056507	2	3	101	1	0	0	0	0	0	0	0	1	17737	69	3	4		4	ZNF165	6	28056507	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08		28056507	143058560	25	6877											
SLC26A8	116369	broad.mit.edu	37	chr6	35922972	35922972	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatccacgtagtgtaccAtggagaaatccaggatgatg	13	9	12	7	1	0	3	0	2	0	1	2	5	2	4	3	2	1	2	3	2	4	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:35922972A>T	ENST00000490799.1	-	17	2542	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.M730K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.M625K	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAGTGTACCATGGAGAAATC	0.547																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2188-2190)aTg>aAg		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							121	111	115					6																	35922972		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35922972A>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2189T>A	6.37:g.35922972A>T	ENSP00000417638:p.Met730Lys					SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M312K|SLC26A8_uc003oll.3_Missense_Mutation_p.M625K|SLC26A8_uc003oln.3_Missense_Mutation_p.M730K	p.M730K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN			16	2300	-			730			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2189T>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442849	0.63067	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.93307	-3.2;-3.2;-3.2	4.8	4.8	0.61643	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.071279	0.64402	D	0.000013	D	0.93413	0.7899	L	0.57536	1.79	0.45342	D	0.998332	D;D;D	0.76494	0.998;0.971;0.999	D;P;D	0.64776	0.924;0.61;0.929	D	0.92671	0.6150	10	0.39692	T	0.17	.	10.9168	0.47142	1.0:0.0:0.0:0.0	.	730;625;312	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	K	730;625;730	ENSP00000417638:M730K;ENSP00000378100:M625K;ENSP00000347778:M730K	ENSP00000347778:M730K	M	-	2	0	SLC26A8	36030950	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.894000	0.63206	2.150000	0.67090	0.533000	0.62120	ATG		0.547	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			T	35922972	A	T	35922972	3	4	101	1	0	0	0	0	1	0	0	0	14523	217	8	5	739	5	SLC26A8	6	35922972	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	7866465	35922972	135192095	26	6878											
EPM2A	7957	broad.mit.edu	37	chr6	145948736	145948736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagccgcggtggagcggCccaccccagcgttgcagtgc	7	4	15	15	4	0	1	0	0	0	1	0	2	0	2	4	3	5	2	4	3	0	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:145948736C>T	ENST00000367519.3	-	4	1337	c.812G>A	c.(811-813)gGc>gAc	p.G271D		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	271	Tyrosine-protein phosphatase.				autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GGTGGAGCGGCCCACCCCAGC	0.632																																						uc003qkw.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(811-813)gGc>gAc		Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.							51	51	51					6																	145948736		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145948736C>T	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.812G>A	6.37:g.145948736C>T	ENSP00000356489:p.Gly271Asp					EPM2A_uc003qkv.3_Missense_Mutation_p.G271D|EPM2A_uc010khr.3_Silent_p.G190G|EPM2A_uc003qkx.3_Missense_Mutation_p.G133D|EPM2A_uc003qku.3_Missense_Mutation_p.G117D	p.G271D	NM_005670	NP_005661	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	3	1169	-		Ovarian(120;0.162)	271			Tyrosine-protein phosphatase.		B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.812G>A	CCDS5206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.498270|5.498270	0.96355|0.96355	.|.	.|.	ENSG00000112425|ENSG00000112425	ENST00000435470|ENST00000367519;ENST00000392304;ENST00000324857	.|D	.|0.85861	.|-2.04	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90625|0.90625	0.7060|0.7060	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.995;0.997	D|D	0.89934|0.89934	0.4068|0.4068	5|10	.|0.54805	.|T	.|0.06	-25.5588|-25.5588	19.8761|19.8761	0.96870|0.96870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|271;271;133	.|O95278;O95278-2;E1P599	.|EPM2A_HUMAN;.;.	T|D	191|271	.|ENSP00000356489:G271D	.|ENSP00000320279:G271D	A|G	-|-	1|2	0|0	EPM2A|EPM2A	145990429|145990429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.487000|7.487000	0.81328|0.81328	2.704000|2.704000	0.92352|0.92352	0.557000|0.557000	0.71058|0.71058	GCC|GGC		0.632	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			T	145948736	C	T	145948736	3	4	101	1	0	0	0	0	1	0	0	0	5183	739	26	3	221	3	EPM2A	6	145948736	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	110025764	145948736	25166331	27	6879											
C7orf10	79783	broad.mit.edu	37	chr7	40899925	40899925	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttggcaggcccagctgtGagatacagtaagttcaagat	11	10	11	9	0	1	2	1	1	0	2	1	3	1	2	2	2	2	4	2	2	3	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899925G>C	ENST00000335693.4	+	14	1208	c.1185G>C	c.(1183-1185)gtG>gtC	p.V395V	C7orf10_ENST00000309930.5_Silent_p.V421V|C7orf10_ENST00000401647.2_Silent_p.V347V|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		395					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GCCCAGCTGTGAGATACAGTA	0.527																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1261-1263)gtG>gtC		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							86	95	92					7																	40899925		2051	4197	6248	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40899925G>C																												ENST00000335693.4:c.1185G>C	7.37:g.40899925G>C						C7orf10_uc003thn.2_Silent_p.V395V|C7orf10_uc003tho.2_Silent_p.V347V|C7orf10_uc003thp.2_Non-coding_Transcript	p.V421V	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			14	1287	+			395					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.1263G>C	CCDS55105.1																																																																																				0.527	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			C	40899925	G	C	40899925	2	2	101	1	0	0	0	0	0	0	0	1	2376	1277	45	5		5	C7orf10	7	40899925	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		40899925	118238738	28	6880			1	24		2	2	26	G		6.218163e-05
C7orf10	79783	broad.mit.edu	37	chr7	40899950	40899950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtaagttcaagatgtcaGaggccaggccgcccccgctg	10	6	12	13	2	2	2	2	0	0	2	2	2	2	2	4	2	0	3	4	2	2	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899950G>C	ENST00000335693.4	+	14	1233	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	C7orf10_ENST00000309930.5_Missense_Mutation_p.E430Q|C7orf10_ENST00000401647.2_Missense_Mutation_p.E356Q|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		404					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CAAGATGTCAGAGGCCAGGCC	0.552																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1288-1290)Gag>Cag		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							99	109	106					7																	40899950		2084	4222	6306	SO:0001583	missense	79783						transferase activity	g.chr7:40899950G>C																												ENST00000335693.4:c.1210G>C	7.37:g.40899950G>C	ENSP00000338475:p.Glu404Gln					C7orf10_uc003thn.2_Missense_Mutation_p.E404Q|C7orf10_uc003tho.2_Missense_Mutation_p.E356Q|C7orf10_uc003thp.2_Non-coding_Transcript	p.E430Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			14	1312	+			404					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1288G>C	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808538	0.50421	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.85629	-2.01;-0.01;-0.01	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.834843	0.10715	N	0.642366	T	0.81973	0.4936	L	0.48642	1.525	0.80722	D	1	B;B;P	0.38677	0.294;0.163;0.642	B;B;B	0.40134	0.102;0.131;0.32	T	0.77720	-0.2482	10	0.42905	T	0.14	-12.1652	9.2359	0.37466	0.0781:0.1475:0.7744:0.0	.	356;404;393	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	Q	430;356;404	ENSP00000312054:E430Q;ENSP00000385222:E356Q;ENSP00000338475:E404Q	ENSP00000312054:E430Q	E	+	1	0	C7orf10	40866475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.346000	0.44027	2.575000	0.86900	0.655000	0.94253	GAG		0.552	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			C	40899950	G	C	40899950	3	2	101	1	0	0	0	0	1	0	0	0	2376	943	33	5	1235	5	C7orf10	7	40899950	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	25	40899950	118238713	29	6881			1	24		2	2	26	G		6.218163e-05
STEAP4	79689	broad.mit.edu	37	chr7	87912074	87912074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccaagctgctttcggCaaagcatccagtggtcaagc	11	7	10	13	1	1	0	1	0	0	0	3	0	2	0	3	2	5	4	3	2	4	1	rs79363691		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:87912074C>A	ENST00000380079.4	-	3	967	c.866G>T	c.(865-867)tGc>tTc	p.C289F	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.C289F	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	289	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGCTTTCGGCAAAGCATCCA	0.478																																						uc022agz.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(865-867)tGc>tTc		Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.							76	75	76					7																	87912074		1987	4159	6146	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912074C>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.866G>T	7.37:g.87912074C>A	ENSP00000369419:p.Cys289Phe					STEAP4_uc003ujs.3_Missense_Mutation_p.C289F|STEAP4_uc010lek.3_Intron	p.C289F	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN			3	1089	-	Esophageal squamous(14;0.00802)		289			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.866G>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665488	0.88251	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.89552	-2.53;-2.53	6.08	6.08	0.98989	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94848	0.8011	10	0.62326	D	0.03	-8.8593	20.6721	0.99693	0.0:1.0:0.0:0.0	.	289;289	C9JS50;Q687X5	.;STEA4_HUMAN	F	289	ENSP00000369419:C289F;ENSP00000394399:C289F	ENSP00000369419:C289F	C	-	2	0	STEAP4	87750010	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.089000	0.71384	2.894000	0.99253	0.591000	0.81541	TGC		0.478	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		A	87912074	C	A	87912074	3	1	101	1	0	0	0	0	1	0	0	0	15279	710	25	5	525	5	STEAP4	7	87912074	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	47012124	87912074	71226589	30	6882											
EZH2	2146	broad.mit.edu	37	chr7	148506237	148506237	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatcctgtgatcaccgttAaccatcataactgcaaagag	13	10	6	12	1	2	2	2	1	0	1	3	2	3	2	4	0	3	2	4	0	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:148506237A>T	ENST00000460911.1	-	19	2194	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	EZH2_ENST00000476773.1_Silent_p.V651V|EZH2_ENST00000320356.2_Silent_p.V707V|EZH2_ENST00000541220.1_Silent_p.V651V|EZH2_ENST00000350995.2_Silent_p.V663V|EZH2_ENST00000483967.1_Silent_p.V693V|EZH2_ENST00000478654.1_Silent_p.V651V			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	702	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATCACCGTTAACCATCATAA	0.443			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(2104-2106)gtT>gtA		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.							125	113	117					7																	148506237		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148506237A>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2106T>A	7.37:g.148506237A>T						EZH2_uc022aov.1_Silent_p.V621V|EZH2_uc011kug.2_Silent_p.V651V|EZH2_uc003wfb.2_Silent_p.V707V|EZH2_uc003wfc.2_Silent_p.V663V|EZH2_uc011kuh.2_Silent_p.V693V	p.V702V	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		18	2299	-	Melanoma(164;0.15)		702			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.2106T>A	CCDS56516.1																																																																																				0.443	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		T	148506237	A	T	148506237	2	4	101	1	0	0	0	0	0	0	0	1	5334	349	13	5		5	EZH2	7	148506237	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08	60594163	148506237	10632426	31	6883											
ZFHX4	79776	broad.mit.edu	37	chr8	77766549	77766549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatcggaagacctccctcGgcctctcaaacaccggtccc	8	8	7	18	3	1	1	1	0	1	1	6	2	3	2	5	3	1	0	5	3	3	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr8:77766549G>A	ENST00000521891.2	+	10	7840	c.7392G>A	c.(7390-7392)tcG>tcA	p.S2464S	ZFHX4_ENST00000050961.6_Silent_p.S2419S|ZFHX4_ENST00000455469.2_Silent_p.S2419S|ZFHX4_ENST00000518282.1_Silent_p.S2438S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S2448S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCTCCCTCGGCCTCTCAAA	0.537										HNSCC(33;0.089)																												uc003yau.2																			2	Substitution - coding silent(2)	p.S2448S(2)	ovary(1)|endometrium(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7390-7392)tcG>tcA		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							100	148	132					8																	77766549		2084	4217	6301	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766549G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7392G>A	8.37:g.77766549G>A		HNSCC(33;0.089)				ZFHX4_uc003yaw.1_Silent_p.S2419S	p.S2464S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	7779	+			2419					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7392G>A	CCDS47878.2																																																																																				0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77766549	G	A	77766549	2	1	101	1	0	0	0	0	0	0	0	1	17632	1103	39	2		2	ZFHX4	8	77766549	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		77766549	68597473	32	6884											
IARS	3376	broad.mit.edu	37	chr9	95050515	95050515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacccgcaagtatatgtcCatagtgaggcagtccagttg	10	11	11	9	1	0	1	0	1	0	0	2	1	2	1	3	1	1	5	3	1	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:95050515C>T	ENST00000375643.3	-	3	435	c.169G>A	c.(169-171)Gga>Aga	p.G57R	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.G57R|IARS_ENST00000447699.2_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	57					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTATATGTCCATAGTGAGGC	0.368																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(169-171)Gga>Aga		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						97	91	93					9																	95050515		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050515C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.169G>A	9.37:g.95050515C>T	ENSP00000364794:p.Gly57Arg					IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I	p.G57R	NM_013417	NP_038203	P41252	SYIC_HUMAN			2	426	-			57					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.169G>A	CCDS6694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.005866|5.005866	0.93287|0.93287	.|.	.|.	ENSG00000196305|ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554|ENST00000543028;ENST00000421189	D;D;D|.	0.85629|.	-2.01;-2.01;-2.01|.	6.03|6.03	5.11|5.11	0.69529|0.69529	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92054|0.92054	0.7482|0.7482	H|H	0.99919|0.99919	4.95|4.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.95304|0.95304	0.8406|0.8406	10|6	0.87932|0.49607	D|T	0|0.09	-24.8254|-24.8254	16.2326|16.2326	0.82356|0.82356	0.1339:0.866:0.0:0.0|0.1339:0.866:0.0:0.0	.|.	57|.	P41252|.	SYIC_HUMAN|.	R|I	57|13	ENSP00000364794:G57R;ENSP00000406448:G57R;ENSP00000378922:G57R|.	ENSP00000364794:G57R|ENSP00000406483:M13I	G|M	-|-	1|3	0|0	IARS|IARS	94090336|94090336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.765000|7.765000	0.85310|0.85310	1.514000|1.514000	0.48869|0.48869	0.655000|0.655000	0.94253|0.94253	GGA|ATG		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		T	95050515	C	T	95050515	3	4	101	1	0	0	0	0	1	0	0	0	7473	603	21	3	3747	3	IARS	9	95050515	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		95050515	46162916	33	6885											
DNM1	1759	broad.mit.edu	37	chr9	130965824	130965824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttctctgccatcggccaGaacgcggacctcgacctgcc	6	7	10	18	4	1	1	0	0	1	1	4	3	1	2	6	2	3	0	6	2	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:130965824G>A	ENST00000372923.3	+	1	167	c.75G>A	c.(73-75)caG>caA	p.Q25Q	DNM1_ENST00000341179.7_Silent_p.Q25Q|CIZ1_ENST00000393608.1_Intron|DNM1_ENST00000486160.1_Silent_p.Q25Q|CIZ1_ENST00000372948.3_Intron|DNM1_ENST00000393594.3_Silent_p.Q25Q|DNM1_ENST00000475805.1_Silent_p.Q25Q	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	25					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCATCGGCCAGAACGCGGACC	0.692																																					GBM(113;146 1575 2722 28670 29921)	uc022bob.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(73-75)caG>caA		Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.							16	15	15					9																	130965824		2161	4240	6401	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130965824G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.75G>A	9.37:g.130965824G>A						CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Silent_p.Q25Q|DNM1_uc022bny.1_Silent_p.Q25Q|DNM1_uc022bnz.1_Silent_p.Q25Q|DNM1_uc022boa.1_Silent_p.Q25Q	p.Q25Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN			0	162	+			25					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.75G>A	CCDS6895.1																																																																																				0.692	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		A	130965824	G	A	130965824	2	1	101	1	0	0	0	0	0	0	0	1	4670	933	33	3		3	DNM1	9	130965824	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	35915309	130965824	10247607	34	6886											
SORBS1	10580	broad.mit.edu	37	chr10	97096883	97096883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgttatagatagaagcctCtggcagaggaggcaagggtg	12	8	16	5	0	1	3	0	0	1	3	1	4	1	4	1	4	1	3	1	4	5	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr10:97096883C>G	ENST00000361941.3	-	28	3060	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.E1012Q|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.E966Q|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGAAGCCTCTGGCAGAGGA	0.607																																						uc001kkp.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3034-3036)Gag>Cag		Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.							42	44	43					10																	97096883		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096883C>G	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3034G>C	10.37:g.97096883C>G	ENSP00000355136:p.Glu1012Gln					SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.2_Intron	p.E1012Q	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	27	3079	-		Colorectal(252;0.0429)	1012						Missense_Mutation	SNP	ENST00000361941.3	37	c.3034G>C	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081367	0.36758	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.08984	3.08;3.03;3.08	5.58	4.66	0.58398	.	0.000000	0.42682	D	0.000663	T	0.05823	0.0152	N	0.19112	0.55	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.12156	0.007;0.003	T	0.38950	-0.9637	10	0.23891	T	0.37	-15.5286	10.6409	0.45592	0.0:0.7947:0.134:0.0714	.	966;1012	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	Q	1012;966;1012	ENSP00000360293:E1012Q;ENSP00000360271:E966Q;ENSP00000355136:E1012Q	ENSP00000355136:E1012Q	E	-	1	0	SORBS1	97086873	0.995000	0.38212	0.996000	0.52242	0.930000	0.56654	3.263000	0.51546	1.330000	0.45394	0.561000	0.74099	GAG		0.607	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			G	97096883	C	G	97096883	3	3	101	1	0	0	0	0	1	0	0	0	14927	922	32	5	924	5	SORBS1	10	97096883	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		97096883	38437864	35	6887											
OR10Q1	219960	broad.mit.edu	37	chr11	57996044	57996044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaacatttgggcccCacatccagccaacgaaatgg	16	5	9	11	1	0	2	0	0	0	2	1	3	1	2	4	2	3	0	4	2	5	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:57996044C>T	ENST00000316770.2	-	1	346	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ATTTGGGCCCCACATCCAGCC	0.547																																						uc010rkd.2																			0		p.G102V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(304-306)Ggg>Agg		Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.							81	70	74					11																	57996044		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996044C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.304G>A	11.37:g.57996044C>T	ENSP00000314324:p.Gly102Arg						p.G102R	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			0	347	-		Breast(21;0.0589)	102					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.304G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	7.620	0.676638	0.14841	.	.	ENSG00000180475	ENST00000316770	T	0.13089	2.62	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000595	T	0.15003	0.0362	M	0.66439	2.03	0.09310	N	1	B	0.34200	0.441	B	0.32149	0.141	T	0.20571	-1.0271	10	0.87932	D	0	.	8.1454	0.31108	0.0:0.8163:0.0:0.1837	.	102	Q8NGQ4	O10Q1_HUMAN	R	102	ENSP00000314324:G102R	ENSP00000314324:G102R	G	-	1	0	OR10Q1	57752620	0.000000	0.05858	0.985000	0.45067	0.025000	0.11179	-0.687000	0.05156	2.217000	0.71921	0.557000	0.71058	GGG		0.547	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57996044	C	T	57996044	3	4	101	1	0	0	0	0	1	0	0	0	10916	594	21	3	659	3	OR10Q1	11	57996044	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		57996044	77010472	36	6888											
GAB2	9846	broad.mit.edu	37	chr11	77934481	77934481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgatcaggtttgaggttgCggttgacagggggtggctga	6	11	18	6	2	1	3	1	3	0	0	2	4	2	3	1	6	1	4	1	6	0	3	rs369351419		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:77934481C>T	ENST00000361507.4	-	6	1629	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	GAB2_ENST00000340149.2_Missense_Mutation_p.R477H	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	515					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTTGAGGTTGCGGTTGACAGG	0.547																																						uc001ozh.3																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1543-1545)cGc>cAc		Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.							145	133	137					11																	77934481		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77934481C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1544G>A	11.37:g.77934481C>T	ENSP00000354952:p.Arg515His					GAB2_uc001ozg.3_Missense_Mutation_p.R477H	p.R515H	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		5	1646	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		515					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1544G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753164	0.89753	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.34472	1.36;1.36	4.97	4.06	0.47325	.	0.000000	0.64402	U	0.000001	T	0.52581	0.1743	M	0.85462	2.755	0.80722	D	1	D	0.63880	0.993	P	0.50934	0.654	T	0.63976	-0.6515	10	0.87932	D	0	-18.6921	13.3925	0.60832	0.0:0.925:0.0:0.075	.	515	Q9UQC2	GAB2_HUMAN	H	477;515	ENSP00000343959:R477H;ENSP00000354952:R515H	ENSP00000343959:R477H	R	-	2	0	GAB2	77612129	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.259000	0.78381	1.331000	0.45412	0.561000	0.74099	CGC		0.547	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		T	77934481	C	T	77934481	3	4	101	1	0	0	0	0	1	0	0	0	6149	768	27	1	506	1	GAB2	11	77934481	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	19938437	77934481	57072035	37	6889											
PDGFD	80310	broad.mit.edu	37	chr11	103797801	103797801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatattgaccgagtaatTcctgggagtgcaactgtaac	11	13	9	8	1	1	1	0	1	1	0	2	3	2	2	2	1	3	3	2	1	5	6			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:103797801T>C	ENST00000393158.2	-	6	1005	c.826A>G	c.(826-828)Aat>Gat	p.N276D	PDGFD_ENST00000302251.5_Missense_Mutation_p.N270D			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	276					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACCGAGTAATTCCTGGGAGTG	0.478																																						uc001phq.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(826-828)Aat>Gat		Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.							178	153	161					11																	103797801		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103797801T>C	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.826A>G	11.37:g.103797801T>C	ENSP00000376865:p.Asn276Asp					PDGFD_uc001php.3_Missense_Mutation_p.N270D	p.N276D	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	5	1198	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	276					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.826A>G	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	32	5.167462	0.94768	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.29142	1.58;1.59	5.87	5.87	0.94306	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	T	0.61535	-0.7043	10	0.87932	D	0	-30.9391	16.2718	0.82624	0.0:0.0:0.0:1.0	.	276;270	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	D	276;270	ENSP00000376865:N276D;ENSP00000302193:N270D	ENSP00000302193:N270D	N	-	1	0	PDGFD	103303011	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.671000	0.83941	2.239000	0.73571	0.528000	0.53228	AAT		0.478	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		C	103797801	T	C	103797801	3	2	101	1	0	0	0	0	1	0	0	0	11660	1783	62	4	294	4	PDGFD	11	103797801	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	25863320	103797801	31208715	38	6890											
CD163	9332	broad.mit.edu	37	chr12	7639374	7639374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctactctcccagcacagcGacctcctccatttaccaggc	8	9	5	19	1	2	0	0	0	2	0	5	1	4	0	5	1	4	1	5	1	2	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:7639374G>A	ENST00000359156.4	-	10	2381	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R715C|CD163_ENST00000396620.3_Missense_Mutation_p.R760C|CD163_ENST00000432237.2_Missense_Mutation_p.R727C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	727	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCAGCACAGCGACCTCCTCCA	0.458																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2179-2181)Cgc>Tgc		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							88	85	86					12																	7639374		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639374G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2179C>T	12.37:g.7639374G>A	ENSP00000352071:p.Arg727Cys					CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C	p.R727C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			9	2307	-			727			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2179C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817926	0.71028	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.54	4.62	0.57501	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.69142	0.3078	H	0.94503	3.545	0.47819	D	0.999527	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.77557	0.99;0.897;0.99	T	0.78650	-0.2121	10	0.72032	D	0.01	.	13.6108	0.62076	0.0:0.0:0.8435:0.1565	.	760;727;727	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	727;715;760;727	ENSP00000352071:R727C;ENSP00000444071:R715C;ENSP00000379863:R760C;ENSP00000403885:R727C	ENSP00000352071:R727C	R	-	1	0	CD163	7530641	0.148000	0.22702	0.910000	0.35882	0.917000	0.54804	2.789000	0.47813	1.440000	0.47531	0.650000	0.86243	CGC		0.458	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7639374	G	A	7639374	3	1	101	1	0	0	0	0	1	0	0	0	2967	1058	37	2	1319	2	CD163	12	7639374	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		7639374	126212521	39	6891											
GUCY2C	2984	broad.mit.edu	37	chr12	14840978	14840978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaatacatgaaagtagcGttcacagtcacatttaggcc	13	10	8	10	2	2	1	2	1	0	0	3	2	3	1	2	1	2	2	2	1	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:14840978G>A	ENST00000261170.3	-	2	373	c.237C>T	c.(235-237)aaC>aaT	p.N79N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	79					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGAAAGTAGCGTTCACAGTCA	0.433																																						uc001rcd.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(235-237)aaC>aaT		Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.							95	92	93					12																	14840978		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14840978G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.237C>T	12.37:g.14840978G>A						GUCY2C_uc009zhz.2_Silent_p.N79N	p.N79N	NM_004963	NP_004954	P25092	GUC2C_HUMAN			1	374	-			79					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.237C>T	CCDS8664.1																																																																																				0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			A	14840978	G	A	14840978	2	1	101	1	0	0	0	0	0	0	0	1	6896	1136	40	1		1	GUCY2C	12	14840978	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	7201604	14840978	119010917	40	6892											
RERGL	79785	broad.mit.edu	37	chr12	18237578	18237578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagctcacttgtgaGggagaattttgctttctgtg	8	14	12	7	0	2	3	1	2	1	1	2	4	2	3	1	1	2	2	1	1	2	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:18237578G>T	ENST00000229002.2	-	5	414	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Missense_Mutation_p.L69I	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	70	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTTGTGAGGGAGAATTTT	0.383																																						uc001rdq.3																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(208-210)Ctc>Atc		Homo sapiens RERG/RAS-like (RERGL), mRNA.							115	111	113					12																	18237578		2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237578G>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.208C>A	12.37:g.18237578G>T	ENSP00000229002:p.Leu70Ile						p.L70I	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			4	402	-			70			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.208C>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172334	0.57584	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.80123	-1.34;-1.34	4.79	4.79	0.61399	.	0.647828	0.15871	N	0.240541	T	0.80717	0.4676	L	0.27975	0.815	0.80722	D	1	B;D	0.56968	0.22;0.978	B;P	0.57620	0.295;0.824	T	0.76443	-0.2957	10	0.23302	T	0.38	.	16.8961	0.86101	0.0:0.0:1.0:0.0	.	69;70	F5H686;Q9H628	.;RERGL_HUMAN	I	70;69	ENSP00000229002:L70I;ENSP00000437814:L69I	ENSP00000229002:L70I	L	-	1	0	RERGL	18128845	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.585000	0.60977	2.599000	0.87857	0.467000	0.42956	CTC		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		T	18237578	G	T	18237578	3	4	101	1	0	0	0	0	1	0	0	0	13233	1000	35	5	417	5	RERGL	12	18237578	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	3396600	18237578	115614317	41	6893											
C12orf40	283461	broad.mit.edu	37	chr12	40114778	40114778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagttctcagtgaaaaatAatacagatcagtttccacag	16	10	6	9	0	2	2	2	1	1	1	4	2	3	2	2	0	1	2	2	0	4	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114778A>G	ENST00000324616.5	+	13	1838	c.1684A>G	c.(1684-1686)Aat>Gat	p.N562D		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	562								p.N562D(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTGAAAAATAATACAGATCA	0.393																																						uc001rmc.3																			2	Substitution - Missense(2)	p.N562D(4)	breast(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1684-1686)Aat>Gat		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							77	75	76					12																	40114778		1859	4105	5964	SO:0001583	missense	283461							g.chr12:40114778A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1684A>G	12.37:g.40114778A>G	ENSP00000317671:p.Asn562Asp					C12orf40_uc009zjv.1_Intron	p.N562D	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			12	1851	+			562					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1684A>G	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324303	0.41197	.	.	ENSG00000180116	ENST00000324616	T	0.60171	0.21	4.29	1.96	0.26148	.	0.681258	0.13574	N	0.377838	T	0.42381	0.1200	L	0.29908	0.895	0.09310	N	1	B	0.21225	0.053	B	0.25759	0.063	T	0.35151	-0.9800	10	0.51188	T	0.08	.	5.7311	0.18040	0.7861:0.0:0.2139:0.0	.	562	Q86WS4	CL040_HUMAN	D	562	ENSP00000317671:N562D	ENSP00000317671:N562D	N	+	1	0	C12orf40	38401045	0.022000	0.18835	0.000000	0.03702	0.010000	0.07245	0.423000	0.21313	0.447000	0.26695	-0.334000	0.08254	AAT		0.393	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		G	40114778	A	G	40114778	3	3	101	1	0	0	0	0	1	0	0	0	1686	362	13	4	1734	4	C12orf40	12	40114778	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	21877200	40114778	93737117	42	6894			2	25		3	3	206	A		1.293236e-07
C12orf40	283461	broad.mit.edu	37	chr12	40114932	40114932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattagatgttgccatacAgtgtgatctaatttcaaaat	16	14	6	5	0	2	2	1	1	1	1	2	2	2	2	1	0	2	1	1	0	7	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114932A>G	ENST00000324616.5	+	13	1992	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	613										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GTTGCCATACAGTGTGATCTA	0.408																																						uc001rmc.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1837-1839)cAg>cGg		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							145	139	141					12																	40114932		1950	4148	6098	SO:0001583	missense	283461							g.chr12:40114932A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1838A>G	12.37:g.40114932A>G	ENSP00000317671:p.Gln613Arg					C12orf40_uc009zjv.1_Intron	p.Q613R	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			12	2005	+			613					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1838A>G	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701366	0.68501	.	.	ENSG00000180116	ENST00000324616	T	0.63255	-0.03	4.79	4.79	0.61399	.	0.000000	0.48286	D	0.000196	T	0.68366	0.2993	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71182	-0.4668	10	0.72032	D	0.01	.	11.2882	0.49234	1.0:0.0:0.0:0.0	.	613	Q86WS4	CL040_HUMAN	R	613	ENSP00000317671:Q613R	ENSP00000317671:Q613R	Q	+	2	0	C12orf40	38401199	1.000000	0.71417	0.972000	0.41901	0.863000	0.49368	4.543000	0.60684	2.112000	0.64535	0.377000	0.23210	CAG		0.408	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		G	40114932	A	G	40114932	3	3	101	1	0	0	0	0	1	0	0	0	1686	188	7	4	1888	4	C12orf40	12	40114932	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	154	40114932	93736963	43	6895			2	25		3	3	206	A		1.293236e-07
C12orf40	283461	broad.mit.edu	37	chr12	40114983	40114983	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgatgtttctctttgcaAccttgaaaggtgcagtggaa	11	13	11	6	0	1	2	0	2	1	0	2	3	1	3	1	2	3	3	1	2	4	3	rs200287146		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114983A>C	ENST00000324616.5	+	13	2043	c.1889A>C	c.(1888-1890)aAc>aCc	p.N630T		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	630								p.N630S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCTCTTTGCAACCTTGAAAGG	0.363																																						uc001rmc.3																			1	Substitution - Missense(1)	p.N630S(2)	skin(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1888-1890)aAc>aCc		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							124	118	120					12																	40114983		1879	4120	5999	SO:0001583	missense	283461							g.chr12:40114983A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1889A>C	12.37:g.40114983A>C	ENSP00000317671:p.Asn630Thr					C12orf40_uc009zjv.1_Intron	p.N630T	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			12	2056	+			630					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1889A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295422	0.23564	.	.	ENSG00000180116	ENST00000324616	T	0.44083	0.93	4.15	-4.68	0.03309	.	1.269010	0.05564	N	0.569805	T	0.23572	0.0570	L	0.27053	0.805	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.17961	-1.0352	10	0.40728	T	0.16	.	0.4062	0.00433	0.2608:0.1526:0.2876:0.299	.	630	Q86WS4	CL040_HUMAN	T	630	ENSP00000317671:N630T	ENSP00000317671:N630T	N	+	2	0	C12orf40	38401250	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.145000	0.16157	-0.797000	0.04450	0.377000	0.23210	AAC		0.363	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		C	40114983	A	C	40114983	3	2	101	1	0	0	0	0	1	0	0	0	1686	43	2	5	1939	5	C12orf40	12	40114983	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	51	40114983	93736912	44	6896			2	25		3	3	206	A		1.293236e-07
SLC2A13	114134	broad.mit.edu	37	chr12	40153845	40153845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattattccacatcagaagCatcattgtcagaaagatgat	17	11	6	7	0	3	4	3	1	0	3	4	4	4	4	1	0	1	1	1	0	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40153845C>T	ENST00000280871.4	-	10	1980	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	644					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACATCAGAAGCATCATTGTCA	0.383										HNSCC(50;0.14)																												uc010skm.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1930-1932)Gct>Act		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.							115	111	112					12																	40153845		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40153845C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1930G>A	12.37:g.40153845C>T	ENSP00000280871:p.Ala644Thr	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron	p.A644T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			9	1981	-		Lung NSC(34;0.105)|all_lung(34;0.123)	644					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1930G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702449	0.88924	.	.	ENSG00000151229	ENST00000280871	D	0.82344	-1.6	5.33	4.43	0.53597	.	0.136283	0.48767	D	0.000174	T	0.78432	0.4282	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.47528	0.549	T	0.80425	-0.1388	10	0.52906	T	0.07	-15.275	16.1304	0.81428	0.0:0.8664:0.1336:0.0	.	644	Q96QE2	MYCT_HUMAN	T	644	ENSP00000280871:A644T	ENSP00000280871:A644T	A	-	1	0	SLC2A13	38440112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.397000	0.59690	1.218000	0.43458	0.561000	0.74099	GCT		0.383	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			T	40153845	C	T	40153845	3	4	101	1	0	0	0	0	1	0	0	0	14542	710	25	3	20	3	SLC2A13	12	40153845	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	38862	40153845	93698050	45	6897											
R3HDM2	22864	broad.mit.edu	37	chr12	57677642	57677642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgcactgccgcctttaCtgctgccgatgctgtcacct	4	12	8	17	3	1	0	1	0	0	0	2	1	2	0	5	0	5	3	5	0	1	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:57677642C>G	ENST00000347140.3	-	13	1484	c.1094G>C	c.(1093-1095)aGt>aCt	p.S365T	R3HDM2_ENST00000413953.2_Missense_Mutation_p.S92T|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S365T|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S26T|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S379T|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S365T			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	365	Ser-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGCCTTTACTGCTGCCGAT	0.532																																						uc009zpm.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1093-1095)aGt>aCt		Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.							204	185	192					12																	57677642		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57677642C>G	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1094G>C	12.37:g.57677642C>G	ENSP00000317903:p.Ser365Thr					R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T	p.S365T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			10	1129	-			365			Ser-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1094G>C	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839407	0.32513	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000547262	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.8;1.9;1.82;1.9;0.8;1.38;1.94;0.79	4.89	3.98	0.46160	.	0.093342	0.85682	D	0.000000	T	0.24044	0.0582	N	0.12637	0.245	0.33958	D	0.645213	B;B;B;B	0.27791	0.189;0.189;0.189;0.039	B;B;B;B	0.25506	0.024;0.024;0.024;0.061	T	0.25572	-1.0128	10	0.10377	T	0.69	-7.1558	9.1045	0.36689	0.0:0.8292:0.0:0.1708	.	365;379;365;92	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	T	92;92;365;379;365;26;130;365;235	ENSP00000409146:S92T;ENSP00000377400:S92T;ENSP00000317903:S365T;ENSP00000385839:S379T;ENSP00000351784:S365T;ENSP00000408536:S26T;ENSP00000394676:S130T;ENSP00000385169:S365T;ENSP00000450411:S235T	ENSP00000317903:S365T	S	-	2	0	R3HDM2	55963909	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	1.434000	0.34958	2.544000	0.85801	0.555000	0.69702	AGT		0.532	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		G	57677642	C	G	57677642	3	3	101	1	0	0	0	0	1	0	0	0	12888	565	20	5	1884	5	R3HDM2	12	57677642	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	17523797	57677642	76174253	46	6898											
PTPRR	5801	broad.mit.edu	37	chr12	71286523	71286523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagatcttgaccatccatgGccagcagattgagagacggg	12	7	12	10	1	1	5	0	2	1	3	2	6	2	5	3	2	1	1	3	2	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:71286523G>A	ENST00000283228.2	-	2	745	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	98					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACCATCCATGGCCAGCAGATT	0.458																																						uc001swi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(292-294)gCc>gTc		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.							198	189	192					12																	71286523		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286523G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.293C>T	12.37:g.71286523G>A	ENSP00000283228:p.Ala98Val						p.A98V	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	1	707	-			98					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.293C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738533	0.69304	.	.	ENSG00000153233	ENST00000283228	T	0.05649	3.41	6.05	6.05	0.98169	.	0.000000	0.41396	U	0.000887	T	0.07773	0.0195	L	0.29908	0.895	0.80722	D	1	P	0.42456	0.78	B	0.38106	0.265	T	0.08046	-1.0741	10	0.87932	D	0	-9.8689	19.5894	0.95501	0.0:0.0:1.0:0.0	.	98	Q15256	PTPRR_HUMAN	V	98	ENSP00000283228:A98V	ENSP00000283228:A98V	A	-	2	0	PTPRR	69572790	1.000000	0.71417	0.893000	0.35052	0.192000	0.23643	4.021000	0.57196	2.878000	0.98634	0.650000	0.86243	GCC		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		A	71286523	G	A	71286523	3	1	101	1	0	0	0	0	1	0	0	0	12810	1203	42	3	1732	3	PTPRR	12	71286523	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	13608881	71286523	62565372	47	6899											
MYF5	4617	broad.mit.edu	37	chr12	81110965	81110965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtggctgccttcggagcGcacaaagcagagctgcaggg	9	5	16	11	3	0	1	0	0	0	1	1	3	0	2	1	3	5	5	1	3	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:81110965G>A	ENST00000228644.3	+	1	275	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	41					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617																																						uc001szg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(121-123)gcG>gcA		Homo sapiens myogenic factor 5 (MYF5), mRNA.							37	34	35					12																	81110965		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110965G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.123G>A	12.37:g.81110965G>A							p.A41A	NM_005593	NP_005584	P13349	MYF5_HUMAN			0	258	+			41					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.123G>A	CCDS9020.1																																																																																				0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		A	81110965	G	A	81110965	2	1	101	1	0	0	0	0	0	0	0	1	10027	1074	38	1		1	MYF5	12	81110965	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	9824442	81110965	52740930	48	6900											
ALX1	8092	broad.mit.edu	37	chr12	85695019	85695019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgacacttcctcctgtatGacaccttattctcactcgcc	7	13	5	16	2	1	2	1	2	1	0	5	2	3	2	4	0	0	1	4	0	2	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:85695019G>A	ENST00000316824.3	+	4	902	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	249					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTCCTGTATGACACCTTATT	0.453																																						uc001tae.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(745-747)atG>atA		Homo sapiens ALX homeobox 1 (ALX1), mRNA.							148	136	140					12																	85695019		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695019G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.747G>A	12.37:g.85695019G>A	ENSP00000315417:p.Met249Ile						p.M249I	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	751	+			249					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.747G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125110	0.37533	.	.	ENSG00000180318	ENST00000316824	D	0.92299	-3.01	5.99	5.99	0.97316	.	0.132226	0.64402	D	0.000001	D	0.92231	0.7536	L	0.55213	1.73	0.49483	D	0.999791	P	0.48998	0.918	P	0.46110	0.504	D	0.91609	0.5301	10	0.48119	T	0.1	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	249	Q15699	ALX1_HUMAN	I	249	ENSP00000315417:M249I	ENSP00000315417:M249I	M	+	3	0	ALX1	84219150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.174000	0.58256	2.840000	0.97914	0.655000	0.94253	ATG		0.453	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		A	85695019	G	A	85695019	3	1	101	1	0	0	0	0	1	0	0	0	556	1290	45	3	761	3	ALX1	12	85695019	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	4584054	85695019	48156876	49	6901											
HAL	3034	broad.mit.edu	37	chr12	96389510	96389510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttgtccagcaggcccaggCccttgcaccggcgcacaagg	7	5	13	16	3	0	0	0	0	0	0	1	0	1	0	4	4	2	4	4	4	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:96389510C>T	ENST00000261208.3	-	2	547	c.179G>A	c.(178-180)gGc>gAc	p.G60D	RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.G60D	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	60					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGGCCCAGGCCCTTGCACCG	0.642																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(178-180)gGc>gAc		Homo sapiens histidine ammonia-lyase (HAL), mRNA.	L-Histidine(DB00117)						63	55	58					12																	96389510		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389510C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.179G>A	12.37:g.96389510C>T	ENSP00000261208:p.Gly60Asp					HAL_uc010sux.1_Missense_Mutation_p.G60D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	p.G60D	NM_002108	NP_002099	P42357	HUTH_HUMAN			1	476	-			60					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.179G>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157843	0.94686	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.87809	-1.41;-1.35;-2.3	5.29	5.29	0.74685	.	0.044283	0.85682	D	0.000000	D	0.89842	0.6832	L	0.57536	1.79	0.80722	D	1	D;D	0.59357	0.985;0.969	P;B	0.51657	0.676;0.439	D	0.90767	0.4669	10	0.72032	D	0.01	-21.3947	19.2839	0.94063	0.0:1.0:0.0:0.0	.	60;60	F5GXF2;P42357	.;HUTH_HUMAN	D	60	ENSP00000261208:G60D;ENSP00000440861:G60D;ENSP00000450372:G60D	ENSP00000261208:G60D	G	-	2	0	HAL	94913641	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.445000	0.80570	2.629000	0.89072	0.561000	0.74099	GGC		0.642	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			T	96389510	C	T	96389510	3	4	101	1	0	0	0	0	1	0	0	0	6947	739	26	3	1874	3	HAL	12	96389510	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	10694491	96389510	37462385	50	6902											
KL	9365	broad.mit.edu	37	chr13	33629339	33629339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaaagtcttcagccttgTtctaccaaaagctgatagag	12	11	8	10	0	3	2	1	1	2	1	3	2	3	2	3	0	4	2	3	0	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:33629339T>C	ENST00000380099.3	+	3	1494	c.1486T>C	c.(1486-1488)Ttc>Ctc	p.F496L	KL_ENST00000426690.2_Missense_Mutation_p.F189L|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	496	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCAGCCTTGTTCTACCAAAA	0.463																																						uc001uus.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1486-1488)Ttc>Ctc		Homo sapiens klotho (KL), mRNA.							172	151	159					13																	33629339		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33629339T>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1486T>C	13.37:g.33629339T>C	ENSP00000369442:p.Phe496Leu					KL_uc001uur.1_Missense_Mutation_p.F189L	p.F496L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1494	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	496			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1486T>C	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883915	0.91814	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.36520	1.25;1.25	6.03	6.03	0.97812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.55834	1.745	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.79108	0.932;0.992	T	0.56798	-0.7919	10	0.59425	D	0.04	-33.028	16.5582	0.84512	0.0:0.0:0.0:1.0	.	496;189	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	L	189;496	ENSP00000399513:F189L;ENSP00000369442:F496L	ENSP00000369442:F496L	F	+	1	0	KL	32527339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.090000	0.64498	2.308000	0.77769	0.533000	0.62120	TTC		0.463	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			C	33629339	T	C	33629339	3	2	101	1	0	0	0	0	1	0	0	0	8331	1725	60	4	1496	4	KL	13	33629339	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08		33629339	81540539	51	6903											
MYO16	23026	broad.mit.edu	37	chr13	109859183	109859183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgggacaccaccatttGatgtggcctgaactgcagac	9	9	11	12	0	1	3	0	2	1	1	1	4	1	4	3	2	2	2	3	2	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:109859183G>A	ENST00000357550.2	+	34	5617	c.5576G>A	c.(5575-5577)tGa>tAa	p.*1859*	MYO16_ENST00000356711.2_Silent_p.*1859*	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCACCATTTGATGTGGCCTG	0.572																																						uc010agk.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5641-5643)tGa>tAa		Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.							26	24	25					13																	109859183		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109859183G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5576G>A	13.37:g.109859183G>A						MYO16_uc001vqt.1_Silent_p.*1859*	p.*1881*	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		34	6264	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		0						Silent	SNP	ENST00000357550.2	37	c.5642G>A	CCDS32008.1																																																																																				0.572	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109859183	G	A	109859183	2	1	101	1	0	0	0	0	0	0	0	1	10064	1285	45	3		3	MYO16	13	109859183	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	76229844	109859183	5310695	52	6904											
OR5AU1	390445	broad.mit.edu	37	chr14	21623219	21623219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagatgacagcaactgtgcgGtcctgggtcaaggagtagct	10	9	14	8	1	1	2	1	1	0	1	2	3	2	3	1	3	4	3	1	3	4	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:21623219G>A	ENST00000304418.3	-	1	1003	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAACTGTGCGGTCCTGGGTCA	0.493																																						uc010tlp.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(964-966)gaC>gaT		Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.							114	107	109					14																	21623219		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623219G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.966C>T	14.37:g.21623219G>A							p.D322D	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	0	966	-	all_cancers(95;0.00238)		322					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.966C>T	CCDS32042.1																																																																																				0.493	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			A	21623219	G	A	21623219	2	1	101	1	0	0	0	0	0	0	0	1	11147	1252	44	3		3	OR5AU1	14	21623219	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		21623219	85726321	53	6905											
HEATR5A	25938	broad.mit.edu	37	chr14	31782317	31782317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgaacatgatccatttCtgataccgtcttctaaacag	12	13	6	10	1	3	4	0	4	3	0	4	4	4	4	2	0	3	0	2	0	4	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:31782317C>T	ENST00000389961.3	-	27	4279	c.4280G>A	c.(4279-4281)aGa>aAa	p.R1427K	HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1433K|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1140K|AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1427K			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1427										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGATCCATTTCTGATACCGTC	0.398																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(4297-4299)aGa>aAa		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							267	259	261					14																	31782317		1970	4151	6121	SO:0001583	missense	25938						binding	g.chr14:31782317C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4280G>A	14.37:g.31782317C>T	ENSP00000374611:p.Arg1427Lys					HEATR5A_uc010ami.3_Missense_Mutation_p.R1038K	p.R1433K	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	27	4483	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1427					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.4298G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.912|6.912	0.537786|0.537786	0.13188|0.13188	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.41400	.|1.0;1.0;1.0;1.0	4.81|4.81	3.92|3.92	0.45320|0.45320	.|.	.|0.290510	.|0.38005	.|N	.|0.001854	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.10450	.|0.005	T|T	0.08249|0.08249	-1.0731|-1.0731	5|10	.|0.09084	.|T	.|0.74	.|.	9.5225|9.5225	0.39145|0.39145	0.0:0.8385:0.0:0.1615|0.0:0.8385:0.0:0.1615	.|.	.|1427	.|Q86XA9-2	.|.	K|K	1061|1427;1427;1140;1433	.|ENSP00000374611:R1427K;ENSP00000405407:R1427K;ENSP00000408681:R1140K;ENSP00000437968:R1433K	.|ENSP00000374611:R1427K	E|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30852068|30852068	0.908000|0.908000	0.30866|0.30866	0.161000|0.161000	0.22692|0.22692	0.314000|0.314000	0.28054|0.28054	1.573000|1.573000	0.36472|0.36472	1.149000|1.149000	0.42402|0.42402	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.398	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		T	31782317	C	T	31782317	3	4	101	1	0	0	0	0	1	0	0	0	7031	913	32	3	1878	3	HEATR5A	14	31782317	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	10159098	31782317	75567223	54	6906											
SRP54	6729	broad.mit.edu	37	chr14	35470222	35470222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtatttaaagaacttgTgaaggtaaaagtatatgaag	16	13	10	2	0	0	3	0	2	0	1	0	3	0	3	0	1	2	4	0	1	10	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:35470222T>C	ENST00000556994.1	+	5	648	c.251T>C	c.(250-252)gTg>gCg	p.V84A	SRP54_ENST00000555557.1_Missense_Mutation_p.V20A|SRP54_ENST00000546080.1_Missense_Mutation_p.V35A|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000216774.6_Missense_Mutation_p.V84A			P61011	SRP54_HUMAN	signal recognition particle 54kDa	84	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAAGAACTTGTGAAGGTAAAA	0.313																																						uc001wso.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(250-252)gTg>gCg		Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.							65	62	63					14																	35470222		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35470222T>C	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.251T>C	14.37:g.35470222T>C	ENSP00000451818:p.Val84Ala					SRP54_uc010tpp.2_Missense_Mutation_p.V35A|SRP54_uc010tpq.2_Missense_Mutation_p.V20A	p.V84A	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	3	602	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		84			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.251T>C	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.223078	0.79464	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.64	5.64	0.86602	Signal recognition particle, SRP54 subunit, helical bundle (3);	0.056753	0.64402	D	0.000001	T	0.61198	0.2328	L	0.46947	1.48	0.80722	D	1	B;B	0.33883	0.229;0.43	B;B	0.38880	0.194;0.284	T	0.62378	-0.6867	9	0.49607	T	0.09	-19.9822	16.1689	0.81788	0.0:0.0:0.0:1.0	.	35;84	B4DUW6;P61011	.;SRP54_HUMAN	A	84;84;35;20	.	ENSP00000216774:V84A	V	+	2	0	SRP54	34539973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.816000	0.86201	2.278000	0.76064	0.523000	0.50628	GTG		0.313	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		C	35470222	T	C	35470222	3	2	101	1	0	0	0	0	1	0	0	0	15154	1696	59	4	261	4	SRP54	14	35470222	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	3687905	35470222	71879318	55	6907											
SPINT1	6692	broad.mit.edu	37	chr15	41137192	41137192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacgagggaagtgtaccGctcctaccgccagctgcgga	8	6	12	15	4	1	0	1	0	0	0	2	3	2	2	5	2	4	3	5	2	3	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr15:41137192G>A	ENST00000344051.4	+	2	674	c.440G>A	c.(439-441)cGc>cAc	p.R147H	RP11-532F12.5_ENST00000568419.1_RNA|SPINT1_ENST00000562057.1_Missense_Mutation_p.R147H|RP11-532F12.5_ENST00000565315.1_RNA|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000564302.1_RNA|SPINT1_ENST00000431806.1_Missense_Mutation_p.R147H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	147					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAAGTGTACCGCTCCTACCGC	0.582																																						uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(439-441)cGc>cAc		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.							37	38	38					15																	41137192		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41137192G>A		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.440G>A	15.37:g.41137192G>A	ENSP00000342098:p.Arg147His					SPINT1_uc001znb.3_Missense_Mutation_p.R147H|SPINT1_uc001znc.3_Missense_Mutation_p.R147H|SPINT1_uc010ucs.2_Missense_Mutation_p.R147H	p.R147H	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	644	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	147					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.440G>A	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733394	0.30684	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95447	-3.71;-3.71	5.46	0.861	0.19048	.	1.285790	0.04575	N	0.393991	D	0.91088	0.7195	L	0.31294	0.92	0.09310	N	0.999991	B;B;B	0.12013	0.005;0.003;0.004	B;B;B	0.09377	0.001;0.004;0.002	T	0.80549	-0.1333	10	0.42905	T	0.14	-9.1259	6.3924	0.21593	0.5857:0.0:0.4143:0.0	.	147;147;147	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	H	147;114;147	ENSP00000342098:R147H;ENSP00000409935:R147H	ENSP00000342098:R147H	R	+	2	0	SPINT1	38924484	0.950000	0.32346	0.551000	0.28230	0.411000	0.31082	0.527000	0.22987	0.269000	0.21961	0.563000	0.77884	CGC		0.582	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		A	41137192	G	A	41137192	3	1	101	1	0	0	0	0	1	0	0	0	15067	1087	38	1	442	1	SPINT1	15	41137192	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		41137192	61394200	56	6908											
TPSAB1	7177	broad.mit.edu	37	chr16	1291199	1291199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtcgggggtcaggAggcccccaggagcaagtggc	7	4	19	11	2	1	0	1	0	0	0	3	2	1	2	2	7	1	2	2	7	1	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:1291199A>G	ENST00000338844.3	+	3	140	c.107A>G	c.(106-108)gAg>gGg	p.E36G	TPSAB1_ENST00000461509.2_Missense_Mutation_p.E43G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGGGGTCAGGAGGCCCCCAGG	0.711																																						uc002ckz.3																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(106-108)gAg>gGg		Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.							43	43	43					16																	1291199		2199	4300	6499	SO:0001583	missense	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291199A>G	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.107A>G	16.37:g.1291199A>G	ENSP00000343577:p.Glu36Gly					TPSAB1_uc010uux.2_5'UTR	p.E36G	NM_003294	NP_003285	P20231	TRYB2_HUMAN			2	159	+		Hepatocellular(780;0.00369)	36			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.107A>G	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252145	0.59212	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.89810	-2.57;-2.57	3.9	3.9	0.45041	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48767	D	0.000170	D	0.93291	0.7862	M	0.79614	2.46	0.31413	N	0.675222	D	0.89917	1.0	D	0.91635	0.999	D	0.91978	0.5592	10	0.51188	T	0.08	.	11.0426	0.47840	1.0:0.0:0.0:0.0	.	36	Q15661	TRYB1_HUMAN	G	36;43	ENSP00000343577:E36G;ENSP00000418247:E43G	ENSP00000343577:E36G	E	+	2	0	TPSAB1	1231200	0.000000	0.05858	0.982000	0.44146	0.497000	0.33675	0.042000	0.13949	1.551000	0.49450	0.392000	0.25879	GAG		0.711	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		G	1291199	A	G	1291199	3	3	101	1	0	0	0	0	1	0	0	0	16420	304	11	4	113	4	TPSAB1	16	1291199	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08		1291199	89063554	57	6909											
MYH11	4629	broad.mit.edu	37	chr16	15813552	15813552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatcttccagctctctttGaaagtccttcatctgagcct	7	14	7	13	0	4	2	1	2	3	0	7	2	6	2	3	1	2	2	3	1	1	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:15813552G>C	ENST00000300036.5	-	35	5081	c.4972C>G	c.(4972-4974)Caa>Gaa	p.Q1658E	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.Q1665E|MYH11_ENST00000396324.3_Missense_Mutation_p.Q1665E|MYH11_ENST00000576790.2_Missense_Mutation_p.Q1658E|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1658					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCTCTCTTTGAAAGTCCTTC	0.517			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4993-4995)Caa>Gaa		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							126	117	120					16																	15813552		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15813552G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4972C>G	16.37:g.15813552G>C	ENSP00000300036:p.Gln1658Glu					MYH11_uc002ddv.3_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.3_Missense_Mutation_p.Q1658E|MYH11_uc002ddy.3_Missense_Mutation_p.Q1658E|MYH11_uc010bvg.3_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank	p.Q1665E	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			35	5100	-			1658					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4993C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725268	0.48833	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.07	5.07	0.68467	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.70903	2.155	0.80722	D	1	B;P;P;B;B	0.37015	0.01;0.578;0.578;0.01;0.004	B;B;B;B;B	0.43018	0.033;0.405;0.405;0.033;0.012	D	0.86020	0.1506	10	0.87932	D	0	.	17.4317	0.87541	0.0:0.0:1.0:0.0	.	1665;1658;1665;1658;1665	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	E	1658;1658;1665;1665;1665	ENSP00000300036:Q1658E;ENSP00000345136:Q1658E;ENSP00000379616:Q1665E;ENSP00000407821:Q1665E	ENSP00000300036:Q1658E	Q	-	1	0	MYH11	15721053	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.164000	0.64954	2.351000	0.79841	0.563000	0.77884	CAA		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		C	15813552	G	C	15813552	3	2	101	1	0	0	0	0	1	0	0	0	10031	1299	45	5	1009	5	MYH11	16	15813552	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	14522353	15813552	74541201	58	6910											
SMG1	23049	broad.mit.edu	37	chr16	18830977	18830977	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgcagctagcttctcCtataaaagccagcagaatct	13	10	7	11	0	3	1	1	0	2	1	4	1	3	1	2	0	5	4	2	0	6	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:18830977C>T	ENST00000446231.2	-	56	10154		c.e56-1		SMG1_ENST00000389467.3_Splice_Site			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase						DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGCTTCTCCTATAAAAGCC	0.413																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.e56-1		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.							31	29	30					16																	18830977		1862	4100	5962	SO:0001630	splice_region_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18830977C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9742-1G>A	16.37:g.18830977C>T						SMG1_uc010bwb.3_Splice_Site_p.E3108_splice|SMG1_uc010bwa.3_Splice_Site_p.E1979_splice	p.E3248_splice	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			56	10105	-			3248					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Splice_Site	SNP	ENST00000446231.2	37	c.9742_splice	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161208	0.94727	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMG1	18738478	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	.		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	Intron	T	18830977	C	T	18830977	5	4	101	1	0	0	0	0	0	0	1	0	14795	695	24	3	1276	3	SMG1	16	18830977	Splice_Site	SNP	C	TCGA-06-6391-01A-11D-1696-08	3017425	18830977	71523776	59	6911											
DNAH3	55567	broad.mit.edu	37	chr16	21123036	21123036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacagagatcatgatttagGgccgtagcatcaaggcagaa	14	8	11	8	1	3	3	3	1	0	2	3	4	3	3	1	2	1	3	1	2	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:21123036G>A	ENST00000261383.3	-	14	2009	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	DNAH3_ENST00000415178.1_Silent_p.A670A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	670	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGATTTAGGGCCGTAGCAT	0.418																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2008-2010)gcC>gcT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							160	135	143					16																	21123036		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21123036G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2010C>T	16.37:g.21123036G>A						DNAH3_uc002die.2_Silent_p.A610A	p.A670A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	13	2010	-			670			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.2010C>T	CCDS10594.1																																																																																				0.418	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21123036	G	A	21123036	2	1	101	1	0	0	0	0	0	0	0	1	4603	1219	43	3		3	DNAH3	16	21123036	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	2292059	21123036	69231717	60	6912											
PRKCB	5579	broad.mit.edu	37	chr16	24166173	24166173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccactcctgcttccagAccatggtaacttgtcccatg	8	11	7	15	0	0	1	0	0	0	1	4	1	4	1	5	1	3	3	5	1	1	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:24166173A>G	ENST00000321728.7	+	10	1409	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	PRKCB_ENST00000303531.7_Missense_Mutation_p.T412A	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGCTTCCAGACCATGGTAAC	0.582																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1234-1236)Acc>Gcc		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						82	63	69					16																	24166173		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166173A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1234A>G	16.37:g.24166173A>G	ENSP00000318315:p.Thr412Ala					PRKCB_uc002dme.3_Missense_Mutation_p.T412A	p.T412A	NM_212535	NP_997700	P05771	KPCB_HUMAN			9	1431	+			412			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1234A>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761474	0.89932	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.66460	-0.21;-0.21	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110795	0.64402	D	0.000011	T	0.75133	0.3808	M	0.73319	2.225	0.80722	D	1	P;P	0.40360	0.667;0.714	B;P	0.48400	0.44;0.576	T	0.77920	-0.2407	10	0.87932	D	0	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	412;412	P05771-2;P05771	.;KPCB_HUMAN	A	412	ENSP00000318315:T412A;ENSP00000305355:T412A	ENSP00000305355:T412A	T	+	1	0	PRKCB	24073674	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ACC		0.582	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		G	24166173	A	G	24166173	3	3	101	1	0	0	0	0	1	0	0	0	12508	275	10	4	1272	4	PRKCB	16	24166173	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	3043137	24166173	66188580	61	6913											
OR3A2	4995	broad.mit.edu	37	chr17	3181702	3181702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcattggggccacagaaGttgagcgtggacatggccac	10	7	13	11	1	1	2	1	1	0	1	1	3	1	3	3	4	1	1	3	4	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:3181702G>C	ENST00000408891.2	-	1	566	c.528C>G	c.(526-528)aaC>aaG	p.N176K	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	176					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GGCCACAGAAGTTGAGCGTGG	0.567																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.3																			0				ovary(1)	1						c.(526-528)aaC>aaG		Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.							99	89	92					17																	3181702		2203	4297	6500	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181702G>C	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.528C>G	17.37:g.3181702G>C	ENSP00000386180:p.Asn176Lys						p.N176K	NM_002551	NP_002542	P47893	OR3A2_HUMAN			0	567	-			176					Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.528C>G	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	G	0.650	-0.809805	0.02798	.	.	ENSG00000221882	ENST00000408891	T	0.36699	1.24	4.9	0.29	0.15728	GPCR, rhodopsin-like superfamily (1);	0.666605	0.13893	N	0.355477	T	0.17534	0.0421	N	0.11756	0.17	0.09310	N	0.999997	B	0.09022	0.002	B	0.15484	0.013	T	0.16928	-1.0386	10	0.59425	D	0.04	-2.6763	4.1414	0.10194	0.1534:0.1262:0.591:0.1294	.	176	P47893	OR3A2_HUMAN	K	176	ENSP00000386180:N176K	ENSP00000386180:N176K	N	-	3	2	OR3A2	3128452	0.162000	0.22906	0.559000	0.28332	0.078000	0.17371	0.155000	0.16362	0.340000	0.23745	-0.258000	0.10820	AAC		0.567	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			C	3181702	G	C	3181702	3	2	101	1	0	0	0	0	1	0	0	0	11038	1020	36	5	441	5	OR3A2	17	3181702	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		3181702	78013508	62	6914											
KRT40	125115	broad.mit.edu	37	chr17	39140113	39140113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaatggtgttgaagtaaCgctgataatccgggcacacc	11	10	10	10	2	1	2	1	2	0	0	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:39140113C>T	ENST00000398486.2	-	3	573	c.413G>A	c.(412-414)cGt>cAt	p.R138H	KRT40_ENST00000377755.4_Missense_Mutation_p.R138H	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	138	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R138P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGAAGTAACGCTGATAATC	0.483																																						uc010cxh.1																			1	Substitution - Missense(1)	p.R138P(2)	lung(1)	endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(412-414)cGt>cAt		Homo sapiens keratin 40 (KRT40), mRNA.							182	176	178					17																	39140113		2159	4271	6430	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39140113C>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.413G>A	17.37:g.39140113C>T	ENSP00000381500:p.Arg138His					KRT40_uc002hvq.1_Non-coding_Transcript	p.R138H	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			2	574	-		Breast(137;0.00043)	138			Coil 1B.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.413G>A	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905556	0.17760	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.88586	-2.4;-2.4	5.3	3.32	0.38043	Filament (1);	0.844176	0.09752	N	0.760421	T	0.80325	0.4602	N	0.03917	-0.325	0.09310	N	1	B	0.29162	0.235	B	0.42995	0.404	T	0.70956	-0.4731	10	0.27082	T	0.32	.	6.7152	0.23300	0.0:0.6501:0.1295:0.2204	.	138	Q6A162	K1C40_HUMAN	H	138	ENSP00000366984:R138H;ENSP00000381500:R138H	ENSP00000366984:R138H	R	-	2	0	KRT40	36393639	0.000000	0.05858	0.925000	0.36789	0.005000	0.04900	0.408000	0.21065	0.745000	0.32763	-0.952000	0.02654	CGT		0.483	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		T	39140113	C	T	39140113	3	4	101	1	0	0	0	0	1	0	0	0	8478	536	19	1	910	1	KRT40	17	39140113	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	35958411	39140113	42055097	63	6915											
SERPINB4	6318	broad.mit.edu	37	chr18	61309010	61309010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgtaaaaattgatacGtcttttctccgaagagcttg	11	15	7	8	2	2	2	0	1	2	1	3	3	2	2	2	0	3	2	2	0	6	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr18:61309010G>A	ENST00000341074.5	-	4	450	c.335C>T	c.(334-336)aCg>aTg	p.T112M	SERPINB4_ENST00000356424.6_Missense_Mutation_p.T112M	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	112					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T112M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAATTGATACGTCTTTTCTCC	0.423																																						uc002ljf.3																			1	Substitution - Missense(1)	p.T112T(2)|p.T112M(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(334-336)aCg>aTg		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							252	232	239					18																	61309010		2203	4300	6503	SO:0001583	missense	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61309010G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.335C>T	18.37:g.61309010G>A	ENSP00000343445:p.Thr112Met					SERPINB3_uc002lje.3_Missense_Mutation_p.T112M|SERPINB3_uc002ljg.3_Intron	p.T112M	NM_002974	NP_002965	P29508	SPB3_HUMAN			3	421	-			112					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.335C>T	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.24|10.24	1.295173|1.295173	0.23564|0.23564	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424	.|D;D	.|0.83506	.|-1.73;-1.73	3.76|3.76	-7.53|-7.53	0.01336|0.01336	.|Serpin domain (3);	.|1.690210	.|0.03639	.|N	.|0.239107	T|T	0.78648|0.78648	0.4316|0.4316	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39003	.|0.135;0.654	.|B;B	.|0.39617	.|0.07;0.305	T|T	0.71481|0.71481	-0.4580|-0.4580	5|10	.|0.62326	.|D	.|0.03	.|.	4.0327|4.0327	0.09716|0.09716	0.0743:0.2038:0.2462:0.4757|0.0743:0.2038:0.2462:0.4757	.|.	.|112;112	.|P48594;Q9BYF7	.|SPB4_HUMAN;.	C|M	114|112	.|ENSP00000343445:T112M;ENSP00000348795:T112M	.|ENSP00000343445:T112M	R|T	-|-	1|2	0|0	SERPINB4|SERPINB4	59459990|59459990	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.029000|-0.029000	0.12329|0.12329	-1.817000|-1.817000	0.01219|0.01219	-0.180000|-0.180000	0.13094|0.13094	CGT|ACG		0.423	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		A	61309010	G	A	61309010	3	1	101	1	0	0	0	0	1	0	0	0	14103	1145	40	1	857	1	SERPINB4	18	61309010	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		61309010	16768238	64	6916											
BEST2	54831	broad.mit.edu	37	chr19	12863444	12863444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagtggcgaacgcccGcttcggtggcttctcccagc	5	7	13	16	5	1	0	0	0	1	0	3	2	1	0	3	3	3	2	3	3	1	2	rs368197840		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:12863444G>A	ENST00000549706.1	+	2	362	c.38G>A	c.(37-39)cGc>cAc	p.R13H	BEST2_ENST00000042931.1_Missense_Mutation_p.R13H|BEST2_ENST00000553030.1_Missense_Mutation_p.R13H			Q8NFU1	BEST2_HUMAN	bestrophin 2	13					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGAACGCCCGCTTCGGTGGC	0.657																																						uc002mux.3																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(37-39)cGc>cAc		Homo sapiens bestrophin 2 (BEST2), mRNA.		G	HIS/ARG	0,4222		0,0,2111	53	56	55		38	3.2	1	19		55	1,8443		0,1,4221	no	missense	BEST2	NM_017682.2	29	0,1,6332	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	13/510	12863444	1,12665	2111	4222	6333	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12863444G>A	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.38G>A	19.37:g.12863444G>A	ENSP00000448310:p.Arg13His						p.R13H	NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN			0	38	+			13					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.38G>A	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135268	0.77662	0.0	1.18E-4	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98060	-4.69;-4.69;-4.69	3.21	3.21	0.36854	.	0.000000	0.53938	U	0.000051	D	0.96614	0.8895	M	0.69358	2.11	0.47037	D	0.999291	P	0.37083	0.581	B	0.39971	0.315	D	0.97237	0.9888	10	0.66056	D	0.02	-24.602	14.0094	0.64486	0.0:0.0:1.0:0.0	.	13	Q8NFU1	BEST2_HUMAN	H	13	ENSP00000448310:R13H;ENSP00000447203:R13H;ENSP00000042931:R13H	ENSP00000042931:R13H	R	+	2	0	BEST2	12724444	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	4.407000	0.59754	1.768000	0.52137	0.313000	0.20887	CGC		0.657	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		A	12863444	G	A	12863444	3	1	101	1	0	0	0	0	1	0	0	0	1405	1087	38	1	40	1	BEST2	19	12863444	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		12863444	46265539	65	6917											
SLC35E1	79939	broad.mit.edu	37	chr19	16664592	16664592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgtactgatagtccccGtgctgggggaagaggaggcc	7	6	17	11	3	0	2	0	1	0	1	1	4	1	4	4	5	2	2	4	5	3	2	rs139815009		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:16664592G>A	ENST00000595753.1	-	6	1148	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.11_ENST00000597357.1_RNA|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	377					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GATAGTCCCCGTGCTGGGGGA	0.582																																						uc010xph.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1129-1131)caC>caT		Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.		G		0,4406		0,0,2203	133	126	129		1131	-5.4	0	19	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC35E1	NM_024881.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		377/411	16664592	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16664592G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1131C>T	19.37:g.16664592G>A						MED26_uc002nee.2_Non-coding_Transcript	p.H377H	NM_024881	NP_079157	Q96K37	S35E1_HUMAN			5	1149	-			377					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.1131C>T	CCDS12346.2																																																																																				0.582	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		A	16664592	G	A	16664592	2	1	101	1	0	0	0	0	0	0	0	1	14584	1136	40	1		1	SLC35E1	19	16664592	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	3801148	16664592	42464391	66	6918											
FCGBP	8857	broad.mit.edu	37	chr19	40411954	40411954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtccgcagctggaggacTcacaggacaccaggccgccc	8	3	14	16	3	1	0	1	0	0	0	2	3	2	3	4	5	1	2	4	5	0	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:40411954T>C	ENST00000221347.6	-	7	3681	c.3674A>G	c.(3673-3675)gAg>gGg	p.E1225G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1225	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGAGGACTCACAGGACAC	0.677																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3673-3675)gAg>gGg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							48	48	48					19																	40411954		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411954T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3674A>G	19.37:g.40411954T>C	ENSP00000221347:p.Glu1225Gly						p.E1225G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	3682	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1225			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3674A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	7.503	0.653149	0.14580	.	.	ENSG00000090920	ENST00000221347	T	0.05382	3.45	4.39	2.11	0.27256	.	2.209180	0.03144	N	0.167016	T	0.16769	0.0403	M	0.63428	1.95	0.09310	N	1	P	0.41947	0.766	P	0.53988	0.739	T	0.19160	-1.0314	10	0.25106	T	0.35	.	6.1694	0.20408	0.1334:0.0:0.2537:0.6129	.	1225	Q9Y6R7	FCGBP_HUMAN	G	1225	ENSP00000221347:E1225G	ENSP00000221347:E1225G	E	-	2	0	FCGBP	45103794	0.000000	0.05858	0.028000	0.17463	0.019000	0.09904	0.175000	0.16762	0.704000	0.31869	0.358000	0.22013	GAG		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40411954	T	C	40411954	3	2	101	1	0	0	0	0	1	0	0	0	5778	1551	54	4	12663	4	FCGBP	19	40411954	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	23747362	40411954	18717029	67	6919											
CYP2B6	1555	broad.mit.edu	37	chr19	41515193	41515193	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtttacaaaaacctgCaggaaatcaatgcttacatt	16	10	7	8	0	1	0	1	0	0	0	1	1	1	1	1	2	5	4	1	2	7	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:41515193C>T	ENST00000324071.4	+	5	722	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	239					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CAAAAACCTGCAGGAAATCAA	0.522																																						uc002opr.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(715-717)Cag>Tag		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						103	102	102					19																	41515193		2202	4300	6502	SO:0001587	stop_gained	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515193C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.715C>T	19.37:g.41515193C>T	ENSP00000324648:p.Gln239*					CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.Q239*	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	722	+			239					B4DWP3|Q2V565|Q9UK46	Nonsense_Mutation	SNP	ENST00000324071.4	37	c.715C>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797783	0.50208	.	.	ENSG00000197408	ENST00000324071	.	.	.	4.51	-0.767	0.11016	.	0.646937	0.15434	N	0.262532	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	7.615	0.28152	0.4175:0.3097:0.2728:0.0	.	.	.	.	X	239	.	ENSP00000324648:Q239X	Q	+	1	0	CYP2B6	46207033	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.061000	0.14366	0.122000	0.18314	0.313000	0.20887	CAG		0.522	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41515193	C	T	41515193	4	4	101	1	0	0	0	0	0	1	0	0	4164	711	25	3	733	3	CYP2B6	19	41515193	Nonsense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	1103239	41515193	17613790	68	6920											
C20orf71	128861	broad.mit.edu	37	chr20	31811632	31811632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttattgctcagggccTcataaagcacaacgcagaaa	14	8	8	11	1	2	1	2	0	0	1	3	1	3	1	2	1	3	4	2	1	5	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:31811632T>C	ENST00000375454.3	+	2	353	c.143T>C	c.(142-144)cTc>cCc	p.L48P	BPIFA3_ENST00000375452.3_Missense_Mutation_p.L48P|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	48						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCTCAGGGCCTCATAAAGCAC	0.552																																						uc002wyr.3																			0											c.(142-144)cTc>cCc		Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.							107	89	95					20																	31811632		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31811632T>C		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.143T>C	20.37:g.31811632T>C	ENSP00000364603:p.Leu48Pro					BPIFA3_uc002wys.3_Missense_Mutation_p.L48P	p.L48P	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			1	351	+			48					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.143T>C	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979947	0.34942	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.52295	0.67;0.96	4.17	4.17	0.49024	.	0.000000	0.40554	N	0.001066	T	0.54631	0.1870	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.57516	-0.7798	10	0.87932	D	0	-16.4822	9.8995	0.41340	0.0:0.0:0.0:1.0	.	48;48	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	P	48	ENSP00000364603:L48P;ENSP00000364601:L48P	ENSP00000364601:L48P	L	+	2	0	BPIFA3	31275293	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.993000	0.49425	2.114000	0.64651	0.533000	0.62120	CTC		0.552	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		C	31811632	T	C	31811632	3	2	101	1	0	0	0	0	1	0	0	0	2117	1551	54	4	149	4	C20orf71	20	31811632	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08		31811632	31213888	69	6921											
CASS4	57091	broad.mit.edu	37	chr20	55021057	55021057	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggccccgtggtcctgaaGgtgagccttgttcaggggcc	4	8	17	12	2	1	2	1	2	0	0	2	2	2	2	5	6	1	1	5	6	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:55021057G>A	ENST00000360314.3	+	4	786	c.561G>A	c.(559-561)aaG>aaA	p.K187K	CASS4_ENST00000434344.1_Splice_Site_p.K187K|CASS4_ENST00000371336.3_Splice_Site_p.K187K	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	187					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGTCCTGAAGGTGAGCCTTG	0.622																																						uc002xxp.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.e4+1		Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.							48	45	46					20																	55021057		2203	4300	6503	SO:0001630	splice_region_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55021057G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.561+1G>A	20.37:g.55021057G>A						CASS4_uc002xxq.4_Splice_Site_p.K187_splice|CASS4_uc010zze.1_Splice_Site_p.K133_splice|CASS4_uc002xxr.2_Splice_Site_p.K187_splice|CASS4_uc010gio.2_Splice_Site_p.K187_splice	p.K187_splice	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN			4	786	+			187					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.561_splice	CCDS33492.1																																																																																				0.622	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	Silent	A	55021057	G	A	55021057	5	1	101	1	0	0	0	0	0	0	1	0	2683	1014	35	3	571	3	CASS4	20	55021057	Splice_Site	SNP	G	TCGA-06-6391-01A-11D-1696-08	23209425	55021057	8004463	70	6922											
CDKL5	6792	broad.mit.edu	37	chrX	18622176	18622176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgctggagctagtcttagtCcactgcacaccaaaacctac	11	10	7	13	0	1	0	0	0	1	0	2	1	2	1	3	1	5	3	3	1	5	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:18622176C>G	ENST00000379989.3	+	13	1417	c.1132C>G	c.(1132-1134)Cca>Gca	p.P378A	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P378A	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	378					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TAGTCTTAGTCCACTGCACAC	0.522																																						uc004cym.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1132-1134)Cca>Gca		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							160	153	155					X																	18622176		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622176C>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1132C>G	X.37:g.18622176C>G	ENSP00000369325:p.Pro378Ala					CDKL5_uc004cyn.3_Missense_Mutation_p.P378A|CDKL5_uc022btn.1_Missense_Mutation_p.P369A	p.P378A	NM_003159	NP_003150	O76039	CDKL5_HUMAN			11	1385	+	Hepatocellular(33;0.183)		378					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1132C>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179496	0.57800	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71341	-0.56;-0.56	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	L	0.36672	1.1	0.46849	D	0.999229	D	0.76494	0.999	D	0.80764	0.994	T	0.80828	-0.1208	10	0.72032	D	0.01	-17.0817	19.5011	0.95095	0.0:1.0:0.0:0.0	.	378	O76039	CDKL5_HUMAN	A	378	ENSP00000369332:P378A;ENSP00000369325:P378A	ENSP00000369325:P378A	P	+	1	0	CDKL5	18532097	1.000000	0.71417	0.990000	0.47175	0.414000	0.31173	7.484000	0.81180	2.560000	0.86352	0.600000	0.82982	CCA		0.522	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		G	18622176	C	G	18622176	3	3	101	1	0	0	0	0	1	0	0	0	3157	855	30	5	1174	5	CDKL5	23	18622176	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		18622176	136648384	71	6923											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998447	27998447	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atagagattgtatacagtccGactttcttatcattttctct	10	18	5	8	1	3	1	1	0	2	1	5	3	4	1	1	0	1	1	1	0	4	8			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:27998447G>C	ENST00000441525.1	-	1	1119	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	335								p.V335V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TATACAGTCCGACTTTCTTAT	0.418																																						uc004dbx.1																			1	Substitution - coding silent(1)	p.V335V(2)	lung(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1003-1005)gtC>gtG		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							99	84	89					X																	27998447		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998447G>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1005C>G	X.37:g.27998447G>C							p.V335V	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	1120	-			335					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1005C>G	CCDS35222.1																																																																																				0.418	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		C	27998447	G	C	27998447	2	2	101	1	0	0	0	0	0	0	0	1	4277	1045	37	5		5	DCAF8L1	23	27998447	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	9376271	27998447	127272113	72	6924											
CXorf22	170063	broad.mit.edu	37	chrX	35966473	35966473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggccaattacccatcctcaTttttccaactagtggtatcg	9	13	6	13	2	1	0	1	0	0	0	4	0	3	0	4	2	2	1	4	2	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:35966473T>A	ENST00000297866.5	+	4	626	c.560T>A	c.(559-561)aTt>aAt	p.I187N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	187										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCCATCCTCATTTTTCCAACT	0.403																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(559-561)aTt>aAt		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							205	162	177					X																	35966473		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35966473T>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.560T>A	X.37:g.35966473T>A	ENSP00000297866:p.Ile187Asn					CXorf22_uc010ngv.3_Non-coding_Transcript	p.I187N	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			3	626	+			187					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.560T>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784868	0.49997	.	.	ENSG00000165164	ENST00000297866	T	0.51817	0.69	4.8	3.62	0.41486	.	0.224065	0.44285	D	0.000478	T	0.62085	0.2399	M	0.72894	2.215	0.09310	N	1	D	0.69078	0.997	D	0.64776	0.929	T	0.55211	-0.8176	10	0.87932	D	0	.	9.1902	0.37195	0.0:0.0879:0.0:0.9121	.	187	Q6ZTR5	CX022_HUMAN	N	187	ENSP00000297866:I187N	ENSP00000297866:I187N	I	+	2	0	CXorf22	35876394	0.658000	0.27402	0.001000	0.08648	0.135000	0.20990	3.537000	0.53590	0.605000	0.29947	0.433000	0.28618	ATT		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35966473	T	A	35966473	3	1	101	1	0	0	0	0	1	0	0	0	4102	1493	52	5	574	5	CXorf22	23	35966473	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	7968026	35966473	119304087	73	6925											
OTC	5009	broad.mit.edu	37	chrX	38260563	38260563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcagatgcagtattggctcGagtgtataaacaatcagatt	13	11	11	6	1	1	2	1	0	0	2	2	3	1	2	0	2	2	5	0	2	5	5	rs68026851		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:38260563G>C	ENST00000039007.4	+	5	574	c.422G>C	c.(421-423)cGa>cCa	p.R141P	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	141			R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation). {ECO:0000269|PubMed:3170748, ECO:0000269|PubMed:8830175}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTATTGGCTCGAGTGTATAAA	0.378																																						uc004def.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	GRCh37	CM880056|CM971101	OTC	M	rs68026851	c.(421-423)cGa>cCa		Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	L-Citrulline(DB00155)|L-Ornithine(DB00129)						88	69	75					X																	38260563		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38260563G>C	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.422G>C	X.37:g.38260563G>C	ENSP00000039007:p.Arg141Pro						p.R141P	NM_000531	NP_000522	P00480	OTC_HUMAN			4	636	+			141		R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.422G>C	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329946	0.81690	.	.	ENSG00000036473	ENST00000039007	D	0.99961	-9.33	5.97	5.11	0.69529	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97338	0.9955	10	0.87932	D	0	-3.6673	14.2282	0.65873	0.0729:0.0:0.9271:0.0	.	141	P00480	OTC_HUMAN	P	141	ENSP00000039007:R141P	ENSP00000039007:R141P	R	+	2	0	OTC	38145507	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.417000	0.97391	1.278000	0.44430	0.600000	0.82982	CGA		0.378	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			C	38260563	G	C	38260563	3	2	101	1	0	0	0	0	1	0	0	0	11301	1058	37	5	440	5	OTC	23	38260563	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	2294090	38260563	117009997	74	6926											
MAOB	4129	broad.mit.edu	37	chrX	43626865	43626865	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgggctgtgcagggacatCctaggttcagaaaacattgg	11	9	14	7	0	1	1	1	0	0	1	2	3	2	2	1	4	2	3	1	4	3	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:43626865C>G	ENST00000378069.4	-	15	1558	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	MAOB_ENST00000538942.1_3'UTR|MAOB_ENST00000536181.1_Splice_Site_p.D455H	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	471					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GCAGGGACATCCTAGGTTCAG	0.493																																						uc004dfz.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.e15-1		Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						90	74	80					X																	43626865		2203	4300	6503	SO:0001630	splice_region_variant	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43626865C>G		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.1411-1G>C	X.37:g.43626865C>G						MAOB_uc011mkx.2_Splice_Site|MAOB_uc011mky.2_Splice_Site_p.D455_splice	p.D471_splice	NM_000898	NP_000889	P27338	AOFB_HUMAN			15	1587	-			471					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.1411_splice	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037867	0.54896	.	.	ENSG00000069535	ENST00000378069;ENST00000536181	T;T	0.19938	2.11;2.12	5.67	5.67	0.87782	.	0.095719	0.64402	D	0.000001	T	0.48960	0.1529	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	P	0.61592	0.891	T	0.51616	-0.8683	10	0.42905	T	0.14	-20.5759	17.4187	0.87508	0.0:1.0:0.0:0.0	.	471	P27338	AOFB_HUMAN	H	471;455	ENSP00000367309:D471H;ENSP00000441613:D455H	ENSP00000367309:D471H	D	-	1	0	MAOB	43511809	1.000000	0.71417	0.965000	0.40720	0.050000	0.14768	6.803000	0.75180	2.383000	0.81215	0.600000	0.82982	GAT		0.493	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	Missense_Mutation	G	43626865	C	G	43626865	5	3	101	1	0	0	0	0	0	0	1	0	9226	869	30	5	155	5	MAOB	23	43626865	Splice_Site	SNP	C	TCGA-06-6391-01A-11D-1696-08	5366302	43626865	111643695	75	6927											
ATRX	546	broad.mit.edu	37	chrX	76938530	76938530	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactcatcctgctcacctCtttgaggattgctagcattt	7	15	8	11	0	3	2	2	2	1	0	4	3	4	3	2	1	3	3	2	1	1	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:76938530C>A	ENST00000373344.5	-	9	2432	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E702*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	740			E -> G (in dbSNP:rs1051680). {ECO:0000269|PubMed:9244431}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGCTCACCTCTTTGAGGATT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2218-2220)Gag>Tag		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						140	137	138					X																	76938530		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938530C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2218G>T	X.37:g.76938530C>A	ENSP00000362441:p.Glu740*					ATRX_uc004ecq.4_Nonsense_Mutation_p.E702*|ATRX_uc004eco.4_Nonsense_Mutation_p.E525*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E672*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E711*|ATRX_uc010nly.1_Nonsense_Mutation_p.E685*	p.E740*	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	2450	-			740		E -> G (in dbSNP:rs1051680).			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2218G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.657912	0.98415	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.95	5.07	0.68467	.	0.061571	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.067	9.6051	0.39628	0.0:0.7859:0.1391:0.0751	.	.	.	.	X	740;702;667	.	ENSP00000362441:E740X	E	-	1	0	ATRX	76825186	1.000000	0.71417	0.977000	0.42913	0.711000	0.40976	1.189000	0.32114	1.226000	0.43582	0.513000	0.50165	GAG		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76938530	C	A	76938530	4	1	101	1	0	0	0	0	0	1	0	0	1208	922	32	5	5368	5	ATRX	23	76938530	Nonsense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	33311665	76938530	78332030	76	6928											
RPL36A	6173	broad.mit.edu	37	chrX	100646547	100646547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcaaggattctctgtacgCccagggtaagatggattccg	9	9	14	9	2	1	1	0	0	1	1	3	3	2	3	2	4	1	3	2	4	3	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:100646547C>T	ENST00000553110.3	+	2	188	c.104C>T	c.(103-105)gCc>gTc	p.A35V	RPL36A_ENST00000471855.1_5'UTR|RPL36A_ENST00000427805.2_Missense_Mutation_p.A71V|RPL36A-HNRNPH2_ENST00000409170.3_Missense_Mutation_p.P46S			P83881	RL36A_HUMAN	ribosomal protein L36a	35					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						TCTCTGTACGCCCAGGGTAAG	0.483																																						uc022cag.1																			0											c.(211-213)gCc>gTc		Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.							132	130	131					X																	100646547		2203	4300	6503	SO:0001583	missense	6173							g.chrX:100646547C>T	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.104C>T	X.37:g.100646547C>T	ENSP00000446503:p.Ala35Val					RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.A71V|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.A71V|RPL36A-HNRNPH2_uc004ehk.3_Missense_Mutation_p.A35V	p.A71V	NM_001199973	NP_001186902					1	258	+								P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	ENST00000553110.3	37	c.212C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.61|19.61	3.859950|3.859950	0.71834|0.71834	.|.	.|.	ENSG00000241343;ENSG00000241343;ENSG00000257529|ENSG00000257529	ENST00000427805;ENST00000553110;ENST00000409338|ENST00000409170	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Ribosomal protein, zinc-binding domain (1);|.	0.000000|.	0.64402|.	U|.	0.000013|.	T|T	0.75939|0.75939	0.3918|0.3918	M|M	0.72576|0.72576	2.205|2.205	0.50813|0.50813	D|D	0.999892|0.999892	B;B|.	0.24963|.	0.038;0.115|.	B;B|.	0.20767|.	0.014;0.031|.	T|T	0.75255|0.75255	-0.3382|-0.3382	10|5	0.66056|.	D|.	0.02|.	-25.4076|-25.4076	18.6337|18.6337	0.91370|0.91370	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	35;35|.	P83881;B2REA7|.	RL36A_HUMAN;.|.	V|S	71;35;46|46	ENSP00000404375:A71V;ENSP00000446503:A35V;ENSP00000386974:A46V|.	ENSP00000386974:A46V|.	A|P	+|+	2|1	0|0	RPL36A;RP1-164F3.9|RP1-164F3.9	100533203|100533203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.373000|0.373000	0.29922|0.29922	5.738000|5.738000	0.68613|0.68613	2.344000|2.344000	0.79699|0.79699	0.468000|0.468000	0.43344|0.43344	GCC|CCC		0.483	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029		T	100646547	C	T	100646547	3	4	101	1	0	0	0	0	1	0	0	0	13587	739	26	3	110	3	RPL36A	23	100646547	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	23708017	100646547	54624013	77	6929											
AGRN	375790	broad.mit.edu	37	chr1	985841	985841	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcgtgttcctggcaCgaggccccagcggcctcctg	4	8	15	14	3	0	0	0	0	0	0	3	2	2	1	5	5	1	2	5	5	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:985841C>T	ENST00000379370.2	+	29	5061	c.5011C>T	c.(5011-5013)Cga>Tga	p.R1671*		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1671	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> Q. {ECO:0000269|PubMed:19631309}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTCCTGGCACGAGGCCCCAG	0.677																																						uc001ack.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5011-5013)Cga>Tga		Homo sapiens agrin (AGRN), mRNA.							27	31	30					1																	985841		2202	4298	6500	SO:0001587	stop_gained	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985841C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5011C>T	1.37:g.985841C>T	ENSP00000368678:p.Arg1671*						p.R1671*	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	28	5061	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1671			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Nonsense_Mutation	SNP	ENST00000379370.2	37	c.5011C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	42	9.616711	0.99220	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	.	.	.	4.68	3.7	0.42460	.	0.340491	0.22887	U	0.054439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-21.5764	12.4474	0.55659	0.3191:0.6809:0.0:0.0	.	.	.	.	X	1671;10	.	ENSP00000368671:R10X	R	+	1	2	AGRN	975704	0.667000	0.27484	0.544000	0.28141	0.004000	0.04260	2.203000	0.42752	2.166000	0.68216	0.479000	0.44913	CGA		0.677	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	985841	C	T	985841	4	4	102	1	0	0	0	0	0	1	0	0	397	528	19	1	5125	1	AGRN	1	985841	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		985841	248264780	1	6930											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917716	156917716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaaggagggtatctGtgcagaaccccaaactgggg	10	6	18	7	0	1	1	0	0	1	1	1	3	1	3	2	7	3	2	2	7	4	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:156917716G>A	ENST00000361409.2	-	24	2808	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.T105I|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.T729I	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	689					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGTATCTGTGCAGAACCC	0.562																																						uc001fqo.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2065-2067)aCa>aTa		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.							39	40	39					1																	156917716		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917716G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2066C>T	1.37:g.156917716G>A	ENSP00000354644:p.Thr689Ile					ARHGEF11_uc010phu.2_Missense_Mutation_p.T105I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.T729I	p.T689I	NM_014784	NP_055599	O15085	ARHGB_HUMAN			23	3106	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		689					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2066C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244542	0.59103	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67345	-0.26;-0.25;-0.17	5.07	5.07	0.68467	.	0.316684	0.27482	N	0.019174	T	0.33000	0.0848	N	0.08118	0	0.36339	D	0.859353	P;P;P	0.44478	0.71;0.836;0.579	B;B;B	0.38755	0.281;0.277;0.281	T	0.47195	-0.9136	10	0.51188	T	0.08	-3.4597	13.9189	0.63919	0.0:0.1523:0.8477:0.0	.	105;689;729	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	I	729;689;105	ENSP00000357177:T729I;ENSP00000354644:T689I;ENSP00000313470:T105I	ENSP00000313470:T105I	T	-	2	0	ARHGEF11	155184340	0.934000	0.31675	0.940000	0.37924	0.843000	0.47879	2.660000	0.46749	2.653000	0.90120	0.561000	0.74099	ACA		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156917716	G	A	156917716	3	1	102	1	0	0	0	0	1	0	0	0	896	1377	48	3	2570	3	ARHGEF11	1	156917716	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	155931875	156917716	92332905	2	6931											
OBSCN	84033	broad.mit.edu	37	chr1	228494214	228494214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcaggccaatgggcGccgggagccacggcttcagg	7	4	17	13	3	1	0	1	0	0	0	1	1	1	1	3	5	3	4	3	5	1	1	rs371734358		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:228494214G>A	ENST00000422127.1	+	44	11845	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3934H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1568H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R4891H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1053H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3934	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAATGGGCGCCGGGAGCCA	0.652																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11800-11802)cGc>cAc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							26	30	29					1																	228494214		1937	4140	6077	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494214G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11801G>A	1.37:g.228494214G>A	ENSP00000409493:p.Arg3934His					OBSCN_uc001hsn.3_Missense_Mutation_p.R3934H	p.R3934H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			43	11845	+		Prostate(94;0.0405)	3934			Ig-like 40.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11801G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833166	0.50951	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327598	0.25497	N	0.030269	T	0.76948	0.4059	M	0.75615	2.305	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.67900	0.954;0.852	T	0.69855	-0.5032	10	0.52906	T	0.07	.	6.8927	0.24238	0.2158:0.0:0.7842:0.0	.	3934;3934	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	3934;3934;1568;1053	ENSP00000284548:R3934H;ENSP00000409493:R3934H;ENSP00000355668:R1568H;ENSP00000355670:R1053H	ENSP00000284548:R3934H	R	+	2	0	OBSCN	226560837	0.004000	0.15560	0.452000	0.26994	0.019000	0.09904	1.386000	0.34419	2.488000	0.83962	0.462000	0.41574	CGC		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228494214	G	A	228494214	3	1	102	1	0	0	0	0	1	0	0	0	10812	1087	38	1	11971	1	OBSCN	1	228494214	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	71576498	228494214	20756407	3	6932											
SH3RF3	344558	broad.mit.edu	37	chr2	110015136	110015136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgccctctgactccGgcgctgtggccagcgtggcc	2	8	12	19	3	1	1	0	1	1	0	3	1	3	1	6	3	2	1	6	3	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:110015136G>A	ENST00000309415.6	+	4	1036	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	346							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTCTGACTCCGGCGCTGTGGC	0.602																																						uc010ywt.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1036-1038)Ggc>Agc		Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.							38	40	40					2																	110015136		2203	4300	6503	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015136G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1036G>A	2.37:g.110015136G>A	ENSP00000309186:p.Gly346Ser						p.G346S	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			3	1036	+			346					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1036G>A		.	.	.	.	.	.	.	.	.	.	G	5.165	0.215990	0.09810	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.02916	4.11;4.11	4.4	-0.609	0.11608	.	0.741625	0.12361	N	0.475621	T	0.01124	0.0037	.	.	.	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.47275	-0.9130	9	0.02654	T	1	-9.6524	5.7208	0.17986	0.4943:0.1395:0.3662:0.0	.	346	Q8TEJ3	SH3R3_HUMAN	S	346	ENSP00000414997:G346S;ENSP00000309186:G346S	ENSP00000309186:G346S	G	+	1	0	SH3RF3	109381568	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.417000	0.21214	-0.084000	0.12595	0.561000	0.74099	GGC		0.602	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		A	110015136	G	A	110015136	3	1	102	1	0	0	0	0	1	0	0	0	14260	1116	39	2	1050	2	SH3RF3	2	110015136	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		110015136	133184237	4	6933											
TMEM163	81615	broad.mit.edu	37	chr2	135470799	135470799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcgagggccagggtgAcaatgatggagaaccaggac	12	3	15	11	2	0	3	0	2	0	1	0	6	0	4	4	4	1	0	4	4	2	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:135470799A>G	ENST00000281924.6	-	2	357	c.293T>C	c.(292-294)gTc>gCc	p.V98A		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	98						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GGCCAGGGTGACAATGATGGA	0.517																																						uc002ttx.3																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(292-294)gTc>gCc		Homo sapiens transmembrane protein 163 (TMEM163), mRNA.							210	172	185					2																	135470799		2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135470799A>G		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.293T>C	2.37:g.135470799A>G	ENSP00000281924:p.Val98Ala					TMEM163_uc002tty.3_Non-coding_Transcript	p.V98A	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	1	359	-			98					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.293T>C	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256163	0.59321	.	.	ENSG00000152128	ENST00000281924;ENST00000537539	T	0.63096	-0.02	5.11	5.11	0.69529	.	0.127711	0.52532	D	0.000075	T	0.65502	0.2697	L	0.55481	1.735	0.47584	D	0.999466	P	0.50443	0.935	P	0.50708	0.648	T	0.62661	-0.6807	10	0.24483	T	0.36	.	15.0483	0.71844	1.0:0.0:0.0:0.0	.	98	Q8TC26	TM163_HUMAN	A	98;37	ENSP00000281924:V98A	ENSP00000281924:V98A	V	-	2	0	TMEM163	135187269	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.949000	0.93012	2.145000	0.66743	0.482000	0.46254	GTC		0.517	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		G	135470799	A	G	135470799	3	3	102	1	0	0	0	0	1	0	0	0	16075	275	10	4	604	4	TMEM163	2	135470799	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	25455663	135470799	107728574	5	6934											
PROS1	5627	broad.mit.edu	37	chr3	93646100	93646100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaatgcttaccgtttcCgggtcattttcaaagacctc	10	13	6	12	2	2	1	2	0	0	1	4	1	3	1	4	1	2	2	4	1	4	5	rs6121		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:93646100C>T	ENST00000394236.3	-	2	544	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	76	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.		P -> L (in dbSNP:rs73846070). {ECO:0000269|PubMed:10613647, ECO:0000269|PubMed:15712227, ECO:0000269|PubMed:7803790}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTACCGTTTCCGGGTCATTTT	0.388																																						uc003drb.4																			0		p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(226-228)ccG>ccA		Homo sapiens protein S (alpha) (PROS1), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						102	100	101					3																	93646100		2203	4300	6503	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646100C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.228G>A	3.37:g.93646100C>T						PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	p.P76P	NM_000313	NP_000304	P07225	PROS_HUMAN			1	569	-			76		P -> L.	Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.228G>A	CCDS2923.1																																																																																				0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		T	93646100	C	T	93646100	2	4	102	1	0	0	0	0	0	0	0	1	12558	639	23	2		2	PROS1	3	93646100	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		93646100	104376330	6	6935											
TNIK	23043	broad.mit.edu	37	chr3	170819385	170819385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtttgtttcttcaatcCggagttctcttagttctttg	4	19	10	8	2	4	0	1	0	3	0	6	1	5	1	1	3	0	4	1	3	2	7	rs201193783	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:170819385C>T	ENST00000436636.2	-	22	2788	c.2444G>A	c.(2443-2445)cGg>cAg	p.R815Q	TNIK_ENST00000460047.1_Missense_Mutation_p.R752Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R760Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R793Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R723Q|TNIK_ENST00000341852.6_Missense_Mutation_p.R731Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R807Q|TNIK_ENST00000470834.1_Missense_Mutation_p.R778Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R786Q|TNIK_ENST00000538048.1_Missense_Mutation_p.R767Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	815	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTTCAATCCGGAGTTCTCT	0.453													C|||	2	0.000399361	0	0	5008	,	,		18793	0		0.001	False		,,,				2504	0.001					uc003fhh.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2443-2445)cGg>cAg		Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3956		0,0,1978	243	217	226		2420,2357,2333,2279,2255,2192,2168,2444	6	1	3		226	2,8350		0,2,4174	yes	missense,missense,missense,missense,missense,missense,missense,missense	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	43,43,43,43,43,43,43,43	0,2,6152	TT,TC,CC		0.0239,0.0,0.0162	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	807/1353,786/1332,778/1324,760/1306,752/1298,731/1277,723/1269,815/1361	170819385	2,12306	1978	4176	6154	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819385C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2444G>A	3.37:g.170819385C>T	ENSP00000399511:p.Arg815Gln					TNIK_uc003fhi.2_Missense_Mutation_p.R760Q|TNIK_uc003fhj.2_Missense_Mutation_p.R786Q|TNIK_uc003fhk.2_Missense_Mutation_p.R807Q|TNIK_uc003fhl.2_Missense_Mutation_p.R731Q|TNIK_uc003fhm.2_Missense_Mutation_p.R752Q|TNIK_uc003fhn.2_Missense_Mutation_p.R778Q|TNIK_uc003fho.2_Missense_Mutation_p.R723Q|TNIK_uc003fhg.2_5'UTR	p.R815Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		21	2789	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		815			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2444G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678308	0.88542	0.0	2.39E-4	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.89192	0.6645	M	0.64997	1.995	0.80722	D	1	D;P;D;D;D;D;D;D	0.69078	0.997;0.926;0.997;0.997;0.986;0.966;0.997;0.99	D;P;D;D;P;P;D;P	0.69479	0.964;0.726;0.964;0.964;0.848;0.8;0.964;0.837	D	0.83771	0.0220	10	0.12766	T	0.61	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	723;778;752;731;807;786;760;815	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	815;793;767;731;807;723;786;752;760;778	ENSP00000399511:R815Q;ENSP00000358332:R793Q;ENSP00000443278:R767Q;ENSP00000345352:R731Q;ENSP00000284483:R807Q;ENSP00000418156:R723Q;ENSP00000349880:R786Q;ENSP00000418916:R752Q;ENSP00000418378:R760Q;ENSP00000419990:R778Q	ENSP00000284483:R807Q	R	-	2	0	TNIK	172302079	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.291000	0.78721	2.857000	0.98124	0.650000	0.86243	CGG		0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		T	170819385	C	T	170819385	3	4	102	1	0	0	0	0	1	0	0	0	16310	652	23	2	1686	2	TNIK	3	170819385	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	77173285	170819385	27203045	7	6936											
ARAP2	116984	broad.mit.edu	37	chr4	36085016	36085016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggcttcattttctttttCactccacgataaaacttcat	10	16	5	10	1	4	0	3	0	1	0	5	2	5	1	1	2	1	1	1	2	2	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:36085016C>T	ENST00000303965.4	-	29	4971	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1494	PH 5. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTTTTTCACTCCACGAT	0.313																																						uc003gsq.2																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4480-4482)gtG>gtA		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.							79	74	76					4																	36085016		2201	4298	6499	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36085016C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4482G>A	4.37:g.36085016C>T							p.V1494V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			28	4820	-			1494			PH 5.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.4482G>A	CCDS3441.1																																																																																				0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		T	36085016	C	T	36085016	2	4	102	1	0	0	0	0	0	0	0	1	839	813	29	3		3	ARAP2	4	36085016	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		36085016	155069260	8	6937											
FRAS1	80144	broad.mit.edu	37	chr4	79204019	79204019	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaaggtgtgtgagtgcCgaggggctcaggtaacttgc	7	10	16	8	1	1	1	1	1	0	0	1	2	1	1	1	4	4	3	1	4	2	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:79204019C>T	ENST00000325942.6	+	12	1593	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	FRAS1_ENST00000264899.6_Nonsense_Mutation_p.R385*|FRAS1_ENST00000264895.6_Nonsense_Mutation_p.R385*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	385	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTGAGTGCCGAGGGGCTCA	0.537																																						uc003hlb.2																			0		p.R385R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1153-1155)Cga>Tga		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							107	111	110					4																	79204019		2026	4180	6206	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79204019C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1153C>T	4.37:g.79204019C>T	ENSP00000326330:p.Arg385*					FRAS1_uc003hkw.3_Nonsense_Mutation_p.R385*|FRAS1_uc003hky.1_Nonsense_Mutation_p.R89*|FRAS1_uc003hkz.3_Nonsense_Mutation_p.R89*	p.R385*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			11	1593	+			385			VWFC 6.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	c.1153C>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.848429|4.848429	0.91277|0.91277	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	.|.	.|.	.|.	5.6|5.6	4.76|4.76	0.60689|0.60689	.|.	.|0.421580	.|0.24345	.|N	.|0.039336	T|.	0.36166|.	0.0957|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34428|.	-0.9829|.	3|.	.|0.02654	.|T	.|1	.|.	14.6448|14.6448	0.68754|0.68754	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.	.|.	.|.	.|.	L|X	227|385;385;385;125	.|.	.|ENSP00000264895:R385X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79423043|79423043	0.616000|0.616000	0.27035|0.27035	0.899000|0.899000	0.35326|0.35326	0.468000|0.468000	0.32798|0.32798	0.999000|0.999000	0.29757|0.29757	1.362000|1.362000	0.46000|0.46000	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.537	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79204019	C	T	79204019	4	4	102	1	0	0	0	0	0	1	0	0	6042	644	23	2	1199	2	FRAS1	4	79204019	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	43119003	79204019	111950257	9	6938											
HPGD	3248	broad.mit.edu	37	chr4	175439163	175439163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtttttctcattatTcactccagcattattgacca	9	17	3	12	0	2	1	2	1	1	0	5	1	4	1	3	0	1	2	3	0	2	7	rs376310920		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:175439163T>A	ENST00000296522.6	-	3	729	c.283A>T	c.(283-285)Aat>Tat	p.N95Y	HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000542498.1_Missense_Mutation_p.N95Y|HPGD_ENST00000504433.1_Missense_Mutation_p.N95Y|HPGD_ENST00000541923.1_Intron|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000296521.7_Missense_Mutation_p.N95Y	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	95					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		TTCTCATTATTCACTCCAGCA	0.279																																						uc003itu.2																			0				kidney(1)|lung(3)|prostate(3)	7						c.(283-285)Aat>Tat		Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	NADH(DB00157)						67	66	66					4																	175439163		2201	4293	6494	SO:0001583	missense	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175439163T>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.283A>T	4.37:g.175439163T>A	ENSP00000296522:p.Asn95Tyr					HPGD_uc003itv.2_Missense_Mutation_p.N95Y|HPGD_uc011ckf.1_Intron|HPGD_uc010irq.2_Missense_Mutation_p.N95Y|HPGD_uc011ckg.1_Intron|HPGD_uc011ckh.1_5'UTR	p.N95Y	NM_000860	NP_000851	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	2	473	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	95					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	ENST00000296522.6	37	c.283A>T	CCDS3821.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177479	0.78564	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000542498;ENST00000504433	D;D;D;D	0.87412	-1.93;-1.93;-2.25;-2.25	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.083802	0.85682	D	0.000000	D	0.84316	0.5445	N	0.03050	-0.425	0.58432	D	0.999999	D;D;P;D;D	0.89917	1.0;0.975;0.955;0.988;0.991	D;D;P;P;D	0.91635	0.999;0.927;0.883;0.851;0.918	D	0.85921	0.1446	10	0.28530	T	0.3	.	15.4404	0.75178	0.0:0.0:0.0:1.0	.	95;95;95;95;95	O00749;E9PBZ2;Q12998;B4DV57;P15428	.;.;.;.;PGDH_HUMAN	Y	95	ENSP00000296522:N95Y;ENSP00000296521:N95Y;ENSP00000443644:N95Y;ENSP00000420892:N95Y	ENSP00000296521:N95Y	N	-	1	0	HPGD	175675738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.289000	0.65656	2.288000	0.76882	0.482000	0.46254	AAT		0.279	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			A	175439163	T	A	175439163	3	1	102	1	0	0	0	0	1	0	0	0	7334	1783	62	5	537	5	HPGD	4	175439163	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	96235144	175439163	15715113	10	6939											
PLCXD3	345557	broad.mit.edu	37	chr5	41382349	41382349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatggtgatctgtgaggaAtgcattgatctcctcaaggc	9	13	11	8	0	3	3	1	3	2	0	4	4	3	4	1	3	1	1	1	3	3	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr5:41382349A>G	ENST00000377801.3	-	2	465	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F131L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	131	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGAGGAATGCATTGATC	0.433																																						uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(391-393)Ttc>Ctc		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							122	120	120					5																	41382349		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382349A>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.391T>C	5.37:g.41382349A>G	ENSP00000367032:p.Phe131Leu						p.F131L	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	493	-			131			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.391T>C	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725940	0.69074	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.63744	-0.06;-0.06	5.81	5.81	0.92471	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.044872	0.85682	D	0.000000	T	0.72622	0.3483	M	0.90369	3.11	0.80722	D	1	B	0.19583	0.037	B	0.28011	0.085	T	0.73662	-0.3912	10	0.87932	D	0	-13.6959	16.1667	0.81768	1.0:0.0:0.0:0.0	.	131	Q63HM9	PLCX3_HUMAN	L	131	ENSP00000367032:F131L;ENSP00000333751:F131L	ENSP00000333751:F131L	F	-	1	0	PLCXD3	41418106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.210000	0.71456	0.533000	0.62120	TTC		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		G	41382349	A	G	41382349	3	3	102	1	0	0	0	0	1	0	0	0	12043	101	4	4	582	4	PLCXD3	5	41382349	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08		41382349	139532911	11	6940											
RSPO3	84870	broad.mit.edu	37	chr6	127469958	127469958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtggatattatggaactcGatatccagatataaataagt	17	12	8	4	1	0	1	0	0	0	1	2	4	1	3	1	2	1	0	1	2	9	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:127469958G>A	ENST00000356698.4	+	2	852	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.R88Q	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	88					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363																																						uc003qas.1																		PTPRK/RSPO3(10)	0		p.R88*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(262-264)cGa>cAa		Homo sapiens R-spondin 3 (RSPO3), mRNA.							125	119	121					6																	127469958		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127469958G>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.263G>A	6.37:g.127469958G>A	ENSP00000349131:p.Arg88Gln					RSPO3_uc003qar.3_Missense_Mutation_p.R88Q	p.R88Q	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	1	553	+			88					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.263G>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297867	0.95574	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.91351	-2.83;-2.83	5.73	5.73	0.89815	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	L	0.39020	1.185	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.90969	0.4818	10	0.40728	T	0.16	-15.5343	19.9155	0.97058	0.0:0.0:1.0:0.0	.	88;88	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	Q	88	ENSP00000349131:R88Q;ENSP00000357300:R88Q	ENSP00000349131:R88Q	R	+	2	0	RSPO3	127511651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.699000	0.92147	0.650000	0.86243	CGA		0.363	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		A	127469958	G	A	127469958	3	1	102	1	0	0	0	0	1	0	0	0	13711	1058	37	2	269	2	RSPO3	6	127469958	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		127469958	43645109	12	6941											
ZBTB2	57621	broad.mit.edu	37	chr6	151687542	151687542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaagatgcttccagattgGtctcctccccgggaggaggg	8	8	15	10	1	1	2	0	0	1	2	4	5	3	5	4	5	1	1	4	5	1	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:151687542G>T	ENST00000325144.4	-	3	799	c.659C>A	c.(658-660)aCc>aAc	p.T220N		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTCCAGATTGGTCTCCTCCCC	0.552																																						uc003qoh.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(658-660)aCc>aAc		Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.							101	91	94					6																	151687542		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687542G>T	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.659C>A	6.37:g.151687542G>T	ENSP00000323183:p.Thr220Asn						p.T220N	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	2	794	-			220					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.659C>A	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117415	0.08881	.	.	ENSG00000181472	ENST00000325144	T	0.04758	3.56	5.64	4.78	0.61160	.	0.741774	0.14022	N	0.346711	T	0.00998	0.0033	N	0.08118	0	0.22591	N	0.99895	B	0.02656	0.0	B	0.01281	0.0	T	0.48340	-0.9044	10	0.46703	T	0.11	-27.079	8.2163	0.31514	0.0719:0.0:0.6592:0.2689	.	220	Q8N680	ZBTB2_HUMAN	N	220	ENSP00000323183:T220N	ENSP00000323183:T220N	T	-	2	0	ZBTB2	151729235	0.979000	0.34478	1.000000	0.80357	0.978000	0.69477	1.921000	0.40035	1.381000	0.46364	0.655000	0.94253	ACC		0.552	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		T	151687542	G	T	151687542	3	4	102	1	0	0	0	0	1	0	0	0	17525	1261	44	5	889	5	ZBTB2	6	151687542	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	24217584	151687542	19427525	13	6942											
MACC1	346389	broad.mit.edu	37	chr7	20180649	20180649	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaactccagttaattCtctccagtgtttagtcacag	12	15	5	9	0	2	0	1	0	1	0	5	0	4	0	2	0	1	2	2	0	5	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:20180649C>A	ENST00000400331.5	-	7	2787	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	MACC1_ENST00000589011.1_Nonsense_Mutation_p.E827*|MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000332878.4_Nonsense_Mutation_p.E827*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	827					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGTTAATTCTCTCCAGTGT	0.383																																						uc003sus.4																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(2479-2481)Gaa>Taa		Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.							92	97	95					7																	20180649		2203	4300	6503	SO:0001587	stop_gained	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20180649C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2479G>T	7.37:g.20180649C>A	ENSP00000383185:p.Glu827*					MACC1_uc010kug.3_Nonsense_Mutation_p.E827*	p.E827*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			6	2788	-			827					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Nonsense_Mutation	SNP	ENST00000400331.5	37	c.2479G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	43	10.031400	0.99321	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	.	.	.	5.74	5.74	0.90152	.	0.194831	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.4013	19.9351	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	X	827	.	ENSP00000328410:E827X	E	-	1	0	MACC1	20147174	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.320000	0.72876	2.703000	0.92315	0.655000	0.94253	GAA		0.383	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		A	20180649	C	A	20180649	4	1	102	1	0	0	0	0	0	1	0	0	9143	922	32	5	83	5	MACC1	7	20180649	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		20180649	138958014	14	6943											
EGFR	1956	broad.mit.edu	37	chr7	55221763	55221763	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgccccccactcatgctCtacaaccccaccacgtacca	10	6	3	22	1	2	0	1	0	1	0	2	0	2	0	8	0	5	2	8	0	3	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:55221763C>G	ENST00000275493.2	+	7	984	c.807C>G	c.(805-807)ctC>ctG	p.L269L	EGFR_ENST00000442591.1_Silent_p.L269L|EGFR_ENST00000344576.2_Silent_p.L269L|EGFR_ENST00000342916.3_Silent_p.L269L|EGFR_ENST00000420316.2_Silent_p.L269L|EGFR_ENST00000454757.2_Silent_p.L216L|EGFR_ENST00000455089.1_Silent_p.L224L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	269			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACTCATGCTCTACAACCCCA	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(805-807)ctC>ctG		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						212	166	182					7																	55221763		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221763C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.807C>G	7.37:g.55221763C>G		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Silent_p.L269L|EGFR_uc003tqi.3_Silent_p.L269L|EGFR_uc003tqj.3_Silent_p.L269L|EGFR_uc022adm.1_Silent_p.L269L|EGFR_uc010kzg.2_Silent_p.L224L|EGFR_uc022adn.1_Silent_p.L224L|EGFR_uc011kco.2_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.L269L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1053	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		269					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.807C>G	CCDS5514.1																																																																																				0.577	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55221763	C	G	55221763	2	3	102	1	0	0	0	0	0	0	0	1	4967	900	32	5		5	EGFR	7	55221763	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	35041114	55221763	103916900	15	6944											
EPHA1	2041	broad.mit.edu	37	chr7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccgggttgtggaaagCgaggtagaggccacggcggg	8	4	20	9	4	0	1	0	0	0	1	0	3	0	2	2	7	1	3	2	7	2	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:143097029C>T	ENST00000275815.3	-	4	636	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617																																						uc003wcz.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(550-552)Gct>Act		Homo sapiens EPH receptor A1 (EPHA1), mRNA.							31	32	31					7																	143097029		2203	4298	6501	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143097029C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.550G>A	7.37:g.143097029C>T	ENSP00000275815:p.Ala184Thr						p.A184T	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	637	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	184					A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.550G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578904	0.96565	.	.	ENSG00000146904	ENST00000275815	T	0.10960	2.82	4.79	4.79	0.61399	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000029	T	0.42471	0.1204	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54296	-0.8315	10	0.87932	D	0	.	18.0282	0.89275	0.0:1.0:0.0:0.0	.	184	P21709	EPHA1_HUMAN	T	184	ENSP00000275815:A184T	ENSP00000275815:A184T	A	-	1	0	EPHA1	142807151	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	7.625000	0.83145	2.469000	0.83416	0.655000	0.94253	GCT		0.617	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			T	143097029	C	T	143097029	3	4	102	1	0	0	0	0	1	0	0	0	5165	768	27	1	2440	1	EPHA1	7	143097029	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	87875266	143097029	16041634	16	6945											
BNC2	54796	broad.mit.edu	37	chr9	16437497	16437497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagacatgatggcccagCggtccagcaccttgccagca	9	6	11	15	2	0	2	0	1	0	1	2	3	1	2	4	2	4	2	4	2	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:16437497C>T	ENST00000380672.4	-	6	752	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BNC2_ENST00000545497.1_Missense_Mutation_p.R137H|BNC2_ENST00000380667.2_Missense_Mutation_p.R165H|BNC2_ENST00000380666.2_Missense_Mutation_p.R232H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATGGCCCAGCGGTCCAGCAC	0.448																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(694-696)cGc>cAc		Homo sapiens basonuclin 2 (BNC2), mRNA.							28	31	30					9																	16437497		2189	4279	6468	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437497C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.695G>A	9.37:g.16437497C>T	ENSP00000370047:p.Arg232His					BNC2_uc011lmw.2_Missense_Mutation_p.R137H|BNC2_uc003zmm.3_Missense_Mutation_p.R190H|BNC2_uc003zmq.1_Missense_Mutation_p.R246H|BNC2_uc003zmr.1_Missense_Mutation_p.R269H|BNC2_uc003zmp.1_Missense_Mutation_p.R260H|BNC2_uc010mij.1_Missense_Mutation_p.R154H|BNC2_uc011lmv.2_Missense_Mutation_p.R58H|BNC2_uc003zmo.1_Missense_Mutation_p.R154H|BNC2_uc003zmj.3_5'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_5'UTR|BNC2_uc003zmn.1_5'UTR	p.R232H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	835	-			232						Missense_Mutation	SNP	ENST00000380672.4	37	c.695G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570814	0.45798	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03801	3.8;3.8;3.8;3.8;3.8	6.07	6.07	0.98685	.	0.045107	0.85682	D	0.000000	T	0.07638	0.0192	N	0.02539	-0.55	0.80722	D	1	B;B;D;D;B;D;P	0.89917	0.03;0.311;1.0;0.999;0.026;0.999;0.793	B;B;D;D;B;D;B	0.80764	0.007;0.046;0.933;0.994;0.018;0.98;0.066	T	0.63817	-0.6551	10	0.19590	T	0.45	-19.79	20.2697	0.98465	0.0:1.0:0.0:0.0	.	137;165;269;232;58;190;232	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	H	232;189;269;260;165;137;58;232;232	ENSP00000370047:R232H;ENSP00000408370:R189H;ENSP00000370042:R165H;ENSP00000444640:R137H;ENSP00000370041:R232H	ENSP00000370041:R232H	R	-	2	0	BNC2	16427497	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.968000	0.63728	2.885000	0.99019	0.655000	0.94253	CGC		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16437497	C	T	16437497	3	4	102	1	0	0	0	0	1	0	0	0	1475	768	27	1	2612	1	BNC2	9	16437497	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		16437497	124775934	17	6946											
NOL8	55035	broad.mit.edu	37	chr9	95078415	95078415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattttgagggatcatatttGatgatgttacgcaagtcaag	12	15	10	4	1	2	3	2	3	0	0	2	4	2	4	0	1	1	2	0	1	5	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:95078415G>C	ENST00000535387.1	-	6	491	c.492C>G	c.(490-492)atC>atG	p.I164M	NOL8_ENST00000358855.4_Missense_Mutation_p.I96M|NOL8_ENST00000542053.1_Missense_Mutation_p.I96M|NOL8_ENST00000442668.2_Missense_Mutation_p.I164M|NOL8_ENST00000545558.1_Missense_Mutation_p.I164M					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATCATATTTGATGATGTTAC	0.358																																						uc022bjx.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(490-492)atC>atG		Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.							94	83	87					9																	95078415		1859	4103	5962	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078415G>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.492C>G	9.37:g.95078415G>C	ENSP00000441300:p.Ile164Met					NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.I96M	p.I164M	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			6	829	-			164						Missense_Mutation	SNP	ENST00000535387.1	37	c.492C>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	2.106	-0.404930	0.04832	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807	T;T;T;T;T;T;T;T	0.44083	2.52;2.49;2.52;2.73;2.49;2.25;0.93;0.97	5.07	0.0225	0.14133	.	0.545686	0.21062	N	0.080817	T	0.19406	0.0466	N	0.14661	0.345	0.22996	N	0.998459	B	0.25312	0.123	B	0.17979	0.02	T	0.17228	-1.0376	10	0.20519	T	0.43	-6.0484	6.6605	0.23011	0.0:0.3572:0.3296:0.3131	.	164	Q76FK4	NOL8_HUMAN	M	164;166;96;164;164;96;164;164;164;96;96	ENSP00000401177:I164M;ENSP00000351723:I96M;ENSP00000441140:I164M;ENSP00000441300:I164M;ENSP00000440709:I96M;ENSP00000414112:I164M;ENSP00000412471:I164M;ENSP00000390143:I164M	ENSP00000351723:I96M	I	-	3	3	NOL8	94118236	0.978000	0.34361	0.995000	0.50966	0.289000	0.27227	0.034000	0.13776	-0.162000	0.10964	-0.265000	0.10407	ATC		0.358	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		C	95078415	G	C	95078415	3	2	102	1	0	0	0	0	1	0	0	0	10527	1280	45	5	3055	5	NOL8	9	95078415	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	78640918	95078415	46135016	18	6947											
KIAA0368	23392	broad.mit.edu	37	chr9	114145511	114145511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagggctcgaacttccgtCacggtgctcatcattccttt	6	13	9	13	3	3	1	3	1	0	0	6	2	5	1	2	2	2	2	2	2	1	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:114145511C>T	ENST00000338205.5	-	34	4002	c.3783G>A	c.(3781-3783)gtG>gtA	p.V1261V	KIAA0368_ENST00000259335.4_Silent_p.V1439V|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1267					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAACTTCCGTCACGGTGCTCA	0.483																																						uc004bfe.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(4315-4317)gtG>gtA		Homo sapiens KIAA0368 (KIAA0368), mRNA.							64	65	64					9																	114145511		2003	4167	6170	SO:0001819	synonymous_variant	23392							g.chr9:114145511C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3783G>A	9.37:g.114145511C>T							p.V1439V	NM_001080398	NP_001073867					35	4317	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.4317G>A																																																																																					0.483	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114145511	C	T	114145511	2	4	102	1	0	0	0	0	0	0	0	1	8171	813	29	3		3	KIAA0368	9	114145511	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	19067096	114145511	27067920	19	6948											
DIP2C	22982	broad.mit.edu	37	chr10	395316	395316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgccgtcctgaaggtggcCcctctccatcagcatcacgg	6	8	11	16	3	3	1	2	1	1	0	6	1	4	1	5	3	1	1	5	3	1	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:395316C>T	ENST00000280886.6	-	25	3151	c.3064G>A	c.(3064-3066)Ggc>Agc	p.G1022S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1022						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAAGGTGGCCCCTCTCCATC	0.652																																						uc001ifp.3																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3064-3066)Ggc>Agc		Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.							111	81	91					10																	395316		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395316C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3064G>A	10.37:g.395316C>T	ENSP00000280886:p.Gly1022Ser					DIP2C_uc009xhi.1_Missense_Mutation_p.G408S	p.G1022S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	24	3154	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1022					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3064G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090504	0.76756	.	.	ENSG00000151240	ENST00000280886	T	0.24908	1.83	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.112104	0.64402	D	0.000012	T	0.38081	0.1027	M	0.61703	1.905	0.80722	D	1	P	0.34522	0.455	P	0.44811	0.461	T	0.08534	-1.0717	10	0.19590	T	0.45	-26.2524	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1022	Q9Y2E4	DIP2C_HUMAN	S	1022	ENSP00000280886:G1022S	ENSP00000280886:G1022S	G	-	1	0	DIP2C	385316	1.000000	0.71417	0.739000	0.30968	0.162000	0.22319	7.811000	0.86092	2.409000	0.81822	0.563000	0.77884	GGC		0.652	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	395316	C	T	395316	3	4	102	1	0	0	0	0	1	0	0	0	4529	623	22	3	1658	3	DIP2C	10	395316	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		395316	135139431	20	6949											
CALY	50632	broad.mit.edu	37	chr10	135142374	135142374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctggtcagggagtggCggctggagctggctgatgtc	5	9	17	10	1	2	1	2	1	0	0	3	3	2	3	1	6	1	3	1	6	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:135142374C>T	ENST00000252939.4	-	2	213	c.120G>A	c.(118-120)ccG>ccA	p.P40P	CALY_ENST00000368556.2_Silent_p.P40P|CALY_ENST00000467611.1_5'Flank|CALY_ENST00000368555.3_Silent_p.P40P|CALY_ENST00000368558.1_Silent_p.P40P|ZNF511_ENST00000368554.4_Intron	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	40					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)|endocytosis (GO:0006897)|positive regulation of endocytosis (GO:0045807)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)	clathrin light chain binding (GO:0032051)			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Trifluoperazine(DB00831)	CAGGGAGTGGCGGCTGGAGCT	0.637																																						uc001lmo.2																			0				kidney(1)|lung(2)	3						c.(118-120)ccG>ccA		Homo sapiens calcyon neuron-specific vesicular protein (CALY), mRNA.	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)						18	17	17					10																	135142374		2160	4245	6405	SO:0001819	synonymous_variant	50632				clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding	g.chr10:135142374C>T	AF225903	CCDS7678.1	10q26.3	2008-07-02	2008-01-16	2008-01-16	ENSG00000130643	ENSG00000130643			17938	protein-coding gene	gene with protein product		604647	"dopamine receptor D1 interacting protein"	DRD1IP		10698743, 17623072	Standard	NM_015722		Approved	CALCYON, NSG3	uc001lmo.2	Q9NYX4	OTTHUMG00000019310	ENST00000252939.4:c.120G>A	10.37:g.135142374C>T						ZNF511_uc021qbf.1_Intron	p.P40P	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	1	278	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	40					Q5VWX3|Q5VWY5|Q5VWY6	Silent	SNP	ENST00000252939.4	37	c.120G>A	CCDS7678.1																																																																																				0.637	CALY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051122.1	NM_015722		T	135142374	C	T	135142374	2	4	102	1	0	0	0	0	0	0	0	1	2595	755	27	1		1	CALY	10	135142374	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	134747058	135142374	392373	21	6950											
ANO9	338440	broad.mit.edu	37	chr11	419726	419726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccagcacctgcagccagGtccctgcaccagagcagtgg	8	6	11	16	0	1	1	0	0	1	1	3	1	2	1	5	2	5	4	5	2	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:419726G>T	ENST00000332826.6	-	20	1874	c.1790C>A	c.(1789-1791)aCc>aAc	p.T597N	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	597					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGCAGCCAGGTCCCTGCACC	0.637																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1789-1791)aCc>aAc		Homo sapiens anoctamin 9 (ANO9), mRNA.							105	84	91					11																	419726		2202	4300	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:419726G>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1790C>A	11.37:g.419726G>T	ENSP00000332788:p.Thr597Asn					SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.T290N|ANO9_uc010qvv.1_Missense_Mutation_p.T453N	p.T597N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			19	1875	-			597					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1790C>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884182	0.51908	.	.	ENSG00000185101	ENST00000332826	T	0.63417	-0.04	4.41	3.48	0.39840	.	0.142257	0.46442	D	0.000289	T	0.73225	0.3560	M	0.73962	2.25	0.35320	D	0.784694	D;D	0.76494	0.997;0.999	P;D	0.68621	0.878;0.959	T	0.79902	-0.1607	10	0.87932	D	0	.	6.9952	0.24779	0.2662:0.0:0.7338:0.0	.	298;597	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	N	597	ENSP00000332788:T597N	ENSP00000332788:T597N	T	-	2	0	ANO9	409726	0.762000	0.28451	1.000000	0.80357	0.399000	0.30720	3.689000	0.54706	2.171000	0.68590	0.462000	0.41574	ACC		0.637	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	419726	G	T	419726	3	4	102	1	0	0	0	0	1	0	0	0	704	1261	44	5	574	5	ANO9	11	419726	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		419726	134586790	22	6951											
CHRNA10	57053	broad.mit.edu	37	chr11	3688571	3688571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccttctcgcctgagtcGgcaggcaggtggaaggcgag	8	6	16	11	3	1	1	0	1	1	0	3	4	1	2	2	5	0	2	2	5	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:3688571G>A	ENST00000250699.2	-	4	857	c.786C>T	c.(784-786)gcC>gcT	p.A262A	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Missense_Mutation_p.P80L|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	262					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CGCCTGAGTCGGCAGGCAGGT	0.706																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(784-786)gcC>gcT		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						20	21	20					11																	3688571		2185	4273	6458	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688571G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.786C>T	11.37:g.3688571G>A						CHRNA10_uc010qxt.2_Silent_p.A56A|CHRNA10_uc010qxu.2_Silent_p.A56A	p.A262A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	858	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	262						Silent	SNP	ENST00000250699.2	37	c.786C>T	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	4.257	0.046685	0.08243	.	.	ENSG00000129749	ENST00000534359	.	.	.	5.03	-10.1	0.00402	.	.	.	.	.	T	0.29491	0.0735	.	.	.	0.23003	N	0.998445	.	.	.	.	.	.	T	0.46541	-0.9184	5	0.87932	D	0	.	4.0217	0.09668	0.1232:0.2419:0.119:0.5159	.	.	.	.	L	80	.	ENSP00000437107:P80L	P	-	2	0	CHRNA10	3645147	0.000000	0.05858	0.437000	0.26809	0.405000	0.30901	-6.137000	0.00079	-2.103000	0.00844	-1.388000	0.01159	CCG		0.706	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			A	3688571	G	A	3688571	2	1	102	1	0	0	0	0	0	0	0	1	3382	1103	39	2		2	CHRNA10	11	3688571	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	3268845	3688571	131317945	23	6952											
OR52E4	390081	broad.mit.edu	37	chr11	5906315	5906315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttttatgacacatcgtTttggccaaaacattccccac	10	15	4	12	1	1	1	0	1	1	0	3	1	2	1	3	1	1	1	3	1	3	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:5906315T>A	ENST00000316987.2	+	1	815	c.793T>A	c.(793-795)Ttt>Att	p.F265I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACATCGTTTTGGCCAAAA	0.423																																						uc010qzs.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(793-795)Ttt>Att		Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.							187	175	179					11																	5906315		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906315T>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.793T>A	11.37:g.5906315T>A	ENSP00000321426:p.Phe265Ile					TRIM5_uc001mbq.1_Intron	p.F265I	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	793	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	265					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.793T>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054247	0.55218	.	.	ENSG00000180974	ENST00000316987	T	0.39229	1.09	5.26	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.61590	0.2359	M	0.84082	2.675	0.09310	N	1	D	0.67145	0.996	D	0.74023	0.982	T	0.53774	-0.8391	10	0.87932	D	0	.	7.5241	0.27645	0.1411:0.0:0.1478:0.7111	.	265	Q8NGH9	O52E4_HUMAN	I	265	ENSP00000321426:F265I	ENSP00000321426:F265I	F	+	1	0	OR52E4	5862891	0.001000	0.12720	0.678000	0.29963	0.760000	0.43138	1.154000	0.31688	0.404000	0.25506	0.523000	0.50628	TTT		0.423	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		A	5906315	T	A	5906315	3	1	102	1	0	0	0	0	1	0	0	0	11116	1841	64	5	795	5	OR52E4	11	5906315	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	2217744	5906315	129100201	24	6953											
OR5L1	219437	broad.mit.edu	37	chr11	55579782	55579782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccgtgttctacacagtCgtgattcctatgctgaactc	8	12	8	13	2	1	2	0	2	1	0	4	2	2	2	3	0	3	2	3	0	3	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:55579782C>T	ENST00000333973.2	+	1	929	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTACACAGTCGTGATTCCTA	0.453																																						uc001nhw.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(838-840)gtC>gtT		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							68	64	65					11																	55579782		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579782C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.840C>T	11.37:g.55579782C>T							p.V280V	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			0	840	+		all_epithelial(135;0.208)	280					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.840C>T	CCDS31509.1																																																																																				0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579782	C	T	55579782	2	4	102	1	0	0	0	0	0	0	0	1	11170	871	31	2		2	OR5L1	11	55579782	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	49673467	55579782	79426734	25	6954											
PACS1	55690	broad.mit.edu	37	chr11	65977846	65977846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcagggttcaaaaagaaTtcttcgctccaacgagatcg	12	11	9	9	3	3	2	2	0	1	2	6	3	4	2	1	1	1	3	1	1	4	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:65977846T>C	ENST00000320580.4	+	3	491	c.458T>C	c.(457-459)aTt>aCt	p.I153T		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	153					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAAAAAGAATTCTTCGCTCC	0.502																																						uc001oha.2																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(457-459)aTt>aCt		Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.							130	115	120					11																	65977846		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65977846T>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.458T>C	11.37:g.65977846T>C	ENSP00000316454:p.Ile153Thr					PACS1_uc001ogz.1_Missense_Mutation_p.I153T	p.I153T	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			2	592	+			153					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.458T>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096959	0.37048	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.21361	2.01	5.28	5.28	0.74379	.	0.161605	0.52532	D	0.000069	T	0.29976	0.0750	L	0.33189	0.99	0.80722	D	1	D;D	0.65815	0.983;0.995	P;D	0.63877	0.725;0.919	T	0.03423	-1.1038	10	0.12766	T	0.61	-12.7756	14.1853	0.65601	0.0:0.0:0.0:1.0	.	153;153	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	T	153;50;55	ENSP00000316454:I153T	ENSP00000316454:I153T	I	+	2	0	PACS1	65734422	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.821000	0.86641	2.001000	0.58596	0.477000	0.44152	ATT		0.502	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		C	65977846	T	C	65977846	3	2	102	1	0	0	0	0	1	0	0	0	11372	1493	52	4	468	4	PACS1	11	65977846	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	10398064	65977846	69028670	26	6955											
KIAA1377	57562	broad.mit.edu	37	chr11	101818772	101818772	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctttagtttcccgaaaAccagttcctccattagaaga	12	13	5	11	1	1	2	0	0	1	2	5	3	4	2	4	0	1	2	4	0	5	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:101818772A>G	ENST00000263468.8	+	4	675	c.405A>G	c.(403-405)aaA>aaG	p.K135K		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	135										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTTCCCGAAAACCAGTTCCTC	0.343																																						uc001pgm.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(403-405)aaA>aaG		Homo sapiens KIAA1377 (KIAA1377), mRNA.							80	80	80					11																	101818772		2203	4299	6502	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101818772A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.405A>G	11.37:g.101818772A>G						KIAA1377_uc001pgn.3_Silent_p.K91K|KIAA1377_uc009yxa.1_5'UTR	p.K135K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	675	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	135					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.405A>G	CCDS31658.1																																																																																				0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		G	101818772	A	G	101818772	2	3	102	1	0	0	0	0	0	0	0	1	8227	40	2	4		4	KIAA1377	11	101818772	Silent	SNP	A	TCGA-06-6693-01A-11D-1845-08	35840926	101818772	33187744	27	6956											
OR6M1	390261	broad.mit.edu	37	chr11	123676994	123676994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccacgaagagagatattcGaatctccaggagagctggga	15	6	12	8	2	1	3	0	0	1	3	3	8	1	4	2	2	2	1	2	2	4	2	rs150135307	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:123676994G>A	ENST00000309154.2	-	1	101	c.64C>T	c.(64-66)Cga>Tga	p.R22*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGAGATATTCGAATCTCCAGG	0.458													G|||	2	0.000399361	0	0.0014	5008	,	,		19267	0		0	False		,,,				2504	0.001					uc010rzz.2																			0		p.R22Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(64-66)Cga>Tga		Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.		G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	97	85	89		64	1.5	0	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	OR6M1	NM_001005325.1		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		22/314	123676994	2,13000	2202	4299	6501	SO:0001587	stop_gained	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676994G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.64C>T	11.37:g.123676994G>A	ENSP00000311038:p.Arg22*						p.R22*	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	0	64	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	22					B2RNK0|Q6IEW9|Q96R37	Nonsense_Mutation	SNP	ENST00000309154.2	37	c.64C>T	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540410	0.27563	2.27E-4	1.16E-4	ENSG00000196099	ENST00000309154	.	.	.	3.57	1.55	0.23275	.	0.688322	0.11097	U	0.600087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.88	0.18850	0.0:0.1911:0.4178:0.3911	.	.	.	.	X	22	.	ENSP00000311038:R22X	R	-	1	2	OR6M1	123182204	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	1.035000	0.30216	0.156000	0.19299	0.637000	0.83480	CGA		0.458	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		A	123676994	G	A	123676994	4	1	102	1	0	0	0	0	0	1	0	0	11205	1066	37	2	880	2	OR6M1	11	123676994	Nonsense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	21858222	123676994	11329522	28	6957											
PPP1R12A	4659	broad.mit.edu	37	chr12	80191152	80191152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctattgttttctcagcttcTtgaagatcagttaatgtcac	9	17	6	9	0	4	2	3	1	2	1	5	2	4	2	1	0	1	3	1	0	3	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:80191152T>C	ENST00000450142.2	-	16	2381	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	PPP1R12A_ENST00000546369.1_Silent_p.Q618Q|PPP1R12A_ENST00000261207.5_Silent_p.Q705Q|PPP1R12A_ENST00000437004.2_Silent_p.Q705Q|PPP1R12A_ENST00000550107.1_Silent_p.Q649Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	705	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTCAGCTTCTTGAAGATCAG	0.318																																						uc001syz.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(2113-2115)caA>caG		Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.							70	58	62					12																	80191152		1828	4089	5917	SO:0001819	synonymous_variant	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80191152T>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2115A>G	12.37:g.80191152T>C						PPP1R12A_uc010suc.2_Silent_p.Q618Q|PPP1R12A_uc001sza.3_Silent_p.Q649Q|PPP1R12A_uc010sud.2_Silent_p.Q705Q|PPP1R12A_uc001szb.3_Silent_p.Q705Q|PPP1R12A_uc001szc.2_Silent_p.Q646Q	p.Q705Q	NM_002480	NP_001137358	O14974	MYPT1_HUMAN			15	2382	-			705			Interaction with ROCK2.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	c.2115A>G	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	8.940	0.965676	0.18583	.	.	ENSG00000058272	ENST00000553081	.	.	.	5.31	0.918	0.19386	.	.	.	.	.	T	0.57681	0.2070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49523	-0.8931	4	.	.	.	.	9.8146	0.40844	0.0:0.3044:0.0:0.6956	.	.	.	.	R	297	.	.	K	-	2	0	PPP1R12A	78715283	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.434000	0.21494	-0.130000	0.11599	0.482000	0.46254	AAG		0.318	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		C	80191152	T	C	80191152	2	2	102	1	0	0	0	0	0	0	0	1	12354	1606	56	4		4	PPP1R12A	12	80191152	Silent	SNP	T	TCGA-06-6693-01A-11D-1845-08		80191152	53660743	29	6958											
GPR109A	338442	broad.mit.edu	37	chr12	123187006	123187006	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgagagtgataaagaaCgccaggtccaccgagcggta	14	5	13	9	3	0	3	0	2	0	2	1	5	1	3	3	2	3	2	3	2	5	2	rs202067823	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:123187006C>T	ENST00000328880.5	-	1	884	c.825G>A	c.(823-825)gcG>gcA	p.A275A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	275					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TGATAAAGAACGCCAGGTCCA	0.542													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		23309	0		0	False		,,,				2504	0					uc001ucx.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(823-825)gcG>gcA		Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)																																			SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187006C>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.825G>A	12.37:g.123187006C>T						HCAR1_uc001ucw.1_Intron	p.A275A	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN			0	899	-			275					A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.825G>A	CCDS9235.1																																																																																				0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		T	123187006	C	T	123187006	2	4	102	1	0	0	0	0	0	0	0	1	6625	523	19	1		1	GPR109A	12	123187006	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	42995854	123187006	10664889	30	6959											
CLEC14A	161198	broad.mit.edu	37	chr14	38724093	38724093	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcgtagaattaaactTggaaatcacgctccctgatg	13	10	10	8	2	1	2	1	1	0	1	3	4	2	4	1	2	1	2	1	2	6	3	rs373659027		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724093T>A	ENST00000342213.2	-	1	1481	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	379						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAATTAAACTTGGAAATCACG	0.502																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1135-1137)Aag>Tag		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							72	61	65					14																	38724093		2203	4300	6503	SO:0001587	stop_gained	161198					integral to membrane	sugar binding	g.chr14:38724093T>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1135A>T	14.37:g.38724093T>A	ENSP00000353013:p.Lys379*						p.K379*	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1482	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		379					Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	ENST00000342213.2	37	c.1135A>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	T	36	5.860102	0.97036	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	.	.	.	4.05	0.181	0.15073	.	1.189790	0.06398	N	0.718228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.379	4.9365	0.13943	0.0:0.1093:0.4257:0.4649	.	.	.	.	X	379;144	.	ENSP00000353013:K379X	K	-	1	0	CLEC14A	37793844	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.186000	0.09670	0.030000	0.15379	-0.376000	0.06991	AAG		0.502	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		A	38724093	T	A	38724093	4	1	102	1	0	0	0	0	0	1	0	0	3499	1821	63	5	341	5	CLEC14A	14	38724093	Nonsense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08		38724093	68625447	31	6960											
CLEC14A	161198	broad.mit.edu	37	chr14	38724649	38724649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagctggaagggcgcGcgatagctcaagttagaggc	9	7	16	9	3	1	1	1	0	0	1	1	3	1	2	0	3	3	4	0	3	4	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724649G>A	ENST00000342213.2	-	1	925	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R193R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAAGGGCGCGCGATAGCTCA	0.647																																						uc001wum.1																			1	Substitution - coding silent(1)	p.R193R(2)|p.R193C(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(577-579)cgC>cgT		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							40	42	41					14																	38724649		2197	4287	6484	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724649G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.579C>T	14.37:g.38724649G>A							p.R193R	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	926	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		193					Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.579C>T	CCDS9667.1																																																																																				0.647	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		A	38724649	G	A	38724649	2	1	102	1	0	0	0	0	0	0	0	1	3499	1074	38	1		1	CLEC14A	14	38724649	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	556	38724649	68624891	32	6961											
NIN	51199	broad.mit.edu	37	chr14	51227078	51227078	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcataatggcgcacCtgaaggcacagagtgacacc	11	9	10	11	1	1	3	1	2	0	1	1	3	1	3	2	2	1	3	2	2	2	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:51227078C>G	ENST00000382041.3	-	17	2087		c.e17-1		NIN_ENST00000530997.2_Splice_Site|NIN_ENST00000245441.5_Splice_Site|NIN_ENST00000382043.4_Splice_Site|NIN_ENST00000453196.1_Splice_Site|NIN_ENST00000389868.3_Splice_Site|NIN_ENST00000324330.9_Splice_Site	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AATGGCGCACCTGAAGGCACA	0.453			T	PDGFRB	MPD																																	uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.e17-1		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							45	47	46					14																	51227078		2132	4217	6349	SO:0001630	splice_region_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51227078C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1897-1G>C	14.37:g.51227078C>G						NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.V633_splice|NIN_uc001wyk.3_Splice_Site_p.V633_splice|NIN_uc001wyo.3_Splice_Site_p.V633_splice	p.V633_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			17	2088	-	all_epithelial(31;0.00244)|Breast(41;0.127)		633					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	SNP	ENST00000382041.3	37	c.1897_splice	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277810	0.23307	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000530997;ENST00000382043;ENST00000389869;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000530853;ENST00000453196	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NIN	50296828	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	5.167000	0.64972	2.818000	0.97014	0.591000	0.81541	.		0.453	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	Intron	G	51227078	C	G	51227078	5	3	102	1	0	0	0	0	0	0	1	0	10417	695	24	5	4713	5	NIN	14	51227078	Splice_Site	SNP	C	TCGA-06-6693-01A-11D-1845-08	12502429	51227078	56122462	33	6962											
SIX4	51804	broad.mit.edu	37	chr14	61180418	61180418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaactatttccccaaGggcagcctgagtcataggga	11	9	12	9	0	1	1	1	1	0	0	2	3	2	3	3	3	2	2	3	3	5	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:61180418G>C	ENST00000216513.4	-	3	2112	c.2053C>G	c.(2053-2055)Ctt>Gtt	p.L685V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	685					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTTCCCCAAGGGCAGCCTGA	0.473																																						uc001xfc.3																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2053-2055)Ctt>Gtt		Homo sapiens SIX homeobox 4 (SIX4), mRNA.							96	85	88					14																	61180418		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180418G>C	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2053C>G	14.37:g.61180418G>C	ENSP00000216513:p.Leu685Val						p.L685V	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	2113	-			685					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.2053C>G	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976155	0.53720	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.76	5.76	0.90799	.	0.113042	0.38436	N	0.001683	D	0.91503	0.7317	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	D	0.92244	0.5803	10	0.87932	D	0	.	14.4921	0.67657	0.0701:0.0:0.9299:0.0	.	685	Q9UIU6	SIX4_HUMAN	V	685;358	ENSP00000216513:L685V;ENSP00000451537:L358V	ENSP00000216513:L685V	L	-	1	0	SIX4	60250171	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.055000	0.64282	2.882000	0.98803	0.655000	0.94253	CTT		0.473	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			C	61180418	G	C	61180418	3	2	102	1	0	0	0	0	1	0	0	0	14349	1000	35	5	296	5	SIX4	14	61180418	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	9953340	61180418	46169122	34	6963											
YY1	7528	broad.mit.edu	37	chr14	100705804	100705804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccaccaccaccaccacCatcaccaccaccaccacccg	11	1	3	26	2	1	0	1	0	0	0	1	0	1	0	12	1	0	0	12	1	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:100705804C>G	ENST00000262238.4	+	1	483	c.223C>G	c.(223-225)Cat>Gat	p.H75D	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	75	Interaction with the SMAD1/SMAD4 complex.|Poly-His.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				ccaccaccaccatcaccacca	0.726																																						uc001ygy.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(223-225)Cat>Gat		Homo sapiens YY1 transcription factor (YY1), mRNA.							16	11	13					14																	100705804		2118	4154	6272	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705804C>G	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.223C>G	14.37:g.100705804C>G	ENSP00000262238:p.His75Asp						p.H75D	NM_003403	NP_003394	P25490	TYY1_HUMAN			0	703	+		Melanoma(154;0.152)	75			Poly-His.		Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.223C>G	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.556455	0.45487	.	.	ENSG00000100811	ENST00000262238	T	0.11495	2.77	2.34	1.38	0.22167	.	0.000000	0.38897	U	0.001540	T	0.04092	0.0114	N	0.08118	0	0.23632	N	0.99725	B	0.20261	0.043	B	0.09377	0.004	T	0.45308	-0.9270	10	0.12103	T	0.63	.	7.2745	0.26275	0.2639:0.7361:0.0:0.0	.	75	P25490	TYY1_HUMAN	D	75	ENSP00000262238:H75D	ENSP00000262238:H75D	H	+	1	0	YY1	99775557	0.991000	0.36638	0.504000	0.27639	0.938000	0.57974	0.878000	0.28126	0.277000	0.22141	0.549000	0.68633	CAT		0.726	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		G	100705804	C	G	100705804	3	3	102	1	0	0	0	0	1	0	0	0	17504	594	21	5	225	5	YY1	14	100705804	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	39525386	100705804	6643736	35	6964											
BAHD1	22893	broad.mit.edu	37	chr15	40751318	40751318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctaaaactgagccaggagCgggagctacccctgcggctg	9	6	13	13	2	0	1	0	1	0	0	1	3	1	3	4	3	6	2	4	3	3	2	rs143744499	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:40751318C>T	ENST00000416165.1	+	2	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BAHD1_ENST00000560846.1_Missense_Mutation_p.R219W|BAHD1_ENST00000561234.1_Missense_Mutation_p.R219W	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	219					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GAGCCAGGAGCGGGAGCTACC	0.642																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(655-657)Cgg>Tgg		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.		C	TRP/ARG	0,4406		0,0,2203	27	32	30		655	5	1	15	dbSNP_134	30	2,8598	2.2+/-6.3	0,2,4298	no	missense	BAHD1	NM_014952.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	219/781	40751318	2,13004	2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751318C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.655C>T	15.37:g.40751318C>T	ENSP00000396976:p.Arg219Trp					BAHD1_uc001zlt.2_Missense_Mutation_p.R219W|BAHD1_uc010bbp.1_Missense_Mutation_p.R219W|BAHD1_uc001zlv.2_Missense_Mutation_p.R219W	p.R219W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	726	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	219					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.655C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503639	0.64298	0.0	2.33E-4	ENSG00000140320	ENST00000416165	T	0.24350	1.86	5.0	5.0	0.66597	.	0.171717	0.38005	N	0.001842	T	0.31071	0.0785	N	0.14661	0.345	0.42393	D	0.992533	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.68483	0.958;0.908;0.958	T	0.10965	-1.0607	10	0.87932	D	0	-19.1008	11.6758	0.51430	0.2942:0.7058:0.0:0.0	.	219;219;219	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	W	219	ENSP00000396976:R219W	ENSP00000396976:R219W	R	+	1	2	BAHD1	38538610	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.507000	0.45442	2.750000	0.94351	0.655000	0.94253	CGG		0.642	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		T	40751318	C	T	40751318	3	4	102	1	0	0	0	0	1	0	0	0	1297	759	27	1	657	1	BAHD1	15	40751318	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		40751318	61780074	36	6965											
VPS13C	54832	broad.mit.edu	37	chr15	62300907	62300907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtatttcctataaggCgcattcctaaccatataatc	11	14	6	10	1	0	0	0	0	0	0	3	0	2	0	3	2	1	3	3	2	6	9			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:62300907C>T	ENST00000261517.5	-	14	1138	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_ENST00000249837.3_Silent_p.A312A|VPS13C_ENST00000395896.4_Silent_p.A355A|VPS13C_ENST00000395898.3_Silent_p.A312A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTATAAGGCGCATTCCTAA	0.289																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1063-1065)gcG>gcA		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.							110	84	93					15																	62300907		2203	4299	6502	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62300907C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1065G>A	15.37:g.62300907C>T						VPS13C_uc002aha.3_Silent_p.A312A|VPS13C_uc002ahb.2_Silent_p.A355A|VPS13C_uc002ahc.2_Silent_p.A312A	p.A355A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			13	1156	-			355						Silent	SNP	ENST00000261517.5	37	c.1065G>A	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		T	62300907	C	T	62300907	2	4	102	1	0	0	0	0	0	0	0	1	17188	755	27	1		1	VPS13C	15	62300907	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	21549589	62300907	40230485	37	6966											
THSD4	79875	broad.mit.edu	37	chr15	72037463	72037463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcgcagtaccctatttTccgctgtgtgcacagaagca	10	10	10	11	2	0	1	0	0	0	1	2	2	1	2	2	1	3	5	2	1	3	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:72037463T>C	ENST00000355327.3	+	12	2059	c.1925T>C	c.(1924-1926)tTc>tCc	p.F642S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.F642S|THSD4_ENST00000357769.4_Missense_Mutation_p.F282S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	642					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACCCTATTTTCCGCTGTGTG	0.547																																						uc002atb.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1924-1926)tTc>tCc		Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.							306	309	308					15																	72037463		2005	4171	6176	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72037463T>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1925T>C	15.37:g.72037463T>C	ENSP00000347484:p.Phe642Ser					THSD4_uc002ate.2_Missense_Mutation_p.F282S	p.F642S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			10	2004	+			642					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1925T>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751188	0.69533	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.60548	0.18;0.18;0.18	4.96	3.78	0.43462	.	.	.	.	.	T	0.64549	0.2608	L	0.43152	1.355	0.24354	N	0.994905	P;D	0.71674	0.846;0.998	P;D	0.68192	0.597;0.956	T	0.51553	-0.8691	9	0.35671	T	0.21	.	9.3764	0.38286	0.1591:0.0:0.0:0.8409	.	282;642	B4DR13;Q6ZMP0	.;THSD4_HUMAN	S	642;642;282	ENSP00000347484:F642S;ENSP00000261862:F642S;ENSP00000350413:F282S	ENSP00000261862:F642S	F	+	2	0	THSD4	69824517	1.000000	0.71417	0.898000	0.35279	0.994000	0.84299	5.667000	0.68067	2.082000	0.62665	0.402000	0.26972	TTC		0.547	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		C	72037463	T	C	72037463	3	2	102	1	0	0	0	0	1	0	0	0	15875	1783	62	4	1967	4	THSD4	15	72037463	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	9736556	72037463	30493929	38	6967											
LRRK1	79705	broad.mit.edu	37	chr15	101569415	101569415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccaagtttgagatcGccctgcccgtcgccaatgac	7	9	10	15	3	0	2	0	2	0	1	3	3	1	2	5	1	1	1	5	1	2	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:101569415G>A	ENST00000388948.3	+	20	3300	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	LRRK1_ENST00000284395.5_Missense_Mutation_p.A978T	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTTGAGATCGCCCTGCCCGT	0.592																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2941-2943)Gcc>Acc		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							38	39	39					15																	101569415		2106	4220	6326	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101569415G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2941G>A	15.37:g.101569415G>A	ENSP00000373600:p.Ala981Thr					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.A981T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		19	3260	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		981						Missense_Mutation	SNP	ENST00000388948.3	37	c.2941G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373729	0.95923	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.77229	-1.06;-1.08	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89781	0.3961	10	0.72032	D	0.01	.	18.5571	0.91089	0.0:0.0:1.0:0.0	.	981	Q38SD2	LRRK1_HUMAN	T	981;978	ENSP00000373600:A981T;ENSP00000284395:A978T	ENSP00000284395:A978T	A	+	1	0	LRRK1	99386938	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.152000	0.94680	2.391000	0.81399	0.655000	0.94253	GCC		0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101569415	G	A	101569415	3	1	102	1	0	0	0	0	1	0	0	0	9032	1087	38	1	3015	1	LRRK1	15	101569415	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	29531952	101569415	961977	39	6968											
SRL	6345	broad.mit.edu	37	chr16	4245578	4245578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgctgcttgcggttctCgatgatgcctggtgtatcca	4	16	11	10	2	2	1	0	1	2	0	4	2	3	1	2	2	4	4	2	2	1	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:4245578C>T	ENST00000399609.3	-	5	598	c.586G>A	c.(586-588)Gag>Aag	p.E196K	SRL_ENST00000537996.1_Missense_Mutation_p.E154K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	655	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCGGTTCTCGATGATGCCT	0.443																																						uc002cvz.4																			0		p.I195I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(586-588)Gag>Aag		Homo sapiens sarcalumenin (SRL), mRNA.							135	132	133					16																	4245578		1916	4131	6047	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4245578C>T	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.586G>A	16.37:g.4245578C>T	ENSP00000382518:p.Glu196Lys					SRL_uc002cvy.4_Non-coding_Transcript	p.E196K	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			4	599	-			655			Acidic domain, probably binds calcium (By similarity).			Missense_Mutation	SNP	ENST00000399609.3	37	c.586G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524224	0.96431	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96427	-4.01;-4.01	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.97682	0.9240	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98034	1.0378	10	0.66056	D	0.02	-24.1374	19.0659	0.93110	0.0:1.0:0.0:0.0	.	196	Q86TD4-2	.	K	196;654;154	ENSP00000382518:E196K;ENSP00000440350:E154K	ENSP00000333285:E654K	E	-	1	0	SRL	4185579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.583000	0.82559	2.797000	0.96272	0.655000	0.94253	GAG		0.443	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		T	4245578	C	T	4245578	3	4	102	1	0	0	0	0	1	0	0	0	15149	893	31	2	843	2	SRL	16	4245578	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		4245578	86109175	40	6969											
CETP	1071	broad.mit.edu	37	chr16	57016107	57016107	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccgtccagagcttcctgCagtcaatgatcaccgctgtg	8	10	10	13	2	2	2	2	1	0	1	5	2	5	2	4	0	2	3	4	0	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:57016107C>T	ENST00000566128.1	+	14	1351	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	CETP_ENST00000200676.3_Nonsense_Mutation_p.Q427*|CETP_ENST00000379780.2_Nonsense_Mutation_p.Q367*					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GAGCTTCCTGCAGTCAATGAT	0.582																																						uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1279-1281)Cag>Tag		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							149	117	128					16																	57016107		2198	4300	6498	SO:0001587	stop_gained	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57016107C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1084C>T	16.37:g.57016107C>T	ENSP00000456276:p.Gln362*					CETP_uc002ekj.2_Nonsense_Mutation_p.Q367*	p.Q427*	NM_000078	NP_000069	P11597	CETP_HUMAN			13	1336	+			427						Nonsense_Mutation	SNP	ENST00000566128.1	37	c.1279C>T		.	.	.	.	.	.	.	.	.	.	c	22.3	4.272347	0.80580	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	.	.	.	3.42	-6.84	0.01687	.	0.873277	0.09848	U	0.747936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0323	1.8578	0.03182	0.1718:0.4253:0.1088:0.294	.	.	.	.	X	427;367	.	ENSP00000200676:Q427X	Q	+	1	0	CETP	55573608	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-1.132000	0.03235	-1.476000	0.01874	-0.389000	0.06534	CAG		0.582	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		T	57016107	C	T	57016107	4	4	102	1	0	0	0	0	0	1	0	0	3277	711	25	3	1333	3	CETP	16	57016107	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	52770529	57016107	33338646	41	6970											
GALNS	2588	broad.mit.edu	37	chr16	88891241	88891241	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgcccgagggtggcCgccatcagcgtgtcgccacg	4	8	15	14	5	1	0	1	0	0	0	2	1	1	0	4	2	3	1	4	2	0	1	rs398123431		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:88891241C>T	ENST00000268695.5	-	11	1264	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	GALNS_ENST00000542788.1_Silent_p.A317A	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	392			A -> V (in MPS4A). {ECO:0000269|PubMed:16287098, ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CGAGGGTGGCCGCCATCAGCG	0.627																																					GBM(129;1929 2344 25209 33204)	uc010cid.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(1192-1194)gcG>gcA		Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	Hyaluronidase(DB00070)						106	85	92					16																	88891241		2198	4300	6498	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88891241C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1176G>A	16.37:g.88891241C>T						GALNS_uc002fly.4_Silent_p.A392A|GALNS_uc002flz.4_Silent_p.A75A	p.A398A			P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	11	1435	-			392		H -> D (in MPS4A).			Q86VK3	Silent	SNP	ENST00000268695.5	37	c.1194G>A	CCDS10970.1																																																																																				0.627	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			T	88891241	C	T	88891241	2	4	102	1	0	0	0	0	0	0	0	1	6206	639	23	2		2	GALNS	16	88891241	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	31875134	88891241	1463512	42	6971											
DNAH2	146754	broad.mit.edu	37	chr17	7644166	7644166	+	Frame_Shift_Del	DEL	C	C	-																															gacaagaaggcggtggatctCtacatgctgttcaatagcga																										TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:7644166delC	ENST00000572933.1	+	11	3005	c.1545delC	c.(1543-1545)ctcfs	p.L515fs	DNAH2_ENST00000082259.3_Frame_Shift_Del_p.L597fs|DNAH2_ENST00000570791.1_Frame_Shift_Del_p.L597fs|DNAH2_ENST00000389173.2_Frame_Shift_Del_p.L515fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	515	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGTGGATCTCTACATGCTGT	0.587																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1543-1545)ctcfs		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							126	116	120					17																	7644166		2203	4300	6503	SO:0001589	frameshift_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644166delC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1545delC	17.37:g.7644166delC	ENSP00000458355:p.Leu515fs					DNAH2_uc002git.3_Frame_Shift_Del_p.L597fs|DNAH2_uc010vuk.2_Frame_Shift_Del_p.L515fs	p.L515fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			9	1559	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	515			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	c.1545delC	CCDS32551.1																																																																																				0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		-	7644166	C	-	7644166	7	5	102	1	0	1	0	1	0	0	0	0	4602	900	32	0	1583	0	DNAH2	17	7644166	Frame_Shift_Del	DEL	C	TCGA-06-6693-01A-11D-1845-08		7644166	73551044	43	6972											
CRLF3	51379	broad.mit.edu	37	chr17	29119557	29119557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctatatttcttcgactgCtcagactgtacccctcaaaa	10	13	6	12	1	3	1	2	0	1	1	4	2	3	1	2	0	3	3	2	0	5	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:29119557C>G	ENST00000324238.6	-	6	984	c.860G>C	c.(859-861)aGc>aCc	p.S287T	CRLF3_ENST00000544695.1_Missense_Mutation_p.S171T|CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	287					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTTCGACTGCTCAGACTGTA	0.423																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(859-861)aGc>aCc		Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.							145	140	141					17																	29119557		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29119557C>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.860G>C	17.37:g.29119557C>G	ENSP00000318804:p.Ser287Thr					CRLF3_uc010wbr.2_Missense_Mutation_p.S171T	p.S287T	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			5	969	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	287					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.860G>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042325	0.93685	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.27890	1.64;1.64	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59726	-0.7400	10	0.87932	D	0	-15.7903	19.0242	0.92926	0.0:1.0:0.0:0.0	.	287	Q8IUI8	CRLF3_HUMAN	T	287;171	ENSP00000318804:S287T;ENSP00000444188:S171T	ENSP00000318804:S287T	S	-	2	0	CRLF3	26143683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.468000	0.83385	0.591000	0.81541	AGC		0.423	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			G	29119557	C	G	29119557	3	3	102	1	0	0	0	0	1	0	0	0	3888	797	28	5	480	5	CRLF3	17	29119557	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	21475391	29119557	52075653	44	6973											
TMEM106A	113277	broad.mit.edu	37	chr17	41365143	41365143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaccagccattggcaGcaaggctgtcaactactcca	12	7	7	15	0	1	0	1	0	0	0	3	0	3	0	4	2	5	3	4	2	4	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:41365143G>A	ENST00000331615.3	+	3	320	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.S28N|TMEM106A_ENST00000541594.1_Intron|TMEM106A_ENST00000536052.1_Missense_Mutation_p.S28N	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	28						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCATTGGCAGCAAGGCTGTC	0.547																																						uc002idn.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(82-84)aGc>aAc		Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.							102	90	94					17																	41365143		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41365143G>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.83G>A	17.37:g.41365143G>A	ENSP00000330774:p.Ser28Asn					TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Missense_Mutation_p.S28N|TMEM106A_uc010whz.1_Missense_Mutation_p.S28N	p.S28N	NM_145041	NP_659478	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	2	320	+		Breast(137;0.0164)	28					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.83G>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358245	0.24598	.	.	ENSG00000184988	ENST00000331615;ENST00000536052	T;T	0.32272	1.88;1.46	4.71	0.304	0.15796	.	0.932866	0.09226	N	0.831160	T	0.27098	0.0664	M	0.63428	1.95	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.32481	-0.9905	10	0.38643	T	0.18	-12.4703	3.6935	0.08355	0.3651:0.0:0.4568:0.1781	.	28;28	B7Z779;Q96A25	.;T106A_HUMAN	N	28	ENSP00000330774:S28N;ENSP00000439835:S28N	ENSP00000330774:S28N	S	+	2	0	TMEM106A	38720669	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.195000	0.17155	-0.058000	0.13177	0.591000	0.81541	AGC		0.547	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		A	41365143	G	A	41365143	3	1	102	1	0	0	0	0	1	0	0	0	16017	971	34	3	85	3	TMEM106A	17	41365143	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	12245586	41365143	39830067	45	6974											
CSH2	1443	broad.mit.edu	37	chr17	61949661	61949661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaggatctgcccagtcCggcggctgccgtcttccagc	4	9	13	15	3	2	1	0	1	2	0	4	2	4	2	4	3	3	2	4	3	0	2	rs201103017		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:61949661C>T	ENST00000392886.2	-	5	630	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CSH2_ENST00000560142.1_Missense_Mutation_p.R103Q|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65Q	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCCAGTCCGGCGGCTGCC	0.547																																						uc002jch.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)cGg>cAg		Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.		C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	94	94	94		479,,194	3	0.7	17		94	1,8595		0,1,4297	no	missense,utr-3,missense	CSH2	NM_020991.3,NM_022644.3,NM_022645.2	43,,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,,benign	160/218,,65/123	61949661	1,13001	2203	4298	6501	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949661C>T	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.479G>A	17.37:g.61949661C>T	ENSP00000376623:p.Arg160Gln					CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.R65Q	p.R160Q	NM_020991	NP_066271	P01243	CSH_HUMAN			4	594	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.479G>A	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	7.943	0.743116	0.15642	0.0	1.16E-4	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.88818	-2.43;-2.3	3.97	3.0	0.34707	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.044430	0.07596	N	0.922891	D	0.83459	0.5259	L	0.33339	1.005	0.32595	N	0.526729	B;B;B	0.24533	0.001;0.001;0.105	B;B;B	0.20577	0.0;0.0;0.03	T	0.76451	-0.2954	10	0.34782	T	0.22	.	10.5523	0.45097	0.0:0.9019:0.0:0.0981	.	160;160;65	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	Q	65;160	ENSP00000308396:R65Q;ENSP00000376623:R160Q	ENSP00000308396:R65Q	R	-	2	0	CSH2	59303393	0.004000	0.15560	0.741000	0.31004	0.005000	0.04900	0.357000	0.20199	0.870000	0.35726	-0.448000	0.05591	CGG		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		T	61949661	C	T	61949661	3	4	102	1	0	0	0	0	1	0	0	0	3941	652	23	2	178	2	CSH2	17	61949661	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	20584518	61949661	19245549	46	6975											
PDE4A	5141	broad.mit.edu	37	chr19	10561526	10561526	+	Frame_Shift_Del	DEL	C	C	-																															agaaacgtgtcagcagttggCccgggagactctggaggagc																										TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:10561526delC	ENST00000352831.6	+	6	802	c.692delC	c.(691-693)gccfs	p.A231fs	PDE4A_ENST00000592685.1_Frame_Shift_Del_p.A209fs|PDE4A_ENST00000380702.2_Frame_Shift_Del_p.A209fs|PDE4A_ENST00000440014.2_Frame_Shift_Del_p.A170fs|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000293683.5_Frame_Shift_Del_p.A205fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	231					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CAGCAGTTGGCCCGGGAGACT	0.612																																						uc002moj.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(691-693)gccfs		Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						43	42	42					19																	10561526		1568	3582	5150	SO:0001589	frameshift_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561526delC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.692delC	19.37:g.10561526delC	ENSP00000270474:p.Ala231fs					PDE4A_uc021uow.1_Frame_Shift_Del_p.A209fs|PDE4A_uc002mok.2_Frame_Shift_Del_p.A205fs|PDE4A_uc002mol.2_Frame_Shift_Del_p.A170fs|PDE4A_uc002mom.2_5'Flank	p.A231fs	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		5	800	+			231					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	ENST00000352831.6	37	c.692delC	CCDS45961.1																																																																																				0.612	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			-	10561526	C	-	10561526	7	5	102	1	0	1	0	1	0	0	0	0	11639	739	26	0	1101	0	PDE4A	19	10561526	Frame_Shift_Del	DEL	C	TCGA-06-6693-01A-11D-1845-08		10561526	48567457	47	6976											
FAM129C	199786	broad.mit.edu	37	chr19	17653014	17653014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccgtgaggccgagcggAgccgggggcgcttggggcag	5	4	21	11	5	0	1	0	1	0	0	0	3	0	2	3	6	3	3	3	6	1	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:17653014A>G	ENST00000335393.4	+	11	1471	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	FAM129C_ENST00000332386.5_Missense_Mutation_p.S445G|FAM129C_ENST00000601861.1_Missense_Mutation_p.S414G|FAM129C_ENST00000300971.2_Missense_Mutation_p.S445G|FAM129C_ENST00000352727.3_Missense_Mutation_p.S445G|FAM129C_ENST00000449408.2_Missense_Mutation_p.S171G|FAM129C_ENST00000595684.1_Missense_Mutation_p.S445G|FAM129C_ENST00000599124.1_Missense_Mutation_p.S414G|FAM129C_ENST00000600871.1_Missense_Mutation_p.S391G|FAM129C_ENST00000599164.1_Missense_Mutation_p.S414G	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	445										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCCGAGCGGAGCCGGGGGCG	0.612																																						uc021uqj.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1333-1335)Agc>Ggc		Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.							108	122	117					19																	17653014		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17653014A>G	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1333A>G	19.37:g.17653014A>G	ENSP00000335040:p.Ser445Gly					FAM129C_uc021uqi.1_Missense_Mutation_p.S445G|FAM129C_uc002ngy.4_Missense_Mutation_p.S171G|FAM129C_uc010xpu.2_Missense_Mutation_p.S171G|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S171G|FAM129C_uc002nhb.3_Missense_Mutation_p.S44G	p.S445G	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			10	1471	+			445					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1333A>G	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	a	0.094	-1.162965	0.01673	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T;T	0.23754	2.23;2.26;1.92;1.93;1.89	4.77	-0.314	0.12750	.	0.937721	0.08954	N	0.869728	T	0.20292	0.0488	M	0.63428	1.95	0.09310	N	1	B;B;B;B;P;B	0.41673	0.004;0.058;0.004;0.004;0.759;0.004	B;B;B;B;B;B	0.39503	0.009;0.013;0.009;0.009;0.301;0.009	T	0.17715	-1.0360	10	0.27785	T	0.31	-4.4035	0.207	0.00152	0.3818:0.1593:0.226:0.233	.	391;445;445;445;171;445	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.;.	G	445;445;445;445;171;391	ENSP00000335040:S445G;ENSP00000333447:S445G;ENSP00000341067:S445G;ENSP00000300971:S445G;ENSP00000394929:S171G	ENSP00000300971:S445G	S	+	1	0	FAM129C	17514014	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.489000	0.22387	-0.074000	0.12820	0.478000	0.44815	AGC		0.612	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		G	17653014	A	G	17653014	3	3	102	1	0	0	0	0	1	0	0	0	5438	304	11	4	1375	4	FAM129C	19	17653014	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	7091488	17653014	41475969	48	6977											
ZNF208	7757	broad.mit.edu	37	chr19	22155056	22155056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactaaagactgacaaccagCtgaaggctttgccacattct	13	10	7	11	0	1	3	0	2	1	1	1	3	1	3	2	1	4	2	2	1	5	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:22155056C>T	ENST00000397126.4	-	4	2928	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	927					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACAACCAGCTGAAGGCTTT	0.393																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2779-2781)aGc>aAc		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							52	54	53					19																	22155056		2055	4214	6269	SO:0001583	missense	7757							g.chr19:22155056C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2780G>A	19.37:g.22155056C>T	ENSP00000380315:p.Ser927Asn					ZNF208_uc002nqo.1_Intron	p.S927N	NM_007153	NP_009084					3	2929	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2780G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.411	-0.913149	0.02415	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	3.07	-6.14	0.02111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.40646	-0.9552	8	0.24483	T	0.36	.	1.8086	0.03086	0.2525:0.3465:0.2576:0.1433	.	827	O43345	ZN208_HUMAN	N	927;827	ENSP00000380315:S927N	ENSP00000380315:S927N	S	-	2	0	ZNF208	21946896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.124000	0.00044	-2.220000	0.00728	-1.660000	0.00751	AGC		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22155056	C	T	22155056	3	4	102	1	0	0	0	0	1	0	0	0	17763	797	28	3	1066	3	ZNF208	19	22155056	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	4502042	22155056	36973927	49	6978											
ZNF180	7733	broad.mit.edu	37	chr19	44981361	44981361	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtttatagctctgcctgAatgactttccacattgattg	10	16	7	8	0	1	3	0	3	1	0	2	3	2	3	2	0	2	2	2	0	4	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:44981361A>C	ENST00000221327.4	-	5	1618	c.1337T>G	c.(1336-1338)tTc>tGc	p.F446C	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.F419C|ZNF180_ENST00000391956.4_Missense_Mutation_p.F421C|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1336-1338)tTc>tGc		Homo sapiens zinc finger protein 180 (ZNF180), mRNA.							76	78	77					19																	44981361		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981361A>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1337T>G	19.37:g.44981361A>C	ENSP00000221327:p.Phe446Cys					ZNF180_uc002ozh.4_Missense_Mutation_p.F103C|ZNF180_uc002ozi.4_Missense_Mutation_p.F419C|ZNF180_uc002ozg.4_Missense_Mutation_p.F445C|ZNF180_uc010ejm.3_Missense_Mutation_p.F421C	p.F446C	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			4	1619	-		Prostate(69;0.0435)	446					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1337T>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626328	0.66901	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.45668	0.89;0.89	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000478	T	0.71039	0.3293	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78720	-0.2094	10	0.87932	D	0	-9.9259	14.0492	0.64725	1.0:0.0:0.0:0.0	.	421;445;446	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	C	446;421	ENSP00000221327:F446C;ENSP00000375818:F421C	ENSP00000221327:F446C	F	-	2	0	ZNF180	49673201	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.618000	0.61211	1.950000	0.56595	0.377000	0.23210	TTC		0.393	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		C	44981361	A	C	44981361	3	2	102	1	0	0	0	0	1	0	0	0	17745	246	9	5	745	5	ZNF180	19	44981361	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	22826305	44981361	14147622	50	6979											
TMC2	117532	broad.mit.edu	37	chr20	2616589	2616589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggccatttactaccTgaactcagtttccaaaagcc	11	11	6	13	0	1	1	1	1	0	0	2	1	2	1	4	1	5	2	4	1	5	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:2616589T>A	ENST00000358864.1	+	18	2339	c.2324T>A	c.(2323-2325)cTg>cAg	p.L775Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	775					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTACTACCTGAACTCAGTT	0.502																																						uc002wgf.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2323-2325)cTg>cAg		Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.							115	97	103					20																	2616589		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2616589T>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2324T>A	20.37:g.2616589T>A	ENSP00000351732:p.Leu775Gln					TMC2_uc002wgg.1_Missense_Mutation_p.L759Q	p.L775Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			17	2339	+			775					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2324T>A	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946021	0.73672	.	.	ENSG00000149488	ENST00000358864	T	0.70399	-0.48	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.84206	0.5421	M	0.84082	2.675	0.46901	D	0.999242	D	0.89917	1.0	D	0.83275	0.996	D	0.86428	0.1759	10	0.87932	D	0	-10.3913	12.3508	0.55146	0.0:0.0:0.0:1.0	.	775	Q8TDI7	TMC2_HUMAN	Q	775	ENSP00000351732:L775Q	ENSP00000351732:L775Q	L	+	2	0	TMC2	2564589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.636000	0.54317	2.232000	0.73038	0.533000	0.62120	CTG		0.502	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2616589	T	A	2616589	3	1	102	1	0	0	0	0	1	0	0	0	15982	1580	55	5	2394	5	TMC2	20	2616589	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08		2616589	60408931	51	6980											
PLTP	5360	broad.mit.edu	37	chr20	44528299	44528299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccaatctgcagcatggtcTtcagaggggcctgtaatggg	8	9	13	11	0	3	1	1	0	2	1	3	1	3	1	3	4	2	3	3	4	2	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:44528299T>C	ENST00000477313.1	-	13	1838	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	PLTP_ENST00000420868.2_Missense_Mutation_p.K320R|PLTP_ENST00000372431.3_Missense_Mutation_p.K415R|PLTP_ENST00000354050.4_Missense_Mutation_p.K363R|PLTP_ENST00000542937.1_Missense_Mutation_p.K435R|PLTP_ENST00000372420.1_Missense_Mutation_p.K327R			P55058	PLTP_HUMAN	phospholipid transfer protein	415					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCATGGTCTTCAGAGGGGC	0.602																																						uc002xqm.2																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1303-1305)aAg>aGg		Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.							72	65	67					20																	44528299		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44528299T>C	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1244A>G	20.37:g.44528299T>C	ENSP00000417138:p.Lys415Arg					PLTP_uc002xql.2_Missense_Mutation_p.K327R|PLTP_uc010zxj.2_Missense_Mutation_p.K320R|PLTP_uc002xqq.2_Missense_Mutation_p.K384R|PLTP_uc002xqn.2_Missense_Mutation_p.K415R|PLTP_uc002xqo.2_Missense_Mutation_p.K363R	p.K435R	NM_001242921	NP_001229850	P55058	PLTP_HUMAN			12	1839	-		Myeloproliferative disorder(115;0.0122)	415					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.1304A>G	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006267	0.74932	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	4.7	4.7	0.59300	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.68317	2.08	0.58432	D	0.999996	D;D;D;D;D;D	0.71674	0.998;0.994;0.994;0.957;0.994;0.994	D;D;D;P;D;D	0.67725	0.953;0.938;0.938;0.471;0.938;0.938	T	0.01972	-1.1237	10	0.56958	D	0.05	-34.0673	14.3327	0.66569	0.0:0.0:0.0:1.0	.	320;327;415;363;415;435	E7EV16;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	R	327;415;363;415;435;320	ENSP00000361497:K327R;ENSP00000361508:K415R;ENSP00000335290:K363R;ENSP00000417138:K415R;ENSP00000440296:K435R;ENSP00000411671:K320R	ENSP00000335290:K363R	K	-	2	0	PLTP	43961706	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.824000	0.75288	1.980000	0.57719	0.445000	0.29226	AAG		0.602	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		C	44528299	T	C	44528299	3	2	102	1	0	0	0	0	1	0	0	0	12114	1609	56	4	249	4	PLTP	20	44528299	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	41911710	44528299	18497221	52	6981											
ZGPAT	84619	broad.mit.edu	37	chr20	62367145	62367145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaggcatagcgtggcGtcagcccagctgcaggagaa	9	5	14	13	3	1	1	1	0	0	1	2	2	2	1	2	3	4	4	2	3	2	1	rs571008731		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:62367145G>A	ENST00000328969.5	+	7	1597	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ZGPAT_ENST00000357119.4_Silent_p.A461A|RP4-583P15.14_ENST00000467211.1_5'Flank|ZGPAT_ENST00000355969.6_Silent_p.A470A|ZGPAT_ENST00000448100.2_Silent_p.A470A|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.A470A|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.R376H	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	490					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATAGCGTGGCGTCAGCCCAGC	0.692																																						uc002ygk.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(1468-1470)gcG>gcA		Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.							11	12	12					20																	62367145		2155	4215	6370	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62367145G>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1470G>A	20.37:g.62367145G>A						ZGPAT_uc002ygi.2_Silent_p.A470A|ZGPAT_uc010gkk.2_Silent_p.A47A|ZGPAT_uc010gkl.2_Silent_p.A470A|ZGPAT_uc002ygm.3_Silent_p.A461A|ZGPAT_uc002ygj.2_Silent_p.A470A|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	p.A490A	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			6	1659	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		490					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.1470G>A	CCDS13534.1																																																																																				0.692	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		A	62367145	G	A	62367145	2	1	102	1	0	0	0	0	0	0	0	1	17671	1132	40	1		1	ZGPAT	20	62367145	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	17838846	62367145	658375	53	6982											
UMODL1	89766	broad.mit.edu	37	chr21	43524008	43524008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcccaccagtggtgtctGacttgtaccgaagtgggaag	8	10	12	11	1	1	1	0	1	1	0	2	3	2	2	4	2	1	1	4	2	3	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524008G>C	ENST00000408910.2	+	9	1330	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	UMODL1_ENST00000400427.1_Missense_Mutation_p.D372H|UMODL1_ENST00000400424.2_Missense_Mutation_p.D372H|C21orf128_ENST00000329015.2_Silent_p.V75V|UMODL1_ENST00000408989.2_Missense_Mutation_p.D444H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	444	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGGTGTCTGACTTGTACCG	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1330-1332)Gac>Cac		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							225	170	189					21																	43524008		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524008G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1330G>C	21.37:g.43524008G>C	ENSP00000386147:p.Asp444His					UMODL1_uc002zad.1_Missense_Mutation_p.D372H|UMODL1_uc002zae.1_Missense_Mutation_p.D372H|UMODL1_uc002zaf.1_Missense_Mutation_p.D444H|UMODL1_uc010gow.1_Missense_Mutation_p.D236H|UMODL1_uc002zai.1_Missense_Mutation_p.D95H|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.D95H|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.D189H|C21orf128_uc002zak.2_Silent_p.V75V	p.D444H	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			8	1330	+			444			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1330G>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258187	0.39896	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.49	2.58	0.30949	SEA (1);	0.446409	0.18498	N	0.139443	T	0.52773	0.1755	M	0.65975	2.015	0.20307	N	0.999919	D;D;D	0.69078	0.99;0.997;0.969	D;D;D	0.71870	0.938;0.975;0.944	T	0.34527	-0.9825	10	0.62326	D	0.03	-26.671	9.1346	0.36866	0.11:0.0:0.89:0.0	.	372;444;444	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	H	372;372;444;444	ENSP00000383279:D372H;ENSP00000383276:D372H;ENSP00000386126:D444H;ENSP00000386147:D444H	ENSP00000383276:D372H	D	+	1	0	UMODL1	42397077	0.007000	0.16637	0.027000	0.17364	0.029000	0.11900	1.407000	0.34657	0.999000	0.39023	0.655000	0.94253	GAC		0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43524008	G	C	43524008	3	2	102	1	0	0	0	0	1	0	0	0	16977	1290	45	5	1364	5	UMODL1	21	43524008	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		43524008	4605887	54	6983											
UMODL1	89766	broad.mit.edu	37	chr21	43524114	43524114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccccgggtttcccatggGcatctccacgctggccccca	5	7	11	18	2	1	0	0	0	1	0	3	1	2	1	6	4	0	3	6	4	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524114G>C	ENST00000408910.2	+	9	1436	c.1436G>C	c.(1435-1437)gGc>gCc	p.G479A	UMODL1_ENST00000400427.1_Missense_Mutation_p.G407A|UMODL1_ENST00000400424.2_Missense_Mutation_p.G407A|C21orf128_ENST00000329015.2_Missense_Mutation_p.A40G|UMODL1_ENST00000408989.2_Missense_Mutation_p.G479A	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	479	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCCCATGGGCATCTCCACG	0.622																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1435-1437)gGc>gCc		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							119	116	117					21																	43524114		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524114G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1436G>C	21.37:g.43524114G>C	ENSP00000386147:p.Gly479Ala					UMODL1_uc002zad.1_Missense_Mutation_p.G407A|UMODL1_uc002zae.1_Missense_Mutation_p.G407A|UMODL1_uc002zaf.1_Missense_Mutation_p.G479A|UMODL1_uc010gow.1_Missense_Mutation_p.G271A|UMODL1_uc002zai.1_Missense_Mutation_p.G130A|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.G130A|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.G224A|C21orf128_uc002zak.2_Missense_Mutation_p.A40G	p.G479A	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			8	1436	+			479			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1436G>C	CCDS42936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.631|8.631	0.893709|0.893709	0.17613|0.17613	.|.	.|.	ENSG00000184385|ENSG00000177398	ENST00000329015|ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T|T;T;T;T	0.55052|0.38077	0.54|1.16;1.16;1.16;1.16	3.49|3.49	-2.52|-2.52	0.06346|0.06346	.|SEA (1);	.|1.968120	.|0.02869	.|N	.|0.131242	T|T	0.40815|0.40815	0.1132|0.1132	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	B|B;B;B	0.02656|0.32753	0.0|0.36;0.383;0.067	B|B;B;B	0.01281|0.40009	0.0|0.098;0.316;0.101	T|T	0.42481|0.42481	-0.9449|-0.9449	9|10	0.87932|0.62326	D|D	0|0.03	-2.2341|-2.2341	4.5218|4.5218	0.11962|0.11962	0.4413:0.3159:0.2428:0.0|0.4413:0.3159:0.2428:0.0	.|.	40|407;479;479	Q8N2C9|Q5DID0-3;Q5DID0-2;Q5DID0	CU128_HUMAN|.;.;UROL1_HUMAN	G|A	40|407;407;479;479	ENSP00000328495:A40G|ENSP00000383279:G407A;ENSP00000383276:G407A;ENSP00000386126:G479A;ENSP00000386147:G479A	ENSP00000328495:A40G|ENSP00000383276:G407A	A|G	-|+	2|2	0|0	C21orf128|UMODL1	42397183|42397183	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.194000|0.194000	0.17135|0.17135	-0.578000|-0.578000	0.05959|0.05959	-0.127000|-0.127000	0.14921|0.14921	GCC|GGC		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43524114	G	C	43524114	3	2	102	1	0	0	0	0	1	0	0	0	16977	1203	42	5	1470	5	UMODL1	21	43524114	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	106	43524114	4605781	55	6984											
TRPM2	7226	broad.mit.edu	37	chr21	45817635	45817635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggtccccagagccaGgactgcatcgcagcggcctt	6	8	11	16	2	1	1	0	0	1	1	4	2	3	2	5	3	3	2	5	3	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:45817635G>C	ENST00000397928.1	+	13	2383	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	TRPM2_ENST00000300482.5_Missense_Mutation_p.Q646H|TRPM2_ENST00000300481.9_Missense_Mutation_p.Q626H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q646H|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	646					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAGAGCCAGGACTGCATCG	0.627																																						uc010gpt.1																			0		p.S645R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1936-1938)caG>caC		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							38	34	35					21																	45817635		2202	4294	6496	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45817635G>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1938G>C	21.37:g.45817635G>C	ENSP00000381023:p.Gln646His					TRPM2_uc002zet.1_Missense_Mutation_p.Q646H|TRPM2_uc002zeu.1_Missense_Mutation_p.Q646H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.Q646H|TRPM2_uc002zex.1_Missense_Mutation_p.Q432H|TRPM2_uc002zey.1_Missense_Mutation_p.Q159H	p.Q646H	NM_003307	NP_003298	O94759	TRPM2_HUMAN			12	2038	+			646					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1938G>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314818	0.23908	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.8	3.91	0.45181	.	0.338274	0.30930	N	0.008593	T	0.59445	0.2194	L	0.33753	1.03	0.42091	D	0.991295	B;B;B	0.24092	0.097;0.011;0.097	B;B;B	0.17098	0.017;0.007;0.017	T	0.57323	-0.7831	10	0.33141	T	0.24	-24.3103	8.305	0.32036	0.0833:0.1577:0.7589:0.0	.	646;432;646	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	646;646;626;646	ENSP00000300482:Q646H;ENSP00000381023:Q646H;ENSP00000300481:Q626H;ENSP00000381026:Q646H	ENSP00000300481:Q626H	Q	+	3	2	TRPM2	44642063	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.731000	0.38135	2.206000	0.71126	0.585000	0.79938	CAG		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		C	45817635	G	C	45817635	3	2	102	1	0	0	0	0	1	0	0	0	16583	991	35	5	1988	5	TRPM2	21	45817635	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	2293521	45817635	2312260	56	6985											
PHEX	5251	broad.mit.edu	37	chrX	22132590	22132590	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggtaatccaggggacCacaactttgctgcctcaatg	11	8	9	13	0	1	0	1	0	0	0	2	1	2	1	4	3	3	2	4	3	3	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:22132590C>G	ENST00000379374.4	+	11	1753	c.1188C>G	c.(1186-1188)acC>acG	p.T396T	PHEX_ENST00000535894.1_Silent_p.T299T|PHEX_ENST00000537599.1_Silent_p.T396T|PHEX_ENST00000418858.3_Silent_p.T99T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	396					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCCAGGGGACCACAACTTTGC	0.398																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1186-1188)acC>acG		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							156	135	142					X																	22132590		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22132590C>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1188C>G	X.37:g.22132590C>G						PHEX_uc011mjr.2_Silent_p.T396T|PHEX_uc011mjs.2_Silent_p.T299T	p.T396T	NM_000444	NP_000435	P78562	PHEX_HUMAN			10	1391	+			396					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.1188C>G	CCDS14204.1																																																																																				0.398	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		G	22132590	C	G	22132590	2	3	102	1	0	0	0	0	0	0	0	1	11819	581	21	5		5	PHEX	23	22132590	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		22132590	133137970	57	6986											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999308	27999308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatcaccaccatctccGgtcgatggctctgtggctgc	5	11	11	14	2	3	0	1	0	2	0	5	1	3	0	3	4	1	3	3	4	1	1	rs147579544	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:27999308G>A	ENST00000441525.1	-	1	258	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	48										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACCATCTCCGGTCGATGGCT	0.532													G|||	1	0.000264901	8e-04	0	3775	,	,		13623	0		0	False		,,,				2504	0					uc004dbx.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(142-144)acC>acT		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.		G		0,3833		0,0,1631,571	104	77	86		144	-1.7	0	X	dbSNP_134	86	5,6723		0,5,2423,1872	no	coding-synonymous	DCAF8L1	NM_001017930.1		0,5,4054,2443	AA,AG,GG,G		0.0743,0.0,0.0473		48/601	27999308	5,10556	2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999308G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.144C>T	X.37:g.27999308G>A							p.T48T	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	259	-			48					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.144C>T	CCDS35222.1																																																																																				0.532	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		A	27999308	G	A	27999308	2	1	102	1	0	0	0	0	0	0	0	1	4277	1103	39	2		2	DCAF8L1	23	27999308	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	5866718	27999308	127271252	58	6987											
MAGEB16	139604	broad.mit.edu	37	chrX	35821053	35821053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatctttggagagcccaGaatgctcatcaccaaagatt	12	11	7	11	0	4	3	3	0	1	3	4	4	4	3	2	1	2	1	2	1	2	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:35821053G>A	ENST00000399989.1	+	2	1019	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MAGEB16_ENST00000399987.1_Missense_Mutation_p.R247K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R247K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R279K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R247K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	247	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGAGAGCCCAGAATGCTCATC	0.493																																						uc010ngt.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(739-741)aGa>aAa		Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.							45	44	44					X																	35821053		2167	4284	6451	SO:0001583	missense	139604							g.chrX:35821053G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.740G>A	X.37:g.35821053G>A	ENSP00000382871:p.Arg247Lys					MAGEB16_uc022bus.1_Missense_Mutation_p.R247K	p.R247K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			1	1019	+			247			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.740G>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161867	0.09287	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71	3.06	-4.85	0.03142	.	0.390356	0.28766	N	0.014212	T	0.02929	0.0087	N	0.25647	0.755	0.09310	N	1	B	0.16802	0.019	B	0.23419	0.046	T	0.29366	-1.0014	10	0.39692	T	0.17	.	6.1748	0.20437	0.6098:0.147:0.2432:0.0	.	247	A2A368	MAGBG_HUMAN	K	247;279;247;247;247	ENSP00000382870:R247K;ENSP00000382874:R279K;ENSP00000382869:R247K;ENSP00000382871:R247K;ENSP00000382867:R247K	ENSP00000382867:R247K	R	+	2	0	MAGEB16	35730974	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.877000	0.04197	-1.572000	0.01661	-0.441000	0.05720	AGA		0.493	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			A	35821053	G	A	35821053	3	1	102	1	0	0	0	0	1	0	0	0	9174	942	33	3	742	3	MAGEB16	23	35821053	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	7821745	35821053	119449507	59	6988											
GPR82	27197	broad.mit.edu	37	chrX	41587247	41587247	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagacactatataatcTctttacaaagtctaattcag	17	12	4	8	0	3	2	1	0	2	2	4	2	3	2	0	0	1	0	0	0	8	7	rs144887525		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:41587247T>G	ENST00000302548.4	+	3	1208	c.968T>G	c.(967-969)cTc>cGc	p.L323R	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTATATAATCTCTTTACAAAG	0.333																																						uc022bvd.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(967-969)cTc>cGc		Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.							18	17	17					X																	41587247		2188	4272	6460	SO:0001583	missense	27197					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:41587247T>G	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.968T>G	X.37:g.41587247T>G	ENSP00000303549:p.Leu323Arg					CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Missense_Mutation_p.L323R	p.L323R	NM_080817	NP_543007	Q96P67	GPR82_HUMAN			0	968	+			323					Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	c.968T>G	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151278	0.57151	.	.	ENSG00000171657	ENST00000302548	T	0.45276	0.9	5.29	5.29	0.74685	.	0.000000	0.49305	D	0.000154	T	0.52484	0.1737	L	0.53561	1.675	0.37047	D	0.897434	P	0.45768	0.866	P	0.53809	0.735	T	0.62803	-0.6777	10	0.87932	D	0	-3.9778	13.2039	0.59785	0.0:0.0:0.0:1.0	.	323	Q96P67	GPR82_HUMAN	R	323	ENSP00000303549:L323R	ENSP00000303549:L323R	L	+	2	0	GPR82	41472191	0.994000	0.37717	0.969000	0.41365	0.876000	0.50452	3.707000	0.54838	1.864000	0.54056	0.481000	0.45027	CTC		0.333	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		G	41587247	T	G	41587247	3	3	102	1	0	0	0	0	1	0	0	0	6712	1551	54	5	970	5	GPR82	23	41587247	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	5766194	41587247	113683313	60	6989											
MAGIX	79917	broad.mit.edu	37	chrX	49021421	49021421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacagcgctgtggtcGtttggaggtgagccctgaag	7	8	15	11	2	0	2	0	2	0	0	1	3	0	3	2	3	3	3	2	3	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:49021421G>A	ENST00000412696.2	+	4	500	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MAGIX_ENST00000376339.1_Missense_Mutation_p.R108H|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376338.3_Missense_Mutation_p.R108H	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	167	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.																CGCTGTGGTCGTTTGGAGGTG	0.622													G|||	1	0.000264901	0	0	3775	,	,		13255	0		0	False		,,,				2504	0.001					uc010nin.1																			0											c.(499-501)cGt>cAt		Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.							33	35	35					X																	49021421		2093	4188	6281	SO:0001583	missense	79917							g.chrX:49021421G>A	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.500G>A	X.37:g.49021421G>A	ENSP00000387928:p.Arg167His					MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.R108H|MAGIX_uc004dmw.2_Missense_Mutation_p.R100H	p.R167H	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			3	547	+			167			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.500G>A	CCDS48106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.30|12.30	1.896778|1.896778	0.33535|0.33535	.|.	.|.	ENSG00000017621|ENSG00000017621	ENST00000376339;ENST00000412696;ENST00000376338;ENST00000425285|ENST00000415364	T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92|.	4.49|4.49	-1.52|-1.52	0.08637|0.08637	PDZ/DHR/GLGF (4);|.	0.719415|.	0.12081|.	N|.	0.501327|.	T|T	0.44052|0.44052	0.1275|0.1275	M|M	0.74647|0.74647	2.275|2.275	0.20074|0.20074	N|N	0.999934|0.999934	P;B;B|.	0.34757|.	0.467;0.257;0.257|.	B;B;B|.	0.32465|.	0.146;0.03;0.03|.	T|T	0.43507|0.43507	-0.9387|-0.9387	10|5	0.54805|.	T|.	0.06|.	-2.153|-2.153	3.9945|3.9945	0.09551|0.09551	0.4379:0.0:0.3959:0.1662|0.4379:0.0:0.3959:0.1662	.|.	167;108;108|.	Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2|.	MAGIX_HUMAN;.;.|.	H|I	108;167;108;113|136	ENSP00000365517:R108H;ENSP00000387928:R167H;ENSP00000365516:R108H;ENSP00000411713:R113H|.	ENSP00000365516:R108H|.	R|V	+|+	2|1	0|0	MAGIX|MAGIX	48908365|48908365	0.000000|0.000000	0.05858|0.05858	0.666000|0.666000	0.29783|0.29783	0.796000|0.796000	0.44982|0.44982	-0.089000|-0.089000	0.11180|0.11180	-0.312000|-0.312000	0.08741|0.08741	0.529000|0.529000	0.55759|0.55759	CGT|GTT		0.622	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		A	49021421	G	A	49021421	3	1	102	1	0	0	0	0	1	0	0	0	9193	1145	40	1	554	1	MAGIX	23	49021421	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	7434174	49021421	106249139	61	6990											
TNFRSF8	943	broad.mit.edu	37	chr1	12172043	12172043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggacgaggccggccgCtgcacggcctgcgtgagctg	5	6	16	14	5	0	1	0	1	0	0	0	3	0	2	4	4	4	3	4	4	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:12172043C>T	ENST00000263932.2	+	7	987	c.765C>T	c.(763-765)cgC>cgT	p.R255R	TNFRSF8_ENST00000417814.2_Silent_p.R144R	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	255					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGGCCGGCCGCTGCACGGCCT	0.587																																						uc001atq.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(763-765)cgC>cgT		Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.							46	44	45					1																	12172043		2203	4300	6503	SO:0001819	synonymous_variant	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12172043C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.765C>T	1.37:g.12172043C>T						TNFRSF8_uc010obc.2_Silent_p.R144R	p.R255R	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	987	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	255					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	c.765C>T	CCDS144.1																																																																																				0.587	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12172043	C	T	12172043	2	4	103	1	0	0	0	0	0	0	0	1	16296	784	28	3		3	TNFRSF8	1	12172043	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		12172043	237078578	1	6991											
LOC440563	0	broad.mit.edu	37	chr1	13183578	13183578	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacatctccgctgcggatcGtttcacacctgcgtttcctc	5	13	8	15	4	2	0	1	0	1	0	6	1	3	1	3	1	3	4	3	1	1	3	rs115194400	byFrequency	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:13183578G>A								RP13-221M14.3 (19110 upstream) : PRAMEF26 (32777 downstream)																							GCTGCGGATCGTTTCACACCT	0.502																																						uc010obg.2																			0											c.(295-297)Cga>Tga		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.							97	75	82					1																	13183578		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183578G>A																													1.37:g.13183578G>A							p.R99*	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	538	-			99						Nonsense_Mutation	SNP		37	c.295C>T																																																																																				0	0.502									A	13183578	G	A	13183578	1	1	103	0	1	0	0	0	0	0	0	0	8879	1153	40	1		1	LOC440563	1	13183578	IGR	SNP	G	TCGA-06-6694-01A-12D-1845-08	1011535	13183578	236067043	2	6992											
EPHA10	284656	broad.mit.edu	37	chr1	38227194	38227194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggctgccaggctccccttCcgagtgcgccacgcacgttc	4	7	13	17	4	0	0	0	0	0	0	3	1	2	0	5	3	2	4	5	3	0	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:38227194C>T	ENST00000373048.4	-	3	732	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E245K|EPHA10_ENST00000319637.6_Missense_Mutation_p.E245K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	245					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTTCCGAGTGCGCC	0.736																																						uc009vvi.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(733-735)Gaa>Aaa		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							17	19	19					1																	38227194		2189	4260	6449	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227194C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.733G>A	1.37:g.38227194C>T	ENSP00000362139:p.Glu245Lys					EPHA10_uc001cbw.4_Missense_Mutation_p.E245K	p.E245K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	819	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	245					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.733G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237654	0.58886	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.76448	-1.02;-1.02;4.41	4.4	4.4	0.53042	.	0.000000	0.42964	D	0.000623	T	0.70710	0.3255	L	0.52126	1.63	0.80722	D	1	P;P	0.45126	0.851;0.516	B;B	0.38755	0.253;0.281	T	0.72693	-0.4216	10	0.37606	T	0.19	.	13.9287	0.63981	0.0:0.8468:0.1531:0.0	.	245;245	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	245	ENSP00000397746:E245K;ENSP00000362139:E245K;ENSP00000316395:E245K	ENSP00000316395:E245K	E	-	1	0	EPHA10	37999781	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.649000	0.54417	2.411000	0.81874	0.551000	0.68910	GAA		0.736	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227194	C	T	38227194	3	4	103	1	0	0	0	0	1	0	0	0	5166	864	30	3	2391	3	EPHA10	1	38227194	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	25043616	38227194	211023427	3	6993											
MACF1	23499	broad.mit.edu	37	chr1	39924911	39924911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgatgccttggatcGgctggaggaggtaatgccct	9	10	14	8	1	0	2	0	2	0	0	1	5	0	5	2	5	2	2	2	5	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:39924911G>A	ENST00000372915.3	+	90	21134	c.21047G>A	c.(21046-21048)cGg>cAg	p.R7016Q	MACF1_ENST00000361689.2_Missense_Mutation_p.R5058Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7154Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4928Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R7117Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5560Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R5058Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R5058Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7016					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTGGATCGGCTGGAGGAG	0.512																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16678-16680)cGg>cAg		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							59	53	55					1																	39924911		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924911G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21047G>A	1.37:g.39924911G>A	ENSP00000362006:p.Arg7016Gln					MACF1_uc021ols.1_Missense_Mutation_p.R5055Q|MACF1_uc021olt.1_Missense_Mutation_p.R5058Q|MACF1_uc001cde.2_5'Flank	p.R5560Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		55	16679	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7016					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16679G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.507542|4.507542	0.85282|0.85282	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.63913	.|-0.04;0.02;-0.04;-0.07;0.13;1.12	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.78534|0.78534	0.4298|0.4298	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.973	T|T	0.75110|0.75110	-0.3433|-0.3433	5|9	.|.	.|.	.|.	.|.	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|7016;5058	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	S|Q	160|5058;7016;5058;5058;4928;5560	.|ENSP00000439537:R5058Q;ENSP00000362006:R7016Q;ENSP00000354573:R5058Q;ENSP00000313438:R5058Q;ENSP00000444364:R4928Q;ENSP00000289893:R5560Q	.|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39697498|39697498	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.113000|0.113000	0.19764|0.19764	9.744000|9.744000	0.98853|0.98853	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39924911	G	A	39924911	3	1	103	1	0	0	0	0	1	0	0	0	9144	1116	39	2	21670	2	MACF1	1	39924911	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1697717	39924911	209325710	4	6994											
KIAA0467	23334	broad.mit.edu	37	chr1	43912755	43912755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatctggtgctgcggcacGgctaccacctcaccaccttt	6	9	8	18	2	2	0	1	0	1	0	2	0	2	0	5	3	3	3	5	3	1	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:43912755G>A	ENST00000562955.1	+	65	9031	c.9031G>A	c.(9031-9033)Ggc>Agc	p.G3011S	SZT2_ENST00000372442.1_Missense_Mutation_p.G2169S|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3068					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGCGGCACGGCTACCACCT	0.607																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6505-6507)Ggc>Agc		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							131	91	105					1																	43912755		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43912755G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9031G>A	1.37:g.43912755G>A	ENSP00000457168:p.Gly3011Ser					SZT2_uc001cjl.2_Missense_Mutation_p.G157S	p.G2169S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			64	9115	+			3068					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.6505G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287352	0.80803	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	L	0.40543	1.245	0.42205	D	0.991786	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73672	-0.3909	9	0.49607	T	0.09	.	19.6025	0.95569	0.0:0.0:1.0:0.0	.	3068;3011	Q5T011;Q5T011-5	SZT2_HUMAN;.	S	2169	.	ENSP00000361519:G2169S	G	+	1	0	SZT2	43685342	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	9.613000	0.98350	2.708000	0.92522	0.655000	0.94253	GGC		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43912755	G	A	43912755	3	1	103	1	0	0	0	0	1	0	0	0	8178	1116	39	2	6699	2	KIAA0467	1	43912755	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	3987844	43912755	205337866	5	6995											
JUN	3725	broad.mit.edu	37	chr1	59248392	59248392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgtgcagttcggccagGgcgcgcacgaagccctcggc	5	6	16	14	5	0	0	0	0	0	0	2	1	0	0	2	4	2	4	2	4	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:59248392G>A	ENST00000371222.2	-	1	1393	c.351C>T	c.(349-351)gcC>gcT	p.A117A	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	117					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GTTCGGCCAGGGCGCGCACGA	0.697			A		sarcoma																																	uc001cze.3				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(349-351)gcC>gcT		Homo sapiens jun proto-oncogene (JUN), mRNA.	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						42	45	44					1																	59248392		2196	4286	6482	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248392G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.351C>T	1.37:g.59248392G>A						LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	p.A117A	NM_002228	NP_002219	P05412	JUN_HUMAN			0	1394	-	all_cancers(7;8.55e-07)		117					Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.351C>T	CCDS610.1																																																																																				0.697	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		A	59248392	G	A	59248392	2	1	103	1	0	0	0	0	0	0	0	1	7969	1219	43	3		3	JUN	1	59248392	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	15335637	59248392	190002229	6	6996											
CTSS	1520	broad.mit.edu	37	chr1	150730364	150730364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggttcatgcccagatcGtatgagtgcattcccattga	9	12	11	9	1	1	3	1	2	0	1	3	3	2	3	2	2	2	3	2	2	1	4	rs139535421		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:150730364G>A	ENST00000368985.3	-	3	479	c.219C>T	c.(217-219)taC>taT	p.Y73Y	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.Y73Y	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	73					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCAGATCGTATGAGTGCA	0.428																																						uc001evn.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(217-219)taC>taT		Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	125	108	114		219,219	-5.1	0	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTSS	NM_001199739.1,NM_004079.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	73/282,73/332	150730364	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150730364G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.219C>T	1.37:g.150730364G>A						CTSS_uc010pcj.2_Silent_p.Y73Y	p.Y73Y	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		2	480	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		73					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.219C>T	CCDS968.1																																																																																				0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		A	150730364	G	A	150730364	2	1	103	1	0	0	0	0	0	0	0	1	4041	1140	40	1		1	CTSS	1	150730364	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	91481972	150730364	98520257	7	6997											
FLG	2312	broad.mit.edu	37	chr1	152285059	152285059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgctgatggtgaccaGcctgtccatggcctgacact	6	10	12	13	0	1	3	0	3	1	0	2	3	2	3	4	3	2	2	4	3	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:152285059G>A	ENST00000368799.1	-	3	2338	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	768	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACCAGCCTGTCCATG	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2302-2304)gCt>gTt		Homo sapiens filaggrin (FLG), mRNA.							361	339	347					1																	152285059		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285059G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2303C>T	1.37:g.152285059G>A	ENSP00000357789:p.Ala768Val					AK056431_uc001ezv.3_5'Flank	p.A768V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2339	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		768			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2303C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.938	0.965168	0.18583	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.81	2.81	0.32909	.	.	.	.	.	T	0.00936	0.0031	M	0.78223	2.4	0.09310	N	1	P	0.41232	0.743	B	0.28991	0.097	T	0.45833	-0.9234	9	0.36615	T	0.2	.	8.9131	0.35565	0.0:0.0:1.0:0.0	.	768	P20930	FILA_HUMAN	V	768	ENSP00000357789:A768V	ENSP00000357789:A768V	A	-	2	0	FLG	150551683	0.010000	0.17322	0.002000	0.10522	0.012000	0.07955	1.677000	0.37576	1.418000	0.47098	0.479000	0.44913	GCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285059	G	A	152285059	3	1	103	1	0	0	0	0	1	0	0	0	5922	971	34	3	9886	3	FLG	1	152285059	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1554695	152285059	96965562	8	6998											
NUF2	83540	broad.mit.edu	37	chr1	163315530	163315530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgcctgccttcatgtcaGttggaagtgcagttatatca	9	13	10	9	0	3	0	3	0	0	0	3	2	3	1	2	1	3	3	2	1	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:163315530G>T	ENST00000271452.3	+	11	1149	c.870G>T	c.(868-870)caG>caT	p.Q290H	NUF2_ENST00000367900.3_Missense_Mutation_p.Q290H|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	290	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358																																						uc001gcq.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(868-870)caG>caT		Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.							102	101	102					1																	163315530		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163315530G>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.870G>T	1.37:g.163315530G>T	ENSP00000271452:p.Gln290His					NUF2_uc001gcr.1_Missense_Mutation_p.Q290H	p.Q290H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			10	1170	+	all_hematologic(923;0.101)		290			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.870G>T	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429770	0.43122	.	.	ENSG00000143228	ENST00000367900;ENST00000271452	T;T	0.33865	1.39;1.39	4.88	0.885	0.19188	.	0.051542	0.85682	D	0.000000	T	0.35828	0.0945	L	0.59436	1.845	0.40113	D	0.976513	D	0.89917	1.0	D	0.85130	0.997	T	0.22208	-1.0223	9	0.52906	T	0.07	-18.352	7.2262	0.26016	0.3739:0.0:0.6261:0.0	.	290	Q9BZD4	NUF2_HUMAN	H	290	ENSP00000356875:Q290H;ENSP00000271452:Q290H	ENSP00000271452:Q290H	Q	+	3	2	NUF2	161582154	0.473000	0.25878	0.425000	0.26659	0.727000	0.41649	0.627000	0.24506	0.270000	0.21984	-0.229000	0.12294	CAG		0.358	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		T	163315530	G	T	163315530	3	4	103	1	0	0	0	0	1	0	0	0	10747	1020	36	5	908	5	NUF2	1	163315530	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	11030471	163315530	85935091	9	6999											
HMCN1	83872	broad.mit.edu	37	chr1	186092310	186092310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgtgcatggcagccaatGtagcaggatcaagcagcaca	14	5	11	11	1	1	0	1	0	0	0	1	1	1	1	1	2	5	6	1	2	3	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:186092310G>A	ENST00000271588.4	+	81	12686	c.12457G>A	c.(12457-12459)Gta>Ata	p.V4153I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4153I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4153	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAGCCAATGTAGCAGGATC	0.498																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12457-12459)Gta>Ata		Homo sapiens hemicentin 1 (HMCN1), mRNA.							58	43	48					1																	186092310		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092310G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12457G>A	1.37:g.186092310G>A	ENSP00000271588:p.Val4153Ile					MIR548F1_uc021pgf.1_Intron	p.V4153I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			80	12686	+			4153			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12457G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	8.189	0.795518	0.16327	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.85	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.378356	0.29480	N	0.012030	T	0.52322	0.1727	N	0.26092	0.79	0.22050	N	0.999399	B	0.33448	0.412	B	0.37198	0.243	T	0.46076	-0.9217	10	0.35671	T	0.21	.	7.5249	0.27650	0.1468:0.1372:0.716:0.0	.	4153	Q96RW7	HMCN1_HUMAN	I	4153	ENSP00000271588:V4153I;ENSP00000356462:V4153I	ENSP00000271588:V4153I	V	+	1	0	HMCN1	184358933	0.008000	0.16893	0.584000	0.28653	0.012000	0.07955	1.104000	0.31074	1.449000	0.47699	0.655000	0.94253	GTA		0.498	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186092310	G	A	186092310	3	1	103	1	0	0	0	0	1	0	0	0	7220	1377	48	3	12779	3	HMCN1	1	186092310	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	22776780	186092310	63158311	10	7000											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200823985	200823985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaacacgggtgataaCgagagtgtacattcaggcaa	13	8	12	8	3	1	3	1	2	0	1	2	4	1	3	0	2	3	3	0	2	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:200823985C>T	ENST00000236925.4	+	15	3946	c.3897C>T	c.(3895-3897)aaC>aaT	p.N1299N	CAMSAP2_ENST00000413307.2_Silent_p.N1272N|CAMSAP2_ENST00000358823.2_Silent_p.N1288N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1299					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CGGGTGATAACGAGAGTGTAC	0.343																																						uc001gvl.3																			0											c.(3895-3897)aaC>aaT		Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.							92	88	89					1																	200823985		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200823985C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3897C>T	1.37:g.200823985C>T						CAMSAP2_uc001gvk.3_Silent_p.N1288N|CAMSAP2_uc001gvm.3_Silent_p.N1272N	p.N1299N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			14	4167	+			1299					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.3897C>T																																																																																					0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		T	200823985	C	T	200823985	2	4	103	1	0	0	0	0	0	0	0	1	2612	535	19	1		1	CAMSAP1L1	1	200823985	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	14731675	200823985	48426636	11	7001											
CHML	1122	broad.mit.edu	37	chr1	241797187	241797187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactacattattggttccagGagcctctggctgcttatcat	8	15	8	10	0	2	0	1	0	1	0	3	1	3	1	2	3	4	3	2	3	4	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:241797187G>A	ENST00000366553.1	-	1	2045	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	628					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.P628S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGGTTCCAGGAGCCTCTGGC	0.418																																						uc001hzd.3																			1	Substitution - Missense(1)	p.P628S(2)	ovary(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1882-1884)Cct>Tct		Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.							148	155	152					1																	241797187		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797187G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1882C>T	1.37:g.241797187G>A	ENSP00000355511:p.Pro628Ser					OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	p.P628S	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		0	2046	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	628					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1882C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.986950	0.02180	.	.	ENSG00000203668	ENST00000366553	D	0.87729	-2.29	4.55	-2.9	0.05648	.	1.182510	0.06378	N	0.714704	T	0.66799	0.2826	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.59408	-0.7460	9	0.02654	T	1	0.241	6.4577	0.21938	0.5583:0.0:0.3099:0.1318	.	628	P26374	RAE2_HUMAN	S	628	ENSP00000355511:P628S	ENSP00000355511:P628S	P	-	1	0	CHML	239863810	0.001000	0.12720	0.016000	0.15963	0.125000	0.20455	-0.591000	0.05753	-0.566000	0.06054	-0.122000	0.15005	CCT		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		A	241797187	G	A	241797187	3	1	103	1	0	0	0	0	1	0	0	0	3351	1174	41	3	92	3	CHML	1	241797187	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	40973202	241797187	7453434	12	7002											
FBLN7	129804	broad.mit.edu	37	chr2	112944813	112944813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttccaacctgaagacGcccatcacgctcttccgcat	8	9	6	18	3	2	2	1	1	1	1	4	2	4	2	5	0	2	2	5	0	2	2	rs140504449		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:112944813G>A	ENST00000331203.2	+	8	1321	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	FBLN7_ENST00000409450.3_Silent_p.T304T|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.T216T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	350					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGAAGACGCCCATCACGC	0.652																																						uc002tho.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1048-1050)acG>acA		Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	93	94	94		912,1050	-10.6	0.3	2	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FBLN7	NM_001128165.1,NM_153214.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	304/394,350/440	112944813	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944813G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1050G>A	2.37:g.112944813G>A						FBLN7_uc010fki.1_Silent_p.T304T|FBLN7_uc010fkj.1_Silent_p.T216T	p.T350T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			7	1321	+			350					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1050G>A	CCDS2095.1																																																																																				0.652	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		A	112944813	G	A	112944813	2	1	103	1	0	0	0	0	0	0	0	1	5701	1074	38	1		1	FBLN7	2	112944813	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		112944813	130254560	13	7003											
XIRP2	129446	broad.mit.edu	37	chr2	168103045	168103045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataggtggtgatgtcaaaCgtaccattcataatttattg	13	15	8	5	1	2	1	2	1	0	0	2	1	2	1	1	2	2	1	1	2	6	8			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:168103045C>T	ENST00000409195.1	+	9	5232	c.5143C>T	c.(5143-5145)Cgt>Tgt	p.R1715C	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1493C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1715C|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1540					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGATGTCAAACGTACCATTCA	0.338																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5143-5145)Cgt>Tgt		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							141	134	136					2																	168103045		1872	4100	5972	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103045C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5143C>T	2.37:g.168103045C>T	ENSP00000386840:p.Arg1715Cys					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1540C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1493C|XIRP2_uc010fpr.3_Intron	p.R1715C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5232	+			1540					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5143C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908041	0.33721	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03212	4.01;4.01;4.01	5.59	3.73	0.42828	.	0.219986	0.45867	D	0.000321	T	0.14270	0.0345	M	0.63428	1.95	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66196	0.877;0.942;0.916	T	0.00260	-1.1869	10	0.62326	D	0.03	-1.1939	15.0392	0.71774	0.0:0.7298:0.2702:0.0	.	1540;1540;1493	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	1715;1715;1493	ENSP00000386840:R1715C;ENSP00000295237:R1715C;ENSP00000387255:R1493C	ENSP00000295237:R1715C	R	+	1	0	XIRP2	167811291	0.037000	0.19845	0.109000	0.21407	0.589000	0.36550	1.120000	0.31271	0.674000	0.31244	-0.172000	0.13284	CGT		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168103045	C	T	168103045	3	4	103	1	0	0	0	0	1	0	0	0	17427	536	19	1	5173	1	XIRP2	2	168103045	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	55158232	168103045	75096328	14	7004											
ABCB11	8647	broad.mit.edu	37	chr2	169814525	169814525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggtgtgactgtcccgttCacagctgcacccacagaccc	9	7	10	15	1	1	2	1	1	0	1	2	2	2	2	3	1	2	3	3	1	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:169814525C>T	ENST00000263817.6	-	19	2416	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	764	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTGTCCCGTTCACAGCTGCAC	0.473																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2290-2292)gtG>gtA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						68	67	68					2																	169814525		1928	4132	6060	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169814525C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2292G>A	2.37:g.169814525C>T						ABCB11_uc010zda.1_Silent_p.V206V|ABCB11_uc010zdb.1_Silent_p.V240V	p.V764V	NM_003742	NP_003733	O95342	ABCBB_HUMAN			18	2418	-			764			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.2292G>A	CCDS46444.1																																																																																				0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		T	169814525	C	T	169814525	2	4	103	1	0	0	0	0	0	0	0	1	42	813	29	3		3	ABCB11	2	169814525	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	1711480	169814525	73384848	15	7005											
TRAK2	66008	broad.mit.edu	37	chr2	202272228	202272229	+	Frame_Shift_Del	DEL	AG	AG	-																															gtcttgattttcatatagaaAgagagtgtctacttttagcc																										TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:202272228_202272229delAG	ENST00000332624.3	-	3	611_612	c.183_184delCT	c.(181-186)ctctttfs	p.F62fs	TRAK2_ENST00000430254.1_Frame_Shift_Del_p.F62fs	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	62	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCATATAGAAAGAGAGTGTCTA	0.46																																						uc002uyb.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(181-186)ctctttfs		Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.																																				SO:0001589	frameshift_variant	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272228_202272229delAG	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.183_184delCT	2.37:g.202272232_202272233delAG	ENSP00000328875:p.Phe62fs					TRAK2_uc002uyc.2_Frame_Shift_Del_p.L61fs	p.L61fs	NM_015049	NP_055864	O60296	TRAK2_HUMAN			2	629_630	-			61					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Frame_Shift_Del	DEL	ENST00000332624.3	37	c.183_184delCT	CCDS2347.1																																																																																				0.46	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		-	202272229	AG	-	202272228	7	5	103	1	0	1	0	1	0	0	0	0	16447	72	3	0	2616	0	TRAK2	2	202272228	Frame_Shift_Del	DEL	AG	TCGA-06-6694-01A-12D-1845-08	32457703	202272228	40927145	16	7006											
DES	1674	broad.mit.edu	37	chr2	220286194	220286194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagatggcccgccatctgCgcgagtaccaggacctgctc	8	7	12	14	3	1	1	0	1	1	1	2	4	1	2	4	2	3	2	4	2	1	1	rs369765867		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:220286194C>T	ENST00000373960.3	+	6	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	386	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCATCTGCGCGAGTACCA	0.622																																						uc002vll.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(1156-1158)Cgc>Tgc		Homo sapiens desmin (DES), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	66	62	64		1156	5.1	1	2		64	0,8600		0,0,4300	no	missense	DES	NM_001927.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	386/471	220286194	1,13005	2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286194C>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1156C>T	2.37:g.220286194C>T	ENSP00000363071:p.Arg386Cys						p.R386C	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	5	1242	+		Renal(207;0.0183)	386			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1156C>T	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312880	0.81358	2.27E-4	0.0	ENSG00000175084	ENST00000373960	D	0.90004	-2.6	5.12	5.12	0.69794	Filament (1);	0.000000	0.49916	D	0.000131	D	0.95217	0.8449	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.95733	0.8776	10	0.87932	D	0	.	18.3699	0.90403	0.0:1.0:0.0:0.0	.	386	P17661	DESM_HUMAN	C	386	ENSP00000363071:R386C	ENSP00000363071:R386C	R	+	1	0	DES	219994438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.646000	0.89796	0.655000	0.94253	CGC		0.622	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		T	220286194	C	T	220286194	3	4	103	1	0	0	0	0	1	0	0	0	4449	768	27	1	1178	1	DES	2	220286194	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	18013966	220286194	22913179	17	7007											
SETD5	55209	broad.mit.edu	37	chr3	9489393	9489393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgctgcagaaaaactagtCcccaagccacctccagcaaa	15	6	6	14	0	0	1	0	0	0	1	2	1	2	1	5	0	5	3	5	0	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:9489393C>T	ENST00000406341.1	+	14	1996	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Silent_p.V504V|SETD5_ENST00000402198.1_Silent_p.V602V|SETD5_ENST00000402466.1_Silent_p.V504V|SETD5_ENST00000407969.1_Silent_p.V621V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	602										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAAACTAGTCCCCAAGCCAC	0.468																																						uc003brt.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1804-1806)gtC>gtT		Homo sapiens SET domain containing 5 (SETD5), mRNA.							92	95	94					3																	9489393		1881	4117	5998	SO:0001819	synonymous_variant	55209							g.chr3:9489393C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1806C>T	3.37:g.9489393C>T						SETD5_uc003brs.1_Silent_p.V583V|SETD5_uc003bru.3_Silent_p.V504V|SETD5_uc003brv.3_Silent_p.V491V|SETD5_uc010hck.3_Silent_p.V84V|SETD5_uc003brx.3_Silent_p.V271V	p.V602V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	14	2241	+	Medulloblastoma(99;0.227)		602					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.1806C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	7.279	0.608743	0.14066	.	.	ENSG00000168137	ENST00000399686	.	.	.	5.69	1.47	0.22746	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41858	-0.9485	4	.	.	.	-1.5246	6.044	0.19750	0.0:0.4482:0.219:0.3328	.	.	.	.	S	270	.	.	P	+	1	0	SETD5	9464393	0.001000	0.12720	0.998000	0.56505	0.941000	0.58515	-0.028000	0.12350	0.228000	0.21019	0.655000	0.94253	CCC		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		T	9489393	C	T	9489393	2	4	103	1	0	0	0	0	0	0	0	1	14134	842	30	3		3	SETD5	3	9489393	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		9489393	188533037	18	7008											
FAM19A4	151647	broad.mit.edu	37	chr3	68929927	68929927	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggacatcagcttacaGcacaccattaacacgtaggc	13	6	10	12	2	1	0	1	0	0	0	1	2	1	1	1	3	4	3	1	3	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:68929927G>T	ENST00000295569.7	-	3	576	c.84C>A	c.(82-84)tgC>tgA	p.C28*	RNA5SP135_ENST00000517019.1_RNA	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	28						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCAGCTTACAGCACACCATTA	0.512																																						uc021xag.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10						c.(82-84)tgC>tgA		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.							98	90	93					3																	68929927		2203	4300	6503	SO:0001587	stop_gained	151647					extracellular region		g.chr3:68929927G>T	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.84C>A	3.37:g.68929927G>T	ENSP00000295569:p.Cys28*					FAM19A4_uc021xah.1_Nonsense_Mutation_p.C28*|5S_rRNA_uc021xai.1_5'Flank	p.C28*	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	2	577	-		Lung NSC(201;0.0198)	28					A8MVT2	Nonsense_Mutation	SNP	ENST00000295569.7	37	c.84C>A	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	G	39	7.710657	0.98447	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.08	5.08	0.68730	.	0.226622	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4263	18.4864	0.90831	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000295569:C28X	C	-	3	2	FAM19A4	69012617	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.370000	0.59517	2.355000	0.79922	0.591000	0.81541	TGC		0.512	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		T	68929927	G	T	68929927	4	4	103	1	0	0	0	0	0	1	0	0	5534	963	34	5	354	5	FAM19A4	3	68929927	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	59440534	68929927	129092503	19	7009											
CEP97	79598	broad.mit.edu	37	chr3	101476715	101476715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacctacagttgagctgaGgctgcagggcattaacttgg	10	10	12	9	0	1	2	1	2	0	0	1	2	1	2	1	3	4	5	1	3	2	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:101476715G>T	ENST00000341893.3	+	9	2017	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	CEP97_ENST00000327230.4_Missense_Mutation_p.R422M|CEP97_ENST00000494050.1_Missense_Mutation_p.R363M			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	422	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTGAGCTGAGGCTGCAGGGC	0.473																																						uc003dvk.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1264-1266)aGg>aTg		Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.							110	101	104					3																	101476715		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476715G>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1265G>T	3.37:g.101476715G>T	ENSP00000342510:p.Arg422Met					CEP97_uc010hpm.1_Missense_Mutation_p.R388M|CEP97_uc011bhf.1_Missense_Mutation_p.R363M|CEP97_uc003dvl.1_Missense_Mutation_p.R118M|CEP97_uc003dvm.1_Missense_Mutation_p.R260M	p.R422M	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			8	1292	+			422			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1265G>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742504	0.49151	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.59638	0.49;0.5;0.25	5.37	4.49	0.54785	.	0.134965	0.51477	D	0.000097	T	0.62380	0.2423	L	0.53249	1.67	0.36721	D	0.88116	D;D;P	0.57571	0.98;0.979;0.951	P;P;P	0.53593	0.635;0.73;0.541	T	0.69394	-0.5157	10	0.49607	T	0.09	-4.2638	11.1849	0.48650	0.1634:0.0:0.8366:0.0	.	363;422;422	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	M	422;422;363	ENSP00000342510:R422M;ENSP00000325881:R422M;ENSP00000418185:R363M	ENSP00000325881:R422M	R	+	2	0	CEP97	102959405	1.000000	0.71417	0.989000	0.46669	0.368000	0.29767	3.185000	0.50934	1.234000	0.43709	0.305000	0.20034	AGG		0.473	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		T	101476715	G	T	101476715	3	4	103	1	0	0	0	0	1	0	0	0	3263	1000	35	5	1299	5	CEP97	3	101476715	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	32546788	101476715	96545715	20	7010											
SPON2	10417	broad.mit.edu	37	chr4	1165082	1165082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgcacctccagctccGccgacgtctgcccggtgccg	3	7	12	19	6	1	0	0	0	1	0	3	1	3	0	6	1	5	3	6	1	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:1165082G>T	ENST00000290902.5	-	3	745	c.413C>A	c.(412-414)gCg>gAg	p.A138E	SPON2_ENST00000431380.1_Missense_Mutation_p.A138E	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	138	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTCCAGCTCCGCCGACGTCTG	0.786																																						uc003gco.4																			0		p.A138A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(412-414)gCg>gAg		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.							4	5	4					4																	1165082		1712	3542	5254	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165082G>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.413C>A	4.37:g.1165082G>T	ENSP00000290902:p.Ala138Glu					SPON2_uc021xkj.1_Missense_Mutation_p.A138E|SPON2_uc010ibr.3_Missense_Mutation_p.A138E|SPON2_uc003gcm.1_Missense_Mutation_p.A56E	p.A138E	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	2	742	-			138			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.413C>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911409	0.72983	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.51325	0.71;0.71	4.59	3.74	0.42951	Spondin, N-terminal (2);	0.508381	0.23142	N	0.051455	T	0.58637	0.2136	L	0.57536	1.79	0.24118	N	0.995812	D;D;D	0.58970	0.984;0.97;0.966	P;P;P	0.58577	0.671;0.572;0.841	T	0.53012	-0.8498	10	0.72032	D	0.01	.	12.0703	0.53611	0.0864:0.0:0.9136:0.0	.	138;138;2	D3DVN9;Q9BUD6;Q9H7I1	.;SPON2_HUMAN;.	E	138	ENSP00000290902:A138E;ENSP00000394832:A138E	ENSP00000290902:A138E	A	-	2	0	SPON2	1155082	0.992000	0.36948	0.046000	0.18839	0.923000	0.55619	7.151000	0.77411	0.914000	0.36822	0.511000	0.50034	GCG		0.786	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1165082	G	T	1165082	3	4	103	1	0	0	0	0	1	0	0	0	15082	1087	38	5	598	5	SPON2	4	1165082	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		1165082	189989194	21	7011											
HELQ	113510	broad.mit.edu	37	chr4	84368060	84368060	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttcaccaagctatgtccTttttcaatagtggcaatata	12	14	7	8	0	2	0	2	0	0	0	3	1	3	0	2	1	1	3	2	1	7	7			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:84368060T>C	ENST00000295488.3	-	4	1482	c.1320A>G	c.(1318-1320)aaA>aaG	p.K440K	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	440	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGCTATGTCCTTTTTCAATAG	0.373								Other identified genes with known or suspected DNA repair function																														uc003hom.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1318-1320)aaA>aaG	Other identified genes with known or suspected DNA repair function	Homo sapiens helicase, POLQ-like (HELQ), mRNA.							136	130	132					4																	84368060		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84368060T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1320A>G	4.37:g.84368060T>C						HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	p.K440K	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			3	1499	-			440			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.1320A>G	CCDS3603.1																																																																																				0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		C	84368060	T	C	84368060	2	2	103	1	0	0	0	0	0	0	0	1	7047	1606	56	4		4	HELQ	4	84368060	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	83202978	84368060	106786216	22	7012											
BMPR1B	658	broad.mit.edu	37	chr4	96075770	96075770	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaggctgacagccctGcgggttaagaaaacacttgc	12	7	11	11	1	1	2	1	1	0	1	1	2	1	2	1	2	4	3	1	2	4	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:96075770G>C	ENST00000515059.1	+	13	1738	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	BMPR1B_ENST00000394931.1_Silent_p.L485L|BMPR1B_ENST00000440890.2_Silent_p.L515L|BMPR1B_ENST00000264568.4_Silent_p.L485L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	485	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACAGCCCTGCGGGTTAAGA	0.448																																						uc003htm.4																			0		p.A484T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1453-1455)ctG>ctC		Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.							72	75	74					4																	96075770		2203	4300	6503	SO:0001819	synonymous_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96075770G>C	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1455G>C	4.37:g.96075770G>C						BMPR1B_uc010ilb.3_Silent_p.L485L|BMPR1B_uc003htn.4_Silent_p.L485L	p.L485L	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	12	1729	+		Hepatocellular(203;0.114)	485			Protein kinase.		B2R953|B4DSV1|P78366	Silent	SNP	ENST00000515059.1	37	c.1455G>C	CCDS3642.1																																																																																				0.448	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		C	96075770	G	C	96075770	2	2	103	1	0	0	0	0	0	0	0	1	1470	1306	46	5		5	BMPR1B	4	96075770	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	11707710	96075770	95078506	23	7013											
DKK2	27123	broad.mit.edu	37	chr4	107845338	107845338	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgcagtctgatgatcGtaggcaggggtctccttcat	8	13	11	9	1	4	2	2	2	2	0	6	2	4	2	1	3	1	3	1	3	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:107845338G>A	ENST00000285311.3	-	4	1258	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DKK2_ENST00000513208.1_Nonsense_Mutation_p.R85*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.R139*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	185	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGATGATCGTAGGCAGGGG	0.448																																						uc003hyi.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(553-555)Cga>Tga		Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.							87	83	84					4																	107845338		2203	4300	6503	SO:0001587	stop_gained	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845338G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.553C>T	4.37:g.107845338G>A	ENSP00000285311:p.Arg185*					DKK2_uc003hyj.1_3'UTR	p.R185*	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	3	1258	-		Hepatocellular(203;0.217)	185			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Nonsense_Mutation	SNP	ENST00000285311.3	37	c.553C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258659	0.95368	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	.	.	.	5.64	2.8	0.32819	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2292	14.9299	0.70906	0.0:0.0:0.5138:0.4862	.	.	.	.	X	185;85;139	.	ENSP00000285311:R185X	R	-	1	2	DKK2	108064787	0.997000	0.39634	0.639000	0.29394	0.993000	0.82548	2.477000	0.45180	0.686000	0.31488	0.585000	0.79938	CGA		0.448	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			A	107845338	G	A	107845338	4	1	103	1	0	0	0	0	0	1	0	0	4545	1153	40	1	230	1	DKK2	4	107845338	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	11769568	107845338	83308938	24	7014											
ZFR	51663	broad.mit.edu	37	chr5	32390482	32390482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatctggcattcggcggcGatcatcccaatgatgttgtt	7	13	10	11	3	2	1	1	1	1	0	5	2	4	1	2	3	0	3	2	3	1	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:32390482G>A	ENST00000265069.8	-	12	2143	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	681					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTCGGCGGCGATCATCCCAA	0.507																																						uc003jhr.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2041-2043)Cgc>Tgc		Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.							149	143	145					5																	32390482		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390482G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2041C>T	5.37:g.32390482G>A	ENSP00000265069:p.Arg681Cys					ZFR_uc011cny.1_5'Flank	p.R681C	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	11	2121	-			681					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2041C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947266	0.53186	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05855	3.38	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.00154	-1.1981	10	0.41790	T	0.15	.	13.2874	0.60251	0.0:0.0:0.7151:0.2849	.	681	Q96KR1	ZFR_HUMAN	C	681;659	ENSP00000265069:R681C	ENSP00000265069:R681C	R	-	1	0	ZFR	32426239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.717000	0.61923	2.550000	0.86006	0.561000	0.74099	CGC		0.507	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			A	32390482	G	A	32390482	3	1	103	1	0	0	0	0	1	0	0	0	17656	1058	37	2	1219	2	ZFR	5	32390482	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		32390482	148524778	25	7015											
CARTPT	9607	broad.mit.edu	37	chr5	71015195	71015195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctacctctgttgggtacCcgtgcccaggaggacgccga	7	8	13	13	3	1	0	0	0	1	0	1	3	1	2	4	3	4	3	4	3	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:71015195C>T	ENST00000296777.4	+	1	206	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	25					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TGTTGGGTACCCGTGCCCAGG	0.657																																						uc003kbv.2																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(73-75)acC>acT		Homo sapiens CART prepropeptide (CARTPT), mRNA.	Amphetamine(DB00182)						65	64	65					5																	71015195		2203	4300	6503	SO:0001819	synonymous_variant	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015195C>T	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"cocaine and amphetamine regulated transcript"	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.75C>T	5.37:g.71015195C>T							p.T25T	NM_004291	NP_004282	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	0	206	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	25					Q6FG92	Silent	SNP	ENST00000296777.4	37	c.75C>T	CCDS4011.1																																																																																				0.657	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		T	71015195	C	T	71015195	2	4	103	1	0	0	0	0	0	0	0	1	2659	610	22	3		3	CARTPT	5	71015195	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	38624713	71015195	109900065	26	7016											
GCNT4	51301	broad.mit.edu	37	chr5	74325583	74325583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctccaagtcaatgatgtCccttcttcttatttccagac	9	15	4	13	0	3	2	1	1	2	1	7	2	7	2	4	0	0	0	4	0	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:74325583C>A	ENST00000322348.4	-	1	1141	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	94					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403																																						uc003kdn.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(280-282)Gac>Tac		Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.							172	162	166					5																	74325583		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325583C>A	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.280G>T	5.37:g.74325583C>A	ENSP00000317027:p.Asp94Tyr						p.D94Y	NM_016591	NP_057675	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	0	1142	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	94						Missense_Mutation	SNP	ENST00000322348.4	37	c.280G>T	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	9.583	1.124112	0.20959	.	.	ENSG00000176928	ENST00000322348	T	0.43294	0.95	6.14	3.31	0.37934	.	1.859620	0.02066	N	0.051132	T	0.34366	0.0895	L	0.38175	1.15	0.09310	N	1	B	0.23854	0.092	B	0.21360	0.034	T	0.19353	-1.0308	10	0.15066	T	0.55	-9.0173	6.9017	0.24286	0.0:0.5537:0.2944:0.1519	.	94	Q9P109	GCNT4_HUMAN	Y	94	ENSP00000317027:D94Y	ENSP00000317027:D94Y	D	-	1	0	GCNT4	74361339	0.012000	0.17670	0.085000	0.20634	0.978000	0.69477	0.979000	0.29500	0.418000	0.25898	0.650000	0.86243	GAC		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		A	74325583	C	A	74325583	3	1	103	1	0	0	0	0	1	0	0	0	6303	855	30	5	1085	5	GCNT4	5	74325583	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	3310388	74325583	106589677	27	7017											
SLC36A2	153201	broad.mit.edu	37	chr5	150704898	150704898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgtcatctccaaacCgcaggtagcccagagccgcc	9	7	9	16	2	2	2	1	1	1	1	3	2	2	2	6	1	3	2	6	1	2	2	rs199803602		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:150704898C>T	ENST00000335244.4	-	8	1088	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	SLC36A2_ENST00000521967.1_Missense_Mutation_p.R320Q|SLC36A2_ENST00000450886.1_Missense_Mutation_p.R44Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	320					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ATCTCCAAACCGCAGGTAGCC	0.532																																						uc003lty.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(958-960)cGg>cAg		Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.							87	70	76					5																	150704898		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150704898C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.959G>A	5.37:g.150704898C>T	ENSP00000334223:p.Arg320Gln					SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.R122Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.R320Q	p.R320Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1089	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	320					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.959G>A	CCDS4315.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	12.25|12.25	1.882079|1.882079	0.33255|0.33255	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000523044|ENST00000335244;ENST00000450886;ENST00000521967	.|T;T;T	.|0.02216	.|4.39;4.39;4.39	4.69|4.69	1.21|1.21	0.21127|0.21127	.|.	.|0.354681	.|0.32473	.|N	.|0.006052	T|T	0.01940|0.01940	0.0061|0.0061	N|N	0.25890|0.25890	0.77|0.77	0.35391|0.35391	D|D	0.790757|0.790757	.|B;B	.|0.21225	.|0.018;0.053	.|B;B	.|0.16289	.|0.015;0.015	T|T	0.48328|0.48328	-0.9045|-0.9045	5|10	.|0.37606	.|T	.|0.19	-6.204|-6.204	10.6339|10.6339	0.45554|0.45554	0.0:0.7516:0.0:0.2484|0.0:0.7516:0.0:0.2484	.|.	.|320;320	.|E5RJJ5;Q495M3	.|.;S36A2_HUMAN	S|Q	73|320;44;320	.|ENSP00000334223:R320Q;ENSP00000399479:R44Q;ENSP00000430535:R320Q	.|ENSP00000334223:R320Q	G|R	-|-	1|2	0|0	SLC36A2|SLC36A2	150685091|150685091	1.000000|1.000000	0.71417|0.71417	0.742000|0.742000	0.31022|0.31022	0.535000|0.535000	0.34838|0.34838	3.628000|3.628000	0.54259|0.54259	0.251000|0.251000	0.21505|0.21505	0.313000|0.313000	0.20887|0.20887	GGT|CGG		0.532	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			T	150704898	C	T	150704898	3	4	103	1	0	0	0	0	1	0	0	0	14594	652	23	2	504	2	SLC36A2	5	150704898	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	76379315	150704898	30210362	28	7018											
IL12B	3593	broad.mit.edu	37	chr5	158743808	158743808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggctgaggtcttgtccGtgaagactctatctttctgc	5	14	11	11	2	4	3	0	2	4	1	5	3	5	3	2	2	1	1	2	2	2	3	rs367828574		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:158743808G>A	ENST00000231228.2	-	7	1327	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	291	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTGTCCGTGAAGACTCT	0.512											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lxr.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(871-873)aCg>aTg		Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.		G	MET/THR	0,4406		0,0,2203	91	84	86		872	-9.3	0	5		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL12B	NM_002187.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	291/329	158743808	1,13005	2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158743808G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.872C>T	5.37:g.158743808G>A	ENSP00000231228:p.Thr291Met		OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1796	RNU4ATAC_uc021ygw.1_5'Flank	p.T291M	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	914	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	291			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000231228.2	37	c.872C>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433719	0.25813	0.0	1.16E-4	ENSG00000113302	ENST00000231228	T	0.19394	2.15	6.03	-9.31	0.00646	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.689060	0.02849	N	0.128902	T	0.13200	0.0320	L	0.28400	0.85	0.09310	N	1	B	0.20164	0.042	B	0.06405	0.002	T	0.12218	-1.0556	10	0.34782	T	0.22	-4.1081	9.3552	0.38161	0.2671:0.0:0.5421:0.1908	.	291	P29460	IL12B_HUMAN	M	291	ENSP00000231228:T291M	ENSP00000231228:T291M	T	-	2	0	IL12B	158676386	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.861000	0.04268	-1.684000	0.01443	-0.905000	0.02835	ACG		0.512	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		A	158743808	G	A	158743808	3	1	103	1	0	0	0	0	1	0	0	0	7625	1145	40	1	118	1	IL12B	5	158743808	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	8038910	158743808	22171452	29	7019											
FOXF2	2295	broad.mit.edu	37	chr6	1391312	1391312	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcctcctactcgctggAgcagagctacttgcaccaga	9	9	9	14	1	0	2	0	0	0	2	3	3	2	3	3	1	5	4	3	1	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:1391312A>G	ENST00000259806.1	+	1	1244	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	377					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TACTCGCTGGAGCAGAGCTAC	0.682																																						uc003mtm.3																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1129-1131)gAg>gGg		Homo sapiens forkhead box F2 (FOXF2), mRNA.							16	16	16					6																	1391312		2170	4255	6425	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391312A>G	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1130A>G	6.37:g.1391312A>G	ENSP00000259806:p.Glu377Gly						p.E377G	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	0	1244	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	377					Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.1130A>G	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033174	0.75504	.	.	ENSG00000137273	ENST00000259806	D	0.93859	-3.3	4.58	4.58	0.56647	.	0.327612	0.27504	N	0.019064	D	0.86577	0.5966	L	0.52364	1.645	0.58432	D	0.999999	B	0.27765	0.188	B	0.24974	0.057	D	0.86685	0.1919	10	0.49607	T	0.09	.	12.9552	0.58424	1.0:0.0:0.0:0.0	.	377	Q12947	FOXF2_HUMAN	G	377	ENSP00000259806:E377G	ENSP00000259806:E377G	E	+	2	0	FOXF2	1336311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	1.926000	0.55796	0.459000	0.35465	GAG		0.682	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			G	1391312	A	G	1391312	3	3	103	1	0	0	0	0	1	0	0	0	6006	304	11	4	1132	4	FOXF2	6	1391312	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08		1391312	169723755	30	7020											
TFAP2A	7020	broad.mit.edu	37	chr6	10410393	10410393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtaggggtcgttgacgtggGagtaaggatcttgcgactgg	7	11	18	5	3	1	1	0	1	1	0	2	4	1	3	0	5	1	3	0	5	2	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:10410393G>A	ENST00000482890.1	-	3	573	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TFAP2A_ENST00000319516.4_Missense_Mutation_p.S70F|TFAP2A_ENST00000379613.3_Missense_Mutation_p.S76F|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S68F|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S74F			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	74	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGACGTGGGAGTAAGGATC	0.682																																						uc003myr.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(220-222)tCc>tTc		Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.							50	58	55					6																	10410393		2203	4299	6502	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410393G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.221C>T	6.37:g.10410393G>A	ENSP00000418541:p.Ser74Phe					TFAP2A_uc003myq.3_Missense_Mutation_p.S68F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Missense_Mutation_p.S74F|TFAP2A_uc003myt.3_Missense_Mutation_p.S70F|TFAP2A_uc003myu.1_Missense_Mutation_p.S74F|TFAP2A_uc011dii.1_Missense_Mutation_p.S70F|LOC100130275_uc003myw.3_5'Flank	p.S74F	NM_003220	NP_003211	P05549	AP2A_HUMAN			1	473	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	74			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.221C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625634	0.87560	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000465858	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	M	0.73217	2.22	0.80722	D	1	D;D;D;D;P;P;P	0.76494	0.999;0.976;0.976;0.99;0.877;0.877;0.929	D;P;P;D;P;P;P	0.66196	0.942;0.726;0.714;0.909;0.548;0.548;0.812	D	0.88959	0.3392	10	0.54805	T	0.06	-8.9079	18.1709	0.89745	0.0:0.0:1.0:0.0	.	76;74;74;76;70;74;68	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6	.;.;.;.;.;AP2A_HUMAN;.	F	76;74;70;68;74;74;119	ENSP00000368933:S76F;ENSP00000368924:S74F;ENSP00000316516:S70F;ENSP00000368928:S68F;ENSP00000418541:S74F;ENSP00000417495:S74F;ENSP00000418391:S119F	ENSP00000316516:S70F	S	-	2	0	TFAP2A	10518379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.863000	0.99569	2.273000	0.75805	0.585000	0.79938	TCC		0.682	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		A	10410393	G	A	10410393	3	1	103	1	0	0	0	0	1	0	0	0	15784	1174	41	3	1116	3	TFAP2A	6	10410393	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	9019081	10410393	160704674	31	7021											
BAI3	577	broad.mit.edu	37	chr6	70042889	70042889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctagataaaaagctcaaAcacagagccgggtaagctgc	16	6	9	10	1	1	2	1	0	0	2	2	2	2	2	2	1	5	3	2	1	6	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:70042889A>G	ENST00000370598.1	+	24	3998	c.3177A>G	c.(3175-3177)aaA>aaG	p.K1059K	BAI3_ENST00000238918.8_Silent_p.K265K|BAI3_ENST00000546190.1_Silent_p.K23K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1059					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGCTCAAACACAGAGCCG	0.398																																						uc010kak.3																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3175-3177)aaA>aaG		Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.							95	96	96					6																	70042889		2203	4299	6502	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70042889A>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3177A>G	6.37:g.70042889A>G						BAI3_uc003pev.4_Silent_p.K1059K|BAI3_uc011dxx.2_Silent_p.K265K	p.K1059K	NM_001704	NP_001695	O60242	BAI3_HUMAN			22	3453	+		all_lung(197;0.212)	1059					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3177A>G	CCDS4968.1																																																																																				0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			G	70042889	A	G	70042889	2	3	103	1	0	0	0	0	0	0	0	1	1300	40	2	4		4	BAI3	6	70042889	Silent	SNP	A	TCGA-06-6694-01A-12D-1845-08	59632496	70042889	101072178	32	7022											
CDK19	23097	broad.mit.edu	37	chr6	110959910	110959910	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaggatatttgctggtttCtagaaataaaaatagagcat	16	13	8	4	0	1	2	0	0	1	2	1	3	1	3	0	2	2	3	0	2	8	7			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:110959910C>T	ENST00000368911.3	-	5	636		c.e5-1		CDK19_ENST00000323817.3_Splice_Site|CDK19_ENST00000413605.2_Splice_Site	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGCTGGTTTCTAGAAATAAA	0.289																																						uc003puh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.e5-1		Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.							86	94	92					6																	110959910		2203	4295	6498	SO:0001630	splice_region_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110959910C>T	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.457-1G>A	6.37:g.110959910C>T						CDK19_uc003pui.1_Splice_Site_p.K93_splice|CDK19_uc011eax.1_Splice_Site_p.K29_splice	p.K153_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			5	530	-			153			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Splice_Site	SNP	ENST00000368911.3	37	c.457_splice	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486303	0.84854	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK19	111066603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.894000	0.99253	0.591000	0.81541	.		0.289	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	Intron	T	110959910	C	T	110959910	5	4	103	1	0	0	0	0	0	0	1	0	3135	927	32	3	1088	3	CDK19	6	110959910	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	40917021	110959910	60155157	33	7023											
C6orf170	221322	broad.mit.edu	37	chr6	121560260	121560260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atccactggagtagttctggGatgggttaccctaacatcat	10	12	10	9	0	2	0	1	0	1	0	3	2	3	2	2	3	2	3	2	3	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:121560260G>A	ENST00000398212.2	-	20	2369	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	TBC1D32_ENST00000398197.2_5'Flank|TBC1D32_ENST00000275159.6_Missense_Mutation_p.P774S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	774					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GTAGTTCTGGGATGGGTTACC	0.333																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(2320-2322)Ccc>Tcc		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.							142	141	141					6																	121560260		1818	4073	5891	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121560260G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2320C>T	6.37:g.121560260G>A	ENSP00000381270:p.Pro774Ser					C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Missense_Mutation_p.P293S	p.P774S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	19	2388	-			774					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2320C>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756077	0.69648	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.28069	1.63;1.63	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.55724	-0.8096	10	0.72032	D	0.01	.	18.3872	0.90470	0.0:0.0:1.0:0.0	.	774;774	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	S	774	ENSP00000275159:P774S;ENSP00000381270:P774S	ENSP00000275159:P774S	P	-	1	0	C6orf170	121601959	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.277000	0.89896	2.510000	0.84645	0.460000	0.39030	CCC		0.333	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		A	121560260	G	A	121560260	3	1	103	1	0	0	0	0	1	0	0	0	2344	1174	41	3	1505	3	C6orf170	6	121560260	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	10600350	121560260	49554807	34	7024											
LPA	4018	broad.mit.edu	37	chr6	160998167	160998167	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttttaatcaaatacataCgcatttgggtagttttctgg	10	17	9	5	1	2	0	1	0	1	0	2	0	2	0	0	3	2	4	0	3	5	8	rs200099994	byFrequency	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:160998167C>T	ENST00000316300.5	-	28	4676		c.e28+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATACATACGCATTTGGGT	0.433													C|||	2	0.000399361	0	0	5008	,	,		16726	0.002		0	False		,,,				2504	0					uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e29+1		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)	C		2,4260		0,2,2129	164	170	168			2.5	1	6		168	1,8565		0,1,4282	yes	splice-5	LPA	NM_005577.2		0,3,6411	TT,TC,CC		0.0117,0.0469,0.0234			160998167	3,12825	2131	4283	6414	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998167C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4631+1G>A	6.37:g.160998167C>T							p.A1544_splice	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4751	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4052			Kringle 14.		Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37	c.4631_splice	CCDS43523.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.233	0.805036	0.16467	4.69E-4	1.17E-4	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5946	0.33707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160918157	1.000000	0.71417	0.991000	0.47740	0.146000	0.21551	3.469000	0.53093	1.410000	0.46936	0.430000	0.28490	.		0.433	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Intron	T	160998167	C	T	160998167	5	4	103	1	0	0	0	0	0	0	1	0	8903	550	19	1	1538	1	LPA	6	160998167	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	39437907	160998167	10116900	35	7025											
SLC29A4	222962	broad.mit.edu	37	chr7	5331368	5331368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctttttatcagcatctgcGacgtgtggctgcagctcttc	5	15	9	12	2	3	0	1	0	2	0	5	1	4	0	1	1	4	4	1	1	1	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:5331368G>A	ENST00000396872.3	+	5	621	c.460G>A	c.(460-462)Gac>Aac	p.D154N	SLC29A4_ENST00000297195.4_Missense_Mutation_p.D154N|SLC29A4_ENST00000406453.3_Silent_p.A141A			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	154					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CAGCATCTGCGACGTGTGGCT	0.647																																						uc003sod.3																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(460-462)Gac>Aac		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							76	72	73					7																	5331368		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5331368G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.460G>A	7.37:g.5331368G>A	ENSP00000380081:p.Asp154Asn					SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.D154N|SLC29A4_uc003soe.3_Silent_p.A141A	p.D154N	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	4	621	+		Ovarian(82;0.0175)	154					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.460G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764006	0.69878	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000297195	T;T;T	0.32272	1.46;1.46;1.46	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.84846	2.72	0.80722	D	1	P	0.39003	0.654	B	0.37833	0.259	T	0.51639	-0.8680	10	0.49607	T	0.09	-0.5537	15.189	0.73028	0.0:0.0:1.0:0.0	.	154	Q7RTT9	S29A4_HUMAN	N	154	ENSP00000406803:D154N;ENSP00000380081:D154N;ENSP00000297195:D154N	ENSP00000297195:D154N	D	+	1	0	SLC29A4	5297894	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	9.304000	0.96190	2.005000	0.58758	0.511000	0.50034	GAC		0.647	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		A	5331368	G	A	5331368	3	1	103	1	0	0	0	0	1	0	0	0	14537	1058	37	2	474	2	SLC29A4	7	5331368	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		5331368	153807295	36	7026											
GRM3	2913	broad.mit.edu	37	chr7	86468659	86468659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacccttggtcaaagcatCgggccgagaactctgctaca	11	7	9	14	2	2	1	1	0	1	1	3	2	2	1	2	2	4	2	2	2	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:86468659C>T	ENST00000361669.2	+	4	2928	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.S202L|GRM3_ENST00000536043.1_Missense_Mutation_p.S482L|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	610					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S610L(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTCAAAGCATCGGGCCGAGAA	0.468																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			2	Substitution - Missense(2)	p.S610L(4)	lung(1)|skin(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1828-1830)tCg>tTg		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						207	158	175					7																	86468659		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468659C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1829C>T	7.37:g.86468659C>T	ENSP00000355316:p.Ser610Leu					GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.S482L|GRM3_uc010leh.3_Missense_Mutation_p.S202L	p.S610L	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2928	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		610					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1829C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588360	0.86851	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89939	-2.59;-2.59;-2.59	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.983;0.99	D	0.96404	0.9299	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	202;482;610	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	L	610;202;482	ENSP00000355316:S610L;ENSP00000444064:S202L;ENSP00000441407:S482L	ENSP00000355316:S610L	S	+	2	0	GRM3	86306595	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.026000	0.70873	2.941000	0.99782	0.655000	0.94253	TCG		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86468659	C	T	86468659	3	4	103	1	0	0	0	0	1	0	0	0	6798	893	31	2	1839	2	GRM3	7	86468659	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	81137291	86468659	72670004	37	7027											
TECPR1	25851	broad.mit.edu	37	chr7	97858368	97858368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccttggaagcagccgcctCcatagccgcctgtgtatacc	8	8	9	16	2	0	0	0	0	0	0	1	1	1	1	7	1	4	2	7	1	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:97858368C>T	ENST00000447648.2	-	16	2692	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E	TECPR1_ENST00000379795.3_Missense_Mutation_p.G799E|TECPR1_ENST00000542604.1_Missense_Mutation_p.G728E|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	798					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCCGCCTCCATAGCCGCC	0.677																																						uc003upg.3																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2392-2394)gGa>gAa		Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.							14	18	17					7																	97858368		1928	4104	6032	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97858368C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2393G>A	7.37:g.97858368C>T	ENSP00000404923:p.Gly798Glu					TECPR1_uc003uph.1_Missense_Mutation_p.G728E	p.G798E	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			15	2598	-			798					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2393G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650731	0.87958	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.52983	0.88;0.88;0.64	5.27	5.27	0.74061	.	0.053281	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79475	2.455	0.58432	D	0.999991	D;D	0.63880	0.993;0.958	D;P	0.67900	0.954;0.642	T	0.73745	-0.3886	10	0.72032	D	0.01	-19.6088	17.9306	0.88996	0.0:1.0:0.0:0.0	.	728;798	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	E	798;799;728	ENSP00000404923:G798E;ENSP00000369121:G799E;ENSP00000441121:G728E	ENSP00000369121:G799E	G	-	2	0	TECPR1	97696304	0.999000	0.42202	0.977000	0.42913	0.546000	0.35178	5.980000	0.70516	2.463000	0.83235	0.650000	0.86243	GGA		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		T	97858368	C	T	97858368	3	4	103	1	0	0	0	0	1	0	0	0	15740	855	30	3	1148	3	TECPR1	7	97858368	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	11389709	97858368	61280295	38	7028											
CYP3A4	1576	broad.mit.edu	37	chr7	99359709	99359709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtactttgggtcaCggtgaagagcatagcttgga	9	11	13	8	1	1	2	1	1	0	1	2	3	2	3	1	3	3	3	1	3	3	4	rs372231982		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:99359709C>T	ENST00000336411.2	-	11	1391	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CYP3A4_ENST00000354593.2_Missense_Mutation_p.R253H	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	403					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CTTTGGGTCACGGTGAAGAGC	0.507																																						uc003urv.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1207-1209)cGt>cAt		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						221	201	208					7																	99359709		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359709C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1208G>A	7.37:g.99359709C>T	ENSP00000337915:p.Arg403His					CYP3A4_uc003urw.2_Missense_Mutation_p.R402H|CYP3A4_uc011kiz.2_Missense_Mutation_p.R362H	p.R403H	NM_017460	NP_059488	P08684	CP3A4_HUMAN			10	1315	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		403					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1208G>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.789964	0.00623	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.72942	-0.7;-0.7	4.35	-2.46	0.06461	.	0.723568	0.12523	N	0.461500	T	0.43144	0.1234	N	0.16037	0.36	0.09310	N	1	B;B;B;B;B	0.17038	0.02;0.004;0.009;0.009;0.009	B;B;B;B;B	0.19148	0.024;0.016;0.016;0.016;0.016	T	0.32561	-0.9902	10	0.07325	T	0.83	.	6.0636	0.19852	0.1217:0.4584:0.0:0.42	.	253;330;403;403;403	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	H	253;403	ENSP00000346607:R253H;ENSP00000337915:R403H	ENSP00000337915:R403H	R	-	2	0	CYP3A4	99197645	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.140000	0.03210	-1.178000	0.02741	-1.318000	0.01297	CGT		0.507	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			T	99359709	C	T	99359709	3	4	103	1	0	0	0	0	1	0	0	0	4178	536	19	1	315	1	CYP3A4	7	99359709	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1501341	99359709	59778954	39	7029											
ACHE	43	broad.mit.edu	37	chr7	100490909	100490909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagcacgtgccattcGtggttcaccaggacctgcgc	7	8	13	13	3	1	1	1	1	0	0	2	2	1	2	3	3	3	3	3	3	0	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100490909G>A	ENST00000412389.1	-	1	1100	c.945C>T	c.(943-945)caC>caT	p.H315H	ACHE_ENST00000428317.1_Silent_p.H315H|ACHE_ENST00000302913.4_Silent_p.H315H|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Silent_p.H315H|ACHE_ENST00000411582.1_Silent_p.H315H|ACHE_ENST00000241069.5_Silent_p.H315H			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	315					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CGTGCCATTCGTGGTTCACCA	0.607																																						uc003uxd.3																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(943-945)caC>caT		Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						99	73	82					7																	100490909		2203	4300	6503	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490909G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.945C>T	7.37:g.100490909G>A						ACHE_uc003uxe.3_Silent_p.H315H|ACHE_uc003uxf.3_Silent_p.H315H|ACHE_uc003uxg.3_Silent_p.H315H|ACHE_uc003uxh.3_Silent_p.H315H|ACHE_uc003uxi.3_Silent_p.H315H|ACHE_uc003uxj.1_Silent_p.H434H	p.H315H	NM_000665	NP_000656	P22303	ACES_HUMAN			0	1101	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		315					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.945C>T	CCDS5709.1																																																																																				0.607	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		A	100490909	G	A	100490909	2	1	103	1	0	0	0	0	0	0	0	1	141	1136	40	1		1	ACHE	7	100490909	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	1131200	100490909	58647754	40	7030											
MUC17	140453	broad.mit.edu	37	chr7	100692247	100692247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcaaacagacattcacGgaacaggtaagtctgggaga	15	7	12	7	1	3	2	2	0	1	2	3	5	3	3	0	3	2	2	0	3	3	3	rs200175178		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100692247G>A	ENST00000306151.4	+	5	12721	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4219	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507													G|||	1	0.000199681	0	0	5008	,	,		18356	0.001		0	False		,,,				2504	0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12655-12657)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	74	66	68		12657	-8.8	0	7		68	0,8600		0,0,4300	no	coding-synonymous	MUC17	NM_001040105.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		4219/4494	100692247	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100692247G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12657G>A	7.37:g.100692247G>A						MUC17_uc010lho.1_Non-coding_Transcript	p.T4219T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			4	12710	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4219			SEA.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12657G>A	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100692247	G	A	100692247	2	1	103	1	0	0	0	0	0	0	0	1	9974	1103	39	2		2	MUC17	7	100692247	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	201338	100692247	58446416	41	7031											
EPHB6	2051	broad.mit.edu	37	chr7	142561409	142561409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgctggacaccaccGgagagacatctgagattggc	11	8	13	9	1	1	2	0	1	1	2	1	6	1	4	2	4	1	2	2	4	1	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:142561409G>A	ENST00000392957.2	+	6	908	c.121G>A	c.(121-123)Gga>Aga	p.G41R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G41R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	41	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATC	0.597																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(121-123)Gga>Aga		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							77	75	76					7																	142561409		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561409G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.121G>A	7.37:g.142561409G>A	ENSP00000376684:p.Gly41Arg					EPHB6_uc011ksu.2_Missense_Mutation_p.G41R|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	p.G41R	NM_004445	NP_004436	O15197	EPHB6_HUMAN			5	908	+	Melanoma(164;0.059)		41					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.121G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585542	0.46110	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03468	3.92;3.92	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43579	D	0.000552	T	0.09818	0.0241	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.20706	-1.0267	10	0.31617	T	0.26	.	10.4381	0.44448	0.0:0.1436:0.7079:0.1485	.	41	O15197	EPHB6_HUMAN	R	41	ENSP00000376684:G41R;ENSP00000410789:G41R	ENSP00000376684:G41R	G	+	1	0	EPHB6	142271531	0.946000	0.32159	0.968000	0.41197	0.982000	0.71751	1.592000	0.36676	2.506000	0.84524	0.557000	0.71058	GGA		0.597	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142561409	G	A	142561409	3	1	103	1	0	0	0	0	1	0	0	0	5178	1117	39	2	127	2	EPHB6	7	142561409	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	41869162	142561409	16577254	42	7032											
OR2A12	346525	broad.mit.edu	37	chr7	143792982	143792982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtcatgtacatggcccCcaagtcaagccattctcaag	11	10	7	13	0	3	0	3	0	1	0	4	0	3	0	3	1	2	1	3	1	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:143792982C>A	ENST00000408949.2	+	1	842	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCAAGC	0.547																																						uc011kty.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(781-783)cCc>cAc		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							159	154	155					7																	143792982		1910	4138	6048	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792982C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.782C>A	7.37:g.143792982C>A	ENSP00000386174:p.Pro261His						p.P261H	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	782	+	Melanoma(164;0.0783)		261					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.782C>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215430	0.22373	.	.	ENSG00000221858	ENST00000408949	T	0.00272	8.36	4.33	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	M	0.91090	3.175	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.35025	-0.9805	9	0.87932	D	0	-27.9967	8.6269	0.33895	0.0:0.8091:0.0:0.1909	.	261	Q8NGT7	O2A12_HUMAN	H	261	ENSP00000386174:P261H	ENSP00000386174:P261H	P	+	2	0	OR2A12	143423915	0.001000	0.12720	0.023000	0.16930	0.004000	0.04260	0.678000	0.25277	0.473000	0.27368	0.505000	0.49811	CCC		0.547	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			A	143792982	C	A	143792982	3	1	103	1	0	0	0	0	1	0	0	0	10975	623	22	5	784	5	OR2A12	7	143792982	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1231573	143792982	15345681	43	7033											
DLC1	10395	broad.mit.edu	37	chr8	12952344	12952344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatctcgaaaatactgcttCagcatgtctgccacgtcata	12	11	7	11	2	4	1	2	0	2	1	5	2	4	1	1	0	4	2	1	0	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:12952344C>T	ENST00000276297.4	-	12	3859	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.L639L|DLC1_ENST00000358919.2_Silent_p.L713L|DLC1_ENST00000512044.2_Silent_p.L747L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1150	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATACTGCTTCAGCATGTCTG	0.468																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3448-3450)ctG>ctA		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							102	96	98					8																	12952344		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952344C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3450G>A	8.37:g.12952344C>T						DLC1_uc003wwk.1_Silent_p.L713L|DLC1_uc003wwl.1_Silent_p.L747L|DLC1_uc011kxx.1_Silent_p.L639L	p.L1150L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			11	3894	-			1150			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3450G>A	CCDS5989.1																																																																																				0.468	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12952344	C	T	12952344	2	4	103	1	0	0	0	0	0	0	0	1	4550	813	29	3		3	DLC1	8	12952344	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		12952344	133411678	44	7034											
TUSC3	7991	broad.mit.edu	37	chr8	15531274	15531274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtatagtctttgctatgActtctggccagatgtggaac	9	14	11	7	0	2	2	0	1	2	1	2	3	2	3	1	2	2	2	1	2	4	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:15531274A>G	ENST00000503731.1	+	6	875	c.727A>G	c.(727-729)Act>Gct	p.T243A	TUSC3_ENST00000509380.1_Missense_Mutation_p.T243A|TUSC3_ENST00000382020.4_Missense_Mutation_p.T243A|TUSC3_ENST00000506802.1_Missense_Mutation_p.T243A|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	243					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTGCTATGACTTCTGGCCA	0.383																																						uc003wwt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(727-729)Act>Gct		Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.							162	134	144					8																	15531274		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15531274A>G	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.727A>G	8.37:g.15531274A>G	ENSP00000424544:p.Thr243Ala					TUSC3_uc003wwu.3_Missense_Mutation_p.T243A	p.T243A	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	5	1071	+			243					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.727A>G	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496231	0.85069	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	M	0.81802	2.56	0.49299	D	0.999773	P;D;D;D;D;D	0.69078	0.932;0.997;0.974;0.974;0.997;0.997	D;D;D;P;D;D	0.79108	0.926;0.973;0.969;0.771;0.973;0.992	D	0.87559	0.2470	10	0.44086	T	0.13	-24.5179	13.5247	0.61589	1.0:0.0:0.0:0.0	.	243;243;243;243;243;243	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	A	243	ENSP00000371450:T243A;ENSP00000425777:T243A;ENSP00000423426:T243A;ENSP00000424544:T243A	ENSP00000221167:T243A	T	+	1	0	TUSC3	15575645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.474000	0.90413	2.234000	0.73211	0.533000	0.62120	ACT		0.383	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		G	15531274	A	G	15531274	3	3	103	1	0	0	0	0	1	0	0	0	16775	275	10	4	749	4	TUSC3	8	15531274	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	2578930	15531274	130832748	45	7035											
SFTPC	649	broad.mit.edu	37	chr8	22020640	22020640	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcccagcaacgcctggcCctgagtgagcacctggttac	9	6	12	14	1	0	2	0	2	0	0	0	3	0	2	4	2	5	3	4	2	3	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:22020640C>T	ENST00000306385.5	+	0	0				BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000437090.2_Silent_p.A83A|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_Silent_p.A83A|SFTPC_ENST00000521315.1_Silent_p.A83A|SFTPC_ENST00000520605.1_Silent_p.A30A|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000318561.3_Silent_p.A83A|SFTPC_ENST00000524255.1_Silent_p.A30A|BMP1_ENST00000397816.3_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AACGCCTGGCCCTGAGTGAGC	0.617																																						uc003xaw.4																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(394-396)gcC>gcT		Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.							88	99	96					8																	22020640		2111	4220	6331	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020640C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020640C>T	Exception_encountered					SFTPC_uc003xax.4_Silent_p.A83A|SFTPC_uc003xay.4_Silent_p.A83A|SFTPC_uc003xaz.3_Silent_p.A83A|SFTPC_uc011kza.1_Silent_p.A83A|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	p.A132A	NM_001172357	NP_001165828	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	1099	+			83			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.396C>T	CCDS6026.1																																																																																				0.617	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		T	22020640	C	T	22020640	1	4	103	0	1	0	0	0	0	0	0	0	14192	610	22	3		3	SFTPC	8	22020640	5'Flank	SNP	C	TCGA-06-6694-01A-12D-1845-08	6489366	22020640	124343382	46	7036											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256489	24256489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagcaccacgtttgacAacttcctgagatggcacagt	11	8	10	12	2	0	2	0	2	0	1	1	3	1	2	2	1	2	4	2	1	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:24256489A>G	ENST00000256412.4	+	9	1085	c.865A>G	c.(865-867)Aac>Gac	p.N289D	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.N210D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N210D	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	289	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACGTTTGACAACTTCCTGAG	0.488																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(865-867)Aac>Gac		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							115	103	107					8																	24256489		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24256489A>G	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.865A>G	8.37:g.24256489A>G	ENSP00000256412:p.Asn289Asp					ADAMDEC1_uc010lub.2_Missense_Mutation_p.N210D|ADAMDEC1_uc011lab.1_Missense_Mutation_p.N210D	p.N289D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	8	1085	+		Prostate(55;0.0181)	289			Peptidase M12B.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.865A>G	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	A	8.808	0.934516	0.18206	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.63580	-0.05;-0.05;-0.05	5.88	3.42	0.39159	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.545614	0.18993	N	0.125549	T	0.72953	0.3525	M	0.69185	2.1	0.09310	N	1	P	0.46952	0.887	P	0.60609	0.877	T	0.63314	-0.6665	10	0.54805	T	0.06	-15.5669	10.4288	0.44395	0.6865:0.3135:0.0:0.0	.	289	O15204	ADEC1_HUMAN	D	289;210;210	ENSP00000256412:N289D;ENSP00000442592:N210D;ENSP00000428993:N210D	ENSP00000256412:N289D	N	+	1	0	ADAMDEC1	24312434	0.000000	0.05858	0.053000	0.19242	0.014000	0.08584	0.970000	0.29383	0.436000	0.26393	-0.316000	0.08728	AAC		0.488	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		G	24256489	A	G	24256489	3	3	103	1	0	0	0	0	1	0	0	0	254	130	5	4	899	4	ADAMDEC1	8	24256489	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	2235849	24256489	122107533	47	7037											
JAK2	3717	broad.mit.edu	37	chr9	5080558	5080558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattttatgaagataggcAtcagcttcctgcaccaaagt	14	11	7	9	0	1	2	1	1	0	1	2	2	2	2	2	1	2	3	2	1	5	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:5080558A>T	ENST00000381652.3	+	18	2803	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L	JAK2_ENST00000539801.1_Missense_Mutation_p.H770L|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Missense_Mutation_p.H621L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	770	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAAGATAGGCATCAGCTTCCT	0.358		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													uc010mhm.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2308-2310)cAt>cTt		Homo sapiens Janus kinase 2 (JAK2), mRNA.							69	73	72					9																	5080558		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5080558A>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2309A>T	9.37:g.5080558A>T	ENSP00000371067:p.His770Leu					JAK2_uc003ziw.3_Missense_Mutation_p.H770L	p.H770L	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	16	2422	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	770			Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2309A>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064129	0.55432	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.82167	-1.58;-1.58;-1.58	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	N	0.17872	0.535	0.80722	D	1	B	0.26400	0.148	B	0.32724	0.151	T	0.69053	-0.5247	10	0.10902	T	0.67	-14.6698	16.4323	0.83853	1.0:0.0:0.0:0.0	.	770	O60674	JAK2_HUMAN	L	770;770;621	ENSP00000440387:H770L;ENSP00000371067:H770L;ENSP00000443103:H621L	ENSP00000371067:H770L	H	+	2	0	JAK2	5070558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.830000	0.69324	2.281000	0.76405	0.528000	0.53228	CAT		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5080558	A	T	5080558	3	4	103	1	0	0	0	0	1	0	0	0	7938	217	8	5	2371	5	JAK2	9	5080558	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08		5080558	136132873	48	7038											
FAM120A	23196	broad.mit.edu	37	chr9	96289441	96289441	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattttatgtttagccatAtcagcgggaacaagattggc	11	14	9	7	1	2	1	2	0	0	1	2	2	2	2	1	2	3	1	1	2	5	7			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:96289441A>C	ENST00000277165.6	+	8	1617	c.1423A>C	c.(1423-1425)Atc>Ctc	p.I475L	FAM120A_ENST00000340893.4_Missense_Mutation_p.I475L|FAM120A_ENST00000333936.5_Missense_Mutation_p.I503L|FAM120A_ENST00000375389.3_Missense_Mutation_p.I475L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	475						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTAGCCATATCAGCGGGAA	0.463																																						uc004atw.3																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1423-1425)Atc>Ctc		Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.							72	73	73					9																	96289441		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96289441A>C	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1423A>C	9.37:g.96289441A>C	ENSP00000277165:p.Ile475Leu					FAM120A_uc004atv.3_Missense_Mutation_p.I475L|FAM120A_uc004atx.3_Missense_Mutation_p.I257L|FAM120A_uc004aty.3_Missense_Mutation_p.I256L|FAM120A_uc004atz.3_Missense_Mutation_p.I124L|FAM120A_uc010mrf.1_Non-coding_Transcript	p.I475L	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			7	1448	+			475					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.1423A>C	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830802	0.50845	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.74	2.12	0.27331	.	0.177448	0.38605	N	0.001625	T	0.23210	0.0561	N	0.11560	0.145	0.29699	N	0.840357	B;B;B;B;B	0.19583	0.006;0.0;0.006;0.006;0.037	B;B;B;B;B	0.21151	0.014;0.001;0.006;0.008;0.033	T	0.14035	-1.0487	10	0.21014	T	0.42	-9.9289	6.3829	0.21544	0.4404:0.0:0.5596:0.0	.	475;503;475;475;475	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;.;F120A_HUMAN;.	L	475;475;503;475	ENSP00000364538:I475L;ENSP00000277165:I475L;ENSP00000334918:I503L;ENSP00000344698:I475L	ENSP00000277165:I475L	I	+	1	0	FAM120A	95329262	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.086000	0.30853	0.459000	0.27016	0.482000	0.46254	ATC		0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		C	96289441	A	C	96289441	3	2	103	1	0	0	0	0	1	0	0	0	5415	449	16	5	1453	5	FAM120A	9	96289441	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	91208883	96289441	44923990	49	7039											
ZNF169	169841	broad.mit.edu	37	chr9	97063382	97063382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcagaggaggagctttaCgtagacagggtgtgtggaca	11	8	15	7	1	1	2	1	0	0	2	1	5	1	5	0	4	2	2	0	4	2	3	rs200105094		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:97063382C>T	ENST00000395395.2	+	5	1632	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGAGCTTTACGTAGACAGGG	0.537													T|||	1	0.000199681	0	0	5008	,	,		23412	0		0.001	False		,,,				2504	0					uc022bki.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1543-1545)taC>taT		Homo sapiens zinc finger protein 169 (ZNF169), mRNA.		T		1,4405	826.1+/-416.6	0,1,2202	97	88	91		1542	-1.1	0	9		91	0,8600		0,0,4300	no	coding-synonymous	ZNF169	NM_194320.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		514/604	97063382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063382C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1542C>T	9.37:g.97063382C>T						ZNF169_uc004aum.1_Silent_p.Y514Y	p.Y515Y	NM_194320	NP_919301	Q14929	ZN169_HUMAN			3	1600	+		Acute lymphoblastic leukemia(62;0.136)	514					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1545C>T	CCDS6709.2																																																																																				0.537	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		T	97063382	C	T	97063382	2	4	103	1	0	0	0	0	0	0	0	1	17739	547	19	1		1	ZNF169	9	97063382	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	773941	97063382	44150049	50	7040											
MYOF	26509	broad.mit.edu	37	chr10	95134679	95134679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtatcgagaactgtgacGttggcttttccttctgtgag	7	15	12	7	2	1	4	0	3	1	1	3	5	2	4	1	1	1	3	1	1	2	5	rs372347097		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:95134679G>A	ENST00000359263.4	-	23	2141	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	MYOF_ENST00000358334.5_Silent_p.N701N|MYOF_ENST00000371501.4_Silent_p.N714N|MYOF_ENST00000371502.4_Silent_p.N714N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	714					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAACTGTGACGTTGGCTTTTC	0.448																																						uc001kin.3																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2140-2142)aaC>aaT		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							67	64	65					10																	95134679		1914	4122	6036	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95134679G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2142C>T	10.37:g.95134679G>A						MYOF_uc001kio.3_Silent_p.N701N|MYOF_uc009xue.3_Non-coding_Transcript	p.N714N	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			22	2265	-			714					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.2142C>T	CCDS41551.1																																																																																				0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		A	95134679	G	A	95134679	2	1	103	1	0	0	0	0	0	0	0	1	10089	1136	40	1		1	MYOF	10	95134679	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		95134679	40400068	51	7041											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	9	9	8	15	4	2	0	1	0	1	0	3	3	3	0	5	1	3	1	5	1	3	3	rs147065829		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000368615.3_Silent_p.P325P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						uc010quw.1																			0		p.P325Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(973-975)ccG>ccA		Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138	151	146		975,975,1070,975	-8.8	0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_uc001llf.2_Missense_Mutation_p.R357H|LRRC27_uc010quv.1_Silent_p.P325P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P325P|LRRC27_uc001llj.2_Silent_p.P263P|LRRC27_uc001llk.4_Silent_p.P198P	p.P325P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	1170	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	325					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	ENST00000368614.3	37	c.975G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		A	134165159	G	A	134165159	2	1	103	1	0	0	0	0	0	0	0	1	8981	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	39030480	134165159	1369588	52	7042											
FAM160A2	84067	broad.mit.edu	37	chr11	6239211	6239211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcaggggtaggccgtcgGccagggctggaggcggggga	5	5	22	9	3	1	0	0	0	1	0	2	2	1	2	2	9	1	3	2	9	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:6239211G>A	ENST00000449352.2	-	9	1868	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	FAM160A2_ENST00000524416.1_Silent_p.G535G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.G549G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	535					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCCGTCGGCCAGGGCTGG	0.652																																						uc001mck.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1645-1647)ggC>ggT		Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.							39	40	40					11																	6239211		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6239211G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1605C>T	11.37:g.6239211G>A						FAM160A2_uc001mcl.4_Silent_p.G535G|FAM160A2_uc001mcm.2_Silent_p.G535G	p.G549G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN			8	2006	-			535					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1647C>T	CCDS44530.1																																																																																				0.652	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		A	6239211	G	A	6239211	2	1	103	1	0	0	0	0	0	0	0	1	5469	1190	42	3		3	FAM160A2	11	6239211	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		6239211	128767305	53	7043											
SLC35C1	55343	broad.mit.edu	37	chr11	45827648	45827648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctggccgcctgctgccCtggtgccgtggacttcccca	2	9	12	18	3	1	0	0	0	1	0	2	1	2	1	6	3	3	2	6	3	0	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:45827648C>T	ENST00000314134.3	+	1	1692	c.296C>T	c.(295-297)cCt>cTt	p.P99L	SLC35C1_ENST00000456334.1_Missense_Mutation_p.P86L|SLC35C1_ENST00000442528.2_Missense_Mutation_p.P86L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	99					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCCTGCTGCCCTGGTGCCGTG	0.652																																						uc001nbp.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(295-297)cCt>cTt		Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.							73	62	66					11																	45827648		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827648C>T		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.296C>T	11.37:g.45827648C>T	ENSP00000313318:p.Pro99Leu					SLC35C1_uc001nbo.3_Missense_Mutation_p.P86L|SLC35C1_uc010rgm.2_Missense_Mutation_p.P86L	p.P99L	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	0	1008	+			99					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.296C>T	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756729	0.89843	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.97	3.07	0.35406	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	T	0.69551	-0.5115	10	0.42905	T	0.14	-18.9755	8.1477	0.31121	0.0:0.726:0.1406:0.1334	.	99	Q96A29	FUCT1_HUMAN	L	86;86;99;86;99	ENSP00000412408:P86L;ENSP00000399779:P86L;ENSP00000313318:P99L;ENSP00000432669:P86L	ENSP00000313318:P99L	P	+	2	0	SLC35C1	45784224	1.000000	0.71417	0.937000	0.37676	0.971000	0.66376	5.649000	0.67936	2.313000	0.78055	0.557000	0.71058	CCT		0.652	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		T	45827648	C	T	45827648	3	4	103	1	0	0	0	0	1	0	0	0	14579	681	24	3	298	3	SLC35C1	11	45827648	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	39588437	45827648	89178868	54	7044											
OR4C11	219429	broad.mit.edu	37	chr11	55371296	55371296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaagtgtccatgcaggcaAgtttcaacaagggctgcaaa	13	9	11	8	0	1	0	1	0	0	0	2	0	2	0	1	2	3	6	1	2	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55371296A>T	ENST00000302231.4	-	1	578	c.554T>A	c.(553-555)cTt>cAt	p.L185H		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCAGGCAAGTTTCAACAA	0.398																																						uc010rii.2																			0		p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(553-555)cTt>cAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.							85	69	75					11																	55371296		2177	4010	6187	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371296A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.554T>A	11.37:g.55371296A>T	ENSP00000306651:p.Leu185His						p.L185H	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			0	579	-			185					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.554T>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136439	0.77662	.	.	ENSG00000172188	ENST00000302231	T	0.00411	7.53	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001377	T	0.02047	0.0064	H	0.96805	3.885	0.34086	D	0.660095	D	0.89917	1.0	D	0.97110	1.0	T	0.03576	-1.1023	10	0.87932	D	0	.	12.7832	0.57489	1.0:0.0:0.0:0.0	.	185	Q6IEV9	OR4CB_HUMAN	H	185	ENSP00000306651:L185H	ENSP00000306651:L185H	L	-	2	0	OR4C11	55127872	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	7.551000	0.82182	1.962000	0.57031	0.391000	0.25812	CTT		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		T	55371296	A	T	55371296	3	4	103	1	0	0	0	0	1	0	0	0	11045	72	3	5	380	5	OR4C11	11	55371296	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	9543648	55371296	79635220	55	7045											
OR4P4	81300	broad.mit.edu	37	chr11	55405976	55405976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcataatgatttctatcaCgtgcacccagctcattcacc	11	12	4	14	1	5	1	4	1	1	0	5	1	5	1	2	0	2	2	2	0	2	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55405976C>T	ENST00000314612.2	+	1	143	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTTCTATCACGTGCACCCAG	0.388																																						uc010rij.2																			0		p.T48A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(142-144)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							176	152	161					11																	55405976		2180	4034	6214	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405976C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.143C>T	11.37:g.55405976C>T	ENSP00000324831:p.Thr48Met						p.T48M	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	143	+			48						Missense_Mutation	SNP	ENST00000314612.2	37	c.143C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840944	0.16891	.	.	ENSG00000181927	ENST00000314612	T	0.01084	5.36	5.09	0.536	0.17138	GPCR, rhodopsin-like superfamily (1);	0.417145	0.17977	N	0.155643	T	0.01189	0.0039	L	0.55481	1.735	0.09310	N	1	P	0.35401	0.499	B	0.36504	0.226	T	0.44862	-0.9300	10	0.23891	T	0.37	-3.3823	1.8499	0.03167	0.1403:0.4836:0.1366:0.2395	.	48	Q8NGL7	OR4P4_HUMAN	M	48	ENSP00000324831:T48M	ENSP00000324831:T48M	T	+	2	0	OR4P4	55162552	0.000000	0.05858	0.182000	0.23118	0.428000	0.31595	-3.627000	0.00410	0.565000	0.29255	-0.185000	0.12909	ACG		0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		T	55405976	C	T	55405976	3	4	103	1	0	0	0	0	1	0	0	0	11080	536	19	1	145	1	OR4P4	11	55405976	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	34680	55405976	79600540	56	7046											
OR5M1	390168	broad.mit.edu	37	chr11	56380780	56380780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaaatgtctacaaaggAgaggtggccaaggaagaaat	18	6	12	5	0	1	2	0	0	1	2	1	4	1	3	1	4	2	1	1	4	7	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56380780A>G	ENST00000526538.1	-	1	198	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTACAAAGGAGAGGTGGCCA	0.463																																						uc001nja.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(199-201)Tcc>Ccc		Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.							176	171	172					11																	56380780		1956	4156	6112	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380780A>G	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.199T>C	11.37:g.56380780A>G	ENSP00000435416:p.Ser67Pro					OR8U8_uc001nit.2_Intron	p.S67P	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			0	199	-			67					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.199T>C	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442541	0.43326	.	.	ENSG00000255012	ENST00000526538	T	0.02067	4.47	3.71	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001354	T	0.13372	0.0324	H	0.96460	3.825	0.24499	N	0.994262	D	0.67145	0.996	P	0.62649	0.905	T	0.04991	-1.0913	10	0.72032	D	0.01	-52.5691	5.6496	0.17608	0.5814:0.3212:0.0973:0.0	.	67	Q8NGP8	OR5M1_HUMAN	P	67	ENSP00000435416:S67P	ENSP00000435416:S67P	S	-	1	0	OR5M1	56137356	0.834000	0.29399	0.999000	0.59377	0.871000	0.50021	1.900000	0.39828	0.502000	0.28037	0.232000	0.17820	TCC		0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		G	56380780	A	G	56380780	3	3	103	1	0	0	0	0	1	0	0	0	11172	304	11	4	752	4	OR5M1	11	56380780	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	974804	56380780	78625736	57	7047											
OR5AR1	219493	broad.mit.edu	37	chr11	56431356	56431356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtattttttcctctgcaaCctctcctttgttgacctggg	5	18	7	11	0	2	1	0	1	2	0	4	1	3	1	4	1	2	3	4	1	2	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56431356C>A	ENST00000302969.2	+	1	219	c.195C>A	c.(193-195)aaC>aaA	p.N65K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCTCTGCAACCTCTCCTTTG	0.453																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(193-195)aaC>aaA		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							262	261	261					11																	56431356		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431356C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.195C>A	11.37:g.56431356C>A	ENSP00000302639:p.Asn65Lys					OR8U8_uc001nit.2_Intron	p.N65K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	195	+			65					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.195C>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325960	0.60743	.	.	ENSG00000172459	ENST00000302969	T	0.01947	4.54	5.16	0.189	0.15119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.08891	0.0220	M	0.92691	3.335	0.28234	N	0.925965	D	0.62365	0.991	P	0.53490	0.727	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.3612	0.21429	0.0:0.4948:0.1302:0.375	.	65	Q8NGP9	O5AR1_HUMAN	K	65	ENSP00000302639:N65K	ENSP00000302639:N65K	N	+	3	2	OR5AR1	56187932	0.001000	0.12720	0.998000	0.56505	0.941000	0.58515	-0.101000	0.10973	0.011000	0.14865	0.573000	0.79308	AAC		0.453	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		A	56431356	C	A	56431356	3	1	103	1	0	0	0	0	1	0	0	0	11145	506	18	5	197	5	OR5AR1	11	56431356	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	50576	56431356	78575160	58	7048											
LRP5	4041	broad.mit.edu	37	chr11	68191121	68191121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgggggtggtgctgcgtggGgaccgcgacaagcccagggc	6	5	20	10	3	0	0	0	0	0	0	0	2	0	1	2	6	3	1	2	6	1	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:68191121G>A	ENST00000294304.7	+	14	3298	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1064	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTGCGTGGGGACCGCGACA	0.677																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3190-3192)ggG>ggA		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							81	74	77					11																	68191121		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68191121G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3192G>A	11.37:g.68191121G>A						LRP5_uc009ysg.3_Silent_p.G474G	p.G1064G	NM_002335	NP_002326	O75197	LRP5_HUMAN			13	3267	+			1064			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3192G>A	CCDS8181.1																																																																																				0.677	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68191121	G	A	68191121	2	1	103	1	0	0	0	0	0	0	0	1	8960	1219	43	3		3	LRP5	11	68191121	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	11759765	68191121	66815395	59	7049											
CLPB	81570	broad.mit.edu	37	chr11	72005108	72005108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtgcacattgtagccGtcgaccagcacatctgccac	10	8	8	15	2	1	0	0	0	1	0	2	1	1	0	4	0	4	3	4	0	2	3	rs147296630	byFrequency	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:72005108G>A	ENST00000294053.3	-	16	2006	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	CLPB_ENST00000543042.1_Silent_p.D410D|CLPB_ENST00000437826.2_Silent_p.D566D|CLPB_ENST00000538021.1_Silent_p.D219D|CLPB_ENST00000538039.1_Silent_p.D581D|CLPB_ENST00000340729.5_Silent_p.D552D	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	611					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATTGTAGCCGTCGACCAGCA	0.612																																						uc001osj.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1831-1833)gaC>gaT		Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.		G		0,4400		0,0,2200	103	67	80		1833	-8.7	0.8	11	dbSNP_134	80	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CLPB	NM_030813.3		0,1,6492	AA,AG,GG		0.0116,0.0,0.0077		611/708	72005108	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72005108G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1833C>T	11.37:g.72005108G>A						CLPB_uc010rqx.2_Silent_p.D566D|CLPB_uc010rqy.2_Silent_p.D552D|CLPB_uc001osk.3_Silent_p.D581D|CLPB_uc010rqz.2_Silent_p.D410D|CLPB_uc001osi.3_Silent_p.D219D	p.D611D	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			15	1883	-			611					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	c.1833C>T	CCDS8215.1																																																																																				0.612	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		A	72005108	G	A	72005108	2	1	103	1	0	0	0	0	0	0	0	1	3551	1136	40	1		1	CLPB	11	72005108	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	3813987	72005108	63001408	60	7050											
TMEM25	84866	broad.mit.edu	37	chr11	118403822	118403822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactacccctggctcacCaaccacacggtgcagctgca	11	5	8	17	1	1	1	1	0	0	1	1	1	1	1	4	2	6	4	4	2	3	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:118403822C>T	ENST00000313236.5	+	4	626	c.573C>T	c.(571-573)acC>acT	p.T191T	RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000442938.2_Silent_p.T191T|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000524725.1_Silent_p.T191T|TMEM25_ENST00000359862.4_Silent_p.T191T|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000354284.4_Silent_p.T191T|TMEM25_ENST00000354064.7_Silent_p.T87T|TMEM25_ENST00000411589.2_Silent_p.T191T|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000533102.1_Silent_p.T191T|TMEM25_ENST00000529001.1_3'UTR	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	191						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTGGCTCACCAACCACACGG	0.632																																						uc001ptk.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(571-573)acC>acT		Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.							78	63	68					11																	118403822		2200	4295	6495	SO:0001819	synonymous_variant	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403822C>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.573C>T	11.37:g.118403822C>T						TMEM25_uc010ryd.1_Silent_p.T191T|TMEM25_uc010ryf.2_Intron|TMEM25_uc010rye.2_Silent_p.T191T|TMEM25_uc009zad.3_Silent_p.T191T|TMEM25_uc001pth.3_Silent_p.T191T|TMEM25_uc001pti.3_Silent_p.T87T|TMEM25_uc001ptl.2_Silent_p.T191T|TMEM25_uc001ptm.2_Silent_p.T191T	p.T191T	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	747	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	191					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Silent	SNP	ENST00000313236.5	37	c.573C>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.56|10.56	1.385654|1.385654	0.25031|0.25031	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526973|ENST00000526853	.|.	.|.	.|.	5.97|5.97	5.06|5.06	0.68205|0.68205	.|.	.|.	.|.	.|.	.|.	T|.	0.64360|.	0.2591|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63202|.	-0.6690|.	4|.	.|.	.|.	.|.	-34.9147|-34.9147	12.7617|12.7617	0.57367|0.57367	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	.|.	.|.	.|.	L|X	75|26	.|.	.|.	P|Q	+|+	2|1	0|0	TMEM25|TMEM25	117909032|117909032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.654000|2.654000	0.46699|0.46699	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.632	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		T	118403822	C	T	118403822	2	4	103	1	0	0	0	0	0	0	0	1	16147	581	21	3		3	TMEM25	11	118403822	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	46398714	118403822	16602694	61	7051											
MFSD5	84975	broad.mit.edu	37	chr12	53646716	53646716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaccccctggaagggccTgcagcaatccctccttcctt	8	9	7	17	0	0	0	0	0	0	0	3	1	3	1	6	2	3	2	6	2	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:53646716T>A	ENST00000329548.4	+	2	288	c.97T>A	c.(97-99)Tgc>Agc	p.C33S	MFSD5_ENST00000534842.1_Missense_Mutation_p.C140S	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	33					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGAAGGGCCTGCAGCAATCC	0.572																																						uc001sch.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(418-420)Tgc>Agc		Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.							105	112	110					12																	53646716		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53646716T>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.97T>A	12.37:g.53646716T>A	ENSP00000332624:p.Cys33Ser					MFSD5_uc001sci.2_Missense_Mutation_p.C33S|MFSD5_uc021qye.1_Missense_Mutation_p.C33S	p.C140S	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN			1	565	+			33					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.418T>A	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	T	3.449	-0.112471	0.06881	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.3	4.3	0.51218	.	0.242590	0.31821	N	0.007002	T	0.17704	0.0425	N	0.02011	-0.69	0.37756	D	0.926138	B;B	0.15141	0.003;0.012	B;B	0.17979	0.002;0.02	T	0.17623	-1.0363	9	0.06494	T	0.89	-4.9904	8.9899	0.36017	0.0:0.0:0.1868:0.8132	.	33;140	Q6N075;G3V1N7	MFSD5_HUMAN;.	S	140;140;140;33	.	ENSP00000331231:C140S	C	+	1	0	MFSD5	51932983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.961000	0.40432	1.817000	0.53016	0.459000	0.35465	TGC		0.572	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		A	53646716	T	A	53646716	3	1	103	1	0	0	0	0	1	0	0	0	9534	1580	55	5	424	5	MFSD5	12	53646716	Missense_Mutation	SNP	T	TCGA-06-6694-01A-12D-1845-08		53646716	80205179	62	7052											
SPIC	121599	broad.mit.edu	37	chr12	101880531	101880531	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgccaattaccatgagctAaatcaccatgattgctaaat	15	12	5	9	0	1	2	1	2	0	0	1	2	1	2	3	0	4	2	3	0	7	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:101880531A>G	ENST00000551346.1	+	6	888	c.729A>G	c.(727-729)ctA>ctG	p.L243L	SPIC_ENST00000299272.5_Silent_p.L243L			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	243					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACCATGAGCTAAATCACCATG	0.323																																						uc001tid.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(727-729)ctA>ctG		Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.							43	52	49					12																	101880531		2196	4285	6481	SO:0001819	synonymous_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880531A>G	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.729A>G	12.37:g.101880531A>G						SPIC_uc010svp.2_Silent_p.L243L|SPIC_uc009zua.3_Silent_p.L118L|SPIC_uc021rcq.1_Silent_p.L118L	p.L243L	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			5	888	+			243						Silent	SNP	ENST00000551346.1	37	c.729A>G	CCDS9082.1																																																																																				0.323	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		G	101880531	A	G	101880531	2	3	103	1	0	0	0	0	0	0	0	1	15050	349	13	4		4	SPIC	12	101880531	Silent	SNP	A	TCGA-06-6694-01A-12D-1845-08	48233815	101880531	31971364	63	7053											
CIT	11113	broad.mit.edu	37	chr12	120148180	120148180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcccttcctcggtgccCaccaacaccacctgcaaggg	9	6	9	17	1	0	1	0	0	0	1	2	1	1	1	6	2	4	1	6	2	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:120148180C>T	ENST00000261833.7	-	38	4873	c.4821G>A	c.(4819-4821)gtG>gtA	p.V1607V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.V1649V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1607	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCGGTGCCCACCAACACCA	0.512																																						uc001txj.2																			0		p.N1649S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(4945-4947)gtG>gtA		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							73	71	72					12																	120148180		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120148180C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4821G>A	12.37:g.120148180C>T						CIT_uc001txh.2_Silent_p.V1126V|CIT_uc001txi.2_Silent_p.V1607V	p.V1649V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	38	5003	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1607			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.4947G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399440	0.25291	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.86	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3357	0.11085	0.2091:0.5584:0.1047:0.1278	.	.	.	.	X	1220	.	.	W	-	2	0	CIT	118632563	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.438000	0.21559	0.825000	0.34637	0.655000	0.94253	TGG		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120148180	C	T	120148180	2	4	103	1	0	0	0	0	0	0	0	1	3438	581	21	3		3	CIT	12	120148180	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	18267649	120148180	13703715	64	7054											
OASL	8638	broad.mit.edu	37	chr12	121471350	121471350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacgagagcatcggggActctctgctccatcctcagg	9	8	12	12	2	2	3	1	1	1	2	6	5	4	4	2	3	2	2	2	3	1	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:121471350A>G	ENST00000257570.5	-	2	665	c.395T>C	c.(394-396)gTc>gCc	p.V132A	OASL_ENST00000339275.5_Missense_Mutation_p.V132A	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	132					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCATCGGGGACTCTCTGCTC	0.587																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(394-396)gTc>gCc		Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.							122	104	110					12																	121471350		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121471350A>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.395T>C	12.37:g.121471350A>G	ENSP00000257570:p.Val132Ala					OASL_uc001tzk.1_Missense_Mutation_p.V132A	p.V132A	NM_003733	NP_003724	Q15646	OASL_HUMAN			1	401	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		132					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.395T>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	A	3.767	-0.048498	0.07407	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.08193	3.12;3.12	4.67	2.24	0.28232	.	0.000000	0.35708	N	0.003031	T	0.05318	0.0141	L	0.45051	1.395	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.18871	0.023;0.006	T	0.45716	-0.9242	10	0.02654	T	1	-21.201	4.2082	0.10498	0.7279:0.0:0.0964:0.1757	.	132;132	Q15646-2;Q15646	.;OASL_HUMAN	A	132	ENSP00000257570:V132A;ENSP00000341125:V132A	ENSP00000257570:V132A	V	-	2	0	OASL	119955733	0.000000	0.05858	0.500000	0.27589	0.014000	0.08584	-0.755000	0.04782	0.356000	0.24157	0.459000	0.35465	GTC		0.587	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		G	121471350	A	G	121471350	3	3	103	1	0	0	0	0	1	0	0	0	10802	275	10	4	1169	4	OASL	12	121471350	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	1323170	121471350	12380545	65	7055											
RIMBP2	23504	broad.mit.edu	37	chr12	130927081	130927081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccaggccgatgccGgaatggttgatgaagttctg	7	11	12	11	2	2	2	0	2	2	0	4	4	3	3	4	3	1	2	4	3	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(763-765)tcC>tcT		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							193	179	184					12																	130927081		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927081G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.765C>T	12.37:g.130927081G>A						RIMBP2_uc001uim.3_Silent_p.S163S	p.S255S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	7	981	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	255					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.765C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130927081	G	A	130927081	2	1	103	1	0	0	0	0	0	0	0	1	13363	1103	39	2		2	RIMBP2	12	130927081	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	9455731	130927081	2924814	66	7056											
PABPC3	5042	broad.mit.edu	37	chr13	25671129	25671129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaacaaatttacgttggtCgagctcagaaaaaagtggaa	18	8	10	5	2	1	1	1	0	0	1	2	4	1	2	0	2	3	2	0	2	8	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr13:25671129C>T	ENST00000281589.3	+	1	830	c.793C>T	c.(793-795)Cga>Tga	p.R265*		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	265	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTACGTTGGTCGAGCTCAGAA	0.403																																						uc001upy.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(793-795)Cga>Tga		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							149	135	140					13																	25671129		2203	4300	6503	SO:0001587	stop_gained	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671129C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.793C>T	13.37:g.25671129C>T	ENSP00000281589:p.Arg265*						p.R265*	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	854	+		Lung SC(185;0.0225)|Breast(139;0.0602)	265			RRM 3.		Q8NHV0|Q9H086	Nonsense_Mutation	SNP	ENST00000281589.3	37	c.793C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870043	0.97901	.	.	ENSG00000151846	ENST00000281589	.	.	.	0.875	0.875	0.19130	.	0.000000	0.40385	U	0.001106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	.	.	.	X	265	.	ENSP00000281589:R265X	R	+	1	2	PABPC3	24569129	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	3.630000	0.54273	0.759000	0.33084	0.313000	0.20887	CGA		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671129	C	T	25671129	4	4	103	1	0	0	0	0	0	1	0	0	11365	876	31	2	795	2	PABPC3	13	25671129	Nonsense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		25671129	89498749	67	7057											
OR4M1	441670	broad.mit.edu	37	chr14	20249075	20249075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcccagaggagttagtGatgatctgtagtagtggtct	9	13	12	7	0	2	3	0	2	2	1	3	4	3	4	2	2	0	3	2	2	3	4	rs182710959		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:20249075G>T	ENST00000315957.4	+	1	675	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGTTAGTGATGATCTGTA	0.478																																						uc010tku.2																			0		p.V198L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(592-594)gtG>gtT		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							412	345	368					14																	20249075		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249075G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.594G>T	14.37:g.20249075G>T							p.V198V	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	594	+	all_cancers(95;0.00108)		198					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.594G>T	CCDS32021.1																																																																																				0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			T	20249075	G	T	20249075	2	4	103	1	0	0	0	0	0	0	0	1	11075	1277	45	5		5	OR4M1	14	20249075	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		20249075	87100465	68	7058											
JPH4	84502	broad.mit.edu	37	chr14	24040215	24040215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaggacccctcgaggaCgagcccctcaggaccagcat	10	4	11	16	2	2	0	2	0	0	0	3	5	2	3	5	3	2	2	5	3	0	0	rs144311601		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24040215C>T	ENST00000397118.3	-	6	2627	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	JPH4_ENST00000544177.1_Silent_p.S240S|JPH4_ENST00000356300.4_Silent_p.S575S|AP1G2_ENST00000308724.5_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	575					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.S575S(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGAGGACGAGCCCCTCA	0.687																																						uc001wkq.2																			1	Substitution - coding silent(1)	p.S575S(2)	prostate(1)	endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1723-1725)tcG>tcA		Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	33	35	35		1725,1725	-9.6	0	14	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	JPH4	NM_001146028.1,NM_032452.2	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	575/629,575/629	24040215	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040215C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1725G>A	14.37:g.24040215C>T						AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Silent_p.S240S|JPH4_uc001wkr.2_Silent_p.S575S	p.S575S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	2643	-	all_cancers(95;0.000251)		575					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1725G>A	CCDS9603.1																																																																																				0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		T	24040215	C	T	24040215	2	4	103	1	0	0	0	0	0	0	0	1	7963	523	19	1		1	JPH4	14	24040215	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	3791140	24040215	83309325	69	7059											
IRF9	10379	broad.mit.edu	37	chr14	24635334	24635334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catctcttccaatacagatgGagcaggcctttgcccgatac	10	10	8	13	1	1	1	0	0	1	1	3	3	2	2	3	2	4	1	3	2	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24635334G>A	ENST00000396864.3	+	9	1398	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	IRF9_ENST00000557894.1_Missense_Mutation_p.G311E|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	371					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AATACAGATGGAGCAGGCCTT	0.597																																						uc001wmq.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(1111-1113)Gag>Aag		Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.							60	57	58					14																	24635334		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24635334G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1111G>A	14.37:g.24635334G>A	ENSP00000380073:p.Glu371Lys					RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.E155K	p.E371K	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	8	1931	+			371					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.1111G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736066	0.89482	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94497	-3.44;-3.44	5.02	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.799301	0.10413	U	0.677732	D	0.97188	0.9081	M	0.80422	2.495	0.31358	N	0.681751	D	0.64830	0.994	D	0.64506	0.926	D	0.94932	0.8083	10	0.87932	D	0	-12.9058	15.8875	0.79261	0.0:0.0:1.0:0.0	.	371	Q00978	IRF9_HUMAN	K	371;187	ENSP00000380073:E371K;ENSP00000313529:E187K	ENSP00000313529:E187K	E	+	1	0	IRF9	23705174	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.667000	0.61561	2.607000	0.88179	0.561000	0.74099	GAG		0.597	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			A	24635334	G	A	24635334	3	1	103	1	0	0	0	0	1	0	0	0	7837	1175	41	3	1141	3	IRF9	14	24635334	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	595119	24635334	82714206	70	7060											
FNTB	2342	broad.mit.edu	37	chr14	65520032	65520032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctgatgtgctgccaGtgccctgcgggggggcttct	4	11	14	12	1	1	1	0	1	1	0	2	1	2	1	3	3	5	2	3	3	1	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:65520032G>A	ENST00000246166.2	+	10	1266	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	FNTB_ENST00000447296.2_Silent_p.Q378Q|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.Q379Q|FNTB_ENST00000542227.1_Silent_p.Q298Q	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	344					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGTGCTGCCAGTGCCCTGCGG	0.592																																						uc001xia.3																			0											c.(1030-1032)caG>caA		Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.							39	37	38					14																	65520032		2203	4300	6503	SO:0001819	synonymous_variant	2342				multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding	g.chr14:65520032G>A		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1032G>A	14.37:g.65520032G>A						CHURC1-FNTB_uc010tsl.2_Silent_p.Q405Q|CHURC1-FNTB_uc010tsm.2_Silent_p.Q298Q|MAX_uc001xic.1_Intron|CHURC1-FNTB_uc001xid.3_Silent_p.Q100Q|CHURC1-FNTB_uc010tso.2_Silent_p.Q259Q	p.Q344Q	NM_002028	NP_002019	B4DL54	B4DL54_HUMAN			9	1197	+			378					B2RDX6|B4E1A0	Silent	SNP	ENST00000246166.2	37	c.1032G>A	CCDS9769.1																																																																																				0.592	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		A	65520032	G	A	65520032	2	1	103	1	0	0	0	0	0	0	0	1	5978	1020	36	3		3	FNTB	14	65520032	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	40884698	65520032	41829508	71	7061											
MAP1A	4130	broad.mit.edu	37	chr15	43820051	43820051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccaatccccaagtcCtcctcaccccattcctatgg	9	8	6	18	0	1	1	1	0	0	1	5	1	5	1	8	2	0	0	8	2	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:43820051C>G	ENST00000300231.5	+	4	6830	c.6380C>G	c.(6379-6381)cCt>cGt	p.P2127R	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2127R|MAP1A_ENST00000382031.1_Missense_Mutation_p.P2365R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2127					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCCCCAAGTCCTCCTCACCCC	0.582																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6379-6381)cCt>cGt		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						51	54	53					15																	43820051		1959	4155	6114	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820051C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6380C>G	15.37:g.43820051C>G	ENSP00000300231:p.Pro2127Arg						p.P2127R	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	6847	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2127					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6380C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528021	0.27299	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01998	4.51;4.51;4.51	4.9	4.9	0.64082	.	0.000000	0.33691	N	0.004654	T	0.05914	0.0154	L	0.32530	0.975	0.47862	D	0.999537	D	0.57257	0.979	D	0.63793	0.918	T	0.33954	-0.9848	10	0.62326	D	0.03	-12.17	10.9433	0.47285	0.0:0.9142:0.0:0.0858	.	2127	P78559	MAP1A_HUMAN	R	2365;2127;2127	ENSP00000371462:P2365R;ENSP00000382380:P2127R;ENSP00000300231:P2127R	ENSP00000300231:P2127R	P	+	2	0	MAP1A	41607343	1.000000	0.71417	0.994000	0.49952	0.699000	0.40488	5.393000	0.66279	2.535000	0.85469	0.655000	0.94253	CCT		0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		G	43820051	C	G	43820051	3	3	103	1	0	0	0	0	1	0	0	0	9227	681	24	5	6382	5	MAP1A	15	43820051	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		43820051	58711341	72	7062											
FGF7	2252	broad.mit.edu	37	chr15	49776594	49776594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctaaatggacacacaacGgaggggaaatgtttgttgcc	13	8	12	8	1	0	0	0	0	0	0	0	3	0	3	1	4	3	3	1	4	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:49776594G>A	ENST00000267843.4	+	4	1089	c.478G>A	c.(478-480)Gga>Aga	p.G160R	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	160					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		GACACACAACGGAGGGGAAAT	0.353																																						uc001zxn.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(478-480)Gga>Aga		Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	Palifermin(DB00039)						50	49	49					15																	49776594		2033	3875	5908	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776594G>A	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.478G>A	15.37:g.49776594G>A	ENSP00000267843:p.Gly160Arg					C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	p.G160R	NM_002009	NP_002000	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	3	1007	+		all_lung(180;0.00391)	160					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.478G>A	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253508	0.59212	.	.	ENSG00000140285	ENST00000267843	T	0.68331	-0.32	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84536	0.0636	9	0.59425	D	0.04	.	19.2747	0.94027	0.0:0.0:1.0:0.0	.	160	P21781	FGF7_HUMAN	R	160	ENSP00000267843:G160R	ENSP00000267843:G160R	G	+	1	0	FGF7	47563886	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.766000	0.62279	2.628000	0.89032	0.650000	0.86243	GGA		0.353	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		A	49776594	G	A	49776594	3	1	103	1	0	0	0	0	1	0	0	0	5857	1117	39	2	488	2	FGF7	15	49776594	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	5956543	49776594	52754798	73	7063											
BCL2L10	10017	broad.mit.edu	37	chr15	52404684	52404684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcacggaatccgccatCagcgccaccagctcgaagcg	11	3	12	15	5	1	1	1	0	0	1	3	4	2	2	4	1	4	2	4	1	2	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:52404684C>T	ENST00000561198.1	-	1	281	c.240G>A	c.(238-240)ctG>ctA	p.L80L	BCL2L10_ENST00000260442.3_Silent_p.L80L			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	70					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AATCCGCCATCAGCGCCACCA	0.692																																						uc002abq.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(238-240)ctG>ctA		Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.							13	16	15					15																	52404684		2187	4282	6469	SO:0001819	synonymous_variant	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52404684C>T	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.240G>A	15.37:g.52404684C>T							p.L80L	NM_020396	NP_065129	Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	0	289	-			70					Q3SX80|Q52LQ9|Q8TCS9	Silent	SNP	ENST00000561198.1	37	c.240G>A																																																																																					0.692	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1			T	52404684	C	T	52404684	2	4	103	1	0	0	0	0	0	0	0	1	1368	813	29	3		3	BCL2L10	15	52404684	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	2628090	52404684	50126708	74	7064											
RFX7	64864	broad.mit.edu	37	chr15	56387837	56387837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaatgtggaaccttttGgtccttcttaacactgcctt	7	15	7	12	0	1	1	0	1	1	0	2	2	2	2	4	2	3	0	4	2	3	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:56387837G>T	ENST00000559447.2	-	9	2069	c.1798C>A	c.(1798-1800)Caa>Aaa	p.Q600K	RFX7_ENST00000423270.1_Missense_Mutation_p.Q697K|RFX7_ENST00000317318.6_Missense_Mutation_p.Q697K|RFX7_ENST00000422057.1_Missense_Mutation_p.Q600K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	600					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCTTTTGGTCCTTCTTA	0.453																																						uc010bfn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2089-2091)Caa>Aaa		Homo sapiens regulatory factor X, 7 (RFX7), mRNA.							127	116	120					15																	56387837		1916	4130	6046	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387837G>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1798C>A	15.37:g.56387837G>T	ENSP00000453281:p.Gln600Lys					RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.Q511K	p.Q697K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			8	2089	-			600					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2089C>A		.	.	.	.	.	.	.	.	.	.	G	6.118	0.390064	0.11581	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53857	0.6;0.6;0.6	5.57	4.59	0.56863	.	0.570815	0.17241	N	0.181527	T	0.27798	0.0684	N	0.08118	0	0.26495	N	0.97487	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11036	-1.0604	10	0.08179	T	0.78	-1.7287	10.2228	0.43207	0.0:0.1465:0.702:0.1516	.	600;600	Q2KHR2;C9JU50	RFX7_HUMAN;.	K	600;697;697	ENSP00000387504:Q600K;ENSP00000313299:Q697K;ENSP00000397644:Q697K	ENSP00000313299:Q697K	Q	-	1	0	RFX7	54175129	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.662000	0.61525	2.600000	0.87896	0.655000	0.94253	CAA		0.453	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		T	56387837	G	T	56387837	3	4	103	1	0	0	0	0	1	0	0	0	13268	1357	47	5	2297	5	RFX7	15	56387837	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	3983153	56387837	46143555	75	7065											
RPP25	54913	broad.mit.edu	37	chr15	75248658	75248658	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgacctggtgcaggccCgccaggcggcgcttgaggat	5	6	17	13	5	0	2	0	2	0	0	0	3	0	3	3	5	1	2	3	5	0	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:75248658C>A	ENST00000322177.5	-	1	1147	c.267G>T	c.(265-267)gcG>gcT	p.A89A	RPP25_ENST00000499788.2_Silent_p.A89A	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	89					tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			breast(1)|lung(1)	2						GGTGCAGGCCCGCCAGGCGGC	0.736																																						uc002azj.1																			0				breast(1)|lung(1)	2						c.(265-267)gcG>gcT		Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.							9	13	12					15																	75248658		2168	4239	6407	SO:0001819	synonymous_variant	54913				tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding	g.chr15:75248658C>A	AY034074	CCDS10274.1	15q24.2	2012-05-21	2007-06-26		ENSG00000178718	ENSG00000178718			30361	protein-coding gene	gene with protein product	"RNase P protein subunit p25"		"ribonuclease P 25kDa subunit"			12003489	Standard	NM_017793		Approved	FLJ20374	uc002azj.1	Q9BUL9	OTTHUMG00000142822	ENST00000322177.5:c.267G>T	15.37:g.75248658C>A							p.A89A	NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN			0	1118	-			89					D3DW70|Q9NX88	Silent	SNP	ENST00000322177.5	37	c.267G>T	CCDS10274.1																																																																																				0.736	RPP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286413.1	NM_017793		A	75248658	C	A	75248658	2	1	103	1	0	0	0	0	0	0	0	1	13611	639	23	5		5	RPP25	15	75248658	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	18860821	75248658	27282734	76	7066											
IGF1R	3480	broad.mit.edu	37	chr15	99251218	99251218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacattgtggggaataagccCccaaaggaatgtggggacct	12	8	13	8	0	0	0	0	0	0	0	0	3	0	3	3	5	2	0	3	5	5	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:99251218C>T	ENST00000268035.6	+	2	1133	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_ENST00000558762.1_Silent_p.P174P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	174					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGAATAAGCCCCCAAAGGAAT	0.517																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(520-522)ccC>ccT		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						115	103	107					15																	99251218		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251218C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.522C>T	15.37:g.99251218C>T						IGF1R_uc010urq.2_Silent_p.P174P|IGF1R_uc010bon.3_Silent_p.P174P	p.P174P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		1	572	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		174					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.522C>T	CCDS10378.1																																																																																				0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99251218	C	T	99251218	2	4	103	1	0	0	0	0	0	0	0	1	7571	610	22	3		3	IGF1R	15	99251218	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	24002560	99251218	3280174	77	7067											
TEKT5	146279	broad.mit.edu	37	chr16	10788195	10788195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttcacctcattggccGcgcactccagccgcctcttg	5	9	10	17	3	3	0	2	0	1	0	4	0	4	0	5	2	1	3	5	2	0	3	rs370491307		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:10788195G>A	ENST00000283025.2	-	1	607	c.536C>T	c.(535-537)gCg>gTg	p.A179V	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	179						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCATTGGCCGCGCACTCCAG	0.577																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(535-537)gCg>gTg		Homo sapiens tektin 5 (TEKT5), mRNA.		G	VAL/ALA	0,4394		0,0,2197	139	153	148		536	4.6	0.4	16		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	TEKT5	NM_144674.1	64	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	179/486	10788195	1,12993	2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788195G>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.536C>T	16.37:g.10788195G>A	ENSP00000283025:p.Ala179Val						p.A179V	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			0	608	-			179					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.536C>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012630	0.54468	0.0	1.16E-4	ENSG00000153060	ENST00000283025	T	0.03386	3.95	5.63	4.62	0.57501	.	0.201088	0.34879	N	0.003607	T	0.17450	0.0419	M	0.80422	2.495	0.58432	D	0.999999	D	0.67145	0.996	D	0.66497	0.944	T	0.00104	-1.2058	10	0.62326	D	0.03	-25.0158	14.7687	0.69659	0.0:0.1451:0.8549:0.0	.	179	Q96M29	TEKT5_HUMAN	V	179	ENSP00000283025:A179V	ENSP00000283025:A179V	A	-	2	0	TEKT5	10695696	1.000000	0.71417	0.357000	0.25798	0.006000	0.05464	4.926000	0.63433	2.640000	0.89533	0.650000	0.86243	GCG		0.577	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10788195	G	A	10788195	3	1	103	1	0	0	0	0	1	0	0	0	15753	1087	38	1	949	1	TEKT5	16	10788195	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		10788195	79566558	78	7068											
ITGAM	3684	broad.mit.edu	37	chr16	31286944	31286944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagccgcctcgtgatcaCgtgttccaggtgaataactt	9	11	9	12	3	1	2	1	2	0	0	4	2	3	2	4	1	2	1	4	1	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:31286944C>T	ENST00000287497.8	+	9	1008	c.933C>T	c.(931-933)caC>caT	p.H311H	ITGAM_ENST00000544665.3_Silent_p.H311H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	311	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCGTGATCACGTGTTCCAGG	0.512																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(931-933)caC>caT		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							93	95	95					16																	31286944		2034	4208	6242	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31286944C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.933C>T	16.37:g.31286944C>T						ITGAM_uc002ebq.3_Silent_p.H311H|ITGAM_uc010cam.1_5'UTR	p.H311H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			8	1031	+			311			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.933C>T	CCDS45470.1																																																																																				0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31286944	C	T	31286944	2	4	103	1	0	0	0	0	0	0	0	1	7887	535	19	1		1	ITGAM	16	31286944	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	20498749	31286944	59067809	79	7069											
DULLARD	23399	broad.mit.edu	37	chr17	7154554	7154554	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtaaatgaagaagctcCagagcttggcggcgaaggcc	13	5	15	8	2	0	3	0	1	0	2	1	5	1	3	2	4	2	3	2	4	6	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7154554C>T	ENST00000573600.1	-	2	483	c.62G>A	c.(61-63)tGg>tAg	p.W21*	ELP5_ENST00000396628.2_5'Flank|ELP5_ENST00000574993.1_5'Flank|ELP5_ENST00000356683.2_5'Flank|ELP5_ENST00000354429.2_5'Flank|CTDNEP1_ENST00000574322.1_Nonsense_Mutation_p.W21*|ELP5_ENST00000573657.1_5'Flank|ELP5_ENST00000396627.2_5'Flank|CTDNEP1_ENST00000572043.1_Intron|ELP5_ENST00000574255.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|CTDNEP1_ENST00000318988.6_Nonsense_Mutation_p.W21*			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	21					gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAAGAAGCTCCAGAGCTTGGC	0.692																																						uc002gfd.2																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(61-63)tGg>tAg		Homo sapiens CTD nuclear envelope phosphatase 1 (CTDNEP1), transcript variant 2, mRNA.							24	27	26					17																	7154554		2202	4298	6500	SO:0001587	stop_gained	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7154554C>T	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.62G>A	17.37:g.7154554C>T	ENSP00000461749:p.Trp21*					CTDNEP1_uc002gfe.2_Nonsense_Mutation_p.W21*|C17orf81_uc002gfg.1_5'Flank|C17orf81_uc010cmb.3_5'Flank|C17orf81_uc002gfh.1_5'Flank|C17orf81_uc002gfi.1_5'Flank|C17orf81_uc002gfj.3_5'Flank|C17orf81_uc002gfk.1_5'Flank|C17orf81_uc021toz.1_5'Flank	p.W21*	NM_001143775	NP_056158	O95476	CNEP1_HUMAN			0	442	-			21					D3DTN7|Q96GQ9	Nonsense_Mutation	SNP	ENST00000573600.1	37	c.62G>A	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519716	0.96416	.	.	ENSG00000175826	ENST00000318988	.	.	.	5.41	4.44	0.53790	.	0.151779	0.47852	D	0.000209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3874	11.1681	0.48556	0.0:0.9118:0.0:0.0882	.	.	.	.	X	21	.	ENSP00000321732:W21X	W	-	2	0	CTDNEP1	7095278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.825000	0.48096	2.549000	0.85964	0.650000	0.86243	TGG		0.692	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		T	7154554	C	T	7154554	4	4	103	1	0	0	0	0	0	1	0	0	4799	595	21	3	704	3	DULLARD	17	7154554	Nonsense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		7154554	74040656	80	7070											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132	103	113					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.C238F	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577568	C	A	7577568	3	1	103	1	0	0	0	0	1	0	0	0	16378	478	17	5	577	5	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	423014	7577568	73617642	81	7071											
LSMD1	84316	broad.mit.edu	37	chr17	7760481	7760503	+	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	CTCAGCCGCCGAGTCCTCGCGCT	-																															tctagctgctgtcgggcgcgCtcagccgccgagtcctcgcg																										TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	ENST00000335155.5	-	2	94_116	c.95_117delAGCGCGAGGACTCGGCGGCTGAG	c.(94-117)gagcgcgaggactcggcggctgagfs	p.EREDSAAE32fs	LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000575208.1_De_novo_Start_OutOfFrame|LSMD1_ENST00000333775.5_Frame_Shift_Del_p.EREDSAAE80fs|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000576861.1_Frame_Shift_Del_p.EREDSAAE6fs|LSMD1_ENST00000575771.1_5'UTR			Q9BRA0	LSMD1_HUMAN		32					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GTCGGGCGCGCTCAGCCGCCGAGTCCTCGCGCTCTCCGTCCGA	0.682											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	uc002gja.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(238-261)gagcgcgaggactcggcggctgagfs		Homo sapiens LSM domain containing 1 (LSMD1), mRNA.																																				SO:0001589	frameshift_variant	84316					cytoplasm|nucleus		g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT																												ENST00000335155.5:c.95_117delAGCGCGAGGACTCGGCGGCTGAG	17.37:g.7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	ENSP00000335611:p.Glu32fs		OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_uc002giz.3_Frame_Shift_Del_p.E32fs|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	p.E80fs	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN			0	670_692	-		all_cancers(10;0.11)|Prostate(122;0.219)	32					Q8N4M0	Frame_Shift_Del	DEL	ENST00000335155.5	37	c.239_261delAGCGCGAGGACTCGGCGGCTGAG																																																																																					0.682	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				-	7760503	CTCAGCCGCCGAGTCCTCGCGCT	-	7760481	7	5	103	1	0	1	0	1	0	0	0	0	9062	796	28	0	268	0	LSMD1	17	7760481	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	TCGA-06-6694-01A-12D-1845-08	182913	7760481	73434729	82	7072											
PER1	5187	broad.mit.edu	37	chr17	8048179	8048179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttccttctgtgtgtgcaggGacagcacggccttggtcagc	5	11	13	12	1	2	0	1	0	1	0	3	1	3	1	2	3	3	2	2	3	0	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:8048179G>A	ENST00000317276.4	-	18	2588	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	PER1_ENST00000578089.1_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.S764F|PER1_ENST00000354903.5_Missense_Mutation_p.S768F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	784	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTGTGCAGGGACAGCACGGC	0.682			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														uc002gkd.3				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2350-2352)tCc>tTc	Other conserved DNA damage response genes	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.							40	29	32					17																	8048179		2203	4299	6502	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8048179G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2351C>T	17.37:g.8048179G>A	ENSP00000314420:p.Ser784Phe					PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.S768F	p.S784F	NM_002616	NP_002607	O15534	PER1_HUMAN			17	2589	-			784			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2351C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620176	0.87460	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.55234	2.01;0.53	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.82517	2.595	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.942	T	0.79117	-0.1935	10	0.87932	D	0	-25.6112	16.6273	0.84975	0.0:0.0:1.0:0.0	.	768;784	B4DI49;O15534	.;PER1_HUMAN	F	784;768	ENSP00000314420:S784F;ENSP00000346979:S768F	ENSP00000314420:S784F	S	-	2	0	PER1	7988904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.319000	0.79040	2.537000	0.85549	0.655000	0.94253	TCC		0.682	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8048179	G	A	8048179	3	1	103	1	0	0	0	0	1	0	0	0	11729	1174	41	3	1545	3	PER1	17	8048179	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	287698	8048179	73147031	83	7073											
LLGL1	3996	broad.mit.edu	37	chr17	18135847	18135847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcacaggcctgcaccGggatgcagccactgtcacac	9	6	12	14	1	2	0	2	0	0	0	2	2	2	2	3	3	3	3	3	3	0	1	rs369006714		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:18135847G>A	ENST00000316843.4	+	3	314	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	73					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGCCTGCACCGGGATGCAGCC	0.587																																						uc002gsp.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(217-219)cGg>cAg		Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.		G	GLN/ARG	2,4402	4.2+/-10.8	0,2,2200	75	62	67		218	1.1	0	17		67	0,8600		0,0,4300	no	missense	LLGL1	NM_004140.3	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign	73/1065	18135847	2,13002	2202	4300	6502	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18135847G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.218G>A	17.37:g.18135847G>A	ENSP00000321537:p.Arg73Gln						p.R73Q	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			2	279	+	all_neural(463;0.228)		73					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.218G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	8.150	0.787156	0.16189	4.54E-4	0.0	ENSG00000131899	ENST00000316843	D	0.95821	-3.82	5.78	1.08	0.20341	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.404782	0.27544	N	0.018893	D	0.85274	0.5659	N	0.12746	0.255	0.20489	N	0.999896	B	0.31009	0.303	B	0.19148	0.024	T	0.76553	-0.2917	10	0.36615	T	0.2	-1.1232	4.6337	0.12514	0.5918:0.1856:0.2226:0.0	.	73	Q15334	L2GL1_HUMAN	Q	73	ENSP00000321537:R73Q	ENSP00000321537:R73Q	R	+	2	0	LLGL1	18076572	0.006000	0.16342	0.042000	0.18584	0.505000	0.33919	2.217000	0.42880	0.069000	0.16605	-0.225000	0.12378	CGG		0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			A	18135847	G	A	18135847	3	1	103	1	0	0	0	0	1	0	0	0	8833	1116	39	2	228	2	LLGL1	17	18135847	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	10087668	18135847	63059363	84	7074											
MBTD1	54799	broad.mit.edu	37	chr17	49270165	49270165	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgatgctggaggctgtagTtgatatccagttaactgaca	10	13	12	6	0	0	3	0	3	0	0	1	4	1	4	1	2	2	5	1	2	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:49270165T>C	ENST00000586178.1	-	15	2011	c.1668A>G	c.(1666-1668)caA>caG	p.Q556Q	MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Silent_p.Q556Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	556					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q392Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGCTGTAGTTGATATCCAG	0.423																																						uc002itr.4																			2	Substitution - coding silent(2)	p.Q392Q(2)	ovary(1)|skin(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1666-1668)caA>caG		Homo sapiens mbt domain containing 1 (MBTD1), mRNA.							162	150	154					17																	49270165		2203	4300	6503	SO:0001819	synonymous_variant	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49270165T>C	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1668A>G	17.37:g.49270165T>C						MBTD1_uc002itp.4_Silent_p.Q392Q|MBTD1_uc002itq.4_3'UTR	p.Q556Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		14	2012	-			556					Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	c.1668A>G	CCDS11581.2																																																																																				0.423	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			C	49270165	T	C	49270165	2	2	103	1	0	0	0	0	0	0	0	1	9360	1722	60	4		4	MBTD1	17	49270165	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	31134318	49270165	31925045	85	7075											
BRIP1	83990	broad.mit.edu	37	chr17	59761146	59761147	+	Frame_Shift_Ins	INS	-	-	T																															agagcggatgttcagaatgaINSttttttctagtaagggtggc																										TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:59761146_59761147insT	ENST00000259008.2	-	20	3527_3528	c.3260_3261insA	c.(3259-3261)aatfs	p.N1087fs		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1087					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTCAGAATGATTTTTTCTAGT	0.376			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														uc002izk.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3259-3261)aatfs	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.																																				SO:0001589	frameshift_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761146_59761147insT	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3261dupA	17.37:g.59761152_59761152dupT	ENSP00000259008:p.Asn1087fs						p.N1087fs	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	3566_3567	-			1087					Q3MJE2|Q8NCI5	Frame_Shift_Ins	INS	ENST00000259008.2	37	c.3260_3261insA	CCDS11631.1																																																																																				0.376	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		T	59761147	-	T	59761146	7	5	103	1	0	1	1	0	0	0	0	0	1514	330	12	0	492	0	BRIP1	17	59761146	Frame_Shift_Ins	INS	-	TCGA-06-6694-01A-12D-1845-08	10490981	59761146	21434064	86	7076											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcccagaggcccccccGgcaggtcagggaacatgtcc	7	5	14	15	1	1	1	1	0	0	1	3	2	3	2	5	5	1	1	5	5	1	0	rs371251738		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr18:45566526G>A	ENST00000588982.1	-	3	1454	c.953C>T	c.(952-954)cCg>cTg	p.P318L	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P318L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	318	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617																																						uc010dnv.3																			1	Substitution - Missense(1)	p.P318L(1)	large_intestine(1)	endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1018-1020)cCg>cTg		Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.		G	LEU/PRO	0,4406		0,0,2203	48	53	51		953	5.3	0.7	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBTB7C	NM_001039360.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	318/620	45566526	1,13005	2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566526G>A	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.953C>T	18.37:g.45566526G>A	ENSP00000468782:p.Pro318Leu					ZBTB7C_uc002ldb.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P327L|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L	p.P340L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			2	1455	-			318					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.1019C>T	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576716	0.28092	0.0	1.16E-4	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.13307	2.6;2.6	5.34	5.34	0.76211	.	0.467476	0.24752	N	0.035894	T	0.11067	0.0270	N	0.19112	0.55	0.53005	D	0.999968	P;P	0.49253	0.921;0.867	B;B	0.38880	0.284;0.284	T	0.07829	-1.0752	10	0.48119	T	0.1	.	19.0131	0.92882	0.0:0.0:1.0:0.0	.	318;318	B2RG49;A1YPR0	.;ZBT7C_HUMAN	L	318	ENSP00000439781:P318L;ENSP00000328732:P318L	ENSP00000328732:P318L	P	-	2	0	ZBTB7C	43820524	1.000000	0.71417	0.706000	0.30403	0.320000	0.28249	9.827000	0.99397	2.491000	0.84063	0.561000	0.74099	CCG		0.617	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		A	45566526	G	A	45566526	3	1	103	1	0	0	0	0	1	0	0	0	17552	1116	39	2	914	2	ZBTB7C	18	45566526	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		45566526	32510722	87	7077											
C3	718	broad.mit.edu	37	chr19	6680198	6680198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggcgtagaccttgactGctccaggctggataagctct	10	10	11	10	1	1	2	0	1	1	1	2	3	2	3	2	3	2	4	2	3	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:6680198G>T	ENST00000245907.6	-	36	4519	c.4427C>A	c.(4426-4428)gCa>gAa	p.A1476E	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1476					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GACCTTGACTGCTCCAGGCTG	0.512																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4426-4428)gCa>gAa		Homo sapiens complement component 3 (C3), mRNA.							109	103	105					19																	6680198		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6680198G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4427C>A	19.37:g.6680198G>T	ENSP00000245907:p.Ala1476Glu						p.A1476E	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4489	-			1476					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4427C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651759	0.29336	.	.	ENSG00000125730	ENST00000245907	T	0.22945	1.93	4.97	2.81	0.32909	Alpha-macroglobulin, receptor-binding (3);	0.792906	0.11516	N	0.556228	T	0.42743	0.1216	M	0.73372	2.23	0.09310	N	1	D	0.54047	0.964	P	0.60345	0.873	T	0.21177	-1.0253	10	0.25751	T	0.34	.	9.418	0.38534	0.0807:0.1449:0.7744:0.0	.	1476	P01024	CO3_HUMAN	E	1476	ENSP00000245907:A1476E	ENSP00000245907:A1476E	A	-	2	0	C3	6631198	0.022000	0.18835	0.001000	0.08648	0.132000	0.20833	2.119000	0.41958	0.514000	0.28300	-0.291000	0.09656	GCA		0.512	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6680198	G	T	6680198	3	4	103	1	0	0	0	0	1	0	0	0	2204	1319	46	5	588	5	C3	19	6680198	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		6680198	52448785	88	7078											
KANK3	256949	broad.mit.edu	37	chr19	8389585	8389585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtccaggcgcccatactCactggcacacatcagcgctg	8	7	11	15	2	2	0	2	0	0	0	3	0	3	0	2	3	2	2	2	3	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:8389585C>T	ENST00000593649.1	-	9	2277	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	KANK3_ENST00000330915.3_Missense_Mutation_p.E738K			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	738										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCCATACTCACTGGCACAC	0.627																																						uc010dwa.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2212-2214)Gag>Aag		Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.							63	53	56					19																	8389585		2203	4300	6503	SO:0001583	missense	256949							g.chr19:8389585C>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2212G>A	19.37:g.8389585C>T	ENSP00000470728:p.Glu738Lys						p.E738K	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			8	2278	-			738					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.371173	0.82573	.	.	ENSG00000186994	ENST00000330915	T	0.65178	-0.14	4.78	4.78	0.61160	.	.	.	.	.	T	0.61375	0.2342	N	0.04203	-0.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71978	-0.4429	9	0.62326	D	0.03	-26.0733	16.5355	0.84372	0.0:1.0:0.0:0.0	.	738	Q6NY19-2	.	K	738	ENSP00000328923:E738K	ENSP00000328923:E738K	E	-	1	0	KANK3	8295585	1.000000	0.71417	0.955000	0.39395	0.320000	0.28249	5.805000	0.69143	2.474000	0.83562	0.561000	0.74099	GAG		0.627	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		T	8389585	C	T	8389585	3	4	103	1	0	0	0	0	1	0	0	0	7978	835	29	3	265	3	KANK3	19	8389585	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1709387	8389585	50739398	89	7079											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	13	12	11	5	0	0	1	0	0	0	1	0	2	0	2	1	2	3	5	1	2	6	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						uc002npb.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					ZNF626_uc002npc.1_Missense_Mutation_p.Y332C	p.Y408C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			3	1373	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		C	20807460	T	C	20807460	3	2	103	1	0	0	0	0	1	0	0	0	18047	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-06-6694-01A-12D-1845-08	12417875	20807460	38321523	90	7080											
ZNF257	113835	broad.mit.edu	37	chr19	22270778	22270778	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtttttatttcttttaGttatgtgttctcatattgct	5	26	6	4	0	2	0	1	0	2	0	3	0	2	0	0	0	1	5	0	0	4	11			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:22270778G>A	ENST00000594947.1	+	4	370		c.e4-1		ZNF257_ENST00000600162.1_Splice_Site	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTCTTTTAGTTATGTGTTC	0.294																																						uc010ecx.3																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.e4-1		Homo sapiens zinc finger protein 257 (ZNF257), mRNA.							37	38	38					19																	22270778		1885	4131	6016	SO:0001630	splice_region_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22270778G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.227-1G>A	19.37:g.22270778G>A						ZNF257_uc010ecy.3_Splice_Site_p.V44_splice	p.V76_splice	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	396	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	76					B3KPS4|E9PG34|Q8NE34	Splice_Site	SNP	ENST00000594947.1	37	c.227_splice	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	1.300	-0.605219	0.03717	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.06	-0.866	0.10659	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6415	0.04972	0.0:0.3067:0.3861:0.3072	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF257	22062618	0.027000	0.19231	0.016000	0.15963	0.061000	0.15899	0.634000	0.24614	0.506000	0.28125	0.298000	0.19748	.		0.294	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		Intron	A	22270778	G	A	22270778	5	1	103	1	0	0	0	0	0	0	1	0	17797	1043	36	3	240	3	ZNF257	19	22270778	Splice_Site	SNP	G	TCGA-06-6694-01A-12D-1845-08	1463318	22270778	36858205	91	7081											
ZNF302	55900	broad.mit.edu	37	chr19	35175737	35175737	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgaatgtgggaaggcCtttagccatggctcatcact	9	12	11	9	0	2	1	2	1	0	0	2	2	2	2	2	3	2	2	2	3	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:35175737C>G	ENST00000446502.2	+	6	1135	c.927C>G	c.(925-927)gcC>gcG	p.A309A	ZNF302_ENST00000505242.1_Silent_p.A265A|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.A265A|ZNF302_ENST00000457781.2_Silent_p.A265A			Q9NR11	ZN302_HUMAN	zinc finger protein 302	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGGAAGGCCTTTAGCCATG	0.448																																						uc002nvr.1																			0		p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(925-927)gcC>gcG		Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.							97	95	96					19																	35175737		2203	4300	6503	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175737C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.927C>G	19.37:g.35175737C>G						ZNF302_uc002nvp.1_Silent_p.A265A|ZNF302_uc002nvq.1_Silent_p.A265A|ZNF302_uc002nvs.1_Silent_p.A265A	p.A309A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1190	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		344					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.927C>G																																																																																					0.448	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			G	35175737	C	G	35175737	2	3	103	1	0	0	0	0	0	0	0	1	17829	668	24	5		5	ZNF302	19	35175737	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	12904959	35175737	23953246	92	7082											
CGB8	94115	broad.mit.edu	37	chr19	49551985	49551985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggccctgcagtcttacctgGaacatctccatccttggtgt	6	12	10	13	0	2	0	0	0	2	0	4	1	3	1	4	3	3	1	4	3	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:49551985G>A	ENST00000448456.3	-	1	378	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CGB8_ENST00000355414.2_Silent_p.F2F|CGB1_ENST00000391869.3_Silent_p.F2F	NM_033183.2	NP_149439.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8	4			F -> L (in dbSNP:rs6516). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTCTTACCTGGAACATCTCCA	0.602																																						uc002pmb.4																			0				pancreas(1)	1						c.(10-12)ttC>ttT		Homo sapiens chorionic gonadotropin, beta polypeptide 8 (CGB8), mRNA.	Choriogonadotropin alfa(DB00097)						259	231	240					19																	49551985		2203	4300	6503	SO:0001819	synonymous_variant	94115				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49551985G>A	BG435249	CCDS12753.1	19q13.32	2011-05-26							16453	protein-coding gene	gene with protein product		608827				6194155	Standard	NM_033183		Approved		uc002pmb.4	P01233		ENST00000448456.3:c.12C>T	19.37:g.49551985G>A						CGB8_uc002pmc.3_Intron	p.F4F	NM_033183	NP_149439	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	0	384	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	4		F -> L (in dbSNP:rs6516).			A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Silent	SNP	ENST00000448456.3	37	c.12C>T	CCDS12753.1																																																																																				0.602	CGB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452168.1	NM_033183		A	49551985	G	A	49551985	2	1	103	1	0	0	0	0	0	0	0	1	3301	1165	41	3		3	CGB8	19	49551985	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	14376248	49551985	9576998	93	7083											
C19orf18	147685	broad.mit.edu	37	chr19	58485726	58485726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagtccatctgcataCggcaagcataaatgaagttg	13	9	12	7	1	1	1	0	1	1	0	2	3	2	3	1	3	3	4	1	3	5	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:58485726C>T	ENST00000314391.3	-	1	176	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	25						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATCTGCATACGGCAAGCATA	0.393																																						uc002qqv.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(73-75)ccG>ccA		Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.							128	122	124					19																	58485726		2203	4300	6503	SO:0001819	synonymous_variant	147685					integral to membrane		g.chr19:58485726C>T	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.75G>A	19.37:g.58485726C>T							p.P25P	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	0	177	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	25						Silent	SNP	ENST00000314391.3	37	c.75G>A	CCDS12967.1																																																																																				0.393	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		T	58485726	C	T	58485726	2	4	103	1	0	0	0	0	0	0	0	1	1910	523	19	1		1	C19orf18	19	58485726	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	8933741	58485726	643257	94	7084											
RALGAPA2	57186	broad.mit.edu	37	chr20	20571899	20571899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgctgctgctgtcccaCtgtgagatggccagatccgg	6	9	13	13	1	0	2	0	1	0	2	2	4	2	2	4	2	3	3	4	2	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:20571899C>T	ENST00000202677.7	-	17	2270	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	755					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTGTCCCACTGTGAGATGG	0.512																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(2263-2265)Gtg>Atg		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							65	72	70					20																	20571899		2061	4193	6254	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20571899C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2263G>A	20.37:g.20571899C>T	ENSP00000202677:p.Val755Met					RALGAPA2_uc002wry.3_Missense_Mutation_p.V370M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V203M	p.V755M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			16	2406	-			755					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2263G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245091	0.22796	.	.	ENSG00000188559	ENST00000202677	T	0.69926	-0.44	5.73	2.71	0.32032	.	2.443310	0.01433	N	0.014828	T	0.52289	0.1725	L	0.28115	0.83	0.09310	N	1	B;B	0.29805	0.004;0.257	B;B	0.22386	0.007;0.039	T	0.44112	-0.9349	10	0.46703	T	0.11	.	3.6275	0.08119	0.1352:0.5863:0.1311:0.1474	.	593;755	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	M	755	ENSP00000202677:V755M	ENSP00000202677:V755M	V	-	1	0	RALGAPA2	20519899	0.000000	0.05858	0.016000	0.15963	0.138000	0.21146	-0.014000	0.12656	0.765000	0.33221	-0.176000	0.13171	GTG		0.512	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		T	20571899	C	T	20571899	3	4	103	1	0	0	0	0	1	0	0	0	13014	565	20	3	3450	3	RALGAPA2	20	20571899	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		20571899	42453621	95	7085											
MYLK2	85366	broad.mit.edu	37	chr20	30409482	30409482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccctcagagaaatcCgaggtggggcaggccctctg	7	8	14	12	1	2	1	1	0	1	1	4	3	4	1	3	4	0	3	3	4	1	1	rs374323310		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:30409482C>T	ENST00000375994.2	+	3	987	c.714C>T	c.(712-714)tcC>tcT	p.S238S	MYLK2_ENST00000375985.4_Silent_p.S238S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	238					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAAATCCGAGGTGGGGC	0.637																																						uc002wwq.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(712-714)tcC>tcT		Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	85	95	92		714	0.2	0.7	20		92	0,8600		0,0,4300	no	coding-synonymous	MYLK2	NM_033118.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		238/597	30409482	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409482C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.714C>T	20.37:g.30409482C>T							p.S238S	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	816	+			238					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.714C>T	CCDS13191.1																																																																																				0.637	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		T	30409482	C	T	30409482	2	4	103	1	0	0	0	0	0	0	0	1	10057	639	23	2		2	MYLK2	20	30409482	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	9837583	30409482	32616038	96	7086											
TTPAL	79183	broad.mit.edu	37	chr20	43115268	43115268	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcggataaaagcagtccaTgtggtgaatgaacctcgaat	14	10	10	7	2	0	2	0	2	0	0	3	4	1	3	2	2	2	1	2	2	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:43115268T>C	ENST00000372904.3	+	5	815	c.672T>C	c.(670-672)caT>caC	p.H224H	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Silent_p.H224H	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	224	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCAGTCCATGTGGTGAATG	0.408																																						uc002xmc.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.(670-672)caT>caC		Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.							121	115	117					20																	43115268		2203	4300	6503	SO:0001819	synonymous_variant	79183					intracellular	transporter activity	g.chr20:43115268T>C	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.672T>C	20.37:g.43115268T>C						TTPAL_uc002xmd.1_Silent_p.H224H|TTPAL_uc010ggr.1_Silent_p.H37H	p.H224H	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			4	796	+			224			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	c.672T>C	CCDS13332.2																																																																																				0.408	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		C	43115268	T	C	43115268	2	2	103	1	0	0	0	0	0	0	0	1	16734	1461	51	4		4	TTPAL	20	43115268	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	12705786	43115268	19910252	97	7087											
TRAPPC10	7109	broad.mit.edu	37	chr21	45513965	45513965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatctacagcaagcagtcgGtgttcttcgtctgggaactc	8	11	10	12	2	3	0	0	0	3	0	6	1	3	1	1	2	4	3	1	2	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:45513965G>A	ENST00000291574.4	+	20	3194	c.3019G>A	c.(3019-3021)Gtg>Atg	p.V1007M	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1007					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.V1007L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAAGCAGTCGGTGTTCTTCGT	0.542																																						uc002zea.3																			1	Substitution - Missense(1)	p.V1007L(2)|p.V1007A(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3019-3021)Gtg>Atg		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							147	130	136					21																	45513965		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45513965G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3019G>A	21.37:g.45513965G>A	ENSP00000291574:p.Val1007Met					TRAPPC10_uc010gpo.3_Missense_Mutation_p.V718M|TRAPPC10_uc011afa.2_Missense_Mutation_p.V385M|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112M	p.V1007M	NM_003274	NP_003265	P48553	TPC10_HUMAN			19	3188	+			1007					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3019G>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159541	0.38119	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.30714	1.52	5.11	4.22	0.49857	.	0.148349	0.46442	D	0.000294	T	0.27866	0.0686	L	0.43923	1.385	0.46927	D	0.99925	P;P;B	0.45428	0.858;0.512;0.163	B;B;B	0.43386	0.418;0.115;0.117	T	0.03807	-1.1002	10	0.59425	D	0.04	.	8.6692	0.34140	0.0822:0.2892:0.6285:0.0	.	112;266;1007	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	M	1007;138	ENSP00000291574:V1007M	ENSP00000291574:V1007M	V	+	1	0	TRAPPC10	44338393	0.988000	0.35896	0.942000	0.38095	0.914000	0.54420	2.057000	0.41365	1.274000	0.44362	-0.150000	0.13652	GTG		0.542	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45513965	G	A	45513965	3	1	103	1	0	0	0	0	1	0	0	0	16454	1261	44	3	3097	3	TRAPPC10	21	45513965	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		45513965	2615930	98	7088											
COL6A1	1291	broad.mit.edu	37	chr21	47421892	47421892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttcgagccagggcagtcGtacgcgggtgtggtgcagta	7	8	17	9	4	0	0	0	0	0	0	2	1	0	0	1	3	3	5	1	3	2	3	rs568596125		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:47421892G>A	ENST00000361866.3	+	31	2088	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	658	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGCAGTCGTACGCGGGTG	0.652																																						uc002zhu.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1972-1974)tcG>tcA		Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	Palifermin(DB00039)						38	36	37					21																	47421892		2203	4300	6503	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47421892G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1974G>A	21.37:g.47421892G>A						COL6A1_uc002zhv.1_5'UTR	p.S658S	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	30	2076	+	all_hematologic(128;0.24)		658			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.1974G>A	CCDS13727.1																																																																																				0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		A	47421892	G	A	47421892	2	1	103	1	0	0	0	0	0	0	0	1	3699	1132	40	1		1	COL6A1	21	47421892	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	1907927	47421892	708003	99	7089											
CCT8L2	150160	broad.mit.edu	37	chr22	17072055	17072055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcatttctgccatcacGtctgagacagctaagcctgc	9	10	7	15	1	4	1	2	1	2	1	4	2	4	1	3	0	4	1	3	0	1	2	rs370876356		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr22:17072055G>A	ENST00000359963.3	-	1	1645	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	462					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCCATCACGTCTGAGACAG	0.527																																						uc002zlp.1																			0		p.D462H(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1384-1386)gaC>gaT		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	125	128	127		1386	-4	0	22		127	0,8600		0,0,4300	no	coding-synonymous	CCT8L2	NM_014406.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		462/558	17072055	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072055G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1386C>T	22.37:g.17072055G>A							p.D462D	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	1646	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	462					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.1386C>T	CCDS13738.1																																																																																				0.527	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17072055	G	A	17072055	2	1	103	1	0	0	0	0	0	0	0	1	2961	1136	40	1		1	CCT8L2	22	17072055	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		17072055	34232511	100	7090											
RAI2	10742	broad.mit.edu	37	chrX	17819726	17819726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcaggaccagaggggaGttgaggtgctgaaagacgtg	10	6	19	6	2	0	4	0	2	0	2	0	6	0	6	1	5	2	3	1	5	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:17819726G>A	ENST00000545871.1	-	3	865	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RAI2_ENST00000331511.1_Silent_p.N135N|RAI2_ENST00000451717.1_Silent_p.N135N|RAI2_ENST00000415486.3_Silent_p.N85N|RAI2_ENST00000360011.1_Silent_p.N135N	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	135					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCAGAGGGGAGTTGAGGTGCT	0.642																																						uc022btm.1																			0		p.N135D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(403-405)aaC>aaT		Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.							62	66	64					X																	17819726		2201	4297	6498	SO:0001819	synonymous_variant	10742				embryo development			g.chrX:17819726G>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.405C>T	X.37:g.17819726G>A						RAI2_uc004cyf.3_Silent_p.N135N|RAI2_uc004cyg.3_Silent_p.N135N|RAI2_uc011miy.2_Silent_p.N85N|RAI2_uc022btl.1_Silent_p.N135N|RAI2_uc004cyh.4_Silent_p.N135N|RAI2_uc010nfa.3_Silent_p.N135N	p.N135N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			0	405	-	Hepatocellular(33;0.183)		135					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	c.405C>T	CCDS14183.1																																																																																				0.642	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		A	17819726	G	A	17819726	2	1	103	1	0	0	0	0	0	0	0	1	13009	1020	36	3		3	RAI2	23	17819726	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		17819726	137450834	101	7091											
ACOT9	23597	broad.mit.edu	37	chrX	23731303	23731303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatgttgcatccaaaacaGgacaaaattcatcaccatgt	17	9	5	10	0	2	0	2	0	0	0	3	1	3	1	2	1	2	2	2	1	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:23731303G>T	ENST00000336430.7	-	8	715	c.584C>A	c.(583-585)cCt>cAt	p.P195H	ACOT9_ENST00000379295.1_Missense_Mutation_p.P135H|ACOT9_ENST00000379303.5_Missense_Mutation_p.P204H|ACOT9_ENST00000492081.1_Intron	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	195					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATCCAAAACAGGACAAAATTC	0.328																																						uc004dao.3																			0		p.V204M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(610-612)cCt>cAt		Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							79	68	72					X																	23731303		2203	4300	6503	SO:0001583	missense	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23731303G>T	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.584C>A	X.37:g.23731303G>T	ENSP00000336580:p.Pro195His					ACOT9_uc004dap.3_Missense_Mutation_p.P195H|ACOT9_uc011mjt.2_Intron|ACOT9_uc004dar.3_Missense_Mutation_p.P135H|ACOT9_uc004dat.1_Missense_Mutation_p.P195H	p.P204H	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN			8	757	-			195					B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	c.611C>A	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299683	0.40694	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.82	3.9	0.45041	.	0.151759	0.64402	D	0.000012	T	0.28333	0.0700	L	0.55103	1.725	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.07770	-1.0755	10	0.19147	T	0.46	-14.4972	14.2076	0.65744	0.0:0.0:0.8508:0.1492	.	162;195;204	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	H	204;195;135;121	ENSP00000368605:P204H;ENSP00000336580:P195H;ENSP00000368597:P135H;ENSP00000420490:P121H	ENSP00000336580:P195H	P	-	2	0	ACOT9	23641224	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.874000	0.63064	2.134000	0.65973	0.525000	0.51046	CCT		0.328	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		T	23731303	G	T	23731303	3	4	103	1	0	0	0	0	1	0	0	0	157	1000	35	5	767	5	ACOT9	23	23731303	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	5911577	23731303	131539257	102	7092											
FAM47C	442444	broad.mit.edu	37	chrX	37027694	37027694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgtctcctctcttccCggagcctcccaagactcgca	6	10	9	16	2	2	1	0	0	2	1	7	3	4	3	4	2	1	1	4	2	1	1	rs373282135		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:37027694C>T	ENST00000358047.3	+	1	1263	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	404										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCTCTTCCCGGAGCCTCCC	0.607													N|||	1	0.000264901	8e-04	0	3775	,	,		13081	0		0	False		,,,				2504	0					uc004ddl.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1210-1212)cCg>cTg		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.		C	LEU/PRO	3,3830		0,3,1628,571	53	55	54		1211	-1.1	0	X		54	0,6728		0,0,2428,1872	no	missense	FAM47C	NM_001013736.2	98	0,3,4056,2443	TT,TC,CC,C		0.0,0.0783,0.0284	probably-damaging	404/1036	37027694	3,10558	2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027694C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1211C>T	X.37:g.37027694C>T	ENSP00000367913:p.Pro404Leu						p.P404L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	1263	+			404					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1211C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	5.174	0.217627	0.09810	7.83E-4	0.0	ENSG00000198173	ENST00000358047	T	0.22743	1.94	0.53	-1.06	0.10002	.	.	.	.	.	T	0.28234	0.0697	L	0.48877	1.53	0.09310	N	1	D	0.76494	0.999	D	0.63381	0.914	T	0.22591	-1.0212	9	0.54805	T	0.06	.	2.6613	0.05027	0.2624:0.4959:0.0:0.2417	.	404	Q5HY64	FA47C_HUMAN	L	404	ENSP00000367913:P404L	ENSP00000367913:P404L	P	+	2	0	FAM47C	36937615	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.484000	0.22308	-1.804000	0.01241	-1.097000	0.02148	CCG		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37027694	C	T	37027694	3	4	103	1	0	0	0	0	1	0	0	0	5571	652	23	2	1213	2	FAM47C	23	37027694	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	13296391	37027694	118242866	103	7093											
SYN1	6853	broad.mit.edu	37	chrX	47478794	47478794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcagcaccctggaggCggctcccccgcggcctgcgc	5	3	14	19	4	0	0	0	0	0	0	1	2	1	1	5	4	3	3	5	4	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47478794C>G	ENST00000295987.7	-	1	458	c.334G>C	c.(334-336)Gcc>Ccc	p.A112P	SYN1_ENST00000340666.4_Missense_Mutation_p.A112P	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	112	B; linker.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ACCCTGGAGGCGGCTCCCCCG	0.716																																						uc004die.3																			0		p.A111A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						c.(334-336)Gcc>Ccc		Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.							5	7	6					X																	47478794		1763	3588	5351	SO:0001583	missense	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47478794C>G		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.334G>C	X.37:g.47478794C>G	ENSP00000295987:p.Ala112Pro					SYN1_uc004did.3_Missense_Mutation_p.A112P	p.A112P	NM_006950	NP_008881	P17600	SYN1_HUMAN			0	463	-			112			B; linker.		B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	c.334G>C	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	c	11.69	1.713745	0.30413	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.30981	1.93;1.51	2.6	2.6	0.31112	PreATP-grasp-like fold (1);	0.314427	0.29355	N	0.012386	T	0.17195	0.0413	N	0.08118	0	0.28666	N	0.905852	P;D	0.54207	0.882;0.965	B;P	0.48227	0.212;0.571	T	0.03077	-1.1075	10	0.48119	T	0.1	.	4.854	0.13550	0.0:0.8229:0.0:0.1771	.	112;112	P17600;P17600-2	SYN1_HUMAN;.	P	112	ENSP00000295987:A112P;ENSP00000343206:A112P	ENSP00000295987:A112P	A	-	1	0	SYN1	47363738	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.120000	0.31271	1.595000	0.50050	0.458000	0.33432	GCC		0.716	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		G	47478794	C	G	47478794	3	3	103	1	0	0	0	0	1	0	0	0	15437	768	27	5	1835	5	SYN1	23	47478794	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	10451100	47478794	107791766	104	7094											
ZNF182	7569	broad.mit.edu	37	chrX	47836621	47836621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattcaggacactcaaaggGtctctctcctgtatgagttc	10	12	8	11	0	4	1	2	1	2	0	7	2	4	2	1	2	0	2	1	2	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47836621G>A	ENST00000396965.1	-	7	1215	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	ZNF182_ENST00000305127.6_Missense_Mutation_p.P289S|ZNF182_ENST00000376943.3_Missense_Mutation_p.P270S	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCAAAGGGTCTCTCTCCT	0.403																																						uc004dir.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(865-867)Ccc>Tcc		Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.							82	73	76					X																	47836621		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836621G>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.865C>T	X.37:g.47836621G>A	ENSP00000380165:p.Pro289Ser					ZNF182_uc004dis.3_Missense_Mutation_p.P270S|ZNF182_uc004dit.3_Missense_Mutation_p.P289S	p.P289S	NM_006962	NP_008893	P17025	ZN182_HUMAN			6	1211	-			289					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.865C>T	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316009	0.60524	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.28454	1.61;1.61;1.61	4.53	3.67	0.42095	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45357	0.1338	L	0.46885	1.475	0.42178	D	0.991674	D;P;D	0.89917	1.0;0.891;0.981	D;P;P	0.87578	0.998;0.668;0.495	T	0.40308	-0.9570	9	0.72032	D	0.01	.	9.7442	0.40437	0.1047:0.0:0.8953:0.0	.	269;270;289	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	S	270;289;289	ENSP00000366142:P270S;ENSP00000380165:P289S;ENSP00000306351:P289S	ENSP00000306351:P289S	P	-	1	0	ZNF182	47721565	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.486000	0.81215	1.044000	0.40200	0.594000	0.82650	CCC		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		A	47836621	G	A	47836621	3	1	103	1	0	0	0	0	1	0	0	0	17747	1261	44	3	1058	3	ZNF182	23	47836621	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	357827	47836621	107433939	105	7095											
SMC1A	8243	broad.mit.edu	37	chrX	53439849	53439849	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggtctgcctcttaCttgatctccttctcaatctg	6	14	7	14	0	5	1	1	1	5	0	7	1	5	1	3	2	2	0	3	2	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:53439849C>T	ENST00000322213.4	-	5	982		c.e5+1		SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A						DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGCCTCTTACTTGAtctcct	0.502																																						uc004dsg.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.e5+1		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							142	122	129					X																	53439849		2203	4300	6503	SO:0001630	splice_region_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439849C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.854+1G>A	X.37:g.53439849C>T						SMC1A_uc011moe.2_Splice_Site_p.K263_splice|SMC1A_uc011mof.2_Intron	p.K285_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			5	923	-			285					O14995|Q16351|Q2M228	Splice_Site	SNP	ENST00000322213.4	37	c.854_splice	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093054	0.56075	.	.	ENSG00000072501	ENST00000322213	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8687	0.70437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMC1A	53456574	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.234000	0.78134	1.941000	0.56285	0.436000	0.28706	.		0.502	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	Intron	T	53439849	C	T	53439849	5	4	103	1	0	0	0	0	0	0	1	0	14781	579	20	3	2930	3	SMC1A	23	53439849	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	5603228	53439849	101830711	106	7096											
P2RY10	27334	broad.mit.edu	37	chrX	78216911	78216911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccttgcaagtctctgctgCcttttggatccaattcttta	6	17	7	11	0	2	0	0	0	2	0	4	1	3	1	3	1	4	2	3	1	3	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:78216911C>T	ENST00000171757.2	+	4	1174	c.894C>T	c.(892-894)tgC>tgT	p.C298C	P2RY10_ENST00000544091.1_Silent_p.C298C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTCTCTGCTGCCTTTTGGATC	0.483																																						uc022bzl.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(892-894)tgC>tgT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							207	191	197					X																	78216911		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216911C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.894C>T	X.37:g.78216911C>T						P2RY10_uc004ede.3_Silent_p.C298C|P2RY10_uc004edf.3_Silent_p.C298C	p.C298C	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	894	+			298					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.894C>T	CCDS14442.1																																																																																				0.483	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			T	78216911	C	T	78216911	2	4	103	1	0	0	0	0	0	0	0	1	11347	747	26	3		3	P2RY10	23	78216911	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	24777062	78216911	77053649	107	7097											
PABPC5	140886	broad.mit.edu	37	chrX	90690820	90690820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaacaccatgaattttGatttgattaatggaaaacca	15	13	6	7	0	0	4	0	4	0	0	0	5	0	5	3	1	2	0	3	1	5	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690820G>T	ENST00000312600.3	+	2	458	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	82	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATGAATTTTGATTTGATTAA	0.483																																						uc022bzs.1																			0		p.F81L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(244-246)Gat>Tat		Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.							41	35	37					X																	90690820		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690820G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.244G>T	X.37:g.90690820G>T	ENSP00000308012:p.Asp82Tyr					PABPC5_uc004efg.3_Missense_Mutation_p.D82Y	p.D82Y	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			0	244	+			82			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.244G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589933	0.46214	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.15718	2.4	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.01289	-0.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52403	-0.8580	10	0.87932	D	0	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	82	Q96DU9	PABP5_HUMAN	Y	82;50	ENSP00000308012:D82Y	ENSP00000308012:D82Y	D	+	1	0	PABPC5	90577476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.240000	0.95396	2.450000	0.82876	0.600000	0.82982	GAT		0.483	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		T	90690820	G	T	90690820	3	4	103	1	0	0	0	0	1	0	0	0	11367	1290	45	5	246	5	PABPC5	23	90690820	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	12473909	90690820	64579740	108	7098											
PABPC5	140886	broad.mit.edu	37	chrX	90690988	90690988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattctgtcctgcaaagtcGtatgcgatgacaacggctct	10	11	9	11	3	2	1	0	1	2	0	4	2	3	1	1	1	3	3	1	1	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690988G>A	ENST00000312600.3	+	2	626	c.412G>A	c.(412-414)Gta>Ata	p.V138I	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCAAAGTCGTATGCGATGA	0.453																																						uc022bzs.1																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(412-414)Gta>Ata		Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.							96	85	89					X																	90690988		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690988G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.412G>A	X.37:g.90690988G>A	ENSP00000308012:p.Val138Ile					PABPC5_uc004efg.3_Missense_Mutation_p.V138I	p.V138I	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			0	412	+			138			RRM 2.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.412G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045495	0.55110	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.17370	2.28	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058814	0.64402	D	0.000002	T	0.12944	0.0314	N	0.17901	0.54	0.58432	D	0.999993	P	0.46952	0.887	B	0.41646	0.362	T	0.03555	-1.1025	10	0.66056	D	0.02	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	138	Q96DU9	PABP5_HUMAN	I	138;106	ENSP00000308012:V138I	ENSP00000308012:V138I	V	+	1	0	PABPC5	90577644	1.000000	0.71417	0.852000	0.33557	0.983000	0.72400	3.659000	0.54489	2.450000	0.82876	0.600000	0.82982	GTA		0.453	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		A	90690988	G	A	90690988	3	1	103	1	0	0	0	0	1	0	0	0	11367	1145	40	1	414	1	PABPC5	23	90690988	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	168	90690988	64579572	109	7099											
BHLHB9	80823	broad.mit.edu	37	chrX	102005060	102005060	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcagttttccttccccTgaaatgagaaaaaagactgt	12	13	7	9	0	1	3	1	2	0	2	3	4	3	3	3	0	1	2	3	0	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:102005060T>A	ENST00000372735.1	+	4	1722	c.1137T>A	c.(1135-1137)ccT>ccA	p.P379P	BHLHB9_ENST00000457056.1_Silent_p.P379P|BHLHB9_ENST00000361229.4_Silent_p.P379P|BHLHB9_ENST00000447531.1_Silent_p.P379P|BHLHB9_ENST00000448867.1_Silent_p.P379P			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	379					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCCTTCCCCTGAAATGAGAA	0.378																																						uc022cbi.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1135-1137)ccT>ccA		Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.							71	62	65					X																	102005060		2203	4300	6503	SO:0001819	synonymous_variant	80823					cytoplasm|nucleus	binding	g.chrX:102005060T>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1137T>A	X.37:g.102005060T>A						BHLHB9_uc010nog.3_Silent_p.P379P|BHLHB9_uc011mrq.2_Silent_p.P379P|BHLHB9_uc011mrr.2_Silent_p.P379P|BHLHB9_uc011mrs.2_Silent_p.P379P|BHLHB9_uc011mrt.2_Silent_p.P379P|BHLHB9_uc004ejo.3_Silent_p.P379P|BHLHB9_uc011mru.2_Silent_p.P379P|BHLHB9_uc011mrv.2_Silent_p.P379P	p.P379P	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN			0	1137	+			379					Q9C0G2	Silent	SNP	ENST00000372735.1	37	c.1137T>A	CCDS14502.1																																																																																				0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		A	102005060	T	A	102005060	2	1	103	1	0	0	0	0	0	0	0	1	1420	1567	55	5		5	BHLHB9	23	102005060	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	11314072	102005060	53265500	110	7100											
AKAP14	158798	broad.mit.edu	37	chrX	119048716	119048716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagtttgtagagaggaaaGacttaattcacagcttcctc	13	12	9	7	0	1	3	1	0	0	3	3	5	2	4	1	1	1	3	1	1	4	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:119048716G>C	ENST00000371431.3	+	5	590	c.316G>C	c.(316-318)Gac>Cac	p.D106H	AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	106					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408																																						uc004ese.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(316-318)Gac>Cac		Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.							185	155	165					X																	119048716		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119048716G>C	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"A-kinase anchor proteins"	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.316G>C	X.37:g.119048716G>C	ENSP00000360485:p.Asp106His					AKAP14_uc004esf.3_Intron	p.D106H	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN			4	454	+			106					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.316G>C	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178736	0.57692	.	.	ENSG00000186471	ENST00000371431	.	.	.	4.73	4.73	0.59995	.	0.178473	0.38837	N	0.001542	T	0.77032	0.4071	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79983	-0.1573	9	0.72032	D	0.01	-22.0467	13.8613	0.63561	0.0:0.0:1.0:0.0	.	106	Q86UN6	AKA28_HUMAN	H	106	.	ENSP00000360485:D106H	D	+	1	0	AKAP14	118932744	0.996000	0.38824	0.123000	0.21794	0.140000	0.21249	3.159000	0.50731	2.093000	0.63338	0.600000	0.82982	GAC		0.408	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		C	119048716	G	C	119048716	3	2	103	1	0	0	0	0	1	0	0	0	450	942	33	5	335	5	AKAP14	23	119048716	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	17043656	119048716	36221844	111	7101											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299171	125299171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccacatccctcggaCggatgtgggcatatactggg	7	9	13	12	2	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:125299171C>T	ENST00000360028.2	-	1	763	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R246H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(736-738)cGt>cAt		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							33	36	35					X																	125299171		2203	4298	6501	SO:0001583	missense	340578							g.chrX:125299171C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.737G>A	X.37:g.125299171C>T	ENSP00000353128:p.Arg246His						p.R246H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	910	-			246					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.737G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382091	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18016	2.24;2.24	3.87	-1.21	0.09524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.186280	0.06407	N	0.719915	T	0.12135	0.0295	L	0.43152	1.355	0.09310	N	1	D	0.53151	0.958	B	0.42188	0.379	T	0.23226	-1.0194	10	0.13470	T	0.59	.	3.4268	0.07413	0.189:0.3404:0.0:0.4706	.	246	Q5VW00	DC122_HUMAN	H	246	ENSP00000441489:R246H;ENSP00000353128:R246H	ENSP00000353128:R246H	R	-	2	0	DCAF12L2	125126852	0.264000	0.24093	0.001000	0.08648	0.106000	0.19336	0.473000	0.22132	-0.455000	0.07054	0.544000	0.68410	CGT		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299171	C	T	125299171	3	4	103	1	0	0	0	0	1	0	0	0	4265	536	19	1	658	1	DCAF12L2	23	125299171	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	6250455	125299171	29971389	112	7102											
ZNF449	203523	broad.mit.edu	37	chrX	134494349	134494349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggagagacacctgagaactCcaacttggaagaacctctca	14	6	10	11	0	1	3	1	1	1	3	3	7	2	5	3	2	3	0	3	2	4	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:134494349C>G	ENST00000339249.4	+	5	1045	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	302					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAACTCCAACTTGGAA	0.468																																						uc004eys.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(904-906)tCc>tGc		Homo sapiens zinc finger protein 449 (ZNF449), mRNA.							57	58	57					X																	134494349		2202	4298	6500	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494349C>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.905C>G	X.37:g.134494349C>G	ENSP00000339585:p.Ser302Cys					ZNF449_uc004eyt.3_Missense_Mutation_p.S182C|ZNF449_uc004eyu.3_Missense_Mutation_p.S108C	p.S302C	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			4	1070	+	Acute lymphoblastic leukemia(192;6.56e-05)		302					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.905C>G	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	2.622	-0.288419	0.05605	.	.	ENSG00000173275	ENST00000339249	T	0.06687	3.27	5.04	2.33	0.28932	.	0.490245	0.17451	N	0.173784	T	0.04137	0.0115	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45629	-0.9248	10	0.02654	T	1	.	5.8113	0.18467	0.0:0.6656:0.0:0.3344	.	302	Q6P9G9	ZN449_HUMAN	C	302	ENSP00000339585:S302C	ENSP00000339585:S302C	S	+	2	0	ZNF449	134322015	0.000000	0.05858	0.124000	0.21820	0.304000	0.27724	-0.266000	0.08631	0.639000	0.30564	0.594000	0.82650	TCC		0.468	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		G	134494349	C	G	134494349	3	3	103	1	0	0	0	0	1	0	0	0	17917	855	30	5	919	5	ZNF449	23	134494349	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	9195178	134494349	20776211	113	7103											
FLNA	2316	broad.mit.edu	37	chrX	153581222	153581222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgaccctgcacgtcccGtcctccaggtcctctgtgtt	4	12	10	15	2	1	1	0	1	1	0	5	1	5	1	5	2	1	2	5	2	1	2	rs377571943		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:153581222G>A	ENST00000369850.3	-	39	6533	c.6297C>T	c.(6295-6297)gaC>gaT	p.D2099D	FLNA_ENST00000369856.3_Silent_p.D232D|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.D2091D|FLNA_ENST00000422373.1_Silent_p.D2091D|FLNA_ENST00000344736.4_Silent_p.D2059D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2099					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACGTCCCGTCCTCCAGGT	0.602																																						uc004fkk.2																			0				breast(6)	6						c.(6295-6297)gaC>gaT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.		G	,	1,3725		0,1,1577,570	103	105	105		6297,6273	-4.7	0.9	X		105	0,6627		0,0,2396,1835	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,1,3973,2405	AA,AG,GG,G		0.0,0.0268,0.0097	,	2099/2648,2091/2640	153581222	1,10352	2148	4231	6379	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581222G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6297C>T	X.37:g.153581222G>A						FLNA_uc011mzn.1_Silent_p.D232D|FLNA_uc010nuu.1_Silent_p.D2091D	p.D2099D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			38	6546	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2099					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6297C>T	CCDS48194.1																																																																																				0.602	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153581222	G	A	153581222	2	1	103	1	0	0	0	0	0	0	0	1	5933	1136	40	1		1	FLNA	23	153581222	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	19086873	153581222	1689338	114	7104											
NBPF1	55672	broad.mit.edu	37	chr1	16892156	16892156	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagagaaaagccaacatgTttttcctccaatgcataaaa	17	10	5	9	0	1	1	1	0	0	1	3	2	3	1	3	0	3	2	3	0	7	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:16892156T>C	ENST00000430580.2	-	27	3923	c.3036A>G	c.(3034-3036)aaA>aaG	p.K1012K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1012	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCCAACATGTTTTTCCTCCA	0.438																																						uc009vos.1																			0											c.(3034-3036)aaA>aaG		Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							133	129	130					1																	16892156		1477	2601	4078	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16892156T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3036A>G	1.37:g.16892156T>C						AB1_uc001ayw.3_5'Flank	p.K1012K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3924	-			1012			NBPF 6.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.3036A>G																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		C	16892156	T	C	16892156	2	2	104	1	0	0	0	0	0	0	0	1	10192	1722	60	4		4	NBPF1	1	16892156	Silent	SNP	T	TCGA-06-6695-01A-11D-1845-08		16892156	232358465	1	7105											
EPHA8	2046	broad.mit.edu	37	chr1	22924331	22924331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatcccaacatcatccGcctcgagggtgtcgtcaccc	8	7	8	18	4	2	0	2	0	0	0	6	2	4	0	5	1	1	0	5	1	1	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:22924331G>A	ENST00000166244.3	+	11	2165	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACATCATCCGCCTCGAGGGT	0.642																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2092-2094)cGc>cAc		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							84	84	84					1																	22924331		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924331G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2093G>A	1.37:g.22924331G>A	ENSP00000166244:p.Arg698His						p.R698H	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	2218	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	698			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2093G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281759	0.23392	.	.	ENSG00000070886	ENST00000166244	T	0.64803	-0.12	4.56	2.52	0.30459	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.214192	0.40640	N	0.001046	T	0.54695	0.1874	M	0.78456	2.415	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.44952	-0.9294	10	0.11485	T	0.65	.	7.3158	0.26499	0.2717:0.0:0.7283:0.0	.	698	P29322	EPHA8_HUMAN	H	698	ENSP00000166244:R698H	ENSP00000166244:R698H	R	+	2	0	EPHA8	22796918	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.293000	0.33353	1.137000	0.42214	0.462000	0.41574	CGC		0.642	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22924331	G	A	22924331	3	1	104	1	0	0	0	0	1	0	0	0	5173	1087	38	1	2308	1	EPHA8	1	22924331	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	6032175	22924331	226326290	2	7106											
ATP1A2	477	broad.mit.edu	37	chr1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgactgggatgaccGgaccatgaatgatctggagg	9	7	14	11	3	1	3	0	3	1	0	2	7	1	6	4	4	0	0	4	4	1	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:160106465G>A	ENST00000361216.3	+	19	2758	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R890Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	890					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552																																						uc001fvc.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2668-2670)cGg>cAg		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							97	87	91					1																	160106465		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106465G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2669G>A	1.37:g.160106465G>A	ENSP00000354490:p.Arg890Gln					ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	p.R890Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		18	2801	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		890					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2669G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367881|3.367881	0.61513|0.61513	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.88664	.|-2.41;-2.41	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79441|0.79441	0.4446|0.4446	L|L	0.43757|0.43757	1.38|1.38	0.48452|0.48452	D|D	0.999657|0.999657	.|B;B	.|0.18610	.|0.029;0.015	.|B;B	.|0.15870	.|0.013;0.014	T|T	0.76353|0.76353	-0.2990|-0.2990	5|10	.|0.38643	.|T	.|0.18	.|.	15.5314|15.5314	0.75964|0.75964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|790;890	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	R|Q	584|890;890;593	.|ENSP00000354490:R890Q;ENSP00000376066:R890Q	.|ENSP00000354490:R890Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158373089|158373089	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.368000|4.368000	0.59505|0.59505	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.552	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		A	160106465	G	A	160106465	3	1	104	1	0	0	0	0	1	0	0	0	1129	1116	39	2	2743	2	ATP1A2	1	160106465	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	137182134	160106465	89144156	3	7107											
SLC26A9	115019	broad.mit.edu	37	chr1	205897957	205897957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccacctggactcacccGcgttggatttctcccacgat	6	10	10	15	3	2	0	1	0	1	0	3	3	2	2	4	3	0	1	4	3	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:205897957G>A	ENST00000367135.3	-	8	1064	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_ENST00000340781.4_Silent_p.R317R|SLC26A9_ENST00000367134.2_Silent_p.R317R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	317					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577																																						uc001hdp.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(949-951)cgC>cgT		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.							66	59	61					1																	205897957		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897957G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.951C>T	1.37:g.205897957G>A						SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.R317R	p.R317R	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		7	1065	-	Breast(84;0.201)		317					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.951C>T	CCDS30990.1																																																																																				0.577	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		A	205897957	G	A	205897957	2	1	104	1	0	0	0	0	0	0	0	1	14524	1074	38	1		1	SLC26A9	1	205897957	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	45791492	205897957	43352664	4	7108											
RYR2	6262	broad.mit.edu	37	chr1	237659969	237659969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggatattctccctaccCtggagggggcgaagagtggg	9	8	16	8	1	1	2	0	1	1	1	2	5	1	4	2	5	1	0	2	5	4	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:237659969C>A	ENST00000366574.2	+	20	2437	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H	RYR2_ENST00000360064.6_Missense_Mutation_p.P705H|RYR2_ENST00000542537.1_Missense_Mutation_p.P691H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	707	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTCCCTACCCTGGAGGGGGC	0.507																																						uc001hyl.1																			0		p.G707A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2119-2121)cCt>cAt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							120	126	124					1																	237659969		1940	4144	6084	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659969C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2120C>A	1.37:g.237659969C>A	ENSP00000355533:p.Pro707His						p.P707H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		19	2240	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	707			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2120C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124568	0.94429	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97480	-4.4;-4.37;-4.38	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000005	D	0.98877	0.9620	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99243	1.0885	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	707	Q92736	RYR2_HUMAN	H	707;705;691	ENSP00000355533:P707H;ENSP00000353174:P705H;ENSP00000443798:P691H	ENSP00000353174:P705H	P	+	2	0	RYR2	235726592	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	CCT		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237659969	C	A	237659969	3	1	104	1	0	0	0	0	1	0	0	0	13769	681	24	5	2198	5	RYR2	1	237659969	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	31762012	237659969	11590652	5	7109											
EPAS1	2034	broad.mit.edu	37	chr2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaagctgaagctgaagcGacagctggagtatgaagagc	15	5	13	8	1	0	4	0	3	0	1	0	6	0	5	0	1	6	4	0	1	6	1	rs376653305		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617																																						uc002ruv.3																			2	Substitution - Missense(2)	p.R710Q(4)|p.R710*(1)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2128-2130)cGa>cAa		Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.		G	GLN/ARG	0,4406		0,0,2203	47	46	46		2129	4.9	1	2		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPAS1	NM_001430.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	710/871	46608818	1,13005	2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46608818G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2129G>A	2.37:g.46608818G>A	ENSP00000263734:p.Arg710Gln					EPAS1_uc002ruw.3_Missense_Mutation_p.R176Q	p.R710Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2639	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	710					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2129G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013424	0.93346	0.0	1.16E-4	ENSG00000116016	ENST00000263734	T	0.55930	0.49	4.87	4.87	0.63330	.	0.769625	0.12075	N	0.501828	T	0.70090	0.3184	L	0.52905	1.665	0.36146	D	0.847128	D	0.89917	1.0	D	0.83275	0.996	T	0.74544	-0.3630	10	0.87932	D	0	.	16.202	0.82088	0.0:0.0:1.0:0.0	.	710	Q99814	EPAS1_HUMAN	Q	710	ENSP00000263734:R710Q	ENSP00000263734:R710Q	R	+	2	0	EPAS1	46462322	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.423000	0.73361	2.244000	0.73946	0.563000	0.77884	CGA		0.617	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		A	46608818	G	A	46608818	3	1	104	1	0	0	0	0	1	0	0	0	5150	1058	37	2	2179	2	EPAS1	2	46608818	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		46608818	196590555	6	7110											
GKN1	56287	broad.mit.edu	37	chr2	69207132	69207132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgacctgagcaagttcGgaaaaaacattgcaaacatg	16	8	9	8	2	0	2	0	2	0	0	2	4	0	3	1	1	4	3	1	1	5	2	rs145566771		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:69207132G>A	ENST00000377938.2	+	5	508	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	149	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GAGCAAGTTCGGAAAAAACAT	0.507																																						uc002sfc.3																			0				breast(2)|large_intestine(4)|lung(5)	11						c.(445-447)Gga>Aga		Homo sapiens gastrokine 1 (GKN1), mRNA.		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	167	121	137		445	5.3	0.4	2	dbSNP_134	137	0,8600		0,0,4300	no	missense	GKN1	NM_019617.3	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	149/200	69207132	1,13005	2203	4300	6503	SO:0001583	missense	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69207132G>A	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"BRICHOS domain containing"	23217	protein-coding gene	gene with protein product	"BRICHOS domain containing 1"	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.445G>A	2.37:g.69207132G>A	ENSP00000367172:p.Gly149Arg						p.G149R	NM_019617	NP_062563	Q9NS71	GKN1_HUMAN			4	508	+			149			BRICHOS.		Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	37	c.445G>A	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545205	0.86022	2.27E-4	0.0	ENSG00000169605	ENST00000377938	D	0.84298	-1.83	5.35	5.35	0.76521	BRICHOS (2);	0.000000	0.64402	D	0.000001	D	0.92763	0.7699	M	0.82323	2.585	0.43593	D	0.995944	D	0.89917	1.0	D	0.97110	1.0	D	0.93339	0.6708	10	0.87932	D	0	-21.7664	16.657	0.85231	0.0:0.0:1.0:0.0	.	149	Q9NS71	GKN1_HUMAN	R	149	ENSP00000367172:G149R	ENSP00000367172:G149R	G	+	1	0	GKN1	69060636	1.000000	0.71417	0.445000	0.26908	0.243000	0.25628	5.327000	0.65881	2.797000	0.96272	0.650000	0.86243	GGA		0.507	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		A	69207132	G	A	69207132	3	1	104	1	0	0	0	0	1	0	0	0	6424	1117	39	2	463	2	GKN1	2	69207132	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	22598314	69207132	173992241	7	7111											
YSK4	80122	broad.mit.edu	37	chr2	135745418	135745418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcctcttccctaactgcagGaatattgccttccttcaaat	10	14	4	13	0	2	0	1	0	1	0	5	1	5	1	4	1	3	1	4	1	4	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:135745418G>A	ENST00000375845.3	-	7	1054	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P359S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P229S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	342							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTAACTGCAGGAATATTGCCT	0.368																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1024-1026)Cct>Tct		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							61	61	61					2																	135745418		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745418G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1024C>T	2.37:g.135745418G>A	ENSP00000365005:p.Pro342Ser					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P70S|YSK4_uc002tui.4_Missense_Mutation_p.P359S	p.P342S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1055	-			342					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1024C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	2.764	-0.257243	0.05791	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70749	-0.51;-0.48;1.85	4.67	1.76	0.24704	.	0.394186	0.18696	N	0.133738	T	0.55114	0.1900	L	0.46157	1.445	0.18873	N	0.999983	B;B;B	0.33318	0.035;0.408;0.057	B;B;B	0.28784	0.027;0.094;0.012	T	0.53422	-0.8441	10	0.72032	D	0.01	.	3.5629	0.07889	0.203:0.0:0.4946:0.3024	.	229;359;342	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	S	342;229;359	ENSP00000365005:P342S;ENSP00000351140:P229S;ENSP00000376647:P359S	ENSP00000351140:P229S	P	-	1	0	YSK4	135461888	0.000000	0.05858	0.058000	0.19502	0.007000	0.05969	0.188000	0.17018	1.181000	0.42912	0.637000	0.83480	CCT		0.368	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135745418	G	A	135745418	3	1	104	1	0	0	0	0	1	0	0	0	17492	1174	41	3	2978	3	YSK4	2	135745418	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	66538286	135745418	107453955	8	7112											
RAPGEF4	11069	broad.mit.edu	37	chr2	173866027	173866027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttattatgatgcactGtgtttttatgccaaataccc	10	17	6	8	0	0	2	0	2	0	0	0	2	0	2	2	0	3	2	2	0	5	7			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:173866027G>C	ENST00000397081.3	+	17	1756	c.1613G>C	c.(1612-1614)tGt>tCt	p.C538S	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.C385S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.C367S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.C537S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.C538S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.C394S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.C385S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.C318S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	538	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGATGCACTGTGTTTTTATG	0.398																																						uc002uhv.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1612-1614)tGt>tCt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.							188	165	172					2																	173866027		1827	4085	5912	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173866027G>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1613G>C	2.37:g.173866027G>C	ENSP00000380271:p.Cys538Ser					RAPGEF4_uc002uhw.4_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	p.C538S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		16	1800	+			538			N-terminal Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1613G>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260427	0.23051	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.87	5.87	0.94306	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.129132	0.64402	D	0.000001	T	0.18341	0.0440	N	0.08118	0	0.80722	D	1	B;P;B;B	0.40619	0.015;0.724;0.003;0.002	B;B;B;B	0.36885	0.035;0.235;0.01;0.001	T	0.06899	-1.0801	10	0.15066	T	0.55	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	365;367;394;538	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	S	537;538;538;394;367;385;385;365;318	ENSP00000264111:C537S;ENSP00000380271:C538S;ENSP00000387104:C538S;ENSP00000380276:C394S;ENSP00000440135:C367S;ENSP00000440250:C385S;ENSP00000437384:C385S;ENSP00000438011:C318S	ENSP00000264111:C537S	C	+	2	0	RAPGEF4	173574273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.602000	0.74141	2.941000	0.99782	0.655000	0.94253	TGT		0.398	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		C	173866027	G	C	173866027	3	2	104	1	0	0	0	0	1	0	0	0	13046	1377	48	5	1695	5	RAPGEF4	2	173866027	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	38120609	173866027	69333346	9	7113											
GRIP2	80852	broad.mit.edu	37	chr3	14555293	14555293	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgatggacaggacacGgtcccccacctgcagcagcc	9	5	11	16	1	0	1	0	1	0	0	1	3	1	3	5	3	3	2	5	3	0	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:14555293G>A	ENST00000273083.3	-	0	1583							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACAGGACACGGTCCCCCACC	0.647																																						uc021wtn.1																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						c.(1807-1809)Cgt>Tgt		Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.							30	36	34					3																	14555293		2056	4198	6254			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555293G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555293G>A						GRIP2_uc010heh.3_Non-coding_Transcript	p.R603C	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			14	1807	-			507			PDZ 5.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1807C>T																																																																																					0.647	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		A	14555293	G	A	14555293	1	1	104	0	1	0	0	0	0	0	0	0	6788	1116	39	2		2	GRIP2	3	14555293	RNA	SNP	G	TCGA-06-6695-01A-11D-1845-08		14555293	183467137	10	7114											
SCN5A	6331	broad.mit.edu	37	chr3	38645338	38645338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttgccatggagggcGtggccaggagccgaggttcc	5	11	15	10	2	1	0	0	0	1	0	2	3	2	2	4	5	2	1	4	5	0	4	rs201024847	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:38645338G>A	ENST00000333535.4	-	12	1904	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	SCN5A_ENST00000425664.1_Silent_p.H585H|SCN5A_ENST00000450102.2_Silent_p.H585H|SCN5A_ENST00000443581.1_Silent_p.H585H|SCN5A_ENST00000414099.2_Silent_p.H585H|SCN5A_ENST00000455624.2_Silent_p.H585H|SCN5A_ENST00000451551.2_Silent_p.H585H|SCN5A_ENST00000413689.1_Silent_p.H585H|SCN5A_ENST00000423572.2_Silent_p.H585H|SCN5A_ENST00000449557.2_Silent_p.H585H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	585					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATGGAGGGCGTGGCCAGGAG	0.662													G|||	2	0.000399361	0	0	5008	,	,		15611	0.002		0	False		,,,				2504	0					uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1753-1755)caC>caT		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						77	83	81					3																	38645338		2011	4173	6184	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645338G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1755C>T	3.37:g.38645338G>A						SCN5A_uc021wvk.1_Silent_p.H585H|SCN5A_uc021wvl.1_Silent_p.H585H|SCN5A_uc021wvm.1_Silent_p.H585H|SCN5A_uc021wvn.1_Silent_p.H585H|SCN5A_uc021wvp.1_Silent_p.H585H|SCN5A_uc021wvq.1_Silent_p.H585H|SCN5A_uc021wvr.1_Silent_p.H585H|SCN5A_uc021wvs.1_Silent_p.H585H|SCN5A_uc021wvt.1_Silent_p.H585H|SCN5A_uc021wvu.1_Silent_p.H585H|SCN5A_uc021wvv.1_Silent_p.H585H|SCN5A_uc021wvj.1_Silent_p.H451H|SCN5A_uc021wvi.1_Silent_p.H451H|SCN5A_uc021wvw.1_Silent_p.H196H	p.H585H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1807	-	Medulloblastoma(35;0.163)		585					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.1755C>T	CCDS46796.1																																																																																				0.662	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38645338	G	A	38645338	2	1	104	1	0	0	0	0	0	0	0	1	13922	1136	40	1		1	SCN5A	3	38645338	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	24090045	38645338	159377092	11	7115											
CADPS	8618	broad.mit.edu	37	chr3	62423805	62423805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taacctttctatgtacatctCctcattgaccttatcacgca	10	15	3	13	1	4	1	2	1	2	0	5	1	4	1	3	0	2	2	3	0	4	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:62423805C>T	ENST00000383710.4	-	28	4100	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CADPS_ENST00000357948.3_Missense_Mutation_p.E1172K|CADPS_ENST00000283269.9_Missense_Mutation_p.E1212K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1251	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGTACATCTCCTCATTGACC	0.458																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3751-3753)Gag>Aag		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							96	90	92					3																	62423805		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423805C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3751G>A	3.37:g.62423805C>T	ENSP00000373215:p.Glu1251Lys					CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K|CADPS_uc021wzv.1_Missense_Mutation_p.E1242K	p.E1251K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	27	4111	-		Lung SC(41;0.0452)	1251			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3751G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.973671|4.973671	0.92919|0.92919	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000466621	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83348|0.83348	0.5235|0.5235	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;0.974;0.997;1.0|.	D;D;D;D|.	0.91635|.	0.979;0.969;0.98;0.999|.	D|D	0.84430|0.84430	0.0576|0.0576	10|5	0.87932|.	D|.	0|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1172;1212;1251;1256|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	K|E	1257;1251;1172;1212|151	ENSP00000373215:E1251K;ENSP00000350632:E1172K;ENSP00000283269:E1212K|.	ENSP00000283269:E1212K|.	E|G	-|-	1|2	0|0	CADPS|CADPS	62398845|62398845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.770000|7.770000	0.85390|0.85390	2.668000|2.668000	0.90789|0.90789	0.644000|0.644000	0.83932|0.83932	GAG|GGA		0.458	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		T	62423805	C	T	62423805	3	4	104	1	0	0	0	0	1	0	0	0	2570	864	30	3	322	3	CADPS	3	62423805	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	23778467	62423805	135598625	12	7116											
ADCY5	111	broad.mit.edu	37	chr3	123008753	123008753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgtaggtgctgcCgatggtcttgatcttctcca	6	12	12	11	1	3	1	0	1	3	0	4	2	3	1	3	3	3	3	3	3	1	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:123008753C>T	ENST00000462833.1	-	19	4588	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	ADCY5_ENST00000309879.5_Missense_Mutation_p.G776S|ADCY5_ENST00000491190.1_Missense_Mutation_p.G784S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1126	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TAGGTGCTGCCGATGGTCTTG	0.592																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3376-3378)Ggc>Agc		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							119	101	107					3																	123008753		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123008753C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3376G>A	3.37:g.123008753C>T	ENSP00000419361:p.Gly1126Ser					ADCY5_uc021xdd.1_Missense_Mutation_p.G776S|ADCY5_uc003egg.2_Missense_Mutation_p.G784S	p.G1126S	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	3376	-			1126			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3376G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	37	6.061333	0.97246	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	D;D;D	0.97811	-4.55;-4.55;-4.55	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.145960	0.44483	D	0.000451	D	0.98723	0.9571	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67103	0.949;0.926	D	0.99278	1.0895	10	0.56958	D	0.05	.	18.7781	0.91920	0.0:1.0:0.0:0.0	.	1126;784	O95622;B3KWA8	ADCY5_HUMAN;.	S	1126;784;776	ENSP00000419361:G1126S;ENSP00000418537:G784S;ENSP00000308685:G776S	ENSP00000308685:G776S	G	-	1	0	ADCY5	124491443	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	7.646000	0.83445	2.662000	0.90505	0.555000	0.69702	GGC		0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123008753	C	T	123008753	3	4	104	1	0	0	0	0	1	0	0	0	297	652	23	2	421	2	ADCY5	3	123008753	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	60584948	123008753	75013677	13	7117											
LRPAP1	4043	broad.mit.edu	37	chr4	3534104	3534104	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagtagcagcgccgggagCccgcgcagaaacgacctgac	11	2	14	14	5	0	2	0	1	0	1	0	4	0	3	3	1	5	4	3	1	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:3534104C>G	ENST00000500728.2	-	1	182	c.36G>C	c.(34-36)ggG>ggC	p.G12G	LRPAP1_ENST00000296325.5_5'Flank	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	12					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCCGGGAGCCCGCGCAGAA	0.706																																						uc003ghh.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(34-36)ggG>ggC		Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.							14	15	15					4																	3534104		2172	4280	6452	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3534104C>G		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.36G>C	4.37:g.3534104C>G							p.G12G	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	0	121	-			12					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.36G>C	CCDS3371.1																																																																																				0.706	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			G	3534104	C	G	3534104	2	3	104	1	0	0	0	0	0	0	0	1	8964	726	26	5		5	LRPAP1	4	3534104	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		3534104	187620172	14	7118											
OTOP1	133060	broad.mit.edu	37	chr4	4190625	4190625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgaccacaattatccaggGttcaaagccaaagacaatct	15	9	7	10	0	2	2	1	1	1	1	3	2	3	2	3	1	1	2	3	1	5	3	rs538042112		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:4190625G>T	ENST00000296358.4	-	6	1768	c.1744C>A	c.(1744-1746)Ccc>Acc	p.P582T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	582					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTATCCAGGGTTCAAAGCCA	0.463													G|||	1	0.000199681	0	0.0014	5008	,	,		30954	0		0	False		,,,				2504	0					uc003ghp.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1744-1746)Ccc>Acc		Homo sapiens otopetrin 1 (OTOP1), mRNA.							66	69	68					4																	4190625		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190625G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1744C>A	4.37:g.4190625G>T	ENSP00000296358:p.Pro582Thr						p.P582T	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1774	-			582					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1744C>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.313243	0.40895	.	.	ENSG00000163982	ENST00000296358	T	0.23147	1.92	3.59	3.59	0.41128	.	0.289243	0.33327	N	0.005021	T	0.35711	0.0941	N	0.25647	0.755	0.44447	D	0.997373	D	0.76494	0.999	D	0.72075	0.976	T	0.10965	-1.0607	10	0.30854	T	0.27	-11.9822	15.7182	0.77685	0.0:0.0:1.0:0.0	.	582	Q7RTM1	OTOP1_HUMAN	T	582	ENSP00000296358:P582T	ENSP00000296358:P582T	P	-	1	0	OTOP1	4241526	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.178000	0.58284	1.998000	0.58463	0.536000	0.68110	CCC		0.463	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4190625	G	T	4190625	3	4	104	1	0	0	0	0	1	0	0	0	11305	1261	44	5	98	5	OTOP1	4	4190625	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	656521	4190625	186963651	15	7119											
ARHGAP10	79658	broad.mit.edu	37	chr4	148944421	148944421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgttggaagatttttcGgacgccgcccgatactacat	8	13	10	10	4	0	1	0	0	0	1	1	4	0	3	2	2	2	2	2	2	3	6	rs372199389		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:148944421G>A	ENST00000336498.3	+	19	1963	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.R224Q	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1339					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGATTTTTCGGACGCCGCCC	0.488																																						uc003ilf.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1723-1725)cGg>cAg		Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	75	74	74		1724	5.7	1	4		74	0,8600		0,0,4300	no	missense	ARHGAP10	NM_024605.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	575/787	148944421	1,13005	2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944421G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1724G>A	4.37:g.148944421G>A	ENSP00000336923:p.Arg575Gln					ARHGAP10_uc003ilg.3_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.3_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.3_Missense_Mutation_p.R8Q	p.R575Q	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	18	1724	+	all_hematologic(180;0.151)	Renal(17;0.0166)	575					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1724G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530109	0.27387	2.27E-4	0.0	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.21031	2.03;2.03	5.72	5.72	0.89469	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.502419	0.21735	N	0.069902	T	0.29620	0.0739	L	0.29908	0.895	0.39632	D	0.970189	D;B;B;B	0.89917	1.0;0.055;0.059;0.052	D;B;B;B	0.79108	0.992;0.006;0.002;0.003	T	0.03483	-1.1032	10	0.25751	T	0.34	.	8.8572	0.35236	0.1256:0.0:0.8744:0.0	.	8;156;224;575	Q9H7G7;Q86T21;E7EUW5;A1A4S6	.;.;.;RHG10_HUMAN	Q	575;224	ENSP00000336923:R575Q;ENSP00000406624:R224Q	ENSP00000336923:R575Q	R	+	2	0	ARHGAP10	149163871	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.256000	0.43231	2.690000	0.91761	0.655000	0.94253	CGG		0.488	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		A	148944421	G	A	148944421	3	1	104	1	0	0	0	0	1	0	0	0	862	1116	39	2	1798	2	ARHGAP10	4	148944421	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	144753796	148944421	42209855	16	7120											
PIK3R1	5295	broad.mit.edu	37	chr5	67589149	67589151	+	In_Frame_Del	DEL	ATT	ATT	-																															aggaaagggggaaataacaaAttaatcaaaatatttcatcg																										TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:67589149_67589151delATT	ENST00000521381.1	+	10	1753_1755	c.1137_1139delATT	c.(1135-1140)aaatta>aaa	p.L380del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.L380del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.L17del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.L380del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.L80del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.L380del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.L110del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	380	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.L380del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAATAACAAATTAATCAAAATA	0.305			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.L380del(2)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1140)aaatta>aaa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589149_67589151delATT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1137_1139delATT	5.37:g.67589149_67589151delATT	ENSP00000428056:p.Leu380del	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.3_In_Frame_Del_p.L110del|PIK3R1_uc003jve.3_In_Frame_Del_p.L59del|PIK3R1_uc021xzn.1_In_Frame_Del_p.L17del|PIK3R1_uc011crb.2_In_Frame_Del_p.L50del	p.L380del	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1717_1719	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	380			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1137_1139delATT	CCDS3993.1																																																																																				0.305	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67589151	ATT	-	67589149	7	5	104	1	0	1	0	1	0	0	0	0	11918	98	4	0	1301	0	PIK3R1	5	67589149	In_Frame_Del	DEL	ATT	TCGA-06-6695-01A-11D-1845-08		67589149	113326111	17	7121											
PRR16	51334	broad.mit.edu	37	chr5	120021674	120021674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccagattgacaccctgaCctctgacctacagctggagg	10	8	10	13	0	1	5	0	4	1	1	1	6	1	6	4	2	2	1	4	2	1	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:120021674C>A	ENST00000407149.2	+	2	394	c.185C>A	c.(184-186)aCc>aAc	p.T62N	PRR16_ENST00000446965.1_5'UTR|PRR16_ENST00000505123.1_5'UTR|PRR16_ENST00000379551.2_Missense_Mutation_p.T39N			Q569H4	LARGN_HUMAN	proline rich 16	62					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GACACCCTGACCTCTGACCTA	0.443																																						uc003ksq.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(184-186)aCc>aAc		Homo sapiens proline rich 16 (PRR16), mRNA.							93	85	88					5																	120021674		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021674C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.185C>A	5.37:g.120021674C>A	ENSP00000385118:p.Thr62Asn					PRR16_uc003ksp.3_Missense_Mutation_p.T39N|PRR16_uc003ksr.3_5'UTR	p.T62N	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	1	348	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	62					D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.185C>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.255375	0.80135	.	.	ENSG00000184838	ENST00000407149;ENST00000379551	T;T	0.61274	0.12;0.12	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71721	-0.4507	9	.	.	.	-6.2379	17.7817	0.88526	0.0:1.0:0.0:0.0	.	62;39	Q569H4;Q569H4-3	PRR16_HUMAN;.	N	62;39	ENSP00000385118:T62N;ENSP00000368869:T39N	.	T	+	2	0	PRR16	120049573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.383000	0.79741	2.568000	0.86640	0.555000	0.69702	ACC		0.443	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		A	120021674	C	A	120021674	3	1	104	1	0	0	0	0	1	0	0	0	12589	507	18	5	122	5	PRR16	5	120021674	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	52432525	120021674	60893586	18	7122											
MATR3	9782	broad.mit.edu	37	chr5	138658286	138658286	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtgtccttttgatttcaGaaaaagatcttactctccag	10	15	8	8	0	3	3	1	1	2	2	5	3	4	3	2	1	1	0	2	1	3	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:138658286G>A	ENST00000394805.3	+	12	2113		c.e12-1		MATR3_ENST00000509990.1_Splice_Site|MATR3_ENST00000510056.1_Splice_Site|MATR3_ENST00000503811.1_Splice_Site|MATR3_ENST00000502499.1_Splice_Site|MATR3_ENST00000504203.1_Splice_Site|MATR3_ENST00000394800.2_Splice_Site|MATR3_ENST00000502929.1_Splice_Site|MATR3_ENST00000361059.2_Splice_Site	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3						cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGATTTCAGAAAAAGATCT	0.338																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.e13-1		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							76	79	78					5																	138658286		2202	4299	6501	SO:0001630	splice_region_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138658286G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1779-1G>A	5.37:g.138658286G>A						MATR3_uc003ldt.3_Splice_Site_p.R255_splice|MATR3_uc003ldu.3_Splice_Site_p.R593_splice|MATR3_uc010jfb.3_Splice_Site_p.R593_splice|MATR3_uc003ldx.3_Splice_Site_p.R593_splice|MATR3_uc003ldy.3_Splice_Site_p.R270_splice|MATR3_uc003ldz.3_Splice_Site_p.R593_splice|MATR3_uc011czb.2_Splice_Site_p.R305_splice|MATR3_uc003leb.3_Splice_Site_p.R255_splice|MATR3_uc003lec.3_Splice_Site_p.R270_splice	p.R593_splice	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	2182	+			593					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Splice_Site	SNP	ENST00000394805.3	37	c.1779_splice	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555612	0.27739	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MATR3	138686185	1.000000	0.71417	0.953000	0.39169	0.209000	0.24338	6.551000	0.73909	2.596000	0.87737	0.655000	0.94253	.		0.338	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	Intron	A	138658286	G	A	138658286	5	1	104	1	0	0	0	0	0	0	1	0	9337	956	33	3	1820	3	MATR3	5	138658286	Splice_Site	SNP	G	TCGA-06-6695-01A-11D-1845-08	18636612	138658286	42256974	19	7123											
ARSI	340075	broad.mit.edu	37	chr5	149677472	149677472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgcccggcttgtccGttgctttcgcttgagcaggg	4	12	13	12	3	1	1	1	1	0	0	3	1	2	1	2	2	3	5	2	2	0	4	rs149628658		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:149677472G>A	ENST00000328668.7	-	2	1594	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	339					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTTGTCCGTTGCTTTCGC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		20500	0		0	False		,,,				2504	0					uc003lrv.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1015-1017)Cgg>Tgg		Homo sapiens arylsulfatase family, member I (ARSI), mRNA.		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	38	39	38		1015	-1.3	0.9	5	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ARSI	NM_001012301.2	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	339/570	149677472	4,13002	2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677472G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1015C>T	5.37:g.149677472G>A	ENSP00000333395:p.Arg339Trp						p.R339W	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1604	-			339					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1015C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110403	0.37242	6.81E-4	1.16E-4	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98889	-5.21;-5.21	4.46	-1.34	0.09143	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.89030	3	0.41301	D	0.987048	D	0.76494	0.999	P	0.62885	0.908	D	0.97337	0.9954	10	0.54805	T	0.06	.	6.9485	0.24532	0.152:0.0:0.3441:0.5039	.	339	Q5FYB1	ARSI_HUMAN	W	339;196	ENSP00000333395:R339W;ENSP00000426879:R196W	ENSP00000333395:R339W	R	-	1	2	ARSI	149657665	0.002000	0.14202	0.917000	0.36280	0.990000	0.78478	0.622000	0.24433	-0.067000	0.12976	0.561000	0.74099	CGG		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149677472	G	A	149677472	3	1	104	1	0	0	0	0	1	0	0	0	994	1144	40	1	698	1	ARSI	5	149677472	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	11019186	149677472	31237788	20	7124											
FLT4	2324	broad.mit.edu	37	chr5	180041121	180041121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacacgtcactctgcGtggtgtacaccttgtcgaag	9	9	11	12	3	2	0	1	0	1	0	3	2	2	1	2	2	2	1	2	2	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:180041121G>A	ENST00000261937.6	-	24	3356	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M	FLT4_ENST00000393347.3_Missense_Mutation_p.T1093M|FLT4_ENST00000502649.1_Missense_Mutation_p.T1093M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1093	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCACTCTGCGTGGTGTACAC	0.622																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3277-3279)aCg>aTg		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						157	139	145					5																	180041121		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180041121G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3278C>T	5.37:g.180041121G>A	ENSP00000261937:p.Thr1093Met					FLT4_uc003mma.4_Missense_Mutation_p.T1093M	p.T1093M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3357	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1093			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3278C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504435	0.64410	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	3.57	2.69	0.31865	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87087	0.6090	L	0.55103	1.725	0.43214	D	0.995082	D;D	0.67145	0.99;0.996	D;D	0.69479	0.941;0.964	D	0.87261	0.2279	9	0.87932	D	0	.	11.3638	0.49660	0.0911:0.0:0.9089:0.0	.	1093;1093	E9PD35;P35916	.;VGFR3_HUMAN	M	1093;1093;1093;131	ENSP00000261937:T1093M;ENSP00000377016:T1093M;ENSP00000426057:T1093M;ENSP00000421535:T131M	ENSP00000261937:T1093M	T	-	2	0	FLT4	179973727	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	4.799000	0.62517	1.062000	0.40625	0.542000	0.68232	ACG		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180041121	G	A	180041121	3	1	104	1	0	0	0	0	1	0	0	0	5944	1145	40	1	849	1	FLT4	5	180041121	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	30363649	180041121	874139	21	7125											
DNAH8	1769	broad.mit.edu	37	chr6	38704949	38704949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgcaacaaacaactgggGtgctttaaaccagtccaagc	13	9	8	11	0	1	0	0	0	1	0	2	0	2	0	2	2	7	2	2	2	6	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:38704949G>T	ENST00000359357.3	+	4	472	c.218G>T	c.(217-219)gGt>gTt	p.G73V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G290V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G73V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	73					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAACTGGGGTGCTTTAAAC	0.353																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(868-870)gGt>gTt		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							92	96	94					6																	38704949		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38704949G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.218G>T	6.37:g.38704949G>T	ENSP00000352312:p.Gly73Val					DNAH8_uc003ooe.2_Missense_Mutation_p.G73V	p.G290V	NM_001206927	NP_001193856					5	978	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.869G>T		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197911	0.58126	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.30714	1.52;1.61;1.54	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.77313	2.365	0.80722	D	1	P	0.36412	0.552	B	0.38500	0.275	T	0.19943	-1.0290	10	0.54805	T	0.06	.	17.2595	0.87066	0.0:0.0:1.0:0.0	.	73	Q96JB1	DYH8_HUMAN	V	278;278;73;73	ENSP00000333363:G278V;ENSP00000352312:G73V;ENSP00000402294:G73V	ENSP00000333363:G278V	G	+	2	0	DNAH8	38812927	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.339000	0.79282	2.565000	0.86533	0.591000	0.81541	GGT		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38704949	G	T	38704949	3	4	104	1	0	0	0	0	1	0	0	0	4607	1261	44	5	224	5	DNAH8	6	38704949	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		38704949	132410118	22	7126											
PKHD1	5314	broad.mit.edu	37	chr6	51900449	51900449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgacattgatggcacaCgagtaagatccaaataatat	16	9	9	7	2	0	2	0	1	0	1	1	4	1	2	1	1	1	3	1	1	5	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:51900449C>T	ENST00000371117.3	-	28	3443	c.3168G>A	c.(3166-3168)tcG>tcA	p.S1056S	PKHD1_ENST00000340994.4_Silent_p.S1056S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1056	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGATGGCACACGAGTAAGATC	0.453																																						uc003pah.1																			0		p.S1056W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3166-3168)tcG>tcA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							144	131	135					6																	51900449		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900449C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3168G>A	6.37:g.51900449C>T						PKHD1_uc003pai.3_Silent_p.S1056S	p.S1056S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3444	-	Lung NSC(77;0.0605)		1056			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3168G>A	CCDS4935.1																																																																																				0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51900449	C	T	51900449	2	4	104	1	0	0	0	0	0	0	0	1	11971	523	19	1		1	PKHD1	6	51900449	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08	13195500	51900449	119214618	23	7127											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604661	62604661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactggaagcgctccaCgggttacagtgcttccccga	7	8	13	13	3	0	0	0	0	0	0	2	2	2	1	3	3	3	4	3	3	2	2	rs374827571		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:62604661C>T	ENST00000281156.4	-	6	967	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	230	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCGCTCCACGGGTTACAGT	0.627													C|||	1	0.000199681	0	0	5008	,	,		14039	0.001		0	False		,,,				2504	0					uc003peg.2																			0		p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(688-690)cGt>cAt		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.		C	HIS/ARG	0,4406		0,0,2203	46	47	47		689	5.5	1	6		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	KHDRBS2	NM_152688.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	230/350	62604661	1,13005	2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604661C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.689G>A	6.37:g.62604661C>T	ENSP00000281156:p.Arg230His						p.R230H	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	936	-			230			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.689G>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412568	0.62511	0.0	1.16E-4	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.50001	0.76	5.52	5.52	0.82312	.	0.056069	0.85682	D	0.000000	T	0.39545	0.1082	M	0.71206	2.165	0.46044	D	0.998834	B	0.31193	0.312	B	0.25140	0.058	T	0.43621	-0.9380	10	0.59425	D	0.04	-3.1157	19.7889	0.96450	0.0:1.0:0.0:0.0	.	230	Q5VWX1	KHDR2_HUMAN	H	230	ENSP00000281156:R230H	ENSP00000281156:R230H	R	-	2	0	KHDRBS2	62662620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.138000	0.71717	2.734000	0.93682	0.655000	0.94253	CGT		0.627	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		T	62604661	C	T	62604661	3	4	104	1	0	0	0	0	1	0	0	0	8147	536	19	1	376	1	KHDRBS2	6	62604661	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	10704212	62604661	108510406	24	7128											
BCKDHB	594	broad.mit.edu	37	chr6	80881059	80881059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtcatgcatagaggatAaaaatccttgtatatttttt	12	19	6	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	2	1	1	6	10			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:80881059A>G	ENST00000320393.6	+	6	741	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.K232E	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	232					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATAGAGGATAAAAATCCTTG	0.294																																						uc003pjd.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(694-696)Aaa>Gaa		Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							30	36	34					6																	80881059		2200	4297	6497	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80881059A>G	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.694A>G	6.37:g.80881059A>G	ENSP00000318351:p.Lys232Glu					BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	p.K232E	NM_000056	NP_898871	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	761	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	232					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.694A>G	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060325	0.36373	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91237	-2.81;-2.81	5.66	5.66	0.87406	Transketolase-like, pyrimidine-binding domain (2);	0.193386	0.53938	D	0.000059	T	0.72653	0.3487	N	0.10760	0.04	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.69932	-0.5011	10	0.33141	T	0.24	-15.2407	15.082	0.72122	1.0:0.0:0.0:0.0	.	232	P21953	ODBB_HUMAN	E	232;232;162	ENSP00000318351:K232E;ENSP00000348880:K232E	ENSP00000318351:K232E	K	+	1	0	BCKDHB	80937778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.520000	0.53465	2.173000	0.68751	0.533000	0.62120	AAA		0.294	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		G	80881059	A	G	80881059	3	3	104	1	0	0	0	0	1	0	0	0	1360	363	13	4	716	4	BCKDHB	6	80881059	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	18276398	80881059	90234008	25	7129											
AIM1	202	broad.mit.edu	37	chr6	106999811	106999811	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttttgaggactggggAggcaaaaattgtaagatctc	13	10	12	6	0	1	2	0	1	1	1	2	4	1	4	1	4	0	3	1	4	3	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:106999811A>T	ENST00000369066.3	+	12	4660	c.4173A>T	c.(4171-4173)ggA>ggT	p.G1391G	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Silent_p.G210G	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGACTGGGGAGGCAAAAATT	0.338																																						uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4171-4173)ggA>ggT		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							95	104	101					6																	106999811		2203	4299	6502	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106999811A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4173A>T	6.37:g.106999811A>T						AIM1_uc003pri.3_Silent_p.G195G	p.G1391G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	11	5085	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1391			Beta/gamma crystallin 'Greek key' 8.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.4173A>T	CCDS34506.1																																																																																				0.338	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106999811	A	T	106999811	2	4	104	1	0	0	0	0	0	0	0	1	430	291	11	5		5	AIM1	6	106999811	Silent	SNP	A	TCGA-06-6695-01A-11D-1845-08	26118752	106999811	64115256	26	7130											
C7orf36	57002	broad.mit.edu	37	chr7	39612016	39612016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactccaccgtcccatgttgTagatttattggactccattg	8	14	7	12	1	0	1	0	0	0	1	3	2	3	2	4	1	0	2	4	1	2	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:39612016T>C	ENST00000223273.2	+	3	435	c.392T>C	c.(391-393)gTa>gCa	p.V131A	YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	131																	TCCCATGTTGTAGATTTATTG	0.373																																						uc003thc.4																			0											c.(391-393)gTa>gCa		Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.							137	127	130					7																	39612016		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39612016T>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.392T>C	7.37:g.39612016T>C	ENSP00000223273:p.Val131Ala						p.V131A	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			2	407	+			131					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.392T>C	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	T	8.897	0.955381	0.18507	.	.	ENSG00000241127	ENST00000223273	T	0.41758	0.99	5.93	-2.62	0.06152	.	0.654468	0.16402	N	0.215964	T	0.28333	0.0700	L	0.47716	1.5	0.53005	D	0.999965	B	0.15473	0.013	B	0.10450	0.005	T	0.20240	-1.0281	10	0.11794	T	0.64	-13.4813	9.8796	0.41225	0.0:0.1441:0.5609:0.295	.	131	Q9NRH1	CG036_HUMAN	A	131	ENSP00000223273:V131A	ENSP00000223273:V131A	V	+	2	0	C7orf36	39578541	0.996000	0.38824	0.875000	0.34327	0.987000	0.75469	0.387000	0.20718	-0.049000	0.13379	0.533000	0.62120	GTA		0.373	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		C	39612016	T	C	39612016	3	2	104	1	0	0	0	0	1	0	0	0	2390	1638	57	4	402	4	C7orf36	7	39612016	Missense_Mutation	SNP	T	TCGA-06-6695-01A-11D-1845-08		39612016	119526647	27	7131											
SPDYE1	285955	broad.mit.edu	37	chr7	44046879	44046879	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctacctggccaaTgacatggaggaggacgacga	11	6	13	11	2	1	1	1	1	0	0	2	6	2	4	3	4	2	1	3	4	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:44046879T>C	ENST00000258704.3	+	5	782	c.645T>C	c.(643-645)aaT>aaC	p.N215N	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	215										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACCTGGCCAATGACATGGAGG	0.567																																						uc003tjf.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(643-645)aaT>aaC		Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.							93	93	93					7																	44046879		2203	4296	6499	SO:0001819	synonymous_variant	285955							g.chr7:44046879T>C	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"Speedy homologs"	16408	protein-coding gene	gene with protein product	"Speedy E"		"Williams Beuren syndrome chromosome region 19", "speedy homolog E1 (Xenopus laevis)"	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.645T>C	7.37:g.44046879T>C						POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	p.N215N	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN			4	781	+			215					Q9NTH5	Silent	SNP	ENST00000258704.3	37	c.645T>C	CCDS5475.1																																																																																				0.567	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		C	44046879	T	C	44046879	2	2	104	1	0	0	0	0	0	0	0	1	15028	1461	51	4		4	SPDYE1	7	44046879	Silent	SNP	T	TCGA-06-6695-01A-11D-1845-08	4434863	44046879	115091784	28	7132											
EGFR	1956	broad.mit.edu	37	chr7	55249017	55249018	+	In_Frame_Ins	INS	-	-	CCACGT																															atggccagcgtggacaacccINSccacgtgtgccgcctgctgg																								rs397517116|rs121913445|rs397517115		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:55249017_55249018insCCACGT	ENST00000275493.2	+	20	2492_2493	c.2315_2316insCCACGT	c.(2314-2319)ccccac>ccCCACGTccac	p.773_774insVH	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_In_Frame_Ins_p.728_729insVH|EGFR_ENST00000454757.2_In_Frame_Ins_p.720_721insVH|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.P772_H773insV(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772P(1)|p.P772R(1)|p.D770_P772>ASVDNR(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGGACAACCCCCACGTGTGCC	0.644		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		10	Insertion - In frame(5)|Complex - insertion inframe(3)|Substitution - Missense(1)|Substitution - coding silent(1)	p.H773_V774insNPH(15)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.P772_H773insX(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.C775Y(2)|p.P772_H773insYNP(2)|p.P772_H773insV(2)|p.H773L(2)|p.H773Y(2)|p.P772_H773insTHP(2)|p.P772_H773insHV(2)|p.H773>NPY(2)|p.C775R(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)|p.V774L(1)|p.P772_H773insDHP(1)|p.P772_H773insDNP(1)|p.P772_H773insQV(1)|p.N771_P772>SVDNR(1)|p.H773_V774>LM(1)|p.P772P(1)|p.P772R(1)	lung(9)|ovary(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2314-2316)ccc>ccCCACGTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001652	inframe_insertion	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249017_55249018insCCACGT		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2316_2321dupCCACGT	7.37:g.55249018_55249023dupCCACGT	ENSP00000275493:p.His773_Val774insValHis	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_In_Frame_Ins_p.774_775insHV|EGFR_uc010kzg.2_In_Frame_Ins_p.729_730insHV|EGFR_uc022adn.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.2_In_Frame_Ins_p.721_722insHV|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.9_10insHV	p.774_775insHV	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2561_2562	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		774			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Ins	INS	ENST00000275493.2	37	c.2315_2316insCCACGT	CCDS5514.1																																																																																				0.644	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		CCACGT	55249018	-	CCACGT	55249017	7	5	104	1	0	1	1	0	0	0	0	0	4967	623	22	0	2657	0	EGFR	7	55249017	In_Frame_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08	11202138	55249017	103889646	29	7133											
CLDN4	1364	broad.mit.edu	37	chr7	73245947	73245947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgccggtgtcctggaCggcccacaacatcatccaag	10	7	11	13	2	1	0	1	0	0	0	3	2	3	1	4	3	2	0	4	3	3	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:73245947C>T	ENST00000435050.1	+	2	3096	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CLDN4_ENST00000431918.1_Missense_Mutation_p.T139M|CLDN4_ENST00000340958.2_Missense_Mutation_p.T139M			O14493	CLD4_HUMAN	claudin 4	139					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTCCTGGACGGCCCACAAC	0.632																																						uc003tzi.4																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(415-417)aCg>aTg		Homo sapiens claudin 4 (CLDN4), mRNA.							94	85	88					7																	73245947		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245947C>T	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"Claudins"	2046	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 1", "Williams-Beuren syndrome chromosomal region 8 protein"	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.416C>T	7.37:g.73245947C>T	ENSP00000409544:p.Thr139Met					CLDN4_uc003tzh.1_Non-coding_Transcript	p.T139M	NM_001305	NP_001296	O14493	CLD4_HUMAN			0	755	+		Lung NSC(55;0.159)	139						Missense_Mutation	SNP	ENST00000435050.1	37	c.416C>T	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418114	0.62622	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88509	-2.39;-2.39;-2.39	5.5	5.5	0.81552	.	0.239601	0.42964	D	0.000633	D	0.88894	0.6561	M	0.66439	2.03	0.41689	D	0.989335	P	0.46987	0.888	B	0.43386	0.418	D	0.88471	0.3062	10	0.35671	T	0.21	.	16.8934	0.86093	0.0:1.0:0.0:0.0	.	139	O14493	CLD4_HUMAN	M	139;139;139;126	ENSP00000409544:T139M;ENSP00000388639:T139M;ENSP00000342445:T139M	ENSP00000342445:T139M	T	+	2	0	CLDN4	72883883	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.974000	0.63771	2.598000	0.87819	0.655000	0.94253	ACG		0.632	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		T	73245947	C	T	73245947	3	4	104	1	0	0	0	0	1	0	0	0	3487	536	19	1	418	1	CLDN4	7	73245947	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	17996930	73245947	85892716	30	7134											
SAMD9	54809	broad.mit.edu	37	chr7	92733004	92733004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatagacattatcttgttCttcaaaatcatcaacaagga	17	12	5	7	0	5	2	3	0	2	2	5	3	5	3	0	1	1	1	0	1	7	5	rs541996783	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:92733004C>T	ENST00000379958.2	-	3	2676	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	803						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTATCTTGTTCTTCAAAATCA	0.353																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2407-2409)Gaa>Aaa		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							95	93	94					7																	92733004		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92733004C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2407G>A	7.37:g.92733004C>T	ENSP00000369292:p.Glu803Lys					SAMD9_uc003umg.3_Missense_Mutation_p.E803K|SAMD9_uc022ahg.1_Missense_Mutation_p.E803K	p.E803K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	2677	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		803					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2407G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167766	0.57476	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.81415	-1.49;-1.49	4.44	3.56	0.40772	.	0.251641	0.30989	U	0.008468	T	0.77294	0.4109	M	0.67953	2.075	0.32319	N	0.562659	B	0.25235	0.121	B	0.21708	0.036	T	0.80113	-0.1518	10	0.72032	D	0.01	.	11.1109	0.48232	0.0:0.9081:0.0:0.0919	.	803	Q5K651	SAMD9_HUMAN	K	803	ENSP00000369292:E803K;ENSP00000414529:E803K	ENSP00000369292:E803K	E	-	1	0	SAMD9	92570940	1.000000	0.71417	0.986000	0.45419	0.454000	0.32378	3.459000	0.53021	1.092000	0.41356	0.609000	0.83330	GAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92733004	C	T	92733004	3	4	104	1	0	0	0	0	1	0	0	0	13826	922	32	3	2366	3	SAMD9	7	92733004	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	19487057	92733004	66405659	31	7135											
GIMAP4	55303	broad.mit.edu	37	chr7	150269429	150269429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacacaccaggcattttcGacacagaggtgcccaatgct	11	9	9	12	1	0	2	0	1	0	1	1	3	0	2	2	2	2	2	2	2	1	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:150269429G>A	ENST00000255945.2	+	3	446	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GIMAP4_ENST00000461940.1_Missense_Mutation_p.D105N|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	91	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCATTTTCGACACAGAGGT	0.507																																						uc003whl.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(271-273)Gac>Aac		Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.							115	100	105					7																	150269429		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269429G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.271G>A	7.37:g.150269429G>A	ENSP00000255945:p.Asp91Asn					GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.D105N	p.D91N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	353	+			91						Missense_Mutation	SNP	ENST00000255945.2	37	c.271G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485988	0.44147	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.08193	3.12;3.12;3.12	4.61	3.73	0.42828	AIG1 (1);	0.102316	0.64402	N	0.000003	T	0.21103	0.0508	M	0.79475	2.455	0.43503	D	0.995751	D;D	0.69078	0.997;0.995	P;P	0.57468	0.696;0.821	T	0.00756	-1.1579	10	0.66056	D	0.02	.	8.4982	0.33141	0.1059:0.0:0.8941:0.0	.	105;91	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	N	91;105;105	ENSP00000255945:D91N;ENSP00000419545:D105N;ENSP00000418615:D105N	ENSP00000255945:D91N	D	+	1	0	GIMAP4	149900362	0.998000	0.40836	0.382000	0.26119	0.024000	0.10985	3.338000	0.52128	1.181000	0.42912	0.655000	0.94253	GAC		0.507	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		A	150269429	G	A	150269429	3	1	104	1	0	0	0	0	1	0	0	0	6381	1058	37	2	277	2	GIMAP4	7	150269429	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	57536425	150269429	8869234	32	7136											
EPPK1	83481	broad.mit.edu	37	chr8	144940800	144940800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcctccatgagctcttGcgtcgtgctccgtcccgttt	2	14	10	15	5	1	1	0	1	1	0	7	1	5	1	4	0	3	3	4	0	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr8:144940800G>C	ENST00000525985.1	-	2	6693	c.6622C>G	c.(6622-6624)Caa>Gaa	p.Q2208E				P58107	EPIPL_HUMAN	epiplakin 1	2208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGAGCTCTTGCGTCGTGCTC	0.622																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6622-6624)Caa>Gaa		Homo sapiens epiplakin 1 (EPPK1), mRNA.							160	165	164					8																	144940800		2043	4179	6222	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940800G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6622C>G	8.37:g.144940800G>C	ENSP00000436337:p.Gln2208Glu						p.Q2208E	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6635	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2208					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6622C>G		.	.	.	.	.	.	.	.	.	.	G	0.321	-0.961876	0.02249	.	.	ENSG00000227184	ENST00000525985	T	0.68025	-0.3	4.36	-1.27	0.09347	.	.	.	.	.	T	0.47135	0.1429	N	0.17278	0.47	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32375	-0.9909	9	0.02654	T	1	.	18.864	0.92283	0.0:0.7551:0.2449:0.0	.	2208	E9PPU0	.	E	2208	ENSP00000436337:Q2208E	ENSP00000436337:Q2208E	Q	-	1	0	EPPK1	145012788	0.021000	0.18746	0.000000	0.03702	0.003000	0.03518	0.923000	0.28757	-0.371000	0.08004	0.585000	0.79938	CAA		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		C	144940800	G	C	144940800	3	2	104	1	0	0	0	0	1	0	0	0	5190	1328	46	5	644	5	EPPK1	8	144940800	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		144940800	1423222	33	7137											
FAM75C1	441452	broad.mit.edu	37	chr9	90536103	90536103	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccaaaaatctcaggaCgtctttagtgtctccactcc	10	11	8	12	1	3	0	1	0	3	0	7	1	5	1	3	2	0	0	3	2	3	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:90536103C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATCTCAGGACGTCTTTAGTG	0.493																																						uc010mqi.3																			0											c.(1279-1281)gaC>gaT		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							2	2	2					9																	90536103		483	1206	1689			441452							g.chr9:90536103C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536103C>T						FAM75C1_uc004apq.4_Silent_p.D410D	p.D427D	NM_001145124	NP_001138596					3	1310	+									Silent	SNP	ENST00000602681.1	37	c.1281C>T																																																																																					0.493	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		T	90536103	C	T	90536103	1	4	104	0	1	0	0	0	0	0	0	0	5623	535	19	1		1	FAM75C1	9	90536103	RNA	SNP	C	TCGA-06-6695-01A-11D-1845-08		90536103	50677328	34	7138											
GFI1B	8328	broad.mit.edu	37	chr9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaagtgccaggtgtgcGgaaaggccttcagccagagc	10	5	14	12	2	1	1	1	0	0	1	1	2	1	2	3	3	4	1	3	3	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:135866288G>A	ENST00000339463.3	+	11	1663	c.844G>A	c.(844-846)Gga>Aga	p.G282R	GFI1B_ENST00000372122.1_Missense_Mutation_p.G282R|GFI1B_ENST00000534944.1_Missense_Mutation_p.G236R|GFI1B_ENST00000450530.1_Missense_Mutation_p.G282R|GFI1B_ENST00000372123.1_Missense_Mutation_p.G236R|GFI1B_ENST00000372124.1_Missense_Mutation_p.G236R			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	282	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647																																						uc004ccg.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(844-846)Gga>Aga		Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.							88	74	79					9																	135866288		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866288G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.844G>A	9.37:g.135866288G>A	ENSP00000344782:p.Gly282Arg					GFI1B_uc010mzy.3_Missense_Mutation_p.G236R	p.G282R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	6	1199	+			282			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.844G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431390	0.83776	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	T	0.62407	-0.6861	10	0.87932	D	0	-15.5286	17.4238	0.87521	0.0:0.0:1.0:0.0	.	236;282	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	R	236;282;282;236;236;282	ENSP00000361197:G236R;ENSP00000344782:G282R;ENSP00000409546:G282R;ENSP00000446134:G236R;ENSP00000361196:G236R;ENSP00000361195:G282R	ENSP00000344782:G282R	G	+	1	0	GFI1B	134856109	1.000000	0.71417	0.746000	0.31095	0.642000	0.38348	9.813000	0.99286	2.425000	0.82216	0.462000	0.41574	GGA		0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		A	135866288	G	A	135866288	3	1	104	1	0	0	0	0	1	0	0	0	6340	1117	39	2	866	2	GFI1B	9	135866288	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	45330185	135866288	5347143	35	7139											
ADARB2	105	broad.mit.edu	37	chr10	1284235	1284235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagaggaagtgcaggaaCgcccgccgggccacgacctc	9	4	15	13	4	0	1	0	0	0	1	1	4	0	3	4	3	2	2	4	3	3	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:1284235C>T	ENST00000381312.1	-	5	1645	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	440	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGTGCAGGAACGCCCGCCGGG	0.706																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1318-1320)gcG>gcA		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							28	26	27					10																	1284235		2200	4295	6495	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1284235C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1320G>A	10.37:g.1284235C>T							p.A440A	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1646	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	440			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1320G>A	CCDS7058.1																																																																																				0.706	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		T	1284235	C	T	1284235	2	4	104	1	0	0	0	0	0	0	0	1	283	523	19	1		1	ADARB2	10	1284235	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		1284235	134250512	36	7140											
C10orf71	118461	broad.mit.edu	37	chr10	50530623	50530623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataagaagtgcacagacgcGttcagcgactcctccagcat	13	7	9	12	3	1	2	1	0	0	2	3	3	3	2	2	0	3	3	2	0	3	2	rs370127754		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:50530623G>A	ENST00000374144.3	+	3	321	c.33G>A	c.(31-33)gcG>gcA	p.A11A	C10orf71_ENST00000323868.4_Silent_p.A11A			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	11								p.A11A(2)		endometrium(1)	1						GCACAGACGCGTTCAGCGACT	0.542																																						uc021pqb.1																			2	Substitution - coding silent(2)	p.A11A(2)	large_intestine(2)	endometrium(1)	1						c.(31-33)gcG>gcA		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.		G	,	1,4305		0,1,2152	38	41	40		33,33	-3	0.9	10		40	0,8500		0,0,4250	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,1,6402	AA,AG,GG		0.0,0.0232,0.0078	,	11/1436,11/720	50530623	1,12805	2153	4250	6403	SO:0001819	synonymous_variant	118461							g.chr10:50530623G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.33G>A	10.37:g.50530623G>A						C10orf71_uc021pqa.1_Silent_p.A10A|C10orf71_uc021pqc.1_Silent_p.A11A	p.A11A	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN			0	33	+			11					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.33G>A	CCDS44387.1																																																																																				0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50530623	G	A	50530623	2	1	104	1	0	0	0	0	0	0	0	1	1614	1132	40	1		1	C10orf71	10	50530623	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	49246388	50530623	85004124	37	7141											
ANK3	288	broad.mit.edu	37	chr10	62149275	62149275	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatccctgtttttctttaAttgtgaggctgcatgagcca	9	16	8	8	0	1	2	0	2	1	0	2	2	2	2	2	1	2	3	2	1	3	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:62149275A>C	ENST00000280772.2	-	1	213	c.22T>G	c.(22-24)Tta>Gta	p.L8V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	8					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTTCTTTAATTGTGAGGCT	0.423																																						uc001jky.3																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(22-24)Tta>Gta		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							137	134	135					10																	62149275		2203	4299	6502	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62149275A>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.22T>G	10.37:g.62149275A>C	ENSP00000280772:p.Leu8Val					ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron	p.L8V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			0	360	-			8					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.22T>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979635	0.34942	.	.	ENSG00000151150	ENST00000280772	T	0.64438	-0.1	5.74	3.42	0.39159	.	.	.	.	.	T	0.57066	0.2028	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.59611	-0.7422	9	0.66056	D	0.02	.	7.7949	0.29141	0.7734:0.0:0.2266:0.0	.	8	Q12955	ANK3_HUMAN	V	8	ENSP00000280772:L8V	ENSP00000280772:L8V	L	-	1	2	ANK3	61819281	0.747000	0.28283	0.995000	0.50966	0.993000	0.82548	0.445000	0.21677	0.459000	0.27016	0.533000	0.62120	TTA		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	62149275	A	C	62149275	3	2	104	1	0	0	0	0	1	0	0	0	622	98	4	5	13616	5	ANK3	10	62149275	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	11618652	62149275	73385472	38	7142											
ECHS1	1892	broad.mit.edu	37	chr10	135183513	135183513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaaactcaggttctgCatttccttgatatcagctcc	8	14	7	12	0	3	1	2	1	1	0	6	2	6	2	3	2	3	3	3	2	2	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:135183513C>T	ENST00000368547.3	-	3	664	c.309G>A	c.(307-309)atG>atA	p.M103I	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	103					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCAGGTTCTGCATTTCCTTGA	0.517																																					GBM(132;1720 1771 5373 10277 21402)	uc001lmu.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(307-309)atG>atA		Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.							145	121	129					10																	135183513		2202	4300	6502	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135183513C>T		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.309G>A	10.37:g.135183513C>T	ENSP00000357535:p.Met103Ile						p.M103I	NM_004092	NP_004083	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	2	380	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	103					O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.309G>A	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622455	0.87460	.	.	ENSG00000127884	ENST00000368547	T	0.67345	-0.26	5.63	5.63	0.86233	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	L	0.46157	1.445	0.80722	D	1	P	0.43542	0.81	P	0.55824	0.785	T	0.76361	-0.2987	10	0.87932	D	0	.	17.237	0.87001	0.0:1.0:0.0:0.0	.	103	P30084	ECHM_HUMAN	I	103	ENSP00000357535:M103I	ENSP00000357535:M103I	M	-	3	0	ECHS1	135033503	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.933000	0.75874	2.662000	0.90505	0.555000	0.69702	ATG		0.517	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			T	135183513	C	T	135183513	3	4	104	1	0	0	0	0	1	0	0	0	4896	710	25	3	587	3	ECHS1	10	135183513	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	73034238	135183513	351234	39	7143											
KBTBD4	55709	broad.mit.edu	37	chr11	47594600	47594600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctttttatatcggtccCggaagacatagatgctcccg	8	11	8	14	3	0	2	0	0	0	2	3	3	2	3	4	2	1	1	4	2	4	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:47594600C>G	ENST00000526005.1	-	4	1592	c.1439G>C	c.(1438-1440)cGg>cCg	p.R480P	KBTBD4_ENST00000395288.2_Missense_Mutation_p.R480P|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R496P|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R505P			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	480										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATATCGGTCCCGGAAGACATA	0.527																																						uc001nfx.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1438-1440)cGg>cCg		Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.							72	61	64					11																	47594600		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47594600C>G	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1439G>C	11.37:g.47594600C>G	ENSP00000433340:p.Arg480Pro					PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.R505P|KBTBD4_uc001nfz.3_Missense_Mutation_p.R496P|KBTBD4_uc001nfy.3_Missense_Mutation_p.R480P	p.R480P	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			3	1610	-			480					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.1439G>C	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434124	0.83776	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.81	5.81	0.92471	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.986;0.97	T	0.69064	-0.5244	10	0.41790	T	0.15	-18.2529	20.0745	0.97737	0.0:1.0:0.0:0.0	.	496;480;505	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	P	480;505;480;496	ENSP00000433340:R480P;ENSP00000436713:R505P;ENSP00000378703:R480P;ENSP00000415106:R496P	ENSP00000378703:R480P	R	-	2	0	KBTBD4	47551176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.748000	0.94277	0.462000	0.41574	CGG		0.527	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		G	47594600	C	G	47594600	3	3	104	1	0	0	0	0	1	0	0	0	7995	652	23	5	121	5	KBTBD4	11	47594600	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		47594600	87411916	40	7144											
OR5AR1	219493	broad.mit.edu	37	chr11	56432005	56432005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttctacacggttatcAtccccatgttaaatcccttg	8	15	6	12	1	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	4	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:56432005A>G	ENST00000302969.2	+	1	868	c.844A>G	c.(844-846)Atc>Gtc	p.I282V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CACGGTTATCATCCCCATGTT	0.423																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(844-846)Atc>Gtc		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							74	71	72					11																	56432005		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56432005A>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.844A>G	11.37:g.56432005A>G	ENSP00000302639:p.Ile282Val					OR8U8_uc001nit.2_Intron	p.I282V	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	844	+			282					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.844A>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174746	0.38413	.	.	ENSG00000172459	ENST00000302969	T	0.37058	1.22	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.34106	0.0886	L	0.54908	1.71	0.25286	N	0.989392	B	0.21905	0.062	B	0.30251	0.113	T	0.31420	-0.9944	10	0.56958	D	0.05	.	7.2703	0.26252	0.7094:0.1482:0.0:0.1424	.	282	Q8NGP9	O5AR1_HUMAN	V	282	ENSP00000302639:I282V	ENSP00000302639:I282V	I	+	1	0	OR5AR1	56188581	0.000000	0.05858	1.000000	0.80357	0.775000	0.43874	0.400000	0.20932	2.128000	0.65567	0.467000	0.42956	ATC		0.423	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		G	56432005	A	G	56432005	3	3	104	1	0	0	0	0	1	0	0	0	11145	217	8	4	846	4	OR5AR1	11	56432005	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	8837405	56432005	78574511	41	7145											
PRSS23	11098	broad.mit.edu	37	chr11	86519032	86519032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagatggggcccaacaccGagactcagggtcttcaggaa	11	6	14	10	1	3	2	2	0	1	2	3	5	3	3	2	5	1	0	2	5	2	1	rs371463722		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:86519032G>A	ENST00000280258.5	+	2	772	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PRSS23_ENST00000441050.1_Missense_Mutation_p.R84Q|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	116						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAACACCGAGACTCAGGG	0.517																																						uc021qok.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(346-348)cGa>cAa		Homo sapiens protease, serine, 23 (PRSS23), mRNA.		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	70	65	67		347	-6.1	0	11		67	0,8598		0,0,4299	no	missense	PRSS23	NM_007173.4	43	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	116/384	86519032	1,12999	2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519032G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.347G>A	11.37:g.86519032G>A	ENSP00000280258:p.Arg116Gln					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q|PRSS23_uc001pcb.3_Missense_Mutation_p.R116Q	p.R116Q	NM_007173	NP_009104	O95084	PRS23_HUMAN			0	347	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	116					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.347G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.546669	0.00140	2.27E-4	0.0	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	3.05	-6.1	0.02138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.484310	0.03695	N	0.247722	T	0.26774	0.0655	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15122	-1.0448	8	.	.	.	2.1939	8.3129	0.32082	0.6717:0.1308:0.1975:0.0	.	84;116	B4E2J3;O95084	.;PRS23_HUMAN	Q	116;116;84	.	.	R	+	2	0	PRSS23	86196680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.227000	0.02950	-2.121000	0.00825	-0.743000	0.03520	CGA		0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		A	86519032	G	A	86519032	3	1	104	1	0	0	0	0	1	0	0	0	12620	1058	37	2	349	2	PRSS23	11	86519032	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	30087027	86519032	48487484	42	7146											
PVRL1	5818	broad.mit.edu	37	chr11	119510587	119510587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcacccggccccatccGtctccggtgggctcttctgc	2	10	11	18	3	4	0	1	0	3	0	6	0	5	0	5	4	1	2	5	4	0	1	rs545782858	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:119510587G>A	ENST00000341398.2	-	6	1138	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGCCCCATCCGTCTCCGGTGG	0.622													G|||	3	0.000599042	8e-04	0	5008	,	,		16968	0		0	False		,,,				2504	0.002					uc001pwu.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1138-1140)aCg>aTg		Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.							38	41	40					11																	119510587		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119510587G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1139C>T	11.37:g.119510587G>A	ENSP00000344974:p.Thr380Met						p.T380M	NM_203285	NP_976030	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	5	1311	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	0					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	c.1139C>T	CCDS8425.1	.	.	.	.	.	.	.	.	.	.	G	9.810	1.182925	0.21870	.	.	ENSG00000110400	ENST00000341398	T	0.74842	-0.88	3.82	-3.19	0.05171	.	.	.	.	.	T	0.43523	0.1251	N	0.02802	-0.49	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19778	-1.0295	9	0.34782	T	0.22	.	4.6962	0.12804	0.3747:0.1845:0.4408:0.0	.	380	Q15223-2	.	M	380	ENSP00000344974:T380M	ENSP00000344974:T380M	T	-	2	0	PVRL1	119015797	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.495000	0.06443	-0.651000	0.05415	0.462000	0.41574	ACG		0.622	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1			A	119510587	G	A	119510587	3	1	104	1	0	0	0	0	1	0	0	0	12839	1145	40	1	249	1	PVRL1	11	119510587	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	32991555	119510587	15495929	43	7147											
KIRREL3	84623	broad.mit.edu	37	chr11	126343282	126343282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcttggcattgtctgcGtggcaggtgaggttgagagg	6	10	19	6	1	1	2	0	2	1	1	1	3	1	2	0	6	1	5	0	6	0	3	rs376743687		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:126343282G>A	ENST00000525144.2	-	5	762	c.513C>T	c.(511-513)caC>caT	p.H171H	KIRREL3_ENST00000525704.2_Silent_p.H171H|KIRREL3_ENST00000529097.2_Silent_p.H171H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	171	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CATTGTCTGCGTGGCAGGTGA	0.642																																						uc001qea.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(511-513)caC>caT		Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.			,	1,4165		0,1,2082	39	45	43		513,513	-2.8	1	11		43	0,8394		0,0,4197	no	coding-synonymous,coding-synonymous	KIRREL3	NM_001161707.1,NM_032531.3	,	0,1,6279	AA,AG,GG		0.0,0.024,0.0080	,	171/601,171/779	126343282	1,12559	2083	4197	6280	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126343282G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.513C>T	11.37:g.126343282G>A						KIRREL3_uc001qeb.3_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	p.H171H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	4	874	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	171			Ig-like C2-type 2.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.513C>T	CCDS53723.1																																																																																				0.642	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126343282	G	A	126343282	2	1	104	1	0	0	0	0	0	0	0	1	8326	1136	40	1		1	KIRREL3	11	126343282	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	6832695	126343282	8663234	44	7148											
A2M	2	broad.mit.edu	37	chr12	9230302	9230302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatgattcacctttaTggcattgttgagcagtgacc	10	13	9	9	0	1	4	1	3	0	1	2	4	2	4	3	1	1	3	3	1	2	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9230302T>C	ENST00000318602.7	-	26	3578	c.3271A>G	c.(3271-3273)Ata>Gta	p.I1091V	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1091					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCACCTTTATGGCATTGTTG	0.443																																						uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3271-3273)Ata>Gta		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)						88	89	89					12																	9230302		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9230302T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3271A>G	12.37:g.9230302T>C	ENSP00000323929:p.Ile1091Val					A2M_uc009zgk.1_Missense_Mutation_p.I941V	p.I1091V	NM_000014	NP_000005	P01023	A2MG_HUMAN			25	3384	-			1091					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3271A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731705	0.48939	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.31769	1.48	5.76	4.57	0.56435	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.324480	0.31949	N	0.006811	T	0.37892	0.1020	M	0.67953	2.075	0.28285	N	0.923822	B	0.23128	0.08	B	0.33121	0.158	T	0.41680	-0.9495	10	0.62326	D	0.03	.	13.9334	0.64010	0.0:0.0:0.1845:0.8155	.	1091	P01023	A2MG_HUMAN	V	1091;1106	ENSP00000323929:I1091V	ENSP00000323929:I1091V	I	-	1	0	A2M	9121569	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.721000	0.47260	2.199000	0.70637	0.477000	0.44152	ATA		0.443	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9230302	T	C	9230302	3	2	104	1	0	0	0	0	1	0	0	0	4	1464	51	4	1197	4	A2M	12	9230302	Missense_Mutation	SNP	T	TCGA-06-6695-01A-11D-1845-08		9230302	124621593	45	7149											
PZP	5858	broad.mit.edu	37	chr12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgccgtgatagtctccGtgtggccacagggcagggta	7	9	16	9	2	1	1	0	1	1	0	2	1	1	1	3	3	1	2	3	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9345184G>A	ENST00000261336.2	-	12	1434	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_ENST00000381997.2_Missense_Mutation_p.T338M	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	469					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T338M(1)|p.T469M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATAGTCTCCGTGTGGCCACA	0.512																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			2	Substitution - Missense(2)	p.T469M(2)|p.T338M(1)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1405-1407)aCg>aTg		Homo sapiens pregnancy-zone protein (PZP), mRNA.							94	93	93					12																	9345184		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9345184G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1406C>T	12.37:g.9345184G>A	ENSP00000261336:p.Thr469Met					PZP_uc009zgl.3_Missense_Mutation_p.T338M	p.T469M	NM_002864	NP_002855					11	1435	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1406C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912499	0.33721	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.65732	-0.17;-0.17	3.23	-2.25	0.06888	Alpha-2-macroglobulin, N-terminal 2 (1);	1.422160	0.04634	U	0.404113	T	0.72153	0.3425	M	0.70903	2.155	0.09310	N	1	D;D	0.76494	0.999;0.958	D;B	0.69654	0.965;0.298	T	0.59059	-0.7525	10	0.49607	T	0.09	.	3.0205	0.06073	0.5072:0.0:0.2838:0.209	.	338;469	P20742-2;P20742	.;PZP_HUMAN	M	469;338	ENSP00000261336:T469M;ENSP00000371427:T338M	ENSP00000261336:T469M	T	-	2	0	PZP	9236451	0.000000	0.05858	0.018000	0.16275	0.179000	0.23085	-0.256000	0.08757	-0.228000	0.09869	0.313000	0.20887	ACG		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9345184	G	A	9345184	3	1	104	1	0	0	0	0	1	0	0	0	12869	1145	40	1	3142	1	PZP	12	9345184	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	114882	9345184	124506711	46	7150											
KLRC1	3821	broad.mit.edu	37	chr12	10600149	10600149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcatgtttgaaagccaaaCcattcattgtcacccatgga	13	11	6	11	0	3	1	3	1	0	0	3	2	3	2	3	1	2	1	3	1	2	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:10600149C>T	ENST00000359151.3	-	6	753	c.572G>A	c.(571-573)gGt>gAt	p.G191D	KLRC1_ENST00000536188.1_Missense_Mutation_p.G191D|KLRC1_ENST00000408006.3_Missense_Mutation_p.G173D|KLRC1_ENST00000347831.5_Missense_Mutation_p.G173D|KLRC1_ENST00000544822.1_Missense_Mutation_p.G191D	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	191	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GAAAGCCAAACCATTCATTGT	0.323																																						uc001qyl.3																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(571-573)gGt>gAt		Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.							118	109	112					12																	10600149		2203	4300	6503	SO:0001583	missense	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10600149C>T	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.572G>A	12.37:g.10600149C>T	ENSP00000352064:p.Gly191Asp					KLRC1_uc009zhm.2_Missense_Mutation_p.G191D|KLRC1_uc001qym.3_Missense_Mutation_p.G173D|KLRC1_uc001qyn.3_Missense_Mutation_p.G191D|KLRC1_uc001qyo.3_Missense_Mutation_p.G173D	p.G191D	NM_002259	NP_998823	P26715	NKG2A_HUMAN			5	786	-			191			C-type lectin.			Missense_Mutation	SNP	ENST00000359151.3	37	c.572G>A	CCDS8625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.74|10.74	1.436458|1.436458	0.25813|0.25813	.|.	.|.	ENSG00000134545|ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822|ENST00000543893	T;T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42;1.42|.	2.34|2.34	2.34|2.34	0.29019|0.29019	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.203139|.	0.24757|.	N|.	0.035851|.	T|T	0.60715|0.60715	0.2290|0.2290	M|M	0.85777|0.85777	2.775|2.775	0.09310|0.09310	N|N	0.999999|0.999999	P;D|.	0.76494|.	0.934;0.999|.	P;D|.	0.68353|.	0.507;0.957|.	T|T	0.52593|0.52593	-0.8555|-0.8555	10|5	0.41790|.	T|.	0.15|.	.|.	8.3052|8.3052	0.32038|0.32038	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;191|.	P26715-2;P26715|.	.;NKG2A_HUMAN|.	D|I	191;191;173;173;191|71	ENSP00000441432:G191D;ENSP00000352064:G191D;ENSP00000385304:G173D;ENSP00000256965:G173D;ENSP00000438038:G191D|.	ENSP00000256965:G173D|.	G|V	-|-	2|1	0|0	KLRC1|KLRC1	10491416|10491416	0.000000|0.000000	0.05858|0.05858	0.126000|0.126000	0.21872|0.21872	0.002000|0.002000	0.02628|0.02628	-0.019000|-0.019000	0.12546|0.12546	1.608000|1.608000	0.50180|0.50180	0.398000|0.398000	0.26397|0.26397	GGT|GTT		0.323	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		T	10600149	C	T	10600149	3	4	104	1	0	0	0	0	1	0	0	0	8415	507	18	3	137	3	KLRC1	12	10600149	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	1254965	10600149	123251746	47	7151											
LRRK2	120892	broad.mit.edu	37	chr12	40715936	40715936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatctgaagtcttagacaAtcatccagagagtttcttaa	14	12	8	7	0	4	3	1	1	3	2	5	5	5	4	1	1	0	1	1	1	4	3	rs368762897		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:40715936A>G	ENST00000298910.7	+	36	5328	c.5270A>G	c.(5269-5271)aAt>aGt	p.N1757S		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1757					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTAGACAATCATCCAGAG	0.353																																						uc001rmg.4																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5269-5271)aAt>aGt		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.		A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	73	76	75		5270	1.9	0.1	12		75	0,8598		0,0,4299	no	missense	LRRK2	NM_198578.3	46	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	benign	1757/2528	40715936	1,13003	2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40715936A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5270A>G	12.37:g.40715936A>G	ENSP00000298910:p.Asn1757Ser					LRRK2_uc009zjw.3_Missense_Mutation_p.N595S|LRRK2_uc001rmi.3_Missense_Mutation_p.N590S	p.N1757S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			35	5391	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1757					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5270A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488801	0.26686	2.27E-4	0.0	ENSG00000188906	ENST00000298910	T	0.71103	-0.54	5.73	1.9	0.25705	.	1.089310	0.06771	N	0.783570	T	0.47581	0.1453	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.28522	-1.0041	10	0.19590	T	0.45	.	5.6299	0.17504	0.6615:0.1326:0.2059:0.0	.	1757;1757	Q17RV3;Q5S007	.;LRRK2_HUMAN	S	1757	ENSP00000298910:N1757S	ENSP00000298910:N1757S	N	+	2	0	LRRK2	39002203	0.998000	0.40836	0.070000	0.20053	0.983000	0.72400	2.174000	0.42482	0.069000	0.16605	0.454000	0.30748	AAT		0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40715936	A	G	40715936	3	3	104	1	0	0	0	0	1	0	0	0	9033	101	4	4	5412	4	LRRK2	12	40715936	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	30115787	40715936	93135959	48	7152											
COL2A1	1280	broad.mit.edu	37	chr12	48372465	48372465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcaccagctcggccagggGggccgctgtctcctcgagca	5	7	14	15	3	2	0	1	0	1	0	5	1	2	0	4	4	2	4	4	4	0	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:48372465G>A	ENST00000380518.3	-	42	2974	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P868L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	937	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGCCAGGGGGGCCGCTGTC	0.632																																						uc001rqu.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2809-2811)cCc>cTc		Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	Collagenase(DB00048)						28	30	30					12																	48372465		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372465G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2810C>T	12.37:g.48372465G>A	ENSP00000369889:p.Pro937Leu					COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P868L	p.P937L	NM_001844	NP_001835	P02458	CO2A1_HUMAN			41	2991	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	937			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2810C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678630	0.47886	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96685	-4.09;-4.09	5.46	5.46	0.80206	.	0.064498	0.64402	D	0.000007	D	0.94686	0.8286	L	0.45744	1.44	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	D	0.91373	0.5121	10	0.72032	D	0.01	.	18.9166	0.92508	0.0:0.0:1.0:0.0	.	868;937	P02458-1;P02458	.;CO2A1_HUMAN	L	937;868;868	ENSP00000369889:P937L;ENSP00000338213:P868L	ENSP00000338213:P868L	P	-	2	0	COL2A1	46658732	1.000000	0.71417	0.127000	0.21898	0.200000	0.23975	6.729000	0.74775	2.573000	0.86826	0.655000	0.94253	CCC		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48372465	G	A	48372465	3	1	104	1	0	0	0	0	1	0	0	0	3687	1232	43	3	1705	3	COL2A1	12	48372465	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	7656529	48372465	85479430	49	7153											
WNT1	7471	broad.mit.edu	37	chr12	49374347	49374348	+	Frame_Shift_Ins	INS	-	-	G																															cgggggccccgactggcactINSgggggggctgcagcgacaac																										TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:49374347_49374348insG	ENST00000293549.3	+	3	535_536	c.499_500insG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		cgACTGGCACTGGGGGGGCTGC	0.683																																						uc001rsu.3																			1	Deletion - Frameshift(1)	p.G169fs*30(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(499-501)tggfs		Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.																																				SO:0001589	frameshift_variant	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49374347_49374348insG	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.506dupG	12.37:g.49374354_49374354dupG	ENSP00000293549:p.Trp167fs						p.W167fs	NM_005430	NP_005421	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	697_698	+			167					Q5U0N2	Frame_Shift_Ins	INS	ENST00000293549.3	37	c.499_500insG	CCDS8776.1																																																																																				0.683	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			G	49374348	-	G	49374347	7	5	104	1	0	1	1	0	0	0	0	0	17378	1580	55	0	509	0	WNT1	12	49374347	Frame_Shift_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08	1001882	49374347	84477548	50	7154											
PA2G4	5036	broad.mit.edu	37	chr12	56505022	56505022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcccaatggccccatgCggataaccagtggtcccttc	8	9	9	15	1	1	0	1	0	0	0	3	1	2	1	5	3	3	0	5	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:56505022C>T	ENST00000303305.6	+	11	1413	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	332	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCCCCATGCGGATAACCAG	0.438																																						uc001sjm.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(994-996)Cgg>Tgg		Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.							94	90	91					12																	56505022		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505022C>T	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.994C>T	12.37:g.56505022C>T	ENSP00000302886:p.Arg332Trp						p.R332W	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		10	1413	+			332			Necessary for nucleolar localization.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.994C>T	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785300	0.49997	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	5.95	4.08	0.47627	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.55017	1.72	0.80722	D	1	B;B	0.29955	0.263;0.171	B;B	0.25884	0.064;0.019	T	0.56926	-0.7898	9	0.66056	D	0.02	.	13.4675	0.61263	0.5616:0.4384:0.0:0.0	.	332;332	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	W	332;361;332	.	ENSP00000302886:R332W	R	+	1	2	PA2G4	54791289	0.911000	0.30947	1.000000	0.80357	0.992000	0.81027	0.011000	0.13264	0.790000	0.33803	-0.169000	0.13324	CGG		0.438	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		T	56505022	C	T	56505022	3	4	104	1	0	0	0	0	1	0	0	0	11361	759	27	1	1036	1	PA2G4	12	56505022	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	7130675	56505022	77346873	51	7155											
GRIP1	23426	broad.mit.edu	37	chr12	66788078	66788078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtgatgccaaggggccccCcgtagcgtttaagctccacg	7	9	12	13	3	0	1	0	1	0	0	1	1	1	1	5	2	3	3	5	2	3	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:66788078C>T	ENST00000398016.3	-	16	1951	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GRIP1_ENST00000359742.4_Missense_Mutation_p.G680E|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.G680E	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGGGGCCCCCCGTAGCGTTT	0.413																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1882-1884)gGg>gAg		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							92	89	90					12																	66788078		1813	4077	5890	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66788078C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1883G>A	12.37:g.66788078C>T	ENSP00000381098:p.Gly628Glu					GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.3_Missense_Mutation_p.G410E|GRIP1_uc001stm.3_Missense_Mutation_p.G628E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E	p.G628E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	15	2124	-			680			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1883G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.431555|4.431555	0.83776|0.83776	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|T	0.27557|0.26518	1.66;1.66;1.66;1.66;1.66;1.66|1.73	4.2|4.2	4.2|4.2	0.49525|0.49525	PDZ/DHR/GLGF (3);|.	0.048584|0.048584	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.44829|0.44829	0.1312|0.1312	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.979;0.558;1.0;1.0|.	P;B;D;D|.	0.97110|.	0.84;0.407;0.998;1.0|.	T|T	0.30268|0.30268	-0.9984|-0.9984	9|7	.|.	.|.	.|.	-18.3968|-18.3968	17.8456|17.8456	0.88729|0.88729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	628;680;628;680|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	E|R	628;680;680;628;572;520|495	ENSP00000381098:G628E;ENSP00000352780:G680E;ENSP00000286445:G680E;ENSP00000446047:G628E;ENSP00000446024:G572E;ENSP00000446011:G520E|ENSP00000439053:G495R	.|.	G|G	-|-	2|1	0|0	GRIP1|GRIP1	65074345|65074345	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	5.877000|5.877000	0.69675|0.69675	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66788078	C	T	66788078	3	4	104	1	0	0	0	0	1	0	0	0	6787	623	22	3	1383	3	GRIP1	12	66788078	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	10283056	66788078	67063817	52	7156											
COL4A1	1282	broad.mit.edu	37	chr13	110819539	110819539	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggaggccccatatcAcccttagagcctgtgattcc	8	10	8	15	0	1	2	1	1	0	1	3	3	3	3	6	2	1	0	6	2	2	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr13:110819539A>C	ENST00000375820.4	-	44	4036	c.3915T>G	c.(3913-3915)ggT>ggG	p.G1305G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1305	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCCATATCACCCTTAGAGC	0.507																																						uc001vqw.4																			0		p.K1304K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3913-3915)ggT>ggG		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							181	171	174					13																	110819539		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110819539A>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3915T>G	13.37:g.110819539A>C							p.G1305G	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		43	4037	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1305			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.3915T>G	CCDS9511.1																																																																																				0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			C	110819539	A	C	110819539	2	2	104	1	0	0	0	0	0	0	0	1	3689	146	6	5		5	COL4A1	13	110819539	Silent	SNP	A	TCGA-06-6695-01A-11D-1845-08		110819539	4350339	53	7157											
AHNAK2	113146	broad.mit.edu	37	chr14	105409917	105409917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgtcatgtccttgtcGgccagggacaggtccccctc	4	10	12	15	2	1	0	1	0	0	0	5	1	3	1	5	4	0	0	5	4	0	2	rs375246824	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr14:105409917G>A	ENST00000333244.5	-	7	11990	c.11871C>T	c.(11869-11871)gcC>gcT	p.A3957A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3957						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCCTTGTCGGCCAGGGACA	0.622													.|||	2	0.000399361	0	0	5008	,	,		19535	0		0.002	False		,,,				2504	0					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11869-11871)gcC>gcT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.		A		1,3973		0,1,1986	200	198	199		11871	-7.8	0	14		199	4,8314		0,4,4155	no	coding-synonymous	AHNAK2	NM_138420.2		0,5,6141	AA,AG,GG		0.0481,0.0252,0.0407		3957/5796	105409917	5,12287	1987	4159	6146	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409917G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11871C>T	14.37:g.105409917G>A						AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A3857A	p.A3957A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3957					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11871C>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105409917	G	A	105409917	2	1	104	1	0	0	0	0	0	0	0	1	415	1103	39	2		2	AHNAK2	14	105409917	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08		105409917	1939623	54	7158											
LRRK1	79705	broad.mit.edu	37	chr15	101464858	101464859	+	Frame_Shift_Ins	INS	-	-	C																															tggctggcatgtcgcaaagaINSccccccagcatgtactggtg																								rs373263143		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:101464858_101464859insC	ENST00000388948.3	+	2	380_381	c.21_22insC	c.(22-24)cccfs	p.P8fs	LRRK1_ENST00000532029.2_Frame_Shift_Ins_p.P8fs|LRRK1_ENST00000284395.5_5'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCGCAAAGACCCCCCAGCAT	0.594																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(19-24)agacccfs		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.																																				SO:0001589	frameshift_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101464858_101464859insC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.27dupC	15.37:g.101464864_101464864dupC	ENSP00000373600:p.Pro8fs					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs	p.R7fs	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	340_341	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		7						Frame_Shift_Ins	INS	ENST00000388948.3	37	c.21_22insC	CCDS42086.1																																																																																				0.594	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		C	101464859	-	C	101464858	7	5	104	1	0	1	1	0	0	0	0	0	9032	272	10	0	23	0	LRRK1	15	101464858	Frame_Shift_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08		101464858	1066534	55	7159											
AXIN1	8312	broad.mit.edu	37	chr16	347056	347056	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcgtgcggggtgctcacCcgtggccggtcctgcggtgc	1	8	18	14	5	1	0	1	0	0	0	2	0	2	0	3	5	5	2	3	5	0	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:347056C>G	ENST00000262320.3	-	7	2326	c.1955G>C	c.(1954-1956)gGg>gCg	p.G652A	AXIN1_ENST00000354866.3_Splice_Site_p.G652A|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	652	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGTGCTCACCCGTGGCCGGT	0.627																																						uc002cgp.2																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.e7+1		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							113	103	107					16																	347056		2203	4300	6503	SO:0001630	splice_region_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347056C>G	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1955+1G>C	16.37:g.347056C>G						LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Splice_Site_p.G652_splice	p.G652_splice	NM_003502	NP_003493	O15169	AXIN1_HUMAN			7	2344	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	652			Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1955_splice	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946253	0.18356	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.59906	0.23;0.25	4.98	4.98	0.66077	.	0.138764	0.64402	D	0.000003	T	0.60248	0.2254	L	0.51422	1.61	0.58432	D	0.999995	P;P	0.41673	0.759;0.646	P;B	0.45712	0.491;0.296	T	0.59043	-0.7528	9	.	.	.	-21.9959	18.2287	0.89927	0.0:1.0:0.0:0.0	.	652;652	O15169-2;O15169	.;AXIN1_HUMAN	A	652	ENSP00000262320:G652A;ENSP00000346935:G652A	.	G	-	2	0	AXIN1	287057	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.503000	0.66962	2.317000	0.78254	0.478000	0.44815	GGG		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		Missense_Mutation	G	347056	C	G	347056	5	3	104	1	0	0	0	0	0	0	1	0	1236	637	22	5	653	5	AXIN1	16	347056	Splice_Site	SNP	C	TCGA-06-6695-01A-11D-1845-08		347056	90007697	56	7160											
ERCC4	2072	broad.mit.edu	37	chr16	14041971	14041971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagattctgaaacccttcccGagtcagagaagtataatcct	13	10	7	11	1	2	3	1	1	1	2	4	5	4	3	3	0	1	1	3	0	4	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:14041971G>A	ENST00000311895.7	+	11	2527	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	840	HhH2, dimerization with ERCC1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCTTCCCGAGTCAGAGAA	0.498			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(2518-2520)Gag>Aag	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.							47	47	47					16																	14041971		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14041971G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2518G>A	16.37:g.14041971G>A	ENSP00000310520:p.Glu840Lys					ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	p.E840K	NM_005236	NP_005227	Q92889	XPF_HUMAN			10	2527	+			840			Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.2518G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124226	0.77436	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.18810	2.19	6.16	6.16	0.99307	RuvA domain 2-like (1);	0.046217	0.85682	D	0.000000	T	0.25158	0.0611	M	0.80422	2.495	0.80722	D	1	P	0.43287	0.802	B	0.28553	0.091	T	0.20338	-1.0278	10	0.19147	T	0.46	-27.5798	19.848	0.96722	0.0:0.0:1.0:0.0	.	840	Q92889	XPF_HUMAN	K	840;828	ENSP00000310520:E840K	ENSP00000310520:E840K	E	+	1	0	ERCC4	13949472	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.369000	0.79578	2.937000	0.99478	0.650000	0.86243	GAG		0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14041971	G	A	14041971	3	1	104	1	0	0	0	0	1	0	0	0	5215	1059	37	2	2560	2	ERCC4	16	14041971	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	13694915	14041971	76312782	57	7161											
PLCG2	5336	broad.mit.edu	37	chr16	81953271	81953271	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggagcgctacaatatggTaggtggtggactcccttgtg	7	11	14	9	1	0	0	0	0	0	0	1	2	1	2	2	5	2	2	2	5	4	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:81953271T>A	ENST00000359376.3	+	20	2449		c.e20+2			NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)						B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACAATATGGTAGGTGGTGGA	0.493																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.e20+2		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							47	51	50					16																	81953271		1939	4117	6056	SO:0001630	splice_region_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81953271T>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2235+2T>A	16.37:g.81953271T>A						PLCG2_uc010chg.1_Splice_Site_p.M745_splice	p.M745_splice	NM_002661	NP_002652	P16885	PLCG2_HUMAN			20	2413	+			745	M -> T (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).				D3DUL3|Q3ZTS2|Q59H45|Q969T5	Splice_Site	SNP	ENST00000359376.3	37	c.2235_splice	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317135	0.40996	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.3	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1182	0.14847	0.1392:0.1399:0.0:0.7209	.	.	.	.	.	-1	.	.	.	+	.	.	PLCG2	80510772	1.000000	0.71417	0.485000	0.27403	0.477000	0.33069	3.729000	0.54999	0.825000	0.34637	0.533000	0.62120	.		0.493	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		Intron	A	81953271	T	A	81953271	5	1	104	1	0	0	0	0	0	0	1	0	12036	1652	57	5	2311	5	PLCG2	16	81953271	Splice_Site	SNP	T	TCGA-06-6695-01A-11D-1845-08	67911300	81953271	8401482	58	7162											
ANKRD11	29123	broad.mit.edu	37	chr16	89347130	89347130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctcggtgatgacggcGctgaagggaccctcgtccag	6	7	15	13	4	0	3	0	3	0	0	4	4	2	4	3	4	0	2	3	4	1	0	rs368770538		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:89347130G>A	ENST00000301030.4	-	9	6280	c.5820C>T	c.(5818-5820)agC>agT	p.S1940S	ANKRD11_ENST00000378330.2_Silent_p.S1940S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1940	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGATGACGGCGCTGAAGGGAC	0.692																																						uc002fmx.1																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5818-5820)agC>agT		Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.		G		0,4318		0,0,2159	25	29	28		5820	-0.9	0	16		28	1,8387		0,1,4193	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6352	AA,AG,GG		0.0119,0.0,0.0079		1940/2664	89347130	1,12705	2159	4194	6353	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347130G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5820C>T	16.37:g.89347130G>A						ANKRD11_uc002fmy.1_Silent_p.S1940S|ANKRD11_uc002fnc.1_Silent_p.S1940S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.S1897S	p.S1940S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	6281	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1940			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5820C>T	CCDS32513.1																																																																																				0.692	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89347130	G	A	89347130	2	1	104	1	0	0	0	0	0	0	0	1	639	1078	38	1		1	ANKRD11	16	89347130	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	7393859	89347130	1007623	59	7163											
OR3A2	4995	broad.mit.edu	37	chr17	3181517	3181517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttcggccctccactgaaCggattcgtagaactgcagct	8	11	9	13	3	1	2	0	1	1	1	4	3	2	3	2	2	4	3	2	2	3	3	rs201033738	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr17:3181517C>T	ENST00000408891.2	-	1	751	c.713G>A	c.(712-714)cGt>cAt	p.R238H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	238					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CTCCACTGAACGGATTCGTAG	0.527													C|||	2	0.000399361	0	0	5008	,	,		21653	0		0.001	False		,,,				2504	0.001				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.3																			0				ovary(1)	1						c.(712-714)cGt>cAt		Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.		C	HIS/ARG	2,4404	6.2+/-15.9	0,2,2201	52	55	54		713	-0.7	0	17		54	13,8587	10.5+/-38.8	0,13,4287	yes	missense	OR3A2	NM_002551.3	29	0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153	benign	238/322	3181517	15,12991	2203	4300	6503	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181517C>T	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.713G>A	17.37:g.3181517C>T	ENSP00000386180:p.Arg238His						p.R238H	NM_002551	NP_002542	P47893	OR3A2_HUMAN			0	752	-			238					Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.713G>A	CCDS42233.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.298	-0.360768	0.05103	4.54E-4	0.001512	ENSG00000221882	ENST00000408891	T	0.39229	1.09	4.9	-0.715	0.11215	GPCR, rhodopsin-like superfamily (1);	0.493501	0.17156	N	0.184862	T	0.23688	0.0573	N	0.25060	0.705	0.09310	N	1	B	0.19935	0.04	B	0.25884	0.064	T	0.16364	-1.0405	10	0.28530	T	0.3	-1.1732	5.8402	0.18629	0.0:0.3797:0.3232:0.2971	.	238	P47893	OR3A2_HUMAN	H	238	ENSP00000386180:R238H	ENSP00000386180:R238H	R	-	2	0	OR3A2	3128267	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.287000	0.02785	-0.116000	0.11893	-1.066000	0.02275	CGT		0.527	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			T	3181517	C	T	3181517	3	4	104	1	0	0	0	0	1	0	0	0	11038	536	19	1	256	1	OR3A2	17	3181517	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		3181517	78013693	60	7164											
C19orf35	374872	broad.mit.edu	37	chr19	2278840	2278840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagaggcccagtggggCgtcagccgggccaaaggtca	9	3	19	10	2	2	1	2	0	0	1	2	3	2	1	3	6	1	0	3	6	1	0	rs201167235		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:2278840C>T	ENST00000342063.3	-	3	448	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	119										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGTGGGGCGTCAGCCGGG	0.677																																						uc002lvn.2																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(355-357)Gcc>Acc		Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.		C	THR/ALA	0,4364		0,0,2182	9	10	10		355	-5.7	0	19		10	2,8556		0,2,4277	no	missense	C19orf35	NM_198532.2	58	0,2,6459	TT,TC,CC		0.0234,0.0,0.0155	benign	119/474	2278840	2,12920	2182	4279	6461	SO:0001583	missense	374872							g.chr19:2278840C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.355G>A	19.37:g.2278840C>T	ENSP00000345102:p.Ala119Thr					SPPL2B_uc010dsw.1_Intron	p.A119T	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	455	-			119						Missense_Mutation	SNP	ENST00000342063.3	37	c.355G>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	1.651	-0.514073	0.04200	0.0	2.34E-4	ENSG00000188305	ENST00000342063	T	0.14266	2.52	4.18	-5.7	0.02421	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.43556	-0.9384	9	0.10902	T	0.67	.	1.3575	0.02185	0.1288:0.338:0.2335:0.2997	.	119	Q6ZS72	CS035_HUMAN	T	119	ENSP00000345102:A119T	ENSP00000345102:A119T	A	-	1	0	C19orf35	2229840	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.487000	0.06505	-0.466000	0.06943	0.456000	0.33151	GCC		0.677	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		T	2278840	C	T	2278840	3	4	104	1	0	0	0	0	1	0	0	0	1920	768	27	1	1074	1	C19orf35	19	2278840	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		2278840	56850143	61	7165											
TNFSF9	8744	broad.mit.edu	37	chr19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcttacccagggcGccacagtcttgggactcttc	6	9	11	15	1	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	1	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:6535006G>A	ENST00000245817.3	+	3	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	232					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662																																						uc002mfh.2																			0		p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(694-696)Gcc>Acc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							17	19	18					19																	6535006		2203	4292	6495	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6535006G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.694G>A	19.37:g.6535006G>A	ENSP00000245817:p.Ala232Thr						p.A232T	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	732	+			232					Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.694G>A	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.647015	0.47258	.	.	ENSG00000125657	ENST00000245817	D	0.94613	-3.47	4.37	3.33	0.38152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.308394	0.23035	N	0.052690	D	0.88636	0.6490	L	0.28115	0.83	0.20196	N	0.999927	D	0.63880	0.993	P	0.47827	0.558	T	0.80834	-0.1205	10	0.05833	T	0.94	.	8.2125	0.31492	0.1139:0.0:0.8861:0.0	.	232	P41273	TNFL9_HUMAN	T	232	ENSP00000245817:A232T	ENSP00000245817:A232T	A	+	1	0	TNFSF9	6486006	0.065000	0.20965	0.140000	0.22221	0.026000	0.11368	0.133000	0.15912	0.956000	0.37904	0.537000	0.68136	GCC		0.662	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		A	6535006	G	A	6535006	3	1	104	1	0	0	0	0	1	0	0	0	16309	1087	38	1	704	1	TNFSF9	19	6535006	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	4256166	6535006	52593977	62	7166											
TNPO2	30000	broad.mit.edu	37	chr19	12813636	12813636	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccgggccaggtgcccaCctgtgttttccagcagtgtc	5	9	13	14	1	0	0	0	0	0	0	2	0	1	0	5	2	3	3	5	2	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:12813636C>T	ENST00000592287.1	-	20	2414		c.e20+1		TNPO2_ENST00000441499.1_Splice_Site|TNPO2_ENST00000588216.1_Splice_Site|TNPO2_ENST00000356861.5_Splice_Site|TNPO2_ENST00000425528.1_Splice_Site|TNPO2_ENST00000450764.2_Splice_Site	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2						intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTGCCCACCTGTGTTTTC	0.582																																						uc002mup.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e19+1		Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.							201	216	211					19																	12813636		2021	4185	6206	SO:0001630	splice_region_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12813636C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2305+1G>A	19.37:g.12813636C>T						TNPO2_uc002muq.3_Splice_Site_p.A769_splice|TNPO2_uc002muo.3_Splice_Site_p.G769_splice|TNPO2_uc002mur.3_Splice_Site_p.A769_splice	p.A861_splice	NM_013433	NP_038461	O14787	TNPO2_HUMAN			19	3043	-			779					O14655|Q6IN77	Splice_Site	SNP	ENST00000592287.1	37	c.2581_splice	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204098	0.95033	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6365	0.91380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNPO2	12674636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.432000	0.80349	2.685000	0.91497	0.655000	0.94253	.		0.582	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	Intron	T	12813636	C	T	12813636	5	4	104	1	0	0	0	0	0	0	1	0	16333	521	18	3	407	3	TNPO2	19	12813636	Splice_Site	SNP	C	TCGA-06-6695-01A-11D-1845-08	6278630	12813636	46315347	63	7167											
KIR3DL1	3811	broad.mit.edu	37	chr19	55327961	55327961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccggcagcaccatgtcGctcatggtcgtcagcatggc	7	8	12	14	3	2	0	2	0	0	0	4	0	2	0	2	3	3	5	2	3	0	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:55327961G>A	ENST00000391728.4	+	1	39	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000326542.7_Silent_p.S2S|KIR3DL1_ENST00000358178.4_Silent_p.S2S|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	2			S -> L (in dbSNP:rs605219).		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCACCATGTCGCTCATGGTCG	0.597											OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qhl.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(4-6)tcG>tcA		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							30	38	36					19																	55327961		1107	3275	4382	SO:0001819	synonymous_variant	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55327961G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.6G>A	19.37:g.55327961G>A			OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1007	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc010esf.3_Silent_p.S2S|KIR3DL2_uc021vbo.1_Silent_p.S2S|KIR3DL2_uc002qhk.4_Silent_p.S2S	p.S2S			P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	0	69	+			2					O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.6G>A	CCDS42621.1																																																																																				0.597	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		A	55327961	G	A	55327961	2	1	104	1	0	0	0	0	0	0	0	1	8320	1074	38	1		1	KIR3DL1	19	55327961	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	42514325	55327961	3801022	64	7168											
HCK	3055	broad.mit.edu	37	chr20	30674579	30674579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggtcaccaaggagccCatctacatcatcacggagtt	10	8	11	12	2	4	0	3	0	1	0	4	2	4	2	2	4	2	1	2	4	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:30674579C>T	ENST00000520553.1	+	9	1167	c.921C>T	c.(919-921)ccC>ccT	p.P307P	HCK_ENST00000375852.2_Silent_p.P328P|HCK_ENST00000518730.1_Silent_p.P306P|HCK_ENST00000375862.2_Silent_p.P327P|HCK_ENST00000538448.1_Silent_p.P307P|HCK_ENST00000534862.1_Silent_p.P308P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCAAGGAGCCCATCTACATCA	0.587																																						uc002wxh.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(982-984)ccC>ccT		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							136	99	112					20																	30674579		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674579C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.921C>T	20.37:g.30674579C>T						HCK_uc010gdy.3_Silent_p.P308P|HCK_uc021wbv.1_Silent_p.P307P|HCK_uc002wxi.3_Silent_p.P306P	p.P328P	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	1221	+			328			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.984C>T	CCDS54455.1																																																																																				0.587	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			T	30674579	C	T	30674579	2	4	104	1	0	0	0	0	0	0	0	1	6994	581	21	3		3	HCK	20	30674579	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		30674579	32350941	65	7169											
PLUNC	51297	broad.mit.edu	37	chr20	31829275	31829275	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagttggttcagggcaaCgtaagtaggcaaggtgggga	10	8	17	6	1	1	1	1	1	0	0	1	2	1	2	1	6	1	6	1	6	4	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:31829275C>T	ENST00000354297.4	+	6	737	c.666C>T	c.(664-666)aaC>aaT	p.N222N	BPIFA1_ENST00000375422.2_Splice_Site_p.N222N|BPIFA1_ENST00000375413.4_Splice_Site_p.N222N	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	222					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TTCAGGGCAACGTAAGTAGGC	0.502																																						uc002wyt.4																			0											c.e6+1		Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.							154	148	150					20																	31829275		2203	4300	6503	SO:0001630	splice_region_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31829275C>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.666+1C>T	20.37:g.31829275C>T						BPIFA1_uc002wyu.4_Splice_Site_p.N222_splice|BPIFA1_uc002wyv.3_Splice_Site_p.N222_splice	p.N222_splice	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			6	736	+			222					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.666_splice	CCDS13217.1																																																																																				0.502	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	Silent	T	31829275	C	T	31829275	5	4	104	1	0	0	0	0	0	0	1	0	12115	550	19	1	684	1	PLUNC	20	31829275	Splice_Site	SNP	C	TCGA-06-6695-01A-11D-1845-08	1154696	31829275	31196245	66	7170											
DUSP18	150290	broad.mit.edu	37	chr22	31059768	31059768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcacagagacgtgagttagGggagtcagccacaggtacct	11	7	14	9	1	2	2	2	1	0	1	2	4	2	3	2	3	2	2	2	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:31059768G>A	ENST00000334679.3	-	2	728	c.223C>T	c.(223-225)Cct>Tct	p.P75S	DUSP18_ENST00000403268.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.P75S|DUSP18_ENST00000404885.1_Missense_Mutation_p.P75S|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	75					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CGTGAGTTAGGGGAGTCAGCC	0.507																																						uc003aiu.3																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(223-225)Cct>Tct		Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.							265	196	220					22																	31059768		2203	4300	6503	SO:0001583	missense	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059768G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.223C>T	22.37:g.31059768G>A	ENSP00000333917:p.Pro75Ser					SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Intron|DUSP18_uc003aiw.1_Missense_Mutation_p.P75S|DUSP18_uc021wnv.1_Missense_Mutation_p.P75S	p.P75S	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN			1	724	-			75					B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.223C>T	CCDS13883.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115968	0.56505	.	.	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679;ENST00000342474	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.19	5.19	0.71726	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.75447	2.3	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.89610	0.3841	10	0.27785	T	0.31	.	18.3277	0.90260	0.0:0.0:1.0:0.0	.	75	Q8NEJ0	DUS18_HUMAN	S	75	ENSP00000385463:P75S;ENSP00000386063:P75S;ENSP00000333917:P75S;ENSP00000340795:P75S	ENSP00000333917:P75S	P	-	1	0	DUSP18	29389768	1.000000	0.71417	0.138000	0.22173	0.002000	0.02628	4.595000	0.61048	2.431000	0.82371	0.655000	0.94253	CCT		0.507	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			A	31059768	G	A	31059768	3	1	104	1	0	0	0	0	1	0	0	0	4817	1232	43	3	347	3	DUSP18	22	31059768	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		31059768	20244798	67	7171											
CYP2D6	1565	broad.mit.edu	37	chr22	42525154	42525154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaagcgcctctgctcgCgccacgcgggcccatagcgc	6	4	14	17	7	1	1	0	0	1	1	2	2	1	1	3	2	3	1	3	2	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:42525154C>T	ENST00000360608.5	-	3	500	c.386G>A	c.(385-387)cGc>cAc	p.R129H	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.R129H|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	129					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCTGCTCGCGCCACGCGGG	0.687																																						uc003bce.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(385-387)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.							21	25	24					22																	42525154		2017	4168	6185	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525154C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.386G>A	22.37:g.42525154C>T	ENSP00000353820:p.Arg129His					LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Intron|CYP2D6_uc003bcf.3_Intron	p.R129H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			2	476	-			129					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.386G>A	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.121684	0.37436	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.71341	-0.56;-0.56	4.18	3.15	0.36227	.	0.425089	0.18928	N	0.127293	D	0.82416	0.5032	M	0.88775	2.98	0.25889	N	0.983498	D	0.69078	0.997	D	0.64042	0.921	T	0.73142	-0.4076	10	0.87932	D	0	.	7.126	0.25471	0.0:0.7836:0.0:0.2164	.	129	Q6NWU0	.	H	129;129;78	ENSP00000353820:R129H;ENSP00000374620:R129H	ENSP00000353820:R129H	R	-	2	0	CYP2D6	40855098	0.082000	0.21442	0.702000	0.30337	0.041000	0.13682	0.372000	0.20467	1.058000	0.40530	0.305000	0.20034	CGC		0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42525154	C	T	42525154	3	4	104	1	0	0	0	0	1	0	0	0	4169	768	27	1	1135	1	CYP2D6	22	42525154	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	11465386	42525154	8779412	68	7172											
MOV10L1	54456	broad.mit.edu	37	chr22	50581577	50581577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgagtggtgactgccGtcccctcccgtatattctct	5	14	9	13	2	2	2	0	2	2	0	5	3	4	2	4	1	1	1	4	1	2	4	rs140536899		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:50581577G>A	ENST00000262794.5	+	17	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_ENST00000395858.3_Missense_Mutation_p.R762H|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R742H|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R762H	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	762					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACTGCCGTCCCCTCCCG	0.468																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2284-2286)cGt>cAt		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	132	139	136		2285,2225,2285	5.6	1	22	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	762/1166,742/1166,762/1212	50581577	1,13005	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50581577G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2285G>A	22.37:g.50581577G>A	ENSP00000262794:p.Arg762His					MOV10L1_uc003bjk.4_Missense_Mutation_p.R762H|MOV10L1_uc011arp.2_Missense_Mutation_p.R742H|MOV10L1_uc011arq.1_Missense_Mutation_p.R523H	p.R762H	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	16	2368	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	762					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2285G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252396	0.80135	2.27E-4	0.0	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86956	-2.01;-2.01;-1.61;-2.19	5.61	5.61	0.85477	.	0.049309	0.85682	D	0.000000	D	0.93096	0.7802	M	0.68728	2.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.93039	0.6455	10	0.62326	D	0.03	-19.6794	19.6476	0.95789	0.0:0.0:1.0:0.0	.	523;742;762;762	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	H	762;762;762;742	ENSP00000438978:R762H;ENSP00000262794:R762H;ENSP00000379199:R762H;ENSP00000438542:R742H	ENSP00000262794:R762H	R	+	2	0	MOV10L1	48923704	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	7.388000	0.79795	2.647000	0.89833	0.655000	0.94253	CGT		0.468	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50581577	G	A	50581577	3	1	104	1	0	0	0	0	1	0	0	0	9719	1145	40	1	2392	1	MOV10L1	22	50581577	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	8056423	50581577	722989	69	7173											
IL13RA2	3598	broad.mit.edu	37	chrX	114249014	114249014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatccaataagtagtttctgCccaggaactttgaacttctg	11	14	7	9	0	2	1	0	1	2	0	3	2	3	2	2	1	3	2	2	1	6	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chrX:114249014C>T	ENST00000371936.1	-	5	619	c.370G>A	c.(370-372)Gca>Aca	p.A124T	IL13RA2_ENST00000243213.1_Missense_Mutation_p.A124T|IL13RA2_ENST00000468224.1_5'Flank			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	124	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAGTTTCTGCCCAGGAACTT	0.363																																						uc004epx.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(370-372)Gca>Aca		Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.							155	142	147					X																	114249014		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114249014C>T	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.370G>A	X.37:g.114249014C>T	ENSP00000361004:p.Ala124Thr					IL13RA2_uc010nqd.1_Missense_Mutation_p.A124T|IL13RA2_uc022cdb.1_Missense_Mutation_p.A124T	p.A124T	NM_000640	NP_000631	Q14627	I13R2_HUMAN			3	495	-			124			Fibronectin type-III 1.		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.370G>A	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244263	0.01481	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.89875	-2.58;-2.58	4.99	-3.82	0.04281	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.077810	0.07181	N	0.853999	T	0.70570	0.3239	N	0.04355	-0.22	0.22366	N	0.999163	B;B	0.17038	0.017;0.02	B;B	0.08055	0.0;0.003	T	0.57165	-0.7858	10	0.23302	T	0.38	-0.0646	5.1082	0.14794	0.2226:0.339:0.0:0.4384	.	124;124	D0EFR8;Q14627	.;I13R2_HUMAN	T	124	ENSP00000361004:A124T;ENSP00000243213:A124T	ENSP00000243213:A124T	A	-	1	0	IL13RA2	114155270	0.940000	0.31905	0.949000	0.38748	0.156000	0.22039	0.058000	0.14301	-0.463000	0.06973	-0.490000	0.04691	GCA		0.363	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		T	114249014	C	T	114249014	3	4	104	1	0	0	0	0	1	0	0	0	7630	739	26	3	800	3	IL13RA2	23	114249014	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		114249014	41021546	70	7174											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919080	12919080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatcgctgatgaagacGcttcatctggagccattgaa	10	11	11	9	2	2	4	1	3	1	1	3	5	2	5	1	2	1	3	1	2	3	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:12919080G>A	ENST00000240189.2	+	2	303	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	72			T -> R (in dbSNP:rs9659529).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGACGCTTCATCTGG	0.552																																						uc001aum.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(214-216)acG>acA		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.							153	163	159					1																	12919080		2201	4296	6497	SO:0001819	synonymous_variant	65122							g.chr1:12919080G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.216G>A	1.37:g.12919080G>A							p.T72T	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	303	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	72		T -> R (in dbSNP:rs9659529).				Silent	SNP	ENST00000240189.2	37	c.216G>A	CCDS149.1																																																																																				0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12919080	G	A	12919080	2	1	105	1	0	0	0	0	0	0	0	1	12435	1074	38	1		1	PRAMEF2	1	12919080	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		12919080	236331541	1	7175											
SPEN	23013	broad.mit.edu	37	chr1	16199442	16199442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcaacaaaatgggtgacaGagacctacgcacggattata	15	7	11	8	2	1	2	1	1	0	1	1	4	1	3	1	3	2	1	1	3	6	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:16199442G>C	ENST00000375759.3	+	2	419	c.215G>C	c.(214-216)aGa>aCa	p.R72T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	72	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGTGACAGAGACCTACGC	0.493																																						uc001axk.1																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(214-216)aGa>aCa		Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.							122	116	118					1																	16199442		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16199442G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.215G>C	1.37:g.16199442G>C	ENSP00000364912:p.Arg72Thr					SPEN_uc010obp.1_5'Flank	p.R72T	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	1	419	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	72			RRM 1.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.215G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579210	0.46006	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.31071	0.0785	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00520	-1.1692	9	0.87932	D	0	-2.4267	19.8477	0.96722	0.0:0.0:1.0:0.0	.	72	Q96T58	MINT_HUMAN	T	72	ENSP00000364912:R72T	ENSP00000364912:R72T	R	+	2	0	SPEN	16072029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.704000	0.92352	0.650000	0.86243	AGA		0.493	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16199442	G	C	16199442	3	2	105	1	0	0	0	0	1	0	0	0	15037	942	33	5	221	5	SPEN	1	16199442	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	3280362	16199442	233051179	2	7176											
TCEA3	6920	broad.mit.edu	37	chr1	23720438	23720438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacgttccgccgcaggccGgggttcctggggtccttgag	4	8	16	13	4	0	1	0	1	0	0	3	1	3	1	5	5	1	4	5	5	0	3	rs371648023	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:23720438G>A	ENST00000450454.2	-	8	859	c.753C>T	c.(751-753)ccC>ccT	p.P251P		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	251	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCCGCAGGCCGGGGTTCCTGG	0.597													G|||	2	0.000399361	0	0	5008	,	,		19865	0		0	False		,,,				2504	0.002					uc021oig.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(751-753)ccC>ccT		Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.							60	67	65					1																	23720438		1982	4155	6137	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23720438G>A	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.753C>T	1.37:g.23720438G>A						TCEA3_uc009vqm.2_Silent_p.P20P	p.P251P	NM_003196	NP_003187	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	7	888	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	251			TFIIS central.		A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.753C>T	CCDS44086.1																																																																																				0.597	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		A	23720438	G	A	23720438	2	1	105	1	0	0	0	0	0	0	0	1	15666	1103	39	2		2	TCEA3	1	23720438	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	7520996	23720438	225530183	3	7177											
MPL	4352	broad.mit.edu	37	chr1	43817970	43817970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggacactgcagccctgaGcccggtgagtgtgcttccct	6	9	13	13	1	0	2	0	2	0	0	1	3	1	3	3	2	4	2	3	2	1	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:43817970G>A	ENST00000372470.3	+	11	1691	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	550					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GCAGCCCTGAGCCCGGTGAGT	0.607			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(1648-1650)aGc>aAc		Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.							132	111	118					1																	43817970		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43817970G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1649G>A	1.37:g.43817970G>A	ENSP00000361548:p.Ser550Asn					MPL_uc009vwr.3_Missense_Mutation_p.S543N	p.S550N	NM_005373	NP_005364	P40238	TPOR_HUMAN			10	1694	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	550					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.1649G>A	CCDS483.1	.	.	.	.	.	.	.	.	.	.	g	4.642	0.119426	0.08881	.	.	ENSG00000117400	ENST00000372470	D	0.81821	-1.54	3.67	0.564	0.17302	.	0.109289	0.33792	U	0.004555	T	0.72803	0.3506	L	0.60455	1.87	0.80722	D	1	P;P	0.43633	0.813;0.722	B;B	0.42188	0.379;0.243	T	0.64728	-0.6339	10	0.26408	T	0.33	0.0226	6.9753	0.24672	0.3289:0.0:0.6711:0.0	.	543;550	Q308M1;P40238	.;TPOR_HUMAN	N	550	ENSP00000361548:S550N	ENSP00000361548:S550N	S	+	2	0	MPL	43590557	1.000000	0.71417	0.996000	0.52242	0.184000	0.23303	1.865000	0.39479	0.230000	0.21059	0.306000	0.20318	AGC		0.607	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		A	43817970	G	A	43817970	3	1	105	1	0	0	0	0	1	0	0	0	9730	971	34	3	1691	3	MPL	1	43817970	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	20097532	43817970	205432651	4	7178											
DAB1	1600	broad.mit.edu	37	chr1	57480758	57480758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatctggaaatccttaaaCgtttctttgcccattttctg	8	16	6	11	1	3	0	0	0	3	0	4	1	4	1	3	1	2	1	3	1	3	5	rs147876561	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:57480758C>T	ENST00000371231.1	-	13	1375	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	DAB1_ENST00000439789.2_Silent_p.T328T|DAB1_ENST00000414851.2_Silent_p.T396T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.T412T|DAB1_ENST00000371234.4_Silent_p.T414T|DAB1_ENST00000371236.2_Silent_p.T414T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	447					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AATCCTTAAACGTTTCTTTGC	0.602																																						uc009vzx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1240-1242)acG>acA		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	77	77	77		1242	1.7	1	1	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DAB1	NM_021080.3		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		414/556	57480758	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57480758C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1341G>A	1.37:g.57480758C>T						DAB1_uc001cyt.1_Silent_p.T412T|DAB1_uc001cyq.1_Silent_p.T412T|DAB1_uc001cyr.1_Silent_p.T328T|DAB1_uc009vzw.1_Silent_p.T396T|DAB1_uc001cys.1_Silent_p.T414T	p.T414T	NM_021080	NP_066566	O75553	DAB1_HUMAN			11	1562	-			447					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1242G>A																																																																																					0.602	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		T	57480758	C	T	57480758	2	4	105	1	0	0	0	0	0	0	0	1	4217	523	19	1		1	DAB1	1	57480758	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	13662788	57480758	191769863	5	7179											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454524	114454524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttcagtgcacttaaggtCtacagatgaggagtttattt	11	16	9	5	0	2	2	1	1	1	1	2	3	2	3	0	2	2	2	0	2	3	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:114454524C>G	ENST00000369563.3	+	4	1756	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	437					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTAAGGTCTACAGATGAG	0.473								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1309-1311)tCt>tGt	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							162	180	174					1																	114454524		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454524C>G	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1310C>G	1.37:g.114454524C>G	ENSP00000358576:p.Ser437Cys					DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S311C	p.S437C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1604	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	437					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.1310C>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340537	0.60963	.	.	ENSG00000118655	ENST00000369563	T	0.76448	-1.02	5.35	4.44	0.53790	.	0.838530	0.10774	N	0.635614	T	0.50871	0.1641	L	0.27053	0.805	0.09310	N	1	P	0.47034	0.889	B	0.40702	0.338	T	0.42447	-0.9451	10	0.51188	T	0.08	-14.9423	9.8836	0.41249	0.0:0.9058:0.0:0.0942	.	437	Q9H816	DCR1B_HUMAN	C	437	ENSP00000358576:S437C	ENSP00000358576:S437C	S	+	2	0	DCLRE1B	114256047	0.024000	0.19004	0.003000	0.11579	0.384000	0.30261	1.803000	0.38863	1.276000	0.44395	0.655000	0.94253	TCT		0.473	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		G	114454524	C	G	114454524	3	3	105	1	0	0	0	0	1	0	0	0	4295	913	32	5	1324	5	DCLRE1B	1	114454524	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	56973766	114454524	134796097	6	7180											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-																															tctcccagtcccgcaaaggcTtttccccctccgctgcctcc																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						uc001frr.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)cttfs		Homo sapiens CD1d molecule (CD1D), mRNA.							202	226	218					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs					CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	p.L25fs	NM_001766	NP_001757	P15813	CD1D_HUMAN			2	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		-	158151257	T	-	158151257	7	5	105	1	0	1	0	1	0	0	0	0	2977	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-06-6697-01A-11D-1845-08	43696733	158151257	91099364	7	7181											
CRB1	23418	broad.mit.edu	37	chr1	197313558	197313558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcaacactgatgagtgtgCcagtcaaccttgtctccatg	10	11	8	12	0	3	2	2	2	1	0	4	2	3	2	3	0	3	0	3	0	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:197313558C>A	ENST00000367400.3	+	3	935	c.800C>A	c.(799-801)gCc>gAc	p.A267D	CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.A198D|CRB1_ENST00000538660.1_Missense_Mutation_p.A267D|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	267	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGAGTGTGCCAGTCAACCT	0.512																																						uc001gtz.3																			0		p.C266C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(799-801)gCc>gAc		Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.							241	213	222					1																	197313558		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313558C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.800C>A	1.37:g.197313558C>A	ENSP00000356370:p.Ala267Asp					CRB1_uc010poz.2_Missense_Mutation_p.A198D|CRB1_uc001gty.2_Missense_Mutation_p.A267D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.A267D|CRB1_uc010ppc.1_Non-coding_Transcript	p.A267D	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	1009	+			267			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.800C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368550	0.11352	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	T;T;D	0.95238	-0.09;-0.09;-3.65	5.25	-0.195	0.13236	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89241	0.6659	L	0.38733	1.17	0.09310	N	0.999999	P;P;B;B	0.40731	0.728;0.673;0.007;0.063	B;B;B;B	0.43018	0.138;0.405;0.004;0.063	T	0.80070	-0.1536	9	0.12103	T	0.63	.	6.7827	0.23654	0.3285:0.5309:0.0:0.1406	.	267;198;267;292	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	D	198;267;267	ENSP00000438786:A198D;ENSP00000438091:A267D;ENSP00000356370:A267D	ENSP00000356370:A267D	A	+	2	0	CRB1	195580181	0.000000	0.05858	0.957000	0.39632	0.055000	0.15305	-0.518000	0.06267	0.543000	0.28864	0.650000	0.86243	GCC		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		A	197313558	C	A	197313558	3	1	105	1	0	0	0	0	1	0	0	0	3848	739	26	5	810	5	CRB1	1	197313558	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	39162301	197313558	51937063	8	7182											
IGFN1	91156	broad.mit.edu	37	chr1	201190709	201190709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgtgcagctcagacagtCtccagtggctcccgtgccat	7	9	11	14	1	2	1	1	0	1	1	4	1	3	1	3	1	4	4	3	1	0	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:201190709C>T	ENST00000335211.4	+	19	10166	c.10036C>T	c.(10036-10038)Ctc>Ttc	p.L3346F	IGFN1_ENST00000295591.8_Missense_Mutation_p.L506F|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	889						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAGACAGTCTCCAGTGGCT	0.632																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10036-10038)Ctc>Ttc		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							50	41	45					1																	201190709		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201190709C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10036C>T	1.37:g.201190709C>T	ENSP00000334714:p.Leu3346Phe					IGFN1_uc001gwb.3_Non-coding_Transcript	p.L3346F	NM_001164586	NP_001158058					18	10166	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10036C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282496|2.282496	0.40394|0.40394	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|T	0.57595|0.57752	0.39;0.39|0.38	4.36|4.36	2.44|2.44	0.29823|0.29823	.|.	0.520238|.	0.15611|.	N|.	0.253389|.	T|T	0.57695|0.57695	0.2071|0.2071	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	D|.	0.69078|.	0.997|.	D|.	0.66716|.	0.946|.	T|T	0.48536|0.48536	-0.9027|-0.9027	10|6	0.41790|.	T|.	0.15|.	.|.	8.6777|8.6777	0.34189|0.34189	0.1711:0.664:0.1649:0.0|0.1711:0.664:0.1649:0.0	.|.	3346|.	F8WAI1|.	.|.	F|F	3346;506|763	ENSP00000334714:L3346F;ENSP00000295591:L506F|ENSP00000387975:S763F	ENSP00000295591:L506F|.	L|S	+|+	1|2	0|0	IGFN1|IGFN1	199457332|199457332	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.109000|0.109000	0.19521|0.19521	0.124000|0.124000	0.15728|0.15728	0.288000|0.288000	0.22398|0.22398	0.305000|0.305000	0.20034|0.20034	CTC|TCT		0.632	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201190709	C	T	201190709	3	4	105	1	0	0	0	0	1	0	0	0	7590	913	32	3	10106	3	IGFN1	1	201190709	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	3877151	201190709	48059912	9	7183											
TLR5	7100	broad.mit.edu	37	chr1	223285038	223285038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctggagatgaggtacccGtaggagaaagtagagaatat	16	8	13	4	1	1	4	0	1	1	3	1	7	1	4	1	3	1	3	1	3	7	4	rs200696063		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:223285038G>A	ENST00000540964.1	-	4	1797	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TLR5_ENST00000342210.6_Missense_Mutation_p.R446W			O60602	TLR5_HUMAN	toll-like receptor 5	446			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGTACCCGTAGGAGAAAG	0.403																																						uc021pjl.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1336-1338)Cgg>Tgg		Homo sapiens toll-like receptor 5 (TLR5), mRNA.							82	85	84					1																	223285038		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285038G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1336C>T	1.37:g.223285038G>A	ENSP00000440643:p.Arg446Trp					TLR5_uc001hnv.2_Missense_Mutation_p.R446W|TLR5_uc001hnw.2_Missense_Mutation_p.R446W	p.R446W	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	0	1336	-			446		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1336C>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193316	0.22037	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.25250	1.81;1.81;1.81	5.59	3.7	0.42460	.	0.583657	0.18186	N	0.148971	T	0.32376	0.0827	L	0.60455	1.87	0.09310	N	1	D	0.53312	0.959	P	0.46917	0.531	T	0.13683	-1.0500	10	0.87932	D	0	.	12.7812	0.57479	0.0:0.1257:0.7432:0.1311	.	446	O60602	TLR5_HUMAN	W	446	ENSP00000440643:R446W;ENSP00000355846:R446W;ENSP00000340089:R446W	ENSP00000340089:R446W	R	-	1	2	TLR5	221351661	0.077000	0.21312	0.056000	0.19401	0.002000	0.02628	1.137000	0.31479	0.691000	0.31592	-0.156000	0.13503	CGG		0.403	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223285038	G	A	223285038	3	1	105	1	0	0	0	0	1	0	0	0	15951	1144	40	1	1244	1	TLR5	1	223285038	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	22094329	223285038	25965583	10	7184											
C1orf150	148823	broad.mit.edu	37	chr1	247712504	247712504	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgaaaagatgggaaattAtctcctgcgaaaactcaggt	14	10	10	7	1	2	2	1	1	1	1	3	4	2	3	1	2	2	0	1	2	6	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:247712504A>T	ENST00000366488.4	+	1	115	c.11A>T	c.(10-12)tAt>tTt	p.Y4F	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.Y4F|GCSAML_ENST00000366491.2_Missense_Mutation_p.Y4F|GCSAML_ENST00000366490.3_Missense_Mutation_p.I125F|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Missense_Mutation_p.Y4F	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	4																	ATGGGAAATTATCTCCTGCGA	0.473																																						uc001idf.3																			0		p.N3K(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15						c.(10-12)tAt>tTt		Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.							101	93	95					1																	247712504		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247712504A>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.11A>T	1.37:g.247712504A>T	ENSP00000355444:p.Tyr4Phe					C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	p.Y4F	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		0	158	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		4					B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.11A>T	CCDS1635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.36|12.36	1.913533|1.913533	0.33815|0.33815	.|.	.|.	ENSG00000169224|ENSG00000169224	ENST00000366490|ENST00000366491;ENST00000366489;ENST00000526896;ENST00000366488;ENST00000536561	.|.	.|.	.|.	3.41|3.41	-4.93|-4.93	0.03066|0.03066	.|.	.|.	.|.	.|.	.|.	T|T	0.10594|0.10594	0.0259|0.0259	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P	.|0.42296	.|0.775	.|B	.|0.35240	.|0.198	T|T	0.26395|0.26395	-1.0104|-1.0104	5|8	.|0.07482	.|T	.|0.82	2.0445|2.0445	6.1802|6.1802	0.20468|0.20468	0.1865:0.4126:0.4009:0.0|0.1865:0.4126:0.4009:0.0	.|.	.|4	.|Q5JQS6	.|CA150_HUMAN	F|F	125|4	.|.	.|ENSP00000355444:Y4F	I|Y	+|+	1|2	0|0	C1orf150|C1orf150	245779127|245779127	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.964000|0.964000	0.63967|0.63967	-1.005000|-1.005000	0.03674|0.03674	-0.953000|-0.953000	0.03645|0.03645	0.482000|0.482000	0.46254|0.46254	ATC|TAT		0.473	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		T	247712504	A	T	247712504	3	4	105	1	0	0	0	0	1	0	0	0	2004	449	16	5	13	5	C1orf150	1	247712504	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	24427466	247712504	1538117	11	7185											
EPAS1	2034	broad.mit.edu	37	chr2	46609718	46609718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggactacagcctgtcGtcagcccacaaggtgtcagg	10	7	11	13	1	2	0	2	0	0	0	3	1	2	1	3	3	4	0	3	3	3	2	rs4953362	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:46609718G>A	ENST00000263734.3	+	15	2952	c.2442G>A	c.(2440-2442)tcG>tcA	p.S814S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	814					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCTGTCGTCAGCCCACA	0.607													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		19036	0		0	False		,,,				2504	0					uc002ruv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2440-2442)tcG>tcA		Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.		G		7,4399	12.9+/-30.5	0,7,2196	63	59	60		2442	-11.3	0	2	dbSNP_111	60	0,8600		0,0,4300	no	coding-synonymous	EPAS1	NM_001430.4		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		814/871	46609718	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46609718G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2442G>A	2.37:g.46609718G>A						EPAS1_uc002ruw.3_Silent_p.S280S	p.S814S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		14	2952	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	814					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.2442G>A	CCDS1825.1																																																																																				0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		A	46609718	G	A	46609718	2	1	105	1	0	0	0	0	0	0	0	1	5150	1132	40	1		1	EPAS1	2	46609718	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		46609718	196589655	12	7186											
DARS	1615	broad.mit.edu	37	chr2	136682064	136682074	+	Splice_Site	DEL	GATGTCTAGAA	GATGTCTAGAA	-																															ggaagactgcctgactagttGatgtctagaagacagtaata																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:136682064_136682074delGATGTCTAGAA	ENST00000264161.4	-	8	780_784	c.565_569delTTCTAGACATC	c.(565-570)ttctag>g	p.F*189fs	DARS_ENST00000537273.1_Splice_Site_p.F*89fs	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	189					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTGACTAGTTGATGTCTAGAAGACAGTAATA	0.374																																						uc002tux.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.e8-1		Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	L-Aspartic Acid(DB00128)																																			SO:0001630	splice_region_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136682064_136682074delGATGTCTAGAA	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.565-1TTCTAGACATC>-	2.37:g.136682064_136682074delGATGTCTAGAA						DARS_uc010fnj.1_Splice_Site_p.T89_splice	p.T189_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	8	749	-			189					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Splice_Site	DEL	ENST00000264161.4	37	c.565_splice	CCDS2180.1																																																																																				0.374	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349	Frame_Shift_Del	-	136682074	GATGTCTAGAA	-	136682064	8	5	105	1	0	1	0	1	0	0	1	0	4241	1294	45	0	972	0	DARS	2	136682064	Splice_Site	DEL	GATGTCTAGAA	TCGA-06-6697-01A-11D-1845-08	90072346	136682064	106517309	13	7187											
THSD7B	80731	broad.mit.edu	37	chr2	138373761	138373761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcatgcgatccccacaCaatgcagagaagaactcgcc	14	6	8	13	2	1	2	1	0	0	2	3	4	2	2	3	0	3	1	3	0	4	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:138373761C>T	ENST00000409968.1	+	18	3618	c.3440C>T	c.(3439-3441)aCa>aTa	p.T1147I	THSD7B_ENST00000272643.3_Missense_Mutation_p.T1150I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1119I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1149	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCCCACACAATGCAGAGA	0.418																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3349-3351)aCa>aTa		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							119	124	123					2																	138373761		2081	4209	6290	SO:0001583	missense	80731							g.chr2:138373761C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3440C>T	2.37:g.138373761C>T	ENSP00000387145:p.Thr1147Ile					THSD7B_uc010zbj.1_Intron	p.T1117I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	16	3350	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3350C>T		.	.	.	.	.	.	.	.	.	.	C	14.48	2.548899	0.45383	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.52754	0.65;0.65;0.65	5.21	5.21	0.72293	.	0.455504	0.23928	N	0.043162	T	0.46054	0.1373	L	0.54323	1.7	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.30238	-0.9985	10	0.30078	T	0.28	.	17.6743	0.88226	0.0:1.0:0.0:0.0	.	1119	C9JKN6	.	I	1147;1150;1119	ENSP00000387145:T1147I;ENSP00000272643:T1150I;ENSP00000413841:T1119I	ENSP00000272643:T1150I	T	+	2	0	THSD7B	138090231	0.746000	0.28272	0.996000	0.52242	0.990000	0.78478	0.962000	0.29280	2.708000	0.92522	0.655000	0.94253	ACA		0.418	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	138373761	C	T	138373761	3	4	105	1	0	0	0	0	1	0	0	0	15877	478	17	3	3418	3	THSD7B	2	138373761	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	1691697	138373761	104825612	14	7188											
FAP	2191	broad.mit.edu	37	chr2	163074520	163074520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtatggaatatttattgtTctaggatattgttcatcgcc	9	17	10	5	1	2	0	1	0	1	0	3	2	2	2	1	3	0	3	1	3	6	10			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:163074520T>A	ENST00000188790.4	-	9	945	c.738A>T	c.(736-738)agA>agT	p.R246S	FAP_ENST00000443424.1_Missense_Mutation_p.R221S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTTATTGTTCTAGGATATT	0.353																																						uc002ucd.3																			0		p.P245L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(736-738)agA>agT		Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.							96	101	99					2																	163074520		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163074520T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.738A>T	2.37:g.163074520T>A	ENSP00000188790:p.Arg246Ser					FAP_uc010zct.2_Missense_Mutation_p.R221S|FAP_uc010fpe.1_Missense_Mutation_p.R213S	p.R246S	NM_004460	NP_004451	Q12884	SEPR_HUMAN			8	946	-			246						Missense_Mutation	SNP	ENST00000188790.4	37	c.738A>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439489	0.43326	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29917	1.55;1.64	5.74	4.55	0.56014	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.201896	0.53938	D	0.000053	T	0.26048	0.0635	L	0.47716	1.5	0.49798	D	0.999828	B;B;B	0.25169	0.012;0.119;0.119	B;B;B	0.24701	0.055;0.032;0.032	T	0.04090	-1.0978	10	0.20519	T	0.43	-27.2199	10.9801	0.47488	0.0:0.0792:0.0:0.9208	.	221;246;246	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	S	246;221	ENSP00000188790:R246S;ENSP00000411391:R221S	ENSP00000188790:R246S	R	-	3	2	FAP	162782766	0.961000	0.32948	1.000000	0.80357	0.930000	0.56654	0.360000	0.20250	1.049000	0.40321	0.460000	0.39030	AGA		0.353	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			A	163074520	T	A	163074520	3	1	105	1	0	0	0	0	1	0	0	0	5673	1780	62	5	1616	5	FAP	2	163074520	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	24700759	163074520	80124853	15	7189											
DHRS9	10170	broad.mit.edu	37	chr2	169939876	169939876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgctggtgttcccggCgtgctggctcccactgactg	6	11	12	12	2	0	1	0	1	0	0	2	1	2	1	2	3	2	4	2	3	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:169939876C>T	ENST00000327239.4	+	6	1855	c.351C>T	c.(349-351)ggC>ggT	p.G117G	DHRS9_ENST00000357546.2_Silent_p.G117G|DHRS9_ENST00000436483.2_Silent_p.G117G|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Silent_p.G117G|DHRS9_ENST00000432060.2_Silent_p.G177G|DHRS9_ENST00000428522.1_Silent_p.G117G|DHRS9_ENST00000412271.1_Silent_p.G117G	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	117					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTTCCCGGCGTGCTGGCTC	0.468																																						uc010zdc.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(529-531)ggC>ggT		Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.							120	103	109					2																	169939876		2203	4300	6503	SO:0001819	synonymous_variant	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939876C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.351C>T	2.37:g.169939876C>T						DHRS9_uc002uep.3_Silent_p.G117G|DHRS9_uc002ueq.3_Silent_p.G117G|DHRS9_uc010zdd.2_Silent_p.G117G|DHRS9_uc010zde.2_Silent_p.G117G	p.G177G	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN			2	643	+			117					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	c.531C>T	CCDS2231.1																																																																																				0.468	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		T	169939876	C	T	169939876	2	4	105	1	0	0	0	0	0	0	0	1	4498	755	27	1		1	DHRS9	2	169939876	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	6865356	169939876	73259497	16	7190											
TTN	7273	broad.mit.edu	37	chr2	179599471	179599471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgcagctatcactgccGacgtcattcactgcttcaca	9	11	7	14	2	4	0	4	0	0	0	4	1	4	0	1	0	5	4	1	0	2	4	rs376217206		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:179599471G>A	ENST00000591111.1	-	49	14453	c.14229C>T	c.(14227-14229)gtC>gtT	p.V4743V	TTN_ENST00000589042.1_Silent_p.V5060V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V3816V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12123	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V3816V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCACTGCCGACGTCATTCA	0.363													G|||	1	0.000199681	8e-04	0	5008	,	,		20524	0		0	False		,,,				2504	0					uc021vsy.1																			1	Substitution - coding silent(1)	p.V3816V(1)	large_intestine(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11446-11448)gtC>gtT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	2,3742		0,2,1870	150	146	147		,11448,,	-11.3	0.1	2		147	0,8228		0,0,4114	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5984	AA,AG,GG		0.0,0.0534,0.0167	,,,	,3816/33424,,	179599471	2,11970	1872	4114	5986	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599471G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14229C>T	2.37:g.179599471G>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V477V	p.V3816V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	11673	-			4743					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11448C>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179599471	G	A	179599471	2	1	105	1	0	0	0	0	0	0	0	1	16732	1045	37	2		2	TTN	2	179599471	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	9659595	179599471	63599902	17	7191											
DGKD	8527	broad.mit.edu	37	chr2	234363420	234363420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcagagagtattacaCggagaaatgtgtcatgaaca	14	10	10	7	1	1	3	1	1	0	2	1	5	1	3	1	1	3	2	1	1	4	3	rs376456548		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:234363420C>G	ENST00000264057.2	+	19	2288	c.2276C>G	c.(2275-2277)aCg>aGg	p.T759R	DGKD_ENST00000409813.3_Missense_Mutation_p.T715R	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	759					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGTATTACACGGAGAAATGT	0.453																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2275-2277)aCg>aGg		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						129	117	121					2																	234363420		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234363420C>G	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2276C>G	2.37:g.234363420C>G	ENSP00000264057:p.Thr759Arg					DGKD_uc002vuj.1_Missense_Mutation_p.T715R|DGKD_uc010fyh.1_Missense_Mutation_p.T626R|DGKD_uc010fyi.1_Non-coding_Transcript	p.T759R	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	18	2288	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	759					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2276C>G	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	5.515	0.279952	0.10458	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80393	-1.21;-1.37	4.11	4.11	0.48088	.	0.159299	0.40469	N	0.001081	T	0.76176	0.3951	L	0.57536	1.79	0.43054	D	0.994667	B;P;B	0.39391	0.031;0.671;0.018	B;B;B	0.42343	0.007;0.384;0.011	T	0.71530	-0.4565	10	0.11794	T	0.64	.	11.5332	0.50622	0.0:0.9126:0.0:0.0874	.	643;715;759	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	R	759;715	ENSP00000264057:T759R;ENSP00000386455:T715R	ENSP00000264057:T759R	T	+	2	0	DGKD	234028159	0.979000	0.34478	0.446000	0.26920	0.050000	0.14768	2.527000	0.45615	2.305000	0.77605	0.643000	0.83706	ACG		0.453	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		G	234363420	C	G	234363420	3	3	105	1	0	0	0	0	1	0	0	0	4467	536	19	5	2374	5	DGKD	2	234363420	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	54763949	234363420	8835953	18	7192											
KCNH8	131096	broad.mit.edu	37	chr3	19574969	19574969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaaacgttctgtcacCtcagcagccatcacggtttt	9	12	8	12	2	5	0	3	0	2	0	5	1	5	1	2	2	3	3	2	2	2	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:19574969C>T	ENST00000328405.2	+	16	2968	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	901					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTTCTGTCACCTCAGCAGCCA	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0		p.S900T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2701-2703)cCt>cTt		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							118	102	107					3																	19574969		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19574969C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2702C>T	3.37:g.19574969C>T	ENSP00000328813:p.Pro901Leu					KCNH8_uc010hex.1_Missense_Mutation_p.P362L	p.P901L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	2897	+			901					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2702C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005064	0.35415	.	.	ENSG00000183960	ENST00000328405	D	0.98747	-5.11	5.68	4.78	0.61160	.	0.605470	0.12105	U	0.499104	D	0.96312	0.8797	L	0.40543	1.245	0.58432	D	0.999999	B	0.18968	0.032	B	0.19946	0.027	D	0.93262	0.6644	9	.	.	.	.	9.2226	0.37386	0.1465:0.7812:0.0:0.0723	.	901	Q96L42	KCNH8_HUMAN	L	901	ENSP00000328813:P901L	.	P	+	2	0	KCNH8	19549973	0.247000	0.23920	0.997000	0.53966	0.890000	0.51754	3.067000	0.50010	1.332000	0.45431	0.655000	0.94253	CCT		0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19574969	C	T	19574969	3	4	105	1	0	0	0	0	1	0	0	0	8038	681	24	3	2764	3	KCNH8	3	19574969	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		19574969	178447461	19	7193											
NBEAL2	23218	broad.mit.edu	37	chr3	47041686	47041686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggaacggtctagtgtagGatcaggcaacactgctggtg	9	9	14	9	1	2	0	1	0	1	0	2	2	2	2	1	5	3	3	1	5	4	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:47041686G>T	ENST00000450053.3	+	27	4276	c.4097G>T	c.(4096-4098)gGa>gTa	p.G1366V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.G1182V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1366					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTAGTGTAGGATCAGGCAAC	0.637																																						uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4096-4098)gGa>gTa		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							104	110	108					3																	47041686		2104	4221	6325	SO:0001583	missense	23218						binding	g.chr3:47041686G>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4097G>T	3.37:g.47041686G>T	ENSP00000415034:p.Gly1366Val					NBEAL2_uc010hjm.2_Splice_Site_p.G743_splice|NBEAL2_uc010hjn.2_5'Flank	p.G1366V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	26	4276	+		Acute lymphoblastic leukemia(5;0.0534)	1366					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4097G>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677828|1.677828	0.29783|0.29783	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.57595	.|0.46;0.39	5.48|5.48	3.68|3.68	0.42216|0.42216	.|.	.|0.056297	.|0.64402	.|D	.|0.000002	T|T	0.49508|0.49508	0.1561|0.1561	L|L	0.50333|0.50333	1.59|1.59	0.32817|0.32817	D|D	0.502278|0.502278	.|P	.|0.36065	.|0.535	.|B	.|0.40506	.|0.331	T|T	0.62445|0.62445	-0.6853|-0.6853	5|10	.|0.87932	.|D	.|0	.|.	10.299|10.299	0.43642|0.43642	0.1634:0.0:0.8366:0.0|0.1634:0.0:0.8366:0.0	.|.	.|1366	.|Q6ZNJ1	.|NBEL2_HUMAN	Y|V	654|1182;1366	.|ENSP00000292309:G1182V;ENSP00000415034:G1366V	.|ENSP00000292309:G1182V	D|G	+|+	1|2	0|0	NBEAL2|NBEAL2	47016690|47016690	0.081000|0.081000	0.21417|0.21417	0.390000|0.390000	0.26220|0.26220	0.486000|0.486000	0.33341|0.33341	1.852000|1.852000	0.39348|0.39348	0.673000|0.673000	0.31224|0.31224	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47041686	G	T	47041686	3	4	105	1	0	0	0	0	1	0	0	0	10189	1174	41	5	4203	5	NBEAL2	3	47041686	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	27466717	47041686	150980744	20	7194											
CELSR3	1951	broad.mit.edu	37	chr3	48685382	48685382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtagcgagggtagcgacGggccccccggggagaactgg	8	4	19	10	4	0	1	0	0	0	1	0	4	0	1	3	6	3	2	3	6	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:48685382G>A	ENST00000164024.4	-	20	7301	c.7021C>T	c.(7021-7023)Cgt>Tgt	p.R2341C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2346C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2341					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTAGCGACGGGCCCCCCGG	0.632																																						uc003cuf.1																			0		p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7231-7233)Cgt>Tgt		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							104	115	111					3																	48685382		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685382G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7021C>T	3.37:g.48685382G>A	ENSP00000164024:p.Arg2341Cys					CELSR3_uc010hkg.3_Missense_Mutation_p.R324C|CELSR3_uc003cul.3_Missense_Mutation_p.R2341C	p.R2411C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7231	-			2341					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7231C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902759	0.33628	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09723	2.95;2.95	4.94	4.0	0.46444	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.22898	0.0553	L	0.57536	1.79	0.19945	N	0.999946	B;D	0.65815	0.092;0.995	B;P	0.56823	0.017;0.807	T	0.02498	-1.1150	9	0.56958	D	0.05	.	11.7918	0.52073	0.0:0.0:0.7121:0.2879	.	2341;2411	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2341;2346	ENSP00000164024:R2341C;ENSP00000445694:R2346C	ENSP00000164024:R2341C	R	-	1	0	CELSR3	48660386	0.969000	0.33509	0.307000	0.25127	0.728000	0.41692	2.398000	0.44486	2.459000	0.83118	0.462000	0.41574	CGT		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48685382	G	A	48685382	3	1	105	1	0	0	0	0	1	0	0	0	3223	1116	39	2	2981	2	CELSR3	3	48685382	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	1643696	48685382	149337048	21	7195											
DNAJC13	23317	broad.mit.edu	37	chr3	132217972	132217972	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccattggttatttcagatTtacagccttataaatatgca	14	15	5	7	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	7	8			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132217972T>A	ENST00000260818.6	+	37	4407	c.4159T>A	c.(4159-4161)Tta>Ata	p.L1387I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1387					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTTCAGATTTACAGCCTTA	0.328																																						uc003eor.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4159-4161)Tta>Ata		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.							61	58	59					3																	132217972		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132217972T>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4159T>A	3.37:g.132217972T>A	ENSP00000260818:p.Leu1387Ile						p.L1387I	NM_015268	NP_056083	O75165	DJC13_HUMAN			36	4224	+			1387					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4159T>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993941	0.74703	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.49720	0.77	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.69097	0.3073	M	0.86028	2.79	0.58432	D	0.999999	D	0.69078	0.997	D	0.78314	0.991	T	0.73852	-0.3852	10	0.72032	D	0.01	.	10.0139	0.42003	0.0:0.0759:0.0:0.9241	.	1387	O75165	DJC13_HUMAN	I	1387;34	ENSP00000260818:L1387I	ENSP00000260818:L1387I	L	+	1	2	DNAJC13	133700662	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.716000	0.54904	2.148000	0.66965	0.454000	0.30748	TTA		0.328	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		A	132217972	T	A	132217972	3	1	105	1	0	0	0	0	1	0	0	0	4632	1838	64	5	4301	5	DNAJC13	3	132217972	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	83532590	132217972	65804458	22	7196											
ACAD11	84129	broad.mit.edu	37	chr3	132361623	132361623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgaaaacaaggctttCtggactttaaattctctatc	13	14	5	9	0	2	1	0	1	2	0	4	2	2	2	1	2	1	1	1	2	7	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132361623C>A	ENST00000264990.6	-	3	1244	c.273G>T	c.(271-273)caG>caT	p.Q91H	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.Q91H|ACAD11_ENST00000481970.2_Missense_Mutation_p.Q91H	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	91					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACAAGGCTTTCTGGACTTTAA	0.323																																						uc003eov.4																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(271-273)caG>caT		Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.							87	92	90					3																	132361623		2203	4300	6503	SO:0001583	missense	84129				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132361623C>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.273G>T	3.37:g.132361623C>A	ENSP00000264990:p.Gln91His						p.Q91H	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN			2	653	-			511					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.273G>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030370	0.75504	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.28895	1.59;1.59;1.59	6.06	6.06	0.98353	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.63745	0.2537	M	0.92970	3.365	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.67382	0.886;0.951	T	0.71477	-0.4581	9	0.87932	D	0	.	14.7322	0.69391	0.0:0.9314:0.0:0.0686	.	91;91	D6RDI8;Q709F0	.;ACD11_HUMAN	H	91	ENSP00000347636:Q91H;ENSP00000264990:Q91H;ENSP00000420907:Q91H	ENSP00000264990:Q91H	Q	-	3	2	ACAD11	133844313	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.307000	0.59123	2.882000	0.98803	0.655000	0.94253	CAG		0.323	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		A	132361623	C	A	132361623	3	1	105	1	0	0	0	0	1	0	0	0	109	912	32	5	2141	5	ACAD11	3	132361623	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	143651	132361623	65660807	23	7197											
ATP11B	23200	broad.mit.edu	37	chr3	182559871	182559871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttttgatagattcatggGacgaatgatcataacccaac	14	13	7	7	1	2	3	2	2	0	1	2	5	2	4	1	1	2	0	1	1	4	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:182559871G>T	ENST00000323116.5	+	8	925	c.665G>T	c.(664-666)gGa>gTa	p.G222V	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	222					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATTCATGGGACGAATGATC	0.299																																						uc003flb.3																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(664-666)gGa>gTa		Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.							88	91	90					3																	182559871		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182559871G>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.665G>T	3.37:g.182559871G>T	ENSP00000321195:p.Gly222Val						p.G222V	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		7	922	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		222					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.665G>T	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516700|4.516700	0.85495|0.85495	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|D	.|0.82711	.|-1.64	5.72|5.72	5.72|5.72	0.89469|0.89469	.|ATPase, P-type, ATPase-associated domain (1);	.|0.050037	.|0.85682	.|D	.|0.000000	D|D	0.94686|0.94686	0.8286|0.8286	H|H	0.97265|0.97265	3.97|3.97	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.96166|0.96166	0.9119|0.9119	5|10	.|0.87932	.|D	.|0	.|.	18.0583|18.0583	0.89369|0.89369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222	.|Q9Y2G3	.|AT11B_HUMAN	Y|V	23|222	.|ENSP00000321195:G222V	.|ENSP00000321195:G222V	D|G	+|+	1|2	0|0	ATP11B|ATP11B	184042565|184042565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.209000|7.209000	0.77916|0.77916	2.710000|2.710000	0.92621|0.92621	0.585000|0.585000	0.79938|0.79938	GAC|GGA		0.299	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		T	182559871	G	T	182559871	3	4	105	1	0	0	0	0	1	0	0	0	1120	1174	41	5	695	5	ATP11B	3	182559871	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	50198248	182559871	15462559	24	7198											
DNAH5	1767	broad.mit.edu	37	chr5	13717485	13717485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagtggcattaaagtccGcttggttaaattcgtagggg	10	11	13	7	2	0	0	0	0	0	0	2	0	1	0	1	4	0	5	1	4	5	5	rs200969063		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:13717485G>A	ENST00000265104.4	-	73	12748	c.12644C>T	c.(12643-12645)gCg>gTg	p.A4215V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4215	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTAAAGTCCGCTTGGTTAAA	0.532									Kartagener syndrome				G|||	1	0.000199681	0	0.0014	5008	,	,		16913	0		0	False		,,,				2504	0					uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12643-12645)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							75	64	68					5																	13717485		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13717485G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12644C>T	5.37:g.13717485G>A	ENSP00000265104:p.Ala4215Val					DNAH5_uc003jfc.2_Missense_Mutation_p.A383V	p.A4215V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12686	-	Lung NSC(4;0.00476)		4215			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12644C>T	CCDS3882.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.172449	0.94807	.	.	ENSG00000039139	ENST00000265104	T	0.10477	2.87	5.54	5.54	0.83059	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.54510	-0.8283	10	0.87932	D	0	.	19.4892	0.95044	0.0:0.0:1.0:0.0	.	4215	Q8TE73	DYH5_HUMAN	V	4215	ENSP00000265104:A4215V	ENSP00000265104:A4215V	A	-	2	0	DNAH5	13770485	1.000000	0.71417	0.838000	0.33150	0.708000	0.40852	9.843000	0.99491	2.604000	0.88044	0.655000	0.94253	GCG		0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13717485	G	A	13717485	3	1	105	1	0	0	0	0	1	0	0	0	4604	1087	38	1	1258	1	DNAH5	5	13717485	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		13717485	167197775	25	7199											
C5orf42	65250	broad.mit.edu	37	chr5	37183582	37183582	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtcagcatccctggaataAggtaggtctctttcaagaat	12	12	9	8	0	3	1	2	0	1	1	5	2	4	2	1	3	1	2	1	3	5	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:37183582A>C	ENST00000508244.1	-	25	4794	c.4701T>G	c.(4699-4701)ccT>ccG	p.P1567P	C5orf42_ENST00000274258.7_Silent_p.P448P|C5orf42_ENST00000425232.2_Silent_p.P1567P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1567						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCTGGAATAAGGTAGGTCTC	0.323																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4699-4701)ccT>ccG		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							68	69	69					5																	37183582		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37183582A>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4701T>G	5.37:g.37183582A>C						C5orf42_uc011coy.1_Silent_p.P68P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P642P|C5orf42_uc011cpb.1_Silent_p.P448P	p.P1567P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		25	4932	-	all_lung(31;0.000616)		1567					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.4701T>G	CCDS34146.2																																																																																				0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37183582	A	C	37183582	2	2	105	1	0	0	0	0	0	0	0	1	2301	59	3	5		5	C5orf42	5	37183582	Silent	SNP	A	TCGA-06-6697-01A-11D-1845-08	23466097	37183582	143731678	26	7200											
IRF1	3659	broad.mit.edu	37	chr5	131821402	131821402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcctcatcctcatctGttgtagctgtggatggggaa	6	14	10	11	0	3	0	2	0	1	0	6	2	6	2	3	3	1	3	3	3	2	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:131821402G>A	ENST00000245414.4	-	8	932	c.674C>T	c.(673-675)aCa>aTa	p.T225I	IRF1_ENST00000405885.2_Missense_Mutation_p.T225I|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	225					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATCCTCATCTGTTGTAGCTGT	0.542																																						uc003kxa.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(673-675)aCa>aTa		Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.							262	190	214					5																	131821402		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131821402G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.674C>T	5.37:g.131821402G>A	ENSP00000245414:p.Thr225Ile					C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.T225I|IRF1_uc010jdt.2_Missense_Mutation_p.T225I	p.T225I	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	7	908	-		all_cancers(142;0.026)|Breast(839;0.198)	225					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.674C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842032	0.51057	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	D;D;D	0.99207	-1.92;-1.92;-5.56	5.63	5.63	0.86233	.	2.041440	0.01677	N	0.025929	D	0.98642	0.9545	L	0.60455	1.87	0.33414	D	0.578981	P;B	0.42039	0.769;0.376	B;B	0.41299	0.353;0.154	D	0.93307	0.6681	10	0.62326	D	0.03	-13.4046	12.5837	0.56406	0.0788:0.0:0.9212:0.0	.	225;225	Q5FBX3;P10914	.;IRF1_HUMAN	I	225;225;184	ENSP00000245414:T225I;ENSP00000384406:T225I;ENSP00000405655:T184I	ENSP00000245414:T225I	T	-	2	0	IRF1	131849301	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.458000	0.53014	2.826000	0.97356	0.655000	0.94253	ACA		0.542	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		A	131821402	G	A	131821402	3	1	105	1	0	0	0	0	1	0	0	0	7827	1377	48	3	315	3	IRF1	5	131821402	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	94637820	131821402	49093858	27	7201											
DSP	1832	broad.mit.edu	37	chr6	7576571	7576571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaattgaggaattatcGtgataactatcaggctttct	13	13	8	7	1	2	2	1	2	1	0	3	3	2	3	0	2	2	2	0	2	6	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:7576571G>A	ENST00000379802.3	+	19	3016	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	DSP_ENST00000418664.2_Missense_Mutation_p.R892H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	892	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAATTATCGTGATAACTAT	0.388																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2674-2676)cGt>cAt		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							109	112	111					6																	7576571		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7576571G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2675G>A	6.37:g.7576571G>A	ENSP00000369129:p.Arg892His					DSP_uc003mxq.1_Missense_Mutation_p.R892H|DSP_uc021yle.1_Missense_Mutation_p.R892H	p.R892H	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	18	2954	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	892			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2675G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945007	0.92593	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.34472	1.36;1.64	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.35158	0.0922	L	0.52011	1.625	0.46901	D	0.999248	D;D	0.71674	0.997;0.998	P;P	0.52481	0.572;0.7	T	0.10776	-1.0615	10	0.62326	D	0.03	.	13.7	0.62602	0.07:0.0:0.93:0.0	.	939;892	Q4LE79;P15924	.;DESP_HUMAN	H	892;892;697	ENSP00000369129:R892H;ENSP00000396591:R892H	ENSP00000369129:R892H	R	+	2	0	DSP	7521570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	5.071000	0.64382	2.865000	0.98341	0.655000	0.94253	CGT		0.388	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7576571	G	A	7576571	3	1	105	1	0	0	0	0	1	0	0	0	4781	1145	40	1	2749	1	DSP	6	7576571	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		7576571	163538496	28	7202											
OR10C1	442194	broad.mit.edu	37	chr6	29408603	29408603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctacgatccggccactgacCctctggtgtccctcttctat	5	12	8	16	2	3	1	0	1	3	0	5	2	5	1	4	2	1	1	4	2	2	3	rs200438931		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:29408603C>A	ENST00000444197.2	+	1	1521	c.811C>A	c.(811-813)Cct>Act	p.P271T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCACTGACCCTCTGGTGTC	0.552																																						uc011dlp.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(811-813)Cct>Act		Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.							207	225	218					6																	29408603		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408603C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.811C>A	6.37:g.29408603C>A	ENSP00000419119:p.Pro271Thr					OR11A1_uc010jrh.1_Intron	p.P271T	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			0	888	+			271					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.811C>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201354	0.38905	.	.	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.54	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	N	0.001553	T	0.00039	0.0001	N	0.01168	-0.975	0.09310	N	1	D	0.56521	0.976	P	0.62298	0.9	T	0.28235	-1.0050	10	0.87932	D	0	.	10.2968	0.43629	0.4975:0.5025:0.0:0.0	.	271	Q96KK4	O10C1_HUMAN	T	271	ENSP00000419119:P271T	ENSP00000419119:P271T	P	+	1	0	OR10C1	29516582	0.000000	0.05858	0.467000	0.27180	0.939000	0.58152	0.206000	0.17375	0.674000	0.31244	0.603000	0.83216	CCT		0.552	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			A	29408603	C	A	29408603	3	1	105	1	0	0	0	0	1	0	0	0	10898	623	22	5	813	5	OR10C1	6	29408603	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	21832032	29408603	141706464	29	7203											
ZNF318	24149	broad.mit.edu	37	chr6	43308071	43308072	+	Frame_Shift_Del	DEL	TC	TC	-																															ccttgtcatcctcctttactTctttcacagcctttgccttt																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:43308071_43308072delTC	ENST00000361428.2	-	10	3741_3742	c.3664_3665delGA	c.(3664-3666)gaafs	p.E1222fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1222	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCTTTACTTCTTTCACAGCC	0.45																																						uc003oux.3																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3664-3666)gaafs		Homo sapiens zinc finger protein 318 (ZNF318), mRNA.																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308071_43308072delTC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3664_3665delGA	6.37:g.43308071_43308072delTC	ENSP00000354964:p.Glu1222fs					ZNF318_uc003ouw.3_Intron	p.E1222fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		9	3742_3743	-			1222			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.3664_3665delGA	CCDS4895.2																																																																																				0.45	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		-	43308072	TC	-	43308071	7	5	105	1	0	1	0	1	0	0	0	0	17833	1783	62	0	3178	0	ZNF318	6	43308071	Frame_Shift_Del	DEL	TC	TCGA-06-6697-01A-11D-1845-08	13899468	43308071	127806996	30	7204											
FILIP1	27145	broad.mit.edu	37	chr6	76023523	76023523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctagttgttgagagaggaaGttagccttatcctgctcagt	9	14	11	7	0	2	2	1	1	1	1	3	4	3	3	2	1	2	4	2	1	4	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:76023523G>C	ENST00000237172.7	-	5	2355	c.2025C>G	c.(2023-2025)aaC>aaG	p.N675K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.N675K|FILIP1_ENST00000370020.1_Missense_Mutation_p.N576K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	675										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAGAGGAAGTTAGCCTTAT	0.438																																						uc010kbe.3																			0		p.S678S(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2032-2034)aaC>aaG		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							235	236	236					6																	76023523		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023523G>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2025C>G	6.37:g.76023523G>C	ENSP00000237172:p.Asn675Lys					FILIP1_uc003phy.1_Missense_Mutation_p.N675K|FILIP1_uc003phz.3_Missense_Mutation_p.N576K|FILIP1_uc003pia.3_Missense_Mutation_p.N675K|FILIP1_uc003pib.1_Missense_Mutation_p.N427K	p.N678K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2564	-			675					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2034C>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.309299	0.00237	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.13538	2.58;2.58;2.59	5.66	-3.38	0.04883	.	0.043974	0.85682	D	0.000000	T	0.00998	0.0033	N	0.02539	-0.55	0.24052	N	0.996048	B;B;B	0.28512	0.214;0.007;0.012	B;B;B	0.20767	0.031;0.01;0.023	T	0.32981	-0.9886	10	0.02654	T	1	-31.1347	15.9314	0.79663	0.6604:0.0:0.3396:0.0	.	675;675;675	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	675;675;576	ENSP00000376728:N675K;ENSP00000237172:N675K;ENSP00000359037:N576K	ENSP00000237172:N675K	N	-	3	2	FILIP1	76080243	0.012000	0.17670	0.409000	0.26459	0.949000	0.60115	-0.819000	0.04462	-0.788000	0.04504	0.563000	0.77884	AAC		0.438	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		C	76023523	G	C	76023523	3	2	105	1	0	0	0	0	1	0	0	0	5894	1020	36	5	1624	5	FILIP1	6	76023523	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	32715452	76023523	95091544	31	7205											
SDK1	221935	broad.mit.edu	37	chr7	4050626	4050626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggtgcatctgtcaaaCgttggccctgagatgacagg	10	9	14	8	1	2	2	1	2	1	1	2	4	2	3	1	4	2	2	1	4	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:4050626C>T	ENST00000404826.2	+	15	2299	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N	SDK1_ENST00000389531.3_Silent_p.N720N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	720	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCTGTCAAACGTTGGCCCTG	0.512																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2158-2160)aaC>aaT		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							75	69	71					7																	4050626		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4050626C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2160C>T	7.37:g.4050626C>T						SDK1_uc010kso.3_5'UTR	p.N720N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2299	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	720			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2160C>T	CCDS34590.1																																																																																				0.512	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4050626	C	T	4050626	2	4	105	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4050626	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08		4050626	155088037	32	7206											
PCLO	27445	broad.mit.edu	37	chr7	82579889	82579889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagagcagcatactgacCttccaaaattgcctgctctg	10	11	7	13	0	1	2	0	1	1	1	3	2	3	2	4	0	5	3	4	0	3	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82579889C>A	ENST00000333891.9	-	6	10352	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	PCLO_ENST00000423517.2_Missense_Mutation_p.G3339C|PCLO_ENST00000437081.1_Missense_Mutation_p.G59C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTGACCTTCCAAAATT	0.478																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10015-10017)Ggt>Tgt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							110	103	105					7																	82579889		1943	4150	6093	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579889C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10015G>T	7.37:g.82579889C>A	ENSP00000334319:p.Gly3339Cys					PCLO_uc003uhv.2_Missense_Mutation_p.G3339C|PCLO_uc010lec.3_Missense_Mutation_p.G304C	p.G3339C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	10304	-			3270						Missense_Mutation	SNP	ENST00000333891.9	37	c.10015G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289273	0.40494	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35973	2.22;2.22;1.28	5.17	4.29	0.51040	.	.	.	.	.	T	0.53965	0.1829	L	0.59436	1.845	0.43761	D	0.996274	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.65874	0.751;0.939;0.939	T	0.58555	-0.7616	9	0.87932	D	0	.	14.2239	0.65845	0.0:0.9267:0.0:0.0733	.	3270;3339;3339	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3270;3339;3339;59	ENSP00000334319:G3339C;ENSP00000388393:G3339C;ENSP00000393760:G59C	ENSP00000334319:G3339C	G	-	1	0	PCLO	82417825	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	2.864000	0.48404	1.304000	0.44892	0.563000	0.77884	GGT		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82579889	C	A	82579889	3	1	105	1	0	0	0	0	1	0	0	0	11583	681	24	5	5510	5	PCLO	7	82579889	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	78529263	82579889	76558774	33	7207											
PCLO	27445	broad.mit.edu	37	chr7	82784328	82784328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctttgctgggctaggCtgttgagctgagggttttgc	4	13	18	6	0	0	2	0	2	0	0	0	3	0	2	0	4	3	7	0	4	1	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82784328C>T	ENST00000333891.9	-	2	1966	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	PCLO_ENST00000423517.2_Silent_p.Q543Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGGCTAGGCTGTTGAGCTG	0.547																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1627-1629)caG>caA		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							227	232	231					7																	82784328		1993	4176	6169	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784328C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1629G>A	7.37:g.82784328C>T						PCLO_uc003uhv.2_Silent_p.Q543Q	p.Q543Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1918	-			489			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.1629G>A	CCDS47630.1																																																																																				0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82784328	C	T	82784328	2	4	105	1	0	0	0	0	0	0	0	1	11583	796	28	3		3	PCLO	7	82784328	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	204439	82784328	76354335	34	7208											
ABCB4	5244	broad.mit.edu	37	chr7	87049323	87049323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactcctacctgtcttagCattgctttaaaagccattga	11	13	5	12	0	1	1	0	1	1	0	2	1	2	1	3	0	4	2	3	0	4	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:87049323C>T	ENST00000265723.4	-	19	2496	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ABCB4_ENST00000359206.3_Missense_Mutation_p.M795I|ABCB4_ENST00000545634.1_Missense_Mutation_p.M795I|ABCB4_ENST00000453593.1_Missense_Mutation_p.M795I|ABCB4_ENST00000358400.3_Missense_Mutation_p.M795I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	795	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCTGTCTTAGCATTGCTTTAA	0.428																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2383-2385)atG>atA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							186	170	176					7																	87049323		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87049323C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2385G>A	7.37:g.87049323C>T	ENSP00000265723:p.Met795Ile					ABCB4_uc003uiw.1_Missense_Mutation_p.M795I|ABCB4_uc003uix.1_Missense_Mutation_p.M795I	p.M795I	NM_018849	NP_061337	P21439	MDR3_HUMAN			18	2461	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		795			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2385G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830595	0.50845	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	6.03	6.03	0.97812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.036687	0.85682	D	0.000000	D	0.85775	0.5775	L	0.43757	1.38	0.53688	D	0.999977	B;B;B	0.23185	0.023;0.016;0.081	B;B;B	0.34824	0.138;0.12;0.19	T	0.80525	-0.1344	10	0.34782	T	0.22	-21.6176	16.8032	0.85619	0.1292:0.8708:0.0:0.0	.	795;795;795	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	795	ENSP00000352135:M795I;ENSP00000351172:M795I;ENSP00000265723:M795I;ENSP00000392983:M795I;ENSP00000437465:M795I	ENSP00000265723:M795I	M	-	3	0	ABCB4	86887259	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.588000	0.46137	2.861000	0.98227	0.655000	0.94253	ATG		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87049323	C	T	87049323	3	4	105	1	0	0	0	0	1	0	0	0	43	710	25	3	1515	3	ABCB4	7	87049323	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	4264995	87049323	72089340	35	7209											
PIK3CG	5294	broad.mit.edu	37	chr7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgagattgtgaaagacGccacgacaattgccaaaatt	15	9	9	8	3	0	4	0	2	0	2	1	6	0	4	2	0	1	0	2	0	4	3	rs373006568		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:106523501G>A	ENST00000359195.3	+	8	2963	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A885T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A885T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	885	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGAAAGACGCCACGACAAT	0.478																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2653-2655)Gcc>Acc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.		G	THR/ALA	0,4406		0,0,2203	181	179	179		2653	5.1	0.9	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3CG	NM_002649.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	885/1103	106523501	1,13005	2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106523501G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2653G>A	7.37:g.106523501G>A	ENSP00000352121:p.Ala885Thr					PIK3CG_uc003vdu.3_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A885T	p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			7	2738	+			885			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2653G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713473	0.89112	0.0	1.16E-4	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.1	5.1	0.69264	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.048712	0.85682	D	0.000000	T	0.79257	0.4415	L	0.31804	0.96	0.80722	D	1	P	0.51057	0.941	P	0.49226	0.603	T	0.82410	-0.0471	10	0.87932	D	0	-12.8611	18.7203	0.91691	0.0:0.0:1.0:0.0	.	885	P48736	PK3CG_HUMAN	T	885;885;158;885	ENSP00000392258:A885T;ENSP00000419260:A885T;ENSP00000417623:A158T;ENSP00000352121:A885T	ENSP00000352121:A885T	A	+	1	0	PIK3CG	106310737	1.000000	0.71417	0.934000	0.37439	0.758000	0.43043	9.170000	0.94795	2.637000	0.89404	0.561000	0.74099	GCC		0.478	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106523501	G	A	106523501	3	1	105	1	0	0	0	0	1	0	0	0	11916	1087	38	1	2679	1	PIK3CG	7	106523501	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	19474178	106523501	52615162	36	7210											
ZNF282	8427	broad.mit.edu	37	chr7	148909483	148909483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggacctcttgtcccGgattaaacaggaggagcatc	10	8	11	12	1	1	0	0	0	1	0	3	4	2	4	3	4	3	1	3	4	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:148909483G>A	ENST00000262085.3	+	6	1091	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.R329Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	329					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCTTGTCCCGGATTAAACAG	0.498																																						uc003wfm.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(985-987)cGg>cAg		Homo sapiens zinc finger protein 282 (ZNF282), mRNA.							70	62	65					7																	148909483		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148909483G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.986G>A	7.37:g.148909483G>A	ENSP00000262085:p.Arg329Gln					ZNF282_uc011kun.1_Missense_Mutation_p.R329Q|ZNF282_uc003wfn.3_Missense_Mutation_p.R269Q|ZNF282_uc003wfo.3_Intron	p.R329Q	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	5	1091	+	Melanoma(164;0.15)		329					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.986G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212089	0.58452	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.05649	3.41;5.14	5.38	5.38	0.77491	.	0.000000	0.47455	D	0.000229	T	0.09113	0.0225	N	0.20530	0.585	0.39401	D	0.966597	D;D;D	0.76494	0.993;0.999;0.999	P;P;P	0.56751	0.644;0.805;0.805	T	0.45323	-0.9269	10	0.11485	T	0.65	-32.8616	14.655	0.68825	0.0:0.0:1.0:0.0	.	329;301;329	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	Q	329	ENSP00000262085:R329Q;ENSP00000418840:R329Q	ENSP00000262085:R329Q	R	+	2	0	ZNF282	148540416	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.521000	0.35910	2.529000	0.85273	0.655000	0.94253	CGG		0.498	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		A	148909483	G	A	148909483	3	1	105	1	0	0	0	0	1	0	0	0	17816	1116	39	2	1008	2	ZNF282	7	148909483	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	42385982	148909483	10229180	37	7211											
NCOA2	10499	broad.mit.edu	37	chr8	71057069	71057069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccagttgccctggtcGtgggttattaaaagctaagg	8	11	12	10	1	0	0	0	0	0	0	1	0	0	0	3	3	3	3	3	3	4	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:71057069G>A	ENST00000452400.2	-	13	2801	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	874					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGTCGTGGGTTATTA	0.388			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2620-2622)Cga>Tga		Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.							115	108	110					8																	71057069		1842	4082	5924	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71057069G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2620C>T	8.37:g.71057069G>A	ENSP00000399968:p.Arg874*					NCOA2_uc011lfb.1_Intron	p.R874*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		12	2782	-	Breast(64;0.201)		874					Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.2620C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	43	10.007644	0.99315	.	.	ENSG00000140396	ENST00000452400	.	.	.	5.9	5.9	0.94986	.	0.067907	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8234	0.78676	0.0:0.0:0.8636:0.1364	.	.	.	.	X	874	.	ENSP00000399968:R874X	R	-	1	2	NCOA2	71219623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.247000	0.72411	2.802000	0.96397	0.650000	0.86243	CGA		0.388	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			A	71057069	G	A	71057069	4	1	105	1	0	0	0	0	0	1	0	0	10229	1153	40	1	1818	1	NCOA2	8	71057069	Nonsense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		71057069	75306953	38	7212											
PHF20L1	51105	broad.mit.edu	37	chr8	133806658	133806658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcattttgatttttgaggtAtccatcacgaattgaaaaaa	15	14	7	5	1	1	3	1	3	0	0	2	4	2	3	1	1	1	2	1	1	5	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:133806658A>G	ENST00000395386.2	+	3	385	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	PHF20L1_ENST00000395379.1_Missense_Mutation_p.Y29C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Y29C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.Y29C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.Y29C|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	29	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTTTGAGGTATCCATCACGA	0.338																																						uc003ytt.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(85-87)tAt>tGt		Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.							74	70	71					8																	133806658		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133806658A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.86A>G	8.37:g.133806658A>G	ENSP00000378784:p.Tyr29Cys					PHF20L1_uc003ytr.3_Missense_Mutation_p.Y29C|PHF20L1_uc010mdv.3_Missense_Mutation_p.Y29C|PHF20L1_uc003yts.3_Missense_Mutation_p.Y29C|PHF20L1_uc011lja.2_Missense_Mutation_p.Y29C|PHF20L1_uc003ytu.1_Non-coding_Transcript	p.Y29C	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	411	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		29			Tudor 1.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.86A>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354697	0.82243	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.55930	0.56;0.56;0.59;1.21;0.49;0.57;0.59;1.23	5.81	5.81	0.92471	Tudor-like, plant (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.985;1.0;0.998;0.998	T	0.71424	-0.4597	10	0.87932	D	0	-3.2378	15.3482	0.74359	1.0:0.0:0.0:0.0	.	29;29;29;29;29	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	C	29	ENSP00000378781:Y29C;ENSP00000378777:Y29C;ENSP00000355301:Y29C;ENSP00000378784:Y29C;ENSP00000324519:Y29C;ENSP00000338269:Y29C;ENSP00000378775:Y29C;ENSP00000378788:Y29C	ENSP00000324519:Y29C	Y	+	2	0	PHF20L1	133875840	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.317000	0.96327	2.214000	0.71695	0.528000	0.53228	TAT		0.338	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		G	133806658	A	G	133806658	3	3	105	1	0	0	0	0	1	0	0	0	11832	449	16	4	92	4	PHF20L1	8	133806658	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	62749589	133806658	12557364	39	7213											
SECISBP2	79048	broad.mit.edu	37	chr9	91973081	91973081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatggccccccagccctGaaagaaaaagaagagccaca	17	2	10	12	0	0	5	0	1	0	4	0	6	0	5	5	1	2	0	5	1	5	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:91973081G>A	ENST00000375807.3	+	16	2507	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	SECISBP2_ENST00000339901.4_Silent_p.L739L|SECISBP2_ENST00000534113.2_Silent_p.L744L	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	812					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCCCAGCCCTGAAAGAAAAAG	0.562																																						uc004aqj.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2434-2436)ctG>ctA		Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.							45	53	50					9																	91973081		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91973081G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2436G>A	9.37:g.91973081G>A						SECISBP2_uc010mqo.1_Silent_p.L517L|SECISBP2_uc004aqk.1_Silent_p.L739L|SECISBP2_uc011ltk.1_Silent_p.L811L|SECISBP2_uc011ltl.1_Silent_p.L744L	p.L812L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			15	2516	+			812					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.2436G>A	CCDS6683.1																																																																																				0.562	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		A	91973081	G	A	91973081	2	1	105	1	0	0	0	0	0	0	0	1	14006	1277	45	3		3	SECISBP2	9	91973081	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		91973081	49240350	40	7214											
LAMC3	10319	broad.mit.edu	37	chr9	133927934	133927934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcatactgaccttcCgggtgccccccggggactcc	5	7	10	19	2	1	1	1	1	0	0	3	2	3	2	8	3	3	0	8	3	1	2	rs199764333	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:133927934C>T	ENST00000361069.4	+	10	1820	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	563	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTGACCTTCCGGGTGCCCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	5	0.000998403	0	0	5008	,	,		14696	0		0.005	False		,,,				2504	0					uc004caa.1																			0		p.F562S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1687-1689)Cgg>Tgg		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.		C	TRP/ARG	0,4406		0,0,2203	63	71	68		1687	2.4	0.1	9		68	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LAMC3	NM_006059.3	101	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	563/1576	133927934	5,13001	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133927934C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1687C>T	9.37:g.133927934C>T	ENSP00000354360:p.Arg563Trp		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.R563W	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	9	1785	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	563			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1687C>T	CCDS6938.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	8.804	0.933646	0.18206	0.0	5.81E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.37584	1.19	5.38	2.39	0.29439	Laminin B type IV (2);	0.763568	0.12679	N	0.448166	T	0.26738	0.0654	L	0.58510	1.815	0.26138	N	0.980315	B	0.23128	0.08	B	0.30782	0.12	T	0.35475	-0.9787	10	0.59425	D	0.04	.	5.3628	0.16098	0.3034:0.53:0.0:0.1666	.	563	Q9Y6N6	LAMC3_HUMAN	W	563	ENSP00000354360:R563W	ENSP00000347156:R563W	R	+	1	2	LAMC3	132917755	0.232000	0.23762	0.066000	0.19879	0.041000	0.13682	0.407000	0.21049	0.190000	0.20209	-0.264000	0.10439	CGG		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133927934	C	T	133927934	3	4	105	1	0	0	0	0	1	0	0	0	8616	643	23	2	1725	2	LAMC3	9	133927934	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	41954853	133927934	7285497	41	7215											
CDH23	64072	broad.mit.edu	37	chr10	73567464	73567464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacactgcaggaggtgcgcGttgtgctagaggacatcaac	10	8	13	10	2	2	1	2	0	0	1	2	3	2	3	0	3	4	3	0	3	2	2	rs190672679		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:73567464G>A	ENST00000224721.6	+	58	8520	c.8515G>A	c.(8515-8517)Gtt>Att	p.V2839I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V594I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2834	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGTGCGCGTTGTGCTAGA	0.632													G|||	1	0.000199681	0	0	5008	,	,		20194	0.001		0	False		,,,				2504	0					uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8491-8493)Gtt>Att		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							33	36	35					10																	73567464		2174	4261	6435	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73567464G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8515G>A	10.37:g.73567464G>A	ENSP00000224721:p.Val2839Ile					CDH23_uc001jsg.4_Missense_Mutation_p.V594I|CDH23_uc001jsh.4_Missense_Mutation_p.V594I|CDH23_uc001jsi.4_Missense_Mutation_p.V594I	p.V2831I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			56	8881	+			2834			Cadherin 26.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8491G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.54	1.670018	0.29693	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.64260	-0.09	5.6	4.59	0.56863	Cadherin (3);	0.065111	0.64402	D	0.000015	T	0.29749	0.0743	N	0.03209	-0.39	0.42059	D	0.991153	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.35176	-0.9799	10	0.02654	T	1	.	6.734	0.23399	0.205:0.0:0.795:0.0	.	2834;2834	E9PEX1;Q9H251	.;CAD23_HUMAN	I	2839;2834;2837;594	ENSP00000381768:V594I	ENSP00000224721:V2839I	V	+	1	0	CDH23	73237470	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.752000	0.62176	2.643000	0.89663	0.544000	0.68410	GTT		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73567464	G	A	73567464	3	1	105	1	0	0	0	0	1	0	0	0	3108	1145	40	1	9075	1	CDH23	10	73567464	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		73567464	61967283	42	7216											
MYOF	26509	broad.mit.edu	37	chr10	95119651	95119651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcggaccagccttcgcCgtctatgagtgtggtacatt	6	14	11	10	3	1	1	0	1	1	0	3	2	1	2	3	2	2	2	3	2	2	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:95119651C>T	ENST00000359263.4	-	29	3058	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	MYOF_ENST00000371501.4_Missense_Mutation_p.R1020Q|MYOF_ENST00000371502.4_Missense_Mutation_p.R1020Q|MYOF_ENST00000358334.5_Missense_Mutation_p.R1007Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1020					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCTTCGCCGTCTATGAGT	0.502																																						uc001kin.3																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3058-3060)cGg>cAg		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							202	191	194					10																	95119651		1939	4142	6081	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95119651C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3059G>A	10.37:g.95119651C>T	ENSP00000352208:p.Arg1020Gln					MYOF_uc001kio.3_Missense_Mutation_p.R1007Q|MYOF_uc009xue.3_Non-coding_Transcript	p.R1020Q	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			28	3182	-			1020					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3059G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	36	5.738268	0.96865	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.88896	-2.42;-2.42;-2.41;-2.44	5.36	5.36	0.76844	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94274	0.7513	10	0.48119	T	0.1	-18.553	19.2753	0.94029	0.0:1.0:0.0:0.0	.	1007;1020	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	1007;1020;1020;1020	ENSP00000351094:R1007Q;ENSP00000352208:R1020Q;ENSP00000360556:R1020Q;ENSP00000360557:R1020Q	ENSP00000351094:R1007Q	R	-	2	0	MYOF	95109641	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.651000	0.83577	2.797000	0.96272	0.561000	0.74099	CGG		0.502	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		T	95119651	C	T	95119651	3	4	105	1	0	0	0	0	1	0	0	0	10089	652	23	2	3230	2	MYOF	10	95119651	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	21552187	95119651	40415096	43	7217											
OR51V1	283111	broad.mit.edu	37	chr11	5221570	5221570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtgaggaggacagaggActccatgaaggacagaccat	15	5	13	8	0	0	4	0	2	0	2	1	8	1	8	2	4	0	0	2	4	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:5221570A>T	ENST00000321255.1	-	1	360	c.361T>A	c.(361-363)Tcc>Acc	p.S121T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	121					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACAGAGGACTCCATGAAG	0.473																																						uc010qyz.2																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(361-363)Tcc>Acc		Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.							56	56	56					11																	5221570		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221570A>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.361T>A	11.37:g.5221570A>T	ENSP00000321729:p.Ser121Thr						p.S121T	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	361	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	121						Missense_Mutation	SNP	ENST00000321255.1	37	c.361T>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.194320	0.58017	.	.	ENSG00000176742	ENST00000321255	T	0.01335	5.0	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000369	T	0.08582	0.0213	M	0.85859	2.78	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.06935	-1.0799	10	0.87932	D	0	.	9.5218	0.39140	0.8427:0.0:0.0:0.1573	.	121	Q9H2C8	O51V1_HUMAN	T	121	ENSP00000321729:S121T	ENSP00000321729:S121T	S	-	1	0	OR51V1	5178146	0.031000	0.19500	0.673000	0.29887	0.969000	0.65631	1.573000	0.36472	2.210000	0.71456	0.528000	0.53228	TCC		0.473	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		T	5221570	A	T	5221570	3	4	105	1	0	0	0	0	1	0	0	0	11107	275	10	5	607	5	OR51V1	11	5221570	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08		5221570	129784946	44	7218											
OR10A3	26496	broad.mit.edu	37	chr11	7960995	7960995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaaccccaaagagctgcaCctggagctcaggaaagttag	15	5	11	10	0	1	1	1	0	0	1	1	4	1	3	3	2	4	4	3	2	5	1	rs539222840		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:7960995C>T	ENST00000360759.3	-	1	146	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	25					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCACCTGGAGCTCA	0.413																																						uc010rbi.2																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(73-75)Gtg>Atg		Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.							74	76	75					11																	7960995		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960995C>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.73G>A	11.37:g.7960995C>T	ENSP00000353988:p.Val25Met						p.V25M	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	73	-			25					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.73G>A	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	C	2.499	-0.315653	0.05422	.	.	ENSG00000170683	ENST00000360759	T	0.00462	7.26	4.95	4.03	0.46877	.	1.398080	0.05097	U	0.486431	T	0.00440	0.0014	L	0.33624	1.015	0.09310	N	1	B	0.29270	0.24	B	0.32928	0.155	T	0.49437	-0.8940	10	0.34782	T	0.22	.	8.0444	0.30540	0.0:0.8165:0.0:0.1835	.	25	P58181	O10A3_HUMAN	M	25	ENSP00000353988:V25M	ENSP00000353988:V25M	V	-	1	0	OR10A3	7917571	0.000000	0.05858	0.849000	0.33467	0.034000	0.12701	-0.216000	0.09266	1.428000	0.47296	0.650000	0.86243	GTG		0.413	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		T	7960995	C	T	7960995	3	4	105	1	0	0	0	0	1	0	0	0	10891	507	18	3	874	3	OR10A3	11	7960995	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	2739425	7960995	127045521	45	7219											
INSC	387755	broad.mit.edu	37	chr11	15198673	15198673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagattgagaagctgctaaTggagaaatgctcggagctct	13	9	12	7	1	1	3	0	1	1	3	2	6	1	4	0	2	4	4	0	2	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:15198673T>C	ENST00000379554.3	+	4	606	c.560T>C	c.(559-561)aTg>aCg	p.M187T	INSC_ENST00000424273.1_Missense_Mutation_p.M140T|INSC_ENST00000525218.1_Missense_Mutation_p.M140T|INSC_ENST00000528567.1_Missense_Mutation_p.M140T|INSC_ENST00000530161.1_Missense_Mutation_p.M140T|INSC_ENST00000379556.3_Missense_Mutation_p.M140T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	187					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAGCTGCTAATGGAGAAATGC	0.493																																						uc001mlz.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(418-420)aTg>aCg		Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.							108	110	109					11																	15198673		1850	4098	5948	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15198673T>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.560T>C	11.37:g.15198673T>C	ENSP00000368872:p.Met187Thr					INSC_uc001mly.3_Missense_Mutation_p.M187T|INSC_uc001mma.3_Missense_Mutation_p.M140T|INSC_uc010rcs.2_Missense_Mutation_p.M140T|INSC_uc001mmb.3_Missense_Mutation_p.M140T|INSC_uc001mmc.3_Missense_Mutation_p.M140T	p.M140T	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN			3	530	+			187					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.419T>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974212	0.53720	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.34275	1.43;1.46;1.37;1.43;1.46;1.37	5.58	5.58	0.84498	.	0.090248	0.85682	D	0.000000	T	0.36248	0.0960	L	0.47716	1.5	0.45930	D	0.998764	P;P;P;P	0.47762	0.9;0.557;0.763;0.763	B;B;B;B	0.42522	0.39;0.167;0.229;0.229	T	0.27331	-1.0077	10	0.72032	D	0.01	-28.0707	14.5825	0.68302	0.0:0.0:0.0:1.0	.	140;140;140;187	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	T	187;140;140;140;140;140;140	ENSP00000368872:M187T;ENSP00000368874:M140T;ENSP00000389161:M140T;ENSP00000435022:M140T;ENSP00000436194:M140T;ENSP00000436113:M140T	ENSP00000368872:M187T	M	+	2	0	INSC	15155249	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.597000	0.74118	2.124000	0.65301	0.460000	0.39030	ATG		0.493	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		C	15198673	T	C	15198673	3	2	105	1	0	0	0	0	1	0	0	0	7764	1464	51	4	574	4	INSC	11	15198673	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	7237678	15198673	119807843	46	7220											
OR1S1	219959	broad.mit.edu	37	chr11	57982888	57982888	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagttatcatcttccccttTacactcagcttcttttccta	7	18	2	14	0	5	0	3	0	2	0	7	0	7	0	3	0	2	2	3	0	3	8			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:57982888T>C	ENST00000309433.6	+	1	672	c.672T>C	c.(670-672)ttT>ttC	p.F224F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTTCCCCTTTACACTCAGCT	0.453																																						uc010rkc.2																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(670-672)ttT>ttC		Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.							160	126	138					11																	57982888		2201	4295	6496	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982888T>C	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.672T>C	11.37:g.57982888T>C							p.F224F	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			0	672	+		Breast(21;0.0589)	224					Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.672T>C	CCDS31546.1																																																																																				0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		C	57982888	T	C	57982888	2	2	105	1	0	0	0	0	0	0	0	1	10972	1751	61	4		4	OR1S1	11	57982888	Silent	SNP	T	TCGA-06-6697-01A-11D-1845-08	42784215	57982888	77023628	47	7221											
MMP27	64066	broad.mit.edu	37	chr11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaaatgcttgcatttcccGaattttgtcatctatgagac	13	14	6	8	1	2	1	1	1	1	1	3	3	3	1	1	0	2	2	1	0	5	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:102575419G>A	ENST00000260229.4	-	2	281	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	64					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R64W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TGCATTTCCCGAATTTTGTCA	0.428																																						uc001phd.1																			1	Substitution - Missense(1)	p.R64W(2)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(190-192)Cgg>Tgg		Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.							91	87	89					11																	102575419		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102575419G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.190C>T	11.37:g.102575419G>A	ENSP00000260229:p.Arg64Trp						p.R64W	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	1	213	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	64					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.190C>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708846	0.48517	.	.	ENSG00000137675	ENST00000260229	T	0.42513	0.97	5.55	5.55	0.83447	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.378222	0.22952	N	0.053647	T	0.68522	0.3010	M	0.89904	3.07	0.36003	D	0.837522	D	0.76494	0.999	P	0.62089	0.898	T	0.79293	-0.1863	10	0.87932	D	0	.	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	64	Q9H306	MMP27_HUMAN	W	64	ENSP00000260229:R64W	ENSP00000260229:R64W	R	-	1	2	MMP27	102080629	0.048000	0.20356	0.993000	0.49108	0.386000	0.30323	2.100000	0.41777	2.894000	0.99253	0.591000	0.81541	CGG		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102575419	G	A	102575419	3	1	105	1	0	0	0	0	1	0	0	0	9664	1057	37	2	1387	2	MMP27	11	102575419	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	44592531	102575419	32431097	48	7222											
KDELC2	143888	broad.mit.edu	37	chr11	108345675	108345675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggactggcgctcggcaTatttctgaaacgtgggttta	7	13	13	8	3	1	1	0	1	1	0	2	2	1	2	0	4	2	4	0	4	3	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:108345675T>A	ENST00000323468.5	-	8	1468	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	KDELC2_ENST00000434945.2_Missense_Mutation_p.Y412F|KDELC2_ENST00000532730.1_5'UTR	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	468						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GCGCTCGGCATATTTCTGAAA	0.507																																						uc001pkj.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(1402-1404)tAt>tTt		Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.							161	159	160					11																	108345675		1976	4158	6134	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108345675T>A	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1403A>T	11.37:g.108345675T>A	ENSP00000315386:p.Tyr468Phe					KDELC2_uc001pki.2_Missense_Mutation_p.Y412F	p.Y468F	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	7	1469	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	468					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.1403A>T	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155341	0.78114	.	.	ENSG00000178202	ENST00000323468;ENST00000434945	T;T	0.54071	0.59;0.59	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.72576	2.205	0.80722	D	1	P;D	0.52996	0.91;0.957	P;P	0.53912	0.737;0.723	T	0.68372	-0.5426	10	0.52906	T	0.07	-28.9529	15.0311	0.71708	0.0:0.0:0.0:1.0	.	468;412	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	F	468;412	ENSP00000315386:Y468F;ENSP00000413429:Y412F	ENSP00000315386:Y468F	Y	-	2	0	KDELC2	107850885	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.009000	0.76347	2.186000	0.69663	0.533000	0.62120	TAT		0.507	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		A	108345675	T	A	108345675	3	1	105	1	0	0	0	0	1	0	0	0	8118	1406	49	5	124	5	KDELC2	11	108345675	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	5770256	108345675	26660841	49	7223											
CLEC7A	64581	broad.mit.edu	37	chr12	10277922	10277922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgagctgtctatctttaGgagattagagcccagttgcc	9	14	10	8	0	2	3	0	1	2	2	2	4	2	3	2	1	3	2	2	1	3	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10277922G>C	ENST00000304084.8	-	4	620	c.466C>G	c.(466-468)Cta>Gta	p.L156V	CLEC7A_ENST00000298523.5_Missense_Mutation_p.L110V|CLEC7A_ENST00000533022.1_Missense_Mutation_p.L156V|CLEC7A_ENST00000353231.5_Missense_Mutation_p.L110V|CLEC7A_ENST00000396484.2_Missense_Mutation_p.L77V	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	156	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCTATCTTTAGGAGATTAGAG	0.383																																						uc001qxg.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(466-468)Cta>Gta		Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.							114	111	112					12																	10277922		2203	4300	6503	SO:0001583	missense	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10277922G>C	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.466C>G	12.37:g.10277922G>C	ENSP00000302569:p.Leu156Val					CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxh.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxi.2_Missense_Mutation_p.L156V|CLEC7A_uc001qxj.2_Missense_Mutation_p.L77V|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.L110V|CLEC7A_uc021qva.1_Missense_Mutation_p.L110V	p.L156V	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN			3	653	-			156			C-type lectin.		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	c.466C>G	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115351	0.08831	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	4.68	1.82	0.25136	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.197467	0.25324	N	0.031495	T	0.19604	0.0471	L	0.49778	1.585	0.58432	D	0.999999	P;P;P;P;B;B;B	0.40970	0.734;0.52;0.628;0.52;0.139;0.167;0.221	P;B;B;B;B;B;B	0.47044	0.535;0.275;0.257;0.275;0.134;0.13;0.08	T	0.01791	-1.1273	10	0.51188	T	0.08	.	5.9329	0.19148	0.0807:0.1331:0.6474:0.1389	.	110;156;77;156;110;156;110	Q9BXN2-6;Q9BXN2-4;Q9BXN2-5;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;CLC7A_HUMAN;.	V	110;110;77;156;156	ENSP00000266456:L110V;ENSP00000298523:L110V;ENSP00000379743:L77V;ENSP00000302569:L156V;ENSP00000431461:L156V	ENSP00000298523:L110V	L	-	1	2	CLEC7A	10169189	0.913000	0.31002	0.740000	0.30986	0.042000	0.13812	0.793000	0.26944	0.142000	0.18901	-0.824000	0.03097	CTA		0.383	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		C	10277922	G	C	10277922	3	2	105	1	0	0	0	0	1	0	0	0	3521	991	35	5	289	5	CLEC7A	12	10277922	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		10277922	123573973	50	7224											
KLRC2	3823	broad.mit.edu	37	chr12	10587963	10587963	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaggacaatgcaaatGattcctaggacctcggcagt	12	8	10	11	1	1	1	1	1	0	0	3	3	2	3	3	3	1	2	3	3	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10587963G>T	ENST00000539033.1	-	2	248	c.234C>A	c.(232-234)atC>atA	p.I78I	KLRC2_ENST00000536833.2_Silent_p.I19I|KLRC2_ENST00000381902.2_Silent_p.I78I|KLRC2_ENST00000381901.1_Silent_p.I78I																							CAATGCAAATGATTCCTAGGA	0.428																																						uc001qyh.3																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(232-234)atC>atA		Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.							169	190	183					12																	10587963		2202	4298	6500	SO:0001819	synonymous_variant	3823				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10587963G>T																												ENST00000539033.1:c.234C>A	12.37:g.10587963G>T						KLRC2_uc010she.1_Silent_p.I78I|KLRC2_uc001qyk.2_Silent_p.I78I	p.I78I	NM_002261	NP_002252	P26717	NKG2C_HUMAN			1	241	-			78						Silent	SNP	ENST00000539033.1	37	c.234C>A																																																																																					0.428	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			T	10587963	G	T	10587963	2	4	105	1	0	0	0	0	0	0	0	1	8416	1280	45	5		5	KLRC2	12	10587963	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	310041	10587963	123263932	51	7225											
METTL1	1594	broad.mit.edu	37	chr12	58162873	58162873	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattcttccctccattaCgtagaactttcttcccctcc	8	14	4	15	1	2	1	0	0	2	1	6	2	6	2	5	1	2	1	5	1	4	6	rs140194153	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:58162873C>T	ENST00000228606.4	-	0	0				CYP27B1_ENST00000546496.1_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000257848.7_3'UTR|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.R246H	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCCTCCATTACGTAGAACTTT	0.532																																						uc010ssd.2																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(736-738)cGt>cAt		Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.		C	HIS/ARG,	0,4406		0,0,2203	95	91	92		737,	6	1	12	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense,utr-3	METTL1	NM_005371.5,NM_023033.3	29,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,	246/277,	58162873	2,13004	2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58162873C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58162873C>T	Exception_encountered					CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR	p.R246H	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		5	785	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		246					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.737G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206809	0.95033	0.0	2.33E-4	ENSG00000037897	ENST00000324871	T	0.46063	0.88	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83852	0.0263	10	0.87932	D	0	-18.5649	19.2203	0.93793	0.0:1.0:0.0:0.0	.	246	Q9UBP6	TRMB_HUMAN	H	246	ENSP00000314441:R246H	ENSP00000314441:R246H	R	-	2	0	METTL1	56449140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.189000	0.72051	2.843000	0.97960	0.655000	0.94253	CGT		0.532	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		T	58162873	C	T	58162873	1	4	105	0	1	0	0	0	0	0	0	0	9493	536	19	1		1	METTL1	12	58162873	5'Flank	SNP	C	TCGA-06-6697-01A-11D-1845-08	47574910	58162873	75689022	52	7226											
LRRIQ1	84125	broad.mit.edu	37	chr12	85459186	85459186	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacttaagtacattgaTgcacaggtatgctctctgcc	14	11	7	9	0	1	1	0	1	1	0	2	1	1	1	1	1	5	4	1	1	6	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:85459186T>C	ENST00000393217.2	+	9	2599	c.2538T>C	c.(2536-2538)gaT>gaC	p.D846D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	846										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTACATTGATGCACAGGTAT	0.333																																						uc001tac.3																			0		p.D846N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2536-2538)gaT>gaC		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							108	102	104					12																	85459186		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85459186T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2538T>C	12.37:g.85459186T>C						LRRIQ1_uc021rbo.1_Silent_p.D724D	p.D846D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2649	+			846					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2538T>C	CCDS41816.1																																																																																				0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85459186	T	C	85459186	2	2	105	1	0	0	0	0	0	0	0	1	9029	1461	51	4		4	LRRIQ1	12	85459186	Silent	SNP	T	TCGA-06-6697-01A-11D-1845-08	27296313	85459186	48392709	53	7227											
KIAA1033	23325	broad.mit.edu	37	chr12	105519878	105519878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcacatagtattcggtcaAtttttgcaaatgtagaagcc	12	14	8	7	1	1	1	1	0	0	1	2	1	1	1	1	1	3	4	1	1	6	7	rs372217243		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:105519878A>G	ENST00000332180.5	+	11	970	c.883A>G	c.(883-885)Att>Gtt	p.I295V		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTCGGTCAATTTTTGCAAA	0.308																																						uc010swr.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(883-885)Att>Gtt		Homo sapiens KIAA1033 (KIAA1033), mRNA.		A	VAL/ILE	1,3631		0,1,1815	109	98	101		883	4.4	1	12		101	0,8154		0,0,4077	no	missense	KIAA1033	NM_015275.1	29	0,1,5892	GG,GA,AA		0.0,0.0275,0.0085	benign	295/1174	105519878	1,11785	1816	4077	5893	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105519878A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.883A>G	12.37:g.105519878A>G	ENSP00000328062:p.Ile295Val					KIAA1033_uc001tld.3_Missense_Mutation_p.I295V|KIAA1033_uc010sws.2_Missense_Mutation_p.I107V	p.I295V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			10	970	+			295						Missense_Mutation	SNP	ENST00000332180.5	37	c.883A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319846	0.23994	2.75E-4	0.0	ENSG00000136051	ENST00000332180	T	0.30714	1.52	5.56	4.42	0.53409	.	0.187636	0.53938	N	0.000046	T	0.29716	0.0742	M	0.69823	2.125	0.47659	D	0.999484	B;B	0.12630	0.006;0.006	B;B	0.13407	0.009;0.009	T	0.07947	-1.0746	10	0.15952	T	0.53	.	9.1279	0.36828	0.8406:0.0:0.1594:0.0	.	295;295	B7ZKT9;Q2M389	.;WASH7_HUMAN	V	295	ENSP00000328062:I295V	ENSP00000328062:I295V	I	+	1	0	KIAA1033	104044008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.555000	0.60767	0.942000	0.37525	-0.385000	0.06624	ATT		0.308	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		G	105519878	A	G	105519878	3	3	105	1	0	0	0	0	1	0	0	0	8206	101	4	4	925	4	KIAA1033	12	105519878	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	20060692	105519878	28332017	54	7228											
DYNC1H1	1778	broad.mit.edu	37	chr14	102514280	102514280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgccctgcctggatgcGgacactgcacaccaccgcgt	6	5	13	17	5	0	0	0	0	0	0	0	2	0	2	4	3	3	1	4	3	0	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr14:102514280G>A	ENST00000360184.4	+	73	13297	c.13133G>A	c.(13132-13134)cGg>cAg	p.R4378Q	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4378					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTGGATGCGGACACTGCAC	0.612																																						uc001yks.2																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13132-13134)cGg>cAg		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							125	78	94					14																	102514280		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102514280G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13133G>A	14.37:g.102514280G>A	ENSP00000348965:p.Arg4378Gln						p.R4378Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			72	13297	+			4378					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13133G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252674	0.80135	.	.	ENSG00000197102	ENST00000360184	T	0.08546	3.08	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.61036	1.89	0.58432	D	0.999999	D	0.58268	0.982	P	0.51016	0.656	T	0.00405	-1.1760	10	0.39692	T	0.17	.	19.1067	0.93299	0.0:0.0:1.0:0.0	.	4378	Q14204	DYHC1_HUMAN	Q	4378	ENSP00000348965:R4378Q	ENSP00000348965:R4378Q	R	+	2	0	DYNC1H1	101584033	1.000000	0.71417	0.514000	0.27761	0.929000	0.56500	7.959000	0.87885	2.509000	0.84616	0.655000	0.94253	CGG		0.612	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102514280	G	A	102514280	3	1	105	1	0	0	0	0	1	0	0	0	4841	1116	39	2	13423	2	DYNC1H1	14	102514280	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		102514280	4835260	55	7229											
NRG4	145957	broad.mit.edu	37	chr15	76301577	76301577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagtaggtatcacataaCaaagccccccattcaggcaa	16	7	7	11	0	2	0	2	0	0	0	2	1	2	0	3	2	2	3	3	2	7	5	rs201119503		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr15:76301577C>A	ENST00000394907.3	-	3	249	c.68G>T	c.(67-69)tGt>tTt	p.C23F	NRG4_ENST00000535975.1_Missense_Mutation_p.C23F|NRG4_ENST00000305435.10_Missense_Mutation_p.C23F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	23	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TATCACATAACAAAGCCCCCC	0.388													C|||	1	0.000199681	0	0	5008	,	,		15893	0		0.001	False		,,,				2504	0					uc002bbo.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(67-69)tGt>tTt		Homo sapiens neuregulin 4 (NRG4), mRNA.							91	94	93					15																	76301577		2197	4294	6491	SO:0001583	missense	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76301577C>A	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.68G>T	15.37:g.76301577C>A	ENSP00000378367:p.Cys23Phe					NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	p.C23F	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN			2	250	-			23			EGF-like.		A6NIE8	Missense_Mutation	SNP	ENST00000394907.3	37	c.68G>T	CCDS10288.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.4	3.985260	0.74474	.	.	ENSG00000169752	ENST00000394907;ENST00000535975;ENST00000305435	D;D	0.88046	-2.33;-2.33	5.37	5.37	0.77165	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.799345	0.09908	U	0.740151	D	0.96153	0.8746	H	0.96239	3.79	0.51233	D	0.999918	D	0.76494	0.999	D	0.83275	0.996	D	0.95026	0.8165	10	0.87932	D	0	-10.782	16.6153	0.84909	0.0:1.0:0.0:0.0	.	23	Q8WWG1	NRG4_HUMAN	F	23	ENSP00000378367:C23F;ENSP00000441129:C23F	ENSP00000303071:C23F	C	-	2	0	NRG4	74088632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	2.494000	0.84150	0.650000	0.86243	TGT		0.388	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1	NM_138573		A	76301577	C	A	76301577	3	1	105	1	0	0	0	0	1	0	0	0	10650	478	17	5	295	5	NRG4	15	76301577	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		76301577	26229815	56	7230											
SRRM2	23524	broad.mit.edu	37	chr16	2812703	2812703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaagaagaggcagatctgGctcatcttcagagcggaaaa	15	7	11	8	1	5	4	3	0	2	4	5	5	5	5	0	3	1	2	0	3	4	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:2812703G>A	ENST00000301740.8	+	11	2723	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	725	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCAGATCTGGCTCATCTTCA	0.463																																						uc002crk.3																			0		p.S724fs*27(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2173-2175)gGc>gAc		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							74	78	77					16																	2812703		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812703G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2174G>A	16.37:g.2812703G>A	ENSP00000301740:p.Gly725Asp					SRRM2_uc002crj.1_Missense_Mutation_p.G629D|SRRM2_uc002crl.1_Missense_Mutation_p.G725D|SRRM2_uc010bsu.1_Missense_Mutation_p.G629D	p.G725D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	2723	+			725			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2174G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	7.734	0.699884	0.15106	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.24151	1.87	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000014	T	0.36193	0.0958	N	0.14661	0.345	0.38931	D	0.95794	D	0.89917	1.0	D	0.87578	0.998	T	0.39761	-0.9598	10	0.72032	D	0.01	-11.9364	17.2499	0.87039	0.0:0.0:1.0:0.0	.	725	Q9UQ35	SRRM2_HUMAN	D	725;725;690	ENSP00000301740:G725D	ENSP00000301740:G725D	G	+	2	0	SRRM2	2752704	0.991000	0.36638	1.000000	0.80357	0.886000	0.51366	1.675000	0.37555	2.677000	0.91161	0.462000	0.41574	GGC		0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2812703	G	A	2812703	3	1	105	1	0	0	0	0	1	0	0	0	15168	1203	42	3	2212	3	SRRM2	16	2812703	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		2812703	87542050	57	7231											
CHD9	80205	broad.mit.edu	37	chr16	53276816	53276816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttttgaaatgattcttgGaggctgtggagagcttaatg	10	14	12	5	0	1	3	0	2	1	1	1	5	1	4	0	3	1	2	0	3	2	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:53276816G>T	ENST00000398510.3	+	12	3029	c.2942G>T	c.(2941-2943)gGa>gTa	p.G981V	CHD9_ENST00000447540.1_Missense_Mutation_p.G981V|CHD9_ENST00000564845.1_Missense_Mutation_p.G981V|CHD9_ENST00000566029.1_Missense_Mutation_p.G981V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	981	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATTCTTGGAGGCTGTGGA	0.363																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2941-2943)gGa>gTa		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							162	158	159					16																	53276816		1875	4116	5991	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53276816G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2942G>T	16.37:g.53276816G>T	ENSP00000381522:p.Gly981Val					CHD9_uc002egy.3_Missense_Mutation_p.G981V|CHD9_uc002ehc.3_Missense_Mutation_p.G981V|CHD9_uc002ehf.3_Missense_Mutation_p.G95V|CHD9_uc002ehg.2_Missense_Mutation_p.G95V|CHD9_uc002ehd.2_Missense_Mutation_p.G507V|CHD9_uc002ehe.1_Missense_Mutation_p.G95V	p.G981V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			11	3106	+		all_cancers(37;0.0212)	981			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2942G>T		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146968	0.57151	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.92805	-3.11;-3.11	5.3	5.3	0.74995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000041	D	0.91958	0.7453	N	0.10837	0.055	0.80722	D	1	B;P;D;D	0.76494	0.221;0.841;0.999;0.999	B;P;D;D	0.72982	0.309;0.62;0.979;0.964	D	0.93826	0.7123	10	0.66056	D	0.02	-17.0995	19.336	0.94319	0.0:0.0:1.0:0.0	.	507;981;981;981	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	981;981;507	ENSP00000396345:G981V;ENSP00000381522:G981V	ENSP00000219084:G507V	G	+	2	0	CHD9	51834317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.450000	0.80656	2.643000	0.89663	0.655000	0.94253	GGA		0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		T	53276816	G	T	53276816	3	4	105	1	0	0	0	0	1	0	0	0	3332	1174	41	5	2988	5	CHD9	16	53276816	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	50464113	53276816	37077937	58	7232											
CDYL2	124359	broad.mit.edu	37	chr16	80718602	80718602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcccgttctgagactttTtcaggggcattatttgcaaa	9	14	8	10	1	2	1	1	1	1	1	3	2	3	1	2	2	1	3	2	2	2	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:80718602T>C	ENST00000570137.2	-	2	604	c.449A>G	c.(448-450)aAa>aGa	p.K150R	CDYL2_ENST00000566173.1_Missense_Mutation_p.K150R|CDYL2_ENST00000562812.1_Missense_Mutation_p.K150R|CDYL2_ENST00000563890.1_Missense_Mutation_p.K150R|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	150						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTGAGACTTTTTCAGGGGCAT	0.512																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(448-450)aAa>aGa		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.							94	100	98					16																	80718602		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718602T>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.449A>G	16.37:g.80718602T>C	ENSP00000476295:p.Lys150Arg						p.K150R	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			1	554	-			150					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.449A>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138310	0.37728	.	.	ENSG00000166446	ENST00000299564	T	0.56275	0.47	5.14	5.14	0.70334	.	0.176524	0.47455	D	0.000232	T	0.38957	0.1060	N	0.14661	0.345	0.37715	D	0.9247	P	0.43352	0.804	B	0.41860	0.368	T	0.48139	-0.9061	10	0.42905	T	0.14	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	150	Q8N8U2	CDYL2_HUMAN	R	150	ENSP00000299564:K150R	ENSP00000299564:K150R	K	-	2	0	CDYL2	79276103	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	2.634000	0.46528	2.154000	0.67381	0.482000	0.46254	AAA		0.512	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		C	80718602	T	C	80718602	3	2	105	1	0	0	0	0	1	0	0	0	3186	1841	64	4	1095	4	CDYL2	16	80718602	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	27441786	80718602	9636151	59	7233											
MAP2K3	5606	broad.mit.edu	37	chr17	21205510	21205510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccttggacaagttctaccGgaaggtgctggataaaaaca	14	9	10	8	1	1	0	0	0	1	0	2	3	2	3	2	4	3	2	2	4	6	4	rs148304866		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:21205510G>A	ENST00000342679.4	+	6	704	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R123Q|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R123Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGTTCTACCGGAAGGTGCTG	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		15707	0		0	False		,,,				2504	0					uc002gys.3																			0											c.(454-456)cGg>cAg		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	131	105	114		368,455	4.1	1	17	dbSNP_134	114	0,8600		0,0,4300	no	missense,missense	MAP2K3	NM_002756.4,NM_145109.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	123/319,152/348	21205510	1,13005	2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21205510G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.455G>A	17.37:g.21205510G>A	ENSP00000345083:p.Arg152Gln					MAP2K3_uc002gyt.3_Missense_Mutation_p.R123Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R123Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R123Q	p.R152Q	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	720	+			152			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.455G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078363	0.55753	2.27E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.64618	-0.11;-0.11	5.17	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171626	0.34435	N	0.003962	T	0.42832	0.1220	N	0.25380	0.74	0.45035	D	0.998051	B	0.13594	0.008	B	0.09377	0.004	T	0.47886	-0.9082	10	0.62326	D	0.03	-30.5029	3.3205	0.07048	0.386:0.0:0.614:0.0	.	152	P46734	MP2K3_HUMAN	Q	152;123;123;156	ENSP00000345083:R152Q;ENSP00000355081:R123Q	ENSP00000319139:R156Q	R	+	2	0	MAP2K3	21146103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.569000	0.82380	2.396000	0.81511	0.655000	0.94253	CGG		0.592	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		A	21205510	G	A	21205510	3	1	105	1	0	0	0	0	1	0	0	0	9238	1116	39	2	477	2	MAP2K3	17	21205510	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		21205510	59989700	60	7234											
NOS2	4843	broad.mit.edu	37	chr17	26094858	26094858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacatcaaacgtctcacaGgctgcctggaagaaggtgga	12	6	13	10	2	2	1	2	0	1	1	3	4	2	4	1	5	2	1	1	5	3	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:26094858G>A	ENST00000313735.6	-	18	2273	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	680					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ACGTCTCACAGGCTGCCTGGA	0.572																																						uc002gzu.3																			0		p.A679S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2038-2040)gcC>gcT		Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						61	55	57					17																	26094858		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26094858G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2040C>T	17.37:g.26094858G>A						NOS2_uc010wab.1_Silent_p.A645A	p.A680A	NM_000625	NP_000616	P35228	NOS2_HUMAN			17	2304	-			680					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.2040C>T	CCDS11223.1																																																																																				0.572	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26094858	G	A	26094858	2	1	105	1	0	0	0	0	0	0	0	1	10543	987	35	3		3	NOS2	17	26094858	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	4889348	26094858	55100352	61	7235											
EVI2B	2124	broad.mit.edu	37	chr17	29632208	29632208	+	Missense_Mutation	SNP	C	C	A																															gtaaaagtatagacaaatgaCtttggtggttgtgtggtaga																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632208C>A	ENST00000330927.4	-	2	574	c.420G>T	c.(418-420)aaG>aaT	p.K140N	EVI2B_ENST00000544462.1_Missense_Mutation_p.K155N|EVI2B_ENST00000577894.1_Missense_Mutation_p.K140N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	140						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AGACAAATGACTTTGGTGGTT	0.438																																						uc010csq.2																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(463-465)aaG>aaT		Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.							419	348	372					17																	29632208		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632208C>A		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.420G>T	17.37:g.29632208C>A	ENSP00000333779:p.Lys140Asn					NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140N|EVI2B_uc021tuk.1_Missense_Mutation_p.K140N	p.K155N	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	648	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	140					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.465G>T	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	2.194	-0.384486	0.04966	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.50001	0.76;0.76	3.48	1.23	0.21249	.	.	.	.	.	T	0.29684	0.0741	N	0.19112	0.55	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.11329	0.006;0.006	T	0.18840	-1.0324	9	0.41790	T	0.15	0.3875	6.9128	0.24344	0.0:0.1336:0.0:0.8664	.	155;140	B7Z4A7;P34910	.;EVI2B_HUMAN	N	140;155	ENSP00000333779:K140N;ENSP00000439738:K155N	ENSP00000333779:K140N	K	-	3	2	EVI2B	26656334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.188000	0.17018	0.027000	0.15297	-1.191000	0.01696	AAG		0.438	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		A	29632208	C	A	29632208	3	1	105	1	0	0	0	0	1	0	0	0	5288	564	20	5	930	5	EVI2B	17	29632208	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	3537350	29632208	51563002	62	7236	9	2									
EVI2B	2124	broad.mit.edu	37	chr17	29632210	29632210	+	Missense_Mutation	SNP	T	T	G																															aaaagtatagacaaatgactTtggtggttgtgtggtagaag																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632210T>G	ENST00000330927.4	-	2	572	c.418A>C	c.(418-420)Aag>Cag	p.K140Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.K155Q|EVI2B_ENST00000577894.1_Missense_Mutation_p.K140Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	140						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ACAAATGACTTTGGTGGTTGT	0.438																																						uc010csq.2																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(463-465)Aag>Cag		Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.							416	345	369					17																	29632210		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632210T>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.418A>C	17.37:g.29632210T>G	ENSP00000333779:p.Lys140Gln					NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140Q|EVI2B_uc021tuk.1_Missense_Mutation_p.K140Q	p.K155Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	646	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	140					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.463A>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	T	6.511	0.462575	0.12342	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.47528	0.84;0.84	4.88	-7.61	0.01299	.	.	.	.	.	T	0.25865	0.0630	N	0.19112	0.55	0.09310	N	1	B;B	0.22683	0.073;0.073	B;B	0.15052	0.012;0.012	T	0.22277	-1.0221	9	0.36615	T	0.2	0.3875	9.1362	0.36875	0.0:0.4513:0.279:0.2697	.	155;140	B7Z4A7;P34910	.;EVI2B_HUMAN	Q	140;155	ENSP00000333779:K140Q;ENSP00000439738:K155Q	ENSP00000333779:K140Q	K	-	1	0	EVI2B	26656336	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.214000	0.09292	-1.065000	0.03168	-0.375000	0.07067	AAG		0.438	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		G	29632210	T	G	29632210	3	3	105	1	0	0	0	0	1	0	0	0	5288	1850	64	5	932	5	EVI2B	17	29632210	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	2	29632210	51563000	63	7237	9	2									
PEX12	5193	broad.mit.edu	37	chr17	33904178	33904178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagtggtgagtgatgctGagcttttcctaggatgtatc	8	13	13	7	0	0	3	0	3	0	0	2	4	1	4	1	2	3	4	1	2	2	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:33904178G>A	ENST00000225873.4	-	2	1166	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	187					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTGATGCTGAGCTTTTCCT	0.493																																						uc002hjp.3																			0		p.Q187Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(559-561)Cag>Tag		Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.							101	94	96					17																	33904178		2203	4300	6503	SO:0001587	stop_gained	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904178G>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.559C>T	17.37:g.33904178G>A	ENSP00000225873:p.Gln187*						p.Q187*	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	1175	-			187					B2R6M2	Nonsense_Mutation	SNP	ENST00000225873.4	37	c.559C>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235656	0.98719	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	.	.	.	5.63	2.3	0.28687	.	0.295004	0.37483	N	0.002072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.274	12.2751	0.54730	0.0:0.4664:0.4174:0.1162	.	.	.	.	X	187	.	ENSP00000225873:Q187X	Q	-	1	0	PEX12	30928291	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.099000	0.31013	0.697000	0.31718	0.650000	0.86243	CAG		0.493	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		A	33904178	G	A	33904178	4	1	105	1	0	0	0	0	0	1	0	0	11740	1299	45	3	528	3	PEX12	17	33904178	Nonsense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	4271968	33904178	47291032	64	7238											
TEX14	56155	broad.mit.edu	37	chr17	56699012	56699012	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcaaggcagtactcaccCctgcacgaggcccccacacc	9	5	8	19	1	2	0	2	0	0	0	2	1	2	0	5	2	3	4	5	2	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:56699012C>A	ENST00000240361.8	-	5	638	c.553G>T	c.(553-555)Gga>Tga	p.G185*	TEX14_ENST00000389934.3_Splice_Site_p.G185*|TEX14_ENST00000349033.5_Splice_Site_p.G185*			Q8IWB6	TEX14_HUMAN	testis expressed 14	185					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTCACCCCTGCACGAGG	0.612																																						uc010dcz.2																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.e5+1		Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.							56	51	53					17																	56699012		2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56699012C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.554+1G>T	17.37:g.56699012C>A						TEX14_uc002iwr.2_Splice_Site_p.G185_splice|TEX14_uc002iws.2_Splice_Site_p.G185_splice|TEX14_uc010dda.2_Splice_Site	p.G185_splice	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN			5	672	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		185					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.554_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599439	0.66332	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.42	4.46	0.54185	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.8765	11.751	0.51849	0.0:0.917:0.0:0.083	.	.	.	.	X	185	.	ENSP00000240361:G185X	G	-	1	0	TEX14	54054011	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	2.877000	0.48506	1.426000	0.47256	-0.244000	0.11960	GGA		0.612	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Nonsense_Mutation	A	56699012	C	A	56699012	5	1	105	1	0	0	0	0	0	0	1	0	15775	637	22	5	4038	5	TEX14	17	56699012	Splice_Site	SNP	C	TCGA-06-6697-01A-11D-1845-08	22794834	56699012	24496198	65	7239											
TIMM44	10469	broad.mit.edu	37	chr19	7998999	7998999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggctctgaaggccgctGtcctgcccagcttctccccg	5	8	12	16	2	2	2	0	1	2	1	4	2	3	2	5	2	2	3	5	2	1	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:7998999G>T	ENST00000270538.3	-	5	786	c.518C>A	c.(517-519)aCa>aAa	p.T173K	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	173					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GAAGGCCGCTGTCCTGCCCAG	0.677																																						uc002miz.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(517-519)aCa>aAa		Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.							76	83	81					19																	7998999		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7998999G>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.518C>A	19.37:g.7998999G>T	ENSP00000270538:p.Thr173Lys					TIMM44_uc010dvx.2_Non-coding_Transcript	p.T173K	NM_006351	NP_006342	O43615	TIM44_HUMAN			4	690	-			173					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.518C>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369588	0.42003	.	.	ENSG00000104980	ENST00000270538	D	0.85773	-2.03	5.38	3.21	0.36854	.	0.088762	0.85682	D	0.000000	D	0.90003	0.6879	M	0.83223	2.63	0.80722	D	1	D	0.62365	0.991	P	0.59115	0.852	D	0.89347	0.3658	10	0.87932	D	0	-21.702	9.1992	0.37246	0.0815:0.1464:0.7721:0.0	.	173	O43615	TIM44_HUMAN	K	173	ENSP00000270538:T173K	ENSP00000270538:T173K	T	-	2	0	TIMM44	7904999	1.000000	0.71417	0.006000	0.13384	0.023000	0.10783	5.024000	0.64090	0.626000	0.30322	-0.224000	0.12420	ACA		0.677	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			T	7998999	G	T	7998999	3	4	105	1	0	0	0	0	1	0	0	0	15909	1377	48	5	876	5	TIMM44	19	7998999	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		7998999	51129984	66	7240											
SLC44A2	57153	broad.mit.edu	37	chr19	10748353	10748353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttgccaagtgcctcatgaCctgtctcaaatgctgcttct	7	14	8	12	0	3	1	2	1	2	0	4	1	3	1	3	0	4	3	3	0	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:10748353C>T	ENST00000335757.5	+	17	2001	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	SLC44A2_ENST00000407327.4_Missense_Mutation_p.T540I|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000586078.1_Missense_Mutation_p.T542I			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	542					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGCCTCATGACCTGTCTCAAA	0.527																																						uc002mpf.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1624-1626)aCc>aTc		Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	Choline(DB00122)						177	146	156					19																	10748353		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10748353C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1625C>T	19.37:g.10748353C>T	ENSP00000336888:p.Thr542Ile					SLC44A2_uc002mpe.4_Missense_Mutation_p.T540I|SLC44A2_uc002mpg.1_Missense_Mutation_p.T262I|SLC44A2_uc002mph.3_Missense_Mutation_p.T91I|SLC44A2_uc002mpi.3_5'Flank	p.T542I	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		16	1764	+			542					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.1625C>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362563	0.41902	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.21734	1.99;1.99	5.25	3.09	0.35607	.	0.318910	0.35466	N	0.003193	T	0.14056	0.0340	L	0.29908	0.895	0.27705	N	0.94565	B;B;B	0.12630	0.005;0.006;0.003	B;B;B	0.21917	0.037;0.021;0.021	T	0.15723	-1.0427	10	0.52906	T	0.07	-14.003	5.4947	0.16795	0.0:0.5083:0.3164:0.1753	.	542;542;540	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	I	540;542;542	ENSP00000385135:T540I;ENSP00000336888:T542I	ENSP00000336888:T542I	T	+	2	0	SLC44A2	10609353	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.413000	0.34725	0.580000	0.29522	0.561000	0.74099	ACC		0.527	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			T	10748353	C	T	10748353	3	4	105	1	0	0	0	0	1	0	0	0	14636	507	18	3	1726	3	SLC44A2	19	10748353	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	2749354	10748353	48380630	67	7241											
ZNF709	163051	broad.mit.edu	37	chr19	12575471	12575471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctttaccacattgtttaCattcatggggtttctctcca	8	16	7	10	0	2	0	1	0	1	0	4	0	3	0	2	3	2	3	2	3	2	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:12575471C>T	ENST00000397732.3	-	4	1436	c.1265G>A	c.(1264-1266)tGt>tAt	p.C422Y	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.C422Y	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTGTTTACATTCATGGGG	0.408																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.4																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1264-1266)tGt>tAt		Homo sapiens zinc finger protein 709 (ZNF709), mRNA.							105	110	109					19																	12575471		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575471C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1265G>A	19.37:g.12575471C>T	ENSP00000380840:p.Cys422Tyr					ZNF709_uc002mtw.4_Missense_Mutation_p.C390Y|ZNF709_uc002mtx.4_Missense_Mutation_p.C422Y	p.C422Y	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			3	1426	-			422					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1265G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738693	0.69304	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	D;D	0.85088	-1.94;-1.94	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36854	N	0.002380	D	0.94095	0.8107	H	0.95745	3.715	0.46336	D	0.998996	D	0.89917	1.0	D	0.97110	1.0	D	0.95557	0.8626	10	0.87932	D	0	.	13.9868	0.64341	0.0:1.0:0.0:0.0	.	422	Q8N972	ZN709_HUMAN	Y	422	ENSP00000380840:C422Y;ENSP00000404127:C422Y	ENSP00000404127:C422Y	C	-	2	0	ZNF709;CTD-2192J16.17	12436471	1.000000	0.71417	0.044000	0.18714	0.976000	0.68499	6.372000	0.73123	2.032000	0.59987	0.591000	0.81541	TGT		0.408	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12575471	C	T	12575471	3	4	105	1	0	0	0	0	1	0	0	0	18110	478	17	3	664	3	ZNF709	19	12575471	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	1827118	12575471	46553512	68	7242											
ZNF570	148268	broad.mit.edu	37	chr19	37975633	37975633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagcatttagccttcGtgcataccttactgtacatc	10	13	8	10	1	0	0	0	0	0	0	2	1	0	1	2	1	6	3	2	1	5	6	rs146360083		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:37975633G>A	ENST00000330173.1	+	5	1638	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	ZNF570_ENST00000388801.3_Missense_Mutation_p.R167H|ZNF570_ENST00000586475.1_Missense_Mutation_p.R426H	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCTTCGTGCATACCTT	0.423																																						uc010efl.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(1276-1278)cGt>cAt		Homo sapiens zinc finger protein 570 (ZNF570), mRNA.							88	84	85					19																	37975633		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975633G>A	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1109G>A	19.37:g.37975633G>A	ENSP00000331540:p.Arg370His					ZNF570_uc002ogk.1_Missense_Mutation_p.R370H|ZNF570_uc010xtr.1_Missense_Mutation_p.R167H	p.R426H	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1396	+			370					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.1277G>A	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194731	0.38806	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.08370	3.1;3.1	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.603269	0.13446	N	0.387245	T	0.16300	0.0392	L	0.48642	1.525	0.22468	N	0.999073	B;D	0.89917	0.008;1.0	B;D	0.64687	0.002;0.928	T	0.07849	-1.0751	10	0.10377	T	0.69	.	10.1378	0.42717	0.099:0.0:0.901:0.0	.	167;370	B4DMP1;Q96NI8	.;ZN570_HUMAN	H	370;167	ENSP00000331540:R370H;ENSP00000373453:R167H	ENSP00000331540:R370H	R	+	2	0	ZNF570	42667473	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.256000	0.18351	2.317000	0.78254	0.563000	0.77884	CGT		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		A	37975633	G	A	37975633	3	1	105	1	0	0	0	0	1	0	0	0	17999	1145	40	1	1123	1	ZNF570	19	37975633	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	25400162	37975633	21153350	69	7243											
ARHGAP35	2909	broad.mit.edu	37	chr19	47422855	47422855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctccagaataccaggactAtgtctacctggaagggactc	11	9	9	12	0	2	1	0	0	2	1	4	4	2	4	3	3	2	0	3	3	5	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:47422855A>G	ENST00000404338.3	+	1	923	c.923A>G	c.(922-924)tAt>tGt	p.Y308C		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	308	FF 1.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TACCAGGACTATGTCTACCTG	0.502																																						uc010ekv.3																			0											c.(922-924)tAt>tGt		Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.							31	32	32					19																	47422855		1980	4165	6145	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422855A>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.923A>G	19.37:g.47422855A>G	ENSP00000385720:p.Tyr308Cys						p.Y308C	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN			0	923	+			308			FF 1.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.923A>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230887	0.58777	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.12465	2.68	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02173	-1.1201	10	0.87932	D	0	-25.9735	15.4607	0.75353	1.0:0.0:0.0:0.0	.	308	Q9NRY4-2	.	C	308	ENSP00000385720:Y308C	ENSP00000324820:Y308C	Y	+	2	0	ARHGAP35	52114695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.327000	0.79147	2.288000	0.76882	0.528000	0.53228	TAT		0.502	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		G	47422855	A	G	47422855	3	3	105	1	0	0	0	0	1	0	0	0	6795	449	16	4	925	4	ARHGAP35	19	47422855	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	9447222	47422855	11706128	70	7244											
LILRA5	353514	broad.mit.edu	37	chr19	54823844	54823844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggcagggctcacggcGtctcctcccactggctgcag	6	7	14	14	2	2	1	1	1	1	0	4	1	3	1	2	4	1	4	2	4	0	0	rs143927346	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:54823844G>A	ENST00000301219.3	-	2	170	c.51C>T	c.(49-51)gaC>gaT	p.D17D	LILRA5_ENST00000432233.3_Silent_p.D17D|LILRA5_ENST00000346508.3_Silent_p.D17D|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.D17D	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	17					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCACGGCGTCTCCTCCCA	0.632													G|||	4	0.000798722	8e-04	0	5008	,	,		17131	0		0.003	False		,,,				2504	0					uc002qfe.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(49-51)gaC>gaT		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.		G	,,,	3,4403	6.2+/-15.9	0,3,2200	51	40	44		51,51,51,51	-5.5	0	19	dbSNP_134	44	25,8575	17.3+/-56.4	0,25,4275	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRA5	NM_021250.2,NM_181879.2,NM_181985.2,NM_181986.2	,,,	0,28,6475	AA,AG,GG		0.2907,0.0681,0.2153	,,,	17/300,17/266,17/288,17/254	54823844	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823844G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.51C>T	19.37:g.54823844G>A						LILRA5_uc002qff.3_Silent_p.D17D|LILRA5_uc010yev.2_Silent_p.D17D|LILRA5_uc010yew.2_Silent_p.D17D|LILRA5_uc002qfg.1_Silent_p.D17D|LILRA5_uc002qfh.1_Silent_p.D17D	p.D17D	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	1	171	-	Ovarian(34;0.19)		17					A6NHI3	Silent	SNP	ENST00000301219.3	37	c.51C>T	CCDS12888.1																																																																																				0.632	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		A	54823844	G	A	54823844	2	1	105	1	0	0	0	0	0	0	0	1	8788	1136	40	1		1	LILRA5	19	54823844	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	7400989	54823844	4305139	71	7245											
PCSK2	5126	broad.mit.edu	37	chr20	17446060	17446060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtccatcagtggcggcGcaatggggtcggcctggaat	7	7	17	10	4	1	0	1	0	0	0	3	2	2	1	2	7	0	1	2	7	2	0	rs567308071		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:17446060G>A	ENST00000262545.2	+	11	1607	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PCSK2_ENST00000377899.1_Missense_Mutation_p.R412H|PCSK2_ENST00000536609.1_Missense_Mutation_p.R396H|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	431	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAGTGGCGGCGCAATGGGGTC	0.567																																						uc002wpm.3																			0		p.R431C(1)|p.R430Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1291-1293)cGc>cAc		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						97	70	79					20																	17446060		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446060G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1292G>A	20.37:g.17446060G>A	ENSP00000262545:p.Arg431His					PCSK2_uc002wpl.3_Missense_Mutation_p.R412H|PCSK2_uc010zrm.2_Missense_Mutation_p.R396H|PCSK2_uc002wpn.3_Missense_Mutation_p.R85H	p.R431H	NM_002594	NP_001188457	P16519	NEC2_HUMAN			10	1646	+			431					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1292G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603077	0.66445	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87966	-2.32;-2.32;-2.32	5.61	4.66	0.58398	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.90038	0.6889	L	0.49571	1.57	0.58432	D	0.999999	D;D;D	0.67145	0.981;0.99;0.996	P;P;D	0.63488	0.841;0.841;0.915	D	0.89484	0.3752	10	0.44086	T	0.13	-24.9218	13.3526	0.60611	0.0765:0.0:0.9235:0.0	.	396;412;431	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	H	412;431;396	ENSP00000367131:R412H;ENSP00000262545:R431H;ENSP00000437458:R396H	ENSP00000262545:R431H	R	+	2	0	PCSK2	17394060	1.000000	0.71417	0.963000	0.40424	0.743000	0.42351	9.461000	0.97646	1.376000	0.46267	0.555000	0.69702	CGC		0.567	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		A	17446060	G	A	17446060	3	1	105	1	0	0	0	0	1	0	0	0	11601	1087	38	1	1334	1	PCSK2	20	17446060	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		17446060	45579460	72	7246											
SYCP2	10388	broad.mit.edu	37	chr20	58444912	58444912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattcaatttccataaaccGttcttctgaactataactgc	13	14	4	10	1	3	2	1	1	2	1	4	2	4	2	2	0	4	1	2	0	6	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:58444912G>A	ENST00000357552.3	-	36	3907	c.3682C>T	c.(3682-3684)Cgg>Tgg	p.R1228W	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1228W			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1228					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCATAAACCGTTCTTCTGAA	0.294																																						uc002yaz.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3682-3684)Cgg>Tgg		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							150	145	147					20																	58444912		2201	4297	6498	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58444912G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3682C>T	20.37:g.58444912G>A	ENSP00000350162:p.Arg1228Trp						p.R1228W	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		34	3821	-	all_lung(29;0.00344)		1228					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3682C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402525	0.25291	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.14766	2.48;2.48	4.91	1.59	0.23543	.	1.832170	0.03193	N	0.173616	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.46975	0.533	T	0.23583	-1.0184	10	0.56958	D	0.05	6.902	6.819	0.23847	0.0:0.1636:0.4502:0.3862	.	1228	Q9BX26	SYCP2_HUMAN	W	1228	ENSP00000360040:R1228W;ENSP00000350162:R1228W	ENSP00000350162:R1228W	R	-	1	2	SYCP2	57878307	0.001000	0.12720	0.321000	0.25320	0.361000	0.29550	-0.606000	0.05654	0.440000	0.26502	0.563000	0.77884	CGG		0.294	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		A	58444912	G	A	58444912	3	1	105	1	0	0	0	0	1	0	0	0	15429	1144	40	1	950	1	SYCP2	20	58444912	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	40998852	58444912	4580608	73	7247											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021295	46021295	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgctgccagccAgcttgctgcacctcctccca	5	10	8	18	1	1	0	1	0	0	0	4	0	4	0	6	1	6	5	6	1	0	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr21:46021295A>C	ENST00000380102.2	+	1	799	c.774A>C	c.(772-774)ccA>ccC	p.P258P	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	258	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCCAGCCAGCTTGCTGCA	0.632																																						uc002zfn.4																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(757-759)ccA>ccC		Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.							140	141	141					21																	46021295		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021295A>C	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.774A>C	21.37:g.46021295A>C						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.P253P	NM_198689	NP_941962	P60409	KR107_HUMAN			1	784	+			258			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.759A>C																																																																																					0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		C	46021295	A	C	46021295	2	2	105	1	0	0	0	0	0	0	0	1	8514	175	7	5		5	KRTAP10-7	21	46021295	Silent	SNP	A	TCGA-06-6697-01A-11D-1845-08		46021295	2108600	74	7248											
LZTR1	8216	broad.mit.edu	37	chr22	21342314	21342314	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggggttacactggggAcatttattccaattctaact	10	13	9	9	0	2	0	1	0	1	0	3	1	3	1	1	4	2	1	1	4	4	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:21342314A>C	ENST00000215739.8	+	5	775	c.416A>C	c.(415-417)gAc>gCc	p.D139A	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.D120A	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	139					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACACTGGGGACATTTATTCC	0.453																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(415-417)gAc>gCc		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							79	80	80					22																	21342314		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21342314A>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.416A>C	22.37:g.21342314A>C	ENSP00000215739:p.Asp139Ala					LZTR1_uc002ztn.3_Missense_Mutation_p.D98A|LZTR1_uc011ahy.2_Missense_Mutation_p.D120A|LZTR1_uc010gsr.1_Missense_Mutation_p.D10A	p.D139A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	519	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	139					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.416A>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581249	0.86748	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.59224	0.67;0.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;0.999;0.996	T	0.73522	-0.3956	10	0.49607	T	0.09	-41.8248	13.5984	0.62004	1.0:0.0:0.0:0.0	.	120;98;139;98	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	A	98;139;120	ENSP00000215739:D139A;ENSP00000374006:D120A	ENSP00000215739:D139A	D	+	2	0	LZTR1	19672314	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.313000	0.96297	2.102000	0.63906	0.459000	0.35465	GAC		0.453	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		C	21342314	A	C	21342314	3	2	105	1	0	0	0	0	1	0	0	0	9137	275	10	5	434	5	LZTR1	22	21342314	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08		21342314	29962252	75	7249											
MYO18B	84700	broad.mit.edu	37	chr22	26348345	26348345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcggtcatctgtgacctaGagaacaagacagagttccag	13	7	12	9	1	2	4	1	1	1	3	3	5	3	4	2	2	1	1	2	2	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:26348345G>C	ENST00000407587.2	+	38	6098	c.5929G>C	c.(5929-5931)Gag>Cag	p.E1977Q	MYO18B_ENST00000335473.7_Missense_Mutation_p.E1976Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1976Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1976	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTGACCTAGAGAACAAGAC	0.517																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5926-5928)Gag>Cag		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							67	72	70					22																	26348345		2039	4203	6242	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26348345G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5929G>C	22.37:g.26348345G>C	ENSP00000386096:p.Glu1977Gln					MYO18B_uc003aca.1_Missense_Mutation_p.E1857Q|MYO18B_uc010guy.1_Missense_Mutation_p.E1858Q|MYO18B_uc010guz.1_Missense_Mutation_p.E1856Q|MYO18B_uc011aka.1_Missense_Mutation_p.E1130Q|MYO18B_uc011akb.1_Missense_Mutation_p.E1489Q|MYO18B_uc010gva.1_5'Flank	p.E1976Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			37	6176	+			1976			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5926G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.164632	0.94727	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88741	-2.41;-2.41;-2.42	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	M	0.77820	2.39	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	D	0.94929	0.8080	10	0.87932	D	0	.	18.3618	0.90377	0.0:0.0:1.0:0.0	.	1489;1976;1977;1976	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Q	1976;1976;1977	ENSP00000441229:E1976Q;ENSP00000334563:E1976Q;ENSP00000386096:E1977Q	ENSP00000334563:E1976Q	E	+	1	0	MYO18B	24678345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.111000	0.94308	2.592000	0.87571	0.655000	0.94253	GAG		0.517	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26348345	G	C	26348345	3	2	105	1	0	0	0	0	1	0	0	0	10066	943	33	5	6072	5	MYO18B	22	26348345	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	5006031	26348345	24956221	76	7250											
SMC1B	27127	broad.mit.edu	37	chr22	45750854	45750854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaccatctgtggactcttGaaacttgtctctgacagtct	8	16	7	10	0	4	2	0	2	4	0	5	3	4	3	1	1	2	0	1	1	2	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:45750854G>C	ENST00000357450.4	-	20	3102	c.3103C>G	c.(3103-3105)Caa>Gaa	p.Q1035E	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q1035E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1035					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTGGACTCTTGAAACTTGTCT	0.408																																						uc003bgc.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3103-3105)Caa>Gaa		Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.							186	167	173					22																	45750854		1856	4104	5960	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45750854G>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3103C>G	22.37:g.45750854G>C	ENSP00000350036:p.Gln1035Glu					SMC1B_uc003bgd.3_Missense_Mutation_p.Q1035E	p.Q1035E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	19	3155	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1035					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.3103C>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657604	0.88154	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77358	-1.09;-0.98	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000062	T	0.81221	0.4777	M	0.72118	2.19	0.80722	D	1	P;P	0.45531	0.86;0.819	P;P	0.49528	0.535;0.614	T	0.76271	-0.3020	10	0.05436	T	0.98	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1035;1035	Q8NDV3-2;Q8NDV3-3	.;.	E	1035	ENSP00000350036:Q1035E;ENSP00000385902:Q1035E	ENSP00000350036:Q1035E	Q	-	1	0	SMC1B	44129518	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.720000	0.84759	2.826000	0.97356	0.655000	0.94253	CAA		0.408	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		C	45750854	G	C	45750854	3	2	105	1	0	0	0	0	1	0	0	0	14782	1299	45	5	628	5	SMC1B	22	45750854	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	19402509	45750854	5553712	77	7251											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299442	125299442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcttggagggattcagctCgatggcatggatgccgcagc	7	9	15	10	3	2	0	1	0	1	0	3	4	2	3	1	4	3	3	1	4	0	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrX:125299442C>T	ENST00000360028.2	-	1	492	c.466G>A	c.(466-468)Gag>Aag	p.E156K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.E156K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	156								p.E156K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGATTCAGCTCGATGGCATGG	0.682																																						uc004euk.2																			1	Substitution - Missense(1)	p.E156K(2)	large_intestine(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(466-468)Gag>Aag		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							74	80	78					X																	125299442		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299442C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.466G>A	X.37:g.125299442C>T	ENSP00000353128:p.Glu156Lys						p.E156K	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	639	-			156					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.466G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427559	0.25726	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35605	1.3;1.3	4.09	1.17	0.20885	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.29850	0.0746	M	0.63843	1.955	0.30271	N	0.792277	P	0.40144	0.704	B	0.31869	0.137	T	0.18524	-1.0334	9	0.25751	T	0.34	.	11.1969	0.48717	0.0:0.3976:0.6024:0.0	.	156	Q5VW00	DC122_HUMAN	K	156	ENSP00000441489:E156K;ENSP00000353128:E156K	ENSP00000353128:E156K	E	-	1	0	DCAF12L2	125127123	0.996000	0.38824	0.216000	0.23742	0.132000	0.20833	1.550000	0.36223	0.112000	0.17975	0.544000	0.68410	GAG		0.682	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299442	C	T	125299442	3	4	105	1	0	0	0	0	1	0	0	0	4265	893	31	2	929	2	DCAF12L2	23	125299442	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		125299442	29971118	78	7252											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605925	5605925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaaccttcgctccacGccaacaggccagaccgtcca	10	7	7	17	3	0	2	0	1	0	1	3	2	2	2	6	1	2	1	6	1	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrY:5605925G>A	ENST00000215473.6	+	6	3965	c.3965G>A	c.(3964-3966)cGc>cAc	p.R1322H				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1322					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGCTCCACGCCAACAGGCC	0.408																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3964-3966)cGc>cAc		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605925G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3965G>A	Y.37:g.5605925G>A	ENSP00000215473:p.Arg1322His					PCDH11Y_uc022ciy.1_Non-coding_Transcript	p.R1322H	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			4	4699	+			1322					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3965G>A																																																																																					0.408	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		A	5605925	G	A	5605925	3	1	105	1	0	0	0	0	1	0	0	0	11509	1087	38	1	4041	1	PCDH11Y	24	5605925	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		5605925	53767641	79	7253											
ATAD3C	219293	broad.mit.edu	37	chr1	1392509	1392509	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctccctctcgtccacagCctcctgctctttgtggatga	4	12	9	16	1	2	1	0	1	2	0	6	2	5	2	5	2	2	1	5	2	0	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:1392509C>T	ENST00000378785.2	+	8	1685	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	230							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTCCACAGCCTCCTGCTCT	0.642																																						uc001aft.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.e8-1		Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.							74	66	69					1																	1392509		692	1591	2283	SO:0001630	splice_region_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1392509C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.690-1C>T	1.37:g.1392509C>T							p.G230_splice	NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	1685	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	230					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.690_splice	CCDS44039.1																																																																																				0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211	Silent	T	1392509	C	T	1392509	5	4	106	1	0	0	0	0	0	0	1	0	1075	753	26	3	720	3	ATAD3C	1	1392509	Splice_Site	SNP	C	TCGA-06-6698-01A-11D-1845-08		1392509	247858112	1	7254											
KAZ	23254	broad.mit.edu	37	chr1	15441012	15441012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcagcagcaaagatcccGatttccatgatgactatggc	11	10	9	11	1	1	3	1	2	0	1	3	4	3	3	2	1	2	3	2	1	2	3	rs201963397		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:15441012G>A	ENST00000376030.2	+	15	2503	c.2209G>A	c.(2209-2211)Gat>Aat	p.D737N	TMEM51-AS1_ENST00000310916.3_RNA	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	737					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAAAGATCCCGATTTCCATGA	0.493																																						uc001avm.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(2209-2211)Gat>Aat		Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.							76	61	66					1																	15441012		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15441012G>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2209G>A	1.37:g.15441012G>A	ENSP00000365198:p.Asp737Asn					C1orf126_uc001avv.4_Non-coding_Transcript|C1orf126_uc009voh.3_Non-coding_Transcript|KAZN_uc001avs.4_Missense_Mutation_p.D184N	p.D737N	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			14	2490	+			737					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.2209G>A	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325729	0.60743	.	.	ENSG00000189337	ENST00000376030	T	0.17528	2.27	5.32	5.32	0.75619	.	0.000000	0.52532	D	0.000074	T	0.26304	0.0642	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.02901	-1.1096	10	0.56958	D	0.05	-23.0468	14.4935	0.67667	0.0:0.0:1.0:0.0	.	737	Q674X7	KAZRN_HUMAN	N	737	ENSP00000365198:D737N	ENSP00000365198:D737N	D	+	1	0	KAZN	15313599	0.999000	0.42202	0.999000	0.59377	0.825000	0.46686	4.861000	0.62969	2.469000	0.83416	0.655000	0.94253	GAT		0.493	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		A	15441012	G	A	15441012	3	1	106	1	0	0	0	0	1	0	0	0	7988	1058	37	2	2523	2	KAZ	1	15441012	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	14048503	15441012	233809609	2	7255											
HP1BP3	50809	broad.mit.edu	37	chr1	21106349	21106349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcttgcttttgggaggaGtttcccgggtagaattcaca	9	12	12	8	1	1	1	1	0	0	1	2	3	2	3	1	3	2	4	1	3	3	6			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:21106349G>A	ENST00000312239.5	-	3	291	c.152C>T	c.(151-153)aCt>aTt	p.T51I	HP1BP3_ENST00000375000.1_Missense_Mutation_p.T51I|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	51					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTTGGGAGGAGTTTCCCGGGT	0.403																																						uc001bdy.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(151-153)aCt>aTt		Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.							86	84	85					1																	21106349		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21106349G>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.152C>T	1.37:g.21106349G>A	ENSP00000312625:p.Thr51Ile					HP1BP3_uc001bdv.1_Missense_Mutation_p.T13I|HP1BP3_uc001bdw.1_Missense_Mutation_p.T51I|HP1BP3_uc010odh.1_Missense_Mutation_p.T13I|HP1BP3_uc001bea.2_Missense_Mutation_p.T50I|HP1BP3_uc001beb.3_Missense_Mutation_p.T51I	p.T51I	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	1	252	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	51					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.152C>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033460	0.54896	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000438032;ENST00000424732;ENST00000417710;ENST00000375000;ENST00000437575;ENST00000419490;ENST00000414993;ENST00000443615	T;T;T	0.50813	0.73;1.73;1.76	6.02	6.02	0.97574	.	0.186026	0.46758	D	0.000267	T	0.58323	0.2114	N	0.24115	0.695	0.49915	D	0.999834	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.87578	0.998;0.996;0.979	T	0.60939	-0.7163	10	0.87932	D	0	-11.7046	18.7212	0.91694	0.0:0.0:1.0:0.0	.	51;13;51	Q5SSJ5-5;Q5SSJ5-2;Q5SSJ5	.;.;HP1B3_HUMAN	I	51;13;51;13;51;51;13;13;51;13	ENSP00000312625:T51I;ENSP00000403039:T51I;ENSP00000402754:T13I	ENSP00000312625:T51I	T	-	2	0	HP1BP3	20978936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.069000	0.71209	2.865000	0.98341	0.655000	0.94253	ACT		0.403	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		A	21106349	G	A	21106349	3	1	106	1	0	0	0	0	1	0	0	0	7328	1029	36	3	1553	3	HP1BP3	1	21106349	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5665337	21106349	228144272	3	7256											
PEX11B	8799	broad.mit.edu	37	chr1	145517332	145517332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggcatggagccagtcCtgagttacagaaacagattc	13	7	12	9	0	0	4	0	1	0	3	2	5	1	5	2	2	3	3	2	2	2	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:145517332C>T	ENST00000369306.3	+	2	265	c.116C>T	c.(115-117)cCt>cTt	p.P39L	PEX11B_ENST00000537888.1_Missense_Mutation_p.P25L|GNRHR2_ENST00000312753.5_RNA	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	39					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCCAGTCCTGAGTTACAG	0.537																																						uc001eny.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(115-117)cCt>cTt		Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.							144	125	131					1																	145517332		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145517332C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.116C>T	1.37:g.145517332C>T	ENSP00000358312:p.Pro39Leu					GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Missense_Mutation_p.P25L	p.P39L	NM_003846	NP_003837	O96011	PX11B_HUMAN			1	352	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		39					B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.116C>T	CCDS917.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688878	0.68271	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.44482	0.92;0.92	5.06	4.15	0.48705	.	0.055536	0.64402	D	0.000001	T	0.18593	0.0446	L	0.36672	1.1	0.53688	D	0.999979	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08472	-1.0720	10	0.59425	D	0.04	-4.2493	11.0885	0.48102	0.0:0.9105:0.0:0.0895	.	25;39	B4DXH9;O96011	.;PX11B_HUMAN	L	39;25	ENSP00000358312:P39L;ENSP00000437510:P25L	ENSP00000358312:P39L	P	+	2	0	PEX11B	144228689	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	4.181000	0.58303	1.359000	0.45940	0.655000	0.94253	CCT		0.537	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		T	145517332	C	T	145517332	3	4	106	1	0	0	0	0	1	0	0	0	11738	681	24	3	140	3	PEX11B	1	145517332	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	124410983	145517332	103733289	4	7257											
IQGAP3	128239	broad.mit.edu	37	chr1	156524129	156524129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagggcccggttaatcAggaccacagctgagagcatc	10	6	11	14	1	1	1	1	1	0	1	3	3	2	2	4	3	2	3	4	3	1	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:156524129A>G	ENST00000361170.2	-	13	1356	c.1346T>C	c.(1345-1347)cTg>cCg	p.L449P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	449					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGGTTAATCAGGACCACAGC	0.622																																						uc001fpf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(1345-1347)cTg>cCg		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.							44	45	45					1																	156524129		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156524129A>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1346T>C	1.37:g.156524129A>G	ENSP00000354451:p.Leu449Pro					IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	p.L449P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			12	1421	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		449					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1346T>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383631	0.82792	.	.	ENSG00000183856	ENST00000361170	T	0.14144	2.53	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000011	T	0.28200	0.0696	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.07083	-1.0791	10	0.29301	T	0.29	-10.5994	13.6206	0.62134	1.0:0.0:0.0:0.0	.	449	Q86VI3	IQGA3_HUMAN	P	449	ENSP00000354451:L449P	ENSP00000354451:L449P	L	-	2	0	IQGAP3	154790753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.894000	0.54839	0.459000	0.35465	CTG		0.622	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		G	156524129	A	G	156524129	3	3	106	1	0	0	0	0	1	0	0	0	7816	188	7	4	3653	4	IQGAP3	1	156524129	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	11006797	156524129	92726492	5	7258											
C1orf125	126859	broad.mit.edu	37	chr1	179460808	179460808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgatataggagttgcgCgattggagctagatgcgatt	12	11	13	5	3	0	2	0	1	0	1	0	6	0	4	0	2	4	2	0	2	4	6			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:179460808C>G	ENST00000367618.3	+	19	2614	c.2227C>G	c.(2227-2229)Cga>Gga	p.R743G		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	743								p.R743*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAGTTGCGCGATTGGAGCT	0.413																																						uc001gmo.3																			1	Substitution - Nonsense(1)	p.R743*(2)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2227-2229)Cga>Gga		Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.							168	162	164					1																	179460808		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179460808C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2227C>G	1.37:g.179460808C>G	ENSP00000356590:p.Arg743Gly					AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R701G|AXDND1_uc009wxh.3_Non-coding_Transcript	p.R743G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			18	2614	+			743					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2227C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629358	0.28978	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21932	1.98;1.98	5.5	-2.1	0.07210	.	1.326530	0.05005	N	0.469855	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B;B	0.20164	0.023;0.042	B;B	0.15484	0.013;0.013	T	0.34750	-0.9816	10	0.51188	T	0.08	-4.0432	7.941	0.29959	0.2199:0.5028:0.2773:0.0	.	701;743	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	G	743;701;677	ENSP00000356590:R743G;ENSP00000391716:R677G	ENSP00000353471:R701G	R	+	1	2	AXDND1	177727431	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.030000	0.12308	-0.660000	0.05352	0.591000	0.81541	CGA		0.413	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		G	179460808	C	G	179460808	3	3	106	1	0	0	0	0	1	0	0	0	1993	760	27	5	2297	5	C1orf125	1	179460808	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	22936679	179460808	69789813	6	7259											
F13B	2165	broad.mit.edu	37	chr1	197021962	197021962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccacattaacagtacatgGttctgtaaaacaaaatgctc	16	11	5	9	0	1	0	0	0	1	0	3	0	2	0	1	1	4	4	1	1	6	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:197021962G>A	ENST00000367412.1	-	9	1400	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	453	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGTACATGGTTCTGTAAAA	0.259																																						uc001gtt.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1357-1359)Cca>Tca		Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.							73	76	75					1																	197021962		2203	4294	6497	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021962G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1357C>T	1.37:g.197021962G>A	ENSP00000356382:p.Pro453Ser						p.P453S	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1401	-			453			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1357C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051106	0.75960	.	.	ENSG00000143278	ENST00000367412	D	0.92911	-3.13	5.47	5.47	0.80525	Complement control module (1);	0.000000	0.32819	N	0.005617	D	0.93377	0.7888	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90059	0.4155	10	0.12103	T	0.63	.	19.33	0.94281	0.0:0.0:1.0:0.0	.	453	P05160	F13B_HUMAN	S	453	ENSP00000356382:P453S	ENSP00000356382:P453S	P	-	1	0	F13B	195288585	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	6.450000	0.73477	2.560000	0.86352	0.655000	0.94253	CCA		0.259	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		A	197021962	G	A	197021962	3	1	106	1	0	0	0	0	1	0	0	0	5341	1261	44	3	644	3	F13B	1	197021962	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	17561154	197021962	52228659	7	7260											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285033	217285033	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcagtgaaagcagccCagagcctccccacggtcaac	10	6	10	15	1	1	2	1	1	0	1	2	2	2	2	4	2	4	2	4	2	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr2:217285033C>T	ENST00000357276.4	+	5	1204	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	SMARCAL1_ENST00000358207.5_Nonsense_Mutation_p.Q292*	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	292	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAAAGCAGCCCAGAGCCTCCC	0.557									Schimke Immuno-Osseous Dysplasia																													uc002vgc.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(874-876)Cag>Tag		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.							44	40	41					2																	217285033		2203	4300	6503	SO:0001587	stop_gained	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285033C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.874C>T	2.37:g.217285033C>T	ENSP00000349823:p.Gln292*					SMARCAL1_uc002vgd.4_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.3_Nonsense_Mutation_p.Q292*	p.Q292*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	4	1204	+		Renal(323;0.0458)	292			HARP 1.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP	ENST00000357276.4	37	c.874C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029918	0.35797	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	.	.	.	4.64	1.71	0.24356	.	0.928117	0.09285	N	0.823171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-1.8382	8.2091	0.31473	0.2648:0.4251:0.3101:0.0	.	.	.	.	X	292;292;191;156;12	.	ENSP00000349823:Q292X	Q	+	1	0	SMARCAL1	216993278	0.042000	0.20092	0.434000	0.26772	0.213000	0.24496	0.395000	0.20850	0.156000	0.19299	-0.310000	0.09108	CAG		0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			T	217285033	C	T	217285033	4	4	106	1	0	0	0	0	0	1	0	0	14773	595	21	3	884	3	SMARCAL1	2	217285033	Nonsense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		217285033	25914340	8	7261											
PIK3CB	5291	broad.mit.edu	37	chr3	138374298	138374298	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtccagctttccctgAgcgcctcatcaaatttttgc	8	14	7	12	1	2	1	2	1	0	0	4	1	4	1	3	0	3	2	3	0	3	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr3:138374298A>C	ENST00000477593.1	-	23	3219	c.3146T>G	c.(3145-3147)cTc>cGc	p.L1049R	PIK3CB_ENST00000544716.1_Missense_Mutation_p.L500R|PIK3CB_ENST00000289153.2_Missense_Mutation_p.L1049R			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1049	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GCTTTCCCTGAGCGCCTCATC	0.418																																						uc011bmq.2																			0		p.A1048V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3145-3147)cTc>cGc		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							123	114	117					3																	138374298		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374298A>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3146T>G	3.37:g.138374298A>C	ENSP00000418143:p.Leu1049Arg					PIK3CB_uc011bmn.2_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.2_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.2_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_Non-coding_Transcript	p.L1049R	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	3146	-			1049			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3146T>G	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.028699|4.028699	0.75504|0.75504	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	D;D;D|.	0.82433|.	-1.61;-1.61;-1.61|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.989;0.989;0.996|.	P;P;P|.	0.60949|.	0.881;0.762;0.696|.	T|T	0.80221|0.80221	-0.1472|-0.1472	10|5	0.45353|.	T|.	0.12|.	-13.4067|-13.4067	15.4158|15.4158	0.74966|0.74966	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1049;636;500|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	R|A	1049;500;1049|681	ENSP00000418143:L1049R;ENSP00000438259:L500R;ENSP00000289153:L1049R|.	ENSP00000289153:L1049R|.	L|S	-|-	2|1	0|0	PIK3CB|PIK3CB	139856988|139856988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.139000|9.139000	0.94554|0.94554	2.226000|2.226000	0.72624|0.72624	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.418	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			C	138374298	A	C	138374298	3	2	106	1	0	0	0	0	1	0	0	0	11914	304	11	5	68	5	PIK3CB	3	138374298	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		138374298	59648132	9	7262											
RBM47	54502	broad.mit.edu	37	chr4	40440532	40440532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgagctcacgcactgCgcgcttggcctcgtgcttgt	3	13	13	12	4	1	1	1	1	0	0	2	1	1	1	1	1	3	6	1	1	0	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr4:40440532C>T	ENST00000381793.2	-	3	775	c.379G>A	c.(379-381)Gca>Aca	p.A127T	RBM47_ENST00000381795.6_Missense_Mutation_p.A127T|RBM47_ENST00000295971.7_Missense_Mutation_p.A127T|RBM47_ENST00000514014.1_Missense_Mutation_p.A89T|RBM47_ENST00000319592.4_Missense_Mutation_p.A127T|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCACGCACTGCGCGCTTGGCC	0.642																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(379-381)Gca>Aca		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							61	51	55					4																	40440532		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440532C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.379G>A	4.37:g.40440532C>T	ENSP00000371212:p.Ala127Thr					RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	p.A127T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1089	-			127			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.379G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965244	0.92855	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.82818	-0.0269	10	0.87932	D	0	-18.5386	19.5736	0.95432	0.0:1.0:0.0:0.0	.	127;127	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	127;127;127;127;89;127;127;127;127	ENSP00000320108:A127T;ENSP00000371212:A127T;ENSP00000371214:A127T;ENSP00000295971:A127T;ENSP00000423243:A89T;ENSP00000422564:A127T;ENSP00000421589:A127T;ENSP00000423527:A127T;ENSP00000426542:A127T	ENSP00000295971:A127T	A	-	1	0	RBM47	40135289	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.813000	0.86123	2.635000	0.89317	0.313000	0.20887	GCA		0.642	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440532	C	T	40440532	3	4	106	1	0	0	0	0	1	0	0	0	13141	768	27	1	1418	1	RBM47	4	40440532	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		40440532	150713744	10	7263											
FYB	2533	broad.mit.edu	37	chr5	39202820	39202820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccagtgggctttagaaaCgggggcttgggttccttgtc	5	12	15	9	1	0	1	0	0	0	1	3	1	2	1	2	4	1	4	2	4	2	5	rs370543019		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:39202820C>T	ENST00000351578.6	-	2	433	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FYB_ENST00000505428.1_Silent_p.P81P|FYB_ENST00000512982.1_Silent_p.P81P|FYB_ENST00000540520.1_Silent_p.P91P|FYB_ENST00000515010.1_Silent_p.P81P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	81					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTAGAAACGGGGGCTTGG	0.552													c|||	1	0.000199681	0	0	5008	,	,		15957	0.001		0	False		,,,				2504	0					uc003jls.3																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(241-243)ccG>ccA		Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.		T	,	2,3712		0,2,1855	43	42	42		243,243	-12.3	0	5		42	0,8228		0,0,4114	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,2,5969	TT,TC,CC		0.0,0.0539,0.0167	,	81/830,81/784	39202820	2,11940	1857	4114	5971	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202820C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.243G>A	5.37:g.39202820C>T						FYB_uc003jlt.3_Silent_p.P81P|FYB_uc003jlu.3_Silent_p.P81P|FYB_uc011cpl.2_Silent_p.P91P	p.P81P	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		0	310	-	all_lung(31;0.000343)		81					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.243G>A	CCDS47200.1																																																																																				0.552	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		T	39202820	C	T	39202820	2	4	106	1	0	0	0	0	0	0	0	1	6124	523	19	1		1	FYB	5	39202820	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		39202820	141712440	11	7264											
NUDT12	83594	broad.mit.edu	37	chr5	102891710	102891710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatctcttatagccacCttcttcaattttagttgcat	11	17	3	10	0	3	0	1	0	2	0	4	0	3	0	2	0	2	2	2	0	5	8			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:102891710C>T	ENST00000230792.2	-	4	982	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.G278S	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	296					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTATAGCCACCTTCTTCAATT	0.393																																						uc003koi.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(886-888)Ggt>Agt		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.							117	113	114					5																	102891710		2202	4299	6501	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102891710C>T	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.886G>A	5.37:g.102891710C>T	ENSP00000230792:p.Gly296Ser					NUDT12_uc011cvb.2_Missense_Mutation_p.G278S	p.G296S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	979	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	296					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.886G>A	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558572	0.86231	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.41758	0.99;0.99	5.34	5.34	0.76211	NUDIX hydrolase domain (1);Zinc ribbon, NADH pyrophosphatase (1);NUDIX hydrolase domain-like (1);	0.090855	0.85682	D	0.000000	T	0.62171	0.2406	M	0.62723	1.935	0.80722	D	1	D;D	0.65815	0.995;0.976	D;D	0.64595	0.927;0.912	T	0.61178	-0.7115	10	0.49607	T	0.09	-12.6152	19.3897	0.94576	0.0:1.0:0.0:0.0	.	278;296	E7EM93;Q9BQG2	.;NUD12_HUMAN	S	296;278	ENSP00000230792:G296S;ENSP00000424521:G278S	ENSP00000230792:G296S	G	-	1	0	NUDT12	102919609	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	7.320000	0.79064	2.646000	0.89796	0.650000	0.86243	GGT		0.393	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		T	102891710	C	T	102891710	3	4	106	1	0	0	0	0	1	0	0	0	10728	681	24	3	518	3	NUDT12	5	102891710	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	63688890	102891710	78023550	12	7265											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711002	140711002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacaataccatataaatGtccccgaaaacgtgccgctg	14	7	8	12	3	0	0	0	0	0	0	1	1	1	0	4	1	3	2	4	1	7	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:140711002G>A	ENST00000517417.1	+	1	751	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V251I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATATAAATGTCCCCGAAAA	0.493																																						uc003lji.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(751-753)Gtc>Atc		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							65	64	65					5																	140711002		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711002G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.751G>A	5.37:g.140711002G>A	ENSP00000431083:p.Val251Ile					PCDHGC5_uc011dan.2_Missense_Mutation_p.V251I	p.V251I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	751	+			251			Cadherin 3.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.751G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	2.084	-0.410090	0.04799	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.53857	0.6;0.6	4.2	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000456	T	0.43233	0.1238	L	0.38692	1.165	0.09310	N	1	P;B	0.35527	0.507;0.325	B;B	0.40375	0.309;0.327	T	0.36915	-0.9728	10	0.56958	D	0.05	.	7.1842	0.25791	0.2753:0.0:0.7247:0.0	.	251;251	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	251	ENSP00000431083:V251I;ENSP00000367345:V251I	ENSP00000367345:V251I	V	+	1	0	PCDHGA1	140691186	0.007000	0.16637	0.067000	0.19924	0.015000	0.08874	0.106000	0.15354	1.133000	0.42147	0.655000	0.94253	GTC		0.493	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140711002	G	A	140711002	3	1	106	1	0	0	0	0	1	0	0	0	11550	1377	48	3	753	3	PCDHGA1	5	140711002	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	37819292	140711002	40204258	13	7266											
RUFY1	80230	broad.mit.edu	37	chr5	179036447	179036447	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagctggccctgccctcctAccccaagccggtgcgagtgt	5	7	12	17	3	0	0	0	0	0	0	1	2	1	0	6	2	5	1	6	2	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:179036447A>C	ENST00000319449.4	+	18	2066	c.2054A>C	c.(2053-2055)tAc>tCc	p.Y685S	RUFY1_ENST00000437570.2_Missense_Mutation_p.Y577S|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000393438.2_Missense_Mutation_p.Y577S	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	685					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCCTCCTACCCCAAGCCG	0.647										HNSCC(44;0.11)																												uc003mka.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(2053-2055)tAc>tCc		Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.							64	49	54					5																	179036447		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179036447A>C	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.2054A>C	5.37:g.179036447A>C	ENSP00000325594:p.Tyr685Ser	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	p.Y685S	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	2054	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	685					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.2054A>C	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	N	10.23	1.293385	0.23564	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.70516	-0.49;-0.49;-0.49	5.23	5.23	0.72850	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.01417	-0.88	0.80722	D	1	B	0.27765	0.188	B	0.36666	0.23	T	0.52689	-0.8542	10	0.02654	T	1	-17.4777	15.4023	0.74852	1.0:0.0:0.0:0.0	.	685	Q96T51	RUFY1_HUMAN	S	685;577;577;287	ENSP00000325594:Y685S;ENSP00000390025:Y577S;ENSP00000377087:Y577S	ENSP00000325594:Y685S	Y	+	2	0	RUFY1	178969053	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.025000	0.70864	2.106000	0.64143	0.448000	0.29417	TAC		0.647	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		C	179036447	A	C	179036447	3	2	106	1	0	0	0	0	1	0	0	0	13738	391	14	5	2124	5	RUFY1	5	179036447	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	38325445	179036447	1878813	14	7267											
CARD11	84433	broad.mit.edu	37	chr7	2951813	2951813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccccgcctcaccttggcgGccacagcttcaatgttggca	6	9	10	16	2	2	0	2	0	0	0	3	0	3	0	5	3	1	3	5	3	1	3	rs377327574		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:2951813G>A	ENST00000396946.4	-	23	3540	c.3137C>T	c.(3136-3138)gCc>gTc	p.A1046V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1046	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACCTTGGCGGCCACAGCTTC	0.602			Mis		DLBCL																																	uc003smv.3				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(3136-3138)gCc>gTc		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.		G	VAL/ALA	0,4406		0,0,2203	147	119	128		3137	4.5	0.8	7		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	CARD11	NM_032415.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1046/1155	2951813	1,13005	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2951813G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3137C>T	7.37:g.2951813G>A	ENSP00000380150:p.Ala1046Val						p.A1046V	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3471	-		Ovarian(82;0.0115)	1046			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.3137C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213199	0.22289	0.0	1.16E-4	ENSG00000198286	ENST00000396946	T	0.16897	2.31	4.53	4.53	0.55603	.	0.285643	0.28026	N	0.016891	T	0.14570	0.0352	L	0.54323	1.7	0.41226	D	0.986548	B	0.23058	0.079	B	0.19148	0.024	T	0.04320	-1.0960	10	0.02654	T	1	-13.3817	12.943	0.58357	0.0:0.1619:0.8381:0.0	.	1046	Q9BXL7	CAR11_HUMAN	V	1046	ENSP00000380150:A1046V	ENSP00000380150:A1046V	A	-	2	0	CARD11	2918339	1.000000	0.71417	0.803000	0.32268	0.252000	0.25951	6.790000	0.75115	2.064000	0.61679	0.655000	0.94253	GCC		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2951813	G	A	2951813	3	1	106	1	0	0	0	0	1	0	0	0	2645	1203	42	3	339	3	CARD11	7	2951813	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08		2951813	156186850	15	7268											
NXPH1	30010	broad.mit.edu	37	chr7	8791355	8791355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtacagaaagtgtgccctGactacaactaccacagtgac	13	8	9	11	0	0	3	0	2	0	1	0	3	0	3	2	1	5	1	2	1	5	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:8791355G>A	ENST00000405863.1	+	3	1683	c.772G>A	c.(772-774)Gac>Aac	p.D258N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D141N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	258	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTGTGCCCTGACTACAACTA	0.443																																						uc003srv.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(772-774)Gac>Aac		Homo sapiens neurexophilin 1 (NXPH1), mRNA.							30	27	28					7																	8791355		1898	4133	6031	SO:0001583	missense	30010					extracellular region		g.chr7:8791355G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.772G>A	7.37:g.8791355G>A	ENSP00000384551:p.Asp258Asn					NXPH1_uc011jxh.2_Missense_Mutation_p.D141N	p.D258N	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	2	1683	+		Ovarian(82;0.0628)	258			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.772G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290112	0.80914	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84732	0.0746	9	0.87932	D	0	-15.3082	19.6556	0.95837	0.0:0.0:1.0:0.0	.	258	P58417	NXPH1_HUMAN	N	258;141	.	ENSP00000384551:D258N	D	+	1	0	NXPH1	8757880	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.623000	0.98386	2.882000	0.98803	0.655000	0.94253	GAC		0.443	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		A	8791355	G	A	8791355	3	1	106	1	0	0	0	0	1	0	0	0	10790	1290	45	3	778	3	NXPH1	7	8791355	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5839542	8791355	150347308	16	7269											
ZNF713	349075	broad.mit.edu	37	chr7	56007178	56007178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggccttcagccacaccTcatctcttagccagcctcag	9	8	8	16	0	4	0	3	0	1	0	5	1	4	1	5	2	3	0	5	2	2	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:56007178T>C	ENST00000429591.2	+	4	810	c.772T>C	c.(772-774)Tca>Cca	p.S258P	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCCACACCTCATCTCTTAG	0.423																																						uc003tra.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(811-813)Tca>Cca		Homo sapiens zinc finger protein 713 (ZNF713), mRNA.							57	59	58					7																	56007178		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007178T>C	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.772T>C	7.37:g.56007178T>C	ENSP00000416662:p.Ser258Pro					ZNF713_uc003trc.1_Missense_Mutation_p.S258P	p.S271P	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1618	+	Breast(14;0.214)		258						Missense_Mutation	SNP	ENST00000429591.2	37	c.811T>C	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	T	5.502	0.277581	0.10403	.	.	ENSG00000178665	ENST00000429591	T	0.18810	2.19	3.27	2.13	0.27403	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32416	N	0.006123	T	0.25680	0.0625	M	0.88181	2.935	0.09310	N	1	P	0.44521	0.837	B	0.37451	0.25	T	0.32161	-0.9917	10	0.87932	D	0	.	6.6377	0.22891	0.0:0.1205:0.0:0.8795	.	258	Q8N859	ZN713_HUMAN	P	258	ENSP00000416662:S258P	ENSP00000416662:S258P	S	+	1	0	ZNF713	55974672	0.002000	0.14202	0.391000	0.26233	0.015000	0.08874	0.394000	0.20834	0.656000	0.30886	0.482000	0.46254	TCA		0.423	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		C	56007178	T	C	56007178	3	2	106	1	0	0	0	0	1	0	0	0	18114	1551	54	4	786	4	ZNF713	7	56007178	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08	47215823	56007178	103131485	17	7270											
AHCYL2	23382	broad.mit.edu	37	chr7	129062691	129062691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttccaggcgagtctgcGgacaccagaactgacctggg	8	8	14	11	2	1	2	0	1	1	1	2	4	2	3	3	3	2	1	3	3	1	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:129062691G>T	ENST00000325006.3	+	13	1526	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	AHCYL2_ENST00000474594.1_Missense_Mutation_p.R388L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R490L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R389L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R410L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R388L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	491					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.R491L(1)|p.R388L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGAGTCTGCGGACACCAGAA	0.507																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.2																			2	Substitution - Missense(2)	p.R491L(2)|p.R388L(1)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1471-1473)cGg>cTg		Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.							174	151	159					7																	129062691		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129062691G>T	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1472G>T	7.37:g.129062691G>T	ENSP00000315931:p.Arg491Leu					AHCYL2_uc003vot.3_Missense_Mutation_p.R490L|AHCYL2_uc003vov.3_Missense_Mutation_p.R388L|AHCYL2_uc011kox.2_Missense_Mutation_p.R388L	p.R491L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			12	1535	+			491					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1472G>T	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.652830|3.652830	0.67472|0.67472	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.78364	.|-1.17;-1.17;-1.15;-1.14;-1.14;-1.14	5.37|5.37	5.37|5.37	0.77165|0.77165	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75946	.|0.3919	L|L	0.55017|0.55017	1.72|1.72	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B;B;B	.|0.17667	.|0.002;0.002;0.023;0.002;0.018	.|B;B;B;B;B	.|0.16722	.|0.01;0.01;0.016;0.01;0.009	.|T	.|0.73512	.|-0.3959	.|10	.|0.87932	.|D	.|0	-15.6671|-15.6671	17.6687|17.6687	0.88210|0.88210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|388;389;491;388;490	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	X|L	398|491;490;410;388;389;388	.|ENSP00000315931:R491L;ENSP00000413639:R490L;ENSP00000431787:R410L;ENSP00000420459:R388L;ENSP00000405267:R389L;ENSP00000420801:R388L	.|ENSP00000315931:R491L	G|R	+|+	1|2	0|0	AHCYL2|AHCYL2	128849927|128849927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.005000|8.005000	0.88553|0.88553	2.510000|2.510000	0.84645|0.84645	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.507	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			T	129062691	G	T	129062691	3	4	106	1	0	0	0	0	1	0	0	0	411	1116	39	5	1644	5	AHCYL2	7	129062691	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	73055513	129062691	30075972	18	7271											
TP53INP1	94241	broad.mit.edu	37	chr8	95952365	95952365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgccggtaaacaggaaaAgactgaagggtgctcagtag	15	6	14	6	1	1	3	1	1	0	2	1	4	1	4	1	3	3	3	1	3	6	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:95952365A>G	ENST00000342697.4	-	3	603	c.196T>C	c.(196-198)Ttt>Ctt	p.F66L	TP53INP1_ENST00000448464.2_Missense_Mutation_p.F66L|TP53INP1_ENST00000378776.4_Missense_Mutation_p.F66L|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	66					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACAGGAAAAGACTGAAGGG	0.463																																						uc003yhg.3																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(196-198)Ttt>Ctt		Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.							120	128	125					8																	95952365		2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95952365A>G	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.196T>C	8.37:g.95952365A>G	ENSP00000344215:p.Phe66Leu					TP53INP1_uc003yhh.3_Missense_Mutation_p.F66L	p.F66L	NM_033285	NP_150601	Q96A56	T53I1_HUMAN			2	580	-	Breast(36;8.75e-07)		66					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.196T>C	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132953	0.37630	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.41400	1.0;1.0;1.0	6.17	6.17	0.99709	.	0.111686	0.64402	D	0.000007	T	0.33760	0.0874	L	0.41236	1.265	0.42276	D	0.992077	B;B	0.24768	0.055;0.111	B;B	0.26416	0.051;0.069	T	0.16335	-1.0406	10	0.21014	T	0.42	-7.8045	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	66;66	Q96A56-2;Q96A56	.;T53I1_HUMAN	L	66	ENSP00000390063:F66L;ENSP00000344215:F66L;ENSP00000368052:F66L	ENSP00000344215:F66L	F	-	1	0	TP53INP1	96021541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.250000	0.65432	2.371000	0.80710	0.533000	0.62120	TTT		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			G	95952365	A	G	95952365	3	3	106	1	0	0	0	0	1	0	0	0	16385	72	3	4	560	4	TP53INP1	8	95952365	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		95952365	50411657	19	7272											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T																															aacaccaagttttcttacagINStttttttttcaccatcggaa																								rs570441854		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						uc003ypp.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e14-1		Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.			,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594					centrosome	Rab GTPase activator activity	g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						WDR67_uc011lig.2_Splice_Site_p.F629_splice|WDR67_uc011lih.2_Splice_Site_p.F519_splice|WDR67_uc003ypq.2_Splice_Site|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Splice_Site_p.F86_splice	p.F629_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		14	1975	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		629					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37	c.1885_splice	CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	T	124140521	-	T	124140520	8	5	106	1	0	1	1	0	0	0	1	0	17315	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-06-6698-01A-11D-1845-08	28188155	124140520	22223502	20	7273											
CYP11B1	1584	broad.mit.edu	37	chr8	143956491	143956491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccctgatgtctagccagCgctgggggttatagcgctca	7	9	13	12	2	2	1	1	1	1	0	2	1	2	1	3	2	4	3	3	2	3	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:143956491C>G	ENST00000292427.4	-	8	1312	c.1280G>C	c.(1279-1281)cGc>cCc	p.R427P	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R498P|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	427					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R427H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTCTAGCCAGCGCTGGGGGTT	0.647									Familial Hyperaldosteronism type I																													uc010mey.3																			1	Substitution - Missense(1)	p.R427H(1)|p.L497I(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	GRCh37	CM960470	CYP11B1	M		c.(1492-1494)cGc>cCc		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Mitotane(DB00648)						80	87	85					8																	143956491		2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956491C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1280G>C	8.37:g.143956491C>G	ENSP00000292427:p.Arg427Pro					CYP11B1_uc010mex.3_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R427P|CYP11B1_uc003yxj.3_Intron	p.R498P	NM_000497	NP_000488	P15538	C11B1_HUMAN			9	1500	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		427					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1493G>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.85	3.490903	0.64074	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;D;D	0.90563	-0.75;-2.69;-2.69	4.22	4.22	0.49857	.	0.000000	0.51477	D	0.000086	D	0.97046	0.9035	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98348	1.0542	10	0.87932	D	0	.	14.4165	0.67153	0.0:1.0:0.0:0.0	.	498;427;427	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	P	105;427;498	ENSP00000430144:R105P;ENSP00000292427:R427P;ENSP00000366903:R498P	ENSP00000292427:R427P	R	-	2	0	CYP11B1	143953493	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	4.592000	0.61027	2.059000	0.61396	0.561000	0.74099	CGC		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			G	143956491	C	G	143956491	3	3	106	1	0	0	0	0	1	0	0	0	4145	768	27	5	239	5	CYP11B1	8	143956491	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	19815971	143956491	2407531	21	7274											
C9orf64	84267	broad.mit.edu	37	chr9	86571236	86571236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaccgcggcctcgtcGgccgccctggggttcagctc	3	8	14	16	5	1	1	1	1	0	0	4	1	1	1	4	4	1	3	4	4	0	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:86571236G>A	ENST00000376344.3	-	1	396	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647																																						uc004anb.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(178-180)gcC>gcT		Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.							63	65	65					9																	86571236		1987	4159	6146	SO:0001819	synonymous_variant	84267							g.chr9:86571236G>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.180C>T	9.37:g.86571236G>A						C9orf64_uc004anc.3_Intron	p.A60A	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			0	428	-			60					B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	c.180C>T	CCDS6666.2																																																																																				0.647	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		A	86571236	G	A	86571236	2	1	106	1	0	0	0	0	0	0	0	1	2489	1103	39	2		2	C9orf64	9	86571236	Silent	SNP	G	TCGA-06-6698-01A-11D-1845-08		86571236	54642195	22	7275											
SEC16A	9919	broad.mit.edu	37	chr9	139369673	139369673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactgaagggcctcctcctCtcccattttgggaggattct	6	12	11	12	0	2	1	0	1	2	0	5	4	4	4	4	4	0	0	4	4	1	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:139369673C>G	ENST00000371706.3	-	1	1894	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	SEC16A_ENST00000313050.7_Missense_Mutation_p.E799Q|SEC16A_ENST00000431893.2_Missense_Mutation_p.E621Q|SEC16A_ENST00000290037.6_Missense_Mutation_p.E621Q			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	621					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCTCCTCCTCTCCCATTTTG	0.572																																						uc004chx.3																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2395-2397)Gag>Cag		Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.							30	32	32					9																	139369673		1965	4155	6120	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369673C>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1861G>C	9.37:g.139369673C>G	ENSP00000360771:p.Glu621Gln					SEC16A_uc004chv.4_Missense_Mutation_p.E426Q|SEC16A_uc004chw.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	p.E799Q	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	2	2704	-		Myeloproliferative disorder(178;0.0511)	621					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2395G>C		.	.	.	.	.	.	.	.	.	.	C	25.5	4.644442	0.87859	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.29655	1.56;1.56;1.56;1.57	5.37	5.37	0.77165	.	0.257144	0.38778	N	0.001579	T	0.52191	0.1719	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.61080	0.981;0.989;0.989;0.966	P;P;P;P	0.58266	0.69;0.836;0.836;0.598	T	0.52139	-0.8615	10	0.54805	T	0.06	-6.7281	18.4795	0.90806	0.0:1.0:0.0:0.0	.	799;621;621;426	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	Q	799;621;621;621;426	ENSP00000325827:E799Q;ENSP00000360771:E621Q;ENSP00000290037:E621Q;ENSP00000387583:E621Q	ENSP00000290037:E621Q	E	-	1	0	SEC16A	138489494	1.000000	0.71417	0.066000	0.19879	0.953000	0.61014	5.137000	0.64789	2.688000	0.91661	0.645000	0.84053	GAG		0.572	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		G	139369673	C	G	139369673	3	3	106	1	0	0	0	0	1	0	0	0	13986	922	32	5	4798	5	SEC16A	9	139369673	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	52798437	139369673	1843758	23	7276											
RBP3	5949	broad.mit.edu	37	chr10	48389610	48389610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagagtccaccagtgctTgccggatagcctcgtcctca	9	8	9	15	2	1	1	1	0	0	1	4	2	3	2	5	1	3	1	5	1	1	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr10:48389610T>A	ENST00000224600.4	-	1	1381	c.1268A>T	c.(1267-1269)cAa>cTa	p.Q423L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	423	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGTGCTTGCCGGATAGC	0.627																																						uc001jez.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1267-1269)cAa>cTa		Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	Vitamin A(DB00162)						57	51	53					10																	48389610		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389610T>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1268A>T	10.37:g.48389610T>A	ENSP00000224600:p.Gln423Leu						p.Q423L	NM_002900	NP_002891	P10745	RET3_HUMAN			0	1382	-			423			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1268A>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618317	0.28801	.	.	ENSG00000107618	ENST00000224600	T	0.65364	-0.15	5.29	-0.611	0.11601	Interphotoreceptor retinol-binding (1);	0.933522	0.09118	N	0.846124	T	0.56978	0.2022	M	0.76433	2.335	0.09310	N	1	B	0.30937	0.301	B	0.15870	0.014	T	0.48937	-0.8990	10	0.72032	D	0.01	-2.8764	9.1233	0.36799	0.0:0.4082:0.0:0.5918	.	423	P10745	RET3_HUMAN	L	423	ENSP00000224600:Q423L	ENSP00000224600:Q423L	Q	-	2	0	RBP3	48009616	0.002000	0.14202	0.011000	0.14972	0.895000	0.52256	0.339000	0.19875	-0.337000	0.08426	0.459000	0.35465	CAA		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		A	48389610	T	A	48389610	3	1	106	1	0	0	0	0	1	0	0	0	13157	1812	63	5	2491	5	RBP3	10	48389610	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08		48389610	87145137	24	7277											
OR51F1	256892	broad.mit.edu	37	chr11	4790374	4790374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatacaccaaggacaggctCagcatgtggatgtagaagaa	15	6	12	8	1	1	2	1	0	0	2	1	5	1	4	1	3	2	3	1	3	5	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:4790374C>T	ENST00000380383.1	-	1	794	c.795G>A	c.(793-795)ctG>ctA	p.L265L	OR51F1_ENST00000343430.3_Silent_p.L258L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGACAGGCTCAGCATGTGGA	0.522																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(772-774)ctG>ctA		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							99	88	92					11																	4790374		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4790374C>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.795G>A	11.37:g.4790374C>T							p.L258L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	774	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	258						Silent	SNP	ENST00000380383.1	37	c.774G>A																																																																																					0.522	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		T	4790374	C	T	4790374	2	4	106	1	0	0	0	0	0	0	0	1	11096	813	29	3		3	OR51F1	11	4790374	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		4790374	130216142	25	7278											
SLC22A25	387601	broad.mit.edu	37	chr11	62985164	62985164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaggtgcctacaatggCgagctggaggtaagaccatc	11	6	13	11	2	0	1	0	0	0	1	1	3	0	2	2	4	3	3	2	4	3	2	rs201370159	byFrequency	TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:62985164C>T	ENST00000306494.6	-	3	549	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A25_ENST00000403374.2_Missense_Mutation_p.A18T|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTACAATGGCGAGCTGGAGG	0.488													C|||	2	0.000399361	0	0.0014	5008	,	,		21268	0		0.001	False		,,,				2504	0					uc001nwr.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(550-552)Gcc>Acc		Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.							81	71	74					11																	62985164		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62985164C>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.550G>A	11.37:g.62985164C>T	ENSP00000307443:p.Ala184Thr					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	p.A184T	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			2	550	-			184						Missense_Mutation	SNP	ENST00000306494.6	37	c.550G>A	CCDS31592.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.36	2.809386	0.50421	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.74842	0.03;-0.88	3.19	1.17	0.20885	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.206047	0.39274	U	0.001402	T	0.76941	0.4058	M	0.71206	2.165	0.09310	N	1	P;D	0.55385	0.942;0.971	P;P	0.56474	0.799;0.799	T	0.66937	-0.5797	10	0.56958	D	0.05	.	4.482	0.11771	0.0:0.6305:0.2305:0.139	.	182;184	A4IF29;Q6T423	.;S22AP_HUMAN	T	184;18	ENSP00000307443:A184T;ENSP00000384208:A18T	ENSP00000307443:A184T	A	-	1	0	SLC22A25	62741740	0.969000	0.33509	0.002000	0.10522	0.005000	0.04900	3.463000	0.53050	-0.054000	0.13266	-0.399000	0.06403	GCC		0.488	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		T	62985164	C	T	62985164	3	4	106	1	0	0	0	0	1	0	0	0	14454	768	27	1	1121	1	SLC22A25	11	62985164	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	58194790	62985164	72021352	26	7279											
NLRX1	79671	broad.mit.edu	37	chr11	119052983	119052983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaacgtggcgtacaaCggtgctggtgacacagcggc	9	6	16	10	4	0	2	0	2	0	0	0	3	0	2	0	4	6	3	0	4	3	1	rs370591730		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:119052983C>T	ENST00000409109.1	+	9	3122	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	NLRX1_ENST00000409991.1_Silent_p.N845N|NLRX1_ENST00000525863.1_Silent_p.N845N|NLRX1_ENST00000409265.4_Silent_p.N845N|NLRX1_ENST00000292199.2_Silent_p.N845N	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	845	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGTACAACGGTGCTGGTG	0.677																																						uc001pvu.3																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2533-2535)aaC>aaT		Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.		C	,	0,4400		0,0,2200	60	63	62		2535,2535	-4.4	0.6	11		62	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous	NLRX1	NM_024618.2,NM_170722.1	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	845/976,845/922	119052983	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119052983C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2535C>T	11.37:g.119052983C>T						NLRX1_uc001pvv.3_Silent_p.N845N|NLRX1_uc001pvw.3_Silent_p.N845N|NLRX1_uc001pvx.3_Silent_p.N845N	p.N845N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	8	2750	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	845			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.2535C>T	CCDS8416.1																																																																																				0.677	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		T	119052983	C	T	119052983	2	4	106	1	0	0	0	0	0	0	0	1	10485	535	19	1		1	NLRX1	11	119052983	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	56067819	119052983	15953533	27	7280											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352059	120352059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccctgcagcccatgaCaggcatccctgctgtggaat	9	9	9	14	0	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:120352059C>T	ENST00000397843.2	+	39	4494	c.4328C>T	c.(4327-4329)aCa>aTa	p.T1443I	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1424I|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1340I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1443					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGCCCATGACAGGCATCCCT	0.512			T	MLL	AML																																	uc001pxl.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4327-4329)aCa>aTa		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.							82	82	82					11																	120352059		1995	4186	6181	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352059C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4328C>T	11.37:g.120352059C>T	ENSP00000380942:p.Thr1443Ile					ARHGEF12_uc009zat.3_Missense_Mutation_p.T1424I|ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	p.T1443I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	38	4663	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1443					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4328C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	4.622	0.115643	0.08831	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68624	-0.24;-0.34;-0.23	5.25	3.36	0.38483	.	0.910211	0.09108	N	0.847448	T	0.46964	0.1420	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.20577	0.03	T	0.35226	-0.9797	10	0.40728	T	0.16	0.8757	5.3985	0.16283	0.2193:0.5417:0.1681:0.0709	.	1443	Q9NZN5	ARHGC_HUMAN	I	1443;1424;1340	ENSP00000380942:T1443I;ENSP00000349056:T1424I;ENSP00000432984:T1340I	ENSP00000349056:T1424I	T	+	2	0	ARHGEF12	119857269	0.003000	0.15002	0.004000	0.12327	0.013000	0.08279	1.568000	0.36418	0.842000	0.35045	0.655000	0.94253	ACA		0.512	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		T	120352059	C	T	120352059	3	4	106	1	0	0	0	0	1	0	0	0	897	478	17	3	4482	3	ARHGEF12	11	120352059	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	1299076	120352059	14654457	28	7281											
C1QL4	338761	broad.mit.edu	37	chr12	49726939	49726939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagacctcgtcgcccacGtccaggtgcagaatgacgct	10	7	11	13	4	0	4	0	2	0	2	3	4	1	4	3	1	1	2	3	1	2	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr12:49726939G>A	ENST00000334221.3	-	2	1325	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	205	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CGTCGCCCACGTCCAGGTGCA	0.597																																						uc001rtz.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(613-615)gaC>gaT		Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.							158	111	127					12																	49726939		2203	4300	6503	SO:0001819	synonymous_variant	338761					collagen		g.chr12:49726939G>A		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.615C>T	12.37:g.49726939G>A							p.D205D	NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN			1	1326	-			205			C1q.			Silent	SNP	ENST00000334221.3	37	c.615C>T	CCDS31793.1																																																																																				0.597	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		A	49726939	G	A	49726939	2	1	106	1	0	0	0	0	0	0	0	1	1961	1136	40	1		1	C1QL4	12	49726939	Silent	SNP	G	TCGA-06-6698-01A-11D-1845-08		49726939	84124956	29	7282											
NHLRC3	387921	broad.mit.edu	37	chr13	39613426	39613426	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattggtttacataggtcaaGtaagtaaatagagatttaaa	17	13	9	2	0	1	1	1	0	0	1	1	3	1	1	0	2	1	3	0	2	9	9			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:39613426G>A	ENST00000379600.3	+	2	559		c.e2+1		NHLRC3_ENST00000470258.1_Splice_Site|PROSER1_ENST00000350125.3_5'Flank|NHLRC3_ENST00000379599.2_Splice_Site|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3							extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATAGGTCAAGTAAGTAAATA	0.388																																						uc001uxc.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11						c.e2+1		Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.							55	57	56					13																	39613426		2203	4300	6503	SO:0001630	splice_region_variant	387921					extracellular region		g.chr13:39613426G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.237+1G>A	13.37:g.39613426G>A						PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.3_Splice_Site	p.Q79_splice	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	2	559	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	79					B2RTZ2|B4DTL0|Q69YI9	Splice_Site	SNP	ENST00000379600.3	37	c.237_splice	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693600	0.48202	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9317	0.88999	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NHLRC3	38511426	1.000000	0.71417	0.985000	0.45067	0.568000	0.35870	6.644000	0.74338	2.457000	0.83068	0.462000	0.41574	.		0.388	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754	Intron	A	39613426	G	A	39613426	5	1	106	1	0	0	0	0	0	0	1	0	10407	1043	36	3	244	3	NHLRC3	13	39613426	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08		39613426	75556452	30	7283											
RB1	5925	broad.mit.edu	37	chr13	48916734	48916734	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttattttttgttcccaGggaggttatattcaaaagaa	12	17	7	5	0	2	1	1	0	1	1	3	2	3	2	1	2	0	2	1	2	6	9			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48916734G>A	ENST00000267163.4	+	3	402		c.e3-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTGTTCCCAGGGAGGTTATA	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|lung(2)|breast(2)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS075220	RB1	S		c.e3-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						60	69	66					13																	48916734		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916734G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.265-1G>A	13.37:g.48916734G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.G89_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	431	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	89					A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.265_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771268	0.69992	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0115	0.71552	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47814735	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	2.338000	0.43957	2.667000	0.90743	0.603000	0.83216	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	A	48916734	G	A	48916734	5	1	106	1	0	0	0	0	0	0	1	0	13098	1014	35	3	274	3	RB1	13	48916734	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08	9303308	48916734	66253144	31	7284											
RB1	5925	broad.mit.edu	37	chr13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttttctttcaaggttgaaaaTctttctaaacgatacgaaga																										TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(946-951)aatcttfs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941638_48941641delTCTT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.948_951delTCTT	13.37:g.48941638_48941641delTCTT	ENSP00000267163:p.Asn316fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.N17fs	p.N316fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1114_1117	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	316					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.948_951delTCTT	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48941641	TCTT	-	48941638	7	5	106	1	0	1	0	1	0	0	0	0	13098	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-06-6698-01A-11D-1845-08	24904	48941638	66228240	32	7285											
MTA1	9112	broad.mit.edu	37	chr14	105936268	105936268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccccagtcaagcggCggcggatgaactggatcgac	8	5	13	15	4	1	1	1	1	0	0	2	4	1	3	3	4	3	0	3	4	2	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr14:105936268C>T	ENST00000331320.7	+	20	2150	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	MTA1_ENST00000406191.1_Missense_Mutation_p.R634W|MTA1_ENST00000405646.1_Missense_Mutation_p.R629W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000435036.2_Missense_Mutation_p.R186W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	646					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGTCAAGCGGCGGCGGATGAA	0.677																																						uc001yqx.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(1936-1938)Cgg>Tgg		Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.							23	26	25					14																	105936268		2193	4295	6488	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936268C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1936C>T	14.37:g.105936268C>T	ENSP00000333633:p.Arg646Trp					MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Missense_Mutation_p.R634W|MTA1_uc001yrb.3_Missense_Mutation_p.R411W	p.R646W	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	19	2123	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	646					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.1936C>T	CCDS32169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.916442|3.916442	0.73098|0.73098	.|.	.|.	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.54479	.|1.33;1.3;1.33;1.33;0.69;0.57	5.07|5.07	2.99|2.99	0.34606|0.34606	.|.	.|0.061457	.|0.64402	.|D	.|0.000017	T|T	0.61689|0.61689	0.2367|0.2367	L|L	0.43152|0.43152	1.355|1.355	0.44345|0.44345	D|D	0.997231|0.997231	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.965;0.993	T|T	0.63717|0.63717	-0.6574|-0.6574	5|10	.|0.87932	.|D	.|0	-27.2823|-27.2823	10.6142|10.6142	0.45441|0.45441	0.5821:0.4179:0.0:0.0|0.5821:0.4179:0.0:0.0	.|.	.|442;646	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	V|W	72|559;646;634;629;442;186;58	.|ENSP00000333633:R646W;ENSP00000385702:R634W;ENSP00000384180:R629W;ENSP00000394106:R442W;ENSP00000389425:R186W;ENSP00000395371:R58W	.|ENSP00000333633:R646W	A|R	+|+	2|1	0|2	MTA1|MTA1	105007313|105007313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.479000|1.479000	0.35453|0.35453	1.096000|1.096000	0.41439|0.41439	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.677	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			T	105936268	C	T	105936268	3	4	106	1	0	0	0	0	1	0	0	0	9908	759	27	1	2014	1	MTA1	14	105936268	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		105936268	1413272	33	7286											
TSC2	7249	broad.mit.edu	37	chr16	2134716	2134716	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaggcatcaaccccaGgtgggcctcttgcttccggg	6	8	13	14	1	2	0	1	0	1	0	3	0	3	0	5	4	3	2	5	4	1	2	rs397514971|rs137854099|rs137854879		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:2134716G>A	ENST00000219476.3	+	34	5123	c.4493G>A	c.(4492-4494)aGt>aAt	p.S1498N	TSC2_ENST00000568454.1_Splice_Site_p.S1442N|TSC2_ENST00000353929.4_Splice_Site_p.S1455N|TSC2_ENST00000382538.6_Splice_Site_p.S1383N|TSC2_ENST00000401874.2_Splice_Site_p.S1431N|TSC2_ENST00000439673.2_Splice_Site_p.S1395N|TSC2_ENST00000350773.4_Splice_Site_p.S1475N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1498			S -> N (in TSC2).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAACCCCAGGTGGGCCTCT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													uc002con.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM991216	TSC2	M	rs137854099	c.e34+1		Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.							33	40	38					16																	2134716		2195	4290	6485	SO:0001630	splice_region_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134716G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4493+1G>A	16.37:g.2134716G>A						TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Splice_Site_p.S1475_splice|TSC2_uc002coo.3_Splice_Site_p.S1431_splice|TSC2_uc010uvv.2_Splice_Site_p.S1395_splice|TSC2_uc010uvw.2_Splice_Site_p.S1383_splice|TSC2_uc002cop.3_Splice_Site_p.S1254_splice|TSC2_uc002coq.3_Splice_Site_p.S273_splice	p.S1498_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN			34	4599	+		Hepatocellular(780;0.0202)	1498		S -> N (in TSC2).			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4493_splice	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190962	0.78789	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.17	5.17	0.71159	.	0.049341	0.85682	D	0.000000	D	0.96417	0.8831	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D	0.65815	0.983;0.994;0.99;0.975;0.99;0.99;0.995	D;D;D;P;D;D;D	0.76071	0.927;0.983;0.987;0.821;0.983;0.983;0.962	D	0.96809	0.9595	10	0.72032	D	0.01	-24.9677	18.6597	0.91468	0.0:0.0:1.0:0.0	.	1383;1395;1475;273;1454;1431;1498	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1498;1432;1455;1395;1383;1475	ENSP00000219476:S1498N;ENSP00000248099:S1455N;ENSP00000399232:S1395N;ENSP00000371978:S1383N;ENSP00000344383:S1475N	ENSP00000219476:S1498N	S	+	2	0	TSC2	2074717	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.075000	0.94004	2.424000	0.82194	0.591000	0.81541	AGT		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Missense_Mutation	A	2134716	G	A	2134716	5	1	106	1	0	0	0	0	0	0	1	0	16603	1014	35	3	4623	3	TSC2	16	2134716	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08		2134716	88220037	34	7287											
GRIN2A	2903	broad.mit.edu	37	chr16	9862916	9862916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtggcagatcccagtgAgccacagggtctccagctcc	7	8	12	14	1	1	2	0	1	1	1	4	2	3	2	4	2	2	3	4	2	0	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:9862916A>T	ENST00000396573.2	-	13	2696	c.2387T>A	c.(2386-2388)cTc>cAc	p.L796H	GRIN2A_ENST00000404927.2_Missense_Mutation_p.L796H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L796H|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L796H|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L639H|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L796H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	796					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATCCCAGTGAGCCACAGGGT	0.567																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2386-2388)cTc>cAc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						112	92	99					16																	9862916		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862916A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2387T>A	16.37:g.9862916A>T	ENSP00000379818:p.Leu796His					GRIN2A_uc002czo.4_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.2_Missense_Mutation_p.L639H|GRIN2A_uc002czr.4_Missense_Mutation_p.L796H	p.L796H	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			12	2697	-			796					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2387T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321403	0.81580	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.61297	-0.7091	9	.	.	.	.	13.2061	0.59798	1.0:0.0:0.0:0.0	.	639;796;796	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	H	796;796;639;796;796	ENSP00000379818:L796H;ENSP00000385872:L796H;ENSP00000441572:L639H;ENSP00000332549:L796H;ENSP00000379820:L796H	.	L	-	2	0	GRIN2A	9770417	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.176000	0.94839	1.757000	0.51966	0.460000	0.39030	CTC		0.567	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9862916	A	T	9862916	3	4	106	1	0	0	0	0	1	0	0	0	6779	304	11	5	2015	5	GRIN2A	16	9862916	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	7728200	9862916	80491837	35	7288											
IL4R	3566	broad.mit.edu	37	chr16	27373977	27373977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcatgccttcttccacCttcgggaagtacgagtgctc	7	11	11	12	2	2	0	1	0	1	0	5	3	3	2	3	2	3	2	3	2	2	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:27373977C>G	ENST00000395762.2	+	11	1563	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	IL4R_ENST00000170630.2_Missense_Mutation_p.P435R|IL4R_ENST00000380922.3_Missense_Mutation_p.P420R|IL4R_ENST00000543915.2_Missense_Mutation_p.P435R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	435					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCTTCCACCTTCGGGAAGT	0.612																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1303-1305)cCt>cGt		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							73	72	72					16																	27373977		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373977C>G	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1304C>G	16.37:g.27373977C>G	ENSP00000379111:p.Pro435Arg					IL4R_uc002dop.4_Missense_Mutation_p.P420R|IL4R_uc010bxy.3_Missense_Mutation_p.P435R|IL4R_uc002doo.3_Missense_Mutation_p.P275R	p.P435R	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	1546	+			435					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1304C>G	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977295	0.53720	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.31	1.78	0.24846	.	32.087400	0.00166	N	0.000000	T	0.25680	0.0625	M	0.66939	2.045	0.09310	N	1	D;D;D	0.60575	0.988;0.976;0.976	P;P;P	0.56398	0.797;0.601;0.601	T	0.06954	-1.0798	10	0.72032	D	0.01	-10.8293	5.3315	0.15936	0.1601:0.6452:0.0:0.1947	.	420;435;435	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	R	435;435;420;435	ENSP00000379111:P435R;ENSP00000441667:P435R;ENSP00000370309:P420R;ENSP00000170630:P435R	ENSP00000170630:P435R	P	+	2	0	IL4R	27281478	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	0.217000	0.17603	1.070000	0.40811	0.655000	0.94253	CCT		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			G	27373977	C	G	27373977	3	3	106	1	0	0	0	0	1	0	0	0	7698	681	24	5	1356	5	IL4R	16	27373977	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	17511061	27373977	62980776	36	7289											
CDH8	1006	broad.mit.edu	37	chr16	61689535	61689535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgctcagtggaggatttCcactatcactgattatgatt	9	15	9	8	0	2	2	2	2	0	0	3	4	3	4	1	2	2	2	1	2	2	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:61689535C>A	ENST00000577390.1	-	11	2699	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V	CDH8_ENST00000577730.1_Missense_Mutation_p.G582V|CDH8_ENST00000299345.6_Missense_Mutation_p.G582V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	582	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGAGGATTTCCACTATCACT	0.438																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1744-1746)gGa>gTa		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							150	133	139					16																	61689535		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61689535C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1745G>T	16.37:g.61689535C>A	ENSP00000462701:p.Gly582Val						p.G582V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	10	2700	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	582			Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1745G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114956	0.77210	.	.	ENSG00000150394	ENST00000299345	T	0.65178	-0.14	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	H	0.99464	4.58	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	D	0.93610	0.6938	10	0.87932	D	0	.	18.4201	0.90587	0.0:1.0:0.0:0.0	.	582	P55286	CADH8_HUMAN	V	582	ENSP00000299345:G582V	ENSP00000299345:G582V	G	-	2	0	CDH8	60247036	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.440000	0.80464	2.599000	0.87857	0.561000	0.74099	GGA		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61689535	C	A	61689535	3	1	106	1	0	0	0	0	1	0	0	0	3116	855	30	5	662	5	CDH8	16	61689535	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	34315558	61689535	28665218	37	7290											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	106	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		7578406	73616804	38	7291											
KCNJ12	3768	broad.mit.edu	37	chr17	21318689	21318689	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccaacccctacagcaTcgtgtcatcggaggaggacg	9	5	13	14	4	1	0	1	0	0	0	3	3	1	3	4	4	3	1	4	4	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:21318689T>G	ENST00000583088.1	+	3	930	c.35T>G	c.(34-36)aTc>aGc	p.I12S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.I12S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	12					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCTACAGCATCGTGTCATCG	0.711										Prostate(3;0.18)																												uc021tss.1																			0											c.(34-36)aTc>aGc		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.							52	49	50					17																	21318689		2202	4299	6501	SO:0001583	missense	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21318689T>G	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.35T>G	17.37:g.21318689T>G	ENSP00000463778:p.Ile12Ser					KCNJ18_uc002gyv.1_Missense_Mutation_p.I12S|KCNJ18_uc021tst.1_Missense_Mutation_p.I12S	p.I12S	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	405	+			12					O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.35T>G	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116409	0.77323	.	.	ENSG00000184185	ENST00000331718	T	0.44482	0.92	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.64757	-0.6332	10	0.87932	D	0	.	14.9643	0.71179	0.0:0.0:0.0:1.0	.	12	Q14500	IRK12_HUMAN	S	12	ENSP00000328150:I12S	ENSP00000328150:I12S	I	+	2	0	KCNJ12	21259282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.148000	0.71788	2.027000	0.59764	0.482000	0.46254	ATC		0.711	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		G	21318689	T	G	21318689	3	3	106	1	0	0	0	0	1	0	0	0	8046	1435	50	5	37	5	KCNJ12	17	21318689	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08	13740283	21318689	59876521	39	7292											
NF1	4763	broad.mit.edu	37	chr17	29661898	29661898	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggaatacatgactccatGgctgtcaaatctagttcgtt	10	15	8	8	1	2	1	1	1	1	0	4	2	3	2	1	2	1	3	1	2	4	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:29661898G>A	ENST00000358273.4	+	40	6238	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1931*|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1952			W -> R (in NF1; dbSNP:rs199474791). {ECO:0000269|PubMed:9101300}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.M1949fs*2(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGACTCCATGGCTGTCAAAT	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.M1949fs*2(1)|p.P1951fs*6(1)|p.P1951L(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM062912	NF1	M		c.(5854-5856)tGg>tAg		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							125	116	119					17																	29661898		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661898G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5855G>A	17.37:g.29661898G>A	ENSP00000351015:p.Trp1952*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.W1931*|NF1_uc010cso.3_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.W1952*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	6238	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1952		W -> R (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5855G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	49	14.994979	0.99818	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4882	0.95039	0.0:0.0:1.0:0.0	.	.	.	.	X	1952;1931;1597	.	ENSP00000348498:W1931X	W	+	2	0	NF1	26686024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.261000	0.95576	2.620000	0.88729	0.557000	0.71058	TGG		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29661898	G	A	29661898	4	1	106	1	0	0	0	0	0	1	0	0	10356	1357	47	3	6074	3	NF1	17	29661898	Nonsense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	8343209	29661898	51533312	40	7293											
EFTUD2	9343	broad.mit.edu	37	chr17	42942379	42942379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctccttcgtcaggtGgatgccaagctcgtctaggg	6	10	12	13	2	2	0	1	0	1	0	6	1	4	1	3	3	3	2	3	3	2	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:42942379G>A	ENST00000426333.2	-	14	1501	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H367Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H402Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H392Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	402	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCGTCAGGTGGATGCCAAGC	0.557											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1204-1206)Cac>Tac		Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.							166	135	146					17																	42942379		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42942379G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1204C>T	17.37:g.42942379G>A	ENSP00000392094:p.His402Tyr		OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	912	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	p.H402Y	NM_004247	NP_001136077	Q15029	U5S1_HUMAN			13	1465	-		Prostate(33;0.109)	402					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1204C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409567	0.25378	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.75477	-0.94;-0.94	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	N	0.04355	-0.22	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.51236	-0.8731	10	0.26408	T	0.33	-22.93	20.3931	0.98965	0.0:0.0:1.0:0.0	.	392;402	B4DMC0;Q15029	.;U5S1_HUMAN	Y	402;392;367	ENSP00000392094:H402Y;ENSP00000385873:H367Y	ENSP00000262414:H392Y	H	-	1	0	EFTUD2	40297905	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	CAC		0.557	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42942379	G	A	42942379	3	1	106	1	0	0	0	0	1	0	0	0	4961	1348	47	3	1774	3	EFTUD2	17	42942379	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	13280481	42942379	38252831	41	7294											
LPO	4025	broad.mit.edu	37	chr17	56344837	56344837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgggacccctgacaacatCgacatctggataggggccat	11	7	11	12	2	1	1	0	1	1	0	2	4	1	3	3	4	2	0	3	4	3	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:56344837C>T	ENST00000262290.4	+	12	2137	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	LPO_ENST00000421678.2_Silent_p.I524I|LPO_ENST00000582328.1_Silent_p.I524I|LPO_ENST00000543544.1_Silent_p.I548I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	607					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTGACAACATCGACATCTGGA	0.587																																						uc002ivt.3																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1819-1821)atC>atT		Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.							78	76	77					17																	56344837		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56344837C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1821C>T	17.37:g.56344837C>T						LPO_uc010wns.2_Silent_p.I548I|LPO_uc010dcp.3_Silent_p.I524I|LPO_uc010dcq.3_Silent_p.I278I|LPO_uc010dcr.3_Silent_p.I170I	p.I607I	NM_006151	NP_006142	P22079	PERL_HUMAN			11	2137	+			607					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.1821C>T	CCDS32689.1																																																																																				0.587	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			T	56344837	C	T	56344837	2	4	106	1	0	0	0	0	0	0	0	1	8922	874	31	2		2	LPO	17	56344837	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	13402458	56344837	24850373	42	7295											
ALPK2	115701	broad.mit.edu	37	chr18	56203541	56203541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgtgagccaatgctgctAtttcagagggggccaattca	10	10	12	9	0	2	2	2	1	0	1	2	3	2	2	2	2	3	2	2	2	3	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:56203541A>G	ENST00000361673.3	-	5	4091	c.3878T>C	c.(3877-3879)aTa>aCa	p.I1293T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1293						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAATGCTGCTATTTCAGAGGG	0.507																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3877-3879)aTa>aCa		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							121	113	116					18																	56203541		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203541A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3878T>C	18.37:g.56203541A>G	ENSP00000354991:p.Ile1293Thr					ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	p.I1293T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	4092	-			1293					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3878T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	a	5.021	0.189478	0.09547	.	.	ENSG00000198796	ENST00000361673	T	0.44083	0.93	4.73	-9.47	0.00594	.	632.543000	0.00166	N	0.000002	T	0.12135	0.0295	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30504	-0.9976	10	0.44086	T	0.13	4.6001	2.1302	0.03749	0.4984:0.1796:0.1417:0.1802	.	1288;1293	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	1293	ENSP00000354991:I1293T	ENSP00000354991:I1293T	I	-	2	0	ALPK2	54354521	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.088000	0.00610	-2.633000	0.00433	-0.658000	0.03865	ATA		0.507	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		G	56203541	A	G	56203541	3	3	106	1	0	0	0	0	1	0	0	0	545	449	16	4	2670	4	ALPK2	18	56203541	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		56203541	21873707	43	7296											
SERPINB7	8710	broad.mit.edu	37	chr18	61471670	61471670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattgcttcggggggtcGtctgtatatatcaaggatga	8	13	15	5	2	2	1	1	1	1	0	4	3	2	3	0	5	1	2	0	5	4	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:61471670G>A	ENST00000398019.2	+	8	1269	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SERPINB7_ENST00000546027.1_Missense_Mutation_p.R315H|SERPINB7_ENST00000540675.1_Missense_Mutation_p.R298H|SERPINB7_ENST00000336429.2_Missense_Mutation_p.R315H	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	315					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R315H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCGGGGGGTCGTCTGTATATA	0.428																																						uc002ljl.3																			1	Substitution - Missense(1)	p.R315H(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(943-945)cGt>cAt		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.							46	48	47					18																	61471670		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471670G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.944G>A	18.37:g.61471670G>A	ENSP00000381101:p.Arg315His					SERPINB7_uc002ljm.3_Missense_Mutation_p.R315H|SERPINB7_uc010xet.2_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.3_Missense_Mutation_p.R315H	p.R315H	NM_001040147	NP_003775	O75635	SPB7_HUMAN			7	1040	+		Esophageal squamous(42;0.129)	315					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.944G>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582352	0.46006	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	6.0	6.0	0.97389	Serpin domain (3);	0.083254	0.52532	D	0.000065	T	0.29355	0.0731	M	0.64676	1.99	0.38525	D	0.948829	D;D	0.89917	1.0;1.0	D;D	0.75484	0.966;0.986	T	0.01036	-1.1473	10	0.59425	D	0.04	.	12.6678	0.56851	0.0825:0.0:0.9175:0.0	.	298;315	F5GZC0;O75635	.;SPB7_HUMAN	H	315;315;298;315	ENSP00000337212:R315H;ENSP00000381101:R315H;ENSP00000444572:R298H;ENSP00000444861:R315H	ENSP00000337212:R315H	R	+	2	0	SERPINB7	59622650	0.005000	0.15991	0.878000	0.34440	0.439000	0.31926	1.330000	0.33781	2.846000	0.97976	0.650000	0.86243	CGT		0.428	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		A	61471670	G	A	61471670	3	1	106	1	0	0	0	0	1	0	0	0	14106	1145	40	1	970	1	SERPINB7	18	61471670	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5268129	61471670	16605578	44	7297											
KCNG2	26251	broad.mit.edu	37	chr18	77624159	77624159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccggcggcgcctgcgCgacgtggtggacaacccgca	5	3	17	16	9	0	0	0	0	0	0	0	2	0	1	3	5	2	1	3	5	1	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:77624159C>T	ENST00000316249.3	+	1	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	164					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796																																						uc010xfl.2																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(490-492)cgC>cgT		Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.							10	10	10					18																	77624159		1930	3851	5781	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624159C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.492C>T	18.37:g.77624159C>T							p.R164R	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	0	492	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	164						Silent	SNP	ENST00000316249.3	37	c.492C>T	CCDS12019.1																																																																																				0.796	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		T	77624159	C	T	77624159	2	4	106	1	0	0	0	0	0	0	0	1	8028	755	27	1		1	KCNG2	18	77624159	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	16152489	77624159	453089	45	7298											
CD209	30835	broad.mit.edu	37	chr19	7812212	7812212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctaagctcttgtatcctCgagtctgtcggaatccaagg	8	12	10	11	2	2	0	0	0	2	0	6	2	4	1	2	2	2	3	2	2	4	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:7812212C>T	ENST00000315599.7	-	2	108	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	CD209_ENST00000394173.4_Missense_Mutation_p.R29Q|CD209_ENST00000394161.5_Missense_Mutation_p.R29Q|CD209_ENST00000601951.1_Missense_Mutation_p.R29Q|CD209_ENST00000602261.1_Missense_Mutation_p.R29Q|CD209_ENST00000354397.6_Missense_Mutation_p.R29Q|CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R29Q|CD209_ENST00000593660.1_Missense_Mutation_p.R29Q|CD209_ENST00000315591.8_Missense_Mutation_p.R29Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	29					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGTATCCTCGAGTCTGTCG	0.577																																						uc002mht.2																			0		p.R29R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(85-87)cGa>cAa		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.							338	348	345					19																	7812212		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812212C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.86G>A	19.37:g.7812212C>T	ENSP00000315477:p.Arg29Gln					CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	p.R29Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			1	153	-			29					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.86G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361159	0.41801	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000394173;ENST00000394161;ENST00000538585	T;T;T;T;T	0.08720	4.14;4.52;3.53;4.05;3.06	3.41	-6.81	0.01704	.	.	.	.	.	T	0.08714	0.0216	L	0.53249	1.67	0.09310	N	1	B;B;P;D;P;D;B;D;B;D	0.62365	0.135;0.079;0.872;0.991;0.813;0.966;0.061;0.975;0.079;0.959	B;B;B;P;B;P;B;P;B;B	0.48677	0.022;0.007;0.315;0.535;0.176;0.586;0.022;0.56;0.011;0.382	T	0.01988	-1.1234	9	0.41790	T	0.15	.	2.9443	0.05841	0.1295:0.4799:0.1994:0.1912	.	29;29;29;29;29;29;29;29;29;29	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-12;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	29	ENSP00000315477:R29Q;ENSP00000346373:R29Q;ENSP00000315407:R29Q;ENSP00000377728:R29Q;ENSP00000377716:R29Q	ENSP00000315407:R29Q	R	-	2	0	CD209	7718212	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.649000	0.05384	-1.318000	0.02289	0.563000	0.77884	CGA		0.577	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7812212	C	T	7812212	3	4	106	1	0	0	0	0	1	0	0	0	2984	884	31	2	1152	2	CD209	19	7812212	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		7812212	51316771	46	7299											
IGFL1	374918	broad.mit.edu	37	chr19	46733408	46733408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcctctgctcacaCggagccccaggtgagcccag	7	6	11	17	1	2	1	1	1	1	0	4	2	4	2	5	3	3	2	5	3	0	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:46733408C>T	ENST00000437936.1	+	2	92	c.69C>T	c.(67-69)caC>caT	p.H23H	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	23						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TCTGCTCACACGGAGCCCCAG	0.597																																						uc002pee.3																			0				lung(5)	5						c.(67-69)caC>caT		Homo sapiens IGF-like family member 1 (IGFL1), mRNA.							88	85	86					19																	46733408		1902	4126	6028	SO:0001819	synonymous_variant	374918					extracellular space	protein binding	g.chr19:46733408C>T	AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.69C>T	19.37:g.46733408C>T							p.H23H	NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)	1	92	+		Ovarian(192;0.0731)|all_neural(266;0.196)	23						Silent	SNP	ENST00000437936.1	37	c.69C>T	CCDS46123.1																																																																																				0.597	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461724.1	NM_198541		T	46733408	C	T	46733408	2	4	106	1	0	0	0	0	0	0	0	1	7586	535	19	1		1	IGFL1	19	46733408	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	38921196	46733408	12395575	47	7300											
KLK6	5653	broad.mit.edu	37	chr19	51462532	51462532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccccatgacacaaggcctCggaggtggtctccacatacc	10	7	9	15	1	1	1	0	1	1	0	3	2	1	2	5	4	2	0	5	4	3	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:51462532C>T	ENST00000376851.3	-	6	1062	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	KLK6_ENST00000594641.1_Missense_Mutation_p.R208Q|KLK6_ENST00000376853.4_Missense_Mutation_p.E80K|KLK6_ENST00000310157.2_Missense_Mutation_p.R208Q|KLK6_ENST00000456750.2_Missense_Mutation_p.R101Q|CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000391808.1_Missense_Mutation_p.R101Q|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACAAGGCCTCGGAGGTGGTC	0.512																																						uc002puh.3																			0		p.P217H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(649-651)cGa>cAa		Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.							215	197	203					19																	51462532		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462532C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.623G>A	19.37:g.51462532C>T	ENSP00000366047:p.Arg208Gln					KLK6_uc010eoj.3_Missense_Mutation_p.E80K|KLK6_uc002pui.3_Missense_Mutation_p.R208Q|KLK6_uc002puj.3_Missense_Mutation_p.R101Q|KLK6_uc010ycn.2_Missense_Mutation_p.R101Q|KLK6_uc002pul.3_Missense_Mutation_p.R208Q|KLK6_uc002pum.3_Missense_Mutation_p.R101Q	p.R217Q	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	715	-		all_neural(266;0.026)	208			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.650G>A	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.013|0.013	-1.630975|-1.630975	0.00813|0.00813	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000376853|ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D|D;D;D;D	0.82344|0.87650	-1.6|-2.28;-2.28;-2.28;-2.28	3.89|3.89	1.68|1.68	0.24146|0.24146	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	N|N	0.01454|0.01454	-0.855|-0.855	0.80722|0.80722	D|D	1|1	B|B;B	0.20988|0.26744	0.05|0.158;0.026	B|B;B	0.14578|0.13407	0.011|0.009;0.009	T|T	0.57900|0.57900	-0.7731|-0.7731	9|9	0.10902|0.02654	T|T	0.67|1	.|.	6.2344|6.2344	0.20754|0.20754	0.0:0.6734:0.0:0.3266|0.0:0.6734:0.0:0.3266	.|.	80|208;101	E7ETY0|Q92876;Q92876-2	.|KLK6_HUMAN;.	K|Q	80|208;208;101;101	ENSP00000366049:E80K|ENSP00000309148:R208Q;ENSP00000366047:R208Q;ENSP00000375684:R101Q;ENSP00000409241:R101Q	ENSP00000366049:E80K|ENSP00000309148:R208Q	E|R	-|-	1|2	0|0	KLK6|KLK6	56154344|56154344	0.956000|0.956000	0.32656|0.32656	0.041000|0.041000	0.18516|0.18516	0.007000|0.007000	0.05969|0.05969	2.028000|2.028000	0.41088|0.41088	0.401000|0.401000	0.25424|0.25424	-0.150000|-0.150000	0.13652|0.13652	GAG|CGA		0.512	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		T	51462532	C	T	51462532	3	4	106	1	0	0	0	0	1	0	0	0	8408	884	31	2	115	2	KLK6	19	51462532	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	4729124	51462532	7666451	48	7301											
TSHZ2	128553	broad.mit.edu	37	chr20	51870294	51870294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggacatcaagagtgtctgCggcagagatgcctcagacaa	12	7	12	10	2	3	3	2	0	1	3	4	5	3	4	1	2	2	1	1	2	2	0	rs371445975		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_ENST00000603338.2_Silent_p.C96C|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512																																						uc002xwo.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(295-297)tgC>tgT		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	92	79	83		288,297	-1.2	0.8	20		83	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1032,99/1035	51870294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870294C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.297C>T	20.37:g.51870294C>T						TSHZ2_uc021wex.1_Silent_p.C96C	p.C99C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1184	+			99					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.297C>T	CCDS33490.1																																																																																				0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51870294	C	T	51870294	2	4	106	1	0	0	0	0	0	0	0	1	16621	776	27	1		1	TSHZ2	20	51870294	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		51870294	11155226	49	7302											
RRP1B	23076	broad.mit.edu	37	chr21	45092195	45092195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcctctgcaggaagagCtcgccaacaccattgcacag	10	5	9	17	2	1	1	0	0	1	1	2	2	1	2	5	1	4	3	5	1	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr21:45092195C>A	ENST00000340648.4	+	3	337	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	74					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGGAAGAGCTCGCCAACAC	0.552																																						uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(220-222)Ctc>Atc		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							178	147	157					21																	45092195		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45092195C>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.220C>A	21.37:g.45092195C>A	ENSP00000339145:p.Leu74Ile						p.L74I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	2	334	+			74					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.220C>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140089	0.56936	.	.	ENSG00000160208	ENST00000340648	T	0.57752	0.38	5.82	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.92367	3.3	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.80708	-0.1262	10	0.87932	D	0	-17.4916	10.6648	0.45723	0.0:0.9005:0.0:0.0995	.	74	Q14684	RRP1B_HUMAN	I	74	ENSP00000339145:L74I	ENSP00000339145:L74I	L	+	1	0	RRP1B	43916623	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	1.532000	0.36029	2.756000	0.94617	0.563000	0.77884	CTC		0.552	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		A	45092195	C	A	45092195	3	1	106	1	0	0	0	0	1	0	0	0	13688	797	28	5	230	5	RRP1B	21	45092195	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		45092195	3037700	50	7303											
MAGT1	84061	broad.mit.edu	37	chrX	77109426	77109426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacaatgtgtgtttcagcTacaaactgggcttgactgct	11	12	10	8	0	1	2	1	1	0	1	1	2	1	2	0	1	5	4	0	1	4	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:77109426T>C	ENST00000358075.6	-	7	980	c.894A>G	c.(892-894)gtA>gtG	p.V298V		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	266					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTTTCAGCTACAAACTGGG	0.348																																						uc004fof.3																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(892-894)gtA>gtG		Homo sapiens magnesium transporter 1 (MAGT1), mRNA.							136	121	126					X																	77109426		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77109426T>C		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.894A>G	X.37:g.77109426T>C						MAGT1_uc004fog.4_Intron	p.V298V	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			6	956	-			266					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000358075.6	37	c.894A>G	CCDS14436.2																																																																																				0.348	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		C	77109426	T	C	77109426	2	2	106	1	0	0	0	0	0	0	0	1	9196	1509	53	4		4	MAGT1	23	77109426	Silent	SNP	T	TCGA-06-6698-01A-11D-1845-08		77109426	78161134	51	7304											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-																															aagccgtgtacgttgaacccGctgctgctgctgctgctgct																										TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						uc004fev.4																			2	Substitution - coding silent(2)	p.A229A(2)|p.A235D(1)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)gctdel		Homo sapiens PAS domain containing 1 (PASD1), mRNA.																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			8	1017_1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		-	150817144	GCT	-	150817142	7	5	106	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-06-6698-01A-11D-1845-08	73707716	150817142	4453418	52	7305											
CDCP2	200008	broad.mit.edu	37	chr1	54605749	54605749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctggagaagttgcccCgcatggccatgtatacctcc	7	9	13	12	1	0	1	0	0	0	1	1	2	1	1	5	3	2	4	5	3	3	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:54605749C>A	ENST00000371330.1	-	4	1641	c.794G>T	c.(793-795)cGg>cTg	p.R265L	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	265	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAAGTTGCCCCGCATGGCCAT	0.602																																						uc001cwv.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(793-795)cGg>cTg		Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.							45	36	39					1																	54605749		2186	4272	6458	SO:0001583	missense	200008					extracellular region		g.chr1:54605749C>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.794G>T	1.37:g.54605749C>A	ENSP00000360381:p.Arg265Leu						p.R265L	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1642	-			265			CUB 3.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.794G>T	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219244	0.39201	.	.	ENSG00000157211	ENST00000371330	T	0.17854	2.25	5.83	2.62	0.31277	CUB (5);	0.305075	0.30118	N	0.010379	T	0.13200	0.0320	L	0.28344	0.845	0.33579	D	0.599656	P	0.50272	0.933	P	0.49192	0.602	T	0.21484	-1.0244	10	0.22706	T	0.39	-19.5903	5.2659	0.15599	0.0:0.4581:0.0:0.5419	.	265	Q5VXM1	CDCP2_HUMAN	L	265	ENSP00000360381:R265L	ENSP00000360381:R265L	R	-	2	0	CDCP2	54378337	0.998000	0.40836	0.933000	0.37362	0.522000	0.34438	1.948000	0.40303	0.820000	0.34516	0.555000	0.69702	CGG		0.602	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		A	54605749	C	A	54605749	3	1	107	1	0	0	0	0	1	0	0	0	3094	652	23	5	559	5	CDCP2	1	54605749	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		54605749	194644872	1	7306											
GPR137B	7107	broad.mit.edu	37	chr1	236343286	236343286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattttctcagaacaagagCgtccattcctttgattatga	11	15	6	9	1	2	4	2	2	1	2	5	4	4	4	2	0	2	0	2	0	3	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:236343286C>T	ENST00000366592.3	+	4	886	c.795C>T	c.(793-795)agC>agT	p.S265S	GPR137B_ENST00000366591.4_Silent_p.S174S	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	265						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGAACAAGAGCGTCCATTCCT	0.527																																						uc001hxq.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(793-795)agC>agT		Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.							211	176	188					1																	236343286		2203	4300	6503	SO:0001819	synonymous_variant	7107					integral to plasma membrane|membrane fraction		g.chr1:236343286C>T	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.795C>T	1.37:g.236343286C>T							p.S265S	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	886	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	265					Q53EK7|Q5TAE6|Q6FHI3	Silent	SNP	ENST00000366592.3	37	c.795C>T	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	C	6.352	0.433047	0.12045	.	.	ENSG00000077585	ENST00000454895	.	.	.	5.41	-7.04	0.01578	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	-8.5302	11.1147	0.48254	0.0953:0.2816:0.0:0.6231	.	.	.	.	V	129	.	.	A	+	2	0	GPR137B	234409909	0.000000	0.05858	0.002000	0.10522	0.798000	0.45092	-1.499000	0.02285	-1.855000	0.01162	-1.119000	0.02030	GCG		0.527	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		T	236343286	C	T	236343286	2	4	107	1	0	0	0	0	0	0	0	1	6646	767	27	1		1	GPR137B	1	236343286	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	181737537	236343286	12907335	2	7307											
IHH	3549	broad.mit.edu	37	chr2	219920384	219920384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtggggggtcctgagtctCgatgacctggaaggctctca	6	9	16	10	2	2	2	1	2	2	0	5	4	3	3	2	5	0	1	2	5	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr2:219920384C>T	ENST00000295731.6	-	3	780	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	261					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGAGTCTCGATGACCTGG	0.647																																						uc002vjo.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(781-783)Gag>Aag		Homo sapiens Indian hedgehog (IHH), mRNA.							53	56	55					2																	219920384		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920384C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.781G>A	2.37:g.219920384C>T	ENSP00000295731:p.Glu261Lys						p.E261K	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	830	-		Renal(207;0.0915)	261					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.781G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821829	0.50633	.	.	ENSG00000163501	ENST00000295731	D	0.99319	-5.74	5.16	5.16	0.70880	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.338860	0.34986	N	0.003521	D	0.97470	0.9172	L	0.52266	1.64	0.33830	D	0.630094	P	0.34724	0.465	B	0.29942	0.109	D	0.99975	1.2159	10	0.37606	T	0.19	-4.8243	11.7486	0.51835	0.0:0.9179:0.0:0.0821	.	261	Q14623	IHH_HUMAN	K	261	ENSP00000295731:E261K	ENSP00000295731:E261K	E	-	1	0	IHH	219628628	0.926000	0.31397	0.998000	0.56505	0.982000	0.71751	1.997000	0.40786	2.381000	0.81170	0.561000	0.74099	GAG		0.647	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		T	219920384	C	T	219920384	3	4	107	1	0	0	0	0	1	0	0	0	7607	893	31	2	458	2	IHH	2	219920384	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		219920384	23278989	3	7308											
PCYT1A	5130	broad.mit.edu	37	chr3	195965686	195965686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggagggggagcgctcgCgagtagggctgctgctgggg	5	5	24	7	3	0	0	0	0	0	0	1	3	0	2	0	7	3	5	0	7	1	1	rs549056100		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr3:195965686C>T	ENST00000292823.2	-	10	1149	c.977G>A	c.(976-978)cGc>cAc	p.R326H	PCYT1A_ENST00000431016.1_Missense_Mutation_p.R326H|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R326H	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	326	3 X repeats.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GGAGCGCTCGCGAGTAGGGCT	0.607																																						uc003fwg.3																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(976-978)cGc>cAc		Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	Choline(DB00122)						37	39	38					3																	195965686		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965686C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.977G>A	3.37:g.195965686C>T	ENSP00000292823:p.Arg326His					AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Missense_Mutation_p.R326H	p.R326H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	9	1150	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		326			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.977G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	8.529	0.870565	0.17322	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016	.	.	.	6.17	2.43	0.29744	.	0.183322	0.64402	N	0.000010	T	0.54398	0.1856	M	0.66939	2.045	0.37945	D	0.932467	B	0.09022	0.002	B	0.06405	0.002	T	0.49908	-0.8889	9	0.22706	T	0.39	-53.0425	8.698	0.34307	0.0:0.6213:0.0:0.3787	.	326	P49585	PCY1A_HUMAN	H	326;326;287;326	.	ENSP00000292823:R326H	R	-	2	0	PCYT1A	197450083	0.788000	0.28762	0.270000	0.24601	0.311000	0.27955	1.457000	0.35212	0.482000	0.27582	-0.126000	0.14955	CGC		0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		T	195965686	C	T	195965686	3	4	107	1	0	0	0	0	1	0	0	0	11610	768	27	1	130	1	PCYT1A	3	195965686	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		195965686	2056744	4	7309											
TLR10	81793	broad.mit.edu	37	chr4	38777038	38777038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctggagttgaaaaaggagGttataggataaatccagtgt	14	11	12	4	0	1	1	0	1	1	0	2	4	2	4	1	4	0	2	1	4	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:38777038G>T	ENST00000308973.4	-	4	779	c.174C>A	c.(172-174)aaC>aaA	p.N58K	TLR10_ENST00000508334.1_Missense_Mutation_p.N58K|TLR10_ENST00000361424.2_Missense_Mutation_p.N58K|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.N58K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	58					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAAAAGGAGGTTATAGGATA	0.428																																						uc003gtj.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(172-174)aaC>aaA		Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.							77	73	74					4																	38777038		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38777038G>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.174C>A	4.37:g.38777038G>T	ENSP00000308925:p.Asn58Lys					TLR10_uc021xnk.1_Missense_Mutation_p.N44K|TLR10_uc003gti.3_Missense_Mutation_p.N58K|TLR10_uc021xnl.1_Missense_Mutation_p.N58K|TLR10_uc003gtk.3_Missense_Mutation_p.N58K|TLR10_uc021xnm.1_Missense_Mutation_p.N58K	p.N58K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN			3	812	-			58					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.174C>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846952	0.51164	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334;ENST00000502321	T;T;T;T;T	0.74421	1.35;1.35;1.35;1.35;-0.84	5.14	-0.0112	0.13993	.	0.217764	0.30492	N	0.009516	D	0.85234	0.5650	H	0.96301	3.8	0.40244	D	0.977996	D	0.64830	0.994	D	0.67900	0.954	T	0.80450	-0.1377	10	0.87932	D	0	.	0.7296	0.00955	0.4025:0.1663:0.2623:0.1689	.	58	Q9BXR5	TLR10_HUMAN	K	58;58;58;58;44	ENSP00000308925:N58K;ENSP00000421483:N58K;ENSP00000354459:N58K;ENSP00000424923:N58K;ENSP00000427606:N44K	ENSP00000308925:N58K	N	-	3	2	TLR10	38453433	0.011000	0.17503	0.999000	0.59377	0.982000	0.71751	0.110000	0.15437	0.514000	0.28300	0.591000	0.81541	AAC		0.428	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			T	38777038	G	T	38777038	3	4	107	1	0	0	0	0	1	0	0	0	15947	1252	44	5	2265	5	TLR10	4	38777038	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		38777038	152377238	5	7310											
PDS5A	23244	broad.mit.edu	37	chr4	39839671	39839671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattcagacttgggtcgaCgtcctctcctgggtttggaa	7	12	13	9	2	2	2	1	0	1	2	5	5	3	3	2	3	0	1	2	3	1	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:39839671C>T	ENST00000303538.8	-	32	4354	c.3815G>A	c.(3814-3816)cGt>cAt	p.R1272H		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTGGGTCGACGTCCTCTCCT	0.473																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(3814-3816)cGt>cAt		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							117	117	117					4																	39839671		1905	4108	6013	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39839671C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3815G>A	4.37:g.39839671C>T	ENSP00000303427:p.Arg1272His						p.R1272H	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			31	4355	-			1272						Missense_Mutation	SNP	ENST00000303538.8	37	c.3815G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469624	0.84533	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	N	0.24115	0.695	0.80722	D	1	D	0.58620	0.983	P	0.51582	0.674	T	0.52953	-0.8506	8	.	.	.	-10.1092	19.0327	0.92963	0.0:1.0:0.0:0.0	.	1272	Q29RF7	PDS5A_HUMAN	H	1272	.	.	R	-	2	0	PDS5A	39516066	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.114000	0.64648	2.502000	0.84385	0.655000	0.94253	CGT		0.473	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		T	39839671	C	T	39839671	3	4	107	1	0	0	0	0	1	0	0	0	11691	536	19	1	206	1	PDS5A	4	39839671	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	1062633	39839671	151314605	6	7311											
DCHS2	54798	broad.mit.edu	37	chr4	155157533	155157533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgttatcatccaggacactGacaaacacaactgcaaaaga	17	7	6	11	1	1	2	1	1	0	1	3	3	2	3	1	1	3	2	1	1	5	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:155157533G>A	ENST00000357232.4	-	25	6905	c.6906C>T	c.(6904-6906)gtC>gtT	p.V2302V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2302	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGACACTGACAAACACAA	0.373																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6904-6906)gtC>gtT		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							93	88	90					4																	155157533		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157533G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6906C>T	4.37:g.155157533G>A							p.V2302V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	24	6906	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2302			Cadherin 20.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6906C>T	CCDS3785.1																																																																																				0.373	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155157533	G	A	155157533	2	1	107	1	0	0	0	0	0	0	0	1	4288	1277	45	3		3	DCHS2	4	155157533	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	115317862	155157533	35996743	7	7312											
ANP32C	55016	broad.mit.edu	37	chr4	165118560	165118560	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactgtttcagtggctctaTtgtgctgaggtctttaattt	7	19	9	6	0	3	1	1	1	2	0	3	1	3	1	0	2	2	3	0	2	3	7			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:165118560T>C	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGTGGCTCTATTGTGCTGAGG	0.428																																						uc011cjk.2																			0				NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35						c.(304-306)Ata>Gta		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.							146	151	149					4																	165118560		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118560T>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85746A>G	4.37:g.165118560T>C						MARCH1_uc003iqs.2_Intron	p.I102V	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	0	304	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	102					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.304A>G	CCDS54814.1																																																																																				0.428	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		C	165118560	T	C	165118560	1	2	107	0	1	0	0	0	0	0	0	0	707	1493	52	4		4	ANP32C	4	165118560	Intron	SNP	T	TCGA-06-6699-01A-11D-1845-08	9961027	165118560	26035716	8	7313											
PLEKHG4B	153478	broad.mit.edu	37	chr5	162950	162950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcagaggccttcccCggggcaggtgtggcagtgct	4	8	18	11	1	0	1	0	0	0	1	1	1	1	1	3	6	2	5	3	6	0	1	rs539055948		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:162950C>T	ENST00000283426.6	+	11	1745	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	565							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGCCTTCCCCGGGGCAGGTG	0.667													C|||	1	0.000199681	0	0.0014	5008	,	,		17026	0		0	False		,,,				2504	0					uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1693-1695)ccC>ccT		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							23	25	24					5																	162950		2188	4286	6474	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162950C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1695C>T	5.37:g.162950C>T							p.P565P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1745	+			565						Silent	SNP	ENST00000283426.6	37	c.1695C>T	CCDS34124.1																																																																																				0.667	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	162950	C	T	162950	2	4	107	1	0	0	0	0	0	0	0	1	12072	639	23	2		2	PLEKHG4B	5	162950	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		162950	180752310	9	7314											
KLHL3	26249	broad.mit.edu	37	chr5	137045486	137045486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctgccaggaccacaCggtgggcttctatctcgaca	8	8	12	13	2	2	0	0	0	2	0	3	2	2	1	2	4	2	3	2	4	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:137045486C>T	ENST00000309755.4	-	3	637	c.194G>A	c.(193-195)cGt>cAt	p.R65H	KLHL3_ENST00000508657.1_Missense_Mutation_p.R33H|KLHL3_ENST00000394937.3_Missense_Mutation_p.R65H	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	65	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.R65H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGGACCACACGGTGGGCTTC	0.547																																						uc010jek.3																			1	Substitution - Missense(1)	p.R65H(2)	upper_aerodigestive_tract(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(193-195)cGt>cAt		Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.							189	149	163					5																	137045486		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137045486C>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.194G>A	5.37:g.137045486C>T	ENSP00000312397:p.Arg65His					MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25H	p.R65H	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	2	638	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	65			BTB.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.194G>A	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809242	0.90707	.	.	ENSG00000146021	ENST00000508657;ENST00000309755;ENST00000505853;ENST00000394937	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.35	4.45	0.53987	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.93978	3.48	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.89320	0.3639	10	0.87932	D	0	.	9.3445	0.38100	0.0:0.7777:0.1453:0.077	.	25;65	D6RH21;Q9UH77	.;KLHL3_HUMAN	H	33;65;25;65	ENSP00000422099:R33H;ENSP00000312397:R65H;ENSP00000426173:R25H;ENSP00000378395:R65H	ENSP00000312397:R65H	R	-	2	0	KLHL3	137073385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.491000	0.53252	2.502000	0.84385	0.650000	0.86243	CGT		0.547	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			T	137045486	C	T	137045486	3	4	107	1	0	0	0	0	1	0	0	0	8383	536	19	1	1621	1	KLHL3	5	137045486	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	136882536	137045486	43869774	10	7315											
PCDHA4	56144	broad.mit.edu	37	chr5	140188686	140188686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacgcgtgccctggaCgaaacggacgctccgcgcca	10	3	12	16	7	0	0	0	0	0	0	1	3	1	2	3	2	4	2	3	2	2	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140188686C>T	ENST00000530339.1	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D638D|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.D638D	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1912-1914)gaC>gaT		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							92	92	92					5																	140188686		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188686C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1914C>T	5.37:g.140188686C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2015	+			649			Cadherin 6.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1914C>T	CCDS54916.1																																																																																				0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188686	C	T	140188686	2	4	107	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188686	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	3143200	140188686	40726574	11	7316											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736994	140736994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgcactttgtgggcGtggacggggttcgggctttc	2	12	16	11	4	0	0	0	0	0	0	3	1	0	1	1	5	1	3	1	5	0	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140736994G>A	ENST00000571252.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	743					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGACGGGGT	0.617																																						uc003ljq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2227-2229)Gtg>Atg		Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.							63	67	65					5																	140736994		2203	4300	6503	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736994G>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2227G>A	5.37:g.140736994G>A	ENSP00000458570:p.Val743Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Missense_Mutation_p.V743M|PCDHGC5_uc011dar.2_5'Flank	p.V743M	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2227	+			753					Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2227G>A	CCDS58979.1																																																																																				0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		A	140736994	G	A	140736994	3	1	107	1	0	0	0	0	1	0	0	0	11556	1145	40	1	2229	1	PCDHGA4	5	140736994	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	548308	140736994	40178266	12	7317											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405652	33405652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggctgtccgtgccctgCggctgcatctgtaccgtgac	3	10	13	15	4	1	1	0	1	1	0	2	1	2	1	4	2	5	4	4	2	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:33405652C>T	ENST00000418600.2	+	8	1071	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R265W|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R324W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	324	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCGTGCCCTGCGGCTGCATCT	0.627																																						uc011dri.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(970-972)Cgg>Tgg		Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.							74	68	70					6																	33405652		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405652C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.970C>T	6.37:g.33405652C>T	ENSP00000403636:p.Arg324Trp					SYNGAP1_uc003oeo.1_Missense_Mutation_p.R309W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R309W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R36W	p.R324W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			7	1165	+			324			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.970C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798119	0.70567	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.70516	-0.49;-0.49;-0.49	4.89	4.02	0.46733	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	L	0.36672	1.1	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.983	T	0.73855	-0.3851	10	0.72032	D	0.01	.	11.1607	0.48514	0.0:0.9106:0.0:0.0894	.	324;324;324;324	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	W	324;324;324;265	ENSP00000293748:R324W;ENSP00000403636:R324W;ENSP00000412475:R265W	ENSP00000293748:R324W	R	+	1	2	SYNGAP1	33513630	0.024000	0.19004	1.000000	0.80357	1.000000	0.99986	1.093000	0.30939	1.285000	0.44548	0.655000	0.94253	CGG		0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33405652	C	T	33405652	3	4	107	1	0	0	0	0	1	0	0	0	15444	759	27	1	1000	1	SYNGAP1	6	33405652	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		33405652	137709415	13	7318											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1708-1710)Cgg>Tgg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.							114	102	106					6																	43403588		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403588C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp					ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	p.R570W	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	1923	+	all_lung(25;0.00536)		570					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1708C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43403588	C	T	43403588	3	4	107	1	0	0	0	0	1	0	0	0	50	643	23	2	1589	2	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	9997936	43403588	127711479	14	7319											
TFAP2D	83741	broad.mit.edu	37	chr6	50696975	50696975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttggcttaaacttaccagCaggaagacggaaagcagcta	14	7	11	9	1	0	1	0	0	0	1	0	3	0	3	1	3	5	5	1	3	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:50696975C>T	ENST00000008391.3	+	5	1061	c.833C>T	c.(832-834)gCa>gTa	p.A278V	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACTTACCAGCAGGAAGACGG	0.423																																						uc003paf.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(832-834)gCa>gTa		Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.							160	141	147					6																	50696975		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696975C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.833C>T	6.37:g.50696975C>T	ENSP00000008391:p.Ala278Val					TFAP2D_uc011dwt.2_Non-coding_Transcript	p.A278V	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			4	1345	+	Lung NSC(77;0.0334)		278						Missense_Mutation	SNP	ENST00000008391.3	37	c.833C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593723	0.96602	.	.	ENSG00000008197	ENST00000008391	D	0.97279	-4.32	6.08	6.08	0.98989	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.93462	3.42	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.99136	1.0854	10	0.87932	D	0	-9.2262	20.6721	0.99693	0.0:1.0:0.0:0.0	.	278	Q7Z6R9	AP2D_HUMAN	V	278	ENSP00000008391:A278V	ENSP00000008391:A278V	A	+	2	0	TFAP2D	50804934	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCA		0.423	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		T	50696975	C	T	50696975	3	4	107	1	0	0	0	0	1	0	0	0	15787	710	25	3	851	3	TFAP2D	6	50696975	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	7293387	50696975	120418092	15	7320											
SIM1	6492	broad.mit.edu	37	chr6	100901684	100901684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacgttgtccagggggCtggtccgacttgagtggccc	5	8	16	12	2	0	1	0	1	0	0	2	2	2	1	4	5	1	2	4	5	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:100901684C>T	ENST00000369208.3	-	3	994	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SIM1_ENST00000262901.4_Missense_Mutation_p.S71N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	71					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGGGGGCTGGTCCGACT	0.612																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(211-213)aGc>aAc		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							79	70	73					6																	100901684		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100901684C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.212G>A	6.37:g.100901684C>T	ENSP00000358210:p.Ser71Asn					SIM1_uc021zdg.1_Missense_Mutation_p.S71N|SIM1_uc010kcu.3_Missense_Mutation_p.S71N	p.S71N	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	1	679	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	71					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.212G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251585	0.59212	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03772	3.81;3.81	5.56	5.56	0.83823	.	0.075935	0.85682	D	0.000000	T	0.01124	0.0037	N	0.05177	-0.1	0.52501	D	0.999956	B	0.17268	0.021	B	0.09377	0.004	T	0.44862	-0.9300	10	0.07175	T	0.84	.	19.5251	0.95201	0.0:1.0:0.0:0.0	.	71	P81133	SIM1_HUMAN	N	71	ENSP00000358210:S71N;ENSP00000262901:S71N	ENSP00000262901:S71N	S	-	2	0	SIM1	101008405	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.693000	0.68264	2.616000	0.88540	0.563000	0.77884	AGC		0.612	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100901684	C	T	100901684	3	4	107	1	0	0	0	0	1	0	0	0	14323	797	28	3	2128	3	SIM1	6	100901684	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	50204709	100901684	70213383	16	7321											
ZBTB24	9841	broad.mit.edu	37	chr6	109787239	109787239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttggacagagtgatcaCgtgcactggctctgtttgtg	6	14	12	9	1	2	2	1	1	1	1	3	3	3	3	1	2	1	3	1	2	0	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:109787239C>T	ENST00000230122.3	-	7	2076	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	637					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V637M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGAGTGATCACGTGCACTGGC	0.458																																						uc003ptl.1																			1	Substitution - Missense(1)	p.V637M(2)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1909-1911)Gtg>Atg		Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.							139	131	134					6																	109787239		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787239C>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1909G>A	6.37:g.109787239C>T	ENSP00000230122:p.Val637Met					MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.V581M|ZBTB24_uc010kdt.1_Non-coding_Transcript	p.V637M	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	6	2077	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	637					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1909G>A	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820135	0.50633	.	.	ENSG00000112365	ENST00000230122	T	0.11277	2.79	5.95	4.91	0.64330	.	0.063131	0.64402	D	0.000007	T	0.12689	0.0308	L	0.27053	0.805	0.43334	D	0.995373	D	0.76494	0.999	P	0.62184	0.899	T	0.02070	-1.1219	10	0.87932	D	0	-20.3851	16.0434	0.80701	0.0:0.9256:0.0:0.0743	.	637	O43167	ZBT24_HUMAN	M	637	ENSP00000230122:V637M	ENSP00000230122:V637M	V	-	1	0	ZBTB24	109893932	1.000000	0.71417	0.859000	0.33776	0.556000	0.35491	3.661000	0.54503	2.821000	0.97095	0.650000	0.86243	GTG		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		T	109787239	C	T	109787239	3	4	107	1	0	0	0	0	1	0	0	0	17528	536	19	1	188	1	ZBTB24	6	109787239	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	8885555	109787239	61327828	17	7322											
PARK2	5071	broad.mit.edu	37	chr6	161771139	161771139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccgccctggctacacgtCgaaccagtggtcccccatgc	6	6	11	18	4	0	0	0	0	0	0	2	1	1	0	5	3	3	1	5	3	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:161771139C>T	ENST00000366898.1	-	12	1492	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PARK2_ENST00000366896.1_Missense_Mutation_p.D315N|PARK2_ENST00000366897.1_Missense_Mutation_p.D436N|PARK2_ENST00000338468.3_Missense_Mutation_p.D273N|PARK2_ENST00000366894.1_Missense_Mutation_p.D273N	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	464					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTACACGTCGAACCAGTGG	0.592																																						uc021zhu.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1531-1533)Gac>Aac		Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.							39	33	35					6																	161771139		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161771139C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1390G>A	6.37:g.161771139C>T	ENSP00000355865:p.Asp464Asn					PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Missense_Mutation_p.D273N|PARK2_uc003qtx.4_Missense_Mutation_p.D464N|PARK2_uc021zhs.1_Missense_Mutation_p.D386N|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.D436N|PARK2_uc003qtz.4_Missense_Mutation_p.D315N|PARK2_uc021zhv.1_Missense_Mutation_p.D385N|PARK2_uc021zhw.1_Missense_Mutation_p.D273N|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.D414N|PARK2_uc011egf.2_Missense_Mutation_p.D138N	p.D511N	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	12	1622	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	464					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1531G>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092758	0.94149	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.93426	-2.91;-3.07;-3.22;-2.61;-2.61	5.27	5.27	0.74061	.	0.136255	0.48767	D	0.000164	D	0.90587	0.7049	L	0.33485	1.01	0.80722	D	1	D;P;D	0.76494	0.999;0.69;0.976	D;B;P	0.75020	0.985;0.081;0.51	D	0.88028	0.2773	10	0.02654	T	1	.	15.8117	0.78571	0.0:1.0:0.0:0.0	.	315;436;464	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	N	464;436;315;273;273	ENSP00000355865:D464N;ENSP00000355863:D436N;ENSP00000355862:D315N;ENSP00000355860:D273N;ENSP00000343589:D273N	ENSP00000343589:D273N	D	-	1	0	PARK2	161691129	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.476000	0.66793	2.457000	0.83068	0.563000	0.77884	GAC		0.592	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			T	161771139	C	T	161771139	3	4	107	1	0	0	0	0	1	0	0	0	11449	884	31	2	11	2	PARK2	6	161771139	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	51983900	161771139	9343928	18	7323											
PMS2	5395	broad.mit.edu	37	chr7	6027045	6027045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctagaagacagcataccccTtttctgtcctagagggctcc	9	10	9	13	0	1	3	0	0	1	3	3	3	3	3	4	1	2	3	4	1	4	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:6027045T>C	ENST00000265849.7	-	11	1456	c.1351A>G	c.(1351-1353)Agg>Ggg	p.R451G	PMS2_ENST00000441476.2_Missense_Mutation_p.R345G|PMS2_ENST00000406569.3_Missense_Mutation_p.R451G|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	451					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCATACCCCTTTTCTGTCCT	0.532			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.3			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1351-1353)Agg>Ggg	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.							102	94	96					7																	6027045		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6027045T>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1351A>G	7.37:g.6027045T>C	ENSP00000265849:p.Arg451Gly					PMS2_uc003spj.3_Missense_Mutation_p.R345G|PMS2_uc003spk.3_Missense_Mutation_p.R316G|PMS2_uc011jwl.2_Missense_Mutation_p.R316G|PMS2_uc010ktg.3_Missense_Mutation_p.R140G|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.R451G	p.R451G	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1438	-		Ovarian(82;0.0694)	451					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1351A>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	9.681	1.149190	0.21288	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.86164	1.02;1.02;-2.08	5.84	3.5	0.40072	.	0.992676	0.08187	N	0.984572	T	0.80711	0.4675	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.63834	-0.6547	10	0.27785	T	0.31	-0.0108	5.9215	0.19084	0.1298:0.1384:0.0:0.7318	.	451;451;345	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	G	451;404;345;451	ENSP00000265849:R451G;ENSP00000392843:R345G;ENSP00000384308:R451G	ENSP00000265849:R451G	R	-	1	2	PMS2	5993571	0.064000	0.20934	0.000000	0.03702	0.010000	0.07245	2.124000	0.42006	0.497000	0.27926	0.529000	0.55759	AGG		0.532	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		C	6027045	T	C	6027045	3	2	107	1	0	0	0	0	1	0	0	0	12143	1608	56	4	1257	4	PMS2	7	6027045	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08		6027045	153111618	19	7324											
MLXIPL	51085	broad.mit.edu	37	chr7	73010591	73010591	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagatgtgtgtgatacgCcggttctcggtctcggggag	5	10	18	8	5	2	2	0	1	2	1	4	4	2	3	1	5	1	1	1	5	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:73010591C>A	ENST00000313375.3	-	13	1997	c.1950G>T	c.(1948-1950)cgG>cgT	p.R650R	MLXIPL_ENST00000429400.2_Silent_p.R650R|MLXIPL_ENST00000395189.1_Silent_p.R557R|MLXIPL_ENST00000434326.1_Silent_p.R556R|MLXIPL_ENST00000414749.2_Silent_p.R648R|MLXIPL_ENST00000354613.1_Silent_p.R648R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	650	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGTGATACGCCGGTTCTCGG	0.627																																						uc003tyn.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1948-1950)cgG>cgT		Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.							91	94	93					7																	73010591		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010591C>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1950G>T	7.37:g.73010591C>A						MLXIPL_uc003tyj.1_Silent_p.R29R|MLXIPL_uc003tyk.1_Silent_p.R648R|MLXIPL_uc003tym.1_Silent_p.R650R|MLXIPL_uc003tyl.1_Silent_p.R648R|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.R556R	p.R650R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			12	1998	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	650					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.1950G>T	CCDS5553.1																																																																																				0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		A	73010591	C	A	73010591	2	1	107	1	0	0	0	0	0	0	0	1	9637	726	26	5		5	MLXIPL	7	73010591	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	66983546	73010591	86128072	20	7325											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-																															ttttgtcttcaggggttggcTttttttcttctaggagtggc																										TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3718-3720)aagfs		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							241	235	237					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	4008	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82595385	T	-	82595385	7	5	107	1	0	1	0	1	0	0	0	0	11583	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-06-6699-01A-11D-1845-08	9584794	82595385	76543278	21	7326											
SEMA3E	9723	broad.mit.edu	37	chr7	83047753	83047753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggtcaaaaggacatctgCcccttcctctctcagatctg	8	11	9	13	0	5	1	2	0	3	1	7	2	6	2	3	3	1	0	3	3	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:83047753C>T	ENST00000307792.3	-	5	970	c.503G>A	c.(502-504)gGc>gAc	p.G168D	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G108D	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	168	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGACATCTGCCCCTTCCTCT	0.403																																						uc003uhy.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(502-504)gGc>gAc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							89	78	82					7																	83047753		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83047753C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.503G>A	7.37:g.83047753C>T	ENSP00000303212:p.Gly168Asp					SEMA3E_uc022agy.1_Missense_Mutation_p.G108D	p.G168D	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			4	1124	-		Medulloblastoma(109;0.109)	168			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.503G>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680803	0.88542	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.13089	2.62;2.62;2.62	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51301	-0.8723	10	0.66056	D	0.02	.	19.4668	0.94946	0.0:1.0:0.0:0.0	.	168	O15041	SEM3E_HUMAN	D	168;108;168;108	ENSP00000303212:G168D;ENSP00000405052:G108D;ENSP00000412867:G108D	ENSP00000303212:G168D	G	-	2	0	SEMA3E	82885689	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.046000	0.64226	2.669000	0.90835	0.655000	0.94253	GGC		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		T	83047753	C	T	83047753	3	4	107	1	0	0	0	0	1	0	0	0	14028	739	26	3	1876	3	SEMA3E	7	83047753	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	452368	83047753	76090910	22	7327											
SLC26A5	375611	broad.mit.edu	37	chr7	103032068	103032068	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggcctgttatgtacataCctgtgtcttcccaccggttc	7	13	9	12	1	1	1	0	0	1	1	3	1	2	1	4	2	2	3	4	2	3	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:103032068C>T	ENST00000306312.3	-	11	1495		c.e11+1		SLC26A5_ENST00000339444.6_Splice_Site|SLC26A5_ENST00000354356.4_Splice_Site|SLC26A5_ENST00000432958.2_Splice_Site|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Splice_Site|SLC26A5_ENST00000393729.1_Splice_Site|SLC26A5_ENST00000393735.2_Splice_Site|SLC26A5_ENST00000393727.1_Splice_Site|SLC26A5_ENST00000393730.1_Splice_Site	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5						regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TATGTACATACCTGTGTCTTC	0.438																																						uc003vbz.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.e11+1		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							84	80	82					7																	103032068		2203	4300	6503	SO:0001630	splice_region_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103032068C>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1233+1G>A	7.37:g.103032068C>T						SLC26A5_uc003vbt.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbu.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Splice_Site|SLC26A5_uc003vby.3_Splice_Site|SLC26A5_uc010liy.3_Splice_Site|SLC26A5_uc003vbx.3_Splice_Site_p.Q411_splice	p.Q411_splice	NM_198999	NP_945350	P58743	S26A5_HUMAN			11	1495	-			411					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Splice_Site	SNP	ENST00000306312.3	37	c.1233_splice	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981081	0.74474	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4284	0.90617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC26A5	102819304	1.000000	0.71417	0.997000	0.53966	0.691000	0.40173	7.137000	0.77295	2.639000	0.89480	0.650000	0.86243	.		0.438	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	Intron	T	103032068	C	T	103032068	5	4	107	1	0	0	0	0	0	0	1	0	14520	521	18	3	1081	3	SLC26A5	7	103032068	Splice_Site	SNP	C	TCGA-06-6699-01A-11D-1845-08	19984315	103032068	56106595	23	7328											
C7orf66	154907	broad.mit.edu	37	chr7	108524200	108524200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgatccatcatgtgaCgatattgagctgagaattcc	11	13	8	9	1	2	4	1	4	1	1	5	6	4	4	2	0	1	1	2	0	2	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:108524200C>T	ENST00000379007.2	-	2	266	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	71						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CATCATGTGACGATATTGAGC	0.418																																						uc003vfo.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(211-213)cGt>cAt		Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.							195	166	176					7																	108524200		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524200C>T	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.212G>A	7.37:g.108524200C>T	ENSP00000368292:p.Arg71His						p.R71H	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			1	260	-			71						Missense_Mutation	SNP	ENST00000379007.2	37	c.212G>A	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629235	0.14257	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.87	2.98	0.34508	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.08055	0.003	T	0.17228	-1.0376	7	.	.	.	.	9.7267	0.40337	0.0:0.7903:0.2097:0.0	.	71	A4D0T2	CG066_HUMAN	H	71	.	.	R	-	2	0	C7orf66	108311436	0.001000	0.12720	0.122000	0.21767	0.038000	0.13279	0.041000	0.13927	1.184000	0.42957	0.563000	0.77884	CGT		0.418	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		T	108524200	C	T	108524200	3	4	107	1	0	0	0	0	1	0	0	0	2412	536	19	1	139	1	C7orf66	7	108524200	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	5492132	108524200	50614463	24	7329											
LMBR1	64327	broad.mit.edu	37	chr7	156518202	156518202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatagaagccgacaacaGaggacaccataagatagctg	16	5	11	9	1	0	3	0	0	0	3	0	5	0	4	2	2	3	2	2	2	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:156518202G>T	ENST00000353442.5	-	14	1321	c.1085C>A	c.(1084-1086)tCt>tAt	p.S362Y	LMBR1_ENST00000354505.4_Missense_Mutation_p.S403Y|LMBR1_ENST00000359422.4_Missense_Mutation_p.S210Y|LMBR1_ENST00000540390.1_Missense_Mutation_p.S341Y	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	362					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GCCGACAACAGAGGACACCAT	0.413																																						uc010lqn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(1207-1209)tCt>tAt		Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.							92	95	94					7																	156518202		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156518202G>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1085C>A	7.37:g.156518202G>T	ENSP00000326604:p.Ser362Tyr					LMBR1_uc003wmv.4_Missense_Mutation_p.S210Y|LMBR1_uc003wmw.4_Missense_Mutation_p.S362Y|LMBR1_uc003wmx.4_Missense_Mutation_p.S210Y|LMBR1_uc011kvx.2_Missense_Mutation_p.S341Y	p.S403Y	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	14	1423	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	362					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.1208C>A	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985203	0.74474	.	.	ENSG00000105983	ENST00000353442;ENST00000316198;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.1	5.1	0.69264	LMBR1-like membrane protein (1);	0.051447	0.85682	D	0.000000	T	0.65863	0.2732	M	0.76838	2.35	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.989	P;D;P	0.70935	0.883;0.971;0.883	T	0.70447	-0.4869	10	0.87932	D	0	-15.0064	17.059	0.86542	0.0:0.0:1.0:0.0	.	341;403;362	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	Y	362;4;210;401;403;341	ENSP00000326604:S362Y;ENSP00000352392:S210Y;ENSP00000408256:S401Y;ENSP00000346500:S403Y;ENSP00000445509:S341Y	ENSP00000326700:S4Y	S	-	2	0	LMBR1	156210963	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.811000	0.91954	2.527000	0.85204	0.467000	0.42956	TCT		0.413	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		T	156518202	G	T	156518202	3	4	107	1	0	0	0	0	1	0	0	0	8840	942	33	5	403	5	LMBR1	7	156518202	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	47994002	156518202	2620461	25	7330											
PTPRN2	5799	broad.mit.edu	37	chr7	157475460	157475460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctgggtcgccccctagtCccgagagcttctccttcagc	5	9	9	18	2	2	1	1	0	1	1	5	2	3	1	5	1	2	1	5	1	1	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:157475460C>T	ENST00000389418.4	-	13	1967	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	PTPRN2_ENST00000389413.3_Missense_Mutation_p.G624E|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G615E|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G636E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G676E	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	653					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCCCCTAGTCCCGAGAGCTT	0.567																																						uc003wno.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1957-1959)gGa>gAa		Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.							100	113	109					7																	157475460		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157475460C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1958G>A	7.37:g.157475460C>T	ENSP00000374069:p.Gly653Glu					PTPRN2_uc003wnp.3_Missense_Mutation_p.G636E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G624E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G615E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G676E	p.G653E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	12	2079	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	653					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1958G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652560	0.29336	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03152	4.05;4.1;4.04;4.04;4.03	4.58	3.67	0.42095	.	0.215051	0.28589	N	0.014815	T	0.08537	0.0212	L	0.48877	1.53	0.40124	D	0.976639	B;B;B;D;B	0.63880	0.365;0.129;0.365;0.993;0.129	B;B;B;P;B	0.53954	0.3;0.075;0.3;0.738;0.048	T	0.15350	-1.0440	10	0.52906	T	0.07	.	13.1347	0.59403	0.0:0.6771:0.3229:0.0	.	676;615;624;636;653	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	E	615;624;636;653;676	ENSP00000387114:G615E;ENSP00000374064:G624E;ENSP00000374067:G636E;ENSP00000374069:G653E;ENSP00000385464:G676E	ENSP00000374064:G624E	G	-	2	0	PTPRN2	157168221	0.149000	0.22717	0.194000	0.23346	0.622000	0.37654	1.385000	0.34408	2.068000	0.61886	0.655000	0.94253	GGA		0.567	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157475460	C	T	157475460	3	4	107	1	0	0	0	0	1	0	0	0	12808	855	30	3	1133	3	PTPRN2	7	157475460	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	957258	157475460	1663203	26	7331											
PRSS55	203074	broad.mit.edu	37	chr8	10396129	10396129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaactacaacctctggatCgagaaagtgacccagctaga	14	7	10	10	1	1	4	0	2	1	2	2	6	1	5	2	1	4	1	2	1	5	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:10396129C>T	ENST00000328655.3	+	5	925	c.885C>T	c.(883-885)atC>atT	p.I295I	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	295	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.I295I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACCTCTGGATCGAGAAAGTGA	0.532																																						uc003wta.3																			1	Substitution - coding silent(1)	p.I295I(2)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(883-885)atC>atT		Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.							106	112	110					8																	10396129		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10396129C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.885C>T	8.37:g.10396129C>T						AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	p.I295I	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			4	925	+			295			Peptidase S1.		E5RJX5	Silent	SNP	ENST00000328655.3	37	c.885C>T	CCDS5976.1																																																																																				0.532	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		T	10396129	C	T	10396129	2	4	107	1	0	0	0	0	0	0	0	1	12634	874	31	2		2	PRSS55	8	10396129	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		10396129	135967893	27	7332											
CPA6	57094	broad.mit.edu	37	chr8	68396059	68396059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacggcagcgaaaccttGagttccttgaccttgttttt	7	14	8	12	2	0	2	0	2	0	0	2	3	2	2	4	1	2	3	4	1	1	6			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:68396059G>A	ENST00000297770.4	-	8	997	c.782C>T	c.(781-783)tCa>tTa	p.S261L	CPA6_ENST00000297769.4_Missense_Mutation_p.S113L|CPA6_ENST00000518549.1_Missense_Mutation_p.S261L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	261						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCGAAACCTTGAGTTCCTTGA	0.408																																						uc003xxq.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(781-783)tCa>tTa		Homo sapiens carboxypeptidase A6 (CPA6), mRNA.							191	171	178					8																	68396059		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68396059G>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.782C>T	8.37:g.68396059G>A	ENSP00000297770:p.Ser261Leu					CPA6_uc003xxr.4_Missense_Mutation_p.S113L|CPA6_uc003xxs.2_Missense_Mutation_p.S261L	p.S261L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		7	1038	-			261					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.782C>T	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865406	0.51588	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.11063	2.81;2.81;2.81	4.97	4.97	0.65823	Peptidase M14, carboxypeptidase A (2);	0.210965	0.41194	D	0.000922	T	0.14184	0.0343	L	0.49256	1.55	0.39514	D	0.968402	P;P;B	0.39737	0.685;0.458;0.057	B;B;B	0.38264	0.269;0.086;0.077	T	0.02868	-1.1100	10	0.62326	D	0.03	.	17.3782	0.87398	0.0:0.0:1.0:0.0	.	261;113;261	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	L	113;261;261	ENSP00000297769:S113L;ENSP00000297770:S261L;ENSP00000431112:S261L	ENSP00000297769:S113L	S	-	2	0	CPA6	68558613	1.000000	0.71417	0.810000	0.32431	0.900000	0.52787	4.504000	0.60414	2.457000	0.83068	0.643000	0.83706	TCA		0.408	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		A	68396059	G	A	68396059	3	1	107	1	0	0	0	0	1	0	0	0	3794	1294	45	3	547	3	CPA6	8	68396059	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	57999930	68396059	77967963	28	7333											
FER1L6	654463	broad.mit.edu	37	chr8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccttccccctcagccGcccagacacctccttttcgt	4	12	4	21	2	2	1	1	0	1	1	6	1	5	1	7	0	1	0	7	0	0	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5392-5394)cGc>cAc		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							150	149	149					8																	125131850		1922	4125	6047	SO:0001583	missense	654463					integral to membrane		g.chr8:125131850G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5393G>A	8.37:g.125131850G>A	ENSP00000428280:p.Arg1798His					AK057332_uc003yqy.1_Intron	p.R1798H	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5599	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1798						Missense_Mutation	SNP	ENST00000522917.1	37	c.5393G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125131850	G	A	125131850	3	1	107	1	0	0	0	0	1	0	0	0	5815	1087	38	1	5551	1	FER1L6	8	125131850	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	56735791	125131850	21232172	29	7334											
PTPDC1	138639	broad.mit.edu	37	chr9	96860365	96860365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccttggttcgcagcaCactttctttctggagtcagt	7	13	11	10	1	3	0	1	0	2	0	4	2	3	2	1	3	2	3	1	3	1	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:96860365C>A	ENST00000375360.3	+	7	1695	c.1355C>A	c.(1354-1356)aCa>aAa	p.T452K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.T504K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	452					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTCGCAGCACACTTTCTTTC	0.483																																						uc010mrj.2																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1516-1518)aCa>aAa		Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.							71	63	66					9																	96860365		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860365C>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1355C>A	9.37:g.96860365C>A	ENSP00000364509:p.Thr452Lys					PTPDC1_uc004auf.2_Missense_Mutation_p.T452K|PTPDC1_uc004aug.2_Missense_Mutation_p.T452K|PTPDC1_uc004auh.2_Missense_Mutation_p.T504K|PTPDC1_uc010mri.2_Missense_Mutation_p.T504K	p.T506K	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN			5	1619	+			452					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1517C>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190213	0.58017	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.15139	2.46;2.45	5.91	5.01	0.66863	.	0.297857	0.39544	N	0.001323	T	0.28466	0.0704	M	0.66939	2.045	0.21147	N	0.999772	P;P;P;P	0.51653	0.947;0.943;0.947;0.905	B;P;B;B	0.49012	0.394;0.598;0.394;0.394	T	0.12293	-1.0553	10	0.48119	T	0.1	-3.6198	14.3652	0.66801	0.0:0.9294:0.0:0.0706	.	506;504;506;452	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	452;504	ENSP00000364509:T452K;ENSP00000288976:T504K	ENSP00000288976:T504K	T	+	2	0	PTPDC1	95900186	0.997000	0.39634	0.008000	0.14137	0.990000	0.78478	3.954000	0.56708	1.500000	0.48636	0.655000	0.94253	ACA		0.483	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		A	96860365	C	A	96860365	3	1	107	1	0	0	0	0	1	0	0	0	12773	478	17	5	1619	5	PTPDC1	9	96860365	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		96860365	44353066	30	7335											
DTX4	23220	broad.mit.edu	37	chr11	58949764	58949764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccactgaagaccgccccatCgcaggtgatccggagacaag	11	4	11	15	3	0	4	0	2	0	2	2	5	1	4	5	2	0	1	5	2	2	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:58949764C>T	ENST00000227451.3	+	2	868	c.764C>T	c.(763-765)tCg>tTg	p.S255L	DTX4_ENST00000532982.1_Missense_Mutation_p.S149L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	255					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACCGCCCCATCGCAGGTGATC	0.657																																						uc001nns.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(763-765)tCg>tTg		Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.							34	47	43					11																	58949764		2100	4226	6326	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949764C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.764C>T	11.37:g.58949764C>T	ENSP00000227451:p.Ser255Leu					DTX4_uc001nnr.2_Missense_Mutation_p.S149L	p.S255L	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			1	1021	+		all_epithelial(135;0.125)	255					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.764C>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	C	4.517	0.095850	0.08681	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12361	2.69;2.89	4.62	1.76	0.24704	.	1.930780	0.02268	N	0.068215	T	0.18087	0.0434	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.37606	T	0.19	.	7.316	0.26501	0.0:0.7182:0.0:0.2818	.	255	Q9Y2E6	DTX4_HUMAN	L	149;255	ENSP00000434055:S149L;ENSP00000227451:S255L	ENSP00000227451:S255L	S	+	2	0	DTX4	58706340	0.005000	0.15991	0.000000	0.03702	0.149000	0.21700	0.922000	0.28734	0.214000	0.20742	-0.140000	0.14226	TCG		0.657	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		T	58949764	C	T	58949764	3	4	107	1	0	0	0	0	1	0	0	0	4797	893	31	2	770	2	DTX4	11	58949764	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		58949764	76056752	31	7336											
MMP13	4322	broad.mit.edu	37	chr11	102826186	102826186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccttcaggattcccgCgagatttgtaggatggtagt	8	14	11	8	2	2	1	1	0	1	1	4	4	3	3	2	3	0	2	2	3	2	6			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:102826186C>T	ENST00000260302.3	-	2	185	c.157G>A	c.(157-159)Gcg>Acg	p.A53T	MMP13_ENST00000340273.4_Missense_Mutation_p.A53T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	53					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGGATTCCCGCGAGATTTGTA	0.458																																						uc001phl.3																			0		p.A53A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(157-159)Gcg>Acg		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							158	153	155					11																	102826186		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826186C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.157G>A	11.37:g.102826186C>T	ENSP00000260302:p.Ala53Thr						p.A53T	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	1	186	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	53					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.157G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	6.664	0.490974	0.12702	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.35048	1.33;1.33	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.365110	0.04739	N	0.422578	T	0.37019	0.0988	L	0.40543	1.245	0.43118	D	0.994836	B	0.24483	0.104	B	0.24394	0.053	T	0.03887	-1.0995	10	0.19147	T	0.46	.	15.515	0.75815	0.0:0.9319:0.0:0.0681	.	53	P45452	MMP13_HUMAN	T	53	ENSP00000260302:A53T;ENSP00000339672:A53T	ENSP00000260302:A53T	A	-	1	0	MMP13	102331396	0.961000	0.32948	0.999000	0.59377	0.253000	0.25986	1.687000	0.37680	2.885000	0.99019	0.655000	0.94253	GCG		0.458	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		T	102826186	C	T	102826186	3	4	107	1	0	0	0	0	1	0	0	0	9652	768	27	1	1294	1	MMP13	11	102826186	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	43876422	102826186	32180330	32	7337											
IL23A	51561	broad.mit.edu	37	chr12	56733735	56733735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctttcagcctgagggTcaccactgggagactcagca	9	9	11	12	0	3	2	3	1	0	1	4	3	4	2	3	2	2	1	3	2	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:56733735T>C	ENST00000228534.4	+	4	583	c.417T>C	c.(415-417)ggT>ggC	p.G139G	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	139					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AGCCTGAGGGTCACCACTGGG	0.572																																						uc001sla.3																			0				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(415-417)ggT>ggC		Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.							102	109	107					12																	56733735		2203	4300	6503	SO:0001819	synonymous_variant	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733735T>C	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"Interleukins and interleukin receptors"	15488	protein-coding gene	gene with protein product	"interleukin-six, G-CSF related factor"	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.417T>C	12.37:g.56733735T>C							p.G139G	NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN			3	583	+			139					Q6NZ80|Q6NZ82|Q9H2A5	Silent	SNP	ENST00000228534.4	37	c.417T>C	CCDS8916.1																																																																																				0.572	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584		C	56733735	T	C	56733735	2	2	107	1	0	0	0	0	0	0	0	1	7675	1654	58	4		4	IL23A	12	56733735	Silent	SNP	T	TCGA-06-6699-01A-11D-1845-08		56733735	77118160	33	7338											
CUX2	23316	broad.mit.edu	37	chr12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatgctgaggaagaggcagGcagccagccccaggactcag	11	3	16	11	0	1	2	1	1	0	1	1	5	1	5	3	5	3	3	3	5	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:111785603G>A	ENST00000261726.6	+	22	4089	c.3935G>A	c.(3934-3936)gGc>gAc	p.G1312D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1312					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGAGGCAGGCAGCCAGCCC	0.612																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3934-3936)gGc>gAc		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							46	56	52					12																	111785603		2134	4230	6364	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785603G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3935G>A	12.37:g.111785603G>A	ENSP00000261726:p.Gly1312Asp						p.G1312D	NM_015267	NP_056082	O14529	CUX2_HUMAN			21	4089	+			1312					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3935G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	0.127	-1.118697	0.01785	.	.	ENSG00000111249	ENST00000261726	T	0.42131	0.98	5.44	0.285	0.15705	.	0.654986	0.16067	N	0.231207	T	0.18130	0.0435	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23976	-1.0173	10	0.11794	T	0.64	-5.2437	5.1234	0.14871	0.4095:0.144:0.4465:0.0	.	1312	O14529	CUX2_HUMAN	D	1312	ENSP00000261726:G1312D	ENSP00000261726:G1312D	G	+	2	0	CUX2	110269986	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.568000	0.05909	-0.009000	0.14296	0.557000	0.71058	GGC		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111785603	G	A	111785603	3	1	107	1	0	0	0	0	1	0	0	0	4065	1203	42	3	4021	3	CUX2	12	111785603	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	55051868	111785603	22066292	34	7339											
FAM124A	220108	broad.mit.edu	37	chr13	51825704	51825704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggccatcgacaaCgtcctggcgtggatccaccc	8	6	12	15	3	0	0	0	0	0	0	3	3	2	2	4	4	2	1	4	4	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr13:51825704C>T	ENST00000322475.8	+	3	336	c.201C>T	c.(199-201)aaC>aaT	p.N67N	FAM124A_ENST00000280057.6_Silent_p.N103N	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	67										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCGACAACGTCCTGGCGT	0.687																																						uc001vff.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(307-309)aaC>aaT		Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.							27	24	25					13																	51825704		2203	4300	6503	SO:0001819	synonymous_variant	220108							g.chr13:51825704C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.201C>T	13.37:g.51825704C>T						FAM124A_uc001vfe.3_Silent_p.N67N|FAM124A_uc001vfg.2_Silent_p.N67N	p.N103N	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	477	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	67					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.309C>T	CCDS55900.1																																																																																				0.687	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		T	51825704	C	T	51825704	2	4	107	1	0	0	0	0	0	0	0	1	5425	535	19	1		1	FAM124A	13	51825704	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		51825704	63344174	35	7340											
MAX	4149	broad.mit.edu	37	chr14	65569050	65569050	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatgtcatcgttaTcgctcatttcctacggccca	7	12	6	16	4	2	0	2	0	0	0	6	1	3	0	4	1	1	2	4	1	2	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:65569050T>A	ENST00000358664.4	-	1	138	c.8A>T	c.(7-9)gAt>gTt	p.D3V	MAX_ENST00000556443.1_Missense_Mutation_p.D3V|MAX_ENST00000341653.2_Missense_Mutation_p.D3V|MAX_ENST00000284165.6_Missense_Mutation_p.D3V|MAX_ENST00000555419.1_Missense_Mutation_p.D3V|MAX_ENST00000358402.4_Missense_Mutation_p.D3V|MAX_ENST00000556979.1_Missense_Mutation_p.D3V|MAX_ENST00000557277.1_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.D3V|MAX_ENST00000555667.1_Missense_Mutation_p.D3V|MAX_ENST00000555932.1_Missense_Mutation_p.D3V|MAX_ENST00000246163.2_Missense_Mutation_p.D3V	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	3					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCATCGTTATCGCTCATTTC	0.667																																						uc001xif.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(7-9)gAt>gTt		Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.							68	57	60					14																	65569050		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65569050T>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.8A>T	14.37:g.65569050T>A	ENSP00000351490:p.Asp3Val					MAX_uc001xic.1_Missense_Mutation_p.D3V|MAX_uc001xie.1_Missense_Mutation_p.D3V|MAX_uc001xig.1_Missense_Mutation_p.D3V|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.D3V|MAX_uc001xij.1_Missense_Mutation_p.D3V|MAX_uc001xik.3_Missense_Mutation_p.D3V	p.D3V	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	0	178	-			3					A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.8A>T	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336274	0.81801	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000555932;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D;D	0.99674	-4.26;-4.7;-4.3;-4.55;-4.18;-6.36;-4.42;-4.55;-4.54;-4.07	4.91	4.91	0.64330	.	0.060442	0.64402	D	0.000005	D	0.99603	0.9856	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.966;1.0;0.994;0.981;0.991;0.973;0.965;0.998	P;D;D;P;D;P;P;D	0.74348	0.85;0.983;0.932;0.84;0.937;0.883;0.902;0.94	D	0.97859	1.0279	10	0.87932	D	0	-7.5389	12.3391	0.55083	0.0:0.0:0.0:1.0	.	3;3;3;3;3;3;3;3	G3V2N4;Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;.;MAX_HUMAN;.;.	V	3	ENSP00000342482:D3V;ENSP00000351175:D3V;ENSP00000284165:D3V;ENSP00000351490:D3V;ENSP00000452405:D3V;ENSP00000452378:D3V;ENSP00000452286:D3V;ENSP00000452197:D3V;ENSP00000450818:D3V;ENSP00000246163:D3V	ENSP00000246163:D3V	D	-	2	0	MAX	64638803	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.691000	0.68249	1.960000	0.56953	0.477000	0.44152	GAT		0.667	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		A	65569050	T	A	65569050	3	1	107	1	0	0	0	0	1	0	0	0	9339	1435	50	5	834	5	MAX	14	65569050	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08		65569050	41780490	36	7341											
ISM2	145501	broad.mit.edu	37	chr14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagatgtccaggcgctcgCgagggccactggcatccctc	6	7	14	14	3	0	1	0	0	0	1	4	2	2	1	3	4	0	3	3	4	1	1	rs201324121		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	462	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													C|||	0	0	0	0	5008	,	,		16221	0		0	False		,,,				2504	0					uc001xtz.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1384-1386)cGc>cAc		Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.							30	32	32					14																	77942269		2203	4298	6501	SO:0001583	missense	145501					extracellular region		g.chr14:77942269C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1385G>A	14.37:g.77942269C>T	ENSP00000341490:p.Arg462His					ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.R374H	p.R462H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			6	1459	-			462			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1385G>A	CCDS9864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	ISM2	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC		0.672	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		T	77942269	C	T	77942269	3	4	107	1	0	0	0	0	1	0	0	0	7861	768	27	1	334	1	ISM2	14	77942269	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	12373219	77942269	29407271	37	7342											
ATG2B	55102	broad.mit.edu	37	chr14	96752258	96752258	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcccacggcaccagtcAcccctctgctctcgtgttct	4	10	7	20	3	4	0	1	0	3	0	6	0	4	0	5	1	1	3	5	1	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:96752258A>C	ENST00000359933.4	-	42	6964	c.6071T>G	c.(6070-6072)gTg>gGg	p.V2024G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2024					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCACCAGTCACCCCTCTGCT	0.582																																						uc001yfi.3																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(6070-6072)gTg>gGg		Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.							66	60	62					14																	96752258		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96752258A>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6071T>G	14.37:g.96752258A>C	ENSP00000353010:p.Val2024Gly						p.V2024G	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	41	6436	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	2024					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.6071T>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	29.2	4.989431	0.93106	.	.	ENSG00000066739	ENST00000359933	T	0.10288	2.89	5.8	5.8	0.92144	Autophagy-related, C-terminal (1);	0.170648	0.51477	D	0.000082	T	0.20373	0.0490	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	P	0.53401	0.725	T	0.00901	-1.1521	10	0.29301	T	0.29	.	16.1596	0.81693	1.0:0.0:0.0:0.0	.	2024	Q96BY7	ATG2B_HUMAN	G	2024	ENSP00000353010:V2024G	ENSP00000353010:V2024G	V	-	2	0	ATG2B	95822011	1.000000	0.71417	0.466000	0.27168	0.893000	0.52053	8.938000	0.92943	2.216000	0.71823	0.533000	0.62120	GTG		0.582	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		C	96752258	A	C	96752258	3	2	107	1	0	0	0	0	1	0	0	0	1094	159	6	5	169	5	ATG2B	14	96752258	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	18809989	96752258	10597282	38	7343											
C15orf2	23742	broad.mit.edu	37	chr15	24921107	24921107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctcccctgtcccgggaCgcctccccgcccggtcgggc	1	5	12	23	6	0	0	0	0	0	0	4	1	3	1	8	3	0	1	8	3	0	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:24921107C>T	ENST00000329468.2	+	1	567	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	31					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGTCCCGGGACGCCTCCCCGC	0.697																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(91-93)gaC>gaT		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							6	9	8					15																	24921107		2002	3931	5933	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921107C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.93C>T	15.37:g.24921107C>T							p.D31D	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	567	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	31						Silent	SNP	ENST00000329468.2	37	c.93C>T	CCDS10015.1																																																																																				0.697	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921107	C	T	24921107	2	4	107	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921107	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		24921107	77610285	39	7344											
OCA2	4948	broad.mit.edu	37	chr15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtaaacaggtatgcaccGtgacctggaaagcaagagag	15	6	13	7	1	0	2	0	1	0	1	0	4	0	3	2	3	3	4	2	3	5	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:28273201G>A	ENST00000354638.3	-	4	486	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	OCA2_ENST00000353809.5_Missense_Mutation_p.R111W|OCA2_ENST00000382996.2_Missense_Mutation_p.R111W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	111					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488									Oculocutaneous Albinism																													uc001zbh.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(331-333)Cgg>Tgg		Homo sapiens oculocutaneous albinism II (OCA2), mRNA.							101	96	98					15																	28273201		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28273201G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.331C>T	15.37:g.28273201G>A	ENSP00000346659:p.Arg111Trp					OCA2_uc010ayv.3_Missense_Mutation_p.R111W	p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	3	441	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	111					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.331C>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	8.259	0.810666	0.16537	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.93076	-2.68;-2.66;-2.63;-3.16;-2.03	5.02	1.02	0.19986	.	1.588100	0.03933	N	0.285542	D	0.85592	0.5732	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.74303	-0.3709	10	0.51188	T	0.08	7.4157	7.213	0.25945	0.3742:0.0:0.6258:0.0	.	111;111	Q04671-2;Q04671	.;P_HUMAN	W	111	ENSP00000346659:R111W;ENSP00000261276:R111W;ENSP00000372457:R111W;ENSP00000414425:R111W;ENSP00000415431:R111W	ENSP00000261276:R111W	R	-	1	2	OCA2	25946796	0.092000	0.21681	0.000000	0.03702	0.001000	0.01503	1.415000	0.34748	-0.058000	0.13177	-0.259000	0.10710	CGG		0.488	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		A	28273201	G	A	28273201	3	1	107	1	0	0	0	0	1	0	0	0	10815	1144	40	1	2269	1	OCA2	15	28273201	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	3352094	28273201	74258191	40	7345											
WDR76	79968	broad.mit.edu	37	chr15	44150913	44150913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgattgaattccaggagaaGtcagcctttgatttctttga	10	14	10	7	1	2	4	1	3	1	1	3	6	3	4	2	1	1	0	2	1	2	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:44150913G>A	ENST00000263795.6	+	11	1524	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.S421N	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	485										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCAGGAGAAGTCAGCCTTTG	0.403																																						uc001zti.2																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1453-1455)aGt>aAt		Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.							181	174	176					15																	44150913		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44150913G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1454G>A	15.37:g.44150913G>A	ENSP00000263795:p.Ser485Asn					WDR76_uc021skg.1_Missense_Mutation_p.S421N	p.S485N	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	10	1573	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	485					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1454G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811389	0.32053	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.65732	-0.17;-0.17	5.91	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.427928	0.29218	N	0.012800	T	0.40909	0.1136	L	0.44542	1.39	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.08806	-1.0704	10	0.23891	T	0.37	-26.6041	1.4318	0.02335	0.3424:0.0982:0.3422:0.2171	.	485	Q9H967	WDR76_HUMAN	N	485;421	ENSP00000263795:S485N;ENSP00000370645:S421N	ENSP00000263795:S485N	S	+	2	0	WDR76	41938205	0.008000	0.16893	0.620000	0.29132	0.724000	0.41520	0.024000	0.13555	-0.068000	0.12953	0.462000	0.41574	AGT		0.403	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		A	44150913	G	A	44150913	3	1	107	1	0	0	0	0	1	0	0	0	17323	1029	36	3	1496	3	WDR76	15	44150913	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	15877712	44150913	58380479	41	7346											
ADAMTS7	11173	broad.mit.edu	37	chr15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgcagctggccctTgtagagcatagcgtcaaagt	9	10	12	10	1	1	1	1	0	0	1	1	1	1	1	2	1	4	4	2	1	3	3	rs151217691	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:79067005T>C	ENST00000388820.4	-	12	2047	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	613	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K613E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642													T|||	2	0.000399361	8e-04	0	5008	,	,		22847	0		0.001	False		,,,				2504	0					uc002bej.4																			1	Substitution - Missense(1)	p.K613E(2)	lung(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1837-1839)Aag>Gag		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.		T	GLU/LYS	2,4390	4.2+/-10.8	0,2,2194	52	52	52		1837	2.5	0.4	15	dbSNP_134	52	1,8577		0,1,4288	no	missense	ADAMTS7	NM_014272.3	56	0,3,6482	CC,CT,TT		0.0117,0.0455,0.0231	possibly-damaging	613/1687	79067005	3,12967	2196	4289	6485	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79067005T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1837A>G	15.37:g.79067005T>C	ENSP00000373472:p.Lys613Glu					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E	p.K613E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			11	2048	-			613			Cys-rich.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1837A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010915	0.75046	4.55E-4	1.17E-4	ENSG00000136378	ENST00000388820	T	0.03745	3.82	3.61	2.48	0.30137	.	0.119618	0.56097	N	0.000038	T	0.05135	0.0137	L	0.52266	1.64	0.32945	D	0.518907	B;P	0.45396	0.414;0.857	B;B	0.43680	0.196;0.427	T	0.18999	-1.0319	10	0.66056	D	0.02	.	7.6721	0.28465	0.0:0.1063:0.0:0.8937	.	613;613	A8MQ00;Q9UKP4	.;ATS7_HUMAN	E	613	ENSP00000373472:K613E	ENSP00000373472:K613E	K	-	1	0	ADAMTS7	76854060	1.000000	0.71417	0.351000	0.25721	0.976000	0.68499	5.906000	0.69900	0.601000	0.29879	0.240000	0.17902	AAG		0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79067005	T	C	79067005	3	2	107	1	0	0	0	0	1	0	0	0	271	1821	63	4	3275	4	ADAMTS7	15	79067005	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	34916092	79067005	23464387	42	7347											
SSTR5	6755	broad.mit.edu	37	chr16	1129345	1129345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcgtgtggccaagctggcGagcgccgcggcctgggtcct	3	6	17	15	6	0	0	0	0	0	0	1	1	1	0	5	4	2	1	5	4	1	0	rs370872680	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1129345G>A	ENST00000293897.4	+	1	565	c.477G>A	c.(475-477)gcG>gcA	p.A159A	SSTR5_ENST00000562758.1_Silent_p.A159A|SSTR5_ENST00000397547.2_Silent_p.A159A|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	159					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCAAGCTGGCGAGCGCCGCGG	0.706													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		11509	0		0	False		,,,				2504	0					uc021taf.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(475-477)gcG>gcA		Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	Octreotide(DB00104)	G	,	1,4337		0,1,2168	12	15	14		477,477	1.7	1	16		14	0,8472		0,0,4236	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,1,6404	AA,AG,GG		0.0,0.0231,0.0078	,	159/365,159/365	1129345	1,12809	2169	4236	6405	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129345G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.477G>A	16.37:g.1129345G>A						LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A159A	p.A159A	NM_001172560	NP_001166031	P35346	SSR5_HUMAN			1	548	+		Hepatocellular(780;0.00369)	159					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.477G>A	CCDS10429.1																																																																																				0.706	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			A	1129345	G	A	1129345	2	1	107	1	0	0	0	0	0	0	0	1	15200	1045	37	2		2	SSTR5	16	1129345	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08		1129345	89225408	43	7348											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1814345	1814345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagcgggtggaggcccaAtgaggacgacgctgggaatg	9	5	18	9	3	0	2	0	2	0	0	0	6	0	5	2	5	1	1	2	5	2	0	rs375982015	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1814345A>G	ENST00000250894.4	+	19	2319	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.N715S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	721					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAGGCCCAATGAGGACGAC	0.706													A|||	2	0.000399361	0	0	5008	,	,		13985	0		0	False		,,,				2504	0.002					uc010uvl.2																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2164-2166)aAt>aGt		Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.		A	SER/ASN,SER/ASN	1,4059		0,1,2029	14	20	18		2144,2162	-1.6	0	16		18	0,8328		0,0,4164	no	missense,missense	MAPK8IP3	NM_001040439.1,NM_015133.3	46,46	0,1,6193	GG,GA,AA		0.0,0.0246,0.0081	benign,benign	715/1331,721/1337	1814345	1,12387	2030	4164	6194	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814345A>G	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2162A>G	16.37:g.1814345A>G	ENSP00000250894:p.Asn721Ser					MAPK8IP3_uc002cmk.3_Missense_Mutation_p.N721S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.N711S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.N715S	p.N722S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			18	2285	+			721					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2165A>G	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	A	4.023	0.001827	0.07819	2.46E-4	0.0	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.27890	1.64;1.64	4.99	-1.64	0.08318	.	1.066860	0.07124	N	0.844323	T	0.07234	0.0183	N	0.00289	-1.7	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25745	-1.0123	10	0.44086	T	0.13	-0.0253	4.5626	0.12168	0.3297:0.0:0.3358:0.3346	.	722;715;721	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	S	721;715	ENSP00000250894:N721S;ENSP00000348290:N715S	ENSP00000250894:N721S	N	+	2	0	MAPK8IP3	1754346	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-0.100000	0.12241	-1.531000	0.00922	AAT		0.706	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		G	1814345	A	G	1814345	3	3	107	1	0	0	0	0	1	0	0	0	9286	101	4	4	2252	4	MAPK8IP3	16	1814345	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	685000	1814345	88540408	44	7349											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356301	77356301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccatctttcactttgcCggacattgcaaaaaaaaatt	14	13	5	9	1	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	4	5	rs142855321		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:77356301C>T	ENST00000282849.5	-	14	2513	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	699	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G699S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCACTTTGCCGGACATTGCA	0.403																																						uc002ffc.4																			1	Substitution - Missense(1)	p.G699S(2)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2095-2097)Ggc>Agc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.		C	SER/GLY	1,4395	2.1+/-5.4	0,1,2197	158	151	154		2095	1.4	1	16	dbSNP_134	154	0,8600		0,0,4300	no	missense	ADAMTS18	NM_199355.2	56	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	699/1222	77356301	1,12995	2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356301C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2095G>A	16.37:g.77356301C>T	ENSP00000282849:p.Gly699Ser					ADAMTS18_uc010chc.1_Missense_Mutation_p.G287S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G395S	p.G699S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			13	2514	-			699			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2095G>A	CCDS10926.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.13	1.547781	0.27652	2.27E-4	0.0	ENSG00000140873	ENST00000282849	T	0.66815	-0.23	5.93	1.35	0.21983	.	0.438446	0.26055	N	0.026612	T	0.34048	0.0884	N	0.03253	-0.375	0.28748	N	0.901594	B;B	0.12013	0.005;0.0	B;B	0.13407	0.009;0.002	T	0.16041	-1.0416	10	0.15952	T	0.53	.	5.0613	0.14559	0.1451:0.445:0.0:0.4099	.	699;699	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	699	ENSP00000282849:G699S	ENSP00000282849:G699S	G	-	1	0	ADAMTS18	75913802	0.912000	0.30974	0.970000	0.41538	0.990000	0.78478	1.167000	0.31847	0.407000	0.25591	-0.126000	0.14955	GGC		0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77356301	C	T	77356301	3	4	107	1	0	0	0	0	1	0	0	0	263	652	23	2	1610	2	ADAMTS18	16	77356301	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	75541956	77356301	12998452	45	7350											
MYO15A	51168	broad.mit.edu	37	chr17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagccgcagcatctacGcgtcaggcgagcccctgggc	6	4	13	18	5	2	0	1	0	1	0	2	1	2	0	4	2	4	3	4	2	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18022706G>A	ENST00000205890.5	+	2	930	c.592G>A	c.(592-594)Gcg>Acg	p.A198T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	198					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCATCTACGCGTCAGGCGA	0.701																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(592-594)Gcg>Acg		Homo sapiens myosin XVA (MYO15A), mRNA.							22	25	24					17																	18022706		1960	4134	6094	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022706G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.592G>A	17.37:g.18022706G>A	ENSP00000205890:p.Ala198Thr					MYO15A_uc021trl.1_Missense_Mutation_p.A198T	p.A198T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			0	811	+	all_neural(463;0.228)		198			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.592G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	5.34	2.01	0.26516	.	.	.	.	.	T	0.73434	0.3586	N	0.19112	0.55	0.18873	N	0.999983	P	0.36535	0.557	B	0.22753	0.041	T	0.60311	-0.7288	9	0.54805	T	0.06	.	9.1987	0.37244	0.0:0.1113:0.3807:0.508	.	198	Q9UKN7	MYO15_HUMAN	T	198	ENSP00000205890:A198T	ENSP00000205890:A198T	A	+	1	0	MYO15A	17963431	0.057000	0.20700	0.029000	0.17559	0.158000	0.22134	1.093000	0.30939	0.105000	0.17753	-0.324000	0.08512	GCG		0.701	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18022706	G	A	18022706	3	1	107	1	0	0	0	0	1	0	0	0	10063	1087	38	1	594	1	MYO15A	17	18022706	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		18022706	63172504	46	7351											
FAM83G	644815	broad.mit.edu	37	chr17	18891569	18891569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctgctcaccttgaggtgCcccaggtgcatgcaggcccg	6	7	13	15	1	1	1	1	1	0	0	1	1	1	1	5	3	5	3	5	3	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18891569C>T	ENST00000388995.6	-	3	904	c.681G>A	c.(679-681)ggG>ggA	p.G227G	FAM83G_ENST00000345041.4_Silent_p.G227G|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Silent_p.G227G|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	227					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCTTGAGGTGCCCCAGGTGCA	0.577																																						uc002guw.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(679-681)ggG>ggA		Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.							76	80	79					17																	18891569		2071	4210	6281	SO:0001819	synonymous_variant	644815							g.chr17:18891569C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.681G>A	17.37:g.18891569C>T						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.G227G	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			2	848	-			227					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.681G>A	CCDS42276.1																																																																																				0.577	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			T	18891569	C	T	18891569	2	4	107	1	0	0	0	0	0	0	0	1	5639	726	26	3		3	FAM83G	17	18891569	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	868863	18891569	62303641	47	7352											
ACE	1636	broad.mit.edu	37	chr17	61560507	61560507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgtacccccccttcccGctacaacttcgactggtggt	5	10	10	16	3	0	0	0	0	0	0	2	1	1	0	4	3	3	2	4	3	3	4	rs376430907		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:61560507G>A	ENST00000290866.4	+	9	1484	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ACE_ENST00000584529.1_Intron|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.R487H|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000538928.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	487	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCCCTTCCCGCTACAACTTC	0.587																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1459-1461)cGc>cAc		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	G	HIS/ARG	0,4406		0,0,2203	118	130	126		1460	-2.5	1	17		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACE	NM_000789.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	487/1307	61560507	1,13005	2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560507G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1460G>A	17.37:g.61560507G>A	ENSP00000290866:p.Arg487His					ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R304H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	p.R487H	NM_000789	NP_000780	P12821	ACE_HUMAN			8	1494	+			487			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1460G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450318	0.26074	0.0	1.16E-4	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.34667	1.35;1.35	4.66	-2.49	0.06403	.	0.402953	0.25267	N	0.031903	T	0.28366	0.0701	L	0.48642	1.525	0.09310	N	1	D;P	0.61080	0.989;0.803	P;B	0.46144	0.505;0.235	T	0.29150	-1.0021	10	0.37606	T	0.19	-7.4058	7.5541	0.27814	0.2107:0.0:0.5263:0.263	.	487;487	P12821-2;P12821	.;ACE_HUMAN	H	487	ENSP00000290866:R487H;ENSP00000397593:R487H	ENSP00000290866:R487H	R	+	2	0	ACE	58914239	0.085000	0.21516	0.966000	0.40874	0.146000	0.21551	0.565000	0.23578	-0.243000	0.09653	-2.303000	0.00259	CGC		0.587	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61560507	G	A	61560507	3	1	107	1	0	0	0	0	1	0	0	0	136	1087	38	1	1494	1	ACE	17	61560507	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	42668938	61560507	19634703	48	7353											
SOX9	6662	broad.mit.edu	37	chr17	70117873	70117873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaacgccttcatggTgtgggcgcaggcggcgcgca	6	6	16	13	5	1	1	1	1	0	0	1	1	1	1	2	4	1	2	2	4	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:70117873T>C	ENST00000245479.2	+	1	713	c.341T>C	c.(340-342)gTg>gCg	p.V114A		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	114					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCTTCATGGTGTGGGCGCAG	0.657																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(340-342)gTg>gCg		Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.							28	23	25					17																	70117873		2201	4298	6499	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70117873T>C	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.341T>C	17.37:g.70117873T>C	ENSP00000245479:p.Val114Ala					AK094963_uc002jiv.3_5'Flank	p.V114A	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		0	713	+		Colorectal(1115;0.245)	114					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.341T>C	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851092	0.71719	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.98221	-4.8	3.99	3.99	0.46301	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.98175	0.9397	M	0.90650	3.135	0.80722	D	1	B	0.31968	0.349	B	0.39379	0.298	D	0.99758	1.1020	10	0.87932	D	0	.	12.8893	0.58061	0.0:0.0:0.0:1.0	.	114	P48436	SOX9_HUMAN	A	114	ENSP00000245479:V114A	ENSP00000245479:V114A	V	+	2	0	SOX9	67629468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.796000	0.85898	1.449000	0.47699	0.358000	0.22013	GTG		0.657	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		C	70117873	T	C	70117873	3	2	107	1	0	0	0	0	1	0	0	0	14958	1696	59	4	343	4	SOX9	17	70117873	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	8557366	70117873	11077337	49	7354											
CSNK1D	1453	broad.mit.edu	37	chr17	80213441	80213441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccccgcaccatctgatgGtggggatgcccactaggcaa	8	7	12	14	1	1	1	0	1	1	0	1	2	1	2	4	4	2	2	4	4	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:80213441G>A	ENST00000314028.6	-	3	549	c.200C>T	c.(199-201)aCc>aTc	p.T67I	CSNK1D_ENST00000392334.2_Missense_Mutation_p.T67I|CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000398519.5_Missense_Mutation_p.T67I|AC132872.2_ENST00000598222.1_5'Flank	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	67	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCATCTGATGGTGGGGATGCC	0.572																																						uc002kej.3																			0				breast(2)|large_intestine(2)|lung(7)	11						c.(199-201)aCc>aTc		Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.							114	103	107					17																	80213441		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80213441G>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.200C>T	17.37:g.80213441G>A	ENSP00000324464:p.Thr67Ile					CSNK1D_uc002kei.3_Missense_Mutation_p.T67I|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank	p.T67I	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		2	537	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		67			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.200C>T	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565031	0.27915	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000403276	T;T;T	0.64085	-0.08;-0.08;-0.08	5.42	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044986	0.85682	D	0.000000	T	0.54532	0.1864	L	0.45422	1.42	0.47905	D	0.99954	B;B;B	0.19706	0.013;0.018;0.038	B;B;B	0.17979	0.02;0.011;0.02	T	0.53641	-0.8410	10	0.42905	T	0.14	.	14.6875	0.69059	0.0:0.0:0.8548:0.1452	.	67;67;10	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	I	67;67;10;67	ENSP00000324464:T67I;ENSP00000376146:T67I;ENSP00000385769:T67I	ENSP00000324464:T67I	T	-	2	0	CSNK1D	77806730	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.036000	0.57304	2.553000	0.86117	0.651000	0.88453	ACC		0.572	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		A	80213441	G	A	80213441	3	1	107	1	0	0	0	0	1	0	0	0	3952	1261	44	3	1112	3	CSNK1D	17	80213441	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	10095568	80213441	981769	50	7355											
ANKRD30B	374860	broad.mit.edu	37	chr18	14803789	14803789	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacccaaggctacacatcaAaaagaattcgataccttaag	17	9	5	10	1	1	1	1	0	0	1	2	2	1	1	2	1	3	1	2	1	8	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:14803789A>G	ENST00000358984.4	+	24	2430	c.2250A>G	c.(2248-2250)caA>caG	p.Q750Q	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	750										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTACACATCAAAAAGAATTCG	0.323																																						uc010dlo.2																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(2248-2250)caA>caG		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							44	35	38					18																	14803789		691	1588	2279	SO:0001819	synonymous_variant	374860							g.chr18:14803789A>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2250A>G	18.37:g.14803789A>G						ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.Q750Q	p.Q750Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			23	2430	+			835					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.2250A>G	CCDS54182.1																																																																																				0.323	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		G	14803789	A	G	14803789	2	3	107	1	0	0	0	0	0	0	0	1	659	11	1	4		4	ANKRD30B	18	14803789	Silent	SNP	A	TCGA-06-6699-01A-11D-1845-08		14803789	63273459	51	7356											
RBBP8	5932	broad.mit.edu	37	chr18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A																															cttctcttttacagcctgggINSaaaaaaaaacatctgaaaac																								rs200956310		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1063-1065)aaafs	p.K355fs	RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K355fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	355					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination																														uc002kua.3																			6	Substitution - Missense(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)	p.K355E(3)|p.G354G(3)|p.K357fs*3(2)	ovary(2)|central_nervous_system(2)|endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1060-1065)gggaaafs	Homologous recombination	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572852_20572853insA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1071dupA	18.37:g.20572861_20572861dupA	ENSP00000382628:p.Lys355fs					RBBP8_uc002ktw.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.G354fs	p.G354fs	NM_203291	NP_976036	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		10	1185_1186	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		354					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.1062_1063insA	CCDS11875.1																																																																																				0.361	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		A	20572853	-	A	20572852	7	5	107	1	0	1	1	0	0	0	0	0	13105	1161	41	0	1100	0	RBBP8	18	20572852	Frame_Shift_Ins	INS	-	TCGA-06-6699-01A-11D-1845-08	5769063	20572852	57504396	52	7357											
PIGN	23556	broad.mit.edu	37	chr18	59757728	59757728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttttgtttacagcaaacaCcagattgttgtagagtttct	10	16	7	8	0	1	2	0	0	1	2	1	2	1	2	2	0	3	5	2	0	3	8	rs377599365		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:59757728C>T	ENST00000357637.5	-	24	2679	c.2264G>A	c.(2263-2265)gGt>gAt	p.G755D	PIGN_ENST00000400334.3_Missense_Mutation_p.G755D	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	755					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAGCAAACACCAGATTGTTG	0.343																																						uc021ulb.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(2263-2265)gGt>gAt		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.							84	77	79					18																	59757728		1809	4072	5881	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59757728C>T	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2264G>A	18.37:g.59757728C>T	ENSP00000350263:p.Gly755Asp					PIGN_uc021ulc.1_Missense_Mutation_p.G381D|PIGN_uc021uld.1_Missense_Mutation_p.G381D	p.G755D	NM_176787	NP_789744	O95427	PIGN_HUMAN			20	2296	-		Colorectal(73;0.187)	755					Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.2264G>A	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667970	0.14710	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.54071	0.59;0.59	5.45	1.43	0.22495	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.266978	0.36034	N	0.002825	T	0.44030	0.1274	M	0.68593	2.085	0.44234	D	0.997076	B;B	0.15141	0.007;0.012	B;B	0.24848	0.056;0.056	T	0.16217	-1.0410	10	0.13853	T	0.58	-0.6139	6.0936	0.20008	0.2726:0.5759:0.0:0.1515	.	755;755	B2RCI8;O95427	.;PIGN_HUMAN	D	755	ENSP00000350263:G755D;ENSP00000383188:G755D	ENSP00000350263:G755D	G	-	2	0	PIGN	57908708	0.451000	0.25705	0.019000	0.16419	0.555000	0.35460	1.003000	0.29809	-0.038000	0.13624	0.491000	0.48974	GGT		0.343	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		T	59757728	C	T	59757728	3	4	107	1	0	0	0	0	1	0	0	0	11893	507	18	3	563	3	PIGN	18	59757728	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	39184876	59757728	18319520	53	7358											
KCNG2	26251	broad.mit.edu	37	chr18	77623839	77623839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgacgacctgctgcgcGtgtgtgacgactacgacgtg	7	7	14	13	7	0	1	0	1	0	0	0	5	0	1	2	0	3	1	2	0	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:77623839G>A	ENST00000316249.3	+	1	172	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	58					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTGCGCGTGTGTGACGA	0.741																																						uc010xfl.2																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(172-174)Gtg>Atg		Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.							16	14	15					18																	77623839		2190	4275	6465	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623839G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.172G>A	18.37:g.77623839G>A	ENSP00000315654:p.Val58Met						p.V58M	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	0	172	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	58						Missense_Mutation	SNP	ENST00000316249.3	37	c.172G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942439	0.34283	.	.	ENSG00000178342	ENST00000316249	D	0.97505	-4.41	3.8	2.92	0.33932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.260219	0.30392	U	0.009727	D	0.97204	0.9086	M	0.78801	2.425	0.28923	N	0.892004	D	0.63046	0.992	P	0.58130	0.833	D	0.93505	0.6848	10	0.59425	D	0.04	.	7.0841	0.25247	0.2871:0.0:0.7129:0.0	.	58	Q9UJ96	KCNG2_HUMAN	M	58	ENSP00000315654:V58M	ENSP00000315654:V58M	V	+	1	0	KCNG2	75724827	0.945000	0.32115	0.999000	0.59377	0.128000	0.20619	1.453000	0.35167	0.587000	0.29643	0.484000	0.47621	GTG		0.741	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		A	77623839	G	A	77623839	3	1	107	1	0	0	0	0	1	0	0	0	8028	1145	40	1	174	1	KCNG2	18	77623839	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	17866111	77623839	453409	54	7359											
C19orf35	374872	broad.mit.edu	37	chr19	2278816	2278816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgggctgtgcagatCgcggagggagaggcccagtg	7	5	18	11	3	0	2	0	0	0	2	2	4	1	3	3	4	2	2	3	4	0	0	rs184271660		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:2278816C>A	ENST00000342063.3	-	3	472	c.379G>T	c.(379-381)Gat>Tat	p.D127Y		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	127										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCAGATCGCGGAGGGAG	0.692																																						uc002lvn.2																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(379-381)Gat>Tat		Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.																																				SO:0001583	missense	374872							g.chr19:2278816C>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.379G>T	19.37:g.2278816C>A	ENSP00000345102:p.Asp127Tyr					SPPL2B_uc010dsw.1_Intron	p.D127Y	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	479	-			127						Missense_Mutation	SNP	ENST00000342063.3	37	c.379G>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110499	0.37242	.	.	ENSG00000188305	ENST00000342063	T	0.17370	2.28	4.1	1.93	0.25924	.	.	.	.	.	T	0.20495	0.0493	L	0.60455	1.87	0.09310	N	1	P	0.47191	0.891	P	0.45195	0.473	T	0.09015	-1.0694	9	0.66056	D	0.02	.	8.0342	0.30482	0.0:0.7973:0.0:0.2027	.	127	Q6ZS72	CS035_HUMAN	Y	127	ENSP00000345102:D127Y	ENSP00000345102:D127Y	D	-	1	0	C19orf35	2229816	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.518000	0.22847	0.191000	0.20236	-0.860000	0.03012	GAT		0.692	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		A	2278816	C	A	2278816	3	1	107	1	0	0	0	0	1	0	0	0	1920	884	31	5	1050	5	C19orf35	19	2278816	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		2278816	56850167	55	7360											
CLEC4M	10332	broad.mit.edu	37	chr19	7833851	7833851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggatctgcaaaaagcccGcagcctgcttcagagacgaa	13	6	10	12	2	2	1	1	0	1	1	2	4	2	2	2	1	4	3	2	1	3	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:7833851G>A	ENST00000327325.5	+	7	1295	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A257T|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A371T|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A342T|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A326T|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A381T|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A326T|CLEC4M_ENST00000597522.1_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	393					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAAAAGCCCGCAGCCTGCTT	0.498																																						uc010dvt.3																			0		p.P392L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1177-1179)Gca>Aca		Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.							160	128	139					19																	7833851		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833851G>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1177G>A	19.37:g.7833851G>A	ENSP00000316228:p.Ala393Thr					CLEC4M_uc002mih.3_Missense_Mutation_p.A370T|CLEC4M_uc010xjw.2_Missense_Mutation_p.A326T|CLEC4M_uc010dvs.3_Missense_Mutation_p.A369T|CLEC4M_uc010xjx.2_Missense_Mutation_p.A342T|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.A257T	p.A393T	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN			6	1295	+			393					A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1177G>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	G	6.020	0.371994	0.11409	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	2.12	-4.23	0.03789	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.13372	0.0324	L	0.42632	1.34	0.09310	N	1	B;B;B;B;B;B	0.28667	0.04;0.0;0.028;0.004;0.219;0.101	B;B;B;B;B;B	0.23574	0.011;0.001;0.006;0.006;0.014;0.047	T	0.13764	-1.0497	9	0.54805	T	0.06	.	3.3622	0.07190	0.4991:0.0:0.2259:0.275	.	342;326;393;381;370;257	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	T	393;381;371;342;326	ENSP00000316228:A393T;ENSP00000377680:A381T;ENSP00000248228:A371T;ENSP00000335228:A342T;ENSP00000351954:A326T	ENSP00000248228:A371T	A	+	1	0	CLEC4M	7739851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.858000	0.00177	-1.839000	0.01186	-1.809000	0.00614	GCA		0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		A	7833851	G	A	7833851	3	1	107	1	0	0	0	0	1	0	0	0	3518	1087	38	1	1224	1	CLEC4M	19	7833851	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	5555035	7833851	51295132	56	7361											
FBN3	84467	broad.mit.edu	37	chr19	8148157	8148157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtagcagtagcatccGgtgtgtacccggcctgacag	9	8	14	10	2	0	1	0	1	0	0	1	1	1	1	3	3	3	6	3	3	4	4	rs372328082		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:8148157G>T	ENST00000600128.1	-	57	7601	c.7187C>A	c.(7186-7188)cCg>cAg	p.P2396Q	FBN3_ENST00000601739.1_Missense_Mutation_p.P2396Q|FBN3_ENST00000270509.2_Missense_Mutation_p.P2396Q			Q75N90	FBN3_HUMAN	fibrillin 3	2396	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTAGCATCCGGTGTGTACCC	0.602																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7186-7188)cCg>cAg		Homo sapiens fibrillin 3 (FBN3), mRNA.							166	123	137					19																	8148157		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8148157G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7187C>A	19.37:g.8148157G>T	ENSP00000470498:p.Pro2396Gln					FBN3_uc002mje.3_Missense_Mutation_p.P235Q	p.P2396Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			55	7204	-			2396			EGF-like 38; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7187C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859597	0.51376	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92199	-2.99	5.13	3.0	0.34707	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.465867	0.21569	U	0.072440	D	0.92532	0.7628	L	0.51422	1.61	0.09310	N	1	P;P	0.49090	0.919;0.896	P;P	0.58721	0.793;0.844	D	0.84857	0.0817	10	0.25751	T	0.34	.	11.723	0.51693	0.1448:0.0:0.8552:0.0	.	2396;502	Q75N90;Q6ZNB8	FBN3_HUMAN;.	Q	2396;502	ENSP00000270509:P2396Q	ENSP00000270509:P2396Q	P	-	2	0	FBN3	8054157	0.736000	0.28164	0.002000	0.10522	0.004000	0.04260	4.192000	0.58378	0.577000	0.29470	-0.320000	0.08662	CCG		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8148157	G	T	8148157	3	4	107	1	0	0	0	0	1	0	0	0	5704	1116	39	5	1274	5	FBN3	19	8148157	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	314306	8148157	50980826	57	7362											
MUC16	94025	broad.mit.edu	37	chr19	9056233	9056233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactgttcccagctcaaCgctctctgtcattctggtat	6	15	7	13	1	5	0	3	0	2	0	7	0	6	0	1	1	2	4	1	1	2	3	rs201549151		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9056233C>T	ENST00000397910.4	-	3	31416	c.31213G>A	c.(31213-31215)Gtt>Att	p.V10405I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10407	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGCTCAACGCTCTCTGTC	0.483																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31213-31215)Gtt>Att		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		C	ILE/VAL	1,4039		0,1,2019	203	201	201		31213	-0.7	0	19		201	0,8372		0,0,4186	yes	missense	MUC16	NM_024690.2	29	0,1,6205	TT,TC,CC		0.0,0.0248,0.0081	benign	10405/14508	9056233	1,12411	2020	4186	6206	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056233C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31213G>A	19.37:g.9056233C>T	ENSP00000381008:p.Val10405Ile						p.V10405I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	31417	-			10407			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31213G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.457	0.854377	0.17106	2.48E-4	0.0	ENSG00000181143	ENST00000397910	T	0.02421	4.3	3.94	-0.726	0.11170	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.13145	0.007	B	0.08055	0.003	T	0.42865	-0.9426	8	0.87932	D	0	.	3.7964	0.08741	0.0:0.487:0.1816:0.3314	.	10405	B5ME49	.	I	10405	ENSP00000381008:V10405I	ENSP00000381008:V10405I	V	-	1	0	MUC16	8917233	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.257000	0.02866	-0.025000	0.13918	-0.778000	0.03378	GTT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9056233	C	T	9056233	3	4	107	1	0	0	0	0	1	0	0	0	9973	536	19	1	12638	1	MUC16	19	9056233	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	908076	9056233	50072750	58	7363											
OLFM2	93145	broad.mit.edu	37	chr19	9965148	9965148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggtagccggtgtcccagGaccgcatgacctcgagggtg	6	7	17	11	3	0	1	0	1	0	0	2	3	1	2	4	5	1	2	4	5	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9965148G>A	ENST00000264833.4	-	6	1264	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	OLFM2_ENST00000590841.1_Missense_Mutation_p.S282F|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	360	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGTCCCAGGACCGCATGAC	0.657																																						uc002mmp.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1078-1080)tCc>tTc		Homo sapiens olfactomedin 2 (OLFM2), mRNA.							79	73	75					19																	9965148		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965148G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1079C>T	19.37:g.9965148G>A	ENSP00000264833:p.Ser360Phe						p.S360F	NM_058164	NP_477512	O95897	NOE2_HUMAN			5	1107	-			360			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1079C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848413	0.71603	.	.	ENSG00000105088	ENST00000264833	D	0.89485	-2.52	4.36	4.36	0.52297	Olfactomedin-like (3);	0.064020	0.64402	D	0.000012	D	0.93844	0.8031	M	0.81802	2.56	0.41503	D	0.988295	D	0.64830	0.994	D	0.71184	0.972	D	0.94158	0.7412	9	.	.	.	.	14.4229	0.67196	0.0:0.0:1.0:0.0	.	360	O95897	NOE2_HUMAN	F	360	ENSP00000264833:S360F	.	S	-	2	0	OLFM2	9826148	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.752000	0.38349	2.239000	0.73571	0.561000	0.74099	TCC		0.657	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			A	9965148	G	A	9965148	3	1	107	1	0	0	0	0	1	0	0	0	10853	1174	41	3	289	3	OLFM2	19	9965148	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	908915	9965148	49163835	59	7364											
CYP4F11	57834	broad.mit.edu	37	chr19	16025652	16025652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggactgggggatgcaacCgcaggctctccttaatgcac	8	7	13	13	2	1	0	0	0	1	0	2	2	1	2	3	4	3	4	3	4	2	1	rs201684723		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:16025652C>T	ENST00000402119.4	-	9	1595	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CYP4F11_ENST00000591841.1_Missense_Mutation_p.R65Q|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R390Q|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R390Q	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGATGCAACCGCAGGCTCTC	0.592																																						uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1168-1170)cGg>cAg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.							90	92	92					19																	16025652		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025652C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1169G>A	19.37:g.16025652C>T	ENSP00000384588:p.Arg390Gln					CYP4F11_uc010eab.1_Missense_Mutation_p.R390Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.R390Q	p.R390Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN			9	1205	-			390						Missense_Mutation	SNP	ENST00000402119.4	37	c.1169G>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	19.83	3.899934	0.72754	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.97480	-4.4;-4.4;-4.4	2.74	1.69	0.24217	.	0.000000	0.64402	U	0.000003	D	0.98957	0.9645	H	0.99454	4.575	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.97297	0.9928	10	0.87932	D	0	.	7.7512	0.28898	0.0:0.865:0.0:0.135	.	390;390	F8W978;Q9HBI6	.;CP4FB_HUMAN	Q	390	ENSP00000384588:R390Q;ENSP00000248041:R390Q;ENSP00000319859:R390Q	ENSP00000248041:R390Q	R	-	2	0	CYP4F11	15886652	1.000000	0.71417	0.325000	0.25375	0.044000	0.14063	5.244000	0.65400	0.473000	0.27368	-0.369000	0.07265	CGG		0.592	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		T	16025652	C	T	16025652	3	4	107	1	0	0	0	0	1	0	0	0	4186	652	23	2	421	2	CYP4F11	19	16025652	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	6060504	16025652	43103331	60	7365											
ZNF302	55900	broad.mit.edu	37	chr19	35175342	35175342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcattcaaagtctactCtttctgaaccacaaaacaat	14	13	2	12	0	5	1	2	1	3	0	5	1	5	1	2	0	3	0	2	0	6	4	rs527508448		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:35175342C>G	ENST00000446502.2	+	6	740	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V	ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.L134V|ZNF302_ENST00000457781.2_Missense_Mutation_p.L134V|ZNF302_ENST00000505242.1_Missense_Mutation_p.L134V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGTCTACTCTTTCTGAACC	0.274																																						uc002nvr.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(532-534)Ctt>Gtt		Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.							35	36	36					19																	35175342		2102	4247	6349	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175342C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.532C>G	19.37:g.35175342C>G	ENSP00000396379:p.Leu178Val					ZNF302_uc002nvp.1_Missense_Mutation_p.L134V|ZNF302_uc002nvq.1_Missense_Mutation_p.L134V|ZNF302_uc002nvs.1_Missense_Mutation_p.L134V	p.L178V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	795	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		213					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.532C>G		.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074627	0.07184	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.05139	3.52;3.52;5.79;3.52;3.49	1.15	-1.17	0.09648	.	.	.	.	.	T	0.07503	0.0189	M	0.69523	2.12	0.09310	N	1	B;P	0.35575	0.018;0.51	B;B	0.32864	0.025;0.154	T	0.20174	-1.0283	9	0.56958	D	0.05	.	5.2539	0.15537	0.0:0.611:0.0:0.389	.	178;134	E7EVR1;Q9NR11-2	.;.	V	134;134;134;134;178	ENSP00000391067:L134V;ENSP00000421028:L134V;ENSP00000421696:L134V;ENSP00000405219:L134V;ENSP00000396379:L178V	ENSP00000405219:L134V	L	+	1	0	ZNF302	39867182	0.000000	0.05858	0.156000	0.22583	0.022000	0.10575	-0.628000	0.05515	-0.339000	0.08401	0.467000	0.42956	CTT		0.274	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			G	35175342	C	G	35175342	3	3	107	1	0	0	0	0	1	0	0	0	17829	913	32	5	414	5	ZNF302	19	35175342	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	19149690	35175342	23953641	61	7366											
SHKBP1	92799	broad.mit.edu	37	chr19	41083170	41083170	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccagactctcacctggatCccagactccttcttctccag	7	10	6	18	1	3	2	1	0	3	2	7	3	5	3	5	1	0	0	5	1	0	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:41083170C>A	ENST00000291842.5	+	2	169	c.120C>A	c.(118-120)atC>atA	p.I40I	SHKBP1_ENST00000600733.1_Silent_p.I40I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	40	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCTGGATCCCAGACTCCT	0.617																																						uc002oob.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(118-120)atC>atA		Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.							106	88	94					19																	41083170		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41083170C>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.120C>A	19.37:g.41083170C>A						SHKBP1_uc002ooc.3_Silent_p.I40I|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	p.I40I	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	169	+			40			BTB.		Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.120C>A	CCDS12560.1																																																																																				0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		A	41083170	C	A	41083170	2	1	107	1	0	0	0	0	0	0	0	1	14284	845	30	5		5	SHKBP1	19	41083170	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	5907828	41083170	18045813	62	7367											
SBK2	646643	broad.mit.edu	37	chr19	56047476	56047476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggacgcacttcctcGtagagctcgtccacctcggc	6	7	11	17	4	0	1	0	0	0	1	5	2	2	2	4	3	1	3	4	3	1	2	rs367873141		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:56047476G>A	ENST00000413299.1	-	2	223	c.186C>T	c.(184-186)taC>taT	p.Y62Y	SBK2_ENST00000344158.3_Silent_p.Y62Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACTTCCTCGTAGAGCTCGT	0.652																																						uc010ygc.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(184-186)taC>taT		Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.		G		0,4224		0,0,2112	33	38	36		186	2.2	0.8	19		36	1,8415		0,1,4207	no	coding-synonymous	SBK2	NM_001101401.2		0,1,6319	AA,AG,GG		0.0119,0.0,0.0079		62/349	56047476	1,12639	2112	4208	6320	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047476G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.186C>T	19.37:g.56047476G>A							p.Y62Y	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			1	201	-			62			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.186C>T	CCDS42631.1																																																																																				0.652	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		A	56047476	G	A	56047476	2	1	107	1	0	0	0	0	0	0	0	1	13861	1140	40	1		1	SBK2	19	56047476	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	14964306	56047476	3081507	63	7368											
ADAM33	80332	broad.mit.edu	37	chr20	3655285	3655285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtccttggagccccGgggtggccagggacgcagat	8	6	17	10	2	0	2	0	1	0	2	1	5	1	4	4	5	1	1	4	5	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:3655285G>A	ENST00000356518.2	-	6	707	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000379861.4_Missense_Mutation_p.R156W|ADAM33_ENST00000350009.2_Missense_Mutation_p.R156W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	156					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGGAGCCCCGGGGTGGCCAG	0.607																																						uc002wit.3																			0		p.P155P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(466-468)Cgg>Tgg		Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.							77	90	85					20																	3655285		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655285G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.466C>T	20.37:g.3655285G>A	ENSP00000348912:p.Arg156Trp					ADAM33_uc002wir.1_Missense_Mutation_p.R156W|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.R156W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R168W|ADAM33_uc010zqh.1_Missense_Mutation_p.R156W	p.R156W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			5	553	-			156					A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.466C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085724	0.36758	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.06142	3.34;3.34;3.34	4.98	1.78	0.24846	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.11281	0.0275	N	0.19112	0.55	0.21527	N	0.999659	D;D;D;D;D	0.67145	0.996;0.966;0.976;0.98;0.98	D;P;P;P;P	0.68765	0.96;0.72;0.599;0.72;0.72	T	0.24368	-1.0162	9	0.87932	D	0	.	9.6225	0.39730	0.0:0.6413:0.2787:0.08	.	156;168;156;156;156	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	W	156	ENSP00000348912:R156W;ENSP00000369190:R156W;ENSP00000322550:R156W	ENSP00000322550:R156W	R	-	1	2	ADAM33	3603285	0.000000	0.05858	0.011000	0.14972	0.007000	0.05969	-0.292000	0.08332	0.803000	0.34113	-0.165000	0.13383	CGG		0.607	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		A	3655285	G	A	3655285	3	1	107	1	0	0	0	0	1	0	0	0	250	1115	39	2	2043	2	ADAM33	20	3655285	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		3655285	59370235	64	7369											
CHGB	1114	broad.mit.edu	37	chr20	5904558	5904558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgagaagagaaacctcGccagggtccccaagctggac	12	5	13	11	1	0	2	0	1	0	2	2	5	1	3	4	3	2	2	4	3	4	1	rs148235020		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:5904558G>A	ENST00000378961.4	+	4	1972	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	590						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAAACCTCGCCAGGGTCCC	0.498																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1768-1770)Gcc>Acc		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.		G	THR/ALA	0,4406		0,0,2203	44	43	43		1768	-3	0	20	dbSNP_134	43	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHGB	NM_001819.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	590/678	5904558	2,13004	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904558G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1768G>A	20.37:g.5904558G>A	ENSP00000368244:p.Ala590Thr					CHGB_uc010zqz.2_Missense_Mutation_p.A273T	p.A590T	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	2074	+			590					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1768G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212732	0.39102	0.0	2.33E-4	ENSG00000089199	ENST00000378961	T	0.01804	4.63	5.79	-2.98	0.05513	.	0.935397	0.08957	N	0.869218	T	0.01592	0.0051	N	0.25647	0.755	0.09310	N	1	P	0.51653	0.947	B	0.43889	0.435	T	0.49021	-0.8982	10	0.49607	T	0.09	-0.1548	5.6767	0.17753	0.1719:0.4561:0.2788:0.0931	.	590	P05060	SCG1_HUMAN	T	590	ENSP00000368244:A590T	ENSP00000368244:A590T	A	+	1	0	CHGB	5852558	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-0.002000	0.12924	-0.139000	0.11414	0.561000	0.74099	GCC		0.498	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		A	5904558	G	A	5904558	3	1	107	1	0	0	0	0	1	0	0	0	3339	1087	38	1	1782	1	CHGB	20	5904558	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	2249273	5904558	57120962	65	7370											
PAK7	57144	broad.mit.edu	37	chr20	9543605	9543605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaccacccagagctcatCgccgacaaggtagctgctgt	10	7	10	14	2	1	2	1	1	0	1	2	3	1	2	3	1	3	4	3	1	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:9543605C>T	ENST00000378429.3	-	7	2095	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PAK7_ENST00000378423.1_Missense_Mutation_p.D517N|PAK7_ENST00000353224.5_Missense_Mutation_p.D517N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGAGCTCATCGCCGACAAGG	0.478																																						uc002wnl.2																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1549-1551)Gat>Aat		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.							176	159	165					20																	9543605		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9543605C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1549G>A	20.37:g.9543605C>T	ENSP00000367686:p.Asp517Asn					PAK7_uc002wnk.2_Missense_Mutation_p.D517N|PAK7_uc002wnj.2_Missense_Mutation_p.D517N|PAK7_uc010gby.1_Missense_Mutation_p.D517N	p.D517N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	2094	-			517			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1549G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666442	0.96745	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.13538	2.58;2.58;2.58	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	N	0.03967	-0.31	0.80722	D	1	P;P	0.46621	0.881;0.881	P;P	0.55577	0.779;0.779	T	0.42137	-0.9469	9	.	.	.	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	517;517	B0AZM9;Q9P286	.;PAK7_HUMAN	N	517;517;517;465	ENSP00000367686:D517N;ENSP00000322957:D517N;ENSP00000367679:D517N	.	D	-	1	0	PAK7	9491605	1.000000	0.71417	0.967000	0.41034	0.900000	0.52787	7.788000	0.85771	2.840000	0.97914	0.655000	0.94253	GAT		0.478	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			T	9543605	C	T	9543605	3	4	107	1	0	0	0	0	1	0	0	0	11405	884	31	2	630	2	PAK7	20	9543605	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	3639047	9543605	53481915	66	7371											
COL20A1	57642	broad.mit.edu	37	chr20	61959711	61959711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttcgactccttccaCgagaacaccaggccccccat	11	7	6	17	2	1	1	1	0	0	1	4	3	3	1	6	1	1	1	6	1	2	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:61959711C>T	ENST00000358894.6	+	34	3742	c.3642C>T	c.(3640-3642)caC>caT	p.H1214H	COL20A1_ENST00000422202.1_Silent_p.H1227H|COL20A1_ENST00000326996.6_Silent_p.H1246H|COL20A1_ENST00000435874.1_Silent_p.H1227H	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1214					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACTCCTTCCACGAGAACACCA	0.672																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3640-3642)caC>caT		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							33	37	36					20																	61959711		2036	4164	6200	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959711C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3642C>T	20.37:g.61959711C>T						COL20A1_uc011aav.2_Silent_p.H1041H	p.H1214H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			33	3742	+	all_cancers(38;1.39e-10)		1214					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3642C>T	CCDS46628.1																																																																																				0.672	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61959711	C	T	61959711	2	4	107	1	0	0	0	0	0	0	0	1	3679	535	19	1		1	COL20A1	20	61959711	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	52416106	61959711	1065809	67	7372											
CLDN14	23562	broad.mit.edu	37	chr21	37833779	37833779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggtcttggggcagcGccagcagggatcggtagatc	7	7	17	10	2	1	1	0	0	1	1	3	3	1	3	2	6	2	3	2	6	1	2	rs573588226	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr21:37833779G>A	ENST00000399137.1	-	3	1081	c.215C>T	c.(214-216)gCg>gTg	p.A72V	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.A72V|CLDN14_ENST00000399136.1_Missense_Mutation_p.A72V|CLDN14_ENST00000399139.1_Missense_Mutation_p.A72V|CLDN14_ENST00000342108.2_Missense_Mutation_p.A72V|AP000695.4_ENST00000428667.1_RNA|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	72					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TTGGGGCAGCGCCAGCAGGGA	0.632													G|||	2	0.000399361	0	0	5008	,	,		19004	0.002		0	False		,,,				2504	0					uc021wja.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(214-216)gCg>gTg		Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.							54	39	44					21																	37833779		2203	4300	6503	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833779G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.215C>T	21.37:g.37833779G>A	ENSP00000382090:p.Ala72Val					CLDN14_uc002yvn.1_Missense_Mutation_p.A72V|CLDN14_uc002yvo.1_Missense_Mutation_p.A72V|CLDN14_uc002yvk.1_Missense_Mutation_p.A72V|CLDN14_uc002yvl.1_Missense_Mutation_p.A72V|CLDN14_uc002yvm.1_Missense_Mutation_p.A72V	p.A72V	NM_144492	NP_652763	O95500	CLD14_HUMAN			0	215	-			72						Missense_Mutation	SNP	ENST00000399137.1	37	c.215C>T	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449065	0.84101	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.95485	0.8564	10	0.62326	D	0.03	.	19.4626	0.94924	0.0:0.0:1.0:0.0	.	72	O95500	CLD14_HUMAN	V	72	ENSP00000382092:A72V;ENSP00000382090:A72V;ENSP00000382087:A72V;ENSP00000382088:A72V;ENSP00000339292:A72V	ENSP00000339292:A72V	A	-	2	0	CLDN14	36755649	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.504000	0.73704	2.584000	0.87258	0.462000	0.41574	GCG		0.632	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		A	37833779	G	A	37833779	3	1	107	1	0	0	0	0	1	0	0	0	3475	1087	38	1	508	1	CLDN14	21	37833779	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		37833779	10296116	68	7373											
YWHAH	7533	broad.mit.edu	37	chr22	32352631	32352631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagcctgcctcttagccaAacaagccttcgatgatgcca	11	8	8	14	1	1	1	0	1	1	0	2	2	1	1	5	0	6	1	5	0	4	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr22:32352631A>G	ENST00000248975.5	+	2	866	c.593A>G	c.(592-594)aAa>aGa	p.K198R	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	198					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CTCTTAGCCAAACAAGCCTTC	0.537																																					Ovarian(98;460 2060 9263 44007)	uc003alz.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(592-594)aAa>aGa		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.							69	54	59					22																	32352631		2203	4300	6503	SO:0001583	missense	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352631A>G	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.593A>G	22.37:g.32352631A>G	ENSP00000248975:p.Lys198Arg					YWHAH_uc003ama.3_Missense_Mutation_p.K128R|YWHAH_uc010gwm.3_Missense_Mutation_p.K185R	p.K198R	NM_003405	NP_003396	Q04917	1433F_HUMAN			1	834	+			198						Missense_Mutation	SNP	ENST00000248975.5	37	c.593A>G	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553078	0.65425	.	.	ENSG00000128245	ENST00000248975	T	0.51071	0.72	5.95	4.89	0.63831	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.77406	2.37	0.80722	D	1	P;P	0.41546	0.643;0.754	B;B	0.44133	0.425;0.442	T	0.59894	-0.7368	10	0.87932	D	0	-23.9432	12.3441	0.55111	0.8588:0.1412:0.0:0.0	.	198;198	B2R6N6;Q04917	.;1433F_HUMAN	R	198	ENSP00000248975:K198R	ENSP00000248975:K198R	K	+	2	0	YWHAH	30682631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	1.026000	0.39733	0.533000	0.62120	AAA		0.537	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		G	32352631	A	G	32352631	3	3	107	1	0	0	0	0	1	0	0	0	17501	14	1	4	599	4	YWHAH	22	32352631	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08		32352631	18951935	69	7374											
FRMPD4	9758	broad.mit.edu	37	chrX	12516825	12516825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagtcttcaggctggcCgcctccctcgggaacctggg	6	7	14	14	3	2	0	1	0	1	0	4	3	3	1	4	4	1	1	4	4	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:12516825C>T	ENST00000380682.1	+	2	574	c.68C>T	c.(67-69)cCg>cTg	p.P23L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	23					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGGCTGGCCGCCTCCCTCG	0.512																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(67-69)cCg>cTg		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							50	51	51					X																	12516825		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12516825C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.68C>T	X.37:g.12516825C>T	ENSP00000370057:p.Pro23Leu					FRMPD4_uc011mij.2_Missense_Mutation_p.P15L	p.P23L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			1	574	+			23					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.68C>T	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550999	0.45383	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05786	3.39	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000003	T	0.09818	0.0241	N	0.10945	0.07	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.17684	-1.0361	10	0.02654	T	1	.	18.0731	0.89417	0.0:1.0:0.0:0.0	.	15;23	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	L	23;14;12	ENSP00000370057:P23L	ENSP00000304583:P12L	P	+	2	0	FRMPD4	12426746	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.680000	0.74518	2.292000	0.77174	0.600000	0.82982	CCG		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12516825	C	T	12516825	3	4	107	1	0	0	0	0	1	0	0	0	6059	652	23	2	74	2	FRMPD4	23	12516825	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		12516825	142753735	70	7375											
CDKL5	6792	broad.mit.edu	37	chrX	18622187	18622187	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttagtccactgcacacCaaaacctaccaagcaagcag	15	6	6	14	0	1	0	0	0	1	0	2	0	2	0	4	0	5	3	4	0	6	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:18622187C>A	ENST00000379989.3	+	13	1428	c.1143C>A	c.(1141-1143)acC>acA	p.T381T	CDKL5_ENST00000379996.3_Silent_p.T381T|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	381					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTGCACACCAAAACCTACC	0.507																																						uc004cym.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1141-1143)acC>acA		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							156	149	152					X																	18622187		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622187C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1143C>A	X.37:g.18622187C>A						CDKL5_uc004cyn.3_Silent_p.T381T|CDKL5_uc022btn.1_Silent_p.T372T	p.T381T	NM_003159	NP_003150	O76039	CDKL5_HUMAN			11	1396	+	Hepatocellular(33;0.183)		381					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.1143C>A	CCDS14186.1																																																																																				0.507	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		A	18622187	C	A	18622187	2	1	107	1	0	0	0	0	0	0	0	1	3157	581	21	5		5	CDKL5	23	18622187	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	6105362	18622187	136648373	71	7376											
SYP	6855	broad.mit.edu	37	chrX	49048188	49048188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacgaaccacaggttgccGacccagagcaccaggttcag	13	4	10	14	2	1	1	1	0	0	1	1	3	1	1	4	2	4	3	4	2	2	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49048188G>A	ENST00000263233.4	-	6	720	c.648C>T	c.(646-648)gtC>gtT	p.V216V	SYP_ENST00000479808.1_Silent_p.V216V|SYP_ENST00000538567.1_Silent_p.V98V	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	216	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACAGGTTGCCGACCCAGAGCA	0.677																																						uc004dmz.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15						c.(646-648)gtC>gtT		Homo sapiens synaptophysin (SYP), mRNA.							8	9	9					X																	49048188		1859	3781	5640	SO:0001819	synonymous_variant	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49048188G>A	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.648C>T	X.37:g.49048188G>A						SYP_uc011mmz.1_Silent_p.V98V	p.V216V	NM_003179	NP_003170	P08247	SYPH_HUMAN			5	664	-		all_lung(315;0.00016)	216			MARVEL.		B2R7L6|B7Z359|Q6P2F7	Silent	SNP	ENST00000263233.4	37	c.648C>T	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700908	0.30142	.	.	ENSG00000102003	ENST00000472598	.	.	.	5.5	0.465	0.16711	.	.	.	.	.	T	0.51770	0.1694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	-27.5924	6.1082	0.20086	0.3437:0.4494:0.2069:0.0	.	.	.	.	L	106	.	.	S	-	2	0	SYP	48935132	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-1.307000	0.02733	0.239000	0.21243	0.600000	0.82982	TCG		0.677	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		A	49048188	G	A	49048188	2	1	107	1	0	0	0	0	0	0	0	1	15458	1045	37	2		2	SYP	23	49048188	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	30426001	49048188	106222372	72	7377											
FOXP3	50943	broad.mit.edu	37	chrX	49112252	49112252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccagaagatggtccGcctggcagtgcctaagtagg	9	9	12	11	1	1	2	1	0	1	2	4	2	3	2	4	3	1	2	4	3	3	2	rs2232369		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49112252G>A	ENST00000376207.4	-	7	846	c.659C>T	c.(658-660)gCg>gTg	p.A220V	FOXP3_ENST00000455775.2_Missense_Mutation_p.A220V|FOXP3_ENST00000518685.1_Missense_Mutation_p.A185V|FOXP3_ENST00000376199.2_Missense_Mutation_p.A185V|FOXP3_ENST00000376197.1_Missense_Mutation_p.A170V|FOXP3_ENST00000557224.1_Missense_Mutation_p.A185V	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	220					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AAGATGGTCCGCCTGGCAGTG	0.587																																					GBM(182;1432 2112 16160 23073 31774)	uc004dnf.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(658-660)gCg>gTg		Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.							100	67	78					X																	49112252		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49112252G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.659C>T	X.37:g.49112252G>A	ENSP00000365380:p.Ala220Val					FOXP3_uc011mnb.2_Missense_Mutation_p.A243V|FOXP3_uc011mnc.2_Missense_Mutation_p.A220V|FOXP3_uc004dne.4_Missense_Mutation_p.A185V|FOXP3_uc022bwa.1_Missense_Mutation_p.A170V	p.A220V	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			6	847	-	Ovarian(276;0.236)		220					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.659C>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	G	4.023	0.001646	0.07819	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.79	0.212	0.15240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.423005	0.20551	N	0.090104	T	0.71617	0.3361	L	0.38531	1.155	0.09310	N	1	B;B;B;B;B	0.22211	0.004;0.002;0.066;0.004;0.007	B;B;B;B;B	0.13407	0.001;0.002;0.009;0.001;0.003	T	0.59091	-0.7519	10	0.49607	T	0.09	.	1.6527	0.02775	0.1876:0.1221:0.4146:0.2758	rs2232369;rs2232369	220;243;185;220;185	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	V	220;185;185;185;170;220	ENSP00000365380:A220V;ENSP00000365372:A185V;ENSP00000451208:A185V;ENSP00000428952:A185V;ENSP00000365369:A170V;ENSP00000396415:A220V	ENSP00000365369:A170V	A	-	2	0	FOXP3	48999196	0.015000	0.18098	0.444000	0.26895	0.117000	0.20001	0.790000	0.26900	-0.009000	0.14296	-0.313000	0.08912	GCG		0.587	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		A	49112252	G	A	49112252	3	1	107	1	0	0	0	0	1	0	0	0	6028	1087	38	1	660	1	FOXP3	23	49112252	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	64064	49112252	106158308	73	7378											
ITIH5L	347365	broad.mit.edu	37	chrX	54777784	54777784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccggccttggtggtgCgccaagcagcttcccactca	5	8	13	15	2	1	0	1	0	0	0	2	0	2	0	4	4	3	2	4	4	1	2	rs146825535		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:54777784C>T	ENST00000218436.6	-	12	3411	c.3382G>A	c.(3382-3384)Gca>Aca	p.A1128T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1128					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTGGTGGTGCGCCAAGCAGC	0.592																																						uc004dtj.2																			0											c.(3382-3384)Gca>Aca		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.		C	THR/ALA	2,3833		0,2,1630,571	55	47	50		3382	2.7	1	X	dbSNP_134	50	0,6728		0,0,2428,1872	no	missense	ITIH5L	NM_198510.2	58	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging	1128/1314	54777784	2,10561	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777784C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3382G>A	X.37:g.54777784C>T	ENSP00000218436:p.Ala1128Thr						p.A1128T	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			11	3412	-			1128					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3382G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587121	0.66105	5.22E-4	0.0	ENSG00000102313	ENST00000218436	T	0.13089	2.62	3.58	2.68	0.31781	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.741838	0.11894	N	0.519326	T	0.14270	0.0345	M	0.64404	1.975	0.26138	N	0.980317	P	0.45902	0.868	B	0.37091	0.241	T	0.11324	-1.0592	10	0.59425	D	0.04	.	8.9274	0.35650	0.0:0.8744:0.0:0.1256	.	1128	Q6UXX5	ITH5L_HUMAN	T	1128	ENSP00000218436:A1128T	ENSP00000218436:A1128T	A	-	1	0	ITIH5L	54794509	0.989000	0.36119	0.964000	0.40570	0.763000	0.43281	2.912000	0.48782	0.341000	0.23771	0.287000	0.19450	GCA		0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54777784	C	T	54777784	3	4	107	1	0	0	0	0	1	0	0	0	7908	768	27	1	567	1	ITIH5L	23	54777784	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	5665532	54777784	100492776	74	7379											
TEX11	56159	broad.mit.edu	37	chrX	69825267	69825267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgttcaaaagctgttGaagcttttctcccttgctct	7	17	6	11	0	3	1	1	1	2	0	4	1	3	1	2	0	4	5	2	0	4	6			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:69825267G>T	ENST00000395889.2	-	25	2251	c.2096C>A	c.(2095-2097)tCa>tAa	p.S699*	TEX11_ENST00000374320.2_Nonsense_Mutation_p.S374*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.S684*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.S699*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	699					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAAGCTGTTGAAGCTTTTCT	0.388																																						uc004dyl.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2095-2097)tCa>tAa		Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.							123	104	111					X																	69825267		2203	4300	6503	SO:0001587	stop_gained	56159						protein binding	g.chrX:69825267G>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2096C>A	X.37:g.69825267G>T	ENSP00000379226:p.Ser699*					TEX11_uc004dyk.3_Nonsense_Mutation_p.S374*|TEX11_uc004dym.3_Nonsense_Mutation_p.S684*	p.S699*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			24	2258	-	Renal(35;0.156)		699					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.2096C>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	38	6.860414	0.97893	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	4.83	3.06	0.35304	.	0.746071	0.12355	N	0.476157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	6.5366	0.22357	0.2232:0.0:0.7768:0.0	.	.	.	.	X	684;699;374;699	.	.	S	-	2	0	TEX11	69741992	0.994000	0.37717	0.810000	0.32431	0.989000	0.77384	2.652000	0.46682	0.473000	0.27368	0.544000	0.68410	TCA		0.388	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			T	69825267	G	T	69825267	4	4	107	1	0	0	0	0	0	1	0	0	15771	1294	45	5	754	5	TEX11	23	69825267	Nonsense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	15047483	69825267	85445293	75	7380											
IL9R	3581	broad.mit.edu	37	chrX	155239824	155239824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcaacaacaactactgtgcct	15	4	8	14	0	0	0	0	0	0	0	0	0	0	0	1	0	12	6	1	0	5	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:155239824A>G	ENST00000244174.5	+	9	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.N418S	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	439	Poly-Asn.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642													a|||	711	0.141973	0.0825	0.085	5008	,	,		13060	0.0883		0.1491	False		,,,				2504	0.3108					uc004fnv.1																			1	Substitution - Missense(1)	p.N439S(2)	kidney(1)	NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1315-1317)aAc>aGc		Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.							7	14	12					X																	155239824		2081	4221	6302	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239824A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1316A>G	X.37:g.155239824A>G	ENSP00000244174:p.Asn439Ser					IL9R_uc004fnu.1_3'UTR	p.N439S	NM_002186	NP_002177	Q01113	IL9R_HUMAN			8	1495	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		439			Poly-Asn.		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1316A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	a	1.685	-0.505533	0.04261	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10192	2.9;2.9	.	.	.	.	3.894160	0.00911	N	0.002464	T	0.04634	0.0126	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27054	-1.0085	5	0.18710	T	0.47	.	.	.	.	.	439	Q01113	IL9R_HUMAN	S	439;418	ENSP00000244174:N439S;ENSP00000388918:N418S	ENSP00000244174:N439S	N	+	2	0	IL9R	154893018	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	-1.580000	0.02121	-1.735000	0.01353	-1.704000	0.00719	AAC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		G	155239824	A	G	155239824	3	3	107	1	0	0	0	0	1	0	0	0	7708	43	2	4	1350	4	IL9R	23	155239824	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	85414557	155239824	30736	76	7381											
ZBTB17	7709	broad.mit.edu	37	chr1	16268633	16268633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagaagtccgcgtctgtcTggaacatgaccagtgcctgg	9	9	13	10	2	2	2	0	1	2	1	3	4	3	3	3	2	2	0	3	2	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:16268633T>C	ENST00000375743.4	-	16	2475	c.2243A>G	c.(2242-2244)cAg>cGg	p.Q748R	ZBTB17_ENST00000375733.2_Missense_Mutation_p.Q755R|ZBTB17_ENST00000537142.1_Missense_Mutation_p.Q666R	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	748	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGTCTGTCTGGAACATGAC	0.627																																						uc001axl.4																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(2242-2244)cAg>cGg		Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.							78	68	72					1																	16268633		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16268633T>C	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2243A>G	1.37:g.16268633T>C	ENSP00000364895:p.Gln748Arg					ZBTB17_uc010obs.2_Missense_Mutation_p.Q672R|ZBTB17_uc010obq.2_Missense_Mutation_p.Q666R|ZBTB17_uc010obr.2_Missense_Mutation_p.Q755R	p.Q748R	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	15	2482	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	748			Interaction with HCFC1.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.2243A>G	CCDS165.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399177	0.83120	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.17691	2.46;2.49;2.26	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	L	0.32530	0.975	0.80722	D	1	D;D;P	0.63046	0.992;0.992;0.596	D;D;B	0.72982	0.979;0.979;0.26	T	0.02743	-1.1116	10	0.49607	T	0.09	.	14.482	0.67590	0.0:0.0:0.0:1.0	.	755;666;748	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	R	748;755;667;666	ENSP00000364895:Q748R;ENSP00000364885:Q755R;ENSP00000438529:Q666R	ENSP00000364885:Q755R	Q	-	2	0	ZBTB17	16141220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.917000	0.63369	1.877000	0.54381	0.460000	0.39030	CAG		0.627	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		C	16268633	T	C	16268633	3	2	108	1	0	0	0	0	1	0	0	0	17524	1580	55	4	172	4	ZBTB17	1	16268633	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08		16268633	232981988	1	7382											
WDR63	126820	broad.mit.edu	37	chr1	85595746	85595746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcgcaaaaaaattcGtgagcaagaaaagaaagaaa	24	3	9	5	2	0	5	0	1	0	4	1	5	0	5	0	0	3	2	0	0	9	1	rs199645222		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:85595746G>A	ENST00000294664.6	+	22	2663	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	WDR63_ENST00000326813.8_Missense_Mutation_p.R789H|WDR63_ENST00000370596.1_Missense_Mutation_p.R789H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	828										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAAAAATTCGTGAGCAAGAA	0.363													G|||	1	0.000199681	0	0	5008	,	,		18490	0.001		0	False		,,,				2504	0					uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2482-2484)cGt>cAt		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							91	100	97					1																	85595746		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85595746G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2483G>A	1.37:g.85595746G>A	ENSP00000294664:p.Arg828His					WDR63_uc009wcl.3_Missense_Mutation_p.R789H	p.R828H	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	21	2674	+			828					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2483G>A	CCDS702.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.54	1.967420	0.34754	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.43	4.52	0.55395	.	0.207201	0.42053	D	0.000774	T	0.31765	0.0807	M	0.66439	2.03	0.40126	D	0.976663	P;P	0.50943	0.94;0.901	P;B	0.45610	0.487;0.313	T	0.15150	-1.0447	10	0.41790	T	0.15	-16.1661	11.3786	0.49743	0.1496:0.0:0.8504:0.0	.	789;828	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	H	789;789;828;110	ENSP00000359628:R789H;ENSP00000317463:R789H;ENSP00000294664:R828H;ENSP00000435544:R110H	ENSP00000294664:R828H	R	+	2	0	WDR63	85368334	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	5.178000	0.65037	1.296000	0.44742	-0.140000	0.14226	CGT		0.363	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85595746	G	A	85595746	3	1	108	1	0	0	0	0	1	0	0	0	17311	1145	40	1	2565	1	WDR63	1	85595746	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	69327113	85595746	163654875	2	7383											
NUP210L	91181	broad.mit.edu	37	chr1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctggatgatttccaattCggaatgtgagaacctttaag	12	12	9	8	1	0	2	0	2	0	1	2	5	1	4	3	2	1	0	3	2	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2200-2202)cGa>cAa		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							77	77	77					1																	154062057		1892	4122	6014	SO:0001583	missense	91181					integral to membrane		g.chr1:154062057C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2201G>A	1.37:g.154062057C>T	ENSP00000357547:p.Arg734Gln					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.R734Q	p.R734Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2273	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2201G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244852	0.22796	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.22945	1.93;1.93	4.57	1.51	0.23008	.	0.150747	0.30752	N	0.008943	T	0.07098	0.0180	L	0.47716	1.5	0.38637	D	0.951515	B;B	0.13594	0.003;0.008	B;B	0.08055	0.003;0.003	T	0.19976	-1.0289	10	0.14656	T	0.56	-27.8864	7.693	0.28579	0.0:0.6275:0.0:0.3725	.	734;734	E7EP56;Q5VU65	.;P210L_HUMAN	Q	734	ENSP00000357547:R734Q;ENSP00000271854:R734Q	ENSP00000271854:R734Q	R	-	2	0	NUP210L	152328681	0.635000	0.27199	0.958000	0.39756	0.942000	0.58702	-0.037000	0.12164	0.129000	0.18514	-0.444000	0.05651	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154062057	C	T	154062057	3	4	108	1	0	0	0	0	1	0	0	0	10761	884	31	2	3565	2	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	68466311	154062057	95188564	3	7384											
TAGLN2	8407	broad.mit.edu	37	chr1	159889092	159889092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagttgggatccccagagaAgagcccatcatctcgggcta	10	7	11	13	1	2	2	1	0	1	2	4	4	3	3	4	2	1	2	4	2	2	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:159889092A>G	ENST00000368097.4	-	4	740	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L	TAGLN2_ENST00000320307.4_Missense_Mutation_p.F144L|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.F165L	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	144					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCCAGAGAAGAGCCCATCA	0.547																																						uc001fun.1																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(430-432)Ttc>Ctc		Homo sapiens transgelin 2 (TAGLN2), mRNA.							82	80	81					1																	159889092		2203	4300	6503	SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889092A>G	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"SM22-alpha homolog"	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.430T>C	1.37:g.159889092A>G	ENSP00000357077:p.Phe144Leu						p.F144L	NM_003564	NP_003555	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	503	-	all_hematologic(112;0.0597)		144					E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	c.430T>C	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997350	0.74818	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.56	4.56	0.56223	Calponin homology domain (2);	0.000000	0.46758	U	0.000279	T	0.20373	0.0490	L	0.41824	1.3	0.53005	D	0.999969	B	0.25235	0.121	B	0.30401	0.115	T	0.05716	-1.0868	9	.	.	.	-17.5782	12.1926	0.54280	1.0:0.0:0.0:0.0	.	144	P37802	TAGL2_HUMAN	L	144;165;144;144	ENSP00000357077:F144L;ENSP00000357076:F165L;ENSP00000357075:F144L;ENSP00000412429:F144L	.	F	-	1	0	TAGLN2	158155716	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.529000	0.90602	2.043000	0.60533	0.533000	0.62120	TTC		0.547	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		G	159889092	A	G	159889092	3	3	108	1	0	0	0	0	1	0	0	0	15536	72	3	4	177	4	TAGLN2	1	159889092	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	5827035	159889092	89361529	4	7385											
CD244	51744	broad.mit.edu	37	chr1	160811483	160811483	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccttgatgagaagactCaagttcttgactataaaact	13	12	8	8	0	2	4	1	3	1	2	2	5	2	4	1	0	2	2	1	0	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:160811483C>G	ENST00000368033.3	-	2	352	c.270G>C	c.(268-270)ttG>ttC	p.L90F	CD244_ENST00000322302.7_Missense_Mutation_p.L90F|CD244_ENST00000368032.2_Missense_Mutation_p.L90F|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.L90F			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	90	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAGAAGACTCAAGTTCTTGA	0.448																																						uc009wtq.3																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(268-270)ttG>ttC		Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.							85	81	82					1																	160811483		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811483C>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.270G>C	1.37:g.160811483C>G	ENSP00000357012:p.Leu90Phe					CD244_uc001fxa.3_Missense_Mutation_p.L90F|CD244_uc009wtr.3_Missense_Mutation_p.L90F|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	p.L90F	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		1	495	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		90			Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.270G>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	0.606	-0.827026	0.02734	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.36	-8.72	0.00845	Immunoglobulin subtype (1);Natural killer cell receptor 2B4 immunoglobulin domain (1);Immunoglobulin-like fold (1);	0.642064	0.12920	U	0.428238	T	0.03390	0.0098	N	0.04746	-0.17	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.004	B;B;B	0.20384	0.015;0.029;0.014	T	0.16364	-1.0405	10	0.21014	T	0.42	-0.1299	1.3125	0.02100	0.2851:0.2204:0.0909:0.4036	.	90;90;90	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	F	90	ENSP00000357013:L90F;ENSP00000357012:L90F;ENSP00000313619:L90F;ENSP00000357011:L90F	ENSP00000313619:L90F	L	-	3	2	CD244	159078107	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.305000	0.02738	-3.150000	0.00231	-1.909000	0.00523	TTG		0.448	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		G	160811483	C	G	160811483	3	3	108	1	0	0	0	0	1	0	0	0	2987	825	29	5	874	5	CD244	1	160811483	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	922391	160811483	88439138	5	7386											
HMCN1	83872	broad.mit.edu	37	chr1	186106708	186106708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatccaaaagaggagtcGtctgtgcaaccagccccttc	11	7	10	13	1	1	1	0	0	1	1	4	2	2	2	4	2	3	2	4	2	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:186106708G>A	ENST00000271588.4	+	88	13890	c.13661G>A	c.(13660-13662)cGt>cAt	p.R4554H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4554H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4554	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAGGAGTCGTCTGTGCAAC	0.488																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13660-13662)cGt>cAt		Homo sapiens hemicentin 1 (HMCN1), mRNA.							71	71	71					1																	186106708		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106708G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13661G>A	1.37:g.186106708G>A	ENSP00000271588:p.Arg4554His					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R123H	p.R4554H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			87	13890	+			4554			TSP type-1 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13661G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284133	0.95489	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92407	0.5934	10	0.62326	D	0.03	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	4554	Q96RW7	HMCN1_HUMAN	H	4554	ENSP00000271588:R4554H;ENSP00000356462:R4554H	ENSP00000271588:R4554H	R	+	2	0	HMCN1	184373331	1.000000	0.71417	0.998000	0.56505	0.779000	0.44077	7.588000	0.82629	2.729000	0.93468	0.650000	0.86243	CGT		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186106708	G	A	186106708	3	1	108	1	0	0	0	0	1	0	0	0	7220	1145	40	1	14011	1	HMCN1	1	186106708	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	25295225	186106708	63143913	6	7387											
IGFN1	91156	broad.mit.edu	37	chr1	201196177	201196177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggttcaagaatgacCgcagcctggaaggaaacccc	12	6	10	13	1	2	2	2	1	0	1	2	4	2	4	5	3	2	2	5	3	4	1	rs142381894	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:201196177C>T	ENST00000335211.4	+	23	11084	c.10954C>T	c.(10954-10956)Cgc>Tgc	p.R3652C	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1195						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAAGAATGACCGCAGCCTGGA	0.672													C|||	4	0.000798722	0	0	5008	,	,		17465	0.003		0	False		,,,				2504	0.001					uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10954-10956)Cgc>Tgc		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	53	58		10954	-1	0	1	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IGFN1	NM_001164586.1	180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	3652/3709	201196177	3,13003	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201196177C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10954C>T	1.37:g.201196177C>T	ENSP00000334714:p.Arg3652Cys					IGFN1_uc001gwb.3_Non-coding_Transcript	p.R3652C	NM_001164586	NP_001158058					22	11084	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10954C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.468868|1.468868	0.26335|0.26335	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211	.|T	.|0.68025	.|-0.3	5.06|5.06	-0.991|-0.991	0.10235|0.10235	.|.	.|0.968221	.|0.08547	.|N	.|0.929557	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.62209|0.62209	1.925|1.925	0.09310|0.09310	N|N	0.999996|0.999996	.|D	.|0.71674	.|0.998	.|D	.|0.69824	.|0.966	T|T	0.60151|0.60151	-0.7319|-0.7319	5|10	.|0.66056	.|D	.|0.02	.|.	3.9445|3.9445	0.09343|0.09343	0.2052:0.3629:0.3488:0.0831|0.2052:0.3629:0.3488:0.0831	.|.	.|3652	.|F8WAI1	.|.	L|C	1069|3652	.|ENSP00000334714:R3652C	.|ENSP00000334714:R3652C	P|R	+|+	2|1	0|0	IGFN1|IGFN1	199462800|199462800	0.001000|0.001000	0.12720|0.12720	0.041000|0.041000	0.18516|0.18516	0.011000|0.011000	0.07611|0.07611	0.291000|0.291000	0.18994|0.18994	0.166000|0.166000	0.19597|0.19597	-0.221000|-0.221000	0.12465|0.12465	CCG|CGC		0.672	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201196177	C	T	201196177	3	4	108	1	0	0	0	0	1	0	0	0	7590	652	23	2	11040	2	IGFN1	1	201196177	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	15089469	201196177	48054444	7	7388											
C1orf150	148823	broad.mit.edu	37	chr1	247712512	247712512	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgggaaattatctcctgCgaaaactcaggtgagtcttg	12	11	11	7	1	3	2	1	1	2	1	4	4	3	3	1	2	2	0	1	2	4	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:247712512C>T	ENST00000366488.4	+	1	123	c.19C>T	c.(19-21)Cga>Tga	p.R7*	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Nonsense_Mutation_p.R7*|GCSAML_ENST00000366491.2_Nonsense_Mutation_p.R7*|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Silent_p.C127C|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Nonsense_Mutation_p.R7*	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	7								p.R7R(1)|p.C127*(1)									TTATCTCCTGCGAAAACTCAG	0.468																																						uc001idf.3																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.R7R(2)|p.C127*(1)	lung(2)	breast(1)|large_intestine(2)|lung(10)|skin(2)	15						c.(19-21)Cga>Tga		Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.							95	87	90					1																	247712512		2203	4300	6503	SO:0001587	stop_gained	148823							g.chr1:247712512C>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.19C>T	1.37:g.247712512C>T	ENSP00000355444:p.Arg7*					C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	p.R7*	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		0	166	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		7					B2R4Y5|B3KX46|Q5JQT3	Nonsense_Mutation	SNP	ENST00000366488.4	37	c.19C>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	C	37	6.217729	0.97385	.	.	ENSG00000169224	ENST00000366491;ENST00000366489;ENST00000526896;ENST00000366488;ENST00000536561	.	.	.	3.26	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6788	11.557	0.50755	0.2794:0.7206:0.0:0.0	.	.	.	.	X	7	.	ENSP00000355444:R7X	R	+	1	2	C1orf150	245779135	0.002000	0.14202	0.000000	0.03702	0.978000	0.69477	-0.619000	0.05572	-0.497000	0.06641	-0.467000	0.05162	CGA		0.468	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		T	247712512	C	T	247712512	4	4	108	1	0	0	0	0	0	1	0	0	2004	760	27	1	21	1	C1orf150	1	247712512	Nonsense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	46516335	247712512	1538109	8	7389											
OR2T12	127064	broad.mit.edu	37	chr1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcagcacaagccaaaCgcaccaacacgggggcctcg	13	3	11	14	3	1	0	1	0	0	0	2	0	1	0	3	2	4	2	3	2	4	0			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:248458330C>T	ENST00000317996.1	-	1	550	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552																																						uc010pzj.2																			0		p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(550-552)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.							174	131	145					1																	248458330		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458330C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.551G>A	1.37:g.248458330C>T	ENSP00000324583:p.Arg184His						p.R184H	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		0	551	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		184						Missense_Mutation	SNP	ENST00000317996.1	37	c.551G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	10.09	1.253645	0.22965	.	.	ENSG00000177201	ENST00000317996	T	0.00137	8.68	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00073	0.0002	N	0.16066	0.365	0.09310	N	1	B	0.32188	0.359	B	0.29524	0.103	T	0.17137	-1.0379	10	0.52906	T	0.07	.	3.7402	0.08527	0.0:0.3871:0.2015:0.4114	.	184	Q8NG77	O2T12_HUMAN	H	184	ENSP00000324583:R184H	ENSP00000324583:R184H	R	-	2	0	OR2T12	246524953	0.000000	0.05858	0.067000	0.19924	0.380000	0.30137	-3.284000	0.00527	-0.207000	0.10187	0.175000	0.17021	CGT		0.552	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		T	248458330	C	T	248458330	3	4	108	1	0	0	0	0	1	0	0	0	11019	536	19	1	414	1	OR2T12	1	248458330	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	745818	248458330	792291	9	7390											
LOC285033	285033	broad.mit.edu	37	chr2	96906137	96906137	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagcaggtaatttcttcCgaattcaaaaactcctcatg	12	13	6	10	2	3	0	2	0	1	0	6	1	5	0	2	1	2	3	2	1	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:96906137C>T	ENST00000446816.1	+	0	564																											TAATTTCTTCCGAATTCAAAA	0.408																																						uc002svp.1																			0											c.(76-78)Cga>Tga		Homo sapiens uncharacterized LOC285033 (LOC285033), mRNA.							72	72	72					2																	96906137		1872	4101	5973			285033							g.chr2:96906137C>T																													2.37:g.96906137C>T						LOC285033_uc002svn.2_Non-coding_Transcript	p.R26*	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN			0	687	+			26						Nonsense_Mutation	SNP	ENST00000446816.1	37	c.76C>T																																																																																					0.408	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1			T	96906137	C	T	96906137	1	4	108	0	1	0	0	0	0	0	0	0	8873	644	23	2		2	LOC285033	2	96906137	RNA	SNP	C	TCGA-06-6700-01A-12D-1845-08		96906137	146293236	10	7391											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530374	125530374	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttcctttccggtttcAgctccttcagagatcacctt	5	17	6	13	1	3	1	3	0	0	1	6	2	6	1	4	1	1	3	4	1	0	6			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:125530374A>T	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCGGTTTCAGCTCCTTCAG	0.458																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.e17-2		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							142	129	133					2																	125530374		1928	4130	6058	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530374A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2531-1A>T	2.37:g.125530374A>T						CNTNAP5_uc002tno.3_Splice_Site_p.S844_splice	p.S845_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2898	+			844			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.2534_splice	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.305284	0.81247	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7806	0.69764	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125246844	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.800000	0.91900	2.096000	0.63516	0.524000	0.50904	.		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron	T	125530374	A	T	125530374	5	4	108	1	0	0	0	0	0	0	1	0	3650	202	7	5	2595	5	CNTNAP5	2	125530374	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	28624237	125530374	117668999	11	7392											
FAM128B	80097	broad.mit.edu	37	chr2	130948160	130948160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctaccaggctgcccaagggGggcgggcctgggaagagccc	7	3	18	13	1	0	1	0	0	0	1	0	2	0	2	4	6	3	2	4	6	3	1	rs376967942		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:130948160G>A	ENST00000281871.6	+	3	793	c.438G>A	c.(436-438)ggG>ggA	p.G146G	MZT2B_ENST00000409255.1_Silent_p.G206G	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	146						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						TGCCCAAGGGGGGCGGGCCTG	0.647																																						uc002tqu.3																			0				lung(1)	1						c.(436-438)ggG>ggA		Homo sapiens mitotic spindle organizing protein 2B (MZT2B), mRNA.							35	41	39					2																	130948160		2192	4295	6487	SO:0001819	synonymous_variant	80097					centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr2:130948160G>A	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"	613450	"family with sequence similarity 128, member B"	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.438G>A	2.37:g.130948160G>A							p.G146G	NM_025029	NP_079305	Q6NZ67	MZT2B_HUMAN			2	793	+			146					Q96CG4	Silent	SNP	ENST00000281871.6	37	c.438G>A	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	2.742|2.742	-0.261905|-0.261905	0.05791|0.05791	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000425361|ENST00000455239	T|.	0.31510|.	1.49|.	3.59|3.59	0.564|0.564	0.17302|0.17302	.|.	0.572258|0.572258	0.17506|0.17506	N|N	0.171814|0.171814	T|T	0.58836|0.58836	0.2150|0.2150	.|.	.|.	.|.	0.52099|0.52099	D|D	0.999945|0.999945	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54022|0.54022	-0.8355|-0.8355	7|6	0.56958|0.54805	D|T	0.05|0.06	-15.9954|-15.9954	6.1906|6.1906	0.20522|0.20522	0.1909:0.2824:0.5267:0.0|0.1909:0.2824:0.5267:0.0	.|.	.|.	.|.	.|.	E|R	110|87	ENSP00000398749:G110E|.	ENSP00000398749:G110E|ENSP00000404629:G87R	G|G	+|+	2|1	0|0	MZT2B|MZT2B	130664630|130664630	0.838000|0.838000	0.29461|0.29461	0.111000|0.111000	0.21465|0.21465	0.321000|0.321000	0.28281|0.28281	0.106000|0.106000	0.15354|0.15354	-0.256000|-0.256000	0.09473|0.09473	-1.644000|-1.644000	0.00765|0.00765	GGG|GGG		0.647	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029		A	130948160	G	A	130948160	2	1	108	1	0	0	0	0	0	0	0	1	5435	1219	43	3		3	FAM128B	2	130948160	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	5417786	130948160	112251213	12	7393											
ANKRD28	23243	broad.mit.edu	37	chr3	15712040	15712040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccacatccttattgggagCacaggccaaagctggggtat	11	8	12	10	0	0	0	0	0	0	0	1	1	1	1	3	4	3	3	3	4	3	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:15712040C>T	ENST00000399451.2	-	28	3266	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.A1000T	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	967						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTATTGGGAGCACAGGCCAAA	0.398																																						uc003caj.1																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2899-2901)Gct>Act		Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.							83	80	81					3																	15712040		1940	4130	6070	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15712040C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2899G>A	3.37:g.15712040C>T	ENSP00000382379:p.Ala967Thr					ANKRD28_uc003cai.1_Missense_Mutation_p.A813T|ANKRD28_uc011avz.1_Missense_Mutation_p.A813T|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011avy.1_Missense_Mutation_p.A47T	p.A967T	NM_015199	NP_001182028	O15084	ANR28_HUMAN			27	3042	-			967					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2899G>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491959	0.96339	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.69040	-0.37;-0.37;-0.37	5.65	5.65	0.86999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.64676	1.99	0.80722	D	1	D;P	0.63880	0.993;0.698	D;P	0.74674	0.984;0.654	T	0.81437	-0.0933	10	0.66056	D	0.02	.	19.7241	0.96154	0.0:1.0:0.0:0.0	.	47;967	B4DS25;O15084	.;ANR28_HUMAN	T	967;1000;967	ENSP00000382379:A967T;ENSP00000373287:A1000T;ENSP00000397341:A967T	ENSP00000373287:A1000T	A	-	1	0	ANKRD28	15687044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.668000	0.90789	0.655000	0.94253	GCT		0.398	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		T	15712040	C	T	15712040	3	4	108	1	0	0	0	0	1	0	0	0	656	710	25	3	266	3	ANKRD28	3	15712040	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		15712040	182310390	13	7394											
OXNAD1	92106	broad.mit.edu	37	chr3	16343240	16343240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgcaggaggagtcggAattaaccctctgctttccat	9	13	10	9	1	1	1	0	1	1	0	3	4	2	4	2	3	3	2	2	3	2	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:16343240A>G	ENST00000285083.5	+	7	1005	c.540A>G	c.(538-540)ggA>ggG	p.G180G	OXNAD1_ENST00000605932.1_Silent_p.G180G|OXNAD1_ENST00000606098.1_Silent_p.G180G|OXNAD1_ENST00000544043.1_Silent_p.G198G|OXNAD1_ENST00000435829.2_Silent_p.G198G	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	180	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GAGGAGTCGGAATTAACCCTC	0.483																																						uc011awb.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						c.(592-594)ggA>ggG		Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.							101	95	97					3																	16343240		2203	4300	6503	SO:0001819	synonymous_variant	92106						oxidoreductase activity	g.chr3:16343240A>G	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.540A>G	3.37:g.16343240A>G						OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Silent_p.G180G|OXNAD1_uc003cax.3_Silent_p.G180G	p.G198G	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN			5	714	+			180					Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	37	c.594A>G	CCDS2630.1																																																																																				0.483	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		G	16343240	A	G	16343240	2	3	108	1	0	0	0	0	0	0	0	1	11333	233	9	4		4	OXNAD1	3	16343240	Silent	SNP	A	TCGA-06-6700-01A-12D-1845-08	631200	16343240	181679190	14	7395											
ZNF619	285267	broad.mit.edu	37	chr3	40529457	40529457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggaagaaactcatcaatGgaacagggctatccgcagtt	14	8	10	9	1	2	1	2	0	0	1	3	3	3	3	1	3	2	3	1	3	6	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:40529457G>A	ENST00000314686.5	+	6	1813	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	ZNF619_ENST00000456778.1_Missense_Mutation_p.G442R|ZNF619_ENST00000432264.2_Missense_Mutation_p.G486R|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.G526R|ZNF619_ENST00000447116.2_Missense_Mutation_p.G526R|ZNF619_ENST00000522736.1_Missense_Mutation_p.G477R|ZNF619_ENST00000429348.2_Missense_Mutation_p.G486R			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTCATCAATGGAACAGGGCT	0.537																																						uc011azb.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1576-1578)Gga>Aga		Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.							141	103	116					3																	40529457		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529457G>A	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1408G>A	3.37:g.40529457G>A	ENSP00000322529:p.Gly470Arg					ZNF619_uc011aza.2_Missense_Mutation_p.G428R|ZNF619_uc011azc.2_Missense_Mutation_p.G486R|ZNF619_uc011azd.2_Missense_Mutation_p.G442R|ZNF619_uc003ckj.3_Missense_Mutation_p.G470R|ZNF619_uc021wwh.1_Missense_Mutation_p.G477R	p.G526R	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	5	1883	+			526					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1576G>A		.	.	.	.	.	.	.	.	.	.	G	10.67	1.416085	0.25552	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.06687	3.28;3.32;3.51;3.27;3.3;3.32;3.51	2.3	0.268	0.15626	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B;B;P;P;P;P	0.41450	0.438;0.438;0.704;0.75;0.704;0.704	B;B;B;B;B;B	0.32289	0.102;0.102;0.143;0.129;0.143;0.143	T	0.37478	-0.9704	9	0.87932	D	0	.	1.1013	0.01684	0.1486:0.2245:0.3987:0.2281	.	442;486;526;428;477;470	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	R	470;526;486;442;107;477;526;486	ENSP00000322529:G470R;ENSP00000411132:G526R;ENSP00000398024:G486R;ENSP00000397232:G442R;ENSP00000428004:G477R;ENSP00000430705:G526R;ENSP00000388710:G486R	ENSP00000322529:G470R	G	+	1	0	ZNF619	40504461	0.227000	0.23707	0.000000	0.03702	0.050000	0.14768	2.810000	0.47979	-0.085000	0.12573	0.462000	0.41574	GGA		0.537	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		A	40529457	G	A	40529457	3	1	108	1	0	0	0	0	1	0	0	0	18040	1349	47	3	1616	3	ZNF619	3	40529457	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	24186217	40529457	157492973	15	7396											
RBM15B	29890	broad.mit.edu	37	chr3	51430156	51430156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgagagtttgaccgctttggGagcattcggaccattgatca	9	11	12	9	3	1	3	1	2	0	1	2	6	1	5	2	2	1	3	2	2	0	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:51430156G>A	ENST00000323686.4	+	1	1426	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGCTTTGGGAGCATTCGGA	0.572																																						uc003dbd.3																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1324-1326)ggG>ggA		Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.							86	92	90					3																	51430156		2203	4300	6503	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430156G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1326G>A	3.37:g.51430156G>A							p.G442G	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	0	1458	+			442			RRM 3.		A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.1326G>A	CCDS33764.1																																																																																				0.572	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		A	51430156	G	A	51430156	2	1	108	1	0	0	0	0	0	0	0	1	13117	1161	41	3		3	RBM15B	3	51430156	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	10900699	51430156	146592274	16	7397											
BOD1L	259282	broad.mit.edu	37	chr4	13603360	13603360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcacagtgccctctgtttCttttttgggacccattctca	5	17	7	12	0	4	0	2	0	3	0	5	1	4	1	2	1	1	1	2	1	0	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:13603360C>T	ENST00000040738.5	-	10	5299	c.5164G>A	c.(5164-5166)Gaa>Aaa	p.E1722K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1722						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCTCTGTTTCTTTTTTGGGA	0.493																																						uc003gmz.1																			0											c.(5164-5166)Gaa>Aaa		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							159	154	156					4																	13603360		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603360C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5164G>A	4.37:g.13603360C>T	ENSP00000040738:p.Glu1722Lys					BOD1L1_uc010idr.1_Missense_Mutation_p.E1059K	p.E1722K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			9	5281	-			1722					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5164G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473479	0.84640	.	.	ENSG00000038219	ENST00000040738	T	0.12569	2.67	4.8	4.8	0.61643	.	0.000000	0.56097	D	0.000030	T	0.27278	0.0669	L	0.36672	1.1	0.40426	D	0.979894	D	0.76494	0.999	D	0.78314	0.991	T	0.01725	-1.1287	10	0.32370	T	0.25	-11.2747	16.3729	0.83371	0.0:1.0:0.0:0.0	.	1722	Q8NFC6	BOD1L_HUMAN	K	1722	ENSP00000040738:E1722K	ENSP00000040738:E1722K	E	-	1	0	BOD1L	13212458	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.986000	0.63851	2.359000	0.80004	0.555000	0.69702	GAA		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13603360	C	T	13603360	3	4	108	1	0	0	0	0	1	0	0	0	1483	922	32	3	4059	3	BOD1L	4	13603360	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		13603360	177550916	17	7398											
UGT8	7368	broad.mit.edu	37	chr4	115544445	115544445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaatttgacctgctgctgGtggaccctaatgatatgtgt	11	13	10	7	0	0	2	0	2	0	0	0	3	0	3	2	2	2	2	2	2	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:115544445G>C	ENST00000310836.6	+	2	931	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	UGT8_ENST00000394511.3_Missense_Mutation_p.V137L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	137					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCTGCTGCTGGTGGACCCTAA	0.438																																						uc003ibs.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(409-411)Gtg>Ctg		Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.							169	166	167					4																	115544445		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544445G>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.409G>C	4.37:g.115544445G>C	ENSP00000311648:p.Val137Leu					UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_Non-coding_Transcript	p.V137L	NM_001128174	NP_003351	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	1	931	+		Ovarian(17;0.156)	137					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.409G>C	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450337	0.63290	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.06608	3.28;3.28;3.28	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.07773	0.0195	N	0.25144	0.715	0.58432	D	0.999998	B	0.24963	0.115	B	0.33960	0.173	T	0.45220	-0.9276	10	0.26408	T	0.33	.	19.4042	0.94642	0.0:0.0:1.0:0.0	.	137	Q16880	CGT_HUMAN	L	137	ENSP00000311648:V137L;ENSP00000421446:V137L;ENSP00000378019:V137L	ENSP00000311648:V137L	V	+	1	0	UGT8	115763894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	2.660000	0.90430	0.650000	0.86243	GTG		0.438	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		C	115544445	G	C	115544445	3	2	108	1	0	0	0	0	1	0	0	0	16962	1261	44	5	411	5	UGT8	4	115544445	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	101941085	115544445	75609831	18	7399											
ODZ3	55714	broad.mit.edu	37	chr4	183714528	183714528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgacggcctgggaaggCgtgtttctagcaaaaccagt	10	10	13	8	2	1	1	0	1	1	0	1	2	1	2	2	3	2	3	2	3	5	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:183714528C>T	ENST00000511685.1	+	26	6826	c.6703C>T	c.(6703-6705)Cgt>Tgt	p.R2235C	TENM3_ENST00000406950.2_Missense_Mutation_p.R2235C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2235					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2235C(1)									CCTGGGAAGGCGTGTTTCTAG	0.453																																						uc003ivd.1																			1	Substitution - Missense(1)	p.R2235C(2)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(6703-6705)Cgt>Tgt		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							78	79	79					4																	183714528		1895	4118	6013	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714528C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6703C>T	4.37:g.183714528C>T	ENSP00000424226:p.Arg2235Cys						p.R2235C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	6778	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2235					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6703C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768920	0.49680	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90444	-2.67;-2.67	4.46	3.61	0.41365	.	.	.	.	.	D	0.95974	0.8689	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96473	0.9350	9	0.66056	D	0.02	.	13.8251	0.63346	0.1543:0.8457:0.0:0.0	.	2235	Q9P273	TEN3_HUMAN	C	2235	ENSP00000424226:R2235C;ENSP00000385276:R2235C	ENSP00000385276:R2235C	R	+	1	0	ODZ3	183951522	1.000000	0.71417	0.631000	0.29282	0.918000	0.54935	3.854000	0.55949	1.082000	0.41137	0.563000	0.77884	CGT		0.453	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183714528	C	T	183714528	3	4	108	1	0	0	0	0	1	0	0	0	10836	768	27	1	6801	1	ODZ3	4	183714528	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	68170083	183714528	7439748	19	7400											
MARCH6	10299	broad.mit.edu	37	chr5	10394249	10394249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgaagagcttacatgGgaaagagtaagacctttttc	12	11	11	7	0	0	4	0	1	0	3	1	5	0	5	1	1	3	4	1	1	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:10394249G>A	ENST00000274140.5	+	8	954	c.822G>A	c.(820-822)tgG>tgA	p.W274*	MARCH6_ENST00000449913.2_Nonsense_Mutation_p.W226*|MARCH6_ENST00000503788.1_Nonsense_Mutation_p.W169*	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	274					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGCTTACATGGGAAAGAGTAA	0.303																																						uc003jet.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(820-822)tgG>tgA		Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.							67	67	67					5																	10394249		2203	4300	6503	SO:0001587	stop_gained	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10394249G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.822G>A	5.37:g.10394249G>A	ENSP00000274140:p.Trp274*					MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169*	p.W274*	NM_005885	NP_005876	O60337	MARH6_HUMAN			7	1005	+			274					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	ENST00000274140.5	37	c.822G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	39	7.444700	0.98289	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1012	19.1444	0.93459	0.0:0.0:1.0:0.0	.	.	.	.	X	226;169;274	.	ENSP00000274140:W274X	W	+	3	0	MARCH6	10447249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.409000	0.97331	2.523000	0.85059	0.585000	0.79938	TGG		0.303	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		A	10394249	G	A	10394249	4	1	108	1	0	0	0	0	0	1	0	0	9305	1241	43	3	852	3	MARCH6	5	10394249	Nonsense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		10394249	170521011	20	7401											
SLC26A2	1836	broad.mit.edu	37	chr5	149360771	149360771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttggggtttgtttttctAtattttgtgtcatcctccgc	3	22	9	7	1	2	0	1	0	1	0	4	0	4	0	2	2	0	3	2	2	2	9			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:149360771A>G	ENST00000286298.4	+	3	1883	c.1615A>G	c.(1615-1617)Ata>Gta	p.I539V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	539					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGTTTTTCTATATTTTGTGT	0.423																																						uc003lrh.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1615-1617)Ata>Gta		Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.							115	123	120					5																	149360771		2202	4299	6501	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360771A>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1615A>G	5.37:g.149360771A>G	ENSP00000286298:p.Ile539Val						p.I539V	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1883	+			539					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1615A>G	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666087	0.29604	.	.	ENSG00000155850	ENST00000286298	D	0.93604	-3.25	6.17	5.01	0.66863	.	0.081092	0.85682	D	0.000000	D	0.89336	0.6686	L	0.37561	1.115	0.18873	N	0.999984	B	0.02656	0.0	B	0.12156	0.007	T	0.79522	-0.1769	10	0.42905	T	0.14	.	13.0239	0.58804	0.7469:0.2531:0.0:0.0	.	539	P50443	S26A2_HUMAN	V	539	ENSP00000286298:I539V	ENSP00000286298:I539V	I	+	1	0	SLC26A2	149340964	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.215000	0.51169	1.141000	0.42275	0.533000	0.62120	ATA		0.423	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		G	149360771	A	G	149360771	3	3	108	1	0	0	0	0	1	0	0	0	14517	449	16	4	1621	4	SLC26A2	5	149360771	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	138966522	149360771	31554489	21	7402											
VARS	7407	broad.mit.edu	37	chr6	31746760	31746760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttggcttcatctgccTcctggacttcgagcggcacc	6	10	9	16	2	2	0	1	0	1	0	4	2	3	1	4	3	2	2	4	3	0	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:31746760T>C	ENST00000375663.3	-	29	4150	c.3710A>G	c.(3709-3711)gAg>gGg	p.E1237G	VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000375686.3_5'Flank|VARS_ENST00000482996.1_5'Flank|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1237					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TTCATCTGCCTCCTGGACTTC	0.637																																						uc003nxe.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(3709-3711)gAg>gGg		Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	L-Valine(DB00161)						50	55	53					6																	31746760		1495	2689	4184	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31746760T>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3710A>G	6.37:g.31746760T>C	ENSP00000364815:p.Glu1237Gly					VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.E174G	p.E1237G	NM_006295	NP_006286	P26640	SYVC_HUMAN			28	4133	-			1237					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.3710A>G	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943628	0.53079	.	.	ENSG00000204394	ENST00000375663	T	0.05649	3.41	4.96	4.96	0.65561	.	0.116678	0.56097	D	0.000031	T	0.04452	0.0122	M	0.69358	2.11	0.80722	D	1	P	0.37688	0.605	B	0.34093	0.175	T	0.10613	-1.0622	10	0.66056	D	0.02	-20.4195	12.678	0.56906	0.0:0.0:0.0:1.0	.	1237	P26640	SYVC_HUMAN	G	1237	ENSP00000364815:E1237G	ENSP00000364815:E1237G	E	-	2	0	VARS	31854739	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.937000	0.56575	2.096000	0.63516	0.374000	0.22700	GAG		0.637	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		C	31746760	T	C	31746760	3	2	108	1	0	0	0	0	1	0	0	0	17120	1551	54	4	92	4	VARS	6	31746760	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08		31746760	139368307	22	7403											
SLC22A7	10864	broad.mit.edu	37	chr6	43269393	43269393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacctgttccgcacaccaCggctccgacacatctcactg	9	8	7	17	3	1	1	1	0	1	1	4	2	3	1	4	1	0	3	4	1	1	2	rs371403676		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:43269393C>T	ENST00000372585.5	+	7	1119	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R340W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R340W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	342					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCGCACACCACGGCTCCGACA	0.617																																						uc021yzt.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1024-1026)Cgg>Tgg		Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	82	62	69		1018,1024	-1.3	0	6		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC22A7	NM_006672.3,NM_153320.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	340/547,342/549	43269393	1,13005	2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269393C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1024C>T	6.37:g.43269393C>T	ENSP00000361666:p.Arg342Trp					SLC22A7_uc010jyl.1_Missense_Mutation_p.R343W|SLC22A7_uc003ous.3_Missense_Mutation_p.R340W|SLC22A7_uc003out.3_Missense_Mutation_p.R340W	p.R342W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		6	1123	+			342					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1024C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626500	0.46840	0.0	1.16E-4	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.74737	0.33;0.33;0.33;-0.87	5.56	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.405610	0.27323	N	0.019900	T	0.67411	0.2890	M	0.77486	2.375	0.09310	N	0.999998	D;P;D	0.59357	0.958;0.949;0.985	P;P;P	0.51453	0.67;0.54;0.655	T	0.68443	-0.5407	10	0.66056	D	0.02	.	11.2768	0.49172	0.7019:0.2293:0.0:0.0688	.	342;340;340	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	W	340;342;340;35	ENSP00000361670:R340W;ENSP00000361666:R342W;ENSP00000361655:R340W;ENSP00000393836:R35W	ENSP00000361655:R340W	R	+	1	2	SLC22A7	43377371	0.001000	0.12720	0.013000	0.15412	0.463000	0.32649	-0.556000	0.05992	-0.283000	0.09115	-0.521000	0.04368	CGG		0.617	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			T	43269393	C	T	43269393	3	4	108	1	0	0	0	0	1	0	0	0	14459	527	19	1	1046	1	SLC22A7	6	43269393	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	11522633	43269393	127845674	23	7404											
GFRAL	389400	broad.mit.edu	37	chr6	55264168	55264168	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttttctttttctaggAgaagtaatctatgctgccat	10	18	6	7	0	4	1	0	0	4	1	4	2	4	1	1	1	2	2	1	1	5	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:55264168A>T	ENST00000340465.2	+	8	1136	c.1050A>T	c.(1048-1050)ggA>ggT	p.G350G		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	350					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTTTCTAGGAGAAGTAATCT	0.313																																						uc003pcm.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.e8-1		Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.							63	64	64					6																	55264168		2203	4300	6503	SO:0001630	splice_region_variant	389400					integral to membrane	receptor activity	g.chr6:55264168A>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.1049-1A>T	6.37:g.55264168A>T							p.G350_splice	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1135	+	Lung NSC(77;0.0875)|Renal(3;0.122)		350					Q5VTF6	Silent	SNP	ENST00000340465.2	37	c.1049_splice	CCDS4957.1																																																																																				0.313	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	Silent	T	55264168	A	T	55264168	5	4	108	1	0	0	0	0	0	0	1	0	6351	318	11	5	1080	5	GFRAL	6	55264168	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	11994775	55264168	115850899	24	7405											
IMPG1	3617	broad.mit.edu	37	chr6	76731930	76731930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggcccaagtgagacgttgGcaacatctgtgaaaatttta	14	10	10	7	1	1	2	0	2	1	1	1	3	1	2	1	2	1	2	1	2	6	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:76731930G>A	ENST00000369950.3	-	6	758	c.569C>T	c.(568-570)gCc>gTc	p.A190V	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGAGACGTTGGCAACATCTGT	0.378																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(568-570)gCc>gTc		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.							117	106	110					6																	76731930		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76731930G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.569C>T	6.37:g.76731930G>A	ENSP00000358966:p.Ala190Val						p.A190V	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			5	699	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	190						Missense_Mutation	SNP	ENST00000369950.3	37	c.569C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633856	0.03584	.	.	ENSG00000112706	ENST00000369950	T	0.20738	2.05	5.2	2.41	0.29592	.	1.505630	0.03859	N	0.273741	T	0.04770	0.0129	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31223	-0.9951	10	0.10377	T	0.69	.	5.7126	0.17943	0.164:0.0:0.6788:0.1572	.	190	Q17R60	IMPG1_HUMAN	V	190	ENSP00000358966:A190V	ENSP00000358966:A190V	A	-	2	0	IMPG1	76788650	0.153000	0.22777	0.068000	0.19968	0.026000	0.11368	1.410000	0.34691	0.558000	0.29135	0.650000	0.86243	GCC		0.378	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76731930	G	A	76731930	3	1	108	1	0	0	0	0	1	0	0	0	7728	1203	42	3	1872	3	IMPG1	6	76731930	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	21467762	76731930	94383137	25	7406											
SLC22A3	6581	broad.mit.edu	37	chr6	160828117	160828117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctatcctgccttggtgttgGcgtcactggggttgtggtgg	2	14	17	8	1	1	0	1	0	0	0	2	0	2	0	2	6	1	3	2	6	1	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:160828117G>A	ENST00000275300.2	+	3	730	c.578G>A	c.(577-579)gGc>gAc	p.G193D	SLC22A3_ENST00000392145.1_Missense_Mutation_p.G193D	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	193					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTTGGTGTTGGCGTCACTGGG	0.473																																						uc003qti.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(577-579)gGc>gAc		Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.							261	224	237					6																	160828117		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160828117G>A	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.578G>A	6.37:g.160828117G>A	ENSP00000275300:p.Gly193Asp					SLC22A3_uc011efx.2_Non-coding_Transcript	p.G193D	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	2	605	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	193					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.578G>A	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311122	0.60414	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60040	0.22;0.22	5.88	5.88	0.94601	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.81802	2.56	0.42547	D	0.993095	D	0.63046	0.992	D	0.65684	0.937	T	0.71540	-0.4562	10	0.44086	T	0.13	.	18.4012	0.90516	0.0:0.0:1.0:0.0	.	193	O75751	S22A3_HUMAN	D	193	ENSP00000275300:G193D;ENSP00000375989:G193D	ENSP00000275300:G193D	G	+	2	0	SLC22A3	160748107	1.000000	0.71417	0.106000	0.21319	0.242000	0.25591	3.894000	0.56250	2.790000	0.95986	0.591000	0.81541	GGC		0.473	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		A	160828117	G	A	160828117	3	1	108	1	0	0	0	0	1	0	0	0	14455	1203	42	3	588	3	SLC22A3	6	160828117	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	84096187	160828117	10286950	26	7407											
EGFR	1956	broad.mit.edu	37	chr7	55268881	55268881	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaaaatctctgcaccagGgggatgaaagaatgcatttg	13	9	10	9	0	2	2	1	1	1	1	3	3	2	3	2	2	2	2	2	2	4	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:55268881G>A	ENST00000275493.2	+	25	3124	c.2947G>A	c.(2947-2949)Ggg>Agg	p.G983R	EGFR_ENST00000455089.1_Splice_Site_p.G938R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Splice_Site_p.G930R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	983					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCTGCACCAGGGGGATGAAAG	0.512		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.e25-1		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						109	105	106					7																	55268881		2203	4300	6503	SO:0001630	splice_region_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268881G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2947-1G>A	7.37:g.55268881G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Splice_Site_p.G983_splice|EGFR_uc010kzg.2_Splice_Site_p.G938_splice|EGFR_uc022adn.1_Splice_Site_p.G938_splice|EGFR_uc011kco.2_Splice_Site_p.G930_splice	p.G983_splice	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		25	3193	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		983					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2947_splice	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170963	0.78452	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61742	0.08;0.08;0.08	5.5	4.62	0.57501	Protein kinase-like domain (1);	0.097954	0.64402	D	0.000001	T	0.61627	0.2362	M	0.85462	2.755	0.80722	D	1	P;P	0.52577	0.954;0.809	B;B	0.41036	0.346;0.276	T	0.69335	-0.5172	9	.	.	.	.	13.3734	0.60725	0.0768:0.0:0.9232:0.0	.	938;983	Q504U8;P00533	.;EGFR_HUMAN	R	938;853;983;930	ENSP00000415559:G938R;ENSP00000275493:G983R;ENSP00000395243:G930R	.	G	+	1	0	EGFR	55236375	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	7.822000	0.86651	1.464000	0.47987	0.650000	0.86243	GGG		0.512	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	Missense_Mutation	A	55268881	G	A	55268881	5	1	108	1	0	0	0	0	0	0	1	0	4967	1246	43	3	3309	3	EGFR	7	55268881	Splice_Site	SNP	G	TCGA-06-6700-01A-12D-1845-08		55268881	103869782	27	7408											
PCLO	27445	broad.mit.edu	37	chr7	82595087	82595087	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtaaaatttaacttacTgttttttctttcccaggttc	9	20	5	7	0	1	0	0	0	1	0	3	0	2	0	1	1	2	4	1	1	5	10			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:82595087T>C	ENST00000333891.9	-	4	4354	c.4017A>G	c.(4015-4017)acA>acG	p.T1339T	PCLO_ENST00000423517.2_Splice_Site_p.T1339T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTAACTTACTGTTTTTTCTT	0.338																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.e4+1		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							185	161	169					7																	82595087		1870	4098	5968	SO:0001630	splice_region_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595087T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4017+1A>G	7.37:g.82595087T>C						PCLO_uc003uhv.2_Splice_Site_p.T1339_splice	p.T1339_splice	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4306	-			1270						Silent	SNP	ENST00000333891.9	37	c.4017_splice	CCDS47630.1																																																																																				0.338	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	Silent	C	82595087	T	C	82595087	5	2	108	1	0	0	0	0	0	0	1	0	11583	1594	55	4	11516	4	PCLO	7	82595087	Splice_Site	SNP	T	TCGA-06-6700-01A-12D-1845-08	27326206	82595087	76543576	28	7409											
AKR1B10	57016	broad.mit.edu	37	chr7	134222353	134222353	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaagccagaagacccttcCctgctggaggatcccaagat	11	6	10	14	0	0	3	0	0	0	3	2	5	2	5	5	2	2	1	5	2	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:134222353C>G	ENST00000359579.4	+	7	1001	c.681C>G	c.(679-681)tcC>tcG	p.S227S		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	227					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGACCCTTCCCTGCTGGAGG	0.463																																						uc003vrr.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(679-681)tcC>tcG		Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.							105	112	110					7																	134222353		2203	4300	6503	SO:0001819	synonymous_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222353C>G	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"Aldo-keto reductases"	382	protein-coding gene	gene with protein product	"aldose reductase-like 1", "aldo-keto reductase family 1, member B11 (aldose reductase-like)", "aldose reductase-like peptide", "aldose reductase-related protein", "small intestine reductase"	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.681C>G	7.37:g.134222353C>G							p.S227S	NM_020299	NP_064695	O60218	AK1BA_HUMAN			6	1001	+			227					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Silent	SNP	ENST00000359579.4	37	c.681C>G	CCDS5832.1																																																																																				0.463	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		G	134222353	C	G	134222353	2	3	108	1	0	0	0	0	0	0	0	1	467	610	22	5		5	AKR1B10	7	134222353	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	51627266	134222353	24916310	29	7410											
EPHA1	2041	broad.mit.edu	37	chr7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccgggttgtggaaagCgaggtagaggccacggcggg	8	4	20	9	4	0	1	0	0	0	1	0	3	0	2	2	7	1	3	2	7	2	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:143097029C>T	ENST00000275815.3	-	4	636	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617																																						uc003wcz.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(550-552)Gct>Act		Homo sapiens EPH receptor A1 (EPHA1), mRNA.							31	32	31					7																	143097029		2203	4298	6501	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143097029C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.550G>A	7.37:g.143097029C>T	ENSP00000275815:p.Ala184Thr						p.A184T	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	637	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	184					A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.550G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578904	0.96565	.	.	ENSG00000146904	ENST00000275815	T	0.10960	2.82	4.79	4.79	0.61399	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000029	T	0.42471	0.1204	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54296	-0.8315	10	0.87932	D	0	.	18.0282	0.89275	0.0:1.0:0.0:0.0	.	184	P21709	EPHA1_HUMAN	T	184	ENSP00000275815:A184T	ENSP00000275815:A184T	A	-	1	0	EPHA1	142807151	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	7.625000	0.83145	2.469000	0.83416	0.655000	0.94253	GCT		0.617	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			T	143097029	C	T	143097029	3	4	108	1	0	0	0	0	1	0	0	0	5165	768	27	1	2440	1	EPHA1	7	143097029	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	8874676	143097029	16041634	30	7411											
NCAPG2	54892	broad.mit.edu	37	chr7	158447341	158447341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatctgaaactgatggtCaccaaggcctaccataacaa	14	9	7	11	0	2	2	1	2	1	0	2	2	2	2	3	2	4	1	3	2	5	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:158447341C>A	ENST00000409423.1	-	23	2864	c.2692G>T	c.(2692-2694)Gac>Tac	p.D898Y	NCAPG2_ENST00000541468.1_Missense_Mutation_p.D399Y|NCAPG2_ENST00000409339.3_Missense_Mutation_p.D898Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D898Y|NCAPG2_ENST00000449727.2_Missense_Mutation_p.D898Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D690Y	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	898					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AACTGATGGTCACCAAGGCCT	0.428																																						uc011kwe.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2692-2694)Gac>Tac		Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.							170	164	166					7																	158447341		1943	4152	6095	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158447341C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2692G>T	7.37:g.158447341C>A	ENSP00000386569:p.Asp898Tyr					NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc003wnv.1_Missense_Mutation_p.D898Y|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y	p.D898Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	21	2837	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	898					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2692G>T	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163409	0.21538	.	.	ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727	T;T;T;T;T;T	0.38887	1.11;1.14;1.14;1.16;1.13;1.13	5.79	3.03	0.35002	.	0.228496	0.50627	D	0.000102	T	0.57227	0.2039	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79108	0.992;0.985;0.915;0.982	T	0.47509	-0.9112	10	0.72032	D	0.01	-13.9023	9.6568	0.39930	0.0:0.7078:0.0:0.2922	.	898;341;690;898	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2	.;.;.;CNDG2_HUMAN	Y	399;898;898;690;898;341;898	ENSP00000442337:D399Y;ENSP00000348657:D898Y;ENSP00000386569:D898Y;ENSP00000275830:D690Y;ENSP00000387007:D898Y;ENSP00000388326:D898Y	ENSP00000275830:D690Y	D	-	1	0	NCAPG2	158140102	0.351000	0.24887	0.005000	0.12908	0.007000	0.05969	1.778000	0.38614	0.805000	0.34159	-0.258000	0.10820	GAC		0.428	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		A	158447341	C	A	158447341	3	1	108	1	0	0	0	0	1	0	0	0	10208	826	29	5	767	5	NCAPG2	7	158447341	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	15350312	158447341	691322	31	7412											
NKAIN3	286183	broad.mit.edu	37	chr8	63659690	63659691	+	Splice_Site	INS	-	-	A																															gtccaaatactactctctgtINSaagtgtcacttttgtgtcat																										TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr8:63659690_63659691insA	ENST00000523211.1	+	4	603		c.e4+2		NKAIN3_ENST00000328472.5_Splice_Site|NKAIN3_ENST00000519049.1_Splice_Site	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTACTCTCTGTAAGTGTCACTT	0.441																																						uc010lyq.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.e4+2		Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.																																				SO:0001630	splice_region_variant	286183					integral to membrane|plasma membrane		g.chr8:63659690_63659691insA	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.471+2->A	8.37:g.63659692_63659692dupA							p.S157_splice	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			4	603	+	Breast(64;0.127)	Lung NSC(129;0.187)	157						Splice_Site	INS	ENST00000523211.1	37	c.471_splice	CCDS55239.1																																																																																				0.441	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	Intron	A	63659691	-	A	63659690	8	5	108	1	0	1	1	0	0	0	1	0	10437	1652	57	0	487	0	NKAIN3	8	63659690	Splice_Site	INS	-	TCGA-06-6700-01A-12D-1845-08		63659690	82704332	32	7413											
OR10A6	390093	broad.mit.edu	37	chr11	7949287	7949287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattgtgtgtaaaaccactCgccttcgccataatttcatc	11	13	6	11	2	1	1	1	0	0	1	4	1	1	1	3	0	1	1	3	0	3	5	rs538357088		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:7949287C>T	ENST00000309838.2	-	1	922	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAAACCACTCGCCTTCGCCA	0.363																																						uc010rbh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(922-924)cGa>cAa		Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.							130	117	122					11																	7949287		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949287C>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.923G>A	11.37:g.7949287C>T	ENSP00000312470:p.Arg308Gln						p.R308Q	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	923	-			308					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.923G>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	1.603	-0.526107	0.04141	.	.	ENSG00000175393	ENST00000309838	T	0.38560	1.13	4.4	-5.95	0.02241	.	0.390477	0.17644	N	0.166909	T	0.14270	0.0345	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.18999	-1.0319	10	0.15952	T	0.53	.	1.1259	0.01735	0.2303:0.3224:0.1168:0.3305	.	308	Q8NH74	O10A6_HUMAN	Q	308	ENSP00000312470:R308Q	ENSP00000312470:R308Q	R	-	2	0	OR10A6	7905863	0.241000	0.23857	0.033000	0.17914	0.001000	0.01503	0.208000	0.17415	-1.282000	0.02396	-1.105000	0.02106	CGA		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		T	7949287	C	T	7949287	3	4	108	1	0	0	0	0	1	0	0	0	10894	884	31	2	24	2	OR10A6	11	7949287	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		7949287	127057229	33	7414											
AMBRA1	55626	broad.mit.edu	37	chr11	46439460	46439461	+	Intron	INS	-	-	A																															ccccacactttaagccacttINSactctggtcggcagatcacc																										TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:46439460_46439461insA	ENST00000458649.2	-	15	3535				AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000528950.1_Intron|AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000426438.1_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTAAGCCACTTACTCTGGTCGG	0.525																																						uc001ncv.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.e17+1		Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.																																				SO:0001627	intron_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46439460_46439461insA	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3116+1->T	11.37:g.46439461_46439461dupA						AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc010rgu.1_Splice_Site_p.E1039_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice	p.E1042_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	17	3439	-			1039					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	INS	ENST00000458649.2	37	c.3125_splice																																																																																					0.525	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		A	46439461	-	A	46439460	6	5	108	0	1	1	1	0	0	0	0	0	565	1769	61	0		0	AMBRA1	11	46439460	Intron	INS	-	TCGA-06-6700-01A-12D-1845-08	38490173	46439460	88567056	34	7415											
OR5A1	219982	broad.mit.edu	37	chr11	59211010	59211010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgactgctatggcataCgaccgatatgcagccatctc	9	10	8	14	2	1	1	0	1	1	0	3	3	2	1	3	1	4	3	3	1	3	3	rs139346783	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59211010C>T	ENST00000302030.2	+	1	394	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTATGGCATACGACCGATATG	0.542													.|||	3	0.000599042	0.0015	0	5008	,	,		19580	0		0	False		,,,				2504	0.001					uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(367-369)taC>taT		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.		C		3,4399	6.2+/-15.9	0,3,2198	244	227	233		369	-6.7	0	11	dbSNP_134	233	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR5A1	NM_001004728.1		0,4,6492	TT,TC,CC		0.0116,0.0682,0.0308		123/316	59211010	4,12988	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211010C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.369C>T	11.37:g.59211010C>T							p.Y123Y	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	369	+			123					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.369C>T	CCDS31561.1																																																																																				0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211010	C	T	59211010	2	4	108	1	0	0	0	0	0	0	0	1	11139	547	19	1		1	OR5A1	11	59211010	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	12771550	59211010	75795506	35	7416											
STX3	6809	broad.mit.edu	37	chr11	59564776	59564776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattgataattatcattgtGctagtagttgtgttgctggg	10	17	11	3	0	1	1	1	1	0	0	1	1	1	1	0	1	2	5	0	1	5	8			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59564776G>T	ENST00000337979.4	+	10	1354	c.807G>T	c.(805-807)gtG>gtT	p.V269V	STX3_ENST00000529177.1_Intron|STX3_ENST00000437946.2_Intron|STX3_ENST00000300150.7_Silent_p.V238V|STX3_ENST00000535361.1_Silent_p.V232V	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	269					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TTATCATTGTGCTAGTAGTTG	0.363																																						uc001nog.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(805-807)gtG>gtT		Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.							269	239	249					11																	59564776		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59564776G>T	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.807G>T	11.37:g.59564776G>T						STX3_uc010rkx.2_Intron|STX3_uc010rky.2_Intron|STX3_uc009ymt.1_Silent_p.V135V	p.V269V	NM_004177	NP_004168	Q13277	STX3_HUMAN			9	1354	+			269					B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.807G>T	CCDS7975.1																																																																																				0.363	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		T	59564776	G	T	59564776	2	4	108	1	0	0	0	0	0	0	0	1	15345	1306	46	5		5	STX3	11	59564776	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	353766	59564776	75441740	36	7417											
SLC3A2	6520	broad.mit.edu	37	chr11	62652817	62652817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgccactggcaatcgctgGtgcagctggagtgtgagtac	9	9	14	9	1	0	1	0	1	0	0	1	2	0	2	1	3	4	5	1	3	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:62652817G>T	ENST00000377890.2	+	9	1458	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	SLC3A2_ENST00000377889.2_Missense_Mutation_p.W368C|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377892.1_Missense_Mutation_p.W461C|SLC3A2_ENST00000338663.7_Missense_Mutation_p.W329C|SLC3A2_ENST00000535296.1_Missense_Mutation_p.W399C|SLC3A2_ENST00000377891.2_Missense_Mutation_p.W431C	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	430					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGCTGGTGCAGCTGGA	0.517																																						uc001nwd.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(1288-1290)tgG>tgT		Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.							89	90	90					11																	62652817		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62652817G>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1290G>T	11.37:g.62652817G>T	ENSP00000367122:p.Trp430Cys					SLC3A2_uc001nwc.3_Missense_Mutation_p.W431C|SLC3A2_uc001nwf.3_Missense_Mutation_p.W368C|SLC3A2_uc001nwg.3_Missense_Mutation_p.W329C	p.W430C	NM_002394	NP_001013269	P08195	4F2_HUMAN			8	1548	+			430					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1290G>T	CCDS8039.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.044994|3.044994	0.55110|0.55110	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000539507|ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	.|D;D;D;D;D;D	.|0.99060	.|-4.94;-4.94;-4.94;-4.94;-5.38;-4.94	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.300651	.|0.35970	.|N	.|0.002872	D|D	0.99278|0.99278	0.9748|0.9748	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.83275	.|0.996;0.966;0.98;0.966;0.966	D|D	0.99000|0.99000	1.0811|1.0811	5|10	.|0.72032	.|D	.|0.01	-8.2263|-8.2263	13.7072|13.7072	0.62646|0.62646	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368;399;430;329;461	.|P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.|.;.;4F2_HUMAN;.;.	L|C	57|461;431;430;431;368;399;329;311	.|ENSP00000367124:W461C;ENSP00000367123:W431C;ENSP00000367122:W430C;ENSP00000367121:W368C;ENSP00000444236:W399C;ENSP00000340815:W329C	.|ENSP00000340815:W329C	V|W	+|+	1|3	0|0	SLC3A2|SLC3A2	62409393|62409393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.624000|0.624000	0.37722|0.37722	5.153000|5.153000	0.64888|0.64888	2.288000|2.288000	0.76882|0.76882	0.313000|0.313000	0.20887|0.20887	GTG|TGG		0.517	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		T	62652817	G	T	62652817	3	4	108	1	0	0	0	0	1	0	0	0	14627	1270	44	5	1424	5	SLC3A2	11	62652817	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	3088041	62652817	72353699	37	7418											
MFAP5	8076	broad.mit.edu	37	chr12	8813465	8813465	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggttcacctacctcctcGttgactattgacccccaggg	8	10	9	14	1	1	2	1	2	0	0	3	2	2	2	5	2	1	2	5	2	3	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:8813465G>A	ENST00000359478.2	-	3	275	c.88C>T	c.(88-90)Cga>Tga	p.R30*	MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000396549.2_Nonsense_Mutation_p.R30*|MFAP5_ENST00000540087.1_Nonsense_Mutation_p.R30*|MFAP5_ENST00000535336.1_Nonsense_Mutation_p.R30*|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Nonsense_Mutation_p.R30*	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	30					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CTACCTCCTCGTTGACTATTG	0.438																																						uc001qut.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(88-90)Cga>Tga		Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.							89	88	88					12																	8813465		2203	4300	6503	SO:0001587	stop_gained	8076					microfibril	extracellular matrix structural constituent	g.chr12:8813465G>A	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.88C>T	12.37:g.8813465G>A	ENSP00000352455:p.Arg30*					MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30*	p.R30*	NM_003480	NP_003471	Q13361	MFAP5_HUMAN			2	301	-	Lung SC(5;0.184)		30					B0AZL6|D3DUV1|Q7Z490	Nonsense_Mutation	SNP	ENST00000359478.2	37	c.88C>T	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411614	0.83340	.	.	ENSG00000197614	ENST00000359478;ENST00000433590;ENST00000396549;ENST00000535336;ENST00000540087;ENST00000544889	.	.	.	4.81	1.87	0.25490	.	0.165528	0.28901	N	0.013777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0776	7.533	0.27693	0.0:0.182:0.5017:0.3162	.	.	.	.	X	30	.	ENSP00000352455:R30X	R	-	1	2	MFAP5	8704732	1.000000	0.71417	0.664000	0.29753	0.214000	0.24535	1.182000	0.32029	0.278000	0.22164	0.655000	0.94253	CGA		0.438	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		A	8813465	G	A	8813465	4	1	108	1	0	0	0	0	0	1	0	0	9518	1153	40	1	465	1	MFAP5	12	8813465	Nonsense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		8813465	125038430	38	7419											
CD63	967	broad.mit.edu	37	chr12	56120552	56120552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaattctccatctgctgccGgaagttgttattaaactctg	9	15	8	9	1	3	0	0	0	3	0	4	1	3	1	2	1	3	4	2	1	5	5	rs200393279		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:56120552G>A	ENST00000549117.1	-	5	794	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CD63_ENST00000548160.1_Missense_Mutation_p.R27W|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000552754.1_Missense_Mutation_p.R97W|CD63_ENST00000420846.3_Missense_Mutation_p.R120W|CD63_ENST00000552692.1_Missense_Mutation_p.R120W|CD63_ENST00000546939.1_Missense_Mutation_p.R38W|CD63_ENST00000552067.1_Missense_Mutation_p.R27W|CD63_ENST00000550776.1_Missense_Mutation_p.R38W|CD63_ENST00000548898.1_Missense_Mutation_p.R27W|CD63_ENST00000257857.4_Missense_Mutation_p.R120W	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	120					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.R120W(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATCTGCTGCCGGAAGTTGTTA	0.557													G|||	1	0.000199681	0	0	5008	,	,		18913	0.001		0	False		,,,				2504	0				Pancreas(123;1459 1747 6717 18841 37380)	uc001shn.3																			1	Substitution - Missense(1)	p.R120W(2)	lung(1)	kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(358-360)Cgg>Tgg		Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	136	128	131		358,358	3.3	0.5	12		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CD63	NM_001040034.1,NM_001780.4	101,101	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	probably-damaging,probably-damaging	120/237,120/239	56120552	5,13001	2203	4300	6503	SO:0001583	missense	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120552G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.358C>T	12.37:g.56120552G>A	ENSP00000447730:p.Arg120Trp					CD63_uc009znz.3_Missense_Mutation_p.R97W|CD63_uc001sho.3_Missense_Mutation_p.R120W	p.R120W	NM_001780	NP_001771	P08962	CD63_HUMAN			4	543	-			120					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.358C>T	CCDS8890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.99	2.700889	0.48307	9.08E-4	1.16E-4	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173;ENST00000546457	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.2	3.33	0.38152	Tetraspanin, EC2 domain (1);	1.256540	0.05643	N	0.583841	D	0.89511	0.6736	L	0.47190	1.495	0.32200	N	0.577882	D;D;D	0.71674	0.998;0.981;0.981	P;P;P	0.55303	0.72;0.773;0.773	T	0.80948	-0.1154	10	0.72032	D	0.01	.	10.8995	0.47043	0.0:0.0:0.6573:0.3427	.	97;120;120	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	W	27;27;120;27;38;120;120;120;97;38;120;120;120	ENSP00000447938:R27W;ENSP00000449684:R27W;ENSP00000393502:R120W;ENSP00000449654:R27W;ENSP00000447356:R38W;ENSP00000449337:R120W;ENSP00000447730:R120W;ENSP00000257857:R120W;ENSP00000446807:R97W;ENSP00000448091:R38W;ENSP00000449281:R120W;ENSP00000446752:R120W;ENSP00000450191:R120W	ENSP00000257857:R120W	R	-	1	2	CD63	54406819	0.926000	0.31397	0.507000	0.27676	0.173000	0.22820	1.247000	0.32815	0.681000	0.31386	-0.293000	0.09583	CGG		0.557	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			A	56120552	G	A	56120552	3	1	108	1	0	0	0	0	1	0	0	0	3029	1115	39	2	374	2	CD63	12	56120552	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	47307087	56120552	77731343	39	7420											
TMEM132B	114795	broad.mit.edu	37	chr12	126138636	126138636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgcctttacaagcttcCccactcaagggaagtcaccg	11	8	8	14	1	2	1	2	0	0	1	3	2	3	2	4	1	3	1	4	1	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:126138636C>T	ENST00000299308.3	+	9	2625	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P385S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	873						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACAAGCTTCCCCACTCAAGG	0.507																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2617-2619)Ccc>Tcc		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							66	64	65					12																	126138636		1936	4127	6063	SO:0001583	missense	114795					integral to membrane		g.chr12:126138636C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2617C>T	12.37:g.126138636C>T	ENSP00000299308:p.Pro873Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S	p.P873S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2625	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		873					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2617C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533051	0.85812	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.15603	2.41;2.41	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000006	T	0.42585	0.1209	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24693	-1.0153	10	0.72032	D	0.01	.	19.2594	0.93961	0.0:1.0:0.0:0.0	.	873	Q14DG7	T132B_HUMAN	S	873;385	ENSP00000299308:P873S;ENSP00000440436:P385S	ENSP00000299308:P873S	P	+	1	0	TMEM132B	124704589	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.790000	0.69038	2.543000	0.85770	0.655000	0.94253	CCC		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126138636	C	T	126138636	3	4	108	1	0	0	0	0	1	0	0	0	16043	623	22	3	2651	3	TMEM132B	12	126138636	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	70018084	126138636	7713259	40	7421											
EP400	57634	broad.mit.edu	37	chr12	132514624	132514624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgattcttatgttggAcattttagagatgttcttga	11	17	9	4	0	2	4	0	2	2	2	2	6	2	5	0	1	0	2	0	1	2	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:132514624A>G	ENST00000333577.4	+	30	5892	c.5783A>G	c.(5782-5784)gAc>gGc	p.D1928G	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389562.2_Missense_Mutation_p.D1891G|EP400_ENST00000330386.6_Missense_Mutation_p.D1811G|EP400_ENST00000389561.2_Missense_Mutation_p.D1892G|EP400_ENST00000332482.4_Missense_Mutation_p.D1855G			Q96L91	EP400_HUMAN	E1A binding protein p400	1928	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTATGTTGGACATTTTAGAG	0.413																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5674-5676)gAc>gGc		Homo sapiens E1A binding protein p400 (EP400), mRNA.							217	199	205					12																	132514624		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132514624A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5783A>G	12.37:g.132514624A>G	ENSP00000333602:p.Asp1928Gly					EP400_uc021rgq.1_Missense_Mutation_p.D1891G|EP400_uc001ujm.3_Missense_Mutation_p.D1811G|SNORA49_uc001ujo.3_5'Flank	p.D1892G	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	28	5827	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1928					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5675A>G		.	.	.	.	.	.	.	.	.	.	A	16.75	3.208661	0.58343	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;T	0.93859	-3.3;-3.3;-3.3;-3.3;-1.2	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96361	0.8813	M	0.72576	2.205	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96760	0.9560	10	0.87932	D	0	.	16.4886	0.84191	1.0:0.0:0.0:0.0	.	1892;1811;1891	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	G	1928;1892;1891;1855;1811;1892	ENSP00000333602:D1928G;ENSP00000374212:D1892G;ENSP00000374213:D1891G;ENSP00000331737:D1855G;ENSP00000330620:D1811G	ENSP00000330620:D1811G	D	+	2	0	EP400	131080577	1.000000	0.71417	0.759000	0.31340	0.942000	0.58702	9.339000	0.96797	2.293000	0.77203	0.528000	0.53228	GAC		0.413	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132514624	A	G	132514624	3	3	108	1	0	0	0	0	1	0	0	0	5149	275	10	4	5782	4	EP400	12	132514624	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	6375988	132514624	1337271	41	7422											
FLT1	2321	broad.mit.edu	37	chr13	28896953	28896953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcaacatcactcagaCttttatcttcctgaaagccg	10	13	4	14	1	4	2	3	1	1	1	6	2	6	2	3	0	2	0	3	0	3	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:28896953C>T	ENST00000282397.4	-	21	3178	c.2927G>A	c.(2926-2928)aGt>aAt	p.S976N	FLT1_ENST00000540678.1_Missense_Mutation_p.S194N|FLT1_ENST00000543394.1_5'Flank	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	976	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCACTCAGACTTTTATCTTC	0.438																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2926-2928)aGt>aAt		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						168	154	159					13																	28896953		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28896953C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2927G>A	13.37:g.28896953C>T	ENSP00000282397:p.Ser976Asn					FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N	p.S976N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	20	3212	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	976			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2927G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290604	0.80914	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.79454	-1.06;-1.27	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.175050	0.64402	D	0.000017	T	0.69205	0.3085	N	0.17764	0.52	0.80722	D	1	P	0.34724	0.465	B	0.39027	0.288	T	0.69213	-0.5204	10	0.42905	T	0.14	.	15.7841	0.78289	0.0:0.8646:0.1354:0.0	.	976	P17948	VGFR1_HUMAN	N	976;194	ENSP00000282397:S976N;ENSP00000443311:S194N	ENSP00000282397:S976N	S	-	2	0	FLT1	27794953	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.552000	0.60747	2.822000	0.97130	0.556000	0.70494	AGT		0.438	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	28896953	C	T	28896953	3	4	108	1	0	0	0	0	1	0	0	0	5941	565	20	3	1129	3	FLT1	13	28896953	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		28896953	86272925	42	7423											
PCCA	5095	broad.mit.edu	37	chr13	100915068	100915068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatttattgataatcctCgtcatatagaaatccaggtt	16	14	5	6	1	1	2	1	1	0	1	4	2	3	2	2	1	0	1	2	1	7	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:100915068C>T	ENST00000376285.1	+	10	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	PCCA_ENST00000376286.4_Missense_Mutation_p.R242C|PCCA_ENST00000376279.3_Missense_Mutation_p.R268C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	268	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAATCCTCGTCATATAGA	0.279																																						uc001voo.3																			0		p.R268H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(802-804)Cgt>Tgt		Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Biotin(DB00121)						100	116	110					13																	100915068		2199	4299	6498	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100915068C>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.802C>T	13.37:g.100915068C>T	ENSP00000365462:p.Arg268Cys					PCCA_uc010aga.3_Missense_Mutation_p.R242C|PCCA_uc010tiz.2_Missense_Mutation_p.R268C	p.R268C	NM_000282	NP_000273	P05165	PCCA_HUMAN			9	908	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		268			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.802C>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557348	0.65425	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97941	-4.62;-4.62;-4.62	5.23	5.23	0.72850	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97762	1.0221	10	0.87932	D	0	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	268;242;268	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	C	242;268;268	ENSP00000365463:R242C;ENSP00000365456:R268C;ENSP00000365462:R268C	ENSP00000365456:R268C	R	+	1	0	PCCA	99713069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.293000	0.59037	2.416000	0.81992	0.655000	0.94253	CGT		0.279	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			T	100915068	C	T	100915068	3	4	108	1	0	0	0	0	1	0	0	0	11504	884	31	2	840	2	PCCA	13	100915068	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	72018115	100915068	14254810	43	7424											
GRTP1	79774	broad.mit.edu	37	chr13	114009782	114009782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcgggacccctttccGgacatagcgcttcactgaag	8	8	10	15	3	1	1	1	1	0	0	3	3	3	3	4	2	2	1	4	2	2	3	rs376648575		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:114009782G>A	ENST00000375431.4	-	3	270	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	GRTP1_ENST00000375430.4_Missense_Mutation_p.R66W|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000326039.3_5'Flank	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	66							Rab GTPase activator activity (GO:0005097)	p.R66W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCCCTTTCCGGACATAGCGC	0.657																																						uc010tkc.2																			1	Substitution - Missense(1)	p.R66W(2)	endometrium(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(196-198)Cgg>Tgg		Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	32	32	32		196	2.3	1	13		32	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRTP1	NM_024719.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	66/337	114009782	1,13005	2203	4300	6503	SO:0001583	missense	79774					intracellular	Rab GTPase activator activity	g.chr13:114009782G>A	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.196C>T	13.37:g.114009782G>A	ENSP00000364580:p.Arg66Trp					GRTP1_uc001vtn.3_Missense_Mutation_p.R66W|GRTP1_uc010tkb.2_5'UTR|GRTP1_uc010agv.1_Non-coding_Transcript	p.R66W	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		2	293	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	66					B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.196C>T	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629421	0.67015	0.0	1.16E-4	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.04551	3.6;3.6	4.37	2.34	0.29019	Rab-GAP/TBC domain (2);	0.000000	0.85682	U	0.000000	T	0.26122	0.0637	M	0.93939	3.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13124	-1.0521	10	0.87932	D	0	.	10.2057	0.43112	0.0:0.0:0.3811:0.6189	.	66;66	B9A6K2;Q5TC63	.;GRTP1_HUMAN	W	66	ENSP00000364580:R66W;ENSP00000364579:R66W	ENSP00000364579:R66W	R	-	1	2	GRTP1	113057783	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	2.530000	0.45641	0.984000	0.38629	0.491000	0.48974	CGG		0.657	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		A	114009782	G	A	114009782	3	1	108	1	0	0	0	0	1	0	0	0	6810	1115	39	2	838	2	GRTP1	13	114009782	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	13094714	114009782	1160096	44	7425											
CMA1	1215	broad.mit.edu	37	chr14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacaatgagcagccGtcagcacaaagttccgtctt	10	10	8	13	2	2	1	1	1	1	0	4	1	4	1	3	0	4	4	3	0	2	3	rs13306251	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr14:24976583G>A	ENST00000250378.3	-	2	217	c.188C>T	c.(187-189)aCg>aTg	p.T63M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													G|||	5	0.000998403	0	0	5008	,	,		19023	0.001		0	False		,,,				2504	0.0041					uc001wpp.1																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(187-189)aCg>aTg		Homo sapiens chymase 1, mast cell (CMA1), mRNA.		G	MET/THR	0,4406		0,0,2203	132	126	128		188	5	1	14	dbSNP_121	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	CMA1	NM_001836.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/248	24976583	1,13005	2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976583G>A		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.188C>T	14.37:g.24976583G>A	ENSP00000250378:p.Thr63Met					CMA1_uc010alx.1_Intron	p.T63M	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	1	218	-			63			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.188C>T	CCDS9630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.63	3.666101	0.67700	0.0	1.16E-4	ENSG00000092009	ENST00000250378	D	0.81908	-1.55	5.01	5.01	0.66863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000056	D	0.93239	0.7846	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	D	0.94940	0.8090	10	0.72032	D	0.01	.	14.0034	0.64446	0.0:0.0:1.0:0.0	rs13306251;rs13306251	63	P23946	CMA1_HUMAN	M	63	ENSP00000250378:T63M	ENSP00000250378:T63M	T	-	2	0	CMA1	24046423	0.998000	0.40836	0.955000	0.39395	0.773000	0.43773	3.381000	0.52455	2.766000	0.95052	0.655000	0.94253	ACG		0.488	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			A	24976583	G	A	24976583	3	1	108	1	0	0	0	0	1	0	0	0	3574	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		24976583	82372957	45	7426											
KIAA1409	57578	broad.mit.edu	37	chr14	94103593	94103593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggaaacgccagtgtaaCgtgccaacgtgcctaaaccc	11	6	10	14	3	0	0	0	0	0	0	0	1	0	1	5	1	6	1	5	1	5	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr14:94103593C>T	ENST00000393151.2	+	33	5865	c.5865C>T	c.(5863-5865)aaC>aaT	p.N1955N	UNC79_ENST00000553484.1_Silent_p.N1977N|UNC79_ENST00000256339.4_Silent_p.N1778N|UNC79_ENST00000555664.1_Silent_p.N1916N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1955					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N1977K(1)|p.N1778K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						gccagtgtaacgtgccaacgt	0.468																																						uc001ybv.1																			2	Substitution - Missense(2)	p.N1977K(1)|p.N1778K(1)	lung(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5398-5400)aaC>aaT		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							157	116	130					14																	94103593		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94103593C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5865C>T	14.37:g.94103593C>T						UNC79_uc001ybs.1_Silent_p.N1778N	p.N1800N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			30	5483	+			1955					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5400C>T																																																																																					0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94103593	C	T	94103593	2	4	108	1	0	0	0	0	0	0	0	1	8230	535	19	1		1	KIAA1409	14	94103593	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	69127010	94103593	13245947	46	7427											
GABRA5	2558	broad.mit.edu	37	chr15	27193304	27193304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtattcccagtcttgttcgGcactttcaacttagtttact	7	17	6	11	2	2	0	1	0	1	0	4	0	3	0	1	1	2	4	1	1	4	8			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:27193304G>A	ENST00000335625.5	+	11	2201	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	GABRA5_ENST00000355395.5_Missense_Mutation_p.G438D|GABRA5_ENST00000400081.3_Missense_Mutation_p.G438D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	438					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GTCTTGTTCGGCACTTTCAAC	0.438																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1312-1314)gGc>gAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						37	35	36					15																	27193304		1836	4094	5930	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193304G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1313G>A	15.37:g.27193304G>A	ENSP00000335592:p.Gly438Asp					GABRA5_uc021sgi.1_Missense_Mutation_p.G438D|GABRA5_uc001zbe.1_Non-coding_Transcript	p.G438D	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1845	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	438					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1313G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012805	0.75161	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85861	-2.04;-2.04;-2.04	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.048250	0.85682	N	0.000000	D	0.90573	0.7045	M	0.69358	2.11	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.90673	0.4599	10	0.54805	T	0.06	.	13.5119	0.61517	0.0:0.1564:0.8436:0.0	.	438	P31644	GBRA5_HUMAN	D	438	ENSP00000335592:G438D;ENSP00000347557:G438D;ENSP00000382953:G438D	ENSP00000335592:G438D	G	+	2	0	GABRA5	24776050	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.411000	0.73298	2.503000	0.84419	0.655000	0.94253	GGC		0.438	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27193304	G	A	27193304	3	1	108	1	0	0	0	0	1	0	0	0	6164	1203	42	3	1347	3	GABRA5	15	27193304	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		27193304	75338088	47	7428											
PCSK6	5046	broad.mit.edu	37	chr15	101971636	101971636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctggacattcatttcCgaccggcagcgactgttctt	6	12	10	13	3	2	0	1	0	1	0	3	3	3	1	3	2	2	3	3	2	0	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:101971636C>T	ENST00000348070.1	-	5	542	c.543G>A	c.(541-543)tcG>tcA	p.S181S	PCSK6_ENST00000358417.3_Silent_p.S181S|PCSK6_ENST00000398181.2_Silent_p.S181S|PCSK6_ENST00000344273.2_Silent_p.S181S|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.S16S	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	182					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCATTTCCGACCGGCAGC	0.532																																						uc002bxa.2																			0		p.R180W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(541-543)tcG>tcA		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							69	70	70					15																	101971636		2062	4212	6274	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101971636C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.543G>A	15.37:g.101971636C>T						PCSK6_uc010bpd.3_Silent_p.S52S|PCSK6_uc002bwy.3_Silent_p.S181S|PCSK6_uc010bpe.3_Silent_p.S178S|PCSK6_uc002bxb.2_Silent_p.S181S|PCSK6_uc002bxc.1_Silent_p.S181S|PCSK6_uc002bxd.1_Silent_p.S181S|PCSK6_uc002bxe.3_Silent_p.S181S|PCSK6_uc002bxg.1_Silent_p.S181S	p.S181S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	857	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		182			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.543G>A																																																																																					0.532	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		T	101971636	C	T	101971636	2	4	108	1	0	0	0	0	0	0	0	1	11604	639	23	2		2	PCSK6	15	101971636	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	74778332	101971636	559756	48	7429											
EDC4	23644	broad.mit.edu	37	chr16	67917522	67917522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtatgtgtgtgaaactgtgGacccagcccaggtttttggg	7	13	14	7	0	0	1	0	1	0	0	0	2	0	2	2	3	2	2	2	3	2	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:67917522G>A	ENST00000358933.5	+	28	4140	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	NRN1L_ENST00000339176.3_5'Flank|NRN1L_ENST00000576147.1_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1301					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGAAACTGTGGACCCAGCCCA	0.547											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eur.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(3901-3903)Gac>Aac		Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.							168	177	174					16																	67917522		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67917522G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3901G>A	16.37:g.67917522G>A	ENSP00000351811:p.Asp1301Asn		OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	EDC4_uc010cer.3_Missense_Mutation_p.D920N|EDC4_uc002eus.3_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.3_5'Flank	p.D1301N	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	27	4140	+		Ovarian(137;0.0563)	1301					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.3901G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408966	0.96072	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.52	5.52	0.82312	.	0.043748	0.85682	D	0.000000	T	0.61464	0.2349	M	0.64404	1.975	0.80722	D	1	P	0.50443	0.935	P	0.45406	0.479	T	0.60546	-0.7242	9	0.31617	T	0.26	-22.5554	19.0455	0.93018	0.0:0.0:1.0:0.0	.	1301	Q6P2E9	EDC4_HUMAN	N	1301	.	ENSP00000351811:D1301N	D	+	1	0	EDC4	66475023	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.578000	0.98200	2.597000	0.87782	0.655000	0.94253	GAC		0.547	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		A	67917522	G	A	67917522	3	1	108	1	0	0	0	0	1	0	0	0	4908	1174	41	3	4011	3	EDC4	16	67917522	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		67917522	22437231	49	7430											
PDPR	55066	broad.mit.edu	37	chr16	70172800	70172800	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgccctctgtctatatAggtaccttgccgaatggatg	8	12	10	11	2	2	0	0	0	2	0	2	2	2	1	3	2	3	1	3	2	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:70172800A>G	ENST00000288050.4	+	11	2147		c.e11-1		PDPR_ENST00000398122.3_Splice_Site|PDPR_ENST00000568530.1_Splice_Site|PDPR_ENST00000562100.1_Splice_Site	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit						cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTCTATATAGGTACCTTGC	0.443																																						uc002eyf.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.e11-2		Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.							72	75	74					16																	70172800		1884	4124	6008	SO:0001630	splice_region_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70172800A>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1191-1A>G	16.37:g.70172800A>G						CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice	p.K397_splice	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	11	2148	+			397					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Splice_Site	SNP	ENST00000288050.4	37	c.1191_splice	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.504308	0.64410	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4915	0.55903	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDPR	68730301	1.000000	0.71417	0.927000	0.36925	0.320000	0.28249	9.084000	0.94076	1.535000	0.49220	0.254000	0.18369	.		0.443	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	Intron	G	70172800	A	G	70172800	5	3	108	1	0	0	0	0	0	0	1	0	11689	434	15	4	1223	4	PDPR	16	70172800	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	2255278	70172800	20181953	50	7431											
PIK3R5	23533	broad.mit.edu	37	chr17	8784974	8784974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttcttggatttggaGttctgccttttcaccacttc	6	16	7	12	0	3	0	1	0	2	0	4	2	3	2	3	2	2	1	3	2	1	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:8784974G>A	ENST00000447110.1	-	17	2479	c.2355C>T	c.(2353-2355)aaC>aaT	p.N785N	PIK3R5_ENST00000581552.1_Silent_p.N785N|PIK3R5_ENST00000584803.1_Silent_p.N784N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	785					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGGATTTGGAGTTCTGCCTTT	0.547																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2353-2355)aaC>aaT		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.							206	180	189					17																	8784974		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784974G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2355C>T	17.37:g.8784974G>A						PIK3R5_uc010vuz.2_Silent_p.N785N|PIK3R5_uc021tqc.1_Silent_p.N399N|PIK3R5_uc010cob.2_Silent_p.N399N|PIK3R5_uc010coa.2_Silent_p.N399N|PIK3R5_uc002glu.4_Silent_p.N399N	p.N785N	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN			16	2422	-			785					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2355C>T	CCDS11147.1																																																																																				0.547	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8784974	G	A	8784974	2	1	108	1	0	0	0	0	0	0	0	1	11922	1020	36	3		3	PIK3R5	17	8784974	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		8784974	72410236	51	7432											
SPACA3	124912	broad.mit.edu	37	chr17	31322667	31322667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccaagctctacggtcGttgtgaactggccagagtgc	8	9	14	10	2	1	3	0	2	1	1	2	3	1	3	2	3	4	2	2	3	3	2	rs368023924		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:31322667G>A	ENST00000269053.3	+	2	345	c.275G>A	c.(274-276)cGt>cAt	p.R92H	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000580599.1_Missense_Mutation_p.R23H|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	92					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.R92H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTACGGTCGTTGTGAACTG	0.617																																						uc002hhs.1																			1	Substitution - Missense(1)	p.R92H(2)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(274-276)cGt>cAt		Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.		G	HIS/ARG	0,4406		0,0,2203	106	70	82		275	3.7	1	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA3	NM_173847.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/216	31322667	1,13005	2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322667G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.275G>A	17.37:g.31322667G>A	ENSP00000269053:p.Arg92His					SPACA3_uc010cte.1_Non-coding_Transcript	p.R92H	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		1	350	+			92					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.275G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	15.44	2.832902	0.50951	0.0	1.16E-4	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.73681	-0.77	3.67	3.67	0.42095	Lysozyme-like domain (1);	0.158649	0.35708	N	0.003025	D	0.85835	0.5789	M	0.91249	3.19	0.80722	D	1	D	0.64830	0.994	P	0.59056	0.851	D	0.86669	0.1909	10	0.87932	D	0	-1.3152	11.1864	0.48660	0.0:0.0:1.0:0.0	.	92	Q8IXA5	SACA3_HUMAN	H	92;93	ENSP00000269053:R92H	ENSP00000269053:R92H	R	+	2	0	SPACA3	28346780	0.994000	0.37717	0.990000	0.47175	0.101000	0.19017	3.292000	0.51772	0.455000	0.26910	-0.411000	0.06167	CGT		0.617	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		A	31322667	G	A	31322667	3	1	108	1	0	0	0	0	1	0	0	0	14973	1145	40	1	281	1	SPACA3	17	31322667	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	22537693	31322667	49872543	52	7433											
C17orf57	124989	broad.mit.edu	37	chr17	45490276	45490276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttaactgttgtaacGtcagtggtgagcattttttt	9	16	9	7	1	1	1	1	1	0	0	1	1	1	1	1	1	4	3	1	1	3	6			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:45490276G>A	ENST00000331493.2	+	22	2827	c.2416G>A	c.(2416-2418)Gtc>Atc	p.V806I	CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Missense_Mutation_p.V710I	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	806	EF-hand 5.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTGTTGTAACGTCAGTGGTGA	0.353																																						uc002iln.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						c.(2416-2418)Gtc>Atc		Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.							129	129	129					17																	45490276		2203	4300	6503	SO:0001583	missense	124989						calcium ion binding	g.chr17:45490276G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2416G>A	17.37:g.45490276G>A	ENSP00000332111:p.Val806Ile					C17orf57_uc002ilm.3_Missense_Mutation_p.V710I	p.V806I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			21	2847	+			806			EF-hand 5.		G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.2416G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058750	0.01950	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.23754	1.89;1.89	3.24	0.474	0.16768	EF-hand-like domain (1);	0.924169	0.09074	N	0.852374	T	0.07954	0.0199	N	0.01109	-1.01	0.09310	N	1	B;B	0.19445	0.036;0.001	B;B	0.09377	0.004;0.001	T	0.29822	-0.9999	10	0.42905	T	0.14	-0.039	5.373	0.16150	0.7284:0.0:0.2716:0.0	.	806;710	Q8IY85;G3V128	CQ057_HUMAN;.	I	806;710	ENSP00000332111:V806I;ENSP00000430048:V710I	ENSP00000332111:V806I	V	+	1	0	C17orf57	42845275	0.000000	0.05858	0.054000	0.19295	0.156000	0.22039	-0.135000	0.10420	-0.001000	0.14495	-0.676000	0.03789	GTC		0.353	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		A	45490276	G	A	45490276	3	1	108	1	0	0	0	0	1	0	0	0	1865	1145	40	1	2490	1	C17orf57	17	45490276	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	14167609	45490276	35704934	53	7434											
SPAG9	9043	broad.mit.edu	37	chr17	49071128	49071128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatgactcactcttacctgGcacacttgcaatgcacagaa	12	9	7	13	0	2	2	1	1	1	1	2	2	2	2	1	1	3	4	1	1	3	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:49071128G>A	ENST00000262013.7	-	19	2603	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	SPAG9_ENST00000505279.1_Missense_Mutation_p.P789S|SPAG9_ENST00000357122.4_Missense_Mutation_p.P785S|SPAG9_ENST00000510283.1_Missense_Mutation_p.P642S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	799					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTTACCTGGCACACTTGCA	0.483																																						uc002itc.3																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2395-2397)Cca>Tca		Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.							98	76	83					17																	49071128		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49071128G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2395C>T	17.37:g.49071128G>A	ENSP00000262013:p.Pro799Ser					SPAG9_uc002itd.3_Missense_Mutation_p.P789S|SPAG9_uc002itb.3_Missense_Mutation_p.P785S|SPAG9_uc002itf.3_Missense_Mutation_p.P620S|SPAG9_uc002ita.3_Missense_Mutation_p.P642S|SPAG9_uc002ite.3_Missense_Mutation_p.P629S	p.P799S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		18	2604	-			799					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2395C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199626	0.94997	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.32988	1.44;1.44;1.43;1.44	5.93	5.93	0.95920	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.65498	2.005	0.80722	D	1	D;D;P;P;P;B	0.64830	0.984;0.994;0.939;0.762;0.735;0.378	P;D;P;B;B;B	0.63877	0.833;0.919;0.721;0.411;0.284;0.359	T	0.45279	-0.9272	10	0.42905	T	0.14	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	785;799;789;799;785;642	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	S	799;556;546;336;642;789;785;397	ENSP00000262013:P799S;ENSP00000423165:P642S;ENSP00000426900:P789S;ENSP00000349636:P785S	ENSP00000262013:P799S	P	-	1	0	SPAG9	46426127	1.000000	0.71417	0.992000	0.48379	0.809000	0.45718	9.380000	0.97202	2.805000	0.96524	0.655000	0.94253	CCA		0.483	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		A	49071128	G	A	49071128	3	1	108	1	0	0	0	0	1	0	0	0	14985	1203	42	3	1618	3	SPAG9	17	49071128	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	3580852	49071128	32124082	54	7435											
C18orf34	374864	broad.mit.edu	37	chr18	30825371	30825371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatattttatttcagattcGtattttgattttttccgtat	10	23	4	4	2	1	2	1	1	0	1	3	2	2	2	1	0	0	2	1	0	5	12	rs200500512		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:30825371G>A	ENST00000383096.3	-	15	1613	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	CCDC178_ENST00000579947.1_Silent_p.Y477Y|CCDC178_ENST00000406524.2_Silent_p.Y477Y|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Silent_p.Y477Y|CCDC178_ENST00000402325.1_Silent_p.Y477Y|CCDC178_ENST00000300227.8_Silent_p.Y477Y|CCDC178_ENST00000583930.1_Silent_p.Y477Y			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	477																	TTTCAGATTCGTATTTTGATT	0.259													G|||	1	0.000199681	8e-04	0	5008	,	,		17021	0		0	False		,,,				2504	0					uc010xbr.1																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						c.(1429-1431)taC>taT		Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.		G	,	2,4400	2.1+/-5.4	0,2,2199	75	69	71		1431,1431	-3.5	0	18		71	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	C18orf34	NM_001105528.1,NM_198995.2	,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,	477/868,477/830	30825371	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	374864							g.chr18:30825371G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1431C>T	18.37:g.30825371G>A						C18orf34_uc010dme.1_5'UTR|C18orf34_uc002kxn.2_Silent_p.Y477Y|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.Y477Y|C18orf34_uc002kxp.3_Silent_p.Y477Y	p.Y477Y	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			13	1573	-			477					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.1431C>T	CCDS42424.1																																																																																				0.259	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30825371	G	A	30825371	2	1	108	1	0	0	0	0	0	0	0	1	1902	1140	40	1		1	C18orf34	18	30825371	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		30825371	47251877	55	7436											
CELF4	56853	broad.mit.edu	37	chr18	35145598	35145598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctaacgtggccatctttaTatacatagagaaaatcttct	13	14	6	8	1	3	1	0	0	3	1	3	2	3	1	1	1	3	1	1	1	7	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:35145598T>A	ENST00000591282.1	-	1	6	c.7A>T	c.(7-9)Ata>Tta	p.I3L	CELF4_ENST00000601019.1_Missense_Mutation_p.I3L|CELF4_ENST00000361795.5_Missense_Mutation_p.I3L|CELF4_ENST00000603232.1_Missense_Mutation_p.I3L|CELF4_ENST00000412753.1_Missense_Mutation_p.I3L|CELF4_ENST00000591287.1_Missense_Mutation_p.I3L|CELF4_ENST00000420428.2_Missense_Mutation_p.I3L|CELF4_ENST00000334919.5_Missense_Mutation_p.I3L|CELF4_ENST00000588597.1_Missense_Mutation_p.I3L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	3	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCATCTTTATATACATAGAG	0.537																																						uc002lae.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(7-9)Ata>Tta		Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.							51	52	51					18																	35145598		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:35145598T>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.7A>T	18.37:g.35145598T>A	ENSP00000464794:p.Ile3Leu					CELF4_uc021uix.1_Missense_Mutation_p.I3L|CELF4_uc021uiy.1_Missense_Mutation_p.I3L|CELF4_uc002lag.2_Missense_Mutation_p.I3L|CELF4_uc002laf.2_5'UTR|CELF4_uc002lai.2_5'UTR	p.I3L	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			0	403	-			3			Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.7A>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277786	0.59758	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.73575	-0.69;-0.69;-0.69;-0.76	4.92	4.92	0.64577	.	0.391854	0.18960	N	0.126424	T	0.73969	0.3655	N	0.22421	0.69	0.31695	N	0.641458	P;P;P	0.38863	0.65;0.65;0.518	P;P;P	0.51079	0.658;0.658;0.456	T	0.79460	-0.1794	10	0.72032	D	0.01	-5.7261	15.2784	0.73760	0.0:0.0:0.0:1.0	.	3;3;3	Q9BZC1-3;Q9BZC1-5;Q9BZC1	.;.;CELF4_HUMAN	L	3	ENSP00000355089:I3L;ENSP00000406823:I3L;ENSP00000410584:I3L;ENSP00000335631:I3L	ENSP00000335631:I3L	I	-	1	0	CELF4	33399596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.373000	0.44266	2.142000	0.66516	0.528000	0.53228	ATA		0.537	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		A	35145598	T	A	35145598	3	1	108	1	0	0	0	0	1	0	0	0	3218	1406	49	5	1501	5	CELF4	18	35145598	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08	4320227	35145598	42931650	56	7437											
SERPINB4	6318	broad.mit.edu	37	chr18	61306946	61306946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctttgaaatagattgcGttcacaagaaccagtgtcgt	11	12	9	9	2	1	3	1	1	0	2	2	3	1	3	2	0	3	1	2	0	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	178					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318																																						uc002ljf.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(532-534)aaC>aaT		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							95	95	95					18																	61306946		2202	4299	6501	SO:0001819	synonymous_variant	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61306946G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.534C>T	18.37:g.61306946G>A						SERPINB3_uc002lje.3_Silent_p.N178N|SERPINB3_uc002ljg.3_Intron	p.N178N	NM_002974	NP_002965	P29508	SPB3_HUMAN			5	620	-			178					A8K847	Silent	SNP	ENST00000341074.5	37	c.534C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418253	0.01136	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.27	-5.42	0.02640	.	.	.	.	.	T	0.64327	0.2588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64398	-0.6417	4	.	.	.	.	15.5031	0.75716	0.8871:0.0:0.1129:0.0	.	.	.	.	M	180	.	.	T	-	2	0	SERPINB4	59457926	0.328000	0.24687	0.310000	0.25168	0.001000	0.01503	-0.181000	0.09740	-1.653000	0.01500	-3.130000	0.00060	ACG		0.318	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		A	61306946	G	A	61306946	2	1	108	1	0	0	0	0	0	0	0	1	14103	1136	40	1		1	SERPINB4	18	61306946	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	26161348	61306946	16770302	57	7438											
CYP2F1	1572	broad.mit.edu	37	chr19	41630793	41630793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagggacacggcctttcgCggcttcctgatacccaaggt	8	9	11	13	3	0	1	0	1	0	0	2	2	1	2	3	4	1	1	3	4	3	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:41630793C>T	ENST00000331105.2	+	8	1206	c.1134C>T	c.(1132-1134)cgC>cgT	p.R378R		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	378					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGCCTTTCGCGGCTTCCTGA	0.597																																						uc002opu.1																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(1132-1134)cgC>cgT		Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.							35	27	30					19																	41630793		2203	4299	6502	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630793C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1134C>T	19.37:g.41630793C>T						CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_Non-coding_Transcript	p.R378R	NM_000774	NP_000765	P24903	CP2F1_HUMAN			7	1190	+			378					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1134C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	4.522	0.096803	0.08681	.	.	ENSG00000197446	ENST00000439903	T	0.79749	-1.3	3.13	-1.22	0.09494	.	0.061077	0.64402	U	0.000007	T	0.80439	0.4623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76506	-0.2934	7	0.87932	D	0	.	5.8906	0.18911	0.5288:0.3043:0.1668:0.0	.	.	.	.	W	12	ENSP00000443424:R12W	ENSP00000443424:R12W	R	+	1	2	CYP2F1	46322633	0.000000	0.05858	0.753000	0.31225	0.443000	0.32047	-3.726000	0.00382	0.041000	0.15688	0.089000	0.15464	CGG		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			T	41630793	C	T	41630793	2	4	108	1	0	0	0	0	0	0	0	1	4171	755	27	1		1	CYP2F1	19	41630793	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08		41630793	17498190	58	7439											
ZNF813	126017	broad.mit.edu	37	chr19	53995185	53995185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatcaaaaagcacaccttGcacgtcaccatagacttcat	15	10	4	12	1	3	1	3	0	0	1	3	1	3	1	2	0	2	2	2	0	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:53995185G>T	ENST00000396403.4	+	4	1827	c.1699G>T	c.(1699-1701)Gca>Tca	p.A567S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGCACACCTTGCACGTCACCA	0.378																																						uc021uzf.1																			0				large_intestine(1)	1								Homo sapiens zinc finger protein 813 (ZNF813), mRNA.							46	48	48					19																	53995185		2197	4297	6494	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995185G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1699G>T	19.37:g.53995185G>T	ENSP00000379684:p.Ala567Ser					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.A567S		NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	0		+									Missense_Mutation	SNP	ENST00000396403.4	37		CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	4.045	0.005979	0.07866	.	.	ENSG00000198346	ENST00000396403	T	0.07444	3.19	1.28	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	N	0.01576	-0.805	0.09310	N	0.999999	B	0.20368	0.044	B	0.24006	0.05	T	0.44329	-0.9335	9	0.39692	T	0.17	.	5.7863	0.18334	0.6587:0.0:0.3413:0.0	.	567	Q6ZN06	ZN813_HUMAN	S	567	ENSP00000379684:A567S	ENSP00000379684:A567S	A	+	1	0	ZNF813	58686997	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-3.965000	0.00324	-0.421000	0.07416	0.187000	0.17357	GCA		0.378	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		T	53995185	G	T	53995185	3	4	108	1	0	0	0	0	1	0	0	0	18172	1319	46	5	1709	5	ZNF813	19	53995185	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	12364392	53995185	5133798	59	7440											
NLRP5	126206	broad.mit.edu	37	chr19	56515184	56515184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcaagatggaaggagaCaaatcgctcaccttttccag	13	10	9	9	1	2	2	2	0	0	2	4	4	3	3	2	2	0	2	2	2	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:56515184C>A	ENST00000390649.3	+	2	165	c.165C>A	c.(163-165)gaC>gaA	p.D55E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	55					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGAAGGAGACAAATCGCTCA	0.423																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(163-165)gaC>gaA		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							121	113	115					19																	56515184		1864	4106	5970	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515184C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.165C>A	19.37:g.56515184C>A	ENSP00000375063:p.Asp55Glu					NLRP5_uc002qmi.3_Missense_Mutation_p.D55E	p.D55E	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	1	165	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	55					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.165C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261907	0.10239	.	.	ENSG00000171487	ENST00000390649	T	0.71698	-0.59	3.09	0.816	0.18768	.	.	.	.	.	T	0.37919	0.1021	N	0.08118	0	0.09310	N	1	B	0.34061	0.436	B	0.27887	0.084	T	0.26292	-1.0107	9	0.07813	T	0.8	.	3.5384	0.07802	0.2474:0.6156:0.0:0.137	.	55	P59047	NALP5_HUMAN	E	55	ENSP00000375063:D55E	ENSP00000375063:D55E	D	+	3	2	NLRP5	61206996	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.214000	0.17541	0.307000	0.22880	0.508000	0.49915	GAC		0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56515184	C	A	56515184	3	1	108	1	0	0	0	0	1	0	0	0	10480	477	17	5	171	5	NLRP5	19	56515184	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	2519999	56515184	2613799	60	7441											
PCK1	5105	broad.mit.edu	37	chr20	56139269	56139269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggctttttcggtgtcGctcctgggacttcagtgaag	8	13	12	8	2	1	1	1	1	0	0	4	2	2	2	1	3	0	2	1	3	3	3	rs574426927	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:56139269G>A	ENST00000319441.4	+	7	1170	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	PCK1_ENST00000543666.1_Missense_Mutation_p.A19T|PCK1_ENST00000535860.1_Missense_Mutation_p.A204T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	336					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTTCGGTGTCGCTCCTGGGAC	0.493													G|||	2	0.000399361	0	0	5008	,	,		19626	0.001		0	False		,,,				2504	0.001					uc002xyn.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1006-1008)Gct>Act		Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.							89	84	86					20																	56139269		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139269G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1006G>A	20.37:g.56139269G>A	ENSP00000319814:p.Ala336Thr					PCK1_uc010zzm.2_Missense_Mutation_p.A19T	p.A336T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1169	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		336					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1006G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202804	0.94997	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.06142	3.34;3.34;3.34	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.67193	-0.5732	10	0.87932	D	0	-15.9358	19.6793	0.95956	0.0:0.0:1.0:0.0	.	19;336	B4DT64;P35558	.;PCKGC_HUMAN	T	18;336;19;204	ENSP00000319814:A336T;ENSP00000445767:A19T;ENSP00000444342:A204T	ENSP00000319814:A336T	A	+	1	0	PCK1	55572675	1.000000	0.71417	0.951000	0.38953	0.798000	0.45092	9.282000	0.95840	2.713000	0.92767	0.655000	0.94253	GCT		0.493	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56139269	G	A	56139269	3	1	108	1	0	0	0	0	1	0	0	0	11581	1087	38	1	1028	1	PCK1	20	56139269	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		56139269	6886251	61	7442											
SLC17A9	63910	broad.mit.edu	37	chr20	61588307	61588307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtgggcggccacctcGgggatcggtaactgcccatc	6	8	15	12	3	0	0	0	0	0	0	3	1	0	1	3	6	2	2	3	6	1	2	rs187226528	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:61588307G>A	ENST00000370351.4	+	2	381	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	SLC17A9_ENST00000370349.3_Missense_Mutation_p.G78R|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	84					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCCACCTCGGGGATCGGTA	0.662													G|||	7	0.00139776	0.0038	0.0029	5008	,	,		15879	0		0	False		,,,				2504	0					uc002yea.4																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(250-252)Ggg>Agg		Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.		G	ARG/GLY	25,4061		0,25,2018	39	45	43		250	4.8	1	20		43	0,8356		0,0,4178	yes	missense	SLC17A9	NM_022082.3	125	0,25,6196	AA,AG,GG		0.0,0.6118,0.2009	possibly-damaging	84/437	61588307	25,12417	2043	4178	6221	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61588307G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.250G>A	20.37:g.61588307G>A	ENSP00000359376:p.Gly84Arg					SLC17A9_uc002ydz.4_Missense_Mutation_p.G78R|SLC17A9_uc011aap.1_Missense_Mutation_p.G104R	p.G84R	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			1	434	+			84					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.250G>A	CCDS42901.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.262724	0.80358	0.006118	0.0	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.59772	0.24;0.24;0.24	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.044146	0.85682	D	0.000000	T	0.47525	0.1450	L	0.43152	1.355	0.42869	D	0.994137	P;P;P	0.47484	0.841;0.896;0.873	P;P;P	0.51193	0.57;0.662;0.531	T	0.57596	-0.7784	10	0.72032	D	0.01	.	6.2744	0.20973	0.2379:0.0:0.7621:0.0	.	104;84;78	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	R	84;78;104	ENSP00000359376:G84R;ENSP00000359374:G78R;ENSP00000388215:G104R	ENSP00000359374:G78R	G	+	1	0	SLC17A9	61058752	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	6.556000	0.73932	2.222000	0.72286	0.655000	0.94253	GGG		0.662	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		A	61588307	G	A	61588307	3	1	108	1	0	0	0	0	1	0	0	0	14424	1116	39	2	256	2	SLC17A9	20	61588307	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	5449038	61588307	1437213	62	7443											
FTHL17	53940	broad.mit.edu	37	chrX	31089936	31089936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctccagggccacgtcGtcccggttgaagtagaaggc	9	8	13	11	3	1	2	0	1	1	1	4	2	2	2	3	3	0	3	3	3	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chrX:31089936G>A	ENST00000359202.3	-	1	234	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	45	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582																																						uc004dcl.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(133-135)gaC>gaT		Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.							92	79	84					X																	31089936		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089936G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.135C>T	X.37:g.31089936G>A							p.D45D	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			0	235	-			45			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.135C>T	CCDS14227.1																																																																																				0.582	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		A	31089936	G	A	31089936	2	1	108	1	0	0	0	0	0	0	0	1	6083	1136	40	1		1	FTHL17	23	31089936	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		31089936	124180624	63	7444											
EPHA10	284656	broad.mit.edu	37	chr1	38197144	38197144	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctcccaggatggcccCggggaagcggcccggatctg	5	5	17	14	3	1	0	0	0	1	0	2	3	2	3	5	7	1	0	5	7	1	0	rs77925917	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:38197144C>T	ENST00000373048.4	-	7	1601	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_ENST00000540011.1_Silent_p.P29P|EPHA10_ENST00000427468.2_Silent_p.P534P|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.P29P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	534	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597													C|||	2	0.000399361	0.0015	0	5008	,	,		16209	0		0	False		,,,				2504	0					uc009vvi.3																			1	Substitution - coding silent(1)	p.S534Y(1)|p.P535P(1)	urinary_tract(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1600-1602)ccG>ccA		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.		C		6,3738		0,6,1866	80	82	81		1602	-7.8	0.9	1	dbSNP_133	81	0,8202		0,0,4101	no	coding-synonymous	EPHA10	NM_001099439.1		0,6,5967	TT,TC,CC		0.0,0.1603,0.0502		534/1009	38197144	6,11940	1872	4101	5973	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197144C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1602G>A	1.37:g.38197144C>T						EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	p.P534P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			6	1688	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	534			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1602G>A	CCDS41305.1																																																																																				0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38197144	C	T	38197144	2	4	109	1	0	0	0	0	0	0	0	1	5166	639	23	2		2	EPHA10	1	38197144	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		38197144	211053477	1	7445											
TMEM69	51249	broad.mit.edu	37	chr1	46159245	46159245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatggagccagtttcctaTctttcttgggtgggatcaga	7	15	11	8	0	3	1	1	0	2	1	4	3	4	3	2	3	1	1	2	3	2	5			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:46159245T>C	ENST00000372025.4	+	3	1569	c.412T>C	c.(412-414)Tct>Cct	p.S138P	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	138						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CAGTTTCCTATCTTTCTTGGG	0.443																																						uc001cor.1																			0				kidney(3)|lung(4)|ovary(1)	8						c.(412-414)Tct>Cct		Homo sapiens transmembrane protein 69 (TMEM69), mRNA.							90	88	89					1																	46159245		1849	4093	5942	SO:0001583	missense	51249					integral to membrane		g.chr1:46159245T>C	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.412T>C	1.37:g.46159245T>C	ENSP00000361095:p.Ser138Pro						p.S138P	NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN			2	608	+	Acute lymphoblastic leukemia(166;0.155)		138					Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	c.412T>C	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147293	0.77888	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.83	3.35	0.38373	.	0.207411	0.51477	D	0.000083	T	0.80149	0.4570	M	0.88775	2.98	0.46981	D	0.999278	D	0.69078	0.997	D	0.70016	0.967	D	0.83503	0.0076	9	0.87932	D	0	-14.5797	12.3045	0.54893	0.0:0.0:0.2769:0.7231	.	138	Q5SWH9	TMM69_HUMAN	P	138	.	ENSP00000361095:S138P	S	+	1	0	TMEM69	45931832	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	3.197000	0.51028	1.019000	0.39547	0.402000	0.26972	TCT		0.443	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		C	46159245	T	C	46159245	3	2	109	1	0	0	0	0	1	0	0	0	16195	1435	50	4	418	4	TMEM69	1	46159245	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	7962101	46159245	203091376	2	7446											
KIAA1324	57535	broad.mit.edu	37	chr1	109737164	109737164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagggccaagcttcacttCcaaagggctgaaatacttcc	11	9	10	11	0	1	1	1	1	0	0	3	2	3	2	3	3	2	2	3	3	4	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:109737164C>T	ENST00000369939.3	+	15	2252	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KIAA1324_ENST00000529753.1_Missense_Mutation_p.S603F|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	690					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCTTCACTTCCAAAGGGCTG	0.493																																						uc021orb.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2068-2070)tCc>tTc		Homo sapiens KIAA1324 (KIAA1324), mRNA.							126	100	109					1																	109737164		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109737164C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2069C>T	1.37:g.109737164C>T	ENSP00000358955:p.Ser690Phe					KIAA1324_uc009wex.2_Missense_Mutation_p.S640F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S588F|KIAA1324_uc009wey.3_Missense_Mutation_p.S603F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	p.S690F	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	14	2290	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	690					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2069C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998947	0.74818	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.03717	3.83;3.83;3.83	5.68	5.68	0.88126	.	0.162273	0.52532	D	0.000063	T	0.09730	0.0239	L	0.60455	1.87	0.35157	D	0.770286	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	P;D;D;P	0.64776	0.885;0.929;0.921;0.885	T	0.01039	-1.1472	10	0.72032	D	0.01	-6.0374	18.5477	0.91053	0.0:1.0:0.0:0.0	.	690;603;690;690	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	F	690;640;603	ENSP00000358955:S690F;ENSP00000393964:S640F;ENSP00000434595:S603F	ENSP00000358955:S690F	S	+	2	0	KIAA1324	109538687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.392000	0.52537	2.678000	0.91216	0.591000	0.81541	TCC		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109737164	C	T	109737164	3	4	109	1	0	0	0	0	1	0	0	0	8223	855	30	3	2127	3	KIAA1324	1	109737164	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	63577919	109737164	139513457	3	7447											
CEP170	9859	broad.mit.edu	37	chr1	243332957	243332957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaggaagaggtgcagaaaAttccattatcctttcttctt	13	14	7	7	0	2	2	0	0	2	2	4	3	4	3	2	2	1	1	2	2	6	6			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:243332957A>G	ENST00000366542.1	-	12	1867	c.1816T>C	c.(1816-1818)Ttt>Ctt	p.F606L	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.F508L|CEP170_ENST00000366544.1_Missense_Mutation_p.F508L|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	606						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTGCAGAAAATTCCATTATC	0.398																																						uc021plo.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(1816-1818)Ttt>Ctt		Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.							11	12	12					1																	243332957		1786	4048	5834	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243332957A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1816T>C	1.37:g.243332957A>G	ENSP00000355500:p.Phe606Leu					CEP170_uc021plp.1_Missense_Mutation_p.F508L|CEP170_uc021plq.1_Missense_Mutation_p.F508L	p.F606L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		11	2224	-	all_neural(11;0.101)	all_cancers(173;0.003)	606					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1816T>C	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.944|0.944	-0.708640|-0.708640	0.03230|0.03230	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000522895	T;T;T|.	0.39406|.	1.08;1.1;1.1|.	4.66|4.66	3.53|3.53	0.40419|0.40419	.|.	0.835549|.	0.10796|.	N|.	0.633204|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.04508|0.04508	-0.205|-0.205	0.43642|0.43642	D|D	0.996049|0.996049	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.03795|0.03795	-1.1003|-1.1003	10|5	0.24483|.	T|.	0.36|.	-0.0526|-0.0526	4.9705|4.9705	0.14113|0.14113	0.7515:0.0:0.0873:0.1612|0.7515:0.0:0.0873:0.1612	.|.	508;508;606|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	L|T	606;508;508|134	ENSP00000355500:F606L;ENSP00000355502:F508L;ENSP00000355501:F508L|.	ENSP00000355500:F606L|.	F|I	-|-	1|2	0|0	CEP170|CEP170	241399580|241399580	0.311000|0.311000	0.24536|0.24536	0.977000|0.977000	0.42913|0.42913	0.654000|0.654000	0.38779|0.38779	0.876000|0.876000	0.28092|0.28092	0.649000|0.649000	0.30751|0.30751	0.397000|0.397000	0.26171|0.26171	TTT|ATT		0.398	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		G	243332957	A	G	243332957	3	3	109	1	0	0	0	0	1	0	0	0	3250	101	4	4	3004	4	CEP170	1	243332957	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08	133595793	243332957	5917664	4	7448											
SERTAD2	9792	broad.mit.edu	37	chr2	64863336	64863336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaattcccaggcagagAgtccatcagttttgagtcat	12	12	8	9	0	3	2	3	1	0	1	5	3	5	2	2	1	0	2	2	1	2	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:64863336A>T	ENST00000313349.3	-	2	967	c.670T>A	c.(670-672)Tct>Act	p.S224T	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	224					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGCAGAGAGTCCATCAGT	0.527																																						uc021viq.1																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(670-672)Tct>Act		Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.							85	83	83					2																	64863336		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863336A>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.670T>A	2.37:g.64863336A>T	ENSP00000326933:p.Ser224Thr					SERTAD2_uc002sde.2_Missense_Mutation_p.S224T	p.S224T	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			0	670	-			224					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.670T>A	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	A	6.108	0.388181	0.11581	.	.	ENSG00000179833	ENST00000313349	.	.	.	6.08	4.92	0.64577	.	0.329374	0.37261	N	0.002180	T	0.43590	0.1254	L	0.42245	1.32	0.37891	D	0.93071	B	0.12630	0.006	B	0.11329	0.006	T	0.34129	-0.9841	9	0.06236	T	0.91	-0.0859	9.862	0.41120	0.8529:0.0:0.1471:0.0	.	224	Q14140	SRTD2_HUMAN	T	224	.	ENSP00000326933:S224T	S	-	1	0	SERTAD2	64716840	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.177000	0.31969	1.116000	0.41820	0.533000	0.62120	TCT		0.527	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		T	64863336	A	T	64863336	3	4	109	1	0	0	0	0	1	0	0	0	14121	304	11	5	278	5	SERTAD2	2	64863336	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08		64863336	178336037	5	7449											
TTC31	64427	broad.mit.edu	37	chr2	74718780	74718780	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagagaggagaggccccAgcagagtccaaaggtacagg	14	3	14	10	0	0	3	0	0	0	3	2	5	2	3	4	4	2	2	4	4	3	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:74718780A>T	ENST00000233623.5	+	8	864	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_Missense_Mutation_p.Q286L	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	286										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGAGGCCCCAGCAGAGTCCA	0.597																																						uc002slt.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(856-858)cAg>cTg		Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.							43	46	45					2																	74718780		1883	4112	5995	SO:0001583	missense	64427						binding	g.chr2:74718780A>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.857A>T	2.37:g.74718780A>T	ENSP00000233623:p.Gln286Leu					TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	p.Q286L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			7	880	+			286					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.857A>T	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.958|8.958	0.969847|0.969847	0.18659|0.18659	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000233623|ENST00000414247	T;T|.	0.58940|.	1.46;0.3|.	3.76|3.76	1.83|1.83	0.25207|0.25207	.|.	0.561009|.	0.14872|.	N|.	0.293477|.	T|T	0.29093|0.29093	0.0723|0.0723	N|N	0.08118|0.08118	0|0	0.43531|0.43531	D|D	0.995818|0.995818	B;B;B|.	0.13145|.	0.004;0.001;0.007|.	B;B;B|.	0.09377|.	0.002;0.002;0.004|.	T|T	0.03095|0.03095	-1.1073|-1.1073	10|5	0.33141|.	T|.	0.24|.	.|.	5.8954|5.8954	0.18937|0.18937	0.2438:0.0:0.7562:0.0|0.2438:0.0:0.7562:0.0	.|.	256;286;215|.	Q86XF2;Q49AM3;F5H175|.	.;TTC31_HUMAN;.|.	L|C	215;286;286|24	ENSP00000387213:Q286L;ENSP00000233623:Q286L|.	ENSP00000233623:Q286L|.	Q|S	+|+	2|1	0|0	TTC31|TTC31	74572288|74572288	0.199000|0.199000	0.23386|0.23386	0.673000|0.673000	0.29887|0.29887	0.122000|0.122000	0.20287|0.20287	0.156000|0.156000	0.16382|0.16382	0.561000|0.561000	0.29186|0.29186	-0.337000|-0.337000	0.08149|0.08149	CAG|AGC		0.597	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		T	74718780	A	T	74718780	3	4	109	1	0	0	0	0	1	0	0	0	16697	188	7	5	887	5	TTC31	2	74718780	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08	9855444	74718780	168480593	6	7450											
IL18RAP	8807	broad.mit.edu	37	chr2	103067331	103067331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggattttgatgctttcGtatcctatgcaaaatggagc	13	13	9	6	1	0	1	0	1	0	0	2	3	1	3	1	2	3	3	1	2	6	5	rs552650320		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:103067331G>A	ENST00000264260.2	+	11	1823	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V270I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	412	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGATGCTTTCGTATCCTATGC	0.338																																						uc002tbx.3																			0		p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1234-1236)Gta>Ata		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							93	102	99					2																	103067331		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103067331G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1234G>A	2.37:g.103067331G>A	ENSP00000264260:p.Val412Ile					IL18RAP_uc010fiz.3_Missense_Mutation_p.V270I	p.V412I	NM_003853	NP_003844	O95256	I18RA_HUMAN			10	1718	+			412			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1234G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002940	0.19121	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.01933	4.55;4.55	5.72	0.711	0.18162	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.704843	0.13115	N	0.412675	T	0.01976	0.0062	L	0.29908	0.895	0.31196	N	0.700381	P	0.38504	0.634	B	0.35312	0.2	T	0.45877	-0.9231	10	0.26408	T	0.33	.	9.9942	0.41889	0.3409:0.0:0.6591:0.0	.	412	O95256	I18RA_HUMAN	I	412;270	ENSP00000264260:V412I;ENSP00000387201:V270I	ENSP00000264260:V412I	V	+	1	0	IL18RAP	102433763	0.715000	0.27946	0.077000	0.20336	0.196000	0.23810	0.836000	0.27545	-0.156000	0.11079	-0.345000	0.07892	GTA		0.338	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		A	103067331	G	A	103067331	3	1	109	1	0	0	0	0	1	0	0	0	7648	1145	40	1	1268	1	IL18RAP	2	103067331	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	28348551	103067331	140132042	7	7451											
ZNF385B	151126	broad.mit.edu	37	chr2	180634432	180634432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggtcctcaggcctgtcGttctttatccccttttcttc	4	17	6	14	1	3	0	1	0	2	0	7	0	5	0	4	2	1	1	4	2	2	6	rs61747266	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:180634432G>A	ENST00000410066.1	-	3	654	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	17	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGGCCTGTCGTTCTTTATCC	0.463													G|||	15	0.00299521	0.0113	0	5008	,	,		17572	0		0	False		,,,				2504	0				Colon(155;204 2491 32774 51842)	uc002unn.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(49-51)aaC>aaT		Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.		G		45,4361	47.5+/-82.1	0,45,2158	73	75	74		51	-3.9	0.3	2	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous	ZNF385B	NM_152520.4		0,45,6458	AA,AG,GG		0.0,1.0213,0.346		17/472	180634432	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634432G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.51C>T	2.37:g.180634432G>A							p.N17N	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		2	655	-			17					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.51C>T	CCDS33339.1																																																																																				0.463	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		A	180634432	G	A	180634432	2	1	109	1	0	0	0	0	0	0	0	1	17874	1136	40	1		1	ZNF385B	2	180634432	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	77567101	180634432	62564941	8	7452											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	109	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	28478680	209113112	34086261	9	7453											
IRS1	3667	broad.mit.edu	37	chr2	227661259	227661259	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactggtgacatgttcatGtagtcacctgtgcaaggtaa	10	11	10	10	0	2	1	2	1	0	0	2	1	2	1	2	2	1	4	2	2	3	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:227661259G>C	ENST00000305123.5	-	1	3216	c.2196C>G	c.(2194-2196)taC>taG	p.Y732*	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	732					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACATGTTCATGTAGTCACCTG	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021vxn.1																			0		p.D731E(1)|p.D731G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2194-2196)taC>taG		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							139	145	143					2																	227661259		2203	4300	6503	SO:0001587	stop_gained	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661259G>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2196C>G	2.37:g.227661259G>C	ENSP00000304895:p.Tyr732*		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc002voh.4_Nonsense_Mutation_p.Y732*	p.Y732*	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	2196	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	732						Nonsense_Mutation	SNP	ENST00000305123.5	37	c.2196C>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	48	14.823633	0.99811	.	.	ENSG00000169047	ENST00000305123	.	.	.	4.85	3.86	0.44501	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.6622	10.1884	0.43011	0.1903:0.0:0.8097:0.0	.	.	.	.	X	732	.	ENSP00000304895:Y732X	Y	-	3	2	IRS1	227369503	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.007000	0.49536	1.090000	0.41315	0.561000	0.74099	TAC		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		C	227661259	G	C	227661259	4	2	109	1	0	0	0	0	0	1	0	0	7840	1372	48	5	1536	5	IRS1	2	227661259	Nonsense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	18548147	227661259	15538114	10	7454											
RNF123	63891	broad.mit.edu	37	chr3	49735348	49735348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaactttggcaccatcCgctctaccacatgcgtgtac	10	9	7	15	2	1	0	0	0	1	0	2	0	2	0	3	1	5	4	3	1	3	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:49735348C>T	ENST00000327697.6	+	6	517	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGCACCATCCGCTCTACCAC	0.557																																						uc003cxh.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(373-375)Cgc>Tgc		Homo sapiens ring finger protein 123 (RNF123), mRNA.							322	283	296					3																	49735348		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735348C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.373C>T	3.37:g.49735348C>T	ENSP00000328287:p.Arg125Cys					RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	p.R125C	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	5	459	+			125			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.373C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264286	0.80358	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64438	-0.1	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	T	0.82185	0.4982	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.85421	0.1143	10	0.87932	D	0	-26.426	9.8638	0.41131	0.1466:0.7802:0.0:0.0732	.	125	Q5XPI4	RN123_HUMAN	C	125	ENSP00000328287:R125C	ENSP00000328287:R125C	R	+	1	0	RNF123	49710352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.445000	0.44899	1.536000	0.49237	0.655000	0.94253	CGC		0.557	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		T	49735348	C	T	49735348	3	4	109	1	0	0	0	0	1	0	0	0	13433	652	23	2	391	2	RNF123	3	49735348	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		49735348	148287082	11	7455											
EPHA3	2042	broad.mit.edu	37	chr3	89462354	89462354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagaccctacccaagctgTtcatgagtttgccaaggaat	12	10	9	10	0	1	3	1	2	0	1	1	4	1	4	3	1	3	3	3	1	5	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:89462354T>C	ENST00000336596.2	+	10	2051	c.1826T>C	c.(1825-1827)gTt>gCt	p.V609A	EPHA3_ENST00000494014.1_Missense_Mutation_p.V609A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	609					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCAAGCTGTTCATGAGTTT	0.423										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1825-1827)gTt>gCt		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							176	156	163					3																	89462354		2203	4299	6502	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89462354T>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1826T>C	3.37:g.89462354T>C	ENSP00000337451:p.Val609Ala	TSP Lung(6;0.00050)				EPHA3_uc021xbf.1_Missense_Mutation_p.V609A	p.V609A	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	2051	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	609					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1826T>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	31	5.065432	0.93898	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.19938	2.11;2.11	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.83692	2.655	0.80722	D	1	D	0.60160	0.987	D	0.67900	0.954	T	0.52449	-0.8574	9	.	.	.	.	16.4116	0.83717	0.0:0.0:0.0:1.0	.	609	P29320	EPHA3_HUMAN	A	609	ENSP00000337451:V609A;ENSP00000419190:V609A	.	V	+	2	0	EPHA3	89545044	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.967000	0.87967	2.276000	0.75962	0.528000	0.53228	GTT		0.423	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89462354	T	C	89462354	3	2	109	1	0	0	0	0	1	0	0	0	5168	1725	60	4	1890	4	EPHA3	3	89462354	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	39727006	89462354	108560076	12	7456											
FRAS1	80144	broad.mit.edu	37	chr4	79429983	79429983	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggtctgtgtcaccccCtgcgaccctcatttccccag	5	10	7	19	1	3	0	2	0	1	0	4	1	4	0	6	1	1	0	6	1	0	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:79429983C>A	ENST00000264895.6	+	63	10043	c.9603C>A	c.(9601-9603)ccC>ccA	p.P3201P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3197					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTCACCCCCTGCGACCCTC	0.567																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9601-9603)ccC>ccA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							49	53	52					4																	79429983		2024	4203	6227	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79429983C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9603C>A	4.37:g.79429983C>A						FRAS1_uc003hlc.1_Silent_p.P203P	p.P3201P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			62	10043	+			3196					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9603C>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	8.114	0.779517	0.16120	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.63	2.55	0.30701	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47433	-0.9118	4	.	.	.	.	6.2421	0.20797	0.1289:0.5832:0.0:0.2879	.	.	.	.	M	1430	.	.	L	+	1	2	FRAS1	79649007	0.333000	0.24731	1.000000	0.80357	0.794000	0.44872	-0.301000	0.08232	0.744000	0.32741	0.591000	0.81541	CTG		0.567	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79429983	C	A	79429983	2	1	109	1	0	0	0	0	0	0	0	1	6042	668	24	5		5	FRAS1	4	79429983	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		79429983	111724293	13	7457											
COPS4	51138	broad.mit.edu	37	chr4	83970319	83970319	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttaaacaagTggtaaatgagaatgtcagtc	12	19	7	3	0	1	1	1	1	0	1	2	2	1	1	0	1	1	1	0	1	6	8			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:83970319T>G	ENST00000264389.2	+	3	290	c.155T>G	c.(154-156)aTg>aGg	p.M52R	COPS4_ENST00000509093.1_Splice_Site_p.M52R|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000503682.1_Splice_Site_p.M52R|COPS4_ENST00000511653.1_Splice_Site_p.M52R	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	52					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTTAAACAAGTGGTAAATGAG	0.318																																						uc003hoa.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.e3-1		Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.							68	66	67					4																	83970319		2203	4300	6503	SO:0001630	splice_region_variant	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83970319T>G	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.155-1T>G	4.37:g.83970319T>G						COPS4_uc010ijx.3_Splice_Site_p.M52_splice	p.M52_splice	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			3	294	+		Hepatocellular(203;0.114)	52					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.155_splice	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412105	0.62511	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	T;T;T;T	0.45668	0.91;0.91;0.9;0.89	5.59	5.59	0.84812	.	0.039861	0.85682	D	0.000000	T	0.36303	0.0962	L	0.49778	1.585	0.80722	D	1	B;B;P;B	0.36535	0.059;0.082;0.557;0.142	B;B;B;B	0.29942	0.055;0.055;0.058;0.109	T	0.15578	-1.0432	9	.	.	.	.	15.8158	0.78597	0.0:0.0:0.0:1.0	.	52;52;52;52	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	R	52	ENSP00000425976:M52R;ENSP00000264389:M52R;ENSP00000424791:M52R;ENSP00000424655:M52R	.	M	+	2	0	COPS4	84189343	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.785000	0.85724	2.133000	0.65898	0.477000	0.44152	ATG		0.318	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1		Missense_Mutation	G	83970319	T	G	83970319	5	3	109	1	0	0	0	0	0	0	1	0	3735	1710	59	5	165	5	COPS4	4	83970319	Splice_Site	SNP	T	TCGA-06-6701-01A-11D-1845-08	4540336	83970319	107183957	14	7458											
TAS2R1	50834	broad.mit.edu	37	chr5	9629276	9629276	+	Frame_Shift_Del	DEL	T	T	-																															acttactgtggaggaggaacTtttttgcattttgtttcaat																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:9629276delT	ENST00000382492.2	-	1	1187	c.869delA	c.(868-870)aagfs	p.K290fs	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	290					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGGAGGAACTTTTTTGCATT	0.393																																						uc003jem.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(868-870)aagfs		Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.							95	97	96					5																	9629276		2203	4300	6503	SO:0001589	frameshift_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629276delT	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.869delA	5.37:g.9629276delT	ENSP00000371932:p.Lys290fs						p.K290fs	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			0	1188	-			290					Q646G8	Frame_Shift_Del	DEL	ENST00000382492.2	37	c.869delA	CCDS3876.1																																																																																				0.393	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			-	9629276	T	-	9629276	7	5	109	1	0	1	0	1	0	0	0	0	15562	1609	56	0	34	0	TAS2R1	5	9629276	Frame_Shift_Del	DEL	T	TCGA-06-6701-01A-11D-1845-08		9629276	171285984	15	7459											
RGNEF	64283	broad.mit.edu	37	chr5	73128199	73128199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaaaaaaatccaagccgcCctcgacattgcttgctgcag	12	8	7	14	2	0	0	0	0	0	0	2	1	1	0	4	0	4	3	4	0	5	3	rs372079481		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73128199C>T	ENST00000426542.2	+	9	1081	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P354L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P354L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P354L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P41L|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.P354L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P354L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	354					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCCAAGCCGCCCTCGACATTG	0.448																																						uc010izf.3																			0											c.(1060-1062)cCc>cTc		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							87	77	80					5																	73128199		1889	4110	5999	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73128199C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1061C>T	5.37:g.73128199C>T	ENSP00000412175:p.Pro354Leu					RGNEF_uc011csq.2_Missense_Mutation_p.P354L|RGNEF_uc003kcy.1_Missense_Mutation_p.P354L|RGNEF_uc021yam.1_Missense_Mutation_p.P354L|RGNEF_uc011csr.2_Missense_Mutation_p.P41L	p.P354L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	9	1237	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	354					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1061C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	4.662	0.123147	0.08931	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.11604	3.0;3.0;3.0;2.76;3.0;3.0;2.8	5.48	2.63	0.31362	.	.	.	.	.	T	0.10895	0.0266	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B	0.20671	0.003;0.003;0.003;0.047;0.003	B;B;B;B;B	0.18263	0.005;0.005;0.005;0.021;0.011	T	0.22765	-1.0207	9	0.52906	T	0.07	.	8.8112	0.34967	0.0:0.7339:0.1236:0.1425	.	41;354;354;354;354	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	L	354;354;354;354;354;354;41	ENSP00000296794:P354L;ENSP00000441913:P354L;ENSP00000441436:P354L;ENSP00000287898:P354L;ENSP00000411459:P354L;ENSP00000412175:P354L;ENSP00000296799:P41L	ENSP00000287898:P354L	P	+	2	0	RP11-428C6.1	73163955	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.224000	0.32539	0.318000	0.23185	0.650000	0.86243	CCC		0.448	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73128199	C	T	73128199	3	4	109	1	0	0	0	0	1	0	0	0	13283	623	22	3	1095	3	RGNEF	5	73128199	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	63498923	73128199	107787061	16	7460											
ENC1	8507	broad.mit.edu	37	chr5	73931841	73931841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtgcactggtgtgcaTcagacagcagcagcatgccc	8	8	13	12	0	1	1	1	0	0	1	1	1	1	1	1	2	6	6	1	2	0	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73931841T>C	ENST00000302351.4	-	2	1600	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ENC1_ENST00000537006.1_Missense_Mutation_p.D157G|ENC1_ENST00000510316.1_Missense_Mutation_p.D84G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	157					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTGGTGTGCATCAGACAGCAG	0.517																																						uc003kdc.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(469-471)gAt>gGt		Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.							99	92	95					5																	73931841		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931841T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.470A>G	5.37:g.73931841T>C	ENSP00000306356:p.Asp157Gly					ENC1_uc011css.2_Missense_Mutation_p.D84G|ENC1_uc021yao.1_Missense_Mutation_p.D157G	p.D157G	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	1	1601	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	157					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.470A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291428	0.59976	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.70749	-0.51;-0.51;-0.51	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88075	0.2803	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	157	O14682	ENC1_HUMAN	G	157;84;157	ENSP00000306356:D157G;ENSP00000423804:D84G;ENSP00000446289:D157G	ENSP00000306356:D157G	D	-	2	0	ENC1	73967597	1.000000	0.71417	0.831000	0.32960	0.569000	0.35902	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GAT		0.517	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		C	73931841	T	C	73931841	3	2	109	1	0	0	0	0	1	0	0	0	5113	1435	50	4	1303	4	ENC1	5	73931841	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	803642	73931841	106983419	17	7461											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769114	140769114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttagtggacgaccgcaacGacaatgcgccacgggtgctg	9	7	14	11	5	0	0	0	0	0	0	0	3	0	1	2	2	3	3	2	2	3	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:140769114G>A	ENST00000519479.1	+	1	1663	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCGCAACGACAATGCGCC	0.672																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1663-1665)Gac>Aac		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							37	46	43					5																	140769114		2140	4253	6393	SO:0001583	missense	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769114G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1663G>A	5.37:g.140769114G>A	ENSP00000428288:p.Asp555Asn					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.D555N	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1663	+			559			Cadherin 5.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1663G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.187588	0.78789	.	.	ENSG00000253953	ENST00000519479	T	0.64085	-0.08	5.05	5.05	0.67936	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.86058	0.5842	H	0.96142	3.775	0.42261	D	0.992019	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.90870	0.4745	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	555;555	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	555	ENSP00000428288:D555N	ENSP00000428288:D555N	D	+	1	0	PCDHGB4	140749298	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	7.524000	0.81866	2.503000	0.84419	0.563000	0.77884	GAC		0.672	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		A	140769114	G	A	140769114	3	1	109	1	0	0	0	0	1	0	0	0	11565	1058	37	2	1665	2	PCDHGB4	5	140769114	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	66837273	140769114	40146146	18	7462											
ELOVL2	54898	broad.mit.edu	37	chr6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgtttttttccgcaaaaCgaagaaaattgtgtccagga	13	12	8	8	3	0	1	0	0	0	1	3	3	2	2	2	1	1	2	2	1	5	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:10995345C>T	ENST00000354666.3	-	5	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	134					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393																																						uc003mzp.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(400-402)Gtt>Att		Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.							119	114	115					6																	10995345		2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10995345C>T	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.400G>A	6.37:g.10995345C>T	ENSP00000346693:p.Val134Ile						p.V134I	NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		4	561	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	134					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.400G>A	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818763	0.16607	.	.	ENSG00000197977	ENST00000354666	T	0.27402	1.67	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.07324	0.0185	N	0.04994	-0.135	0.53005	D	0.999967	B	0.33777	0.425	B	0.32583	0.148	T	0.11542	-1.0583	10	0.06099	T	0.92	-1.6025	19.9598	0.97242	0.0:1.0:0.0:0.0	.	134	Q9NXB9	ELOV2_HUMAN	I	134	ENSP00000346693:V134I	ENSP00000346693:V134I	V	-	1	0	ELOVL2	11103331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.648000	0.61425	2.716000	0.92895	0.655000	0.94253	GTT		0.393	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			T	10995345	C	T	10995345	3	4	109	1	0	0	0	0	1	0	0	0	5074	536	19	1	506	1	ELOVL2	6	10995345	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		10995345	160119722	19	7463											
ITPR3	3710	broad.mit.edu	37	chr6	33654271	33654271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccccctgtgcaagtaccGcatggatctggtgctgcagc	7	8	12	14	1	1	0	0	0	1	0	1	1	1	1	3	2	6	5	3	2	2	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:33654271G>A	ENST00000374316.5	+	44	7014	c.5954G>A	c.(5953-5955)cGc>cAc	p.R1985H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1985H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1985					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCAAGTACCGCATGGATCTG	0.547																																						uc021ywr.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5953-5955)cGc>cAc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.							149	110	124					6																	33654271		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33654271G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5954G>A	6.37:g.33654271G>A	ENSP00000363435:p.Arg1985His						p.R1985H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			42	6178	+			1985					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5954G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310573	0.81358	.	.	ENSG00000096433	ENST00000374316	D	0.92647	-3.08	4.62	4.62	0.57501	.	0.059063	0.64402	D	0.000002	D	0.92731	0.7689	L	0.54965	1.715	0.58432	D	0.999991	D;P	0.62365	0.991;0.95	P;B	0.58970	0.849;0.439	D	0.92066	0.5660	10	0.41790	T	0.15	-17.08	17.8484	0.88737	0.0:0.0:1.0:0.0	.	1985;1655	Q14573;Q59ES2	ITPR3_HUMAN;.	H	1985	ENSP00000363435:R1985H	ENSP00000363435:R1985H	R	+	2	0	ITPR3	33762249	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.957000	0.87870	2.276000	0.75962	0.462000	0.41574	CGC		0.547	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33654271	G	A	33654271	3	1	109	1	0	0	0	0	1	0	0	0	7922	1087	38	1	6124	1	ITPR3	6	33654271	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	22658926	33654271	137460796	20	7464											
SNAI2	6591	broad.mit.edu	37	chr8	49832679	49832679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaagttgaataggtcttaTtgcataaattgcactgaaac	17	12	7	5	0	1	2	0	2	1	0	1	2	1	2	0	1	3	3	0	1	8	6	rs200799419		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:49832679T>C	ENST00000396822.1	-	3	758	c.401A>G	c.(400-402)aAt>aGt	p.N134S	SNAI2_ENST00000020945.1_Missense_Mutation_p.N134S			O43623	SNAI2_HUMAN	snail family zinc finger 2	134					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGTCTTATTGCATAAATT	0.438													T|||	1	0.000199681	0	0	5008	,	,		21426	0.001		0	False		,,,				2504	0					uc003xqp.3																			0		p.N134D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(400-402)aAt>aGt		Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.							128	127	127					8																	49832679		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832679T>C	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.401A>G	8.37:g.49832679T>C	ENSP00000380034:p.Asn134Ser						p.N134S	NM_003068	NP_003059	O43623	SNAI2_HUMAN			1	576	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	134					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.401A>G	CCDS6146.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	3.704	-0.060919	0.07317	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.29917	1.55;1.55	5.19	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120387	0.85682	N	0.000000	T	0.15739	0.0379	N	0.12527	0.23	0.39247	D	0.963969	B	0.02656	0.0	B	0.09377	0.004	T	0.07009	-1.0795	10	0.38643	T	0.18	-8.0304	8.004	0.30315	0.0:0.2278:0.0:0.7722	.	134	O43623	SNAI2_HUMAN	S	134	ENSP00000020945:N134S;ENSP00000380034:N134S	ENSP00000020945:N134S	N	-	2	0	SNAI2	49995232	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.232000	0.17891	0.296000	0.22592	0.459000	0.35465	AAT		0.438	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		C	49832679	T	C	49832679	3	2	109	1	0	0	0	0	1	0	0	0	14827	1493	52	4	413	4	SNAI2	8	49832679	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08		49832679	96531343	21	7465											
ZFHX4	79776	broad.mit.edu	37	chr8	77617855	77617855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagcatttctcctttatCatccagtgtgctaaaattta	12	15	4	10	0	2	0	1	0	1	0	4	0	3	0	3	0	2	2	3	0	5	6			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617855C>T	ENST00000521891.2	+	2	1980	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S511L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S511L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S511L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCCTTTATCATCCAGTGTG	0.413										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1531-1533)tCa>tTa		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							39	39	39					8																	77617855		1925	4137	6062	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617855C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1532C>T	8.37:g.77617855C>T	ENSP00000430497:p.Ser511Leu	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	p.S511L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		1	1919	+			511					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1532C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680949	0.29872	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.83;0.79;0.79	5.65	5.65	0.86999	.	0.000000	0.36628	U	0.002492	T	0.36771	0.0979	N	0.20986	0.625	0.80722	D	1	B;B;B;B	0.28082	0.126;0.11;0.2;0.007	B;B;B;B	0.24155	0.023;0.028;0.051;0.007	T	0.08576	-1.0715	10	0.23302	T	0.38	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	511;511;511;511	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	511	ENSP00000430497:S511L;ENSP00000399605:S511L;ENSP00000050961:S511L;ENSP00000430848:S511L	ENSP00000050961:S511L	S	+	2	0	ZFHX4	77780410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCA		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77617855	C	T	77617855	3	4	109	1	0	0	0	0	1	0	0	0	17632	838	29	3	1534	3	ZFHX4	8	77617855	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	27785176	77617855	68746167	22	7466			1	26		2	2	43	C		6.783428e-05
ZFHX4	79776	broad.mit.edu	37	chr8	77617897	77617897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaaagggtacctcgtcctCctcggcgactgtttctgatg	7	12	11	11	3	1	2	0	2	1	0	5	3	3	2	3	2	1	2	3	2	3	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617897C>T	ENST00000521891.2	+	2	2022	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S525F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S525F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S525F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	525	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCTCGTCCTCCTCGGCGACT	0.433										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1573-1575)tCc>tTc		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							40	40	40					8																	77617897		1959	4148	6107	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617897C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1574C>T	8.37:g.77617897C>T	ENSP00000430497:p.Ser525Phe	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	p.S525F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		1	1961	+			525			Poly-Ser.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1574C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214733	0.39102	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.67;0.67	5.65	5.65	0.86999	.	0.000000	0.44285	U	0.000476	T	0.63438	0.2511	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.71674	0.989;0.998;0.993;0.996	P;D;P;P	0.64877	0.768;0.93;0.884;0.875	T	0.63274	-0.6674	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	525;525;525;525	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	F	525	ENSP00000430497:S525F;ENSP00000399605:S525F;ENSP00000050961:S525F;ENSP00000430848:S525F	ENSP00000050961:S525F	S	+	2	0	ZFHX4	77780452	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.424000	0.66464	2.941000	0.99782	0.655000	0.94253	TCC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77617897	C	T	77617897	3	4	109	1	0	0	0	0	1	0	0	0	17632	855	30	3	1576	3	ZFHX4	8	77617897	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	42	77617897	68746125	23	7467			1	26		2	2	43	C		6.783428e-05
NPDC1	56654	broad.mit.edu	37	chr9	139934426	139934426	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccctgaggcactcaccggGgccaggcccgggcactcgta	7	4	13	17	3	1	1	1	1	0	0	2	1	1	1	4	5	0	3	4	5	1	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:139934426G>C	ENST00000371601.4	-	8	1095	c.882C>G	c.(880-882)gcC>gcG	p.A294A	NPDC1_ENST00000371600.3_Silent_p.A372A|RP11-229P13.20_ENST00000457302.2_lincRNA|NPDC1_ENST00000488145.1_5'Flank	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	294						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CACTCACCGGGGCCAGGCCCG	0.657																																						uc004cks.2																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(1114-1116)gcC>gcG		Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.							60	61	61					9																	139934426		2202	4298	6500	SO:0001819	synonymous_variant	56654					integral to membrane		g.chr9:139934426G>C	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.882C>G	9.37:g.139934426G>C						NPDC1_uc004ckt.2_Silent_p.A294A	p.A372A	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	6	1789	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	294					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Silent	SNP	ENST00000371601.4	37	c.1116C>G	CCDS7024.1																																																																																				0.657	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		C	139934426	G	C	139934426	2	2	109	1	0	0	0	0	0	0	0	1	10573	1219	43	5		5	NPDC1	9	139934426	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08		139934426	1279005	24	7468											
OGDHL	55753	broad.mit.edu	37	chr10	50955213	50955213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgacgcggttgatcctCtcatggtacatgcccaggtg	6	12	13	10	2	1	2	1	2	1	0	3	2	2	2	2	4	2	2	2	4	1	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:50955213C>G	ENST00000374103.4	-	9	1114	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D	OGDHL_ENST00000432695.1_Missense_Mutation_p.E134D|OGDHL_ENST00000419399.1_Missense_Mutation_p.E286D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	343					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.E343E(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGATCCTCTCATGGTACA	0.587																																						uc009xog.3																			1	Substitution - coding silent(1)	p.E343E(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1108-1110)gaG>gaC		Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							271	225	240					10																	50955213		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955213C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1029G>C	10.37:g.50955213C>G	ENSP00000363216:p.Glu343Asp					OGDHL_uc001jie.3_Missense_Mutation_p.E343D|OGDHL_uc010qgt.2_Missense_Mutation_p.E286D|OGDHL_uc010qgu.2_Missense_Mutation_p.E134D|OGDHL_uc009xoh.2_Missense_Mutation_p.E134D	p.E370D	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN			7	1144	-			343					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1110G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	5.063	0.197360	0.09599	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95853	-3.83;-3.83;-3.83	5.79	4.89	0.63831	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	N	0.11154	0.105	0.50467	D	0.999878	B;B;B	0.14438	0.008;0.004;0.01	B;B;B	0.26693	0.017;0.012;0.072	T	0.80747	-0.1244	10	0.02654	T	1	.	11.1457	0.48430	0.0:0.8591:0.0:0.1409	.	286;134;343	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	D	343;286;134	ENSP00000363216:E343D;ENSP00000401356:E286D;ENSP00000390240:E134D	ENSP00000363216:E343D	E	-	3	2	OGDHL	50625219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.232000	0.32636	1.457000	0.47850	-0.137000	0.14449	GAG		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		G	50955213	C	G	50955213	3	3	109	1	0	0	0	0	1	0	0	0	10840	912	32	5	2063	5	OGDHL	10	50955213	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		50955213	84579534	25	7469											
ENTPD1	953	broad.mit.edu	37	chr10	97607463	97607463	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactccagggggattttggGgtaagtttgtgaaatgatga	10	12	14	5	0	0	3	0	3	0	0	1	4	1	4	2	4	0	2	2	4	2	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:97607463G>A	ENST00000371205.4	+	7	1357	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	ENTPD1_ENST00000371207.3_Splice_Site_p.G370G|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Splice_Site_p.G365G|ENTPD1_ENST00000539125.1_Splice_Site_p.G220G|ENTPD1_ENST00000371203.5_Splice_Site_p.G220G|ENTPD1_ENST00000543964.1_Splice_Site_p.G250G			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	358					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGATTTTGGGGTAAGTTTGT	0.408																																						uc010qoj.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.e7+1		Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.							77	78	78					10																	97607463		2203	4300	6503	SO:0001630	splice_region_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607463G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1074+1G>A	10.37:g.97607463G>A						ENTPD1_uc001kli.4_Splice_Site_p.G365_splice|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Splice_Site_p.G250_splice|ENTPD1_uc010qol.2_Splice_Site_p.G250_splice|ENTPD1_uc001klh.4_Splice_Site_p.G358_splice|ENTPD1_uc010qom.2_Splice_Site_p.G317_splice|ENTPD1_uc010qon.2_Splice_Site_p.G220_splice|ENTPD1_uc009xva.3_Splice_Site_p.G220_splice	p.G370_splice	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	7	1173	+		Colorectal(252;0.0821)	358					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.1110_splice	CCDS7444.1																																																																																				0.408	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	Silent	A	97607463	G	A	97607463	5	1	109	1	0	0	0	0	0	0	1	0	5138	1246	43	3	1197	3	ENTPD1	10	97607463	Splice_Site	SNP	G	TCGA-06-6701-01A-11D-1845-08	46652250	97607463	37927284	26	7470											
ACADSB	36	broad.mit.edu	37	chr10	124813243	124813243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggagcttccaacatccagTtgaacaccattgcaaagcat	15	8	7	11	0	0	1	0	1	0	0	2	2	2	2	3	1	5	4	3	1	4	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:124813243T>C	ENST00000358776.4	+	11	1275	c.1261T>C	c.(1261-1263)Ttg>Ctg	p.L421L	ACADSB_ENST00000368869.4_Silent_p.L319L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	421					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	CAACATCCAGTTGAACACCAT	0.433																																						uc001lhb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1261-1263)Ttg>Ctg		Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	L-Isoleucine(DB00167)						159	141	147					10																	124813243		2203	4300	6503	SO:0001819	synonymous_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124813243T>C	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1261T>C	10.37:g.124813243T>C						ACADSB_uc010qub.2_Silent_p.L319L	p.L421L	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	10	1378	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	421					B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	c.1261T>C	CCDS7634.1																																																																																				0.433	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		C	124813243	T	C	124813243	2	2	109	1	0	0	0	0	0	0	0	1	115	1722	60	4		4	ACADSB	10	124813243	Silent	SNP	T	TCGA-06-6701-01A-11D-1845-08	27205780	124813243	10721504	27	7471											
MMP26	56547	broad.mit.edu	37	chr11	5012728	5012728	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcagcttcagacactggTaaatgccttgtttggtggga	8	13	13	7	0	2	1	2	0	0	1	2	2	2	2	1	4	2	3	1	4	2	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:5012728T>C	ENST00000380390.1	+	5	811		c.e5+2		MMP26_ENST00000300762.1_Splice_Site			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAGACACTGGTAAATGCCTTG	0.483																																						uc001lzv.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.e4+2		Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.							109	106	107					11																	5012728		2201	4298	6499	SO:0001630	splice_region_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012728T>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.595+2T>C	11.37:g.5012728T>C							p.G199_splice	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	613	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	199					Q3MJ78|Q9GZS2|Q9NR87	Splice_Site	SNP	ENST00000380390.1	37	c.595_splice	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075326	0.36662	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9902	0.36019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MMP26	4969304	0.952000	0.32445	0.774000	0.31636	0.149000	0.21700	0.553000	0.23391	1.365000	0.46057	0.533000	0.62120	.		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	Intron	C	5012728	T	C	5012728	5	2	109	1	0	0	0	0	0	0	1	0	9663	1652	57	4	611	4	MMP26	11	5012728	Splice_Site	SNP	T	TCGA-06-6701-01A-11D-1845-08		5012728	129993788	28	7472											
GTF2H1	2965	broad.mit.edu	37	chr11	18369162	18369162	+	Frame_Shift_Del	DEL	G	G	-																															gcatttcctctgtgccatctGcttccaattctaaatccata																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:18369162delG	ENST00000265963.4	+	8	1025	c.865delG	c.(865-867)gctfs	p.A289fs	GTF2H1_ENST00000534641.1_Frame_Shift_Del_p.A173fs|GTF2H1_ENST00000453096.2_Frame_Shift_Del_p.A289fs|GTF2H1_ENST00000524753.4_Frame_Shift_Del_p.A85fs|GTF2H1_ENST00000530496.2_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	289					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGTGCCATCTGCTTCCAATTC	0.373								Nucleotide excision repair (NER)																														uc001moi.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(865-867)gctfs	Nucleotide excision repair (NER)	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.							52	50	51					11																	18369162		2199	4293	6492	SO:0001589	frameshift_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369162delG		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.865delG	11.37:g.18369162delG	ENSP00000265963:p.Ala289fs					GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs	p.A289fs	NM_001142307	NP_005307	P32780	TF2H1_HUMAN			8	1559	+			289					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Frame_Shift_Del	DEL	ENST00000265963.4	37	c.865delG	CCDS7838.1																																																																																				0.373	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		-	18369162	G	-	18369162	7	5	109	1	0	1	0	1	0	0	0	0	6860	1319	46	0	891	0	GTF2H1	11	18369162	Frame_Shift_Del	DEL	G	TCGA-06-6701-01A-11D-1845-08	13356434	18369162	116637354	29	7473											
DDN	23109	broad.mit.edu	37	chr12	49391285	49391285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcgtatcactacgcaCgtggcgtcaatgacaaagac	12	8	11	10	4	2	2	2	1	0	1	3	3	2	3	0	2	1	2	0	2	4	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:49391285C>T	ENST00000421952.2	-	2	1395	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	458	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642																																						uc001rsv.1																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1372-1374)acG>acA		Homo sapiens dendrin (DDN), mRNA.							66	65	66					12																	49391285		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391285C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1374G>A	12.37:g.49391285C>T							p.T458T	NM_015086	NP_055901	O94850	DEND_HUMAN			1	1392	-			458			Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1374G>A	CCDS31791.2																																																																																				0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			T	49391285	C	T	49391285	2	4	109	1	0	0	0	0	0	0	0	1	4333	523	19	1		1	DDN	12	49391285	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		49391285	84460610	30	7474											
TSPAN19	144448	broad.mit.edu	37	chr12	85411285	85411285	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaaaccattttcttaaagTtgactttgtgcaagaacatg	15	13	6	7	0	1	2	0	1	1	1	1	2	1	2	1	0	3	2	1	0	6	5	rs376490751		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:85411285T>A	ENST00000532498.2	-	7	624	c.544A>T	c.(544-546)Act>Tct	p.T182S	TSPAN19_ENST00000547403.2_5'Flank	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	182						integral component of membrane (GO:0016021)				ovary(1)	1						TTTCTTAAAGTTGACTTTGTG	0.343																																						uc009zsj.3																			0				ovary(1)	1						c.(544-546)Act>Tct		Homo sapiens tetraspanin 19 (TSPAN19), mRNA.							93	87	89					12																	85411285		1842	4099	5941	SO:0001583	missense	144448					integral to membrane		g.chr12:85411285T>A		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.544A>T	12.37:g.85411285T>A	ENSP00000433816:p.Thr182Ser						p.T182S	NM_001100917	NP_001094387	P0C672	TSN19_HUMAN			6	645	-			182						Missense_Mutation	SNP	ENST00000532498.2	37	c.544A>T	CCDS44949.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.750|0.750	-0.773163|-0.773163	0.02951|0.02951	.|.	.|.	ENSG00000231738|ENSG00000231738	ENST00000525452|ENST00000532498	.|T	.|0.78707	.|-1.2	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Tetraspanin, EC2 domain (1);	.|.	.|.	.|.	.|.	T|T	0.74520|0.74520	0.3727|0.3727	L|L	0.27053|0.27053	0.805|0.805	0.25640|0.25640	N|N	0.98621|0.98621	.|P	.|0.51240	.|0.943	.|P	.|0.59115	.|0.852	T|T	0.61594|0.61594	-0.7031|-0.7031	5|9	.|0.06757	.|T	.|0.87	.|.	11.3129|11.3129	0.49375|0.49375	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|182	.|P0C672	.|TSN19_HUMAN	H|S	30|182	.|ENSP00000433816:T182S	.|ENSP00000433816:T182S	Q|T	-|-	3|1	2|0	TSPAN19|TSPAN19	83935416|83935416	0.998000|0.998000	0.40836|0.40836	0.846000|0.846000	0.33378|0.33378	0.002000|0.002000	0.02628|0.02628	2.149000|2.149000	0.42244|0.42244	2.105000|2.105000	0.64084|0.64084	0.524000|0.524000	0.50904|0.50904	CAA|ACT		0.343	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		A	85411285	T	A	85411285	3	1	109	1	0	0	0	0	1	0	0	0	16640	1725	60	5	214	5	TSPAN19	12	85411285	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	36020000	85411285	48440610	31	7475											
GPR109B	8843	broad.mit.edu	37	chr12	123200903	123200903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggggatggaccacccGgaaatacctgtctaccgcca	9	7	13	12	2	1	0	0	0	1	0	1	3	1	3	5	5	2	0	5	5	3	2	rs371876470		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:123200903G>A	ENST00000528880.2	-	1	536	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	128					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TGGACCACCCGGAAATACCTG	0.562																																						uc001ucy.4																			0		p.R128L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(382-384)Cgg>Tgg		Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)	T	TRP/ARG	0,4406		0,0,2203	92	91	91		382	-5	1	12		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCAR3	NM_006018.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	128/388	123200903	2,13004	2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200903G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.382C>T	12.37:g.123200903G>A	ENSP00000436714:p.Arg128Trp					HCAR1_uc001ucw.1_Intron	p.R128W	NM_006018	NP_006009	P49019	HCAR3_HUMAN			0	537	-			128					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.382C>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812802	0.50527	0.0	2.33E-4	ENSG00000255398	ENST00000528880	T	0.37235	1.21	3.27	-5.0	0.03001	.	.	.	.	.	T	0.50650	0.1628	M	0.71581	2.175	0.20074	N	0.999936	D	0.89917	1.0	D	0.81914	0.995	T	0.50189	-0.8857	9	0.87932	D	0	.	7.4384	0.27169	0.0967:0.0:0.2888:0.6145	.	128	E9PI97	.	W	128	ENSP00000436714:R128W	ENSP00000436714:R128W	R	-	1	2	HCAR3	121766856	0.001000	0.12720	0.971000	0.41717	0.067000	0.16453	-0.138000	0.10374	-0.781000	0.04548	-1.123000	0.02005	CGG		0.562	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		A	123200903	G	A	123200903	3	1	109	1	0	0	0	0	1	0	0	0	6626	1115	39	2	785	2	GPR109B	12	123200903	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	37789618	123200903	10650992	32	7476											
TRPC4	7223	broad.mit.edu	37	chr13	38320377	38320377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaaggccttgtagatGttgagtctggagcgtgagtg	7	11	16	7	1	1	3	0	2	1	1	1	4	1	4	2	3	1	2	2	3	2	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr13:38320377G>A	ENST00000379705.3	-	3	1451	c.594C>T	c.(592-594)aaC>aaT	p.N198N	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000358477.2_Silent_p.N198N|TRPC4_ENST00000355779.2_Silent_p.N198N|TRPC4_ENST00000426868.2_Silent_p.N198N|TRPC4_ENST00000447043.1_Silent_p.N198N|TRPC4_ENST00000379673.2_Silent_p.N198N|TRPC4_ENST00000379681.3_Silent_p.N198N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	198					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTGTAGATGTTGAGTCTGG	0.532																																						uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(592-594)aaC>aaT		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							99	86	90					13																	38320377		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320377G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.594C>T	13.37:g.38320377G>A						TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.N198N|TRPC4_uc001uws.3_Silent_p.N198N|TRPC4_uc010tey.2_Silent_p.N198N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.N198N	p.N198N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	829	-			198					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.594C>T	CCDS9365.1																																																																																				0.532	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		A	38320377	G	A	38320377	2	1	109	1	0	0	0	0	0	0	0	1	16577	1368	48	3		3	TRPC4	13	38320377	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08		38320377	76849501	33	7477											
CDH24	64403	broad.mit.edu	37	chr14	23524268	23524268	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagctggggtgctcacCgacattggacatctcgggca	8	9	13	11	2	3	1	2	0	1	1	4	3	3	2	1	4	2	3	1	4	0	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr14:23524268C>T	ENST00000267383.5	-	2	588	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	CDH24_ENST00000554034.1_Splice_Site_p.G166R|CDH24_ENST00000487137.2_Splice_Site_p.G166R|CDH24_ENST00000397359.3_Splice_Site_p.G166R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.e3+1		Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.							80	85	84					14																	23524268		2203	4300	6503	SO:0001630	splice_region_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524268C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.496+1G>A	14.37:g.23524268C>T			OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.3_Splice_Site_p.G166_splice|CDH24_uc001win.3_Splice_Site_p.G166_splice	p.G166_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	756	-	all_cancers(95;3.3e-05)		166			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.496_splice	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975854	0.53720	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.92170	0.5743	9	.	.	.	.	15.0822	0.72122	0.0:1.0:0.0:0.0	.	166;166;166	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	R	166	ENSP00000380517:G166R;ENSP00000434821:G166R;ENSP00000452493:G166R;ENSP00000267383:G166R	.	G	-	1	0	CDH24	22594108	1.000000	0.71417	0.925000	0.36789	0.364000	0.29643	5.873000	0.69644	2.168000	0.68352	0.561000	0.74099	GGG		0.552	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	Missense_Mutation	T	23524268	C	T	23524268	5	4	109	1	0	0	0	0	0	0	1	0	3109	666	23	2	2007	2	CDH24	14	23524268	Splice_Site	SNP	C	TCGA-06-6701-01A-11D-1845-08		23524268	83825272	34	7478											
ZNF710	374655	broad.mit.edu	37	chr15	90610834	90610834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtgcagagcagcgcCgtcaagatgatcgacctcag	9	6	13	13	3	2	3	2	1	0	2	3	4	2	3	3	1	3	2	3	1	1	0	rs552089563		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr15:90610834C>T	ENST00000268154.4	+	2	716	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGAGCAGCGCCGTCAAGATGA	0.687													C|||	1	0.000199681	0	0	5008	,	,		10939	0.001		0	False		,,,				2504	0					uc002bov.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(463-465)gcC>gcT		Homo sapiens zinc finger protein 710 (ZNF710), mRNA.							35	39	37					15																	90610834		2195	4291	6486	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610834C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.465C>T	15.37:g.90610834C>T							p.A155A	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		1	588	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		155					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.465C>T	CCDS10358.1																																																																																				0.687	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		T	90610834	C	T	90610834	2	4	109	1	0	0	0	0	0	0	0	1	18112	639	23	2		2	ZNF710	15	90610834	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		90610834	11920558	35	7479											
WDR90	197335	broad.mit.edu	37	chr16	703624	703624	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttccagaccgggcggTgcttgtgcctgttccggagc	4	9	16	12	3	0	1	0	0	0	1	2	3	2	3	4	4	3	2	4	4	0	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:703624T>G	ENST00000293879.4	+	12	1333	c.1333T>G	c.(1333-1335)Tgc>Ggc	p.C445G	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.C445G			Q96KV7	WDR90_HUMAN	WD repeat domain 90	445										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCGGGCGGTGCTTGTGCCT	0.657																																						uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1333-1335)Tgc>Ggc		Homo sapiens WD repeat domain 90 (WDR90), mRNA.							58	64	62					16																	703624		2045	4186	6231	SO:0001583	missense	197335							g.chr16:703624T>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1333T>G	16.37:g.703624T>G	ENSP00000293879:p.Cys445Gly					WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	p.C445G	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			11	1387	+		Hepatocellular(780;0.0218)	445					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1333T>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.740514	0.49045	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01335	5.0;5.0	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000001	T	0.12220	0.0297	H	0.94385	3.53	0.80722	D	1	D;D;P	0.89917	0.993;1.0;0.946	D;D;P	0.85130	0.973;0.997;0.876	T	0.04467	-1.0949	10	0.36615	T	0.2	.	13.4206	0.60996	0.0:0.0:0.0:1.0	.	445;446;445	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	G	445	ENSP00000448122:C445G;ENSP00000293879:C445G	ENSP00000293879:C445G	C	+	1	0	WDR90	643625	1.000000	0.71417	0.335000	0.25508	0.005000	0.04900	7.555000	0.82223	1.770000	0.52166	0.459000	0.35465	TGC		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		G	703624	T	G	703624	3	3	109	1	0	0	0	0	1	0	0	0	17334	1696	59	5	1379	5	WDR90	16	703624	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08		703624	89651129	36	7480											
IGFALS	3483	broad.mit.edu	37	chr16	1842222	1842222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccatcaggcaggcgcGtgaggttcctggagctgcag	7	7	16	11	2	1	1	1	1	0	0	3	3	3	3	2	5	2	4	2	5	0	1	rs145465654		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:1842222G>A	ENST00000215539.3	-	2	307	c.197C>T	c.(196-198)aCg>aTg	p.T66M	IGFALS_ENST00000568221.1_Missense_Mutation_p.R77C|IGFALS_ENST00000415638.3_Missense_Mutation_p.T104M			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	66	LRRNT.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGCAGGCGCGTGAGGTTCCT	0.692																																						uc010uvn.2																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(310-312)aCg>aTg		Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.							29	30	29					16																	1842222		2197	4300	6497	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842222G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.197C>T	16.37:g.1842222G>A	ENSP00000215539:p.Thr66Met					IGFALS_uc002cmy.3_Missense_Mutation_p.T66M|IGFALS_uc010uvo.2_5'UTR	p.T104M	NM_001146006	NP_001139478	P35858	ALS_HUMAN			1	392	-			66					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.311C>T	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298070	0.23650	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	D;D	0.97553	-4.43;-4.43	5.33	2.01	0.26516	Leucine-rich repeat-containing N-terminal (2);	0.057866	0.64402	D	0.000002	D	0.94381	0.8193	L	0.60845	1.875	0.33621	D	0.604799	P;P	0.43431	0.807;0.649	B;B	0.38954	0.197;0.286	D	0.93949	0.7230	10	0.62326	D	0.03	.	9.1409	0.36903	0.0783:0.2761:0.6457:0.0	.	104;66	E9PGU3;P35858	.;ALS_HUMAN	M	66;104	ENSP00000215539:T66M;ENSP00000416683:T104M	ENSP00000215539:T66M	T	-	2	0	IGFALS	1782223	1.000000	0.71417	0.581000	0.28614	0.009000	0.06853	3.870000	0.56070	0.591000	0.29711	-0.272000	0.10252	ACG		0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			A	1842222	G	A	1842222	3	1	109	1	0	0	0	0	1	0	0	0	7577	1145	40	1	1624	1	IGFALS	16	1842222	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	1138598	1842222	88512531	37	7481											
A2BP1	54715	broad.mit.edu	37	chr16	7568147	7568148	+	Splice_Site	INS	-	-	G																															tgcacctttttgatttttcaINSgggtaatcaggaagcagccg																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:7568147_7568148insG	ENST00000550418.1	+	5	1015		c.e5-1		RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGATTTTTCAGGGTAATCAGG	0.574																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.e5-1		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.																																				SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568147_7568148insG	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-1->G	16.37:g.7568150_7568150dupG						RBFOX1_uc010buf.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyr.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyt.2_Splice_Site_p.G10_splice|RBFOX1_uc010uxz.1_Splice_Site_p.G53_splice|RBFOX1_uc010uya.1_Splice_Site_p.G46_splice|RBFOX1_uc002cyv.1_Splice_Site_p.G10_splice|RBFOX1_uc010uyb.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyw.2_Splice_Site_p.G30_splice|RBFOX1_uc002cyy.2_Splice_Site_p.G30_splice|RBFOX1_uc002cyx.2_Splice_Site_p.G30_splice|RBFOX1_uc010uyc.1_Splice_Site_p.G30_splice	p.G10_splice	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			5	1016	+			10					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	INS	ENST00000550418.1	37	c.28_splice	CCDS55983.1																																																																																				0.574	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Intron	G	7568148	-	G	7568147	8	5	109	1	0	1	1	0	0	0	1	0	3	202	7	0	123	0	A2BP1	16	7568147	Splice_Site	INS	-	TCGA-06-6701-01A-11D-1845-08	5725925	7568147	82786606	38	7482											
TP53	7157	broad.mit.edu	37	chr17	7577096	7577097	+	Missense_Mutation	DNP	TC	TC	GG																															tctcttcctctgtgcgccggTctctcccaggacaggcacaa																								rs587781525		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:7577096_7577097TC>GG	ENST00000269305.4	-	8	1030_1031	c.841_842GA>CC	c.(841-843)GAc>CCc	p.D281P	TP53_ENST00000359597.4_Missense_Mutation_p.D281P|TP53_ENST00000455263.2_Missense_Mutation_p.D281P|TP53_ENST00000445888.2_Missense_Mutation_p.D281P|TP53_ENST00000420246.2_Missense_Mutation_p.D281P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281fs*63(2)|p.D281>AGPY(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTGCGCCGGTCTCTCCCAGGA	0.55		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		105	Substitution - Missense(78)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.D281G(20)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)	lung(19)|breast(15)|upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(11)|large_intestine(8)|urinary_tract(8)|ovary(8)|bone(5)|liver(5)|stomach(4)|central_nervous_system(4)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004343|CM056068|CM076566	TP53	M		c.(841-843)gac>CCc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577096_7577097TC>GG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841_842delinsGG	17.37:g.7577096_7577097delinsGG	ENSP00000269305:p.Asp281Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149P|TP53_uc010cnf.1_Missense_Mutation_p.D149P|TP53_uc002gii.1_Missense_Mutation_p.D149P|TP53_uc010cni.1_Missense_Mutation_p.D281P|TP53_uc010cnh.1_Missense_Mutation_p.D281P|TP53_uc002gij.2_Missense_Mutation_p.D281P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.D281P	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1035_1036	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	DNP	ENST00000269305.4	37	c.841_842GA>CC	CCDS11118.1																																																																																				0.55	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		GG	7577097	TC	GG	7577096	3	3	109	1	0	0	0	0	1	0	0	0	16378	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	DNP	TC	TCGA-06-6701-01A-11D-1845-08		7577096	73618114	39	7483											
DHRS7B	25979	broad.mit.edu	37	chr17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-																															gatgttcttgctgctgtgggGaagaagaagaaagatgtgat																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																						uc002gyo.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(841-846)gggaag>ggg		Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.																																				SO:0001651	inframe_deletion	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094331_21094333delGAA	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del						p.K285del	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN			6	887_889	+			285					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	ENST00000395511.3	37	c.843_845delGAA	CCDS11215.1																																																																																				0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		-	21094333	GAA	-	21094331	7	5	109	1	0	1	0	1	0	0	0	0	4496	1161	41	0	869	0	DHRS7B	17	21094331	In_Frame_Del	DEL	GAA	TCGA-06-6701-01A-11D-1845-08	13517235	21094331	60100879	40	7484											
FOXN1	8456	broad.mit.edu	37	chr17	26851529	26851529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctacccagaagcatgcCggcttcagctgctcgtcatt	7	11	9	14	2	3	1	2	0	1	1	4	1	3	1	2	1	5	4	2	1	2	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:26851529C>T	ENST00000226247.2	+	2	161	c.132C>T	c.(130-132)gcC>gcT	p.A44A	FOXN1_ENST00000579795.1_Silent_p.A44A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	44					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGAAGCATGCCGGCTTCAGCT	0.637																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(130-132)gcC>gcT		Homo sapiens forkhead box N1 (FOXN1), mRNA.							47	53	51					17																	26851529		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851529C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.132C>T	17.37:g.26851529C>T						FOXN1_uc002hbj.3_Silent_p.A44A	p.A44A	NM_003593	NP_003584	O15353	FOXN1_HUMAN			2	330	+	Lung NSC(42;0.00431)		44					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.132C>T	CCDS11232.1																																																																																				0.637	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			T	26851529	C	T	26851529	2	4	109	1	0	0	0	0	0	0	0	1	6019	639	23	2		2	FOXN1	17	26851529	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08	5757198	26851529	54343681	41	7485											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939701	27939701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgagatctccccagcGttgttcgaggccccgcgcgg	4	7	15	15	6	1	1	0	0	1	1	3	3	1	1	4	3	2	3	4	3	0	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:27939701G>A	ENST00000394859.3	+	13	1597	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	481						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCCCAGCGTTGTTCGAGG	0.751																																						uc002hei.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1441-1443)gcG>gcA		Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.							7	10	9					17																	27939701		2143	4219	6362	SO:0001819	synonymous_variant	124930							g.chr17:27939701G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1443G>A	17.37:g.27939701G>A						ANKRD13B_uc002heh.3_Silent_p.A349A|ANKRD13B_uc002hej.3_Non-coding_Transcript	p.A481A	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			12	1556	+			481					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1443G>A	CCDS11251.1																																																																																				0.751	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		A	27939701	G	A	27939701	2	1	109	1	0	0	0	0	0	0	0	1	642	1132	40	1		1	ANKRD13B	17	27939701	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	1088172	27939701	53255509	42	7486											
C18orf22	79863	broad.mit.edu	37	chr18	77794598	77794598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctgcgagcggggacttCactgctctgctgtctcctgc	4	10	13	14	2	3	0	1	0	2	0	4	2	3	1	1	3	5	3	1	3	0	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr18:77794598C>T	ENST00000306735.5	+	1	241	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.H35Y|RBFA_ENST00000262197.7_Missense_Mutation_p.H35Y|TXNL4A_ENST00000585474.1_5'Flank|RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	35					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCGGGGACTTCACTGCTCTGC	0.662																																						uc002lns.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(103-105)Cac>Tac		Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							28	32	31					18																	77794598		2203	4299	6502	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77794598C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.103C>T	18.37:g.77794598C>T	ENSP00000305696:p.His35Tyr					TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.H35Y|RBFA_uc010dri.2_Non-coding_Transcript	p.H35Y	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN			0	253	+			35					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.103C>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	c	16.89	3.246787	0.59103	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.56941	0.43;1.41	2.88	2.88	0.33553	.	0.318671	0.22352	U	0.061191	T	0.56717	0.2004	L	0.49126	1.545	0.09310	N	1	D;D	0.67145	0.978;0.996	P;P	0.56216	0.629;0.794	T	0.47947	-0.9077	10	0.72032	D	0.01	-10.77	9.3569	0.38173	0.0:1.0:0.0:0.0	.	35;35	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	Y	35	ENSP00000262197:H35Y;ENSP00000305696:H35Y	ENSP00000262197:H35Y	H	+	1	0	RBFA	75895586	0.976000	0.34144	0.019000	0.16419	0.012000	0.07955	1.336000	0.33850	1.614000	0.50241	0.556000	0.70494	CAC		0.662	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		T	77794598	C	T	77794598	3	4	109	1	0	0	0	0	1	0	0	0	1898	826	29	3	105	3	C18orf22	18	77794598	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		77794598	282650	43	7487											
MAST1	22983	broad.mit.edu	37	chr19	12977473	12977473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccgctccccagcccgctCagacaggtatcaccacgtga	9	6	8	18	3	2	2	2	1	0	1	3	2	3	2	5	1	2	3	5	1	2	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:12977473C>T	ENST00000251472.4	+	18	2075	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGCCCGCTCAGACAGGTAT	0.597																																						uc002mvm.3																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2035-2037)tCa>tTa		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							52	42	45					19																	12977473		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977473C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2036C>T	19.37:g.12977473C>T	ENSP00000251472:p.Ser679Leu						p.S679L	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			17	2164	+			679			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2036C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423539	0.96111	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23754	1.89	4.85	4.85	0.62838	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.40094	0.1103	M	0.77486	2.375	0.58432	D	0.999997	P	0.48230	0.907	P	0.47402	0.546	T	0.43147	-0.9409	10	0.56958	D	0.05	-14.6741	15.8252	0.78698	0.0:1.0:0.0:0.0	.	679	Q9Y2H9	MAST1_HUMAN	L	679	ENSP00000251472:S679L	ENSP00000251472:S679L	S	+	2	0	MAST1	12838473	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.747000	0.85070	2.410000	0.81850	0.563000	0.77884	TCA		0.597	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		T	12977473	C	T	12977473	3	4	109	1	0	0	0	0	1	0	0	0	9324	838	29	3	2106	3	MAST1	19	12977473	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		12977473	46151510	44	7488											
CYP4F8	11283	broad.mit.edu	37	chr19	15734860	15734860	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaacgctgccggcaggaGgtgcaagagcttctgaagga	12	5	15	9	2	1	3	0	1	1	2	1	5	1	5	1	4	4	4	1	4	4	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:15734860G>A	ENST00000441682.2	+	0	1132							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCGGCAGGAGGTGCAAGAGC	0.582																																						uc002nbi.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						c.(1066-1068)gaG>gaA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.							78	68	71					19																	15734860		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734860G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734860G>A						CYP4F8_uc010xoj.2_Silent_p.E169E	p.E356E	NM_007253	NP_009184	P98187	CP4F8_HUMAN			9	1132	+			357						Silent	SNP	ENST00000441682.2	37	c.1068G>A																																																																																					0.582	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		A	15734860	G	A	15734860	1	1	109	0	1	0	0	0	0	0	0	0	4191	991	35	3		3	CYP4F8	19	15734860	RNA	SNP	G	TCGA-06-6701-01A-11D-1845-08	2757387	15734860	43394123	45	7489											
PSG6	5675	broad.mit.edu	37	chr19	43420415	43420415	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaatatactgtttctcGtccactgtaggcaggcccat	9	13	9	10	1	1	0	0	0	1	0	3	1	2	1	2	3	1	3	2	3	4	5	rs112289603	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:43420415G>A	ENST00000292125.2	-	2	333	c.289C>T	c.(289-291)Cga>Tga	p.R97*	PSG6_ENST00000187910.2_Nonsense_Mutation_p.R97*|PSG6_ENST00000601833.1_Nonsense_Mutation_p.R26*|PSG6_ENST00000402603.4_Nonsense_Mutation_p.R97*	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	97	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTGTTTCTCGTCCACTGTAG	0.458													.|||	2	0.000399361	0	0	5008	,	,		21823	0		0.001	False		,,,				2504	0.001					uc002ovj.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(289-291)Cga>Tga		Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	2,4400		0,2,2199	368	332	344		289,289	-0.7	0	19	dbSNP_132	344	10,8588		0,10,4289	yes	stop-gained,stop-gained	PSG6	NM_001031850.2,NM_002782.3	,	0,12,6488	AA,AG,GG		0.1163,0.0454,0.0923	,	97/425,97/436	43420415	12,12988	2201	4299	6500	SO:0001587	stop_gained	5675				defense response|female pregnancy	extracellular region		g.chr19:43420415G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.289C>T	19.37:g.43420415G>A	ENSP00000292125:p.Arg97*					PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Nonsense_Mutation_p.R97*	p.R97*	NM_002782	NP_002773	Q00888	PSG4_HUMAN			1	388	-		Prostate(69;0.00682)	98			Ig-like V-type.		O75244|Q15224|Q15235|Q549K1	Nonsense_Mutation	SNP	ENST00000292125.2	37	c.289C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	15.01	2.705594	0.48412	4.54E-4	0.001163	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	.	.	.	2.24	-0.665	0.11403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6232	0.22814	0.0:0.0:0.4745:0.5255	.	.	.	.	X	97	.	ENSP00000187910:R97X	R	-	1	2	PSG6	48112255	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.184000	0.09698	-0.242000	0.09667	0.194000	0.17425	CGA		0.458	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		A	43420415	G	A	43420415	4	1	109	1	0	0	0	0	0	1	0	0	12659	1153	40	1	1077	1	PSG6	19	43420415	Nonsense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	27685555	43420415	15708568	46	7490											
DKKL1	27120	broad.mit.edu	37	chr19	49867855	49867855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctccccacctgccccCgcaaggcggcatctgctggt	6	6	10	19	2	1	0	0	0	1	0	2	0	2	0	6	3	3	3	6	3	1	0			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:49867855C>T	ENST00000221498.2	+	2	432	c.27C>T	c.(25-27)ccC>ccT	p.P9P	TEAD2_ENST00000593945.1_5'Flank|TEAD2_ENST00000539846.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000601519.1_5'Flank|DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	9					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCTGCCCCCGCAAGGCGGC	0.677																																						uc002pnk.3																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(25-27)ccC>ccT		Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.							36	32	33					19																	49867855		2203	4300	6503	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867855C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.27C>T	19.37:g.49867855C>T						TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Silent_p.P9P	p.P9P	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	1	241	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	9						Silent	SNP	ENST00000221498.2	37	c.27C>T	CCDS12762.1																																																																																				0.677	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		T	49867855	C	T	49867855	2	4	109	1	0	0	0	0	0	0	0	1	4548	639	23	2		2	DKKL1	19	49867855	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08	6447440	49867855	9261128	47	7491											
APOBEC3G	60489	broad.mit.edu	37	chr22	39479797	39479797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaccttgggtcagaggaCggcatgagacttacctgtgt	10	10	13	8	1	1	3	1	2	0	2	1	5	1	4	2	3	2	1	2	3	2	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr22:39479797C>T	ENST00000407997.3	+	5	1000	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R215W	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	215	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GGTCAGAGGACGGCATGAGAC	0.522																																						uc021wpr.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(643-645)Cgg>Tgg		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.							128	106	114					22																	39479797		2203	4300	6503	SO:0001583	missense	60489				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39479797C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.643C>T	22.37:g.39479797C>T	ENSP00000385057:p.Arg215Trp					APOBEC3F_uc003awx.3_Missense_Mutation_p.R215W|APOBEC3F_uc003awy.3_Missense_Mutation_p.R148W	p.R215W	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			4	936	+	Melanoma(58;0.04)		215					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.643C>T	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	8.882	0.951829	0.18431	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.74421	-0.84;-0.84	1.7	0.595	0.17490	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.81380	0.4810	M	0.70903	2.155	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.68868	-0.5295	9	0.72032	D	0.01	.	7.9953	0.30265	0.0:0.7456:0.2544:0.0	.	215	Q9HC16	ABC3G_HUMAN	W	215	ENSP00000413376:R215W;ENSP00000385057:R215W	ENSP00000385057:R215W	R	+	1	2	APOBEC3G	37809743	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.799000	0.04560	0.249000	0.21456	0.591000	0.81541	CGG		0.522	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		T	39479797	C	T	39479797	3	4	109	1	0	0	0	0	1	0	0	0	794	527	19	1	661	1	APOBEC3G	22	39479797	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		39479797	11824769	48	7492											
CSF2RA	1438	broad.mit.edu	37	chrX	1413266	1413266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtacgttgcaacacgaCgcactgcctcgtacggtgga	9	7	11	14	6	0	0	0	0	0	0	1	2	0	1	2	2	5	5	2	2	3	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:1413266C>T	ENST00000381524.3	+	8	878	c.692C>T	c.(691-693)aCg>aTg	p.T231M	BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T98M|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000494969.2_Intron|MIR3690_ENST00000580266.1_RNA|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T231M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T231M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T231M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T231M|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T231M|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T231M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T231M|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	231	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAACACGACGCACTGCCTC	0.572																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(691-693)aCg>aTg		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	Sargramostim(DB00020)		MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,	2,4404		0,2,2201	430	350	377		692,692,692,293,692,692,692,692,	1.5	0	X	dbSNP_134	377	5,8587		0,5,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense,intron	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	81,81,81,81,81,81,81,81,	0,7,6492	TT,TC,CC		0.0582,0.0454,0.0539	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	231/401,231/435,231/411,98/268,231/401,231/401,231/378,231/334,	1413266	7,12991	2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413266C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.692C>T	X.37:g.1413266C>T	ENSP00000370935:p.Thr231Met					CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T231M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T98M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T231M	p.T231M	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN			8	1014	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	231					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.692C>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.000	0.554650	0.13436	4.54E-4	5.82E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;T;D;D;D;D	0.96856	-4.15;-4.15;-2.24;-2.24;-4.15;0.86;-4.15;-2.24;-4.15;-2.24	1.54	1.54	0.23209	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.040400	0.07667	U	0.934864	D	0.90916	0.7145	.	.	.	0.09310	N	1	B;B;B;P;B	0.39601	0.388;0.381;0.388;0.68;0.381	B;B;B;B;B	0.25614	0.062;0.02;0.062;0.045;0.02	D	0.84648	0.0699	9	0.62326	D	0.03	.	6.3374	0.21304	0.0:1.0:0.0:0.0	.	231;231;231;231;231	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	M	231;231;231;231;98;231;231;231;231;231;231	ENSP00000370940:T231M;ENSP00000416437:T231M;ENSP00000354836:T231M;ENSP00000440491:T98M;ENSP00000370935:T231M;ENSP00000410667:T231M;ENSP00000370920:T231M;ENSP00000347606:T231M;ENSP00000394227:T231M;ENSP00000370911:T231M	ENSP00000347606:T231M	T	+	2	0	CSF2RA	1373266	0.003000	0.15002	0.003000	0.11579	0.064000	0.16182	1.145000	0.31577	0.818000	0.34468	0.100000	0.15512	ACG		0.572	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1413266	C	T	1413266	3	4	109	1	0	0	0	0	1	0	0	0	3934	536	19	1	714	1	CSF2RA	23	1413266	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		1413266	153857294	49	7493											
ATRX	546	broad.mit.edu	37	chrX	76888787	76888792	+	In_Frame_Del	DEL	ATGATC	ATGATC	-																															ttctatacatctcatagcctAtgatcataacaccaccatct																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:76888787_76888792delATGATC	ENST00000373344.5	-	19	5251_5256	c.5037_5042delGATCAT	c.(5035-5043)atgatcata>ata	p.MI1679del	ATRX_ENST00000395603.3_In_Frame_Del_p.MI1641del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1679	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCATAGCCTATGATCATAACACCAC	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM005474	ATRX	M		c.(5035-5043)atgatcata>ata		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76888787_76888792delATGATC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5037_5042delGATCAT	X.37:g.76888787_76888792delATGATC	ENSP00000362441:p.Met1679_Ile1680del					ATRX_uc004ecq.4_In_Frame_Del_p.MI1641del|ATRX_uc004eco.4_In_Frame_Del_p.MI1464del	p.MI1679del	NM_000489	NP_000480	P46100	ATRX_HUMAN			18	5269_5274	-			1679			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.5037_5042delGATCAT	CCDS14434.1																																																																																				0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76888792	ATGATC	-	76888787	7	5	109	1	0	1	0	1	0	0	0	0	1208	449	16	0	2504	0	ATRX	23	76888787	In_Frame_Del	DEL	ATGATC	TCGA-06-6701-01A-11D-1845-08	75475521	76888787	78381773	50	7494											
CMPK1	51727	broad.mit.edu	37	chr1	47838725	47838725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggatggaacaagacCatggatgggaaggcagatgt	14	7	14	6	0	1	2	1	0	0	2	1	6	1	6	1	5	1	1	1	5	4	1			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:47838725C>T	ENST00000371873.5	+	3	566	c.417C>T	c.(415-417)acC>acT	p.T139T	CMPK1_ENST00000450808.2_Silent_p.T90T	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						GGAACAAGACCATGGATGGGA	0.388																																						uc001cri.3																			0				endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						c.(415-417)acC>acT		Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA.	Gemcitabine(DB00441)						146	127	133					1																	47838725		2203	4300	6503	SO:0001819	synonymous_variant	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47838725C>T	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"UMP-CMP kinase", "Cytidine monophosphate kinase"	191710	"cytidylate kinase"	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.417C>T	1.37:g.47838725C>T						CMPK1_uc010omp.2_Silent_p.T90T|CMPK1_uc010omq.2_Non-coding_Transcript	p.T139T	NM_016308	NP_057392	P30085	KCY_HUMAN			2	566	+			107						Silent	SNP	ENST00000371873.5	37	c.417C>T	CCDS549.1																																																																																				0.388	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308		T	47838725	C	T	47838725	2	4	110	1	0	0	0	0	0	0	0	1	3580	581	21	3		3	CMPK1	1	47838725	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		47838725	201411896	1	7495											
DDAH1	23576	broad.mit.edu	37	chr1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttctggatactcttccGgggttcggtgcagcaagacg	7	11	12	11	3	2	1	0	0	2	1	4	2	3	2	1	4	3	3	1	4	2	4			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:85790448G>A	ENST00000284031.8	-	5	810	c.716C>T	c.(715-717)cCg>cTg	p.P239L	DDAH1_ENST00000535924.2_Missense_Mutation_p.P136L|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.P139L|DDAH1_ENST00000426972.3_Missense_Mutation_p.P146L|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.P239L|DDAH1_ENST00000483110.1_5'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	239					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473																																						uc001dlb.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5						c.(715-717)cCg>cTg		Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	L-Citrulline(DB00155)						108	107	108					1																	85790448		2203	4300	6503	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85790448G>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.716C>T	1.37:g.85790448G>A	ENSP00000284031:p.Pro239Leu					DDAH1_uc001dlc.3_Missense_Mutation_p.P136L|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.P139L|DDAH1_uc009wco.3_Missense_Mutation_p.P136L	p.P239L	NM_012137	NP_001127917	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	4	877	-			239					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.716C>T	CCDS705.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292188	0.59976	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.87	4.96	0.65561	.	0.159055	0.64402	D	0.000020	T	0.72566	0.3476	M	0.87328	2.875	0.80722	D	1	B;D	0.71674	0.438;0.998	B;P	0.58210	0.139;0.835	T	0.78740	-0.2086	9	0.56958	D	0.05	-2.6721	14.974	0.71257	0.0682:0.0:0.9318:0.0	.	139;239	B4DYP1;O94760	.;DDAH1_HUMAN	L	239;239;136;146;139	.	ENSP00000284031:P239L	P	-	2	0	DDAH1	85563036	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.431000	0.97494	1.501000	0.48654	-0.136000	0.14681	CCG		0.473	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			A	85790448	G	A	85790448	3	1	110	1	0	0	0	0	1	0	0	0	4321	1116	39	2	149	2	DDAH1	1	85790448	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08	37951723	85790448	163460173	2	7496											
PKN2	5586	broad.mit.edu	37	chr1	89294277	89294277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattggtggggccttggcGtgcttatatatgaaatgctt	8	15	13	5	1	0	2	0	1	0	1	0	2	0	2	1	4	2	2	1	4	5	7			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:89294277G>A	ENST00000370521.3	+	19	2892	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	PKN2_ENST00000544045.1_Missense_Mutation_p.V519M|PKN2_ENST00000370505.3_Missense_Mutation_p.V688M|PKN2_ENST00000370513.5_Missense_Mutation_p.V797M	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	845	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGGCCTTGGCGTGCTTATATA	0.383																																						uc001dmn.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(2533-2535)Gtg>Atg		Homo sapiens protein kinase N2 (PKN2), mRNA.							108	101	103					1																	89294277		1873	4108	5981	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89294277G>A	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2533G>A	1.37:g.89294277G>A	ENSP00000359552:p.Val845Met					PKN2_uc010osp.2_Missense_Mutation_p.V829M|PKN2_uc010osq.2_Missense_Mutation_p.V688M|PKN2_uc009wcv.3_Missense_Mutation_p.V797M|PKN2_uc010osr.2_Missense_Mutation_p.V510M	p.V845M	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	18	2875	+		Lung NSC(277;0.123)	845			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2533G>A	CCDS714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.50|18.50	3.638327|3.638327	0.67130|0.67130	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000449189|ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.185630	.|0.25200	.|U	.|0.032387	T|T	0.40595|0.40595	0.1123|0.1123	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.53619	.|0.961;0.919;0.561	.|P;B;B	.|0.48901	.|0.594;0.341;0.076	T|T	0.47005|0.47005	-0.9150|-0.9150	5|10	.|0.72032	.|D	.|0.01	.|.	19.3595|19.3595	0.94431|0.94431	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|829;797;845	.|B4DTP5;E7ESL7;Q16513	.|.;.;PKN2_HUMAN	H|M	52|845;688;797;519;99	.|ENSP00000359552:V845M;ENSP00000359536:V688M;ENSP00000359544:V797M;ENSP00000439643:V519M	.|ENSP00000359536:V688M	R|V	+|+	2|1	0|0	PKN2|PKN2	89066865|89066865	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	9.263000|9.263000	0.95617|0.95617	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.383	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		A	89294277	G	A	89294277	3	1	110	1	0	0	0	0	1	0	0	0	11980	1145	40	1	2607	1	PKN2	1	89294277	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08	3503829	89294277	159956344	3	7497											
OR14C36	127066	broad.mit.edu	37	chr1	248512862	248512862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtacctcaggccacctgcGatacctgcagccacccagga	9	6	10	16	1	1	0	1	0	0	0	1	2	1	1	6	2	5	2	6	2	2	2	rs143199703		TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:248512862G>A	ENST00000317861.1	+	1	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A262A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCCACCTGCGATACCTGCAG	0.463																																						uc010pzl.2																			1	Substitution - coding silent(1)	p.A262A(2)	skin(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(784-786)gcG>gcA		Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.							152	112	126					1																	248512862		2203	4300	6503	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512862G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.786G>A	1.37:g.248512862G>A							p.A262A	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			0	786	+			262					Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.786G>A	CCDS31112.1																																																																																				0.463	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		A	248512862	G	A	248512862	2	1	110	1	0	0	0	0	0	0	0	1	10946	1045	37	2		2	OR14C36	1	248512862	Silent	SNP	G	TCGA-08-0386-01A-01D-1492-08	159218585	248512862	737759	4	7498											
PLCD1	5333	broad.mit.edu	37	chr3	38051499	38051499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacgcgctgctgctccaGtgtgcagtggttctccaggg	5	10	13	13	2	2	0	1	0	1	0	4	0	3	0	2	2	3	5	2	2	0	1			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr3:38051499G>C	ENST00000334661.4	-	8	1405	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.L416V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	395	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGCTGCTCCAGTGTGCAGTGG	0.647																																						uc003chm.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1246-1248)Ctg>Gtg		Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.							62	65	64					3																	38051499		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38051499G>C		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1183C>G	3.37:g.38051499G>C	ENSP00000335600:p.Leu395Val					PLCD1_uc003chn.3_Missense_Mutation_p.L395V	p.L416V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	7	1600	-			395			PI-PLC X-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1246C>G	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	2.560	-0.301959	0.05495	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.63255	-0.03;-0.03	4.92	0.993	0.19825	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.133081	0.51477	N	0.000087	T	0.31009	0.0783	N	0.03194	-0.395	0.40644	D	0.98197	B;B	0.25169	0.119;0.017	B;B	0.31812	0.136;0.05	T	0.21895	-1.0232	10	0.05620	T	0.96	.	7.3756	0.26827	0.2039:0.2222:0.5739:0.0	.	395;416	P51178;B3KR14	PLCD1_HUMAN;.	V	416;395	ENSP00000430344:L416V;ENSP00000335600:L395V	ENSP00000335600:L395V	L	-	1	2	PLCD1	38026503	0.788000	0.28762	1.000000	0.80357	0.568000	0.35870	0.626000	0.24492	0.227000	0.20999	-0.456000	0.05471	CTG		0.647	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			C	38051499	G	C	38051499	3	2	110	1	0	0	0	0	1	0	0	0	12031	1020	36	5	1119	5	PLCD1	3	38051499	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		38051499	159970931	5	7499											
MTMR12	54545	broad.mit.edu	37	chr5	32230234	32230234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactttgatttcgggcccctCgatatgcggtaacaacaaac	11	10	9	11	3	0	1	0	1	0	0	2	3	0	1	2	2	4	1	2	2	4	4			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr5:32230234C>T	ENST00000382142.3	-	16	2064	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	MTMR12_ENST00000280285.5_Missense_Mutation_p.E578K|MTMR12_ENST00000264934.5_Missense_Mutation_p.E522K|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	632	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGGGCCCCTCGATATGCGGT	0.493																																						uc003jhq.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1894-1896)Gag>Aag		Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.							96	96	96					5																	32230234		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230234C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1894G>A	5.37:g.32230234C>T	ENSP00000371577:p.Glu632Lys					MTMR12_uc010iuk.3_Missense_Mutation_p.E578K|MTMR12_uc010iul.3_Missense_Mutation_p.E522K	p.E632K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			15	2064	-			632			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1894G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277102	0.59758	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90261	-2.64;-2.64;-2.64	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);	0.239644	0.41500	D	0.000862	D	0.92283	0.7552	L	0.54323	1.7	0.33133	D	0.543326	D;D;D	0.61080	0.981;0.986;0.989	P;P;P	0.51895	0.615;0.555;0.683	D	0.94062	0.7327	10	0.66056	D	0.02	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	522;578;632	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	578;632;522	ENSP00000280285:E578K;ENSP00000371577:E632K;ENSP00000264934:E522K	ENSP00000264934:E522K	E	-	1	0	MTMR12	32265991	1.000000	0.71417	0.936000	0.37596	0.066000	0.16364	6.195000	0.72088	2.733000	0.93635	0.561000	0.74099	GAG		0.493	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		T	32230234	C	T	32230234	3	4	110	1	0	0	0	0	1	0	0	0	9941	893	31	2	353	2	MTMR12	5	32230234	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08		32230234	148685026	6	7500											
PHF1	5252	broad.mit.edu	37	chr6	33380059	33380059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggcgcagcccccccggCtgagccgctctggtgcctcc	4	6	12	19	3	1	1	0	1	1	0	2	1	2	1	6	3	3	3	6	3	1	0			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:33380059C>T	ENST00000374516.3	+	2	290	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Silent_p.L7L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	7					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCCCCCCCGGCTGAGCCGCTC	0.597																																						uc003oeh.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(19-21)Ctg>Ttg		Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.							26	29	28					6																	33380059		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33380059C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.19C>T	6.37:g.33380059C>T						PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.L7L|PHF1_uc010jux.3_5'UTR	p.L7L	NM_024165	NP_077084	O43189	PHF1_HUMAN			1	255	+		Ovarian(999;0.0443)	7					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.19C>T	CCDS4777.1																																																																																				0.597	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			T	33380059	C	T	33380059	2	4	110	1	0	0	0	0	0	0	0	1	11820	796	28	3		3	PHF1	6	33380059	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		33380059	137735008	7	7501											
COL21A1	81578	broad.mit.edu	37	chr6	56044496	56044496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaagttcggcatcttctgTttctgaaccaacaccaatag	11	13	6	11	1	4	1	0	1	4	0	5	1	4	1	2	1	2	3	2	1	5	5			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:56044496T>C	ENST00000244728.5	-	3	917	c.520A>G	c.(520-522)Aca>Gca	p.T174A	COL21A1_ENST00000370819.1_Missense_Mutation_p.T174A|COL21A1_ENST00000535941.1_Missense_Mutation_p.T174A	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	174	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCATCTTCTGTTTCTGAACCA	0.398																																						uc003pcs.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(520-522)Aca>Gca		Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.							94	88	90					6																	56044496		1944	4151	6095	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044496T>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.520A>G	6.37:g.56044496T>C	ENSP00000244728:p.Thr174Ala					COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A	p.T174A	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	752	-	Lung NSC(77;0.0483)		174			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.520A>G	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995192	0.35226	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.81579	-1.51;-1.51;-1.51	4.66	4.66	0.58398	von Willebrand factor, type A (3);	0.099894	0.41605	D	0.000857	T	0.38532	0.1044	N	0.04355	-0.22	0.80722	D	1	P;B	0.41131	0.739;0.008	B;B	0.36464	0.225;0.023	T	0.60796	-0.7192	10	0.02654	T	1	.	14.3873	0.66953	0.0:0.0:0.0:1.0	.	174;174	Q96P44-3;Q96P44	.;COLA1_HUMAN	A	174	ENSP00000244728:T174A;ENSP00000359855:T174A;ENSP00000444384:T174A	ENSP00000244728:T174A	T	-	1	0	COL21A1	56152455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.026000	0.57232	1.851000	0.53745	0.477000	0.44152	ACA		0.398	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			C	56044496	T	C	56044496	3	2	110	1	0	0	0	0	1	0	0	0	3680	1725	60	4	2465	4	COL21A1	6	56044496	Missense_Mutation	SNP	T	TCGA-08-0386-01A-01D-1492-08	22664437	56044496	115070571	8	7502											
CRY2	1408	broad.mit.edu	37	chr11	45891983	45891983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtgcatcattggtgtGgactacccacggcccatcgt	8	9	11	13	2	1	0	1	0	0	0	2	1	1	1	3	3	2	1	3	3	2	2			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr11:45891983G>A	ENST00000443527.2	+	9	1534	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	CRY2_ENST00000417225.2_Silent_p.V422V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	483					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCATTGGTGTGGACTACCCAC	0.532																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.2																			0		p.M503I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1510-1512)gtG>gtA		Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.							101	86	91					11																	45891983		2203	4299	6502	SO:0001819	synonymous_variant	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891983G>A	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1512G>A	11.37:g.45891983G>A						CRY2_uc009ykw.3_Silent_p.V422V|CRY2_uc010rgo.2_Silent_p.V226V	p.V504V	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			8	1534	+			483			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	ENST00000443527.2	37	c.1512G>A	CCDS7915.2																																																																																				0.532	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		A	45891983	G	A	45891983	2	1	110	1	0	0	0	0	0	0	0	1	3904	1335	47	3		3	CRY2	11	45891983	Silent	SNP	G	TCGA-08-0386-01A-01D-1492-08		45891983	89114533	9	7503											
P2RX2	22953	broad.mit.edu	37	chr12	133197851	133197853	+	In_Frame_Del	DEL	TAC	TAC	-																															cccattgcaggtttgccaaaTactacaagatcaatggcacc																										TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr12:133197851_133197853delTAC	ENST00000389110.3	+	9	953_955	c.916_918delTAC	c.(916-918)tacdel	p.Y307del	P2RX2_ENST00000343948.4_In_Frame_Del_p.Y307del|P2RX2_ENST00000352418.4_In_Frame_Del_p.Y235del|P2RX2_ENST00000348800.5_In_Frame_Del_p.Y307del|P2RX2_ENST00000351222.4_In_Frame_Del_p.Y215del|P2RX2_ENST00000350048.5_In_Frame_Del_p.Y283del|P2RX2_ENST00000449132.2_In_Frame_Del_p.Y273del	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	307					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTTTGCCAAATACTACAAGATCA	0.606																																						uc001ukk.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(916-918)tacdel		Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.																																				SO:0001651	inframe_deletion	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197851_133197853delTAC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.916_918delTAC	12.37:g.133197854_133197856delTAC	ENSP00000373762:p.Tyr307del					P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukj.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del	p.Y307del	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	8	916_918	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	307					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	In_Frame_Del	DEL	ENST00000389110.3	37	c.916_918delTAC	CCDS31931.1																																																																																				0.606	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			-	133197853	TAC	-	133197851	7	5	110	1	0	1	0	1	0	0	0	0	11340	1406	49	0	950	0	P2RX2	12	133197851	In_Frame_Del	DEL	TAC	TCGA-08-0386-01A-01D-1492-08		133197851	654044	10	7504											
RIPK3	11035	broad.mit.edu	37	chr14	24808471	24808471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgataaccccttctaggCgcagcacgaattcgttatcc	9	11	7	14	4	2	0	0	0	2	0	5	2	3	0	3	1	2	3	3	1	4	5			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr14:24808471C>T	ENST00000216274.5	-	3	439	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCCTTCTAGGCGCAGCACGAA	0.577																																					Pancreas(58;918 1191 4668 13304 15331)	uc001wpb.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(220-222)cGc>cAc		Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.							98	84	89					14																	24808471		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808471C>T	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.221G>A	14.37:g.24808471C>T	ENSP00000216274:p.Arg74His					RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H	p.R74H	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	431	-			74			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.221G>A	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270086	0.59540	.	.	ENSG00000129465	ENST00000216274	T	0.64803	-0.12	4.69	-9.39	0.00619	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.414830	0.04606	N	0.399321	T	0.56062	0.1960	L	0.37466	1.105	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.60609	0.877;0.791	T	0.61382	-0.7074	10	0.37606	T	0.19	-0.0924	1.2097	0.01902	0.1463:0.3213:0.2326:0.2999	.	74;74	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	H	74	ENSP00000216274:R74H	ENSP00000216274:R74H	R	-	2	0	RIPK3	23878311	0.004000	0.15560	0.000000	0.03702	0.013000	0.08279	-0.532000	0.06164	-1.975000	0.00997	-0.397000	0.06425	CGC		0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		T	24808471	C	T	24808471	3	4	110	1	0	0	0	0	1	0	0	0	13382	768	27	1	1367	1	RIPK3	14	24808471	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08		24808471	82541069	11	7505											
MYH1	4619	broad.mit.edu	37	chr17	10404048	10404048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgatcttctagagcgcGgcacatcttttcaaggtttc	8	14	9	10	2	4	2	1	1	3	1	5	2	4	2	0	2	1	3	0	2	2	6			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr17:10404048G>A	ENST00000226207.5	-	28	3854	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1254					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTAGAGCGCGGCACATCTTT	0.448																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3760-3762)Cgc>Tgc		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							138	123	128					17																	10404048		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404048G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3760C>T	17.37:g.10404048G>A	ENSP00000226207:p.Arg1254Cys					AK097500_uc002gml.1_Intron	p.R1254C	NM_005963	NP_005954	P12882	MYH1_HUMAN			27	3854	-			1254					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3760C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147411	0.77888	.	.	ENSG00000109061	ENST00000226207	T	0.79247	-1.25	5.45	5.45	0.79879	Myosin tail (1);	0.000000	0.43110	U	0.000603	D	0.92331	0.7567	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.94239	0.7483	10	0.87932	D	0	.	19.6413	0.95758	0.0:0.0:1.0:0.0	.	1254	P12882	MYH1_HUMAN	C	1254	ENSP00000226207:R1254C	ENSP00000226207:R1254C	R	-	1	0	MYH1	10344773	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	2.025000	0.41059	2.716000	0.92895	0.650000	0.86243	CGC		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10404048	G	A	10404048	3	1	110	1	0	0	0	0	1	0	0	0	10029	1116	39	2	2111	2	MYH1	17	10404048	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		10404048	70791162	12	7506											
ACTN4	81	broad.mit.edu	37	chr19	39205183	39205183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacctgatggaggactaCgagaagctggccagcgacgt	11	5	15	10	3	0	2	0	1	0	1	0	7	0	4	2	3	4	2	2	3	2	1	rs568574676	byFrequency	TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:39205183C>T	ENST00000252699.2	+	9	970	c.894C>T	c.(892-894)taC>taT	p.Y298Y	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Silent_p.Y79Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	298					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGACTACGAGAAGCTGG	0.582													C|||	4	0.000798722	0	0	5008	,	,		20116	0.004		0	False		,,,				2504	0				Colon(168;199 1940 10254 46213 46384)	uc002oja.2																			0		p.D297N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(892-894)taC>taT		Homo sapiens actinin, alpha 4 (ACTN4), mRNA.							98	79	86					19																	39205183		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39205183C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.894C>T	19.37:g.39205183C>T						ACTN4_uc010egc.2_Silent_p.Y298Y|ACTN4_uc021uug.1_Silent_p.Y79Y	p.Y298Y	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1013	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		298					A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.894C>T	CCDS12518.1																																																																																				0.582	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			T	39205183	C	T	39205183	2	4	110	1	0	0	0	0	0	0	0	1	207	547	19	1		1	ACTN4	19	39205183	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		39205183	19923800	13	7507											
SPHK2	56848	broad.mit.edu	37	chr19	49132916	49132916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgctcacaccacgcggCgtgctcacagtggacgggga	8	4	15	14	5	2	0	2	0	0	0	2	3	2	2	2	4	2	2	2	4	0	0			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:49132916C>T	ENST00000245222.4	+	7	2217	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	SPHK2_ENST00000599029.1_Silent_p.G581G|SPHK2_ENST00000340932.3_Silent_p.G579G|SPHK2_ENST00000443164.1_Silent_p.G679G|SPHK2_ENST00000600537.1_Silent_p.G558G|SPHK2_ENST00000598088.1_Silent_p.G617G|SPHK2_ENST00000599748.1_Silent_p.G581G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	617					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACCACGCGGCGTGCTCACAG	0.682																																						uc002pjw.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(2035-2037)ggC>ggT		Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.							18	16	17					19																	49132916		2197	4294	6491	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132916C>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1851C>T	19.37:g.49132916C>T						SPHK2_uc010xzt.2_Silent_p.G558G|SPHK2_uc002pjt.3_Silent_p.G411G|SPHK2_uc002pjr.3_Silent_p.G617G|SPHK2_uc002pjs.3_Silent_p.G617G|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.G581G	p.G679G	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	2734	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	617					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.2037C>T	CCDS12727.1																																																																																				0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			T	49132916	C	T	49132916	2	4	110	1	0	0	0	0	0	0	0	1	15046	755	27	1		1	SPHK2	19	49132916	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08	9927733	49132916	9996067	14	7508											
NLRP5	126206	broad.mit.edu	37	chr19	56539737	56539737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaagaagtgtggcttcCgattaaccagaacctggact	11	10	9	11	1	0	2	0	0	0	2	2	4	2	3	4	2	2	1	4	2	4	3	rs368341158		TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:56539737C>T	ENST00000390649.3	+	7	2138	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	713					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTGGCTTCCGATTAACCAG	0.493																																						uc002qmj.3																			0		p.L712V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2137-2139)cCg>cTg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.		C	LEU/PRO	0,3974		0,0,1987	133	136	135		2138	-0.3	0	19		135	1,8343		0,1,4171	no	missense	NLRP5	NM_153447.4	98	0,1,6158	TT,TC,CC		0.012,0.0,0.0081	benign	713/1201	56539737	1,12317	1987	4172	6159	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539737C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2138C>T	19.37:g.56539737C>T	ENSP00000375063:p.Pro713Leu					NLRP5_uc002qmi.3_Missense_Mutation_p.P694L	p.P713L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	2138	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	713					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2138C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219792	0.22373	0.0	1.2E-4	ENSG00000171487	ENST00000390649	D	0.86956	-2.19	3.26	-0.292	0.12839	.	0.734945	0.11235	N	0.585277	T	0.70439	0.3224	N	0.17674	0.51	0.09310	N	1	B	0.26577	0.153	B	0.17722	0.019	T	0.54892	-0.8225	10	0.22706	T	0.39	.	1.7075	0.02885	0.2143:0.4524:0.2089:0.1244	.	713	P59047	NALP5_HUMAN	L	713	ENSP00000375063:P713L	ENSP00000375063:P713L	P	+	2	0	NLRP5	61231549	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.660000	0.05317	0.034000	0.15491	0.561000	0.74099	CCG		0.493	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539737	C	T	56539737	3	4	110	1	0	0	0	0	1	0	0	0	10480	652	23	2	2164	2	NLRP5	19	56539737	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08	7406821	56539737	2589246	15	7509											
MZF1	7593	broad.mit.edu	37	chr19	59081801	59081801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgtcttgggcccaggctCtggagttggaggctcagttt	5	12	16	8	0	3	0	1	0	2	0	3	2	3	2	1	6	0	4	1	6	0	3			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:59081801C>G	ENST00000215057.2	-	3	1050	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	MZF1_ENST00000594108.1_Missense_Mutation_p.E164Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E164Q|MZF1_ENST00000599369.1_Missense_Mutation_p.E164Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	164					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCCCAGGCTCTGGAGTTGGA	0.582																																						uc002qto.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(490-492)Gag>Cag		Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.							119	107	111					19																	59081801		2203	4300	6503	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59081801C>G	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.490G>C	19.37:g.59081801C>G	ENSP00000215057:p.Glu164Gln					LOC100131691_uc002qtm.3_Non-coding_Transcript|MZF1_uc002qtn.3_Missense_Mutation_p.E164Q|MZF1_uc010euu.1_Missense_Mutation_p.E205Q	p.E164Q	NM_198055	NP_932172	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	2	1051	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	164					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.490G>C	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.322	0.617161	0.14129	.	.	ENSG00000099326	ENST00000215057	T	0.07216	3.21	4.99	3.92	0.45320	.	0.398692	0.18276	N	0.146148	T	0.04407	0.0121	N	0.08118	0	0.22199	N	0.999299	P;B	0.37955	0.612;0.07	B;B	0.35607	0.206;0.038	T	0.42189	-0.9466	9	.	.	.	-7.2672	11.2062	0.48771	0.0:0.8145:0.1855:0.0	.	164;164	Q7Z729;P28698	.;MZF1_HUMAN	Q	164	ENSP00000215057:E164Q	.	E	-	1	0	MZF1	63773613	0.000000	0.05858	0.776000	0.31678	0.056000	0.15407	-0.371000	0.07513	1.403000	0.46800	0.655000	0.94253	GAG		0.582	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		G	59081801	C	G	59081801	3	3	110	1	0	0	0	0	1	0	0	0	10108	922	32	5	1730	5	MZF1	19	59081801	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08	2542064	59081801	47182	16	7510											
MX1	4599	broad.mit.edu	37	chr21	42812934	42812934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcccaggaggtggaccccGagggagacaggaccatcggt	9	4	17	11	2	0	1	0	0	0	1	1	6	0	4	4	7	0	0	4	7	0	0			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr21:42812934G>A	ENST00000398600.2	+	11	1737	c.712G>A	c.(712-714)Gag>Aag	p.E238K	MX1_ENST00000455164.2_Missense_Mutation_p.E238K|MX1_ENST00000398598.3_Missense_Mutation_p.E238K|MX1_ENST00000288383.6_Missense_Mutation_p.E215K|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	238	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGTGGACCCCGAGGGAGACAG	0.632																																						uc010goq.3																			0		p.P237S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(712-714)Gag>Aag		Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.							64	64	64					21																	42812934		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42812934G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.712G>A	21.37:g.42812934G>A	ENSP00000381601:p.Glu238Lys					MX1_uc002yzh.3_Missense_Mutation_p.E238K|MX1_uc002yzi.3_Missense_Mutation_p.E238K	p.E238K	NM_001178046	NP_002453	P20591	MX1_HUMAN			6	1058	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	238					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.712G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106653	0.37145	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	4.65	1.82	0.25136	Dynamin, GTPase domain (2);	0.877222	0.10255	N	0.696656	D	0.91300	0.7257	L	0.37850	1.14	0.09310	N	1	B	0.28291	0.206	B	0.21917	0.037	D	0.83751	0.0209	10	0.45353	T	0.12	-10.5695	3.365	0.07201	0.3304:0.2251:0.4446:0.0	.	238	P20591	MX1_HUMAN	K	238;238;238;215	ENSP00000381601:E238K;ENSP00000381599:E238K;ENSP00000410523:E238K;ENSP00000288383:E215K	ENSP00000288383:E215K	E	+	1	0	MX1	41734804	0.000000	0.05858	0.042000	0.18584	0.931000	0.56810	0.075000	0.14686	0.641000	0.30601	0.650000	0.86243	GAG		0.632	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			A	42812934	G	A	42812934	3	1	110	1	0	0	0	0	1	0	0	0	9997	1059	37	2	730	2	MX1	21	42812934	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		42812934	5316961	17	7511											
IL28RA	163702	broad.mit.edu	37	chr1	24507335	24507335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctggggaggggccagaCggggcctccctgggggaaag	7	5	19	10	1	1	1	0	0	1	1	2	3	2	3	3	8	0	0	3	8	1	1	rs200375008	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:24507335C>T	ENST00000327535.1	-	2	80	c.68G>A	c.(67-69)cGt>cAt	p.R23H	IFNLR1_ENST00000374421.3_Missense_Mutation_p.R23H|IFNLR1_ENST00000374418.3_Missense_Mutation_p.R23H|IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000327575.2_Missense_Mutation_p.R23H	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	23					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											AGGGGCCAGACGGGGCCTCCC	0.612													C|||	3	0.000599042	8e-04	0	5008	,	,		15673	0.001		0.001	False		,,,				2504	0					uc001bis.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16						c.(67-69)cGt>cAt		Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.							41	43	42					1																	24507335		2203	4300	6503	SO:0001583	missense	163702				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity	g.chr1:24507335C>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.68G>A	1.37:g.24507335C>T	ENSP00000327824:p.Arg23His					IL28RA_uc001bir.3_Missense_Mutation_p.R23H|IL28RA_uc001bit.3_Missense_Mutation_p.R23H|IL28RA_uc001biu.3_Intron|IL28RA_uc001biv.3_Missense_Mutation_p.R23H	p.R23H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	95	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	23			Fibronectin type-III.		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.68G>A	CCDS248.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.11	1.540992	0.27563	.	.	ENSG00000185436	ENST00000327535;ENST00000327575;ENST00000374421;ENST00000374418	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.32	-10.6	0.00265	Immunoglobulin-like fold (1);	3.051560	0.00531	N	0.000218	T	0.50446	0.1616	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.14012	0.009;0.004;0.004;0.003	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.38757	-0.9646	10	0.49607	T	0.09	7.6281	1.2518	0.01983	0.1833:0.2206:0.1736:0.4224	.	23;23;23;23	Q8IU57-3;Q8IV66;Q8IU57;Q8IU57-2	.;.;I28RA_HUMAN;.	H	23	ENSP00000327824:R23H;ENSP00000328994:R23H;ENSP00000363542:R23H;ENSP00000363539:R23H	ENSP00000327824:R23H	R	-	2	0	IL28RA	24379922	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-5.696000	0.00104	-2.193000	0.00754	-0.229000	0.12294	CGT		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		T	24507335	C	T	24507335	3	4	111	1	0	0	0	0	1	0	0	0	7684	536	19	1	1518	1	IL28RA	1	24507335	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		24507335	224743286	1	7512											
C1orf177	163747	broad.mit.edu	37	chr1	55273597	55273597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccggctcctacaacctcaaAgacttcttagaacagctgcg	11	8	7	15	2	2	2	1	0	1	2	3	2	3	2	3	1	5	2	3	1	5	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:55273597A>T	ENST00000371273.3	+	4	408	c.393A>T	c.(391-393)aaA>aaT	p.K131N	C1orf177_ENST00000358193.3_Missense_Mutation_p.K131N	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	131										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACAACCTCAAAGACTTCTTAG	0.547																																						uc001cyb.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(391-393)aaA>aaT		Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.							67	77	74					1																	55273597		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273597A>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.393A>T	1.37:g.55273597A>T	ENSP00000360320:p.Lys131Asn					C1orf177_uc001cya.4_Missense_Mutation_p.K131N	p.K131N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			3	447	+			131					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.393A>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526325	0.44969	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.26810	1.71;1.71	5.37	0.542	0.17174	.	0.083295	0.49916	D	0.000134	T	0.19005	0.0456	L	0.52364	1.645	0.38518	D	0.948646	B;B	0.23540	0.087;0.087	B;B	0.25759	0.063;0.063	T	0.06320	-1.0833	10	0.46703	T	0.11	-0.5244	4.1445	0.10209	0.5728:0.1746:0.2526:0.0	.	131;131	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	N	131	ENSP00000350924:K131N;ENSP00000360320:K131N	ENSP00000350924:K131N	K	+	3	2	C1orf177	55046185	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	0.646000	0.24797	0.355000	0.24131	0.459000	0.35465	AAA		0.547	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		T	55273597	A	T	55273597	3	4	111	1	0	0	0	0	1	0	0	0	2017	69	3	5	407	5	C1orf177	1	55273597	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	30766262	55273597	193977024	2	7513											
CELSR2	1952	broad.mit.edu	37	chr1	109801473	109801473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaactacatgcgctgcGtgtcggtgctgcgcttcgac	6	9	14	12	6	0	1	0	0	0	1	2	3	0	1	0	1	6	3	0	1	2	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:109801473G>A	ENST00000271332.3	+	2	3791	c.3730G>A	c.(3730-3732)Gtg>Atg	p.V1244M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1244	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGCGCTGCGTGTCGGTGCT	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.4																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3730-3732)Gtg>Atg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.							43	37	39					1																	109801473		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801473G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3730G>A	1.37:g.109801473G>A	ENSP00000271332:p.Val1244Met						p.V1244M	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3791	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1244			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3730G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425257	0.83667	.	.	ENSG00000143126	ENST00000271332	T	0.69040	-0.37	4.54	4.54	0.55810	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.70116	0.3187	M	0.75447	2.3	0.53005	D	0.999963	D	0.65815	0.995	P	0.56648	0.803	T	0.72937	-0.4140	9	0.52906	T	0.07	.	12.3354	0.55065	0.0853:0.0:0.9147:0.0	.	1244	Q9HCU4	CELR2_HUMAN	M	1244	ENSP00000271332:V1244M	ENSP00000271332:V1244M	V	+	1	0	CELSR2	109602996	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.257000	0.51500	2.521000	0.84997	0.462000	0.41574	GTG		0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109801473	G	A	109801473	3	1	111	1	0	0	0	0	1	0	0	0	3222	1145	40	1	3736	1	CELSR2	1	109801473	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	54527876	109801473	139449148	3	7514											
MOV10	4343	broad.mit.edu	37	chr1	113239252	113239252	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacctcttctgcttcccagGgctgatggaagtaaaggaaa	12	9	10	10	0	2	1	0	1	2	0	3	3	3	3	2	3	1	3	2	3	4	3	rs560631173		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:113239252G>A	ENST00000413052.2	+	14	2372	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	MOV10_ENST00000369645.1_Splice_Site_p.G661E|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Splice_Site_p.G605E|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Splice_Site_p.G661E	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	661					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGCTTCCCAGGGCTGATGGAA	0.602																																						uc001eck.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.e14-1		Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.							34	33	33					1																	113239252		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239252G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1982-1G>A	1.37:g.113239252G>A						MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Splice_Site_p.G661_splice|MOV10_uc001ecm.3_Splice_Site_p.G601_splice	p.G661_splice	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	14	2252	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	661					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1982_splice	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820060	0.90873	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	M	0.89095	3.005	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.91037	0.4868	9	.	.	.	.	18.485	0.90825	0.0:0.0:1.0:0.0	.	661	Q9HCE1	MOV10_HUMAN	E	661;661;605;661;599	ENSP00000399797:G661E;ENSP00000358659:G661E;ENSP00000358658:G605E;ENSP00000350028:G661E	.	G	+	2	0	MOV10	113040775	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.054000	0.89451	2.698000	0.92095	0.561000	0.74099	GGG		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation	A	113239252	G	A	113239252	5	1	111	1	0	0	0	0	0	0	1	0	9718	1246	43	3	2032	3	MOV10	1	113239252	Splice_Site	SNP	G	TCGA-12-0615-01A-01D-1492-08	3437779	113239252	136011369	4	7515											
TCHHL1	126637	broad.mit.edu	37	chr1	152060548	152060548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagtcagtgttgccccGttactgtcctcactggcata	6	12	9	14	1	2	0	2	0	0	0	3	0	3	0	4	1	3	3	4	1	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152060548G>A	ENST00000368806.1	-	2	136	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	24							calcium ion binding (GO:0005509)	p.N24N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473																																						uc001ezo.1																			1	Substitution - coding silent(1)	p.N24N(2)	lung(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(70-72)aaC>aaT		Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.							155	146	149					1																	152060548		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152060548G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.72C>T	1.37:g.152060548G>A							p.N24N	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		1	137	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		24					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.72C>T	CCDS30857.1																																																																																				0.473	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		A	152060548	G	A	152060548	2	1	111	1	0	0	0	0	0	0	0	1	15698	1136	40	1		1	TCHHL1	1	152060548	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	38821296	152060548	97190073	5	7516											
FLG	2312	broad.mit.edu	37	chr1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacactggatccctggCgcctgcttctcctggacccc	4	9	10	18	1	2	0	1	0	1	0	4	2	3	2	5	4	1	2	5	4	0	1	rs369659011		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152278705C>T	ENST00000368799.1	-	3	8692	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2886	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8656-8658)cGc>cAc		Homo sapiens filaggrin (FLG), mRNA.		C	HIS/ARG	0,4108		0,0,2054	92	149	131		8657	-6.8	0	1		131	1,8555		0,1,4277	no	missense	FLG	NM_002016.1	29	0,1,6331	TT,TC,CC		0.0117,0.0,0.0079	benign	2886/4062	152278705	1,12663	2054	4278	6332	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278705C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8657G>A	1.37:g.152278705C>T	ENSP00000357789:p.Arg2886His						p.R2886H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2886			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8657G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.358	-0.347234	0.05208	0.0	1.17E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01335	5.0	3.38	-6.77	0.01727	.	.	.	.	.	T	0.00328	0.0010	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51772	-0.8663	9	0.06625	T	0.88	.	3.5086	0.07700	0.1189:0.4835:0.126:0.2716	.	2886	P20930	FILA_HUMAN	H	2886;148	ENSP00000357789:R2886H	ENSP00000357786:R148H	R	-	2	0	FLG	150545329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.617000	0.00881	-2.651000	0.00424	-3.074000	0.00066	CGC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152278705	C	T	152278705	3	4	111	1	0	0	0	0	1	0	0	0	5922	768	27	1	3532	1	FLG	1	152278705	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	218157	152278705	96971916	6	7517											
KPRP	448834	broad.mit.edu	37	chr1	152733665	152733665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctactgtggcccatccaGttacaaccaggggcaagaga	11	7	10	13	0	0	1	0	0	0	1	2	2	2	1	4	3	3	2	4	3	4	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152733665G>T	ENST00000606109.1	+	1	1629	c.1601G>T	c.(1600-1602)aGt>aTt	p.S534I	KPRP_ENST00000368773.1_Missense_Mutation_p.S534I			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	534						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCATCCAGTTACAACCAG	0.582																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1600-1602)aGt>aTt		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							75	69	71					1																	152733665		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733665G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1601G>T	1.37:g.152733665G>T	ENSP00000475216:p.Ser534Ile					KPRP_uc021ozf.1_Missense_Mutation_p.S534I	p.S534I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	1659	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		534						Missense_Mutation	SNP	ENST00000606109.1	37	c.1601G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287346	0.59976	.	.	ENSG00000203786	ENST00000368773	T	0.13657	2.57	4.37	0.0985	0.14498	.	1.192230	0.06125	N	0.669489	T	0.03915	0.0110	L	0.34521	1.04	0.09310	N	1	P	0.39157	0.662	B	0.39258	0.295	T	0.40232	-0.9574	10	0.66056	D	0.02	0.1132	5.1335	0.14922	0.1901:0.3228:0.4871:0.0	.	534	Q5T749	KPRP_HUMAN	I	534	ENSP00000357762:S534I	ENSP00000357762:S534I	S	+	2	0	KPRP	151000289	0.000000	0.05858	0.001000	0.08648	0.440000	0.31957	-0.464000	0.06688	-0.056000	0.13221	0.313000	0.20887	AGT		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152733665	G	T	152733665	3	4	111	1	0	0	0	0	1	0	0	0	8436	1029	36	5	1603	5	KPRP	1	152733665	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	454960	152733665	96516956	7	7518											
DDR2	4921	broad.mit.edu	37	chr1	162749984	162749984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagatacgaagaaccGtccctcattccaagaaatcc	16	6	8	11	2	1	4	1	0	0	4	4	7	4	4	4	0	2	0	4	0	6	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:162749984G>A	ENST00000367922.3	+	19	2954	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDR2_ENST00000367921.3_Missense_Mutation_p.R839H|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ACGAAGAACCGTCCCTCATTC	0.498																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.3																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2515-2517)cGt>cAt		Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.							184	167	173					1																	162749984		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749984G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2516G>A	1.37:g.162749984G>A	ENSP00000356899:p.Arg839His					DDR2_uc001gcg.3_Missense_Mutation_p.R839H|AF268386_uc001gch.1_5'Flank	p.R839H	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		18	2981	+	all_hematologic(112;0.115)		839			Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2516G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202165	0.94997	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.98362	-4.89;-4.89	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.99740	4.74	0.41307	D	0.987087	D	0.89917	1.0	D	0.97110	1.0	D	0.97657	1.0158	9	0.87932	D	0	.	18.3244	0.90248	0.0:0.0:1.0:0.0	.	839	Q16832	DDR2_HUMAN	H	839	ENSP00000356899:R839H;ENSP00000356898:R839H	ENSP00000356898:R839H	R	+	2	0	DDR2	161016608	1.000000	0.71417	0.953000	0.39169	0.955000	0.61496	9.726000	0.98782	2.671000	0.90904	0.650000	0.86243	CGT		0.498	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		A	162749984	G	A	162749984	3	1	111	1	0	0	0	0	1	0	0	0	4337	1145	40	1	2578	1	DDR2	1	162749984	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	10016319	162749984	86500637	8	7519											
KIFAP3	22920	broad.mit.edu	37	chr1	170007466	170007466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccaagttatcaggatttCgagcaagctgcaggatcaaa	13	10	9	9	1	2	0	2	0	0	0	4	3	3	2	1	2	3	4	1	2	4	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:170007466C>T	ENST00000361580.2	-	5	709	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R117Q|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R83Q|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R121Q	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	161					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAGGATTTCGAGCAAGCTG	0.308																																						uc001ggv.3																			0		p.R161*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(481-483)cGa>cAa		Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.							89	99	95					1																	170007466		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170007466C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.482G>A	1.37:g.170007466C>T	ENSP00000354560:p.Arg161Gln					KIFAP3_uc021pep.1_Missense_Mutation_p.R121Q|KIFAP3_uc010ply.2_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.2_Missense_Mutation_p.R117Q	p.R161Q	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN			4	753	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		161					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.482G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.643244	0.96704	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.73	5.73	0.89815	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.997	T	0.61461	-0.7058	9	.	.	.	-9.9159	19.8552	0.96755	0.0:1.0:0.0:0.0	.	83;117;161	B7Z8A3;B1AKU5;Q92845	.;.;KIFA3_HUMAN	Q	161;121;117;83	ENSP00000354560:R161Q;ENSP00000356739:R121Q;ENSP00000356741:R117Q;ENSP00000444622:R83Q	.	R	-	2	0	KIFAP3	168274090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.297000	0.78799	2.861000	0.98227	0.655000	0.94253	CGA		0.308	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		T	170007466	C	T	170007466	3	4	111	1	0	0	0	0	1	0	0	0	8311	884	31	2	1960	2	KIFAP3	1	170007466	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	7257482	170007466	79243155	9	7520											
FAM5B	57795	broad.mit.edu	37	chr1	177199272	177199272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttcaccaccaggtacaGgatttataggtaagtggggg	10	10	15	6	0	1	0	1	0	0	0	1	1	1	1	2	6	1	3	2	6	4	6	rs201739935		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:177199272G>A	ENST00000361539.4	+	2	572	c.260G>A	c.(259-261)aGg>aAg	p.R87K		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	87	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											ACCAGGTACAGGATTTATAGG	0.612													G|||	1	0.000199681	0	0	5008	,	,		16228	0		0.001	False		,,,				2504	0					uc001glf.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(259-261)aGg>aAg		Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.		G	LYS/ARG	0,4402		0,0,2201	51	58	55		260	5.6	1	1		55	1,8591		0,1,4295	yes	missense	FAM5B	NM_021165.2	26	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	87/784	177199272	1,12993	2201	4296	6497	SO:0001583	missense	57795					extracellular region		g.chr1:177199272G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.260G>A	1.37:g.177199272G>A	ENSP00000354481:p.Arg87Lys						p.R87K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			1	572	+			87					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.260G>A	CCDS1320.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.152	1.016416	0.19355	0.0	1.16E-4	ENSG00000198797	ENST00000361539	D	0.81821	-1.54	5.63	5.63	0.86233	Membrane attack complex component/perforin (MACPF) domain (1);	0.060736	0.64402	D	0.000005	T	0.55049	0.1896	N	0.01289	-0.905	0.42229	D	0.991883	B	0.21071	0.051	B	0.15052	0.012	T	0.61505	-0.7049	10	0.02654	T	1	-21.7745	19.3046	0.94155	0.0:0.0:1.0:0.0	.	87	Q9C0B6	FAM5B_HUMAN	K	87	ENSP00000354481:R87K	ENSP00000354481:R87K	R	+	2	0	FAM5B	175465895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.224000	0.58593	2.652000	0.90054	0.655000	0.94253	AGG		0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		A	177199272	G	A	177199272	3	1	111	1	0	0	0	0	1	0	0	0	5593	1000	35	3	262	3	FAM5B	1	177199272	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	7191806	177199272	72051349	10	7521											
ZAP70	7535	broad.mit.edu	37	chr2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctccccctccccaggcccGctcagcagggaagtggccgc	6	5	11	19	2	2	0	1	0	1	0	4	1	3	1	6	3	1	2	6	3	1	0	rs150631046		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627																																						uc002syd.1																			0		p.A495V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1486-1488)cGc>cAc		Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78	88	85		1487,566	5.2	1	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZAP70	NM_001079.3,NM_207519.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	496/620,189/313	98354224	1,13005	2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354224G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1487G>A	2.37:g.98354224G>A	ENSP00000264972:p.Arg496His					ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	p.R496H	NM_001079	NP_997402	P43403	ZAP70_HUMAN			11	1694	+			496			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1487G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206886	0.79127	0.0	1.16E-4	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83250	-1.7;-1.7;-1.7	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.80839	0.4700	N	0.24115	0.695	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	P;D	0.62955	0.864;0.909	T	0.75371	-0.3341	10	0.15952	T	0.53	.	10.1268	0.42654	0.0915:0.0:0.9085:0.0	.	370;496	P43403-3;P43403	.;ZAP70_HUMAN	H	496;370;189	ENSP00000264972:R496H;ENSP00000411141:R370H;ENSP00000400475:R189H	ENSP00000264972:R496H	R	+	2	0	ZAP70	97720656	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.334000	0.72944	2.610000	0.88304	0.655000	0.94253	CGC		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98354224	G	A	98354224	3	1	111	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1525	1	ZAP70	2	98354224	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		98354224	144845149	11	7522											
SCN7A	6332	broad.mit.edu	37	chr2	167262324	167262324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatcttaaaagggttggcTaacaaaaaccctgattctat	14	12	8	7	0	2	2	0	2	2	0	2	2	2	2	1	2	2	2	1	2	6	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:167262324T>C	ENST00000409855.1	-	25	4941	c.4815A>G	c.(4813-4815)ttA>ttG	p.L1605L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1605					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGGGTTGGCTAACAAAAACC	0.368																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4813-4815)ttA>ttG		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							154	150	152					2																	167262324		1869	4109	5978	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262324T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4815A>G	2.37:g.167262324T>C						SCN7A_uc010fpm.2_Non-coding_Transcript	p.L1605L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	4945	-			1605						Silent	SNP	ENST00000409855.1	37	c.4815A>G	CCDS46442.1																																																																																				0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			C	167262324	T	C	167262324	2	2	111	1	0	0	0	0	0	0	0	1	13923	1519	53	4		4	SCN7A	2	167262324	Silent	SNP	T	TCGA-12-0615-01A-01D-1492-08	68908100	167262324	75937049	12	7523											
DNAH7	56171	broad.mit.edu	37	chr2	196741332	196741332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccaattttgacatgacaAtattctgagtttgagctgct	10	16	8	7	0	1	4	0	4	1	0	2	4	2	4	1	0	2	3	1	0	3	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:196741332A>G	ENST00000312428.6	-	37	6153	c.6053T>C	c.(6052-6054)aTt>aCt	p.I2018T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2018	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACATGACAATATTCTGAGT	0.363																																						uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6052-6054)aTt>aCt		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							154	139	143					2																	196741332		1846	4085	5931	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196741332A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6053T>C	2.37:g.196741332A>G	ENSP00000311273:p.Ile2018Thr						p.I2018T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			36	6154	-			2018			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6053T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273580	0.80580	.	.	ENSG00000118997	ENST00000312428	T	0.37584	1.19	5.39	5.39	0.77823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.49455	1.56	0.80722	D	1	D	0.56746	0.977	D	0.67382	0.951	T	0.38845	-0.9642	10	0.24483	T	0.36	.	15.2338	0.73413	1.0:0.0:0.0:0.0	.	2018	Q8WXX0	DYH7_HUMAN	T	2018	ENSP00000311273:I2018T	ENSP00000311273:I2018T	I	-	2	0	DNAH7	196449577	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	8.784000	0.91818	2.270000	0.75569	0.477000	0.44152	ATT		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196741332	A	G	196741332	3	3	111	1	0	0	0	0	1	0	0	0	4606	101	4	4	6137	4	DNAH7	2	196741332	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	29479008	196741332	46458041	13	7524											
AAMP	14	broad.mit.edu	37	chr2	219131281	219131281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagctgtgcccgccaacagGacaggtgcccgaggatgcca	9	5	13	14	2	1	0	1	0	0	0	1	3	1	2	4	3	5	1	4	3	1	0			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:219131281G>A	ENST00000248450.4	-	5	734	c.564C>T	c.(562-564)gtC>gtT	p.V188V	AAMP_ENST00000420660.1_Silent_p.V169V|AAMP_ENST00000444053.1_Silent_p.V189V			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	188					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCAACAGGACAGGTGCCC	0.642																																						uc002vhl.3																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(565-567)gtC>gtT		Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.							45	42	43					2																	219131281		2203	4300	6503	SO:0001819	synonymous_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219131281G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.564C>T	2.37:g.219131281G>A						AAMP_uc002vhk.3_Silent_p.V188V	p.V189V	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	651	-		Renal(207;0.0474)	188					Q8WUJ9|Q96H92	Silent	SNP	ENST00000248450.4	37	c.567C>T	CCDS33378.1																																																																																				0.642	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		A	219131281	G	A	219131281	2	1	111	1	0	0	0	0	0	0	0	1	17	1161	41	3		3	AAMP	2	219131281	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	22389949	219131281	24068092	14	7525											
SHISA5	51246	broad.mit.edu	37	chr3	48538580	48538580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcacccacctggcctcagGcacagcacacctttcctcgc	7	7	8	19	1	1	0	1	0	0	0	3	0	2	0	5	2	2	3	5	2	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:48538580G>A	ENST00000296444.2	-	2	559	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SHISA5_ENST00000444115.1_Missense_Mutation_p.P44S|SHISA5_ENST00000443308.2_Intron|SHISA5_ENST00000442747.1_Missense_Mutation_p.P44S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	75					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						CTGGCCTCAGGCACAGCACAC	0.572																																						uc003ctp.1																			0				large_intestine(1)|lung(1)	2						c.(223-225)Cct>Tct		Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.							118	95	103					3																	48538580		2202	4300	6502	SO:0001583	missense	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48538580G>A	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"Shisa homologs"	30376	protein-coding gene	gene with protein product		607290	"shisa homolog 5 (Xenopus laevis)"			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.223C>T	3.37:g.48538580G>A	ENSP00000296444:p.Pro75Ser					SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S	p.P75S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			1	357	-			75					B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Missense_Mutation	SNP	ENST00000296444.2	37	c.223C>T	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171621	0.57584	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000442747;ENST00000417841	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.02	-1.34	0.09143	.	1.031570	0.07710	N	0.941887	T	0.31734	0.0806	L	0.51422	1.61	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.29610	-1.0006	10	0.25106	T	0.35	-24.5683	3.706	0.08401	0.2011:0.0:0.3026:0.4962	.	75	Q8N114	SHSA5_HUMAN	S	75;44;44;44	ENSP00000296444:P75S;ENSP00000407957:P44S;ENSP00000408223:P44S;ENSP00000412509:P44S	ENSP00000296444:P75S	P	-	1	0	SHISA5	48513584	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-0.092000	0.11129	-0.283000	0.09115	0.650000	0.86243	CCT		0.572	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		A	48538580	G	A	48538580	3	1	111	1	0	0	0	0	1	0	0	0	14283	1203	42	3	519	3	SHISA5	3	48538580	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		48538580	149483850	15	7526											
ERC2	26059	broad.mit.edu	37	chr3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggagaccttggcaaaCgaggggatctggaagggcta	13	5	16	7	2	1	1	0	0	1	1	1	6	1	3	1	6	2	2	1	6	4	2	rs200184138		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:56468977C>T	ENST00000288221.6	-	2	314	c.59G>A	c.(58-60)cGt>cAt	p.R20H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	20						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R20H(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													C|||	1	0.000199681	0	0	5008	,	,		17910	0.001		0	False		,,,				2504	0					uc021wzo.1																			2	Substitution - Missense(2)	p.R20H(3)	breast(2)	breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(58-60)cGt>cAt		Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.		C	HIS/ARG	1,3825		0,1,1912	98	94	95		59	5.5	1	3		95	1,8245		0,1,4122	no	missense	ERC2	NM_015576.1	29	0,2,6034	TT,TC,CC		0.0121,0.0261,0.0166	probably-damaging	20/958	56468977	2,12070	1913	4123	6036	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468977C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.59G>A	3.37:g.56468977C>T	ENSP00000288221:p.Arg20His					ERC2_uc003dhr.1_Missense_Mutation_p.R20H	p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	0	199	-			20					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.59G>A	CCDS46851.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.8	4.954224	0.92726	2.61E-4	1.21E-4	ENSG00000187672	ENST00000288221	T	0.57273	0.41	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70208	-0.4935	10	0.87932	D	0	-13.9449	19.6793	0.95956	0.0:1.0:0.0:0.0	.	20	O15083	ERC2_HUMAN	H	20	ENSP00000288221:R20H	ENSP00000288221:R20H	R	-	2	0	ERC2	56444017	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.744000	0.85034	2.713000	0.92767	0.655000	0.94253	CGT		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56468977	C	T	56468977	3	4	111	1	0	0	0	0	1	0	0	0	5211	536	19	1	2868	1	ERC2	3	56468977	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	7930397	56468977	141553453	16	7527											
FAM19A1	407738	broad.mit.edu	37	chr3	68055847	68055847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctactctgccatggatcCcttcagcacactttccagca	9	11	6	15	0	2	0	1	0	1	0	4	1	4	1	3	1	5	3	3	1	1	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:68055847C>T	ENST00000478136.1	+	2	568	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_ENST00000496687.1_Silent_p.S26S	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	26						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502																																						uc003dnd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7						c.(76-78)tcC>tcT		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.							215	209	211					3																	68055847		2105	4237	6342	SO:0001819	synonymous_variant	407738					endoplasmic reticulum|extracellular region		g.chr3:68055847C>T	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.78C>T	3.37:g.68055847C>T						FAM19A1_uc003dne.3_Silent_p.S26S|FAM19A1_uc003dng.3_Silent_p.S26S|FAM19A1_uc003dnf.1_Non-coding_Transcript	p.S26S	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	1	294	+		Lung NSC(201;0.0117)	26					A8K0V3|Q8TCL8	Silent	SNP	ENST00000478136.1	37	c.78C>T	CCDS54606.1																																																																																				0.502	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		T	68055847	C	T	68055847	2	4	111	1	0	0	0	0	0	0	0	1	5531	610	22	3		3	FAM19A1	3	68055847	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	11586870	68055847	129966583	17	7528											
CNTN3	5067	broad.mit.edu	37	chr3	74316462	74316462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccatggctttaacttgCtcccaattaagtaacacttt	10	16	4	11	0	1	0	0	0	1	0	3	0	2	0	2	1	3	3	2	1	4	7			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:74316462C>A	ENST00000263665.6	-	20	2799	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	924	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTAACTTGCTCCCAATTAA	0.358																																						uc003dpm.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2770-2772)gaG>gaT		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.							165	161	162					3																	74316462		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74316462C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2772G>T	3.37:g.74316462C>A	ENSP00000263665:p.Glu924Asp						p.E924D	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2852	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	924			Fibronectin type-III 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2772G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558520	0.03967	.	.	ENSG00000113805	ENST00000263665	T	0.44482	0.92	5.32	-6.98	0.01611	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052608	0.85682	D	0.000000	T	0.18759	0.0450	N	0.24115	0.695	0.30869	N	0.732691	B	0.02656	0.0	B	0.09377	0.004	T	0.43343	-0.9397	10	0.02654	T	1	.	13.1612	0.59544	0.0:0.2581:0.0818:0.66	.	924	Q9P232	CNTN3_HUMAN	D	924	ENSP00000263665:E924D	ENSP00000263665:E924D	E	-	3	2	CNTN3	74399152	0.000000	0.05858	0.824000	0.32777	0.987000	0.75469	-3.300000	0.00521	-1.405000	0.02048	-0.768000	0.03414	GAG		0.358	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		A	74316462	C	A	74316462	3	1	111	1	0	0	0	0	1	0	0	0	3642	796	28	5	326	5	CNTN3	3	74316462	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	6260615	74316462	123705968	18	7529											
LEPREL1	55214	broad.mit.edu	37	chr3	189700930	189700930	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcactcctgaagggaccCtgcccattcaaaaaatttaa	13	10	6	12	1	2	1	2	1	0	0	3	2	3	2	3	1	1	1	3	1	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:189700930C>T	ENST00000319332.5	-	8	1427		c.e8-1		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGGGACCCTGCCCATTCA	0.393																																						uc011bsk.2																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.e8-1		Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						138	134	136					3																	189700930		2203	4300	6503	SO:0001630	splice_region_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189700930C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1230-1G>A	3.37:g.189700930C>T						LEPREL1_uc003fsg.3_Splice_Site_p.R229_splice	p.R410_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	8	1618	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		410					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Splice_Site	SNP	ENST00000319332.5	37	c.1230_splice	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605505	0.66445	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7955	0.88568	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEPREL1	191183624	0.998000	0.40836	0.986000	0.45419	0.906000	0.53458	4.689000	0.61723	2.622000	0.88805	0.637000	0.83480	.		0.393	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	Intron	T	189700930	C	T	189700930	5	4	111	1	0	0	0	0	0	0	1	0	8730	695	24	3	929	3	LEPREL1	3	189700930	Splice_Site	SNP	C	TCGA-12-0615-01A-01D-1492-08	115384468	189700930	8321500	19	7530											
WDR1	9948	broad.mit.edu	37	chr4	10086069	10086070	+	Frame_Shift_Ins	INS	-	-	T																															tttgagtcaaaggatattaaINStgtgtccgtcgtggctccca																										TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:10086069_10086070insT	ENST00000499869.2	-	9	1229_1230	c.1036_1037insA	c.(1036-1038)attfs	p.I346fs	WDR1_ENST00000382451.2_Frame_Shift_Ins_p.I206fs|WDR1_ENST00000502702.1_Frame_Shift_Ins_p.I206fs|WDR1_ENST00000382452.2_Frame_Shift_Ins_p.I346fs|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	346					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGGATATTAATGTGTCCGTCG	0.55																																						uc021xlv.1																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1036-1038)attfs		Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10086069_10086070insT	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1037dupA	4.37:g.10086070_10086070dupT	ENSP00000427687:p.Ile346fs					WDR1_uc021xlw.1_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.2_Non-coding_Transcript|WDR1_uc021xly.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.3_5'Flank	p.I346fs	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	8	1319_1320	-			346					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Ins	INS	ENST00000499869.2	37	c.1036_1037insA	CCDS54740.1																																																																																				0.55	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			T	10086070	-	T	10086069	7	5	111	1	0	1	1	0	0	0	0	0	17269	101	4	0	811	0	WDR1	4	10086069	Frame_Shift_Ins	INS	-	TCGA-12-0615-01A-01D-1492-08		10086069	181068207	20	7531											
FRYL	285527	broad.mit.edu	37	chr4	48622786	48622786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctactgagctcatagAgcttatcaactgaaaacaca	14	10	6	11	0	3	3	2	2	1	1	3	3	3	3	0	0	6	3	0	0	6	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:48622786A>C	ENST00000503238.1	-	3	183	c.184T>G	c.(184-186)Tct>Gct	p.S62A	FRYL_ENST00000358350.4_Missense_Mutation_p.S62A|FRYL_ENST00000507711.1_Missense_Mutation_p.S62A|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.S62A			O94915	FRYL_HUMAN	FRY-like	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGCTCATAGAGCTTATCAAC	0.363																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(184-186)Tct>Gct		Homo sapiens FRY-like (FRYL), mRNA.							108	101	103					4																	48622786		1876	4103	5979	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48622786A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.184T>G	4.37:g.48622786A>C	ENSP00000426064:p.Ser62Ala					FRYL_uc003gyk.3_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	p.S62A	NM_015030	NP_055845	O94915	FRYL_HUMAN			5	789	-			62					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.184T>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239568	0.79800	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	T;T;T;T	0.61274	0.12;0.12;0.12;0.78	5.91	5.91	0.95273	.	0.000000	0.64402	U	0.000002	T	0.48205	0.1487	N	0.11673	0.155	0.80722	D	1	D;P;B	0.59357	0.985;0.841;0.415	P;P;B	0.53593	0.73;0.661;0.133	T	0.44128	-0.9348	10	0.07813	T	0.8	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	113;62;62	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	A	62;62;62;62;154	ENSP00000426064:S62A;ENSP00000351113:S62A;ENSP00000441114:S62A;ENSP00000421584:S62A	ENSP00000351113:S62A	S	-	1	0	FRYL	48317543	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.356000	0.79445	2.263000	0.75096	0.377000	0.23210	TCT		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			C	48622786	A	C	48622786	3	2	111	1	0	0	0	0	1	0	0	0	6064	304	11	5	9093	5	FRYL	4	48622786	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	38536717	48622786	142531490	21	7532											
SFRP2	6423	broad.mit.edu	37	chr4	154702675	154702675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctgccaccgcttcacCgaggtgatcaccagctcccc	6	8	7	20	2	3	1	2	1	1	0	4	2	4	1	7	1	2	2	7	1	0	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:154702675C>T	ENST00000274063.4	-	3	1100	c.816G>A	c.(814-816)tcG>tcA	p.S272S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	272	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S272S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592																																						uc003inv.1																			1	Substitution - coding silent(1)	p.S272S(2)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(814-816)tcG>tcA		Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.							133	101	111					4																	154702675		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702675C>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.816G>A	4.37:g.154702675C>T							p.S272S	NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN			2	1057	-	all_hematologic(180;0.093)	Renal(120;0.117)	272			NTR.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.816G>A	CCDS34082.1																																																																																				0.592	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			T	154702675	C	T	154702675	2	4	111	1	0	0	0	0	0	0	0	1	14162	639	23	2		2	SFRP2	4	154702675	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	106079889	154702675	36451601	22	7533											
VCAN	1462	broad.mit.edu	37	chr5	82815367	82815367	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacagtccaacctcaggcTatcacagatagtttagccac	12	8	7	14	0	2	1	2	0	0	1	3	1	3	1	4	1	2	2	4	1	4	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:82815367T>C	ENST00000265077.3	+	7	1807	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	VCAN_ENST00000342785.4_Silent_p.A414A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.A366A|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	414	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACCTCAGGCTATCACAGATA	0.463																																						uc003kii.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1240-1242)gcT>gcC		Homo sapiens versican (VCAN), transcript variant 1, mRNA.							101	101	101					5																	82815367		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815367T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1242T>C	5.37:g.82815367T>C						VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	p.A414A	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1598	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	414			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1242T>C	CCDS4060.1																																																																																				0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82815367	T	C	82815367	2	2	111	1	0	0	0	0	0	0	0	1	17135	1509	53	4		4	VCAN	5	82815367	Silent	SNP	T	TCGA-12-0615-01A-01D-1492-08		82815367	98099893	23	7534											
TRIM7	81786	broad.mit.edu	37	chr5	180622296	180622296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaaggacacggctcccAcctccaggtccagggccacc	9	4	11	17	2	0	1	0	0	0	1	3	2	3	2	6	4	0	2	6	4	2	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:180622296A>G	ENST00000274773.7	-	7	1467	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	TRIM7_ENST00000361809.3_Missense_Mutation_p.V261A|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393315.1_Missense_Mutation_p.V261A|TRIM7_ENST00000422067.2_Missense_Mutation_p.V261A|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.V287A|CTC-338M12.6_ENST00000502812.2_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	469	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACGGCTCCCACCTCCAGGTC	0.672																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(1405-1407)gTg>gCg		Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.							41	26	31					5																	180622296		2194	4298	6492	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622296A>G	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1406T>C	5.37:g.180622296A>G	ENSP00000274773:p.Val469Ala					TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A	p.V469A	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	6	1473	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	469			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.1406T>C	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	A	3.580	-0.085764	0.07097	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.07	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.257885	0.26959	N	0.021624	T	0.17066	0.0410	N	0.00073	-2.26	0.26685	N	0.971465	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.003	T	0.44528	-0.9322	10	0.02654	T	1	.	2.2632	0.04072	0.6044:0.0:0.1513:0.2443	.	469;287	Q9C029;Q9C029-4	TRIM7_HUMAN;.	A	469;261;261;287;261	ENSP00000274773:V469A;ENSP00000376991:V261A;ENSP00000355059:V261A;ENSP00000376994:V287A;ENSP00000391458:V261A	ENSP00000274773:V469A	V	-	2	0	TRIM7	180554902	0.000000	0.05858	1.000000	0.80357	0.916000	0.54674	-0.049000	0.11924	1.904000	0.55121	0.391000	0.25812	GTG		0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		G	180622296	A	G	180622296	3	3	111	1	0	0	0	0	1	0	0	0	16540	159	6	4	133	4	TRIM7	5	180622296	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	97806929	180622296	292964	24	7535											
ANKS1A	23294	broad.mit.edu	37	chr6	34935028	34935028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgatagcatgtggagaggGccaaatgtgaactgtgttga	11	10	14	6	0	0	4	0	3	0	1	0	5	0	4	2	2	2	2	2	2	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:34935028G>A	ENST00000360359.3	+	2	348	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_ENST00000535627.1_Silent_p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	70					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423																																						uc003ojx.4																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(208-210)ggG>ggA		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.							212	186	195					6																	34935028		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34935028G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.210G>A	6.37:g.34935028G>A						ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_5'Flank	p.G70G	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			1	352	+			70					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.210G>A	CCDS4798.1																																																																																				0.423	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	34935028	G	A	34935028	2	1	111	1	0	0	0	0	0	0	0	1	688	1190	42	3		3	ANKS1A	6	34935028	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08		34935028	136180039	25	7536											
GLP1R	2740	broad.mit.edu	37	chr6	39033981	39033981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccacagagctccccGgaggagcagctcctgttcct	6	8	12	15	2	0	1	0	0	0	1	3	3	3	3	5	2	4	4	5	2	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:39033981G>A	ENST00000373256.4	+	5	454	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	137				P -> R (in Ref. 4; no nucleotide entry). {ECO:0000305}.|SP -> WG (in Ref. 1; AAA03614). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGAGCTCCCCGGAGGAGCAGC	0.597																																						uc003ooj.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(409-411)ccG>ccA		Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	Exenatide(DB01276)|Glucagon recombinant(DB00040)						126	93	104					6																	39033981		2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39033981G>A		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.411G>A	6.37:g.39033981G>A						GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	p.P137P	NM_002062	NP_002053	P43220	GLP1R_HUMAN			4	471	+			137	P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).				Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.411G>A	CCDS4839.1																																																																																				0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			A	39033981	G	A	39033981	2	1	111	1	0	0	0	0	0	0	0	1	6452	1103	39	2		2	GLP1R	6	39033981	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	4098953	39033981	132081086	26	7537											
RNF217	154214	broad.mit.edu	37	chr6	125379096	125379096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttacacagatccagtgCcctacctgccaattcgtctg	8	13	6	14	1	2	1	0	0	2	1	4	1	3	1	4	0	4	0	4	0	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:125379096C>T	ENST00000521654.2	+	3	1125	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Silent_p.C83C|RNF217_ENST00000560949.1_Silent_p.C140C|RNF217_ENST00000275184.6_Silent_p.C19C			Q8TC41	RN217_HUMAN	ring finger protein 217	375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCAGTGCCCTACCTGCC	0.388																																						uc003pzr.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(418-420)tgC>tgT		Homo sapiens ring finger protein 217 (RNF217), mRNA.							120	115	117					6																	125379096		2203	4300	6503	SO:0001819	synonymous_variant	154214				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr6:125379096C>T	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1125C>T	6.37:g.125379096C>T						RNF217_uc003pzs.3_Silent_p.C83C|RNF217_uc003pzt.3_Non-coding_Transcript	p.C140C			Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	2	954	+			83					H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37	c.420C>T																																																																																					0.388	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		T	125379096	C	T	125379096	2	4	111	1	0	0	0	0	0	0	0	1	13481	747	26	3		3	RNF217	6	125379096	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	86345115	125379096	45735971	27	7538											
HECA	51696	broad.mit.edu	37	chr6	139495543	139495543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagactcatgcatctgtatgCcgtgtgcgtggactgcctgg	6	11	14	10	2	2	1	1	0	1	1	2	3	2	2	2	2	4	2	2	2	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:139495543C>T	ENST00000367658.2	+	3	1619	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	445					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGTATGCCGTGTGCGTG	0.502																																						uc003qin.3																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1333-1335)gCc>gTc		Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.							165	146	152					6																	139495543		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139495543C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1334C>T	6.37:g.139495543C>T	ENSP00000356630:p.Ala445Val						p.A445V	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1619	+			445						Missense_Mutation	SNP	ENST00000367658.2	37	c.1334C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168675	0.94768	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.75602	-0.3261	9	0.72032	D	0.01	.	20.0544	0.97645	0.0:1.0:0.0:0.0	.	445	Q9UBI9	HDC_HUMAN	V	445	.	ENSP00000356630:A445V	A	+	2	0	HECA	139537236	1.000000	0.71417	0.505000	0.27651	0.815000	0.46073	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	GCC		0.502	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		T	139495543	C	T	139495543	3	4	111	1	0	0	0	0	1	0	0	0	7038	739	26	3	1344	3	HECA	6	139495543	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	14116447	139495543	31619524	28	7539											
SEPT14	346288	broad.mit.edu	37	chr7	55874801	55874801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctaactggctggttgtttGgacccacatctgtaaagccc	9	11	9	12	0	1	0	0	0	1	0	1	1	1	1	3	3	2	4	3	3	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:55874801G>C	ENST00000388975.3	-	8	1084	c.968C>G	c.(967-969)cCa>cGa	p.P323R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	323					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTTGTTTGGACCCACATC	0.368																																						uc003tqz.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(967-969)cCa>cGa		Homo sapiens septin 14 (SEPT14), mRNA.							109	101	104					7																	55874801		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874801G>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.968C>G	7.37:g.55874801G>C	ENSP00000373627:p.Pro323Arg						p.P323R	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	1085	-	Breast(14;0.214)		323					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.968C>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073553	0.55646	.	.	ENSG00000154997	ENST00000388975	D	0.82081	-1.57	3.24	3.24	0.37175	.	0.099661	0.43110	D	0.000604	D	0.87645	0.6229	M	0.62723	1.935	0.45439	D	0.998416	D	0.71674	0.998	D	0.67382	0.951	D	0.86841	0.2017	10	0.40728	T	0.16	.	12.756	0.57335	0.0:0.0:1.0:0.0	.	323	Q6ZU15	SEP14_HUMAN	R	323	ENSP00000373627:P323R	ENSP00000373627:P323R	P	-	2	0	SEPT14	55842295	1.000000	0.71417	0.711000	0.30485	0.903000	0.53119	7.492000	0.81482	2.116000	0.64780	0.557000	0.71058	CCA		0.368	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		C	55874801	G	C	55874801	3	2	111	1	0	0	0	0	1	0	0	0	14063	1348	47	5	342	5	SEPT14	7	55874801	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		55874801	103263862	29	7540											
TRIM4	89122	broad.mit.edu	37	chr7	99507253	99507253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttcttcatcttggccaCgagattacgctgagacttaa	10	13	8	10	2	3	2	1	1	2	2	3	5	3	2	1	1	1	1	1	1	2	5	rs373018289		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:99507253C>T	ENST00000355947.2	-	3	631	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	TRIM4_ENST00000354241.5_Missense_Mutation_p.V142M|TRIM4_ENST00000349062.2_Missense_Mutation_p.V142M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	168					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATCTTGGCCACGAGATTACGC	0.418																																						uc003usd.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(502-504)Gtg>Atg		Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.		C	MET/VAL,MET/VAL	0,4406		0,0,2203	205	165	179		424,502	-3	0	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRIM4	NM_033091.2,NM_033017.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	142/475,168/501	99507253	1,13005	2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99507253C>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.502G>A	7.37:g.99507253C>T	ENSP00000348216:p.Val168Met					TRIM4_uc003use.3_Missense_Mutation_p.V142M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.V142M	p.V168M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			2	701	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	168					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.502G>A	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.173|7.173	0.588017|0.588017	0.13812|0.13812	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000354241	.|T;T;T	.|0.68479	.|-0.22;-0.18;-0.33	2.55|2.55	-3.03|-3.03	0.05429|0.05429	.|.	.|.	.|.	.|.	.|.	T|T	0.31040|0.31040	0.0784|0.0784	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17465	.|0.022;0.021;0.012	.|B;B;B	.|0.19946	.|0.027;0.003;0.001	T|T	0.15665|0.15665	-1.0429|-1.0429	5|9	.|0.44086	.|T	.|0.13	.|.	3.4531|3.4531	0.07506|0.07506	0.2092:0.4412:0.0:0.3496|0.2092:0.4412:0.0:0.3496	.|.	.|142;142;168	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	H|M	43|168;142;142	.|ENSP00000348216:V168M;ENSP00000275736:V142M;ENSP00000346186:V142M	.|ENSP00000275736:V142M	R|V	-|-	2|1	0|0	TRIM4|TRIM4	99345189|99345189	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.136000|-0.136000	0.10405|0.10405	-0.738000|-0.738000	0.04817|0.04817	-0.484000|-0.484000	0.04775|0.04775	CGT|GTG		0.418	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		T	99507253	C	T	99507253	3	4	111	1	0	0	0	0	1	0	0	0	16511	536	19	1	1020	1	TRIM4	7	99507253	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	43632452	99507253	59631410	30	7541											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138447096	138447096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactaaccccaactttccGgtcatatatgcaggcactgc	11	10	6	14	1	1	0	1	0	0	0	2	0	2	0	3	2	5	2	3	2	5	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:138447096G>A	ENST00000310018.2	-	7	783	c.501C>T	c.(499-501)acC>acT	p.T167T	ATP6V0A4_ENST00000353492.4_Silent_p.T167T|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.T167T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	167					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAACTTTCCGGTCATATATG	0.458																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(499-501)acC>acT		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							128	115	120					7																	138447096		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138447096G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.501C>T	7.37:g.138447096G>A						ATP6V0A4_uc003vug.3_Silent_p.T167T|ATP6V0A4_uc003vuh.3_Silent_p.T167T	p.T167T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			5	739	-			167					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.501C>T	CCDS5849.1																																																																																				0.458	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138447096	G	A	138447096	2	1	111	1	0	0	0	0	0	0	0	1	1170	1103	39	2		2	ATP6V0A4	7	138447096	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	38939843	138447096	20691567	31	7542											
SGK223	157285	broad.mit.edu	37	chr8	8239066	8239066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggcggcagttctcAggcctgggaggcaggcgcgg	5	7	17	12	3	2	0	1	0	2	0	4	1	3	1	2	7	0	3	2	7	0	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:8239066A>G	ENST00000520004.1	-	2	456	c.192T>C	c.(190-192)ccT>ccC	p.P64P	SGK223_ENST00000330777.4_Silent_p.P64P			Q86YV5	SG223_HUMAN		64							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGCAGTTCTCAGGCCTGGGAG	0.652																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(190-192)ccT>ccC		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							51	51	51					8																	8239066		2005	4158	6163	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8239066A>G																												ENST00000520004.1:c.192T>C	8.37:g.8239066A>G							p.P64P	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			0	192	-			64					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.192T>C	CCDS43706.1																																																																																				0.652	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			G	8239066	A	G	8239066	2	3	111	1	0	0	0	0	0	0	0	1	14210	175	7	4		4	SGK223	8	8239066	Silent	SNP	A	TCGA-12-0615-01A-01D-1492-08		8239066	138124956	32	7543											
VCPIP1	80124	broad.mit.edu	37	chr8	67546807	67546807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccatctcttcaagctcctCcacggaatttcccctttgtg	7	14	5	15	1	2	0	1	0	1	0	7	1	6	1	5	1	1	1	5	1	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:67546807C>A	ENST00000310421.4	-	3	3856	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1200					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCAAGCTCCTCCACGGAATTT	0.428																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.3																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(3598-3600)Gag>Tag		Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.							187	156	167					8																	67546807		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67546807C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3598G>T	8.37:g.67546807C>A	ENSP00000309031:p.Glu1200*						p.E1200*	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		2	3857	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1200					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.3598G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	42	9.226118	0.99106	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.59	5.59	0.84812	.	0.064498	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6145	19.58	0.95464	0.0:1.0:0.0:0.0	.	.	.	.	X	1200	.	ENSP00000309031:E1200X	E	-	1	0	VCPIP1	67709361	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.981000	0.76166	2.625000	0.88918	0.591000	0.81541	GAG		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67546807	C	A	67546807	4	1	111	1	0	0	0	0	0	1	0	0	17138	864	30	5	74	5	VCPIP1	8	67546807	Nonsense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	59307741	67546807	78817215	33	7544											
SLC25A32	81034	broad.mit.edu	37	chr8	104412724	104412724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagcaggctggagtcactCtaatcaaattaggagcaatt	14	10	9	8	0	3	0	2	0	1	0	3	2	3	2	0	3	3	3	0	3	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:104412724C>G	ENST00000297578.4	-	7	1029	c.863G>C	c.(862-864)aGa>aCa	p.R288T	SLC25A32_ENST00000523701.1_5'Flank|SLC25A32_ENST00000543107.1_Missense_Mutation_p.R156T	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	288					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGGAGTCACTCTAATCAAATT	0.368																																						uc003yll.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(862-864)aGa>aCa		Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	Folic Acid(DB00158)						121	126	125					8																	104412724		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104412724C>G	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.863G>C	8.37:g.104412724C>G	ENSP00000297578:p.Arg288Thr					SLC25A32_uc011lhr.2_Missense_Mutation_p.R156T	p.R288T	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		6	1166	-			288					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.863G>C	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106948	0.77096	.	.	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	D;D	0.81739	-1.53;-1.53	5.66	3.82	0.43975	Mitochondrial carrier domain (2);	0.045131	0.85682	D	0.000000	D	0.87724	0.6249	M	0.90198	3.095	0.80722	D	1	P	0.37441	0.595	P	0.48738	0.588	D	0.89155	0.3526	10	0.72032	D	0.01	-15.7796	11.5239	0.50569	0.0:0.8073:0.1249:0.0678	.	288	Q9H2D1	MFTC_HUMAN	T	288;272;156	ENSP00000297578:R288T;ENSP00000443497:R156T	ENSP00000297578:R288T	R	-	2	0	SLC25A32	104481900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.579000	0.60936	1.403000	0.46800	0.655000	0.94253	AGA		0.368	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		G	104412724	C	G	104412724	3	3	111	1	0	0	0	0	1	0	0	0	14496	913	32	5	88	5	SLC25A32	8	104412724	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	36865917	104412724	41951298	34	7545											
RECK	8434	broad.mit.edu	37	chr9	36060144	36060144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaattgtatgaattcatCtttgccaggtaagcaataaa	14	14	8	5	0	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	7	7			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:36060144C>G	ENST00000377966.3	+	4	829	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	88	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGAATTCATCTTTGCCAGGT	0.299																																						uc003zyv.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(262-264)tCt>tGt		Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.							116	124	121					9																	36060144		2203	4299	6502	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36060144C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.263C>G	9.37:g.36060144C>G	ENSP00000367202:p.Ser88Cys					RECK_uc003zyu.4_Missense_Mutation_p.S88C|RECK_uc003zyw.3_5'UTR|RECK_uc010mle.1_Intron|RECK_uc003zyx.3_Non-coding_Transcript	p.S88C	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		3	349	+			88			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.263C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415378	0.83449	.	.	ENSG00000122707	ENST00000377966	T	0.48522	0.81	5.78	5.78	0.91487	.	0.062472	0.64402	D	0.000003	T	0.54224	0.1845	N	0.14661	0.345	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.79108	0.99;0.981;0.992	T	0.60167	-0.7316	10	0.87932	D	0	-22.4448	17.8645	0.88792	0.0:1.0:0.0:0.0	.	88;88;88	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	C	88	ENSP00000367202:S88C	ENSP00000367202:S88C	S	+	2	0	RECK	36050144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	TCT		0.299	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			G	36060144	C	G	36060144	3	3	111	1	0	0	0	0	1	0	0	0	13200	913	32	5	277	5	RECK	9	36060144	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		36060144	105153287	35	7546											
TMEM2	23670	broad.mit.edu	37	chr9	74345061	74345061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcggtgggcaggagagtacCcggcttggtgaggagtccca	8	7	17	9	2	0	2	0	1	0	1	2	4	1	3	2	6	1	3	2	6	1	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:74345061C>T	ENST00000377044.4	-	9	2421	c.1882G>A	c.(1882-1884)Ggt>Agt	p.G628S	TMEM2_ENST00000377066.5_Missense_Mutation_p.G565S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	628					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGAGTACCCGGCTTGGTG	0.458																																						uc011lsa.1																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1882-1884)Ggt>Agt		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							141	127	132					9																	74345061		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74345061C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1882G>A	9.37:g.74345061C>T	ENSP00000366243:p.Gly628Ser					TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_Non-coding_Transcript	p.G628S	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	8	2422	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	628					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1882G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504750	0.96371	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.88664	-2.41;-2.41	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.046617	0.85682	D	0.000000	D	0.92257	0.7544	L	0.52126	1.63	0.80722	D	1	P;D	0.69078	0.942;0.997	P;D	0.67231	0.749;0.95	D	0.89198	0.3555	10	0.20519	T	0.43	.	19.6697	0.95907	0.0:1.0:0.0:0.0	.	628;565	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	S	628;565	ENSP00000366243:G628S;ENSP00000366266:G565S	ENSP00000366243:G628S	G	-	1	0	TMEM2	73534881	1.000000	0.71417	0.936000	0.37596	0.916000	0.54674	5.672000	0.68102	2.649000	0.89929	0.585000	0.79938	GGT		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74345061	C	T	74345061	3	4	111	1	0	0	0	0	1	0	0	0	16118	623	22	3	2333	3	TMEM2	9	74345061	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	38284917	74345061	66868370	36	7547											
WNK2	65268	broad.mit.edu	37	chr9	96030055	96030055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgactttatcctgcaggccGagcgggaaacgttcatcgag	10	9	12	10	4	1	1	1	1	0	0	3	4	2	2	2	2	3	2	2	2	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:96030055G>A	ENST00000297954.4	+	16	3724	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	WNK2_ENST00000427277.2_Missense_Mutation_p.E854K|WNK2_ENST00000349097.3_Missense_Mutation_p.E854K|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.E1242K|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1242					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGCAGGCCGAGCGGGAAAC	0.577																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(3724-3726)Gag>Aag		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							46	35	39					9																	96030055		2203	4299	6502	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96030055G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3724G>A	9.37:g.96030055G>A	ENSP00000297954:p.Glu1242Lys					WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.3_Missense_Mutation_p.E1242K|WNK2_uc004atk.3_Missense_Mutation_p.E879K	p.E1242K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			15	3724	+			1242					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3724G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.035713|6.035713	0.97221|0.97221	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.994;0.996;0.998;0.981|.	T|T	0.81417|0.81417	-0.0942|-0.0942	10|5	0.72032|.	D|.	0.01|.	.|.	20.0149|20.0149	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1242;845;1242;1242|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	K|Q	1242;1242;854;854|845	ENSP00000297954:E1242K;ENSP00000378860:E1242K;ENSP00000297876:E854K;ENSP00000411181:E854K|.	ENSP00000297954:E1242K|.	E|R	+|+	1|2	0|0	WNK2|WNK2	95069876|95069876	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.991000|0.991000	0.79684|0.79684	9.676000|9.676000	0.98643|0.98643	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.577	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		A	96030055	G	A	96030055	3	1	111	1	0	0	0	0	1	0	0	0	17375	1059	37	2	3786	2	WNK2	9	96030055	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	21684994	96030055	45183376	37	7548											
NANS	54187	broad.mit.edu	37	chr9	100823174	100823174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcctgggggaagacgtaCggggagcacaaacgacatct	12	6	13	10	3	1	1	0	0	1	1	2	4	2	3	1	4	3	2	1	4	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:100823174C>T	ENST00000210444.5	+	2	313	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	81					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GGAAGACGTACGGGGAGCACA	0.527																																						uc004ayc.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(241-243)taC>taT		Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.							217	203	208					9																	100823174		2203	4300	6503	SO:0001819	synonymous_variant	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100823174C>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.243C>T	9.37:g.100823174C>T							p.Y81Y	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN			1	375	+		Acute lymphoblastic leukemia(62;0.0559)	81					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	ENST00000210444.5	37	c.243C>T	CCDS6733.1																																																																																				0.527	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		T	100823174	C	T	100823174	2	4	111	1	0	0	0	0	0	0	0	1	10155	547	19	1		1	NANS	9	100823174	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	4793119	100823174	40390257	38	7549											
SVEP1	79987	broad.mit.edu	37	chr9	113173811	113173811	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgccctgggcattgcaGagaagctgggaattgtctgc	8	10	13	10	0	1	1	0	0	1	1	1	3	1	2	1	2	4	3	1	2	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:113173811G>T	ENST00000401783.2	-	37	6516	c.6180C>A	c.(6178-6180)ctC>ctA	p.L2060L	SVEP1_ENST00000297826.5_De_novo_Start_OutOfFrame|SVEP1_ENST00000374469.1_Silent_p.L2037L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2060	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCATTGCAGAGAAGCTGGG	0.512																																						uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6178-6180)ctC>ctA		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							45	46	46					9																	113173811		1934	4128	6062	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173811G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6180C>A	9.37:g.113173811G>T						SVEP1_uc010mty.3_5'UTR	p.L2060L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			36	6517	-			2060			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.6180C>A	CCDS48004.1																																																																																				0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113173811	G	T	113173811	2	4	111	1	0	0	0	0	0	0	0	1	15417	929	33	5		5	SVEP1	9	113173811	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	12350637	113173811	28039620	39	7550											
FAM13C	220965	broad.mit.edu	37	chr10	61023889	61023889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcattcatccatttcAggacttcaggattagaagtc	13	12	6	10	0	4	1	4	0	0	1	6	3	5	3	2	2	0	0	2	2	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr10:61023889A>G	ENST00000373868.2	-	9	1067	c.980T>C	c.(979-981)cTg>cCg	p.L327P	FAM13C_ENST00000435852.2_Missense_Mutation_p.L327P|FAM13C_ENST00000468840.2_Missense_Mutation_p.L244P|FAM13C_ENST00000373867.3_Missense_Mutation_p.L244P|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000422313.2_Missense_Mutation_p.L327P|FAM13C_ENST00000277705.6_Missense_Mutation_p.L348P|FAM13C_ENST00000442566.3_Missense_Mutation_p.L348P	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCCATTTCAGGACTTCAGG	0.453																																						uc010qif.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1045-1047)cTg>cCg		Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.							127	115	119					10																	61023889		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61023889A>G	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.980T>C	10.37:g.61023889A>G	ENSP00000362975:p.Leu327Pro					FAM13C_uc010qid.2_Missense_Mutation_p.L244P|FAM13C_uc001jkn.3_Missense_Mutation_p.L327P|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.L244P|FAM13C_uc001jkp.3_Missense_Mutation_p.L244P	p.L349P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			8	1112	-			327					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1046T>C	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893777	0.72639	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000024	D	0.88562	0.6470	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.988;0.984;0.991;0.991	D	0.89827	0.3993	10	0.72032	D	0.01	-11.3229	16.3766	0.83401	1.0:0.0:0.0:0.0	.	327;244;327;327	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	P	244;327;348;348;244;327;327;105	ENSP00000362974:L244P;ENSP00000362975:L327P;ENSP00000395661:L348P;ENSP00000277705:L348P;ENSP00000423896:L244P;ENSP00000392302:L327P;ENSP00000400241:L327P;ENSP00000445068:L105P	ENSP00000277705:L348P	L	-	2	0	FAM13C	60693895	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.193000	0.72075	2.263000	0.75096	0.533000	0.62120	CTG		0.453	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			G	61023889	A	G	61023889	3	3	111	1	0	0	0	0	1	0	0	0	5454	188	7	4	801	4	FAM13C	10	61023889	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08		61023889	74510858	40	7551											
DCHS1	8642	broad.mit.edu	37	chr11	6655171	6655171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacttatactggcagcataCtcccgtggataaaactgagg	12	9	10	10	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:6655171C>G	ENST00000299441.3	-	4	2478	c.2067G>C	c.(2065-2067)gaG>gaC	p.E689D	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	689	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGCATACTCCCGTGGAT	0.557																																						uc001mem.1																			0		p.R688L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2065-2067)gaG>gaC		Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.							72	74	74					11																	6655171		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655171C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2067G>C	11.37:g.6655171C>G	ENSP00000299441:p.Glu689Asp						p.E689D	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	2468	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	689			Cadherin 7.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2067G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901265	0.17760	.	.	ENSG00000166341	ENST00000299441	T	0.15834	2.39	4.38	3.37	0.38596	Cadherin (2);Cadherin-like (1);	0.380595	0.19242	N	0.119158	T	0.22627	0.0546	L	0.31420	0.93	0.29657	N	0.84354	D	0.58268	0.982	D	0.67548	0.952	T	0.02320	-1.1177	10	0.30854	T	0.27	.	7.0119	0.24867	0.0:0.7094:0.1815:0.1091	.	689	Q96JQ0	PCD16_HUMAN	D	689	ENSP00000299441:E689D	ENSP00000299441:E689D	E	-	3	2	DCHS1	6611747	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.630000	0.37081	2.267000	0.75376	0.561000	0.74099	GAG		0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		G	6655171	C	G	6655171	3	3	111	1	0	0	0	0	1	0	0	0	4287	564	20	5	7901	5	DCHS1	11	6655171	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		6655171	128351345	41	7552											
WT1	7490	broad.mit.edu	37	chr11	32450114	32450114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaactgcgccgcatggtgcGagggcgtgtgaccgtagctg	6	7	18	10	5	0	1	0	1	0	0	0	3	0	2	2	3	4	3	2	3	2	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:32450114G>A	ENST00000379079.2	-	2	335	c.62C>T	c.(61-63)tCg>tTg	p.S21L	WT1_ENST00000530998.1_Missense_Mutation_p.S21L|WT1_ENST00000332351.3_Missense_Mutation_p.S233L|WT1_ENST00000448076.3_Missense_Mutation_p.S233L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	165					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGCATGGTGCGAGGGCGTGTG	0.632			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.2			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM983967	WT1	M		c.(697-699)tCg>tTg		Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.							97	72	80					11																	32450114		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32450114G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.62C>T	11.37:g.32450114G>A	ENSP00000368370:p.Ser21Leu					WT1_uc001mtl.2_Missense_Mutation_p.S21L|WT1_uc001mtm.2_Missense_Mutation_p.S21L|WT1_uc001mto.2_Missense_Mutation_p.S233L|WT1_uc001mtq.2_Missense_Mutation_p.S233L|WT1_uc009yjs.2_Non-coding_Transcript	p.S233L	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		1	888	-	Breast(20;0.247)		165					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.698C>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908713	0.92107	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	Wilm&apos (1);s tumour protein, N-terminal (1);	0.097481	0.42053	U	0.000776	D	0.89266	0.6666	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D	0.64830	0.994;0.974;0.994;0.985;0.968	P;P;P;P;P	0.52109	0.64;0.687;0.69;0.542;0.503	D	0.89356	0.3664	10	0.54805	T	0.06	.	19.6639	0.95886	0.0:0.0:1.0:0.0	.	238;165;238;21;21	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	L	21;233;21;233;233	ENSP00000368370:S21L;ENSP00000331327:S233L;ENSP00000435307:S21L;ENSP00000415516:S233L;ENSP00000413452:S233L	ENSP00000331327:S233L	S	-	2	0	WT1	32406690	1.000000	0.71417	0.981000	0.43875	0.488000	0.33401	7.237000	0.78164	2.744000	0.94065	0.561000	0.74099	TCG		0.632	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		A	32450114	G	A	32450114	3	1	111	1	0	0	0	0	1	0	0	0	17405	1059	37	2	891	2	WT1	11	32450114	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	25794943	32450114	102556402	42	7553											
SLC22A25	387601	broad.mit.edu	37	chr11	62948177	62948177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttacatatgttgggtatgCggagcaattcacaaagagaa	14	12	10	5	1	1	1	1	0	0	1	1	3	1	2	0	2	3	3	0	2	6	6			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:62948177C>T	ENST00000306494.6	-	6	1024	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.R176H|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTTGGGTATGCGGAGCAATTC	0.383																																						uc001nwr.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(1024-1026)cGc>cAc		Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.							156	145	149					11																	62948177		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62948177C>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1025G>A	11.37:g.62948177C>T	ENSP00000307443:p.Arg342His					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H	p.R342H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			5	1025	-			342						Missense_Mutation	SNP	ENST00000306494.6	37	c.1025G>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	8.988	0.976953	0.18812	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.62788	-0.0;-0.0	3.39	-2.46	0.06461	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.322512	0.32736	N	0.005714	T	0.44644	0.1303	L	0.48877	1.53	0.09310	N	1	B;B	0.21147	0.052;0.046	B;B	0.23574	0.047;0.047	T	0.22103	-1.0226	10	0.28530	T	0.3	.	3.744	0.08541	0.1673:0.4294:0.0:0.4034	.	340;342	A4IF29;Q6T423	.;S22AP_HUMAN	H	342;176	ENSP00000307443:R342H;ENSP00000384208:R176H	ENSP00000307443:R342H	R	-	2	0	SLC22A25	62704753	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.215000	0.09279	-0.876000	0.04017	0.579000	0.79373	CGC		0.383	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		T	62948177	C	T	62948177	3	4	111	1	0	0	0	0	1	0	0	0	14454	768	27	1	634	1	SLC22A25	11	62948177	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	30498063	62948177	72058339	43	7554											
ARAP1	116985	broad.mit.edu	37	chr11	72423533	72423533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcatccccttggtcGtccccagacagttcctctcc	4	13	5	19	1	3	1	1	0	2	1	9	1	7	1	7	1	0	1	7	1	0	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:72423533G>A	ENST00000393609.3	-	6	1030	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_ENST00000393605.3_Silent_p.D36D|ARAP1_ENST00000359373.5_Silent_p.D276D|ARAP1_ENST00000426523.1_Silent_p.D31D|ARAP1_ENST00000455638.2_Silent_p.D276D|ARAP1_ENST00000429686.1_Silent_p.D31D|ARAP1_ENST00000334211.8_Silent_p.D31D	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	276					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCTTGGTCGTCCCCAGACA	0.682																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.3																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(826-828)gaC>gaT		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.							193	138	157					11																	72423533		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72423533G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.828C>T	11.37:g.72423533G>A						ARAP1_uc001osv.3_Silent_p.D276D|ARAP1_uc001osr.3_Silent_p.D36D|ARAP1_uc001oss.3_Silent_p.D31D|ARAP1_uc009yth.3_Silent_p.D31D|ARAP1_uc010rre.2_Silent_p.D31D	p.D276D	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN			5	1017	-			276					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.828C>T	CCDS41687.1																																																																																				0.682	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72423533	G	A	72423533	2	1	111	1	0	0	0	0	0	0	0	1	838	1136	40	1		1	ARAP1	11	72423533	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	9475356	72423533	62582983	44	7555											
PRCP	5547	broad.mit.edu	37	chr11	82564244	82564244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttgtcaccaaaggggAgagactctccatagtatcga	13	9	11	8	1	2	2	1	1	1	1	4	5	2	3	2	2	0	2	2	2	3	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:82564244A>G	ENST00000313010.3	-	3	580	c.386T>C	c.(385-387)cTc>cCc	p.L129P	PRCP_ENST00000393399.2_Missense_Mutation_p.L150P|PRCP_ENST00000535099.1_Missense_Mutation_p.L24P	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	129					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAAAGGGGAGAGACTCTCC	0.363																																						uc001ozs.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(385-387)cTc>cCc		Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.							100	88	92					11																	82564244		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82564244A>G	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.386T>C	11.37:g.82564244A>G	ENSP00000317362:p.Leu129Pro					PRCP_uc001ozr.3_Missense_Mutation_p.L150P	p.L129P	NM_005040	NP_005031	P42785	PCP_HUMAN			2	499	-			129					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.386T>C	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970328	0.74246	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126;ENST00000534264	D;D;D;D;D;D;T;T;T;D;T;T;T	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;2.49;2.49;2.49;-3.1;2.49;2.49;2.49	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.96824	0.8963	M	0.92122	3.275	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.967;0.986	D	0.97739	1.0207	9	.	.	.	-10.2938	14.8713	0.70459	1.0:0.0:0.0:0.0	.	129;150	P42785;A8MU24	PCP_HUMAN;.	P	129;150;24;24;24;24;24;24;88;24;75;24;24	ENSP00000317362:L129P;ENSP00000377055:L150P;ENSP00000442077:L24P;ENSP00000432004:L24P;ENSP00000431559:L24P;ENSP00000436141:L24P;ENSP00000431435:L24P;ENSP00000432506:L24P;ENSP00000434771:L88P;ENSP00000435071:L24P;ENSP00000437169:L75P;ENSP00000431496:L24P;ENSP00000436095:L24P	.	L	-	2	0	PRCP	82241892	0.992000	0.36948	0.793000	0.32043	0.881000	0.50899	8.947000	0.93000	1.911000	0.55334	0.528000	0.53228	CTC		0.363	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		G	82564244	A	G	82564244	3	3	111	1	0	0	0	0	1	0	0	0	12449	304	11	4	1132	4	PRCP	11	82564244	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	10140711	82564244	52442272	45	7556											
TMEM19	55266	broad.mit.edu	37	chr12	72092727	72092727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtctccagtctccttGgtggtacctttgtgggcatt	3	16	11	11	0	2	0	0	0	2	0	4	0	2	0	4	3	1	2	4	3	1	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:72092727G>A	ENST00000266673.5	+	5	1279	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.G229S	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	229						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTCTCCTTGGTGGTACCTT	0.443																																						uc001sws.3																			0				large_intestine(1)|lung(8)	9						c.(685-687)Ggt>Agt		Homo sapiens transmembrane protein 19 (TMEM19), mRNA.							285	232	250					12																	72092727		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72092727G>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.685G>A	12.37:g.72092727G>A	ENSP00000266673:p.Gly229Ser					TMEM19_uc001swr.1_Missense_Mutation_p.G215S	p.G229S	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	4	1268	+		Breast(359;0.0889)	229					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.685G>A	CCDS9002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.844387|5.844387	0.97016|0.97016	.|.	.|.	ENSG00000139291|ENSG00000139291	ENST00000266673;ENST00000549735;ENST00000546677;ENST00000546795|ENST00000550787	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.161276|.	0.56097|.	D|.	0.000030|.	D|.	0.88407|.	0.6428|.	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.80764|.	0.956;0.994|.	D|.	0.90900|.	0.4768|.	9|.	0.87932|.	D|.	0|.	-9.0932|-9.0932	19.0599|19.0599	0.93085|0.93085	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;229|.	Q96HH6;Q96HH6-2|.	TMM19_HUMAN;.|.	S|X	229;229;128;73|44	.|.	ENSP00000266673:G229S|.	G|W	+|+	1|2	0|0	TMEM19|TMEM19	70378994|70378994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.443	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		A	72092727	G	A	72092727	3	1	111	1	0	0	0	0	1	0	0	0	16110	1348	47	3	703	3	TMEM19	12	72092727	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		72092727	61759168	46	7557											
SOCS2	8835	broad.mit.edu	37	chr12	93968661	93968661	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaatcgaataccaagaCggaaaattcagattggactc	15	9	8	9	3	1	2	1	0	0	2	4	6	1	4	1	2	1	0	1	2	6	4	rs148086876		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:93968661C>T	ENST00000340600.2	+	3	901	c.303C>T	c.(301-303)gaC>gaT	p.D101D	SOCS2_ENST00000536696.2_Silent_p.D101D|SOCS2_ENST00000551556.1_Silent_p.D101D|SOCS2_ENST00000549206.1_Silent_p.D101D|SOCS2_ENST00000549122.1_Silent_p.D101D|SOCS2_ENST00000548537.1_3'UTR	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	101	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATACCAAGACGGAAAATTCA	0.378																																						uc001tcw.1																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						c.(301-303)gaC>gaT		Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.		C		0,4406		0,0,2203	86	80	82		303	0.6	1	12	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SOCS2	NM_003877.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		101/199	93968661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968661C>T	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.303C>T	12.37:g.93968661C>T						SOCS2_uc021rbx.1_Silent_p.D101D|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.3_3'UTR	p.D101D	NM_003877	NP_003868	O14508	SOCS2_HUMAN			2	893	+			101			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Silent	SNP	ENST00000340600.2	37	c.303C>T	CCDS9047.1																																																																																				0.378	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			T	93968661	C	T	93968661	2	4	111	1	0	0	0	0	0	0	0	1	14914	535	19	1		1	SOCS2	12	93968661	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	21875934	93968661	39883234	47	7558											
RIC8B	55188	broad.mit.edu	37	chr12	107208579	107208579	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccagagacaaaaaggttTtagttcctgtgacaactaag	14	11	8	8	0	1	2	0	1	1	1	3	3	2	2	2	1	1	2	2	1	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:107208579T>G	ENST00000392839.2	+	3	344	c.238T>G	c.(238-240)Tta>Gta	p.L80V	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Missense_Mutation_p.L80V|RIC8B_ENST00000355478.2_Missense_Mutation_p.L40V	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	80					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAAAAGGTTTTAGTTCCTGT	0.413																																						uc001tlw.3																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(238-240)Tta>Gta		Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.							89	82	84					12																	107208579		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208579T>G	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.238T>G	12.37:g.107208579T>G	ENSP00000376583:p.Leu80Val					RIC8B_uc001tlx.3_Missense_Mutation_p.L80V|RIC8B_uc001tly.3_Missense_Mutation_p.L40V|RIC8B_uc001tlz.3_Non-coding_Transcript	p.L80V	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			2	363	+			80					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.238T>G	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343514	0.61073	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.65732	0.77;0.77;0.77;-0.17	5.36	4.2	0.49525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	T	0.77811	-0.2449	10	0.45353	T	0.12	-2.7896	9.1666	0.37054	0.0:0.1964:0.0:0.8036	.	40;80;80	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	V	80;80;40;64	ENSP00000376582:L80V;ENSP00000376583:L80V;ENSP00000347662:L40V;ENSP00000448743:L64V	ENSP00000347662:L40V	L	+	1	2	RIC8B	105732709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.695000	0.47043	2.161000	0.67846	0.533000	0.62120	TTA		0.413	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		G	107208579	T	G	107208579	3	3	111	1	0	0	0	0	1	0	0	0	13356	1838	64	5	248	5	RIC8B	12	107208579	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	13239918	107208579	26643316	48	7559											
MLXIP	22877	broad.mit.edu	37	chr12	122613736	122613736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcgagattgtgatccGggagtatcacaagtggagaa	12	8	13	8	3	1	3	1	1	0	2	3	6	2	4	2	2	0	2	2	2	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:122613736G>A	ENST00000319080.7	+	4	791	c.659G>A	c.(658-660)cGg>cAg	p.R220Q						MLX interacting protein									p.R220Q(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.3																			1	Substitution - Missense(1)	p.R220Q(2)	lung(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(658-660)cGg>cAg		Homo sapiens MLX interacting protein (MLXIP), mRNA.							51	56	54					12																	122613736		1939	4141	6080	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122613736G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.659G>A	12.37:g.122613736G>A	ENSP00000312834:p.Arg220Gln					MLXIP_uc001ubr.3_5'UTR|MLXIP_uc001ubs.1_5'Flank	p.R220Q	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	3	767	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	220			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.659G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.133811	0.94517	.	.	ENSG00000175727	ENST00000319080	T	0.28454	1.61	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.58077	0.832	T	0.57991	-0.7715	9	0.72032	D	0.01	-13.8192	15.2244	0.73339	0.0:0.0:0.8582:0.1417	.	220	Q9HAP2	MLXIP_HUMAN	Q	220	ENSP00000312834:R220Q	ENSP00000312834:R220Q	R	+	2	0	MLXIP	121179690	1.000000	0.71417	0.727000	0.30756	0.970000	0.65996	7.973000	0.88032	1.212000	0.43366	0.655000	0.94253	CGG		0.557	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		A	122613736	G	A	122613736	3	1	111	1	0	0	0	0	1	0	0	0	9636	1116	39	2	673	2	MLXIP	12	122613736	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	15405157	122613736	11238159	49	7560											
NUBP1	4682	broad.mit.edu	37	chr16	10837884	10837884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggatgccccaaccagcGgctgtgcgcttctggagcgg	6	7	15	13	3	2	0	1	0	1	0	2	2	2	2	3	4	5	2	3	4	1	1	rs201425370		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:10837884G>A	ENST00000283027.5	+	2	105	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.R29Q	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCAACCAGCGGCTGTGCGCT	0.657													G|||	1	0.000199681	0	0	5008	,	,		13408	0.001		0	False		,,,				2504	0					uc002daa.1																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(85-87)cGg>cAg		Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.							16	16	16					16																	10837884		2193	4297	6490	SO:0001583	missense	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10837884G>A	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.86G>A	16.37:g.10837884G>A	ENSP00000283027:p.Arg29Gln					NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	p.R29Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN			1	109	+			29						Missense_Mutation	SNP	ENST00000283027.5	37	c.86G>A	CCDS10543.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	10.87	1.473077	0.26423	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.16597	2.33;2.33	4.12	3.13	0.36017	.	0.642920	0.13872	N	0.356959	T	0.03739	0.0106	N	0.02876	-0.465	0.28235	N	0.925949	B;B	0.11235	0.001;0.004	B;B	0.09377	0.004;0.002	T	0.39702	-0.9601	10	0.11485	T	0.65	-21.661	5.0447	0.14477	0.1982:0.1738:0.628:0.0	.	29;29	P53384-2;P53384	.;NUBP1_HUMAN	Q	29	ENSP00000283027:R29Q;ENSP00000409654:R29Q	ENSP00000283027:R29Q	R	+	2	0	NUBP1	10745385	1.000000	0.71417	0.959000	0.39883	0.988000	0.76386	3.389000	0.52516	0.807000	0.34208	0.563000	0.77884	CGG		0.657	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		A	10837884	G	A	10837884	3	1	111	1	0	0	0	0	1	0	0	0	10715	1116	39	2	92	2	NUBP1	16	10837884	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		10837884	79516869	50	7561											
C17orf74	201243	broad.mit.edu	37	chr17	7330635	7330635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaccctgcccctccccCgaccatgtttgtcccactca	5	9	7	20	2	1	0	1	0	0	0	3	2	3	1	7	1	2	1	7	1	0	1	rs532496564		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:7330635C>T	ENST00000333870.3	+	3	1399	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	442						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCCCTCCCCCGACCATGTTT	0.647													C|||	1	0.000199681	0	0	5008	,	,		18661	0		0	False		,,,				2504	0.001					uc002ggw.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1324-1326)cCg>cTg		Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.							47	52	51					17																	7330635		2006	4158	6164	SO:0001583	missense	201243					integral to membrane		g.chr17:7330635C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1325C>T	17.37:g.7330635C>T	ENSP00000328061:p.Pro442Leu					SPEM1_uc010vtw.1_Intron	p.P442L	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			2	1398	+		Prostate(122;0.157)	442						Missense_Mutation	SNP	ENST00000333870.3	37	c.1325C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509579	0.27036	.	.	ENSG00000184560	ENST00000333870	T	0.37058	1.22	4.58	1.41	0.22369	.	0.800861	0.10197	N	0.703854	T	0.18045	0.0433	N	0.24115	0.695	0.09310	N	1	P	0.42961	0.795	B	0.30572	0.117	T	0.13255	-1.0516	10	0.62326	D	0.03	-11.969	4.8783	0.13667	0.3827:0.5162:0.0:0.101	.	442	Q0P670	CQ074_HUMAN	L	442	ENSP00000328061:P442L	ENSP00000328061:P442L	P	+	2	0	C17orf74	7271359	0.000000	0.05858	0.002000	0.10522	0.124000	0.20399	0.047000	0.14056	0.621000	0.30232	0.491000	0.48974	CCG		0.647	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		T	7330635	C	T	7330635	3	4	111	1	0	0	0	0	1	0	0	0	1879	652	23	2	1335	2	C17orf74	17	7330635	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		7330635	73864575	51	7562											
PIK3R5	23533	broad.mit.edu	37	chr17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagcagggaatctctctcgGcacagtgcccgtcagtttcc	8	9	11	13	2	3	1	1	0	2	1	6	2	4	2	2	2	2	3	2	2	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:8792082G>A	ENST00000447110.1	-	10	1146	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A341V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A341V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1021-1023)gCc>gTc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.							110	105	107					17																	8792082		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792082G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1022C>T	17.37:g.8792082G>A	ENSP00000392812:p.Ala341Val					PIK3R5_uc010vuz.2_Missense_Mutation_p.A341V|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	p.A341V	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN			9	1089	-			341	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1022C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	7.516	0.655655	0.14580	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78595	-1.19	5.51	2.36	0.29203	.	0.314311	0.34777	N	0.003689	T	0.60392	0.2265	N	0.24115	0.695	0.09310	N	1	B	0.26775	0.159	B	0.24848	0.056	T	0.50242	-0.8851	10	0.38643	T	0.18	-11.701	7.1878	0.25809	0.1483:0.0:0.712:0.1397	.	341	Q8WYR1	PI3R5_HUMAN	V	341	ENSP00000392812:A341V	ENSP00000269300:A341V	A	-	2	0	PIK3R5	8732807	0.412000	0.25392	0.006000	0.13384	0.340000	0.28889	2.120000	0.41968	0.647000	0.30713	0.650000	0.86243	GCC		0.617	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8792082	G	A	8792082	3	1	111	1	0	0	0	0	1	0	0	0	11922	1203	42	3	1660	3	PIK3R5	17	8792082	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	1461447	8792082	72403128	52	7563											
FBXW10	10517	broad.mit.edu	37	chr17	18651317	18651317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccacagctccaagtctgCgacctcacaagtctattgga	12	8	8	13	1	3	1	1	0	2	1	4	3	4	2	3	1	2	1	3	1	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:18651317C>T	ENST00000395665.4	+	2	790	c.569C>T	c.(568-570)gCg>gTg	p.A190V	FBXW10_ENST00000395667.1_Missense_Mutation_p.A190V|FBXW10_ENST00000301938.4_Missense_Mutation_p.A190V|FBXW10_ENST00000308799.4_Missense_Mutation_p.A190V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	190										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCAAGTCTGCGACCTCACAA	0.478																																						uc002gul.3																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(568-570)gCg>gTg		Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.							34	35	34					17																	18651317		2201	4276	6477	SO:0001583	missense	10517							g.chr17:18651317C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.569C>T	17.37:g.18651317C>T	ENSP00000379025:p.Ala190Val					FBXW10_uc002guj.3_Missense_Mutation_p.A190V|FBXW10_uc002guk.3_Missense_Mutation_p.A190V|FBXW10_uc010cqh.2_Missense_Mutation_p.A190V	p.A190V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			1	801	+			190					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.569C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386322	0.04966	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	2.08	-0.363	0.12556	.	0.637187	0.15213	N	0.274345	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.35699	-0.9778	10	0.10902	T	0.67	.	2.8461	0.05543	0.4836:0.266:0.0:0.2504	.	190;190;190;190	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	V	190	ENSP00000379026:A190V;ENSP00000310382:A190V;ENSP00000306937:A190V;ENSP00000379025:A190V	ENSP00000306937:A190V	A	+	2	0	FBXW10	18592042	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	0.325000	0.19628	-0.130000	0.11599	-2.016000	0.00434	GCG		0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		T	18651317	C	T	18651317	3	4	111	1	0	0	0	0	1	0	0	0	5763	768	27	1	575	1	FBXW10	17	18651317	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	9859235	18651317	62543893	53	7564											
PIPOX	51268	broad.mit.edu	37	chr17	27380567	27380567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatcacagcaggtccttGgaccaaccagctcctccgtc	8	8	9	16	1	2	0	2	0	0	0	6	1	5	1	5	3	3	2	5	3	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:27380567G>C	ENST00000323372.4	+	4	940	c.614G>C	c.(613-615)tGg>tCg	p.W205S	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	205					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCAGGTCCTTGGACCAACCAG	0.567																																						uc002hdr.1																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(613-615)tGg>tCg		Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	Glycine(DB00145)						96	88	90					17																	27380567		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380567G>C	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.614G>C	17.37:g.27380567G>C	ENSP00000317721:p.Trp205Ser						p.W205S	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		3	940	+	Lung NSC(42;0.015)		205					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.614G>C	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682957	0.88542	.	.	ENSG00000179761	ENST00000323372	D	0.85411	-1.98	5.77	5.77	0.91146	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94762	0.7937	10	0.87932	D	0	-12.784	19.1176	0.93348	0.0:0.0:1.0:0.0	.	205	Q9P0Z9	SOX_HUMAN	S	205	ENSP00000317721:W205S	ENSP00000317721:W205S	W	+	2	0	PIPOX	24404693	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.247000	0.89830	2.884000	0.98904	0.655000	0.94253	TGG		0.567	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		C	27380567	G	C	27380567	3	2	111	1	0	0	0	0	1	0	0	0	11943	1357	47	5	628	5	PIPOX	17	27380567	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	8729250	27380567	53814643	54	7565											
SLC35B1	10237	broad.mit.edu	37	chr17	47780551	47780551	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctttcaagcactcaccTgacccagggcactggtcagc	8	8	8	17	0	3	1	3	1	0	0	4	1	4	1	4	2	2	2	4	2	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:47780551T>C	ENST00000240333.6	-	7	882	c.761A>G	c.(760-762)cAg>cGg	p.Q254R	SLC35B1_ENST00000415270.2_Splice_Site_p.Q291R			P78383	S35B1_HUMAN	solute carrier family 35, member B1	254					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGCACTCACCTGACCCAGGGC	0.547																																						uc002iph.1																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.e7+1		Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.							78	71	73					17																	47780551		2203	4300	6503	SO:0001630	splice_region_variant	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780551T>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.762+1A>G	17.37:g.47780551T>C						SLC35B1_uc002ipj.1_Splice_Site_p.Q130_splice	p.Q254_splice	NM_005827	NP_005818	P78383	S35B1_HUMAN			7	849	-			254					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.762_splice	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904216	0.92035	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.36699	1.24;1.24;1.24	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81771	-0.0780	10	0.87932	D	0	-1.4805	14.5786	0.68268	0.0:0.0:0.0:1.0	.	187;254	D3DTX1;P78383	.;S35B1_HUMAN	R	254;291;130;130;187	ENSP00000240333:Q254R;ENSP00000409548:Q291R;ENSP00000423323:Q187R	ENSP00000240333:Q254R	Q	-	2	0	SLC35B1	45135550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.866000	0.69590	2.098000	0.63641	0.459000	0.35465	CAG		0.547	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827	Missense_Mutation	C	47780551	T	C	47780551	5	2	111	1	0	0	0	0	0	0	1	0	14575	1594	55	4	219	4	SLC35B1	17	47780551	Splice_Site	SNP	T	TCGA-12-0615-01A-01D-1492-08	20399984	47780551	33414659	55	7566											
KCNH6	81033	broad.mit.edu	37	chr17	61613122	61613122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctactctgagtatggggcGgctgtgctcttcttgctcat	4	14	12	11	2	4	1	1	1	3	0	4	1	4	1	0	3	3	5	0	3	2	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:61613122G>A	ENST00000583023.1	+	6	1205	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	KCNH6_ENST00000456941.2_Silent_p.A398A|KCNH6_ENST00000581784.1_Silent_p.A398A|KCNH6_ENST00000580652.1_Silent_p.A398A|KCNH6_ENST00000314672.5_Silent_p.A398A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	398					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGTATGGGGCGGCTGTGCTCT	0.617																																						uc002jay.3																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1192-1194)gcG>gcA		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	Ibutilide(DB00308)						96	83	88					17																	61613122		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613122G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1194G>A	17.37:g.61613122G>A						KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.2_Silent_p.A275A|KCNH6_uc010wpm.2_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	p.A398A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1274	+			398					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1194G>A	CCDS11638.1																																																																																				0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		A	61613122	G	A	61613122	2	1	111	1	0	0	0	0	0	0	0	1	8036	1103	39	2		2	KCNH6	17	61613122	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	13832571	61613122	19582088	56	7567											
TMEM105	284186	broad.mit.edu	37	chr17	79287573	79287573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaagaaagccagactgccCccaggcaggcccttcatgtc	10	6	10	15	0	1	2	1	0	0	2	2	2	1	2	4	2	3	2	4	2	2	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:79287573C>T	ENST00000332900.1	-	3	817	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	90						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCAGACTGCCCCCAGGCAGGC	0.662																																						uc002kad.2																			0				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7						c.(268-270)Ggg>Agg		Homo sapiens transmembrane protein 105 (TMEM105), mRNA.							61	70	67					17																	79287573		2203	4300	6503	SO:0001583	missense	284186					integral to membrane		g.chr17:79287573C>T	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.268G>A	17.37:g.79287573C>T	ENSP00000329795:p.Gly90Arg						p.G90R	NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		2	818	-	all_neural(118;0.0804)|Melanoma(429;0.242)		90						Missense_Mutation	SNP	ENST00000332900.1	37	c.268G>A	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560019	0.27827	.	.	ENSG00000185332	ENST00000332900	T	0.58797	0.31	2.13	1.1	0.20463	.	.	.	.	.	T	0.37517	0.1006	N	0.08118	0	0.09310	N	1	P	0.49185	0.92	P	0.46585	0.521	T	0.20605	-1.0270	9	0.87932	D	0	.	4.0037	0.09592	0.0:0.763:0.0:0.237	.	90	Q8N8V8	TM105_HUMAN	R	90	ENSP00000329795:G90R	ENSP00000329795:G90R	G	-	1	0	TMEM105	76902168	0.049000	0.20398	0.006000	0.13384	0.443000	0.32047	1.302000	0.33459	0.423000	0.26033	0.491000	0.48974	GGG		0.662	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		T	79287573	C	T	79287573	3	4	111	1	0	0	0	0	1	0	0	0	16016	623	22	3	125	3	TMEM105	17	79287573	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	17674451	79287573	1907637	57	7568											
LAMA1	284217	broad.mit.edu	37	chr18	7010303	7010303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacctttgatgagaacttGaggctcaaaattggaggtgc	12	10	11	8	0	1	3	1	3	0	1	1	5	1	4	2	3	2	1	2	3	3	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr18:7010303G>C	ENST00000389658.3	-	26	3862	c.3769C>G	c.(3769-3771)Caa>Gaa	p.Q1257E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1257	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATGAGAACTTGAGGCTCAAAA	0.463																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3769-3771)Caa>Gaa		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						150	134	139					18																	7010303		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7010303G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3769C>G	18.37:g.7010303G>C	ENSP00000374309:p.Gln1257Glu					LAMA1_uc010wzj.2_Missense_Mutation_p.Q733E	p.Q1257E	NM_005559	NP_005550	P25391	LAMA1_HUMAN			25	3863	-		Colorectal(10;0.172)	1257			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3769C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904412	0.92035	.	.	ENSG00000101680	ENST00000389658	T	0.35789	1.29	5.57	5.57	0.84162	Laminin B type IV (2);Laminin B, subgroup (1);	0.062829	0.64402	D	0.000005	T	0.59088	0.2168	M	0.73319	2.225	0.58432	D	0.999999	D	0.64830	0.994	D	0.64237	0.923	T	0.54503	-0.8284	10	0.35671	T	0.21	.	19.5478	0.95307	0.0:0.0:1.0:0.0	.	1257	P25391	LAMA1_HUMAN	E	1257	ENSP00000374309:Q1257E	ENSP00000374309:Q1257E	Q	-	1	0	LAMA1	7000303	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.632000	0.89209	0.579000	0.79373	CAA		0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	7010303	G	C	7010303	3	2	111	1	0	0	0	0	1	0	0	0	8605	1299	45	5	5610	5	LAMA1	18	7010303	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		7010303	71066945	58	7569											
MIDN	90007	broad.mit.edu	37	chr19	1250466	1250466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggtggaggggctgcgCaagcggttgtcccagcgcct	6	6	18	11	4	0	1	0	0	0	1	1	3	1	2	2	5	3	3	2	5	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:1250466C>G	ENST00000591446.2	+	1	580	c.171C>G	c.(169-171)cgC>cgG	p.R57R	MIDN_ENST00000300952.2_Silent_p.R57R			Q504T8	MIDN_HUMAN	midnolin	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGCTGCGCAAGCGGTTGT	0.736																																						uc002lrp.3																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(169-171)cgC>cgG		Homo sapiens midnolin (MIDN), mRNA.							13	13	13					19																	1250466		2130	4204	6334	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1250466C>G	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.171C>G	19.37:g.1250466C>G							p.R57R	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	686	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	57			Ubiquitin-like.		Q96BW8	Silent	SNP	ENST00000591446.2	37	c.171C>G	CCDS32864.1																																																																																				0.736	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			G	1250466	C	G	1250466	2	3	111	1	0	0	0	0	0	0	0	1	9579	697	25	5		5	MIDN	19	1250466	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08		1250466	57878517	59	7570											
RAVER1	3385	broad.mit.edu	37	chr19	10444148	10444148	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccagacttagggctcagCgggggccggtgagtaacgga	8	5	17	11	3	1	2	1	1	0	1	1	3	1	3	3	5	2	2	3	5	2	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:10444148C>T	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Silent_p.P29P	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TAGGGCTCAGCGGGGGCCGGT	0.692																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(85-87)ccG>ccA		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							21	26	25					19																	10444148		1831	4069	5900	SO:0001628	intergenic_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10444148C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444148C>T							p.P29P	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		0	167	-			12					Q6PD68	Silent	SNP	ENST00000160262.5	37	c.87G>A	CCDS12235.1																																																																																				0.692	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			T	10444148	C	T	10444148	1	4	111	0	1	0	0	0	0	0	0	0	13094	755	27	1		1	RAVER1	19	10444148	IGR	SNP	C	TCGA-12-0615-01A-01D-1492-08	9193682	10444148	48684835	60	7571											
USHBP1	83878	broad.mit.edu	37	chr19	17366376	17366376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggccccgcttctcacgccGcaccagctgcagccgaagca	8	5	10	18	4	1	0	1	0	1	0	2	1	1	0	5	1	4	5	5	1	2	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:17366376G>A	ENST00000252597.3	-	10	1683	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	USHBP1_ENST00000431146.2_Missense_Mutation_p.R440W|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCTCACGCCGCACCAGCTGC	0.647																																						uc002nfs.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1510-1512)Cgg>Tgg		Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.							14	16	15					19																	17366376		2194	4285	6479	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17366376G>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1510C>T	19.37:g.17366376G>A	ENSP00000252597:p.Arg504Trp					USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	p.R504W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			9	1623	-			504						Missense_Mutation	SNP	ENST00000252597.3	37	c.1510C>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711483	0.30322	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.19806	2.12;2.12	5.07	-1.43	0.08884	.	0.327983	0.26352	N	0.024871	T	0.32102	0.0818	L	0.57536	1.79	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	P;P	0.62885	0.908;0.908	T	0.09751	-1.0660	10	0.87932	D	0	-23.8034	8.5072	0.33195	0.0:0.1342:0.2693:0.5965	.	440;504	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	W	504;440	ENSP00000252597:R504W;ENSP00000407902:R440W	ENSP00000252597:R504W	R	-	1	2	USHBP1	17227376	0.024000	0.19004	0.015000	0.15790	0.015000	0.08874	0.607000	0.24209	0.153000	0.19213	-0.122000	0.15005	CGG		0.647	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		A	17366376	G	A	17366376	3	1	111	1	0	0	0	0	1	0	0	0	17034	1086	38	1	617	1	USHBP1	19	17366376	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	6922228	17366376	41762607	61	7572											
DUXA	503835	broad.mit.edu	37	chr19	57669765	57669766	+	Frame_Shift_Ins	INS	-	-	T																															aatcaatcccaggatatgggINStttttcataaatgccttgat																										TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:57669765_57669766insT	ENST00000554048.2	-	4	367_368	c.368_369insA	c.(367-369)aacfs	p.N123fs		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CAGGATATGGGTTTTTCATAAA	0.47																																						uc002qoa.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(367-369)aacfs		Homo sapiens double homeobox A (DUXA), mRNA.																																				SO:0001589	frameshift_variant	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57669765_57669766insT		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.369dupA	19.37:g.57669770_57669770dupT	ENSP00000452398:p.Asn123fs						p.N123fs	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	3	413_414	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	123						Frame_Shift_Ins	INS	ENST00000554048.2	37	c.368_369insA	CCDS33126.1																																																																																				0.47	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		T	57669766	-	T	57669765	7	5	111	1	0	1	1	0	0	0	0	0	4834	1252	44	0	257	0	DUXA	19	57669765	Frame_Shift_Ins	INS	-	TCGA-12-0615-01A-01D-1492-08	40303389	57669765	1459218	62	7573											
PROKR2	128674	broad.mit.edu	37	chr20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggggaagaagtcacgaaCgatggtgaaaccgtagaagg	15	5	16	5	3	1	3	1	1	0	2	1	6	1	4	1	4	2	1	1	4	6	1	rs139399061	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:5282952C>T	ENST00000217270.3	-	2	888	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_ENST00000546004.1_Missense_Mutation_p.V297I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	297					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)																												uc010zqw.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(889-891)Gtt>Att		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.		C	ILE/VAL	0,4406		0,0,2203	148	111	124		889	4.1	1	20	dbSNP_134	124	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PROKR2	NM_144773.2	29	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	297/385	5282952	10,12996	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282952C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.889G>A	20.37:g.5282952C>T	ENSP00000217270:p.Val297Ile	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	897	-			297					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.889G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375503	0.42105	0.0	0.001163	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37235	1.21;1.21	5.05	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.204797	0.42682	N	0.000680	T	0.34687	0.0906	L	0.31804	0.96	0.38139	D	0.938404	D	0.63880	0.993	P	0.51895	0.683	T	0.15780	-1.0425	10	0.33141	T	0.24	.	11.1459	0.48430	0.0:0.9089:0.0:0.0911	.	297	Q8NFJ6	PKR2_HUMAN	I	297	ENSP00000440790:V297I;ENSP00000217270:V297I	ENSP00000217270:V297I	V	-	1	0	PROKR2	5230952	0.903000	0.30736	1.000000	0.80357	0.963000	0.63663	1.584000	0.36589	1.132000	0.42129	0.655000	0.94253	GTT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5282952	C	T	5282952	3	4	111	1	0	0	0	0	1	0	0	0	12553	536	19	1	268	1	PROKR2	20	5282952	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		5282952	57742568	63	7574											
PCSK2	5126	broad.mit.edu	37	chr20	17389925	17389925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaatgccgaagcaagttaCgacttcagcagcaacgaccc	14	5	9	13	3	1	1	1	0	0	1	1	4	1	1	2	0	6	4	2	0	5	2	rs139215444		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:17389925C>T	ENST00000262545.2	+	6	876	c.561C>T	c.(559-561)taC>taT	p.Y187Y	PCSK2_ENST00000377899.1_Silent_p.Y168Y|PCSK2_ENST00000536609.1_Silent_p.Y152Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	187	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGCAAGTTACGACTTCAGCA	0.483													C|||	1	0.000199681	0	0.0014	5008	,	,		18249	0		0	False		,,,				2504	0					uc002wpm.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(559-561)taC>taT		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	,,	6,4400	11.4+/-27.6	0,6,2197	196	168	177		504,456,561	0.8	1	20	dbSNP_134	177	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	,,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,,	168/620,152/604,187/639	17389925	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17389925C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.561C>T	20.37:g.17389925C>T						PCSK2_uc002wpl.3_Silent_p.Y168Y|PCSK2_uc010zrm.2_Silent_p.Y152Y	p.Y187Y	NM_002594	NP_001188457	P16519	NEC2_HUMAN			5	915	+			187			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.561C>T	CCDS13125.1																																																																																				0.483	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17389925	C	T	17389925	2	4	111	1	0	0	0	0	0	0	0	1	11601	547	19	1		1	PCSK2	20	17389925	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	12106973	17389925	45635595	64	7575											
OPRL1	4987	broad.mit.edu	37	chr20	62729348	62729348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccttcaccctaactGccatgagtgtggatcgctat	9	10	8	14	1	1	1	1	1	0	0	2	2	1	2	4	1	3	2	4	1	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:62729348G>A	ENST00000349451.3	+	5	839	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	OPRL1_ENST00000336866.2_Missense_Mutation_p.A143T|OPRL1_ENST00000355631.4_Missense_Mutation_p.A143T	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	143					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CACCCTAACTGCCATGAGTGT	0.572																																						uc002yic.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(427-429)Gcc>Acc		Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.							212	181	192					20																	62729348		2203	4300	6503	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729348G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.427G>A	20.37:g.62729348G>A	ENSP00000336764:p.Ala143Thr					OPRL1_uc002yid.3_Missense_Mutation_p.A143T|OPRL1_uc021wgs.1_Missense_Mutation_p.A143T|OPRL1_uc002yif.4_Missense_Mutation_p.A138T	p.A143T	NM_182647	NP_872588	P41146	OPRX_HUMAN			3	846	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		143					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.427G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564692	0.45694	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.19806	2.12;2.12;2.12	5.05	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.263469	0.37053	N	0.002264	T	0.12305	0.0299	L	0.28400	0.85	0.32875	D	0.509731	B;P	0.43231	0.358;0.801	B;B	0.39971	0.152;0.315	T	0.06661	-1.0814	10	0.19590	T	0.45	.	4.8281	0.13427	0.31:0.0:0.69:0.0	.	138;143	P41146-2;P41146	.;OPRX_HUMAN	T	143	ENSP00000336843:A143T;ENSP00000347848:A143T;ENSP00000336764:A143T	ENSP00000336843:A143T	A	+	1	0	OPRL1	62199792	1.000000	0.71417	0.983000	0.44433	0.748000	0.42578	3.891000	0.56227	2.374000	0.81015	0.551000	0.68910	GCC		0.572	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		A	62729348	G	A	62729348	3	1	111	1	0	0	0	0	1	0	0	0	10886	1319	46	3	433	3	OPRL1	20	62729348	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	45339423	62729348	296172	65	7576											
TMPRSS15	5651	broad.mit.edu	37	chr21	19775931	19775931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagaagatatgcctcttttCgaccccatttttggttttga	8	17	7	9	1	1	3	0	1	1	2	2	4	1	3	3	1	1	1	3	1	3	8			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:19775931C>T	ENST00000284885.3	-	1	42	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	3						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCCTCTTTTCGACCCCATTT	0.353																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(7-9)tcG>tcA		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							121	117	118					21																	19775931		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19775931C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.9G>A	21.37:g.19775931C>T							p.S3S	NM_002772	NP_002763	P98073	ENTK_HUMAN			0	40	-			3					Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.9G>A	CCDS13571.1																																																																																				0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19775931	C	T	19775931	2	4	111	1	0	0	0	0	0	0	0	1	16243	871	31	2		2	TMPRSS15	21	19775931	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08		19775931	28353964	66	7577											
CLDN17	26285	broad.mit.edu	37	chr21	31538845	31538845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaaaagctgatactcTccactgaggcagaagggttg	13	7	11	10	0	1	3	0	2	1	1	2	3	1	3	2	2	3	3	2	2	5	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:31538845T>C	ENST00000286808.3	-	1	126	c.91A>G	c.(91-93)Aga>Gga	p.R31G		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	31					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCTGATACTCTCCACTGAGGC	0.507																																						uc011acv.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(91-93)Aga>Gga		Homo sapiens claudin 17 (CLDN17), mRNA.							70	71	71					21																	31538845		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538845T>C	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.91A>G	21.37:g.31538845T>C	ENSP00000286808:p.Arg31Gly						p.R31G	NM_012131	NP_036263	P56750	CLD17_HUMAN			0	127	-			31					Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.91A>G	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857671	0.71834	.	.	ENSG00000156282	ENST00000286808	D	0.88586	-2.4	5.04	2.59	0.31030	.	0.049983	0.85682	D	0.000000	D	0.95373	0.8498	H	0.94264	3.515	0.47123	D	0.999321	D	0.76494	0.999	D	0.79108	0.992	D	0.95145	0.8267	10	0.87932	D	0	.	11.9559	0.52981	0.0:0.0:0.275:0.725	.	31	P56750	CLD17_HUMAN	G	31	ENSP00000286808:R31G	ENSP00000286808:R31G	R	-	1	2	CLDN17	30460716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	0.447000	0.26695	0.533000	0.62120	AGA		0.507	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		C	31538845	T	C	31538845	3	2	111	1	0	0	0	0	1	0	0	0	3478	1559	54	4	587	4	CLDN17	21	31538845	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	11762914	31538845	16591050	67	7578											
MX2	4600	broad.mit.edu	37	chr21	42762561	42762561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggttccctgtaacGtggacattgccaccacggag	7	10	14	10	2	0	0	0	0	0	0	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:42762561G>C	ENST00000330714.3	+	6	986	c.802G>C	c.(802-804)Gtg>Ctg	p.V268L	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	268	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V268M(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557																																						uc002yzf.1																			1	Substitution - Missense(1)	p.V268M(2)	prostate(1)	breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(802-804)Gtg>Ctg		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							208	164	179					21																	42762561		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42762561G>C		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.802G>C	21.37:g.42762561G>C	ENSP00000333657:p.Val268Leu					MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	p.V268L	NM_002463	NP_002454	P20592	MX2_HUMAN			5	906	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	268					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.802G>C	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948676	0.73787	.	.	ENSG00000183486	ENST00000330714	D	0.97041	-4.22	3.92	2.07	0.26955	Dynamin, GTPase domain (2);	0.071683	0.56097	U	0.000038	D	0.98359	0.9455	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97948	1.0330	10	0.87932	D	0	-17.992	9.399	0.38420	0.1854:0.0:0.8146:0.0	.	268	P20592	MX2_HUMAN	L	268	ENSP00000333657:V268L	ENSP00000333657:V268L	V	+	1	0	MX2	41684431	1.000000	0.71417	0.941000	0.38009	0.952000	0.60782	3.873000	0.56093	0.389000	0.25086	-0.157000	0.13467	GTG		0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		C	42762561	G	C	42762561	3	2	111	1	0	0	0	0	1	0	0	0	9998	1145	40	5	820	5	MX2	21	42762561	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	11223716	42762561	5367334	68	7579											
CELSR1	9620	broad.mit.edu	37	chr22	46930786	46930786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcggatgctgtcaccGccagcacgtactgctgctcc	5	9	11	16	4	1	0	1	0	0	0	3	1	2	1	4	1	6	5	4	1	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr22:46930786G>A	ENST00000262738.3	-	1	2281	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A761V|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	761	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTGTCACCGCCAGCACGTA	0.602																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2281-2283)gCg>gTg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							77	55	62					22																	46930786		2200	4300	6500	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930786G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2282C>T	22.37:g.46930786G>A	ENSP00000262738:p.Ala761Val						p.A761V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	0	2282	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	761			Cadherin 5.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2282C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.828|8.828	0.939167|0.939167	0.18281|0.18281	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.01804|.	4.63;4.63|.	4.61|4.61	3.5|3.5	0.40072|0.40072	Cadherin (4);Cadherin-like (1);|.	0.285517|.	0.25774|.	U|.	0.028388|.	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.00392|0.00392	-1.555|-1.555	0.31923|0.31923	N|N	0.613189|0.613189	B|.	0.28291|.	0.206|.	B|.	0.25884|.	0.064|.	T|T	0.05419|0.05419	-1.0886|-1.0886	10|5	0.30078|.	T|.	0.28|.	.|.	15.913|15.913	0.79485|0.79485	0.0:0.1479:0.8521:0.0|0.0:0.1479:0.8521:0.0	.|.	761|.	Q9NYQ6|.	CELR1_HUMAN|.	V|W	761|136	ENSP00000262738:A761V;ENSP00000379293:A761V|.	ENSP00000262738:A761V|.	A|R	-|-	2|1	0|2	CELSR1|CELSR1	45309450|45309450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.626000|0.626000	0.37791|0.37791	6.285000|6.285000	0.72658|0.72658	2.120000|2.120000	0.65058|0.65058	0.313000|0.313000	0.20887|0.20887	GCG|CGG		0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46930786	G	A	46930786	3	1	111	1	0	0	0	0	1	0	0	0	3221	1087	38	1	6902	1	CELSR1	22	46930786	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		46930786	4373780	69	7580											
MXRA5	25878	broad.mit.edu	37	chrX	3228536	3228536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacaccaggctgggtgtcgGggtccccgcggcagagcagt	6	5	16	14	3	0	1	0	0	0	1	2	1	1	1	4	5	1	3	4	5	0	0			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:3228536G>T	ENST00000217939.6	-	7	7862	c.7708C>A	c.(7708-7710)Ccg>Acg	p.P2570T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2570	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTGTCGGGGTCCCCGCG	0.622																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7708-7710)Ccg>Acg		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							24	24	24					X																	3228536		2201	4298	6499	SO:0001583	missense	25878					extracellular region		g.chrX:3228536G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7708C>A	X.37:g.3228536G>T	ENSP00000217939:p.Pro2570Thr						p.P2570T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	7865	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2570			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7708C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598810	0.28445	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.97791	-4.54	4.05	4.05	0.47172	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	U	0.001908	D	0.99052	0.9675	H	0.95712	3.71	0.35287	D	0.781859	D	0.76494	0.999	D	0.72625	0.978	D	0.99967	1.1888	10	0.66056	D	0.02	.	15.9085	0.79450	0.0:0.0:1.0:0.0	.	2570	Q9NR99	MXRA5_HUMAN	T	2570	ENSP00000217939:P2570T	ENSP00000217939:P2570T	P	-	1	0	MXRA5	3238536	1.000000	0.71417	0.066000	0.19879	0.006000	0.05464	3.472000	0.53114	1.650000	0.50662	0.597000	0.82753	CCG		0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3228536	G	T	3228536	3	4	111	1	0	0	0	0	1	0	0	0	10003	1232	43	5	782	5	MXRA5	23	3228536	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		3228536	152042024	70	7581											
WWC3	55841	broad.mit.edu	37	chrX	10066544	10066544	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctcttctgttccggaaAgtttgtctttgatgataaaa	9	18	7	7	1	4	2	0	2	4	0	6	3	5	3	1	1	0	2	1	1	3	6			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:10066544A>T	ENST00000380861.4	+	8	1048		c.e8-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTTCCGGAAAGTTTGTCTTT	0.348																																						uc004csx.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.e8-2		Homo sapiens WWC family member 3 (WWC3), mRNA.							68	64	65					X																	10066544		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10066544A>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.658-1A>T	X.37:g.10066544A>T						WWC3_uc010nds.3_Splice_Site|WWC3_uc010ndt.3_Splice_Site	p.F220_splice	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			8	856	+			220					A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37	c.658_splice	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355864	0.41700	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	.	.	.	5.19	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3491	0.32292	0.9095:0.0:0.0905:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC3	10026544	1.000000	0.71417	0.986000	0.45419	0.542000	0.35054	4.769000	0.62300	1.733000	0.51620	0.339000	0.21740	.		0.348	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Intron	T	10066544	A	T	10066544	5	4	111	1	0	0	0	0	0	0	1	0	17410	86	3	5	682	5	WWC3	23	10066544	Splice_Site	SNP	A	TCGA-12-0615-01A-01D-1492-08	6838008	10066544	145204016	71	7582											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973596	29973596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggccttttggggagCtgcagactgtctcggccatt	7	10	14	10	1	1	1	0	0	1	1	2	2	1	2	2	4	3	3	2	4	1	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:29973596C>G	ENST00000378993.1	+	11	2423	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L584V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	584	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTTGGGGAGCTGCAGACTGT	0.507																																						uc004dby.2																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1750-1752)Ctg>Gtg		Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.							56	46	49					X																	29973596		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973596C>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1750C>G	X.37:g.29973596C>G	ENSP00000368278:p.Leu584Val						p.L584V	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	2258	+			584			Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1750C>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056592	0.55325	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.05025	3.51;3.51	5.25	5.25	0.73442	.	0.144833	0.48767	D	0.000163	T	0.14270	0.0345	M	0.70275	2.135	0.58432	D	0.999995	P	0.44946	0.846	P	0.45138	0.471	T	0.01757	-1.1280	9	.	.	.	.	17.953	0.89059	0.0:1.0:0.0:0.0	.	584	Q9NZN1	IRPL1_HUMAN	V	584	ENSP00000368278:L584V;ENSP00000305200:L584V	.	L	+	1	2	IL1RAPL1	29883517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.174000	0.68829	0.600000	0.82982	CTG		0.507	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		G	29973596	C	G	29973596	3	3	111	1	0	0	0	0	1	0	0	0	7661	796	28	5	1788	5	IL1RAPL1	23	29973596	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	19907052	29973596	125296964	72	7583											
CXorf59	286464	broad.mit.edu	37	chrX	36103484	36103484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgccaccccaaaagttttCcagacagaatgacttttcca	12	10	5	14	1	0	3	0	1	0	2	3	3	2	3	5	0	0	1	5	0	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:36103484C>T	ENST00000313548.4	+	5	656	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	157						integral component of membrane (GO:0016021)											CAAAAGTTTTCCAGACAGAAT	0.328																																						uc004ddk.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.(469-471)tCc>tTc		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							85	84	84					X																	36103484		2202	4300	6502	SO:0001583	missense	286464					integral to membrane		g.chrX:36103484C>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.470C>T	X.37:g.36103484C>T	ENSP00000324767:p.Ser157Phe						p.S157F	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	656	+			157						Missense_Mutation	SNP	ENST00000313548.4	37	c.470C>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201923	0.22121	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.41	-1.8	0.07907	.	1.560980	0.04056	N	0.305504	T	0.27798	0.0684	L	0.27053	0.805	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.27640	-1.0068	9	0.59425	D	0.04	1.3147	2.8663	0.05602	0.3486:0.3637:0.2001:0.0877	.	157	Q8N9S7	CX059_HUMAN	F	157	.	ENSP00000324767:S157F	S	+	2	0	CXorf59	36013405	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.667000	0.05274	-0.137000	0.11455	0.600000	0.82982	TCC		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		T	36103484	C	T	36103484	3	4	111	1	0	0	0	0	1	0	0	0	4115	855	30	3	484	3	CXorf59	23	36103484	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	6129888	36103484	119167076	73	7584											
TEX13A	56157	broad.mit.edu	37	chrX	104463874	104463874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaaaggcctcccagtcGgaaggcagctgaggcggaac	11	5	14	11	2	1	1	1	1	0	0	3	3	2	3	2	5	2	3	2	5	4	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:104463874G>A	ENST00000413579.1	-	5	1113	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	TEX13A_ENST00000372578.3_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L			Q9BXU3	TX13A_HUMAN	testis expressed 13A	334							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537																																						uc004ema.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(994-996)tcC>tcT		Homo sapiens testis expressed 13A (TEX13A), mRNA.							104	99	100					X																	104463874		2150	4248	6398	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104463874G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1002C>T	X.37:g.104463874G>A						IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.P335L	p.S332S	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			3	1108	-			334					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.996C>T		.	.	.	.	.	.	.	.	.	.	G	9.010	0.982250	0.18889	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	3.01	1.16	0.20824	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36744	-0.9735	5	0.87932	D	0	.	3.0504	0.06167	0.1549:0.0:0.5797:0.2653	.	.	.	.	L	335	.	ENSP00000361656:P335L	P	-	2	0	TEX13A	104350530	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	1.052000	0.30429	0.174000	0.19809	-0.776000	0.03382	CCG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104463874	G	A	104463874	2	1	111	1	0	0	0	0	0	0	0	1	15773	1116	39	2		2	TEX13A	23	104463874	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	68360390	104463874	50806686	74	7585											
ODZ1	10178	broad.mit.edu	37	chrX	123514489	123514489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacaaaatacccatcgtaaCcttgtacccgcccagtgctc	13	8	5	15	2	0	0	0	0	0	0	2	0	0	0	4	0	5	3	4	0	6	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:123514489C>A	ENST00000371130.3	-	31	8138	c.8075G>T	c.(8074-8076)gGt>gTt	p.G2692V	TENM1_ENST00000422452.2_Missense_Mutation_p.G2699V|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2692					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCATCGTAACCTTGTACCCG	0.463																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(8095-8097)gGt>gTt		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							168	158	162					X																	123514489		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514489C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8075G>T	X.37:g.123514489C>A	ENSP00000360171:p.Gly2692Val					ODZ1_uc011muj.2_Missense_Mutation_p.G2698V|ODZ1_uc004euj.3_Missense_Mutation_p.G2692V	p.G2699V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			31	8160	-			2692					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8096G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642976	0.67244	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87491	-2.26;-2.23	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.995	D	0.94217	0.7464	10	0.87932	D	0	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	2698;2699;2692	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2692;2699	ENSP00000360171:G2692V;ENSP00000403954:G2699V	ENSP00000360171:G2692V	G	-	2	0	ODZ1	123342170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GGT		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123514489	C	A	123514489	3	1	111	1	0	0	0	0	1	0	0	0	10834	507	18	5	106	5	ODZ1	23	123514489	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	19050615	123514489	31756071	75	7586											
PDZD4	57595	broad.mit.edu	37	chrX	153069052	153069052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccgcttccgctgctcaCgggcccggatcaggtgctgc	3	7	14	17	6	2	0	2	0	0	0	3	1	3	1	3	3	3	4	3	3	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:153069052C>T	ENST00000164640.4	-	8	2257	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	PDZD4_ENST00000544474.1_Missense_Mutation_p.R580H|PDZD4_ENST00000393758.2_Missense_Mutation_p.R614H|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	689						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTGCTCACGGGCCCGGAT	0.647																																						uc004fja.1																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(2083-2085)cGt>cAt		Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.							83	73	77					X																	153069052		2203	4300	6503	SO:0001583	missense	57595					cell cortex		g.chrX:153069052C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.2066G>A	X.37:g.153069052C>T	ENSP00000164640:p.Arg689His					PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fiz.1_Missense_Mutation_p.R689H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H|PDZD4_uc022chy.1_Missense_Mutation_p.R68H	p.R695H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			7	2334	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		689					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.2084G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208495	0.39003	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.42513	0.97;0.97;0.97	5.54	3.74	0.42951	.	0.059306	0.64402	D	0.000002	T	0.60741	0.2292	M	0.76328	2.33	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.978;0.999;0.999;0.972	T	0.60469	-0.7257	10	0.87932	D	0	-23.9986	8.7052	0.34349	0.1512:0.7666:0.0:0.0822	.	580;695;689;614;593	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	H	689;614;593;580	ENSP00000164640:R689H;ENSP00000377355:R614H;ENSP00000442033:R580H	ENSP00000164640:R689H	R	-	2	0	PDZD4	152722246	0.019000	0.18553	0.008000	0.14137	0.144000	0.21451	1.662000	0.37418	0.496000	0.27904	0.436000	0.28706	CGT		0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		T	153069052	C	T	153069052	3	4	111	1	0	0	0	0	1	0	0	0	11703	536	19	1	247	1	PDZD4	23	153069052	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	29554563	153069052	2201508	76	7587											
HSPG2	3339	broad.mit.edu	37	chr1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacactggggttacccaCgtaacctgggccacacctgt	8	9	10	14	1	0	0	0	0	0	0	0	0	0	0	4	3	3	3	4	3	2	3	rs143523507		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:22186712C>T	ENST00000374695.3	-	40	5051	c.4972G>A	c.(4972-4974)Gtg>Atg	p.V1658M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1658	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		17245	0		0	False		,,,				2504	0					uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(4975-4977)Gtg>Atg		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)	C	MET/VAL	8,4398	14.3+/-33.2	0,8,2195	37	35	36		4972	2.6	0.9	1	dbSNP_134	36	0,8600		0,0,4300	yes	missense	HSPG2	NM_005529.5	21	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging	1658/4392	22186712	8,12998	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22186712C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4972G>A	1.37:g.22186712C>T	ENSP00000363827:p.Val1658Met					HSPG2_uc001bfj.3_Missense_Mutation_p.V1658M	p.V1659M	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	39	5015	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1658			Laminin EGF-like 11.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4975G>A	CCDS30625.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.39	3.108568	0.56291	0.001816	0.0	ENSG00000142798	ENST00000374695	T	0.62498	0.02	4.49	2.58	0.30949	EGF-like, laminin (4);	0.626450	0.12358	U	0.475905	T	0.58250	0.2109	L	0.38838	1.175	0.22675	N	0.998866	D	0.54772	0.968	P	0.52189	0.692	T	0.45659	-0.9246	10	0.48119	T	0.1	.	6.5211	0.22275	0.0:0.7:0.0:0.3	.	1658	P98160	PGBM_HUMAN	M	1658	ENSP00000363827:V1658M	ENSP00000363827:V1658M	V	-	1	0	HSPG2	22059299	0.254000	0.23992	0.894000	0.35097	0.988000	0.76386	0.770000	0.26618	1.101000	0.41535	0.591000	0.81541	GTG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22186712	C	T	22186712	3	4	112	1	0	0	0	0	1	0	0	0	7430	536	19	1	8435	1	HSPG2	1	22186712	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08		22186712	227063909	1	7588											
C1orf130	400746	broad.mit.edu	37	chr1	24927454	24927454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagccattgttgctgccGttgtggtggttgtcatcatc	4	15	13	9	1	2	0	2	0	0	0	3	1	2	1	2	3	3	4	2	3	0	4	rs142867139	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:24927454G>A	ENST00000374392.2	+	3	172	c.106G>A	c.(106-108)Gtt>Att	p.V36I	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	36	Poly-Val.				peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										TGTTGCTGCCGTTGTGGTGGT	0.552													G|||	2	0.000399361	0	0.0029	5008	,	,		21312	0		0	False		,,,				2504	0					uc001bjk.2																			0				large_intestine(1)	1						c.(106-108)Gtt>Att		Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	263	206	225		106	-0.6	1	1	dbSNP_134	225	13,8587	10.5+/-38.8	0,13,4287	yes	missense	C1orf130	NM_001010980.4	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	36/103	24927454	17,12989	2203	4300	6503	SO:0001583	missense	400746					integral to membrane		g.chr1:24927454G>A	AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"myelin protein of 11 kDa"		"chromosome 1 open reading frame 130"	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.106G>A	1.37:g.24927454G>A	ENSP00000363513:p.Val36Ile						p.V36I	NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)	2	207	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)	36			Poly-Val.		A0PK04|B2RV34	Missense_Mutation	SNP	ENST00000374392.2	37	c.106G>A	CCDS30632.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	2.468	-0.322616	0.05350	9.08E-4	0.001512	ENSG00000184454	ENST00000374392	.	.	.	5.64	-0.586	0.11694	.	0.311073	0.32769	N	0.005679	T	0.11281	0.0275	N	0.03050	-0.425	0.21740	N	0.999565	B	0.02656	0.0	B	0.04013	0.001	T	0.36768	-0.9734	9	0.02654	T	1	-10.3115	9.7844	0.40666	0.5958:0.0:0.4042:0.0	.	36	Q5T1S8	CA130_HUMAN	I	36	.	ENSP00000363513:V36I	V	+	1	0	C1orf130	24800041	0.947000	0.32204	0.990000	0.47175	0.622000	0.37654	0.138000	0.16016	-0.050000	0.13356	-0.469000	0.05056	GTT		0.552	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009288.2	NM_001010980		A	24927454	G	A	24927454	3	1	112	1	0	0	0	0	1	0	0	0	1997	1145	40	1	112	1	C1orf130	1	24927454	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	2740742	24927454	224323167	2	7589											
TTC39A	22996	broad.mit.edu	37	chr1	51768762	51768762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtacacctaccgagcaCgaaggtgaggaaggtgtggt	10	7	14	10	2	0	1	0	1	0	0	0	4	0	2	3	4	3	2	3	4	4	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:51768762C>T	ENST00000447632.2	-	9	913	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TTC39A_ENST00000262675.7_Missense_Mutation_p.V226M|TTC39A_ENST00000371750.5_Missense_Mutation_p.V254M|TTC39A_ENST00000262676.5_Missense_Mutation_p.V285M|TTC39A_ENST00000451380.1_Missense_Mutation_p.V253M|TTC39A_ENST00000413473.2_Missense_Mutation_p.V257M|TTC39A_ENST00000371747.3_Missense_Mutation_p.V288M			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	289								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTACCGAGCACGAAGGTGAGG	0.627																																						uc001csl.3																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						c.(865-867)Gtg>Atg		Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.							22	27	25					1																	51768762		2066	4214	6280	SO:0001583	missense	22996						binding	g.chr1:51768762C>T	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.865G>A	1.37:g.51768762C>T	ENSP00000393952:p.Val289Met					TTC39A_uc001csk.3_Missense_Mutation_p.V254M|TTC39A_uc010ond.2_Missense_Mutation_p.V226M|TTC39A_uc010one.2_Missense_Mutation_p.V253M|TTC39A_uc010onf.2_Missense_Mutation_p.V257M|TTC39A_uc001csn.3_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	p.V289M	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			8	970	-			289					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	C	16.75	3.208239	0.58343	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.15	4.17	0.49024	.	0.123818	0.53938	D	0.000044	T	0.55033	0.1895	L	0.37850	1.14	0.47949	D	0.999551	B;B;D;D;D;P;D	0.76494	0.358;0.41;0.983;0.999;0.983;0.665;0.978	B;B;P;D;P;B;P	0.65573	0.203;0.305;0.843;0.936;0.843;0.225;0.757	T	0.49204	-0.8964	10	0.32370	T	0.25	-24.454	14.5346	0.67950	0.0:0.853:0.147:0.0	.	257;253;226;285;253;289;254	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	M	289;257;226;253;254;288;285;226;253;226	ENSP00000393952:V289M;ENSP00000406144:V257M;ENSP00000262675:V226M;ENSP00000397207:V253M;ENSP00000360815:V254M;ENSP00000360812:V288M;ENSP00000262676:V285M;ENSP00000408532:V226M;ENSP00000405803:V253M;ENSP00000388995:V226M	ENSP00000262675:V226M	V	-	1	0	TTC39A	51541350	0.999000	0.42202	0.990000	0.47175	0.933000	0.57130	3.719000	0.54926	2.584000	0.87258	0.561000	0.74099	GTG		0.627	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			T	51768762	C	T	51768762	3	4	112	1	0	0	0	0	1	0	0	0	16704	536	19	1	1016	1	TTC39A	1	51768762	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	26841308	51768762	197481859	3	7590											
DMRTB1	63948	broad.mit.edu	37	chr1	53932300	53932300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggtactgtcgggtgagCccagccagccatcgtctcag	8	7	13	13	2	1	2	1	1	1	1	4	2	1	2	3	2	4	1	3	2	1	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:53932300C>G	ENST00000371445.3	+	4	1049	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	332					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTCGGGTGAGCCCAGCCAGCC	0.552																																						uc001cvq.1																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(994-996)Ccc>Gcc		Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.							146	158	154					1																	53932300		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53932300C>G	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.994C>G	1.37:g.53932300C>G	ENSP00000360500:p.Pro332Ala						p.P332A	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			3	1049	+			332					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.994C>G	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246128	0.39697	.	.	ENSG00000143006	ENST00000371445	T	0.28069	1.63	4.73	3.7	0.42460	.	0.772604	0.11664	N	0.541553	T	0.29524	0.0736	M	0.67953	2.075	0.30580	N	0.762649	P	0.48834	0.916	B	0.38842	0.283	T	0.27673	-1.0067	10	0.37606	T	0.19	-13.7722	8.6534	0.34049	0.0:0.8846:0.0:0.1154	.	332	Q96MA1	DMRTB_HUMAN	A	332	ENSP00000360500:P332A	ENSP00000360500:P332A	P	+	1	0	DMRTB1	53704888	0.978000	0.34361	0.996000	0.52242	0.875000	0.50365	-0.127000	0.10547	1.194000	0.43101	0.561000	0.74099	CCC		0.552	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			G	53932300	C	G	53932300	3	3	112	1	0	0	0	0	1	0	0	0	4590	739	26	5	1008	5	DMRTB1	1	53932300	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	2163538	53932300	195318321	4	7591											
SFRS11	9295	broad.mit.edu	37	chr1	70703140	70703140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctggtctcgtttcacCaagtctgaaatcggatacct	9	12	9	11	2	3	1	1	1	2	0	5	2	3	2	2	2	3	3	2	2	3	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:70703140C>G	ENST00000370950.3	+	7	705	c.623C>G	c.(622-624)cCa>cGa	p.P208R	SRSF11_ENST00000405432.1_Missense_Mutation_p.P208R|SRSF11_ENST00000370951.1_Missense_Mutation_p.P208R|SRSF11_ENST00000370949.1_Missense_Mutation_p.P148R|SRSF11_ENST00000436161.2_3'UTR|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	208					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						CTCGTTTCACCAAGTCTGAAA	0.378																																						uc001des.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(622-624)cCa>cGa		Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.							105	103	104					1																	70703140		2203	4300	6503	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70703140C>G	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.623C>G	1.37:g.70703140C>G	ENSP00000359988:p.Pro208Arg					SRSF11_uc001det.3_Missense_Mutation_p.P208R|SRSF11_uc001deu.2_Missense_Mutation_p.P208R|SRSF11_uc001dev.3_Missense_Mutation_p.P18R|SRSF11_uc001dew.3_Missense_Mutation_p.P148R	p.P208R	NM_004768	NP_004759	Q05519	SRS11_HUMAN			6	747	+			208					Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.623C>G	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523310	0.64747	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T	0.83591	-1.74;-1.74;-1.74;2.22	5.61	5.61	0.85477	.	0.096864	0.64402	D	0.000001	D	0.87928	0.6301	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.60575	0.982;0.988;0.988;0.988	P;P;P;P	0.57911	0.829;0.758;0.758;0.758	D	0.88748	0.3248	10	0.87932	D	0	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	148;208;208;208	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	R	208;208;208;208;148	ENSP00000359989:P208R;ENSP00000359988:P208R;ENSP00000384357:P208R;ENSP00000359987:P148R	ENSP00000359987:P148R	P	+	2	0	SRSF11	70475728	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.857000	0.62939	2.631000	0.89168	0.655000	0.94253	CCA		0.378	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		G	70703140	C	G	70703140	3	3	112	1	0	0	0	0	1	0	0	0	14166	594	21	5	645	5	SFRS11	1	70703140	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	16770840	70703140	178547481	5	7592											
S100A7A	338324	broad.mit.edu	37	chr1	153391728	153391728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctgggagacatagcCgcagactaccacaagcagag	12	6	11	12	1	0	3	0	0	0	3	1	4	1	3	3	1	4	3	3	1	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:153391728C>T	ENST00000368729.4	+	3	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A	S100A7A_ENST00000329256.2_Silent_p.A83A|S100A7A_ENST00000368728.2_Silent_p.A83A	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A83A(2)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522																																						uc001fbt.1																			2	Substitution - coding silent(2)	p.A83A(4)	prostate(1)|endometrium(1)	cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(247-249)gcC>gcT		Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.							84	79	81					1																	153391728		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391728C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.249C>T	1.37:g.153391728C>T							p.A83A	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	306	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		83			EF-hand 2.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.249C>T	CCDS30872.1																																																																																				0.522	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		T	153391728	C	T	153391728	2	4	112	1	0	0	0	0	0	0	0	1	13784	639	23	2		2	S100A7A	1	153391728	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	82688588	153391728	95858893	6	7593											
FDPS	2224	broad.mit.edu	37	chr1	155287783	155287783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggattcatcccttaccCgccggggacagatctgctgg	7	10	11	13	2	3	1	2	0	1	1	4	3	4	3	3	4	2	1	3	4	1	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:155287783C>T	ENST00000356657.6	+	5	694	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	FDPS_ENST00000368356.4_Missense_Mutation_p.R178C|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.R112C|RUSC1-AS1_ENST00000450199.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	178					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATCCCTTACCCGCCGGGGACA	0.512																																						uc001fkc.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(532-534)Cgc>Tgc		Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						86	79	81					1																	155287783		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155287783C>T	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.532C>T	1.37:g.155287783C>T	ENSP00000349078:p.Arg178Cys					FDPS_uc021paw.1_Missense_Mutation_p.R112C|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc021pax.1_Missense_Mutation_p.R7C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	p.R178C	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		4	751	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		178					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.532C>T	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612237	0.46631	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	D;D;D	0.89196	-2.48;-2.48;-2.48	3.62	3.62	0.41486	Terpenoid synthase (2);	0.000000	0.36444	N	0.002592	D	0.91737	0.7387	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.92422	0.5946	10	0.87932	D	0	-0.6534	13.2354	0.59967	0.0:1.0:0.0:0.0	.	178	P14324	FPPS_HUMAN	C	112;178;178	ENSP00000391755:R112C;ENSP00000357340:R178C;ENSP00000349078:R178C	ENSP00000349078:R178C	R	+	1	0	FDPS	153554407	0.998000	0.40836	1.000000	0.80357	0.359000	0.29487	3.567000	0.53813	2.331000	0.79229	0.467000	0.42956	CGC		0.512	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		T	155287783	C	T	155287783	3	4	112	1	0	0	0	0	1	0	0	0	5803	652	23	2	546	2	FDPS	1	155287783	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	1896055	155287783	93962838	7	7594											
ADCY10	55811	broad.mit.edu	37	chr1	167806486	167806486	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaatgatatatgcctctaCctgcgattttcaggaaaaaa	16	11	6	8	1	2	1	1	1	1	0	2	3	2	2	2	1	4	0	2	1	8	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:167806486C>T	ENST00000367851.4	-	22	3262		c.e22+1		ADCY10_ENST00000367848.1_Splice_Site|ADCY10_ENST00000545172.1_Splice_Site	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)						cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TATGCCTCTACCTGCGATTTT	0.348																																						uc001ger.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.e22+1		Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.							97	99	98					1																	167806486		2203	4300	6503	SO:0001630	splice_region_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167806486C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3077+1G>A	1.37:g.167806486C>T						ADCY10_uc010plj.2_Splice_Site_p.S873_splice|ADCY10_uc009wvk.3_Splice_Site_p.S934_splice	p.S1026_splice	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN			22	3375	-			1026					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Splice_Site	SNP	ENST00000367851.4	37	c.3077_splice	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166816	0.21621	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6692	0.62414	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCY10	166073110	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	3.017000	0.49615	2.677000	0.91161	0.563000	0.77884	.		0.348	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	Intron	T	167806486	C	T	167806486	5	4	112	1	0	0	0	0	0	0	1	0	293	521	18	3	1802	3	ADCY10	1	167806486	Splice_Site	SNP	C	TCGA-12-0616-01A-01D-1492-08	12518703	167806486	81444135	8	7595											
TMEM63A	9725	broad.mit.edu	37	chr1	226040425	226040425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgacagtgaagacacacaGcatccatgcatacatggctc	14	7	9	11	0	0	3	0	2	0	1	2	4	1	3	1	1	3	3	1	1	2	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:226040425G>A	ENST00000366835.3	-	20	2113	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	615					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AAGACACACAGCATCCATGCA	0.552																																						uc001hpm.2																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1843-1845)Ctg>Ttg		Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.							198	123	148					1																	226040425		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226040425G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1843C>T	1.37:g.226040425G>A							p.L615L	NM_014698	NP_055513	O94886	TM63A_HUMAN			19	2465	-	Breast(184;0.197)		615					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1843C>T	CCDS31042.1																																																																																				0.552	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		A	226040425	G	A	226040425	2	1	112	1	0	0	0	0	0	0	0	1	16187	962	34	3		3	TMEM63A	1	226040425	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	58233939	226040425	23210196	9	7596											
VIT	5212	broad.mit.edu	37	chr2	37035618	37035618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctgtcttctaggccGtgtgcagaacaaacggcttc	7	11	9	14	2	3	1	0	0	3	1	5	1	4	1	3	2	3	2	3	2	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:37035618G>A	ENST00000389975.3	+	14	1650	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	VIT_ENST00000497382.1_Missense_Mutation_p.V119M|VIT_ENST00000379241.3_Missense_Mutation_p.V428M|VIT_ENST00000401530.1_Missense_Mutation_p.V429M|VIT_ENST00000379242.3_Missense_Mutation_p.V465M|VIT_ENST00000404084.1_Missense_Mutation_p.V402M	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	450	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTTCTAGGCCGTGTGCAGAAC	0.602																																						uc002rpl.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1393-1395)Gtg>Atg		Homo sapiens vitrin (VIT), transcript variant 1, mRNA.							30	26	27					2																	37035618		2202	4297	6499	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035618G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1348G>A	2.37:g.37035618G>A	ENSP00000374625:p.Val450Met					VIT_uc002rpm.3_Missense_Mutation_p.V450M|VIT_uc010ezv.3_Missense_Mutation_p.V428M|VIT_uc010ezw.3_Missense_Mutation_p.V429M	p.V465M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			14	1695	+		all_hematologic(82;0.248)	450			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1393G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996992	0.74818	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.55930	0.49;0.49;1.1;0.49;0.49;1.1	5.26	4.39	0.52855	von Willebrand factor, type A (2);	0.057248	0.64402	N	0.000001	T	0.71290	0.3322	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74878	-0.3514	10	0.66056	D	0.02	-8.4043	13.8077	0.63243	0.0736:0.0:0.9264:0.0	.	429;428;450;465	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	M	465;450;119;402;428;429	ENSP00000368544:V465M;ENSP00000374625:V450M;ENSP00000417874:V119M;ENSP00000384154:V402M;ENSP00000368543:V428M;ENSP00000385658:V429M	ENSP00000368543:V428M	V	+	1	0	VIT	36889122	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	9.827000	0.99397	1.228000	0.43614	0.555000	0.69702	GTG		0.602	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				A	37035618	G	A	37035618	3	1	112	1	0	0	0	0	1	0	0	0	17168	1145	40	1	1572	1	VIT	2	37035618	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		37035618	206163755	10	7597											
NCKAP5	344148	broad.mit.edu	37	chr2	133541700	133541700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatggcaggccttgaccgtGaccctggagtctgactcttg	7	10	12	12	1	2	3	0	3	2	0	2	4	2	4	3	3	0	1	3	3	1	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:133541700G>A	ENST00000409261.1	-	14	3057	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S895L|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	895										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTTGACCGTGACCCTGGAGT	0.607																																						uc002ttp.3																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2683-2685)tCa>tTa		Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.							46	49	48					2																	133541700		1969	4145	6114	SO:0001583	missense	344148						protein binding	g.chr2:133541700G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2684C>T	2.37:g.133541700G>A	ENSP00000387128:p.Ser895Leu					NCKAP5_uc002ttq.3_Intron	p.S895L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			13	3058	-			895					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2684C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	2.541	-0.306366	0.05458	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09630	2.96;2.96	4.92	3.1	0.35709	.	0.908121	0.08909	N	0.876146	T	0.06280	0.0162	N	0.11560	0.145	0.32081	N	0.593089	B	0.14438	0.01	B	0.13407	0.009	T	0.34875	-0.9811	10	0.19147	T	0.46	.	9.065	0.36458	0.1715:0.0:0.8285:0.0	.	895	O14513	NCKP5_HUMAN	L	895	ENSP00000387128:S895L;ENSP00000380603:S895L	ENSP00000380603:S895L	S	-	2	0	NCKAP5	133258170	1.000000	0.71417	0.004000	0.12327	0.007000	0.05969	4.935000	0.63498	0.661000	0.30985	0.645000	0.84053	TCA		0.607	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133541700	G	A	133541700	3	1	112	1	0	0	0	0	1	0	0	0	10223	1294	45	3	3073	3	NCKAP5	2	133541700	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	96506082	133541700	109657673	11	7598											
NEB	4703	broad.mit.edu	37	chr2	152477436	152477436	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgatcagctcttacatcActggcaatatcccgagaggc	11	10	8	12	1	3	2	2	1	1	1	4	3	4	2	1	2	2	2	1	2	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:152477436A>G	ENST00000172853.10	-	68	9975	c.9828T>C	c.(9826-9828)agT>agC	p.S3276S	NEB_ENST00000427231.2_Silent_p.S3519S|NEB_ENST00000409198.1_Silent_p.S3276S|NEB_ENST00000397345.3_Silent_p.S3519S|NEB_ENST00000604864.1_Silent_p.S3519S|NEB_ENST00000603639.1_Silent_p.S3519S			P20929	NEBU_HUMAN	nebulin	3276					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTACATCACTGGCAATAT	0.473																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9826-9828)agT>agC		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.							80	81	81					2																	152477436		1987	4168	6155	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152477436A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9828T>C	2.37:g.152477436A>G						NEB_uc002txu.3_Silent_p.S3519S|NEB_uc021vrc.1_Silent_p.S3519S|NEB_uc010fnx.3_Silent_p.S3264S|NEB_uc021vrd.1_Silent_p.S3276S	p.S3276S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	66	9857	-			3276					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.9828T>C																																																																																					0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152477436	A	G	152477436	2	3	112	1	0	0	0	0	0	0	0	1	10302	156	6	4		4	NEB	2	152477436	Silent	SNP	A	TCGA-12-0616-01A-01D-1492-08	18935736	152477436	90721937	12	7599											
GAD1	2571	broad.mit.edu	37	chr2	171705817	171705817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggggaggtgggctgCtcatgtccaggaagcaccgc	6	7	16	12	1	1	0	1	0	0	0	2	2	2	2	3	5	3	3	3	5	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:171705817C>T	ENST00000358196.3	+	12	1691	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	381					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AGGTGGGCTGCTCATGTCCAG	0.532																																						uc002ugi.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(1141-1143)Ctc>Ttc		Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						76	67	70					2																	171705817		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171705817C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1141C>T	2.37:g.171705817C>T	ENSP00000350928:p.Leu381Phe					GAD1_uc010fqc.3_5'UTR	p.L381F	NM_000817	NP_000808	Q99259	DCE1_HUMAN			11	1563	+			381					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1141C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214556	0.58452	.	.	ENSG00000128683	ENST00000358196	T	0.37411	1.2	5.76	4.9	0.64082	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.057306	0.64402	N	0.000002	T	0.55721	0.1938	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58945	-0.7546	10	0.87932	D	0	-14.6782	11.7542	0.51866	0.0:0.8486:0.0:0.1514	.	381	Q99259	DCE1_HUMAN	F	381	ENSP00000350928:L381F	ENSP00000350928:L381F	L	+	1	0	GAD1	171414063	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.634000	0.54302	1.439000	0.47511	-0.126000	0.14955	CTC		0.532	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			T	171705817	C	T	171705817	3	4	112	1	0	0	0	0	1	0	0	0	6179	797	28	3	1224	3	GAD1	2	171705817	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	19228381	171705817	71493556	13	7600											
DNAH1	25981	broad.mit.edu	37	chr3	52409985	52409986	+	Frame_Shift_Ins	INS	-	-	A																															tctagatggactccttggagINSaaaaaagctaccgggagcgt																										TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:52409985_52409986insA	ENST00000420323.2	+	46	7435_7436	c.7174_7175insA	c.(7174-7176)gaafs	p.E2392fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2392	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTCCTTGGAGAAAAAAGCTAC	0.609																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7174-7176)gaafs		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.																																				SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52409985_52409986insA	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7180dupA	3.37:g.52409991_52409991dupA	ENSP00000401514:p.Glu2392fs						p.E2392fs	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	45	7435_7436	+			2392			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Ins	INS	ENST00000420323.2	37	c.7174_7175insA	CCDS46842.1																																																																																				0.609	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52409986	-	A	52409985	7	5	112	1	0	1	1	0	0	0	0	0	4597	943	33	0	7352	0	DNAH1	3	52409985	Frame_Shift_Ins	INS	-	TCGA-12-0616-01A-01D-1492-08		52409985	145612445	14	7601											
CASR	846	broad.mit.edu	37	chr3	121980782	121980782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagcgaggcctgggcCagctcctccctgatcgccat	5	7	12	17	2	0	1	0	1	0	0	3	2	2	1	6	3	2	1	6	3	0	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:121980782C>T	ENST00000490131.1	+	4	1272	c.900C>T	c.(898-900)gcC>gcT	p.A300A	CASR_ENST00000498619.1_Silent_p.A300A|CASR_ENST00000296154.5_Silent_p.A300A	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	300					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGCCTGGGCCAGCTCCTCCC	0.602																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(898-900)gcC>gcT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						59	55	56					3																	121980782		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980782C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.900C>T	3.37:g.121980782C>T						CASR_uc003eev.4_Silent_p.A300A	p.A300A	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	1338	+			300					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.900C>T	CCDS3010.1																																																																																				0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	121980782	C	T	121980782	2	4	112	1	0	0	0	0	0	0	0	1	2682	581	21	3		3	CASR	3	121980782	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	69570797	121980782	76041648	15	7602											
FRYL	285527	broad.mit.edu	37	chr4	48559631	48559631	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgctgtggggagaggttTtaagtccaccagctcgatgt	7	12	13	9	1	0	1	0	0	0	1	2	3	1	1	3	3	2	3	3	3	1	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:48559631T>G	ENST00000503238.1	-	31	3963	c.3964A>C	c.(3964-3966)Aaa>Caa	p.K1322Q	FRYL_ENST00000507711.1_Missense_Mutation_p.K1322Q|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.K1322Q|FRYL_ENST00000537810.1_Missense_Mutation_p.K1322Q|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGAGAGGTTTTAAGTCCACC	0.512																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3964-3966)Aaa>Caa		Homo sapiens FRY-like (FRYL), mRNA.							176	174	175					4																	48559631		2023	4194	6217	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559631T>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3964A>C	4.37:g.48559631T>G	ENSP00000426064:p.Lys1322Gln					FRYL_uc003gyk.3_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	p.K1322Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			33	4569	-			1322					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3964A>C	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.009|9.009	0.982001|0.982001	0.18812|0.18812	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.45276|.	1.88;1.88;1.88;0.9|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Armadillo-type fold (1);|.	0.089284|0.089284	0.85682|0.85682	N|D	0.000000|0.000000	T|T	0.50616|0.50616	0.1626|0.1626	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.37914|.	0.611;0.001;0.0;0.0|.	B;B;B;B|.	0.40444|.	0.329;0.007;0.004;0.007|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|6	0.17832|.	T|.	0.49|.	.|.	16.2874|16.2874	0.82727|0.82727	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1322;153;1322;1322|.	F2Z2S2;Q6ZR29;O94915;F5GX82|.	.;.;FRYL_HUMAN;.|.	Q|T	1322|192	ENSP00000426064:K1322Q;ENSP00000351113:K1322Q;ENSP00000441114:K1322Q;ENSP00000421584:K1322Q|.	ENSP00000351113:K1322Q|.	K|K	-|-	1|2	0|0	FRYL|FRYL	48254388|48254388	1.000000|1.000000	0.71417|0.71417	0.012000|0.012000	0.15200|0.15200	0.003000|0.003000	0.03518|0.03518	5.119000|5.119000	0.64679|0.64679	2.235000|2.235000	0.73313|0.73313	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.512	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			G	48559631	T	G	48559631	3	3	112	1	0	0	0	0	1	0	0	0	6064	1850	64	5	5201	5	FRYL	4	48559631	Missense_Mutation	SNP	T	TCGA-12-0616-01A-01D-1492-08		48559631	142594645	16	7603											
KIT	3815	broad.mit.edu	37	chr4	55592080	55592080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaactcatctgggccaccGtttggaaagctagtggttca	10	11	10	10	1	3	0	2	0	1	0	3	1	3	1	2	3	2	3	2	3	4	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:55592080G>A	ENST00000288135.5	+	9	1501	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	468	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P468P(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCACCGTTTGGAAAGC	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		1	Substitution - coding silent(1)	p.(449_514)?(42)|p.P468P(2)|p.P468L(1)	central_nervous_system(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1402-1404)ccG>ccA		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						111	101	104					4																	55592080		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55592080G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1404G>A	4.37:g.55592080G>A						KIT_uc010igs.3_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.2_5'Flank	p.P468P	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	8	1491	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		468			Ig-like C2-type 5.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.1404G>A	CCDS3496.1																																																																																				0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55592080	G	A	55592080	2	1	112	1	0	0	0	0	0	0	0	1	8329	1132	40	1		1	KIT	4	55592080	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	7032449	55592080	135562196	17	7604											
GPR98	84059	broad.mit.edu	37	chr5	90136528	90136528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtattggatgtcatcctaaCgccagagacaggatctttaa	12	12	9	8	1	2	1	1	0	1	1	3	4	3	3	2	2	1	1	2	2	3	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:90136528C>T	ENST00000405460.2	+	78	16841	c.16745C>T	c.(16744-16746)aCg>aTg	p.T5582M	GPR98_ENST00000425867.2_Missense_Mutation_p.T1243M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5582					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCATCCTAACGCCAGAGACA	0.423																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(16744-16746)aCg>aTg		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							193	187	189					5																	90136528		1890	4118	6008	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136528C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16745C>T	5.37:g.90136528C>T	ENSP00000384582:p.Thr5582Met					GPR98_uc003kjt.3_Missense_Mutation_p.T3288M|GPR98_uc003kjw.3_Missense_Mutation_p.T1243M	p.T5582M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	77	16841	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5582					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16745C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017669	0.75161	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27890	1.64;1.64	6.16	5.3	0.74995	.	0.141811	0.64402	N	0.000004	T	0.39036	0.1063	M	0.66939	2.045	0.58432	D	0.999999	P;D;D	0.54772	0.941;0.968;0.965	B;B;P	0.46076	0.306;0.254;0.503	T	0.29671	-1.0004	9	.	.	.	.	15.3585	0.74448	0.0:0.9339:0.0:0.0661	.	1243;5582;1243	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	5582;5582;1243	ENSP00000384582:T5582M;ENSP00000392618:T1243M	.	T	+	2	0	GPR98	90172284	1.000000	0.71417	0.134000	0.22075	0.972000	0.66771	5.240000	0.65378	1.627000	0.50400	0.650000	0.86243	ACG		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90136528	C	T	90136528	3	4	112	1	0	0	0	0	1	0	0	0	6721	536	19	1	17055	1	GPR98	5	90136528	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08		90136528	90778732	18	7605											
OR2V2	285659	broad.mit.edu	37	chr5	180582407	180582407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgggcctttgggataatCgatggcttgatccagatggt	7	13	13	8	1	0	2	0	1	0	1	3	4	2	3	3	4	0	1	3	4	1	3	rs149585637	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:180582407C>T	ENST00000328275.1	+	1	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGATAATCGATGGCTTGA	0.493																																						uc011dhj.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(463-465)atC>atT		Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.							189	181	184					5																	180582407		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582407C>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.465C>T	5.37:g.180582407C>T							p.I155I	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		0	465	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	155					Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.465C>T	CCDS4461.1																																																																																				0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			T	180582407	C	T	180582407	2	4	112	1	0	0	0	0	0	0	0	1	11031	874	31	2		2	OR2V2	5	180582407	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	90445879	180582407	332853	19	7606											
TNXB	7148	broad.mit.edu	37	chr6	32013041	32013041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcagcactcctaggcgggGctcttcaggaggctcagggg	6	7	17	11	1	4	0	3	0	1	0	5	1	5	1	1	8	1	3	1	8	1	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:32013041G>T	ENST00000375244.3	-	32	10870	c.10669C>A	c.(10669-10671)Ccc>Acc	p.P3557T	TNXB_ENST00000375247.2_Missense_Mutation_p.P3555T|TNXB_ENST00000451343.1_5'UTR			P22105	TENX_HUMAN	tenascin XB	3602	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTAGGCGGGGCTCTTCAGGA	0.642																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10663-10665)Ccc>Acc		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							6	7	7					6																	32013041		1420	2549	3969	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32013041G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10669C>A	6.37:g.32013041G>T	ENSP00000364393:p.Pro3557Thr					TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Missense_Mutation_p.P24T	p.P3555T	NM_019105	NP_061978	P22105	TENX_HUMAN			31	10865	-			3602			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10663C>A		.	.	.	.	.	.	.	.	.	.	g	19.57	3.852150	0.71719	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59224	0.46;0.28	4.71	4.71	0.59529	.	0.121722	0.37955	N	0.001875	T	0.69797	0.3151	H	0.94345	3.525	0.19775	N	0.99995	D	0.60160	0.987	P	0.55260	0.772	T	0.68002	-0.5524	10	0.66056	D	0.02	.	12.301	0.54874	0.0:0.0:0.8299:0.17	.	3555	P22105-3	.	T	3557;3555	ENSP00000364393:P3557T;ENSP00000364396:P3555T	ENSP00000364393:P3557T	P	-	1	0	TNXB	32121019	0.987000	0.35691	0.165000	0.22776	0.536000	0.34869	3.186000	0.50942	2.456000	0.83038	0.556000	0.70494	CCC		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32013041	G	T	32013041	3	4	112	1	0	0	0	0	1	0	0	0	16343	1203	42	5	4102	5	TNXB	6	32013041	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		32013041	139102026	20	7607											
UTRN	7402	broad.mit.edu	37	chr6	145115044	145115044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttacttcatgatgccAtccagatcccccggcagcta	8	10	8	15	1	1	2	1	1	0	1	3	2	3	2	5	1	3	3	5	1	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:145115044A>G	ENST00000367545.3	+	62	8995	c.8995A>G	c.(8995-8997)Atc>Gtc	p.I2999V	UTRN_ENST00000367526.4_Missense_Mutation_p.I554V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2999	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCATGATGCCATCCAGATCCC	0.498																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8995-8997)Atc>Gtc		Homo sapiens utrophin (UTRN), mRNA.							107	103	104					6																	145115044		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145115044A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8995A>G	6.37:g.145115044A>G	ENSP00000356515:p.Ile2999Val						p.I2999V	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	61	9087	+		Ovarian(120;0.218)	2999			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8995A>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625040	0.46840	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.72051	-0.62;-0.62	5.67	5.67	0.87782	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000051	T	0.67487	0.2898	L	0.31294	0.92	0.41040	D	0.985225	P	0.37985	0.613	P	0.55545	0.778	T	0.70371	-0.4890	10	0.41790	T	0.15	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	2999	P46939	UTRO_HUMAN	V	2999;554	ENSP00000356515:I2999V;ENSP00000356496:I554V	ENSP00000356496:I554V	I	+	1	0	UTRN	145156737	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.576000	0.82467	2.169000	0.68431	0.459000	0.35465	ATC		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	145115044	A	G	145115044	3	3	112	1	0	0	0	0	1	0	0	0	17100	217	8	4	9241	4	UTRN	6	145115044	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	113102003	145115044	26000023	21	7608											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	112	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		55233043	103905620	22	7609											
PHTF2	57157	broad.mit.edu	37	chr7	77552026	77552026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcattacgtcgtcatgtGgacaggacttctgaaggtgt	9	13	11	8	2	3	1	2	1	1	0	4	3	3	3	0	3	2	0	0	3	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:77552026G>A	ENST00000248550.7	+	10	1126	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	PHTF2_ENST00000416283.2_Silent_p.V316V|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000422959.2_Silent_p.V316V|PHTF2_ENST00000415251.2_Silent_p.V312V|PHTF2_ENST00000307305.8_Silent_p.V312V|PHTF2_ENST00000450574.1_Silent_p.V316V|PHTF2_ENST00000424760.1_Silent_p.V312V|PHTF2_ENST00000275575.7_Silent_p.V312V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTCGTCATGTGGACAGGACTT	0.398																																						uc003ugs.4																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1048-1050)gtG>gtA		Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.							72	68	69					7																	77552026		1877	4100	5977	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77552026G>A	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1050G>A	7.37:g.77552026G>A						PHTF2_uc003ugo.4_Silent_p.V312V|PHTF2_uc003ugp.3_Silent_p.V312V|PHTF2_uc010ldv.3_Silent_p.V312V|PHTF2_uc003ugq.4_Silent_p.V312V|PHTF2_uc003ugr.4_Silent_p.V316V|PHTF2_uc003ugt.4_Silent_p.V316V|PHTF2_uc003ugu.4_Silent_p.V312V|PHTF2_uc022agp.1_Silent_p.V350V|PHTF2_uc003ugv.3_Silent_p.V175V|PHTF2_uc010ldw.2_Silent_p.V175V	p.V350V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			9	1176	+			350					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1050G>A																																																																																					0.398	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		A	77552026	G	A	77552026	2	1	112	1	0	0	0	0	0	0	0	1	11863	1335	47	3		3	PHTF2	7	77552026	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	22318983	77552026	81586637	23	7610											
TRRAP	8295	broad.mit.edu	37	chr7	98522846	98522846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggccatgatgagcctggagGacaacaagcacgcactctac	12	6	11	12	1	1	2	0	2	1	0	1	4	1	4	2	3	4	2	2	3	3	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:98522846G>C	ENST00000359863.4	+	22	3144	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H	TRRAP_ENST00000355540.3_Missense_Mutation_p.D979H|TRRAP_ENST00000446306.3_Missense_Mutation_p.D978H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	979					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCCTGGAGGACAACAAGCA	0.567																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2935-2937)Gac>Cac		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							172	138	149					7																	98522846		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522846G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2935G>C	7.37:g.98522846G>C	ENSP00000352925:p.Asp979His					TRRAP_uc011kis.2_Missense_Mutation_p.D979H|TRRAP_uc003upr.3_Missense_Mutation_p.D671H	p.D979H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	3144	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		979					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2935G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.234691|5.234691	0.95207|0.95207	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03441|.	3.93;3.93|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82683|0.82683	0.5090|0.5090	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.78314|.	0.991;0.957;0.968|.	T|T	0.81250|0.81250	-0.1018|-0.1018	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	979;693;979|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	H|S	979;979;977|693	ENSP00000352925:D979H;ENSP00000347733:D979H|.	ENSP00000347733:D979H|.	D|R	+|+	1|3	0|2	TRRAP|TRRAP	98360782|98360782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	9.728000|9.728000	0.98792|0.98792	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AGG		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98522846	G	C	98522846	3	2	112	1	0	0	0	0	1	0	0	0	16598	1174	41	5	3017	5	TRRAP	7	98522846	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	20970820	98522846	60615817	24	7611											
PMPCB	9512	broad.mit.edu	37	chr7	102949403	102949403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttatcttaactagattcGtgtgagggatgacaagatgc	11	13	11	6	1	1	4	0	2	1	2	2	5	1	5	0	1	2	1	0	1	4	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:102949403G>A	ENST00000249269.4	+	8	892	c.854G>A	c.(853-855)cGt>cAt	p.R285H	PMPCB_ENST00000420236.2_Missense_Mutation_p.R180H|PMPCB_ENST00000428154.1_Missense_Mutation_p.R285H	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	285					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACTAGATTCGTGTGAGGGAT	0.408																																						uc003vbk.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(853-855)cGt>cAt		Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.							140	123	129					7																	102949403		2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102949403G>A	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.854G>A	7.37:g.102949403G>A	ENSP00000249269:p.Arg285His					PMPCB_uc010liu.1_Missense_Mutation_p.R285H|PMPCB_uc003vbl.3_Missense_Mutation_p.R285H|PMPCB_uc011kll.1_Missense_Mutation_p.R180H|PMPCB_uc011klm.1_Missense_Mutation_p.R160H	p.R285H	NM_004279	NP_004270	O75439	MPPB_HUMAN			7	888	+			285					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.854G>A	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580707	0.86748	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.08720	3.06;3.06;3.06	5.35	5.35	0.76521	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.99;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D	0.77004	0.89;0.971;0.977;0.987;0.977;0.977;0.989	T	0.51942	-0.8641	10	0.66056	D	0.02	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	180;180;285;285;276;285;285	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	H	285;285;180	ENSP00000249269:R285H;ENSP00000390035:R285H;ENSP00000410393:R180H	ENSP00000249269:R285H	R	+	2	0	PMPCB	102736639	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	7.800000	0.85949	2.656000	0.90262	0.650000	0.86243	CGT		0.408	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		A	102949403	G	A	102949403	3	1	112	1	0	0	0	0	1	0	0	0	12141	1145	40	1	884	1	PMPCB	7	102949403	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	4426557	102949403	56189260	25	7612											
FLNC	2318	broad.mit.edu	37	chr7	128494166	128494166	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgcgaggtgcgggtggAggagtccacccaggtcggcg	8	4	19	10	5	0	0	0	0	0	0	2	3	1	2	2	6	2	0	2	6	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:128494166A>G	ENST00000325888.8	+	40	6884	c.6623A>G	c.(6622-6624)gAg>gGg	p.E2208G	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.E2175G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2208	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCGGGTGGAGGAGTCCACC	0.687																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6622-6624)gAg>gGg		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							20	26	24					7																	128494166		1989	4142	6131	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494166A>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6623A>G	7.37:g.128494166A>G	ENSP00000327145:p.Glu2208Gly					FLNC_uc003voa.4_Missense_Mutation_p.E2175G	p.E2208G	NM_001458	NP_001449	Q14315	FLNC_HUMAN			39	6832	+			2208			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6623A>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741050	0.69304	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85955	-2.05;-2.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	N	0.08118	0	0.58432	D	0.999992	D;B	0.76494	0.999;0.0	D;B	0.75484	0.986;0.002	T	0.83027	-0.0164	10	0.26408	T	0.33	.	13.8104	0.63260	1.0:0.0:0.0:0.0	.	2175;2208	Q14315-2;Q14315	.;FLNC_HUMAN	G	2208;2175	ENSP00000327145:E2208G;ENSP00000344002:E2175G	ENSP00000327145:E2208G	E	+	2	0	FLNC	128281402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.881000	0.92415	2.145000	0.66743	0.533000	0.62120	GAG		0.687	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			G	128494166	A	G	128494166	3	3	112	1	0	0	0	0	1	0	0	0	5935	304	11	4	6781	4	FLNC	7	128494166	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	25544763	128494166	30644497	26	7613											
FRMD3	257019	broad.mit.edu	37	chr9	85958187	85958187	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtcccttttaatctgAaggtataaaaggtatctgca	15	13	7	6	0	2	1	0	1	2	0	3	1	3	1	1	2	1	3	1	2	8	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:85958187A>G	ENST00000304195.3	-	5	596	c.390T>C	c.(388-390)ctT>ctC	p.L130L	FRMD3_ENST00000376438.1_Silent_p.L130L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	130	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTTTAATCTGAAGGTATAAAA	0.448																																						uc004ams.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(388-390)ctT>ctC		Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.							79	82	81					9																	85958187		1970	4159	6129	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85958187A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.390T>C	9.37:g.85958187A>G						FRMD3_uc004amr.1_Silent_p.L130L|FRMD3_uc022bja.1_Silent_p.L86L	p.L130L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			4	592	-			130			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.390T>C	CCDS43840.1																																																																																				0.448	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		G	85958187	A	G	85958187	2	3	112	1	0	0	0	0	0	0	0	1	6050	233	9	4		4	FRMD3	9	85958187	Silent	SNP	A	TCGA-12-0616-01A-01D-1492-08		85958187	55255244	27	7614											
LAMC3	10319	broad.mit.edu	37	chr9	133942520	133942520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcacaacaccacgggtGaccactgtgagcactgtcag	10	6	11	14	1	1	2	1	2	0	0	1	2	1	2	3	1	3	2	3	1	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:133942520G>A	ENST00000361069.4	+	14	2654	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	841	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACCACGGGTGACCACTGTGA	0.642																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2521-2523)Gac>Aac		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							90	77	82					9																	133942520		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133942520G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2521G>A	9.37:g.133942520G>A	ENSP00000354360:p.Asp841Asn						p.D841N	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	13	2619	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	841			Laminin EGF-like 8.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2521G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103078	0.08731	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61627	0.09	4.8	-2.48	0.06423	EGF-like, laminin (4);	0.608083	0.16381	N	0.216918	T	0.43033	0.1229	L	0.45137	1.4	0.09310	N	1	B	0.20459	0.045	B	0.33121	0.158	T	0.37079	-0.9721	10	0.18710	T	0.47	.	5.0643	0.14574	0.0685:0.3101:0.3908:0.2306	.	841	Q9Y6N6	LAMC3_HUMAN	N	841	ENSP00000354360:D841N	ENSP00000347156:D841N	D	+	1	0	LAMC3	132932341	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.250000	0.18235	-0.331000	0.08501	-0.937000	0.02696	GAC		0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133942520	G	A	133942520	3	1	112	1	0	0	0	0	1	0	0	0	8616	1290	45	3	2575	3	LAMC3	9	133942520	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	47984333	133942520	7270911	28	7615											
SURF4	6836	broad.mit.edu	37	chr9	136230531	136230531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggcgttgaaatatacGttgatggcaaagagccacac	15	7	11	8	2	0	4	0	2	0	2	0	4	0	4	1	2	2	3	1	2	5	4	rs371493854		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:136230531G>A	ENST00000371989.3	-	6	777	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	216					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAATATACGTTGATGGCAA	0.478																																						uc004cdj.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(646-648)aaC>aaT		Homo sapiens surfeit 4 (SURF4), mRNA.		G		0,4406		0,0,2203	100	91	94		648	2.3	1	9		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SURF4	NM_033161.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		216/270	136230531	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230531G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.648C>T	9.37:g.136230531G>A						SURF4_uc011mda.2_Silent_p.N207N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N173N|SURF4_uc011mdc.2_Silent_p.N173N	p.N216N	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	778	-			216					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.648C>T	CCDS6968.1																																																																																				0.478	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		A	136230531	G	A	136230531	2	1	112	1	0	0	0	0	0	0	0	1	15402	1136	40	1		1	SURF4	9	136230531	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	2288011	136230531	4982900	29	7616											
OR52M1	119772	broad.mit.edu	37	chr11	4566682	4566682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacttctgggaatcttcTggttcggtgcttgtgacatt	7	15	10	9	1	3	1	0	1	3	0	4	2	3	2	1	3	2	2	1	3	2	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:4566682T>C	ENST00000360213.1	+	1	262	c.262T>C	c.(262-264)Tgg>Cgg	p.W88R		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAATCTTCTGGTTCGGTGC	0.517																																						uc010qyf.2																			0		p.W88*(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(262-264)Tgg>Cgg		Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.							155	146	149					11																	4566682		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566682T>C	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.262T>C	11.37:g.4566682T>C	ENSP00000353343:p.Trp88Arg						p.W88R	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	262	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	88						Missense_Mutation	SNP	ENST00000360213.1	37	c.262T>C	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955523	0.53293	.	.	ENSG00000197790	ENST00000360213	T	0.00873	5.59	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000459	T	0.07593	0.0191	M	0.91459	3.21	0.31874	N	0.619313	D	0.89917	1.0	D	0.91635	0.999	T	0.01416	-1.1360	10	0.87932	D	0	.	13.6437	0.62267	0.0:0.0:0.0:1.0	.	88	Q8NGK5	O52M1_HUMAN	R	88	ENSP00000353343:W88R	ENSP00000353343:W88R	W	+	1	0	OR52M1	4523258	0.858000	0.29795	1.000000	0.80357	0.986000	0.74619	1.809000	0.38922	2.149000	0.67028	0.533000	0.62120	TGG		0.517	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		C	4566682	T	C	4566682	3	2	112	1	0	0	0	0	1	0	0	0	11126	1580	55	4	264	4	OR52M1	11	4566682	Missense_Mutation	SNP	T	TCGA-12-0616-01A-01D-1492-08		4566682	130439834	30	7617											
OR56A3	390083	broad.mit.edu	37	chr11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccctgctggacatcGtgctctgcctcactgtcatc	4	13	7	17	1	4	0	2	0	2	0	8	1	5	1	3	1	3	2	3	1	0	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:5968802G>A	ENST00000329564.6	+	1	233	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGACATCGTGCTCTGCCT	0.587																																						uc010qzt.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(226-228)Gtg>Atg		Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.							145	139	141					11																	5968802		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968802G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.226G>A	11.37:g.5968802G>A	ENSP00000331572:p.Val76Met						p.V76M	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	226	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	76					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.226G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.217055	0.22373	.	.	ENSG00000184478	ENST00000329564	T	0.20069	2.1	5.13	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.127003	0.36303	N	0.002680	T	0.14527	0.0351	L	0.33093	0.98	0.19945	N	0.999941	P	0.35714	0.517	B	0.31614	0.133	T	0.11275	-1.0594	10	0.52906	T	0.07	-16.112	10.1103	0.42559	0.1663:0.0:0.8337:0.0	.	76	Q8NH54	O56A3_HUMAN	M	76	ENSP00000331572:V76M	ENSP00000331572:V76M	V	+	1	0	OR56A3	5925378	0.000000	0.05858	0.350000	0.25708	0.778000	0.44026	-0.555000	0.05999	0.734000	0.32515	0.650000	0.86243	GTG		0.587	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		A	5968802	G	A	5968802	3	1	112	1	0	0	0	0	1	0	0	0	11134	1145	40	1	228	1	OR56A3	11	5968802	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	1402120	5968802	129037714	31	7618											
OR8H2	390151	broad.mit.edu	37	chr11	55872670	55872670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgatattgataatccGcctggacctccagcttcaca	10	10	10	11	1	1	2	1	2	0	0	3	4	3	4	4	3	1	1	4	3	2	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:55872670G>A	ENST00000313503.1	+	1	152	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)																												uc010riy.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(151-153)cGc>cAc		Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.							285	255	265					11																	55872670		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872670G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.152G>A	11.37:g.55872670G>A	ENSP00000323982:p.Arg51His	HNSCC(53;0.14)					p.R51H	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			0	152	+	Esophageal squamous(21;0.00693)		51					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.152G>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.739405	0.00681	.	.	ENSG00000181767	ENST00000313503	T	0.01076	5.37	3.58	-7.16	0.01516	GPCR, rhodopsin-like superfamily (1);	0.745590	0.12500	N	0.463420	T	0.00608	0.0020	N	0.20445	0.575	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46978	-0.9152	10	0.15499	T	0.54	.	0.6661	0.00851	0.3664:0.2105:0.2242:0.199	.	51	Q8N162	OR8H2_HUMAN	H	51	ENSP00000323982:R51H	ENSP00000323982:R51H	R	+	2	0	OR8H2	55629246	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.052000	0.00627	-2.361000	0.00609	-1.624000	0.00789	CGC		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		A	55872670	G	A	55872670	3	1	112	1	0	0	0	0	1	0	0	0	11238	1087	38	1	154	1	OR8H2	11	55872670	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	49903868	55872670	79133846	32	7619											
SF3B2	10992	broad.mit.edu	37	chr11	65830517	65830517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgctggtggctggggcaAacctccagtggatgagactg	8	8	15	10	0	0	1	0	1	0	1	1	3	1	2	3	5	2	3	3	5	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:65830517A>G	ENST00000322535.6	+	17	2064	c.2015A>G	c.(2014-2016)aAa>aGa	p.K672R	SF3B2_ENST00000528302.1_Missense_Mutation_p.K655R	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	672					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCTGGGGCAAACCTCCAGTG	0.498																																						uc001ogy.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2014-2016)aAa>aGa		Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.							134	119	124					11																	65830517		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65830517A>G	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2015A>G	11.37:g.65830517A>G	ENSP00000318861:p.Lys672Arg						p.K672R	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			16	2055	+			672					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.2015A>G	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.770246|4.770246	0.90108|0.90108	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.096232|.	0.64402|.	D|.	0.000001|.	T|T	0.74527|0.74527	0.3728|0.3728	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	P|.	0.35226|.	0.491|.	B|.	0.42798|.	0.398|.	T|T	0.75944|0.75944	-0.3139|-0.3139	9|5	0.52906|.	T|.	0.07|.	-12.4785|-12.4785	13.4507|13.4507	0.61169|0.61169	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	672|.	Q13435|.	SF3B2_HUMAN|.	R|D	655;672;576|93	.|.	ENSP00000318861:K672R|.	K|N	+|+	2|1	0|0	SF3B2|SF3B2	65587093|65587093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.344000|8.344000	0.90055|0.90055	2.070000|2.070000	0.61991|0.61991	0.519000|0.519000	0.50382|0.50382	AAA|AAC		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			G	65830517	A	G	65830517	3	3	112	1	0	0	0	0	1	0	0	0	14151	14	1	4	2081	4	SF3B2	11	65830517	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	9957847	65830517	69175999	33	7620											
MMP12	4321	broad.mit.edu	37	chr11	102743841	102743841	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaaatttttctaagtatCtctggaaaaaaaaatacatt	19	14	3	5	0	2	0	0	0	2	0	3	1	2	1	0	1	1	1	0	1	9	7			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:102743841C>G	ENST00000532855.1	-	0	200							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTCTAAGTATCTCTGGAAAAA	0.328																																						uc001phk.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26						c.e2-1		Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	Acetohydroxamic Acid(DB00551)						26	26	26					11																	102743841		1799	4071	5870			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743841C>G	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743841C>G							p.R35_splice	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	2	200	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	35					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.103_splice																																																																																					0.328	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		G	102743841	C	G	102743841	1	3	112	0	1	0	0	0	0	0	0	0	9651	927	32	5		5	MMP12	11	102743841	RNA	SNP	C	TCGA-12-0616-01A-01D-1492-08	36913324	102743841	32262675	34	7621											
LPAR5	57121	broad.mit.edu	37	chr12	6729589	6729589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaccatcagcaccccgcGcacgcgatcgcgggcaggca	9	3	11	18	6	2	0	2	0	0	0	3	1	2	0	3	2	1	4	3	2	0	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:6729589G>A	ENST00000329858.4	-	2	1582	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.R276C	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGCACCCCGCGCACGCGATCG	0.682																																					NSCLC(74;891 2312 37538)	uc009zer.2																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(826-828)Cgc>Tgc		Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.							12	13	13					12																	6729589		2188	4273	6461	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729589G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.826C>T	12.37:g.6729589G>A	ENSP00000327875:p.Arg276Cys					LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C|LPAR5_uc021qub.1_Missense_Mutation_p.R276C	p.R276C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN			1	1107	-			276						Missense_Mutation	SNP	ENST00000329858.4	37	c.826C>T	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849023	0.51270	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.72835	-0.69;-0.69	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.119082	0.35870	N	0.002930	T	0.66896	0.2836	M	0.80982	2.52	0.31805	N	0.62786	P	0.47962	0.903	B	0.35727	0.209	T	0.76558	-0.2915	10	0.38643	T	0.18	.	11.6805	0.51455	0.0814:0.0:0.9186:0.0	.	276	Q9H1C0	LPAR5_HUMAN	C	276	ENSP00000327875:R276C;ENSP00000393098:R276C	ENSP00000327875:R276C	R	-	1	0	LPAR5	6599850	1.000000	0.71417	0.996000	0.52242	0.375000	0.29983	4.607000	0.61133	2.536000	0.85505	0.491000	0.48974	CGC		0.682	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		A	6729589	G	A	6729589	3	1	112	1	0	0	0	0	1	0	0	0	8908	1087	38	1	296	1	LPAR5	12	6729589	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		6729589	127122306	35	7622											
PDE3A	5139	broad.mit.edu	37	chr12	20807040	20807040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctggaaaatgggtggaaGacagcgatgagtcaggagat	13	7	16	5	1	1	3	1	1	0	2	1	7	1	5	1	4	2	0	1	4	3	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:20807040G>A	ENST00000359062.3	+	15	3125	c.3085G>A	c.(3085-3087)Gac>Aac	p.D1029N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1029	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATGGGTGGAAGACAGCGATGA	0.478																																						uc001reh.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3085-3087)Gac>Aac		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						128	124	125					12																	20807040		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807040G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3085G>A	12.37:g.20807040G>A	ENSP00000351957:p.Asp1029Asn					PDE3A_uc021qwa.1_Missense_Mutation_p.D707N	p.D1029N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			14	3125	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1029			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3085G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507871	0.64410	.	.	ENSG00000172572	ENST00000359062	T	0.74526	-0.85	5.31	5.31	0.75309	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.993239	0.08196	N	0.983134	T	0.76630	0.4014	L	0.54323	1.7	0.36564	D	0.872584	P	0.41475	0.751	B	0.40165	0.321	T	0.78272	-0.2268	10	0.87932	D	0	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	1029	Q14432	PDE3A_HUMAN	N	1029	ENSP00000351957:D1029N	ENSP00000351957:D1029N	D	+	1	0	PDE3A	20698307	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.040000	0.76551	2.657000	0.90304	0.655000	0.94253	GAC		0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			A	20807040	G	A	20807040	3	1	112	1	0	0	0	0	1	0	0	0	11637	942	33	3	3143	3	PDE3A	12	20807040	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	14077451	20807040	113044855	36	7623											
KRT81	3887	broad.mit.edu	37	chr12	52685111	52685112	+	Frame_Shift_Ins	INS	-	-	G																															cctccgcacacgctgtggctINSgccgaagcccccggtgaggc																										TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:52685111_52685112insG	ENST00000327741.5	-	1	206_207	c.138_139insC	c.(136-141)ggcagcfs	p.S47fs	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	47	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGCTGTGGCTGCCGAAGCCCC	0.748																																						uc001sab.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(136-141)ggcagcfs		Homo sapiens keratin 81 (KRT81), mRNA.				89,1445		25,39,703						5.2	1			4	291,4093		74,143,1975	no	frameshift	KRT81	NM_002281.3		99,182,2678	A1A1,A1R,RR		6.6378,5.8018,6.4211				380,5538				SO:0001589	frameshift_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685111_52685112insG	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.139dupC	12.37:g.52685112_52685112dupG	ENSP00000369349:p.Ser47fs					KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	p.G46fs	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	0	188_189	-			46			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Frame_Shift_Ins	INS	ENST00000327741.5	37	c.138_139insC	CCDS31805.1																																																																																				0.748	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		G	52685112	-	G	52685111	7	5	112	1	0	1	1	0	0	0	0	0	8495	1580	55	0	1414	0	KRT81	12	52685111	Frame_Shift_Ins	INS	-	TCGA-12-0616-01A-01D-1492-08	31878071	52685111	81166784	37	7624											
NOC4L	79050	broad.mit.edu	37	chr12	132635897	132635897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttccacctggctgacCtcttcctgtcctcctcgtga	3	14	7	17	1	2	2	0	2	2	0	7	2	6	2	6	1	0	2	6	1	0	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:132635897C>T	ENST00000330579.1	+	11	1098	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	353					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGGCTGACCTCTTCCTGTC	0.652																																						uc001ujz.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1057-1059)Ctc>Ttc		Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.							98	103	101					12																	132635897		2202	4299	6501	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132635897C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1057C>T	12.37:g.132635897C>T	ENSP00000328854:p.Leu353Phe						p.L353F	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	10	1098	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		353					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1057C>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280940	0.40394	.	.	ENSG00000184967	ENST00000330579	T	0.65178	-0.14	5.2	2.28	0.28536	CCAAT-binding factor (1);	0.161178	0.41294	D	0.000909	T	0.75406	0.3845	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.74711	-0.3573	10	0.72032	D	0.01	-26.7259	7.3779	0.26839	0.0:0.5888:0.2732:0.1381	.	353	Q9BVI4	NOC4L_HUMAN	F	353	ENSP00000328854:L353F	ENSP00000328854:L353F	L	+	1	0	NOC4L	131201850	0.843000	0.29541	0.751000	0.31187	0.109000	0.19521	0.647000	0.24812	0.547000	0.28938	0.561000	0.74099	CTC		0.652	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		T	132635897	C	T	132635897	3	4	112	1	0	0	0	0	1	0	0	0	10515	681	24	3	1099	3	NOC4L	12	132635897	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	79950786	132635897	1215998	38	7625											
PCCA	5095	broad.mit.edu	37	chr13	100809554	100809554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaaggtacatccaggttAtggattcctttcagaaaaca	13	13	7	8	0	2	1	1	0	1	1	4	2	4	2	2	3	2	2	2	3	5	6			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr13:100809554A>G	ENST00000376285.1	+	6	466	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	PCCA_ENST00000376286.4_Missense_Mutation_p.Y117C|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Missense_Mutation_p.Y143C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	143	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCCAGGTTATGGATTCCTT	0.318																																						uc001voo.3																			0		p.G142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(427-429)tAt>tGt		Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Biotin(DB00121)						103	101	102					13																	100809554		2203	4299	6502	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100809554A>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.428A>G	13.37:g.100809554A>G	ENSP00000365462:p.Tyr143Cys					PCCA_uc010aga.3_Missense_Mutation_p.Y117C|PCCA_uc010tiz.2_Missense_Mutation_p.Y143C	p.Y143C	NM_000282	NP_000273	P05165	PCCA_HUMAN			5	534	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		143			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.428A>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063124	0.76187	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.95412	-3.7;-3.7;-3.7	5.0	5.0	0.66597	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.994;0.981;0.999	D	0.99246	1.0886	10	0.72032	D	0.01	.	14.6781	0.68996	1.0:0.0:0.0:0.0	.	143;117;143	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	C	117;143;143	ENSP00000365463:Y117C;ENSP00000365456:Y143C;ENSP00000365462:Y143C	ENSP00000365456:Y143C	Y	+	2	0	PCCA	99607555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.006000	0.58801	0.459000	0.35465	TAT		0.318	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			G	100809554	A	G	100809554	3	3	112	1	0	0	0	0	1	0	0	0	11504	449	16	4	450	4	PCCA	13	100809554	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08		100809554	14360324	39	7626											
NPAS3	64067	broad.mit.edu	37	chr14	34270129	34270129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacgcccatggagatgctCtaccaccacgtgcaccggct	10	6	10	15	3	1	2	0	0	1	2	1	3	1	2	4	2	3	3	4	2	2	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr14:34270129C>T	ENST00000356141.4	+	12	2616	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	NPAS3_ENST00000346562.2_Silent_p.L840L|NPAS3_ENST00000548645.1_Silent_p.L842L|NPAS3_ENST00000357798.5_Silent_p.L859L|NPAS3_ENST00000551492.1_Silent_p.L877L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	872					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAGATGCTCTACCACCACG	0.637																																						uc001wru.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2614-2616)ctC>ctT		Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.							46	29	34					14																	34270129		2202	4300	6502	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270129C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2616C>T	14.37:g.34270129C>T						NPAS3_uc001wrs.3_Silent_p.L859L|NPAS3_uc001wrv.3_Silent_p.L842L|NPAS3_uc001wrt.3_Silent_p.L840L	p.L872L	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2680	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		872					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2616C>T	CCDS53891.1																																																																																				0.637	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			T	34270129	C	T	34270129	2	4	112	1	0	0	0	0	0	0	0	1	10564	900	32	3		3	NPAS3	14	34270129	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08		34270129	73079411	40	7627											
CACNG3	10368	broad.mit.edu	37	chr16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaacgtcattctcagcGcgggcatcttttttgtctct	7	14	8	12	3	4	0	2	0	3	0	6	1	4	0	0	1	2	1	0	1	1	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572																																						uc002dmf.3																			1	Substitution - Missense(1)	p.A138T(2)|p.A138V(2)	large_intestine(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(412-414)Gcg>Acg		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.							58	53	55					16																	24366270		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366270G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.412G>A	16.37:g.24366270G>A	ENSP00000005284:p.Ala138Thr						p.A138T	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1614	+			138						Missense_Mutation	SNP	ENST00000005284.3	37	c.412G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763234	0.96906	.	.	ENSG00000006116	ENST00000005284	D	0.89617	-2.54	5.41	5.41	0.78517	.	0.112679	0.64402	D	0.000015	D	0.91633	0.7356	M	0.82132	2.575	0.80722	D	1	P	0.51653	0.947	P	0.47827	0.558	D	0.91099	0.4913	10	0.39692	T	0.17	-12.7101	18.9864	0.92771	0.0:0.0:1.0:0.0	.	138	O60359	CCG3_HUMAN	T	138	ENSP00000005284:A138T	ENSP00000005284:A138T	A	+	1	0	CACNG3	24273771	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.961000	0.93122	2.815000	0.96918	0.561000	0.74099	GCG		0.572	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24366270	G	A	24366270	3	1	112	1	0	0	0	0	1	0	0	0	2558	1087	38	1	422	1	CACNG3	16	24366270	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		24366270	65988483	41	7628											
GJC1	10052	broad.mit.edu	37	chr17	42882694	42882694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcccgaatccgtcgtcgGccatcatgcttaggtttggg	5	13	11	12	4	2	0	1	0	1	0	6	1	4	0	3	3	1	2	3	3	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:42882694G>A	ENST00000426548.1	-	3	761	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GJC1_ENST00000590758.1_Silent_p.G164G|GJC1_ENST00000592524.1_Silent_p.G164G|GJC1_ENST00000330514.4_Silent_p.G164G	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	164					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCGTCGTCGGCCATCATGCT	0.468																																						uc002ihj.3																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(490-492)ggC>ggT		Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.							201	181	188					17																	42882694		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882694G>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.492C>T	17.37:g.42882694G>A						GJC1_uc002ihk.3_Silent_p.G164G|GJC1_uc002ihl.3_Silent_p.G164G|GJC1_uc021tyf.1_Silent_p.G164G	p.G164G	NM_005497	NP_005488	P36383	CXG1_HUMAN			1	1003	-		Prostate(33;0.0959)	164					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.492C>T	CCDS11487.1																																																																																				0.468	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		A	42882694	G	A	42882694	2	1	112	1	0	0	0	0	0	0	0	1	6414	1190	42	3		3	GJC1	17	42882694	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08		42882694	38312516	42	7629											
DLX3	1747	broad.mit.edu	37	chr17	48072315	48072315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagctaagggagctggaGatgtcggtgaggatgctgct	8	9	18	6	1	0	2	0	1	0	1	1	5	0	4	0	5	4	5	0	5	1	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:48072315G>A	ENST00000434704.2	-	1	273	c.48C>T	c.(46-48)atC>atT	p.I16I	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	16					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGGAGCTGGAGATGTCGGTGA	0.642																																						uc002ipy.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(46-48)atC>atT		Homo sapiens distal-less homeobox 3 (DLX3), mRNA.							58	54	56					17																	48072315		2203	4300	6503	SO:0001819	synonymous_variant	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072315G>A		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.48C>T	17.37:g.48072315G>A							p.I16I	NM_005220	NP_005211	O60479	DLX3_HUMAN			0	274	-			16					B3KQL6	Silent	SNP	ENST00000434704.2	37	c.48C>T	CCDS11556.1																																																																																				0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			A	48072315	G	A	48072315	2	1	112	1	0	0	0	0	0	0	0	1	4572	932	33	3		3	DLX3	17	48072315	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	5189621	48072315	33122895	43	7630											
ABCA6	23460	broad.mit.edu	37	chr17	67111007	67111007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattgaattgaggacagaCgccagttatctttctgattt	12	14	8	7	1	2	4	0	3	2	1	2	5	2	5	1	1	1	1	1	1	3	5	rs372285217		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:67111007C>T	ENST00000284425.2	-	13	1852	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGAGGACAGACGCCAGTTATC	0.348													c|||	1	0.000199681	0	0	5008	,	,		16950	0		0	False		,,,				2504	0.001					uc002jhw.1																			0		p.G559D(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1678-1680)Gtc>Atc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.		T	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	131	119	123		1678	-5.9	0	17		123	0,8600		0,0,4300	no	missense	ABCA6	NM_080284.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	560/1618	67111007	2,13004	2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111007C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1678G>A	17.37:g.67111007C>T	ENSP00000284425:p.Val560Ile						p.V560I	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			12	1853	-	Breast(10;5.65e-12)		560			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1678G>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	c	0.775	-0.764225	0.02996	4.54E-4	0.0	ENSG00000154262	ENST00000284425	D	0.94376	-3.41	4.87	-5.89	0.02282	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.989895	0.08201	N	0.982307	D	0.83524	0.5273	N	0.21194	0.64	0.80722	D	1	B	0.32324	0.364	B	0.31016	0.123	T	0.64943	-0.6288	10	0.18276	T	0.48	.	7.3379	0.26619	0.2139:0.1905:0.0:0.5956	.	560	Q8N139	ABCA6_HUMAN	I	560	ENSP00000284425:V560I	ENSP00000284425:V560I	V	-	1	0	ABCA6	64622602	0.000000	0.05858	0.030000	0.17652	0.120000	0.20174	-1.699000	0.01906	-1.201000	0.02659	-1.112000	0.02068	GTC		0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		T	67111007	C	T	67111007	3	4	112	1	0	0	0	0	1	0	0	0	36	536	19	1	3283	1	ABCA6	17	67111007	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	19038692	67111007	14084203	44	7631											
TMEM161A	54929	broad.mit.edu	37	chr19	19243312	19243312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtactccaggaagaagcGcaggactgtggggggcactc	9	6	16	10	1	0	1	0	0	0	1	2	3	1	3	1	6	2	3	1	6	3	1	rs201715053		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:19243312G>A	ENST00000162044.9	-	5	356	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	TMEM161A_ENST00000592147.1_5'Flank|TMEM161A_ENST00000450333.2_Intron|TMEM161A_ENST00000587583.2_Intron	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	98					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGGAAGAAGCGCAGGACTGTG	0.582													G|||	1	0.000199681	0	0	5008	,	,		20532	0		0.001	False		,,,				2504	0					uc002nlg.3																			0		p.R98L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(292-294)Cgc>Tgc		Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.							101	99	99					19																	19243312		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243312G>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.292C>T	19.37:g.19243312G>A	ENSP00000162044:p.Arg98Cys					TMEM161A_uc002nli.3_Intron	p.R98C	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		4	322	-			98					B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.292C>T	CCDS12393.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.55	2.867252	0.51588	.	.	ENSG00000064545	ENST00000162044	.	.	.	3.35	3.35	0.38373	.	0.115587	0.64402	D	0.000013	T	0.59280	0.2182	M	0.72894	2.215	0.80722	D	1	B	0.30482	0.281	B	0.26202	0.067	T	0.67114	-0.5752	9	0.87932	D	0	-4.3667	12.5402	0.56165	0.0:0.0:1.0:0.0	.	98	Q9NX61	T161A_HUMAN	C	98	.	ENSP00000162044:R98C	R	-	1	0	TMEM161A	19104312	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.129000	0.64739	1.884000	0.54569	0.491000	0.48974	CGC		0.582	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		A	19243312	G	A	19243312	3	1	112	1	0	0	0	0	1	0	0	0	16073	1087	38	1	1179	1	TMEM161A	19	19243312	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		19243312	39885671	45	7632											
ZNF229	7772	broad.mit.edu	37	chr19	44934110	44934110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaggtactcttggatgCgggggaaggtctgcatcgtc	8	11	14	8	2	3	0	1	0	2	0	5	2	3	2	0	5	3	2	0	5	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:44934110C>T	ENST00000588931.1	-	6	1279	c.846G>A	c.(844-846)ccG>ccA	p.P282P	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.P276P|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443																																						uc002oze.1																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(844-846)ccG>ccA		Homo sapiens zinc finger protein 229 (ZNF229), mRNA.							69	66	67					19																	44934110		1935	4134	6069	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934110C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.846G>A	19.37:g.44934110C>T						ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	p.P282P	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	1280	-		Prostate(69;0.0352)	282					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.846G>A	CCDS42574.1																																																																																				0.443	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		T	44934110	C	T	44934110	2	4	112	1	0	0	0	0	0	0	0	1	17779	755	27	1		1	ZNF229	19	44934110	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	25690798	44934110	14194873	46	7633											
JOSD2	126119	broad.mit.edu	37	chr19	51009714	51009714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagacaccgtccacctggcGcagggccacccagtgccgcc	7	4	12	18	3	0	1	0	0	0	1	1	1	1	1	7	2	1	2	7	2	1	1	rs546200445		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:51009714G>A	ENST00000598418.1	-	4	641	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	JOSD2_ENST00000601423.1_Missense_Mutation_p.R130C|JOSD2_ENST00000391815.3_Missense_Mutation_p.R130C|JOSD2_ENST00000595669.1_Missense_Mutation_p.R88C	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	130	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TCCACCTGGCGCAGGGCCACC	0.701													G|||	1	0.000199681	0	0.0014	5008	,	,		9599	0		0	False		,,,				2504	0					uc002psn.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(388-390)Cgc>Tgc		Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.							7	9	8					19																	51009714		2170	4254	6424	SO:0001583	missense	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51009714G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.388C>T	19.37:g.51009714G>A	ENSP00000468956:p.Arg130Cys					JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	p.R130C	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	3	419	-		all_neural(266;0.131)	130			Josephin.		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	c.388C>T	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899384	0.52227	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.68331	-0.32	3.21	3.21	0.36854	.	0.000000	0.64402	U	0.000003	D	0.84138	0.5406	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.87744	0.2587	10	0.87932	D	0	-14.1513	12.288	0.54803	0.0:0.0:1.0:0.0	.	150;130	Q7Z7N5;Q8TAC2	.;JOS2_HUMAN	C	150;130	ENSP00000375691:R130C	ENSP00000293431:R150C	R	-	1	0	JOSD2	55701526	1.000000	0.71417	0.990000	0.47175	0.002000	0.02628	5.917000	0.69989	1.807000	0.52817	0.491000	0.48974	CGC		0.701	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		A	51009714	G	A	51009714	3	1	112	1	0	0	0	0	1	0	0	0	7959	1087	38	1	186	1	JOSD2	19	51009714	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	6075604	51009714	8119269	47	7634											
CELSR1	9620	broad.mit.edu	37	chr22	46793605	46793605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtagtcctcccaggcGtcgtggcagcggctattggg	5	9	15	12	3	0	0	0	0	0	0	3	0	2	0	2	4	2	4	2	4	2	3	rs549063106	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr22:46793605G>A	ENST00000262738.3	-	12	5666	c.5667C>T	c.(5665-5667)gaC>gaT	p.D1889D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1889	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCCAGGCGTCGTGGCAGC	0.617													G|||	2	0.000399361	0	0	5008	,	,		15301	0		0	False		,,,				2504	0.002					uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5665-5667)gaC>gaT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							53	39	44					22																	46793605		2201	4296	6497	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46793605G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5667C>T	22.37:g.46793605G>A						CELSR1_uc011arc.1_Silent_p.D210D	p.D1889D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	11	5667	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1889			EGF-like 5; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.5667C>T	CCDS14076.1																																																																																				0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46793605	G	A	46793605	2	1	112	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46793605	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08		46793605	4510961	48	7635											
USP11	8237	broad.mit.edu	37	chrX	47104414	47104414	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctccctcacccccaGcccagccgtacattgctatc	7	8	4	22	1	2	0	1	0	1	0	4	0	2	0	7	0	4	2	7	0	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:47104414G>C	ENST00000218348.3	+	16	2215		c.e16-1		USP11_ENST00000377107.2_Splice_Site	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567																																						uc004dhp.3																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.e16-1		Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.							60	53	55					X																	47104414		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104414G>C	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2216-1G>C	X.37:g.47104414G>C						USP11_uc004dhq.3_Splice_Site_p.A465_splice	p.A739_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN			16	2216	+			739					B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.2216_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301102	0.40694	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP11	46989358	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.210000	0.89753	2.166000	0.68216	0.513000	0.50165	.		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Intron	C	47104414	G	C	47104414	5	2	112	1	0	0	0	0	0	0	1	0	17039	985	34	5	2277	5	USP11	23	47104414	Splice_Site	SNP	G	TCGA-12-0616-01A-01D-1492-08		47104414	108166146	49	7636											
HUWE1	10075	broad.mit.edu	37	chrX	53576344	53576344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagtactcggtgtagaCggctagtattgagctttggc	7	14	12	8	2	1	2	1	1	1	1	3	2	1	2	0	3	2	5	0	3	4	7			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:53576344C>T	ENST00000342160.3	-	66	10068	c.9611G>A	c.(9610-9612)cGt>cAt	p.R3204H	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3204H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3204					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCGGTGTAGACGGCTAGTATT	0.557																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9610-9612)cGt>cAt		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							75	73	73					X																	53576344		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53576344C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9611G>A	X.37:g.53576344C>T	ENSP00000340648:p.Arg3204His					HUWE1_uc004dsn.3_Missense_Mutation_p.R2012H	p.R3204H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			66	10013	-			3204					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9611G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241996	0.58995	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77004	0.976;0.989	T	0.65755	-0.6091	10	0.51188	T	0.08	.	17.3491	0.87318	0.0:1.0:0.0:0.0	.	3204;3188	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	3204	ENSP00000340648:R3204H;ENSP00000262854:R3204H	ENSP00000262854:R3204H	R	-	2	0	HUWE1	53593069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.363000	0.80096	0.600000	0.82982	CGT		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53576344	C	T	53576344	3	4	112	1	0	0	0	0	1	0	0	0	7461	536	19	1	3585	1	HUWE1	23	53576344	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	6471930	53576344	101694216	50	7637											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686329	125686329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccagttggcgctccGtcagcagctcgggcagcctc	5	7	12	17	3	1	0	1	0	0	0	5	0	3	0	4	2	4	6	4	2	0	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:125686329G>A	ENST00000371126.1	-	1	505	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGGCGCTCCGTCAGCAGCTC	0.657																																						uc022cds.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(262-264)aCg>aTg		Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.							66	55	58					X																	125686329		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125686329G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.263C>T	X.37:g.125686329G>A	ENSP00000360167:p.Thr88Met					DCAF12L1_uc004eul.3_Missense_Mutation_p.T88M	p.T88M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			0	263	-			88					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.263C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	16.45	3.126244	0.56721	.	.	ENSG00000198889	ENST00000371126	T	0.37411	1.2	3.54	-7.08	0.01558	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.33847	0.0877	L	0.40543	1.245	0.09310	N	1	D	0.63046	0.992	P	0.50791	0.65	T	0.50197	-0.8856	9	0.72032	D	0.01	.	11.1436	0.48417	0.0:0.6095:0.1988:0.1916	.	88	Q5VU92	DC121_HUMAN	M	88	ENSP00000360167:T88M	ENSP00000360167:T88M	T	-	2	0	DCAF12L1	125514010	0.050000	0.20438	0.000000	0.03702	0.351000	0.29236	0.290000	0.18975	-2.149000	0.00797	-0.382000	0.06688	ACG		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		A	125686329	G	A	125686329	3	1	112	1	0	0	0	0	1	0	0	0	4264	1145	40	1	1132	1	DCAF12L1	23	125686329	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	72109985	125686329	29584231	51	7638											
MAGEC1	9947	broad.mit.edu	37	chrX	140995245	140995245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgagagtgctcctgagggGgaggattccctgtctcctct	5	11	13	12	0	2	2	0	2	2	1	5	5	4	4	4	3	1	1	4	3	0	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:140995245G>A	ENST00000285879.4	+	4	2341	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGAGGGGGAGGATTCCC	0.577										HNSCC(15;0.026)																												uc004fbt.3																			0		p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2053-2055)ggG>ggA		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							63	66	65					X																	140995245		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995245G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2055G>A	X.37:g.140995245G>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.G344G	p.G685G	NM_005462	NP_005453	O60732	MAGC1_HUMAN			3	2379	+	Acute lymphoblastic leukemia(192;6.56e-05)		685					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2055G>A	CCDS35417.1																																																																																				0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140995245	G	A	140995245	2	1	112	1	0	0	0	0	0	0	0	1	9180	1219	43	3		3	MAGEC1	23	140995245	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	15308916	140995245	14275315	52	7639											
HAUS7	55559	broad.mit.edu	37	chrX	152735936	152735936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaacacctccacagccGccctggacacgctgctgtcg	7	6	9	19	4	0	0	0	0	0	0	3	2	2	1	5	1	3	2	5	1	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:152735936G>A	ENST00000370211.4	-	1	153	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.A37V|HAUS7_ENST00000370210.1_Missense_Mutation_p.A27V	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	37					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CTCCACAGCCGCCCTGGACAC	0.726																																						uc004fhn.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(109-111)gCg>gTg		Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.							30	24	26					X																	152735936		2196	4296	6492	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152735936G>A	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.110C>T	X.37:g.152735936G>A	ENSP00000359230:p.Ala37Val					HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.A37V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	p.A37V	NM_017518	NP_059988	Q99871	HAUS7_HUMAN			0	668	-			37					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.110C>T	CCDS35438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.50|16.50	3.140900|3.140900	0.56936|0.56936	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000453918|ENST00000370211;ENST00000370219;ENST00000370212;ENST00000370210	.|T;T;T;T	.|0.32515	.|1.45;1.45;1.45;1.45	4.34|4.34	1.2|1.2	0.21068|0.21068	.|.	.|0.366692	.|0.25686	.|N	.|0.028968	.|T	.|0.34629	.|0.0904	M|M	0.61703|0.61703	1.905|1.905	0.23598|0.23598	N|N	0.997329|0.997329	.|D;D	.|0.71674	.|0.987;0.998	.|P;P	.|0.61874	.|0.511;0.895	.|T	.|0.37220	.|-0.9715	.|10	.|0.02654	.|T	.|1	.|-8.4511	3.4877|3.4877	0.07626|0.07626	0.2596:0.0:0.5476:0.1927|0.2596:0.0:0.5476:0.1927	.|.	.|37;37	.|Q99871;Q99871-2	.|HAUS7_HUMAN;.	.|V	-1|27;37;37;27	.|ENSP00000359230:A27V;ENSP00000359239:A37V;ENSP00000359231:A37V;ENSP00000359229:A27V	.|ENSP00000359229:A27V	.|A	-|-	.|2	.|0	HAUS7|HAUS7	152389130|152389130	0.000000|0.000000	0.05858|0.05858	0.034000|0.034000	0.17996|0.17996	0.701000|0.701000	0.40568|0.40568	-0.135000|-0.135000	0.10420|0.10420	-0.015000|-0.015000	0.14150|0.14150	0.525000|0.525000	0.51046|0.51046	.|GCG		0.726	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		A	152735936	G	A	152735936	3	1	112	1	0	0	0	0	1	0	0	0	6971	1087	38	1	1036	1	HAUS7	23	152735936	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	11740691	152735936	2534624	53	7640											
COL16A1	1307	broad.mit.edu	37	chr1	32164172	32164172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagtagtgtcagcaccaggGcaaactcctccgggagaccc	10	5	12	14	1	1	1	1	0	0	1	3	2	3	1	4	2	2	4	4	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:32164172G>A	ENST00000373672.3	-	5	818	c.302C>T	c.(301-303)gCc>gTc	p.A101V	COL16A1_ENST00000373668.3_Missense_Mutation_p.A101V|COL16A1_ENST00000271069.6_Missense_Mutation_p.A101V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	101	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGCACCAGGGCAAACTCCTC	0.567																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(301-303)gCc>gTc		Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.							94	96	95					1																	32164172		1981	4155	6136	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32164172G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.302C>T	1.37:g.32164172G>A	ENSP00000362776:p.Ala101Val					COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.A101V	p.A101V	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	4	667	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	101			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.302C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961936	0.74016	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.14022	2.54;2.54;2.54	4.69	4.69	0.59074	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.204894	0.41294	D	0.000917	T	0.09905	0.0243	N	0.14661	0.345	0.39075	D	0.960797	P;P	0.46987	0.7;0.888	B;B	0.39465	0.093;0.3	T	0.14783	-1.0460	10	0.72032	D	0.01	.	16.9076	0.86132	0.0:0.0:1.0:0.0	.	101;101	A6NCT7;Q07092	.;COGA1_HUMAN	V	101	ENSP00000362776:A101V;ENSP00000271069:A101V;ENSP00000362772:A101V	ENSP00000271069:A101V	A	-	2	0	COL16A1	31936759	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.022000	0.49659	2.596000	0.87737	0.555000	0.69702	GCC		0.567	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		A	32164172	G	A	32164172	3	1	113	1	0	0	0	0	1	0	0	0	3673	1203	42	3	4780	3	COL16A1	1	32164172	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		32164172	217086449	1	7641											
KLF17	128209	broad.mit.edu	37	chr1	44595136	44595136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcactttcctcacagcGcagagatgctggggtcccct	7	10	10	14	1	2	1	2	0	0	1	4	2	4	1	3	2	3	3	3	2	0	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:44595136G>A	ENST00000372299.3	+	2	251	c.193G>A	c.(193-195)Gca>Aca	p.A65T	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	65					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCCTCACAGCGCAGAGATGCT	0.557																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(193-195)Gca>Aca		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							80	70	73					1																	44595136		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595136G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.193G>A	1.37:g.44595136G>A	ENSP00000361373:p.Ala65Thr					KLF17_uc009vxf.1_Missense_Mutation_p.A28T	p.A65T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			1	251	+	Acute lymphoblastic leukemia(166;0.155)		65					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.193G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	0.674	-0.800940	0.02841	.	.	ENSG00000171872	ENST00000372299	T	0.09350	2.99	4.21	-5.22	0.02806	.	1.168800	0.06311	N	0.702617	T	0.02193	0.0068	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37526	-0.9702	10	0.02654	T	1	.	2.4897	0.04607	0.2338:0.4303:0.0851:0.2507	.	65	Q5JT82	KLF17_HUMAN	T	65	ENSP00000361373:A65T	ENSP00000361373:A65T	A	+	1	0	KLF17	44367723	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.760000	0.04756	-0.998000	0.03446	-1.312000	0.01307	GCA		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		A	44595136	G	A	44595136	3	1	113	1	0	0	0	0	1	0	0	0	8345	1087	38	1	199	1	KLF17	1	44595136	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	12430964	44595136	204655485	2	7642											
FLG2	388698	broad.mit.edu	37	chr1	152324215	152324215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctggaccctctctgtGtggactgtccatgaccagag	6	12	11	12	0	1	2	0	1	1	1	4	4	3	4	4	2	0	0	4	2	0	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:152324215G>A	ENST00000388718.5	-	3	6119	c.6047C>T	c.(6046-6048)aCa>aTa	p.T2016I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2016					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTCTGTGTGGACTGTCC	0.522																																						uc001ezw.4																			0		p.S2015T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6046-6048)aCa>aTa		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							389	361	370					1																	152324215		2201	4300	6501	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324215G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6047C>T	1.37:g.152324215G>A	ENSP00000373370:p.Thr2016Ile					AK056431_uc001ezv.3_Intron	p.T2016I	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6120	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2016					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6047C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249098	0.22880	.	.	ENSG00000143520	ENST00000388718	T	0.36157	1.27	3.9	1.9	0.25705	.	.	.	.	.	T	0.25158	0.0611	L	0.60455	1.87	0.09310	N	1	D	0.54964	0.969	P	0.50352	0.638	T	0.03807	-1.1002	9	0.49607	T	0.09	.	8.7741	0.34751	0.0:0.0:0.5901:0.4099	.	2016	Q5D862	FILA2_HUMAN	I	2016	ENSP00000373370:T2016I	ENSP00000373370:T2016I	T	-	2	0	FLG2	150590839	0.005000	0.15991	0.000000	0.03702	0.026000	0.11368	1.645000	0.37238	0.576000	0.29452	0.297000	0.19635	ACA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152324215	G	A	152324215	3	1	113	1	0	0	0	0	1	0	0	0	5923	1377	48	3	1132	3	FLG2	1	152324215	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	107729079	152324215	96926406	3	7643											
SPTA1	6708	broad.mit.edu	37	chr1	158585037	158585037	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgctccaggttgtgttGcatccgcaacccaagctggt	6	12	11	12	1	0	0	0	0	0	0	2	0	2	0	3	2	4	7	3	2	2	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:158585037G>A	ENST00000368147.4	-	48	6937	c.6757C>T	c.(6757-6759)Caa>Taa	p.Q2253*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2253					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTTGTGTTGCATCCGCAAC	0.537																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6757-6759)Caa>Taa		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							140	148	145					1																	158585037		2132	4252	6384	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585037G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6757C>T	1.37:g.158585037G>A	ENSP00000357129:p.Gln2253*						p.Q2253*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			47	6956	-	all_hematologic(112;0.0378)		2253					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.6757C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	48	14.777839	0.99809	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.54	5.54	0.83059	.	0.000000	0.30911	N	0.008626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.234	0.89944	0.0:0.0:1.0:0.0	.	.	.	.	X	2253;2250	.	ENSP00000357129:Q2250X	Q	-	1	0	SPTA1	156851661	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	8.991000	0.93514	2.884000	0.98904	0.655000	0.94253	CAA		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158585037	G	A	158585037	4	1	113	1	0	0	0	0	0	1	0	0	15115	1328	46	3	522	3	SPTA1	1	158585037	Nonsense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	6260822	158585037	90665584	4	7644											
TNFSF4	7292	broad.mit.edu	37	chr1	173155865	173155865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtaatgaaggctaatGttgacttcctgggagaagta	11	13	12	5	0	1	3	0	2	1	1	2	4	2	3	1	3	0	4	1	3	5	6			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:173155865G>A	ENST00000281834.3	-	3	478	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.N64N	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	114					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468																																						uc001giw.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(340-342)aaC>aaT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.							101	104	103					1																	173155865		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155865G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.342C>T	1.37:g.173155865G>A						TNFSF4_uc001giv.3_Silent_p.N64N	p.N114N	NM_003326	NP_003317	P23510	TNFL4_HUMAN			2	498	-			114					Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.342C>T	CCDS1306.1																																																																																				0.468	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			A	173155865	G	A	173155865	2	1	113	1	0	0	0	0	0	0	0	1	16307	1368	48	3		3	TNFSF4	1	173155865	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	14570828	173155865	76094756	5	7645											
IGFN1	91156	broad.mit.edu	37	chr1	201191952	201191952	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtgtgcccgtctccttTgaagtgagtgtacctgcagg	5	13	13	10	2	1	2	0	2	1	0	3	2	1	2	3	1	3	3	3	1	2	3	rs146807711		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:201191952T>G	ENST00000335211.4	+	20	10417	c.10287T>G	c.(10285-10287)ttT>ttG	p.F3429L	IGFN1_ENST00000295591.8_Missense_Mutation_p.F589L|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	972						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGTCTCCTTTGAAGTGAGTG	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10285-10287)ttT>ttG		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							84	68	73					1																	201191952		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201191952T>G	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10287T>G	1.37:g.201191952T>G	ENSP00000334714:p.Phe3429Leu		OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2119	IGFN1_uc001gwb.3_Non-coding_Transcript	p.F3429L	NM_001164586	NP_001158058					19	10417	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10287T>G	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.3|27.3	4.822899|4.822899	0.90873|0.90873	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|.	0.65732|.	-0.17;0.69|.	4.03|4.03	-3.0|-3.0	0.05480|0.05480	.|.	0.160686|.	0.42420|.	D|.	0.000715|.	T|.	0.53626|.	0.1808|.	L|L	0.50993|0.50993	1.605|1.605	0.52099|0.52099	D|D	0.999947|0.999947	P|.	0.48089|.	0.905|.	D|.	0.64410|.	0.925|.	T|.	0.49194|.	-0.8965|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.3183|9.3183	0.37948|0.37948	0.0:0.4124:0.0:0.5876|0.0:0.4124:0.0:0.5876	.|.	3429|.	F8WAI1|.	.|.	L|G	3429;589|847	ENSP00000334714:F3429L;ENSP00000295591:F589L|.	ENSP00000295591:F589L|.	F|X	+|+	3|1	2|0	IGFN1|IGFN1	199458575|199458575	1.000000|1.000000	0.71417|0.71417	0.359000|0.359000	0.25824|0.25824	0.509000|0.509000	0.34042|0.34042	0.897000|0.897000	0.28390|0.28390	-0.879000|-0.879000	0.04002|0.04002	-0.441000|-0.441000	0.05720|0.05720	TTT|TGA		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		G	201191952	T	G	201191952	3	3	113	1	0	0	0	0	1	0	0	0	7590	1809	63	5	10361	5	IGFN1	1	201191952	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	28036087	201191952	48058669	6	7646											
LIN9	286826	broad.mit.edu	37	chr1	226420896	226420896	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccttctgctagacacTaaagggaaaaaaatttcaaa	16	10	5	10	0	2	1	1	0	1	1	4	2	4	2	2	1	1	1	2	1	7	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:226420896T>C	ENST00000328205.5	-	14	2019		c.e14-2		LIN9_ENST00000481685.1_Splice_Site|LIN9_ENST00000366801.1_Splice_Site	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component						DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGCTAGACACTAAAGGGAAAA	0.294																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.e14-1		Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.							59	66	64					1																	226420896		2198	4296	6494	SO:0001630	splice_region_variant	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226420896T>C	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1474-2A>G	1.37:g.226420896T>C						LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.3_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	p.C492_splice	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	14	1784	-	Breast(184;0.158)		476					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Splice_Site	SNP	ENST00000328205.5	37	c.1474_splice	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801116	0.70567	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1701	0.72865	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIN9	224487519	1.000000	0.71417	0.980000	0.43619	0.831000	0.47069	7.594000	0.82698	1.983000	0.57843	0.533000	0.62120	.		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	Intron	C	226420896	T	C	226420896	5	2	113	1	0	0	0	0	0	0	1	0	8813	1536	53	4	212	4	LIN9	1	226420896	Splice_Site	SNP	T	TCGA-12-0618-01A-01D-1492-08	25228944	226420896	22829725	7	7647											
TRIB2	28951	broad.mit.edu	37	chr2	12858629	12858629	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtatcgggaaatacttaTtgttggaacctctggaggga	10	13	12	6	1	1	0	0	0	1	0	2	4	1	4	1	4	2	2	1	4	5	6	rs144421263		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:12858629T>C	ENST00000405331.3	+	1	266	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	TRIB2_ENST00000155926.4_Silent_p.L66L|RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000381465.2_Intron					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAATACTTATTGTTGGAACC	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1	0.000199681	8e-04	0	5008	,	,		14378	0		0	False		,,,				2504	0					uc002rbv.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(196-198)Ttg>Ctg		Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.		T		2,4404	4.2+/-10.8	0,2,2201	70	73	72		196	2.3	1	2	dbSNP_134	72	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TRIB2	NM_021643.3		0,7,6496	CC,CT,TT		0.0581,0.0454,0.0538		66/344	12858629	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858629T>C	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.196T>C	2.37:g.12858629T>C			OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_uc010yjp.2_Intron	p.L66L	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			0	1632	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		66			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.196T>C																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		C	12858629	T	C	12858629	2	2	113	1	0	0	0	0	0	0	0	1	16480	1490	52	4		4	TRIB2	2	12858629	Silent	SNP	T	TCGA-12-0618-01A-01D-1492-08		12858629	230340744	8	7648											
IFT172	26160	broad.mit.edu	37	chr2	27682592	27682592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctggcttcgatgtagtGattaatggctgcatcaagct	10	13	10	8	1	1	1	1	1	0	0	2	2	1	1	1	2	3	5	1	2	4	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:27682592G>T	ENST00000260570.3	-	24	2729	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	876					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGATGTAGTGATTAATGGCT	0.522																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2626-2628)Cac>Aac		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.							185	173	177					2																	27682592		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27682592G>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2626C>A	2.37:g.27682592G>T	ENSP00000260570:p.His876Asn						p.H876N	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			23	2677	-	Acute lymphoblastic leukemia(172;0.155)		876					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2626C>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012479	0.93346	.	.	ENSG00000138002	ENST00000260570	T	0.63744	-0.06	6.08	6.08	0.98989	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85834	0.1393	10	0.72032	D	0.01	-18.042	19.2285	0.93827	0.0:0.0:1.0:0.0	.	876	Q9UG01	IF172_HUMAN	N	876	ENSP00000260570:H876N	ENSP00000260570:H876N	H	-	1	0	IFT172	27536096	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.540000	0.98080	2.890000	0.99128	0.655000	0.94253	CAC		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		T	27682592	G	T	27682592	3	4	113	1	0	0	0	0	1	0	0	0	7557	1290	45	5	2723	5	IFT172	2	27682592	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	14823963	27682592	215516781	9	7649											
PMS1	5378	broad.mit.edu	37	chr2	190728600	190728600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgcatggaatttggCccagaagcacaagttaaaaa	16	6	9	10	1	0	1	0	0	0	1	0	2	0	2	2	2	2	3	2	2	6	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:190728600C>T	ENST00000441310.2	+	10	2221	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	PMS1_ENST00000418224.3_Missense_Mutation_p.A487V|PMS1_ENST00000432292.3_Missense_Mutation_p.A487V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.A624V|PMS1_ENST00000447232.2_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	663					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.A663V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGAATTTGGCCCAGAAGCAC	0.363			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.4			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			1	Substitution - Missense(1)	p.A663V(2)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1987-1989)gCc>gTc	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.							105	114	111					2																	190728600		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728600C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1988C>T	2.37:g.190728600C>T	ENSP00000406490:p.Ala663Val					PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.4_Missense_Mutation_p.A624V|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Missense_Mutation_p.A487V|PMS1_uc010zgd.2_Missense_Mutation_p.A487V|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.A331V	p.A663V	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	2517	+			663					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1988C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984571	0.53934	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.87334	1.81;1.81;1.81;1.81;-2.24;1.86	5.36	5.36	0.76844	.	0.298435	0.36167	N	0.002756	D	0.84428	0.5470	L	0.59436	1.845	0.28723	N	0.902943	B;P;P;B	0.36222	0.083;0.544;0.544;0.083	B;B;B;B	0.30943	0.05;0.113;0.122;0.05	T	0.82798	-0.0279	10	0.62326	D	0.03	-4.8142	16.6848	0.85302	0.0:1.0:0.0:0.0	.	663;624;624;663	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	V	487;663;487;624;487;602;51	ENSP00000406490:A663V;ENSP00000404492:A487V;ENSP00000387125:A624V;ENSP00000398378:A487V;ENSP00000389938:A602V;ENSP00000396232:A51V	ENSP00000376149:A487V	A	+	2	0	PMS1	190436845	0.944000	0.32072	1.000000	0.80357	0.754000	0.42855	2.767000	0.47637	2.806000	0.96561	0.644000	0.83932	GCC		0.363	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			T	190728600	C	T	190728600	3	4	113	1	0	0	0	0	1	0	0	0	12142	739	26	3	2022	3	PMS1	2	190728600	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	163046008	190728600	52470773	10	7650											
AOX1	316	broad.mit.edu	37	chr2	201523898	201523898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattcaggtggtcagccGtgaattaagaatgccaatgt	14	11	10	6	1	2	2	2	1	0	1	2	2	2	2	2	2	2	0	2	2	6	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:201523898G>A	ENST00000374700.2	+	28	3423	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1061					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGGTCAGCCGTGAATTAAGA	0.453																																						uc002uvx.3																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3181-3183)cGt>cAt		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						97	93	94					2																	201523898		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201523898G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3182G>A	2.37:g.201523898G>A	ENSP00000363832:p.Arg1061His					AOX1_uc010zhf.2_Missense_Mutation_p.R617H|AOX1_uc010fsu.3_Missense_Mutation_p.R427H	p.R1061H	NM_001159	NP_001150	Q06278	ADO_HUMAN			27	3283	+			1061					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3182G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389520	0.61956	.	.	ENSG00000138356	ENST00000374700	T	0.43688	0.94	4.97	3.19	0.36642	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	L	0.52823	1.66	0.58432	D	0.999998	B	0.29988	0.264	B	0.28232	0.087	T	0.20874	-1.0262	10	0.48119	T	0.1	-26.5045	11.523	0.50562	0.1455:0.0:0.8545:0.0	.	1061	Q06278	ADO_HUMAN	H	1061	ENSP00000363832:R1061H	ENSP00000363832:R1061H	R	+	2	0	AOX1	201232143	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	3.707000	0.54838	0.699000	0.31761	-0.215000	0.12644	CGT		0.453	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201523898	G	A	201523898	3	1	113	1	0	0	0	0	1	0	0	0	729	1145	40	1	3292	1	AOX1	2	201523898	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	10795298	201523898	41675475	11	7651											
ABCA12	26154	broad.mit.edu	37	chr2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T																															gctcaagactcatagcactaINStttttttgtgactctttggt																								rs387906285		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:215843155_215843156insT	ENST00000272895.7	-	33	5231_5232	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.N1353fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1671					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376																																					Ovarian(66;664 1488 5121 34295)	uc002vew.3																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139	GRCh37	CD051281	ABCA12	D		c.(5011-5013)aatfs		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843155_215843156insT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5013dupA	2.37:g.215843162_215843162dupT	ENSP00000272895:p.Asn1671fs					ABCA12_uc002vev.3_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.2_Frame_Shift_Ins_p.N598fs	p.N1671fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	32	5232_5233	-		Renal(323;0.127)	1671					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Ins	INS	ENST00000272895.7	37	c.5012_5013insA	CCDS33372.1																																																																																				0.376	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215843156	-	T	215843155	7	5	113	1	0	1	1	0	0	0	0	0	30	446	16	0	2858	0	ABCA12	2	215843155	Frame_Shift_Ins	INS	-	TCGA-12-0618-01A-01D-1492-08	14319257	215843155	27356218	12	7652											
NEU2	4759	broad.mit.edu	37	chr2	233899564	233899564	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcctacctcaacccgCgacctccagcccctgaggcc	6	6	10	19	2	1	1	1	1	0	0	2	2	2	1	8	2	4	0	8	2	2	1	rs370611873		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:233899564C>T	ENST00000233840.3	+	2	940	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	314					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCTCAACCCGCGACCTCCAGC	0.692																																						uc010zmn.2																			0		p.P313P(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(940-942)Cga>Tga		Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	59	66	63		940	-4.9	0	2		63	0,8600		0,0,4300	no	stop-gained	NEU2	NM_005383.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		314/381	233899564	1,13005	2203	4300	6503	SO:0001587	stop_gained	4759						exo-alpha-sialidase activity	g.chr2:233899564C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.940C>T	2.37:g.233899564C>T	ENSP00000233840:p.Arg314*						p.R314*	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	940	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	314					Q3KNW4|Q6NTB4	Nonsense_Mutation	SNP	ENST00000233840.3	37	c.940C>T	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040750	0.19669	2.27E-4	0.0	ENSG00000115488	ENST00000233840	.	.	.	4.87	-4.89	0.03103	.	2.365370	0.01871	N	0.037237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.5167	1.4827	0.02440	0.3938:0.146:0.0924:0.3678	.	.	.	.	X	314	.	ENSP00000233840:R314X	R	+	1	2	NEU2	233607808	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.134000	0.10436	-0.427000	0.07350	-0.150000	0.13652	CGA		0.692	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		T	233899564	C	T	233899564	4	4	113	1	0	0	0	0	0	1	0	0	10342	760	27	1	946	1	NEU2	2	233899564	Nonsense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	18056409	233899564	9299809	13	7653											
COL6A3	1293	broad.mit.edu	37	chr2	238280769	238280769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcagccgctgcaccgcGttctgcacttcatccttgct	4	11	9	17	3	3	0	2	0	1	0	4	0	4	0	4	1	4	5	4	1	0	3	rs200722316		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:238280769G>A	ENST00000295550.4	-	9	4343	c.3891C>T	c.(3889-3891)aaC>aaT	p.N1297N	COL6A3_ENST00000392003.2_Silent_p.N890N|COL6A3_ENST00000347401.3_Silent_p.N1096N|COL6A3_ENST00000409809.1_Silent_p.N1091N|COL6A3_ENST00000353578.4_Silent_p.N1091N|COL6A3_ENST00000392004.3_Silent_p.N1091N|COL6A3_ENST00000472056.1_Silent_p.N690N|COL6A3_ENST00000346358.4_Silent_p.N1097N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1297	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N1297N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGCACCGCGTTCTGCACTT	0.617													G|||	1	0.000199681	0	0	5008	,	,		19640	0		0.001	False		,,,				2504	0					uc002vwl.2																			1	Substitution - coding silent(1)	p.N1297N(2)	central_nervous_system(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3889-3891)aaC>aaT		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							66	58	60					2																	238280769		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280769G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3891C>T	2.37:g.238280769G>A						COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.3_Silent_p.N1091N|COL6A3_uc002vwr.3_Silent_p.N890N	p.N1297N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4176	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1297			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3891C>T	CCDS33412.1																																																																																				0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238280769	G	A	238280769	2	1	113	1	0	0	0	0	0	0	0	1	3701	1136	40	1		1	COL6A3	2	238280769	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	4381205	238280769	4918604	14	7654											
NEU4	129807	broad.mit.edu	37	chr2	242758284	242758284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatttccttttgtacattCtccctgcgtgaggtcctgga	6	15	10	10	1	1	2	0	1	1	1	4	4	3	3	3	2	2	1	3	2	1	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:242758284C>G	ENST00000391969.2	+	5	2076	c.1365C>G	c.(1363-1365)ttC>ttG	p.F455L	NEU4_ENST00000405370.1_Missense_Mutation_p.F455L|NEU4_ENST00000407683.1_Missense_Mutation_p.F455L|NEU4_ENST00000325935.6_Missense_Mutation_p.F468L|NEU4_ENST00000404257.1_Missense_Mutation_p.F467L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	455					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTTGTACATTCTCCCTGCGTG	0.642																																						uc002wcp.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(1402-1404)ttC>ttG		Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.							17	19	18					2																	242758284		2004	3984	5988	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242758284C>G	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1365C>G	2.37:g.242758284C>G	ENSP00000375830:p.Phe455Leu					NEU4_uc010fzr.3_Missense_Mutation_p.F455L|NEU4_uc002wcm.3_Missense_Mutation_p.F455L|NEU4_uc002wco.2_Missense_Mutation_p.F455L|NEU4_uc002wcn.2_Missense_Mutation_p.F467L	p.F468L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	1898	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	455					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.1404C>G	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721398	0.48728	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	4.29	3.41	0.39046	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	M	0.61703	1.905	0.46701	D	0.999169	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	D	0.87738	0.2583	10	0.87932	D	0	-31.6556	9.8551	0.41082	0.0:0.8303:0.0:0.1697	.	467;467;455	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	L	455;455;465;467;455;468	ENSP00000385402:F455L;ENSP00000384804:F455L;ENSP00000385149:F467L;ENSP00000375830:F455L;ENSP00000320318:F468L	ENSP00000320318:F468L	F	+	3	2	NEU4	242406957	1.000000	0.71417	0.850000	0.33497	0.108000	0.19459	3.384000	0.52478	0.914000	0.36822	0.558000	0.71614	TTC		0.642	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		G	242758284	C	G	242758284	3	3	113	1	0	0	0	0	1	0	0	0	10344	912	32	5	1418	5	NEU4	2	242758284	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	4477515	242758284	441089	15	7655											
ATP2B2	491	broad.mit.edu	37	chr3	10413708	10413708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggcatccaggtggcGtaccaggttgttgtccttca	7	11	11	12	1	2	0	2	0	0	0	4	0	4	0	3	4	1	4	3	4	1	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:10413708G>A	ENST00000352432.4	-	11	1513	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R482C|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R437C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R437C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R468C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	482					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCAGGTGGCGTACCAGGTTG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1444-1446)Cgc>Tgc		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							149	128	135					3																	10413708		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413708G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1444C>T	3.37:g.10413708G>A	ENSP00000324172:p.Arg482Cys					ATP2B2_uc003bvv.3_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.3_Missense_Mutation_p.R187C	p.R482C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1883	-			482					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1444C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358514	0.82243	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	4.71	4.71	0.59529	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	0.984;1.0;0.999	P;D;D	0.81914	0.525;0.995;0.987	D	0.99194	1.0871	10	0.87932	D	0	-11.8364	17.8684	0.88803	0.0:0.0:1.0:0.0	.	417;449;482	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	482;437;437;482;468;417;338;482	ENSP00000324172:R482C;ENSP00000373311:R437C;ENSP00000380267:R437C;ENSP00000353414:R482C;ENSP00000344677:R468C;ENSP00000414854:R338C	ENSP00000342954:R482C	R	-	1	0	ATP2B2	10388708	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.466000	0.73543	2.443000	0.82685	0.655000	0.94253	CGC		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10413708	G	A	10413708	3	1	113	1	0	0	0	0	1	0	0	0	1140	1145	40	1	2335	1	ATP2B2	3	10413708	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		10413708	187608722	16	7656											
RRP9	9136	broad.mit.edu	37	chr3	51969702	51969702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggtgcctctgcggaatgCcagaccctaagggtgcatgg	7	8	16	10	1	1	1	0	0	1	1	1	2	1	2	3	4	4	1	3	4	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:51969702C>T	ENST00000232888.6	-	9	815	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	248					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGCGGAATGCCAGACCCTAA	0.592																																						uc003dbw.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.(742-744)Gca>Aca		Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.							166	126	139					3																	51969702		2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51969702C>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.742G>A	3.37:g.51969702C>T	ENSP00000232888:p.Ala248Thr						p.A248T	NM_004704	NP_004695	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	8	781	-			248					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.742G>A	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928231	0.73327	.	.	ENSG00000114767	ENST00000232888	T	0.63744	-0.06	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118164	0.64402	D	0.000020	T	0.60869	0.2302	L	0.58354	1.805	0.43965	D	0.996642	B	0.27997	0.197	B	0.37144	0.242	T	0.60239	-0.7302	10	0.37606	T	0.19	-20.9536	10.5936	0.45325	0.2471:0.7529:0.0:0.0	.	248	O43818	U3IP2_HUMAN	T	248	ENSP00000232888:A248T	ENSP00000232888:A248T	A	-	1	0	RRP9	51944742	1.000000	0.71417	0.988000	0.46212	0.788000	0.44548	4.874000	0.63064	2.166000	0.68216	0.561000	0.74099	GCA		0.592	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		T	51969702	C	T	51969702	3	4	113	1	0	0	0	0	1	0	0	0	13691	739	26	3	713	3	RRP9	3	51969702	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	41555994	51969702	146052728	17	7657											
RETNLB	84666	broad.mit.edu	37	chr3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcaggtggcagcagCgggcagtggtccagtccacc	7	6	16	12	1	2	0	2	0	0	0	4	0	4	0	3	5	2	3	3	5	0	0	rs370708969		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:108474644C>T	ENST00000295755.6	-	3	515	c.317G>A	c.(316-318)cGc>cAc	p.R106H	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	106					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552													C|||	1	0.000199681	0	0	5008	,	,		18133	0		0	False		,,,				2504	0.001					uc003dxh.2																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(316-318)cGc>cAc		Homo sapiens resistin like beta (RETNLB), mRNA.							97	93	94					3																	108474644		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474644C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.317G>A	3.37:g.108474644C>T	ENSP00000295755:p.Arg106His						p.R106H	NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN			2	415	-			106					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.317G>A	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719611	0.30503	.	.	ENSG00000163515	ENST00000295755	T	0.52057	0.68	4.3	-0.666	0.11399	.	0.288359	0.24909	N	0.034638	T	0.61476	0.2350	M	0.73598	2.24	0.18873	N	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.54091	-0.8345	10	0.87932	D	0	-11.9276	7.6062	0.28103	0.0:0.5061:0.0:0.4939	.	106	Q9BQ08	RETNB_HUMAN	H	106	ENSP00000295755:R106H	ENSP00000295755:R106H	R	-	2	0	RETNLB	109957334	0.998000	0.40836	0.087000	0.20705	0.144000	0.21451	0.322000	0.19576	-0.391000	0.07763	-0.736000	0.03550	CGC		0.552	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			T	108474644	C	T	108474644	3	4	113	1	0	0	0	0	1	0	0	0	13237	768	27	1	22	1	RETNLB	3	108474644	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	56504942	108474644	89547786	18	7658											
SEC62	7095	broad.mit.edu	37	chr3	169694809	169694809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggaagctttatttacaaCcagggagtctgtggttgact	11	12	12	6	0	1	2	0	1	1	1	1	4	1	4	1	3	3	2	1	3	4	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:169694809C>A	ENST00000337002.4	+	3	279	c.221C>A	c.(220-222)aCc>aAc	p.T74N	SEC62_ENST00000480708.1_Missense_Mutation_p.T74N|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	74					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTATTTACAACCAGGGAGTCT	0.348																																						uc003fgg.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(220-222)aCc>aAc		Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.							81	82	82					3																	169694809		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169694809C>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.221C>A	3.37:g.169694809C>A	ENSP00000337688:p.Thr74Asn					SEC62_uc003fgh.3_Missense_Mutation_p.T74N	p.T74N	NM_003262	NP_003253	Q99442	SEC62_HUMAN			2	252	+			74					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.221C>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431992	0.62844	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.11821	2.74;2.74	5.57	5.57	0.84162	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.047602	0.85682	D	0.000000	T	0.28896	0.0717	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.04708	-1.0932	10	0.02654	T	1	-7.6077	16.4603	0.84033	0.0:1.0:0.0:0.0	.	74	Q99442	SEC62_HUMAN	N	74	ENSP00000337688:T74N;ENSP00000420331:T74N	ENSP00000337688:T74N	T	+	2	0	SEC62	171177503	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.192000	0.42649	2.624000	0.88883	0.484000	0.47621	ACC		0.348	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			A	169694809	C	A	169694809	3	1	113	1	0	0	0	0	1	0	0	0	14004	507	18	5	231	5	SEC62	3	169694809	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	61220165	169694809	28327621	19	7659											
DKK2	27123	broad.mit.edu	37	chr4	107846994	107846994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggcagcacatgccatctCggtggcagcgcttctttttt	5	13	12	11	2	2	0	0	0	2	0	3	0	2	0	1	4	3	4	1	4	0	4	rs370095806		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr4:107846994C>T	ENST00000285311.3	-	2	1040	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	DKK2_ENST00000513208.1_Missense_Mutation_p.R12Q|DKK2_ENST00000510463.1_Missense_Mutation_p.R66Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATGCCATCTCGGTGGCAGCG	0.498																																						uc003hyi.3																			0		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(334-336)cGa>cAa		Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.		C	GLN/ARG	0,4406		0,0,2203	173	159	164		335	5.4	0.9	4		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	DKK2	NM_014421.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	112/260	107846994	1,13005	2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107846994C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.335G>A	4.37:g.107846994C>T	ENSP00000285311:p.Arg112Gln					DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R112Q	p.R112Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	1040	-		Hepatocellular(203;0.217)	112			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.335G>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743262	0.96873	0.0	1.16E-4	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.60424	0.19;0.44;0.34	5.42	5.42	0.78866	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.79011	2.435	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.988	T	0.79992	-0.1569	10	0.72032	D	0.01	-15.7364	19.5778	0.95452	0.0:1.0:0.0:0.0	.	112;112	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Q	112;12;66	ENSP00000285311:R112Q;ENSP00000421255:R12Q;ENSP00000423797:R66Q	ENSP00000285311:R112Q	R	-	2	0	DKK2	108066443	1.000000	0.71417	0.917000	0.36280	0.983000	0.72400	7.410000	0.80065	2.704000	0.92352	0.467000	0.42956	CGA		0.498	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			T	107846994	C	T	107846994	3	4	113	1	0	0	0	0	1	0	0	0	4545	884	31	2	456	2	DKK2	4	107846994	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		107846994	83307282	20	7660											
SH3RF2	153769	broad.mit.edu	37	chr5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccattctccttcagggCgccatatggtagagatcagc	8	11	11	11	1	3	1	2	0	1	1	5	2	4	1	3	3	1	1	3	3	2	4	rs563187260	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr5:145393517C>T	ENST00000511217.1	+	4	1004	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R318C			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	318					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.R318C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													C|||	10	0.00199681	0	0	5008	,	,		20277	0		0	False		,,,				2504	0.0102					uc003lnt.3																			1	Substitution - Missense(1)	p.R318C(2)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(952-954)Cgc>Tgc		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							118	114	115					5																	145393517		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393517C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.952C>T	5.37:g.145393517C>T	ENSP00000424497:p.Arg318Cys					SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1190	+			318					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.952C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564879	0.86439	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.09073	3.02;3.02	5.47	5.47	0.80525	.	0.149558	0.48286	D	0.000192	T	0.12347	0.0300	N	0.19112	0.55	0.49130	D	0.999757	D	0.71674	0.998	P	0.51170	0.661	T	0.02378	-1.1168	10	0.87932	D	0	-13.6685	19.6825	0.95970	0.0:1.0:0.0:0.0	.	318	Q8TEC5	SH3R2_HUMAN	C	318	ENSP00000352028:R318C;ENSP00000424497:R318C	ENSP00000352028:R318C	R	+	1	0	SH3RF2	145373710	1.000000	0.71417	0.908000	0.35775	0.916000	0.54674	3.642000	0.54367	2.727000	0.93392	0.591000	0.81541	CGC		0.577	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		T	145393517	C	T	145393517	3	4	113	1	0	0	0	0	1	0	0	0	14259	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		145393517	35521743	21	7661											
OR14J1	442191	broad.mit.edu	37	chr6	29275286	29275286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggaccttgtattctccGtattctatactgtgatacct	7	17	7	10	1	2	1	0	1	2	0	3	2	2	2	3	1	2	2	3	1	5	8			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:29275286G>A	ENST00000377160.2	+	1	884	c.820G>A	c.(820-822)Gta>Ata	p.V274I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTATTCTCCGTATTCTATAC	0.443																																						uc011dln.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(820-822)Gta>Ata		Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.							149	143	145					6																	29275286		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275286G>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.820G>A	6.37:g.29275286G>A	ENSP00000366365:p.Val274Ile						p.V274I	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			0	820	+			274					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.820G>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	6.448	0.450791	0.12223	.	.	ENSG00000204695	ENST00000377160	T	0.00249	8.44	4.86	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.311882	0.22416	N	0.060360	T	0.00039	0.0001	L	0.28115	0.83	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.49360	-0.8948	10	0.42905	T	0.14	.	0.8859	0.01244	0.454:0.1278:0.2472:0.171	.	274	Q9UGF5	O14J1_HUMAN	I	274	ENSP00000366365:V274I	ENSP00000366365:V274I	V	+	1	0	OR14J1	29383265	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.446000	0.06837	0.106000	0.17784	-1.027000	0.02421	GTA		0.443	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			A	29275286	G	A	29275286	3	1	113	1	0	0	0	0	1	0	0	0	10948	1145	40	1	822	1	OR14J1	6	29275286	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		29275286	141839781	22	7662											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975995	32975995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaactggcccgaggcgccGtaagactggtagaaggcggg	9	5	18	9	4	0	3	0	1	0	2	0	4	0	3	2	5	1	2	2	5	4	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:32975995G>A	ENST00000229829.5	-	2	201	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Silent_p.Y12Y	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	42	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGAGGCGCCGTAAGACTGGT	0.542																																						uc003ocr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(124-126)taC>taT		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							49	48	48					6																	32975995		1510	2707	4217	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975995G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.126C>T	6.37:g.32975995G>A						HLA-DOA_uc010juj.3_Silent_p.Y12Y|HLA-DOA_uc010jui.3_Silent_p.Y42Y	p.Y42Y	NM_002119	NP_002110	P06340	DOA_HUMAN			1	202	-			42			Alpha-1.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.126C>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	4.375	0.069168	0.08436	.	.	ENSG00000204252	ENST00000432150	.	.	.	4.4	-0.726	0.11170	.	.	.	.	.	T	0.48059	0.1479	.	.	.	0.40338	D	0.979	.	.	.	.	.	.	T	0.54728	-0.8250	5	0.87932	D	0	.	7.5743	0.27926	0.6797:0.0:0.3203:0.0	.	.	.	.	M	42	.	ENSP00000412819:T42M	T	-	2	0	HLA-DOA	33083973	0.000000	0.05858	0.374000	0.26016	0.494000	0.33585	-0.472000	0.06623	-0.047000	0.13423	0.650000	0.86243	ACG		0.542	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		A	32975995	G	A	32975995	2	1	113	1	0	0	0	0	0	0	0	1	7200	1140	40	1		1	HLA-DOA	6	32975995	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	3700709	32975995	138139072	23	7663											
CUL9	23113	broad.mit.edu	37	chr6	43163923	43163923	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagatcttcgccagcatCgactcagccacacgcccggg	10	5	11	15	4	2	2	1	0	1	2	4	4	2	2	3	1	2	1	3	1	0	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:43163923C>A	ENST00000252050.4	+	10	2589	c.2505C>A	c.(2503-2505)atC>atA	p.I835I	CUL9_ENST00000372647.2_Silent_p.I835I|CUL9_ENST00000354495.3_Silent_p.I725I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	835					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCGCCAGCATCGACTCAGCCA	0.567																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2503-2505)atC>atA		Homo sapiens cullin 9 (CUL9), mRNA.							79	75	76					6																	43163923		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43163923C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2505C>A	6.37:g.43163923C>A						CUL9_uc003oul.3_Silent_p.I835I|CUL9_uc010jyk.3_5'UTR	p.I835I	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			9	2580	+			835					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2505C>A	CCDS4890.1																																																																																				0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43163923	C	A	43163923	2	1	113	1	0	0	0	0	0	0	0	1	4061	874	31	5		5	CUL9	6	43163923	Silent	SNP	C	TCGA-12-0618-01A-01D-1492-08	10187928	43163923	127951144	24	7664											
CRISP3	10321	broad.mit.edu	37	chr6	49696554	49696554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttactatagagatcttcGtacttgcaaccattggctgg	10	13	9	9	1	1	1	0	0	1	1	2	2	1	1	1	2	4	4	1	2	5	7	rs374288697	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:49696554G>A	ENST00000393666.1	-	7	633	c.627C>T	c.(625-627)taC>taT	p.Y209Y	CRISP3_ENST00000423399.2_Silent_p.Y119Y|CRISP3_ENST00000433368.2_Silent_p.Y232Y|CRISP3_ENST00000371159.4_Silent_p.Y240Y|CRISP3_ENST00000263045.4_Silent_p.Y222Y			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	209	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGAGATCTTCGTACTTGCAAC	0.358													G|||	2	0.000399361	0	0.0014	5008	,	,		17520	0		0	False		,,,				2504	0.001					uc021zai.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(694-696)taC>taT		Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	127	118	121		696,666	-2.6	0	6		121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CRISP3	NM_001190986.1,NM_006061.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	232/269,222/259	49696554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49696554G>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.627C>T	6.37:g.49696554G>A						CRISP3_uc003ozs.3_Silent_p.Y222Y	p.Y232Y	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	784	-	Lung NSC(77;0.0161)		209					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.696C>T																																																																																					0.358	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		A	49696554	G	A	49696554	2	1	113	1	0	0	0	0	0	0	0	1	3881	1140	40	1		1	CRISP3	6	49696554	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	6532631	49696554	121418513	25	7665											
ORC3L	23595	broad.mit.edu	37	chr6	88318866	88318866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacttctagccaatggcAgtctcctcctgttgtcgtta	7	14	8	12	1	2	0	0	0	2	0	5	1	3	0	3	1	2	3	3	1	4	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:88318866A>T	ENST00000392844.3	+	7	680	c.632A>T	c.(631-633)cAg>cTg	p.Q211L	ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.Q158L|ORC3_ENST00000546266.1_Missense_Mutation_p.Q68L|ORC3_ENST00000257789.4_Missense_Mutation_p.Q211L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	211					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGCCAATGGCAGTCTCCTCCT	0.398																																						uc003pmg.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(631-633)cAg>cTg		Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.							115	109	111					6																	88318866		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88318866A>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.632A>T	6.37:g.88318866A>T	ENSP00000376586:p.Gln211Leu					ORC3_uc011dzl.2_Missense_Mutation_p.Q211L|ORC3_uc011dzm.2_Missense_Mutation_p.Q211L|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Missense_Mutation_p.Q211L|ORC3_uc011dzp.2_Missense_Mutation_p.Q68L|ORC3_uc011dzo.2_Missense_Mutation_p.Q68L	p.Q211L	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN			6	734	+			211					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.632A>T	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898538	0.33535	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.21	-0.686	0.11324	.	0.422243	0.28088	N	0.016643	T	0.08758	0.0217	M	0.66939	2.045	0.35791	D	0.822372	B;P;B;B;B	0.34615	0.018;0.459;0.007;0.25;0.21	B;B;B;B;B	0.43701	0.086;0.428;0.016;0.122;0.208	T	0.15809	-1.0424	10	0.29301	T	0.29	0.5056	3.7406	0.08528	0.5854:0.1969:0.121:0.0967	.	211;211;149;211;211	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	L	211;211;68;158	ENSP00000376586:Q211L;ENSP00000257789:Q211L;ENSP00000444695:Q68L;ENSP00000390176:Q158L	ENSP00000257789:Q211L	Q	+	2	0	ORC3	88375585	0.987000	0.35691	0.732000	0.30844	0.687000	0.40016	2.576000	0.46033	-0.216000	0.10048	-1.533000	0.00918	CAG		0.398	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			T	88318866	A	T	88318866	3	4	113	1	0	0	0	0	1	0	0	0	11263	188	7	5	658	5	ORC3L	6	88318866	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08	38622312	88318866	82796201	26	7666											
ARID1B	57492	broad.mit.edu	37	chr6	157522507	157522507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccacatcccaggtcacCgggccaccaccccaaccacc	9	3	6	23	1	1	0	1	0	0	0	3	0	3	0	10	2	1	0	10	2	1	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:157522507C>T	ENST00000350026.5	+	17	4741	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	ARID1B_ENST00000367148.1_Silent_p.T1633T|ARID1B_ENST00000346085.5_Silent_p.T1593T|ARID1B_ENST00000275248.4_Silent_p.T1575T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1580	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547																																						uc003qqp.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4738-4740)acC>acT		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.							117	110	112					6																	157522507		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522507C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4740C>T	6.37:g.157522507C>T						ARID1B_uc003qqo.3_Silent_p.T1593T|ARID1B_uc003qqn.3_Silent_p.T1633T	p.T1580T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	16	4740	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1580			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4740C>T	CCDS5251.2																																																																																				0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		T	157522507	C	T	157522507	2	4	113	1	0	0	0	0	0	0	0	1	914	639	23	2		2	ARID1B	6	157522507	Silent	SNP	C	TCGA-12-0618-01A-01D-1492-08	69203641	157522507	13592560	27	7667											
OSBPL3	26031	broad.mit.edu	37	chr7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctcgttcagctccaccgGcatggccaccttggacaggt	6	8	13	14	2	1	0	1	0	0	0	3	1	2	1	4	5	1	4	4	5	0	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632																																						uc003sxf.3																			0		p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1636-1638)Ccg>Tcg		Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.							90	75	80					7																	24874215		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874215G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1636C>T	7.37:g.24874215G>A	ENSP00000315410:p.Pro546Ser					OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.3_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.3_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	p.P546S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			14	2041	-			546					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1636C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311061	0.95629	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.95382	0.8474	10	0.87932	D	0	-19.2119	20.1699	0.98157	0.0:0.0:1.0:0.0	.	479;510;479;515;510;546	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	S	546;515;510;479;515;510;479	ENSP00000315410:P546S;ENSP00000315331:P515S;ENSP00000315277:P510S;ENSP00000389779:P479S;ENSP00000379708:P515S;ENSP00000379706:P510S;ENSP00000386953:P479S	ENSP00000315410:P546S	P	-	1	0	OSBPL3	24840740	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.799000	0.99117	2.775000	0.95449	0.467000	0.42956	CCG		0.632	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			A	24874215	G	A	24874215	3	1	113	1	0	0	0	0	1	0	0	0	11279	1203	42	3	1063	3	OSBPL3	7	24874215	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		24874215	134264448	28	7668											
NSUN5	55695	broad.mit.edu	37	chr7	72721702	72721702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccaacagagccttccatCggcccccaccccctcgaaag	9	4	8	20	2	0	1	0	0	0	1	3	2	1	1	7	2	2	0	7	2	2	1	rs373433551		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:72721702C>T	ENST00000252594.6	-	3	284	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	NSUN5_ENST00000310326.8_Missense_Mutation_p.R90Q|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000438747.2_Missense_Mutation_p.R90Q			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	90					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGCCTTCCATCGGCCCCCACC	0.552																																						uc003txw.3																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(268-270)cGa>cAa		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,	1,4403		0,1,2201	35	32	33		269,269,269,	3.3	1	7		33	5,8595		0,5,4295	no	missense,missense,missense,intron	NSUN5	NM_001168347.1,NM_018044.3,NM_148956.2,NM_001168348.1	43,43,43,	0,6,6496	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,	90/471,90/430,90/467,	72721702	6,12998	2202	4300	6502	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721702C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.269G>A	7.37:g.72721702C>T	ENSP00000252594:p.Arg90Gln					FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R90Q|NSUN5_uc003txv.3_Missense_Mutation_p.R90Q|NSUN5_uc003txx.3_Intron	p.R90Q	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			2	346	-		Lung NSC(55;0.163)	90					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.269G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508684	0.44660	2.27E-4	5.81E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.13657	2.57;2.78;2.79	4.18	3.3	0.37823	.	0.400478	0.26170	N	0.025923	T	0.10551	0.0258	L	0.49640	1.575	0.28867	N	0.89518	P;P;P	0.42078	0.653;0.77;0.51	B;B;B	0.29942	0.057;0.057;0.109	T	0.11179	-1.0598	9	.	.	.	.	11.0359	0.47799	0.0:0.9089:0.0:0.0911	.	90;90;90	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	Q	90	ENSP00000252594:R90Q;ENSP00000388464:R90Q;ENSP00000309126:R90Q	.	R	-	2	0	NSUN5	72359638	0.983000	0.35010	0.978000	0.43139	0.974000	0.67602	3.564000	0.53791	0.980000	0.38523	0.485000	0.47835	CGA		0.552	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		T	72721702	C	T	72721702	3	4	113	1	0	0	0	0	1	0	0	0	10681	884	31	2	1184	2	NSUN5	7	72721702	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	47847487	72721702	86416961	29	7669											
ABCB4	5244	broad.mit.edu	37	chr7	87079357	87079357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcctcttctgccacggCgcctgcttttgcataagcag	7	10	10	14	2	2	1	0	0	2	1	2	1	2	1	3	1	5	3	3	1	1	4	rs147998447	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:87079357C>T	ENST00000265723.4	-	8	871	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	ABCB4_ENST00000359206.3_Missense_Mutation_p.A254T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A254T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A254T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A254T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	254	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCTGCCACGGCGCCTGCTTTT	0.478													c|||	4	0.000798722	0.003	0	5008	,	,		17800	0		0	False		,,,				2504	0					uc003uiv.1																			0		p.A254A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(760-762)Gcc>Acc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	3,4403	6.2+/-15.9	0,3,2200	93	87	89		760,760,760	5.8	0.7	7	dbSNP_134	89	0,8600		0,0,4300	yes	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	58,58,58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging	254/1280,254/1287,254/1233	87079357	3,13003	2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87079357C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.760G>A	7.37:g.87079357C>T	ENSP00000265723:p.Ala254Thr					ABCB4_uc003uiw.1_Missense_Mutation_p.A254T|ABCB4_uc003uix.1_Missense_Mutation_p.A254T	p.A254T	NM_018849	NP_061337	P21439	MDR3_HUMAN			7	836	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		254			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.760G>A	CCDS5606.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	32	5.126637	0.94429	6.81E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.75	5.75	0.90469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.49571	1.57	0.80722	D	1	P;D;D	0.76494	0.953;0.998;0.999	P;P;D	0.66084	0.563;0.903;0.941	D	0.92650	0.6132	10	0.48119	T	0.1	-11.2401	15.5329	0.75977	0.1387:0.8613:0.0:0.0	.	254;254;254	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	254	ENSP00000352135:A254T;ENSP00000351172:A254T;ENSP00000265723:A254T;ENSP00000392983:A254T;ENSP00000437465:A254T	ENSP00000265723:A254T	A	-	1	0	ABCB4	86917293	1.000000	0.71417	0.743000	0.31040	0.960000	0.62799	4.709000	0.61867	2.711000	0.92665	0.591000	0.81541	GCC		0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87079357	C	T	87079357	3	4	113	1	0	0	0	0	1	0	0	0	43	768	27	1	3184	1	ABCB4	7	87079357	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	14357655	87079357	72059306	30	7670											
ORAI2	80228	broad.mit.edu	37	chr7	102086975	102086975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggtggccatggtggagGtgcagctggagacgcagtac	8	6	18	9	2	0	1	0	0	0	1	0	3	0	2	1	6	3	5	1	6	1	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:102086975G>A	ENST00000356387.2	+	4	476	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	ORAI2_ENST00000478730.2_Missense_Mutation_p.V81M|ORAI2_ENST00000403646.3_Missense_Mutation_p.V81M|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Missense_Mutation_p.V81M	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	81						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CATGGTGGAGGTGCAGCTGGA	0.677																																						uc010lhz.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(241-243)Gtg>Atg		Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.							33	32	33					7																	102086975		2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102086975G>A	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.241G>A	7.37:g.102086975G>A	ENSP00000348752:p.Val81Met					ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	p.V81M	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN			3	476	+			81					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.241G>A	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486155	0.84854	.	.	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000498661;ENST00000473939	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.72972	-0.4129	10	0.59425	D	0.04	-3.4657	17.0058	0.86392	0.0:0.0:1.0:0.0	.	81	Q96SN7	ORAI2_HUMAN	M	81	ENSP00000420178:V81M;ENSP00000348752:V81M;ENSP00000418140:V81M;ENSP00000417407:V81M;ENSP00000385489:V81M;ENSP00000418464:V81M;ENSP00000417928:V81M	ENSP00000348752:V81M	V	+	1	0	ORAI2	101873980	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.657000	0.98554	2.492000	0.84095	0.561000	0.74099	GTG		0.677	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		A	102086975	G	A	102086975	3	1	113	1	0	0	0	0	1	0	0	0	11258	1261	44	3	247	3	ORAI2	7	102086975	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	15007618	102086975	57051688	31	7671											
SLC26A3	1811	broad.mit.edu	37	chr7	107431671	107431671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatactcagaatcGgaaacggacctaattaacag	16	7	6	12	2	2	1	2	0	0	1	3	3	2	3	3	2	3	0	3	2	5	3	rs386833482|rs386833481		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:107431671G>A	ENST00000340010.5	-	5	576	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.P96L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	131			P -> L (in DIAR1). {ECO:0000269|PubMed:21394828}.|P -> R (in DIAR1). {ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329}.		anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACTCAGAATCGGAAACGGACC	0.428																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	GRCh37	CM980571	SLC26A3	M		c.(391-393)cCg>cTg		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							175	158	164					7																	107431671		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107431671G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.392C>T	7.37:g.107431671G>A	ENSP00000345873:p.Pro131Leu					SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	p.P131L	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	603	-			131		P -> R (in DIAR1).				Missense_Mutation	SNP	ENST00000340010.5	37	c.392C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689766	0.88735	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.91180	-2.8;-2.8	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96450	0.9333	10	0.72032	D	0.01	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	96;131	G5E9U3;P40879	.;S26A3_HUMAN	L	96;131	ENSP00000415817:P96L;ENSP00000345873:P131L	ENSP00000345873:P131L	P	-	2	0	SLC26A3	107218907	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	8.533000	0.90617	2.694000	0.91930	0.585000	0.79938	CCG		0.428	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		A	107431671	G	A	107431671	3	1	113	1	0	0	0	0	1	0	0	0	14518	1116	39	2	1970	2	SLC26A3	7	107431671	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	5344696	107431671	51706992	32	7672											
EZH2	2146	broad.mit.edu	37	chr7	148515006	148515009	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															tcatctttcttctcttcttcTtctttatcattgttctctcc																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:148515006_148515009delTTCT	ENST00000460911.1	-	10	1273_1276	c.1185_1188delAGAA	c.(1183-1188)aaagaafs	p.KE395fs	EZH2_ENST00000483967.1_Frame_Shift_Del_p.KE386fs|EZH2_ENST00000476773.1_Frame_Shift_Del_p.KE386fs|EZH2_ENST00000541220.1_Frame_Shift_Del_p.KE386fs|EZH2_ENST00000350995.2_Frame_Shift_Del_p.KE356fs|EZH2_ENST00000320356.2_Frame_Shift_Del_p.KE400fs|EZH2_ENST00000478654.1_Frame_Shift_Del_p.KE386fs			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	395	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.E401fs*22(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTTCTTCTTCTTTATCATTGT	0.456			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		1	Deletion - Frameshift(1)	p.E401fs*22(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1183-1188)aaagaafs		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515006_148515009delTTCT		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1185_1188delAGAA	7.37:g.148515006_148515009delTTCT	ENSP00000419711:p.Lys395fs					EZH2_uc022aov.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kug.2_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.2_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.2_Non-coding_Transcript	p.K395fs	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		9	1378_1381	-	Melanoma(164;0.15)		395					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Frame_Shift_Del	DEL	ENST00000460911.1	37	c.1185_1188delAGAA	CCDS56516.1																																																																																				0.456	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		-	148515009	TTCT	-	148515006	7	5	113	1	0	1	0	1	0	0	0	0	5334	1606	56	0	1096	0	EZH2	7	148515006	Frame_Shift_Del	DEL	TTCT	TCGA-12-0618-01A-01D-1492-08	41083335	148515006	10623657	33	7673											
BMP1	649	broad.mit.edu	37	chr8	22069181	22069181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgacaccatcaccaaaaaAggtttccacctgcgatacac	15	7	6	13	1	1	1	1	1	0	0	2	3	2	1	4	1	2	1	4	1	4	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:22069181A>G	ENST00000306385.5	+	20	3571	c.2901A>G	c.(2899-2901)aaA>aaG	p.K967K	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	967	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCACCAAAAAAGGTTTCCACC	0.577																																						uc003xbg.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2899-2901)aaA>aaG		Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.							138	115	123					8																	22069181		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22069181A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2901A>G	8.37:g.22069181A>G						BMP1_uc011kzc.2_Silent_p.K716K|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	p.K967K	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3167	+			967			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2901A>G	CCDS6026.1																																																																																				0.577	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		G	22069181	A	G	22069181	2	3	113	1	0	0	0	0	0	0	0	1	1456	69	3	4		4	BMP1	8	22069181	Silent	SNP	A	TCGA-12-0618-01A-01D-1492-08		22069181	124294841	34	7674											
EYA1	2138	broad.mit.edu	37	chr8	72156896	72156896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatcatttcttccattCgcagtccaagggaaactgaa	14	11	7	9	1	2	2	1	2	1	0	5	3	4	3	2	1	1	1	2	1	5	3	rs145219836		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:72156896C>A	ENST00000340726.3	-	12	1721	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L	EYA1_ENST00000388740.3_Missense_Mutation_p.R328L|EYA1_ENST00000388742.4_Missense_Mutation_p.R361L|EYA1_ENST00000303824.7_Missense_Mutation_p.R355L|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388741.2_Missense_Mutation_p.R327L|EYA1_ENST00000388743.2_Missense_Mutation_p.R360L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	361					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.R361L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCATTCGCAGTCCAAG	0.323																																						uc003xyu.3																			1	Substitution - Missense(1)	p.R361L(2)	central_nervous_system(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1081-1083)cGa>cTa		Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.							62	61	62					8																	72156896		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72156896C>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1082G>T	8.37:g.72156896C>A	ENSP00000342626:p.Arg361Leu					EYA1_uc003xyt.4_Missense_Mutation_p.R328L|EYA1_uc003xyr.4_Intron|EYA1_uc010lzf.3_Missense_Mutation_p.R288L|EYA1_uc003xys.4_Missense_Mutation_p.R361L|EYA1_uc011lfe.2_Missense_Mutation_p.R355L|EYA1_uc003xyv.3_Missense_Mutation_p.R239L	p.R361L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		11	1722	-	Breast(64;0.046)		361					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1082G>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417539	0.96092	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.64	5.64	0.86602	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.065881	0.64402	D	0.000003	D	0.90003	0.6879	M	0.80332	2.49	0.80722	D	1	P;P;P;P	0.47350	0.712;0.798;0.894;0.712	B;P;P;B	0.54664	0.257;0.693;0.758;0.257	D	0.89589	0.3826	10	0.48119	T	0.1	-11.7108	19.7123	0.96100	0.0:1.0:0.0:0.0	.	355;288;328;361	A6NCB9;Q0P517;Q99502-2;Q99502	.;.;.;EYA1_HUMAN	L	361;361;329;328;355;327;360	ENSP00000373394:R361L;ENSP00000342626:R361L;ENSP00000373392:R328L;ENSP00000303221:R355L;ENSP00000373393:R327L;ENSP00000373395:R360L	ENSP00000303221:R355L	R	-	2	0	EYA1	72319450	1.000000	0.71417	0.944000	0.38274	0.990000	0.78478	7.741000	0.84997	2.664000	0.90586	0.650000	0.86243	CGA		0.323	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		A	72156896	C	A	72156896	3	1	113	1	0	0	0	0	1	0	0	0	5328	884	31	5	724	5	EYA1	8	72156896	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	50087715	72156896	74207126	35	7675											
DECR1	1666	broad.mit.edu	37	chr8	91031335	91031335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcaattcagtgtgatGtgagggatcctgatatggtt	9	15	12	5	0	2	3	2	3	0	0	3	4	3	4	1	2	1	2	1	2	2	4	rs202215448		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:91031335G>A	ENST00000220764.2	+	4	440	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	DECR1_ENST00000522161.1_Missense_Mutation_p.V109M|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	118					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTGTGATGTGAGGGATCC	0.363																																						uc003yek.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(352-354)Gtg>Atg		Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.		G	MET/VAL	0,4406		0,0,2203	172	150	157		352	4.4	1	8		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	DECR1	NM_001359.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	118/336	91031335	1,13005	2203	4300	6503	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91031335G>A	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.352G>A	8.37:g.91031335G>A	ENSP00000220764:p.Val118Met					DECR1_uc011lgc.1_Missense_Mutation_p.V109M|DECR1_uc011lgd.1_Non-coding_Transcript	p.V118M	NM_001359	NP_001350	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		3	493	+			118					B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.352G>A	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340890	0.81911	0.0	1.16E-4	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.90900	1.5;-2.75;1.5;-2.75;-2.75	6.17	4.4	0.53042	NAD(P)-binding domain (1);	0.058055	0.64402	D	0.000002	D	0.96340	0.8806	H	0.94808	3.585	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.73380	0.974;0.98	D	0.96711	0.9525	10	0.87932	D	0	.	13.4192	0.60987	0.1269:0.0:0.8731:0.0	.	109;118	B7Z6B8;Q16698	.;DECR_HUMAN	M	118;96;109;109;68	ENSP00000220764:V118M;ENSP00000430561:V96M;ENSP00000429779:V109M;ENSP00000427936:V109M;ENSP00000429096:V68M	ENSP00000220764:V118M	V	+	1	0	DECR1	91100511	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.117000	0.64667	0.948000	0.37687	-0.137000	0.14449	GTG		0.363	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			A	91031335	G	A	91031335	3	1	113	1	0	0	0	0	1	0	0	0	4382	1377	48	3	366	3	DECR1	8	91031335	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	18874439	91031335	55332687	36	7676											
PRDM12	59335	broad.mit.edu	37	chr9	133543671	133543671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggtggtccagatcGgcaccagcatcttctacaag	10	8	11	12	1	2	1	0	0	2	1	4	2	3	2	3	4	2	2	3	4	2	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:133543671G>A	ENST00000253008.2	+	3	601	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	181	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGTCCAGATCGGCACCAGCAT	0.582																																						uc004bzt.1																			0		p.I180I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(541-543)Ggc>Agc		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							210	158	175					9																	133543671		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133543671G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.541G>A	9.37:g.133543671G>A	ENSP00000253008:p.Gly181Ser						p.G181S	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	601	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	181			SET.		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.541G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166295	0.78339	.	.	ENSG00000130711	ENST00000253008	T	0.41065	1.01	5.21	5.21	0.72293	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	L	0.35723	1.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.51803	-0.8659	10	0.36615	T	0.2	-40.5646	17.7439	0.88414	0.0:0.0:1.0:0.0	.	181	Q9H4Q4	PRD12_HUMAN	S	181	ENSP00000253008:G181S	ENSP00000253008:G181S	G	+	1	0	PRDM12	132533492	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.238000	0.95380	2.423000	0.82170	0.655000	0.94253	GGC		0.582	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		A	133543671	G	A	133543671	3	1	113	1	0	0	0	0	1	0	0	0	12453	1116	39	2	551	2	PRDM12	9	133543671	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		133543671	7669760	37	7677											
PTEN	5728	broad.mit.edu	37	chr10	89653779	89653780	+	Intron	INS	-	-	AGAT																															tttccttaactaaagtactcINSagatatttatccaaacatta																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:89653779_89653780insAGAT	ENST00000371953.3	+	2	1436					NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAAAGTACTCAGATATTTATC	0.312		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		41	Whole gene deletion(37)|Unknown(4)	p.0?(37)|p.?(4)	prostate(14)|central_nervous_system(8)|skin(6)|lung(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e2-2		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001627	intron_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653779_89653780insAGAT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.80-2->AGAT	10.37:g.89653780_89653783dupAGAT		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.Y27_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1112	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	27		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	INS	ENST00000371953.3	37	c.80_splice	CCDS31238.1																																																																																				0.312	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		AGAT	89653780	-	AGAT	89653779	6	5	113	0	1	1	1	0	0	0	0	0	12738	841	29	0		0	PTEN	10	89653779	Intron	INS	-	TCGA-12-0618-01A-01D-1492-08		89653779	45880968	38	7678											
HBG2	3048	broad.mit.edu	37	chr11	5275527	5275527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcctggactcaccttgaAgttctcaggatccacatgca	10	11	7	13	0	3	1	2	1	2	0	6	3	4	3	3	2	1	2	3	2	1	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:5275527A>G	ENST00000380259.2	-	7	1550	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	HBG2_ENST00000380252.1_Missense_Mutation_p.F94L|HBG2_ENST00000336906.4_Missense_Mutation_p.F104L			P69892	HBG2_HUMAN	hemoglobin, gamma G	104					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACCTTGAAGTTCTCAGGA	0.498																																						uc001mai.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(310-312)Ttc>Ctc		Homo sapiens hemoglobin, gamma A (HBG1), mRNA.							162	125	137					11																	5275527		2201	4298	6499	SO:0001583	missense	3048				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr11:5275527A>G	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.310T>C	11.37:g.5275527A>G	ENSP00000369609:p.Phe104Leu					HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.F104L	p.F104L	NM_000559	NP_000550	P69891	HBG1_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	747	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	104					A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.310T>C	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623374	0.87460	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.97906	-4.6;-4.6;-4.6	4.08	4.08	0.47627	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.99149	0.9706	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98763	1.0725	9	0.87932	D	0	.	12.3307	0.55038	1.0:0.0:0.0:0.0	.	104;104	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	L	94;104;104;104	ENSP00000369602:F94L;ENSP00000369609:F104L;ENSP00000338082:F104L	ENSP00000338082:F104L	F	-	1	0	HBG2	5232103	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	8.650000	0.91073	1.822000	0.53115	0.528000	0.53228	TTC		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		G	5275527	A	G	5275527	3	3	113	1	0	0	0	0	1	0	0	0	6983	72	3	4	141	4	HBG2	11	5275527	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08		5275527	129730989	39	7679											
SPRYD5	84767	broad.mit.edu	37	chr11	55653609	55653610	+	Frame_Shift_Ins	INS	-	-	A																															gttttgcaggaggagctcctINSaaaaaaaatgcagtctttat																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:55653609_55653610insA	ENST00000449290.2	+	3	514_515	c.422_423insA	c.(421-426)ctaaaafs	p.LK141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GAGGAGCTCCTAAAAAAAATGC	0.401																																						uc010rip.2																			0											c.(421-423)ctafs		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.																																				SO:0001589	frameshift_variant	84767					intracellular	zinc ion binding	g.chr11:55653609_55653610insA	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.430dupA	11.37:g.55653617_55653617dupA	ENSP00000395086:p.Leu141fs					TRIM51_uc010riq.2_5'UTR	p.L141fs	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	514_515	+			141					A6NMG2	Frame_Shift_Ins	INS	ENST00000449290.2	37	c.422_423insA																																																																																					0.401	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55653610	-	A	55653609	7	5	113	1	0	1	1	0	0	0	0	0	15110	1522	53	0	428	0	SPRYD5	11	55653609	Frame_Shift_Ins	INS	-	TCGA-12-0618-01A-01D-1492-08	50378082	55653609	79352907	40	7680											
INCENP	3619	broad.mit.edu	37	chr11	61898063	61898063	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctggccgcatcatctGtgagtctgggggcttggcag	4	11	15	11	1	4	1	1	1	3	0	4	1	4	1	2	4	1	3	2	4	0	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:61898063G>A	ENST00000394818.3	+	4	1265		c.e4+1		INCENP_ENST00000278849.4_Splice_Site	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa						chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCATCATCTGTGAGTCTGGG	0.587																																						uc001nsw.1																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.e4+1		Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.							27	28	28					11																	61898063		2192	4281	6473	SO:0001630	splice_region_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61898063G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1063+1G>A	11.37:g.61898063G>A						INCENP_uc009ynv.3_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	p.C355_splice	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			4	1265	+			355					A8MQD2|Q5Y192	Splice_Site	SNP	ENST00000394818.3	37	c.1063_splice	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082730	0.55861	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	.	.	.	5.21	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0066	0.41961	0.0941:0.0:0.9059:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INCENP	61654639	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.684000	0.61686	1.201000	0.43203	0.462000	0.41574	.		0.587	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	Intron	A	61898063	G	A	61898063	5	1	113	1	0	0	0	0	0	0	1	0	7733	1391	48	3	1074	3	INCENP	11	61898063	Splice_Site	SNP	G	TCGA-12-0618-01A-01D-1492-08	6244454	61898063	73108453	41	7681											
MYEOV	26579	broad.mit.edu	37	chr11	69063304	69063304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcagaagacgtggaCgtgtcccgggccaggagggt	9	4	19	9	3	0	2	0	0	0	2	1	5	1	5	2	6	0	1	2	6	1	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:69063304C>A	ENST00000308946.3	+	3	837	c.387C>A	c.(385-387)gaC>gaA	p.D129E	MYEOV_ENST00000535407.1_Missense_Mutation_p.D71E|MYEOV_ENST00000441339.2_Missense_Mutation_p.D129E	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	129										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AAGACGTGGACGTGTCCCGGG	0.617																																						uc001oov.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(385-387)gaC>gaA		Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.							144	137	140					11																	69063304		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063304C>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.387C>A	11.37:g.69063304C>A	ENSP00000308330:p.Asp129Glu					MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.D129E|MYEOV_uc001oow.3_Missense_Mutation_p.D71E	p.D129E	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	837	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		129					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.387C>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	7.520	0.656480	0.14580	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.24350	1.87;1.87;1.86	1.06	-1.29	0.09288	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.28681	-1.0036	9	0.87932	D	0	.	6.5229	0.22285	0.0:0.6783:0.0:0.3217	.	129	Q96EZ4	MYEOV_HUMAN	E	129;129;71	ENSP00000412482:D129E;ENSP00000308330:D129E;ENSP00000438100:D71E	ENSP00000308330:D129E	D	+	3	2	MYEOV	68819880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-1.202000	0.02655	-1.564000	0.00881	GAC		0.617	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			A	69063304	C	A	69063304	3	1	113	1	0	0	0	0	1	0	0	0	10025	535	19	5	393	5	MYEOV	11	69063304	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	7165241	69063304	65943212	42	7682											
VWF	7450	broad.mit.edu	37	chr12	6127617	6127617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcctctcgggggagcGtctcaaagtcctggatgagg	8	7	16	10	2	2	1	1	1	2	0	5	4	3	4	2	5	2	0	2	5	1	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:6127617G>A	ENST00000261405.5	-	28	5221	c.4967C>T	c.(4966-4968)aCg>aTg	p.T1656M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1656	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGGAGCGTCTCAAAGTC	0.632																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4966-4968)aCg>aTg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						41	38	39					12																	6127617		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6127617G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4967C>T	12.37:g.6127617G>A	ENSP00000261405:p.Thr1656Met					VWF_uc010set.1_Intron	p.T1656M	NM_000552	NP_000543	P04275	VWF_HUMAN			27	5217	-			1656			VWFA 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4967C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	8.841	0.942245	0.18281	.	.	ENSG00000110799	ENST00000261405	T	0.78481	-1.18	5.03	-8.17	0.01057	von Willebrand factor, type A (2);	2.374640	0.01795	N	0.032545	T	0.63105	0.2483	L	0.38175	1.15	0.09310	N	1	P	0.40834	0.73	B	0.40982	0.345	T	0.61063	-0.7138	10	0.41790	T	0.15	.	1.5934	0.02659	0.3527:0.2938:0.1986:0.1549	.	1656	P04275	VWF_HUMAN	M	1656	ENSP00000261405:T1656M	ENSP00000261405:T1656M	T	-	2	0	VWF	5997878	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-2.696000	0.00827	-1.453000	0.01928	-0.378000	0.06908	ACG		0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6127617	G	A	6127617	3	1	113	1	0	0	0	0	1	0	0	0	17243	1145	40	1	3574	1	VWF	12	6127617	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		6127617	127724278	43	7683											
MDM2	4193	broad.mit.edu	37	chr12	69229607	69229607	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatatttttttcttgttttAggatcttgatgctggtgtaa	8	22	8	3	0	2	1	0	1	2	0	2	2	2	2	0	2	1	3	0	2	4	10			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:69229607A>G	ENST00000350057.5	+	7	591		c.e7-1		MDM2_ENST00000356290.4_Splice_Site|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Splice_Site|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000360430.2_Splice_Site|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Splice_Site|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000428863.2_Splice_Site|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Splice_Site|MDM2_ENST00000258148.7_Splice_Site|MDM2_ENST00000540827.1_Splice_Site|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Splice_Site			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase						cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCTTGTTTTAGGATCTTGAT	0.398			A		"sarcoma, glioma, colorectal, other"																																	uc021rad.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.e8-2		Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.							147	138	141					12																	69229607		1848	4099	5947	SO:0001630	splice_region_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69229607A>G		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.592-1A>G	12.37:g.69229607A>G						MDM2_uc001sui.3_Splice_Site_p.D229_splice|MDM2_uc009zqx.3_Splice_Site_p.D174_splice|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc021rae.1_Splice_Site_p.D218_splice|MDM2_uc001sun.4_Splice_Site_p.D48_splice|MDM2_uc009zra.3_Splice_Site_p.D48_splice|MDM2_uc021raf.1_Splice_Site|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Splice_Site|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Splice_Site_p.D23_splice|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Splice_Site_p.D23_splice|MDM2_uc021rag.1_Splice_Site|MDM2_uc021rah.1_Splice_Site_p.D193_splice|MDM2_uc021rai.1_Splice_Site|MDM2_uc021raj.1_Intron	p.D122_splice			Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		8	838	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		223					A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Splice_Site	SNP	ENST00000350057.5	37	c.364_splice		.	.	.	.	.	.	.	.	.	.	A	11.70	1.717467	0.30413	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000543323;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430;ENST00000348801	.	.	.	4.73	0.659	0.17861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8815	0.46942	0.7864:0.0:0.0:0.2136	.	.	.	.	.	-1	.	.	.	+	.	.	MDM2	67515874	1.000000	0.71417	0.184000	0.23157	0.717000	0.41224	7.336000	0.79245	0.006000	0.14734	0.377000	0.23210	.		0.398	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	Intron	G	69229607	A	G	69229607	5	3	113	1	0	0	0	0	0	0	1	0	9413	434	15	4	717	4	MDM2	12	69229607	Splice_Site	SNP	A	TCGA-12-0618-01A-01D-1492-08	63101990	69229607	64622288	44	7684											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100491231	100491231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagatgtgaactttgggtgGcatctgcctctattcttatc	8	15	9	9	0	3	2	0	1	3	1	4	2	3	2	1	2	2	1	1	2	4	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:100491231G>A	ENST00000279907.7	-	6	793	c.581C>T	c.(580-582)gCc>gTc	p.A194V	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.A194V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	194										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTGGGTGGCATCTGCCTC	0.353																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(580-582)gCc>gTc		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.							139	123	128					12																	100491231		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100491231G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.581C>T	12.37:g.100491231G>A	ENSP00000279907:p.Ala194Val					UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A194V	p.A194V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			5	810	-			194					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.581C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861743	0.91433	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	T;T	0.34275	2.69;1.37	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.91635	0.831;0.999	T	0.61382	-0.7074	10	0.72032	D	0.01	-17.7547	19.6582	0.95853	0.0:0.0:1.0:0.0	.	194;194	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	V	194	ENSP00000279907:A194V;ENSP00000349285:A194V	ENSP00000279907:A194V	A	-	2	0	UHRF1BP1L	99015362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	2.714000	0.92807	0.655000	0.94253	GCC		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		A	100491231	G	A	100491231	3	1	113	1	0	0	0	0	1	0	0	0	16966	1203	42	3	3901	3	UHRF1BP1L	12	100491231	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	31261624	100491231	33360664	45	7685											
OAS2	4939	broad.mit.edu	37	chr12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caataccaccttggaaagtgCcggtaaaagtcatctaaagg	15	8	9	9	1	2	0	1	0	1	0	2	1	2	1	3	3	2	1	3	3	7	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:113447043C>T	ENST00000342315.4	+	10	2261	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.P683S	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2047-2049)Ccg>Tcg		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.							183	183	183					12																	113447043		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447043C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2047C>T	12.37:g.113447043C>T	ENSP00000342278:p.Pro683Ser					OAS2_uc001tui.1_Missense_Mutation_p.P683S	p.P683S	NM_016817	NP_058197	P29728	OAS2_HUMAN			9	2187	+			683			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2047C>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.579288	0.46006	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.41400	1.0;1.0	4.39	3.5	0.40072	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.809574	0.10268	N	0.695164	T	0.60287	0.2257	M	0.61703	1.905	0.30815	N	0.738447	D;P	0.89917	1.0;0.932	D;P	0.91635	0.999;0.643	T	0.55444	-0.8140	10	0.45353	T	0.12	-29.1712	10.3375	0.43858	0.0:0.8006:0.1994:0.0	.	683;683	P29728;P29728-2	OAS2_HUMAN;.	S	683	ENSP00000342278:P683S;ENSP00000376362:P683S	ENSP00000342278:P683S	P	+	1	0	OAS2	111931426	0.043000	0.20138	0.086000	0.20670	0.003000	0.03518	0.433000	0.21477	1.074000	0.40909	-0.122000	0.15005	CCG		0.458	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113447043	C	T	113447043	3	4	113	1	0	0	0	0	1	0	0	0	10800	739	26	3	2156	3	OAS2	12	113447043	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	12955812	113447043	20404852	46	7686											
KIAA0564	23078	broad.mit.edu	37	chr13	42481750	42481750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaaggctgtgcctgcaCggatctctcgtcgctgtttg	6	13	12	10	3	1	0	0	0	1	0	4	1	1	1	1	2	2	5	1	2	2	2	rs200022468		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:42481750C>T	ENST00000379310.3	-	4	523	c.455G>A	c.(454-456)cGt>cAt	p.R152H	RNU6-74P_ENST00000384235.1_RNA|VWA8_ENST00000281496.6_Missense_Mutation_p.R152H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	152						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGTGCCTGCACGGATCTCTCG	0.458													C|||	1	0.000199681	0	0	5008	,	,		17838	0		0.001	False		,,,				2504	0					uc001uyj.3																			0				endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(454-456)cGt>cAt		Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.							190	151	165					13																	42481750		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42481750C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.455G>A	13.37:g.42481750C>T	ENSP00000368612:p.Arg152His					KIAA0564_uc001uyk.3_Missense_Mutation_p.R152H	p.R152H	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	3	525	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	152					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.455G>A	CCDS41881.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.24	3.788773	0.70337	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.55760	0.5;0.5	5.07	5.07	0.68467	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000003	T	0.44912	0.1316	L	0.41573	1.285	0.58432	D	0.999998	P	0.42584	0.784	B	0.34452	0.183	T	0.53865	-0.8378	10	0.66056	D	0.02	.	18.8058	0.92037	0.0:1.0:0.0:0.0	.	152	A3KMH1	K0564_HUMAN	H	56;152;152;152	ENSP00000368612:R152H;ENSP00000281496:R152H	ENSP00000251030:R56H	R	-	2	0	KIAA0564	41379750	1.000000	0.71417	0.952000	0.39060	0.855000	0.48748	5.821000	0.69257	2.518000	0.84900	0.591000	0.81541	CGT		0.458	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42481750	C	T	42481750	3	4	113	1	0	0	0	0	1	0	0	0	8185	536	19	1	5434	1	KIAA0564	13	42481750	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		42481750	72688128	47	7687											
TRIM13	10206	broad.mit.edu	37	chr13	50587073	50587073	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcattgtctttggtcctAccatgttcctagaatggtca	7	17	8	9	0	3	1	2	0	1	1	5	1	5	1	3	2	1	1	3	2	3	6			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:50587073A>T	ENST00000378182.3	+	2	1735	c.997A>T	c.(997-999)Acc>Tcc	p.T333S	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.T336S|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.T336S|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000457662.2_Missense_Mutation_p.T333S|TRIM13_ENST00000420995.2_Missense_Mutation_p.T333S	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	333					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTTGGTCCTACCATGTTCCT	0.408																																						uc001vdp.1																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1006-1008)Acc>Tcc		Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.							206	213	210					13																	50587073		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50587073A>T	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.997A>T	13.37:g.50587073A>T	ENSP00000367424:p.Thr333Ser					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.T333S|TRIM13_uc001vdr.1_Missense_Mutation_p.T333S|TRIM13_uc001vds.1_Missense_Mutation_p.T333S|TRIM13_uc021rjq.1_Missense_Mutation_p.T333S	p.T336S	NM_001007278	NP_998755	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	3	1424	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	333					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.1006A>T	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	5.492	0.275786	0.10403	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.24908	1.83;1.83;2.37;1.83;2.37	5.81	1.95	0.26073	.	0.542255	0.20544	N	0.090243	T	0.10035	0.0246	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.20940	-1.0260	9	.	.	.	-0.0238	1.2122	0.01907	0.5308:0.1506:0.1732:0.1454	.	333;336	O60858;O60858-3	TRI13_HUMAN;.	S	333;333;336;333;336	ENSP00000412943:T333S;ENSP00000367424:T333S;ENSP00000348299:T336S;ENSP00000399206:T333S;ENSP00000298772:T336S	.	T	+	1	0	TRIM13	49485074	0.232000	0.23762	0.224000	0.23877	0.962000	0.63368	1.218000	0.32467	0.472000	0.27344	0.533000	0.62120	ACC		0.408	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		T	50587073	A	T	50587073	3	4	113	1	0	0	0	0	1	0	0	0	16485	391	14	5	1012	5	TRIM13	13	50587073	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08	8105323	50587073	64582805	48	7688											
SLITRK6	84189	broad.mit.edu	37	chr13	86369237	86369237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtaaaacttggaggagGttgttatttaaatacaggac	13	12	13	3	0	0	0	0	0	0	0	0	3	0	3	0	6	2	3	0	6	6	7	rs372239591		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:86369237G>T	ENST00000400286.2	-	2	2005	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	469					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTGGAGGAGGTTGTTATTTA	0.328																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1405-1407)aaC>aaA		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							77	75	76					13																	86369237		1796	4068	5864	SO:0001583	missense	84189					integral to membrane		g.chr13:86369237G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1407C>A	13.37:g.86369237G>T	ENSP00000383143:p.Asn469Lys					SLITRK6_uc021rla.1_Missense_Mutation_p.N469K	p.N469K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	1866	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		469	N -> H (in Ref. 1).				A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1407C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336930	0.41398	.	.	ENSG00000184564	ENST00000400286	T	0.74421	-0.84	5.86	-1.08	0.09936	.	0.000000	0.64402	U	0.000001	D	0.89719	0.6796	H	0.98629	4.285	0.45634	D	0.998562	D	0.89917	1.0	D	0.91635	0.999	D	0.89888	0.4035	10	0.72032	D	0.01	-10.8171	11.7522	0.51855	0.5654:0.0:0.4346:0.0	.	469	Q9H5Y7	SLIK6_HUMAN	K	469	ENSP00000383143:N469K	ENSP00000383143:N469K	N	-	3	2	SLITRK6	85267238	1.000000	0.71417	0.629000	0.29254	0.928000	0.56348	0.692000	0.25482	-0.157000	0.11059	0.655000	0.94253	AAC		0.328	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86369237	G	T	86369237	3	4	113	1	0	0	0	0	1	0	0	0	14747	1252	44	5	1122	5	SLITRK6	13	86369237	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	35782164	86369237	28800641	49	7689											
C14orf174	161394	broad.mit.edu	37	chr14	77843838	77843839	+	Frame_Shift_Ins	INS	-	-	TG																															cctgagaggcctgaactgccINStggacttcataaattgtatg																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:77843838_77843839insTG	ENST00000216471.4	+	1	363_364	c.77_78insTG	c.(76-81)cctggafs	p.G27fs	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	27										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGAACTGCCTGGACTTCATA	0.54																																						uc001xtq.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(76-78)cctfs		Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.																																				SO:0001589	frameshift_variant	161394							g.chr14:77843838_77843839insTG	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.78_79dupTG	14.37:g.77843839_77843840dupTG	ENSP00000216471:p.Gly27fs					TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Frame_Shift_Ins_p.P26fs	p.P26fs	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN			0	77_78	+			26					Q2M3P3	Frame_Shift_Ins	INS	ENST00000216471.4	37	c.77_78insTG	CCDS32126.1																																																																																				0.54	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		TG	77843839	-	TG	77843838	7	5	113	1	0	1	1	0	0	0	0	0	1759	681	24	0	79	0	C14orf174	14	77843838	Frame_Shift_Ins	INS	-	TCGA-12-0618-01A-01D-1492-08		77843838	29505702	50	7690											
SERPINA11	256394	broad.mit.edu	37	chr14	94912764	94912764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggaggaccagcagcGccaaggcatttcctctgtat	9	8	13	11	1	2	0	1	0	1	0	3	2	3	2	3	4	2	3	3	4	2	2	rs563316230		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:94912764G>A	ENST00000334708.3	-	3	885	c.821C>T	c.(820-822)gCg>gTg	p.A274V	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	274					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACCAGCAGCGCCAAGGCATT	0.547													G|||	1	0.000199681	0	0	5008	,	,		19489	0		0	False		,,,				2504	0.001					uc001ydd.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(820-822)gCg>gTg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							116	105	109					14																	94912764		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94912764G>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.821C>T	14.37:g.94912764G>A	ENSP00000335024:p.Ala274Val						p.A274V	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	881	-			274					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.821C>T	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640726	0.29157	.	.	ENSG00000186910	ENST00000334708	D	0.84298	-1.83	5.53	0.416	0.16416	Serpin domain (3);	0.606715	0.14437	N	0.319661	D	0.88562	0.6470	M	0.78456	2.415	0.09310	N	1	D	0.56035	0.974	P	0.55965	0.788	T	0.79899	-0.1608	10	0.51188	T	0.08	.	10.0241	0.42061	0.3949:0.0:0.6051:0.0	.	274	Q86U17	SPA11_HUMAN	V	274	ENSP00000335024:A274V	ENSP00000335024:A274V	A	-	2	0	SERPINA11	93982517	0.939000	0.31865	0.016000	0.15963	0.063000	0.16089	2.292000	0.43549	0.133000	0.18654	0.555000	0.69702	GCG		0.547	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		A	94912764	G	A	94912764	3	1	113	1	0	0	0	0	1	0	0	0	14088	1087	38	1	459	1	SERPINA11	14	94912764	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	17068926	94912764	12436776	51	7691											
GATM	2628	broad.mit.edu	37	chr15	45658329	45658329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatgcatgggattgggaTctttaaaggagatgatatgc	13	12	12	4	0	1	2	0	1	1	1	1	5	1	4	0	3	2	1	0	3	5	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr15:45658329T>C	ENST00000396659.3	-	6	1232	c.893A>G	c.(892-894)gAt>gGt	p.D298G	GATM_ENST00000558336.1_Missense_Mutation_p.D298G	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	298					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGGATTGGGATCTTTAAAGGA	0.428																																						uc001zvc.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(892-894)gAt>gGt		Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						175	156	163					15																	45658329		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45658329T>C	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.893A>G	15.37:g.45658329T>C	ENSP00000379895:p.Asp298Gly					GATM_uc001zvb.3_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	p.D298G	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	5	1222	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	298					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.893A>G	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652409	0.67472	.	.	ENSG00000171766	ENST00000396659	T	0.46451	0.87	4.95	4.95	0.65309	.	0.084638	0.85682	D	0.000000	T	0.60287	0.2257	M	0.76328	2.33	0.80722	D	1	D;D	0.61697	0.987;0.99	P;D	0.63033	0.855;0.91	T	0.62039	-0.6938	10	0.45353	T	0.12	-18.8222	12.8664	0.57941	0.0:0.0:0.0:1.0	.	298;298	P50440-3;P50440	.;GATM_HUMAN	G	298	ENSP00000379895:D298G	ENSP00000379895:D298G	D	-	2	0	GATM	43445621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.388000	0.79795	2.198000	0.70561	0.533000	0.62120	GAT		0.428	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		C	45658329	T	C	45658329	3	2	113	1	0	0	0	0	1	0	0	0	6263	1435	50	4	394	4	GATM	15	45658329	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08		45658329	56873063	52	7692											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-																															tggaggtccctttggcttagCcaccaccaccaccacctcct																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						uc002dhc.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gtggct>gct		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.V565del	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			11	1917_1919	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		-	20370702	CCA	-	20370700	7	5	113	1	0	1	0	1	0	0	0	0	11674	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-12-0618-01A-01D-1492-08		20370700	69984053	53	7693											
NUP88	4927	broad.mit.edu	37	chr17	5322843	5322843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaaggcaacgacgaagaaGctggtttctcagcttcggtt	11	9	12	9	4	1	1	1	0	1	1	3	4	1	1	0	3	3	5	0	3	4	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:5322843G>A	ENST00000573584.1	-	1	637	c.128C>T	c.(127-129)gCt>gTt	p.A43V	RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	43					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGACGAAGAAGCTGGTTTCTC	0.602																																						uc010vsx.2																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(127-129)gCt>gTt		Homo sapiens nucleoporin 88kDa (NUP88), mRNA.							99	96	97					17																	5322843		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322843G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.128C>T	17.37:g.5322843G>A	ENSP00000458954:p.Ala43Val					NUP88_uc002gbo.2_Missense_Mutation_p.A43V|NUP88_uc010cle.2_Missense_Mutation_p.A43V|NUP88_uc010vsy.2_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	p.A43V	NM_002532	NP_002523	Q99567	NUP88_HUMAN			0	217	-			43					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.128C>T	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422518	0.62622	.	.	ENSG00000108559	ENST00000225696	.	.	.	4.98	-1.67	0.08238	.	0.854566	0.10225	N	0.700441	T	0.27098	0.0664	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.24083	-1.0170	9	0.30854	T	0.27	-13.3692	2.0998	0.03677	0.1168:0.1504:0.2741:0.4588	.	43;43	B7Z5I6;Q99567	.;NUP88_HUMAN	V	43	.	ENSP00000225696:A43V	A	-	2	0	NUP88	5263567	0.003000	0.15002	0.000000	0.03702	0.745000	0.42441	1.046000	0.30354	-0.019000	0.14055	-1.028000	0.02416	GCT		0.602	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		A	5322843	G	A	5322843	3	1	113	1	0	0	0	0	1	0	0	0	10771	971	34	3	2165	3	NUP88	17	5322843	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		5322843	75872367	54	7694											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132	103	113					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.C238Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577568	C	T	7577568	3	4	113	1	0	0	0	0	1	0	0	0	16378	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	2254725	7577568	73617642	55	7695											
ZCCHC2	54877	broad.mit.edu	37	chr18	60243794	60243794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccccttctaatgatacGttggattctgcagactgaaa	10	12	7	12	1	2	3	0	2	2	1	3	4	3	4	3	1	2	2	3	1	3	5	rs376639243		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr18:60243794G>A	ENST00000269499.5	+	14	3937	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	ZCCHC2_ENST00000586834.1_Silent_p.T852T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1173						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAATGATACGTTGGATTCTG	0.468																																						uc002lip.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(3517-3519)acG>acA		Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.		G		1,3937		0,1,1968	151	138	142		3519	5.6	1	18		142	0,8310		0,0,4155	no	coding-synonymous	ZCCHC2	NM_017742.4		0,1,6123	AA,AG,GG		0.0,0.0254,0.0082		1173/1179	60243794	1,12247	1969	4155	6124	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60243794G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3519G>A	18.37:g.60243794G>A						ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.T643T	p.T1173T	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	3519	+			1173					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.3519G>A	CCDS45880.1																																																																																				0.468	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		A	60243794	G	A	60243794	2	1	113	1	0	0	0	0	0	0	0	1	17584	1132	40	1		1	ZCCHC2	18	60243794	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08		60243794	17833454	56	7696											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531967	7531967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgcagcttgtccagcGgatccagacactgtcccagc	7	8	9	17	2	1	1	0	0	1	1	5	2	4	2	4	1	3	2	4	1	0	1	rs150543189		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:7531967G>A	ENST00000359920.6	+	15	2661	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G761R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R645Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	803					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTTGTCCAGCGGATCCAGACA	0.672																																						uc002mgi.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2407-2409)cGg>cAg		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	67	70	69		2408,1934	4.3	0.2	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGEF18	NM_001130955.1,NM_015318.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	803/1174,645/1016	7531967	1,13005	2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7531967G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2408G>A	19.37:g.7531967G>A	ENSP00000352995:p.Arg803Gln					ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	p.R803Q	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN			14	2661	+		Renal(5;0.0902)	803					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2408G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770033	0.49680	0.0	1.16E-4	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.42131	0.98;0.98	5.38	4.34	0.51931	.	0.000000	0.52532	D	0.000063	T	0.54532	0.1864	M	0.67953	2.075	0.23162	N	0.998197	D;P	0.76494	0.999;0.81	D;B	0.64506	0.926;0.282	T	0.46190	-0.9209	10	0.19590	T	0.45	-30.1719	9.6159	0.39692	0.0958:0.0:0.9042:0.0	.	645;803	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	Q	645;803	ENSP00000319200:R645Q;ENSP00000352995:R803Q	ENSP00000319200:R645Q	R	+	2	0	ARHGEF18	7437967	0.997000	0.39634	0.163000	0.22734	0.069000	0.16628	5.656000	0.67988	1.270000	0.44297	0.561000	0.74099	CGG		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		A	7531967	G	A	7531967	3	1	113	1	0	0	0	0	1	0	0	0	901	1116	39	2	2466	2	ARHGEF18	19	7531967	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		7531967	51597016	57	7697											
ZNF492	57615	broad.mit.edu	37	chr19	22846654	22846654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaagcagggcaaaaaaaaTtatttccaaaaagtgatact	20	8	6	7	0	0	1	0	1	0	0	1	1	1	1	2	1	2	2	2	1	9	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:22846654T>A	ENST00000456783.2	+	4	427	c.183T>A	c.(181-183)aaT>aaA	p.N61K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N61K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAAAAAAATTATTTCCAAA	0.318																																						uc002nqw.3																			1	Substitution - Missense(1)	p.N61K(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(181-183)aaT>aaA		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.							24	29	27					19																	22846654		1808	4099	5907	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846654T>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.183T>A	19.37:g.22846654T>A	ENSP00000413660:p.Asn61Lys						p.N61K	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	427	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	61					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.183T>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	6.483	0.457234	0.12342	.	.	ENSG00000229676	ENST00000456783	T	0.06687	3.27	1.17	-0.252	0.12999	.	.	.	.	.	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B	0.28900	0.227	B	0.31946	0.138	T	0.40997	-0.9533	9	0.54805	T	0.06	.	3.2579	0.06839	0.0:0.2972:0.0:0.7028	.	61	Q9P255	ZN492_HUMAN	K	61	ENSP00000413660:N61K	ENSP00000413660:N61K	N	+	3	2	ZNF492	22638494	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.949000	0.00679	-0.292000	0.08999	0.377000	0.23210	AAT		0.318	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		A	22846654	T	A	22846654	3	1	113	1	0	0	0	0	1	0	0	0	17940	1490	52	5	193	5	ZNF492	19	22846654	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	15314687	22846654	36282329	58	7698											
MAG	4099	broad.mit.edu	37	chr19	35801013	35801013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccgcgtcatctgcaccGcgaggaacctctatggcgcc	6	6	11	18	6	3	0	1	0	2	0	3	2	3	1	5	2	2	1	5	2	2	1	rs202083530		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:35801013G>A	ENST00000392213.3	+	8	1627	c.1468G>A	c.(1468-1470)Gcg>Acg	p.A490T	MAG_ENST00000537831.2_Missense_Mutation_p.A465T|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.A490T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	490	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CATCTGCACCGCGAGGAACCT	0.706																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1468-1470)Gcg>Acg		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							32	33	33					19																	35801013		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35801013G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1468G>A	19.37:g.35801013G>A	ENSP00000376048:p.Ala490Thr					MAG_uc002nyx.2_Missense_Mutation_p.A490T|MAG_uc010eds.2_Missense_Mutation_p.A465T|MAG_uc002nyz.2_Missense_Mutation_p.A490T	p.A490T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1666	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	490			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1468G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669335	0.47677	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.19250	2.16;2.16;2.16	4.68	-2.33	0.06724	.	0.572908	0.18803	N	0.130721	T	0.13670	0.0331	L	0.29908	0.895	0.09310	N	1	P;P;B	0.40515	0.719;0.455;0.269	B;B;B	0.32928	0.138;0.155;0.048	T	0.14980	-1.0453	10	0.87932	D	0	.	16.8227	0.85922	0.0:0.0:0.7871:0.2129	.	527;490;490	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	527;490;490;465	ENSP00000355234:A490T;ENSP00000376048:A490T;ENSP00000440695:A465T	ENSP00000262624:A527T	A	+	1	0	MAG	40492853	0.010000	0.17322	0.763000	0.31416	0.903000	0.53119	0.230000	0.17852	-0.301000	0.08882	-0.521000	0.04368	GCG		0.706	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35801013	G	A	35801013	3	1	113	1	0	0	0	0	1	0	0	0	9162	1087	38	1	1490	1	MAG	19	35801013	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	12954359	35801013	23327970	59	7699											
CYP2B6	1555	broad.mit.edu	37	chr19	41512932	41512932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagatgctgaacttgttcTaccagactttttcactcatc	10	15	6	10	0	3	4	2	2	1	2	4	4	3	4	1	0	3	2	1	0	3	5	rs140578107		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:41512932T>C	ENST00000324071.4	+	4	614	c.607T>C	c.(607-609)Tac>Cac	p.Y203H	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	203					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAACTTGTTCTACCAGACTTT	0.512													t|||	1	0.000199681	0	0	5008	,	,		22776	0.001		0	False		,,,				2504	0					uc002opr.1																			0		p.F202L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Tac>Cac		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						164	146	152					19																	41512932		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512932T>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.607T>C	19.37:g.41512932T>C	ENSP00000324648:p.Tyr203His					CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.Y203H	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		3	614	+			203					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.607T>C	CCDS12570.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	8.721	0.914262	0.17907	.	.	ENSG00000197408	ENST00000324071	T	0.67698	-0.28	4.46	-2.06	0.07298	.	0.468623	0.22540	N	0.058723	T	0.45577	0.1349	N	0.21373	0.66	0.09310	N	1	B	0.10296	0.003	B	0.22753	0.041	T	0.32428	-0.9907	10	0.41790	T	0.15	.	7.0862	0.25259	0.6353:0.0:0.131:0.2337	.	203	P20813	CP2B6_HUMAN	H	203	ENSP00000324648:Y203H	ENSP00000324648:Y203H	Y	+	1	0	CYP2B6	46204772	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.010000	0.13242	-0.068000	0.12953	0.393000	0.25936	TAC		0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		C	41512932	T	C	41512932	3	2	113	1	0	0	0	0	1	0	0	0	4164	1522	53	4	621	4	CYP2B6	19	41512932	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	5711919	41512932	17616051	60	7700											
TULP2	7288	broad.mit.edu	37	chr19	49398651	49398651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcggtgtcgggaggccGcgctcgcccctgccgtctcc	1	7	15	18	7	1	0	0	0	1	0	5	1	2	1	6	3	1	1	6	3	0	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:49398651G>A	ENST00000221399.3	-	5	465	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	107					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGGGAGGCCGCGCTCGCCCC	0.632																																						uc002pkz.2																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(319-321)cgC>cgT		Homo sapiens tubby like protein 2 (TULP2), mRNA.							68	78	74					19																	49398651		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49398651G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.321C>T	19.37:g.49398651G>A							p.R107R	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	4	472	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	107					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.321C>T	CCDS12739.1																																																																																				0.632	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		A	49398651	G	A	49398651	2	1	113	1	0	0	0	0	0	0	0	1	16771	1074	38	1		1	TULP2	19	49398651	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	7885719	49398651	9730332	61	7701											
RPN2	6185	broad.mit.edu	37	chr20	35865068	35865068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcctgggcagtgtgacGtttctggctggcaatcggat	6	11	14	10	2	1	1	0	1	1	0	3	2	2	2	2	4	0	4	2	4	1	1	rs201803454		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:35865068G>A	ENST00000237530.6	+	16	2150	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Silent_p.T581T	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	613					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GCAGTGTGACGTTTCTGGCTG	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		21149	0		0	False		,,,				2504	0					uc002xgp.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1837-1839)acG>acA		Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.							116	96	103					20																	35865068		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35865068G>A	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1839G>A	20.37:g.35865068G>A						RPN2_uc002xgq.3_Silent_p.T581T	p.T613T	NM_002951	NP_002942	P04844	RPN2_HUMAN			15	2143	+		Myeloproliferative disorder(115;0.00878)	613					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.1839G>A	CCDS13291.1																																																																																				0.532	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		A	35865068	G	A	35865068	2	1	113	1	0	0	0	0	0	0	0	1	13608	1132	40	1		1	RPN2	20	35865068	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08		35865068	27160452	62	7702											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	8	7	11	15	4	0	1	0	1	0	0	2	3	1	1	4	1	3	1	4	1	2	2	rs141167641	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0	0	5008	,	,		19301	0		0.001	False		,,,				2504	0.0031					uc002xwo.3																			1	Substitution - Missense(1)	p.A222T(2)|p.A222V(1)	ovary(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(664-666)Gcg>Acg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							57	52	53					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr					TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	p.A222T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51870661	G	A	51870661	3	1	113	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	16005593	51870661	11154859	63	7703											
INPP5J	27124	broad.mit.edu	37	chr22	31524557	31524557	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggaagagccaccgactcCaggtgacgcagcacagctac	12	3	12	14	3	0	2	0	1	0	1	1	5	1	3	3	2	4	3	3	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:31524557C>T	ENST00000331075.5	+	9	2159	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	INPP5J_ENST00000404453.1_Nonsense_Mutation_p.Q69*|INPP5J_ENST00000402238.1_Nonsense_Mutation_p.Q69*|INPP5J_ENST00000401755.1_Nonsense_Mutation_p.Q69*|INPP5J_ENST00000412277.2_Nonsense_Mutation_p.Q637*|INPP5J_ENST00000400294.2_Nonsense_Mutation_p.Q337*|INPP5J_ENST00000405300.1_Nonsense_Mutation_p.Q337*|INPP5J_ENST00000404390.3_Nonsense_Mutation_p.Q336*	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	704	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCACCGACTCCAGGTGACGCA	0.602																																						uc003aju.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(2110-2112)Cag>Tag		Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.							63	73	70					22																	31524557		2115	4217	6332	SO:0001587	stop_gained	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31524557C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2110C>T	22.37:g.31524557C>T	ENSP00000333262:p.Gln704*					INPP5J_uc003ajw.3_Nonsense_Mutation_p.Q140*|INPP5J_uc003ajt.4_Nonsense_Mutation_p.Q336*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.Q337*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.Q337*|INPP5J_uc011alk.2_Nonsense_Mutation_p.Q637*|INPP5J_uc010gwg.3_Nonsense_Mutation_p.Q269*	p.Q704*	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			8	2202	+			704			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Nonsense_Mutation	SNP	ENST00000331075.5	37	c.2110C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.636800	0.98403	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	.	.	.	5.7	4.68	0.58851	.	0.426895	0.25055	N	0.033494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	2.8768	0.05634	0.163:0.5395:0.1574:0.1401	.	.	.	.	X	704;637;337;337;336;69;69;69	.	ENSP00000333262:Q704X	Q	+	1	0	INPP5J	29854557	0.004000	0.15560	1.000000	0.80357	0.993000	0.82548	1.110000	0.31147	1.394000	0.46624	0.655000	0.94253	CAG		0.602	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		T	31524557	C	T	31524557	4	4	113	1	0	0	0	0	0	1	0	0	7759	595	21	3	1040	3	INPP5J	22	31524557	Nonsense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		31524557	19780009	64	7704											
PHF5A	84844	broad.mit.edu	37	chr22	41863525	41863525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccacagatcacacagCgcccctggtaagatccatag	11	7	8	15	1	1	2	1	0	0	2	4	2	4	2	5	1	1	1	5	1	2	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:41863525C>T	ENST00000216252.3	-	3	241	c.170G>A	c.(169-171)cGc>cAc	p.R57H	ACO2_ENST00000396512.3_5'Flank|PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000216254.4_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATCACACAGCGCCCCTGGTA	0.502																																					Ovarian(15;130 571 1826 2981 46141)	uc003bab.3																			0		p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(169-171)cGc>cAc		Homo sapiens PHD finger protein 5A (PHF5A), mRNA.							105	85	92					22																	41863525		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863525C>T	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"Zinc fingers, PHD-type"	18000	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 7"					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.170G>A	22.37:g.41863525C>T	ENSP00000216252:p.Arg57His					ACO2_uc003bac.3_5'Flank	p.R57H	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN			2	221	-			57					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.170G>A	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782489	0.90282	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.84585	2.705	0.80722	D	1	B	0.27229	0.172	B	0.31245	0.126	T	0.75334	-0.3354	9	0.72032	D	0.01	-18.9427	19.8379	0.96666	0.0:1.0:0.0:0.0	.	57	Q7RTV0	PHF5A_HUMAN	H	57	.	ENSP00000216252:R57H	R	-	2	0	PHF5A	40193471	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.568000	0.82369	2.765000	0.95021	0.655000	0.94253	CGC		0.502	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		T	41863525	C	T	41863525	3	4	113	1	0	0	0	0	1	0	0	0	11837	768	27	1	170	1	PHF5A	22	41863525	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	10338968	41863525	9441041	65	7705											
NAGA	4668	broad.mit.edu	37	chr22	42456400	42456400	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccactgatgatgtcaccTgagtagacgtcctgggcctg	8	9	13	11	1	1	4	1	3	0	1	2	4	2	4	4	2	0	1	4	2	1	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:42456400T>G	ENST00000396398.3	-	9	1651	c.1119A>C	c.(1117-1119)tcA>tcC	p.S373S	NAGA_ENST00000403363.1_Silent_p.S373S|NAGA_ENST00000402937.1_Silent_p.S373S	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	373					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGATGTCACCTGAGTAGACGT	0.557																																						uc003bbw.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1117-1119)tcA>tcC		Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.							161	143	149					22																	42456400		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42456400T>G		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1119A>C	22.37:g.42456400T>G							p.S373S	NM_000262	NP_000253	P17050	NAGAB_HUMAN			8	1664	-			373						Silent	SNP	ENST00000396398.3	37	c.1119A>C	CCDS14030.1																																																																																				0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			G	42456400	T	G	42456400	2	3	113	1	0	0	0	0	0	0	0	1	10141	1567	55	5		5	NAGA	22	42456400	Silent	SNP	T	TCGA-12-0618-01A-01D-1492-08	592875	42456400	8848166	66	7706											
PTPRU	10076	broad.mit.edu	37	chr1	29602053	29602053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgggctacaacgtgacgcGttgccacacctatactgtgt	9	10	10	12	3	0	1	0	1	0	0	0	1	0	1	2	1	4	2	2	1	4	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:29602053G>A	ENST00000345512.3	+	8	1367	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	PTPRU_ENST00000323874.8_Missense_Mutation_p.R413H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R413H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R413H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R413H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R413H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	413	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AACGTGACGCGTTGCCACACC	0.592																																						uc001bru.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1237-1239)cGt>cAt		Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.							117	101	106					1																	29602053		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29602053G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1238G>A	1.37:g.29602053G>A	ENSP00000334941:p.Arg413His					PTPRU_uc009vtq.3_Missense_Mutation_p.R413H|PTPRU_uc009vtr.3_Missense_Mutation_p.R413H|PTPRU_uc001brw.3_Missense_Mutation_p.R413H	p.R413H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1367	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	413			Fibronectin type-III 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1238G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545338	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.4	5.4	0.78164	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.993;0.993	T	0.74216	-0.3737	9	.	.	.	.	18.5309	0.90992	0.0:0.0:1.0:0.0	.	413;413;413;413;413	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	413	ENSP00000334941:R413H;ENSP00000362884:R413H;ENSP00000349333:R413H;ENSP00000314987:R413H;ENSP00000392332:R413H;ENSP00000432906:R413H	.	R	+	2	0	PTPRU	29474640	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.734000	0.98822	2.695000	0.91970	0.643000	0.83706	CGT		0.592	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			A	29602053	G	A	29602053	3	1	114	1	0	0	0	0	1	0	0	0	12813	1145	40	1	1268	1	PTPRU	1	29602053	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		29602053	219648568	1	7707											
CYP4B1	1580	broad.mit.edu	37	chr1	47282838	47282838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacctttgtggatggcCggtctctacctgcaggtggg	4	12	14	11	1	2	0	1	0	1	0	3	1	2	1	3	5	2	1	3	5	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:47282838C>T	ENST00000271153.4	+	9	1225	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R235W|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R383W|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R398W			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	397					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGTGGATGGCCGGTCTCTACC	0.567																																						uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1192-1194)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							85	80	82					1																	47282838		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47282838C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1189C>T	1.37:g.47282838C>T	ENSP00000271153:p.Arg397Trp					CYP4B1_uc001cqm.4_Missense_Mutation_p.R397W|CYP4B1_uc009vym.3_Missense_Mutation_p.R383W|CYP4B1_uc010omk.2_Missense_Mutation_p.R234W	p.R398W	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			8	1276	+	Acute lymphoblastic leukemia(166;0.155)		397					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1192C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560418	0.45590	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.68	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.62723	1.935	0.46416	D	0.999034	P;P;P	0.47962	0.844;0.882;0.903	B;P;P	0.50708	0.284;0.516;0.648	T	0.69989	-0.4995	10	0.87932	D	0	.	8.9921	0.36030	0.1674:0.6853:0.0:0.1474	.	383;398;397	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	W	398;397;383;235;234	ENSP00000360991:R398W;ENSP00000271153:R397W;ENSP00000360987:R383W;ENSP00000400413:R235W;ENSP00000437670:R234W	ENSP00000271153:R397W	R	+	1	2	CYP4B1	47055425	0.947000	0.32204	1.000000	0.80357	0.820000	0.46376	1.517000	0.35867	0.776000	0.33473	-0.254000	0.11334	CGG		0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47282838	C	T	47282838	3	4	114	1	0	0	0	0	1	0	0	0	4185	643	23	2	1226	2	CYP4B1	1	47282838	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	17680785	47282838	201967783	2	7708											
LYST	1130	broad.mit.edu	37	chr1	235860518	235860518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggtactggagcacTgggggaacccacgtattccc	10	6	12	13	1	0	0	0	0	0	0	1	3	1	2	3	4	3	3	3	4	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:235860518T>C	ENST00000389794.3	-	46	10603	c.10429A>G	c.(10429-10431)Agt>Ggt	p.S3477G	LYST_ENST00000389793.2_Missense_Mutation_p.S3477G|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3477					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTGGAGCACTGGGGGAACCC	0.473																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10429-10431)Agt>Ggt		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							62	67	66					1																	235860518		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235860518T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10429A>G	1.37:g.235860518T>C	ENSP00000374444:p.Ser3477Gly					LYST_uc001hxi.2_Missense_Mutation_p.S701G	p.S3477G	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10604	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3477					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10429A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.477062	0.63849	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62498	0.02;0.02	5.88	5.88	0.94601	.	0.294404	0.45606	D	0.000358	T	0.66684	0.2814	L	0.48642	1.525	0.80722	D	1	D	0.54772	0.968	P	0.51170	0.661	T	0.70110	-0.4962	10	0.72032	D	0.01	.	16.2762	0.82644	0.0:0.0:0.0:1.0	.	3477	Q99698	LYST_HUMAN	G	3477	ENSP00000374444:S3477G;ENSP00000374443:S3477G	ENSP00000374443:S3477G	S	-	1	0	LYST	233927141	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	6.282000	0.72639	2.243000	0.73865	0.482000	0.46254	AGT		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235860518	T	C	235860518	3	2	114	1	0	0	0	0	1	0	0	0	9128	1580	55	4	1008	4	LYST	1	235860518	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08	188577680	235860518	13390103	3	7709											
RYR2	6262	broad.mit.edu	37	chr1	237890471	237890471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgttgtagcctgcttcCggatggcccccttatataat	6	13	11	11	1	0	0	0	0	0	0	1	1	1	1	4	3	2	4	4	3	4	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:237890471C>T	ENST00000366574.2	+	76	11127	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	RYR2_ENST00000360064.6_Missense_Mutation_p.R3602W|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3588W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3604	Interaction with CALM.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCCTGCTTCCGGATGGCCCC	0.403																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10810-10812)Cgg>Tgg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							88	84	86					1																	237890471		1843	4074	5917	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237890471C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10810C>T	1.37:g.237890471C>T	ENSP00000355533:p.Arg3604Trp					RYR2_uc010pya.2_5'UTR|RYR2_uc021pkz.1_Non-coding_Transcript	p.R3604W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		75	10930	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3604					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10810C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460115	0.63401	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98150	-4.74;-4.75;-4.74	4.98	3.06	0.35304	.	0.000000	0.52532	U	0.000065	D	0.98661	0.9551	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99187	1.0869	10	0.87932	D	0	-11.231	13.6843	0.62506	0.4723:0.5277:0.0:0.0	.	3604	Q92736	RYR2_HUMAN	W	3604;3602;3588;559	ENSP00000355533:R3604W;ENSP00000353174:R3602W;ENSP00000443798:R3588W	ENSP00000353174:R3602W	R	+	1	2	RYR2	235957094	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	0.950000	0.29122	0.592000	0.29728	0.650000	0.86243	CGG		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237890471	C	T	237890471	3	4	114	1	0	0	0	0	1	0	0	0	13769	643	23	2	11112	2	RYR2	1	237890471	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	2029953	237890471	11360150	4	7710											
MCM6	4175	broad.mit.edu	37	chr2	136630288	136630288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatagaactcctcttgaatgGtggtggaaagttgctggtta	10	14	12	5	0	1	2	0	1	1	1	2	3	2	3	1	4	2	3	1	4	6	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:136630288G>C	ENST00000264156.2	-	2	293	c.233C>G	c.(232-234)aCc>aGc	p.T78S		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	78					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTCTTGAATGGTGGTGGAAAG	0.413																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(232-234)aCc>aGc		Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	Atorvastatin(DB01076)						157	149	152					2																	136630288		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630288G>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.233C>G	2.37:g.136630288G>C	ENSP00000264156:p.Thr78Ser						p.T78S	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	1	309	-			78					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.233C>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884818	0.72410	.	.	ENSG00000076003	ENST00000264156	T	0.10860	2.83	5.85	5.85	0.93711	Nucleic acid-binding, OB-fold-like (1);	0.046035	0.85682	D	0.000000	T	0.14056	0.0340	L	0.45581	1.43	0.80722	D	1	B	0.18166	0.026	B	0.19946	0.027	T	0.08066	-1.0740	10	0.25751	T	0.34	-13.5459	20.1731	0.98165	0.0:0.0:1.0:0.0	.	78	Q14566	MCM6_HUMAN	S	78	ENSP00000264156:T78S	ENSP00000264156:T78S	T	-	2	0	MCM6	136346758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.783000	0.99037	2.768000	0.95171	0.655000	0.94253	ACC		0.413	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		C	136630288	G	C	136630288	3	2	114	1	0	0	0	0	1	0	0	0	9391	1261	44	5	2296	5	MCM6	2	136630288	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		136630288	106569085	5	7711											
SCN10A	6336	broad.mit.edu	37	chr3	38755494	38755494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagtggccgcagagcGcgaagggttcgaagggcttt	7	6	17	11	5	0	1	0	0	0	1	1	3	0	1	2	3	1	4	2	3	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38755494G>A	ENST00000449082.2	-	21	3758	c.3759C>T	c.(3757-3759)cgC>cgT	p.R1253R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1253					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCGCAGAGCGCGAAGGGTTC	0.527																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3757-3759)cgC>cgT		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						89	91	90					3																	38755494		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755494G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3759C>T	3.37:g.38755494G>A							p.R1253R	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3759	-			1253					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.3759C>T	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38755494	G	A	38755494	2	1	114	1	0	0	0	0	0	0	0	1	13912	1074	38	1		1	SCN10A	3	38755494	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		38755494	159266936	6	7712											
SCN11A	11280	broad.mit.edu	37	chr3	38913127	38913128	+	Frame_Shift_Ins	INS	-	-	C																															cccagaatacaaaatacgagINSccagaaaatgaggcagacaa																										TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38913127_38913128insC	ENST00000302328.3	-	21	3765_3766	c.3567_3568insG	c.(3565-3570)tggctcfs	p.L1190fs	SCN11A_ENST00000450244.1_Frame_Shift_Ins_p.L1190fs|SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.L1152fs|SCN11A_ENST00000444237.2_Frame_Shift_Ins_p.L1190fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1190					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAATACGAGCCAGAAAATGA	0.361																																						uc021wvy.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3565-3570)tggctcfs		Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	Cocaine(DB00907)																																			SO:0001589	frameshift_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38913127_38913128insC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3568dupG	3.37:g.38913129_38913129dupC	ENSP00000307599:p.Leu1190fs						p.W1189fs	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	20	3766_3767	-			1189					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Ins	INS	ENST00000302328.3	37	c.3567_3568insG	CCDS33737.1																																																																																				0.361	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		C	38913128	-	C	38913127	7	5	114	1	0	1	1	0	0	0	0	0	13913	971	34	0	1831	0	SCN11A	3	38913127	Frame_Shift_Ins	INS	-	TCGA-12-0619-01A-01D-1492-08	157633	38913127	159109303	7	7713											
GNB4	59345	broad.mit.edu	37	chr3	179137188	179137189	+	Splice_Site	INS	-	-	G																															gtaatgacaggtacaaacctINSggaatcgtatccccaatgca																								rs35612039		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:179137188_179137189insG	ENST00000232564.3	-	4	487_488	c.201_202insC	c.(199-204)tccagg>tccCagg	p.R68fs	GNB4_ENST00000468623.1_Splice_Site_p.R68fs	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	68					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GGTACAAACCTGGAATCGTATC	0.361																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.e4+1		Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.																																				SO:0001630	splice_region_variant	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179137188_179137189insG	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"WD repeat domain containing"	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.203+1->C	3.37:g.179137190_179137190dupG						GNB4_uc003fju.4_5'Flank	p.R68_splice	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		4	483	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		68					B3KMH5|D3DNR8	Frame_Shift_Ins	INS	ENST00000232564.3	37	c.203_splice	CCDS3230.1																																																																																				0.361	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629	Frame_Shift_Ins	G	179137189	-	G	179137188	8	5	114	1	0	1	1	0	0	0	1	0	6520	1594	55	0	848	0	GNB4	3	179137188	Splice_Site	INS	-	TCGA-12-0619-01A-01D-1492-08	140224061	179137188	18885242	8	7714											
ETV5	2119	broad.mit.edu	37	chr3	185823619	185823619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacataaacttacccctggGaccataaaagggacttgctg	13	8	8	12	0	0	0	0	0	0	0	0	2	0	2	4	2	3	1	4	2	5	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:185823619G>A	ENST00000306376.5	-	2	285	c.39C>T	c.(37-39)gtC>gtT	p.V13V	ETV5_ENST00000537818.1_Silent_p.V55V|DGKG_ENST00000447054.1_5'UTR|ETV5_ENST00000434744.1_Silent_p.V13V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	13					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TTACCCCTGGGACCATAAAAG	0.453			T	"TMPRSS2, SCL45A3"	Prostate																																	uc003fpy.3				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(163-165)gtC>gtT		Homo sapiens ets variant 5 (ETV5), mRNA.							90	87	88					3																	185823619		2203	4300	6503	SO:0001819	synonymous_variant	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185823619G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.39C>T	3.37:g.185823619G>A						ETV5_uc003fpz.3_Silent_p.V13V	p.V55V	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		1	230	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		13					A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	c.165C>T	CCDS33906.1																																																																																				0.453	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185823619	G	A	185823619	2	1	114	1	0	0	0	0	0	0	0	1	5282	1161	41	3		3	ETV5	3	185823619	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	6686431	185823619	12198811	9	7715											
TACC3	10460	broad.mit.edu	37	chr4	1725208	1725208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaatacagaaaattgCgacttcctgttttcgccacc	15	10	6	10	2	0	1	0	0	0	1	2	3	1	1	3	0	2	1	3	0	6	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:1725208C>T	ENST00000313288.4	+	2	166	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TMEM129_ENST00000536901.1_5'Flank|TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	20					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGAAAATTGCGACTTCCTGT	0.433																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(58-60)tgC>tgT		Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.							60	59	59					4																	1725208		2202	4299	6501	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1725208C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.60C>T	4.37:g.1725208C>T						TMEM129_uc003gdn.3_5'Flank|TMEM129_uc003gdm.3_5'Flank|TACC3_uc010ibz.3_Silent_p.C20C|TACC3_uc003gdp.3_Silent_p.C20C	p.C20C	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		1	215	+		Breast(71;0.212)|all_epithelial(65;0.241)	20					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.60C>T	CCDS3352.1																																																																																				0.433	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1725208	C	T	1725208	2	4	114	1	0	0	0	0	0	0	0	1	15500	776	27	1		1	TACC3	4	1725208	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08		1725208	189429068	10	7716											
TBC1D9	23158	broad.mit.edu	37	chr4	141580777	141580777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtaatctgggagcatgCgctcacacaaagccacaagc	13	7	10	11	1	2	0	1	0	1	0	2	1	2	1	1	1	4	4	1	1	4	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:141580777C>T	ENST00000442267.2	-	11	1960	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	629	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGGAGCATGCGCTCACACAA	0.448																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1885-1887)cGc>cAc		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							59	62	61					4																	141580777		2082	4225	6307	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141580777C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1886G>A	4.37:g.141580777C>T	ENSP00000411197:p.Arg629His						p.R629H	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			10	2158	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	629			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1886G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553653	0.96501	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	M	0.69248	2.105	0.80722	D	1	P	0.50943	0.94	P	0.51193	0.662	T	0.00398	-1.1764	10	0.72032	D	0.01	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	629	Q6ZT07	TBCD9_HUMAN	H	629	ENSP00000411197:R629H	ENSP00000411197:R629H	R	-	2	0	TBC1D9	141800227	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	CGC		0.448	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		T	141580777	C	T	141580777	3	4	114	1	0	0	0	0	1	0	0	0	15624	768	27	1	1958	1	TBC1D9	4	141580777	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	139855569	141580777	49573499	11	7717											
GRIA2	2891	broad.mit.edu	37	chr4	158284178	158284178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttacaacgtatatggcatCgaaagtgttaaaatttaggg	14	12	11	4	2	0	0	0	0	0	0	1	1	0	0	0	3	2	4	0	3	8	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:158284178C>T	ENST00000264426.9	+	15	2913	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	GRIA2_ENST00000296526.7_Silent_p.I878I|GRIA2_ENST00000507898.1_Silent_p.I831I|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Silent_p.I831I|GRIA2_ENST00000449365.1_Silent_p.I831I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	878					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.I878I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATATGGCATCGAAAGTGTTA	0.378																																						uc003ipm.4																			1	Substitution - coding silent(1)	p.I878I(2)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2632-2634)atC>atT		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						126	122	123					4																	158284178		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284178C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2634C>T	4.37:g.158284178C>T						GRIA2_uc011cit.2_Silent_p.I831I|GRIA2_uc003ipl.4_Silent_p.I878I|GRIA2_uc003ipk.4_Silent_p.I831I|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	p.I878I	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	14	3093	+	all_hematologic(180;0.24)	Renal(120;0.0458)	878					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.2634C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	3.666	-0.068507	0.07228	.	.	ENSG00000120251	ENST00000510854	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	.	R	+	1	2	GRIA2	158503628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	CGA		0.378	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			T	158284178	C	T	158284178	2	4	114	1	0	0	0	0	0	0	0	1	6768	874	31	2		2	GRIA2	4	158284178	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	16703401	158284178	32870098	12	7718											
DNAH5	1767	broad.mit.edu	37	chr5	13753418	13753418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaattaacaaagggtaaCgagatgccttcgtgacaata	16	9	9	7	2	1	2	1	1	0	1	2	4	1	2	1	1	3	1	1	1	6	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:13753418C>G	ENST00000265104.4	-	63	10900	c.10796G>C	c.(10795-10797)cGt>cCt	p.R3599P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3599	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGGGTAACGAGATGCCTT	0.368									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10795-10797)cGt>cCt		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							115	104	108					5																	13753418		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753418C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10796G>C	5.37:g.13753418C>G	ENSP00000265104:p.Arg3599Pro					DNAH5_uc003jfc.2_5'UTR	p.R3599P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			62	10838	-	Lung NSC(4;0.00476)		3599			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10796G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144447	0.94603	.	.	ENSG00000039139	ENST00000265104	T	0.68479	-0.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94460	0.7675	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	3599	Q8TE73	DYH5_HUMAN	P	3599	ENSP00000265104:R3599P	ENSP00000265104:R3599P	R	-	2	0	DNAH5	13806418	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.880000	0.98712	0.650000	0.86243	CGT		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		G	13753418	C	G	13753418	3	3	114	1	0	0	0	0	1	0	0	0	4604	536	19	5	3146	5	DNAH5	5	13753418	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		13753418	167161842	13	7719											
RNASEN	29102	broad.mit.edu	37	chr5	31468080	31468080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataactcaactgtgcagggcGtatcccaaagtggacgataa	14	8	10	9	2	1	0	1	0	0	0	2	2	2	1	1	2	3	2	1	2	5	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:31468080G>A	ENST00000511367.2	-	17	2576	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	DROSHA_ENST00000513349.1_Missense_Mutation_p.R741C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R778C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R741C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	778	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGTGCAGGGCGTATCCCAAAG	0.438																																						uc003jhg.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2332-2334)Cgc>Tgc		Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.							71	70	70					5																	31468080		1913	4119	6032	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31468080G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2332C>T	5.37:g.31468080G>A	ENSP00000425979:p.Arg778Cys					DROSHA_uc003jhh.2_Missense_Mutation_p.R741C|DROSHA_uc003jhi.2_Missense_Mutation_p.R741C	p.R778C	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			16	2691	-			778			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2332C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587781	0.66105	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.56776	1.06;1.06;0.44;0.44	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.80183	2.485	0.80722	D	1	D;D	0.64830	0.994;0.971	P;B	0.48598	0.583;0.363	T	0.68085	-0.5502	10	0.59425	D	0.04	-15.0091	12.584	0.56406	0.0:0.0:0.7094:0.2906	.	741;778	E7EMP9;Q9NRR4	.;RNC_HUMAN	C	778;778;741;741;703;734	ENSP00000425979:R778C;ENSP00000339845:R778C;ENSP00000409335:R741C;ENSP00000424161:R741C	ENSP00000265075:R703C	R	-	1	0	DROSHA	31503837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.542000	0.60677	2.444000	0.82710	0.655000	0.94253	CGC		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31468080	G	A	31468080	3	1	114	1	0	0	0	0	1	0	0	0	13417	1145	40	1	1868	1	RNASEN	5	31468080	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	17714662	31468080	149447180	14	7720											
MAP3K1	4214	broad.mit.edu	37	chr5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgcagcagatagggcCtaactctttcctgattggag	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	3	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:56160697C>T	ENST00000399503.3	+	4	971	c.971C>T	c.(970-972)cCt>cTt	p.P324L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	324					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(970-972)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							110	109	109					5																	56160697		1888	4111	5999	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160697C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.971C>T	5.37:g.56160697C>T	ENSP00000382423:p.Pro324Leu						p.P324L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	1472	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	324						Missense_Mutation	SNP	ENST00000399503.3	37	c.971C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922032	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.72167	-0.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86368	0.1721	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	324	Q13233	M3K1_HUMAN	L	324	ENSP00000382423:P324L	ENSP00000382423:P324L	P	+	2	0	MAP3K1	56196454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.764000	0.74960	2.737000	0.93849	0.563000	0.77884	CCT		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56160697	C	T	56160697	3	4	114	1	0	0	0	0	1	0	0	0	9243	681	24	3	985	3	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	24692617	56160697	124754563	15	7721											
GRAMD3	65983	broad.mit.edu	37	chr5	125821443	125821443	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtccgatgcttcaccatAttcttatattctatgcaatt	11	17	4	9	1	3	0	1	0	2	0	4	1	4	0	2	0	2	2	2	0	6	8			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:125821443A>T	ENST00000285689.3	+	11	1497	c.1036A>T	c.(1036-1038)Att>Ttt	p.I346F	GRAMD3_ENST00000542322.1_Missense_Mutation_p.I354F|GRAMD3_ENST00000511134.1_Missense_Mutation_p.I330F|GRAMD3_ENST00000502348.1_Missense_Mutation_p.I237F|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Missense_Mutation_p.I242F|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000513040.1_Missense_Mutation_p.I361F|GRAMD3_ENST00000543198.1_Missense_Mutation_p.I324F|GRAMD3_ENST00000515200.1_Missense_Mutation_p.I324F	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	346						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GCTTCACCATATTCTTATATT	0.348																																						uc011cwt.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1081-1083)Att>Ttt		Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.							121	110	114					5																	125821443		2203	4300	6503	SO:0001583	missense	65983							g.chr5:125821443A>T	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1036A>T	5.37:g.125821443A>T	ENSP00000285689:p.Ile346Phe					GRAMD3_uc003ktu.3_Missense_Mutation_p.I346F|GRAMD3_uc011cwv.2_Missense_Mutation_p.I354F|GRAMD3_uc011cww.2_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.2_Missense_Mutation_p.I330F	p.I361F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	10	1317	+		Prostate(80;0.0928)	346					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	c.1081A>T	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964795	0.53507	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T;T	0.38560	1.13;1.15;1.19;1.15;1.24;1.22;1.25;1.19	5.94	3.53	0.40419	.	0.227191	0.45126	D	0.000396	T	0.55401	0.1918	M	0.65975	2.015	0.44136	D	0.996929	D;P;D;D;D	0.69078	0.996;0.948;0.995;0.997;0.996	P;P;P;D;P	0.63703	0.764;0.572;0.798;0.917;0.764	T	0.54330	-0.8310	10	0.72032	D	0.01	.	7.5781	0.27948	0.7867:0.1415:0.0719:0.0	.	330;242;354;361;346	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	F	361;346;324;354;242;324;237;330	ENSP00000426120:I361F;ENSP00000285689:I346F;ENSP00000426143:I324F;ENSP00000441876:I354F;ENSP00000444049:I242F;ENSP00000442902:I324F;ENSP00000427596:I237F;ENSP00000426088:I330F	ENSP00000285689:I346F	I	+	1	0	GRAMD3	125849342	0.662000	0.27439	0.997000	0.53966	0.256000	0.26092	0.989000	0.29629	0.487000	0.27698	-0.379000	0.06801	ATT		0.348	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927		T	125821443	A	T	125821443	3	4	114	1	0	0	0	0	1	0	0	0	6751	449	16	5	1292	5	GRAMD3	5	125821443	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	69660746	125821443	55093817	16	7722											
PCDHA10	56139	broad.mit.edu	37	chr5	140236992	140236992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgacaacgcgcctgcGttcgcgcagtccgagtacac	9	6	12	14	7	0	1	0	1	0	0	2	3	1	1	2	0	4	3	2	0	3	2	rs372428918		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140236992G>A	ENST00000307360.5	+	1	1359	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A453A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A453A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGT	0.677																																						uc003lhx.2																			2	Substitution - coding silent(2)	p.A453A(2)	ovary(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1357-1359)gcG>gcA		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							101	94	97					5																	140236992		2196	4274	6470	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140236992G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1359G>A	5.37:g.140236992G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A453A|PCDHAC2_uc011dad.2_Silent_p.A453A	p.A453A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1359	+			468			Cadherin 4.		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1359G>A	CCDS54921.1																																																																																				0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		A	140236992	G	A	140236992	2	1	114	1	0	0	0	0	0	0	0	1	11520	1132	40	1		1	PCDHA10	5	140236992	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	14415549	140236992	40678268	17	7723											
PCDHB2	56133	broad.mit.edu	37	chr5	140475875	140475875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccccaggacccgcacctgCccctcgcctccctggtctcc	3	6	8	24	3	1	0	0	0	1	0	4	1	2	1	9	2	1	1	9	2	0	0			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140475875C>A	ENST00000194155.4	+	1	1649	c.1501C>A	c.(1501-1503)Ccc>Acc	p.P501T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCACCTGCCCCTCGCCTC	0.692																																						uc003lil.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1501-1503)Ccc>Acc		Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.							61	66	65					5																	140475875		2202	4294	6496	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475875C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1501C>A	5.37:g.140475875C>A	ENSP00000194155:p.Pro501Thr					PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	p.P501T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1639	+			501			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1501C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970423	0.18659	.	.	ENSG00000112852	ENST00000194155	T	0.01629	4.72	4.38	1.37	0.22104	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02533	0.0077	L	0.45581	1.43	0.09310	N	1	B	0.32040	0.353	B	0.30572	0.117	T	0.37407	-0.9707	9	0.66056	D	0.02	.	12.5987	0.56485	0.0:0.2208:0.6962:0.083	.	501	Q9Y5E7	PCDB2_HUMAN	T	501	ENSP00000194155:P501T	ENSP00000194155:P501T	P	+	1	0	PCDHB2	140456059	0.000000	0.05858	0.002000	0.10522	0.879000	0.50718	-0.580000	0.05827	0.015000	0.14971	0.556000	0.70494	CCC		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		A	140475875	C	A	140475875	3	1	114	1	0	0	0	0	1	0	0	0	11542	739	26	5	1503	5	PCDHB2	5	140475875	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	238883	140475875	40439385	18	7724											
GPR116	221395	broad.mit.edu	37	chr6	46856078	46856078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcttactcacctgttgTcacatttatgctcaaaatgt	9	16	6	10	0	4	0	3	0	1	0	5	0	4	0	1	1	2	2	1	1	4	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:46856078T>C	ENST00000283296.7	-	4	610	c.322A>G	c.(322-324)Aca>Gca	p.T108A	GPR116_ENST00000362015.4_Missense_Mutation_p.T108A|GPR116_ENST00000456426.2_Missense_Mutation_p.T108A|GPR116_ENST00000478711.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.T108A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	108					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCACCTGTTGTCACATTTATG	0.403																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(322-324)Aca>Gca		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							122	115	117					6																	46856078		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46856078T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.322A>G	6.37:g.46856078T>C	ENSP00000283296:p.Thr108Ala					GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	p.T108A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		3	611	-			108					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.322A>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743348	0.69418	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.55052	0.66;1.04;0.54;0.66	5.66	4.49	0.54785	.	0.094954	0.46145	D	0.000310	T	0.47820	0.1466	M	0.71581	2.175	0.80722	D	1	P;P;P	0.51351	0.908;0.944;0.908	P;P;P	0.50617	0.577;0.646;0.577	T	0.55471	-0.8136	10	0.72032	D	0.01	-18.9062	9.2308	0.37437	0.1611:0.0:0.0:0.8389	.	108;108;108	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	A	108	ENSP00000283296:T108A;ENSP00000354563:T108A;ENSP00000412866:T108A;ENSP00000265417:T108A	ENSP00000265417:T108A	T	-	1	0	GPR116	46964037	0.995000	0.38212	0.999000	0.59377	0.867000	0.49689	2.347000	0.44036	1.061000	0.40601	0.533000	0.62120	ACA		0.403	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		C	46856078	T	C	46856078	3	2	114	1	0	0	0	0	1	0	0	0	6633	1667	58	4	3790	4	GPR116	6	46856078	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08		46856078	124258989	19	7725											
HTR1E	3354	broad.mit.edu	37	chr6	87725312	87725312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctacattgtcatggatcGctggaagcttgggtacttcc	8	13	10	10	1	2	0	1	0	1	0	4	2	3	2	1	3	3	3	1	3	3	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:87725312G>A	ENST00000305344.5	+	2	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R87H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTCATGGATCGCTGGAAGCTT	0.572																																						uc003pli.3																			1	Substitution - Missense(1)	p.R87H(2)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(259-261)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	Eletriptan(DB00216)						157	134	142					6																	87725312		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725312G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.260G>A	6.37:g.87725312G>A	ENSP00000307766:p.Arg87His					HTR1E_uc021zcg.1_Missense_Mutation_p.R87H	p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	1	963	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	87					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.260G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	8.840	0.942067	0.18281	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72282	-0.64;-0.64	4.57	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.592901	0.15652	U	0.251351	T	0.40423	0.1116	N	0.16307	0.4	0.09310	N	1	P	0.35780	0.52	B	0.43623	0.425	T	0.18524	-1.0334	10	0.25751	T	0.34	.	8.5907	0.33686	0.0943:0.3733:0.5324:0.0	.	87	P28566	5HT1E_HUMAN	H	87	ENSP00000307766:R87H;ENSP00000358597:R87H	ENSP00000307766:R87H	R	+	2	0	HTR1E	87782031	0.034000	0.19679	0.995000	0.50966	0.536000	0.34869	0.100000	0.15231	2.085000	0.62840	0.404000	0.27445	CGC		0.572	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		A	87725312	G	A	87725312	3	1	114	1	0	0	0	0	1	0	0	0	7439	1087	38	1	262	1	HTR1E	6	87725312	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	40869234	87725312	83389755	20	7726											
SDK1	221935	broad.mit.edu	37	chr7	4169639	4169639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcctgcgcaagttcGtgctctacgagctccaggtg	6	9	14	12	3	1	0	0	0	1	0	3	1	2	0	2	3	4	5	2	3	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:4169639G>A	ENST00000404826.2	+	27	4178	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1347M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1347	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1347M(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCAAGTTCGTGCTCTACGA	0.657																																						uc003smx.3																			1	Substitution - Missense(1)	p.V1347M(2)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4039-4041)Gtg>Atg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							55	52	53					7																	4169639		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4169639G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4039G>A	7.37:g.4169639G>A	ENSP00000385899:p.Val1347Met					SDK1_uc010kso.3_Missense_Mutation_p.V623M|SDK1_uc003smy.3_5'UTR	p.V1347M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	26	4178	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1347			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4039G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617835	0.87359	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56941	0.43;0.43	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.172787	0.39687	N	0.001286	T	0.66187	0.2764	L	0.39147	1.195	0.40805	D	0.983372	D;D	0.89917	0.973;1.0	P;D	0.67548	0.476;0.952	T	0.67546	-0.5643	10	0.66056	D	0.02	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	1347;1347	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1347	ENSP00000385899:V1347M;ENSP00000374182:V1347M	ENSP00000374182:V1347M	V	+	1	0	SDK1	4136165	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.197000	0.77814	2.722000	0.93159	0.655000	0.94253	GTG		0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4169639	G	A	4169639	3	1	114	1	0	0	0	0	1	0	0	0	13968	1145	40	1	4145	1	SDK1	7	4169639	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		4169639	154969024	21	7727											
SKAP2	8935	broad.mit.edu	37	chr7	26778465	26778465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttactgagagcacaccaccGtttctgccattcaaatccca	11	11	5	14	1	2	1	1	1	1	1	3	2	3	1	4	0	3	2	4	0	2	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:26778465G>A	ENST00000345317.2	-	6	731	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	140	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCACACCACCGTTTCTGCCAT	0.328																																						uc003syc.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(418-420)Cgg>Tgg		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							108	108	108					7																	26778465		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26778465G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.418C>T	7.37:g.26778465G>A	ENSP00000005587:p.Arg140Trp					SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R125W	p.R140W	NM_003930	NP_003921	O75563	SKAP2_HUMAN			5	711	-			140			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.418C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247153	0.80024	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.26373	1.74;1.74	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78091	-0.2339	10	0.87932	D	0	-3.5822	16.7512	0.85487	0.0:0.0:1.0:0.0	.	125;140	B7Z5N4;O75563	.;SKAP2_HUMAN	W	140;125;125	ENSP00000005587:R140W;ENSP00000408163:R125W	ENSP00000005587:R140W	R	-	1	2	SKAP2	26744990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.129000	0.57957	2.696000	0.92011	0.561000	0.74099	CGG		0.328	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			A	26778465	G	A	26778465	3	1	114	1	0	0	0	0	1	0	0	0	14356	1144	40	1	689	1	SKAP2	7	26778465	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	22608826	26778465	132360198	22	7728											
ZPBP	11055	broad.mit.edu	37	chr7	50097662	50097662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgaggaaacatgtataaAttccactcatactctcctca	14	12	4	11	1	3	0	2	0	1	0	6	2	4	1	2	1	2	1	2	1	5	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:50097662A>G	ENST00000046087.2	-	4	479	c.410T>C	c.(409-411)aTt>aCt	p.I137T	ZPBP_ENST00000419417.1_Missense_Mutation_p.I136T|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	137					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ACATGTATAAATTCCACTCAT	0.333																																						uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(409-411)aTt>aCt		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.							109	110	109					7																	50097662		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097662A>G	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.410T>C	7.37:g.50097662A>G	ENSP00000046087:p.Ile137Thr					ZPBP_uc010kyw.3_Missense_Mutation_p.I136T	p.I137T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	480	-	Glioma(55;0.08)|all_neural(89;0.245)		137					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.410T>C	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322187	0.41096	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.76060	-0.99;-0.99	5.66	5.66	0.87406	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216830	0.32041	N	0.006667	T	0.53498	0.1800	N	0.08118	0	0.25526	N	0.987324	B;B	0.26775	0.159;0.159	B;B	0.22386	0.039;0.039	T	0.40701	-0.9549	9	.	.	.	-10.9365	13.4081	0.60926	1.0:0.0:0.0:0.0	.	136;137	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	T	137;136	ENSP00000046087:I137T;ENSP00000402071:I136T	.	I	-	2	0	ZPBP	50068208	0.973000	0.33851	0.870000	0.34147	0.967000	0.64934	3.380000	0.52448	2.140000	0.66376	0.482000	0.46254	ATT		0.333	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		G	50097662	A	G	50097662	3	3	114	1	0	0	0	0	1	0	0	0	18216	101	4	4	665	4	ZPBP	7	50097662	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	23319197	50097662	109041001	23	7729											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	114	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	5135381	55233043	103905620	24	7730											
PTPN12	5782	broad.mit.edu	37	chr7	77256938	77256938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactaggaaagtattgccaAtgtccattgctagacataat	14	12	7	8	0	0	1	0	0	0	1	1	2	1	2	2	1	3	2	2	1	7	7			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:77256938A>G	ENST00000248594.6	+	13	2214	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	PTPN12_ENST00000435495.2_Missense_Mutation_p.M518V|PTPN12_ENST00000415482.2_Missense_Mutation_p.M529V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	648					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGTATTGCCAATGTCCATTGC	0.373																																						uc003ugh.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1942-1944)Atg>Gtg		Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.							61	60	61					7																	77256938		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256938A>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1942A>G	7.37:g.77256938A>G	ENSP00000248594:p.Met648Val					PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	p.M648V	NM_002835	NP_002826	Q05209	PTN12_HUMAN			12	2033	+			648					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1942A>G	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563138	0.45694	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	T;T;T;T	0.37752	3.7;3.1;3.1;1.18	5.8	2.11	0.27256	.	0.076807	0.85682	N	0.000000	T	0.46946	0.1419	L	0.52364	1.645	0.44142	D	0.996938	D	0.58268	0.982	D	0.67548	0.952	T	0.17561	-1.0365	10	0.30854	T	0.27	.	9.6407	0.39837	0.8017:0.0:0.1983:0.0	.	648	Q05209	PTN12_HUMAN	V	648;529;529;518;156	ENSP00000248594:M648V;ENSP00000392429:M529V;ENSP00000397991:M518V;ENSP00000385079:M156V	ENSP00000248594:M648V	M	+	1	0	PTPN12	77094874	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.143000	0.58051	0.125000	0.18397	0.460000	0.39030	ATG		0.373	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			G	77256938	A	G	77256938	3	3	114	1	0	0	0	0	1	0	0	0	12781	101	4	4	1992	4	PTPN12	7	77256938	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	22023895	77256938	81881725	25	7731											
PAX4	5078	broad.mit.edu	37	chr7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcagcacaaagctggCgttggatttcccaggcaaag	10	8	11	12	1	1	0	1	0	0	0	2	1	2	1	2	3	2	4	2	3	2	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:127254980C>T	ENST00000341640.2	-	2	495	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_ENST00000378740.2_Missense_Mutation_p.R97H|PAX4_ENST00000338516.3_Missense_Mutation_p.R105H|PAX4_ENST00000463946.1_Missense_Mutation_p.R95H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	105	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(289-291)cGc>cAc		Homo sapiens paired box 4 (PAX4), mRNA.							54	50	52					7																	127254980		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127254980C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.290G>A	7.37:g.127254980C>T	ENSP00000339906:p.Arg97His					PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.3_Missense_Mutation_p.R95H	p.R97H	NM_006193	NP_006184	O43316	PAX4_HUMAN			1	496	-			105			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.290G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836809	0.50951	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99329	-5.75;-5.75;-5.75	5.63	0.0348	0.14185	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.384594	0.30547	N	0.009381	D	0.95338	0.8487	N	0.08118	0	0.29610	N	0.847015	B;B;B;B	0.26258	0.023;0.029;0.005;0.145	B;B;B;B	0.19666	0.008;0.011;0.014;0.026	D	0.92639	0.6123	10	0.66056	D	0.02	.	9.4674	0.38822	0.0:0.5071:0.0:0.4929	.	97;95;105;95	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	H	97;105;105;95	ENSP00000339906:R97H;ENSP00000344297:R105H;ENSP00000451923:R95H	ENSP00000344297:R105H	R	-	2	0	PAX4	127042216	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	0.288000	0.18939	0.051000	0.15978	-0.140000	0.14226	CGC		0.592	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			T	127254980	C	T	127254980	3	4	114	1	0	0	0	0	1	0	0	0	11481	768	27	1	773	1	PAX4	7	127254980	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	49998042	127254980	31883683	26	7732											
PLXNA4	91584	broad.mit.edu	37	chr7	131872333	131872333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccctccggacatgggccCccggctgggcttcagatctg	4	8	14	15	2	2	1	1	0	1	1	4	2	4	2	4	5	0	2	4	5	0	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:131872333C>T	ENST00000359827.3	-	15	3852	c.2890G>A	c.(2890-2892)Ggg>Agg	p.G964R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G964R			Q9HCM2	PLXA4_HUMAN	plexin A4	964	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACATGGGCCCCCGGCTGGGC	0.587																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2890-2892)Ggg>Agg		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							158	169	165					7																	131872333		2054	4212	6266	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872333C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2890G>A	7.37:g.131872333C>T	ENSP00000352882:p.Gly964Arg						p.G964R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			14	3119	-			964			IPT/TIG 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2890G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225085	0.95173	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.68903	-0.36;-0.36	5.5	5.5	0.81552	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.099468	0.64402	D	0.000001	D	0.87200	0.6118	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90142	0.4214	10	0.87932	D	0	.	19.4564	0.94892	0.0:1.0:0.0:0.0	.	964	Q9HCM2	PLXA4_HUMAN	R	964	ENSP00000323194:G964R;ENSP00000352882:G964R	ENSP00000323194:G964R	G	-	1	0	PLXNA4	131522873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.611000	0.88343	0.549000	0.68633	GGG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131872333	C	T	131872333	3	4	114	1	0	0	0	0	1	0	0	0	12122	623	22	3	2866	3	PLXNA4	7	131872333	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	4617353	131872333	27266330	27	7733											
DENND2A	27147	broad.mit.edu	37	chr7	140301257	140301257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagtcttctgttcacagagGaaggtgggggagaggagggc	10	7	18	6	0	3	2	1	0	2	2	3	5	3	4	0	6	0	1	0	6	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:140301257G>A	ENST00000275884.6	-	2	1358	c.941C>T	c.(940-942)tCc>tTc	p.S314F	DENND2A_ENST00000492720.1_Missense_Mutation_p.S314F|DENND2A_ENST00000496613.1_Missense_Mutation_p.S314F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S314F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	314					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTCACagaggaaggtggggg	0.587																																						uc010lnk.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(940-942)tCc>tTc		Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.							47	50	49					7																	140301257		1968	4162	6130	SO:0001583	missense	27147							g.chr7:140301257G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.941C>T	7.37:g.140301257G>A	ENSP00000275884:p.Ser314Phe					DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S314F|DENND2A_uc003vvw.3_Missense_Mutation_p.S314F|DENND2A_uc003vvx.3_Missense_Mutation_p.S314F	p.S314F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			2	1461	-	Melanoma(164;0.00956)		314					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.941C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114422	0.56505	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11169	3.52;3.52;3.52;2.8	4.85	4.85	0.62838	.	1.318910	0.04505	N	0.381863	T	0.25419	0.0618	L	0.54323	1.7	0.29752	N	0.83626	P;P	0.46220	0.874;0.74	P;B	0.48141	0.568;0.212	T	0.46303	-0.9201	10	0.66056	D	0.02	0.017	18.1513	0.89675	0.0:0.0:1.0:0.0	.	314;314	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	F	314	ENSP00000275884:S314F;ENSP00000442245:S314F;ENSP00000419654:S314F;ENSP00000419464:S314F	ENSP00000275884:S314F	S	-	2	0	DENND2A	139947726	0.992000	0.36948	0.042000	0.18584	0.784000	0.44337	4.364000	0.59479	2.519000	0.84933	0.462000	0.41574	TCC		0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		A	140301257	G	A	140301257	3	1	114	1	0	0	0	0	1	0	0	0	4429	1174	41	3	2160	3	DENND2A	7	140301257	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	8428924	140301257	18837406	28	7734											
ODF2	4957	broad.mit.edu	37	chr9	131233667	131233667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaggaggtggcccaCgaactggctgagactgagca	10	5	17	9	1	0	2	0	2	0	1	0	7	0	4	1	5	3	3	1	5	1	0			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:131233667C>T	ENST00000434106.3	+	6	864	c.501C>T	c.(499-501)caC>caT	p.H167H	ODF2_ENST00000393527.3_Silent_p.H143H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000604420.1_Silent_p.H167H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Silent_p.H162H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000351030.3_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Silent_p.H211H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577																																						uc004bvc.3																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(691-693)caC>caT		Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.							179	157	164					9																	131233667		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131233667C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.501C>T	9.37:g.131233667C>T						ODF2_uc011maz.2_Silent_p.H167H|ODF2_uc011mba.2_Intron|ODF2_uc010myb.3_Silent_p.H143H|ODF2_uc011mbc.2_Silent_p.H86H|ODF2_uc022boj.1_Silent_p.H192H|ODF2_uc004bva.3_Silent_p.H211H|ODF2_uc004bvb.3_Silent_p.H143H|ODF2_uc011mbd.2_Silent_p.H167H|ODF2_uc011mbe.2_Silent_p.H162H|ODF2_uc010myc.3_Silent_p.H110H|ODF2_uc011mbf.2_Silent_p.H148H|ODF2_uc004bvd.4_Silent_p.H167H|ODF2_uc004bve.3_Silent_p.H148H	p.H231H	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN			5	779	+			167					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.693C>T	CCDS56588.1																																																																																				0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			T	131233667	C	T	131233667	2	4	114	1	0	0	0	0	0	0	0	1	10827	535	19	1		1	ODF2	9	131233667	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08		131233667	9979764	29	7735											
PRDM12	59335	broad.mit.edu	37	chr9	133540113	133540113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcgccgggactggcgctgGccgaggttatcacctccgac	6	6	15	14	5	1	0	1	0	0	0	2	3	2	1	4	5	0	2	4	5	1	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540113G>A	ENST00000253008.2	+	1	133	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	25					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACTGGCGCTGGCCGAGGTTAT	0.706																																						uc004bzt.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(73-75)Gcc>Acc		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							16	15	16					9																	133540113		2157	4200	6357	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540113G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.73G>A	9.37:g.133540113G>A	ENSP00000253008:p.Ala25Thr						p.A25T	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	0	133	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	25					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.73G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679077	0.47886	.	.	ENSG00000130711	ENST00000253008	T	0.10005	2.92	4.48	3.57	0.40892	.	0.315391	0.34223	N	0.004156	T	0.07413	0.0187	N	0.19112	0.55	0.34817	D	0.738315	B	0.12013	0.005	B	0.06405	0.002	T	0.10613	-1.0622	10	0.52906	T	0.07	-12.2669	10.5876	0.45292	0.0966:0.0:0.9034:0.0	.	25	Q9H4Q4	PRD12_HUMAN	T	25	ENSP00000253008:A25T	ENSP00000253008:A25T	A	+	1	0	PRDM12	132529934	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.345000	0.72995	2.026000	0.59711	0.462000	0.41574	GCC		0.706	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		A	133540113	G	A	133540113	3	1	114	1	0	0	0	0	1	0	0	0	12453	1203	42	3	75	3	PRDM12	9	133540113	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	2306446	133540113	7673318	30	7736			1	27		2	2	12	N	G_C	2.416246e-05
PRDM12	59335	broad.mit.edu	37	chr9	133540124	133540124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcgctggccgaggttatCacctccgacatcctgcacag	7	8	11	15	3	1	0	1	0	0	0	3	2	3	0	4	3	1	3	4	3	1	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540124C>T	ENST00000253008.2	+	1	144	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	28					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CCGAGGTTATCACCTCCGACA	0.687																																						uc004bzt.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(82-84)atC>atT		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							17	16	16					9																	133540124		2161	4215	6376	SO:0001819	synonymous_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540124C>T	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.84C>T	9.37:g.133540124C>T							p.I28I	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	0	144	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	28					A3KFK9	Silent	SNP	ENST00000253008.2	37	c.84C>T	CCDS6934.1																																																																																				0.687	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		T	133540124	C	T	133540124	2	4	114	1	0	0	0	0	0	0	0	1	12453	816	29	3		3	PRDM12	9	133540124	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	11	133540124	7673307	31	7737			1	27		2	2	12	N	G_C	2.416246e-05
KIAA0649	9858	broad.mit.edu	37	chr9	138379880	138379880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctgaggtatcgacgaaGggtcaacagggatgaccagg	13	5	15	8	2	1	3	1	2	0	1	2	6	1	4	2	4	1	1	2	4	3	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:138379880G>C	ENST00000356818.2	+	4	4073	c.3524G>C	c.(3523-3525)aGg>aCg	p.R1175T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R1175T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R1175T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R1175T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R1175T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1175					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TATCGACGAAGGGTCAACAGG	0.607																																						uc022bpi.1																			0											c.(3523-3525)aGg>aCg		Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.							61	55	57					9																	138379880		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379880G>C	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3524G>C	9.37:g.138379880G>C	ENSP00000349274:p.Arg1175Thr					PPP1R26_uc004cfr.1_Missense_Mutation_p.R1175T	p.R1175T	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN			0	3524	+			1175					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.3524G>C	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053501	0.36181	.	.	ENSG00000196422	ENST00000356818	T	0.10005	2.92	4.45	0.389	0.16269	.	0.289862	0.29884	N	0.010953	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.23891	0.093	B	0.27170	0.077	T	0.37731	-0.9693	10	0.22109	T	0.4	-20.7153	5.913	0.19039	0.1902:0.4846:0.3252:0.0	.	1175	Q5T8A7	PPR26_HUMAN	T	1175	ENSP00000349274:R1175T	ENSP00000349274:R1175T	R	+	2	0	KIAA0649	137519701	0.005000	0.15991	0.007000	0.13788	0.034000	0.12701	0.555000	0.23422	0.198000	0.20407	0.484000	0.47621	AGG		0.607	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		C	138379880	G	C	138379880	3	2	114	1	0	0	0	0	1	0	0	0	8187	1000	35	5	3526	5	KIAA0649	9	138379880	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4839756	138379880	2833551	32	7738											
STAMBPL1	57559	broad.mit.edu	37	chr10	90674395	90674395	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggaatagaaacctgtGgaatactctgtggaaaactg	15	9	12	5	0	1	2	0	1	1	2	1	6	1	5	1	3	3	0	1	3	7	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr10:90674395G>T	ENST00000371926.3	+	7	1841	c.883G>T	c.(883-885)Gga>Tga	p.G295*	STAMBPL1_ENST00000371924.1_Nonsense_Mutation_p.G295*|STAMBPL1_ENST00000371927.3_Nonsense_Mutation_p.G295*|STAMBPL1_ENST00000371922.1_Nonsense_Mutation_p.G129*	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	295	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAACCTGTGGAATACTCTG	0.333																																						uc001kfk.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(883-885)Gga>Tga		Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.							79	77	78					10																	90674395		2203	4300	6503	SO:0001587	stop_gained	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90674395G>T	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.883G>T	10.37:g.90674395G>T	ENSP00000360994:p.Gly295*					STAMBPL1_uc010qmx.1_Nonsense_Mutation_p.G295*|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Nonsense_Mutation_p.G295*|STAMBPL1_uc001kfn.3_Nonsense_Mutation_p.G129*	p.G295*	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1306	+		Colorectal(252;0.0381)	295			MPN.		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Nonsense_Mutation	SNP	ENST00000371926.3	37	c.883G>T	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	47	13.543376	0.99748	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.7051	18.4401	0.90664	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;129	.	ENSP00000360990:G129X	G	+	1	0	STAMBPL1	90664375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.703000	0.92315	0.591000	0.81541	GGA		0.333	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		T	90674395	G	T	90674395	4	4	114	1	0	0	0	0	0	1	0	0	15250	1349	47	5	905	5	STAMBPL1	10	90674395	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		90674395	44860352	33	7739											
MUC5B	727897	broad.mit.edu	37	chr11	1266158	1266158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctcctctagcacacagaCcagtggtactcccccatcac	10	7	5	19	0	2	1	1	0	1	1	4	1	4	1	5	1	2	2	5	1	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:1266158C>G	ENST00000529681.1	+	31	8106	c.8048C>G	c.(8047-8049)aCc>aGc	p.T2683S	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2686S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2683	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCACACAGACCAGTGGTACT	0.622																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8047-8049)aCc>aGc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							31	41	38					11																	1266158		1831	3992	5823	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266158C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8048C>G	11.37:g.1266158C>G	ENSP00000436812:p.Thr2683Ser						p.T2683S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	8107	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2683	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8048C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	1.936	-0.444892	0.04604	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.35	1.4	-0.828	0.10799	.	.	.	.	.	T	0.18002	0.0432	M	0.65498	2.005	0.09310	N	1	B;B	0.31931	0.347;0.347	B;B	0.23150	0.044;0.044	T	0.17198	-1.0377	9	0.87932	D	0	.	5.0371	0.14440	0.0:0.3964:0.0:0.6036	.	3321;2686	A7Y9J9;E9PBJ0	.;.	S	2683;2686;2655;2698	ENSP00000436812:T2683S;ENSP00000415793:T2686S	ENSP00000343037:T2655S	T	+	2	0	MUC5B	1222734	0.092000	0.21681	0.000000	0.03702	0.026000	0.11368	-0.229000	0.09098	-0.279000	0.09167	0.205000	0.17691	ACC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1266158	C	G	1266158	3	3	114	1	0	0	0	0	1	0	0	0	9979	507	18	5	8179	5	MUC5B	11	1266158	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		1266158	133740358	34	7740											
IGSF22	283284	broad.mit.edu	37	chr11	18731138	18731138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaaggatgtagccagaggGtgggtctccctctgcaggct	7	9	14	11	0	3	1	1	0	2	1	4	2	3	2	2	4	2	3	2	4	2	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:18731138G>A	ENST00000513874.1	-	18	2933	c.2794C>T	c.(2794-2796)Ccc>Tcc	p.P932S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	831										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TAGCCAGAGGGTGGGTCTCCC	0.582																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2794-2796)Ccc>Tcc		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							59	63	61					11																	18731138		1957	4140	6097	SO:0001583	missense	283284							g.chr11:18731138G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2794C>T	11.37:g.18731138G>A	ENSP00000421191:p.Pro932Ser					IGSF22_uc001mpa.2_Non-coding_Transcript	p.P932S	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			17	2984	-			831					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.2794C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906537	0.33628	.	.	ENSG00000179057	ENST00000513874	T	0.57107	0.42	4.58	4.58	0.56647	.	.	.	.	.	T	0.59459	0.2195	L	0.29908	0.895	0.21499	N	0.999667	D	0.69078	0.997	D	0.77004	0.989	T	0.49862	-0.8894	9	0.72032	D	0.01	.	10.2635	0.43441	0.0941:0.0:0.9059:0.0	.	932	D6RGV7	.	S	932	ENSP00000421191:P932S	ENSP00000322422:P831S	P	-	1	0	IGSF22	18687714	0.334000	0.24739	0.545000	0.28153	0.860000	0.49131	0.823000	0.27366	2.394000	0.81467	0.655000	0.94253	CCC		0.582	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18731138	G	A	18731138	3	1	114	1	0	0	0	0	1	0	0	0	7600	1261	44	3	1210	3	IGSF22	11	18731138	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	17464980	18731138	116275378	35	7741											
SLC2A14	144195	broad.mit.edu	37	chr12	7980153	7980153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgatgatgggctgtcGgtagctggacactctaaaga	12	9	14	6	1	1	3	0	2	1	1	2	5	1	5	0	4	1	3	0	4	4	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:7980153G>A	ENST00000543909.1	-	12	1630	c.871C>T	c.(871-873)Cga>Tga	p.R291*	SLC2A14_ENST00000535295.1_Nonsense_Mutation_p.R182*|SLC2A14_ENST00000396589.2_Nonsense_Mutation_p.R291*|SLC2A14_ENST00000431042.2_Nonsense_Mutation_p.R268*|SLC2A14_ENST00000340749.5_Nonsense_Mutation_p.R268*|SLC2A14_ENST00000542546.1_Nonsense_Mutation_p.R182*|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Nonsense_Mutation_p.R306*			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	291					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATGGGCTGTCGGTAGCTGGAC	0.478																																						uc010sgh.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(916-918)Cga>Tga		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.							78	86	84					12																	7980153		2203	4300	6503	SO:0001587	stop_gained	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7980153G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.871C>T	12.37:g.7980153G>A	ENSP00000440480:p.Arg291*					SLC2A14_uc001qtk.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qtl.3_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.3_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.2_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.3_Intron	p.R306*	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	5	937	-			291					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Nonsense_Mutation	SNP	ENST00000543909.1	37	c.916C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876217	0.91664	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	.	.	.	3.58	1.65	0.23941	.	0.364938	0.31821	N	0.007018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1501	0.20306	0.1151:0.1917:0.6932:0.0	.	.	.	.	X	268;291;268;291;182;182;306	.	ENSP00000340450:R268X	R	-	1	2	SLC2A14	7871420	1.000000	0.71417	0.025000	0.17156	0.430000	0.31655	4.672000	0.61597	0.033000	0.15463	0.585000	0.79938	CGA		0.478	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		A	7980153	G	A	7980153	4	1	114	1	0	0	0	0	0	1	0	0	14543	1124	39	2	711	2	SLC2A14	12	7980153	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		7980153	125871742	36	7742											
SLC2A3	6515	broad.mit.edu	37	chr12	8082342	8082342	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgatgatgggctgtcGgtagctggacactctaaaga	12	9	14	6	1	1	3	0	2	1	1	2	5	1	5	0	4	1	3	0	4	4	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:8082342G>A	ENST00000075120.7	-	6	1039	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	267					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATGGGCTGTCGGTAGCTGGAC	0.473																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.3																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(799-801)Cga>Tga		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.							148	105	120					12																	8082342		2203	4300	6503	SO:0001587	stop_gained	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082342G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.799C>T	12.37:g.8082342G>A	ENSP00000075120:p.Arg267*						p.R267*	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	1061	-			267					B2R606|D3DUU6|Q6I9U2|Q9UG15	Nonsense_Mutation	SNP	ENST00000075120.7	37	c.799C>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	38	6.799965	0.97849	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	.	.	.	4.41	1.52	0.23074	.	0.364938	0.31821	N	0.007018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9326	0.19148	0.1832:0.1586:0.6582:0.0	.	.	.	.	X	267;193	.	ENSP00000075120:R267X	R	-	1	2	SLC2A3	7973609	1.000000	0.71417	0.059000	0.19551	0.928000	0.56348	4.793000	0.62474	0.210000	0.20664	0.462000	0.41574	CGA		0.473	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		A	8082342	G	A	8082342	4	1	114	1	0	0	0	0	0	1	0	0	14545	1124	39	2	711	2	SLC2A3	12	8082342	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	102189	8082342	125769553	37	7743											
IGF1	3479	broad.mit.edu	37	chr12	102813354	102813354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgacttggcaggcttgAggggtgcgcaatacatctcc	8	9	14	10	1	1	2	0	2	1	0	2	3	1	2	1	4	3	4	1	4	2	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:102813354A>G	ENST00000307046.8	-	3	516	c.335T>C	c.(334-336)cTc>cCc	p.L112P	IGF1_ENST00000337514.6_Missense_Mutation_p.L112P|IGF1_ENST00000424202.2_Missense_Mutation_p.L96P|IGF1_ENST00000392904.1_Missense_Mutation_p.L112P|IGF1_ENST00000456098.1_Missense_Mutation_p.L112P	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	112	D.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GGCAGGCTTGAGGGGTGCGCA	0.617																																						uc001tjp.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						c.(334-336)cTc>cCc		Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.							97	89	92					12																	102813354		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102813354A>G	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"Endogenous ligands"	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.335T>C	12.37:g.102813354A>G	ENSP00000302665:p.Leu112Pro					IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	p.L112P	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			2	554	-			112			D.		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.335T>C	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307288	0.40795	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.85	5.85	0.93711	Insulin-like (2);	0.472689	0.22726	N	0.056382	D	0.83050	0.5170	L	0.27053	0.805	0.46774	D	0.999198	B;P;D;P	0.58620	0.03;0.951;0.983;0.944	B;P;P;P	0.53988	0.005;0.627;0.739;0.732	D	0.83671	0.0166	10	0.52906	T	0.07	-26.2095	10.562	0.45150	0.9284:0.0:0.0716:0.0	.	112;143;96;112	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	P	112;112;112;96;93;112	ENSP00000394999:L112P;ENSP00000337612:L112P;ENSP00000376637:L112P;ENSP00000416811:L96P;ENSP00000376638:L93P;ENSP00000302665:L112P	ENSP00000302665:L112P	L	-	2	0	IGF1	101337484	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.034000	0.57289	2.234000	0.73211	0.533000	0.62120	CTC		0.617	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		G	102813354	A	G	102813354	3	3	114	1	0	0	0	0	1	0	0	0	7570	304	11	4	324	4	IGF1	12	102813354	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	94731012	102813354	31038541	38	7744											
RASAL1	8437	broad.mit.edu	37	chr12	113565893	113565893	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtcctcatccagcacGtagaaggccagctggtggaa	11	7	12	11	1	1	1	1	0	0	1	3	2	3	2	3	3	2	3	3	3	3	1	rs560024420		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:113565893G>C	ENST00000261729.5	-	4	528	c.213C>G	c.(211-213)taC>taG	p.Y71*	RASAL1_ENST00000546530.1_Nonsense_Mutation_p.Y71*|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.Y71*|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.Y71*|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	71	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCCAGCACGTAGAAGGCCA	0.607																																						uc001tun.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(211-213)taC>taG		Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.							257	251	253					12																	113565893		2203	4300	6503	SO:0001587	stop_gained	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565893G>C	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.213C>G	12.37:g.113565893G>C	ENSP00000261729:p.Tyr71*					RASAL1_uc010syp.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.3_Nonsense_Mutation_p.Y71*|RASAL1_uc001tum.2_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.2_Nonsense_Mutation_p.Y71*	p.Y71*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN			3	514	-			71			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Nonsense_Mutation	SNP	ENST00000261729.5	37	c.213C>G	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131927	0.94473	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	.	.	.	4.89	-4.54	0.03452	.	0.128004	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5726	0.61856	0.7055:0.0:0.2945:0.0	.	.	.	.	X	71	.	ENSP00000261729:Y71X	Y	-	3	2	RASAL1	112050276	0.960000	0.32886	0.963000	0.40424	0.546000	0.35178	0.026000	0.13599	-0.837000	0.04223	-0.948000	0.02665	TAC		0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		C	113565893	G	C	113565893	4	2	114	1	0	0	0	0	0	1	0	0	13063	1140	40	5	2277	5	RASAL1	12	113565893	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	10752539	113565893	20286002	39	7745											
OR10G2	26534	broad.mit.edu	37	chr14	22102746	22102746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaaaatccaaaataagccGaggaacggtgactgaggaga	18	5	12	6	2	0	3	0	2	0	1	1	6	1	4	2	3	2	1	2	3	6	2	rs141025992	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:22102746G>A	ENST00000542433.1	-	1	350	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	85			R -> L (in dbSNP:rs41314525).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAAATAAGCCGAGGAACGGTG	0.527													.|||	2	0.000399361	0.0015	0	5008	,	,		21781	0		0	False		,,,				2504	0					uc010tmc.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(253-255)Cgg>Tgg		Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.		G	TRP/ARG	9,4397	15.5+/-35.6	0,9,2194	62	57	59		253	2.9	0.6	14	dbSNP_134	59	0,8600		0,0,4300	no	missense	OR10G2	NM_001005466.1	101	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	85/311	22102746	9,12997	2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102746G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.253C>T	14.37:g.22102746G>A	ENSP00000445383:p.Arg85Trp						p.R85W	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	0	253	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	85		R -> L (in dbSNP:rs41314525).			B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.253C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330866	0.24167	0.002043	0.0	ENSG00000255582	ENST00000542433	T	0.03301	3.98	3.79	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.197894	0.24848	N	0.035104	T	0.11707	0.0285	M	0.80982	2.52	0.09310	N	1	D	0.69078	0.997	P	0.55161	0.77	T	0.04360	-1.0957	10	0.87932	D	0	-3.183	8.5293	0.33324	0.0:0.0:0.5793:0.4206	.	85	Q8NGC3	O10G2_HUMAN	W	85	ENSP00000445383:R85W	ENSP00000445383:R85W	R	-	1	2	OR10G2	21172586	0.001000	0.12720	0.638000	0.29380	0.073000	0.16967	0.942000	0.29017	0.767000	0.33267	0.563000	0.77884	CGG		0.527	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			A	22102746	G	A	22102746	3	1	114	1	0	0	0	0	1	0	0	0	10899	1057	37	2	682	2	OR10G2	14	22102746	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		22102746	85246794	40	7746											
EAPP	55837	broad.mit.edu	37	chr14	35005432	35005432	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattctctgatgagttttcGtttttggtcaggagttccat	7	18	9	7	1	2	2	1	2	1	0	5	3	3	3	1	2	0	3	1	2	0	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:35005432G>A	ENST00000250454.3	-	2	205	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	42					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGAGTTTTCGTTTTTGGTCA	0.318																																						uc001wsd.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(124-126)Cga>Tga		Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.							81	72	75					14																	35005432		1843	4095	5938	SO:0001587	stop_gained	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:35005432G>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.124C>T	14.37:g.35005432G>A	ENSP00000250454:p.Arg42*						p.R42*	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	1	233	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		42					Q9BVF4|Q9NWV5|Q9NZ86	Nonsense_Mutation	SNP	ENST00000250454.3	37	c.124C>T	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876560	0.97055	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	.	.	.	5.75	1.7	0.24286	.	0.053982	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6043	8.0257	0.30436	0.1268:0.0:0.643:0.2302	.	.	.	.	X	42;21	.	ENSP00000250454:R42X	R	-	1	2	EAPP	34075183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.855000	0.48333	0.402000	0.25451	-0.140000	0.14226	CGA		0.318	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		A	35005432	G	A	35005432	4	1	114	1	0	0	0	0	0	1	0	0	4877	1153	40	1	753	1	EAPP	14	35005432	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	12902686	35005432	72344108	41	7747											
C14orf49	161176	broad.mit.edu	37	chr14	95899695	95899695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccccttgctggcccgagacGaaggaggttctcaaagagat	10	7	12	12	2	1	2	1	0	1	2	2	6	1	3	3	3	1	2	3	3	2	2	rs141951711		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:95899695G>A	ENST00000334258.5	-	15	2604	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	SYNE3_ENST00000554873.1_Missense_Mutation_p.R621C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R859C	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	864			R -> H (in dbSNP:rs17092216).		cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGCCCGAGACGAAGGAGGTTC	0.597																																						uc001yei.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2590-2592)Cgt>Tgt		Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	98	99		2590	4.8	0.8	14	dbSNP_134	99	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	864/976	95899695	1,13005	2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95899695G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2590C>T	14.37:g.95899695G>A	ENSP00000334308:p.Arg864Cys					C14orf49_uc010avi.3_Missense_Mutation_p.R859C	p.R864C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	14	2605	-		all_cancers(154;0.0937)	864		R -> H (in dbSNP:rs17092216).			A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.2590C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143821	0.77888	2.27E-4	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.16196	3.4;2.36;3.41	5.72	4.83	0.62350	.	0.725517	0.11939	N	0.514957	T	0.31358	0.0794	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.56474	0.799;0.634	T	0.01001	-1.1485	10	0.52906	T	0.07	-0.0119	11.8297	0.52288	0.0824:0.0:0.9176:0.0	.	859;864	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	C	864;621;859	ENSP00000334308:R864C;ENSP00000452154:R621C;ENSP00000450562:R859C	ENSP00000334308:R864C	R	-	1	0	C14orf49	94969448	0.942000	0.31987	0.829000	0.32907	0.900000	0.52787	1.714000	0.37961	1.414000	0.47017	0.655000	0.94253	CGT		0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95899695	G	A	95899695	3	1	114	1	0	0	0	0	1	0	0	0	1776	1058	37	2	349	2	C14orf49	14	95899695	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	60894263	95899695	11449845	42	7748											
ARIH1	25820	broad.mit.edu	37	chr15	72767077	72767077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggaggacgaagacgacGacgagccggacgatgatacc	14	2	16	9	6	0	2	0	1	0	1	0	11	0	6	2	4	2	0	2	4	2	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:72767077G>A	ENST00000379887.4	+	1	411	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	33	Asp/Glu-rich (acidic).				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						cgaagacgacgacgaGCCGGA	0.682																																						uc002aut.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(97-99)Gac>Aac		Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.							61	61	61					15																	72767077		2196	4297	6493	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72767077G>A	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.97G>A	15.37:g.72767077G>A	ENSP00000369217:p.Asp33Asn						p.D33N	NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN			0	411	+			33			Asp/Glu-rich (acidic).		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.97G>A	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245479	0.59103	.	.	ENSG00000166233	ENST00000379887	D	0.87029	-2.2	3.55	2.62	0.31277	.	0.160581	0.40144	N	0.001172	T	0.72128	0.3422	N	0.14661	0.345	0.23314	N	0.997925	B	0.22080	0.064	B	0.04013	0.001	T	0.57470	-0.7806	10	0.26408	T	0.33	.	7.3672	0.26781	0.13:0.0:0.87:0.0	.	33	Q9Y4X5	ARI1_HUMAN	N	33	ENSP00000369217:D33N	ENSP00000369217:D33N	D	+	1	0	ARIH1	70554131	0.999000	0.42202	0.989000	0.46669	0.991000	0.79684	4.218000	0.58554	0.587000	0.29643	0.549000	0.68633	GAC		0.682	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		A	72767077	G	A	72767077	3	1	114	1	0	0	0	0	1	0	0	0	923	1058	37	2	99	2	ARIH1	15	72767077	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		72767077	29764315	43	7749											
ACSM2A	123876	broad.mit.edu	37	chr16	20492162	20492162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccggattggaccctcGgaggtagagaatgcactgat	11	8	14	8	2	0	2	0	1	0	1	1	6	0	5	2	5	2	3	2	5	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.S248S|ACSM2A_ENST00000396104.2_Silent_p.S476S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567																																						uc010bwe.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1426-1428)tcG>tcA		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.							105	94	98					16																	20492162		2203	4299	6502	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492162G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1428G>A	16.37:g.20492162G>A						ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.4_Silent_p.S476S|ACSM2A_uc002dhg.4_Silent_p.S476S|ACSM2A_uc010vay.2_Silent_p.S397S|ACSM2A_uc002dhh.4_Silent_p.S106S	p.S476S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1667	+			476					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1428G>A	CCDS32401.1																																																																																				0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20492162	G	A	20492162	2	1	114	1	0	0	0	0	0	0	0	1	183	1103	39	2		2	ACSM2A	16	20492162	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		20492162	69862591	44	7750											
HS3ST4	9951	broad.mit.edu	37	chr16	26147419	26147419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagacagcagtgccccgagGtgcttaggcaagagcaaagg	13	4	15	9	1	0	2	0	0	0	2	0	4	0	2	2	3	4	4	2	3	4	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:26147419G>A	ENST00000331351.5	+	2	1613	c.1221G>A	c.(1219-1221)agG>agA	p.R407R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	407					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTGCCCCGAGGTGCTTAGGCA	0.473																																						uc002dof.3																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(1219-1221)agG>agA		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.							54	49	51					16																	26147419		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147419G>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1221G>A	16.37:g.26147419G>A							p.R407R	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	1	1613	+			407					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.1221G>A	CCDS53995.1																																																																																				0.473	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		A	26147419	G	A	26147419	2	1	114	1	0	0	0	0	0	0	0	1	7367	1252	44	3		3	HS3ST4	16	26147419	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	5655257	26147419	64207334	45	7751											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897033	29897033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccgaatcatagatcaCgggggatagggggctgcccc	9	7	14	11	2	2	1	2	0	0	1	3	3	3	2	3	4	1	1	3	4	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:29897033C>T	ENST00000308713.5	-	8	1773	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.V346M|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.V372M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.V302M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	416	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATAGATCACGGGGGATAGG	0.612																																						uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1246-1248)Gtg>Atg		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.							56	52	54					16																	29897033		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29897033C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1246G>A	16.37:g.29897033C>T	ENSP00000312550:p.Val416Met					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.4_Missense_Mutation_p.V346M|SEZ6L2_uc002duq.4_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.2_Missense_Mutation_p.V372M|SEZ6L2_uc002dus.4_Missense_Mutation_p.V302M	p.V416M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			7	1491	-			416			CUB 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1246G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994671	0.54041	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.85	4.88	0.63580	CUB (4);	0.145674	0.31636	N	0.007316	T	0.29914	0.0748	L	0.38175	1.15	0.26113	N	0.980652	P;P;P;P;P;P	0.51240	0.889;0.658;0.943;0.776;0.53;0.856	B;B;B;B;B;B	0.35182	0.197;0.04;0.115;0.088;0.025;0.135	T	0.38243	-0.9670	10	0.44086	T	0.13	.	7.2344	0.26062	0.0:0.6885:0.2181:0.0933	.	372;416;302;346;416;346	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	346;416;302;372	ENSP00000310206:V346M;ENSP00000312550:V416M;ENSP00000319215:V302M;ENSP00000439412:V372M	ENSP00000312550:V416M	V	-	1	0	SEZ6L2	29804534	0.849000	0.29639	0.967000	0.41034	0.984000	0.73092	1.213000	0.32407	2.785000	0.95823	0.645000	0.84053	GTG		0.612	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29897033	C	T	29897033	3	4	114	1	0	0	0	0	1	0	0	0	14144	536	19	1	1569	1	SEZ6L2	16	29897033	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	3749614	29897033	60457720	46	7752											
LONP2	83752	broad.mit.edu	37	chr16	48303999	48303999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggaaaaattgaagaaaaGagtactggaatacttggctg	17	9	11	4	0	0	3	0	1	0	2	0	5	0	5	0	3	2	2	0	3	8	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:48303999G>A	ENST00000285737.4	+	7	1148	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	LONP2_ENST00000535754.1_Missense_Mutation_p.R308K	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGAAAAGAGTACTGGAA	0.443																																						uc002efi.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1054-1056)aGa>aAa		Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.							74	71	72					16																	48303999		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48303999G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1055G>A	16.37:g.48303999G>A	ENSP00000285737:p.Arg352Lys					MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R308K	p.R352K	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			6	1144	+			352						Missense_Mutation	SNP	ENST00000285737.4	37	c.1055G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605076	0.96626	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.41400	1.0;1.0;1.0	5.64	5.64	0.86602	.	0.092204	0.64402	D	0.000001	T	0.73598	0.3607	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.991;0.994	T	0.79553	-0.1756	10	0.87932	D	0	-24.4115	19.7174	0.96129	0.0:0.0:1.0:0.0	.	308;352	B7ZKL7;Q86WA8	.;LONP2_HUMAN	K	352;81;308;308	ENSP00000285737:R352K;ENSP00000445426:R308K;ENSP00000415983:R308K	ENSP00000285737:R352K	R	+	2	0	LONP2	46861500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.837000	0.99465	2.653000	0.90120	0.655000	0.94253	AGA		0.443	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		A	48303999	G	A	48303999	3	1	114	1	0	0	0	0	1	0	0	0	8893	942	33	3	1081	3	LONP2	16	48303999	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	18406966	48303999	42050754	47	7753											
PMFBP1	83449	broad.mit.edu	37	chr16	72184650	72184650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgtccccggccaaggCgagttgctcctgcgccaaat	7	9	11	14	3	1	0	0	0	1	0	3	2	3	0	5	2	2	2	5	2	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:72184650C>T	ENST00000237353.10	-	5	754	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A20T|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A165T	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	165						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGGCCAAGGCGAGTTGCTCC	0.493																																						uc002fcc.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(493-495)Gcc>Acc		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							120	110	114					16																	72184650		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184650C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.493G>A	16.37:g.72184650C>T	ENSP00000237353:p.Ala165Thr					PMFBP1_uc002fcd.3_Missense_Mutation_p.A165T|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A20T	p.A165T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	665	-		Ovarian(137;0.179)	165					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.493G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832987	0.91036	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.78246	-1.16;-1.16;1.93	6.17	4.17	0.49024	.	0.252473	0.28635	N	0.014649	T	0.56529	0.1991	N	0.24115	0.695	0.25731	N	0.985263	P;P;P	0.48350	0.909;0.861;0.861	B;B;B	0.35182	0.197;0.173;0.173	T	0.50874	-0.8776	10	0.24483	T	0.36	-2.7548	7.9693	0.30117	0.1579:0.7617:0.0:0.0804	.	165;165;165	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	T	165;165;20	ENSP00000443817:A165T;ENSP00000237353:A165T;ENSP00000347854:A20T	ENSP00000237353:A165T	A	-	1	0	PMFBP1	70742151	0.987000	0.35691	0.997000	0.53966	0.992000	0.81027	1.548000	0.36201	1.630000	0.50440	0.655000	0.94253	GCC		0.493	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		T	72184650	C	T	72184650	3	4	114	1	0	0	0	0	1	0	0	0	12134	768	27	1	2658	1	PMFBP1	16	72184650	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	23880651	72184650	18170103	48	7754											
TP53	7157	broad.mit.edu	37	chr17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgtgctgtgactgctTgtagatggccatggcgcgga	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:7578440T>C	ENST00000269305.4	-	5	679	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_ENST00000413465.2_Missense_Mutation_p.K164E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K164E|TP53_ENST00000455263.2_Missense_Mutation_p.K164E|TP53_ENST00000359597.4_Missense_Mutation_p.K164E|TP53_ENST00000445888.2_Missense_Mutation_p.K164E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	164	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K164E(15)|p.K164*(11)|p.0?(8)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.K71E(1)|p.K164fs*17(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.K32E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTGACTGCTTGTAGATGGCC	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Substitution - Missense(19)|Substitution - Nonsense(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.Y163C(112)|p.K164E(28)|p.K164*(22)|p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163*(7)|p.K164N(6)|p.Y163S(5)|p.K164M(4)|p.K164Q(4)|p.K164fs*6(4)|p.K164fs*3(4)|p.Y163fs*1(3)|p.Y163Y(3)|p.Y163D(3)|p.K164fs*5(3)|p.V157_C176del20(2)|p.Y163_Q165delYKQ(2)|p.P151_V173del23(2)|p.Y163fs*7(2)|p.K164T(2)|p.K164fs*17(2)|p.K164K(2)|p.Y163fs*14(2)|p.A159_Q167delAMAIYKQSQ(2)|p.I162_Y163>N(1)|p.K164_P219del(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.I162_Y163delIY(1)|p.K71E(1)|p.K164R(1)|p.K32E(1)|p.Y163fs*18(1)	lung(12)|central_nervous_system(6)|bone(5)|urinary_tract(4)|breast(4)|oesophagus(4)|upper_aerodigestive_tract(3)|large_intestine(3)|ovary(3)|liver(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(490-492)Aag>Gag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							54	54	54					17																	7578440		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578440T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.490A>G	17.37:g.7578440T>C	ENSP00000269305:p.Lys164Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.3_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.2_Missense_Mutation_p.K125E	p.K164E	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	684	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	164		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.490A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195088	0.58017	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.59	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.62088	1.915	0.58432	D	0.999992	D;D;D;D;D;P;D	0.89917	0.986;0.996;0.965;0.998;0.997;0.95;1.0	D;D;P;D;D;P;D	0.85130	0.934;0.952;0.76;0.98;0.972;0.9;0.997	D	0.98302	1.0519	10	0.87932	D	0	-15.5455	10.4804	0.44689	0.1456:0.0:0.0:0.8544	.	125;164;164;71;164;164;164	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	164;164;164;164;164;164;153;71;32;71;32;164	ENSP00000410739:K164E;ENSP00000352610:K164E;ENSP00000269305:K164E;ENSP00000398846:K164E;ENSP00000391127:K164E;ENSP00000391478:K164E;ENSP00000425104:K32E;ENSP00000423862:K71E;ENSP00000424104:K164E	ENSP00000269305:K164E	K	-	1	0	TP53	7519165	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.996000	0.88334	1.039000	0.40074	-0.336000	0.08194	AAG		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578440	T	C	7578440	3	2	114	1	0	0	0	0	1	0	0	0	16378	1821	63	4	808	4	TP53	17	7578440	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08		7578440	73616770	49	7755											
MYOCD	93649	broad.mit.edu	37	chr17	12655804	12655804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaacggctctcatggaccGgcttcgacccttccaggact	9	8	9	15	3	1	0	1	0	1	0	4	3	2	2	3	4	1	2	3	4	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:12655804G>A	ENST00000343344.4	+	10	1199	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	AC005358.1_ENST00000609971.1_Missense_Mutation_p.R304Q|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.R400Q			Q8IZQ8	MYCD_HUMAN	myocardin	400	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATGGACCGGCTTCGACCC	0.507																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1198-1200)cGg>cAg		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.							81	80	80					17																	12655804		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655804G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1199G>A	17.37:g.12655804G>A	ENSP00000341835:p.Arg400Gln					MYOCD_uc002gnn.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	p.R400Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	9	1498	+			400			SAP.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1199G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648487	0.96714	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	D;D	0.87809	-2.27;-2.3	5.78	5.78	0.91487	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95392	0.8482	10	0.87932	D	0	-33.8002	18.7674	0.91879	0.0:0.0:1.0:0.0	.	119;304;400;400	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	Q	119;400;400;304;105	ENSP00000341835:R400Q;ENSP00000400148:R105Q	ENSP00000341835:R400Q	R	+	2	0	MYOCD	12596529	1.000000	0.71417	0.940000	0.37924	0.995000	0.86356	9.807000	0.99171	2.731000	0.93534	0.591000	0.81541	CGG		0.507	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12655804	G	A	12655804	3	1	114	1	0	0	0	0	1	0	0	0	10087	1116	39	2	1237	2	MYOCD	17	12655804	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	5077364	12655804	68539406	50	7756											
KRT12	3859	broad.mit.edu	37	chr17	39019850	39019850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgctaatctccttacGgagctccccgctctgcaaca	7	11	9	14	2	2	0	0	0	2	0	4	1	3	1	3	2	5	5	3	2	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:39019850G>A	ENST00000251643.4	-	5	1005	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	328	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ATCTCCTTACGGAGCTCCCCG	0.567																																						uc002hvk.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(982-984)Cgt>Tgt		Homo sapiens keratin 12 (KRT12), mRNA.							75	66	69					17																	39019850		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019850G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.982C>T	17.37:g.39019850G>A	ENSP00000251643:p.Arg328Cys						p.R328C	NM_000223	NP_000214	Q99456	K1C12_HUMAN			4	1006	-		Breast(137;0.000301)	328			Coil 2.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.982C>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482921	0.63962	.	.	ENSG00000187242	ENST00000251643	T	0.78595	-1.19	5.44	-1.34	0.09143	Filament (1);	0.114803	0.38778	N	0.001576	T	0.78065	0.4225	L	0.37561	1.115	0.09310	N	0.999999	D	0.76494	0.999	P	0.57679	0.825	T	0.76138	-0.3069	10	0.87932	D	0	.	16.2623	0.82552	0.0:0.0:0.559:0.441	.	328	Q99456	K1C12_HUMAN	C	328	ENSP00000251643:R328C	ENSP00000251643:R328C	R	-	1	0	KRT12	36273376	0.000000	0.05858	0.195000	0.23364	0.951000	0.60555	-0.200000	0.09478	-0.610000	0.05716	-0.448000	0.05591	CGT		0.567	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		A	39019850	G	A	39019850	3	1	114	1	0	0	0	0	1	0	0	0	8449	1116	39	2	518	2	KRT12	17	39019850	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	26364046	39019850	42175360	51	7757											
COL1A1	1277	broad.mit.edu	37	chr17	48275131	48275131	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggacctgggggacctcGgggacccatgggaccctaga	8	4	18	11	1	0	1	0	0	0	1	1	5	0	5	4	7	0	0	4	7	1	1	rs72667036		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:48275131G>A	ENST00000225964.5	-	9	776	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	220	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R220*(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGGGGACCTCGGGGACCCATG	0.507			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	1	Substitution - Nonsense(1)	p.R220*(2)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71	GRCh37	CM980389	COL1A1	M	rs72667036	c.(658-660)Cga>Tga		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						77	88	84					17																	48275131		2202	4300	6502	SO:0001587	stop_gained	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48275131G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.658C>T	17.37:g.48275131G>A	ENSP00000225964:p.Arg220*						p.R220*	NM_000088	NP_000079	P02452	CO1A1_HUMAN			8	784	-			220			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Nonsense_Mutation	SNP	ENST00000225964.5	37	c.658C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	39	7.441965	0.98286	.	.	ENSG00000108821	ENST00000225964	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0174	0.86423	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000225964:R220X	R	-	1	2	COL1A1	45630130	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.758000	0.98927	2.357000	0.79964	0.655000	0.94253	CGA		0.507	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			A	48275131	G	A	48275131	4	1	114	1	0	0	0	0	0	1	0	0	3677	1124	39	2	3908	2	COL1A1	17	48275131	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	9255281	48275131	32920079	52	7758											
ABCA6	23460	broad.mit.edu	37	chr17	67098976	67098976	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaaaggcaaacatacCttttgtttaccagaaactat	18	10	5	8	0	0	1	0	0	0	1	0	1	0	1	2	1	5	3	2	1	8	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:67098976C>A	ENST00000284425.2	-	21	3048	c.2874G>T	c.(2872-2874)aaG>aaT	p.K958N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	958					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAAACATACCTTTTGTTTAC	0.313																																						uc002jhw.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.e21+1		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							76	70	72					17																	67098976		2202	4289	6491	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67098976C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2874+1G>T	17.37:g.67098976C>A							p.K958_splice	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			21	3049	-	Breast(10;5.65e-12)		958					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2874_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745454	0.49151	.	.	ENSG00000154262	ENST00000284425	D	0.87179	-2.22	5.02	2.99	0.34606	.	0.239357	0.28883	N	0.013821	D	0.90597	0.7052	M	0.87682	2.9	0.80722	D	1	P	0.45176	0.852	P	0.52343	0.696	D	0.89126	0.3506	9	.	.	.	.	7.4774	0.27385	0.0:0.733:0.0:0.267	.	958	Q8N139	ABCA6_HUMAN	N	958	ENSP00000284425:K958N	.	K	-	3	2	ABCA6	64610571	1.000000	0.71417	0.969000	0.41365	0.697000	0.40408	1.492000	0.35594	0.801000	0.34066	0.462000	0.41574	AAG		0.313	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation	A	67098976	C	A	67098976	5	1	114	1	0	0	0	0	0	0	1	0	36	695	24	5	2055	5	ABCA6	17	67098976	Splice_Site	SNP	C	TCGA-12-0619-01A-01D-1492-08	18823845	67098976	14096234	53	7759											
SDK2	54549	broad.mit.edu	37	chr17	71426663	71426663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacctgatggttactcGggggtcgtgggtcactccgc	5	10	14	12	3	1	1	1	1	0	0	4	1	2	1	3	4	2	2	3	4	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:71426663G>A	ENST00000392650.3	-	12	1570	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.R524*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	524	Ig-like C2-type 6.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGGTTACTCGGGGGTCGTGG	0.602																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1570-1572)Cga>Tga		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							46	35	38					17																	71426663		2203	4300	6503	SO:0001587	stop_gained	54549				cell adhesion	integral to membrane		g.chr17:71426663G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1570C>T	17.37:g.71426663G>A	ENSP00000376421:p.Arg524*					SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	p.R524*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			11	1570	-			524			Ig-like C2-type 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	ENST00000392650.3	37	c.1570C>T	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.260587|5.260587	0.95368|0.95368	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000416616|ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	.|.	.|.	.|.	3.89|3.89	1.23|1.23	0.21249|0.21249	.|.	.|0.055057	.|0.64402	.|D	.|0.000001	T|.	0.32941|.	0.0846|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38045|.	-0.9679|.	4|.	0.72032|0.11485	D|T	0.01|0.65	.|.	10.0903|10.0903	0.42443|0.42443	0.0:0.0:0.3117:0.6883|0.0:0.0:0.3117:0.6883	.|.	.|.	.|.	.|.	L|X	428|148;524;524;524	.|.	ENSP00000400371:P428L|ENSP00000324967:R524X	P|R	-|-	2|1	0|2	SDK2|SDK2	68938258|68938258	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.120000|0.120000	0.20174|0.20174	3.393000|3.393000	0.52544|0.52544	0.685000|0.685000	0.31468|0.31468	0.462000|0.462000	0.41574|0.41574	CCG|CGA		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71426663	G	A	71426663	4	1	114	1	0	0	0	0	0	1	0	0	13969	1124	39	2	5084	2	SDK2	17	71426663	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4327687	71426663	9768547	54	7760											
CELF4	56853	broad.mit.edu	37	chr18	34853005	34853005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtcataggtgcggccGccaggccattcatgttgagg	6	10	16	9	2	2	1	2	1	0	0	2	1	2	1	3	6	1	1	3	6	1	4	rs372830155		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr18:34853005G>A	ENST00000591282.1	-	7	922	c.923C>T	c.(922-924)gCg>gTg	p.A308V	CELF4_ENST00000591287.1_Missense_Mutation_p.A307V|CELF4_ENST00000601019.1_Missense_Mutation_p.A306V|CELF4_ENST00000588597.1_Missense_Mutation_p.A297V|CELF4_ENST00000334919.5_Missense_Mutation_p.A298V|CELF4_ENST00000603232.1_Missense_Mutation_p.A307V|CELF4_ENST00000412753.1_Missense_Mutation_p.A307V|CELF4_ENST00000361795.5_Missense_Mutation_p.A306V|CELF4_ENST00000420428.2_Missense_Mutation_p.A308V|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	308	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A308V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGTGCGGCCGCCAGGCCATT	0.652																																						uc002lae.2																			1	Substitution - Missense(1)	p.A308V(2)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(922-924)gCg>gTg		Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	28	31	30		920,917,893,923	5.2	1	18		30	2,8594		0,2,4296	no	missense,missense,missense,missense	CELF4	NM_001025087.1,NM_001025088.1,NM_001025089.1,NM_020180.3	64,64,64,64	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign	307/486,306/485,298/449,308/487	34853005	2,13000	2203	4298	6501	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853005G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.923C>T	18.37:g.34853005G>A	ENSP00000464794:p.Ala308Val					CELF4_uc021uix.1_Missense_Mutation_p.A306V|CELF4_uc021uiy.1_Missense_Mutation_p.A307V|CELF4_uc002lag.2_Missense_Mutation_p.A298V|CELF4_uc002laf.2_Missense_Mutation_p.A303V|CELF4_uc002lai.2_Missense_Mutation_p.A293V|CELF4_uc002lah.2_Missense_Mutation_p.A33V|CELF4_uc002laj.1_Silent_p.G143G	p.A308V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			6	1319	-			308			Ala-rich.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.923C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905577	0.33628	0.0	2.33E-4	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T	0.75260	-0.92;-0.87;-0.92	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);	0.160554	0.56097	D	0.000030	T	0.56016	0.1957	N	0.03948	-0.315	0.47778	D	0.999515	B;B;B;B;B;B	0.28998	0.0;0.001;0.23;0.172;0.0;0.001	B;B;B;B;B;B	0.30495	0.002;0.0;0.116;0.023;0.002;0.002	T	0.55444	-0.8140	10	0.27785	T	0.31	-7.6448	18.9627	0.92682	0.0:0.0:1.0:0.0	.	306;297;33;298;307;308	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	V	308;307;306;298	ENSP00000355089:A308V;ENSP00000406823:A307V;ENSP00000335631:A298V	ENSP00000335631:A298V	A	-	2	0	CELF4	33107003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.336000	0.59304	2.715000	0.92844	0.655000	0.94253	GCG		0.652	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		A	34853005	G	A	34853005	3	1	114	1	0	0	0	0	1	0	0	0	3218	1087	38	1	561	1	CELF4	18	34853005	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		34853005	43224243	55	7761											
MUC16	94025	broad.mit.edu	37	chr19	9067037	9067037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggtgaaggcatcagggaAgaggagaagctggttttctc	10	9	16	6	0	2	3	1	1	1	2	3	5	2	4	0	5	1	4	0	5	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:9067037A>G	ENST00000397910.4	-	3	20612	c.20409T>C	c.(20407-20409)tcT>tcC	p.S6803S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6805	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATCAGGGAAGAGGAGAAGC	0.473																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20407-20409)tcT>tcC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							138	142	141					19																	9067037		2095	4228	6323	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067037A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20409T>C	19.37:g.9067037A>G							p.S6803S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	20613	-			6805			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20409T>C	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9067037	A	G	9067037	2	3	114	1	0	0	0	0	0	0	0	1	9973	59	3	4		4	MUC16	19	9067037	Silent	SNP	A	TCGA-12-0619-01A-01D-1492-08		9067037	50061946	56	7762											
GLT25D1	79709	broad.mit.edu	37	chr19	17679388	17679388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggctgctttgcagttcCcatggtgcactcgaccttcc	4	11	11	15	2	0	0	0	0	0	0	3	1	2	0	4	3	3	5	4	3	0	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:17679388C>T	ENST00000252599.4	+	5	815	c.695C>T	c.(694-696)cCc>cTc	p.P232L	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	232					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TTTGCAGTTCCCATGGTGCAC	0.617																																						uc002nhc.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(694-696)cCc>cTc		Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.							161	122	136					19																	17679388		2203	4300	6503	SO:0001583	missense	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17679388C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.695C>T	19.37:g.17679388C>T	ENSP00000252599:p.Pro232Leu					GLT25D1_uc010eax.1_5'UTR	p.P232L	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			4	707	+			232					Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.695C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118283	0.94385	.	.	ENSG00000130309	ENST00000252599	T	0.24538	1.85	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72037	-0.4411	10	0.56958	D	0.05	-10.3281	15.8686	0.79091	0.0:1.0:0.0:0.0	.	232	Q8NBJ5	GT251_HUMAN	L	232	ENSP00000252599:P232L	ENSP00000252599:P232L	P	+	2	0	GLT25D1	17540388	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.670000	0.83925	2.356000	0.79943	0.491000	0.48974	CCC		0.617	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		T	17679388	C	T	17679388	3	4	114	1	0	0	0	0	1	0	0	0	6466	623	22	3	713	3	GLT25D1	19	17679388	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	8612351	17679388	41449595	57	7763											
RSPH6A	81492	broad.mit.edu	37	chr19	46318327	46318327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcggggtccgctgcCagggcctgagcttggtcccg	2	9	14	16	3	1	1	0	1	1	0	5	1	3	1	5	4	2	2	5	4	0	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:46318327C>T	ENST00000221538.3	-	1	250	c.108G>A	c.(106-108)ctG>ctA	p.L36L	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Silent_p.L36L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	36						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCCGCTGCCAGGGCCTGAG	0.687																																						uc002pdm.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(106-108)ctG>ctA		Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.							32	34	34					19																	46318327		2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46318327C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.108G>A	19.37:g.46318327C>T							p.L36L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			0	279	-			36					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.108G>A	CCDS12675.1																																																																																				0.687	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			T	46318327	C	T	46318327	2	4	114	1	0	0	0	0	0	0	0	1	13707	581	21	3		3	RSPH6A	19	46318327	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	28638939	46318327	12810656	58	7764											
SHANK1	50944	broad.mit.edu	37	chr19	51205808	51205808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccatgaaggagcgtccggGtaccgctgagtagagcttcc	9	7	14	11	3	0	3	0	2	0	1	2	4	2	4	4	2	4	4	4	2	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51205808G>A	ENST00000293441.1	-	11	1681	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	SHANK1_ENST00000359082.3_Missense_Mutation_p.P555S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P555S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	555	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGCGTCCGGGTACCGCTGAG	0.697																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1663-1665)Ccc>Tcc		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							48	38	42					19																	51205808		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205808G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1663C>T	19.37:g.51205808G>A	ENSP00000293441:p.Pro555Ser						p.P555S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1682	-		all_neural(266;0.057)	555			SH3.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1663C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.281994	0.40394	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.13778	2.56;2.56;2.56	3.55	3.55	0.40652	Src homology-3 domain (2);	0.000000	0.64402	U	0.000004	T	0.30947	0.0781	L	0.58302	1.8	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.09552	-1.0669	10	0.87932	D	0	-14.9361	15.0802	0.72108	0.0:0.0:1.0:0.0	.	555	Q9Y566	SHAN1_HUMAN	S	555	ENSP00000293441:P555S;ENSP00000351984:P555S;ENSP00000375690:P555S	ENSP00000293441:P555S	P	-	1	0	SHANK1	55897620	1.000000	0.71417	0.155000	0.22561	0.635000	0.38103	8.523000	0.90576	2.286000	0.76751	0.555000	0.69702	CCC		0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51205808	G	A	51205808	3	1	114	1	0	0	0	0	1	0	0	0	14264	1261	44	3	4874	3	SHANK1	19	51205808	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4887481	51205808	7923175	59	7765											
GPR32	2854	broad.mit.edu	37	chr19	51274077	51274077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcttccgtatggcaCgcacggtctccaccgtctgc	5	11	10	15	4	3	1	0	1	3	0	5	1	4	1	3	2	1	3	3	2	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51274077C>T	ENST00000270590.4	+	1	357	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	74					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTATGGCACGCACGGTCTC	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.2																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(220-222)Cgc>Tgc		Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.							214	162	179					19																	51274077		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274077C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.220C>T	19.37:g.51274077C>T	ENSP00000270590:p.Arg74Cys						p.R74C	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	0	220	+		all_neural(266;0.131)	74					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.220C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398315	0.25205	.	.	ENSG00000142511	ENST00000270590	T	0.46063	0.88	2.73	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41143	0.1146	M	0.67569	2.06	0.36230	D	0.852559	P	0.45827	0.867	P	0.45794	0.493	T	0.50145	-0.8862	9	0.87932	D	0	.	3.9854	0.09513	0.2298:0.6285:0.0:0.1417	.	74	O75388	GPR32_HUMAN	C	74	ENSP00000270590:R74C	ENSP00000270590:R74C	R	+	1	0	GPR32	55965889	0.941000	0.31946	0.003000	0.11579	0.219000	0.24729	2.347000	0.44036	0.419000	0.25927	0.313000	0.20887	CGC		0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			T	51274077	C	T	51274077	3	4	114	1	0	0	0	0	1	0	0	0	6688	536	19	1	222	1	GPR32	19	51274077	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	68269	51274077	7854906	60	7766											
TTYH1	57348	broad.mit.edu	37	chr19	54947301	54947304	+	Frame_Shift_Del	DEL	TCTA	TCTA	-																															gctttgtgcagtggcagtcgTctatctgagcccctcctccc																										TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:54947301_54947304delTCTA	ENST00000376530.3	+	13	1448_1451	c.1345_1348delTCTA	c.(1345-1350)tctatcfs	p.SI449fs	TTYH1_ENST00000489425.1_3'UTR|CTD-2587H19.2_ENST00000596631.1_RNA|TTYH1_ENST00000301194.4_Frame_Shift_Del_p.SI450fs|TTYH1_ENST00000391739.3_3'UTR|AC008746.3_ENST00000457113.1_RNA|CTD-2587H19.3_ENST00000597355.1_lincRNA|AC008746.12_ENST00000599382.1_lincRNA|TTYH1_ENST00000376531.3_Frame_Shift_Del_p.RL433fs	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	449					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGGCAGTCGTCTATCTGAGCCCC	0.642																																						uc002qfr.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1297-1302)cgtctafs		Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54947301_54947304delTCTA	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1345_1348delTCTA	19.37:g.54947301_54947304delTCTA	ENSP00000365713:p.Ser449fs					TTYH1_uc010yey.2_3'UTR|TTYH1_uc002qfq.3_Frame_Shift_Del_p.S449fs|TTYH1_uc002qft.3_Frame_Shift_Del_p.S450fs	p.R433fs	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	11	1421_1424	+	Ovarian(34;0.19)		0			Poly-Asp.		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Frame_Shift_Del	DEL	ENST00000376530.3	37	c.1299_1302delTCTA	CCDS12893.1																																																																																				0.642	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			-	54947304	TCTA	-	54947301	7	5	114	1	0	1	0	1	0	0	0	0	16736	1667	58	0	1395	0	TTYH1	19	54947301	Frame_Shift_Del	DEL	TCTA	TCGA-12-0619-01A-01D-1492-08	3673224	54947301	4181682	61	7767											
SBK2	646643	broad.mit.edu	37	chr19	56047417	56047417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctcgtacctttctgaCgatgggtgaccagaaggacg	10	8	12	11	3	1	3	0	2	1	1	2	5	1	4	3	2	2	1	3	2	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:56047417C>T	ENST00000413299.1	-	2	282	c.245G>A	c.(244-246)cGt>cAt	p.R82H	SBK2_ENST00000344158.3_Missense_Mutation_p.R82H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCTTTCTGACGATGGGTGAC	0.682																																						uc010ygc.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(244-246)cGt>cAt		Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.							34	36	35					19																	56047417		1998	4154	6152	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047417C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.245G>A	19.37:g.56047417C>T	ENSP00000389015:p.Arg82His						p.R82H	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			1	260	-			82			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.245G>A	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539014	0.45176	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.66280	-0.2;-0.2	4.6	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123006	0.51477	D	0.000091	T	0.57095	0.2030	M	0.76002	2.32	0.21697	N	0.999586	P	0.40553	0.721	B	0.37888	0.26	T	0.57476	-0.7805	10	0.62326	D	0.03	-8.0204	5.9994	0.19511	0.1908:0.7111:0.0:0.0981	.	82	P0C263	SBK2_HUMAN	H	82	ENSP00000389015:R82H;ENSP00000345044:R82H	ENSP00000345044:R82H	R	-	2	0	SBK2	60739229	.	.	0.229000	0.23960	0.800000	0.45204	.	.	1.041000	0.40125	0.462000	0.41574	CGT		0.682	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		T	56047417	C	T	56047417	3	4	114	1	0	0	0	0	1	0	0	0	13861	536	19	1	812	1	SBK2	19	56047417	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	1100116	56047417	3081566	62	7768											
HCK	3055	broad.mit.edu	37	chr20	30672225	30672225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgccagaaactgtcGgtgccctgcatgtcttccaa	7	10	11	13	1	2	1	0	0	2	1	4	1	3	1	3	2	4	2	3	2	2	1	rs147876395		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr20:30672225G>A	ENST00000520553.1	+	8	897	c.651G>A	c.(649-651)tcG>tcA	p.S217S	HCK_ENST00000375862.2_Silent_p.S237S|HCK_ENST00000538448.1_Silent_p.S217S|HCK_ENST00000375852.2_Silent_p.S238S|HCK_ENST00000518730.1_Silent_p.S216S|HCK_ENST00000534862.1_Silent_p.S218S	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	238	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.S217S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AGAAACTGTCGGTGCCCTGCA	0.587																																						uc002wxh.3																			1	Substitution - coding silent(1)	p.S217S(1)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(712-714)tcG>tcA		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	49	47	48		651,711,648,654,651,714	-9.5	0.8	20	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	217/506,237/526,216/505,218/507,217/506,238/527	30672225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30672225G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.651G>A	20.37:g.30672225G>A						HCK_uc010gdy.3_Silent_p.S218S|HCK_uc021wbv.1_Silent_p.S217S|HCK_uc002wxi.3_Silent_p.S216S	p.S238S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	951	+			238			SH2.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.714G>A	CCDS54455.1																																																																																				0.587	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			A	30672225	G	A	30672225	2	1	114	1	0	0	0	0	0	0	0	1	6994	1103	39	2		2	HCK	20	30672225	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		30672225	32353295	63	7769											
RIMBP3	85376	broad.mit.edu	37	chr22	20458191	20458191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggtgtagcagctcacGcccgctggggtcagggcatg	7	7	17	10	2	2	0	2	0	0	0	2	1	2	1	1	5	2	5	1	5	2	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:20458191G>A	ENST00000426804.1	-	1	3595	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1037	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCAGCTCACGCCCGCTGGGG	0.642																																						uc002zsd.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(3109-3111)ggC>ggT		Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.																																				SO:0001819	synonymous_variant	85376							g.chr22:20458191G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3111C>T	22.37:g.20458191G>A						RN7SK_uc021wlw.1_5'Flank	p.G1037G	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		0	3596	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	c.3111C>T	CCDS46665.1																																																																																				0.642	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		A	20458191	G	A	20458191	2	1	114	1	0	0	0	0	0	0	0	1	13364	1074	38	1		1	RIMBP3	22	20458191	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		20458191	30846375	64	7770											
CSF2RB	1439	broad.mit.edu	37	chr22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgagggaggggctcGgcagcctccacaccaggcac	8	4	15	14	1	0	1	0	1	0	0	2	2	1	2	3	5	2	4	3	5	0	0	rs576486802	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:37326752G>A	ENST00000403662.3	+	8	1114	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_ENST00000406230.1_Missense_Mutation_p.G304S|CSF2RB_ENST00000262825.5_Missense_Mutation_p.G304S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G245S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	298					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													G|||	4	0.000798722	0	0	5008	,	,		16639	0		0	False		,,,				2504	0.0041					uc003aqa.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(892-894)Ggc>Agc		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						46	41	43					22																	37326752		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326752G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.892G>A	22.37:g.37326752G>A	ENSP00000384053:p.Gly298Ser					CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	p.G298S	NM_000395	NP_000386	P32927	IL3RB_HUMAN			7	1109	+			298					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.892G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142053	0.09083	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	D;D;D;T;D	0.83914	-1.78;-1.78;-1.78;0.06;-1.78	5.36	-10.7	0.00240	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.633610	0.03994	N	0.295401	T	0.60274	0.2256	N	0.08118	0	0.09310	N	1	B;B	0.26845	0.161;0.076	B;B	0.19148	0.02;0.024	T	0.56535	-0.7963	10	0.22706	T	0.39	0.4652	8.06	0.30627	0.1926:0.325:0.4228:0.0596	.	304;298	P32927-2;P32927	.;IL3RB_HUMAN	S	298;298;304;304;218;245	ENSP00000384053:G298S;ENSP00000262825:G304S;ENSP00000385271:G304S;ENSP00000393585:G218S;ENSP00000440003:G245S	ENSP00000262825:G304S	G	+	1	0	CSF2RB	35656698	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.730000	0.00381	-5.588000	0.00012	-1.697000	0.00723	GGC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37326752	G	A	37326752	3	1	114	1	0	0	0	0	1	0	0	0	3935	1116	39	2	918	2	CSF2RB	22	37326752	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	16868561	37326752	13977814	65	7771											
KLHL4	56062	broad.mit.edu	37	chrX	86887278	86887278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattggcaccatgaatggcCgtaggcttcaatttggagtc	10	12	11	8	1	1	1	1	1	0	0	2	2	1	2	2	4	0	3	2	4	4	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:86887278C>A	ENST00000373119.4	+	7	1538	c.1393C>A	c.(1393-1395)Cgt>Agt	p.R465S	KLHL4_ENST00000373114.4_Missense_Mutation_p.R465S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	465						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATGAATGGCCGTAGGCTTCA	0.393																																						uc004efa.2																			0		p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1393-1395)Cgt>Agt		Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.							105	88	94					X																	86887278		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887278C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1393C>A	X.37:g.86887278C>A	ENSP00000362211:p.Arg465Ser					KLHL4_uc004efb.2_Missense_Mutation_p.R465S	p.R465S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN			6	1575	+			465					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1393C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675090	0.67928	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66280	-0.2;-0.2	5.32	4.45	0.53987	Galactose oxidase, beta-propeller (1);	0.059533	0.64402	D	0.000005	T	0.73079	0.3541	L	0.53249	1.67	0.58432	D	0.999996	D;D	0.76494	0.995;0.999	D;D	0.72075	0.961;0.976	T	0.74284	-0.3715	10	0.66056	D	0.02	.	11.9535	0.52968	0.4392:0.5608:0.0:0.0	.	465;465	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	S	465	ENSP00000362211:R465S;ENSP00000362206:R465S	ENSP00000362206:R465S	R	+	1	0	KLHL4	86773934	0.988000	0.35896	0.729000	0.30791	0.971000	0.66376	2.819000	0.48049	0.987000	0.38709	0.506000	0.49869	CGT		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			A	86887278	C	A	86887278	3	1	114	1	0	0	0	0	1	0	0	0	8391	652	23	5	1419	5	KLHL4	23	86887278	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		86887278	68383282	66	7772											
MAGEC2	51438	broad.mit.edu	37	chrX	141291741	141291741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggagtcgttgtcaacGttgcggaatggaacgcctgg	7	9	17	8	5	1	0	1	0	0	0	3	3	1	3	1	5	3	2	1	5	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:141291741G>T	ENST00000247452.3	-	3	380	c.33C>A	c.(31-33)aaC>aaA	p.N11K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	11					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.N11K(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGTCAACGTTGCGGAATG	0.537										HNSCC(46;0.14)																												uc022cfj.1																			1	Substitution - Missense(1)	p.N11K(2)	prostate(1)	NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(31-33)aaC>aaA		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							120	110	113					X																	141291741		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291741G>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.33C>A	X.37:g.141291741G>T	ENSP00000354660:p.Asn11Lys	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.N11K	p.N11K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	33	-	Acute lymphoblastic leukemia(192;6.56e-05)		11					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.33C>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	10.94	1.492254	0.26774	.	.	ENSG00000046774	ENST00000247452	T	0.02032	4.49	0.896	-1.79	0.07932	.	1.656910	0.03992	N	0.295095	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	P	0.41498	0.752	B	0.27380	0.079	T	0.43065	-0.9414	9	0.02654	T	1	.	.	.	.	.	11	Q9UBF1	MAGC2_HUMAN	K	11	ENSP00000354660:N11K	ENSP00000354660:N11K	N	-	3	2	MAGEC2	141119407	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-0.985000	0.03503	-0.487000	0.04747	AAC		0.537	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		T	141291741	G	T	141291741	3	4	114	1	0	0	0	0	1	0	0	0	9181	1136	40	5	1092	5	MAGEC2	23	141291741	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	54404463	141291741	13978819	67	7773											
CD99L2	83692	broad.mit.edu	37	chrX	149963729	149963729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatctcgatcatttcgaTcatccagggcatcagccaag	11	10	7	13	2	5	0	4	0	1	0	8	2	6	0	2	1	1	1	2	1	1	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:149963729T>C	ENST00000370377.3	-	6	497	c.380A>G	c.(379-381)gAt>gGt	p.D127G	CD99L2_ENST00000355149.3_Missense_Mutation_p.D55G|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000466436.1_Missense_Mutation_p.D78G|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	127					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTCGATCATCCAGGGC	0.448																																						uc004fek.3																			0		p.R131Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(391-393)gAt>gGt		Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.							151	151	151					X																	149963729		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963729T>C	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.380A>G	X.37:g.149963729T>C	ENSP00000359403:p.Asp127Gly					CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.D127G|CD99L2_uc004fem.3_Missense_Mutation_p.D78G|CD99L2_uc004fen.3_Missense_Mutation_p.D55G	p.D131G	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN			5	620	-	Acute lymphoblastic leukemia(192;6.56e-05)		127					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.392A>G	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145438	0.37825	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	3.67	3.67	0.42095	.	0.210350	0.40818	N	0.001012	T	0.26412	0.0645	N	0.26130	0.795	0.80722	D	1	B;D;B	0.71674	0.002;0.998;0.004	B;D;B	0.63488	0.006;0.915;0.019	T	0.01630	-1.1308	9	.	.	.	-15.771	9.6118	0.39668	0.0:0.0:0.0:1.0	.	55;78;127	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	G	127;131;55;78;90	ENSP00000359403:D127G;ENSP00000347275:D55G;ENSP00000417697:D78G;ENSP00000391821:D90G	.	D	-	2	0	CD99L2	149714387	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	3.384000	0.52478	1.674000	0.50907	0.417000	0.27973	GAT		0.448	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		C	149963729	T	C	149963729	3	2	114	1	0	0	0	0	1	0	0	0	3051	1435	50	4	432	4	CD99L2	23	149963729	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08	8671988	149963729	5306831	68	7774											
PADI6	353238	broad.mit.edu	37	chr1	17699701	17699701	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtgaagatgacatcGcccagcccttccgtggatgc	9	7	11	14	2	0	3	0	2	0	1	2	4	1	4	4	1	2	0	4	1	1	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:17699701G>A	ENST00000434762.2	+	0	317							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGATGACATCGCCCAGCCCTT	0.602																																						uc001bak.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29						c.(265-267)tcG>tcA		Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	L-Citrulline(DB00155)						54	56	55					1																	17699701		2154	4263	6417			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17699701G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699701G>A							p.S89S	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	267	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	81					Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37	c.267G>A																																																																																					0.602	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		A	17699701	G	A	17699701	1	1	115	0	1	0	0	0	0	0	0	0	11381	1074	38	1		1	PADI6	1	17699701	RNA	SNP	G	TCGA-12-0688-01A-02D-1492-08		17699701	231550920	1	7775											
NOTCH2	4853	broad.mit.edu	37	chr1	120539904	120539904	+	Frame_Shift_Del	DEL	C	C	-																															ccacagtggtacaggtacttCcatttgcacagggatgagac																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:120539904delC	ENST00000256646.2	-	4	686	c.467delG	c.(466-468)ggafs	p.G156fs	NOTCH2_ENST00000602566.1_Frame_Shift_Del_p.G117fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	156	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGTACTTCCATTTGCACA	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(466-468)ggafs		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							116	92	100					1																	120539904		2201	4299	6500	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539904delC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.467delG	1.37:g.120539904delC	ENSP00000256646:p.Gly156fs					NOTCH2_uc001eil.3_Frame_Shift_Del_p.G156fs|NOTCH2_uc021osy.1_Frame_Shift_Del_p.G117fs|NOTCH2_uc001eim.4_Frame_Shift_Del_p.G73fs	p.G156fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	764	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	156			EGF-like 4.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.467delG	CCDS908.1																																																																																				0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		-	120539904	C	-	120539904	7	5	115	1	0	1	0	1	0	0	0	0	10548	855	30	0	7072	0	NOTCH2	1	120539904	Frame_Shift_Del	DEL	C	TCGA-12-0688-01A-02D-1492-08	102840203	120539904	128710717	2	7776											
HRNR	388697	broad.mit.edu	37	chr1	152193158	152193158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggctggaggagtgccccGaaccggacccatgtcggacg	7	5	16	13	5	0	0	0	0	0	0	1	5	0	4	4	5	2	1	4	5	1	0	rs201797889		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152193158G>A	ENST00000368801.2	-	3	1022	c.947C>T	c.(946-948)tCg>tTg	p.S316L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	316					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.607																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(946-948)tCg>tTg		Homo sapiens hornerin (HRNR), mRNA.		G	LEU/SER	0,4406		0,0,2203	82	92	89		947	-0.9	0	1		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HRNR	NM_001009931.1	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	316/2851	152193158	2,13004	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193158G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.947C>T	1.37:g.152193158G>A	ENSP00000357791:p.Ser316Leu						p.S316L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1023	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		316					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.947C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095297	0.20471	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.01804	4.63	4.04	-0.89	0.10577	.	.	.	.	.	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	P	0.37864	0.61	B	0.21917	0.037	T	0.42275	-0.9461	9	0.27082	T	0.32	.	4.0184	0.09654	0.2066:0.0:0.4864:0.307	.	316	Q86YZ3	HORN_HUMAN	L	316	ENSP00000357791:S316L	ENSP00000357791:S316L	S	-	2	0	HRNR	150459782	0.056000	0.20664	0.000000	0.03702	0.001000	0.01503	0.903000	0.28475	-0.381000	0.07882	0.644000	0.83932	TCG		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152193158	G	A	152193158	3	1	115	1	0	0	0	0	1	0	0	0	7359	1059	37	2	7609	2	HRNR	1	152193158	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	31653254	152193158	97057463	3	7777											
IVL	3713	broad.mit.edu	37	chr1	152883944	152883944	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccaagacattcaaccAgccctgcccacaaagggaga	14	4	9	14	0	1	2	1	0	0	2	2	3	2	2	4	2	3	0	4	2	3	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152883944A>C	ENST00000368764.3	+	2	1735	c.1671A>C	c.(1669-1671)ccA>ccC	p.P557P	IVL_ENST00000392667.2_Silent_p.P411P			P07476	INVO_HUMAN	involucrin	557					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATTCAACCAGCCCTGCCCA	0.587																																						uc021ozl.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1669-1671)ccA>ccC		Homo sapiens involucrin (IVL), mRNA.							66	67	67					1																	152883944		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883944A>C	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1671A>C	1.37:g.152883944A>C						IVL_uc001fau.3_Silent_p.P557P	p.P557P	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	1671	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		557					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.1671A>C	CCDS1030.1																																																																																				0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		C	152883944	A	C	152883944	2	2	115	1	0	0	0	0	0	0	0	1	7929	175	7	5		5	IVL	1	152883944	Silent	SNP	A	TCGA-12-0688-01A-02D-1492-08	690786	152883944	96366677	4	7778											
OR2T3	343173	broad.mit.edu	37	chr1	248636836	248636836	+	Frame_Shift_Del	DEL	C	C	-																															ctcagagccccgcctccacaCccccatgtacttcttcatca																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248636836delC	ENST00000359594.2	+	1	210	c.185delC	c.(184-186)accfs	p.T62fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCCTCCACACCCCCATGTAC	0.567																																						uc001iel.1																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(184-186)accfs		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.							11	8	9					1																	248636836		2113	3933	6046	SO:0001589	frameshift_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636836delC		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.185delC	1.37:g.248636836delC	ENSP00000352604:p.Thr62fs						p.T62fs	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	185	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		62					B2RNJ1	Frame_Shift_Del	DEL	ENST00000359594.2	37	c.185delC	CCDS31117.1																																																																																				0.567	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		-	248636836	C	-	248636836	7	5	115	1	0	1	0	1	0	0	0	0	11023	507	18	0	187	0	OR2T3	1	248636836	Frame_Shift_Del	DEL	C	TCGA-12-0688-01A-02D-1492-08	95752892	248636836	613785	5	7779											
OR2T34	127068	broad.mit.edu	37	chr1	248737870	248737870	+	Frame_Shift_Del	DEL	G	G	-																															tggctgatgaagaagtacatGggggtgtggaggcggggctc																								rs546063301	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248737870delG	ENST00000328782.2	-	1	210	c.189delC	c.(187-189)cccfs	p.P63fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGTACATGGGGGTGTGGA	0.562																																						uc001iep.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(187-189)cccfs		Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.							17	19	19					1																	248737870		2091	4233	6324	SO:0001589	frameshift_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737870delG	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.189delC	1.37:g.248737870delG	ENSP00000330904:p.Pro63fs						p.P63fs	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	189	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		63					B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Del	DEL	ENST00000328782.2	37	c.189delC	CCDS31120.1																																																																																				0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		-	248737870	G	-	248737870	7	5	115	1	0	1	0	1	0	0	0	0	11025	1335	47	0	771	0	OR2T34	1	248737870	Frame_Shift_Del	DEL	G	TCGA-12-0688-01A-02D-1492-08	101034	248737870	512751	6	7780											
OR14I1	401994	broad.mit.edu	37	chr1	248845184	248845184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtggtgactgccatcTgatagcaccctcctgatgtc	7	10	11	13	0	1	3	0	3	1	0	3	3	2	3	4	2	2	1	4	2	1	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248845184T>C	ENST00000342623.3	-	1	445	c.422A>G	c.(421-423)cAg>cGg	p.Q141R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACTGCCATCTGATAGCACCC	0.542																																						uc001ieu.1																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(421-423)cAg>cGg		Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.							91	78	82					1																	248845184		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845184T>C		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.422A>G	1.37:g.248845184T>C	ENSP00000339726:p.Gln141Arg						p.Q141R	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			0	422	-			141						Missense_Mutation	SNP	ENST00000342623.3	37	c.422A>G	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	5.619	0.298963	0.10622	.	.	ENSG00000189181	ENST00000342623	T	0.00366	7.79	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.605046	0.14091	N	0.341965	T	0.00300	0.0009	L	0.44542	1.39	0.09310	N	1	B	0.20459	0.045	B	0.27715	0.082	T	0.30297	-0.9983	10	0.21014	T	0.42	.	9.9336	0.41537	0.0:0.0:0.0:1.0	.	141	A6ND48	O14I1_HUMAN	R	141	ENSP00000339726:Q141R	ENSP00000339726:Q141R	Q	-	2	0	OR14I1	246911807	0.008000	0.16893	0.013000	0.15412	0.031000	0.12232	-0.019000	0.12546	1.418000	0.47098	0.438000	0.28831	CAG		0.542	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		C	248845184	T	C	248845184	3	2	115	1	0	0	0	0	1	0	0	0	10947	1580	55	4	517	4	OR14I1	1	248845184	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	107314	248845184	405437	7	7781											
VRK2	7444	broad.mit.edu	37	chr2	58373508	58373508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcacacaataggttaatcGaaaaaaaagtccacagtgag	19	6	9	7	1	0	1	0	1	0	0	2	2	1	1	1	2	0	2	1	2	7	2	rs139700760		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr2:58373508G>A	ENST00000435505.2	+	15	1826	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	VRK2_ENST00000417641.2_Missense_Mutation_p.E361K|VRK2_ENST00000340157.4_Missense_Mutation_p.E361K|VRK2_ENST00000412104.2_Missense_Mutation_p.E361K|VRK2_ENST00000440705.2_Missense_Mutation_p.E338K			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	361					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TAGGTTAATCGAAAAAAAAGT	0.383																																						uc002rzo.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(1081-1083)Gaa>Aaa		Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	143	149	147		1081,1081,1012,1081,1081	2.8	0	2	dbSNP_134	147	2,8598		0,2,4298	no	missense,missense,missense,missense,missense	VRK2	NM_001130480.2,NM_001130481.2,NM_001130482.2,NM_001130483.2,NM_006296.5	56,56,56,56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	361/509,361/509,338/486,361/397,361/509	58373508	2,13004	2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58373508G>A	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1081G>A	2.37:g.58373508G>A	ENSP00000408002:p.Glu361Lys					VRK2_uc010fcb.2_Missense_Mutation_p.E361K|VRK2_uc002rzt.3_Missense_Mutation_p.E243K|VRK2_uc002rzs.3_Missense_Mutation_p.E361K|VRK2_uc002rzv.3_Missense_Mutation_p.E361K|VRK2_uc010fcd.3_Missense_Mutation_p.E338K|VRK2_uc002rzu.3_Missense_Mutation_p.E361K|VRK2_uc010fcc.3_Missense_Mutation_p.E243K|VRK2_uc002rzp.3_Missense_Mutation_p.E361K|VRK2_uc010ypg.2_Missense_Mutation_p.E361K	p.E361K	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			14	1826	+			361					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.1081G>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982014	0.18812	0.0	2.33E-4	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.05319	3.46;3.65;3.65;3.46;3.46	5.61	2.8	0.32819	.	1.231270	0.05680	N	0.590236	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.04013	0.001;0.001;0.001	T	0.47071	-0.9145	10	0.11182	T	0.66	-1.7494	6.7526	0.23495	0.1606:0.1435:0.6958:0.0	.	361;361;361	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	K	361;361;361;361;361;338	ENSP00000408002:E361K;ENSP00000402375:E361K;ENSP00000404156:E361K;ENSP00000342381:E361K;ENSP00000398323:E338K	ENSP00000342381:E361K	E	+	1	0	VRK2	58227012	0.014000	0.17966	0.000000	0.03702	0.016000	0.09150	2.274000	0.43390	0.426000	0.26116	-0.205000	0.12727	GAA		0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		A	58373508	G	A	58373508	3	1	115	1	0	0	0	0	1	0	0	0	17217	1059	37	2	1123	2	VRK2	2	58373508	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		58373508	184825865	8	7782											
CBLB	868	broad.mit.edu	37	chr3	105400636	105400636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaccatgtgttccattcAgcatacagtgaccattatca	12	12	7	10	0	2	1	2	1	0	0	3	2	3	2	3	1	2	2	3	1	2	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:105400636A>G	ENST00000264122.4	-	15	2549	c.2228T>C	c.(2227-2229)cTg>cCg	p.L743P	CBLB_ENST00000394027.3_Missense_Mutation_p.L765P|CBLB_ENST00000403724.1_Missense_Mutation_p.L743P|CBLB_ENST00000405772.1_Missense_Mutation_p.L743P|CBLB_ENST00000407712.1_Missense_Mutation_p.L2P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	743	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCCATTCAGCATACAGTG	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.3				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(2227-2229)cTg>cCg		Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.							83	84	84					3																	105400636		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105400636A>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2228T>C	3.37:g.105400636A>G	ENSP00000264122:p.Leu743Pro					CBLB_uc003dwa.3_Missense_Mutation_p.L2P|CBLB_uc011bhi.2_Missense_Mutation_p.L765P|CBLB_uc003dwd.2_Missense_Mutation_p.L743P|CBLB_uc003dwe.2_Missense_Mutation_p.L743P	p.L743P	NM_170662	NP_733762	Q13191	CBLB_HUMAN			14	2550	-			743			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2228T>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857944	0.32791	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027;ENST00000403724;ENST00000405772	T;D;T;D;D;D	0.84730	-1.24;-1.87;-1.34;-1.89;-1.86;-1.89	5.96	4.82	0.62117	.	0.473553	0.21933	N	0.066990	T	0.72503	0.3468	N	0.22421	0.69	0.80722	D	1	B;P;B;B	0.35656	0.38;0.514;0.412;0.214	B;B;B;B	0.31686	0.102;0.134;0.062;0.102	T	0.74515	-0.3640	10	0.87932	D	0	-9.6427	7.0993	0.25327	0.7954:0.0:0.2046:0.0	.	765;743;743;765	E7ENW2;Q13191-3;Q13191;B4DYP3	.;.;CBLB_HUMAN;.	P	126;743;2;765;743;743	ENSP00000377598:L126P;ENSP00000264122:L743P;ENSP00000384170:L2P;ENSP00000377595:L765P;ENSP00000384816:L743P;ENSP00000384938:L743P	ENSP00000264122:L743P	L	-	2	0	CBLB	106883326	0.085000	0.21516	0.943000	0.38184	0.937000	0.57800	1.832000	0.39151	2.274000	0.75844	0.477000	0.44152	CTG		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		G	105400636	A	G	105400636	3	3	115	1	0	0	0	0	1	0	0	0	2701	188	7	4	740	4	CBLB	3	105400636	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		105400636	92621794	9	7783											
PHLDB2	90102	broad.mit.edu	37	chr3	111632481	111632481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagtgacctcacccggactCctccaccaccatcctccacc	8	7	4	22	1	2	1	2	1	0	0	6	2	6	2	9	1	0	0	9	1	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:111632481C>T	ENST00000431670.2	+	3	2062	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	PHLDB2_ENST00000481953.1_Missense_Mutation_p.P551S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P551S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.P137S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P551S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P551S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P578S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	551						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CACCCGGACTCCTCCACCACC	0.512																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1651-1653)Cct>Tct		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							162	173	169					3																	111632481		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632481C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1651C>T	3.37:g.111632481C>T	ENSP00000405405:p.Pro551Ser					PHLDB2_uc003dyc.3_Missense_Mutation_p.P578S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyi.3_Missense_Mutation_p.P137S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P551S	p.P551S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			2	2062	+			551					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1651C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	2.283	-0.364178	0.05103	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.32988	1.43;1.5;1.44;1.44;1.5;1.44;1.47	5.48	4.54	0.55810	.	0.595857	0.18227	N	0.147684	T	0.22126	0.0533	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.16802	0.0;0.0;0.019;0.0;0.005	B;B;B;B;B	0.15484	0.001;0.001;0.013;0.003;0.004	T	0.21484	-1.0244	10	0.18276	T	0.48	.	7.5091	0.27562	0.0:0.7857:0.0:0.2143	.	137;551;551;551;578	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	S	578;578;551;551;551;551;551;551;137	ENSP00000377500:P578S;ENSP00000405405:P551S;ENSP00000405292:P551S;ENSP00000418296:P551S;ENSP00000377502:P551S;ENSP00000418319:P551S;ENSP00000420303:P137S	ENSP00000352764:P578S	P	+	1	0	PHLDB2	113115171	0.002000	0.14202	0.014000	0.15608	0.116000	0.19942	0.129000	0.15830	1.164000	0.42652	0.555000	0.69702	CCT		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		T	111632481	C	T	111632481	3	4	115	1	0	0	0	0	1	0	0	0	11852	855	30	3	1742	3	PHLDB2	3	111632481	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	6231845	111632481	86389949	10	7784											
CCDC48	79825	broad.mit.edu	37	chr3	128757682	128757682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctttttaagaacatatcGaaaagagccctggggaagat	14	12	9	6	1	1	3	0	0	1	3	2	5	1	4	1	2	2	0	1	2	6	5	rs575259155		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:128757682G>A	ENST00000480450.1	+	7	1599	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	EFCC1_ENST00000436022.2_Silent_p.S96S			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	533							calcium ion binding (GO:0005509)										AGAACATATCGAAAAGAGCCC	0.552													G|||	1	0.000199681	0	0	5008	,	,		17028	0.001		0	False		,,,				2504	0					uc011bkt.2																			0				breast(1)|kidney(2)|lung(2)|skin(1)	6						c.(1597-1599)tcG>tcA		Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.							91	101	97					3																	128757682		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757682G>A	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1599G>A	3.37:g.128757682G>A							p.S533S	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			6	1599	+			533					A8MYE2	Silent	SNP	ENST00000480450.1	37	c.1599G>A	CCDS3054.2																																																																																				0.552	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		A	128757682	G	A	128757682	2	1	115	1	0	0	0	0	0	0	0	1	2819	1045	37	2		2	CCDC48	3	128757682	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	17125201	128757682	69264748	11	7785											
LRRC33	375387	broad.mit.edu	37	chr3	196388089	196388089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacatgggcctccactcCagctttatggcgttggactt	8	11	11	11	1	0	0	0	0	0	0	2	2	2	2	3	4	2	2	3	4	2	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:196388089C>T	ENST00000328557.4	+	3	1778	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	525					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GCCTCCACTCCAGCTTTATGG	0.567																																						uc003fwv.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40						c.(1573-1575)tcC>tcT		Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.							123	121	122					3																	196388089		2203	4300	6503	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196388089C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1575C>T	3.37:g.196388089C>T							p.S525S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	2	1679	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		525						Silent	SNP	ENST00000328557.4	37	c.1575C>T	CCDS3319.1																																																																																				0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		T	196388089	C	T	196388089	2	4	115	1	0	0	0	0	0	0	0	1	8988	581	21	3		3	LRRC33	3	196388089	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	67630407	196388089	1634341	12	7786											
FGFBP2	83888	broad.mit.edu	37	chr4	15964315	15964315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgggcctcagagatggcgtCccagcctcaggctgctggtt	5	10	14	12	1	2	1	2	0	0	1	3	2	3	1	3	4	2	3	3	4	0	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:15964315C>T	ENST00000259989.6	-	1	544	c.438G>A	c.(436-438)ggG>ggA	p.G146G	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	146						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGATGGCGTCCCAGCCTCAG	0.617																																						uc003gon.3																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(436-438)ggG>ggA		Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.							91	84	86					4																	15964315		2203	4300	6503	SO:0001819	synonymous_variant	83888					extracellular space	growth factor binding	g.chr4:15964315C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.438G>A	4.37:g.15964315C>T						FGFBP2_uc021xmm.1_Silent_p.G146G	p.G146G	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN			0	545	-			146						Silent	SNP	ENST00000259989.6	37	c.438G>A	CCDS3419.1																																																																																				0.617	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		T	15964315	C	T	15964315	2	4	115	1	0	0	0	0	0	0	0	1	5861	842	30	3		3	FGFBP2	4	15964315	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		15964315	175189961	13	7787											
STAP1	26228	broad.mit.edu	37	chr4	68449405	68449405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaaactactccatcactaTtcggcaggagatagagtatg	14	10	9	8	1	1	3	1	0	0	3	3	4	2	3	1	2	2	2	1	2	6	6			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:68449405T>C	ENST00000265404.2	+	6	726	c.644T>C	c.(643-645)aTt>aCt	p.I215T	STAP1_ENST00000396225.1_Missense_Mutation_p.I215T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	215	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCCATCACTATTCGGCAGGAG	0.408																																						uc003hde.4																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(643-645)aTt>aCt		Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.							63	62	62					4																	68449405		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68449405T>C	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.644T>C	4.37:g.68449405T>C	ENSP00000265404:p.Ile215Thr					STAP1_uc003hdf.3_Missense_Mutation_p.I215T	p.I215T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			5	726	+			215			SH2.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.644T>C	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241761	0.22711	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.88741	-2.42;-2.42	5.73	5.73	0.89815	SH2 motif (4);	0.114234	0.64402	D	0.000017	D	0.86372	0.5917	N	0.17082	0.46	0.45427	D	0.998404	D	0.64830	0.994	D	0.64595	0.927	T	0.82307	-0.0522	10	0.05833	T	0.94	-9.1558	12.4071	0.55445	0.0:0.0:0.0:1.0	.	215	Q9ULZ2	STAP1_HUMAN	T	215	ENSP00000265404:I215T;ENSP00000379527:I215T	ENSP00000265404:I215T	I	+	2	0	STAP1	68132000	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	4.462000	0.60121	2.180000	0.69256	0.533000	0.62120	ATT		0.408	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		C	68449405	T	C	68449405	3	2	115	1	0	0	0	0	1	0	0	0	15251	1493	52	4	666	4	STAP1	4	68449405	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	52485090	68449405	122704871	14	7788											
PDHA2	5161	broad.mit.edu	37	chr4	96761326	96761326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgccttcatctcccgcGtgttgaggcgagttgcccag	4	10	13	14	4	2	1	1	1	1	0	3	2	2	1	4	2	1	2	4	2	0	3	rs550119402		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:96761326G>A	ENST00000295266.4	+	1	88	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	9					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CATCTCCCGCGTGTTGAGGCG	0.557													G|||	1	0.000199681	0	0	5008	,	,		19720	0		0	False		,,,				2504	0.001					uc003htr.4																			0		p.R8R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(25-27)Gtg>Atg		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						46	45	45					4																	96761326		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761326G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.25G>A	4.37:g.96761326G>A	ENSP00000295266:p.Val9Met						p.V9M	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	88	+		Hepatocellular(203;0.114)	9					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.25G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877214	0.33162	.	.	ENSG00000163114	ENST00000295266	D	0.97710	-4.5	4.17	3.32	0.38043	.	0.205323	0.41194	D	0.000924	D	0.95787	0.8629	M	0.65320	2	0.20307	N	0.999919	B	0.26876	0.162	B	0.29267	0.1	D	0.90986	0.4831	10	0.42905	T	0.14	-5.7102	10.0747	0.42353	0.0:0.204:0.796:0.0	.	9	P29803	ODPAT_HUMAN	M	9	ENSP00000295266:V9M	ENSP00000295266:V9M	V	+	1	0	PDHA2	96980349	0.641000	0.27251	0.235000	0.24058	0.041000	0.13682	0.753000	0.26376	1.320000	0.45209	0.467000	0.42956	GTG		0.557	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			A	96761326	G	A	96761326	3	1	115	1	0	0	0	0	1	0	0	0	11665	1145	40	1	27	1	PDHA2	4	96761326	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	28311921	96761326	94392950	15	7789											
EGF	1950	broad.mit.edu	37	chr4	110908980	110908980	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatgccacatgtcagtgtTtgaaaggatttgctggggat	10	12	14	5	0	1	1	1	1	0	0	1	4	1	4	1	4	2	2	1	4	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:110908980T>C	ENST00000265171.5	+	17	3017	c.2572T>C	c.(2572-2574)Ttg>Ctg	p.L858L	EGF_ENST00000509793.1_Silent_p.L816L|EGF_ENST00000503392.1_Silent_p.L858L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	858	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGTCAGTGTTTGAAAGGATT	0.423																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2572-2574)Ttg>Ctg		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						164	149	154					4																	110908980		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110908980T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2572T>C	4.37:g.110908980T>C						EGF_uc011cfu.2_Silent_p.L816L|EGF_uc011cfv.2_Silent_p.L858L|EGF_uc010imk.3_Intron	p.L858L	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	16	3024	+		Hepatocellular(203;0.0893)	858			EGF-like 6.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2572T>C	CCDS3689.1																																																																																				0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			C	110908980	T	C	110908980	2	2	115	1	0	0	0	0	0	0	0	1	4962	1838	64	4		4	EGF	4	110908980	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08	14147654	110908980	80245296	16	7790											
SLC6A19	340024	broad.mit.edu	37	chr5	1217004	1217004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaacgcctccgaccccGcggcctacgcgcagctggtg	5	5	14	17	6	0	0	0	0	0	0	1	1	1	0	5	3	4	3	5	3	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:1217004G>A	ENST00000304460.10	+	8	1173	c.1117G>A	c.(1117-1119)Gcg>Acg	p.A373T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCCGACCCCGCGGCCTACGC	0.622																																						uc003jbw.4																			0		p.P372P(1)|p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1117-1119)Gcg>Acg		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							159	150	153					5																	1217004		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1217004G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1117G>A	5.37:g.1217004G>A	ENSP00000305302:p.Ala373Thr						p.A373T	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	1173	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		373					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1117G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	g	9.005	0.980984	0.18812	.	.	ENSG00000174358	ENST00000304460	T	0.74002	-0.8	4.85	-1.39	0.08997	.	1.876320	0.02993	N	0.147070	T	0.57125	0.2032	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.32241	-0.9914	10	0.15952	T	0.53	.	5.7985	0.18399	0.3593:0.1242:0.5164:0.0	.	373	Q695T7	S6A19_HUMAN	T	373	ENSP00000305302:A373T	ENSP00000305302:A373T	A	+	1	0	SLC6A19	1270004	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.209000	0.17435	-0.747000	0.04759	-1.667000	0.00748	GCG		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		A	1217004	G	A	1217004	3	1	115	1	0	0	0	0	1	0	0	0	14682	1087	38	1	1147	1	SLC6A19	5	1217004	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		1217004	179698256	17	7791											
PIK3R1	5295	broad.mit.edu	37	chr5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagtatcgagaaattgAcaaacgtatgaacagcatta	17	9	9	6	2	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	6	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:67591086A>G	ENST00000521381.1	+	13	2295	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_ENST00000320694.8_Missense_Mutation_p.D260G|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D560G|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D197G|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D290G	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	560					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D560_S565del(1)|p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	p.D560_S565del(2)|p.R557_K561>Q(2)|p.0?(1)|p.?(1)|p.D560H(1)|p.R557_D560del(1)|p.I559V(1)|p.D560Y(1)	large_intestine(1)|lung(1)|central_nervous_system(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1678-1680)gAc>gGc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						141	140	141					5																	67591086		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591086A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1679A>G	5.37:g.67591086A>G	ENSP00000428056:p.Asp560Gly	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290G|PIK3R1_uc003jve.3_Missense_Mutation_p.D239G|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197G|PIK3R1_uc011crb.2_Missense_Mutation_p.D230G	p.D560G	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2259	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	560					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1679A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725189	0.89298	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.84683	2.71	0.80722	D	1	D;P;P;D	0.64830	0.982;0.836;0.836;0.994	P;P;P;P	0.60949	0.801;0.783;0.676;0.881	T	0.66701	-0.5857	10	0.52906	T	0.07	-30.0341	15.2043	0.73165	1.0:0.0:0.0:0.0	.	230;290;260;560	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	G	560;560;560;560;260;290;197	ENSP00000428056:D560G;ENSP00000429277:D560G;ENSP00000379855:D560G;ENSP00000274335:D560G;ENSP00000323512:D260G;ENSP00000338554:D290G;ENSP00000430098:D197G	ENSP00000274335:D560G	D	+	2	0	PIK3R1	67626842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.087000	0.94110	2.238000	0.73509	0.477000	0.44152	GAC		0.358	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		G	67591086	A	G	67591086	3	3	115	1	0	0	0	0	1	0	0	0	11918	275	10	4	1855	4	PIK3R1	5	67591086	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	66374082	67591086	113324174	18	7792											
GRIA1	2890	broad.mit.edu	37	chr5	153065877	153065877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattgaaatgaaacatgaCggcatccgaaaggtaaggtc	15	8	12	6	2	0	4	0	4	0	0	2	5	1	4	1	3	1	2	1	3	4	2	rs140876127		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:153065877C>T	ENST00000285900.5	+	8	1465	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	GRIA1_ENST00000521843.2_Silent_p.D305D|GRIA1_ENST00000518142.1_Silent_p.D294D|GRIA1_ENST00000340592.5_Silent_p.D374D|GRIA1_ENST00000518783.1_Silent_p.D384D|GRIA1_ENST00000448073.4_Silent_p.D384D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	374					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.D374D(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGAAACATGACGGCATCCGAA	0.502													C|||	1	0.000199681	0	0	5008	,	,		17294	0.001		0	False		,,,				2504	0					uc011dcy.2																			2	Substitution - coding silent(2)	p.D374D(2)	large_intestine(2)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1150-1152)gaC>gaT		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	C	,	0,4406		0,0,2203	116	104	108		1122,1122	-10.5	0.8	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	374/907,374/907	153065877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153065877C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1122C>T	5.37:g.153065877C>T						GRIA1_uc003lva.4_Silent_p.D374D|GRIA1_uc003luy.4_Silent_p.D374D|GRIA1_uc003luz.4_Silent_p.D279D|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.D294D|GRIA1_uc011dcx.2_Silent_p.D305D|GRIA1_uc011dcz.2_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D	p.D384D	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1179	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	374					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1152C>T	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153065877	C	T	153065877	2	4	115	1	0	0	0	0	0	0	0	1	6767	535	19	1		1	GRIA1	5	153065877	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	85474791	153065877	27849383	19	7793											
FLT4	2324	broad.mit.edu	37	chr5	180048603	180048603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgccggtcttgcacttcGcacacatagtggccctcgtg	5	10	11	15	4	1	0	0	0	1	0	3	0	1	0	2	2	2	2	2	2	1	3	rs373635248		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:180048603G>A	ENST00000261937.6	-	13	2037	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	FLT4_ENST00000393347.3_Silent_p.C653C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.C653C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	653	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGCACTTCGCACACATAGT	0.697																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1957-1959)tgC>tgT		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)	G	,	1,4403	2.1+/-5.4	0,1,2201	32	30	31		1959,1959	2.3	1	5		31	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	FLT4	NM_002020.4,NM_182925.4	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	653/1299,653/1364	180048603	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048603G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1959C>T	5.37:g.180048603G>A						FLT4_uc003mma.4_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.2_Silent_p.C653C	p.C653C	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	2038	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	653			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1959C>T	CCDS4457.1																																																																																				0.697	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180048603	G	A	180048603	2	1	115	1	0	0	0	0	0	0	0	1	5944	1079	38	1		1	FLT4	5	180048603	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	26982726	180048603	866657	20	7794											
IRF4	3662	broad.mit.edu	37	chr6	397159	397159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaagctggagggactacGtcccggatcagccacacccg	10	4	12	15	4	1	0	1	0	0	0	2	4	2	3	4	3	3	1	4	3	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:397159G>A	ENST00000380956.4	+	5	670	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGACTACGTCCCGGATCA	0.567			T	IGH@	MM																																	uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(544-546)Gtc>Atc		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.							112	115	114					6																	397159		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397159G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.544G>A	6.37:g.397159G>A	ENSP00000370343:p.Val182Ile					IRF4_uc010jne.2_Missense_Mutation_p.V182I|IRF4_uc003mtb.4_Missense_Mutation_p.V181I|IRF4_uc021ykl.1_Missense_Mutation_p.V28I|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.V12I	p.V182I	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	4	670	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.544G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657008	0.14580	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96992	-4.2	5.52	4.65	0.58169	.	0.639061	0.15347	N	0.267148	D	0.83229	0.5209	N	0.08118	0	0.23023	N	0.99842	B;B;B;B	0.21309	0.001;0.002;0.049;0.054	B;B;B;B	0.22601	0.001;0.002;0.04;0.018	T	0.70608	-0.4825	10	0.15499	T	0.54	-23.809	14.4781	0.67562	0.0705:0.0:0.9294:0.0	.	182;212;181;182	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	I	182;211	ENSP00000370343:V182I	ENSP00000370343:V182I	V	+	1	0	IRF4	342159	1.000000	0.71417	0.853000	0.33588	0.226000	0.24999	4.876000	0.63079	1.340000	0.45581	0.555000	0.69702	GTC		0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	397159	G	A	397159	3	1	115	1	0	0	0	0	1	0	0	0	7832	1145	40	1	558	1	IRF4	6	397159	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		397159	170717908	21	7795											
OR10C1	442194	broad.mit.edu	37	chr6	29407979	29407979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctatgtacttcttcctgCgcaccctctcggccttggag	4	12	8	17	2	2	0	0	0	2	0	4	1	3	1	5	2	2	2	5	2	2	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:29407979C>T	ENST00000444197.2	+	1	897	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTTCCTGCGCACCCTCTC	0.572																																						uc011dlp.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(187-189)Cgc>Tgc		Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.							187	160	170					6																	29407979		1511	2707	4218	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407979C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.187C>T	6.37:g.29407979C>T	ENSP00000419119:p.Arg63Cys					OR11A1_uc010jrh.1_Intron	p.R63C	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			0	264	+			63					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.187C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571627	0.13623	.	.	ENSG00000206474	ENST00000444197	T	0.01084	5.36	3.6	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.227349	0.22449	U	0.059920	T	0.00412	0.0013	N	0.16602	0.42	0.09310	N	1	D	0.54207	0.965	P	0.46339	0.513	T	0.54912	-0.8222	10	0.48119	T	0.1	.	6.1281	0.20189	0.4538:0.4538:0.0:0.0924	.	63	Q96KK4	O10C1_HUMAN	C	63	ENSP00000419119:R63C	ENSP00000419119:R63C	R	+	1	0	OR10C1	29515958	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.018000	0.01444	0.313000	0.23062	0.430000	0.28490	CGC		0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			T	29407979	C	T	29407979	3	4	115	1	0	0	0	0	1	0	0	0	10898	768	27	1	189	1	OR10C1	6	29407979	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	29010820	29407979	141707088	22	7796											
C6orf126	389383	broad.mit.edu	37	chr6	35747188	35747188	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcttgacgtgcatatcCaaggacttgatgtgttcccg	8	12	12	9	2	0	2	0	2	0	0	2	3	2	3	2	2	1	3	2	2	2	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:35747188C>A	ENST00000403376.3	+	3	264	c.264C>A	c.(262-264)tcC>tcA	p.S88S	CLPSL2_ENST00000481904.1_3'UTR|CLPSL1_ENST00000373861.5_5'Flank|CLPSL1_ENST00000542261.1_5'Flank|CLPSL2_ENST00000360454.2_Missense_Mutation_p.Q115K	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	88					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CGTGCATATCCAAGGACTTGA	0.567																																						uc003olc.1																			0											c.(343-345)Caa>Aaa		Homo sapiens chromosome 6 open reading frame 126 (C6orf126), mRNA.							118	74	89					6																	35747188		2202	4294	6496	SO:0001819	synonymous_variant	389383				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35747188C>A		CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 126"	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.264C>A	6.37:g.35747188C>A						CLPSL2_uc010jvz.1_Silent_p.S88S|CLPSL1_uc003old.4_5'Flank	p.Q115K			Q6UWE3	CF126_HUMAN			3	347	+			0					B0QZ45|Q5T9G3	Silent	SNP	ENST00000403376.3	37	c.343C>A	CCDS4810.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592854	0.28357	.	.	ENSG00000196748	ENST00000360454	.	.	.	4.18	-0.844	0.10741	.	.	.	.	.	T	0.09774	0.0240	.	.	.	0.09310	N	1	P	0.34639	0.461	B	0.33339	0.162	T	0.24083	-1.0170	7	0.87932	D	0	-10.0738	3.2912	0.06949	0.1893:0.3624:0.0:0.4482	.	115	Q6UWE3-2	.	K	115	.	ENSP00000353639:Q115K	Q	+	1	0	C6orf126	35855166	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.743000	0.04845	-0.073000	0.12842	-0.424000	0.05967	CAA		0.567	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280618.2	NM_207409		A	35747188	C	A	35747188	2	1	115	1	0	0	0	0	0	0	0	1	2326	581	21	5		5	C6orf126	6	35747188	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	6339209	35747188	135367879	23	7797											
NFKBIE	4794	broad.mit.edu	37	chr6	44229489	44229489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccacatgaagggctgtgtCaccatgccggtcctgtagtg	7	9	14	11	1	1	1	1	1	0	0	2	1	2	1	4	3	1	2	4	3	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:44229489C>T	ENST00000275015.5	-	3	981	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	328					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGCTGTGTCACCATGCCGG	0.652																																						uc003oxe.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(982-984)Gac>Aac		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.							46	42	43					6																	44229489		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229489C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.982G>A	6.37:g.44229489C>T	ENSP00000275015:p.Asp328Asn						p.D328N	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	1007	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		328					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.982G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793896	0.16327	.	.	ENSG00000146232	ENST00000275015	T	0.61980	0.06	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.174800	0.49305	D	0.000156	T	0.20901	0.0503	N	0.17248	0.465	0.44798	D	0.997807	P	0.38420	0.63	B	0.34873	0.191	T	0.28170	-1.0052	10	0.05525	T	0.97	-9.7333	10.4796	0.44684	0.0:0.8755:0.0:0.1245	.	328	O00221	IKBE_HUMAN	N	328	ENSP00000275015:D328N	ENSP00000275015:D328N	D	-	1	0	NFKBIE	44337467	1.000000	0.71417	0.943000	0.38184	0.483000	0.33249	4.100000	0.57762	2.470000	0.83445	0.655000	0.94253	GAC		0.652	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			T	44229489	C	T	44229489	3	4	115	1	0	0	0	0	1	0	0	0	10380	826	29	3	536	3	NFKBIE	6	44229489	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	8482301	44229489	126885578	24	7798											
FAM83B	222584	broad.mit.edu	37	chr6	54806091	54806091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaaaggggtctcagaaGttaaggtcattacttagcct	13	12	10	6	0	2	2	2	1	1	1	3	2	2	2	1	3	2	1	1	3	6	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:54806091G>A	ENST00000306858.7	+	5	2438	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	774										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGTCTCAGAAGTTAAGGTCAT	0.363																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2320-2322)aaG>aaA		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							53	56	55					6																	54806091		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54806091G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2322G>A	6.37:g.54806091G>A							p.K774K	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	2438	+	Lung NSC(77;0.0178)|Renal(3;0.122)		774					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2322G>A	CCDS34479.1																																																																																				0.363	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		A	54806091	G	A	54806091	2	1	115	1	0	0	0	0	0	0	0	1	5634	1020	36	3		3	FAM83B	6	54806091	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	10576602	54806091	116308976	25	7799											
C6orf186	728464	broad.mit.edu	37	chr6	110567207	110567207	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacttgcattgaaaatgTctttcttcaagaatagctga	13	14	7	7	0	3	3	1	2	2	1	3	3	3	3	0	0	4	3	0	0	6	6			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:110567207T>G	ENST00000338882.4	-	5	1042	c.1043A>C	c.(1042-1044)gAc>gCc	p.D348A	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	348						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										ATTGAAAATGTCTTTCTTCAA	0.373																																						uc010kdu.1																			0											c.(1042-1044)gAc>gCc		Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.							208	181	189					6																	110567207		1568	3582	5150	SO:0001583	missense	728464					extracellular region		g.chr6:110567207T>G		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 186"	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.1043A>C	6.37:g.110567207T>G	ENSP00000344071:p.Asp348Ala					METTL24_uc003pub.2_Missense_Mutation_p.D151A	p.D348A	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN			4	1043	-			348					Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	c.1043A>C	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025644	0.35701	.	.	ENSG00000053328	ENST00000338882	T	0.44482	0.92	5.98	4.79	0.61399	.	0.309409	0.39687	N	0.001287	T	0.13543	0.0328	N	0.22421	0.69	0.36311	D	0.857635	B	0.06786	0.001	B	0.04013	0.001	T	0.05550	-1.0878	10	0.20519	T	0.43	-4.6063	13.254	0.60068	0.0:0.0:0.1326:0.8674	.	348	Q5JXM2	CF186_HUMAN	A	348	ENSP00000344071:D348A	ENSP00000344071:D348A	D	-	2	0	C6orf186	110673900	1.000000	0.71417	0.920000	0.36463	0.991000	0.79684	3.957000	0.56730	1.051000	0.40369	0.528000	0.53228	GAC		0.373	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		G	110567207	T	G	110567207	3	3	115	1	0	0	0	0	1	0	0	0	2347	1667	58	5	61	5	C6orf186	6	110567207	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	55761116	110567207	60547860	26	7800											
LPA	4018	broad.mit.edu	37	chr6	161006177	161006177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtggtggagagtgtgcctCgataactctgtccatcacct	8	12	11	10	1	2	1	1	0	1	1	4	3	3	1	3	2	2	0	3	2	2	2	rs199747804		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:161006177C>T	ENST00000316300.5	-	26	4234	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q	LPA_ENST00000447678.1_Missense_Mutation_p.R1397Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3905	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAGTGTGCCTCGATAACTCTG	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		18782	0		0	False		,,,				2504	0					uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4189-4191)cGa>cAa		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)	C	GLN/ARG	1,4381	2.1+/-5.4	0,1,2190	216	215	215		4190	1.5	0.2	6		215	0,8592		0,0,4296	yes	missense	LPA	NM_005577.2	43	0,1,6486	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	1397/2041	161006177	1,12973	2191	4296	6487	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161006177C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4190G>A	6.37:g.161006177C>T	ENSP00000321334:p.Arg1397Gln						p.R1397Q	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4310	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3905			Kringle 13.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4190G>A	CCDS43523.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	9.726	1.161054	0.21538	2.28E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.69306	-0.39;-0.39	2.41	1.51	0.23008	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.64483	0.2602	M	0.83312	2.635	0.21416	N	0.999699	D	0.53619	0.961	P	0.58172	0.834	T	0.54918	-0.8221	9	0.52906	T	0.07	.	5.0631	0.14568	0.0:0.8161:0.0:0.1839	.	3905	P08519	APOA_HUMAN	Q	1397	ENSP00000321334:R1397Q;ENSP00000395608:R1397Q	ENSP00000321334:R1397Q	R	-	2	0	LPA	160926167	0.996000	0.38824	0.235000	0.24058	0.008000	0.06430	3.056000	0.49923	0.325000	0.23359	-0.436000	0.05848	CGA		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161006177	C	T	161006177	3	4	115	1	0	0	0	0	1	0	0	0	8903	884	31	2	1988	2	LPA	6	161006177	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	50438970	161006177	10108890	27	7801											
C7orf27	221927	broad.mit.edu	37	chr7	2580983	2580983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggctgctcgctggacccGgacgcagcccgccagggtcc	5	4	16	16	4	0	0	0	0	0	0	2	3	1	2	4	4	2	4	4	4	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:2580983G>A	ENST00000340611.4	-	9	1526	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	424					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CGCTGGACCCGGACGCAGCCC	0.682																																						uc003smi.3																			0		p.V423V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1270-1272)Cgg>Tgg		Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.							20	21	20					7																	2580983		2201	4299	6500	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2580983G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1270C>T	7.37:g.2580983G>A	ENSP00000339637:p.Arg424Trp					BRAT1_uc003smh.4_5'UTR	p.R424W	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN			8	1558	-			424					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.1270C>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720274	0.48728	.	.	ENSG00000106009	ENST00000340611	T	0.69561	-0.41	5.18	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.049661	0.85682	D	0.000000	T	0.79028	0.4377	M	0.69823	2.125	0.24417	N	0.99464	D	0.89917	1.0	D	0.87578	0.998	T	0.70160	-0.4948	10	0.87932	D	0	-45.3975	11.8744	0.52539	0.0:0.0:0.7882:0.2118	.	424	Q6PJG6	BRAT1_HUMAN	W	424	ENSP00000339637:R424W	ENSP00000339637:R424W	R	-	1	2	BRAT1	2547509	0.993000	0.37304	0.386000	0.26170	0.392000	0.30506	2.611000	0.46334	2.425000	0.82216	0.462000	0.41574	CGG		0.682	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		A	2580983	G	A	2580983	3	1	115	1	0	0	0	0	1	0	0	0	2382	1115	39	2	1219	2	C7orf27	7	2580983	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		2580983	156557680	28	7802											
SP4	6671	broad.mit.edu	37	chr7	21550871	21550871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcccaatgtttcaaccaAcatggaagaattctgaaaag	17	9	6	9	0	2	2	1	1	1	1	3	3	3	3	2	1	3	1	2	1	8	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:21550871A>G	ENST00000222584.3	+	6	2557	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	780					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTTTCAACCAACATGGAAGAA	0.423																																						uc003sva.3																			0		p.N780N(1)|p.T779N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2338-2340)aAc>aGc		Homo sapiens Sp4 transcription factor (SP4), mRNA.							59	63	62					7																	21550871		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550871A>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2339A>G	7.37:g.21550871A>G	ENSP00000222584:p.Asn780Ser					SP4_uc003svb.3_Missense_Mutation_p.N467S	p.N780S	NM_003112	NP_003103	Q02446	SP4_HUMAN			5	2520	+			780					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2339A>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631234	0.28978	.	.	ENSG00000105866	ENST00000222584	T	0.08896	3.04	5.44	5.44	0.79542	.	0.098116	0.64402	D	0.000003	T	0.04407	0.0121	N	0.08118	0	0.49299	D	0.999771	P	0.46656	0.882	B	0.40534	0.332	T	0.34625	-0.9821	10	0.02654	T	1	.	15.4963	0.75653	1.0:0.0:0.0:0.0	.	780	Q02446	SP4_HUMAN	S	780	ENSP00000222584:N780S	ENSP00000222584:N780S	N	+	2	0	SP4	21517396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.965000	0.70387	2.079000	0.62486	0.482000	0.46254	AAC		0.423	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		G	21550871	A	G	21550871	3	3	115	1	0	0	0	0	1	0	0	0	14966	43	2	4	2361	4	SP4	7	21550871	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	18969888	21550871	137587792	29	7803											
PDE1C	5137	broad.mit.edu	37	chr7	32091191	32091191	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgttttcttatatttccTcctgtaagaaaaggcataaa	13	14	7	7	1	1	1	0	0	1	1	3	2	3	2	2	2	0	3	2	2	7	7			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:32091191T>C	ENST00000396191.1	-	2	558	c.103A>G	c.(103-105)Agg>Ggg	p.R35G	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396184.3_Splice_Site_p.R35G|PDE1C_ENST00000321453.7_Splice_Site_p.R35G|PDE1C_ENST00000396182.2_Splice_Site_p.R35G	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	35					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTATATTTCCTCCTGTAAGAA	0.468																																						uc003tcm.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.e2-1		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.							92	82	85					7																	32091191		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32091191T>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.102-1A>G	7.37:g.32091191T>C						PDE1C_uc003tcn.1_Splice_Site_p.L34_splice|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Splice_Site_p.L34_splice|PDE1C_uc003tcs.3_Splice_Site_p.L34_splice	p.L34_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		2	563	-			34					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.102_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.730096	0.30684	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.73152	-0.72;-0.72;-0.7;-0.7	5.65	5.65	0.86999	.	.	.	.	.	T	0.71273	0.3320	N	0.19112	0.55	0.31338	N	0.683969	B;D	0.54601	0.001;0.967	B;P	0.60789	0.003;0.879	T	0.74386	-0.3682	9	0.66056	D	0.02	.	12.5422	0.56177	0.0:0.0:0.0:1.0	.	35;35	Q14123-2;Q14123	.;PDE1C_HUMAN	G	35	ENSP00000379494:R35G;ENSP00000318105:R35G;ENSP00000379487:R35G;ENSP00000379485:R35G	ENSP00000318105:R35G	R	-	1	2	PDE1C	32057716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.968000	0.56809	2.272000	0.75746	0.460000	0.39030	AGG		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Missense_Mutation	C	32091191	T	C	32091191	5	2	115	1	0	0	0	0	0	0	1	0	11635	1565	54	4	1865	4	PDE1C	7	32091191	Splice_Site	SNP	T	TCGA-12-0688-01A-02D-1492-08	10540320	32091191	127047472	30	7804											
ASL	435	broad.mit.edu	37	chr7	65554649	65554649	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacactatgagtgccgtgctCcaggtggccactggcgtcat	7	9	13	12	2	1	1	1	1	0	0	2	2	2	1	3	3	2	1	3	3	1	1	rs140532520	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:65554649C>G	ENST00000304874.9	+	14	1131	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	ASL_ENST00000395332.3_Silent_p.L343L|ASL_ENST00000395331.3_Silent_p.L323L|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Silent_p.L317L|AC068533.7_ENST00000450043.1_Missense_Mutation_p.P112A	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	343					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGCCGTGCTCCAGGTGGCCA	0.637																																						uc003tup.3																			0		p.V342V(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1027-1029)ctC>ctG		Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	L-Arginine(DB00125)						108	72	84					7																	65554649		2203	4300	6503	SO:0001819	synonymous_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554649C>G		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1029C>G	7.37:g.65554649C>G						ASL_uc003tuo.3_Silent_p.L343L|ASL_uc003tur.3_Silent_p.L317L|ASL_uc003tuq.3_Silent_p.L323L	p.L343L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN			12	1264	+			343					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	c.1029C>G	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	9.203	1.028946	0.19512	.	.	ENSG00000249319	ENST00000450043	.	.	.	5.09	-3.9	0.04181	.	.	.	.	.	T	0.62295	0.2416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62831	-0.6771	4	.	.	.	.	13.0988	0.59208	0.0:0.2182:0.6546:0.1273	.	.	.	.	A	112	.	.	P	+	1	0	AC068533.7	65192084	0.082000	0.21442	0.981000	0.43875	0.938000	0.57974	-0.897000	0.04110	-0.410000	0.07542	-0.260000	0.10688	CCA		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		G	65554649	C	G	65554649	2	3	115	1	0	0	0	0	0	0	0	1	1044	842	30	5		5	ASL	7	65554649	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	33463458	65554649	93584014	31	7805											
CNTNAP2	26047	broad.mit.edu	37	chr7	148112574	148112574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatccggtacatgttcCgccacaagggcacctaccat	9	9	8	15	2	0	1	0	1	0	0	3	1	3	1	6	2	2	3	6	2	3	3	rs138661307		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:148112574C>T	ENST00000361727.3	+	24	4378	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R347C|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1288					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1288S(1)|p.R1288C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTACATGTTCCGCCACAAGGG	0.567										HNSCC(39;0.1)																												uc003weu.2																			2	Substitution - Missense(2)	p.R1288S(2)|p.R1288C(2)	ovary(1)|lung(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3862-3864)Cgc>Tgc		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	85	71	76		3862	5.4	1	7	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CNTNAP2	NM_014141.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1288/1332	148112574	1,13005	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148112574C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3862C>T	7.37:g.148112574C>T	ENSP00000354778:p.Arg1288Cys	HNSCC(39;0.1)				CNTNAP2_uc003wev.2_Missense_Mutation_p.R65C	p.R1288C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		23	4378	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1288					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3862C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020129	0.93462	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.44482	0.92;0.92	5.42	5.42	0.78866	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.73011	-0.4117	10	0.87932	D	0	.	17.8137	0.88624	0.0:1.0:0.0:0.0	.	1288	Q9UHC6	CNTP2_HUMAN	C	1288;347	ENSP00000354778:R1288C;ENSP00000440732:R347C	ENSP00000354778:R1288C	R	+	1	0	CNTNAP2	147743507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.686000	0.84128	2.534000	0.85438	0.655000	0.94253	CGC		0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	148112574	C	T	148112574	3	4	115	1	0	0	0	0	1	0	0	0	3647	652	23	2	3956	2	CNTNAP2	7	148112574	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	82557925	148112574	11026089	32	7806											
PXDNL	137902	broad.mit.edu	37	chr8	52321474	52321474	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagcctgggattcccgctCcgagctcccgtaaacgttgg	7	8	13	13	4	0	1	0	0	0	1	3	4	3	2	4	2	3	4	4	2	2	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:52321474C>A	ENST00000356297.4	-	17	2810	c.2710G>T	c.(2710-2712)Gag>Tag	p.E904*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.E904*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	904					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GATTCCCGCTCCGAGCTCCCG	0.592																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2710-2712)Gag>Tag		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							39	44	42					8																	52321474		1986	4151	6137	SO:0001587	stop_gained	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321474C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2710G>T	8.37:g.52321474C>A	ENSP00000348645:p.Glu904*					PXDNL_uc003xqt.4_Non-coding_Transcript	p.E904*	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			16	2811	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	904					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	ENST00000356297.4	37	c.2710G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	39	7.508556	0.98329	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.03	3.1	0.35709	.	0.373843	0.22372	N	0.060930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.2879	0.43577	0.1993:0.8006:0.0:0.0	.	.	.	.	X	904	.	ENSP00000348645:E904X	E	-	1	0	PXDNL	52484027	0.915000	0.31059	0.002000	0.10522	0.132000	0.20833	2.639000	0.46570	0.607000	0.29982	0.561000	0.74099	GAG		0.592	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52321474	C	A	52321474	4	1	115	1	0	0	0	0	0	1	0	0	12848	864	30	5	1709	5	PXDNL	8	52321474	Nonsense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		52321474	94042548	33	7807											
DCAF13	25879	broad.mit.edu	37	chr8	104452461	104452461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctgatgaaatgaacattCgcctgtggaaagctaatgct	13	11	10	7	1	1	3	0	3	1	0	2	5	1	4	1	1	3	2	1	1	4	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:104452461C>T	ENST00000297579.5	+	9	1781	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	350					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAACATTCGCCTGTGGAA	0.328																																						uc003yln.3																			0		p.R502H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1504-1506)Cgc>Tgc		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.							157	160	159					8																	104452461		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104452461C>T	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1504C>T	8.37:g.104452461C>T	ENSP00000297579:p.Arg502Cys					DCAF13_uc003ylm.1_Missense_Mutation_p.R235C	p.R502C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			8	1781	+			350					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1504C>T	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428692	0.83667	.	.	ENSG00000164934	ENST00000297579	T	0.68025	-0.3	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86797	0.6019	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90239	0.4285	10	0.87932	D	0	-16.9876	18.481	0.90811	0.0:1.0:0.0:0.0	.	350	Q9NV06	DCA13_HUMAN	C	502	ENSP00000297579:R502C	ENSP00000297579:R502C	R	+	1	0	DCAF13	104521637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.477000	0.66799	2.583000	0.87209	0.650000	0.86243	CGC		0.328	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		T	104452461	C	T	104452461	3	4	115	1	0	0	0	0	1	0	0	0	4266	884	31	2	1538	2	DCAF13	8	104452461	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	52130987	104452461	41911561	34	7808											
TIGD5	84948	broad.mit.edu	37	chr8	144681263	144681263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgcagacaccggatgGcgctgtgcgggtgctgttcc	5	8	17	11	3	0	1	0	0	0	1	1	3	1	3	2	4	4	5	2	4	0	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144681263G>A	ENST00000504548.2	+	1	1190	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|TIGD5_ENST00000321385.3_Missense_Mutation_p.G348D|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000423316.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	397						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACACCGGATGGCGCTGTGCGG	0.692																																						uc003yyx.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1189-1191)gGc>gAc		Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.							9	11	10					8																	144681263		2159	4260	6419	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681263G>A	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1190G>A	8.37:g.144681263G>A	ENSP00000421489:p.Gly397Asp					EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	p.G397D	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		0	1190	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		397					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1190G>A	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502814	0.44558	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.37235	1.21;1.22	4.75	4.75	0.60458	.	0.000000	0.56097	U	0.000022	T	0.57844	0.2081	M	0.68317	2.08	0.33880	D	0.635981	D	0.89917	1.0	D	0.76575	0.988	T	0.67476	-0.5661	10	0.35671	T	0.21	.	16.74	0.85456	0.0:0.0:1.0:0.0	.	348	Q53EQ6	TIGD5_HUMAN	D	397;348	ENSP00000421489:G397D;ENSP00000315906:G348D	ENSP00000315906:G348D	G	+	2	0	TIGD5	144752406	1.000000	0.71417	0.090000	0.20809	0.186000	0.23388	4.960000	0.63673	2.173000	0.68751	0.655000	0.94253	GGC		0.692	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		A	144681263	G	A	144681263	3	1	115	1	0	0	0	0	1	0	0	0	15896	1203	42	3	1192	3	TIGD5	8	144681263	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	40228802	144681263	1682759	35	7809											
FAM83H	286077	broad.mit.edu	37	chr8	144808805	144808805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggccttcggggactccccGgagatggtaagggtgaggct	6	7	17	11	3	0	2	0	1	0	1	2	4	1	3	4	7	0	2	4	7	1	2	rs544120916		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144808805G>A	ENST00000388913.3	-	5	2951	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	942					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTCCCCGGAGATGGTAA	0.736																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(2824-2826)tcC>tcT		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							6	8	7					8																	144808805		1626	3679	5305	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808805G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2826C>T	8.37:g.144808805G>A							p.S942S	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	2895	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		942					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.2826C>T	CCDS6410.2																																																																																				0.736	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		A	144808805	G	A	144808805	2	1	115	1	0	0	0	0	0	0	0	1	5640	1103	39	2		2	FAM83H	8	144808805	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	127542	144808805	1555217	36	7810											
FAM75A3	727830	broad.mit.edu	37	chr9	40702725	40702725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccccaggtgaggtgggcGaaagagcacctgatggagcc	10	4	15	12	1	0	3	0	2	0	1	0	5	0	4	5	4	2	1	5	4	1	0	rs554911040		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:40702725G>A	ENST00000356699.5	+	4	411	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	128	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E128*(2)									TGAGGTGGGCGAAAGAGCACC	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		15898	0		0	False		,,,				2504	0					uc010mmj.3																			2	Substitution - Nonsense(2)	p.E128*(3)	kidney(2)	kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26						c.(382-384)Gaa>Aaa		Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.							13	13	13					9																	40702725		1132	2914	4046	SO:0001583	missense	727830					integral to membrane		g.chr9:40702725G>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.382G>A	9.37:g.40702725G>A	ENSP00000349132:p.Glu128Lys						p.E128K	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	3	411	+			128			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.382G>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.801782	0.00611	.	.	ENSG00000147926	ENST00000356699	T	0.03607	3.87	2.19	-1.88	0.07713	.	0.593182	0.15064	N	0.282606	T	0.00815	0.0027	N	0.00389	-1.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	10	0.02654	T	1	-2.7614	5.8906	0.18911	0.5124:0.0:0.4876:0.0	.	128	Q5VYP0	F75A3_HUMAN	K	128	ENSP00000349132:E128K	ENSP00000349132:E128K	E	+	1	0	FAM75A3	40692725	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.216000	0.09266	-0.463000	0.06973	-1.750000	0.00680	GAA		0.602	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		A	40702725	G	A	40702725	3	1	115	1	0	0	0	0	1	0	0	0	5621	1059	37	2	396	2	FAM75A3	9	40702725	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		40702725	100510706	37	7811											
TRPM3	80036	broad.mit.edu	37	chr9	73399100	73399100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagacaaccactggcaCgggaggggtgtctcgaaggt	11	6	14	10	2	2	1	1	0	1	1	3	3	2	2	1	5	1	1	1	5	2	0	rs141951214		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:73399100C>T	ENST00000377111.2	-	7	1312	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	TRPM3_ENST00000396292.4_Missense_Mutation_p.V229M|TRPM3_ENST00000377105.1_Missense_Mutation_p.V204M|TRPM3_ENST00000377106.1_Missense_Mutation_p.V229M|TRPM3_ENST00000408909.2_Missense_Mutation_p.V204M|TRPM3_ENST00000396283.1_Missense_Mutation_p.V229M|TRPM3_ENST00000396280.5_Missense_Mutation_p.V204M|TRPM3_ENST00000361823.5_Missense_Mutation_p.V204M|TRPM3_ENST00000357533.2_Missense_Mutation_p.V359M|TRPM3_ENST00000377110.3_Missense_Mutation_p.V357M|TRPM3_ENST00000358082.3_Missense_Mutation_p.V229M|TRPM3_ENST00000377101.1_Missense_Mutation_p.V204M|TRPM3_ENST00000360823.2_Missense_Mutation_p.V229M|TRPM3_ENST00000396285.1_Missense_Mutation_p.V204M|TRPM3_ENST00000423814.3_Missense_Mutation_p.V384M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	382					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCACTGGCACGGGAGGGGTG	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		16336	0		0	False		,,,				2504	0					uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1069-1071)Gtg>Atg		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	5,4401	9.9+/-24.2	0,5,2198	112	94	100		685,1069,610,610,610,610,685,685,610	6.2	1	9	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	21,21,21,21,21,21,21,21,21	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	229/256,357/1708,204/1555,204/1567,204/1545,204/1557,229/1580,229/1570,204/231	73399100	5,13001	2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73399100C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1069G>A	9.37:g.73399100C>T	ENSP00000366315:p.Val357Met					TRPM3_uc004ahu.3_Missense_Mutation_p.V187M|TRPM3_uc004ahv.3_Missense_Mutation_p.V187M|TRPM3_uc004ahw.3_Missense_Mutation_p.V229M|TRPM3_uc004ahx.3_Missense_Mutation_p.V204M|TRPM3_uc004ahy.3_Missense_Mutation_p.V229M|TRPM3_uc004ahz.3_Missense_Mutation_p.V204M|TRPM3_uc004aia.3_Missense_Mutation_p.V204M|TRPM3_uc004aib.3_Missense_Mutation_p.V204M|TRPM3_uc004aic.3_Missense_Mutation_p.V357M|TRPM3_uc010mor.3_Missense_Mutation_p.V357M|TRPM3_uc004aie.3_Missense_Mutation_p.V204M|TRPM3_uc004aif.3_Missense_Mutation_p.V229M|TRPM3_uc004aig.3_Missense_Mutation_p.V204M	p.V357M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			6	1313	-			382					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1069G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.561225|4.561225	0.86335|0.86335	0.001135|0.001135	0.0|0.0	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.73047	.|4.06;4.06;0.28;0.3;4.06;4.06;4.06;4.06;0.28;0.3;0.29;4.06;-0.71;1.72	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86112|0.86112	0.5855|0.5855	M|M	0.84219|0.84219	2.685|2.685	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D;D;P;P;D;D;D	.|0.89917	.|0.874;1.0;0.999;0.966;0.998;0.889;0.638;0.998;0.999;0.966	.|B;D;D;P;P;B;P;P;D;P	.|0.69479	.|0.282;0.964;0.964;0.473;0.875;0.281;0.556;0.875;0.943;0.576	D|D	0.86020|0.86020	0.1506|0.1506	5|10	.|0.66056	.|D	.|0.02	-10.7188|-10.7188	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|382;204;357;357;357;359;229;204;357;204	.|Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.	H|M	203|357;357;229;229;204;359;204;204;229;229;384;204;229;204	.|ENSP00000366315:V357M;ENSP00000366314:V357M;ENSP00000366310:V229M;ENSP00000354066:V229M;ENSP00000366309:V204M;ENSP00000350140:V359M;ENSP00000386127:V204M;ENSP00000379581:V204M;ENSP00000379587:V229M;ENSP00000350791:V229M;ENSP00000389542:V384M;ENSP00000366305:V204M;ENSP00000379579:V229M;ENSP00000355395:V204M	.|ENSP00000350140:V359M	R|V	-|-	2|1	0|0	TRPM3|TRPM3	72588920|72588920	0.999000|0.999000	0.42202|0.42202	0.975000|0.975000	0.42487|0.42487	0.879000|0.879000	0.50718|0.50718	4.034000|4.034000	0.57289|0.57289	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.547	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73399100	C	T	73399100	3	4	115	1	0	0	0	0	1	0	0	0	16584	536	19	1	4174	1	TRPM3	9	73399100	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	32696375	73399100	67814331	38	7812											
ROR2	4920	broad.mit.edu	37	chr9	94486082	94486082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccatcttctggggcgttCtgtgtgtcatcagcgccctc	3	12	11	15	2	5	0	2	0	3	0	6	0	5	0	3	2	1	1	3	2	0	2	rs141070315		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:94486082C>T	ENST00000375708.3	-	9	2892	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	898					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGGCGTTCTGTGTGTCAT	0.637																																						uc004arj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2692-2694)caG>caA		Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.							98	97	97					9																	94486082		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486082C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2694G>A	9.37:g.94486082C>T						ROR2_uc004ari.1_Intron	p.Q898Q	NM_004560	NP_004551	Q01974	ROR2_HUMAN			8	2893	-			898					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2694G>A	CCDS6691.1																																																																																				0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			T	94486082	C	T	94486082	2	4	115	1	0	0	0	0	0	0	0	1	13527	912	32	3		3	ROR2	9	94486082	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	21086982	94486082	46727349	39	7813											
OR1L1	26737	broad.mit.edu	37	chr9	125424265	125424265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttatcagagacaaagAccatctcttacagtgagtgt	13	12	7	9	0	3	3	1	1	2	2	4	4	3	3	1	0	1	0	1	0	3	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:125424265A>G	ENST00000373686.1	+	1	421	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OR1L1_ENST00000309623.1_Missense_Mutation_p.T91A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGAGACAAAGACCATCTCTTA	0.433																																						uc022bmz.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(271-273)Acc>Gcc		Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.							204	199	201					9																	125424265		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424265A>G		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.421A>G	9.37:g.125424265A>G	ENSP00000362790:p.Thr141Ala						p.T91A	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			0	271	+			141					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.271A>G		.	.	.	.	.	.	.	.	.	.	A	1.701	-0.501530	0.04261	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.01963	4.53;4.53	3.11	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01489	0.0048	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.49437	-0.8940	9	0.15066	T	0.55	.	3.8223	0.08841	0.6583:0.0:0.1808:0.1609	rs58911264	141	Q8NH94	OR1L1_HUMAN	A	141;91	ENSP00000362790:T141A;ENSP00000310773:T91A	ENSP00000310773:T91A	T	+	1	0	OR1L1	124464086	0.000000	0.05858	0.092000	0.20876	0.023000	0.10783	-0.556000	0.05992	-0.361000	0.08125	0.260000	0.18958	ACC		0.433	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				G	125424265	A	G	125424265	3	3	115	1	0	0	0	0	1	0	0	0	10963	275	10	4	273	4	OR1L1	9	125424265	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	30938183	125424265	15789166	40	7814											
EXD3	54932	broad.mit.edu	37	chr9	140201420	140201420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaagggactgctggcCgggctgggggctgggctcgg	4	6	20	11	2	1	1	1	0	0	1	2	2	1	2	2	7	1	4	2	7	1	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:140201420C>T	ENST00000340951.4	-	22	2808	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	EXD3_ENST00000342129.4_Silent_p.P509P	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GACTGCTGGCCGGGCTGGGGG	0.652																																						uc004cmp.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2611-2613)ccG>ccA		Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.							17	20	19					9																	140201420		1907	4094	6001	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140201420C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2613G>A	9.37:g.140201420C>T						EXD3_uc010ncf.1_Silent_p.P509P	p.P871P	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			21	2809	-			871					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.2613G>A	CCDS48066.1																																																																																				0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		T	140201420	C	T	140201420	2	4	115	1	0	0	0	0	0	0	0	1	5299	639	23	2		2	EXD3	9	140201420	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	14777155	140201420	1012011	41	7815											
MS4A3	932	broad.mit.edu	37	chr11	59828736	59828736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaatacttctgtctacCagcccatagatggatcacca	12	10	7	12	0	3	2	1	1	2	1	3	3	3	3	3	1	4	1	3	1	4	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:59828736C>A	ENST00000278865.3	+	2	176	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	MS4A3_ENST00000358152.2_Missense_Mutation_p.Q35K|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.Q35K|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	35				Q -> H (in Ref. 1; AAA62319). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTCTGTCTACCAGCCCATAGA	0.473																																						uc001nom.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(103-105)Cag>Aag		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							113	106	109					11																	59828736		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828736C>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.103C>A	11.37:g.59828736C>A	ENSP00000278865:p.Gln35Lys					MS4A3_uc001non.3_Missense_Mutation_p.Q35K|MS4A3_uc001noo.3_Intron	p.Q35K	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			1	231	+		all_epithelial(135;0.245)	35	Q -> H (in Ref. 1; AAA62319).				A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.103C>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961320	0.34565	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.35605	1.3;3.1;1.3	4.21	-0.299	0.12808	.	1.663950	0.02924	N	0.138284	T	0.24122	0.0584	L	0.27053	0.805	0.09310	N	1	B;B	0.22683	0.073;0.043	B;B	0.21708	0.036;0.016	T	0.11690	-1.0577	10	0.15499	T	0.54	-13.9211	5.1847	0.15178	0.5309:0.3654:0.0:0.1037	.	35;35	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	K	35	ENSP00000350872:Q35K;ENSP00000278865:Q35K;ENSP00000434117:Q35K	ENSP00000278865:Q35K	Q	+	1	0	MS4A3	59585312	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.074000	0.14662	0.133000	0.18654	0.563000	0.77884	CAG		0.473	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			A	59828736	C	A	59828736	3	1	115	1	0	0	0	0	1	0	0	0	9861	595	21	5	105	5	MS4A3	11	59828736	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		59828736	75177780	42	7816											
SLC22A6	9356	broad.mit.edu	37	chr11	62749352	62749352	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaaaggcgcagagacCagtagctgcaggtggcgcca	14	3	14	10	2	0	1	0	0	0	1	0	2	0	1	2	3	2	5	2	3	4	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:62749352C>A	ENST00000377871.3	-	4	1025	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SLC22A6_ENST00000360421.4_Silent_p.L253L|SLC22A6_ENST00000421062.2_Silent_p.L253L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Silent_p.L253L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	253					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCGCAGAGACCAGTAGCTGCA	0.617																																						uc001nwk.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(757-759)ctG>ctT		Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.							68	60	63					11																	62749352		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62749352C>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.759G>T	11.37:g.62749352C>A						SLC22A6_uc001nwl.3_Silent_p.L253L|SLC22A6_uc001nwj.3_Silent_p.L253L|SLC22A6_uc001nwm.3_Silent_p.L253L	p.L253L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			3	1092	-			253					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.759G>T	CCDS31591.1																																																																																				0.617	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		A	62749352	C	A	62749352	2	1	115	1	0	0	0	0	0	0	0	1	14458	581	21	5		5	SLC22A6	11	62749352	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	2920616	62749352	72257164	43	7817											
MMP13	4322	broad.mit.edu	37	chr11	102825250	102825250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtctggtaaaattcagagGagttacatcggaccaaactt	15	10	9	7	1	2	1	1	0	1	1	3	3	2	3	1	3	2	2	1	3	5	4	rs371894268		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:102825250G>A	ENST00000260302.3	-	3	476	c.448C>T	c.(448-450)Cct>Tct	p.P150S	MMP13_ENST00000340273.4_Missense_Mutation_p.P150S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	150					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AAATTCAGAGGAGTTACATCG	0.343																																						uc001phl.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(448-450)Cct>Tct		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							72	72	72					11																	102825250		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825250G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.448C>T	11.37:g.102825250G>A	ENSP00000260302:p.Pro150Ser						p.P150S	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	477	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	150					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.448C>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096454	0.76870	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.53857	0.6;0.6	5.9	5.9	0.94986	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.80054	-0.1543	10	0.87932	D	0	.	20.2683	0.98464	0.0:0.0:1.0:0.0	.	150	P45452	MMP13_HUMAN	S	150	ENSP00000260302:P150S;ENSP00000339672:P150S	ENSP00000260302:P150S	P	-	1	0	MMP13	102330460	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.813000	0.99286	2.800000	0.96347	0.591000	0.81541	CCT		0.343	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		A	102825250	G	A	102825250	3	1	115	1	0	0	0	0	1	0	0	0	9652	1174	41	3	999	3	MMP13	11	102825250	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	40075898	102825250	32181266	44	7818											
GPRC5A	9052	broad.mit.edu	37	chr12	13061399	13061399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctactcagtttctcttcctCctgggtgtgttgggcatctt	3	17	9	12	0	3	0	1	0	2	0	6	0	5	0	3	2	1	3	3	2	1	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:13061399C>T	ENST00000014914.5	+	2	1106	c.216C>T	c.(214-216)ctC>ctT	p.L72L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	72					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTCTTCCTCCTGGGTGTGT	0.557																																						uc001rba.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(214-216)ctC>ctT		Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	Tretinoin(DB00755)						168	151	157					12																	13061399		2203	4300	6503	SO:0001819	synonymous_variant	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061399C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.216C>T	12.37:g.13061399C>T							p.L72L	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	1	866	+		Prostate(47;0.141)	72					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.216C>T	CCDS8657.1																																																																																				0.557	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			T	13061399	C	T	13061399	2	4	115	1	0	0	0	0	0	0	0	1	6724	842	30	3		3	GPRC5A	12	13061399	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		13061399	120790496	45	7819											
ATF7IP	55729	broad.mit.edu	37	chr12	14599967	14599967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaagcagccaaagaaGatcttaagaaaagacatgaa	19	7	9	6	0	1	6	0	2	1	4	1	6	1	6	1	0	2	2	1	0	7	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:14599967G>T	ENST00000540793.1	+	5	2130	c.1975G>T	c.(1975-1977)Gat>Tat	p.D659Y	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D658Y|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D658Y|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D659Y|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D667Y			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	659	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGAAGATCTTAAGAA	0.308																																						uc001rbw.3																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1975-1977)Gat>Tat		Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.							54	61	59					12																	14599967		2203	4295	6498	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14599967G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1975G>T	12.37:g.14599967G>T	ENSP00000444589:p.Asp659Tyr					ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.3_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.4_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.3_Missense_Mutation_p.D659Y	p.D659Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			5	2133	+			659			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1975G>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345862	0.82022	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22539	1.95;2.0;1.95;1.95;1.95	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.47192	0.1432	M	0.61703	1.905	0.53688	D	0.999974	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.995;0.995;1.0;1.0	T	0.40098	-0.9581	10	0.87932	D	0	-22.1552	19.2538	0.93938	0.0:0.0:1.0:0.0	.	667;658;658;659;658;270	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	Y	659;658;658;667;659	ENSP00000261168:D659Y;ENSP00000443179:D658Y;ENSP00000445955:D658Y;ENSP00000440440:D667Y;ENSP00000444589:D659Y	ENSP00000261168:D659Y	D	+	1	0	ATF7IP	14491234	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.778000	0.62368	2.648000	0.89879	0.563000	0.77884	GAT		0.308	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		T	14599967	G	T	14599967	3	4	115	1	0	0	0	0	1	0	0	0	1087	942	33	5	1993	5	ATF7IP	12	14599967	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	1538568	14599967	119251928	46	7820											
SYNE2	23224	broad.mit.edu	37	chr14	64634098	64634098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggccacggcactggagCgctgcaggttagaacatccc	9	5	12	15	3	0	1	0	0	0	1	1	2	1	2	3	4	3	4	3	4	2	1	rs370674900		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr14:64634098C>T	ENST00000344113.4	+	91	16965	c.16753C>T	c.(16753-16755)Cgc>Tgc	p.R5585C	SYNE2_ENST00000555002.1_Missense_Mutation_p.R2219C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1970C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R1970C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5585C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5460C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5585					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCACTGGAGCGCTGCAGGTT	0.478																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(16753-16755)Cgc>Tgc		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							60	61	60					14																	64634098		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64634098C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16753C>T	14.37:g.64634098C>T	ENSP00000341781:p.Arg5585Cys					SYNE2_uc001xgm.3_Missense_Mutation_p.R5585C|SYNE2_uc010apy.3_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.3_Missense_Mutation_p.R547C|SYNE2_uc021rui.1_Missense_Mutation_p.R505C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	p.R5585C	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	90	16983	+			5585					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.16753C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857059	0.71834	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55234	0.53;3.83;0.53;0.74;3.88;3.83	5.78	4.85	0.62838	.	0.338551	0.25484	N	0.030351	T	0.64227	0.2579	M	0.65498	2.005	0.58432	D	0.999999	D;B;D;D	0.89917	1.0;0.017;0.998;0.999	D;B;P;P	0.64042	0.921;0.005;0.836;0.784	T	0.65269	-0.6209	10	0.62326	D	0.03	.	7.5639	0.27868	0.1235:0.6885:0.1199:0.068	.	1970;5460;5585;5585	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5585;1970;5585;5460;5466;2219;1970	ENSP00000350719:R5585C;ENSP00000349969:R1970C;ENSP00000341781:R5585C;ENSP00000452570:R5460C;ENSP00000450831:R2219C;ENSP00000378249:R1970C	ENSP00000261678:R5466C	R	+	1	0	SYNE2	63703851	0.001000	0.12720	0.993000	0.49108	0.698000	0.40448	0.985000	0.29578	2.890000	0.99128	0.655000	0.94253	CGC		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64634098	C	T	64634098	3	4	115	1	0	0	0	0	1	0	0	0	15443	768	27	1	17111	1	SYNE2	14	64634098	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		64634098	42715442	47	7821											
WDR72	256764	broad.mit.edu	37	chr15	53889439	53889439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgttgttgaacttcCgccaagagaacagcttgtat	10	14	9	8	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	4	6			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378																																						uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2983-2985)gcG>gcA		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							207	192	197					15																	53889439		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53889439C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2985G>A	15.37:g.53889439C>T							p.A995A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	17	3027	-			995					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2985G>A	CCDS10151.1																																																																																				0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53889439	C	T	53889439	2	4	115	1	0	0	0	0	0	0	0	1	17319	639	23	2		2	WDR72	15	53889439	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		53889439	48641953	48	7822											
C16orf53	79447	broad.mit.edu	37	chr16	29827999	29828009	+	Frame_Shift_Del	DEL	AGGAGGCCGAG	AGGAGGCCGAG	-																															aaggccgaggacgagggggaAggaggccgagaggagaccga																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:29827999_29828009delAGGAGGCCGAG	ENST00000320330.6	+	1	715_725	c.153_163delAGGAGGCCGAG	c.(151-165)gaaggaggccgagagfs	p.EGGRE51fs	AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Frame_Shift_Del_p.EGGRE51fs|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	51	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											ACGAGGGGGAAGGAGGCCGAGAGGAGACCGA	0.697											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dug.4																			0				kidney(1)|lung(1)|prostate(1)	3						c.(151-165)gaaggaggccgagagfs		Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.																																				SO:0001589	frameshift_variant	79447							g.chr16:29827999_29828009delAGGAGGCCGAG	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.153_163delAGGAGGCCGAG	16.37:g.29827999_29828009delAGGAGGCCGAG	ENSP00000326519:p.Glu51fs		OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	BOLA2_uc010bzb.1_Intron	p.E51fs	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN			0	472_482	+			51			Glu-rich.		A2ICR6	Frame_Shift_Del	DEL	ENST00000320330.6	37	c.153_163delAGGAGGCCGAG	CCDS10655.1																																																																																				0.697	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		-	29828009	AGGAGGCCGAG	-	29827999	7	5	115	1	0	1	0	1	0	0	0	0	1818	69	3	0	155	0	C16orf53	16	29827999	Frame_Shift_Del	DEL	AGGAGGCCGAG	TCGA-12-0688-01A-02D-1492-08		29827999	60526754	49	7823											
FAM65A	79567	broad.mit.edu	37	chr16	67572596	67572596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcccggtcttcagcccGccggggcccccacggaagcc	5	6	12	18	4	2	0	1	0	1	0	3	1	3	1	6	4	2	1	6	4	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:67572596G>A	ENST00000379312.3	+	3	259	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM65A_ENST00000422602.2_Silent_p.P62P|FAM65A_ENST00000428437.2_Silent_p.P56P|FAM65A_ENST00000540839.3_Silent_p.P62P|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Silent_p.P42P|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCTTCAGCCCGCCGGGGCCCC	0.682																																						uc010vjp.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(184-186)ccG>ccA		Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.							32	39	37					16																	67572596		2129	4162	6291	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67572596G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.138G>A	16.37:g.67572596G>A						FAM65A_uc010cei.2_5'UTR|FAM65A_uc002eth.3_Silent_p.P42P|FAM65A_uc010cej.3_Silent_p.P46P|FAM65A_uc002eti.2_Intron|FAM65A_uc010vjq.2_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.3_Silent_p.P41P	p.P62P	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	2	372	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	46					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.186G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048452	0.36181	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.25	-5.86	0.02304	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39313	-0.9620	4	.	.	.	-9.7149	0.896	0.01263	0.2136:0.1398:0.3166:0.33	.	.	.	.	T	37	.	.	A	+	1	0	FAM65A	66130097	0.002000	0.14202	0.892000	0.35008	0.918000	0.54935	-0.984000	0.03755	-0.999000	0.03442	0.491000	0.48974	GCC		0.682	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		A	67572596	G	A	67572596	2	1	115	1	0	0	0	0	0	0	0	1	5599	1074	38	1		1	FAM65A	16	67572596	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	37744597	67572596	22782157	50	7824											
LRRC37B	114659	broad.mit.edu	37	chr17	30348508	30348508	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctggggccagagccgttcTtggctgcacatcaggactta	7	9	12	13	1	2	1	1	0	1	1	2	2	2	2	3	4	2	3	3	4	1	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:30348508T>C	ENST00000341671.7	+	1	348	c.343T>C	c.(343-345)Ttg>Ctg	p.L115L	LRRC37B_ENST00000584368.1_Silent_p.L127L|LRRC37B_ENST00000394713.3_Silent_p.L115L|LRRC37B_ENST00000543378.2_Silent_p.L33L|LRRC37B_ENST00000327564.7_Silent_p.L142L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	115						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGAGCCGTTCTTGGCTGCACA	0.547																																						uc002hgu.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(343-345)Ttg>Ctg		Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.							74	79	77					17																	30348508		2201	4299	6500	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30348508T>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.343T>C	17.37:g.30348508T>C						LRRC37B_uc010wbx.2_Silent_p.L33L|LRRC37B_uc010csu.3_Silent_p.L115L	p.L115L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			0	354	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	115					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.343T>C	CCDS32609.1																																																																																				0.547	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		C	30348508	T	C	30348508	2	2	115	1	0	0	0	0	0	0	0	1	8994	1606	56	4		4	LRRC37B	17	30348508	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08		30348508	50846702	51	7825											
G6PC3	92579	broad.mit.edu	37	chr17	42152338	42152338	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctctcttctttctagcCgctgggtaagggtgatgcct	4	15	11	11	1	3	1	0	1	3	0	4	1	3	1	3	2	3	2	3	2	2	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:42152338C>A	ENST00000269097.4	+	4	649	c.418C>A	c.(418-420)Cgc>Agc	p.R140S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	140					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTTCTAGCCGCTGGGTAAG	0.542																																						uc002iex.3																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.e4-1		Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA.							216	204	208					17																	42152338		2203	4300	6503	SO:0001630	splice_region_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152338C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.417-1C>A	17.37:g.42152338C>A						G6PC3_uc002iey.3_Splice_Site_p.S14_splice|G6PC3_uc002iez.3_Splice_Site_p.S14_splice	p.S139_splice	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	653	+		Breast(137;0.00637)|Prostate(33;0.0313)	139					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.417_splice	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262298	0.23051	.	.	ENSG00000141349	ENST00000269097	T	0.75477	-0.94	5.19	4.19	0.49359	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.536176	0.20036	N	0.100618	T	0.69967	0.3170	M	0.82923	2.615	0.32576	N	0.529164	B	0.21606	0.058	B	0.22880	0.042	T	0.64542	-0.6383	10	0.08599	T	0.76	-6.8018	6.7317	0.23387	0.1785:0.7315:0.0:0.09	.	140	Q9BUM1	G6PC3_HUMAN	S	140	ENSP00000269097:R140S	ENSP00000269097:R140S	R	+	1	0	G6PC3	39507864	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.464000	0.35288	1.250000	0.43966	0.655000	0.94253	CGC		0.542	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387	Missense_Mutation	A	42152338	C	A	42152338	5	1	115	1	0	0	0	0	0	0	1	0	6145	666	23	5	432	5	G6PC3	17	42152338	Splice_Site	SNP	C	TCGA-12-0688-01A-02D-1492-08	11803830	42152338	39042872	52	7826											
RALBP1	10928	broad.mit.edu	37	chr18	9516893	9516893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctggagatgaggcagaaAgtccttctaaaatgaagagg	14	8	13	6	0	2	5	0	2	2	3	3	6	3	5	1	3	0	2	1	3	4	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:9516893A>G	ENST00000019317.4	+	3	518	c.295A>G	c.(295-297)Agt>Ggt	p.S99G	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.S99G|RNU2-27P_ENST00000516185.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	99					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TGAGGCAGAAAGTCCTTCTAA	0.373																																						uc002kob.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(295-297)Agt>Ggt		Homo sapiens ralA binding protein 1 (RALBP1), mRNA.							60	64	63					18																	9516893		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9516893A>G	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.295A>G	18.37:g.9516893A>G	ENSP00000019317:p.Ser99Gly					RALBP1_uc002koc.3_Missense_Mutation_p.S99G	p.S99G	NM_006788	NP_006779	Q15311	RBP1_HUMAN			2	518	+			99					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.295A>G	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902047	0.52227	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.12147	2.71;2.71	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.60455	1.87	0.58432	D	0.999999	B	0.33345	0.409	B	0.34722	0.188	T	0.02053	-1.1222	10	0.49607	T	0.09	-6.5598	14.9078	0.70733	1.0:0.0:0.0:0.0	.	99	Q15311	RBP1_HUMAN	G	99	ENSP00000019317:S99G;ENSP00000372924:S99G	ENSP00000019317:S99G	S	+	1	0	RALBP1	9506893	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	1.969000	0.57287	0.533000	0.62120	AGT		0.373	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		G	9516893	A	G	9516893	3	3	115	1	0	0	0	0	1	0	0	0	13012	72	3	4	301	4	RALBP1	18	9516893	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		9516893	68560355	53	7827											
PTPN2	5771	broad.mit.edu	37	chr18	12794472	12794472	+	Frame_Shift_Del	DEL	T	T	-																															tttctgtcctctcgaatacgTttccgtagagcactatgagg																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:12794472delT	ENST00000309660.5	-	9	1146	c.1053delA	c.(1051-1053)aaafs	p.K351fs	PTPN2_ENST00000591497.1_Frame_Shift_Del_p.K322fs|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Frame_Shift_Del_p.K351fs|PTPN2_ENST00000591115.1_Frame_Shift_Del_p.K374fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	351	Endoplasmic reticulum location.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTCGAATACGTTTCCGTAGAG	0.428																																						uc002krp.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(1051-1053)aaafs		Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.							119	94	102					18																	12794472		2203	4300	6503	SO:0001589	frameshift_variant	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12794472delT	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.1053delA	18.37:g.12794472delT	ENSP00000311857:p.Lys351fs					PTPN2_uc002krn.3_Frame_Shift_Del_p.K374fs|PTPN2_uc002krl.3_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.3_Intron	p.K351fs	NM_002828	NP_002819	P17706	PTN2_HUMAN			8	1247	-		Lung NSC(161;8.94e-06)	351					A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Frame_Shift_Del	DEL	ENST00000309660.5	37	c.1053delA	CCDS11865.1																																																																																				0.428	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		-	12794472	T	-	12794472	7	5	115	1	0	1	0	1	0	0	0	0	12785	1722	60	0	224	0	PTPN2	18	12794472	Frame_Shift_Del	DEL	T	TCGA-12-0688-01A-02D-1492-08	3277579	12794472	65282776	54	7828											
GATA6	2627	broad.mit.edu	37	chr18	19762971	19762971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagatgattgcagcaaaaaTacttcccccacaacacaacc	16	7	4	14	0	1	2	1	1	0	1	2	2	2	2	3	0	5	2	3	0	5	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:19762971T>A	ENST00000269216.3	+	6	1864	c.1587T>A	c.(1585-1587)aaT>aaA	p.N529K	GATA6_ENST00000581694.1_Missense_Mutation_p.N529K|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	529					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCAGCAAAAATACTTCCCCCA	0.373																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1585-1587)aaT>aaA		Homo sapiens GATA binding protein 6 (GATA6), mRNA.							118	106	110					18																	19762971		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762971T>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1587T>A	18.37:g.19762971T>A	ENSP00000269216:p.Asn529Lys					GATA6_uc002ktu.1_Missense_Mutation_p.N529K	p.N529K	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		5	1852	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		529					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1587T>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030589	0.54790	.	.	ENSG00000141448	ENST00000269216	D	0.97772	-4.53	6.07	-1.7	0.08159	.	0.214632	0.46145	D	0.000316	D	0.93710	0.7990	L	0.59436	1.845	0.39990	D	0.975024	B	0.31817	0.341	B	0.26969	0.075	D	0.86259	0.1654	10	0.11182	T	0.66	-13.3343	9.101	0.36669	0.0:0.4789:0.118:0.4031	.	529	Q92908	GATA6_HUMAN	K	529	ENSP00000269216:N529K	ENSP00000269216:N529K	N	+	3	2	GATA6	18016969	0.289000	0.24334	0.943000	0.38184	0.998000	0.95712	-0.281000	0.08456	-0.271000	0.09272	0.528000	0.53228	AAT		0.373	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		A	19762971	T	A	19762971	3	1	115	1	0	0	0	0	1	0	0	0	6258	1403	49	5	1605	5	GATA6	18	19762971	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	6968499	19762971	58314277	55	7829											
CDH2	1000	broad.mit.edu	37	chr18	25591942	25591942	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaacactatttcttcAacttctgctgactcctttac	8	16	5	12	0	3	1	1	1	2	0	4	2	4	2	1	1	4	1	1	1	4	7			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:25591942A>C	ENST00000269141.3	-	4	837	c.414T>G	c.(412-414)gtT>gtG	p.V138V	CDH2_ENST00000399380.3_Silent_p.V107V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	138					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATTTCTTCAACTTCTGCTG	0.388																																						uc002kwg.2																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(412-414)gtT>gtG		Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.							152	136	141					18																	25591942		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25591942A>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.414T>G	18.37:g.25591942A>C						CDH2_uc010xbn.1_Silent_p.V107V	p.V138V	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	873	-			138					A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.414T>G	CCDS11891.1																																																																																				0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		C	25591942	A	C	25591942	2	2	115	1	0	0	0	0	0	0	0	1	3105	117	5	5		5	CDH2	18	25591942	Silent	SNP	A	TCGA-12-0688-01A-02D-1492-08	5828971	25591942	52485306	56	7830											
SBNO2	22904	broad.mit.edu	37	chr19	1113547	1113547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctccgccacccgcTgggggccgcccagctggtcg	4	4	12	21	4	0	0	0	0	0	0	2	0	1	0	7	3	1	2	7	3	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:1113547T>C	ENST00000361757.3	-	19	2471	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	SBNO2_ENST00000438103.2_Missense_Mutation_p.Q688R|SBNO2_ENST00000587024.1_Missense_Mutation_p.Q735R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	745					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCCGCTGGGGGCCGCC	0.697																																						uc002lrk.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2233-2235)cAg>cGg		Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.							12	18	16					19																	1113547		1913	4067	5980	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1113547T>C	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2234A>G	19.37:g.1113547T>C	ENSP00000354733:p.Gln745Arg					SBNO2_uc002lrj.4_Missense_Mutation_p.Q688R|SBNO2_uc010dse.3_Missense_Mutation_p.Q728R	p.Q745R	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2472	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	745					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2234A>G	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286996	0.23478	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.3	3.27	0.37495	.	0.242425	0.40640	N	0.001051	T	0.29321	0.0730	L	0.31926	0.97	0.22541	N	0.999006	B;B	0.33318	0.408;0.355	B;B	0.28465	0.09;0.054	T	0.17379	-1.0371	9	0.62326	D	0.03	-16.2378	10.2851	0.43562	0.0:0.0:0.1663:0.8337	.	745;688	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	R	745;688;752	.	ENSP00000250872:Q752R	Q	-	2	0	SBNO2	1064547	1.000000	0.71417	0.004000	0.12327	0.011000	0.07611	4.565000	0.60836	0.675000	0.31264	-0.488000	0.04728	CAG		0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		C	1113547	T	C	1113547	3	2	115	1	0	0	0	0	1	0	0	0	13863	1580	55	4	1922	4	SBNO2	19	1113547	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08		1113547	58015436	57	7831											
ZNF554	115196	broad.mit.edu	37	chr19	2833912	2833912	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggatttggggaaaatggtAatctgagcccagcccttgtt	10	12	12	7	0	1	1	0	1	1	0	1	3	1	3	2	4	2	2	2	4	3	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:2833912A>T	ENST00000317243.5	+	5	877	c.679A>T	c.(679-681)Aat>Tat	p.N227Y	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGTAATCTGAGCCC	0.502																																						uc002lwm.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(679-681)Aat>Tat		Homo sapiens zinc finger protein 554 (ZNF554), mRNA.							106	107	106					19																	2833912		1898	4115	6013	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2833912A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.679A>T	19.37:g.2833912A>T	ENSP00000321132:p.Asn227Tyr					ZNF554_uc002lwl.2_Missense_Mutation_p.N176Y	p.N227Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	877	+		Hepatocellular(1079;0.137)	227					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.679A>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744399	0.30865	.	.	ENSG00000172006	ENST00000317243	T	0.06768	3.26	2.71	-1.25	0.09405	.	.	.	.	.	T	0.04724	0.0128	L	0.34521	1.04	0.09310	N	0.999999	P	0.40476	0.718	B	0.28139	0.086	T	0.34204	-0.9838	9	0.66056	D	0.02	.	5.555	0.17111	0.2868:0.5361:0.0:0.177	.	227	Q86TJ5	ZN554_HUMAN	Y	227	ENSP00000321132:N227Y	ENSP00000321132:N227Y	N	+	1	0	ZNF554	2784912	0.006000	0.16342	0.001000	0.08648	0.020000	0.10135	1.023000	0.30065	-0.090000	0.12462	-1.339000	0.01253	AAT		0.502	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		T	2833912	A	T	2833912	3	4	115	1	0	0	0	0	1	0	0	0	17982	362	13	5	697	5	ZNF554	19	2833912	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	1720365	2833912	56295071	58	7832											
MCOLN1	57192	broad.mit.edu	37	chr19	7591685	7591685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcactgggccggtatgcGtatgtccgtggtgggggtga	4	11	19	7	3	1	1	1	1	0	0	2	1	2	1	2	5	1	2	2	5	2	2	rs374412302		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7591685G>A	ENST00000264079.6	+	4	569	c.444G>A	c.(442-444)gcG>gcA	p.A148A		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	148					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCGGTATGCGTATGTCCGTG	0.657																																						uc002mgo.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(442-444)gcG>gcA		Homo sapiens mucolipin 1 (MCOLN1), mRNA.		G		0,4406		0,0,2203	133	91	106		444	-2.6	0.3	19		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCOLN1	NM_020533.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		148/581	7591685	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591685G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.444G>A	19.37:g.7591685G>A						MCOLN1_uc002mgp.3_Missense_Mutation_p.R35H	p.A148A	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			3	585	+			148					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	c.444G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209793	0.39003	0.0	1.16E-4	ENSG00000090674	ENST00000394321	.	.	.	5.24	-2.59	0.06209	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.23036	N	0.998394	B	0.12630	0.006	B	0.08055	0.003	T	0.24870	-1.0148	7	0.87932	D	0	.	4.1266	0.10129	0.3559:0.2352:0.3368:0.0721	.	35	Q9GZU1-2	.	H	35	.	ENSP00000377856:R35H	R	+	2	0	MCOLN1	7497685	0.001000	0.12720	0.315000	0.25238	0.384000	0.30261	-1.612000	0.02061	-0.647000	0.05444	-0.165000	0.13383	CGT		0.657	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		A	7591685	G	A	7591685	2	1	115	1	0	0	0	0	0	0	0	1	9395	1132	40	1		1	MCOLN1	19	7591685	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	4757773	7591685	51537298	59	7833											
CLEC4M	10332	broad.mit.edu	37	chr19	7832494	7832494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgtggcaatgggtggaCggctcacctctgtcacccag	7	7	14	13	2	3	0	2	0	1	0	3	1	3	1	2	5	0	3	2	5	1	0	rs370711365		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7832494C>T	ENST00000327325.5	+	6	1147	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000394122.2_Silent_p.D331D|CLEC4M_ENST00000334806.5_Silent_p.D292D|CLEC4M_ENST00000595496.1_Silent_p.D207D|CLEC4M_ENST00000596707.1_Silent_p.D276D|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000248228.4_Silent_p.D321D|CLEC4M_ENST00000359059.5_Silent_p.D276D|CLEC4M_ENST00000597522.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	343	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AATGGGTGGACGGCTCACCTC	0.562																																						uc010dvt.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1027-1029)gaC>gaT		Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.		C	,,,,,,,,	0,4406		0,0,2203	111	95	100		876,957,621,828,,891,960,,1029	-2.5	0.2	19		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,	292/349,319/376,207/264,276/333,,297/354,320/377,,343/400	7832494	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7832494C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1029C>T	19.37:g.7832494C>T						CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Silent_p.D320D|CLEC4M_uc010xjw.2_Silent_p.D276D|CLEC4M_uc010dvs.3_Silent_p.D319D|CLEC4M_uc010xjx.2_Silent_p.D292D|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Silent_p.D207D	p.D343D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN			5	1147	+			343			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.1029C>T	CCDS12187.1																																																																																				0.562	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		T	7832494	C	T	7832494	2	4	115	1	0	0	0	0	0	0	0	1	3518	535	19	1		1	CLEC4M	19	7832494	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	240809	7832494	51296489	60	7834											
CYP4F12	66002	broad.mit.edu	37	chr19	15795890	15795890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaggccatgacaccaCggccagtggcctctcctggg	6	7	11	17	1	2	1	1	1	1	0	4	1	3	1	6	4	0	0	6	4	0	0	rs199760551		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:15795890C>T	ENST00000550308.1	+	9	1378	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T333M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	333					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CATGACACCACGGCCAGTGGC	0.627																																						uc002nbl.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(997-999)aCg>aTg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.		C	MET/THR	7,4399		0,7,2196	40	38	39		998	2.5	1	19		39	0,8600		0,0,4300	no	missense	CYP4F12	NM_023944.3	81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	333/525	15795890	7,12999	2203	4300	6503	SO:0001583	missense	66002							g.chr19:15795890C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.998C>T	19.37:g.15795890C>T	ENSP00000448998:p.Thr333Met						p.T333M	NM_023944	NP_076433					8	1117	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.998C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	13.71	2.319057	0.41096	0.001589	0.0	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.78364	-1.17;-1.17	2.47	2.47	0.30058	.	0.000000	0.64402	U	0.000001	D	0.90373	0.6987	H	0.95917	3.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.91999	0.5609	10	0.87932	D	0	.	11.0413	0.47833	0.0:1.0:0.0:0.0	.	333	Q9HCS2	CP4FC_HUMAN	M	333	ENSP00000448998:T333M;ENSP00000321821:T333M	ENSP00000321821:T333M	T	+	2	0	CYP4F12	15656890	0.999000	0.42202	0.990000	0.47175	0.171000	0.22731	4.730000	0.62015	1.683000	0.51011	0.313000	0.20887	ACG		0.627	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15795890	C	T	15795890	3	4	115	1	0	0	0	0	1	0	0	0	4187	536	19	1	1028	1	CYP4F12	19	15795890	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	7963396	15795890	43333093	61	7835											
SBSN	374897	broad.mit.edu	37	chr19	36019170	36019170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaggagccgaccagaCgtgcaagatgcatattgctg	11	6	15	9	2	0	2	0	0	0	2	0	5	0	4	2	2	5	4	2	2	2	2	rs138249808		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:36019170C>T	ENST00000452271.2	-	1	42	c.14G>A	c.(13-15)cGt>cAt	p.R5H	SBSN_ENST00000518157.1_Missense_Mutation_p.R5H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	5						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCGACCAGACGTGCAAGATG	0.587																																						uc002oad.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(13-15)cGt>cAt		Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36	33	34		14,14,14	-6.9	0	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	5/591,5/170,5/248	36019170	1,13005	2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36019170C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.14G>A	19.37:g.36019170C>T	ENSP00000430242:p.Arg5His					SBSN_uc002oae.2_Missense_Mutation_p.R5H|SBSN_uc021usp.1_Missense_Mutation_p.R5H	p.R5H	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		0	84	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		5					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.14G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469512	0.04445	0.0	1.16E-4	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.44881	0.91;0.92	4.38	-6.86	0.01676	.	2.111040	0.02268	N	0.068156	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.11542	-1.0583	10	0.44086	T	0.13	.	3.5922	0.07993	0.1062:0.3275:0.3855:0.1809	.	5;5	Q6UWP8;E9PBV3	SBSN_HUMAN;.	H	5	ENSP00000430242:R5H;ENSP00000428771:R5H	ENSP00000430242:R5H	R	-	2	0	SBSN	40711010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.866000	0.04245	-1.707000	0.01402	-1.164000	0.01763	CGT		0.587	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		T	36019170	C	T	36019170	3	4	115	1	0	0	0	0	1	0	0	0	13864	536	19	1	1774	1	SBSN	19	36019170	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	20223280	36019170	23109813	62	7836											
FCGBP	8857	broad.mit.edu	37	chr19	40380305	40380305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcaggtgcccatgaagtcGaagcggtggccatcgaaggt	10	6	15	10	4	0	1	0	1	0	0	2	3	0	1	2	4	2	1	2	4	3	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40380305G>A	ENST00000221347.6	-	23	11017	c.11010C>T	c.(11008-11010)ttC>ttT	p.F3670F	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3670	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGTGGC	0.672																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11008-11010)ttC>ttT		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							85	101	97					19																	40380305		837	2803	3640	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40380305G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11010C>T	19.37:g.40380305G>A							p.F3670F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		22	11018	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3670			VWFD 9.		O95784	Silent	SNP	ENST00000221347.6	37	c.11010C>T	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40380305	G	A	40380305	2	1	115	1	0	0	0	0	0	0	0	1	5778	1049	37	2		2	FCGBP	19	40380305	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	4361135	40380305	18748678	63	7837											
PRX	57716	broad.mit.edu	37	chr19	40902798	40902798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctggaagccgcacctcCggcacagccatctctggcac	8	6	9	18	2	2	0	0	0	2	0	4	1	3	1	5	3	2	3	5	3	1	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40902798C>T	ENST00000324001.7	-	7	1731	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	487	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGCACCTCCGGCACAGCCA	0.597																																						uc002onr.3																			0		p.P487L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1459-1461)ccG>ccA		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.							82	96	91					19																	40902798		2202	4295	6497	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902798C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1461G>A	19.37:g.40902798C>T						PRX_uc002onq.3_Silent_p.P348P|PRX_uc002ons.3_3'UTR	p.P487P	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	1730	-			487			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1461G>A	CCDS33028.1																																																																																				0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40902798	C	T	40902798	2	4	115	1	0	0	0	0	0	0	0	1	12642	639	23	2		2	PRX	19	40902798	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	522493	40902798	18226185	64	7838											
ZNF816A	125893	broad.mit.edu	37	chr19	53453300	53453300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtgcaaggattcctttTtgattaaaaaccttcgcaca	11	15	7	8	1	0	1	0	1	0	0	2	2	1	2	2	1	2	3	2	1	4	6			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:53453300T>C	ENST00000357666.4	-	5	2028	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.Q576Q|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGATTCCTTTTTGATTAAAAA	0.388																																						uc002qal.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1726-1728)caA>caG		Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.							72	73	73					19																	53453300		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453300T>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1728A>G	19.37:g.53453300T>C						ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.Q576Q|ZNF816_uc002qam.2_Silent_p.Q576Q	p.Q576Q	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN			4	2079	-			576					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.1728A>G	CCDS33096.1																																																																																				0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		C	53453300	T	C	53453300	2	2	115	1	0	0	0	0	0	0	0	1	18174	1838	64	4		4	ZNF816A	19	53453300	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08	12550502	53453300	5675683	65	7839											
RPN2	6185	broad.mit.edu	37	chr20	35835810	35835810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagttgtggttgtgccTgagggctctgcttccgacac	4	12	14	11	1	1	1	0	1	1	0	2	2	2	1	3	2	3	4	3	2	0	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:35835810T>C	ENST00000237530.6	+	7	1136	c.825T>C	c.(823-825)ccT>ccC	p.P275P	RPN2_ENST00000373622.5_Silent_p.P243P	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	275					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGGTTGTGCCTGAGGGCTCTG	0.537																																						uc002xgp.3																			0		p.V274E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(823-825)ccT>ccC		Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.							177	155	163					20																	35835810		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35835810T>C	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.825T>C	20.37:g.35835810T>C						RPN2_uc010gfw.2_Silent_p.P118P|RPN2_uc002xgq.3_Silent_p.P243P|RPN2_uc021wdb.1_Silent_p.P57P	p.P275P	NM_002951	NP_002942	P04844	RPN2_HUMAN			6	1129	+		Myeloproliferative disorder(115;0.00878)	275					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.825T>C	CCDS13291.1																																																																																				0.537	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		C	35835810	T	C	35835810	2	2	115	1	0	0	0	0	0	0	0	1	13608	1567	55	4		4	RPN2	20	35835810	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08		35835810	27189710	66	7840											
SLC13A3	64849	broad.mit.edu	37	chr20	45194937	45194937	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaactcagtgaagaaggcGatgaccacagtgatgagcag	15	5	13	8	1	1	5	1	4	0	1	1	6	1	5	1	1	2	2	1	1	3	0	rs147641404		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:45194937G>A	ENST00000279027.4	-	11	1443	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SLC13A3_ENST00000435032.1_Silent_p.I60I|SLC13A3_ENST00000413164.2_Silent_p.I425I|SLC13A3_ENST00000495082.1_Silent_p.I428I|SLC13A3_ENST00000472148.1_Silent_p.I393I|SLC13A3_ENST00000396360.1_Silent_p.I393I|SLC13A3_ENST00000290317.5_Silent_p.I428I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	475					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGAAGAAGGCGATGACCACAG	0.617																																						uc002xsf.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1423-1425)atC>atT		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	Succinic acid(DB00139)						112	112	112					20																	45194937		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194937G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1425C>T	20.37:g.45194937G>A						SLC13A3_uc010ghn.2_Silent_p.I444I|SLC13A3_uc010zxx.2_Silent_p.I377I|SLC13A3_uc010zxw.2_Silent_p.I425I|SLC13A3_uc002xsg.2_Silent_p.I428I|SLC13A3_uc010gho.2_Silent_p.I393I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I62I|SLC13A3_uc010zxv.2_Silent_p.I60I	p.I475I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			10	1465	-		Myeloproliferative disorder(115;0.0122)	475					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1425C>T	CCDS13400.1																																																																																				0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			A	45194937	G	A	45194937	2	1	115	1	0	0	0	0	0	0	0	1	14393	1048	37	2		2	SLC13A3	20	45194937	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	9359127	45194937	17830583	67	7841											
KCNG1	3755	broad.mit.edu	37	chr20	49626233	49626233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgcggcctctccaccatgtCgcgcagtcgccgcatgcagc	5	7	12	17	5	1	0	0	0	1	0	4	0	1	0	4	1	3	3	4	1	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:49626233C>G	ENST00000371571.4	-	2	928	c.643G>C	c.(643-645)Gac>Cac	p.D215H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.D215H	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	215					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCACCATGTCGCGCAGTCGC	0.726																																						uc002xwa.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(643-645)Gac>Cac		Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.							17	19	18					20																	49626233		2200	4294	6494	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626233C>G	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.643G>C	20.37:g.49626233C>G	ENSP00000360626:p.Asp215His					KCNG1_uc002xwb.3_Missense_Mutation_p.D215H	p.D215H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			1	938	-			215					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.643G>C	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953438	0.92660	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216	D;D;D	0.97959	-4.63;-2.7;-3.28	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.965	D	0.99395	1.0926	9	.	.	.	.	19.7261	0.96164	0.0:1.0:0.0:0.0	.	215;215	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	H	215	ENSP00000360626:D215H;ENSP00000379338:D215H;ENSP00000394075:D215H	.	D	-	1	0	KCNG1	49059640	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.999000	0.70665	2.667000	0.90743	0.561000	0.74099	GAC		0.726	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		G	49626233	C	G	49626233	3	3	115	1	0	0	0	0	1	0	0	0	8027	884	31	5	906	5	KCNG1	20	49626233	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	4431296	49626233	13399287	68	7842											
COL6A2	1292	broad.mit.edu	37	chr21	47532419	47532419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacgagctctaccgcaaCgactacgccaccatgctgcc	9	5	8	19	5	1	0	0	0	1	0	1	2	1	0	5	0	6	4	5	0	3	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr21:47532419C>T	ENST00000300527.4	+	3	746	c.642C>T	c.(640-642)aaC>aaT	p.N214N	COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000409416.1_Silent_p.N214N|COL6A2_ENST00000397763.1_Silent_p.N214N|COL6A2_ENST00000310645.5_Silent_p.N214N|COL6A2_ENST00000357838.4_Silent_p.N214N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	214	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACCGCAACGACTACGCCA	0.667																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(640-642)aaC>aaT		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							26	34	31					21																	47532419		2199	4294	6493	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532419C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.642C>T	21.37:g.47532419C>T						COL6A2_uc002zhz.1_Silent_p.N214N|COL6A2_uc002zhy.1_Silent_p.N214N	p.N214N	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	724	+	Breast(49;0.245)		214			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.642C>T	CCDS13728.1																																																																																				0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47532419	C	T	47532419	2	4	115	1	0	0	0	0	0	0	0	1	3700	535	19	1		1	COL6A2	21	47532419	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		47532419	597476	69	7843											
FGF13	2258	broad.mit.edu	37	chrX	137785220	137785220	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttggatagccaccactcGcagacccacagggatgaggt	10	7	11	13	1	0	2	0	1	0	1	2	4	1	4	4	3	1	1	4	3	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chrX:137785220G>A	ENST00000315930.6	-	3	989	c.328C>T	c.(328-330)Cga>Tga	p.R110*	FGF13_ENST00000305414.4_Nonsense_Mutation_p.R57*|FGF13_ENST00000441825.2_Nonsense_Mutation_p.R91*|FGF13_ENST00000370603.3_Nonsense_Mutation_p.R120*|FGF13_ENST00000541469.1_Nonsense_Mutation_p.R64*	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	110	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCCACCACTCGCAGACCCACA	0.408																																						uc004fam.3																			0		p.R110L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(328-330)Cga>Tga		Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.							100	85	90					X																	137785220		2203	4300	6503	SO:0001587	stop_gained	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137785220G>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.328C>T	X.37:g.137785220G>A	ENSP00000322390:p.Arg110*					FGF13_uc004fan.3_Nonsense_Mutation_p.R57*|FGF13_uc011mwi.2_Nonsense_Mutation_p.R91*|FGF13_uc004faq.3_Nonsense_Mutation_p.R120*|FGF13_uc004far.3_Nonsense_Mutation_p.R91*|FGF13_uc011mwj.2_Nonsense_Mutation_p.R120*|FGF13_uc011mwk.2_Nonsense_Mutation_p.R64*	p.R110*	NM_004114	NP_004105	Q92913	FGF13_HUMAN			2	990	-	Acute lymphoblastic leukemia(192;0.000127)		110					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Nonsense_Mutation	SNP	ENST00000315930.6	37	c.328C>T	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	G	37	6.351757	0.97498	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3545	0.87332	0.0:0.0:1.0:0.0	.	.	.	.	X	110;57;91;120;64;120;126	.	ENSP00000303391:R57X	R	-	1	2	FGF13	137612886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.557000	0.82243	2.311000	0.77944	0.594000	0.82650	CGA		0.408	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		A	137785220	G	A	137785220	4	1	115	1	0	0	0	0	0	1	0	0	5842	1095	38	1	421	1	FGF13	23	137785220	Nonsense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		137785220	17485340	70	7844											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309242	1309242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcttcctttagccccGccttcagccagatgcgcctc	4	9	11	17	3	1	1	1	0	0	1	3	1	2	1	6	2	3	1	6	2	1	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:1309242G>A	ENST00000338370.3	-	3	939	c.539C>T	c.(538-540)gCg>gTg	p.A180V	AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.A180V|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.A180V|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.A180V			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	180					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTTAGCCCCGCCTTCAGCCA	0.597																																						uc001afb.1																			0				kidney(1)|lung(2)	3						c.(538-540)gCg>gTg		Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.							54	60	58					1																	1309242		2203	4296	6499	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309242G>A		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.539C>T	1.37:g.1309242G>A	ENSP00000342676:p.Ala180Val					AURKAIP1_uc001afc.2_Missense_Mutation_p.A180V|AURKAIP1_uc009vkb.1_Missense_Mutation_p.A180V|AURKAIP1_uc001afd.2_Missense_Mutation_p.A180V	p.A180V	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	649	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	180					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.539C>T	CCDS25.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.689228	0.88735	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.53	4.53	0.55603	.	0.069725	0.56097	D	0.000029	T	0.70859	0.3272	M	0.73217	2.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.75175	-0.3410	10	0.87932	D	0	-13.694	14.7984	0.69894	0.0:0.0:1.0:0.0	.	180	Q9NWT8	AKIP_HUMAN	V	180	ENSP00000340656:A180V;ENSP00000342676:A180V;ENSP00000319778:A180V;ENSP00000368130:A180V	ENSP00000319778:A180V	A	-	2	0	AURKAIP1	1299105	1.000000	0.71417	0.984000	0.44739	0.877000	0.50540	8.872000	0.92352	2.216000	0.71823	0.655000	0.94253	GCG		0.597	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		A	1309242	G	A	1309242	3	1	116	1	0	0	0	0	1	0	0	0	1222	1087	38	1	64	1	AURKAIP1	1	1309242	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		1309242	247941379	1	7845											
APITD1	378708	broad.mit.edu	37	chr1	10493980	10493980	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagatgcagttcagcaaaCagaccattgcggccatttcg	13	8	10	10	2	1	2	1	0	0	2	2	3	1	2	2	1	4	3	2	1	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:10493980C>T	ENST00000309048.3	+	2	208	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	APITD1-CORT_ENST00000470413.2_Nonsense_Mutation_p.Q45*|APITD1_ENST00000602787.1_Nonsense_Mutation_p.Q45*|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000400900.2_Nonsense_Mutation_p.Q45*|APITD1_ENST00000602296.1_Nonsense_Mutation_p.Q45*|APITD1-CORT_ENST00000465026.1_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	45					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTTCAGCAAACAGACCATTGC	0.488																																						uc001arf.3																			0											c.(133-135)Cag>Tag		Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA.							144	136	139					1																	10493980		2203	4300	6503	SO:0001587	stop_gained	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10493980C>T	BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"centromere protein S"	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.133C>T	1.37:g.10493980C>T	ENSP00000308583:p.Gln45*					APITD1-CORT_uc001are.3_Nonsense_Mutation_p.Q45*|APITD1-CORT_uc021ogd.1_Nonsense_Mutation_p.Q45*|APITD1-CORT_uc021oge.1_Non-coding_Transcript|APITD1-CORT_uc021ogf.1_Intron|APITD1-CORT_uc021ogg.1_Intron	p.Q45*	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN			1	549	+			45					Q8NFE5|Q8NFG5	Nonsense_Mutation	SNP	ENST00000309048.3	37	c.133C>T	CCDS115.1	.	.	.	.	.	.	.	.	.	.	C	40	8.482028	0.98829	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	6.17	6.17	0.99709	.	0.058361	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.1634	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000383692:Q45X	Q	+	1	0	APITD1-CORT;APITD1	10416567	1.000000	0.71417	0.549000	0.28204	0.938000	0.57974	6.139000	0.71728	2.941000	0.99782	0.655000	0.94253	CAG		0.488	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		T	10493980	C	T	10493980	4	4	116	1	0	0	0	0	0	1	0	0	775	479	17	3	139	3	APITD1	1	10493980	Nonsense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	9184738	10493980	238756641	2	7846											
DIRAS3	9077	broad.mit.edu	37	chr1	68512685	68512685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgtggcgctgcagagcgCggttgccgtcgccactcttg	5	9	14	13	6	1	1	0	0	1	1	2	1	1	1	2	2	4	3	2	2	1	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:68512685C>G	ENST00000370981.1	-	4	932	c.296G>C	c.(295-297)cGc>cCc	p.R99P	DIRAS3_ENST00000395201.1_Missense_Mutation_p.R99P|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	99					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R99H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587																																						uc021ooq.1																			1	Substitution - Missense(1)	p.R99H(2)	endometrium(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(295-297)cGc>cCc		Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.							112	118	116					1																	68512685		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512685C>G	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.296G>C	1.37:g.68512685C>G	ENSP00000360020:p.Arg99Pro					GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.R99P	p.R99P	NM_004675	NP_004666	O95661	DIRA3_HUMAN			0	296	-			99					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.296G>C	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.795115	0.00617	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.78126	-1.15;-1.15	0.427	0.427	0.16489	Small GTP-binding protein domain (1);	.	.	.	.	T	0.23492	0.0568	N	0.01128	-1	0.27924	N	0.93813	B	0.12013	0.005	B	0.06405	0.002	T	0.20974	-1.0259	8	0.29301	T	0.29	.	.	.	.	.	99	O95661	DIRA3_HUMAN	P	99	ENSP00000360020:R99P;ENSP00000378627:R99P	ENSP00000360020:R99P	R	-	2	0	DIRAS3	68285273	0.992000	0.36948	0.002000	0.10522	0.014000	0.08584	2.790000	0.47821	0.458000	0.26988	0.467000	0.42956	CGC		0.587	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		G	68512685	C	G	68512685	3	3	116	1	0	0	0	0	1	0	0	0	4532	768	27	5	397	5	DIRAS3	1	68512685	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	58018705	68512685	180737936	3	7847											
GON4L	54856	broad.mit.edu	37	chr1	155792117	155792117	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgctgttagattgtgcTgcttggcaccatcctccaag	7	13	10	11	0	0	2	0	1	0	1	2	2	2	2	3	1	3	5	3	1	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:155792117T>G	ENST00000368331.1	-	4	896	c.848A>C	c.(847-849)cAg>cCg	p.Q283P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.Q283P|GON4L_ENST00000271883.5_Missense_Mutation_p.Q283P|GON4L_ENST00000361040.5_Missense_Mutation_p.Q283P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGATTGTGCTGCTTGGCACC	0.458																																						uc001flz.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(847-849)cAg>cCg		Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.							370	281	311					1																	155792117		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155792117T>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.848A>C	1.37:g.155792117T>G	ENSP00000357315:p.Gln283Pro					GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.3_Missense_Mutation_p.Q283P|GON4L_uc001fmd.4_Missense_Mutation_p.Q283P|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.Q111P|GON4L_uc001fmf.3_5'Flank	p.Q283P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			3	945	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		283					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.848A>C		.	.	.	.	.	.	.	.	.	.	T	21.0	4.089795	0.76756	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14640	2.67;2.67;2.67;2.49	5.4	5.4	0.78164	.	0.066531	0.64402	D	0.000008	T	0.24122	0.0584	L	0.54323	1.7	0.44547	D	0.997504	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.989;0.975;0.989	T	0.00975	-1.1494	10	0.72032	D	0.01	.	15.2398	0.73461	0.0:0.0:0.0:1.0	.	283;283;283;283	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	P	283	ENSP00000396117:Q283P;ENSP00000357315:Q283P;ENSP00000271883:Q283P;ENSP00000354322:Q283P	ENSP00000271883:Q283P	Q	-	2	0	GON4L	154058741	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.318000	0.79029	2.270000	0.75569	0.459000	0.35465	CAG		0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		G	155792117	T	G	155792117	3	3	116	1	0	0	0	0	1	0	0	0	6572	1580	55	5	6107	5	GON4L	1	155792117	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08	87279432	155792117	93458504	4	7848											
OLFML2B	25903	broad.mit.edu	37	chr1	161993080	161993080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctggttgtccgcctcGttttgcagagtctcgtcctc	2	16	9	14	3	2	1	0	0	2	1	8	1	4	1	4	1	1	3	4	1	0	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:161993080G>A	ENST00000294794.3	-	1	564	c.141C>T	c.(139-141)aaC>aaT	p.N47N	OLFML2B_ENST00000367940.2_Silent_p.N47N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	47					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTCCGCCTCGTTTTGCAGAG	0.602																																						uc010pkq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(139-141)aaC>aaT		Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.							154	130	138					1																	161993080		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161993080G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.141C>T	1.37:g.161993080G>A						OLFML2B_uc001gbu.3_Silent_p.N47N	p.N47N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		0	565	-	all_hematologic(112;0.156)		47					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.141C>T	CCDS1236.1																																																																																				0.602	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161993080	G	A	161993080	2	1	116	1	0	0	0	0	0	0	0	1	10858	1136	40	1		1	OLFML2B	1	161993080	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	6200963	161993080	87257541	5	7849											
SMG7	9887	broad.mit.edu	37	chr1	183514093	183514093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccaacatatgttatcccCccgcctgtggcattttctat	7	13	5	16	1	1	0	0	0	1	0	2	0	2	0	6	1	1	2	6	1	4	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:183514093C>T	ENST00000347615.2	+	16	2135	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	SMG7_ENST00000515829.2_Silent_p.P626P|SMG7_ENST00000507469.1_Silent_p.P626P|SMG7_ENST00000508461.1_Silent_p.P630P|SMG7_ENST00000456731.2_Silent_p.P584P|SMG7_ENST00000367537.3_Silent_p.P655P	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	672	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATGTTATCCCCCCGCCTGTGG	0.443																																						uc001gqg.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2014-2016)ccC>ccT		Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.							100	106	104					1																	183514093		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514093C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2016C>T	1.37:g.183514093C>T						SMG7_uc010pob.2_Silent_p.P655P|SMG7_uc021pga.1_Silent_p.P584P|SMG7_uc001gqf.3_Silent_p.P626P|SMG7_uc001gqh.3_Silent_p.P626P|SMG7_uc010poc.2_Silent_p.P630P	p.P672P	NM_173156	NP_775179	Q92540	SMG7_HUMAN			15	2266	+			672			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.2016C>T	CCDS1355.1																																																																																				0.443	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		T	183514093	C	T	183514093	2	4	116	1	0	0	0	0	0	0	0	1	14798	610	22	3		3	SMG7	1	183514093	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	21521013	183514093	65736528	6	7850											
FAM129A	116496	broad.mit.edu	37	chr1	184787863	184787863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacacgtacttcactgaatCccgagctcactggtcccatg	9	10	8	14	2	2	1	2	1	0	0	4	2	4	1	2	1	3	3	2	1	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:184787863C>T	ENST00000367511.3	-	9	1275	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_ENST00000487074.1_5'UTR|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	361					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537																																						uc001gra.3																			0		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1081-1083)gGa>gAa		Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.							187	177	180					1																	184787863		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787863C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1082G>A	1.37:g.184787863C>T	ENSP00000356481:p.Gly361Glu					FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	p.G361E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			8	1276	-			361					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1082G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339772	0.81911	.	.	ENSG00000135842	ENST00000367511	T	0.18502	2.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.78456	2.415	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.45702	-0.9243	10	0.66056	D	0.02	-20.6478	16.5243	0.84326	0.0:1.0:0.0:0.0	.	361	Q9BZQ8	NIBAN_HUMAN	E	361	ENSP00000356481:G361E	ENSP00000356481:G361E	G	-	2	0	FAM129A	183054486	1.000000	0.71417	0.982000	0.44146	0.825000	0.46686	6.579000	0.74036	2.389000	0.81357	0.557000	0.71058	GGA		0.537	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			T	184787863	C	T	184787863	3	4	116	1	0	0	0	0	1	0	0	0	5436	855	30	3	1728	3	FAM129A	1	184787863	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	1273770	184787863	64462758	7	7851											
CFHR4	3080	broad.mit.edu	37	chr1	196884097	196884097	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttcagattcttcagaaAagtgtgggcctcctccacct	8	15	7	11	0	3	2	2	0	1	2	5	2	5	2	4	1	0	0	4	1	2	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:196884097A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.K210Q|CFHR4_ENST00000608469.1_Missense_Mutation_p.K80Q|CFHR4_ENST00000367418.2_Missense_Mutation_p.K210Q|CFHR4_ENST00000367416.2_Missense_Mutation_p.K456Q			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTCTTCAGAAAAGTGTGGGCC	0.358																																						uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1369-1371)Aag>Cag		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							37	38	37					1																	196884097		2193	4276	6469	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196884097A>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34488A>C	1.37:g.196884097A>C						CFH_uc021pgt.1_Missense_Mutation_p.K80Q|CFH_uc009wyy.3_Missense_Mutation_p.K456Q|CFH_uc001gto.3_Missense_Mutation_p.K210Q	p.K457Q	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			8	1506	+			810			Sushi 8.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1369A>C		.	.	.	.	.	.	.	.	.	.	A	13.04	2.117085	0.37339	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65916	-0.18;-0.18;-0.18	3.16	1.95	0.26073	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.56485	0.1988	L	0.55743	1.74	0.09310	N	1	B;P;P	0.49559	0.409;0.925;0.454	B;P;B	0.46758	0.131;0.526;0.15	T	0.42716	-0.9435	9	0.26408	T	0.33	.	5.5529	0.17101	0.754:0.0:0.0:0.246	.	456;457;210	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	Q	456;210;210;210	ENSP00000356386:K456Q;ENSP00000356388:K210Q;ENSP00000251424:K210Q	ENSP00000251424:K210Q	K	+	1	0	CFHR4	195150720	0.000000	0.05858	0.006000	0.13384	0.462000	0.32619	0.509000	0.22707	0.217000	0.20800	0.166000	0.16787	AAG		0.358	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		C	196884097	A	C	196884097	1	2	116	0	1	0	0	0	0	0	0	0	3287	15	1	5		5	CFHR4	1	196884097	Intron	SNP	A	TCGA-12-0692-01A-01W-0348-08	12096234	196884097	52366524	8	7852											
HIST3H3	8290	broad.mit.edu	37	chr1	228612870	228612870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggacttctggtagcggcGgatctcgcgaagcgccaccg	7	7	15	12	6	2	0	0	0	2	0	3	3	2	2	2	4	2	1	2	4	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:228612870G>A	ENST00000366696.1	-	1	156	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	53					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TGGTAGCGGCGGATCTCGCGA	0.652																																						uc001hsx.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(157-159)Cgc>Tgc		Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.							70	74	73					1																	228612870		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612870G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.157C>T	1.37:g.228612870G>A	ENSP00000355657:p.Arg53Cys						p.R53C	NM_003493	NP_003484	Q16695	H31T_HUMAN			0	157	-		Prostate(94;0.0724)	53					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.157C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.569638	0.28003	.	.	ENSG00000168148	ENST00000366696	T	0.53857	0.6	3.89	2.96	0.34315	Histone-fold (2);	0.000000	0.39615	N	0.001304	T	0.80660	0.4665	H	0.99740	4.74	0.54753	D	0.999983	D	0.76494	0.999	P	0.58454	0.839	D	0.86659	0.1903	10	0.66056	D	0.02	.	11.1177	0.48270	0.0:0.0:0.8138:0.1862	.	53	Q16695	H31T_HUMAN	C	53	ENSP00000355657:R53C	ENSP00000355657:R53C	R	-	1	0	HIST3H3	226679493	1.000000	0.71417	0.977000	0.42913	0.006000	0.05464	9.002000	0.93572	1.179000	0.42884	-0.194000	0.12790	CGC		0.652	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		A	228612870	G	A	228612870	3	1	116	1	0	0	0	0	1	0	0	0	7184	1116	39	2	257	2	HIST3H3	1	228612870	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	31728773	228612870	20637751	9	7853											
ASB3	100302652	broad.mit.edu	37	chr2	53941692	53941692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcacaggcccggttaGtaagtggtattaacaagtcc	11	10	11	9	1	1	0	1	0	0	0	2	0	2	0	2	3	1	3	2	3	5	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:53941692G>A	ENST00000263634.3	-	7	943	c.809C>T	c.(808-810)aCt>aTt	p.T270I	ASB3_ENST00000406625.2_Missense_Mutation_p.T305I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.T197I|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.T308I|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.T197I|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		GGCCCGGTTAGTAAGTGGTAT	0.393																																						uc002rxi.4																			0											c.(922-924)aCt>aTt		Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.							108	105	106					2																	53941692		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53941692G>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.809C>T	2.37:g.53941692G>A	ENSP00000263634:p.Thr270Ile					GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.T197I|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.T270I|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.T197I|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.T187I	p.T308I	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN			6	1028	-			305						Missense_Mutation	SNP	ENST00000263634.3	37	c.923C>T	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774799	0.90108	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	6.02	6.02	0.97574	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.77486	2.375	0.39837	D	0.973056	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	1.0;0.987;0.944	T	0.80659	-0.1284	9	0.56958	D	0.05	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	187;305;270	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	I	270;305;197;197;308;187	ENSP00000263634:T270I;ENSP00000385085:T305I;ENSP00000384728:T197I;ENSP00000378206:T197I;ENSP00000313756:T308I	ENSP00000263634:T270I	T	-	2	0	ASB3	53795196	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.940000	0.92958	2.865000	0.98341	0.655000	0.94253	ACT		0.393	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			A	53941692	G	A	53941692	3	1	116	1	0	0	0	0	1	0	0	0	1024	1029	36	3	763	3	ASB3	2	53941692	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		53941692	189257681	10	7854											
DPP10	57628	broad.mit.edu	37	chr2	116593731	116593731	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatatatttttcccccccAgggttatggtggctatattg	8	17	8	8	0	0	0	0	0	0	0	1	0	1	0	3	3	0	2	3	3	7	10			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:116593731A>G	ENST00000410059.1	+	22	2430		c.e22-1		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCCCCCCCAGGGTTATGGT	0.333																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.e22-2		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							40	40	40					2																	116593731		2203	4300	6503	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593731A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1951-1A>G	2.37:g.116593731A>G						DPP10_uc002tla.2_Splice_Site_p.G651_splice|DPP10_uc002tlb.2_Splice_Site_p.G601_splice|DPP10_uc002tlc.2_Splice_Site_p.G647_splice|DPP10_uc002tlf.2_Splice_Site_p.G644_splice	p.G655_splice	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			22	1984	+			651					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37	c.1963_splice	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031542	0.35797	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6283	0.68638	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116310201	1.000000	0.71417	0.918000	0.36340	0.338000	0.28826	7.479000	0.81095	2.036000	0.60181	0.383000	0.25322	.		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron	G	116593731	A	G	116593731	5	3	116	1	0	0	0	0	0	0	1	0	4727	202	7	4	2206	4	DPP10	2	116593731	Splice_Site	SNP	A	TCGA-12-0692-01A-01W-0348-08	62652039	116593731	126605642	11	7855											
RBM45	129831	broad.mit.edu	37	chr2	178990756	178990756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtgtcaggaaaaaaTgtggggtatgccaagtatgc	12	11	12	6	0	1	0	1	0	0	0	1	1	1	1	2	3	3	2	2	3	7	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:178990756T>C	ENST00000286070.5	+	9	1370	c.1278T>C	c.(1276-1278)aaT>aaC	p.N426N		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	428	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAGGAAAAAATGTGGGGTATG	0.383																																						uc002ulv.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1276-1278)aaT>aaC		Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.							163	150	154					2																	178990756		2203	4300	6503	SO:0001819	synonymous_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178990756T>C	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1278T>C	2.37:g.178990756T>C							p.N426N	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1370	+			428			RRM 3.		Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	c.1278T>C	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.350|9.350	1.065183|1.065183	0.20067|0.20067	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000424099|ENST00000455903	.|.	.|.	.|.	5.74|5.74	2.05|2.05	0.26809|0.26809	.|.	.|.	.|.	.|.	.|.	T|T	0.57140|0.57140	0.2033|0.2033	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47812|0.47812	-0.9088|-0.9088	4|4	.|.	.|.	.|.	-25.2319|-25.2319	8.4069|8.4069	0.32621|0.32621	0.0:0.2841:0.0:0.7159|0.0:0.2841:0.0:0.7159	.|.	.|.	.|.	.|.	R|T	25|87	.|.	.|.	C|M	+|+	1|2	0|0	RBM45|RBM45	178699002|178699002	0.915000|0.915000	0.31059|0.31059	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	-0.070000|-0.070000	0.11523|0.11523	0.108000|0.108000	0.17862|0.17862	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.383	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		C	178990756	T	C	178990756	2	2	116	1	0	0	0	0	0	0	0	1	13139	1461	51	4		4	RBM45	2	178990756	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08	62397025	178990756	64208617	12	7856											
ZDBF2	57683	broad.mit.edu	37	chr2	207169709	207169709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcccttggagtttgttCataaaattggggccagtgtg	9	12	13	7	0	1	0	1	0	0	0	1	1	1	1	2	3	2	3	2	3	2	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:207169709C>T	ENST00000374423.3	+	5	843	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	153							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAGTTTGTTCATAAAATTGG	0.448																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(457-459)Cat>Tat		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							49	46	47					2																	207169709		1851	4105	5956	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169709C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.457C>T	2.37:g.207169709C>T	ENSP00000363545:p.His153Tyr						p.H153Y	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	707	+			153					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.457C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	4.420	0.077623	0.08485	.	.	ENSG00000204186	ENST00000374423	T	0.17528	2.27	4.94	1.1	0.20463	.	1.568210	0.04236	N	0.336130	T	0.17152	0.0412	L	0.50333	1.59	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.29305	-1.0016	10	0.42905	T	0.14	.	4.4932	0.11824	0.1437:0.5457:0.0:0.3106	.	153	Q9HCK1	ZDBF2_HUMAN	Y	153	ENSP00000363545:H153Y	ENSP00000363545:H153Y	H	+	1	0	ZDBF2	206877954	0.000000	0.05858	0.062000	0.19696	0.485000	0.33311	0.151000	0.16283	-0.079000	0.12707	-0.913000	0.02753	CAT		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207169709	C	T	207169709	3	4	116	1	0	0	0	0	1	0	0	0	17596	826	29	3	467	3	ZDBF2	2	207169709	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	28178953	207169709	36029664	13	7857											
BARD1	580	broad.mit.edu	37	chr2	215609857	215609857	+	Frame_Shift_Del	DEL	C	C	-																															cttcaaggtactttgaactgCatcaccaggaacaacaacat																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:215609857delC	ENST00000260947.4	-	9	1971	c.1837delG	c.(1837-1839)gcafs	p.A613fs	BARD1_ENST00000449967.2_Frame_Shift_Del_p.A469fs	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	613	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTGAACTGCATCACCAGGA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1837-1839)gcafs		Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.							89	82	84					2																	215609857		2203	4300	6503	SO:0001589	frameshift_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215609857delC		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1837delG	2.37:g.215609857delC	ENSP00000260947:p.Ala613fs					BARD1_uc021vwe.1_Frame_Shift_Del_p.A594fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.A516fs|BARD1_uc021vwg.1_Frame_Shift_Del_p.A162fs|BARD1_uc021vwh.1_Frame_Shift_Del_p.A143fs|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Frame_Shift_Del_p.A179fs|BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	p.A613fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1972	-		Renal(323;0.0243)	613			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL	ENST00000260947.4	37	c.1837delG	CCDS2397.1																																																																																				0.338	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		-	215609857	C	-	215609857	7	5	116	1	0	1	0	1	0	0	0	0	1312	710	25	0	508	0	BARD1	2	215609857	Frame_Shift_Del	DEL	C	TCGA-12-0692-01A-01W-0348-08	8440148	215609857	27589516	14	7858											
XIRP1	165904	broad.mit.edu	37	chr3	39225931	39225931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatggagataaatgttgggGaggagggagaatctcggctg	11	8	19	3	1	1	2	0	0	1	2	2	7	1	5	0	7	0	2	0	7	3	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:39225931G>T	ENST00000340369.3	-	2	5234	c.5006C>A	c.(5005-5007)tCc>tAc	p.S1669Y	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.S352Y	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1669					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAATGTTGGGGAGGAGGGAGA	0.537																																						uc003cjk.2																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5005-5007)tCc>tAc		Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.							83	88	86					3																	39225931		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225931G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5006C>A	3.37:g.39225931G>T	ENSP00000343140:p.Ser1669Tyr					XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S352Y|XIRP1_uc021wvz.1_Missense_Mutation_p.S1669Y	p.S1669Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	5235	-			1669					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5006C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305791	0.81247	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.49432	2.8;0.78	4.75	4.75	0.60458	.	0.139272	0.49916	U	0.000132	T	0.67730	0.2924	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.71971	-0.4431	10	0.87932	D	0	.	15.6025	0.76636	0.0:0.0:1.0:0.0	.	1669	Q702N8	XIRP1_HUMAN	Y	1669;352	ENSP00000343140:S1669Y;ENSP00000391645:S352Y	ENSP00000343140:S1669Y	S	-	2	0	XIRP1	39200935	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.950000	0.49081	2.379000	0.81126	0.655000	0.94253	TCC		0.537	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39225931	G	T	39225931	3	4	116	1	0	0	0	0	1	0	0	0	17426	1174	41	5	529	5	XIRP1	3	39225931	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		39225931	158796499	15	7859											
KALRN	8997	broad.mit.edu	37	chr3	124053259	124053259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttacatcaccagcgaCggctggagagcatctggcag	10	7	14	10	2	2	1	1	0	1	1	2	3	2	1	1	4	3	4	1	4	1	1	rs147539685		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:124053259C>T	ENST00000240874.3	+	9	1715	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	KALRN_ENST00000460856.1_Missense_Mutation_p.R520W|KALRN_ENST00000360013.3_Missense_Mutation_p.R520W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	520					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCACCAGCGACGGCTGGAGAG	0.622																																						uc003ehg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1558-1560)Cgg>Tgg		Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.							58	60	59					3																	124053259		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053259C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1558C>T	3.37:g.124053259C>T	ENSP00000240874:p.Arg520Trp					KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	p.R520W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			8	1685	+			520					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1558C>T	CCDS3027.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.8	4.046683	0.75846	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.42513	0.97;0.97;0.97	4.97	4.03	0.46877	.	0.066271	0.64402	D	0.000011	T	0.47002	0.1422	N	0.22421	0.69	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;P;P	0.61275	0.772;0.548;0.886	T	0.51220	-0.8733	10	0.72032	D	0.01	.	15.4338	0.75125	0.1391:0.8609:0.0:0.0	.	520;520;520	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	W	520	ENSP00000418611:R520W;ENSP00000240874:R520W;ENSP00000353109:R520W	ENSP00000240874:R520W	R	+	1	2	KALRN	125535949	0.998000	0.40836	1.000000	0.80357	0.387000	0.30353	2.884000	0.48562	2.735000	0.93741	0.655000	0.94253	CGG		0.622	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	124053259	C	T	124053259	3	4	116	1	0	0	0	0	1	0	0	0	7975	527	19	1	1592	1	KALRN	3	124053259	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	84827328	124053259	73969171	16	7860											
MSL2	55167	broad.mit.edu	37	chr3	135870091	135870091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgtgacatttattacActggtgctggtactagcgtt	8	14	10	9	1	0	1	0	1	0	0	0	2	0	1	1	2	4	3	1	2	4	6			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:135870091A>T	ENST00000309993.2	-	2	2364	c.1632T>A	c.(1630-1632)agT>agA	p.S544R	MSL2_ENST00000434835.2_Missense_Mutation_p.S470R	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	544					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CATTTATTACACTGGTGCTGG	0.468																																						uc003eqx.1																			0		p.S544I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1630-1632)agT>agA		Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.							117	114	115					3																	135870091		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870091A>T	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1632T>A	3.37:g.135870091A>T	ENSP00000311827:p.Ser544Arg					MSL2_uc011bmb.1_Missense_Mutation_p.S470R|MSL2_uc021xel.1_Missense_Mutation_p.S470R	p.S544R	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN			1	2365	-			544					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1632T>A	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749992	0.30955	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.73	3.38	0.38709	.	0.229211	0.49916	D	0.000123	T	0.40570	0.1122	L	0.36672	1.1	0.45704	D	0.998614	P	0.41910	0.764	B	0.39094	0.29	T	0.33163	-0.9879	9	0.59425	D	0.04	-6.6316	9.1276	0.36826	0.8525:0.0:0.1475:0.0	.	544	Q9HCI7	MSL2_HUMAN	R	544;470	.	ENSP00000311827:S544R	S	-	3	2	MSL2	137352781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.163000	0.42377	0.994000	0.38892	0.383000	0.25322	AGT		0.468	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		T	135870091	A	T	135870091	3	4	116	1	0	0	0	0	1	0	0	0	9878	156	6	5	105	5	MSL2	3	135870091	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	11816832	135870091	62152339	17	7861											
AFM	173	broad.mit.edu	37	chr4	74361147	74361147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggttgttaccgttacGcggtaggttccattgttgta	6	15	11	9	3	0	0	0	0	0	0	2	0	2	0	3	3	2	7	3	3	4	8	rs372542885		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:74361147G>A	ENST00000226355.3	+	9	1282	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	397	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTACCGTTACGCGGTAGGTTC	0.378																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1189-1191)Gcg>Acg		Homo sapiens afamin (AFM), mRNA.		G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	61	67	65		1189	3.2	0.1	4		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	AFM	NM_001133.2	58	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	397/600	74361147	2,13002	2202	4300	6502	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74361147G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1189G>A	4.37:g.74361147G>A	ENSP00000226355:p.Ala397Thr						p.A397T	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1220	+	Breast(15;0.00102)		397			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1189G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482153	0.26598	2.27E-4	1.16E-4	ENSG00000079557	ENST00000226355	T	0.74002	-0.8	4.01	3.16	0.36331	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (2);	0.504196	0.20120	N	0.098822	T	0.63861	0.2547	M	0.65975	2.015	0.09310	N	1	P	0.48640	0.913	B	0.34038	0.174	T	0.59252	-0.7489	10	0.42905	T	0.14	.	7.7171	0.28710	0.1172:0.0:0.8828:0.0	.	397	P43652	AFAM_HUMAN	T	397	ENSP00000226355:A397T	ENSP00000226355:A397T	A	+	1	0	AFM	74580011	0.006000	0.16342	0.078000	0.20375	0.061000	0.15899	1.584000	0.36589	1.036000	0.39998	0.650000	0.86243	GCG		0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			A	74361147	G	A	74361147	3	1	116	1	0	0	0	0	1	0	0	0	361	1087	38	1	1223	1	AFM	4	74361147	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		74361147	116793129	18	7862											
GRID2	2895	broad.mit.edu	37	chr4	94316790	94316790	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtcacaggtctgaaTgggtcactgactgacaagaa	13	9	10	9	0	3	4	2	3	1	1	4	4	4	4	1	2	0	0	1	2	4	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:94316790T>G	ENST00000282020.4	+	9	1536	c.1278T>G	c.(1276-1278)aaT>aaG	p.N426K	GRID2_ENST00000510992.1_Missense_Mutation_p.N331K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	426					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CAGGTCTGAATGGGTCACTGA	0.433																																						uc011cdt.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1276-1278)aaT>aaG		Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	L-Glutamic Acid(DB00142)						206	197	200					4																	94316790		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94316790T>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1278T>G	4.37:g.94316790T>G	ENSP00000282020:p.Asn426Lys					GRID2_uc011cdu.2_Missense_Mutation_p.N331K	p.N426K	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	8	1536	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	426					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1278T>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729170	0.69074	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.87412	-2.25;-2.25	6.02	-0.664	0.11406	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	D	0.84641	0.0695	10	0.87932	D	0	.	10.5725	0.45209	0.0:0.3096:0.0:0.6904	.	331;426	E9PH24;O43424	.;GRID2_HUMAN	K	426;331	ENSP00000282020:N426K;ENSP00000421257:N331K	ENSP00000282020:N426K	N	+	3	2	GRID2	94535813	0.998000	0.40836	0.996000	0.52242	0.986000	0.74619	0.338000	0.19858	-0.048000	0.13401	-0.263000	0.10527	AAT		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			G	94316790	T	G	94316790	3	3	116	1	0	0	0	0	1	0	0	0	6772	1461	51	5	1312	5	GRID2	4	94316790	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08	19955643	94316790	96837486	19	7863											
ADAM29	11086	broad.mit.edu	37	chr4	175898213	175898213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatttttggtgcaggcGcaaatactgcaagtgagact	11	10	14	6	1	0	1	0	1	0	1	0	4	0	3	0	4	3	3	0	4	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:175898213G>A	ENST00000359240.3	+	5	2207	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	ADAM29_ENST00000514159.1_Missense_Mutation_p.A513T|ADAM29_ENST00000445694.1_Missense_Mutation_p.A513T|ADAM29_ENST00000404450.4_Missense_Mutation_p.A513T|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	513	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A513T(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGTGCAGGCGCAAATACTGC	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.A513T(4)	kidney(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1537-1539)Gca>Aca		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							82	85	84					4																	175898213		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898213G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1537G>A	4.37:g.175898213G>A	ENSP00000352177:p.Ala513Thr					ADAM29_uc003iud.3_Missense_Mutation_p.A513T|ADAM29_uc010irr.3_Missense_Mutation_p.A513T|ADAM29_uc011cki.2_Missense_Mutation_p.A513T|ADAM29_uc021xuo.1_Missense_Mutation_p.A513T	p.A513T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	2207	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	513			Cys-rich.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1537G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761533	0.49468	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	3.48	0.426	0.16479	ADAM, cysteine-rich (2);	0.000000	0.35838	U	0.002959	T	0.52741	0.1753	M	0.90019	3.08	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.47355	-0.9124	9	.	.	.	.	10.1692	0.42900	0.0:0.0:0.4883:0.5117	.	513	Q9UKF5	ADA29_HUMAN	T	513	ENSP00000352177:A513T;ENSP00000414544:A513T;ENSP00000384229:A513T;ENSP00000423517:A513T	.	A	+	1	0	ADAM29	176134788	0.384000	0.25164	0.001000	0.08648	0.002000	0.02628	1.725000	0.38074	0.045000	0.15804	0.643000	0.83706	GCA		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175898213	G	A	175898213	3	1	116	1	0	0	0	0	1	0	0	0	247	1087	38	1	1539	1	ADAM29	4	175898213	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	81581423	175898213	15256063	20	7864											
TRIML1	339976	broad.mit.edu	37	chr4	189060967	189060967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctccggtcccaggtGctgcagagcgaggatgagca	9	5	16	11	2	0	2	0	1	0	1	2	4	2	3	2	4	5	5	2	4	0	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:189060967G>A	ENST00000332517.3	+	1	395	c.255G>A	c.(253-255)gtG>gtA	p.V85V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	85					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTCCCAGGTGCTGCAGAGCG	0.652																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(253-255)gtG>gtA		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							46	46	46					4																	189060967		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060967G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.255G>A	4.37:g.189060967G>A							p.V85V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	0	370	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	85					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.255G>A	CCDS3851.1																																																																																				0.652	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		A	189060967	G	A	189060967	2	1	116	1	0	0	0	0	0	0	0	1	16547	1306	46	3		3	TRIML1	4	189060967	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	13162754	189060967	2093309	21	7865											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcctggggctgcgcaCgggcgaagtgcgcacagcgc	6	5	16	14	5	1	0	1	0	0	0	1	1	1	0	1	3	4	3	1	3	1	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:140769313C>T	ENST00000519479.1	+	1	1862	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCGCACGGGCGAAGTG	0.692																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1861-1863)aCg>aTg		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							31	37	35					5																	140769313		2128	4251	6379	SO:0001583	missense	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769313C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1862C>T	5.37:g.140769313C>T	ENSP00000428288:p.Thr621Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.T621M	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1862	+			625			Cadherin 6.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1862C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432093	0.62844	.	.	ENSG00000253953	ENST00000519479	T	0.58060	0.36	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82462	0.5042	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88814	0.3294	9	0.87932	D	0	.	15.1252	0.72478	0.0:0.8581:0.1419:0.0	.	621;621	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	621	ENSP00000428288:T621M	ENSP00000428288:T621M	T	+	2	0	PCDHGB4	140749497	0.009000	0.17119	0.996000	0.52242	0.830000	0.47004	0.288000	0.18939	2.503000	0.84419	0.563000	0.77884	ACG		0.692	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140769313	C	T	140769313	3	4	116	1	0	0	0	0	1	0	0	0	11565	536	19	1	1864	1	PCDHGB4	5	140769313	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		140769313	40145947	22	7866											
ATP10B	23120	broad.mit.edu	37	chr5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccatgatggtgcaaCgtcggaacaccatcttgttc	8	10	10	13	3	1	1	0	1	1	0	3	2	1	2	2	2	4	3	2	2	2	2	rs376023056		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:160061402C>T	ENST00000327245.5	-	12	2186	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507																																						uc003lym.1																			0		p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1339-1341)cGt>cAt		Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.		C	HIS/ARG	1,3919		0,1,1959	129	130	130		1340	5.5	0.1	5		130	0,8290		0,0,4145	no	missense	ATP10B	NM_025153.2	29	0,1,6104	TT,TC,CC		0.0,0.0255,0.0082	probably-damaging	447/1462	160061402	1,12209	1960	4145	6105	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061402C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1340G>A	5.37:g.160061402C>T	ENSP00000313600:p.Arg447His					ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	p.R447H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2187	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	447					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1340G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182278	0.94885	2.55E-4	0.0	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.64803	-0.12;-0.12	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.983;0.998;0.978;0.999	T	0.81400	-0.0950	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	491;447;419;55;447	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	H	447;55	ENSP00000313600:R447H;ENSP00000431081:R55H	.	R	-	2	0	ATP10B	159993980	1.000000	0.71417	0.087000	0.20705	0.910000	0.53928	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	CGT		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160061402	C	T	160061402	3	4	116	1	0	0	0	0	1	0	0	0	1117	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	19292089	160061402	20853858	23	7867											
C6orf138	442213	broad.mit.edu	37	chr6	47976383	47976383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttacccatggcgaagaaCgggattcccagcagggtgga	11	7	14	9	2	0	1	0	0	0	1	1	4	1	3	2	4	3	2	2	4	4	3	rs181953299	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:47976383C>T	ENST00000339488.4	-	2	927	c.894G>A	c.(892-894)ccG>ccA	p.P298P	PTCHD4_ENST00000543600.1_Silent_p.P281P	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	298	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGGCGAAGAACGGGATTCCCA	0.488																																						uc011dwm.2																			0											c.(892-894)ccG>ccA		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							47	45	46					6																	47976383		1949	4142	6091	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976383C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.894G>A	6.37:g.47976383C>T						PTCHD4_uc011dwn.2_Silent_p.P45P|PTCHD4_uc003ozf.2_Silent_p.P298P	p.P298P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	928	-			298			SSD.		B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.894G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757169	0.15846	.	.	ENSG00000244694	ENST00000398738	.	.	.	6.1	-6.26	0.02033	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44757	-0.9307	4	.	.	.	.	0.1958	0.00139	0.2383:0.2007:0.2286:0.3324	.	.	.	.	I	298	.	.	V	-	1	0	C6orf138	48084342	0.042000	0.20092	0.943000	0.38184	0.999000	0.98932	-0.698000	0.05092	-0.778000	0.04566	0.650000	0.86243	GTT		0.488	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		T	47976383	C	T	47976383	2	4	116	1	0	0	0	0	0	0	0	1	2332	523	19	1		1	C6orf138	6	47976383	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08		47976383	123138684	24	7868											
DEFB114	245928	broad.mit.edu	37	chr6	49928111	49928111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagacagtctcttttacaaCgaccgtaacgtttggtgcaa	12	11	8	10	3	1	1	0	0	1	1	2	2	1	1	1	1	4	3	1	1	5	4	rs146020038	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:49928111C>T	ENST00000322066.3	-	2	103	c.104G>A	c.(103-105)cGt>cAt	p.R35H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	35					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TCTTTTACAACGACCGTAACG	0.353																																						uc011dwp.2																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(103-105)cGt>cAt		Homo sapiens defensin, beta 114 (DEFB114), mRNA.							112	101	105					6																	49928111		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928111C>T	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.104G>A	6.37:g.49928111C>T	ENSP00000312702:p.Arg35His						p.R35H	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			1	104	-	Lung NSC(77;0.042)		35					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.104G>A	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	1.017	-0.686213	0.03328	.	.	ENSG00000177684	ENST00000322066	T	0.11277	2.79	3.55	-7.1	0.01547	.	5.758920	0.00166	N	0.000012	T	0.01287	0.0042	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23726	-1.0180	8	.	.	.	3.5808	5.7254	0.18010	0.4266:0.1681:0.0:0.4053	.	35	Q30KQ6	DB114_HUMAN	H	35	ENSP00000312702:R35H	.	R	-	2	0	DEFB114	50036070	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.669000	0.00398	-4.332000	0.00056	-1.175000	0.01729	CGT		0.353	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		T	49928111	C	T	49928111	3	4	116	1	0	0	0	0	1	0	0	0	4403	536	19	1	108	1	DEFB114	6	49928111	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	1951728	49928111	121186956	25	7869											
CD109	135228	broad.mit.edu	37	chr6	74475666	74475666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattaggtgaaggtaactcGtgctgatggcaaccaactga	12	9	11	9	1	0	3	0	3	0	0	1	3	0	3	2	3	4	3	2	3	5	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:74475666G>A	ENST00000287097.5	+	11	1233	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	CD109_ENST00000437994.2_Missense_Mutation_p.R374H|CD109_ENST00000422508.2_Missense_Mutation_p.R297H			Q6YHK3	CD109_HUMAN	CD109 molecule	374					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGTAACTCGTGCTGATGGC	0.358																																						uc003php.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1120-1122)cGt>cAt		Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.							81	78	79					6																	74475666		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74475666G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1121G>A	6.37:g.74475666G>A	ENSP00000287097:p.Arg374His					CD109_uc003phq.3_Missense_Mutation_p.R374H|CD109_uc010kba.3_Missense_Mutation_p.R297H	p.R374H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			10	1552	+			374					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1121G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	9.881	1.201510	0.22121	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23348	1.91;2.12;1.91	4.69	3.82	0.43975	.	0.487586	0.22940	N	0.053790	T	0.06508	0.0167	L	0.29908	0.895	0.09310	N	0.999999	B;B;B;B	0.26147	0.14;0.143;0.057;0.11	B;B;B;B	0.24155	0.034;0.051;0.019;0.022	T	0.29792	-1.0000	10	0.14252	T	0.57	.	12.1492	0.54040	0.0855:0.0:0.9145:0.0	.	297;374;374;374	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	H	374;297;374	ENSP00000388062:R374H;ENSP00000404475:R297H;ENSP00000287097:R374H	ENSP00000287097:R374H	R	+	2	0	CD109	74532387	0.096000	0.21769	0.073000	0.20177	0.606000	0.37113	1.305000	0.33493	1.324000	0.45282	0.462000	0.41574	CGT		0.358	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74475666	G	A	74475666	3	1	116	1	0	0	0	0	1	0	0	0	2963	1145	40	1	1163	1	CD109	6	74475666	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	24547555	74475666	96639401	26	7870											
TTLL2	83887	broad.mit.edu	37	chr6	167754816	167754816	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtggtggagaaagctgtGagtgtgcgtcctgaagctgc	7	11	16	7	1	1	3	0	2	1	1	2	4	2	3	1	2	4	2	1	2	2	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:167754816G>C	ENST00000239587.5	+	3	1516	c.1428G>C	c.(1426-1428)gtG>gtC	p.V476V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	476					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAAAGCTGTGAGTGTGCGTC	0.512																																						uc003qvs.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1426-1428)gtG>gtC		Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.							125	110	115					6																	167754816		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754816G>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1428G>C	6.37:g.167754816G>C							p.V476V	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	1516	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	476					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1428G>C	CCDS5301.1																																																																																				0.512	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		C	167754816	G	C	167754816	2	2	116	1	0	0	0	0	0	0	0	1	16724	1277	45	5		5	TTLL2	6	167754816	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	93279150	167754816	3360251	27	7871											
PRKAR1B	5575	broad.mit.edu	37	chr7	618975	618975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactggacgggctccagcGcatccgccacggtcagacgc	9	4	12	16	5	1	1	1	0	0	1	3	2	3	2	3	3	2	2	3	3	1	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:618975G>A	ENST00000406797.1	-	9	983	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A270V|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A270V|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A270V|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A270V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	270				A -> R (in Ref. 1; AAC37564). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGCTCCAGCGCATCCGCCAC	0.612																																						uc003siu.2																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(808-810)gCg>gTg		Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.							115	90	99					7																	618975		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:618975G>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.809C>T	7.37:g.618975G>A	ENSP00000385749:p.Ala270Val					PRKAR1B_uc021zyi.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siv.3_Missense_Mutation_p.A270V|PRKAR1B_uc021zyj.1_Missense_Mutation_p.A270V|PRKAR1B_uc021zyk.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.2_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_Non-coding_Transcript	p.A270V	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	8	942	-		Ovarian(82;0.0779)	270	A -> R (in Ref. 1; AAC37564).				Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.809C>T	CCDS34579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.608619|4.608619	0.87258|0.87258	.|.	.|.	ENSG00000188191|ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040|ENST00000400758	T;T;T;T;T;T|.	0.72051|.	-0.62;-0.62;-0.62;-0.62;-0.62;1.53|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.73721|0.73721	0.3623|0.3623	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	B|.	0.41917|.	0.37|.	T|T	0.73020|0.73020	-0.4114|-0.4114	10|5	0.54805|.	T|.	0.06|.	1.4|1.4	17.406|17.406	0.87473|0.87473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	270|.	P31321|.	KAP1_HUMAN|.	V|C	270;270;270;270;270;35;270|131	ENSP00000440449:A270V;ENSP00000444487:A270V;ENSP00000385749:A270V;ENSP00000385349:A270V;ENSP00000353415:A270V;ENSP00000402648:A270V|.	ENSP00000340984:A35V|.	A|R	-|-	2|1	0|0	PRKAR1B|PRKAR1B	585501|585501	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.774000|0.774000	0.43823|0.43823	8.675000|8.675000	0.91195|0.91195	2.390000|2.390000	0.81377|0.81377	0.543000|0.543000	0.68304|0.68304	GCG|CGC		0.612	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			A	618975	G	A	618975	3	1	116	1	0	0	0	0	1	0	0	0	12504	1087	38	1	348	1	PRKAR1B	7	618975	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		618975	158519688	28	7872											
NUPL2	11097	broad.mit.edu	37	chr7	23239787	23239787	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgttgttgttgtttgtagGctttccagtcaataacagca	8	17	10	6	0	1	0	1	0	0	0	2	0	2	0	1	1	2	8	1	1	3	8			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23239787G>A	ENST00000258742.5	+	7	954	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	232					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ttgttTGTAGGCTTTCCAGTC	0.353																																						uc003svu.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e7-1		Homo sapiens nucleoporin like 2 (NUPL2), mRNA.							39	38	39					7																	23239787		2201	4299	6500	SO:0001630	splice_region_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23239787G>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.695-1G>A	7.37:g.23239787G>A						NUPL2_uc003svv.3_Splice_Site|NUPL2_uc011jyw.2_Splice_Site|NUPL2_uc011jyx.2_Splice_Site_p.G4_splice	p.G232_splice	NM_007342	NP_031368	O15504	NUPL2_HUMAN			7	954	+			232					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.695_splice	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037690	0.54896	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.39997	1.08;1.05	5.75	5.75	0.90469	.	0.294727	0.42172	D	0.000751	T	0.59362	0.2188	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.54098	-0.8344	9	.	.	.	.	16.2016	0.82087	0.0:0.1331:0.8669:0.0	.	232	O15504	NUPL2_HUMAN	D	232;257	ENSP00000258742:G232D;ENSP00000401475:G257D	.	G	+	2	0	NUPL2	23206312	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	2.310000	0.43708	2.878000	0.98634	0.650000	0.86243	GGC		0.353	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	Missense_Mutation	A	23239787	G	A	23239787	5	1	116	1	0	0	0	0	0	0	1	0	10775	1217	42	3	721	3	NUPL2	7	23239787	Splice_Site	SNP	G	TCGA-12-0692-01A-01W-0348-08	22620812	23239787	135898876	29	7873											
STK31	56164	broad.mit.edu	37	chr7	23825130	23825130	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttacaatgagcttggaaCgagatcttcttgatgctgag	10	13	10	8	1	2	4	0	3	2	1	3	6	3	5	1	1	4	2	1	1	3	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23825130C>T	ENST00000355870.3	+	18	2301	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonsense_Mutation_p.R728*|STK31_ENST00000428484.1_Nonsense_Mutation_p.R705*|STK31_ENST00000354639.3_Nonsense_Mutation_p.R705*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	728	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.R728*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCTTGGAACGAGATCTTCT	0.403																																						uc003sws.4																			1	Substitution - Nonsense(1)	p.R728*(2)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2182-2184)Cga>Tga		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							199	189	193					7																	23825130		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23825130C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2182C>T	7.37:g.23825130C>T	ENSP00000348132:p.Arg728*					STK31_uc003swt.4_Nonsense_Mutation_p.R705*|STK31_uc011jze.2_Nonsense_Mutation_p.R728*|STK31_uc010kuq.3_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank	p.R728*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			17	2249	+			728			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.2182C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	43	9.903888	0.99292	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.24	4.35	0.52113	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.124	12.7285	0.57185	0.3181:0.6819:0.0:0.0	.	.	.	.	X	728;728;705;705	.	ENSP00000346660:R705X	R	+	1	2	STK31	23791655	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	1.676000	0.37565	1.287000	0.44583	0.650000	0.86243	CGA		0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23825130	C	T	23825130	4	4	116	1	0	0	0	0	0	1	0	0	15295	528	19	1	2252	1	STK31	7	23825130	Nonsense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	585343	23825130	135313533	30	7874											
WNT2	7472	broad.mit.edu	37	chr7	116960726	116960726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtccactcggccaCgccctggctaatggcacgca	6	9	10	16	3	1	0	0	0	1	0	3	0	2	0	3	3	1	4	3	3	1	2	rs371599061		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:116960726C>T	ENST00000265441.3	-	2	504	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	69					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCGGCCACGCCCTGGCTA	0.602																																						uc003viz.3																			0		p.G68D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(205-207)Gtg>Atg		Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.		C	MET/VAL	0,4406		0,0,2203	74	58	63		205	4.5	1	7		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	69/361	116960726	1,13005	2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960726C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.205G>A	7.37:g.116960726C>T	ENSP00000265441:p.Val69Met					WNT2_uc003vja.3_5'UTR	p.V69M	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	505	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		69					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.205G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934831	0.52866	0.0	1.16E-4	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76578	-1.03;-1.03	5.42	4.53	0.55603	.	0.221138	0.45606	D	0.000346	T	0.69655	0.3135	L	0.41492	1.28	0.40066	D	0.975954	B	0.27823	0.19	B	0.26094	0.066	T	0.71699	-0.4514	10	0.66056	D	0.02	.	13.0278	0.58825	0.0:0.9226:0.0:0.0774	.	69	P09544	WNT2_HUMAN	M	69	ENSP00000265441:V69M;ENSP00000419466:V69M	ENSP00000265441:V69M	V	-	1	0	WNT2	116747962	0.008000	0.16893	0.957000	0.39632	0.125000	0.20455	2.284000	0.43478	2.691000	0.91804	0.655000	0.94253	GTG		0.602	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116960726	C	T	116960726	3	4	116	1	0	0	0	0	1	0	0	0	17383	536	19	1	893	1	WNT2	7	116960726	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	93135596	116960726	42177937	31	7875											
MGAM	8972	broad.mit.edu	37	chr7	141759386	141759386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggctgatgggatgcggGtcatcctcattctggttagt	7	13	14	7	1	3	2	2	2	1	0	4	3	4	3	1	4	1	2	1	4	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:141759386G>A	ENST00000549489.2	+	32	4029	c.3934G>A	c.(3934-3936)Gtc>Atc	p.V1312I	MGAM_ENST00000475668.2_Missense_Mutation_p.V1312I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1312	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGATGCGGGTCATCCTCAT	0.507																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3934-3936)Gtc>Atc		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						66	63	64					7																	141759386		2043	4195	6238	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759386G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3934G>A	7.37:g.141759386G>A	ENSP00000447378:p.Val1312Ile						p.V1312I	NM_004668	NP_004659	O43451	MGA_HUMAN			31	3988	+	Melanoma(164;0.0272)		1312			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3934G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.297508	0.40694	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.94497	-3.44	4.21	2.32	0.28847	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.90438	0.7006	L	0.39326	1.205	0.26735	N	0.970511	B	0.21071	0.051	B	0.28232	0.087	T	0.82983	-0.0186	9	0.72032	D	0.01	.	5.5769	0.17228	0.0987:0.0:0.4215:0.4798	.	1312	O43451	MGA_HUMAN	I	1312;1312;1189	ENSP00000447378:V1312I	ENSP00000316431:V1189I	V	+	1	0	MGAM	141405855	0.997000	0.39634	0.999000	0.59377	0.828000	0.46876	2.400000	0.44504	0.222000	0.20900	0.194000	0.17425	GTC		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141759386	G	A	141759386	3	1	116	1	0	0	0	0	1	0	0	0	9541	1261	44	3	4056	3	MGAM	7	141759386	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	24798660	141759386	17379277	32	7876											
STC1	6781	broad.mit.edu	37	chr8	23709003	23709003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttggaggtgaccccGttggcgatgcattttaagct	9	11	12	9	2	0	2	0	1	0	1	0	4	0	3	3	3	2	3	3	3	2	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:23709003G>A	ENST00000290271.2	-	3	586	c.303C>T	c.(301-303)aaC>aaT	p.N101N	STC1_ENST00000524323.1_Silent_p.N32N	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	101					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGTGACCCCGTTGGCGATGC	0.517																																						uc003xdw.1																			0		p.A100V(1)|p.A100T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(301-303)aaC>aaT		Homo sapiens stanniocalcin 1 (STC1), mRNA.							132	115	121					8																	23709003		2203	4300	6503	SO:0001819	synonymous_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709003G>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.303C>T	8.37:g.23709003G>A							p.N101N	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	2	587	-		Prostate(55;0.055)|Breast(100;0.116)	101					B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	c.303C>T	CCDS6043.1																																																																																				0.517	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			A	23709003	G	A	23709003	2	1	116	1	0	0	0	0	0	0	0	1	15274	1136	40	1		1	STC1	8	23709003	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08		23709003	122655019	33	7877											
UNC5D	137970	broad.mit.edu	37	chr8	35407016	35407016	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acgtctctgaagagactctgGacgagagctcaggtaggagc	11	7	14	9	2	3	3	1	1	2	2	4	7	3	5	0	3	2	2	0	3	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:35407016G>C	ENST00000404895.2	+	2	638	c.310G>C	c.(310-312)Gac>Cac	p.D104H	UNC5D_ENST00000420357.1_Missense_Mutation_p.D104H|UNC5D_ENST00000453357.2_Missense_Mutation_p.D99H|UNC5D_ENST00000287272.2_Missense_Mutation_p.D104H|UNC5D_ENST00000416672.1_Missense_Mutation_p.D104H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	104	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAGACTCTGGACGAGAGCTC	0.522																																						uc003xjr.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(310-312)Gac>Cac		Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.							41	36	37					8																	35407016		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35407016G>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.310G>C	8.37:g.35407016G>C	ENSP00000385143:p.Asp104His					UNC5D_uc003xjs.2_Missense_Mutation_p.D99H	p.D104H	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	1	638	+			104			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.310G>C	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523498	0.85600	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	6.07	6.07	0.98685	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.927	T	0.68934	-0.5278	10	0.87932	D	0	-25.9862	20.6593	0.99626	0.0:0.0:1.0:0.0	.	99;104	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	H	104;104;104;104;99	ENSP00000385143:D104H;ENSP00000392739:D104H;ENSP00000287272:D104H;ENSP00000412652:D104H;ENSP00000394303:D99H	ENSP00000287272:D104H	D	+	1	0	UNC5D	35526558	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	9.490000	0.97952	2.885000	0.99019	0.655000	0.94253	GAC		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			C	35407016	G	C	35407016	3	2	116	1	0	0	0	0	1	0	0	0	16992	1174	41	5	316	5	UNC5D	8	35407016	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	11698013	35407016	110957006	34	7878											
PTDSS1	9791	broad.mit.edu	37	chr8	97285591	97285591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttattttcttctttcttAtcatcagtgtgttagctttc	5	23	5	8	0	5	0	2	0	3	0	6	0	5	0	0	0	1	3	0	0	3	8			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:97285591A>G	ENST00000517309.1	+	2	570	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	82					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTCTTTCTTATCATCAGTGT	0.373																																						uc003yht.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(244-246)Atc>Gtc		Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	Phosphatidylserine(DB00144)						180	170	173					8																	97285591		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97285591A>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.244A>G	8.37:g.97285591A>G	ENSP00000430548:p.Ile82Val					PTDSS1_uc003yhu.1_5'UTR	p.I82V	NM_014754	NP_055569	P48651	PTSS1_HUMAN			1	346	+	Breast(36;6.18e-05)		82					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.244A>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671978	0.29693	.	.	ENSG00000156471	ENST00000517309	T	0.39229	1.09	5.54	5.54	0.83059	.	0.104613	0.64402	D	0.000003	T	0.21550	0.0519	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11916	-1.0568	10	0.18276	T	0.48	-33.5173	13.3018	0.60330	1.0:0.0:0.0:0.0	.	82	P48651	PTSS1_HUMAN	V	82	ENSP00000430548:I82V	ENSP00000337331:I82V	I	+	1	0	PTDSS1	97354767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.125000	0.64715	2.326000	0.78906	0.533000	0.62120	ATC		0.373	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			G	97285591	A	G	97285591	3	3	116	1	0	0	0	0	1	0	0	0	12736	449	16	4	250	4	PTDSS1	8	97285591	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	61878575	97285591	49078431	35	7879											
TEK	7010	broad.mit.edu	37	chr9	27217701	27217701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggaaggctcccagtgCgctggatggccatcgagtca	8	7	14	12	2	1	0	1	0	0	0	4	3	3	2	3	4	1	2	3	4	1	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:27217701C>T	ENST00000380036.4	+	19	3449	c.3007C>T	c.(3007-3009)Cgc>Tgc	p.R1003C	TEK_ENST00000519097.1_Missense_Mutation_p.R855C|TEK_ENST00000406359.4_Missense_Mutation_p.R960C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1003	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GCTCCCAGTGCGCTGGATGGC	0.483																																						uc011lno.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2878-2880)Cgc>Tgc		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							111	106	108					9																	27217701		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27217701C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3007C>T	9.37:g.27217701C>T	ENSP00000369375:p.Arg1003Cys					TEK_uc003zqi.4_Missense_Mutation_p.R1003C|TEK_uc011lnp.2_Missense_Mutation_p.R855C	p.R960C	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	17	3320	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1003			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2878C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043329	0.75732	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83755	-1.76;-1.76;-1.76	4.27	4.27	0.50696	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000766	D	0.90621	0.7059	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91814	0.5462	10	0.87932	D	0	.	13.8466	0.63470	0.153:0.847:0.0:0.0	.	855;1036;1003	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	C	855;1003;960	ENSP00000430686:R855C;ENSP00000369375:R1003C;ENSP00000383977:R960C	ENSP00000369375:R1003C	R	+	1	0	TEK	27207701	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.619000	0.61218	2.357000	0.79964	0.591000	0.81541	CGC		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27217701	C	T	27217701	3	4	116	1	0	0	0	0	1	0	0	0	15748	768	27	1	3081	1	TEK	9	27217701	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		27217701	113995730	36	7880											
ZNF618	114991	broad.mit.edu	37	chr9	116811355	116811355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggacattcgcgacagCggtgaccttgtgcaccactg	7	8	14	12	4	0	1	0	1	0	0	1	3	0	2	2	3	3	1	2	3	0	2	rs376102134		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:116811355C>T	ENST00000374126.5	+	15	1872	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	ZNF618_ENST00000288466.7_Silent_p.S498S|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGCGACAGCGGTGACCTTG	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		24289	0		0	False		,,,				2504	0					uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1771-1773)agC>agT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.		C		1,4383	2.1+/-5.4	0,1,2191	72	72	72		1494	-1.8	1	9		72	0,8562		0,0,4281	no	coding-synonymous	ZNF618	NM_133374.2		0,1,6472	TT,TC,CC		0.0,0.0228,0.0077		498/862	116811355	1,12945	2192	4281	6473	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811355C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1773C>T	9.37:g.116811355C>T						ZNF618_uc004bic.3_Silent_p.S498S|ZNF618_uc011lxi.2_Silent_p.S558S|ZNF618_uc011lxj.2_Silent_p.S559S|ZNF618_uc010mvb.3_Silent_p.S181S	p.S591S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			14	1872	+			591					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1773C>T																																																																																					0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116811355	C	T	116811355	2	4	116	1	0	0	0	0	0	0	0	1	18039	767	27	1		1	ZNF618	9	116811355	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	89593654	116811355	24402076	37	7881											
RABGAP1	23637	broad.mit.edu	37	chr9	125748579	125748579	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttacttaggctgtgcctcGgtaaatgctcccaggagtga	9	11	11	10	1	0	1	0	1	0	0	2	2	1	2	2	3	3	3	2	3	4	3	rs561902288		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:125748579G>T	ENST00000373647.4	+	4	605	c.471G>T	c.(469-471)tcG>tcT	p.S157S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	157	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCTGTGCCTCGGTAAATGCTC	0.453																																						uc011lzh.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(469-471)tcG>tcT		Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.							161	147	152					9																	125748579		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125748579G>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.471G>T	9.37:g.125748579G>T						RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.S157S	p.S157S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			3	605	+			157			PID.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.471G>T	CCDS6848.2																																																																																				0.453	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		T	125748579	G	T	125748579	2	4	116	1	0	0	0	0	0	0	0	1	12964	1103	39	5		5	RABGAP1	9	125748579	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	8937224	125748579	15464852	38	7882											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714648	138714648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctagacacgatgctcctcGgtctcccttccccccgttca	5	11	6	19	3	2	1	1	0	1	1	7	2	5	1	6	1	1	2	6	1	1	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:138714648G>A	ENST00000389532.4	-	11	1923	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P342L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P631L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	620					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCTCCTCGGTCTCCCTTC	0.542																																						uc004cgr.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1858-1860)cCg>cTg		Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.							60	66	64					9																	138714648		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714648G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1859C>T	9.37:g.138714648G>A	ENSP00000374183:p.Pro620Leu					CAMSAP1_uc004cgq.4_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P342L	p.P620L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1859	-			620					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1859C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.227016	0.01518	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.12984	2.63;2.64;2.63	5.3	2.07	0.26955	.	0.341445	0.32041	N	0.006672	T	0.09512	0.0234	L	0.44542	1.39	0.19575	N	0.999968	B;B	0.12013	0.004;0.005	B;B	0.06405	0.001;0.002	T	0.29549	-1.0008	10	0.87932	D	0	-20.5949	1.2936	0.02065	0.1877:0.113:0.3766:0.3227	.	620;631	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	620;342;631	ENSP00000374183:P620L;ENSP00000312463:P342L;ENSP00000386420:P631L	ENSP00000312463:P342L	P	-	2	0	CAMSAP1	137854469	0.940000	0.31905	0.036000	0.18154	0.059000	0.15707	2.312000	0.43726	0.593000	0.29745	0.561000	0.74099	CCG		0.542	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		A	138714648	G	A	138714648	3	1	116	1	0	0	0	0	1	0	0	0	2611	1116	39	2	2977	2	CAMSAP1	9	138714648	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	12966069	138714648	2498783	39	7883											
CCAR1	55749	broad.mit.edu	37	chr10	70496806	70496806	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagctgcattacaacagGtaaatctttaatatgtctta	14	13	6	8	0	2	0	0	0	2	0	2	0	2	0	0	1	5	4	0	1	7	6			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:70496806G>C	ENST00000265872.6	+	3	365		c.e3+1		Y_RNA_ENST00000352915.2_RNA|CCAR1_ENST00000543719.1_Splice_Site|CCAR1_ENST00000535016.1_Splice_Site	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTACAACAGGTAAATCTTTA	0.393																																						uc001joo.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.e3+1		Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.							29	28	28					10																	70496806		2203	4300	6503	SO:0001630	splice_region_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70496806G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.246+1G>C	10.37:g.70496806G>C						CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.2_Splice_Site	p.Q82_splice	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			3	365	+			82					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Splice_Site	SNP	ENST00000265872.6	37	c.246_splice	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764763	0.69878	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCAR1	70166812	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	8.806000	0.91930	2.748000	0.94277	0.655000	0.94253	.		0.393	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	Intron	C	70496806	G	C	70496806	5	2	116	1	0	0	0	0	0	0	1	0	2730	1275	44	5	253	5	CCAR1	10	70496806	Splice_Site	SNP	G	TCGA-12-0692-01A-01W-0348-08		70496806	65037941	40	7884											
CRTAC1	55118	broad.mit.edu	37	chr10	99664517	99664517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtccactttgccatcaCggttgaagtcagccagggcg	8	9	12	12	3	2	1	2	1	0	0	3	2	3	1	3	2	2	1	3	2	1	2	rs149424033		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:99664517C>T	ENST00000370597.3	-	7	1260	c.905G>A	c.(904-906)cGt>cAt	p.R302H	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R302H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R302H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	302						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R302H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTTGCCATCACGGTTGAAGTC	0.617																																						uc001kou.2																			1	Substitution - Missense(1)	p.R302H(2)	endometrium(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(904-906)cGt>cAt		Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120	115	117		905,905	5	0.8	10	dbSNP_134	117	0,8600		0,0,4300	no	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	302/646,302/662	99664517	1,13005	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99664517C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.905G>A	10.37:g.99664517C>T	ENSP00000359629:p.Arg302His					CRTAC1_uc001kov.3_Missense_Mutation_p.R302H|CRTAC1_uc001kot.2_Missense_Mutation_p.R92H	p.R302H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1261	-		Colorectal(252;0.24)	302					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.905G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000570	0.54254	2.27E-4	0.0	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.96	4.96	0.65561	.	0.123752	0.51477	D	0.000086	T	0.34919	0.0914	L	0.47716	1.5	0.47441	D	0.999423	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.62184	0.825;0.86;0.899	T	0.02047	-1.1223	10	0.38643	T	0.18	-4.5959	13.5628	0.61799	0.0:0.9229:0.0:0.0771	.	302;302;198	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	H	198;302;302;294;302	ENSP00000408445:R198H;ENSP00000359629:R302H;ENSP00000298819:R302H;ENSP00000310810:R294H;ENSP00000359623:R302H	ENSP00000298819:R302H	R	-	2	0	CRTAC1	99654507	0.977000	0.34250	0.820000	0.32676	0.958000	0.62258	4.887000	0.63156	2.303000	0.77524	0.561000	0.74099	CGT		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		T	99664517	C	T	99664517	3	4	116	1	0	0	0	0	1	0	0	0	3896	536	19	1	1116	1	CRTAC1	10	99664517	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	29167711	99664517	35870230	41	7885											
RHOG	391	broad.mit.edu	37	chr11	3849147	3849147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgacgaaaacgttggtCtgagggtaggagagtgtacg	12	8	16	5	3	1	4	0	2	1	2	1	6	1	4	0	3	2	3	0	3	4	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:3849147C>T	ENST00000351018.4	-	2	379	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOG_ENST00000396979.1_Silent_p.Q74Q|RHOG_ENST00000396978.1_Silent_p.Q74Q|RHOG_ENST00000533217.1_Silent_p.Q74Q	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	74					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAACGTTGGTCTGAGGGTAGG	0.602																																						uc021qcn.1																			0				endometrium(2)	2						c.(220-222)caG>caA		Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA.							87	71	76					11																	3849147		2201	4298	6499	SO:0001819	synonymous_variant	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849147C>T	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"ras homolog gene family, member G (rho G)"	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.222G>A	11.37:g.3849147C>T						RHOG_uc001lyu.2_Silent_p.Q74Q	p.Q74Q	NM_001665	NP_001656	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	0	222	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	74					P35238|Q8NI04	Silent	SNP	ENST00000351018.4	37	c.222G>A	CCDS7748.1																																																																																				0.602	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		T	3849147	C	T	3849147	2	4	116	1	0	0	0	0	0	0	0	1	13339	912	32	3		3	RHOG	11	3849147	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08		3849147	131157369	42	7886											
OR51F1	256892	broad.mit.edu	37	chr11	4790709	4790709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtgtaatcatcagaagacCcatttgaatgattctggaat	14	12	8	7	1	3	4	2	2	1	2	3	5	3	5	1	1	0	1	1	1	4	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:4790709C>A	ENST00000380383.1	-	1	459	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.G147C			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGAAGACCCATTTGAATG	0.433																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(439-441)Ggt>Tgt		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							95	97	96					11																	4790709		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790709C>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.460G>T	11.37:g.4790709C>A	ENSP00000369744:p.Gly154Cys						p.G147C	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	439	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	147						Missense_Mutation	SNP	ENST00000380383.1	37	c.439G>T		.	.	.	.	.	.	.	.	.	.	C	7.634	0.679448	0.14907	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.35236	1.32;1.32	5.03	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.719554	0.12765	N	0.440982	T	0.62405	0.2425	M	0.90483	3.12	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.51639	-0.8680	10	0.87932	D	0	.	8.84	0.35135	0.0:0.6049:0.0:0.3951	.	154	A6NGY5	O51F1_HUMAN	C	147;154	ENSP00000345163:G147C;ENSP00000369744:G154C	ENSP00000345163:G147C	G	-	1	0	OR51F1	4747285	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.447000	0.21710	0.050000	0.15949	-0.150000	0.13652	GGT		0.433	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		A	4790709	C	A	4790709	3	1	116	1	0	0	0	0	1	0	0	0	11096	623	22	5	502	5	OR51F1	11	4790709	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	941562	4790709	130215807	43	7887											
SAPS3	55291	broad.mit.edu	37	chr11	68315674	68315674	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaagatgtgctgaatgTgagtagaattctgacctgct	11	11	12	7	0	1	5	0	3	1	2	1	5	1	5	1	1	2	4	1	1	4	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:68315674T>G	ENST00000393800.2	+	5	806		c.e5+2		PPP6R3_ENST00000529710.1_Splice_Site|PPP6R3_ENST00000527403.2_Splice_Site|PPP6R3_ENST00000534534.1_Splice_Site|PPP6R3_ENST00000265636.5_Splice_Site|PPP6R3_ENST00000265637.4_Splice_Site|PPP6R3_ENST00000393801.3_Splice_Site|PPP6R3_ENST00000524845.1_Splice_Site|PPP6R3_ENST00000393799.2_Splice_Site|PPP6R3_ENST00000524904.1_Splice_Site	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3						regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGCTGAATGTGAGTAGAATT	0.507																																						uc001onv.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e5+2		Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.							140	135	137					11																	68315674		2200	4294	6494	SO:0001630	splice_region_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68315674T>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.552+2T>G	11.37:g.68315674T>G						PPP6R3_uc010rqb.1_Splice_Site_p.N93_splice|PPP6R3_uc001onw.3_Splice_Site_p.N184_splice|PPP6R3_uc001ony.4_Splice_Site_p.N184_splice|PPP6R3_uc001onx.3_Splice_Site_p.N184_splice|PPP6R3_uc009ysh.3_Splice_Site_p.N184_splice|PPP6R3_uc001onu.3_Splice_Site_p.N184_splice|PPP6R3_uc010rqc.2_Splice_Site_p.N93_splice	p.N184_splice	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN			5	819	+			184					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Splice_Site	SNP	ENST00000393800.2	37	c.552_splice	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627223	0.87560	.	.	ENSG00000110075	ENST00000393799;ENST00000413788;ENST00000393800;ENST00000529907;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7793	0.69754	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP6R3	68072250	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.745000	0.85046	2.093000	0.63338	0.459000	0.35465	.		0.507	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	Intron	G	68315674	T	G	68315674	5	3	116	1	0	0	0	0	0	0	1	0	13838	1710	59	5	564	5	SAPS3	11	68315674	Splice_Site	SNP	T	TCGA-12-0692-01A-01W-0348-08	63524965	68315674	66690842	44	7888											
PCF11	51585	broad.mit.edu	37	chr11	82880169	82880169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctgcgattaggtttgAtggacctcatggtcagccag	8	10	15	8	1	2	1	2	1	0	0	2	3	2	2	2	5	2	2	2	5	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:82880169A>T	ENST00000298281.4	+	8	3244	c.2792A>T	c.(2791-2793)gAt>gTt	p.D931V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	931	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTAGGTTTGATGGACCTCAT	0.537																																						uc001ozx.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2791-2793)gAt>gTt		Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.							59	59	59					11																	82880169		1913	4130	6043	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880169A>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2792A>T	11.37:g.82880169A>T	ENSP00000298281:p.Asp931Val					PCF11_uc010rsu.1_Missense_Mutation_p.D1062V	p.D931V	NM_015885	NP_056969	O94913	PCF11_HUMAN			7	3137	+			931			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2792A>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629507	0.28978	.	.	ENSG00000165494	ENST00000298281	T	0.27256	1.68	6.07	6.07	0.98685	.	0.098040	0.45361	D	0.000379	T	0.16385	0.0394	N	0.19112	0.55	0.50039	D	0.999841	B	0.20052	0.041	B	0.16722	0.016	T	0.13710	-1.0499	9	.	.	.	-19.0229	11.4423	0.50105	0.8343:0.0:0.0:0.1657	.	931	O94913	PCF11_HUMAN	V	931	ENSP00000298281:D931V	.	D	+	2	0	PCF11	82557817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.105000	0.71505	2.326000	0.78906	0.533000	0.62120	GAT		0.537	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		T	82880169	A	T	82880169	3	4	116	1	0	0	0	0	1	0	0	0	11573	333	12	5	2822	5	PCF11	11	82880169	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	14564495	82880169	52126347	45	7889											
CNTN5	53942	broad.mit.edu	37	chr11	100211381	100211382	+	Splice_Site	INS	-	-	GT																															tgcaaccaccaagaaatcccINSgtaagtgacctgggcttttt																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:100211381_100211382insGT	ENST00000524871.1	+	22	3207	c.2917_2917insGT	c.(2917-2919)cct>GTcct	p.P973fs	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Splice_Site_p.P973fs|CNTN5_ENST00000279463.3_Splice_Site_p.P973fs|CNTN5_ENST00000418526.2_Splice_Site_p.P899fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	973					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.?(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAAGAAATCCCGTAAGTGACCT	0.441																																						uc001pga.3																			2	Unknown(2)	p.?(2)	lung(2)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e22+1		Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211381_100211382insGT	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2917+1->GT	11.37:g.100211382_100211383dupGT						CNTN5_uc021qpb.1_Splice_Site_p.P973_splice|CNTN5_uc021qpc.1_Splice_Site_p.P899_splice|CNTN5_uc010ruk.2_Splice_Site_p.P244_splice	p.P973_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	22	3421	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	973					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	INS	ENST00000524871.1	37	c.2917_splice	CCDS53696.1																																																																																				0.441	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Frame_Shift_Ins	GT	100211382	-	GT	100211381	8	5	116	1	0	1	1	0	0	0	1	0	3644	666	23	0	2995	0	CNTN5	11	100211381	Splice_Site	INS	-	TCGA-12-0692-01A-01W-0348-08	17331212	100211381	34795135	46	7890											
ANO2	57101	broad.mit.edu	37	chr12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatagaacactccatagcGcgcccattcttgatatagca	12	11	6	12	2	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	6	7	rs372991029		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:5908716G>A	ENST00000356134.5	-	11	1074	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	ANO2_ENST00000327087.8_Missense_Mutation_p.R334C|ANO2_ENST00000546188.1_Missense_Mutation_p.R335C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	339					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1000-1002)Cgc>Tgc		Homo sapiens anoctamin 2 (ANO2), mRNA.		G	CYS/ARG	1,3711		0,1,1855	78	71	73		1000	5.9	1	12		73	0,8220		0,0,4110	no	missense	ANO2	NM_020373.2	180	0,1,5965	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	334/999	5908716	1,11931	1856	4110	5966	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908716G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1003C>T	12.37:g.5908716G>A	ENSP00000348453:p.Arg335Cys						p.R334C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			9	1072	-			339					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	11.97	1.796665	0.31777	2.69E-4	0.0	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.71461	-0.57;-0.57;-0.57	5.92	5.92	0.95590	.	0.048093	0.85682	D	0.000000	T	0.73369	0.3578	M	0.84948	2.725	0.58432	D	0.999999	P	0.36438	0.553	B	0.35353	0.201	T	0.76790	-0.2829	10	0.62326	D	0.03	.	12.8416	0.57806	0.0:0.0:0.745:0.255	.	334	Q9NQ90-3	.	C	334;335;335;339	ENSP00000314048:R334C;ENSP00000348453:R335C;ENSP00000440981:R335C	ENSP00000314048:R334C	R	-	1	0	ANO2	5778977	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.647000	0.54403	2.810000	0.96702	0.585000	0.79938	CGC		0.423	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5908716	G	A	5908716	3	1	116	1	0	0	0	0	1	0	0	0	697	1087	38	1	2064	1	ANO2	12	5908716	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		5908716	127943179	47	7891											
ABCC9	10060	broad.mit.edu	37	chr12	21965043	21965043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtctagaacgtagtGtgtgcagtggtaatttggaa	12	13	13	3	1	1	2	0	1	1	1	1	3	1	3	0	2	2	3	0	2	6	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:21965043G>T	ENST00000261201.4	-	34	4150	c.4151C>A	c.(4150-4152)aCa>aAa	p.T1384K	ABCC9_ENST00000261200.4_Missense_Mutation_p.T1384K|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1348K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1384	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGAACGTAGTGTGTGCAGTGG	0.358																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4150-4152)aCa>aAa		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						230	199	210					12																	21965043		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21965043G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4151C>A	12.37:g.21965043G>T	ENSP00000261201:p.Thr1384Lys					ABCC9_uc001rfi.1_Missense_Mutation_p.T1384K	p.T1384K	NM_020297	NP_064693	O60706	ABCC9_HUMAN			33	4171	-			1384			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4151C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948896	0.53186	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	N	0.12887	0.27	0.58432	D	0.999999	D;D	0.67145	0.996;0.995	D;D	0.70016	0.967;0.911	D	0.92414	0.5940	10	0.56958	D	0.05	-15.7741	12.6125	0.56558	0.0802:0.0:0.9198:0.0	.	1384;1384	O60706;O60706-2	ABCC9_HUMAN;.	K	1384;1011;1384;1348	ENSP00000261200:T1384K;ENSP00000440521:T1011K;ENSP00000261201:T1384K;ENSP00000261202:T1348K	ENSP00000261200:T1384K	T	-	2	0	ABCC9	21856310	1.000000	0.71417	0.980000	0.43619	0.957000	0.61999	6.296000	0.72751	2.609000	0.88269	0.650000	0.86243	ACA		0.358	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21965043	G	T	21965043	3	4	116	1	0	0	0	0	1	0	0	0	59	1377	48	5	660	5	ABCC9	12	21965043	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	16056327	21965043	111886852	48	7892											
PIWIL1	9271	broad.mit.edu	37	chr12	130847606	130847606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgtgtaccgcgatggcgtAggagacggccagctgaaaac	11	6	14	10	5	0	2	0	1	0	1	1	4	0	2	2	3	3	3	2	3	4	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:130847606A>G	ENST00000245255.3	+	18	2384	c.2112A>G	c.(2110-2112)gtA>gtG	p.V704V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	704	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCGATGGCGTAGGAGACGGCC	0.478																																						uc001uik.3																			0		p.G703G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2110-2112)gtA>gtG		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							117	115	116					12																	130847606		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847606A>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2112A>G	12.37:g.130847606A>G						PIWIL1_uc001uij.2_Silent_p.V704V	p.V704V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	17	2383	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		704			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.2112A>G	CCDS9268.1																																																																																				0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			G	130847606	A	G	130847606	2	3	116	1	0	0	0	0	0	0	0	1	11957	407	15	4		4	PIWIL1	12	130847606	Silent	SNP	A	TCGA-12-0692-01A-01W-0348-08	108882563	130847606	3004289	49	7893											
FLT3	2322	broad.mit.edu	37	chr13	28597589	28597589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcttcttccagcctTttttggttttcatattcaat	5	21	3	12	0	4	0	2	0	2	0	7	0	7	0	4	1	1	1	4	1	2	9			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:28597589T>A	ENST00000241453.7	-	19	2397	c.2316A>T	c.(2314-2316)aaA>aaT	p.K772N	FLT3_ENST00000380982.4_Missense_Mutation_p.K772N|FLT3_ENST00000537084.1_Missense_Mutation_p.K772N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCCAGCCTTTTTTGGTTTT	0.348			"Mis, O"		"AML, ALL"																																	uc001urw.3				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2314-2316)aaA>aaT		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						133	121	125					13																	28597589		2202	4300	6502	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28597589T>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2316A>T	13.37:g.28597589T>A	ENSP00000241453:p.Lys772Asn					FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.K772N	p.K772N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	18	2398	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	772			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2316A>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154392	0.57259	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	5.28	-0.456	0.12190	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074878	0.56097	D	0.000025	D	0.84316	0.5445	L	0.34521	1.04	0.31174	N	0.702912	D;P	0.56035	0.974;0.676	P;B	0.50659	0.647;0.173	T	0.81726	-0.0801	10	0.30854	T	0.27	.	10.1459	0.42762	0.0:0.4128:0.0:0.5872	.	772;772	P36888-2;P36888	.;FLT3_HUMAN	N	772	ENSP00000241453:K772N;ENSP00000370369:K772N;ENSP00000438139:K772N	ENSP00000241453:K772N	K	-	3	2	FLT3	27495589	0.699000	0.27786	0.992000	0.48379	0.929000	0.56500	0.903000	0.28475	-0.207000	0.10187	-0.250000	0.11733	AAA		0.348	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			A	28597589	T	A	28597589	3	1	116	1	0	0	0	0	1	0	0	0	5942	1838	64	5	689	5	FLT3	13	28597589	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08		28597589	86572289	50	7894											
FAM70B	348013	broad.mit.edu	37	chr13	114507939	114507939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagatcctggcctacGcaggcttccgcctgacgccc	6	6	10	19	3	0	2	0	1	0	1	2	2	2	2	6	2	2	3	6	2	1	2	rs368613950		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:114507939G>A	ENST00000375353.3	+	8	778	c.751G>A	c.(751-753)Gca>Aca	p.A251T	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	251						integral component of membrane (GO:0016021)											CCTGGCCTACGCAGGCTTCCG	0.677																																						uc001vuh.3																			0				upper_aerodigestive_tract(1)	1						c.(751-753)Gca>Aca		Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.		G	THR/ALA	0,4404		0,0,2202	71	69	70		751	-8.4	0	13		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM70B	NM_182614.2	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	251/327	114507939	1,13003	2202	4300	6502	SO:0001583	missense	348013					integral to membrane		g.chr13:114507939G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.751G>A	13.37:g.114507939G>A	ENSP00000364502:p.Ala251Thr						p.A251T	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		7	778	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	251						Missense_Mutation	SNP	ENST00000375353.3	37	c.751G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	G	1.125	-0.654029	0.03480	0.0	1.16E-4	ENSG00000184497	ENST00000375353	T	0.44083	0.93	4.46	-8.37	0.00976	.	.	.	.	.	T	0.14227	0.0344	N	0.20530	0.585	0.09310	N	1	B	0.24963	0.115	B	0.17433	0.018	T	0.35624	-0.9781	9	0.02654	T	1	-4.2614	0.7311	0.00957	0.285:0.1117:0.2839:0.3194	.	251	Q8WV15	FA70B_HUMAN	T	251	ENSP00000364502:A251T	ENSP00000364502:A251T	A	+	1	0	FAM70B	113606004	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	-0.660000	0.05317	-1.382000	0.02109	-0.275000	0.10095	GCA		0.677	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		A	114507939	G	A	114507939	3	1	116	1	0	0	0	0	1	0	0	0	5606	1087	38	1	781	1	FAM70B	13	114507939	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	85910350	114507939	661939	51	7895											
EDDM3B	64184	broad.mit.edu	37	chr14	21238424	21238424	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattcatgaaacagcactacTtaagtccaagtcgagaattc	16	10	6	9	1	1	2	1	1	0	1	4	3	2	2	1	0	3	1	1	0	6	4	rs201861023		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:21238424T>G	ENST00000326783.3	+	2	213	c.115T>G	c.(115-117)Tta>Gta	p.L39V		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	39						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGCACTACTTAAGTCCAAG	0.413																																						uc021ron.1																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(115-117)Tta>Gta		Homo sapiens epididymal protein 3B (EDDM3B), mRNA.							94	91	92					14																	21238424		2203	4300	6503	SO:0001583	missense	64184				spermatid development	extracellular region		g.chr14:21238424T>G	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.115T>G	14.37:g.21238424T>G	ENSP00000314810:p.Leu39Val					EDDM3B_uc001vyd.3_Missense_Mutation_p.L39V	p.L39V	NM_022360	NP_071755	P56851	EP3B_HUMAN			0	115	+			39					A0PK89	Missense_Mutation	SNP	ENST00000326783.3	37	c.115T>G	CCDS9557.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	14.10	2.436098	0.43224	.	.	ENSG00000181552	ENST00000326783	T	0.72615	-0.67	4.05	-0.538	0.11868	Ribonuclease A, domain (3);	0.211058	0.23714	N	0.045300	T	0.65322	0.2680	L	0.59436	1.845	0.09310	N	1	P	0.47253	0.892	P	0.48770	0.589	T	0.59526	-0.7438	10	0.87932	D	0	.	2.6681	0.05058	0.3741:0.362:0.0:0.2638	.	39	P56851	EP3B_HUMAN	V	39	ENSP00000314810:L39V	ENSP00000314810:L39V	L	+	1	2	EDDM3B	20308264	0.012000	0.17670	0.000000	0.03702	0.743000	0.42351	0.005000	0.13129	-0.363000	0.08101	-0.516000	0.04426	TTA		0.413	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			G	21238424	T	G	21238424	3	3	116	1	0	0	0	0	1	0	0	0	4910	1606	56	5	117	5	EDDM3B	14	21238424	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08		21238424	86111116	52	7896											
CTSG	1511	broad.mit.edu	37	chr14	25042969	25042969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgactttccataggagacGatgccgtgggccacattgtt	9	10	12	10	3	0	1	0	0	0	1	1	5	1	1	3	2	1	1	3	2	1	4	rs147260851		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:25042969G>A	ENST00000216336.2	-	5	678	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	214	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557													G|||	1	0.000199681	0	0	5008	,	,		16817	0.001		0	False		,,,				2504	0					uc001wpq.3																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(640-642)atC>atT		Homo sapiens cathepsin G (CTSG), mRNA.		G		12,4394	20.2+/-43.8	0,12,2191	112	121	118		642	-8.6	0.7	14	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	CTSG	NM_001911.2		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		214/256	25042969	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042969G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.642C>T	14.37:g.25042969G>A							p.I214I	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	679	-			214			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.642C>T	CCDS9631.1																																																																																				0.557	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		A	25042969	G	A	25042969	2	1	116	1	0	0	0	0	0	0	0	1	4035	1048	37	2		2	CTSG	14	25042969	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	3804545	25042969	82306571	53	7897											
FAM181A	90050	broad.mit.edu	37	chr14	94394937	94394937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggagaaggtgctgaggaaCccctacagggaggaatgtct	13	6	15	7	0	1	2	0	1	1	1	1	6	1	5	2	5	3	1	2	5	5	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:94394937C>T	ENST00000267594.5	+	3	799	c.492C>T	c.(490-492)aaC>aaT	p.N164N	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.N102N|FAM181A_ENST00000556222.1_Silent_p.N102N|FAM181A_ENST00000557719.1_Silent_p.N102N	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	164				N -> S (in Ref. 2; BAC04151). {ECO:0000305}.						cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCTGAGGAACCCCTACAGGG	0.637																																						uc001ybz.2																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(490-492)aaC>aaT		Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.							33	40	38					14																	94394937		2202	4300	6502	SO:0001819	synonymous_variant	90050							g.chr14:94394937C>T	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.492C>T	14.37:g.94394937C>T						FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.N102N|FAM181A_uc021saz.1_Silent_p.N102N|FAM181A_uc010aus.2_Silent_p.N102N|FAM181A_uc001yca.2_Silent_p.N102N	p.N164N	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN			2	817	+			164	N -> S (in Ref. 2; BAC04151).				B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.492C>T	CCDS9914.1																																																																																				0.637	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		T	94394937	C	T	94394937	2	4	116	1	0	0	0	0	0	0	0	1	5508	506	18	3		3	FAM181A	14	94394937	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	69351968	94394937	12954603	54	7898											
SLC12A6	9990	broad.mit.edu	37	chr15	34528395	34528395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtttcggtctttcaccaaTtgtgcctgaggaagaaggtc	9	12	12	8	1	2	2	1	1	1	1	4	4	2	3	2	3	1	1	2	3	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:34528395T>C	ENST00000354181.3	-	24	3540	c.3048A>G	c.(3046-3048)caA>caG	p.Q1016Q	SLC12A6_ENST00000290209.5_Silent_p.Q965Q|SLC12A6_ENST00000458406.2_Silent_p.Q957Q|SLC12A6_ENST00000560611.1_Silent_p.Q1016Q|SLC12A6_ENST00000451844.2_Silent_p.Q828Q|SLC12A6_ENST00000558667.1_Silent_p.Q1016Q|SLC12A6_ENST00000397707.2_Silent_p.Q1001Q|SLC12A6_ENST00000397702.2_Silent_p.Q957Q|SLC12A6_ENST00000560164.1_Silent_p.Q828Q|SLC12A6_ENST00000558589.1_Silent_p.Q1007Q			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1016					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTTCACCAATTGTGCCTGAG	0.413																																						uc001zhw.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(3046-3048)caA>caG		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	Potassium Chloride(DB00761)						105	88	94					15																	34528395		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528395T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.3048A>G	15.37:g.34528395T>C						SLC12A6_uc001zhv.3_Silent_p.Q965Q|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.Q1001Q|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.Q957Q|SLC12A6_uc001zib.3_Silent_p.Q1007Q|SLC12A6_uc001zic.3_Silent_p.Q1016Q|SLC12A6_uc010bau.3_Silent_p.Q1016Q|SLC12A6_uc001zid.3_Silent_p.Q957Q|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.Q828Q	p.Q1016Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3212	-		all_lung(180;2.78e-08)	1016					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.3048A>G	CCDS58352.1																																																																																				0.413	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		C	34528395	T	C	34528395	2	2	116	1	0	0	0	0	0	0	0	1	14387	1490	52	4		4	SLC12A6	15	34528395	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08		34528395	68002997	55	7899											
LMAN1L	79748	broad.mit.edu	37	chr15	75116023	75116023	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcttcggggcccggcGgtgaggggaaagtagtgggc	7	5	22	7	3	0	1	0	1	0	0	1	4	0	3	1	8	1	2	1	8	2	2	rs147808783	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:75116023G>A	ENST00000309664.5	+	12	1462	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site_p.A429A	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	441						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGCCCGGCGGTGAGGGGAA	0.622													G|||	3	0.000599042	0	0	5008	,	,		17863	0.001		0.002	False		,,,				2504	0					uc002ayt.1																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e12+1		Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.		G		1,4393	2.1+/-5.4	0,1,2196	38	40	39		1323	1.3	0	15	dbSNP_134	39	1,8589	1.2+/-3.3	0,1,4294	yes	coding-synonymous-near-splice	LMAN1L	NM_021819.2		0,2,6490	AA,AG,GG		0.0116,0.0228,0.0154		441/527	75116023	2,12982	2197	4295	6492	SO:0001630	splice_region_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116023G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1323+1G>A	15.37:g.75116023G>A						LMAN1L_uc010bke.1_Splice_Site_p.A429_splice|CPLX3_uc002ayu.1_5'Flank	p.A441_splice	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			12	1325	+			441					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1323_splice	CCDS10270.1																																																																																				0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		Silent	A	75116023	G	A	75116023	5	1	116	1	0	0	0	0	0	0	1	0	8837	1130	39	2	1369	2	LMAN1L	15	75116023	Splice_Site	SNP	G	TCGA-12-0692-01A-01W-0348-08	40587628	75116023	27415369	56	7900											
DNAH3	55567	broad.mit.edu	37	chr16	20974846	20974846	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgctcctcatggggccAggccgagtcatagatcagct	8	9	13	11	1	3	1	3	0	0	1	4	3	4	1	3	3	2	3	3	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:20974846A>T	ENST00000261383.3	-	53	10359	c.10360T>A	c.(10360-10362)Tgg>Agg	p.W3454R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3454					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGGGCCAGGCCGAGTCA	0.532																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10360-10362)Tgg>Agg		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							93	75	81					16																	20974846		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974846A>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10360T>A	16.37:g.20974846A>T	ENSP00000261383:p.Trp3454Arg					DNAH3_uc010vbd.2_Missense_Mutation_p.W889R	p.W3454R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	10360	-			3454					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10360T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	3.473	-0.107623	0.06924	.	.	ENSG00000158486	ENST00000261383	T	0.07327	3.2	5.39	3.01	0.34805	Dynein heavy chain (1);	1.217090	0.05744	N	0.601874	T	0.01940	0.0061	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.31971	-0.9924	10	0.25106	T	0.35	.	4.4533	0.11631	0.5545:0.0:0.0982:0.3472	.	3454	Q8TD57	DYH3_HUMAN	R	3454	ENSP00000261383:W3454R	ENSP00000261383:W3454R	W	-	1	0	DNAH3	20882347	0.906000	0.30813	0.918000	0.36340	0.798000	0.45092	2.136000	0.42121	2.040000	0.60383	0.460000	0.39030	TGG		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20974846	A	T	20974846	3	4	116	1	0	0	0	0	1	0	0	0	4603	188	7	5	2029	5	DNAH3	16	20974846	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08		20974846	69379907	57	7901											
SRCAP	10847	broad.mit.edu	37	chr16	30748842	30748842	+	Missense_Mutation	SNP	G	G	C																															tccttcacagattcctccttGttcttctcctgcctgcaccc																								rs200066296		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748842G>C	ENST00000262518.4	+	34	7866	c.7481G>C	c.(7480-7482)tGt>tCt	p.C2494S	SRCAP_ENST00000395059.2_Missense_Mutation_p.C2432S|SRCAP_ENST00000344771.4_Missense_Mutation_p.C2336S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2494	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			attcctccttgttcttctcct	0.552													G|||	1	0.000199681	0	0	5008	,	,		19086	0		0.001	False		,,,				2504	0					uc002dze.1																			0		p.P2493S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7480-7482)tGt>tCt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							218	154	176					16																	30748842		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748842G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7481G>C	16.37:g.30748842G>C	ENSP00000262518:p.Cys2494Ser					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	p.C2494S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7866	+			2494			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7481G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	5.357	0.251176	0.10130	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.89939	-2.59;-2.58;-2.58	3.58	2.62	0.31277	.	0.571372	0.14687	N	0.304361	T	0.73024	0.3534	N	0.08118	0	0.23665	N	0.997164	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56854	-0.7910	10	0.09084	T	0.74	0.043	8.2046	0.31446	0.0:0.4508:0.5492:0.0	.	2432;2494	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2494;2432;2336	ENSP00000262518:C2494S;ENSP00000378499:C2432S;ENSP00000343042:C2336S	ENSP00000262518:C2494S	C	+	2	0	SRCAP	30656343	1.000000	0.71417	0.993000	0.49108	0.760000	0.43138	1.121000	0.31283	1.100000	0.41517	0.313000	0.20887	TGT		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30748842	G	C	30748842	3	2	116	1	0	0	0	0	1	0	0	0	15134	1377	48	5	7607	5	SRCAP	16	30748842	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	9773996	30748842	59605911	58	7902	10	2									
SRCAP	10847	broad.mit.edu	37	chr16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G																															ttcacagattcctccttgttCttctcctgcctgcacccctc																								rs201185965		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748845C>G	ENST00000262518.4	+	34	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2495	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547													C|||	1	0.000199681	0	0	5008	,	,		18950	0		0.001	False		,,,				2504	0					uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7483-7485)tCt>tGt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							216	154	175					16																	30748845		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748845C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7484C>G	16.37:g.30748845C>G	ENSP00000262518:p.Ser2495Cys					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	p.S2495C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7869	+			2495			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7484C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093414	0.08632	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91740	-2.9;-2.87;-2.88	3.48	1.42	0.22433	.	0.207581	0.24336	N	0.039410	T	0.80391	0.4614	N	0.08118	0	0.19575	N	0.999961	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.67007	-0.5779	10	0.26408	T	0.33	-0.0335	9.7542	0.40494	0.0:0.5749:0.4251:0.0	.	2433;2495	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	2495;2433;2337	ENSP00000262518:S2495C;ENSP00000378499:S2433C;ENSP00000343042:S2337C	ENSP00000262518:S2495C	S	+	2	0	SRCAP	30656346	0.998000	0.40836	0.994000	0.49952	0.750000	0.42670	1.133000	0.31430	0.477000	0.27464	0.121000	0.15741	TCT		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30748845	C	G	30748845	3	3	116	1	0	0	0	0	1	0	0	0	15134	913	32	5	7610	5	SRCAP	16	30748845	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	3	30748845	59605908	59	7903	10	2									
ITGAD	3681	broad.mit.edu	37	chr16	31429674	31429674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaccctgggagacaGgatgcttatgagggccagtg	10	6	15	10	0	0	2	0	1	0	1	0	4	0	3	3	4	1	1	3	4	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:31429674G>T	ENST00000389202.2	+	22	2718	c.2669G>T	c.(2668-2670)aGg>aTg	p.R890M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	890					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGAGACAGGATGCTTATG	0.572																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2671-2673)aGg>aTg		Homo sapiens integrin, alpha D (ITGAD), mRNA.							113	108	110					16																	31429674		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31429674G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2669G>T	16.37:g.31429674G>T	ENSP00000373854:p.Arg890Met					ITGAD_uc002ebv.1_Missense_Mutation_p.R890M	p.R891M	NM_005353	NP_005344	Q13349	ITAD_HUMAN			21	2721	+			890					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2672G>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687599	0.48097	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.46063	0.88	5.06	-0.428	0.12306	Integrin alpha-2 (1);	.	.	.	.	T	0.49712	0.1573	L	0.49778	1.585	0.09310	N	1	D;D	0.65815	0.995;0.991	D;D	0.65684	0.937;0.937	T	0.35649	-0.9780	9	0.62326	D	0.03	.	5.3219	0.15885	0.2104:0.0:0.6189:0.1707	.	906;890	Q59H14;Q13349	.;ITAD_HUMAN	M	906;890	ENSP00000373854:R890M	ENSP00000373854:R890M	R	+	2	0	ITGAD	31337175	0.000000	0.05858	0.155000	0.22561	0.773000	0.43773	-0.032000	0.12266	0.035000	0.15519	0.655000	0.94253	AGG		0.572	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		T	31429674	G	T	31429674	3	4	116	1	0	0	0	0	1	0	0	0	7884	1000	35	5	2755	5	ITGAD	16	31429674	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	680829	31429674	58925079	60	7904											
PLA2G15	23659	broad.mit.edu	37	chr16	68288909	68288909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaagaccttctcactGgagttcctggaccccagcaa	9	10	10	12	0	1	1	1	0	1	1	3	4	2	4	4	3	1	2	4	3	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:68288909G>A	ENST00000219345.5	+	3	455	c.372G>A	c.(370-372)ctG>ctA	p.L124L	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Nonsense_Mutation_p.W72*|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_Silent_p.L124L|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	124					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTTCTCACTGGAGTTCCTGG	0.572																																						uc002evr.3																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(370-372)ctG>ctA		Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.							89	88	88					16																	68288909		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68288909G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.372G>A	16.37:g.68288909G>A						PLA2G15_uc010vld.2_Silent_p.L124L|PLA2G15_uc010vle.2_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_5'UTR	p.L124L	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN			2	455	+			124					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.372G>A	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494725	0.85069	.	.	ENSG00000103066	ENST00000413021	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.6055	19.5129	0.95151	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000394197:W72X	W	+	2	0	PLA2G15	66846410	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.762000	0.62250	2.722000	0.93159	0.655000	0.94253	TGG		0.572	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		A	68288909	G	A	68288909	2	1	116	1	0	0	0	0	0	0	0	1	11992	1335	47	3		3	PLA2G15	16	68288909	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	36859235	68288909	22065844	61	7905											
ITGAE	3682	broad.mit.edu	37	chr17	3651273	3651273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataaacggacattcacgaCgccgttgaagccgatgggca	13	6	11	11	5	1	1	1	1	0	0	1	4	1	2	2	2	2	2	2	2	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:3651273C>T	ENST00000263087.4	-	17	2196	c.2098G>A	c.(2098-2100)Gtc>Atc	p.V700I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	700					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACATTCACGACGCCGTTGAAG	0.542																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2098-2100)Gtc>Atc		Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.							81	75	77					17																	3651273		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3651273C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2098G>A	17.37:g.3651273C>T	ENSP00000263087:p.Val700Ile						p.V700I	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	16	2197	-			700					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2098G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	9.613	1.131753	0.21041	.	.	ENSG00000083457	ENST00000263087	T	0.45668	0.89	4.68	2.37	0.29283	Integrin alpha-2 (1);	.	.	.	.	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.26635	0.155	B	0.10450	0.005	T	0.15492	-1.0435	9	0.59425	D	0.04	.	4.6514	0.12596	0.0:0.1075:0.1941:0.6984	.	700	P38570	ITAE_HUMAN	I	700	ENSP00000263087:V700I	ENSP00000263087:V700I	V	-	1	0	ITGAE	3598022	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.552000	0.23376	0.346000	0.23899	-0.312000	0.09012	GTC		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		T	3651273	C	T	3651273	3	4	116	1	0	0	0	0	1	0	0	0	7885	536	19	1	1501	1	ITGAE	17	3651273	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		3651273	77543937	62	7906											
LGALS9B	284194	broad.mit.edu	37	chr17	20363749	20363749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggatagtcccagaaaagGggacggcctgcagggagaag	12	5	16	8	1	0	2	0	0	0	2	1	5	1	4	2	5	1	1	2	5	4	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:20363749G>C	ENST00000423676.3	-	2	110	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.P16R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	16							carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCCAGAAAAGGGGACGGCCTG	0.602																																						uc002gxa.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(46-48)cCc>cGc		Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.							72	62	65					17																	20363749		2201	4292	6493	SO:0001583	missense	284194						sugar binding	g.chr17:20363749G>C		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"Lectins, galactoside-binding"	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.47C>G	17.37:g.20363749G>C	ENSP00000388841:p.Pro16Arg					LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R|LGALS9B_uc010vzh.1_Intron	p.P16R	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN			1	112	-			16					A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.47C>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.003025	0.35320	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.27720	1.65;1.65	2.33	2.33	0.28932	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (2);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	H	0.96175	3.78	0.20821	N	0.999848	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55742	-0.8093	10	0.87932	D	0	.	8.2014	0.31428	0.0:0.0:1.0:0.0	.	16;16	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	16	ENSP00000388841:P16R;ENSP00000315564:P16R	ENSP00000315564:P16R	P	-	2	0	LGALS9B	20304341	1.000000	0.71417	0.055000	0.19348	0.048000	0.14542	5.488000	0.66869	1.318000	0.45170	0.194000	0.17425	CCC		0.602	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		C	20363749	G	C	20363749	3	2	116	1	0	0	0	0	1	0	0	0	8749	1232	43	5	1060	5	LGALS9B	17	20363749	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	16712476	20363749	60831461	63	7907											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115627	47115627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggacctgagaatgggCgccgagggggctttggctct	7	7	17	10	2	1	1	0	1	1	1	1	4	1	2	2	5	0	2	2	5	1	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:47115627C>T	ENST00000290341.3	+	6	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	167					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(499-501)Cgc>Tgc		Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.							46	52	50					17																	47115627		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115627C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.499C>T	17.37:g.47115627C>T	ENSP00000290341:p.Arg167Cys					IGF2BP1_uc010dbj.3_Intron	p.R167C	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			5	833	+			167					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.499C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964623	0.53507	.	.	ENSG00000159217	ENST00000290341	T	0.19938	2.11	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);	0.129178	0.52532	D	0.000063	T	0.28896	0.0717	L	0.31926	0.97	0.80722	D	1	D	0.71674	0.998	P	0.51657	0.676	T	0.00936	-1.1508	10	0.51188	T	0.08	-10.8668	19.0998	0.93269	0.0:1.0:0.0:0.0	.	167	Q9NZI8	IF2B1_HUMAN	C	167	ENSP00000290341:R167C	ENSP00000290341:R167C	R	+	1	0	IGF2BP1	44470626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.065000	0.41442	2.585000	0.87301	0.655000	0.94253	CGC		0.637	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		T	47115627	C	T	47115627	3	4	116	1	0	0	0	0	1	0	0	0	7573	768	27	1	521	1	IGF2BP1	17	47115627	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	26751878	47115627	34079583	64	7908											
TNFSF14	8740	broad.mit.edu	37	chr19	6669978	6669978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagacccacccgggccaCactgcacgactgtctccggt	8	5	9	19	3	1	1	0	0	1	1	2	2	1	1	5	2	1	1	5	2	0	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:6669978C>A	ENST00000599359.1	-	2	484	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	TNFSF14_ENST00000245912.3_Missense_Mutation_p.V35L|TNFSF14_ENST00000326176.9_Missense_Mutation_p.V35L			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	35					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCCGGGCCACACTGCACGAC	0.632																																						uc002mfk.2																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(103-105)Gtg>Ttg		Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.							129	112	118					19																	6669978		2203	4300	6503	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6669978C>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.103G>T	19.37:g.6669978C>A	ENSP00000469049:p.Val35Leu					TNFSF14_uc002mfj.2_Missense_Mutation_p.V35L	p.V35L	NM_003807	NP_003798	O43557	TNF14_HUMAN			1	485	-			35					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.103G>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	c	6.789	0.514592	0.12944	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T;T	0.32988	1.43;1.43	5.04	-2.84	0.05751	.	1.227770	0.06199	N	0.682870	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.009;0.015	B;B	0.12837	0.004;0.008	T	0.27191	-1.0081	10	0.08179	T	0.78	-4.3728	3.0359	0.06122	0.1275:0.3405:0.3676:0.1644	.	35;35	O43557;O43557-2	TNF14_HUMAN;.	L	35	ENSP00000245912:V35L;ENSP00000326940:V35L	ENSP00000245912:V35L	V	-	1	0	TNFSF14	6620978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.537000	0.06128	-0.275000	0.09219	-1.027000	0.02421	GTG		0.632	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			A	6669978	C	A	6669978	3	1	116	1	0	0	0	0	1	0	0	0	16304	478	17	5	635	5	TNFSF14	19	6669978	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		6669978	52459005	65	7909											
ZNF560	147741	broad.mit.edu	37	chr19	9579010	9579010	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctccattttggtttcttgCctgttaacacaggaatgaac	9	15	7	10	0	2	1	0	1	2	0	3	2	2	2	2	2	3	2	2	2	3	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:9579010C>T	ENST00000301480.4	-	10	826	c.613G>A	c.(613-615)Gca>Aca	p.A205T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGTTTCTTGCCTGTTAACAC	0.338																																						uc002mlp.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.e10-1		Homo sapiens zinc finger protein 560 (ZNF560), mRNA.							61	48	53					19																	9579010		2203	4300	6503	SO:0001630	splice_region_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9579010C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.613-1G>A	19.37:g.9579010C>T						ZNF560_uc010dwr.1_Splice_Site_p.A99_splice	p.A205_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	823	-			205					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.613_splice	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119692	0.20877	.	.	ENSG00000198028	ENST00000301480	T	0.52526	0.66	2.15	1.03	0.20045	.	.	.	.	.	T	0.24586	0.0596	N	0.12746	0.255	0.09310	N	1	B	0.22683	0.073	B	0.12837	0.008	T	0.16129	-1.0413	9	0.49607	T	0.09	.	3.3166	0.07035	0.0:0.5509:0.282:0.1671	.	205	Q96MR9	ZN560_HUMAN	T	205	ENSP00000301480:A205T	ENSP00000301480:A205T	A	-	1	0	ZNF560	9440010	0.010000	0.17322	0.058000	0.19502	0.604000	0.37047	-0.229000	0.09098	0.422000	0.26005	0.561000	0.74099	GCA		0.338	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	Missense_Mutation	T	9579010	C	T	9579010	5	4	116	1	0	0	0	0	0	0	1	0	17988	753	26	3	1763	3	ZNF560	19	9579010	Splice_Site	SNP	C	TCGA-12-0692-01A-01W-0348-08	2909032	9579010	49549973	66	7910											
OR1I1	126370	broad.mit.edu	37	chr19	15198267	15198267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccattgtccacccacagCgttacttggttctcatgtgc	6	13	9	13	1	1	0	1	0	1	0	3	0	2	0	3	2	3	2	3	2	1	4	rs372952340		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:15198267C>T	ENST00000209540.2	+	1	477	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCACCCACAGCGTTACTTGGT	0.567																																						uc010xoe.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(391-393)Cgt>Tgt		Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	85	71	76		391	2.7	0	19		76	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR1I1	NM_001004713.1	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	131/356	15198267	2,13004	2203	4300	6503	SO:0001583	missense	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15198267C>T	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.391C>T	19.37:g.15198267C>T	ENSP00000209540:p.Arg131Cys						p.R131C	NM_001004713	NP_001004713	O60431	OR1I1_HUMAN			0	391	+			131					Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	c.391C>T	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	c	11.39	1.624049	0.28889	0.0	2.33E-4	ENSG00000094661	ENST00000209540	T	0.01584	4.75	4.8	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.258488	0.20346	U	0.094146	T	0.04092	0.0114	L	0.45228	1.405	0.09310	N	1	D	0.64830	0.994	P	0.56042	0.79	T	0.29579	-1.0007	10	0.87932	D	0	.	9.2111	0.37320	0.0:0.8206:0.0:0.1794	.	131	O60431	OR1I1_HUMAN	C	131	ENSP00000209540:R131C	ENSP00000209540:R131C	R	+	1	0	OR1I1	15059267	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.982000	0.29539	0.632000	0.30432	0.561000	0.74099	CGT		0.567	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			T	15198267	C	T	15198267	3	4	116	1	0	0	0	0	1	0	0	0	10958	768	27	1	393	1	OR1I1	19	15198267	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	5619257	15198267	43930716	67	7911											
NLRP4	147945	broad.mit.edu	37	chr19	56388509	56388509	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgggctctgacgcatacGgattgccgcttagagattct	7	12	12	10	4	2	2	0	1	2	1	3	4	2	3	1	2	2	3	1	2	2	4	rs201059514		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:56388509G>A	ENST00000301295.6	+	8	3095	c.2673G>A	c.(2671-2673)acG>acA	p.T891T	NLRP4_ENST00000587891.1_Silent_p.T816T|NLRP4_ENST00000346986.5_Silent_p.T835T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	891					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGCATACGGATTGCCGCT	0.478																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2671-2673)acG>acA		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.		G		0,4406		0,0,2203	198	187	191		2673	-1.6	0	19		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP4	NM_134444.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		891/995	56388509	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56388509G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2673G>A	19.37:g.56388509G>A						NLRP4_uc002qmf.3_Silent_p.T816T|NLRP4_uc010etf.3_Silent_p.T666T	p.T891T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	3095	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	891					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2673G>A	CCDS12936.1																																																																																				0.478	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56388509	G	A	56388509	2	1	116	1	0	0	0	0	0	0	0	1	10479	1103	39	2		2	NLRP4	19	56388509	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	41190242	56388509	2740474	68	7912											
STK35	140901	broad.mit.edu	37	chr20	2097899	2097899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgcacatcccccaaaaaCgcaggacttccatgtctgag	12	8	8	13	1	1	1	0	1	1	0	3	2	3	2	3	1	2	3	3	1	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:2097899C>T	ENST00000381482.3	+	3	1751	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	STK35_ENST00000246032.3_Missense_Mutation_p.R361C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCCCAAAAACGCAGGACTTC	0.512																																						uc002wfw.4																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(1480-1482)Cgc>Tgc		Homo sapiens serine/threonine kinase 35 (STK35), mRNA.							80	77	78					20																	2097899		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097899C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1480C>T	20.37:g.2097899C>T	ENSP00000370891:p.Arg494Cys					STK35_uc010zpu.2_Intron	p.R494C	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			2	1480	+			494			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1480C>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795580	0.50208	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.93604	-3.25;-3.25	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.284313	0.39274	N	0.001405	D	0.94840	0.8333	L	0.43701	1.375	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.94332	0.7563	10	0.49607	T	0.09	-8.681	16.94	0.86215	0.0:1.0:0.0:0.0	.	494	Q8TDR2	STK35_HUMAN	C	494;361	ENSP00000370891:R494C;ENSP00000246032:R361C	ENSP00000246032:R361C	R	+	1	0	STK35	2045899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	2.861000	0.98227	0.655000	0.94253	CGC		0.512	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		T	2097899	C	T	2097899	3	4	116	1	0	0	0	0	1	0	0	0	15300	536	19	1	1490	1	STK35	20	2097899	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		2097899	60927621	69	7913											
TRMT6	51605	broad.mit.edu	37	chr20	5925484	5925485	+	Frame_Shift_Del	DEL	TA	TA	-																															cccttgtccttcaaagctttTatgtcatcttgagtaagttt																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:5925484_5925485delTA	ENST00000203001.2	-	3	462_463	c.332_333delTA	c.(331-333)atafs	p.I111fs	TRMT6_ENST00000453074.2_Intron|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	111					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TCAAAGCTTTTATGTCATCTTG	0.342																																						uc002wmh.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(331-333)atafs		Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.																																				SO:0001589	frameshift_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5925484_5925485delTA	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.332_333delTA	20.37:g.5925484_5925485delTA	ENSP00000203001:p.Ile111fs					TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_Non-coding_Transcript	p.I111fs	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			2	454_455	-			111					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Frame_Shift_Del	DEL	ENST00000203001.2	37	c.332_333delTA	CCDS13093.1																																																																																				0.342	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			-	5925485	TA	-	5925484	7	5	116	1	0	1	0	1	0	0	0	0	16565	1744	61	0	1196	0	TRMT6	20	5925484	Frame_Shift_Del	DEL	TA	TCGA-12-0692-01A-01W-0348-08	3827585	5925484	57100036	70	7914											
CHD6	84181	broad.mit.edu	37	chr20	40043955	40043955	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttccattgacaatctgTccagtcacaggatggatcag	11	10	10	10	0	3	1	2	1	1	0	5	3	5	3	2	3	0	1	2	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:40043955T>C	ENST00000373233.3	-	34	6987	c.6810A>G	c.(6808-6810)ggA>ggG	p.G2270G	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2270					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGACAATCTGTCCAGTCACAG	0.537																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6808-6810)ggA>ggG		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							84	74	78					20																	40043955		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40043955T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6810A>G	20.37:g.40043955T>C						CHD6_uc002xjz.1_5'Flank	p.G2270G	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			33	6988	-		Myeloproliferative disorder(115;0.00425)	2270					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.6810A>G	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40043955	T	C	40043955	2	2	116	1	0	0	0	0	0	0	0	1	3329	1654	58	4		4	CHD6	20	40043955	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08	34118471	40043955	22981565	71	7915											
SYS1	90196	broad.mit.edu	37	chr20	43995683	43995683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgcactcatggctgtcatCggggagtacctgtgcatgcg	7	11	13	10	2	2	0	2	0	0	0	3	1	2	1	1	3	4	4	1	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:43995683C>T	ENST00000243918.5	+	4	690	c.399C>T	c.(397-399)atC>atT	p.I133I	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000372727.1_Silent_p.I133I|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Silent_p.I112I|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	133					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCTGTCATCGGGGAGTACC	0.577																																						uc021weh.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7						c.(397-399)atC>atT		Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.							121	109	113					20																	43995683		2203	4300	6503	SO:0001819	synonymous_variant	90196				protein transport	Golgi membrane|integral to membrane		g.chr20:43995683C>T	AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"chromosome 20 open reading frame 169", "SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.399C>T	20.37:g.43995683C>T						SYS1_uc002xnv.3_Silent_p.I133I|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	p.I133I	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN			4	642	+		Myeloproliferative disorder(115;0.0122)	133					C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Silent	SNP	ENST00000243918.5	37	c.399C>T	CCDS13351.1																																																																																				0.577	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079453.2	NM_033542		T	43995683	C	T	43995683	2	4	116	1	0	0	0	0	0	0	0	1	15461	874	31	2		2	SYS1	20	43995683	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	3951728	43995683	19029837	72	7916											
TSHZ2	128553	broad.mit.edu	37	chr20	51870964	51870964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaccccggctaagaaaCgcgtttttgatgtcaatcgg	9	11	11	10	4	2	2	2	1	0	1	3	2	2	2	2	3	1	2	2	3	3	3	rs368152415		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:51870964C>T	ENST00000371497.5	+	2	1854	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R320C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R320C|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	323					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCTAAGAAACGCGTTTTTGA	0.453																																						uc002xwo.3																			0		p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(967-969)Cgc>Tgc		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77	84	81		958,967	5.8	0.8	20		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	320/1032,323/1035	51870964	1,13005	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870964C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.967C>T	20.37:g.51870964C>T	ENSP00000360552:p.Arg323Cys					TSHZ2_uc021wex.1_Missense_Mutation_p.R320C	p.R323C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1854	+			323					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.967C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007903	0.75046	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.17528	2.28;2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17745	-1.0359	10	0.87932	D	0	-3.6975	20.0431	0.97598	0.0:1.0:0.0:0.0	.	323	Q9NRE2	TSH2_HUMAN	C	323;320	ENSP00000360552:R323C;ENSP00000333114:R320C	ENSP00000333114:R320C	R	+	1	0	TSHZ2	51304371	1.000000	0.71417	0.768000	0.31515	0.571000	0.35966	5.662000	0.68032	2.732000	0.93576	0.643000	0.83706	CGC		0.453	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51870964	C	T	51870964	3	4	116	1	0	0	0	0	1	0	0	0	16621	536	19	1	973	1	TSHZ2	20	51870964	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	7875281	51870964	11154556	73	7917											
CSF2RB	1439	broad.mit.edu	37	chr22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgagggaggggctcGgcagcctccacaccaggcac	8	4	15	14	1	0	1	0	1	0	0	2	2	1	2	3	5	2	4	3	5	0	0	rs576486802	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:37326752G>A	ENST00000403662.3	+	8	1114	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_ENST00000262825.5_Missense_Mutation_p.G304S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G245S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G304S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	298					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													G|||	4	0.000798722	0	0	5008	,	,		16639	0		0	False		,,,				2504	0.0041					uc003aqa.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(892-894)Ggc>Agc		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						46	41	43					22																	37326752		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326752G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.892G>A	22.37:g.37326752G>A	ENSP00000384053:p.Gly298Ser					CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	p.G298S	NM_000395	NP_000386	P32927	IL3RB_HUMAN			7	1109	+			298					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.892G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142053	0.09083	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	D;D;D;T;D	0.83914	-1.78;-1.78;-1.78;0.06;-1.78	5.36	-10.7	0.00240	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.633610	0.03994	N	0.295401	T	0.60274	0.2256	N	0.08118	0	0.09310	N	1	B;B	0.26845	0.161;0.076	B;B	0.19148	0.02;0.024	T	0.56535	-0.7963	10	0.22706	T	0.39	0.4652	8.06	0.30627	0.1926:0.325:0.4228:0.0596	.	304;298	P32927-2;P32927	.;IL3RB_HUMAN	S	298;298;304;304;218;245	ENSP00000384053:G298S;ENSP00000262825:G304S;ENSP00000385271:G304S;ENSP00000393585:G218S;ENSP00000440003:G245S	ENSP00000262825:G304S	G	+	1	0	CSF2RB	35656698	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.730000	0.00381	-5.588000	0.00012	-1.697000	0.00723	GGC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37326752	G	A	37326752	3	1	116	1	0	0	0	0	1	0	0	0	3935	1116	39	2	918	2	CSF2RB	22	37326752	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		37326752	13977814	74	7918											
ENTHD1	150350	broad.mit.edu	37	chr22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatttatacacgtggcGccagttcttcccatggtcat	9	12	10	10	2	2	0	1	0	1	0	3	1	3	1	2	3	1	1	2	3	3	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:40283548G>A	ENST00000325157.6	-	2	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.R69C(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403																																						uc003ayg.3																			1	Substitution - Missense(1)	p.R69C(2)	lung(1)	breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(205-207)Cgc>Tgc		Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.							171	170	170					22																	40283548		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283548G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.205C>T	22.37:g.40283548G>A	ENSP00000317431:p.Arg69Cys						p.R69C	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			1	456	-	Melanoma(58;0.0749)		69			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.205C>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620476	0.66787	.	.	ENSG00000176177	ENST00000325157	T	0.54866	0.55	5.42	4.41	0.53225	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.076064	0.56097	D	0.000035	T	0.81138	0.4760	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84210	0.0455	10	0.87932	D	0	-9.1805	7.7359	0.28815	0.0821:0.0:0.6516:0.2662	.	69	Q8IYW4	ENTD1_HUMAN	C	69	ENSP00000317431:R69C	ENSP00000317431:R69C	R	-	1	0	ENTHD1	38613494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.025000	0.41059	1.416000	0.47057	0.655000	0.94253	CGC		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40283548	G	A	40283548	3	1	116	1	0	0	0	0	1	0	0	0	5137	1087	38	1	1642	1	ENTHD1	22	40283548	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	2956796	40283548	11021018	75	7919											
CYP2D6	1565	broad.mit.edu	37	chr22	42524294	42524294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaaagccttttggaagCgtaggaccttgccagccagc	10	8	12	11	1	1	0	1	0	0	0	1	3	1	3	4	3	5	1	4	3	3	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:42524294C>T	ENST00000360608.5	-	5	839	c.725G>A	c.(724-726)cGc>cAc	p.R242H	CYP2D6_ENST00000389970.3_Missense_Mutation_p.R242H|CYP2D6_ENST00000359033.4_Missense_Mutation_p.R191H|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	242					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTTTTGGAAGCGTAGGACCTT	0.607																																						uc003bce.3																			0		p.D241N(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(724-726)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.							53	48	50					22																	42524294		2199	4300	6499	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524294C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.725G>A	22.37:g.42524294C>T	ENSP00000353820:p.Arg242His					LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Missense_Mutation_p.R191H	p.R242H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			4	815	-			242					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.725G>A	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.402885	0.25291	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.68479	-0.33;-0.33;-0.33	4.55	0.799	0.18667	.	0.934257	0.09069	N	0.853110	T	0.57066	0.2028	L	0.42487	1.325	0.09310	N	1	B;B	0.21688	0.059;0.034	B;B	0.16289	0.015;0.015	T	0.49818	-0.8899	10	0.48119	T	0.1	.	9.9636	0.41710	0.0:0.5478:0.317:0.1352	.	191;242	Q6NXU8;Q6NWU0	.;.	H	242;242;188;191;191	ENSP00000353820:R242H;ENSP00000374620:R242H;ENSP00000351927:R191H	ENSP00000351927:R191H	R	-	2	0	CYP2D6	40854238	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.294000	0.19047	0.421000	0.25980	-0.494000	0.04653	CGC		0.607	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42524294	C	T	42524294	3	4	116	1	0	0	0	0	1	0	0	0	4169	768	27	1	788	1	CYP2D6	22	42524294	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	2240746	42524294	8780272	76	7920											
TBL1X	6907	broad.mit.edu	37	chrX	9656243	9656243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgacctcagccggcGtttcccaccaaaatccatcg	10	6	6	19	4	1	0	1	0	0	0	4	1	3	0	7	1	1	1	7	1	2	1	rs200562052		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:9656243G>A	ENST00000217964.7	+	7	1184	c.544G>A	c.(544-546)Gtt>Att	p.V182I	TBL1X_ENST00000424279.1_Missense_Mutation_p.V131I|TBL1X_ENST00000536365.1_Missense_Mutation_p.V131I|TBL1X_ENST00000380961.1_Missense_Mutation_p.V131I|TBL1X_ENST00000407597.2_Missense_Mutation_p.V182I	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	182					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CTCAGCCGGCGTTTCCCACCA	0.632													G|||	1	0.000264901	0	0.0014	3775	,	,		9928	0		0	False		,,,				2504	0					uc004csr.3																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(544-546)Gtt>Att		Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.							32	25	28					X																	9656243		2198	4299	6497	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9656243G>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.544G>A	X.37:g.9656243G>A	ENSP00000217964:p.Val182Ile					TBL1X_uc004csq.4_Missense_Mutation_p.V131I|TBL1X_uc010ndr.3_Missense_Mutation_p.V131I|TBL1X_uc010ndq.3_Missense_Mutation_p.V182I|TBL1X_uc004css.3_Missense_Mutation_p.V133I	p.V182I	NM_005647	NP_001132940	O60907	TBL1X_HUMAN			6	1031	+		Hepatocellular(5;0.000888)	182					A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.544G>A	CCDS14133.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.07	1.828590	0.32329	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.55930	0.49;0.62;0.62;0.62;0.49	4.63	1.87	0.25490	.	.	.	.	.	T	0.38026	0.1025	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.23368	-1.0190	9	0.36615	T	0.2	.	8.6526	0.34044	0.2585:0.0:0.7415:0.0	.	145;182	Q59F53;O60907	.;TBL1X_HUMAN	I	182;131;131;131;182	ENSP00000385988:V182I;ENSP00000394097:V131I;ENSP00000445317:V131I;ENSP00000370348:V131I;ENSP00000217964:V182I	ENSP00000217964:V182I	V	+	1	0	TBL1X	9616243	0.654000	0.27367	0.000000	0.03702	0.037000	0.13140	3.816000	0.55658	0.270000	0.21984	0.513000	0.50165	GTT		0.632	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		A	9656243	G	A	9656243	3	1	116	1	0	0	0	0	1	0	0	0	15636	1145	40	1	558	1	TBL1X	23	9656243	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		9656243	145614317	77	7921											
POLA1	5422	broad.mit.edu	37	chrX	24759540	24759540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacacctggaaagatgcCaagttcattttgcagatcat	14	10	8	9	0	2	2	2	0	0	2	2	4	2	3	2	1	3	2	2	1	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:24759540C>T	ENST00000379059.3	+	21	2262	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	POLA1_ENST00000379068.3_Silent_p.A755A	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	749					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGAAAGATGCCAAGTTCATTT	0.348																																						uc004dbl.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(2245-2247)gcC>gcT		Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	Clofarabine(DB00631)|Fludarabine(DB01073)						140	118	125					X																	24759540		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24759540C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2247C>T	X.37:g.24759540C>T							p.A749A	NM_016937	NP_058633	P09884	DPOLA_HUMAN			20	2262	+			749					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.2247C>T	CCDS14214.1																																																																																				0.348	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		T	24759540	C	T	24759540	2	4	116	1	0	0	0	0	0	0	0	1	12187	581	21	3		3	POLA1	23	24759540	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	15103297	24759540	130511020	78	7922											
SATL1	340562	broad.mit.edu	37	chrX	84362599	84362599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgattggctagtgcctGgttgtctcatgcctagttgg	5	16	12	8	0	1	1	1	1	1	0	2	1	1	1	2	3	3	3	2	3	3	7			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:84362599G>A	ENST00000395409.3	-	1	1375	c.815C>T	c.(814-816)cCa>cTa	p.P272L	SATL1_ENST00000509231.1_Missense_Mutation_p.P459L|SATL1_ENST00000332921.5_Missense_Mutation_p.P272L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	272	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTAGTGCCTGGTTGTCTCAT	0.592																																						uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1375-1377)cCa>cTa		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							152	114	127					X																	84362599		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362599G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.815C>T	X.37:g.84362599G>A	ENSP00000378804:p.Pro272Leu						p.P459L	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN			0	1376	-			272			N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1376C>T		.	.	.	.	.	.	.	.	.	.	G	13.40	2.224895	0.39300	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40476	1.03;1.03;1.03	3.8	-4.18	0.03846	.	1.403200	0.05352	N	0.532044	T	0.44138	0.1279	L	0.37850	1.14	0.09310	N	1	D;B	0.89917	1.0;0.05	D;B	0.78314	0.991;0.028	T	0.43556	-0.9384	10	0.21540	T	0.41	.	2.3864	0.04366	0.1976:0.376:0.2965:0.13	.	272;459	Q86VE3;E9PB72	SATL1_HUMAN;.	L	272;272;459	ENSP00000378804:P272L;ENSP00000329115:P272L;ENSP00000425421:P459L	ENSP00000329115:P272L	P	-	2	0	SATL1	84249255	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.142000	0.03203	-0.838000	0.04218	0.600000	0.82982	CCA		0.592	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		A	84362599	G	A	84362599	3	1	116	1	0	0	0	0	1	0	0	0	13855	1348	47	3	542	3	SATL1	23	84362599	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	59603059	84362599	70907961	79	7923											
PCDH11X	27328	broad.mit.edu	37	chrX	91132676	91132676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctattcctgagaataaCtctcctggcatccagttgac	9	14	7	11	0	2	2	0	2	2	1	5	3	4	2	3	1	1	3	3	1	3	5	rs375364508		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132676C>G	ENST00000373094.1	+	2	2282	c.1437C>G	c.(1435-1437)aaC>aaG	p.N479K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.N479K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N479K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N479K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N479K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N479K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N479K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N479K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N479K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAGAATAACTCTCCTGGCA	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1435-1437)aaC>aaG		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							81	70	74					X																	91132676		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132676C>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1437C>G	X.37:g.91132676C>G	ENSP00000362186:p.Asn479Lys					PCDH11X_uc004efl.2_Missense_Mutation_p.N479K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N479K|PCDH11X_uc004efm.2_Missense_Mutation_p.N479K|PCDH11X_uc004efn.2_Missense_Mutation_p.N479K|PCDH11X_uc004efo.2_Missense_Mutation_p.N479K|PCDH11X_uc004efh.2_Missense_Mutation_p.N479K|PCDH11X_uc004efj.1_Missense_Mutation_p.N479K	p.N479K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2282	+			479			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1437C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356590	0.24598	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.38	1.04	0.20106	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.73430	2.235	0.45621	D	0.998557	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999	T	0.63888	-0.6535	10	0.87932	D	0	.	10.0152	0.42010	0.0:0.5055:0.0:0.4945	.	479;479;479;479;479;479;479;479	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	479	ENSP00000378746:N479K;ENSP00000362186:N479K;ENSP00000362189:N479K;ENSP00000355040:N479K;ENSP00000362180:N479K;ENSP00000423762:N479K;ENSP00000355105:N479K;ENSP00000384758:N479K;ENSP00000298274:N479K	ENSP00000298274:N479K	N	+	3	2	PCDH11X	91019332	1.000000	0.71417	0.996000	0.52242	0.443000	0.32047	1.315000	0.33608	0.121000	0.18284	0.544000	0.68410	AAC		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		G	91132676	C	G	91132676	3	3	116	1	0	0	0	0	1	0	0	0	11508	564	20	5	1443	5	PCDH11X	23	91132676	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	6770077	91132676	64137884	80	7924			1	28		2	2	29	N	C_A	7.868738e-05
PCDH11X	27328	broad.mit.edu	37	chrX	91132704	91132704	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatccagttgacgaaagtaAgtgcaatggatgcagacagt	14	8	12	7	1	0	2	0	1	0	1	1	4	1	3	1	1	2	5	1	1	3	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132704A>T	ENST00000373094.1	+	2	2310	c.1465A>T	c.(1465-1467)Agt>Tgt	p.S489C	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S489C|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S489C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S489C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S489C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S489C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S489C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S489C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S489C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACGAAAGTAAGTGCAATGGA	0.453																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1465-1467)Agt>Tgt		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							97	79	85					X																	91132704		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132704A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1465A>T	X.37:g.91132704A>T	ENSP00000362186:p.Ser489Cys					PCDH11X_uc004efl.2_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.2_Missense_Mutation_p.S489C|PCDH11X_uc004efm.2_Missense_Mutation_p.S489C|PCDH11X_uc004efn.2_Missense_Mutation_p.S489C|PCDH11X_uc004efo.2_Missense_Mutation_p.S489C|PCDH11X_uc004efh.2_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	p.S489C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2310	+			489			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1465A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814394	0.32053	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.041023	0.85682	D	0.000000	T	0.71854	0.3389	M	0.87180	2.865	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.992;1.0;1.0;1.0;1.0;0.999;0.999	T	0.76683	-0.2869	10	0.56958	D	0.05	.	13.5121	0.61519	1.0:0.0:0.0:0.0	.	489;489;489;489;489;489;489;489	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	C	489	ENSP00000378746:S489C;ENSP00000362186:S489C;ENSP00000362189:S489C;ENSP00000355040:S489C;ENSP00000362180:S489C;ENSP00000423762:S489C;ENSP00000355105:S489C;ENSP00000384758:S489C;ENSP00000298274:S489C	ENSP00000298274:S489C	S	+	1	0	PCDH11X	91019360	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	8.999000	0.93557	1.786000	0.52430	0.441000	0.28932	AGT		0.453	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91132704	A	T	91132704	3	4	116	1	0	0	0	0	1	0	0	0	11508	72	3	5	1471	5	PCDH11X	23	91132704	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	28	91132704	64137856	81	7925			1	28		2	2	29	N	C_A	7.868738e-05
LONRF3	79836	broad.mit.edu	37	chrX	118108897	118108897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcacctctaccgacgCgggagccagagcaagagcag	10	2	13	16	4	1	2	0	0	1	2	1	4	1	3	5	1	4	3	5	1	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:118108897C>T	ENST00000371628.3	+	1	185	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	LONRF3_ENST00000304778.7_Missense_Mutation_p.R52W|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	52							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCTACCGACGCGGGAGCCAGA	0.677																																						uc004eqw.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(154-156)Cgg>Tgg		Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.							13	14	14					X																	118108897		2171	4262	6433	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118108897C>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.154C>T	X.37:g.118108897C>T	ENSP00000360690:p.Arg52Trp					LONRF3_uc004eqx.3_Missense_Mutation_p.R52W|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	p.R52W	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			0	185	+			52					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.154C>T	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965978	0.34659	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	D;D;T	0.82619	-1.63;-1.63;-1.34	4.79	2.9	0.33743	.	0.711761	0.12956	N	0.425456	T	0.76877	0.4049	N	0.22421	0.69	0.19775	N	0.999957	D;D	0.71674	0.998;0.99	P;B	0.50049	0.629;0.425	T	0.66392	-0.5935	10	0.66056	D	0.02	-4.574	8.1415	0.31086	0.3128:0.538:0.1492:0.0	.	52;52	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	W	52	ENSP00000360691:R52W;ENSP00000307732:R52W;ENSP00000360690:R52W	ENSP00000307732:R52W	R	+	1	2	LONRF3	117992925	0.000000	0.05858	0.042000	0.18584	0.299000	0.27559	0.198000	0.17217	0.999000	0.39023	-0.353000	0.07706	CGG		0.677	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		T	118108897	C	T	118108897	3	4	116	1	0	0	0	0	1	0	0	0	8896	759	27	1	156	1	LONRF3	23	118108897	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	26976193	118108897	37161663	82	7926											
ZBTB33	10009	broad.mit.edu	37	chrX	119388318	119388318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtcctgactcggccGtcagtaatacatctttggtc	7	12	9	13	2	2	1	1	1	1	0	6	1	4	1	3	2	1	2	3	2	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:119388318G>A	ENST00000326624.2	+	2	1276	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ZBTB33_ENST00000557385.1_Missense_Mutation_p.V350I	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	350					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.V350I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGACTCGGCCGTCAGTAATAC	0.413																																						uc022cdm.1																			1	Substitution - Missense(1)	p.V350I(2)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1048-1050)Gtc>Atc		Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.							154	135	141					X																	119388318		2203	4300	6503	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388318G>A	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1048G>A	X.37:g.119388318G>A	ENSP00000314153:p.Val350Ile					ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I|ZBTB33_uc004esn.1_Missense_Mutation_p.V350I	p.V350I	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			0	1048	+			350					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.1048G>A	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445155	0.43429	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.10960	2.82;2.82	5.55	4.68	0.58851	.	0.070286	0.56097	D	0.000035	T	0.17916	0.0430	L	0.27053	0.805	0.39158	D	0.96234	D	0.69078	0.997	D	0.70487	0.969	T	0.06954	-1.0798	10	0.30854	T	0.27	-4.5799	11.1759	0.48598	0.0871:0.0:0.9129:0.0	.	350	Q86T24	KAISO_HUMAN	I	350	ENSP00000314153:V350I;ENSP00000450969:V350I	ENSP00000314153:V350I	V	+	1	0	ZBTB33;AC002086.1	119272346	0.999000	0.42202	0.841000	0.33234	0.947000	0.59692	2.849000	0.48286	1.227000	0.43598	0.513000	0.50165	GTC		0.413	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		A	119388318	G	A	119388318	3	1	116	1	0	0	0	0	1	0	0	0	17533	1145	40	1	1050	1	ZBTB33	23	119388318	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	1279421	119388318	35882242	83	7927											
STAG2	10735	broad.mit.edu	37	chrX	123176479	123176479	+	Frame_Shift_Del	DEL	C	C	-																															tgagataattcgaaaaatgaCtgaagaattcgatgaggtaa																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:123176479delC	ENST00000371160.1	+	7	736	c.446delC	c.(445-447)actfs	p.T149fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.T149fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.T149fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.T80fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.T149fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.T149fs|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	149					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGAAAAATGACTGAAGAATTC	0.299																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(445-447)actfs		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							78	74	75					X																	123176479		2203	4300	6503	SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176479delC	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.446delC	X.37:g.123176479delC	ENSP00000360202:p.Thr149fs					STAG2_uc004etz.4_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.3_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.3_Frame_Shift_Del_p.T149fs	p.T149fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			6	850	+			149					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.446delC	CCDS14607.1																																																																																				0.299	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		-	123176479	C	-	123176479	7	5	116	1	0	1	0	1	0	0	0	0	15242	565	20	0	464	0	STAG2	23	123176479	Frame_Shift_Del	DEL	C	TCGA-12-0692-01A-01W-0348-08	3788161	123176479	32094081	84	7928											
RBMX	27316	broad.mit.edu	37	chrX	135961585	135961586	+	Start_Codon_Ins	INS	-	-	T																															tgggcgatctgcttcaaccaINStgtttttttttttttgggcc																								rs201673579|rs369256758		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:135961585_135961586insT	ENST00000320676.7	-	0	155_156				RBMX_ENST00000562646.1_Start_Codon_Ins|RBMX_ENST00000431446.3_Start_Codon_Ins|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_De_novo_Start_OutOfFrame|RBMX_ENST00000565438.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													?|T|TT|unsure	13	0.00344371	0.0038	0.0043	3775	,	,		12447	0.002		0.002	False		,,,				2504	0.001					uc004fae.2																			1	Unknown(1)	p.?(1)	ovary(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(1-3)atgfs		Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.																																				SO:0001582	initiator_codon_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961585_135961586insT		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.2dupA	X.37:g.135961586_135961586dupT						RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	p.M1fs	NM_002139	NP_002130	P38159	HNRPG_HUMAN			1	211_212	-	Acute lymphoblastic leukemia(192;0.000127)		1					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	ENST00000320676.7	37	c.1_2insA	CCDS14661.1																																																																																				0.391	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135961586	-	T	135961585	7	5	116	1	0	1	1	0	0	0	0	0	13151	217	8	0	1260	0	RBMX	23	135961585	Start_Codon_Ins	INS	-	TCGA-12-0692-01A-01W-0348-08	12785106	135961585	19308975	85	7929											
PLXNB3	5365	broad.mit.edu	37	chrX	153033075	153033075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgctcctacgtggccCgcgtctgcctgggggacacc	5	7	13	16	4	1	0	0	0	1	0	2	1	2	1	5	3	3	2	5	3	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153033075C>T	ENST00000361971.5	+	3	907	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R288C|U52111.14_ENST00000416854.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTGGCCCGCGTCTGCCT	0.721																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(862-864)Cgc>Tgc		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							15	13	14					X																	153033075		2181	4276	6457	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033075C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.793C>T	X.37:g.153033075C>T	ENSP00000355378:p.Arg265Cys					PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.R265C|PLXNB3_uc011mzd.1_Intron	p.R288C	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			3	1133	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		265			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.862C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349609	0.41599	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.19669	2.13;2.13	5.1	4.22	0.49857	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.074703	0.52532	D	0.000064	T	0.50650	0.1628	M	0.88512	2.96	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.57225	-0.7848	10	0.87932	D	0	.	11.245	0.48991	0.3295:0.6705:0.0:0.0	.	288;265	F5H773;Q9ULL4	.;PLXB3_HUMAN	C	288;265	ENSP00000442736:R288C;ENSP00000355378:R265C	ENSP00000355378:R265C	R	+	1	0	PLXNB3	152686269	0.684000	0.27642	0.232000	0.24009	0.154000	0.21943	1.390000	0.34464	0.919000	0.36945	0.529000	0.55759	CGC		0.721	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153033075	C	T	153033075	3	4	116	1	0	0	0	0	1	0	0	0	12125	652	23	2	917	2	PLXNB3	23	153033075	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	17071490	153033075	2237485	86	7930											
FLNA	2316	broad.mit.edu	37	chrX	153588484	153588484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgacggtgtaggcccCggggcagaggggaatgtagg	8	6	21	6	2	0	2	0	1	0	1	0	4	0	3	2	8	0	3	2	8	3	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153588484C>T	ENST00000369850.3	-	22	3915	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000422373.1_Missense_Mutation_p.G1227R|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637																																						uc004fkk.2																			0				breast(6)	6						c.(3679-3681)Ggg>Agg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							37	43	41					X																	153588484		2063	4170	6233	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588484C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3679G>A	X.37:g.153588484C>T	ENSP00000358866:p.Gly1227Arg					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R	p.G1227R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3928	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1227					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3679G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635425	0.67130	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.82	4.8	4.8	0.61643	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99849	1.1069	10	0.87932	D	0	.	17.1938	0.86887	0.0:1.0:0.0:0.0	.	1227;1227	P21333-2;P21333	.;FLNA_HUMAN	R	1227;1200;1227;1227;1227	ENSP00000353467:G1227R;ENSP00000416926:G1227R;ENSP00000358866:G1227R;ENSP00000358863:G1227R	ENSP00000358863:G1227R	G	-	1	0	FLNA	153241678	1.000000	0.71417	0.980000	0.43619	0.497000	0.33675	6.063000	0.71162	1.981000	0.57761	0.436000	0.28706	GGG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153588484	C	T	153588484	3	4	116	1	0	0	0	0	1	0	0	0	5933	652	23	2	4372	2	FLNA	23	153588484	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	555409	153588484	1682076	87	7931											
PLXNA3	55558	broad.mit.edu	37	chrX	153694763	153694763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccgtggcccggcgtcCgggggcacacggcttaccat	5	5	14	17	5	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	1	1	rs199634043		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153694763C>T	ENST00000369682.3	+	16	3019	c.2844C>T	c.(2842-2844)tcC>tcT	p.S948S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	948	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGGCGTCCGGGGGCACAC	0.672																																						uc004flm.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2842-2844)tcC>tcT		Homo sapiens plexin A3 (PLXNA3), mRNA.							65	76	73					X																	153694763		2202	4300	6502	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694763C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2844C>T	X.37:g.153694763C>T							p.S948S	NM_017514	NP_059984	P51805	PLXA3_HUMAN			15	3017	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		948			IPT/TIG 2.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2844C>T	CCDS14752.1																																																																																				0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		T	153694763	C	T	153694763	2	4	116	1	0	0	0	0	0	0	0	1	12121	639	23	2		2	PLXNA3	23	153694763	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	106279	153694763	1575797	88	7932											
TNFRSF8	943	broad.mit.edu	37	chr1	12170201	12170201	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgcccaggaagctgctTctaaactgacgagggctccc	8	7	11	15	2	1	1	0	1	1	0	3	3	2	2	3	2	3	3	3	2	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:12170201T>A	ENST00000263932.2	+	6	838	c.616T>A	c.(616-618)Tct>Act	p.S206T	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S95T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	206					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGAAGCTGCTTCTAAACTGAC	0.632																																						uc001atq.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(616-618)Tct>Act		Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.							50	46	48					1																	12170201		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170201T>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.616T>A	1.37:g.12170201T>A	ENSP00000263932:p.Ser206Thr					TNFRSF8_uc010obc.2_Missense_Mutation_p.S95T	p.S206T	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	5	838	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	206					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.616T>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	12.89	2.074040	0.36566	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06608	3.28;3.28	4.09	-0.97	0.10306	.	2.771360	0.01916	N	0.040152	T	0.06735	0.0172	L	0.45581	1.43	0.09310	N	1	B;B	0.31910	0.346;0.197	B;B	0.35859	0.212;0.064	T	0.33240	-0.9876	10	0.10377	T	0.69	-7.6087	3.1242	0.06401	0.1957:0.3276:0.0:0.4767	.	95;206	D3YTD8;P28908	.;TNR8_HUMAN	T	206;95	ENSP00000263932:S206T;ENSP00000390650:S95T	ENSP00000263932:S206T	S	+	1	0	TNFRSF8	12092788	0.000000	0.05858	0.011000	0.14972	0.035000	0.12851	-1.062000	0.03468	-0.175000	0.10725	0.477000	0.44152	TCT		0.632	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			A	12170201	T	A	12170201	3	1	117	1	0	0	0	0	1	0	0	0	16296	1783	62	5	638	5	TNFRSF8	1	12170201	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		12170201	237080420	1	7933											
TAS1R2	80834	broad.mit.edu	37	chr1	19181287	19181287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcgcgccgggccacgCgctcgccaagcagctggcca	7	4	14	16	6	0	1	0	0	0	1	2	1	0	1	4	2	2	3	4	2	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:19181287C>T	ENST00000375371.3	-	3	698	c.677G>A	c.(676-678)cGc>cAc	p.R226H	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	226					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCGGGCCACGCGCTCGCCAAG	0.642																																						uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(676-678)cGc>cAc		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						39	35	37					1																	19181287		2203	4297	6500	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181287C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.677G>A	1.37:g.19181287C>T	ENSP00000364520:p.Arg226His						p.R226H	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	678	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	226					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.677G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397987	0.25205	.	.	ENSG00000179002	ENST00000375371	D	0.86164	-2.08	4.99	2.81	0.32909	Extracellular ligand-binding receptor (1);	0.744728	0.11544	N	0.553402	T	0.80904	0.4713	L	0.47716	1.5	0.29763	N	0.835404	B	0.26081	0.141	B	0.22880	0.042	T	0.73808	-0.3866	10	0.56958	D	0.05	.	4.9547	0.14033	0.0:0.5209:0.0:0.4791	.	226	Q8TE23	TS1R2_HUMAN	H	226	ENSP00000364520:R226H	ENSP00000364520:R226H	R	-	2	0	TAS1R2	19053874	0.000000	0.05858	0.916000	0.36221	0.037000	0.13140	0.043000	0.13971	0.651000	0.30788	0.561000	0.74099	CGC		0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19181287	C	T	19181287	3	4	117	1	0	0	0	0	1	0	0	0	15560	768	27	1	1858	1	TAS1R2	1	19181287	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7011086	19181287	230069334	2	7934											
CNKSR1	10256	broad.mit.edu	37	chr1	26515154	26515154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagccacccccacacaGcgcagcccacggacctcctt	8	4	7	22	2	0	0	0	0	0	0	1	1	1	1	7	1	4	2	7	1	0	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:26515154G>A	ENST00000374253.5	+	19	1716	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000531191.1_Silent_p.Q294Q|CNKSR1_ENST00000361530.6_Silent_p.Q552Q	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	559					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACACAGCGCAGCCCAC	0.647																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1675-1677)caG>caA		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.							40	40	40					1																	26515154		2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26515154G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1677G>A	1.37:g.26515154G>A						CNKSR1_uc001blm.4_Silent_p.Q552Q|CNKSR1_uc009vsd.3_Silent_p.Q294Q|CNKSR1_uc009vse.3_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	p.Q559Q	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	18	1735	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	559					B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.1677G>A																																																																																					0.647	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		A	26515154	G	A	26515154	2	1	117	1	0	0	0	0	0	0	0	1	3606	962	34	3		3	CNKSR1	1	26515154	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	7333867	26515154	222735467	3	7935											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553632	45553632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaggaagaacttcagtgtgGtgtgccgtgattaaatattg	11	13	13	4	1	1	2	1	1	0	1	1	3	1	3	1	2	2	1	1	2	6	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:45553632G>A	ENST00000359600.5	-	2	1078	c.873C>T	c.(871-873)caC>caT	p.H291H	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	291						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTCAGTGTGGTGTGCCGTGA	0.393																																						uc001cnd.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(871-873)caC>caT		Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.							163	151	154					1																	45553632		1850	4099	5949	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45553632G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.873C>T	1.37:g.45553632G>A							p.H291H	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			1	1101	-	Acute lymphoblastic leukemia(166;0.155)		291					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.873C>T	CCDS41319.1																																																																																				0.393	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		A	45553632	G	A	45553632	2	1	117	1	0	0	0	0	0	0	0	1	18241	1252	44	3		3	ZSWIM5	1	45553632	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	19038478	45553632	203696989	4	7936											
AK5	26289	broad.mit.edu	37	chr1	78001682	78001682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctactaccgagcgtccatcCccgtgatcgcctactacgag	8	8	8	17	5	0	1	0	1	0	0	3	3	2	1	6	0	5	0	6	0	4	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:78001682C>T	ENST00000354567.2	+	13	1842	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	AK5_ENST00000478255.1_Missense_Mutation_p.P42S|AK5_ENST00000344720.5_Missense_Mutation_p.P501S	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	527	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCGTCCATCCCCGTGATCGC	0.527																																						uc001dhn.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(1579-1581)Ccc>Tcc		Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.							136	98	111					1																	78001682		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:78001682C>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1579C>T	1.37:g.78001682C>T	ENSP00000346577:p.Pro527Ser					AK5_uc001dho.3_Missense_Mutation_p.P501S	p.P527S	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN			12	1916	+			527					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1579C>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547161	0.86022	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478255	T;T;T	0.79845	-1.31;-1.31;-1.31	5.42	4.46	0.54185	.	0.077720	0.52532	D	0.000062	D	0.88262	0.6389	M	0.81239	2.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89250	0.3590	10	0.87932	D	0	-10.8388	15.8679	0.79080	0.0:0.8644:0.1356:0.0	.	527	Q9Y6K8	KAD5_HUMAN	S	527;501;42	ENSP00000346577:P527S;ENSP00000341430:P501S;ENSP00000433915:P42S	ENSP00000341430:P501S	P	+	1	0	AK5	77774270	0.952000	0.32445	0.989000	0.46669	0.970000	0.65996	2.927000	0.48900	2.720000	0.93068	0.555000	0.69702	CCC		0.527	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		T	78001682	C	T	78001682	3	4	117	1	0	0	0	0	1	0	0	0	443	623	22	3	1629	3	AK5	1	78001682	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	32448050	78001682	171248939	5	7937											
MCOLN3	55283	broad.mit.edu	37	chr1	85498465	85498465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttaaactgaagctccaCtgttaggagtctagaaaaca	15	10	8	8	0	1	2	0	1	1	1	2	3	2	3	1	1	3	3	1	1	7	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:85498465C>T	ENST00000370589.2	-	6	698	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	MCOLN3_ENST00000341115.4_Missense_Mutation_p.V160M|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V216M|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	216					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGAAGCTCCACTGTTAGGAGT	0.438																																						uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(646-648)Gtg>Atg		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.							167	159	162					1																	85498465		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85498465C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.646G>A	1.37:g.85498465C>T	ENSP00000359621:p.Val216Met					MCOLN3_uc001dkq.3_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.3_Missense_Mutation_p.V216M|MCOLN3_uc001dks.4_Missense_Mutation_p.V61M	p.V216M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	5	793	-			216					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.646G>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039127	0.75617	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.32753	1.44;1.44;1.44	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.82323	2.585	0.48830	D	0.999717	D;P;D;D	0.67145	0.996;0.915;0.985;0.99	P;B;P;P	0.60682	0.878;0.375;0.807;0.799	T	0.38265	-0.9669	10	0.30854	T	0.27	-2.7085	10.888	0.46978	0.0:0.7994:0.1303:0.0703	.	216;216;160;216	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	M	216;216;160;160;216	ENSP00000359621:V216M;ENSP00000342698:V160M;ENSP00000359619:V216M	ENSP00000304843:V216M	V	-	1	0	MCOLN3	85271053	0.974000	0.33945	1.000000	0.80357	0.987000	0.75469	2.439000	0.44846	1.368000	0.46115	0.650000	0.86243	GTG		0.438	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		T	85498465	C	T	85498465	3	4	117	1	0	0	0	0	1	0	0	0	9397	565	20	3	1047	3	MCOLN3	1	85498465	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7496783	85498465	163752156	6	7938											
INSRR	3645	broad.mit.edu	37	chr1	156811514	156811514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcgggggccatccagCgcacgggcagcagccccttc	6	4	15	16	3	0	0	0	0	0	0	3	1	1	1	4	4	3	3	4	4	0	1	rs139192917		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:156811514C>T	ENST00000368195.3	-	20	3866	c.3470G>A	c.(3469-3471)cGc>cAc	p.R1157H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCATCCAGCGCACGGGCAG	0.627																																						uc010pht.2																			0		p.R1157R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3469-3471)cGc>cAc		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.		C	,HIS/ARG	0,4406		0,0,2203	77	74	75		,3470	5.1	1	1	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,probably-damaging	,1157/1298	156811514	2,13004	2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811514C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3470G>A	1.37:g.156811514C>T	ENSP00000357178:p.Arg1157His					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.R1157H	NM_014215	NP_055030	P14616	INSRR_HUMAN			19	3769	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1157			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3470G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997017	0.93167	0.0	2.33E-4	ENSG00000027644	ENST00000368195	D	0.83591	-1.74	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.90342	0.6978	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91266	0.5040	9	0.87932	D	0	.	17.1753	0.86840	0.0:1.0:0.0:0.0	.	1157	P14616	INSRR_HUMAN	H	1157	ENSP00000357178:R1157H	ENSP00000357178:R1157H	R	-	2	0	INSRR	155078138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.590000	0.82653	2.639000	0.89480	0.561000	0.74099	CGC		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156811514	C	T	156811514	3	4	117	1	0	0	0	0	1	0	0	0	7774	768	27	1	434	1	INSRR	1	156811514	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	71313049	156811514	92439107	7	7939											
CD1B	910	broad.mit.edu	37	chr1	158299678	158299678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcctgcattgaggaCgcccaagagatatcgggggc	8	10	13	10	2	0	2	0	1	0	1	2	4	1	3	2	3	2	2	2	3	2	4	rs186845827	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158299678C>T	ENST00000368168.3	-	3	678	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	191	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCATTGAGGACGCCCAAGAGA	0.438													C|||	2	0.000399361	0	0	5008	,	,		20608	0.001		0	False		,,,				2504	0.001					uc001frx.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(571-573)Gtc>Atc		Homo sapiens CD1b molecule (CD1B), mRNA.							143	132	136					1																	158299678		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299678C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.571G>A	1.37:g.158299678C>T	ENSP00000357150:p.Val191Ile					CD1B_uc001frw.3_Missense_Mutation_p.V191I	p.V191I	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	679	-	all_hematologic(112;0.0378)		191			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.571G>A	CCDS1176.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	9.413|9.413	1.081067|1.081067	0.20309|0.20309	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.06608	.|3.28	4.46|4.46	-4.34|-4.34	0.03666|0.03666	.|Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.761563	.|0.11226	.|N	.|0.586174	T|T	0.01254|0.01254	0.0041|0.0041	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27450	.|0.007;0.179	.|B;B	.|0.12156	.|0.004;0.007	T|T	0.44937|0.44937	-0.9295|-0.9295	5|10	.|0.59425	.|D	.|0.04	-16.7626|-16.7626	5.5789|5.5789	0.17238|0.17238	0.0:0.2357:0.4053:0.359|0.0:0.2357:0.4053:0.359	.|.	.|191;191	.|P29016;P29016-2	.|CD1B_HUMAN;.	H|I	158|191	.|ENSP00000357150:V191I	.|ENSP00000357150:V191I	R|V	-|-	2|1	0|0	CD1B|CD1B	156566302|156566302	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.890000|-0.890000	0.04140|0.04140	-0.601000|-0.601000	0.05783|0.05783	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC		0.438	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		T	158299678	C	T	158299678	3	4	117	1	0	0	0	0	1	0	0	0	2975	536	19	1	446	1	CD1B	1	158299678	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	1488164	158299678	90950943	8	7940											
OR10R2	343406	broad.mit.edu	37	chr1	158449688	158449688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccccaaattcttatattCacatacctgaatatgtttta	13	16	3	9	0	2	1	1	1	1	0	2	1	2	1	3	0	2	1	3	0	7	8			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158449688C>G	ENST00000368152.1	+	1	21	c.21C>G	c.(19-21)ttC>ttG	p.F7L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCTTATATTCACATACCTGA	0.433																																						uc010pik.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(19-21)ttC>ttG		Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.							145	141	143					1																	158449688		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449688C>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.21C>G	1.37:g.158449688C>G	ENSP00000357134:p.Phe7Leu					AK057554_uc001fso.1_Intron	p.F7L	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			0	21	+	all_hematologic(112;0.0378)		7					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.21C>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	9.276	1.047007	0.19748	.	.	ENSG00000198965	ENST00000368152	T	0.00001	9.91	4.29	1.25	0.21368	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35151	-0.9800	9	0.13470	T	0.59	.	6.74	0.23431	0.0:0.6803:0.0:0.3197	.	7	Q8NGX6	O10R2_HUMAN	L	7	ENSP00000357134:F7L	ENSP00000357134:F7L	F	+	3	2	OR10R2	156716312	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	0.414000	0.25790	0.591000	0.81541	TTC		0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		G	158449688	C	G	158449688	3	3	117	1	0	0	0	0	1	0	0	0	10917	825	29	5	23	5	OR10R2	1	158449688	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	150010	158449688	90800933	9	7941											
LY9	4063	broad.mit.edu	37	chr1	160786529	160786529	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaggaagctgttgtgtcCcaaggggaatcacacctcaa	13	7	11	10	0	2	1	2	0	0	1	3	3	3	3	2	3	1	2	2	3	5	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:160786529C>G	ENST00000263285.6	+	5	1248	c.1218C>G	c.(1216-1218)tcC>tcG	p.S406S	LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Silent_p.S58S|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368037.5_Silent_p.S406S			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	406	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTTGTGTCCCAAGGGGAAT	0.557																																						uc001fwu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1216-1218)tcC>tcG		Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.							144	120	128					1																	160786529		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160786529C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1218C>G	1.37:g.160786529C>G						LY9_uc001fwv.3_Silent_p.S406S|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.S58S	p.S406S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	1268	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		406			Ig-like C2-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.1218C>G	CCDS30916.1																																																																																				0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		G	160786529	C	G	160786529	2	3	117	1	0	0	0	0	0	0	0	1	9101	610	22	5		5	LY9	1	160786529	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	2336841	160786529	88464092	10	7942											
CR2	1380	broad.mit.edu	37	chr1	207648560	207648560	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccaacttgtatcaaaaaAggtaagatacttggaaggga	16	9	11	5	0	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	8	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:207648560A>C	ENST00000367058.3	+	13	2727	c.2538A>C	c.(2536-2538)aaA>aaC	p.K846N	CR2_ENST00000458541.2_Splice_Site_p.K819N|CR2_ENST00000367057.3_Splice_Site_p.K905N|CR2_ENST00000367059.3_Splice_Site_p.K846N	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	846					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATCAAAAAAGGTAAGATAC	0.398																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.e13+1		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							122	117	119					1																	207648560		2203	4300	6503	SO:0001630	splice_region_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648560A>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2539+1A>C	1.37:g.207648560A>C						CR2_uc001hfv.3_Splice_Site_p.A906_splice|CR2_uc009xch.3_Splice_Site_p.E847_splice	p.A847_splice	NM_001877	NP_001868	P20023	CR2_HUMAN			13	2658	+			847					C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2539_splice	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020551	0.35606	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.35789	1.4;1.29;1.39;1.34	4.69	-4.85	0.03142	.	.	.	.	.	T	0.39627	0.1085	L	0.43152	1.355	0.20873	N	0.999835	P;D;D	0.69078	0.941;0.994;0.997	P;P;P	0.62491	0.701;0.786;0.903	T	0.32613	-0.9900	9	0.44086	T	0.13	.	6.1203	0.20150	0.5485:0.0:0.3217:0.1298	.	846;846;905	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	N	846;905;846;819	ENSP00000356025:K846N;ENSP00000356024:K905N;ENSP00000356026:K846N;ENSP00000404222:K819N	ENSP00000356024:K905N	K	+	3	2	CR2	205715183	0.013000	0.17824	0.015000	0.15790	0.735000	0.41995	-0.819000	0.04462	-1.005000	0.03417	-0.182000	0.12963	AAA		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	Missense_Mutation	C	207648560	A	C	207648560	5	2	117	1	0	0	0	0	0	0	1	0	3842	86	3	5	2769	5	CR2	1	207648560	Splice_Site	SNP	A	TCGA-12-0821-01A-01W-0424-08	46862031	207648560	41602061	11	7943											
DCTN1	1639	broad.mit.edu	37	chr2	74592698	74592698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgagtctggactttctcGatgcgctcatctgcatcctt	6	13	9	13	3	4	0	1	0	3	0	6	3	5	1	2	1	3	2	2	1	0	2	rs140969689		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:74592698G>A	ENST00000361874.3	-	25	3290	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	DCTN1_ENST00000409868.1_Silent_p.I974I|DCTN1_ENST00000409567.3_Silent_p.I971I|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Silent_p.I984I|DCTN1_ENST00000409240.1_Silent_p.I954I|DCTN1_ENST00000407639.2_Silent_p.I857I|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Silent_p.I857I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	991					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGACTTTCTCGATGCGCTCAT	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		20796	0		0	False		,,,				2504	0					uc002skx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2971-2973)atC>atT		Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.							103	97	99					2																	74592698		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74592698G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2973C>T	2.37:g.74592698G>A						SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I857I|DCTN1_uc002sku.3_Silent_p.I857I|DCTN1_uc002skw.2_Silent_p.I984I|DCTN1_uc010ffd.3_Silent_p.I971I|DCTN1_uc002sky.3_Silent_p.I954I	p.I991I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			24	3291	-			991					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.2973C>T	CCDS1939.1																																																																																				0.577	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		A	74592698	G	A	74592698	2	1	117	1	0	0	0	0	0	0	0	1	4306	1048	37	2		2	DCTN1	2	74592698	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		74592698	168606675	12	7944											
PSD4	23550	broad.mit.edu	37	chr2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccccctcttcctggCgagtccttgctcagagaaca	9	8	8	16	1	2	1	1	0	1	1	4	3	4	1	4	1	4	2	4	1	2	2	rs201700173		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:113940791C>T	ENST00000245796.6	+	2	953	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_ENST00000441564.3_Missense_Mutation_p.A253V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	253					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(757-759)gCg>gTg		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.							95	94	95					2																	113940791		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940791C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.758C>T	2.37:g.113940791C>T	ENSP00000245796:p.Ala253Val					PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.A252V|PSD4_uc002tjf.3_5'Flank	p.A253V	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			1	941	+			253					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.758C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647658	0.47258	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10288	2.91;2.89	5.83	3.32	0.38043	.	0.513843	0.20444	N	0.092229	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.0	T	0.40813	-0.9543	9	.	.	.	.	6.2159	0.20656	0.7554:0.1613:0.0832:0.0	.	253;253	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	V	253	ENSP00000245796:A253V;ENSP00000413997:A253V	.	A	+	2	0	PSD4	113657262	0.994000	0.37717	0.950000	0.38849	0.725000	0.41563	1.595000	0.36708	0.462000	0.27095	-1.139000	0.01908	GCG		0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113940791	C	T	113940791	3	4	117	1	0	0	0	0	1	0	0	0	12649	768	27	1	760	1	PSD4	2	113940791	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	39348093	113940791	129258582	13	7945											
SCN9A	6335	broad.mit.edu	37	chr2	167056293	167056293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgactagacgtaggattCggccaatcctggcaagacgg	10	9	12	10	3	0	3	0	1	0	2	2	4	1	4	2	4	0	2	2	4	4	4	rs142201175		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:167056293C>T	ENST00000409435.1	-	26	4855	c.4856G>A	c.(4855-4857)cGa>cAa	p.R1619Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1620Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1608Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1620Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1619					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1608Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGTAGGATTCGGCCAATCCT	0.483																																						uc010fpl.3																			1	Substitution - Missense(1)	p.R1608Q(2)	skin(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4822-4824)cGa>cAa		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						139	142	141					2																	167056293		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056293C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4856G>A	2.37:g.167056293C>T	ENSP00000386330:p.Arg1619Gln					BC051759_uc002udp.3_Non-coding_Transcript	p.R1608Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	5164	-			1619					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4823G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732159	0.89390	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.74	5.74	0.90152	.	0.086137	0.43260	D	0.000587	D	0.99849	0.9930	H	0.98980	4.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.96651	0.9481	10	0.87932	D	0	.	19.9095	0.97021	0.0:1.0:0.0:0.0	.	1608	E7EUN6	.	Q	1608;1620;1620;1619	ENSP00000386306:R1608Q;ENSP00000364536:R1620Q;ENSP00000304748:R1620Q;ENSP00000386330:R1619Q	ENSP00000304748:R1620Q	R	-	2	0	SCN9A	166764539	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.670000	0.83925	2.701000	0.92244	0.650000	0.86243	CGA		0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167056293	C	T	167056293	3	4	117	1	0	0	0	0	1	0	0	0	13925	884	31	2	1114	2	SCN9A	2	167056293	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	53115502	167056293	76143080	14	7946											
FRZB	2487	broad.mit.edu	37	chr2	183703198	183703198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcattaacattaagtggagGgcagaggcagccagagctgg	12	7	14	8	0	1	2	1	0	0	2	1	3	1	3	1	4	3	3	1	4	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:183703198G>A	ENST00000295113.4	-	4	1345	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	246	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAAGTGGAGGGCAGAGGCAG	0.438																																						uc002upa.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(736-738)Cct>Tct		Homo sapiens frizzled-related protein (FRZB), mRNA.							120	114	116					2																	183703198		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183703198G>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.736C>T	2.37:g.183703198G>A	ENSP00000295113:p.Pro246Ser						p.P246S	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		3	954	-			246			NTR.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.736C>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965422	0.92855	.	.	ENSG00000162998	ENST00000295113	T	0.55930	0.49	5.39	5.39	0.77823	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76780	-0.2833	10	0.72032	D	0.01	.	19.1853	0.93641	0.0:0.0:1.0:0.0	.	246	Q92765	SFRP3_HUMAN	S	246	ENSP00000295113:P246S	ENSP00000295113:P246S	P	-	1	0	FRZB	183411443	1.000000	0.71417	0.965000	0.40720	0.844000	0.47949	9.785000	0.99042	2.522000	0.85027	0.557000	0.71058	CCT		0.438	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		A	183703198	G	A	183703198	3	1	117	1	0	0	0	0	1	0	0	0	6065	1232	43	3	253	3	FRZB	2	183703198	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	16646905	183703198	59496175	15	7947											
COL5A2	1290	broad.mit.edu	37	chr2	189927922	189927923	+	Frame_Shift_Ins	INS	-	-	C																															tacctttggggcctggaaggINScccatgctcccgggctgccc																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:189927922_189927923insC	ENST00000374866.3	-	27	2118_2119	c.1844_1845insG	c.(1843-1845)ggcfs	p.G615fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	615					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCTGGAAGGCCCATGCTCCC	0.52																																						uc002uqk.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1843-1845)ggcfs		Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.																																				SO:0001589	frameshift_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927922_189927923insC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1845dupG	2.37:g.189927925_189927925dupC	ENSP00000364000:p.Gly615fs					COL5A2_uc010frx.3_Frame_Shift_Ins_p.G191fs	p.G615fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		26	2119_2120	-			615					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Ins	INS	ENST00000374866.3	37	c.1844_1845insG	CCDS33350.1																																																																																				0.52	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		C	189927923	-	C	189927922	7	5	117	1	0	1	1	0	0	0	0	0	3697	1190	42	0	2766	0	COL5A2	2	189927922	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	6224724	189927922	53271451	16	7948											
IRS1	3667	broad.mit.edu	37	chr2	227659846	227659846	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagggggtgggggTgggggaggctgcggttcagg	4	8	26	3	1	1	2	1	2	0	0	1	3	1	3	0	10	1	3	0	10	0	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						uc021vxn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							30	40	37					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_uc002voh.4_Silent_p.P1203P	p.P1203P	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	3609	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		G	227659846	T	G	227659846	2	3	117	1	0	0	0	0	0	0	0	1	7840	1683	59	5		5	IRS1	2	227659846	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	37731924	227659846	15539527	17	7949											
ECEL1	9427	broad.mit.edu	37	chr2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtgggggtctcacccGctggttgtagacagtgaagt	7	9	17	8	1	1	2	1	1	1	1	2	2	1	2	1	5	0	4	1	5	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:233346218G>A	ENST00000304546.1	-	14	2197	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	663					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCTCACCCGCTGGTTGTAG	0.622																																						uc002vsv.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1987-1989)Cgg>Tgg		Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.							45	45	45					2																	233346218		2202	4300	6502	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346218G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1987C>T	2.37:g.233346218G>A	ENSP00000302051:p.Arg663Trp					ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	p.R663W	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	13	2192	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	663					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1987C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915669	0.73098	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.90732	-1.71;-2.72;-2.72	5.21	4.32	0.51571	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.052706	0.64402	D	0.000001	D	0.94251	0.8154	M	0.75884	2.315	0.53005	D	0.999965	D;D	0.76494	0.997;0.999	P;D	0.68353	0.766;0.957	D	0.93931	0.7214	10	0.46703	T	0.11	-33.0649	13.9204	0.63928	0.0:0.0:0.5619:0.4381	.	661;663	O95672-2;O95672	.;ECEL1_HUMAN	W	78;663;661	ENSP00000412683:R78W;ENSP00000302051:R663W;ENSP00000386333:R661W	ENSP00000302051:R663W	R	-	1	2	ECEL1	233054462	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.364000	0.52328	1.317000	0.45149	0.558000	0.71614	CGG		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		A	233346218	G	A	233346218	3	1	117	1	0	0	0	0	1	0	0	0	4891	1086	38	1	360	1	ECEL1	2	233346218	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	5686372	233346218	9853155	18	7950											
OXSR1	9943	broad.mit.edu	37	chr3	38278405	38278405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagtggagtgatgatgaaTttgatgaagaaagtgaggaa	15	9	17	0	0	0	7	0	6	0	1	0	10	0	10	0	3	0	0	0	3	4	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:38278405T>C	ENST00000446845.1	+	11	1399	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	OXSR1_ENST00000311806.3_Missense_Mutation_p.F343L					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATGATGAATTTGATGAAGA	0.423																																						uc003chy.3																			0				skin(1)	1						c.(1027-1029)Ttt>Ctt		Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.							139	148	145					3																	38278405		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38278405T>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1027T>C	3.37:g.38278405T>C	ENSP00000415851:p.Phe343Leu					OXSR1_uc010hhb.3_Missense_Mutation_p.F277L	p.F343L	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	10	1369	+			343						Missense_Mutation	SNP	ENST00000446845.1	37	c.1027T>C		.	.	.	.	.	.	.	.	.	.	T	10.51	1.370898	0.24771	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.70986	-0.53;-0.5	4.85	3.67	0.42095	.	0.160951	0.56097	N	0.000026	T	0.34774	0.0909	N	0.01168	-0.975	0.34760	D	0.732644	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	10	0.10636	T	0.68	-4.4109	6.2171	0.20661	0.0:0.2901:0.0:0.7099	.	343	O95747	OXSR1_HUMAN	L	343	ENSP00000415851:F343L;ENSP00000311713:F343L	ENSP00000311713:F343L	F	+	1	0	OXSR1	38253409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.073000	0.41519	0.804000	0.34136	0.454000	0.30748	TTT		0.423	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		C	38278405	T	C	38278405	3	2	117	1	0	0	0	0	1	0	0	0	11336	1493	52	4	1069	4	OXSR1	3	38278405	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		38278405	159744025	19	7951											
PRSS50	29122	broad.mit.edu	37	chr3	46759087	46759087	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtcggcgggatcagcAgtggacagcgcccccggggc	5	5	17	14	4	2	0	1	0	1	0	3	2	2	2	2	6	2	1	2	6	0	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:46759087A>C	ENST00000460241.1	-	7	1817	c.147T>G	c.(145-147)acT>acG	p.T49T	PRSS50_ENST00000315170.7_Silent_p.T49T			Q9UI38	TSP50_HUMAN	protease, serine, 50	49					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGATCAGCAGTGGACAGCG	0.706																																					Pancreas(41;915 1239 11561 17469)	uc003cqe.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(145-147)acT>acG		Homo sapiens protease, serine, 50 (PRSS50), mRNA.							54	56	55					3																	46759087		2203	4299	6502	SO:0001819	synonymous_variant	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759087A>C	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.147T>G	3.37:g.46759087A>C						PRSS50_uc021wxe.1_Silent_p.T49T|PRSS50_uc003cqf.2_Intron	p.T49T	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN			1	629	-			49						Silent	SNP	ENST00000460241.1	37	c.147T>G	CCDS2745.1																																																																																				0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			C	46759087	A	C	46759087	2	2	117	1	0	0	0	0	0	0	0	1	12631	175	7	5		5	PRSS50	3	46759087	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	8480682	46759087	151263343	20	7952											
CNTN3	5067	broad.mit.edu	37	chr3	74420493	74420493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgggagacaaatctcCgactatcttcttcaacaaac	12	11	5	13	1	5	1	1	0	4	1	7	3	5	1	2	1	2	0	2	1	4	3	rs367688857		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:74420493C>T	ENST00000263665.6	-	5	539	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	171	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R171Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACAAATCTCCGACTATCTTC	0.403																																						uc003dpm.1																			1	Substitution - Missense(1)	p.R171Q(2)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(511-513)cGg>cAg		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95	91	92		512	5.8	1	3		92	0,8600		0,0,4300	no	missense	CNTN3	NM_020872.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	171/1029	74420493	1,13005	2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74420493C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.512G>A	3.37:g.74420493C>T	ENSP00000263665:p.Arg171Gln						p.R171Q	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	4	592	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	171			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.512G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	36	5.782384	0.96937	2.27E-4	0.0	ENSG00000113805	ENST00000263665	D	0.81739	-1.53	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94218	0.7465	10	0.87932	D	0	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	171	Q9P232	CNTN3_HUMAN	Q	171	ENSP00000263665:R171Q	ENSP00000263665:R171Q	R	-	2	0	CNTN3	74503183	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.538000	0.82048	2.746000	0.94184	0.655000	0.94253	CGG		0.403	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		T	74420493	C	T	74420493	3	4	117	1	0	0	0	0	1	0	0	0	3642	652	23	2	2646	2	CNTN3	3	74420493	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	27661406	74420493	123601937	21	7953											
OR5H6	79295	broad.mit.edu	37	chr3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatcttatacaattatccTctttacaatcttagaaaaga	16	16	2	7	0	3	2	0	0	3	2	4	2	4	2	1	0	2	0	1	0	11	8			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:97983841T>C	ENST00000383696.2	+	1	754	c.713T>C	c.(712-714)cTc>cCc	p.L238P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353																																						uc003dsi.1																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(712-714)cTc>cCc		Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.							42	43	42					3																	97983841		2203	4297	6500	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983841T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.713T>C	3.37:g.97983841T>C	ENSP00000373196:p.Leu238Pro						p.L238P	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			0	713	+			238					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.713T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	12.38	1.919630	0.33908	.	.	ENSG00000230301	ENST00000383696	T	0.00249	8.44	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	N	0.001629	T	0.00580	0.0019	M	0.91510	3.215	0.09310	N	0.99999	D	0.89917	1.0	D	0.79108	0.992	T	0.26360	-1.0105	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	238	Q8NGV6	OR5H6_HUMAN	P	238	ENSP00000373196:L238P	ENSP00000373196:L238P	L	+	2	0	OR5H6	99466531	0.055000	0.20627	0.025000	0.17156	0.012000	0.07955	2.741000	0.47426	1.006000	0.39211	0.163000	0.16589	CTC		0.353	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983841	T	C	97983841	3	2	117	1	0	0	0	0	1	0	0	0	11163	1551	54	4	715	4	OR5H6	3	97983841	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	23563348	97983841	100038589	22	7954											
CCDC54	84692	broad.mit.edu	37	chr3	107096949	107096949	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcacagaactgctttacaAactcatacaaccagcaactc	17	8	3	13	0	2	1	2	0	0	1	3	1	2	1	1	0	8	2	1	0	7	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:107096949A>C	ENST00000261058.1	+	1	762	c.515A>C	c.(514-516)aAa>aCa	p.K172T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	172										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGCTTTACAAACTCATACAA	0.433																																						uc003dwi.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(514-516)aAa>aCa		Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.							83	74	77					3																	107096949		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107096949A>C	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.515A>C	3.37:g.107096949A>C	ENSP00000261058:p.Lys172Thr						p.K172T	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			0	762	+			172					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.515A>C	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	a	9.268	1.044954	0.19748	.	.	ENSG00000138483	ENST00000261058	T	0.47177	0.85	5.23	1.51	0.23008	.	0.475950	0.18041	N	0.153605	T	0.51686	0.1689	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.57152	0.814	T	0.42498	-0.9448	10	0.66056	D	0.02	-15.8926	2.9252	0.05781	0.6199:0.0:0.1967:0.1834	.	172	Q8NEL0	CCD54_HUMAN	T	172	ENSP00000261058:K172T	ENSP00000261058:K172T	K	+	2	0	CCDC54	108579639	0.002000	0.14202	0.002000	0.10522	0.023000	0.10783	1.281000	0.33214	0.299000	0.22661	0.377000	0.23210	AAA		0.433	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		C	107096949	A	C	107096949	3	2	117	1	0	0	0	0	1	0	0	0	2824	14	1	5	517	5	CCDC54	3	107096949	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	9113108	107096949	90925481	23	7955											
ATR	545	broad.mit.edu	37	chr3	142234329	142234329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctttactccagaccAatcggttgacttctgagaac	9	13	8	11	1	2	3	0	2	2	2	4	4	3	3	2	2	2	2	2	2	3	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:142234329A>G	ENST00000350721.4	-	25	4532	c.4411T>C	c.(4411-4413)Tgg>Cgg	p.W1471R	ATR_ENST00000383101.3_Missense_Mutation_p.W1407R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1471					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACTCCAGACCAATCGGTTGAC	0.318								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4411-4413)Tgg>Cgg	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							68	67	68					3																	142234329		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142234329A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4411T>C	3.37:g.142234329A>G	ENSP00000343741:p.Trp1471Arg						p.W1471R	NM_001184	NP_001175	Q13535	ATR_HUMAN			24	4533	-			1471					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4411T>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.952815	0.34471	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.20738	3.47;2.05	5.87	5.87	0.94306	Armadillo-like helical (1);	0.063176	0.64402	D	0.000002	T	0.43055	0.1230	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.18147	-1.0346	10	0.23891	T	0.37	-1.8803	16.2736	0.82632	1.0:0.0:0.0:0.0	.	1471	Q13535	ATR_HUMAN	R	1471;1407	ENSP00000343741:W1471R;ENSP00000372581:W1407R	ENSP00000343741:W1471R	W	-	1	0	ATR	143717019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.008000	0.93601	2.247000	0.74100	0.477000	0.44152	TGG		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		G	142234329	A	G	142234329	3	3	117	1	0	0	0	0	1	0	0	0	1204	130	5	4	3615	4	ATR	3	142234329	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	35137380	142234329	55788101	24	7956											
LEKR1	389170	broad.mit.edu	37	chr3	156710933	156710933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatatataaagcattacagGaagagctgactgtgaaagaa	19	8	10	4	0	0	5	0	2	0	3	0	6	0	6	0	1	3	2	0	1	8	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:156710933G>A	ENST00000470811.1	+	10	1399	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E326K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	22										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCATTACAGGAAGAGCTGAC	0.348																																						uc021xgh.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(976-978)Gaa>Aaa		Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.							66	69	68					3																	156710933		2203	4298	6501	SO:0001583	missense	389170							g.chr3:156710933G>A	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.64G>A	3.37:g.156710933G>A	ENSP00000418214:p.Glu22Lys					LEKR1_uc003fba.1_Non-coding_Transcript	p.E326K	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		8	1090	+			42						Missense_Mutation	SNP	ENST00000470811.1	37	c.976G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.212607	0.79240	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.56611	0.45;0.66	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000040	T	0.69540	0.3122	M	0.70275	2.135	0.41365	D	0.987456	D	0.89917	1.0	D	0.87578	0.998	T	0.66724	-0.5851	10	0.18710	T	0.47	-11.3239	16.4038	0.83651	0.0:0.0:1.0:0.0	.	22	Q6ZMV7	LEKR1_HUMAN	K	22;326	ENSP00000418214:E22K;ENSP00000348936:E326K	ENSP00000348936:E326K	E	+	1	0	LEKR1	158193627	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.745000	0.68672	2.203000	0.70933	0.591000	0.81541	GAA		0.348	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		A	156710933	G	A	156710933	3	1	117	1	0	0	0	0	1	0	0	0	8717	1175	41	3	1006	3	LEKR1	3	156710933	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	14476604	156710933	41311497	25	7957											
TNK2	10188	broad.mit.edu	37	chr3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G																															ccacgtcgtcataggcgggcINSggggggggcagcgggcgtgc																								rs541695993	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						uc003fvu.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)ccgfs		Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	p.P632fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2438_2439	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		G	195595229	-	G	195595228	7	5	117	1	0	1	1	0	0	0	0	0	16315	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	38884295	195595228	2427202	26	7958											
FGFRL1	53834	broad.mit.edu	37	chr4	1018839	1018839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagaagaagccgtgcAcccccgcgcctgcccctccc	7	3	10	21	3	0	2	0	0	0	2	1	2	1	2	8	1	3	1	8	1	2	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:1018839A>C	ENST00000398484.2	+	8	1799	c.1219A>C	c.(1219-1221)Acc>Ccc	p.T407P	FGFRL1_ENST00000504138.1_Missense_Mutation_p.T407P|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.T407P|FGFRL1_ENST00000264748.6_Missense_Mutation_p.T407P			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	407					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGCCGTGCACCCCCGCGCC	0.731																																						uc003gce.3																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1219-1221)Acc>Ccc		Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.							12	15	14					4																	1018839		2189	4274	6463	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018839A>C		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1219A>C	4.37:g.1018839A>C	ENSP00000381498:p.Thr407Pro					FGFRL1_uc003gcf.3_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.3_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.3_Missense_Mutation_p.T407P	p.T407P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1380	+			407					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1219A>C	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237001	0.10023	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.75	-1.98	0.07480	.	0.471231	0.24502	N	0.037974	T	0.34832	0.0911	N	0.01874	-0.695	0.20489	N	0.999893	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	10	0.37606	T	0.19	-9.9813	4.6629	0.12652	0.1985:0.0:0.3108:0.4907	.	407	Q8N441	FGRL1_HUMAN	P	407;377;407;407;407	ENSP00000381498:T407P;ENSP00000425025:T407P;ENSP00000423091:T407P;ENSP00000264748:T407P	ENSP00000264748:T407P	T	+	1	0	FGFRL1	1008839	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.099000	0.15210	-0.157000	0.11059	0.533000	0.62120	ACC		0.731	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		C	1018839	A	C	1018839	3	2	117	1	0	0	0	0	1	0	0	0	5869	159	6	5	1241	5	FGFRL1	4	1018839	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08		1018839	190135437	27	7959											
DRD5	1816	broad.mit.edu	37	chr4	9784657	9784657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccggccggcttcccctGcgtcagtgagaccaccttcg	4	8	10	19	4	1	1	1	1	0	1	4	2	3	1	7	2	1	1	7	2	0	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:9784657G>T	ENST00000304374.2	+	1	1400	c.1004G>T	c.(1003-1005)tGc>tTc	p.C335F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	335					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCTTCCCCTGCGTCAGTGAG	0.587																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1003-1005)tGc>tTc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						91	92	92					4																	9784657		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784657G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1004G>T	4.37:g.9784657G>T	ENSP00000306129:p.Cys335Phe						p.C335F	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1400	+			335					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1004G>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	19.99	3.928441	0.73327	.	.	ENSG00000169676	ENST00000304374	T	0.36699	1.24	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68815	-0.5309	10	0.72032	D	0.01	.	16.9019	0.86116	0.0:0.0:1.0:0.0	.	335	P21918	DRD5_HUMAN	F	335	ENSP00000306129:C335F	ENSP00000306129:C335F	C	+	2	0	DRD5	9393755	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.202000	0.95026	2.457000	0.83068	0.460000	0.39030	TGC		0.587	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9784657	G	T	9784657	3	4	117	1	0	0	0	0	1	0	0	0	4760	1319	46	5	1006	5	DRD5	4	9784657	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	8765818	9784657	181369619	28	7960											
NKX3-2	579	broad.mit.edu	37	chr4	13543971	13543971	+	Silent	SNP	C	C	G																															cgctccagctcgaagacctgCgcgtgggagaaagcggcccg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543971C>G	ENST00000382438.5	-	2	1283	c.648G>C	c.(646-648)gcG>gcC	p.A216A		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	216					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGAAGACCTGCGCGTGGGAGA	0.741																																						uc003gmx.2																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(646-648)gcG>gcC		Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.																																				SO:0001819	synonymous_variant	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543971C>G	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.648G>C	4.37:g.13543971C>G							p.A216A	NM_001189	NP_001180	P78367	NKX32_HUMAN			1	724	-			216					Q2M2I7	Silent	SNP	ENST00000382438.5	37	c.648G>C	CCDS3410.1																																																																																				0.741	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			G	13543971	C	G	13543971	2	3	117	1	0	0	0	0	0	0	0	1	10456	755	27	5		5	NKX3-2	4	13543971	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	3759314	13543971	177610305	29	7961	11	2									
NKX3-2	579	broad.mit.edu	37	chr4	13543978	13543978	+	Missense_Mutation	SNP	G	G	A																															gctcgaagacctgcgcgtggGagaaagcggcccgcgagcgc																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543978G>A	ENST00000382438.5	-	2	1276	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	214					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGCGCGTGGGAGAAAGCGGC	0.751																																						uc003gmx.2																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(640-642)tCc>tTc		Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.							4	6	5					4																	13543978		2074	4158	6232	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543978G>A	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.641C>T	4.37:g.13543978G>A	ENSP00000371875:p.Ser214Phe						p.S214F	NM_001189	NP_001180	P78367	NKX32_HUMAN			1	717	-			214					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.641C>T	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138743	0.94560	.	.	ENSG00000109705	ENST00000382438	D	0.96459	-4.02	5.3	4.45	0.53987	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98802	1.0740	10	0.87932	D	0	.	12.1017	0.53788	0.0842:0.0:0.9158:0.0	.	214	P78367	NKX32_HUMAN	F	214	ENSP00000371875:S214F	ENSP00000371875:S214F	S	-	2	0	NKX3-2	13153076	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	6.556000	0.73932	2.480000	0.83734	0.555000	0.69702	TCC		0.751	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			A	13543978	G	A	13543978	3	1	117	1	0	0	0	0	1	0	0	0	10456	1174	41	3	364	3	NKX3-2	4	13543978	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	7	13543978	177610298	30	7962	11	2									
KLF3	51274	broad.mit.edu	37	chr4	38698729	38698729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccctacaaatgtacatggGaagggtgcacatggaagttt	14	9	11	7	0	0	0	0	0	0	0	0	2	0	2	1	3	4	3	1	3	6	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:38698729G>T	ENST00000261438.5	+	6	1188	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	295					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGTACATGGGAAGGGTGCAC	0.403																																						uc003gth.4																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(883-885)Gaa>Taa		Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.							110	101	104					4																	38698729		2203	4300	6503	SO:0001587	stop_gained	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38698729G>T	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.883G>T	4.37:g.38698729G>T	ENSP00000261438:p.Glu295*						p.E295*	NM_016531	NP_057615	P57682	KLF3_HUMAN			5	1215	+			295					Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	ENST00000261438.5	37	c.883G>T	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	G	39	7.541076	0.98348	.	.	ENSG00000109787	ENST00000261438	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	295	.	ENSP00000261438:E295X	E	+	1	0	KLF3	38375124	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAA		0.403	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			T	38698729	G	T	38698729	4	4	117	1	0	0	0	0	0	1	0	0	8347	1175	41	5	901	5	KLF3	4	38698729	Nonsense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	25154751	38698729	152455547	31	7963											
TLL1	7092	broad.mit.edu	37	chr4	166978363	166978363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtgccaaacctgaccGtggaggctgtgagcagcgat	9	8	15	9	2	0	3	0	3	0	0	0	5	0	4	3	2	4	2	3	2	1	0	rs141877254	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:166978363G>A	ENST00000061240.2	+	14	2395	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	TLL1_ENST00000507499.1_Missense_Mutation_p.R606H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	583	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACCTGACCGTGGAGGCTGT	0.473													G|||	3	0.000599042	0	0	5008	,	,		18023	0.002		0	False		,,,				2504	0.001					uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1747-1749)cGt>cAt		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	175	168	170		1748	4.9	1	4	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TLL1	NM_012464.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	583/1014	166978363	1,13005	2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166978363G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1748G>A	4.37:g.166978363G>A	ENSP00000061240:p.Arg583His					TLL1_uc011cjn.2_Missense_Mutation_p.R606H|TLL1_uc011cjo.2_Missense_Mutation_p.R407H	p.R583H	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	13	2395	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	583			EGF-like 1; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1748G>A	CCDS3811.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.419	0.845919	0.16963	0.0	1.16E-4	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.96522	-4.04;-4.04	5.85	4.9	0.64082	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.121454	0.53938	U	0.000053	D	0.91429	0.7295	N	0.20986	0.625	0.80722	D	1	P;P	0.50617	0.868;0.937	P;P	0.49226	0.502;0.603	D	0.86755	0.1963	10	0.10636	T	0.68	.	3.8709	0.09036	0.3232:0.0:0.6768:0.0	.	606;583	E9PD25;O43897	.;TLL1_HUMAN	H	583;606	ENSP00000061240:R583H;ENSP00000426082:R606H	ENSP00000061240:R583H	R	+	2	0	TLL1	167197813	1.000000	0.71417	0.992000	0.48379	0.107000	0.19398	3.849000	0.55910	2.761000	0.94854	0.650000	0.86243	CGT		0.473	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			A	166978363	G	A	166978363	3	1	117	1	0	0	0	0	1	0	0	0	15942	1145	40	1	1802	1	TLL1	4	166978363	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	128279634	166978363	24175913	32	7964											
GPR98	84059	broad.mit.edu	37	chr5	89910651	89910651	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttttctttttgttttaGggatgccctctgcatcttta	5	23	6	7	0	3	0	0	0	3	0	3	1	3	1	1	1	2	2	1	1	2	9			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:89910651G>T	ENST00000405460.2	+	2	118		c.e2-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTAGGGATGCCCTC	0.274																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.e2-1		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							28	26	26					5																	89910651		1792	4051	5843	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89910651G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.23-1G>T	5.37:g.89910651G>T						GPR98_uc003kjt.3_Splice_Site	p.G8_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	2	119	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	8					O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	c.23_splice	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005677|4.005677	0.74932|0.74932	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000508842;ENST00000405460|ENST00000296619;ENST00000399043	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.82116	.|0.4967	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.83121	.|-0.0118	.|6	.|0.87932	.|D	.|0	.|.	20.3465|20.3465	0.98790|0.98790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|W	-1|8	.|.	.|ENSP00000296619:G8W	.|G	+|+	.|1	.|0	GPR98|GPR98	89946407|89946407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	8.108000|8.108000	0.89559|0.89559	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	.|GGG		0.274	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron	T	89910651	G	T	89910651	5	4	117	1	0	0	0	0	0	0	1	0	6721	1014	35	5	28	5	GPR98	5	89910651	Splice_Site	SNP	G	TCGA-12-0821-01A-01W-0424-08		89910651	91004609	33	7965											
SLCO6A1	133482	broad.mit.edu	37	chr5	101724473	101724473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatttattaacatcccGtaaaatacaagaagtttctc	15	13	3	10	1	1	1	0	0	1	1	4	1	3	1	2	0	2	2	2	0	7	6	rs140805258	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:101724473G>A	ENST00000506729.1	-	12	2107	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R393W|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R393W|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R584W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R646W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	646						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTAACATCCCGTAAAATACAA	0.313													G|||	15	0.00299521	0.0113	0	5008	,	,		15028	0		0	False		,,,				2504	0					uc003knn.3																			0		p.R646L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1936-1938)Cgg>Tgg		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.		G	TRP/ARG	22,4382	29.9+/-59.1	0,22,2180	70	69	70		1936	-0.2	0	5	dbSNP_134	70	0,8590		0,0,4295	yes	missense	SLCO6A1	NM_173488.3	101	0,22,6475	AA,AG,GG		0.0,0.4995,0.1693	benign	646/720	101724473	22,12972	2202	4295	6497	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101724473G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1936C>T	5.37:g.101724473G>A	ENSP00000421339:p.Arg646Trp					SLCO6A1_uc003kno.3_Missense_Mutation_p.R393W|SLCO6A1_uc003knp.3_Missense_Mutation_p.R646W|SLCO6A1_uc003knq.3_Missense_Mutation_p.R584W	p.R646W	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	11	2108	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	646					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1936C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	6.684	0.494894	0.12702	0.004995	0.0	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.06	-0.152	0.13407	Major facilitator superfamily domain, general substrate transporter (1);	0.984997	0.08296	N	0.967665	T	0.05731	0.0150	N	0.02420	-0.555	0.09310	N	1	B;B;B	0.28900	0.227;0.213;0.068	B;B;B	0.24848	0.043;0.056;0.037	T	0.32134	-0.9918	10	0.02654	T	1	.	4.1607	0.10282	0.4524:0.1757:0.3719:0.0	.	584;393;646	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	W	646;646;584;393;393	ENSP00000421339:R646W;ENSP00000369135:R646W;ENSP00000373671:R584W;ENSP00000421990:R393W;ENSP00000369138:R393W	ENSP00000369135:R646W	R	-	1	2	SLCO6A1	101752372	0.080000	0.21391	0.000000	0.03702	0.000000	0.00434	0.611000	0.24268	0.046000	0.15833	-0.157000	0.13467	CGG		0.313	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101724473	G	A	101724473	3	1	117	1	0	0	0	0	1	0	0	0	14732	1144	40	1	231	1	SLCO6A1	5	101724473	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	11813822	101724473	79190787	34	7966											
CD14	929	broad.mit.edu	37	chr5	140011717	140011717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgttccagcccagcgaaCgacagattgagggagttcag	11	7	12	11	2	1	2	1	1	0	1	2	5	2	3	3	1	3	2	3	1	1	3	rs150900616		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:140011717C>T	ENST00000302014.6	-	2	1481	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CD14_ENST00000401743.2_Silent_p.S284S	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	284					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGCGAACGACAGATTGA	0.617																																						uc003lgi.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(850-852)tcG>tcA		Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.							60	57	58					5																	140011717		2203	4300	6503	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011717C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.852G>A	5.37:g.140011717C>T						CD14_uc003lgj.2_Silent_p.S284S|CD14_uc021yej.1_Silent_p.S284S|CD14_uc021yek.1_Silent_p.S284S|CD14_uc021yel.1_Silent_p.S153S	p.S284S	NM_000591	NP_001167576	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1231	-			284					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.852G>A	CCDS4232.1																																																																																				0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		T	140011717	C	T	140011717	2	4	117	1	0	0	0	0	0	0	0	1	2964	523	19	1		1	CD14	5	140011717	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	38287244	140011717	40903543	35	7967											
WWC1	23286	broad.mit.edu	37	chr5	167880985	167880985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacaggaggtatgaggaGaccagtgagaatgaggcagt	14	6	15	6	0	1	4	1	3	0	2	1	7	1	5	1	4	0	2	1	4	2	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:167880985G>A	ENST00000265293.4	+	18	3040	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.E846E	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	846	Glu-rich.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTATGAGGAGACCAGTGAGA	0.537																																						uc003lzu.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2536-2538)gaG>gaA		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.							68	63	65					5																	167880985		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167880985G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2538G>A	5.37:g.167880985G>A						WWC1_uc003lzv.3_Silent_p.E846E|WWC1_uc011den.2_Silent_p.E846E|WWC1_uc003lzw.3_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	p.E846E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	17	2631	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	846			Glu-rich.|Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2538G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	5.917	0.353306	0.11182	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	4.64	2.66	0.31614	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	.	7.9263	0.29876	0.0:0.1747:0.6458:0.1795	.	.	.	.	N	808;623	.	.	D	+	1	0	WWC1	167813563	0.997000	0.39634	0.996000	0.52242	0.681000	0.39784	0.355000	0.20163	1.049000	0.40321	0.637000	0.83480	GAC		0.537	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		A	167880985	G	A	167880985	2	1	117	1	0	0	0	0	0	0	0	1	17408	933	33	3		3	WWC1	5	167880985	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	27869268	167880985	13034275	36	7968											
FLOT1	10211	broad.mit.edu	37	chr6	30697825	30697826	+	Frame_Shift_Del	DEL	TT	TT	-																															gatgctcacgcctgtgagtcTttccacactctctggcaggc																								rs113030936	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:30697825_30697826delTT	ENST00000376389.3	-	12	1447_1448	c.1227_1228delAA	c.(1225-1230)gaaagafs	p.R410fs	FLOT1_ENST00000456573.2_Frame_Shift_Del_p.R362fs	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CCTGTGAGTCTTTCCACACTCT	0.53																																						uc003nrm.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(1225-1230)gaaagafs		Homo sapiens flotillin 1 (FLOT1), mRNA.																																				SO:0001589	frameshift_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30697825_30697826delTT	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.1227_1228delAA	6.37:g.30697825_30697826delTT	ENSP00000365569:p.Arg410fs					FLOT1_uc011dmr.2_Frame_Shift_Del_p.E361fs	p.E409fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN			11	1391_1392	-			409					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Frame_Shift_Del	DEL	ENST00000376389.3	37	c.1227_1228delAA	CCDS4688.1																																																																																				0.53	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			-	30697826	TT	-	30697825	7	5	117	1	0	1	0	1	0	0	0	0	5936	1617	56	0	63	0	FLOT1	6	30697825	Frame_Shift_Del	DEL	TT	TCGA-12-0821-01A-01W-0424-08		30697825	140417242	37	7969											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						uc003nyv.3																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gcafs		Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	p.A19fs	NM_032454	NP_115830	P49842	STK19_HUMAN			0	184_185	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			A	31939830	-	A	31939829	7	5	117	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	1242004	31939829	139175238	38	7970											
LGSN	51557	broad.mit.edu	37	chr6	63990164	63990164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctcattactgctatgaAgtccatctaagccggcagca	12	9	8	12	1	2	2	1	1	1	1	3	2	3	2	3	1	4	3	3	1	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:63990164A>C	ENST00000370657.4	-	4	1325	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	431					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTGCTATGAAGTCCATCTAA	0.478																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1291-1293)cTt>cGt		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						67	68	67					6																	63990164		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990164A>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1292T>G	6.37:g.63990164A>C	ENSP00000359691:p.Leu431Arg					LGSN_uc003pei.3_3'UTR	p.L431R	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	1326	-			431					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1292T>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527252	0.44969	.	.	ENSG00000146166	ENST00000370657	D	0.86694	-2.16	5.96	5.96	0.96718	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.095578	0.64402	D	0.000001	D	0.91216	0.7232	M	0.78456	2.415	0.80722	D	1	D	0.61697	0.99	P	0.60682	0.878	D	0.92458	0.5975	10	0.87932	D	0	-28.2381	15.6296	0.76893	1.0:0.0:0.0:0.0	.	431	Q5TDP6	LGSN_HUMAN	R	431	ENSP00000359691:L431R	ENSP00000359691:L431R	L	-	2	0	LGSN	64048123	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	8.962000	0.93254	2.285000	0.76669	0.533000	0.62120	CTT		0.478	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		C	63990164	A	C	63990164	3	2	117	1	0	0	0	0	1	0	0	0	8759	72	3	5	241	5	LGSN	6	63990164	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	32050335	63990164	107124903	39	7971											
FILIP1	27145	broad.mit.edu	37	chr6	76024397	76024397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatttcaagcacacgctttCgaagattttccacttctgcc	9	13	5	14	2	2	1	1	0	1	1	4	2	3	1	3	0	2	2	3	0	2	5	rs147080592		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:76024397C>T	ENST00000237172.7	-	5	1481	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.R285Q|FILIP1_ENST00000393004.2_Missense_Mutation_p.R384Q|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	384								p.R384Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CACACGCTTTCGAAGATTTTC	0.418																																						uc010kbe.3																			1	Substitution - Missense(1)	p.R384Q(1)	skin(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1159-1161)cGa>cAa		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	180	180	180		1151	5.7	0.8	6	dbSNP_134	180	1,8599	1.2+/-3.3	0,1,4299	no	missense	FILIP1	NM_015687.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	384/1214	76024397	1,13005	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024397C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1151G>A	6.37:g.76024397C>T	ENSP00000237172:p.Arg384Gln					FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.3_Missense_Mutation_p.R285Q|FILIP1_uc003pia.3_Missense_Mutation_p.R384Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	p.R387Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	1690	-			384					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1160G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832594	0.71258	0.0	1.16E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.35789	1.3;1.29;1.29	5.65	5.65	0.86999	.	0.063350	0.64402	D	0.000004	T	0.53674	0.1811	M	0.76838	2.35	0.80722	D	1	D;D;D	0.71674	0.966;0.996;0.998	B;P;P	0.59948	0.205;0.738;0.866	T	0.54330	-0.8310	10	0.54805	T	0.06	-13.8966	20.0965	0.97849	0.0:1.0:0.0:0.0	.	384;384;384	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	384;384;285	ENSP00000376728:R384Q;ENSP00000237172:R384Q;ENSP00000359037:R285Q	ENSP00000237172:R384Q	R	-	2	0	FILIP1	76081117	1.000000	0.71417	0.848000	0.33437	0.800000	0.45204	6.039000	0.70972	2.824000	0.97209	0.655000	0.94253	CGA		0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		T	76024397	C	T	76024397	3	4	117	1	0	0	0	0	1	0	0	0	5894	884	31	2	2498	2	FILIP1	6	76024397	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	12034233	76024397	95090670	40	7972											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577200	90577200	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagggctttcattgccGgttcatcctgatgtgttgga	5	16	11	9	1	4	1	3	1	1	0	5	2	5	2	2	3	1	3	2	3	0	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:90577200G>A	ENST00000551025.1	+	0	5628									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTCATTGCCGGTTCATCCTG	0.393																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.3																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51						c.(4189-4191)ccG>ccA		Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.							83	84	84					6																	90577200		1896	4126	6022			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577200G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577200G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.P1397P|CASP8AP2_uc011dzz.2_Silent_p.P1397P	p.P1397P	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	4387	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1397						Silent	SNP	ENST00000551025.1	37	c.4191G>A																																																																																					0.393	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		A	90577200	G	A	90577200	1	1	117	0	1	0	0	0	0	0	0	0	2678	1103	39	2		2	CASP8AP2	6	90577200	RNA	SNP	G	TCGA-12-0821-01A-01W-0424-08	14552803	90577200	80537867	41	7973											
SYNE1	23345	broad.mit.edu	37	chr6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgctgagttccagaCgctggagctgttccaactcc	7	11	11	12	1	1	2	1	1	0	1	4	3	4	3	3	1	3	5	3	1	1	2	rs143049227		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:152461140C>T	ENST00000367255.5	-	140	26004	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R8468H(5)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)																												uc021zhb.1																			5	Substitution - Missense(5)	p.R8468H(8)	NS(2)|central_nervous_system(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25402-25404)cGt>cAt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	97	104		25259,25403	1.6	0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	8420/8750,8468/8798	152461140	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461140C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25403G>A	6.37:g.152461140C>T	ENSP00000356224:p.Arg8468His	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	p.R8468H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25626	-		Ovarian(120;0.0955)	8468		R -> H (in a colorectal cancer sample; somatic mutation).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470783	0.12461	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.92	1.61	0.23674	.	0.227351	0.31156	N	0.008147	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.015;0.012;0.015;0.008	B;B;B;B;B	0.17433	0.018;0.018;0.011;0.018;0.013	T	0.32481	-0.9905	10	0.21540	T	0.41	.	9.0212	0.36202	0.0:0.6038:0.0:0.3962	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468H;ENSP00000441052:R623H;ENSP00000356226:R1114H;ENSP00000396024:R8420H;ENSP00000265368:R8468H;ENSP00000390975:R8420H;ENSP00000341887:R8080H;ENSP00000349276:R2992H;ENSP00000356220:R1413H;ENSP00000346701:R646H	ENSP00000265368:R8468H	R	-	2	0	SYNE1	152502833	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	-0.096000	0.11059	0.000000	0.14550	-0.254000	0.11334	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152461140	C	T	152461140	3	4	117	1	0	0	0	0	1	0	0	0	15442	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	61883940	152461140	18653927	42	7974											
FNDC1	84624	broad.mit.edu	37	chr6	159653439	159653439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagggcacctctcatcGtccttccctgcctgccagct	5	9	7	20	1	1	0	1	0	1	0	5	0	3	0	6	1	3	2	6	1	0	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:159653439G>A	ENST00000297267.9	+	11	2095	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R569H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	632					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTCTCATCGTCCTTCCCTG	0.682																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1894-1896)cGt>cAt		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.							36	41	39					6																	159653439		2073	4199	6272	SO:0001583	missense	84624					extracellular region		g.chr6:159653439G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1895G>A	6.37:g.159653439G>A	ENSP00000297267:p.Arg632His					FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	p.R632H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	2095	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	632					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1895G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247512	0.39697	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07800	3.16;3.98	4.37	0.912	0.19349	.	1.153350	0.06505	N	0.737031	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B;B	0.23650	0.089;0.053	B;B	0.17722	0.019;0.008	T	0.47898	-0.9081	10	0.41790	T	0.15	.	1.7801	0.03030	0.214:0.1602:0.4627:0.1631	.	569;632	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	632;569	ENSP00000297267:R632H;ENSP00000342460:R569H	ENSP00000297267:R632H	R	+	2	0	FNDC1	159573429	0.000000	0.05858	0.003000	0.11579	0.197000	0.23852	-0.371000	0.07513	0.288000	0.22398	0.655000	0.94253	CGT		0.682	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159653439	G	A	159653439	3	1	117	1	0	0	0	0	1	0	0	0	5968	1145	40	1	1937	1	FNDC1	6	159653439	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	7192299	159653439	11461628	43	7975											
GPNMB	10457	broad.mit.edu	37	chr7	23309680	23309680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgtggatgagatgtgtCtgctgactgtgagacgaacc	9	11	15	6	1	1	3	0	3	1	2	1	8	1	5	1	2	2	1	1	2	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:23309680C>T	ENST00000381990.2	+	9	1512	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	GPNMB_ENST00000539136.1_Silent_p.L340L|GPNMB_ENST00000453162.2_Silent_p.L393L|GPNMB_ENST00000258733.4_Silent_p.L439L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	451					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGAGATGTGTCTGCTGACTGT	0.557																																						uc003swc.3																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1351-1353)Ctg>Ttg		Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.							197	150	166					7																	23309680		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23309680C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1351C>T	7.37:g.23309680C>T						GPNMB_uc003swb.3_Silent_p.L439L|GPNMB_uc011jyy.2_Silent_p.L393L|GPNMB_uc011jyz.2_Silent_p.L340L	p.L451L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		8	1512	+			451					A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.1351C>T	CCDS34610.1																																																																																				0.557	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23309680	C	T	23309680	2	4	117	1	0	0	0	0	0	0	0	1	6620	912	32	3		3	GPNMB	7	23309680	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08		23309680	135828983	44	7976											
FAM188B	84182	broad.mit.edu	37	chr7	30890151	30890151	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcgggcagggggccgAgagagagccgttgttgcact	6	7	20	8	3	0	2	0	0	0	2	0	4	0	2	2	4	2	4	2	4	0	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:30890151A>G	ENST00000265299.6	+	10	1604	c.1527A>G	c.(1525-1527)cgA>cgG	p.R509R	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_5'Flank|AQP1_ENST00000434909.2_5'Flank	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	509										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGGGCCGAGAGAGAGCCG	0.622																																						uc003tbt.3																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1525-1527)cgA>cgG		Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.							97	130	119					7																	30890151		2118	4219	6337	SO:0001819	synonymous_variant	84182							g.chr7:30890151A>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1527A>G	7.37:g.30890151A>G						FAM188B_uc010kwe.3_Silent_p.R480R|FAM188B_uc011kac.1_5'Flank	p.R509R	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			9	1604	+			509					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.1527A>G	CCDS43565.1																																																																																				0.622	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		G	30890151	A	G	30890151	2	3	117	1	0	0	0	0	0	0	0	1	5515	291	11	4		4	FAM188B	7	30890151	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	7580471	30890151	128248512	45	7977											
HECW1	23072	broad.mit.edu	37	chr7	43360338	43360338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgccagctcgtactttgtgGaacgtgagtacctttaccat	9	13	9	10	2	0	1	0	1	0	0	1	2	0	2	3	1	6	3	3	1	4	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:43360338G>C	ENST00000395891.2	+	5	1062	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	HECW1_ENST00000453890.1_Missense_Mutation_p.E153Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACTTTGTGGAACGTGAGTA	0.458																																						uc003tid.1																			0		p.T152S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(457-459)Gaa>Caa		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							104	105	105					7																	43360338		1960	4150	6110	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43360338G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.457G>C	7.37:g.43360338G>C	ENSP00000379228:p.Glu153Gln					HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	p.E153Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			4	1062	+			153					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.457G>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	31	5.086802	0.94100	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.36878	1.27;1.23	5.94	5.94	0.96194	.	0.095945	0.64402	D	0.000001	T	0.56366	0.1980	M	0.68593	2.085	0.80722	D	1	D;P;P	0.63880	0.993;0.496;0.89	P;B;B	0.56343	0.796;0.114;0.419	T	0.56341	-0.7995	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	153;185;153	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	Q	153;153;152	ENSP00000379228:E153Q;ENSP00000407774:E153Q	ENSP00000265522:E152Q	E	+	1	0	HECW1	43326863	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.799000	0.85936	2.820000	0.97059	0.650000	0.86243	GAA		0.458	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		C	43360338	G	C	43360338	3	2	117	1	0	0	0	0	1	0	0	0	7042	1175	41	5	467	5	HECW1	7	43360338	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	12470187	43360338	115778325	46	7978											
MUC17	140453	broad.mit.edu	37	chr7	100687031	100687031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccacggtgaccaccaccGctgtccccacgaatactaca	10	6	6	19	3	0	1	0	1	0	0	2	2	2	1	7	1	2	1	7	1	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:100687031G>A	ENST00000306151.4	+	3	12398	c.12334G>A	c.(12334-12336)Gct>Act	p.A4112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4112					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACCACCGCTGTCCCCAC	0.507																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12334-12336)Gct>Act		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							142	147	145					7																	100687031		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100687031G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12334G>A	7.37:g.100687031G>A	ENSP00000302716:p.Ala4112Thr					MUC17_uc010lho.1_Non-coding_Transcript	p.A4112T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	12387	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4112					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12334G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103581	0.06967	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.08	-0.912	0.10504	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.46992	-0.9151	9	0.05620	T	0.96	.	3.4712	0.07567	0.7229:0.0:0.2771:0.0	.	4112	Q685J3	MUC17_HUMAN	T	4112	ENSP00000302716:A4112T	ENSP00000302716:A4112T	A	+	1	0	MUC17	100473751	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.651000	0.05372	-0.511000	0.06514	-0.561000	0.04177	GCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100687031	G	A	100687031	3	1	117	1	0	0	0	0	1	0	0	0	9974	1087	38	1	12344	1	MUC17	7	100687031	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	57326693	100687031	58451632	47	7979											
CDHR3	222256	broad.mit.edu	37	chr7	105660912	105660912	+	Frame_Shift_Del	DEL	A	A	-																															cagtggatctgaaagttggcAcaaatattcagaatttcaag																								rs374018960		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:105660912delA	ENST00000317716.9	+	13	1827	c.1747delA	c.(1747-1749)acafs	p.T583fs	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000542731.1_Frame_Shift_Del_p.T583fs|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Frame_Shift_Del_p.T495fs	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	583	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAAGTTGGCACAAATATTCA	0.428																																						uc003vdl.4																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1747-1749)acafs		Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.							119	105	110					7																	105660912		1858	4113	5971	SO:0001589	frameshift_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660912delA	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1747delA	7.37:g.105660912delA	ENSP00000325954:p.Thr583fs					CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.2_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.3_Intron	p.T583fs	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			12	1855	+			583			Cadherin 6.		Q8TCI7	Frame_Shift_Del	DEL	ENST00000317716.9	37	c.1747delA	CCDS47684.1																																																																																				0.428	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		-	105660912	A	-	105660912	7	5	117	1	0	1	0	1	0	0	0	0	3120	159	6	0	1797	0	CDHR3	7	105660912	Frame_Shift_Del	DEL	A	TCGA-12-0821-01A-01W-0424-08	4973881	105660912	53477751	48	7980											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558442	113558442	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtatacaaaactcaacttTactgccatctttttgataag	14	14	4	9	1	2	1	1	1	1	0	2	1	2	1	1	0	5	1	1	0	7	7			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:113558442T>A	ENST00000284601.3	-	1	678	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	204	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACTCAACTTTACTGCCATCT	0.318																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(610-612)Aaa>Taa		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							107	102	104					7																	113558442		2203	4299	6502	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113558442T>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.610A>T	7.37:g.113558442T>A	ENSP00000284601:p.Lys204*						p.K204*	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			0	641	-			204			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.610A>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	37	6.528898	0.97641	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.08	6.08	0.98989	.	0.248978	0.41294	D	0.000908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.108	11.6956	0.51542	0.1319:0.0:0.0:0.8681	.	.	.	.	X	204	.	ENSP00000284601:K204X	K	-	1	0	PPP1R3A	113345678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.645000	0.67909	2.333000	0.79357	0.482000	0.46254	AAA		0.318	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113558442	T	A	113558442	4	1	117	1	0	0	0	0	0	1	0	0	12371	1763	61	5	2774	5	PPP1R3A	7	113558442	Nonsense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	7897530	113558442	45580221	49	7981											
BRAF	673	broad.mit.edu	37	chr7	140453141	140453141	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccatcgagatttcactgtAgctagaccaaaatcacctat	13	11	5	12	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	5	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:140453141A>T	ENST00000288602.6	-	15	1854	c.1794T>A	c.(1792-1794)gcT>gcA	p.A598A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A598_T599insV(6)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATTTCACTGTAGCTAGACCAA	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	6	Insertion - In frame(6)	p.L597R(16)|p.A598_T599insV(13)|p.L597V(13)|p.L597S(13)|p.L597Q(13)|p.A598V(4)|p.L597L(3)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)	thyroid(6)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1792-1794)gcT>gcA		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						110	103	105					7																	140453141		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453141A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1794T>A	7.37:g.140453141A>T							p.A598A	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1855	-	Melanoma(164;0.00956)		598			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1794T>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545753	0.27652	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.65	3.51	0.40186	.	.	.	.	.	T	0.45276	0.1334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	.	2.5918	0.04844	0.2562:0.0:0.3468:0.397	.	.	.	.	Q	206	.	.	L	-	2	0	BRAF	140099610	0.969000	0.33509	1.000000	0.80357	0.996000	0.88848	0.211000	0.17474	1.395000	0.46643	-0.182000	0.12963	CTA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453141	A	T	140453141	2	4	117	1	0	0	0	0	0	0	0	1	1496	407	15	5		5	BRAF	7	140453141	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	26894699	140453141	18685522	50	7982											
CSMD1	64478	broad.mit.edu	37	chr8	2832079	2832079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtagtgcacgacggcGccataggtaaacagctctcc	11	6	12	12	3	1	0	0	0	1	0	2	2	1	1	2	3	3	4	2	3	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:2832079G>A	ENST00000520002.1	-	57	9192	c.8637C>T	c.(8635-8637)ggC>ggT	p.G2879G	CSMD1_ENST00000542608.1_Silent_p.G2820G|CSMD1_ENST00000602557.1_Silent_p.G2879G|CSMD1_ENST00000537824.1_Silent_p.G2878G|CSMD1_ENST00000602723.1_Silent_p.G2821G|CSMD1_ENST00000400186.3_Silent_p.G2821G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2879	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G2607G(1)|p.G2878G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACGACGGCGCCATAGGTAA	0.557																																						uc022aqr.1																			2	Substitution - coding silent(2)	p.G2607G(1)|p.G2878G(1)	large_intestine(2)	breast(20)|large_intestine(5)	25						c.(8632-8634)ggC>ggT		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							45	48	47					8																	2832079		2003	4163	6166	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2832079G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8637C>T	8.37:g.2832079G>A						CSMD1_uc011kwj.2_Silent_p.G2208G|CSMD1_uc010lrg.3_Silent_p.G889G	p.G2878G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	55	9024	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2879			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8634C>T		.	.	.	.	.	.	.	.	.	.	G	5.485	0.274553	0.10403	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.66	-7.93	0.01156	.	.	.	.	.	T	0.34366	0.0895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39860	-0.9593	4	.	.	.	.	1.8228	0.03114	0.2475:0.0938:0.3635:0.2952	.	.	.	.	C	2296	.	.	R	-	1	0	CSMD1	2819486	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.924000	0.03996	-1.462000	0.01907	-0.878000	0.02970	CGC		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2832079	G	A	2832079	2	1	117	1	0	0	0	0	0	0	0	1	3944	1074	38	1		1	CSMD1	8	2832079	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		2832079	143531943	51	7983											
USP17L2	377630	broad.mit.edu	37	chr8	11995987	11995987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtatgtcaggcactgcaGggaagcgttctcgtagcagg	8	10	15	8	2	2	0	1	0	1	0	3	1	2	1	0	3	3	6	0	3	3	3	rs3988861	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:11995987G>A	ENST00000333796.3	-	1	599	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	95	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L95L(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGCACTGCAGGGAAGCGTTC	0.567																																						uc003wvc.1																			1	Substitution - coding silent(1)	p.L95L(2)	skin(1)	central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(283-285)Ctg>Ttg		Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.							35	42	40					8																	11995987		1440	2909	4349	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995987G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.283C>T	8.37:g.11995987G>A						LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	p.L95L	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			0	283	-			95						Silent	SNP	ENST00000333796.3	37	c.283C>T	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		A	11995987	G	A	11995987	2	1	117	1	0	0	0	0	0	0	0	1	17045	991	35	3		3	USP17L2	8	11995987	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	9163908	11995987	134368035	52	7984											
SLC7A2	6542	broad.mit.edu	37	chr8	17422587	17422587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaatctgccattcaaGcaaatgaccatcacccaaga	19	6	5	11	0	3	3	2	1	1	2	3	3	3	3	3	0	2	1	3	0	6	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:17422587G>A	ENST00000494857.1	+	13	2127	c.1909G>A	c.(1909-1911)Gca>Aca	p.A637T	SLC7A2_ENST00000470360.1_Missense_Mutation_p.A676T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A677T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A637T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A676T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	637					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCATTCAAGCAAATGACCA	0.423																																						uc011kye.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(2029-2031)Gca>Aca		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	L-Lysine(DB00123)|L-Ornithine(DB00129)						127	103	111					8																	17422587		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17422587G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1909G>A	8.37:g.17422587G>A	ENSP00000419140:p.Ala637Thr					SLC7A2_uc011kyc.2_Missense_Mutation_p.A637T|SLC7A2_uc011kyd.2_Missense_Mutation_p.A676T	p.A677T	NM_001164771	NP_001158243	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	2077	+			637					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.2029G>A	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129140	0.37533	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88664	-2.22;-2.22;-2.41;-2.26;-2.41	5.51	3.65	0.41850	.	0.594602	0.16950	N	0.192945	T	0.81513	0.4838	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14023	0.01;0.005;0.003	T	0.65134	-0.6242	10	0.23302	T	0.38	.	12.6723	0.56874	0.0:0.1264:0.7419:0.1317	.	677;676;637	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	637;637;676;677;676	ENSP00000419140:A637T;ENSP00000430464:A637T;ENSP00000419873:A676T;ENSP00000004531:A677T;ENSP00000381164:A676T	ENSP00000004531:A677T	A	+	1	0	SLC7A2	17466861	1.000000	0.71417	0.106000	0.21319	0.662000	0.39071	3.951000	0.56684	0.756000	0.33013	0.650000	0.86243	GCA		0.423	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17422587	G	A	17422587	3	1	117	1	0	0	0	0	1	0	0	0	14697	971	34	3	2216	3	SLC7A2	8	17422587	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	5426600	17422587	128941435	53	7985											
DOK2	9046	broad.mit.edu	37	chr8	21771096	21771096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacaagaagccttgtttcActgccccgtctcccatcctc	8	11	6	16	1	2	1	1	0	1	1	5	2	3	1	5	0	3	1	5	0	3	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:21771096A>C	ENST00000276420.4	-	1	275	c.17T>G	c.(16-18)gTg>gGg	p.V6G	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	6	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCTTGTTTCACTGCCCCGTC	0.582																																						uc003wzx.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(16-18)gTg>gGg		Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.							160	145	150					8																	21771096		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21771096A>C	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.17T>G	8.37:g.21771096A>C	ENSP00000276420:p.Val6Gly					DOK2_uc003wzy.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	p.V6G	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	0	110	-			6			PH.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.17T>G	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905492	0.52333	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.53206	1.56;0.63	5.06	5.06	0.68205	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.108147	0.38492	N	0.001669	T	0.57784	0.2077	M	0.68593	2.085	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.53313	0.636;0.723	T	0.60530	-0.7245	10	0.48119	T	0.1	.	13.0431	0.58910	1.0:0.0:0.0:0.0	.	6;6	O60496;A8K7W1	DOK2_HUMAN;.	G	6	ENSP00000276420:V6G;ENSP00000429224:V6G	ENSP00000276420:V6G	V	-	2	0	DOK2	21827042	0.998000	0.40836	0.992000	0.48379	0.072000	0.16883	4.491000	0.60326	1.887000	0.54652	0.460000	0.39030	GTG		0.582	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		C	21771096	A	C	21771096	3	2	117	1	0	0	0	0	1	0	0	0	4697	159	6	5	1241	5	DOK2	8	21771096	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	4348509	21771096	124592926	54	7986											
ELP3	55140	broad.mit.edu	37	chr8	27954764	27954764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctgctgagctgatgatGctgactataggagatgttat	10	12	12	7	0	0	5	0	4	0	1	0	6	0	5	1	1	4	4	1	1	3	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:27954764G>A	ENST00000256398.8	+	2	425	c.48G>A	c.(46-48)atG>atA	p.M16I	ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000521015.1_Missense_Mutation_p.M2I|ELP3_ENST00000542181.1_De_novo_Start_OutOfFrame|ELP3_ENST00000537665.1_Intron|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000380353.4_De_novo_Start_OutOfFrame	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	16					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGCTGATGATGCTGACTATAG	0.368																																						uc003xgo.4																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(46-48)atG>atA		Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.							109	106	107					8																	27954764		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27954764G>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.48G>A	8.37:g.27954764G>A	ENSP00000256398:p.Met16Ile					ELP3_uc003xgn.4_Missense_Mutation_p.M1I|ELP3_uc011las.2_Intron|ELP3_uc011lat.2_5'UTR|ELP3_uc011laq.2_Intron|ELP3_uc011lar.2_5'UTR	p.M16I	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	1	196	+		Ovarian(32;0.0218)	16					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.48G>A	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209440	0.39003	.	.	ENSG00000134014	ENST00000520270;ENST00000521015;ENST00000521570;ENST00000256398;ENST00000524024;ENST00000520288;ENST00000521099	.	.	.	6.02	3.99	0.46301	.	0.036995	0.85682	D	0.000000	T	0.42787	0.1218	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	9	0.27082	T	0.32	-28.6649	8.6776	0.34189	0.0891:0.158:0.7529:0.0	.	16	Q9H9T3	ELP3_HUMAN	I	2;2;2;16;16;2;2	.	ENSP00000256398:M16I	M	+	3	0	ELP3	28010683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.434000	0.59935	2.865000	0.98341	0.655000	0.94253	ATG		0.368	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		A	27954764	G	A	27954764	3	1	117	1	0	0	0	0	1	0	0	0	5081	1319	46	3	54	3	ELP3	8	27954764	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	6183668	27954764	118409258	55	7987											
PCMTD1	115294	broad.mit.edu	37	chr8	52733124	52733124	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattacccacaaatacgtaAgtgttaattctctgtttaac	13	15	5	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	3	1	0	6	7			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:52733124A>C	ENST00000360540.5	-	7	1267	c.861T>G	c.(859-861)acT>acG	p.T287T	PCMTD1_ENST00000544451.1_Silent_p.T211T|PCMTD1_ENST00000522514.1_Silent_p.T287T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393																																						uc003xqx.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(859-861)acT>acG		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							192	190	191					8																	52733124		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733124A>C		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.861T>G	8.37:g.52733124A>C						PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	p.T287T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1202	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	287					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.861T>G	CCDS6148.1																																																																																				0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733124	A	C	52733124	2	2	117	1	0	0	0	0	0	0	0	1	11586	59	3	5		5	PCMTD1	8	52733124	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	24778360	52733124	93630898	56	7988											
ANGPT1	284	broad.mit.edu	37	chr8	108276567	108276567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgctgtcccagtgtgaccTtttaaatacaacctgaagtc	10	12	7	12	0	0	2	0	2	0	0	2	2	1	2	4	0	3	1	4	0	5	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:108276567T>C	ENST00000520734.1	-	7	903	c.618A>G	c.(616-618)aaA>aaG	p.K206K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K205K			Q15389	ANGP1_HUMAN	angiopoietin 1	406					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAGTGTGACCTTTTAAATACA	0.393																																						uc003ymn.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(1216-1218)aaA>aaG		Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.							103	94	97					8																	108276567		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108276567T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.618A>G	8.37:g.108276567T>C						ANGPT1_uc011lhv.2_Silent_p.K206K|ANGPT1_uc003ymo.3_Silent_p.K405K	p.K406K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		7	1686	-	Breast(1;5.06e-08)		406			Fibrinogen C-terminal.		Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.1218A>G																																																																																					0.393	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		C	108276567	T	C	108276567	2	2	117	1	0	0	0	0	0	0	0	1	610	1606	56	4		4	ANGPT1	8	108276567	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	55543443	108276567	38087455	57	7989											
MAMDC2	256691	broad.mit.edu	37	chr9	72755159	72755159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggttggacccgagtgaaaGtaaaaccaaacatgtatcgg	15	7	11	8	2	0	1	0	1	0	0	1	3	0	2	2	3	2	3	2	3	5	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr9:72755159G>A	ENST00000377182.4	+	8	1710	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	365	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCGAGTGAAAGTAAAACCAAA	0.458																																						uc004ahm.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1093-1095)Gta>Ata		Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.							139	130	133					9																	72755159		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72755159G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1093G>A	9.37:g.72755159G>A	ENSP00000366387:p.Val365Ile					MAMDC2_uc004ahn.2_Non-coding_Transcript	p.V365I	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			7	1710	+			365			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1093G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980620	0.53827	.	.	ENSG00000165072	ENST00000377182	T	0.02121	4.44	6.02	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.106321	0.64402	D	0.000005	T	0.09818	0.0241	L	0.57536	1.79	0.54753	D	0.999987	D	0.67145	0.996	D	0.69479	0.964	T	0.02444	-1.1158	10	0.41790	T	0.15	-10.0478	16.7932	0.85595	0.0:0.1285:0.8715:0.0	.	365	Q7Z304	MAMC2_HUMAN	I	365	ENSP00000366387:V365I	ENSP00000366387:V365I	V	+	1	0	MAMDC2	71944979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.247000	0.72411	2.865000	0.98341	0.655000	0.94253	GTA		0.458	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		A	72755159	G	A	72755159	3	1	117	1	0	0	0	0	1	0	0	0	9203	1029	36	3	1123	3	MAMDC2	9	72755159	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		72755159	68458272	58	7990											
ATAD1	84896	broad.mit.edu	37	chr10	89550116	89550116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacaaatgtttctttttGataggtaagatgactgtgtc	12	16	8	5	0	2	3	1	2	1	1	3	3	2	3	0	1	1	2	0	1	4	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:89550116G>A	ENST00000308448.7	-	4	711	c.333C>T	c.(331-333)atC>atT	p.I111I	ATAD1_ENST00000400215.3_Silent_p.I53I|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Silent_p.I111I|ATAD1_ENST00000541004.1_Silent_p.I111I	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	111					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTTTCTTTTTGATAGGTAAGA	0.358																																						uc001kez.1																			0				kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10						c.(331-333)atC>atT		Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.							113	108	110					10																	89550116		2203	4300	6503	SO:0001819	synonymous_variant	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89550116G>A	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.333C>T	10.37:g.89550116G>A						ATAD1_uc010qmr.1_Silent_p.I53I|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.I111I	p.I111I	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	3	712	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	111					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Silent	SNP	ENST00000308448.7	37	c.333C>T	CCDS7386.1																																																																																				0.358	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		A	89550116	G	A	89550116	2	1	117	1	0	0	0	0	0	0	0	1	1070	1280	45	3		3	ATAD1	10	89550116	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		89550116	45984631	59	7991											
MGEA5	10724	broad.mit.edu	37	chr10	103557792	103557792	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcttgatatcccaaacAtaggagtacatgtcataaag	16	11	6	8	0	2	1	1	1	1	0	3	2	3	2	1	1	3	1	1	1	7	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:103557792A>C	ENST00000361464.3	-	10	2324	c.1929T>G	c.(1927-1929)taT>taG	p.Y643*	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y590*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y643*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y590*	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	643					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TATCCCAAACATAGGAGTACA	0.418																																						uc001ktv.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1927-1929)taT>taG		Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.							136	122	127					10																	103557792		2203	4300	6503	SO:0001587	stop_gained	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103557792A>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1929T>G	10.37:g.103557792A>C	ENSP00000354850:p.Tyr643*					MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	p.Y643*	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	2372	-		Colorectal(252;0.207)	643			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	37	c.1929T>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	42	9.255784	0.99115	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.803	8.1542	0.31158	0.8468:0.0:0.1532:0.0	.	.	.	.	X	590;643;590;643	.	ENSP00000350445:Y590X	Y	-	3	2	MGEA5	103547782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.600000	0.46240	2.197000	0.70478	0.533000	0.62120	TAT		0.418	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		C	103557792	A	C	103557792	4	2	117	1	0	0	0	0	0	1	0	0	9555	224	8	5	849	5	MGEA5	10	103557792	Nonsense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	14007676	103557792	31976955	60	7992											
OR51B6	390058	broad.mit.edu	37	chr11	5373426	5373426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgggcattggttctggagGagaaagggccaaggccctca	10	7	15	9	0	2	1	1	0	1	1	2	3	2	2	2	6	0	2	2	6	2	2	rs267602947		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:5373426G>A	ENST00000380219.1	+	1	689	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCTGGAGGAGAAAGGGCC	0.418																																						uc010qzb.2																			0		p.G230G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(688-690)gGa>gAa		Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.		G	GLU/GLY	0,4402	2.1+/-5.4	0,0,2201	216	193	200		689	2.8	0.6	11		200	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B6	NM_001004750.1	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	230/313	5373426	1,12995	2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373426G>A		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.689G>A	11.37:g.5373426G>A	ENSP00000369568:p.Gly230Glu					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.G230E	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	689	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	230						Missense_Mutation	SNP	ENST00000380219.1	37	c.689G>A	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287536	0.00248	0.0	1.16E-4	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00025	8.95	5.15	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.510762	0.17809	N	0.161291	T	0.00039	0.0001	N	0.00308	-1.67	0.23496	N	0.99755	B	0.02656	0.0	B	0.04013	0.001	T	0.34204	-0.9838	10	0.02654	T	1	.	4.5883	0.12294	0.6963:0.0:0.1599:0.1438	.	230	Q9H340	O51B6_HUMAN	E	229;230	ENSP00000369568:G230E	ENSP00000369568:G230E	G	+	2	0	OR51B6	5330002	0.000000	0.05858	0.590000	0.28732	0.231000	0.25187	0.250000	0.18235	0.389000	0.25086	-0.416000	0.06073	GGA		0.418	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373426	G	A	5373426	3	1	117	1	0	0	0	0	1	0	0	0	11092	1174	41	3	691	3	OR51B6	11	5373426	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		5373426	129633090	61	7993											
MICAL2	9645	broad.mit.edu	37	chr11	12225971	12225971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccaagaagttctatGggaagttctgtgctggctcc	8	11	14	8	0	2	1	0	0	2	1	3	3	3	3	2	3	2	4	2	3	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:12225971G>T	ENST00000256194.4	+	4	727	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MICAL2_ENST00000379612.3_Missense_Mutation_p.G147W|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000537344.1_Missense_Mutation_p.G147W|MICAL2_ENST00000342902.5_Missense_Mutation_p.G147W|MICAL2_ENST00000527546.1_Missense_Mutation_p.G147W	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	147	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGTTCTATGGGAAGTTCTG	0.552																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(439-441)Ggg>Tgg		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							107	95	99					11																	12225971		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12225971G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.439G>T	11.37:g.12225971G>T	ENSP00000256194:p.Gly147Trp					MICAL2_uc010rch.1_Missense_Mutation_p.G147W|MICAL2_uc001mjy.3_Missense_Mutation_p.G147W|MICAL2_uc001mka.3_Missense_Mutation_p.G147W|MICAL2_uc010rci.2_Missense_Mutation_p.G147W|MICAL2_uc001mkb.3_Missense_Mutation_p.G147W|MICAL2_uc001mkc.3_Missense_Mutation_p.G147W	p.G147W	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	3	727	+			147					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.439G>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969133	0.92855	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0;1.0	T	0.45760	-0.9239	9	.	.	.	.	19.4289	0.94756	0.0:0.0:1.0:0.0	.	147;147;147;147;147;147	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	W	147	ENSP00000441689:G147W;ENSP00000256194:G147W;ENSP00000433965:G147W;ENSP00000344894:G147W;ENSP00000368932:G147W	.	G	+	1	0	MICAL2	12182547	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	9.835000	0.99442	2.700000	0.92200	0.563000	0.77884	GGG		0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		T	12225971	G	T	12225971	3	4	117	1	0	0	0	0	1	0	0	0	9570	1348	47	5	445	5	MICAL2	11	12225971	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	6852545	12225971	122780545	62	7994											
KCNC1	3746	broad.mit.edu	37	chr11	17757795	17757795	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactgcccagccgacgtGtgcgggccgctctacgagga	6	6	14	15	5	1	0	0	0	1	0	1	3	1	1	3	2	5	2	3	2	1	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:17757795G>T	ENST00000379472.3	+	1	276	c.246G>T	c.(244-246)gtG>gtT	p.V82V	KCNC1_ENST00000265969.6_Silent_p.V82V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	82					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CAGCCGACGTGTGCGGGCCGC	0.677																																						uc009yhc.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(244-246)gtG>gtT		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.							44	43	43					11																	17757795		2200	4292	6492	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757795G>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.246G>T	11.37:g.17757795G>T						KCNC1_uc001mnk.4_Silent_p.V82V	p.V82V	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN			0	301	+			82					K4DI87	Silent	SNP	ENST00000379472.3	37	c.246G>T	CCDS7827.1																																																																																				0.677	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		T	17757795	G	T	17757795	2	4	117	1	0	0	0	0	0	0	0	1	8014	1364	48	5		5	KCNC1	11	17757795	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	5531824	17757795	117248721	63	7995											
UEVLD	55293	broad.mit.edu	37	chr11	18554017	18554017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttaaaaacacttcactAtttatatcataatatccctg	17	14	1	9	0	2	0	2	0	0	0	3	0	3	0	1	0	2	0	1	0	9	8			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:18554017A>G	ENST00000396197.3	-	12	1294	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	UEVLD_ENST00000379387.4_Silent_p.N400N|UEVLD_ENST00000535484.1_3'UTR|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_3'UTR|UEVLD_ENST00000541984.1_3'UTR|UEVLD_ENST00000543987.1_3'UTR	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACACTTCACTATTTATATCAT	0.313																																						uc001mot.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1264-1266)aaT>aaC		Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.							79	73	75					11																	18554017		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18554017A>G	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1266T>C	11.37:g.18554017A>G						UEVLD_uc001mou.3_3'UTR|UEVLD_uc010rde.2_Silent_p.N292N|UEVLD_uc010rdf.2_Silent_p.N400N|UEVLD_uc010rdg.2_Silent_p.N292N|UEVLD_uc001mov.3_3'UTR	p.N422N	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			11	1346	-			422						Silent	SNP	ENST00000396197.3	37	c.1266T>C	CCDS41624.1																																																																																				0.313	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		G	18554017	A	G	18554017	2	3	117	1	0	0	0	0	0	0	0	1	16930	446	16	4		4	UEVLD	11	18554017	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	796222	18554017	116452499	64	7996											
QSER1	79832	broad.mit.edu	37	chr11	32955067	32955067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaagttattggggttgctCtgcaagcatcaaaaaaagaa	16	10	9	6	0	3	1	2	0	1	1	3	1	3	1	0	2	3	5	0	2	7	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:32955067C>G	ENST00000399302.2	+	4	2211	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	QSER1_ENST00000527788.1_Missense_Mutation_p.L387V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	626										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGGGGTTGCTCTGCAAGCATC	0.378																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(1876-1878)Ctg>Gtg		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							87	84	85					11																	32955067		1858	4093	5951	SO:0001583	missense	79832							g.chr11:32955067C>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1876C>G	11.37:g.32955067C>G	ENSP00000382241:p.Leu626Val					QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.3_Missense_Mutation_p.L131V	p.L626V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			3	2143	+	Breast(20;0.158)		626					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.1876C>G	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996871	0.19043	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.25912	2.11;1.77	5.01	3.1	0.35709	.	0.118979	0.35838	N	0.002955	T	0.30634	0.0771	N	0.24115	0.695	0.35960	D	0.834535	P;D;D	0.71674	0.875;0.998;0.988	B;P;P	0.60789	0.341;0.879;0.76	T	0.41502	-0.9505	10	0.66056	D	0.02	.	11.6698	0.51395	0.0:0.8479:0.0:0.1521	.	387;387;626	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	V	626;387;387	ENSP00000382241:L626V;ENSP00000432766:L387V	ENSP00000078652:L387V	L	+	1	2	QSER1	32911643	0.264000	0.24093	0.748000	0.31131	0.764000	0.43329	1.303000	0.33470	1.248000	0.43934	0.591000	0.81541	CTG		0.378	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		G	32955067	C	G	32955067	3	3	117	1	0	0	0	0	1	0	0	0	12882	912	32	5	1882	5	QSER1	11	32955067	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	14401050	32955067	102051449	65	7997											
OR5A1	219982	broad.mit.edu	37	chr11	59211078	59211078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccagggcctctgtacacGcatggtggttggggcatatg	7	9	15	10	1	1	0	0	0	1	0	1	1	1	0	2	5	1	4	2	5	2	3	rs143071629	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:59211078G>T	ENST00000302030.2	+	1	462	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCTGTACACGCATGGTGGTT	0.552																																						uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(436-438)cGc>cTc		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							262	243	250					11																	59211078		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211078G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.437G>T	11.37:g.59211078G>T	ENSP00000303096:p.Arg146Leu						p.R146L	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	437	+			146					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.437G>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841814	0.16963	.	.	ENSG00000172320	ENST00000302030	T	0.00032	8.88	5.98	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.465789	0.17798	N	0.161662	T	0.00073	0.0002	N	0.11845	0.185	0.09310	N	1	P	0.36162	0.54	B	0.38842	0.283	T	0.01781	-1.1275	10	0.07175	T	0.84	-0.7698	6.3991	0.21628	0.2648:0.0:0.6018:0.1334	.	146	Q8NGJ0	OR5A1_HUMAN	L	146	ENSP00000303096:R146L	ENSP00000303096:R146L	R	+	2	0	OR5A1	58967654	0.000000	0.05858	0.011000	0.14972	0.775000	0.43874	-0.800000	0.04555	0.412000	0.25729	0.650000	0.86243	CGC		0.552	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211078	G	T	59211078	3	4	117	1	0	0	0	0	1	0	0	0	11139	1087	38	5	439	5	OR5A1	11	59211078	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	26256011	59211078	75795438	66	7998											
ODZ4	26011	broad.mit.edu	37	chr11	78380644	78380644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttgtattgcacgtcaCccagccgagtgatgcggtcg	7	10	11	13	4	2	1	1	1	1	0	3	2	2	1	3	1	3	2	3	1	1	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:78380644C>A	ENST00000278550.7	-	32	7208	c.6746G>T	c.(6745-6747)gGt>gTt	p.G2249V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2249					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTGCACGTCACCCAGCCGAGT	0.562																																						uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6745-6747)gGt>gTt		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							170	174	173					11																	78380644		2172	4267	6439	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380644C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6746G>T	11.37:g.78380644C>A	ENSP00000278550:p.Gly2249Val					ODZ4_uc001ozk.4_Missense_Mutation_p.G474V	p.G2249V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	7209	-			2249					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.6746G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071120	0.76301	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.94457	-3.43;0.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97476	1.0044	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2249	Q6N022	TEN4_HUMAN	V	2249;713	ENSP00000278550:G2249V;ENSP00000431711:G713V	.	G	-	2	0	ODZ4	78058292	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	GGT		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78380644	C	A	78380644	3	1	117	1	0	0	0	0	1	0	0	0	10837	507	18	5	1575	5	ODZ4	11	78380644	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	19169566	78380644	56625872	67	7999											
APOA4	337	broad.mit.edu	37	chr11	116691955	116691955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaggttgccacgcacGtcctcggccaagggcgccag	6	5	12	18	4	1	0	1	0	0	0	3	0	2	0	6	3	1	2	6	3	1	1	rs146365840	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:116691955G>A	ENST00000357780.3	-	3	933	c.819C>T	c.(817-819)gaC>gaT	p.D273D		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	273	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCCACGCACGTCCTCGGCCA	0.672													G|||	9	0.00179712	8e-04	0	5008	,	,		15299	0		0	False		,,,				2504	0.0082					uc001pps.1																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(817-819)gaC>gaT		Homo sapiens apolipoprotein A-IV (APOA4), mRNA.		G		2,4400	4.2+/-10.8	0,2,2199	37	40	39		819	-2.7	0	11	dbSNP_134	39	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	APOA4	NM_000482.3		0,3,6489	AA,AG,GG		0.0117,0.0454,0.0231		273/397	116691955	3,12981	2201	4291	6492	SO:0001819	synonymous_variant	337							g.chr11:116691955G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.819C>T	11.37:g.116691955G>A							p.D273D	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	2	923	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.819C>T	CCDS31681.1																																																																																				0.672	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		A	116691955	G	A	116691955	2	1	117	1	0	0	0	0	0	0	0	1	783	1136	40	1		1	APOA4	11	116691955	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	38311311	116691955	18314561	68	8000											
TWF1	5756	broad.mit.edu	37	chr12	44200088	44200100	+	5'UTR	DEL	GCCAGCGGCCCCG	GCCAGCGGCCCCG	-																															cggctccggcgctgagtgcaGccagcggccccggccggcgg																								rs528164053	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:44200088_44200100delGCCAGCGGCCCCG	ENST00000395510.2	-	0	78_90				TWF1_ENST00000547564.1_5'Flank|TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000325127.4_Frame_Shift_Del_p.AGAAG17fs|TWF1_ENST00000548315.1_5'Flank	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1						barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GCTGAGTGCAGCCAgcggccccggccggcggcc	0.775														13	0.00259585	0.003	0	5008	,	,		9774	0		0.001	False		,,,				2504	0.0082					uc001roa.3																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(49-63)gccggggccgctggcfs		Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.			,	5,2249		1,3,1123					,	-5	0			2	21,5051		5,11,2520	no	utr-5,utr-5	TWF1	NM_002822.4,NM_001242397.1	,	6,14,3643	A1A1,A1R,RR		0.414,0.2218,0.3549	,	,		26,7300				SO:0001623	5_prime_UTR_variant	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44200088_44200100delGCCAGCGGCCCCG	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.-52CGGGGCCGCTGGC>-	12.37:g.44200088_44200100delGCCAGCGGCCCCG						TWF1_uc001rnz.3_5'Flank|TWF1_uc001rob.3_5'UTR|TWF1_uc001roc.3_5'UTR	p.A17fs	NM_002822	NP_002813	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	0	79_91	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	0			ADF-H 1.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Frame_Shift_Del	DEL	ENST00000395510.2	37	c.51_63delCGGGGCCGCTGGC	CCDS31780.2																																																																																				0.775	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		-	44200100	GCCAGCGGCCCCG	-	44200088	6	5	117	0	1	1	0	1	0	0	0	0	16778	958	34	0		0	TWF1	12	44200088	5'UTR	DEL	GCCAGCGGCCCCG	TCGA-12-0821-01A-01W-0424-08		44200088	89651807	69	8001											
ZBTB39	9880	broad.mit.edu	37	chr12	57398062	57398062	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgaagggagcaggggTgtcatggtcttctgtctttg	6	12	17	6	1	4	1	1	1	3	0	4	3	4	3	0	5	1	1	0	5	1	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:57398062T>G	ENST00000300101.2	-	2	725	c.640A>C	c.(640-642)Acc>Ccc	p.T214P		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGAGCAGGGGTGTCATGGTCT	0.572																																						uc001sml.2																			0		p.D213G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(640-642)Acc>Ccc		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							126	109	115					12																	57398062		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398062T>G	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.640A>C	12.37:g.57398062T>G	ENSP00000300101:p.Thr214Pro					ZBTB39_uc021qzg.1_Missense_Mutation_p.T214P	p.T214P	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	793	-			214					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.640A>C	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	T	1.266	-0.614557	0.03663	.	.	ENSG00000166860	ENST00000300101	T	0.08807	3.05	5.92	-1.77	0.07982	.	1.575640	0.03655	N	0.241607	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.45673	-0.9245	10	0.66056	D	0.02	-2.0715	11.6266	0.51149	0.0:0.3506:0.0:0.6494	.	214	O15060	ZBT39_HUMAN	P	214	ENSP00000300101:T214P	ENSP00000300101:T214P	T	-	1	0	ZBTB39	55684329	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.226000	0.09139	-0.706000	0.05028	-0.290000	0.09829	ACC		0.572	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		G	57398062	T	G	57398062	3	3	117	1	0	0	0	0	1	0	0	0	17537	1696	59	5	1502	5	ZBTB39	12	57398062	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	13197974	57398062	76453833	70	8002											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450302	85450302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagaaaataatcaaagaTaatcagcagaaaaagataca	24	5	7	5	0	2	4	2	0	0	4	2	5	2	4	0	0	3	2	0	0	8	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:85450302T>C	ENST00000393217.2	+	8	1792	c.1731T>C	c.(1729-1731)gaT>gaC	p.D577D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	577										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATCAAAGATAATCAGCAGA	0.289																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1729-1731)gaT>gaC		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							33	36	35					12																	85450302		2193	4269	6462	SO:0001819	synonymous_variant	84125							g.chr12:85450302T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1731T>C	12.37:g.85450302T>C						LRRIQ1_uc021rbo.1_Silent_p.D455D|LRRIQ1_uc001taa.1_Silent_p.D552D	p.D577D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	7	1842	+			577					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1731T>C	CCDS41816.1																																																																																				0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85450302	T	C	85450302	2	2	117	1	0	0	0	0	0	0	0	1	9029	1403	49	4		4	LRRIQ1	12	85450302	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	28052240	85450302	48401593	71	8003											
WSB2	55884	broad.mit.edu	37	chr12	118490112	118490113	+	Intron	INS	-	-	A																															gccccagtacgagaatacttINSacaactgctcctccaacggc																								rs191754911	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:118490112_118490113insA	ENST00000315436.3	-	2	324				WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_Intron|WSB2_ENST00000542304.1_Intron|WSB2_ENST00000441406.2_Intron|WSB2_ENST00000535496.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAATACTTACAACTGCTCC	0.55																																						uc001twr.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.e2+1		Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.																																				SO:0001627	intron_variant	55884				intracellular signal transduction			g.chr12:118490112_118490113insA	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.182+1->T	12.37:g.118490113_118490113dupA						WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice	p.F61_splice	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			2	280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		61					B4DIE6|B4DPV6|Q9NRX9	Splice_Site	INS	ENST00000315436.3	37	c.182_splice	CCDS9186.1																																																																																				0.55	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		A	118490113	-	A	118490112	6	5	117	0	1	1	1	0	0	0	0	0	17402	1769	61	0		0	WSB2	12	118490112	Intron	INS	-	TCGA-12-0821-01A-01W-0424-08	33039810	118490112	15361783	72	8004											
ATP8A2	51761	broad.mit.edu	37	chr13	26411335	26411335	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccttcactctgggaaTctttgagaggtcttgcactc	6	12	10	13	1	4	1	1	1	3	1	5	3	4	2	2	2	1	1	2	2	1	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:26411335T>A	ENST00000381655.2	+	29	2931	c.2789T>A	c.(2788-2790)aTc>aAc	p.I930N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.I865N|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	890					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTGGGAATCTTTGAGAGG	0.502																																						uc001uqk.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2788-2790)aTc>aAc		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.							124	120	121					13																	26411335		1903	4123	6026	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411335T>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2789T>A	13.37:g.26411335T>A	ENSP00000371070:p.Ile930Asn					ATP8A2_uc010tdi.2_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	p.I930N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	28	2931	+		Breast(139;0.0201)|Lung SC(185;0.0225)	890					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2789T>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643385	0.87859	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.46063	0.88;0.88	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	H	0.95260	3.645	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;P	0.72075	0.947;0.976;0.905	T	0.83314	-0.0021	10	0.87932	D	0	.	16.2009	0.82078	0.0:0.0:0.0:1.0	.	865;710;890	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	N	930;865;710	ENSP00000371070:I930N;ENSP00000255283:I865N	ENSP00000255283:I865N	I	+	2	0	ATP8A2	25309335	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.235000	0.73313	0.533000	0.62120	ATC		0.502	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		A	26411335	T	A	26411335	3	1	117	1	0	0	0	0	1	0	0	0	1193	1435	50	5	2903	5	ATP8A2	13	26411335	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		26411335	88758543	73	8005											
WASF3	10810	broad.mit.edu	37	chr13	27256966	27256967	+	Frame_Shift_Ins	INS	-	-	C																															cacccccgggcccaccacctINScccccgccaggccctcctgg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:27256966_27256967insC	ENST00000335327.5	+	9	1384_1385	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P400fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	403	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCCACCACCTCCCCCGCCAGG	0.708																																						uc001uqv.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1204-1209)cctcccfs		Homo sapiens WAS protein family, member 3 (WASF3), mRNA.																																				SO:0001589	frameshift_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256966_27256967insC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1211dupC	13.37:g.27256971_27256971dupC	ENSP00000335055:p.Pro403fs					WASF3_uc001uqw.3_Frame_Shift_Ins_p.P399fs	p.P402fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1431_1432	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	402			Poly-Pro.		O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	c.1206_1207insC	CCDS9318.1																																																																																				0.708	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			C	27256967	-	C	27256966	7	5	117	1	0	1	1	0	0	0	0	0	17251	1538	54	0	1232	0	WASF3	13	27256966	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	845631	27256966	87912912	74	8006											
FLT1	2321	broad.mit.edu	37	chr13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaacagagtgctgctgtCgccctggtagtcctaggggg	6	8	16	11	1	0	1	0	0	0	1	2	1	1	1	3	4	3	3	3	4	3	2	rs372046832		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:28880897C>T	ENST00000282397.4	-	29	3984	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_ENST00000540678.1_Missense_Mutation_p.D463N|FLT1_ENST00000543394.1_Missense_Mutation_p.D268N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1245					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3733-3735)Gac>Aac		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)	C	ASN/ASP	0,4406		0,0,2203	85	77	80		3733	3.5	0	13		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLT1	NM_002019.4	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1245/1339	28880897	1,13005	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28880897C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3733G>A	13.37:g.28880897C>T	ENSP00000282397:p.Asp1245Asn					FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	p.D1245N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	28	4018	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1245					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3733G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289171	0.59976	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;D;T	0.82081	-1.38;-1.57;-1.48	5.23	3.47	0.39725	.	0.232475	0.42294	N	0.000731	D	0.82426	0.5034	L	0.52905	1.665	0.21290	N	0.999731	D	0.69078	0.997	P	0.51193	0.662	T	0.75096	-0.3438	10	0.87932	D	0	.	9.3249	0.37986	0.0:0.8319:0.0:0.1681	.	1245	P17948	VGFR1_HUMAN	N	1245;268;463	ENSP00000282397:D1245N;ENSP00000437841:D268N;ENSP00000443311:D463N	ENSP00000282397:D1245N	D	-	1	0	FLT1	27778897	0.640000	0.27243	0.025000	0.17156	0.062000	0.15995	3.206000	0.51098	1.326000	0.45319	0.650000	0.86243	GAC		0.552	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	28880897	C	T	28880897	3	4	117	1	0	0	0	0	1	0	0	0	5941	884	31	2	291	2	FLT1	13	28880897	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	1623931	28880897	86288981	75	8007											
FLT1	2321	broad.mit.edu	37	chr13	29004213	29004213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccggcgagggaaatgcCttcactttcatagagagccg	10	9	11	11	3	2	1	2	0	0	1	3	4	3	2	3	2	2	0	3	2	2	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:29004213C>T	ENST00000282397.4	-	8	1331	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	FLT1_ENST00000541932.1_Silent_p.K360K|FLT1_ENST00000539099.1_Silent_p.K360K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	360	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGAAATGCCTTCACTTTCA	0.443																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1078-1080)aaG>aaA		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						122	116	118					13																	29004213		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29004213C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1080G>A	13.37:g.29004213C>T						FLT1_uc010aar.1_Silent_p.K360K|FLT1_uc001usc.3_Silent_p.K360K|FLT1_uc010tdp.1_Silent_p.K360K	p.K360K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	7	1365	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	360			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.1080G>A	CCDS9330.1																																																																																				0.443	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	29004213	C	T	29004213	2	4	117	1	0	0	0	0	0	0	0	1	5941	680	24	3		3	FLT1	13	29004213	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	123316	29004213	86165665	76	8008											
DOCK9	23348	broad.mit.edu	37	chr13	99549805	99549805	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttattgctgtcttgcctgTagatggcagaaaatctggca	9	13	11	8	0	2	2	0	0	2	2	2	2	2	2	1	2	2	5	1	2	4	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:99549805T>A	ENST00000376460.1	-	15	1726	c.1646A>T	c.(1645-1647)tAc>tTc	p.Y549F	DOCK9_ENST00000339416.2_Missense_Mutation_p.Y550F|DOCK9_ENST00000442173.1_Missense_Mutation_p.Y549F|DOCK9_ENST00000448493.2_Missense_Mutation_p.Y561F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	550					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTTGCCTGTAGATGGCAGA	0.383																																						uc001vnt.2																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1648-1650)tAc>tTc		Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.							229	223	225					13																	99549805		1878	4111	5989	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99549805T>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1646A>T	13.37:g.99549805T>A	ENSP00000365643:p.Tyr549Phe					DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc021rlw.1_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	p.Y550F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			14	1704	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		550					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1649A>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791390	0.50102	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.04015	3.73;3.73;3.73;3.73	5.25	5.25	0.73442	.	0.061993	0.64402	D	0.000002	T	0.04861	0.0131	L	0.28504	0.86	0.52501	D	0.999953	B;B;B;B;B	0.22211	0.014;0.064;0.066;0.004;0.012	B;B;B;B;B	0.29440	0.032;0.102;0.072;0.008;0.044	T	0.48019	-0.9071	9	.	.	.	.	11.0442	0.47849	0.1473:0.0:0.0:0.8527	.	550;549;549;549;550	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	F	549;550;550;550;549;550;561;549	ENSP00000365643:Y549F;ENSP00000341086:Y550F;ENSP00000401958:Y561F;ENSP00000406883:Y549F	.	Y	-	2	0	DOCK9	98347806	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.951000	0.56684	1.997000	0.58415	0.533000	0.62120	TAC		0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		A	99549805	T	A	99549805	3	1	117	1	0	0	0	0	1	0	0	0	4694	1638	57	5	4789	5	DOCK9	13	99549805	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	70545592	99549805	15620073	77	8009											
COL4A2	1284	broad.mit.edu	37	chr13	111132630	111132630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccctgtgggcatgaaagGtctctctggtgacagaggag	8	9	16	8	0	2	3	0	2	2	1	3	4	2	4	1	5	0	1	1	5	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:111132630G>T	ENST00000360467.5	+	31	2957	c.2651G>T	c.(2650-2652)gGt>gTt	p.G884V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	884	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCATGAAAGGTCTCTCTGGT	0.582																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2650-2652)gGt>gTt		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							92	95	94					13																	111132630		1912	4119	6031	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111132630G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2651G>T	13.37:g.111132630G>T	ENSP00000353654:p.Gly884Val						p.G884V	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2940	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	884			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2651G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284452	0.40394	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	4.93	4.93	0.64822	.	0.108239	0.40818	N	0.001001	D	0.99661	0.9874	H	0.98507	4.25	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.97360	0.9969	10	0.87932	D	0	.	15.0819	0.72122	0.0:0.0:1.0:0.0	.	884	P08572	CO4A2_HUMAN	V	884	ENSP00000353654:G884V	ENSP00000257309:G884V	G	+	2	0	COL4A2	109930631	1.000000	0.71417	0.741000	0.31004	0.052000	0.14988	6.323000	0.72891	2.272000	0.75746	0.462000	0.41574	GGT		0.582	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		T	111132630	G	T	111132630	3	4	117	1	0	0	0	0	1	0	0	0	3690	1261	44	5	2769	5	COL4A2	13	111132630	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	11582825	111132630	4037248	78	8010											
ZFYVE26	23503	broad.mit.edu	37	chr14	68247033	68247033	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaggtctgccagtcacaCcacactgggggagactgcaa	11	6	11	13	0	3	1	2	0	1	1	3	2	3	1	2	3	2	1	2	3	2	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:68247033C>T	ENST00000347230.4	-	23	4737	c.4599G>A	c.(4597-4599)tgG>tgA	p.W1533*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.W1533*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1533					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAGTCACACCACACTGGGG	0.502																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4597-4599)tgG>tgA		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							88	68	75					14																	68247033		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68247033C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4599G>A	14.37:g.68247033C>T	ENSP00000251119:p.Trp1533*					ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.W1533*	p.W1533*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	22	4738	-			1533					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.4599G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	44	10.841020	0.99476	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.37	5.37	0.77165	.	0.066848	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8632	17.2907	0.87156	0.0:1.0:0.0:0.0	.	.	.	.	X	1533;1512;1533	.	ENSP00000251119:W1533X	W	-	3	0	ZFYVE26	67316786	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.101000	0.64566	2.514000	0.84764	0.561000	0.74099	TGG		0.502	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68247033	C	T	68247033	4	4	117	1	0	0	0	0	0	1	0	0	17665	508	18	3	3100	3	ZFYVE26	14	68247033	Nonsense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		68247033	39102507	79	8011											
NDUFB1	53981	broad.mit.edu	37	chr14	92588104	92588104	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcccgcacggagcagagggGtgacgccagcaaatcatact	11	4	13	13	4	1	2	1	1	0	1	1	3	1	3	2	3	3	3	2	3	2	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:92588104G>C	ENST00000298875.4	+	0	0				NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000553514.1_5'Flank|NDUFB1_ENST00000329559.3_Missense_Mutation_p.H6Q|NDUFB1_ENST00000605997.1_5'Flank|NDUFB1_ENST00000556555.1_5'Flank	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GAGCAGAGGGGTGACGCCAGC	0.517																																					Ovarian(78;28 1788 18702 44111)	uc001yaf.3																			0				large_intestine(1)|lung(1)	2						c.(16-18)caC>caG		Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa (NDUFB1), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						53	58	56					14																	92588104		2203	4299	6502	SO:0001631	upstream_gene_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588104G>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0			14.37:g.92588104G>C	Exception_encountered					NDUFB1_uc001yag.1_Non-coding_Transcript|CPSF2_uc001yah.2_5'Flank	p.H6Q	NM_004545	NP_004536	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	0	50	-		all_cancers(154;0.0766)	14					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.18C>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386149	0.82902	.	.	ENSG00000183648	ENST00000329559	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	T	0.64382	0.2593	.	.	.	0.80722	D	1	D	0.54207	0.965	P	0.51229	0.663	T	0.70107	-0.4963	7	0.87932	D	0	.	12.627	0.56636	0.0:0.0:1.0:0.0	.	6	O75438-2	.	Q	6	.	ENSP00000330787:H6Q	H	-	3	2	NDUFB1	91657857	0.975000	0.34042	0.845000	0.33349	0.228000	0.25075	1.799000	0.38824	2.086000	0.62901	0.555000	0.69702	CAC		0.517	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			C	92588104	G	C	92588104	1	2	117	0	1	0	0	0	0	0	0	0	10278	1252	44	5		5	NDUFB1	14	92588104	5'Flank	SNP	G	TCGA-12-0821-01A-01W-0424-08	24341071	92588104	14761436	80	8012											
SERPINA1	5265	broad.mit.edu	37	chr14	94849084	94849084	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgacagtgaaggcttctGagtggtacaactttttaaca	12	13	10	6	0	1	3	0	3	1	0	1	3	1	3	0	2	3	3	0	2	4	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:94849084G>T	ENST00000448921.1	-	4	1063	c.491C>A	c.(490-492)tCa>tAa	p.S164*	SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.S164*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	164					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAAGGCTTCTGAGTGGTACAA	0.502																																						uc001ycy.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(490-492)tCa>tAa		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	Alpha-1-proteinase inhibitor(DB00058)						113	114	114					14																	94849084		2203	4300	6503	SO:0001587	stop_gained	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849084G>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.491C>A	14.37:g.94849084G>T	ENSP00000416066:p.Ser164*					SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.S164*	p.S164*	NM_001002236	NP_001121179	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	1045	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	164					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Nonsense_Mutation	SNP	ENST00000448921.1	37	c.491C>A	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	38	7.056268	0.98032	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720	.	.	.	5.94	5.94	0.96194	.	0.679175	0.13516	N	0.382102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2697	0.87097	0.0:0.1252:0.8748:0.0	.	.	.	.	X	164;164;164;164;164;164;164;164;164;78	.	ENSP00000348068:S164X	S	-	2	0	SERPINA1	93918837	0.048000	0.20356	0.044000	0.18714	0.355000	0.29361	2.308000	0.43690	2.826000	0.97356	0.561000	0.74099	TCA		0.502	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		T	94849084	G	T	94849084	4	4	117	1	0	0	0	0	0	1	0	0	14086	1294	45	5	781	5	SERPINA1	14	94849084	Nonsense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	2260980	94849084	12500456	81	8013											
LCMT2	9836	broad.mit.edu	37	chr15	43622424	43622425	+	Frame_Shift_Del	DEL	GA	GA	-																															agcgagtcgaagccagcgccGagagacaagatctgcgcgcg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:43622424_43622425delGA	ENST00000305641.5	-	1	378_379	c.263_264delTC	c.(262-264)ctcfs	p.L88fs	ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	88					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGCCAGCGCCGAGAGACAAGAT	0.668																																						uc001zrg.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(262-264)ctcfs		Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622424_43622425delGA	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.263_264delTC	15.37:g.43622428_43622429delGA	ENSP00000307214:p.Leu88fs					ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	p.L88fs	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	0	396_397	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	88					Q4JFT6|Q96B55|Q9NR10	Frame_Shift_Del	DEL	ENST00000305641.5	37	c.263_264delTC	CCDS10094.1																																																																																				0.668	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		-	43622425	GA	-	43622424	7	5	117	1	0	1	0	1	0	0	0	0	8679	1045	37	0	1800	0	LCMT2	15	43622424	Frame_Shift_Del	DEL	GA	TCGA-12-0821-01A-01W-0424-08		43622424	58908968	82	8014											
UNC13C	440279	broad.mit.edu	37	chr15	54624283	54624283	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaccagttacataactctTtgaggattgatctgtcaaag	12	13	9	7	0	3	2	1	2	2	0	3	4	3	4	1	2	2	1	1	2	3	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:54624283T>A	ENST00000260323.11	+	14	4468	c.4468T>A	c.(4468-4470)Ttg>Atg	p.L1490M	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1490M|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1488M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1490					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATAACTCTTTGAGGATTGA	0.328																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4462-4464)Ttg>Atg		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							100	88	92					15																	54624283		1799	4063	5862	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54624283T>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4468T>A	15.37:g.54624283T>A	ENSP00000260323:p.Leu1490Met					UNC13C_uc021sms.1_Missense_Mutation_p.L1490M|UNC13C_uc002acl.3_Missense_Mutation_p.L320M	p.L1488M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	12	4462	+			1490					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4462T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224803	0.58668	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84660	-1.87;-1.88;-1.87	5.6	-0.598	0.11649	.	0.158522	0.42548	D	0.000689	D	0.90998	0.7169	M	0.82923	2.615	0.43394	D	0.995514	D;D	0.76494	0.999;0.999	D;D	0.85130	0.993;0.997	D	0.89512	0.3772	10	0.72032	D	0.01	.	11.6182	0.51102	0.0:0.4168:0.0:0.5832	.	1490;1490	F5H090;Q8NB66	.;UN13C_HUMAN	M	1490;1490;1488	ENSP00000260323:L1490M;ENSP00000438156:L1490M;ENSP00000442569:L1488M	ENSP00000260323:L1490M	L	+	1	2	UNC13C	52411575	0.428000	0.25522	0.947000	0.38551	0.898000	0.52572	0.963000	0.29293	-0.305000	0.08831	-1.139000	0.01908	TTG		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54624283	T	A	54624283	3	1	117	1	0	0	0	0	1	0	0	0	16983	1838	64	5	4518	5	UNC13C	15	54624283	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	11001859	54624283	47907109	83	8015											
MCTP2	55784	broad.mit.edu	37	chr15	94899492	94899492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgacagagatgtttGtccagttaaaactgggagat	14	10	12	5	0	0	3	0	1	0	2	1	6	1	3	1	1	2	3	1	1	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:94899492G>T	ENST00000357742.4	+	8	1132	c.1132G>T	c.(1132-1134)Gtc>Ttc	p.V378F	MCTP2_ENST00000451018.3_Missense_Mutation_p.V378F|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.V378F|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	378	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAGATGTTTGTCCAGTTAAA	0.348																																						uc002btj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1132-1134)Gtc>Ttc		Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.							86	90	89					15																	94899492		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94899492G>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1132G>T	15.37:g.94899492G>T	ENSP00000350377:p.Val378Phe					MCTP2_uc010urg.1_Missense_Mutation_p.V378F|MCTP2_uc002bti.2_Missense_Mutation_p.V378F|MCTP2_uc010boj.3_Missense_Mutation_p.V107F|MCTP2_uc010bok.3_Missense_Mutation_p.V378F|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	p.V378F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		7	1197	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		378			C2 2.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1132G>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409337	0.83340	.	.	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.76709	-1.04;2.07;2.07	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.061506	0.64402	D	0.000005	D	0.87346	0.6154	M	0.81179	2.53	0.80722	D	1	D;P;D;D	0.69078	0.997;0.917;0.992;0.995	D;P;D;P	0.67382	0.951;0.887;0.943;0.894	D	0.87633	0.2517	10	0.52906	T	0.07	.	14.2073	0.65741	0.073:0.0:0.927:0.0	.	378;378;378;378	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	F	378	ENSP00000438521:V378F;ENSP00000395109:V378F;ENSP00000350377:V378F	ENSP00000350377:V378F	V	+	1	0	MCTP2	92700496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.629000	0.61290	2.729000	0.93468	0.650000	0.86243	GTC		0.348	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94899492	G	T	94899492	3	4	117	1	0	0	0	0	1	0	0	0	9401	1377	48	5	1162	5	MCTP2	15	94899492	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	40275209	94899492	7631900	84	8016											
CLEC16A	23274	broad.mit.edu	37	chr16	11118694	11118694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagacccttcctggatatgGtgtaccacgcgctggacagc	8	8	11	14	2	0	1	0	0	0	1	1	3	1	3	4	3	2	2	4	3	2	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:11118694G>C	ENST00000409790.1	+	13	1683	c.1453G>C	c.(1453-1455)Gtg>Ctg	p.V485L	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.V467L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGATATGGTGTACCACGC	0.547																																						uc021tcy.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1453-1455)Gtg>Ctg		Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.							78	81	80					16																	11118694		2092	4229	6321	SO:0001583	missense	23274							g.chr16:11118694G>C	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1453G>C	16.37:g.11118694G>C	ENSP00000387122:p.Val485Leu					CLEC16A_uc002dan.4_Missense_Mutation_p.V467L|CLEC16A_uc002dao.3_Missense_Mutation_p.V483L	p.V485L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			12	1683	+			485						Missense_Mutation	SNP	ENST00000409790.1	37	c.1453G>C	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062756	0.55432	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50548	0.74	5.33	5.33	0.75918	.	0.054903	0.64402	D	0.000001	T	0.33265	0.0857	L	0.28458	0.855	0.80722	D	1	B;B	0.15141	0.012;0.006	B;B	0.16722	0.015;0.016	T	0.12451	-1.0547	10	0.05620	T	0.96	-24.4193	14.9033	0.70696	0.0:0.0:1.0:0.0	.	485;467	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	485;485;467	ENSP00000387122:V485L	ENSP00000386495:V467L	V	+	1	0	CLEC16A	11026195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.540000	0.73861	2.652000	0.90054	0.655000	0.94253	GTG		0.547	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		C	11118694	G	C	11118694	3	2	117	1	0	0	0	0	1	0	0	0	3500	1261	44	5	1499	5	CLEC16A	16	11118694	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		11118694	79236059	85	8017											
CHST4	10164	broad.mit.edu	37	chr16	71570968	71570968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagtgggagaacagcCgggccctgtgttctgcacct	6	11	12	12	1	3	1	1	0	2	1	3	2	3	1	3	2	3	2	3	2	1	2	rs368228807		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:71570968C>T	ENST00000338482.5	+	3	731	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R130W|CHST4_ENST00000539698.3_Missense_Mutation_p.R130W|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	130					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGAGAACAGCCGGGCCCTGTG	0.572																																						uc021tkt.1																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(388-390)Cgg>Tgg		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4396		0,0,2198	54	60	58		388,388	4.8	1	16		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHST4	NM_001166395.1,NM_005769.2	101,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	130/387,130/387	71570968	1,12995	2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570968C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.388C>T	16.37:g.71570968C>T	ENSP00000341206:p.Arg130Trp					CHST4_uc002fan.3_Missense_Mutation_p.R130W|CHST4_uc002fao.3_Missense_Mutation_p.R130W	p.R130W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			0	388	+			130					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.388C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421123	0.62622	0.0	1.16E-4	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.96830	-4.14;-4.14	5.8	4.77	0.60923	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.90870	3.155	0.41774	D	0.989786	D	0.89917	1.0	D	0.91635	0.999	D	0.98708	1.0703	10	0.87932	D	0	2.6049	12.8719	0.57970	0.2323:0.7677:0.0:0.0	.	130	Q8NCG5	CHST4_HUMAN	W	130	ENSP00000341206:R130W;ENSP00000441204:R130W	ENSP00000341206:R130W	R	+	1	2	CHST4	70128469	0.987000	0.35691	1.000000	0.80357	0.710000	0.40934	0.315000	0.19451	2.735000	0.93741	0.655000	0.94253	CGG		0.572	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		T	71570968	C	T	71570968	3	4	117	1	0	0	0	0	1	0	0	0	3406	643	23	2	390	2	CHST4	16	71570968	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	60452274	71570968	18783785	86	8018											
ZCCHC14	23174	broad.mit.edu	37	chr16	87448975	87448975	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtaaggctcaaaaacTttcacagaaaaaacaaatta	20	9	4	8	0	3	1	3	0	0	1	3	1	3	1	0	1	2	2	0	1	8	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:87448975T>G	ENST00000268616.4	-	9	1190		c.e9-2			NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14								nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTCAAAAACTTTCACAGAAA	0.398																																						uc002fjz.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.e9-1		Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.							83	83	83					16																	87448975		2198	4300	6498	SO:0001630	splice_region_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448975T>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.973-2A>C	16.37:g.87448975T>G						ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.3_Splice_Site_p.F101_splice	p.F325_splice	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1000	-			325					D3DUN1|O60324|Q3MJD8|Q9UFP0	Splice_Site	SNP	ENST00000268616.4	37	c.973_splice	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800664	0.50315	.	.	ENSG00000140948	ENST00000268616	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC14	86006476	1.000000	0.71417	0.965000	0.40720	0.444000	0.32077	6.794000	0.75135	2.226000	0.72624	0.459000	0.35465	.		0.398	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	Intron	G	87448975	T	G	87448975	5	3	117	1	0	0	0	0	0	0	1	0	17580	1623	56	5	1898	5	ZCCHC14	16	87448975	Splice_Site	SNP	T	TCGA-12-0821-01A-01W-0424-08	15878007	87448975	2905778	87	8019											
ALOX15	246	broad.mit.edu	37	chr17	4542381	4542381	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcttccagctcttcttcCcggtgtttctggaacaggcc	4	14	8	15	1	4	0	0	0	4	0	7	1	6	1	3	3	2	2	3	3	1	4	rs146477215		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4542381C>G	ENST00000570836.1	-	4	480	c.384G>C	c.(382-384)cgG>cgC	p.R128R	ALOX15_ENST00000574640.1_Silent_p.R89R|ALOX15_ENST00000545513.1_Silent_p.R150R|ALOX15_ENST00000293761.3_Silent_p.R128R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	128	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R128R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCTCTTCTTCCCGGTGTTTCT	0.577																																						uc002fyh.3																			1	Substitution - coding silent(1)	p.R128R(2)	skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(382-384)cgG>cgC		Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						151	134	139					17																	4542381		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542381C>G	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.384G>C	17.37:g.4542381C>G						ALOX15_uc010vsd.2_Silent_p.R89R|ALOX15_uc010vse.2_Silent_p.R150R	p.R128R	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	2	409	-			128			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.384G>C	CCDS11049.1																																																																																				0.577	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			G	4542381	C	G	4542381	2	3	117	1	0	0	0	0	0	0	0	1	538	610	22	5		5	ALOX15	17	4542381	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08		4542381	76652829	88	8020											
DAPK3	1613	broad.mit.edu	37	chr19	3961153	3961153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaacggggatgcaccGctcaggctgcgagacaggcg	9	3	16	13	4	1	1	1	0	0	1	1	4	1	3	2	5	3	3	2	5	1	0	rs370261717		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:3961153G>A	ENST00000545797.2	-	7	879	c.636C>T	c.(634-636)agC>agT	p.S212S	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Silent_p.S212S			O43293	DAPK3_HUMAN	death-associated protein kinase 3	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCACCGCTCAGGCTGC	0.662																																						uc002lzc.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(634-636)agC>agT		Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.		G		0,4402		0,0,2201	68	54	59		636	-2	0.6	19		59	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	DAPK3	NM_001348.1		0,3,6497	AA,AG,GG		0.0349,0.0,0.0231		212/455	3961153	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3961153G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.636C>T	19.37:g.3961153G>A						DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	p.S212S	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	730	-		Hepatocellular(1079;0.137)	212			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.636C>T	CCDS12116.1																																																																																				0.662	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		A	3961153	G	A	3961153	2	1	117	1	0	0	0	0	0	0	0	1	4237	1078	38	1		1	DAPK3	19	3961153	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		3961153	55167830	89	8021											
TSPAN16	26526	broad.mit.edu	37	chr19	11411902	11411902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgtggccttggaacacaCcttcgtgaccctgaggaaga	11	8	12	10	1	0	4	0	2	0	2	1	6	0	6	3	3	1	0	3	3	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:11411902C>T	ENST00000316737.1	+	4	518	c.368C>T	c.(367-369)aCc>aTc	p.T123I	TSPAN16_ENST00000592955.1_Missense_Mutation_p.T98I|TSPAN16_ENST00000590327.1_Missense_Mutation_p.T123I|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	123						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TTGGAACACACCTTCGTGACC	0.498																																						uc002mqv.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(367-369)aCc>aTc		Homo sapiens tetraspanin 16 (TSPAN16), mRNA.							159	131	140					19																	11411902		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11411902C>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"Tetraspanins"	30725	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 16"	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.368C>T	19.37:g.11411902C>T	ENSP00000319486:p.Thr123Ile					TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Non-coding_Transcript	p.T123I	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			3	518	+			123					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.368C>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.929736	0.00488	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.80123	-1.34;-1.34	3.33	-6.67	0.01783	Tetraspanin, EC2 domain (1);	1.812420	0.03505	N	0.218734	T	0.50650	0.1628	N	0.02539	-0.55	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.49143	-0.8970	10	0.25106	T	0.35	-1.1172	1.0228	0.01521	0.3548:0.2051:0.2927:0.1474	.	123	Q9UKR8	TSN16_HUMAN	I	123	ENSP00000319486:T123I;ENSP00000338759:T123I	ENSP00000319486:T123I	T	+	2	0	TSPAN16	11272902	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.002000	0.01464	-3.430000	0.00165	-1.286000	0.01371	ACC		0.498	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		T	11411902	C	T	11411902	3	4	117	1	0	0	0	0	1	0	0	0	16637	507	18	3	382	3	TSPAN16	19	11411902	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7450749	11411902	47717081	90	8022											
CYP4F12	66002	broad.mit.edu	37	chr19	15791069	15791069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagctgccattgcacccaAggataatctcttcatcaggt	10	11	8	12	0	4	0	3	0	1	0	5	1	4	1	2	2	3	2	2	2	2	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:15791069A>G	ENST00000550308.1	+	4	739	c.359A>G	c.(358-360)aAg>aGg	p.K120R	CYP4F12_ENST00000324632.10_Missense_Mutation_p.K120R	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	120					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATTGCACCCAAGGATAATCTC	0.562																																						uc002nbl.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(358-360)aAg>aGg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.							142	145	144					19																	15791069		2190	4292	6482	SO:0001583	missense	66002							g.chr19:15791069A>G	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.359A>G	19.37:g.15791069A>G	ENSP00000448998:p.Lys120Arg					CYP4F12_uc010xoo.2_Missense_Mutation_p.K120R|CYP4F12_uc010xop.2_Missense_Mutation_p.K120R	p.K120R	NM_023944	NP_076433					3	478	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.359A>G	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485109	0.44147	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.80824	-1.42;-1.42	2.36	2.36	0.29203	.	0.350716	0.23780	U	0.044622	D	0.87601	0.6218	M	0.83603	2.65	0.24533	N	0.994103	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.76806	-0.2823	10	0.87932	D	0	.	6.6436	0.22923	1.0:0.0:0.0:0.0	.	120;120;120	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	R	120	ENSP00000448998:K120R;ENSP00000321821:K120R	ENSP00000321821:K120R	K	+	2	0	CYP4F12	15652069	1.000000	0.71417	0.031000	0.17742	0.006000	0.05464	2.808000	0.47963	1.329000	0.45376	0.402000	0.26972	AAG		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15791069	A	G	15791069	3	3	117	1	0	0	0	0	1	0	0	0	4187	72	3	4	369	4	CYP4F12	19	15791069	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	4379167	15791069	43337914	91	8023											
NDUFA13	51079	broad.mit.edu	37	chr19	19638108	19638108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcctacaaatcgaggaCttcgaggctcgcatcgcgct	9	7	12	13	6	0	0	0	0	0	0	4	3	0	1	1	3	1	3	1	3	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:19638108C>T	ENST00000507754.4	+	3	676	c.192C>T	c.(190-192)gaC>gaT	p.D64D	NDUFA13_ENST00000512771.3_Silent_p.D64D|YJEFN3_ENST00000608404.1_Silent_p.D64D|NDUFA13_ENST00000503283.1_Silent_p.D64D|NDUFA13_ENST00000252576.5_Silent_p.D147D|CTC-260F20.3_ENST00000555938.1_Silent_p.D64D|YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Silent_p.D64D			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	64					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						AAATCGAGGACTTCGAGGCTC	0.642																																						uc002nmt.2																			0				NS(1)|breast(1)|lung(3)	5								Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							68	61	63					19																	19638108		2203	4300	6503	SO:0001819	synonymous_variant	51079							g.chr19:19638108C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.192C>T	19.37:g.19638108C>T						YJEFN3_uc021uqu.1_Silent_p.D64D|YJEFN3_uc021uqv.1_Silent_p.D64D|YJEFN3_uc021uqw.1_Silent_p.D64D|YJEFN3_uc010ecf.2_5'Flank|YJEFN3_uc002nmu.2_5'Flank		NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN					+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37		CCDS12404.2																																																																																				0.642	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19638108	C	T	19638108	2	4	117	1	0	0	0	0	0	0	0	1	10263	564	20	3		3	NDUFA13	19	19638108	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	3847039	19638108	39490875	92	8024											
ZNF536	9745	broad.mit.edu	37	chr19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccggcccaaccccgAggagaagccccccgcatccc	8	2	8	23	3	0	1	0	0	0	1	2	3	2	1	10	2	2	1	10	2	2	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:30934639A>G	ENST00000355537.3	+	2	317	c.170A>G	c.(169-171)gAg>gGg	p.E57G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	57					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677																																						uc002nsu.1																			0		p.P56A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(169-171)gAg>gGg		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							46	50	49					19																	30934639		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934639A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.170A>G	19.37:g.30934639A>G	ENSP00000347730:p.Glu57Gly					ZNF536_uc010edd.1_Missense_Mutation_p.E57G	p.E57G	NM_014717	NP_055532	O15090	ZN536_HUMAN			1	308	+	Esophageal squamous(110;0.0834)		57					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.170A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359088	0.61403	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.01557	-1.1325	10	0.33141	T	0.24	-37.5234	15.6688	0.77255	1.0:0.0:0.0:0.0	.	57;57	A7E228;O15090	.;ZN536_HUMAN	G	57	ENSP00000347730:E57G	ENSP00000347730:E57G	E	+	2	0	ZNF536	35626479	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.254000	0.95512	2.172000	0.68678	0.379000	0.24179	GAG		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		G	30934639	A	G	30934639	3	3	117	1	0	0	0	0	1	0	0	0	17971	304	11	4	172	4	ZNF536	19	30934639	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	11296531	30934639	28194344	93	8025											
GPR4	2828	broad.mit.edu	37	chr19	46094672	46094672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtcatggaacaggggCgccgagttggcgcccagctc	7	6	15	13	4	1	0	1	0	0	0	3	2	1	1	2	4	3	3	2	4	1	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46094672C>T	ENST00000323040.4	-	2	1397	c.453G>A	c.(451-453)gcG>gcA	p.A151A	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	151					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAACAGGGGCGCCGAGTTGG	0.657																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0		p.A151S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(451-453)gcG>gcA		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							47	51	49					19																	46094672		2203	4299	6502	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094672C>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.453G>A	19.37:g.46094672C>T						OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.A151A	p.A151A	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1398	-			151					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.453G>A	CCDS12669.1																																																																																				0.657	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094672	C	T	46094672	2	4	117	1	0	0	0	0	0	0	0	1	6694	755	27	1		1	GPR4	19	46094672	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	15160033	46094672	13034311	94	8026											
ZNF814	730051	broad.mit.edu	37	chr19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagatctttctctagggtGaactcgctgatgtagaatga	12	13	10	6	1	2	5	0	3	2	2	4	5	2	5	0	1	1	2	0	1	5	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:58385050G>A	ENST00000435989.2	-	3	1942	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	570					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCTAGGGTGAACTCGCTGA	0.468																																						uc002qqo.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1708-1710)Cac>Tac		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							99	81	86					19																	58385050		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385050G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1708C>T	19.37:g.58385050G>A	ENSP00000410545:p.His570Tyr					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.H570Y	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1980	-			570					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1708C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.741734	0.30865	.	.	ENSG00000204514	ENST00000435989	T	0.28895	1.59	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40932	0.1137	H	0.95712	3.71	0.25009	N	0.991418	B	0.30584	0.286	B	0.20955	0.032	T	0.48927	-0.8991	9	0.72032	D	0.01	.	5.9789	0.19395	0.1797:0.0:0.8203:0.0	.	570	B7Z6K7	ZN814_HUMAN	Y	570	ENSP00000410545:H570Y	ENSP00000410545:H570Y	H	-	1	0	ZNF814	63076862	1.000000	0.71417	0.044000	0.18714	0.095000	0.18619	5.485000	0.66850	0.947000	0.37659	0.306000	0.20318	CAC		0.468	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385050	G	A	58385050	3	1	117	1	0	0	0	0	1	0	0	0	18173	1290	45	3	863	3	ZNF814	19	58385050	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	12290378	58385050	743933	95	8027											
SRMS	6725	broad.mit.edu	37	chr20	62172863	62172863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgagcacgttccgggCggccaagtcccggtgcacaa	8	5	13	15	5	0	0	0	0	0	0	3	1	3	0	4	3	2	3	4	3	2	1	rs61740255	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:62172863C>T	ENST00000217188.1	-	6	1097	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACGTTCCGGGCGGCCAAGTCC	0.706																																						uc002yfi.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1057-1059)Gcc>Acc		Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.		C	THR/ALA	0,4372		0,0,2186	18	18	18		1057	2	0.5	20	dbSNP_129	18	1,8577		0,1,4288	no	missense	SRMS	NM_080823.2	58	0,1,6474	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	353/489	62172863	1,12949	2186	4289	6475	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172863C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1057G>A	20.37:g.62172863C>T	ENSP00000217188:p.Ala353Thr						p.A353T	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		5	1098	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		353			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1057G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964193	0.53507	0.0	1.17E-4	ENSG00000125508	ENST00000217188	T	0.12361	2.69	4.03	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	T	0.29288	0.0729	M	0.61703	1.905	0.46564	D	0.999106	D	0.89917	1.0	D	0.97110	1.0	T	0.00936	-1.1508	10	0.72032	D	0.01	.	8.0019	0.30301	0.1583:0.7545:0.0:0.0872	.	353	Q9H3Y6	SRMS_HUMAN	T	353	ENSP00000217188:A353T	ENSP00000217188:A353T	A	-	1	0	SRMS	61643307	1.000000	0.71417	0.453000	0.27007	0.008000	0.06430	5.718000	0.68455	0.277000	0.22141	0.462000	0.41574	GCC		0.706	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		T	62172863	C	T	62172863	3	4	117	1	0	0	0	0	1	0	0	0	15151	768	27	1	421	1	SRMS	20	62172863	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		62172863	852657	96	8028											
ZNRF3	84133	broad.mit.edu	37	chr22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcaagctgaagcagCgacgcagtcaggtagtgcct	13	7	11	10	2	3	1	3	1	0	0	3	2	3	1	1	1	4	4	1	1	5	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:29440867C>T	ENST00000544604.2	+	5	908	c.733C>T	c.(733-735)Cga>Tga	p.R245*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.R145*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.R145*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.R145*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	245					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGAAGCAGCGACGCAGTCA	0.512																																						uc003aeg.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(733-735)Cga>Tga		Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.							121	123	123					22																	29440867		2071	4192	6263	SO:0001587	stop_gained	84133					integral to membrane	zinc ion binding	g.chr22:29440867C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.733C>T	22.37:g.29440867C>T	ENSP00000443824:p.Arg245*					ZNRF3_uc021wnq.1_Nonsense_Mutation_p.R145*	p.R245*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN			4	733	+			245					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	37	c.733C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	37	6.186568	0.97357	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	.	.	.	5.56	3.26	0.37387	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7454	15.3395	0.74284	0.2648:0.7352:0.0:0.0	.	.	.	.	X	245;145;145;145	.	ENSP00000328614:R145X	R	+	1	2	ZNRF3	27770867	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.882000	0.48546	1.336000	0.45506	0.655000	0.94253	CGA		0.512	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		T	29440867	C	T	29440867	4	4	117	1	0	0	0	0	0	1	0	0	18210	760	27	1	447	1	ZNRF3	22	29440867	Nonsense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		29440867	21863699	97	8029											
GCAT	23464	broad.mit.edu	37	chr22	38211771	38211771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgctgtcgttggctgcGcctccaaggccctagatctg	5	10	11	15	2	1	1	0	0	1	1	3	1	2	1	4	2	2	3	4	2	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:38211771G>A	ENST00000248924.6	+	7	972	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	GCAT_ENST00000323205.6_Missense_Mutation_p.A332T	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	306					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CGTTGGCTGCGCCTCCAAGGC	0.657																																						uc003aua.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(994-996)Gcc>Acc		Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						108	113	111					22																	38211771		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211771G>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.916G>A	22.37:g.38211771G>A	ENSP00000248924:p.Ala306Thr					GCAT_uc003atz.3_Missense_Mutation_p.A306T	p.A332T	NM_001171690	NP_001165161	O75600	KBL_HUMAN			6	1057	+	Melanoma(58;0.045)		306					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.994G>A	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445977	0.63178	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.90788	-2.73;-2.73	4.72	3.65	0.41850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.054303	0.64402	D	0.000001	D	0.87529	0.6200	L	0.43757	1.38	0.80722	D	1	P;P	0.40197	0.706;0.564	B;B	0.41332	0.354;0.168	D	0.88527	0.3100	10	0.52906	T	0.07	-6.3054	14.3358	0.66589	0.0:0.0:0.8515:0.1485	.	332;306	E2QC23;O75600	.;KBL_HUMAN	T	332;306	ENSP00000371110:A332T;ENSP00000248924:A306T	ENSP00000248924:A306T	A	+	1	0	GCAT	36541717	1.000000	0.71417	0.980000	0.43619	0.897000	0.52465	7.089000	0.76909	2.455000	0.83008	0.561000	0.74099	GCC		0.657	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		A	38211771	G	A	38211771	3	1	117	1	0	0	0	0	1	0	0	0	6284	1087	38	1	1020	1	GCAT	22	38211771	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	8770904	38211771	13092795	98	8030											
NXF3	56000	broad.mit.edu	37	chrX	102339283	102339283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcactgtgatcttgaacCagctccctaaggtcccatcc	9	10	6	16	0	2	2	1	2	1	0	5	2	5	2	4	1	2	1	4	1	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:102339283C>G	ENST00000395065.3	-	3	439	c.338G>C	c.(337-339)tGg>tCg	p.W113S	NXF3_ENST00000425463.2_Missense_Mutation_p.W24S|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	113	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTTGAACCAGCTCCCTAA	0.463																																						uc004eju.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(337-339)tGg>tCg		Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.							199	159	173					X																	102339283		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339283C>G	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.338G>C	X.37:g.102339283C>G	ENSP00000378504:p.Trp113Ser					NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	p.W113S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			2	409	-			113			RRM.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.338G>C	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	8.827	0.938868	0.18281	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.58652	0.32;0.32	3.69	2.79	0.32731	Nuclear RNA export factor Tap, RNA-binding domain (2);	0.317835	0.36854	N	0.002375	T	0.74680	0.3748	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75207	-0.3399	10	0.72032	D	0.01	-2.1082	7.401	0.26965	0.2584:0.7416:0.0:0.0	.	113;113	B4DYI1;Q9H4D5	.;NXF3_HUMAN	S	113;24	ENSP00000378504:W113S;ENSP00000404347:W24S	ENSP00000378504:W113S	W	-	2	0	NXF3	102225939	0.999000	0.42202	0.945000	0.38365	0.006000	0.05464	1.708000	0.37899	0.885000	0.36088	0.544000	0.68410	TGG		0.463	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		G	102339283	C	G	102339283	3	3	117	1	0	0	0	0	1	0	0	0	10785	595	21	5	1325	5	NXF3	23	102339283	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		102339283	52931277	99	8031											
WDR44	54521	broad.mit.edu	37	chrX	117527112	117527112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcctgttccagcacGcccacctcctccaactaatt	12	8	5	16	1	0	1	0	0	0	1	3	1	3	1	6	0	3	2	6	0	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:117527112G>A	ENST00000254029.3	+	4	1099	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.R235H|WDR44_ENST00000371822.5_Missense_Mutation_p.R210H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	235	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522																																						uc004eqn.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(703-705)cGc>cAc		Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.							116	109	111					X																	117527112		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527112G>A	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.704G>A	X.37:g.117527112G>A	ENSP00000254029:p.Arg235His					WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	p.R235H	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			3	1135	+			235			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.704G>A	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371043	0.82573	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.78364	-1.17;-0.55;-0.42	5.51	5.51	0.81932	.	0.057212	0.64402	D	0.000001	D	0.83308	0.5226	L	0.34521	1.04	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.988;0.964	D	0.84826	0.0799	10	0.59425	D	0.04	-13.3787	18.4598	0.90735	0.0:0.0:1.0:0.0	.	210;235;235	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	H	210;235;235	ENSP00000360887:R210H;ENSP00000254029:R235H;ENSP00000360890:R235H	ENSP00000254029:R235H	R	+	2	0	WDR44	117411140	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	9.414000	0.97362	2.301000	0.77427	0.600000	0.82982	CGC		0.522	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		A	117527112	G	A	117527112	3	1	117	1	0	0	0	0	1	0	0	0	17293	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	15187829	117527112	37743448	100	8032											
STAG2	10735	broad.mit.edu	37	chrX	123176497	123176497	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgaagaattcgatgaggTaacttactaccttaagtgtt	13	13	9	6	1	0	3	0	2	0	1	1	5	0	3	1	1	3	2	1	1	6	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:123176497T>C	ENST00000371160.1	+	7	752		c.e7+2		STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGATGAGGTAACTTACTAC	0.333																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e7+2		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							77	72	73					X																	123176497		2203	4300	6503	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176497T>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.462+2T>C	X.37:g.123176497T>C						STAG2_uc004etz.4_Splice_Site_p.E154_splice|STAG2_uc004eub.3_Splice_Site_p.E154_splice|STAG2_uc004euc.3_Splice_Site_p.E154_splice|STAG2_uc004eud.3_Splice_Site_p.E154_splice|STAG2_uc004eue.3_Splice_Site_p.E154_splice	p.E154_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			7	866	+			154					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.462_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225276	0.79576	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0494	0.71854	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123004178	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.195000	0.72088	1.937000	0.56155	0.424000	0.28305	.		0.333	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron	C	123176497	T	C	123176497	5	2	117	1	0	0	0	0	0	0	1	0	15242	1652	57	4	482	4	STAG2	23	123176497	Splice_Site	SNP	T	TCGA-12-0821-01A-01W-0424-08	5649385	123176497	32094063	101	8033											
GPC4	2239	broad.mit.edu	37	chrX	132458560	132458560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcaagtagttctttgaaGaattctgaaaccaacaccaa	15	13	5	8	0	3	3	1	2	2	1	3	3	3	3	2	0	2	2	2	0	7	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:132458560G>A	ENST00000370828.3	-	3	848	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_ENST00000535467.1_Silent_p.F38F	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	108					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294																																						uc004exc.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(322-324)ttC>ttT		Homo sapiens glypican 4 (GPC4), mRNA.							75	81	79					X																	132458560		2200	4292	6492	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132458560G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.324C>T	X.37:g.132458560G>A						GPC4_uc011mvg.1_Silent_p.F38F	p.F108F	NM_001448	NP_001439	O75487	GPC4_HUMAN			2	536	-	Acute lymphoblastic leukemia(192;0.000127)		108					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.324C>T	CCDS14637.1																																																																																				0.294	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		A	132458560	G	A	132458560	2	1	117	1	0	0	0	0	0	0	0	1	6600	933	33	3		3	GPC4	23	132458560	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	9282063	132458560	22812000	102	8034											
SPANXC	64663	broad.mit.edu	37	chrX	140335819	140335820	+	Frame_Shift_Ins	INS	-	-	T																															cgaggactcagatgttttcaINStttttttaggagcaggttgc																								rs57835830	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:140335819_140335820insT	ENST00000358993.2	-	2	162_163	c.124_125insA	c.(124-126)atgfs	p.M42fs		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M42L(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGATGTTTTCATTTTTTTAGGA	0.5																																						uc004fbk.3																			1	Substitution - Missense(1)	p.M42L(2)|p.M42I(1)	large_intestine(1)	large_intestine(2)|lung(3)|pancreas(1)	6						c.(124-126)atgfs		Homo sapiens SPANX family, member C (SPANXC), mRNA.																																				SO:0001589	frameshift_variant	64663					cytoplasm|nucleus		g.chrX:140335819_140335820insT	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.125dupA	X.37:g.140335826_140335826dupT	ENSP00000351884:p.Met42fs					SPANXC_uc004fbl.3_Non-coding_Transcript	p.M42fs	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN			1	180_181	-	Acute lymphoblastic leukemia(192;7.65e-05)		42					Q32WL9|Q5JX88	Frame_Shift_Ins	INS	ENST00000358993.2	37	c.124_125insA	CCDS14673.1																																																																																				0.5	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		T	140335820	-	T	140335819	7	5	117	1	0	1	1	0	0	0	0	0	14987	217	8	0	172	0	SPANXC	23	140335819	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	7877259	140335819	14934741	103	8035											
UBR4	23352	broad.mit.edu	37	chr1	19484449	19484449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctccactgtaattcatccGcacattctcaaaggcacctt	10	12	5	14	1	3	0	2	0	2	0	6	0	4	0	3	1	0	3	3	1	2	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:19484449G>A	ENST00000375254.3	-	40	5647	c.5620C>T	c.(5620-5622)Cgg>Tgg	p.R1874W	UBR4_ENST00000375217.2_Missense_Mutation_p.R1874W|UBR4_ENST00000375267.2_Missense_Mutation_p.R1874W|UBR4_ENST00000375226.2_Missense_Mutation_p.R1874W	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1874					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAATTCATCCGCACATTCTCA	0.537																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(5620-5622)Cgg>Tgg		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							188	167	174					1																	19484449		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19484449G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5620C>T	1.37:g.19484449G>A	ENSP00000364403:p.Arg1874Trp					UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	p.R1874W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	39	5624	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1874					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.5620C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128577	0.77549	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.34072	1.41;1.41;1.4;1.38	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.57323	-0.7831	10	0.87932	D	0	.	13.5324	0.61629	0.0:0.0:0.8443:0.1557	.	1874	Q5T4S7	UBR4_HUMAN	W	1874;1874;1874;1874;584;1090	ENSP00000364403:R1874W;ENSP00000364416:R1874W;ENSP00000364365:R1874W;ENSP00000364374:R1874W	ENSP00000364365:R1874W	R	-	1	2	UBR4	19357036	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.227000	0.51262	2.386000	0.81285	0.591000	0.81541	CGG		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19484449	G	A	19484449	3	1	118	1	0	0	0	0	1	0	0	0	16901	1086	38	1	10199	1	UBR4	1	19484449	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		19484449	229766172	1	8036											
C1orf173	127254	broad.mit.edu	37	chr1	75038513	75038513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctctctttgatgctgtgtCctccatgggtcctgtgtcct	2	17	9	13	0	2	1	0	1	2	0	7	1	6	1	4	1	1	1	4	1	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75038513C>G	ENST00000326665.5	-	14	3099	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		961	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGCTGTGTCCTCCATGGGT	0.522																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2881-2883)Gac>Cac		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							148	140	143					1																	75038513		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038513C>G																												ENST00000326665.5:c.2881G>C	1.37:g.75038513C>G	ENSP00000322609:p.Asp961His						p.D961H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	3100	-			961			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2881G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439456	0.25900	.	.	ENSG00000178965	ENST00000326665	T	0.30182	1.54	5.13	-0.165	0.13355	.	.	.	.	.	T	0.08403	0.0209	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.35649	-0.9780	9	0.45353	T	0.12	-2.7246	5.2309	0.15422	0.0:0.3681:0.2515:0.3804	.	961	Q5RHP9	CA173_HUMAN	H	961	ENSP00000322609:D961H	ENSP00000322609:D961H	D	-	1	0	C1orf173	74811101	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	0.343000	0.19944	-0.046000	0.13446	0.462000	0.41574	GAC		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75038513	C	G	75038513	3	3	118	1	0	0	0	0	1	0	0	0	2014	855	30	5	1715	5	C1orf173	1	75038513	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	55554064	75038513	174212108	2	8037											
C1orf173	127254	broad.mit.edu	37	chr1	75055650	75055650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatgaccttctggcaCtttcatctgtgctgctgtca	8	13	10	10	0	4	3	2	1	2	2	4	4	4	3	1	1	2	3	1	1	1	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75055650C>A	ENST00000326665.5	-	12	2059	c.1841G>T	c.(1840-1842)aGt>aTt	p.S614I	C1orf173_ENST00000420661.2_Missense_Mutation_p.S417I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1840-1842)aGt>aTt		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							92	88	89					1																	75055650		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055650C>A																												ENST00000326665.5:c.1841G>T	1.37:g.75055650C>A	ENSP00000322609:p.Ser614Ile					CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S408I	p.S614I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	2060	-			614			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1841G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953281	0.53293	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19105	2.6;2.17	5.26	2.19	0.27852	.	.	.	.	.	T	0.16811	0.0404	L	0.52573	1.65	0.09310	N	1	D;D	0.71674	0.993;0.998	P;D	0.63381	0.804;0.914	T	0.06110	-1.0845	9	0.40728	T	0.16	-0.0141	4.3734	0.11258	0.0:0.5858:0.2057:0.2085	.	417;614	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	614;417	ENSP00000322609:S614I;ENSP00000398581:S417I	ENSP00000322609:S614I	S	-	2	0	C1orf173	74828238	0.000000	0.05858	0.157000	0.22605	0.293000	0.27360	0.403000	0.20982	1.215000	0.43411	0.637000	0.83480	AGT		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75055650	C	A	75055650	3	1	118	1	0	0	0	0	1	0	0	0	2014	565	20	5	2763	5	C1orf173	1	75055650	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	17137	75055650	174194971	3	8038											
NGF	4803	broad.mit.edu	37	chr1	115828831	115828831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtacaatatgagttccagtGctttgagtcaatgccccggc	9	11	11	10	1	1	2	1	2	0	0	2	2	2	2	3	2	3	3	3	2	4	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:115828831G>A	ENST00000369512.2	-	3	754	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	196					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAGTTCCAGTGCTTTGAGTCA	0.517																																						uc021osd.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(586-588)Cac>Tac		Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	Clenbuterol(DB01407)						92	89	90					1																	115828831		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828831G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.586C>T	1.37:g.115828831G>A	ENSP00000358525:p.His196Tyr					NGF_uc001efu.1_Missense_Mutation_p.H196Y	p.H196Y	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	0	586	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	196					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.586C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575336	0.65878	.	.	ENSG00000134259	ENST00000369512	T	0.69806	-0.43	4.9	4.9	0.64082	Nerve growth factor-related (5);Nerve growth factor conserved site (1);	0.101468	0.64402	D	0.000003	T	0.75117	0.3806	M	0.64567	1.98	0.58432	D	0.999999	D	0.76494	0.999	D	0.66979	0.948	T	0.78406	-0.2216	10	0.87932	D	0	-21.2001	17.1926	0.86883	0.0:0.0:1.0:0.0	.	196	P01138	NGF_HUMAN	Y	196	ENSP00000358525:H196Y	ENSP00000358525:H196Y	H	-	1	0	NGF	115630354	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.499000	0.73683	2.426000	0.82243	0.455000	0.32223	CAC		0.517	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		A	115828831	G	A	115828831	3	1	118	1	0	0	0	0	1	0	0	0	10395	1319	46	3	143	3	NGF	1	115828831	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	40773181	115828831	133421790	4	8039											
SPTA1	6708	broad.mit.edu	37	chr1	158641934	158641934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctcatactgacgatgaCgctcgtcccacagttccagc	9	9	8	15	3	1	2	1	2	0	0	4	3	3	2	2	0	3	3	2	0	1	2	rs372937123		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:158641934C>T	ENST00000368147.4	-	11	1583	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R468H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438																																						uc001fst.1																			1	Substitution - Missense(1)	p.R468H(2)|p.E467K(1)|p.R468C(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1402-1404)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.		C	HIS/ARG	1,3921		0,1,1960	111	107	108		1403	4.1	0.1	1		108	0,8320		0,0,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6120	TT,TC,CC		0.0,0.0255,0.0082	possibly-damaging	468/2420	158641934	1,12241	1961	4160	6121	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641934C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1403G>A	1.37:g.158641934C>T	ENSP00000357129:p.Arg468His						p.R468H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			10	1602	-	all_hematologic(112;0.0378)		468					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1403G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592462	0.86953	2.55E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61392	0.11;0.11	5.0	4.09	0.47781	.	0.265080	0.20210	N	0.096925	T	0.67832	0.2935	M	0.86178	2.8	0.43868	D	0.996474	D	0.61697	0.99	P	0.62435	0.902	T	0.72906	-0.4150	10	0.54805	T	0.06	.	12.173	0.54169	0.0:0.9174:0.0:0.0826	.	468	P02549	SPTA1_HUMAN	H	468	ENSP00000357130:R468H;ENSP00000357129:R468H	ENSP00000357129:R468H	R	-	2	0	SPTA1	156908558	1.000000	0.71417	0.108000	0.21378	0.069000	0.16628	4.128000	0.57951	1.335000	0.45486	0.655000	0.94253	CGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158641934	C	T	158641934	3	4	118	1	0	0	0	0	1	0	0	0	15115	536	19	1	6024	1	SPTA1	1	158641934	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	42813103	158641934	90608687	5	8040											
FAM5C	339479	broad.mit.edu	37	chr1	190067205	190067205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcaatttggcattaaaCgcctgcagagcagattggat	11	12	11	7	1	0	2	0	0	0	2	0	3	0	3	1	3	3	4	1	3	3	4	rs562180986		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:190067205C>T	ENST00000367462.3	-	8	2475	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	BRINP3_ENST00000534846.1_Silent_p.A646A	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	748					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGGCATTAAACGCCTGCAGAG	0.423																																						uc001gse.1																			0		p.Q747P(1)|p.A748V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(2242-2244)gcG>gcA		Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.							141	138	139					1																	190067205		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067205C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2244G>A	1.37:g.190067205C>T						FAM5C_uc010pot.1_Silent_p.A646A	p.A748A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	2476	-	Prostate(682;0.198)		748					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.2244G>A	CCDS1373.1																																																																																				0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190067205	C	T	190067205	2	4	118	1	0	0	0	0	0	0	0	1	5594	523	19	1		1	FAM5C	1	190067205	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	31425271	190067205	59183416	6	8041											
OBSCN	84033	broad.mit.edu	37	chr1	228466482	228466482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtgtcccgggccagcGcccaggtgcggtggttcaag	5	7	17	12	3	2	0	2	0	0	0	3	0	3	0	3	5	2	1	3	5	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:228466482G>A	ENST00000422127.1	+	26	6996	c.6952G>A	c.(6952-6954)Gcc>Acc	p.A2318T	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1165T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2318T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2747T|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2318	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGCCAGCGCCCAGGTGCG	0.637																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6952-6954)Gcc>Acc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							37	45	43					1																	228466482		2091	4215	6306	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466482G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6952G>A	1.37:g.228466482G>A	ENSP00000409493:p.Ala2318Thr					OBSCN_uc001hsn.3_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	p.A2318T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			25	6996	+		Prostate(94;0.0405)	2318			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6952G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625513	0.87560	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.66995	-0.24;-0.24;-0.24	3.92	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80391	0.4614	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78411	-0.2214	10	0.14656	T	0.56	.	16.1074	0.81234	0.0:0.0:1.0:0.0	.	2318;2318;2318	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	T	2318;2318;1165;17	ENSP00000284548:A2318T;ENSP00000409493:A2318T;ENSP00000352613:A1165T	ENSP00000284548:A2318T	A	+	1	0	OBSCN	226533105	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.440000	0.97547	2.044000	0.60594	0.289000	0.19496	GCC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228466482	G	A	228466482	3	1	118	1	0	0	0	0	1	0	0	0	10812	1087	38	1	7050	1	OBSCN	1	228466482	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	38399277	228466482	20784139	7	8042											
OR2M4	26245	broad.mit.edu	37	chr1	248403138	248403138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgttcagggcactacagaAggtactgaagaaaagaaagt	17	7	12	5	0	1	4	1	1	0	3	1	4	1	4	0	2	2	3	0	2	7	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:248403138A>T	ENST00000306687.1	+	1	908	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	303					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCACTACAGAAGGTACTGAAG	0.398																																						uc010pzh.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(907-909)aAg>aTg		Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.							56	53	54					1																	248403138		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403138A>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.908A>T	1.37:g.248403138A>T	ENSP00000306688:p.Lys303Met						p.K303M	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	908	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		303					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.908A>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.073506	0.36566	.	.	ENSG00000171180	ENST00000306687	T	0.43294	0.95	3.34	2.22	0.28083	.	0.000000	0.43747	D	0.000532	T	0.65133	0.2662	H	0.95004	3.61	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.56402	-0.7985	10	0.72032	D	0.01	.	3.824	0.08846	0.6909:0.0:0.1169:0.1922	.	303	Q96R27	OR2M4_HUMAN	M	303	ENSP00000306688:K303M	ENSP00000306688:K303M	K	+	2	0	OR2M4	246469761	0.001000	0.12720	0.011000	0.14972	0.005000	0.04900	0.960000	0.29253	1.499000	0.48617	0.443000	0.29094	AAG		0.398	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		T	248403138	A	T	248403138	3	4	118	1	0	0	0	0	1	0	0	0	11012	72	3	5	910	5	OR2M4	1	248403138	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	19936656	248403138	847483	8	8043											
MYT1L	23040	broad.mit.edu	37	chr2	1926184	1926184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcccagcttccatggCcatcttctccctcatggcct	4	12	5	20	0	3	0	1	0	2	0	7	0	6	0	7	2	1	1	7	2	0	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:1926184C>T	ENST00000399161.2	-	10	2104	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MYT1L_ENST00000428368.2_Missense_Mutation_p.A453T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	453					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTTCCATGGCCATCTTCTCC	0.537																																						uc002qxe.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1357-1359)Gcc>Acc		Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.							182	176	178					2																	1926184		2004	4160	6164	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926184C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1357G>A	2.37:g.1926184C>T	ENSP00000382114:p.Ala453Thr					MYT1L_uc002qxd.3_Missense_Mutation_p.A453T|MYT1L_uc010ewl.2_Non-coding_Transcript	p.A453T	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	2184	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	453					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1357G>A		.	.	.	.	.	.	.	.	.	.	C	16.67	3.186730	0.57909	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.46063	0.88;0.88	5.91	5.91	0.95273	.	0.096900	0.64402	D	0.000001	T	0.36193	0.0958	L	0.29908	0.895	0.80722	D	1	P;P	0.43938	0.728;0.822	B;B	0.38225	0.196;0.268	T	0.17077	-1.0381	10	0.52906	T	0.07	-35.969	20.2936	0.98544	0.0:1.0:0.0:0.0	.	453;453	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	453;401;453	ENSP00000382114:A453T;ENSP00000396103:A453T	ENSP00000295067:A401T	A	-	1	0	MYT1L	1905191	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	3.179000	0.50887	2.801000	0.96364	0.655000	0.94253	GCC		0.537	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1926184	C	T	1926184	3	4	118	1	0	0	0	0	1	0	0	0	10107	739	26	3	2261	3	MYT1L	2	1926184	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		1926184	241273189	9	8044											
FAM98A	25940	broad.mit.edu	37	chr2	33810356	33810356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacctcctcgtcctccGtatgaggaatgttcatagcc	8	12	8	13	2	2	2	2	2	0	0	6	3	5	3	5	1	1	2	5	1	3	3	rs34080556		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:33810356G>A	ENST00000238823.8	-	8	1184	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Silent_p.Y153Y			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	349	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCGTCCTCCGTATGAGGAAT	0.597																																						uc002rpa.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(1042-1044)taC>taT		Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.							135	114	121					2																	33810356		2203	4300	6503	SO:0001819	synonymous_variant	25940							g.chr2:33810356G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1044C>T	2.37:g.33810356G>A						FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	p.Y348Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			7	1118	-	all_hematologic(175;0.115)		349			Gly-rich.		B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	c.1044C>T	CCDS33179.1																																																																																				0.597	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		A	33810356	G	A	33810356	2	1	118	1	0	0	0	0	0	0	0	1	5656	1140	40	1		1	FAM98A	2	33810356	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	31884172	33810356	209389017	10	8045											
SNRNP200	23020	broad.mit.edu	37	chr2	96957584	96957584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttctaggcacatgtcccGgatggccctggctgtctttc	4	14	10	13	1	2	0	0	0	2	0	4	1	3	1	2	4	0	2	2	4	1	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:96957584G>A	ENST00000323853.5	-	17	2292	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R739W(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACATGTCCCGGATGGCCCTG	0.557																																						uc002svu.3																			1	Substitution - Missense(1)	p.R739W(2)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2215-2217)Cgg>Tgg		Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.							65	61	63					2																	96957584		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96957584G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2215C>T	2.37:g.96957584G>A	ENSP00000317123:p.Arg739Trp						p.R739W	NM_014014	NP_054733	O75643	U520_HUMAN			16	2347	-			739			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2215C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482628	0.84747	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.76316	-1.01	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.93031	0.6448	10	0.87932	D	0	-17.1617	12.9695	0.58505	0.0:0.0:0.7432:0.2568	.	739	O75643	U520_HUMAN	W	739;414	ENSP00000317123:R739W	ENSP00000317123:R739W	R	-	1	2	SNRNP200	96321311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.263000	0.51546	2.941000	0.99782	0.655000	0.94253	CGG		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		A	96957584	G	A	96957584	3	1	118	1	0	0	0	0	1	0	0	0	14852	1115	39	2	4311	2	SNRNP200	2	96957584	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	63147228	96957584	146241789	11	8046											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460248	107460248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctcatgtgcggcgccCatgatggcccgctgcttccc	4	8	14	15	3	1	1	1	1	0	0	2	2	2	1	3	3	2	3	3	3	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:107460248C>T	ENST00000409382.3	-	2	796	c.186G>A	c.(184-186)atG>atA	p.M62I	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.M62I|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.M62I|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	62					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCGGCGCCCATGATGGCCC	0.711																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(184-186)atG>atA		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							14	18	16					2																	107460248		2181	4279	6460	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460248C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.186G>A	2.37:g.107460248C>T	ENSP00000386942:p.Met62Ile					ST6GAL2_uc002tdr.3_Missense_Mutation_p.M62I|ST6GAL2_uc002tds.3_Missense_Mutation_p.M62I	p.M62I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	305	-			62					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.186G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785865	0.90282	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.41758	2.08;2.08;0.99	5.64	5.64	0.86602	.	0.180153	0.64402	D	0.000014	T	0.44117	0.1278	L	0.55990	1.75	0.58432	D	0.999999	P;P	0.42941	0.794;0.69	B;B	0.39805	0.31;0.164	T	0.47328	-0.9126	10	0.66056	D	0.02	-48.4448	18.6773	0.91532	0.0:1.0:0.0:0.0	.	62;62	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	I	62	ENSP00000355273:M62I;ENSP00000386942:M62I;ENSP00000387332:M62I	ENSP00000355273:M62I	M	-	3	0	ST6GAL2	106826680	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.988000	0.56951	2.654000	0.90174	0.655000	0.94253	ATG		0.711	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460248	C	T	107460248	3	4	118	1	0	0	0	0	1	0	0	0	15221	594	21	3	1510	3	ST6GAL2	2	107460248	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	10502664	107460248	135739125	12	8047											
TTN	7273	broad.mit.edu	37	chr2	179454762	179454762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctgtcaaggacgttaaCgatggctgaaccttgggcat	10	10	13	8	2	2	1	1	1	1	0	2	3	2	2	1	4	2	3	1	4	3	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179454762C>T	ENST00000591111.1	-	254	56991	c.56767G>A	c.(56767-56769)Gtt>Att	p.V18923I	TTN_ENST00000359218.5_Missense_Mutation_p.V11624I|TTN_ENST00000460472.2_Missense_Mutation_p.V11499I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V11691I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V20564I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V17996I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18923	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACGTTAACGATGGCTGAA	0.428																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53986-53988)Gtt>Att		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107	101	103					2																	179454762		1916	4133	6049	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454762C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56767G>A	2.37:g.179454762C>T	ENSP00000465570:p.Val18923Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V11691I|TTN_uc021vta.1_Missense_Mutation_p.V11624I|TTN_uc021vtb.1_Missense_Mutation_p.V11499I	p.V17996I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	54211	-			18923			Fibronectin type-III 30.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53986G>A		.	.	.	.	.	.	.	.	.	.	C	14.42	2.529795	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.99	5.99	0.97316	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68961	0.3058	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.68815	-0.5309	9	0.87932	D	0	.	20.4753	0.99175	0.0:1.0:0.0:0.0	.	11499;11624;11691;18923	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	17996;11499;11691;11624;11497	ENSP00000343764:V17996I;ENSP00000434586:V11499I;ENSP00000340554:V11691I;ENSP00000352154:V11624I	ENSP00000340554:V11691I	V	-	1	0	TTN	179163008	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.844000	0.97970	0.650000	0.86243	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179454762	C	T	179454762	3	4	118	1	0	0	0	0	1	0	0	0	16732	536	19	1	46525	1	TTN	2	179454762	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	71994514	179454762	63744611	13	8048											
TTN	7273	broad.mit.edu	37	chr2	179584862	179584862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattttcactctctctgAtgacttcacctctatctttc	6	19	4	12	0	6	2	2	2	4	0	8	2	6	2	1	1	0	1	1	1	2	6			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179584862A>G	ENST00000591111.1	-	79	22780	c.22556T>C	c.(22555-22557)aTc>aCc	p.I7519T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7836T|TTN_ENST00000342992.6_Missense_Mutation_p.I6592T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13073	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCTCTGATGACTTCACC	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19774-19776)aTc>aCc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							108	101	103					2																	179584862		1859	4092	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584862A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22556T>C	2.37:g.179584862A>G	ENSP00000465570:p.Ile7519Thr					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	p.I6592T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	20000	-			7519			Ig-like 47.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19775T>C		.	.	.	.	.	.	.	.	.	.	A	13.33	2.204153	0.38905	.	.	ENSG00000155657	ENST00000342992	T	0.68903	-0.36	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68192	0.2974	M	0.75085	2.285	0.80722	D	1	P	0.36354	0.549	B	0.34536	0.185	T	0.72792	-0.4186	9	0.87932	D	0	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	7519	Q8WZ42	TITIN_HUMAN	T	6592	ENSP00000343764:I6592T	ENSP00000343764:I6592T	I	-	2	0	TTN	179293107	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.406000	0.80017	2.266000	0.75297	0.528000	0.53228	ATC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179584862	A	G	179584862	3	3	118	1	0	0	0	0	1	0	0	0	16732	333	12	4	81150	4	TTN	2	179584862	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	130100	179584862	63614511	14	8049											
ZDBF2	57683	broad.mit.edu	37	chr2	207173138	207173138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgaaccccttcagtccGtaactaataaaattccaggg	13	10	6	12	1	2	1	2	1	0	0	4	1	4	1	4	1	2	1	4	1	5	5	rs190838042		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:207173138G>A	ENST00000374423.3	+	5	4272	c.3886G>A	c.(3886-3888)Gta>Ata	p.V1296I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1296							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V1296I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTCAGTCCGTAACTAATAA	0.383													G|||	1	0.000199681	0	0	5008	,	,		19220	0		0.001	False		,,,				2504	0					uc002vbp.2																			2	Substitution - Missense(2)	p.V1296I(3)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3886-3888)Gta>Ata		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							27	27	27					2																	207173138		1801	4066	5867	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173138G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3886G>A	2.37:g.207173138G>A	ENSP00000363545:p.Val1296Ile						p.V1296I	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	4136	+			1296					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3886G>A	CCDS46501.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.891	0.165682	0.09339	.	.	ENSG00000204186	ENST00000374423	T	0.59224	0.28	4.12	1.29	0.21616	.	.	.	.	.	T	0.43100	0.1232	L	0.50333	1.59	0.09310	N	1	P	0.35272	0.493	B	0.29598	0.104	T	0.25950	-1.0117	9	0.38643	T	0.18	.	4.2338	0.10616	0.2105:0.1906:0.5989:0.0	.	1296	Q9HCK1	ZDBF2_HUMAN	I	1296	ENSP00000363545:V1296I	ENSP00000363545:V1296I	V	+	1	0	ZDBF2	206881383	0.104000	0.21937	0.073000	0.20177	0.002000	0.02628	0.770000	0.26618	0.272000	0.22027	-0.143000	0.13931	GTA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207173138	G	A	207173138	3	1	118	1	0	0	0	0	1	0	0	0	17596	1145	40	1	3896	1	ZDBF2	2	207173138	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	27588276	207173138	36026235	15	8050											
SPEG	10290	broad.mit.edu	37	chr2	220346370	220346370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcacaggagacctaccGcagaagagaccctagaacat	15	6	8	12	1	2	4	2	0	0	4	2	6	2	4	3	1	2	1	3	1	4	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:220346370G>A	ENST00000312358.7	+	28	5665	c.5533G>A	c.(5533-5535)Gca>Aca	p.A1845T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1845	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGACCTACCGCAGAAGAGAC	0.458																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5533-5535)Gca>Aca		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							112	106	108					2																	220346370		1956	4151	6107	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220346370G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5533G>A	2.37:g.220346370G>A	ENSP00000311684:p.Ala1845Thr						p.A1845T	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	27	5533	+		Renal(207;0.0183)	1845			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5533G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401311	0.62288	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.48522	0.81	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38778	N	0.001570	T	0.66005	0.2746	M	0.87827	2.91	0.80722	D	1	P	0.46578	0.88	P	0.50490	0.642	T	0.72740	-0.4202	10	0.52906	T	0.07	.	18.4541	0.90714	0.0:0.0:1.0:0.0	.	1845	Q15772	SPEG_HUMAN	T	1845	ENSP00000311684:A1845T	ENSP00000265327:A1845T	A	+	1	0	SPEG	220054614	1.000000	0.71417	0.991000	0.47740	0.721000	0.41392	5.968000	0.70413	2.432000	0.82394	0.561000	0.74099	GCA		0.458	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220346370	G	A	220346370	3	1	118	1	0	0	0	0	1	0	0	0	15035	1087	38	1	5655	1	SPEG	2	220346370	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	13173232	220346370	22853003	16	8051											
DGKD	8527	broad.mit.edu	37	chr2	234360642	234360642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtctggttccttacccGgtggctcagtcatcagtcgc	6	12	11	12	2	4	0	3	0	1	0	6	1	5	0	2	3	1	2	2	3	2	2	rs145038453	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:234360642G>A	ENST00000264057.2	+	18	2212	c.2200G>A	c.(2200-2202)Ggt>Agt	p.G734S	DGKD_ENST00000409813.3_Missense_Mutation_p.G690S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	734					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCTTACCCGGTGGCTCAGT	0.493													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17768	0		0	False		,,,				2504	0					uc002vui.1																			0		p.G734fs*12(1)|p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2200-2202)Ggt>Agt		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)	G	SER/GLY,SER/GLY	6,4400	11.4+/-27.6	0,6,2197	128	118	122		2068,2200	4.8	0.3	2	dbSNP_134	122	0,8600		0,0,4300	yes	missense,missense	DGKD	NM_003648.2,NM_152879.2	56,56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	690/1171,734/1215	234360642	6,13000	2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234360642G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2200G>A	2.37:g.234360642G>A	ENSP00000264057:p.Gly734Ser					DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_Non-coding_Transcript	p.G734S	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	17	2212	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	734					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2200G>A	CCDS2504.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.06	3.016122	0.54468	0.001362	0.0	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80738	-1.25;-1.41	4.81	4.81	0.61882	.	0.070722	0.56097	D	0.000023	T	0.78329	0.4266	M	0.74881	2.28	0.48288	D	0.999625	P;P;P	0.44946	0.846;0.591;0.846	B;B;B	0.34536	0.133;0.034;0.185	T	0.80079	-0.1532	10	0.31617	T	0.26	.	18.7723	0.91898	0.0:0.0:1.0:0.0	.	618;690;734	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	S	734;690	ENSP00000264057:G734S;ENSP00000386455:G690S	ENSP00000264057:G734S	G	+	1	0	DGKD	234025381	1.000000	0.71417	0.256000	0.24389	0.787000	0.44495	5.625000	0.67770	2.606000	0.88127	0.637000	0.83480	GGT		0.493	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		A	234360642	G	A	234360642	3	1	118	1	0	0	0	0	1	0	0	0	4467	1116	39	2	2294	2	DGKD	2	234360642	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	14014272	234360642	8838731	17	8052											
GPR35	2859	broad.mit.edu	37	chr2	241569721	241569721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaccgctatgtggccGtgcggcacccgctgcgtgcc	3	7	15	16	6	0	0	0	0	0	0	0	1	0	1	5	3	3	3	5	3	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:241569721G>A	ENST00000319838.5	+	6	1294	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	GPR35_ENST00000407714.1_Missense_Mutation_p.V118M|GPR35_ENST00000430267.1_Missense_Mutation_p.V118M|GPR35_ENST00000438013.2_Missense_Mutation_p.V149M|GPR35_ENST00000403859.1_Missense_Mutation_p.V118M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	118					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTATGTGGCCGTGCGGCACCC	0.701																																						uc010fzi.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(445-447)Gtg>Atg		Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.							25	22	23					2																	241569721		2201	4299	6500	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569721G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.352G>A	2.37:g.241569721G>A	ENSP00000322731:p.Val118Met					GPR35_uc010fzh.2_Missense_Mutation_p.V149M|GPR35_uc021vze.1_Missense_Mutation_p.V118M|GPR35_uc002vzs.2_Missense_Mutation_p.V118M	p.V149M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	5	1317	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	118					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.445G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766445	0.49574	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.02	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.212634	0.37012	N	0.002290	D	0.85470	0.5704	M	0.87328	2.875	0.32228	N	0.574292	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.975	D	0.84184	0.0441	10	0.87932	D	0	-24.4906	3.678	0.08299	0.204:0.2288:0.5672:0.0	.	203;149;118	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	118;118;149;118;118	ENSP00000322731:V118M;ENSP00000385140:V118M;ENSP00000415890:V149M;ENSP00000384263:V118M;ENSP00000411788:V118M	ENSP00000322731:V118M	V	+	1	0	GPR35	241218394	0.000000	0.05858	0.993000	0.49108	0.346000	0.29079	0.006000	0.13152	1.020000	0.39573	0.462000	0.41574	GTG		0.701	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		A	241569721	G	A	241569721	3	1	118	1	0	0	0	0	1	0	0	0	6690	1145	40	1	354	1	GPR35	2	241569721	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	7209079	241569721	1629652	18	8053											
DTYMK	1841	broad.mit.edu	37	chr2	242617899	242617899	+	Frame_Shift_Del	DEL	G	G	-																															agtcgtgtctttcatgagctGgtggaaacaccggagcgccc																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:242617899delG	ENST00000305784.2	-	4	703	c.496delC	c.(496-498)cagfs	p.Q166fs		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	166					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCATGAGCTGGTGGAAACAC	0.582																																						uc002wbz.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(496-498)cagfs		Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.							99	99	99					2																	242617899		2203	4296	6499	SO:0001589	frameshift_variant	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242617899delG	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.496delC	2.37:g.242617899delG	ENSP00000304802:p.Gln166fs					DTYMK_uc010zpa.2_Frame_Shift_Del_p.Q142fs|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	p.Q166fs	NM_012145	NP_036277	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	681	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	166					B7ZW70|Q6FGX1|Q9BUX4	Frame_Shift_Del	DEL	ENST00000305784.2	37	c.496delC	CCDS2552.1																																																																																				0.582	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		-	242617899	G	-	242617899	7	5	118	1	0	1	0	1	0	0	0	0	4798	1357	47	0	150	0	DTYMK	2	242617899	Frame_Shift_Del	DEL	G	TCGA-12-1597-01B-01D-1495-08	1048178	242617899	581474	19	8054											
MST1R	4486	broad.mit.edu	37	chr3	49940449	49940449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccagtgaggatgccacGtagaaataggaggcctggcc	10	6	15	10	2	0	2	0	1	0	1	1	4	1	4	4	4	1	1	4	4	3	2	rs200307089		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:49940449G>A	ENST00000296474.3	-	1	621	c.594C>T	c.(592-594)taC>taT	p.Y198Y	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Silent_p.Y198Y|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGATGCCACGTAGAAATAGG	0.632																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(592-594)taC>taT		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							26	28	27					3																	49940449		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940449G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.594C>T	3.37:g.49940449G>A						MST1R_uc011bdc.2_Silent_p.Y198Y|MST1R_uc011bdd.2_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.2_Silent_p.Y198Y	p.Y198Y	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	858	-			198			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.594C>T	CCDS2807.1																																																																																				0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			A	49940449	G	A	49940449	2	1	118	1	0	0	0	0	0	0	0	1	9891	1140	40	1		1	MST1R	3	49940449	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08		49940449	148081981	20	8055											
FLNB	2317	broad.mit.edu	37	chr3	58145402	58145402	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagtgccacgtgtctgAgctggagccaggtgagcagg	8	6	19	8	1	1	2	0	2	1	0	1	5	1	5	2	5	4	2	2	5	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:58145402A>C	ENST00000295956.4	+	42	7175	c.7010A>C	c.(7009-7011)gAg>gCg	p.E2337A	FLNB_ENST00000348383.5_Missense_Mutation_p.E2296A|FLNB_ENST00000429972.2_Missense_Mutation_p.E2326A|FLNB_ENST00000358537.3_Missense_Mutation_p.E2313A|FLNB_ENST00000493452.1_Missense_Mutation_p.E2144A|FLNB_ENST00000419752.2_Missense_Mutation_p.E2157A|FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.E2368A	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2337	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACGTGTCTGAGCTGGAGCCA	0.572																																						uc003djj.2																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7009-7011)gAg>gCg		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.							36	36	36					3																	58145402		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58145402A>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7010A>C	3.37:g.58145402A>C	ENSP00000295956:p.Glu2337Ala					FLNB_uc010hne.2_Missense_Mutation_p.E2368A|FLNB_uc003djk.2_Missense_Mutation_p.E2326A|FLNB_uc010hnf.2_Missense_Mutation_p.E2313A|FLNB_uc003djl.2_Missense_Mutation_p.E2157A|FLNB_uc003djm.2_Missense_Mutation_p.E2144A	p.E2337A	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	41	7175	+			2337			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7010A>C	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663973	0.88251	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.87	5.87	0.94306	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.087583	0.85682	D	0.000000	D	0.91389	0.7283	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;P;D;D	0.76494	0.997;0.997;0.999;0.915;0.999;0.999	D;D;D;P;D;D	0.87578	0.967;0.972;0.998;0.557;0.998;0.998	D	0.91169	0.4967	10	0.46703	T	0.11	.	16.332	0.83039	1.0:0.0:0.0:0.0	.	2313;2368;2144;2157;2326;2337	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	A	2337;2368;2313;2326;2296;2144;2157	ENSP00000295956:E2337A;ENSP00000420213:E2368A;ENSP00000351339:E2313A;ENSP00000415599:E2326A;ENSP00000232447:E2296A;ENSP00000418510:E2144A;ENSP00000414532:E2157A	ENSP00000295956:E2337A	E	+	2	0	FLNB	58120442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.251000	0.74343	0.529000	0.55759	GAG		0.572	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	58145402	A	C	58145402	3	2	118	1	0	0	0	0	1	0	0	0	5934	304	11	5	7273	5	FLNB	3	58145402	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	8204953	58145402	139877028	21	8056											
OR5H1	26341	broad.mit.edu	37	chr3	97852262	97852262	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggaaagccttttccaccTgtggagcccatctcttctct	8	13	7	13	0	2	0	0	0	2	0	5	2	3	2	4	2	2	0	4	2	2	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:97852262T>A	ENST00000354565.2	+	1	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTTTCCACCTGTGGAGCCCA	0.408																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(721-723)Tgt>Agt		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							117	127	123					3																	97852262		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852262T>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.721T>A	3.37:g.97852262T>A	ENSP00000346575:p.Cys241Ser						p.C241S	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	721	+			241						Missense_Mutation	SNP	ENST00000354565.2	37	c.721T>A	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.355764	0.41700	.	.	ENSG00000231192	ENST00000354565	T	0.00369	7.74	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.01592	0.0051	H	0.97732	4.065	0.33617	D	0.604368	D	0.89917	1.0	D	0.97110	1.0	T	0.02398	-1.1165	10	0.87932	D	0	.	10.1009	0.42504	0.0:0.0:0.0:1.0	.	241	A6NKK0	OR5H1_HUMAN	S	241	ENSP00000346575:C241S	ENSP00000346575:C241S	C	+	1	0	OR5H1	99334952	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.097000	0.76967	1.481000	0.48307	0.164000	0.16699	TGT		0.408	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97852262	T	A	97852262	3	1	118	1	0	0	0	0	1	0	0	0	11159	1580	55	5	723	5	OR5H1	3	97852262	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	39706860	97852262	100170168	22	8057											
CPZ	8532	broad.mit.edu	37	chr4	8605776	8605776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcagccaccactcctaCgcccagatggtgcgtgtgct	6	9	10	16	3	1	1	1	0	0	1	2	1	2	1	4	1	4	2	4	1	1	2	rs537441827		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:8605776C>T	ENST00000360986.4	+	4	744	c.570C>T	c.(568-570)taC>taT	p.Y190Y	CPZ_ENST00000382480.2_Silent_p.Y53Y|CPZ_ENST00000315782.6_Silent_p.Y179Y|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	190					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACTCCTACGCCCAGATGG	0.706													C|||	1	0.000199681	0	0	5008	,	,		17551	0		0	False		,,,				2504	0.001					uc003glm.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(568-570)taC>taT		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.							28	23	25					4																	8605776		2166	4260	6426	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605776C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.570C>T	4.37:g.8605776C>T						CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.Y179Y|CPZ_uc003gln.3_Silent_p.Y53Y	p.Y190Y	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN			3	744	+			190					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.570C>T	CCDS33953.1																																																																																				0.706	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8605776	C	T	8605776	2	4	118	1	0	0	0	0	0	0	0	1	3839	547	19	1		1	CPZ	4	8605776	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		8605776	182548500	23	8058											
WDR1	9948	broad.mit.edu	37	chr4	10100717	10100718	+	In_Frame_Ins	INS	-	-	TGCTCC																															ggtactcatacttcaacaggINStgctccttctgcgtggtatc																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:10100717_10100718insTGCTCC	ENST00000499869.2	-	4	468_469	c.275_276insGGAGCA	c.(274-276)cac>caGGAGCAc	p.91_92insQE	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_In_Frame_Ins_p.91_92insQE			O75083	WDR1_HUMAN	WD repeat domain 1	91					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTTCAACAGGTGCTCCTTCTG	0.589																																						uc021xlv.1																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(274-276)cac>caGGAGCAc		Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10100717_10100718insTGCTCC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.270_275dupGGAGCA	4.37:g.10100718_10100723dupTGCTCC	ENSP00000427687:p.Glu91_His92insGlnGlu					WDR1_uc021xlw.1_Intron	p.91_92insQE	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	3	558_559	-			91					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	In_Frame_Ins	INS	ENST00000499869.2	37	c.275_276insGGAGCA	CCDS54740.1																																																																																				0.589	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			TGCTCC	10100718	-	TGCTCC	10100717	7	5	118	1	0	1	1	0	0	0	0	0	17269	1252	44	0	1592	0	WDR1	4	10100717	In_Frame_Ins	INS	-	TCGA-12-1597-01B-01D-1495-08	1494941	10100717	181053559	24	8059											
HCN1	348980	broad.mit.edu	37	chr5	45262443	45262443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgtggctgcggggaCggctgctgtggctgagtctg	2	11	20	8	2	2	1	0	1	2	0	2	2	2	2	0	6	2	4	0	6	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:45262443C>T	ENST00000303230.4	-	8	2310	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	751	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2251-2253)ccG>ccA		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							47	48	48					5																	45262443		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262443C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2253G>A	5.37:g.45262443C>T							p.P751P	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2278	-			751			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2253G>A	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262443	C	T	45262443	2	4	118	1	0	0	0	0	0	0	0	1	6996	523	19	1		1	HCN1	5	45262443	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		45262443	135652817	25	8060											
KCNN2	3781	broad.mit.edu	37	chr5	113740368	113740368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctatctgattgccagagtCatgcttttacatagcaaact	11	14	6	10	0	3	2	1	1	2	1	3	2	3	2	1	0	5	2	1	0	4	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:113740368C>T	ENST00000512097.3	+	4	1834	c.816C>T	c.(814-816)gtC>gtT	p.V272V	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Silent_p.V272V			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	272					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTGCCAGAGTCATGCTTTTAC	0.393																																						uc003kqo.3																			0		p.V272A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(814-816)gtC>gtT		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.							134	132	133					5																	113740368		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740368C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.816C>T	5.37:g.113740368C>T							p.V272V	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1273	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	272					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.816C>T	CCDS4114.1																																																																																				0.393	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		T	113740368	C	T	113740368	2	4	118	1	0	0	0	0	0	0	0	1	8079	813	29	3		3	KCNN2	5	113740368	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	68477925	113740368	67174892	26	8061											
MAT2B	27430	broad.mit.edu	37	chr5	162932707	162932707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgggcatggtggggcgggaGaaagagctctctatacactt	9	8	16	8	2	1	2	0	0	1	2	2	3	1	2	0	5	2	2	0	5	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:162932707G>A	ENST00000321757.6	+	1	154	c.15G>A	c.(13-15)gaG>gaA	p.E5E	MAT2B_ENST00000280969.5_Intron|MAT2B_ENST00000518095.1_Silent_p.E5E	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	5					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	TGGGGCGGGAGAAAGAGCTCT	0.706											OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lzk.3																			0		p.M4I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(13-15)gaG>gaA		Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						33	26	29					5																	162932707		2186	4292	6478	SO:0001819	synonymous_variant	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162932707G>A	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.15G>A	5.37:g.162932707G>A			OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1828	MAT2B_uc003lzj.3_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	p.E5E	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	0	123	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	5					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Silent	SNP	ENST00000321757.6	37	c.15G>A	CCDS4365.1																																																																																				0.706	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283		A	162932707	G	A	162932707	2	1	118	1	0	0	0	0	0	0	0	1	9331	933	33	3		3	MAT2B	5	162932707	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	49192339	162932707	17982553	27	8062											
SLC17A1	6568	broad.mit.edu	37	chr6	25819769	25819769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagaagtaagtcggcctcGttccaggggaggagcccatt	10	8	13	10	2	0	1	0	0	0	1	3	3	1	3	3	4	1	2	3	4	3	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:25819769G>A	ENST00000244527.4	-	5	614	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.R167*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.R167*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.R167*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	167					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCGGCCTCGTTCCAGGGGA	0.398																																						uc003nfh.4																			0		p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(499-501)Cga>Tga		Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.							78	83	82					6																	25819769		2203	4300	6503	SO:0001587	stop_gained	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25819769G>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.499C>T	6.37:g.25819769G>A	ENSP00000244527:p.Arg167*					SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R167*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	p.R167*	NM_005074	NP_005065	Q14916	NPT1_HUMAN			4	615	-			167					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Nonsense_Mutation	SNP	ENST00000244527.4	37	c.499C>T	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740603	0.49045	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	4.86	2.97	0.34412	.	0.413848	0.17806	N	0.161377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2352	0.43280	0.0:0.0:0.6412:0.3588	.	.	.	.	X	167	.	ENSP00000244527:R167X	R	-	1	2	SLC17A1	25927748	0.003000	0.15002	0.035000	0.18076	0.031000	0.12232	0.020000	0.13466	0.514000	0.28300	0.650000	0.86243	CGA		0.398	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			A	25819769	G	A	25819769	4	1	118	1	0	0	0	0	0	1	0	0	14416	1153	40	1	936	1	SLC17A1	6	25819769	Nonsense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		25819769	145295298	28	8063											
PGBD1	84547	broad.mit.edu	37	chr6	28269724	28269724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcattatcagtctgtGctccaatgctgtgggcatag	8	12	13	8	0	2	0	1	0	1	0	3	1	3	1	1	3	2	4	1	3	3	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:28269724G>A	ENST00000405948.2	+	7	2513	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	PGBD1_ENST00000259883.3_Missense_Mutation_p.C698Y	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	698						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGTCTGTGCTCCAATGCT	0.388																																						uc003nky.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2092-2094)tGc>tAc		Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.							178	173	175					6																	28269724		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269724G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2093G>A	6.37:g.28269724G>A	ENSP00000385213:p.Cys698Tyr					PGBD1_uc003nkz.3_Missense_Mutation_p.C698Y	p.C698Y	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	2513	+			698					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.2093G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890842	0.52014	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.18174	2.23;2.23	4.1	4.1	0.47936	.	0.513144	0.16161	N	0.226741	T	0.23330	0.0564	L	0.51422	1.61	0.32219	N	0.575542	D	0.62365	0.991	D	0.72075	0.976	T	0.01152	-1.1435	10	0.66056	D	0.02	-24.0307	12.0452	0.53475	0.0:0.0:1.0:0.0	.	698	Q96JS3	PGBD1_HUMAN	Y	698	ENSP00000385213:C698Y;ENSP00000259883:C698Y	ENSP00000259883:C698Y	C	+	2	0	PGBD1	28377703	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.535000	0.45685	2.286000	0.76751	0.591000	0.81541	TGC		0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			A	28269724	G	A	28269724	3	1	118	1	0	0	0	0	1	0	0	0	11780	1319	46	3	2115	3	PGBD1	6	28269724	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	2449955	28269724	142845343	29	8064											
TREML2	79865	broad.mit.edu	37	chr6	41166020	41166020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctttcacccagactcggGcaaagccaggctcacacttc	9	7	8	17	1	2	1	2	0	0	1	4	1	2	1	3	2	1	2	3	2	1	2	rs386700523		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:41166020G>A	ENST00000483722.1	-	2	388	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	68	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGACTCGGGCAAAGCCAGG	0.572																																						uc010jxm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(202-204)gCc>gTc		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							132	130	131					6																	41166020		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166020G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.203C>T	6.37:g.41166020G>A	ENSP00000418767:p.Ala68Val						p.A68V	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	382	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		68			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.203C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	7.073	0.568641	0.13560	.	.	ENSG00000112195	ENST00000483722	T	0.65732	-0.17	4.75	1.43	0.22495	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870478	0.09855	N	0.747087	T	0.25382	0.0617	N	0.12182	0.205	0.21220	N	0.999756	B	0.30146	0.27	B	0.28385	0.089	T	0.27739	-1.0065	10	0.66056	D	0.02	-2.4265	12.5187	0.56046	0.0:0.6053:0.3947:0.0	.	68	Q5T2D2	TRML2_HUMAN	V	68	ENSP00000418767:A68V	ENSP00000418767:A68V	A	-	2	0	TREML2	41273998	0.099000	0.21834	0.343000	0.25615	0.014000	0.08584	0.177000	0.16801	0.482000	0.27582	0.563000	0.77884	GCC		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166020	G	A	41166020	3	1	118	1	0	0	0	0	1	0	0	0	16470	1203	42	3	778	3	TREML2	6	41166020	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	12896296	41166020	129949047	30	8065											
AKAP9	10142	broad.mit.edu	37	chr7	91674419	91674419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaattggtcgccatgtcCttgggattctagatagatct	11	13	9	8	1	2	2	0	0	2	2	4	3	3	3	2	2	1	0	2	2	4	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:91674419C>T	ENST00000359028.2	+	22	5521	c.5296C>T	c.(5296-5298)Ctt>Ttt	p.L1766F	AKAP9_ENST00000356239.3_Missense_Mutation_p.L1754F|AKAP9_ENST00000358100.2_Missense_Mutation_p.L1766F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1766					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5260-5262)Ctt>Ttt		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							113	115	114					7																	91674419		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91674419C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5296C>T	7.37:g.91674419C>T	ENSP00000351922:p.Leu1766Phe					AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F	p.L1754F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5485	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1766					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5260C>T		.	.	.	.	.	.	.	.	.	.	C	15.30	2.793502	0.50102	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03553	3.9;3.9;3.89	4.54	4.54	0.55810	.	0.000000	0.37393	N	0.002109	T	0.15825	0.0381	M	0.71581	2.175	0.43868	D	0.996471	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	T	0.00423	-1.1748	10	0.38643	T	0.18	.	14.4235	0.67200	0.0:0.8518:0.1482:0.0	.	1766;1754;1754	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	F	1754;1766;1766;1766	ENSP00000348573:L1754F;ENSP00000351922:L1766F;ENSP00000350813:L1766F	ENSP00000348573:L1754F	L	+	1	0	AKAP9	91512355	0.898000	0.30612	1.000000	0.80357	0.996000	0.88848	1.301000	0.33447	2.520000	0.84964	0.650000	0.86243	CTT		0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91674419	C	T	91674419	3	4	118	1	0	0	0	0	1	0	0	0	459	681	24	3	5342	3	AKAP9	7	91674419	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		91674419	67464244	31	8066											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519263	113519263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttggaaaagataatcAttcctcaaaacatttccagt	16	12	4	9	0	3	1	3	0	0	1	5	2	5	2	2	1	2	0	2	1	6	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:113519263A>G	ENST00000284601.3	-	4	1952	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	628					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGATAATCATTCCTCAAAA	0.388																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1882-1884)aaT>aaC		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							82	80	81					7																	113519263		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519263A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1884T>C	7.37:g.113519263A>G							p.N628N	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	1915	-			628					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1884T>C	CCDS5759.1																																																																																				0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		G	113519263	A	G	113519263	2	3	118	1	0	0	0	0	0	0	0	1	12371	214	8	4		4	PPP1R3A	7	113519263	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	21844844	113519263	45619400	32	8067											
TRPV6	55503	broad.mit.edu	37	chr7	142573411	142573411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagctccttcaccggcGtctggtccaggatctggcga	6	9	11	15	3	4	0	2	0	2	0	6	2	6	1	4	4	1	1	4	4	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:142573411G>A	ENST00000359396.3	-	8	1177	c.932C>T	c.(931-933)aCg>aTg	p.T311M	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	311					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTTCACCGGCGTCTGGTCCAG	0.592																																						uc003wbx.2																			0		p.Q310E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(931-933)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							69	73	72					7																	142573411		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573411G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.932C>T	7.37:g.142573411G>A	ENSP00000352358:p.Thr311Met					TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	p.T311M	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			7	1161	-	Melanoma(164;0.059)		311					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.932C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694303	0.88830	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.42900	0.96	4.71	4.71	0.59529	.	0.048712	0.85682	D	0.000000	T	0.70298	0.3208	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.72625	0.978	T	0.76302	-0.3009	10	0.51188	T	0.08	-19.2089	16.8604	0.86016	0.0:0.0:1.0:0.0	.	311	Q9H1D0	TRPV6_HUMAN	M	311;143	ENSP00000352358:T311M	ENSP00000310825:T143M	T	-	2	0	TRPV6	142283533	1.000000	0.71417	0.957000	0.39632	0.939000	0.58152	7.622000	0.83099	2.458000	0.83093	0.655000	0.94253	ACG		0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		A	142573411	G	A	142573411	3	1	118	1	0	0	0	0	1	0	0	0	16597	1145	40	1	1277	1	TRPV6	7	142573411	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	29054148	142573411	16565252	33	8068											
OR2F1	26211	broad.mit.edu	37	chr7	143657660	143657660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccaatgaggtcaccatCatggtgtctagcattgttct	8	14	8	11	0	4	1	2	1	2	0	6	1	6	1	3	2	1	2	3	2	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:143657660C>T	ENST00000392899.1	+	1	634	c.597C>T	c.(595-597)atC>atT	p.I199I	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	199					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGGTCACCATCATGGTGTCTA	0.478																																						uc003wds.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(595-597)atC>atT		Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.							220	193	202					7																	143657660		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657660C>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.597C>T	7.37:g.143657660C>T							p.I199I	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			0	641	+	Melanoma(164;0.0903)		199					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.597C>T	CCDS5887.1																																																																																				0.478	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			T	143657660	C	T	143657660	2	4	118	1	0	0	0	0	0	0	0	1	10996	816	29	3		3	OR2F1	7	143657660	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	1084249	143657660	15481003	34	8069											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741054	146741054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgaattacagcatcCgattattgcccgctatgtgc	9	10	9	13	4	0	0	0	0	0	0	1	2	1	0	3	1	4	3	3	1	4	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:146741054C>T	ENST00000361727.3	+	4	974	c.458C>T	c.(457-459)cCg>cTg	p.P153L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	153	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACAGCATCCGATTATTGCC	0.423										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(457-459)cCg>cTg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							182	158	166					7																	146741054		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741054C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.458C>T	7.37:g.146741054C>T	ENSP00000354778:p.Pro153Leu	HNSCC(39;0.1)					p.P153L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	974	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	153			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.458C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	8.688	0.906809	0.17833	.	.	ENSG00000174469	ENST00000361727	D	0.98150	-4.75	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.417749	0.19905	N	0.103424	D	0.98226	0.9413	H	0.98005	4.125	0.27927	N	0.938043	B	0.27351	0.176	B	0.27608	0.081	D	0.95837	0.8863	10	0.87932	D	0	.	12.746	0.57281	0.1643:0.8357:0.0:0.0	.	153	Q9UHC6	CNTP2_HUMAN	L	153	ENSP00000354778:P153L	ENSP00000354778:P153L	P	+	2	0	CNTNAP2	146371987	0.000000	0.05858	0.118000	0.21660	0.045000	0.14185	0.828000	0.27435	2.512000	0.84698	0.462000	0.41574	CCG		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146741054	C	T	146741054	3	4	118	1	0	0	0	0	1	0	0	0	3647	652	23	2	472	2	CNTNAP2	7	146741054	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	3083394	146741054	12397609	35	8070											
DLC1	10395	broad.mit.edu	37	chr8	12946050	12946050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgttttggacatacTggtaaatttcagtttggctg	9	16	9	7	0	1	0	1	0	0	0	1	1	1	1	1	3	2	4	1	3	4	7			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:12946050T>C	ENST00000276297.4	-	16	4647	c.4238A>G	c.(4237-4239)cAg>cGg	p.Q1413R	DLC1_ENST00000520226.1_Missense_Mutation_p.Q902R|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.Q976R|DLC1_ENST00000512044.2_Missense_Mutation_p.Q1010R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1413	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGACATACTGGTAAATTTC	0.423																																						uc003wwm.2																			0		p.Y1412C(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(4237-4239)cAg>cGg		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							159	147	151					8																	12946050		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12946050T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4238A>G	8.37:g.12946050T>C	ENSP00000276297:p.Gln1413Arg					DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	p.Q1413R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			15	4682	-			1413			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.4238A>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693883	0.88735	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.9	4.9	0.64082	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.72894	2.215	0.80722	D	1	P;D;D	0.89917	0.873;1.0;0.998	P;D;D	0.78314	0.596;0.99;0.991	T	0.57481	-0.7804	10	0.56958	D	0.05	.	15.0149	0.71576	0.0:0.0:0.0:1.0	.	1413;1010;976	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	1413;976;352;1010;902	ENSP00000276297:Q1413R;ENSP00000351797:Q976R;ENSP00000422595:Q1010R;ENSP00000428028:Q902R	ENSP00000276297:Q1413R	Q	-	2	0	DLC1	12990421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.668000	0.83897	2.182000	0.69389	0.528000	0.53228	CAG		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		C	12946050	T	C	12946050	3	2	118	1	0	0	0	0	1	0	0	0	4550	1580	55	4	360	4	DLC1	8	12946050	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08		12946050	133417972	36	8071											
ADAM2	2515	broad.mit.edu	37	chr8	39607192	39607192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactgctacttacacctctAtcattgcatttgtcagtagt	9	16	6	10	0	3	0	2	0	1	0	3	0	3	0	1	0	5	4	1	0	5	7			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:39607192A>G	ENST00000265708.4	-	17	1972	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D	ADAM2_ENST00000379853.2_Silent_p.D467D|ADAM2_ENST00000521880.1_Silent_p.D560D|ADAM2_ENST00000347580.4_Silent_p.D604D	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	623	EGF-like.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACACCTCTATCATTGCATT	0.368																																						uc003xnj.3																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1867-1869)gaT>gaC		Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.							155	142	146					8																	39607192		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39607192A>G	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1869T>C	8.37:g.39607192A>G						ADAM2_uc003xnk.3_Silent_p.D604D|ADAM2_uc011lck.2_Silent_p.D560D|ADAM2_uc003xnl.3_Silent_p.D467D	p.D623D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1944	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	623			EGF-like.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1869T>C	CCDS34884.1																																																																																				0.368	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		G	39607192	A	G	39607192	2	3	118	1	0	0	0	0	0	0	0	1	241	446	16	4		4	ADAM2	8	39607192	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	26661142	39607192	106756830	37	8072											
TTPA	7274	broad.mit.edu	37	chr8	63985639	63985639	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctccacttataatagttTtttagtaactgaaaaataaa	16	15	4	6	0	1	1	0	1	1	0	2	1	1	1	1	0	1	3	1	0	9	8			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:63985639T>C	ENST00000260116.4	-	2	244	c.213A>G	c.(211-213)aaA>aaG	p.K71K	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	71					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TATAATAGTTTTTTAGTAACT	0.338																																						uc003xux.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(211-213)aaA>aaG		Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	Vitamin E(DB00163)						59	60	59					8																	63985639		2203	4300	6503	SO:0001819	synonymous_variant	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63985639T>C	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.213A>G	8.37:g.63985639T>C							p.K71K	NM_000370	NP_000361	P49638	TTPA_HUMAN			1	245	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	71					Q71V64	Silent	SNP	ENST00000260116.4	37	c.213A>G	CCDS6178.1																																																																																				0.338	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		C	63985639	T	C	63985639	2	2	118	1	0	0	0	0	0	0	0	1	16733	1838	64	4		4	TTPA	8	63985639	Silent	SNP	T	TCGA-12-1597-01B-01D-1495-08	24378447	63985639	82378383	38	8073											
RIMS2	9699	broad.mit.edu	37	chr8	105263256	105263256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttctttcccaagcaccGtatgtaaaagtgtatctatt	10	17	6	8	1	2	0	0	0	2	0	3	0	3	0	2	0	1	5	2	0	6	8	rs143698299		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:105263256G>A	ENST00000436393.2	+	27	3991	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	RIMS2_ENST00000339750.2_Silent_p.P168P|RIMS2_ENST00000406091.3_Silent_p.P1232P|RIMS2_ENST00000507740.1_Silent_p.P1046P|RIMS2_ENST00000262231.10_Silent_p.P1071P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1294					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			A|||	1	0.000199681	0	0	5008	,	,		18235	0		0.001	False		,,,				2504	0					uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3748-3750)ccG>ccA		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.		A	,	1,3745		0,1,1872	102	89	93		3696,3138	-10.7	0	8	dbSNP_134	93	1,8231		0,1,4115	no	coding-synonymous,coding-synonymous	RIMS2	NM_001100117.2,NM_014677.4	,	0,2,5987	AA,AG,GG		0.0121,0.0267,0.0167	,	1232/1350,1046/1164	105263256	2,11976	1873	4116	5989	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263256G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3750G>A	8.37:g.105263256G>A		HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.3_Silent_p.P1046P|RIMS2_uc003ylr.3_Silent_p.P1071P	p.P1250P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		26	3991	+			1294					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.3750G>A																																																																																					0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105263256	G	A	105263256	2	1	118	1	0	0	0	0	0	0	0	1	13368	1132	40	1		1	RIMS2	8	105263256	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	41277617	105263256	41100766	39	8074											
CPSF1	29894	broad.mit.edu	37	chr8	145624415	145624415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatctccaggtccggctcgGggctgttctgaaactgcaca	8	9	11	13	2	2	1	0	1	2	0	5	1	3	1	2	4	2	4	2	4	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:145624415G>A	ENST00000349769.3	-	16	1575	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	494					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCGGCTCGGGGCTGTTCTG	0.692																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1480-1482)cCc>cTc		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							13	13	13					8																	145624415		2195	4287	6482	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624415G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1481C>T	8.37:g.145624415G>A	ENSP00000339353:p.Pro494Leu						p.P494L	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		15	1556	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		494					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1481C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065166	0.55432	.	.	ENSG00000071894	ENST00000349769	T	0.41065	1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.12477	-1.0546	10	0.14656	T	0.56	-14.9985	16.5721	0.84615	0.0:0.0:1.0:0.0	.	494	Q10570	CPSF1_HUMAN	L	494	ENSP00000339353:P494L	ENSP00000339353:P494L	P	-	2	0	CPSF1	145595223	1.000000	0.71417	0.974000	0.42286	0.718000	0.41266	5.564000	0.67359	2.522000	0.85027	0.561000	0.74099	CCC		0.692	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145624415	G	A	145624415	3	1	118	1	0	0	0	0	1	0	0	0	3824	1232	43	3	2942	3	CPSF1	8	145624415	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	40361159	145624415	739607	40	8075											
PGM5	5239	broad.mit.edu	37	chr9	70999452	70999452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaaaacaaattcaaacCattcagaggtaacagagatt	19	8	6	8	0	2	3	2	0	0	3	2	4	2	3	2	1	3	1	2	1	6	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:70999452C>A	ENST00000396396.1	+	3	792	c.563C>A	c.(562-564)cCa>cAa	p.P188Q	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.P188Q	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	188					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAATTCAAACCATTCAGAGGT	0.378																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(562-564)cCa>cAa		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.							57	56	57					9																	70999452		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70999452C>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.563C>A	9.37:g.70999452C>A	ENSP00000379678:p.Pro188Gln						p.P188Q	NM_021965	NP_068800	Q15124	PGM5_HUMAN			2	792	+			188					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.563C>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	17.15	3.316067	0.60524	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.62941	-0.01;-0.01	4.36	4.36	0.52297	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.115767	0.64402	U	0.000015	T	0.66548	0.2800	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.61722	0.893	T	0.68731	-0.5331	10	0.46703	T	0.11	.	16.0032	0.80310	0.0:1.0:0.0:0.0	.	188	Q15124	PGM5_HUMAN	Q	188	ENSP00000379678:P188Q;ENSP00000379674:P188Q	ENSP00000379674:P188Q	P	+	2	0	PGM5	70189272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.108000	0.64289	0.573000	0.79308	CCA		0.378	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		A	70999452	C	A	70999452	3	1	118	1	0	0	0	0	1	0	0	0	11801	594	21	5	573	5	PGM5	9	70999452	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		70999452	70213979	41	8076											
WNK2	65268	broad.mit.edu	37	chr9	96079849	96079849	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacgtctgcccccagcGcccggccctctgtccaccac	5	6	8	22	3	2	0	0	0	2	0	3	0	3	0	7	1	3	0	7	1	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:96079849G>A	ENST00000297954.4	+	29	6675	c.6675G>A	c.(6673-6675)gcG>gcA	p.A2225A	WNK2_ENST00000427277.2_Silent_p.A1800A|WNK2_ENST00000395477.2_Silent_p.A2188A|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Silent_p.A1837A|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2225					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCCCCAGCGCCCGGCCCTC	0.647																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6673-6675)gcG>gcA		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							71	64	67					9																	96079849		2203	4300	6503	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96079849G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6675G>A	9.37:g.96079849G>A						WNK2_uc011lud.1_Silent_p.A2188A|WNK2_uc004atj.3_Silent_p.A2188A|WNK2_uc004atk.3_Silent_p.A1713A	p.A2225A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			28	6675	+			2225					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.6675G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.105|1.105	-0.659938|-0.659938	0.03454|0.03454	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251	T|.	0.61859|.	0.07|.	5.8|5.8	-7.3|-7.3	0.01446|0.01446	.|.	0.891771|.	0.09390|.	N|.	0.808668|.	T|T	0.28167|0.28167	0.0695|0.0695	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31447|0.31447	-0.9943|-0.9943	7|4	0.23891|.	T|.	0.37|.	.|.	9.7361|9.7361	0.40388|0.40388	0.5466:0.0949:0.3585:0.0|0.5466:0.0949:0.3585:0.0	.|.	.|.	.|.	.|.	T|H	1680|2184;985	ENSP00000414622:A1680T|.	ENSP00000414622:A1680T|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95119670|95119670	0.061000|0.061000	0.20836|0.20836	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	0.288000|0.288000	0.18939|0.18939	-2.221000|-2.221000	0.00728|0.00728	-0.753000|-0.753000	0.03488|0.03488	GCC|CGC		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		A	96079849	G	A	96079849	2	1	118	1	0	0	0	0	0	0	0	1	17375	1074	38	1		1	WNK2	9	96079849	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	25080397	96079849	45133582	42	8077											
C10orf72	196740	broad.mit.edu	37	chr10	50285318	50285318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgaccagcatgaagaGcagaatgctgaggatcccca	14	5	12	10	1	0	5	0	3	0	2	1	8	1	6	3	1	3	3	3	1	2	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:50285318G>A	ENST00000332853.4	-	4	603	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCATGAAGAGCAGAATGCTG	0.532																																						uc001jhf.2																			0		p.L193V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(580-582)Ctc>Ttc		Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.							142	111	121					10																	50285318		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50285318G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.580C>T	10.37:g.50285318G>A	ENSP00000331062:p.Leu194Phe						p.L194F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			3	609	-			194					B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.580C>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.195046	0.78902	.	.	ENSG00000165633	ENST00000332853	T	0.11821	2.74	5.4	5.4	0.78164	.	0.351985	0.29015	N	0.013418	T	0.32556	0.0833	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.00320	-1.1820	10	0.51188	T	0.08	-23.3941	16.2124	0.82170	0.0:0.0:1.0:0.0	.	194	Q8IW00	VSTM4_HUMAN	F	194	ENSP00000331062:L194F	ENSP00000331062:L194F	L	-	1	0	VSTM4	49955324	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.379000	0.66196	2.814000	0.96858	0.655000	0.94253	CTC		0.532	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		A	50285318	G	A	50285318	3	1	118	1	0	0	0	0	1	0	0	0	1615	971	34	3	402	3	C10orf72	10	50285318	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		50285318	85249429	43	8078											
PTEN	5728	broad.mit.edu	37	chr10	89717704	89717704	+	Frame_Shift_Del	DEL	C	C	-																															aagttcatgtactttgagttCcctcagccgttacctgtgtg																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:89717704delC	ENST00000371953.3	+	7	2086	c.729delC	c.(727-729)ttcfs	p.F243fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	243	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.R234fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTTGAGTTCCCTCAGCCGT	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		50	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.E242fs*15(10)|p.R55fs*1(5)|p.F243fs*9(2)|p.N212fs*1(2)|p.E242*(2)|p.Y27fs*1(2)|p.E242fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243S(1)|p.R234fs*9(1)|p.E242K(1)|p.G165_K342del(1)|p.F243fs*13(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(727-729)ttcfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							145	124	131					10																	89717704		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717704delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.729delC	10.37:g.89717704delC	ENSP00000361021:p.Phe243fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.F243fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1761	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	243			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.729delC	CCDS31238.1																																																																																				0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89717704	C	-	89717704	7	5	118	1	0	1	0	1	0	0	0	0	12738	854	30	0	755	0	PTEN	10	89717704	Frame_Shift_Del	DEL	C	TCGA-12-1597-01B-01D-1495-08	39432386	89717704	45817043	44	8079											
MRGPRE	116534	broad.mit.edu	37	chr11	3249597	3249597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggcccaggtgagggCgcacacacaggtggtcaggt	9	4	18	10	1	1	2	1	1	0	1	1	2	1	2	1	6	0	2	1	6	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:3249597C>T	ENST00000389832.5	-	2	739	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A144T|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGTGAGGGCGCACACACAG	0.711																																						uc021qcj.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(430-432)Gcc>Acc		Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.							10	16	14					11																	3249597		2153	4236	6389	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249597C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.433G>A	11.37:g.3249597C>T	ENSP00000374482:p.Ala145Thr					MRGPRE_uc001lxq.4_Missense_Mutation_p.A144T	p.A144T	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	430	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	144					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	c	9.431	1.085606	0.20390	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.61	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.166960	0.27645	U	0.018460	T	0.37517	0.1006	L	0.38649	1.16	0.09310	N	1	D	0.65815	0.995	P	0.60415	0.874	T	0.10613	-1.0622	9	0.27785	T	0.31	-8.7991	5.3355	0.15955	0.0:0.7044:0.0:0.2956	.	144	Q86SM8	MRGRE_HUMAN	T	145;144	.	ENSP00000374482:A144T	A	-	1	0	MRGPRE	3206173	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.451000	0.21779	0.588000	0.29660	0.484000	0.47621	GCC		0.711	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		T	3249597	C	T	3249597	3	4	118	1	0	0	0	0	1	0	0	0	9764	768	27	1	509	1	MRGPRE	11	3249597	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		3249597	131756919	45	8080											
OR8K3	219473	broad.mit.edu	37	chr11	56086025	56086025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactgtgggacccaaaatGttagtaaattttgttgtgga	13	13	10	5	0	0	0	0	0	0	0	0	2	0	2	1	2	1	3	1	2	6	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:56086025G>A	ENST00000312711.1	+	1	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACCCAAAATGTTAGTAAATT	0.353																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(241-243)atG>atA		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							104	109	108					11																	56086025		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086025G>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.243G>A	11.37:g.56086025G>A	ENSP00000323555:p.Met81Ile						p.M81I	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	243	+	Esophageal squamous(21;0.00448)		81					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.243G>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373622	0.11409	.	.	ENSG00000181689	ENST00000312711	T	0.05513	3.43	4.65	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	M	0.73319	2.225	0.21184	N	0.999767	B	0.23735	0.09	B	0.27262	0.078	T	0.13629	-1.0502	10	0.87932	D	0	.	9.9528	0.41649	0.0:0.2772:0.5801:0.1427	.	81	Q8NH51	OR8K3_HUMAN	I	81	ENSP00000323555:M81I	ENSP00000323555:M81I	M	+	3	0	OR8K3	55842601	0.446000	0.25665	0.921000	0.36526	0.001000	0.01503	1.151000	0.31651	1.289000	0.44618	-0.195000	0.12781	ATG		0.353	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		A	56086025	G	A	56086025	3	1	118	1	0	0	0	0	1	0	0	0	11244	1377	48	3	245	3	OR8K3	11	56086025	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	52836428	56086025	78920491	46	8081											
MAP4K2	5871	broad.mit.edu	37	chr11	64557670	64557670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcactcacccacagtctcGatggggaaatcaaaggtcag	12	7	10	12	1	5	0	4	0	1	0	6	2	5	1	1	3	0	1	1	3	2	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:64557670G>A	ENST00000294066.2	-	29	2329	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	MAP4K2_ENST00000377350.3_Silent_p.I738I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	746	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCACAGTCTCGATGGGGAAAT	0.617																																						uc001obh.3																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(2236-2238)atC>atT		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.							101	93	95					11																	64557670		2201	4297	6498	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64557670G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2238C>T	11.37:g.64557670G>A						MAP4K2_uc001obi.3_Silent_p.I738I	p.I746I	NM_004579	NP_004570	Q12851	M4K2_HUMAN			28	2330	-			746			CNH.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.2238C>T	CCDS8082.1																																																																																				0.617	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		A	64557670	G	A	64557670	2	1	118	1	0	0	0	0	0	0	0	1	9260	1048	37	2		2	MAP4K2	11	64557670	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	8471645	64557670	70448846	47	8082											
FAM55D	54827	broad.mit.edu	37	chr11	114453106	114453106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggcatgtgttgaggcCtcacacagtagaagccttct	10	9	11	11	0	2	2	1	1	1	1	2	2	2	2	2	2	1	3	2	2	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:114453106C>A	ENST00000375478.3	-	3	914	c.734G>T	c.(733-735)aGg>aTg	p.R245M	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	245						extracellular vesicular exosome (GO:0070062)											GTGTTGAGGCCTCACACAGTA	0.438																																						uc001ppc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(733-735)aGg>aTg		Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.							126	124	125					11																	114453106		2091	4233	6324	SO:0001583	missense	54827					extracellular region		g.chr11:114453106C>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.734G>T	11.37:g.114453106C>A	ENSP00000364627:p.Arg245Met					FAM55D_uc001ppd.3_Intron	p.R245M	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	2	915	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	245					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.734G>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736414	0.49045	.	.	ENSG00000137634	ENST00000375478	T	0.12672	2.66	5.16	0.0255	0.14146	.	0.341952	0.26704	N	0.022921	T	0.27349	0.0671	M	0.79805	2.47	0.26325	N	0.977605	D	0.55385	0.971	P	0.56343	0.796	T	0.07501	-1.0769	10	0.52906	T	0.07	.	8.4975	0.33136	0.0:0.3946:0.0:0.6054	.	245	Q6UWF7	FA55D_HUMAN	M	245	ENSP00000364627:R245M	ENSP00000364627:R245M	R	-	2	0	FAM55D	113958316	0.568000	0.26635	0.022000	0.16811	0.712000	0.41017	0.006000	0.13152	-0.181000	0.10619	-0.469000	0.05056	AGG		0.438	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		A	114453106	C	A	114453106	3	1	118	1	0	0	0	0	1	0	0	0	5587	681	24	5	916	5	FAM55D	11	114453106	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	49895436	114453106	20553410	48	8083											
KRT4	3851	broad.mit.edu	37	chr12	53207484	53207484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatctccacgtggagggggGtgagcaagctctggttgatg	8	9	16	8	1	2	2	0	2	2	0	3	3	2	3	1	5	2	3	1	5	2	1	rs201805600		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:53207484G>T	ENST00000551956.1	-	1	851	c.359C>A	c.(358-360)aCc>aAc	p.T120N	KRT4_ENST00000458244.2_Missense_Mutation_p.T100N|KRT4_ENST00000293774.4_Missense_Mutation_p.T194N			P19013	K2C4_HUMAN	keratin 4	134	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTGGAGGGGGGTGAGCAAGCT	0.587																																					Pancreas(190;284 2995 41444 45903)	uc001saz.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(580-582)aCc>aAc		Homo sapiens keratin 4 (KRT4), mRNA.		G	ASN/THR	0,4404		0,0,2202	95	105	102		359	4.9	1	12		102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KRT4	NM_002272.3	65	0,2,6500	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	120/521	53207484	2,13002	2202	4300	6502	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207484G>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.359C>A	12.37:g.53207484G>T	ENSP00000448220:p.Thr120Asn						p.T194N	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			0	581	-			120					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.581C>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423968	0.62733	0.0	2.33E-4	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75821	-0.97;-0.97;-0.97	4.88	4.88	0.63580	.	0.000000	0.47852	D	0.000206	T	0.76033	0.3931	L	0.48218	1.51	0.31260	N	0.692959	D	0.58268	0.982	P	0.56088	0.791	T	0.77122	-0.2704	10	0.49607	T	0.09	.	10.1581	0.42836	0.0:0.1247:0.6326:0.2427	.	134	P19013	K2C4_HUMAN	N	120;194;100	ENSP00000448220:T120N;ENSP00000293774:T194N;ENSP00000387904:T100N	ENSP00000293774:T194N	T	-	2	0	KRT4	51493751	0.914000	0.31030	0.999000	0.59377	0.947000	0.59692	1.851000	0.39338	2.636000	0.89361	0.585000	0.79938	ACC		0.587	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		T	53207484	G	T	53207484	3	4	118	1	0	0	0	0	1	0	0	0	8477	1261	44	5	1239	5	KRT4	12	53207484	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		53207484	80644411	49	8084											
OR6C1	390321	broad.mit.edu	37	chr12	55714593	55714593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatattagaaatttcGttcacaaccgtcagtatacc	12	14	4	11	2	3	1	2	0	1	1	5	1	3	1	3	0	2	2	3	0	6	7	rs375702387		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:55714593G>A	ENST00000379668.2	+	1	248	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAGAAATTTCGTTCACAACCG	0.383																																						uc010spi.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(208-210)tcG>tcA		Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.		A		1,4403	2.1+/-5.4	0,1,2201	58	59	59		210	-2.9	0.5	12		59	0,8600		0,0,4300	no	coding-synonymous	OR6C1	NM_001005182.1		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		70/313	55714593	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714593G>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.210G>A	12.37:g.55714593G>A							p.S70S	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			0	210	+			70					B2RNM0	Silent	SNP	ENST00000379668.2	37	c.210G>A	CCDS31818.1																																																																																				0.383	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		A	55714593	G	A	55714593	2	1	118	1	0	0	0	0	0	0	0	1	11190	1132	40	1		1	OR6C1	12	55714593	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	2507109	55714593	78137302	50	8085											
PAH	5053	broad.mit.edu	37	chr12	103246614	103246614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcgggggtatacatgggcTtggatccatgtctgatgtac	7	13	14	7	1	1	1	0	1	1	0	3	2	2	2	1	4	2	4	1	4	3	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:103246614T>A	ENST00000553106.1	-	7	1293	c.821A>T	c.(820-822)aAg>aTg	p.K274M	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.K269M	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	274			K -> E (in dbSNP:rs142934616). {ECO:0000269|PubMed:11461196}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATACATGGGCTTGGATCCATG	0.562																																						uc001tjq.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(820-822)aAg>aTg		Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						142	134	137					12																	103246614		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246614T>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.821A>T	12.37:g.103246614T>A	ENSP00000448059:p.Lys274Met						p.K274M	NM_000277	NP_000268	P00439	PH4H_HUMAN			6	1294	-			274		K -> E.			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.821A>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485114	0.44147	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99574	-6.2;-6.2	5.73	4.59	0.56863	Aromatic amino acid hydroxylase, C-terminal (3);	0.090793	0.85682	D	0.000000	D	0.98197	0.9404	L	0.38733	1.17	0.58432	D	0.999999	B	0.17038	0.02	B	0.21151	0.033	D	0.97004	0.9731	10	0.46703	T	0.11	-28.2793	11.8687	0.52509	0.0:0.0683:0.0:0.9317	.	274	P00439	PH4H_HUMAN	M	274;269	ENSP00000448059:K274M;ENSP00000303500:K269M	ENSP00000303500:K269M	K	-	2	0	PAH	101770744	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.469000	0.53093	1.000000	0.39049	-0.374000	0.07098	AAG		0.562	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			A	103246614	T	A	103246614	3	1	118	1	0	0	0	0	1	0	0	0	11394	1609	56	5	565	5	PAH	12	103246614	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	47532021	103246614	30605281	51	8086											
EXOSC8	11340	broad.mit.edu	37	chr13	37580266	37580266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagttcacagataattcAgaaagaggacttatgcattt	16	12	7	6	0	3	3	3	0	0	3	3	4	3	4	0	1	1	2	0	1	4	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr13:37580266A>C	ENST00000389704.3	+	7	624	c.359A>C	c.(358-360)cAg>cCg	p.Q120P	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CAGATAATTCAGAAAGAGGAC	0.318																																						uc001uwa.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(358-360)cAg>cCg		Homo sapiens exosome component 8 (EXOSC8), mRNA.							55	56	56					13																	37580266		2201	4300	6501	SO:0001583	missense	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37580266A>C	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.359A>C	13.37:g.37580266A>C	ENSP00000374354:p.Gln120Pro					EXOSC8_uc001uvz.2_Non-coding_Transcript	p.Q120P	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	6	624	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	120					O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	c.359A>C	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905340	0.33628	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.40476	1.03	6.17	3.6	0.41247	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.593783	0.20033	N	0.100673	T	0.20333	0.0489	N	0.04018	-0.295	0.28833	N	0.897029	B;B	0.17038	0.0;0.02	B;B	0.20767	0.0;0.031	T	0.10870	-1.0611	10	0.56958	D	0.05	-0.6383	6.8485	0.24003	0.4373:0.3641:0.0:0.1986	.	92;120	Q5JXM0;Q96B26	.;EXOS8_HUMAN	P	120;92	ENSP00000374354:Q120P	ENSP00000369137:Q92P	Q	+	2	0	EXOSC8	36478266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.227000	0.32576	1.124000	0.41980	0.533000	0.62120	CAG		0.318	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		C	37580266	A	C	37580266	3	2	118	1	0	0	0	0	1	0	0	0	5320	188	7	5	385	5	EXOSC8	13	37580266	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08		37580266	77589612	52	8087											
FANCM	57697	broad.mit.edu	37	chr14	45605251	45605251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaatgagcggacggcaaaGaacgctttttcagacgtggg	11	8	13	9	4	1	3	1	1	0	2	1	4	1	4	1	3	2	2	1	3	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:45605251G>A	ENST00000267430.5	+	1	102	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FANCM_ENST00000542564.2_Missense_Mutation_p.R6K|FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Missense_Mutation_p.R6K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	6					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGACGGCAAAGAACGCTTTTT	0.582								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(16-18)aGa>aAa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							58	58	58					14																	45605251		2172	4247	6419	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605251G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.17G>A	14.37:g.45605251G>A	ENSP00000267430:p.Arg6Lys					FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.3_Missense_Mutation_p.R6K|FKBP3_uc010tqf.2_5'Flank	p.R6K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			0	116	+			6					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.17G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341347	0.60963	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.13420	2.66;2.59;2.68	4.68	3.79	0.43588	.	0.054513	0.64402	D	0.000001	T	0.11024	0.0269	L	0.43923	1.385	0.28744	N	0.901796	P;P;B	0.38677	0.642;0.642;0.42	B;B;B	0.35353	0.201;0.201;0.09	T	0.11084	-1.0602	10	0.59425	D	0.04	.	7.2262	0.26016	0.1971:0.0:0.8029:0.0	.	6;6;6	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	K	6	ENSP00000450596:R6K;ENSP00000267430:R6K;ENSP00000442493:R6K	ENSP00000267430:R6K	R	+	2	0	FANCM	44675001	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.707000	0.54838	1.192000	0.43071	0.462000	0.41574	AGA		0.582	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45605251	G	A	45605251	3	1	118	1	0	0	0	0	1	0	0	0	5671	942	33	3	19	3	FANCM	14	45605251	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		45605251	61744289	53	8088											
NAA30	122830	broad.mit.edu	37	chr14	57858239	57858239	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcaggtgcggctgctgtcTtcgtccctgaccgccgactg	4	9	14	14	4	1	1	0	1	1	0	3	3	2	1	3	2	3	3	3	2	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:57858239T>G	ENST00000556492.1	+	2	718	c.564T>G	c.(562-564)tcT>tcG	p.S188S	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	188					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GGCTGCTGTCTTCGTCCCTGA	0.657																																						uc001xcx.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(562-564)tcT>tcG		Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.							24	30	28					14																	57858239		2199	4292	6491	SO:0001819	synonymous_variant	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858239T>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.564T>G	14.37:g.57858239T>G						NAA30_uc010trk.2_Intron|NAA30_uc010aow.3_Intron	p.S188S	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			1	718	+			188					Q0IIN2	Silent	SNP	ENST00000556492.1	37	c.564T>G	CCDS32088.1																																																																																				0.657	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		G	57858239	T	G	57858239	2	3	118	1	0	0	0	0	0	0	0	1	10122	1596	56	5		5	NAA30	14	57858239	Silent	SNP	T	TCGA-12-1597-01B-01D-1495-08	12252988	57858239	49491301	54	8089											
TSHR	7253	broad.mit.edu	37	chr14	81610003	81610003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggaccggaagatccGcctcaggcacgcatgtgcca	8	5	13	15	4	1	1	1	0	0	1	2	3	2	3	5	3	1	2	5	3	1	0	rs536364705	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:81610003G>T	ENST00000541158.2	+	11	1923	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L	TSHR_ENST00000298171.2_Missense_Mutation_p.R534L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	534					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGGAAGATCCGCCTCAGGCAC	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1600-1602)cGc>cTc		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						475	320	372					14																	81610003		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610003G>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1601G>T	14.37:g.81610003G>T	ENSP00000441235:p.Arg534Leu						p.R534L	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	1757	+			534					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1601G>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365759	0.61513	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.38077	1.16;1.16	5.37	3.52	0.40303	.	0.203543	0.52532	D	0.000079	T	0.63686	0.2532	H	0.95611	3.695	0.49130	D	0.999758	D	0.54601	0.967	P	0.56343	0.796	T	0.74337	-0.3698	10	0.62326	D	0.03	.	11.8316	0.52299	0.1443:0.0:0.8557:0.0	.	534	F5GYU5	.	L	534;181;534	ENSP00000441235:R534L;ENSP00000298171:R534L	ENSP00000298171:R534L	R	+	2	0	TSHR	80679756	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.787000	0.55439	1.267000	0.44247	0.491000	0.48974	CGC		0.562	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		T	81610003	G	T	81610003	3	4	118	1	0	0	0	0	1	0	0	0	16619	1087	38	5	1776	5	TSHR	14	81610003	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	23751764	81610003	25739537	55	8090											
IFI27	3429	broad.mit.edu	37	chr14	94582172	94582172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgggcttcactgcggCgggaatcgcctcgtcctcca	5	9	12	15	4	1	0	1	0	0	0	5	1	3	1	4	3	2	1	4	3	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:94582172C>G	ENST00000555744.1	+	4	355	c.167C>G	c.(166-168)gCg>gGg	p.A56G	IFI27_ENST00000298902.5_Missense_Mutation_p.A56G|IFI27_ENST00000557098.1_Missense_Mutation_p.A11G|IFI27_ENST00000557634.1_Missense_Mutation_p.A46G|IFI27_ENST00000448882.1_Missense_Mutation_p.A59G|IFI27_ENST00000444961.1_Missense_Mutation_p.A59G			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	56					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTCACTGCGGCGGGAATCGCC	0.642																																					GBM(128;797 1667 20895 29868 47129)	uc021sba.1																			0				breast(1)|lung(3)	4						c.(166-168)gCg>gGg		Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.							28	22	24					14																	94582172		2201	4299	6500	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582172C>G	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.167C>G	14.37:g.94582172C>G	ENSP00000451956:p.Ala56Gly					IFI27_uc001ycn.1_Non-coding_Transcript	p.A56G	NM_001130080	NP_001123552	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	3	290	+			56					Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	c.167C>G	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213442	0.39102	.	.	ENSG00000165949	ENST00000554448;ENST00000444961;ENST00000448882;ENST00000557098;ENST00000554800;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	3.52	2.63	0.31362	.	0.416911	0.25372	N	0.031147	T	0.33177	0.0854	L	0.46670	1.46	0.21675	N	0.999598	P	0.38711	0.643	B	0.43623	0.425	T	0.13548	-1.0505	10	0.51188	T	0.08	.	6.9608	0.24595	0.0:0.8741:0.0:0.1259	.	56	P40305	IFI27_HUMAN	G	56;59;59;11;56;56;56;46;56	ENSP00000451370:A56G;ENSP00000413536:A59G;ENSP00000410901:A59G;ENSP00000450753:A11G;ENSP00000451875:A56G;ENSP00000298902:A56G;ENSP00000452560:A46G;ENSP00000451956:A56G	ENSP00000298902:A56G	A	+	2	0	IFI27	93651925	0.005000	0.15991	0.008000	0.14137	0.002000	0.02628	1.565000	0.36386	1.055000	0.40461	0.563000	0.77884	GCG		0.642	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		G	94582172	C	G	94582172	3	3	118	1	0	0	0	0	1	0	0	0	7512	768	27	5	177	5	IFI27	14	94582172	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	12972169	94582172	12767368	56	8091											
MGA	23269	broad.mit.edu	37	chr15	42032290	42032290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcatccaggaaaccaCgtaccctgttgccttcaaca	10	9	8	14	1	1	0	1	0	0	0	2	1	2	1	4	2	5	4	4	2	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:42032290C>T	ENST00000570161.1	+	13	4474	c.4474C>T	c.(4474-4476)Cgt>Tgt	p.R1492C	MGA_ENST00000389936.4_Missense_Mutation_p.R1492C|MGA_ENST00000566586.1_Missense_Mutation_p.R1492C|MGA_ENST00000219905.7_Missense_Mutation_p.R1492C|MGA_ENST00000545763.1_Missense_Mutation_p.R1492C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGAAACCACGTACCCTGTT	0.532																																						uc010ucy.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4474-4476)Cgt>Tgt		Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.							115	115	115					15																	42032290		2056	4206	6262	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42032290C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4474C>T	15.37:g.42032290C>T	ENSP00000457035:p.Arg1492Cys					MGA_uc010ucz.2_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	p.R1492C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	13	4655	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1492					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4474C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332914	0.81801	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85411	-1.98;-1.95;-1.97	6.17	6.17	0.99709	.	0.703272	0.13302	N	0.398195	D	0.84848	0.5563	N	0.19112	0.55	0.41340	D	0.987292	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62184	0.642;0.899;0.854	D	0.83398	0.0021	10	0.87932	D	0	.	9.6433	0.39853	0.0:0.8857:0.0:0.1143	.	108;1492;1492	B4DVS1;F5H7K2;E7ENI0	.;.;.	C	1492	ENSP00000219905:R1492C;ENSP00000374586:R1492C;ENSP00000442467:R1492C	ENSP00000219905:R1492C	R	+	1	0	MGA	39819582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.888000	0.48594	2.941000	0.99782	0.655000	0.94253	CGT		0.532	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42032290	C	T	42032290	3	4	118	1	0	0	0	0	1	0	0	0	9540	536	19	1	4524	1	MGA	15	42032290	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		42032290	60499102	57	8092											
LRRK1	79705	broad.mit.edu	37	chr15	101592102	101592102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcctgccccagacaccCggacctccccgtgccgctgc	5	6	8	22	3	1	1	0	0	1	1	3	2	2	2	8	1	3	1	8	1	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:101592102C>T	ENST00000388948.3	+	24	3985	c.3626C>T	c.(3625-3627)cCg>cTg	p.P1209L	LRRK1_ENST00000284395.5_Missense_Mutation_p.P1206L|RP11-505E24.2_ENST00000559857.1_RNA|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACACCCGGACCTCCCC	0.617																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3625-3627)cCg>cTg		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							51	60	57					15																	101592102		2029	4188	6217	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592102C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3626C>T	15.37:g.101592102C>T	ENSP00000373600:p.Pro1209Leu					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	p.P1209L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		23	3945	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1209						Missense_Mutation	SNP	ENST00000388948.3	37	c.3626C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059540	0.76074	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73363	-0.72;-0.74	5.41	5.41	0.78517	.	0.208924	0.40640	N	0.001046	T	0.60366	0.2263	L	0.27053	0.805	0.58432	D	0.999998	P	0.45428	0.858	B	0.30943	0.122	T	0.66748	-0.5845	10	0.48119	T	0.1	.	19.2014	0.93713	0.0:1.0:0.0:0.0	.	1209	Q38SD2	LRRK1_HUMAN	L	1209;1206	ENSP00000373600:P1209L;ENSP00000284395:P1206L	ENSP00000284395:P1206L	P	+	2	0	LRRK1	99409625	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	4.814000	0.62627	2.541000	0.85698	0.655000	0.94253	CCG		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101592102	C	T	101592102	3	4	118	1	0	0	0	0	1	0	0	0	9032	652	23	2	3716	2	LRRK1	15	101592102	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	59559812	101592102	939290	58	8093											
SALL1	6299	broad.mit.edu	37	chr16	51171034	51171034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgctttaactcgtgaCgatctccttgctgtcctcca	6	13	8	14	3	1	1	0	1	1	0	5	3	3	1	3	0	4	3	3	0	1	3	rs199701845		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:51171034C>G	ENST00000251020.4	-	3	3997	c.3964G>C	c.(3964-3966)Gtc>Ctc	p.V1322L	SALL1_ENST00000440970.1_Missense_Mutation_p.V1225L|SALL1_ENST00000541611.1_Missense_Mutation_p.V145L|SALL1_ENST00000566102.1_3'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1322					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAACTCGTGACGATCTCCTTG	0.592																																					GBM(103;1352 1446 1855 4775 8890)	uc021tif.1																			0		p.S1225L(1)|p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3673-3675)Gtc>Ctc		Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.							56	48	51					16																	51171034		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171034C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3964G>C	16.37:g.51171034C>G	ENSP00000251020:p.Val1322Leu					SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.V174L	p.V1225L	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3995	-		all_cancers(37;0.0322)	1322					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3673G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107720	0.56291	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.48522	3.19;3.17;0.81	5.8	5.8	0.92144	.	0.113706	0.64402	D	0.000015	T	0.36358	0.0964	N	0.12182	0.205	0.58432	D	0.999997	B;B	0.31077	0.307;0.229	B;B	0.32864	0.154;0.144	T	0.20306	-1.0279	10	0.45353	T	0.12	.	20.0486	0.97617	0.0:1.0:0.0:0.0	.	1322;145	Q9NSC2;F5H733	SALL1_HUMAN;.	L	1322;1225;1286;145	ENSP00000251020:V1322L;ENSP00000407914:V1225L;ENSP00000442827:V145L	ENSP00000251020:V1322L	V	-	1	0	SALL1	49728535	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.800000	0.85949	2.752000	0.94435	0.643000	0.83706	GTC		0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51171034	C	G	51171034	3	3	118	1	0	0	0	0	1	0	0	0	13810	536	19	5	14	5	SALL1	16	51171034	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		51171034	39183719	59	8094											
GNAO1	2775	broad.mit.edu	37	chr16	56374784	56374784	+	Intron	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagctttttgacagcatCtgcaacaacaaatggttcac	13	11	7	10	0	2	2	1	2	1	0	2	2	2	2	0	1	5	4	0	1	4	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:56374784C>G	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.I254M	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGACAGCATCTGCAACAACA	0.527																																						uc002eit.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(760-762)atC>atG		Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.							294	289	291					16																	56374784		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56374784C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+4012C>G	16.37:g.56374784C>G						GNAO1_uc002eiu.4_Intron	p.I254M	NM_138736	NP_620073	P09471	GNAO_HUMAN			6	1659	+		all_neural(199;0.159)	254					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.762C>G	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921315	0.73213	.	.	ENSG00000087258	ENST00000262494	D	0.90676	-2.71	5.02	5.02	0.67125	.	.	.	.	.	D	0.97259	0.9104	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	9	0.87932	D	0	.	18.3413	0.90307	0.0:1.0:0.0:0.0	.	254	P09471-2	.	M	254	ENSP00000262494:I254M	ENSP00000262494:I254M	I	+	3	3	GNAO1	54932285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.863000	0.56016	2.332000	0.79248	0.561000	0.74099	ATC		0.527	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		G	56374784	C	G	56374784	1	3	118	0	1	0	0	0	0	0	0	0	6508	903	32	5		5	GNAO1	16	56374784	Intron	SNP	C	TCGA-12-1597-01B-01D-1495-08	5203750	56374784	33979969	60	8095											
PMFBP1	83449	broad.mit.edu	37	chr16	72158703	72158703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggttctcttttaaggcgGccatctcctcctggaactcc	6	12	10	13	1	2	0	0	0	2	0	6	2	4	2	4	5	1	1	4	5	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:72158703G>A	ENST00000537792.1	-	1	49	c.50C>T	c.(49-51)gCc>gTc	p.A17V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A851V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A706V|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A856V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	856						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTTAAGGCGGCCATCTCCTC	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.4																			0		p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2566-2568)gCc>gTc		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							161	147	152					16																	72158703		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72158703G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.50C>T	16.37:g.72158703G>A	ENSP00000443366:p.Ala17Val		OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.3_Missense_Mutation_p.A851V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	p.A856V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			16	2739	-		Ovarian(137;0.179)	856					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37	c.2567C>T		.	.	.	.	.	.	.	.	.	.	G	7.010	0.556590	0.13436	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.50277	0.75;2.6;2.59;2.59	5.09	0.423	0.16463	.	1.675920	0.03139	N	0.166374	T	0.37128	0.0992	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32829	0.386;0.253;0.386	B;B;B	0.31337	0.124;0.128;0.124	T	0.23868	-1.0176	10	0.28530	T	0.3	3.1154	8.0291	0.30454	0.0:0.1483:0.3945:0.4571	.	856;851;856	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	V	17;856;851;706	ENSP00000443366:A17V;ENSP00000443817:A856V;ENSP00000237353:A851V;ENSP00000347854:A706V	ENSP00000237353:A851V	A	-	2	0	PMFBP1	70716204	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.551000	0.23361	0.257000	0.21650	0.655000	0.94253	GCC		0.572	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		A	72158703	G	A	72158703	3	1	118	1	0	0	0	0	1	0	0	0	12134	1203	42	3	551	3	PMFBP1	16	72158703	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	15783919	72158703	18196050	61	8096											
GAN	8139	broad.mit.edu	37	chr16	81390535	81390535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagccgcagcaaggggAggcgatgctggccaacttca	10	4	14	13	2	1	0	1	0	0	0	1	2	1	1	3	4	5	3	3	4	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:81390535A>G	ENST00000568107.2	+	4	941	c.779A>G	c.(778-780)gAg>gGg	p.E260G		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	260					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CAGCAAGGGGAGGCGATGCTG	0.493																																					GBM(106;1239 1507 7582 9741 33976)	uc002fgo.3																			0		p.G259G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(778-780)gAg>gGg		Homo sapiens gigaxonin (GAN), mRNA.							103	105	104					16																	81390535		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81390535A>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.779A>G	16.37:g.81390535A>G	ENSP00000476795:p.Glu260Gly						p.E260G	NM_022041	NP_071324	Q9H2C0	GAN_HUMAN			3	927	+		Colorectal(91;0.153)	260						Missense_Mutation	SNP	ENST00000568107.2	37	c.779A>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763705	0.69878	.	.	ENSG00000127688	ENST00000248272	T	0.76060	-0.99	5.75	5.75	0.90469	.	0.208186	0.49305	N	0.000150	T	0.64897	0.2640	N	0.24115	0.695	0.80722	D	1	P	0.49185	0.92	B	0.44278	0.445	T	0.63278	-0.6673	10	0.21014	T	0.42	.	16.0671	0.80891	1.0:0.0:0.0:0.0	.	260	Q9H2C0	GAN_HUMAN	G	260	ENSP00000248272:E260G	ENSP00000248272:E260G	E	+	2	0	GAN	79948036	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	9.202000	0.95026	2.192000	0.70111	0.460000	0.39030	GAG		0.493	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			G	81390535	A	G	81390535	3	3	118	1	0	0	0	0	1	0	0	0	6232	304	11	4	793	4	GAN	16	81390535	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	9231832	81390535	8964218	62	8097											
FBXO31	79791	broad.mit.edu	37	chr16	87367838	87367838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggtcgggcagctggatccGatgcctcaggtcgatctcca	7	8	14	12	3	2	0	1	0	1	0	6	4	3	1	3	4	2	2	3	4	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:87367838G>C	ENST00000311635.7	-	8	1063	c.1051C>G	c.(1051-1053)Cgg>Ggg	p.R351G	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.I14M	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	351					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.R351W(1)|p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGATCCGATGCCTCAGG	0.657																																						uc002fjw.3																			2	Substitution - Missense(2)	p.R351W(1)|p.R179W(1)	large_intestine(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1051-1053)Cgg>Ggg		Homo sapiens F-box protein 31 (FBXO31), mRNA.							61	60	60					16																	87367838		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87367838G>C	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1051C>G	16.37:g.87367838G>C	ENSP00000310841:p.Arg351Gly					FBXO31_uc010vot.2_Missense_Mutation_p.R179G|FBXO31_uc002fjv.3_Missense_Mutation_p.R243G	p.R351G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	7	1095	-			351					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1051C>G	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508630	0.44660	.	.	ENSG00000103264	ENST00000311635	T	0.67865	-0.29	5.06	5.06	0.68205	.	0.050672	0.85682	D	0.000000	T	0.62134	0.2403	L	0.41236	1.265	0.50171	D	0.999855	P;P	0.39060	0.526;0.657	B;B	0.40066	0.231;0.318	T	0.61392	-0.7072	10	0.32370	T	0.25	-21.8475	18.4237	0.90602	0.0:0.0:1.0:0.0	.	351;243	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	G	351	ENSP00000310841:R351G	ENSP00000310841:R351G	R	-	1	2	FBXO31	85925339	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.649000	0.83500	2.355000	0.79922	0.561000	0.74099	CGG		0.657	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		C	87367838	G	C	87367838	3	2	118	1	0	0	0	0	1	0	0	0	5741	1057	37	5	576	5	FBXO31	16	87367838	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	5977303	87367838	2986915	63	8098											
BCL6B	255877	broad.mit.edu	37	chr17	6929925	6929925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcaaccttgccagtcatCgtacagtgcacacaggtagg	11	7	12	11	1	1	0	1	0	0	0	2	0	1	0	2	3	4	4	2	3	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:6929925C>T	ENST00000293805.5	+	6	1131	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	347					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						TGCCAGTCATCGTACAGTGCA	0.582																																						uc010clt.1																			0				skin(1)	1						c.(1039-1041)Cgt>Tgt		Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.							98	106	104					17																	6929925		2100	4227	6327	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6929925C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1039C>T	17.37:g.6929925C>T	ENSP00000293805:p.Arg347Cys					BCL6B_uc002geg.2_Missense_Mutation_p.R347C	p.R347C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			5	1101	+			347					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.1039C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799104	0.70567	.	.	ENSG00000161940	ENST00000293805	T	0.07688	3.17	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136731	0.52532	D	0.000066	T	0.11665	0.0284	L	0.59436	1.845	0.50313	D	0.999868	P	0.40638	0.725	B	0.38842	0.283	T	0.00529	-1.1687	10	0.72032	D	0.01	.	12.7736	0.57436	0.1637:0.8363:0.0:0.0	.	347	Q8N143	BCL6B_HUMAN	C	347	ENSP00000293805:R347C	ENSP00000293805:R347C	R	+	1	0	BCL6B	6870649	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.398000	0.52579	2.826000	0.97356	0.563000	0.77884	CGT		0.582	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		T	6929925	C	T	6929925	3	4	118	1	0	0	0	0	1	0	0	0	1377	884	31	2	1057	2	BCL6B	17	6929925	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		6929925	74265285	64	8099											
MAP2K3	5606	broad.mit.edu	37	chr17	21208414	21208414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggctacaatgtcaagtccGacgtctggagcctgggcatc	9	8	13	11	2	2	0	1	0	1	0	4	2	3	1	2	3	2	2	2	3	3	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21208414G>A	ENST00000342679.4	+	9	997	c.748G>A	c.(748-750)Gac>Aac	p.D250N	MAP2K3_ENST00000316920.6_Missense_Mutation_p.D221N|MAP2K3_ENST00000361818.5_Missense_Mutation_p.D221N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGTCAAGTCCGACGTCTGGAG	0.647																																						uc002gys.3																			0											c.(748-750)Gac>Aac		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.							165	139	148					17																	21208414		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208414G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.748G>A	17.37:g.21208414G>A	ENSP00000345083:p.Asp250Asn					MAP2K3_uc002gyt.3_Missense_Mutation_p.D221N|MAP2K3_uc021tsq.1_Missense_Mutation_p.D221N|MAP2K3_uc021tsr.1_Missense_Mutation_p.D221N	p.D250N	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	8	1013	+			250			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.748G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887130	0.91814	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	D;D	0.82255	-1.59;-1.59	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.93096	0.7802	H	0.99887	4.895	0.80722	D	1	D	0.54207	0.965	P	0.45538	0.484	D	0.96448	0.9332	10	0.87932	D	0	-24.7426	18.5726	0.91142	0.0:0.0:1.0:0.0	.	250	P46734	MP2K3_HUMAN	N	250;221;221;254	ENSP00000345083:D250N;ENSP00000355081:D221N	ENSP00000319139:D254N	D	+	1	0	MAP2K3	21149007	1.000000	0.71417	0.255000	0.24374	0.790000	0.44656	9.690000	0.98676	2.387000	0.81309	0.462000	0.41574	GAC		0.647	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		A	21208414	G	A	21208414	3	1	118	1	0	0	0	0	1	0	0	0	9238	1058	37	2	782	2	MAP2K3	17	21208414	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	14278489	21208414	59986796	65	8100											
LGALS9	3965	broad.mit.edu	37	chr17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaatgctgtggtccGcaacacccagatcgacaact	12	8	10	11	2	0	3	0	2	0	2	2	5	1	3	2	1	3	2	2	1	3	0	rs149003631		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:25974373G>A	ENST00000395473.2	+	10	2304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.3																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(835-837)cGc>cAc		Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92	87	88		740,836	3.4	1	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LGALS9	NM_002308.3,NM_009587.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	247/324,279/356	25974373	2,13004	2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25974373G>A	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.836G>A	17.37:g.25974373G>A	ENSP00000378856:p.Arg279His					LGALS9_uc002gzq.3_Missense_Mutation_p.R247H|LGALS9_uc002gzr.3_Missense_Mutation_p.R190H|LGALS9_uc010waa.2_Intron	p.R279H	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	9	954	+	Lung NSC(42;0.0103)		279			Galectin 2.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.836G>A	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268327	0.80469	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	T;T;T	0.14144	2.53;2.53;2.53	4.36	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;P;P	0.75484	0.986;0.878;0.894	T	0.63102	-0.6712	10	0.72032	D	0.01	.	11.312	0.49368	0.0:0.0:0.8163:0.1837	.	190;247;279	B4DJD7;Q3B8N1;O00182	.;.;LEG9_HUMAN	H	279;247;235	ENSP00000378856:R279H;ENSP00000306228:R247H;ENSP00000312259:R235H	ENSP00000306228:R247H	R	+	2	0	LGALS9	22998500	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	5.359000	0.66074	1.036000	0.39998	0.467000	0.42956	CGC		0.587	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		A	25974373	G	A	25974373	3	1	118	1	0	0	0	0	1	0	0	0	8748	1087	38	1	874	1	LGALS9	17	25974373	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	4765959	25974373	55220837	66	8101											
SSH2	85464	broad.mit.edu	37	chr17	27977712	27977712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaagtgtcattccagtacgCcaggagatccgttgcctctt	8	12	10	11	2	2	1	1	0	1	1	4	2	4	1	4	1	2	3	4	1	2	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:27977712C>A	ENST00000269033.3	-	12	1256	c.1105G>T	c.(1105-1107)Gcg>Tcg	p.A369S	SSH2_ENST00000540801.1_Missense_Mutation_p.A396S|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	369	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTACGCCAGGAGATCC	0.428																																						uc002heo.1																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1105-1107)Gcg>Tcg		Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.							227	195	206					17																	27977712		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27977712C>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1105G>T	17.37:g.27977712C>A	ENSP00000269033:p.Ala369Ser					SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	p.A369S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			11	1105	-			369			Tyrosine-protein phosphatase.		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1105G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570047	0.86542	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.34667	1.35;1.35	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052234	0.85682	D	0.000000	T	0.30885	0.0779	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.17465	0.018;0.0;0.022	B;B;B	0.36092	0.138;0.003;0.217	T	0.20974	-1.0259	10	0.45353	T	0.12	-11.5442	20.1253	0.97977	0.0:1.0:0.0:0.0	.	396;369;369	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	S	369;396;369	ENSP00000269033:A369S;ENSP00000444743:A396S	ENSP00000269033:A369S	A	-	1	0	SSH2	25001838	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GCG		0.428	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		A	27977712	C	A	27977712	3	1	118	1	0	0	0	0	1	0	0	0	15184	739	26	5	3182	5	SSH2	17	27977712	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	2003339	27977712	53217498	67	8102											
BPTF	2186	broad.mit.edu	37	chr17	65889772	65889775	+	Frame_Shift_Del	DEL	GACT	GACT	-																															tcttaccatatctactctgaGactgactatcacccaattag																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:65889772_65889775delGACT	ENST00000321892.4	+	8	2781_2784	c.2720_2723delGACT	c.(2719-2724)agactgfs	p.RL907fs	BPTF_ENST00000306378.6_Frame_Shift_Del_p.RL781fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.RL907fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.RL768fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	907	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTACTCTGAGACTGACTATCACC	0.412																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2341-2346)agactgfs		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889772_65889775delGACT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2720_2723delGACT	17.37:g.65889776_65889779delGACT	ENSP00000315454:p.Arg907fs					BPTF_uc002jge.3_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs	p.R781fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	2403_2406	+	all_cancers(12;6e-11)		907					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.2342_2345delGACT																																																																																					0.412	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		-	65889775	GACT	-	65889772	7	5	118	1	0	1	0	1	0	0	0	0	1495	942	33	0	2750	0	BPTF	17	65889772	Frame_Shift_Del	DEL	GACT	TCGA-12-1597-01B-01D-1495-08	37912060	65889772	15305438	68	8103											
RNF157	114804	broad.mit.edu	37	chr17	74157723	74157723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggatctgaagcagtgcccGgaaggctgtgaaggagaaaa	13	6	15	7	2	1	3	0	2	1	1	2	6	1	5	1	4	2	2	1	4	5	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:74157723G>A	ENST00000269391.6	-	11	1090	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	RNF157_ENST00000319945.6_Missense_Mutation_p.R320W	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	320							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGTGCCCGGAAGGCTGTG	0.507																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(958-960)Cgg>Tgg		Homo sapiens ring finger protein 157 (RNF157), mRNA.							89	90	90					17																	74157723		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74157723G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.958C>T	17.37:g.74157723G>A	ENSP00000269391:p.Arg320Trp					RNF157_uc002jra.3_Missense_Mutation_p.R320W	p.R320W	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		10	1027	-			320					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.958C>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442656	0.83993	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.79454	-1.27;-1.27	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);	0.102610	0.64402	D	0.000003	D	0.88138	0.6356	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88845	0.3315	10	0.87932	D	0	-26.5432	15.887	0.79258	0.0:0.0:0.864:0.136	.	320;320	Q96PX1-2;Q96PX1	.;RN157_HUMAN	W	320;320;282	ENSP00000269391:R320W;ENSP00000321837:R320W	ENSP00000269391:R320W	R	-	1	2	RNF157	71669318	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.344000	0.59354	2.799000	0.96334	0.650000	0.86243	CGG		0.507	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		A	74157723	G	A	74157723	3	1	118	1	0	0	0	0	1	0	0	0	13454	1115	39	2	1117	2	RNF157	17	74157723	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	8267951	74157723	7037487	69	8104											
SMAD7	4092	broad.mit.edu	37	chr18	46447857	46447857	+	Frame_Shift_Del	DEL	G	G	-																															gcacggtaaagcccgtccacGgctgctgcataaactcgtgg																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:46447857delG	ENST00000262158.2	-	4	1452	c.1166delC	c.(1165-1167)ccgfs	p.P389fs	SMAD7_ENST00000589634.1_Frame_Shift_Del_p.P388fs|SMAD7_ENST00000591805.1_Frame_Shift_Del_p.P174fs|SMAD7_ENST00000585986.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	389	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GCCCGTCCACGGCTGCTGCAT	0.582																																						uc002ldg.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(1165-1167)ccgfs		Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.							64	58	60					18																	46447857		2203	4300	6503	SO:0001589	frameshift_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46447857delG	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1166delC	18.37:g.46447857delG	ENSP00000262158:p.Pro389fs					SMAD7_uc002ldf.3_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.2_Frame_Shift_Del_p.P174fs|SMAD7_uc021ujr.1_Frame_Shift_Del_p.P388fs	p.P389fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN			3	1453	-	Colorectal(1;0.0518)		389			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Frame_Shift_Del	DEL	ENST00000262158.2	37	c.1166delC	CCDS11936.1																																																																																				0.582	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		-	46447857	G	-	46447857	7	5	118	1	0	1	0	1	0	0	0	0	14763	1116	39	0	118	0	SMAD7	18	46447857	Frame_Shift_Del	DEL	G	TCGA-12-1597-01B-01D-1495-08		46447857	31629391	70	8105											
LMAN1	3998	broad.mit.edu	37	chr18	57022568	57022568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcattgtcaaaagaatCaaaaaatattccaacaccat	19	10	2	10	0	3	1	3	0	0	1	5	1	5	1	3	0	1	0	3	0	8	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:57022568C>A	ENST00000251047.5	-	3	1171	c.454G>T	c.(454-456)Gat>Tat	p.D152Y		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	152	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCAAAAGAATCAAAAAATATT	0.353																																						uc002lhz.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(454-456)Gat>Tat		Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	Antihemophilic Factor(DB00025)						74	67	69					18																	57022568		2203	4299	6502	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57022568C>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.454G>T	18.37:g.57022568C>A	ENSP00000251047:p.Asp152Tyr					LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	p.D152Y	NM_005570	NP_005561	P49257	LMAN1_HUMAN			2	486	-		Colorectal(73;0.0946)	152			L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.454G>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518053	0.85495	.	.	ENSG00000074695	ENST00000251047	T	0.74315	-0.83	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93887	0.7176	10	0.87932	D	0	-27.3376	19.3047	0.94157	0.0:1.0:0.0:0.0	.	152;152	B4DVV0;P49257	.;LMAN1_HUMAN	Y	152	ENSP00000251047:D152Y	ENSP00000251047:D152Y	D	-	1	0	LMAN1	55173548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.267000	0.78462	2.652000	0.90054	0.655000	0.94253	GAT		0.353	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		A	57022568	C	A	57022568	3	1	118	1	0	0	0	0	1	0	0	0	8836	826	29	5	1122	5	LMAN1	18	57022568	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	10574711	57022568	21054680	71	8106											
LSR	51599	broad.mit.edu	37	chr19	35741541	35741541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagattactaccagggcCggaggattaccatcaccgga	11	7	13	10	2	1	1	1	0	0	1	1	5	1	4	4	5	3	0	4	5	3	3	rs543260729		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:35741541C>T	ENST00000361790.3	+	2	736	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LSR_ENST00000602122.1_Missense_Mutation_p.R193W|LSR_ENST00000347609.4_Missense_Mutation_p.R156W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Missense_Mutation_p.R193W|LSR_ENST00000354900.3_Missense_Mutation_p.R193W|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000427250.1_Missense_Mutation_p.R145W	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	193	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTACCAGGGCCGGAGGATTAC	0.642													C|||	1	0.000199681	0	0	5008	,	,		17171	0		0	False		,,,				2504	0.001					uc002nyl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(577-579)Cgg>Tgg		Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.							27	26	27					19																	35741541		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35741541C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.577C>T	19.37:g.35741541C>T	ENSP00000354575:p.Arg193Trp					LSR_uc010xsr.2_Missense_Mutation_p.R193W|LSR_uc002nym.3_Missense_Mutation_p.R193W|LSR_uc002nyn.3_Missense_Mutation_p.R193W|LSR_uc002nyo.3_Missense_Mutation_p.R193W|LSR_uc002nyp.3_Missense_Mutation_p.R156W	p.R193W	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	800	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		193			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.577C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160572	0.78226	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.77229	-1.01;-0.86;-0.86;-1.08;-1.06	4.74	1.07	0.20283	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	M	0.84219	2.685	0.31160	N	0.704503	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999;0.999	D	0.85847	0.1401	10	0.87932	D	0	-20.9343	11.674	0.51419	0.4699:0.5301:0.0:0.0	.	150;156;193;193;193;193	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	W	193;193;193;156;145	ENSP00000354575:R193W;ENSP00000346976:R193W;ENSP00000354034:R193W;ENSP00000262627:R156W;ENSP00000394479:R145W	ENSP00000262627:R156W	R	+	1	2	LSR	40433381	0.942000	0.31987	0.999000	0.59377	0.974000	0.67602	1.733000	0.38156	0.550000	0.28991	0.561000	0.74099	CGG		0.642	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		T	35741541	C	T	35741541	3	4	118	1	0	0	0	0	1	0	0	0	9064	643	23	2	583	2	LSR	19	35741541	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		35741541	23387442	72	8107											
ATP4A	495	broad.mit.edu	37	chr19	36046636	36046636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgatgtcctccactgtctCgctgccttccgagatgatgc	6	11	10	14	3	1	2	0	1	1	1	5	4	4	2	4	0	3	1	4	0	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:36046636C>T	ENST00000262623.3	-	13	1976	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	650					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCCACTGTCTCGCTGCCTTCC	0.622																																						uc002oal.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1948-1950)Gag>Aag		Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						144	134	138					19																	36046636		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046636C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1948G>A	19.37:g.36046636C>T	ENSP00000262623:p.Glu650Lys					ATP4A_uc010eee.1_5'UTR	p.E650K	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1977	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		650					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1948G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434668	0.83885	.	.	ENSG00000105675	ENST00000262623	T	0.81247	-1.47	4.97	4.97	0.65823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.64402	D	0.000003	T	0.81216	0.4776	N	0.21545	0.675	0.80722	D	1	D	0.56287	0.975	P	0.59948	0.866	T	0.82506	-0.0423	10	0.51188	T	0.08	.	15.7722	0.78180	0.0:1.0:0.0:0.0	.	650	P20648	ATP4A_HUMAN	K	650	ENSP00000262623:E650K	ENSP00000262623:E650K	E	-	1	0	ATP4A	40738476	1.000000	0.71417	0.989000	0.46669	0.416000	0.31233	7.651000	0.83577	2.595000	0.87683	0.462000	0.41574	GAG		0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		T	36046636	C	T	36046636	3	4	118	1	0	0	0	0	1	0	0	0	1145	893	31	2	1199	2	ATP4A	19	36046636	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	305095	36046636	23082347	73	8108											
PTGIS	5740	broad.mit.edu	37	chr20	48140704	48140704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttgctccggtgggccCgcctggccagcctggctggg	2	8	16	15	2	0	0	0	0	0	0	1	0	1	0	6	5	2	2	6	5	0	1	rs45571835		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:48140704C>T	ENST00000244043.4	-	6	775	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	249					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CCGGTGGGCCCGCCTGGCCAG	0.627													C|||	1	0.000199681	0	0	5008	,	,		20019	0		0.001	False		,,,				2504	0					uc002xut.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(745-747)cGg>cAg		Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	Phenylbutazone(DB00812)						95	87	90					20																	48140704		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48140704C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.746G>A	20.37:g.48140704C>T	ENSP00000244043:p.Arg249Gln					PTGIS_uc010zyi.2_Missense_Mutation_p.R110Q	p.R249Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	800	-			249					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.746G>A	CCDS13419.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.20	3.055136	0.55325	.	.	ENSG00000124212	ENST00000244043	T	0.01516	4.81	5.24	4.29	0.51040	.	0.498091	0.21755	N	0.069604	T	0.03871	0.0109	M	0.62088	1.915	0.26958	N	0.965882	D	0.63046	0.992	P	0.51193	0.662	T	0.40701	-0.9549	10	0.21540	T	0.41	-13.7176	9.0893	0.36601	0.0:0.9012:0.0:0.0988	rs45571835	249	Q16647	PTGIS_HUMAN	Q	249	ENSP00000244043:R249Q	ENSP00000244043:R249Q	R	-	2	0	PTGIS	47574111	0.402000	0.25311	0.780000	0.31762	0.227000	0.25037	1.881000	0.39638	2.618000	0.88619	0.655000	0.94253	CGG		0.627	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			T	48140704	C	T	48140704	3	4	118	1	0	0	0	0	1	0	0	0	12752	652	23	2	776	2	PTGIS	20	48140704	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		48140704	14884816	74	8109											
ATP9A	10079	broad.mit.edu	37	chr20	50225158	50225158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacatggtgtaaattgTggagtacctgggagagaaaa	16	8	14	3	0	0	1	0	0	0	1	0	5	0	4	1	4	2	2	1	4	6	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:50225158T>C	ENST00000338821.5	-	25	2908	c.2644A>G	c.(2644-2646)Aca>Gca	p.T882A	ATP9A_ENST00000311637.5_Missense_Mutation_p.T746A|ATP9A_ENST00000402822.1_Missense_Mutation_p.T761A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	882					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGTAAATTGTGGAGTACCTG	0.507																																						uc002xwg.1																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2644-2646)Aca>Gca		Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.							99	89	92					20																	50225158		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50225158T>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2644A>G	20.37:g.50225158T>C	ENSP00000342481:p.Thr882Ala					ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	p.T882A	NM_006045	NP_006036	O75110	ATP9A_HUMAN			24	2644	-			882					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2644A>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391025	0.82902	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.88354	-2.37;-2.37;-2.37	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.84433	2.695	0.80722	D	1	D;D	0.56968	0.974;0.978	D;P	0.67725	0.953;0.694	D	0.95243	0.8353	10	0.87932	D	0	-16.9304	14.4744	0.67537	0.0:0.0:0.0:1.0	.	761;882	O75110-2;O75110	.;ATP9A_HUMAN	A	746;882;761	ENSP00000309086:T746A;ENSP00000342481:T882A;ENSP00000385875:T761A	ENSP00000309086:T746A	T	-	1	0	ATP9A	49658565	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.953000	0.87836	1.813000	0.52934	0.533000	0.62120	ACA		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		C	50225158	T	C	50225158	3	2	118	1	0	0	0	0	1	0	0	0	1198	1696	59	4	515	4	ATP9A	20	50225158	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	2084454	50225158	12800362	75	8110											
C20orf20	55257	broad.mit.edu	37	chr20	61430922	61430922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaagcggaagcgcagccGggtcaccgacaaagtcctga	13	3	13	12	4	1	2	1	1	0	1	2	4	2	3	3	2	3	1	3	2	3	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:61430922G>A	ENST00000370487.3	+	5	613	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	181					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AAGCGCAGCCGGGTCACCGAC	0.582																																						uc002ydi.3																			0		p.R181W(2)|p.S180S(1)		endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11						c.(541-543)cGg>cAg		Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.							99	101	101					20																	61430922		2203	4300	6503	SO:0001583	missense	55257				chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		g.chr20:61430922G>A	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"chromosome 20 open reading frame 20"	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.542G>A	20.37:g.61430922G>A	ENSP00000359518:p.Arg181Gln						p.R181Q	NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN			4	613	+	Breast(26;3.65e-08)		181					A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.542G>A	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506127	0.85282	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.47	4.51	0.55191	.	0.066126	0.64402	D	0.000007	T	0.47507	0.1449	L	0.32530	0.975	0.52501	D	0.999959	D	0.64830	0.994	P	0.45377	0.478	T	0.52533	-0.8563	9	0.62326	D	0.03	-12.0939	15.5601	0.76237	0.0:0.0:0.8607:0.1393	.	181	Q9NV56	MRGBP_HUMAN	Q	181	.	ENSP00000359518:R181Q	R	+	2	0	C20orf20	60901367	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.117000	0.77129	1.274000	0.44362	-0.181000	0.13052	CGG		0.582	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		A	61430922	G	A	61430922	3	1	118	1	0	0	0	0	1	0	0	0	2103	1116	39	2	560	2	C20orf20	20	61430922	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	11205764	61430922	1594598	76	8111											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032293	46032293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatcaggctgcaccgaCtcctgcacaccttcatgctg	8	9	8	16	1	2	0	2	0	0	0	3	1	3	0	4	1	4	4	4	1	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr21:46032293C>T	ENST00000334662.2	+	1	298	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	92	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCACCGACTCCTGCACAC	0.662																																						uc002zfo.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(274-276)gaC>gaT		Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.							81	78	79					21																	46032293		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032293C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.276C>T	21.37:g.46032293C>T						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.D92D	NM_198695	NP_941968	P60410	KR108_HUMAN			0	298	+			92			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.276C>T	CCDS13713.1																																																																																				0.662	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		T	46032293	C	T	46032293	2	4	118	1	0	0	0	0	0	0	0	1	8515	564	20	3		3	KRTAP10-8	21	46032293	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		46032293	2097602	77	8112											
IL17RA	23765	broad.mit.edu	37	chr22	17589233	17589233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgatccccccaccgcTgaagcccaggaaggtctgga	9	6	11	15	1	1	3	0	3	1	0	2	5	2	5	6	3	1	1	6	3	2	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:17589233T>C	ENST00000319363.6	+	13	1257	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	375					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCCACCGCTGAAGCCCAGG	0.637																																						uc002zly.3																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1123-1125)cTg>cCg		Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.							57	60	59					22																	17589233		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589233T>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1124T>C	22.37:g.17589233T>C	ENSP00000320936:p.Leu375Pro						p.L375P	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	12	1255	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	375					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1124T>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830244	0.50845	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.08193	3.12	5.81	5.81	0.92471	.	0.126831	0.35739	N	0.003014	T	0.25082	0.0609	M	0.75447	2.3	0.54753	D	0.999984	D;D	0.89917	1.0;0.959	D;P	0.75484	0.986;0.835	T	0.02751	-1.1115	10	0.24483	T	0.36	-25.0016	10.4901	0.44746	0.0:0.0722:0.0:0.9278	.	323;375	D3YTB4;Q96F46	.;I17RA_HUMAN	P	323;375	ENSP00000320936:L375P	ENSP00000320936:L375P	L	+	2	0	IL17RA	15969233	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	3.768000	0.55295	2.221000	0.72209	0.454000	0.30748	CTG		0.637	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		C	17589233	T	C	17589233	3	2	118	1	0	0	0	0	1	0	0	0	7639	1580	55	4	1174	4	IL17RA	22	17589233	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08		17589233	33715333	78	8113											
APOBEC3A	200315	broad.mit.edu	37	chr22	39355652	39355652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggacaatggcacctcGgtcaagatggaccagcacag	11	5	12	13	2	1	1	1	0	0	1	2	3	1	3	3	4	1	2	3	4	2	0	rs193155851	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:39355652G>A	ENST00000402255.1	+	3	339	c.135G>A	c.(133-135)tcG>tcA	p.S45S	APOBEC3A_ENST00000249116.2_Silent_p.S45S			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	45					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					ATGGCACCTCGGTCAAGATGG	0.532													G|||	3	0.000599042	0	0.0014	5008	,	,		19225	0		0.001	False		,,,				2504	0.001					uc003awn.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(133-135)tcG>tcA		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.		G		0,4406		0,0,2203	96	82	87		135	0.9	0	22		87	2,8598		0,2,4298	no	coding-synonymous	APOBEC3A	NM_145699.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		45/200	39355652	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	200315				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39355652G>A	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.135G>A	22.37:g.39355652G>A						APOBEC3B_uc011aob.1_Silent_p.S27S|APOBEC3B_uc011aoc.1_Silent_p.S45S	p.S45S	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN			1	305	+	Melanoma(58;0.04)		228					A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	c.135G>A	CCDS13981.1																																																																																				0.532	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		A	39355652	G	A	39355652	2	1	118	1	0	0	0	0	0	0	0	1	789	1103	39	2		2	APOBEC3A	22	39355652	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	21766419	39355652	11948914	79	8114											
MCAT	27349	broad.mit.edu	37	chr22	43538975	43538975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgacagcggccagcgatGccacgaagatcgcgggctga	9	5	14	13	6	1	2	0	1	1	1	3	5	1	2	2	2	3	1	2	2	1	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:43538975G>A	ENST00000290429.6	-	1	425	c.380C>T	c.(379-381)gCa>gTa	p.A127V	MCAT_ENST00000464244.1_5'UTR|MCAT_ENST00000327555.5_Missense_Mutation_p.A127V	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	127					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGCCAGCGATGCCACGAAGAT	0.682																																						uc003bdl.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(379-381)gCa>gTa		Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							18	16	17					22																	43538975		2199	4298	6497	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43538975G>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.380C>T	22.37:g.43538975G>A	ENSP00000290429:p.Ala127Val					MCAT_uc003bdm.1_Missense_Mutation_p.A127V	p.A127V	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN			0	429	-		Ovarian(80;0.0694)	127					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.380C>T	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500266	0.44455	.	.	ENSG00000100294	ENST00000327555;ENST00000290429	T;T	0.33216	1.42;1.42	4.6	3.53	0.40419	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.362816	0.29791	N	0.011191	T	0.14442	0.0349	N	0.04959	-0.14	0.41971	D	0.990756	B;B	0.33266	0.164;0.404	B;B	0.30716	0.119;0.02	T	0.13361	-1.0512	10	0.23302	T	0.38	-6.5219	13.2326	0.59951	0.0897:0.0:0.9103:0.0	.	127;127	B0QY72;Q8IVS2	.;FABD_HUMAN	V	127	ENSP00000331306:A127V;ENSP00000290429:A127V	ENSP00000290429:A127V	A	-	2	0	MCAT	41868919	1.000000	0.71417	0.980000	0.43619	0.657000	0.38888	3.905000	0.56333	2.394000	0.81467	0.467000	0.42956	GCA		0.682	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		A	43538975	G	A	43538975	3	1	118	1	0	0	0	0	1	0	0	0	9372	1319	46	3	808	3	MCAT	22	43538975	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	4183323	43538975	7765591	80	8115											
CXorf59	286464	broad.mit.edu	37	chrX	36103466	36103466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaattctactcatcaacctCgccaccccaaaagttttcca	12	10	3	16	1	3	0	2	0	1	0	5	0	4	0	5	0	2	2	5	0	5	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:36103466C>T	ENST00000313548.4	+	5	638	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	151						integral component of membrane (GO:0016021)											TCATCAACCTCGCCACCCCAA	0.338																																						uc004ddk.1																			0		p.S151S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.(451-453)tCg>tTg		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							83	82	82					X																	36103466		2202	4300	6502	SO:0001583	missense	286464					integral to membrane		g.chrX:36103466C>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.452C>T	X.37:g.36103466C>T	ENSP00000324767:p.Ser151Leu						p.S151L	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	638	+			151						Missense_Mutation	SNP	ENST00000313548.4	37	c.452C>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	8.867	0.948452	0.18356	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.25	-2.54	0.06307	.	1.579760	0.03966	N	0.290871	T	0.16769	0.0403	N	0.12182	0.205	0.09310	N	1	B	0.23490	0.086	B	0.12156	0.007	T	0.06661	-1.0814	9	0.33141	T	0.24	-0.532	0.5047	0.00585	0.2557:0.2902:0.1237:0.3304	.	151	Q8N9S7	CX059_HUMAN	L	151	.	ENSP00000324767:S151L	S	+	2	0	CXorf59	36013387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.078000	0.14761	-0.850000	0.04152	-0.190000	0.12839	TCG		0.338	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		T	36103466	C	T	36103466	3	4	118	1	0	0	0	0	1	0	0	0	4115	893	31	2	466	2	CXorf59	23	36103466	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		36103466	119167094	81	8116											
FAM47C	442444	broad.mit.edu	37	chrX	37028621	37028621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagactcgggtgtccaGtctccacgcggagcctcctg	6	8	11	16	3	1	1	0	0	1	1	6	2	4	2	5	2	1	0	5	2	1	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:37028621G>T	ENST00000358047.3	+	1	2190	c.2138G>T	c.(2137-2139)aGt>aTt	p.S713I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	713										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGGTGTCCAGTCTCCACGCG	0.647																																						uc004ddl.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2137-2139)aGt>aTt		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							46	45	45					X																	37028621		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028621G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2138G>T	X.37:g.37028621G>T	ENSP00000367913:p.Ser713Ile						p.S713I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	2190	+			713					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2138G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	5.235	0.228865	0.09916	.	.	ENSG00000198173	ENST00000358047	T	0.19938	2.11	0.99	-1.98	0.07480	.	.	.	.	.	T	0.18509	0.0444	L	0.43923	1.385	0.09310	N	1	P	0.40332	0.713	B	0.44315	0.446	T	0.10706	-1.0618	9	0.37606	T	0.19	.	4.8992	0.13766	0.1982:0.2179:0.5839:0.0	.	713	Q5HY64	FA47C_HUMAN	I	713	ENSP00000367913:S713I	ENSP00000367913:S713I	S	+	2	0	FAM47C	36938542	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.869000	0.00721	-2.348000	0.00619	-2.405000	0.00223	AGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37028621	G	T	37028621	3	4	118	1	0	0	0	0	1	0	0	0	5571	1029	36	5	2140	5	FAM47C	23	37028621	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	925155	37028621	118241939	82	8117											
DGKK	139189	broad.mit.edu	37	chrX	50146548	50146548	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtattccacttgcagtCtttgcttgctctcaaagcac	9	14	6	12	0	2	0	1	0	2	0	4	0	3	0	1	0	4	5	1	0	3	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:50146548C>A	ENST00000376025.2	-	0	1185							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.D172N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACTTGCAGTCTTTGCTTGCT	0.458																																						uc010njr.2																			1	Substitution - Missense(1)	p.D172N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1126-1128)Gac>Tac		Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.							138	135	136					X																	50146548		1960	4156	6116			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50146548C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50146548C>A							p.D376Y	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			5	1170	-	Ovarian(276;0.236)		376					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.1126G>T																																																																																					0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50146548	C	A	50146548	1	1	118	0	1	0	0	0	0	0	0	0	4472	913	32	5		5	DGKK	23	50146548	RNA	SNP	C	TCGA-12-1597-01B-01D-1495-08	13117927	50146548	105124012	83	8118											
MED12	9968	broad.mit.edu	37	chrX	70342412	70342412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagcggggacaggcaGttgaagttcgctggtctttc	8	10	15	8	2	2	1	1	1	1	0	4	3	2	3	0	5	1	4	0	5	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:70342412G>C	ENST00000374080.3	+	9	1335	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	MED12_ENST00000333646.6_Missense_Mutation_p.V435L|MED12_ENST00000374102.1_Missense_Mutation_p.V435L			Q93074	MED12_HUMAN	mediator complex subunit 12	435					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGACAGGCAGTTGAAGTTCG	0.468			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1303-1305)Gtt>Ctt		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							69	67	68					X																	70342412		1963	4142	6105	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70342412G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1303G>C	X.37:g.70342412G>C	ENSP00000363193:p.Val435Leu					MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.3_Missense_Mutation_p.V435L|MED12_uc004dza.3_Missense_Mutation_p.V282L|MED12_uc022byq.1_5'Flank	p.V435L	NM_005120	NP_005111	Q93074	MED12_HUMAN			8	1502	+	Renal(35;0.156)		435					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1303G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.097731	0.76870	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.85	4.85	0.62838	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.81942	2.565	0.80722	D	1	D;P;D;D	0.67145	0.994;0.951;0.996;0.995	D;P;D;D	0.85130	0.914;0.755;0.997;0.965	T	0.69661	-0.5085	10	0.72032	D	0.01	-12.4808	17.2392	0.87008	0.0:0.0:1.0:0.0	.	435;282;435;435	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	435;435;435;435;403	ENSP00000333125:V435L;ENSP00000363215:V435L;ENSP00000363193:V435L;ENSP00000414203:V403L	ENSP00000333125:V435L	V	+	1	0	MED12	70259137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.983000	0.93477	2.251000	0.74343	0.502000	0.49764	GTT		0.468	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		C	70342412	G	C	70342412	3	2	118	1	0	0	0	0	1	0	0	0	9428	1029	36	5	1337	5	MED12	23	70342412	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	20195864	70342412	84928148	84	8119											
FGF16	8823	broad.mit.edu	37	chrX	76711875	76711875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcagagagacagtattaCgtggccctgaacaaagatgg	14	7	12	8	1	1	4	1	1	0	3	1	6	1	4	1	2	2	1	1	2	4	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:76711875C>T	ENST00000439435.1	+	2	212	c.212C>T	c.(211-213)aCg>aTg	p.T71M				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						GACAGTATTACGTGGCCCTGA	0.463																																						uc011mqp.2																			0				NS(1)|breast(1)|lung(2)	4						c.(211-213)taC>taT		Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.							96	91	93					X																	76711875		1900	4122	6022	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711875C>T	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"metacarpal 4-5 fusion"	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.212C>T	X.37:g.76711875C>T	ENSP00000399324:p.Thr71Met						p.Y71Y	NM_003868	NP_003859	O43320	FGF16_HUMAN			1	213	+			162						Silent	SNP	ENST00000439435.1	37	c.213C>T		.	.	.	.	.	.	.	.	.	.	C	2.002	-0.429243	0.04701	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.4	1.86	0.25419	.	.	.	.	.	T	0.40791	0.1131	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48603	-0.9021	3	.	.	.	.	6.9713	0.24650	0.0:0.3999:0.0:0.6001	.	.	.	.	M	71	.	.	T	+	2	0	FGF16	76598531	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	0.683000	0.25349	0.699000	0.31761	-0.340000	0.08031	ACG		0.463	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		T	76711875	C	T	76711875	3	4	118	1	0	0	0	0	1	0	0	0	5844	547	19	1	219	1	FGF16	23	76711875	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	6369463	76711875	78558685	85	8120											
ATP7A	538	broad.mit.edu	37	chrX	77264612	77264612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggtgaggggaatgaCgtgtgcctcctgcgtacata	10	10	13	8	2	0	2	0	2	0	0	1	3	1	3	2	3	4	1	2	3	4	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:77264612C>T	ENST00000341514.6	+	7	1876	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	ATP7A_ENST00000343533.5_Missense_Mutation_p.T574M|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	574	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.T574M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGGGGAATGACGTGTGCCTCC	0.388																																						uc004ecx.4																			2	Substitution - Missense(2)	p.T574M(3)	endometrium(2)	breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1720-1722)aCg>aTg		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.							188	188	188					X																	77264612		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77264612C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1721C>T	X.37:g.77264612C>T	ENSP00000345728:p.Thr574Met					ATP7A_uc004ecw.2_Missense_Mutation_p.T574M	p.T574M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			6	1881	+			574			HMA 6.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1721C>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285399	0.80803	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.87334	-2.24;-2.24	5.1	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.95825	0.8641	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.989	D	0.97432	1.0016	10	0.87932	D	0	-7.0025	17.8114	0.88617	0.0:1.0:0.0:0.0	.	574;584	Q04656;Q59HD1	ATP7A_HUMAN;.	M	574;574;584	ENSP00000343026:T574M;ENSP00000345728:T574M	ENSP00000345728:T574M	T	+	2	0	ATP7A	77151268	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	7.445000	0.80570	2.138000	0.66242	0.462000	0.41574	ACG		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		T	77264612	C	T	77264612	3	4	118	1	0	0	0	0	1	0	0	0	1190	536	19	1	1743	1	ATP7A	23	77264612	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	552737	77264612	78005948	86	8121											
TAF7L	54457	broad.mit.edu	37	chrX	100531023	100531023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccactttcatgatgagatCcttctgtctttgtgctttat	6	20	6	9	0	3	2	1	2	2	1	5	3	5	2	2	0	1	1	2	0	1	6			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:100531023C>A	ENST00000372907.3	-	11	1260	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	TAF7L_ENST00000324762.6_Missense_Mutation_p.D257Y|TAF7L_ENST00000372905.2_Missense_Mutation_p.D257Y|TAF7L_ENST00000356784.1_Missense_Mutation_p.D331Y	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	417					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATGATGAGATCCTTCTGTCTT	0.353																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1249-1251)Gat>Tat		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							194	160	172					X																	100531023		2203	4299	6502	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100531023C>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1249G>T	X.37:g.100531023C>A	ENSP00000361998:p.Asp417Tyr					TAF7L_uc004eha.3_Missense_Mutation_p.D257Y|TAF7L_uc004ehc.2_Missense_Mutation_p.D331Y	p.D417Y	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			10	1275	-			417					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1249G>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.725473	0.48833	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25085	3.69;1.82;1.82;3.69	4.6	-6.23	0.02052	.	1.220760	0.05903	N	0.630304	T	0.26122	0.0637	M	0.67700	2.07	0.09310	N	1	P;P	0.47302	0.893;0.834	B;B	0.43445	0.342;0.42	T	0.29027	-1.0025	10	0.59425	D	0.04	0.0314	6.2873	0.21041	0.0:0.3734:0.2089:0.4177	.	417;257	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	Y	417;257;257;331	ENSP00000361998:D417Y;ENSP00000361996:D257Y;ENSP00000320283:D257Y;ENSP00000349235:D331Y	ENSP00000320283:D257Y	D	-	1	0	TAF7L	100417679	0.037000	0.19845	0.000000	0.03702	0.835000	0.47333	-0.358000	0.07641	-2.196000	0.00751	0.464000	0.42555	GAT		0.353	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			A	100531023	C	A	100531023	3	1	118	1	0	0	0	0	1	0	0	0	15530	855	30	5	151	5	TAF7L	23	100531023	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	23266411	100531023	54739537	87	8122											
SRPK3	26576	broad.mit.edu	37	chrX	153050273	153050273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtgctgatcggcgccgaAtacggccccccggcagacat	8	5	14	14	5	0	2	0	1	0	1	1	4	0	2	4	4	2	2	4	4	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:153050273A>G	ENST00000370101.3	+	12	1363	c.1317A>G	c.(1315-1317)gaA>gaG	p.E439E	IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000489426.1_Silent_p.E506E|SRPK3_ENST00000370104.1_Silent_p.E438E|SRPK3_ENST00000370100.1_Silent_p.E364E|SRPK3_ENST00000393786.3_Silent_p.E405E|SRPK3_ENST00000370108.3_Silent_p.E406E	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGGCGCCGAATACGGCCCCC	0.692																																					Esophageal Squamous(167;766 3400 32156)	uc004fik.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1513-1515)gaA>gaG		Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.							36	36	36					X																	153050273		2200	4295	6495	SO:0001819	synonymous_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153050273A>G	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1317A>G	X.37:g.153050273A>G						SRPK3_uc004fim.3_Silent_p.E405E|SRPK3_uc004fil.3_Silent_p.E439E|SRPK3_uc004fin.3_Silent_p.E438E|SRPK3_uc010nul.3_Silent_p.E363E	p.E505E	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			17	3940	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		439			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Silent	SNP	ENST00000370101.3	37	c.1515A>G	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	A	0.509	-0.867255	0.02590	.	.	ENSG00000184343	ENST00000458681	.	.	.	4.52	1.57	0.23409	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37174	-0.9717	4	.	.	.	-29.3796	4.5375	0.12040	0.3019:0.2653:0.4328:0.0	.	.	.	.	V	39	.	.	I	+	1	0	SRPK3	152703467	0.218000	0.23608	0.469000	0.27204	0.007000	0.05969	-0.384000	0.07389	0.365000	0.24400	-0.693000	0.03709	ATA		0.692	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		G	153050273	A	G	153050273	2	3	118	1	0	0	0	0	0	0	0	1	15160	98	4	4		4	SRPK3	23	153050273	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	52519250	153050273	2220287	88	8123											
MTCP1	4515	broad.mit.edu	37	chrX	154294043	154294043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaatttgctggactcGtgcccttaggaaactcgtct	9	12	9	11	2	1	1	0	1	1	0	3	3	1	3	2	2	4	1	2	2	4	2	rs376244277		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:154294043G>A	ENST00000369476.3	-	3	706	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369479.1_5'Flank|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Nonsense_Mutation_p.R43*	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	43					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCTGGACTCGTGCCCTTAGG	0.458			T	TRA@	T cell prolymphocytic leukemia																																	uc004fmz.2				Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		0				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(127-129)Cga>Tga		Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.							85	80	82					X																	154294043		1988	4144	6132	SO:0001587	stop_gained	4515				cell proliferation			g.chrX:154294043G>A		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.127C>T	X.37:g.154294043G>A	ENSP00000358488:p.Arg43*					MTCP1NB_uc004fmy.3_Intron	p.R43*	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN			2	753	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		43					Q5HYP2	Nonsense_Mutation	SNP	ENST00000369476.3	37	c.127C>T	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886978	0.91814	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	.	.	.	5.66	4.79	0.61399	.	0.137757	0.34291	N	0.004085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.0364	12.3107	0.54927	0.0:0.0:0.8306:0.1694	.	.	.	.	X	43	.	ENSP00000355058:R43X	R	-	1	2	MTCP1	153947237	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.380000	0.59581	1.257000	0.44085	-0.237000	0.12165	CGA		0.458	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		A	154294043	G	A	154294043	4	1	118	1	0	0	0	0	0	1	0	0	9915	1153	40	1	204	1	MTCP1	23	154294043	Nonsense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	1243770	154294043	976517	89	8124											
EPHA10	284656	broad.mit.edu	37	chr1	38227382	38227382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccccgccggctgagcGgtccgatctcgcgcacctct	6	6	12	17	6	2	1	0	1	2	0	4	3	3	2	5	3	2	2	5	3	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:38227382G>A	ENST00000373048.4	-	3	544	c.545C>T	c.(544-546)cCg>cTg	p.P182L	EPHA10_ENST00000427468.2_Missense_Mutation_p.P182L|EPHA10_ENST00000319637.6_Missense_Mutation_p.P182L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	182	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGCTGAGCGGTCCGATCTC	0.657																																						uc009vvi.3																			0		p.P182P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(544-546)cCg>cTg		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							35	43	40					1																	38227382		2196	4299	6495	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227382G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.545C>T	1.37:g.38227382G>A	ENSP00000362139:p.Pro182Leu					EPHA10_uc001cbw.4_Missense_Mutation_p.P182L	p.P182L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	631	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	182					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.545C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071191	0.76301	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.10860	2.83;2.83;2.83	4.75	4.75	0.60458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.41294	D	0.000913	T	0.38852	0.1056	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.943;0.963	T	0.44544	-0.9321	10	0.87932	D	0	.	12.8681	0.57951	0.0:0.0:0.8261:0.1739	.	182;182	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	L	182	ENSP00000397746:P182L;ENSP00000362139:P182L;ENSP00000316395:P182L	ENSP00000316395:P182L	P	-	2	0	EPHA10	37999969	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.397000	0.52572	2.598000	0.87819	0.643000	0.83706	CCG		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38227382	G	A	38227382	3	1	119	1	0	0	0	0	1	0	0	0	5166	1116	39	2	2579	2	EPHA10	1	38227382	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		38227382	211023239	1	8125											
SLC2A1	6513	broad.mit.edu	37	chr1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccagcttacctgggCgatgaggatgccgacgacga	8	6	13	14	4	0	1	0	1	0	0	0	6	0	2	5	2	4	1	5	2	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:43396302C>T	ENST00000426263.3	-	4	689	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.A171T	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	171					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642																																						uc001cik.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(511-513)Gcc>Acc		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	Etomidate(DB00292)						20	20	20					1																	43396302		2202	4300	6502	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396302C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.511G>A	1.37:g.43396302C>T	ENSP00000416293:p.Ala171Thr						p.A171T	NM_006516	NP_006507	P11166	GTR1_HUMAN			3	1036	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	171					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.511G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377259	0.82682	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000372500	D;D;D	0.81739	-1.53;-1.53;-1.53	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90803	0.7112	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.92411	0.5937	10	0.87932	D	0	.	16.6986	0.85342	0.0:1.0:0.0:0.0	.	171	P11166	GTR1_HUMAN	T	171;171;76;171	ENSP00000416293:A171T;ENSP00000395521:A76T;ENSP00000361578:A171T	ENSP00000361578:A171T	A	-	1	0	SLC2A1	43168889	1.000000	0.71417	0.987000	0.45799	0.355000	0.29361	7.487000	0.81328	2.534000	0.85438	0.555000	0.69702	GCC		0.642	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		T	43396302	C	T	43396302	3	4	119	1	0	0	0	0	1	0	0	0	14538	768	27	1	995	1	SLC2A1	1	43396302	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	5168920	43396302	205854319	2	8126											
KLF17	128209	broad.mit.edu	37	chr1	44595024	44595024	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgactctttttccccaaGgataacgagaactcagcgcc	11	9	7	14	2	2	2	1	1	1	1	3	4	3	3	4	1	3	0	4	1	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:44595024G>A	ENST00000372299.3	+	2	139		c.e2-1		KLF17_ENST00000476802.1_Splice_Site	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17						gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTTTCCCCAAGGATAACGAGA	0.483																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.e2-1		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							118	115	116					1																	44595024		2203	4300	6503	SO:0001630	splice_region_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595024G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.82-1G>A	1.37:g.44595024G>A						KLF17_uc009vxf.1_Splice_Site	p.D28_splice	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	140	+	Acute lymphoblastic leukemia(166;0.155)		28					Q86VQ7|Q8N805	Splice_Site	SNP	ENST00000372299.3	37	c.82_splice	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253051	0.39797	.	.	ENSG00000171872	ENST00000372299	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0216	0.58791	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLF17	44367611	0.999000	0.42202	0.928000	0.36995	0.059000	0.15707	3.127000	0.50484	2.788000	0.95919	0.557000	0.71058	.		0.483	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	Intron	A	44595024	G	A	44595024	5	1	119	1	0	0	0	0	0	0	1	0	8345	1014	35	3	87	3	KLF17	1	44595024	Splice_Site	SNP	G	TCGA-12-3649-01A-01D-1495-08	1198722	44595024	204655597	3	8127											
EPHX4	253152	broad.mit.edu	37	chr1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaacttttgtggagcctcgGcaaggggccggcgcagacct	8	7	14	12	3	0	1	0	0	0	1	1	2	0	2	3	5	2	2	3	5	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:92495767G>A	ENST00000370383.4	+	1	229	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	44						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(130-132)gGc>gAc		Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.							20	17	18					1																	92495767		2202	4299	6501	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92495767G>A	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.131G>A	1.37:g.92495767G>A	ENSP00000359410:p.Gly44Asp						p.G44D	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			0	235	+			44					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.131G>A	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703280	0.30232	.	.	ENSG00000172031	ENST00000370383	T	0.59364	0.27	3.63	3.63	0.41609	.	0.523471	0.20597	N	0.089235	T	0.31389	0.0795	L	0.44542	1.39	0.34346	D	0.689347	B	0.16396	0.017	B	0.21360	0.034	T	0.20207	-1.0282	10	0.35671	T	0.21	.	10.4819	0.44698	0.0:0.0:0.8054:0.1946	.	44	Q8IUS5	EPHX4_HUMAN	D	44	ENSP00000359410:G44D	ENSP00000359410:G44D	G	+	2	0	EPHX4	92268355	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	4.534000	0.60622	1.826000	0.53198	0.313000	0.20887	GGC		0.677	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		A	92495767	G	A	92495767	3	1	119	1	0	0	0	0	1	0	0	0	5182	1203	42	3	133	3	EPHX4	1	92495767	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	47900743	92495767	156754854	4	8128											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cTa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>T	1.37:g.115256529T>A	ENSP00000358548:p.Gln61Leu	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61L	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>T	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844732	0.91197	.	.	ENSG00000213281	ENST00000369535	D	0.83992	-1.79	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.92446	0.7602	H	0.96748	3.875	0.80722	D	1	D	0.55800	0.973	P	0.61533	0.89	D	0.94664	0.7851	10	0.72032	D	0.01	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	61	P01111	RASN_HUMAN	L	61	ENSP00000358548:Q61L	ENSP00000358548:Q61L	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		A	115256529	T	A	115256529	3	1	119	1	0	0	0	0	1	0	0	0	10640	1812	63	5	399	5	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	22760762	115256529	133994092	5	8129											
NBPF10	100132406	broad.mit.edu	37	chr1	145367751	145367751	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaaaaaaagaaggggAagaagatcaaagaaggaaag	24	1	15	1	0	1	4	1	0	0	4	1	7	1	7	0	5	0	0	0	5	10	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:145367751A>T	ENST00000342960.5	+	83	10382	c.10347A>T	c.(10345-10347)ggA>ggT	p.G3449G	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aaagaaggggaagaagatcaa	0.413																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10345-10347)ggA>ggT		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367751A>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10347A>T	1.37:g.145367751A>T						NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.G3449G	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10382	+	all_hematologic(923;0.032)		3449					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10347A>T	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		T	145367751	A	T	145367751	2	4	119	1	0	0	0	0	0	0	0	1	10193	233	9	5		5	NBPF10	1	145367751	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	30111222	145367751	103882870	6	8130											
OR6K2	81448	broad.mit.edu	37	chr1	158669760	158669760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccagctgaatgaataCgtagaattacagccacaata	15	8	8	10	1	0	3	0	2	0	1	1	3	1	3	3	1	4	2	3	1	8	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:158669760C>T	ENST00000359610.2	-	1	726	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAATGAATACGTAGAATTAC	0.453																																						uc001fsu.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(682-684)cGt>cAt		Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.							121	103	109					1																	158669760		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669760C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.683G>A	1.37:g.158669760C>T	ENSP00000352626:p.Arg228His						p.R228H	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			0	683	-	all_hematologic(112;0.0378)		228					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.683G>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588434	0.13812	.	.	ENSG00000196171	ENST00000359610	T	0.00262	8.4	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.169771	0.28317	N	0.015800	T	0.00073	0.0002	M	0.66506	2.035	0.09310	N	1	B	0.26602	0.154	B	0.27715	0.082	T	0.38564	-0.9655	10	0.59425	D	0.04	-4.2944	6.6808	0.23119	0.0:0.7333:0.0:0.2667	.	228	Q8NGY2	OR6K2_HUMAN	H	228	ENSP00000352626:R228H	ENSP00000352626:R228H	R	-	2	0	OR6K2	156936384	0.000000	0.05858	0.023000	0.16930	0.306000	0.27790	-0.223000	0.09177	1.283000	0.44513	0.655000	0.94253	CGT		0.453	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		T	158669760	C	T	158669760	3	4	119	1	0	0	0	0	1	0	0	0	11202	536	19	1	295	1	OR6K2	1	158669760	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	13302009	158669760	90580861	7	8131											
GPR161	23432	broad.mit.edu	37	chr1	168066138	168066138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttcttcctcccggtcCtctgagcatcctcctccacg	4	12	8	17	2	2	1	0	1	2	0	8	2	8	2	6	2	1	2	6	2	0	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:168066138C>G	ENST00000367838.1	-	5	1020	c.707G>C	c.(706-708)aGg>aCg	p.R236T	GPR161_ENST00000271357.5_Missense_Mutation_p.R236T|GPR161_ENST00000546300.1_Missense_Mutation_p.R122T|GPR161_ENST00000361697.2_Missense_Mutation_p.R236T|GPR161_ENST00000367836.1_Missense_Mutation_p.R104T|GPR161_ENST00000367835.1_Missense_Mutation_p.R236T|GPR161_ENST00000539777.1_Missense_Mutation_p.R158T|GPR161_ENST00000537209.1_Missense_Mutation_p.R256T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	236					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCTCCCGGTCCTCTGAGCATC	0.597																																						uc010pln.2																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(766-768)aGg>aCg		Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.							96	98	97					1																	168066138		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066138C>G	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.707G>C	1.37:g.168066138C>G	ENSP00000356812:p.Arg236Thr					GPR161_uc001gfb.3_Missense_Mutation_p.R104T|GPR161_uc001gfc.3_Missense_Mutation_p.R236T|GPR161_uc010pll.2_Missense_Mutation_p.R146T|GPR161_uc010plm.2_Missense_Mutation_p.R122T|GPR161_uc009wvo.3_Missense_Mutation_p.R253T|GPR161_uc001gfd.3_Missense_Mutation_p.R236T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	p.R256T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			3	1301	-	all_hematologic(923;0.215)		236					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.767G>C	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949387	0.34377	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.82619	-0.19;-0.19;-1.63;-0.19;-1.17;-1.14;-0.1;-0.19	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.337449	0.38548	N	0.001654	T	0.68100	0.2964	L	0.55834	1.745	0.37955	D	0.932782	B;B;P;B;B;B	0.38504	0.178;0.183;0.634;0.009;0.152;0.081	B;B;B;B;B;B	0.35971	0.069;0.122;0.215;0.021;0.08;0.084	T	0.69165	-0.5217	9	0.26408	T	0.33	-10.2951	12.1459	0.54024	0.0:0.9204:0.0:0.0796	.	256;122;158;256;236;236	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	T	236;236;104;236;122;158;256;236	ENSP00000356812:R236T;ENSP00000271357:R236T;ENSP00000356810:R104T;ENSP00000356809:R236T;ENSP00000444348:R122T;ENSP00000437576:R158T;ENSP00000441039:R256T;ENSP00000355194:R236T	ENSP00000271357:R236T	R	-	2	0	GPR161	166332762	0.999000	0.42202	0.042000	0.18584	0.874000	0.50279	2.242000	0.43106	2.584000	0.87258	0.561000	0.74099	AGG		0.597	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		G	168066138	C	G	168066138	3	3	119	1	0	0	0	0	1	0	0	0	6665	681	24	5	898	5	GPR161	1	168066138	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	9396378	168066138	81184483	8	8132											
CR2	1380	broad.mit.edu	37	chr1	207644110	207644110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctcctaacatcctCaatgggcaaaaggaagatag	14	6	9	12	0	1	1	1	0	0	1	3	2	3	2	4	3	1	1	4	3	6	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:207644110C>A	ENST00000367058.3	+	7	1440	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	CR2_ENST00000458541.2_Silent_p.L417L|CR2_ENST00000367057.3_Silent_p.L417L|CR2_ENST00000367059.3_Silent_p.L417L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	417	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAACATCCTCAATGGGCAAA	0.418																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1249-1251)ctC>ctA		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							86	84	85					1																	207644110		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644110C>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1251C>A	1.37:g.207644110C>A						CR2_uc001hfv.3_Silent_p.L417L|CR2_uc009xch.3_Silent_p.L417L|CR2_uc009xci.1_5'Flank	p.L417L	NM_001877	NP_001868	P20023	CR2_HUMAN			6	1370	+			417			Sushi 7.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.1251C>A	CCDS1478.1																																																																																				0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207644110	C	A	207644110	2	1	119	1	0	0	0	0	0	0	0	1	3842	813	29	5		5	CR2	1	207644110	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	39577972	207644110	41606511	9	8133											
LYST	1130	broad.mit.edu	37	chr1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggtttctagcgctcGtctctgaactggatcttcaa	8	15	8	10	2	5	1	2	1	3	0	7	2	5	2	0	2	2	2	0	2	4	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:235866229G>A	ENST00000389794.3	-	45	10366	c.10192C>T	c.(10192-10194)Cga>Tga	p.R3398*	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R3398*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAGCGCTCGTCTCTGAACT	0.453																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10192-10194)Cga>Tga		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							137	138	138					1																	235866229		2203	4300	6503	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866229G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10192C>T	1.37:g.235866229G>A	ENSP00000374444:p.Arg3398*					LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	p.R3398*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		44	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3398			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.10192C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	50	17.042780	0.99878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.52	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5097	0.75769	0.0:0.0:0.6391:0.3609	.	.	.	.	X	3398	.	ENSP00000374443:R3398X	R	-	1	2	LYST	233932852	1.000000	0.71417	0.550000	0.28217	0.140000	0.21249	2.072000	0.41510	0.714000	0.32081	-2.067000	0.00394	CGA		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235866229	G	A	235866229	4	1	119	1	0	0	0	0	0	1	0	0	9128	1153	40	1	1249	1	LYST	1	235866229	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	28222119	235866229	13384392	10	8134											
RYR2	6262	broad.mit.edu	37	chr1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccggctctactcagccGtctgtgctcttgggaaccac	5	11	9	16	2	5	0	1	0	4	0	6	1	5	1	3	2	4	2	3	2	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237777418G>A	ENST00000366574.2	+	37	5307	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I	RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I|RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517																																						uc001hyl.1																			1	Substitution - Missense(1)	p.V1662L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4990-4992)Gtc>Atc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							65	66	65					1																	237777418		2026	4196	6222	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777418G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4990G>A	1.37:g.237777418G>A	ENSP00000355533:p.Val1664Ile						p.V1664I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5110	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1664			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4990G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931319	0.52866	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.17	5.78	5.78	0.91487	.	0.095940	0.42420	D	0.000720	D	0.95720	0.8608	M	0.72118	2.19	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	D	0.92836	0.6284	10	0.62326	D	0.03	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1664	Q92736	RYR2_HUMAN	I	1664;1662;1648	ENSP00000355533:V1664I;ENSP00000353174:V1662I;ENSP00000443798:V1648I	ENSP00000353174:V1662I	V	+	1	0	RYR2	235844041	1.000000	0.71417	0.893000	0.35052	0.995000	0.86356	3.722000	0.54948	2.730000	0.93505	0.655000	0.94253	GTC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237777418	G	A	237777418	3	1	119	1	0	0	0	0	1	0	0	0	13769	1145	40	1	5136	1	RYR2	1	237777418	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	1911189	237777418	11473203	11	8135											
RYR2	6262	broad.mit.edu	37	chr1	237995876	237995876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatgtctggaagatgtatCaagaaaggtgttgggaattt	12	14	12	3	0	2	2	1	0	1	2	2	4	2	4	0	3	0	2	0	3	6	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237995876C>G	ENST00000366574.2	+	105	15150	c.14833C>G	c.(14833-14835)Caa>Gaa	p.Q4945E	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4951E|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4929E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4945					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGTATCAAGAAAGGTG	0.383																																						uc001hyl.1																			0		p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14833-14835)Caa>Gaa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							92	89	90					1																	237995876		1859	4126	5985	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237995876C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14833C>G	1.37:g.237995876C>G	ENSP00000355533:p.Gln4945Glu					RYR2_uc010pyb.1_3'UTR	p.Q4945E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		104	14953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4945					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14833C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052213	0.55218	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.09;-4.11	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000029	D	0.96935	0.8999	L	0.44542	1.39	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	D	0.97008	0.9734	10	0.52906	T	0.07	-14.2271	18.8364	0.92164	0.0:1.0:0.0:0.0	.	4945	Q92736	RYR2_HUMAN	E	4945;4951;4929	ENSP00000355533:Q4945E;ENSP00000353174:Q4951E;ENSP00000443798:Q4929E	ENSP00000353174:Q4951E	Q	+	1	0	RYR2	236062499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.278000	0.78587	2.677000	0.91161	0.655000	0.94253	CAA		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237995876	C	G	237995876	3	3	119	1	0	0	0	0	1	0	0	0	13769	827	29	5	15251	5	RYR2	1	237995876	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	218458	237995876	11254745	12	8136											
GRHL1	29841	broad.mit.edu	37	chr2	10102621	10102621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcagtctgcggatgcctgGcatgaattcagaggactatg	9	11	12	9	1	3	2	2	1	2	1	4	4	3	4	1	3	2	1	1	3	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:10102621G>A	ENST00000324907.9	+	5	843	c.707G>A	c.(706-708)gGc>gAc	p.G236D	GRHL1_ENST00000405379.2_Missense_Mutation_p.G236D|GRHL1_ENST00000324883.5_Intron	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	236					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGATGCCTGGCATGAATTCA	0.358																																						uc002raa.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(706-708)gGc>gAc		Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.							173	159	163					2																	10102621		1875	4108	5983	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10102621G>A	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.707G>A	2.37:g.10102621G>A	ENSP00000324693:p.Gly236Asp					GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Intron|GRHL1_uc010yjb.2_Missense_Mutation_p.G85D	p.G236D	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	878	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		236					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.707G>A	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879277	0.33162	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.11495	2.77;2.77	5.51	5.51	0.81932	.	0.372434	0.33591	N	0.004745	T	0.05914	0.0154	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.41945	-0.9480	10	0.27785	T	0.31	.	10.5383	0.45018	0.1173:0.0:0.8827:0.0	.	236	Q9NZI5	GRHL1_HUMAN	D	236	ENSP00000384209:G236D;ENSP00000324693:G236D	ENSP00000324693:G236D	G	+	2	0	GRHL1	10020072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.466000	0.53071	2.606000	0.88127	0.650000	0.86243	GGC		0.358	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		A	10102621	G	A	10102621	3	1	119	1	0	0	0	0	1	0	0	0	6763	1203	42	3	725	3	GRHL1	2	10102621	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		10102621	233096752	13	8137											
CCDC85A	114800	broad.mit.edu	37	chr2	56420095	56420095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactccaagcacaggagcGccagccccgagcatccacag	12	2	10	17	2	0	0	0	0	0	0	2	2	2	1	5	1	5	3	5	1	1	0	rs554353955		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:56420095G>A	ENST00000407595.2	+	2	1262	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	254	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCACAGGAGCGCCAGCCCCGA	0.657													G|||	1	0.000199681	0	0	5008	,	,		14054	0		0	False		,,,				2504	0.001					uc002rzn.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(760-762)Gcc>Acc		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							28	43	38					2																	56420095		2040	4206	6246	SO:0001583	missense	114800							g.chr2:56420095G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.760G>A	2.37:g.56420095G>A	ENSP00000384040:p.Ala254Thr					CCDC85A_uc021vhw.1_Intron	p.A254T	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	1262	+			254			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.760G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	2.657	-0.280741	0.05642	.	.	ENSG00000055813	ENST00000407595	T	0.43294	0.95	5.08	-6.53	0.01866	.	0.803078	0.11585	N	0.549393	T	0.12305	0.0299	N	0.03608	-0.345	0.22266	N	0.99924	B	0.11235	0.004	B	0.04013	0.001	T	0.26189	-1.0110	10	0.12766	T	0.61	-19.1476	3.9313	0.09286	0.5173:0.0989:0.2845:0.0993	.	254	Q96PX6	CC85A_HUMAN	T	254	ENSP00000384040:A254T	ENSP00000384040:A254T	A	+	1	0	CCDC85A	56273599	0.006000	0.16342	0.853000	0.33588	0.956000	0.61745	0.194000	0.17135	-1.251000	0.02494	-0.218000	0.12543	GCC		0.657	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			A	56420095	G	A	56420095	3	1	119	1	0	0	0	0	1	0	0	0	2859	1087	38	1	766	1	CCDC85A	2	56420095	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	46317474	56420095	186779278	14	8138											
SULT1C3	442038	broad.mit.edu	37	chr2	108872031	108872031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccttgatttcagattGtctatgtggccagaaatccc	8	14	7	12	0	3	3	1	1	2	2	5	3	4	3	4	1	0	0	4	1	2	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:108872031G>T	ENST00000329106.2	+	4	403	c.403G>T	c.(403-405)Gtc>Ttc	p.V135F	SULT1C3_ENST00000376700.1_Missense_Mutation_p.V135F	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	135					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTTCAGATTGTCTATGTGGC	0.413																																						uc010ywo.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(403-405)Gtc>Ttc		Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.							121	119	119					2																	108872031		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108872031G>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.403G>T	2.37:g.108872031G>T	ENSP00000333310:p.Val135Phe						p.V135F	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			3	403	+			135					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.403G>T	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	G	8.757	0.922721	0.18056	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.02369	4.32;4.32	3.58	1.03	0.20045	Sulfotransferase domain (1);	0.323857	0.26203	N	0.025731	T	0.05593	0.0147	L	0.47016	1.485	0.20074	N	0.999932	P	0.38745	0.645	P	0.49012	0.598	T	0.17198	-1.0377	10	0.72032	D	0.01	.	8.1575	0.31178	0.8109:0.0:0.1891:0.0	.	135	Q6IMI6	ST1C3_HUMAN	F	135	ENSP00000333310:V135F;ENSP00000365890:V135F	ENSP00000333310:V135F	V	+	1	0	SULT1C3	108238463	0.937000	0.31787	0.024000	0.17045	0.110000	0.19582	2.105000	0.41825	0.110000	0.17919	-1.128000	0.01989	GTC		0.413	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		T	108872031	G	T	108872031	3	4	119	1	0	0	0	0	1	0	0	0	15375	1377	48	5	417	5	SULT1C3	2	108872031	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	52451936	108872031	134327342	15	8139											
SLC4A10	57282	broad.mit.edu	37	chr2	162813661	162813661	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccaggagaacaacccAaatttctcggcattcgggag	12	7	10	12	2	1	1	0	0	1	1	4	3	2	2	2	3	3	2	2	3	3	2	rs543195068		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:162813661A>T	ENST00000446997.1	+	20	2797	c.2704A>T	c.(2704-2706)Aaa>Taa	p.K902*	SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.K883*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.K902*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.K872*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.K872*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	902					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGAACAACCCAAATTTCTCGG	0.448																																						uc002ubx.4																			0		p.K901K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2704-2706)Aaa>Taa		Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.							63	65	64					2																	162813661		2079	4262	6341	SO:0001587	stop_gained	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162813661A>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2704A>T	2.37:g.162813661A>T	ENSP00000393066:p.Lys902*					SLC4A10_uc010zcs.2_Nonsense_Mutation_p.K883*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.K872*	p.K902*	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN			19	2888	+			902					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	ENST00000446997.1	37	c.2704A>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	40	8.285308	0.98742	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4997	0.75687	1.0:0.0:0.0:0.0	.	.	.	.	X	883;872;872;871;902;902;901	.	ENSP00000272716:K872X	K	+	1	0	SLC4A10	162521907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.108000	0.64289	0.533000	0.62120	AAA		0.448	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		T	162813661	A	T	162813661	4	4	119	1	0	0	0	0	0	1	0	0	14651	131	5	5	2867	5	SLC4A10	2	162813661	Nonsense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	53941630	162813661	80385712	16	8140											
SCN9A	6335	broad.mit.edu	37	chr2	167141278	167141278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgaaactaaaaagActtgttctgctgcttcgcct	9	14	7	11	1	1	2	0	1	1	1	2	2	1	2	2	0	4	3	2	0	4	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:167141278A>T	ENST00000409435.1	-	11	1658	c.1659T>A	c.(1657-1659)agT>agA	p.S553R	SCN9A_ENST00000375387.4_Missense_Mutation_p.S554R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S554R|SCN9A_ENST00000409672.1_Missense_Mutation_p.S553R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	553					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACTAAAAAGACTTGTTCTGC	0.443																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1657-1659)agT>agA		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						53	53	53					2																	167141278		1906	4140	6046	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141278A>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1659T>A	2.37:g.167141278A>T	ENSP00000386330:p.Ser553Arg					BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	p.S553R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	2000	-			553					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1659T>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528215	0.44969	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.64	1.96	0.26148	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.92923	3.36	0.48341	D	0.99963	B;B;P	0.37824	0.052;0.136;0.609	B;B;B	0.40009	0.057;0.084;0.316	D	0.92677	0.6155	10	0.87932	D	0	.	9.2364	0.37468	0.6526:0.0:0.3474:0.0	.	553;553;554	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	R	553;554;554;553;418;418	ENSP00000386306:S553R;ENSP00000364536:S554R;ENSP00000304748:S554R;ENSP00000386330:S553R;ENSP00000413212:S418R;ENSP00000393141:S418R	ENSP00000304748:S554R	S	-	3	2	SCN9A	166849524	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	0.674000	0.25218	0.152000	0.19188	-0.410000	0.06199	AGT		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167141278	A	T	167141278	3	4	119	1	0	0	0	0	1	0	0	0	13925	272	10	5	4338	5	SCN9A	2	167141278	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	4327617	167141278	76058095	17	8141											
TTN	7273	broad.mit.edu	37	chr2	179456812	179456812	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggttgccttcattcagaTgcttagcgaagtgactcttt	8	15	9	9	1	3	2	2	1	1	1	3	3	3	2	1	1	3	2	1	1	2	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:179456812T>A	ENST00000591111.1	-	252	55120	c.54896A>T	c.(54895-54897)cAt>cTt	p.H18299L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H10875L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H11000L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H19940L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H17372L|TTN_ENST00000342175.6_Missense_Mutation_p.H11067L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18299	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTCAGATGCTTAGCGAA	0.463																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(52114-52116)cAt>cTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							81	80	80					2																	179456812		1931	4139	6070	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456812T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54896A>T	2.37:g.179456812T>A	ENSP00000465570:p.His18299Leu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H11067L|TTN_uc021vta.1_Missense_Mutation_p.H11000L|TTN_uc021vtb.1_Missense_Mutation_p.H10875L	p.H17372L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52340	-			18299			Fibronectin type-III 26.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.52115A>T		.	.	.	.	.	.	.	.	.	.	T	14.14	2.445193	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62684	0.2448	M	0.68952	2.095	0.53688	D	0.999975	P;P;P;P	0.43578	0.811;0.811;0.811;0.811	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.66416	-0.5929	9	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	10875;11000;11067;18299	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	17372;10875;11067;11000;10873	ENSP00000343764:H17372L;ENSP00000434586:H10875L;ENSP00000340554:H11067L;ENSP00000352154:H11000L	ENSP00000340554:H11067L	H	-	2	0	TTN	179165058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.991000	0.88244	2.313000	0.78055	0.455000	0.32223	CAT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179456812	T	A	179456812	3	1	119	1	0	0	0	0	1	0	0	0	16732	1464	51	5	48404	5	TTN	2	179456812	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	12315534	179456812	63742561	18	8142											
SLC4A7	9497	broad.mit.edu	37	chr3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattccaaataattttataCggtcaaataactacatatag	17	13	4	7	1	1	0	1	0	0	0	2	0	2	0	1	1	3	1	1	1	9	9			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:27431585C>T	ENST00000295736.5	-	22	3240	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1049H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R607H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R933H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1066H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R942H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1053H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1057					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TAATTTTATACGGTCAAATAA	0.328																																						uc011aww.2																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3196-3198)cGt>cAt		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.							86	97	93					3																	27431585		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27431585C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3170G>A	3.37:g.27431585C>T	ENSP00000295736:p.Arg1057His					SLC4A7_uc011awx.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wun.1_Missense_Mutation_p.R942H|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.R938H|SLC4A7_uc011axb.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.R938H|SLC4A7_uc010hfl.3_Missense_Mutation_p.R607H|SLC4A7_uc003cdv.3_Missense_Mutation_p.R1057H|SLC4A7_uc003cdw.3_Missense_Mutation_p.R933H	p.R1066H	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			21	3418	-			1057					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3197G>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305851	0.95629	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.31	5.31	0.75309	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97705	1.0187	10	0.87932	D	0	.	18.9786	0.92747	0.0:1.0:0.0:0.0	.	1053;938;1049;1053;1066;607;933;1057;938	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	608;1057;933;1066;1053;938;1049;938;1053;942;607;953	ENSP00000411031:R608H;ENSP00000295736:R1057H;ENSP00000416368:R933H;ENSP00000390394:R1066H;ENSP00000414797:R1053H;ENSP00000394252:R938H;ENSP00000406605:R1049H;ENSP00000407382:R938H;ENSP00000406804:R1053H;ENSP00000395336:R942H;ENSP00000373429:R607H;ENSP00000388703:R953H	ENSP00000295736:R1057H	R	-	2	0	SLC4A7	27406589	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	7.818000	0.86416	2.479000	0.83701	0.650000	0.86243	CGT		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		T	27431585	C	T	27431585	3	4	119	1	0	0	0	0	1	0	0	0	14658	536	19	1	490	1	SLC4A7	3	27431585	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		27431585	170590845	19	8143											
MST1R	4486	broad.mit.edu	37	chr3	49939965	49939965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagagttggggcccaCgccaggaccaccatccttgc	9	5	12	15	2	0	1	0	0	0	1	1	4	1	2	5	3	1	1	5	3	0	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:49939965C>T	ENST00000296474.3	-	1	1105	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.V360M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTGGGGCCCACGCCAGGACCA	0.587																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1078-1080)Gtg>Atg		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							144	141	142					3																	49939965		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49939965C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1078G>A	3.37:g.49939965C>T	ENSP00000296474:p.Val360Met					MST1R_uc011bdc.2_Missense_Mutation_p.V360M|MST1R_uc011bdd.2_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.2_Missense_Mutation_p.V360M	p.V360M	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	1342	-			360			Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1078G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494357	0.26774	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04454	3.62;3.62	4.83	0.729	0.18266	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.659026	0.14552	N	0.312597	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.30236	0.224;0.274;0.224;0.224;0.007	B;B;B;B;B	0.17433	0.018;0.015;0.018;0.012;0.006	T	0.43278	-0.9401	10	0.51188	T	0.08	-0.9594	1.2106	0.01904	0.1476:0.2848:0.3448:0.2228	.	360;360;360;360;360	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	M	360	ENSP00000296474:V360M;ENSP00000341325:V360M	ENSP00000296474:V360M	V	-	1	0	MST1R	49914969	0.000000	0.05858	0.002000	0.10522	0.784000	0.44337	-0.472000	0.06623	0.084000	0.17077	0.561000	0.74099	GTG		0.587	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			T	49939965	C	T	49939965	3	4	119	1	0	0	0	0	1	0	0	0	9891	536	19	1	3204	1	MST1R	3	49939965	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	22508380	49939965	148082465	20	8144											
ITIH1	3697	broad.mit.edu	37	chr3	52816072	52816072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtcgagacaagatctgCgacctcctggtgagccctga	9	8	12	12	2	2	4	1	2	1	2	4	6	3	4	3	1	2	0	3	1	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:52816072C>T	ENST00000273283.2	+	7	828	c.804C>T	c.(802-804)tgC>tgT	p.C268C	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Silent_p.C268C|ITIH1_ENST00000540715.1_Silent_p.C126C|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	268					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAAGATCTGCGACCTCCTGG	0.587																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(802-804)tgC>tgT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.							140	122	128					3																	52816072		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52816072C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.804C>T	3.37:g.52816072C>T						ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.C126C|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	p.C268C	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	6	834	+			268					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.804C>T	CCDS2864.1																																																																																				0.587	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52816072	C	T	52816072	2	4	119	1	0	0	0	0	0	0	0	1	7903	776	27	1		1	ITIH1	3	52816072	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	2876107	52816072	145206358	21	8145											
SORCS2	57537	broad.mit.edu	37	chr4	7666134	7666134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccgagaagatgctgacagCcccattcgcaggccccattg	9	7	10	15	2	0	3	0	1	0	2	2	4	1	3	5	1	2	2	5	1	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:7666134C>T	ENST00000507866.2	+	7	1116	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A164V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	336					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGCTGACAGCCCCATTCGCA	0.557																																						uc003gkb.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1006-1008)gCc>gTc		Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.							63	64	63					4																	7666134		2029	4178	6207	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7666134C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1007C>T	4.37:g.7666134C>T	ENSP00000422185:p.Ala336Val					SORCS2_uc011bwi.2_Missense_Mutation_p.A164V	p.A336V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			6	1007	+			336					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1007C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466400	0.04476	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30714	1.52;1.52	4.79	1.54	0.23209	VPS10 (1);	1.094360	0.07009	N	0.824750	T	0.19366	0.0465	N	0.20685	0.6	0.09310	N	1	B;B	0.18863	0.002;0.031	B;B	0.11329	0.003;0.006	T	0.29397	-1.0013	10	0.15952	T	0.53	.	9.193	0.37211	0.0:0.6417:0.0:0.3583	.	164;336	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	336;164	ENSP00000422185:A336V;ENSP00000329124:A164V	ENSP00000329124:A164V	A	+	2	0	SORCS2	7717034	0.004000	0.15560	0.001000	0.08648	0.015000	0.08874	1.135000	0.31454	0.448000	0.26722	0.650000	0.86243	GCC		0.557	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		T	7666134	C	T	7666134	3	4	119	1	0	0	0	0	1	0	0	0	14931	739	26	3	1033	3	SORCS2	4	7666134	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		7666134	183488142	22	8146											
GC	2638	broad.mit.edu	37	chr4	72618353	72618353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaggcaattttgcttttAgtcgctctgccagtctgaaa	9	14	8	10	1	3	1	1	1	2	0	4	1	3	1	1	1	2	3	1	1	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:72618353A>G	ENST00000273951.8	-	11	1620	c.1277T>C	c.(1276-1278)cTa>cCa	p.L426P	GC_ENST00000504199.1_Missense_Mutation_p.L445P|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.L426P	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	426	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTTTGCTTTTAGTCGCTCTGC	0.388																																						uc010iif.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(1333-1335)cTa>cCa		Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	Cholecalciferol(DB00169)						169	144	153					4																	72618353		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72618353A>G	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1277T>C	4.37:g.72618353A>G	ENSP00000273951:p.Leu426Pro					GC_uc003hge.3_Missense_Mutation_p.L426P|GC_uc021xpb.1_Missense_Mutation_p.L426P	p.L445P	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Lung(101;0.148)		11	1429	-		all_hematologic(202;0.107)	426		R -> C (in allele GC*2A9).|R -> H (in allele GC*1A1; dbSNP:rs9016).	Albumin 3.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1334T>C	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712862	0.48517	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.30448	1.53;1.53;1.53	5.22	5.22	0.72569	.	0.442914	0.22550	N	0.058607	T	0.52354	0.1729	M	0.65975	2.015	0.28523	N	0.912962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.52026	-0.8630	10	0.87932	D	0	.	11.7586	0.51890	1.0:0.0:0.0:0.0	.	445;426	D6RAK8;D6RF35	.;.	P	426;445;426	ENSP00000273951:L426P;ENSP00000421725:L445P;ENSP00000426683:L426P	ENSP00000273951:L426P	L	-	2	0	GC	72837217	0.143000	0.22626	0.008000	0.14137	0.033000	0.12548	4.327000	0.59247	2.089000	0.63090	0.477000	0.44152	CTA		0.388	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			G	72618353	A	G	72618353	3	3	119	1	0	0	0	0	1	0	0	0	6282	420	15	4	155	4	GC	4	72618353	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	64952219	72618353	118535923	23	8147											
FAM190A	401145	broad.mit.edu	37	chr4	91230163	91230163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcaggaagctctttacAatctcctttgctttctgctg	7	14	9	11	1	3	0	0	0	3	0	4	1	3	1	1	2	4	4	1	2	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:91230163A>T	ENST00000509176.1	+	2	1016	c.728A>T	c.(727-729)cAa>cTa	p.Q243L	CCSER1_ENST00000432775.2_Missense_Mutation_p.Q243L|CCSER1_ENST00000333691.8_Missense_Mutation_p.Q243L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	243																	AGCTCTTTACAATCTCCTTTG	0.418																																						uc003hsv.4																			0				NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(727-729)cAa>cTa		Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.							84	78	80					4																	91230163		1875	4104	5979	SO:0001583	missense	401145							g.chr4:91230163A>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.728A>T	4.37:g.91230163A>T	ENSP00000425040:p.Gln243Leu					FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.Q243L	p.Q243L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			1	1068	+			243					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.728A>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345968	0.41599	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.57907	0.85;0.37;0.85	4.94	-0.956	0.10353	.	0.266370	0.37623	N	0.002006	T	0.50292	0.1607	L	0.48642	1.525	0.35164	D	0.770922	P;B;P	0.44478	0.836;0.449;0.675	P;B;B	0.46758	0.526;0.265;0.265	T	0.64300	-0.6440	10	0.87932	D	0	-2.6463	14.2231	0.65841	0.5048:0.4952:0.0:0.0	.	243;243;243	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	243	ENSP00000425040:Q243L;ENSP00000389283:Q243L;ENSP00000329482:Q243L	ENSP00000329482:Q243L	Q	+	2	0	FAM190A	91449186	1.000000	0.71417	0.013000	0.15412	0.996000	0.88848	4.553000	0.60753	-0.187000	0.10516	0.533000	0.62120	CAA		0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	91230163	A	T	91230163	3	4	119	1	0	0	0	0	1	0	0	0	5521	130	5	5	730	5	FAM190A	4	91230163	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	18611810	91230163	99924113	24	8148											
C4orf21	55345	broad.mit.edu	37	chr4	113481967	113481967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgatgccatcatttGagctatttgaattagagctg	10	16	9	6	0	2	4	2	3	0	1	2	4	2	4	1	0	3	2	1	0	3	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:113481967G>T	ENST00000505019.1	-	19	5007	c.4882C>A	c.(4882-4884)Caa>Aaa	p.Q1628K		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1628						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCATCATTTGAGCTATTTGA	0.378																																						uc003iau.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4882-4884)Caa>Aaa		Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.							176	161	166					4																	113481967		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113481967G>T																												ENST00000505019.1:c.4882C>A	4.37:g.113481967G>T	ENSP00000424737:p.Gln1628Lys					C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.Q86K	p.Q1628K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	18	5093	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.4882C>A		.	.	.	.	.	.	.	.	.	.	G	5.090	0.202229	0.09652	.	.	ENSG00000138658	ENST00000505019	T	0.80994	-1.44	5.95	5.1	0.69264	.	1.032310	0.07676	N	0.936260	T	0.72503	0.3468	L	0.38175	1.15	0.32207	N	0.57706	P;B	0.39311	0.667;0.129	B;B	0.35655	0.207;0.084	T	0.64097	-0.6487	10	0.13853	T	0.58	-14.8576	12.717	0.57121	0.0:0.126:0.7429:0.1311	.	1628;86	G5EA02;B3KQX2	.;.	K	1628	ENSP00000424737:Q1628K	ENSP00000404365:Q526K	Q	-	1	0	C4orf21	113701416	0.290000	0.24343	0.085000	0.20634	0.195000	0.23768	1.742000	0.38248	1.495000	0.48549	0.650000	0.86243	CAA		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			T	113481967	G	T	113481967	3	4	119	1	0	0	0	0	1	0	0	0	2254	1299	45	5	1472	5	C4orf21	4	113481967	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	22251804	113481967	77672309	25	8149											
ANK2	287	broad.mit.edu	37	chr4	114251469	114251469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagacacaatgggctcCgaatcattattccacctcgg	11	9	9	12	2	1	1	1	0	0	1	4	3	3	1	3	2	1	2	3	2	3	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:114251469C>G	ENST00000357077.4	+	27	3021	c.2968C>G	c.(2968-2970)Cga>Gga	p.R990G	ANK2_ENST00000509550.1_Missense_Mutation_p.R199G|ANK2_ENST00000506722.1_Missense_Mutation_p.R981G|ANK2_ENST00000264366.6_Missense_Mutation_p.R990G|ANK2_ENST00000394537.3_Missense_Mutation_p.R990G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	990	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATGGGCTCCGAATCATTAT	0.473																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2968-2970)Cga>Gga		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							77	71	73					4																	114251469		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251469C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2968C>G	4.37:g.114251469C>G	ENSP00000349588:p.Arg990Gly					ANK2_uc003ibd.4_Missense_Mutation_p.R981G|ANK2_uc003ibf.4_Missense_Mutation_p.R990G|ANK2_uc011cgc.2_Missense_Mutation_p.R199G|ANK2_uc003ibg.4_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	p.R990G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	26	3068	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	990			Interaction with SPTBN1.|ZU5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2968C>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.990038|3.990038	0.74589|0.74589	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.93|5.93	3.98|3.98	0.46160|0.46160	.|ZU5 (3);	.|0.000000	.|0.49916	.|D	.|0.000133	T|T	0.63212|0.63212	0.2492|0.2492	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.994;1.0;0.999;0.992	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.964;0.999;0.971;0.979	T|T	0.68029|0.68029	-0.5517|-0.5517	5|10	.|0.87932	.|D	.|0	.|.	15.6511|15.6511	0.77095|0.77095	0.3331:0.6669:0.0:0.0|0.3331:0.6669:0.0:0.0	.|.	.|199;990;35;990;990;981;981	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	R|G	35|969;936;981;69;1005;990;990;990;981;199	.|ENSP00000423799:R969G;ENSP00000421011:R936G;ENSP00000421067:R981G;ENSP00000424722:R1005G;ENSP00000378044:R990G;ENSP00000349588:R990G;ENSP00000264366:R990G;ENSP00000426944:R199G	.|ENSP00000264366:R990G	P|R	+|+	2|1	0|2	ANK2|ANK2	114470918|114470918	0.750000|0.750000	0.28316|0.28316	0.990000|0.990000	0.47175|0.47175	0.948000|0.948000	0.59901|0.59901	1.476000|1.476000	0.35420|0.35420	1.444000|1.444000	0.47605|0.47605	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114251469	C	G	114251469	3	3	119	1	0	0	0	0	1	0	0	0	621	644	23	5	3139	5	ANK2	4	114251469	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	769502	114251469	76902807	26	8150											
MYO10	4651	broad.mit.edu	37	chr5	16769271	16769271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagcagcctcgacacttcCcgaacttcctccttgctgaa	9	9	7	16	2	0	1	0	1	0	0	4	3	3	1	4	0	4	3	4	0	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:16769271C>T	ENST00000513610.1	-	10	1426	c.972G>A	c.(970-972)cgG>cgA	p.R324R		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	324	Myosin motor.		R -> W (in dbSNP:rs11750538). {ECO:0000269|PubMed:10984435, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGACACTTCCCGAACTTCCT	0.413																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(970-972)cgG>cgA		Homo sapiens myosin X (MYO10), mRNA.							111	102	105					5																	16769271		1925	4136	6061	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16769271C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.972G>A	5.37:g.16769271C>T						MYO10_uc010itx.3_5'Flank	p.R324R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			9	1440	-			324		R -> W (in dbSNP:rs11750538).	Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.972G>A	CCDS54834.1																																																																																				0.413	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16769271	C	T	16769271	2	4	119	1	0	0	0	0	0	0	0	1	10062	610	22	3		3	MYO10	5	16769271	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08		16769271	164145989	27	8151											
TSSK1B	83942	broad.mit.edu	37	chr5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttgtcagagccaggttCgggggtccacaagggttcag	7	10	14	10	1	3	1	2	0	1	1	5	1	4	1	2	4	1	2	2	4	1	4	rs371461523		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:112769636C>T	ENST00000390666.3	-	1	1092	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	301					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622													C|||	1	0.000199681	0	0	5008	,	,		17425	0		0	False		,,,				2504	0.001					uc003kqm.2																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(901-903)Gaa>Aaa		Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.		C	,LYS/GLU	0,4180		0,0,2090	35	39	38		,901	0.9	0.1	5		38	1,8489		0,1,4244	no	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,56	0,1,6334	TT,TC,CC		0.0118,0.0,0.0079	,benign	,301/368	112769636	1,12669	2090	4245	6335	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769636C>T	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.901G>A	5.37:g.112769636C>T	ENSP00000375081:p.Glu301Lys					MCC_uc003kql.4_Intron	p.E301K	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	0	1093	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	301					B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.901G>A	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467956	0.12402	0.0	1.18E-4	ENSG00000212122	ENST00000390666	T	0.68025	-0.3	0.9	0.9	0.19278	Protein kinase-like domain (1);	0.222293	0.22012	U	0.065853	T	0.35219	0.0924	N	0.08118	0	0.21697	N	0.999583	B	0.06786	0.001	B	0.01281	0.0	T	0.17018	-1.0383	10	0.08381	T	0.77	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	301	Q9BXA7	TSSK1_HUMAN	K	301	ENSP00000375081:E301K	ENSP00000375081:E301K	E	-	1	0	TSSK1B	112797535	0.001000	0.12720	0.050000	0.19076	0.051000	0.14879	-0.332000	0.07904	0.308000	0.22923	0.313000	0.20887	GAA		0.622	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		T	112769636	C	T	112769636	3	4	119	1	0	0	0	0	1	0	0	0	16665	893	31	2	206	2	TSSK1B	5	112769636	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	96000365	112769636	68145624	28	8152											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711854	140711854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactgaaagtgatggcgCgggacagtggggatccgccc	9	6	16	10	3	0	2	0	2	0	0	1	4	1	4	2	4	2	1	2	4	2	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:140711854C>T	ENST00000517417.1	+	1	1603	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R535W|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGATGGCGCGGGACAGTGG	0.602																																						uc003lji.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1603-1605)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							184	197	192					5																	140711854		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711854C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1603C>T	5.37:g.140711854C>T	ENSP00000431083:p.Arg535Trp					PCDHGC5_uc011dan.2_Missense_Mutation_p.R535W	p.R535W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1603	+			537			Cadherin 5.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1603C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204980	0.06180	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.54866	0.55;0.55	3.82	-1.5	0.08691	Cadherin (5);Cadherin-like (1);	3.495430	0.01896	N	0.038898	T	0.54532	0.1864	M	0.83774	2.66	0.09310	N	1	B;B	0.25351	0.06;0.124	B;B	0.21546	0.033;0.035	T	0.38478	-0.9659	10	0.54805	T	0.06	.	4.6906	0.12780	0.5261:0.293:0.0973:0.0837	.	535;535	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	535	ENSP00000431083:R535W;ENSP00000367345:R535W	ENSP00000367345:R535W	R	+	1	2	PCDHGA1	140692038	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.652000	0.01988	-0.255000	0.09486	0.557000	0.71058	CGG		0.602	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140711854	C	T	140711854	3	4	119	1	0	0	0	0	1	0	0	0	11550	759	27	1	1605	1	PCDHGA1	5	140711854	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	27942218	140711854	40203406	29	8153											
FBXO38	81545	broad.mit.edu	37	chr5	147782003	147782003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcgtaatcgtaatggAgcttttccaattcctcctga	11	15	6	9	2	0	1	0	1	0	0	5	2	3	2	3	1	1	3	3	1	4	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:147782003A>G	ENST00000340253.5	+	5	687	c.519A>G	c.(517-519)ggA>ggG	p.G173G	FBXO38_ENST00000296701.6_Silent_p.G173G|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.G173G|FBXO38_ENST00000513826.1_Silent_p.G173G			Q6PIJ6	FBX38_HUMAN	F-box protein 38	173					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGTAATGGAGCTTTTCCAA	0.363																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(517-519)ggA>ggG		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							118	119	119					5																	147782003		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147782003A>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.519A>G	5.37:g.147782003A>G						FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	p.G173G	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	639	+			173					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.519A>G																																																																																					0.363	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147782003	A	G	147782003	2	3	119	1	0	0	0	0	0	0	0	1	5746	291	11	4		4	FBXO38	5	147782003	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	7070149	147782003	33133257	30	8154											
EXOC2	55770	broad.mit.edu	37	chr6	619481	619481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgctgagaaattctcaCttgtaaaatcagcactcatt	13	12	7	9	0	3	1	3	1	1	1	4	2	3	1	0	1	2	4	0	1	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:619481C>T	ENST00000230449.4	-	5	620	c.485G>A	c.(484-486)aGt>aAt	p.S162N	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	162					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAATTCTCACTTGTAAAATC	0.378																																						uc003mtd.3																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(484-486)aGt>aAt		Homo sapiens exocyst complex component 2 (EXOC2), mRNA.							128	128	128					6																	619481		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:619481C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.485G>A	6.37:g.619481C>T	ENSP00000230449:p.Ser162Asn					EXOC2_uc003mte.3_Missense_Mutation_p.S162N|EXOC2_uc011dho.2_Intron	p.S162N	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	4	619	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	162					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.485G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218261	0.58560	.	.	ENSG00000112685	ENST00000230449	T	0.55930	0.49	4.99	4.99	0.66335	.	0.037922	0.85682	D	0.000000	T	0.31670	0.0804	L	0.31065	0.9	0.80722	D	1	B	0.15719	0.014	B	0.12837	0.008	T	0.15549	-1.0433	10	0.54805	T	0.06	1.6314	18.6451	0.91408	0.0:1.0:0.0:0.0	.	162	Q96KP1	EXOC2_HUMAN	N	162	ENSP00000230449:S162N	ENSP00000230449:S162N	S	-	2	0	EXOC2	564481	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.421000	0.80204	2.457000	0.83068	0.591000	0.81541	AGT		0.378	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		T	619481	C	T	619481	3	4	119	1	0	0	0	0	1	0	0	0	5302	565	20	3	2385	3	EXOC2	6	619481	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		619481	170495586	31	8155											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaagtttcctgtgaCgctgggtcagcccaacaccc	7	11	9	14	1	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	2	3	rs144060347		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTTCCTGTGACGCTGGGTCAG	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		24198	0		0	False		,,,				2504	0					uc003obx.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(370-372)aCg>aTg		Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	MET/THR	1,3021		0,1,1510	193	152	167		371	-6.1	0.1	6	dbSNP_134	167	0,5418		0,0,2709	no	missense	HLA-DQA2	NM_020056.4	81	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	benign	124/256	32713607	1,8439	1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713607C>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.371C>T	6.37:g.32713607C>T	ENSP00000364076:p.Thr124Met						p.T124M	NM_020056	NP_064440	P01906	DQA2_HUMAN			2	429	+			124			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.371C>T	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	1.637	-0.517475	0.04171	3.31E-4	0.0	ENSG00000237541	ENST00000374940	T	0.02944	4.1	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.076460	0.07279	N	0.870376	T	0.00356	0.0011	N	0.03304	-0.355	0.19575	N	0.999965	B	0.12630	0.006	B	0.08055	0.003	T	0.47674	-0.9099	10	0.27785	T	0.31	.	1.4748	0.02424	0.1405:0.315:0.142:0.4025	.	124	P01906	DQA2_HUMAN	M	124	ENSP00000364076:T124M	ENSP00000364076:T124M	T	+	2	0	HLA-DQA2	32821585	0.016000	0.18221	0.086000	0.20670	0.026000	0.11368	-0.799000	0.04560	-0.954000	0.03640	0.174000	0.16983	ACG		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		T	32713607	C	T	32713607	3	4	119	1	0	0	0	0	1	0	0	0	7205	536	19	1	381	1	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	32094126	32713607	138401460	32	8156											
BRPF3	27154	broad.mit.edu	37	chr6	36175096	36175096	+	Frame_Shift_Del	DEL	C	C	-																															cttccctcctgtagcgagagCaggatgagaagacaagtgca																										TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:36175096delC	ENST00000357641.6	+	4	1865	c.1612delC	c.(1612-1614)cagfs	p.Q538fs	BRPF3_ENST00000534400.1_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000534694.1_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000543502.1_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000443324.2_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000339717.7_Frame_Shift_Del_p.Q538fs	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	538					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTAGCGAGAGCAGGATGAGAA	0.547																																						uc003olv.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1612-1614)cagfs		Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.							71	64	66					6																	36175096		2203	4300	6503	SO:0001589	frameshift_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36175096delC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1612delC	6.37:g.36175096delC	ENSP00000350267:p.Gln538fs					BRPF3_uc010jwb.3_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.Q538fs	p.Q538fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			3	1836	+			538					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Frame_Shift_Del	DEL	ENST00000357641.6	37	c.1612delC	CCDS34437.1																																																																																				0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		-	36175096	C	-	36175096	7	5	119	1	0	1	0	1	0	0	0	0	1521	711	25	0	1622	0	BRPF3	6	36175096	Frame_Shift_Del	DEL	C	TCGA-12-3649-01A-01D-1495-08	3461489	36175096	134939971	33	8157											
BMP5	653	broad.mit.edu	37	chr6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagtggcagccacatgagcGtactaccatatttctatatt	11	14	7	9	1	1	1	0	1	1	0	1	1	1	1	2	1	4	2	2	1	6	8			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:55620351G>A	ENST00000370830.3	-	7	2043	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_ENST00000446683.2_Missense_Mutation_p.R412C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	449					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328																																						uc003pcq.3																			0		p.R449H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1345-1347)Cgc>Tgc		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.							55	58	57					6																	55620351		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55620351G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1345C>T	6.37:g.55620351G>A	ENSP00000359866:p.Arg449Cys					BMP5_uc011dxf.2_Missense_Mutation_p.R412C	p.R449C	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	2057	-	Lung NSC(77;0.0462)		449					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1345C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408449	0.62399	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89415	-2.51;-2.51	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.93716	0.7028	10	0.87932	D	0	.	15.0392	0.71774	0.0:0.0:0.8579:0.1421	.	412;449	B4E0Y4;P22003	.;BMP5_HUMAN	C	449;412	ENSP00000359866:R449C;ENSP00000391818:R412C	ENSP00000359866:R449C	R	-	1	0	BMP5	55728310	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	5.038000	0.64177	2.854000	0.98071	0.655000	0.94253	CGC		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			A	55620351	G	A	55620351	3	1	119	1	0	0	0	0	1	0	0	0	1463	1145	40	1	23	1	BMP5	6	55620351	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	19445255	55620351	115494716	34	8158											
C6orf167	253714	broad.mit.edu	37	chr6	97613246	97613246	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagctggaagaaatcGcccaatatactgctcaataa	15	9	9	8	1	1	2	1	1	0	1	2	3	1	3	1	2	3	2	1	2	8	3	rs146474162		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:97613246G>A	ENST00000275053.4	-	21	3362	c.3097C>T	c.(3097-3099)Cga>Tga	p.R1033*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.R993*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1033					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAAGAAATCGCCCAATATAC	0.393													G|||	1	0.000199681	0	0	5008	,	,		17624	0.001		0	False		,,,				2504	0					uc003ppb.3																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3097-3099)Cga>Tga		Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.							118	110	113					6																	97613246		2203	4300	6503	SO:0001587	stop_gained	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97613246G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3097C>T	6.37:g.97613246G>A	ENSP00000275053:p.Arg1033*					MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Nonsense_Mutation_p.R993*	p.R1033*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN			20	3363	-			1033					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	ENST00000275053.4	37	c.3097C>T	CCDS5039.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	43	10.134346	0.99344	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	.	.	.	5.79	3.98	0.46160	.	0.054767	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4903	15.3483	0.74359	0.0:0.0:0.7456:0.2544	.	.	.	.	X	1033;993	.	ENSP00000275053:R1033X	R	-	1	2	MMS22L	97719967	0.998000	0.40836	0.999000	0.59377	0.989000	0.77384	3.990000	0.56965	0.758000	0.33059	-0.181000	0.13052	CGA		0.393	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		A	97613246	G	A	97613246	4	1	119	1	0	0	0	0	0	1	0	0	2342	1095	38	1	654	1	C6orf167	6	97613246	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	41992895	97613246	73501821	35	8159											
GRIK2	2898	broad.mit.edu	37	chr6	102483322	102483322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccagcgagtcctcacctCtgattatgctttcctaatgg	9	13	7	12	1	2	1	1	1	1	0	5	2	5	1	4	1	2	1	4	1	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:102483322C>G	ENST00000421544.1	+	14	2682	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	GRIK2_ENST00000318991.6_Missense_Mutation_p.S731C|GRIK2_ENST00000369138.1_Missense_Mutation_p.S731C|GRIK2_ENST00000413795.1_Missense_Mutation_p.S731C|GRIK2_ENST00000369137.3_Missense_Mutation_p.S655C|GRIK2_ENST00000369134.4_Missense_Mutation_p.S682C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	731					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCCTCACCTCTGATTATGCT	0.443																																						uc003pqp.4																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2191-2193)tCt>tGt		Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						170	170	170					6																	102483322		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483322C>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2192C>G	6.37:g.102483322C>G	ENSP00000397026:p.Ser731Cys					GRIK2_uc010kcw.3_Missense_Mutation_p.S731C|GRIK2_uc003pqo.4_Missense_Mutation_p.S731C|GRIK2_uc021zdk.1_Missense_Mutation_p.S544C|GRIK2_uc021zdl.1_Non-coding_Transcript	p.S731C	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	13	2485	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	731					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2192C>G	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113928	0.94339	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	M	0.77820	2.39	0.58432	D	0.999993	P;P;P	0.52842	0.946;0.956;0.946	P;P;P	0.57425	0.721;0.82;0.725	T	0.03503	-1.1030	10	0.72032	D	0.01	.	19.301	0.94144	0.0:1.0:0.0:0.0	.	731;731;731	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	731;731;731;655;731;682;506	ENSP00000397026:S731C;ENSP00000405596:S731C;ENSP00000358134:S731C;ENSP00000358133:S655C;ENSP00000313276:S731C;ENSP00000358130:S682C	ENSP00000313276:S731C	S	+	2	0	GRIK2	102590015	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.555000	0.86185	0.655000	0.94253	TCT		0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			G	102483322	C	G	102483322	3	3	119	1	0	0	0	0	1	0	0	0	6774	913	32	5	2246	5	GRIK2	6	102483322	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	4870076	102483322	68631745	36	8160											
PCLO	27445	broad.mit.edu	37	chr7	82508670	82508670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttccataagcttccccGtctgttccgcacttccccca	6	12	4	19	2	1	0	0	0	1	0	5	0	5	0	7	0	2	3	7	0	2	6	rs576824740		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr7:82508670G>A	ENST00000333891.9	-	10	13974	c.13637C>T	c.(13636-13638)aCg>aTg	p.T4546M	PCLO_ENST00000423517.2_Missense_Mutation_p.T4546M|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T4546M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGCTTCCCCGTCTGTTCCGC	0.358													G|||	1	0.000199681	0	0	5008	,	,		15325	0		0	False		,,,				2504	0.001					uc003uhx.2																			1	Substitution - Missense(1)	p.T4546M(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13636-13638)aCg>aTg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							79	72	74					7																	82508670		1828	4064	5892	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82508670G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13637C>T	7.37:g.82508670G>A	ENSP00000334319:p.Thr4546Met					PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	p.T4546M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			9	13926	-			4440						Missense_Mutation	SNP	ENST00000333891.9	37	c.13637C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873661	0.33069	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.27557	1.66;1.66	4.8	4.8	0.61643	.	.	.	.	.	T	0.41305	0.1153	M	0.75615	2.305	0.80722	D	1	P;P	0.51933	0.949;0.949	B;B	0.44044	0.439;0.439	T	0.53136	-0.8481	9	0.87932	D	0	.	17.8176	0.88639	0.0:0.0:1.0:0.0	.	4546;4546	Q9Y6V0-5;Q9Y6V0-6	.;.	M	4546;4546;42	ENSP00000334319:T4546M;ENSP00000388393:T4546M	ENSP00000334319:T4546M	T	-	2	0	PCLO	82346606	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.787000	0.85759	2.364000	0.80123	0.591000	0.81541	ACG		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82508670	G	A	82508670	3	1	119	1	0	0	0	0	1	0	0	0	11583	1145	40	1	1872	1	PCLO	7	82508670	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		82508670	76629993	37	8161											
CSMD1	64478	broad.mit.edu	37	chr8	4277522	4277522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacagcgaagtctgtcGtgaaccacagagtgaggata	13	7	11	10	2	2	3	1	2	1	1	3	5	2	4	1	1	2	0	1	1	3	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:4277522G>A	ENST00000520002.1	-	3	923	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CSMD1_ENST00000602723.1_Missense_Mutation_p.T123M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T123M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T123M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T123M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T123M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T123M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	123	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCTGTCGTGAACCACAG	0.403																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(367-369)aCg>aTg		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.																																				SO:0001583	missense	64478					integral to membrane		g.chr8:4277522G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.368C>T	8.37:g.4277522G>A	ENSP00000430733:p.Thr123Met						p.T123M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	758	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	123			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.368C>T		.	.	.	.	.	.	.	.	.	.	G	15.09	2.730077	0.48939	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.35	5.35	0.76521	.	.	.	.	.	T	0.54046	0.1834	M	0.61703	1.905	0.40543	D	0.98104	D	0.89917	1.0	D	0.87578	0.998	T	0.54984	-0.8211	9	0.59425	D	0.04	.	16.9053	0.86126	0.0:0.0:1.0:0.0	.	123	E5RIG2	.	M	123	ENSP00000383047:T123M;ENSP00000430733:T123M;ENSP00000441462:T123M;ENSP00000446243:T123M;ENSP00000441675:T123M	ENSP00000383047:T123M	T	-	2	0	CSMD1	4264930	1.000000	0.71417	0.958000	0.39756	0.327000	0.28475	6.932000	0.75869	2.658000	0.90341	0.650000	0.86243	ACG		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	4277522	G	A	4277522	3	1	119	1	0	0	0	0	1	0	0	0	3944	1145	40	1	10411	1	CSMD1	8	4277522	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		4277522	142086500	38	8162											
ADAM7	8756	broad.mit.edu	37	chr8	24357714	24357714	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggccacggactccagtgCcactgtgaggaaggacaggc	10	5	15	11	1	0	1	0	1	0	0	1	5	1	4	3	5	1	0	3	5	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:24357714C>A	ENST00000175238.6	+	18	2030	c.1947C>A	c.(1945-1947)tgC>tgA	p.C649*	ADAM7_ENST00000380789.1_Nonsense_Mutation_p.C649*|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.C421*|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	649	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gaCTCCAGTGCCACTGTGAGG	0.433																																						uc003xeb.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1945-1947)tgC>tgA		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.							69	64	66					8																	24357714		2203	4300	6503	SO:0001587	stop_gained	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24357714C>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1947C>A	8.37:g.24357714C>A	ENSP00000175238:p.Cys649*					ADAM7_uc003xec.3_Nonsense_Mutation_p.C421*	p.C649*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	17	2060	+		Prostate(55;0.0181)	649			Cys-rich.		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	ENST00000175238.6	37	c.1947C>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805452	0.90623	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.19	0.579	0.17397	.	0.000000	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8928	0.29688	0.0:0.5379:0.0:0.4621	.	.	.	.	X	649;649;421;464	.	ENSP00000175238:C649X	C	+	3	2	ADAM7	24413604	0.677000	0.27577	0.272000	0.24630	0.270000	0.26580	0.021000	0.13489	0.257000	0.21650	0.491000	0.48974	TGC		0.433	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24357714	C	A	24357714	4	1	119	1	0	0	0	0	0	1	0	0	251	747	26	5	2017	5	ADAM7	8	24357714	Nonsense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	20080192	24357714	122006308	39	8163											
XKR9	389668	broad.mit.edu	37	chr8	71646034	71646034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttttgttttgtagatgCggccatcatggtctcttgct	5	20	9	7	1	2	1	1	0	1	1	3	1	2	1	1	2	2	3	1	2	1	7	rs140711820		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:71646034C>T	ENST00000408926.3	+	5	1031	c.497C>T	c.(496-498)gCg>gTg	p.A166V	XKR9_ENST00000520030.1_Missense_Mutation_p.A166V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	166						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTGTAGATGCGGCCATCATG	0.308													C|||	1	0.000199681	0	0	5008	,	,		16079	0		0	False		,,,				2504	0.001					uc003xyq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(496-498)gCg>gTg		Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.		C	VAL/ALA	0,4406		0,0,2203	40	37	38		497	0.6	0	8	dbSNP_134	38	1,8595	1.2+/-3.3	0,1,4297	no	missense	XKR9	NM_001011720.1	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	166/374	71646034	1,13001	2203	4298	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646034C>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.497C>T	8.37:g.71646034C>T	ENSP00000386141:p.Ala166Val					XKR9_uc010lzd.3_Missense_Mutation_p.A34V|XKR9_uc010lze.3_Missense_Mutation_p.A166V	p.A166V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	1031	+	Breast(64;0.0716)		166					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.497C>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.200063	0.00296	0.0	1.16E-4	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.61040	0.14;0.14	4.69	0.601	0.17529	.	0.831292	0.11013	N	0.609185	T	0.37019	0.0988	L	0.39514	1.22	0.09310	N	0.999998	P	0.40066	0.701	B	0.32980	0.156	T	0.22836	-1.0205	10	0.02654	T	1	0.4098	8.6569	0.34068	0.0:0.5719:0.0:0.4281	.	166	Q5GH70	XKR9_HUMAN	V	166	ENSP00000386141:A166V;ENSP00000431088:A166V	ENSP00000386141:A166V	A	+	2	0	XKR9	71808588	0.901000	0.30685	0.009000	0.14445	0.006000	0.05464	0.583000	0.23849	-0.006000	0.14370	-0.251000	0.11542	GCG		0.308	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		T	71646034	C	T	71646034	3	4	119	1	0	0	0	0	1	0	0	0	17435	768	27	1	507	1	XKR9	8	71646034	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	47288320	71646034	74717988	40	8164											
GLIS3	169792	broad.mit.edu	37	chr9	4117963	4117963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtacagggcgctgcagtcGatccagcggcagcaatgctt	8	8	13	12	4	0	0	0	0	0	0	3	1	1	0	1	2	5	6	1	2	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:4117963G>A	ENST00000324333.10	-	3	1243	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	GLIS3_ENST00000381971.3_Silent_p.I505I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGCTGCAGTCGATCCAGCGGC	0.667																																						uc003zhx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1513-1515)atC>atT		Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.							75	68	70					9																	4117963		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117963G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1050C>T	9.37:g.4117963G>A						GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zhw.1_Silent_p.I350I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	p.I505I	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	2228	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	350					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.1515C>T	CCDS6451.1																																																																																				0.667	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		A	4117963	G	A	4117963	2	1	119	1	0	0	0	0	0	0	0	1	6447	1048	37	2		2	GLIS3	9	4117963	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08		4117963	137095468	41	8165											
TESK1	7016	broad.mit.edu	37	chr9	35609198	35609198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccccgagctcccccgccGtatggagacagcactgccag	8	5	10	18	3	0	1	0	0	0	1	2	3	2	1	6	1	3	3	6	1	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:35609198G>A	ENST00000336395.5	+	10	1590	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	447					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCCCGCCGTATGGAGACA	0.687																																						uc003zxa.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1339-1341)cGt>cAt		Homo sapiens testis-specific kinase 1 (TESK1), mRNA.							51	60	57					9																	35609198		2203	4296	6499	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609198G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1340G>A	9.37:g.35609198G>A	ENSP00000338127:p.Arg447His					TESK1_uc010mks.3_Missense_Mutation_p.R287H	p.R447H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1676	+			447					Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.1340G>A	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874125	0.51695	.	.	ENSG00000107140	ENST00000336395	T	0.64991	-0.13	5.69	4.79	0.61399	.	0.000000	0.40908	D	0.001000	T	0.49287	0.1548	L	0.34521	1.04	0.27122	N	0.962111	B;B	0.30605	0.287;0.028	B;B	0.16722	0.016;0.004	T	0.51325	-0.8720	10	0.72032	D	0.01	-1.9891	13.3231	0.60444	0.0766:0.0:0.9233:0.0	.	365;447	B4DQQ3;Q15569	.;TESK1_HUMAN	H	447	ENSP00000338127:R447H	ENSP00000338127:R447H	R	+	2	0	TESK1	35599198	0.010000	0.17322	0.990000	0.47175	0.835000	0.47333	1.694000	0.37752	1.394000	0.46624	0.655000	0.94253	CGT		0.687	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		A	35609198	G	A	35609198	3	1	119	1	0	0	0	0	1	0	0	0	15764	1145	40	1	1378	1	TESK1	9	35609198	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	31491235	35609198	105604233	42	8166											
FBP2	8789	broad.mit.edu	37	chr9	97333806	97333806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccagggttgcactacCgtacagcgcataacctgcgg	10	6	11	14	3	0	0	0	0	0	0	0	0	0	0	4	2	7	4	4	2	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:97333806C>T	ENST00000375337.3	-	4	571	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	169					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GTTGCACTACCGTACAGCGCA	0.552																																						uc004auv.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(505-507)Ggt>Agt		Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.							114	94	101					9																	97333806		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333806C>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.505G>A	9.37:g.97333806C>T	ENSP00000364486:p.Gly169Ser						p.G169S	NM_003837	NP_003828	O00757	F16P2_HUMAN			3	572	-		Acute lymphoblastic leukemia(62;0.136)	169					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.505G>A	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.660000	0.88154	.	.	ENSG00000130957	ENST00000375337	D	0.92647	-3.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.96409	0.9303	10	0.87932	D	0	-19.7118	18.8707	0.92313	0.0:1.0:0.0:0.0	.	169	O00757	F16P2_HUMAN	S	169	ENSP00000364486:G169S	ENSP00000364486:G169S	G	-	1	0	FBP2	96373627	1.000000	0.71417	0.933000	0.37362	0.475000	0.33008	7.585000	0.82584	2.451000	0.82905	0.557000	0.71058	GGT		0.552	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		T	97333806	C	T	97333806	3	4	119	1	0	0	0	0	1	0	0	0	5706	652	23	2	530	2	FBP2	9	97333806	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	61724608	97333806	43879625	43	8167											
USP20	10868	broad.mit.edu	37	chr9	132638480	132638480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggagatcgaggcactggCcaagcgcaggaggatcgaga	11	4	18	8	3	0	2	0	0	0	2	2	7	0	4	1	6	1	2	1	6	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:132638480C>T	ENST00000315480.4	+	22	2530	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	USP20_ENST00000358355.1_Missense_Mutation_p.A791V|USP20_ENST00000372429.3_Missense_Mutation_p.A791V			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	791	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGGCACTGGCCAAGCGCAGG	0.677																																						uc004bys.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2371-2373)gCc>gTc		Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.							29	32	31					9																	132638480		2081	4210	6291	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132638480C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2372C>T	9.37:g.132638480C>T	ENSP00000313811:p.Ala791Val					USP20_uc004byr.2_Missense_Mutation_p.A791V|USP20_uc004byt.1_Missense_Mutation_p.A791V	p.A791V	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN			21	2583	+		Ovarian(14;0.00556)	791			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2372C>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886192	0.91814	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19105	2.17;2.17;2.17	5.78	5.78	0.91487	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.02004	-1.1231	10	0.40728	T	0.16	.	19.0093	0.92867	0.0:1.0:0.0:0.0	.	791	Q9Y2K6	UBP20_HUMAN	V	791	ENSP00000361506:A791V;ENSP00000313811:A791V;ENSP00000351122:A791V	ENSP00000313811:A791V	A	+	2	0	USP20	131678301	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.660000	0.68018	2.741000	0.93983	0.555000	0.69702	GCC		0.677	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132638480	C	T	132638480	3	4	119	1	0	0	0	0	1	0	0	0	17049	739	26	3	2450	3	USP20	9	132638480	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	35304674	132638480	8574951	44	8168											
CUBN	8029	broad.mit.edu	37	chr10	17146591	17146591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcacacttacaaaaataaCcagagacagtgtcctaaggg	17	7	8	9	0	1	1	1	0	0	1	2	2	2	1	2	1	2	0	2	1	5	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:17146591C>T	ENST00000377833.4	-	12	1309	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	415	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAAATAACCAGAGACAGT	0.373																																						uc001ioo.3																			0		p.G415G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1243-1245)gGt>gAt		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						71	57	61					10																	17146591		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17146591C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1244G>A	10.37:g.17146591C>T	ENSP00000367064:p.Gly415Asp						p.G415D	NM_001081	NP_001072	O60494	CUBN_HUMAN			11	1296	-			415			EGF-like 6.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1244G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710194	0.89018	.	.	ENSG00000107611	ENST00000377833	D	0.91631	-2.88	5.45	5.45	0.79879	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.147332	0.31809	N	0.007031	D	0.94716	0.8295	L	0.52266	1.64	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.94974	0.8119	10	0.72032	D	0.01	.	19.2841	0.94063	0.0:1.0:0.0:0.0	.	415	O60494	CUBN_HUMAN	D	415	ENSP00000367064:G415D	ENSP00000367064:G415D	G	-	2	0	CUBN	17186597	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.741000	0.84997	2.575000	0.86900	0.655000	0.94253	GGT		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	17146591	C	T	17146591	3	4	119	1	0	0	0	0	1	0	0	0	4051	507	18	3	9851	3	CUBN	10	17146591	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		17146591	118388156	45	8169											
TMEM26	219623	broad.mit.edu	37	chr10	63170497	63170497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacacagggcacacaacGttctgtactgaaaacacaag	17	5	8	11	1	1	2	0	1	1	1	1	2	1	2	0	1	3	3	0	1	5	2	rs201322680		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:63170497G>T	ENST00000399298.3	-	6	1058	c.690C>A	c.(688-690)aaC>aaA	p.N230K	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	230						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGCACACAACGTTCTGTACTG	0.473																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(688-690)aaC>aaA		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.							39	41	41					10																	63170497		2023	4184	6207	SO:0001583	missense	219623					integral to membrane		g.chr10:63170497G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.690C>A	10.37:g.63170497G>T	ENSP00000382237:p.Asn230Lys					TMEM26_uc001jlp.1_Non-coding_Transcript	p.N230K	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			5	1059	-	Prostate(12;0.0112)		230					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.690C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	2.198	-0.383758	0.04966	.	.	ENSG00000196932	ENST00000399298	.	.	.	6.17	-7.85	0.01192	.	0.743369	0.13049	N	0.417897	T	0.10809	0.0264	N	0.05306	-0.075	0.27950	N	0.937166	B	0.24258	0.1	B	0.29785	0.107	T	0.29397	-1.0013	9	0.02654	T	1	-5.0638	5.4179	0.16384	0.3615:0.1006:0.436:0.102	.	230	Q6ZUK4	TMM26_HUMAN	K	230	.	ENSP00000382237:N230K	N	-	3	2	TMEM26	62840503	0.037000	0.19845	0.000000	0.03702	0.002000	0.02628	0.057000	0.14279	-1.626000	0.01552	-1.202000	0.01658	AAC		0.473	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		T	63170497	G	T	63170497	3	4	119	1	0	0	0	0	1	0	0	0	16148	1136	40	5	420	5	TMEM26	10	63170497	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	46023906	63170497	72364250	46	8170											
PTEN	5728	broad.mit.edu	37	chr10	89725042	89725042	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttaaattttctttctctAggtgaagctgtacttcacaa	11	18	5	7	0	3	1	1	1	2	0	4	1	3	1	0	1	2	2	0	1	6	8			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:89725042A>G	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCTTTCTCTAGGTGAAGCTG	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(8)|Deletion - In frame(1)	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CS090868	PTEN	S		c.e9-2		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							42	39	40					10																	89725042		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725042A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1A>G	10.37:g.89725042A>G		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.V343_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2059	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	343		V -> E (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.1027_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749955	0.49257	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6156	0.76764	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715022	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	8.915000	0.92740	2.142000	0.66516	0.477000	0.44152	.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	G	89725042	A	G	89725042	5	3	119	1	0	0	0	0	0	0	1	0	12738	434	15	4	1059	4	PTEN	10	89725042	Splice_Site	SNP	A	TCGA-12-3649-01A-01D-1495-08	26554545	89725042	45809705	47	8171											
CHRNA10	57053	broad.mit.edu	37	chr11	3687643	3687643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccctctttcccgcacGcacaggccccgtgccaggtg	4	7	11	19	3	1	0	0	0	1	0	3	0	3	0	6	3	1	3	6	3	0	1	rs555234421		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:3687643G>A	ENST00000250699.2	-	5	1118	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	349					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	TTTCCCGCACGCACAGGCCCC	0.667													G|||	1	0.000199681	0	0	5008	,	,		17310	0.001		0	False		,,,				2504	0				Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1045-1047)tgC>tgT		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						55	57	56					11																	3687643		2201	4297	6498	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687643G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1047C>T	11.37:g.3687643G>A						CHRNA10_uc010qxt.2_Silent_p.C143C|CHRNA10_uc010qxu.2_Silent_p.C143C	p.C349C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	1119	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	349						Silent	SNP	ENST00000250699.2	37	c.1047C>T	CCDS7745.1																																																																																				0.667	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			A	3687643	G	A	3687643	2	1	119	1	0	0	0	0	0	0	0	1	3382	1079	38	1		1	CHRNA10	11	3687643	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08		3687643	131318873	48	8172											
OR52I2	143502	broad.mit.edu	37	chr11	4608268	4608268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggaaacaccatcatcGtgactgcaatctggatggat	12	11	10	8	1	2	1	1	1	1	0	3	4	2	4	1	3	2	2	1	3	3	1	rs138555035		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4608268G>A	ENST00000312614.4	+	1	248	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCATCATCGTGACTGCAAT	0.507																																						uc010qyh.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(226-228)Gtg>Atg		Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.		G	MET/VAL	0,4402		0,0,2201	247	222	231		226	-4.7	0	11	dbSNP_134	231	1,8589		0,1,4294	no	missense	OR52I2	NM_001005170.2	21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	76/351	4608268	1,12991	2201	4295	6496	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608268G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.226G>A	11.37:g.4608268G>A	ENSP00000308764:p.Val76Met						p.V76M	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	248	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	76					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.226G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	0.549	-0.850047	0.02651	0.0	1.16E-4	ENSG00000226288	ENST00000312614	T	0.01113	5.32	4.1	-4.66	0.03329	GPCR, rhodopsin-like superfamily (1);	1.081290	0.07159	N	0.850423	T	0.00580	0.0019	N	0.04245	-0.25	0.09310	N	1	P	0.35959	0.53	B	0.21708	0.036	T	0.50816	-0.8783	10	0.66056	D	0.02	-1.2646	7.4112	0.27019	0.3694:0.1857:0.445:0.0	.	76	Q8NH67	O52I2_HUMAN	M	76	ENSP00000308764:V76M	ENSP00000308764:V76M	V	+	1	0	OR52I2	4564844	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-3.393000	0.00486	-0.415000	0.07484	-0.498000	0.04607	GTG		0.507	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		A	4608268	G	A	4608268	3	1	119	1	0	0	0	0	1	0	0	0	11121	1145	40	1	228	1	OR52I2	11	4608268	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	920625	4608268	130398248	49	8173											
OR52I1	390037	broad.mit.edu	37	chr11	4615416	4615416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggaaacaccctcatcGtgactgcaatctggatggat	11	11	10	9	1	2	1	1	1	1	0	3	4	2	4	1	3	2	2	1	3	3	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4615416G>A	ENST00000530443.2	+	1	148	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	OR52I1_ENST00000450052.2_Missense_Mutation_p.V74M	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCTCATCGTGACTGCAAT	0.517																																						uc010qyi.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(148-150)Gtg>Atg		Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.							179	141	154					11																	4615416		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615416G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.148G>A	11.37:g.4615416G>A	ENSP00000436453:p.Val50Met						p.V50M	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	148	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	50					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.148G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	2.015	-0.426122	0.04701	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.01113	5.32;5.32	4.92	-9.84	0.00479	GPCR, rhodopsin-like superfamily (1);	1.081290	0.07159	N	0.850423	T	0.00695	0.0023	N	0.11000	0.08	0.21105	N	0.999784	B	0.19935	0.04	B	0.14023	0.01	T	0.50516	-0.8819	9	0.62326	D	0.03	-1.2646	7.3542	0.26709	0.3156:0.0892:0.5069:0.0883	.	50	Q8NGK6	O52I1_HUMAN	M	74;50	ENSP00000409094:V74M;ENSP00000436453:V50M	ENSP00000409094:V74M	V	+	1	0	OR52I1	4571992	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	-4.678000	0.00199	-2.412000	0.00570	-1.254000	0.01491	GTG		0.517	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		A	4615416	G	A	4615416	3	1	119	1	0	0	0	0	1	0	0	0	11120	1145	40	1	150	1	OR52I1	11	4615416	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	7148	4615416	130391100	50	8174											
OR52H1	390067	broad.mit.edu	37	chr11	5566723	5566723	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtaactgctcaggtTgaaaatgatcatggcagagg	12	11	13	5	0	2	3	2	2	0	1	2	4	2	4	0	4	2	4	0	4	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5566723T>G	ENST00000322653.4	-	1	56	c.31A>C	c.(31-33)Aac>Cac	p.N11H	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCAGGTTGAAAATGATC	0.443																																						uc010qzh.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(31-33)Aac>Cac		Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.							93	90	91					11																	5566723		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566723T>G	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.31A>C	11.37:g.5566723T>G	ENSP00000326259:p.Asn11His					HBG1_uc001mak.1_Intron	p.N11H	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	31	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	11					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.31A>C	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642351	0.47153	.	.	ENSG00000181616	ENST00000322653	T	0.64618	-0.11	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	D	0.83843	0.5342	H	0.94698	3.57	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79376	-0.1829	10	0.87932	D	0	.	13.0276	0.58825	0.0:0.0:0.0:1.0	.	11	Q8NGJ2	O52H1_HUMAN	H	11	ENSP00000326259:N11H	ENSP00000326259:N11H	N	-	1	0	OR52H1	5523299	0.915000	0.31059	0.419000	0.26584	0.841000	0.47740	2.078000	0.41567	1.969000	0.57287	0.533000	0.62120	AAC		0.443	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		G	5566723	T	G	5566723	3	3	119	1	0	0	0	0	1	0	0	0	11119	1812	63	5	934	5	OR52H1	11	5566723	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	951307	5566723	129439793	51	8175											
TRIM6	117854	broad.mit.edu	37	chr11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctagacagagtggagcaaCgggagctgaaaaagctggaa	15	5	14	7	1	0	3	0	1	0	2	1	6	1	6	1	3	4	3	1	3	5	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5626645C>T	ENST00000278302.5	+	4	738	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	TRIM6_ENST00000515022.1_Missense_Mutation_p.R25W|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R228W|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.R25W|TRIM6_ENST00000380107.1_Missense_Mutation_p.R174W|TRIM6_ENST00000380097.3_Missense_Mutation_p.R228W|TRIM6_ENST00000507320.1_Missense_Mutation_p.R25W|TRIM6_ENST00000445329.1_Missense_Mutation_p.R25W	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	200					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(682-684)Cgg>Tgg		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							91	94	93					11																	5626645		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5626645C>T	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.598C>T	11.37:g.5626645C>T	ENSP00000278302:p.Arg200Trp		OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R174W|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R200W|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R228W|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.R25W	p.R228W	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	3	945	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	228					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.682C>T	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379592	0.61845	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.30448	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;1.53	4.87	3.96	0.45880	.	.	.	.	.	T	0.57373	0.2049	M	0.86028	2.79	0.23150	N	0.998211	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.917;0.949;0.999;0.998	T	0.49031	-0.8981	9	0.87932	D	0	.	9.7352	0.40384	0.0:0.9015:0.0:0.0985	.	25;174;228;228;200	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	W	200;25;25;174;228;25;107;25;25;228;228	ENSP00000278302:R200W;ENSP00000414108:R25W;ENSP00000427704:R25W;ENSP00000369450:R174W;ENSP00000369440:R228W;ENSP00000399215:R25W;ENSP00000421802:R25W;ENSP00000421079:R25W;ENSP00000346916:R228W	ENSP00000278302:R200W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5583221	0.022000	0.18835	0.986000	0.45419	0.775000	0.43874	0.218000	0.17622	1.380000	0.46344	0.655000	0.94253	CGG		0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		T	5626645	C	T	5626645	3	4	119	1	0	0	0	0	1	0	0	0	16530	527	19	1	696	1	TRIM6	11	5626645	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	59922	5626645	129379871	52	8176											
TRIM6	117854	broad.mit.edu	37	chr11	5631406	5631406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccctgaggaagccagaaGctctccctacaaagctgaga	13	5	11	12	0	1	3	0	2	1	2	2	6	1	5	3	2	4	2	3	2	4	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5631406G>A	ENST00000278302.5	+	6	945	c.805G>A	c.(805-807)Gct>Act	p.A269T	TRIM6_ENST00000515022.1_Missense_Mutation_p.A94T|TRIM6_ENST00000481603.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.A297T|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.A94T|TRIM6_ENST00000380107.1_Missense_Mutation_p.A243T|TRIM6_ENST00000380097.3_Missense_Mutation_p.A297T|TRIM6_ENST00000507320.1_Missense_Mutation_p.A94T|TRIM6_ENST00000445329.1_Missense_Mutation_p.A94T	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	269					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAGCCAGAAGCTCTCCCTAC	0.517																																						uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(889-891)Gct>Act		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							98	100	99					11																	5631406		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5631406G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.805G>A	11.37:g.5631406G>A	ENSP00000278302:p.Ala269Thr					HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.A243T|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.A269T|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.A297T|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.A94T	p.A297T	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	5	1152	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	297					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.889G>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	4.045	0.006028	0.07866	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.09	0.689	0.18033	.	.	.	.	.	T	0.02649	0.0080	L	0.28608	0.87	0.09310	N	1	B;B;B;P;B	0.34724	0.22;0.007;0.028;0.465;0.22	B;B;B;B;B	0.28011	0.039;0.016;0.015;0.085;0.039	T	0.37361	-0.9709	9	0.05525	T	0.97	.	6.521	0.22275	0.4688:0.0:0.5312:0.0	.	94;243;297;297;269	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	T	269;94;94;243;297;94;176;94;94;297;297	ENSP00000278302:A269T;ENSP00000414108:A94T;ENSP00000427704:A94T;ENSP00000369450:A243T;ENSP00000369440:A297T;ENSP00000399215:A94T;ENSP00000421802:A94T;ENSP00000421079:A94T;ENSP00000346916:A297T	ENSP00000278302:A269T	A	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5587982	0.619000	0.27059	0.040000	0.18447	0.986000	0.74619	0.431000	0.21444	0.243000	0.21327	0.563000	0.77884	GCT		0.517	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		A	5631406	G	A	5631406	3	1	119	1	0	0	0	0	1	0	0	0	16530	971	34	3	911	3	TRIM6	11	5631406	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	4761	5631406	129375110	53	8177											
MTNR1B	4544	broad.mit.edu	37	chr11	92714701	92714701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggccatcttctatgaCggctgggccctgggggagga	5	9	16	11	2	2	1	0	1	2	0	3	3	2	3	2	6	0	1	2	6	1	2	rs139515067		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:92714701C>T	ENST00000257068.2	+	2	318	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	104					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.D104D(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCTTCTATGACGGCTGGGCCC	0.567																																						uc001pdk.1																			2	Substitution - coding silent(2)	p.D104D(4)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(310-312)gaC>gaT		Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	Ramelteon(DB00980)	C		0,4402		0,0,2201	171	168	169		312	-7.9	0	11	dbSNP_134	169	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MTNR1B	NM_005959.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		104/363	92714701	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714701C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.312C>T	11.37:g.92714701C>T							p.D104D	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	415	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	104						Silent	SNP	ENST00000257068.2	37	c.312C>T	CCDS8290.1																																																																																				0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			T	92714701	C	T	92714701	2	4	119	1	0	0	0	0	0	0	0	1	9952	535	19	1		1	MTNR1B	11	92714701	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	87083295	92714701	42291815	54	8178											
OR8A1	390275	broad.mit.edu	37	chr11	124440668	124440668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagttcttgtttcttacaCcttcattctctccagcatcc	8	16	3	14	0	4	0	1	0	3	0	7	0	6	0	3	0	3	3	3	0	2	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:124440668C>A	ENST00000284287.3	+	1	776	c.704C>A	c.(703-705)aCc>aAc	p.T235N		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	235					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTTCTTACACCTTCATTCTC	0.493																																						uc010san.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(703-705)aCc>aAc		Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.							114	109	111					11																	124440668		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440668C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.704C>A	11.37:g.124440668C>A	ENSP00000284287:p.Thr235Asn						p.T235N	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	0	704	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	235					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.704C>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	4.333	0.061271	0.08339	.	.	ENSG00000196119	ENST00000284287	T	0.00158	8.65	5.03	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.486119	0.16754	N	0.200918	T	0.00241	0.0007	M	0.81112	2.525	0.09310	N	1	B	0.18166	0.026	B	0.33799	0.17	T	0.27806	-1.0063	10	0.59425	D	0.04	.	7.198	0.25864	0.0:0.5395:0.0:0.4605	.	235	Q8NGG7	OR8A1_HUMAN	N	235	ENSP00000284287:T235N	ENSP00000284287:T235N	T	+	2	0	OR8A1	123945878	0.000000	0.05858	0.910000	0.35882	0.166000	0.22503	-0.633000	0.05483	0.309000	0.22966	-0.143000	0.13931	ACC		0.493	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		A	124440668	C	A	124440668	3	1	119	1	0	0	0	0	1	0	0	0	11225	507	18	5	706	5	OR8A1	11	124440668	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	31725967	124440668	10565848	55	8179											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436597	19436597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggatactcccctcaacGaacttacagatcggaagtgt	12	9	9	11	2	2	1	2	0	0	1	4	4	3	3	2	2	4	0	2	2	5	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:19436597G>A	ENST00000299275.6	+	11	1685	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R452Q|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R452Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R318Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R566Q	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	560					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCCCTCAACGAACTTACAGA	0.468																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.3																			0		p.Q559K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1678-1680)cGa>cAa		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.							68	68	68					12																	19436597		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436597G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1679G>A	12.37:g.19436597G>A	ENSP00000299275:p.Arg560Gln					PLEKHA5_uc010sie.2_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.3_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.3_Missense_Mutation_p.R318Q|PLEKHA5_uc010sig.2_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	p.R560Q	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			10	1787	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		560					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1679G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859203	0.71834	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	3.84	3.84	0.44239	.	0.136415	0.49916	D	0.000132	T	0.43233	0.1238	M	0.86740	2.835	0.43360	D	0.995431	P;D;D;D;D;D;D	0.89917	0.929;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D	0.91635	0.54;0.999;0.997;0.996;0.99;0.997;0.999	T	0.55673	-0.8104	10	0.72032	D	0.01	-7.7227	16.3276	0.82990	0.0:0.0:1.0:0.0	.	560;452;452;566;566;560;560	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	Q	560;560;560;567;560;566;560;318;560;452;452;452	ENSP00000325155:R560Q;ENSP00000347560:R560Q;ENSP00000352104:R560Q;ENSP00000311239:R560Q;ENSP00000404296:R566Q;ENSP00000299275:R560Q;ENSP00000440611:R318Q;ENSP00000439673:R560Q;ENSP00000400411:R452Q;ENSP00000439837:R452Q;ENSP00000440371:R452Q	ENSP00000299275:R560Q	R	+	2	0	PLEKHA5	19327864	1.000000	0.71417	0.673000	0.29887	0.356000	0.29392	6.775000	0.75018	2.132000	0.65825	0.655000	0.94253	CGA		0.468	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		A	19436597	G	A	19436597	3	1	119	1	0	0	0	0	1	0	0	0	12059	1058	37	2	1721	2	PLEKHA5	12	19436597	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		19436597	114415298	56	8180											
ZFC3H1	196441	broad.mit.edu	37	chr12	72030416	72030416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggaggtgaaggtgggtCactattactggatgtttcct	9	13	13	6	0	1	1	1	1	0	0	2	3	2	3	1	5	2	1	1	5	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:72030416C>G	ENST00000378743.3	-	9	2312	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	652					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGGTGGGTCACTATTACTG	0.363																																						uc001swo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1954-1956)Gac>Cac		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							159	146	150					12																	72030416		1891	4114	6005	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030416C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1954G>C	12.37:g.72030416C>G	ENSP00000368017:p.Asp652His						p.D652H	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			8	2313	-			652					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1954G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621824	0.28889	.	.	ENSG00000133858	ENST00000378743	T	0.33216	1.42	5.16	5.16	0.70880	.	0.389674	0.23760	N	0.044830	T	0.15825	0.0381	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06991	-1.0796	10	0.38643	T	0.18	.	14.2757	0.66179	0.0:0.8512:0.1488:0.0	.	652	O60293	ZC3H1_HUMAN	H	652	ENSP00000368017:D652H	ENSP00000368017:D652H	D	-	1	0	ZFC3H1	70316683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.038000	0.49783	2.400000	0.81607	0.467000	0.42956	GAC		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		G	72030416	C	G	72030416	3	3	119	1	0	0	0	0	1	0	0	0	17630	826	29	5	4123	5	ZFC3H1	12	72030416	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	52593819	72030416	61821479	57	8181											
C12orf50	160419	broad.mit.edu	37	chr12	88388465	88388466	+	Frame_Shift_Del	DEL	TA	TA	-																															ttcccatgcaatgatgttttTatttcaccttgcctttcata																										TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:88388465_88388466delTA	ENST00000298699.2	-	7	716_717	c.536_537delTA	c.(535-537)atafs	p.I179fs	C12orf50_ENST00000550553.1_Frame_Shift_Del_p.I179fs	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	179										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGATGTTTTTATTTCACCTTG	0.347																																						uc001tam.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(535-537)atafs		Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.																																				SO:0001589	frameshift_variant	160419							g.chr12:88388465_88388466delTA	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.536_537delTA	12.37:g.88388465_88388466delTA	ENSP00000298699:p.Ile179fs					C12orf50_uc001tan.3_Frame_Shift_Del_p.I233fs	p.I179fs	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			6	704_705	-			179					Q6P674	Frame_Shift_Del	DEL	ENST00000298699.2	37	c.536_537delTA	CCDS9031.1																																																																																				0.347	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		-	88388466	TA	-	88388465	7	5	119	1	0	1	0	1	0	0	0	0	1695	1744	61	0	735	0	C12orf50	12	88388465	Frame_Shift_Del	DEL	TA	TCGA-12-3649-01A-01D-1495-08	16358049	88388465	45463430	58	8182											
CCDC60	160777	broad.mit.edu	37	chr12	119966451	119966451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtatccagaagttcCgtgcttttgtccttgtctca	8	14	10	9	1	1	2	1	0	1	2	5	3	4	2	3	1	1	3	3	1	2	5	rs370439015		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:119966451C>T	ENST00000327554.2	+	12	1726	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	421										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGAAGTTCCGTGCTTTTGT	0.428																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1261-1263)Cgt>Tgt		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.		C	CYS/ARG	0,4406		0,0,2203	193	181	185		1261	1.2	0.3	12		185	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC60	NM_178499.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	421/551	119966451	2,13004	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119966451C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1261C>T	12.37:g.119966451C>T	ENSP00000333374:p.Arg421Cys					AF086288_uc001txf.3_Intron	p.R421C	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	11	1726	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		421						Missense_Mutation	SNP	ENST00000327554.2	37	c.1261C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379443	0.11466	0.0	2.33E-4	ENSG00000183273	ENST00000327554	T	0.24151	1.87	5.42	1.17	0.20885	.	1.273790	0.05496	N	0.557592	T	0.17874	0.0429	N	0.19112	0.55	0.28033	N	0.934051	P	0.50443	0.935	P	0.44732	0.459	T	0.13899	-1.0492	9	.	.	.	-0.7477	3.7232	0.08465	0.3205:0.464:0.1329:0.0825	.	421	Q8IWA6	CCD60_HUMAN	C	421	ENSP00000333374:R421C	.	R	+	1	0	CCDC60	118450834	0.164000	0.22935	0.297000	0.24988	0.062000	0.15995	0.300000	0.19156	0.188000	0.20168	-0.194000	0.12790	CGT		0.428	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		T	119966451	C	T	119966451	3	4	119	1	0	0	0	0	1	0	0	0	2831	652	23	2	1307	2	CCDC60	12	119966451	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	31577986	119966451	13885444	59	8183											
GCN1L1	10985	broad.mit.edu	37	chr12	120599767	120599767	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtcaccaggcgcagtgcAgggttctgcacggaggcagt	7	6	16	12	4	2	0	1	0	1	0	2	1	2	1	1	4	2	5	1	4	0	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:120599767A>T	ENST00000300648.6	-	21	2271	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	753					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGCAGTGCAGGGTTCTGCA	0.592																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2257-2259)ccT>ccA		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							66	75	72					12																	120599767		2176	4271	6447	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599767A>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2259T>A	12.37:g.120599767A>T							p.P753P	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			20	2272	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		753					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2259T>A	CCDS41847.1																																																																																				0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120599767	A	T	120599767	2	4	119	1	0	0	0	0	0	0	0	1	6299	175	7	5		5	GCN1L1	12	120599767	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	633316	120599767	13252128	60	8184											
TUBA3C	7278	broad.mit.edu	37	chr13	19751200	19751200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgtacttgccgtggCgagggtcacacttgaccatc	8	9	12	12	2	1	1	1	1	0	0	2	2	1	1	3	3	2	1	3	3	1	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:19751200C>T	ENST00000400113.3	-	4	1027	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	308					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCGTGGCGAGGGTCACA	0.587																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(922-924)cGc>cAc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							170	145	153					13																	19751200		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751200C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.923G>A	13.37:g.19751200C>T	ENSP00000382982:p.Arg308His						p.R308H	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	1028	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	308					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.923G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	6.615	0.481871	0.12581	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.82893	-1.66	1.21	0.297	0.15762	.	0.000000	0.47852	U	0.000214	D	0.83050	0.5170	.	.	.	0.39964	D	0.974709	.	.	.	.	.	.	T	0.79928	-0.1596	7	0.87932	D	0	.	5.6914	0.17831	0.0:0.7927:0.0:0.2073	.	.	.	.	H	308	ENSP00000382982:R308H	ENSP00000354037:R308H	R	-	2	0	TUBA3C	18649200	1.000000	0.71417	0.838000	0.33150	0.482000	0.33219	4.655000	0.61476	0.076000	0.16826	0.184000	0.17185	CGC		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751200	C	T	19751200	3	4	119	1	0	0	0	0	1	0	0	0	16743	768	27	1	437	1	TUBA3C	13	19751200	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		19751200	95418678	61	8185											
KLHL1	57626	broad.mit.edu	37	chr13	70681808	70681808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgcttcacatcgaaGtcttttcgcccagagcctga	10	11	9	11	2	2	3	1	1	1	2	4	4	2	3	2	0	2	1	2	0	2	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:70681808G>T	ENST00000377844.4	-	1	783	c.24C>A	c.(22-24)gaC>gaA	p.D8E	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	8					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCACATCGAAGTCTTTTCGCC	0.632																																						uc001vip.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(22-24)gaC>gaA		Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.							21	23	22					13																	70681808		2202	4298	6500	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681808G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.24C>A	13.37:g.70681808G>T	ENSP00000367075:p.Asp8Glu					KLHL1_uc010thm.2_Missense_Mutation_p.D8E|ATXN8OS_uc010aej.1_Non-coding_Transcript	p.D8E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	0	818	-		Breast(118;0.000162)	8					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.24C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208707	0.39003	.	.	ENSG00000150361	ENST00000377844	T	0.65178	-0.14	5.28	3.52	0.40303	.	0.000000	0.56097	D	0.000038	T	0.39306	0.1073	N	0.17082	0.46	0.80722	D	1	B;B	0.17268	0.01;0.021	B;B	0.17098	0.017;0.008	T	0.24261	-1.0165	10	0.02654	T	1	.	10.7839	0.46395	0.1514:0.0:0.8486:0.0	.	8;8	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	E	8	ENSP00000367075:D8E	ENSP00000367075:D8E	D	-	3	2	KLHL1	69579809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.065000	0.30592	0.568000	0.29311	0.655000	0.94253	GAC		0.632	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		T	70681808	G	T	70681808	3	4	119	1	0	0	0	0	1	0	0	0	8365	1020	36	5	2266	5	KLHL1	13	70681808	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	50930608	70681808	44488070	62	8186											
CLN5	1203	broad.mit.edu	37	chr13	77570066	77570066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgccattggattcagAagtacattaactggcaagaa	15	10	9	7	0	1	3	1	1	0	2	1	4	1	4	1	2	3	2	1	2	5	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:77570066A>G	ENST00000377453.3	+	3	1808	c.516A>G	c.(514-516)agA>agG	p.R172R	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	123					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGATTCAGAAGTACATTAA	0.413																																						uc001vkc.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(514-516)agA>agG		Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.							171	143	153					13																	77570066		2203	4300	6503	SO:0001819	synonymous_variant	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570066A>G		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.516A>G	13.37:g.77570066A>G							p.R172R	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	2	544	+		Acute lymphoblastic leukemia(28;0.205)	123					B3KQK7	Silent	SNP	ENST00000377453.3	37	c.516A>G	CCDS9456.1																																																																																				0.413	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		G	77570066	A	G	77570066	2	3	119	1	0	0	0	0	0	0	0	1	3544	243	9	4		4	CLN5	13	77570066	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	6888258	77570066	37599812	63	8187											
SUPT16H	11198	broad.mit.edu	37	chr14	21822688	21822688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccttctgtgtatttcAggtcgcaggaactaagagaa	11	12	10	8	1	2	1	1	0	1	1	4	3	3	2	1	2	2	3	1	2	5	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:21822688A>G	ENST00000216297.2	-	23	3010	c.2672T>C	c.(2671-2673)cTg>cCg	p.L891P		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	891					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGTATTTCAGGTCGCAGGA	0.403																																						uc001wao.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2671-2673)cTg>cCg		Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.							104	89	94					14																	21822688		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21822688A>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2672T>C	14.37:g.21822688A>G	ENSP00000216297:p.Leu891Pro					SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	p.L891P	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	3011	-	all_cancers(95;0.00115)		891					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2672T>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488216	0.84854	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	Domain of unknown function DUF1747, eukaryote (1);	0.071032	0.53938	D	0.000043	T	0.65186	0.2667	L	0.47190	1.495	0.80722	D	1	P	0.46457	0.878	P	0.54210	0.745	T	0.68108	-0.5496	9	0.87932	D	0	-5.9741	15.1141	0.72388	1.0:0.0:0.0:0.0	.	891	Q9Y5B9	SP16H_HUMAN	P	891	.	ENSP00000216297:L891P	L	-	2	0	SUPT16H	20892528	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	8.314000	0.89980	2.212000	0.71576	0.524000	0.50904	CTG		0.403	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			G	21822688	A	G	21822688	3	3	119	1	0	0	0	0	1	0	0	0	15393	188	7	4	487	4	SUPT16H	14	21822688	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08		21822688	85526852	64	8188											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055814	72055814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagatgataaaagcaatGagcttgtaatgagctgtcca	15	9	12	5	0	0	4	0	3	0	1	1	5	1	4	1	1	3	4	1	1	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:72055814G>A	ENST00000555818.1	+	2	1573	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E409K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E409K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	409					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TAAAAGCAATGAGCTTGTAAT	0.458																																						uc001xms.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1225-1227)Gag>Aag		Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.							97	96	97					14																	72055814		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055814G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1225G>A	14.37:g.72055814G>A	ENSP00000450832:p.Glu409Lys					SIPA1L1_uc001xmt.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E409K	p.E409K	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	1	1586	+			409					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1225G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189003	0.57909	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.77229	-1.08;-1.08;-1.08	5.88	5.88	0.94601	.	0.195983	0.53938	D	0.000047	T	0.75568	0.3867	L	0.49126	1.545	0.80722	D	1	B;P;B	0.37824	0.003;0.609;0.083	B;B;B	0.35182	0.013;0.197;0.027	T	0.77453	-0.2582	10	0.72032	D	0.01	-20.1876	20.2187	0.98312	0.0:0.0:1.0:0.0	.	409;409;409	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	K	409	ENSP00000370630:E409K;ENSP00000450832:E409K;ENSP00000351352:E409K	ENSP00000351352:E409K	E	+	1	0	SIPA1L1	71125567	1.000000	0.71417	0.789000	0.31954	0.824000	0.46624	6.656000	0.74396	2.780000	0.95670	0.655000	0.94253	GAG		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72055814	G	A	72055814	3	1	119	1	0	0	0	0	1	0	0	0	14329	1291	45	3	1227	3	SIPA1L1	14	72055814	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	50233126	72055814	35293726	65	8189											
C14orf115	55237	broad.mit.edu	37	chr14	74823988	74823988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcctcctgtttccccAgcagcttctccaacgtgtgg	6	11	9	15	1	2	0	1	0	1	0	5	0	4	0	5	2	3	3	5	2	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:74823988A>G	ENST00000256362.4	+	2	743	c.502A>G	c.(502-504)Agc>Ggc	p.S168G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	168					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGTTTCCCCAGCAGCTTCTC	0.597																																						uc021rwl.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(502-504)Agc>Ggc		Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.							113	107	109					14																	74823988		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823988A>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.502A>G	14.37:g.74823988A>G	ENSP00000256362:p.Ser168Gly					VRTN_uc001xpw.4_Missense_Mutation_p.S168G	p.S168G	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN			0	502	+			168					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.502A>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	0.855	-0.737251	0.03111	.	.	ENSG00000133980	ENST00000256362	T	0.43688	0.94	5.05	3.89	0.44902	.	0.482209	0.21560	N	0.072588	T	0.12689	0.0308	N	0.02539	-0.55	0.22858	N	0.998641	B	0.02656	0.0	B	0.04013	0.001	T	0.36939	-0.9727	10	0.02654	T	1	-0.2144	3.9664	0.09433	0.7938:0.0:0.2062:0.0	.	168	Q9H8Y1	VRTN_HUMAN	G	168	ENSP00000256362:S168G	ENSP00000256362:S168G	S	+	1	0	VRTN	73893741	1.000000	0.71417	0.218000	0.23776	0.044000	0.14063	6.777000	0.75028	2.123000	0.65237	0.459000	0.35465	AGC		0.597	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		G	74823988	A	G	74823988	3	3	119	1	0	0	0	0	1	0	0	0	1740	188	7	4	504	4	C14orf115	14	74823988	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	2768174	74823988	32525552	66	8190											
CALM1	801	broad.mit.edu	37	chr14	90870850	90870850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatggagacggacaagtcaActatgaaggtaaaactaaat	18	8	10	5	1	1	3	1	2	0	1	1	5	1	4	0	3	2	1	0	3	8	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:90870850A>G	ENST00000356978.4	+	5	661	c.413A>G	c.(412-414)aAc>aGc	p.N138S	CALM1_ENST00000553542.1_Missense_Mutation_p.N102S|CALM1_ENST00000447653.3_Missense_Mutation_p.N139S|CALM1_ENST00000544280.2_Missense_Mutation_p.N102S|RP11-471B22.2_ENST00000555853.1_RNA	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	138	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GGACAAGTCAACTATGAAGGT	0.383																																						uc001xyl.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10						c.(412-414)aAc>aGc		Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						124	119	121					14																	90870850		2203	4300	6503	SO:0001583	missense	801				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr14:90870850A>G		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.413A>G	14.37:g.90870850A>G	ENSP00000349467:p.Asn138Ser					CALM1_uc010atq.2_Missense_Mutation_p.N139S|CALM1_uc001xym.2_Missense_Mutation_p.N102S	p.N138S	NM_006888	NP_005175	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	4	661	+		all_cancers(154;0.13)	138			EF-hand 4.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.413A>G	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630578	0.28978	.	.	ENSG00000198668	ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.45	5.45	0.79879	EF-hand-like domain (1);	0.048558	0.85682	N	0.000000	T	0.61640	0.2363	.	.	.	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.28991	0.035;0.097	T	0.61510	-0.7048	9	0.87932	D	0	.	15.5251	0.75898	1.0:0.0:0.0:0.0	.	139;138	E7ETZ0;P62158	.;CALM_HUMAN	S	138;139;102;102	ENSP00000349467:N138S;ENSP00000403491:N139S;ENSP00000450829:N102S;ENSP00000442853:N102S	ENSP00000349467:N138S	N	+	2	0	CALM1	89940603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.282000	0.95840	2.059000	0.61396	0.528000	0.53228	AAC		0.383	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			G	90870850	A	G	90870850	3	3	119	1	0	0	0	0	1	0	0	0	2584	43	2	4	431	4	CALM1	14	90870850	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	16046862	90870850	16478690	67	8191											
PPP4R4	57718	broad.mit.edu	37	chr14	94700063	94700063	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagttagttgtaaaatttTaggaaaattgaccaacaaat	17	15	6	3	0	0	1	0	1	0	0	0	2	0	2	1	1	1	3	1	1	9	8			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94700063T>A	ENST00000304338.3	+	6	744	c.590T>A	c.(589-591)tTa>tAa	p.L197*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	197					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTAAAATTTTAGGAAAATTG	0.308																																						uc001ycs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(589-591)tTa>tAa		Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.							80	81	80					14																	94700063		2202	4298	6500	SO:0001587	stop_gained	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94700063T>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.590T>A	14.37:g.94700063T>A	ENSP00000305924:p.Leu197*						p.L197*	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			5	744	+			197					Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	ENST00000304338.3	37	c.590T>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	31	5.072414	0.93950	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.52	5.52	0.82312	.	0.073698	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.849	15.6118	0.76727	0.0:0.0:0.0:1.0	.	.	.	.	X	197	.	ENSP00000305924:L197X	L	+	2	0	PPP4R4	93769816	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.036000	0.76524	2.085000	0.62840	0.383000	0.25322	TTA		0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		A	94700063	T	A	94700063	4	1	119	1	0	0	0	0	0	1	0	0	12405	1764	61	5	685	5	PPP4R4	14	94700063	Nonsense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	3829213	94700063	12649477	68	8192											
SERPINA11	256394	broad.mit.edu	37	chr14	94909543	94909543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagaaattgaaaaccttgGcaagtgcaaatccaacagac	17	7	7	10	0	0	3	0	1	0	2	2	3	2	3	3	1	3	2	3	1	6	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94909543G>A	ENST00000334708.3	-	4	1001	c.937C>T	c.(937-939)Cca>Tca	p.P313S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	313					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAAAACCTTGGCAAGTGCAAA	0.458																																						uc001ydd.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(937-939)Cca>Tca		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							75	74	74					14																	94909543		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94909543G>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.937C>T	14.37:g.94909543G>A	ENSP00000335024:p.Pro313Ser						p.P313S	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	997	-			313					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.937C>T	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099335	0.76983	.	.	ENSG00000186910	ENST00000334708	D	0.98777	-5.13	6.04	6.04	0.98038	Serpin domain (3);	0.000000	0.64402	D	0.000008	D	0.99471	0.9812	H	0.95574	3.69	0.48830	D	0.999717	D	0.71674	0.998	D	0.80764	0.994	D	0.98514	1.0620	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	313	Q86U17	SPA11_HUMAN	S	313	ENSP00000335024:P313S	ENSP00000335024:P313S	P	-	1	0	SERPINA11	93979296	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	7.380000	0.79704	2.873000	0.98535	0.563000	0.77884	CCA		0.458	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		A	94909543	G	A	94909543	3	1	119	1	0	0	0	0	1	0	0	0	14088	1203	42	3	339	3	SERPINA11	14	94909543	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	209480	94909543	12439997	69	8193											
JAG2	3714	broad.mit.edu	37	chr14	105612833	105612833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaggatctcccgaacccGatcactgtggggagaagggg	10	5	15	11	2	2	1	1	0	1	1	3	5	2	2	2	5	2	1	2	5	2	0	rs369469630		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105612833G>A	ENST00000331782.3	-	22	3001	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	JAG2_ENST00000347004.2_Silent_p.I828I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	866					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCGAACCCGATCACTGTGG	0.682													G|||	1	0.000199681	0	0	5008	,	,		15712	0.001		0	False		,,,				2504	0					uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2596-2598)atC>atT		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.		G	,	1,4399	2.1+/-5.4	0,1,2199	41	48	46		2598,2484	-6.4	0	14		46	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,3,6490	AA,AG,GG		0.0233,0.0227,0.0231	,	866/1239,828/1201	105612833	3,12983	2200	4293	6493	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105612833G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2598C>T	14.37:g.105612833G>A						JAG2_uc001yqf.3_Silent_p.I270I|JAG2_uc001yqh.3_Silent_p.I828I	p.I866I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	21	3002	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	866					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.2598C>T	CCDS9998.1																																																																																				0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105612833	G	A	105612833	2	1	119	1	0	0	0	0	0	0	0	1	7935	1048	37	2		2	JAG2	14	105612833	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	10703290	105612833	1736707	70	8194											
JAG2	3714	broad.mit.edu	37	chr14	105618019	105618019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcattcgaagccggacGgcacctcatggcaagagccc	10	5	13	13	3	1	1	1	0	0	1	2	3	1	2	3	4	2	3	3	4	2	1	rs140813175		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105618019G>A	ENST00000331782.3	-	8	1500	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.P366L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	366	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAAGCCGGACGGCACCTCATG	0.667																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1096-1098)cCg>cTg		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.			LEU/PRO,LEU/PRO	2,4396	4.2+/-10.8	0,2,2197	31	29	29		1097,1097	1.2	0.6	14	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	JAG2	NM_002226.3,NM_145159.1	98,98	0,2,6497	AA,AG,GG		0.0,0.0455,0.0154	benign,benign	366/1239,366/1201	105618019	2,12996	2199	4300	6499	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618019G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1097C>T	14.37:g.105618019G>A	ENSP00000328169:p.Pro366Leu					JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Missense_Mutation_p.P366L	p.P366L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	7	1501	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	366			EGF-like 4.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1097C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	4.200	0.035891	0.08148	4.55E-4	0.0	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.91407	-2.84;-2.22	3.17	1.16	0.20824	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.296897	0.32444	N	0.006081	T	0.77711	0.4171	N	0.17312	0.475	0.21184	N	0.999761	B;B	0.12630	0.001;0.006	B;B	0.12156	0.006;0.007	T	0.59558	-0.7432	10	0.09590	T	0.72	.	7.5364	0.27712	0.2448:0.0:0.7552:0.0	.	366;366	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	L	366	ENSP00000328169:P366L;ENSP00000328566:P366L	ENSP00000328169:P366L	P	-	2	0	JAG2	104689064	0.121000	0.22262	0.600000	0.28864	0.235000	0.25334	2.103000	0.41806	0.270000	0.21984	0.176000	0.17051	CCG		0.667	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105618019	G	A	105618019	3	1	119	1	0	0	0	0	1	0	0	0	7935	1116	39	2	2695	2	JAG2	14	105618019	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	5186	105618019	1731521	71	8195											
SLC27A2	11001	broad.mit.edu	37	chr15	50494831	50494831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgattggcattcacggatGtattgtggctggtaagcttt	8	15	12	6	1	1	1	1	1	0	0	1	2	1	2	0	4	1	5	0	4	2	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:50494831G>A	ENST00000267842.5	+	3	1068	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	SLC27A2_ENST00000544960.1_Missense_Mutation_p.C44Y|SLC27A2_ENST00000380902.4_Intron	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	279					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATTCACGGATGTATTGTGGCT	0.428																																						uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(835-837)tGt>tAt		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							191	163	173					15																	50494831		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50494831G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.836G>A	15.37:g.50494831G>A	ENSP00000267842:p.Cys279Tyr					SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.C44Y	p.C279Y	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	2	1068	+		all_lung(180;0.00177)	279					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.836G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478743	0.44044	.	.	ENSG00000140284	ENST00000267842;ENST00000544960	T;T	0.40756	1.02;1.02	5.64	5.64	0.86602	AMP-dependent synthetase/ligase (1);	0.138477	0.64402	D	0.000003	T	0.72645	0.3486	M	0.93062	3.375	0.48236	D	0.999618	D	0.59357	0.985	D	0.68943	0.961	T	0.79458	-0.1795	10	0.87932	D	0	.	17.2064	0.86920	0.0:0.0:1.0:0.0	.	279	O14975	S27A2_HUMAN	Y	279;44	ENSP00000267842:C279Y;ENSP00000444549:C44Y	ENSP00000267842:C279Y	C	+	2	0	SLC27A2	48282123	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	4.108000	0.57817	2.664000	0.90586	0.650000	0.86243	TGT		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		A	50494831	G	A	50494831	3	1	119	1	0	0	0	0	1	0	0	0	14526	1377	48	3	846	3	SLC27A2	15	50494831	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		50494831	52036561	72	8196											
BLM	641	broad.mit.edu	37	chr15	91312761	91312761	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctcttacggccacagctAatcccagggtacagaaggac	11	7	11	12	1	1	1	0	0	1	1	2	2	2	2	2	4	3	3	2	4	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:91312761A>T	ENST00000355112.3	+	12	2618	c.2500A>T	c.(2500-2502)Aat>Tat	p.N834Y	BLM_ENST00000560509.1_Missense_Mutation_p.N834Y|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	834	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGCCACAGCTAATCCCAGGGT	0.478			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2500-2502)Aat>Tat	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.							80	68	72					15																	91312761		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91312761A>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2500A>T	15.37:g.91312761A>T	ENSP00000347232:p.Asn834Tyr					BLM_uc010uqh.2_Missense_Mutation_p.N834Y|BLM_uc010uqi.2_Missense_Mutation_p.N459Y|BLM_uc010bnx.3_Missense_Mutation_p.N834Y	p.N834Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		11	2597	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		834			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2500A>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384905	0.82792	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.15487	2.42	4.86	4.86	0.63082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.047933	0.85682	D	0.000000	T	0.40423	0.1116	M	0.76574	2.34	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.994;0.998	D;D;D	0.71656	0.974;0.968;0.974	T	0.34502	-0.9826	10	0.87932	D	0	-11.0063	12.7006	0.57029	1.0:0.0:0.0:0.0	.	834;459;834	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Y	834;487;21	ENSP00000347232:N834Y	ENSP00000347232:N834Y	N	+	1	0	BLM	89113765	1.000000	0.71417	0.982000	0.44146	0.913000	0.54294	9.002000	0.93572	1.943000	0.56356	0.482000	0.46254	AAT		0.478	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			T	91312761	A	T	91312761	3	4	119	1	0	0	0	0	1	0	0	0	1445	362	13	5	2542	5	BLM	15	91312761	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	40817930	91312761	11218631	73	8197											
CDH16	1014	broad.mit.edu	37	chr16	66950022	66950022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatggcttgagagaaatgggGcacctggtcattctcatcct	9	11	12	9	0	2	2	2	1	1	1	4	4	3	2	2	4	0	2	2	4	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:66950022G>T	ENST00000299752.4	-	5	563	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CDH16_ENST00000565796.1_Missense_Mutation_p.P124T|CDH16_ENST00000394055.3_Missense_Mutation_p.P124T|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.P44T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGAAATGGGGCACCTGGTCA	0.582																																						uc002eql.3																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(370-372)Ccc>Acc		Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.							107	91	97					16																	66950022		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950022G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.370C>A	16.37:g.66950022G>T	ENSP00000299752:p.Pro124Thr					CDH16_uc010cdy.3_Missense_Mutation_p.P124T|CDH16_uc021tjx.1_Missense_Mutation_p.P124T|CDH16_uc002eqm.3_Intron	p.P124T	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	564	-		Ovarian(137;0.0563)	124			Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.370C>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919872	0.33908	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.72394	-0.65;-0.65	4.89	4.89	0.63831	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	H	0.97635	4.045	0.54753	D	0.99998	D;D	0.69078	0.997;0.996	D;P	0.65323	0.934;0.896	D	0.91812	0.5460	10	0.87932	D	0	-19.9027	13.4138	0.60958	0.0:0.0:1.0:0.0	.	124;124	O75309-2;O75309	.;CAD16_HUMAN	T	124;124;88	ENSP00000377619:P124T;ENSP00000299752:P124T	ENSP00000299752:P124T	P	-	1	0	CDH16	65507523	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.101000	0.57769	2.552000	0.86080	0.543000	0.68304	CCC		0.582	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		T	66950022	G	T	66950022	3	4	119	1	0	0	0	0	1	0	0	0	3101	1203	42	5	2175	5	CDH16	16	66950022	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		66950022	23404731	74	8198											
PHLPP2	23035	broad.mit.edu	37	chr16	71724459	71724459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaatgtgcatctttccaGtttgacaatccttcactgag	11	13	7	10	0	2	2	1	2	1	0	4	2	4	2	2	0	1	3	2	0	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:71724459G>C	ENST00000568954.1	-	4	950	c.572C>G	c.(571-573)aCt>aGt	p.T191S	PHLPP2_ENST00000393524.2_Missense_Mutation_p.T191S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T191S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T191S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T226S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	191	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATCTTTCCAGTTTGACAATC	0.408																																						uc002fax.3																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(571-573)aCt>aGt		Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							115	99	104					16																	71724459		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71724459G>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.572C>G	16.37:g.71724459G>C	ENSP00000457991:p.Thr191Ser					PHLPP2_uc010cgf.3_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S|TRNA_Gln_uc021tkw.1_5'Flank	p.T191S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			2	578	-			191			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.572C>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259508	0.59321	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.28255	1.62;1.62;1.62	5.11	5.11	0.69529	Pleckstrin homology-type (1);	0.048160	0.85682	D	0.000000	T	0.30885	0.0779	L	0.36672	1.1	0.38145	D	0.93855	P;B	0.38729	0.644;0.451	B;B	0.40636	0.335;0.137	T	0.15838	-1.0423	10	0.42905	T	0.14	-13.9059	17.5185	0.87781	0.0:0.0:1.0:0.0	.	191;191	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	S	191	ENSP00000353610:T191S;ENSP00000348611:T191S;ENSP00000377159:T191S	ENSP00000348611:T191S	T	-	2	0	PHLPP2	70281960	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.551000	0.67274	2.403000	0.81681	0.655000	0.94253	ACT		0.408	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		C	71724459	G	C	71724459	3	2	119	1	0	0	0	0	1	0	0	0	11855	1029	36	5	3463	5	PHLPP2	16	71724459	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	4774437	71724459	18630294	75	8199											
MYH3	4621	broad.mit.edu	37	chr17	10533648	10533648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcccgcccttcagcGccagctgctcggcctcatct	3	11	8	19	3	4	0	2	0	2	0	6	0	5	0	4	1	3	3	4	1	0	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:10533648G>A	ENST00000583535.1	-	37	5501	c.5414C>T	c.(5413-5415)gCg>gTg	p.A1805V	MYH3_ENST00000226209.7_Missense_Mutation_p.A1805V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1805					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCCTTCAGCGCCAGCTGCTC	0.607																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5413-5415)gCg>gTg		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							118	114	115					17																	10533648		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533648G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5414C>T	17.37:g.10533648G>A	ENSP00000464317:p.Ala1805Val						p.A1805V	NM_002470	NP_002461	P11055	MYH3_HUMAN			36	5502	-			1805					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5414C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208728	0.95069	.	.	ENSG00000109063	ENST00000226209	T	0.80824	-1.42	4.56	4.56	0.56223	Myosin tail (1);	.	.	.	.	D	0.89694	0.6789	M	0.81614	2.55	0.51767	D	0.999932	D	0.69078	0.997	D	0.68353	0.957	D	0.91303	0.5068	9	0.87932	D	0	.	17.8754	0.88824	0.0:0.0:1.0:0.0	.	1805	P11055	MYH3_HUMAN	V	1805	ENSP00000226209:A1805V	ENSP00000226209:A1805V	A	-	2	0	MYH3	10474373	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.652000	0.98499	2.509000	0.84616	0.655000	0.94253	GCG		0.607	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10533648	G	A	10533648	3	1	119	1	0	0	0	0	1	0	0	0	10036	1087	38	1	428	1	MYH3	17	10533648	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		10533648	70661562	76	8200											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939203	27939203	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtggcccccatcatTgacctcatggccgtcagcaa	9	7	11	14	1	3	1	3	1	0	0	3	2	3	1	4	3	2	2	4	3	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:27939203T>A	ENST00000394859.3	+	11	1324	c.1170T>A	c.(1168-1170)atT>atA	p.I390I	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	390						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCCCATCATTGACCTCATGG	0.597																																						uc002hei.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1168-1170)atT>atA		Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.							126	115	119					17																	27939203		2203	4300	6503	SO:0001819	synonymous_variant	124930							g.chr17:27939203T>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1170T>A	17.37:g.27939203T>A						ANKRD13B_uc002heh.3_Silent_p.I258I|ANKRD13B_uc002hej.3_Non-coding_Transcript	p.I390I	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			10	1283	+			390					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1170T>A	CCDS11251.1																																																																																				0.597	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		A	27939203	T	A	27939203	2	1	119	1	0	0	0	0	0	0	0	1	642	1800	63	5		5	ANKRD13B	17	27939203	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	17405555	27939203	53256007	77	8201											
MEP1B	4225	broad.mit.edu	37	chr18	29787380	29787380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggatgtgatcggccaacGaatggatttcagtgactctg	10	11	13	7	2	2	3	1	3	1	0	3	6	2	5	1	3	1	0	1	3	2	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:29787380G>A	ENST00000269202.6	+	8	760	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MEP1B_ENST00000581447.1_Missense_Mutation_p.R238Q	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	238	Metalloprotease.	Mediates preference for acidic residues at subsite P1'.			digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCGGCCAACGAATGGATTTC	0.388																																						uc002kxj.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(712-714)cGa>cAa		Homo sapiens meprin A, beta (MEP1B), mRNA.							58	54	55					18																	29787380		1915	4126	6041	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29787380G>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.713G>A	18.37:g.29787380G>A	ENSP00000269202:p.Arg238Gln						p.R238Q	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			7	760	+			238			Metalloprotease.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.713G>A	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	36	5.697078	0.96802	.	.	ENSG00000141434	ENST00000269202	T	0.68025	-0.3	5.75	5.75	0.90469	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87947	0.2721	10	0.72032	D	0.01	-14.7186	19.9319	0.97122	0.0:0.0:1.0:0.0	.	238	Q16820	MEP1B_HUMAN	Q	238	ENSP00000269202:R238Q	ENSP00000269202:R238Q	R	+	2	0	MEP1B	28041378	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.869000	0.99810	2.728000	0.93425	0.591000	0.81541	CGA		0.388	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		A	29787380	G	A	29787380	3	1	119	1	0	0	0	0	1	0	0	0	9476	1058	37	2	743	2	MEP1B	18	29787380	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		29787380	48289868	78	8202											
CBLN2	147381	broad.mit.edu	37	chr18	70209243	70209243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctccgtgtcgttctgCgcccgcacggggcagcaggc	4	7	16	14	5	1	0	0	0	1	0	3	0	2	0	2	4	2	5	2	4	0	1	rs199997483	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:70209243C>T	ENST00000269503.4	-	3	926	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Silent_p.A51A|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	51					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTCGTTCTGCGCCCGCACGG	0.741																																						uc002lku.2																			0				endometrium(2)|lung(15)	17						c.(151-153)gcG>gcA		Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.							22	22	22					18																	70209243		2200	4297	6497	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70209243C>T	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.153G>A	18.37:g.70209243C>T						CBLN2_uc002lkv.2_Silent_p.A51A	p.A51A	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			1	388	-		Esophageal squamous(42;0.131)	51					Q53Z56	Silent	SNP	ENST00000269503.4	37	c.153G>A	CCDS11999.1																																																																																				0.741	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		T	70209243	C	T	70209243	2	4	119	1	0	0	0	0	0	0	0	1	2705	755	27	1		1	CBLN2	18	70209243	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	40421863	70209243	7868005	79	8203											
C19orf21	126353	broad.mit.edu	37	chr19	758162	758162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccggccccagatgccCgtgcggccgacccagctcca	6	4	11	20	4	1	1	1	0	0	1	2	2	2	1	7	2	4	1	7	2	0	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:758162C>T	ENST00000215582.6	+	2	1319	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	406					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCCAGATGCCCGTGCGGCCGA	0.682																																						uc002lpo.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1216-1218)Cgt>Tgt		Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.							17	16	16					19																	758162		2188	4281	6469	SO:0001583	missense	126353							g.chr19:758162C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1216C>T	19.37:g.758162C>T	ENSP00000215582:p.Arg406Cys						p.R406C	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1299	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	406						Missense_Mutation	SNP	ENST00000215582.6	37	c.1216C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250548	0.59212	.	.	ENSG00000099812	ENST00000215582	T	0.33654	1.4	3.94	-1.46	0.08800	.	0.648698	0.13072	N	0.415991	T	0.38612	0.1047	L	0.45581	1.43	0.09310	N	0.99999	D	0.76494	0.999	P	0.54924	0.764	T	0.29366	-1.0014	10	0.42905	T	0.14	-1.6344	8.0374	0.30502	0.3862:0.4735:0.1404:0.0	.	406	Q8IVT2	CS021_HUMAN	C	406	ENSP00000215582:R406C	ENSP00000215582:R406C	R	+	1	0	C19orf21	709162	0.000000	0.05858	0.004000	0.12327	0.311000	0.27955	-0.032000	0.12266	-0.405000	0.07599	0.491000	0.48974	CGT		0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		T	758162	C	T	758162	3	4	119	1	0	0	0	0	1	0	0	0	1913	652	23	2	1218	2	C19orf21	19	758162	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		758162	58370821	80	8204											
GADD45B	4616	broad.mit.edu	37	chr19	2477591	2477591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcccctacatctctcttcagGaacgctgaggcccttcccag	7	10	7	17	1	3	1	1	1	2	0	6	2	5	2	4	2	2	1	4	2	2	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:2477591G>C	ENST00000215631.4	+	4	707	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	159					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTTCAGGAACGCTGAGG	0.562																																						uc002lwb.2																			0				cervix(2)|lung(1)|ovary(1)	4						c.(475-477)Gaa>Caa		Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.							37	39	38					19																	2477591		2202	4300	6502	SO:0001583	missense	4616				activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress			g.chr19:2477591G>C	AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.475G>C	19.37:g.2477591G>C	ENSP00000215631:p.Glu159Gln						p.E159Q	NM_015675	NP_056490	O75293	GA45B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	709	+		Hepatocellular(1079;0.137)	159					A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	ENST00000215631.4	37	c.475G>C	CCDS32868.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950326	0.53186	.	.	ENSG00000099860	ENST00000215631	T	0.53640	0.61	4.66	3.62	0.41486	.	0.168676	0.51477	D	0.000100	T	0.48537	0.1505	M	0.74467	2.265	0.80722	D	1	P	0.35656	0.514	B	0.36845	0.234	T	0.53472	-0.8434	10	0.87932	D	0	.	10.6673	0.45739	0.0958:0.0:0.9042:0.0	.	159	O75293	GA45B_HUMAN	Q	159	ENSP00000215631:E159Q	ENSP00000215631:E159Q	E	+	1	0	GADD45B	2428591	1.000000	0.71417	0.262000	0.24481	0.755000	0.42902	9.118000	0.94355	0.945000	0.37605	0.542000	0.68232	GAA		0.562	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		C	2477591	G	C	2477591	3	2	119	1	0	0	0	0	1	0	0	0	6182	1175	41	5	489	5	GADD45B	19	2477591	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	1719429	2477591	56651392	81	8205											
CPAMD8	27151	broad.mit.edu	37	chr19	17086956	17086956	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgctgaatacgtcacTgaaaccttggcgcaaatgca	12	11	8	10	2	2	2	2	2	0	0	2	2	2	2	1	1	4	3	1	1	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17086956T>C	ENST00000443236.1	-	16	1936	c.1905A>G	c.(1903-1905)tcA>tcG	p.S635S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	588						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATACGTCACTGAAACCTTGG	0.557																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1903-1905)tcA>tcG		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							40	42	41					19																	17086956		2049	4208	6257	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17086956T>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1905A>G	19.37:g.17086956T>C							p.S635S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	1937	-			588					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.1905A>G	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	T	2.209	-0.381214	0.05000	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.89	1.83	0.25207	.	.	.	.	.	T	0.41236	0.1150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35822	-0.9773	4	.	.	.	.	0.5616	0.00680	0.1763:0.2006:0.1804:0.4426	.	.	.	.	R	646	.	.	Q	-	2	0	CPAMD8	16947956	0.807000	0.29009	0.961000	0.40146	0.235000	0.25334	-0.409000	0.07160	1.113000	0.41760	0.459000	0.35465	CAG		0.557	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17086956	T	C	17086956	2	2	119	1	0	0	0	0	0	0	0	1	3795	1567	55	4		4	CPAMD8	19	17086956	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	14609365	17086956	42042027	82	8206											
B3GNT3	10331	broad.mit.edu	37	chr19	17918748	17918748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagccaccggcgatcccCgaggccctggcctggcccac	6	3	13	19	3	0	0	0	0	0	0	1	3	1	0	7	4	2	1	7	4	0	0	rs79614823	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17918748C>T	ENST00000318683.6	+	2	279	c.132C>T	c.(130-132)ccC>ccT	p.P44P	B3GNT3_ENST00000595387.1_Silent_p.P44P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	44					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGGCGATCCCCGAGGCCCTGG	0.687													C|||	33	0.00658946	0.0242	0.0014	5008	,	,		9994	0		0	False		,,,				2504	0					uc002nhl.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(130-132)ccC>ccT		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.		C		88,4314		0,88,2113	20	21	21		132	1.4	0	19	dbSNP_131	21	3,8575		0,3,4286	no	coding-synonymous	B3GNT3	NM_014256.3		0,91,6399	TT,TC,CC		0.035,1.9991,0.7011		44/373	17918748	91,12889	2201	4289	6490	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918748C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.132C>T	19.37:g.17918748C>T						B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	p.P44P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			1	279	+			44					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.132C>T	CCDS12364.1																																																																																				0.687	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		T	17918748	C	T	17918748	2	4	119	1	0	0	0	0	0	0	0	1	1258	639	23	2		2	B3GNT3	19	17918748	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	831792	17918748	41210235	83	8207											
ZNF493	284443	broad.mit.edu	37	chr19	21606457	21606457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggcaaagcctttagtatTttctcaacccctactaaaca	12	13	5	11	0	1	0	1	0	1	0	2	0	1	0	3	1	4	2	3	1	7	7			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:21606457T>C	ENST00000355504.4	+	2	878	c.612T>C	c.(610-612)atT>atC	p.I204I	ZNF493_ENST00000392288.2_Silent_p.I332I|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTTAGTATTTTCTCAACCC	0.348																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(994-996)atT>atC		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							35	39	38					19																	21606457		2199	4296	6495	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606457T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.612T>C	19.37:g.21606457T>C						ZNF493_uc002npx.3_Silent_p.I204I|ZNF493_uc002npy.3_Silent_p.I204I|ZNF493_uc021urq.1_Silent_p.I204I	p.I332I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN			3	1115	+			204					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.996T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		C	21606457	T	C	21606457	2	2	119	1	0	0	0	0	0	0	0	1	17941	1829	64	4		4	ZNF493	19	21606457	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	3687709	21606457	37522526	84	8208											
LSR	51599	broad.mit.edu	37	chr19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttctcgacctggcccccCcagtggccgtgtggagcggg	3	7	14	17	3	1	0	0	0	1	0	2	2	1	1	6	4	1	0	6	4	0	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:35757850C>T	ENST00000361790.3	+	8	1427	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000354900.3_Missense_Mutation_p.P404L|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000360798.3_Missense_Mutation_p.P355L|LSR_ENST00000427250.1_Missense_Mutation_p.P267L|LSR_ENST00000602122.1_Missense_Mutation_p.P403L|LSR_ENST00000347609.4_Missense_Mutation_p.P365L|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000222305.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	423					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622																																						uc002nyl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(1267-1269)cCc>cTc		Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.							27	31	29					19																	35757850		2202	4300	6502	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757850C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1268C>T	19.37:g.35757850C>T	ENSP00000354575:p.Pro423Leu					LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.P423L	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1491	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		423					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1268C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980669	0.34942	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.63096	0.52;0.68;0.36;0.33;-0.02	4.39	4.39	0.52855	.	0.887861	0.09961	N	0.733409	T	0.52757	0.1754	L	0.44542	1.39	0.39698	D	0.97114	B;B;B;B;P;D	0.53619	0.335;0.16;0.02;0.302;0.651;0.961	B;B;B;B;B;P	0.44597	0.058;0.059;0.059;0.376;0.084;0.454	T	0.47935	-0.9078	10	0.07644	T	0.81	-11.48	9.6783	0.40054	0.2074:0.7926:0.0:0.0	.	361;365;403;355;404;423	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	L	423;404;355;365;267	ENSP00000354575:P423L;ENSP00000346976:P404L;ENSP00000354034:P355L;ENSP00000262627:P365L;ENSP00000394479:P267L	ENSP00000262627:P365L	P	+	2	0	LSR	40449690	0.030000	0.19436	0.195000	0.23364	0.837000	0.47467	0.423000	0.21313	2.249000	0.74217	0.561000	0.74099	CCC		0.622	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		T	35757850	C	T	35757850	3	4	119	1	0	0	0	0	1	0	0	0	9064	623	22	3	1298	3	LSR	19	35757850	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	14151393	35757850	23371133	85	8209											
CEACAM18	729767	broad.mit.edu	37	chr19	51986389	51986389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccttcctggatctcaaGtaccactggatccacaatgg	10	12	7	12	0	1	0	1	0	1	0	5	2	4	2	4	3	1	1	4	3	4	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:51986389G>A	ENST00000396477.4	+	4	813	c.792G>A	c.(790-792)aaG>aaA	p.K264K	CEACAM18_ENST00000451626.1_Silent_p.K325K	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	264	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGATCTCAAGTACCACTGGA	0.512																																						uc002pwv.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(973-975)aaG>aaA		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.							182	179	180					19																	51986389		2025	4192	6217	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51986389G>A			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.792G>A	19.37:g.51986389G>A							p.K325K	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	975	+		all_neural(266;0.0529)	325			Ig-like C2-type.		C9JN24	Silent	SNP	ENST00000396477.4	37	c.975G>A																																																																																					0.512	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			A	51986389	G	A	51986389	2	1	119	1	0	0	0	0	0	0	0	1	3189	1020	36	3		3	CEACAM18	19	51986389	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	16228539	51986389	7142594	86	8210											
ZNF845	91664	broad.mit.edu	37	chr19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtttcaaatcaaaccttCaaagacataggagaattcat	17	11	5	8	0	5	2	5	0	0	2	5	3	5	2	1	1	1	1	1	1	5	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:53855879C>G	ENST00000595091.1	+	5	2170	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q651E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q651E(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAACCTTCAAAGACATAG	0.398																																						uc010ydv.1																			1	Substitution - Missense(1)	p.Q651E(2)	lung(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1951-1953)Caa>Gaa		Homo sapiens zinc finger protein 845 (ZNF845), mRNA.							19	18	19					19																	53855879		692	1589	2281	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855879C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1951C>G	19.37:g.53855879C>G	ENSP00000470005:p.Gln651Glu					ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			3	2068	+			651						Missense_Mutation	SNP	ENST00000595091.1	37	c.1951C>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712761	0.00712	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.11821	2.74	1.98	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	N	0.12443	0.215	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.22312	-1.0220	9	0.28530	T	0.3	.	0.8451	0.01159	0.3331:0.2896:0.1039:0.2734	.	651	Q96IR2	ZN845_HUMAN	E	651	ENSP00000388311:Q651E	ENSP00000412086:Q651E	Q	+	1	0	ZNF845	58547691	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.704000	0.00196	-3.257000	0.00203	-0.683000	0.03753	CAA		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		G	53855879	C	G	53855879	3	3	119	1	0	0	0	0	1	0	0	0	18188	827	29	5	1961	5	ZNF845	19	53855879	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	1869490	53855879	5273104	87	8211											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704064	56704064	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtcttctgttatttcGtagcaggtcctccaggtctt	4	17	10	10	1	3	0	0	0	3	0	6	0	5	0	2	3	1	3	2	3	2	6	rs555339343		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:56704064G>A	ENST00000586855.2	-	2	671	c.358C>T	c.(358-360)Cga>Tga	p.R120*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.R120*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	120	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGTTATTTCGTAGCAGGTCC	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		19191	0		0	False		,,,				2504	0					uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(358-360)Cga>Tga		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.							52	57	56					19																	56704064		2202	4297	6499	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704064G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.358C>T	19.37:g.56704064G>A	ENSP00000466072:p.Arg120*						p.R120*	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			0	358	-			120			SCAN box.			Nonsense_Mutation	SNP	ENST00000586855.2	37	c.358C>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413615	0.42817	.	.	ENSG00000197213	ENST00000358992	.	.	.	2.48	-4.22	0.03800	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5298	0.16978	0.1744:0.0:0.5776:0.248	.	.	.	.	X	120	.	ENSP00000351883:R120X	R	-	1	2	ZSCAN5B	61395876	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.228000	0.17814	-1.035000	0.03291	0.313000	0.20887	CGA		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		A	56704064	G	A	56704064	4	1	119	1	0	0	0	0	0	1	0	0	18236	1153	40	1	1145	1	ZSCAN5B	19	56704064	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	2848185	56704064	2424919	88	8212											
ACTR5	79913	broad.mit.edu	37	chr20	37383758	37383758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagctcaatgcccggCggcgggaggagaagctgcag	9	4	18	10	3	1	1	1	0	0	1	1	4	1	3	1	5	5	4	1	5	2	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:37383758C>T	ENST00000243903.4	+	4	971	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	312					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAATGCCCGGCGGCGGGAGGA	0.597																																						uc002xjd.2																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(934-936)Cgg>Tgg		Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.							23	26	25					20																	37383758		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37383758C>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.934C>T	20.37:g.37383758C>T	ENSP00000243903:p.Arg312Trp						p.R312W	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			3	959	+		Myeloproliferative disorder(115;0.00878)	312					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.934C>T	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488632	0.84854	.	.	ENSG00000101442	ENST00000243903	D	0.96830	-4.14	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98139	1.0435	10	0.51188	T	0.08	-40.4728	20.1726	0.98160	0.0:1.0:0.0:0.0	.	312	Q9H9F9	ARP5_HUMAN	W	312	ENSP00000243903:R312W	ENSP00000243903:R312W	R	+	1	2	ACTR5	36817172	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	5.267000	0.65530	2.777000	0.95525	0.655000	0.94253	CGG		0.597	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37383758	C	T	37383758	3	4	119	1	0	0	0	0	1	0	0	0	215	759	27	1	948	1	ACTR5	20	37383758	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		37383758	25641762	89	8213											
SALL4	57167	broad.mit.edu	37	chr20	50400910	50400910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgcactgatacccgactggGagccatccatcttggagaca	10	8	10	13	1	1	2	0	1	1	1	2	5	2	3	3	2	3	1	3	2	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:50400910G>C	ENST00000217086.4	-	4	3167	c.3056C>G	c.(3055-3057)tCc>tGc	p.S1019C	SALL4_ENST00000395997.3_Missense_Mutation_p.S582C|SALL4_ENST00000371539.3_Missense_Mutation_p.S242C	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1019					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCGACTGGGAGCCATCCAT	0.542																																						uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3055-3057)tCc>tGc		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							87	81	83					20																	50400910		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400910G>C	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.3056C>G	20.37:g.50400910G>C	ENSP00000217086:p.Ser1019Cys					SALL4_uc010gii.3_Missense_Mutation_p.S582C|SALL4_uc002xwi.4_Missense_Mutation_p.S242C	p.S1019C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			3	3157	-			1019					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.3056C>G	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249406	0.39797	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.52057	0.68;0.68;0.68	4.58	3.63	0.41609	.	0.000000	0.41294	D	0.000911	T	0.66703	0.2816	M	0.82056	2.57	0.42748	D	0.993763	B;D;D	0.89917	0.099;1.0;0.999	B;D;D	0.79784	0.027;0.98;0.993	T	0.69881	-0.5025	10	0.72032	D	0.01	-23.2044	9.9197	0.41457	0.0788:0.1391:0.7821:0.0	.	582;242;1019	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	C	1019;582;242	ENSP00000217086:S1019C;ENSP00000379319:S582C;ENSP00000360594:S242C	ENSP00000217086:S1019C	S	-	2	0	SALL4	49834317	1.000000	0.71417	0.781000	0.31783	0.237000	0.25408	7.609000	0.82925	1.037000	0.40024	0.555000	0.69702	TCC		0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			C	50400910	G	C	50400910	3	2	119	1	0	0	0	0	1	0	0	0	13813	1174	41	5	109	5	SALL4	20	50400910	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	13017152	50400910	12624610	90	8214											
PRIC285	85441	broad.mit.edu	37	chr20	62195800	62195800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcacctcctccgcctcctCgtaggacagctggcggtcag	6	8	11	16	3	2	0	2	0	0	0	6	2	5	1	5	3	1	2	5	3	1	1	rs539953336	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:62195800C>T	ENST00000467148.1	-	8	4444	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E890K	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1459					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCGCCTCCTCGTAGGACAGC	0.682																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(4375-4377)Gag>Aag		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							8	7	8					20																	62195800		2141	4248	6389	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62195800C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4375G>A	20.37:g.62195800C>T	ENSP00000417401:p.Glu1459Lys					PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	p.E1459K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		8	5267	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1459					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.4375G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232381	0.58777	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.33654	1.4;1.4	4.97	4.97	0.65823	Ribonuclease II/R (2);	0.210788	0.47852	D	0.000213	T	0.56673	0.2001	M	0.83223	2.63	0.47659	D	0.999483	D;D	0.63046	0.97;0.992	P;P	0.52856	0.711;0.685	T	0.65952	-0.6043	10	0.66056	D	0.02	-24.7561	18.2092	0.89865	0.0:1.0:0.0:0.0	.	1459;890	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	K	890;1459	ENSP00000393257:E890K;ENSP00000417401:E1459K	ENSP00000393257:E890K	E	-	1	0	RP4-697K14.7	61666244	0.992000	0.36948	0.981000	0.43875	0.149000	0.21700	2.940000	0.49003	2.306000	0.77630	0.491000	0.48974	GAG		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62195800	C	T	62195800	3	4	119	1	0	0	0	0	1	0	0	0	12485	893	31	2	3622	2	PRIC285	20	62195800	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	11794890	62195800	829720	91	8215											
PMM1	5372	broad.mit.edu	37	chr22	41974860	41974860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgttttcagggcttccAcgaacttctcccggatcttc	6	14	7	14	2	4	0	1	0	3	0	7	2	5	1	2	2	1	2	2	2	1	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr22:41974860A>G	ENST00000216259.7	-	6	584	c.500T>C	c.(499-501)gTg>gCg	p.V167A		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	167					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CAGGGCTTCCACGAACTTCTC	0.617																																						uc003bal.2																			0		p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(499-501)gTg>gCg		Homo sapiens phosphomannomutase 1 (PMM1), mRNA.							77	69	72					22																	41974860		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41974860A>G		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.500T>C	22.37:g.41974860A>G	ENSP00000216259:p.Val167Ala						p.V167A	NM_002676	NP_002667	Q92871	PMM1_HUMAN			5	562	-			167					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.500T>C	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	32	5.157292	0.94686	.	.	ENSG00000100417	ENST00000216259	D	0.98862	-5.19	5.56	5.56	0.83823	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99937	1.1368	10	0.26408	T	0.33	-19.4384	15.7046	0.77569	1.0:0.0:0.0:0.0	.	167	Q92871	PMM1_HUMAN	A	167	ENSP00000216259:V167A	ENSP00000216259:V167A	V	-	2	0	PMM1	40304806	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.090000	0.94144	2.115000	0.64714	0.533000	0.62120	GTG		0.617	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		G	41974860	A	G	41974860	3	3	119	1	0	0	0	0	1	0	0	0	12136	159	6	4	300	4	PMM1	22	41974860	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08		41974860	9329706	92	8216											
DMD	1756	broad.mit.edu	37	chrX	31165414	31165414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcagctgccttagcCtgtgtaactgtgactccagc	7	10	10	14	0	0	1	0	1	0	0	2	1	2	1	4	0	6	4	4	0	2	2	rs398123845		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:31165414C>G	ENST00000357033.4	-	75	10981	c.10775G>C	c.(10774-10776)aGg>aCg	p.R3592T	DMD_ENST00000378677.2_Missense_Mutation_p.R3588T|DMD_ENST00000378707.3_Missense_Mutation_p.R1132T|DMD_ENST00000361471.4_Missense_Mutation_p.R511T|DMD_ENST00000474231.1_Missense_Mutation_p.R1132T|DMD_ENST00000378723.3_Missense_Mutation_p.R524T|DMD_ENST00000378680.2_Missense_Mutation_p.R414T|DMD_ENST00000343523.2_Missense_Mutation_p.R1022T|DMD_ENST00000378702.4_Missense_Mutation_p.R524T|DMD_ENST00000359836.1_Missense_Mutation_p.R1119T|DMD_ENST00000541735.1_Missense_Mutation_p.R1022T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3592					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCTTAGCCTGTGTAACTG	0.458																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10774-10776)aGg>aCg		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							94	85	88					X																	31165414		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31165414C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10775G>C	X.37:g.31165414C>G	ENSP00000354923:p.Arg3592Thr					DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1022T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T	p.R3592T	NM_004006	NP_004001	P11532	DMD_HUMAN			74	11019	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3592					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10775G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.300327|4.300327	0.81136|0.81136	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.69175	.|1.96;3.67;-0.38;-0.38;3.57;3.19;3.59;3.24;1.96;3.64;1.91;1.69	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.000000	.|0.38217	.|U	.|0.001765	D|D	0.83170|0.83170	0.5196|0.5196	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.987;0.994;0.993;0.981;0.999;0.999;1.0;1.0;1.0;0.967;0.981;1.0;0.981;1.0;0.999;0.993	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.942;0.983;0.977;0.966;0.991;0.991;0.998;0.987;0.987;0.916;0.962;0.999;0.962;0.998;0.99;0.977	D|D	0.85043|0.85043	0.0924|0.0924	5|10	.|0.45353	.|T	.|0.12	.|.	16.7086|16.7086	0.85379|0.85379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|414;3584;3592;3588;2251;2248;1119;1132;1132;1022;1022;3469;511;524;511;524	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	H|T	1320|3584;2251;2248;524;1275;3588;3592;1119;1022;3592;3469;1132;1022;524;1132;511;414	.|ENSP00000367997:R524T;ENSP00000350765:R1275T;ENSP00000367948:R3588T;ENSP00000354923:R3592T;ENSP00000352894:R1119T;ENSP00000340057:R1022T;ENSP00000367979:R1132T;ENSP00000444119:R1022T;ENSP00000367974:R524T;ENSP00000417123:R1132T;ENSP00000354464:R511T;ENSP00000367951:R414T	.|ENSP00000340057:R1022T	Q|R	-|-	3|2	2|0	DMD|DMD	31075335|31075335	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	7.651000|7.651000	0.83577|0.83577	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	CAG|AGG		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	31165414	C	G	31165414	3	3	119	1	0	0	0	0	1	0	0	0	4580	681	24	5	388	5	DMD	23	31165414	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		31165414	124105146	93	8217											
MAGEB16	139604	broad.mit.edu	37	chrX	35820765	35820765	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgatgagagccactTctctgagatcctcctgagag	12	9	10	10	0	1	5	0	4	1	4	4	8	3	5	3	0	1	0	3	0	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:35820765T>A	ENST00000399989.1	+	2	731	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	MAGEB16_ENST00000399988.1_Missense_Mutation_p.F151Y|MAGEB16_ENST00000399987.1_Missense_Mutation_p.F151Y|MAGEB16_ENST00000399985.1_Missense_Mutation_p.F151Y|MAGEB16_ENST00000399992.1_Missense_Mutation_p.F183Y	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	151	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGCCACTTCTCTGAGATC	0.448																																						uc010ngt.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(451-453)tTc>tAc		Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.							80	78	78					X																	35820765		2030	4175	6205	SO:0001583	missense	139604							g.chrX:35820765T>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.452T>A	X.37:g.35820765T>A	ENSP00000382871:p.Phe151Tyr					MAGEB16_uc022bus.1_Missense_Mutation_p.F151Y	p.F151Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			1	731	+			151			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.452T>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416586	0.42918	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	3.13	1.9	0.25705	.	0.246954	0.42420	D	0.000720	T	0.14700	0.0355	M	0.68317	2.08	0.09310	N	1	D	0.60160	0.987	P	0.60949	0.881	T	0.03840	-1.0999	10	0.51188	T	0.08	.	5.6389	0.17552	0.0:0.0:0.2809:0.7191	.	151	A2A368	MAGBG_HUMAN	Y	151;183;151;151;151	ENSP00000382870:F151Y;ENSP00000382874:F183Y;ENSP00000382869:F151Y;ENSP00000382871:F151Y;ENSP00000382867:F151Y	ENSP00000382867:F151Y	F	+	2	0	MAGEB16	35730686	0.003000	0.15002	0.001000	0.08648	0.047000	0.14425	0.608000	0.24223	0.438000	0.26450	0.423000	0.28283	TTC		0.448	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			A	35820765	T	A	35820765	3	1	119	1	0	0	0	0	1	0	0	0	9174	1783	62	5	454	5	MAGEB16	23	35820765	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	4655351	35820765	119449795	94	8218											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177576	89177576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtggcccttgccaaaGggccagatgtcaagagagaa	11	6	12	12	0	1	3	1	0	0	3	1	4	1	3	5	2	1	0	5	2	3	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:89177576G>A	ENST00000561129.2	+	1	622	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TGIF2LX_ENST00000283891.5_Silent_p.K164K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCTTGCCAAAGGGCCAGATGT	0.592																																						uc022bzr.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(490-492)aaG>aaA		Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.							34	39	37					X																	89177576		2203	4296	6499	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177576G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.492G>A	X.37:g.89177576G>A						TGIF2LX_uc004efe.3_Silent_p.K164K	p.K164K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			0	492	+			164					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.492G>A	CCDS14459.1																																																																																				0.592	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		A	89177576	G	A	89177576	2	1	119	1	0	0	0	0	0	0	0	1	15824	991	35	3		3	TGIF2LX	23	89177576	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	53356811	89177576	66092984	95	8219											
DIAPH2	1730	broad.mit.edu	37	chrX	96212894	96212894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctccattgccaggtgtagGgccgcctccaccaccacccg	7	6	9	19	2	0	0	0	0	0	0	2	0	2	0	9	2	1	1	9	2	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:96212894G>T	ENST00000324765.8	+	16	2029	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	DIAPH2_ENST00000373061.3_Missense_Mutation_p.G561V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G557V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G561V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G561V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	561	FH1.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCAGGTGTAGGGCCGCCTCCA	0.537																																						uc004efu.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1681-1683)gGg>gTg		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							37	34	35					X																	96212894		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96212894G>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1682G>T	X.37:g.96212894G>T	ENSP00000321348:p.Gly561Val					DIAPH2_uc004eft.4_Missense_Mutation_p.G561V	p.G561V	NM_006729	NP_006720	O60879	DIAP2_HUMAN			15	2078	+			561			FH1.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1682G>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894054	0.17613	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.38	1.15	0.20763	.	0.522971	0.17703	N	0.164872	T	0.71736	0.3375	M	0.81497	2.545	0.09310	N	0.999992	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.55418	-0.8144	10	0.14252	T	0.57	.	5.986	0.19434	0.0883:0.4304:0.3827:0.0985	.	561;561	O60879;O60879-2	DIAP2_HUMAN;.	V	561;557;561;561;561;568	ENSP00000362152:G561V;ENSP00000362145:G557V;ENSP00000348082:G561V;ENSP00000362140:G561V;ENSP00000321348:G561V	ENSP00000321348:G561V	G	+	2	0	DIAPH2	96099550	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	-0.351000	0.07711	0.104000	0.17725	-0.215000	0.12644	GGG		0.537	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96212894	G	T	96212894	3	4	119	1	0	0	0	0	1	0	0	0	4519	1232	43	5	1744	5	DIAPH2	23	96212894	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	7035318	96212894	59057666	96	8220											
MAGEC2	51438	broad.mit.edu	37	chrX	141291061	141291061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacagttgccctttatgAagatcacactcagaataata	15	10	7	9	0	2	3	2	1	0	2	2	3	2	3	1	1	1	2	1	1	5	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:141291061A>T	ENST00000247452.3	-	3	1060	c.713T>A	c.(712-714)tTc>tAc	p.F238Y		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	238	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTATGAAGATCACACT	0.512										HNSCC(46;0.14)																												uc022cfj.1																			0		p.I237T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(712-714)tTc>tAc		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							121	114	116					X																	141291061		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291061A>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.713T>A	X.37:g.141291061A>T	ENSP00000354660:p.Phe238Tyr	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.F238Y	p.F238Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	713	-	Acute lymphoblastic leukemia(192;6.56e-05)		238			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.713T>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	13.04	2.117870	0.37339	.	.	ENSG00000046774	ENST00000247452	T	0.06218	3.33	0.988	0.988	0.19796	.	0.130517	0.51477	U	0.000091	T	0.18257	0.0438	M	0.81239	2.535	0.09310	N	1	P	0.52577	0.954	D	0.66847	0.947	T	0.02431	-1.1160	10	0.87932	D	0	.	3.916	0.09224	1.0:0.0:0.0:0.0	.	238	Q9UBF1	MAGC2_HUMAN	Y	238	ENSP00000354660:F238Y	ENSP00000354660:F238Y	F	-	2	0	MAGEC2	141118727	0.880000	0.30214	0.025000	0.17156	0.058000	0.15608	2.181000	0.42547	0.635000	0.30488	0.235000	0.17854	TTC		0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		T	141291061	A	T	141291061	3	4	119	1	0	0	0	0	1	0	0	0	9181	246	9	5	412	5	MAGEC2	23	141291061	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	45078167	141291061	13979499	97	8221											
MAGEA12	4111	broad.mit.edu	37	chrX	151900207	151900207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgattatcaggaggcctgtCttgggcacgatctgattgtc	8	12	12	9	2	3	1	1	1	2	0	4	4	3	2	1	3	0	1	1	3	1	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:151900207C>A	ENST00000357916.4	-	2	749	c.594G>T	c.(592-594)aaG>aaT	p.K198N	MAGEA12_ENST00000393869.3_Missense_Mutation_p.K198N|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.K198N	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	198	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCTGTCTTGGGCACGA	0.577																																						uc022chj.1																			0		p.K198*(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(592-594)aaG>aaT		Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.							149	143	145					X																	151900207		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900207C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.594G>T	X.37:g.151900207C>A	ENSP00000350592:p.Lys198Asn					MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.K198N|MAGEA12_uc022chi.1_Missense_Mutation_p.K198N|MAGEA12_uc004fgc.3_Missense_Mutation_p.K198N	p.K198N	NM_005367	NP_005358	P43365	MAGAC_HUMAN			0	594	-	Acute lymphoblastic leukemia(192;6.56e-05)		198			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.594G>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967563	0.18659	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05855	3.38;3.38;3.38	0.809	-0.253	0.12996	.	0.092704	0.64402	N	0.000001	T	0.28366	0.0701	H	0.96365	3.81	0.09310	N	1	D	0.71674	0.998	D	0.79784	0.993	T	0.13575	-1.0504	9	0.66056	D	0.02	.	.	.	.	.	198	P43365	MAGAC_HUMAN	N	198	ENSP00000350592:K198N;ENSP00000377447:K198N;ENSP00000377478:K198N	ENSP00000350592:K198N	K	-	3	2	MAGEA12	151650863	0.458000	0.25760	0.039000	0.18376	0.002000	0.02628	-0.504000	0.06375	-0.647000	0.05444	-1.111000	0.02071	AAG		0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		A	151900207	C	A	151900207	3	1	119	1	0	0	0	0	1	0	0	0	9166	912	32	5	354	5	MAGEA12	23	151900207	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	10609146	151900207	3370353	98	8222											
SPRY3	10251	broad.mit.edu	37	chrX	155003952	155003952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaatctgcagggcaccCtagtgagcacctcttcatct	9	10	9	13	0	4	2	1	2	3	0	4	2	4	2	2	1	3	4	2	1	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:155003952C>A	ENST00000302805.2	+	2	850	c.419C>A	c.(418-420)cCt>cAt	p.P140H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	140					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGGGCACCCTAGTGAGCAC	0.612																																						uc022cio.1																			0											c.(418-420)cCt>cAt		Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.							102	106	105					X																	155003952		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003952C>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.419C>A	X.37:g.155003952C>A	ENSP00000302978:p.Pro140His					SPRY3_uc004fnq.1_Missense_Mutation_p.P140H	p.P140H	NM_005840	NP_005831	O43610	SPY3_HUMAN			0	419	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		140					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.419C>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	1.295	-0.606561	0.03717	.	.	ENSG00000168939	ENST00000302805	T	0.55588	0.51	2.97	2.05	0.26809	.	1.506000	0.03973	N	0.291940	T	0.34395	0.0896	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	9	0.15952	T	0.53	-10.7714	6.5098	0.22216	0.2873:0.7127:0.0:0.0	.	140	O43610	SPY3_HUMAN	H	140	ENSP00000302978:P140H	ENSP00000302978:P140H	P	+	2	0	SPRY3	154657146	0.000000	0.05858	0.753000	0.31225	0.366000	0.29705	0.027000	0.13621	0.405000	0.25532	0.279000	0.19357	CCT		0.612	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		A	155003952	C	A	155003952	3	1	119	1	0	0	0	0	1	0	0	0	15106	681	24	5	421	5	SPRY3	23	155003952	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	3103745	155003952	266608	99	8223											
FOXJ3	22887	broad.mit.edu	37	chr1	42693556	42693556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgataaagagcctttacccGttctacagatcgtgccctct	10	12	7	12	2	2	3	0	1	2	2	3	3	2	3	3	0	4	1	3	0	4	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:42693556G>A	ENST00000372572.1	-	7	837	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	FOXJ3_ENST00000545068.1_Missense_Mutation_p.R176W|FOXJ3_ENST00000372573.1_Missense_Mutation_p.R176W|FOXJ3_ENST00000361346.1_Missense_Mutation_p.R176W|FOXJ3_ENST00000361776.1_Missense_Mutation_p.R176W	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	176					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTTACCCGTTCTACAGAT	0.393																																						uc001che.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(526-528)Cgg>Tgg		Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.							100	90	94					1																	42693556		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42693556G>A	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.526C>T	1.37:g.42693556G>A	ENSP00000361653:p.Arg176Trp					FOXJ3_uc001chf.3_Missense_Mutation_p.R176W|FOXJ3_uc001chh.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.3_Missense_Mutation_p.R176W	p.R176W	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN			6	838	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	176					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.526C>T	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534159	0.85812	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95137	-3.51;-3.51;-3.51;-3.42;-3.51;-3.62	5.87	5.87	0.94306	.	1.220620	0.05577	N	0.572128	D	0.96682	0.8917	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.961;0.967	D	0.90516	0.4485	10	0.72032	D	0.01	.	17.686	0.88256	0.0:0.0:1.0:0.0	.	176;176	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	W	176	ENSP00000361654:R176W;ENSP00000361653:R176W;ENSP00000354620:R176W;ENSP00000354449:R176W;ENSP00000439044:R176W;ENSP00000393408:R176W	ENSP00000354620:R176W	R	-	1	2	FOXJ3	42466143	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.962000	0.49176	2.767000	0.95098	0.655000	0.94253	CGG		0.393	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42693556	G	A	42693556	3	1	120	1	0	0	0	0	1	0	0	0	6013	1144	40	1	1378	1	FOXJ3	1	42693556	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		42693556	206557065	1	8224											
NSUN4	387338	broad.mit.edu	37	chr1	46810560	46810560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtttggagatctttggCcatcaatccgtgtcagtctc	7	14	10	10	1	4	1	2	0	2	1	6	2	5	1	2	2	1	2	2	2	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:46810560C>T	ENST00000474844.1	+	2	831	c.181C>T	c.(181-183)Cca>Tca	p.P61S	NSUN4_ENST00000536062.1_Missense_Mutation_p.P12S|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.P12S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	61					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATCTTTGGCCATCAATCCG	0.488																																						uc001cpr.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(181-183)Cca>Tca		Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.							181	172	175					1																	46810560		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46810560C>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.181C>T	1.37:g.46810560C>T	ENSP00000419740:p.Pro61Ser					NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	p.P61S	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN			1	290	+	Acute lymphoblastic leukemia(166;0.155)		61					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.181C>T	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700188	0.88924	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14766	2.5;2.48;2.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.42581	1.335	0.80722	D	1	D	0.54772	0.968	P	0.46208	0.507	T	0.00505	-1.1700	10	0.38643	T	0.18	-9.6387	18.9929	0.92801	0.0:1.0:0.0:0.0	.	61	Q96CB9	NSUN4_HUMAN	S	61;12;12	ENSP00000419740:P61S;ENSP00000438912:P12S;ENSP00000437758:P12S	ENSP00000419740:P61S	P	+	1	0	NSUN4	46583147	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.400000	0.66320	2.597000	0.87782	0.563000	0.77884	CCA		0.488	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		T	46810560	C	T	46810560	3	4	120	1	0	0	0	0	1	0	0	0	10680	739	26	3	187	3	NSUN4	1	46810560	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	4117004	46810560	202440061	2	8225											
COL11A1	1301	broad.mit.edu	37	chr1	103487313	103487313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctctccatatgcacCatggccatttatctgttgaa	8	16	5	12	0	2	1	0	1	2	0	5	1	4	1	4	1	1	2	4	1	3	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:103487313C>A	ENST00000370096.3	-	9	1570	c.1258G>T	c.(1258-1260)Ggt>Tgt	p.G420C	COL11A1_ENST00000512756.1_Missense_Mutation_p.G304C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G381C|COL11A1_ENST00000358392.2_Missense_Mutation_p.G432C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	420	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCATATGCACCATGGCCATTT	0.343																																						uc001dum.3																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1294-1296)Ggt>Tgt		Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.							144	135	138					1																	103487313		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103487313C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1258G>T	1.37:g.103487313C>A	ENSP00000359114:p.Gly420Cys					COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G420C|COL11A1_uc001dun.3_Missense_Mutation_p.G381C|COL11A1_uc009weh.3_Missense_Mutation_p.G304C	p.G432C	NM_080629	NP_542196	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1612	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	420			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1294G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712213	0.68730	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64	5.28	5.28	0.74379	.	0.285219	0.33005	N	0.005381	D	0.98579	0.9525	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	P;D;D;P	0.63877	0.831;0.919;0.919;0.831	D	0.99320	1.0906	10	0.66056	D	0.02	.	18.9067	0.92466	0.0:1.0:0.0:0.0	.	304;381;432;420	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	C	420;432;381;304;432	ENSP00000359114:G420C;ENSP00000351163:G432C;ENSP00000302551:G381C;ENSP00000426533:G304C;ENSP00000408640:G432C	ENSP00000302551:G381C	G	-	1	0	COL11A1	103259901	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.376000	0.73141	2.466000	0.83321	0.637000	0.83480	GGT		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103487313	C	A	103487313	3	1	120	1	0	0	0	0	1	0	0	0	3667	594	21	5	4398	5	COL11A1	1	103487313	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	56676753	103487313	145763308	3	8226											
HSPA6	3310	broad.mit.edu	37	chr1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagattcatgacgtcGtcctggtggggggctccaca	7	8	14	12	2	1	2	1	1	0	1	4	2	3	2	3	5	0	1	3	5	0	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:161495457G>A	ENST00000309758.4	+	1	1422	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	337					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597																																						uc001gaq.3																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(1009-1011)Gtc>Atc		Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.							42	44	43					1																	161495457		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495457G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1009G>A	1.37:g.161495457G>A	ENSP00000310219:p.Val337Ile					TRNA_Gly_uc021pdc.1_5'Flank	p.V337I	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		0	1422	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		337					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.1009G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	10.75	1.437754	0.25900	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10763	2.84	3.23	0.853	0.19001	Heat shock protein 70, conserved site (1);	0.211697	0.22294	N	0.061958	T	0.04092	0.0114	M	0.69185	2.1	0.36022	D	0.838798	B	0.13145	0.007	B	0.17433	0.018	T	0.11324	-1.0592	10	0.87932	D	0	.	2.8879	0.05667	0.2164:0.0:0.5343:0.2492	.	337	P17066	HSP76_HUMAN	I	337;313	ENSP00000310219:V337I	ENSP00000310219:V337I	V	+	1	0	HSPA6	159762081	1.000000	0.71417	0.223000	0.23860	0.706000	0.40770	5.335000	0.65929	-0.096000	0.12329	-0.399000	0.06403	GTC		0.597	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		A	161495457	G	A	161495457	3	1	120	1	0	0	0	0	1	0	0	0	7415	1145	40	1	1011	1	HSPA6	1	161495457	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	58008144	161495457	87755164	4	8227											
CFHR2	3080	broad.mit.edu	37	chr1	196927110	196927110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatgctccaggttcatcaGttgagtaccagtgccagaac	11	11	9	10	0	2	2	2	1	0	1	3	2	3	2	3	1	4	4	3	1	4	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:196927110G>T	ENST00000367415.5	+	4	620	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	CFHR2_ENST00000476712.2_Missense_Mutation_p.V158F|CFHR2_ENST00000367421.3_Missense_Mutation_p.V174F|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	174	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGGTTCATCAGTTGAGTACCA	0.403																																						uc001gtq.1																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(520-522)Gtt>Ttt		Homo sapiens complement factor H-related 2 (CFHR2), mRNA.							175	158	164					1																	196927110		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196927110G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.520G>T	1.37:g.196927110G>T	ENSP00000356385:p.Val174Phe					CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	p.V174F	NM_005666	NP_005657	P36980	FHR2_HUMAN			3	597	+			174			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.520G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.654793	0.29425	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.70986	-0.53;-0.53	4.25	4.25	0.50352	Complement control module (2);Sushi/SCR/CCP (3);	0.280912	0.18984	N	0.125790	T	0.80819	0.4696	H	0.98866	4.355	0.18873	N	0.999981	B;B	0.29805	0.001;0.257	B;B	0.26416	0.006;0.069	T	0.77895	-0.2417	10	0.87932	D	0	.	9.5824	0.39495	0.0:0.0:0.7902:0.2098	.	147;174	P36980-2;P36980	.;FHR2_HUMAN	F	174	ENSP00000356391:V174F;ENSP00000356385:V174F	ENSP00000356385:V174F	V	+	1	0	CFHR2	195193733	0.994000	0.37717	0.120000	0.21714	0.041000	0.13682	2.564000	0.45931	1.881000	0.54492	0.514000	0.50259	GTT		0.403	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		T	196927110	G	T	196927110	3	4	120	1	0	0	0	0	1	0	0	0	3285	1029	36	5	534	5	CFHR2	1	196927110	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	35431653	196927110	52323511	5	8228											
PLB1	151056	broad.mit.edu	37	chr2	28741363	28741363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attctccattcccatgcaacCcaaataaattaggagtgaat	15	11	5	10	0	1	1	0	1	1	0	3	2	2	2	3	1	2	1	3	1	6	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr2:28741363C>A	ENST00000327757.5	+	3	192	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PLB1_ENST00000422425.2_Missense_Mutation_p.P50T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	50	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCATGCAACCCAAATAAATT	0.428																																						uc002rmb.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(148-150)Cca>Aca		Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.							152	141	145					2																	28741363		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28741363C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.148C>A	2.37:g.28741363C>A	ENSP00000330442:p.Pro50Thr					PLB1_uc010ezj.2_Missense_Mutation_p.P50T	p.P50T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			2	192	+	Acute lymphoblastic leukemia(172;0.155)		50			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.148C>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	2.290	-0.362647	0.05103	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.13196	2.71;2.61	5.68	1.75	0.24633	.	0.427030	0.22551	N	0.058593	T	0.11110	0.0271	M	0.61703	1.905	0.09310	N	0.999999	B;B	0.24823	0.112;0.017	B;B	0.24394	0.053;0.013	T	0.37820	-0.9689	10	0.11794	T	0.64	-1.3331	4.311	0.10971	0.2809:0.507:0.1359:0.0762	.	50;50	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	T	50	ENSP00000330442:P50T;ENSP00000416440:P50T	ENSP00000330442:P50T	P	+	1	0	PLB1	28594867	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	-0.316000	0.08071	0.102000	0.17638	0.655000	0.94253	CCA		0.428	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28741363	C	A	28741363	3	1	120	1	0	0	0	0	1	0	0	0	12024	623	22	5	158	5	PLB1	2	28741363	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		28741363	214458010	6	8229											
STK32B	55351	broad.mit.edu	37	chr4	5461833	5461833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctctaactgcagctcCtgaccaaggatcctgagagc	9	9	9	14	0	1	2	0	2	1	1	3	4	3	3	4	1	5	2	4	1	2	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:5461833C>T	ENST00000282908.5	+	9	1209	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000512636.1_Silent_p.L186L|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Silent_p.L216L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTGCAGCTCCTGACCAAGGA	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gih.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(787-789)Ctg>Ttg		Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.							90	80	84					4																	5461833		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5461833C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.787C>T	4.37:g.5461833C>T			OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	626	STK32B_uc010ida.1_Silent_p.L216L	p.L263L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			8	851	+			263			Protein kinase.			Silent	SNP	ENST00000282908.5	37	c.787C>T	CCDS3380.1																																																																																				0.552	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		T	5461833	C	T	5461833	2	4	120	1	0	0	0	0	0	0	0	1	15297	680	24	3		3	STK32B	4	5461833	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		5461833	185692443	7	8230											
ADH1B	125	broad.mit.edu	37	chr4	100232699	100232699	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataaacagcccccttccAggtgcgtccagtcagtagca	11	7	8	15	1	1	0	1	0	0	0	3	0	3	0	5	1	4	2	5	1	3	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:100232699A>C	ENST00000305046.8	-	7	1010	c.943T>G	c.(943-945)Tgg>Ggg	p.W315G	ADH1B_ENST00000394887.3_Missense_Mutation_p.W275G			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	315					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCCCCCTTCCAGGTGCGTCCA	0.433																																						uc003hus.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(943-945)Tgg>Ggg		Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						166	165	165					4																	100232699		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232699A>C	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.943T>G	4.37:g.100232699A>C	ENSP00000306606:p.Trp315Gly					ADH1B_uc003hut.4_Missense_Mutation_p.W275G|ADH1B_uc011ceh.2_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	p.W315G	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	1027	-			315					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.943T>G	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306095	0.60305	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.20200	2.09;2.09	3.66	3.66	0.41972	Alcohol dehydrogenase, C-terminal (1);	0.062072	0.64402	D	0.000001	T	0.53642	0.1809	M	0.92317	3.295	0.80722	D	1	P;P;D	0.76494	0.938;0.905;0.999	D;D;D	0.91635	0.953;0.961;0.999	T	0.65471	-0.6160	10	0.87932	D	0	-12.8538	12.2666	0.54681	1.0:0.0:0.0:0.0	.	302;275;315	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	G	315;275;302	ENSP00000306606:W315G;ENSP00000378351:W275G	ENSP00000306606:W315G	W	-	1	0	ADH1B	100451722	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.964000	0.63701	1.408000	0.46895	0.459000	0.35465	TGG		0.433	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		C	100232699	A	C	100232699	3	2	120	1	0	0	0	0	1	0	0	0	308	188	7	5	196	5	ADH1B	4	100232699	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08	94770866	100232699	90921577	8	8231											
TACR3	6870	broad.mit.edu	37	chr4	104640358	104640358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaagttctggaagcGgcagtagttggcgccaaagt	13	7	15	6	2	1	1	0	0	1	1	1	3	1	3	1	4	1	4	1	4	5	3	rs574875874		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:104640358G>A	ENST00000304883.2	-	1	615	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	159					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGAAGCGGCAGTAGTTG	0.542																																						uc003hxe.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(475-477)Cgc>Tgc		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.							81	75	77					4																	104640358		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640358G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.475C>T	4.37:g.104640358G>A	ENSP00000303325:p.Arg159Cys						p.R159C	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	0	616	-		Hepatocellular(203;0.217)	159					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.475C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034510	0.75617	.	.	ENSG00000169836	ENST00000304883	T	0.19669	2.13	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.380247	0.28343	N	0.015696	T	0.47135	0.1429	M	0.80332	2.49	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.49790	-0.8902	10	0.72032	D	0.01	.	12.9101	0.58175	0.0:0.0:0.8379:0.1621	.	159	P29371	NK3R_HUMAN	C	159	ENSP00000303325:R159C	ENSP00000303325:R159C	R	-	1	0	TACR3	104859807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.531000	0.60602	2.446000	0.82766	0.591000	0.81541	CGC		0.542	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		A	104640358	G	A	104640358	3	1	120	1	0	0	0	0	1	0	0	0	15504	1116	39	2	942	2	TACR3	4	104640358	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	4407659	104640358	86513918	9	8232											
VEGFC	7424	broad.mit.edu	37	chr4	177650867	177650867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctacactggacacagaccGtaactgctcctccagatctt	11	10	6	14	1	2	2	0	0	2	2	4	3	4	3	3	1	3	2	3	1	2	3	rs566826535	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:177650867G>A	ENST00000280193.2	-	2	596	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	61					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GACACAGACCGTAACTGCTCC	0.408													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		16441	0		0	False		,,,				2504	0					uc003ius.1																			0		p.R61P(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(181-183)Cgg>Tgg		Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.							86	79	81					4																	177650867		1913	4132	6045	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650867G>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.181C>T	4.37:g.177650867G>A	ENSP00000280193:p.Arg61Trp						p.R61W	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	1	611	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	61					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.181C>T	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118185	0.77323	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80405	-0.1396	9	0.87932	D	0	-14.0043	13.4772	0.61316	0.0:0.0:0.8434:0.1566	.	61	P49767	VEGFC_HUMAN	W	61	.	ENSP00000280193:R61W	R	-	1	2	VEGFC	177887861	1.000000	0.71417	0.794000	0.32065	0.914000	0.54420	5.840000	0.69402	2.466000	0.83321	0.484000	0.47621	CGG		0.408	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		A	177650867	G	A	177650867	3	1	120	1	0	0	0	0	1	0	0	0	17149	1144	40	1	1105	1	VEGFC	4	177650867	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	73010509	177650867	13503409	10	8233											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140705	140705	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctccagaggggccCaggctgcagcctgccacacc	9	3	12	17	0	0	2	0	0	0	2	1	2	1	2	6	3	4	3	6	3	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:140705C>T	ENST00000283426.6	+	1	333	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	95							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGGGCCCAGGCTGCAGC	0.662																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(283-285)Cag>Tag		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							14	19	17					5																	140705		2176	4274	6450	SO:0001587	stop_gained	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140705C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.283C>T	5.37:g.140705C>T	ENSP00000283426:p.Gln95*						p.Q95*	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	0	333	+			95						Nonsense_Mutation	SNP	ENST00000283426.6	37	c.283C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311483	0.40895	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	2.27	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	6.6109	0.22751	0.0:0.3243:0.6757:0.0	.	.	.	.	X	95;9	.	ENSP00000283426:Q95X	Q	+	1	0	PLEKHG4B	193705	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.649000	0.05384	-0.120000	0.11809	0.298000	0.19748	CAG		0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	140705	C	T	140705	4	4	120	1	0	0	0	0	0	1	0	0	12072	595	21	3	285	3	PLEKHG4B	5	140705	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		140705	180774555	11	8234											
SLC6A19	340024	broad.mit.edu	37	chr5	1216997	1216997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcggtgcaacgcctcCgaccccgcggcctacgcgca	7	3	12	19	7	0	0	0	0	0	0	1	1	1	0	5	2	5	3	5	2	2	1	rs564673494		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:1216997C>T	ENST00000304460.10	+	8	1166	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	370					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCAACGCCTCCGACCCCGCGG	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		21082	0		0	False		,,,				2504	0					uc003jbw.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1108-1110)tcC>tcT		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							166	154	158					5																	1216997		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216997C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1110C>T	5.37:g.1216997C>T							p.S370S	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	1166	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		370					A8K446	Silent	SNP	ENST00000304460.10	37	c.1110C>T	CCDS34130.1																																																																																				0.627	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1216997	C	T	1216997	2	4	120	1	0	0	0	0	0	0	0	1	14682	639	23	2		2	SLC6A19	5	1216997	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	1076292	1216997	179698263	12	8235											
SLIT3	6586	broad.mit.edu	37	chr5	168310294	168310294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacatcggtgatgccgCggaacgccttcctcgggatc	6	10	11	14	5	2	1	1	1	1	0	6	3	3	3	3	3	2	0	3	3	1	2	rs138901310		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:168310294C>T	ENST00000519560.1	-	5	880	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SLIT3_ENST00000404867.3_Missense_Mutation_p.R154H|SLIT3_ENST00000332966.8_Missense_Mutation_p.R154H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	154					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGATGCCGCGGAACGCCTT	0.502																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(460-462)cGc>cAc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	130	107	114		461	5	0.9	5	dbSNP_134	114	0,8600		0,0,4300	no	missense	SLIT3	NM_003062.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	154/1524	168310294	1,13005	2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310294C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.461G>A	5.37:g.168310294C>T	ENSP00000430333:p.Arg154His					SLIT3_uc003mab.3_Missense_Mutation_p.R154H|SLIT3_uc010jji.2_Missense_Mutation_p.R154H	p.R154H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	154					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.461G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971357	0.74246	2.27E-4	0.0	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.57436	0.4;0.4;0.4	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	N	0.13168	0.305	0.58432	D	0.999992	D;D	0.89917	0.965;1.0	P;D	0.97110	0.524;1.0	T	0.67608	-0.5627	10	0.87932	D	0	.	18.2459	0.89985	0.0:1.0:0.0:0.0	.	154;154	O75094-2;O75094	.;SLIT3_HUMAN	H	154	ENSP00000430333:R154H;ENSP00000332164:R154H;ENSP00000384890:R154H	ENSP00000332164:R154H	R	-	2	0	SLIT3	168242872	1.000000	0.71417	0.918000	0.36340	0.575000	0.36095	6.278000	0.72614	2.288000	0.76882	0.655000	0.94253	CGC		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168310294	C	T	168310294	3	4	120	1	0	0	0	0	1	0	0	0	14741	768	27	1	4238	1	SLIT3	5	168310294	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	167093297	168310294	12604966	13	8236											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	10	4	9	18	0	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						uc003nsh.2																			0		p.A132V(2)|p.S133R(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(397-399)Agc>Ggc		Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.							165	154	158					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S117G	p.S133G	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			1	648	+			133			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		G	30954349	A	G	30954349	3	3	120	1	0	0	0	0	1	0	0	0	9977	188	7	4	403	4	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08		30954349	140160718	14	8237											
TFAP2D	83741	broad.mit.edu	37	chr6	50696983	50696983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttaccagcaggaagaCggaaagcagctaatgtcacc	16	6	9	10	1	1	1	1	0	0	1	1	3	1	3	2	2	5	3	2	2	6	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:50696983C>T	ENST00000008391.3	+	5	1069	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGCAGGAAGACGGAAAGCAGC	0.423																																						uc003paf.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(841-843)Cgg>Tgg		Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.							164	145	151					6																	50696983		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696983C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.841C>T	6.37:g.50696983C>T	ENSP00000008391:p.Arg281Trp					TFAP2D_uc011dwt.2_Non-coding_Transcript	p.R281W	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			4	1353	+	Lung NSC(77;0.0334)		281			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.841C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214894	0.79352	.	.	ENSG00000008197	ENST00000008391	D	0.98105	-4.72	5.87	4.93	0.64822	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	-24.8685	11.5825	0.50900	0.3834:0.6166:0.0:0.0	.	281	Q7Z6R9	AP2D_HUMAN	W	281	ENSP00000008391:R281W	ENSP00000008391:R281W	R	+	1	2	TFAP2D	50804942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.557000	0.60782	2.785000	0.95823	0.591000	0.81541	CGG		0.423	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		T	50696983	C	T	50696983	3	4	120	1	0	0	0	0	1	0	0	0	15787	527	19	1	859	1	TFAP2D	6	50696983	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	19742634	50696983	120418084	15	8238											
EPB41L2	2037	broad.mit.edu	37	chr6	131277174	131277174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtttttcttccttgCtcactgagggtttttcttcc	3	19	9	10	0	3	2	1	2	2	0	5	2	5	2	2	2	1	3	2	2	0	7			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:131277174C>G	ENST00000337057.3	-	2	633	c.452G>C	c.(451-453)aGc>aCc	p.S151T	EPB41L2_ENST00000527659.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S151T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S151T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S151T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S151T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	151					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCCTTGCTCACTGAGGG	0.408																																						uc003qch.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(451-453)aGc>aCc		Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.							317	328	324					6																	131277174		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277174C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.452G>C	6.37:g.131277174C>G	ENSP00000338481:p.Ser151Thr					EPB41L2_uc010kfl.2_Missense_Mutation_p.S151T|EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.3_Missense_Mutation_p.S151T|EPB41L2_uc011eby.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T	p.S151T	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	1	634	-	Breast(56;0.0639)		151					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.452G>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128227	0.37533	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709;ENST00000532499;ENST00000526983	D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.82893	-1.65;-1.65;-1.65;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.65;-1.66;0.68;0.66;0.38	4.8	3.92	0.45320	.	1.627450	0.03255	N	0.182417	T	0.51075	0.1653	N	0.08118	0	0.24063	N	0.996004	B;B;B;B;B	0.27498	0.18;0.18;0.18;0.094;0.18	B;B;B;B;B	0.30105	0.111;0.071;0.111;0.037;0.071	T	0.52373	-0.8584	10	0.15066	T	0.55	.	11.1578	0.48497	0.0:0.9105:0.0:0.0895	.	151;151;151;151;151	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	T	151	ENSP00000434308:S151T;ENSP00000434576:S151T;ENSP00000402041:S151T;ENSP00000338481:S151T;ENSP00000376222:S151T;ENSP00000357110:S151T;ENSP00000436348:S151T;ENSP00000432803:S151T;ENSP00000431988:S151T;ENSP00000431647:S151T;ENSP00000436641:S151T;ENSP00000436871:S151T;ENSP00000432013:S151T;ENSP00000432329:S151T	ENSP00000338481:S151T	S	-	2	0	EPB41L2	131318867	0.586000	0.26782	0.233000	0.24025	0.410000	0.31052	0.570000	0.23653	1.333000	0.45449	0.655000	0.94253	AGC		0.408	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			G	131277174	C	G	131277174	3	3	120	1	0	0	0	0	1	0	0	0	5153	797	28	5	2637	5	EPB41L2	6	131277174	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	80580191	131277174	39837893	16	8239											
C6orf118	168090	broad.mit.edu	37	chr6	165715366	165715366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctctgacagcctccaCtggaaggaaatcctcctctg	8	9	7	17	0	2	1	0	1	2	0	6	3	5	3	6	2	1	0	6	2	2	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:165715366C>T	ENST00000230301.8	-	2	465	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	C6orf118_ENST00000543069.1_Missense_Mutation_p.V45M	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	149										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACAGCCTCCACTGGAAGGAAA	0.627																																						uc003qum.4																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(445-447)Gtg>Atg		Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.							59	69	65					6																	165715366		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715366C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.445G>A	6.37:g.165715366C>T	ENSP00000230301:p.Val149Met					C6orf118_uc011egi.1_Non-coding_Transcript	p.V149M	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	1	481	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	149					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.445G>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	6.693	0.496582	0.12762	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.15603	2.63;2.41	4.36	-1.92	0.07618	.	2.421730	0.01630	N	0.023461	T	0.02888	0.0086	N	0.21448	0.665	0.09310	N	1	B	0.22003	0.063	B	0.15870	0.014	T	0.33701	-0.9858	10	0.48119	T	0.1	.	1.1376	0.01758	0.1342:0.2433:0.3016:0.3208	.	149	Q5T5N4	CF118_HUMAN	M	149;45	ENSP00000230301:V149M;ENSP00000439288:V45M	ENSP00000230301:V149M	V	-	1	0	C6orf118	165635356	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.366000	0.02585	-0.791000	0.04486	-0.982000	0.02568	GTG		0.627	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		T	165715366	C	T	165715366	3	4	120	1	0	0	0	0	1	0	0	0	2323	565	20	3	996	3	C6orf118	6	165715366	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	34438192	165715366	5399701	17	8240											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	120	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		55221822	103916841	18	8241											
EGFR	1956	broad.mit.edu	37	chr7	55225428	55225428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacctagaaatcatacGcggcaggaccaagcaacagt	16	5	10	10	2	1	2	1	1	0	2	1	4	1	3	2	2	4	2	2	2	6	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55225428G>T	ENST00000275493.2	+	11	1457	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	EGFR_ENST00000455089.1_Missense_Mutation_p.R382L|EGFR_ENST00000344576.2_Missense_Mutation_p.R427L|EGFR_ENST00000342916.3_Missense_Mutation_p.R427L|EGFR_ENST00000442591.1_Missense_Mutation_p.R427L|EGFR_ENST00000454757.2_Missense_Mutation_p.R374L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	427					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAAATCATACGCGGCAGGACC	0.453		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1279-1281)cGc>cTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	85	89					7																	55225428		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55225428G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1280G>T	7.37:g.55225428G>T	ENSP00000275493:p.Arg427Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.R427L|EGFR_uc003tqj.3_Missense_Mutation_p.R427L|EGFR_uc022adm.1_Missense_Mutation_p.R427L|EGFR_uc010kzg.2_Missense_Mutation_p.R382L|EGFR_uc022adn.1_Missense_Mutation_p.R382L|EGFR_uc011kco.2_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	p.R427L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		10	1526	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		427					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1280G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854969	0.91355	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.93	5.93	0.95920	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.943;0.998;1.0;1.0	D	0.93078	0.6489	10	0.46703	T	0.11	.	18.9075	0.92469	0.0:0.0:1.0:0.0	.	382;427;427;427	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	382;427;297;427;427;427;374;221	ENSP00000415559:R382L;ENSP00000342376:R427L;ENSP00000345973:R427L;ENSP00000275493:R427L;ENSP00000410031:R427L;ENSP00000395243:R374L	ENSP00000275493:R427L	R	+	2	0	EGFR	55192922	1.000000	0.71417	0.927000	0.36925	0.837000	0.47467	7.562000	0.82300	2.815000	0.96918	0.561000	0.74099	CGC		0.453	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55225428	G	T	55225428	3	4	120	1	0	0	0	0	1	0	0	0	4967	1087	38	5	1333	5	EGFR	7	55225428	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	3606	55225428	103913235	19	8242											
CNPY4	245812	broad.mit.edu	37	chr7	99717380	99717380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtcatgggacctgtgCggttgggaatattgcttttc	5	16	13	7	1	1	0	1	0	0	0	2	2	1	2	1	3	2	3	1	3	2	6			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:99717380C>T	ENST00000262932.3	+	1	145	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	TAF6_ENST00000418432.2_5'Flank|TAF6_ENST00000437822.2_5'UTR|TAF6_ENST00000497233.1_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000453269.2_5'Flank|TAF6_ENST00000344095.4_5'Flank|TAF6_ENST00000452041.1_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	5						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGACCTGTGCGGTTGGGAAT	0.542																																						uc003uto.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(13-15)Cgg>Tgg		Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.							222	200	207					7																	99717380		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99717380C>T	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.13C>T	7.37:g.99717380C>T	ENSP00000262932:p.Arg5Trp					TAF6_uc003utm.3_5'Flank|TAF6_uc003uti.3_5'Flank|TAF6_uc003utk.3_5'Flank|TAF6_uc011kji.2_5'UTR	p.R5W	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN			0	116	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		5					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.13C>T	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147369	0.21288	.	.	ENSG00000166997	ENST00000262932	T	0.36157	1.27	4.98	4.1	0.47936	.	0.524894	0.19376	N	0.115767	T	0.19565	0.0470	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.15578	-1.0432	10	0.59425	D	0.04	-5.3842	9.6597	0.39947	0.0:0.905:0.0:0.095	.	5	Q8N129	CNPY4_HUMAN	W	5	ENSP00000262932:R5W	ENSP00000262932:R5W	R	+	1	2	CNPY4	99555316	0.799000	0.28903	0.207000	0.23584	0.002000	0.02628	0.698000	0.25571	1.465000	0.48006	-0.448000	0.05591	CGG		0.542	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		T	99717380	C	T	99717380	3	4	120	1	0	0	0	0	1	0	0	0	3630	759	27	1	15	1	CNPY4	7	99717380	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	44491952	99717380	59421283	20	8243											
SPDYE6	0	broad.mit.edu	37	chr7	101989079	101989079	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggaagatgttttgtttgGagtcctcgtcgtcctcctcc	5	15	11	10	2	0	1	0	0	0	1	6	3	4	3	4	2	0	2	4	2	1	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:101989079G>T								Y_RNA (11697 upstream) : PRKRIP1 (15264 downstream)																							GTTTTGTTTGGAGTCCTCGTC	0.557																																						uc011kkp.2																			0											c.(793-795)tCc>tAc		Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.							56	69	67					7																	101989079		127	614	741	SO:0001628	intergenic_variant	729597							g.chr7:101989079G>T																													7.37:g.101989079G>T						DQ601342_uc022aje.1_5'Flank	p.S265Y	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN			5	1215	-			265						Missense_Mutation	SNP		37	c.794C>A																																																																																				0	0.557									T	101989079	G	T	101989079	1	4	120	0	1	0	0	0	0	0	0	0	15032	1174	41	5		5	SPDYE6	7	101989079	IGR	SNP	G	TCGA-12-3650-01A-01D-1495-08	2271699	101989079	57149584	21	8244											
SPAM1	6677	broad.mit.edu	37	chr7	123594466	123594466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacactctatgtgcgcaatcGagttcgggaagccatcagag	11	9	11	10	3	2	1	1	0	1	1	4	3	2	2	1	1	3	2	1	1	4	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:123594466G>A	ENST00000439500.1	+	4	1455	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R281Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R281Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R281Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R281Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	281					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCGCAATCGAGTTCGGGAA	0.428																																						uc003vle.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(841-843)cGa>cAa		Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						90	84	86					7																	123594466		2203	4299	6502	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594466G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.842G>A	7.37:g.123594466G>A	ENSP00000402123:p.Arg281Gln					SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.R281Q|SPAM1_uc022aks.1_Missense_Mutation_p.R281Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R281Q|SPAM1_uc010lku.3_Missense_Mutation_p.R281Q	p.R281Q	NM_003117	NP_003108	P38567	HYALP_HUMAN			2	1281	+			281					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.842G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280394	0.95489	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	6.17	5.29	0.74685	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.118471	0.64402	D	0.000016	T	0.71213	0.3313	M	0.91663	3.23	0.42961	D	0.994407	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.79600	-0.1736	9	.	.	.	-44.4377	16.2224	0.82265	0.0:0.0:0.8664:0.1336	.	281;281	Q8TC30;P38567	.;HYALP_HUMAN	Q	281	ENSP00000386028:R281Q;ENSP00000417934:R281Q;ENSP00000345849:R281Q;ENSP00000402123:R281Q;ENSP00000223028:R281Q	.	R	+	2	0	SPAM1	123381702	1.000000	0.71417	0.341000	0.25589	0.322000	0.28314	5.635000	0.67841	1.618000	0.50286	0.655000	0.94253	CGA		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123594466	G	A	123594466	3	1	120	1	0	0	0	0	1	0	0	0	14986	1058	37	2	844	2	SPAM1	7	123594466	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	21605387	123594466	35544197	22	8245											
FLNC	2318	broad.mit.edu	37	chr7	128491526	128491526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggtctgtcactggccGtggagggcccatccaaggca	7	6	16	12	1	2	0	1	0	1	0	3	1	3	1	3	6	0	1	3	6	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:128491526G>A	ENST00000325888.8	+	35	5947	c.5686G>A	c.(5686-5688)Gtg>Atg	p.V1896M	FLNC_ENST00000346177.6_Missense_Mutation_p.V1863M|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1896					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCACTGGCCGTGGAGGGCCC	0.622																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5686-5688)Gtg>Atg		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							71	85	80					7																	128491526		2175	4284	6459	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491526G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5686G>A	7.37:g.128491526G>A	ENSP00000327145:p.Val1896Met					FLNC_uc003voa.4_Missense_Mutation_p.V1863M	p.V1896M	NM_001458	NP_001449	Q14315	FLNC_HUMAN			34	5895	+			1896					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5686G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335208	0.81801	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94723	-3.5;-3.5	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	M	0.83852	2.665	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.96869	0.9638	10	0.52906	T	0.07	.	13.3967	0.60858	0.0813:0.0:0.9187:0.0	.	1863;1896	Q14315-2;Q14315	.;FLNC_HUMAN	M	1896;1863	ENSP00000327145:V1896M;ENSP00000344002:V1863M	ENSP00000327145:V1896M	V	+	1	0	FLNC	128278762	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	3.384000	0.52478	2.652000	0.90054	0.655000	0.94253	GTG		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			A	128491526	G	A	128491526	3	1	120	1	0	0	0	0	1	0	0	0	5935	1145	40	1	5824	1	FLNC	7	128491526	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	4897060	128491526	30647137	23	8246											
SLC13A4	26266	broad.mit.edu	37	chr7	135376342	135376342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcgctggaatgaggaaGaggaggaagccaaggaagac	14	6	15	6	1	1	3	0	1	1	2	2	8	1	8	1	5	1	1	1	5	5	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:135376342G>A	ENST00000354042.4	-	12	1961	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	424					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAATGAGGAAGAGGAGGAAGC	0.478																																						uc003vtb.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1273-1275)ctC>ctT		Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.							89	81	83					7																	135376342		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376342G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1272C>T	7.37:g.135376342G>A						SLC13A4_uc003vta.3_Silent_p.L424L|C7orf73_uc003vsz.4_Non-coding_Transcript	p.L425L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			11	1964	-			424					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.1275C>T	CCDS5840.1																																																																																				0.478	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		A	135376342	G	A	135376342	2	1	120	1	0	0	0	0	0	0	0	1	14394	929	33	3		3	SLC13A4	7	135376342	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	6884816	135376342	23762321	24	8247											
CLU	1191	broad.mit.edu	37	chr8	27456003	27456003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgcggtattcctgcagCgctttctccgccacggtctc	3	15	9	14	4	2	0	0	0	2	0	5	0	3	0	3	2	3	3	3	2	1	5	rs144959547	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:27456003C>T	ENST00000316403.10	-	8	1719	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	CLU_ENST00000546343.1_Silent_p.A449A|CLU_ENST00000405140.3_Silent_p.A438A|CLU_ENST00000560366.1_Silent_p.A490A|CLU_ENST00000523500.1_Silent_p.A438A			P10909	CLUS_HUMAN	clusterin	438					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATTCCTGCAGCGCTTTCTCCG	0.542																																						uc003xfy.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(1345-1347)gcG>gcA		Homo sapiens clusterin (CLU), transcript variant 1, mRNA.							67	70	69					8																	27456003		2203	4300	6503	SO:0001819	synonymous_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27456003C>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.1314G>A	8.37:g.27456003C>T						CLU_uc003xfw.2_Silent_p.A438A|CLU_uc003xfx.2_Silent_p.A438A|CLU_uc003xfz.2_Silent_p.A438A	p.A449A	NM_001831	NP_001822	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	7	1494	-		Ovarian(32;2.61e-05)	438					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	c.1347G>A	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	2.147	-0.395414	0.04899	.	.	ENSG00000120885	ENST00000521770	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-26.6663	1.3283	0.02130	0.1394:0.3399:0.2301:0.2906	.	.	.	.	H	129	.	.	R	-	2	0	CLU	27511920	0.000000	0.05858	0.027000	0.17364	0.128000	0.20619	-4.567000	0.00214	-2.157000	0.00789	-0.140000	0.14226	CGC		0.542	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		T	27456003	C	T	27456003	2	4	120	1	0	0	0	0	0	0	0	1	3568	755	27	1		1	CLU	8	27456003	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		27456003	118908019	25	8248											
ZBTB10	65986	broad.mit.edu	37	chr8	81431744	81431744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaatcaggagaagtttGtatgtctctagatgattaac	13	13	11	4	0	2	4	1	2	1	2	3	6	2	5	0	2	1	2	0	2	5	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:81431744G>T	ENST00000430430.1	+	7	3376	c.2597G>T	c.(2596-2598)tGt>tTt	p.C866F	ZBTB10_ENST00000426744.2_Missense_Mutation_p.C842F|ZBTB10_ENST00000455036.3_Missense_Mutation_p.C866F|ZBTB10_ENST00000379091.4_Missense_Mutation_p.C574F	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	866					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GGAGAAGTTTGTATGTCTCTA	0.408																																						uc003ybx.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(2596-2598)tGt>tTt		Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.							80	81	81					8																	81431744		1943	4123	6066	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81431744G>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2597G>T	8.37:g.81431744G>T	ENSP00000387462:p.Cys866Phe					ZBTB10_uc003ybv.4_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.4_Missense_Mutation_p.C842F|ZBTB10_uc022awq.1_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.3_Missense_Mutation_p.C864F|ZBTB10_uc022awr.1_Non-coding_Transcript	p.C866F	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		5	3195	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		866					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.2597G>T	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455062	0.26161	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T	0.11821	2.74;2.84	5.54	4.64	0.57946	.	0.206931	0.44285	D	0.000477	T	0.09024	0.0223	N	0.24115	0.695	0.43879	D	0.996492	B;B;B;P	0.35575	0.001;0.001;0.001;0.51	B;B;B;B	0.35240	0.001;0.001;0.003;0.198	T	0.03555	-1.1025	10	0.02654	T	1	.	15.2947	0.73894	0.0:0.0:0.8546:0.1454	.	720;866;842;574	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	F	574;866;842;866;692	ENSP00000368384:C574F;ENSP00000387462:C866F	ENSP00000368384:C574F	C	+	2	0	ZBTB10	81594299	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.007000	0.70731	1.278000	0.44430	0.591000	0.81541	TGT		0.408	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		T	81431744	G	T	81431744	3	4	120	1	0	0	0	0	1	0	0	0	17520	1377	48	5	2619	5	ZBTB10	8	81431744	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	53975741	81431744	64932278	26	8249											
TAF1L	138474	broad.mit.edu	37	chr9	32630679	32630679	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacaaatatccttctcAagttgagtcaaatgctcatc	12	13	6	10	0	3	1	3	1	1	0	6	1	4	1	1	0	2	4	1	0	5	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:32630679A>T	ENST00000242310.4	-	1	4988	c.4899T>A	c.(4897-4899)ctT>ctA	p.L1633L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1633					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCCTTCTCAAGTTGAGTCA	0.448																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4897-4899)ctT>ctA		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							139	135	137					9																	32630679		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630679A>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4899T>A	9.37:g.32630679A>T						AX747113_uc003zrh.1_5'Flank	p.L1633L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	4989	-			1633					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4899T>A	CCDS35003.1																																																																																				0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32630679	A	T	32630679	2	4	120	1	0	0	0	0	0	0	0	1	15520	117	5	5		5	TAF1L	9	32630679	Silent	SNP	A	TCGA-12-3650-01A-01D-1495-08		32630679	108582752	27	8250											
OR13C9	286362	broad.mit.edu	37	chr9	107379535	107379535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacattttgcattcacttGctaaagaaccttctgttcgg	10	15	7	9	1	2	1	1	0	1	1	3	1	2	1	1	1	4	4	1	1	4	8			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:107379535G>A	ENST00000259362.1	-	1	950	c.951C>T	c.(949-951)agC>agT	p.S317S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCATTCACTTGCTAAAGAACC	0.353																																						uc011lvr.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(949-951)agC>agT		Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.							169	166	167					9																	107379535		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379535G>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.951C>T	9.37:g.107379535G>A							p.S317S	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			0	951	-			317					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.951C>T	CCDS35093.1																																																																																				0.353	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			A	107379535	G	A	107379535	2	1	120	1	0	0	0	0	0	0	0	1	10939	1310	46	3		3	OR13C9	9	107379535	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	74748856	107379535	33833896	28	8251											
SVEP1	79987	broad.mit.edu	37	chr9	113173765	113173765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatgagctatacaacgggGcatgtcttgaccttctgggg	10	10	13	8	1	2	2	0	2	2	0	2	3	2	2	1	4	3	2	1	4	4	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:113173765G>A	ENST00000401783.2	-	37	6562	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	SVEP1_ENST00000297826.5_Missense_Mutation_p.P2S|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2053S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2076	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAACGGGGCATGTCTTGA	0.483																																						uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6226-6228)Ccc>Tcc		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							46	46	46					9																	113173765		1888	4101	5989	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173765G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6226C>T	9.37:g.113173765G>A	ENSP00000384917:p.Pro2076Ser					SVEP1_uc010mty.3_Missense_Mutation_p.P2S	p.P2076S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			36	6563	-			2076			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6226C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921182	0.92249	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.76968	-1.06;-1.06;-0.87	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89562	0.3807	10	0.87932	D	0	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	2076	Q4LDE5	SVEP1_HUMAN	S	2076;2053;2	ENSP00000384917:P2076S;ENSP00000363593:P2053S;ENSP00000297826:P2S	ENSP00000297826:P2S	P	-	1	0	SVEP1	112213586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.622000	0.98378	2.847000	0.97988	0.591000	0.81541	CCC		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113173765	G	A	113173765	3	1	120	1	0	0	0	0	1	0	0	0	15417	1203	42	3	4537	3	SVEP1	9	113173765	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	5794230	113173765	28039666	29	8252											
ADAMTS13	11093	broad.mit.edu	37	chr9	136302931	136302931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcatcatgaagcgtggaGacagcttcctcgatgggacc	9	9	12	11	2	2	2	2	1	0	1	4	5	3	3	2	2	2	2	2	2	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:136302931G>A	ENST00000371929.3	+	13	1942	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D469N|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D500N|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.D172N|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	500	Cysteine-rich.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGCGTGGAGACAGCTTCCT	0.627																																						uc004cdv.4																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1498-1500)Gac>Aac		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.							94	91	92					9																	136302931		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136302931G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1498G>A	9.37:g.136302931G>A	ENSP00000360997:p.Asp500Asn					ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.4_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.4_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.D170N|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	p.D500N	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	12	1942	+			500					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1498G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488930	0.44249	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.42	4.51	0.55191	.	.	.	.	.	T	0.62829	0.2460	L	0.58354	1.805	0.27308	N	0.957382	P;B;B	0.35575	0.51;0.321;0.321	B;B;B	0.37780	0.174;0.2;0.258	T	0.57464	-0.7807	9	0.44086	T	0.13	.	8.6998	0.34318	0.0792:0.1534:0.7674:0.0	.	500;469;500	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	N	500;500;469;172	ENSP00000360997:D500N;ENSP00000347927:D500N;ENSP00000348997:D469N;ENSP00000444504:D172N	ENSP00000347927:D500N	D	+	1	0	ADAMTS13	135292752	0.281000	0.24258	0.991000	0.47740	0.735000	0.41995	1.599000	0.36751	1.239000	0.43787	0.655000	0.94253	GAC		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		A	136302931	G	A	136302931	3	1	120	1	0	0	0	0	1	0	0	0	258	942	33	3	1548	3	ADAMTS13	9	136302931	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	23129166	136302931	4910500	30	8253											
YME1L1	10730	broad.mit.edu	37	chr10	27415646	27415646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggaagtttacctccaaGaatagtaaatttttgtggat	12	17	8	4	0	0	1	0	0	0	1	1	3	1	3	2	2	1	2	2	2	7	8			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:27415646G>A	ENST00000326799.3	-	10	1247	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.L310F|YME1L1_ENST00000375972.3_Missense_Mutation_p.L277F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	367					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTACCTCCAAGAATAGTAAAT	0.274																																						uc001iti.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1099-1101)Ctt>Ttt		Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							44	45	44					10																	27415646		2198	4289	6487	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27415646G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1099C>T	10.37:g.27415646G>A	ENSP00000318480:p.Leu367Phe					YME1L1_uc001itj.3_Missense_Mutation_p.L310F|YME1L1_uc010qdl.2_Missense_Mutation_p.L277F	p.L367F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			9	1309	-			367					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1099C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102961	0.76983	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.80123	-1.34;-1.34;-1.34	4.89	4.89	0.63831	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.989	D	0.87747	0.2589	10	0.87932	D	0	-17.9958	10.203	0.43097	0.1564:0.0:0.8436:0.0	.	277;310;367	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	F	310;367;367;277;113	ENSP00000365184:L310F;ENSP00000318480:L367F;ENSP00000365139:L277F	ENSP00000318480:L367F	L	-	1	0	YME1L1	27455652	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	4.642000	0.61383	2.392000	0.81423	0.591000	0.81541	CTT		0.274	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		A	27415646	G	A	27415646	3	1	120	1	0	0	0	0	1	0	0	0	17484	942	33	3	1266	3	YME1L1	10	27415646	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		27415646	108119101	31	8254											
DRGX	644168	broad.mit.edu	37	chr10	50599244	50599244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtccggttccggcgcTgttttctacgcagaaacccg	6	10	11	14	7	1	1	0	0	1	1	4	1	3	1	3	2	2	4	3	2	2	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:50599244T>G	ENST00000374139.2	-	2	108	c.98A>C	c.(97-99)cAg>cCg	p.Q33P	DRGX_ENST00000434016.1_Missense_Mutation_p.Q38P			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	33					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTCCGGCGCTGTTTTCTACG	0.507																																						uc010qgq.2																			0		p.Q38H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						c.(112-114)cAg>cCg		Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.							59	58	59					10																	50599244		1924	4122	6046	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50599244T>G		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.98A>C	10.37:g.50599244T>G	ENSP00000363254:p.Gln33Pro					DRGX_uc021pqd.1_Missense_Mutation_p.Q33P	p.Q38P	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN			1	113	-			38						Missense_Mutation	SNP	ENST00000374139.2	37	c.113A>C		.	.	.	.	.	.	.	.	.	.	T	27.6	4.842725	0.91197	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95588	-3.75;-3.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96648	0.9479	10	0.72032	D	0.01	.	16.17	0.81801	0.0:0.0:0.0:1.0	.	38	C9JW76	.	P	33;38	ENSP00000363254:Q33P;ENSP00000401653:Q38P	ENSP00000363254:Q33P	Q	-	2	0	DRGX	50269250	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.434000	0.80377	2.224000	0.72417	0.459000	0.35465	CAG		0.507	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		G	50599244	T	G	50599244	3	3	120	1	0	0	0	0	1	0	0	0	4763	1580	55	5	712	5	DRGX	10	50599244	Missense_Mutation	SNP	T	TCGA-12-3650-01A-01D-1495-08	23183598	50599244	84935503	32	8255											
MUC5B	727897	broad.mit.edu	37	chr11	1274084	1274084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacggtggccaggtgcGtgggtgacaaccgtgtcgtc	6	8	16	11	4	0	1	0	1	0	0	2	1	0	1	2	4	3	1	2	4	1	0	rs369603904		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:1274084G>A	ENST00000529681.1	+	33	15149	c.15091G>A	c.(15091-15093)Gtg>Atg	p.V5031M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5034M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5031					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCAGGTGCGTGGGTGACAA	0.632																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15091-15093)Gtg>Atg		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.		G	MET/VAL	0,4278		0,0,2139	56	66	63		15091	3.9	0.1	11		63	2,8450		0,2,4224	no	missense	MUC5B	NM_002458.2	21	0,2,6363	AA,AG,GG		0.0237,0.0,0.0157	probably-damaging	5031/5763	1274084	2,12728	2139	4226	6365	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1274084G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15091G>A	11.37:g.1274084G>A	ENSP00000436812:p.Val5031Met						p.V5031M	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	32	15150	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5031					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15091G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040801	0.19669	0.0	2.37E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	4.86	3.93	0.45458	.	.	.	.	.	T	0.16214	0.0390	L	0.36672	1.1	0.09310	N	1	D;D	0.63880	0.993;0.993	B;B	0.44278	0.352;0.445	T	0.08806	-1.0704	9	0.87932	D	0	.	9.5817	0.39493	0.0:0.161:0.6837:0.1553	.	5353;5034	A7Y9J9;E9PBJ0	.;.	M	5031;5034;4975;4730	ENSP00000436812:V5031M;ENSP00000415793:V5034M	ENSP00000343037:V4975M	V	+	1	0	MUC5B	1230660	0.002000	0.14202	0.112000	0.21494	0.032000	0.12392	0.755000	0.26405	1.310000	0.45006	0.561000	0.74099	GTG		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1274084	G	A	1274084	3	1	120	1	0	0	0	0	1	0	0	0	9979	1145	40	1	15230	1	MUC5B	11	1274084	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		1274084	133732432	33	8256											
MS4A1	931	broad.mit.edu	37	chr11	60231772	60231772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacagtatattatttcCggatcactcctggcagcaac	10	15	6	10	1	1	0	1	0	0	0	3	1	3	1	2	2	3	3	2	2	5	7	rs201962059		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:60231772C>T	ENST00000534668.1	+	4	580	c.291C>T	c.(289-291)tcC>tcT	p.S97S	MS4A1_ENST00000345732.4_Silent_p.S97S|MS4A1_ENST00000532073.1_Silent_p.S97S|MS4A1_ENST00000389939.2_Silent_p.S97S|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	97					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	ATATTATTTCCGGATCACTCC	0.438																																						uc009yna.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(289-291)tcC>tcT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						70	69	69					11																	60231772		2203	4300	6503	SO:0001819	synonymous_variant	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60231772C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.291C>T	11.37:g.60231772C>T						MS4A1_uc009ymy.1_3'UTR|MS4A1_uc009ymz.3_Silent_p.S97S|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Silent_p.S97S|MS4A1_uc001npq.3_Silent_p.S97S	p.S97S	NM_152866	NP_690605	P11836	CD20_HUMAN			3	618	+			97					A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	ENST00000534668.1	37	c.291C>T	CCDS31570.1																																																																																				0.438	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			T	60231772	C	T	60231772	2	4	120	1	0	0	0	0	0	0	0	1	9854	639	23	2		2	MS4A1	11	60231772	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	58957688	60231772	74774744	34	8257											
PC	5091	broad.mit.edu	37	chr11	66637883	66637883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgccgctggatggagcAgtctcgctcgtacaggtgca	6	8	15	12	4	1	0	0	0	1	0	3	2	1	2	2	3	4	5	2	3	1	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:66637883A>C	ENST00000393958.2	-	8	886	c.793T>G	c.(793-795)Tgc>Ggc	p.C265G	PC_ENST00000524491.1_Missense_Mutation_p.C225G|PC_ENST00000393960.1_Missense_Mutation_p.C265G|PC_ENST00000355677.3_Missense_Mutation_p.C265G|PC_ENST00000393955.2_Missense_Mutation_p.C265G	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	265	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGATGGAGCAGTCTCGCTCG	0.602																																						uc001ojn.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(793-795)Tgc>Ggc		Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Biotin(DB00121)|Pyruvic acid(DB00119)						59	55	56					11																	66637883		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66637883A>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.793T>G	11.37:g.66637883A>C	ENSP00000377530:p.Cys265Gly					PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	p.C265G	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	6	842	-		Melanoma(852;0.0525)	265			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.793T>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977370	0.92982	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.81	5.81	0.92471	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99323	1.0907	10	0.87932	D	0	-29.106	14.1162	0.65154	1.0:0.0:0.0:0.0	.	265	P11498	PYC_HUMAN	G	265;265;265;225;265	ENSP00000377527:C265G;ENSP00000377530:C265G;ENSP00000377532:C265G;ENSP00000434192:C225G;ENSP00000347900:C265G	ENSP00000347900:C265G	C	-	1	0	PC	66394459	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.764000	0.91719	2.225000	0.72522	0.379000	0.24179	TGC		0.602	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		C	66637883	A	C	66637883	3	2	120	1	0	0	0	0	1	0	0	0	11497	188	7	5	2803	5	PC	11	66637883	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08	6406111	66637883	68368633	35	8258											
IQSEC3	440073	broad.mit.edu	37	chr12	247990	247990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgatggctttccgggaCgtcacggtgcagatcgccaa	8	9	12	12	4	2	2	2	1	0	1	4	3	3	3	2	3	1	2	2	3	1	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:247990C>T	ENST00000538872.1	+	4	1579	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.D487D|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.D184D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTTTCCGGGACGTCACGGTGC	0.731																																						uc001qhw.2																			0		p.N487K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1459-1461)gaC>gaT		Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.							38	34	35					12																	247990		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247990C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1461C>T	12.37:g.247990C>T						IQSEC3_uc001qhu.1_Silent_p.D184D|LOC574538_uc001qhv.1_Intron	p.D487D	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	3	1461	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		487					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.1461C>T	CCDS53728.1																																																																																				0.731	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		T	247990	C	T	247990	2	4	120	1	0	0	0	0	0	0	0	1	7819	535	19	1		1	IQSEC3	12	247990	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		247990	133603905	36	8259											
APOBEC1	339	broad.mit.edu	37	chr12	7805403	7805403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggggtcatagaagaCgtcaaactcccagggttcga	10	10	11	10	2	3	2	2	0	1	2	6	3	4	2	1	3	1	1	1	3	3	3	rs200390394		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:7805403C>T	ENST00000229304.4	-	3	93	c.73G>A	c.(73-75)Gtc>Atc	p.V25I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	25					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATAGAAGACGTCAAACTCC	0.483													C|||	1	0.000199681	0	0	5008	,	,		-128	0		0.001	False		,,,				2504	0				Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.3																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(73-75)Gtc>Atc		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.		C	ILE/VAL	0,4404		0,0,2202	48	49	48		73	-3.5	0	12		48	1,8597		0,1,4298	yes	missense	APOBEC1	NM_001644.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	25/237	7805403	1,13001	2202	4299	6501	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805403C>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.73G>A	12.37:g.7805403C>T	ENSP00000229304:p.Val25Ile					APOBEC1_uc001qtc.3_5'UTR	p.V25I	NM_001644	NP_001635	P41238	ABEC1_HUMAN			2	107	-			25					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.73G>A	CCDS8579.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.098	-1.156794	0.01686	0.0	1.16E-4	ENSG00000111701	ENST00000229304	T	0.62105	0.05	4.48	-3.52	0.04682	APOBEC-like, N-terminal (1);	2.818700	0.01049	N	0.004438	T	0.45377	0.1339	L	0.31294	0.92	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.10989	-1.0606	10	0.22706	T	0.39	1.3562	4.4737	0.11724	0.253:0.4743:0.0:0.2727	.	25	P41238	ABEC1_HUMAN	I	25	ENSP00000229304:V25I	ENSP00000229304:V25I	V	-	1	0	APOBEC1	7696670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.546000	0.06062	-0.539000	0.06273	-1.327000	0.01280	GTC		0.483	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		T	7805403	C	T	7805403	3	4	120	1	0	0	0	0	1	0	0	0	787	536	19	1	649	1	APOBEC1	12	7805403	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	7557413	7805403	126046492	37	8260											
PKP2	5318	broad.mit.edu	37	chr12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttttaggaacaggggaaCggcctccaacaaaatcattt	14	9	10	8	1	1	0	1	0	0	0	2	2	2	2	2	5	3	1	2	5	6	3	rs149542398	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:33031888C>T	ENST00000070846.6	-	2	326	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_ENST00000340811.4_Missense_Mutation_p.R101H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	101					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378																																						uc001rlj.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(301-303)cGt>cAt		Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96	92	93		302,302	0.7	0	12	dbSNP_134	93	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PKP2	NM_001005242.2,NM_004572.3	29,29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging	101/838,101/882	33031888	5,13001	2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031888C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.302G>A	12.37:g.33031888C>T	ENSP00000070846:p.Arg101His					PKP2_uc001rlk.4_Missense_Mutation_p.R101H|PKP2_uc010skj.2_Missense_Mutation_p.R101H	p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN			1	417	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		101					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.302G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893267	0.52121	2.27E-4	4.65E-4	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80994	-1.44;-1.4	5.7	0.708	0.18144	.	1.351310	0.04721	N	0.419289	T	0.71434	0.3339	L	0.47716	1.5	0.09310	N	1	B;B;B	0.18013	0.025;0.014;0.014	B;B;B	0.10450	0.005;0.002;0.003	T	0.52351	-0.8587	10	0.37606	T	0.19	-0.1096	1.4068	0.02283	0.1432:0.4165:0.1395:0.3008	.	101;101;101	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	101	ENSP00000342800:R101H;ENSP00000070846:R101H	ENSP00000070846:R101H	R	-	2	0	PKP2	32923155	0.000000	0.05858	0.004000	0.12327	0.872000	0.50106	-0.209000	0.09358	0.334000	0.23590	0.650000	0.86243	CGT		0.378	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		T	33031888	C	T	33031888	3	4	120	1	0	0	0	0	1	0	0	0	11985	536	19	1	2395	1	PKP2	12	33031888	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	25226485	33031888	100820007	38	8261											
PDZRN4	29951	broad.mit.edu	37	chr12	41967460	41967460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcagcgccgtcgccGtgagttcatgatgcgaagca	11	6	13	11	5	1	3	1	2	0	1	2	4	1	3	2	0	4	3	2	0	2	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:41967460G>A	ENST00000402685.2	+	10	2887	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R700H|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R702H	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	960	Poly-Arg.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGCCGTCGCCGTGAGTTCATG	0.527																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2878-2880)cGt>cAt		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.							76	70	72					12																	41967460		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967460G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2879G>A	12.37:g.41967460G>A	ENSP00000384197:p.Arg960His					PDZRN4_uc001rmq.4_Missense_Mutation_p.R702H|PDZRN4_uc009zjz.3_Missense_Mutation_p.R700H|PDZRN4_uc001rmr.3_Missense_Mutation_p.R587H	p.R960H	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN			9	2887	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	960			Poly-Arg.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2879G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969196	0.53614	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.42900	0.96;0.96;0.96	4.9	4.9	0.64082	.	0.090204	0.46758	D	0.000278	T	0.67439	0.2893	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	T	0.71755	-0.4497	10	0.87932	D	0	-19.2693	18.9769	0.92740	0.0:0.0:1.0:0.0	.	960;700;702	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	H	960;702;700	ENSP00000384197:R960H;ENSP00000439990:R702H;ENSP00000298919:R700H	ENSP00000298919:R700H	R	+	2	0	PDZRN4	40253727	1.000000	0.71417	0.520000	0.27837	0.035000	0.12851	9.813000	0.99286	2.656000	0.90262	0.557000	0.71058	CGT		0.527	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		A	41967460	G	A	41967460	3	1	120	1	0	0	0	0	1	0	0	0	11710	1145	40	1	2990	1	PDZRN4	12	41967460	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	8935572	41967460	91884435	39	8262											
ORAI1	84876	broad.mit.edu	37	chr12	122079482	122079482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacgagctggcggagtttgCccgcttacaggaccagctgg	8	7	14	12	3	0	0	0	0	0	0	0	3	0	2	2	4	5	4	2	4	2	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:122079482C>T	ENST00000330079.7	+	2	1038	c.845C>T	c.(844-846)gCc>gTc	p.A282V		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	280	Interaction with STIM1.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCGGAGTTTGCCCGCTTACAG	0.607																																						uc021rff.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(844-846)gCc>gTc		Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.							73	79	77					12																	122079482		2095	4229	6324	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079482C>T	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"ORAI calcium release-activated calcium modulators"	25896	protein-coding gene	gene with protein product	"calcium release-activated calcium modulator 1"	610277	"transmembrane protein 142A"	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.845C>T	12.37:g.122079482C>T	ENSP00000328216:p.Ala282Val						p.A282V	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	1	1038	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		280					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.845C>T	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157253	0.38119	.	.	ENSG00000182500	ENST00000330079	T	0.32272	1.46	5.29	5.29	0.74685	.	0.157943	0.56097	D	0.000026	T	0.22781	0.0550	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.05784	-1.0864	10	0.25106	T	0.35	-28.3482	19.2953	0.94119	0.0:1.0:0.0:0.0	.	280	Q96D31	CRCM1_HUMAN	V	282	ENSP00000328216:A282V	ENSP00000328216:A282V	A	+	2	0	ORAI1	120563865	1.000000	0.71417	0.916000	0.36221	0.130000	0.20726	7.257000	0.78362	2.640000	0.89533	0.467000	0.42956	GCC		0.607	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		T	122079482	C	T	122079482	3	4	120	1	0	0	0	0	1	0	0	0	11257	739	26	3	851	3	ORAI1	12	122079482	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	80112022	122079482	11772413	40	8263											
FOXO1	2308	broad.mit.edu	37	chr13	41134348	41134348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggctcatgctggattggCcatatgtatatttttggtag	9	15	12	5	0	1	0	1	0	0	0	1	1	1	1	1	4	1	4	1	4	5	7			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr13:41134348C>A	ENST00000379561.5	-	2	1664	c.1280G>T	c.(1279-1281)gGc>gTc	p.G427V	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	427	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GCTGGATTGGCCATATGTATA	0.488																																						uc001uxl.4																		PAX7/FOXO1(197)|PAX3/FOXO1(749)	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20						c.(1279-1281)gGc>gTc		Homo sapiens forkhead box O1 (FOXO1), mRNA.							129	115	120					13																	41134348		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134348C>A		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1280G>T	13.37:g.41134348C>A	ENSP00000368880:p.Gly427Val					FOXO1_uc010acc.1_Missense_Mutation_p.G242V	p.G427V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	1	1665	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	427					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1280G>T	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468161	0.43839	.	.	ENSG00000150907	ENST00000379561	D	0.94613	-3.47	5.78	5.78	0.91487	.	0.265875	0.42682	D	0.000663	D	0.94092	0.8106	M	0.74881	2.28	0.80722	D	1	P;B	0.45827	0.867;0.335	B;B	0.43103	0.408;0.116	D	0.94201	0.7450	10	0.62326	D	0.03	-16.1977	13.8862	0.63710	0.0:0.747:0.253:0.0	.	401;427	F8TAD1;Q12778	.;FOXO1_HUMAN	V	427	ENSP00000368880:G427V	ENSP00000368880:G427V	G	-	2	0	FOXO1	40032348	1.000000	0.71417	0.992000	0.48379	0.779000	0.44077	3.203000	0.51075	2.749000	0.94314	0.655000	0.94253	GGC		0.488	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		A	41134348	C	A	41134348	3	1	120	1	0	0	0	0	1	0	0	0	6023	739	26	5	691	5	FOXO1	13	41134348	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		41134348	74035530	41	8264											
CSPG4	1464	broad.mit.edu	37	chr15	75974722	75974722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggccccgcaccacaCggtagagcaggagctggggg	7	3	19	12	2	0	1	0	0	0	1	0	2	0	2	3	6	2	5	3	6	1	1	rs143855050	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:75974722C>T	ENST00000308508.5	-	8	4954	c.4862G>A	c.(4861-4863)cGt>cAt	p.R1621H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1621	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGCACCACACGGTAGAGCAG	0.662													C|||	9	0.00179712	0	0	5008	,	,		17643	0		0.004	False		,,,				2504	0.0051					uc002baw.3																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4861-4863)cGt>cAt		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.		C	HIS/ARG	5,4389	9.9+/-24.2	0,5,2192	39	43	41		4862	-5.1	0	15	dbSNP_134	41	32,8554	21.6+/-65.8	0,32,4261	no	missense	CSPG4	NM_001897.4	29	0,37,6453	TT,TC,CC		0.3727,0.1138,0.2851	benign	1621/2323	75974722	37,12943	2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75974722C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4862G>A	15.37:g.75974722C>T	ENSP00000312506:p.Arg1621His						p.R1621H	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			7	4955	-			1621			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4862G>A	CCDS10284.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.268	-0.994608	0.02145	0.001138	0.003727	ENSG00000173546	ENST00000308508	T	0.18810	2.19	4.91	-5.09	0.02920	.	1.433720	0.04499	N	0.380891	T	0.12305	0.0299	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32295	-0.9912	10	0.14252	T	0.57	.	7.9779	0.30166	0.1051:0.409:0.0:0.4859	.	1621	Q6UVK1	CSPG4_HUMAN	H	1621	ENSP00000312506:R1621H	ENSP00000312506:R1621H	R	-	2	0	CSPG4	73761777	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.760000	0.00786	-0.708000	0.05015	-2.250000	0.00283	CGT		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75974722	C	T	75974722	3	4	120	1	0	0	0	0	1	0	0	0	3960	536	19	1	2118	1	CSPG4	15	75974722	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		75974722	26556670	42	8265											
CHRNB4	1143	broad.mit.edu	37	chr15	78921864	78921864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacagtgtcatcttctcGccgcagtcggatggcaggta	8	10	12	11	3	3	0	1	0	2	0	5	1	3	1	1	3	1	4	1	3	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:78921864G>A	ENST00000261751.3	-	5	894	c.783C>T	c.(781-783)ggC>ggT	p.G261G	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	261					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TCATCTTCTCGCCGCAGTCGG	0.567																																						uc002bed.1																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(781-783)ggC>ggT		Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.							245	192	210					15																	78921864		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921864G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.783C>T	15.37:g.78921864G>A						CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G79G	p.G261G	NM_000750	NP_000741	P30926	ACHB4_HUMAN			4	895	-			261					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.783C>T	CCDS10306.1																																																																																				0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			A	78921864	G	A	78921864	2	1	120	1	0	0	0	0	0	0	0	1	3393	1074	38	1		1	CHRNB4	15	78921864	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	2947142	78921864	23609528	43	8266											
CACNG3	10368	broad.mit.edu	37	chr16	24372858	24372858	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaacatcagcagttaCgagccaaatcccactcggag	15	7	8	11	2	1	1	1	1	0	0	3	3	2	2	2	1	4	2	2	1	4	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:24372858C>T	ENST00000005284.3	+	4	1824	c.622C>T	c.(622-624)Cga>Tga	p.R208*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCAGCAGTTACGAGCCAAATC	0.488																																						uc002dmf.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(622-624)Cga>Tga		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.							121	113	116					16																	24372858		2197	4300	6497	SO:0001587	stop_gained	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372858C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.622C>T	16.37:g.24372858C>T	ENSP00000005284:p.Arg208*						p.R208*	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1824	+			208						Nonsense_Mutation	SNP	ENST00000005284.3	37	c.622C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	47	13.570529	0.99750	.	.	ENSG00000006116	ENST00000005284	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4112	17.8423	0.88718	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000005284:R208X	R	+	1	2	CACNG3	24280359	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.487000	0.81328	2.274000	0.75844	0.655000	0.94253	CGA		0.488	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24372858	C	T	24372858	4	4	120	1	0	0	0	0	0	1	0	0	2558	528	19	1	636	1	CACNG3	16	24372858	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		24372858	65981895	44	8267											
ABCC11	85320	broad.mit.edu	37	chr16	48210869	48210869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgatgcccaccacttcGtggccgcggatggtcaggtt	6	8	12	15	4	1	0	1	0	0	0	2	2	1	1	4	4	1	1	4	4	0	2	rs143002804		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:48210869G>A	ENST00000394747.1	-	24	3853	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.H1168H|ABCC11_ENST00000356608.2_Silent_p.H1168H|ABCC11_ENST00000394748.1_Silent_p.H1168H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1168	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.H1168H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCACCACTTCGTGGCCGCGGA	0.562																																						uc002eff.1																			1	Substitution - coding silent(1)	p.H1168H(2)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3502-3504)caC>caT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.		G	,,	1,4401	2.1+/-5.4	0,1,2200	128	101	110		3504,3504,3504	-9	0	16	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	1168/1383,1168/1383,1168/1345	48210869	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48210869G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3504C>T	16.37:g.48210869G>A						ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_Non-coding_Transcript	p.H1168H	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			23	3854	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1168			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3504C>T	CCDS10732.1																																																																																				0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48210869	G	A	48210869	2	1	120	1	0	0	0	0	0	0	0	1	51	1136	40	1		1	ABCC11	16	48210869	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	23838011	48210869	42143884	45	8268											
MAPK7	5598	broad.mit.edu	37	chr17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgagatgctggcccggCgccagctcttcccaggcaaa	7	8	13	13	2	1	1	0	1	1	1	2	2	2	1	3	4	2	3	3	4	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:19284297C>T	ENST00000308406.5	+	4	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	MAPK7_ENST00000395602.4_Missense_Mutation_p.R259C|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.R120C|MAPK7_ENST00000395604.3_Missense_Mutation_p.R259C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	259	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567																																						uc002gvn.3																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(775-777)Cgc>Tgc		Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.							36	37	37					17																	19284297		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284297C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.775C>T	17.37:g.19284297C>T	ENSP00000311005:p.Arg259Cys					B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.R120C|MAPK7_uc002gvq.3_Missense_Mutation_p.R259C|MAPK7_uc002gvp.3_Missense_Mutation_p.R259C	p.R259C	NM_139033	NP_620601	Q13164	MK07_HUMAN			3	1161	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		259			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.775C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611533	0.66558	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111501	0.64402	D	0.000019	T	0.79058	0.4382	M	0.79614	2.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.81491	-0.0909	10	0.87932	D	0	-15.6432	10.8063	0.46520	0.189:0.8109:0.0:0.0	.	259	Q13164	MK07_HUMAN	C	259;120;259;259	ENSP00000311005:R259C;ENSP00000299612:R120C;ENSP00000378968:R259C;ENSP00000378966:R259C	ENSP00000299612:R120C	R	+	1	0	MAPK7	19224890	0.977000	0.34250	1.000000	0.80357	0.964000	0.63967	2.479000	0.45197	2.335000	0.79485	0.561000	0.74099	CGC		0.567	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		T	19284297	C	T	19284297	3	4	120	1	0	0	0	0	1	0	0	0	9282	768	27	1	785	1	MAPK7	17	19284297	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		19284297	61910913	46	8269											
GAS2L2	246176	broad.mit.edu	37	chr17	34072485	34072485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcttaggggagccagtCggggctgccttccaggcttc	4	9	16	12	1	0	0	0	0	0	0	3	1	1	1	3	6	2	4	3	6	1	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:34072485C>T	ENST00000254466.6	-	6	2058	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	GAS2L2_ENST00000587565.1_Silent_p.P661P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	677					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGCCAGTCGGGGCTGCCT	0.612																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2029-2031)ccG>ccA		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							75	88	83					17																	34072485		2203	4298	6501	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072485C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2031G>A	17.37:g.34072485C>T							p.P677P	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	2059	-		Ovarian(249;0.17)	677					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.2031G>A	CCDS11298.1																																																																																				0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		T	34072485	C	T	34072485	2	4	120	1	0	0	0	0	0	0	0	1	6247	871	31	2		2	GAS2L2	17	34072485	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	14788188	34072485	47122725	47	8270											
LHX1	3975	broad.mit.edu	37	chr17	35297618	35297618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaatgcgcaggctgcgctCagggcatctcccctagcgac	8	6	11	16	3	2	0	1	0	1	0	3	1	2	0	3	2	3	4	3	2	2	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:35297618C>G	ENST00000254457.5	+	2	1613	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	68	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCTGCGCTCAGGGCATCTC	0.652																																						uc002hnh.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(202-204)Cag>Gag		Homo sapiens LIM homeobox 1 (LHX1), mRNA.							38	32	34					17																	35297618		2202	4300	6502	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297618C>G	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.202C>G	17.37:g.35297618C>G	ENSP00000254457:p.Gln68Glu					LHX1_uc010cux.1_5'UTR	p.Q68E	NM_005568	NP_005559	P48742	LHX1_HUMAN			1	925	+		Breast(25;0.00607)	68			LIM zinc-binding 2.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.202C>G	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955805	0.53293	.	.	ENSG00000132130	ENST00000254457	D	0.86694	-2.16	3.81	3.81	0.43845	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	T	0.81460	0.4827	L	0.39898	1.24	0.80722	D	1	P	0.38148	0.62	B	0.38683	0.279	T	0.78435	-0.2205	10	0.09084	T	0.74	.	16.9873	0.86344	0.0:1.0:0.0:0.0	.	68	P48742	LHX1_HUMAN	E	68	ENSP00000254457:Q68E	ENSP00000254457:Q68E	Q	+	1	0	LHX1	32371731	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.436000	0.82500	0.561000	0.74099	CAG		0.652	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		G	35297618	C	G	35297618	3	3	120	1	0	0	0	0	1	0	0	0	8770	827	29	5	208	5	LHX1	17	35297618	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	1225133	35297618	45897592	48	8271											
JUP	3728	broad.mit.edu	37	chr17	39919367	39919367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcgcagagcgcagacGgcaggctccgtgatgtcgtc	7	6	17	11	5	0	3	0	1	0	2	3	3	1	3	1	4	1	4	1	4	0	0	rs77375949	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:39919367G>A	ENST00000393931.3	-	8	1483	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.A455A|JUP_ENST00000393930.1_Silent_p.A455A	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	455					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGCGCAGACGGCAGGCTCCG	0.607													G|||	6	0.00119808	0.0015	0	5008	,	,		20523	0.003		0.001	False		,,,				2504	0				Colon(16;42 520 6044 17852 28530)	uc002hxq.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1363-1365)gcC>gcT		Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	122	96	105		1365,1365	-8.4	0.1	17	dbSNP_132	105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	JUP	NM_002230.2,NM_021991.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	455/746,455/746	39919367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919367G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1365C>T	17.37:g.39919367G>A						JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	p.A455A	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1642	-		Breast(137;0.000162)	455					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.1365C>T	CCDS11407.1																																																																																				0.607	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			A	39919367	G	A	39919367	2	1	120	1	0	0	0	0	0	0	0	1	7972	1103	39	2		2	JUP	17	39919367	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	4621749	39919367	41275843	49	8272											
C17orf46	124783	broad.mit.edu	37	chr17	43333194	43333194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgaaggtctgtggcgtggGcagccccatgttggagtgga	6	10	17	8	1	2	1	0	1	2	0	2	3	2	3	2	5	1	2	2	5	1	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:43333194G>A	ENST00000331780.4	-	4	450	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.P98S|MAP3K14-AS1_ENST00000592422.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	119					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGTGGCGTGGGCAGCCCCATG	0.557																																						uc002iis.1																			0											c.(355-357)Ccc>Tcc		Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.							134	128	130					17																	43333194		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43333194G>A	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.355C>T	17.37:g.43333194G>A	ENSP00000331532:p.Pro119Ser					LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.P98S	p.P119S	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			3	451	-			119					Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.355C>T	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	9.422	1.083247	0.20309	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.41758	1.0;0.99	3.36	-0.741	0.11112	.	2.178560	0.02556	N	0.096212	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	B	0.32245	0.361	B	0.29663	0.105	T	0.10683	-1.0619	10	0.07175	T	0.84	-5.0986	5.3065	0.15807	0.0:0.1817:0.3173:0.5009	.	119	Q96LK8	CQ046_HUMAN	S	119;98	ENSP00000331532:P119S;ENSP00000442724:P98S	ENSP00000331532:P119S	P	-	1	0	C17orf46	40688977	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.077000	0.14738	0.113000	0.18004	0.555000	0.69702	CCC		0.557	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		A	43333194	G	A	43333194	3	1	120	1	0	0	0	0	1	0	0	0	1857	1203	42	3	807	3	C17orf46	17	43333194	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	3413827	43333194	37862016	50	8273											
HOXB1	3211	broad.mit.edu	37	chr17	46607745	46607745	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgaaggtccgggccgtgggGgtgttaggttctgaagggca	6	9	19	7	3	1	1	0	1	1	0	3	2	2	1	2	6	0	3	2	6	3	2	rs199787001		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:46607745G>T	ENST00000239174.6	-	1	614	c.522C>A	c.(520-522)acC>acA	p.T174T	HOXB1_ENST00000577092.1_Silent_p.T174T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	174					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCGTGGGGGTGTTAGGTT	0.592																																						uc002ink.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(520-522)acC>acA		Homo sapiens homeobox B1 (HOXB1), mRNA.							61	60	60					17																	46607745		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607745G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.522C>A	17.37:g.46607745G>T						HOXB1_uc021tzf.1_Silent_p.T174T	p.T174T	NM_002144	NP_002135	P14653	HXB1_HUMAN			0	528	-			174					Q4VB03	Silent	SNP	ENST00000239174.6	37	c.522C>A	CCDS32675.1																																																																																				0.592	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			T	46607745	G	T	46607745	2	4	120	1	0	0	0	0	0	0	0	1	7299	1219	43	5		5	HOXB1	17	46607745	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	3274551	46607745	34587465	51	8274											
KIF19	124602	broad.mit.edu	37	chr17	72342551	72342551	+	Frame_Shift_Del	DEL	C	C	-																															gcagcgtatgaaggagggggCccacatcaaccgctcactgc																										TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72342551delC	ENST00000389916.4	+	8	950	c.812delC	c.(811-813)gccfs	p.A271fs		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	271	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGGAGGGGGCCCACATCAAC	0.597																																						uc002jkm.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(811-813)gccfs		Homo sapiens kinesin family member 19 (KIF19), mRNA.							62	40	48					17																	72342551		2187	4290	6477	SO:0001589	frameshift_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72342551delC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.812delC	17.37:g.72342551delC	ENSP00000374566:p.Ala271fs					KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	p.A271fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			7	950	+			271			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Frame_Shift_Del	DEL	ENST00000389916.4	37	c.812delC	CCDS32718.2																																																																																				0.597	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		-	72342551	C	-	72342551	7	5	120	1	0	1	0	1	0	0	0	0	8282	739	26	0	842	0	KIF19	17	72342551	Frame_Shift_Del	DEL	C	TCGA-12-3650-01A-01D-1495-08	25734806	72342551	8852659	52	8275											
CD300C	10871	broad.mit.edu	37	chr17	72539125	72539125	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctgtggtcgtcccGgctgtgggtgaaacacaggt	6	9	17	9	2	0	1	0	1	0	0	2	2	1	2	1	6	1	2	1	6	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72539125G>A	ENST00000330793.1	-	3	762	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	134	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGGTCGTCCCGGCTGTGGGTG	0.577																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.e3-1		Homo sapiens CD300c molecule (CD300C), mRNA.							113	97	102					17																	72539125		2203	4300	6503	SO:0001630	splice_region_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539125G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.401-1C>T	17.37:g.72539125G>A							p.A134_splice	NM_006678	NP_006669	Q08708	CLM6_HUMAN			3	762	-			134			Pro-rich.			Silent	SNP	ENST00000330793.1	37	c.401_splice	CCDS11701.1																																																																																				0.577	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678	Silent	A	72539125	G	A	72539125	5	1	120	1	0	0	0	0	0	0	1	0	2997	1130	39	2	280	2	CD300C	17	72539125	Splice_Site	SNP	G	TCGA-12-3650-01A-01D-1495-08	196574	72539125	8656085	53	8276											
C18orf21	83608	broad.mit.edu	37	chr18	33554930	33554930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggataactctcgagtgCgtctcaaacccaaagccagg	11	9	9	12	2	3	0	1	0	3	0	5	2	3	1	2	2	4	0	2	2	3	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr18:33554930C>T	ENST00000592875.1	+	3	818	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	58										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CTCTCGAGTGCGTCTCAAACC	0.373																																						uc002kzc.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						c.(172-174)Cgt>Tgt		Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.							102	104	103					18																	33554930		2203	4300	6503	SO:0001583	missense	83608							g.chr18:33554930C>T	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.172C>T	18.37:g.33554930C>T	ENSP00000465517:p.Arg58Cys					C18orf21_uc002kzd.3_5'UTR|C18orf21_uc021uit.1_Missense_Mutation_p.R58C|C18orf21_uc021uiu.1_5'UTR	p.R58C	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN			2	276	+			58					Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	c.172C>T	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457783	0.84317	.	.	ENSG00000141428	ENST00000333234	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.81645	-0.0839	9	0.87932	D	0	.	16.5327	0.84365	0.0:1.0:0.0:0.0	.	58	Q32NC0	CR021_HUMAN	C	58	.	ENSP00000329492:R58C	R	+	1	0	C18orf21	31808928	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.864000	0.62990	2.580000	0.87095	0.650000	0.86243	CGT		0.373	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		T	33554930	C	T	33554930	3	4	120	1	0	0	0	0	1	0	0	0	1897	768	27	1	182	1	C18orf21	18	33554930	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		33554930	44522318	54	8277											
MUC16	94025	broad.mit.edu	37	chr19	9062926	9062926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagtctctggtgacaCtgtgagctgagcaaagcctg	9	10	14	8	0	1	3	0	3	1	0	2	4	1	4	1	2	3	2	1	2	2	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:9062926C>T	ENST00000397910.4	-	3	24723	c.24520G>A	c.(24520-24522)Gtg>Atg	p.V8174M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8176	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTGACACTGTGAGCTGA	0.502																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24520-24522)Gtg>Atg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							129	125	127					19																	9062926		2084	4219	6303	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062926C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24520G>A	19.37:g.9062926C>T	ENSP00000381008:p.Val8174Met						p.V8174M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	24724	-			8176			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24520G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.897	-0.022752	0.07634	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	3.31	-6.62	0.01813	.	.	.	.	.	T	0.01287	0.0042	N	0.04880	-0.145	.	.	.	B	0.22414	0.069	B	0.17979	0.02	T	0.47535	-0.9110	8	0.87932	D	0	.	2.195	0.03908	0.1098:0.2957:0.3292:0.2653	.	8174	B5ME49	.	M	8174	ENSP00000381008:V8174M	ENSP00000381008:V8174M	V	-	1	0	MUC16	8923926	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.144000	0.01296	-2.747000	0.00376	0.508000	0.49915	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9062926	C	T	9062926	3	4	120	1	0	0	0	0	1	0	0	0	9973	565	20	3	19331	3	MUC16	19	9062926	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		9062926	50066057	55	8278											
TMEM38A	79041	broad.mit.edu	37	chr19	16790904	16790904	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttggggagccactgatCgattacttcagcaacaactc	10	10	8	13	1	1	1	1	1	0	0	4	3	2	2	2	2	5	1	2	2	3	3	rs144587502		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:16790904C>T	ENST00000187762.2	+	2	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602																																						uc002nes.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(232-234)atC>atT		Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.		C		0,4406		0,0,2203	62	50	54		234	-2.2	0.6	19	dbSNP_134	54	1,8599		0,1,4299	no	coding-synonymous	TMEM38A	NM_024074.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		78/300	16790904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16790904C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.234C>T	19.37:g.16790904C>T							p.I78I	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			1	325	+			78					A8K9P9	Silent	SNP	ENST00000187762.2	37	c.234C>T	CCDS12349.1																																																																																				0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		T	16790904	C	T	16790904	2	4	120	1	0	0	0	0	0	0	0	1	16156	874	31	2		2	TMEM38A	19	16790904	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	7727978	16790904	42338079	56	8279											
CCNE1	898	broad.mit.edu	37	chr19	30313489	30313489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaacatacagacccaCagagacagcttggatttgct	14	7	8	12	0	0	2	0	0	0	2	0	4	0	3	1	1	4	3	1	1	2	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:30313489C>G	ENST00000262643.3	+	11	1368	c.1089C>G	c.(1087-1089)caC>caG	p.H363Q	CCNE1_ENST00000357943.5_Missense_Mutation_p.H320Q|CCNE1_ENST00000444983.2_Missense_Mutation_p.H348Q	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	363					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TACAGACCCACAGAGACAGCT	0.507			A		serous ovarian																																	uc002nsn.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0		p.T362A(1)|p.H363N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(1087-1089)caC>caG		Homo sapiens cyclin E1 (CCNE1), mRNA.							171	174	173					19																	30313489		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313489C>G	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.1089C>G	19.37:g.30313489C>G	ENSP00000262643:p.His363Gln					CCNE1_uc002nso.3_Missense_Mutation_p.H348Q	p.H363Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		10	1272	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		363					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.1089C>G	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667312	0.47677	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.21932	1.98;1.98;1.98	6.17	-7.68	0.01268	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.87097	2.86	0.39678	D	0.970864	D	0.89917	1.0	D	0.91635	0.999	T	0.67352	-0.5692	10	0.54805	T	0.06	.	21.3502	0.99952	0.0:0.8558:0.0:0.1442	.	363	P24864	CCNE1_HUMAN	Q	363;320;348	ENSP00000262643:H363Q;ENSP00000350625:H320Q;ENSP00000410179:H348Q	ENSP00000262643:H363Q	H	+	3	2	CCNE1	35005329	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-0.339000	0.07832	-1.579000	0.01646	-0.140000	0.14226	CAC		0.507	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		G	30313489	C	G	30313489	3	3	120	1	0	0	0	0	1	0	0	0	2920	477	17	5	1127	5	CCNE1	19	30313489	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	13522585	30313489	28815494	57	8280											
ZNF569	148266	broad.mit.edu	37	chr19	37904887	37904887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaataagtttttccttgtGactgaaggcttttctacagt	9	19	7	6	0	1	2	0	2	1	0	2	2	2	2	1	1	1	2	1	1	4	9			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:37904887G>C	ENST00000316950.6	-	6	1230	c.673C>G	c.(673-675)Cac>Gac	p.H225D	ZNF569_ENST00000392149.2_Missense_Mutation_p.H225D|ZNF569_ENST00000392150.2_Missense_Mutation_p.H66D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCTTGTGACTGAAGGCT	0.348																																						uc002ogj.3																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(745-747)Cac>Gac		Homo sapiens zinc finger protein 569 (ZNF569), mRNA.							61	67	65					19																	37904887		2202	4299	6501	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904887G>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.673C>G	19.37:g.37904887G>C	ENSP00000325018:p.His225Asp					ZNF569_uc002ogh.3_Missense_Mutation_p.H66D|ZNF569_uc002ogi.3_Missense_Mutation_p.H225D	p.H249D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1677	-			225					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.745C>G	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060602	0.08339	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.19394	2.15;2.15	3.73	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.189760	0.25881	N	0.027683	T	0.09202	0.0227	N	0.10760	0.04	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.22880	0.042;0.025	T	0.21518	-1.0243	10	0.48119	T	0.1	.	4.6964	0.12806	0.2011:0.0:0.6233:0.1756	.	66;225	Q17RR6;Q5MCW4	.;ZN569_HUMAN	D	225;66	ENSP00000325018:H225D;ENSP00000375993:H66D	ENSP00000325018:H225D	H	-	1	0	ZNF569	42596727	0.000000	0.05858	0.145000	0.22337	0.993000	0.82548	-0.281000	0.08456	0.334000	0.23590	0.591000	0.81541	CAC		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		C	37904887	G	C	37904887	3	2	120	1	0	0	0	0	1	0	0	0	17997	1290	45	5	1391	5	ZNF569	19	37904887	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	7591398	37904887	21224096	58	8281											
EML2	24139	broad.mit.edu	37	chr19	46116829	46116829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcaggggtagctaaacagGtgaactttgccaaagtcatc	13	8	11	9	0	1	1	1	1	0	0	2	1	1	1	1	3	5	3	1	3	5	3	rs375442814		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:46116829G>A	ENST00000245925.3	-	18	1844	c.1794C>T	c.(1792-1794)caC>caT	p.H598H	EML2_ENST00000536630.1_Silent_p.H745H|EML2_ENST00000589876.1_Silent_p.H598H|EML2_ENST00000587152.1_Silent_p.H799H	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	598	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCTAAACAGGTGAACTTTGC	0.582																																						uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(2395-2397)caC>caT		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.							133	113	120					19																	46116829		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46116829G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1794C>T	19.37:g.46116829G>A						EML2_uc002pcn.3_Silent_p.H598H|EML2_uc002pcp.3_Silent_p.H482H|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.H745H	p.H799H	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	20	2470	-		Ovarian(192;0.179)|all_neural(266;0.224)	598					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.2397C>T	CCDS12670.1																																																																																				0.582	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		A	46116829	G	A	46116829	2	1	120	1	0	0	0	0	0	0	0	1	5097	1252	44	3		3	EML2	19	46116829	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	8211942	46116829	13012154	59	8282											
HCK	3055	broad.mit.edu	37	chr20	30681787	30681787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttggcctggcccgggTcattgaggacaacgagtaca	9	9	13	10	2	1	2	1	2	0	0	1	4	1	3	2	4	2	1	2	4	2	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:30681787T>C	ENST00000520553.1	+	11	1397	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	HCK_ENST00000375862.2_Missense_Mutation_p.V404A|HCK_ENST00000534862.1_Missense_Mutation_p.V385A|HCK_ENST00000375852.2_Missense_Mutation_p.V405A|HCK_ENST00000538448.1_Missense_Mutation_p.V384A|HCK_ENST00000518730.1_Missense_Mutation_p.V383A	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTGGCCCGGGTCATTGAGGAC	0.552																																						uc002wxh.3																			0		p.A404D(1)|p.P405S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1213-1215)gTc>gCc		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							173	137	149					20																	30681787		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30681787T>C	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1151T>C	20.37:g.30681787T>C	ENSP00000429848:p.Val384Ala					HCK_uc010gdy.3_Missense_Mutation_p.V385A|HCK_uc021wbv.1_Missense_Mutation_p.V384A|HCK_uc002wxi.3_Missense_Mutation_p.V383A	p.V405A	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1451	+			405			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1214T>C	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959935	0.74016	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	4.73	4.73	0.59995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.341443	0.26096	N	0.026375	T	0.77671	0.4165	N	0.21142	0.635	0.29584	N	0.848971	B;B	0.25206	0.099;0.12	B;B	0.36845	0.15;0.234	T	0.76911	-0.2784	10	0.87932	D	0	.	13.8616	0.63564	0.0:0.0:0.0:1.0	.	383;405	P08631-3;P08631	.;HCK_HUMAN	A	385;384;404;384;383;405	ENSP00000444986:V385A;ENSP00000441169:V384A;ENSP00000365022:V404A;ENSP00000429848:V384A;ENSP00000427757:V383A;ENSP00000365012:V405A	ENSP00000365012:V405A	V	+	2	0	HCK	30145448	0.999000	0.42202	0.911000	0.35937	0.877000	0.50540	7.733000	0.84916	2.127000	0.65507	0.443000	0.29094	GTC		0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			C	30681787	T	C	30681787	3	2	120	1	0	0	0	0	1	0	0	0	6994	1667	58	4	1262	4	HCK	20	30681787	Missense_Mutation	SNP	T	TCGA-12-3650-01A-01D-1495-08		30681787	32343733	60	8283											
C20orf132	140699	broad.mit.edu	37	chr20	35752057	35752057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgttctgtgtacaggCcacttgggatgtcgacatca	7	13	10	11	1	2	0	1	0	1	0	4	2	3	1	2	2	1	2	2	2	1	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:35752057C>T	ENST00000400441.3	-	15	1930	c.1931G>A	c.(1930-1932)gGc>gAc	p.G644D	MROH8_ENST00000441008.2_Missense_Mutation_p.G630D|MROH8_ENST00000217333.8_Missense_Mutation_p.G473D			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	55																	TGTGTACAGGCCACTTGGGAT	0.488																																						uc010zvu.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1930-1932)gGc>gAc		Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.							135	133	133					20																	35752057		2062	4192	6254	SO:0001583	missense	140699							g.chr20:35752057C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1931G>A	20.37:g.35752057C>T	ENSP00000383291:p.Gly644Asp					C20orf132_uc002xgk.3_Missense_Mutation_p.G276D	p.G644D	NM_152503	NP_689716	Q9H579	CT132_HUMAN			15	2022	-		Myeloproliferative disorder(115;0.00878)	55					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1931G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	6.207|6.207|6.207	0.406279|0.406279|0.406279	0.11754|0.11754|0.11754	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	.|T;T;T|.	.|0.03413|.	.|4.16;4.43;3.94|.	5.4|5.4|5.4	2.41|2.41|2.41	0.29592|0.29592|0.29592	.|.|.	.|0.517985|.	.|0.19275|.	.|N|.	.|0.118320|.	T|T|.	0.39708|0.39708|.	0.1088|0.1088|.	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.18873|0.18873|0.18873	N|N|N	0.999989|0.999989|0.999989	.|B;B|.	.|0.34372|.	.|0.451;0.356|.	.|B;B|.	.|0.34346|.	.|0.124;0.18|.	T|T|.	0.25117|0.25117|.	-1.0141|-1.0141|.	5|10|.	.|0.14656|.	.|T|.	.|0.56|.	-5.8295|-5.8295|-5.8295	6.5688|6.5688|6.5688	0.22527|0.22527|0.22527	0.0:0.7079:0.0:0.2921|0.0:0.7079:0.0:0.2921|0.0:0.7079:0.0:0.2921	.|.|.	.|644;478|.	.|E7ETR9;Q9H579-2|.	.|.;.|.	T|D|X	671|630;644;473|271	.|ENSP00000392144:G630D;ENSP00000383291:G644D;ENSP00000217333:G473D|.	.|ENSP00000217333:G473D|.	A|G|W	-|-|-	1|2|3	0|0|0	C20orf132|C20orf132|C20orf132	35185471|35185471|35185471	0.032000|0.032000|0.032000	0.19561|0.19561|0.19561	0.936000|0.936000|0.936000	0.37596|0.37596|0.37596	0.062000|0.062000|0.062000	0.15995|0.15995|0.15995	0.002000|0.002000|0.002000	0.13061|0.13061|0.13061	0.653000|0.653000|0.653000	0.30826|0.30826|0.30826	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GCC|GGC|TGG		0.488	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		T	35752057	C	T	35752057	3	4	120	1	0	0	0	0	1	0	0	0	2086	739	26	3	1237	3	C20orf132	20	35752057	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	5070270	35752057	27273463	61	8284											
HNF4A	3172	broad.mit.edu	37	chr20	43042366	43042366	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgggaccggatcagcactCgaaggtcaagctatgaggac	12	5	14	10	3	2	1	2	1	0	0	3	5	2	4	1	4	3	2	1	4	3	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:43042366C>T	ENST00000316099.4	+	4	507	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HNF4A_ENST00000609795.1_Nonsense_Mutation_p.R118*|HNF4A_ENST00000443598.2_Nonsense_Mutation_p.R140*|HNF4A_ENST00000316673.4_Nonsense_Mutation_p.R118*|HNF4A_ENST00000415691.2_Nonsense_Mutation_p.R140*|HNF4A_ENST00000457232.1_Nonsense_Mutation_p.R118*	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	140					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCAGCACTCGAAGGTCAAG	0.632																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(418-420)Cga>Tga		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							83	63	70					20																	43042366		2203	4300	6503	SO:0001587	stop_gained	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43042366C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.418C>T	20.37:g.43042366C>T	ENSP00000312987:p.Arg140*					HNF4A_uc002xlt.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.3_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.3_Nonsense_Mutation_p.R133*|HNF4A_uc002xlz.3_Nonsense_Mutation_p.R140*	p.R140*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	507	+		Myeloproliferative disorder(115;0.0122)	140					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Nonsense_Mutation	SNP	ENST00000316099.4	37	c.418C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476317	0.96291	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	.	.	.	5.16	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9454	0.58369	0.2947:0.7053:0.0:0.0	.	.	.	.	X	118;118;140;140;170;140	.	ENSP00000312987:R140X	R	+	1	2	HNF4A	42475780	0.982000	0.34865	0.432000	0.26747	0.757000	0.42996	2.488000	0.45276	1.154000	0.42482	-0.270000	0.10280	CGA		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			T	43042366	C	T	43042366	4	4	120	1	0	0	0	0	0	1	0	0	7253	876	31	2	485	2	HNF4A	20	43042366	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	7290309	43042366	19983154	62	8285											
ASMT	438	broad.mit.edu	37	chrX	1746635	1746635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagacgtttggcgttccCgctgaagagctttttacggc	6	12	13	10	4	0	3	0	1	0	2	1	4	1	3	1	3	2	4	1	3	2	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:1746635C>T	ENST00000381229.4	+	4	450	c.414C>T	c.(412-414)ccC>ccT	p.P138P	ASMT_ENST00000381241.3_Silent_p.P138P|ASMT_ENST00000381233.3_Silent_p.P138P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	138					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	TTGGCGTTCCCGCTGAAGAGC	0.388																																						uc004cqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(412-414)ccC>ccT		Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.			,,	0,4406		0,0,2203	260	247	251		414,414,414	-3	0	X		251	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,,	138/374,138/299,138/374	1746635	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1746635C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.414C>T	X.37:g.1746635C>T						ASMT_uc010ncy.3_Silent_p.P138P|ASMT_uc004cqe.3_Silent_p.P138P	p.P138P	NM_004043	NP_004034	P46597	HIOM_HUMAN			4	630	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	138					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.414C>T																																																																																					0.388	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		T	1746635	C	T	1746635	2	4	120	1	0	0	0	0	0	0	0	1	1045	639	23	2		2	ASMT	23	1746635	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		1746635	153523925	63	8286											
FIGF	2277	broad.mit.edu	37	chrX	15381369	15381369	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctcagagtgagtaattcGaagtagttcctccaaactag	12	11	9	9	1	1	2	1	1	0	1	5	3	4	2	3	0	1	3	3	0	5	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:15381369G>A	ENST00000297904.3	-	2	592	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	55					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGTAATTCGAAGTAGTTCC	0.453																																						uc004cwt.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(163-165)Cga>Tga		Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.							111	92	99					X																	15381369		2203	4300	6503	SO:0001587	stop_gained	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15381369G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.163C>T	X.37:g.15381369G>A	ENSP00000297904:p.Arg55*					FIGF_uc022bth.1_Non-coding_Transcript	p.R55*	NM_004469	NP_004460	O43915	VEGFD_HUMAN			1	630	-	Hepatocellular(33;0.183)		55					B2R7Z3	Nonsense_Mutation	SNP	ENST00000297904.3	37	c.163C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203665	0.95033	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.86	2.84	0.33178	.	0.701198	0.13784	N	0.363010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7022	11.4089	0.49915	0.0:0.1108:0.6305:0.2586	.	.	.	.	X	55	.	ENSP00000297904:R55X	R	-	1	2	FIGF	15291290	0.725000	0.28048	0.020000	0.16555	0.149000	0.21700	2.749000	0.47492	0.618000	0.30179	-0.975000	0.02590	CGA		0.453	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		A	15381369	G	A	15381369	4	1	120	1	0	0	0	0	0	1	0	0	5889	1066	37	2	925	2	FIGF	23	15381369	Nonsense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	13634734	15381369	139889191	64	8287											
KIAA1210	57481	broad.mit.edu	37	chrX	118221675	118221675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagccattttctctagtCgtgaggtcatttcctgaact	9	14	7	11	1	2	2	1	2	1	0	5	2	3	2	2	1	3	0	2	1	3	4	rs188369194		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:118221675C>T	ENST00000402510.2	-	11	3517	c.3518G>A	c.(3517-3519)cGa>cAa	p.R1173Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1173										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCTCTAGTCGTGAGGTCAT	0.468													C|||	1	0.000264901	8e-04	0	3775	,	,		14334	0		0	False		,,,				2504	0					uc004era.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3517-3519)cGa>cAa		Homo sapiens KIAA1210 (KIAA1210), mRNA.							59	53	55					X																	118221675		1859	4092	5951	SO:0001583	missense	57481							g.chrX:118221675C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3518G>A	X.37:g.118221675C>T	ENSP00000384670:p.Arg1173Gln						p.R1173Q	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			10	3518	-			1173					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3518G>A	CCDS48156.1	2	0.0012055455093429777	1	0.0020408163265306124	0	0.0	0	0.0	0	0.0	C	7.365	0.625566	0.14257	.	.	ENSG00000250423	ENST00000402510	T	0.10960	2.82	4.43	-4.09	0.03951	.	.	.	.	.	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	P	0.46656	0.882	B	0.36092	0.217	T	0.32348	-0.9910	9	0.13853	T	0.58	.	0.9695	0.01413	0.2526:0.1978:0.1228:0.4268	.	1173	Q9ULL0	K1210_HUMAN	Q	1173	ENSP00000384670:R1173Q	ENSP00000384670:R1173Q	R	-	2	0	RP13-347D8.6	118105703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.856000	0.00177	-1.328000	0.02261	-1.929000	0.00512	CGA		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118221675	C	T	118221675	3	4	120	1	0	0	0	0	1	0	0	0	8214	884	31	2	1627	2	KIAA1210	23	118221675	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	102840306	118221675	37048885	65	8288											
FLNA	2316	broad.mit.edu	37	chrX	153588591	153588591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcaatggtcagctccGcgctgcccgcgctcgagcag	7	7	12	15	5	2	1	2	0	1	1	5	2	3	1	2	1	3	4	2	1	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:153588591G>A	ENST00000369850.3	-	22	3808	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_ENST00000422373.1_Missense_Mutation_p.A1191V|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkk.2																			0				breast(6)	6						c.(3571-3573)gCg>gTg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							36	42	40					X																	153588591		2050	4158	6208	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588591G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3572C>T	X.37:g.153588591G>A	ENSP00000358866:p.Ala1191Val		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1191V	p.A1191V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3821	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1191					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3572C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702102	0.48307	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-2.94	4.92	4.92	0.64577	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.65874	0.939;0.934	D	0.97256	0.9901	10	0.87932	D	0	.	14.0254	0.64582	0.0:0.1597:0.8403:0.0	.	1191;1191	P21333-2;P21333	.;FLNA_HUMAN	V	1191;1164;1191;1191;1191	ENSP00000353467:A1191V;ENSP00000416926:A1191V;ENSP00000358866:A1191V;ENSP00000358863:A1191V	ENSP00000358863:A1191V	A	-	2	0	FLNA	153241785	1.000000	0.71417	0.076000	0.20297	0.130000	0.20726	3.423000	0.52756	2.043000	0.60533	0.525000	0.51046	GCG		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153588591	G	A	153588591	3	1	120	1	0	0	0	0	1	0	0	0	5933	1087	38	1	4479	1	FLNA	23	153588591	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	35366916	153588591	1681969	66	8289											
RAB39B	116442	broad.mit.edu	37	chrX	154490213	154490213	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccccttttaaccagctCatatatgtctcttgtcaggt	7	15	5	14	0	3	0	2	0	1	0	5	0	4	0	4	1	2	1	4	1	3	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:154490213C>A	ENST00000369454.3	-	2	817	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	173					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAACCAGCTCATATATGTCT	0.473																																						uc004fne.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(517-519)Gag>Tag		Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.							99	83	89					X																	154490213		2203	4300	6503	SO:0001587	stop_gained	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490213C>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.517G>T	X.37:g.154490213C>A	ENSP00000358466:p.Glu173*						p.E173*	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			1	796	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		173					Q5JT79|Q8NEX3	Nonsense_Mutation	SNP	ENST00000369454.3	37	c.517G>T	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	C	38	7.266866	0.98175	.	.	ENSG00000155961	ENST00000369454	.	.	.	5.17	5.17	0.71159	.	0.265325	0.36034	N	0.002823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.2574	0.73596	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000358466:E173X	E	-	1	0	RAB39B	154143407	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.420000	0.80191	2.280000	0.76307	0.513000	0.50165	GAG		0.473	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		A	154490213	C	A	154490213	4	1	120	1	0	0	0	0	0	1	0	0	12930	835	29	5	128	5	RAB39B	23	154490213	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	901622	154490213	780347	67	8290											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcccactgatctctGcctcccggtggctgctgaag	5	10	10	16	1	1	2	0	2	1	0	5	2	4	2	4	2	2	2	4	2	1	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:3394457G>A	ENST00000378378.4	+	11	1897	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	498					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622																																						uc001akg.4																			0				lung(6)|ovary(1)	7						c.(1492-1494)Gcc>Acc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.							45	50	48					1																	3394457		2181	4283	6464	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394457G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1492G>A	1.37:g.3394457G>A	ENSP00000367629:p.Ala498Thr					ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T	p.A498T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	10	1740	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	498					Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1492G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939813	0.34189	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.38	2.26	0.28386	Pleckstrin homology-type (1);	0.064498	0.64402	D	0.000007	T	0.67942	0.2947	M	0.70595	2.14	0.40914	D	0.984256	P;P	0.51240	0.943;0.943	P;P	0.52109	0.69;0.69	T	0.67337	-0.5696	10	0.44086	T	0.13	-22.0386	11.4753	0.50295	0.0:0.2558:0.6115:0.1327	.	202;498	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	498;210;210;202	ENSP00000367629:A498T;ENSP00000367624:A210T;ENSP00000367622:A210T;ENSP00000408887:A202T	ENSP00000367622:A210T	A	+	1	0	ARHGEF16	3384317	0.996000	0.38824	0.103000	0.21229	0.010000	0.07245	2.720000	0.47252	0.178000	0.19917	-0.312000	0.09012	GCC		0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3394457	G	A	3394457	3	1	121	1	0	0	0	0	1	0	0	0	899	1319	46	3	1530	3	ARHGEF16	1	3394457	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		3394457	245856164	1	8291											
ADCY10	55811	broad.mit.edu	37	chr1	167814945	167814945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttcttctaaaaagcGggcacatttcaagtgcatgg	11	11	10	9	1	4	0	1	0	3	0	4	0	4	0	0	3	2	3	0	3	4	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:167814945G>A	ENST00000367851.4	-	21	3047	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ADCY10_ENST00000367848.1_Missense_Mutation_p.R863C|ADCY10_ENST00000545172.1_Missense_Mutation_p.R802C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	955					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAAAAAGCGGGCACATTTC	0.488																																						uc001ger.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(2863-2865)Cgc>Tgc		Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.							121	115	117					1																	167814945		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167814945G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2863C>T	1.37:g.167814945G>A	ENSP00000356825:p.Arg955Cys					ADCY10_uc010plj.2_Missense_Mutation_p.R802C|ADCY10_uc009wvk.3_Missense_Mutation_p.R863C|ADCY10_uc009wvl.3_Missense_Mutation_p.R954C	p.R955C	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN			20	3161	-			955					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2863C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989926	0.54041	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.32023	1.47;1.47;1.47	5.93	4.03	0.46877	.	0.433433	0.22475	N	0.059563	T	0.30759	0.0775	L	0.50333	1.59	0.34358	D	0.690664	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66196	0.942;0.897;0.791	T	0.14755	-1.0461	9	0.44086	T	0.13	-5.2486	9.6861	0.40100	0.0:0.1537:0.6864:0.1599	.	802;863;955	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	C	802;955;863	ENSP00000441992:R802C;ENSP00000356825:R955C;ENSP00000356822:R863C	ENSP00000356822:R863C	R	-	1	0	ADCY10	166081569	1.000000	0.71417	0.995000	0.50966	0.817000	0.46193	1.812000	0.38952	0.821000	0.34540	0.655000	0.94253	CGC		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		A	167814945	G	A	167814945	3	1	121	1	0	0	0	0	1	0	0	0	293	1116	39	2	2021	2	ADCY10	1	167814945	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	164420488	167814945	81435676	2	8292											
KIAA1614	57710	broad.mit.edu	37	chr1	180904433	180904433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcgaagccgagttccGtcacctggagcggctgcagc	6	5	14	16	6	1	0	1	0	0	0	2	3	2	1	4	2	4	3	4	2	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:180904433G>A	ENST00000367588.4	+	5	1443	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R84H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	463										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGAGTTCCGTCACCTGGAG	0.731																																						uc001gok.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1387-1389)cGt>cAt		Homo sapiens KIAA1614 (KIAA1614), mRNA.							6	9	8					1																	180904433		1968	4082	6050	SO:0001583	missense	57710							g.chr1:180904433G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1388G>A	1.37:g.180904433G>A	ENSP00000356560:p.Arg463His					KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	p.R463H	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			4	1455	+			463					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1388G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714373	0.68730	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.63913	0.35;-0.07	4.84	4.84	0.62591	.	0.066636	0.64402	D	0.000011	T	0.76821	0.4041	L	0.61218	1.895	0.37966	D	0.933112	D	0.89917	1.0	D	0.91635	0.999	T	0.81152	-0.1063	9	0.87932	D	0	-23.1805	16.0774	0.80976	0.0:0.0:1.0:0.0	.	463	Q5VZ46	K1614_HUMAN	H	463;84	ENSP00000356560:R463H;ENSP00000356559:R84H	ENSP00000356559:R84H	R	+	2	0	KIAA1614	179171056	1.000000	0.71417	0.891000	0.34965	0.059000	0.15707	5.261000	0.65496	2.387000	0.81309	0.462000	0.41574	CGT		0.731	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		A	180904433	G	A	180904433	3	1	121	1	0	0	0	0	1	0	0	0	8248	1145	40	1	1406	1	KIAA1614	1	180904433	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	13089488	180904433	68346188	3	8293											
GLUL	2752	broad.mit.edu	37	chr1	182356407	182356407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaagtactagagccatCgaaattccactcaggcaact	14	9	7	11	1	1	1	1	0	0	1	3	2	2	1	2	1	3	3	2	1	6	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:182356407C>T	ENST00000331872.6	-	3	727	c.187G>A	c.(187-189)Gat>Aat	p.D63N	GLUL_ENST00000339526.4_Missense_Mutation_p.D63N|GLUL_ENST00000311223.5_Missense_Mutation_p.D63N|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.D63N	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	63					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CTAGAGCCATCGAAATTCCAC	0.473																																						uc001gpa.2																			0				endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16						c.(187-189)Gat>Aat		Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						87	89	89					1																	182356407		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182356407C>T	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.187G>A	1.37:g.182356407C>T	ENSP00000356537:p.Asp63Asn					GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.D63N|GLUL_uc001gpc.2_Missense_Mutation_p.D63N|GLUL_uc001gpd.2_Missense_Mutation_p.D63N	p.D63N	NM_001033056	NP_002056	P15104	GLNA_HUMAN			2	430	-			63					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.187G>A	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	36	5.602330	0.96614	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.95	4.95	0.65309	Glutamine synthetase, beta-Grasp (4);	0.044403	0.85682	D	0.000000	D	0.91331	0.7266	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93851	0.7145	10	0.87932	D	0	-22.4724	16.7257	0.85421	0.0:1.0:0.0:0.0	.	63	P15104	GLNA_HUMAN	N	63	ENSP00000356537:D63N;ENSP00000307900:D63N;ENSP00000398320:D63N;ENSP00000344958:D63N	ENSP00000307900:D63N	D	-	1	0	GLUL	180623030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.483000	0.81158	2.270000	0.75569	0.557000	0.71058	GAT		0.473	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		T	182356407	C	T	182356407	3	4	121	1	0	0	0	0	1	0	0	0	6478	884	31	2	954	2	GLUL	1	182356407	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	1451974	182356407	66894214	4	8294											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220359030	220359030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccattaaagtctgagtgatGtttctaaggcaagaaaatgg	14	12	10	5	0	2	3	0	2	2	1	3	3	3	3	1	2	0	2	1	2	6	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:220359030G>A	ENST00000358951.2	-	18	1949	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	611					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGAGTGATGTTTCTAAGGC	0.333																																						uc010puk.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1831-1833)aaC>aaT		Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.							106	102	104					1																	220359030		2203	4298	6501	SO:0001819	synonymous_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220359030G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1833C>T	1.37:g.220359030G>A						RAB3GAP2_uc021pjf.1_Silent_p.N611N|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.N191N	p.N611N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	17	1997	-			611					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	c.1833C>T	CCDS31028.1																																																																																				0.333	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		A	220359030	G	A	220359030	2	1	121	1	0	0	0	0	0	0	0	1	12936	1368	48	3		3	RAB3GAP2	1	220359030	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	38002623	220359030	28891591	5	8295											
HLX	3142	broad.mit.edu	37	chr1	221057616	221057616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaggacaaggacaaggAggctggcgagaagccatcag	16	2	14	9	1	1	1	1	0	0	1	1	5	1	4	2	5	1	1	2	5	5	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:221057616A>G	ENST00000366903.6	+	4	2538	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	HLX_ENST00000549319.1_Missense_Mutation_p.E132G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	346					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AAGGACAAGGAGGCTGGCGAG	0.667																																						uc001hmv.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1036-1038)gAg>gGg		Homo sapiens H2.0-like homeobox (HLX), mRNA.							40	44	43					1																	221057616		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057616A>G	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1037A>G	1.37:g.221057616A>G	ENSP00000355870:p.Glu346Gly						p.E346G	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	3	1494	+			346					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1037A>G	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486541	0.84854	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	T;T;T	0.54675	0.68;0.56;0.56	5.17	4.01	0.46588	.	0.347222	0.23640	N	0.046024	T	0.36248	0.0960	L	0.34521	1.04	0.45183	D	0.998198	P	0.40000	0.698	B	0.29862	0.108	T	0.16276	-1.0408	10	0.45353	T	0.12	-31.9242	11.4232	0.49993	0.8485:0.1515:0.0:0.0	.	346	Q14774	HLX_HUMAN	G	346;79;132	ENSP00000355870:E346G;ENSP00000408248:E79G;ENSP00000449882:E132G	ENSP00000355870:E346G	E	+	2	0	HLX	219124239	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	6.849000	0.75414	0.890000	0.36211	0.459000	0.35465	GAG		0.667	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		G	221057616	A	G	221057616	3	3	121	1	0	0	0	0	1	0	0	0	7216	304	11	4	1051	4	HLX	1	221057616	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	698586	221057616	28193005	6	8296											
HHIPL2	79802	broad.mit.edu	37	chr1	222705452	222705452	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgcaaagccataagtcGactagacaaaaaataaaccc	18	7	5	11	1	0	1	0	0	0	1	2	2	1	1	3	0	3	1	3	0	8	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:222705452G>A	ENST00000343410.6	-	6	1637	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	527					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCATAAGTCGACTAGACAAA	0.438																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.e6-1		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							51	53	52					1																	222705452		2203	4300	6503	SO:0001630	splice_region_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222705452G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1578-1C>T	1.37:g.222705452G>A							p.G526_splice	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	6	1636	-			526					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Nonsense_Mutation	SNP	ENST00000343410.6	37	c.1578_splice	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	39	7.388977	0.98252	.	.	ENSG00000143512	ENST00000343410	.	.	.	5.0	4.09	0.47781	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0315	12.8232	0.57704	0.0796:0.0:0.9204:0.0	.	.	.	.	X	527	.	ENSP00000342118:R527X	R	-	1	2	HHIPL2	220772075	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.296000	0.72751	1.091000	0.41335	0.591000	0.81541	CGA		0.438	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Nonsense_Mutation	A	222705452	G	A	222705452	5	1	121	1	0	0	0	0	0	0	1	0	7094	1072	37	2	611	2	HHIPL2	1	222705452	Splice_Site	SNP	G	TCGA-12-3652-01A-01D-1495-08	1647836	222705452	26545169	7	8297											
RYR2	6262	broad.mit.edu	37	chr1	237787140	237787151	+	In_Frame_Del	DEL	GATTTCCATGAA	GATTTCCATGAA	-																															aaattcgtgaccaactattgGatttccatgaagatttgatg																								rs369182325		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237787140_237787151delGATTTCCATGAA	ENST00000366574.2	+	39	6309_6320	c.5992_6003delGATTTCCATGAA	c.(5992-6003)gatttccatgaadel	p.DFHE1998del	RYR2_ENST00000360064.6_In_Frame_Del_p.DFHE1996del|RYR2_ENST00000542537.1_In_Frame_Del_p.DFHE1982del	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1998	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAACTATTGGATTTCCATGAAGATTTGATGA	0.307																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5992-6003)gatttccatgaadel		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.																																				SO:0001651	inframe_deletion	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237787140_237787151delGATTTCCATGAA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5992_6003delGATTTCCATGAA	1.37:g.237787140_237787151delGATTTCCATGAA	ENSP00000355533:p.Asp1998_Glu2001del						p.DFHE1998del	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	6112_6123	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1998			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	In_Frame_Del	DEL	ENST00000366574.2	37	c.5992_6003delGATTTCCATGAA	CCDS55691.1																																																																																				0.307	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		-	237787151	GATTTCCATGAA	-	237787140	7	5	121	1	0	1	0	1	0	0	0	0	13769	1174	41	0	6146	0	RYR2	1	237787140	In_Frame_Del	DEL	GATTTCCATGAA	TCGA-12-3652-01A-01D-1495-08	15081688	237787140	11463481	8	8298											
RYR2	6262	broad.mit.edu	37	chr1	237947552	237947552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacgtggtcaacgaaggCggagagaaagagaagatgga	15	6	16	4	3	1	4	1	1	0	3	1	9	1	6	0	4	1	0	0	4	4	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237947552C>T	ENST00000366574.2	+	90	12857	c.12540C>T	c.(12538-12540)ggC>ggT	p.G4180G	RYR2_ENST00000360064.6_Silent_p.G4186G|RYR2_ENST00000542537.1_Silent_p.G4164G|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4180					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAACGAAGGCGGAGAGAAAG	0.502																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12538-12540)ggC>ggT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							88	92	91					1																	237947552		1982	4175	6157	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947552C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12540C>T	1.37:g.237947552C>T						RYR2_uc010pya.2_Silent_p.G595G	p.G4180G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12660	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4180					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12540C>T	CCDS55691.1																																																																																				0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237947552	C	T	237947552	2	4	121	1	0	0	0	0	0	0	0	1	13769	755	27	1		1	RYR2	1	237947552	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	160412	237947552	11303069	9	8299											
ALMS1	7840	broad.mit.edu	37	chr2	73677648	73677648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgataccaattttaccctctActttctactcacacacagag	12	13	3	13	0	3	2	1	1	2	1	3	2	3	2	2	0	4	0	2	0	5	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:73677648A>G	ENST00000264448.6	+	8	4102	c.3991A>G	c.(3991-3993)Act>Gct	p.T1331A	ALMS1_ENST00000409009.1_Missense_Mutation_p.T1289A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1331A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1331	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTACCCTCTACTTTCTACTC	0.453																																						uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3991-3993)Act>Gct		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							135	134	134					2																	73677648		1842	4090	5932	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677648A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3991A>G	2.37:g.73677648A>G	ENSP00000264448:p.Thr1331Ala					ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.3_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	p.T1331A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			7	4102	+			1331			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3991A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	7.836	0.720962	0.15372	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13089	3.52;3.52;2.62	4.52	-7.11	0.01542	.	.	.	.	.	T	0.07052	0.0179	L	0.34521	1.04	0.09310	N	1	B;B;B	0.30146	0.003;0.27;0.003	B;B;B	0.28385	0.001;0.089;0.001	T	0.31110	-0.9955	9	0.28530	T	0.3	.	3.4755	0.07583	0.2299:0.1258:0.4815:0.1628	.	1331;1289;1331	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	A	1289;1331;1331	ENSP00000386627:T1289A;ENSP00000264448:T1331A;ENSP00000366944:T1331A	ENSP00000264448:T1331A	T	+	1	0	ALMS1	73531156	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.472000	0.02341	-1.347000	0.02208	0.529000	0.55759	ACT		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73677648	A	G	73677648	3	3	121	1	0	0	0	0	1	0	0	0	535	391	14	4	4021	4	ALMS1	2	73677648	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08		73677648	169521725	10	8300											
INPP1	3628	broad.mit.edu	37	chr2	191236128	191236128	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcagagacgcatacctaGaggaactctaaccccggtgt	11	7	10	13	2	1	2	0	0	1	2	1	4	1	3	4	2	4	2	4	2	4	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:191236128G>C	ENST00000322522.4	+	6	1656	c.1200G>C	c.(1198-1200)taG>taC	p.*400Y	INPP1_ENST00000392329.2_Nonstop_Mutation_p.*400Y|INPP1_ENST00000541441.1_Nonstop_Mutation_p.*400Y	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	0					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			CGCATACCTAGAGGAACTCTA	0.493																																					Melanoma(130;184 1743 2185 19805 38428)	uc002ury.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11						c.(1198-1200)taG>taC		Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	Lithium(DB01356)						38	38	38					2																	191236128		2203	4300	6503	SO:0001578	stop_lost	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191236128G>C		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1200G>C	2.37:g.191236128G>C	ENSP00000325423:p.*400Tyrext*10					INPP1_uc010fsb.3_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.4_Nonstop_Mutation_p.*400Y	p.*400Y	NM_001128928	NP_002185	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		6	1900	+			0						Nonstop_Mutation	SNP	ENST00000322522.4	37	c.1200G>C	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	G	8.147	0.786565	0.16189	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	.	.	.	4.88	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5527	0.12120	0.1861:0.0:0.64:0.1739	.	.	.	.	Y	400	.	.	X	+	3	2	INPP1	190944373	0.993000	0.37304	0.001000	0.08648	0.053000	0.15095	2.051000	0.41307	0.252000	0.21531	0.555000	0.69702	TAG		0.493	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			C	191236128	G	C	191236128	4	2	121	1	0	0	0	0	0	0	0	0	7751	937	33	5	1218	5	INPP1	2	191236128	Nonstop_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	117558480	191236128	51963245	11	8301											
CAV3	859	broad.mit.edu	37	chr3	8787341	8787341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtccacgctgctgggcGtcccactggccctgctctgg	2	11	13	15	2	1	0	0	0	1	0	3	0	3	0	3	3	2	4	3	3	0	1	rs112626848		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:8787341G>A	ENST00000343849.2	+	2	321	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000397368.2_Missense_Mutation_p.V82I|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	82	Required for interaction with DAG1.				actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCTGCTGGGCGTCCCACTGGC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		17219	0		0	False		,,,				2504	0					uc003bra.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(244-246)Gtc>Atc		Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.							105	80	89					3																	8787341		2203	4300	6503	SO:0001583	missense	859				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	g.chr3:8787341G>A	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.244G>A	3.37:g.8787341G>A	ENSP00000341940:p.Val82Ile					C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.V82I	p.V82I	NM_001234	NP_001225	P56539	CAV3_HUMAN			1	321	+			82			Required for interaction with DAG1.		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	c.244G>A	CCDS2569.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.011	-1.692579	0.00731	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.91894	-2.93;-2.93	4.63	2.75	0.32379	.	0.326406	0.31772	N	0.007090	T	0.65407	0.2688	N	0.00436	-1.5	0.33111	D	0.540566	B	0.13594	0.008	B	0.14023	0.01	T	0.66392	-0.5935	10	0.02654	T	1	-22.8487	3.5239	0.07752	0.2631:0.0:0.5553:0.1815	.	82	P56539	CAV3_HUMAN	I	82	ENSP00000341940:V82I;ENSP00000380525:V82I	ENSP00000341940:V82I	V	+	1	0	CAV3	8762341	0.998000	0.40836	0.865000	0.33974	0.030000	0.12068	3.410000	0.52664	1.169000	0.42739	-0.671000	0.03813	GTC		0.587	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		A	8787341	G	A	8787341	3	1	121	1	0	0	0	0	1	0	0	0	2695	1145	40	1	250	1	CAV3	3	8787341	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		8787341	189235089	12	8302											
RPL32	6161	broad.mit.edu	37	chr3	12880946	12880946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttttgttgcttccAtaaccaatgttgggcatcaa	8	19	7	7	0	1	0	1	0	0	0	2	0	2	0	2	1	2	5	2	1	3	8			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12880946A>G	ENST00000429711.2	-	3	279	c.180T>C	c.(178-180)taT>taC	p.Y60Y	RPL32_ENST00000396957.1_Silent_p.Y60Y|RPL32_ENST00000273223.6_Silent_p.Y78Y|RPL32_ENST00000435983.1_Silent_p.Y60Y|RPL32_ENST00000396953.2_Silent_p.Y60Y|SNORA7A_ENST00000384765.1_RNA	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	60					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTTGCTTCCATAACCAATGT	0.483																																						uc003bxl.3																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(178-180)taT>taC		Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.							212	214	214					3																	12880946		2203	4300	6503	SO:0001819	synonymous_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12880946A>G	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.180T>C	3.37:g.12880946A>G						RPL32_uc003bxm.3_Silent_p.Y60Y|RPL32_uc003bxn.3_Silent_p.Y60Y	p.Y60Y	NM_001007074	NP_001007075	P62910	RL32_HUMAN			1	393	-			60					B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	c.180T>C	CCDS2614.1																																																																																				0.483	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		G	12880946	A	G	12880946	2	3	121	1	0	0	0	0	0	0	0	1	13582	224	8	4		4	RPL32	3	12880946	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	4093605	12880946	185141484	13	8303											
IQSEC1	9922	broad.mit.edu	37	chr3	12977752	12977752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccgcatccagggccGgtgcctcctcagtgtgcagg	4	6	14	17	4	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	0	0	rs201771792		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12977752G>A	ENST00000273221.4	-	3	1022	c.806C>T	c.(805-807)cCg>cTg	p.P269L	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	269					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCCAGGGCCGGTGCCTCCTC	0.642																																						uc003bxt.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(805-807)cCg>cTg		Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.							63	62	63					3																	12977752		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977752G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.806C>T	3.37:g.12977752G>A	ENSP00000273221:p.Pro269Leu					IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	p.P269L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			2	815	-			269					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.806C>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	3.875	-0.027143	0.07589	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.42513	0.97;0.97	4.86	3.99	0.46301	.	1.220790	0.05365	N	0.534534	T	0.21718	0.0523	.	.	.	0.28471	N	0.915426	P;P;B	0.44776	0.591;0.843;0.261	B;B;B	0.27796	0.058;0.083;0.038	T	0.14337	-1.0476	9	0.28530	T	0.3	.	4.6279	0.12488	0.1785:0.0:0.5982:0.2233	.	255;255;269	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	L	269;255;255	ENSP00000273221:P269L;ENSP00000402299:P255L	ENSP00000273221:P269L	P	-	2	0	IQSEC1	12952752	1.000000	0.71417	0.047000	0.18901	0.002000	0.02628	2.934000	0.48956	1.273000	0.44346	-0.136000	0.14681	CCG		0.642	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		A	12977752	G	A	12977752	3	1	121	1	0	0	0	0	1	0	0	0	7817	1116	39	2	2678	2	IQSEC1	3	12977752	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	96806	12977752	185044678	14	8304											
ZNF385D	79750	broad.mit.edu	37	chr3	21606168	21606168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttattacagctttctgaatCgggtccatctgtaatgagaa	11	15	8	7	1	2	2	0	2	2	1	4	3	3	2	1	1	2	2	1	1	5	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:21606168C>T	ENST00000281523.2	-	3	692	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	58						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTCTGAATCGGGTCCATCT	0.358																																						uc003cce.3																			0		p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(172-174)ccG>ccA		Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							116	114	115					3																	21606168		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606168C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.174G>A	3.37:g.21606168C>T						ZNF385D_uc010hfb.1_Non-coding_Transcript	p.P58P	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			2	582	-			58						Silent	SNP	ENST00000281523.2	37	c.174G>A	CCDS2636.1																																																																																				0.358	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		T	21606168	C	T	21606168	2	4	121	1	0	0	0	0	0	0	0	1	17875	871	31	2		2	ZNF385D	3	21606168	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	8628416	21606168	176416262	15	8305											
PRR23A	729627	broad.mit.edu	37	chr3	138724917	138724917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgcagggcacagcccGcggccaggaccactatggag	10	2	14	15	3	0	0	0	0	0	0	0	2	0	2	3	4	1	3	3	4	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:138724917G>A	ENST00000383163.2	-	1	193	c.194C>T	c.(193-195)gCg>gTg	p.A65V	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	65										endometrium(3)|kidney(1)|lung(7)	11						GGCACAGCCCGCGGCCAGGAC	0.721																																						uc011bms.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(193-195)gCg>gTg		Homo sapiens proline rich 23A (PRR23A), mRNA.							8	12	11					3																	138724917		682	1571	2253	SO:0001583	missense	729627							g.chr3:138724917G>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.194C>T	3.37:g.138724917G>A	ENSP00000372649:p.Ala65Val						p.A65V	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			0	194	-			65						Missense_Mutation	SNP	ENST00000383163.2	37	c.194C>T	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603205	0.46423	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.65	0.63	0.17693	.	1.656350	0.03654	N	0.241435	T	0.36110	0.0955	L	0.55481	1.735	0.09310	N	1	D	0.58268	0.982	B	0.42522	0.39	T	0.36529	-0.9744	9	0.66056	D	0.02	.	6.8768	0.24151	0.0:0.0:0.5013:0.4987	.	65	A6NEV1	PR23A_HUMAN	V	65	.	ENSP00000372649:A65V	A	-	2	0	PRR23A	140207607	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.073000	0.14640	0.151000	0.19162	0.491000	0.48974	GCG		0.721	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		A	138724917	G	A	138724917	3	1	121	1	0	0	0	0	1	0	0	0	12594	1087	38	1	610	1	PRR23A	3	138724917	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	117118749	138724917	59297513	16	8306											
MAN2B2	23324	broad.mit.edu	37	chr4	6578364	6578364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggaagagctggcccgCggccagcagcgccggttcat	6	6	17	12	4	1	1	1	0	0	1	1	2	1	2	3	5	3	3	3	5	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627																																						uc003gjf.1																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(196-198)cgC>cgT		Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.							59	62	61					4																	6578364		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578364C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.198C>T	4.37:g.6578364C>T						MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	p.R66R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			1	234	+			66					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.198C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	2.107	-0.404625	0.04832	.	.	ENSG00000013288	ENST00000505907	.	.	.	3.89	-7.79	0.01218	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.24537	N	0.994085	.	.	.	.	.	.	T	0.20840	-1.0263	4	.	.	.	-9.2647	1.1794	0.01842	0.3625:0.1625:0.0955:0.3796	.	.	.	.	V	65	.	.	A	+	2	0	MAN2B2	6629265	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.329000	0.19698	-1.711000	0.01395	-1.056000	0.02311	GCG		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		T	6578364	C	T	6578364	2	4	121	1	0	0	0	0	0	0	0	1	9217	755	27	1		1	MAN2B2	4	6578364	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08		6578364	184575912	17	8307											
PCDH7	5099	broad.mit.edu	37	chr4	30726111	30726111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaccaggccgtacaaGatctaccaccagccaacaca	18	3	5	15	1	1	1	0	0	1	1	1	1	1	1	5	1	5	1	5	1	6	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:30726111G>T	ENST00000361762.2	+	1	4075	c.3067G>T	c.(3067-3069)Gat>Tat	p.D1023Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D1023Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1023					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCCGTACAAGATCTACCACC	0.468																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3067-3069)Gat>Tat		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							98	100	99					4																	30726111		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30726111G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3067G>T	4.37:g.30726111G>T	ENSP00000355243:p.Asp1023Tyr					PCDH7_uc011bxx.2_Missense_Mutation_p.D1023Y|PCDH7_uc021xnd.1_Missense_Mutation_p.D1023Y|PCDH7_uc021xnc.1_Missense_Mutation_p.D1023Y	p.D1023Y	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	4075	+			1023					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.3067G>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.72|16.72	3.200685|3.200685	0.58126|0.58126	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.38887|.	1.11;1.11|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.71937|0.71937	0.3399|0.3399	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79108|.	0.979;0.979;0.992|.	T|T	0.69928|0.69928	-0.5012|-0.5012	9|5	0.87932|.	D|.	0|.	.|.	18.0082|18.0082	0.89215|0.89215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1023;976;1023|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Y|I	1023;1023;976|712	ENSP00000355243:D1023Y;ENSP00000441802:D1023Y|.	ENSP00000330302:D976Y|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30335209|30335209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.263000|9.263000	0.95617|0.95617	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30726111	G	T	30726111	3	4	121	1	0	0	0	0	1	0	0	0	11516	942	33	5	3069	5	PCDH7	4	30726111	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	24147747	30726111	160428165	18	8308											
KLB	152831	broad.mit.edu	37	chr4	39435838	39435838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttcttttaggctcactcGaaagtttggcataactacaa	11	15	6	9	1	3	0	1	0	2	0	4	1	3	0	0	2	2	3	0	2	5	7			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:39435838G>A	ENST00000257408.4	+	2	931	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	278	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTCACTCGAAAGTTTGGC	0.413																																						uc003gua.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(832-834)tcG>tcA		Homo sapiens klotho beta (KLB), mRNA.							76	68	71					4																	39435838		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39435838G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.834G>A	4.37:g.39435838G>A						KLB_uc011byj.2_Silent_p.S278S	p.S278S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			1	931	+			278			Glycosyl hydrolase-1 1.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.834G>A	CCDS3451.1																																																																																				0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		A	39435838	G	A	39435838	2	1	121	1	0	0	0	0	0	0	0	1	8332	1045	37	2		2	KLB	4	39435838	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	8709727	39435838	151718438	19	8309											
NPFFR2	10886	broad.mit.edu	37	chr4	73012972	73012972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcccctctccctcattGtcatcatgtatggaaggatt	7	14	8	12	0	4	0	3	0	1	0	6	2	5	2	3	3	0	2	3	3	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:73012972G>T	ENST00000308744.6	+	4	1110	c.1012G>T	c.(1012-1014)Gtc>Ttc	p.V338F	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.V236F|NPFFR2_ENST00000395999.1_Missense_Mutation_p.V239F|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	338					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCTCATTGTCATCATGTA	0.517																																						uc003hgg.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1012-1014)Gtc>Ttc		Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.							90	77	82					4																	73012972		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012972G>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1012G>T	4.37:g.73012972G>T	ENSP00000307822:p.Val338Phe					NPFFR2_uc010iig.2_Missense_Mutation_p.V120F|NPFFR2_uc003hgi.2_Missense_Mutation_p.V239F|NPFFR2_uc003hgh.2_Missense_Mutation_p.V236F	p.V338F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		3	1110	+			338					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1012G>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757013	0.49362	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.72942	-0.7;-0.7;-0.7	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.121832	0.37219	N	0.002198	T	0.76248	0.3961	L	0.55743	1.74	0.80722	D	1	P;P	0.47253	0.721;0.892	B;P	0.52031	0.373;0.688	T	0.69540	-0.5118	10	0.20046	T	0.44	.	19.9007	0.96985	0.0:0.0:1.0:0.0	.	239;338	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	F	338;239;236	ENSP00000307822:V338F;ENSP00000379321:V239F;ENSP00000351599:V236F	ENSP00000307822:V338F	V	+	1	0	NPFFR2	73231836	1.000000	0.71417	0.990000	0.47175	0.002000	0.02628	6.501000	0.73691	2.791000	0.96007	0.655000	0.94253	GTC		0.517	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		T	73012972	G	T	73012972	3	4	121	1	0	0	0	0	1	0	0	0	10578	1377	48	5	1032	5	NPFFR2	4	73012972	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	33577134	73012972	118141304	20	8310											
TMSL3	401145	broad.mit.edu	37	chr4	91760137	91760137	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgtctctgtcttcttcaGtttcggcttatcgaatttct	4	20	7	10	3	5	0	1	0	4	0	8	1	5	0	0	1	1	2	0	1	2	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:91760137G>C	ENST00000509176.1	+	8	2382				CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		GTCTTCTTCAGTTTCGGCTTA	0.522																																						uc003hsv.4																			0				NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22								Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.							139	151	147					4																	91760137		1511	2707	4218	SO:0001627	intron_variant	7117							g.chr4:91760137G>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2094+23141G>C	4.37:g.91760137G>C						FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.3_Intron		NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN					+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37		CCDS47099.1	.	.	.	.	.	.	.	.	.	.	g	5.598	0.295074	0.10622	.	.	ENSG00000187653	ENST00000402089;ENST00000507623;ENST00000380638	.	.	.	2.48	-4.95	0.03048	.	0.000000	0.47852	U	0.000201	T	0.65739	0.2720	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.65578	-0.6134	8	0.87932	D	0	-21.3676	5.0292	0.14400	0.2462:0.0:0.5797:0.1741	.	18	A8MW06	TMSL3_HUMAN	V	18;43;18	.	ENSP00000370012:L18V	L	-	1	2	TMSL3	91979160	1.000000	0.71417	0.967000	0.41034	0.411000	0.31082	1.495000	0.35627	-1.175000	0.02751	0.281000	0.19383	CTG		0.522	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		C	91760137	G	C	91760137	1	2	121	0	1	0	0	0	0	0	0	0	16256	1020	36	5		5	TMSL3	4	91760137	Intron	SNP	G	TCGA-12-3652-01A-01D-1495-08	18747165	91760137	99394139	21	8311											
CFI	3426	broad.mit.edu	37	chr4	110663746	110663746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaagtgaaaagactctttCgttatctaaacaaagtgaga	16	11	8	6	1	2	4	0	3	2	2	3	5	2	4	0	0	1	1	0	0	7	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:110663746C>T	ENST00000394634.2	-	12	1642	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	CFI_ENST00000512148.1_Missense_Mutation_p.E472K|CFI_ENST00000394635.3_Missense_Mutation_p.E487K	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	479	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338																																						uc011cft.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1459-1461)Gaa>Aaa		Homo sapiens complement factor I (CFI), mRNA.							77	75	76					4																	110663746		2203	4299	6502	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110663746C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1435G>A	4.37:g.110663746C>T	ENSP00000378130:p.Glu479Lys					CFI_uc003hzq.3_Missense_Mutation_p.E276K|CFI_uc003hzr.4_Missense_Mutation_p.E479K	p.E487K	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	12	1667	-		Hepatocellular(203;0.217)	479			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1459G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.948179	0.00475	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88124	-2.34;-2.34;-2.34	4.82	-2.0	0.07433	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.902490	0.09548	N	0.787235	T	0.67373	0.2886	N	0.16037	0.36	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.09377	0.004;0.003;0.003	T	0.54899	-0.8224	10	0.06757	T	0.87	-6.0137	2.4666	0.04554	0.094:0.2635:0.2165:0.426	.	487;472;479	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	K	487;479;472	ENSP00000378131:E487K;ENSP00000378130:E479K;ENSP00000427438:E472K	ENSP00000378130:E479K	E	-	1	0	CFI	110883195	0.000000	0.05858	0.169000	0.22859	0.006000	0.05464	-0.736000	0.04882	-0.113000	0.11958	-0.858000	0.03015	GAA		0.338	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		T	110663746	C	T	110663746	3	4	121	1	0	0	0	0	1	0	0	0	3289	893	31	2	324	2	CFI	4	110663746	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	18903609	110663746	80490530	22	8312											
FAT1	2195	broad.mit.edu	37	chr4	187541102	187541102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgatgctgtagaacactTtcaggccttccgggctgtta	7	13	11	10	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:187541102T>A	ENST00000441802.2	-	10	6847	c.6638A>T	c.(6637-6639)aAa>aTa	p.K2213I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2213	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTAGAACACTTTCAGGCCTTC	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6637-6639)aAa>aTa		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.							160	160	160					4																	187541102		2003	4168	6171	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541102T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6638A>T	4.37:g.187541102T>A	ENSP00000406229:p.Lys2213Ile	HNSCC(5;0.00058)					p.K2213I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			9	6826	-			2213			Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6638A>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435879	0.25813	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01548	4.78	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.053575	0.64402	D	0.000002	T	0.03608	0.0103	N	0.25992	0.78	0.19775	N	0.999959	D	0.61697	0.99	D	0.63192	0.912	T	0.47699	-0.9097	10	0.39692	T	0.17	.	7.6196	0.28177	0.0:0.1577:0.0:0.8423	.	2213	Q14517	FAT1_HUMAN	I	2213;2215	ENSP00000406229:K2213I	ENSP00000260147:K2215I	K	-	2	0	FAT1	187778096	1.000000	0.71417	0.899000	0.35326	0.622000	0.37654	3.751000	0.55165	2.116000	0.64780	0.533000	0.62120	AAA		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187541102	T	A	187541102	3	1	121	1	0	0	0	0	1	0	0	0	5689	1841	64	5	7200	5	FAT1	4	187541102	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	76877356	187541102	3613174	23	8313											
CDH9	1007	broad.mit.edu	37	chr5	26902769	26902769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccaggtgtaagaatcGtggatcagggtgagtgttac	10	10	15	6	1	1	2	1	1	0	1	3	3	2	3	1	4	1	2	1	4	3	2	rs376720983		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:26902769G>A	ENST00000231021.4	-	7	1241	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTAAGAATCGTGGATCAGGG	0.358																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1069-1071)Cga>Tga		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							101	100	100					5																	26902769		2203	4300	6503	SO:0001587	stop_gained	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902769G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1069C>T	5.37:g.26902769G>A	ENSP00000231021:p.Arg357*						p.R357*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1238	-			357			Cadherin 3.		Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	37	c.1069C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	37	6.093357	0.97276	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.62	3.78	0.43462	.	0.122061	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5114	0.61515	0.0:0.0:0.715:0.285	.	.	.	.	X	357	.	.	R	-	1	2	CDH9	26938526	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.348000	0.52209	0.674000	0.31244	0.650000	0.86243	CGA		0.358	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26902769	G	A	26902769	4	1	121	1	0	0	0	0	0	1	0	0	3117	1153	40	1	1324	1	CDH9	5	26902769	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		26902769	154012491	24	8314											
MTX3	345778	broad.mit.edu	37	chr5	79284387	79284387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccaggcaggatcaaactCaaaggaaaaggaatttgtga	16	8	10	7	0	2	1	2	1	0	0	3	4	3	4	1	4	1	1	1	4	5	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:79284387C>G	ENST00000512528.1	-	5	422	c.402G>C	c.(400-402)ttG>ttC	p.L134F	MTX3_ENST00000509852.1_Missense_Mutation_p.L134F|MTX3_ENST00000512560.1_Missense_Mutation_p.L73F			Q5HYI7	MTX3_HUMAN	metaxin 3	134					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGATCAAACTCAAAGGAAAAG	0.453																																						uc010jag.3																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7						c.(400-402)ttG>ttC		Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.							52	48	49					5																	79284387		1888	4109	5997	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79284387C>G	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.402G>C	5.37:g.79284387C>G	ENSP00000424798:p.Leu134Phe					MTX3_uc010jah.3_Missense_Mutation_p.L134F|MTX3_uc003kge.4_Missense_Mutation_p.L73F|MTX3_uc003kgf.1_5'Flank	p.L134F	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	4	429	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	134					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.402G>C		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888418	0.52014	.	.	ENSG00000177034	ENST00000512560;ENST00000328496;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.57273	0.41;0.56;0.5	5.58	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.72353	2.195	0.54753	D	0.999986	D;P	0.89917	1.0;0.565	D;B	0.91635	0.999;0.401	T	0.70238	-0.4927	10	0.37606	T	0.19	-2.7671	14.4867	0.67622	0.0:0.9293:0.0:0.0707	.	134;134	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	F	73;134;134;134;134	ENSP00000423600:L73F;ENSP00000423302:L134F;ENSP00000424798:L134F	ENSP00000331672:L134F	L	-	3	2	MTX3	79320143	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.696000	0.25541	1.363000	0.46019	-0.140000	0.14226	TTG		0.453	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		G	79284387	C	G	79284387	3	3	121	1	0	0	0	0	1	0	0	0	9969	825	29	5	556	5	MTX3	5	79284387	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	52381618	79284387	101630873	25	8315											
GPR98	84059	broad.mit.edu	37	chr5	89943466	89943466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcctgttgaaaaaggAgaaacgctcatttttgaggt	12	14	9	6	1	2	3	2	2	0	1	3	4	3	3	1	2	1	2	1	2	3	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:89943466A>G	ENST00000405460.2	+	17	3270	c.3174A>G	c.(3172-3174)ggA>ggG	p.G1058G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1058	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAAAAGGAGAAACGCTCA	0.413																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3172-3174)ggA>ggG		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							171	161	164					5																	89943466		1894	4111	6005	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943466A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3174A>G	5.37:g.89943466A>G						GPR98_uc003kjt.3_5'UTR	p.G1058G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	16	3270	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1058			Calx-beta 8.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.3174A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.365	-0.937292	0.02340	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.49	-1.78	0.07957	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.39600	D	0.969712	.	.	.	.	.	.	T	0.30736	-0.9968	4	.	.	.	.	2.2234	0.03978	0.3867:0.1009:0.3392:0.1732	.	.	.	.	G	647	.	.	R	+	1	2	GPR98	89979222	0.105000	0.21958	0.304000	0.25085	0.060000	0.15804	-0.396000	0.07278	-0.193000	0.10415	0.528000	0.53228	AGA		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89943466	A	G	89943466	2	3	121	1	0	0	0	0	0	0	0	1	6721	291	11	4		4	GPR98	5	89943466	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	10659079	89943466	90971794	26	8316											
PCDHA12	56137	broad.mit.edu	37	chr5	140256668	140256668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgccggcgtgccgcc	4	5	16	16	8	0	1	0	1	0	0	1	2	1	1	4	2	3	2	4	2	0	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1609-1611)gcG>gcA		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.							75	84	81					5																	140256668		2203	4298	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140256668G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1611G>A	5.37:g.140256668G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A537A	p.A537A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1738	+			551			Cadherin 5.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1611G>A	CCDS47285.1																																																																																				0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140256668	G	A	140256668	2	1	121	1	0	0	0	0	0	0	0	1	11522	1074	38	1		1	PCDHA12	5	140256668	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	50313202	140256668	40658592	27	8317											
SIM1	6492	broad.mit.edu	37	chr6	100838896	100838896	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgctcagtacgatatcGgtcacctgattcactggccg	9	11	9	12	3	3	1	3	1	0	0	4	2	3	1	2	2	3	2	2	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:100838896G>A	ENST00000369208.3	-	12	2424	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.R548*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	548	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTACGATATCGGTCACCTGAT	0.428																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1642-1644)Cga>Tga		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							81	85	83					6																	100838896		2203	4300	6503	SO:0001587	stop_gained	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838896G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1642C>T	6.37:g.100838896G>A	ENSP00000358210:p.Arg548*					SIM1_uc021zdg.1_Nonsense_Mutation_p.R548*|SIM1_uc010kcu.3_Nonsense_Mutation_p.R548*	p.R548*	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	2109	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	548			Single-minded C-terminal.		Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	c.1642C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	45	11.391913	0.99555	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.9	5.01	0.66863	.	0.052206	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2981	0.82786	0.0:0.0:0.8666:0.1334	.	.	.	.	X	548	.	ENSP00000262901:R548X	R	-	1	2	SIM1	100945617	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	6.318000	0.72866	1.453000	0.47775	0.650000	0.86243	CGA		0.428	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		A	100838896	G	A	100838896	4	1	121	1	0	0	0	0	0	1	0	0	14323	1124	39	2	662	2	SIM1	6	100838896	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		100838896	70276171	28	8318											
RFX6	222546	broad.mit.edu	37	chr6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaactctttccagatgCgagtaaagctgctttcactg	12	13	7	9	1	2	1	1	0	1	1	3	2	3	1	1	0	4	3	1	0	5	4	rs201446493		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													C|||	1	0.000199681	0	0	5008	,	,		21160	0		0.001	False		,,,				2504	0					uc003pxm.3																			3	Substitution - Missense(3)	p.A561V(6)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1681-1683)gCg>gTg		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							109	114	112					6																	117246619		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246619C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1682C>T	6.37:g.117246619C>T	ENSP00000332208:p.Ala561Val						p.A561V	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			15	1745	+			561					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1682C>T	CCDS5113.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.3	4.907150	0.92107	.	.	ENSG00000185002	ENST00000332958	T	0.58940	0.3	5.85	5.85	0.93711	.	0.101828	0.64402	D	0.000002	T	0.65729	0.2719	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.56396	-0.7986	10	0.23891	T	0.37	-18.1239	20.1775	0.98187	0.0:1.0:0.0:0.0	.	561	Q8HWS3	RFX6_HUMAN	V	561	ENSP00000332208:A561V	ENSP00000332208:A561V	A	+	2	0	RFX6	117353312	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.595000	0.61048	2.771000	0.95319	0.561000	0.74099	GCG		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117246619	C	T	117246619	3	4	121	1	0	0	0	0	1	0	0	0	13267	768	27	1	1744	1	RFX6	6	117246619	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	16407723	117246619	53868448	29	8319											
SHPRH	257218	broad.mit.edu	37	chr6	146215353	146215353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaagagcttttgaaataAtatctaatacatcttgccac	15	13	5	8	0	2	2	0	1	2	1	2	2	2	2	1	0	3	2	1	0	6	8			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:146215353A>G	ENST00000367505.2	-	27	4892	c.4628T>C	c.(4627-4629)aTt>aCt	p.I1543T	SHPRH_ENST00000438092.2_Missense_Mutation_p.I1547T|SHPRH_ENST00000367503.3_Missense_Mutation_p.I1547T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1543T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1543	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTGAAATAATATCTAATAC	0.313																																						uc003qlf.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(4627-4629)aTt>aCt		Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.							91	87	88					6																	146215353		1817	4087	5904	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146215353A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4628T>C	6.37:g.146215353A>G	ENSP00000356475:p.Ile1543Thr					SHPRH_uc003qle.3_Missense_Mutation_p.I1547T	p.I1543T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	26	5027	-		Ovarian(120;0.0365)	1543			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4628T>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174439	0.78452	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.46	5.46	0.80206	Helicase, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.82793	0.5114	L	0.57130	1.785	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.85377	0.1117	10	0.87932	D	0	-21.9176	14.3855	0.66942	1.0:0.0:0.0:0.0	.	1543;1547	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	1543;1547;1547;1543	ENSP00000356475:I1543T;ENSP00000356473:I1547T;ENSP00000412797:I1547T;ENSP00000275233:I1543T	ENSP00000275233:I1543T	I	-	2	0	SHPRH	146257046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.890000	0.92477	2.187000	0.69744	0.477000	0.44152	ATT		0.313	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		G	146215353	A	G	146215353	3	3	121	1	0	0	0	0	1	0	0	0	14291	101	4	4	456	4	SHPRH	6	146215353	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	28968734	146215353	24899714	30	8320											
SMOC2	64094	broad.mit.edu	37	chr6	169064764	169064764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgctagcccccagaggTcatgctgaaagtacgtctaa	10	10	9	12	1	2	2	1	1	1	1	3	2	3	2	3	1	4	3	3	1	4	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:169064764T>C	ENST00000356284.2	+	12	1516	c.1296T>C	c.(1294-1296)ggT>ggC	p.G432G	SMOC2_ENST00000477998.1_3'UTR|SMOC2_ENST00000354536.5_Silent_p.G443G	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	432					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCCCAGAGGTCATGCTGAAA	0.299																																						uc003qwr.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1327-1329)ggT>ggC		Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.							48	50	49					6																	169064764		2203	4300	6503	SO:0001819	synonymous_variant	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169064764T>C	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1296T>C	6.37:g.169064764T>C						SMOC2_uc003qws.2_Silent_p.G432G|SMOC2_uc011egu.2_Silent_p.G109G	p.G443G	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	11	1549	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	432					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	c.1329T>C	CCDS55076.1																																																																																				0.299	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			C	169064764	T	C	169064764	2	2	121	1	0	0	0	0	0	0	0	1	14802	1654	58	4		4	SMOC2	6	169064764	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08	22849411	169064764	2050303	31	8321											
NOD1	10392	broad.mit.edu	37	chr7	30492365	30492365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgacccctgcgtctagcCggcccgtggcccagaggctc	5	8	12	16	3	1	2	0	1	1	1	2	2	1	2	5	3	2	1	5	3	1	2	rs139576372		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:30492365C>T	ENST00000222823.4	-	6	1193	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	223	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCGTCTAGCCGGCCCGTGGC	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		19573	0		0	False		,,,				2504	0					uc003tav.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(667-669)cGg>cAg		Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	67	71	69		668	-1.9	0	7	dbSNP_134	69	0,8600		0,0,4300	no	missense	NOD1	NM_006092.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	223/954	30492365	1,13005	2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492365C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.668G>A	7.37:g.30492365C>T	ENSP00000222823:p.Arg223Gln					NOD1_uc010kvs.2_Intron	p.R223Q	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			5	1191	-			223			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.668G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755796	0.03019	2.27E-4	0.0	ENSG00000106100	ENST00000222823	T	0.21543	2.0	5.49	-1.86	0.07760	NACHT nucleoside triphosphatase (1);	0.516121	0.21867	N	0.067959	T	0.06234	0.0161	N	0.03967	-0.31	0.49687	D	0.99981	B	0.11235	0.004	B	0.06405	0.002	T	0.39603	-0.9606	10	0.11485	T	0.65	.	6.1879	0.20508	0.129:0.1539:0.0:0.7171	.	223	Q9Y239	NOD1_HUMAN	Q	223	ENSP00000222823:R223Q	ENSP00000222823:R223Q	R	-	2	0	NOD1	30458890	0.980000	0.34600	0.049000	0.19019	0.015000	0.08874	1.025000	0.30090	-0.610000	0.05716	-0.150000	0.13652	CGG		0.577	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			T	30492365	C	T	30492365	3	4	121	1	0	0	0	0	1	0	0	0	10516	652	23	2	2229	2	NOD1	7	30492365	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		30492365	128646298	32	8322											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	10	8	8	15	3	2	1	0	0	2	1	5	3	4	1	5	1	2	1	5	1	3	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000344576.2_Missense_Mutation_p.R252P|EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)cGc>cCc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						185	147	160					7																	55221711		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221711G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.755G>C	7.37:g.55221711G>C	ENSP00000275493:p.Arg252Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.R252P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1001	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.755G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352009	0.41700	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.81	3.64	0.41730	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.92714	0.7684	M	0.92649	3.33	0.53688	D	0.99997	D;D;D;D;D	0.76494	0.972;0.983;0.999;0.99;0.988	P;P;D;D;D	0.70716	0.88;0.895;0.97;0.913;0.938	D	0.91576	0.5275	10	0.51188	T	0.08	.	9.6723	0.40019	0.2017:0.0:0.7983:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207P;ENSP00000342376:R252P;ENSP00000345973:R252P;ENSP00000413843:R252P;ENSP00000275493:R252P;ENSP00000410031:R252P;ENSP00000395243:R199P	ENSP00000275493:R252P	R	+	2	0	EGFR	55189205	1.000000	0.71417	0.608000	0.28969	0.150000	0.21749	2.318000	0.43779	0.551000	0.29008	0.467000	0.42956	CGC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55221711	G	C	55221711	3	2	121	1	0	0	0	0	1	0	0	0	4967	1087	38	5	781	5	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	24729346	55221711	103916952	33	8323											
WNT2	7472	broad.mit.edu	37	chr7	116960680	116960680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgttgcaattccagCggtgctggcggaactggtgc	6	9	16	10	2	0	0	0	0	0	0	1	1	1	1	2	5	5	3	2	5	2	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:116960680C>T	ENST00000265441.3	-	2	550	c.251G>A	c.(250-252)cGc>cAc	p.R84H	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	84					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCAATTCCAGCGGTGCTGGCG	0.597																																						uc003viz.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(250-252)cGc>cAc		Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.							79	61	67					7																	116960680		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960680C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.251G>A	7.37:g.116960680C>T	ENSP00000265441:p.Arg84His					WNT2_uc003vja.3_Silent_p.P9P	p.R84H	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	551	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		84					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.251G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393826	0.96009	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.80909	-1.43;-1.43	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94516	0.7723	10	0.87932	D	0	.	18.2752	0.90080	0.0:1.0:0.0:0.0	.	84	P09544	WNT2_HUMAN	H	84	ENSP00000265441:R84H;ENSP00000419466:R84H	ENSP00000265441:R84H	R	-	2	0	WNT2	116747916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.419000	0.80179	2.604000	0.88044	0.655000	0.94253	CGC		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116960680	C	T	116960680	3	4	121	1	0	0	0	0	1	0	0	0	17383	768	27	1	847	1	WNT2	7	116960680	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	61738969	116960680	42177983	34	8324											
MGAM	8972	broad.mit.edu	37	chr7	141734061	141734061	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctgcttttgtttcaGgaatcctggatgggtacctg	6	16	11	8	0	1	1	1	1	0	0	3	3	3	3	3	3	2	3	3	3	2	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:141734061G>T	ENST00000549489.2	+	15	1764		c.e15-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTGTTTCAGGAATCCTGGA	0.478																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e15-1		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						59	58	58					7																	141734061		2002	4187	6189	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141734061G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1670-1G>T	7.37:g.141734061G>T							p.R557_splice	NM_004668	NP_004659	O43451	MGA_HUMAN			15	1724	+	Melanoma(164;0.0272)		557			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.1670_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401676	0.62288	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6886	0.88263	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141380530	1.000000	0.71417	0.498000	0.27564	0.127000	0.20565	9.595000	0.98260	2.706000	0.92434	0.650000	0.86243	.		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	T	141734061	G	T	141734061	5	4	121	1	0	0	0	0	0	0	1	0	9541	1014	35	5	1723	5	MGAM	7	141734061	Splice_Site	SNP	G	TCGA-12-3652-01A-01D-1495-08	24773381	141734061	17404602	35	8325											
FAM135B	51059	broad.mit.edu	37	chr8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtggagggcatgtcttcGaacaaacgggtgcaagactt	10	8	14	9	3	1	1	0	0	1	1	2	3	1	2	1	4	3	2	1	4	3	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr8:139164563G>A	ENST00000395297.1	-	13	2325	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)																												uc003yuy.3																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2155-2157)Cga>Tga		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							44	45	45					8																	139164563		1971	4147	6118	SO:0001587	stop_gained	51059							g.chr8:139164563G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2155C>T	8.37:g.139164563G>A	ENSP00000378710:p.Arg719*	HNSCC(54;0.14)				FAM135B_uc003yux.3_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.R281*	p.R719*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	2326	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		719					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.2155C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	39	7.446108	0.98289	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.65	3.65	0.41850	.	0.337294	0.28983	N	0.013506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0874	14.3674	0.66815	0.0:0.0:0.6697:0.3303	.	.	.	.	X	719	.	ENSP00000276737:R719X	R	-	1	2	FAM135B	139233745	0.034000	0.19679	0.031000	0.17742	0.317000	0.28152	1.080000	0.30779	1.376000	0.46267	0.655000	0.94253	CGA		0.567	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139164563	G	A	139164563	4	1	121	1	0	0	0	0	0	1	0	0	5449	1066	37	2	2097	2	FAM135B	8	139164563	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		139164563	7199459	36	8326											
BNC2	54796	broad.mit.edu	37	chr9	16419622	16419622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttggtcaacagtttacGatgtaggtttatgttggcac	8	17	10	6	1	2	0	1	0	1	0	2	1	2	0	0	3	2	5	0	3	4	8			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:16419622G>A	ENST00000380672.4	-	7	2722	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	BNC2_ENST00000545497.1_Missense_Mutation_p.R794C|BNC2_ENST00000380667.2_Missense_Mutation_p.R822C	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AACAGTTTACGATGTAGGTTT	0.488																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2665-2667)Cgt>Tgt		Homo sapiens basonuclin 2 (BNC2), mRNA.							55	61	59					9																	16419622		2162	4245	6407	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419622G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2665C>T	9.37:g.16419622G>A	ENSP00000370047:p.Arg889Cys					BNC2_uc011lmw.2_Missense_Mutation_p.R794C|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R676C	p.R889C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2805	-			889						Missense_Mutation	SNP	ENST00000380672.4	37	c.2665C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980316	0.74474	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.38077	1.16;1.17;1.16	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;P;P	0.80764	0.994;0.719;0.765	T	0.61287	-0.7093	10	0.72032	D	0.01	-10.1781	19.6005	0.95560	0.0:0.0:1.0:0.0	.	794;889;654	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	C	889;822;794	ENSP00000370047:R889C;ENSP00000370042:R822C;ENSP00000444640:R794C	ENSP00000370042:R822C	R	-	1	0	BNC2	16409622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.634000	0.89283	0.655000	0.94253	CGT		0.488	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		A	16419622	G	A	16419622	3	1	121	1	0	0	0	0	1	0	0	0	1475	1058	37	2	638	2	BNC2	9	16419622	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		16419622	124793809	37	8327											
LINGO2	158038	broad.mit.edu	37	chr9	27950347	27950347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccttttaggcggagggaaCgcaggttaaagagattgttg	10	11	15	5	2	0	1	0	0	0	1	0	4	0	3	1	4	2	3	1	4	4	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:27950347C>T	ENST00000379992.2	-	6	772	c.323G>A	c.(322-324)cGt>cAt	p.R108H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R108H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108						integral component of membrane (GO:0016021)		p.R108H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGGAGGGAACGCAGGTTAAA	0.438																																						uc003zqv.1																			1	Substitution - Missense(1)	p.R108H(2)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(322-324)cGt>cAt		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.							167	166	166					9																	27950347		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950347C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.323G>A	9.37:g.27950347C>T	ENSP00000369328:p.Arg108His					LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqu.1_Missense_Mutation_p.R108H|LINGO2_uc022bfc.1_Missense_Mutation_p.R108H	p.R108H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	973	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	108					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.323G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239637	0.58995	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	.	0.051038	0.85682	D	0.000000	T	0.50684	0.1630	L	0.57536	1.79	0.58432	D	0.999998	P	0.35793	0.521	B	0.28916	0.096	T	0.48658	-0.9016	9	.	.	.	.	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	108	Q7L985	LIGO2_HUMAN	H	108	ENSP00000369328:R108H;ENSP00000310126:R108H	.	R	-	2	0	LINGO2	27940347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.769000	0.62300	2.941000	0.99782	0.655000	0.94253	CGT		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		T	27950347	C	T	27950347	3	4	121	1	0	0	0	0	1	0	0	0	8815	536	19	1	1501	1	LINGO2	9	27950347	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	11530725	27950347	113263084	38	8328											
WNK2	65268	broad.mit.edu	37	chr9	96051416	96051416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgcactccagctccAgaggctgcctcaaccaggga	9	6	10	16	0	1	1	1	0	0	1	3	2	3	2	5	2	4	4	5	2	1	1	rs556009011		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:96051416A>G	ENST00000297954.4	+	20	4491	c.4491A>G	c.(4489-4491)ccA>ccG	p.P1497P	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.P1109P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.P1072P|WNK2_ENST00000395477.2_Silent_p.P1460P	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1497					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCAGCTCCAGAGGCTGCCT	0.692													A|||	1	0.000199681	0	0	5008	,	,		13594	0		0	False		,,,				2504	0.001					uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4489-4491)ccA>ccG		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							17	18	18					9																	96051416		2203	4297	6500	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051416A>G	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4491A>G	9.37:g.96051416A>G						WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.3_Silent_p.P1460P|WNK2_uc004atk.3_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	p.P1497P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			19	4491	+			1497					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4491A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.686|6.686	0.495155|0.495155	0.12762|0.12762	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251|ENST00000411624	.|.	.|.	.|.	5.46|5.46	-8.55|-8.55	0.00908|0.00908	.|.	.|.	.|.	.|.	.|.	T|T	0.17365|0.17365	0.0417|0.0417	.|.	.|.	.|.	0.21416|0.21416	N|N	0.999697|0.999697	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20940|0.20940	-1.0260|-1.0260	4|4	.|.	.|.	.|.	.|.	4.0226|4.0226	0.09672|0.09672	0.5271:0.1039:0.2635:0.1055|0.5271:0.1039:0.2635:0.1055	.|.	.|.	.|.	.|.	R|G	1456;257|1064	.|.	.|.	Q|R	+|+	2|1	0|2	WNK2|WNK2	95091237|95091237	0.104000|0.104000	0.21937|0.21937	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.280000|0.280000	0.18790|0.18790	-1.600000|-1.600000	0.01603|0.01603	-0.379000|-0.379000	0.06801|0.06801	CAG|AGA		0.692	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		G	96051416	A	G	96051416	2	3	121	1	0	0	0	0	0	0	0	1	17375	175	7	4		4	WNK2	9	96051416	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	68101069	96051416	45162015	39	8329											
OR9G1	390174	broad.mit.edu	37	chr11	56467944	56467944	+	Frame_Shift_Del	DEL	C	C	-																															ggaatgcagctgggcctcttCgtggtgttcctgggcgtgta																								rs556450024		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56467944delC	ENST00000312153.1	+	1	81	c.81delC	c.(79-81)ttcfs	p.F27fs		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGGCCTCTTCGTGGTGTTCC	0.502																																						uc010rjn.2																			0											c.(79-81)ttcfs		Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.							157	136	143					11																	56467944		2201	4296	6497	SO:0001589	frameshift_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56467944delC	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.81delC	11.37:g.56467944delC	ENSP00000309012:p.Phe27fs					OR8U8_uc001nit.2_Intron	p.F27fs	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN			0	81	+			27					Q6IEU9|Q8NGQ0	Frame_Shift_Del	DEL	ENST00000312153.1	37	c.81delC	CCDS31536.1																																																																																				0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		-	56467944	C	-	56467944	7	5	121	1	0	1	0	1	0	0	0	0	11250	883	31	0	83	0	OR9G1	11	56467944	Frame_Shift_Del	DEL	C	TCGA-12-3652-01A-01D-1495-08		56467944	78538572	40	8330											
LRRC55	219527	broad.mit.edu	37	chr11	56949854	56949854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcttggcacacttggacCtgagctacaacaatttcagc	11	9	9	12	1	1	1	1	1	0	0	1	2	1	2	1	2	5	3	1	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56949854C>T	ENST00000497933.1	+	1	634	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	133					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACACTTGGACCTGAGCTACAA	0.582																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(487-489)Ctg>Ttg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							38	36	37					11																	56949854		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949854C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.487C>T	11.37:g.56949854C>T							p.L163L	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	634	+			133					A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.487C>T	CCDS31539.1																																																																																				0.582	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		T	56949854	C	T	56949854	2	4	121	1	0	0	0	0	0	0	0	1	9011	680	24	3		3	LRRC55	11	56949854	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	481910	56949854	78056662	41	8331											
OR5AN1	390195	broad.mit.edu	37	chr11	59132440	59132440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttcaactccacttctGtgggtctaatgtcatcagac	8	15	7	11	0	5	1	3	0	2	1	6	1	6	1	1	1	2	1	1	1	2	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:59132440G>T	ENST00000313940.2	+	1	556	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACTTCTGTGGGTCTAAT	0.443																																						uc010rks.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(508-510)tGt>tTt		Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.							147	134	139					11																	59132440		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132440G>T	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.509G>T	11.37:g.59132440G>T	ENSP00000320302:p.Cys170Phe						p.C170F	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			0	509	+			170					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.509G>T	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511825	0.64522	.	.	ENSG00000176495	ENST00000313940	T	0.00211	8.54	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.00724	0.0024	M	0.89840	3.065	0.40773	D	0.983107	D	0.89917	1.0	D	0.91635	0.999	T	0.67352	-0.5692	10	0.87932	D	0	-31.1953	15.4421	0.75190	0.0:0.0:1.0:0.0	.	170	Q8NGI8	O5AN1_HUMAN	F	170	ENSP00000320302:C170F	ENSP00000320302:C170F	C	+	2	0	OR5AN1	58889016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.999000	0.63934	2.263000	0.75096	0.655000	0.94253	TGT		0.443	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		T	59132440	G	T	59132440	3	4	121	1	0	0	0	0	1	0	0	0	11143	1377	48	5	511	5	OR5AN1	11	59132440	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	2182586	59132440	75874076	42	8332											
MMP13	4322	broad.mit.edu	37	chr11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagtggccgaactcatgcGcagcaacaagaaacaagttg	15	5	12	9	2	1	1	1	0	0	1	1	3	1	2	1	2	5	3	1	2	5	1	rs147544761	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAACTCATGCGCAGCAACAAG	0.423													G|||	6	0.00119808	0.0045	0	5008	,	,		17489	0		0	False		,,,				2504	0					uc001phl.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(661-663)gCg>gTg		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.		G	VAL/ALA	3,4401	8.1+/-20.4	0,3,2199	140	135	137		662	5.8	1	11	dbSNP_134	137	0,8598		0,0,4299	yes	missense	MMP13	NM_002427.3	64	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	221/472	102822878	3,12999	2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822878G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.662C>T	11.37:g.102822878G>A	ENSP00000260302:p.Ala221Val						p.A221V	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	4	691	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	221					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.662C>T	CCDS8324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.655859	0.96724	6.81E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.093477	0.64402	D	0.000001	T	0.48277	0.1491	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32955	-0.9887	10	0.59425	D	0.04	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	221	P45452	MMP13_HUMAN	V	221	ENSP00000260302:A221V;ENSP00000339672:A221V	ENSP00000260302:A221V	A	-	2	0	MMP13	102328088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.866000	0.98385	0.650000	0.86243	GCG		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		A	102822878	G	A	102822878	3	1	121	1	0	0	0	0	1	0	0	0	9652	1087	38	1	777	1	MMP13	11	102822878	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	43690438	102822878	32183638	43	8333											
GRIN2B	2904	broad.mit.edu	37	chr12	13724856	13724856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgccgttgggcacggTcccaaagcggaaagggggtg	7	7	18	9	3	0	0	0	0	0	0	1	1	1	1	2	5	3	3	2	5	2	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:13724856T>C	ENST00000609686.1	-	10	2262	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	685					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGGGCACGGTCCCAAAGCGG	0.493																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2053-2055)Acc>Gcc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127	103	111					12																	13724856		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724856T>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2053A>G	12.37:g.13724856T>C	ENSP00000477455:p.Thr685Ala						p.T685A	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			9	2232	-			685					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2053A>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061494	0.93846	.	.	ENSG00000150086	ENST00000279593	T	0.28255	1.62	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.55016	-0.8206	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	685	Q13224	NMDE2_HUMAN	A	685	ENSP00000279593:T685A	ENSP00000279593:T685A	T	-	1	0	GRIN2B	13616123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.992000	0.88273	2.308000	0.77769	0.533000	0.62120	ACC		0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			C	13724856	T	C	13724856	3	2	121	1	0	0	0	0	1	0	0	0	6780	1667	58	4	2417	4	GRIN2B	12	13724856	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08		13724856	120127039	44	8334											
NR4A1	3164	broad.mit.edu	37	chr12	52448556	52448556	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgcccagcttccagccGccccagctctctccctggga	5	7	8	21	2	1	0	0	0	1	0	5	1	4	1	7	1	3	2	7	1	0	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:52448556G>T	ENST00000243050.1	+	3	758	c.444G>T	c.(442-444)ccG>ccT	p.P148P	NR4A1_ENST00000548232.1_Silent_p.P148P|NR4A1_ENST00000394825.1_Silent_p.P148P|NR4A1_ENST00000545748.1_Silent_p.P202P|NR4A1_ENST00000550082.1_Silent_p.P161P|NR4A1_ENST00000394824.2_Silent_p.P148P|NR4A1_ENST00000360284.3_Silent_p.P161P	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	148					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCTTCCAGCCGCCCCAGCTCT	0.677																																						uc001rzs.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(442-444)ccG>ccT		Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.							26	31	29					12																	52448556		2203	4300	6503	SO:0001819	synonymous_variant	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448556G>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.444G>T	12.37:g.52448556G>T						NR4A1_uc010sno.2_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.2_Silent_p.P148P|NR4A1_uc001rzt.3_Silent_p.P148P|NR4A1_uc009zmc.3_5'Flank	p.P148P	NM_002135	NP_775180	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	2	763	+			148					B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	c.444G>T	CCDS8818.1																																																																																				0.677	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			T	52448556	G	T	52448556	2	4	121	1	0	0	0	0	0	0	0	1	10632	1074	38	5		5	NR4A1	12	52448556	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	38723700	52448556	81403339	45	8335											
ESYT1	23344	broad.mit.edu	37	chr12	56536179	56536179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacactcagcagtggtcaGgggcaggtgctactgagagc	9	9	14	9	0	2	1	2	1	0	1	2	2	2	1	0	4	5	3	0	4	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:56536179G>T	ENST00000394048.5	+	25	2967	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000267113.4_Missense_Mutation_p.Q911H|ESYT1_ENST00000541590.1_Missense_Mutation_p.Q911H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	901					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCAGTGGTCAGGGGCAGGTGC	0.622																																						uc001sjr.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2731-2733)caG>caT		Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.							49	44	46					12																	56536179		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536179G>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2703G>T	12.37:g.56536179G>T	ENSP00000377612:p.Gln901His					ESYT1_uc001sjq.3_Missense_Mutation_p.Q901H	p.Q911H	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN			24	2851	+			901					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2733G>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056639	0.55325	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.71461	-0.57;-0.57;-0.57	4.55	-1.05	0.10036	C2 calcium/lipid-binding domain, CaLB (1);	0.310806	0.27739	N	0.018042	T	0.69097	0.3073	L	0.46157	1.445	0.31324	N	0.685726	D;P	0.62365	0.991;0.937	P;B	0.54060	0.741;0.421	T	0.71533	-0.4564	10	0.44086	T	0.13	-9.4005	11.4591	0.50199	0.205:0.0:0.795:0.0	.	911;901	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	901;855;911;911	ENSP00000377612:Q901H;ENSP00000267113:Q911H;ENSP00000445952:Q911H	ENSP00000267113:Q911H	Q	+	3	2	ESYT1	54822446	1.000000	0.71417	0.929000	0.37066	0.924000	0.55760	0.385000	0.20685	-0.124000	0.11724	-0.367000	0.07326	CAG		0.622	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		T	56536179	G	T	56536179	3	4	121	1	0	0	0	0	1	0	0	0	5264	991	35	5	2831	5	ESYT1	12	56536179	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	4087623	56536179	77315716	46	8336											
RNFT2	84900	broad.mit.edu	37	chr12	117217036	117217036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacctggagatgctggaCttctttgacctgctatggat	8	12	10	11	0	1	2	0	1	1	1	1	5	1	4	3	3	3	2	3	3	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:117217036C>T	ENST00000257575.4	+	7	998	c.765C>T	c.(763-765)gaC>gaT	p.D255D	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.D255D|RNU6-558P_ENST00000364512.1_RNA|RNFT2_ENST00000392549.2_Silent_p.D255D			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	255						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGATGCTGGACTTCTTTGACC	0.547																																						uc009zwn.3																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(763-765)gaC>gaT		Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.							229	200	210					12																	117217036		2203	4300	6503	SO:0001819	synonymous_variant	84900					integral to membrane	zinc ion binding	g.chr12:117217036C>T	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.765C>T	12.37:g.117217036C>T						RNFT2_uc001twb.4_Silent_p.D255D|RNFT2_uc001twa.4_Silent_p.D165D|RNFT2_uc001twc.4_Silent_p.D3D	p.D255D	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	6	998	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		255					E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	c.765C>T	CCDS44987.1																																																																																				0.547	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		T	117217036	C	T	117217036	2	4	121	1	0	0	0	0	0	0	0	1	13502	564	20	3		3	RNFT2	12	117217036	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	60680857	117217036	16634859	47	8337											
VSIG10	54621	broad.mit.edu	37	chr12	118517207	118517207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactatgtggcttgtaacaCacttgaacttcttgccatcc	10	13	6	12	0	1	1	0	1	1	0	2	1	2	1	2	1	4	2	2	1	4	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:118517207C>A	ENST00000359236.5	-	4	1145	c.869G>T	c.(868-870)tGt>tTt	p.C290F	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	290	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAACACACTTGAACTT	0.542																																						uc001tws.3																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(868-870)tGt>tTt		Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.							82	90	88					12																	118517207		2112	4226	6338	SO:0001583	missense	54621					integral to membrane		g.chr12:118517207C>A		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.869G>T	12.37:g.118517207C>A	ENSP00000352172:p.Cys290Phe						p.C290F	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			3	1203	-			290			Ig-like C2-type 3.		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.869G>T	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378260	0.82682	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.60920	0.15;0.15	6.0	6.0	0.97389	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000182	T	0.80105	0.4562	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81191	-0.1045	10	0.87932	D	0	-22.5737	20.5469	0.99278	0.0:1.0:0.0:0.0	.	290	Q8N0Z9	VSI10_HUMAN	F	290;189	ENSP00000352172:C290F;ENSP00000442861:C189F	ENSP00000352172:C290F	C	-	2	0	VSIG10	117001590	0.999000	0.42202	0.970000	0.41538	0.793000	0.44817	5.275000	0.65575	2.850000	0.98022	0.650000	0.86243	TGT		0.542	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		A	118517207	C	A	118517207	3	1	121	1	0	0	0	0	1	0	0	0	17220	478	17	5	777	5	VSIG10	12	118517207	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	1300171	118517207	15334688	48	8338											
CCDC60	160777	broad.mit.edu	37	chr12	119942953	119942953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactcagtctgagtcGggccagtggggggtcctctc	5	9	13	14	1	3	1	1	1	2	0	7	1	5	1	3	4	0	0	3	4	0	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:119942953G>A	ENST00000327554.2	+	7	1193	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	243										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCTGAGTCGGGCCAGTGGG	0.557																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(727-729)cGg>cAg		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							91	99	97					12																	119942953		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119942953G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.728G>A	12.37:g.119942953G>A	ENSP00000333374:p.Arg243Gln					AF086288_uc001txf.3_Intron	p.R243Q	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	6	1193	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		243						Missense_Mutation	SNP	ENST00000327554.2	37	c.728G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411833	0.42817	.	.	ENSG00000183273	ENST00000327554	T	0.27890	1.64	5.07	5.07	0.68467	.	0.300925	0.23881	N	0.043657	T	0.49626	0.1568	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39781	-0.9597	9	.	.	.	-26.1102	13.9816	0.64308	0.0:0.0:1.0:0.0	.	243	Q8IWA6	CCD60_HUMAN	Q	243	ENSP00000333374:R243Q	.	R	+	2	0	CCDC60	118427336	0.984000	0.35163	0.972000	0.41901	0.040000	0.13550	4.489000	0.60309	2.340000	0.79590	0.650000	0.86243	CGG		0.557	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		A	119942953	G	A	119942953	3	1	121	1	0	0	0	0	1	0	0	0	2831	1116	39	2	754	2	CCDC60	12	119942953	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	1425746	119942953	13908942	49	8339											
RNF17	56163	broad.mit.edu	37	chr13	25425654	25425654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagatgaaaaaggagagCgtgttgatgtttctaaatat	15	11	12	3	1	1	4	0	2	1	2	1	6	1	4	0	1	1	3	0	1	5	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:25425654C>T	ENST00000255324.5	+	24	3317	c.3265C>T	c.(3265-3267)Cgt>Tgt	p.R1089C	RNF17_ENST00000381921.1_Missense_Mutation_p.R1089C|RNF17_ENST00000339524.3_Missense_Mutation_p.R141C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1089					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAAAGGAGAGCGTGTTGATGT	0.333																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3265-3267)Cgt>Tgt		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							108	108	108					13																	25425654		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25425654C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3265C>T	13.37:g.25425654C>T	ENSP00000255324:p.Arg1089Cys					RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010tde.2_Missense_Mutation_p.R1085C|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R1028C|RNF17_uc010aac.3_Missense_Mutation_p.R287C|RNF17_uc010aad.3_Missense_Mutation_p.R141C	p.R1089C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	23	3306	+		Lung SC(185;0.0225)|Breast(139;0.077)	1089					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3265C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351472	0.24512	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.56;3.57;2.79;1.97	4.51	0.839	0.18907	.	0.493083	0.20197	N	0.097166	T	0.12008	0.0292	L	0.31294	0.92	0.32360	N	0.557361	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.08806	-1.0704	10	0.37606	T	0.19	-0.7222	4.2917	0.10881	0.0:0.3874:0.169:0.4436	.	1085;141;1089;1089	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	C	1089;1089;948;413;141	ENSP00000255324:R1089C;ENSP00000371346:R1089C;ENSP00000388892:R413C;ENSP00000344776:R141C	ENSP00000255324:R1089C	R	+	1	0	RNF17	24323654	0.001000	0.12720	0.656000	0.29637	0.988000	0.76386	-0.421000	0.07053	0.246000	0.21394	0.591000	0.81541	CGT		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25425654	C	T	25425654	3	4	121	1	0	0	0	0	1	0	0	0	13461	768	27	1	3359	1	RNF17	13	25425654	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		25425654	89744224	50	8340											
PCDH9	5101	broad.mit.edu	37	chr13	67205380	67205380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccatctgcttcagtcctcTtgtccggagaggcctggtca	5	12	11	13	1	4	1	2	0	2	1	6	2	6	1	4	3	2	1	4	3	0	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:67205380T>C	ENST00000377865.2	-	3	3436	c.3302A>G	c.(3301-3303)aAg>aGg	p.K1101R	PCDH9_ENST00000456367.1_Missense_Mutation_p.K1067R|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.K1067R|PCDH9_ENST00000544246.1_Missense_Mutation_p.K1101R			Q9HC56	PCDH9_HUMAN	protocadherin 9	1101					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGTCCTCTTGTCCGGAGA	0.512																																						uc001vik.3																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3301-3303)aAg>aGg		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.							112	110	111					13																	67205380		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205380T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3302A>G	13.37:g.67205380T>C	ENSP00000367096:p.Lys1101Arg					PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.K1067R|PCDH9_uc010thl.2_Missense_Mutation_p.K1059R|U7_uc021rkh.1_5'Flank	p.K1101R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	3	3994	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1101					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3302A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692728	0.68271	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54279	0.64;0.64;0.58;0.58	5.49	4.29	0.51040	.	0.462315	0.22876	N	0.054572	T	0.43612	0.1255	L	0.29908	0.895	0.33662	D	0.609859	P;P;P	0.49961	0.86;0.914;0.93	B;B;B	0.43301	0.237;0.415;0.304	T	0.59836	-0.7379	10	0.87932	D	0	.	12.5874	0.56424	0.0:0.0:0.139:0.861	.	1059;1067;1101	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	R	1101;1101;1067;1067	ENSP00000442186:K1101R;ENSP00000367096:K1101R;ENSP00000401699:K1067R;ENSP00000332060:K1067R	ENSP00000332060:K1067R	K	-	2	0	PCDH9	66103381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.661000	0.83786	0.891000	0.36235	0.533000	0.62120	AAG		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		C	67205380	T	C	67205380	3	2	121	1	0	0	0	0	1	0	0	0	11518	1609	56	4	419	4	PCDH9	13	67205380	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	41779726	67205380	47964498	51	8341											
KLF12	11278	broad.mit.edu	37	chr13	74387376	74387376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggtcatcatcatcaCtgtcacttttactttgtctg	7	17	7	10	0	6	0	5	0	1	0	6	0	6	0	0	2	1	1	0	2	1	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:74387376C>T	ENST00000377669.2	-	4	745	c.719G>A	c.(718-720)aGt>aAt	p.S240N	KLF12_ENST00000377666.4_Missense_Mutation_p.S240N|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	240					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATCATCATCACTGTCACTTTT	0.423																																						uc001vjf.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(718-720)aGt>aAt		Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.							242	210	221					13																	74387376		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74387376C>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.719G>A	13.37:g.74387376C>T	ENSP00000366897:p.Ser240Asn					KLF12_uc010aeq.3_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	p.S240N	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	4	941	-		Prostate(6;0.00217)|Breast(118;0.0838)	240					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.719G>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198333	0.94997	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.06608	3.28;3.28	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	L	0.29908	0.895	0.80722	D	1	D	0.54601	0.967	P	0.57776	0.827	T	0.06285	-1.0835	10	0.32370	T	0.25	.	18.6836	0.91556	0.0:1.0:0.0:0.0	.	240	Q9Y4X4	KLF12_HUMAN	N	240	ENSP00000366897:S240N;ENSP00000366894:S240N	ENSP00000344057:S240N	S	-	2	0	KLF12	73285377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.721000	0.93114	0.655000	0.94253	AGT		0.423	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		T	74387376	C	T	74387376	3	4	121	1	0	0	0	0	1	0	0	0	8340	565	20	3	505	3	KLF12	13	74387376	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	7181996	74387376	40782502	52	8342											
HEATR5A	25938	broad.mit.edu	37	chr14	31852888	31852888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttaggtaggagggtaatgCcacggcaatgcagtgtaaac	12	9	14	6	1	0	0	0	0	0	0	0	1	0	1	1	4	3	6	1	4	6	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr14:31852888C>T	ENST00000389961.3	-	9	1416	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A473T|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A479T|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A186T|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A479T			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	473										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGGGTAATGCCACGGCAATG	0.468																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1435-1437)Gca>Aca		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							168	159	162					14																	31852888		2007	4179	6186	SO:0001583	missense	25938						binding	g.chr14:31852888C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1417G>A	14.37:g.31852888C>T	ENSP00000374611:p.Ala473Thr					HEATR5A_uc010ami.3_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	p.A479T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	9	1620	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		473					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1435G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.1|21.1|21.1	4.091198|4.091198|4.091198	0.76756|0.76756|0.76756	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366|ENST00000538864	T;T;T;T;T|.|.	0.08282|.|.	3.11;3.11;3.11;3.11;3.11|.|.	5.89|5.89|5.89	5.89|5.89|5.89	0.94794|0.94794|0.94794	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.179261|.|.	0.47852|.|.	D|.|.	0.000219|.|.	T|T|.	0.75903|0.75903|.	0.3913|0.3913|.	M|M|M	0.78285|0.78285|0.78285	2.405|2.405|2.405	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D;D|.|.	0.67145|.|.	0.957;0.996;0.97|.|.	P;D;P|.|.	0.65874|.|.	0.597;0.939;0.857|.|.	T|T|.	0.75816|0.75816|.	-0.3184|-0.3184|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.022|15.022|15.022	0.71637|0.71637|0.71637	0.1422:0.8578:0.0:0.0|0.1422:0.8578:0.0:0.0|0.1422:0.8578:0.0:0.0	.|.|.	479;473;473|.|.	B5MC49;Q86XA9-2;Q86XA9|.|.	.;.;HTR5A_HUMAN|.|.	T|D|X	473;473;186;479;479|121|106	ENSP00000374611:A473T;ENSP00000405407:A473T;ENSP00000408681:A186T;ENSP00000437968:A479T;ENSP00000384646:A479T|.|.	ENSP00000374611:A473T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	HEATR5A|HEATR5A|HEATR5A	30922639|30922639|30922639	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.253000|0.253000|0.253000	0.25986|0.25986|0.25986	5.843000|5.843000|5.843000	0.69424|0.69424|0.69424	2.788000|2.788000|2.788000	0.95919|0.95919|0.95919	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GCA|GGC|TGG		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		T	31852888	C	T	31852888	3	4	121	1	0	0	0	0	1	0	0	0	7031	739	26	3	4813	3	HEATR5A	14	31852888	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		31852888	75496652	53	8343											
RYR3	6263	broad.mit.edu	37	chr15	34049760	34049760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccccttagcagcagcGgatatgcctcccataaggag	11	7	11	12	1	0	1	0	1	0	0	1	3	1	3	4	2	5	2	4	2	4	3	rs372740672		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:34049760G>A	ENST00000389232.4	+	60	8738	c.8668G>A	c.(8668-8670)Gga>Aga	p.G2890R	RYR3_ENST00000415757.3_Missense_Mutation_p.G2890R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2890					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGCAGCAGCGGATATGCCTC	0.512																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8668-8670)Gga>Aga		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.		G	ARG/GLY	0,3848		0,0,1924	76	71	73		8668	5.4	1	15		73	1,8295		0,1,4147	no	missense	RYR3	NM_001036.3	125	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	2890/4871	34049760	1,12143	1924	4148	6072	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049760G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8668G>A	15.37:g.34049760G>A	ENSP00000373884:p.Gly2890Arg					RYR3_uc010bar.3_Missense_Mutation_p.G2890R	p.G2890R	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	59	8738	+		all_lung(180;7.18e-09)	2890					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8668G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066529	0.93898	0.0	1.21E-4	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98120	-4.73;-4.71	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.83275	0.774;0.996	D	0.99647	1.0990	10	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	2890;2890	Q15413-2;Q15413	.;RYR3_HUMAN	R	2890	ENSP00000373884:G2890R;ENSP00000399610:G2890R	ENSP00000354735:G2890R	G	+	1	0	RYR3	31837052	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	9.569000	0.98170	2.826000	0.97356	0.655000	0.94253	GGA		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34049760	G	A	34049760	3	1	121	1	0	0	0	0	1	0	0	0	13770	1117	39	2	8906	2	RYR3	15	34049760	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		34049760	68481632	54	8344											
SPTBN5	51332	broad.mit.edu	37	chr15	42162053	42162053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccgccgtgcggaagcGggccaggaggcgtgcccgct	5	4	16	16	6	1	0	1	0	0	0	1	2	1	2	5	4	3	1	5	4	1	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:42162053G>A	ENST00000320955.6	-	32	6066	c.5839C>T	c.(5839-5841)Cgc>Tgc	p.R1947C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1947					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGCGGAAGCGGGCCAGGAGG	0.682																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5734-5736)Cgc>Tgc		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							7	8	7					15																	42162053		2112	4133	6245	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162053G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5839C>T	15.37:g.42162053G>A	ENSP00000317790:p.Arg1947Cys						p.R1912C	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	31	6067	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1947						Missense_Mutation	SNP	ENST00000320955.6	37	c.5734C>T		.	.	.	.	.	.	.	.	.	.	.	17.25	3.340803	0.60963	.	.	ENSG00000137877	ENST00000320955	T	0.53640	0.61	4.85	3.87	0.44632	.	0.822657	0.11032	N	0.607078	T	0.62551	0.2437	M	0.68593	2.085	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.54603	-0.8269	10	0.87932	D	0	.	13.9329	0.64007	0.0:0.1678:0.8322:0.0	.	1947	Q9NRC6	SPTN5_HUMAN	C	1947	ENSP00000317790:R1947C	ENSP00000317790:R1947C	R	-	1	0	SPTBN5	39949345	0.968000	0.33430	0.737000	0.30932	0.757000	0.42996	1.780000	0.38634	2.248000	0.74166	0.561000	0.74099	CGC		0.682	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42162053	G	A	42162053	3	1	121	1	0	0	0	0	1	0	0	0	15121	1116	39	2	5333	2	SPTBN5	15	42162053	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	8112293	42162053	60369339	55	8345											
GALK2	2585	broad.mit.edu	37	chr15	49620177	49620177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcaagggtcacgacttActggagcaggatggggaggc	9	6	18	8	1	2	0	2	0	0	0	2	4	2	3	0	7	2	2	0	7	2	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:49620177A>G	ENST00000560031.1	+	10	1505	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	GALK2_ENST00000396509.2_Missense_Mutation_p.T376A|GALK2_ENST00000544523.1_Missense_Mutation_p.T376A|GALK2_ENST00000559454.1_Missense_Mutation_p.T376A|GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000327171.3_Missense_Mutation_p.T389A			Q01415	GALK2_HUMAN	galactokinase 2	400					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTCACGACTTACTGGAGCAGG	0.438																																						uc001zxj.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1198-1200)Act>Gct		Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.							93	94	94					15																	49620177		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49620177A>G		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1198A>G	15.37:g.49620177A>G	ENSP00000453129:p.Thr400Ala					GALK2_uc001zxi.1_Missense_Mutation_p.T389A|GALK2_uc010ufb.1_Missense_Mutation_p.T376A|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.T376A	p.T400A	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	9	1296	+		all_lung(180;0.000325)	400					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.1198A>G	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782135	0.90282	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.91351	-2.83;-2.83	5.54	5.54	0.83059	GHMP kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98130	1.0430	10	0.87932	D	0	-6.8184	15.8465	0.78895	1.0:0.0:0.0:0.0	.	400;389	Q01415;Q7Z4Q4	GALK2_HUMAN;.	A	389;400;376	ENSP00000316632:T389A;ENSP00000440312:T376A	ENSP00000316632:T389A	T	+	1	0	GALK2	47407469	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.139000	0.94554	2.326000	0.78906	0.533000	0.62120	ACT		0.438	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			G	49620177	A	G	49620177	3	3	121	1	0	0	0	0	1	0	0	0	6204	391	14	4	1260	4	GALK2	15	49620177	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	7458124	49620177	52911215	56	8346											
MYO15A	51168	broad.mit.edu	37	chr17	18052554	18052554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaacagctgggactcGgatgaggacatgtccactag	10	9	14	8	1	0	1	0	1	0	0	2	5	1	5	1	4	2	1	1	4	2	2	rs377504192		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:18052554G>A	ENST00000205890.5	+	34	7319	c.6981G>A	c.(6979-6981)tcG>tcA	p.S2327S	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2327	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGGGACTCGGATGAGGACA	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		18571	0		0	False		,,,				2504	0					uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6979-6981)tcG>tcA		Homo sapiens myosin XVA (MYO15A), mRNA.		G		1,4013		0,1,2006	47	49	48		6981	-7.5	0.5	17		48	0,8348		0,0,4174	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6180	AA,AG,GG		0.0,0.0249,0.0081		2327/3531	18052554	1,12361	2007	4174	6181	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052554G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6981G>A	17.37:g.18052554G>A						MYO15A_uc021trl.1_Silent_p.S2325S	p.S2327S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			32	7200	+	all_neural(463;0.228)		2327			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.6981G>A	CCDS42271.1																																																																																				0.537	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18052554	G	A	18052554	2	1	121	1	0	0	0	0	0	0	0	1	10063	1103	39	2		2	MYO15A	17	18052554	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08		18052554	63142656	57	8347											
MYO1D	4642	broad.mit.edu	37	chr17	31107790	31107790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatgaacgtatagatgcgCcctttttcaaatctgtacag	12	12	7	10	2	2	2	1	1	1	1	2	2	2	2	2	0	3	2	2	0	6	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:31107790C>T	ENST00000318217.5	-	2	412	c.108G>A	c.(106-108)ggG>ggA	p.G36G	MYO1D_ENST00000583621.1_Silent_p.G36G|MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000579584.1_Silent_p.G36G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	36	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATAGATGCGCCCTTTTTCAA	0.413																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(106-108)ggG>ggA		Homo sapiens myosin ID (MYO1D), mRNA.							58	51	53					17																	31107790		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31107790C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.108G>A	17.37:g.31107790C>T						MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.2_Silent_p.G36G	p.G36G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		1	120	-			36			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.108G>A	CCDS32615.1																																																																																				0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			T	31107790	C	T	31107790	2	4	121	1	0	0	0	0	0	0	0	1	10071	726	26	3		3	MYO1D	17	31107790	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	13055236	31107790	50087420	58	8348											
SLC4A1	6521	broad.mit.edu	37	chr17	42335421	42335421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaagatgacggcagccagGacctgggggctgaatgcatc	11	6	15	9	1	0	4	0	3	0	1	1	5	0	5	2	4	2	3	2	4	2	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:42335421G>A	ENST00000262418.6	-	11	1370	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	405	Membrane (anion exchange).		Missing (in EL4; increased rigidity of the erythrocyte membrane leading to increased resistance to shear stress and increased resistance to P.falciparum). {ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:1722314}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGCAGCCAGGACCTGGGGGC	0.597																																						uc002igf.4																			0		p.Q404H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1213-1215)gtC>gtT		Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.							79	77	77					17																	42335421		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335421G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1215C>T	17.37:g.42335421G>A						SLC4A1_uc021tyc.1_Intron	p.V405V	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1364	-		Breast(137;0.014)|Prostate(33;0.0181)	405		Missing (in EL4).	Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1215C>T	CCDS11481.1																																																																																				0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		A	42335421	G	A	42335421	2	1	121	1	0	0	0	0	0	0	0	1	14650	1161	41	3		3	SLC4A1	17	42335421	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	11227631	42335421	38859789	59	8349											
RBBP8	5932	broad.mit.edu	37	chr18	20564928	20564928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctagtagctgacacttaTgaccaaagtcaatctccaat	14	12	5	10	0	3	2	1	2	2	0	4	2	3	2	2	0	1	2	2	0	6	4	rs199995388	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr18:20564928T>C	ENST00000399722.2	+	8	1035	c.684T>C	c.(682-684)taT>taC	p.Y228Y	RBBP8_ENST00000399725.2_Silent_p.Y228Y|RBBP8_ENST00000360790.5_Silent_p.Y228Y|RBBP8_ENST00000327155.5_Silent_p.Y228Y	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	228					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGACACTTATGACCAAAGTC	0.353								Homologous recombination					T|||	2	0.000399361	0	0.0014	5008	,	,		12372	0.001		0	False		,,,				2504	0					uc002kua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(682-684)taT>taC	Homologous recombination	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.							95	94	94					18																	20564928		2203	4297	6500	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20564928T>C	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.684T>C	18.37:g.20564928T>C						RBBP8_uc002ktw.3_Silent_p.Y228Y|RBBP8_uc002kty.3_Silent_p.Y228Y|RBBP8_uc002ktz.3_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	p.Y228Y	NM_203291	NP_976036	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		7	807	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		228					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.684T>C	CCDS11875.1																																																																																				0.353	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		C	20564928	T	C	20564928	2	2	121	1	0	0	0	0	0	0	0	1	13105	1471	51	4		4	RBBP8	18	20564928	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08		20564928	57512320	60	8350											
C3	718	broad.mit.edu	37	chr19	6677900	6677900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgggggtgtggtcagttgGggcacccaaagacaaccatg	11	7	15	8	0	1	1	1	0	0	1	1	1	1	1	2	5	1	2	2	5	3	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:6677900G>T	ENST00000245907.6	-	41	5077	c.4985C>A	c.(4984-4986)cCc>cAc	p.P1662H	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1662					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGGTCAGTTGGGGCACCCAAA	0.557																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4984-4986)cCc>cAc		Homo sapiens complement component 3 (C3), mRNA.							94	78	83					19																	6677900		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677900G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4985C>A	19.37:g.6677900G>T	ENSP00000245907:p.Pro1662His						p.P1662H	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	40	5047	-			1662					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4985C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897893	0.52227	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	5.08	5.08	0.68730	.	0.127712	0.52532	U	0.000062	T	0.60599	0.2281	M	0.85197	2.74	0.41436	D	0.987895	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	T	0.67964	-0.5534	10	0.72032	D	0.01	.	15.9919	0.80211	0.0:0.0:1.0:0.0	.	1662;1097	P01024;B4E216	CO3_HUMAN;.	H	1662	ENSP00000245907:P1662H	ENSP00000245907:P1662H	P	-	2	0	C3	6628900	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	5.786000	0.69006	2.372000	0.80975	0.454000	0.30748	CCC		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6677900	G	T	6677900	3	4	121	1	0	0	0	0	1	0	0	0	2204	1232	43	5	10	5	C3	19	6677900	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		6677900	52451083	61	8351											
FKBP8	23770	broad.mit.edu	37	chr19	18649190	18649190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcccgtccacagccGtcttcagggtcacctccagg	6	7	12	16	2	4	0	3	0	1	0	6	0	6	0	5	4	1	0	5	4	0	1	rs201710065		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:18649190G>A	ENST00000596558.2	-	5	714	c.605C>T	c.(604-606)aCg>aTg	p.T202M	FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Missense_Mutation_p.T202M|FKBP8_ENST00000597960.3_Missense_Mutation_p.T203M|FKBP8_ENST00000608443.1_Missense_Mutation_p.T203M|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.T231M			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	202	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTCCACAGCCGTCTTCAGGGT	0.697													G|||	1	0.000199681	0	0	5008	,	,		16088	0.001		0	False		,,,				2504	0					uc002njk.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(604-606)aCg>aTg		Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.							23	25	24					19																	18649190		2203	4298	6501	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649190G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.605C>T	19.37:g.18649190G>A	ENSP00000472302:p.Thr202Met					FKBP8_uc010xqi.1_Missense_Mutation_p.T231M|FKBP8_uc002njj.1_Missense_Mutation_p.T203M|FKBP8_uc021uqp.1_Intron	p.T202M	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			4	718	-			202			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.605C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.847	1.192703	0.21954	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.55052	0.54;0.54	3.79	2.76	0.32466	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.564341	0.18448	N	0.140925	T	0.51941	0.1704	L	0.42744	1.35	0.29703	N	0.839995	D;P;D;D	0.76494	0.997;0.87;0.97;0.999	P;B;B;P	0.55087	0.495;0.095;0.192;0.768	T	0.49532	-0.8930	10	0.49607	T	0.09	-5.1663	5.864	0.18765	0.0972:0.0:0.5937:0.3092	.	231;146;202;203	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	M	203;231	ENSP00000222308:T203M;ENSP00000388891:T231M	ENSP00000222308:T203M	T	-	2	0	FKBP8	18510190	0.740000	0.28207	0.451000	0.26982	0.156000	0.22039	1.214000	0.32419	0.817000	0.34445	0.561000	0.74099	ACG		0.697	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		A	18649190	G	A	18649190	3	1	121	1	0	0	0	0	1	0	0	0	5914	1145	40	1	653	1	FKBP8	19	18649190	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	11971290	18649190	40479793	62	8352											
TMEM147	10430	broad.mit.edu	37	chr19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgtcatgtcccggaatgCcggcaagggagagtacaaga	11	7	13	10	2	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	4	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36037641C>T	ENST00000222284.5	+	4	420	c.275C>T	c.(274-276)gCc>gTc	p.A92V	TMEM147_ENST00000392204.2_Missense_Mutation_p.A43V|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.A92V|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	92						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A92V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572																																						uc002oaj.2																			1	Substitution - Missense(1)	p.A92V(2)|p.A92A(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(274-276)gCc>gTc		Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.							103	90	94					19																	36037641		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037641C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.275C>T	19.37:g.36037641C>T	ENSP00000222284:p.Ala92Val					AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	p.A92V	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	415	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		92					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.275C>T	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962852	0.74016	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	.	0.051996	0.85682	D	0.000000	T	0.36744	0.0978	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	P	0.45998	0.5	T	0.07597	-1.0764	10	0.06236	T	0.91	-13.738	16.5222	0.84320	0.0:1.0:0.0:0.0	.	92	Q9BVK8	TM147_HUMAN	V	43;92;92	ENSP00000376040:A43V;ENSP00000222284:A92V;ENSP00000376041:A92V	ENSP00000222284:A92V	A	+	2	0	TMEM147	40729481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	2.764000	0.94973	0.655000	0.94253	GCC		0.572	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		T	36037641	C	T	36037641	3	4	121	1	0	0	0	0	1	0	0	0	16058	739	26	3	289	3	TMEM147	19	36037641	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	17388451	36037641	23091342	63	8353											
NPHS1	4868	broad.mit.edu	37	chr19	36339161	36339161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggggctcacattttaCgttcaggatgagcgacttct	8	11	13	9	2	3	1	2	1	1	0	3	3	3	2	0	4	2	3	0	4	1	4	rs386833878		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36339161C>T	ENST00000378910.5	-	10	1308	c.1309G>A	c.(1309-1311)Gta>Ata	p.V437I	NPHS1_ENST00000353632.6_Missense_Mutation_p.V437I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	437					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.V437I(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACATTTTACGTTCAGGATG	0.582																																						uc002oby.3																			1	Substitution - Missense(1)	p.V437I(2)	large_intestine(1)	NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	GRCh37	CI983172	NPHS1	I		c.(1309-1311)Gta>Ata		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							101	102	102					19																	36339161		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339161C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1309G>A	19.37:g.36339161C>T	ENSP00000368190:p.Val437Ile						p.V437I	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1465	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		437					A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1309G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197676	0.22037	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.92595	-3.07;-3.07	4.71	2.59	0.31030	Immunoglobulin-like fold (1);	0.218004	0.37761	N	0.001960	D	0.94522	0.8236	M	0.63169	1.94	0.28449	N	0.916448	D	0.89917	1.0	D	0.83275	0.996	D	0.89891	0.4037	10	0.56958	D	0.05	-12.7482	13.0041	0.58694	0.0:0.9104:0.0:0.0896	.	437	O60500	NPHN_HUMAN	I	437	ENSP00000368190:V437I;ENSP00000343634:V437I	ENSP00000343634:V437I	V	-	1	0	NPHS1	41031001	0.724000	0.28038	0.831000	0.32960	0.027000	0.11550	1.459000	0.35234	0.609000	0.30018	-1.212000	0.01626	GTA		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			T	36339161	C	T	36339161	3	4	121	1	0	0	0	0	1	0	0	0	10582	536	19	1	2496	1	NPHS1	19	36339161	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	301520	36339161	22789822	64	8354											
TTYH1	57348	broad.mit.edu	37	chr19	54930375	54930375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcgctgtctacctcaTccgcttctgctgctgccggc	3	14	8	16	3	4	0	2	0	2	0	6	0	5	0	3	1	4	4	3	1	1	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:54930375T>C	ENST00000376530.3	+	2	303	c.200T>C	c.(199-201)aTc>aCc	p.I67T	TTYH1_ENST00000376531.3_Missense_Mutation_p.I67T|TTYH1_ENST00000391739.3_Missense_Mutation_p.I116T|TTYH1_ENST00000301194.4_Missense_Mutation_p.I67T	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	67					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTCTACCTCATCCGCTTCTGC	0.682																																						uc002qfr.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(199-201)aTc>aCc		Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.							57	60	59					19																	54930375		2203	4299	6502	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54930375T>C	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.200T>C	19.37:g.54930375T>C	ENSP00000365713:p.Ile67Thr					TTYH1_uc010yey.2_Missense_Mutation_p.I116T|TTYH1_uc002qfq.3_Missense_Mutation_p.I67T|TTYH1_uc002qft.3_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	p.I67T	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	1	322	+	Ovarian(34;0.19)		67					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.200T>C	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926931	0.73327	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	3.5	3.5	0.40072	.	0.167882	0.40640	N	0.001052	T	0.25494	0.0620	L	0.43152	1.355	0.51767	D	0.999934	D;D;D;D	0.69078	0.997;0.985;0.996;0.997	D;P;P;D	0.80764	0.994;0.843;0.888;0.994	T	0.00893	-1.1524	10	0.40728	T	0.16	-22.6537	10.324	0.43783	0.0:0.0:0.0:1.0	.	116;67;67;67	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	T	39;63;67;67;116;116;67	ENSP00000391282:I63T;ENSP00000301194:I67T;ENSP00000365713:I67T;ENSP00000393592:I116T;ENSP00000375619:I116T;ENSP00000365714:I67T	ENSP00000301194:I67T	I	+	2	0	TTYH1	59622187	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.539000	0.67199	1.611000	0.50210	0.454000	0.30748	ATC		0.682	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			C	54930375	T	C	54930375	3	2	121	1	0	0	0	0	1	0	0	0	16736	1435	50	4	206	4	TTYH1	19	54930375	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	18591214	54930375	4198608	65	8355											
ZNF418	147686	broad.mit.edu	37	chr19	58441862	58441862	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcatctctgaacctcacTaaggagactccactcctcct	11	9	6	15	0	2	2	1	1	1	1	6	3	5	2	4	2	1	1	4	2	3	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:58441862T>A	ENST00000396147.1	-	3	358	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	ZNF418_ENST00000425570.3_Missense_Mutation_p.S44C|ZNF418_ENST00000600989.1_Missense_Mutation_p.S23C|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.S23C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACCTCACTAAGGAGACTC	0.483																																						uc002qqs.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(67-69)Agt>Tgt		Homo sapiens zinc finger protein 418 (ZNF418), mRNA.							178	166	170					19																	58441862		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58441862T>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.67A>T	19.37:g.58441862T>A	ENSP00000379451:p.Ser23Cys					ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron	p.S23C	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	2	359	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	23			KRAB.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.67A>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.805220	0.50315	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.01838	4.61;4.61	2.75	-0.401	0.12407	Krueppel-associated box (4);	.	.	.	.	T	0.07413	0.0187	M	0.68317	2.08	0.09310	N	1	P	0.51537	0.946	P	0.62089	0.898	T	0.19844	-1.0293	9	0.87932	D	0	.	5.9949	0.19489	0.0:0.5032:0.0:0.4968	.	23	Q8TF45	ZN418_HUMAN	C	23;44	ENSP00000379451:S23C;ENSP00000407039:S44C	ENSP00000379451:S23C	S	-	1	0	ZNF418	63133674	0.007000	0.16637	0.047000	0.18901	0.267000	0.26476	0.119000	0.15626	-0.163000	0.10946	0.260000	0.18958	AGT		0.483	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		A	58441862	T	A	58441862	3	1	121	1	0	0	0	0	1	0	0	0	17892	1522	53	5	1971	5	ZNF418	19	58441862	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	3511487	58441862	687121	66	8356											
PROKR2	128674	broad.mit.edu	37	chr20	5283335	5283335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgatcaggaaggaggccGtttgataattcatccgtggt	10	10	14	7	3	2	1	2	1	0	0	3	4	3	3	2	5	0	1	2	5	2	3	rs527771034	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:5283335G>A	ENST00000217270.3	-	2	505	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PROKR2_ENST00000546004.1_Missense_Mutation_p.T169M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	169					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAGGAGGCCGTTTGATAATT	0.488										HNSCC(71;0.22)			G|||	2	0.000399361	8e-04	0.0014	5008	,	,		23442	0		0	False		,,,				2504	0					uc010zqw.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(505-507)aCg>aTg		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.							120	128	125					20																	5283335		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283335G>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.506C>T	20.37:g.5283335G>A	ENSP00000217270:p.Thr169Met	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.T169M|PROKR2_uc010zqy.2_Missense_Mutation_p.T169M	p.T169M	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	514	-			169					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.506C>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791932	0.50102	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38077	1.16;1.16	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.61218	1.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.63877	0.919	T	0.54063	-0.8349	10	0.44086	T	0.13	.	15.9344	0.79691	0.0:0.0:1.0:0.0	.	169	Q8NFJ6	PKR2_HUMAN	M	169	ENSP00000440790:T169M;ENSP00000217270:T169M	ENSP00000217270:T169M	T	-	2	0	PROKR2	5231335	1.000000	0.71417	0.923000	0.36655	0.224000	0.24922	9.294000	0.96088	2.354000	0.79902	0.655000	0.94253	ACG		0.488	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5283335	G	A	5283335	3	1	121	1	0	0	0	0	1	0	0	0	12553	1145	40	1	651	1	PROKR2	20	5283335	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		5283335	57742185	67	8357											
SEMG2	6407	broad.mit.edu	37	chr20	43851266	43851266	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcaaaaccaggtaacAattcatagtcaagatcaaga	19	8	6	8	0	4	2	4	0	1	2	5	2	4	2	1	1	2	1	1	1	8	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:43851266A>G	ENST00000372769.3	+	2	1083	c.993A>G	c.(991-993)acA>acG	p.T331T		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACCAGGTAACAATTCATAGTC	0.373																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(991-993)acA>acG		Homo sapiens semenogelin II (SEMG2), mRNA.							79	76	77					20																	43851266		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851266A>G		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.993A>G	20.37:g.43851266A>G						SEMG2_uc002xnk.3_Silent_p.T331T|SEMG2_uc002xnl.3_Silent_p.T331T	p.T331T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			1	1050	+		Myeloproliferative disorder(115;0.0122)	331			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.993A>G	CCDS13346.1																																																																																				0.373	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		G	43851266	A	G	43851266	2	3	121	1	0	0	0	0	0	0	0	1	14045	117	5	4		4	SEMG2	20	43851266	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	38567931	43851266	19174254	68	8358											
WFDC8	90199	broad.mit.edu	37	chr20	44180784	44180784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatagcaagggcttgcGtgggcagaaaccttttttga	10	11	13	7	1	0	2	0	1	0	1	0	2	0	2	1	3	4	4	1	3	4	6	rs371165838		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:44180784G>A	ENST00000357199.4	-	6	685	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	WFDC8_ENST00000289953.2_Missense_Mutation_p.R203C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	203	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAGGGCTTGCGTGGGCAGAAA	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		19065	0		0	False		,,,				2504	0					uc002xow.3																			0		p.P202Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(607-609)Cgc>Tgc		Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113	97	103		607,607	1.2	0	20		103	0,8600		0,0,4300	no	missense,missense	WFDC8	NM_130896.2,NM_181510.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	203/242,203/242	44180784	1,13005	2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180784G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.607C>T	20.37:g.44180784G>A	ENSP00000361735:p.Arg203Cys					WFDC8_uc002xox.3_Missense_Mutation_p.R203C	p.R203C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			5	686	-		Myeloproliferative disorder(115;0.0122)	203			WAP 3.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.607C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162309	0.21538	2.27E-4	0.0	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72942	-0.7;-0.7	4.42	1.16	0.20824	Whey acidic protein, 4-disulphide core (4);	1.994410	0.02086	N	0.052769	T	0.81133	0.4759	M	0.81341	2.54	0.09310	N	1	D	0.69078	0.997	P	0.57846	0.828	T	0.55617	-0.8113	10	0.52906	T	0.07	.	5.0509	0.14508	0.1021:0.0:0.4901:0.4078	.	203	Q8IUA0	WFDC8_HUMAN	C	203	ENSP00000361735:R203C;ENSP00000289953:R203C	ENSP00000289953:R203C	R	-	1	0	WFDC8	43614198	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-0.392000	0.07314	0.159000	0.19401	0.551000	0.68910	CGC		0.423	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			A	44180784	G	A	44180784	3	1	121	1	0	0	0	0	1	0	0	0	17353	1145	40	1	122	1	WFDC8	20	44180784	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	329518	44180784	18844736	69	8359											
MOCS3	8813	broad.mit.edu	37	chr20	49575846	49575846	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcagtggaatgcgtgcCgtacactcaggcccttacgc	7	9	12	13	4	1	0	1	0	0	0	2	1	1	1	2	3	4	2	2	3	3	3	rs372128666		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:49575846C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Missense_Mutation_p.P156L|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GAATGCGTGCCGTACACTCAG	0.657																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(466-468)cCg>cTg		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.		C	LEU/PRO	0,4406		0,0,2203	51	50	50		467	5.8	1	20		50	1,8599		0,1,4299	no	missense	MOCS3	NM_014484.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	156/461	49575846	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575846C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575846C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.P156L	NM_014484	NP_055299	O95396	MOCS3_HUMAN			0	484	+			156					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.467C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856700	0.51376	0.0	1.16E-4	ENSG00000124217	ENST00000244051	T	0.30448	1.53	5.79	5.79	0.91817	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.053947	0.85682	D	0.000000	T	0.23532	0.0569	N	0.19112	0.55	0.80722	D	1	B	0.21688	0.059	B	0.19391	0.025	T	0.05750	-1.0866	9	.	.	.	-11.0961	19.6358	0.95733	0.0:1.0:0.0:0.0	.	156	O95396	MOCS3_HUMAN	L	156	ENSP00000244051:P156L	.	P	+	2	0	MOCS3	49009253	0.989000	0.36119	0.957000	0.39632	0.784000	0.44337	3.387000	0.52501	2.746000	0.94184	0.561000	0.74099	CCG		0.657	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		T	49575846	C	T	49575846	1	4	121	0	1	0	0	0	0	0	0	0	9692	652	23	2		2	MOCS3	20	49575846	5'Flank	SNP	C	TCGA-12-3652-01A-01D-1495-08	5395062	49575846	13449674	70	8360											
UMODL1	89766	broad.mit.edu	37	chr21	43496188	43496188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacagaaggtggaggccGtgcagacgtcctacacgtcc	9	7	13	12	3	0	2	0	0	0	2	2	3	2	3	3	3	3	2	3	3	3	2	rs571308622		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr21:43496188G>C	ENST00000408910.2	+	2	151	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L	UMODL1_ENST00000408989.2_Missense_Mutation_p.V51L|UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000400424.2_5'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	51	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGGAGGCCGTGCAGACGTC	0.587																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(151-153)Gtg>Ctg		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							100	110	107					21																	43496188		2030	4182	6212	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43496188G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.151G>C	21.37:g.43496188G>C	ENSP00000386147:p.Val51Leu					UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51L|AX748362_uc002zah.1_Non-coding_Transcript	p.V51L	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			1	151	+			51			EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.151G>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	8.984	0.975947	0.18736	.	.	ENSG00000177398	ENST00000408989;ENST00000408910	T;T	0.44083	0.93;0.93	4.44	-0.108	0.13588	EMI domain (2);	1.336490	0.05361	N	0.533709	T	0.38026	0.1025	L	0.27053	0.805	0.09310	N	1	P;P	0.52170	0.951;0.858	P;P	0.50314	0.637;0.541	T	0.33854	-0.9852	10	0.46703	T	0.11	-10.6549	6.4601	0.21952	0.1003:0.0:0.2753:0.6244	.	51;51	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	L	51	ENSP00000386126:V51L;ENSP00000386147:V51L	ENSP00000386147:V51L	V	+	1	0	UMODL1	42369257	0.154000	0.22792	0.001000	0.08648	0.063000	0.16089	0.362000	0.20284	0.138000	0.18790	0.655000	0.94253	GTG		0.587	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43496188	G	C	43496188	3	2	121	1	0	0	0	0	1	0	0	0	16977	1145	40	5	157	5	UMODL1	21	43496188	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		43496188	4633707	71	8361											
MAGEB4	4115	broad.mit.edu	37	chrX	30260502	30260502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactggatctgataaaggcGacgagagccaagatgaggaa	15	5	14	7	2	1	4	0	2	1	2	1	8	1	6	1	3	1	1	1	3	4	1	rs201048812		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:30260502G>A	ENST00000378982.2	+	1	446	c.250G>A	c.(250-252)Gac>Aac	p.D84N	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	84										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGATAAAGGCGACGAGAGCCA	0.517																																						uc004dcb.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(250-252)Gac>Aac		Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.		G	ASN/ASP	0,3833		0,0,1631,571	59	46	51		250	1.4	0	X		51	1,6727		0,1,2427,1872	yes	missense	MAGEB4	NM_002367.3	23	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging	84/347	30260502	1,10560	2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260502G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.250G>A	X.37:g.30260502G>A	ENSP00000368266:p.Asp84Asn					MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	p.D84N	NM_002367	NP_002358	O15481	MAGB4_HUMAN			0	446	+			84					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.250G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871311	0.33069	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.04119	3.7	3.37	1.43	0.22495	Melanoma associated antigen, MAGE, N-terminal (1);	2.332850	0.04648	U	0.406486	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	P	0.41041	0.736	B	0.41666	0.363	T	0.33803	-0.9854	10	0.59425	D	0.04	.	3.7135	0.08428	0.139:0.0:0.6234:0.2376	.	84	O15481	MAGB4_HUMAN	N	84	ENSP00000368266:D84N	ENSP00000368266:D84N	D	+	1	0	MAGEB4	30170423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.272000	0.08560	0.232000	0.21100	0.544000	0.68410	GAC		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		A	30260502	G	A	30260502	3	1	121	1	0	0	0	0	1	0	0	0	9178	1058	37	2	252	2	MAGEB4	23	30260502	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		30260502	125010058	72	8362											
AR	367	broad.mit.edu	37	chrX	66937441	66937441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactccaggatgctctacttCgcccctgatctggttttcaa	8	13	7	13	1	3	1	1	1	2	0	5	2	4	2	3	2	3	2	3	2	3	4	rs369390411		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:66937441C>T	ENST00000374690.3	+	5	2819	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Silent_p.F233F	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	764	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		A -> T (in AIS; loss of androgen binding). {ECO:0000269|PubMed:1426313, ECO:0000269|PubMed:9252933, ECO:0000269|PubMed:9328206, ECO:0000269|PubMed:9856504}.|A -> V (in AIS).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542									Androgen Insensitivity Syndrome																													uc004dwu.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM921035	AR	M		c.(2293-2295)ttC>ttT		Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)		,	0,3835		0,0,0,1632,571	123	88	100		2295,699	-10.2	0.5	X		100	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	AR	NM_000044.3,NM_001011645.2	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,	765/921,233/389	66937441	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66937441C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2295C>T	X.37:g.66937441C>T						AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	p.F765F	NM_000044	NP_000035	P10275	ANDR_HUMAN			4	3410	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	764		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).	Interaction with MYST2.|Ligand-binding.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.2295C>T	CCDS14387.1																																																																																				0.542	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66937441	C	T	66937441	2	4	121	1	0	0	0	0	0	0	0	1	836	883	31	2		2	AR	23	66937441	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	36676939	66937441	88333119	73	8363											
KDM5D	8284	broad.mit.edu	37	chrY	21897252	21897252	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacaaactgggcactgcTgtgattctttcgaagttgca	9	13	9	10	1	1	1	0	1	1	0	2	2	1	1	1	1	4	4	1	1	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrY:21897252T>A	ENST00000317961.4	-	8	1190	c.919A>T	c.(919-921)Agc>Tgc	p.S307C	KDM5D_ENST00000541639.1_Missense_Mutation_p.S307C|KDM5D_ENST00000382806.2_Missense_Mutation_p.S250C	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	307					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGGGCACTGCTGTGATTCTTT	0.398																																						uc004fug.3																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(919-921)Agc>Tgc		Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	Vitamin C(DB00126)																																			SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21897252T>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.919A>T	Y.37:g.21897252T>A	ENSP00000322408:p.Ser307Cys					KDM5D_uc011naz.2_Missense_Mutation_p.S307C|KDM5D_uc010nwy.3_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	p.S307C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			7	1207	-			307					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.919A>T	CCDS14794.1																																																																																				0.398	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		A	21897252	T	A	21897252	3	1	121	1	0	0	0	0	1	0	0	0	8136	1580	55	5	3877	5	KDM5D	24	21897252	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08		21897252	37476314	74	8364											
KIAA1751	85452	broad.mit.edu	37	chr1	1900084	1900084	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctcaccagtgtgtacGtgttggttgggactgtggtc	4	16	14	7	1	1	0	1	0	0	0	2	1	1	1	1	3	2	4	1	3	1	5	rs150108692	byFrequency	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:1900084G>A								TMEM52 (49372 upstream) : C1orf222 (19478 downstream)																							CAGTGTGTACGTGTTGGTTGG	0.582													g|||	2	0.000399361	0	0	5008	,	,		21281	0.002		0	False		,,,				2504	0					uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1234-1236)aCg>aTg		Homo sapiens KIAA1751 (KIAA1751), mRNA.		G	MET/THR	0,4106		0,0,2053	161	163	163		1235	-5.8	0	1	dbSNP_134	163	2,8372		0,2,4185	no	missense	KIAA1751	NM_001080484.1	81	0,2,6238	AA,AG,GG		0.0239,0.0,0.016	probably-damaging	412/763	1900084	2,12478	2053	4187	6240	SO:0001628	intergenic_variant	85452							g.chr1:1900084G>A																													1.37:g.1900084G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M	p.T412M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1391	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	412						Missense_Mutation	SNP		37	c.1235C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	3.238	-0.155881	0.06544	0.0	2.39E-4	ENSG00000142609	ENST00000270720	.	.	.	2.89	-5.78	0.02362	.	14.379500	0.00166	N	0.000001	T	0.18130	0.0435	N	0.08118	0	0.09310	N	0.999999	B;B	0.18610	0.029;0.003	B;B	0.09377	0.004;0.002	T	0.17806	-1.0357	9	0.48119	T	0.1	.	6.0703	0.19885	0.2922:0.2422:0.4656:0.0	.	412;412	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	M	412	.	ENSP00000270720:T412M	T	-	2	0	C1orf222	1889944	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.169000	0.01269	-2.280000	0.00675	-1.086000	0.02197	ACG	0	0.582									A	1900084	G	A	1900084	1	1	122	0	1	0	0	0	0	0	0	0	8256	1145	40	1		1	KIAA1751	1	1900084	IGR	SNP	G	TCGA-12-3653-01A-01D-1495-08		1900084	247350537	1	8365											
MTF1	4520	broad.mit.edu	37	chr1	38323155	38323155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtcgtcatcttcatccTccaaagtgccagggtcctgc	6	11	9	15	2	3	0	2	0	1	0	8	0	7	0	5	1	2	0	5	1	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:38323155T>C	ENST00000373036.4	-	2	316	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	59					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCTTCATCCTCCAAAGTGCC	0.488																																						uc001cce.1																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(175-177)gAg>gGg		Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.							140	119	126					1																	38323155		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38323155T>C	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.176A>G	1.37:g.38323155T>C	ENSP00000362127:p.Glu59Gly					MTF1_uc009vvj.1_5'UTR	p.E59G	NM_005955	NP_005946	Q14872	MTF1_HUMAN			1	317	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	59					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.176A>G	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752312	0.69533	.	.	ENSG00000188786	ENST00000373036	T	0.11930	2.73	5.62	5.62	0.85841	.	0.051094	0.85682	D	0.000000	T	0.13713	0.0332	L	0.36672	1.1	0.51233	D	0.999915	P	0.39665	0.682	B	0.36534	0.227	T	0.01757	-1.1280	10	0.87932	D	0	.	15.8229	0.78673	0.0:0.0:0.0:1.0	.	59	Q14872	MTF1_HUMAN	G	59	ENSP00000362127:E59G	ENSP00000362127:E59G	E	-	2	0	MTF1	38095742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.396000	0.79891	2.126000	0.65437	0.528000	0.53228	GAG		0.488	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		C	38323155	T	C	38323155	3	2	122	1	0	0	0	0	1	0	0	0	9922	1551	54	4	2125	4	MTF1	1	38323155	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	36423071	38323155	210927466	2	8366											
WDR65	149465	broad.mit.edu	37	chr1	43649424	43649424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgatgacaagattgtcGttggcactgacacaggcaaa	12	9	12	8	1	0	4	0	3	0	1	1	4	0	4	0	3	0	4	0	3	2	2	rs142914910		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:43649424G>A	ENST00000372492.4	+	4	961	c.637G>A	c.(637-639)Gtt>Att	p.V213I	WDR65_ENST00000528956.1_Missense_Mutation_p.V213I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		213										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGATTGTCGTTGGCACTGA	0.502																																						uc021omk.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(637-639)Gtt>Att		Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	136	127	130		637,637,637	5.2	0.5	1	dbSNP_134	130	0,8600		0,0,4300	yes	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	213/699,213/699,213/699	43649424	3,13003	2203	4300	6503	SO:0001583	missense	149465							g.chr1:43649424G>A																												ENST00000372492.4:c.637G>A	1.37:g.43649424G>A	ENSP00000361570:p.Val213Ile					EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.V202I|WDR65_uc001ciq.2_Missense_Mutation_p.V213I|WDR65_uc001cip.2_Missense_Mutation_p.V213I	p.V213I	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN			3	783	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	213					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.637G>A		.	.	.	.	.	.	.	.	.	.	G	10.12	1.262669	0.23051	6.81E-4	0.0	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.07021	4.89;3.23	6.06	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.177217	0.49916	N	0.000138	T	0.11239	0.0274	M	0.75264	2.295	0.09310	N	1	B;B	0.14805	0.003;0.011	B;B	0.15484	0.003;0.013	T	0.25047	-1.0143	10	0.20046	T	0.44	.	9.5532	0.39324	0.0691:0.0:0.7018:0.2291	.	213;213	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	I	213	ENSP00000361570:V213I;ENSP00000435310:V213I	ENSP00000361570:V213I	V	+	1	0	WDR65	43422011	0.988000	0.35896	0.546000	0.28166	0.630000	0.37929	3.062000	0.49971	1.574000	0.49760	0.650000	0.86243	GTT		0.502	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			A	43649424	G	A	43649424	3	1	122	1	0	0	0	0	1	0	0	0	17313	1145	40	1	647	1	WDR65	1	43649424	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	5326269	43649424	205601197	3	8367											
RAD54L	8438	broad.mit.edu	37	chr1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattctcagtaaggttttgCggcctcatcagagagaggta	10	12	11	8	1	3	2	3	0	1	2	4	3	3	2	1	3	1	3	1	3	3	6	rs149141765		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	154					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R154W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0	0	5008	,	,		22956	0.001		0	False		,,,				2504	0					uc001cpl.2																			1	Substitution - Missense(1)	p.R154W(2)	cervix(1)	breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(460-462)Cgg>Tgg	Direct reversal of damage;Homologous recombination	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	139	128	132		460,460	3.8	1	1	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	154/748,154/748	46726266	2,13004	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726266C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.460C>T	1.37:g.46726266C>T	ENSP00000361043:p.Arg154Trp					RAD54L_uc009vye.2_Missense_Mutation_p.R154W	p.R154W	NM_003579	NP_003570	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	5	1171	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	154					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.460C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614125	0.66672	4.54E-4	0.0	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.95205	-3.64;-3.64	5.75	3.8	0.43715	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	-18.6346	13.7348	0.62811	0.4359:0.5641:0.0:0.0	.	154	Q92698	RAD54_HUMAN	W	154	ENSP00000396113:R154W;ENSP00000361043:R154W	ENSP00000361043:R154W	R	+	1	2	RAD54L	46498853	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	1.055000	0.30467	0.698000	0.31739	0.655000	0.94253	CGG		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		T	46726266	C	T	46726266	3	4	122	1	0	0	0	0	1	0	0	0	12993	759	27	1	482	1	RAD54L	1	46726266	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	3076842	46726266	202524355	4	8368											
LMX1A	4009	broad.mit.edu	37	chr1	165177351	165177351	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgctgctgctgtcGcctggccagcttcttcatct	2	15	10	14	1	3	0	1	0	2	0	4	0	3	0	2	1	6	6	2	1	0	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:165177351G>A	ENST00000342310.3	-	7	1148	c.766C>T	c.(766-768)Cga>Tga	p.R256*	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.R256*|LMX1A_ENST00000294816.2_Nonsense_Mutation_p.R256*|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	256	Gln-rich.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCTGCTGTCGCCTGGCCAGC	0.562																																						uc001gcz.2																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(766-768)Cga>Tga		Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.							69	54	59					1																	165177351		2203	4300	6503	SO:0001587	stop_gained	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177351G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.766C>T	1.37:g.165177351G>A	ENSP00000340226:p.Arg256*					LMX1A_uc021pdz.1_Nonsense_Mutation_p.R256*|LMX1A_uc021pdy.1_Nonsense_Mutation_p.R7*|LMX1A_uc001gcw.2_5'UTR	p.R256*	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN			6	960	-	all_hematologic(923;0.248)		256			Gln-rich.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Nonsense_Mutation	SNP	ENST00000342310.3	37	c.766C>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	38	7.181093	0.98118	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	.	.	.	5.13	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8961	0.52658	0.0:0.0:0.6853:0.3147	.	.	.	.	X	256	.	ENSP00000294816:R256X	R	-	1	2	LMX1A	163443975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.818000	0.39012	1.340000	0.45581	0.655000	0.94253	CGA		0.562	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		A	165177351	G	A	165177351	4	1	122	1	0	0	0	0	0	1	0	0	8861	1095	38	1	394	1	LMX1A	1	165177351	Nonsense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	118451085	165177351	84073270	5	8369											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873026	37873026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagggcccaagatcaagCtgcagggagaggagggaacc	13	3	17	8	0	1	3	1	1	0	2	1	6	1	5	2	4	3	2	2	4	3	0			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:37873026C>A	ENST00000295324.3	-	2	1705	c.705G>T	c.(703-705)caG>caT	p.Q235H	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	235					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CAAGATCAAGCTGCAGGGAGA	0.463																																						uc021vfz.1																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(703-705)caG>caT		Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.							69	76	73					2																	37873026		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873026C>A	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.705G>T	2.37:g.37873026C>A	ENSP00000295324:p.Gln235His					CDC42EP3_uc002rqi.1_Missense_Mutation_p.Q235H	p.Q235H	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN			0	705	-		all_hematologic(82;0.172)	235					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.705G>T	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625712	0.28889	.	.	ENSG00000163171	ENST00000295324	T	0.27104	1.69	5.91	5.91	0.95273	.	0.051332	0.85682	D	0.000000	T	0.20941	0.0504	N	0.16368	0.405	0.46044	D	0.998839	D	0.61080	0.989	P	0.53912	0.737	T	0.06058	-1.0848	10	0.02654	T	1	.	11.1023	0.48182	0.0:0.9171:0.0:0.0829	.	235	Q9UKI2	BORG2_HUMAN	H	235	ENSP00000295324:Q235H	ENSP00000295324:Q235H	Q	-	3	2	CDC42EP3	37726530	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.165000	0.31822	2.793000	0.96121	0.655000	0.94253	CAG		0.463	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		A	37873026	C	A	37873026	3	1	122	1	0	0	0	0	1	0	0	0	3077	796	28	5	63	5	CDC42EP3	2	37873026	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		37873026	205326347	6	8370											
LRP1B	53353	broad.mit.edu	37	chr2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactgaccattggaacacCggaactgatctttggaacaa	14	9	8	10	1	1	2	0	2	1	0	1	5	1	5	2	3	4	0	2	3	5	3	rs145915063		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:141130669C>T	ENST00000389484.3	-	69	11647	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3559	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368										TSP Lung(27;0.18)			c|||	1	0.000199681	0	0.0014	5008	,	,		16910	0		0	False		,,,				2504	0				Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10675-10677)cGg>cAg		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	160	150	153		10676	3.2	1	2	dbSNP_134	153	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LRP1B	NM_018557.2	43	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	3559/4600	141130669	5,13001	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130669C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10676G>A	2.37:g.141130669C>T	ENSP00000374135:p.Arg3559Gln	TSP Lung(27;0.18)					p.R3559Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	68	11648	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3559			LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10676G>A	CCDS2182.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	5.199	0.222237	0.09863	6.81E-4	2.33E-4	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.50277	0.75	5.54	3.17	0.36434	.	0.163089	0.41712	N	0.000833	T	0.24509	0.0594	N	0.10945	0.07	0.24874	N	0.992266	B	0.02656	0.0	B	0.01281	0.0	T	0.18935	-1.0321	10	0.12766	T	0.61	.	9.9126	0.41415	0.0:0.1385:0.0:0.8615	.	3559	Q9NZR2	LRP1B_HUMAN	Q	3559;3497	ENSP00000374135:R3559Q	ENSP00000374135:R3559Q	R	-	2	0	LRP1B	140847139	1.000000	0.71417	0.986000	0.45419	0.621000	0.37620	2.081000	0.41596	0.401000	0.25424	-0.404000	0.06349	CGG		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141130669	C	T	141130669	3	4	122	1	0	0	0	0	1	0	0	0	8955	652	23	2	3215	2	LRP1B	2	141130669	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	103257643	141130669	102068704	7	8371											
DFNB59	494513	broad.mit.edu	37	chr2	179323290	179323290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggacaaagctattgttttCccagcacatacaaccatagc	14	9	7	11	0	0	0	0	0	0	0	1	1	1	1	2	1	5	3	2	1	5	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:179323290C>T	ENST00000409117.3	+	5	959	c.603C>T	c.(601-603)ttC>ttT	p.F201F	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Silent_p.F201F	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	201					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTATTGTTTTCCCAGCACATA	0.343																																						uc002umi.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(601-603)ttC>ttT		Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.							120	119	119					2																	179323290		1854	4105	5959	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179323290C>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.603C>T	2.37:g.179323290C>T						MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.F201F	p.F201F	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		4	959	+			201					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.603C>T	CCDS42787.1																																																																																				0.343	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			T	179323290	C	T	179323290	2	4	122	1	0	0	0	0	0	0	0	1	4456	854	30	3		3	DFNB59	2	179323290	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	38192621	179323290	63876083	8	8372											
P4HTM	54681	broad.mit.edu	37	chr3	49042445	49042445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccataccaagctggtaGccaacgagtctgtacccttc	9	9	8	15	1	1	0	0	0	1	0	3	1	2	0	4	1	5	4	4	1	5	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:49042445G>A	ENST00000383729.4	+	6	1410	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.A347T	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	347	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAAGCTGGTAGCCAACGAGTC	0.587																																						uc003cvh.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1039-1041)Gcc>Acc		Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	Vitamin C(DB00126)						148	110	123					3																	49042445		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042445G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1039G>A	3.37:g.49042445G>A	ENSP00000373235:p.Ala347Thr					P4HTM_uc003cvg.3_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.A347T	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN			5	1388	+			347			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1039G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181771	0.57800	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.77620	-1.11	5.32	3.5	0.40072	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.173906	0.50627	D	0.000101	T	0.62405	0.2425	L	0.28014	0.82	0.38375	D	0.944967	B;B	0.31435	0.323;0.17	B;B	0.30943	0.122;0.068	T	0.62959	-0.6743	10	0.31617	T	0.26	-17.1715	9.3798	0.38306	0.2051:0.0:0.7949:0.0	.	347;347	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	T	347	ENSP00000373235:A347T	ENSP00000341422:A347T	A	+	1	0	P4HTM	49017449	0.990000	0.36364	0.994000	0.49952	0.993000	0.82548	2.754000	0.47532	2.495000	0.84180	0.655000	0.94253	GCC		0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		A	49042445	G	A	49042445	3	1	122	1	0	0	0	0	1	0	0	0	11360	971	34	3	1061	3	P4HTM	3	49042445	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		49042445	148979985	9	8373											
ATR	545	broad.mit.edu	37	chr3	142281611	142281611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaataatacgagtaagaacCattaataaagtgacttcaat	19	10	6	6	1	1	2	1	1	0	1	1	3	1	2	1	0	2	2	1	0	9	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:142281611C>T	ENST00000350721.4	-	4	754	c.633G>A	c.(631-633)atG>atA	p.M211I	ATR_ENST00000383101.3_Missense_Mutation_p.M211I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	211			M -> T (in dbSNP:rs2227928).		cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAGTAAGAACCATTAATAAAG	0.318								Other conserved DNA damage response genes																														uc003eux.4																			0		p.M211T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(631-633)atG>atA	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							56	57	56					3																	142281611		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281611C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.633G>A	3.37:g.142281611C>T	ENSP00000343741:p.Met211Ile						p.M211I	NM_001184	NP_001175	Q13535	ATR_HUMAN			3	755	-			211		M -> T (in dbSNP:rs2227928).			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.633G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	9.784	1.176165	0.21704	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.65916	-0.18;-0.18	5.56	-7.95	0.01148	Armadillo-type fold (1);	0.682857	0.14770	N	0.299410	T	0.35068	0.0919	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09314	-1.0680	10	0.52906	T	0.07	-1.8968	5.655	0.17637	0.1271:0.206:0.0768:0.5901	.	211	Q13535	ATR_HUMAN	I	211	ENSP00000343741:M211I;ENSP00000372581:M211I	ENSP00000343741:M211I	M	-	3	0	ATR	143764301	0.001000	0.12720	0.687000	0.30102	0.942000	0.58702	-2.382000	0.01064	-1.295000	0.02357	-0.469000	0.05056	ATG		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142281611	C	T	142281611	3	4	122	1	0	0	0	0	1	0	0	0	1204	594	21	3	7477	3	ATR	3	142281611	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	93239166	142281611	55740819	10	8374											
YEATS2	55689	broad.mit.edu	37	chr3	183525871	183525871	+	Frame_Shift_Del	DEL	G	G	-																															aggaacgtgtatgcgtccgtGgtggaggacatgatcctgaa																										TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:183525871delG	ENST00000305135.5	+	29	4260	c.4065delG	c.(4063-4065)gtgfs	p.V1356fs	YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000609871.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1356					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCGTCCGTGGTGGAGGACA	0.562																																						uc003fly.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(4063-4065)gtgfs		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.							37	39	38					3																	183525871		1950	4133	6083	SO:0001589	frameshift_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183525871delG	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.4065delG	3.37:g.183525871delG	ENSP00000306983:p.Val1356fs					AX746590_uc003fma.1_5'Flank|YEATS2_uc021xie.1_5'Flank	p.V1355fs	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		28	4260	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1355					A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Del	DEL	ENST00000305135.5	37	c.4065delG	CCDS43175.1																																																																																				0.562	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		-	183525871	G	-	183525871	7	5	122	1	0	1	0	1	0	0	0	0	17469	1335	47	0	4175	0	YEATS2	3	183525871	Frame_Shift_Del	DEL	G	TCGA-12-3653-01A-01D-1495-08	41244260	183525871	14496559	11	8375											
PCYT1A	5130	broad.mit.edu	37	chr3	195965646	195965646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggggaagtcttgccGgagaagggccatcggaaaga	12	5	17	7	2	1	2	0	0	1	2	2	5	1	4	2	6	1	0	2	6	4	1	rs372804569		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	AAGTCTTGCCGGAGAAGGGCC	0.607													G|||	1	0.000199681	0	0	5008	,	,		16657	0		0	False		,,,				2504	0.001					uc003fwg.3																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(1015-1017)tcC>tcT		Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	Choline(DB00122)	G		1,4405	2.1+/-5.4	0,1,2202	71	73	72		1017	-1.6	1	3		72	0,8600		0,0,4300	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		339/368	195965646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965646G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1017C>T	3.37:g.195965646G>A						AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Silent_p.S339S	p.S339S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	9	1190	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		339			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.1017C>T	CCDS3315.1																																																																																				0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		A	195965646	G	A	195965646	2	1	122	1	0	0	0	0	0	0	0	1	11610	1103	39	2		2	PCYT1A	3	195965646	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08	12439775	195965646	2056784	12	8376											
CDH9	1007	broad.mit.edu	37	chr5	26881547	26881547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaggcattacatcccGtctaagtttactgtcttctc	8	16	6	11	1	4	0	1	0	3	0	6	0	5	0	1	1	2	3	1	1	3	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:26881547G>A	ENST00000231021.4	-	12	2240	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	690					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTACATCCCGTCTAAGTTTA	0.408																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2068-2070)Cgg>Tgg		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							194	184	188					5																	26881547		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881547G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2068C>T	5.37:g.26881547G>A	ENSP00000231021:p.Arg690Trp					CDH9_uc011cnv.1_Missense_Mutation_p.R283W	p.R690W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2237	-			690					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2068C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812391	0.50527	.	.	ENSG00000113100	ENST00000231021	T	0.78364	-1.17	4.96	2.54	0.30619	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89649	0.6776	M	0.93283	3.4	0.46725	D	0.999179	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89704	0.3907	9	.	.	.	.	11.1651	0.48539	0.0:0.0:0.3534:0.6466	.	283;690	B4DFP0;Q9ULB4	.;CADH9_HUMAN	W	690	ENSP00000231021:R690W	.	R	-	1	2	CDH9	26917304	0.991000	0.36638	0.916000	0.36221	0.951000	0.60555	0.843000	0.27640	0.311000	0.23014	0.557000	0.71058	CGG		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26881547	G	A	26881547	3	1	122	1	0	0	0	0	1	0	0	0	3117	1144	40	1	305	1	CDH9	5	26881547	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		26881547	154033713	13	8377											
GDNF	2668	broad.mit.edu	37	chr5	37815950	37815950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgcatcgcaagagcCgctgcagtacctaaaaatca	13	7	8	13	2	2	1	2	0	0	1	3	1	2	1	2	0	5	6	2	0	5	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:37815950C>T	ENST00000326524.2	-	3	638	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	GDNF_ENST00000427982.1_Missense_Mutation_p.G164S|GDNF_ENST00000344622.4_Missense_Mutation_p.G121S|GDNF_ENST00000381826.4_Missense_Mutation_p.G138S|GDNF_ENST00000515058.1_Missense_Mutation_p.G121S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	147					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TCGCAAGAGCCGCTGCAGTAC	0.443																																						uc011cpi.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(439-441)Ggc>Agc		Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.							115	115	115					5																	37815950		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815950C>T		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.439G>A	5.37:g.37815950C>T	ENSP00000317145:p.Gly147Ser					GDNF_uc011cpd.2_Missense_Mutation_p.G95S|GDNF_uc011cpe.2_Missense_Mutation_p.G121S|GDNF_uc011cpf.2_Missense_Mutation_p.G121S|GDNF_uc011cpg.2_Missense_Mutation_p.G164S|GDNF_uc011cph.2_Missense_Mutation_p.G138S	p.G147S	NM_000514	NP_000505	P39905	GDNF_HUMAN			2	639	-	all_lung(31;0.00118)		147					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.439G>A	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601715	0.87055	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	5.76	5.76	0.90799	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.99802	1.1036	10	0.87932	D	0	-8.8999	19.9576	0.97228	0.0:1.0:0.0:0.0	.	147;138;164;121	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	S	147;121;121;164;138	ENSP00000317145:G147S;ENSP00000339703:G121S;ENSP00000425928:G121S;ENSP00000409007:G164S;ENSP00000371248:G138S	ENSP00000317145:G147S	G	-	1	0	GDNF	37851707	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	7.487000	0.81328	2.736000	0.93811	0.655000	0.94253	GGC		0.443	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		T	37815950	C	T	37815950	3	4	122	1	0	0	0	0	1	0	0	0	6322	652	23	2	199	2	GDNF	5	37815950	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10934403	37815950	143099310	14	8378											
LNPEP	4012	broad.mit.edu	37	chr5	96341853	96341853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatttcctttagtgactgTtcaaaagaaaggaaaggaac	16	10	10	5	0	1	2	1	1	0	1	2	5	2	5	1	3	1	1	1	3	6	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:96341853T>C	ENST00000231368.5	+	10	2554	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	LNPEP_ENST00000395770.3_Missense_Mutation_p.V607A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	621					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTAGTGACTGTTCAAAAGAAA	0.333																																						uc003kmv.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(1861-1863)gTt>gCt		Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.							61	65	64					5																	96341853		2203	4297	6500	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96341853T>C	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1862T>C	5.37:g.96341853T>C	ENSP00000231368:p.Val621Ala					LNPEP_uc003kmw.1_Missense_Mutation_p.V607A	p.V621A	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	9	2376	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	621					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.1862T>C	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088463	0.55968	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.11277	2.79;2.79	5.87	5.87	0.94306	.	0.105582	0.64402	D	0.000005	T	0.11024	0.0269	L	0.42008	1.315	0.54753	D	0.999989	B	0.31485	0.325	B	0.31686	0.134	T	0.05886	-1.0858	10	0.52906	T	0.07	.	10.3205	0.43762	0.0:0.0737:0.0:0.9263	.	621	Q9UIQ6	LCAP_HUMAN	A	621;607	ENSP00000231368:V621A;ENSP00000379117:V607A	ENSP00000231368:V621A	V	+	2	0	LNPEP	96367609	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.501000	0.66950	2.248000	0.74166	0.533000	0.62120	GTT		0.333	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		C	96341853	T	C	96341853	3	2	122	1	0	0	0	0	1	0	0	0	8864	1725	60	4	1900	4	LNPEP	5	96341853	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	58525903	96341853	84573407	15	8379											
F13A1	2162	broad.mit.edu	37	chr6	6196068	6196068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaaattggaagcagaCatggccgtgcttgatggctt	10	11	12	8	1	1	2	1	1	0	1	1	3	1	3	1	3	3	4	1	3	2	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:6196068C>T	ENST00000264870.3	-	10	1532	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	423					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGAAGCAGACATGGCCGTGC	0.498																																						uc003mwv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1267-1269)Gtc>Atc		Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	L-Glutamine(DB00130)						104	83	90					6																	6196068		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6196068C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1267G>A	6.37:g.6196068C>T	ENSP00000264870:p.Val423Ile					F13A1_uc011dib.2_Missense_Mutation_p.V360I	p.V423I	NM_000129	NP_000120	P00488	F13A_HUMAN			9	1390	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	423					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1267G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	7.303	0.613336	0.14066	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.51574	0.7	5.49	4.5	0.54988	.	0.311799	0.34200	N	0.004179	T	0.18215	0.0437	L	0.31371	0.925	0.25684	N	0.985769	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.002	T	0.12192	-1.0557	10	0.41790	T	0.15	.	11.9873	0.53155	0.0:0.9051:0.0:0.0949	.	360;423	F5H080;P00488	.;F13A_HUMAN	I	423;360	ENSP00000264870:V423I	ENSP00000264870:V423I	V	-	1	0	F13A1	6141067	0.962000	0.33011	0.331000	0.25455	0.002000	0.02628	2.170000	0.42443	1.178000	0.42870	0.655000	0.94253	GTC		0.498	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		T	6196068	C	T	6196068	3	4	122	1	0	0	0	0	1	0	0	0	5340	478	17	3	955	3	F13A1	6	6196068	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		6196068	164918999	16	8380											
PKHD1	5314	broad.mit.edu	37	chr6	51609339	51609339	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacttttcctaaatcttTcctgtgaagacagtcaaaaa	14	13	5	9	0	2	2	1	1	1	1	4	3	4	2	2	0	1	0	2	0	6	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:51609339T>C	ENST00000371117.3	-	60	10275	c.10000A>G	c.(10000-10002)Aaa>Gaa	p.K3334E	PKHD1_ENST00000340994.4_Splice_Site_p.K3334E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3334					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTAAATCTTTCCTGTGAAGA	0.383																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.e60-1		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							62	62	62					6																	51609339		2203	4300	6503	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51609339T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9999-1A>G	6.37:g.51609339T>C						PKHD1_uc010jzn.1_Splice_Site_p.R1316_splice|PKHD1_uc003pai.3_Splice_Site_p.R3333_splice	p.R3333_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			60	10275	-	Lung NSC(77;0.0605)		3333					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9999_splice	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.149	0.395787	0.11638	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87491	-2.04;-2.26	5.0	2.6	0.31112	.	0.405730	0.25091	N	0.033210	T	0.65575	0.2704	L	0.37561	1.115	0.26411	N	0.976266	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.60156	-0.7318	10	0.49607	T	0.09	.	7.2434	0.26109	0.0:0.2536:0.0:0.7464	.	3334;3334;3334	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	E	3334	ENSP00000360158:K3334E;ENSP00000341097:K3334E	ENSP00000341097:K3334E	K	-	1	0	PKHD1	51717298	0.190000	0.23276	1.000000	0.80357	0.173000	0.22820	0.965000	0.29319	0.873000	0.35799	0.528000	0.53228	AAA		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Missense_Mutation	C	51609339	T	C	51609339	5	2	122	1	0	0	0	0	0	0	1	0	11971	1797	62	4	2295	4	PKHD1	6	51609339	Splice_Site	SNP	T	TCGA-12-3653-01A-01D-1495-08	45413271	51609339	119505728	17	8381											
COL28A1	340267	broad.mit.edu	37	chr7	7483281	7483281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcccggaagccccgcttCtccctagagaaaatgacact	10	8	8	15	2	1	2	0	1	1	1	3	4	2	3	4	1	2	2	4	1	4	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:7483281C>T	ENST00000399429.3	-	20	1725	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	529	Collagen-like 4.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCCCCGCTTCTCCCTAGAGA	0.517																																						uc003src.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1585-1587)Gaa>Aaa		Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.							64	63	64					7																	7483281		1932	4149	6081	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7483281C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1585G>A	7.37:g.7483281C>T	ENSP00000382356:p.Glu529Lys					COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.3_Missense_Mutation_p.E84K	p.E529K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	19	1702	-		Ovarian(82;0.0789)	529			Collagen-like 4.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1585G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838331	0.71373	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93247	-3.19	4.93	4.93	0.64822	.	0.175590	0.34435	U	0.003978	D	0.94221	0.8145	L	0.41961	1.31	0.41537	D	0.988494	D;D;D	0.69078	0.996;0.993;0.997	D;D;D	0.80764	0.99;0.971;0.994	D	0.91652	0.5335	10	0.21014	T	0.42	-19.8684	13.8569	0.63534	0.0:1.0:0.0:0.0	.	529;529;529	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	K	529	ENSP00000382356:E529K	ENSP00000382347:E529K	E	-	1	0	COL28A1	7449806	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	3.569000	0.53827	2.730000	0.93505	0.655000	0.94253	GAA		0.517	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		T	7483281	C	T	7483281	3	4	122	1	0	0	0	0	1	0	0	0	3686	922	32	3	1856	3	COL28A1	7	7483281	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		7483281	151655382	18	8382											
GRM3	2913	broad.mit.edu	37	chr7	86415877	86415877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacatccgcaagtcctacGacagcgtgatccgagaactg	12	6	9	14	4	0	2	0	1	0	1	3	4	3	2	4	0	4	1	4	0	4	1	rs571579021		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:86415877G>A	ENST00000361669.2	+	3	1868	c.769G>A	c.(769-771)Gac>Aac	p.D257N	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D255N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.D129N|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.D257N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	257					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.D257H(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAAGTCCTACGACAGCGTGAT	0.647													G|||	1	0.000199681	0	0	5008	,	,		18791	0		0.001	False		,,,				2504	0				GBM(52;969 1098 3139 52280)	uc003uid.3																			1	Substitution - Missense(1)	p.D257H(2)|p.Y256Y(1)	lung(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(769-771)Gac>Aac		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						48	51	50					7																	86415877		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415877G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.769G>A	7.37:g.86415877G>A	ENSP00000355316:p.Asp257Asn					GRM3_uc010lef.3_Missense_Mutation_p.D255N|GRM3_uc010leg.3_Missense_Mutation_p.D129N|GRM3_uc010leh.3_Intron	p.D257N	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1868	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		257					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.769G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093384	0.94149	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.043778	0.85682	D	0.000000	D	0.89143	0.6631	M	0.70842	2.15	0.80722	D	1	P;D;P	0.55385	0.91;0.971;0.926	P;P;P	0.55577	0.671;0.49;0.779	D	0.88959	0.3392	10	0.62326	D	0.03	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	129;257;257	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	N	257;129;129;257;255	ENSP00000355316:D257N;ENSP00000405427:D129N;ENSP00000441407:D129N;ENSP00000398767:D257N;ENSP00000378209:D255N	ENSP00000355316:D257N	D	+	1	0	GRM3	86253813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.885000	0.99019	0.655000	0.94253	GAC		0.647	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86415877	G	A	86415877	3	1	122	1	0	0	0	0	1	0	0	0	6798	1058	37	2	775	2	GRM3	7	86415877	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	78932596	86415877	72722786	19	8383											
ABCB1	5243	broad.mit.edu	37	chr7	87179839	87179839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catttctgaattccaaatttCccttaatattatctggtttg	10	19	4	8	0	2	1	0	1	2	0	4	1	4	1	2	1	0	1	2	1	5	7			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:87179839C>G	ENST00000265724.3	-	12	1586	c.1169G>C	c.(1168-1170)gGa>gCa	p.G390A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G326A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	390					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCCAAATTTCCCTTAATATT	0.313																																						uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1168-1170)gGa>gCa		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						101	97	98					7																	87179839		2203	4298	6501	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179839C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1169G>C	7.37:g.87179839C>G	ENSP00000265724:p.Gly390Ala					ABCB1_uc011khc.2_Missense_Mutation_p.G326A	p.G390A	NM_000927	NP_000918	P08183	MDR1_HUMAN			11	1662	-	Esophageal squamous(14;0.00164)		390					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1169G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010712	0.93346	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91237	-2.81;-2.81	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.97110	0.622;1.0	D	0.95172	0.8291	10	0.87932	D	0	-22.3806	20.4496	0.99125	0.0:1.0:0.0:0.0	.	326;390	B5AK60;P08183	.;MDR1_HUMAN	A	171;390;326	ENSP00000265724:G390A;ENSP00000444095:G326A	ENSP00000265724:G390A	G	-	2	0	ABCB1	87017775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.047000	0.71038	2.838000	0.97847	0.563000	0.77884	GGA		0.313	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		G	87179839	C	G	87179839	3	3	122	1	0	0	0	0	1	0	0	0	40	855	30	5	2745	5	ABCB1	7	87179839	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	763962	87179839	71958824	20	8384											
NPTX2	4885	broad.mit.edu	37	chr7	98256632	98256632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatcaagcccgggggCgtgctgatccttggacaaga	9	6	12	14	2	1	2	1	1	0	1	2	3	2	3	4	3	2	1	4	3	2	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:98256632C>T	ENST00000265634.3	+	4	1209	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	348	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1042-1044)ggC>ggT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							54	45	48					7																	98256632		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256632C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1044C>T	7.37:g.98256632C>T							p.G348G	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1221	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		348			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1044C>T	CCDS5657.1																																																																																				0.677	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98256632	C	T	98256632	2	4	122	1	0	0	0	0	0	0	0	1	10603	755	27	1		1	NPTX2	7	98256632	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	11076793	98256632	60882031	21	8385											
FOXP2	93986	broad.mit.edu	37	chr7	114282648	114282648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccatagtgaatggacAgtcttcagttctaagtgcaa	12	13	8	8	0	4	1	2	1	2	0	5	2	5	2	1	1	1	2	1	1	4	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:114282648A>G	ENST00000393494.2	+	7	1238	c.959A>G	c.(958-960)cAg>cGg	p.Q320R	FOXP2_ENST00000390668.3_Missense_Mutation_p.Q344R|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q228R|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q345R|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q320R|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q299R|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q228R|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q320R|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q337R|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q320R|FOXP2_ENST00000393500.3_Missense_Mutation_p.Q245R			O15409	FOXP2_HUMAN	forkhead box P2	320					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTGAATGGACAGTCTTCAGTT	0.388																																						uc003vhb.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(958-960)cAg>cGg		Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.							183	156	165					7																	114282648		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282648A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.959A>G	7.37:g.114282648A>G	ENSP00000377132:p.Gln320Arg					FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.Q345R|FOXP2_uc003vha.3_Missense_Mutation_p.Q228R|FOXP2_uc011kmv.2_Missense_Mutation_p.Q319R|FOXP2_uc011kmu.2_Missense_Mutation_p.Q337R|FOXP2_uc010ljz.2_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.3_Missense_Mutation_p.Q345R|FOXP2_uc003vhd.3_Missense_Mutation_p.Q320R	p.Q320R	NM_014491	NP_055306	O15409	FOXP2_HUMAN			6	1333	+			320					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.959A>G	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732695	0.69189	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.21031	2.07;2.07;2.07;2.07;2.07;2.03;2.07;2.07;2.07;2.07	5.02	5.02	0.67125	.	0.108672	0.64402	D	0.000003	T	0.40932	0.1137	L	0.59436	1.845	0.58432	D	0.999999	P;P;P;P;P;P;P	0.48294	0.851;0.851;0.659;0.769;0.908;0.851;0.908	P;P;P;P;P;P;P	0.61397	0.775;0.775;0.775;0.888;0.888;0.775;0.888	T	0.24119	-1.0169	10	0.66056	D	0.02	.	15.0341	0.71731	1.0:0.0:0.0:0.0	.	319;337;228;320;344;320;345	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	R	245;320;345;337;320;297;320;228;320;344;228	ENSP00000377137:Q245R;ENSP00000377132:Q320R;ENSP00000386200:Q345R;ENSP00000385069:Q337R;ENSP00000265436:Q320R;ENSP00000367482:Q320R;ENSP00000377129:Q228R;ENSP00000353367:Q320R;ENSP00000375084:Q344R;ENSP00000377130:Q228R	ENSP00000265436:Q320R	Q	+	2	0	FOXP2	114069884	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.905000	0.92613	2.012000	0.59069	0.377000	0.23210	CAG		0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		G	114282648	A	G	114282648	3	3	122	1	0	0	0	0	1	0	0	0	6027	188	7	4	1115	4	FOXP2	7	114282648	Missense_Mutation	SNP	A	TCGA-12-3653-01A-01D-1495-08	16026016	114282648	44856015	22	8386											
PLXNA4	91584	broad.mit.edu	37	chr7	131887591	131887591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggctccacacttgtagagGtgaactgcagaggggaaggg	11	7	16	7	0	0	3	0	1	0	2	1	4	1	4	1	5	2	3	1	5	3	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:131887591G>T	ENST00000359827.3	-	12	3362	c.2400C>A	c.(2398-2400)caC>caA	p.H800Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H800Q			Q9HCM2	PLXA4_HUMAN	plexin A4	800					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTTGTAGAGGTGAACTGCAG	0.632																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2398-2400)caC>caA		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							16	17	17					7																	131887591		2146	4273	6419	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131887591G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2400C>A	7.37:g.131887591G>T	ENSP00000352882:p.His800Gln						p.H800Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			11	2629	-			800					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2400C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852075	0.51270	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.64618	-0.11;-0.11	4.41	0.574	0.17368	.	0.099768	0.36778	N	0.002414	T	0.53899	0.1825	M	0.82517	2.595	0.43745	D	0.99624	P	0.38582	0.638	B	0.31614	0.133	T	0.53019	-0.8497	10	0.12766	T	0.61	.	9.663	0.39967	0.4521:0.0:0.5479:0.0	.	800	Q9HCM2	PLXA4_HUMAN	Q	800	ENSP00000323194:H800Q;ENSP00000352882:H800Q	ENSP00000323194:H800Q	H	-	3	2	PLXNA4	131538131	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	1.862000	0.39448	0.235000	0.21160	0.561000	0.74099	CAC		0.632	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131887591	G	T	131887591	3	4	122	1	0	0	0	0	1	0	0	0	12122	1252	44	5	3368	5	PLXNA4	7	131887591	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	17604943	131887591	27251072	23	8387											
TRPV6	55503	broad.mit.edu	37	chr7	142573429	142573429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctggtccaggatctggCgagcctgcaacagaaagaga	11	6	14	10	2	2	2	0	0	2	2	3	5	3	3	2	3	3	1	2	3	2	0			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:142573429C>T	ENST00000359396.3	-	8	1159	c.914G>A	c.(913-915)cGc>cAc	p.R305H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	305					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGATCTGGCGAGCCTGCAA	0.607																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(913-915)cGc>cAc		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							64	67	66					7																	142573429		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573429C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.914G>A	7.37:g.142573429C>T	ENSP00000352358:p.Arg305His					TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H	p.R305H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			7	1143	-	Melanoma(164;0.059)		305					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.914G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946850	0.53186	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.52057	0.68	4.71	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	M	0.65498	2.005	0.80722	D	1	P	0.34757	0.467	B	0.21546	0.035	T	0.28170	-1.0052	10	0.25106	T	0.35	-19.5158	11.8416	0.52357	0.0:0.9162:0.0:0.0838	.	305	Q9H1D0	TRPV6_HUMAN	H	305;137	ENSP00000352358:R305H	ENSP00000310825:R137H	R	-	2	0	TRPV6	142283551	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.798000	0.62510	1.222000	0.43521	0.655000	0.94253	CGC		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		T	142573429	C	T	142573429	3	4	122	1	0	0	0	0	1	0	0	0	16597	768	27	1	1295	1	TRPV6	7	142573429	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10685838	142573429	16565234	24	8388											
ZYX	7791	broad.mit.edu	37	chr7	143080299	143080299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcaccccgaagctcttTctgctggcacaggctcccct	5	9	11	16	1	2	0	0	0	2	0	3	1	3	0	4	4	2	5	4	4	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:143080299T>C	ENST00000322764.5	+	5	1252	c.907T>C	c.(907-909)Tct>Cct	p.S303P	ZYX_ENST00000392910.2_Missense_Mutation_p.S146P|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000449423.2_Missense_Mutation_p.S216P	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	303					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGAAGCTCTTTCTGCTGGCAC	0.597																																						uc003wcx.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(907-909)Tct>Cct		Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.							58	68	65					7																	143080299		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143080299T>C	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.907T>C	7.37:g.143080299T>C	ENSP00000324422:p.Ser303Pro					ZYX_uc011ktd.2_Missense_Mutation_p.S146P|ZYX_uc003wcw.3_Missense_Mutation_p.S303P|ZYX_uc011kte.2_Missense_Mutation_p.S272P|ZYX_uc011ktf.2_Missense_Mutation_p.S146P	p.S303P	NM_003461	NP_003452	Q15942	ZYX_HUMAN			4	1065	+	Melanoma(164;0.205)		303					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.907T>C	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	T	1.811	-0.474725	0.04414	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.54675	0.68;0.56;0.56;0.58	4.12	-1.74	0.08056	.	1.837240	0.03455	U	0.211278	T	0.52725	0.1752	L	0.46741	1.465	0.09310	N	1	B;D	0.65815	0.396;0.995	B;P	0.57911	0.099;0.829	T	0.46843	-0.9162	10	0.18710	T	0.47	.	1.0519	0.01582	0.1675:0.2769:0.3338:0.2219	.	216;303	B4DQR8;Q15942	.;ZYX_HUMAN	P	303;271;216;146	ENSP00000324422:S303P;ENSP00000346417:S271P;ENSP00000394158:S216P;ENSP00000376642:S146P	ENSP00000324422:S303P	S	+	1	0	ZYX	142790421	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.817000	0.04472	0.024000	0.15214	0.460000	0.39030	TCT		0.597	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		C	143080299	T	C	143080299	3	2	122	1	0	0	0	0	1	0	0	0	18251	1783	62	4	921	4	ZYX	7	143080299	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	506870	143080299	16058364	25	8389											
ZFAT	57623	broad.mit.edu	37	chr8	135612748	135612748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtagtcacagccatcGgtgggacacttcagcaagat	11	9	12	9	1	2	2	2	1	0	1	3	3	2	3	1	2	2	3	1	2	2	3	rs144002982	byFrequency	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr8:135612748G>A	ENST00000377838.3	-	7	2580	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_ENST00000520356.1_Silent_p.T790T|ZFAT_ENST00000520727.1_Silent_p.T790T|ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Silent_p.T790T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	802					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448													G|||	2	0.000399361	8e-04	0	5008	,	,		16996	0		0	False		,,,				2504	0.001					uc003yup.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2404-2406)acC>acT		Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.							181	178	179					8																	135612748		1965	4152	6117	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612748G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2406C>T	8.37:g.135612748G>A						ZFAT_uc003yun.3_Silent_p.T790T|ZFAT_uc003yuo.3_Silent_p.T790T|ZFAT_uc010meh.3_Silent_p.T790T|ZFAT_uc010mej.3_Silent_p.T740T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.T790T|ZFAT_uc003yur.3_Silent_p.T790T|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	p.T802T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	2592	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		802					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.2406C>T	CCDS47924.1																																																																																				0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135612748	G	A	135612748	2	1	122	1	0	0	0	0	0	0	0	1	17629	1103	39	2		2	ZFAT	8	135612748	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08		135612748	10751274	26	8390											
C9orf102	375748	broad.mit.edu	37	chr9	98683552	98683552	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttcaatcttctgagccTtgtacctgtaggagtggcca	9	13	9	10	0	3	1	1	1	2	0	3	2	3	2	3	2	3	2	3	2	4	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr9:98683552T>G	ENST00000288985.7	+	7	1592	c.1287T>G	c.(1285-1287)ccT>ccG	p.P429P	ERCC6L2_ENST00000437817.1_Silent_p.P240P|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	429					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CTTCTGAGCCTTGTACCTGTA	0.363																																						uc010mry.1																			0											c.(391-393)ccT>ccG		Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.							108	110	109					9																	98683552		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98683552T>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1287T>G	9.37:g.98683552T>G						ERCC6L2_uc010mrx.1_Non-coding_Transcript|ERCC6L2_uc004avt.4_Silent_p.P429P|ERCC6L2_uc011lum.2_Silent_p.P131P|ERCC6L2_uc010mrz.3_Silent_p.P240P|ERCC6L2_uc004avu.3_5'Flank	p.P131P			Q5T890	RAD26_HUMAN			5	1481	+			429					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.393T>G	CCDS35072.1																																																																																				0.363	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		G	98683552	T	G	98683552	2	3	122	1	0	0	0	0	0	0	0	1	2445	1596	56	5		5	C9orf102	9	98683552	Silent	SNP	T	TCGA-12-3653-01A-01D-1495-08		98683552	42529879	27	8391											
KIF20B	9585	broad.mit.edu	37	chr10	91498196	91498196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcttaaagctagaaagaAatttgaaggaatttcaagaa	19	11	7	4	0	3	4	2	1	1	3	3	5	3	5	0	1	1	1	0	1	9	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:91498196A>G	ENST00000371728.3	+	20	3663	c.3598A>G	c.(3598-3600)Aat>Gat	p.N1200D	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.N1230D|KIF20B_ENST00000394289.2_Missense_Mutation_p.N1200D|KIF20B_ENST00000260753.4_Missense_Mutation_p.N1160D	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1200					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTAGAAAGAAATTTGAAGGA	0.318																																						uc001kgs.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3598-3600)Aat>Gat		Homo sapiens kinesin family member 20B (KIF20B), mRNA.							51	56	54					10																	91498196		2199	4294	6493	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498196A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3598A>G	10.37:g.91498196A>G	ENSP00000360793:p.Asn1200Asp					KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_Non-coding_Transcript	p.N1200D	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			19	3670	+			1200					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3598A>G		.	.	.	.	.	.	.	.	.	.	A	8.970	0.972640	0.18736	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.69175	-0.29;-0.3;-0.38;-0.31	5.82	3.36	0.38483	.	0.494492	0.18603	N	0.136395	T	0.57917	0.2086	M	0.62723	1.935	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.12156	0.005;0.007	T	0.46048	-0.9219	10	0.27082	T	0.32	-9.7986	6.1432	0.20271	0.6782:0.1326:0.1892:0.0	.	1200;1160	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	D	1160;1230;1200;1200	ENSP00000260753:N1160D;ENSP00000411545:N1230D;ENSP00000377830:N1200D;ENSP00000360793:N1200D	ENSP00000260753:N1160D	N	+	1	0	KIF20B	91488176	0.021000	0.18746	0.007000	0.13788	0.135000	0.20990	1.411000	0.34702	1.025000	0.39708	0.383000	0.25322	AAT		0.318	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91498196	A	G	91498196	3	3	122	1	0	0	0	0	1	0	0	0	8287	14	1	4	3552	4	KIF20B	10	91498196	Missense_Mutation	SNP	A	TCGA-12-3653-01A-01D-1495-08		91498196	44036551	28	8392											
ZNF518A	9849	broad.mit.edu	37	chr10	97916083	97916083	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttttttggttaaatcatgCcatctgaacagaaacagtta	14	14	6	7	0	2	2	1	1	1	1	2	2	2	2	1	1	3	2	1	1	5	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:97916083C>T	ENST00000534948.1	+	0	861							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTAAATCATGCCATCTGAACA	0.308																																						uc001klp.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24						c.(4-6)Cca>Tca		Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.							52	55	54					10																	97916083		1788	4056	5844			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916083C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916083C>T						ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P2S|ZNF518A_uc001klr.3_Missense_Mutation_p.P2S	p.P2S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	5	861	+		Colorectal(252;0.0815)	2					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.4C>T																																																																																					0.308	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		T	97916083	C	T	97916083	1	4	122	0	1	0	0	0	0	0	0	0	17959	739	26	3		3	ZNF518A	10	97916083	RNA	SNP	C	TCGA-12-3653-01A-01D-1495-08	6417887	97916083	37618664	29	8393											
HEPHL1	341208	broad.mit.edu	37	chr11	93826783	93826783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaaagcccgaccaccacGagaggagcacttagaactcc	14	4	9	14	2	1	2	1	0	0	2	2	6	2	3	4	1	3	1	4	1	3	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:93826783G>A	ENST00000315765.9	+	13	2419	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	804	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGACCACCACGAGAGGAGCAC	0.483																																						uc001pep.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2410-2412)cGa>cAa		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.							112	109	110					11																	93826783		1947	4150	6097	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93826783G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2411G>A	11.37:g.93826783G>A	ENSP00000313699:p.Arg804Gln					AF086184_uc001pen.1_Intron	p.R804Q	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			12	2568	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	804			Plastocyanin-like 5.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2411G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149052	0.37923	.	.	ENSG00000181333	ENST00000315765	D	0.98914	-5.23	5.68	2.8	0.32819	Cupredoxin (2);	0.452533	0.25347	N	0.031321	D	0.94601	0.8260	N	0.21617	0.685	0.20074	N	0.999933	B	0.13145	0.007	B	0.06405	0.002	D	0.86715	0.1938	10	0.19590	T	0.45	.	7.5294	0.27674	0.471:0.0:0.529:0.0	.	804	Q6MZM0	HPHL1_HUMAN	Q	804	ENSP00000313699:R804Q	ENSP00000313699:R804Q	R	+	2	0	HEPHL1	93466431	0.000000	0.05858	0.691000	0.30163	0.958000	0.62258	0.362000	0.20284	0.338000	0.23692	0.549000	0.68633	CGA		0.483	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93826783	G	A	93826783	3	1	122	1	0	0	0	0	1	0	0	0	7055	1058	37	2	2461	2	HEPHL1	11	93826783	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		93826783	41179733	30	8394											
PGR	5241	broad.mit.edu	37	chr11	100920711	100920711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaactcttcttggctaaCttgaagcttgacaaactcct	11	12	8	10	0	2	2	0	2	2	0	3	4	3	3	1	2	4	2	1	2	4	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:100920711C>A	ENST00000325455.5	-	6	3890	c.2437G>T	c.(2437-2439)Gtt>Ttt	p.V813F	PGR_ENST00000534013.1_Missense_Mutation_p.V219F|PGR_ENST00000263463.5_Missense_Mutation_p.V711F	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	813	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTTGGCTAACTTGAAGCTTG	0.368																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2437-2439)Gtt>Ttt		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						97	91	93					11																	100920711		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100920711C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2437G>T	11.37:g.100920711C>A	ENSP00000325120:p.Val813Phe					PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	p.V813F	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3180	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	813			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2437G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921177	0.52653	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.99812	1.19;1.19;-6.88	5.16	2.25	0.28309	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.202566	0.41938	D	0.000794	D	0.99227	0.9731	M	0.64404	1.975	0.49051	D	0.999742	P;D;P	0.52996	0.947;0.957;0.463	P;P;B	0.49451	0.597;0.611;0.158	D	0.97965	1.0340	10	0.87932	D	0	.	8.4736	0.32999	0.0:0.7326:0.1273:0.1401	.	711;813;194	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	F	813;219;711	ENSP00000325120:V813F;ENSP00000436561:V219F;ENSP00000263463:V711F	ENSP00000263463:V711F	V	-	1	0	PGR	100425921	1.000000	0.71417	0.909000	0.35828	0.989000	0.77384	3.941000	0.56607	0.286000	0.22352	0.655000	0.94253	GTT		0.368	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			A	100920711	C	A	100920711	3	1	122	1	0	0	0	0	1	0	0	0	11805	565	20	5	376	5	PGR	11	100920711	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	7093928	100920711	34085805	31	8395											
NTF3	4908	broad.mit.edu	37	chr12	5603770	5603770	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggcagccccgtggtggcGaacagaacatcacggcggaa	10	4	16	11	4	1	1	1	0	0	1	1	3	1	2	2	5	3	1	2	5	3	0			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:5603770G>A	ENST00000331010.6	+	1	473	c.390G>A	c.(388-390)gcG>gcA	p.A130A	NTF3_ENST00000423158.3_Silent_p.A143A|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	130					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCGTGGTGGCGAACAGAACAT	0.602																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(388-390)gcG>gcA		Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.							83	79	80					12																	5603770		2203	4300	6503	SO:0001819	synonymous_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603770G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.390G>A	12.37:g.5603770G>A						NTF3_uc001qnk.4_Silent_p.A143A	p.A130A	NM_002527	NP_002518	P20783	NTF3_HUMAN			0	473	+			130					B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	c.390G>A	CCDS8538.1																																																																																				0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			A	5603770	G	A	5603770	2	1	122	1	0	0	0	0	0	0	0	1	10696	1045	37	2		2	NTF3	12	5603770	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08		5603770	128248125	32	8396											
C1S	716	broad.mit.edu	37	chr12	7177641	7177641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctgttcgcctcaaggcgGcaaggttacctgtagctcct	6	11	12	12	2	1	0	1	0	0	0	3	0	2	0	3	3	3	6	3	3	4	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:7177641G>A	ENST00000406697.1	+	15	2381	c.1753G>A	c.(1753-1755)Gca>Aca	p.A585T	C1S_ENST00000360817.5_Missense_Mutation_p.A585T|C1S_ENST00000402681.3_Missense_Mutation_p.A418T|C1S_ENST00000328916.3_Missense_Mutation_p.A585T			P09871	C1S_HUMAN	complement component 1, s subcomponent	585	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CCTCAAGGCGGCAAGGTTACC	0.512																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1753-1755)Gca>Aca		Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						70	69	70					12																	7177641		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177641G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1753G>A	12.37:g.7177641G>A	ENSP00000385035:p.Ala585Thr					C1S_uc001qsk.3_Missense_Mutation_p.A585T|C1S_uc001qsl.3_Missense_Mutation_p.A585T|C1S_uc009zfr.3_Missense_Mutation_p.A418T|C1S_uc009zfs.3_Non-coding_Transcript	p.A585T	NM_201442	NP_958850	P09871	C1S_HUMAN			14	2472	+			585			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1753G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413703	0.83449	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.01	4.1	0.47936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42420	D	0.000716	T	0.77598	0.4154	N	0.21508	0.67	0.47441	D	0.999428	P	0.52577	0.954	P	0.60173	0.87	T	0.78991	-0.1985	10	0.52906	T	0.07	.	13.9749	0.64265	0.0746:0.0:0.9254:0.0	.	585	P09871	C1S_HUMAN	T	585;585;585;579;418	ENSP00000385035:A585T;ENSP00000328173:A585T;ENSP00000354057:A585T;ENSP00000384171:A418T	ENSP00000328173:A585T	A	+	1	0	C1S	7047902	1.000000	0.71417	0.135000	0.22099	0.049000	0.14656	6.912000	0.75753	2.596000	0.87737	0.561000	0.74099	GCA		0.512	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		A	7177641	G	A	7177641	3	1	122	1	0	0	0	0	1	0	0	0	1974	1203	42	3	1795	3	C1S	12	7177641	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	1573871	7177641	126674254	33	8397											
SPPL2A	84888	broad.mit.edu	37	chr15	51041869	51041869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggaagagctgtccaataAgggttataaagcatgcagta	14	10	11	6	0	0	1	0	0	0	1	1	2	1	2	1	2	3	5	1	2	7	5	rs536055633		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr15:51041869A>G	ENST00000261854.5	-	2	415	c.141T>C	c.(139-141)ccT>ccC	p.P47P	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	47					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGTCCAATAAGGGTTATAAA	0.418													A|||	1	0.000199681	8e-04	0	5008	,	,		20865	0		0	False		,,,				2504	0				Melanoma(50;790 1209 4069 22965 33125)	uc001zyv.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(139-141)ccT>ccC		Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.							151	146	148					15																	51041869		2196	4294	6490	SO:0001819	synonymous_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51041869A>G		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.141T>C	15.37:g.51041869A>G							p.P47P	NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	1	321	-			47					B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	c.141T>C	CCDS10138.1																																																																																				0.418	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		G	51041869	A	G	51041869	2	3	122	1	0	0	0	0	0	0	0	1	15087	59	3	4		4	SPPL2A	15	51041869	Silent	SNP	A	TCGA-12-3653-01A-01D-1495-08		51041869	51489523	34	8398											
ACAP1	9744	broad.mit.edu	37	chr17	7250193	7250193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtgctgtgcagagcagCattgcttctgccttcagtca	7	12	11	11	0	4	1	3	0	1	1	4	1	4	1	1	0	6	5	1	0	0	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:7250193C>A	ENST00000158762.3	+	13	1280	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	358	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCAGAGCAGCATTGCTTCTG	0.637																																						uc002ggd.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1072-1074)agC>agA		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.							84	80	82					17																	7250193		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250193C>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1074C>A	17.37:g.7250193C>A	ENSP00000158762:p.Ser358Arg						p.S358R	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			12	1280	+			358			PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1074C>A	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266624	0.80358	.	.	ENSG00000072818	ENST00000158762	T	0.76186	-1.0	4.6	4.6	0.57074	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.212831	0.53938	D	0.000058	T	0.82135	0.4971	M	0.86178	2.8	0.80722	D	1	P	0.35107	0.484	P	0.44623	0.455	D	0.84756	0.0759	10	0.62326	D	0.03	.	14.9371	0.70964	0.0:1.0:0.0:0.0	.	358	Q15027	ACAP1_HUMAN	R	358	ENSP00000158762:S358R	ENSP00000158762:S358R	S	+	3	2	ACAP1	7190917	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.459000	0.66685	2.394000	0.81467	0.448000	0.29417	AGC		0.637	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		A	7250193	C	A	7250193	3	1	122	1	0	0	0	0	1	0	0	0	118	709	25	5	1124	5	ACAP1	17	7250193	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		7250193	73945017	35	8399											
TNS4	84951	broad.mit.edu	37	chr17	38635988	38635988	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtggaccacggtgggCgtggggaggatgtccctctc	6	9	17	9	2	1	1	0	1	1	0	3	4	2	4	2	6	0	0	2	6	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:38635988C>T	ENST00000254051.6	-	10	2006	c.1848G>A	c.(1846-1848)acG>acA	p.T616T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	616	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCACGGTGGGCGTGGGGAGGA	0.617																																						uc010cxb.3																			0		p.P615S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1846-1848)acG>acA		Homo sapiens tensin 4 (TNS4), mRNA.							129	94	106					17																	38635988		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38635988C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1848G>A	17.37:g.38635988C>T						TNS4_uc002huu.4_Intron	p.T616T	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		9	2012	-		Breast(137;0.000496)	616			Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1848G>A	CCDS11368.1																																																																																				0.617	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38635988	C	T	38635988	2	4	122	1	0	0	0	0	0	0	0	1	16342	755	27	1		1	TNS4	17	38635988	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	31385795	38635988	42559222	36	8400											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274446	39274446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacacagcagctggggCgacagtaggtggtcctgcag	9	6	16	10	1	0	0	0	0	0	0	1	2	1	1	1	5	3	4	1	5	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:39274446C>T	ENST00000391413.2	-	1	160	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	41	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGTAGGT	0.667																																						uc002hvz.3																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(121-123)cGc>cAc		Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.							19	22	21					17																	39274446		691	1591	2282	SO:0001583	missense	653240					keratin filament		g.chr17:39274446C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.122G>A	17.37:g.39274446C>T	ENSP00000375232:p.Arg41His						p.R41H	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	161	-		Breast(137;0.000496)	41			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.122G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	12.23	1.874625	0.33069	.	.	ENSG00000212721	ENST00000391413	T	0.01495	4.83	3.8	-5.77	0.02369	.	1.617350	0.04704	U	0.416336	T	0.03348	0.0097	M	0.85041	2.73	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.47837	-0.9086	10	0.46703	T	0.11	.	5.2821	0.15680	0.6068:0.2018:0.0:0.1915	.	41	Q9BYQ6	KR411_HUMAN	H	41	ENSP00000375232:R41H	ENSP00000375232:R41H	R	-	2	0	KRTAP4-11	36527972	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-0.653000	0.05360	-0.527000	0.06374	-0.192000	0.12808	CGC		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274446	C	T	39274446	3	4	122	1	0	0	0	0	1	0	0	0	8549	768	27	1	469	1	KRTAP4-11	17	39274446	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	638458	39274446	41920764	37	8401											
ARL4D	379	broad.mit.edu	37	chr17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccacttgactgagatggCgcccactgcctcctccttct	7	10	8	16	1	1	2	0	2	1	1	3	4	3	2	5	1	2	0	5	1	1	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	9					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572																																						uc002idt.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(25-27)gCg>gTg		Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.							70	68	68					17																	41477126		2203	4300	6503	SO:0001583	missense	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477126C>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.26C>T	17.37:g.41477126C>T	ENSP00000322628:p.Ala9Val					ARL4D_uc021txy.1_Missense_Mutation_p.A9V	p.A9V	NM_001661	NP_001652	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	1	207	+		Breast(137;0.00908)	9					B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	c.26C>T	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892269	0.52014	.	.	ENSG00000175906	ENST00000320033	T	0.75367	-0.93	4.82	4.82	0.62117	.	0.137736	0.48286	D	0.000187	T	0.62684	0.2448	L	0.52266	1.64	0.58432	D	0.999994	P	0.47253	0.892	B	0.29663	0.105	T	0.67546	-0.5643	10	0.35671	T	0.21	-10.645	15.2659	0.73660	0.0:1.0:0.0:0.0	.	9	P49703	ARL4D_HUMAN	V	9	ENSP00000322628:A9V	ENSP00000322628:A9V	A	+	2	0	ARL4D	38832652	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.008000	0.63991	2.643000	0.89663	0.563000	0.77884	GCG		0.572	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		T	41477126	C	T	41477126	3	4	122	1	0	0	0	0	1	0	0	0	938	768	27	1	28	1	ARL4D	17	41477126	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	2202680	41477126	39718084	38	8402											
TUBB4	10382	broad.mit.edu	37	chr19	6495656	6495656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtgagctcgggcaccGtcagggcccggtactgctgg	4	7	18	12	3	1	1	1	1	0	0	2	1	1	1	2	5	3	5	2	5	1	1	rs552079378		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:6495656G>A	ENST00000264071.2	-	4	1225	c.854C>T	c.(853-855)aCg>aTg	p.T285M	TUBB4A_ENST00000540257.1_Missense_Mutation_p.T285M|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	285					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CTCGGGCACCGTCAGGGCCCG	0.672																																						uc002mfg.1																			0											c.(853-855)aCg>aTg		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							46	47	47					19																	6495656		2203	4298	6501	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495656G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.854C>T	19.37:g.6495656G>A	ENSP00000264071:p.Thr285Met					TUBB4A_uc002mff.1_Missense_Mutation_p.T213M|JA429441_uc021unq.1_5'Flank	p.T285M	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	961	-			285					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.854C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230769	0.22542	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.86030	-2.06;-2.06	3.71	3.71	0.42584	.	0.075274	0.49305	D	0.000159	D	0.93135	0.7814	M	0.93016	3.37	0.48452	D	0.999651	D	0.71674	0.998	D	0.64776	0.929	D	0.94831	0.7996	10	0.87932	D	0	.	14.2842	0.66235	0.0:0.0:1.0:0.0	.	285	P04350	TBB4A_HUMAN	M	285;285;203	ENSP00000264071:T285M;ENSP00000443590:T285M	ENSP00000264071:T285M	T	-	2	0	TUBB4	6446656	1.000000	0.71417	0.704000	0.30370	0.032000	0.12392	7.723000	0.84788	1.639000	0.50556	0.485000	0.47835	ACG		0.672	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495656	G	A	6495656	3	1	122	1	0	0	0	0	1	0	0	0	16755	1145	40	1	484	1	TUBB4	19	6495656	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		6495656	52633327	39	8403											
VAV1	7409	broad.mit.edu	37	chr19	6843162	6843162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggccctcctcaggaccTgtctgttcatctctggtgag	5	13	11	12	0	4	1	2	1	2	0	6	2	5	2	3	3	0	1	3	3	1	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:6843162T>C	ENST00000602142.1	+	22	2079	c.1997T>C	c.(1996-1998)cTg>cCg	p.L666P	VAV1_ENST00000596764.1_Missense_Mutation_p.L634P|VAV1_ENST00000539284.1_Missense_Mutation_p.L569P|VAV1_ENST00000304076.2_Missense_Mutation_p.L644P|VAV1_ENST00000599806.1_Missense_Mutation_p.L611P	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	666					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTCAGGACCTGTCTGTTCAT	0.488																																						uc002mfu.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1996-1998)cTg>cCg		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							223	218	220					19																	6843162		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6843162T>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1997T>C	19.37:g.6843162T>C	ENSP00000472929:p.Leu666Pro					VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P	p.L666P	NM_005428	NP_005419	P15498	VAV_HUMAN			21	2094	+			666					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1997T>C	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200638	0.58126	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.70164	-0.46	4.16	4.16	0.48862	Src homology-3 domain (1);SH2 motif (1);	0.086319	0.46145	D	0.000303	T	0.76090	0.3939	L	0.58969	1.84	0.80722	D	1	D;D;B;D	0.64830	0.994;0.992;0.397;0.976	D;D;B;P	0.69479	0.964;0.942;0.366;0.905	T	0.77822	-0.2445	10	0.66056	D	0.02	.	11.1389	0.48392	0.0:0.0:0.0:1.0	.	569;666;611;666	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	P	666;569	ENSP00000443242:L569P	ENSP00000302269:L666P	L	+	2	0	VAV1	6794162	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.947000	0.63583	1.512000	0.48834	0.496000	0.49642	CTG		0.488	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			C	6843162	T	C	6843162	3	2	122	1	0	0	0	0	1	0	0	0	17128	1580	55	4	2083	4	VAV1	19	6843162	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	347506	6843162	52285821	40	8404											
ZNF701	55762	broad.mit.edu	37	chr19	53086225	53086228	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															acaagtgtaatgaatgtggcAaggtttttaatcaacaatca																										TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:53086225_53086228delAAGG	ENST00000540331.1	+	5	1336_1339	c.1111_1114delAAGG	c.(1111-1116)aaggttfs	p.KV371fs	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Frame_Shift_Del_p.KV371fs|ZNF701_ENST00000391785.3_Frame_Shift_Del_p.KV305fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGAATGTGGCAAGGTTTTTAATCA	0.387																																					NSCLC(89;451 1475 9611 20673 52284)	uc010ydn.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1111-1116)aaggttfs		Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086225_53086228delAAGG	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1111_1114delAAGG	19.37:g.53086225_53086228delAAGG	ENSP00000444339:p.Lys371fs					ZNF701_uc002pzs.2_Frame_Shift_Del_p.K305fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.K371fs	p.K371fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	1174_1177	+			305					A2RRM8|B9EGF2|F5GZM6|Q66K42	Frame_Shift_Del	DEL	ENST00000540331.1	37	c.1111_1114delAAGG	CCDS54311.1																																																																																				0.387	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		-	53086228	AAGG	-	53086225	7	5	122	1	0	1	0	1	0	0	0	0	18102	131	5	0	1125	0	ZNF701	19	53086225	Frame_Shift_Del	DEL	AAGG	TCGA-12-3653-01A-01D-1495-08	46243063	53086225	6042758	41	8405											
ITSN1	6453	broad.mit.edu	37	chr21	35206635	35206635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaaaagcgccagataGgctggttcccagctaattat	12	9	12	8	1	0	1	0	0	0	1	1	2	1	2	2	3	2	3	2	3	5	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:35206635G>A	ENST00000381318.3	+	28	3664	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	ITSN1_ENST00000399349.1_Missense_Mutation_p.G1050S|ITSN1_ENST00000399367.3_Missense_Mutation_p.G1121S|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.G1126S|ITSN1_ENST00000437442.2_Missense_Mutation_p.G1121S|ITSN1_ENST00000399355.2_Missense_Mutation_p.G1055S|ITSN1_ENST00000381285.4_Missense_Mutation_p.G1126S|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.G1121S|ITSN1_ENST00000399353.1_Missense_Mutation_p.G1084S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1126	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCGCCAGATAGGCTGGTTCCC	0.423																																						uc002yta.1																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3376-3378)Ggc>Agc		Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.							54	53	53					21																	35206635		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35206635G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3376G>A	21.37:g.35206635G>A	ENSP00000370719:p.Gly1126Ser					DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.G1005S|ITSN1_uc002ysy.3_Missense_Mutation_p.G1121S|ITSN1_uc002ysx.3_Missense_Mutation_p.G1084S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.G1050S|ITSN1_uc010gmg.3_Missense_Mutation_p.G1013S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.G1126S|ITSN1_uc010gmi.3_Missense_Mutation_p.G1089S|ITSN1_uc002ytb.1_Missense_Mutation_p.G1121S|ITSN1_uc010gmk.3_Missense_Mutation_p.G1018S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.G1121S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.G989S|ITSN1_uc021wip.1_Missense_Mutation_p.G944S|ITSN1_uc002yti.1_Non-coding_Transcript	p.G1126S	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			27	3644	+			1126			SH3 4.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3376G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665247	0.96745	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.28	5.28	0.74379	Src homology-3 domain (3);Variant SH3 (1);	0.055312	0.64402	D	0.000001	D	0.94245	0.8152	H	0.98682	4.3	0.80722	D	1	D;P;D;D;D;P;P;D;D	0.89917	0.999;0.831;1.0;0.974;1.0;0.952;0.952;1.0;0.992	D;P;D;P;D;P;P;D;D	0.97110	0.992;0.792;0.997;0.88;1.0;0.88;0.88;0.995;0.943	D	0.96485	0.9359	10	0.87932	D	0	.	18.9333	0.92576	0.0:0.0:1.0:0.0	.	1018;1089;1013;1121;1055;1121;1126;1050;1084	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	S	1084;1126;1126;1126;1055;1121;1121;1055;1050;1121	ENSP00000382290:G1084S;ENSP00000370719:G1126S;ENSP00000370691:G1126S;ENSP00000370685:G1126S;ENSP00000382301:G1121S;ENSP00000382289:G1121S;ENSP00000382292:G1055S;ENSP00000382286:G1050S;ENSP00000387377:G1121S	ENSP00000370685:G1126S	G	+	1	0	ITSN1	34128505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.424000	0.97464	2.481000	0.83766	0.643000	0.83706	GGC		0.423	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		A	35206635	G	A	35206635	3	1	122	1	0	0	0	0	1	0	0	0	7926	1000	35	3	3482	3	ITSN1	21	35206635	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		35206635	12923260	42	8406											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978262	45978262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaggcttgcagcagaCgggcacacagcagactggct	11	4	14	12	1	0	3	0	0	0	3	0	3	0	3	0	3	3	7	0	3	0	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:45978262C>T	ENST00000391620.1	-	1	381	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	113	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ttgcagcagacgggcacacag	0.647																																						uc002zfj.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(337-339)Gtc>Atc		Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.							142	140	141					21																	45978262		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978262C>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.337G>A	21.37:g.45978262C>T	ENSP00000375478:p.Val113Ile					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V113I	NM_198696	NP_941969	P60369	KR103_HUMAN			0	382	-			113			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.337G>A	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	c	1.190	-0.635580	0.03584	.	.	ENSG00000212935	ENST00000391620	T	0.01438	4.89	2.86	1.04	0.20106	.	.	.	.	.	T	0.01627	0.0052	L	0.42245	1.32	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.43734	-0.9373	9	0.45353	T	0.12	.	5.9364	0.19169	0.0:0.7378:0.0:0.2622	.	113	P60369	KR103_HUMAN	I	113	ENSP00000375478:V113I	ENSP00000375478:V113I	V	-	1	0	KRTAP10-3	44802690	0.009000	0.17119	0.099000	0.21106	0.062000	0.15995	-0.330000	0.07925	0.225000	0.20959	-0.712000	0.03635	GTC		0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			T	45978262	C	T	45978262	3	4	122	1	0	0	0	0	1	0	0	0	8510	536	19	1	332	1	KRTAP10-3	21	45978262	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10771627	45978262	2151633	43	8407											
XK	7504	broad.mit.edu	37	chrX	37587132	37587133	+	Frame_Shift_Ins	INS	-	-	C																															ttcttcagtttcttcttgtaINScccctggatcctcttctggt																										TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:37587132_37587133insC	ENST00000378616.3	+	3	955_956	c.752_753insC	c.(751-756)taccccfs	p.YP251fs	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	251					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTCTTCTTGTACCCCTGGATCC	0.485																																						uc004ddq.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(751-753)tacfs		Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.																																				SO:0001589	frameshift_variant	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587132_37587133insC	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.756dupC	X.37:g.37587136_37587136dupC	ENSP00000367879:p.Tyr251fs						p.Y251fs	NM_021083	NP_066569	P51811	XK_HUMAN			2	834_835	+		all_lung(315;0.175)	251					Q4TTN6|Q8IUK6|Q9UC77	Frame_Shift_Ins	INS	ENST00000378616.3	37	c.752_753insC	CCDS14241.1																																																																																				0.485	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		C	37587133	-	C	37587132	7	5	122	1	0	1	1	0	0	0	0	0	17428	391	14	0	762	0	XK	23	37587132	Frame_Shift_Ins	INS	-	TCGA-12-3653-01A-01D-1495-08		37587132	117683428	44	8408											
SMARCA1	6594	broad.mit.edu	37	chrX	128621040	128621040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcaaatttgtataaactTtgttcaatgtccattctaaa	13	16	3	9	0	3	0	2	0	1	0	4	0	4	0	2	0	1	2	2	0	7	7			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:128621040T>G	ENST00000371122.4	-	17	2301	c.2172A>C	c.(2170-2172)caA>caC	p.Q724H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.Q712H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.Q712H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	724					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGTATAAACTTTGTTCAATGT	0.348																																						uc011muk.1																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2170-2172)caA>caC		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.							68	62	64					X																	128621040		2202	4298	6500	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128621040T>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2172A>C	X.37:g.128621040T>G	ENSP00000360163:p.Gln724His					SMARCA1_uc004eun.4_Missense_Mutation_p.Q724H|SMARCA1_uc004eup.4_Missense_Mutation_p.Q712H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H	p.Q724H	NM_003069	NP_003060	P28370	SMCA1_HUMAN			16	2285	-			724					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2172A>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504034	0.44558	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.79	4.55	0.56014	.	0.284335	0.25500	N	0.030256	T	0.71533	0.3351	N	0.01352	-0.895	0.38086	D	0.936826	B;B;B;B	0.26775	0.099;0.099;0.159;0.099	B;B;B;B	0.23852	0.01;0.013;0.049;0.022	T	0.70791	-0.4776	10	0.56958	D	0.05	-16.4389	4.248	0.10680	0.0:0.1312:0.387:0.4818	.	703;724;712;724	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	712;712;724;703	ENSP00000360162:Q712H;ENSP00000360164:Q712H;ENSP00000360163:Q724H;ENSP00000404275:Q703H	ENSP00000360162:Q712H	Q	-	3	2	SMARCA1	128448721	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.020000	0.30027	1.941000	0.56285	0.441000	0.28932	CAA		0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		G	128621040	T	G	128621040	3	3	122	1	0	0	0	0	1	0	0	0	14768	1838	64	5	1024	5	SMARCA1	23	128621040	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	91033908	128621040	26649520	45	8409											
NECAP2	55707	broad.mit.edu	37	chr1	16778338	16778338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttccctctttagaacatGaagaagaaggaaggagcagc	14	8	10	9	0	2	4	0	1	2	3	3	6	3	6	1	2	3	1	1	2	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:16778338G>A	ENST00000337132.5	+	6	585	c.495G>A	c.(493-495)atG>atA	p.M165I	NECAP2_ENST00000504551.2_Missense_Mutation_p.M104I|NECAP2_ENST00000443980.2_Missense_Mutation_p.M165I|NECAP2_ENST00000457722.2_Missense_Mutation_p.M139I|NECAP2_ENST00000406746.1_Missense_Mutation_p.M165I	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	165					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGAACATGAAGAAGAAGG	0.602																																						uc001ayq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(493-495)atG>atA		Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.							74	84	80					1																	16778338		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16778338G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.495G>A	1.37:g.16778338G>A	ENSP00000338746:p.Met165Ile					NECAP2_uc001ayo.3_Missense_Mutation_p.M165I|NECAP2_uc010ocd.2_Missense_Mutation_p.M139I	p.M165I	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	585	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	165					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.495G>A	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	4.059	0.008655	0.07912	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.41758	1.6;1.59;1.59;1.6;0.99;1.6	5.68	0.433	0.16534	.	0.210161	0.64402	N	0.000020	T	0.20577	0.0495	N	0.13043	0.29	0.49299	D	0.999775	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.03576	-1.1023	10	0.33940	T	0.23	-5.3752	5.4506	0.16563	0.2944:0.0:0.5773:0.1283	.	139;165;165	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	I	165;104;139;165;165;165	ENSP00000338746:M165I;ENSP00000424509:M104I;ENSP00000407091:M139I;ENSP00000383925:M165I;ENSP00000391942:M165I;ENSP00000427620:M165I	ENSP00000338746:M165I	M	+	3	0	NECAP2	16650925	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.469000	0.22067	0.056000	0.16144	0.561000	0.74099	ATG		0.602	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		A	16778338	G	A	16778338	3	1	123	1	0	0	0	0	1	0	0	0	10308	1290	45	3	517	3	NECAP2	1	16778338	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		16778338	232472283	1	8410											
HNRNPR	10236	broad.mit.edu	37	chr1	23648083	23648083	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcttcggaatggatccaAcaaaaagtctgttgtttgcc	11	14	8	8	1	2	0	0	0	2	0	4	2	3	2	2	2	2	2	2	2	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:23648083A>C	ENST00000374612.1	-	7	872	c.749T>G	c.(748-750)gTt>gGt	p.V250G	HNRNPR_ENST00000606561.1_Missense_Mutation_p.V111G|HNRNPR_ENST00000426846.2_Missense_Mutation_p.V90G|HNRNPR_ENST00000302271.6_Missense_Mutation_p.V250G|HNRNPR_ENST00000374616.3_Missense_Mutation_p.V250G|HNRNPR_ENST00000427764.2_Missense_Mutation_p.V212G|HNRNPR_ENST00000478691.1_Missense_Mutation_p.V149G	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	250	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AATGGATCCAACAAAAAGTCT	0.363																																						uc001bgr.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(748-750)gTt>gGt		Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.							117	121	119					1																	23648083		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23648083A>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.749T>G	1.37:g.23648083A>C	ENSP00000363741:p.Val250Gly					HNRNPR_uc010odw.2_Missense_Mutation_p.V212G|HNRNPR_uc009vql.3_Missense_Mutation_p.V111G|HNRNPR_uc001bgp.4_Missense_Mutation_p.V250G|HNRNPR_uc001bgs.4_Missense_Mutation_p.V149G|HNRNPR_uc009vqk.3_Missense_Mutation_p.V149G|HNRNPR_uc010odx.2_Missense_Mutation_p.V90G	p.V250G	NM_005826	NP_001095867	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	6	908	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	250			RRM 2.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.749T>G	CCDS232.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434211	0.83776	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.995;0.996	D	0.84491	0.0611	10	0.87932	D	0	-4.0158	13.5936	0.61975	1.0:0.0:0.0:0.0	.	90;212;111;227;250;250	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	G	250;250;250;212;90	ENSP00000363745:V250G;ENSP00000363741:V250G;ENSP00000304405:V250G;ENSP00000392799:V212G;ENSP00000415042:V90G	ENSP00000304405:V250G	V	-	2	0	HNRNPR	23520670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	1.967000	0.57214	0.459000	0.35465	GTT		0.363	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		C	23648083	A	C	23648083	3	2	123	1	0	0	0	0	1	0	0	0	7272	43	2	5	1181	5	HNRNPR	1	23648083	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	6869745	23648083	225602538	2	8411											
PUM1	9698	broad.mit.edu	37	chr1	31406150	31406150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccagaatgtgcttgcCataggtgtacttacgaagag	10	11	12	8	1	0	2	0	0	0	2	0	3	0	2	2	2	4	2	2	2	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:31406150C>T	ENST00000257075.5	-	22	3562	c.3469G>A	c.(3469-3471)Ggc>Agc	p.G1157S	SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.G1133S|PUM1_ENST00000373747.3_Missense_Mutation_p.G1160S|PUM1_ENST00000423018.2_Missense_Mutation_p.G1015S|PUM1_ENST00000424085.2_Missense_Mutation_p.G915S|PUM1_ENST00000373741.4_Missense_Mutation_p.G1195S|PUM1_ENST00000373742.2_Missense_Mutation_p.G1098S|PUM1_ENST00000426105.2_Missense_Mutation_p.G1159S	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1157	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGTGCTTGCCATAGGTGTAC	0.537																																						uc001bsi.1																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3469-3471)Ggc>Agc		Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.							215	182	193					1																	31406150		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406150C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3469G>A	1.37:g.31406150C>T	ENSP00000257075:p.Gly1157Ser					PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S|PUM1_uc010oga.1_Missense_Mutation_p.G1015S|PUM1_uc001bsk.1_Missense_Mutation_p.G1195S|PUM1_uc010ogb.1_Missense_Mutation_p.G1098S	p.G1157S	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	21	3582	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1157			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3469G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293299|4.293299	0.80914|0.80914	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T|.	0.18960|.	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18|.	4.85|4.85	4.85|4.85	0.62838|0.62838	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77075|.	0.4077|.	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D;D;B;P;D;B;D;D|.	0.89917|.	0.989;0.974;0.223;0.86;1.0;0.094;1.0;1.0|.	D;D;B;P;D;B;D;D|.	0.79784|.	0.964;0.949;0.171;0.799;0.993;0.171;0.993;0.993|.	T|.	0.78033|.	-0.2362|.	10|.	0.62326|.	D|.	0.03|.	-7.6697|-7.6697	17.7502|17.7502	0.88431|0.88431	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1098;1015;1195;1133;1157;1159;1160;1159|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	S|X	915;1157;1160;897;1159;1133;1195;1015;1098|1095;870	ENSP00000400141:G915S;ENSP00000257075:G1157S;ENSP00000362852:G1160S;ENSP00000391723:G1159S;ENSP00000401777:G1133S;ENSP00000362846:G1195S;ENSP00000399440:G1015S;ENSP00000362847:G1098S|.	ENSP00000257075:G1157S|.	G|W	-|-	1|2	0|0	PUM1|PUM1	31178737|31178737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.620000|7.620000	0.83070|0.83070	2.520000|2.520000	0.84964|0.84964	0.555000|0.555000	0.69702|0.69702	GGC|TGG		0.537	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31406150	C	T	31406150	3	4	123	1	0	0	0	0	1	0	0	0	12825	594	21	3	95	3	PUM1	1	31406150	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	7758067	31406150	217844471	3	8412											
KCNQ4	9132	broad.mit.edu	37	chr1	41285881	41285881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaaggtccaggagcagcaCcggcagaagcacttcgagaa	13	4	13	11	2	0	3	0	1	0	2	2	5	1	4	2	3	3	4	2	3	3	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:41285881C>T	ENST00000347132.5	+	7	1072	c.990C>T	c.(988-990)caC>caT	p.H330H	KCNQ4_ENST00000509682.2_Silent_p.H330H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	330					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	AGGAGCAGCACCGGCAGAAGC	0.617																																						uc001cgh.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(988-990)caC>caT		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.							45	36	39					1																	41285881		2203	4298	6501	SO:0001819	synonymous_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285881C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.990C>T	1.37:g.41285881C>T						KCNQ4_uc001cgi.2_Silent_p.H330H	p.H330H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		6	1072	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	330					O96025	Silent	SNP	ENST00000347132.5	37	c.990C>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542319	0.27563	.	.	ENSG00000117013	ENST00000443478	.	.	.	5.44	-0.424	0.12321	.	.	.	.	.	T	0.55481	0.1923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49707	-0.8911	4	.	.	.	-30.7719	9.3716	0.38256	0.0:0.4829:0.0:0.5171	.	.	.	.	S	226	.	.	P	+	1	0	KCNQ4	41058468	0.945000	0.32115	0.997000	0.53966	0.999000	0.98932	0.115000	0.15540	0.012000	0.14892	0.655000	0.94253	CCG		0.617	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		T	41285881	C	T	41285881	2	4	123	1	0	0	0	0	0	0	0	1	8085	506	18	3		3	KCNQ4	1	41285881	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	9879731	41285881	207964740	4	8413											
AMPD1	270	broad.mit.edu	37	chr1	115215817	115215817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gataggccatgcggatttggGctacatttgtcctccggata	8	12	12	9	2	0	0	0	0	0	0	2	3	2	2	3	4	2	1	3	4	3	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:115215817G>T	ENST00000520113.2	-	16	2276	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	AMPD1_ENST00000369538.3_Missense_Mutation_p.A750D|AMPD1_ENST00000353928.6_Missense_Mutation_p.A721D			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	754					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCGGATTTGGGCTACATTTGT	0.398																																						uc001efe.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(2260-2262)gCc>gAc		Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						93	87	89					1																	115215817		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115215817G>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2261C>A	1.37:g.115215817G>T	ENSP00000430075:p.Ala754Asp					DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.A750D	p.A754D	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2309	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	721					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.2261C>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011540	0.93346	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82255	-1.59;-1.59;-1.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.79123	2.44	0.80722	D	1	D;D	0.60575	0.985;0.988	P;P	0.60345	0.756;0.873	D	0.89754	0.3942	10	0.87932	D	0	-18.838	20.024	0.97514	0.0:0.0:1.0:0.0	.	750;721	Q5TF02;P23109	.;AMPD1_HUMAN	D	754;750;721	ENSP00000430075:A754D;ENSP00000358551:A750D;ENSP00000316520:A721D	ENSP00000316520:A721D	A	-	2	0	AMPD1	115017340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	GCC		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			T	115215817	G	T	115215817	3	4	123	1	0	0	0	0	1	0	0	0	585	1203	42	5	85	5	AMPD1	1	115215817	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	73929936	115215817	134034804	5	8414											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882550	144882550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggtgttggtgcttcccagGggaaccaaccagttctgtgt	6	13	13	9	0	1	0	0	0	1	0	2	1	2	1	3	4	3	3	3	4	2	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:144882550G>A	ENST00000369354.3	-	24	3658	c.3469C>T	c.(3469-3471)Cct>Tct	p.P1157S	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1157S|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P1294S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1294S|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1157					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTTCCCAGGGGAACCAACC	0.522			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3469-3471)Cct>Tct		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							143	135	138					1																	144882550		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882550G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3469C>T	1.37:g.144882550G>A	ENSP00000358360:p.Pro1157Ser					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P1157S|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.P164S	p.P1157S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3771	-			1157					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3469C>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.600326|1.600326	0.28534|0.28534	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530592|ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T	.|0.01414	.|4.92;4.92;4.93;4.92	5.99|5.99	1.89|1.89	0.25635|0.25635	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999993|0.999993	.|B	.|0.24576	.|0.106	.|B	.|0.18263	.|0.021	T|T	0.39921|0.39921	-0.9590|-0.9590	5|9	.|0.10902	.|T	.|0.67	.|.	5.6773|5.6773	0.17755|0.17755	0.0735:0.3937:0.3978:0.1351|0.0735:0.3937:0.3978:0.1351	.|.	.|1157	.|Q5VU43	.|MYOME_HUMAN	L|S	51|1157;1157;1294;1294	.|ENSP00000358360:P1157S;ENSP00000358363:P1157S;ENSP00000435654:P1294S;ENSP00000358366:P1294S	.|ENSP00000358360:P1157S	P|P	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143593907|143593907	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.096000|0.096000	0.18686|0.18686	-0.082000|-0.082000	0.11304|0.11304	0.098000|0.098000	0.17522|0.17522	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144882550	G	A	144882550	3	1	123	1	0	0	0	0	1	0	0	0	11643	1232	43	3	3655	3	PDE4DIP	1	144882550	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	29666733	144882550	104368071	6	8415											
IQGAP3	128239	broad.mit.edu	37	chr1	156532968	156532968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcttggcctgggcCagcatctcttggtagacggc	5	12	11	13	1	3	1	0	0	3	1	5	1	3	1	3	4	1	2	3	4	1	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:156532968C>T	ENST00000361170.2	-	8	766	c.756G>A	c.(754-756)ctG>ctA	p.L252L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	252					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCCTGGGCCAGCATCTCTT	0.572																																						uc001fpf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(754-756)ctG>ctA		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.							120	124	123					1																	156532968		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156532968C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.756G>A	1.37:g.156532968C>T						IQGAP3_uc009wsb.1_Silent_p.L209L	p.L252L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			7	831	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		252					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.756G>A	CCDS1144.1																																																																																				0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156532968	C	T	156532968	2	4	123	1	0	0	0	0	0	0	0	1	7816	581	21	3		3	IQGAP3	1	156532968	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	11650418	156532968	92717653	7	8416											
KCNT2	343450	broad.mit.edu	37	chr1	196227421	196227421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagaggttcagtcgctgCtgggttattttttcagctgt	5	17	12	7	1	2	1	2	0	0	1	3	1	2	1	0	2	2	6	0	2	2	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:196227421C>A	ENST00000294725.9	-	26	4029	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	KCNT2_ENST00000367433.5_Missense_Mutation_p.Q1014H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q972H|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q971H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1038					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGTCGCTGCTGGGTTATTT	0.468																																						uc001gtd.1																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3112-3114)caG>caT		Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.							109	106	107					1																	196227421		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227421C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3114G>T	1.37:g.196227421C>A	ENSP00000294725:p.Gln1038His					KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	p.Q1038H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			25	3174	-			1038					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3114G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718105	0.68844	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.22945	2.0;1.93;2.24	5.74	3.5	0.40072	.	0.000000	0.56097	D	0.000031	T	0.51092	0.1654	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.98;0.991;0.985	D;P;D;P	0.79784	0.993;0.844;0.917;0.88	T	0.57797	-0.7749	10	0.87932	D	0	-12.429	11.2782	0.49178	0.0:0.7809:0.0:0.2191	.	1003;1014;971;1038	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	1014;972;1038	ENSP00000356403:Q1014H;ENSP00000356401:Q972H;ENSP00000294725:Q1038H	ENSP00000294725:Q1038H	Q	-	3	2	KCNT2	194494044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.089000	0.50183	1.398000	0.46701	0.643000	0.83706	CAG		0.468	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		A	196227421	C	A	196227421	3	1	123	1	0	0	0	0	1	0	0	0	8092	796	28	5	305	5	KCNT2	1	196227421	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	39694453	196227421	53023200	8	8417											
MXD1	4084	broad.mit.edu	37	chr2	70164461	70164461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctggagaagctgggcaTtgagaggatccggatggaca	11	6	17	7	1	0	2	0	1	0	2	1	7	1	5	1	5	2	4	1	5	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:70164461T>C	ENST00000264444.2	+	5	673	c.413T>C	c.(412-414)aTt>aCt	p.I138T	MXD1_ENST00000540449.1_Missense_Mutation_p.I128T	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	138					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AAGCTGGGCATTGAGAGGATC	0.577																																						uc002sfy.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(412-414)aTt>aCt		Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.							89	89	89					2																	70164461		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70164461T>C		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.413T>C	2.37:g.70164461T>C	ENSP00000264444:p.Ile138Thr					MXD1_uc010yqp.2_Missense_Mutation_p.I138T|MXD1_uc010yqs.2_Missense_Mutation_p.I128T|MXD1_uc010yqq.2_Missense_Mutation_p.I75T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	p.I138T	NM_002357	NP_002348	Q05195	MAD1_HUMAN			4	703	+			138					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.413T>C	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	T	9.847	1.192639	0.21954	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.42900	1.82;1.82;0.96	5.43	3.09	0.35607	.	0.416726	0.23153	N	0.051323	T	0.20455	0.0492	N	0.14661	0.345	0.21147	N	0.99977	B;B;B	0.18968	0.032;0.032;0.032	B;B;B	0.20184	0.028;0.028;0.028	T	0.22556	-1.0213	10	0.12430	T	0.62	.	5.2955	0.15751	0.0:0.1646:0.1508:0.6846	.	128;138;138	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	T	106;138;128	ENSP00000410672:I106T;ENSP00000264444:I138T;ENSP00000443935:I128T	ENSP00000264444:I138T	I	+	2	0	MXD1	70017965	0.928000	0.31464	0.159000	0.22649	0.929000	0.56500	2.035000	0.41155	0.522000	0.28464	0.533000	0.62120	ATT		0.577	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		C	70164461	T	C	70164461	3	2	123	1	0	0	0	0	1	0	0	0	9999	1493	52	4	431	4	MXD1	2	70164461	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08		70164461	173034912	9	8418											
C2orf51	200523	broad.mit.edu	37	chr2	88828848	88828848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagtgctgactttccGtgcctcgtggatcccaaaca	8	10	9	14	2	0	2	0	1	0	1	4	3	3	3	4	1	3	1	4	1	1	1	rs148580273		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:88828848G>A	ENST00000303254.3	+	4	541	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	133						nucleus (GO:0005634)											CTGACTTTCCGTGCCTCGTGG	0.572																																						uc002stb.2																			0				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						c.(397-399)ccG>ccA		Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.		G		0,4406		0,0,2203	109	97	101		399	-8.4	0	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C2orf51	NM_152670.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		133/181	88828848	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200523					nucleus		g.chr2:88828848G>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.399G>A	2.37:g.88828848G>A							p.P133P	NM_152670	NP_689883	Q96LM6	TSC21_HUMAN			3	541	+			133						Silent	SNP	ENST00000303254.3	37	c.399G>A	CCDS2003.1																																																																																				0.572	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		A	88828848	G	A	88828848	2	1	123	1	0	0	0	0	0	0	0	1	2173	1132	40	1		1	C2orf51	2	88828848	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	18664387	88828848	154370525	10	8419											
NMS	129521	broad.mit.edu	37	chr2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcacctctttctcGccaacctaaggtaaaaaaat	13	10	7	11	1	3	0	1	0	2	0	4	0	3	0	3	2	1	2	3	2	6	3	rs201102943		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:101089991G>A	ENST00000376865.1	+	3	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													G|||	1	0.000199681	0	0.0014	5008	,	,		9711	0		0	False		,,,				2504	0					uc002tan.1																			0		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(172-174)cGc>cAc		Homo sapiens neuromedin S (NMS), mRNA.							47	46	46					2																	101089991		2177	4298	6475	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101089991G>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.173G>A	2.37:g.101089991G>A	ENSP00000366061:p.Arg58His						p.R58H	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			2	180	+			58						Missense_Mutation	SNP	ENST00000376865.1	37	c.173G>A	CCDS33259.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.177	-0.168837	0.06461	.	.	ENSG00000204640	ENST00000376865	T	0.23754	1.89	3.81	-3.39	0.04868	.	1.207740	0.05936	N	0.636093	T	0.16428	0.0395	L	0.44542	1.39	0.09310	N	1	P	0.46220	0.874	B	0.35971	0.215	T	0.25222	-1.0138	10	0.45353	T	0.12	3.2782	4.8169	0.13371	0.5921:0.0:0.2415:0.1664	.	58	Q5H8A3	NMS_HUMAN	H	58	ENSP00000366061:R58H	ENSP00000366061:R58H	R	+	2	0	NMS	100456423	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.190000	0.09615	-0.676000	0.05238	0.650000	0.86243	CGC		0.343	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		A	101089991	G	A	101089991	3	1	123	1	0	0	0	0	1	0	0	0	10502	1087	38	1	183	1	NMS	2	101089991	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	12261143	101089991	142109382	11	8420											
TTN	7273	broad.mit.edu	37	chr2	179457532	179457532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttactaggactggctccgGaacatgagctggatctgatt	9	13	11	8	1	1	2	0	2	1	0	2	5	2	5	1	4	3	2	1	4	3	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:179457532G>A	ENST00000591111.1	-	250	54615	c.54391C>T	c.(54391-54393)Ccg>Tcg	p.P18131S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P19772S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17204S|TTN_ENST00000460472.2_Missense_Mutation_p.P10707S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10832S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10899S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18131	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGCTCCGGAACATGAGCT	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(51610-51612)Ccg>Tcg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							103	104	104					2																	179457532		1922	4117	6039	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457532G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54391C>T	2.37:g.179457532G>A	ENSP00000465570:p.Pro18131Ser					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899S|TTN_uc021vta.1_Missense_Mutation_p.P10832S|TTN_uc021vtb.1_Missense_Mutation_p.P10707S	p.P17204S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		248	51835	-			18131			Fibronectin type-III 24.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51610C>T		.	.	.	.	.	.	.	.	.	.	G	11.45	1.641900	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	6.16	6.16	0.99307	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31638	0.0803	N	0.16098	0.37	0.30155	N	0.802707	P;P;P;P	0.38922	0.651;0.651;0.651;0.651	B;B;B;B	0.30943	0.122;0.122;0.122;0.122	T	0.40384	-0.9566	9	0.87932	D	0	.	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	10707;10832;10899;18131	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17204;10707;10899;10832;10705	ENSP00000343764:P17204S;ENSP00000434586:P10707S;ENSP00000340554:P10899S;ENSP00000352154:P10832S	ENSP00000340554:P10899S	P	-	1	0	TTN	179165778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.141000	0.71744	2.937000	0.99478	0.650000	0.86243	CCG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179457532	G	A	179457532	3	1	123	1	0	0	0	0	1	0	0	0	16732	1174	41	3	48917	3	TTN	2	179457532	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	78367541	179457532	63741841	12	8421											
FN1	2335	broad.mit.edu	37	chr2	216288171	216288171	+	Frame_Shift_Del	DEL	G	G	-																															tgccctcagaagtgcaatcaGtgtaattgtggttgttgtat																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:216288171delG	ENST00000359671.1	-	9	1560	c.1295delC	c.(1294-1296)actfs	p.T432fs	FN1_ENST00000346544.3_Frame_Shift_Del_p.T432fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.T432fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.T432fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.T432fs|FN1_ENST00000446046.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.T432fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.T432fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.T432fs|FN1_ENST00000354785.4_Frame_Shift_Del_p.T432fs|FN1_ENST00000426059.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.T432fs			P02751	FINC_HUMAN	fibronectin 1	432	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGTGCAATCAGTGTAATTGTG	0.488																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1294-1296)actfs		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141	124	130					2																	216288171		2203	4300	6503	SO:0001589	frameshift_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288171delG		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1295delC	2.37:g.216288171delG	ENSP00000352696:p.Thr432fs					FN1_uc002vfc.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.3_Frame_Shift_Del_p.T432fs|FN1_uc002vff.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfb.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.3_Frame_Shift_Del_p.T432fs	p.T432fs	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1561	-		Renal(323;0.127)	432			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Frame_Shift_Del	DEL	ENST00000359671.1	37	c.1295delC																																																																																					0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		-	216288171	G	-	216288171	7	5	123	1	0	1	0	1	0	0	0	0	5962	1029	36	0	6323	0	FN1	2	216288171	Frame_Shift_Del	DEL	G	TCGA-12-5295-01A-01D-1486-08	36830639	216288171	26911202	13	8422											
ZFAND2B	130617	broad.mit.edu	37	chr2	220073015	220073015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcacaagctgtggcttctAcaagcactgtccccagccca	10	7	9	15	0	1	0	0	0	1	0	2	1	2	0	3	1	5	4	3	1	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:220073015A>G	ENST00000289528.5	+	5	667	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZFAND2B_ENST00000409206.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.T158A	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	158						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGCTTCTACAAGCACTGT	0.552																																						uc002vka.3																			0				endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11						c.(472-474)Aca>Gca		Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.							93	74	81					2																	220073015		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220073015A>G	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.472A>G	2.37:g.220073015A>G	ENSP00000289528:p.Thr158Ala					ZFAND2B_uc010zkt.2_Missense_Mutation_p.T158A|ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A	p.T158A	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	644	+		Renal(207;0.0915)	158					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.472A>G	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	A	0.328	-0.957948	0.02267	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.41758	1.04;1.04;0.99;1.0;0.99;0.99;1.0;0.99	5.18	0.0655	0.14357	.	1.004250	0.08013	N	0.990747	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25606	-1.0127	10	0.07325	T	0.83	-0.2799	3.1839	0.06594	0.5093:0.0:0.3121:0.1786	.	49;158;158	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	A	158	ENSP00000386824:T158A;ENSP00000386399:T158A;ENSP00000289528:T158A;ENSP00000409931:T158A;ENSP00000387179:T158A;ENSP00000386898:T158A;ENSP00000386370:T158A;ENSP00000411334:T158A	ENSP00000289528:T158A	T	+	1	0	ZFAND2B	219781259	0.000000	0.05858	0.178000	0.23040	0.536000	0.34869	-0.102000	0.10956	-0.125000	0.11703	0.533000	0.62120	ACA		0.552	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		G	220073015	A	G	220073015	3	3	123	1	0	0	0	0	1	0	0	0	17625	391	14	4	490	4	ZFAND2B	2	220073015	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	3784844	220073015	23126358	14	8423											
SP110	3431	broad.mit.edu	37	chr2	231042927	231042927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcctcaccacaggtcacggGgagcttagaacagtgaaaat	13	6	11	11	2	2	2	2	1	0	1	2	3	2	3	2	3	2	1	2	3	4	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:231042927G>T	ENST00000358662.4	-	13	1471	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T	SP110_ENST00000338556.3_Missense_Mutation_p.P167T|SP110_ENST00000258381.6_Missense_Mutation_p.P465T|SP110_ENST00000258382.5_Missense_Mutation_p.P465T|SP110_ENST00000392048.3_Missense_Mutation_p.P463T|SP110_ENST00000540870.1_Missense_Mutation_p.P471T	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	465	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGGTCACGGGGAGCTTAGAA	0.413																																						uc002vqg.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1393-1395)Ccc>Acc		Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.							73	70	71					2																	231042927		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231042927G>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1393C>A	2.37:g.231042927G>T	ENSP00000351488:p.Pro465Thr					SP110_uc002vqh.3_Missense_Mutation_p.P465T|SP110_uc002vqi.4_Missense_Mutation_p.P465T|SP110_uc010fxk.3_Missense_Mutation_p.P463T|SP110_uc021vxx.1_Missense_Mutation_p.P471T|SP110_uc010fxj.3_Missense_Mutation_p.P108T	p.P465T	NM_080424	NP_536349	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	12	1633	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	465			SAND.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1393C>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061818	0.55432	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.99	4.1	0.47936	SAND domain-like (2);SAND domain (3);	0.202091	0.24975	N	0.034107	D	0.82407	0.5030	M	0.88512	2.96	0.26124	N	0.980513	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.974;1.0	D;D;D;D;D	0.97110	0.96;1.0;0.96;0.95;0.999	T	0.74677	-0.3585	10	0.56958	D	0.05	.	10.3589	0.43980	0.0948:0.0:0.9052:0.0	.	463;167;471;465;465	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	T	465;465;463;465;471;167	ENSP00000258381:P465T;ENSP00000351488:P465T;ENSP00000375902:P463T;ENSP00000258382:P465T;ENSP00000439558:P471T;ENSP00000344049:P167T	ENSP00000258381:P465T	P	-	1	0	SP110	230751171	0.999000	0.42202	0.178000	0.23040	0.026000	0.11368	1.869000	0.39519	1.384000	0.46424	0.655000	0.94253	CCC		0.413	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		T	231042927	G	T	231042927	3	4	123	1	0	0	0	0	1	0	0	0	14961	1232	43	5	840	5	SP110	2	231042927	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	10969912	231042927	12156446	15	8424											
RYBP	23429	broad.mit.edu	37	chr3	72427619	72427619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtctgtgctctctgaccCcgagctgctctggttctgct	2	15	10	14	1	4	1	0	1	4	0	5	2	4	1	2	1	4	5	2	1	0	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:72427619C>T	ENST00000477973.2	-	4	868	c.869G>A	c.(868-870)gGg>gAg	p.G290E		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CTCTCTGACCCCGAGCTGCTC	0.512																																						uc003dpe.3																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(574-576)Ggg>Agg		Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.							94	97	96					3																	72427619		2134	4247	6381	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427619C>T	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.869G>A	3.37:g.72427619C>T	ENSP00000419494:p.Gly290Glu						p.G192R	NM_012234	NP_036366	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	3	574	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	202			Interaction with E4TF1B.|Ser-rich.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.574G>A		.	.	.	.	.	.	.	.	.	.	C	19.48	3.835010	0.71373	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.44542	1.39	.	.	.	.	.	.	.	.	.	T	0.62234	-0.6897	5	.	.	.	-23.5316	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	E	290	.	.	G	-	2	0	RYBP	72510309	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.928000	0.63447	2.937000	0.99478	0.650000	0.86243	GGG		0.512	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		T	72427619	C	T	72427619	3	4	123	1	0	0	0	0	1	0	0	0	13766	623	22	3	86	3	RYBP	3	72427619	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		72427619	125594811	16	8425											
NUDT16	131870	broad.mit.edu	37	chr3	131101062	131101062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacgtcgggtcagggcCacgcgttgtggcccacttct	4	9	12	16	4	2	0	1	0	1	0	4	0	3	0	3	3	0	1	3	3	0	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:131101062C>T	ENST00000521288.1	+	2	342	c.311C>T	c.(310-312)cCa>cTa	p.P104L	RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000502852.1_Missense_Mutation_p.P104L|NUDT16_ENST00000537561.1_Missense_Mutation_p.P58L|NUDT16_ENST00000359850.3_Missense_Mutation_p.P71L			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	104	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						GGGTCAGGGCCACGCGTTGTG	0.692																																						uc003eog.2																			0				large_intestine(1)|lung(6)	7						c.(310-312)cCa>cTa		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.							24	28	27					3																	131101062		2200	4298	6498	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131101062C>T	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.311C>T	3.37:g.131101062C>T	ENSP00000429274:p.Pro104Leu					LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Missense_Mutation_p.P58L|NUDT16_uc021xec.1_Missense_Mutation_p.P104L|NUDT16_uc011bln.2_Missense_Mutation_p.P58L	p.P104L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN			1	351	+			104			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.311C>T	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815890	0.32145	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	3.72	-5.57	0.02521	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.540052	0.17590	N	0.168790	T	0.06917	0.0176	M	0.63208	1.945	0.25540	N	0.987189	B;B	0.23990	0.002;0.095	B;B	0.22152	0.003;0.038	T	0.18493	-1.0335	10	0.72032	D	0.01	-13.9947	3.4995	0.07668	0.4633:0.2285:0.2281:0.08	.	104;71	Q96DE0;B4E3B4	NUD16_HUMAN;.	L	58;71;104;104	ENSP00000440230:P58L;ENSP00000352911:P71L;ENSP00000429274:P104L;ENSP00000422375:P104L	ENSP00000352911:P71L	P	+	2	0	NUDT16	132583752	0.000000	0.05858	0.007000	0.13788	0.539000	0.34962	-0.463000	0.06696	-1.519000	0.01775	-0.324000	0.08512	CCA		0.692	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		T	131101062	C	T	131101062	3	4	123	1	0	0	0	0	1	0	0	0	10732	594	21	3	317	3	NUDT16	3	131101062	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	58673443	131101062	66921368	17	8426											
SPSB4	92369	broad.mit.edu	37	chr3	140866045	140866045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcggccctgggccgccaGcgcctgcaggacatcagctc	5	5	13	18	4	1	0	1	0	0	0	3	1	1	1	4	3	3	3	4	3	0	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:140866045G>A	ENST00000310546.2	+	3	1500	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	252	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGGCCGCCAGCGCCTGCAGG	0.617																																						uc003ett.3																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(754-756)caG>caA		Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.							53	53	53					3																	140866045		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140866045G>A		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.756G>A	3.37:g.140866045G>A						SPSB4_uc010hum.3_3'UTR	p.Q252Q	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN			2	1001	+			252			SOCS box.			Silent	SNP	ENST00000310546.2	37	c.756G>A	CCDS3115.1																																																																																				0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		A	140866045	G	A	140866045	2	1	123	1	0	0	0	0	0	0	0	1	15114	962	34	3		3	SPSB4	3	140866045	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	9764983	140866045	57156385	18	8427											
DRD5	1816	broad.mit.edu	37	chr4	9783859	9783859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccatcgtgcggagccGccacctgcgcgccaacatga	8	4	12	17	6	0	1	0	1	0	0	1	2	0	2	5	1	5	1	5	1	1	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:9783859G>A	ENST00000304374.2	+	1	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	69					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGCGGAGCCGCCACCTGCGC	0.647																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(205-207)cGc>cAc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						36	29	31					4																	9783859		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783859G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.206G>A	4.37:g.9783859G>A	ENSP00000306129:p.Arg69His						p.R69H	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	602	+			69					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.206G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	18.86	3.713542	0.68730	.	.	ENSG00000169676	ENST00000304374	T	0.41065	1.01	4.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.90814	3.15	0.50171	D	0.999855	D	0.89917	1.0	D	0.67231	0.95	T	0.74402	-0.3677	10	0.87932	D	0	.	12.5228	0.56069	0.0:0.1693:0.8307:0.0	.	69	P21918	DRD5_HUMAN	H	69	ENSP00000306129:R69H	ENSP00000306129:R69H	R	+	2	0	DRD5	9392957	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.124000	0.71620	0.861000	0.35504	0.305000	0.20034	CGC		0.647	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9783859	G	A	9783859	3	1	123	1	0	0	0	0	1	0	0	0	4760	1087	38	1	208	1	DRD5	4	9783859	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		9783859	181370417	19	8428											
FGFBP1	9982	broad.mit.edu	37	chr4	15938124	15938124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttaatctgggtgttGcccagagtgtccttttgttc	4	18	10	9	0	2	1	0	0	2	1	4	1	3	1	2	1	2	3	2	1	1	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:15938124G>T	ENST00000382333.1	-	3	426	c.132C>A	c.(130-132)ggC>ggA	p.G44G	FGFBP1_ENST00000259988.2_Silent_p.G44G	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	44					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTGGGTGTTGCCCAGAGTGT	0.517																																						uc003gom.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(130-132)ggC>ggA		Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.							117	115	116					4																	15938124		2203	4300	6503	SO:0001819	synonymous_variant	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15938124G>T	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.132C>A	4.37:g.15938124G>T						FGFBP1_uc021xml.1_Silent_p.G44G	p.G44G	NM_005130	NP_005121	Q14512	FGFP1_HUMAN			2	427	-			44					A8K5J2	Silent	SNP	ENST00000382333.1	37	c.132C>A	CCDS3418.1																																																																																				0.517	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		T	15938124	G	T	15938124	2	4	123	1	0	0	0	0	0	0	0	1	5860	1306	46	5		5	FGFBP1	4	15938124	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	6154265	15938124	175216152	20	8429											
RFC1	5981	broad.mit.edu	37	chr4	39306546	39306546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtagctgtatcccaaCtcctaatcaaaatattggaa	14	11	5	11	1	1	0	1	0	0	0	4	1	4	1	3	1	2	3	3	1	8	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:39306546C>A	ENST00000381897.1	-	15	2134	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	RFC1_ENST00000349703.2_Missense_Mutation_p.E666D	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	667					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.2																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1999-2001)gaG>gaT		Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.							182	187	185					4																	39306546		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39306546C>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2001G>T	4.37:g.39306546C>A	ENSP00000371321:p.Glu667Asp					RFC1_uc003gtx.2_Missense_Mutation_p.E666D	p.E667D	NM_001204747	NP_001191676	P35251	RFC1_HUMAN			14	2141	-			667					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2001G>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361965	0.61403	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	D;D;T	0.94138	-3.36;-3.36;0.7	5.2	1.47	0.22746	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	M	0.67625	2.065	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91414	0.5153	10	0.31617	T	0.26	-25.3945	8.1273	0.31005	0.0:0.3035:0.0:0.6965	.	667;666	P35251;P35251-2	RFC1_HUMAN;.	D	667;666;129	ENSP00000371321:E667D;ENSP00000261424:E666D;ENSP00000422129:E129D	ENSP00000261424:E666D	E	-	3	2	RFC1	38982941	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	0.937000	0.28951	0.309000	0.22966	-1.300000	0.01332	GAG		0.433	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		A	39306546	C	A	39306546	3	1	123	1	0	0	0	0	1	0	0	0	13244	564	20	5	1489	5	RFC1	4	39306546	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	23368422	39306546	151847730	21	8430											
LIMCH1	22998	broad.mit.edu	37	chr4	41621353	41621353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaacaaaagcaatcagacGgcctacgtccccgcgcctct	11	5	8	17	5	2	1	1	0	1	1	3	2	3	1	5	1	3	1	5	1	5	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:41621353G>A	ENST00000313860.7	+	8	885	c.831G>A	c.(829-831)acG>acA	p.T277T	LIMCH1_ENST00000511496.1_Silent_p.T118T|LIMCH1_ENST00000514096.1_Silent_p.T130T|LIMCH1_ENST00000508501.1_Silent_p.T277T|LIMCH1_ENST00000512632.1_Silent_p.T277T|LIMCH1_ENST00000509638.1_Silent_p.T118T|LIMCH1_ENST00000513024.1_Silent_p.T118T|LIMCH1_ENST00000512820.1_Silent_p.T277T|LIMCH1_ENST00000512946.1_Silent_p.T277T|LIMCH1_ENST00000396595.3_Silent_p.T123T|LIMCH1_ENST00000509277.1_Silent_p.T123T|LIMCH1_ENST00000381753.4_Silent_p.T123T|LIMCH1_ENST00000509454.1_Silent_p.T125T|LIMCH1_ENST00000503057.1_Silent_p.T118T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	277					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAATCAGACGGCCTACGTCC	0.567																																						uc003gvz.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(352-354)acG>acA		Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.							96	97	97					4																	41621353		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621353G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.831G>A	4.37:g.41621353G>A						LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gwe.4_Silent_p.T277T|LIMCH1_uc003gvu.4_Silent_p.T277T|LIMCH1_uc003gvv.4_Silent_p.T277T|LIMCH1_uc003gvw.4_Silent_p.T277T|LIMCH1_uc003gvx.4_Silent_p.T277T|LIMCH1_uc003gvy.4_Silent_p.T118T|LIMCH1_uc003gwa.4_Silent_p.T118T|LIMCH1_uc011byu.2_Silent_p.T123T|LIMCH1_uc003gwc.4_Silent_p.T123T|LIMCH1_uc003gwd.4_Silent_p.T123T|LIMCH1_uc011byv.2_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	p.T118T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			5	771	+			277			CH.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.354G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	5.390	0.257112	0.10239	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.74	-9.13	0.00704	.	.	.	.	.	T	0.43033	0.1229	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49103	-0.8974	4	.	.	.	-16.3876	5.4401	0.16504	0.5952:0.136:0.1549:0.1139	.	.	.	.	Q	112	.	.	R	+	2	0	LIMCH1	41316110	0.000000	0.05858	0.354000	0.25760	0.519000	0.34347	-2.109000	0.01335	-1.604000	0.01595	-0.993000	0.02533	CGG		0.567	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		A	41621353	G	A	41621353	2	1	123	1	0	0	0	0	0	0	0	1	8797	1103	39	2		2	LIMCH1	4	41621353	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	2314807	41621353	149532923	22	8431											
UGT2B11	10720	broad.mit.edu	37	chr4	70080048	70080048	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcataactttcttatttgaAactacatctttacagaagtt	13	18	3	7	0	3	2	1	1	2	1	3	2	3	2	0	0	4	1	0	0	6	9			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:70080048A>C	ENST00000446444.1	-	1	401	c.393T>G	c.(391-393)gtT>gtG	p.V131V	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	131					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATTTGAAACTACATCTT	0.343																																						uc003heh.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(391-393)gtT>gtG		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.							50	56	54					4																	70080048		2202	4297	6499	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080048A>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.393T>G	4.37:g.70080048A>C						AK124272_uc003hei.1_Intron	p.V131V	NM_001073	NP_001064	O75310	UDB11_HUMAN			0	402	-			131					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.393T>G	CCDS3527.1																																																																																				0.343	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		C	70080048	A	C	70080048	2	2	123	1	0	0	0	0	0	0	0	1	16954	1	1	5		5	UGT2B11	4	70080048	Silent	SNP	A	TCGA-12-5295-01A-01D-1486-08	28458695	70080048	121074228	23	8432											
FRAS1	80144	broad.mit.edu	37	chr4	79295398	79295398	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatcatgcaaagcacaaAtgcacaggtaacttggagac	16	6	10	9	0	1	2	1	0	0	2	1	3	1	2	0	2	4	5	0	2	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:79295398A>T	ENST00000325942.6	+	25	3584	c.3144A>T	c.(3142-3144)aaA>aaT	p.K1048N	FRAS1_ENST00000264895.6_Missense_Mutation_p.K1048N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1048					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAAAGCACAAATGCACAGGTA	0.473																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(3142-3144)aaA>aaT		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							113	114	114					4																	79295398		1946	4149	6095	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79295398A>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3144A>T	4.37:g.79295398A>T	ENSP00000326330:p.Lys1048Asn					FRAS1_uc003hkw.3_Missense_Mutation_p.K1048N	p.K1048N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			24	3584	+			1047					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3144A>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928988	0.34002	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.76186	-1.0;-1.0	5.94	-1.09	0.09904	.	0.882441	0.10209	N	0.702386	T	0.56543	0.1992	N	0.21373	0.66	0.58432	D	0.999996	B;B	0.30326	0.276;0.03	B;B	0.32211	0.142;0.009	T	0.46527	-0.9185	10	0.49607	T	0.09	.	4.9481	0.14000	0.4951:0.2731:0.2318:0.0	.	1048;1048	E9PHH6;A2RRR8	.;.	N	1048	ENSP00000326330:K1048N;ENSP00000264895:K1048N	ENSP00000264895:K1048N	K	+	3	2	FRAS1	79514422	0.398000	0.25279	0.093000	0.20910	0.014000	0.08584	0.648000	0.24828	-0.073000	0.12842	-0.321000	0.08615	AAA		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79295398	A	T	79295398	3	4	123	1	0	0	0	0	1	0	0	0	6042	98	4	5	3242	5	FRAS1	4	79295398	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	9215350	79295398	111858878	24	8433											
NDST4	64579	broad.mit.edu	37	chr4	115767016	115767016	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctgaggggtcaatgAggatggtgatgatcttggct	7	12	15	7	0	3	4	1	4	2	0	3	5	3	5	1	5	0	1	1	5	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:115767016A>G	ENST00000264363.2	-	10	2756	c.2078T>C	c.(2077-2079)cTc>cCc	p.L693P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	693	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGGTCAATGAGGATGGTGAT	0.428																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2077-2079)cTc>cCc		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							135	126	129					4																	115767016		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767016A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2078T>C	4.37:g.115767016A>G	ENSP00000264363:p.Leu693Pro					NDST4_uc010imw.3_Non-coding_Transcript	p.L693P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	9	2757	-		Ovarian(17;0.156)	693			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2078T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428811	0.83667	.	.	ENSG00000138653	ENST00000264363	T	0.61980	0.06	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89260	0.3597	10	0.87932	D	0	.	15.8104	0.78557	1.0:0.0:0.0:0.0	.	693	Q9H3R1	NDST4_HUMAN	P	693	ENSP00000264363:L693P	ENSP00000264363:L693P	L	-	2	0	NDST4	115986465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.851000	0.92205	2.125000	0.65367	0.533000	0.62120	CTC		0.428	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		G	115767016	A	G	115767016	3	3	123	1	0	0	0	0	1	0	0	0	10258	304	11	4	560	4	NDST4	4	115767016	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	36471618	115767016	75387260	25	8434											
ODZ3	55714	broad.mit.edu	37	chr4	183658027	183658027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacttgagttccagagctGcagggtataagtcagttctc	9	12	10	10	0	2	2	1	1	1	1	4	2	3	2	2	1	3	5	2	1	3	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:183658027G>T	ENST00000511685.1	+	17	3157	c.3034G>T	c.(3034-3036)Gca>Tca	p.A1012S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.A1012S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1012					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCCAGAGCTGCAGGGTATAA	0.388																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(3034-3036)Gca>Tca		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							99	91	94					4																	183658027		1853	4102	5955	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183658027G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3034G>T	4.37:g.183658027G>T	ENSP00000424226:p.Ala1012Ser					ODZ3_uc003ive.1_Missense_Mutation_p.A418S	p.A1012S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	15	3109	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1012					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3034G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378676	0.61735	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86627	-2.15;-2.15	4.92	4.92	0.64577	.	.	.	.	.	T	0.80248	0.4588	N	0.13043	0.29	0.54753	D	0.999989	P	0.51791	0.948	P	0.45610	0.487	T	0.78229	-0.2285	9	0.17369	T	0.5	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	1012	Q9P273	TEN3_HUMAN	S	1012	ENSP00000424226:A1012S;ENSP00000385276:A1012S	ENSP00000385276:A1012S	A	+	1	0	ODZ3	183895021	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.626000	0.83164	2.553000	0.86117	0.655000	0.94253	GCA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183658027	G	T	183658027	3	4	123	1	0	0	0	0	1	0	0	0	10836	1319	46	5	3096	5	ODZ3	4	183658027	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	67891011	183658027	7496249	26	8435											
TRIML1	339976	broad.mit.edu	37	chr4	189063477	189063477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagttcctgaaggaagaGgagcagctgcaactccagct	12	6	11	12	0	0	2	0	1	0	1	2	4	2	4	3	2	5	5	3	2	3	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:189063477G>C	ENST00000332517.3	+	3	716	c.576G>C	c.(574-576)gaG>gaC	p.E192D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	192					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAAGGAAGAGGAGCAGCTGC	0.438																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(574-576)gaG>gaC		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							94	91	92					4																	189063477		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063477G>C	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.576G>C	4.37:g.189063477G>C	ENSP00000327738:p.Glu192Asp					TRIML1_uc003izn.1_5'Flank	p.E192D	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	2	691	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	192					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.576G>C	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001075	0.54254	.	.	ENSG00000184108	ENST00000332517	T	0.08984	3.03	4.85	2.2	0.27929	.	0.000000	0.47852	D	0.000204	T	0.21761	0.0524	M	0.92833	3.35	0.29629	N	0.845563	D	0.56521	0.976	P	0.49332	0.607	T	0.22173	-1.0224	10	0.87932	D	0	-29.7546	8.3808	0.32470	0.2681:0.0:0.7319:0.0	.	192	Q8N9V2	TRIML_HUMAN	D	192	ENSP00000327738:E192D	ENSP00000327738:E192D	E	+	3	2	TRIML1	189300471	1.000000	0.71417	0.996000	0.52242	0.755000	0.42902	0.795000	0.26972	0.773000	0.33404	-0.142000	0.14014	GAG		0.438	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		C	189063477	G	C	189063477	3	2	123	1	0	0	0	0	1	0	0	0	16547	991	35	5	586	5	TRIML1	4	189063477	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	5405450	189063477	2090799	27	8436											
G3BP1	10146	broad.mit.edu	37	chr5	151180343	151180343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaaacgtggtggagttGcgcattaacagtggtgggaa	11	10	16	4	2	0	0	0	0	0	0	0	3	0	3	0	5	3	2	0	5	4	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:151180343G>T	ENST00000394123.3	+	11	1252	c.1107G>T	c.(1105-1107)ttG>ttT	p.L369F	G3BP1_ENST00000543466.1_Missense_Mutation_p.L187F|G3BP1_ENST00000356245.3_Missense_Mutation_p.L369F			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	369	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGGTGGAGTTGCGCATTAACA	0.388																																						uc003lun.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1105-1107)ttG>ttT		Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.							325	295	305					5																	151180343		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151180343G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1107G>T	5.37:g.151180343G>T	ENSP00000377681:p.Leu369Phe					G3BP1_uc003lum.3_Missense_Mutation_p.L369F|G3BP1_uc011dcu.2_Missense_Mutation_p.L187F|G3BP1_uc010jhz.3_Missense_Mutation_p.L187F|G3BP1_uc003luq.3_Missense_Mutation_p.L37F	p.L369F	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1278	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	369			RRM.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.1107G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694074	0.68386	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.16743	2.32;2.32;2.32	5.38	1.1	0.20463	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	L	0.45228	1.405	0.51233	D	0.999916	D	0.54772	0.968	P	0.59889	0.865	T	0.04752	-1.0929	10	0.87932	D	0	-19.3328	3.1113	0.06359	0.2099:0.1842:0.4811:0.1247	.	369	Q13283	G3BP1_HUMAN	F	369;187;369;211	ENSP00000377681:L369F;ENSP00000445035:L187F;ENSP00000348578:L369F	ENSP00000274596:L211F	L	+	3	2	G3BP1	151160536	0.999000	0.42202	1.000000	0.80357	0.945000	0.59286	0.448000	0.21726	0.257000	0.21650	-0.150000	0.13652	TTG		0.388	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		T	151180343	G	T	151180343	3	4	123	1	0	0	0	0	1	0	0	0	6141	1310	46	5	1145	5	G3BP1	5	151180343	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		151180343	29734917	28	8437											
GRIA1	2890	broad.mit.edu	37	chr5	153030021	153030021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggagaagaaaaaggagCggctggtggtggtggactgt	11	7	18	5	1	0	2	0	0	0	2	0	5	0	4	1	7	1	1	1	7	3	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:153030021C>T	ENST00000285900.5	+	4	935	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R208W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R198W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R118W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R129W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R208W|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	198					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAAAAAGGAGCGGCTGGTGGT	0.542																																						uc011dcy.2																			0		p.R208C(2)|p.R208R(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(622-624)Cgg>Tgg		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						108	103	105					5																	153030021		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153030021C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.592C>T	5.37:g.153030021C>T	ENSP00000285900:p.Arg198Trp					GRIA1_uc003lva.4_Missense_Mutation_p.R198W|GRIA1_uc003luy.4_Missense_Mutation_p.R198W|GRIA1_uc003luz.4_Missense_Mutation_p.R103W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R118W|GRIA1_uc011dcx.2_Missense_Mutation_p.R129W|GRIA1_uc011dcz.2_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	p.R208W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	649	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	198					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.622C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003695	0.54254	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.33	-1.32	0.09201	Extracellular ligand-binding receptor (1);	0.055015	0.64402	D	0.000001	T	0.42877	0.1222	L	0.39898	1.24	0.45662	D	0.998588	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;1.0	P;P;D;P;P;D	0.67103	0.901;0.901;0.949;0.901;0.841;0.949	T	0.07654	-1.0761	10	0.37606	T	0.19	.	11.2657	0.49110	0.6337:0.3015:0.0:0.0648	.	208;208;118;208;198;198	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	W	198;198;118;152;198;129;129;208;208	ENSP00000285900:R198W;ENSP00000427920:R118W;ENSP00000339343:R198W;ENSP00000427864:R129W;ENSP00000442108:R129W;ENSP00000428994:R208W;ENSP00000415569:R208W	ENSP00000285900:R198W	R	+	1	2	GRIA1	153010214	0.634000	0.27190	0.814000	0.32528	0.577000	0.36160	-0.178000	0.09782	-0.654000	0.05394	-0.142000	0.14014	CGG		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153030021	C	T	153030021	3	4	123	1	0	0	0	0	1	0	0	0	6767	759	27	1	606	1	GRIA1	5	153030021	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1849678	153030021	27885239	29	8438											
CCNG1	900	broad.mit.edu	37	chr5	162869506	162869506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttctgggcgtactgcaCggcaattgaagcatagctac	9	12	11	9	2	1	1	0	1	1	0	1	1	1	1	0	2	5	6	0	2	5	6	rs201575982		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:162869506C>T	ENST00000340828.2	+	6	1047	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000511683.2_Missense_Mutation_p.R141W|CCNG1_ENST00000512163.1_Missense_Mutation_p.R141W|CCNG1_ENST00000504553.1_Intron|CCNG1_ENST00000510664.1_Missense_Mutation_p.R147W|CCNG1_ENST00000393929.1_Missense_Mutation_p.R275W	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	275				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903). {ECO:0000305}.	brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GCGTACTGCACGGCAATTGAA	0.378													C|||	1	0.000199681	0	0	5008	,	,		19208	0.001		0	False		,,,				2504	0					uc003lzb.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(823-825)Cgg>Tgg		Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.							144	141	142					5																	162869506		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162869506C>T	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.823C>T	5.37:g.162869506C>T	ENSP00000344635:p.Arg275Trp					CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.2_Missense_Mutation_p.R139W|CCNG1_uc003lzc.3_Non-coding_Transcript	p.R275W	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	5	1057	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	275	RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).				B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.823C>T	CCDS4360.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.25	2.179900	0.38511	.	.	ENSG00000113328	ENST00000512163;ENST00000393929;ENST00000340828;ENST00000511683;ENST00000510664	T;T;T;T;T	0.38401	1.14;2.28;2.28;1.14;1.5	5.79	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.59436	1.845	0.80722	D	1	B	0.26041	0.14	B	0.14023	0.01	T	0.19745	-1.0296	10	0.87932	D	0	-1.0215	14.3251	0.66515	0.5074:0.4926:0.0:0.0	.	275	P51959	CCNG1_HUMAN	W	141;275;275;141;147	ENSP00000424315:R141W;ENSP00000377506:R275W;ENSP00000344635:R275W;ENSP00000424141:R141W;ENSP00000422379:R147W	ENSP00000344635:R275W	R	+	1	2	CCNG1	162802084	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.460000	0.35244	0.762000	0.33152	0.655000	0.94253	CGG		0.378	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		T	162869506	C	T	162869506	3	4	123	1	0	0	0	0	1	0	0	0	2923	527	19	1	841	1	CCNG1	5	162869506	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	9839485	162869506	18045754	30	8439											
PPP1R11	6992	broad.mit.edu	37	chr6	30035220	30035220	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgggctgagcgagacCgtcactgagacaacggttac	9	6	16	10	3	1	3	1	2	0	2	1	5	1	3	1	4	3	3	1	4	2	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:30035220C>A	ENST00000376772.3	+	1	356	c.33C>A	c.(31-33)acC>acA	p.T11T	PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376763.1_5'Flank|PPP1R11_ENST00000376758.1_5'Flank|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376765.2_5'Flank	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	11						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						TGAGCGAGACCGTCACTGAGA	0.632																																					Pancreas(185;1767 3918 43793)	uc003npb.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(31-33)acC>acA		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.							58	56	57					6																	30035220		2203	4300	6503	SO:0001819	synonymous_variant	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30035220C>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.33C>A	6.37:g.30035220C>A						PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	p.T11T	NM_021959	NP_068778	O60927	PP1RB_HUMAN			0	289	+			11						Silent	SNP	ENST00000376772.3	37	c.33C>A	CCDS4671.1																																																																																				0.632	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		A	30035220	C	A	30035220	2	1	123	1	0	0	0	0	0	0	0	1	12353	639	23	5		5	PPP1R11	6	30035220	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08		30035220	141079847	31	8440											
ENPP4	22875	broad.mit.edu	37	chr6	46107333	46107333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcattatgaagttattaGtaatacttttgttttctgga	10	21	7	3	0	2	1	1	1	1	0	2	2	2	2	0	1	1	4	0	1	6	10			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:46107333G>C	ENST00000321037.4	+	2	243	c.13G>C	c.(13-15)Gta>Cta	p.V5L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	5					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GAAGTTATTAGTAATACTTTT	0.343																																						uc003oxy.3																			0		p.L4L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(13-15)Gta>Cta		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.							50	51	50					6																	46107333		2201	4292	6493	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107333G>C	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.13G>C	6.37:g.46107333G>C	ENSP00000318066:p.Val5Leu						p.V5L	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			1	272	+			5					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.13G>C	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689788	0.14973	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72394	-0.65	5.96	-1.21	0.09524	.	3.769140	0.00508	N	0.000166	T	0.13713	0.0332	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	10	0.02654	T	1	-0.0398	0.1486	0.00090	0.2472:0.204:0.2044:0.3444	.	5	Q9Y6X5	ENPP4_HUMAN	L	5	ENSP00000318066:V5L	ENSP00000318066:V5L	V	+	1	0	ENPP4	46215292	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	-0.247000	0.08866	-0.111000	0.12001	0.650000	0.86243	GTA		0.343	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			C	46107333	G	C	46107333	3	2	123	1	0	0	0	0	1	0	0	0	5132	1029	36	5	15	5	ENPP4	6	46107333	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	16072113	46107333	125007734	32	8441											
COL9A1	1297	broad.mit.edu	37	chr6	71004007	71004007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcactactcctctccaCgccaatcatgatcttatgcc	10	11	5	15	1	3	1	1	1	2	0	5	1	4	1	4	0	3	2	4	0	4	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:71004007C>T	ENST00000357250.6	-	5	717	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	COL9A1_ENST00000370496.3_Missense_Mutation_p.V187M	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	187	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.V187L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTCTCCACGCCAATCATG	0.433																																						uc003pfg.4																			1	Substitution - Missense(1)	p.V187L(2)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(559-561)Gtg>Atg		Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.							135	131	132					6																	71004007		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004007C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.559G>A	6.37:g.71004007C>T	ENSP00000349790:p.Val187Met						p.V187M	NM_001851	NP_001842	P20849	CO9A1_HUMAN			4	718	-			187			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.559G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803883	0.70682	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.03242	4.0;4.0	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.15522	0.0374	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00110	-1.2048	10	0.87932	D	0	.	14.5133	0.67802	0.0:0.9299:0.0:0.0701	.	187	P20849	CO9A1_HUMAN	M	187	ENSP00000349790:V187M;ENSP00000359527:V187M	ENSP00000349790:V187M	V	-	1	0	COL9A1	71060728	0.997000	0.39634	0.996000	0.52242	0.863000	0.49368	3.594000	0.54008	2.890000	0.99128	0.650000	0.86243	GTG		0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			T	71004007	C	T	71004007	3	4	123	1	0	0	0	0	1	0	0	0	3707	536	19	1	2418	1	COL9A1	6	71004007	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	24896674	71004007	100111060	33	8442											
TTK	7272	broad.mit.edu	37	chr6	80741263	80741263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attaaagcagataggaagtgGaggttcaagcaaggtaagta	17	8	13	3	0	1	1	1	0	0	1	1	3	1	3	0	4	2	5	0	4	8	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:80741263G>A	ENST00000369798.2	+	14	1712	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	TTK_ENST00000230510.3_Missense_Mutation_p.G533E|TTK_ENST00000509894.1_Missense_Mutation_p.G533E	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	534	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGAAGTGGAGGTTCAAGC	0.279																																						uc003pjc.3																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1600-1602)gGa>gAa		Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.							50	52	51					6																	80741263		2198	4296	6494	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80741263G>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1601G>A	6.37:g.80741263G>A	ENSP00000358813:p.Gly534Glu					TTK_uc003pjb.4_Missense_Mutation_p.G533E	p.G534E	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	13	1712	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	534			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1601G>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472545	0.84640	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.96334	-3.98;-3.98;-3.98	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049413	0.85682	D	0.000000	D	0.98940	0.9640	H	0.98048	4.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.954	D	0.99537	1.0962	10	0.87932	D	0	.	18.4594	0.90734	0.0:0.0:1.0:0.0	.	534;533	P33981;A8K8U5	TTK_HUMAN;.	E	533;533;534	ENSP00000422936:G533E;ENSP00000230510:G533E;ENSP00000358813:G534E	ENSP00000230510:G533E	G	+	2	0	TTK	80797982	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.300000	0.96151	2.597000	0.87782	0.561000	0.74099	GGA		0.279	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80741263	G	A	80741263	3	1	123	1	0	0	0	0	1	0	0	0	16717	1174	41	3	1651	3	TTK	6	80741263	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	9737256	80741263	90373804	34	8443											
TMEM181	57583	broad.mit.edu	37	chr6	159050767	159050767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgacagcaccaccagccGagttcttatctttctatggc	8	12	7	14	1	3	1	0	1	3	0	3	2	3	1	4	1	2	2	4	1	2	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:159050767G>A	ENST00000367090.3	+	15	1620	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	537					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ACCACCAGCCGAGTTCTTATC	0.542																																						uc003qrm.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1609-1611)Gag>Aag		Homo sapiens transmembrane protein 181 (TMEM181), mRNA.							171	172	172					6																	159050767		1974	4156	6130	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159050767G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1609G>A	6.37:g.159050767G>A	ENSP00000356057:p.Glu537Lys						p.E537K	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	14	1620	+		Breast(66;0.000776)|Ovarian(120;0.0303)	537					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1609G>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659579	0.96734	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.45668	0.89	6.17	6.17	0.99709	.	0.088877	0.85682	D	0.000000	T	0.49575	0.1565	M	0.74881	2.28	0.80722	D	1	D	0.65815	0.995	P	0.59357	0.856	T	0.44174	-0.9345	10	0.07175	T	0.84	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	537	Q9P2C4	TM181_HUMAN	K	444;537	ENSP00000356057:E537K	ENSP00000323755:E444K	E	+	1	0	TMEM181	158970755	1.000000	0.71417	0.748000	0.31131	0.990000	0.78478	7.844000	0.86867	2.941000	0.99782	0.655000	0.94253	GAG		0.542	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		A	159050767	G	A	159050767	3	1	123	1	0	0	0	0	1	0	0	0	16097	1059	37	2	1667	2	TMEM181	6	159050767	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	78309504	159050767	12064300	35	8444											
FKBP9	11328	broad.mit.edu	37	chr7	33044873	33044873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgattgtgaagaatatGttcaccaaccaggaccggaa	14	8	11	8	1	1	3	1	2	0	1	1	6	1	5	3	2	2	2	3	2	5	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:33044873G>A	ENST00000242209.4	+	10	1792	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	FKBP9_ENST00000538443.1_Missense_Mutation_p.M403I|FKBP9_ENST00000490776.2_Missense_Mutation_p.M309I|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.M594I	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	541	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGAAGAATATGTTCACCAACC	0.493																																						uc011kal.2																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1780-1782)atG>atA		Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.							130	100	110					7																	33044873		2203	4298	6501	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33044873G>A	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1623G>A	7.37:g.33044873G>A	ENSP00000242209:p.Met541Ile					AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.M541I|FKBP9_uc011kam.2_Missense_Mutation_p.M309I	p.M594I	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		10	1963	+			541					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1782G>A	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381425	0.82792	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.07	5.07	0.68467	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.64170	1.965	0.80722	D	1	P;D;D	0.61080	0.828;0.989;0.97	P;D;P	0.68483	0.542;0.958;0.77	T	0.66913	-0.5803	10	0.48119	T	0.1	-19.7043	18.4683	0.90763	0.0:0.0:1.0:0.0	.	309;594;541	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	I	541;594;403;309	ENSP00000242209:M541I;ENSP00000439250:M594I;ENSP00000437504:M403I;ENSP00000441317:M309I	ENSP00000242209:M541I	M	+	3	0	FKBP9	33011398	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.751000	0.98889	2.371000	0.80710	0.555000	0.69702	ATG		0.493	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33044873	G	A	33044873	3	1	123	1	0	0	0	0	1	0	0	0	5915	1377	48	3	1661	3	FKBP9	7	33044873	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		33044873	126093790	36	8445											
STK17A	9263	broad.mit.edu	37	chr7	43622866	43622866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctttggagaagccaggCagcggcggctcctccccagg	7	6	13	15	2	0	1	0	0	0	1	3	2	3	1	5	5	2	2	5	5	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:43622866C>T	ENST00000319357.5	+	1	203	c.24C>T	c.(22-24)ggC>ggT	p.G8G	STK17A_ENST00000462448.1_Intron	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	8					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AGAAGCCAGGCAGCGGCGGCT	0.766																																						uc003tih.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(22-24)ggC>ggT		Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.							13	16	15					7																	43622866		2174	4250	6424	SO:0001819	synonymous_variant	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43622866C>T	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.24C>T	7.37:g.43622866C>T							p.G8G	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN			0	175	+			8					A4D1V6|Q8IVC8	Silent	SNP	ENST00000319357.5	37	c.24C>T	CCDS5470.1																																																																																				0.766	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		T	43622866	C	T	43622866	2	4	123	1	0	0	0	0	0	0	0	1	15289	697	25	3		3	STK17A	7	43622866	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	10577993	43622866	115515797	37	8446											
SLC26A5	375611	broad.mit.edu	37	chr7	103048353	103048353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctttaaatctctcattaAactccttgccacccaacagc	11	13	2	15	0	3	0	1	0	2	0	6	0	4	0	3	0	4	0	3	0	5	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:103048353A>T	ENST00000306312.3	-	8	1094	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	SLC26A5_ENST00000393729.1_Missense_Mutation_p.F241Y|SLC26A5_ENST00000393723.1_Missense_Mutation_p.F278Y|SLC26A5_ENST00000432958.2_Missense_Mutation_p.F278Y|SLC26A5_ENST00000339444.6_Missense_Mutation_p.F278Y|SLC26A5_ENST00000393735.2_Missense_Mutation_p.F278Y|SLC26A5_ENST00000393727.1_Missense_Mutation_p.F278Y|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Missense_Mutation_p.F278Y|SLC26A5_ENST00000356767.4_Missense_Mutation_p.F278Y	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	278					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCTCATTAAACTCCTTGCC	0.468																																						uc003vbz.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(832-834)tTt>tAt		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							96	92	94					7																	103048353		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103048353A>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.833T>A	7.37:g.103048353A>T	ENSP00000304783:p.Phe278Tyr					SLC26A5_uc003vbt.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F278Y	p.F278Y	NM_198999	NP_945350	P58743	S26A5_HUMAN			7	1095	-			278					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.833T>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119319	0.94385	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.36	5.36	0.76844	Sulphate transporter (1);	0.118823	0.64402	D	0.000014	D	0.92612	0.7653	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.59767	0.96;0.98;0.976;0.986;0.975	P;P;P;P;P	0.55667	0.745;0.781;0.628;0.674;0.674	D	0.93856	0.7149	10	0.87932	D	0	.	15.6584	0.77162	1.0:0.0:0.0:0.0	.	278;278;278;278;278	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	Y	278;278;278;278;278;278;241;278;278	ENSP00000342396:F278Y;ENSP00000349210:F278Y;ENSP00000377336:F278Y;ENSP00000304783:F278Y;ENSP00000377331:F278Y;ENSP00000389733:F278Y;ENSP00000377330:F241Y;ENSP00000377328:F278Y;ENSP00000377324:F278Y	ENSP00000304783:F278Y	F	-	2	0	SLC26A5	102835589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.535000	0.90623	2.160000	0.67779	0.528000	0.53228	TTT		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		T	103048353	A	T	103048353	3	4	123	1	0	0	0	0	1	0	0	0	14520	14	1	5	1494	5	SLC26A5	7	103048353	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	59425487	103048353	56090310	38	8447											
CFTR	1080	broad.mit.edu	37	chr7	117306983	117306983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaagagaacaaagtgCggcagtacgattccatccag	15	7	10	9	2	1	2	1	0	0	2	3	4	3	2	2	1	3	2	2	1	5	3	rs373172017		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:117306983C>T	ENST00000003084.6	+	27	4396	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	CFTR_ENST00000454343.1_Missense_Mutation_p.R1361W	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAACAAAGTGCGGCAGTACGA	0.552									Cystic Fibrosis																													uc003vjd.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM972965	CFTR	M		c.(4264-4266)Cgg>Tgg		Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	Bumetanide(DB00887)|Glibenclamide(DB01016)	C	TRP/ARG	0,4406		0,0,2203	58	50	53		4264	3.6	1	7		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	CFTR	NM_000492.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1422/1481	117306983	1,13005	2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117306983C>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4264C>T	7.37:g.117306983C>T	ENSP00000003084:p.Arg1422Trp					CFTR_uc011knq.2_Missense_Mutation_p.R828W	p.R1422W	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		26	4396	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1422			ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.4264C>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462107	0.43736	0.0	1.16E-4	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90563	-2.69;-2.69;-2.69	5.47	3.6	0.41247	ABC transporter-like (1);	0.108387	0.64402	N	0.000006	D	0.86506	0.5949	L	0.54323	1.7	0.42338	D	0.992328	B	0.18461	0.028	B	0.11329	0.006	T	0.81195	-0.1043	10	0.46703	T	0.11	-5.3826	8.847	0.35177	0.3457:0.5827:0.0:0.0716	.	1422	P13569	CFTR_HUMAN	W	1422;1361;1392	ENSP00000003084:R1422W;ENSP00000403677:R1361W;ENSP00000389119:R1392W	ENSP00000003084:R1422W	R	+	1	2	CFTR	117094219	0.998000	0.40836	0.998000	0.56505	0.943000	0.58893	0.576000	0.23744	0.733000	0.32492	0.557000	0.71058	CGG		0.552	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		T	117306983	C	T	117306983	3	4	123	1	0	0	0	0	1	0	0	0	3294	759	27	1	4370	1	CFTR	7	117306983	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	14258630	117306983	41831680	39	8448											
KIAA1549	57670	broad.mit.edu	37	chr7	138546043	138546043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgggggccacgaGggcaaaggcgtcgtccagga	7	5	18	11	3	0	0	0	0	0	0	2	2	1	1	2	6	1	3	2	6	1	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:138546043G>C	ENST00000422774.1	-	16	5137	c.5089C>G	c.(5089-5091)Ctc>Gtc	p.L1697V	KIAA1549_ENST00000242365.4_Missense_Mutation_p.L1647V|KIAA1549_ENST00000440172.1_Missense_Mutation_p.L1697V			Q9HCM3	K1549_HUMAN	KIAA1549	1697						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGCCACGAGGGCAAAGGCG	0.697			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5089-5091)Ctc>Gtc		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							39	49	45					7																	138546043		2104	4202	6306	SO:0001583	missense	57670					integral to membrane		g.chr7:138546043G>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5089C>G	7.37:g.138546043G>C	ENSP00000416040:p.Leu1697Val					KIAA1549_uc011kqi.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqk.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1697V	p.L1697V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN			15	5138	-			1697					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5089C>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044571	0.75732	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.65364	-0.13;-0.12;-0.15	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.87578	0.998;0.996;0.997;0.996	T	0.82684	-0.0335	10	0.87932	D	0	.	16.9444	0.86227	0.0:0.0:1.0:0.0	.	1697;481;1697;481	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	V	1697;1647;1697	ENSP00000406661:L1697V;ENSP00000242365:L1647V;ENSP00000416040:L1697V	ENSP00000242365:L1647V	L	-	1	0	KIAA1549	138196583	1.000000	0.71417	0.996000	0.52242	0.855000	0.48748	5.997000	0.70646	2.542000	0.85734	0.563000	0.77884	CTC		0.697	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			C	138546043	G	C	138546043	3	2	123	1	0	0	0	0	1	0	0	0	8244	1000	35	5	783	5	KIAA1549	7	138546043	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	21239060	138546043	20592620	40	8449											
PARP12	64761	broad.mit.edu	37	chr7	139727128	139727128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcgctcaatcttctgaaCaaagtagaaaggcagcgtgc	13	9	9	10	2	3	2	1	1	2	1	4	2	3	2	0	1	4	3	0	1	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:139727128C>A	ENST00000263549.3	-	10	2449	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	526	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTTCTGAACAAAGTAGAAA	0.512																																						uc003vvl.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1576-1578)Gtt>Ttt		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.							99	91	94					7																	139727128		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139727128C>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1576G>T	7.37:g.139727128C>A	ENSP00000263549:p.Val526Phe					PARP12_uc010lnf.1_Non-coding_Transcript	p.V526F	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			9	2450	-	Melanoma(164;0.0142)		526			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1576G>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505220	0.96371	.	.	ENSG00000059378	ENST00000263549	T	0.19394	2.15	5.6	-1.68	0.08212	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.298295	0.34802	N	0.003662	T	0.35770	0.0943	M	0.80183	2.485	0.34557	D	0.711933	D	0.58620	0.983	P	0.55222	0.771	T	0.55237	-0.8172	10	0.87932	D	0	.	11.3819	0.49763	0.0:0.208:0.0:0.792	.	526	Q9H0J9	PAR12_HUMAN	F	526	ENSP00000263549:V526F	ENSP00000263549:V526F	V	-	1	0	PARP12	139373597	0.716000	0.27956	0.019000	0.16419	0.997000	0.91878	1.207000	0.32333	-0.209000	0.10156	0.655000	0.94253	GTT		0.512	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		A	139727128	C	A	139727128	3	1	123	1	0	0	0	0	1	0	0	0	11457	478	17	5	541	5	PARP12	7	139727128	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1181085	139727128	19411535	41	8450											
OR2A14	135941	broad.mit.edu	37	chr7	143826811	143826811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcatctttgcagcctgCgtgttcatcctggtggggcc	3	13	14	11	1	3	0	2	0	1	0	4	0	4	0	3	4	3	2	3	4	0	2	rs571103587	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:143826811C>T	ENST00000408899.2	+	1	661	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TTGCAGCCTGCGTGTTCATCC	0.577													C|||	7	0.00139776	0	0	5008	,	,		20242	0		0	False		,,,				2504	0.0072					uc011kua.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(604-606)tgC>tgT		Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.							153	159	157					7																	143826811		2039	4195	6234	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826811C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.606C>T	7.37:g.143826811C>T							p.C202C	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			0	606	+	Melanoma(164;0.0783)		202					Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.606C>T	CCDS43672.1																																																																																				0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			T	143826811	C	T	143826811	2	4	123	1	0	0	0	0	0	0	0	1	10976	776	27	1		1	OR2A14	7	143826811	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	4099683	143826811	15311852	42	8451											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092850	147092850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttcgcgaatgtcagcattGacatgtgtgcgatcatagac	10	12	11	8	3	2	2	2	1	0	1	3	4	2	2	0	0	2	2	0	0	2	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:147092850G>C	ENST00000361727.3	+	10	2164	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	550	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D550N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTCAGCATTGACATGTGTGC	0.428										HNSCC(39;0.1)																												uc003weu.2																			1	Substitution - Missense(1)	p.D550N(2)	lung(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1648-1650)Gac>Cac		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							154	136	142					7																	147092850		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092850G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1648G>C	7.37:g.147092850G>C	ENSP00000354778:p.Asp550His	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.D550H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	2164	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	550			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1648G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599664	0.87055	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000002	D	0.89015	0.6595	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.90234	0.4281	10	0.59425	D	0.04	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	550	Q9UHC6	CNTP2_HUMAN	H	550	ENSP00000354778:D550H	ENSP00000354778:D550H	D	+	1	0	CNTNAP2	146723783	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			C	147092850	G	C	147092850	3	2	123	1	0	0	0	0	1	0	0	0	3647	1290	45	5	1686	5	CNTNAP2	7	147092850	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	3266039	147092850	12045813	43	8452											
DLC1	10395	broad.mit.edu	37	chr8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaagacaaatttactcGtgtctgatttactgaaatgg	13	13	9	6	1	2	4	1	2	1	2	3	4	2	4	0	1	2	0	0	1	5	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:13251148G>A	ENST00000276297.4	-	4	1637	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.R410*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.R410*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	410					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R410L(3)|p.R410*(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423																																						uc003wwm.2																			5	Substitution - Missense(3)|Substitution - Nonsense(2)	p.R410L(4)|p.R410*(3)	lung(3)|large_intestine(2)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1228-1230)Cga>Tga		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							163	152	156					8																	13251148		2203	4300	6503	SO:0001587	stop_gained	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251148G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1228C>T	8.37:g.13251148G>A	ENSP00000276297:p.Arg410*					DLC1_uc003wwn.3_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.2_Nonsense_Mutation_p.R410*	p.R410*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			3	1672	-			410					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	ENST00000276297.4	37	c.1228C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488499	0.96323	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	4.78	3.89	0.44902	.	1.162670	0.06418	N	0.721807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.0033	0.58690	0.0:0.0:0.8382:0.1618	.	.	.	.	X	410	.	ENSP00000276297:R410X	R	-	1	2	DLC1	13295519	0.269000	0.24143	0.003000	0.11579	0.365000	0.29674	2.706000	0.47135	1.347000	0.45714	0.650000	0.86243	CGA		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		A	13251148	G	A	13251148	4	1	123	1	0	0	0	0	0	1	0	0	4550	1153	40	1	3503	1	DLC1	8	13251148	Nonsense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		13251148	133112874	44	8453											
MTUS1	57509	broad.mit.edu	37	chr8	17573333	17573333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggataccaaaggcttcaaatAaaaggatcctgaggaaccat	17	7	9	8	0	1	1	1	1	0	0	2	4	2	4	3	4	2	1	3	4	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:17573333A>G	ENST00000262102.6	-	5	2751	c.2527T>C	c.(2527-2529)Tat>Cat	p.Y843H	MTUS1_ENST00000519263.1_Missense_Mutation_p.Y789H|MTUS1_ENST00000381869.3_Missense_Mutation_p.Y789H|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.Y90H	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	843					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428																																						uc003wxv.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2527-2529)Tat>Cat		Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.							157	152	154					8																	17573333		1835	4086	5921	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17573333A>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2527T>C	8.37:g.17573333A>G	ENSP00000262102:p.Tyr843His					MTUS1_uc003wxt.3_Missense_Mutation_p.Y90H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.Y789H	p.Y843H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	4	3001	-			843					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2527T>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073566	0.55646	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.35421	3.2;2.47;1.31;3.2	4.85	4.85	0.62838	.	0.617024	0.17519	N	0.171310	T	0.45617	0.1351	M	0.63428	1.95	0.09310	N	0.999997	D;D;P	0.61080	0.989;0.989;0.857	P;P;P	0.56700	0.804;0.804;0.51	T	0.32613	-0.9900	10	0.22109	T	0.4	-3.992	8.2479	0.31700	0.86:0.0:0.14:0.0	.	789;843;90	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	H	789;90;843;789	ENSP00000371293:Y789H;ENSP00000371285:Y90H;ENSP00000262102:Y843H;ENSP00000430167:Y789H	ENSP00000262102:Y843H	Y	-	1	0	MTUS1	17617613	0.052000	0.20516	0.781000	0.31783	0.996000	0.88848	1.528000	0.35985	2.120000	0.65058	0.533000	0.62120	TAT		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		G	17573333	A	G	17573333	3	3	123	1	0	0	0	0	1	0	0	0	9965	362	13	4	1454	4	MTUS1	8	17573333	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	4322185	17573333	128790689	45	8454											
ATAD2	29028	broad.mit.edu	37	chr8	124382139	124382139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgattctcttcttctccatCttcttcatcttcatcatctt	5	21	1	14	0	10	1	3	1	7	0	12	1	10	1	1	0	0	0	1	0	0	7			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:124382139C>T	ENST00000287394.5	-	7	960	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	285	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcttctccatcttcttcatct	0.358																																						uc003yqh.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(853-855)Gat>Aat		Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.							283	220	242					8																	124382139		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382139C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.853G>A	8.37:g.124382139C>T	ENSP00000287394:p.Asp285Asn					ATAD2_uc011lii.2_Missense_Mutation_p.D76N|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D285N	p.D285N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	961	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		285			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.853G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459834	0.63401	.	.	ENSG00000156802	ENST00000287394	T	0.14516	2.5	4.67	4.67	0.58626	.	1.343780	0.05592	U	0.574900	T	0.18509	0.0444	N	0.19112	0.55	0.80722	D	1	P;P	0.52577	0.943;0.954	P;P	0.50082	0.63;0.535	T	0.24835	-1.0149	10	0.24483	T	0.36	-3.4778	16.9975	0.86372	0.0:1.0:0.0:0.0	.	115;285	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	N	285	ENSP00000287394:D285N	ENSP00000287394:D285N	D	-	1	0	ATAD2	124451320	1.000000	0.71417	0.978000	0.43139	0.442000	0.32017	6.015000	0.70791	2.523000	0.85059	0.561000	0.74099	GAT		0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		T	124382139	C	T	124382139	3	4	123	1	0	0	0	0	1	0	0	0	1071	913	32	3	3407	3	ATAD2	8	124382139	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	106808806	124382139	21981883	46	8455											
FREM1	158326	broad.mit.edu	37	chr9	14789086	14789086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgcatttcatgccaggGgagagaggaacccagtccct	10	8	13	10	0	1	2	1	1	0	1	2	5	2	4	3	3	3	1	3	3	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:14789086G>A	ENST00000380880.3	-	23	4791	c.4008C>T	c.(4006-4008)tcC>tcT	p.S1336S	FREM1_ENST00000380881.4_Silent_p.S1337S|FREM1_ENST00000422223.2_Silent_p.S1336S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1336					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATGCCAGGGGAGAGAGGAA	0.493																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4006-4008)tcC>tcT		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							60	61	61					9																	14789086		1945	4150	6095	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14789086G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4008C>T	9.37:g.14789086G>A						FREM1_uc010mic.3_Intron	p.S1336S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	23	4824	-			1336					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4008C>T	CCDS47952.1																																																																																				0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14789086	G	A	14789086	2	1	123	1	0	0	0	0	0	0	0	1	6044	1219	43	3		3	FREM1	9	14789086	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08		14789086	126424345	47	8456											
TEK	7010	broad.mit.edu	37	chr9	27205000	27205000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgctgttggcctttctGatcatattgcaattgaagag	9	15	10	7	0	2	3	1	2	1	1	2	3	2	3	1	1	2	3	1	1	3	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:27205000G>A	ENST00000380036.4	+	14	2743	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	TEK_ENST00000406359.4_Silent_p.L724L|TEK_ENST00000519097.1_Silent_p.L620L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	767					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGGCCTTTCTGATCATATTGC	0.517																																						uc011lno.2																			0		p.P723T(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2170-2172)ctG>ctA		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							151	118	129					9																	27205000		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27205000G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2301G>A	9.37:g.27205000G>A						TEK_uc003zqi.4_Silent_p.L767L|TEK_uc011lnp.2_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	p.L724L	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	12	2614	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	767		A -> T (in dbSNP:rs4631561).	Fibronectin type-III 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.2172G>A	CCDS6519.1																																																																																				0.517	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			A	27205000	G	A	27205000	2	1	123	1	0	0	0	0	0	0	0	1	15748	1277	45	3		3	TEK	9	27205000	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	12415914	27205000	114008431	48	8457											
UBAP1	51271	broad.mit.edu	37	chr9	34234331	34234331	+	Frame_Shift_Del	DEL	A	A	-																															ttgtttgcaggttgtcagagAagtacaggtaagtggtaatt																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:34234331delA	ENST00000297661.4	+	3	387	c.152delA	c.(151-153)gaafs	p.E51fs	UBAP1_ENST00000536252.1_Frame_Shift_Del_p.E51fs|UBAP1_ENST00000545103.1_Frame_Shift_Del_p.E115fs|UBAP1_ENST00000543944.1_Intron|UBAP1_ENST00000379186.4_Frame_Shift_Del_p.E51fs|UBAP1_ENST00000359544.2_Frame_Shift_Del_p.E51fs|UBAP1_ENST00000540348.1_Frame_Shift_Del_p.E51fs	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	51	UMA. {ECO:0000255|PROSITE- ProRule:PRU00830}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTTGTCAGAGAAGTACAGGTA	0.338																																					NSCLC(109;1074 1634 14978 20375 39620)	uc022bfy.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(151-153)gaafs		Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.							111	107	109					9																	34234331		2203	4300	6503	SO:0001589	frameshift_variant	51271					cytoplasm		g.chr9:34234331delA	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.152delA	9.37:g.34234331delA	ENSP00000297661:p.Glu51fs					UBAP1_uc010mka.2_Intron|UBAP1_uc003zty.3_Frame_Shift_Del_p.E51fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.E51fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.E51fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.E115fs|UBAP1_uc011loi.2_Intron|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.E51fs	p.E51fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		3	550	+			51			UMA.		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Frame_Shift_Del	DEL	ENST00000297661.4	37	c.152delA	CCDS6550.1																																																																																				0.338	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			-	34234331	A	-	34234331	7	5	123	1	0	1	0	1	0	0	0	0	16833	246	9	0	395	0	UBAP1	9	34234331	Frame_Shift_Del	DEL	A	TCGA-12-5295-01A-01D-1486-08	7029331	34234331	106979100	49	8458											
VPS13A	23230	broad.mit.edu	37	chr9	79985216	79985216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgtggaaggaatggcacTaggacttaaggcactagttg	11	11	14	5	0	0	0	0	0	0	0	0	3	0	3	0	5	0	4	0	5	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:79985216T>C	ENST00000360280.3	+	64	8971	c.8711T>C	c.(8710-8712)cTa>cCa	p.L2904P	VPS13A_ENST00000376636.3_Missense_Mutation_p.L2865P|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2904P|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2904P	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2904					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAATGGCACTAGGACTTAAG	0.383																																						uc004akr.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8710-8712)cTa>cCa		Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.							98	95	96					9																	79985216		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79985216T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8711T>C	9.37:g.79985216T>C	ENSP00000353422:p.Leu2904Pro					VPS13A_uc004akp.4_Missense_Mutation_p.L2904P|VPS13A_uc004akq.4_Missense_Mutation_p.L2904P|VPS13A_uc004aks.3_Missense_Mutation_p.L2865P	p.L2904P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			63	8971	+			2904					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8711T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702112	0.68501	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50548	0.92;0.74;0.83;0.9	5.59	5.59	0.84812	.	0.208117	0.41823	D	0.000804	T	0.71913	0.3396	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.99;0.994;0.994	T	0.76141	-0.3068	9	.	.	.	.	15.7726	0.78184	0.0:0.0:0.0:1.0	.	2865;2904;2904;2904	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	P	2904;2865;2904;2904	ENSP00000365821:L2904P;ENSP00000365823:L2865P;ENSP00000353422:L2904P;ENSP00000349985:L2904P	.	L	+	2	0	VPS13A	79175036	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	7.673000	0.83973	2.133000	0.65898	0.383000	0.25322	CTA		0.383	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79985216	T	C	79985216	3	2	123	1	0	0	0	0	1	0	0	0	17186	1522	53	4	8965	4	VPS13A	9	79985216	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	45750885	79985216	61228215	50	8459											
BTAF1	9044	broad.mit.edu	37	chr10	93756207	93756207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatggctgctcgttgtgtaGgtgtcatgagcaaaatagct	10	12	12	7	1	1	1	1	1	0	0	2	1	1	1	0	2	3	6	0	2	4	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:93756207G>A	ENST00000265990.6	+	24	3699	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S	BTAF1_ENST00000544642.1_De_novo_Start_OutOfFrame	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1131					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGTTGTGTAGGTGTCATGAG	0.423																																						uc001khr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3391-3393)Ggt>Agt		Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.							140	123	128					10																	93756207		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93756207G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3391G>A	10.37:g.93756207G>A	ENSP00000265990:p.Gly1131Ser					BTAF1_uc001kht.1_Missense_Mutation_p.G569S	p.G1131S	NM_003972	NP_003963	O14981	BTAF1_HUMAN			23	3489	+		Colorectal(252;0.0846)	1131					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.3391G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063214	0.76187	.	.	ENSG00000095564	ENST00000265990	T	0.65549	-0.16	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	L	0.39020	1.185	0.80722	D	1	P;P	0.42871	0.792;0.792	B;B	0.41466	0.358;0.358	T	0.62101	-0.6925	10	0.62326	D	0.03	-14.1685	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1131;1131	Q2M1V9;O14981	.;BTAF1_HUMAN	S	1131	ENSP00000265990:G1131S	ENSP00000265990:G1131S	G	+	1	0	BTAF1	93746187	1.000000	0.71417	0.922000	0.36590	0.962000	0.63368	7.809000	0.86057	2.941000	0.99782	0.655000	0.94253	GGT		0.423	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		A	93756207	G	A	93756207	3	1	123	1	0	0	0	0	1	0	0	0	1536	1000	35	3	3485	3	BTAF1	10	93756207	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		93756207	41778540	51	8460											
CYP2C18	1562	broad.mit.edu	37	chr10	96447958	96447958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgcggaattttgggatGgggaagaggagcatcgagga	11	8	17	5	2	1	1	0	0	1	1	2	7	1	6	0	6	2	1	0	6	2	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:96447958G>A	ENST00000285979.6	+	3	607	c.408G>A	c.(406-408)atG>atA	p.M136I	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.M136I	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	136					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	ATTTTGGGATGGGGAAGAGGA	0.478																																						uc001kjv.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(406-408)atG>atA		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						124	116	119					10																	96447958		2203	4300	6503	SO:0001583	missense	1562				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96447958G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.408G>A	10.37:g.96447958G>A	ENSP00000285979:p.Met136Ile					CYP2C19_uc001kjw.4_Missense_Mutation_p.M136I|CYP2C19_uc009xus.1_Missense_Mutation_p.M1I|CYP2C19_uc010qny.2_5'UTR	p.M136I	NM_000772	NP_000763	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	2	734	+		Colorectal(252;0.09)	136					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.408G>A	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	17.26	3.343398	0.61073	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.11385	2.78;2.78	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	T	0.23532	0.0569	M	0.78223	2.4	0.80722	D	1	P;P	0.40794	0.566;0.729	B;P	0.46510	0.438;0.519	T	0.02326	-1.1176	10	0.66056	D	0.02	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	136;136	Q4VAT5;P33260	.;CP2CI_HUMAN	I	136	ENSP00000341293:M136I;ENSP00000285979:M136I	ENSP00000285979:M136I	M	+	3	0	CYP2C18	96437948	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	8.615000	0.90920	2.105000	0.64084	0.306000	0.20318	ATG		0.478	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		A	96447958	G	A	96447958	3	1	123	1	0	0	0	0	1	0	0	0	4165	1348	47	3	418	3	CYP2C18	10	96447958	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	2691751	96447958	39086789	52	8461											
TDRD1	56165	broad.mit.edu	37	chr10	115947725	115947725	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctttaagaagtcctggAacacttcctaaccaccctaa	13	10	6	12	0	1	1	0	0	1	1	3	3	3	2	4	1	2	0	4	1	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:115947725A>G	ENST00000369280.1	+	2	595	c.135A>G	c.(133-135)ggA>ggG	p.G45G	TDRD1_ENST00000369282.1_Silent_p.G45G|TDRD1_ENST00000369281.2_Silent_p.G45G|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Silent_p.G45G			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	45					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGTCCTGGAACACTTCCTA	0.358																																						uc001lbg.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(133-135)ggA>ggG		Homo sapiens tudor domain containing 1 (TDRD1), mRNA.							108	112	111					10																	115947725		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115947725A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.135A>G	10.37:g.115947725A>G						TDRD1_uc001lbf.3_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	p.G45G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	1	288	+		Colorectal(252;0.172)|Breast(234;0.188)	45					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.135A>G																																																																																					0.358	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			G	115947725	A	G	115947725	2	3	123	1	0	0	0	0	0	0	0	1	15727	233	9	4		4	TDRD1	10	115947725	Silent	SNP	A	TCGA-12-5295-01A-01D-1486-08	19499767	115947725	19587022	53	8462											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G																															tacagcagctggactgggagCagctgggcttgcagcagctg																								rs548851553		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													c|||	1	0.000199681	0	0	5008	,	,		16593	0		0	False		,,,				2504	0.001					uc001ltw.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tCc		Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.							130	142	138					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.464G>C	11.37:g.1629152C>G	ENSP00000382592:p.Cys155Ser					MOB2_uc001ltq.2_Intron	p.C155S	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	0	542	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226901	0.22542	.	.	ENSG00000196224	ENST00000399685	T	0.01527	4.8	3.33	3.33	0.38152	.	.	.	.	.	T	0.09598	0.0236	M	0.83012	2.62	0.33018	D	0.528479	D	0.65815	0.995	D	0.63793	0.918	T	0.04976	-1.0914	9	0.62326	D	0.03	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	S	155	ENSP00000382592:C155S	ENSP00000382592:C155S	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			G	1629152	C	G	1629152	3	3	123	1	0	0	0	0	1	0	0	0	8562	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		1629152	133377364	54	8463	12	2									
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A																															gcagctggactgggagcagcTgggcttgcagcagctggact																								rs75371407		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						uc001ltw.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.							127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys					MOB2_uc001ltq.2_Intron	p.S154C	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	0	538	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			A	1629156	T	A	1629156	3	1	123	1	0	0	0	0	1	0	0	0	8562	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	4	1629156	133377360	55	8464	12	2									
OR51G1	79324	broad.mit.edu	37	chr11	4945317	4945317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatcaaaccagaaaatgcCcagcacagtgggcagtgtgg	13	6	13	9	0	1	1	1	0	0	1	1	1	1	1	2	3	3	3	2	3	4	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:4945317C>T	ENST00000321961.2	-	1	320	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAAAATGCCCAGCACAGTG	0.483																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(253-255)Ggc>Agc		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.							87	80	82					11																	4945317		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945317C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.253G>A	11.37:g.4945317C>T	ENSP00000322546:p.Gly85Ser						p.G85S	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	253	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	85					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.253G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783190	0.16189	.	.	ENSG00000176879	ENST00000321961	T	0.00330	8.08	4.2	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.404278	0.18219	U	0.147951	T	0.00178	0.0005	N	0.25060	0.705	0.22156	N	0.999327	B	0.29590	0.25	B	0.25506	0.061	T	0.41466	-0.9507	10	0.39692	T	0.17	.	6.878	0.24156	0.0:0.8018:0.0:0.1982	.	85	Q8NGK1	O51G1_HUMAN	S	85	ENSP00000322546:G85S	ENSP00000322546:G85S	G	-	1	0	OR51G1	4901893	0.000000	0.05858	0.994000	0.49952	0.381000	0.30169	-0.443000	0.06862	2.169000	0.68431	0.557000	0.71058	GGC		0.483	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		T	4945317	C	T	4945317	3	4	123	1	0	0	0	0	1	0	0	0	11098	623	22	3	714	3	OR51G1	11	4945317	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	3316161	4945317	130061199	56	8465											
OR10A6	390093	broad.mit.edu	37	chr11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacagatgtgaggtgagCggcacaggtggaaaaggcct	11	6	17	7	1	1	3	1	2	0	1	1	4	1	4	1	6	1	1	1	6	2	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:7949483C>T	ENST00000309838.2	-	1	726	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453																																						uc010rbh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(727-729)Gct>Act		Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.							128	115	119					11																	7949483		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949483C>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.727G>A	11.37:g.7949483C>T	ENSP00000312470:p.Ala243Thr						p.A243T	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	727	-			243					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.727G>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091944	0.36952	.	.	ENSG00000175393	ENST00000309838	T	0.37235	1.21	4.42	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.161551	0.28927	N	0.013686	T	0.32556	0.0833	L	0.53671	1.685	0.23320	N	0.997916	B	0.16603	0.018	B	0.15484	0.013	T	0.32107	-0.9919	10	0.72032	D	0.01	.	9.7112	0.40247	0.8247:0.1753:0.0:0.0	.	243	Q8NH74	O10A6_HUMAN	T	243	ENSP00000312470:A243T	ENSP00000312470:A243T	A	-	1	0	OR10A6	7906059	0.937000	0.31787	1.000000	0.80357	0.974000	0.67602	2.024000	0.41049	0.833000	0.34828	-0.272000	0.10252	GCT		0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		T	7949483	C	T	7949483	3	4	123	1	0	0	0	0	1	0	0	0	10894	768	27	1	220	1	OR10A6	11	7949483	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	3004166	7949483	127057033	57	8466											
KCNA4	3739	broad.mit.edu	37	chr11	30033870	30033870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcactcagctccCtcaggatcttctcctcagag	6	11	5	19	0	6	1	4	0	2	1	10	2	9	2	5	1	1	1	5	1	0	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:30033870C>T	ENST00000328224.6	-	2	1589	c.356G>A	c.(355-357)aGg>aAg	p.R119K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	119					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACTCAGCTCCCTCAGGATCTT	0.542																																						uc021qfi.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(355-357)aGg>aAg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							27	28	28					11																	30033870		2155	4272	6427	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033870C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.356G>A	11.37:g.30033870C>T	ENSP00000328511:p.Arg119Lys					KCNA4_uc001msk.3_Missense_Mutation_p.R119K	p.R119K	NM_002233	NP_002224	P22459	KCNA4_HUMAN			0	356	-			119						Missense_Mutation	SNP	ENST00000328224.6	37	c.356G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	8.580	0.881991	0.17467	.	.	ENSG00000182255	ENST00000328224	D	0.96265	-3.96	4.73	1.82	0.25136	.	2.266170	0.03057	U	0.155393	D	0.90177	0.6930	N	0.12182	0.205	0.21064	N	0.999792	B	0.02656	0.0	B	0.01281	0.0	T	0.82277	-0.0537	10	0.11794	T	0.64	.	6.052	0.19790	0.0:0.6793:0.0:0.3207	.	119	P22459	KCNA4_HUMAN	K	119	ENSP00000328511:R119K	ENSP00000328511:R119K	R	-	2	0	KCNA4	29990446	1.000000	0.71417	0.011000	0.14972	0.991000	0.79684	1.782000	0.38654	0.430000	0.26230	0.561000	0.74099	AGG		0.542	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		T	30033870	C	T	30033870	3	4	123	1	0	0	0	0	1	0	0	0	8005	681	24	3	1609	3	KCNA4	11	30033870	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	22084387	30033870	104972646	58	8467											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349460	65349460	+	Frame_Shift_Del	DEL	A	A	-																															agacatgtggacactaagggAccagaggcgacaggggtgat																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:65349460delA	ENST00000309295.4	+	9	1582	c.1317delA	c.(1315-1317)ggafs	p.G439fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	439						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACACTAAGGGACCAGAGGCGA	0.597																																						uc001oeo.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1315-1317)ggafs		Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.							75	85	82					11																	65349460		2130	4239	6369	SO:0001589	frameshift_variant	254102							g.chr11:65349460delA	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1317delA	11.37:g.65349460delA	ENSP00000312671:p.Gly439fs						p.G439fs	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN			8	1582	+			439					Q8TB89|Q9H7M7	Frame_Shift_Del	DEL	ENST00000309295.4	37	c.1317delA	CCDS44649.1																																																																																				0.597	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		-	65349460	A	-	65349460	7	5	123	1	0	1	0	1	0	0	0	0	4976	262	10	0	1351	0	EHBP1L1	11	65349460	Frame_Shift_Del	DEL	A	TCGA-12-5295-01A-01D-1486-08	35315590	65349460	69657056	59	8468											
ODZ4	26011	broad.mit.edu	37	chr11	78380300	78380300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagcaagaggggtccCgatgttgtcacaagctatgt	13	8	12	8	1	1	2	1	0	0	2	2	3	2	2	1	2	2	3	1	2	4	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:78380300C>T	ENST00000278550.7	-	32	7552	c.7090G>A	c.(7090-7092)Ggg>Agg	p.G2364R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2364					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGAGGGGTCCCGATGTTGTCA	0.483																																						uc001ozl.4																			0		p.G2364V(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7090-7092)Ggg>Agg		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							109	111	111					11																	78380300		2015	4180	6195	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380300C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7090G>A	11.37:g.78380300C>T	ENSP00000278550:p.Gly2364Arg					ODZ4_uc001ozk.4_Missense_Mutation_p.G589R	p.G2364R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	7553	-			2364					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7090G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112507	0.77210	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.96365	-3.99;-0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99544	1.0964	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2364	Q6N022	TEN4_HUMAN	R	2364;828	ENSP00000278550:G2364R;ENSP00000431711:G828R	.	G	-	1	0	ODZ4	78057948	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	GGG		0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78380300	C	T	78380300	3	4	123	1	0	0	0	0	1	0	0	0	10837	652	23	2	1231	2	ODZ4	11	78380300	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	13030840	78380300	56626216	60	8469											
TMEM135	65084	broad.mit.edu	37	chr11	86778833	86778833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctaactgctaatggggCcttgtatatggctttctttt	7	19	8	7	0	2	0	0	0	2	0	2	0	2	0	1	3	2	3	1	3	4	9			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:86778833C>A	ENST00000305494.5	+	2	278	c.239C>A	c.(238-240)gCc>gAc	p.A80D	TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000355734.4_Missense_Mutation_p.A80D|TMEM135_ENST00000340353.7_Missense_Mutation_p.A80D|TMEM135_ENST00000532959.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	80					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTAATGGGGCCTTGTATATG	0.358																																						uc001pch.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(238-240)gCc>gAc		Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.							124	119	121					11																	86778833		2201	4299	6500	SO:0001583	missense	65084					integral to membrane		g.chr11:86778833C>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.239C>A	11.37:g.86778833C>A	ENSP00000306344:p.Ala80Asp					TMEM135_uc010rtt.2_5'UTR|TMEM135_uc001pci.3_Missense_Mutation_p.A80D|TMEM135_uc001pcg.2_Missense_Mutation_p.A80D	p.A80D	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			1	441	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	80					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.239C>A	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901204	0.52227	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.49720	0.82;0.88;0.77	5.36	4.45	0.53987	.	0.187034	0.46758	D	0.000265	T	0.32376	0.0827	N	0.19112	0.55	0.80722	D	1	B;B;P	0.43094	0.302;0.302;0.799	B;B;B	0.42522	0.086;0.124;0.39	T	0.05370	-1.0889	9	.	.	.	-13.0554	8.785	0.34814	0.0:0.7699:0.1507:0.0795	.	80;80;80	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	D	80	ENSP00000345513:A80D;ENSP00000433927:A80D;ENSP00000306344:A80D	.	A	+	2	0	TMEM135	86456481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.887000	0.56197	1.277000	0.44412	0.655000	0.94253	GCC		0.358	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		A	86778833	C	A	86778833	3	1	123	1	0	0	0	0	1	0	0	0	16048	739	26	5	245	5	TMEM135	11	86778833	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	8398533	86778833	48227683	61	8470											
MTNR1B	4544	broad.mit.edu	37	chr11	92715081	92715081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtgcttcaggcccGcaggaaagccaagccagaga	10	5	15	11	1	1	1	1	0	0	1	1	3	1	2	3	4	4	3	3	4	2	1	rs8192553	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:92715081G>A	ENST00000257068.2	+	2	698	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	231			R -> H (in dbSNP:rs8192553).		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTTCAGGCCCGCAGGAAAGCC	0.582													G|||	8	0.00159744	8e-04	0.0014	5008	,	,		18130	0		0.006	False		,,,				2504	0					uc001pdk.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(691-693)cGc>cAc		Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	Ramelteon(DB00980)	G	HIS/ARG	8,4394	14.3+/-33.2	0,8,2193	76	65	68		692	0.3	0.8	11	dbSNP_117	68	57,8539	35.9+/-90.5	0,57,4241	yes	missense	MTNR1B	NM_005959.3	29	0,65,6434	AA,AG,GG		0.6631,0.1817,0.5001	probably-damaging	231/363	92715081	65,12933	2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715081G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.692G>A	11.37:g.92715081G>A	ENSP00000257068:p.Arg231His						p.R231H	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	795	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	231		R -> H (in dbSNP:rs8192553).				Missense_Mutation	SNP	ENST00000257068.2	37	c.692G>A	CCDS8290.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	G	15.15	2.749427	0.49257	0.001817	0.006631	ENSG00000134640	ENST00000257068	T	0.38077	1.16	4.21	0.287	0.15714	GPCR, rhodopsin-like superfamily (1);	0.058348	0.64402	N	0.000007	T	0.35158	0.0922	M	0.93283	3.4	0.23406	N	0.997743	B	0.30211	0.273	B	0.30782	0.12	T	0.42632	-0.9440	10	0.54805	T	0.06	-14.7292	6.0734	0.19901	0.1911:0.0:0.6653:0.1436	rs8192553;rs8192553	231	P49286	MTR1B_HUMAN	H	231	ENSP00000257068:R231H	ENSP00000257068:R231H	R	+	2	0	MTNR1B	92354729	0.974000	0.33945	0.775000	0.31657	0.811000	0.45836	3.720000	0.54933	0.063000	0.16370	0.491000	0.48974	CGC		0.582	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			A	92715081	G	A	92715081	3	1	123	1	0	0	0	0	1	0	0	0	9952	1087	38	1	698	1	MTNR1B	11	92715081	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	5936248	92715081	42291435	62	8471											
ITPR2	3709	broad.mit.edu	37	chr12	26835518	26835518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatttacctttaacataaCaggcctctcttcatctgtgt	10	15	5	11	0	3	0	1	0	2	0	4	1	3	0	2	1	3	0	2	1	3	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:26835518C>T	ENST00000381340.3	-	12	1653	c.1237G>A	c.(1237-1239)Gtt>Att	p.V413I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	413	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTAACATAACAGGCCTCTCT	0.388																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1237-1239)Gtt>Att		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							151	135	140					12																	26835518		1892	4110	6002	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26835518C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1237G>A	12.37:g.26835518C>T	ENSP00000370744:p.Val413Ile						p.V413I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			11	1654	-	Colorectal(261;0.0847)		413			MIR 5.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1237G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894662	0.52121	.	.	ENSG00000123104	ENST00000381340	D	0.86366	-2.11	4.64	4.64	0.57946	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	N	0.13198	0.31	0.80722	D	1	B	0.24576	0.106	B	0.27500	0.08	T	0.73783	-0.3874	10	0.23891	T	0.37	.	17.7145	0.88332	0.0:1.0:0.0:0.0	.	413	Q14571	ITPR2_HUMAN	I	413	ENSP00000370744:V413I	ENSP00000370744:V413I	V	-	1	0	ITPR2	26726785	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.531000	0.81973	2.392000	0.81423	0.557000	0.71058	GTT		0.388	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26835518	C	T	26835518	3	4	123	1	0	0	0	0	1	0	0	0	7921	478	17	3	7052	3	ITPR2	12	26835518	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		26835518	107016377	63	8472											
CCNT1	904	broad.mit.edu	37	chr12	49086898	49086898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctgtattgccagatctcGaggagattccaccagaccga	10	10	10	11	2	2	3	0	0	2	3	4	6	3	3	4	1	1	1	4	1	1	3	rs374831967		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:49086898G>A	ENST00000261900.3	-	9	2321	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	700					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCAGATCTCGAGGAGATTCC	0.507																																						uc001rsd.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(2098-2100)tCg>tTg		Homo sapiens cyclin T1 (CCNT1), mRNA.		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	85	77	79		2099	5	1	12		79	0,8600		0,0,4300	no	missense	CCNT1	NM_001240.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	700/727	49086898	1,13005	2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49086898G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.2099C>T	12.37:g.49086898G>A	ENSP00000261900:p.Ser700Leu					CCNT1_uc009zkz.2_Missense_Mutation_p.S415L|CCNT1_uc021qxk.1_5'Flank	p.S700L	NM_001240	NP_001231	O60563	CCNT1_HUMAN			8	2422	-			700					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.2099C>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680507	0.29872	2.27E-4	0.0	ENSG00000129315	ENST00000261900	T	0.20069	2.1	5.0	5.0	0.66597	.	0.293261	0.33075	N	0.005315	T	0.10465	0.0256	N	0.14661	0.345	0.34103	D	0.662051	P	0.43352	0.804	B	0.25614	0.062	T	0.20605	-1.0270	10	0.72032	D	0.01	-6.9196	14.1377	0.65297	0.0:0.0:1.0:0.0	.	700	O60563	CCNT1_HUMAN	L	700	ENSP00000261900:S700L	ENSP00000261900:S700L	S	-	2	0	CCNT1	47373165	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.273000	0.65564	2.492000	0.84095	0.561000	0.74099	TCG		0.507	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		A	49086898	G	A	49086898	3	1	123	1	0	0	0	0	1	0	0	0	2934	1059	37	2	85	2	CCNT1	12	49086898	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	22251380	49086898	84764997	64	8473											
ITGB7	3695	broad.mit.edu	37	chr12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtctgcctcttgaaagcGaggattgatggtggtcgtga	8	12	14	7	2	2	3	0	3	2	0	3	5	2	4	1	3	2	0	1	3	1	2	rs141610554	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:53585372G>A	ENST00000267082.5	-	16	2596	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_ENST00000422257.3_Missense_Mutation_p.R789C|ITGB7_ENST00000550743.2_Missense_Mutation_p.R641C|ITGB7_ENST00000338737.4_Missense_Mutation_p.R641C	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	789					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGAAAGCGAGGATTGATG	0.507																																						uc009zmv.3																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2365-2367)Cgc>Tgc		Homo sapiens integrin, beta 7 (ITGB7), mRNA.		G	CYS/ARG	0,4406		0,0,2203	201	183	189		2365	-0.1	0	12	dbSNP_134	189	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ITGB7	NM_000889.1	180	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging	789/799	53585372	11,12995	2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53585372G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2365C>T	12.37:g.53585372G>A	ENSP00000267082:p.Arg789Cys					ITGB7_uc001scc.3_Missense_Mutation_p.R789C|ITGB7_uc010snz.2_Non-coding_Transcript	p.R789C	NM_000889	NP_000880	P26010	ITB7_HUMAN			14	2436	-			789					Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.2365C>T	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783281	0.70222	0.0	0.001279	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.88586	-2.4;-2.4;-2.4	4.05	-0.0984	0.13628	Integrin beta subunit, cytoplasmic (2);	0.989854	0.08192	N	0.983718	D	0.87661	0.6233	L	0.56769	1.78	0.09310	N	1	D	0.61697	0.99	P	0.51266	0.664	T	0.76288	-0.3014	10	0.72032	D	0.01	.	2.3076	0.04178	0.1835:0.1508:0.5111:0.1547	.	789	P26010	ITB7_HUMAN	C	789;789;641	ENSP00000408741:R789C;ENSP00000267082:R789C;ENSP00000345501:R641C	ENSP00000267082:R789C	R	-	1	0	ITGB7	51871639	.	.	0.006000	0.13384	0.791000	0.44710	.	.	-0.009000	0.14296	-0.253000	0.11424	CGC		0.507	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			A	53585372	G	A	53585372	3	1	123	1	0	0	0	0	1	0	0	0	7900	1058	37	2	35	2	ITGB7	12	53585372	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	4498474	53585372	80266523	65	8474											
LEMD3	23592	broad.mit.edu	37	chr12	65633734	65633734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtttgtgtcgttctGcgttacatgaaatatcgatg	8	16	12	5	3	1	2	0	2	1	0	3	3	1	2	0	1	2	3	0	1	3	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:65633734G>A	ENST00000308330.2	+	7	1973	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	649					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGTCGTTCTGCGTTACATGA	0.294																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1945-1947)ctG>ctA		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							113	107	109					12																	65633734		2203	4300	6503	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65633734G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1947G>A	12.37:g.65633734G>A						LEMD3_uc009zqo.2_Silent_p.L648L	p.L649L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	6	1973	+			649					Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.1947G>A	CCDS8972.1																																																																																				0.294	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			A	65633734	G	A	65633734	2	1	123	1	0	0	0	0	0	0	0	1	8721	1306	46	3		3	LEMD3	12	65633734	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	12048362	65633734	68218161	66	8475											
CCT2	10576	broad.mit.edu	37	chr12	69985894	69985894	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaacgaattgaaaatgcTaaaattcttattgcaaatac	19	11	4	7	1	1	1	0	1	1	0	1	2	1	1	1	0	4	2	1	0	10	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:69985894T>G	ENST00000299300.6	+	8	893	c.705T>G	c.(703-705)gcT>gcG	p.A235A	CCT2_ENST00000543146.2_Silent_p.A188A|CCT2_ENST00000544368.2_Silent_p.A235A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	235					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGAAAATGCTAAAATTCTTA	0.294																																						uc001svb.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(703-705)gcT>gcG		Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.							64	75	71					12																	69985894		2202	4299	6501	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985894T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.705T>G	12.37:g.69985894T>G						CCT2_uc010stl.1_Silent_p.A188A	p.A235A	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		7	799	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		235					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.705T>G	CCDS8991.1																																																																																				0.294	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		G	69985894	T	G	69985894	2	3	123	1	0	0	0	0	0	0	0	1	2953	1509	53	5		5	CCT2	12	69985894	Silent	SNP	T	TCGA-12-5295-01A-01D-1486-08	4352160	69985894	63866001	67	8476											
SCARB1	949	broad.mit.edu	37	chr12	125294730	125294730	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgattaccggcaggcctCcgggctgtagaactccagcg	8	7	13	13	3	0	2	0	1	0	1	2	2	2	2	4	3	3	3	4	3	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:125294730C>A	ENST00000415380.2	-	6	957	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SCARB1_ENST00000339570.5_Nonsense_Mutation_p.E278*|SCARB1_ENST00000540495.1_Nonsense_Mutation_p.E241*|SCARB1_ENST00000261693.6_Nonsense_Mutation_p.E278*|SCARB1_ENST00000376788.1_Nonsense_Mutation_p.E178*|SCARB1_ENST00000546215.1_Nonsense_Mutation_p.E278*|SCARB1_ENST00000541205.1_Nonsense_Mutation_p.E237*|SCARB1_ENST00000544327.1_Nonsense_Mutation_p.E224*|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	278					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGCAGGCCTCCGGGCTGTAG	0.552																																						uc001ugp.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(832-834)Gag>Tag		Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						36	37	36					12																	125294730		2203	4300	6503	SO:0001587	stop_gained	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125294730C>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.832G>T	12.37:g.125294730C>A	ENSP00000414979:p.Glu278*					SCARB1_uc001ugm.4_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.4_Nonsense_Mutation_p.E278*|SCARB1_uc010tbd.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.4_Nonsense_Mutation_p.E278*	p.E278*	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	5	1085	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		278					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Nonsense_Mutation	SNP	ENST00000415380.2	37	c.832G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.248345	0.98161	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	.	.	.	5.39	5.39	0.77823	.	0.270402	0.39020	N	0.001484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8162	19.1557	0.93509	0.0:1.0:0.0:0.0	.	.	.	.	X	278;278;278;178;278;237;224;241	.	ENSP00000261693:E278X	E	-	1	0	SCARB1	123860683	1.000000	0.71417	0.710000	0.30468	0.919000	0.55068	7.265000	0.78442	2.517000	0.84864	0.462000	0.41574	GAG		0.552	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		A	125294730	C	A	125294730	4	1	123	1	0	0	0	0	0	1	0	0	13881	864	30	5	849	5	SCARB1	12	125294730	Nonsense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	55308836	125294730	8557165	68	8477											
MYO16	23026	broad.mit.edu	37	chr13	109792874	109792874	+	Frame_Shift_Del	DEL	G	G	-																															cctgtgtacatcgagatgctGgggcacgcggccaggcccga																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr13:109792874delG	ENST00000357550.2	+	31	4289	c.4248delG	c.(4246-4248)ctgfs	p.L1416fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.L1416fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGAGATGCTGGGGCACGCGG	0.736																																						uc010agk.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4312-4314)ctgfs		Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.							4	5	5					13																	109792874		1866	3715	5581	SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109792874delG		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4248delG	13.37:g.109792874delG	ENSP00000350160:p.Leu1416fs					MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs	p.L1438fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4936	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1416			Pro-rich.			Frame_Shift_Del	DEL	ENST00000357550.2	37	c.4314delG	CCDS32008.1																																																																																				0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		-	109792874	G	-	109792874	7	5	123	1	0	1	0	1	0	0	0	0	10064	1335	47	0	4370	0	MYO16	13	109792874	Frame_Shift_Del	DEL	G	TCGA-12-5295-01A-01D-1486-08		109792874	5377004	69	8478											
OR4K13	390433	broad.mit.edu	37	chr14	20502107	20502107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgtgtaaaacacagaaaGaattttatctaccgagtatc	17	12	6	6	1	1	2	0	0	1	2	2	3	1	2	1	0	2	2	1	0	8	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:20502107G>A	ENST00000315693.2	-	1	812	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AACACAGAAAGAATTTTATCT	0.378																																						uc010tkz.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(811-813)Ctt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.							49	50	50					14																	20502107		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502107G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.811C>T	14.37:g.20502107G>A	ENSP00000319322:p.Leu271Phe						p.L271F	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	0	811	-	all_cancers(95;0.00108)		271					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.811C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	8.458	0.854546	0.17106	.	.	ENSG00000176253	ENST00000315693	T	0.38401	1.14	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34750	U	0.003704	T	0.42200	0.1192	L	0.60845	1.875	0.09310	N	1	P	0.41673	0.759	P	0.51016	0.656	T	0.24476	-1.0159	10	0.56958	D	0.05	.	6.2023	0.20583	0.0:0.2045:0.5853:0.2101	.	271	Q8NH42	OR4KD_HUMAN	F	271	ENSP00000319322:L271F	ENSP00000319322:L271F	L	-	1	0	OR4K13	19571947	0.000000	0.05858	0.978000	0.43139	0.074000	0.17049	-0.001000	0.12947	1.757000	0.51966	0.514000	0.50259	CTT		0.378	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			A	20502107	G	A	20502107	3	1	123	1	0	0	0	0	1	0	0	0	11068	942	33	3	105	3	OR4K13	14	20502107	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		20502107	86847433	70	8479											
C14orf43	91748	broad.mit.edu	37	chr14	74203800	74203800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttcaggacccttcccGtcctcatcaagacctccagc	7	11	6	17	1	4	1	3	0	1	1	7	2	7	2	5	1	1	1	5	1	1	3	rs371285703	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:74203800G>A	ENST00000286523.5	-	3	2432	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	ELMSAN1_ENST00000394071.2_Silent_p.D550D|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GACCCTTCCCGTCCTCATCAA	0.602													G|||	2	0.000399361	0	0.0014	5008	,	,		18108	0		0	False		,,,				2504	0.001					uc010tud.1																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37						c.(1648-1650)gaC>gaT		Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	99	84	89		1650,1650	-7.2	0.8	14		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	550/1046,550/1046	74203800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74203800G>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1650C>T	14.37:g.74203800G>A						C14orf43_uc001xot.3_Silent_p.D550D|C14orf43_uc001xou.3_Silent_p.D550D|C14orf43_uc010arw.2_Non-coding_Transcript	p.D550D	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	1	1897	-			550					Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.1650C>T	CCDS9819.1																																																																																				0.602	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		A	74203800	G	A	74203800	2	1	123	1	0	0	0	0	0	0	0	1	1774	1136	40	1		1	C14orf43	14	74203800	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	53701693	74203800	33145740	71	8480											
NUDT14	256281	broad.mit.edu	37	chr14	105642875	105642875	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctggtcccactcaccagtAtgtggcgacccggcgcagat	7	7	12	15	3	1	1	1	0	0	1	2	2	2	1	4	3	0	2	4	3	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:105642875A>T	ENST00000392568.2	-	4	517	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'Flank	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	142	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAGTATGTGGCGACC	0.642										HNSCC(42;0.11)																												uc010tyn.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(424-426)Tac>Aac		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.							38	38	38					14																	105642875		2191	4290	6481	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105642875A>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.424T>A	14.37:g.105642875A>T	ENSP00000376349:p.Tyr142Asn	HNSCC(42;0.11)				NUDT14_uc001yqi.3_Non-coding_Transcript	p.Y142N	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	538	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	142			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.424T>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158680	0.38119	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	T	0.09538	2.97	3.82	2.62	0.31277	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.158688	0.43747	D	0.000528	T	0.29491	0.0735	M	0.87900	2.915	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	T	0.02431	-1.1160	10	0.36615	T	0.2	.	6.27	0.20949	0.7779:0.0:0.0:0.2221	.	142	O95848	NUD14_HUMAN	N	142	ENSP00000376349:Y142N	ENSP00000376349:Y142N	Y	-	1	0	NUDT14	104713920	0.983000	0.35010	0.134000	0.22075	0.026000	0.11368	2.878000	0.48515	0.766000	0.33244	0.460000	0.39030	TAC		0.642	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		T	105642875	A	T	105642875	3	4	123	1	0	0	0	0	1	0	0	0	10730	449	16	5	252	5	NUDT14	14	105642875	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	31439075	105642875	1706665	72	8481											
TJP1	7082	broad.mit.edu	37	chr15	30000963	30000963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcacttggcagaagattGtgattgaatttaggactttc	10	16	10	5	0	1	4	1	2	0	2	2	5	1	5	0	2	0	2	0	2	3	7			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:30000963G>A	ENST00000346128.6	-	25	5124	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	TJP1_ENST00000400011.2_Silent_p.H1474H|TJP1_ENST00000356107.6_Silent_p.H1550H|TJP1_ENST00000545208.2_Silent_p.H1470H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1550					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAAGATTGTGATTGAATT	0.413																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4648-4650)caC>caT		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							283	261	268					15																	30000963		1914	4147	6061	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30000963G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4650C>T	15.37:g.30000963G>A						TJP1_uc010azl.3_Silent_p.H1538H|TJP1_uc001zcq.3_Silent_p.H1474H|TJP1_uc001zcs.3_Silent_p.H1470H	p.H1550H	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	5125	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1550					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.4650C>T	CCDS42007.1																																																																																				0.413	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30000963	G	A	30000963	2	1	123	1	0	0	0	0	0	0	0	1	15926	1368	48	3		3	TJP1	15	30000963	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08		30000963	72530429	73	8482											
BAHD1	22893	broad.mit.edu	37	chr15	40750817	40750817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcacctcacagggcgcCgcaagaattacccacttcgt	10	7	9	15	3	2	1	2	0	0	1	3	1	2	1	3	2	1	1	3	2	3	2	rs144910683		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:40750817C>T	ENST00000416165.1	+	2	225	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	BAHD1_ENST00000560846.1_Missense_Mutation_p.R52C|BAHD1_ENST00000561234.1_Missense_Mutation_p.R52C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	52					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACAGGGCGCCGCAAGAATTA	0.632																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(154-156)Cgc>Tgc		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							78	72	74					15																	40750817		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750817C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.154C>T	15.37:g.40750817C>T	ENSP00000396976:p.Arg52Cys					BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C	p.R52C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	225	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	52					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.154C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371994	0.42003	.	.	ENSG00000140320	ENST00000416165	T	0.27256	1.68	5.14	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.23013	-1.0200	10	0.87932	D	0	-21.6492	13.7779	0.63066	0.2661:0.7338:0.0:0.0	.	52;52;52	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	52	ENSP00000396976:R52C	ENSP00000396976:R52C	R	+	1	0	BAHD1	38538109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.335000	0.43929	2.668000	0.90789	0.655000	0.94253	CGC		0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		T	40750817	C	T	40750817	3	4	123	1	0	0	0	0	1	0	0	0	1297	652	23	2	156	2	BAHD1	15	40750817	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	10749854	40750817	61780575	74	8483											
SLCO3A1	28232	broad.mit.edu	37	chr15	92690225	92690225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttcagaatctcacgggCtgtgcgtgcctcaccaccgt	6	10	9	16	3	3	1	3	0	1	1	4	1	3	1	4	1	2	1	4	1	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:92690225C>T	ENST00000318445.6	+	8	1738	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.G508G	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	508	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ATCTCACGGGCTGTGCGTGCC	0.557																																						uc002bqx.2																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1522-1524)ggC>ggT		Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.							85	71	75					15																	92690225		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92690225C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1524C>T	15.37:g.92690225C>T						SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G	p.G508G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1725	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		508			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.1524C>T	CCDS10371.1																																																																																				0.557	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		T	92690225	C	T	92690225	2	4	123	1	0	0	0	0	0	0	0	1	14728	784	28	3		3	SLCO3A1	15	92690225	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	51939408	92690225	9841167	75	8484											
SSTR5	6755	broad.mit.edu	37	chr16	1129429	1129429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagggcggtacctgcaaCgccagctggccggagcccgt	7	4	16	14	4	0	0	0	0	0	0	0	2	0	2	4	5	5	3	4	5	2	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr16:1129429C>T	ENST00000293897.4	+	1	649	c.561C>T	c.(559-561)aaC>aaT	p.N187N	SSTR5_ENST00000397547.2_Silent_p.N187N|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Silent_p.N187N	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	187					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTACCTGCAACGCCAGCTGGC	0.692																																						uc021taf.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(559-561)aaC>aaT		Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	Octreotide(DB00104)						21	26	24					16																	1129429		2170	4280	6450	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129429C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.561C>T	16.37:g.1129429C>T						LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.N187N	p.N187N	NM_001172560	NP_001166031	P35346	SSR5_HUMAN			1	632	+		Hepatocellular(780;0.00369)	187					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.561C>T	CCDS10429.1																																																																																				0.692	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			T	1129429	C	T	1129429	2	4	123	1	0	0	0	0	0	0	0	1	15200	535	19	1		1	SSTR5	16	1129429	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08		1129429	89225324	76	8485											
MYH8	4626	broad.mit.edu	37	chr17	10295897	10295897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcgtcgctcatgtttccGtaaacctttaacagcctctg	8	14	6	13	3	2	0	1	0	1	0	5	0	3	0	3	0	4	3	3	0	4	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:10295897G>A	ENST00000403437.2	-	38	5624	c.5530C>T	c.(5530-5532)Cgg>Tgg	p.R1844W	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1844					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATGTTTCCGTAAACCTTTA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5530-5532)Cgg>Tgg		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							195	181	185					17																	10295897		2202	4300	6502	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295897G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5530C>T	17.37:g.10295897G>A	ENSP00000384330:p.Arg1844Trp					AK097500_uc002gml.1_Intron	p.R1844W	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5625	-			1844					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5530C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737895	0.89573	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83335	-1.71	5.03	4.04	0.47022	Myosin tail (1);	0.000000	0.40144	U	0.001164	D	0.93858	0.8035	H	0.97051	3.93	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.95632	0.8690	10	0.87932	D	0	.	14.4973	0.67698	0.0:0.0:0.8477:0.1523	.	1844	P13535	MYH8_HUMAN	W	1844	ENSP00000384330:R1844W	ENSP00000252173:R1844W	R	-	1	2	MYH8	10236622	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.817000	0.55668	1.282000	0.44496	0.650000	0.86243	CGG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10295897	G	A	10295897	3	1	123	1	0	0	0	0	1	0	0	0	10041	1144	40	1	295	1	MYH8	17	10295897	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		10295897	70899313	77	8486											
STAT3	6774	broad.mit.edu	37	chr17	40474479	40474479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttcagctgctgctttGtgtatggttccacggactgg	4	16	13	8	1	1	0	1	0	0	0	2	1	2	1	1	3	3	7	1	3	1	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:40474479G>A	ENST00000264657.5	-	21	2234	c.1922C>T	c.(1921-1923)aCa>aTa	p.T641I	STAT3_ENST00000585517.1_Missense_Mutation_p.T641I|STAT3_ENST00000404395.3_Missense_Mutation_p.T641I|STAT3_ENST00000389272.3_Missense_Mutation_p.T543I|STAT3_ENST00000588969.1_Missense_Mutation_p.T641I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	641	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCTGCTTTGTGTATGGTTC	0.463									Hyperimmunoglobulin E Recurrent Infection Syndrome																													uc002hzl.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1921-1923)aCa>aTa		Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.							247	216	227					17																	40474479		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474479G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1922C>T	17.37:g.40474479G>A	ENSP00000264657:p.Thr641Ile					STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	p.T641I	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	20	2162	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	641			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1922C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444980	0.83993	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.97378	-4.36;-4.36;-4.36	4.64	4.64	0.57946	SH2 motif (4);	0.056155	0.64402	D	0.000001	D	0.98223	0.9412	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.99;0.994;0.994	D	0.99418	1.0932	10	0.87932	D	0	-6.801	17.7038	0.88303	0.0:0.0:1.0:0.0	.	641;641;641	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	I	641;543;641	ENSP00000264657:T641I;ENSP00000373923:T543I;ENSP00000384943:T641I	ENSP00000264657:T641I	T	-	2	0	STAT3	37728005	1.000000	0.71417	0.999000	0.59377	0.791000	0.44710	7.804000	0.85993	2.411000	0.81874	0.563000	0.77884	ACA		0.463	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		A	40474479	G	A	40474479	3	1	123	1	0	0	0	0	1	0	0	0	15265	1377	48	3	406	3	STAT3	17	40474479	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	30178582	40474479	40720731	78	8487											
LRRC30	339291	broad.mit.edu	37	chr18	7231759	7231759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagagcatccagcaccTggccagcctgcagatcttca	9	7	10	15	1	2	2	1	1	1	2	3	3	3	2	4	1	4	4	4	1	0	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:7231759T>C	ENST00000383467.2	+	1	637	c.623T>C	c.(622-624)cTg>cCg	p.L208P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	208										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCCAGCACCTGGCCAGCCTG	0.562																																						uc010wzk.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(622-624)cTg>cCg		Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.							67	73	71					18																	7231759		2134	4258	6392	SO:0001583	missense	339291							g.chr18:7231759T>C		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.623T>C	18.37:g.7231759T>C	ENSP00000372959:p.Leu208Pro						p.L208P	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			0	623	+			208						Missense_Mutation	SNP	ENST00000383467.2	37	c.623T>C	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416337	0.42918	.	.	ENSG00000206422	ENST00000383467	T	0.36157	1.27	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82348	-0.0502	10	0.87932	D	0	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	208	A6NM36	LRC30_HUMAN	P	208	ENSP00000372959:L208P	ENSP00000372959:L208P	L	+	2	0	LRRC30	7221759	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	CTG		0.562	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		C	7231759	T	C	7231759	3	2	123	1	0	0	0	0	1	0	0	0	8985	1580	55	4	625	4	LRRC30	18	7231759	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08		7231759	70845489	79	8488											
DCC	1630	broad.mit.edu	37	chr18	50278484	50278484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccttctgatgccgtcaCaatgcggggaggaaatgtcc	11	8	12	10	2	2	2	1	1	1	1	3	4	3	4	3	3	3	0	3	3	3	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:50278484C>T	ENST00000442544.2	+	2	768	c.152C>T	c.(151-153)aCa>aTa	p.T51I	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	51	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGCCGTCACAATGCGGGGA	0.498																																						uc002lfe.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(151-153)aCa>aTa		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							64	63	63					18																	50278484		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278484C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.152C>T	18.37:g.50278484C>T	ENSP00000389140:p.Thr51Ile					DCC_uc010xdr.1_5'UTR	p.T51I	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	1	768	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	51			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.152C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857530	0.51376	.	.	ENSG00000187323	ENST00000442544	T	0.10477	2.87	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	N	0.12887	0.27	0.80722	D	1	P	0.46220	0.874	P	0.53988	0.739	T	0.26538	-1.0100	10	0.25751	T	0.34	.	18.5252	0.90969	0.0:1.0:0.0:0.0	.	51	P43146	DCC_HUMAN	I	51	ENSP00000389140:T51I	ENSP00000389140:T51I	T	+	2	0	DCC	48532482	1.000000	0.71417	0.925000	0.36789	0.714000	0.41099	5.682000	0.68182	2.676000	0.91093	0.655000	0.94253	ACA		0.498	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50278484	C	T	50278484	3	4	123	1	0	0	0	0	1	0	0	0	4282	478	17	3	158	3	DCC	18	50278484	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	43046725	50278484	27798764	80	8489											
MUC16	94025	broad.mit.edu	37	chr19	9006685	9006685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgttgaacttcctggagCcagggtgacccatgttctcc	7	12	11	11	0	1	3	0	3	1	0	3	4	2	4	4	2	2	2	4	2	1	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:9006685C>T	ENST00000397910.4	-	44	39766	c.39563G>A	c.(39562-39564)gGc>gAc	p.G13188D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13190	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCTGGAGCCAGGGTGACC	0.527																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39562-39564)gGc>gAc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							236	193	207					19																	9006685		1982	4143	6125	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006685C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39563G>A	19.37:g.9006685C>T	ENSP00000381008:p.Gly13188Asp					MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G5D|MUC16_uc021uog.1_Intron	p.G13188D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			43	39767	-			13190			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39563G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.14|12.14	1.849920|1.849920	0.32699|0.32699	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.62941	.|-0.01	2.99|2.99	1.88|1.88	0.25563|0.25563	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.75110|0.75110	0.3805|0.3805	M|M	0.77616|0.77616	2.38|2.38	.|.	.|.	.|.	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.80764	.|0.979;0.994	T|T	0.79019|0.79019	-0.1974|-0.1974	4|8	.|0.87932	.|D	.|0	-7.2655|-7.2655	7.7113|7.7113	0.28679|0.28679	0.0:0.7378:0.2622:0.0|0.0:0.7378:0.2622:0.0	.|.	.|20833;13188	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	28|13188;319	.|ENSP00000381008:G13188D	.|ENSP00000381008:G13188D	A|G	-|-	1|2	0|0	MUC16|MUC16	8867685|8867685	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	-0.399000|-0.399000	0.07250|0.07250	0.754000|0.754000	0.32968|0.32968	0.557000|0.557000	0.71058|0.71058	GCT|GGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9006685	C	T	9006685	3	4	123	1	0	0	0	0	1	0	0	0	9973	739	26	3	4124	3	MUC16	19	9006685	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		9006685	50122298	81	8490											
CYP2A13	1553	broad.mit.edu	37	chr19	41600897	41600897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctatgctgggctccgtgCtgagagaccccaggttcttc	5	11	11	14	1	1	2	0	1	1	1	4	3	3	2	4	2	2	4	4	2	1	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:41600897C>T	ENST00000330436.3	+	8	1195	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	399					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGGCTCCGTGCTGAGAGACCC	0.557																																						uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1195-1197)Ctg>Ttg		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						123	112	116					19																	41600897		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41600897C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1195C>T	19.37:g.41600897C>T							p.L399L	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			7	1204	+			399					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.1195C>T	CCDS12571.1																																																																																				0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41600897	C	T	41600897	2	4	123	1	0	0	0	0	0	0	0	1	4161	796	28	3		3	CYP2A13	19	41600897	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	32594212	41600897	17528086	82	8491											
PSG8	440533	broad.mit.edu	37	chr19	43258694	43258694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagaggacttctcctgaaCggtaataggtgaatgaaggg	13	9	14	5	1	1	4	0	3	1	1	2	5	1	5	1	4	1	2	1	4	6	4	rs148019273	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:43258694C>T	ENST00000306511.4	-	5	1131	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG8_ENST00000404209.4_Missense_Mutation_p.R345H|PSG8_ENST00000401467.2_Missense_Mutation_p.R252H|PSG8_ENST00000406636.3_Missense_Mutation_p.R223H|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	345	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCTCCTGAACGGTAATAGGT	0.473													.|||	5	0.000998403	0	0	5008	,	,		19966	0		0	False		,,,				2504	0.0051					uc002ouo.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1033-1035)cGt>cAt		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4403		0,1,2201	71	80	77		1034,668,1034	-2.8	0	19	dbSNP_134	77	3,8589		0,3,4293	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	29,29,29	0,4,6494	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign,benign	345/420,223/298,345/427	43258694	4,12992	2202	4296	6498	SO:0001583	missense	440533					extracellular region		g.chr19:43258694C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1034G>A	19.37:g.43258694C>T	ENSP00000305005:p.Arg345His					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R345H|PSG8_uc010ein.3_Missense_Mutation_p.R223H|PSG3_uc002oun.3_Intron	p.R345H	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	1132	-		Prostate(69;0.00899)	345			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1034G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.173	-1.069224	0.01918	2.27E-4	3.49E-4	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	1.38	-2.76	0.05896	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06508	0.0167	L	0.28400	0.85	0.09310	N	1	B;B;B;B;B;B	0.24317	0.002;0.101;0.012;0.008;0.002;0.003	B;B;B;B;B;B	0.22880	0.005;0.042;0.027;0.04;0.008;0.013	T	0.42137	-0.9469	9	0.13108	T	0.6	.	0.3883	0.00406	0.1966:0.3026:0.1968:0.3041	.	223;252;345;252;345;345	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	H	345;127;223;252;157;252;345	ENSP00000385869:R345H;ENSP00000385081:R223H;ENSP00000386090:R252H;ENSP00000305005:R345H	ENSP00000292109:R127H	R	-	2	0	PSG8	47950534	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.681000	0.00394	-2.047000	0.00908	-1.261000	0.01458	CGT		0.473	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43258694	C	T	43258694	3	4	123	1	0	0	0	0	1	0	0	0	12661	536	19	1	271	1	PSG8	19	43258694	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1657797	43258694	15870289	83	8492											
CEACAM16	388551	broad.mit.edu	37	chr19	45208902	45208902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggattccaccacccGcacaggctgcaccatcaaag	11	5	7	18	1	1	0	1	0	0	0	3	1	3	1	6	2	1	3	6	2	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:45208902G>T	ENST00000405314.2	+	4	801	c.704G>T	c.(703-705)cGc>cTc	p.R235L	CEACAM16_ENST00000587331.1_Missense_Mutation_p.R235L|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	235	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCCACCACCCGCACAGGCTGC	0.612																																						uc010xxd.2																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(703-705)cGc>cTc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.							59	64	62					19																	45208902		2094	4206	6300	SO:0001583	missense	388551							g.chr19:45208902G>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.704G>T	19.37:g.45208902G>T	ENSP00000385576:p.Arg235Leu						p.R235L	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN			4	910	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	235					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.704G>T	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627866	0.46944	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.18810	2.19	5.24	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.344301	0.17183	U	0.183810	T	0.08088	0.0202	N	0.02539	-0.55	0.32388	N	0.553628	B	0.12630	0.006	B	0.12837	0.008	T	0.06180	-1.0841	10	0.46703	T	0.11	-18.6793	7.076	0.25205	0.0901:0.0:0.7417:0.1682	.	294	Q2WEN9	CEA16_HUMAN	L	300;235	ENSP00000385576:R235L	ENSP00000379974:R300L	R	+	2	0	CEACAM16	49900742	0.902000	0.30710	1.000000	0.80357	0.997000	0.91878	0.655000	0.24933	1.186000	0.42985	0.561000	0.74099	CGC		0.612	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		T	45208902	G	T	45208902	3	4	123	1	0	0	0	0	1	0	0	0	3188	1087	38	5	718	5	CEACAM16	19	45208902	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	1950208	45208902	13920081	84	8493											
TEAD2	8463	broad.mit.edu	37	chr19	49862740	49862740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcttgatgtagcgggcGatcagttcattccgacctga	8	11	11	11	3	3	2	3	2	0	0	4	4	4	2	2	1	2	3	2	1	1	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:49862740G>A	ENST00000311227.2	-	3	339	c.249C>T	c.(247-249)atC>atT	p.I83I	DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000601519.1_Silent_p.I83I|TEAD2_ENST00000598810.1_Silent_p.I83I|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_5'UTR|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000377214.4_Silent_p.I83I|TEAD2_ENST00000593945.1_Silent_p.I83I	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	83					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGTAGCGGGCGATCAGTTCAT	0.512																																						uc002pnh.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(247-249)atC>atT		Homo sapiens TEA domain family member 2 (TEAD2), mRNA.							222	190	201					19																	49862740		2203	4300	6503	SO:0001819	synonymous_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49862740G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.249C>T	19.37:g.49862740G>A						TEAD2_uc002png.3_Silent_p.I83I|TEAD2_uc002pni.3_Silent_p.I83I|TEAD2_uc002pnj.3_Silent_p.I83I|TEAD2_uc010yao.2_5'UTR|TEAD2_uc010emw.3_Silent_p.I83I	p.I83I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	2	355	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	83					B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	ENST00000311227.2	37	c.249C>T	CCDS12761.1																																																																																				0.512	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		A	49862740	G	A	49862740	2	1	123	1	0	0	0	0	0	0	0	1	15736	1048	37	2		2	TEAD2	19	49862740	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	4653838	49862740	9266243	85	8494											
BMP2	650	broad.mit.edu	37	chr20	6758901	6758901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaattagaatctttggAagaactaccagaaacgagtg	17	10	8	6	1	2	3	1	0	1	3	2	5	2	4	1	1	3	0	1	1	8	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:6758901A>T	ENST00000378827.4	+	3	1575	c.356A>T	c.(355-357)gAa>gTa	p.E119V		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	119					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GAATCTTTGGAAGAACTACCA	0.363																																						uc002wmu.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(355-357)gAa>gTa		Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	Simvastatin(DB00641)						40	47	45					20																	6758901		2199	4293	6492	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6758901A>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.356A>T	20.37:g.6758901A>T	ENSP00000368104:p.Glu119Val						p.E119V	NM_001200	NP_001191	P12643	BMP2_HUMAN			2	1141	+			119						Missense_Mutation	SNP	ENST00000378827.4	37	c.356A>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.394013	0.25205	.	.	ENSG00000125845	ENST00000378827	T	0.69040	-0.37	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82444	0.5038	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84583	0.0662	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	119	P12643	BMP2_HUMAN	V	119	ENSP00000368104:E119V	ENSP00000368104:E119V	E	+	2	0	BMP2	6706901	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	9.056000	0.93881	2.367000	0.80283	0.528000	0.53228	GAA		0.363	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			T	6758901	A	T	6758901	3	4	123	1	0	0	0	0	1	0	0	0	1459	246	9	5	362	5	BMP2	20	6758901	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08		6758901	56266619	86	8495											
PLK1S1	101929591	broad.mit.edu	37	chr20	21143040	21143040	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgggaacatattgaagttGaggaaaaaagagccagcccg	16	5	12	8	2	0	3	0	2	0	1	0	5	0	5	2	2	3	1	2	2	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:21143040G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TATTGAAGTTGAGGAAAAAAG	0.448																																						uc002wsb.3																			0											c.(934-936)Gag>Aag		Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.							37	39	38					20																	21143040		1860	4098	5958			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143040G>A																													20.37:g.21143040G>A						PLK1S1_uc010zsh.2_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.2_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	p.E312K	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			4	1067	+			312						Missense_Mutation	SNP	ENST00000591761.1	37	c.934G>A																																																																																					0.448	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			A	21143040	G	A	21143040	1	1	123	0	1	0	0	0	0	0	0	0	12095	1291	45	3		3	PLK1S1	20	21143040	RNA	SNP	G	TCGA-12-5295-01A-01D-1486-08	14384139	21143040	41882480	87	8496											
FOXR2	139628	broad.mit.edu	37	chrX	55650313	55650313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcggagtaatgaagcccCcagaaatgcctcagaagagg	14	5	13	9	1	1	4	1	1	0	3	2	6	1	5	3	2	2	1	3	2	4	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:55650313C>T	ENST00000339140.3	+	1	481	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	57					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AATGAAGCCCCCAGAAATGCC	0.517																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(169-171)Cca>Tca		Homo sapiens forkhead box R2 (FOXR2), mRNA.							90	82	85					X																	55650313		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650313C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.169C>T	X.37:g.55650313C>T	ENSP00000427329:p.Pro57Ser						p.P57S	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	481	+			57						Missense_Mutation	SNP	ENST00000339140.3	37	c.169C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969769	0.34754	.	.	ENSG00000189299	ENST00000339140	D	0.93604	-3.25	3.53	3.53	0.40419	.	1.445930	0.04441	N	0.370917	D	0.95623	0.8577	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	D	0.85941	0.1458	10	0.37606	T	0.19	.	9.6639	0.39972	0.0:1.0:0.0:0.0	.	57	Q6PJQ5	FOXR2_HUMAN	S	57	ENSP00000427329:P57S	ENSP00000427329:P57S	P	+	1	0	FOXR2	55667038	0.005000	0.15991	0.068000	0.19968	0.069000	0.16628	1.027000	0.30115	2.027000	0.59764	0.513000	0.50165	CCA		0.517	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		T	55650313	C	T	55650313	3	4	123	1	0	0	0	0	1	0	0	0	6032	623	22	3	171	3	FOXR2	23	55650313	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		55650313	99620247	88	8497											
YIPF6	286451	broad.mit.edu	37	chrX	67742720	67742720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaacttcatggttcggCtttttgtggtgattgtgatg	6	18	12	5	1	1	2	1	2	0	0	2	2	1	2	0	3	1	3	0	3	2	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:67742720C>A	ENST00000462683.1	+	6	1297	c.553C>A	c.(553-555)Ctt>Att	p.L185I	YIPF6_ENST00000374622.2_Missense_Mutation_p.L142I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	185					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CATGGTTCGGCTTTTTGTGGT	0.408																																						uc004dwz.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(553-555)Ctt>Att		Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.							248	175	200					X																	67742720		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67742720C>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.553C>A	X.37:g.67742720C>A	ENSP00000417573:p.Leu185Ile					YIPF6_uc011mph.2_Missense_Mutation_p.L142I	p.L185I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			5	838	+			185					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.553C>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730091	0.48939	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.80994	-1.44;0.26;0.77	5.43	3.64	0.41730	Yip1 domain (1);	0.062487	0.64402	D	0.000003	T	0.72859	0.3513	L	0.39147	1.195	0.54753	D	0.999982	B;B	0.28128	0.036;0.201	B;B	0.35278	0.067;0.199	T	0.65549	-0.6141	10	0.22706	T	0.39	-8.7832	9.9625	0.41704	0.0:0.8174:0.0:0.1826	.	142;185	G5E997;Q96EC8	.;YIPF6_HUMAN	I	185;142;142	ENSP00000417573:L185I;ENSP00000401799:L142I;ENSP00000363751:L142I	ENSP00000363751:L142I	L	+	1	0	YIPF6	67659445	0.815000	0.29118	0.950000	0.38849	0.945000	0.59286	1.441000	0.35035	1.200000	0.43188	0.523000	0.50628	CTT		0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		A	67742720	C	A	67742720	3	1	123	1	0	0	0	0	1	0	0	0	17479	797	28	5	575	5	YIPF6	23	67742720	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	12092407	67742720	87527840	89	8498											
FAM199X	139231	broad.mit.edu	37	chrX	103434406	103434406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaacgaagaggtgctgTccttgaaagtgactgaggaa	12	10	12	7	1	0	4	0	3	0	1	2	6	2	5	2	2	2	1	2	2	4	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:103434406T>C	ENST00000493442.1	+	6	1280	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	372										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGAGGTGCTGTCCTTGAAAGT	0.473																																						uc004elw.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(1114-1116)Tcc>Ccc		Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.							150	125	133					X																	103434406		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103434406T>C	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.1114T>C	X.37:g.103434406T>C	ENSP00000417581:p.Ser372Pro					FAM199X_uc004elx.3_Missense_Mutation_p.S146P	p.S372P	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN			5	1425	+			372					Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.1114T>C	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859163	0.51376	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	5.07	0.68467	.	0.051528	0.85682	D	0.000000	T	0.58293	0.2112	L	0.60455	1.87	0.80722	D	1	P;P	0.42409	0.779;0.718	P;B	0.44359	0.447;0.426	T	0.58940	-0.7547	8	.	.	.	-5.6881	13.353	0.60613	0.0:0.0:0.0:1.0	.	329;372	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	P	372	.	.	S	+	1	0	FAM199X	103321062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.215000	0.72206	1.815000	0.52974	0.481000	0.45027	TCC		0.473	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		C	103434406	T	C	103434406	3	2	123	1	0	0	0	0	1	0	0	0	5530	1667	58	4	1136	4	FAM199X	23	103434406	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	35691686	103434406	51836154	90	8499											
COL4A5	1287	broad.mit.edu	37	chrX	107911614	107911614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttccaggtccaaagggcGaaccaggctttcacggtttc	8	9	11	13	2	1	0	1	0	0	0	4	1	3	0	4	4	1	2	4	4	2	3	rs104886391		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:107911614G>A	ENST00000361603.2	+	41	3914	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_ENST00000328300.6_Missense_Mutation_p.E1224K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1224	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3670-3672)Gaa>Aaa		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							60	54	56					X																	107911614		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107911614G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3670G>A	X.37:g.107911614G>A	ENSP00000354505:p.Glu1224Lys					COL4A5_uc004enz.1_Missense_Mutation_p.E1224K	p.E1224K	NM_033380	NP_203699	P29400	CO4A5_HUMAN			40	3872	+			1224			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3670G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899086	0.72754	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93811	-3.24;-3.29	5.97	5.97	0.96955	.	0.205916	0.45606	D	0.000351	D	0.93429	0.7904	M	0.66506	2.035	0.49483	D	0.999794	D;D	0.53151	0.958;0.958	B;B	0.43990	0.438;0.438	D	0.93799	0.7099	10	0.62326	D	0.03	.	19.2739	0.94023	0.0:0.0:1.0:0.0	.	1224;1224	E7EVY4;P29400	.;CO4A5_HUMAN	K	1224	ENSP00000331902:E1224K;ENSP00000354505:E1224K	ENSP00000331902:E1224K	E	+	1	0	COL4A5	107798270	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	9.334000	0.96470	2.504000	0.84457	0.594000	0.82650	GAA		0.532	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107911614	G	A	107911614	3	1	123	1	0	0	0	0	1	0	0	0	3694	1059	37	2	3832	2	COL4A5	23	107911614	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	4477208	107911614	47358946	91	8500											
ZNF275	10838	broad.mit.edu	37	chrX	152613030	152613030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaagccatacgggtgtcCccactgcggcaagctcttcc	7	7	11	16	2	1	0	0	0	1	0	3	0	3	0	5	3	4	2	5	3	3	2	rs370916699		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:152613030C>T	ENST00000421401.3	+	4	1064	c.887C>T	c.(886-888)cCc>cTc	p.P296L	ZNF275_ENST00000370251.3_Missense_Mutation_p.P296L|ZNF275_ENST00000370249.2_Missense_Mutation_p.P243L|ZNF275_ENST00000440091.1_Missense_Mutation_p.P326L			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACGGGTGTCCCCACTGCGGC	0.682																																						uc011myn.2																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(697-699)cCc>cTc		Homo sapiens zinc finger protein 275 (ZNF275), mRNA.		C	LEU/PRO	1,3805		0,1,1617,570	16	18	17		887	-1.8	0	X		17	0,6704		0,0,2425,1854	no	missense	ZNF275	NM_001080485.3	98	0,1,4042,2424	TT,TC,CC,C		0.0,0.0263,0.0095	possibly-damaging	296/330	152613030	1,10509	2188	4279	6467	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152613030C>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.887C>T	X.37:g.152613030C>T	ENSP00000398977:p.Pro296Leu					ZNF275_uc004fhg.2_Missense_Mutation_p.P296L|ZNF275_uc022cht.1_Missense_Mutation_p.P233L|ZNF275_uc022chu.1_5'Flank	p.P233L	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN			1	1600	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		296					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.698C>T		.	.	.	.	.	.	.	.	.	.	C	3.648	-0.072043	0.07228	2.63E-4	0.0	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.54866	0.55;3.23;3.23;3.23	4.49	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.595728	0.14115	N	0.340475	T	0.27027	0.0662	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.13150	-1.0520	10	0.59425	D	0.04	-4.8402	0.4026	0.00428	0.2814:0.2073:0.1367:0.3745	.	296;296	Q9NSD4;A6NFS0	ZN275_HUMAN;.	L	296;296;326;243	ENSP00000359271:P296L;ENSP00000398977:P296L;ENSP00000411097:P326L;ENSP00000359269:P243L	ENSP00000359269:P243L	P	+	2	0	ZNF275	152266224	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	-1.699000	0.01906	-0.419000	0.07439	-0.422000	0.05995	CCC		0.682	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		T	152613030	C	T	152613030	3	4	123	1	0	0	0	0	1	0	0	0	17807	623	22	3	897	3	ZNF275	23	152613030	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	44701416	152613030	2657530	92	8501											
SLC10A3	8273	broad.mit.edu	37	chrX	153716308	153716308	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaacagcagggtcccCaggatcttggagatgggcac	11	6	14	10	0	1	2	0	1	1	1	2	4	2	3	2	4	2	3	2	4	2	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:153716308C>A	ENST00000393587.4	-	3	1235	c.972G>T	c.(970-972)ctG>ctT	p.L324L	UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000263512.4_Silent_p.L324L|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.L379L|SLC10A3_ENST00000369649.4_Silent_p.L295L|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	324					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGGTCCCCAGGATCTTGG	0.607																																						uc022cig.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(970-972)ctG>ctT		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.							64	65	65					X																	153716308		2203	4300	6503	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716308C>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.972G>T	X.37:g.153716308C>A						UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.L295L|SLC10A3_uc004flq.3_Silent_p.L324L|SLC10A3_uc004flp.3_Silent_p.L324L	p.L324L	NM_019848	NP_062822	P09131	P3_HUMAN			0	972	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		324					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.972G>T	CCDS14755.1																																																																																				0.607	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		A	153716308	C	A	153716308	2	1	123	1	0	0	0	0	0	0	0	1	14375	581	21	5		5	SLC10A3	23	153716308	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	1103278	153716308	1554252	93	8502											
FAM131C	348487	broad.mit.edu	37	chr1	16390042	16390042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacacagtctggagccaCggtgggagtgcggcccgagg	9	5	17	10	3	1	1	0	1	1	0	1	4	1	3	2	5	2	0	2	5	1	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:16390042C>T	ENST00000375662.4	-	2	295	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	FAM131C_ENST00000494078.1_Intron	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	38										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGAGCCACGGTGGGAGTG	0.632																																						uc001axz.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(112-114)Gtg>Atg		Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.							52	60	57					1																	16390042		2079	4188	6267	SO:0001583	missense	348487							g.chr1:16390042C>T		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.112G>A	1.37:g.16390042C>T	ENSP00000364814:p.Val38Met						p.V38M	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	1	302	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	38					Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	c.112G>A	CCDS41270.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170444	0.21621	.	.	ENSG00000185519	ENST00000375662	T	0.14766	2.48	5.25	-10.5	0.00291	.	2.858650	0.01043	N	0.004321	T	0.06690	0.0171	N	0.16478	0.41	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.18840	-1.0324	10	0.46703	T	0.11	13.5278	4.0318	0.09713	0.1041:0.4727:0.2087:0.2145	.	38	Q96AQ9	F131C_HUMAN	M	38	ENSP00000364814:V38M	ENSP00000364814:V38M	V	-	1	0	FAM131C	16262629	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.723000	0.00194	-2.662000	0.00418	-1.174000	0.01732	GTG		0.632	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		T	16390042	C	T	16390042	3	4	124	1	0	0	0	0	1	0	0	0	5441	536	19	1	754	1	FAM131C	1	16390042	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		16390042	232860579	1	8503											
RCAN3	11123	broad.mit.edu	37	chr1	24857822	24857822	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcggcagcaagagcgCgaatagaactccacgaaaca	16	3	11	11	4	0	3	0	1	0	2	1	5	1	3	1	1	5	2	1	1	6	1	rs535171467		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:24857822C>T	ENST00000374395.4	+	3	623	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RCAN3_ENST00000412742.2_Nonsense_Mutation_p.R104*|RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000436717.2_Nonsense_Mutation_p.R104*|RN7SL857P_ENST00000580228.1_RNA|RCAN3_ENST00000374393.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	104					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGCAAGAGCGCGAATAGAACT	0.413																																						uc021ojc.1																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(310-312)Cga>Tga		Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.							62	65	64					1																	24857822		2203	4300	6503	SO:0001587	stop_gained	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24857822C>T		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.310C>T	1.37:g.24857822C>T	ENSP00000363516:p.Arg104*					RCAN3_uc021ojd.1_5'UTR|RCAN3_uc021oje.1_Nonsense_Mutation_p.R104*|RCAN3_uc001bjj.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.3_Intron|RCAN3_uc021ojf.1_5'UTR|RCAN3_uc021ojg.1_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vrf.3_Nonsense_Mutation_p.R104*	p.R104*	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	2	482	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	104					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Nonsense_Mutation	SNP	ENST00000374395.4	37	c.310C>T	CCDS254.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559596	0.96514	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000412742	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.7291	14.926	0.70878	0.143:0.857:0.0:0.0	.	.	.	.	X	104	.	ENSP00000363516:R104X	R	+	1	2	RCAN3	24730409	1.000000	0.71417	0.685000	0.30070	0.971000	0.66376	5.439000	0.66556	2.748000	0.94277	0.650000	0.86243	CGA		0.413	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			T	24857822	C	T	24857822	4	4	124	1	0	0	0	0	0	1	0	0	13170	760	27	1	316	1	RCAN3	1	24857822	Nonsense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	8467780	24857822	224392799	2	8504											
GRIK3	2899	broad.mit.edu	37	chr1	37285426	37285426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccagggttgcaggggTgagcatcgtaccactcataa	10	7	14	10	2	1	1	1	1	0	0	2	2	1	2	2	4	4	4	2	4	2	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:37285426T>C	ENST00000373091.3	-	12	1800	c.1784A>G	c.(1783-1785)cAc>cGc	p.H595R	GRIK3_ENST00000373093.4_Missense_Mutation_p.H595R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	595					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTGCAGGGGTGAGCATCGTA	0.562																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1783-1785)cAc>cGc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						91	70	77					1																	37285426		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37285426T>C	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1784A>G	1.37:g.37285426T>C	ENSP00000362183:p.His595Arg					GRIK3_uc001cba.1_Missense_Mutation_p.H595R	p.H595R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			11	1919	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	595					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1784A>G	CCDS416.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260081	0.80246	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.97328	-4.34;-4.34	5.2	5.2	0.72013	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	M	0.72353	2.195	0.80722	D	1	D;D	0.67145	0.988;0.996	D;D	0.74674	0.962;0.984	D	0.99104	1.0844	10	0.87932	D	0	.	15.0731	0.72056	0.0:0.0:0.0:1.0	.	595;595	A9Z1Z8;Q13003	.;GRIK3_HUMAN	R	595	ENSP00000362183:H595R;ENSP00000362185:H595R	ENSP00000362183:H595R	H	-	2	0	GRIK3	37058013	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	8.036000	0.88901	1.943000	0.56356	0.379000	0.24179	CAC		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		C	37285426	T	C	37285426	3	2	124	1	0	0	0	0	1	0	0	0	6775	1696	59	4	995	4	GRIK3	1	37285426	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08	12427604	37285426	211965195	3	8505											
SLC44A5	204962	broad.mit.edu	37	chr1	75679448	75679448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtgcaatcactggcagtCtttgtgtgaagaataggaag	11	12	12	6	0	2	2	1	1	1	1	2	3	2	3	0	2	1	2	0	2	5	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:75679448C>G	ENST00000370855.5	-	22	2017	c.1904G>C	c.(1903-1905)aGa>aCa	p.R635T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.R505T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R635T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	635					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTGGCAGTCTTTGTGTGAA	0.378																																						uc010oqz.1																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2020-2022)aGa>aCa		Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.							95	90	92					1																	75679448		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75679448C>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1904G>C	1.37:g.75679448C>G	ENSP00000359892:p.Arg635Thr					SLC44A5_uc001dgt.2_Missense_Mutation_p.R635T|SLC44A5_uc001dgs.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgr.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgu.3_Missense_Mutation_p.R635T|SLC44A5_uc010ora.2_Missense_Mutation_p.R629T|SLC44A5_uc010orb.2_Missense_Mutation_p.R505T	p.R674T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN			20	2087	-			635					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.2021G>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588719	0.28357	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.19669	2.13;2.13;2.13	5.26	-0.0961	0.13638	.	0.410282	0.31697	N	0.007204	T	0.20740	0.0499	M	0.73598	2.24	0.09310	N	0.999996	P;D;P;P;D	0.54964	0.828;0.969;0.828;0.949;0.961	P;P;P;P;P	0.61477	0.821;0.889;0.821;0.848;0.823	T	0.14309	-1.0477	10	0.27785	T	0.31	-7.1634	9.8097	0.40815	0.0:0.5604:0.0:0.4396	.	629;674;635;635;674	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	635;674;635;505;628	ENSP00000359896:R635T;ENSP00000359892:R635T;ENSP00000443090:R505T	ENSP00000359892:R635T	R	-	2	0	SLC44A5	75452036	0.000000	0.05858	0.070000	0.20053	0.012000	0.07955	-0.358000	0.07641	0.024000	0.15214	0.585000	0.79938	AGA		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		G	75679448	C	G	75679448	3	3	124	1	0	0	0	0	1	0	0	0	14639	913	32	5	378	5	SLC44A5	1	75679448	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	38394022	75679448	173571173	4	8506											
HRNR	388697	broad.mit.edu	37	chr1	152187697	152187697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcctgatctagagccGtgttgtccgtagccagagga	8	10	13	10	2	1	3	0	1	1	2	3	5	3	4	4	1	2	2	4	1	2	3	rs558340256	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:152187697G>A	ENST00000368801.2	-	3	6483	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2136					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557													G|||	3	0.000599042	0.0023	0	5008	,	,		56528	0		0	False		,,,				2504	0					uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6406-6408)caC>caT		Homo sapiens hornerin (HRNR), mRNA.							100	110	106					1																	152187697		1607	3273	4880	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187697G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6408C>T	1.37:g.152187697G>A							p.H2136H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6484	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2136					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6408C>T	CCDS30859.1																																																																																				0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152187697	G	A	152187697	2	1	124	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152187697	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	76508249	152187697	97062924	5	8507											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	11	11	8	1	0	3	0	1	0	2	1	4	1	4	3	2	2	3	3	2	5	4			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						uc001has.1																			1	Substitution - coding silent(1)	p.R62R(2)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		Homo sapiens golgi transport 1A (GOLT1A), mRNA.							140	147	145					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T						GOLT1A_uc001hat.1_Silent_p.R62R	p.R62R	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		2	372	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		T	204170871	C	T	204170871	2	4	124	1	0	0	0	0	0	0	0	1	6570	726	26	3		3	GOLT1A	1	204170871	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	51983174	204170871	45079750	6	8508											
NID1	4811	broad.mit.edu	37	chr1	236189279	236189279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacgaacacgctgtccaccGagagctgctgggtgctgggc	7	6	16	12	3	0	1	0	0	0	1	1	4	1	2	2	3	4	4	2	3	1	0	rs147220938		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:236189279G>A	ENST00000264187.6	-	8	1983	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	NID1_ENST00000366595.3_Missense_Mutation_p.S634L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	634	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCTGTCCACCGAGAGCTGCTG	0.592																																						uc001hxo.3																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1900-1902)tCg>tTg		Homo sapiens nidogen 1 (NID1), mRNA.	Becaplermin(DB00102)|Urokinase(DB00013)	G	LEU/SER	0,4406		0,0,2203	168	154	159		1901	4.1	1	1	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense	NID1	NM_002508.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	634/1248	236189279	1,13005	2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236189279G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1901C>T	1.37:g.236189279G>A	ENSP00000264187:p.Ser634Leu					NID1_uc009xgd.3_Missense_Mutation_p.S634L	p.S634L	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		7	2003	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	634			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1901C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405789	0.62288	0.0	1.16E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.24908	1.83;1.83	5.02	4.09	0.47781	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.273858	0.41001	D	0.000974	T	0.35740	0.0942	M	0.65498	2.005	0.43499	D	0.995743	D;D	0.71674	0.998;0.957	P;B	0.50405	0.64;0.127	T	0.08700	-1.0709	10	0.35671	T	0.21	.	13.8538	0.63513	0.075:0.0:0.925:0.0	.	634;634	P14543-2;P14543	.;NID1_HUMAN	L	634	ENSP00000264187:S634L;ENSP00000355554:S634L	ENSP00000264187:S634L	S	-	2	0	NID1	234255902	1.000000	0.71417	0.959000	0.39883	0.998000	0.95712	4.548000	0.60718	2.600000	0.87896	0.655000	0.94253	TCG		0.592	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		A	236189279	G	A	236189279	3	1	124	1	0	0	0	0	1	0	0	0	10414	1059	37	2	1894	2	NID1	1	236189279	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	32018408	236189279	13061342	7	8509											
ZNF513	130557	broad.mit.edu	37	chr2	27600813	27600813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctctcctgtatggaCgcgctggtgccgtttcaggt	3	13	14	11	3	2	0	1	0	1	0	4	1	3	1	2	4	1	4	2	4	1	3	rs371898387		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:27600813C>T	ENST00000323703.6	-	4	1423	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	ZNF513_ENST00000407879.1_Missense_Mutation_p.V347I|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	409					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGGACGCGCTGGTGC	0.587																																						uc002rkk.3																			0		p.R408H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1225-1227)Gtc>Atc		Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123	130	128		1039,1225	4.3	0.9	2		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF513	NM_001201459.1,NM_144631.5	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	347/480,409/542	27600813	1,13005	2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600813C>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1225G>A	2.37:g.27600813C>T	ENSP00000318373:p.Val409Ile					ZNF513_uc002rkj.3_Missense_Mutation_p.V347I	p.V409I	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN			3	1443	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		409					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1225G>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	8.873	0.949807	0.18431	0.0	1.16E-4	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.08634	3.07;3.07	5.19	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000401	T	0.05914	0.0154	N	0.00801	-1.175	0.31686	N	0.642507	D	0.71674	0.998	D	0.74348	0.983	T	0.21042	-1.0257	10	0.02654	T	1	-11.2677	12.5498	0.56220	0.0:0.9194:0.0:0.0806	.	409	Q8N8E2	ZN513_HUMAN	I	409;347	ENSP00000318373:V409I;ENSP00000384874:V347I	ENSP00000318373:V409I	V	-	1	0	ZNF513	27454317	1.000000	0.71417	0.877000	0.34402	0.388000	0.30384	4.811000	0.62606	1.431000	0.47355	-0.136000	0.14681	GTC		0.587	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		T	27600813	C	T	27600813	3	4	124	1	0	0	0	0	1	0	0	0	17955	536	19	1	404	1	ZNF513	2	27600813	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		27600813	215598560	8	8510											
IL1R1	3554	broad.mit.edu	37	chr2	102791960	102791960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatggaaagacctatgaCgcatatatactgtatccaaa	16	10	7	8	1	1	3	1	1	0	2	2	4	2	4	2	1	1	2	2	1	7	5	rs113665542	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:102791960C>T	ENST00000410023.1	+	11	1476	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	IL1R1_ENST00000424272.1_Silent_p.D386D|IL1R1_ENST00000409288.1_Silent_p.D386D|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.D386D|IL1R1_ENST00000233946.3_Silent_p.D386D|IL1R1_ENST00000409929.1_Intron|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	386	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGACCTATGACGCATATATAC	0.363													c|||	12	0.00239617	0.0083	0	5008	,	,		19186	0		0.001	False		,,,				2504	0					uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1156-1158)gaC>gaT		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)			40,4366	43.8+/-77.6	0,40,2163	267	249	255		1158	1.4	1	2	dbSNP_132	255	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	IL1R1	NM_000877.2		0,46,6457	TT,TC,CC		0.0698,0.9079,0.3537		386/570	102791960	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102791960C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1158C>T	2.37:g.102791960C>T						IL1R1_uc010fix.3_Intron|IL1R1_uc002tbr.3_Silent_p.D386D	p.D386D	NM_000877	NP_000868	P14778	IL1R1_HUMAN			10	1476	+			386			TIR.		Q587I7	Silent	SNP	ENST00000410023.1	37	c.1158C>T	CCDS2055.1																																																																																				0.363	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			T	102791960	C	T	102791960	2	4	124	1	0	0	0	0	0	0	0	1	7658	535	19	1		1	IL1R1	2	102791960	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	75191147	102791960	140407413	9	8511											
ANKAR	150709	broad.mit.edu	37	chr2	190603404	190603404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacttctactattgtcttGacaggtaagaaatgactaga	14	12	8	7	0	2	5	0	2	2	3	2	5	2	5	0	1	1	1	0	1	5	7			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:190603404G>A	ENST00000520309.1	+	19	3784	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.L1232L|ANKAR_ENST00000431575.2_Silent_p.L1161L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1232						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATTGTCTTGACAGGTAAGA	0.294																																						uc002uqw.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3694-3696)ttG>ttA		Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.							109	105	106					2																	190603404		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603404G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3696G>A	2.37:g.190603404G>A						ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.L328L	p.L1232L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		18	3784	+			1232					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3696G>A	CCDS33351.2																																																																																				0.294	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		A	190603404	G	A	190603404	2	1	124	1	0	0	0	0	0	0	0	1	623	1281	45	3		3	ANKAR	2	190603404	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	87811444	190603404	52595969	10	8512											
ITPR1	3708	broad.mit.edu	37	chr3	4669476	4669476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagctatgtcccatgaacCgctactctgcccaaaagcag	12	9	7	13	1	1	1	0	1	1	0	2	1	2	1	3	0	5	3	3	0	6	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:4669476C>T	ENST00000443694.2	+	3	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ITPR1_ENST00000302640.8_Missense_Mutation_p.R65C|ITPR1_ENST00000544951.1_Missense_Mutation_p.R65C|ITPR1_ENST00000423119.2_Missense_Mutation_p.R65C|ITPR1_ENST00000357086.4_Missense_Mutation_p.R65C|ITPR1_ENST00000456211.2_Missense_Mutation_p.R65C|ITPR1_ENST00000354582.6_Missense_Mutation_p.R65C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	65					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCCCATGAACCGCTACTCTGC	0.468																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(193-195)Cgc>Tgc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							148	143	145					3																	4669476		1985	4201	6186	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4669476C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.193C>T	3.37:g.4669476C>T	ENSP00000401671:p.Arg65Cys					ITPR1_uc010hbz.3_Missense_Mutation_p.R65C|ITPR1_uc021wsi.1_Missense_Mutation_p.R65C|ITPR1_uc021wsj.1_Missense_Mutation_p.R65C|ITPR1_uc011asu.2_Missense_Mutation_p.R65C	p.R65C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	4	543	+			65					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.193C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009816	0.75046	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	5.66	5.66	0.87406	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.92604	3.325	0.51482	D	0.999927	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.996;1.0;0.996;0.99	D	0.98974	1.0802	10	0.87932	D	0	.	14.2147	0.65786	0.1494:0.8506:0.0:0.0	.	65;65;65;65;65	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	C	65	ENSP00000306253:R65C;ENSP00000346595:R65C;ENSP00000405934:R65C;ENSP00000349597:R65C;ENSP00000397885:R65C;ENSP00000440564:R65C;ENSP00000401671:R65C	ENSP00000306253:R65C	R	+	1	0	ITPR1	4644476	0.986000	0.35501	0.995000	0.50966	0.999000	0.98932	2.271000	0.43364	2.669000	0.90835	0.655000	0.94253	CGC		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4669476	C	T	4669476	3	4	124	1	0	0	0	0	1	0	0	0	7920	652	23	2	203	2	ITPR1	3	4669476	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		4669476	193352954	11	8513											
CHST2	9435	broad.mit.edu	37	chr3	142840212	142840212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttcggcgagctattcaAccagaatcccgaggtgttct	8	12	10	11	3	3	1	1	0	2	1	5	3	4	1	2	2	2	3	2	2	3	5			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:142840212A>G	ENST00000309575.3	+	2	1938	c.554A>G	c.(553-555)aAc>aGc	p.N185S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	185					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGCTATTCAACCAGAATCCC	0.622																																						uc003evm.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(553-555)aAc>aGc		Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.							47	58	54					3																	142840212		2202	4300	6502	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840212A>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.554A>G	3.37:g.142840212A>G	ENSP00000307911:p.Asn185Ser					CHST2_uc021xex.1_Missense_Mutation_p.N185S	p.N185S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			1	1493	+			185					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.554A>G	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628754	0.67015	.	.	ENSG00000175040	ENST00000309575	D	0.81499	-1.5	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.85678	0.5752	L	0.51914	1.62	0.58432	D	0.999997	D	0.69078	0.997	D	0.80764	0.994	D	0.84880	0.0830	10	0.37606	T	0.19	-10.0972	13.8553	0.63522	1.0:0.0:0.0:0.0	.	185	Q9Y4C5	CHST2_HUMAN	S	185	ENSP00000307911:N185S	ENSP00000307911:N185S	N	+	2	0	CHST2	144322902	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.230000	0.65321	1.859000	0.53934	0.334000	0.21626	AAC		0.622	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		G	142840212	A	G	142840212	3	3	124	1	0	0	0	0	1	0	0	0	3404	43	2	4	556	4	CHST2	3	142840212	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08	138170736	142840212	55182218	12	8514											
SH3RF1	57630	broad.mit.edu	37	chr4	170190261	170190261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgatccccagcaaacatcGcttgcaaaacgtatgctggc	12	8	8	13	3	0	0	0	0	0	0	2	1	1	0	2	1	6	5	2	1	5	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr4:170190261G>C	ENST00000284637.9	-	2	444	c.103C>G	c.(103-105)Cga>Gga	p.R35G	SH3RF1_ENST00000508685.1_5'Flank	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	35					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGCAAACATCGCTTGCAAAAC	0.517																																						uc003isa.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(103-105)Cga>Gga		Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.							67	63	65					4																	170190261		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170190261G>C	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.103C>G	4.37:g.170190261G>C	ENSP00000284637:p.Arg35Gly						p.R35G	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	1	438	-		Prostate(90;0.00267)|Renal(120;0.0183)	35					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.103C>G	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459012	0.43634	.	.	ENSG00000154447	ENST00000284637;ENST00000502315;ENST00000510806	D;D;D	0.86030	-2.06;-2.06;-2.06	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	N	0.25380	0.74	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.88398	0.3013	10	0.66056	D	0.02	-12.7594	15.0211	0.71632	0.0:0.0:0.8572:0.1428	.	35	Q7Z6J0	SH3R1_HUMAN	G	35	ENSP00000284637:R35G;ENSP00000427585:R35G;ENSP00000421714:R35G	ENSP00000284637:R35G	R	-	1	2	SH3RF1	170426836	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	5.528000	0.67129	2.576000	0.86940	0.655000	0.94253	CGA		0.517	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		C	170190261	G	C	170190261	3	2	124	1	0	0	0	0	1	0	0	0	14258	1095	38	5	2607	5	SH3RF1	4	170190261	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		170190261	20964015	13	8515											
PCDHA3	56145	broad.mit.edu	37	chr5	140181796	140181796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcactgcacagttctactCgaaattgtggacatcaatga	13	11	8	9	1	3	1	2	1	1	0	4	4	3	2	0	1	2	2	0	1	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140181796C>T	ENST00000522353.2	+	1	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1012-1014)ctC>ctT		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							172	171	172					5																	140181796		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181796C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1014C>T	5.37:g.140181796C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L338L	p.L338L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1014	+			353			Cadherin 3.		O75286	Silent	SNP	ENST00000522353.2	37	c.1014C>T	CCDS54915.1																																																																																				0.398	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140181796	C	T	140181796	2	4	124	1	0	0	0	0	0	0	0	1	11525	871	31	2		2	PCDHA3	5	140181796	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08		140181796	40733464	14	8516											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741377	140741377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgacctcaatgacaatGcgccacgggtgctgtacccc	8	7	12	14	3	1	1	1	1	0	0	1	2	1	1	4	2	3	2	4	2	3	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140741377G>A	ENST00000522605.1	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGACAATGCGCCACGGGT	0.692																																						uc003ljs.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1675-1677)Gcg>Acg		Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.							32	39	37					5																	140741377		2093	4230	6323	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741377G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1675G>A	5.37:g.140741377G>A	ENSP00000429018:p.Ala559Thr					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A559T|PCDHGC5_uc011das.2_5'Flank	p.A559T	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1675	+			561			Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1675G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251326	0.22880	.	.	ENSG00000253910	ENST00000522605	T	0.02682	4.2	5.11	3.3	0.37823	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	L	0.55743	1.74	0.22185	N	0.999303	P;P	0.52316	0.794;0.952	B;P	0.52598	0.444;0.703	T	0.30031	-0.9992	9	0.41790	T	0.15	.	7.8512	0.29455	0.0754:0.0:0.6389:0.2857	.	559;559	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	559	ENSP00000429018:A559T	ENSP00000429018:A559T	A	+	1	0	PCDHGB2	140721561	0.002000	0.14202	0.850000	0.33497	0.013000	0.08279	0.372000	0.20467	0.633000	0.30452	0.460000	0.39030	GCG		0.692	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140741377	G	A	140741377	3	1	124	1	0	0	0	0	1	0	0	0	11563	1319	46	3	1677	3	PCDHGB2	5	140741377	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	559581	140741377	40173883	15	8517											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070180	176070180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagaaaagtctccaaactCtcccaggactttgctgtctc	11	10	8	12	0	3	1	0	0	3	1	6	3	3	2	2	2	2	1	2	2	3	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:176070180C>G	ENST00000318682.6	+	4	697	c.113C>G	c.(112-114)tCt>tGt	p.S38C	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.S38C	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	38					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAACTCTCCCAGGACT	0.612																																						uc010jkf.1																			0				breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(112-114)tCt>tGt		Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.							47	58	54					5																	176070180		1936	4140	6076	SO:0001583	missense	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176070180C>G		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.113C>G	5.37:g.176070180C>G	ENSP00000323714:p.Ser38Cys						p.S38C	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	697	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	38						Missense_Mutation	SNP	ENST00000318682.6	37	c.113C>G	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520152	0.27211	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T	0.47869	0.83;0.83	4.11	-0.149	0.13420	Translation Initiation factor eIF- 4e-like  domain (1);	.	.	.	.	T	0.23846	0.0577	N	0.14661	0.345	0.09310	N	1	D	0.54047	0.964	B	0.40602	0.334	T	0.15780	-1.0425	9	0.62326	D	0.03	.	1.7229	0.02915	0.3847:0.3286:0.1747:0.112	.	38	A6NMX2	I4E1B_HUMAN	C	38	ENSP00000323714:S38C;ENSP00000427633:S38C	ENSP00000323714:S38C	S	+	2	0	EIF4E1B	176002786	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.115000	0.10741	0.062000	0.16340	0.561000	0.74099	TCT		0.612	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		G	176070180	C	G	176070180	3	3	124	1	0	0	0	0	1	0	0	0	5029	913	32	5	119	5	EIF4E1B	5	176070180	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	35328803	176070180	4845080	16	8518											
SLC17A2	10246	broad.mit.edu	37	chr6	25917030	25917030	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccaaagtggtaggcaTgtgaccatcgcctttatggg	9	10	13	9	1	0	1	0	1	0	0	1	1	0	1	3	4	0	2	3	4	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:25917030T>A	ENST00000265425.3	-	7	833	c.813A>T	c.(811-813)acA>acT	p.T271T	SLC17A2_ENST00000377850.3_Silent_p.T271T|SLC17A2_ENST00000360488.3_Silent_p.T271T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	271					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTAGGCATGTGACCATCG	0.478																																						uc011dkb.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(811-813)acA>acT		Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.							112	101	104					6																	25917030		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25917030T>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.813A>T	6.37:g.25917030T>A						SLC17A2_uc011dkc.2_Silent_p.T271T|SLC17A2_uc003nfl.3_Silent_p.T271T	p.T271T			O00624	NPT3_HUMAN			6	896	-			271					A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.813A>T																																																																																					0.478	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			A	25917030	T	A	25917030	2	1	124	1	0	0	0	0	0	0	0	1	14417	1451	51	5		5	SLC17A2	6	25917030	Silent	SNP	T	TCGA-12-5299-01A-02D-1486-08		25917030	145198037	17	8519											
DNAH8	1769	broad.mit.edu	37	chr6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctggatatgctgggcGccaggaactaccagaaaacc	13	5	11	12	1	0	1	0	0	0	1	0	4	0	3	4	3	5	1	4	3	6	2	rs139579198		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:38834386G>A	ENST00000359357.3	+	44	6121	c.5867G>A	c.(5866-5868)cGc>cAc	p.R1956H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2173H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1956H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1956	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1956H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGCTGGGCGCCAGGAACTA	0.323																																						uc021yzh.1																			2	Substitution - Missense(2)	p.R1956H(2)	prostate(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6517-6519)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							64	65	65					6																	38834386		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38834386G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5867G>A	6.37:g.38834386G>A	ENSP00000352312:p.Arg1956His					DNAH8_uc003ooe.2_Missense_Mutation_p.R1956H	p.R2173H	NM_001206927	NP_001193856					45	6627	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6518G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.374909|5.374909	0.95923|0.95923	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000394393|ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.|T;T;T	.|0.15017	.|2.46;2.46;2.46	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54303|0.54303	0.1850|0.1850	H|H	0.96142|0.96142	3.775|3.775	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.67998|0.67998	-0.5525|-0.5525	5|10	.|0.87932	.|D	.|0	.|.	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1956	.|Q96JB1	.|DYH8_HUMAN	T|H	38|2161;2161;1956;1956	.|ENSP00000333363:R2161H;ENSP00000352312:R1956H;ENSP00000402294:R1956H	.|ENSP00000333363:R2161H	A|R	+|+	1|2	0|0	DNAH8|DNAH8	38942364|38942364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.803000|9.803000	0.99136|0.99136	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38834386	G	A	38834386	3	1	124	1	0	0	0	0	1	0	0	0	4607	1087	38	1	6033	1	DNAH8	6	38834386	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	12917356	38834386	132280681	18	8520											
SDK1	221935	broad.mit.edu	37	chr7	4116751	4116751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacctacaccatcgaCgtggccgctgtgactgccgt	7	8	9	17	4	1	1	1	1	0	0	2	2	1	1	5	1	2	1	5	1	1	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:4116751C>T	ENST00000404826.2	+	21	3271	c.3132C>T	c.(3130-3132)gaC>gaT	p.D1044D	SDK1_ENST00000389531.3_Silent_p.D1044D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1044	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCATCGACGTGGCCGCTG	0.587																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3130-3132)gaC>gaT		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							136	106	116					7																	4116751		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4116751C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3132C>T	7.37:g.4116751C>T						SDK1_uc010kso.3_Silent_p.D320D	p.D1044D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	20	3271	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1044			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3132C>T	CCDS34590.1																																																																																				0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4116751	C	T	4116751	2	4	124	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4116751	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08		4116751	155021912	19	8521											
RHBDD2	57414	broad.mit.edu	37	chr7	75517607	75517607	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggcacggtgtattctggGgccttgggcacaccaggggc	5	8	16	12	1	1	0	0	0	1	0	1	0	1	0	3	7	0	3	3	7	1	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:75517607G>T	ENST00000006777.6	+	4	1170	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	RHBDD2_ENST00000318622.4_Silent_p.G204G|RHBDD2_ENST00000428119.1_Silent_p.G204G|RHBDD2_ENST00000468304.1_3'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	345						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TGTATTCTGGGGCCTTGGGCA	0.622																																						uc003udw.1																			0				kidney(1)|lung(4)|prostate(1)	6						c.(1033-1035)ggG>ggT		Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.							61	66	64					7																	75517607		1895	4109	6004	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517607G>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.1035G>T	7.37:g.75517607G>T						RHBDD2_uc003udv.1_Silent_p.G204G	p.G345G	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN			3	1119	+			345					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.1035G>T	CCDS43602.1																																																																																				0.622	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		T	75517607	G	T	75517607	2	4	124	1	0	0	0	0	0	0	0	1	13317	1219	43	5		5	RHBDD2	7	75517607	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	71400856	75517607	83621056	20	8522											
KCNH2	3757	broad.mit.edu	37	chr7	150649546	150649546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccgaagatgagcaggtcGaaggggatggcggccaccat	11	4	17	9	3	0	2	0	1	0	1	1	6	0	3	3	5	2	1	3	5	2	0	rs555601424		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:150649546G>A	ENST00000262186.5	-	6	1925	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH2_ENST00000392968.2_Silent_p.F412F|KCNH2_ENST00000330883.4_Silent_p.F168F|KCNH2_ENST00000430723.3_Silent_p.F508F	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	508			Missing (in LQT2).		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGAGCAGGTCGAAGGGGATGG	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		19120	0		0	False		,,,				2504	0				GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1522-1524)ttC>ttT		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						87	74	78					7																	150649546		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649546G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1524C>T	7.37:g.150649546G>A						KCNH2_uc003wib.3_Silent_p.F168F|KCNH2_uc011kux.2_Silent_p.F412F|KCNH2_uc003wid.3_Silent_p.F168F|KCNH2_uc003wie.3_Silent_p.F508F	p.F508F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1925	-	all_neural(206;0.219)		508		Missing (in LQT2).			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.1524C>T	CCDS5910.1																																																																																				0.627	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		A	150649546	G	A	150649546	2	1	124	1	0	0	0	0	0	0	0	1	8032	1049	37	2		2	KCNH2	7	150649546	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	75131939	150649546	8489117	21	8523											
EPPK1	83481	broad.mit.edu	37	chr8	144941723	144941723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagggcaccgtgacccccGcaatgcagccgctgccttcc	6	6	12	17	3	0	1	0	1	0	0	1	2	1	2	6	2	3	4	6	2	1	1	rs200834681	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr8:144941723G>A	ENST00000525985.1	-	2	5770	c.5699C>T	c.(5698-5700)gCg>gTg	p.A1900V				P58107	EPIPL_HUMAN	epiplakin 1	1900						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGACCCCCGCAATGCAGCC	0.632													G|||	3	0.000599042	0.0015	0	5008	,	,		18952	0		0.001	False		,,,				2504	0					uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5698-5700)gCg>gTg		Homo sapiens epiplakin 1 (EPPK1), mRNA.		G	VAL/ALA	1,4191		0,1,2095	25	27	26		5699	5.1	0.6	8		26	5,8417		0,5,4206	yes	missense	EPPK1	NM_031308.1	64	0,6,6301	AA,AG,GG		0.0594,0.0239,0.0476	probably-damaging	1900/2420	144941723	6,12608	2096	4211	6307	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941723G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5699C>T	8.37:g.144941723G>A	ENSP00000436337:p.Ala1900Val						p.A1900V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	5712	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1900					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5699C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.197366	0.94960	2.39E-4	5.94E-4	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	5.1	5.1	0.69264	.	.	.	.	.	D	0.85388	0.5685	M	0.75884	2.315	0.46376	D	0.999015	D	0.89917	1.0	D	0.91635	0.999	D	0.85173	0.0999	9	0.45353	T	0.12	.	16.0335	0.80603	0.0:0.0:1.0:0.0	.	1900	E9PPU0	.	V	1900	ENSP00000436337:A1900V	ENSP00000436337:A1900V	A	-	2	0	EPPK1	145013711	1.000000	0.71417	0.570000	0.28473	0.023000	0.10783	6.422000	0.73357	2.648000	0.89879	0.585000	0.79938	GCG		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144941723	G	A	144941723	3	1	124	1	0	0	0	0	1	0	0	0	5190	1087	38	1	1567	1	EPPK1	8	144941723	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		144941723	1422299	22	8524											
PTPRD	5789	broad.mit.edu	37	chr9	8492897	8492897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccagtttgggcttgctgCgagcaccatctcctttggtt	6	13	10	12	1	1	0	0	0	1	0	2	1	1	0	3	2	3	5	3	2	0	4	rs544419494		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:8492897C>T	ENST00000381196.4	-	24	2975	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PTPRD_ENST00000540109.1_Missense_Mutation_p.R811H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R811H|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R798H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R789H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	811	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCTTGCTGCGAGCACCATC	0.463										TSP Lung(15;0.13)			C|||	1	0.000199681	0	0	5008	,	,		17761	0		0	False		,,,				2504	0.001					uc003zkk.3																			0		p.R811C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2431-2433)cGc>cAc		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							232	187	202					9																	8492897		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8492897C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2432G>A	9.37:g.8492897C>T	ENSP00000370593:p.Arg811His	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.R811H	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	26	3175	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	811			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2432G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127187	0.77549	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.54279	0.58;0.58;0.58;2.28;0.58	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.977	P;D;P	0.87578	0.811;0.998;0.693	T	0.74172	-0.3751	9	.	.	.	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	798;811;811	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	811;811;798;789;811	ENSP00000370593:R811H;ENSP00000348812:R811H;ENSP00000353187:R798H;ENSP00000351293:R789H;ENSP00000438164:R811H	.	R	-	2	0	PTPRD	8482897	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.454000	0.82982	0.484000	0.47621	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8492897	C	T	8492897	3	4	124	1	0	0	0	0	1	0	0	0	12799	768	27	1	3454	1	PTPRD	9	8492897	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		8492897	132720534	23	8525											
KCNT1	57582	broad.mit.edu	37	chr9	138676650	138676650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatccgcacgtacggccGcctcttccagaagctctgct	6	9	11	15	4	2	1	0	0	2	1	4	2	4	2	4	2	3	4	4	2	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:138676650G>A	ENST00000263604.3	+	27	3014	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	KCNT1_ENST00000298480.5_Missense_Mutation_p.R1024H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R1024H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R1005H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R983H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R1003H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R991H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R979H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1005					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGTACGGCCGCCTCTTCCAG	0.637																																						uc011mdq.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3070-3072)cGc>cAc		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							71	75	73					9																	138676650		2203	4299	6502	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138676650G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3014G>A	9.37:g.138676650G>A	ENSP00000263604:p.Arg1005His					KCNT1_uc011mdr.2_Missense_Mutation_p.R851H|KCNT1_uc010nbf.3_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	p.R1024H	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	26	3145	+		Myeloproliferative disorder(178;0.0821)	1024					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.3071G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996388	0.93167	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	D	0.85737	0.5766	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.63046	0.987;0.977;0.992;0.987	P;P;P;P	0.54815	0.581;0.481;0.761;0.581	D	0.88832	0.3306	10	0.66056	D	0.02	-20.974	16.5037	0.84263	0.0:0.0:1.0:0.0	.	991;1024;979;1005	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	979;1024;1024;983;991;1005;1003;1005	ENSP00000417851:R979H;ENSP00000298480:R1024H;ENSP00000360822:R1024H;ENSP00000263604:R1005H	ENSP00000263604:R1005H	R	+	2	0	KCNT1	137816471	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.161000	0.94739	1.871000	0.54225	0.462000	0.41574	CGC		0.637	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138676650	G	A	138676650	3	1	124	1	0	0	0	0	1	0	0	0	8091	1087	38	1	3177	1	KCNT1	9	138676650	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	130183753	138676650	2536781	24	8526											
OPN4	94233	broad.mit.edu	37	chr10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcatttgtcctgctgggcGtttggctctatgccctggcc	2	13	13	13	2	1	0	0	0	1	0	2	0	2	0	3	4	2	4	3	4	1	3	rs368062538		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr10:88418396G>A	ENST00000241891.5	+	4	747	c.580G>A	c.(580-582)Gtt>Att	p.V194I	OPN4_ENST00000372071.2_Missense_Mutation_p.V205I	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	194					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		19596	0		0	False		,,,				2504	0					uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(613-615)Gtt>Att		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	74	69	71		580,613	3.3	0.8	10		71	0,8600		0,0,4300	no	missense,missense	OPN4	NM_033282.3,NM_001030015.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	194/479,205/490	88418396	1,13005	2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418396G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.580G>A	10.37:g.88418396G>A	ENSP00000241891:p.Val194Ile					OPN4_uc001kdp.3_Missense_Mutation_p.V205I|OPN4_uc001kdq.3_Missense_Mutation_p.V194I|OPN4_uc009xsx.1_5'Flank	p.V205I	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN			4	840	+			194					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.613G>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884347	0.51908	2.27E-4	0.0	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.73152	-0.72;-0.72;-0.72	5.22	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.220957	0.38217	N	0.001773	T	0.56848	0.2013	L	0.35288	1.05	0.39913	D	0.974053	B;B;B	0.27951	0.195;0.115;0.082	B;B;B	0.29524	0.103;0.072;0.014	T	0.49224	-0.8962	10	0.25106	T	0.35	.	10.0691	0.42322	0.1727:0.0:0.8273:0.0	.	205;194;205	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	I	205;194;205	ENSP00000361141:V205I;ENSP00000241891:V194I;ENSP00000393132:V205I	ENSP00000241891:V194I	V	+	1	0	OPN4	88408376	1.000000	0.71417	0.782000	0.31804	0.934000	0.57294	3.904000	0.56325	0.545000	0.28902	0.561000	0.74099	GTT		0.647	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		A	88418396	G	A	88418396	3	1	124	1	0	0	0	0	1	0	0	0	10882	1145	40	1	631	1	OPN4	10	88418396	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		88418396	47116351	25	8527											
SCUBE2	57758	broad.mit.edu	37	chr11	9074727	9074727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcagtgcagggacacacGgggtgacacacttgtgggca	10	5	15	11	2	0	1	0	1	0	0	0	2	0	2	1	4	1	3	1	4	0	1	rs77907325	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:9074727G>A	ENST00000309263.3	-	12	1438	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R456C|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R456C			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	456						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGGACACACGGGGTGACACA	0.537													G|||	2	0.000399361	0	0	5008	,	,		19896	0.002		0	False		,,,				2504	0					uc001mhi.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1366-1368)Cgt>Tgt		Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.		G	,CYS/ARG	0,4402		0,0,2201	86	70	75		,1366	4.8	0.4	11	dbSNP_131	75	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense	SCUBE2	NM_001170690.1,NM_020974.2	,180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,456/972	9074727	1,12993	2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9074727G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1366C>T	11.37:g.9074727G>A	ENSP00000310658:p.Arg456Cys					SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	p.R456C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	11	1441	-			456					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1366C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.31	3.596022	0.66332	0.0	1.16E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;T;D	0.81908	-1.37;-1.43;-1.55	5.82	4.83	0.62350	.	0.488222	0.24683	N	0.036442	T	0.77485	0.4137	N	0.12961	0.28	0.43527	D	0.995809	D;D	0.60160	0.987;0.977	P;P	0.51229	0.663;0.462	T	0.80609	-0.1306	10	0.66056	D	0.02	.	13.613	0.62091	0.0:0.0:0.7354:0.2646	.	456;456	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	C	456	ENSP00000390481:R456C;ENSP00000310658:R456C;ENSP00000429969:R456C	ENSP00000310658:R456C	R	-	1	0	SCUBE2	9031303	0.947000	0.32204	0.391000	0.26233	0.801000	0.45260	1.574000	0.36482	2.756000	0.94617	0.561000	0.74099	CGT		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		A	9074727	G	A	9074727	3	1	124	1	0	0	0	0	1	0	0	0	13945	1116	39	2	1768	2	SCUBE2	11	9074727	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		9074727	125931789	26	8528											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985881	117985881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatactgctgcaggcGtcagtccaggtcattgacag	9	10	11	11	1	3	2	2	2	1	0	4	2	4	2	1	2	3	2	1	2	1	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:117985881G>A	ENST00000437212.3	+	11	1252	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_ENST00000534111.1_Silent_p.A344A|TMPRSS4_ENST00000522307.1_Silent_p.A199A|TMPRSS4_ENST00000518413.2_Intron|TMPRSS4_ENST00000523251.1_Silent_p.A306A|TMPRSS4_ENST00000522824.1_Silent_p.A341A			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552																																						uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(1036-1038)gcG>gcA		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.							90	70	77					11																	117985881		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117985881G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1038G>A	11.37:g.117985881G>A						TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	p.A346A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	10	1329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	346			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.1038G>A	CCDS31684.1																																																																																				0.552	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		A	117985881	G	A	117985881	2	1	124	1	0	0	0	0	0	0	0	1	16246	1132	40	1		1	TMPRSS4	11	117985881	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	108911154	117985881	17020635	27	8529											
MFRP	83552	broad.mit.edu	37	chr11	119216274	119216274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacacgcagtgggtgttgGgggggtaagggtctgggtag	6	8	21	6	1	1	0	0	0	1	0	1	0	1	0	1	6	0	4	1	6	2	3	rs200251814		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:119216274G>C	ENST00000530681.1	-	5	641	c.497C>G	c.(496-498)cCc>cGc	p.P166R	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.P166R|MFRP_ENST00000449574.2_Missense_Mutation_p.P166R|MFRP_ENST00000360167.4_Missense_Mutation_p.P166R|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	166	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GTGGGTGTTGGGGGGGTAAGG	0.567																																						uc010rzg.1																			0				endometrium(1)|lung(2)	3						c.(496-498)cCc>cGc		Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.							51	50	50					11																	119216274		2199	4295	6494	SO:0001583	missense	83552				embryo development	integral to membrane		g.chr11:119216274G>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.497C>G	11.37:g.119216274G>C	ENSP00000456533:p.Pro166Arg					C1QTNF5_uc001pwj.2_5'UTR	p.P166R			Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	4	657	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	166			CUB 1.		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.497C>G	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318150	0.40996	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.30714	1.52;1.52;1.52	4.0	3.09	0.35607	CUB (5);	0.202171	0.42053	D	0.000771	T	0.46814	0.1412	L	0.58510	1.815	0.47659	D	0.999487	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.38178	-0.9673	10	0.52906	T	0.07	-9.1363	8.724	0.34458	0.0821:0.0:0.7691:0.1488	.	166;166	B4DHN8;Q9BY79	.;MFRP_HUMAN	R	166	ENSP00000450509:P166R;ENSP00000391664:P166R;ENSP00000353291:P166R	ENSP00000353291:P166R	P	-	2	0	MFRP	118721484	1.000000	0.71417	0.862000	0.33874	0.486000	0.33341	4.144000	0.58057	1.030000	0.39839	-0.291000	0.09656	CCC		0.567	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		C	119216274	G	C	119216274	3	2	124	1	0	0	0	0	1	0	0	0	9526	1232	43	5	1278	5	MFRP	11	119216274	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	1230393	119216274	15790242	28	8530											
POU2F3	25833	broad.mit.edu	37	chr11	120168973	120168973	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcttgcttccacttgcaGattaaaaccgaagatctcag	11	12	6	12	1	2	2	1	0	2	2	5	3	4	2	3	0	3	2	3	0	3	4			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:120168973G>C	ENST00000543440.2	+	4	282		c.e4-1		POU2F3_ENST00000260264.4_Splice_Site	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3						epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCACTTGCAGATTAAAACCG	0.547																																						uc021qrk.1																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.e4-1		Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.							278	273	275					11																	120168973		2203	4300	6503	SO:0001630	splice_region_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120168973G>C	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.133-1G>C	11.37:g.120168973G>C						POU2F3_uc001pxc.3_Splice_Site_p.I45_splice|POU2F3_uc010rzk.2_Splice_Site|POU2F3_uc010rzl.2_Splice_Site	p.I47_splice	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	173	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	45					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Splice_Site	SNP	ENST00000543440.2	37	c.139_splice	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009842	0.75046	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3414	0.83083	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU2F3	119674183	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.932000	0.87634	2.319000	0.78375	0.655000	0.94253	.		0.547	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		Intron	C	120168973	G	C	120168973	5	2	124	1	0	0	0	0	0	0	1	0	12273	956	33	5	146	5	POU2F3	11	120168973	Splice_Site	SNP	G	TCGA-12-5299-01A-02D-1486-08	952699	120168973	14837543	29	8531											
ZNF202	7753	broad.mit.edu	37	chr11	123600382	123600382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgctgctctgccggtgccCccagatctgggctctgtgtg	3	10	14	14	2	3	1	0	0	3	1	3	2	3	1	3	2	3	3	3	2	0	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:123600382C>A	ENST00000529691.1	-	3	773	c.554G>T	c.(553-555)gGg>gTg	p.G185V	ZNF202_ENST00000336139.4_Missense_Mutation_p.G185V|ZNF202_ENST00000530393.1_Missense_Mutation_p.G185V			O95125	ZN202_HUMAN	zinc finger protein 202	185					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGCCGGTGCCCCCAGATCTGG	0.607																																						uc001pzd.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(553-555)gGg>gTg		Homo sapiens zinc finger protein 202 (ZNF202), mRNA.							56	50	52					11																	123600382		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123600382C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.554G>T	11.37:g.123600382C>A	ENSP00000433881:p.Gly185Val					ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G185V|ZNF202_uc001pzf.1_Missense_Mutation_p.G185V	p.G185V	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	4	954	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	185					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.554G>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	7.915	0.737276	0.15574	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06687	3.27;3.27;3.27	5.32	2.33	0.28932	.	0.569626	0.14802	N	0.297568	T	0.05640	0.0148	L	0.29908	0.895	0.37933	D	0.932082	B	0.32968	0.392	B	0.29716	0.106	T	0.43442	-0.9391	10	0.30854	T	0.27	-12.761	6.107	0.20079	0.0:0.6683:0.0:0.3317	.	185	O95125	ZN202_HUMAN	V	185	ENSP00000337724:G185V;ENSP00000432504:G185V;ENSP00000433881:G185V	ENSP00000337724:G185V	G	-	2	0	ZNF202	123105592	0.000000	0.05858	0.200000	0.23457	0.436000	0.31835	0.245000	0.18142	0.567000	0.29293	0.557000	0.71058	GGG		0.607	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		A	123600382	C	A	123600382	3	1	124	1	0	0	0	0	1	0	0	0	17760	623	22	5	1412	5	ZNF202	11	123600382	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	3431409	123600382	11406134	30	8532											
ACAD8	27034	broad.mit.edu	37	chr11	134128470	134128470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggcacaaattttgcccaCcgctctgtaccatggagaag	12	8	10	11	1	1	2	0	0	1	2	1	3	1	2	3	2	2	3	3	2	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:134128470C>T	ENST00000281182.4	+	4	548	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Missense_Mutation_p.P71S|ACAD8_ENST00000543332.1_Missense_Mutation_p.P50S|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	148					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	ATTTTGCCCACCGCTCTGTAC	0.468																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.3																			0		p.P148P(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(442-444)Ccg>Tcg		Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.							137	96	110					11																	134128470		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134128470C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.442C>T	11.37:g.134128470C>T	ENSP00000281182:p.Pro148Ser					ACAD8_uc009zdc.3_Missense_Mutation_p.P50S|ACAD8_uc010sco.1_Missense_Mutation_p.P50S|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P71S|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.P110S|ACAD8_uc009zde.1_Missense_Mutation_p.P21S	p.P148S	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	3	503	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	148					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.442C>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419585	0.25552	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99724	-6.54;-6.54;-5.34	5.29	3.37	0.38596	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.307091	0.35235	N	0.003355	D	0.97334	0.9128	N	0.13168	0.305	0.09310	N	1	B;B;B;B;B	0.12013	0.001;0.002;0.005;0.0;0.0	B;B;B;B;B	0.11329	0.003;0.006;0.004;0.002;0.003	D	0.94745	0.7922	10	0.27785	T	0.31	.	4.8313	0.13441	0.0:0.5774:0.1754:0.2471	.	89;71;50;50;148	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	S	148;71;50;110	ENSP00000281182:P148S;ENSP00000443763:P71S;ENSP00000438302:P50S	ENSP00000281182:P148S	P	+	1	0	ACAD8	133633680	0.269000	0.24143	0.885000	0.34714	0.994000	0.84299	1.864000	0.39469	1.183000	0.42943	0.655000	0.94253	CCG		0.468	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		T	134128470	C	T	134128470	3	4	124	1	0	0	0	0	1	0	0	0	110	507	18	3	456	3	ACAD8	11	134128470	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	10528088	134128470	878046	31	8533											
TMEM117	84216	broad.mit.edu	37	chr12	44782427	44782427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgatcaagacccaaCgacttctaaaagtacaccta	17	7	6	11	1	2	3	1	1	1	2	2	4	2	3	2	0	3	2	2	0	7	4	rs150984405		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:44782427C>T	ENST00000266534.3	+	8	1644	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.T402M|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	506						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGACCCAACGACTTCTAAA	0.398																																						uc001rod.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1516-1518)aCg>aTg		Homo sapiens transmembrane protein 117 (TMEM117), mRNA.		C	MET/THR	0,4406		0,0,2203	139	132	135		1517	-1.3	0	12	dbSNP_134	135	1,8597	1.2+/-3.3	0,1,4298	no	missense	TMEM117	NM_032256.1	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	506/515	44782427	1,13003	2203	4299	6502	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782427C>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1517C>T	12.37:g.44782427C>T	ENSP00000266534:p.Thr506Met					TMEM117_uc001roe.3_Missense_Mutation_p.T402M|TMEM117_uc009zkc.3_3'UTR	p.T506M	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	7	1583	+	Lung SC(27;0.192)		506						Missense_Mutation	SNP	ENST00000266534.3	37	c.1517C>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.478902	0.01035	0.0	1.16E-4	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.44881	0.91	5.73	-1.3	0.09259	.	1.432960	0.04131	N	0.317952	T	0.26048	0.0635	N	0.08118	0	0.09310	N	1	B;B	0.27286	0.001;0.174	B;B	0.23018	0.001;0.043	T	0.27673	-1.0067	10	0.38643	T	0.18	-0.0952	13.2027	0.59778	0.0:0.4647:0.0:0.5353	.	402;506	F5H3Q2;Q9H0C3	.;TM117_HUMAN	M	506;402;254	ENSP00000266534:T506M	ENSP00000266534:T506M	T	+	2	0	TMEM117	43068694	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.224000	0.09164	-0.152000	0.11156	-0.769000	0.03391	ACG		0.398	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		T	44782427	C	T	44782427	3	4	124	1	0	0	0	0	1	0	0	0	16028	536	19	1	1543	1	TMEM117	12	44782427	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		44782427	89069468	32	8534											
NR2C1	7181	broad.mit.edu	37	chr12	95425195	95425195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacattcatcacttgccaGcactgggcaagaccaagagt	12	8	9	12	0	2	2	2	0	0	2	2	2	2	2	2	1	3	3	2	1	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:95425195G>A	ENST00000333003.5	-	11	1653	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	NR2C1_ENST00000393101.3_Silent_p.C441C|NR2C1_ENST00000330677.7_Silent_p.C441C|NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	441					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCACTTGCCAGCACTGGGCAA	0.368																																						uc001tdm.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1321-1323)tgC>tgT		Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.							124	127	126					12																	95425195		2203	4300	6503	SO:0001819	synonymous_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95425195G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1323C>T	12.37:g.95425195G>A						NR2C1_uc010suu.1_Intron|NR2C1_uc001tdn.4_Silent_p.C441C|NR2C1_uc001tdo.4_Silent_p.C441C	p.C441C	NM_003297	NP_003288	P13056	NR2C1_HUMAN			10	1579	-			441					A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	c.1323C>T	CCDS9051.1																																																																																				0.368	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		A	95425195	G	A	95425195	2	1	124	1	0	0	0	0	0	0	0	1	10622	963	34	3		3	NR2C1	12	95425195	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	50642768	95425195	38426700	33	8535											
VPS29	51699	broad.mit.edu	37	chr12	110929907	110929907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctggatatccatcaacAcaaatgatggaataatgttt	16	11	7	7	0	1	1	1	1	0	0	2	3	2	3	2	2	2	1	2	2	6	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:110929907A>G	ENST00000549578.1	-	4	517	c.452T>C	c.(451-453)gTg>gCg	p.V151A	VPS29_ENST00000549970.1_Missense_Mutation_p.V56A|VPS29_ENST00000360579.7_Missense_Mutation_p.V155A|VPS29_ENST00000447578.2_Missense_Mutation_p.V56A|VPS29_ENST00000546588.1_Missense_Mutation_p.V183A|VPS29_ENST00000552130.2_Missense_Mutation_p.V56A	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	151					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCCATCAACACAAATGATGG	0.328																																						uc001tqy.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(451-453)gTg>gCg		Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.							120	103	109					12																	110929907		1852	4101	5953	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110929907A>G	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"vacuolar protein sorting 29 (yeast homolog)", "vacuolar protein sorting 29 (yeast)"			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.452T>C	12.37:g.110929907A>G	ENSP00000447058:p.Val151Ala					VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.V155A|VPS29_uc001tqz.3_Non-coding_Transcript	p.V151A	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN			3	512	-			151					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.452T>C	CCDS41832.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278467	0.59758	.	.	ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000552130;ENST00000447578;ENST00000546588;ENST00000549970	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	6.07	6.07	0.98685	Calcineurin-like phosphoesterase superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.023;0.033	B;B	0.28709	0.093;0.081	T	0.14896	-1.0456	10	0.29301	T	0.29	-8.2729	16.6288	0.85011	1.0:0.0:0.0:0.0	.	151;155	Q9UBQ0;Q9UBQ0-2	VPS29_HUMAN;.	A	151;155;56;56;183;56	ENSP00000447058:V151A;ENSP00000449954:V56A;ENSP00000400048:V56A;ENSP00000449044:V183A;ENSP00000447634:V56A	ENSP00000380795:V155A	V	-	2	0	VPS29	109414290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.326000	0.78906	0.533000	0.62120	GTG		0.328	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			G	110929907	A	G	110929907	3	3	124	1	0	0	0	0	1	0	0	0	17197	159	6	4	100	4	VPS29	12	110929907	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08	15504712	110929907	22921988	34	8536											
KSR2	283455	broad.mit.edu	37	chr12	118198984	118198984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcggcgtgcccggcGgggtcacggtggtgacgatg	4	7	20	10	6	2	1	2	1	0	0	2	2	2	1	1	7	1	0	1	7	0	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:118198984G>A	ENST00000339824.5	-	4	1545	c.818C>T	c.(817-819)cCg>cTg	p.P273L	KSR2_ENST00000425217.1_Missense_Mutation_p.P244L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	273	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGCCCGGCGGGGTCACGGT	0.701																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(730-732)cCg>cTg		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							74	90	85					12																	118198984		1863	4088	5951	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198984G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.818C>T	12.37:g.118198984G>A	ENSP00000339952:p.Pro273Leu						p.P244L	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			3	786	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		273			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.731C>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.600357	0.87055	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.59906	0.23;0.23	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78259	-0.2273	10	0.72032	D	0.01	.	17.8888	0.88865	0.0:0.0:1.0:0.0	.	273	Q6VAB6	KSR2_HUMAN	L	244;273	ENSP00000389715:P244L;ENSP00000339952:P273L	ENSP00000339952:P273L	P	-	2	0	KSR2	116683367	1.000000	0.71417	0.917000	0.36280	0.753000	0.42808	9.388000	0.97237	2.299000	0.77371	0.484000	0.47621	CCG		0.701	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		A	118198984	G	A	118198984	3	1	124	1	0	0	0	0	1	0	0	0	8582	1116	39	2	2102	2	KSR2	12	118198984	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	7269077	118198984	15652911	35	8537											
ARHGAP5	394	broad.mit.edu	37	chr14	32561686	32561686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttattttagggaaggAtggccttgcccaagaactag	10	13	10	8	0	0	1	0	0	0	1	0	3	0	3	3	3	2	0	3	3	6	7			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr14:32561686A>T	ENST00000345122.3	+	2	2126	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D604V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D604V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D604V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	604					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTAGGGAAGGATGGCCTTGCC	0.373																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1810-1812)gAt>gTt		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							94	91	92					14																	32561686		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561686A>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1811A>T	14.37:g.32561686A>T	ENSP00000371897:p.Asp604Val					ARHGAP5_uc001wrm.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.D604V	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	2050	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		604					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1811A>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372488	0.42003	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.72	5.72	0.89469	.	0.043232	0.85682	D	0.000000	T	0.32941	0.0846	L	0.49126	1.545	0.80722	D	1	D;D	0.65815	0.995;0.992	D;D	0.73380	0.98;0.955	T	0.01795	-1.1272	10	0.87932	D	0	.	16.3035	0.82836	1.0:0.0:0.0:0.0	.	604;604	Q13017-2;Q13017	.;RHG05_HUMAN	V	604	ENSP00000452222:D604V;ENSP00000441692:D604V;ENSP00000371897:D604V;ENSP00000393307:D604V	ENSP00000371897:D604V	D	+	2	0	ARHGAP5	31631437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	2.299000	0.77371	0.528000	0.53228	GAT		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32561686	A	T	32561686	3	4	124	1	0	0	0	0	1	0	0	0	886	333	12	5	1813	5	ARHGAP5	14	32561686	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08		32561686	74787854	36	8538											
ITGAX	3687	broad.mit.edu	37	chr16	31384692	31384692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcaggactgtcctaccGctacgtggcagagggccagg	7	5	14	15	3	0	1	0	0	0	1	1	2	1	2	5	4	2	3	5	4	2	2	rs200320669		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:31384692G>A	ENST00000268296.4	+	20	2610	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R830H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	830					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTCCTACCGCTACGTGGCA	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		16396	0		0	False		,,,				2504	0					uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2488-2490)cGc>cAc		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							95	65	75					16																	31384692		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31384692G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2489G>A	16.37:g.31384692G>A	ENSP00000268296:p.Arg830His					ITGAX_uc002ebu.1_Missense_Mutation_p.R830H	p.R830H	NM_000887	NP_000878	P20702	ITAX_HUMAN			19	2556	+			830					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2489G>A	CCDS10711.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.30	2.197261	0.38806	.	.	ENSG00000140678	ENST00000268296	T	0.48522	0.81	4.93	3.95	0.45737	Integrin alpha-2 (1);	.	.	.	.	T	0.66366	0.2782	M	0.73962	2.25	0.33595	D	0.601634	D	0.89917	1.0	D	0.73708	0.981	T	0.77273	-0.2649	9	0.87932	D	0	.	12.0217	0.53348	0.0:0.0:0.8265:0.1735	.	830	P20702	ITAX_HUMAN	H	830	ENSP00000268296:R830H	ENSP00000268296:R830H	R	+	2	0	ITGAX	31292193	0.960000	0.32886	0.288000	0.24862	0.036000	0.12997	3.625000	0.54238	1.403000	0.46800	0.591000	0.81541	CGC		0.622	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31384692	G	A	31384692	3	1	124	1	0	0	0	0	1	0	0	0	7889	1087	38	1	2567	1	ITGAX	16	31384692	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		31384692	58970061	37	8539											
KRT23	25984	broad.mit.edu	37	chr17	39092707	39092707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggggtgggcagctcCgcgtggtgaaggacagggag	7	5	20	9	2	0	1	0	1	0	0	2	3	2	3	2	6	1	2	2	6	1	0	rs148371500		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39092707C>T	ENST00000209718.3	-	2	573	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	50	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGCAGCTCCGCGTGGTGAA	0.692																																						uc002hvm.1																			0		p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(148-150)cGg>cAg		Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.							47	52	50					17																	39092707		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092707C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.149G>A	17.37:g.39092707C>T	ENSP00000209718:p.Arg50Gln					KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	p.R50Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			1	738	-		Breast(137;0.000301)|Ovarian(249;0.15)	50			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.149G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847538	0.17034	.	.	ENSG00000108244	ENST00000209718	D	0.82433	-1.61	5.73	3.66	0.41972	.	0.115763	0.39210	N	0.001440	T	0.63189	0.2490	N	0.08118	0	0.26814	N	0.968947	P	0.41188	0.741	B	0.29663	0.105	T	0.57602	-0.7783	10	0.29301	T	0.29	.	15.9221	0.79583	0.0:0.3987:0.6013:0.0	.	50	Q9C075	K1C23_HUMAN	Q	50	ENSP00000209718:R50Q	ENSP00000209718:R50Q	R	-	2	0	KRT23	36346233	0.980000	0.34600	0.105000	0.21289	0.102000	0.19082	2.047000	0.41269	1.422000	0.47177	-0.357000	0.07601	CGG		0.692	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			T	39092707	C	T	39092707	3	4	124	1	0	0	0	0	1	0	0	0	8460	652	23	2	1151	2	KRT23	17	39092707	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		39092707	42102503	38	8540											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262036	39262036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccagctgctgtgtgtcCagctgctgcaagccccagtg	5	8	12	16	1	0	0	0	0	0	0	1	0	1	0	5	0	6	5	5	0	1	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39262036C>T	ENST00000391415.1	+	1	453	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	132	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgtgtgtccagctgctgca	0.662																																						uc010wfp.2																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(394-396)tcC>tcT		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							8	14	12					17																	39262036		679	1580	2259	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262036C>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.396C>T	17.37:g.39262036C>T							p.S132S	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	396	+			132			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.396C>T	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		T	39262036	C	T	39262036	2	4	124	1	0	0	0	0	0	0	0	1	8557	581	21	3		3	KRTAP4-9	17	39262036	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	169329	39262036	41933174	39	8541											
DGKE	8526	broad.mit.edu	37	chr17	54940030	54940030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggagccttgggcccaaGggccctgcactgtcaccata	8	7	13	13	0	1	0	1	0	0	0	1	1	1	1	4	4	2	1	4	4	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:54940030G>T	ENST00000284061.3	+	12	1762	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	528					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGCCCAAGGGCCCTGCAC	0.448																																						uc002iur.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1582-1584)Ggg>Tgg		Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.							46	40	42					17																	54940030		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54940030G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1582G>T	17.37:g.54940030G>T	ENSP00000284061:p.Gly528Trp					DGKE_uc002ius.1_3'UTR	p.G528W	NM_003647	NP_003638	P52429	DGKE_HUMAN			11	1762	+	Breast(9;3.59e-07)		528					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1582G>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861208	0.91433	.	.	ENSG00000153933	ENST00000284061	T	0.45668	0.89	5.8	5.8	0.92144	.	0.044405	0.85682	D	0.000000	T	0.64091	0.2567	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.64241	-0.6454	10	0.72032	D	0.01	.	20.1103	0.97910	0.0:0.0:1.0:0.0	.	528	P52429	DGKE_HUMAN	W	528	ENSP00000284061:G528W	ENSP00000284061:G528W	G	+	1	0	DGKE	52295029	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.325000	0.96381	2.746000	0.94184	0.644000	0.83932	GGG		0.448	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		T	54940030	G	T	54940030	3	4	124	1	0	0	0	0	1	0	0	0	4468	1000	35	5	1624	5	DGKE	17	54940030	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	15677994	54940030	26255180	40	8542											
CASKIN2	57513	broad.mit.edu	37	chr17	73498864	73498864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggccctggggccgggctaGagggtgagccctgggggtac	4	6	21	10	1	0	2	0	1	0	1	0	2	0	2	3	7	2	2	3	7	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:73498864G>C	ENST00000321617.3	-	18	2877	c.2291C>G	c.(2290-2292)tCt>tGt	p.S764C	CASKIN2_ENST00000433559.2_Missense_Mutation_p.S682C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	764	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGGGCTAGAGGGTGAGCC	0.667																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2290-2292)tCt>tGt		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.							11	12	11					17																	73498864		1947	4007	5954	SO:0001583	missense	57513					cytoplasm		g.chr17:73498864G>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2291C>G	17.37:g.73498864G>C	ENSP00000325355:p.Ser764Cys					CASKIN2_uc010wsc.2_Missense_Mutation_p.S682C	p.S764C	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2841	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		764			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2291C>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118880	0.56505	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69926	-0.44;-0.26	4.87	4.87	0.63330	.	0.149537	0.31495	N	0.007549	T	0.62196	0.2408	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	P	0.50231	0.635	T	0.67277	-0.5711	10	0.62326	D	0.03	.	15.3057	0.73990	0.0:0.0:1.0:0.0	.	764	Q8WXE0	CSKI2_HUMAN	C	764;682	ENSP00000325355:S764C;ENSP00000406963:S682C	ENSP00000325355:S764C	S	-	2	0	CASKIN2	71010459	0.975000	0.34042	0.998000	0.56505	0.779000	0.44077	4.940000	0.63533	2.537000	0.85549	0.491000	0.48974	TCT		0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		C	73498864	G	C	73498864	3	2	124	1	0	0	0	0	1	0	0	0	2667	942	33	5	1329	5	CASKIN2	17	73498864	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	18558834	73498864	7696346	41	8543											
EVPL	2125	broad.mit.edu	37	chr17	74017966	74017966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtactcccgccgcacGcccgcagggtcggccatgag	6	5	12	18	6	0	1	0	1	0	0	3	1	1	1	5	2	1	3	5	2	1	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:74017966G>A	ENST00000301607.3	-	7	1042	c.789C>T	c.(787-789)ggC>ggT	p.G263G	EVPL_ENST00000586740.1_Silent_p.G263G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	263	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCGCCGCACGCCCGCAGGGT	0.756																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(787-789)ggC>ggT		Homo sapiens envoplakin (EVPL), mRNA.							4	6	5					17																	74017966		1943	3931	5874	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017966G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.789C>T	17.37:g.74017966G>A						EVPL_uc002jqi.2_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	p.G263G	NM_001988	NP_001979	Q92817	EVPL_HUMAN			6	1017	-			263			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.789C>T	CCDS11737.1																																																																																				0.756	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74017966	G	A	74017966	2	1	124	1	0	0	0	0	0	0	0	1	5292	1074	38	1		1	EVPL	17	74017966	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	519102	74017966	7177244	42	8544											
SLC25A10	1468	broad.mit.edu	37	chr17	79682531	79682531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctactccctgactcggttCgccatctacgagactgtgcg	7	10	9	15	4	1	2	0	1	1	1	4	3	2	2	3	1	3	1	3	1	2	3	rs146181618	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:79682531C>T	ENST00000350690.5	+	3	323	c.237C>T	c.(235-237)ttC>ttT	p.F79F	SLC25A10_ENST00000331531.5_Silent_p.F79F|SLC25A10_ENST00000541223.1_Silent_p.F234F|SLC25A10_ENST00000571730.1_Silent_p.F234F|SLC25A10_ENST00000545862.1_Silent_p.F36F	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	79					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGACTCGGTTCGCCATCTACG	0.687													C|||	15	0.00299521	0.0113	0	5008	,	,		14913	0		0	False		,,,				2504	0					uc010wut.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(700-702)ttC>ttT		Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)	C		43,4363	46.0+/-80.4	0,43,2160	136	142	140		237	-5.1	0.7	17	dbSNP_134	140	0,8598		0,0,4299	no	coding-synonymous	SLC25A10	NM_012140.3		0,43,6459	TT,TC,CC		0.0,0.9759,0.3307		79/288	79682531	43,12961	2203	4299	6502	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682531C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.237C>T	17.37:g.79682531C>T						SLC25A10_uc002kbi.3_Silent_p.F79F|SLC25A10_uc010dif.3_Silent_p.F79F|SLC25A10_uc010wuu.2_Silent_p.F33F	p.F234F	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	834	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		79					Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.702C>T	CCDS11786.1																																																																																				0.687	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			T	79682531	C	T	79682531	2	4	124	1	0	0	0	0	0	0	0	1	14472	883	31	2		2	SLC25A10	17	79682531	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	5664565	79682531	1512679	43	8545											
ADNP2	22850	broad.mit.edu	37	chr18	77896288	77896288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcatggggaggagcagcctCccatcctaaatgccgatgca	10	6	13	12	1	0	0	0	0	0	0	2	3	2	2	4	4	4	3	4	4	2	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr18:77896288C>A	ENST00000262198.4	+	4	3447	c.2992C>A	c.(2992-2994)Ccc>Acc	p.P998T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	998					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGAGCAGCCTCCCATCCTAAA	0.517																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2992-2994)Ccc>Acc		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							51	57	55					18																	77896288		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896288C>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2992C>A	18.37:g.77896288C>A	ENSP00000262198:p.Pro998Thr						p.P998T	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	3447	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	998					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.2992C>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.366453	0.01235	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.03	-1.47	0.08772	.	0.727500	0.12774	N	0.440276	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.28681	-1.0036	8	.	.	.	-0.039	7.5036	0.27532	0.1196:0.3489:0.4647:0.0668	.	998	Q6IQ32	ADNP2_HUMAN	T	998	.	.	P	+	1	0	ADNP2	75997279	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.266000	0.18534	-0.523000	0.06409	-0.181000	0.13052	CCC		0.517	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		A	77896288	C	A	77896288	3	1	124	1	0	0	0	0	1	0	0	0	324	855	30	5	3002	5	ADNP2	18	77896288	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		77896288	180960	44	8546											
ZNF358	140467	broad.mit.edu	37	chr19	7585663	7585663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtgcccagcccagaccTtgatcctgtgcccagcccag	6	8	9	18	0	0	2	0	1	0	1	1	2	1	2	7	0	4	0	7	0	0	2	rs558919190|rs28655671	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:7585663T>C	ENST00000597229.1	+	2	1705	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.L512P|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	512					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCAGACCTTGATCCTGTG	0.647													T|||	1	0.000199681	0	0	5008	,	,		13759	0.001		0	False		,,,				2504	0					uc002mgn.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1534-1536)cTt>cCt		Homo sapiens zinc finger protein 358 (ZNF358), mRNA.							99	78	85					19																	7585663		2203	4300	6503	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585663T>C	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1535T>C	19.37:g.7585663T>C	ENSP00000472305:p.Leu512Pro					ZNF358_uc021unu.1_Missense_Mutation_p.L512P|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	p.L512P	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			1	1705	+			512					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.1535T>C	CCDS32890.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	1.092	-0.663780	0.03428	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.18810	2.19	2.63	-0.768	0.11013	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.23156	N	0.998205	B	0.09022	0.002	B	0.01281	0.0	T	0.30650	-0.9971	9	0.62326	D	0.03	.	1.2101	0.01903	0.319:0.3758:0.1212:0.184	rs28655671	512	Q9NW07	ZN358_HUMAN	P	512	ENSP00000377873:L512P	ENSP00000354703:L512P	L	+	2	0	ZNF358	7491663	0.000000	0.05858	0.022000	0.16811	0.002000	0.02628	-1.113000	0.03296	-0.256000	0.09473	-1.819000	0.00600	CTT		0.647	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			C	7585663	T	C	7585663	3	2	124	1	0	0	0	0	1	0	0	0	17864	1609	56	4	1537	4	ZNF358	19	7585663	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08		7585663	51543320	45	8547											
MEGF8	1954	broad.mit.edu	37	chr19	42855690	42855690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcccggtacccacacgggGgctgtcgaggctgggacgac	6	5	17	13	4	0	0	0	0	0	0	1	3	0	1	2	6	1	3	2	6	1	1	rs539307956		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:42855690G>A	ENST00000251268.6	+	17	2965	c.2965G>A	c.(2965-2967)Ggc>Agc	p.G989S	MEGF8_ENST00000334370.4_Missense_Mutation_p.G922S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	989					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCACACGGGGGCTGTCGAGG	0.662													G|||	1	0.000199681	0	0.0014	5008	,	,		17904	0		0	False		,,,				2504	0					uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2764-2766)Ggc>Agc		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							42	33	36					19																	42855690		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42855690G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2965G>A	19.37:g.42855690G>A	ENSP00000251268:p.Gly989Ser					MEGF8_uc002otm.4_Missense_Mutation_p.G530S	p.G922S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			15	3399	+		Prostate(69;0.00682)	989			PSI 3.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2764G>A		.	.	.	.	.	.	.	.	.	.	G	13.14	2.147892	0.37923	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.19669	2.13;2.13	5.26	5.26	0.73747	.	0.072631	0.56097	D	0.000026	T	0.15869	0.0382	L	0.29908	0.895	0.80722	D	1	B;P	0.37500	0.085;0.597	B;B	0.37047	0.015;0.24	T	0.03662	-1.1015	10	0.08381	T	0.77	-24.0416	16.3849	0.83501	0.0:0.0:1.0:0.0	.	989;922	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	922;989	ENSP00000334219:G922S;ENSP00000251268:G989S	ENSP00000251268:G989S	G	+	1	0	MEGF8	47547530	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	5.497000	0.66924	2.465000	0.83290	0.655000	0.94253	GGC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42855690	G	A	42855690	3	1	124	1	0	0	0	0	1	0	0	0	9463	1232	43	3	2826	3	MEGF8	19	42855690	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	35270027	42855690	16273293	46	8548											
DYNLRB1	83658	broad.mit.edu	37	chr20	33114101	33114101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagacactgaagcgacTgcagagccagaagggagtgc	13	3	17	8	1	0	4	0	1	0	3	0	8	0	6	1	3	4	1	1	3	2	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr20:33114101T>C	ENST00000357156.2	+	2	82	c.32T>C	c.(31-33)cTg>cCg	p.L11P	DYNLRB1_ENST00000374846.3_Missense_Mutation_p.L63P|DYNLRB1_ENST00000480759.1_3'UTR|Y_RNA_ENST00000383855.1_RNA|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.L11P|DYNLRB1_ENST00000300469.9_Missense_Mutation_p.L11P	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	11					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CTGAAGCGACTGCAGAGCCAG	0.587																																						uc002xal.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(31-33)cTg>cCg		Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.							91	81	84					20																	33114101		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33114101T>C	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.32T>C	20.37:g.33114101T>C	ENSP00000349679:p.Leu11Pro					DYNLRB1_uc010zuk.2_Missense_Mutation_p.L11P|DYNLRB1_uc002xao.3_Non-coding_Transcript	p.L11P	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN			1	92	+			11					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.32T>C	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867013	0.91511	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000300469;ENST00000374846	T;T;T;T	0.32272	1.46;1.46;1.64;1.46	5.02	5.02	0.67125	.	0.052071	0.85682	D	0.000000	T	0.56702	0.2003	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.907	D;D	0.75484	0.986;0.925	T	0.62469	-0.6848	9	0.87932	D	0	-10.3373	14.8675	0.70427	0.0:0.0:0.0:1.0	.	11;11	B4DFR2;Q9NP97	.;DLRB1_HUMAN	P	11;11;11;63	ENSP00000349679:L11P;ENSP00000409090:L11P;ENSP00000300469:L11P;ENSP00000363979:L63P	ENSP00000300469:L11P	L	+	2	0	DYNLRB1	32577762	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.229000	0.72834	0.533000	0.62120	CTG		0.587	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		C	33114101	T	C	33114101	3	2	124	1	0	0	0	0	1	0	0	0	4850	1580	55	4	38	4	DYNLRB1	20	33114101	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08		33114101	29911419	47	8549											
AIRE	326	broad.mit.edu	37	chr21	45706905	45706905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggaagcccccggccGtccccaaggctttggtaccg	7	5	15	14	3	0	0	0	0	0	0	1	2	1	2	6	6	2	2	6	6	3	2	rs370599883		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr21:45706905G>A	ENST00000291582.5	+	3	479	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	118					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCCCCGGCCGTCCCCAAGGC	0.672									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(352-354)Gtc>Atc		Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.		G	ILE/VAL	1,4373		0,1,2186	24	31	29		352	-2.7	0	21		29	0,8550		0,0,4275	no	missense	AIRE	NM_000383.2	29	0,1,6461	AA,AG,GG		0.0,0.0229,0.0077	benign	118/546	45706905	1,12923	2187	4275	6462	SO:0001583	missense	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45706905G>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.352G>A	21.37:g.45706905G>A	ENSP00000291582:p.Val118Ile						p.V118I	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	2	479	+			118					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.352G>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697661	0.03279	2.29E-4	0.0	ENSG00000160224	ENST00000291582	D	0.94576	-3.46	4.13	-2.67	0.06059	.	1.410260	0.04721	N	0.419434	T	0.81475	0.4830	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.73225	-0.4050	10	0.21540	T	0.41	-7.5019	7.4999	0.27511	0.5079:0.0:0.4921:0.0	.	118	O43918	AIRE_HUMAN	I	118	ENSP00000291582:V118I	ENSP00000291582:V118I	V	+	1	0	AIRE	44531333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.294000	0.08309	-0.096000	0.12329	-0.382000	0.06688	GTC		0.672	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			A	45706905	G	A	45706905	3	1	124	1	0	0	0	0	1	0	0	0	437	1145	40	1	362	1	AIRE	21	45706905	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		45706905	2422990	48	8550											
ARSD	414	broad.mit.edu	37	chrX	2836003	2836003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaacaggcagcccacGccggccatgccggtgactgc	11	4	12	14	3	0	2	0	2	0	0	0	2	0	2	4	3	4	1	4	3	2	0	rs113556864		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:2836003G>A	ENST00000381154.1	-	5	780	c.705C>T	c.(703-705)ggC>ggT	p.G235G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	235					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCAGCCCACGCCGGCCATGC	0.592																																						uc004cqy.3																			0				large_intestine(3)|lung(3)	6						c.(703-705)ggC>ggT		Homo sapiens arylsulfatase D (ARSD), mRNA.							24	27	26					X																	2836003		2202	4300	6502	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2836003G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.705C>T	X.37:g.2836003G>A							p.G235G	NM_001669	NP_001660	P51689	ARSD_HUMAN			4	805	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	235					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.705C>T	CCDS35196.1																																																																																				0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2836003	G	A	2836003	2	1	124	1	0	0	0	0	0	0	0	1	989	1074	38	1		1	ARSD	23	2836003	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08		2836003	152434557	49	8551											
CXorf58	254158	broad.mit.edu	37	chrX	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatctcaaaccgtctaCgaaatgaaatgaagtttctg	14	11	9	7	2	3	3	1	3	3	0	4	5	3	3	1	0	2	1	1	0	5	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:23953460C>T	ENST00000379211.3	+	7	1252	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378																																						uc004daz.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(703-705)Cga>Tga		Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.							86	77	80					X																	23953460		2203	4300	6503	SO:0001587	stop_gained	254158							g.chrX:23953460C>T	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.703C>T	X.37:g.23953460C>T	ENSP00000368511:p.Arg235*					CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	p.R235*	NM_152761	NP_689974	Q96LI9	CX058_HUMAN			6	1047	+			235						Nonsense_Mutation	SNP	ENST00000379211.3	37	c.703C>T	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	c	39	7.584849	0.98374	.	.	ENSG00000165182	ENST00000379211	.	.	.	6.07	3.28	0.37604	.	0.977993	0.08374	N	0.955636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0082	7.8706	0.29563	0.5601:0.361:0.0:0.0789	.	.	.	.	X	235	.	ENSP00000368511:R235X	R	+	1	2	CXorf58	23863381	0.924000	0.31332	0.054000	0.19295	0.620000	0.37586	0.584000	0.23864	0.249000	0.21456	0.540000	0.68198	CGA		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		T	23953460	C	T	23953460	4	4	124	1	0	0	0	0	0	1	0	0	4114	528	19	1	725	1	CXorf58	23	23953460	Nonsense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	21117457	23953460	131317100	50	8552											
ZNF182	7569	broad.mit.edu	37	chrX	47842386	47842386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggatttttccttctgccggGcattcttctacctccaactt	5	16	7	13	1	3	0	0	0	3	0	5	1	5	1	4	2	3	1	4	2	2	7	rs141215624	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:47842386G>A	ENST00000396965.1	-	6	602	c.252C>T	c.(250-252)tgC>tgT	p.C84C	ZNF182_ENST00000376943.3_Silent_p.C65C|ZNF182_ENST00000305127.6_Silent_p.C84C	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTTCTGCCGGGCATTCTTCTA	0.478																																						uc004dir.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(250-252)tgC>tgT		Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.							119	94	103					X																	47842386		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47842386G>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.252C>T	X.37:g.47842386G>A						ZNF182_uc004dis.3_Silent_p.C65C|ZNF182_uc004dit.3_Silent_p.C84C	p.C84C	NM_006962	NP_008893	P17025	ZN182_HUMAN			5	598	-			84			KRAB.		A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.252C>T	CCDS35236.1																																																																																				0.478	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		A	47842386	G	A	47842386	2	1	124	1	0	0	0	0	0	0	0	1	17747	1195	42	3		3	ZNF182	23	47842386	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	23888926	47842386	107428174	51	8553											
CAMTA1	23261	broad.mit.edu	37	chr1	7811328	7811329	+	Frame_Shift_Ins	INS	-	-	A																															attccgaagttactatgaacINSaaaaaaaattccagcagagc																										TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:7811328_7811329insA	ENST00000303635.7	+	20	4966_4967	c.4759_4760insA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000476864.1_Frame_Shift_Ins_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Ins_p.Q1573fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTACTATGAACAAAAAAAATTC	0.47			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Deletion - Frameshift(1)	p.K1589fs*33(1)	lung(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4759-4761)caafs		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811328_7811329insA	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4767dupA	1.37:g.7811336_7811336dupA	ENSP00000306522:p.Gln1587fs					CAMTA1_uc001aok.4_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.3_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.3_Frame_Shift_Ins_p.Q177fs	p.Q1587fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	19	4966_4967	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1587			IQ 2.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Ins	INS	ENST00000303635.7	37	c.4759_4760insA	CCDS30576.1																																																																																				0.47	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7811329	-	A	7811328	7	5	125	1	0	1	1	0	0	0	0	0	2613	479	17	0	4837	0	CAMTA1	1	7811328	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08		7811328	241439293	1	8554											
SPRR1B	6699	broad.mit.edu	37	chr1	153004854	153004854	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagaagcagccttgcacCccaccccctcagcttcagca	10	5	7	19	0	2	1	2	0	0	1	2	1	2	1	5	0	6	5	5	0	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:153004854C>G	ENST00000307098.4	+	2	98	c.33C>G	c.(31-33)acC>acG	p.T11T	SPRR1B_ENST00000392661.3_Silent_p.T11T	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	11	2 X 12 AA approximate repeats.		T -> I (in dbSNP:rs3795382). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3133554, ECO:0000269|PubMed:8388378, ECO:0000269|Ref.4}.		epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTTGCACCCCACCCCCTC	0.557																																						uc001fba.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9						c.(31-33)acC>acG		Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.							142	138	139					1																	153004854		2203	4300	6503	SO:0001819	synonymous_variant	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004854C>G	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"cornifin"	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.33C>G	1.37:g.153004854C>G						SPRR1B_uc021ozp.1_Silent_p.T11T	p.T11T	NM_003125	NP_003116	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	97	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		11		T -> I (in dbSNP:rs3795382).	2 X 12 AA approximate repeats.		B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	37	c.33C>G	CCDS30863.1																																																																																				0.557	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		G	153004854	C	G	153004854	2	3	125	1	0	0	0	0	0	0	0	1	15095	610	22	5		5	SPRR1B	1	153004854	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	145193526	153004854	96245767	2	8555											
NUP210L	91181	broad.mit.edu	37	chr1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatgatttccaattcGgaatgtgagaacctttaagg	12	12	10	7	1	0	2	0	2	0	1	2	5	1	4	3	3	1	0	3	3	4	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:154062058G>A	ENST00000368559.3	-	16	2271	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2200-2202)Cga>Tga		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							74	75	75					1																	154062058		1891	4124	6015	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154062058G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2200C>T	1.37:g.154062058G>A	ENSP00000357547:p.Arg734*					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.2200C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	39	7.522494	0.98335	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.57	4.57	0.56435	.	0.150747	0.30752	N	0.008943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-27.8864	15.3044	0.73982	0.0:0.0:1.0:0.0	.	.	.	.	X	734	.	ENSP00000271854:R734X	R	-	1	2	NUP210L	152328682	0.996000	0.38824	0.954000	0.39281	0.941000	0.58515	4.027000	0.57239	2.363000	0.80096	0.467000	0.42956	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154062058	G	A	154062058	4	1	125	1	0	0	0	0	0	1	0	0	10761	1124	39	2	3566	2	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	1057204	154062058	95188563	3	8556											
ATP1A4	480	broad.mit.edu	37	chr1	160136448	160136448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaccctcacccagaaccGcatgaccgtcgcccacatgt	9	5	9	18	3	1	2	1	1	0	1	2	2	1	2	5	1	1	2	5	1	1	0	rs139315814		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:160136448G>A	ENST00000368081.4	+	8	1649	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	393					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCAGAACCGCATGACCGTC	0.577																																						uc001fve.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1177-1179)cGc>cAc		Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	139	109	119		1178	4.3	1	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1A4	NM_144699.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	393/1030	160136448	1,13005	2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160136448G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1178G>A	1.37:g.160136448G>A	ENSP00000357060:p.Arg393His					ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	p.R393H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1657	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		393					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1178G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007747	0.93287	0.0	1.16E-4	ENSG00000132681	ENST00000368081	D	0.96300	-3.97	4.35	4.35	0.52113	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97873	1.0287	10	0.87932	D	0	.	14.7749	0.69724	0.0:0.0:1.0:0.0	.	393	Q13733	AT1A4_HUMAN	H	393	ENSP00000357060:R393H	ENSP00000357060:R393H	R	+	2	0	ATP1A4	158403072	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.563000	0.98148	2.427000	0.82271	0.650000	0.86243	CGC		0.577	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160136448	G	A	160136448	3	1	125	1	0	0	0	0	1	0	0	0	1131	1087	38	1	1208	1	ATP1A4	1	160136448	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	6074390	160136448	89114173	4	8557											
SELP	6403	broad.mit.edu	37	chr1	169562857	169562857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttacctttttgtctgaaaCgctttcttagcaaagccagg	10	15	7	9	1	2	1	0	1	2	0	2	1	2	1	2	1	4	2	2	1	4	6	rs201454112	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:169562857C>T	ENST00000263686.6	-	14	2430	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	SELP_ENST00000367793.2_Missense_Mutation_p.R736H|SELP_ENST00000367786.2_Missense_Mutation_p.R736H|SELP_ENST00000367794.2_Missense_Mutation_p.R736H|SELP_ENST00000367792.2_Missense_Mutation_p.R614H|SELP_ENST00000458599.2_Missense_Mutation_p.R614H|SELP_ENST00000367791.2_Missense_Mutation_p.R612H|SELP_ENST00000367788.2_Missense_Mutation_p.R736H	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	798					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTGTCTGAAACGCTTTCTTAG	0.423													C|||	2	0.000399361	0	0.0014	5008	,	,		18585	0		0.001	False		,,,				2504	0					uc001ggi.4																			0		p.R798C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2392-2394)cGt>cAt		Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						73	72	73					1																	169562857		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562857C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2393G>A	1.37:g.169562857C>T	ENSP00000263686:p.Arg798His					SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.R797H	p.R798H	NM_003005	NP_002996	P16109	LYAM3_HUMAN			13	2458	-	all_hematologic(923;0.208)		798					Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.2393G>A	CCDS1282.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	16.83	3.232109	0.58777	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.29655	2.03;1.84;1.56;1.6;1.82;1.84;1.56	5.62	4.7	0.59300	.	0.099958	0.45361	D	0.000367	T	0.13457	0.0326	L	0.43152	1.355	0.18873	N	0.999989	D;D	0.63046	0.983;0.992	B;B	0.42653	0.394;0.363	T	0.06752	-1.0809	10	0.44086	T	0.13	-17.064	9.4639	0.38800	0.0:0.9064:0.0:0.0936	.	797;798	Q6NUL9;P16109	.;LYAM3_HUMAN	H	612;798;797;614;798;736;736;614;612;736;736;721	ENSP00000263686:R798H;ENSP00000356767:R736H;ENSP00000356768:R736H;ENSP00000356766:R614H;ENSP00000356765:R612H;ENSP00000356762:R736H;ENSP00000356760:R736H	ENSP00000263686:R798H	R	-	2	0	SELP	167829481	0.379000	0.25123	0.210000	0.23637	0.936000	0.57629	2.256000	0.43231	2.639000	0.89480	0.650000	0.86243	CGT		0.423	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169562857	C	T	169562857	3	4	125	1	0	0	0	0	1	0	0	0	14019	536	19	1	111	1	SELP	1	169562857	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	9426409	169562857	79687764	5	8558											
FMO3	2328	broad.mit.edu	37	chr1	171080061	171080061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaatttaccgacagcCatctctgactggttgtacgt	12	11	8	10	2	1	2	0	1	1	1	2	3	1	2	2	1	4	2	2	1	5	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:171080061C>T	ENST00000367755.4	+	6	861	c.750C>T	c.(748-750)gcC>gcT	p.A250A	FMO3_ENST00000538429.1_Silent_p.A187A|FMO3_ENST00000392085.2_Silent_p.A250A|FMO3_ENST00000542847.1_Silent_p.A230A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	250					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TACCGACAGCCATCTCTGACT	0.468																																						uc001ghi.3																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(748-750)gcC>gcT		Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.							187	164	171					1																	171080061		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080061C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.750C>T	1.37:g.171080061C>T						FMO3_uc001ghh.3_Silent_p.A250A|FMO3_uc010pmb.2_Silent_p.A230A|FMO3_uc010pmc.2_Silent_p.A187A	p.A250A	NM_001002294	NP_008825	P31513	FMO3_HUMAN			5	861	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		250					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.750C>T	CCDS1292.1																																																																																				0.468	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		T	171080061	C	T	171080061	2	4	125	1	0	0	0	0	0	0	0	1	5956	581	21	3		3	FMO3	1	171080061	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	1517204	171080061	78170560	6	8559											
TNN	63923	broad.mit.edu	37	chr1	175067712	175067712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggagagcaagaaggcCgacaccaaggcccagacagg	15	0	14	12	1	0	3	0	0	0	3	0	6	0	3	4	4	1	1	4	4	3	0	rs200734177		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:175067712C>T	ENST00000239462.4	+	9	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	700	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A700A(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572													C|||	1	0.000199681	0	0	5008	,	,		19838	0.001		0	False		,,,				2504	0					uc001gkl.1																			2	Substitution - coding silent(2)	p.A700A(4)	urinary_tract(1)|endometrium(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2098-2100)gcC>gcT		Homo sapiens tenascin N (TNN), mRNA.							86	77	80					1																	175067712		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067712C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2100C>T	1.37:g.175067712C>T						TNN_uc010pmx.1_Silent_p.A611A	p.A700A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	8	2213	+		Breast(1374;0.000962)	700			Fibronectin type-III 5.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2100C>T	CCDS30943.1																																																																																				0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175067712	C	T	175067712	2	4	125	1	0	0	0	0	0	0	0	1	16320	639	23	2		2	TNN	1	175067712	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3987651	175067712	74182909	7	8560											
OR2T11	127077	broad.mit.edu	37	chr1	248790297	248790297	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgagagtccacctgaatcaAgaatatcatgaccaaatttg	15	9	8	9	1	2	4	2	2	0	2	3	5	3	4	3	0	0	0	3	0	5	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:248790297A>G	ENST00000330803.2	-	1	194	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGAATCAAGAATATCATG	0.502																																						uc001ier.1																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(133-135)Ttg>Ctg		Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.							62	71	69					1																	248790297		2050	4237	6287	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790297A>G	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.133T>C	1.37:g.248790297A>G							p.L45L	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	133	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		45					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.133T>C	CCDS31122.1																																																																																				0.502	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		G	248790297	A	G	248790297	2	3	125	1	0	0	0	0	0	0	0	1	11018	69	3	4		4	OR2T11	1	248790297	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	73722585	248790297	460324	8	8561											
THADA	63892	broad.mit.edu	37	chr2	43768396	43768396	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagcaacttccttcatacTtctccaacaacataccagca	15	10	2	14	0	2	0	1	0	1	0	4	0	3	0	3	0	7	2	3	0	7	6			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:43768396T>G	ENST00000405006.4	-	21	3517	c.3166A>C	c.(3166-3168)Agt>Cgt	p.S1056R	THADA_ENST00000415080.2_Missense_Mutation_p.S766R|THADA_ENST00000405975.2_Missense_Mutation_p.S1056R|THADA_ENST00000330266.7_Missense_Mutation_p.S766R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1056										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCTTCATACTTCTCCAACAA	0.418																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(3166-3168)Agt>Cgt		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							230	229	229					2																	43768396		2019	4192	6211	SO:0001583	missense	63892						binding	g.chr2:43768396T>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3166A>C	2.37:g.43768396T>G	ENSP00000385995:p.Ser1056Arg					THADA_uc010far.3_Missense_Mutation_p.S325R|THADA_uc002rsx.4_Missense_Mutation_p.S1056R|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	p.S1056R	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			20	3518	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1056					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3166A>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.34|19.34	3.809481|3.809481	0.70797|0.70797	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81494|0.81494	0.4834|0.4834	M|M	0.85462|0.85462	2.755|2.755	0.50039|0.50039	D|D	0.999847|0.999847	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.994;0.999;0.993;0.999	D|D	0.84754|0.84754	0.0758|0.0758	5|10	.|0.87932	.|D	.|0	.|.	15.9154|15.9154	0.79512|0.79512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|766;1057;766;1056	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	D|R	369|766;1056;1057;766;1056	.|ENSP00000331105:S766R;ENSP00000386088:S1056R;ENSP00000416048:S766R;ENSP00000385995:S1056R	.|ENSP00000331105:S766R	E|S	-|-	3|1	2|0	THADA|THADA	43621900|43621900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.352000|6.352000	0.73027|0.73027	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	GAA|AGT		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		G	43768396	T	G	43768396	3	3	125	1	0	0	0	0	1	0	0	0	15837	1609	56	5	2767	5	THADA	2	43768396	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08		43768396	199430977	9	8562											
SLC9A4	389015	broad.mit.edu	37	chr2	103095704	103095704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaggaagcgcgcgtgaaCgagcagctctacatgatgat	11	9	13	8	4	1	4	0	4	1	0	1	6	1	5	0	1	5	2	0	1	3	2	rs115868705	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:103095704C>T	ENST00000295269.4	+	2	1120	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	221					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCGCGTGAACGAGCAGCTCT	0.612													C|||	8	0.00159744	0.0061	0	5008	,	,		19315	0		0	False		,,,				2504	0					uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(661-663)aaC>aaT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.		C		17,4389	24.3+/-50.5	0,17,2186	52	40	44		663	-10.5	0	2	dbSNP_132	44	0,8600		0,0,4300	no	coding-synonymous	SLC9A4	NM_001011552.3		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		221/799	103095704	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095704C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.663C>T	2.37:g.103095704C>T							p.N221N	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	1120	+			221					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.663C>T	CCDS33264.1																																																																																				0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103095704	C	T	103095704	2	4	125	1	0	0	0	0	0	0	0	1	14716	535	19	1		1	SLC9A4	2	103095704	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	59327308	103095704	140103669	10	8563											
VIL1	7429	broad.mit.edu	37	chr2	219295468	219295468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcatcaaagccaagcaGtacccaccaagcacacaggt	16	5	6	14	0	2	0	2	0	0	0	2	0	2	0	3	1	5	3	3	1	5	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:219295468G>C	ENST00000248444.5	+	10	1057	c.969G>C	c.(967-969)caG>caC	p.Q323H	VIL1_ENST00000392114.2_Missense_Mutation_p.Q12H|VIL1_ENST00000440053.1_Missense_Mutation_p.Q323H	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	323	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCAAGCAGTACCCACCAA	0.557																																						uc002vib.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(967-969)caG>caC		Homo sapiens villin 1 (VIL1), mRNA.							82	76	78					2																	219295468		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295468G>C	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.969G>C	2.37:g.219295468G>C	ENSP00000248444:p.Gln323His					VIL1_uc010zke.2_Missense_Mutation_p.Q12H|VIL1_uc002via.3_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	p.Q323H	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	991	+		Renal(207;0.0474)	323			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.969G>C	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839406	0.32513	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	T;T;T	0.56941	0.43;0.98;0.43	4.22	3.32	0.38043	Gelsolin domain (1);	0.495873	0.19685	N	0.108412	T	0.41789	0.1174	N	0.25890	0.77	0.33799	D	0.626469	P;P	0.45011	0.848;0.628	P;P	0.49451	0.611;0.516	T	0.52230	-0.8603	10	0.39692	T	0.17	-16.0304	3.4683	0.07558	0.0995:0.2157:0.5401:0.1447	.	323;323	Q96AC8;P09327	.;VILI_HUMAN	H	323;12;323	ENSP00000248444:Q323H;ENSP00000375962:Q12H;ENSP00000409270:Q323H	ENSP00000248444:Q323H	Q	+	3	2	VIL1	219003712	0.998000	0.40836	1.000000	0.80357	0.820000	0.46376	0.509000	0.22707	2.199000	0.70637	0.462000	0.41574	CAG		0.557	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		C	219295468	G	C	219295468	3	2	125	1	0	0	0	0	1	0	0	0	17161	1020	36	5	1003	5	VIL1	2	219295468	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	116199764	219295468	23903905	11	8564											
FGD5	152273	broad.mit.edu	37	chr3	14861427	14861427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggatgtgaagaggccacGggtgtcacaggtggggaaca	11	5	19	6	1	1	2	1	1	0	1	1	5	1	4	1	6	1	0	1	6	2	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:14861427G>A	ENST00000285046.5	+	1	959	c.849G>A	c.(847-849)acG>acA	p.T283T	FGD5_ENST00000543601.1_Silent_p.T42T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	283	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGAGGCCACGGGTGTCACAG	0.607																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(847-849)acG>acA		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							38	43	41					3																	14861427		2088	4229	6317	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861427G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.849G>A	3.37:g.14861427G>A						FGD5_uc011avk.2_Silent_p.T283T	p.T283T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	959	+			283			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.849G>A	CCDS46767.1																																																																																				0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14861427	G	A	14861427	2	1	125	1	0	0	0	0	0	0	0	1	5836	1103	39	2		2	FGD5	3	14861427	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08		14861427	183161003	12	8565											
TRANK1	9881	broad.mit.edu	37	chr3	36874402	36874402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgccaccaagttcattttCgactgaactaaacacttggc	12	12	6	11	1	1	1	1	1	0	0	2	2	1	1	2	1	3	1	2	1	4	6			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:36874402C>T	ENST00000429976.2	-	21	6787	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S	TRANK1_ENST00000301807.6_Silent_p.S1630S|TRANK1_ENST00000428977.2_Silent_p.S1630S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2180							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378																																						uc003cgj.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6538-6540)tcG>tcA		Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.																																				SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874402C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6540G>A	3.37:g.36874402C>T							p.S2180S	NM_014831	NP_055646	O15050	TRNK1_HUMAN			20	6788	-			2180					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6540G>A	CCDS46789.2																																																																																				0.378	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36874402	C	T	36874402	2	4	125	1	0	0	0	0	0	0	0	1	16451	871	31	2		2	TRANK1	3	36874402	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	22012975	36874402	161148028	13	8566											
ZNF167	55888	broad.mit.edu	37	chr3	44611913	44611913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacccacacaggggaaaaAccctatgaatgcagtgagtg	16	5	11	9	0	0	3	0	2	0	1	0	4	0	4	2	2	3	1	2	2	5	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:44611913A>C	ENST00000273320.3	+	6	1740	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K437N|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGGGGAAAAACCCTATGAAT	0.473																																						uc003cnj.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1309-1311)aaA>aaC		Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.							39	42	41					3																	44611913		2203	4299	6502	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44611913A>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1311A>C	3.37:g.44611913A>C	ENSP00000273320:p.Lys437Asn					ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.K437N|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Missense_Mutation_p.K286N	p.K437N	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	5	1727	+			437					A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1311A>C	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	17.23	3.338033	0.60963	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.26067	1.76;1.76;1.76	4.24	-3.02	0.05446	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003541	T	0.44953	0.1318	M	0.73598	2.24	0.29519	N	0.853623	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.47573	-0.9107	10	0.87932	D	0	-13.0084	12.4673	0.55766	0.7776:0.0:0.2224:0.0	.	307;437	A7MAY2;Q9P0L1	.;ZN167_HUMAN	N	437;437;286	ENSP00000395524:K437N;ENSP00000273320:K437N;ENSP00000405034:K286N	ENSP00000273320:K437N	K	+	3	2	ZNF167	44586917	0.019000	0.18553	0.915000	0.36163	0.985000	0.73830	-0.487000	0.06505	-0.567000	0.06046	0.528000	0.53228	AAA		0.473	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		C	44611913	A	C	44611913	3	2	125	1	0	0	0	0	1	0	0	0	17738	40	2	5	1329	5	ZNF167	3	44611913	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	7737511	44611913	153410517	14	8567											
AMT	275	broad.mit.edu	37	chr3	49455400	49455400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatagcagctcggcggCgcttccctggagaatgacac	9	7	12	13	3	0	2	0	1	0	1	3	3	2	2	2	3	2	3	2	3	2	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:49455400C>T	ENST00000273588.3	-	8	1186	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Missense_Mutation_p.R295H|AMT_ENST00000458307.2_Missense_Mutation_p.R251H|AMT_ENST00000546031.1_Missense_Mutation_p.R198H|AMT_ENST00000538581.1_Missense_Mutation_p.R239H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	295					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	AGCTCGGCGGCGCTTCCCTGG	0.582																																						uc003cww.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(883-885)cGc>cAc		Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						18	18	18					3																	49455400		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455400C>T	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.884G>A	3.37:g.49455400C>T	ENSP00000273588:p.Arg295His					AMT_uc011bcn.2_Intron|AMT_uc003cwx.3_Missense_Mutation_p.R295H|AMT_uc011bco.2_Missense_Mutation_p.R251H|AMT_uc003cwy.3_Missense_Mutation_p.R247H|AMT_uc011bcq.2_Missense_Mutation_p.R239H|AMT_uc011bcp.2_Missense_Mutation_p.R198H	p.R295H	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	1112	-			295					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.884G>A	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599246	0.66332	.	.	ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031;ENST00000430521	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;P;P	0.72625	0.829;0.978;0.859;0.859	D	0.94013	0.7286	10	0.56958	D	0.05	-6.9289	15.3173	0.74092	0.0:1.0:0.0:0.0	.	239;251;295;295	B4DE61;B4DJQ0;E9PBG1;P48728	.;.;.;GCST_HUMAN	H	295;251;295;239;198;239	ENSP00000378747:R295H;ENSP00000415619:R251H;ENSP00000273588:R295H;ENSP00000443200:R239H;ENSP00000440672:R198H;ENSP00000388068:R239H	ENSP00000273588:R295H	R	-	2	0	AMT	49430404	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.697000	0.74603	2.211000	0.71520	0.462000	0.41574	CGC		0.582	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		T	49455400	C	T	49455400	3	4	125	1	0	0	0	0	1	0	0	0	589	768	27	1	363	1	AMT	3	49455400	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	4843487	49455400	148567030	15	8568											
CACNA1D	776	broad.mit.edu	37	chr3	53531323	53531323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcccaaactatgagcaCctctgcacccccacctgtag	9	7	8	17	0	1	1	0	1	1	0	1	1	1	1	5	1	4	4	5	1	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:53531323C>T	ENST00000350061.5	+	2	723	c.212C>T	c.(211-213)aCc>aTc	p.T71I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.T71I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.T71I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	71					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTATGAGCACCTCTGCACCC	0.542																																						uc003dgv.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(211-213)aCc>aTc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	Verapamil(DB00661)						120	133	128					3																	53531323		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53531323C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.212C>T	3.37:g.53531323C>T	ENSP00000288133:p.Thr71Ile					CACNA1D_uc003dgu.4_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.4_Missense_Mutation_p.T71I	p.T71I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	1	375	+			71					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.212C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942639	0.53079	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.96104	-3.87;-3.91;-3.89	5.61	5.61	0.85477	.	0.447611	0.21105	N	0.080096	D	0.92159	0.7514	N	0.24115	0.695	0.80722	D	1	B;B;B	0.17667	0.013;0.009;0.023	B;B;B	0.15484	0.006;0.008;0.013	D	0.87405	0.2372	10	0.54805	T	0.06	.	19.6372	0.95737	0.0:1.0:0.0:0.0	.	71;71;71	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	I	71	ENSP00000288133:T71I;ENSP00000288139:T71I;ENSP00000409174:T71I	ENSP00000288139:T71I	T	+	2	0	CACNA1D	53506363	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.765000	0.62271	2.642000	0.89623	0.561000	0.74099	ACC		0.542	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53531323	C	T	53531323	3	4	125	1	0	0	0	0	1	0	0	0	2541	507	18	3	218	3	CACNA1D	3	53531323	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	4075923	53531323	144491107	16	8569											
GCET2	257144	broad.mit.edu	37	chr3	111846908	111846908	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatatggtgatcccagcaTctaaaatacccaagagagat	15	8	9	9	1	1	3	0	1	1	2	2	5	2	3	2	1	2	1	2	1	5	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111846908T>C	ENST00000308910.4	-	3	283	c.99A>G	c.(97-99)agA>agG	p.R33R	GCSAM_ENST00000484193.1_Splice_Site_p.R35R|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	33					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GATCCCAGCATCTAAAATACC	0.408																																						uc021xcl.1																			0				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						c.e3-1		Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							126	113	117					3																	111846908		2203	4300	6503	SO:0001630	splice_region_variant	257144					mitochondrion		g.chr3:111846908T>C	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.99-1A>G	3.37:g.111846908T>C						C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Splice_Site_p.R33_splice|GCET2_uc021xcm.1_Intron	p.R35_splice	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN			3	290	-			33					C9JD17|C9JUG6	Silent	SNP	ENST00000308910.4	37	c.105_splice	CCDS2964.1																																																																																				0.408	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	Silent	C	111846908	T	C	111846908	5	2	125	1	0	0	0	0	0	0	1	0	6288	1449	50	4	453	4	GCET2	3	111846908	Splice_Site	SNP	T	TCGA-12-5301-01A-01D-1486-08	58315585	111846908	86175522	17	8570											
SLC9A10	285335	broad.mit.edu	37	chr3	111898484	111898484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagtctgtgtcaattatcGgaaaatctttctcctttgac	10	17	6	8	1	4	1	1	1	3	0	6	2	4	2	1	1	0	0	1	1	6	5	rs572197977	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111898484G>A	ENST00000305815.5	-	23	3065	c.2813C>T	c.(2812-2814)cCg>cTg	p.P938L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P890L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	938					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTCAATTATCGGAAAATCTTT	0.358													G|||	6	0.00119808	0	0	5008	,	,		14907	0		0	False		,,,				2504	0.0061					uc003dyu.3																			0											c.(2812-2814)cCg>cTg		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.							87	87	87					3																	111898484		2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111898484G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2813C>T	3.37:g.111898484G>A	ENSP00000306627:p.Pro938Leu					SLC9C1_uc011bhu.2_Missense_Mutation_p.P201L|SLC9C1_uc010hqc.3_Missense_Mutation_p.P890L	p.P938L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			22	3035	-			938					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2813C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	4.333	0.061279	0.08339	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77877	-1.13;-1.13	4.59	-0.581	0.11713	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	1.138080	0.06582	N	0.750532	T	0.67878	0.2940	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.50816	-0.8783	10	0.33940	T	0.23	-17.8003	9.9447	0.41602	0.1091:0.0:0.6643:0.2266	.	890;938	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	938;890	ENSP00000306627:P938L;ENSP00000420688:P890L	ENSP00000306627:P938L	P	-	2	0	SLC9A10	113381174	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.362000	0.08113	-1.303000	0.01326	CCG		0.358	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		A	111898484	G	A	111898484	3	1	125	1	0	0	0	0	1	0	0	0	14710	1116	39	2	748	2	SLC9A10	3	111898484	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	51576	111898484	86123946	18	8571											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		53	Substitution - Missense(53)	p.R88Q(102)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							107	102	104					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916876	G	A	178916876	3	1	125	1	0	0	0	0	1	0	0	0	11913	1058	37	2	265	2	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	67018392	178916876	19105554	19	8572											
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	17	7	8	9	1	1	4	1	2	0	2	3	4	2	4	3	1	2	2	3	1	8	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(20)|p.G106_R108del(4)|p.R108L(3)|p.G106_R108delGNR(3)|p.R108P(2)|p.R108del(2)|p.N107S(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							87	82	84					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108H	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916936	G	A	178916936	3	1	125	1	0	0	0	0	1	0	0	0	11913	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	60	178916936	19105494	20	8573											
MUC4	4585	broad.mit.edu	37	chr3	195484190	195484190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggtgtccacagcaacGtcccattctctgccccgggg	6	9	11	15	2	1	0	0	0	1	0	4	0	3	0	4	3	3	1	4	3	1	2	rs367749099		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:195484190G>A	ENST00000346145.4	-	17	2327	c.2288C>T	c.(2287-2289)aCg>aTg	p.T763M	MUC4_ENST00000349607.4_Missense_Mutation_p.T712M|MUC4_ENST00000475231.1_Missense_Mutation_p.T4947M|MUC4_ENST00000463781.3_Missense_Mutation_p.T4999M	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1756					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCACAGCAACGTCCCATTCTC	0.572																																						uc021xjp.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(14995-14997)aCg>aTg		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.		G	MET/THR,MET/THR,MET/THR	1,4405		0,1,2202	81	74	77		2288,14996,2135	3.3	0.3	3		77	0,8600		0,0,4300	no	missense,missense,missense	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	763/1177,4999/5413,712/1126	195484190	1,13005	2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195484190G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2288C>T	3.37:g.195484190G>A	ENSP00000304207:p.Thr763Met					MUC4_uc003fuz.3_Missense_Mutation_p.T597M|MUC4_uc003fva.3_Missense_Mutation_p.T479M|MUC4_uc003fvb.3_Missense_Mutation_p.T515M|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.T515M|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.T508M|MUC4_uc021xjn.1_Missense_Mutation_p.T688M|MUC4_uc021xjo.1_Missense_Mutation_p.T479M|MUC4_uc021xjg.1_Missense_Mutation_p.T479M|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.T563M|MUC4_uc021xjj.1_Missense_Mutation_p.T563M|MUC4_uc021xjk.1_Missense_Mutation_p.T740M|MUC4_uc021xjl.1_Missense_Mutation_p.T479M|MUC4_uc003fvo.3_Missense_Mutation_p.T763M|MUC4_uc003fvp.3_Missense_Mutation_p.T712M	p.T4999M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	17	15152	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1756					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14996C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287525	0.23478	2.27E-4	0.0	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.43294	0.95;1.31;1.21;1.27	5.12	3.29	0.37713	.	0.247105	0.28151	N	0.016409	T	0.54854	0.1884	M	0.62723	1.935	0.09310	N	1	D;P;P;D;D;D	0.89917	1.0;0.932;0.932;1.0;1.0;0.992	D;B;B;P;P;P	0.68621	0.959;0.373;0.373;0.869;0.869;0.593	T	0.45071	-0.9286	10	0.72032	D	0.01	-8.1871	6.7316	0.23387	0.0988:0.1883:0.713:0.0	.	4871;712;763;4999;4947;1704	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	M	712;763;4999;4947;1499	ENSP00000338109:T712M;ENSP00000304207:T763M;ENSP00000417498:T4999M;ENSP00000420243:T4947M	ENSP00000304207:T763M	T	-	2	0	MUC4	196969861	0.858000	0.29795	0.303000	0.25071	0.459000	0.32528	2.412000	0.44609	0.527000	0.28560	0.556000	0.70494	ACG		0.572	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		A	195484190	G	A	195484190	3	1	125	1	0	0	0	0	1	0	0	0	9978	1145	40	1	1274	1	MUC4	3	195484190	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	16567254	195484190	2538240	21	8574											
MFSD7	84179	broad.mit.edu	37	chr4	680077	680077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggcaaagttcagccaCgcacccaggatggtctgcga	9	6	11	15	3	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	1	1	rs371460109		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:680077C>T	ENST00000404286.2	-	3	324	c.309G>A	c.(307-309)gcG>gcA	p.A103A	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Silent_p.A39A|MFSD7_ENST00000322224.4_Silent_p.A103A|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	103					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTTCAGCCACGCACCCAGGA	0.652																																						uc003gay.3																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(307-309)gcG>gcA		Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.		T		0,4404		0,0,2202	52	52	52		309	-9.3	0	4		52	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MFSD7	NM_032219.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		103/560	680077	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84179				transmembrane transport	integral to membrane		g.chr4:680077C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.309G>A	4.37:g.680077C>T						MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.A103A|MFSD7_uc003gaz.3_Intron	p.A103A	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			2	366	-			103					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37	c.309G>A																																																																																					0.652	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		T	680077	C	T	680077	2	4	125	1	0	0	0	0	0	0	0	1	9537	523	19	1		1	MFSD7	4	680077	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		680077	190474199	22	8575											
KDR	3791	broad.mit.edu	37	chr4	55961059	55961059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgctgtccaagcgccGtttcagatccacagggattg	8	10	13	10	2	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	1	2	rs530419081		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:55961059G>A	ENST00000263923.4	-	21	3176	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	961	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R961W(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAAGCGCCGTTTCAGATCC	0.488			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G|||	1	0.000199681	0	0	5008	,	,		18407	0		0	False		,,,				2504	0.001					uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		1	Substitution - Missense(1)	p.R961W(2)	breast(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2881-2883)Cgg>Tgg		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						122	112	115					4																	55961059		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961059G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2881C>T	4.37:g.55961059G>A	ENSP00000263923:p.Arg961Trp	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.R961W	p.R961W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		20	3183	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		961			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2881C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111932	0.77210	.	.	ENSG00000128052	ENST00000263923	T	0.77620	-1.11	5.87	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.331135	0.32258	N	0.006349	T	0.77011	0.4068	L	0.42245	1.32	0.38997	D	0.959262	D	0.76494	0.999	P	0.53185	0.72	T	0.78303	-0.2256	10	0.72032	D	0.01	.	9.5094	0.39067	0.0669:0.0:0.679:0.2541	.	961	P35968	VGFR2_HUMAN	W	961	ENSP00000263923:R961W	ENSP00000263923:R961W	R	-	1	2	KDR	55655816	1.000000	0.71417	0.974000	0.42286	0.668000	0.39293	3.418000	0.52721	0.755000	0.32990	0.655000	0.94253	CGG		0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55961059	G	A	55961059	3	1	125	1	0	0	0	0	1	0	0	0	8139	1144	40	1	1229	1	KDR	4	55961059	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	55280982	55961059	135193217	23	8576											
FBN2	2201	broad.mit.edu	37	chr5	127623046	127623046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatagccaatcgggcaCgtgcattcataggacccaaa	13	6	11	11	2	1	0	1	0	0	0	2	1	1	1	2	3	2	3	2	3	4	3	rs374853253		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:127623046C>T	ENST00000508053.1	-	60	7808	c.6834G>A	c.(6832-6834)acG>acA	p.T2278T	FBN2_ENST00000262464.4_Silent_p.T2278T			P35556	FBN2_HUMAN	fibrillin 2	2278	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		T -> M (in dbSNP:rs2307109).		anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATCGGGCACGTGCATTCAT	0.483																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6832-6834)acG>acA		Homo sapiens fibrillin 2 (FBN2), mRNA.		C		0,4406		0,0,2203	169	155	160		6834	-10.7	0	5		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN2	NM_001999.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2278/2913	127623046	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127623046C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6834G>A	5.37:g.127623046C>T							p.T2278T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	53	7273	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2278		T -> M (in dbSNP:rs2307109).	EGF-like 38; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.6834G>A	CCDS34222.1																																																																																				0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127623046	C	T	127623046	2	4	125	1	0	0	0	0	0	0	0	1	5703	523	19	1		1	FBN2	5	127623046	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		127623046	53292214	24	8577											
WNT8A	7478	broad.mit.edu	37	chr5	137426568	137426568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccaggtgggagcgaCgtagctgtgggcgcctgtgc	7	7	16	11	3	0	0	0	0	0	0	1	2	1	1	2	3	3	2	2	3	1	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:137426568C>T	ENST00000398754.1	+	6	867	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	WNT8A_ENST00000506684.1_Missense_Mutation_p.R306C	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	288					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGGAGCGACGTAGCTGTGG	0.542																																						uc011cyk.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.(916-918)Cgt>Tgt		Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.							103	109	107					5																	137426568		2100	4235	6335	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426568C>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.862C>T	5.37:g.137426568C>T	ENSP00000381739:p.Arg288Cys					WNT8A_uc011cyj.1_Missense_Mutation_p.R306C|WNT8A_uc003lcd.1_Missense_Mutation_p.R288C	p.R306C			Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	1152	+			288					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.916C>T	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856286	0.17106	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76578	-1.03;-1.03;-1.03	4.96	2.08	0.27032	.	0.386304	0.25695	N	0.028904	T	0.72510	0.3469	M	0.73962	2.25	0.22918	N	0.998565	B;B;B	0.26602	0.154;0.154;0.015	B;B;B	0.27715	0.082;0.082;0.002	T	0.65158	-0.6236	10	0.59425	D	0.04	.	4.8389	0.13478	0.2244:0.53:0.0:0.2457	.	306;306;288	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	C	306;306;288	ENSP00000426653:R306C;ENSP00000424809:R306C;ENSP00000381739:R288C	ENSP00000354726:R288C	R	+	1	0	WNT8A	137454467	0.000000	0.05858	0.002000	0.10522	0.615000	0.37417	0.002000	0.13061	0.233000	0.21120	-0.459000	0.05422	CGT		0.542	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		T	137426568	C	T	137426568	3	4	125	1	0	0	0	0	1	0	0	0	17393	536	19	1	884	1	WNT8A	5	137426568	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	9803522	137426568	43488692	25	8578											
DND1	373863	broad.mit.edu	37	chr5	140052370	140052370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctgaaggtcatcatcagGcggaactcgtagaggcggcc	9	6	14	12	4	3	2	3	1	0	1	4	3	3	3	2	5	1	2	2	5	3	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:140052370G>A	ENST00000542735.1	-	3	307	c.264C>T	c.(262-264)cgC>cgT	p.R88R		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	88	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCATCAGGCGGAACTCGT	0.667																																						uc003lgt.3																			0				central_nervous_system(1)|prostate(4)	5						c.(262-264)cgC>cgT		Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.							11	15	14					5																	140052370		2176	4275	6451	SO:0001819	synonymous_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052370G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.264C>T	5.37:g.140052370G>A							p.R88R	NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	308	-			88			RRM 1.			Silent	SNP	ENST00000542735.1	37	c.264C>T	CCDS4236.1																																																																																				0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140052370	G	A	140052370	2	1	125	1	0	0	0	0	0	0	0	1	4666	1190	42	3		3	DND1	5	140052370	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	2625802	140052370	40862890	26	8579											
GABRB2	2561	broad.mit.edu	37	chr5	160721276	160721276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagagcatttcggccaaAactatgcctgggcaacccag	11	8	9	13	1	0	1	0	0	0	1	2	1	1	1	4	2	4	2	4	2	4	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:160721276A>G	ENST00000393959.1	-	10	1350	c.1351T>C	c.(1351-1353)Ttt>Ctt	p.F451L	GABRB2_ENST00000517547.1_Missense_Mutation_p.F253L|GABRB2_ENST00000517901.1_Missense_Mutation_p.F350L|GABRB2_ENST00000520240.1_Missense_Mutation_p.F413L|GABRB2_ENST00000274547.2_Missense_Mutation_p.F451L|GABRB2_ENST00000353437.6_Missense_Mutation_p.F413L			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	451					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCGGCCAAAACTATGCCTG	0.527																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1351-1353)Ttt>Ctt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						108	96	100					5																	160721276		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721276A>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1351T>C	5.37:g.160721276A>G	ENSP00000377531:p.Phe451Leu					GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L	p.F451L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1569	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	451					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1351T>C	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063706	0.36373	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.88;-1.88;-1.88;-1.88	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.446895	0.27922	N	0.017318	T	0.76877	0.4049	L	0.28400	0.85	0.47511	D	0.999446	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.09377	0.004;0.001;0.004;0.001	T	0.71391	-0.4607	10	0.10111	T	0.7	.	16.0383	0.80645	1.0:0.0:0.0:0.0	.	253;350;451;413	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	L	451;451;413;413;350;253	ENSP00000377531:F451L;ENSP00000274547:F451L;ENSP00000274546:F413L;ENSP00000429320:F413L;ENSP00000430532:F350L;ENSP00000429750:F253L	ENSP00000274547:F451L	F	-	1	0	GABRB2	160653854	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.189000	0.77747	2.192000	0.70111	0.528000	0.53228	TTT		0.527	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			G	160721276	A	G	160721276	3	3	125	1	0	0	0	0	1	0	0	0	6167	14	1	4	191	4	GABRB2	5	160721276	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	20668906	160721276	20193984	27	8580											
ZNF451	26036	broad.mit.edu	37	chr6	57013164	57013164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcagtttatgttcggcaAcagcacagaatttaaccgac	12	10	9	10	2	0	1	0	0	0	1	1	2	0	1	1	1	4	6	1	1	4	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:57013164A>G	ENST00000370706.4	+	10	2525	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.T761A|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.T761A	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGTTCGGCAACAGCACAGAA	0.408																																						uc003pdm.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2281-2283)Aca>Gca		Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.							80	72	75					6																	57013164		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013164A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2281A>G	6.37:g.57013164A>G	ENSP00000359740:p.Thr761Ala					ZNF451_uc003pdl.3_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T761A	p.T761A	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		9	2505	+	Lung NSC(77;0.145)		761					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2281A>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670483	0.47781	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19669	2.14;2.13;2.14	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);	0.056296	0.64402	D	0.000001	T	0.33498	0.0865	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.964;1.0	D;D;P;D	0.87578	0.997;0.998;0.88;0.998	T	0.04855	-1.0922	10	0.33940	T	0.23	-15.8057	14.9651	0.71184	1.0:0.0:0.0:0.0	.	761;761;761;761	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	A	761	ENSP00000359740:T761A;ENSP00000350083:T761A;ENSP00000421645:T761A	ENSP00000350083:T761A	T	+	1	0	ZNF451	57121123	1.000000	0.71417	0.994000	0.49952	0.188000	0.23474	5.319000	0.65835	1.984000	0.57885	0.455000	0.32223	ACA		0.408	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		G	57013164	A	G	57013164	3	3	125	1	0	0	0	0	1	0	0	0	17919	43	2	4	2319	4	ZNF451	6	57013164	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08		57013164	114101903	28	8581											
C6orf221	154288	broad.mit.edu	37	chr6	74073368	74073368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgggaggccgggacgcagCgttcggtggaggtccgggag	5	5	21	10	6	0	0	0	0	0	0	3	4	2	4	3	7	1	2	3	7	0	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:74073368C>T	ENST00000370367.3	+	3	492	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	147							RNA binding (GO:0003723)										CGGGACGCAGCGTTCGGTGGA	0.667																																						uc003pgt.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						c.(439-441)Cgt>Tgt		Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.							30	37	34					6																	74073368		2202	4300	6502	SO:0001583	missense	154288							g.chr6:74073368C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.439C>T	6.37:g.74073368C>T	ENSP00000359392:p.Arg147Cys						p.R147C	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			2	492	+			147					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.439C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865148	0.51482	.	.	ENSG00000203908	ENST00000370367	T	0.49720	0.77	2.8	-1.36	0.09085	.	1.817420	0.03245	N	0.180965	T	0.32675	0.0837	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	P	0.57776	0.827	T	0.08534	-1.0717	10	0.46703	T	0.11	-0.7276	2.004	0.03473	0.1902:0.3116:0.3732:0.125	.	147	Q587J8	ECAT1_HUMAN	C	147	ENSP00000359392:R147C	ENSP00000359392:R147C	R	+	1	0	C6orf221	74130089	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-2.465000	0.00995	-0.345000	0.08325	0.655000	0.94253	CGT		0.667	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		T	74073368	C	T	74073368	3	4	125	1	0	0	0	0	1	0	0	0	2355	768	27	1	449	1	C6orf221	6	74073368	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	17060204	74073368	97041699	29	8582											
HEY2	23493	broad.mit.edu	37	chr6	126080280	126080280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggctactttgacgcacacGctcttgccatggacttcatg	8	12	9	12	2	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	2	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:126080280G>A	ENST00000368364.3	+	5	543	c.346G>A	c.(346-348)Gct>Act	p.A116T	HEY2_ENST00000368365.1_Missense_Mutation_p.A70T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	116	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGACGCACACGCTCTTGCCAT	0.522																																						uc003qad.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(346-348)Gct>Act		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							129	120	123					6																	126080280		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080280G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.346G>A	6.37:g.126080280G>A	ENSP00000357348:p.Ala116Thr					HEY2_uc011ebr.2_Missense_Mutation_p.A70T	p.A116T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	4	537	+			116			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.346G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180442	0.57800	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.42900	0.96;0.96	5.58	5.58	0.84498	.	0.154134	0.43260	D	0.000599	T	0.24198	0.0586	L	0.45744	1.44	0.42755	D	0.993782	B	0.15719	0.014	B	0.12156	0.007	T	0.03344	-1.1046	10	0.32370	T	0.25	-3.7294	15.2813	0.73787	0.0:0.0:0.8512:0.1488	.	116	Q9UBP5	HEY2_HUMAN	T	70;116	ENSP00000357349:A70T;ENSP00000357348:A116T	ENSP00000357348:A116T	A	+	1	0	HEY2	126121973	1.000000	0.71417	0.418000	0.26571	0.961000	0.63080	3.277000	0.51654	2.629000	0.89072	0.561000	0.74099	GCT		0.522	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			A	126080280	G	A	126080280	3	1	125	1	0	0	0	0	1	0	0	0	7079	1087	38	1	364	1	HEY2	6	126080280	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	52006912	126080280	45034787	30	8583											
CALCR	799	broad.mit.edu	37	chr7	93072970	93072970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagtaaacacagccaCgacaatgagtgtatgaagat	15	9	8	9	1	1	3	1	2	1	1	2	4	1	3	1	0	2	2	1	0	5	3	rs548671354		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:93072970C>T	ENST00000394441.1	-	8	1063	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	CALCR_ENST00000359558.2_Missense_Mutation_p.V284M|CALCR_ENST00000360249.4_Missense_Mutation_p.V266M|CALCR_ENST00000421592.1_Missense_Mutation_p.V266M|CALCR_ENST00000426151.1_Missense_Mutation_p.V250M	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	284					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AACACAGCCACGACAATGAGT	0.448																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(850-852)Gtg>Atg		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						145	135	138					7																	93072970		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93072970C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.748G>A	7.37:g.93072970C>T	ENSP00000377959:p.Val250Met					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	p.V284M	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		10	1150	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		266					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.850G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685517	0.47991	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.94	-0.207	0.13189	.	.	.	.	.	T	0.37972	0.1023	M	0.66439	2.03	0.35241	D	0.77781	P;P	0.51653	0.862;0.947	P;P	0.50192	0.574;0.634	T	0.49643	-0.8918	9	0.15499	T	0.54	.	7.7663	0.28982	0.1114:0.6289:0.0:0.2598	.	284;250	F5H605;A4D1G6	.;.	M	284;266;266;250;250	ENSP00000352561:V284M;ENSP00000353385:V266M;ENSP00000399552:V266M;ENSP00000377959:V250M;ENSP00000389295:V250M	ENSP00000352561:V284M	V	-	1	0	CALCR	92910906	1.000000	0.71417	0.030000	0.17652	0.000000	0.00434	3.219000	0.51200	-0.369000	0.08028	-2.049000	0.00408	GTG		0.448	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		T	93072970	C	T	93072970	3	4	125	1	0	0	0	0	1	0	0	0	2579	536	19	1	700	1	CALCR	7	93072970	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		93072970	66065693	31	8584											
JHDM1D	80853	broad.mit.edu	37	chr7	139833358	139833358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggaagactcgagagcGtaattccttaatgaaagttc	12	11	10	8	2	0	3	0	1	0	2	3	5	1	4	2	1	1	2	2	1	4	5	rs550261955		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:139833358G>A	ENST00000397560.2	-	3	476	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R127C	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		127					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCGAGAGCGTAATTCCTTA	0.378																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(379-381)Cgc>Tgc		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.							126	117	120					7																	139833358		1858	4099	5957	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139833358G>A																												ENST00000397560.2:c.379C>T	7.37:g.139833358G>A	ENSP00000380692:p.Arg127Cys						p.R127C	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			2	383	-	Melanoma(164;0.0142)		127					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.379C>T	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956138	0.92726	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.16073	2.6;2.37	5.31	5.31	0.75309	.	0.054650	0.85682	D	0.000000	T	0.29783	0.0744	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	P	0.51742	0.678	T	0.01720	-1.1288	10	0.87932	D	0	-13.5001	19.3294	0.94280	0.0:0.0:1.0:0.0	.	127	Q6ZMT4	KDM7_HUMAN	C	127	ENSP00000380692:R127C;ENSP00000006967:R127C	ENSP00000006967:R127C	R	-	1	0	JHDM1D	139479827	1.000000	0.71417	0.914000	0.36105	0.959000	0.62525	9.789000	0.99068	2.625000	0.88918	0.650000	0.86243	CGC		0.378	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			A	139833358	G	A	139833358	3	1	125	1	0	0	0	0	1	0	0	0	7948	1145	40	1	2518	1	JHDM1D	7	139833358	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	46760388	139833358	19305305	32	8585											
EPHB6	2051	broad.mit.edu	37	chr7	142568575	142568575	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccctgggcatcacccTggctggccaccagaagaagc	8	5	12	16	0	1	2	1	0	0	2	1	2	1	2	5	3	2	2	5	3	2	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142568575T>A	ENST00000392957.2	+	20	3771	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.L718Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.L995Q|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	995	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCATCACCCTGGCTGGCCAC	0.617																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2983-2985)cTg>cAg		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							63	59	60					7																	142568575		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568575T>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2984T>A	7.37:g.142568575T>A	ENSP00000376684:p.Leu995Gln					EPHB6_uc011ksu.2_Missense_Mutation_p.L995Q|EPHB6_uc003wbs.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.3_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.3_Missense_Mutation_p.L379Q	p.L995Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN			19	3771	+	Melanoma(164;0.059)		995			SAM.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2984T>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430379	0.83776	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.85088	-1.94;-1.94;-1.94	5.1	5.1	0.69264	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.36101	N	0.002786	D	0.92080	0.7490	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92812	0.6265	10	0.59425	D	0.04	.	14.061	0.64800	0.0:0.0:0.0:1.0	.	995;718	O15197;O15197-2	EPHB6_HUMAN;.	Q	995;995;718	ENSP00000376684:L995Q;ENSP00000410789:L995Q;ENSP00000409061:L718Q	ENSP00000376684:L995Q	L	+	2	0	EPHB6	142278697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	1.912000	0.55364	0.533000	0.62120	CTG		0.617	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142568575	T	A	142568575	3	1	125	1	0	0	0	0	1	0	0	0	5178	1580	55	5	3046	5	EPHB6	7	142568575	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08	2735217	142568575	16570088	33	8586											
KEL	3792	broad.mit.edu	37	chr7	142638355	142638355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagttaccagagctggcagCggctggaggggttcaagaga	11	6	16	8	1	1	2	1	0	0	2	1	4	1	3	1	5	3	5	1	5	3	2	rs201835469		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142638355C>T	ENST00000355265.2	-	19	2657	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	728					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCTGGCAGCGGCTGGAGGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		17761	0.001		0	False		,,,				2504	0					uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(2182-2184)cGc>cAc		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							77	80	79					7																	142638355		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638355C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2183G>A	7.37:g.142638355C>T	ENSP00000347409:p.Arg728His						p.R728H	NM_000420	NP_000411	P23276	KELL_HUMAN			18	2393	-	Melanoma(164;0.059)		728					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.2183G>A	CCDS34766.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.209	1.030374	0.19512	.	.	ENSG00000197993	ENST00000355265	D	0.85484	-1.99	4.77	-2.71	0.05986	Peptidase M13, neprilysin, C-terminal (1);	0.513540	0.17222	N	0.182300	T	0.80319	0.4601	M	0.70595	2.14	0.24148	N	0.99571	B	0.30236	0.274	B	0.26094	0.066	T	0.70278	-0.4916	10	0.56958	D	0.05	-22.5515	10.261	0.43427	0.0:0.3968:0.0:0.6032	.	728	P23276	KELL_HUMAN	H	728	ENSP00000347409:R728H	ENSP00000347409:R728H	R	-	2	0	KEL	142348477	0.184000	0.23200	0.358000	0.25811	0.257000	0.26127	-1.077000	0.03416	-0.510000	0.06523	-0.142000	0.14014	CGC		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142638355	C	T	142638355	3	4	125	1	0	0	0	0	1	0	0	0	8142	768	27	1	19	1	KEL	7	142638355	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	69780	142638355	16500308	34	8587											
XKR6	286046	broad.mit.edu	37	chr8	11058779	11058779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcgccgccgctgcccaCcgcctcgtccaggttgtgca	3	8	10	20	5	0	0	0	0	0	0	4	0	2	0	7	1	2	3	7	1	0	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr8:11058779C>T	ENST00000416569.2	-	1	96	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	XKR6_ENST00000297303.4_Missense_Mutation_p.V24M|AF131215.8_ENST00000602443.1_lincRNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	24	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGCTGCCCACCGCCTCGTCC	0.726																																						uc003wtk.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(70-72)Gtg>Atg		Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.							7	7	7					8																	11058779		1697	3395	5092	SO:0001583	missense	286046					integral to membrane		g.chr8:11058779C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.70G>A	8.37:g.11058779C>T	ENSP00000416707:p.Val24Met						p.V24M	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	0	97	-			24			Gly-rich.		Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.70G>A	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	c	17.83	3.486208	0.63962	.	.	ENSG00000171044	ENST00000416569;ENST00000297303	D	0.88741	-2.42	3.7	2.81	0.32909	.	0.475226	0.16005	U	0.234136	T	0.76744	0.4030	N	0.08118	0	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.69917	-0.5015	10	0.87932	D	0	.	8.9989	0.36069	0.0:0.8842:0.0:0.1158	.	24	Q5GH73	XKR6_HUMAN	M	24	ENSP00000416707:V24M	ENSP00000297303:V24M	V	-	1	0	XKR6	11096189	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.785000	0.55424	0.654000	0.30846	0.450000	0.29827	GTG		0.726	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		T	11058779	C	T	11058779	3	4	125	1	0	0	0	0	1	0	0	0	17432	507	18	3	1867	3	XKR6	8	11058779	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		11058779	135305243	35	8588											
TMEM215	401498	broad.mit.edu	37	chr9	32784817	32784817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctcctacaagcagaaCagcccgtatgacagatactg	12	9	9	11	1	0	3	0	1	0	2	1	3	1	3	2	0	6	4	2	0	5	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:32784817C>T	ENST00000342743.5	+	2	1001	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	212						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAAGCAGAACAGCCCGTATG	0.493																																						uc022bfh.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(634-636)aaC>aaT		Homo sapiens transmembrane protein 215 (TMEM215), mRNA.							80	69	73					9																	32784817		2202	4295	6497	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784817C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.636C>T	9.37:g.32784817C>T						TMEM215_uc003zri.4_Silent_p.N212N	p.N212N	NM_212558	NP_997723	Q68D42	TM215_HUMAN			0	636	+			212					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.636C>T	CCDS6530.1																																																																																				0.493	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		T	32784817	C	T	32784817	2	4	125	1	0	0	0	0	0	0	0	1	16135	477	17	3		3	TMEM215	9	32784817	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		32784817	108428614	36	8589											
CCIN	881	broad.mit.edu	37	chr9	36170861	36170861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaccagcactggggaCgtggtccagtgtatcacctt	8	11	11	11	1	1	1	1	1	0	0	2	2	2	2	3	3	1	2	3	3	1	3	rs562247970	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:36170861C>T	ENST00000335119.2	+	1	1473	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	454					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCACTGGGGACGTGGTCCAGT	0.557													C|||	2	0.000399361	0	0	5008	,	,		21839	0		0	False		,,,				2504	0.002					uc003zzb.4																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1360-1362)gaC>gaT		Homo sapiens calicin (CCIN), mRNA.							131	112	118					9																	36170861		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170861C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1362C>T	9.37:g.36170861C>T							p.D454D	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		0	1473	+			454					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1362C>T	CCDS6599.1																																																																																				0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		T	36170861	C	T	36170861	2	4	125	1	0	0	0	0	0	0	0	1	2878	535	19	1		1	CCIN	9	36170861	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3386044	36170861	105042570	37	8590											
FOXB2	442425	broad.mit.edu	37	chr9	79634932	79634932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatactcacttgcacgCgggaagcaccaagagcgcgc	11	4	11	15	5	1	1	1	0	0	1	1	3	1	2	2	1	4	2	2	1	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:79634932C>T	ENST00000376708.1	+	1	362	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CACTTGCACGCGGGAAGCACC	0.687																																						uc004ako.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(361-363)gCg>gTg		Homo sapiens forkhead box B2 (FOXB2), mRNA.							15	19	17					9																	79634932		2201	4294	6495	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634932C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.362C>T	9.37:g.79634932C>T	ENSP00000365898:p.Ala121Val						p.A121V	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			0	362	+			121						Missense_Mutation	SNP	ENST00000376708.1	37	c.362C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047078	0.55110	.	.	ENSG00000204612	ENST00000376708	D	0.96774	-4.12	4.29	4.29	0.51040	.	13.518200	0.00918	N	0.002546	D	0.91348	0.7271	N	0.08118	0	0.27398	N	0.954925	B	0.31519	0.327	B	0.24155	0.051	T	0.83115	-0.0121	10	0.33141	T	0.24	.	12.2459	0.54571	0.0:1.0:0.0:0.0	.	121	Q5VYV0	FOXB2_HUMAN	V	121	ENSP00000365898:A121V	ENSP00000365898:A121V	A	+	2	0	FOXB2	78824752	0.014000	0.17966	0.864000	0.33941	0.935000	0.57460	2.094000	0.41719	1.923000	0.55706	0.462000	0.41574	GCG		0.687	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		T	79634932	C	T	79634932	3	4	125	1	0	0	0	0	1	0	0	0	5993	768	27	1	364	1	FOXB2	9	79634932	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	43464071	79634932	61578499	38	8591											
ZNF618	114991	broad.mit.edu	37	chr9	116731434	116731434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccggaaggaaaagcactgCgagcaggtacactccctctc	12	5	11	13	2	1	0	0	0	1	0	3	3	2	2	2	3	5	3	2	3	4	1	rs143368881		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:116731434C>T	ENST00000374126.5	+	2	170	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ZNF618_ENST00000288466.7_Missense_Mutation_p.A24V			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAAGCACTGCGAGCAGGTAC	0.557													C|||	1	0.000199681	0	0	5008	,	,		19450	0		0.001	False		,,,				2504	0					uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(70-72)gCg>gTg		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.		C	VAL/ALA	0,4084		0,0,2042	144	162	156		71	3.2	0.1	9	dbSNP_134	156	1,8381		0,1,4190	no	missense	ZNF618	NM_133374.2	64	0,1,6232	TT,TC,CC		0.0119,0.0,0.0080	benign	24/862	116731434	1,12465	2042	4191	6233	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116731434C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.71C>T	9.37:g.116731434C>T	ENSP00000363241:p.Ala24Val					ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.3_Missense_Mutation_p.A24V|ZNF618_uc011lxi.2_Missense_Mutation_p.A24V|ZNF618_uc011lxj.2_Missense_Mutation_p.A24V	p.A24V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			1	170	+			24					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.71C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.297	0.819063	0.16607	0.0	1.19E-4	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.16597	4.51;2.81;2.33	5.05	3.16	0.36331	.	0.644179	0.13650	N	0.372333	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14012	0.001;0.001;0.009;0.0;0.003	B;B;B;B;B	0.08055	0.0;0.0;0.003;0.0;0.002	T	0.32188	-0.9916	10	0.25751	T	0.34	-5.2878	7.7808	0.29064	0.0:0.8007:0.0:0.1993	.	24;24;24;24;24	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	V	24	ENSP00000288466:A24V;ENSP00000395400:A24V;ENSP00000363239:A24V	ENSP00000288466:A24V	A	+	2	0	ZNF618	115771255	0.000000	0.05858	0.068000	0.19968	0.442000	0.32017	0.497000	0.22514	1.234000	0.43709	0.591000	0.81541	GCG		0.557	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116731434	C	T	116731434	3	4	125	1	0	0	0	0	1	0	0	0	18039	768	27	1	77	1	ZNF618	9	116731434	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	37096502	116731434	24481997	39	8592											
DBH	1621	broad.mit.edu	37	chr9	136517375	136517375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgccccaggagatccGcatgttgaagaaggtcgtgt	8	9	13	11	2	0	3	0	1	0	2	2	4	1	3	4	2	2	2	4	2	2	1	rs372946596		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:136517375G>A	ENST00000393056.2	+	8	1355	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	448					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CAGGAGATCCGCATGTTGAAG	0.672																																						uc004cel.3																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1342-1344)cGc>cAc		Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	Dopamine(DB00988)|Vitamin C(DB00126)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	87	92		1343	5	1	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBH	NM_000787.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	448/618	136517375	2,13004	2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136517375G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1343G>A	9.37:g.136517375G>A	ENSP00000376776:p.Arg448His						p.R448H	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	7	1352	+			448					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1343G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740805	0.89573	2.27E-4	1.16E-4	ENSG00000123454	ENST00000393056	T	0.78246	-1.16	4.98	4.98	0.66077	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87842	0.6279	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.88622	0.3163	10	0.56958	D	0.05	-37.5737	18.6096	0.91279	0.0:0.0:1.0:0.0	.	448	P09172	DOPO_HUMAN	H	448	ENSP00000376776:R448H	ENSP00000376776:R448H	R	+	2	0	DBH	135507196	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.163000	0.71880	2.454000	0.82982	0.655000	0.94253	CGC		0.672	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		A	136517375	G	A	136517375	3	1	125	1	0	0	0	0	1	0	0	0	4250	1087	38	1	1373	1	DBH	9	136517375	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	19785941	136517375	4696056	40	8593											
SLC34A3	142680	broad.mit.edu	37	chr9	140127306	140127306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggactggtcattggCgtgctggtcacagccctggt	4	11	16	10	1	2	0	2	0	0	0	2	1	2	1	1	6	2	2	1	6	0	1	rs142873841	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:140127306C>T	ENST00000538474.1	+	5	599	c.375C>T	c.(373-375)ggC>ggT	p.G125G	SLC34A3_ENST00000361134.2_Silent_p.G125G	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	125					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGTCATTGGCGTGCTGGTCA	0.617													c|||	5	0.000998403	0.003	0.0014	5008	,	,		14256	0		0	False		,,,				2504	0					uc022bqf.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(373-375)ggC>ggT		Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.			,,	14,4386	21.2+/-45.6	0,14,2186	86	63	70		375,375,375	-7.3	0.4	9	dbSNP_134	70	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,14,6485	TT,TC,CC		0.0,0.3182,0.1077	,,	125/600,125/600,125/600	140127306	14,12984	2200	4299	6499	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140127306C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.375C>T	9.37:g.140127306C>T						SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Silent_p.G125G|SLC34A3_uc004cmf.1_Silent_p.G125G	p.G125G	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	596	+	all_cancers(76;0.0926)		125					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.375C>T	CCDS7038.1																																																																																				0.617	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		T	140127306	C	T	140127306	2	4	125	1	0	0	0	0	0	0	0	1	14569	755	27	1		1	SLC34A3	9	140127306	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3609931	140127306	1086125	41	8594											
C10orf47	254427	broad.mit.edu	37	chr10	11908649	11908649	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgcgatggaggagtGtgctgcctctgctccccgtc	3	11	15	12	2	1	0	0	0	1	0	3	3	2	2	3	2	5	3	3	2	0	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:11908649G>A	ENST00000277570.5	+	3	412	c.258G>A	c.(256-258)gtG>gtA	p.V86V	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR|PROSER2_ENST00000379200.1_5'Flank|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	86																	ATGGAGGAGTGTGCTGCCTCT	0.577																																						uc001ikx.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(256-258)gtG>gtA		Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.							91	70	77					10																	11908649		2203	4300	6503	SO:0001819	synonymous_variant	254427							g.chr10:11908649G>A	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.258G>A	10.37:g.11908649G>A						LOC219731_uc001iky.2_Intron	p.V86V	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			2	412	+			86					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	c.258G>A	CCDS7085.1																																																																																				0.577	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		A	11908649	G	A	11908649	2	1	125	1	0	0	0	0	0	0	0	1	1605	1364	48	3		3	C10orf47	10	11908649	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08		11908649	123626098	42	8595											
PPYR1	5540	broad.mit.edu	37	chr10	47086808	47086808	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacctctcacctcctggccTtgctgctcccaaaatctcca	8	10	4	19	0	2	0	1	0	2	0	6	0	4	0	6	1	2	2	6	1	2	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47086808T>A	ENST00000395716.1	+	2	110	c.25T>A	c.(25-27)Ttg>Atg	p.L9M	NPY4R_ENST00000374312.1_Missense_Mutation_p.L9M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	9					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTCCTGGCCTTGCTGCTCCC	0.493																																						uc001jee.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(25-27)Ttg>Atg		Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.							113	106	108					10																	47086808		2203	4300	6503	SO:0001583	missense	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47086808T>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.25T>A	10.37:g.47086808T>A	ENSP00000379066:p.Leu9Met					ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.L9M|PPYR1_uc021ppu.1_Missense_Mutation_p.L9M	p.L9M	NM_005972	NP_005963	P50391	NPY4R_HUMAN			2	444	+			9					Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.25T>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.599020	0.13939	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70516	-0.49;-0.49	4.67	1.0	0.19881	.	12.234000	0.00166	N	0.000000	T	0.64204	0.2577	L	0.44542	1.39	0.09310	N	0.999993	P	0.38642	0.641	B	0.38500	0.275	T	0.50524	-0.8818	10	0.33940	T	0.23	.	6.099	0.20037	0.0:0.3187:0.0:0.6813	.	9	P50391	NPY4R_HUMAN	M	9	ENSP00000363431:L9M;ENSP00000379066:L9M	ENSP00000363431:L9M	L	+	1	2	PPYR1	46506814	0.000000	0.05858	0.264000	0.24511	0.433000	0.31745	0.200000	0.17257	0.336000	0.23639	0.533000	0.62120	TTG		0.493	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			A	47086808	T	A	47086808	3	1	125	1	0	0	0	0	1	0	0	0	12416	1606	56	5	27	5	PPYR1	10	47086808	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08	35178159	47086808	88447939	43	8596											
PPYR1	5540	broad.mit.edu	37	chr10	47087737	47087737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggcctccacctgcgtcaaCccattcatctatggctttct	7	13	6	15	1	4	0	2	0	2	0	5	0	5	0	4	2	2	1	4	2	2	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47087737C>T	ENST00000395716.1	+	2	1039	c.954C>T	c.(952-954)aaC>aaT	p.N318N	NPY4R_ENST00000374312.1_Silent_p.N318N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	318					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTGCGTCAACCCATTCATCT	0.572																																						uc001jee.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(952-954)aaC>aaT		Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.							185	170	175					10																	47087737		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087737C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.954C>T	10.37:g.47087737C>T						ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.N318N|PPYR1_uc021ppu.1_Silent_p.N318N	p.N318N	NM_005972	NP_005963	P50391	NPY4R_HUMAN			2	1373	+			318					Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.954C>T	CCDS31193.1																																																																																				0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			T	47087737	C	T	47087737	2	4	125	1	0	0	0	0	0	0	0	1	12416	506	18	3		3	PPYR1	10	47087737	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	929	47087737	88447010	44	8597											
KIAA0913	23053	broad.mit.edu	37	chr10	75553915	75553915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcaggtgaagctggCataccaggagtctgaggtgg	8	8	16	9	0	2	2	1	2	1	0	2	3	2	3	2	5	3	2	2	5	2	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:75553915C>G	ENST00000605216.1	+	13	2853	c.2636C>G	c.(2635-2637)gCa>gGa	p.A879G	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A879G|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A879G|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A879G|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A846G	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	879							zinc ion binding (GO:0008270)										GTGAAGCTGGCATACCAGGAG	0.552																																						uc001jvj.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19						c.(2635-2637)gCa>gGa		Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.							104	109	107					10																	75553915		2036	4205	6241	SO:0001583	missense	23053						zinc ion binding	g.chr10:75553915C>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2636C>G	10.37:g.75553915C>G	ENSP00000474748:p.Ala879Gly					KIAA0913_uc001jve.3_Missense_Mutation_p.A879G|KIAA0913_uc009xrl.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.2_Missense_Mutation_p.A302G	p.A879G	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN			12	2891	+	Prostate(51;0.0112)		879					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.2636C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604337|4.604337	0.87157|0.87157	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000431225;ENST00000412198;ENST00000425051	T|.	0.54675|.	0.56|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.78136|0.78136	0.4236|0.4236	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999998|0.999998	P;D;P;P|.	0.67145|.	0.666;0.996;0.666;0.666|.	B;D;B;B|.	0.75484|.	0.139;0.986;0.139;0.139|.	T|T	0.77699|0.77699	-0.2490|-0.2490	10|5	0.38643|.	T|.	0.18|.	-1.3022|-1.3022	19.0761|19.0761	0.93163|0.93163	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;879;879;879|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	G|D	879|376;149;58	ENSP00000381693:A879G|.	ENSP00000381693:A879G|.	A|H	+|+	2|1	0|0	KIAA0913|KIAA0913	75223921|75223921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.773000|5.773000	0.68898|0.68898	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GCA|CAT		0.552	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		G	75553915	C	G	75553915	3	3	125	1	0	0	0	0	1	0	0	0	8200	710	25	5	2686	5	KIAA0913	10	75553915	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	28466178	75553915	59980832	45	8598											
EBF3	253738	broad.mit.edu	37	chr10	131755521	131755521	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaataaagaagtcatccttaCctgtcaatgattacagggtc	15	11	7	8	0	2	2	2	1	0	1	4	2	3	2	2	1	2	0	2	1	7	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:131755521C>G	ENST00000355311.5	-	6	627		c.e6+1		EBF3_ENST00000368648.3_Splice_Site			Q9H4W6	COE3_HUMAN	early B-cell factor 3						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTCATCCTTACCTGTCAATGA	0.423																																						uc021qav.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.e6+1		Homo sapiens early B-cell factor 3 (EBF3), mRNA.							145	134	138					10																	131755521		2203	4300	6503	SO:0001630	splice_region_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131755521C>G		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.554+1G>C	10.37:g.131755521C>G						EBF3_uc001lki.2_Splice_Site_p.R185_splice	p.R171_splice	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	613	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	185					A0AUY1|Q5T6H9|Q9H4W5	Splice_Site	SNP	ENST00000355311.5	37	c.512_splice		.	.	.	.	.	.	.	.	.	.	C	17.91	3.504793	0.64410	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EBF3	131645511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.767000	0.85331	2.824000	0.97209	0.655000	0.94253	.		0.423	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	Intron	G	131755521	C	G	131755521	5	3	125	1	0	0	0	0	0	0	1	0	4882	521	18	5	1144	5	EBF3	10	131755521	Splice_Site	SNP	C	TCGA-12-5301-01A-01D-1486-08	56201606	131755521	3779226	46	8599											
ZNF215	7762	broad.mit.edu	37	chr11	6977376	6977376	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgggaaagccttctgcCgaagttcatcccttattcga	10	12	9	10	2	2	0	1	0	1	0	4	3	3	1	3	1	2	1	3	1	4	4	rs368370827		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:6977376C>T	ENST00000278319.5	+	7	1756	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ZNF215_ENST00000414517.2_Nonsense_Mutation_p.R390*|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	390					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCCTTCTGCCGAAGTTCATC	0.393																																						uc001mey.3																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1168-1170)Cga>Tga		Homo sapiens zinc finger protein 215 (ZNF215), mRNA.		C	stop/ARG	0,4402		0,0,2201	72	70	71		1168	0.6	0.8	11		71	2,8590	2.2+/-6.3	0,2,4294	no	stop-gained	ZNF215	NM_013250.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		390/518	6977376	2,12992	2201	4296	6497	SO:0001587	stop_gained	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977376C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1168C>T	11.37:g.6977376C>T	ENSP00000278319:p.Arg390*					ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	p.R390*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	6	1756	+			390					Q96C84	Nonsense_Mutation	SNP	ENST00000278319.5	37	c.1168C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657686	0.88154	0.0	2.33E-4	ENSG00000149054	ENST00000278319;ENST00000414517	.	.	.	4.85	0.573	0.17363	.	0.000000	0.40640	N	0.001056	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4934	4.6827	0.12743	0.3184:0.5044:0.0:0.1772	.	.	.	.	X	390	.	.	R	+	1	2	ZNF215	6933952	0.000000	0.05858	0.807000	0.32361	0.164000	0.22412	-0.174000	0.09839	0.017000	0.15025	-0.274000	0.10170	CGA		0.393	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			T	6977376	C	T	6977376	4	4	125	1	0	0	0	0	0	1	0	0	17768	644	23	2	1186	2	ZNF215	11	6977376	Nonsense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		6977376	128029140	47	8600											
OR5P2	120065	broad.mit.edu	37	chr11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgactgttgcaaagaaagccGctgaaccaagctggatggca	13	6	12	10	2	0	2	0	1	0	1	0	4	0	3	2	2	4	5	2	2	4	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:7818191G>A	ENST00000329434.2	-	1	329	c.299C>T	c.(298-300)gCg>gTg	p.A100V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483																																						uc001mfp.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(298-300)gCg>gTg		Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.							99	116	110					11																	7818191		2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818191G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.299C>T	11.37:g.7818191G>A	ENSP00000331823:p.Ala100Val						p.A100V	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	299	-			100					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.299C>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	1.595	-0.528102	0.04112	.	.	ENSG00000183303	ENST00000329434	T	0.00376	7.7	5.5	-3.17	0.05202	GPCR, rhodopsin-like superfamily (1);	0.679936	0.14063	N	0.343953	T	0.00109	0.0003	N	0.01289	-0.905	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.21690	-1.0238	10	0.41790	T	0.15	0.4364	6.3005	0.21109	0.4743:0.2502:0.2755:0.0	.	100	Q8WZ92	OR5P2_HUMAN	V	100	ENSP00000331823:A100V	ENSP00000331823:A100V	A	-	2	0	OR5P2	7774767	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.927000	0.03984	-0.349000	0.08274	0.555000	0.69702	GCG		0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		A	7818191	G	A	7818191	3	1	125	1	0	0	0	0	1	0	0	0	11178	1087	38	1	673	1	OR5P2	11	7818191	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	840815	7818191	127188325	48	8601											
OR5I1	10798	broad.mit.edu	37	chr11	55703444	55703444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgacaagacaatcaaccGcatacagatgcccctagaca	16	6	7	12	1	1	4	1	1	0	3	1	4	1	4	3	0	3	2	3	0	6	3	rs565054095		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:55703444G>A	ENST00000301532.3	-	1	432	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	145					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R145W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAATCAACCGCATACAGATG	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		19540	0		0	False		,,,				2504	0					uc010ris.2																			1	Substitution - Missense(1)	p.R145W(2)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(433-435)Cgg>Tgg		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							81	85	83					11																	55703444		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703444G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.433C>T	11.37:g.55703444G>A	ENSP00000301532:p.Arg145Trp						p.R145W	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	433	-			145					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.433C>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	4.275	0.050126	0.08243	.	.	ENSG00000167825	ENST00000301532	T	0.00130	8.69	4.94	-5.59	0.02505	GPCR, rhodopsin-like superfamily (1);	0.678027	0.13048	N	0.417906	T	0.00073	0.0002	N	0.13352	0.335	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11792	-1.0573	10	0.36615	T	0.2	.	8.6427	0.33987	0.3803:0.1249:0.4947:0.0	.	145	Q13606	OR5I1_HUMAN	W	145	ENSP00000301532:R145W	ENSP00000301532:R145W	R	-	1	2	OR5I1	55460020	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.454000	0.00065	-1.036000	0.03287	-1.239000	0.01543	CGG		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		A	55703444	G	A	55703444	3	1	125	1	0	0	0	0	1	0	0	0	11164	1086	38	1	514	1	OR5I1	11	55703444	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	47885253	55703444	79303072	49	8602											
FGD4	121512	broad.mit.edu	37	chr12	32763711	32763711	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttttcccatttagaAtcacttgaaattatatctac	11	20	2	8	0	3	2	1	1	2	1	4	2	4	2	1	0	1	0	1	0	6	10			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:32763711A>G	ENST00000427716.2	+	9	1558	c.1134A>G	c.(1132-1134)aaA>aaG	p.K378K	FGD4_ENST00000266482.3_Splice_Site_p.K130K|FGD4_ENST00000381025.3_Splice_Site_p.K130K|FGD4_ENST00000534526.2_Splice_Site_p.K515K|FGD4_ENST00000531134.1_Splice_Site_p.K463K|FGD4_ENST00000525053.1_Splice_Site_p.K490K|FGD4_ENST00000546442.1_Splice_Site_p.K285K	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	378	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CCCATTTAGAATCACTTGAAA	0.343																																						uc010ske.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.e9-1		Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.							59	62	61					12																	32763711		2203	4297	6500	SO:0001630	splice_region_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32763711A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1133-1A>G	12.37:g.32763711A>G						FGD4_uc001rlc.3_Splice_Site_p.K463_splice|FGD4_uc001rky.3_Splice_Site_p.K130_splice|FGD4_uc001rkz.3_Splice_Site_p.K378_splice|FGD4_uc001rla.3_Splice_Site_p.K34_splice|FGD4_uc001rlb.1_Splice_Site	p.K490_splice	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			9	1553	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		378			PH 1.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1469_splice	CCDS8727.1																																																																																				0.343	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	Silent	G	32763711	A	G	32763711	5	3	125	1	0	0	0	0	0	0	1	0	5835	115	4	4	1160	4	FGD4	12	32763711	Splice_Site	SNP	A	TCGA-12-5301-01A-01D-1486-08		32763711	101088184	50	8603											
KRT75	9119	broad.mit.edu	37	chr12	52818468	52818468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtagccgctgcccccacCgaggcccaggtttccacctc	6	6	11	18	2	0	0	0	0	0	0	2	2	1	1	7	3	2	3	7	3	1	2	rs201563619		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52818468C>T	ENST00000252245.5	-	9	1709	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	497	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGCCCCCACCGAGGCCCAGG	0.622													C|||	1	0.000199681	0	0	5008	,	,		17682	0		0.001	False		,,,				2504	0					uc001saj.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1489-1491)Ggt>Agt		Homo sapiens keratin 75 (KRT75), mRNA.							61	66	65					12																	52818468		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52818468C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1489G>A	12.37:g.52818468C>T	ENSP00000252245:p.Gly497Ser						p.G497S	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	8	1511	-			497			Tail.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1489G>A	CCDS8827.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.283	-0.985390	0.02180	.	.	ENSG00000170454	ENST00000252245	D	0.86865	-2.18	4.88	-3.48	0.04739	.	0.860418	0.09901	N	0.741082	T	0.77405	0.4125	L	0.58101	1.795	0.09310	N	1	B	0.19200	0.034	B	0.06405	0.002	T	0.61734	-0.7002	10	0.02654	T	1	.	5.8159	0.18492	0.1348:0.3326:0.0:0.5326	.	497	O95678	K2C75_HUMAN	S	497	ENSP00000252245:G497S	ENSP00000252245:G497S	G	-	1	0	KRT75	51104735	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.026000	0.03596	-1.041000	0.03266	0.591000	0.81541	GGT		0.622	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		T	52818468	C	T	52818468	3	4	125	1	0	0	0	0	1	0	0	0	8488	652	23	2	170	2	KRT75	12	52818468	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	20054757	52818468	81033427	51	8604											
KRT6B	3854	broad.mit.edu	37	chr12	52841572	52841572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttacccacctgcactcctCgccctccagcagcttgcggt	6	9	8	18	2	0	0	0	0	0	0	3	0	2	0	5	1	5	4	5	1	1	2	rs60627726		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52841572C>T	ENST00000252252.3	-	7	1461	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	472	Coil 2.|Rod.		E -> K (in PC4; dbSNP:rs60627726). {ECO:0000269|PubMed:9618173}.		ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCACTCCTCGCCCTCCAGC	0.597																																						uc001sak.3																			0		p.G471G(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40	GRCh37	CM981147	KRT6B	M	rs60627726	c.(1414-1416)Gag>Aag		Homo sapiens keratin 6B (KRT6B), mRNA.							107	98	101					12																	52841572		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841572C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1414G>A	12.37:g.52841572C>T	ENSP00000252252:p.Glu472Lys						p.E472K	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	6	1462	-			472		E -> K (in PC2; dbSNP:rs60627726).	Coil 2.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1414G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043447	0.55003	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.93366	-3.21	2.75	0.877	0.19145	Filament (1);	0.000000	0.64402	D	0.000014	D	0.96700	0.8923	H	0.94423	3.535	0.40352	A	0.97914	D	0.76494	0.999	D	0.67900	0.954	D	0.96764	0.9563	9	0.87932	D	0	.	8.9635	0.35863	0.0:0.8064:0.0:0.1936	rs60627726	472	P04259	K2C6B_HUMAN	K	472;432	ENSP00000252252:E472K	ENSP00000252252:E472K	E	-	1	0	KRT6B	51127839	1.000000	0.71417	0.969000	0.41365	0.365000	0.29674	4.517000	0.60503	0.238000	0.21222	0.305000	0.20034	GAG		0.597	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		T	52841572	C	T	52841572	3	4	125	1	0	0	0	0	1	0	0	0	8481	893	31	2	292	2	KRT6B	12	52841572	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	23104	52841572	81010323	52	8605											
ANO4	121601	broad.mit.edu	37	chr12	101295584	101295584	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggcaagctcttctggAatcactaatggaaaaaccaa	16	8	9	8	0	3	0	1	0	2	0	3	3	3	3	1	4	2	2	1	4	6	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:101295584A>G	ENST00000392977.3	+	2	231	c.21A>G	c.(19-21)ggA>ggG	p.G7G	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Silent_p.G7G|ANO4_ENST00000538618.1_Silent_p.G173G			Q32M45	ANO4_HUMAN	anoctamin 4	7					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTCTTCTGGAATCACTAATG	0.522										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(19-21)ggA>ggG		Homo sapiens anoctamin 4 (ANO4), mRNA.							105	102	103					12																	101295584		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295584A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.21A>G	12.37:g.101295584A>G		HNSCC(74;0.22)				ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	p.G7G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			1	593	+			7					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.21A>G																																																																																					0.522	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		G	101295584	A	G	101295584	2	3	125	1	0	0	0	0	0	0	0	1	699	233	9	4		4	ANO4	12	101295584	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	48454012	101295584	32556311	53	8606											
ACACB	32	broad.mit.edu	37	chr12	109629703	109629703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgcggggccttgaacgtgGccgatgcgatgttcagaacg	8	9	15	9	5	1	2	1	1	0	1	1	4	1	2	2	3	4	1	2	3	3	3	rs539307430		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:109629703G>A	ENST00000338432.7	+	15	2466	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ACACB_ENST00000377854.5_Missense_Mutation_p.A783T|ACACB_ENST00000377848.3_Missense_Mutation_p.A783T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	783					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTTGAACGTGGCCGATGCGAT	0.532																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2347-2349)Gcc>Acc		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						140	117	125					12																	109629703		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629703G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2347G>A	12.37:g.109629703G>A	ENSP00000341044:p.Ala783Thr					ACACB_uc001toc.3_Missense_Mutation_p.A783T	p.A783T	NM_001093	NP_001084	O00763	ACACB_HUMAN			14	2466	+			783					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2347G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826182	0.96996	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96491	-4.03;-4.03;-3.96	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.80422	2.495	0.80722	D	1	P	0.35307	0.494	B	0.34138	0.176	D	0.96334	0.9246	10	0.87932	D	0	.	18.0366	0.89305	0.0:0.0:1.0:0.0	.	783	O00763	ACACB_HUMAN	T	783	ENSP00000341044:A783T;ENSP00000367079:A783T;ENSP00000367085:A783T	ENSP00000341044:A783T	A	+	1	0	ACACB	108114086	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.868000	0.99621	2.501000	0.84356	0.585000	0.79938	GCC		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109629703	G	A	109629703	3	1	125	1	0	0	0	0	1	0	0	0	107	1203	42	3	2401	3	ACACB	12	109629703	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	8334119	109629703	24222192	54	8607											
VPS33A	65082	broad.mit.edu	37	chr12	122734578	122734578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctcttcatcctgatcatCatattggccacttgctggaa	8	15	6	12	0	5	1	3	1	2	0	7	2	6	2	2	2	1	1	2	2	2	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:122734578C>G	ENST00000267199.4	-	6	727	c.615G>C	c.(613-615)atG>atC	p.M205I	VPS33A_ENST00000542310.1_5'Flank|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.M166I	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	205					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCTGATCATCATATTGGCCA	0.383																																						uc001ucd.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(613-615)atG>atC		Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.							89	79	82					12																	122734578		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122734578C>G	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.615G>C	12.37:g.122734578C>G	ENSP00000267199:p.Met205Ile					VPS33A_uc001ucc.3_Non-coding_Transcript	p.M205I	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	5	728	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		205					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.615G>C	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844087	0.71488	.	.	ENSG00000139719	ENST00000267199;ENST00000536212	T;T	0.76578	-1.03;-1.03	5.37	5.37	0.77165	.	0.118379	0.85682	D	0.000000	T	0.73606	0.3608	L	0.43646	1.37	0.80722	D	1	B	0.32862	0.387	B	0.35039	0.194	T	0.70178	-0.4943	10	0.27082	T	0.32	-43.0151	19.0986	0.93265	0.0:1.0:0.0:0.0	.	205	Q96AX1	VP33A_HUMAN	I	205;10	ENSP00000267199:M205I;ENSP00000439255:M10I	ENSP00000446319:M166I	M	-	3	0	VPS33A	121300531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.524000	0.85096	0.655000	0.94253	ATG		0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			G	122734578	C	G	122734578	3	3	125	1	0	0	0	0	1	0	0	0	17198	826	29	5	1207	5	VPS33A	12	122734578	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	13104875	122734578	11117317	55	8608											
PARP4	143	broad.mit.edu	37	chr13	25052379	25052379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggagtctggtgccaTctgtctctcccgggtgtgag	5	11	15	10	1	3	2	0	2	3	0	5	3	4	3	2	3	2	1	2	3	0	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:25052379T>C	ENST00000381989.3	-	13	1589	c.1484A>G	c.(1483-1485)gAt>gGt	p.D495G		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	495	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGGTGCCATCTGTCTCTCC	0.438																																						uc001upl.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1483-1485)gAt>gGt		Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.							117	93	101					13																	25052379		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25052379T>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1484A>G	13.37:g.25052379T>C	ENSP00000371419:p.Asp495Gly					PARP4_uc010tdc.2_Missense_Mutation_p.D495G	p.D495G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	12	1590	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	495			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1484A>G	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956263	0.73902	.	.	ENSG00000102699	ENST00000381989	T	0.14391	2.51	3.91	3.91	0.45181	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.131107	0.49916	D	0.000126	T	0.25754	0.0627	L	0.60012	1.86	0.44937	D	0.997951	D	0.55385	0.971	P	0.56865	0.808	T	0.01262	-1.1402	10	0.62326	D	0.03	-12.1268	10.7988	0.46476	0.0:0.0:0.0:1.0	.	495	Q9UKK3	PARP4_HUMAN	G	495	ENSP00000371419:D495G	ENSP00000371419:D495G	D	-	2	0	PARP4	23950379	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	4.978000	0.63799	1.652000	0.50683	0.524000	0.50904	GAT		0.438	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		C	25052379	T	C	25052379	3	2	125	1	0	0	0	0	1	0	0	0	11463	1435	50	4	3778	4	PARP4	13	25052379	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08		25052379	90117499	56	8609											
NBEA	26960	broad.mit.edu	37	chr13	36124652	36124652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcacggaaaatggatGttcagcgagatacgagctgt	12	9	13	7	3	2	1	2	0	0	1	2	6	2	4	0	3	3	2	0	3	3	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:36124652G>A	ENST00000400445.3	+	42	7158	c.6624G>A	c.(6622-6624)atG>atA	p.M2208I	NBEA_ENST00000537702.1_Start_Codon_SNP_p.M1I|NBEA_ENST00000540320.1_Missense_Mutation_p.M2208I|NBEA_ENST00000379939.2_Missense_Mutation_p.M2205I|NBEA_ENST00000310336.4_Missense_Mutation_p.M2208I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2208					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAAATGGATGTTCAGCGAGA	0.363																																						uc021rid.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(6622-6624)atG>atA		Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.							105	98	100					13																	36124652		1848	4105	5953	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36124652G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6624G>A	13.37:g.36124652G>A	ENSP00000383295:p.Met2208Ile					NBEA_uc021ric.1_Missense_Mutation_p.M2205I|NBEA_uc010abi.3_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	p.M2208I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	41	7158	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2208					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6624G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228265	0.79576	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.52754	0.8;0.8;0.8;0.8;0.65	5.88	5.88	0.94601	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.29908	0.895	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.0	T	0.12837	-1.0532	10	0.22109	T	0.4	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	2208;2205	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	2208;2208;2205;2208;835;1;1	ENSP00000440951:M2208I;ENSP00000383295:M2208I;ENSP00000369271:M2205I;ENSP00000308534:M2208I;ENSP00000440233:M1I	ENSP00000308534:M2208I	M	+	3	0	NBEA	35022652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.778000	0.95560	0.655000	0.94253	ATG		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	36124652	G	A	36124652	3	1	125	1	0	0	0	0	1	0	0	0	10187	1377	48	3	6790	3	NBEA	13	36124652	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	11072273	36124652	79045226	57	8610											
SLITRK1	114798	broad.mit.edu	37	chr13	84455093	84455093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcctgttaccccggaGgtcgaggtgggtgatgggca	6	10	16	9	2	1	1	1	1	0	0	2	3	1	2	3	5	2	2	3	5	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:84455093G>C	ENST00000377084.2	-	1	1435	c.550C>G	c.(550-552)Ctc>Gtc	p.L184V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	184					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532																																						uc001vlk.3																			0		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(550-552)Ctc>Gtc		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							88	88	88					13																	84455093		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455093G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.550C>G	13.37:g.84455093G>C	ENSP00000366288:p.Leu184Val						p.L184V	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1436	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	184					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.550C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093478	0.56075	.	.	ENSG00000178235	ENST00000377084	T	0.74842	-0.88	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	D	0.86628	0.5978	M	0.83118	2.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.88871	0.3333	10	0.72032	D	0.01	-9.7956	15.8282	0.78730	0.0:0.0:1.0:0.0	.	184	Q96PX8	SLIK1_HUMAN	V	184	ENSP00000366288:L184V	ENSP00000366288:L184V	L	-	1	0	SLITRK1	83353094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.714000	0.84703	2.310000	0.77875	0.561000	0.74099	CTC		0.532	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		C	84455093	G	C	84455093	3	2	125	1	0	0	0	0	1	0	0	0	14742	1000	35	5	1544	5	SLITRK1	13	84455093	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	48330441	84455093	30714785	58	8611											
NALCN	259232	broad.mit.edu	37	chr13	101707744	101707744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcaggaagccgcgtcaGtcatggggttcattttgcac	9	9	12	11	3	3	0	3	0	0	0	3	1	3	1	2	3	3	3	2	3	2	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:101707744G>A	ENST00000251127.6	-	44	5201	c.5120C>T	c.(5119-5121)aCt>aTt	p.T1707I	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1707					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCGCGTCAGTCATGGGGTT	0.507																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(5119-5121)aCt>aTt		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							195	179	184					13																	101707744		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101707744G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.5120C>T	13.37:g.101707744G>A	ENSP00000251127:p.Thr1707Ile						p.T1707I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			43	5309	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1707					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.5120C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343444	0.61073	.	.	ENSG00000102452	ENST00000251127	D	0.97642	-4.47	5.42	5.42	0.78866	.	0.216274	0.47852	D	0.000215	D	0.92485	0.7614	N	0.08118	0	0.80722	D	1	B	0.19583	0.037	B	0.18263	0.021	D	0.88158	0.2855	10	0.33940	T	0.23	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	1707	Q8IZF0	NALCN_HUMAN	I	1707	ENSP00000251127:T1707I	ENSP00000251127:T1707I	T	-	2	0	NALCN	100505745	1.000000	0.71417	0.942000	0.38095	0.979000	0.70002	4.825000	0.62708	2.545000	0.85829	0.655000	0.94253	ACT		0.507	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101707744	G	A	101707744	3	1	125	1	0	0	0	0	1	0	0	0	10148	1029	36	3	100	3	NALCN	13	101707744	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	17252651	101707744	13462134	59	8612											
OR4M1	441670	broad.mit.edu	37	chr14	20248846	20248846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgatggcctatgaccGctatgctgctatctgccgac	8	10	10	13	2	1	2	0	2	1	0	1	3	1	2	3	1	3	3	3	1	3	3	rs143164519	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:20248846G>A	ENST00000315957.4	+	1	446	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGCTATGCTGCT	0.502													.|||	5	0.000998403	0	0	5008	,	,		28206	0.001		0	False		,,,				2504	0.0041					uc010tku.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							239	250	246					14																	20248846		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248846G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.365G>A	14.37:g.20248846G>A	ENSP00000319654:p.Arg122His						p.R122H	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	365	+	all_cancers(95;0.00108)		122					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.365G>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	16.67	3.187700	0.57909	.	.	ENSG00000176299	ENST00000315957	T	0.77489	-1.1	4.33	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.77651	0.4162	M	0.89353	3.025	0.33808	D	0.627452	P	0.51537	0.946	B	0.38842	0.283	D	0.85754	0.1345	10	0.87932	D	0	-4.3778	10.0424	0.42166	0.1:0.0:0.9:0.0	.	122	Q8NGD0	OR4M1_HUMAN	H	122	ENSP00000319654:R122H	ENSP00000319654:R122H	R	+	2	0	OR4M1	19318686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.098000	0.71458	1.178000	0.42870	0.506000	0.49869	CGC		0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			A	20248846	G	A	20248846	3	1	125	1	0	0	0	0	1	0	0	0	11075	1087	38	1	367	1	OR4M1	14	20248846	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		20248846	87100694	60	8613											
SUPT16H	11198	broad.mit.edu	37	chr14	21826560	21826560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttttaaaggctgttttCagtttgtgcctcatttctcg	8	19	7	7	1	3	0	2	0	1	0	4	0	3	0	1	1	1	3	1	1	3	7			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:21826560C>T	ENST00000216297.2	-	20	2666	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	776					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTGTTTTCAGTTTGTGCC	0.378																																						uc001wao.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2326-2328)ctG>ctA		Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.							55	51	52					14																	21826560		2202	4300	6502	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21826560C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2328G>A	14.37:g.21826560C>T						SUPT16H_uc001wan.2_Splice_Site	p.L776L	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	19	2667	-	all_cancers(95;0.00115)		776					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.2328G>A	CCDS9569.1																																																																																				0.378	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			T	21826560	C	T	21826560	2	4	125	1	0	0	0	0	0	0	0	1	15393	813	29	3		3	SUPT16H	14	21826560	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	1577714	21826560	85522980	61	8614											
CTSG	1511	broad.mit.edu	37	chr14	25044566	25044566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactctggatctgaagataCgccatgtaggggcgggagtg	9	8	17	7	2	2	2	0	1	2	1	2	5	2	5	1	5	1	1	1	5	3	2	rs377162733		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:25044566C>T	ENST00000216336.2	-	2	144	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCTGAAGATACGCCATGTAGG	0.572																																						uc001wpq.3																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(106-108)gcG>gcA		Homo sapiens cathepsin G (CTSG), mRNA.							122	120	121					14																	25044566		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25044566C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.108G>A	14.37:g.25044566C>T							p.A36A	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	1	145	-			36			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.108G>A	CCDS9631.1																																																																																				0.572	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		T	25044566	C	T	25044566	2	4	125	1	0	0	0	0	0	0	0	1	4035	523	19	1		1	CTSG	14	25044566	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3218006	25044566	82304974	62	8615											
ANPEP	290	broad.mit.edu	37	chr15	90348339	90348339	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgcctgcttctccacGtagtcgaactcactgacaat	9	12	8	12	2	2	1	1	1	1	0	4	3	2	2	2	1	3	2	2	1	3	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr15:90348339G>C	ENST00000300060.6	-	4	1180	c.867C>G	c.(865-867)taC>taG	p.Y289*	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCTTCTCCACGTAGTCGAACT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(865-867)taC>taG		Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	Ezetimibe(DB00973)						260	216	231					15																	90348339		2200	4299	6499	SO:0001587	stop_gained	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348339G>C	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.867C>G	15.37:g.90348339G>C	ENSP00000300060:p.Tyr289*						p.Y289*	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		3	1159	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		289			Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Nonsense_Mutation	SNP	ENST00000300060.6	37	c.867C>G	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611742	0.96637	.	.	ENSG00000166825	ENST00000300060	.	.	.	5.08	-3.92	0.04155	.	2.191610	0.01480	N	0.016630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3283	0.11051	0.2728:0.0:0.2395:0.4876	.	.	.	.	X	289	.	ENSP00000300060:Y289X	Y	-	3	2	ANPEP	88149343	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.904000	0.01593	-0.242000	0.09667	0.462000	0.41574	TAC		0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90348339	G	C	90348339	4	2	125	1	0	0	0	0	0	1	0	0	710	1140	40	5	2108	5	ANPEP	15	90348339	Nonsense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		90348339	12183053	63	8616											
TPSD1	23430	broad.mit.edu	37	chr16	1306608	1306608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcctgagagtccgCggcccatactggatgcactt	8	8	13	12	2	0	2	0	2	0	1	1	4	1	3	3	3	3	1	3	3	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:1306608C>T	ENST00000211076.3	+	2	322	c.174C>T	c.(172-174)cgC>cgT	p.R58R	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.R51R	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	58	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGAGAGTCCGCGGCCCATACT	0.697																																						uc002clb.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(172-174)cgC>cgT		Homo sapiens tryptase delta 1 (TPSD1), mRNA.							59	72	67					16																	1306608		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306608C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.174C>T	16.37:g.1306608C>T						TPSD1_uc010brm.1_5'UTR	p.R58R	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			1	183	+		Hepatocellular(780;0.00369)	58			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.174C>T	CCDS10432.1																																																																																				0.697	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			T	1306608	C	T	1306608	2	4	125	1	0	0	0	0	0	0	0	1	16422	755	27	1		1	TPSD1	16	1306608	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		1306608	89048145	64	8617											
RBBP6	5930	broad.mit.edu	37	chr16	24552109	24552109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaccaatgcgcagacgaaAgaaggtaagggccgcttggt	13	6	13	9	3	1	2	1	0	0	2	1	3	1	2	2	3	1	3	2	3	4	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:24552109A>G	ENST00000319715.4	+	1	594	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RBBP6_ENST00000452655.2_Silent_p.K54K|RBBP6_ENST00000348022.2_Silent_p.K54K|RBBP6_ENST00000381039.3_Silent_p.K54K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	54	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGCAGACGAAAGAAGGTAAGG	0.517																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(160-162)aaA>aaG		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.							61	62	62					16																	24552109		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24552109A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.162A>G	16.37:g.24552109A>G						RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Silent_p.K54K|RBBP6_uc002dmi.3_Silent_p.K54K|RBBP6_uc010bxr.3_Silent_p.K54K|RBBP6_uc021tfl.1_Non-coding_Transcript	p.K54K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	0	1202	+			54			DWNN.		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.162A>G	CCDS10621.1																																																																																				0.517	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		G	24552109	A	G	24552109	2	3	125	1	0	0	0	0	0	0	0	1	13103	69	3	4		4	RBBP6	16	24552109	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	23245501	24552109	65802644	65	8618											
OR1A1	8383	broad.mit.edu	37	chr17	3119210	3119210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttgggggatgcctaaCgcagatgtatttcatgatag	9	14	11	7	1	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	3	6	rs144175148	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:3119210C>T	ENST00000304094.1	+	1	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGATGCCTAACGCAGATGTAT	0.488																																						uc010vrc.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(295-297)aCg>aTg		Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.		C	MET/THR	3,4403	8.1+/-20.4	0,3,2200	124	107	113		296	2.9	0.8	17	dbSNP_134	113	0,8600		0,0,4300	yes	missense	OR1A1	NM_014565.2	81	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	99/310	3119210	3,13003	2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119210C>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.296C>T	17.37:g.3119210C>T	ENSP00000305207:p.Thr99Met						p.T99M	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			0	296	+			99					A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.296C>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089595	0.20390	6.81E-4	0.0	ENSG00000172146	ENST00000304094	T	0.02974	4.09	4.96	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.382408	0.22795	N	0.055546	T	0.02970	0.0088	L	0.35793	1.09	0.09310	N	1	B	0.29909	0.261	B	0.27170	0.077	T	0.38693	-0.9649	10	0.72032	D	0.01	.	9.7696	0.40580	0.0:0.7794:0.1407:0.0799	.	99	Q9P1Q5	OR1A1_HUMAN	M	99	ENSP00000305207:T99M	ENSP00000305207:T99M	T	+	2	0	OR1A1	3065960	0.000000	0.05858	0.839000	0.33178	0.703000	0.40648	-0.152000	0.10159	1.311000	0.45024	0.436000	0.28706	ACG		0.488	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		T	3119210	C	T	3119210	3	4	125	1	0	0	0	0	1	0	0	0	10949	536	19	1	298	1	OR1A1	17	3119210	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		3119210	78076000	66	8619											
DNAH2	146754	broad.mit.edu	37	chr17	7679385	7679385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgagggtgaccctgcGggaccttctccggaactgcc	7	7	13	14	2	1	2	0	2	1	0	2	5	1	4	5	3	3	0	5	3	1	1	rs201053374		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:7679385G>A	ENST00000572933.1	+	31	6325	c.4865G>A	c.(4864-4866)cGg>cAg	p.R1622Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1622Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1622	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTGACCCTGCGGGACCTTCTC	0.627																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4864-4866)cGg>cAg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							84	75	78					17																	7679385		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7679385G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4865G>A	17.37:g.7679385G>A	ENSP00000458355:p.Arg1622Gln						p.R1622Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			29	4879	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1622			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4865G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640141	0.67244	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61742	0.08	5.66	5.66	0.87406	Dynein heavy chain, domain-2 (1);	0.226541	0.36034	N	0.002832	T	0.51381	0.1671	L	0.42686	1.345	0.80722	D	1	B	0.29612	0.251	B	0.32624	0.149	T	0.53236	-0.8467	10	0.59425	D	0.04	.	11.9406	0.52899	0.0803:0.0:0.9197:0.0	.	1622	Q9P225	DYH2_HUMAN	Q	1622	ENSP00000373825:R1622Q	ENSP00000353818:R1622Q	R	+	2	0	DNAH2	7620110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.920000	0.56446	2.666000	0.90696	0.655000	0.94253	CGG		0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7679385	G	A	7679385	3	1	125	1	0	0	0	0	1	0	0	0	4602	1116	39	2	4983	2	DNAH2	17	7679385	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	4560175	7679385	73515825	67	8620											
MYO15A	51168	broad.mit.edu	37	chr17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaccatgcagaagccGtgagcatcttcaagctggta	11	7	11	12	2	2	2	1	1	1	1	2	3	2	2	3	1	5	5	3	1	3	2	rs369781492		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:18047889G>A	ENST00000205890.5	+	29	6594	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2086	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6256-6258)Gtg>Atg		Homo sapiens myosin XVA (MYO15A), mRNA.		G	MET/VAL	0,4072		0,0,2036	81	93	89		6256	-3.5	0	17		89	2,8388		0,2,4193	no	missense	MYO15A	NM_016239.3	21	0,2,6229	AA,AG,GG		0.0238,0.0,0.016	possibly-damaging	2086/3531	18047889	2,12460	2036	4195	6231	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18047889G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6256G>A	17.37:g.18047889G>A	ENSP00000205890:p.Val2086Met					MYO15A_uc021trl.1_Missense_Mutation_p.V2084M	p.V2086M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			27	6475	+	all_neural(463;0.228)		2086			MyTH4 1.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6256G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269499	0.23221	0.0	2.38E-4	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	5.47	-3.5	0.04710	MyTH4 domain (2);	.	.	.	.	D	0.83431	0.5253	M	0.76838	2.35	0.40525	D	0.980877	P	0.36144	0.539	B	0.21917	0.037	T	0.77760	-0.2467	9	0.66056	D	0.02	.	8.2448	0.31682	0.3627:0.4817:0.1556:0.0	.	2086	Q9UKN7	MYO15_HUMAN	M	2086	ENSP00000205890:V2086M	ENSP00000205890:V2086M	V	+	1	0	MYO15A	17988614	0.000000	0.05858	0.009000	0.14445	0.415000	0.31203	-0.412000	0.07132	-0.013000	0.14199	0.655000	0.94253	GTG		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18047889	G	A	18047889	3	1	125	1	0	0	0	0	1	0	0	0	10063	1145	40	1	6362	1	MYO15A	17	18047889	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	10368504	18047889	63147321	68	8621											
GPR179	440435	broad.mit.edu	37	chr17	36484987	36484987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagactcagcatttcctgccCcatcacgttatcatccagct	9	11	5	16	1	3	1	3	0	0	1	5	1	5	1	4	0	3	3	4	0	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:36484987C>T	ENST00000342292.4	-	11	4485	c.4465G>A	c.(4465-4467)Ggg>Agg	p.G1489R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1489					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCCTGCCCCATCACGTTA	0.512																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4465-4467)Ggg>Agg		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							136	138	137					17																	36484987		2008	4183	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484987C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4465G>A	17.37:g.36484987C>T	ENSP00000345060:p.Gly1489Arg						p.G1489R	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			10	4486	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1489						Missense_Mutation	SNP	ENST00000342292.4	37	c.4465G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631571	0.67015	.	.	ENSG00000188888	ENST00000342292	T	0.69806	-0.43	4.54	3.57	0.40892	.	0.270113	0.26609	N	0.023432	T	0.61362	0.2341	M	0.65975	2.015	0.09310	N	1	B	0.24882	0.113	B	0.25506	0.061	T	0.55464	-0.8137	10	0.44086	T	0.13	-11.6599	8.3061	0.32042	0.0:0.8921:0.0:0.1079	.	1489	Q6PRD1	GP179_HUMAN	R	1489	ENSP00000345060:G1489R	ENSP00000345060:G1489R	G	-	1	0	GPR179	33738513	0.088000	0.21588	0.003000	0.11579	0.305000	0.27757	2.530000	0.45641	1.125000	0.41998	0.462000	0.41574	GGG		0.512	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36484987	C	T	36484987	3	4	125	1	0	0	0	0	1	0	0	0	6674	623	22	3	2642	3	GPR179	17	36484987	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	18437098	36484987	44710223	69	8622											
PGAP3	93210	broad.mit.edu	37	chr17	37844120	37844120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagattggctggcgggagcGgaagtgattcagagcgcccc	8	7	17	9	3	1	3	1	1	0	2	1	5	1	5	2	4	2	2	2	4	2	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:37844120G>A	ENST00000300658.4	-	1	240	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	PGAP3_ENST00000378011.4_Missense_Mutation_p.R50C|PGAP3_ENST00000429199.2_Missense_Mutation_p.R50C|PGAP3_ENST00000579146.1_Missense_Mutation_p.R50C|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000578199.1_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	50					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657																																						uc002hsj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(148-150)Cgc>Tgc		Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.							20	19	19					17																	37844120		2201	4295	6496	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37844120G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.148C>T	17.37:g.37844120G>A	ENSP00000300658:p.Arg50Cys					ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.R50C|PGAP3_uc002hsk.3_Missense_Mutation_p.R50C|PGAP3_uc010cvz.3_Missense_Mutation_p.R50C|ERBB2_uc002hsl.3_5'Flank	p.R50C	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			0	191	-			50					B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.148C>T	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	G	36	5.727891	0.96856	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000429199	.	.	.	4.81	4.81	0.61882	.	0.127459	0.56097	D	0.000039	T	0.64382	0.2593	L	0.36672	1.1	0.80722	D	1	P;D;D	0.89917	0.605;1.0;0.999	B;P;P	0.60117	0.059;0.869;0.76	T	0.64909	-0.6296	9	0.46703	T	0.11	-27.8054	16.7954	0.85600	0.0:0.0:1.0:0.0	.	50;50;50	B4DGK7;Q96FM1-2;Q96FM1	.;.;PGAP3_HUMAN	C	50	.	ENSP00000300658:R50C	R	-	1	0	PGAP3	35097646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.115000	0.57865	2.519000	0.84933	0.561000	0.74099	CGC		0.657	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		A	37844120	G	A	37844120	3	1	125	1	0	0	0	0	1	0	0	0	11779	1116	39	2	846	2	PGAP3	17	37844120	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	1359133	37844120	43351090	70	8623											
CLTC	1213	broad.mit.edu	37	chr17	57746279	57746279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaactgctacgatcctgAgcgagtcaagaattttctta	13	11	8	9	2	2	2	1	1	1	1	3	4	3	2	1	0	5	2	1	0	6	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:57746279A>G	ENST00000269122.3	+	14	2544	c.2270A>G	c.(2269-2271)gAg>gGg	p.E757G	CLTC_ENST00000393043.1_Missense_Mutation_p.E757G|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	757	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACGATCCTGAGCGAGTCAAG	0.398			T	"ALK, TFE3"	"ALCL, renal "																																	uc002ixr.1				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2281-2283)gAg>gGg		Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.							103	107	106					17																	57746279		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57746279A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2270A>G	17.37:g.57746279A>G	ENSP00000269122:p.Glu757Gly					CLTC_uc002ixp.3_Missense_Mutation_p.E757G|CLTC_uc002ixq.1_Missense_Mutation_p.E757G	p.E761G	NM_004859	NP_004850	Q00610	CLH1_HUMAN			13	2725	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		757			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2282A>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.039165	0.93630	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21543	2.0;2.0	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.045168	0.85682	D	0.000000	T	0.49729	0.1574	M	0.89095	3.005	0.80722	D	1	P;P	0.39665	0.682;0.587	P;P	0.54174	0.598;0.744	T	0.56523	-0.7965	10	0.87932	D	0	.	15.7534	0.78005	1.0:0.0:0.0:0.0	.	757;757	Q00610;Q00610-2	CLH1_HUMAN;.	G	757	ENSP00000269122:E757G;ENSP00000376763:E757G	ENSP00000269122:E757G	E	+	2	0	CLTC	55101061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.184000	0.69523	0.383000	0.25322	GAG		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		G	57746279	A	G	57746279	3	3	125	1	0	0	0	0	1	0	0	0	3566	304	11	4	2324	4	CLTC	17	57746279	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	19902159	57746279	23448931	71	8624											
GAA	2548	broad.mit.edu	37	chr17	78082609	78082609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctgcaccagggcggccgGcgctacatgatgatcgtggt	7	7	16	11	4	0	2	0	2	0	0	1	3	0	2	2	4	3	3	2	4	1	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:78082609G>T	ENST00000302262.3	+	8	1527	c.1308G>T	c.(1306-1308)cgG>cgT	p.R436R	GAA_ENST00000390015.3_Silent_p.R436R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	436					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	AGGGCGGCCGGCGCTACATGA	0.642																																						uc002jxp.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1306-1308)cgG>cgT		Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	Acarbose(DB00284)						20	18	19					17																	78082609		2193	4295	6488	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78082609G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1308G>T	17.37:g.78082609G>T						GAA_uc002jxo.3_Silent_p.R436R|GAA_uc002jxq.3_Silent_p.R436R	p.R436R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		7	1675	+	all_neural(118;0.117)		436					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1308G>T	CCDS32760.1																																																																																				0.642	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78082609	G	T	78082609	2	4	125	1	0	0	0	0	0	0	0	1	6147	1190	42	5		5	GAA	17	78082609	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	20336330	78082609	3112601	72	8625											
CEP76	79959	broad.mit.edu	37	chr18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatggaacaggtttagaacGaaaacgttggtttcgataat	15	11	10	5	3	0	1	0	0	0	1	1	4	0	2	0	3	3	3	0	3	6	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:12699056G>A	ENST00000262127.2	-	4	667	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373																																						uc002kri.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(442-444)Cgt>Tgt		Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.							90	83	86					18																	12699056		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699056G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.442C>T	18.37:g.12699056G>A	ENSP00000262127:p.Arg148Cys					PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	p.R148C	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			3	598	-			148					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.442C>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089872	0.55968	.	.	ENSG00000101624	ENST00000262127	T	0.80304	-1.36	5.83	5.83	0.93111	.	0.045898	0.85682	D	0.000000	D	0.85301	0.5665	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	P	0.53649	0.731	D	0.84388	0.0553	10	0.45353	T	0.12	-1.9037	20.1338	0.98010	0.0:0.0:1.0:0.0	.	148	Q8TAP6	CEP76_HUMAN	C	148	ENSP00000262127:R148C	ENSP00000262127:R148C	R	-	1	0	CEP76	12689056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.935000	0.87658	2.770000	0.95276	0.655000	0.94253	CGT		0.373	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		A	12699056	G	A	12699056	3	1	125	1	0	0	0	0	1	0	0	0	3261	1058	37	2	1573	2	CEP76	18	12699056	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		12699056	65378192	73	8626											
MC5R	4161	broad.mit.edu	37	chr18	13826367	13826367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctatgctgttcctcctGgtgtctctgtacatacacat	6	16	7	12	1	1	0	0	0	1	0	5	0	3	0	2	1	3	4	2	1	3	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:13826367G>T	ENST00000324750.3	+	1	825	c.603G>T	c.(601-603)ctG>ctT	p.L201L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	201					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587																																						uc010xaf.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(601-603)ctG>ctT		Homo sapiens melanocortin 5 receptor (MC5R), mRNA.							555	463	494					18																	13826367		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826367G>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.603G>T	18.37:g.13826367G>T							p.L201L	NM_005913	NP_005904	P33032	MC5R_HUMAN			0	825	+			201					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.603G>T	CCDS11868.1																																																																																				0.587	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826367	G	T	13826367	2	4	125	1	0	0	0	0	0	0	0	1	9367	1335	47	5		5	MC5R	18	13826367	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	1127311	13826367	64250881	74	8627											
POTEC	388468	broad.mit.edu	37	chr18	14542740	14542740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccagatcttctcgacGgacgtggtacctcggctcca	6	11	10	14	4	2	1	0	0	2	1	6	3	4	2	3	3	1	2	3	3	1	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:14542740G>A	ENST00000358970.5	-	1	405	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTTCTCGACGGACGTGGTAC	0.602																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(406-408)Cgt>Tgt		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							30	45	40					18																	14542740		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542740G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.406C>T	18.37:g.14542740G>A	ENSP00000351856:p.Arg136Cys					POTEC_uc010xaj.2_Non-coding_Transcript	p.R136C	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			0	860	-			136						Missense_Mutation	SNP	ENST00000358970.5	37	c.406C>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	5.962	0.361500	0.11296	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.53423	0.62	1.03	0.109	0.14578	.	.	.	.	.	T	0.33177	0.0854	L	0.43152	1.355	0.09310	N	1	B	0.24768	0.111	B	0.13407	0.009	T	0.23833	-1.0177	9	0.48119	T	0.1	.	3.591	0.07989	0.279:0.0:0.721:0.0	.	136	B2RU33	POTEC_HUMAN	C	136	ENSP00000351856:R136C	ENSP00000351856:R136C	R	-	1	0	POTEC	14532740	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	0.206000	0.17375	0.005000	0.14708	-1.101000	0.02118	CGT		0.602	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		A	14542740	G	A	14542740	3	1	125	1	0	0	0	0	1	0	0	0	12262	1116	39	2	1266	2	POTEC	18	14542740	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	716373	14542740	63534508	75	8628											
ATP8B1	5205	broad.mit.edu	37	chr18	55328473	55328473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggctttcttgtacctcttCaccaggtccaccaccatggc	7	12	7	15	0	3	0	1	0	2	0	4	0	4	0	5	3	1	2	5	3	1	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:55328473C>T	ENST00000283684.4	-	21	2639	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.V880V|RP11-35G9.3_ENST00000591854.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	880					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTACCTCTTCACCAGGTCCA	0.582																																						uc002lgw.3																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(2638-2640)gtG>gtA		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.							98	83	88					18																	55328473		2203	4300	6503	SO:0001819	synonymous_variant	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55328473C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2640G>A	18.37:g.55328473C>T						LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	p.V880V	NM_005603	NP_005594	O43520	AT8B1_HUMAN			21	2760	-		Colorectal(73;0.229)	880					Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.2640G>A	CCDS11965.1																																																																																				0.582	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		T	55328473	C	T	55328473	2	4	125	1	0	0	0	0	0	0	0	1	1194	813	29	3		3	ATP8B1	18	55328473	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	40785733	55328473	22748775	76	8629											
TNFSF9	8744	broad.mit.edu	37	chr19	6535064	6535064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccggactcccttcacCgaggtcggaataacgtccag	9	6	10	16	4	1	0	1	0	0	0	4	3	3	2	5	3	2	0	5	3	2	2	rs184642529	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:6535064C>T	ENST00000245817.3	+	3	790	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	251					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCCCTTCACCGAGGTCGGAA	0.637													c|||	5	0.000998403	0	0	5008	,	,		10926	0.005		0	False		,,,				2504	0					uc002mfh.2																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(751-753)cCg>cTg		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.			LEU/PRO	0,4396		0,0,2198	16	16	16		752	-0.4	0	19		16	1,8591		0,1,4295	yes	missense	TNFSF9	NM_003811.3	98	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	251/255	6535064	1,12987	2198	4296	6494	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6535064C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.752C>T	19.37:g.6535064C>T	ENSP00000245817:p.Pro251Leu						p.P251L	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	790	+			251					Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.752C>T	CCDS12169.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	0.033	-1.324114	0.01309	0.0	1.16E-4	ENSG00000125657	ENST00000245817	T	0.44482	0.92	3.45	-0.385	0.12470	.	0.259523	0.19393	U	0.115360	T	0.14743	0.0356	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.23119	-1.0197	10	0.02654	T	1	.	2.5791	0.04814	0.2299:0.5041:0.0:0.2661	.	251	P41273	TNFL9_HUMAN	L	251	ENSP00000245817:P251L	ENSP00000245817:P251L	P	+	2	0	TNFSF9	6486064	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.142000	0.03203	0.254000	0.21573	-0.301000	0.09380	CCG		0.637	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		T	6535064	C	T	6535064	3	4	125	1	0	0	0	0	1	0	0	0	16309	652	23	2	762	2	TNFSF9	19	6535064	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		6535064	52593919	77	8630											
MUC16	94025	broad.mit.edu	37	chr19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggtaccctgtgatgtcGccctatgaggacctgtttgg	7	12	13	9	1	0	2	0	2	0	0	1	3	0	3	3	3	1	2	3	3	3	4	rs201728641		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:9068085G>A	ENST00000397910.4	-	3	19564	c.19361C>T	c.(19360-19362)gCg>gTg	p.A6454V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6456	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A6454V(2)|p.A6454E(2)|p.A2087V(1)|p.A2087E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGTCGCCCTATGAGG	0.498																																						uc002mkp.3																			6	Substitution - Missense(6)	p.A6454V(3)|p.A6454E(3)|p.A2087V(1)|p.A2087E(1)	lung(3)|kidney(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19360-19362)gCg>gTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.			VAL/ALA	0,4030		0,0,2015	281	274	277		19361	-0.3	0	19		277	7,8361		0,7,4177	yes	missense	MUC16	NM_024690.2	64	0,7,6192	AA,AG,GG		0.0837,0.0,0.0565	probably-damaging	6454/14508	9068085	7,12391	2015	4184	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068085G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19361C>T	19.37:g.9068085G>A	ENSP00000381008:p.Ala6454Val						p.A6454V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	19565	-			6456			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19361C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.353	0.433141	0.12045	0.0	8.37E-4	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.15	-0.287	0.12858	.	.	.	.	.	T	0.02267	0.0070	L	0.48642	1.525	.	.	.	P	0.39404	0.672	B	0.28638	0.092	T	0.40887	-0.9539	8	0.87932	D	0	.	2.954	0.05870	0.1898:0.2991:0.5111:0.0	.	6454	B5ME49	.	V	6454	ENSP00000381008:A6454V	ENSP00000381008:A6454V	A	-	2	0	MUC16	8929085	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.023000	0.12456	0.010000	0.14839	0.177000	0.17058	GCG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9068085	G	A	9068085	3	1	125	1	0	0	0	0	1	0	0	0	9973	1087	38	1	24490	1	MUC16	19	9068085	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	2533021	9068085	50060898	78	8631											
RFX1	5989	broad.mit.edu	37	chr19	14104590	14104591	+	Frame_Shift_Ins	INS	-	-	G																															gctggggctgggcttgtggcINSggggcctgtggcggctggga																								rs368811511		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:14104590_14104591insG	ENST00000254325.4	-	2	299_300	c.65_66insC	c.(64-66)ccgfs	p.P22fs		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	22					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			gggcttgtggcggggcctgtgg	0.653																																						uc002mxv.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(64-66)ccgfs		Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.				272,2774		21,230,1272						-5.2	0.1			15	811,6035		21,769,2633	no	frameshift	RFX1	NM_002918.4		42,999,3905	A1A1,A1R,RR		11.8463,8.9297,10.9482				1083,8809				SO:0001589	frameshift_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14104590_14104591insG		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.66dupC	19.37:g.14104594_14104594dupG	ENSP00000254325:p.Pro22fs					RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs	p.P22fs	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		1	337_338	-			22						Frame_Shift_Ins	INS	ENST00000254325.4	37	c.65_66insC	CCDS12301.1																																																																																				0.653	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		G	14104591	-	G	14104590	7	5	125	1	0	1	1	0	0	0	0	0	13262	755	27	0	2953	0	RFX1	19	14104590	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08	5036505	14104590	45024393	79	8632											
SLC25A42	284439	broad.mit.edu	37	chr19	19217127	19217127	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcactggctggaacgAcagccgcttcactgacctac	8	6	11	16	4	1	1	1	1	0	0	1	3	1	2	3	3	3	3	3	3	2	2	rs145774094		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:19217127A>C	ENST00000318596.7	+	6	581	c.430A>C	c.(430-432)Aca>Cca	p.T144P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	144					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTGGAACGACAGCCGCTTC	0.642																																						uc002nlf.2																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(430-432)Aca>Cca		Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.							57	58	58					19																	19217127		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19217127A>C		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.430A>C	19.37:g.19217127A>C	ENSP00000326693:p.Thr144Pro					SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	p.T144P	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		5	586	+			144					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.430A>C	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763524	0.89932	.	.	ENSG00000181035	ENST00000318596	T	0.79554	-1.28	4.5	4.5	0.54988	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91815	0.7410	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93515	0.6856	10	0.72032	D	0.01	-6.4339	12.6426	0.56718	1.0:0.0:0.0:0.0	.	196;144	B7Z8R5;Q86VD7	.;S2542_HUMAN	P	144	ENSP00000326693:T144P	ENSP00000326693:T144P	T	+	1	0	SLC25A42	19078127	1.000000	0.71417	0.467000	0.27180	0.865000	0.49528	8.285000	0.89914	1.672000	0.50884	0.402000	0.26972	ACA		0.642	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		C	19217127	A	C	19217127	3	2	125	1	0	0	0	0	1	0	0	0	14507	275	10	5	448	5	SLC25A42	19	19217127	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	5112537	19217127	39911856	80	8633											
MLL4	9757	broad.mit.edu	37	chr19	36219962	36219962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcactctgcctcaaatacggGgatgcagactccaaggtgag	11	7	12	11	1	2	2	1	1	1	1	3	3	3	3	2	3	3	2	2	3	3	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:36219962G>A	ENST00000222270.7	+	21	4764	c.4764G>A	c.(4762-4764)ggG>ggA	p.G1588G	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.G1588G	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1588					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCAAATACGGGGATGCAGACT	0.607																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(4762-4764)ggG>ggA		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							70	73	72					19																	36219962		2096	4215	6311	SO:0001819	synonymous_variant	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36219962G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4764G>A	19.37:g.36219962G>A		HNSCC(34;0.089)				MLL2_uc021usu.1_Silent_p.G402G	p.G1588G	NM_014727	NP_055542	O14686	MLL2_HUMAN			20	4764	+			5039					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4764G>A	CCDS46055.1																																																																																				0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		A	36219962	G	A	36219962	2	1	125	1	0	0	0	0	0	0	0	1	9623	1219	43	3		3	MLL4	19	36219962	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	17002835	36219962	22909021	81	8634											
NLRP12	91662	broad.mit.edu	37	chr19	54314124	54314124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatgaggtcttgcatGctgcattccgtggcactctg	7	12	12	10	1	2	3	0	2	2	1	3	3	3	3	1	2	3	4	1	2	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:54314124G>A	ENST00000324134.6	-	3	957	c.789C>T	c.(787-789)agC>agT	p.S263S	NLRP12_ENST00000345770.5_Silent_p.S263S|NLRP12_ENST00000535162.1_Silent_p.S263S|NLRP12_ENST00000354278.3_Silent_p.S263S|NLRP12_ENST00000391775.3_Silent_p.S263S|NLRP12_ENST00000391772.1_Silent_p.S263S|NLRP12_ENST00000391773.1_Silent_p.S263S|NLRP12_ENST00000351894.4_Silent_p.S263S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	263	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCTTGCATGCTGCATTCCG	0.567																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(787-789)agC>agT		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							54	46	49					19																	54314124		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314124G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.789C>T	19.37:g.54314124G>A						NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.S263S|NLRP12_uc002qci.4_Silent_p.S263S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.S263S	p.S263S	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	1009	-	Ovarian(34;0.19)		263			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.789C>T	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54314124	G	A	54314124	2	1	125	1	0	0	0	0	0	0	0	1	10474	1310	46	3		3	NLRP12	19	54314124	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	18094162	54314124	4814859	82	8635											
JPH2	57158	broad.mit.edu	37	chr20	42788558	42788558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttccactcgcccatgtagGtctcggtggtggtggcgtcg	3	12	14	12	4	2	0	0	0	2	0	6	0	3	0	2	5	0	1	2	5	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:42788558G>C	ENST00000372980.3	-	2	1741	c.869C>G	c.(868-870)aCc>aGc	p.T290S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	290					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCATGTAGGTCTCGGTGGT	0.701																																						uc002xli.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(868-870)aCc>aGc		Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.							56	50	52					20																	42788558		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788558G>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.869C>G	20.37:g.42788558G>C	ENSP00000362071:p.Thr290Ser						p.T290S	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1742	-		Myeloproliferative disorder(115;0.0122)	290					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.869C>G	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	6.740	0.505269	0.12822	.	.	ENSG00000149596	ENST00000372980	T	0.44482	0.92	2.98	2.0	0.26442	.	0.329105	0.30771	N	0.008907	T	0.27098	0.0664	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05402	-1.0887	10	0.36615	T	0.2	.	6.1465	0.20289	0.1063:0.1922:0.7016:0.0	.	290	Q9BR39	JPH2_HUMAN	S	290	ENSP00000362071:T290S	ENSP00000362071:T290S	T	-	2	0	JPH2	42221972	1.000000	0.71417	0.993000	0.49108	0.366000	0.29705	4.759000	0.62227	0.427000	0.26145	0.298000	0.19748	ACC		0.701	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			C	42788558	G	C	42788558	3	2	125	1	0	0	0	0	1	0	0	0	7961	1261	44	5	1237	5	JPH2	20	42788558	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		42788558	20236962	83	8636											
CDH22	64405	broad.mit.edu	37	chr20	44828064	44828064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggcgcccagctcacccGcctccatggccagcactgtg	5	6	12	18	3	1	0	1	0	0	0	2	0	2	0	5	2	2	2	5	2	0	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:44828064G>A	ENST00000372262.3	-	7	1821	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CDH22_ENST00000537909.1_Missense_Mutation_p.A474V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCTCACCCGCCTCCATGGC	0.667																																						uc002xrm.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1420-1422)gCg>gTg		Homo sapiens cadherin 22, type 2 (CDH22), mRNA.							35	30	31					20																	44828064		2202	4299	6501	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44828064G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1421C>T	20.37:g.44828064G>A	ENSP00000361336:p.Ala474Val					CDH22_uc010ghk.1_Missense_Mutation_p.A474V	p.A474V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			6	1820	-		Myeloproliferative disorder(115;0.0122)	474			Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1421C>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170365	0.38315	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.53857	0.6;0.6	4.47	3.52	0.40303	Cadherin (4);Cadherin-like (1);	0.120395	0.56097	N	0.000029	T	0.38295	0.1035	N	0.16790	0.44	0.58432	D	0.99999	P	0.51240	0.943	P	0.48770	0.589	T	0.09952	-1.0651	10	0.10377	T	0.69	.	10.262	0.43431	0.0922:0.0:0.9078:0.0	.	474	Q9UJ99	CAD22_HUMAN	V	474	ENSP00000361336:A474V;ENSP00000437790:A474V	ENSP00000361336:A474V	A	-	2	0	CDH22	44261471	1.000000	0.71417	0.989000	0.46669	0.020000	0.10135	4.175000	0.58263	1.232000	0.43678	-0.266000	0.10368	GCG		0.667	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44828064	G	A	44828064	3	1	125	1	0	0	0	0	1	0	0	0	3107	1087	38	1	1085	1	CDH22	20	44828064	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	2039506	44828064	18197456	84	8637											
USP16	10600	broad.mit.edu	37	chr21	30409731	30409731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccttgccaaataaccGtgaaaggactcagtaatttg	13	12	7	9	1	2	1	1	1	1	0	3	2	2	2	3	1	2	1	3	1	4	5	rs199586396		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr21:30409731G>A	ENST00000334352.4	+	7	814	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	USP16_ENST00000399975.3_Missense_Mutation_p.V194M|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.V195M	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCAAATAACCGTGAAAGGACT	0.348																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(583-585)Gtg>Atg		Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	119	127	124		580,583,583	5.8	1	21		124	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	USP16	NM_001001992.1,NM_001032410.1,NM_006447.2	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	194/823,195/824,195/824	30409731	1,13005	2203	4300	6503	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30409731G>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.583G>A	21.37:g.30409731G>A	ENSP00000334808:p.Val195Met					USP16_uc002ymx.3_Missense_Mutation_p.V194M|USP16_uc002ymw.3_Missense_Mutation_p.V195M|USP16_uc011acm.2_Missense_Mutation_p.V180M|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	p.V195M	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			5	785	+			195						Missense_Mutation	SNP	ENST00000334352.4	37	c.583G>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937875	0.73557	0.0	1.16E-4	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.08634	3.07;3.07;3.07	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.65677	2.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00348	-1.1799	10	0.72032	D	0.01	.	20.0627	0.97684	0.0:0.0:1.0:0.0	.	180;194;195	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	M	194;195;195	ENSP00000382857:V194M;ENSP00000382858:V195M;ENSP00000334808:V195M	ENSP00000334808:V195M	V	+	1	0	USP16	29331602	1.000000	0.71417	0.958000	0.39756	0.340000	0.28889	6.370000	0.73114	2.743000	0.94032	0.585000	0.79938	GTG		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			A	30409731	G	A	30409731	3	1	125	1	0	0	0	0	1	0	0	0	17044	1145	40	1	601	1	USP16	21	30409731	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		30409731	17720164	85	8638											
FBLN1	2192	broad.mit.edu	37	chr22	45944523	45944524	+	Frame_Shift_Ins	INS	-	-	CCAC																															tgcgccctgcccaccgggggINSccacatctgctcctaccgct																										TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:45944523_45944524insCCAC	ENST00000327858.6	+	13	1567_1568	c.1472_1473insCCAC	c.(1471-1476)ggccacfs	p.-492fs	FBLN1_ENST00000340923.5_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000442170.2_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000348697.2_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000402984.3_Frame_Shift_Ins_p.-530fs|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000262722.7_Frame_Shift_Ins_p.-492fs	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCACCGGGGGCCACATCTGCT	0.644																																						uc010gzz.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1585-1587)ggcfs		Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.																																				SO:0001589	frameshift_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45944523_45944524insCCAC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1473_1476dupCCAC	22.37:g.45944524_45944527dupCCAC	ENSP00000331544:p.His492fs					FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.3_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgj.1_Frame_Shift_Ins_p.G491fs	p.G529fs	NM_001996	NP_001987	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1733_1734	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	491			EGF-like 9; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Frame_Shift_Ins	INS	ENST00000327858.6	37	c.1586_1587insCCAC	CCDS14067.1																																																																																				0.644	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		CCAC	45944524	-	CCAC	45944523	7	5	125	1	0	1	1	0	0	0	0	0	5698	1203	42	0	1522	0	FBLN1	22	45944523	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08		45944523	5360043	86	8639											
TUBGCP6	85378	broad.mit.edu	37	chr22	50657589	50657589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagtgcgcctccaggtGcagctccacgaagaagtagt	10	8	11	12	2	1	1	1	0	0	1	3	2	3	1	3	1	3	3	3	1	4	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:50657589G>A	ENST00000248846.5	-	20	4638	c.4534C>T	c.(4534-4536)Cac>Tac	p.H1512Y	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1512					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTCCAGGTGCAGCTCCACG	0.642																																						uc003bkb.1																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(4534-4536)Cac>Tac		Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.							46	40	42					22																	50657589		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657589G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4534C>T	22.37:g.50657589G>A	ENSP00000248846:p.His1512Tyr					TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y|TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_Non-coding_Transcript	p.H1512Y	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	19	5046	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1512					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4534C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281712	0.40394	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.08458	3.09;3.09	5.02	1.58	0.23477	.	1.285730	0.05014	N	0.471567	T	0.13286	0.0322	L	0.48642	1.525	0.19300	N	0.99998	P;P;P	0.51653	0.917;0.947;0.935	P;P;B	0.47827	0.486;0.558;0.422	T	0.32161	-0.9917	10	0.59425	D	0.04	.	8.1221	0.30978	0.0801:0.0:0.412:0.5079	.	1504;1512;1512	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	Y	1512;198	ENSP00000248846:H1512Y;ENSP00000405979:H198Y	ENSP00000248846:H1512Y	H	-	1	0	TUBGCP6	48999716	0.003000	0.15002	0.618000	0.29105	0.356000	0.29392	0.855000	0.27805	0.511000	0.28236	0.491000	0.48974	CAC		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		A	50657589	G	A	50657589	3	1	125	1	0	0	0	0	1	0	0	0	16767	1319	46	3	949	3	TUBGCP6	22	50657589	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	4713066	50657589	646977	87	8640											
F9	2158	broad.mit.edu	37	chrX	138643736	138643736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaagcgaaatgtgattCgaattattcctcaccacaac	16	9	6	10	2	1	1	1	1	0	0	3	3	2	1	2	0	3	1	2	0	6	3	rs137852250		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chrX:138643736C>T	ENST00000218099.2	+	8	899	c.892C>T	c.(892-894)Cga>Tga	p.R298*	F9_ENST00000394090.2_Nonsense_Mutation_p.R260*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	298	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AAATGTGATTCGAATTATTCC	0.353																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940596	F9	M	rs137852250	c.(892-894)Cga>Tga		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						164	141	148					X																	138643736		2203	4300	6503	SO:0001587	stop_gained	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643736C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.892C>T	X.37:g.138643736C>T	ENSP00000218099:p.Arg298*					F9_uc004fat.1_Nonsense_Mutation_p.R260*	p.R298*	NM_000133	NP_000124	P00740	FA9_HUMAN			7	921	+	Acute lymphoblastic leukemia(192;0.000127)		298			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	c.892C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993725	0.74703	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.42	5.42	0.78866	.	0.387908	0.28712	N	0.014391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	10.9683	0.47424	0.3081:0.6919:0.0:0.0	.	.	.	.	X	298;260	.	ENSP00000218099:R298X	R	+	1	2	F9	138471402	0.260000	0.24053	0.725000	0.30721	0.969000	0.65631	3.874000	0.56101	2.250000	0.74265	0.544000	0.68410	CGA		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			T	138643736	C	T	138643736	4	4	125	1	0	0	0	0	0	1	0	0	5351	876	31	2	922	2	F9	23	138643736	Nonsense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		138643736	16626824	88	8641											
CYP4A11	1579	broad.mit.edu	37	chr1	47402416	47402416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctggggtcagcatccGtcgatgctggaaccatgtct	8	9	14	10	2	2	0	1	0	1	0	4	3	3	1	2	4	3	3	2	4	2	0	rs202214253		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:47402416G>A	ENST00000310638.4	-	4	461	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CYP4A11_ENST00000462347.1_Missense_Mutation_p.R144W|CYP4A11_ENST00000457840.2_Missense_Mutation_p.R40W|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R144W|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R144W	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	144					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GTCAGCATCCGTCGATGCTGG	0.527																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(430-432)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						110	84	93					1																	47402416		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47402416G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.430C>T	1.37:g.47402416G>A	ENSP00000311095:p.Arg144Trp					CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_Non-coding_Transcript	p.R144W	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			3	481	-			144					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.430C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	16.05	3.013084	0.54468	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;D	0.81996	-0.65;-0.65;-0.65;-1.56	5.32	0.695	0.18070	.	0.069104	0.56097	D	0.000036	D	0.86871	0.6037	M	0.87038	2.855	0.25948	N	0.982782	B	0.33413	0.411	B	0.42030	0.373	D	0.83359	0.0001	10	0.87932	D	0	.	14.9738	0.71254	0.0:0.0:0.491:0.509	.	144	Q02928	CP4AB_HUMAN	W	144;144;144;40	ENSP00000311095:R144W;ENSP00000360971:R144W;ENSP00000360972:R144W;ENSP00000406272:R40W	ENSP00000311095:R144W	R	-	1	2	CYP4A11	47175003	0.000000	0.05858	0.351000	0.25721	0.740000	0.42216	0.176000	0.16782	0.578000	0.29487	0.644000	0.83932	CGG		0.527	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		A	47402416	G	A	47402416	3	1	126	1	0	0	0	0	1	0	0	0	4183	1144	40	1	1165	1	CYP4A11	1	47402416	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		47402416	201848205	1	8642											
DOCK7	85440	broad.mit.edu	37	chr1	63001286	63001286	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttggtcttgtacattCgtagaaaatccagaactctg	11	15	7	8	1	3	2	0	0	3	2	5	2	4	2	1	1	2	2	1	1	5	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:63001286C>A	ENST00000340370.5	-	28	3413	c.3396G>T	c.(3394-3396)acG>acT	p.T1132T	DOCK7_ENST00000251157.5_Silent_p.T1163T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1163					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(3487-3489)acG>acT		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							91	82	85					1																	63001286		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63001286C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3396G>T	1.37:g.63001286C>A						DOCK7_uc001dan.3_Silent_p.T1024T|DOCK7_uc001dao.3_Silent_p.T1024T|DOCK7_uc001dap.3_Silent_p.T1132T|DOCK7_uc001dam.3_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR	p.T1163T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			28	3523	-			1163					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.3489G>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.691994	0.15039	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.05	-3.41	0.04839	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7086	0.45969	0.0:0.1343:0.583:0.2826	.	.	.	.	X	335	.	.	E	-	1	0	DOCK7	62773874	0.216000	0.23585	0.886000	0.34754	0.926000	0.56050	-0.517000	0.06275	-0.848000	0.04163	-1.246000	0.01523	GAA		0.398	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	63001286	C	A	63001286	2	1	126	1	0	0	0	0	0	0	0	1	4692	871	31	5		5	DOCK7	1	63001286	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	15598870	63001286	186249335	2	8643											
VTCN1	79679	broad.mit.edu	37	chr1	117699373	117699373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttcatcctgctccgacaGctcatctttgccttctttga	6	16	5	14	1	4	1	2	1	2	0	6	2	6	1	3	0	3	2	3	0	0	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:117699373G>A	ENST00000369458.3	-	3	346	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	VTCN1_ENST00000359008.4_Silent_p.L93L|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCTCCGACAGCTCATCTTTG	0.458																																						uc001ehb.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(268-270)Ctg>Ttg		Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.							126	113	118					1																	117699373		2203	4300	6503	SO:0001819	synonymous_variant	79679					integral to membrane|plasma membrane		g.chr1:117699373G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.268C>T	1.37:g.117699373G>A						VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	p.L90L	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	2	373	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	90			Ig-like V-type 1.			Silent	SNP	ENST00000369458.3	37	c.268C>T	CCDS894.1																																																																																				0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		A	117699373	G	A	117699373	2	1	126	1	0	0	0	0	0	0	0	1	17231	962	34	3		3	VTCN1	1	117699373	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	54698087	117699373	131551248	3	8644											
TXNIP	10628	broad.mit.edu	37	chr1	145440100	145440100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcctgatgggcgggtGtctgtctctgctcgaattga	5	15	12	9	2	3	2	1	2	2	0	6	3	4	2	1	2	1	1	1	2	1	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:145440100G>A	ENST00000369317.4	+	4	868	c.534G>A	c.(532-534)gtG>gtA	p.V178V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	178					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGGGCGGGTGTCTGTCTCTG	0.433																																						uc001enn.4																			0		p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(532-534)gtG>gtA		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							161	178	172					1																	145440100		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440100G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.534G>A	1.37:g.145440100G>A						TXNIP_uc010oys.2_Silent_p.V123V	p.V178V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	875	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		178					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.534G>A	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		A	145440100	G	A	145440100	2	1	126	1	0	0	0	0	0	0	0	1	16800	1364	48	3		3	TXNIP	1	145440100	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	27740727	145440100	103810521	4	8645											
NR1I3	9970	broad.mit.edu	37	chr1	161203002	161203002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatggtgcccatgtggcggGtgtgggcccccaggagtgtc	5	8	17	11	1	0	0	0	0	0	0	1	1	0	1	3	5	1	0	3	5	0	0	rs372603248		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:161203002G>A	ENST00000367982.4	-	4	520	c.365C>T	c.(364-366)aCc>aTc	p.T122I	NR1I3_ENST00000367981.3_Missense_Mutation_p.T93I|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.T122I|NR1I3_ENST00000505005.1_Missense_Mutation_p.T122I|NR1I3_ENST00000508740.1_Missense_Mutation_p.T93I|NR1I3_ENST00000412844.2_Missense_Mutation_p.T93I|NR1I3_ENST00000515452.1_Missense_Mutation_p.T122I|NR1I3_ENST00000512372.1_Missense_Mutation_p.T93I|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000428574.2_Missense_Mutation_p.T122I|NR1I3_ENST00000506209.1_Missense_Mutation_p.T93I|NR1I3_ENST00000504010.1_Missense_Mutation_p.T93I|NR1I3_ENST00000442691.2_Missense_Mutation_p.T122I|NR1I3_ENST00000437437.2_Missense_Mutation_p.T93I|NR1I3_ENST00000367980.2_Missense_Mutation_p.T122I|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.T122I|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367983.4_Missense_Mutation_p.T122I|NR1I3_ENST00000515621.1_Missense_Mutation_p.T47I|NR1I3_ENST00000511676.1_Missense_Mutation_p.T93I|NR1I3_ENST00000367984.4_Missense_Mutation_p.T122I|NR1I3_ENST00000511944.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	122					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATGTGGCGGGTGTGGGCCCC	0.557																																						uc001fzx.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(364-366)aCc>aTc		Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.							129	134	132					1																	161203002		2203	4300	6503	SO:0001583	missense	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161203002G>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.365C>T	1.37:g.161203002G>A	ENSP00000356961:p.Thr122Ile					TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.T122I|NR1I3_uc001fzm.3_Missense_Mutation_p.T47I|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.T122I|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.T122I|NR1I3_uc001fzw.3_Missense_Mutation_p.T122I|NR1I3_uc001fzz.3_Missense_Mutation_p.T122I|NR1I3_uc001fzh.3_Missense_Mutation_p.T93I|NR1I3_uc001gab.3_Missense_Mutation_p.T122I|NR1I3_uc001gac.3_Missense_Mutation_p.T93I|NR1I3_uc001fzp.3_Missense_Mutation_p.T122I|NR1I3_uc001fzg.3_Missense_Mutation_p.T93I|NR1I3_uc001gaa.3_Missense_Mutation_p.T122I|NR1I3_uc001fzj.3_Missense_Mutation_p.T93I|NR1I3_uc001fzi.3_Missense_Mutation_p.T93I|NR1I3_uc001fzl.3_Missense_Mutation_p.T93I|NR1I3_uc001fzk.3_Missense_Mutation_p.T93I|NR1I3_uc010pkm.2_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	p.T122I	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	568	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		122					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.365C>T	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752747	0.15778	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	6.03	4.17	0.49024	Nuclear hormone receptor, ligand-binding (2);	0.615526	0.17923	N	0.157429	D	0.88005	0.6321	M	0.62723	1.935	0.36120	D	0.845428	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22146	0.0;0.001;0.019;0.001;0.007;0.0;0.0;0.0;0.005;0.0;0.001;0.002;0.065;0.0;0.002;0.001;0.009;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17098	0.001;0.001;0.007;0.001;0.017;0.001;0.001;0.001;0.005;0.001;0.001;0.004;0.017;0.001;0.002;0.002;0.007;0.005	D	0.83678	0.0170	9	0.54805	T	0.06	.	9.4848	0.38922	0.0742:0.0:0.7824:0.1434	.	122;93;93;122;122;122;122;122;122;122;47;93;93;93;93;93;93;122	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	I	93;122;122;93;122;93;122;122;93;122;93;93;93;47;122;122;122;93;122	ENSP00000425417:T93I;ENSP00000356962:T122I;ENSP00000356959:T122I;ENSP00000407446:T93I;ENSP00000406493:T122I;ENSP00000399361:T93I;ENSP00000412672:T122I;ENSP00000424934:T122I;ENSP00000423666:T93I;ENSP00000356961:T122I;ENSP00000424345:T93I;ENSP00000427175:T93I;ENSP00000356960:T93I;ENSP00000421588:T47I;ENSP00000356963:T122I;ENSP00000356965:T122I;ENSP00000356958:T122I;ENSP00000423089:T93I;ENSP00000427034:T122I	ENSP00000356958:T122I	T	-	2	0	NR1I3	159469626	0.001000	0.12720	0.020000	0.16555	0.352000	0.29268	0.610000	0.24253	0.878000	0.35920	-0.136000	0.14681	ACC		0.557	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			A	161203002	G	A	161203002	3	1	126	1	0	0	0	0	1	0	0	0	10621	1261	44	3	827	3	NR1I3	1	161203002	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	15762902	161203002	88047619	5	8646											
SLC30A3	7781	broad.mit.edu	37	chr2	27481038	27481038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccttacctgaacggtGccagccaaaggtcatggtgc	9	7	14	11	1	1	1	1	1	0	0	1	1	1	1	4	5	5	0	4	5	3	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:27481038G>A	ENST00000233535.4	-	3	767	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SLC30A3_ENST00000447008.2_Missense_Mutation_p.H134Y	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	139					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACGGTGCCAGCCAAAG	0.637																																						uc002rjk.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(415-417)Cac>Tac		Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.							71	76	74					2																	27481038		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481038G>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.415C>T	2.37:g.27481038G>A	ENSP00000233535:p.His139Tyr					SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.H134Y	p.H139Y	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			2	601	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		139					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.415C>T	CCDS1743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.558403|2.558403	0.45590|0.45590	.|.	.|.	ENSG00000115194|ENSG00000115194	ENST00000445870|ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	.|T;T;T;T;T;T;T	.|0.62105	.|0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55049|0.55049	0.1896|0.1896	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	.|B;P	.|0.36683	.|0.189;0.565	.|B;B	.|0.36666	.|0.111;0.23	T|T	0.50541|0.50541	-0.8816|-0.8816	5|10	.|0.23302	.|T	.|0.38	-22.2928|-22.2928	17.5007|17.5007	0.87731|0.87731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|134;139	.|F5H3B7;Q99726	.|.;ZNT3_HUMAN	V|Y	127|139;134;90;126;117;90;90	.|ENSP00000233535:H139Y;ENSP00000415226:H134Y;ENSP00000414320:H90Y;ENSP00000393545:H126Y;ENSP00000403959:H117Y;ENSP00000403912:H90Y;ENSP00000392673:H90Y	.|ENSP00000233535:H139Y	A|H	-|-	2|1	0|0	SLC30A3|SLC30A3	27334542|27334542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.035000|8.035000	0.88872|0.88872	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.637	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			A	27481038	G	A	27481038	3	1	126	1	0	0	0	0	1	0	0	0	14556	1319	46	3	775	3	SLC30A3	2	27481038	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		27481038	215718335	6	8647											
IL1A	3552	broad.mit.edu	37	chr2	113537182	113537182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcgtatttgatgatcctCataaagttgtatttcacatt	12	18	5	6	1	2	2	2	2	0	0	4	2	3	2	1	0	0	3	1	0	5	8			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:113537182C>T	ENST00000263339.3	-	5	536	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	127					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TGATGATCCTCATAAAGTTGT	0.393																																						uc002tig.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(379-381)atG>atA		Homo sapiens interleukin 1, alpha (IL1A), mRNA.							160	127	138					2																	113537182		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113537182C>T	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.381G>A	2.37:g.113537182C>T	ENSP00000263339:p.Met127Ile						p.M127I	NM_000575	NP_000566	P01583	IL1A_HUMAN			4	1341	-			127					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.381G>A	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	C	0.780	-0.762705	0.02996	.	.	ENSG00000115008	ENST00000263339	T	0.21191	2.02	4.44	-5.23	0.02798	.	1.732990	0.02637	N	0.104892	T	0.07773	0.0195	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20672	-1.0268	10	0.13853	T	0.58	-17.9825	3.5876	0.07977	0.1054:0.3138:0.1041:0.4767	.	127	P01583	IL1A_HUMAN	I	127	ENSP00000263339:M127I	ENSP00000263339:M127I	M	-	3	0	IL1A	113253653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.374000	0.02566	-1.589000	0.01625	-2.925000	0.00089	ATG		0.393	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		T	113537182	C	T	113537182	3	4	126	1	0	0	0	0	1	0	0	0	7650	826	29	3	446	3	IL1A	2	113537182	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	86056144	113537182	129662191	7	8648											
ARMC9	80210	broad.mit.edu	37	chr2	232127073	232127073	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgttctgcaagcctacAtcagcaatgacctcttggac	11	9	8	13	1	3	2	1	1	2	1	3	3	3	3	3	1	4	3	3	1	3	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:232127073A>T	ENST00000349938.4	+	12	1275	c.1081A>T	c.(1081-1083)Atc>Ttc	p.I361F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	361						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCAAGCCTACATCAGCAATGA	0.498																																						uc002vrq.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1081-1083)Atc>Ttc		Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.							145	131	136					2																	232127073		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232127073A>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1081A>T	2.37:g.232127073A>T	ENSP00000258417:p.Ile361Phe					ARMC9_uc002vrp.4_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_Non-coding_Transcript	p.I361F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	11	1193	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	361					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1081A>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379908	0.61845	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339	T	0.21191	2.02	4.03	1.59	0.23543	.	0.104352	0.64402	D	0.000006	T	0.20047	0.0482	L	0.49350	1.555	0.58432	D	0.99999	B	0.33940	0.433	B	0.38264	0.269	T	0.02917	-1.1094	10	0.56958	D	0.05	-10.0226	7.5643	0.27870	0.811:0.0:0.189:0.0	.	361	Q7Z3E5	ARMC9_HUMAN	F	361;361;78	ENSP00000258417:I361F	ENSP00000258417:I361F	I	+	1	0	ARMC9	231835317	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.694000	0.47035	0.115000	0.18071	0.329000	0.21502	ATC		0.498	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		T	232127073	A	T	232127073	3	4	126	1	0	0	0	0	1	0	0	0	958	217	8	5	1123	5	ARMC9	2	232127073	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08	118589891	232127073	11072300	8	8649											
RAD54L2	23132	broad.mit.edu	37	chr3	51690165	51690165	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgcaggagtccttgtgCagaaggtggtcaccacgaca	10	7	14	10	2	1	1	1	0	0	1	2	3	2	2	2	3	3	2	2	3	1	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:51690165C>T	ENST00000409535.2	+	19	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q763*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1069						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTCCTTGTGCAGAAGGTGGT	0.493																																						uc011bdt.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(3205-3207)Cag>Tag		Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.							73	64	67					3																	51690165		2203	4300	6503	SO:0001587	stop_gained	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51690165C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3205C>T	3.37:g.51690165C>T	ENSP00000386520:p.Gln1069*					RAD54L2_uc003dbh.3_Nonsense_Mutation_p.Q658*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.Q763*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.Q395*	p.Q1069*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	18	3330	+			1069					Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	c.3205C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.947530|9.947530	0.99302|0.99302	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77785|.	0.4182|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78448|.	-0.2200|.	3|.	.|0.56958	.|D	.|0.05	-14.7333|-14.7333	18.7862|18.7862	0.91955|0.91955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	897|1069;763	.|.	.|ENSP00000296477:Q763X	A|Q	+|+	2|1	0|0	RAD54L2|RAD54L2	51665205|51665205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.453000|7.453000	0.80700|0.80700	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51690165	C	T	51690165	4	4	126	1	0	0	0	0	0	1	0	0	12994	711	25	3	3275	3	RAD54L2	3	51690165	Nonsense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		51690165	146332265	9	8650											
DPPA2	151871	broad.mit.edu	37	chr3	109028077	109028077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagtgtcccgacacacCttattaatgggaggcaaaat	14	8	9	10	2	0	0	0	0	0	0	1	2	1	1	2	2	0	2	2	2	5	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:109028077C>G	ENST00000478945.1	-	4	528	c.282G>C	c.(280-282)aaG>aaC	p.K94N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	94	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGACACACCTTATTAATGG	0.443																																						uc003dxo.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(280-282)aaG>aaC		Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.							174	177	176					3																	109028077		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028077C>G	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.282G>C	3.37:g.109028077C>G	ENSP00000417710:p.Lys94Asn						p.K94N	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			3	529	-			94			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.282G>C	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944792	0.18356	.	.	ENSG00000163530	ENST00000478945	T	0.46451	0.87	4.66	-9.33	0.00639	DNA-binding SAP (2);	2.007740	0.01812	N	0.033511	T	0.27241	0.0668	L	0.51422	1.61	0.09310	N	1	P	0.40144	0.704	B	0.31946	0.138	T	0.32295	-0.9912	10	0.49607	T	0.09	-0.0289	3.1357	0.06438	0.4618:0.1785:0.2602:0.0996	.	94	Q7Z7J5	DPPA2_HUMAN	N	94	ENSP00000417710:K94N	ENSP00000417710:K94N	K	-	3	2	DPPA2	110510767	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.541000	0.02198	-3.380000	0.00175	-0.397000	0.06425	AAG		0.443	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		G	109028077	C	G	109028077	3	3	126	1	0	0	0	0	1	0	0	0	4734	680	24	5	634	5	DPPA2	3	109028077	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	57337912	109028077	88994353	10	8651											
COL6A5	256076	broad.mit.edu	37	chr3	130095557	130095557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgaaggccatggccaCatcccatttccatttcaacc	12	10	5	14	0	2	1	1	1	1	0	4	1	4	1	5	2	1	0	5	2	3	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:130095557C>T	ENST00000432398.2	+	3	1039	c.545C>T	c.(544-546)aCa>aTa	p.T182I	COL6A5_ENST00000265379.6_Missense_Mutation_p.T182I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	182	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCCATGGCCACATCCCATTTC	0.473																																						uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(544-546)aCa>aTa		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.							99	90	93					3																	130095557		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095557C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.545C>T	3.37:g.130095557C>T	ENSP00000390895:p.Thr182Ile					COL6A5_uc010hti.1_Non-coding_Transcript	p.T182I	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			2	1039	+			182			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.545C>T		.	.	.	.	.	.	.	.	.	.	C	12.32	1.903450	0.33628	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79033	-1.23;-1.23	5.0	5.0	0.66597	.	.	.	.	.	D	0.88418	0.6431	M	0.80746	2.51	0.28844	N	0.896433	D	0.89917	1.0	D	0.80764	0.994	T	0.83066	-0.0145	9	0.38643	T	0.18	.	17.4382	0.87558	0.0:1.0:0.0:0.0	.	182	A8TX70-2	.	I	182	ENSP00000390895:T182I;ENSP00000265379:T182I	ENSP00000265379:T182I	T	+	2	0	COL6A5	131578247	0.964000	0.33143	0.973000	0.42090	0.448000	0.32197	2.179000	0.42528	2.483000	0.83821	0.455000	0.32223	ACA		0.473	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130095557	C	T	130095557	3	4	126	1	0	0	0	0	1	0	0	0	3702	478	17	3	551	3	COL6A5	3	130095557	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	21067480	130095557	67926873	11	8652											
PDGFRA	5156	broad.mit.edu	37	chr4	55133558	55133558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtgaaagacagtggagatTacgaatgtgctgcccgccag	11	7	14	9	3	0	3	0	1	0	2	0	5	0	3	2	2	3	1	2	2	3	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:55133558T>C	ENST00000257290.5	+	6	1193	c.862T>C	c.(862-864)Tac>Cac	p.Y288H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	288	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAGTGGAGATTACGAATGTGC	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(862-864)Tac>Cac		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						89	91	90					4																	55133558		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133558T>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.862T>C	4.37:g.55133558T>C	ENSP00000257290:p.Tyr288His	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.Y182H|PDGFRA_uc003ham.2_Non-coding_Transcript	p.Y288H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1193	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		288			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.862T>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734196	0.89482	.	.	ENSG00000134853	ENST00000257290	D	0.87491	-2.26	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29676	U	0.011488	D	0.93815	0.8022	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.94594	0.7790	10	0.87932	D	0	.	15.8998	0.79365	0.0:0.0:0.0:1.0	.	288;288	P16234-3;P16234	.;PGFRA_HUMAN	H	288	ENSP00000257290:Y288H	ENSP00000257290:Y288H	Y	+	1	0	PDGFRA	54828315	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	6.589000	0.74080	2.165000	0.68154	0.260000	0.18958	TAC		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		C	55133558	T	C	55133558	3	2	126	1	0	0	0	0	1	0	0	0	11661	1754	61	4	880	4	PDGFRA	4	55133558	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		55133558	136020718	12	8653											
RBM46	166863	broad.mit.edu	37	chr4	155720138	155720138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaacttagagattatgcttTtgttcactttttcaaccgag	11	16	7	7	1	2	1	2	0	0	1	2	4	2	1	1	0	3	2	1	0	4	7			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:155720138T>C	ENST00000281722.3	+	4	1059	c.824T>C	c.(823-825)tTt>tCt	p.F275S	RBM46_ENST00000510397.1_Missense_Mutation_p.F275S|RBM46_ENST00000514866.1_Missense_Mutation_p.F275S	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	275	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GATTATGCTTTTGTTCACTTT	0.363																																						uc003ioo.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(823-825)tTt>tCt		Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.							103	93	96					4																	155720138		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155720138T>C	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.824T>C	4.37:g.155720138T>C	ENSP00000281722:p.Phe275Ser					RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	p.F275S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			3	997	+	all_hematologic(180;0.24)	Renal(120;0.0854)	275			RRM 3.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.824T>C	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865945	0.71949	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	D;D;D	0.83419	-1.72;-1.72;-1.72	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	D	0.95188	0.8305	10	0.87932	D	0	-19.8516	16.8222	0.85835	0.0:0.0:0.0:1.0	.	275;275;275	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	S	275	ENSP00000424500:F275S;ENSP00000281722:F275S;ENSP00000422813:F275S	ENSP00000281722:F275S	F	+	2	0	RBM46	155939588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.371000	0.80710	0.533000	0.62120	TTT		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		C	155720138	T	C	155720138	3	2	126	1	0	0	0	0	1	0	0	0	13140	1841	64	4	834	4	RBM46	4	155720138	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	100586580	155720138	35434138	13	8654											
LPCAT1	79888	broad.mit.edu	37	chr5	1494825	1494825	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactcacttccccagatCgggatgtctctgctctctgc	5	13	7	16	1	4	1	2	0	3	1	9	2	5	2	2	1	2	1	2	1	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:1494825C>A	ENST00000283415.3	-	3	615	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	161					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCCCAGATCGGGATGTCTC	0.597																																						uc003jcm.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(481-483)ccG>ccT		Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.							92	76	82					5																	1494825		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1494825C>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.483G>T	5.37:g.1494825C>A							p.P161P	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	2	600	-			161					Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.483G>T	CCDS3864.1																																																																																				0.597	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		A	1494825	C	A	1494825	2	1	126	1	0	0	0	0	0	0	0	1	8910	871	31	5		5	LPCAT1	5	1494825	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08		1494825	179420435	14	8655											
HSPB3	8988	broad.mit.edu	37	chr5	53751847	53751847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcagatcctgctggaCgtggtccagttcctccctga	6	12	9	14	1	1	2	1	1	0	1	5	3	5	3	4	2	1	2	4	2	0	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:53751847C>T	ENST00000302005.1	+	1	403	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547																																						uc003jph.2																			0		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8						c.(226-228)gaC>gaT		Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.							95	87	89					5																	53751847		2203	4300	6503	SO:0001819	synonymous_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751847C>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"Heat shock proteins / HSPB"	5248	protein-coding gene	gene with protein product		604624	"heat shock 27kD protein 3"			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.228C>T	5.37:g.53751847C>T							p.D76D	NM_006308	NP_006299	Q12988	HSPB3_HUMAN			0	417	+		Lung NSC(810;0.00104)	76						Silent	SNP	ENST00000302005.1	37	c.228C>T	CCDS3961.1																																																																																				0.547	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			T	53751847	C	T	53751847	2	4	126	1	0	0	0	0	0	0	0	1	7421	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	52257022	53751847	127163413	15	8656											
CTNNA1	1495	broad.mit.edu	37	chr5	138221907	138221907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttatccaggctggaCgtaaagaaagaagtgatgca	13	11	10	7	1	0	3	0	1	0	2	2	4	2	4	2	2	1	3	2	2	5	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:138221907C>T	ENST00000302763.7	+	8	1159	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R254C|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R357C|CTNNA1_ENST00000520400.1_3'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	357	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCAGGCTGGACGTAAAGAAAG	0.378																																						uc003ldh.3																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1069-1071)Cgt>Tgt		Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.							116	121	119					5																	138221907		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138221907C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1069C>T	5.37:g.138221907C>T	ENSP00000304669:p.Arg357Cys					CTNNA1_uc011cyx.2_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.2_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.3_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.3_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.3_5'UTR	p.R357C	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	1164	+			357			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1069C>T	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492968	0.64074	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.39056	1.1;1.1;1.1	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.36672	1.1	0.80722	D	1	B;B;B	0.21821	0.061;0.031;0.037	B;B;B	0.24269	0.033;0.035;0.052	T	0.15896	-1.0421	10	0.56958	D	0.05	-1.3304	19.6978	0.96034	0.0:1.0:0.0:0.0	.	357;234;357	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	254;357;357;342;357	ENSP00000347190:R254C;ENSP00000304669:R357C;ENSP00000427821:R357C	ENSP00000304669:R357C	R	+	1	0	CTNNA1	138249806	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.766000	0.62279	2.756000	0.94617	0.655000	0.94253	CGT		0.378	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		T	138221907	C	T	138221907	3	4	126	1	0	0	0	0	1	0	0	0	4012	536	19	1	1095	1	CTNNA1	5	138221907	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	84470060	138221907	42693353	16	8657											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782734	140782734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtctctagaggtaggaCgcagcttttctctctgaacc	8	12	9	12	2	3	2	0	1	3	1	6	3	3	3	1	2	2	3	1	2	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:140782734C>T	ENST00000573521.1	+	1	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTAGGACGCAGCTTTTC	0.622																																						uc003lkh.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(214-216)aCg>aTg		Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.							58	69	66					5																	140782734		2078	4241	6319	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782734C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.215C>T	5.37:g.140782734C>T	ENSP00000460274:p.Thr72Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.T72M	p.T72M	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	215	+			72			Cadherin 1.		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.215C>T	CCDS58981.1																																																																																				0.622	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		T	140782734	C	T	140782734	3	4	126	1	0	0	0	0	1	0	0	0	11561	536	19	1	217	1	PCDHGA9	5	140782734	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	2560827	140782734	40132526	17	8658											
BTNL8	79908	broad.mit.edu	37	chr5	180377067	180377067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaagcagggaaacattaCtgggaggtggacggaggaca	13	6	15	7	1	0	0	0	0	0	0	1	5	1	5	1	6	3	1	1	6	3	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:180377067C>T	ENST00000340184.4	+	8	1232	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	BTNL8_ENST00000400707.3_Silent_p.Y217Y|BTNL8_ENST00000505126.1_Silent_p.Y135Y|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Silent_p.Y158Y|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Silent_p.Y226Y	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAACATTACTGGGAGGTGG	0.522																																						uc003mmp.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1024-1026)taC>taT		Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.							108	108	108					5																	180377067		2141	3941	6082	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180377067C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1026C>T	5.37:g.180377067C>T						BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Y217Y|BTNL8_uc010jlm.3_Silent_p.Y226Y|BTNL8_uc011dhh.2_Silent_p.Y158Y	p.Y342Y	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1260	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	342			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.1026C>T	CCDS43413.1																																																																																				0.522	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		T	180377067	C	T	180377067	2	4	126	1	0	0	0	0	0	0	0	1	1567	576	20	3		3	BTNL8	5	180377067	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	39594333	180377067	538193	18	8659											
KIF13A	63971	broad.mit.edu	37	chr6	17772259	17772259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctttaaaagggctgacGgttaaggcatgaggagtctc	12	10	13	6	1	1	2	0	2	1	0	2	3	1	3	0	4	1	4	0	4	4	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:17772259G>A	ENST00000259711.6	-	37	4461	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	KIF13A_ENST00000378814.5_Silent_p.T1439T|KIF13A_ENST00000378826.2_Silent_p.T1452T|KIF13A_ENST00000378843.2_Silent_p.T1439T|KIF13A_ENST00000378816.5_Silent_p.T1452T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1452					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGGGCTGACGGTTAAGGCAT	0.433																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4354-4356)acC>acT		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							117	111	113					6																	17772259		1914	4134	6048	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17772259G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4356C>T	6.37:g.17772259G>A						KIF13A_uc003ncf.3_Silent_p.T1439T|KIF13A_uc003nch.4_Silent_p.T1452T|KIF13A_uc003nci.4_Silent_p.T1439T|KIF13A_uc003nce.2_Silent_p.T38T	p.T1452T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		36	4516	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1452					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4356C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500830	0.12822	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.36	-9.58	0.00559	.	.	.	.	.	T	0.05868	0.0153	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17349	-1.0372	4	.	.	.	.	4.9715	0.14117	0.1543:0.2677:0.4586:0.1194	.	.	.	.	L	846	.	.	P	-	2	0	KIF13A	17880238	0.005000	0.15991	0.129000	0.21949	0.875000	0.50365	-0.557000	0.05985	-1.950000	0.01030	-1.128000	0.01989	CCG		0.433	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			A	17772259	G	A	17772259	2	1	126	1	0	0	0	0	0	0	0	1	8274	1103	39	2		2	KIF13A	6	17772259	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		17772259	153342808	19	8660											
DAXX	1616	broad.mit.edu	37	chr6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagcttgtagcatttcttgCcgcccgaactactgcttcct	6	13	7	15	2	1	0	0	0	1	0	2	1	2	0	4	0	6	4	4	0	3	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000266000.6_Missense_Mutation_p.G55D|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	55	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.3				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(163-165)gGc>gAc		Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.							221	227	225					6																	33289539		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289539C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.164G>A	6.37:g.33289539C>T	ENSP00000363668:p.Gly55Asp					DAXX_uc021ywn.1_Missense_Mutation_p.G55D|DAXX_uc021ywo.1_Missense_Mutation_p.G55D|DAXX_uc011dre.2_Missense_Mutation_p.G67D|DAXX_uc003oed.3_Missense_Mutation_p.G55D|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	p.G55D	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN			1	368	-			55			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.164G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608951	0.28623	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	4.89	4.02	0.46733	.	0.660504	0.16364	N	0.217655	T	0.29355	0.0731	L	0.36672	1.1	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.03503	-1.1030	9	0.25106	T	0.35	-0.4917	10.4358	0.44435	0.1947:0.8053:0.0:0.0	.	67;55	B4E1C1;Q9UER7	.;DAXX_HUMAN	D	55	.	ENSP00000266000:G55D	G	-	2	0	DAXX	33397517	0.869000	0.29996	0.983000	0.44433	0.735000	0.41995	1.033000	0.30191	1.281000	0.44480	0.549000	0.68633	GGC		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			T	33289539	C	T	33289539	3	4	126	1	0	0	0	0	1	0	0	0	4243	739	26	3	2086	3	DAXX	6	33289539	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	15517280	33289539	137825528	20	8661											
KPNA5	3841	broad.mit.edu	37	chr6	117023258	117023258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgattgaaactggggCtgttccgatttttatcaaac	10	14	11	6	1	1	2	1	2	0	0	2	3	2	2	1	3	2	3	1	3	4	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:117023258C>G	ENST00000368564.1	+	6	660	c.512C>G	c.(511-513)gCt>gGt	p.A171G	KPNA5_ENST00000356348.1_Missense_Mutation_p.A171G			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	168	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAACTGGGGCTGTTCCGATT	0.338																																						uc003pxh.3																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)gCt>gGt		Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.							116	115	116					6																	117023258		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117023258C>G	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.512C>G	6.37:g.117023258C>G	ENSP00000357552:p.Ala171Gly						p.A171G	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	5	643	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	168			NLS binding site (major) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.512C>G	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190558	0.94923	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70516	-0.49;-0.49	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	M	0.86343	2.81	0.58432	D	0.999997	D	0.65815	0.995	D	0.65233	0.933	D	0.86047	0.1523	10	0.66056	D	0.02	.	19.3845	0.94551	0.0:1.0:0.0:0.0	.	168	O15131	IMA5_HUMAN	G	171	ENSP00000357552:A171G;ENSP00000348704:A171G	ENSP00000348704:A171G	A	+	2	0	KPNA5	117129951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.174000	0.77620	2.596000	0.87737	0.591000	0.81541	GCT		0.338	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		G	117023258	C	G	117023258	3	3	126	1	0	0	0	0	1	0	0	0	8433	797	28	5	534	5	KPNA5	6	117023258	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	83733719	117023258	54091809	21	8662											
UTRN	7402	broad.mit.edu	37	chr6	144757266	144757266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcaaagaccagtttgcaAcccatgaagtaaatatctgt	16	10	7	8	0	2	2	1	1	1	1	2	2	2	2	2	0	2	3	2	0	7	3	rs150684617		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:144757266A>T	ENST00000367545.3	+	9	1051	c.1051A>T	c.(1051-1053)Acc>Tcc	p.T351S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	351	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTTTGCAACCCATGAAGT	0.453																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1051-1053)Acc>Tcc		Homo sapiens utrophin (UTRN), mRNA.		A	SER/THR	0,4406		0,0,2203	124	114	117		1051	5.8	1	6	dbSNP_134	117	3,8597	3.0+/-9.4	0,3,4297	no	missense	UTRN	NM_007124.2	58	0,3,6500	TT,TA,AA		0.0349,0.0,0.0231	probably-damaging	351/3434	144757266	3,13003	2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144757266A>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1051A>T	6.37:g.144757266A>T	ENSP00000356515:p.Thr351Ser					UTRN_uc010khq.1_Missense_Mutation_p.T351S	p.T351S	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	8	1143	+		Ovarian(120;0.218)	351			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1051A>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576197	0.86645	0.0	3.49E-4	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.50001	0.76	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000032	T	0.60881	0.2303	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63042	-0.6725	10	0.52906	T	0.07	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	351	P46939	UTRO_HUMAN	S	351	ENSP00000356515:T351S	ENSP00000356499:T351S	T	+	1	0	UTRN	144798959	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	7.419000	0.80179	2.326000	0.78906	0.533000	0.62120	ACC		0.453	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144757266	A	T	144757266	3	4	126	1	0	0	0	0	1	0	0	0	17100	43	2	5	1085	5	UTRN	6	144757266	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08	27734008	144757266	26357801	22	8663											
DMTF1	9988	broad.mit.edu	37	chr7	86811558	86811558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggctccggataaagcAtggcaatgactgggcaacaa	13	9	11	8	1	0	1	0	1	0	0	1	2	1	2	1	4	2	4	1	4	6	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:86811558A>G	ENST00000394703.5	+	12	1288	c.725A>G	c.(724-726)cAt>cGt	p.H242R	DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.H242R|DMTF1_ENST00000432937.2_Missense_Mutation_p.H154R|DMTF1_ENST00000413276.2_Missense_Mutation_p.H242R	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	242	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 1. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGGATAAAGCATGGCAATGAC	0.433																																						uc003uih.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(724-726)cAt>cGt		Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.							118	110	113					7																	86811558		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86811558A>G	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.725A>G	7.37:g.86811558A>G	ENSP00000378193:p.His242Arg					DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Missense_Mutation_p.H154R|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.H242R|DMTF1_uc003uin.3_5'UTR	p.H242R	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN			9	1051	+	Esophageal squamous(14;0.0058)		242			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.725A>G	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.554880	0.86231	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.76	5.76	0.90799	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.71017	-0.4714	10	0.72032	D	0.01	-15.2339	15.5592	0.76229	1.0:0.0:0.0:0.0	.	242	Q9Y222	DMTF1_HUMAN	R	242;242;154;242	ENSP00000332171:H242R;ENSP00000402627:H242R;ENSP00000412532:H154R;ENSP00000378193:H242R	ENSP00000332171:H242R	H	+	2	0	DMTF1	86649494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.323000	0.78572	0.528000	0.53228	CAT		0.433	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		G	86811558	A	G	86811558	3	3	126	1	0	0	0	0	1	0	0	0	4592	217	8	4	755	4	DMTF1	7	86811558	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08		86811558	72327105	23	8664											
TRPV5	56302	broad.mit.edu	37	chr7	142605705	142605705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtagacctcctctccaTccccctcactaaggttcagt	9	11	6	15	0	3	1	2	0	1	1	6	1	5	1	5	2	0	2	5	2	3	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:142605705T>C	ENST00000265310.1	-	15	2513	c.2165A>G	c.(2164-2166)gAt>gGt	p.D722G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	722	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTCTCCATCCCCCTCACT	0.567																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(2164-2166)gAt>gGt		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							111	106	108					7																	142605705		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605705T>C	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2165A>G	7.37:g.142605705T>C	ENSP00000265310:p.Asp722Gly						p.D722G	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			14	2429	-	Melanoma(164;0.059)		722			Involved in Ca(2+)-dependent inactivation (By similarity).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.2165A>G	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	9.181	1.023601	0.19433	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.80566	-1.39;-1.39	4.99	4.99	0.66335	.	0.311301	0.31989	N	0.006744	T	0.74794	0.3763	L	0.60455	1.87	0.45354	D	0.998345	B	0.12630	0.006	B	0.08055	0.003	T	0.72250	-0.4348	10	0.51188	T	0.08	-15.0022	8.1594	0.31190	0.1917:0.0:0.0:0.8083	.	722	Q9NQA5	TRPV5_HUMAN	G	722;667	ENSP00000265310:D722G;ENSP00000406361:D667G	ENSP00000265310:D722G	D	-	2	0	TRPV5	142315827	0.933000	0.31639	0.795000	0.32087	0.049000	0.14656	2.797000	0.47877	2.113000	0.64589	0.533000	0.62120	GAT		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		C	142605705	T	C	142605705	3	2	126	1	0	0	0	0	1	0	0	0	16596	1435	50	4	28	4	TRPV5	7	142605705	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	55794147	142605705	16532958	24	8665											
PTK2B	2185	broad.mit.edu	37	chr8	27296903	27296903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacgacagccagtgacGtctggatgttcggtgagtgc	7	10	14	10	3	2	2	1	2	1	0	3	4	2	3	1	2	2	2	1	2	0	2	rs370995513		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:27296903G>A	ENST00000397501.1	+	25	2630	c.1822G>A	c.(1822-1824)Gtc>Atc	p.V608I	PTK2B_ENST00000346049.5_Missense_Mutation_p.V608I|PTK2B_ENST00000397497.4_Missense_Mutation_p.V354I|PTK2B_ENST00000420218.2_Missense_Mutation_p.V608I|PTK2B_ENST00000544172.1_Missense_Mutation_p.V608I|PTK2B_ENST00000517339.1_Missense_Mutation_p.V608I|PTK2B_ENST00000338238.4_Missense_Mutation_p.V608I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	608	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGCCAGTGACGTCTGGATGTT	0.547																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1822-1824)Gtc>Atc		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	84	76	79		1822,1822,1822,1822	4.9	0.9	8		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	608/1010,608/1010,608/968,608/1010	27296903	1,13005	2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27296903G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1822G>A	8.37:g.27296903G>A	ENSP00000380638:p.Val608Ile					PTK2B_uc022ate.1_Missense_Mutation_p.V608I|PTK2B_uc003xfp.2_Missense_Mutation_p.V608I|PTK2B_uc003xfq.2_Missense_Mutation_p.V608I|PTK2B_uc003xfr.1_Missense_Mutation_p.V354I	p.V608I	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	24	2630	+		Ovarian(32;2.72e-05)	608			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1822G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660944	0.88154	0.0	1.16E-4	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.79	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.053146	0.85682	N	0.000000	D	0.91212	0.7231	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.99;0.924	D	0.91797	0.5448	10	0.87932	D	0	.	12.6064	0.56525	0.0798:0.0:0.9202:0.0	.	354;608;608	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	I	608;613;608;608;608;608;608;354	ENSP00000380638:V608I;ENSP00000342242:V608I;ENSP00000440926:V608I;ENSP00000332816:V608I;ENSP00000391995:V608I;ENSP00000427931:V608I;ENSP00000380634:V354I	ENSP00000342242:V608I	V	+	1	0	PTK2B	27352820	1.000000	0.71417	0.945000	0.38365	0.724000	0.41520	9.869000	0.99810	1.457000	0.47850	0.655000	0.94253	GTC		0.547	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		A	27296903	G	A	27296903	3	1	126	1	0	0	0	0	1	0	0	0	12763	1145	40	1	1896	1	PTK2B	8	27296903	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		27296903	119067119	25	8666											
GEM	2669	broad.mit.edu	37	chr8	95264452	95264452	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccattcattttccccCtaatgaaacaataagatctt	13	13	5	10	0	2	2	1	1	1	1	3	3	3	3	3	1	2	0	3	1	4	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:95264452C>T	ENST00000297596.2	-	4	673		c.e4-1		GEM_ENST00000396194.2_Splice_Site	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle						cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTTTCCCCCTAATGAAACA	0.453																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygi.3																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e4-1		Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.							54	51	52					8																	95264452		2203	4300	6503	SO:0001630	splice_region_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95264452C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.409-1G>A	8.37:g.95264452C>T						GEM_uc003ygj.3_Splice_Site_p.G137_splice	p.G137_splice	NM_181702	NP_859053	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	533	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	137					B2RA31	Splice_Site	SNP	ENST00000297596.2	37	c.409_splice	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271888	0.59649	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2434	0.82429	0.0:0.8682:0.1318:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GEM	95333628	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	7.499000	0.81566	2.937000	0.99478	0.650000	0.86243	.		0.453	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	Intron	T	95264452	C	T	95264452	5	4	126	1	0	0	0	0	0	0	1	0	6329	695	24	3	490	3	GEM	8	95264452	Splice_Site	SNP	C	TCGA-14-0740-01B-01D-1845-08	67967549	95264452	51099570	26	8667											
ZFAT	57623	broad.mit.edu	37	chr8	135613849	135613849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaccggtgctcaggggCagctttgcaagagtcaggct	7	8	15	11	1	2	2	2	1	0	1	2	2	2	2	2	4	3	5	2	4	1	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:135613849C>T	ENST00000377838.3	-	6	2287	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	ZFAT_ENST00000520214.1_Missense_Mutation_p.A693T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A693T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A643T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Missense_Mutation_p.A693T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A693T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	705					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTCAGGGGCAGCTTTGCAA	0.557																																						uc003yup.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2113-2115)Gcc>Acc		Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.							94	97	96					8																	135613849		2064	4211	6275	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135613849C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2113G>A	8.37:g.135613849C>T	ENSP00000367069:p.Ala705Thr					ZFAT_uc003yun.3_Missense_Mutation_p.A693T|ZFAT_uc003yuo.3_Missense_Mutation_p.A693T|ZFAT_uc010meh.3_Missense_Mutation_p.A693T|ZFAT_uc010mej.3_Missense_Mutation_p.A643T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A693T|ZFAT_uc003yur.3_Missense_Mutation_p.A693T	p.A705T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	2299	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		705					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2113G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898689	0.17686	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09163	3.09;3.01;3.02;3.01;3.01;3.03	5.41	-0.27	0.12926	.	1.161830	0.06122	N	0.669023	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.20887	0.004;0.049;0.002;0.001	B;B;B;B	0.22386	0.002;0.039;0.007;0.001	T	0.42783	-0.9431	10	0.23891	T	0.37	-4.2953	2.4665	0.04554	0.3843:0.358:0.1042:0.1535	.	643;693;693;705	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	693;693;693;705;693;592;643;693	ENSP00000427879:A693T;ENSP00000427831:A693T;ENSP00000394501:A693T;ENSP00000367069:A705T;ENSP00000428483:A693T;ENSP00000429091:A643T	ENSP00000326997:A592T	A	-	1	0	ZFAT	135683031	0.000000	0.05858	0.002000	0.10522	0.705000	0.40729	-1.563000	0.02154	0.071000	0.16664	0.561000	0.74099	GCC		0.557	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135613849	C	T	135613849	3	4	126	1	0	0	0	0	1	0	0	0	17629	710	25	3	1662	3	ZFAT	8	135613849	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	40349397	135613849	10750173	27	8668											
DOCK8	81704	broad.mit.edu	37	chr9	439344	439344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtacttcaccgagagtGgcctggtaggcctcctggag	7	8	14	12	1	1	1	1	0	0	1	2	3	2	2	5	4	1	2	5	4	2	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:439344G>A	ENST00000453981.1	+	40	5291	c.5179G>A	c.(5179-5181)Ggc>Agc	p.G1727S	DOCK8_ENST00000432829.2_Missense_Mutation_p.G1659S|DOCK8_ENST00000469391.1_Missense_Mutation_p.G1627S|DOCK8_ENST00000382329.1_Missense_Mutation_p.G1194S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1727	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CACCGAGAGTGGCCTGGTAGG	0.622																																						uc003zgf.2																			0		p.Y1726H(1)|p.Y1726F(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5179-5181)Ggc>Agc		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							69	64	66					9																	439344		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439344G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5179G>A	9.37:g.439344G>A	ENSP00000408464:p.Gly1727Ser					DOCK8_uc022bcu.1_Missense_Mutation_p.G1659S|DOCK8_uc010mgv.3_Missense_Mutation_p.G1627S|DOCK8_uc010mgu.3_Missense_Mutation_p.G1029S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	p.G1727S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5291	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1727			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5179G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	35	5.435525	0.96150	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.18960	2.41;2.41;2.4;2.18	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.56463	-0.7975	10	0.17369	T	0.5	.	18.2944	0.90140	0.0:0.0:1.0:0.0	.	1627;1194;1727	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	1727;1695;1659;1627;1194	ENSP00000408464:G1727S;ENSP00000394888:G1659S;ENSP00000419438:G1627S;ENSP00000371766:G1194S	ENSP00000287364:G1695S	G	+	1	0	DOCK8	429344	1.000000	0.71417	0.989000	0.46669	0.875000	0.50365	9.150000	0.94667	2.543000	0.85770	0.655000	0.94253	GGC		0.622	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	439344	G	A	439344	3	1	126	1	0	0	0	0	1	0	0	0	4693	1348	47	3	5337	3	DOCK8	9	439344	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		439344	140774087	28	8669											
COL15A1	1306	broad.mit.edu	37	chr9	101788194	101788194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttccccagggccctgaGggacagcctggagttgatgg	7	8	16	10	0	0	2	0	2	0	0	1	5	1	4	4	4	1	2	4	4	0	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:101788194G>A	ENST00000375001.3	+	16	2412	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	663	Collagen-like 1.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.E663D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGCCCTGAGGGACAGCCTG	0.582																																						uc004azb.1																			1	Substitution - Missense(1)	p.E663D(2)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1987-1989)gaG>gaA		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							75	66	69					9																	101788194		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101788194G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1989G>A	9.37:g.101788194G>A							p.E663E	NM_001855	NP_001846	P39059	COFA1_HUMAN			15	2195	+		Acute lymphoblastic leukemia(62;0.0562)	663			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1989G>A	CCDS35081.1																																																																																				0.582	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101788194	G	A	101788194	2	1	126	1	0	0	0	0	0	0	0	1	3672	991	35	3		3	COL15A1	9	101788194	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	101348850	101788194	39425237	29	8670											
ABCA1	19	broad.mit.edu	37	chr9	107555100	107555100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatttctaagatgtcattCtggcctccaccatcaagaat	11	14	6	10	0	4	3	2	1	2	2	5	3	5	3	3	1	0	0	3	1	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:107555100C>G	ENST00000374736.3	-	42	6118	c.5724G>C	c.(5722-5724)caG>caC	p.Q1908H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1908					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGATGTCATTCTGGCCTCCAC	0.423																																						uc004bcl.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5722-5724)caG>caC		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						144	126	132					9																	107555100		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555100C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5724G>C	9.37:g.107555100C>G	ENSP00000363868:p.Gln1908His						p.Q1908H	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	41	6128	-			1908					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5724G>C	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954636	0.53293	.	.	ENSG00000165029	ENST00000374736	D	0.88818	-2.43	5.9	5.9	0.94986	.	0.167803	0.53938	D	0.000043	T	0.80894	0.4711	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.13407	0.009	T	0.75614	-0.3257	10	0.49607	T	0.09	.	14.1199	0.65180	0.0:0.9277:0.0:0.0723	.	1908	O95477	ABCA1_HUMAN	H	1908	ENSP00000363868:Q1908H	ENSP00000363868:Q1908H	Q	-	3	2	ABCA1	106594921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.025000	0.41059	2.806000	0.96561	0.655000	0.94253	CAG		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		G	107555100	C	G	107555100	3	3	126	1	0	0	0	0	1	0	0	0	28	912	32	5	1097	5	ABCA1	9	107555100	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	5766906	107555100	33658331	30	8671											
GBGT1	26301	broad.mit.edu	37	chr9	136031442	136031442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccctcttgtagtgcaGcttcatgttgctggtggcag	4	15	11	11	0	3	0	1	0	2	0	4	0	3	0	1	2	3	6	1	2	1	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:136031442G>T	ENST00000372040.3	-	4	459	c.148C>A	c.(148-150)Ctg>Atg	p.L50M	GBGT1_ENST00000540636.1_Intron|RALGDS_ENST00000542690.1_Missense_Mutation_p.A62D|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.A62D|GBGT1_ENST00000372043.3_Missense_Mutation_p.L50M	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	50					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		TTGTAGTGCAGCTTCATGTTG	0.567																																						uc011mcw.2										T					CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(184-186)gCt>gAt		Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.							129	105	114					9																	136031442		2202	4300	6502	SO:0001583	missense	26301				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136031442G>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.148C>A	9.37:g.136031442G>T	ENSP00000361110:p.Leu50Met					RALGDS_uc010nab.3_Missense_Mutation_p.L50M|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Missense_Mutation_p.L50M|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.L50M	p.A62D	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	3	466	-			0					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.185C>A	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.087269|3.087269	0.55968|0.55968	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040	T;T|T;T	0.38401|0.01287	1.69;1.14|5.05;5.05	4.94|4.94	4.03|4.03	0.46877|0.46877	.|.	.|0.125962	.|0.34986	.|N	.|0.003525	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	P|D;D	0.44429|0.89917	0.835|1.0;0.999	B|D;D	0.43728|0.91635	0.429|0.999;0.999	T|T	0.65512|0.65512	-0.6150|-0.6150	9|10	0.44086|0.36615	T|T	0.13|0.2	-23.9918|-23.9918	11.2217|11.2217	0.48860|0.48860	0.0925:0.0:0.9075:0.0|0.0925:0.0:0.9075:0.0	.|.	62|50;50	F5H6M6|Q8N5D6-2;Q8N5D6	.|.;GBGT1_HUMAN	D|M	62|50	ENSP00000437518:A62D;ENSP00000361108:A62D|ENSP00000361113:L50M;ENSP00000361110:L50M	ENSP00000361108:A62D|ENSP00000361110:L50M	A|L	-|-	2|1	0|2	GBGT1;RALGDS|GBGT1	135021263|135021263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.710000|0.710000	0.40934|0.40934	3.455000|3.455000	0.52993|0.52993	2.432000|2.432000	0.82394|0.82394	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.567	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		T	136031442	G	T	136031442	3	4	126	1	0	0	0	0	1	0	0	0	6272	962	34	5	911	5	GBGT1	9	136031442	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	28476342	136031442	5181989	31	8672											
MYST4	23522	broad.mit.edu	37	chr10	76735758	76735758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatatctataccactcagGgacagtctcgcaaaaaggga	14	8	8	11	1	4	0	2	0	2	0	5	2	4	2	1	2	1	1	1	2	5	3	rs146395020	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:76735758G>A	ENST00000287239.4	+	8	2152	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	555	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TACCACTCAGGGACAGTCTCG	0.493													G|||	22	0.00439297	0	0	5008	,	,		19031	0		0	False		,,,				2504	0.0225					uc001jwn.1																			0											c.(1663-1665)Gga>Aga		Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.		G	ARG/GLY	0,4406		0,0,2203	112	98	103		1663	6.1	1	10	dbSNP_134	103	12,8588	9.1+/-34.3	0,12,4288	yes	missense	KAT6B	NM_012330.2	125	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	possibly-damaging	555/2074	76735758	12,12994	2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735758G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1663G>A	10.37:g.76735758G>A	ENSP00000287239:p.Gly555Arg					KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	p.G555R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			7	2156	+			555			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1663G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778763	0.31502	0.0	0.001395	ENSG00000156650	ENST00000287239	T	0.61040	0.14	6.08	6.08	0.98989	.	0.000000	0.45867	D	0.000324	T	0.57519	0.2059	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.54856	0.762	T	0.52726	-0.8537	9	.	.	.	-10.3105	18.8453	0.92203	0.0:0.0:1.0:0.0	.	555	Q8WYB5	KAT6B_HUMAN	R	555	ENSP00000287239:G555R	.	G	+	1	0	KAT6B	76405764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.060000	0.93907	2.890000	0.99128	0.655000	0.94253	GGA		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		A	76735758	G	A	76735758	3	1	126	1	0	0	0	0	1	0	0	0	10105	1233	43	3	1685	3	MYST4	10	76735758	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		76735758	58798989	32	8673											
CYP2C18	1562	broad.mit.edu	37	chr10	96443660	96443660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagctctggaagagggagGctcccgtctggccccactcc	7	6	13	15	1	2	2	0	0	2	2	4	4	4	4	4	4	1	2	4	4	1	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96443660G>A	ENST00000285979.6	+	1	283	c.84G>A	c.(82-84)agG>agA	p.R28R	CYP2C18_ENST00000339022.5_Silent_p.R28R	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	28					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAAGAGGGAGGCTCCCGTCTG	0.483																																						uc001kjv.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(82-84)agG>agA		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						108	94	99					10																	96443660		2203	4300	6503	SO:0001819	synonymous_variant	1562				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96443660G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.84G>A	10.37:g.96443660G>A						CYP2C19_uc001kjw.4_Silent_p.R28R	p.R28R	NM_000772	NP_000763	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	0	410	+		Colorectal(252;0.09)	28					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.84G>A	CCDS7435.1																																																																																				0.483	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		A	96443660	G	A	96443660	2	1	126	1	0	0	0	0	0	0	0	1	4165	1194	42	3		3	CYP2C18	10	96443660	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	19707902	96443660	39091087	33	8674											
CYP2C19	1557	broad.mit.edu	37	chr10	96612523	96612523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggagagggcctggcccGcatggagctgtttttattcc	5	12	15	9	1	0	1	0	0	0	1	1	3	1	2	3	4	1	3	3	4	1	4	rs138112316		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96612523G>A	ENST00000371321.3	+	9	1407	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	442			R -> C (in allele CYP2C19*16; lowered catalytic activity; dbSNP:rs192154563). {ECO:0000269|PubMed:15499191}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R442H(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCCTGGCCCGCATGGAGCTG	0.433																																						uc010qnz.2																			3	Substitution - Missense(3)	p.R442H(4)|p.R442L(2)	lung(1)|large_intestine(1)|prostate(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1324-1326)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						136	127	130					10																	96612523		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612523G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1325G>A	10.37:g.96612523G>A	ENSP00000360372:p.Arg442His					CYP2C19_uc010qny.2_Missense_Mutation_p.R420H	p.R442H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	8	1325	+		Colorectal(252;0.09)	442		R -> C (in allele CYP2C19*16; lowered catalytic activity).			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1325G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194038	0.78902	.	.	ENSG00000165841	ENST00000371321	T	0.70516	-0.49	3.19	3.19	0.36642	.	0.000000	0.64402	U	0.000003	T	0.74298	0.3698	M	0.89414	3.03	0.34964	D	0.752479	P	0.44946	0.846	B	0.41036	0.346	D	0.85401	0.1131	10	0.72032	D	0.01	.	12.2643	0.54668	0.0:0.0:1.0:0.0	.	442	P33261	CP2CJ_HUMAN	H	442	ENSP00000360372:R442H	ENSP00000360372:R442H	R	+	2	0	CYP2C19	96602513	0.985000	0.35326	0.998000	0.56505	0.918000	0.54935	5.208000	0.65203	1.492000	0.48499	0.597000	0.82753	CGC		0.433	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		A	96612523	G	A	96612523	3	1	126	1	0	0	0	0	1	0	0	0	4166	1087	38	1	1359	1	CYP2C19	10	96612523	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	168863	96612523	38922224	34	8675											
BTBD16	118663	broad.mit.edu	37	chr10	124066797	124066797	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaggcaattccgacttaTgaaaccgtgatgacattttt	12	14	7	8	2	1	3	1	3	0	0	2	4	2	3	2	1	1	1	2	1	3	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:124066797T>A	ENST00000260723.4	+	10	1136	c.885T>A	c.(883-885)taT>taA	p.Y295*	BTBD16_ENST00000368994.2_Nonsense_Mutation_p.Y296*	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	295										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTCCGACTTATGAAACCGTGA	0.353																																						uc001lgc.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(883-885)taT>taA		Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.							116	117	116					10																	124066797		2203	4300	6503	SO:0001587	stop_gained	118663							g.chr10:124066797T>A	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.885T>A	10.37:g.124066797T>A	ENSP00000260723:p.Tyr295*					BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	p.Y295*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			9	1136	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	295					A6NM63|Q4VXL1|Q96LN0	Nonsense_Mutation	SNP	ENST00000260723.4	37	c.885T>A	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	T	32	5.123467	0.94429	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	.	.	.	5.29	-3.26	0.05064	.	1.048650	0.07485	N	0.904684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0E-4	5.4438	0.16523	0.0:0.3305:0.2704:0.399	.	.	.	.	X	295;296	.	ENSP00000260723:Y295X	Y	+	3	2	BTBD16	124056787	0.071000	0.21146	0.000000	0.03702	0.021000	0.10359	-0.741000	0.04855	-0.946000	0.03677	0.533000	0.62120	TAT		0.353	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		A	124066797	T	A	124066797	4	1	126	1	0	0	0	0	0	1	0	0	1541	1471	51	5	919	5	BTBD16	10	124066797	Nonsense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	27454274	124066797	11467950	35	8676											
OR4C46	119749	broad.mit.edu	37	chr11	51515606	51515606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatttcttcggaggtgcaGagggcatcctacttactgtg	9	12	11	9	1	1	1	0	0	1	1	3	2	2	2	1	3	4	2	1	3	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr11:51515606G>A	ENST00000328188.1	+	1	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473																																						uc010ric.2																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(325-327)Gag>Aag		Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.							151	144	146					11																	51515606		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515606G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.325G>A	11.37:g.51515606G>A	ENSP00000329056:p.Glu109Lys						p.E109K	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			0	325	+			109						Missense_Mutation	SNP	ENST00000328188.1	37	c.325G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.648004	0.29336	.	.	ENSG00000185926	ENST00000328188	T	0.40225	1.04	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000273	T	0.64516	0.2605	H	0.95114	3.625	0.09310	N	0.999995	D	0.54601	0.967	P	0.53224	0.721	T	0.63278	-0.6673	10	0.87932	D	0	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	109	A6NHA9	O4C46_HUMAN	K	109	ENSP00000329056:E109K	ENSP00000329056:E109K	E	+	1	0	OR4C46	51372182	0.979000	0.34478	0.131000	0.22000	0.006000	0.05464	3.490000	0.53245	1.513000	0.48852	0.134000	0.15878	GAG		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		A	51515606	G	A	51515606	3	1	126	1	0	0	0	0	1	0	0	0	11051	943	33	3	327	3	OR4C46	11	51515606	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		51515606	83490910	36	8677											
CPSF6	11052	broad.mit.edu	37	chr12	69652697	69652697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacactagctcctcctcCgcatcttcctggaccacctc	6	11	4	20	1	1	0	0	0	1	0	6	1	5	1	7	1	2	2	7	1	2	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:69652697C>T	ENST00000435070.2	+	6	1132	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	CPSF6_ENST00000266679.8_Missense_Mutation_p.P378L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P268L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	341	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GCTCCTCCTCCGCATCTTCCT	0.617																																						uc001sut.4																			0		p.P341P(1)		endometrium(1)|large_intestine(7)|lung(8)	16						c.(1021-1023)cCg>cTg		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							127	122	124					12																	69652697		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652697C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1022C>T	12.37:g.69652697C>T	ENSP00000391774:p.Pro341Leu					CPSF6_uc001suu.4_Missense_Mutation_p.P378L|CPSF6_uc010stk.2_5'UTR	p.P341L	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		5	1132	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		341			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1022C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595079	0.46318	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	5.0	5.0	0.66597	.	0.048775	0.85682	D	0.000000	T	0.72471	0.3464	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.69331	-0.5173	8	.	.	.	-3.2705	18.8581	0.92262	0.0:1.0:0.0:0.0	.	378;341	Q16630-2;Q16630	.;CPSF6_HUMAN	L	341;268;378	.	.	P	+	2	0	CPSF6	67938964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.688000	0.68227	2.770000	0.95276	0.563000	0.77884	CCG		0.617	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		T	69652697	C	T	69652697	3	4	126	1	0	0	0	0	1	0	0	0	3829	652	23	2	1044	2	CPSF6	12	69652697	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		69652697	64199198	37	8678											
SLC6A15	55117	broad.mit.edu	37	chr12	85255645	85255645	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttataggtcacagaTgctaaattaccagaactatc	13	12	5	11	0	2	2	1	0	1	2	4	2	2	2	2	1	3	1	2	1	7	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:85255645T>A	ENST00000266682.5	-	12	2500	c.1959A>T	c.(1957-1959)gcA>gcT	p.A653A	SLC6A15_ENST00000552192.1_Silent_p.A546A|SLC6A15_ENST00000309283.7_Splice_Site_p.H315L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	653					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGGTCACAGATGCTAAATTAC	0.438																																						uc001szv.3																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1957-1959)gcA>gcT		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.							126	128	127					12																	85255645		2203	4300	6503	SO:0001819	synonymous_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255645T>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1959A>T	12.37:g.85255645T>A						SLC6A15_uc010sul.2_Silent_p.A546A	p.A653A	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN			11	2452	-			653					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	c.1959A>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	9.253	1.041269	0.19669	.	.	ENSG00000072041	ENST00000309283	T	0.76578	-1.03	5.99	-0.783	0.10958	.	.	.	.	.	T	0.65217	0.2670	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53236	-0.8467	8	0.87932	D	0	.	5.2307	0.15420	0.1046:0.0608:0.3777:0.457	.	315	F8WJN6	.	L	315	ENSP00000311645:H315L	ENSP00000311645:H315L	H	-	2	0	SLC6A15	83779776	0.970000	0.33590	0.989000	0.46669	0.977000	0.68977	-0.009000	0.12765	-0.362000	0.08113	-0.313000	0.08912	CAT		0.438	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		A	85255645	T	A	85255645	2	1	126	1	0	0	0	0	0	0	0	1	14678	1451	51	5		5	SLC6A15	12	85255645	Silent	SNP	T	TCGA-14-0740-01B-01D-1845-08	15602948	85255645	48596250	38	8679											
ARL1	400	broad.mit.edu	37	chr12	101794864	101794864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatggcaactaactctgaTttggaaatgccaattcggtc	13	11	8	9	1	1	1	0	1	1	0	3	2	1	2	1	3	4	1	1	3	5	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:101794864T>A	ENST00000261636.8	-	4	486	c.312A>T	c.(310-312)aaA>aaT	p.K104N	ARL1_ENST00000536227.1_Missense_Mutation_p.K87N|ARL1_ENST00000539055.1_Missense_Mutation_p.K58N|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551671.1_Missense_Mutation_p.K104N|ARL1_ENST00000551828.1_Missense_Mutation_p.K87N	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	104					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CTAACTCTGATTTGGAAATGC	0.348																																						uc001tib.3																			0				central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(310-312)aaA>aaT		Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.							130	120	123					12																	101794864		1877	4103	5980	SO:0001583	missense	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101794864T>A	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"ADP-ribosylation factors-like", "ADP-ribosylation factors"	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.312A>T	12.37:g.101794864T>A	ENSP00000261636:p.Lys104Asn					ARL1_uc010svn.2_Missense_Mutation_p.K58N|ARL1_uc010svo.2_Non-coding_Transcript	p.K104N	NM_001177	NP_001168	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	3	461	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	104					B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	c.312A>T	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060186	0.76074	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.46	2.82	0.32997	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.93197	3.39	0.80722	D	1	P;P;P	0.45428	0.809;0.858;0.809	B;B;B	0.42916	0.402;0.368;0.402	T	0.76326	-0.3000	10	0.87932	D	0	-25.155	7.5258	0.27653	0.0:0.4237:0.0:0.5763	.	58;104;104	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	N	104;58;87;87;104	ENSP00000261636:K104N;ENSP00000439590:K58N;ENSP00000441808:K87N;ENSP00000448850:K87N;ENSP00000448912:K104N	ENSP00000261636:K104N	K	-	3	2	ARL1	100318995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.113000	0.31184	0.933000	0.37291	0.482000	0.46254	AAA		0.348	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		A	101794864	T	A	101794864	3	1	126	1	0	0	0	0	1	0	0	0	925	1490	52	5	245	5	ARL1	12	101794864	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	16539219	101794864	32057031	39	8680											
CDX2	1045	broad.mit.edu	37	chr13	28537311	28537311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaaccccagggacagAgccaggcactgaggcttgca	11	3	12	15	0	0	3	0	1	0	2	0	4	0	4	5	3	3	3	5	3	1	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr13:28537311A>G	ENST00000381020.7	-	3	3015	c.883T>C	c.(883-885)Tct>Cct	p.S295P	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	295					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCAGGGACAGAGCCAGGCACT	0.657			T	ETV6	AML																																	uc001urv.3				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(883-885)Tct>Cct		Homo sapiens caudal type homeobox 2 (CDX2), mRNA.							55	55	55					13																	28537311		2203	4300	6503	SO:0001583	missense	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28537311A>G	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.883T>C	13.37:g.28537311A>G	ENSP00000370408:p.Ser295Pro						p.S295P	NM_001265	NP_001256	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	2	1057	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	295					O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	c.883T>C	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256344	0.39896	.	.	ENSG00000165556	ENST00000381020	D	0.90069	-2.61	5.08	-0.23	0.13090	.	0.283274	0.25581	N	0.029698	T	0.74045	0.3665	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.60806	-0.7190	10	0.40728	T	0.16	-4.3215	4.5333	0.12015	0.581:0.1597:0.2593:0.0	.	295	Q99626	CDX2_HUMAN	P	295	ENSP00000370408:S295P	ENSP00000370408:S295P	S	-	1	0	CDX2	27435311	0.004000	0.15560	0.946000	0.38457	0.940000	0.58332	0.276000	0.18716	-0.026000	0.13895	0.533000	0.62120	TCT		0.657	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			G	28537311	A	G	28537311	3	3	126	1	0	0	0	0	1	0	0	0	3183	304	11	4	62	4	CDX2	13	28537311	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08		28537311	86632567	40	8681											
TEP1	7011	broad.mit.edu	37	chr14	20841727	20841727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggttaccaccagaagctctGacccaggctgtccagctgat	9	8	10	14	1	1	3	0	2	1	1	2	3	2	3	4	2	3	4	4	2	2	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:20841727G>A	ENST00000262715.5	-	46	6660	c.6620C>T	c.(6619-6621)tCa>tTa	p.S2207L	TEP1_ENST00000545983.1_Missense_Mutation_p.S545L|TEP1_ENST00000556935.1_Missense_Mutation_p.S2099L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2207					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAAGCTCTGACCCAGGCTG	0.577																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6619-6621)tCa>tTa		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							72	68	69					14																	20841727		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841727G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6620C>T	14.37:g.20841727G>A	ENSP00000262715:p.Ser2207Leu					TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	p.S2207L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	45	6660	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2207					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6620C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500287	0.85176	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.58797	2.12;2.12;0.31	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.252676	0.33670	N	0.004664	T	0.63745	0.2537	N	0.24115	0.695	0.39705	D	0.971249	D;P;D;P	0.89917	0.997;0.944;1.0;0.906	P;P;D;B	0.85130	0.84;0.646;0.997;0.444	T	0.68769	-0.5321	10	0.66056	D	0.02	-1.9902	14.3343	0.66578	0.0:0.0:1.0:0.0	.	545;2099;1550;2207	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	L	2207;2207;2099;545	ENSP00000262715:S2207L;ENSP00000452574:S2099L;ENSP00000438849:S545L	ENSP00000262715:S2207L	S	-	2	0	TEP1	19911567	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.489000	0.60309	2.459000	0.83118	0.655000	0.94253	TCA		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20841727	G	A	20841727	3	1	126	1	0	0	0	0	1	0	0	0	15756	1294	45	3	1303	3	TEP1	14	20841727	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		20841727	86507813	41	8682											
BCL11B	64919	broad.mit.edu	37	chr14	99642350	99642351	+	Frame_Shift_Ins	INS	-	-	CA																															ttcatgagcggggactgcgcINScacggcctccggcccgagcg																										TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:99642350_99642351insCA	ENST00000357195.3	-	4	831_832	c.822_823insTG	c.(820-825)gtggcgfs	p.A275fs	BCL11B_ENST00000345514.2_Frame_Shift_Ins_p.A204fs|BCL11B_ENST00000443726.2_Frame_Shift_Ins_p.A81fs	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	275					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGGACTGCGCCACGGCCTCCG	0.718			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(820-825)gtggcgfs		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	64919					nucleus	zinc ion binding	g.chr14:99642350_99642351insCA	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.821_822dupTG	14.37:g.99642351_99642352dupCA	ENSP00000349723:p.Ala275fs					BCL11B_uc001ygb.3_Frame_Shift_Ins_p.V203fs	p.V274fs	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1089_1090	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	274					Q9H162	Frame_Shift_Ins	INS	ENST00000357195.3	37	c.822_823insTG	CCDS9950.1																																																																																				0.718	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		CA	99642351	-	CA	99642350	7	5	126	1	0	1	1	0	0	0	0	0	1364	739	26	0	1865	0	BCL11B	14	99642350	Frame_Shift_Ins	INS	-	TCGA-14-0740-01B-01D-1845-08	78800623	99642350	7707190	42	8683											
CASC5	57082	broad.mit.edu	37	chr15	40911168	40911168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaaatagggatgaacacaTtgctttctgctcccattcat	11	14	6	10	0	3	1	1	1	2	0	4	2	4	2	1	1	3	2	1	1	4	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:40911168T>G	ENST00000346991.5	+	10	802	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	CASC5_ENST00000399668.2_Missense_Mutation_p.L112V|CASC5_ENST00000527044.1_Intron			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	138	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATGAACACATTGCTTTCTGC	0.333																																						uc010bbs.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(412-414)Ttg>Gtg		Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.							157	149	152					15																	40911168		1859	4097	5956	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40911168T>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.412T>G	15.37:g.40911168T>G	ENSP00000335463:p.Leu138Val					CASC5_uc010ucq.1_Intron|CASC5_uc001zme.3_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	p.L138V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	9	573	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	138			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.412T>G	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619320	0.66787	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.60797	0.16;0.16	4.78	3.68	0.42216	.	0.000000	0.47852	D	0.000208	T	0.70430	0.3223	M	0.66939	2.045	0.25546	N	0.987134	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.60490	-0.7253	10	0.87932	D	0	.	9.5447	0.39273	0.0:0.0837:0.0:0.9163	.	112;138;112	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	138;112;112	ENSP00000335463:L138V;ENSP00000382576:L112V	ENSP00000260369:L112V	L	+	1	2	CASC5	38698460	0.974000	0.33945	0.974000	0.42286	0.976000	0.68499	1.517000	0.35867	2.143000	0.66587	0.455000	0.32223	TTG		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40911168	T	G	40911168	3	3	126	1	0	0	0	0	1	0	0	0	2663	1490	52	5	446	5	CASC5	15	40911168	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		40911168	61620224	43	8684											
FES	2242	broad.mit.edu	37	chr15	91438682	91438682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagagctgtgtcctgatgCcgtgttcaggctcatggagc	6	10	13	12	1	2	2	2	1	0	1	3	3	3	3	3	2	3	3	3	2	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:91438682C>T	ENST00000328850.3	+	19	2505	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	FES_ENST00000414248.2_Missense_Mutation_p.A660V|FES_ENST00000394300.3_Missense_Mutation_p.A730V|FES_ENST00000394302.1_Missense_Mutation_p.A647V|FES_ENST00000444422.2_Missense_Mutation_p.A718V|FES_ENST00000450438.2_Missense_Mutation_p.A660V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	788	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTCCTGATGCCGTGTTCAGG	0.632																																						uc002bpv.3																			0				lung(2)|ovary(1)	3						c.(2362-2364)gCc>gTc		Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.							84	85	84					15																	91438682		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91438682C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2363C>T	15.37:g.91438682C>T	ENSP00000331504:p.Ala788Val					FES_uc010uqj.2_Missense_Mutation_p.A660V|FES_uc010uqk.2_Missense_Mutation_p.A770V|FES_uc002bpx.3_Missense_Mutation_p.A718V|FES_uc002bpy.3_Missense_Mutation_p.A730V|FES_uc010bny.3_Missense_Mutation_p.A647V	p.A788V	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		18	2482	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		788			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2363C>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780376	0.49891	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.1	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.115802	0.64402	D	0.000020	D	0.82664	0.5086	N	0.25890	0.77	0.41443	D	0.987938	D;P;D;D;P;D	0.89917	0.992;0.453;1.0;0.99;0.623;0.992	P;B;D;P;B;P	0.64506	0.646;0.189;0.926;0.49;0.189;0.624	T	0.83218	-0.0070	10	0.54805	T	0.06	-14.6729	10.0694	0.42324	0.3415:0.6585:0.0:0.0	.	770;660;647;730;718;788	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	V	788;660;647;718;730;660	ENSP00000331504:A788V;ENSP00000414629:A660V;ENSP00000377839:A647V;ENSP00000400868:A718V;ENSP00000377837:A730V;ENSP00000409915:A660V	ENSP00000331504:A788V	A	+	2	0	FES	89239686	1.000000	0.71417	0.497000	0.27552	0.909000	0.53808	4.483000	0.60264	2.294000	0.77228	0.555000	0.69702	GCC		0.632	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		T	91438682	C	T	91438682	3	4	126	1	0	0	0	0	1	0	0	0	5820	739	26	3	2433	3	FES	15	91438682	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	50527514	91438682	11092710	44	8685											
ADAMTS17	170691	broad.mit.edu	37	chr15	100537641	100537641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagtcctggccttcacaGctctgcactgccgccggccg	5	7	12	17	3	2	0	1	0	1	0	3	0	3	0	5	3	3	3	5	3	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:100537641G>A	ENST00000268070.4	-	19	2850	c.2745C>T	c.(2743-2745)agC>agT	p.S915S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	915	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTTCACAGCTCTGCACTg	0.677																																						uc002bvv.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2743-2745)agC>agT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.							34	37	36					15																	100537641		2202	4300	6502	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537641G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2745C>T	15.37:g.100537641G>A							p.S915S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	18	2824	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		915			TSP type-1 3.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2745C>T	CCDS10383.1																																																																																				0.677	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100537641	G	A	100537641	2	1	126	1	0	0	0	0	0	0	0	1	262	962	34	3		3	ADAMTS17	15	100537641	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	9098959	100537641	1993751	45	8686											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251946	25251946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgcgatatttgctggggtCggtactctgggaaacaactc	8	13	12	8	2	1	0	0	0	1	0	3	2	1	1	0	4	5	2	0	4	4	4	rs148950715	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr16:25251946C>T	ENST00000328086.7	-	7	2898	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	699					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGCTGGGGTCGGTACTCTGG	0.418													C|||	2	0.000399361	0.0015	0	5008	,	,		19248	0		0	False		,,,				2504	0					uc002dod.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2095-2097)Gac>Aac		Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.		C	ASN/ASP	2,4392	4.2+/-10.8	0,2,2195	125	117	120		2095	4.2	0	16	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZKSCAN2	NM_001012981.4	23	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	benign	699/968	25251946	3,12991	2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251946C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2095G>A	16.37:g.25251946C>T	ENSP00000331626:p.Asp699Asn					ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D495N	p.D699N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2502	-			699					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2095G>A	CCDS32410.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.014	-1.594155	0.00857	4.55E-4	1.16E-4	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.06449	3.3	5.13	4.17	0.49024	.	0.179867	0.39341	N	0.001390	T	0.02304	0.0071	N	0.16307	0.4	0.09310	N	1	B;B	0.21520	0.001;0.057	B;B	0.13407	0.001;0.009	T	0.42766	-0.9432	10	0.02654	T	1	-15.6442	10.5507	0.45087	0.0:0.9052:0.0:0.0948	.	495;699	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	N	699	ENSP00000331626:D699N	ENSP00000331626:D699N	D	-	1	0	ZKSCAN2	25159447	0.065000	0.20965	0.026000	0.17262	0.082000	0.17680	0.208000	0.17415	1.373000	0.46208	0.655000	0.94253	GAC		0.418	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		T	25251946	C	T	25251946	3	4	126	1	0	0	0	0	1	0	0	0	17684	884	31	2	812	2	ZKSCAN2	16	25251946	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		25251946	65102807	46	8687											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G245S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577548	C	T	7577548	3	4	126	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		7577548	73617662	47	8688											
PIRT	644139	broad.mit.edu	37	chr17	10728644	10728644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcacccacaccagccCgcacaccagcatcatgagtc	11	4	9	17	1	1	1	1	1	0	0	2	2	1	1	4	1	2	3	4	1	0	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:10728644C>T	ENST00000580256.2	-	2	957	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	107						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CACACCAGCCCGCACACCAGC	0.527																																						uc010col.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(319-321)Ggg>Agg		Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.							95	98	97					17																	10728644		2096	4235	6331	SO:0001583	missense	644139					integral to membrane		g.chr17:10728644C>T	AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.319G>A	17.37:g.10728644C>T	ENSP00000462046:p.Gly107Arg					PIRT_uc021tqe.1_Missense_Mutation_p.G107R	p.G107R	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN			1	614	-			107					B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	c.319G>A	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635558	0.87760	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.67636	0.2914	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.69888	-0.5023	8	0.87932	D	0	-3.1974	16.6254	0.84969	0.0:1.0:0.0:0.0	.	107	P0C851	PIRT_HUMAN	R	107	.	ENSP00000408936:G107R	G	-	1	0	PIRT	10669369	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	6.129000	0.71657	2.782000	0.95742	0.655000	0.94253	GGG		0.527	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		T	10728644	C	T	10728644	3	4	126	1	0	0	0	0	1	0	0	0	11945	652	23	2	98	2	PIRT	17	10728644	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	3151096	10728644	70466566	48	8689											
CCL3	6348	broad.mit.edu	37	chr17	34416597	34416597	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaaattctgtggaatctgCcgggaggtgtagctgaagca	11	10	14	6	1	2	2	0	2	2	0	2	4	2	4	1	3	3	3	1	3	4	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:34416597C>T	ENST00000225245.5	-	2	202	c.120G>A	c.(118-120)cgG>cgA	p.R40R	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	40		Involved in GAG binding.			astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATCTGCCGGGAGGTGT	0.542																																						uc002hkv.3																			0				breast(2)|lung(3)|urinary_tract(1)	6						c.(118-120)cgG>cgA		Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.							136	143	141					17																	34416597		2203	4297	6500	SO:0001819	synonymous_variant	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416597C>T	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"Chemokine ligands", "Endogenous ligands"	10627	protein-coding gene	gene with protein product		182283	"small inducible cytokine A3 (homologous to mouse Mip-1a)"	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.120G>A	17.37:g.34416597C>T							p.R40R	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	222	-		Ovarian(249;0.17)	40				Involved in GAG binding.		Silent	SNP	ENST00000225245.5	37	c.120G>A	CCDS11307.1																																																																																				0.542	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		T	34416597	C	T	34416597	2	4	126	1	0	0	0	0	0	0	0	1	2901	726	26	3		3	CCL3	17	34416597	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	23687953	34416597	46778613	49	8690											
KIF18B	146909	broad.mit.edu	37	chr17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaacctcacctcgcaaCgcgcttcttcttgcaggcag	8	9	7	17	3	3	0	1	0	2	0	5	0	4	0	3	1	3	4	3	1	2	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:43004364C>T	ENST00000593135.1	-	14	2456	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	KIF18B_ENST00000590129.1_Missense_Mutation_p.V808I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V799I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V799I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V790I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	799					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637																																						uc010wji.2																			1	Substitution - Missense(1)	p.V799I(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2368-2370)Gtt>Att		Homo sapiens kinesin family member 18B (KIF18B), mRNA.							33	36	35					17																	43004364		2033	4203	6236	SO:0001583	missense	146909							g.chr17:43004364C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2359G>A	17.37:g.43004364C>T	ENSP00000465992:p.Val787Ile					KIF18B_uc002iht.3_Missense_Mutation_p.V799I|KIF18B_uc010wjh.2_Missense_Mutation_p.V787I	p.V790I	NM_001080443	NP_001073912					13	2469	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2368G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722392	0.15439	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.66;-0.67	4.94	-9.87	0.00470	.	.	.	.	.	T	0.44117	0.1278	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.29579	-1.0007	9	0.36615	T	0.2	.	4.9781	0.14151	0.0807:0.4484:0.343:0.1279	.	799;796;808	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	799;790;799	ENSP00000412798:V799I;ENSP00000341466:V790I	ENSP00000341466:V790I	V	-	1	0	KIF18B	40359890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.657000	0.00202	-3.230000	0.00209	-1.004000	0.02495	GTT		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43004364	C	T	43004364	3	4	126	1	0	0	0	0	1	0	0	0	8281	536	19	1	210	1	KIF18B	17	43004364	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	8587767	43004364	38190846	50	8691											
MUC16	94025	broad.mit.edu	37	chr19	9077406	9077406	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccagtagagccatgcCacatagagaattccattcca	12	9	6	14	0	0	2	0	0	0	2	4	3	4	2	6	0	2	1	6	0	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:9077406C>T	ENST00000397910.4	-	3	10243	c.10040G>A	c.(10039-10041)tGg>tAg	p.W3347*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3348	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCCATGCCACATAGAGAA	0.502																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10039-10041)tGg>tAg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							175	163	167					19																	9077406		1942	4151	6093	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077406C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10040G>A	19.37:g.9077406C>T	ENSP00000381008:p.Trp3347*						p.W3347*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	10244	-			3348			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.10040G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	51	17.854909	0.99894	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.73	-0.79	0.10932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.2196	0.03969	0.2998:0.5021:0.0:0.1981	.	.	.	.	X	3347	.	ENSP00000381008:W3347X	W	-	2	0	MUC16	8938406	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	0.105000	0.15333	-0.126000	0.11682	0.205000	0.17691	TGG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9077406	C	T	9077406	4	4	126	1	0	0	0	0	0	1	0	0	9973	595	21	3	33811	3	MUC16	19	9077406	Nonsense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		9077406	50051577	51	8692											
C19orf54	284325	broad.mit.edu	37	chr19	41250512	41250512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctttccgtggccacccGtatgagtctctccaggggga	5	10	12	14	2	2	1	0	1	2	0	5	2	4	2	5	3	0	1	5	3	1	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:41250512G>A	ENST00000378313.2	-	3	588	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	C19orf54_ENST00000339153.3_Missense_Mutation_p.T26M|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598729.1_Missense_Mutation_p.T26M|C19orf54_ENST00000598485.2_Missense_Mutation_p.T26M|C19orf54_ENST00000470681.1_Missense_Mutation_p.R19W	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	157										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGGCCACCCGTATGAGTCTC	0.627																																						uc002oou.1																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(469-471)Cgg>Tgg		Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.							79	59	66					19																	41250512		2203	4300	6503	SO:0001583	missense	284325							g.chr19:41250512G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.469C>T	19.37:g.41250512G>A	ENSP00000367564:p.Arg157Trp					C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_Non-coding_Transcript	p.R157W	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	589	-			157					A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	c.469C>T	CCDS12564.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919553|2.919553	0.52653|0.52653	.|.	.|.	ENSG00000188493|ENSG00000188493	ENST00000378313|ENST00000339153	.|.	.|.	.|.	5.83|5.83	4.77|4.77	0.60923|0.60923	.|.	2.468160|.	0.01632|.	N|.	0.023590|.	T|T	0.25344|0.25344	0.0616|0.0616	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999988|0.999988	P;D|P	0.57257|0.43094	0.77;0.979|0.799	B;B|B	0.43123|0.37780	0.292;0.409|0.258	T|T	0.10019|0.10019	-1.0648|-1.0648	9|8	0.87932|0.36615	D|T	0|0.2	-9.6704|-9.6704	14.6269|14.6269	0.68626|0.68626	0.0:0.2384:0.7616:0.0|0.0:0.2384:0.7616:0.0	.|.	19;157|26	Q6ZWG5;Q5BKX5|Q5BKX5-3	.;CS054_HUMAN|.	W|M	157|26	.|.	ENSP00000367564:R157W|ENSP00000341122:T26M	R|T	-|-	1|2	2|0	C19orf54|C19orf54	45942352|45942352	0.953000|0.953000	0.32496|0.32496	0.991000|0.991000	0.47740|0.47740	0.534000|0.534000	0.34807|0.34807	1.863000|1.863000	0.39459|0.39459	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.627	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		A	41250512	G	A	41250512	3	1	126	1	0	0	0	0	1	0	0	0	1936	1144	40	1	602	1	C19orf54	19	41250512	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	32173106	41250512	17878471	52	8693											
CEACAM5	1048	broad.mit.edu	37	chr19	42213611	42213611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcctagcctcacttctaaCcttctggaacccgcccacca	8	10	4	19	1	4	0	1	0	3	0	5	1	4	1	6	1	3	0	6	1	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:42213611C>A	ENST00000221992.6	+	2	191	c.77C>A	c.(76-78)aCc>aAc	p.T26N	CEACAM5_ENST00000398599.4_Missense_Mutation_p.T26N|CEA_ENST00000598976.1_Missense_Mutation_p.T26N|CEACAM5_ENST00000405816.1_Missense_Mutation_p.T26N|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	26					homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCACTTCTAACCTTCTGGAAC	0.537																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(76-78)aCc>aAc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.							142	134	137					19																	42213611		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213611C>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.77C>A	19.37:g.42213611C>A	ENSP00000221992:p.Thr26Asn					CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N	p.T26N	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	1	198	+			26					H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.77C>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	15.33|15.33	2.800275|2.800275	0.50208|0.50208	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.39787	.|1.06;1.06	3.0|3.0	-0.994|-0.994	0.10225|0.10225	.|.	.|.	.|.	.|.	.|.	T|T	0.46580|0.46580	0.1400|0.1400	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|P;P;D	.|0.54601	.|0.95;0.877;0.967	.|P;P;P	.|0.62014	.|0.896;0.627;0.897	T|T	0.44682|0.44682	-0.9312|-0.9312	5|9	.|0.08599	.|T	.|0.76	.|.	4.6893|4.6893	0.12772|0.12772	0.0:0.4121:0.4466:0.1413|0.0:0.4121:0.4466:0.1413	.|.	.|26;26;26	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	K|N	22|26	.|ENSP00000221992:T26N;ENSP00000385072:T26N	.|ENSP00000221992:T26N	N|T	+|+	3|2	2|0	CEACAM5|CEACAM5	46905451|46905451	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.679000|0.679000	0.39708|0.39708	-0.607000|-0.607000	0.05648|0.05648	0.121000|0.121000	0.18284|0.18284	0.305000|0.305000	0.20034|0.20034	AAC|ACC		0.537	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42213611	C	A	42213611	3	1	126	1	0	0	0	0	1	0	0	0	3195	507	18	5	83	5	CEACAM5	19	42213611	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	963099	42213611	16915372	53	8694											
NLRP12	91662	broad.mit.edu	37	chr19	54312882	54312882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcggagcacctcgcGcggtcttccccgtccgcgct	2	8	12	19	7	1	0	0	0	1	0	5	1	4	1	5	2	2	3	5	2	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:54312882G>A	ENST00000324134.6	-	3	2199	c.2031C>T	c.(2029-2031)cgC>cgT	p.R677R	NLRP12_ENST00000391772.1_Silent_p.R677R|NLRP12_ENST00000351894.4_Silent_p.R677R|NLRP12_ENST00000391773.1_Silent_p.R677R|NLRP12_ENST00000535162.1_Silent_p.R677R|NLRP12_ENST00000391775.3_Silent_p.R677R|NLRP12_ENST00000345770.5_Silent_p.R677R|NLRP12_ENST00000354278.3_Silent_p.R677R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	677					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACCTCGCGCGGTCTTCCC	0.587																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2029-2031)cgC>cgT		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							30	28	29					19																	54312882		2203	4299	6502	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54312882G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2031C>T	19.37:g.54312882G>A						NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.R677R|NLRP12_uc002qci.4_Silent_p.R677R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.R677R	p.R677R	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	2251	-	Ovarian(34;0.19)		677					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.2031C>T	CCDS12864.1																																																																																				0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54312882	G	A	54312882	2	1	126	1	0	0	0	0	0	0	0	1	10474	1074	38	1		1	NLRP12	19	54312882	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	12099271	54312882	4816101	54	8695											
BCAS1	8537	broad.mit.edu	37	chr20	52570143	52570143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctcggctgctgacttcTtgtccttcgaggagccctct	4	14	9	14	2	4	1	1	1	3	0	7	3	5	2	2	2	2	2	2	2	0	3	rs372161022		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr20:52570143T>C	ENST00000395961.3	-	11	1674	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	BCAS1_ENST00000371440.3_Missense_Mutation_p.K512R|BCAS1_ENST00000434986.2_Missense_Mutation_p.K169R|BCAS1_ENST00000371435.2_Missense_Mutation_p.K425R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	503						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTGACTTCTTGTCCTTCGA	0.537																																						uc002xws.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1507-1509)aAg>aGg		Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.		T	ARG/LYS	0,4406		0,0,2203	252	194	214		1508	5.2	1	20		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	BCAS1	NM_003657.2	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	503/585	52570143	1,13005	2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570143T>C	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1508A>G	20.37:g.52570143T>C	ENSP00000379290:p.Lys503Arg					BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	p.K503R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		10	1846	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		503					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1508A>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.82|19.82	3.898468|3.898468	0.72639|0.72639	0.0|0.0	1.16E-4|1.16E-4	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	T;T;T;T;T|.	0.10860|.	2.83;2.83;2.83;2.83;2.83|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.364375|.	0.26463|.	N|.	0.024228|.	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;0.998;0.998;0.998|.	D;D;D;D;D;D|.	0.87578|.	0.998;0.991;0.998;0.991;0.994;0.994|.	T|T	0.70644|0.70644	-0.4815|-0.4815	10|5	0.12430|.	T|.	0.62|.	-18.8022|-18.8022	12.7642|12.7642	0.57383|0.57383	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	503;169;512;425;503;503|.	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	R|G	374;512;303;503;425;169|166	ENSP00000396361:K374R;ENSP00000360495:K512R;ENSP00000379290:K503R;ENSP00000360490:K425R;ENSP00000409956:K169R|.	ENSP00000360490:K425R|.	K|R	-|-	2|1	0|2	BCAS1|BCAS1	52003550|52003550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.633000|0.633000	0.38033|0.38033	2.278000|2.278000	0.43426|0.43426	1.946000|1.946000	0.56461|0.56461	0.454000|0.454000	0.30748|0.30748	AAG|AGA		0.537	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		C	52570143	T	C	52570143	3	2	126	1	0	0	0	0	1	0	0	0	1350	1609	56	4	254	4	BCAS1	20	52570143	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		52570143	10455377	55	8696											
GRPR	2925	broad.mit.edu	37	chrX	16142166	16142166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtgcggatctccccgtGaacgatgactggtcccaccc	8	7	10	16	3	1	2	0	2	1	0	3	4	2	3	4	2	2	0	4	2	1	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:16142166G>A	ENST00000380289.2	+	1	488	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	30					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ATCTCCCCGTGAACGATGACT	0.478											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cxj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(88-90)gtG>gtA		Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.							195	179	185					X																	16142166		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142166G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.90G>A	X.37:g.16142166G>A			OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.V30V	NM_005314	NP_005305	P30550	GRPR_HUMAN			0	743	+	Hepatocellular(33;0.183)		30					B2R910	Silent	SNP	ENST00000380289.2	37	c.90G>A	CCDS14174.1																																																																																				0.478	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		A	16142166	G	A	16142166	2	1	126	1	0	0	0	0	0	0	0	1	6808	1277	45	3		3	GRPR	23	16142166	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		16142166	139128394	56	8697											
FOXR2	139628	broad.mit.edu	37	chrX	55650332	55650332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaatgcctcagaagaGgagacccagtcctgatggag	13	5	12	11	0	1	5	1	1	0	4	2	7	2	6	4	2	1	0	4	2	2	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:55650332G>C	ENST00000339140.3	+	1	500	c.188G>C	c.(187-189)aGg>aCg	p.R63T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	63					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(187-189)aGg>aCg		Homo sapiens forkhead box R2 (FOXR2), mRNA.							91	82	85					X																	55650332		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650332G>C	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.188G>C	X.37:g.55650332G>C	ENSP00000427329:p.Arg63Thr						p.R63T	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	500	+			63						Missense_Mutation	SNP	ENST00000339140.3	37	c.188G>C	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	5.863	0.343321	0.11069	.	.	ENSG00000189299	ENST00000339140	D	0.94537	-3.45	3.56	-2.1	0.07210	.	20.786600	0.00166	U	0.000005	D	0.89949	0.6863	L	0.40543	1.245	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.75614	-0.3257	10	0.49607	T	0.09	.	2.6927	0.05125	0.3895:0.0:0.2554:0.3551	.	63	Q6PJQ5	FOXR2_HUMAN	T	63	ENSP00000427329:R63T	ENSP00000427329:R63T	R	+	2	0	FOXR2	55667057	0.045000	0.20229	0.000000	0.03702	0.001000	0.01503	0.430000	0.21428	-0.675000	0.05246	-1.168000	0.01747	AGG		0.537	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		C	55650332	G	C	55650332	3	2	126	1	0	0	0	0	1	0	0	0	6032	1000	35	5	190	5	FOXR2	23	55650332	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	39508166	55650332	99620228	57	8698											
MAGEA5	4104	broad.mit.edu	37	chrX	151283896	151283896	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggagaggaggaggaCacagcctcctgctcctcagt	11	5	13	12	0	1	2	1	0	0	2	3	6	3	5	4	4	2	1	4	4	0	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:151283896C>T	ENST00000509345.2	-	0	440																											AGGAGGAGGACACAGCCTCCT	0.647																																						uc004ffj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(115-117)gtG>gtA		Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.							49	49	49					X																	151283896		2203	4300	6503			4104							g.chrX:151283896C>T																													X.37:g.151283896C>T						MAGEA5_uc022cgy.1_Silent_p.V39V	p.V39V	NM_021049	NP_066387	P43359	MAGA5_HUMAN			2	289	-	Acute lymphoblastic leukemia(192;6.56e-05)		39			MAGE.			Silent	SNP	ENST00000509345.2	37	c.117G>A																																																																																					0.647	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			T	151283896	C	T	151283896	1	4	126	0	1	0	0	0	0	0	0	0	9169	465	17	3		3	MAGEA5	23	151283896	RNA	SNP	C	TCGA-14-0740-01B-01D-1845-08	95633564	151283896	3986664	58	8699											
OPN1MW	728458	broad.mit.edu	37	chrX	153490645	153490645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggccaccctatgtgtgtCctggagggctacaccgtctc	5	10	12	14	1	1	0	0	0	1	0	3	1	2	1	4	3	1	1	4	3	2	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:153490645C>T	ENST00000369929.4	+	2	441	c.381C>T	c.(379-381)gtC>gtT	p.V127V	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	127					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTATGTGTGTCCTGGAGGGCT	0.617																																						uc004fkd.3																			0				endometrium(1)|lung(1)	2						c.(379-381)gtC>gtT		Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.							72	42	53					X																	153490645		2004	3544	5548	SO:0001819	synonymous_variant	2652				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153490645C>T		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"GPCR / Class A : Opsin receptors"	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.381C>T	X.37:g.153490645C>T							p.V127V	NM_000513	NP_001041646	P04001	OPSG_HUMAN			1	463	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		127						Silent	SNP	ENST00000369929.4	37	c.381C>T	CCDS35447.1																																																																																				0.617	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		T	153490645	C	T	153490645	2	4	126	1	0	0	0	0	0	0	0	1	10878	842	30	3		3	OPN1MW	23	153490645	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	2206749	153490645	1779915	59	8700											
ASPM	259266	broad.mit.edu	37	chr1	197071366	197071366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagtagactggatgaaagTagcagccctgtgcatctctc	12	9	11	9	0	1	2	0	1	1	1	3	4	1	3	1	1	3	4	1	1	4	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:197071366T>G	ENST00000367409.4	-	18	7271	c.7015A>C	c.(7015-7017)Act>Cct	p.T2339P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2339	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 23. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGATGAAAGTAGCAGCCCTG	0.408																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7015-7017)Act>Cct		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							144	135	138					1																	197071366		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071366T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7015A>C	1.37:g.197071366T>G	ENSP00000356379:p.Thr2339Pro					ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.T187P	p.T2339P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			17	7272	-			2339			IQ 22.|IQ 23.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7015A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	14.43	2.534355	0.45073	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.73152	-0.72	4.35	-1.8	0.07907	.	0.327889	0.24755	N	0.035869	D	0.84520	0.5490	M	0.93328	3.405	0.09310	N	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.937;0.995	T	0.76675	-0.2872	10	0.56958	D	0.05	.	10.6112	0.45423	0.0:0.4523:0.0:0.5477	.	325;2339	E7EQ84;Q8IZT6	.;ASPM_HUMAN	P	2339;325	ENSP00000356379:T2339P	ENSP00000356376:T325P	T	-	1	0	ASPM	195337989	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-0.276000	0.08514	-0.284000	0.09102	0.456000	0.33151	ACT		0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197071366	T	G	197071366	3	3	127	1	0	0	0	0	1	0	0	0	1056	1638	57	5	3462	5	ASPM	1	197071366	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08		197071366	52179255	1	8701											
RRP15	51018	broad.mit.edu	37	chr1	218478415	218478415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgtgcagagtaaagccaGatgttgtccaagacaaagag	15	8	12	6	0	0	5	0	1	0	4	1	5	1	5	2	0	2	3	2	0	4	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:218478415G>A	ENST00000366932.3	+	3	481	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	151						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGTAAAGCCAGATGTTGTCCA	0.363																																						uc001hlj.3																		ACBD6/RRP15(2)	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(451-453)Gat>Aat		Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.							177	189	185					1																	218478415		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218478415G>A		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.451G>A	1.37:g.218478415G>A	ENSP00000355899:p.Asp151Asn						p.D151N	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	2	481	+			151						Missense_Mutation	SNP	ENST00000366932.3	37	c.451G>A	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	36	5.940996	0.97128	.	.	ENSG00000067533	ENST00000366932	T	0.45276	0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	P	0.60117	0.869	T	0.47812	-0.9088	10	0.27082	T	0.32	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	151	Q9Y3B9	RRP15_HUMAN	N	151	ENSP00000355899:D151N	ENSP00000355899:D151N	D	+	1	0	RRP15	216545038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	GAT		0.363	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		A	218478415	G	A	218478415	3	1	127	1	0	0	0	0	1	0	0	0	13687	942	33	3	461	3	RRP15	1	218478415	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	21407049	218478415	30772206	2	8702											
APOB	338	broad.mit.edu	37	chr2	21238335	21238335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcaggcgaccagtgggCgaggatctcacttctggctt	6	11	14	10	2	2	0	1	0	2	0	3	3	2	1	1	5	0	2	1	5	0	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:21238335C>T	ENST00000233242.1	-	22	3542	c.3415G>A	c.(3415-3417)Gcc>Acc	p.A1139T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1139					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAGTGGGCGAGGATCTCA	0.463																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3415-3417)Gcc>Acc		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						147	132	137					2																	21238335		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238335C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3415G>A	2.37:g.21238335C>T	ENSP00000233242:p.Ala1139Thr						p.A1139T	NM_000384	NP_000375	P04114	APOB_HUMAN			21	3543	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1139					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3415G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.274411	0.01421	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.49	-1.69	0.08186	.	0.816526	0.11095	N	0.600300	T	0.00241	0.0007	N	0.00237	-1.79	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	10	0.08599	T	0.76	.	4.3526	0.11163	0.2627:0.4025:0.0:0.3348	.	1139	P04114	APOB_HUMAN	T	1139	ENSP00000233242:A1139T	ENSP00000233242:A1139T	A	-	1	0	APOB	21091840	0.002000	0.14202	0.014000	0.15608	0.062000	0.15995	-0.224000	0.09164	0.117000	0.18138	-0.290000	0.09829	GCC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21238335	C	T	21238335	3	4	127	1	0	0	0	0	1	0	0	0	785	768	27	1	10308	1	APOB	2	21238335	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		21238335	221961038	3	8703											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483659	202483659	+	Frame_Shift_Del	DEL	G	G	-																															ccggtgccctcctggttcttGttcttaggcagggccgtcgt																										TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:202483659delG	ENST00000286195.3	-	1	239	c.195delC	c.(193-195)aacfs	p.N65fs	ALS2CR11_ENST00000439802.1_Frame_Shift_Del_p.N65fs|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.N65fs|ALS2CR11_ENST00000450242.1_Frame_Shift_Del_p.N65fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	65										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTGGTTCTTGTTCTTAGGCA	0.657																																						uc002uyf.3																			0		p.K64N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(193-195)aacfs		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.							43	43	43					2																	202483659		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202483659delG	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.195delC	2.37:g.202483659delG	ENSP00000286195:p.Asn65fs					ALS2CR11_uc002uye.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc021vvc.1_Frame_Shift_Del_p.N65fs	p.N65fs	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN			0	247	-			65					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.195delC	CCDS2349.1																																																																																				0.657	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		-	202483659	G	-	202483659	7	5	127	1	0	1	0	1	0	0	0	0	552	1368	48	0	5478	0	ALS2CR11	2	202483659	Frame_Shift_Del	DEL	G	TCGA-14-0781-01B-01D-1696-08	181245324	202483659	40715714	4	8704											
UNC5C	8633	broad.mit.edu	37	chr4	96127874	96127874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagtgaggacgactgggcGggtgagcagagctcctgggg	8	6	19	8	2	0	3	0	2	0	1	1	5	1	4	1	5	2	2	1	5	1	1	rs139568380	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr4:96127874G>A	ENST00000453304.1	-	11	2155	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	603	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.R603S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582													G|||	2	0.000399361	0	0	5008	,	,		14748	0		0.002	False		,,,				2504	0					uc003hto.3																			1	Substitution - Missense(1)	p.R603S(2)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1807-1809)Cgc>Tgc		Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	68	63	65		1807	5.3	1	4	dbSNP_134	65	18,8582	12.6+/-44.7	0,18,4282	no	missense	UNC5C	NM_003728.3	180	0,20,6483	AA,AG,GG		0.2093,0.0454,0.1538	probably-damaging	603/932	96127874	20,12986	2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96127874G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1807C>T	4.37:g.96127874G>A	ENSP00000406022:p.Arg603Cys					UNC5C_uc010ilc.2_Missense_Mutation_p.R622C	p.R603C	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	10	2160	-		Hepatocellular(203;0.114)	603			ZU5.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1807C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753488	0.49362	4.54E-4	0.002093	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.45668	0.89;0.89	5.28	5.28	0.74379	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.975	T	0.61589	-0.7032	10	0.45353	T	0.12	.	19.2637	0.93979	0.0:0.0:1.0:0.0	.	603;603	A8K385;O95185	.;UNC5C_HUMAN	C	603;562;622	ENSP00000406022:R603C;ENSP00000426924:R622C	ENSP00000328673:R562C	R	-	1	0	UNC5C	96346897	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.829000	0.62737	2.611000	0.88343	0.563000	0.77884	CGC		0.582	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		A	96127874	G	A	96127874	3	1	127	1	0	0	0	0	1	0	0	0	16990	1116	39	2	1012	2	UNC5C	4	96127874	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		96127874	95026402	5	8705											
AHRR	57491	broad.mit.edu	37	chr5	422882	422882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatttatgactacatccaCgtggacgaccgccaggactt	12	9	8	12	3	0	1	0	1	0	0	1	4	1	3	3	2	2	0	3	2	3	4	rs2671894	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:422882C>T	ENST00000505113.1	+	6	536	c.492C>T	c.(490-492)caC>caT	p.H164H	AHRR_ENST00000512529.1_Silent_p.H10H|AHRR_ENST00000316418.5_Silent_p.H164H|AHRR_ENST00000506456.1_Silent_p.H20H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	164	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACTACATCCACGTGGACGACC	0.547													C|||	5	0.000998403	0.0038	0	5008	,	,		19057	0		0	False		,,,				2504	0					uc003jav.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(490-492)caC>caT		Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.		C	,	37,3935		0,37,1949	74	82	80		492,492	-4.3	1	5	dbSNP_100	80	0,8300		0,0,4150	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,37,6099	TT,TC,CC		0.0,0.9315,0.3015	,	164/702,164/720	422882	37,12235	1986	4150	6136	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422882C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.492C>T	5.37:g.422882C>T						AHRR_uc003jaw.3_Silent_p.H164H|AHRR_uc010isy.3_Silent_p.H10H|AHRR_uc010isz.3_Silent_p.H160H|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.H20H	p.H164H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	535	+			164			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.492C>T	CCDS56355.1																																																																																				0.547	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		T	422882	C	T	422882	2	4	127	1	0	0	0	0	0	0	0	1	417	535	19	1		1	AHRR	5	422882	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		422882	180492378	6	8706											
CARD6	84674	broad.mit.edu	37	chr5	40853877	40853877	+	Frame_Shift_Del	DEL	T	T	-																															gatgtcactcgaatggaacaTttgggagactgccaagaccc																										TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:40853877delT	ENST00000254691.5	+	3	2642	c.2443delT	c.(2443-2445)tttfs	p.F815fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	815					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGGAACATTTGGGAGACT	0.453																																						uc003jmg.3																			0		p.T814K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2443-2445)tttfs		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							247	260	256					5																	40853877		2203	4300	6503	SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853877delT	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2443delT	5.37:g.40853877delT	ENSP00000254691:p.Phe815fs						p.F815fs	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	2518	+			815					Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	c.2443delT	CCDS3935.1																																																																																				0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			-	40853877	T	-	40853877	7	5	127	1	0	1	0	1	0	0	0	0	2650	1493	52	0	2453	0	CARD6	5	40853877	Frame_Shift_Del	DEL	T	TCGA-14-0781-01B-01D-1696-08	40430995	40853877	140061383	7	8707											
HCN1	348980	broad.mit.edu	37	chr5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccggggaccgccgtcaCgggttgagggatggaggcca	6	6	18	11	5	1	1	1	1	0	0	2	4	2	4	4	6	0	2	4	6	0	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	819					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2455-2457)Gtg>Atg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							31	33	32					5																	45262241		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262241C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2455G>A	5.37:g.45262241C>T	ENSP00000307342:p.Val819Met						p.V819M	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2480	-			819						Missense_Mutation	SNP	ENST00000303230.4	37	c.2455G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095427	0.07010	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.02	3.2	0.36748	.	0.562530	0.16681	N	0.203943	D	0.91851	0.7421	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	D	0.85041	0.0923	10	0.62326	D	0.03	.	6.1826	0.20480	0.0:0.6436:0.1339:0.2225	.	819	O60741	HCN1_HUMAN	M	819	ENSP00000307342:V819M	ENSP00000307342:V819M	V	-	1	0	HCN1	45297998	0.033000	0.19621	0.118000	0.21660	0.722000	0.41435	1.321000	0.33678	0.596000	0.29794	0.655000	0.94253	GTG		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262241	C	T	45262241	3	4	127	1	0	0	0	0	1	0	0	0	6996	536	19	1	221	1	HCN1	5	45262241	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	4408364	45262241	135653019	8	8708											
DMGDH	29958	broad.mit.edu	37	chr5	78326739	78326739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgccaaatggtgataGgtcagttaccgctactcttt	11	13	8	9	1	2	1	1	1	1	0	2	1	2	1	2	2	4	2	2	2	5	5	rs369682083		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:78326739G>T	ENST00000255189.3	-	10	1628	c.1600C>A	c.(1600-1602)Cta>Ata	p.L534I	DMGDH_ENST00000380311.4_Missense_Mutation_p.L333I|DMGDH_ENST00000540686.1_Missense_Mutation_p.L154I	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	534					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AATGGTGATAGGTCAGTTACC	0.433																																						uc003kfs.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1600-1602)Cta>Ata		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							142	133	136					5																	78326739		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78326739G>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1600C>A	5.37:g.78326739G>T	ENSP00000255189:p.Leu534Ile					DMGDH_uc011cte.1_Missense_Mutation_p.L384I|DMGDH_uc011ctf.1_Missense_Mutation_p.L333I|DMGDH_uc011ctg.1_Missense_Mutation_p.L154I	p.L534I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	9	1606	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	534					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1600C>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593893	0.86953	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.86	5.86	0.93980	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	L	0.47078	1.49	0.80722	D	1	D;D;P;B	0.65815	0.995;0.957;0.507;0.359	P;P;B;B	0.61397	0.888;0.828;0.288;0.3	T	0.72643	-0.4231	10	0.10902	T	0.67	.	20.1931	0.98233	0.0:0.0:1.0:0.0	.	154;333;384;534	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	I	534;373;333;154;384	ENSP00000255189:L534I;ENSP00000430972:L373I;ENSP00000369667:L333I;ENSP00000439478:L154I	ENSP00000255189:L534I	L	-	1	2	DMGDH	78362495	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	6.662000	0.74426	2.771000	0.95319	0.563000	0.77884	CTA		0.433	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		T	78326739	G	T	78326739	3	4	127	1	0	0	0	0	1	0	0	0	4581	991	35	5	1028	5	DMGDH	5	78326739	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	33064498	78326739	102588521	9	8709											
GCNT2	2651	broad.mit.edu	37	chr6	10529185	10529186	+	Frame_Shift_Del	DEL	TT	TT	-																															ctgtctttttagcgcgtctcTtatctctgccctgatttttg																										TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:10529185_10529186delTT	ENST00000379597.3	+	1	597_598	c.41_42delTT	c.(40-42)cttfs	p.L14fs	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Frame_Shift_Del_p.L14fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	14					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGCGCGTCTCTTATCTCTGCCC	0.401																																						uc010joo.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(40-42)cttfs		Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529185_10529186delTT	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.41_42delTT	6.37:g.10529185_10529186delTT	ENSP00000368917:p.Leu14fs					GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L13fs	p.L14fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	2	592_593	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	14						Frame_Shift_Del	DEL	ENST00000379597.3	37	c.41_42delTT	CCDS34338.1																																																																																				0.401	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		-	10529186	TT	-	10529185	7	5	127	1	0	1	0	1	0	0	0	0	6301	1609	56	0	43	0	GCNT2	6	10529185	Frame_Shift_Del	DEL	TT	TCGA-14-0781-01B-01D-1696-08		10529185	160585882	10	8710											
LAMA2	3908	broad.mit.edu	37	chr6	129823804	129823804	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctcctgggtattttacagGgtccttgtgctgcagaatca	7	14	10	10	0	2	1	1	0	1	1	4	1	3	1	2	2	3	3	2	2	3	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:129823804G>A	ENST00000421865.2	+	59	8294	c.8245G>A	c.(8245-8247)Ggt>Agt	p.G2749S	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2749					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTTACAGGGTCCTTGTGC	0.388																																						uc021zfb.1																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e59-1		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							70	70	70					6																	129823804		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129823804G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8245-1G>A	6.37:g.129823804G>A						LAMA2_uc003qbn.3_Splice_Site_p.G2747_splice|LAMA2_uc003qbo.3_Splice_Site_p.G2743_splice|BC035400_uc003qbq.3_Non-coding_Transcript	p.G2749_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	59	8350	+			2749					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8245_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006607	0.74932	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.34072	1.38	6.17	6.17	0.99709	.	0.147482	0.64402	D	0.000009	T	0.24431	0.0592	L	0.60455	1.87	0.54753	D	0.999988	P;P	0.37423	0.594;0.594	B;B	0.29524	0.103;0.103	T	0.04621	-1.0938	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2750;2749	A6NF00;P24043	.;LAMA2_HUMAN	S	2749;2748;2749;767	ENSP00000400365:G2749S	.	G	+	1	0	LAMA2	129865497	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.167000	0.89668	2.941000	0.99782	0.655000	0.94253	GGT		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation	A	129823804	G	A	129823804	5	1	127	1	0	0	0	0	0	0	1	0	8606	1246	43	3	8479	3	LAMA2	6	129823804	Splice_Site	SNP	G	TCGA-14-0781-01B-01D-1696-08	119294619	129823804	41291263	11	8711											
PHACTR2	9749	broad.mit.edu	37	chr6	144086812	144086812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagttgtcctcgtcagcgTtggagctgacctgcccgtct	4	12	11	14	3	2	1	1	1	1	0	5	2	4	2	4	1	3	3	4	1	0	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:144086812T>C	ENST00000427704.2	+	6	1206	c.1076T>C	c.(1075-1077)gTt>gCt	p.V359A	PHACTR2_ENST00000305766.6_Missense_Mutation_p.V279A|PHACTR2_ENST00000440869.2_Missense_Mutation_p.V370A|PHACTR2_ENST00000367584.4_Missense_Mutation_p.V347A|PHACTR2_ENST00000367582.3_Missense_Mutation_p.V290A	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	359							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCGTCAGCGTTGGAGCTGAC	0.582																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc010khi.3																			0		p.I369I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1108-1110)gTt>gCt		Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.							75	76	76					6																	144086812		2002	4162	6164	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086812T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1076T>C	6.37:g.144086812T>C	ENSP00000391763:p.Val359Ala					PHACTR2_uc003qjq.4_Missense_Mutation_p.V359A|PHACTR2_uc010khh.3_Missense_Mutation_p.V279A|PHACTR2_uc003qjr.4_Missense_Mutation_p.V290A	p.V370A	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	1308	+			359					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1109T>C	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276904	0.23307	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.28895	1.59;2.05;1.62;2.05;1.62	5.22	-1.3	0.09259	.	2.578880	0.01155	N	0.006518	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.002;0.001	B;B;B;B	0.06405	0.0;0.002;0.002;0.001	T	0.13818	-1.0495	10	0.08837	T	0.75	.	2.5727	0.04798	0.2808:0.1324:0.4245:0.1623	.	370;279;290;359	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	A	347;359;279;370;290	ENSP00000356556:V347A;ENSP00000391763:V359A;ENSP00000305530:V279A;ENSP00000417038:V370A;ENSP00000356554:V290A	ENSP00000305530:V279A	V	+	2	0	PHACTR2	144128505	0.000000	0.05858	0.001000	0.08648	0.879000	0.50718	-0.308000	0.08156	-0.211000	0.10124	0.533000	0.62120	GTT		0.582	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		C	144086812	T	C	144086812	3	2	127	1	0	0	0	0	1	0	0	0	11810	1725	60	4	1148	4	PHACTR2	6	144086812	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08	14263008	144086812	27028255	12	8712											
SERAC1	84947	broad.mit.edu	37	chr6	158579375	158579375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttctgcaacagatgacGcaataagcagccagggacat	14	8	9	10	1	2	2	0	1	2	1	2	3	2	3	1	1	4	3	1	1	3	3	rs139301835	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:158579375G>A	ENST00000367104.3	-	2	152	c.21C>T	c.(19-21)tgC>tgT	p.C7C	SERAC1_ENST00000367101.1_Silent_p.C7C|SERAC1_ENST00000607000.1_Silent_p.C7C|SERAC1_ENST00000367102.2_Silent_p.C7C	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	7					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AACAGATGACGCAATAAGCAG	0.363																																						uc003qrc.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(19-21)tgC>tgT		Homo sapiens serine active site containing 1 (SERAC1), mRNA.							110	108	108					6																	158579375		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158579375G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.21C>T	6.37:g.158579375G>A						SERAC1_uc003qrb.2_5'UTR	p.C7C	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	1	163	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	7					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.21C>T	CCDS5255.1																																																																																				0.363	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		A	158579375	G	A	158579375	2	1	127	1	0	0	0	0	0	0	0	1	14074	1079	38	1		1	SERAC1	6	158579375	Silent	SNP	G	TCGA-14-0781-01B-01D-1696-08	14492563	158579375	12535692	13	8713											
PCLO	27445	broad.mit.edu	37	chr7	82579939	82579939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaagcagttccagaaGggtcatagttatactggtag	12	10	14	5	0	1	2	1	0	0	2	2	3	2	2	1	3	2	4	1	3	6	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:82579939G>T	ENST00000333891.9	-	6	10302	c.9965C>A	c.(9964-9966)cCt>cAt	p.P3322H	PCLO_ENST00000423517.2_Missense_Mutation_p.P3322H|PCLO_ENST00000437081.1_Missense_Mutation_p.P42H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTCCAGAAGGGTCATAGTT	0.478																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9964-9966)cCt>cAt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							135	124	128					7																	82579939		1940	4154	6094	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579939G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9965C>A	7.37:g.82579939G>T	ENSP00000334319:p.Pro3322His					PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.3_Missense_Mutation_p.P287H	p.P3322H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	10254	-			3253						Missense_Mutation	SNP	ENST00000333891.9	37	c.9965C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664146	0.47572	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35421	2.07;2.07;1.31	5.29	5.29	0.74685	.	.	.	.	.	T	0.60919	0.2306	M	0.65498	2.005	0.43994	D	0.996697	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.936;0.98;0.988	T	0.63449	-0.6635	9	0.87932	D	0	.	19.2834	0.94061	0.0:0.0:1.0:0.0	.	3253;3322;3322	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	3253;3322;3322;42	ENSP00000334319:P3322H;ENSP00000388393:P3322H;ENSP00000393760:P42H	ENSP00000334319:P3322H	P	-	2	0	PCLO	82417875	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.145000	0.77365	2.634000	0.89283	0.563000	0.77884	CCT		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82579939	G	T	82579939	3	4	127	1	0	0	0	0	1	0	0	0	11583	1000	35	5	5560	5	PCLO	7	82579939	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		82579939	76558724	14	8714											
EPHB4	2050	broad.mit.edu	37	chr7	100411279	100411279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attagggcaacccaccatgtCcgatgagatactgtccgtgt	10	10	10	11	2	0	1	0	1	0	1	2	3	2	1	4	1	2	1	4	1	3	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:100411279C>T	ENST00000358173.3	-	10	2219	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.G584E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	584					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCACCATGTCCGATGAGATA	0.522																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			0		p.I583I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1750-1752)gGa>gAa		Homo sapiens EPH receptor B4 (EPHB4), mRNA.							382	362	369					7																	100411279		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100411279C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1751G>A	7.37:g.100411279C>T	ENSP00000350896:p.Gly584Glu					EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	p.G584E	NM_004444	NP_004435	P54760	EPHB4_HUMAN			9	2242	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		584					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1751G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500763	0.64298	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.11277	2.79;2.79	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000036	T	0.30262	0.0759	M	0.72479	2.2	0.53688	D	0.999971	D;D	0.76494	0.999;0.998	D;P	0.66084	0.941;0.907	T	0.01065	-1.1463	10	0.30854	T	0.27	.	16.3274	0.82990	0.0:1.0:0.0:0.0	.	584;584	Q96L35;P54760	.;EPHB4_HUMAN	E	584	ENSP00000353833:G584E;ENSP00000350896:G584E	ENSP00000350896:G584E	G	-	2	0	EPHB4	100249215	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	6.089000	0.71384	2.451000	0.82905	0.561000	0.74099	GGA		0.522	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		T	100411279	C	T	100411279	3	4	127	1	0	0	0	0	1	0	0	0	5177	855	30	3	1244	3	EPHB4	7	100411279	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	17831340	100411279	58727384	15	8715											
CADPS2	93664	broad.mit.edu	37	chr7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcctctactgttaaaCgtctgtgcacagtatcataa	10	13	7	11	1	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	5	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:121960313C>T	ENST00000449022.2	-	30	3816	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_ENST00000412584.2_Missense_Mutation_p.R1225H|CADPS2_ENST00000334010.7_Missense_Mutation_p.R1264H|CADPS2_ENST00000313070.7_Missense_Mutation_p.R1225H	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1266					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTGTTAAACGTCTGTGCAC	0.433																																						uc022akp.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(3796-3798)cGt>cAt		Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.							188	178	181					7																	121960313		1913	4121	6034	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121960313C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3797G>A	7.37:g.121960313C>T	ENSP00000398481:p.Arg1266His					CADPS2_uc003vkg.4_Missense_Mutation_p.R920H|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R1225H|CADPS2_uc022akr.1_Missense_Mutation_p.R1266H	p.R1266H	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN			28	4219	-			1266					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3797G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.308018|5.308018	0.95629|0.95629	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83193|0.83193	0.5201|0.5201	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.992;1.0;0.991;0.994|.	D|D	0.84139|0.84139	0.0416|0.0416	10|5	0.87932|.	D|.	0|.	-10.5465|-10.5465	19.6777|19.6777	0.95943|0.95943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1270;1225;1266;1220|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	H|I	439;1225;1264;1271;1192;1225;1266|460	ENSP00000325581:R1225H;ENSP00000333940:R1264H;ENSP00000400401:R1225H;ENSP00000398481:R1266H|.	ENSP00000325581:R1225H|.	R|V	-|-	2|1	0|0	CADPS2|CADPS2	121747549|121747549	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.433	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		T	121960313	C	T	121960313	3	4	127	1	0	0	0	0	1	0	0	0	2571	536	19	1	97	1	CADPS2	7	121960313	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	21549034	121960313	37178350	16	8716											
FREM1	158326	broad.mit.edu	37	chr9	14824887	14824887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgtagctgtttcttaGttatataggccacctcagtt	11	16	7	7	0	2	0	1	0	1	0	2	0	2	0	2	1	1	5	2	1	7	8	rs376703044		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:14824887G>C	ENST00000380880.3	-	11	2768	c.1985C>G	c.(1984-1986)aCt>aGt	p.T662S	FREM1_ENST00000422223.2_Missense_Mutation_p.T662S|FREM1_ENST00000380881.4_Missense_Mutation_p.T663S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	662					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTTTCTTAGTTATATAGGC	0.428																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1984-1986)aCt>aGt		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.		G	SER/THR	1,3673		0,1,1836	83	78	79		1985	5	1	9		79	0,8168		0,0,4084	no	missense	FREM1	NM_144966.5	58	0,1,5920	CC,CG,GG		0.0,0.0272,0.0084	probably-damaging	662/2180	14824887	1,11841	1837	4084	5921	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824887G>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1985C>G	9.37:g.14824887G>C	ENSP00000370262:p.Thr662Ser					FREM1_uc010mic.3_Non-coding_Transcript	p.T662S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2801	-			662					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1985C>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466436	0.84425	2.72E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.47869	0.83;0.83;0.83	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.72353	2.195	0.54753	D	0.999989	D	0.63880	0.993	D	0.64776	0.929	T	0.56896	-0.7903	10	0.13470	T	0.59	-15.2501	17.2178	0.86949	0.0:0.1253:0.8747:0.0	.	662	Q5H8C1	FREM1_HUMAN	S	663;662;662	ENSP00000370263:T663S;ENSP00000412940:T662S;ENSP00000370262:T662S	ENSP00000370257:T665S	T	-	2	0	FREM1	14814887	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.632000	0.83247	2.809000	0.96659	0.655000	0.94253	ACT		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14824887	G	C	14824887	3	2	127	1	0	0	0	0	1	0	0	0	6044	1029	36	5	4712	5	FREM1	9	14824887	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		14824887	126388544	17	8717											
CRB2	286204	broad.mit.edu	37	chr9	126136965	126136965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcctggagggtcttgCtggccagaggtgggtctggg	4	9	19	9	0	2	1	0	0	2	1	2	2	2	2	2	6	3	2	2	6	0	1	rs368751851		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:126136965C>T	ENST00000373631.3	+	11	3498	c.3497C>T	c.(3496-3498)gCt>gTt	p.A1166V	CRB2_ENST00000373629.2_Missense_Mutation_p.A834V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1166	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGGTCTTGCTGGCCAGAGG	0.657																																						uc004bnx.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3496-3498)gCt>gTt		Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.							36	33	34					9																	126136965		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136965C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3497C>T	9.37:g.126136965C>T	ENSP00000362734:p.Ala1166Val						p.A1166V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			10	3589	+			1166			EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.3497C>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	17.08	3.297281	0.60086	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.90324	-1.89;-2.65	5.22	4.32	0.51571	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.157098	0.29964	N	0.010745	D	0.84687	0.5527	L	0.47716	1.5	0.33263	D	0.559979	B	0.30741	0.293	B	0.22753	0.041	D	0.84563	0.0651	10	0.33141	T	0.24	.	9.4183	0.38534	0.0:0.7807:0.1434:0.0759	.	1166	Q5IJ48	CRUM2_HUMAN	V	1166;834	ENSP00000362734:A1166V;ENSP00000362732:A834V	ENSP00000362732:A834V	A	+	2	0	CRB2	125176786	0.964000	0.33143	0.961000	0.40146	0.856000	0.48823	1.865000	0.39479	1.196000	0.43129	0.561000	0.74099	GCT		0.657	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		T	126136965	C	T	126136965	3	4	127	1	0	0	0	0	1	0	0	0	3849	797	28	3	3539	3	CRB2	9	126136965	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	111312078	126136965	15076466	18	8718											
PTEN	5728	broad.mit.edu	37	chr10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagtaactattcccaGtcagaggcgctatgtgtatt	10	11	11	9	1	1	1	1	0	0	1	2	2	2	2	2	2	1	3	2	2	4	6			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		65	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(9)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)	central_nervous_system(18)|prostate(16)|skin(8)|endometrium(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(508-510)aGt>aAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							121	124	123					10																	89711891		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711891G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.509G>A	10.37:g.89711891G>A	ENSP00000361021:p.Ser170Asn	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.S170N	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1541	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	170		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.509G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140552	0.94560	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98342	1.0539	9	.	.	.	-3.8658	19.9308	0.97118	0.0:0.0:1.0:0.0	.	170	P60484	PTEN_HUMAN	N	170	ENSP00000361021:S170N	.	S	+	2	0	PTEN	89701871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89711891	G	A	89711891	3	1	127	1	0	0	0	0	1	0	0	0	12738	1029	36	3	531	3	PTEN	10	89711891	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		89711891	45822856	19	8719											
SLC22A10	387775	broad.mit.edu	37	chr11	63069908	63069908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgtcgctctcatagttcGatgtcttgctcttttgacac	6	16	8	11	2	3	1	1	1	3	0	6	2	3	1	0	0	2	4	0	0	1	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:63069908G>A	ENST00000332793.6	+	7	1180	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	393						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTCATAGTTCGATGTCTTGCT	0.438																																						uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1177-1179)cGa>cAa		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							176	155	161					11																	63069908		1899	4108	6007	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63069908G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1178G>A	11.37:g.63069908G>A	ENSP00000327569:p.Arg393Gln					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	p.R393Q	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			6	1386	+			393					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1178G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290221	0.23478	.	.	ENSG00000184999	ENST00000332793	T	0.73897	-0.79	3.62	-6.1	0.02138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.071597	0.53938	U	0.000048	T	0.63200	0.2491	M	0.86028	2.79	0.09310	N	1	B	0.29646	0.253	B	0.23150	0.044	T	0.52472	-0.8571	9	.	.	.	.	2.0761	0.03624	0.5067:0.1364:0.2192:0.1377	.	393	Q63ZE4	S22AA_HUMAN	Q	393	ENSP00000327569:R393Q	.	R	+	2	0	SLC22A10	62826484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.906000	0.04071	-1.271000	0.02430	-0.315000	0.08773	CGA		0.438	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		A	63069908	G	A	63069908	3	1	127	1	0	0	0	0	1	0	0	0	14441	1058	37	2	1204	2	SLC22A10	11	63069908	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		63069908	71936608	20	8720											
NAALADL1	10004	broad.mit.edu	37	chr11	64821985	64821985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaattgggggaaatcCggagacattggcaaggtcca	12	8	15	6	1	0	1	0	0	0	1	2	4	2	3	2	6	0	2	2	6	4	3	rs138766443		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:64821985C>T	ENST00000358658.3	-	5	856	c.829G>A	c.(829-831)Gga>Aga	p.G277R	NAALADL1_ENST00000339885.2_Missense_Mutation_p.G277R|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G277R|NAALADL1_ENST00000340252.4_Missense_Mutation_p.G277R|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G236R|NAALADL1_ENST00000356632.3_Missense_Mutation_p.G277R	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	277	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGGGAAATCCGGAGACATTG	0.597																																						uc001ocn.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(829-831)Gga>Aga		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.		C	ARG/GLY	1,4401	2.1+/-5.4	0,1,2200	46	41	43		829	4.7	0.9	11	dbSNP_134	43	1,8593	1.2+/-3.3	0,1,4296	no	missense	NAALADL1	NM_005468.2	125	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	277/741	64821985	2,12994	2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64821985C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.829G>A	11.37:g.64821985C>T	ENSP00000351484:p.Gly277Arg					NAALADL1_uc010rnw.2_5'UTR	p.G277R	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			4	845	-			277			NAALADase.		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.829G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647024	0.87958	2.27E-4	1.16E-4	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.7	4.7	0.59300	.	0.057776	0.64402	D	0.000002	T	0.53174	0.1780	M	0.74647	2.275	0.58432	D	0.999996	D	0.60575	0.988	P	0.51170	0.661	T	0.60591	-0.7233	10	0.87932	D	0	-7.9788	13.0267	0.58819	0.0:1.0:0.0:0.0	.	277	Q9UQQ1	NALDL_HUMAN	R	277;277;277;277;277;236;277	ENSP00000351484:G277R;ENSP00000347530:G277R;ENSP00000340111:G277R;ENSP00000344244:G277R;ENSP00000347955:G236R;ENSP00000349045:G277R	ENSP00000340111:G277R	G	-	1	0	NAALADL1	64578561	1.000000	0.71417	0.910000	0.35882	0.923000	0.55619	4.194000	0.58393	2.451000	0.82905	0.655000	0.94253	GGA		0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		T	64821985	C	T	64821985	3	4	127	1	0	0	0	0	1	0	0	0	10129	661	23	2	1449	2	NAALADL1	11	64821985	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	1752077	64821985	70184531	21	8721											
UNC93B1	81622	broad.mit.edu	37	chr11	67765220	67765220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttccgctccgcgggagcgtCcgcagaaccgtcttgttgaa	6	10	12	13	6	1	2	0	1	1	1	4	3	4	3	4	1	2	3	4	1	2	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:67765220C>T	ENST00000227471.2	-	7	910	c.831G>A	c.(829-831)cgG>cgA	p.R277R	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GCGGGAGCGTCCGCAGAACCG	0.652																																						uc001omw.1																			0											c.(829-831)cgG>cgA		Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.							30	39	36					11																	67765220		2054	4200	6254	SO:0001819	synonymous_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67765220C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.831G>A	11.37:g.67765220C>T							p.R277R	NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN			6	911	-			277					O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37	c.831G>A																																																																																					0.652	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		T	67765220	C	T	67765220	2	4	127	1	0	0	0	0	0	0	0	1	16994	842	30	3		3	UNC93B1	11	67765220	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	2943235	67765220	67241296	22	8722											
MMP10	4319	broad.mit.edu	37	chr11	102646042	102646042	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttccagtgggatcttcGccaaaaatatctgtaataca	13	11	9	8	1	2	0	0	0	2	0	4	1	3	1	2	2	1	2	2	2	5	5	rs150825082		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:102646042G>A	ENST00000279441.4	-	7	979	c.943C>T	c.(943-945)Cga>Tga	p.R315*		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	315					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGGGATCTTCGCCAAAAATAT	0.333													G|||	1	0.000199681	0	0	5008	,	,		16201	0.001		0	False		,,,				2504	0					uc001phg.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(943-945)Cga>Tga		Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.		G	stop/ARG	4,4402	8.1+/-20.4	0,4,2199	62	64	63		943	3.3	1	11	dbSNP_134	63	0,8598		0,0,4299	yes	stop-gained	MMP10	NM_002425.2		0,4,6498	AA,AG,GG		0.0,0.0908,0.0308		315/477	102646042	4,13000	2203	4299	6502	SO:0001587	stop_gained	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102646042G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.943C>T	11.37:g.102646042G>A	ENSP00000279441:p.Arg315*						p.R315*	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	6	980	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	315			Hemopexin-like 1.		B2R9X9|Q53HH9	Nonsense_Mutation	SNP	ENST00000279441.4	37	c.943C>T	CCDS8321.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.03	3.747313	0.69533	9.08E-4	0.0	ENSG00000166670	ENST00000279441	.	.	.	4.2	3.28	0.37604	.	0.000000	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3538	0.32318	0.0826:0.0:0.7636:0.1537	.	.	.	.	X	315	.	ENSP00000279441:R315X	R	-	1	2	MMP10	102151252	1.000000	0.71417	0.968000	0.41197	0.289000	0.27227	3.442000	0.52900	1.119000	0.41883	0.644000	0.83932	CGA		0.333	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			A	102646042	G	A	102646042	4	1	127	1	0	0	0	0	0	1	0	0	9649	1095	38	1	503	1	MMP10	11	102646042	Nonsense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	34880822	102646042	32360474	23	8723											
KCNA1	3736	broad.mit.edu	37	chr12	5020794	5020794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgagtacttcttcgacCgcaaccggcccagcttcgac	9	7	10	15	5	1	0	0	0	1	0	3	4	1	1	3	2	4	3	3	2	3	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:5020794C>T	ENST00000382545.3	+	2	1357	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	84					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTTCTTCGACCGCAACCGGCC	0.627																																						uc001qnh.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(250-252)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64	66	65					12																	5020794		2203	4298	6501	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020794C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.250C>T	12.37:g.5020794C>T	ENSP00000371985:p.Arg84Cys					KCNA1_uc021qts.1_Missense_Mutation_p.R84C	p.R84C	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			1	1355	+			84					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.250C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971294	0.53614	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.90324	-2.65	4.34	4.34	0.51931	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98063	1.0394	10	0.87932	D	0	.	13.158	0.59529	0.1598:0.8402:0.0:0.0	.	84	Q09470	KCNA1_HUMAN	C	84	ENSP00000371985:R84C	ENSP00000228858:R84C	R	+	1	0	KCNA1	4891055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.650000	0.46665	2.410000	0.81850	0.650000	0.86243	CGC		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5020794	C	T	5020794	3	4	127	1	0	0	0	0	1	0	0	0	8001	652	23	2	252	2	KCNA1	12	5020794	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		5020794	128831101	24	8724											
C12orf63	144535	broad.mit.edu	37	chr12	97085019	97085019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatagatacagggctgaCatttgctctgtaattgcaag	12	12	10	7	0	2	3	1	1	1	2	2	3	2	3	0	1	3	4	0	1	4	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:97085019C>T	ENST00000524981.4	+	44	6218	c.6195C>T	c.(6193-6195)gaC>gaT	p.D2065D				Q96N23	CL055_HUMAN		0																	ACAGGGCTGACATTTGCTCTG	0.358																																						uc021rcc.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1468-1470)gaC>gaT		RecName: Full=Putative uncharacterized protein C12orf63;							124	111	115					12																	97085019		2203	4300	6503	SO:0001819	synonymous_variant	374467							g.chr12:97085019C>T																												ENST00000524981.4:c.6195C>T	12.37:g.97085019C>T							p.D490D			Q6ZTY8	CL063_HUMAN			10	1548	+			490						Silent	SNP	ENST00000524981.4	37	c.1470C>T																																																																																					0.358	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			T	97085019	C	T	97085019	2	4	127	1	0	0	0	0	0	0	0	1	1706	477	17	3		3	C12orf63	12	97085019	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	92064225	97085019	36766876	25	8725											
PCDH20	64881	broad.mit.edu	37	chr13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcaccacagagagggcgaCccatccatttcgtccagcgt	9	8	10	14	3	1	1	1	0	0	1	4	3	3	1	4	1	1	1	4	1	0	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr13:61986212C>G	ENST00000409186.1	-	5	4125	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V674L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	674	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458																																						uc001vid.4																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2020-2022)Gtc>Ctc		Homo sapiens protocadherin 20 (PCDH20), mRNA.							89	88	89					13																	61986212		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986212C>G	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2020G>C	13.37:g.61986212C>G	ENSP00000386653:p.Val674Leu					PCDH20_uc010thj.2_Missense_Mutation_p.V674L	p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2384	-		Breast(118;0.195)|Prostate(109;0.229)	647			Cadherin 5.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2020G>C	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376298	0.42105	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.02916	4.11;4.11	5.94	5.94	0.96194	.	0.000000	0.53938	D	0.000041	T	0.03827	0.0108	L	0.50993	1.605	0.80722	D	1	P	0.38617	0.64	B	0.36567	0.228	T	0.56517	-0.7966	10	0.14252	T	0.57	.	13.5417	0.61679	0.0:0.9291:0.0:0.0709	.	674	A8K1K9	.	L	674;674;420	ENSP00000387250:V674L;ENSP00000386653:V674L	ENSP00000351500:V420L	V	-	1	0	PCDH20	60884213	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	6.022000	0.70839	2.812000	0.96745	0.557000	0.71058	GTC		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		G	61986212	C	G	61986212	3	3	127	1	0	0	0	0	1	0	0	0	11515	507	18	5	839	5	PCDH20	13	61986212	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		61986212	53183666	26	8726											
LRFN5	145581	broad.mit.edu	37	chr14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcagatctgtccaaagCgttgtgtctgtcagattttg	9	14	10	8	1	4	2	2	0	2	2	5	2	5	2	1	0	2	2	1	0	2	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:42355895C>T	ENST00000298119.4	+	3	1256	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_ENST00000554171.1_Missense_Mutation_p.R23C|LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	23	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)																												uc001wvm.3																			0		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(67-69)Cgt>Tgt		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							92	83	86					14																	42355895		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42355895C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.67C>T	14.37:g.42355895C>T	ENSP00000298119:p.Arg23Cys	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.R23C	p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	1265	+			23			LRRNT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.67C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799459	0.50208	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53640	0.73;0.61;0.61	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000022	T	0.48572	0.1507	M	0.72894	2.215	0.80722	D	1	B;P	0.42010	0.397;0.768	B;B	0.36464	0.17;0.225	T	0.53718	-0.8399	10	0.44086	T	0.13	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	23;23	G3V364;Q96NI6	.;LRFN5_HUMAN	C	23	ENSP00000298119:R23C;ENSP00000451897:R23C;ENSP00000451067:R23C	ENSP00000298119:R23C	R	+	1	0	LRFN5	41425645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	CGT		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42355895	C	T	42355895	3	4	127	1	0	0	0	0	1	0	0	0	8941	768	27	1	69	1	LRFN5	14	42355895	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		42355895	64993645	27	8727											
GPR65	8477	broad.mit.edu	37	chr14	88478097	88478097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaggaagatatgatatgtgGaatatattaaaattctgcac	17	12	8	4	0	1	2	0	1	1	1	1	4	1	4	0	2	1	1	0	2	8	6			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:88478097G>A	ENST00000267549.3	+	2	1464	c.906G>A	c.(904-906)tgG>tgA	p.W302*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	302					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATGATATGTGGAATATATTAA	0.343																																						uc021rxh.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(904-906)tgG>tgA		Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.							77	76	76					14																	88478097		2203	4300	6503	SO:0001587	stop_gained	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478097G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.906G>A	14.37:g.88478097G>A	ENSP00000267549:p.Trp302*					GPR65_uc001xvv.3_Nonsense_Mutation_p.W302*	p.W302*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			0	906	+			302					O75819	Nonsense_Mutation	SNP	ENST00000267549.3	37	c.906G>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	41	8.873957	0.98986	.	.	ENSG00000140030	ENST00000267549	.	.	.	5.98	5.98	0.97165	.	0.645425	0.13887	N	0.355912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	X	302	.	ENSP00000267549:W302X	W	+	3	0	GPR65	87547850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.203000	0.77864	2.835000	0.97688	0.650000	0.86243	TGG		0.343	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			A	88478097	G	A	88478097	4	1	127	1	0	0	0	0	0	1	0	0	6706	1183	41	3	908	3	GPR65	14	88478097	Nonsense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	46122202	88478097	18871443	28	8728											
IGF1R	3480	broad.mit.edu	37	chr15	99454571	99454571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgacgtcctgcatttcacctCcaccaccacgtcgaagaatc	10	9	6	16	3	1	2	1	1	0	1	5	3	3	2	5	0	1	1	5	0	2	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:99454571C>G	ENST00000268035.6	+	7	2101	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	IGF1R_ENST00000558762.1_Missense_Mutation_p.S497C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	497	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CATTTCACCTCCACCACCACG	0.522																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1489-1491)tCc>tGc		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						152	118	129					15																	99454571		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99454571C>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1490C>G	15.37:g.99454571C>G	ENSP00000268035:p.Ser497Cys					IGF1R_uc010urq.2_Missense_Mutation_p.S497C|IGF1R_uc010bon.3_Missense_Mutation_p.S497C|IGF1R_uc010urr.1_5'UTR	p.S497C	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		6	1540	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		497			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1490C>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382841	0.82792	.	.	ENSG00000140443	ENST00000268035	T	0.69806	-0.43	5.67	4.74	0.60224	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.81273	0.4788	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.72075	0.976;0.775	T	0.81892	-0.0724	10	0.39692	T	0.17	.	16.2137	0.82186	0.1341:0.8659:0.0:0.0	.	497;497	C9J5X1;P08069	.;IGF1R_HUMAN	C	497	ENSP00000268035:S497C	ENSP00000268035:S497C	S	+	2	0	IGF1R	97272094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.747000	0.62141	1.493000	0.48517	0.655000	0.94253	TCC		0.522	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		G	99454571	C	G	99454571	3	3	127	1	0	0	0	0	1	0	0	0	7571	855	30	5	1516	5	IGF1R	15	99454571	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		99454571	3076821	29	8729											
LRRK1	79705	broad.mit.edu	37	chr15	101595206	101595206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaaatagcctaccagatCgcctcgggcctggcctacct	11	7	8	15	2	0	1	0	0	0	1	2	1	0	1	6	2	3	0	6	2	6	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:101595206C>T	ENST00000388948.3	+	27	4469	c.4110C>T	c.(4108-4110)atC>atT	p.I1370I	LRRK1_ENST00000284395.5_Silent_p.I1367I|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTACCAGATCGCCTCGGGCC	0.438																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4108-4110)atC>atT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							124	121	122					15																	101595206		1981	4145	6126	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595206C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4110C>T	15.37:g.101595206C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	p.I1370I	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		26	4429	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1370			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4110C>T	CCDS42086.1																																																																																				0.438	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101595206	C	T	101595206	2	4	127	1	0	0	0	0	0	0	0	1	9032	874	31	2		2	LRRK1	15	101595206	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	2140635	101595206	936186	30	8730											
JMJD5	79831	broad.mit.edu	37	chr16	27225037	27225037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgtgatcctgaaaggCgtggctgaccactggccgtg	7	7	15	12	3	0	3	0	3	0	0	1	3	1	3	4	4	0	1	4	4	1	0			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:27225037C>T	ENST00000286096.4	+	3	803	c.630C>T	c.(628-630)ggC>ggT	p.G210G	KDM8_ENST00000380948.2_Intron|KDM8_ENST00000568965.1_Intron|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000441782.2_Silent_p.G248G	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	210					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										TCCTGAAAGGCGTGGCTGACC	0.582																																						uc010vcn.1																			0											c.(742-744)ggC>ggT		Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.							60	60	60					16																	27225037		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27225037C>T	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.630C>T	16.37:g.27225037C>T						KDM8_uc002doh.2_Silent_p.G210G|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_5'Flank	p.G248G	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN			2	862	+			210					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.744C>T	CCDS10627.1																																																																																				0.582	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		T	27225037	C	T	27225037	2	4	127	1	0	0	0	0	0	0	0	1	7952	755	27	1		1	JMJD5	16	27225037	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		27225037	63129716	31	8731											
CHST5	23563	broad.mit.edu	37	chr16	75564022	75564022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatcaggtagaagacGtcggggtgctggctgaagag	9	7	17	8	2	1	4	1	1	0	3	3	4	2	4	1	5	1	4	1	5	3	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:75564022G>A	ENST00000336257.3	-	3	1655	c.261C>T	c.(259-261)gaC>gaT	p.D87D	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.D93D	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	87					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTAGAAGACGTCGGGGTGCT	0.672																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(277-279)gaC>gaT		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							40	37	38					16																	75564022		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564022G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.261C>T	16.37:g.75564022G>A						CHST5_uc002fei.3_Silent_p.D87D|CHST5_uc021tlk.1_Silent_p.D87D	p.D93D	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	600	-			87					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.279C>T	CCDS10919.1																																																																																				0.672	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		A	75564022	G	A	75564022	2	1	127	1	0	0	0	0	0	0	0	1	3407	1136	40	1		1	CHST5	16	75564022	Silent	SNP	G	TCGA-14-0781-01B-01D-1696-08	48338985	75564022	14790731	32	8732											
MED13	9969	broad.mit.edu	37	chr17	60107352	60107352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagaaaatttgacccaCttctggacagactgaggatc	14	9	9	9	0	1	5	0	3	1	2	2	7	1	7	1	2	0	0	1	2	3	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:60107352C>G	ENST00000397786.2	-	7	1108	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	344					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTGACCCACTTCTGGACAG	0.363																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1030-1032)aaG>aaC		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							70	61	64					17																	60107352		1819	4086	5905	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60107352C>G	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1032G>C	17.37:g.60107352C>G	ENSP00000380888:p.Lys344Asn					MED13_uc002izp.3_5'UTR	p.K344N	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			6	1109	-			344					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1032G>C	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707184	0.30232	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75821	-0.97	5.67	2.31	0.28768	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	L	0.60455	1.87	0.58432	D	0.999994	D	0.69078	0.997	P	0.62491	0.903	T	0.71421	-0.4598	10	0.18710	T	0.47	-4.0313	7.1619	0.25669	0.0:0.5589:0.0:0.4411	.	344	Q9UHV7	MED13_HUMAN	N	344;343	ENSP00000380888:K344N	ENSP00000262436:K343N	K	-	3	2	MED13	57462134	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	0.427000	0.21379	0.754000	0.32968	0.462000	0.41574	AAG		0.363	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60107352	C	G	60107352	3	3	127	1	0	0	0	0	1	0	0	0	9430	564	20	5	5588	5	MED13	17	60107352	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		60107352	21087858	33	8733											
LAMA1	284217	broad.mit.edu	37	chr18	7011417	7011417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtaaaccccctcggtcGtgcccctcaagttactctga	8	10	9	14	2	2	1	1	1	1	0	4	1	2	1	4	2	3	3	4	2	5	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr18:7011417G>A	ENST00000389658.3	-	25	3662	c.3569C>T	c.(3568-3570)aCg>aTg	p.T1190M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1190	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCCCTCGGTCGTGCCCCTCAA	0.597																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3568-3570)aCg>aTg		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29	30	29					18																	7011417		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011417G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3569C>T	18.37:g.7011417G>A	ENSP00000374309:p.Thr1190Met					LAMA1_uc010wzj.2_Missense_Mutation_p.T666M	p.T1190M	NM_005559	NP_005550	P25391	LAMA1_HUMAN			24	3663	-		Colorectal(10;0.172)	1190			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3569C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485004	0.84854	.	.	ENSG00000101680	ENST00000389658	T	0.19394	2.15	5.87	5.87	0.94306	Laminin B type IV (1);	0.219105	0.38436	N	0.001693	T	0.49133	0.1539	M	0.78801	2.425	0.43377	D	0.99547	D	0.89917	1.0	D	0.66716	0.946	T	0.30416	-0.9979	10	0.36615	T	0.2	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	1190	P25391	LAMA1_HUMAN	M	1190	ENSP00000374309:T1190M	ENSP00000374309:T1190M	T	-	2	0	LAMA1	7001417	1.000000	0.71417	0.953000	0.39169	0.860000	0.49131	5.753000	0.68736	2.765000	0.95021	0.643000	0.83706	ACG		0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7011417	G	A	7011417	3	1	127	1	0	0	0	0	1	0	0	0	8605	1145	40	1	5814	1	LAMA1	18	7011417	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		7011417	71065831	34	8734											
MUC16	94025	broad.mit.edu	37	chr19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgtgacattgttgccGtcccagtgaggtgagatatt	7	14	13	7	1	1	3	0	3	1	1	2	4	2	3	2	2	1	1	2	2	1	4	rs202224746		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:9088981G>A	ENST00000397910.4	-	1	3037	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	945	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGTTGCCGTCCCAGTGAG	0.478													g|||	1	0.000199681	0	0.0014	5008	,	,		22768	0		0	False		,,,				2504	0					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2833-2835)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		G	MET/THR	2,3974		0,2,1986	144	141	142		2834	-0.9	0	19		142	3,8333		0,3,4165	yes	missense	MUC16	NM_024690.2	81	0,5,6151	AA,AG,GG		0.036,0.0503,0.0406	benign	945/14508	9088981	5,12307	1988	4168	6156	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088981G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2834C>T	19.37:g.9088981G>A	ENSP00000381008:p.Thr945Met						p.T945M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	3038	-			945			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2834C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.799	-0.756160	0.03019	5.03E-4	3.6E-4	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.55	-0.917	0.10485	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.32128	0.357	B	0.17098	0.017	T	0.46105	-0.9215	8	0.87932	D	0	.	2.9714	0.05924	0.1967:0.291:0.5123:0.0	.	945	B5ME49	.	M	945	ENSP00000381008:T945M	ENSP00000381008:T945M	T	-	2	0	MUC16	8949981	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.747000	0.04823	-0.150000	0.11195	-0.974000	0.02594	ACG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9088981	G	A	9088981	3	1	127	1	0	0	0	0	1	0	0	0	9973	1145	40	1	41025	1	MUC16	19	9088981	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		9088981	50040002	35	8735											
FCGBP	8857	broad.mit.edu	37	chr19	40376645	40376645	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacgacagaaagtttcaTtcctccagggctccacgtgg	10	9	9	13	2	2	1	2	0	0	1	5	2	5	1	3	2	0	2	3	2	1	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:40376645T>G	ENST00000221347.6	-	24	11784	c.11777A>C	c.(11776-11778)aAt>aCt	p.N3926T	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3926						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAAGTTTCATTCCTCCAGGG	0.627																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11776-11778)aAt>aCt		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							95	120	112					19																	40376645		2099	4185	6284	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40376645T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11777A>C	19.37:g.40376645T>G	ENSP00000221347:p.Asn3926Thr						p.N3926T	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		23	11785	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3926					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.11777A>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.628414	0.00115	.	.	ENSG00000090920	ENST00000221347	T	0.75821	-0.97	3.67	-7.34	0.01427	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.43656	0.1257	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46569	-0.9182	9	0.08599	T	0.76	.	10.7931	0.46445	0.0:0.0957:0.2745:0.6298	.	3926	Q9Y6R7	FCGBP_HUMAN	T	3926	ENSP00000221347:N3926T	ENSP00000221347:N3926T	N	-	2	0	FCGBP	45068485	0.000000	0.05858	0.003000	0.11579	0.280000	0.26924	-1.808000	0.01732	-1.325000	0.02269	-0.708000	0.03648	AAT		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40376645	T	G	40376645	3	3	127	1	0	0	0	0	1	0	0	0	5778	1493	52	5	4492	5	FCGBP	19	40376645	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08	31287664	40376645	18752338	36	8736											
PFKL	5211	broad.mit.edu	37	chr21	45732952	45732952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgacttctgcggcaccgaCatgaccatcggcacggactc	10	6	10	15	5	1	1	0	1	1	0	3	4	1	2	2	3	2	2	2	3	1	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr21:45732952C>T	ENST00000349048.4	+	5	574	c.519C>T	c.(517-519)gaC>gaT	p.D173D	PFKL_ENST00000403390.1_Silent_p.D220D|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	173	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGGCACCGACATGACCATCG	0.632																																						uc002zek.3																			0		p.T219A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(658-660)gaC>gaT		Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.							163	124	137					21																	45732952		2203	4300	6503	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732952C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.519C>T	21.37:g.45732952C>T						PFKL_uc002zel.3_Silent_p.D173D|PFKL_uc011afd.1_Silent_p.D220D	p.D220D			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	7	1061	+			173					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.660C>T	CCDS33582.1																																																																																				0.632	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45732952	C	T	45732952	2	4	127	1	0	0	0	0	0	0	0	1	11764	477	17	3		3	PFKL	21	45732952	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		45732952	2396943	37	8737											
PARVB	29780	broad.mit.edu	37	chr22	44536022	44536022	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgatgatgggccggttCggtaagtaaccccagggaaa	12	7	15	7	2	0	2	0	2	0	0	1	4	0	4	3	5	1	3	3	5	3	3	rs149571024		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr22:44536022C>T	ENST00000338758.7	+	8	774	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PARVB_ENST00000404989.1_Splice_Site_p.F200F|PARVB_ENST00000406477.3_Splice_Site_p.F270F	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	237					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGGGCCGGTTCGGTAAGTAAC	0.532																																						uc003bem.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.e9+1		Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	230	191	204		810,711	-1.5	1	22	dbSNP_134	204	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	PARVB	NM_001003828.2,NM_013327.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	270/398,237/365	44536022	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44536022C>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.712+1C>T	22.37:g.44536022C>T						PARVB_uc003ben.3_Splice_Site_p.E238_splice|PARVB_uc010gzn.3_Splice_Site_p.E186_splice|PARVB_uc003beo.3_Splice_Site_p.E201_splice	p.E271_splice	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN			9	941	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	238			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.811_splice	CCDS14056.1																																																																																				0.532	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828	Silent	T	44536022	C	T	44536022	5	4	127	1	0	0	0	0	0	0	1	0	11469	898	31	2	960	2	PARVB	22	44536022	Splice_Site	SNP	C	TCGA-14-0781-01B-01D-1696-08		44536022	6768544	38	8738											
GATA1	2623	broad.mit.edu	37	chrX	48650419	48650419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggatggaaaaggcagcaCcagcttcctggagactttga	11	9	12	9	0	1	2	0	1	1	1	2	5	2	4	2	4	2	3	2	4	2	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:48650419C>A	ENST00000376670.3	+	3	500	c.389C>A	c.(388-390)aCc>aAc	p.T130N	GATA1_ENST00000376665.3_Missense_Mutation_p.T130N	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	130					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAGGCAGCACCAGCTTCCTG	0.602			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.4				Dom	yes		X	Xp11.23	2623	"Mis, F"	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)|p.V74_C199del(1)|p.S129R(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(388-390)aCc>aAc		Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.							60	50	53					X																	48650419		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650419C>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.389C>A	X.37:g.48650419C>A	ENSP00000365858:p.Thr130Asn						p.T130N	NM_002049	NP_002040	P15976	GATA1_HUMAN			2	480	+			130					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.389C>A	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147325	0.21288	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97352	-4.35;-4.14	4.6	-1.76	0.08006	.	0.776543	0.11799	N	0.528390	D	0.87394	0.6166	N	0.02011	-0.69	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.79247	-0.1882	10	0.23302	T	0.38	-2.0192	8.4461	0.32843	0.2054:0.3812:0.4133:0.0	.	130	P15976	GATA1_HUMAN	N	130	ENSP00000365858:T130N;ENSP00000365853:T130N	ENSP00000365853:T130N	T	+	2	0	GATA1	48535363	1.000000	0.71417	0.262000	0.24481	0.978000	0.69477	1.738000	0.38207	-0.378000	0.07918	0.492000	0.49549	ACC		0.602	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		A	48650419	C	A	48650419	3	1	127	1	0	0	0	0	1	0	0	0	6253	507	18	5	395	5	GATA1	23	48650419	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		48650419	106620141	39	8739											
ACTRT1	139741	broad.mit.edu	37	chrX	127185485	127185485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcccaggacctctcccCggctcttgcgtagctctttc	4	12	8	17	2	3	0	0	0	3	0	6	1	4	1	4	2	3	4	4	2	1	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:127185485C>T	ENST00000371124.3	-	1	897	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	234						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GACCTCTCCCCGGCTCTTGCG	0.507																																						uc004eum.3																			0		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(700-702)cGg>cAg		Homo sapiens actin-related protein T1 (ACTRT1), mRNA.							129	119	122					X																	127185485		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185485C>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.701G>A	X.37:g.127185485C>T	ENSP00000360165:p.Arg234Gln						p.R234Q	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			0	898	-			234					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.701G>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	4.514	0.095462	0.08681	.	.	ENSG00000123165	ENST00000371124	D	0.94232	-3.38	3.58	-3.31	0.04988	.	0.735368	0.11768	N	0.531391	D	0.83298	0.5224	N	0.17564	0.495	0.09310	N	1	P	0.34815	0.47	B	0.33196	0.159	T	0.73824	-0.3861	10	0.87932	D	0	.	5.0212	0.14361	0.1903:0.5559:0.1447:0.1091	.	234	Q8TDG2	ACTT1_HUMAN	Q	234	ENSP00000360165:R234Q	ENSP00000360165:R234Q	R	-	2	0	ACTRT1	127013166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.051000	0.14141	-1.044000	0.03254	-0.973000	0.02599	CGG		0.507	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		T	127185485	C	T	127185485	3	4	127	1	0	0	0	0	1	0	0	0	218	652	23	2	433	2	ACTRT1	23	127185485	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	78535066	127185485	28085075	40	8740											
WDR8	49856	broad.mit.edu	37	chr1	3548093	3548093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtagagcctgctgcctcCcgtgcagatggccagccgcg	6	6	14	15	3	0	2	0	0	0	2	1	2	1	2	5	2	5	3	5	2	1	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:3548093C>T	ENST00000270708.7	-	11	1250	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	WRAP73_ENST00000378322.3_Missense_Mutation_p.G393R	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	393						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGCTGCCTCCCGTGCAGATG	0.667																																						uc001ako.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1177-1179)Gga>Aga		Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.							20	21	21					1																	3548093		2200	4295	6495	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3548093C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1177G>A	1.37:g.3548093C>T	ENSP00000270708:p.Gly393Arg					WRAP73_uc001akn.3_Missense_Mutation_p.G393R	p.G393R	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN			10	1285	-			393					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.1177G>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106498	0.77096	.	.	ENSG00000116213	ENST00000270708;ENST00000378322	T;T	0.05580	3.42;3.42	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.08207	-1.0733	10	0.28530	T	0.3	-23.131	18.2801	0.90096	0.0:1.0:0.0:0.0	.	393	Q9P2S5	WRP73_HUMAN	R	393	ENSP00000270708:G393R;ENSP00000367573:G393R	ENSP00000270708:G393R	G	-	1	0	WRAP73	3537953	1.000000	0.71417	0.169000	0.22859	0.844000	0.47949	7.154000	0.77437	2.561000	0.86390	0.655000	0.94253	GGA		0.667	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			T	3548093	C	T	3548093	3	4	128	1	0	0	0	0	1	0	0	0	17326	632	22	3	213	3	WDR8	1	3548093	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		3548093	245702528	1	8741											
OMA1	115209	broad.mit.edu	37	chr1	58946683	58946683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgttaatggtatttgcTcctgtttttgaataggaaga	10	18	10	3	0	0	2	0	1	0	1	1	3	1	3	1	2	1	5	1	2	6	7			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:58946683T>C	ENST00000371226.3	-	9	1642	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	510					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGGTATTTGCTCCTGTTTTTG	0.328																																						uc001cyy.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(1528-1530)gAg>gGg		Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.							166	152	157					1																	58946683		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58946683T>C	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1529A>G	1.37:g.58946683T>C	ENSP00000360270:p.Glu510Gly					DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron	p.E510G	NM_145243	NP_660286	Q96E52	OMA1_HUMAN			8	1617	-	all_cancers(7;6.54e-05)		510					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.1529A>G	CCDS608.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029681	0.35797	.	.	ENSG00000162600	ENST00000371226	T	0.18174	2.23	4.47	4.47	0.54385	.	0.351665	0.24441	N	0.038512	T	0.11196	0.0273	N	0.19112	0.55	0.80722	D	1	B	0.30793	0.295	B	0.27608	0.081	T	0.09314	-1.0680	10	0.72032	D	0.01	-3.6528	10.3122	0.43714	0.0:0.0:0.0:1.0	.	510	Q96E52	OMA1_HUMAN	G	510	ENSP00000360270:E510G	ENSP00000360270:E510G	E	-	2	0	OMA1	58719271	0.999000	0.42202	1.000000	0.80357	0.458000	0.32498	2.671000	0.46842	2.016000	0.59253	0.477000	0.44152	GAG		0.328	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		C	58946683	T	C	58946683	3	2	128	1	0	0	0	0	1	0	0	0	10864	1551	54	4	49	4	OMA1	1	58946683	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08	55398590	58946683	190303938	2	8742											
GJA8	2703	broad.mit.edu	37	chr1	147380346	147380346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttcgtctccaccccGtccctgatgtacgtggggca	6	11	9	15	3	3	1	1	1	2	0	6	1	4	1	4	2	1	2	4	2	1	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:147380346G>A	ENST00000369235.1	+	1	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P	GJA8_ENST00000240986.4_Silent_p.P88P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	88			P -> S (in CTRCT1; zonular pulverulent). {ECO:0000269|PubMed:9497259}.		cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTCCACCCCGTCCCTGATGT	0.642																																					Melanoma(76;1255 1795 8195 52096)	uc021ovm.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(262-264)ccG>ccA		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							123	97	106					1																	147380346		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380346G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.264G>A	1.37:g.147380346G>A						GJA8_uc001epu.2_Silent_p.P88P	p.P88P	NM_005267	NP_005258	P48165	CXA8_HUMAN			0	264	+	all_hematologic(923;0.0276)		88		P -> S (in CZP1).			A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.264G>A	CCDS30834.1																																																																																				0.642	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		A	147380346	G	A	147380346	2	1	128	1	0	0	0	0	0	0	0	1	6405	1132	40	1		1	GJA8	1	147380346	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	88433663	147380346	101870275	3	8743											
LAMB3	3914	broad.mit.edu	37	chr1	209803992	209803992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtcctggccctccgccGgtctccagggccggttgttg	1	9	16	15	4	1	0	0	0	1	0	4	0	3	0	6	5	0	2	6	5	0	2	rs114394307	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:209803992G>A	ENST00000356082.4	-	9	1045	c.911C>T	c.(910-912)cCg>cTg	p.P304L	LAMB3_ENST00000367030.3_Missense_Mutation_p.P304L|LAMB3_ENST00000391911.1_Missense_Mutation_p.P304L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	304	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCCCTCCGCCGGTCTCCAGGG	0.622													G|||	2	0.000399361	0	0	5008	,	,		17475	0.001		0.001	False		,,,				2504	0					uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(910-912)cCg>cTg		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	51	53	52		911,911,911	4.9	1	1	dbSNP_132	52	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	98,98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	304/1173,304/1173,304/1173	209803992	3,13003	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209803992G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.911C>T	1.37:g.209803992G>A	ENSP00000348384:p.Pro304Leu					LAMB3_uc009xco.3_Missense_Mutation_p.P304L|LAMB3_uc001hhh.3_Missense_Mutation_p.P304L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.P240L	p.P304L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	7	1301	-			304			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.911C>T	CCDS1487.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	26.6	4.751562	0.89753	0.0	3.49E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61859	0.07;0.07;0.07	4.95	4.95	0.65309	EGF-like, laminin (4);	0.058255	0.64402	D	0.000001	T	0.81851	0.4910	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67548	0.952;0.921	D	0.87026	0.2132	10	0.72032	D	0.01	.	18.2272	0.89921	0.0:0.0:1.0:0.0	.	304;304	B4DL55;Q13751	.;LAMB3_HUMAN	L	304	ENSP00000375778:P304L;ENSP00000348384:P304L;ENSP00000355997:P304L	ENSP00000348384:P304L	P	-	2	0	LAMB3	207870615	1.000000	0.71417	0.995000	0.50966	0.783000	0.44284	8.862000	0.92283	2.474000	0.83562	0.650000	0.86243	CCG		0.622	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209803992	G	A	209803992	3	1	128	1	0	0	0	0	1	0	0	0	8612	1116	39	2	2667	2	LAMB3	1	209803992	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	62423646	209803992	39446629	4	8744											
RYR2	6262	broad.mit.edu	37	chr1	237774131	237774131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgccgcagtgccccccgCgcctccacgtgcagttcctg	3	7	11	20	5	0	0	0	0	0	0	2	0	2	0	8	0	3	3	8	0	0	1	rs528206995		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:237774131C>T	ENST00000366574.2	+	36	5070	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1569C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1583C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1585	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCCCCGCGCCTCCACGT	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		16428	0		0	False		,,,				2504	0					uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4753-4755)Cgc>Tgc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							50	52	51					1																	237774131		1950	4124	6074	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774131C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4753C>T	1.37:g.237774131C>T	ENSP00000355533:p.Arg1585Cys						p.R1585C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		35	4873	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1585			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4753C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244925	0.79912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98345	-4.88;-4.86;-4.87	5.24	5.24	0.73138	.	0.192154	0.30501	N	0.009495	D	0.99029	0.9668	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.99709	1.1006	10	0.87932	D	0	.	19.0203	0.92912	0.0:1.0:0.0:0.0	.	1585	Q92736	RYR2_HUMAN	C	1585;1583;1569	ENSP00000355533:R1585C;ENSP00000353174:R1583C;ENSP00000443798:R1569C	ENSP00000353174:R1583C	R	+	1	0	RYR2	235840754	0.991000	0.36638	0.796000	0.32109	0.952000	0.60782	2.931000	0.48932	2.715000	0.92844	0.655000	0.94253	CGC		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237774131	C	T	237774131	3	4	128	1	0	0	0	0	1	0	0	0	13769	768	27	1	4895	1	RYR2	1	237774131	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	27970139	237774131	11476490	5	8745											
CAD	790	broad.mit.edu	37	chr2	27465785	27465785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcctgacactgatgtgCtctacatgactcgaatccag	9	10	9	13	2	1	3	0	3	1	0	3	4	2	3	2	0	3	2	2	0	2	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:27465785C>A	ENST00000403525.1	+	41	6379	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	CAD_ENST00000264705.4_Missense_Mutation_p.L2142I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGATGTGCTCTACATGAC	0.582																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6424-6426)Ctc>Atc		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						74	72	73					2																	27465785		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465785C>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6235C>A	2.37:g.27465785C>A	ENSP00000384510:p.Leu2079Ile					CAD_uc010eyw.3_Missense_Mutation_p.L2079I	p.L2142I	NM_004341	NP_004332	P27708	PYR1_HUMAN			41	6586	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2142			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.6424C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.559615|4.559615	0.86335|0.86335	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.98602	.|-5.02;-5.02	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.98153	.|0.9390	L|L	0.49513|0.49513	1.565|1.565	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.69078	.|0.983;0.997	.|P;D	.|0.79108	.|0.895;0.992	.|D	.|0.98083	.|1.0405	.|10	.|0.62326	.|D	.|0.03	-23.7071|-23.7071	11.0376|11.0376	0.47811|0.47811	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	.|2079;2142	.|F8VPD4;P27708	.|.;PYR1_HUMAN	X|I	209|2142;2079	.|ENSP00000264705:L2142I;ENSP00000384510:L2079I	.|ENSP00000264705:L2142I	C|L	+|+	3|1	2|0	CAD|CAD	27319289|27319289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	5.388000|5.388000	0.66249|0.66249	2.452000|2.452000	0.82932|0.82932	0.511000|0.511000	0.50034|0.50034	TGC|CTC		0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27465785	C	A	27465785	3	1	128	1	0	0	0	0	1	0	0	0	2565	797	28	5	6590	5	CAD	2	27465785	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		27465785	215733588	6	8746											
PRKD3	23683	broad.mit.edu	37	chr2	37501816	37501816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcgtggtgaagatatgcGgagaatttctgaaagtggaa	13	11	13	4	2	2	4	0	2	2	2	3	6	2	5	0	3	1	0	0	3	5	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:37501816G>C	ENST00000379066.1	-	11	2161	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	PRKD3_ENST00000234179.2_Missense_Mutation_p.R467G			O94806	KPCD3_HUMAN	protein kinase D3	467	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAAGATATGCGGAGAATTTCT	0.318																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.3																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1399-1401)Cgc>Ggc		Homo sapiens protein kinase D3 (PRKD3), mRNA.							50	49	49					2																	37501816		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37501816G>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1399C>G	2.37:g.37501816G>C	ENSP00000368356:p.Arg467Gly					PRKD3_uc002rqe.1_Missense_Mutation_p.R67G|PRKD3_uc002rqf.1_Missense_Mutation_p.R467G	p.R467G	NM_005813	NP_005804	O94806	KPCD3_HUMAN			9	1954	-		all_hematologic(82;0.21)	467			PH.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1399C>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503867	0.44558	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.21031	2.03;2.03	5.42	5.42	0.78866	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.149116	0.48767	D	0.000163	T	0.13457	0.0326	N	0.14661	0.345	0.38387	D	0.945291	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07908	-1.0748	10	0.41790	T	0.15	-6.271	12.5511	0.56227	0.0762:0.0:0.9238:0.0	.	467;467	O94806-2;O94806	.;KPCD3_HUMAN	G	467	ENSP00000368356:R467G;ENSP00000234179:R467G	ENSP00000234179:R467G	R	-	1	0	PRKD3	37355320	1.000000	0.71417	0.677000	0.29947	0.975000	0.68041	7.827000	0.86722	2.517000	0.84864	0.585000	0.79938	CGC		0.318	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		C	37501816	G	C	37501816	3	2	128	1	0	0	0	0	1	0	0	0	12520	1116	39	5	1309	5	PRKD3	2	37501816	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	10036031	37501816	205697557	7	8747											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcggggcagcgcctggCgtgcgtccaggcccccaggc	3	3	19	16	5	0	0	0	0	0	0	1	0	1	0	4	6	2	1	4	6	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:107460204C>T	ENST00000409382.3	-	2	840	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	77					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(229-231)cGc>cAc		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							17	22	20					2																	107460204		2144	4211	6355	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460204C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.230G>A	2.37:g.107460204C>T	ENSP00000386942:p.Arg77His					ST6GAL2_uc002tdr.3_Missense_Mutation_p.R77H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77H	p.R77H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	349	-			77					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.230G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896345	0.33442	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32515	2.46;2.46;1.45	5.18	-4.98	0.03019	.	1.558860	0.03596	N	0.232558	T	0.13756	0.0333	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.26985	-1.0087	10	0.41790	T	0.15	-0.4606	8.5868	0.33664	0.0:0.4994:0.1257:0.3749	.	77;77	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	77	ENSP00000355273:R77H;ENSP00000386942:R77H;ENSP00000387332:R77H	ENSP00000355273:R77H	R	-	2	0	ST6GAL2	106826636	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.727000	0.25999	-1.007000	0.03408	-0.793000	0.03317	CGC		0.677	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460204	C	T	107460204	3	4	128	1	0	0	0	0	1	0	0	0	15221	768	27	1	1466	1	ST6GAL2	2	107460204	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	69958388	107460204	135739169	8	8748											
PPIG	9360	broad.mit.edu	37	chr2	170493100	170493100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagaagaaattcagaaaaAgatgacaagtataaaaacaa	25	6	6	4	0	2	5	2	1	0	4	2	5	2	5	0	0	1	1	0	0	10	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:170493100A>C	ENST00000260970.3	+	14	1552	c.1332A>C	c.(1330-1332)aaA>aaC	p.K444N	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.K429N|PPIG_ENST00000448752.2_Missense_Mutation_p.K444N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	444					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTCAGAAAAAGATGACAAGT	0.313																																						uc002uez.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1330-1332)aaA>aaC		Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	L-Proline(DB00172)						46	48	47					2																	170493100		2183	4271	6454	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493100A>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1332A>C	2.37:g.170493100A>C	ENSP00000260970:p.Lys444Asn					PPIG_uc010fpx.3_Missense_Mutation_p.K429N|PPIG_uc010fpy.3_Missense_Mutation_p.K437N|PPIG_uc002ufb.3_Missense_Mutation_p.K444N|PPIG_uc002ufd.3_Missense_Mutation_p.K441N	p.K444N	NM_004792	NP_004783	Q13427	PPIG_HUMAN			13	1552	+			444					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1332A>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472876	0.43942	.	.	ENSG00000138398	ENST00000260970;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.24350	2.23;1.86;2.22;2.23	5.92	5.92	0.95590	.	0.055851	0.64402	D	0.000001	T	0.33847	0.0877	L	0.27053	0.805	0.42572	D	0.993181	P;P;D;P	0.63880	0.926;0.829;0.993;0.829	P;B;D;B	0.72338	0.454;0.36;0.977;0.36	T	0.23511	-1.0186	10	0.72032	D	0.01	-24.8005	7.3648	0.26766	0.783:0.1456:0.0714:0.0	.	437;429;429;444	C9JM79;E9PG73;Q2NKQ6;Q13427	.;.;.;PPIG_HUMAN	N	444;437;429;444	ENSP00000260970:K444N;ENSP00000408683:K437N;ENSP00000386245:K429N;ENSP00000407083:K444N	ENSP00000260970:K444N	K	+	3	2	PPIG	170201346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.129000	0.31381	2.266000	0.75297	0.533000	0.62120	AAA		0.313	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			C	170493100	A	C	170493100	3	2	128	1	0	0	0	0	1	0	0	0	12324	69	3	5	1378	5	PPIG	2	170493100	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	63032896	170493100	72706273	9	8749											
C3orf20	84077	broad.mit.edu	37	chr3	14802983	14802983	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttcctgtcaacagatgTttgccggggggaagctcatt	7	13	11	10	1	2	1	2	0	0	1	4	2	4	2	3	3	3	2	3	3	2	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:14802983T>A	ENST00000253697.3	+	15	2808	c.2356T>A	c.(2356-2358)Ttt>Att	p.F786I	C3orf20_ENST00000435614.1_Missense_Mutation_p.F664I|C3orf20_ENST00000412910.1_Missense_Mutation_p.F664I	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	786						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCAACAGATGTTTGCCGGGGG	0.483																																						uc003byy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2356-2358)Ttt>Att		Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.							56	57	57					3																	14802983		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14802983T>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2356T>A	3.37:g.14802983T>A	ENSP00000253697:p.Phe786Ile					C3orf20_uc003byz.3_Missense_Mutation_p.F664I|C3orf20_uc003bza.3_Missense_Mutation_p.F664I|C3orf20_uc003bzb.1_Missense_Mutation_p.F287I|C3orf20_uc011avj.2_Missense_Mutation_p.F113I	p.F786I	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN			14	2808	+			786					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2356T>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.638514	0.67130	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.16597	2.61;2.33;2.33	4.64	4.64	0.57946	.	0.000000	0.49916	D	0.000125	T	0.23766	0.0575	M	0.72479	2.2	0.36988	D	0.894626	P;P	0.39883	0.693;0.693	B;B	0.41332	0.354;0.354	T	0.23797	-1.0178	10	0.59425	D	0.04	-15.7353	11.8849	0.52596	0.0:0.0:0.0:1.0	.	664;786	Q8ND61-2;Q8ND61	.;CC020_HUMAN	I	786;664;664	ENSP00000253697:F786I;ENSP00000402933:F664I;ENSP00000396081:F664I	ENSP00000253697:F786I	F	+	1	0	C3orf20	14777987	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.436000	0.59948	1.849000	0.53698	0.482000	0.46254	TTT		0.483	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14802983	T	A	14802983	3	1	128	1	0	0	0	0	1	0	0	0	2213	1725	60	5	2406	5	C3orf20	3	14802983	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		14802983	183219447	10	8750											
NR2C2	7182	broad.mit.edu	37	chr3	15079601	15079601	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagctggatatagatggCtatgagtatgcataccttaa	13	11	11	6	1	0	2	0	1	0	1	0	4	0	3	1	2	3	4	1	2	7	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:15079601C>G	ENST00000425241.1	+	12	1829	c.1467C>G	c.(1465-1467)ggC>ggG	p.G489G	NR2C2_ENST00000393102.3_Silent_p.G489G|NR2C2_ENST00000323373.6_Silent_p.G508G|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Silent_p.G489G			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	489	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATATAGATGGCTATGAGTATG	0.453																																						uc003bzj.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1465-1467)ggC>ggG		Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.							180	160	167					3																	15079601		2203	4300	6503	SO:0001819	synonymous_variant	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15079601C>G	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1467C>G	3.37:g.15079601C>G						NR2C2_uc003bzi.3_Silent_p.G508G	p.G489G	NM_003298	NP_003289	P49116	NR2C2_HUMAN			11	1684	+			489			Ligand-binding (By similarity).		A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37	c.1467C>G																																																																																					0.453	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		G	15079601	C	G	15079601	2	3	128	1	0	0	0	0	0	0	0	1	10623	784	28	5		5	NR2C2	3	15079601	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08	276618	15079601	182942829	11	8751											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459942	122459942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattgcctcttctacccGggctaggtgatcctcttcct	4	14	10	13	1	3	2	0	2	3	0	5	2	5	2	4	3	2	1	4	3	2	5			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:122459942G>A	ENST00000306103.2	-	7	987	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	282	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCTTCTACCCGGGCTAGGTGA	0.423																																						uc003efu.2																			0		p.R282L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(844-846)Cgg>Tgg		Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.							101	101	101					3																	122459942		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459942G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.844C>T	3.37:g.122459942G>A	ENSP00000302562:p.Arg282Trp					HSPBAP1_uc003eft.2_5'UTR	p.R282W	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	983	-			282			JmjC.		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.844C>T	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328554	0.81690	.	.	ENSG00000169087	ENST00000306103	T	0.11821	2.74	5.35	5.35	0.76521	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	1.580070	0.02920	N	0.137847	T	0.48241	0.1489	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02301	-1.1180	10	0.66056	D	0.02	.	16.3722	0.83368	0.0:0.0:1.0:0.0	.	282	Q96EW2	HBAP1_HUMAN	W	282	ENSP00000302562:R282W	ENSP00000302562:R282W	R	-	1	2	HSPBAP1	123942632	1.000000	0.71417	0.995000	0.50966	0.929000	0.56500	4.223000	0.58587	2.785000	0.95823	0.655000	0.94253	CGG		0.423	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		A	122459942	G	A	122459942	3	1	128	1	0	0	0	0	1	0	0	0	7425	1115	39	2	630	2	HSPBAP1	3	122459942	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	107380341	122459942	75562488	12	8752											
SLIT2	9353	broad.mit.edu	37	chr4	20541195	20541195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttgatactctccattCtttatctactctgtaagtat	9	18	5	9	0	4	1	0	1	4	0	5	1	4	1	1	1	2	3	1	1	5	8			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:20541195C>A	ENST00000504154.1	+	19	2216	c.1964C>A	c.(1963-1965)tCt>tAt	p.S655Y	SLIT2_ENST00000273739.5_Missense_Mutation_p.S659Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.S651Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.S647Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	655					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTCTCCATTCTTTATCTACT	0.308																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1963-1965)tCt>tAt		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							93	88	90					4																	20541195		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541195C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1964C>A	4.37:g.20541195C>A	ENSP00000422591:p.Ser655Tyr					SLIT2_uc003gps.1_Missense_Mutation_p.S647Y	p.S655Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN			18	2168	+			655					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1964C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139337	0.94560	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.69	5.69	0.88448	.	0.099158	0.64402	D	0.000001	T	0.80019	0.4547	M	0.81682	2.555	0.80722	D	1	D;D	0.58620	0.98;0.983	P;P	0.62382	0.84;0.901	T	0.81357	-0.0969	10	0.62326	D	0.03	.	19.817	0.96573	0.0:1.0:0.0:0.0	.	647;655	O94813-3;O94813	.;SLIT2_HUMAN	Y	647;655;659;651;651	ENSP00000427548:S647Y;ENSP00000422591:S655Y;ENSP00000273739:S659Y;ENSP00000422261:S651Y	ENSP00000273739:S659Y	S	+	2	0	SLIT2	20150293	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	7.807000	0.86032	2.678000	0.91216	0.655000	0.94253	TCT		0.308	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20541195	C	A	20541195	3	1	128	1	0	0	0	0	1	0	0	0	14740	913	32	5	2038	5	SLIT2	4	20541195	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		20541195	170613081	13	8753											
BANK1	55024	broad.mit.edu	37	chr4	102946614	102946614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctcctctccccccgccGcgacctgtagctaatgcctt	6	9	7	19	3	1	1	0	0	1	1	3	2	2	1	8	0	2	2	8	0	2	3	rs199703882		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:102946614G>A	ENST00000322953.4	+	9	1816	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000444316.2_Silent_p.P484P|BANK1_ENST00000504592.1_Silent_p.P499P|BANK1_ENST00000508653.1_Silent_p.P381P|BANK1_ENST00000428908.1_Silent_p.P381P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	514					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCCCCCGCCGCGACCTGTAG	0.433													G|||	1	0.000199681	0	0	5008	,	,		18682	0.001		0	False		,,,				2504	0					uc003hvy.4																			0		p.P514L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(1540-1542)ccG>ccA		Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.							56	57	57					4																	102946614		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102946614G>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1542G>A	4.37:g.102946614G>A						BANK1_uc003hvx.4_Silent_p.P499P|BANK1_uc010ill.3_Silent_p.P381P|BANK1_uc003hvz.4_Silent_p.P484P	p.P514P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	8	1816	+		Hepatocellular(203;0.217)	514					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1542G>A	CCDS34038.1																																																																																				0.433	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		A	102946614	G	A	102946614	2	1	128	1	0	0	0	0	0	0	0	1	1309	1074	38	1		1	BANK1	4	102946614	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	82405419	102946614	88207662	14	8754											
ALPK1	80216	broad.mit.edu	37	chr4	113353098	113353098	+	Frame_Shift_Del	DEL	C	C	-																															cagaaagcactgaagatgcaCccttagactttcacagggtc																										TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:113353098delC	ENST00000458497.1	+	11	2674	c.2395delC	c.(2395-2397)cccfs	p.P799fs	ALPK1_ENST00000177648.9_Frame_Shift_Del_p.P799fs|ALPK1_ENST00000504176.2_Frame_Shift_Del_p.P721fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	799							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGAAGATGCACCCTTAGACTT	0.488																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2395-2397)cccfs		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							61	54	56					4																	113353098		2203	4300	6503	SO:0001589	frameshift_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353098delC	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2395delC	4.37:g.113353098delC	ENSP00000398048:p.Pro799fs					ALPK1_uc003iap.4_Frame_Shift_Del_p.P799fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.P721fs|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Frame_Shift_Del_p.P627fs	p.P799fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	2622	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	799					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Frame_Shift_Del	DEL	ENST00000458497.1	37	c.2395delC	CCDS3697.1																																																																																				0.488	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		-	113353098	C	-	113353098	7	5	128	1	0	1	0	1	0	0	0	0	544	507	18	0	2429	0	ALPK1	4	113353098	Frame_Shift_Del	DEL	C	TCGA-14-0786-01B-01D-1492-08	10406484	113353098	77801178	15	8755											
FHDC1	85462	broad.mit.edu	37	chr4	153897835	153897835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcggaaggactccagtcGgaccacgctggggagaatcc	9	5	14	13	4	0	1	0	0	0	1	4	5	2	4	4	5	0	1	4	5	2	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:153897835G>A	ENST00000511601.1	+	12	3580	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1131Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1131									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACTCCAGTCGGACCACGCTG	0.637																																						uc003inf.2																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3391-3393)cGg>cAg		Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.							15	13	13					4																	153897835		2187	4287	6474	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897835G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3392G>A	4.37:g.153897835G>A	ENSP00000427567:p.Arg1131Gln						p.R1131Q	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			10	3467	+	all_hematologic(180;0.093)		1131						Missense_Mutation	SNP	ENST00000511601.1	37	c.3392G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531489	0.27387	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.34072	1.38;1.38	5.39	0.384	0.16244	.	0.583336	0.15609	N	0.253519	T	0.16854	0.0405	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.10450	0.005	T	0.22034	-1.0228	10	0.21540	T	0.41	.	5.7981	0.18397	0.2809:0.3635:0.3556:0.0	.	1131	Q9C0D6	FHDC1_HUMAN	Q	1131	ENSP00000427567:R1131Q;ENSP00000260008:R1131Q	ENSP00000260008:R1131Q	R	+	2	0	FHDC1	154117285	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.461000	0.21940	-0.268000	0.09312	0.655000	0.94253	CGG		0.637	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		A	153897835	G	A	153897835	3	1	128	1	0	0	0	0	1	0	0	0	5876	1116	39	2	3434	2	FHDC1	4	153897835	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	40544737	153897835	37256441	16	8756											
POU4F3	5459	broad.mit.edu	37	chr5	145719603	145719603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaagctgggggtgaccCaggcggacgtgggcgcggct	6	5	19	11	4	1	1	1	1	0	0	1	2	1	2	1	6	1	3	1	6	1	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr5:145719603C>A	ENST00000230732.4	+	2	702	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	205	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGTGACCCAGGCGGACGT	0.657																																						uc003loa.2																			0		p.Q205H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(613-615)Cag>Aag		Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.							38	43	41					5																	145719603		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719603C>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.613C>A	5.37:g.145719603C>A	ENSP00000230732:p.Gln205Lys						p.Q205K	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	702	+			205			POU-specific.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.613C>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069195	0.76301	.	.	ENSG00000091010	ENST00000230732	D	0.87650	-2.28	4.51	4.51	0.55191	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.92923	3.36	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.96024	0.9011	10	0.87932	D	0	.	16.1394	0.81513	0.0:1.0:0.0:0.0	.	205	Q15319	PO4F3_HUMAN	K	205	ENSP00000230732:Q205K	ENSP00000230732:Q205K	Q	+	1	0	POU4F3	145699796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.312000	0.78011	0.462000	0.41574	CAG		0.657	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		A	145719603	C	A	145719603	3	1	128	1	0	0	0	0	1	0	0	0	12280	595	21	5	619	5	POU4F3	5	145719603	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		145719603	35195657	17	8757											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726720	25726720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgagacttagacttggcGcgtgcttttcctccctgctt	5	13	11	12	3	0	2	0	0	0	2	2	4	2	2	2	1	3	2	2	1	1	5	rs150563946	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:25726720G>A	ENST00000297012.3	-	1	70	c.36C>T	c.(34-36)cgC>cgT	p.R12R	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TAGACTTGGCGCGTGCTTTTC	0.532													G|||	2	0.000399361	0	0.0014	5008	,	,		18681	0		0.001	False		,,,				2504	0					uc003nfc.3																			0		p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(34-36)cgC>cgT		Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	458	351	388		36	-6.1	0	6	dbSNP_134	388	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	HIST1H2AA	NM_170745.3		0,20,6483	AA,AG,GG		0.1977,0.0681,0.1538		12/132	25726720	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726720G>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.36C>T	6.37:g.25726720G>A						HIST1H2BA_uc003nfd.3_5'Flank	p.R12R	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			0	71	-			12						Silent	SNP	ENST00000297012.3	37	c.36C>T	CCDS4562.1																																																																																				0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		A	25726720	G	A	25726720	2	1	128	1	0	0	0	0	0	0	0	1	7128	1074	38	1		1	HIST1H2AA	6	25726720	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08		25726720	145388347	18	8758											
BTN3A3	10384	broad.mit.edu	37	chr6	26452287	26452287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcttcctggactatgAgactggagagatctcgttct	8	12	13	8	1	3	2	0	1	3	2	5	7	4	5	1	4	0	1	1	4	1	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:26452287A>G	ENST00000244519.2	+	11	1646	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	BTN3A3_ENST00000361232.3_Missense_Mutation_p.E419G|BTN3A3_ENST00000339789.4_Missense_Mutation_p.E426G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	468	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTGGACTATGAGACTGGAGAG	0.483																																						uc003nhz.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1402-1404)gAg>gGg		Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.							118	110	112					6																	26452287		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452287A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1403A>G	6.37:g.26452287A>G	ENSP00000244519:p.Glu468Gly					BTN3A3_uc011dkn.2_Missense_Mutation_p.E419G|BTN3A3_uc021ynh.1_Missense_Mutation_p.E258G	p.E468G	NM_006994	NP_008925	O00478	BT3A3_HUMAN			10	1646	+			468			B30.2/SPRY.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1403A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151606	0.38021	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.65549	-0.16;-0.16;-0.16	3.15	3.15	0.36227	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.72614	0.3482	M	0.86178	2.8	0.36640	D	0.876792	P;D	0.76494	0.896;0.999	P;D	0.79108	0.714;0.992	T	0.77330	-0.2628	9	0.87932	D	0	.	9.9611	0.41697	1.0:0.0:0.0:0.0	.	419;468	E9PCP5;O00478	.;BT3A3_HUMAN	G	468;426;419	ENSP00000244519:E468G;ENSP00000344968:E426G;ENSP00000355238:E419G	ENSP00000244519:E468G	E	+	2	0	BTN3A3	26560266	1.000000	0.71417	0.563000	0.28383	0.039000	0.13416	4.868000	0.63021	1.374000	0.46228	0.374000	0.22700	GAG		0.483	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		G	26452287	A	G	26452287	3	3	128	1	0	0	0	0	1	0	0	0	1564	304	11	4	1437	4	BTN3A3	6	26452287	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	725567	26452287	144662780	19	8759											
EEF1A1	1915	broad.mit.edu	37	chr6	74229196	74229196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcacgctcagctttcAgtttatccaagacccaggca	10	10	7	14	2	3	1	3	0	0	1	4	1	4	1	2	1	1	5	2	1	2	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:74229196A>C	ENST00000316292.9	-	2	1179	c.188T>G	c.(187-189)cTg>cGg	p.L63R	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.L63R|EEF1A1_ENST00000331523.2_Missense_Mutation_p.L63R	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	63	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CTCAGCTTTCAGTTTATCCAA	0.428											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(187-189)cTg>cGg		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							74	84	81					6																	74229196		2201	4293	6494	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229196A>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.188T>G	6.37:g.74229196A>C	ENSP00000339063:p.Leu63Arg		OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.L63R|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.L63R|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	p.L63R	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	1180	-			63					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.188T>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464440	0.43736	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	3.97	3.97	0.46021	Protein synthesis factor, GTP-binding (4);	0.000000	0.56097	U	0.000024	T	0.67192	0.2867	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	0.982;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.885;1.0;1.0;1.0;1.0	T	0.75923	-0.3146	10	0.87932	D	0	.	13.3318	0.60492	1.0:0.0:0.0:0.0	.	63;63;63;63;63	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	R	63	ENSP00000339063:L63R;ENSP00000339053:L63R;ENSP00000330054:L63R;ENSP00000348651:L63R;ENSP00000392366:L63R	ENSP00000339053:L63R	L	-	2	0	EEF1A1	74285917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.829000	0.92055	1.792000	0.52537	0.454000	0.30748	CTG		0.428	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		C	74229196	A	C	74229196	3	2	128	1	0	0	0	0	1	0	0	0	4923	188	7	5	1224	5	EEF1A1	6	74229196	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	47776909	74229196	96885871	20	8760											
IQCE	23288	broad.mit.edu	37	chr7	2611279	2611279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgtggctgggaaccGcaaagccaggtatgtggttg	10	8	16	7	1	0	1	0	0	0	1	0	2	0	2	2	4	3	5	2	4	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:2611279G>A	ENST00000402050.2	+	4	434	c.250G>A	c.(250-252)Gca>Aca	p.A84T	IQCE_ENST00000438376.2_Missense_Mutation_p.A68T|IQCE_ENST00000404984.1_Missense_Mutation_p.A33T|IQCE_ENST00000325979.7_Missense_Mutation_p.A19T	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	84						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCTGGGAACCGCAAAGCCAGG	0.572																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(250-252)Gca>Aca		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							42	47	45					7																	2611279		1944	4123	6067	SO:0001583	missense	23288							g.chr7:2611279G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.250G>A	7.37:g.2611279G>A	ENSP00000385597:p.Ala84Thr					IQCE_uc010ksm.1_Missense_Mutation_p.A84T|IQCE_uc011jvy.1_Missense_Mutation_p.A68T|IQCE_uc011jvz.1_Missense_Mutation_p.A19T|IQCE_uc003smo.4_Missense_Mutation_p.A84T|IQCE_uc003smk.4_Missense_Mutation_p.A68T|IQCE_uc003smn.4_Missense_Mutation_p.A19T	p.A84T	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	3	434	+		Ovarian(82;0.0112)	84					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.250G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	5.396	0.258202	0.10239	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42	5.35	-10.7	0.00240	.	0.959099	0.08622	N	0.918376	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.31625	0.332;0.332;0.231;0.152;0.332;0.196	B;B;B;B;B;B	0.19148	0.022;0.012;0.024;0.008;0.012;0.011	T	0.36359	-0.9751	10	0.05525	T	0.97	-0.1233	5.844	0.18652	0.0919:0.2015:0.531:0.1757	.	19;68;19;84;84;68	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	T	84;33;84;68;19;19;19	ENSP00000385597:A84T;ENSP00000385945:A33T;ENSP00000404643:A84T;ENSP00000396178:A68T;ENSP00000313772:A19T;ENSP00000413570:A19T	ENSP00000313772:A19T	A	+	1	0	IQCE	2577805	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.192000	0.09587	-2.225000	0.00724	-1.193000	0.01689	GCA		0.572	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		A	2611279	G	A	2611279	3	1	128	1	0	0	0	0	1	0	0	0	7806	1087	38	1	264	1	IQCE	7	2611279	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		2611279	156527384	21	8761											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	128	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	52610543	55221822	103916841	22	8762											
HBP1	26959	broad.mit.edu	37	chr7	106829793	106829793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagtgtatcatttggCgagtctgtactgaagttgac	12	12	12	5	1	2	3	1	2	1	1	2	5	2	3	0	1	1	3	0	1	5	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:106829793C>T	ENST00000222574.4	+	7	1008	c.822C>T	c.(820-822)ggC>ggT	p.G274G	HBP1_ENST00000468410.1_Silent_p.G274G|HBP1_ENST00000461963.1_Intron|HBP1_ENST00000485846.1_Silent_p.G274G	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	274	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TATCATTTGGCGAGTCTGTAC	0.368																																						uc003vdy.3																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(820-822)ggC>ggT		Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.							204	172	183					7																	106829793		2203	4300	6503	SO:0001819	synonymous_variant	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106829793C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.822C>T	7.37:g.106829793C>T						HBP1_uc011klv.2_Silent_p.G284G|HBP1_uc003vdz.3_Silent_p.G274G|HBP1_uc003vea.3_Silent_p.G274G|HBP1_uc003veb.1_Silent_p.G274G	p.G274G	NM_012257	NP_036389	O60381	HBP1_HUMAN			6	1008	+			274			AXH.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Silent	SNP	ENST00000222574.4	37	c.822C>T	CCDS5741.1																																																																																				0.368	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		T	106829793	C	T	106829793	2	4	128	1	0	0	0	0	0	0	0	1	6985	755	27	1		1	HBP1	7	106829793	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08	51607971	106829793	52308870	23	8763											
SLC30A8	169026	broad.mit.edu	37	chr8	118170045	118170045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatccaggcgactgtgatGatcatcgtttccagctgcgc	8	10	11	12	3	1	3	1	2	0	1	4	4	3	3	2	1	2	2	2	1	0	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr8:118170045G>A	ENST00000456015.2	+	4	534	c.534G>A	c.(532-534)atG>atA	p.M178I	SLC30A8_ENST00000519688.1_Missense_Mutation_p.M129I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.M129I|SLC30A8_ENST00000427715.2_Missense_Mutation_p.M129I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	178					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGACTGTGATGATCATCGTTT	0.547																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.3																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(532-534)atG>atA		Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.							231	194	207					8																	118170045		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170045G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.534G>A	8.37:g.118170045G>A	ENSP00000415011:p.Met178Ile					SLC30A8_uc010mcz.3_Missense_Mutation_p.M129I|SLC30A8_uc003yog.3_Missense_Mutation_p.M129I|SLC30A8_uc011lia.2_Missense_Mutation_p.M129I|SLC30A8_uc022bab.1_Missense_Mutation_p.M129I	p.M178I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		3	764	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		178					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.534G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658027	0.67586	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.77	4.89	0.63831	.	0.038129	0.85682	D	0.000000	T	0.76371	0.3978	M	0.82716	2.605	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.79754	-0.1670	10	0.87932	D	0	-33.4136	14.2057	0.65732	0.0726:0.0:0.9274:0.0	.	178	Q8IWU4	ZNT8_HUMAN	I	129;129;129;178	ENSP00000428545:M129I;ENSP00000407505:M129I;ENSP00000431069:M129I;ENSP00000415011:M178I	ENSP00000407505:M129I	M	+	3	0	SLC30A8	118239226	1.000000	0.71417	0.989000	0.46669	0.085000	0.17905	5.722000	0.68485	2.722000	0.93159	0.655000	0.94253	ATG		0.547	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		A	118170045	G	A	118170045	3	1	128	1	0	0	0	0	1	0	0	0	14561	1290	45	3	548	3	SLC30A8	8	118170045	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		118170045	28193977	24	8764											
NFKBIL2	4796	broad.mit.edu	37	chr8	145662013	145662013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcgtctccaggtccaggtCcctgcggtacagcttcaccc	5	8	10	18	3	2	0	1	0	1	0	5	0	4	0	5	3	3	2	5	3	1	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr8:145662013C>T	ENST00000409379.3	-	16	1971	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	648					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGTCCAGGTCCCTGCGGTAC	0.682																																						uc011llg.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1942-1944)Gac>Aac		Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.							49	50	50					8																	145662013		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145662013C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1942G>A	8.37:g.145662013C>T	ENSP00000386239:p.Asp648Asn					AK298596_uc011llh.1_Intron	p.D648N	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN			15	1957	-			648					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1942G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630377	0.67015	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46451	0.87	4.73	4.73	0.59995	.	0.193761	0.43579	D	0.000546	T	0.43942	0.1270	L	0.34521	1.04	0.36588	D	0.873933	D	0.60575	0.988	P	0.54815	0.761	T	0.53194	-0.8473	10	0.52906	T	0.07	-17.6206	11.1499	0.48453	0.0:0.8129:0.1871:0.0	.	648	Q96HA7	TONSL_HUMAN	N	648;647	ENSP00000386239:D648N	ENSP00000386239:D648N	D	-	1	0	TONSL	145632821	0.997000	0.39634	0.057000	0.19452	0.635000	0.38103	3.640000	0.54350	2.161000	0.67846	0.462000	0.41574	GAC		0.682	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		T	145662013	C	T	145662013	3	4	128	1	0	0	0	0	1	0	0	0	10382	855	30	3	2238	3	NFKBIL2	8	145662013	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	27491968	145662013	702009	25	8765											
ABO	28	broad.mit.edu	37	chr9	136136731	136136731	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactcaccagaacccccGttccaggcttcctggcatta	8	9	7	17	1	1	1	1	0	0	1	3	1	3	1	5	2	2	4	5	2	2	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr9:136136731G>A	ENST00000453660.2	-	0	156							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CAGAACCCCCGTTCCAGGCTT	0.607																																						uc004cda.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11						c.(145-147)Cgg>Tgg		Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.							49	50	50					9																	136136731		1944	4142	6086			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136136731G>A	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136136731G>A						ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	p.R49W	NM_020469	NP_065202	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	2	170	-			49					B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.145C>T																																																																																					0.607	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		A	136136731	G	A	136136731	1	1	128	0	1	0	0	0	0	0	0	0	97	1144	40	1		1	ABO	9	136136731	RNA	SNP	G	TCGA-14-0786-01B-01D-1492-08		136136731	5076700	26	8766											
ITIH5	80760	broad.mit.edu	37	chr10	7679260	7679260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggatgcgatgcccgCgctctccaggatattcacgt	7	9	11	14	4	2	0	1	0	1	0	4	3	3	2	3	2	2	1	3	2	1	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:7679260C>T	ENST00000256861.6	-	5	661	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	ITIH5_ENST00000397145.2_Missense_Mutation_p.A195T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A195T|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCGATGCCCGCGCTCTCCAGG	0.662																																						uc021pmv.1																			0		p.A195V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(583-585)Gcg>Acg		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.							69	70	70					10																	7679260		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679260C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.583G>A	10.37:g.7679260C>T	ENSP00000256861:p.Ala195Thr					ITIH5_uc001ijr.2_Missense_Mutation_p.A195T	p.A195T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			4	689	-			195					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.583G>A		.	.	.	.	.	.	.	.	.	.	C	0.026	-1.370923	0.01225	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02446	4.83;4.29;4.29	5.88	0.627	0.17675	.	0.346115	0.34959	N	0.003556	T	0.01489	0.0048	.	.	.	0.09310	N	0.999996	B;P	0.43750	0.057;0.816	B;B	0.31101	0.062;0.124	T	0.53872	-0.8377	9	0.27785	T	0.31	-3.3728	6.7379	0.23419	0.594:0.2743:0.1317:0.0	.	195;195	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	195	ENSP00000256861:A195T;ENSP00000380333:A195T;ENSP00000380332:A195T	ENSP00000256861:A195T	A	-	1	0	ITIH5	7719266	0.878000	0.30173	0.002000	0.10522	0.002000	0.02628	1.462000	0.35266	0.127000	0.18452	-0.274000	0.10170	GCG		0.662	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7679260	C	T	7679260	3	4	128	1	0	0	0	0	1	0	0	0	7907	768	27	1	2422	1	ITIH5	10	7679260	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		7679260	127855487	27	8767											
C10orf54	64115	broad.mit.edu	37	chr10	73521395	73521395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcaccatggaccctgtgCtccgagtggtggtgcctgat	6	10	14	11	1	0	1	0	1	0	0	1	3	1	2	4	4	2	2	4	4	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:73521395C>G	ENST00000394957.3	-	2	529	c.471G>C	c.(469-471)gaG>gaC	p.E157D	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	157	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGACCCTGTGCTCCGAGTGGT	0.617																																						uc001jsd.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(469-471)gaG>gaC		Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.							42	35	37					10																	73521395		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521395C>G	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.471G>C	10.37:g.73521395C>G	ENSP00000378409:p.Glu157Asp					CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.E25D	p.E157D	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			1	612	-			157			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.471G>C	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971255	0.74246	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.47177	0.85	5.75	4.84	0.62591	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.373115	0.32935	N	0.005478	T	0.60090	0.2242	M	0.65975	2.015	0.40851	D	0.983755	D;P	0.60575	0.988;0.92	P;P	0.58721	0.844;0.551	T	0.63883	-0.6536	10	0.54805	T	0.06	-12.9211	11.0598	0.47940	0.0:0.8497:0.0:0.1503	.	153;157	Q2TA85;Q9H7M9	.;GI24_HUMAN	D	157;153	ENSP00000378409:E157D	ENSP00000263569:E153D	E	-	3	2	C10orf54	73191401	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	2.306000	0.43673	1.408000	0.46895	0.655000	0.94253	GAG		0.617	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		G	73521395	C	G	73521395	3	3	128	1	0	0	0	0	1	0	0	0	1607	796	28	5	488	5	C10orf54	10	73521395	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	65842135	73521395	62013352	28	8768											
KCNQ1	3784	broad.mit.edu	37	chr11	2592573	2592573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacctcatcgtggtcgtggCctccatggtggtcctctgcg	4	11	13	13	3	2	1	1	0	1	1	6	1	4	1	4	4	1	0	4	4	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:2592573C>T	ENST00000155840.5	+	4	731	c.623C>T	c.(622-624)gCc>gTc	p.A208V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A81V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	208					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTGGTCGTGGCCTCCATGGTG	0.652																																						uc001lwn.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(622-624)gCc>gTc		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	Bepridil(DB01244)|Indapamide(DB00808)						140	110	120					11																	2592573		2201	4299	6500	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2592573C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.623C>T	11.37:g.2592573C>T	ENSP00000155840:p.Ala208Val					KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.A81V	p.A208V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	3	731	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	208					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.623C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611424	0.87258	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.97328	-4.34;-4.34;-4.34	4.46	3.53	0.40419	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	L	0.60067	1.865	0.58432	D	0.999994	D;D	0.76494	0.999;0.991	D;P	0.77557	0.99;0.903	D	0.98057	1.0391	10	0.87932	D	0	-45.8507	13.4877	0.61375	0.0:0.8416:0.1584:0.0	.	81;208	Q14D14;P51787	.;KCNQ1_HUMAN	V	121;208;81	ENSP00000434560:A121V;ENSP00000155840:A208V;ENSP00000334497:A81V	ENSP00000155840:A208V	A	+	2	0	KCNQ1	2549149	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.342000	0.59341	1.204000	0.43247	0.491000	0.48974	GCC		0.652	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2592573	C	T	2592573	3	4	128	1	0	0	0	0	1	0	0	0	8082	739	26	3	646	3	KCNQ1	11	2592573	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		2592573	132413943	29	8769											
LDHAL6A	160287	broad.mit.edu	37	chr11	18487327	18487327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattacccagtacagtcctCactgcaaactgcttattgtt	11	14	5	11	0	1	0	1	0	0	0	2	0	2	0	2	0	5	4	2	0	5	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:18487327C>G	ENST00000280706.2	+	3	1185	c.388C>G	c.(388-390)Cac>Gac	p.H130D	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.H130D	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	130					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GTACAGTCCTCACTGCAAACT	0.383																																						uc001mop.1																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(388-390)Cac>Gac		Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	NADH(DB00157)						124	126	126					11																	18487327		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18487327C>G	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.388C>G	11.37:g.18487327C>G	ENSP00000280706:p.His130Asp					LDHAL6A_uc001moq.2_Missense_Mutation_p.H130D	p.H130D	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN			3	649	+			130					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.388C>G	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.832251	0.00070	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.86769	-2.17;-2.17	3.83	-4.06	0.03986	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.395025	0.22962	U	0.053539	T	0.36908	0.0984	N	0.00038	-2.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63677	-0.6583	10	0.02654	T	1	.	0.5795	0.00709	0.2826:0.1942:0.1278:0.3955	.	130	Q6ZMR3	LDH6A_HUMAN	D	130	ENSP00000379516:H130D;ENSP00000280706:H130D	ENSP00000280706:H130D	H	+	1	0	LDHAL6A	18443903	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.704000	0.05058	-0.615000	0.05679	-0.225000	0.12378	CAC		0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		G	18487327	C	G	18487327	3	3	128	1	0	0	0	0	1	0	0	0	8699	826	29	5	398	5	LDHAL6A	11	18487327	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	15894754	18487327	116519189	30	8770											
ANO5	203859	broad.mit.edu	37	chr11	22215065	22215065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccggatctcctggaagtGttggcggaggaaggtaggac	9	7	17	8	2	1	0	0	0	1	0	2	6	1	5	2	7	0	2	2	7	3	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:22215065G>A	ENST00000324559.8	+	1	344	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	9					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGGAAGTGTTGGCGGAGG	0.667																																						uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(25-27)gtG>gtA		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							55	46	49					11																	22215065		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22215065G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.27G>A	11.37:g.22215065G>A						ANO5_uc001mqj.2_Silent_p.V9V	p.V9V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			0	344	+			9						Silent	SNP	ENST00000324559.8	37	c.27G>A	CCDS31444.1																																																																																				0.667	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22215065	G	A	22215065	2	1	128	1	0	0	0	0	0	0	0	1	700	1364	48	3		3	ANO5	11	22215065	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	3727738	22215065	112791451	31	8771											
CKAP5	9793	broad.mit.edu	37	chr11	46801800	46801800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcttctcatcctcaaagaAcattcgcaaagagggaccaa	15	7	8	11	1	2	2	2	0	1	2	5	3	3	3	2	2	1	2	2	2	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:46801800A>G	ENST00000529230.1	-	20	2423	c.2377T>C	c.(2377-2379)Ttc>Ctc	p.F793L	CKAP5_ENST00000312055.5_Missense_Mutation_p.F793L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F793L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F793L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	793					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCCTCAAAGAACATTCGCAAA	0.428																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.2																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2377-2379)Ttc>Ctc		Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.							85	80	81					11																	46801800		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46801800A>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2377T>C	11.37:g.46801800A>G	ENSP00000432768:p.Phe793Leu					CKAP5_uc009ylg.1_Missense_Mutation_p.F679L|CKAP5_uc001ndj.2_Missense_Mutation_p.F793L|Metazoa_SRP_uc021qiq.1_5'Flank	p.F793L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			19	2503	-			793					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2377T>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521829	0.64747	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.61	4.46	0.54185	Armadillo-type fold (1);	0.044386	0.85682	D	0.000000	T	0.50956	0.1646	L	0.38733	1.17	0.58432	D	0.999998	B;B;B	0.25563	0.003;0.129;0.079	B;B;B	0.29598	0.004;0.104;0.048	T	0.38023	-0.9680	10	0.20519	T	0.43	-9.4484	11.6467	0.51265	0.863:0.0:0.0:0.137	.	793;793;793	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	793	ENSP00000432768:F793L;ENSP00000395302:F793L;ENSP00000310227:F793L;ENSP00000346566:F793L	ENSP00000310227:F793L	F	-	1	0	CKAP5	46758376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.358000	0.79466	0.909000	0.36697	0.533000	0.62120	TTC		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		G	46801800	A	G	46801800	3	3	128	1	0	0	0	0	1	0	0	0	3445	43	2	4	3821	4	CKAP5	11	46801800	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	24586735	46801800	88204716	32	8772											
OR4C3	256144	broad.mit.edu	37	chr11	48346804	48346804	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcttcttctatggctccTaaactcattgctgactcatt	8	18	4	11	0	5	1	2	1	3	0	6	1	6	1	1	1	2	2	1	1	4	8	rs200552736		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:48346804T>C	ENST00000319856.4	+	1	333	c.312T>C	c.(310-312)ccT>ccC	p.P104P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTATGGCTCCTAAACTCATTG	0.463																																						uc010rhv.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(310-312)ccT>ccC		Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.							196	185	189					11																	48346804		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346804T>C	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.312T>C	11.37:g.48346804T>C							p.P104P	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			0	312	+			77					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.312T>C	CCDS31489.1																																																																																				0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		C	48346804	T	C	48346804	2	2	128	1	0	0	0	0	0	0	0	1	11050	1509	53	4		4	OR4C3	11	48346804	Silent	SNP	T	TCGA-14-0786-01B-01D-1492-08	1545004	48346804	86659712	33	8773											
OR10V1	390201	broad.mit.edu	37	chr11	59480721	59480721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaagctgatgatatacaGagcagtcttgtgaacgcgtg	12	10	13	6	2	1	5	0	4	1	1	1	6	1	5	0	0	4	2	0	0	4	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:59480721G>A	ENST00000307552.2	-	1	616	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGATATACAGAGCAGTCTTG	0.498																																						uc001nof.1																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(598-600)Ctg>Ttg		Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.							108	92	98					11																	59480721		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480721G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.598C>T	11.37:g.59480721G>A							p.L200L	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			0	598	-			200					Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.598C>T	CCDS31565.1																																																																																				0.498	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		A	59480721	G	A	59480721	2	1	128	1	0	0	0	0	0	0	0	1	10920	933	33	3		3	OR10V1	11	59480721	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	11133917	59480721	75525795	34	8774											
USP15	9958	broad.mit.edu	37	chr12	62777954	62777954	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatcaactttagtttgTcctgagtgtgctaagatttc	10	17	7	7	0	2	2	2	1	0	1	4	2	3	2	1	0	2	2	1	0	4	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr12:62777954T>C	ENST00000280377.5	+	11	1402	c.1344T>C	c.(1342-1344)tgT>tgC	p.C448C	USP15_ENST00000393654.3_Silent_p.C423C|USP15_ENST00000353364.3_Silent_p.C419C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	448	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTTTAGTTTGTCCTGAGTGTG	0.358																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.2																			0		p.L447L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1342-1344)tgT>tgC		Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.							110	104	106					12																	62777954		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777954T>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1344T>C	12.37:g.62777954T>C						USP15_uc001srb.2_Silent_p.C419C	p.C448C	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1419	+			448					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1344T>C	CCDS58251.1																																																																																				0.358	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		C	62777954	T	C	62777954	2	2	128	1	0	0	0	0	0	0	0	1	17043	1673	58	4		4	USP15	12	62777954	Silent	SNP	T	TCGA-14-0786-01B-01D-1492-08		62777954	71073941	35	8775											
ADAM21	8747	broad.mit.edu	37	chr14	70926319	70926319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgactttcctgtttactgtCgggcttcttatgtatctacg	5	19	8	9	2	2	1	0	1	2	0	4	1	3	1	1	1	2	3	1	1	4	8	rs142273524	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V701V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													c|||	2	0.000399361	0.0015	0	5008	,	,		23033	0		0	False		,,,				2504	0					uc021rvq.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(2101-2103)gtC>gtT		Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.		T		6,4400	11.4+/-27.6	0,6,2197	81	74	77		2103	-2.4	0	14	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ADAM21	NM_003813.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		701/723	70926319	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70926319C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2103C>T	14.37:g.70926319C>T						ADAM21_uc001xmd.3_Silent_p.V701V	p.V701V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	0	2103	+			701					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.2103C>T	CCDS9804.1																																																																																				0.413	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70926319	C	T	70926319	2	4	128	1	0	0	0	0	0	0	0	1	243	871	31	2		2	ADAM21	14	70926319	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08		70926319	36423221	36	8776											
ZDHHC1	29800	broad.mit.edu	37	chr16	67429021	67429021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaaagaagcagaggcgAgcgccagggtagaggcttct	12	4	15	10	3	1	3	0	0	1	3	1	4	1	3	2	3	2	3	2	3	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr16:67429021A>T	ENST00000348579.2	-	10	1455	c.1114T>A	c.(1114-1116)Tcg>Acg	p.S372T	TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	372					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		AGCAGAGGCGAGCGCCAGGGT	0.622																																						uc010vjm.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(1114-1116)Tcg>Acg		Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.							22	24	23					16																	67429021		2198	4300	6498	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67429021A>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1114T>A	16.37:g.67429021A>T	ENSP00000340299:p.Ser372Thr					TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	p.S372T	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	9	1418	-		Ovarian(137;0.223)	372					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.1114T>A	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466160	0.26335	.	.	ENSG00000159714	ENST00000348579	T	0.40476	1.03	3.14	-5.23	0.02798	.	924.597000	0.00166	N	0.000000	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.13853	T	0.58	.	3.2597	0.06844	0.338:0.3549:0.0:0.3071	.	372	Q8WTX9	ZDHC1_HUMAN	T	372	ENSP00000340299:S372T	ENSP00000340299:S372T	S	-	1	0	ZDHHC1	65986522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.011000	0.00647	-1.261000	0.02462	-1.646000	0.00762	TCG		0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		T	67429021	A	T	67429021	3	4	128	1	0	0	0	0	1	0	0	0	17597	304	11	5	351	5	ZDHHC1	16	67429021	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08		67429021	22925732	37	8777											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150169	39150169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcaggtgggcacgcAgggctgaggaatgtggcagg	10	4	20	7	1	0	1	0	1	0	0	0	3	0	3	0	7	1	5	0	7	2	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr17:39150169A>G	ENST00000391586.1	-	1	216	c.181T>C	c.(181-183)Tgc>Cgc	p.C61R		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	61						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				GTGGGCACGCAGGGCTGAGGA	0.627																																						uc002hvr.1																			0		p.C61C(1)		lung(2)|prostate(2)	4						c.(181-183)Tgc>Cgc		Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.							107	78	88					17																	39150169		2203	4294	6497	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150169A>G	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.181T>C	17.37:g.39150169A>G	ENSP00000375428:p.Cys61Arg						p.C61R	NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN			0	217	-		Breast(137;0.00043)	61					Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.181T>C	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379244	0.61735	.	.	ENSG00000212899	ENST00000391586	T	0.21543	2.0	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.45538	0.1347	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.40646	-0.9552	9	0.49607	T	0.09	.	12.2758	0.54735	1.0:0.0:0.0:0.0	.	61	Q9BYR6	KRA33_HUMAN	R	61	ENSP00000375428:C61R	ENSP00000375428:C61R	C	-	1	0	KRTAP3-3	36403695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.201000	0.58439	2.143000	0.66587	0.529000	0.55759	TGC		0.627	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			G	39150169	A	G	39150169	3	3	128	1	0	0	0	0	1	0	0	0	8547	188	7	4	119	4	KRTAP3-3	17	39150169	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08		39150169	42045041	38	8778											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggataaagaagggagttttgCggttcccaggagtgactctg	10	10	15	6	1	1	2	0	1	1	1	2	5	2	5	1	4	1	2	1	4	3	4	rs190733334	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													C|||	3	0.000599042	0	0	5008	,	,		21764	0.003		0	False		,,,				2504	0					uc002knc.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(547-549)gCg>gTg		Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.							224	213	217					18																	6859874		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859874C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.704C>T	18.37:g.6859874C>T	ENSP00000372964:p.Ala235Val					ARHGAP28_uc002kne.3_Missense_Mutation_p.A76V|ARHGAP28_uc010wzi.2_Missense_Mutation_p.A58V|ARHGAP28_uc002knf.3_Missense_Mutation_p.A67V	p.A183V	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN			4	3759	+		Colorectal(10;0.168)	58					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.548C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		0.433	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		T	6859874	C	T	6859874	3	4	128	1	0	0	0	0	1	0	0	0	877	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		6859874	71217374	39	8779											
ABCA7	10347	broad.mit.edu	37	chr19	1042173	1042173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggctgcacgcagcaCgggtgaggaggccggggggc	6	3	22	10	3	0	2	0	2	0	0	0	3	0	3	1	7	2	5	1	7	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:1042173C>T	ENST00000263094.6	+	5	644	c.413C>T	c.(412-414)aCg>aTg	p.T138M	ABCA7_ENST00000433129.1_Missense_Mutation_p.T138M|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	138					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGCAGCACGGGTGAGGAG	0.692																																						uc002lqw.4																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(412-414)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.							10	12	12					19																	1042173		2192	4257	6449	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042173C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.413C>T	19.37:g.1042173C>T	ENSP00000263094:p.Thr138Met					ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.T138M	p.T138M	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	644	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	138					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.413C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774034	0.31411	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	D;D;D;D	0.98602	-2.21;-5.02;-4.97;-2.21	3.46	-2.45	0.06481	.	.	.	.	.	D	0.92234	0.7537	N	0.14661	0.345	0.09310	N	1	P;P	0.49862	0.929;0.474	B;B	0.38500	0.275;0.032	D	0.88637	0.3173	9	0.33940	T	0.23	.	6.1346	0.20225	0.3192:0.3204:0.3603:0.0	.	138;138	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	M	138;138;136;138	ENSP00000263094:T138M;ENSP00000431473:T138M;ENSP00000433545:T136M;ENSP00000414062:T138M	ENSP00000263094:T138M	T	+	2	0	ABCA7	993173	0.712000	0.27916	0.000000	0.03702	0.022000	0.10575	0.854000	0.27791	-0.235000	0.09767	0.561000	0.74099	ACG		0.692	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1042173	C	T	1042173	3	4	128	1	0	0	0	0	1	0	0	0	37	536	19	1	427	1	ABCA7	19	1042173	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		1042173	58086810	40	8780											
PPM1N	147699	broad.mit.edu	37	chr19	46003206	46003206	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctccaccggcttcaGggcagcctggacaacatgac	8	10	9	14	1	2	1	1	1	1	0	3	2	2	2	3	3	2	2	3	3	1	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:46003206G>C	ENST00000451287.2	+	2	939		c.e2-1		PPM1N_ENST00000396735.2_Splice_Site|RTN2_ENST00000344680.4_5'Flank|PPM1N_ENST00000401593.1_5'Flank|PPM1N_ENST00000396736.2_5'Flank|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000401705.1_Splice_Site|PPM1N_ENST00000396737.2_Splice_Site|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000324688.4_3'UTR|RTN2_ENST00000590526.1_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)								magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCGGCTTCAGGGCAGCCTGG	0.607																																						uc002pce.3																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						c.e2-1		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.							11	11	11					19																	46003206		1854	4090	5944	SO:0001630	splice_region_variant	147699						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity	g.chr19:46003206G>C	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.940-1G>C	19.37:g.46003206G>C						RTN2_uc002pcb.3_5'Flank|RTN2_uc002pcc.3_5'Flank|RTN2_uc002pcd.3_5'Flank|PPM1N_uc002pcf.3_Splice_Site	p.G314_splice	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN			2	940	+			314			PP2C-like.		Q6P662	Splice_Site	SNP	ENST00000451287.2	37	c.940_splice	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119849	0.56613	.	.	ENSG00000213889	ENST00000451287;ENST00000396734	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1394	0.59426	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPM1N	50695046	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	6.699000	0.74613	2.230000	0.72887	0.557000	0.71058	.		0.607	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	Intron	C	46003206	G	C	46003206	5	2	128	1	0	0	0	0	0	0	1	0	12346	1014	35	5	945	5	PPM1N	19	46003206	Splice_Site	SNP	G	TCGA-14-0786-01B-01D-1492-08	44961033	46003206	13125777	41	8781											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701423	56701423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggtggactcgtgggCgaaccgcttttggcagacgt	7	10	15	9	4	0	1	0	0	0	1	1	3	0	2	1	4	1	3	1	4	2	3	rs200971173		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:56701423C>T	ENST00000586855.2	-	5	1574	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A421T			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	421					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GACTCGTGGGCGAACCGCTTT	0.567																																						uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1261-1263)Gcc>Acc		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.		C	THR/ALA	0,4292		0,0,2146	86	88	87		1261	-5	0	19		87	8,8524		0,8,4258	yes	missense	ZSCAN5B	NM_001080456.2	58	0,8,6404	TT,TC,CC		0.0938,0.0,0.0624	benign	421/496	56701423	8,12816	2146	4266	6412	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701423C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1261G>A	19.37:g.56701423C>T	ENSP00000466072:p.Ala421Thr						p.A421T	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			3	1261	-			421						Missense_Mutation	SNP	ENST00000586855.2	37	c.1261G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114939	0.01799	0.0	9.38E-4	ENSG00000197213	ENST00000358992	T	0.07688	3.17	3.15	-5.02	0.02982	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.12502	0.225	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.43814	-0.9368	9	0.02654	T	1	.	1.0637	0.01606	0.2976:0.3538:0.1499:0.1986	.	421	A6NJL1	ZSA5B_HUMAN	T	421	ENSP00000351883:A421T	ENSP00000351883:A421T	A	-	1	0	ZSCAN5B	61393235	0.001000	0.12720	0.004000	0.12327	0.046000	0.14306	-0.202000	0.09451	-1.293000	0.02362	0.306000	0.20318	GCC		0.567	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		T	56701423	C	T	56701423	3	4	128	1	0	0	0	0	1	0	0	0	18236	768	27	1	230	1	ZSCAN5B	19	56701423	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	10698217	56701423	2427560	42	8782											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859635	31859635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatagcccagtctgcagaaGctgccacatccacagccgta	11	6	8	16	1	1	1	0	0	1	1	2	1	2	1	5	0	5	3	5	0	3	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:31859635G>T	ENST00000334055.3	-	1	120	c.33C>A	c.(31-33)agC>agA	p.S11R		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	11						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGCAGAAGCTGCCACATC	0.572																																						uc011acy.2																			0		p.G10S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(31-33)agC>agA		Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.							147	144	145					21																	31859635		2203	4300	6503	SO:0001583	missense	337969					intermediate filament		g.chr21:31859635G>T	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"Keratin associated proteins"	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.33C>A	21.37:g.31859635G>T	ENSP00000335660:p.Ser11Arg						p.S11R	NM_181608	NP_853639	Q3LHN2	KR192_HUMAN			0	33	-			11						Missense_Mutation	SNP	ENST00000334055.3	37	c.33C>A	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	1.161	-0.643879	0.03531	.	.	ENSG00000186965	ENST00000334055	T	0.15372	2.43	4.31	3.42	0.39159	.	0.979003	0.08356	N	0.958422	T	0.33147	0.0853	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.59546	0.859	T	0.11542	-1.0583	9	0.87932	D	0	.	8.4474	0.32849	0.1081:0.0:0.8919:0.0	.	11	Q3LHN2	KR192_HUMAN	R	11	ENSP00000335660:S11R	ENSP00000335660:S11R	S	-	3	2	KRTAP19-2	30781506	0.525000	0.26290	0.007000	0.13788	0.007000	0.05969	1.672000	0.37523	1.185000	0.42971	-0.137000	0.14449	AGC		0.572	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			T	31859635	G	T	31859635	3	4	128	1	0	0	0	0	1	0	0	0	8529	962	34	5	127	5	KRTAP19-2	21	31859635	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		31859635	16270260	43	8783											
TMPRSS3	64699	broad.mit.edu	37	chr21	43803237	43803237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgaaggctggcctgccaGggccactgcgagagcaagga	11	4	15	11	1	0	2	0	1	0	1	0	4	0	3	3	4	4	2	3	4	3	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:43803237G>A	ENST00000291532.3	-	8	1642	c.687C>T	c.(685-687)ccC>ccT	p.P229P	TMPRSS3_ENST00000398397.3_Silent_p.P229P|TMPRSS3_ENST00000433957.2_Silent_p.P229P|TMPRSS3_ENST00000398405.1_Silent_p.P227P|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Silent_p.P313P	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TGGCCTGCCAGGGCCACTGCG	0.587																																						uc002zbb.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(685-687)ccC>ccT		Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.							97	79	85					21																	43803237		2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43803237G>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.687C>T	21.37:g.43803237G>A						TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.P102P|TMPRSS3_uc002zba.2_Silent_p.P102P|TMPRSS3_uc002zbc.2_Silent_p.P229P|TMPRSS3_uc002zbd.3_Silent_p.P229P	p.P229P	NM_024022	NP_076927	P57727	TMPS3_HUMAN			7	888	-			229			Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.687C>T	CCDS13686.1																																																																																				0.587	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			A	43803237	G	A	43803237	2	1	128	1	0	0	0	0	0	0	0	1	16245	987	35	3		3	TMPRSS3	21	43803237	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	11943602	43803237	4326658	44	8784											
C22orf24	25775	broad.mit.edu	37	chr22	32334001	32334001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccaggtcttgacatggTccaaagacttgtcttttgat	8	14	9	10	1	2	3	0	2	2	1	4	3	4	3	2	2	0	1	2	2	1	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr22:32334001T>C	ENST00000248984.3	-	2	218	c.52A>G	c.(52-54)Acc>Gcc	p.T18A	C22orf24_ENST00000543051.1_Missense_Mutation_p.T85A|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	18						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						CTTGACATGGTCCAAAGACTT	0.473																																						uc003aly.3																			0				central_nervous_system(1)|urinary_tract(1)	2						c.(52-54)Acc>Gcc		Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.							212	221	218					22																	32334001		2027	4188	6215	SO:0001583	missense	25775					integral to membrane		g.chr22:32334001T>C		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.52A>G	22.37:g.32334001T>C	ENSP00000248984:p.Thr18Ala					C22orf24_uc003alx.3_Non-coding_Transcript	p.T18A	NM_015372	NP_056187	Q9Y442	CV024_HUMAN			1	219	-			18					B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	c.52A>G	CCDS46693.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973714	0.34848	.	.	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.39787	1.06;1.06	3.35	2.29	0.28610	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	P	0.40534	0.72	B	0.35353	0.201	T	0.08066	-1.0740	9	0.87932	D	0	.	6.6813	0.23121	0.0:0.0:0.244:0.756	.	18	Q9Y442	CV024_HUMAN	A	18;85	ENSP00000248984:T18A;ENSP00000437643:T85A	ENSP00000248984:T18A	T	-	1	0	C22orf24	30664001	0.001000	0.12720	0.510000	0.27712	0.299000	0.27559	0.445000	0.21677	0.648000	0.30732	0.533000	0.62120	ACC		0.473	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372		C	32334001	T	C	32334001	3	2	128	1	0	0	0	0	1	0	0	0	2138	1667	58	4	438	4	C22orf24	22	32334001	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		32334001	18970565	45	8785											
NLGN4X	57502	broad.mit.edu	37	chrX	5811156	5811156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgagcgatatcatttGtggtgtttctctggggactg	6	15	15	5	1	2	1	1	1	1	0	3	4	2	3	0	4	1	1	0	4	1	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:5811156G>T	ENST00000381095.3	-	6	2780	c.2153C>A	c.(2152-2154)aCa>aAa	p.T718K	NLGN4X_ENST00000381093.2_Missense_Mutation_p.T738K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T718K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T718K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T718K	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	718					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GATATCATTTGTGGTGTTTCT	0.522																																						uc010ndi.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2263-2265)aCa>aAa		Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.							150	114	126					X																	5811156		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811156G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2153C>A	X.37:g.5811156G>T	ENSP00000370485:p.Thr718Lys					NLGN4X_uc004crp.3_Missense_Mutation_p.T738K|NLGN4X_uc010ndh.3_Missense_Mutation_p.T718K|NLGN4X_uc004crq.3_Missense_Mutation_p.T718K|NLGN4X_uc004crr.3_Missense_Mutation_p.T718K|NLGN4X_uc010ndj.3_Missense_Mutation_p.T718K	p.T755K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2728	-			718					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2264C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919459	0.02396	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	3.82	3.82	0.43975	.	.	.	.	.	T	0.14184	0.0343	L	0.33485	1.01	0.09310	N	1	B;B;P	0.36315	0.036;0.224;0.547	B;B;B	0.32624	0.028;0.045;0.149	T	0.10870	-1.0611	9	0.40728	T	0.16	.	14.222	0.65833	0.0:0.0:1.0:0.0	.	775;718;738	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	K	718;738;718;718;718	ENSP00000370485:T718K;ENSP00000370483:T738K;ENSP00000275857:T718K;ENSP00000370482:T718K;ENSP00000439203:T718K	ENSP00000275857:T718K	T	-	2	0	NLGN4X	5821156	1.000000	0.71417	0.002000	0.10522	0.063000	0.16089	6.336000	0.72954	1.508000	0.48769	0.513000	0.50165	ACA		0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		T	5811156	G	T	5811156	3	4	128	1	0	0	0	0	1	0	0	0	10464	1377	48	5	301	5	NLGN4X	23	5811156	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		5811156	149459404	46	8786											
SSX3	10214	broad.mit.edu	37	chrX	48209558	48209558	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcttcttgggcatgatCtttataatgtgaaggtcata	9	15	11	6	0	3	2	1	2	2	0	3	2	3	2	0	3	0	3	0	3	4	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48209558C>T	ENST00000298396.2	-	6	383		c.e6-1		SSX3_ENST00000376895.1_Splice_Site|SSX3_ENST00000376893.3_Splice_Site	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						TGGGCATGATCTTTATAATGT	0.433																																					Colon(37;227 826 19399 40970 48007)	uc004djd.1																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.e6-1		Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.							208	202	204					X																	48209558		2203	4300	6503	SO:0001630	splice_region_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209558C>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.331-1G>A	X.37:g.48209558C>T						SSX3_uc004dje.3_Splice_Site_p.I111_splice	p.I111_splice	NM_021014	NP_066294	Q99909	SSX3_HUMAN			6	425	-			111					O60223|Q5JQZ3|Q9BRW7	Splice_Site	SNP	ENST00000298396.2	37	c.331_splice	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	c	4.610	0.113442	0.08831	.	.	ENSG00000165584	ENST00000298396;ENST00000376895;ENST00000376893	.	.	.	1.72	0.816	0.18768	.	.	.	.	.	.	.	.	.	.	.	0.21064	N	0.999792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6714	0.08276	0.0:0.7422:0.0:0.2578	.	.	.	.	.	-1	.	.	.	-	.	.	SSX3	48094502	0.058000	0.20735	0.010000	0.14722	0.180000	0.23129	1.655000	0.37345	0.195000	0.20347	0.171000	0.16805	.		0.433	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014	Intron	T	48209558	C	T	48209558	5	4	128	1	0	0	0	0	0	0	1	0	15204	927	32	3	295	3	SSX3	23	48209558	Splice_Site	SNP	C	TCGA-14-0786-01B-01D-1492-08	42398402	48209558	107061002	47	8787											
KCND1	3750	broad.mit.edu	37	chrX	48822565	48822565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggcggatggcgcggcGcttggccctgcgagggcagc	5	4	20	12	5	0	0	0	0	0	0	0	2	0	1	1	7	2	3	1	7	1	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48822565G>A	ENST00000218176.3	-	5	2912	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	KCND1_ENST00000376477.1_Missense_Mutation_p.R162C	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	539					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	ATGGCGCGGCGCTTGGCCCTG	0.682																																						uc004dlx.1																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1615-1617)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.							25	27	26					X																	48822565		2202	4300	6502	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48822565G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1615C>T	X.37:g.48822565G>A	ENSP00000218176:p.Arg539Cys					KCND1_uc004dlw.1_Missense_Mutation_p.R162C	p.R539C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			4	3188	-			539					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1615C>T	CCDS14314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695204|3.695204	0.68386|0.68386	.|.	.|.	ENSG00000102057|ENSG00000102057	ENST00000419374|ENST00000376477;ENST00000218176	.|D;D	.|0.84800	.|-1.9;-1.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Potassium channel, voltage dependent, Kv4, C-terminal (1);	.|0.058943	.|0.64402	.|D	.|0.000003	D|D	0.90317|0.90317	0.6971|0.6971	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.65443	.|0.935	D|D	0.90504|0.90504	0.4476|0.4476	5|10	.|0.51188	.|T	.|0.08	.|.	16.9484|16.9484	0.86236|0.86236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|539	.|Q9NSA2	.|KCND1_HUMAN	V|C	110|162;539	.|ENSP00000365660:R162C;ENSP00000218176:R539C	.|ENSP00000218176:R539C	A|R	-|-	2|1	0|0	KCND1|KCND1	48707509|48707509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.545000|3.545000	0.53648|0.53648	2.265000|2.265000	0.75225|0.75225	0.523000|0.523000	0.50628|0.50628	GCG|CGC		0.682	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		A	48822565	G	A	48822565	3	1	128	1	0	0	0	0	1	0	0	0	8018	1087	38	1	336	1	KCND1	23	48822565	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	613007	48822565	106447995	48	8788											
KIAA1210	57481	broad.mit.edu	37	chrX	118222577	118222577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggtgtctgagaggcagGtcttcctctgagctgctgca	6	10	15	10	0	3	2	0	2	3	1	4	3	4	2	1	3	3	5	1	3	0	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:118222577G>A	ENST00000402510.2	-	11	2615	c.2616C>T	c.(2614-2616)gaC>gaT	p.D872D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	872										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAGAGGCAGGTCTTCCTCTG	0.448																																						uc004era.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2614-2616)gaC>gaT		Homo sapiens KIAA1210 (KIAA1210), mRNA.							51	49	49					X																	118222577		1943	4113	6056	SO:0001819	synonymous_variant	57481							g.chrX:118222577G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2616C>T	X.37:g.118222577G>A							p.D872D	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			10	2616	-			872					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.2616C>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	2.332	-0.353117	0.05173	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.34	-8.67	0.00863	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05338	-1.0891	4	.	.	.	.	2.7954	0.05400	0.0926:0.4497:0.2257:0.2319	.	.	.	.	S	279	.	.	P	-	1	0	KIAA1210	118106605	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-4.986000	0.00163	-4.977000	0.00025	-1.002000	0.02502	CCT		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		A	118222577	G	A	118222577	2	1	128	1	0	0	0	0	0	0	0	1	8214	1252	44	3		3	KIAA1210	23	118222577	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	69400012	118222577	37047983	49	8789											
MAGEC2	51438	broad.mit.edu	37	chrX	141291256	141291256	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaagtaatctttgtacTtgatgacaatcatcagcatc	14	12	7	8	0	3	2	2	2	1	0	4	3	3	3	0	1	2	3	0	1	4	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:141291256T>G	ENST00000247452.3	-	3	865	c.518A>C	c.(517-519)aAg>aCg	p.K173T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	173	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTGTACTTGATGACAAT	0.478										HNSCC(46;0.14)																												uc022cfj.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(517-519)aAg>aCg		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							173	165	168					X																	141291256		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291256T>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.518A>C	X.37:g.141291256T>G	ENSP00000354660:p.Lys173Thr	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.K173T	p.K173T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	518	-	Acute lymphoblastic leukemia(192;6.56e-05)		173			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.518A>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	5.179	0.218512	0.09810	.	.	ENSG00000046774	ENST00000247452	T	0.05649	3.41	0.97	-1.94	0.07571	.	0.344132	0.27691	U	0.018253	T	0.08980	0.0222	L	0.35793	1.09	0.09310	N	1	B	0.27117	0.168	P	0.47118	0.538	T	0.45205	-0.9277	10	0.87932	D	0	.	4.4848	0.11785	0.0:0.5085:0.0:0.4915	.	173	Q9UBF1	MAGC2_HUMAN	T	173	ENSP00000354660:K173T	ENSP00000354660:K173T	K	-	2	0	MAGEC2	141118922	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.325000	0.07976	-0.907000	0.03862	-0.832000	0.03076	AAG		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		G	141291256	T	G	141291256	3	3	128	1	0	0	0	0	1	0	0	0	9181	1609	56	5	607	5	MAGEC2	23	141291256	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08	23068679	141291256	13979304	50	8790											
MAGEA6	4105	broad.mit.edu	37	chrX	151870086	151870086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactacctggagtaccGgcaggtccccggcagtgatc	10	6	13	12	2	0	1	0	1	0	0	2	3	1	3	4	5	3	3	4	5	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:151870086G>A	ENST00000329342.5	+	3	1001	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522																																						uc022chf.1																			1	Substitution - Missense(1)	p.R259Q(2)|p.R259R(1)	breast(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(775-777)cGg>cAg		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.							127	129	128					X																	151870086		2203	4298	6501	SO:0001583	missense	4105						protein binding	g.chrX:151870086G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.776G>A	X.37:g.151870086G>A	ENSP00000329199:p.Arg259Gln					MAGEA6_uc004ffq.1_Missense_Mutation_p.R259Q|MAGEA6_uc004ffr.1_Missense_Mutation_p.R259Q	p.R259Q	NM_175868	NP_787064	P43360	MAGA6_HUMAN			0	776	+	Acute lymphoblastic leukemia(192;6.56e-05)		259			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.776G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	5.557	0.287720	0.10513	.	.	ENSG00000197172	ENST00000329342	T	0.05786	3.39	0.605	-0.541	0.11858	.	.	.	.	.	T	0.04227	0.0117	L	0.53249	1.67	0.09310	N	1	P	0.44986	0.847	B	0.26310	0.068	T	0.38585	-0.9654	8	0.35671	T	0.21	.	.	.	.	.	259	P43360	MAGA6_HUMAN	Q	259	ENSP00000329199:R259Q	ENSP00000329199:R259Q	R	+	2	0	MAGEA6	151620742	0.000000	0.05858	0.008000	0.14137	0.156000	0.22039	-1.148000	0.03185	-0.309000	0.08779	0.181000	0.17075	CGG		0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		A	151870086	G	A	151870086	3	1	128	1	0	0	0	0	1	0	0	0	9170	1116	39	2	778	2	MAGEA6	23	151870086	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	10578830	151870086	3400474	51	8791											
MRTO4	51154	broad.mit.edu	37	chr1	19584431	19584431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagttcccccactccaTggagccacagctcaggcagc	9	5	11	16	0	1	0	1	0	0	0	3	2	3	2	4	3	4	4	4	3	0	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:19584431T>G	ENST00000330263.4	+	6	743	c.446T>G	c.(445-447)aTg>aGg	p.M149R		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	149					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACTCCATGGAGCCACAG	0.597																																					GBM(192;2418 3032 7540 48714)	uc001bbs.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(445-447)aTg>aGg		Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.							51	57	55					1																	19584431		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584431T>G	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.446T>G	1.37:g.19584431T>G	ENSP00000364320:p.Met149Arg						p.M149R	NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	701	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	149					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.446T>G	CCDS191.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000248	0.74818	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	M	0.87328	2.875	0.80722	D	1	P	0.48640	0.913	P	0.45232	0.474	T	0.78481	-0.2187	9	0.72032	D	0.01	-30.1326	15.1888	0.73025	0.0:0.0:0.0:1.0	.	149	Q9UKD2	MRT4_HUMAN	R	149	.	ENSP00000364320:M149R	M	+	2	0	MRTO4	19457018	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.497000	0.81536	2.263000	0.75096	0.533000	0.62120	ATG		0.597	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		G	19584431	T	G	19584431	3	3	129	1	0	0	0	0	1	0	0	0	9852	1464	51	5	468	5	MRTO4	1	19584431	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08		19584431	229666190	1	8792											
SF3A3	10946	broad.mit.edu	37	chr1	38435290	38435290	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggttgtaaatgatctCgttctcttcatcttcactct	6	19	7	9	1	6	1	2	1	4	0	8	1	6	1	0	2	0	3	0	2	2	6			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:38435290C>A	ENST00000373019.4	-	13	2078	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	SF3A3_ENST00000448721.2_Nonsense_Mutation_p.E322*	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	375					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAATGATCTCGTTCTCTTCA	0.468																																						uc001cci.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(1123-1125)Gag>Tag		Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.							272	235	248					1																	38435290		2203	4300	6503	SO:0001587	stop_gained	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38435290C>A	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1123G>T	1.37:g.38435290C>A	ENSP00000362110:p.Glu375*					SF3A3_uc010oik.2_Nonsense_Mutation_p.E322*	p.E375*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			12	1247	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	375					D3DPT5|Q15460|Q5VT87	Nonsense_Mutation	SNP	ENST00000373019.4	37	c.1123G>T	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	46	12.495689	0.99672	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-25.3599	19.7862	0.96440	0.0:1.0:0.0:0.0	.	.	.	.	X	375;322	.	ENSP00000362110:E375X	E	-	1	0	SF3A3	38207877	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.382000	0.79729	2.769000	0.95229	0.655000	0.94253	GAG		0.468	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		A	38435290	C	A	38435290	4	1	129	1	0	0	0	0	0	1	0	0	14148	893	31	5	402	5	SF3A3	1	38435290	Nonsense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	18850859	38435290	210815331	2	8793											
HMCN1	83872	broad.mit.edu	37	chr1	186099788	186099788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaattagccacagaatcCggcaactgggcaatggctcc	12	8	10	11	1	0	2	0	1	0	1	2	2	2	2	3	3	2	3	3	3	5	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:186099788C>T	ENST00000271588.4	+	85	13418	c.13189C>T	c.(13189-13191)Cgg>Tgg	p.R4397W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4397W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4397	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACAGAATCCGGCAACTGGG	0.507																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13189-13191)Cgg>Tgg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							94	95	95					1																	186099788		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099788C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13189C>T	1.37:g.186099788C>T	ENSP00000271588:p.Arg4397Trp					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	p.R4397W	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			84	13418	+			4397			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13189C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141667	0.77775	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68903	-0.36;-0.36	5.48	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315788	0.35805	N	0.002969	T	0.74397	0.3711	L	0.56199	1.76	0.47153	D	0.99933	D	0.67145	0.996	P	0.60286	0.872	T	0.76719	-0.2856	10	0.62326	D	0.03	.	13.1811	0.59655	0.4111:0.5889:0.0:0.0	.	4397	Q96RW7	HMCN1_HUMAN	W	4397	ENSP00000271588:R4397W;ENSP00000356462:R4397W	ENSP00000271588:R4397W	R	+	1	2	HMCN1	184366411	0.998000	0.40836	0.909000	0.35828	0.747000	0.42532	3.037000	0.49775	1.405000	0.46838	0.591000	0.81541	CGG		0.507	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186099788	C	T	186099788	3	4	129	1	0	0	0	0	1	0	0	0	7220	643	23	2	13527	2	HMCN1	1	186099788	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	147664498	186099788	63150833	3	8794											
DENND1B	163486	broad.mit.edu	37	chr1	197522236	197522236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagttttgccagtcgaccatCgataaactagaattaaaaag	16	11	7	7	2	0	1	0	0	0	1	2	3	0	1	2	0	2	1	2	0	8	6			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:197522236C>T	ENST00000367396.3	-	16	1325	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	DENND1B_ENST00000235453.4_Missense_Mutation_p.D356N|DENND1B_ENST00000400967.2_Missense_Mutation_p.D356N	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	386	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGTCGACCATCGATAAACTAG	0.303																																						uc021pgu.1																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(1156-1158)Gat>Aat		Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.							78	73	74					1																	197522236		1809	4068	5877	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197522236C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1156G>A	1.37:g.197522236C>T	ENSP00000356366:p.Asp386Asn					DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Missense_Mutation_p.D386N|DENND1B_uc001gue.3_Missense_Mutation_p.D356N	p.D386N	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN			15	1494	-			386			dDENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.1156G>A	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233119	0.79688	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T;T	0.53206	0.63;0.85;0.85;0.85	5.59	5.59	0.84812	dDENN (3);	0.047266	0.85682	D	0.000000	T	0.61627	0.2362	M	0.79258	2.445	0.50039	D	0.999842	P;P;B	0.47841	0.901;0.798;0.314	P;P;B	0.48982	0.597;0.466;0.232	T	0.66674	-0.5864	10	0.87932	D	0	-21.387	18.2005	0.89836	0.0:1.0:0.0:0.0	.	386;386;356	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	N	26;386;366;356;386;356	ENSP00000375839:D26N;ENSP00000235453:D356N;ENSP00000356366:D386N;ENSP00000383751:D356N	ENSP00000235453:D356N	D	-	1	0	DENND1B	195788859	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.582000	0.74049	2.801000	0.96364	0.650000	0.86243	GAT		0.303	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		T	197522236	C	T	197522236	3	4	129	1	0	0	0	0	1	0	0	0	4427	884	31	2	1244	2	DENND1B	1	197522236	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	11422448	197522236	51728385	4	8795											
RYR2	6262	broad.mit.edu	37	chr1	237791221	237791221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccatcggcagtatgacgGcattgggggtcttgttcggg	5	11	16	9	3	1	1	0	1	1	0	4	1	2	1	1	5	0	5	1	5	1	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:237791221G>A	ENST00000366574.2	+	41	6598	c.6281G>A	c.(6280-6282)gGc>gAc	p.G2094D	RYR2_ENST00000542537.1_Missense_Mutation_p.G2078D|RYR2_ENST00000360064.6_Missense_Mutation_p.G2092D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2094	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTATGACGGCATTGGGGGT	0.557																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6280-6282)gGc>gAc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							77	76	76					1																	237791221		1974	4143	6117	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791221G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6281G>A	1.37:g.237791221G>A	ENSP00000355533:p.Gly2094Asp						p.G2094D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6401	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2094			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6281G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965842	0.92855	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97089	-4.24;-4.21;-4.23	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	D	0.98623	0.9539	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99564	1.0969	10	0.72032	D	0.01	.	19.0363	0.92980	0.0:0.0:1.0:0.0	.	2094	Q92736	RYR2_HUMAN	D	2094;2092;2078	ENSP00000355533:G2094D;ENSP00000353174:G2092D;ENSP00000443798:G2078D	ENSP00000353174:G2092D	G	+	2	0	RYR2	235857844	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.781000	0.99029	2.571000	0.86741	0.591000	0.81541	GGC		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237791221	G	A	237791221	3	1	129	1	0	0	0	0	1	0	0	0	13769	1203	42	3	6443	3	RYR2	1	237791221	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	40268985	237791221	11459400	5	8796											
VPS54	51542	broad.mit.edu	37	chr2	64147109	64147109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacatctgcttgcttccagCgctcattgtctaagaggagg	9	11	11	10	1	3	1	1	0	2	1	4	3	4	2	1	2	4	3	1	2	2	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:64147109C>T	ENST00000272322.4	-	15	2226	c.2072G>A	c.(2071-2073)cGc>cAc	p.R691H	VPS54_ENST00000354504.3_Missense_Mutation_p.R538H|VPS54_ENST00000409558.4_Missense_Mutation_p.R679H			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	691					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTGCTTCCAGCGCTCATTGTC	0.393																																						uc002scq.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2071-2073)cGc>cAc		Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.							69	68	68					2																	64147109		2203	4300	6503	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64147109C>T	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2072G>A	2.37:g.64147109C>T	ENSP00000272322:p.Arg691His					VPS54_uc002scp.3_Missense_Mutation_p.R679H|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.R176H|VPS54_uc010fct.3_Missense_Mutation_p.R538H	p.R691H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			14	2235	-			691					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.2072G>A	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037125	0.93630	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.35421	1.31;1.31;1.32	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.943;0.975	T	0.67273	-0.5712	10	0.51188	T	0.08	.	18.417	0.90574	0.0:1.0:0.0:0.0	.	538;691;679	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	H	538;691;679;679;691	ENSP00000346499:R538H;ENSP00000272322:R691H;ENSP00000386980:R679H	ENSP00000272322:R691H	R	-	2	0	VPS54	64000613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.564000	0.82326	2.332000	0.79248	0.650000	0.86243	CGC		0.393	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		T	64147109	C	T	64147109	3	4	129	1	0	0	0	0	1	0	0	0	17213	768	27	1	897	1	VPS54	2	64147109	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		64147109	179052264	6	8797											
RGPD4	285190	broad.mit.edu	37	chr2	108455386	108455386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaaagagcagcaaaacTtttcccaggaagtcctgcaa	14	7	11	9	0	0	1	0	0	0	1	2	3	2	3	2	3	4	3	2	3	5	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:108455386T>A	ENST00000408999.3	+	4	448	c.371T>A	c.(370-372)cTt>cAt	p.L124H	RGPD4_ENST00000354986.4_Missense_Mutation_p.L124H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	124					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGCAAAACTTTTCCCAGGA	0.333																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(370-372)cTt>cAt		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							129	126	127					2																	108455386		692	1580	2272	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108455386T>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.371T>A	2.37:g.108455386T>A	ENSP00000386810:p.Leu124His					RGPD4_uc002tdu.3_5'UTR	p.L124H	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			3	453	+			124					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.371T>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	t	4.743	0.138218	0.09083	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.49720	0.77;0.77	2.5	1.28	0.21552	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.62648	0.2445	M	0.72894	2.215	0.28490	N	0.914545	D	0.76494	0.999	D	0.83275	0.996	T	0.53823	-0.8384	9	0.87932	D	0	-16.4748	6.9047	0.24303	0.2065:0.0:0.0:0.7935	.	124	Q7Z3J3	RGPD4_HUMAN	H	124;124;67	ENSP00000347081:L124H;ENSP00000386810:L124H	ENSP00000347081:L124H	L	+	2	0	RGPD4	107821818	1.000000	0.71417	0.994000	0.49952	0.071000	0.16799	3.191000	0.50981	0.202000	0.20498	-1.436000	0.01078	CTT		0.333	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108455386	T	A	108455386	3	1	129	1	0	0	0	0	1	0	0	0	13288	1609	56	5	385	5	RGPD4	2	108455386	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08	44308277	108455386	134743987	7	8798											
GTDC1	79712	broad.mit.edu	37	chr2	144765034	144765034	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagggccatggacagaAccgcaccgccatttccttta	12	7	10	12	2	0	1	0	0	0	1	1	3	1	3	5	3	1	1	5	3	4	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:144765034A>T	ENST00000392869.2	-	6	742	c.590T>A	c.(589-591)gTt>gAt	p.V197D	GTDC1_ENST00000542155.1_Missense_Mutation_p.V197D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.V197D|GTDC1_ENST00000344850.4_Missense_Mutation_p.V197D|GTDC1_ENST00000392867.3_Missense_Mutation_p.V197D|GTDC1_ENST00000409214.1_Missense_Mutation_p.V197D|GTDC1_ENST00000463875.2_Missense_Mutation_p.V68D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	197					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CATGGACAGAACCGCACCGCC	0.403																																						uc002tvp.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(589-591)gTt>gAt		Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.							75	75	75					2																	144765034		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144765034A>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.590T>A	2.37:g.144765034A>T	ENSP00000376608:p.Val197Asp					GTDC1_uc002tvo.3_Missense_Mutation_p.V197D|GTDC1_uc021vqf.1_Missense_Mutation_p.V197D|GTDC1_uc010fnn.3_Missense_Mutation_p.V197D|GTDC1_uc002tvs.3_Missense_Mutation_p.V165D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.V197D|GTDC1_uc010fno.3_Missense_Mutation_p.V68D|GTDC1_uc002tvt.2_Missense_Mutation_p.V197D	p.V197D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	6	869	-			197					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.590T>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686865	0.29962	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.42513	0.98;0.98;0.99;0.98;0.99;0.98;0.97	5.42	4.53	0.55603	.	0.978113	0.08441	N	0.945510	T	0.32102	0.0818	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.30973	0.095;0.302;0.009;0.302	B;B;B;B	0.24155	0.032;0.043;0.004;0.051	T	0.17531	-1.0366	10	0.34782	T	0.22	-3.2237	8.1806	0.31309	0.0841:0.0:0.7508:0.165	.	197;197;197;197	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	D	197;197;197;197;197;197;68	ENSP00000376608:V197D;ENSP00000386581:V197D;ENSP00000376606:V197D;ENSP00000438323:V197D;ENSP00000241391:V197D;ENSP00000339750:V197D;ENSP00000437964:V68D	ENSP00000241391:V197D	V	-	2	0	GTDC1	144481504	0.002000	0.14202	0.004000	0.12327	0.030000	0.12068	0.703000	0.25646	1.391000	0.46566	-0.242000	0.12053	GTT		0.403	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		T	144765034	A	T	144765034	3	4	129	1	0	0	0	0	1	0	0	0	6851	43	2	5	810	5	GTDC1	2	144765034	Missense_Mutation	SNP	A	TCGA-14-0787-01A-01W-0424-08	36309648	144765034	98434339	8	8799											
ALS2CR11	151254	broad.mit.edu	37	chr2	202401017	202401017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaagttggtatagtcagGcctttctcagaatcattatc	11	15	7	8	0	4	1	4	0	1	1	6	1	4	1	1	2	0	2	1	2	5	6			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202401017G>A	ENST00000286195.3	-	13	1277	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	ALS2CR11_ENST00000439140.1_Silent_p.G411G|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Silent_p.G411G	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	411										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GTATAGTCAGGCCTTTCTCAG	0.338																																						uc002uyf.3																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(1231-1233)ggC>ggT		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.							116	110	112					2																	202401017		2203	4300	6503	SO:0001819	synonymous_variant	151254							g.chr2:202401017G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1233C>T	2.37:g.202401017G>A						ALS2CR11_uc002uye.3_Silent_p.G411G|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Silent_p.G411G	p.G411G	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN			12	1285	-			411					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.1233C>T	CCDS2349.1																																																																																				0.338	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		A	202401017	G	A	202401017	2	1	129	1	0	0	0	0	0	0	0	1	552	1190	42	3		3	ALS2CR11	2	202401017	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08	57635983	202401017	40798356	9	8800											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483675	202483675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttcttaggcagggccGtcgtgccctggttcagggcg	3	12	15	11	3	3	0	1	0	2	0	4	0	3	0	2	4	1	3	2	4	1	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202483675G>A	ENST00000286195.3	-	1	223	c.179C>T	c.(178-180)aCg>aTg	p.T60M	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.T60M|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T60M|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T60M	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	60										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGGCAGGGCCGTCGTGCCCTG	0.642																																						uc002uyf.3																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(178-180)aCg>aTg		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.							54	53	54					2																	202483675		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202483675G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.179C>T	2.37:g.202483675G>A	ENSP00000286195:p.Thr60Met					ALS2CR11_uc002uye.3_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.3_Missense_Mutation_p.T60M|ALS2CR11_uc021vvc.1_Missense_Mutation_p.T60M	p.T60M	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN			0	231	-			60					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.179C>T	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	6.906	0.536719	0.13188	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	3.54	-4.13	0.03904	.	5.904740	0.00424	N	0.000069	T	0.22589	0.0545	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.14805	0.011;0.003;0.003	B;B;B	0.11329	0.006;0.002;0.002	T	0.10428	-1.0630	10	0.33141	T	0.24	.	4.7902	0.13245	0.0977:0.4305:0.35:0.1218	.	60;60;60	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	M	60	ENSP00000286195:T60M;ENSP00000400672:T60M;ENSP00000409937:T60M;ENSP00000399016:T60M	ENSP00000286195:T60M	T	-	2	0	ALS2CR11	202191920	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.739000	0.04866	-0.994000	0.03463	-1.486000	0.00981	ACG		0.642	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		A	202483675	G	A	202483675	3	1	129	1	0	0	0	0	1	0	0	0	552	1145	40	1	5494	1	ALS2CR11	2	202483675	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	82658	202483675	40715698	10	8801											
FAM124B	79843	broad.mit.edu	37	chr2	225266256	225266256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagcctatcctctcccGggctttcgtgcaggaagagc	9	9	11	12	2	1	1	0	0	1	1	4	3	2	2	3	2	3	2	3	2	4	3	rs149161165		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:225266256G>A	ENST00000409685.3	-	1	495	c.230C>T	c.(229-231)cCg>cTg	p.P77L	FAM124B_ENST00000243806.2_Missense_Mutation_p.P77L|FAM124B_ENST00000389874.3_Missense_Mutation_p.P77L	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	77										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATCCTCTCCCGGGCTTTCGTG	0.572																																						uc002vnx.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(229-231)cCg>cTg		Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.							59	57	58					2																	225266256		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266256G>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.230C>T	2.37:g.225266256G>A	ENSP00000386895:p.Pro77Leu					FAM124B_uc002vnw.3_Missense_Mutation_p.P77L	p.P77L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	0	456	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	77					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.230C>T	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.939343	0.00484	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.35973	1.28;1.28;1.28	5.39	1.54	0.23209	.	0.354583	0.30850	N	0.008746	T	0.04907	0.0132	N	0.00058	-2.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39901	-0.9591	10	0.02654	T	1	-4.9059	4.4304	0.11524	0.6821:0.1283:0.0671:0.1225	.	77;77	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	L	77	ENSP00000374524:P77L;ENSP00000386895:P77L;ENSP00000243806:P77L	ENSP00000243806:P77L	P	-	2	0	FAM124B	224974500	0.921000	0.31238	0.000000	0.03702	0.001000	0.01503	1.979000	0.40608	0.078000	0.16900	-0.238000	0.12139	CCG		0.572	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		A	225266256	G	A	225266256	3	1	129	1	0	0	0	0	1	0	0	0	5426	1116	39	2	1236	2	FAM124B	2	225266256	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	22782581	225266256	17933117	11	8802											
ANO7	50636	broad.mit.edu	37	chr2	242142864	242142864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccagcccctggaccaCgtgcgcaggtacttcgggga	9	6	13	13	3	0	0	0	0	0	0	1	2	0	2	4	4	4	3	4	4	3	3	rs565229836	byFrequency	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:242142864C>T	ENST00000274979.8	+	9	1105	c.1002C>T	c.(1000-1002)caC>caT	p.H334H	ANO7_ENST00000402430.3_Silent_p.H333H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	334					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCCTGGACCACGTGCGCAGGT	0.692													C|||	4	0.000798722	8e-04	0	5008	,	,		12846	0		0	False		,,,				2504	0.0031					uc002wax.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1000-1002)caC>caT		Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.							35	28	31					2																	242142864		2189	4298	6487	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142864C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1002C>T	2.37:g.242142864C>T							p.H334H	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			8	1105	+			334					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.1002C>T	CCDS33423.1																																																																																				0.692	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		T	242142864	C	T	242142864	2	4	129	1	0	0	0	0	0	0	0	1	702	535	19	1		1	ANO7	2	242142864	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	16876608	242142864	1056509	12	8803											
FRYL	285527	broad.mit.edu	37	chr4	48569356	48569356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcattttctgcttcCaggagttgtctagttaaatc	7	20	6	8	0	4	0	1	0	3	0	6	1	5	1	1	1	1	3	1	1	3	8			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:48569356C>T	ENST00000503238.1	-	25	3077	c.3078G>A	c.(3076-3078)ctG>ctA	p.L1026L	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.L1026L|FRYL_ENST00000537810.1_Silent_p.L1026L|FRYL_ENST00000358350.4_Silent_p.L1026L			O94915	FRYL_HUMAN	FRY-like	1026					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTCTGCTTCCAGGAGTTGTC	0.343																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3076-3078)ctG>ctA		Homo sapiens FRY-like (FRYL), mRNA.							127	115	119					4																	48569356		1866	4102	5968	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48569356C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3078G>A	4.37:g.48569356C>T						FRYL_uc003gyk.3_Silent_p.L1026L|FRYL_uc003gyi.1_5'Flank	p.L1026L	NM_015030	NP_055845	O94915	FRYL_HUMAN			27	3683	-			1026					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.3078G>A	CCDS43227.1																																																																																				0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			T	48569356	C	T	48569356	2	4	129	1	0	0	0	0	0	0	0	1	6064	581	21	3		3	FRYL	4	48569356	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		48569356	142584920	13	8804											
USO1	8615	broad.mit.edu	37	chr4	76722293	76722293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaagaagaagaggtgaaAaaaacattagaacagcatga	25	4	9	3	0	0	6	0	2	0	4	0	6	0	6	0	1	3	1	0	1	10	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:76722293A>G	ENST00000538159.1	+	18	1953	c.1953A>G	c.(1951-1953)aaA>aaG	p.K651K	USO1_ENST00000514213.2_Silent_p.K627K			O60763	USO1_HUMAN	USO1 vesicle transport factor	642					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAGGTGAAAAAAACATTAG	0.294																																						uc003hiu.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1771-1773)aaA>aaG		Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.							80	72	74					4																	76722293		1829	4074	5903	SO:0001819	synonymous_variant	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76722293A>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1953A>G	4.37:g.76722293A>G						USO1_uc003hiv.3_Silent_p.K484K|USO1_uc003hiw.3_Silent_p.K477K	p.K591K	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	1948	+			642			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37	c.1773A>G		.	.	.	.	.	.	.	.	.	.	A	7.934	0.741271	0.15642	.	.	ENSG00000138768	ENST00000441296	T	0.67345	-0.26	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57452	-0.7809	7	0.19590	T	0.45	.	10.6186	0.45465	0.1484:0.0:0.8516:0.0	.	.	.	.	R	318	ENSP00000411698:K318R	ENSP00000411698:K318R	K	+	2	0	USO1	76941317	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.618000	0.54188	1.353000	0.45828	-0.321000	0.08615	AAA		0.294	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		G	76722293	A	G	76722293	2	3	129	1	0	0	0	0	0	0	0	1	17036	11	1	4		4	USO1	4	76722293	Silent	SNP	A	TCGA-14-0787-01A-01W-0424-08	28152937	76722293	114431983	14	8805											
VCAN	1462	broad.mit.edu	37	chr5	82849273	82849273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgggatgcagctgaacGggaatgccgtctgcagggtg	9	7	16	9	2	1	1	0	1	1	0	1	3	1	3	1	3	5	3	1	3	2	0	rs145625752		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:82849273G>A	ENST00000265077.3	+	11	10149	c.9584G>A	c.(9583-9585)cGg>cAg	p.R3195Q	VCAN_ENST00000502527.2_Missense_Mutation_p.R454Q|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R2208Q|VCAN_ENST00000342785.4_Missense_Mutation_p.R1441Q|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1393Q|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3195	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCAGCTGAACGGGAATGCCGT	0.473																																						uc003kii.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9583-9585)cGg>cAg		Homo sapiens versican (VCAN), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	160	138	145		1361,6623,4322,9584	6.1	1	5	dbSNP_134	145	0,8600		0,0,4300	no	missense,missense,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	454/656,2208/2410,1441/1643,3195/3397	82849273	1,13005	2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849273G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9584G>A	5.37:g.82849273G>A	ENSP00000265077:p.Arg3195Gln					VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q	p.R3195Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	10	9940	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3195			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9584G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	37	6.280649	0.97440	2.27E-4	0.0	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000015	T	0.26774	0.0655	N	0.10664	0.02	0.53005	D	0.999969	D;D;P;D	0.89917	1.0;1.0;0.73;1.0	D;D;B;D	0.83275	0.993;0.977;0.28;0.996	T	0.30534	-0.9975	10	0.59425	D	0.04	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1441;454;2208;3195	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	Q	3195;2208;1441;1393;454	ENSP00000265077:R3195Q;ENSP00000340062:R2208Q;ENSP00000342768:R1441Q;ENSP00000425959:R1393Q;ENSP00000421362:R454Q	ENSP00000265077:R3195Q	R	+	2	0	VCAN	82885029	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	8.009000	0.88606	2.882000	0.98803	0.655000	0.94253	CGG		0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82849273	G	A	82849273	3	1	129	1	0	0	0	0	1	0	0	0	17135	1116	39	2	9622	2	VCAN	5	82849273	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		82849273	98065987	15	8806											
FAT2	2196	broad.mit.edu	37	chr5	150922879	150922879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccaacacctggataacCggagagtctttactgacatt	12	10	9	10	1	1	2	0	1	1	1	1	4	1	3	3	3	3	0	3	3	4	5	rs368590845		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:150922879C>T	ENST00000261800.5	-	9	7821	c.7809G>A	c.(7807-7809)ccG>ccA	p.P2603P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2603	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATAACCGGAGAGTCTT	0.443																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(7807-7809)ccG>ccA		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	205	205	205		7809	-10.7	0	5		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAT2	NM_001447.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		2603/4350	150922879	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922879C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7809G>A	5.37:g.150922879C>T							p.P2603P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	7822	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2603			Cadherin 23.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.7809G>A	CCDS4317.1																																																																																				0.443	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150922879	C	T	150922879	2	4	129	1	0	0	0	0	0	0	0	1	5690	639	23	2		2	FAT2	5	150922879	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	68073606	150922879	29992381	16	8807											
HK3	3101	broad.mit.edu	37	chr5	176314737	176314737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactgtcccctgcaggaCgctgcagaacctacagatac	11	7	8	15	1	1	2	1	0	0	2	2	3	2	3	3	1	5	3	3	1	3	2	rs367991681		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:176314737C>T	ENST00000292432.5	-	11	1406	c.1315G>A	c.(1315-1317)Gtc>Atc	p.V439I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	439	Hexokinase type-2 1.|Regulatory.			V -> I (in Ref. 4; AAC50422). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCAGGACGCTGCAGAAC	0.622																																						uc003mfa.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1315-1317)Gtc>Atc		Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.		C	ILE/VAL	0,4406		0,0,2203	50	42	45		1315	-3.2	0	5		45	3,8591	3.0+/-9.4	0,3,4294	no	missense	HK3	NM_002115.2	29	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	benign	439/924	176314737	3,12997	2203	4297	6500	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314737C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1315G>A	5.37:g.176314737C>T	ENSP00000292432:p.Val439Ile					HK3_uc003mez.3_5'UTR	p.V439I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1407	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	439	V -> I (in Ref. 4; AAC50422).		Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1315G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	0.278	-0.988506	0.02162	0.0	3.49E-4	ENSG00000160883	ENST00000292432	D	0.98075	-4.7	4.43	-3.18	0.05186	Hexokinase, C-terminal (1);	0.687783	0.13203	N	0.405767	D	0.87164	0.6109	N	0.01464	-0.85	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.82246	-0.0552	10	0.17832	T	0.49	.	5.2039	0.15279	0.0:0.2438:0.2681:0.4882	.	439	P52790	HXK3_HUMAN	I	439	ENSP00000292432:V439I	ENSP00000292432:V439I	V	-	1	0	HK3	176247343	0.001000	0.12720	0.023000	0.16930	0.002000	0.02628	-0.416000	0.07097	-0.955000	0.03636	-0.415000	0.06103	GTC		0.622	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176314737	C	T	176314737	3	4	129	1	0	0	0	0	1	0	0	0	7192	536	19	1	1492	1	HK3	5	176314737	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	25391858	176314737	4600523	17	8808											
CARD11	84433	broad.mit.edu	37	chr7	2963984	2963984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagggtccgaaggagtagCgttcgtgactgtcatctgca	9	9	15	8	3	2	1	1	1	1	0	4	4	3	3	1	3	2	3	1	3	2	2	rs587778150		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:2963984C>T	ENST00000396946.4	-	15	2226	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	608					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAAGGAGTAGCGTTCGTGACT	0.642			Mis		DLBCL																																	uc003smv.3				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1822-1824)cGc>cAc		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.							94	78	83					7																	2963984		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963984C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1823G>A	7.37:g.2963984C>T	ENSP00000380150:p.Arg608His						p.R608H	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	14	2157	-		Ovarian(82;0.0115)	608					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1823G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891212	0.17613	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.33654	1.4;2.34	5.15	3.35	0.38373	.	0.374846	0.25009	N	0.033857	T	0.28267	0.0698	N	0.08118	0	0.18873	N	0.999985	D	0.69078	0.997	P	0.55667	0.781	T	0.10870	-1.0611	10	0.27785	T	0.31	-19.9497	9.7146	0.40268	0.0:0.84:0.0:0.16	.	608	Q9BXL7	CAR11_HUMAN	H	608;79	ENSP00000380150:R608H;ENSP00000347695:R79H	ENSP00000347695:R79H	R	-	2	0	CARD11	2930510	0.498000	0.26075	0.028000	0.17463	0.523000	0.34469	0.699000	0.25586	0.583000	0.29574	0.555000	0.69702	CGC		0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		T	2963984	C	T	2963984	3	4	129	1	0	0	0	0	1	0	0	0	2645	768	27	1	1685	1	CARD11	7	2963984	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		2963984	156174679	18	8809											
PON3	5446	broad.mit.edu	37	chr7	95019499	95019499	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagcccactaggaagtatAtcaatatcttcagagccact	13	9	7	12	0	3	1	2	0	1	1	3	2	3	2	3	1	2	1	3	1	6	5			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:95019499A>G	ENST00000265627.5	-	3	178	c.168T>C	c.(166-168)gaT>gaC	p.D56D	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Silent_p.D56D|PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Silent_p.D56D	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	56					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TAGGAAGTATATCAATATCTT	0.378																																						uc003unt.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(166-168)gaT>gaC		Homo sapiens paraoxonase 3 (PON3), mRNA.	Atorvastatin(DB01076)|Cefazolin(DB01327)						203	214	210					7																	95019499		2203	4300	6503	SO:0001819	synonymous_variant	5446				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:95019499A>G	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.168T>C	7.37:g.95019499A>G						PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.D56D	p.D56D	NM_000940	NP_000931	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	193	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		56					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.168T>C	CCDS5639.1																																																																																				0.378	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		G	95019499	A	G	95019499	2	3	129	1	0	0	0	0	0	0	0	1	12250	446	16	4		4	PON3	7	95019499	Silent	SNP	A	TCGA-14-0787-01A-01W-0424-08	92055515	95019499	64119164	19	8810											
PLXNA4	91584	broad.mit.edu	37	chr7	131872361	131872361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcagatctgagagagtCagtgtctgtgtagaaaggat	11	11	14	5	0	4	4	2	1	2	3	4	6	4	5	0	2	0	2	0	2	2	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:131872361C>T	ENST00000359827.3	-	15	3824	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L	PLXNA4_ENST00000321063.4_Silent_p.L954L			Q9HCM2	PLXA4_HUMAN	plexin A4	954	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGAGAGTCAGTGTCTGTG	0.617																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2860-2862)ctG>ctA		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							128	138	135					7																	131872361		2062	4199	6261	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872361C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2862G>A	7.37:g.131872361C>T							p.L954L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			14	3091	-			954			IPT/TIG 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.2862G>A	CCDS43646.1																																																																																				0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131872361	C	T	131872361	2	4	129	1	0	0	0	0	0	0	0	1	12122	813	29	3		3	PLXNA4	7	131872361	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	36852862	131872361	27266302	20	8811											
SSPO	23145	broad.mit.edu	37	chr7	149493732	149493732	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggactccgctgtgccaGtggtgagtgtgtcctgagag	5	11	17	8	1	0	2	0	2	0	1	2	4	2	3	3	3	1	2	3	3	0	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:149493732G>T	ENST00000378016.2	+	0	6728							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGTGCCAGTGGTGAGTGT	0.652																																						uc010lpk.3																			0											c.(6718-6720)aGt>aTt		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							97	100	99					7																	149493732		2120	4224	6344			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493732G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493732G>T							p.S2240I	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		44	6719	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2243			LDL-receptor class A 8.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6719G>T																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149493732	G	T	149493732	1	4	129	0	1	0	0	0	0	0	0	0	15188	1029	36	5		5	SSPO	7	149493732	RNA	SNP	G	TCGA-14-0787-01A-01W-0424-08	17621371	149493732	9644931	21	8812											
WDR67	93594	broad.mit.edu	37	chr8	124109565	124109565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcaagtcaaatcatcttCatttgtggtgcttggaagct	10	13	11	7	0	4	0	3	0	1	0	4	2	4	1	0	3	2	3	0	3	3	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr8:124109565C>T	ENST00000287380.1	+	6	805	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	TBC1D31_ENST00000378080.2_Missense_Mutation_p.H134Y|TBC1D31_ENST00000522420.1_Missense_Mutation_p.H134Y|TBC1D31_ENST00000521676.1_Missense_Mutation_p.H134Y|TBC1D31_ENST00000327098.5_Missense_Mutation_p.H239Y|TBC1D31_ENST00000309336.3_Missense_Mutation_p.H239Y	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	239						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AAATCATCTTCATTTGTGGTG	0.423																																						uc003ypp.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(715-717)Cat>Tat		Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.							134	121	126					8																	124109565		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124109565C>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.715C>T	8.37:g.124109565C>T	ENSP00000287380:p.His239Tyr					WDR67_uc011lig.2_Missense_Mutation_p.H239Y|WDR67_uc011lih.2_Missense_Mutation_p.H129Y|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.3_Non-coding_Transcript	p.H239Y	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	805	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		239					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.715C>T	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653258	0.67472	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000543408;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000522276	T;T;T;T;T;T;T	0.69685	-0.09;1.66;1.66;1.65;1.65;1.65;-0.42	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.78637	2.42	0.80722	D	1	B;B;B	0.21452	0.002;0.006;0.056	B;B;B	0.20184	0.002;0.016;0.028	T	0.65664	-0.6113	10	0.31617	T	0.26	-24.9716	19.8949	0.96954	0.0:1.0:0.0:0.0	.	239;239;239	B7ZL19;Q96DN5;Q3KRB0	.;WDR67_HUMAN;.	Y	239;239;118;239;134;134;134;229	ENSP00000287380:H239Y;ENSP00000308358:H239Y;ENSP00000312701:H239Y;ENSP00000429334:H134Y;ENSP00000430628:H134Y;ENSP00000367320:H134Y;ENSP00000428891:H229Y	ENSP00000287380:H239Y	H	+	1	0	WDR67	124178746	1.000000	0.71417	0.987000	0.45799	0.954000	0.61252	5.534000	0.67167	2.712000	0.92718	0.484000	0.47621	CAT		0.423	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		T	124109565	C	T	124109565	3	4	129	1	0	0	0	0	1	0	0	0	17315	826	29	3	737	3	WDR67	8	124109565	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		124109565	22254457	22	8813											
INPP5E	56623	broad.mit.edu	37	chr9	139327520	139327520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtggtcaccgtggagcaCtccacctctgtgggaggggc	5	8	16	12	2	2	0	1	0	1	0	3	2	3	2	3	5	1	1	3	5	0	0			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr9:139327520C>G	ENST00000371712.3	-	5	1569	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CCGTGGAGCACTCCACCTCTG	0.627																																						uc004cho.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1165-1167)gaG>gaC		Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.							141	133	136					9																	139327520		2202	4300	6502	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139327520C>G	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1167G>C	9.37:g.139327520C>G	ENSP00000360777:p.Glu389Asp					INPP5E_uc010nbm.3_Missense_Mutation_p.E389D	p.E389D	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	4	1552	-		Myeloproliferative disorder(178;0.0511)	389					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1167G>C	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494299	0.44352	.	.	ENSG00000148384	ENST00000371712	T	0.79749	-1.3	4.82	3.65	0.41850	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.65677	2.01	0.58432	D	0.999999	B;B	0.30584	0.286;0.044	B;B	0.29598	0.104;0.047	T	0.75587	-0.3266	10	0.56958	D	0.05	-38.1068	6.7077	0.23260	0.0:0.714:0.0:0.286	.	355;389	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	D	389	ENSP00000360777:E389D	ENSP00000360777:E389D	E	-	3	2	INPP5E	138447341	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	1.267000	0.33050	2.387000	0.81309	0.561000	0.74099	GAG		0.627	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		G	139327520	C	G	139327520	3	3	129	1	0	0	0	0	1	0	0	0	7757	564	20	5	791	5	INPP5E	9	139327520	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		139327520	1885911	23	8814											
KCNK18	338567	broad.mit.edu	37	chr10	118957199	118957199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttggaggagctctgcaGaatcttgaactgcagtgaaa	11	11	12	7	0	3	3	0	2	3	1	3	5	3	5	0	2	4	4	0	2	3	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:118957199G>T	ENST00000334549.1	+	1	200	c.200G>T	c.(199-201)aGa>aTa	p.R67I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	67					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GAGCTCTGCAGAATCTTGAAC	0.582																																						uc010qsr.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(199-201)aGa>aTa		Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.							90	81	84					10																	118957199		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957199G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.200G>T	10.37:g.118957199G>T	ENSP00000334650:p.Arg67Ile						p.R67I	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	0	200	+		Colorectal(252;0.19)	67					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.200G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	7.423	0.637174	0.14386	.	.	ENSG00000186795	ENST00000334549	T	0.15603	2.41	4.17	-1.47	0.08772	.	1.224480	0.05198	N	0.504443	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34502	-0.9826	10	0.35671	T	0.21	.	4.4845	0.11783	0.5221:0.0:0.3178:0.1601	.	67	Q7Z418	KCNKI_HUMAN	I	67	ENSP00000334650:R67I	ENSP00000334650:R67I	R	+	2	0	KCNK18	118947189	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.068000	0.11561	-0.256000	0.09473	0.561000	0.74099	AGA		0.582	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		T	118957199	G	T	118957199	3	4	129	1	0	0	0	0	1	0	0	0	8065	942	33	5	202	5	KCNK18	10	118957199	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		118957199	16577548	24	8815											
TIAL1	7073	broad.mit.edu	37	chr10	121341480	121341480	+	Frame_Shift_Del	DEL	T	T	-																															tgatttgatatcttctgttgTaatttctggactcaaatccc																										TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:121341480delT	ENST00000436547.2	-	5	369	c.325delA	c.(325-327)acafs	p.T110fs	TIAL1_ENST00000369093.2_Frame_Shift_Del_p.T127fs|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCTTCTGTTGTAATTTCTGGA	0.348																																						uc001lei.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(325-327)acafs		Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.							91	91	91					10																	121341480		2203	4300	6503	SO:0001589	frameshift_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121341480delT	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.325delA	10.37:g.121341480delT	ENSP00000394902:p.Thr110fs					TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc010qtb.1_5'UTR	p.T109fs	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	4	889	-		Lung NSC(174;0.094)|all_lung(145;0.123)	109			RRM 2.		A8K3T0|A8K4L9	Frame_Shift_Del	DEL	ENST00000436547.2	37	c.325delA	CCDS7613.1																																																																																				0.348	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		-	121341480	T	-	121341480	7	5	129	1	0	1	0	1	0	0	0	0	15886	1638	57	0	834	0	TIAL1	10	121341480	Frame_Shift_Del	DEL	T	TCGA-14-0787-01A-01W-0424-08	2384281	121341480	14193267	25	8816											
DCHS1	8642	broad.mit.edu	37	chr11	6647232	6647232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacgtggaacaatccaCgtgccggctgggatgcagcc	8	7	14	12	3	1	0	0	0	1	0	2	2	2	2	3	4	5	2	3	4	3	1	rs149822394		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:6647232C>T	ENST00000299441.3	-	17	7061	c.6650G>A	c.(6649-6651)cGt>cAt	p.R2217H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2217	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACAATCCACGTGCCGGCTG	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		20380	0		0	False		,,,				2504	0					uc001mem.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(6649-6651)cGt>cAt		Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	153	137	142		6650	4	1	11	dbSNP_134	142	1,8591	1.2+/-3.3	0,1,4295	no	missense	DCHS1	NM_003737.2	29	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	benign	2217/3299	6647232	2,12992	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6647232C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6650G>A	11.37:g.6647232C>T	ENSP00000299441:p.Arg2217His						p.R2217H	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	16	7051	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2217			Cadherin 21.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.6650G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479059	0.26511	2.27E-4	1.16E-4	ENSG00000166341	ENST00000299441	T	0.52526	0.66	4.9	3.99	0.46301	Cadherin (4);Cadherin-like (1);	0.000000	0.42053	D	0.000771	T	0.32763	0.0840	L	0.37697	1.125	0.27883	N	0.939593	B	0.06786	0.001	B	0.04013	0.001	T	0.14643	-1.0465	10	0.33940	T	0.23	.	5.512	0.16886	0.0:0.6443:0.1779:0.1777	.	2217	Q96JQ0	PCD16_HUMAN	H	2217	ENSP00000299441:R2217H	ENSP00000299441:R2217H	R	-	2	0	DCHS1	6603808	0.994000	0.37717	0.990000	0.47175	0.944000	0.59088	2.976000	0.49289	1.298000	0.44778	-0.244000	0.11960	CGT		0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6647232	C	T	6647232	3	4	129	1	0	0	0	0	1	0	0	0	4287	536	19	1	3266	1	DCHS1	11	6647232	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		6647232	128359284	26	8817											
OR8J3	81168	broad.mit.edu	37	chr11	55904448	55904448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattgtcccatagaaaacCgtgactgctatcatatgcga	13	10	8	10	2	1	2	1	1	0	1	2	3	2	2	2	0	4	2	2	0	5	4	rs529152876		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:55904448C>T	ENST00000301529.1	-	1	746	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T249T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATAGAAAACCGTGACTGCTA	0.398													C|||	1	0.000199681	8e-04	0	5008	,	,		19498	0		0	False		,,,				2504	0					uc010riz.2																			2	Substitution - coding silent(2)	p.T249T(4)|p.T249K(1)	lung(1)|endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(745-747)acG>acA		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.							131	124	126					11																	55904448		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904448C>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.747G>A	11.37:g.55904448C>T							p.T249T	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	747	-	Esophageal squamous(21;0.00693)		249					Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.747G>A	CCDS31520.1																																																																																				0.398	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		T	55904448	C	T	55904448	2	4	129	1	0	0	0	0	0	0	0	1	11242	639	23	2		2	OR8J3	11	55904448	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	49257216	55904448	79102068	27	8818											
GIF	2694	broad.mit.edu	37	chr11	59610023	59610023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgccaagatcgctagactgGgcccatagaaggctgatgct	10	8	13	10	1	0	4	0	1	0	3	1	4	0	4	2	2	2	3	2	2	4	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:59610023G>T	ENST00000257248.2	-	4	451	c.404C>A	c.(403-405)cCc>cAc	p.P135H	GIF_ENST00000541311.1_Missense_Mutation_p.P110H	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	135					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CGCTAGACTGGGCCCATAGAA	0.562																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.3																			0		p.G134E(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(403-405)cCc>cAc		Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.							84	72	76					11																	59610023		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59610023G>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.404C>A	11.37:g.59610023G>T	ENSP00000257248:p.Pro135His					GIF_uc010rkz.1_3'UTR	p.P135H	NM_005142	NP_005133	P27352	IF_HUMAN			3	452	-			135					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.404C>A	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650686	0.87958	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35973	1.28;1.28	5.63	5.63	0.86233	.	0.169209	0.42420	D	0.000703	T	0.59238	0.2179	M	0.72479	2.2	0.45607	D	0.998541	D	0.89917	1.0	D	0.75484	0.986	T	0.57124	-0.7865	10	0.48119	T	0.1	-29.8799	15.5476	0.76118	0.0:0.0:1.0:0.0	.	135	P27352	IF_HUMAN	H	135;110	ENSP00000257248:P135H;ENSP00000440427:P110H	ENSP00000257248:P135H	P	-	2	0	GIF	59366599	0.995000	0.38212	0.999000	0.59377	0.995000	0.86356	4.371000	0.59523	2.826000	0.97356	0.655000	0.94253	CCC		0.562	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		T	59610023	G	T	59610023	3	4	129	1	0	0	0	0	1	0	0	0	6376	1232	43	5	873	5	GIF	11	59610023	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	3705575	59610023	75396493	28	8819											
SCNN1A	6337	broad.mit.edu	37	chr12	6464465	6464465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatggaggtctccacGccaggccgcaagttaaagcc	10	7	12	12	2	1	1	0	1	1	0	2	2	1	2	4	3	2	3	4	3	3	1	rs567003433		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:6464465G>A	ENST00000228916.2	-	6	1214	c.1116C>T	c.(1114-1116)ggC>ggT	p.G372G	SCNN1A_ENST00000358945.3_Silent_p.G372G|SCNN1A_ENST00000543768.1_Silent_p.G395G|SCNN1A_ENST00000540037.1_Silent_p.G72G|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.G431G|SCNN1A_ENST00000396966.2_Silent_p.G372G	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	372					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGTCTCCACGCCAGGCCGCA	0.612													G|||	1	0.000199681	0	0	5008	,	,		17953	0		0	False		,,,				2504	0.001					uc001qnw.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1291-1293)ggC>ggT		Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						57	47	50					12																	6464465		2203	4300	6503	SO:0001819	synonymous_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6464465G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1116C>T	12.37:g.6464465G>A						SCNN1A_uc001qnv.3_Silent_p.G72G|SCNN1A_uc001qnx.3_Silent_p.G372G|SCNN1A_uc010sfb.2_Silent_p.G395G	p.G431G	NM_001159576	NP_001029	P37088	SCNNA_HUMAN			4	1557	-			372					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.1293C>T	CCDS8543.1																																																																																				0.612	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			A	6464465	G	A	6464465	2	1	129	1	0	0	0	0	0	0	0	1	13927	1074	38	1		1	SCNN1A	12	6464465	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08		6464465	127387430	29	8820											
MYO1A	4640	broad.mit.edu	37	chr12	57424856	57424856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagagctgctgcagctcctGatttgctgtgctgaggcact	7	11	13	10	0	0	3	0	2	0	1	1	4	1	3	1	1	6	7	1	1	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:57424856G>C	ENST00000442789.2	-	24	2739	c.2452C>G	c.(2452-2454)Cag>Gag	p.Q818E	TAC3_ENST00000415231.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.Q818E|MYO1A_ENST00000544473.1_Missense_Mutation_p.Q656E	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	818					microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCAGCTCCTGATTTGCTGTG	0.517																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2452-2454)Cag>Gag		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							86	82	83					12																	57424856		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57424856G>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2452C>G	12.37:g.57424856G>C	ENSP00000393392:p.Gln818Glu					MYO1A_uc010sqz.2_Missense_Mutation_p.Q656E|MYO1A_uc009zpd.3_Missense_Mutation_p.Q818E	p.Q818E	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			22	2692	-			818					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2452C>G	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.465692	0.00169	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.86164	-2.03;-2.03;-2.08	4.66	3.76	0.43208	.	0.663219	0.14107	N	0.341014	T	0.79673	0.4486	L	0.43152	1.355	0.30893	N	0.730178	B	0.20368	0.044	B	0.21708	0.036	T	0.65899	-0.6056	10	0.02654	T	1	.	10.7512	0.46211	0.0:0.1935:0.8065:0.0	.	818	Q9UBC5	MYO1A_HUMAN	E	818;818;656	ENSP00000300119:Q818E;ENSP00000393392:Q818E;ENSP00000440514:Q656E	ENSP00000300119:Q818E	Q	-	1	0	MYO1A	55711123	0.984000	0.35163	0.259000	0.24435	0.036000	0.12997	1.190000	0.32126	0.925000	0.37094	-0.300000	0.09419	CAG		0.517	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		C	57424856	G	C	57424856	3	2	129	1	0	0	0	0	1	0	0	0	10068	1299	45	5	703	5	MYO1A	12	57424856	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	50960391	57424856	76427039	30	8821											
NAV3	89795	broad.mit.edu	37	chr12	78574731	78574731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcctactcggccaccGtcagaatcctcaagcagcac	11	6	8	16	2	2	1	2	0	0	1	4	1	3	1	4	1	4	3	4	1	4	2	rs200326115		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:78574731G>A	ENST00000397909.2	+	30	5771	c.5598G>A	c.(5596-5598)ccG>ccA	p.P1866P	NAV3_ENST00000536525.2_Silent_p.P1844P|NAV3_ENST00000228327.6_Silent_p.P1844P|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Silent_p.P1667P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1866						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCGGCCACCGTCAGAATCCT	0.433										HNSCC(70;0.22)			G|||	1	0.000199681	0	0	5008	,	,		17682	0.001		0	False		,,,				2504	0					uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5596-5598)ccG>ccA		Homo sapiens neuron navigator 3 (NAV3), mRNA.							108	110	110					12																	78574731		1997	4165	6162	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78574731G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5598G>A	12.37:g.78574731G>A		HNSCC(70;0.22)				NAV3_uc001syo.3_Silent_p.P1844P|NAV3_uc010sub.2_Silent_p.P1323P|NAV3_uc009zsf.3_Silent_p.P675P	p.P1866P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			29	5771	+			1866					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.5598G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.681	0.689077	0.14973	.	.	ENSG00000067798	ENST00000552895	.	.	.	6.02	-12.0	0.00017	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56727	-0.7931	4	.	.	.	-15.4389	1.3687	0.02206	0.3478:0.2466:0.1052:0.3004	.	.	.	.	I	739	.	.	V	+	1	0	NAV3	77098862	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-7.524000	0.00034	-5.000000	0.00024	-0.851000	0.03033	GTC		0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78574731	G	A	78574731	2	1	129	1	0	0	0	0	0	0	0	1	10185	1132	40	1		1	NAV3	12	78574731	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08	21149875	78574731	55277164	31	8822											
OR4N2	390429	broad.mit.edu	37	chr14	20296487	20296487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacccttcgcaaccaggaaGtgaaagcttccatgaaaaag	16	7	8	10	1	0	2	0	2	0	0	2	3	1	3	3	1	3	2	3	1	6	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:20296487G>A	ENST00000315947.1	+	1	880	c.880G>A	c.(880-882)Gtg>Atg	p.V294M	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAACCAGGAAGTGAAAGCTTC	0.383																																						uc010tkv.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(880-882)Gtg>Atg		Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.							41	44	43					14																	20296487		2203	4294	6497	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296487G>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.880G>A	14.37:g.20296487G>A	ENSP00000319601:p.Val294Met						p.V294M	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	880	+	all_cancers(95;0.00108)		294					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.880G>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.846683	0.00568	.	.	ENSG00000176294	ENST00000315947	T	0.39229	1.09	4.57	2.72	0.32119	.	0.183411	0.26867	N	0.022087	T	0.21267	0.0512	L	0.33093	0.98	0.24455	N	0.994465	P	0.34639	0.461	B	0.32393	0.145	T	0.17471	-1.0368	10	0.05620	T	0.96	-5.433	4.2847	0.10850	0.2054:0.1914:0.6031:0.0	.	294	Q8NGD1	OR4N2_HUMAN	M	294	ENSP00000319601:V294M	ENSP00000319601:V294M	V	+	1	0	OR4N2	19366327	0.072000	0.21174	0.999000	0.59377	0.088000	0.18126	-0.451000	0.06795	1.273000	0.44346	0.591000	0.81541	GTG		0.383	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296487	G	A	20296487	3	1	129	1	0	0	0	0	1	0	0	0	11077	1029	36	3	882	3	OR4N2	14	20296487	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		20296487	87053053	32	8823											
CLEC14A	161198	broad.mit.edu	37	chr14	38723845	38723845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgactttcaccccattGtttgtgcaatgtgcagaact	8	13	7	13	1	1	1	1	0	0	1	2	2	2	1	4	0	3	3	4	0	2	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:38723845G>T	ENST00000342213.2	-	1	1729	c.1383C>A	c.(1381-1383)aaC>aaA	p.N461K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	461						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCACCCCATTGTTTGTGCAAT	0.607																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1381-1383)aaC>aaA		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							72	74	73					14																	38723845		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38723845G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1383C>A	14.37:g.38723845G>T	ENSP00000353013:p.Asn461Lys						p.N461K	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1730	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		461					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1383C>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020619	0.35606	.	.	ENSG00000176435	ENST00000342213	T	0.74002	-0.8	4.72	2.85	0.33270	.	0.570579	0.14668	N	0.305541	T	0.55289	0.1911	N	0.14661	0.345	0.09310	N	1	B	0.21606	0.058	B	0.19946	0.027	T	0.50189	-0.8857	10	0.72032	D	0.01	-5.6055	6.4924	0.22123	0.0956:0.0:0.7254:0.179	.	461	Q86T13	CLC14_HUMAN	K	461	ENSP00000353013:N461K	ENSP00000353013:N461K	N	-	3	2	CLEC14A	37793596	0.001000	0.12720	0.039000	0.18376	0.129000	0.20672	0.396000	0.20867	0.656000	0.30886	-0.214000	0.12660	AAC		0.607	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		T	38723845	G	T	38723845	3	4	129	1	0	0	0	0	1	0	0	0	3499	1368	48	5	93	5	CLEC14A	14	38723845	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	18427358	38723845	68625695	33	8824											
PYGL	5836	broad.mit.edu	37	chr14	51387718	51387718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgagcagaccagaggCgcatggtgttgacagtgtta	9	8	15	9	2	0	3	0	1	0	2	0	4	0	3	2	2	2	4	2	2	1	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:51387718C>T	ENST00000216392.7	-	6	1060	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PYGL_ENST00000532462.1_Missense_Mutation_p.R243H|PYGL_ENST00000544180.2_Missense_Mutation_p.R209H	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AGACCAGAGGCGCATGGTGTT	0.502																																						uc001wyu.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(727-729)cGc>cAc		Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						106	104	104					14																	51387718		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51387718C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.728G>A	14.37:g.51387718C>T	ENSP00000216392:p.Arg243His					PYGL_uc010tqq.2_Missense_Mutation_p.R209H|PYGL_uc010anz.1_Missense_Mutation_p.R46H	p.R243H	NM_002863	NP_002854	P06737	PYGL_HUMAN			5	855	-	all_epithelial(31;0.00825)|Breast(41;0.148)		243					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.728G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	36	5.745950	0.96882	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.96168	-3.93;-3.93;-3.93	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.97988	1.0353	10	0.87932	D	0	-0.3184	19.3504	0.94381	0.0:1.0:0.0:0.0	.	209;243;243	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	H	243;209;243	ENSP00000431657:R243H;ENSP00000443787:R209H;ENSP00000216392:R243H	ENSP00000216392:R243H	R	-	2	0	PYGL	50457468	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.750000	0.85110	2.885000	0.99019	0.655000	0.94253	CGC		0.502	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		T	51387718	C	T	51387718	3	4	129	1	0	0	0	0	1	0	0	0	12861	768	27	1	1875	1	PYGL	14	51387718	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	12663873	51387718	55961822	34	8825											
SMOC1	64093	broad.mit.edu	37	chr14	70442486	70442486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtcaccccggatgggaagCccatcagtggctcttctgtg	6	10	13	12	1	4	0	2	0	2	0	4	2	4	2	3	3	1	1	3	3	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:70442486C>A	ENST00000381280.4	+	4	686	c.433C>A	c.(433-435)Ccc>Acc	p.P145T	SMOC1_ENST00000361956.3_Missense_Mutation_p.P145T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	145	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGATGGGAAGCCCATCAGTGG	0.517																																						uc001xlt.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(433-435)Ccc>Acc		Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.							121	111	115					14																	70442486		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70442486C>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.433C>A	14.37:g.70442486C>A	ENSP00000370680:p.Pro145Thr					SMOC1_uc001xls.2_Missense_Mutation_p.P145T	p.P145T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	3	715	+			145			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.433C>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740244	0.89573	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.63913	-0.07;-0.07	5.07	5.07	0.68467	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.79052	-0.1961	10	0.41790	T	0.15	-14.5539	17.3768	0.87394	0.0:1.0:0.0:0.0	.	145;145	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	145	ENSP00000355110:P145T;ENSP00000370680:P145T	ENSP00000355110:P145T	P	+	1	0	SMOC1	69512239	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.404000	0.79996	2.637000	0.89404	0.462000	0.41574	CCC		0.517	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			A	70442486	C	A	70442486	3	1	129	1	0	0	0	0	1	0	0	0	14801	739	26	5	447	5	SMOC1	14	70442486	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	19054768	70442486	36907054	35	8826											
C15orf2	23742	broad.mit.edu	37	chr15	24921536	24921536	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgaaggggaggatgaCgagaaaaggaccccccttag	14	4	14	9	2	0	3	0	1	0	2	1	8	0	6	3	4	0	0	3	4	4	1	rs368120585		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr15:24921536C>T	ENST00000329468.2	+	1	996	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D174D(2)									GGGAGGATGACGAGAAAAGGA	0.622																																						uc001ywo.3																			2	Substitution - coding silent(2)	p.D174D(4)	ovary(1)|large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(520-522)gaC>gaT		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.		C		1,4405		0,1,2202	48	41	43		522	-5.4	0	15		43	0,8600		0,0,4300	no	coding-synonymous	C15orf2	NM_018958.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		174/1157	24921536	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921536C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.522C>T	15.37:g.24921536C>T							p.D174D	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	996	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	174						Silent	SNP	ENST00000329468.2	37	c.522C>T	CCDS10015.1																																																																																				0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921536	C	T	24921536	2	4	129	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921536	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		24921536	77609856	36	8827											
SEC14L5	9717	broad.mit.edu	37	chr16	5046964	5046964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggcgcaagcagcaccagGtggatctcctccttcagacc	8	7	11	15	1	2	1	1	0	1	1	4	2	3	2	4	3	2	4	4	3	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:5046964G>A	ENST00000251170.7	+	8	1069	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	297						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCAGCACCAGGTGGATCTCCT	0.612																																						uc002cye.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(889-891)Gtg>Atg		Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.							41	40	40					16																	5046964		1938	4121	6059	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5046964G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.889G>A	16.37:g.5046964G>A	ENSP00000251170:p.Val297Met						p.V297M	NM_014692	NP_055507	O43304	S14L5_HUMAN			7	1069	+			297						Missense_Mutation	SNP	ENST00000251170.7	37	c.889G>A	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030402	0.93575	.	.	ENSG00000103184	ENST00000251170	T	0.74315	-0.83	4.66	4.66	0.58398	Cellular retinaldehyde-binding/triple function, C-terminal (1);Phosphatidylinositol transfer protein-like, N-terminal (1);	0.101860	0.41712	D	0.000837	D	0.87398	0.6167	M	0.92649	3.33	0.80722	D	1	D	0.56968	0.978	P	0.56612	0.802	D	0.90626	0.4563	10	0.66056	D	0.02	-0.1596	18.0897	0.89471	0.0:0.0:1.0:0.0	.	297	O43304	S14L5_HUMAN	M	297	ENSP00000251170:V297M	ENSP00000251170:V297M	V	+	1	0	SEC14L5	4986965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.099000	0.94207	2.573000	0.86826	0.491000	0.48974	GTG		0.612	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			A	5046964	G	A	5046964	3	1	129	1	0	0	0	0	1	0	0	0	13985	1261	44	3	915	3	SEC14L5	16	5046964	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		5046964	85307789	37	8828											
ZFP90	146198	broad.mit.edu	37	chr16	68596966	68596966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactggaagaccaggcctgaAgtcaaatcatcacatttgca	14	8	9	10	0	3	2	3	1	0	1	3	4	3	3	2	2	1	1	2	2	3	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:68596966A>T	ENST00000570495.1	+	5	568	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZFP90_ENST00000564323.1_3'UTR|ZFP90_ENST00000563169.2_Missense_Mutation_p.E92D|ZFP90_ENST00000398253.2_Missense_Mutation_p.E92D			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	92					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCAGGCCTGAAGTCAAATCAT	0.423																																						uc010cff.3																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(274-276)gaA>gaT		Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.							79	73	75					16																	68596966		1898	4127	6025	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68596966A>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.276A>T	16.37:g.68596966A>T	ENSP00000460547:p.Glu92Asp					ZFP90_uc002ewb.3_5'UTR|ZFP90_uc002ewc.3_5'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E92D|ZFP90_uc002ewe.3_Missense_Mutation_p.E92D	p.E92D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	4	568	+		Ovarian(137;0.192)	92					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.276A>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	A	3.954	-0.011736	0.07727	.	.	ENSG00000184939	ENST00000398253	T	0.06218	3.33	5.85	-4.18	0.03846	.	.	.	.	.	T	0.03651	0.0104	N	0.25485	0.75	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41980	-0.9478	9	0.37606	T	0.19	-2.8453	2.7769	0.05350	0.3342:0.2113:0.3511:0.1034	.	92	Q8TF47	ZFP90_HUMAN	D	92	ENSP00000381304:E92D	ENSP00000381304:E92D	E	+	3	2	ZFP90	67154467	0.001000	0.12720	0.009000	0.14445	0.150000	0.21749	0.167000	0.16602	-1.111000	0.02988	-1.139000	0.01908	GAA		0.423	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		T	68596966	A	T	68596966	3	4	129	1	0	0	0	0	1	0	0	0	17651	69	3	5	290	5	ZFP90	16	68596966	Missense_Mutation	SNP	A	TCGA-14-0787-01A-01W-0424-08	63550002	68596966	21757787	38	8829											
GPR179	440435	broad.mit.edu	37	chr17	36486234	36486234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggggccttgaggctgTgggatttagggaagatcttg	9	10	17	5	0	1	2	0	1	1	1	1	5	1	4	1	5	1	1	1	5	3	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr17:36486234T>C	ENST00000342292.4	-	11	3238	c.3218A>G	c.(3217-3219)cAc>cGc	p.H1073R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1073					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGAGGCTGTGGGATTTAGG	0.567																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3217-3219)cAc>cGc		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							69	74	72					17																	36486234		2060	4204	6264	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486234T>C		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3218A>G	17.37:g.36486234T>C	ENSP00000345060:p.His1073Arg						p.H1073R	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			10	3239	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1073						Missense_Mutation	SNP	ENST00000342292.4	37	c.3218A>G	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335639	0.41398	.	.	ENSG00000188888	ENST00000342292	T	0.54675	0.56	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000019	T	0.51924	0.1703	L	0.32530	0.975	0.26131	N	0.980419	D	0.56035	0.974	P	0.51453	0.67	T	0.51458	-0.8703	10	0.59425	D	0.04	-17.4998	13.0156	0.58754	0.0:0.0:0.0:1.0	.	1073	Q6PRD1	GP179_HUMAN	R	1073	ENSP00000345060:H1073R	ENSP00000345060:H1073R	H	-	2	0	GPR179	33739760	0.968000	0.33430	0.998000	0.56505	0.517000	0.34286	1.323000	0.33701	2.263000	0.75096	0.379000	0.24179	CAC		0.567	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			C	36486234	T	C	36486234	3	2	129	1	0	0	0	0	1	0	0	0	6674	1696	59	4	3889	4	GPR179	17	36486234	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08		36486234	44708976	39	8830											
CDH7	1005	broad.mit.edu	37	chr18	63476948	63476948	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcaccagcttcactcTgatgttgataaaggagatgg	11	14	9	7	0	3	3	2	2	1	1	3	4	3	3	1	2	1	2	1	2	2	5			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr18:63476948T>C	ENST00000397968.2	+	3	645	c.219T>C	c.(217-219)tcT>tcC	p.S73S	CDH7_ENST00000323011.3_Silent_p.S73S|CDH7_ENST00000536984.2_Silent_p.S73S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTCACTCTGATGTTGATA	0.378																																						uc002lkb.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(217-219)tcT>tcC		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.							78	77	77					18																	63476948		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63476948T>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.219T>C	18.37:g.63476948T>C						CDH7_uc002ljz.3_Silent_p.S73S|CDH7_uc002lka.3_Silent_p.S73S	p.S73S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN			2	645	+		Esophageal squamous(42;0.129)	73			Cadherin 1.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.219T>C	CCDS11993.1																																																																																				0.378	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		C	63476948	T	C	63476948	2	2	129	1	0	0	0	0	0	0	0	1	3115	1567	55	4		4	CDH7	18	63476948	Silent	SNP	T	TCGA-14-0787-01A-01W-0424-08		63476948	14600300	40	8831											
NFIC	4782	broad.mit.edu	37	chr19	3449019	3449019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctccacaggcatctcGtccccggtgaagaagacaga	11	6	9	15	2	1	4	0	1	1	3	5	4	4	4	5	2	0	1	5	2	2	0			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:3449019G>A	ENST00000443272.2	+	7	1017	c.966G>A	c.(964-966)tcG>tcA	p.S322S	NFIC_ENST00000341919.3_Silent_p.S322S|NFIC_ENST00000586919.1_Silent_p.S289S|NFIC_ENST00000589123.1_Silent_p.S313S|NFIC_ENST00000346156.5_Silent_p.S289S|NFIC_ENST00000395111.3_Silent_p.S313S|NFIC_ENST00000590282.1_Silent_p.S322S	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	322					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAGGCATCTCGTCCCCGGTGA	0.632																																						uc010xhi.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(964-966)tcG>tcA		Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.							139	117	124					19																	3449019		2203	4300	6503	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3449019G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.966G>A	19.37:g.3449019G>A						NFIC_uc002lxo.3_Silent_p.S313S|NFIC_uc010xhh.2_Silent_p.S313S|NFIC_uc010xhj.2_Silent_p.S322S|NFIC_uc002lxp.3_Silent_p.S322S	p.S322S	NM_001245002	NP_001231931	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	6	1036	+		Hepatocellular(1079;0.137)	322					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.966G>A	CCDS59330.1																																																																																				0.632	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		A	3449019	G	A	3449019	2	1	129	1	0	0	0	0	0	0	0	1	10372	1132	40	1		1	NFIC	19	3449019	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08		3449019	55679964	41	8832											
TYK2	7297	broad.mit.edu	37	chr19	10467283	10467283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcacgcaggatggtgcGgaatgatggcctctgggttg	7	9	18	7	2	2	1	1	1	1	0	2	4	2	3	1	6	1	2	1	6	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:10467283G>A	ENST00000525621.1	-	18	3059	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TYK2_ENST00000264818.6_Missense_Mutation_p.R860C|TYK2_ENST00000524462.1_Missense_Mutation_p.R675C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	860	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGATGGTGCGGAATGATGGC	0.662																																						uc002moc.4																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2578-2580)Cgc>Tgc		Homo sapiens tyrosine kinase 2 (TYK2), mRNA.							130	91	104					19																	10467283		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10467283G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2578C>T	19.37:g.10467283G>A	ENSP00000431885:p.Arg860Cys					TYK2_uc010dxe.3_Missense_Mutation_p.R675C	p.R860C	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		17	2956	-			860			Protein kinase 1.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2578C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444112	0.63067	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.83335	-1.71;-1.71;-1.71	5.11	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000084	D	0.91348	0.7271	M	0.90595	3.13	0.80722	D	1	D	0.61080	0.989	P	0.59115	0.852	D	0.92970	0.6397	10	0.87932	D	0	-44.7027	16.0585	0.80822	0.0:0.0:1.0:0.0	.	860	P29597	TYK2_HUMAN	C	675;860;860;607	ENSP00000433203:R675C;ENSP00000431885:R860C;ENSP00000264818:R860C	ENSP00000264818:R860C	R	-	1	0	TYK2	10328283	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	1.935000	0.40173	2.655000	0.90218	0.655000	0.94253	CGC		0.662	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			A	10467283	G	A	10467283	3	1	129	1	0	0	0	0	1	0	0	0	16807	1116	39	2	1017	2	TYK2	19	10467283	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	7018264	10467283	48661700	42	8833											
SARS2	54938	broad.mit.edu	37	chr19	39408365	39408365	+	Splice_Site	DEL	G	G	-																															ccctggcccctctccacaccGgaagtgcaagcccagctctg																										TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:39408365delG	ENST00000221431.6	-	12	1318	c.1159delC	c.(1159-1161)cgg>gg	p.R387fs	CTC-360G5.8_ENST00000599996.1_Splice_Site_p.P456fs|SARS2_ENST00000598831.1_Splice_Site_p.R35fs|SARS2_ENST00000594171.1_Splice_Site_p.R197fs|SARS2_ENST00000448145.2_Splice_Site_p.R387fs|SARS2_ENST00000430193.3_Splice_Site_p.R387fs|SARS2_ENST00000600042.1_Splice_Site_p.R389fs	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	387					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTCCACACCGGAAGTGCAAG	0.637																																						uc010xup.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.e13+1		Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							62	57	58					19																	39408365		2203	4300	6503	SO:0001630	splice_region_variant	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39408365delG	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1160+1C>-	19.37:g.39408365delG						SARS2_uc002ojz.2_Splice_Site_p.R197_splice|SARS2_uc002oka.2_Splice_Site_p.R387_splice|SARS2_uc010xuq.1_Splice_Site_p.R387_splice|SARS2_uc010xur.1_Splice_Site	p.R389_splice	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		13	1326	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		387					A6NHW7|B4DE10|Q9BVP3	Frame_Shift_Del	DEL	ENST00000221431.6	37	c.1166_splice	CCDS33017.1																																																																																				0.637	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827	Frame_Shift_Del	-	39408365	G	-	39408365	8	5	129	1	0	1	0	1	0	0	1	0	13845	1130	39	0	417	0	SARS2	19	39408365	Splice_Site	DEL	G	TCGA-14-0787-01A-01W-0424-08	28941082	39408365	19720618	43	8834											
ZNF610	162963	broad.mit.edu	37	chr19	52869863	52869863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgacaaagtctttgggcGcaaattatacctaaccaacc	14	10	7	10	1	1	1	0	1	1	0	1	1	1	1	3	1	3	1	3	1	6	4	rs150692972		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:52869863G>A	ENST00000403906.3	+	6	1688	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	ZNF610_ENST00000601151.1_Missense_Mutation_p.R368H|ZNF610_ENST00000321287.8_Missense_Mutation_p.R411H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R411H	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTTGGGCGCAAATTATAC	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		19080	0		0	False		,,,				2504	0					uc002pyx.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1231-1233)cGc>cAc		Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	58	55	56		1232,1232,1103,1232	-3.8	0	19	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	411/463,411/463,368/420,411/463	52869863	2,13004	2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869863G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1232G>A	19.37:g.52869863G>A	ENSP00000383922:p.Arg411His					ZNF610_uc002pyy.4_Missense_Mutation_p.R411H|ZNF610_uc002pyz.4_Missense_Mutation_p.R368H|ZNF610_uc002pza.3_Missense_Mutation_p.R411H	p.R411H	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1638	+			411					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.1232G>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	1.007	-0.688972	0.03328	4.54E-4	0.0	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07327	3.2;3.2	1.88	-3.76	0.04359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	L	0.39020	1.185	0.09310	N	1	B;B	0.29378	0.205;0.243	B;B	0.11329	0.004;0.006	T	0.44847	-0.9301	9	0.10636	T	0.68	.	0.1648	0.00107	0.3126:0.152:0.2481:0.2874	.	368;411	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	H	411;368;411	ENSP00000383922:R411H;ENSP00000327597:R411H	ENSP00000324441:R368H	R	+	2	0	ZNF610	57561675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-2.397000	0.00581	-1.058000	0.02302	CGC		0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52869863	G	A	52869863	3	1	129	1	0	0	0	0	1	0	0	0	18033	1087	38	1	1246	1	ZNF610	19	52869863	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	13461498	52869863	6259120	44	8835											
KIR2DL1	3811	broad.mit.edu	37	chr19	55284986	55284986	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccatcagtcgcatgaCgcaagacctggcagggacct	9	8	10	14	2	2	2	1	1	1	1	4	3	2	3	3	2	0	3	3	2	1	1	rs687485	byFrequency	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:55284986C>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.T91M|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.T91M|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGTCGCATGACGCAAGACCTG	0.532																																						uc010erz.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(271-273)aCg>aTg		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.							280	243	256					19																	55284986		2172	4212	6384	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284986C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44003C>T	19.37:g.55284986C>T						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.T91M	p.T91M	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	310	+			91			Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.272C>T		.	.	.	.	.	.	.	.	.	.	C	0.414	-0.911548	0.02434	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.28666	1.6;1.6	1.24	0.116	0.14647	.	.	.	.	.	T	0.11153	0.0272	N	0.02973	-0.45	0.09310	N	1	P;P	0.42993	0.765;0.797	B;B	0.44163	0.322;0.443	T	0.10064	-1.0646	9	0.07813	T	0.8	.	3.815	0.08812	0.0:0.7435:0.0:0.2565	rs687485;rs17173097	91;91	Q6IST4;Q6H2H3	.;.	M	91	ENSP00000336769:T91M;ENSP00000291633:T91M	ENSP00000291633:T91M	T	+	2	0	KIR2DL1	59976798	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.126000	0.03254	0.106000	0.17784	-0.552000	0.04208	ACG		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		T	55284986	C	T	55284986	1	4	129	0	1	0	0	0	0	0	0	0	8316	536	19	1		1	KIR2DL1	19	55284986	Intron	SNP	C	TCGA-14-0787-01A-01W-0424-08	2415123	55284986	3843997	45	8836											
APOBEC3A	200315	broad.mit.edu	37	chr22	39357613	39357613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccgcatctatgattaCgaccccctatataaggaggc	10	9	9	13	2	1	1	0	1	1	0	1	3	1	2	3	2	2	2	3	2	5	5	rs141631289		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr22:39357613C>T	ENST00000402255.1	+	4	600	c.396C>T	c.(394-396)taC>taT	p.Y132Y	APOBEC3A_ENST00000249116.2_Silent_p.Y132Y			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	132					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)	p.Y132Y(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TCTATGATTACGACCCCCTAT	0.572																																						uc003awn.2																			1	Substitution - coding silent(1)	p.Y132Y(1)	lung(1)	cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(394-396)taC>taT		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.		C		1,4245		0,1,2122	59	66	64		396	-0.6	0	22	dbSNP_134	64	2,8136		0,2,4067	no	coding-synonymous	APOBEC3A	NM_145699.3		0,3,6189	TT,TC,CC		0.0246,0.0236,0.0242		132/200	39357613	3,12381	2123	4069	6192	SO:0001819	synonymous_variant	200315				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39357613C>T	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.396C>T	22.37:g.39357613C>T						APOBEC3B_uc011aob.1_Silent_p.Y114Y|APOBEC3B_uc011aoc.1_Silent_p.Y132Y	p.Y132Y	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN			2	566	+	Melanoma(58;0.04)		315					A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	c.396C>T	CCDS13981.1																																																																																				0.572	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		T	39357613	C	T	39357613	2	4	129	1	0	0	0	0	0	0	0	1	789	547	19	1		1	APOBEC3A	22	39357613	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		39357613	11946953	46	8837											
RLIM	51132	broad.mit.edu	37	chrX	73811411	73811411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtagtttacgaagtttgttgCcttctgtatattctgtaatg	8	19	9	5	1	2	0	0	0	2	0	2	1	2	0	1	0	2	6	1	0	6	10			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chrX:73811411C>T	ENST00000332687.6	-	4	1957	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	RLIM_ENST00000349225.2_Missense_Mutation_p.G580D	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	580					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTGTTGCCTTCTGTATA	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1738-1740)gGc>gAc		Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.							133	104	114					X																	73811411		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811411C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1739G>A	X.37:g.73811411C>T	ENSP00000328059:p.Gly580Asp					RLIM_uc004ebw.3_Missense_Mutation_p.G580D	p.G580D	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			4	2029	-			580					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1739G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.408930	0.62399	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.83275	0.996	T	0.61753	-0.6998	10	0.51188	T	0.08	-11.6683	18.3591	0.90368	0.0:1.0:0.0:0.0	.	580	Q9NVW2	RNF12_HUMAN	D	580	ENSP00000328059:G580D;ENSP00000253571:G580D	ENSP00000328059:G580D	G	-	2	0	RLIM	73728136	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	2.275000	0.75901	0.600000	0.82982	GGC		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		T	73811411	C	T	73811411	3	4	129	1	0	0	0	0	1	0	0	0	13390	739	26	3	139	3	RLIM	23	73811411	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		73811411	81459149	47	8838											
CHD5	26038	broad.mit.edu	37	chr1	6189033	6189033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcatcatcttgcgcttggCcacctgcgtgatgcgctcct	5	11	11	14	3	2	1	1	1	1	0	3	2	3	1	3	1	4	3	3	1	0	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:6189033C>A	ENST00000262450.3	-	23	3583	c.3484G>T	c.(3484-3486)Gcc>Tcc	p.A1162S	CHD5_ENST00000378021.1_Missense_Mutation_p.A19S	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGCGCTTGGCCACCTGCGTG	0.642																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3484-3486)Gcc>Tcc		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							65	58	60					1																	6189033		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6189033C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3484G>T	1.37:g.6189033C>A	ENSP00000262450:p.Ala1162Ser					CHD5_uc001alz.2_Missense_Mutation_p.A19S|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.A1162S	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	22	3595	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1162			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3484G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044221	0.93685	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.95412	-3.7;1.08	4.1	4.1	0.47936	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.96821	0.8962	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.968;0.999	D	0.97400	0.9995	10	0.66056	D	0.02	-21.7686	16.8544	0.86002	0.0:1.0:0.0:0.0	.	1162;19	Q8TDI0;Q5TG85	CHD5_HUMAN;.	S	1162;678;19;570;570;19	ENSP00000262450:A1162S;ENSP00000367260:A19S	ENSP00000262450:A1162S	A	-	1	0	CHD5	6111620	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.662000	0.83803	2.268000	0.75426	0.561000	0.74099	GCC		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6189033	C	A	6189033	3	1	130	1	0	0	0	0	1	0	0	0	3328	739	26	5	2456	5	CHD5	1	6189033	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		6189033	243061588	1	8839											
MRTO4	51154	broad.mit.edu	37	chr1	19584462	19584462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcagctgggcctgccCaccgccctcaagagaggtat	8	6	12	15	1	2	1	2	0	0	1	2	2	2	1	4	3	2	3	4	3	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:19584462C>T	ENST00000330263.4	+	6	774	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	159					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTGCCCACCGCCCTCA	0.607																																					GBM(192;2418 3032 7540 48714)	uc001bbs.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(475-477)ccC>ccT		Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.							34	39	37					1																	19584462		2203	4299	6502	SO:0001819	synonymous_variant	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584462C>T	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.477C>T	1.37:g.19584462C>T							p.P159P	NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	732	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	159					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	c.477C>T	CCDS191.1																																																																																				0.607	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		T	19584462	C	T	19584462	2	4	130	1	0	0	0	0	0	0	0	1	9852	581	21	3		3	MRTO4	1	19584462	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	13395429	19584462	229666159	2	8840											
HPCAL4	51440	broad.mit.edu	37	chr1	40149794	40149794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggaaagcgtgctgcgCgaacttggaggcgtcgccgt	6	7	18	10	7	0	0	0	0	0	0	1	3	0	2	1	4	5	1	1	4	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:40149794C>T	ENST00000372844.3	-	3	584	c.193G>A	c.(193-195)Gcg>Acg	p.A65T		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	65	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)	p.A65S(1)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTGCTGCGCGAACTTGGAG	0.682																																						uc001cdr.3																			1	Substitution - Missense(1)	p.A65S(2)	lung(1)	breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(193-195)Gcg>Acg		Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.							38	36	37					1																	40149794		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40149794C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.193G>A	1.37:g.40149794C>T	ENSP00000361935:p.Ala65Thr					HPCAL4_uc010oix.2_Intron	p.A65T	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	313	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	65			EF-hand 2.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.193G>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424307	0.96111	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.32023	1.47	3.51	3.51	0.40186	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	P	0.58172	0.834	T	0.54886	-0.8226	10	0.87932	D	0	.	16.3574	0.83241	0.0:1.0:0.0:0.0	.	65	Q9UM19	HPCL4_HUMAN	T	65;57	ENSP00000361935:A65T	ENSP00000361935:A65T	A	-	1	0	HPCAL4	39922381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.542000	0.82095	2.260000	0.74910	0.462000	0.41574	GCG		0.682	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		T	40149794	C	T	40149794	3	4	130	1	0	0	0	0	1	0	0	0	7331	768	27	1	390	1	HPCAL4	1	40149794	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	20565332	40149794	209100827	3	8841											
C1orf177	163747	broad.mit.edu	37	chr1	55277777	55277777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccttgagacatatgtggCacgatccgtcggcacccgcg	8	7	12	14	6	0	1	0	1	0	1	2	4	1	1	3	2	0	2	3	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:55277777C>A	ENST00000371273.3	+	6	692	c.677C>A	c.(676-678)gCa>gAa	p.A226E	C1orf177_ENST00000358193.3_Missense_Mutation_p.A226E	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	226										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACATATGTGGCACGATCCGTC	0.592																																						uc001cyb.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(676-678)gCa>gAa		Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.							102	102	102					1																	55277777		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55277777C>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.677C>A	1.37:g.55277777C>A	ENSP00000360320:p.Ala226Glu					C1orf177_uc001cya.4_Missense_Mutation_p.A226E	p.A226E	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			5	731	+			226					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.677C>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401623	0.01165	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23348	1.91;1.91	5.06	-2.02	0.07388	.	1.063300	0.07353	N	0.882736	T	0.14313	0.0346	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.36456	-0.9747	10	0.06494	T	0.89	-17.9711	7.7287	0.28775	0.4871:0.2648:0.2481:0.0	.	226;226	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	E	226	ENSP00000350924:A226E;ENSP00000360320:A226E	ENSP00000350924:A226E	A	+	2	0	C1orf177	55050365	0.002000	0.14202	0.033000	0.17914	0.002000	0.02628	-0.310000	0.08135	0.026000	0.15269	-0.521000	0.04368	GCA		0.592	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		A	55277777	C	A	55277777	3	1	130	1	0	0	0	0	1	0	0	0	2017	710	25	5	699	5	C1orf177	1	55277777	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15127983	55277777	193972844	4	8842											
GPSM2	29899	broad.mit.edu	37	chr1	109472462	109472462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagagttcttttacaaaGagatcaaaacagagacactg	18	8	8	7	0	2	3	1	0	1	3	2	6	2	3	0	0	2	1	0	0	4	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:109472462G>C	ENST00000406462.2	+	16	2728	c.1955G>C	c.(1954-1956)aGa>aCa	p.R652T	CLCC1_ENST00000369969.2_3'UTR|CLCC1_ENST00000369971.2_3'UTR|CLCC1_ENST00000415331.1_3'UTR|CLCC1_ENST00000369968.2_3'UTR|CLCC1_ENST00000356970.2_3'UTR|GPSM2_ENST00000264126.3_Missense_Mutation_p.R652T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_5'Flank			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	652					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTTACAAAGAGATCAAAAC	0.398																																						uc010ovc.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(1954-1956)aGa>aCa		Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.							88	87	87					1																	109472462		2203	4300	6503	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109472462G>C	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1955G>C	1.37:g.109472462G>C	ENSP00000385510:p.Arg652Thr					AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R652T|GPSM2_uc010ove.1_Missense_Mutation_p.R652T|CLCC1_uc001dwg.1_3'UTR|CLCC1_uc001dwf.1_3'UTR	p.R652T	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	14	2451	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	652					Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.1955G>C	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331540	0.41297	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.92911	-3.13;-3.13	5.97	5.97	0.96955	.	0.115109	0.64402	D	0.000020	T	0.75903	0.3913	N	0.08118	0	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.79801	-0.1650	10	0.14656	T	0.56	-21.6606	19.1953	0.93686	0.0:0.0:1.0:0.0	.	652	P81274	GPSM2_HUMAN	T	652	ENSP00000385510:R652T;ENSP00000264126:R652T	ENSP00000264126:R652T	R	+	2	0	GPSM2	109273985	0.963000	0.33076	1.000000	0.80357	0.996000	0.88848	1.239000	0.32719	2.828000	0.97474	0.655000	0.94253	AGA		0.398	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		C	109472462	G	C	109472462	3	2	130	1	0	0	0	0	1	0	0	0	6735	942	33	5	2009	5	GPSM2	1	109472462	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54194685	109472462	139778159	5	8843											
ZNF697	90874	broad.mit.edu	37	chr1	120165477	120165477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataaagctcttgccgcactCgatgcacgtgtagggcttct	8	11	11	11	3	2	0	0	0	2	0	3	2	2	0	1	1	3	5	1	1	3	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:120165477C>T	ENST00000421812.2	-	3	1608	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTGCCGCACTCGATGCACGTG	0.647																																						uc001ehy.1																			0				ovary(2)	2						c.(1489-1491)Gag>Aag		Homo sapiens zinc finger protein 697 (ZNF697), mRNA.							31	35	33					1																	120165477		2201	4299	6500	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165477C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1489G>A	1.37:g.120165477C>T	ENSP00000396857:p.Glu497Lys						p.E497K	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	2	1603	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	497					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1489G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825465	0.71143	.	.	ENSG00000143067	ENST00000421812	T	0.01152	5.26	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36972	N	0.002309	T	0.01254	0.0041	N	0.19112	0.55	0.34359	D	0.690765	D	0.76494	0.999	D	0.66351	0.943	T	0.62996	-0.6735	10	0.62326	D	0.03	-23.8521	10.4776	0.44674	0.0:0.9116:0.0:0.0884	.	497	Q5TEC3	ZN697_HUMAN	K	497	ENSP00000396857:E497K	ENSP00000396857:E497K	E	-	1	0	ZNF697	119967000	0.667000	0.27484	1.000000	0.80357	0.525000	0.34531	1.664000	0.37439	2.713000	0.92767	0.655000	0.94253	GAG		0.647	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		T	120165477	C	T	120165477	3	4	130	1	0	0	0	0	1	0	0	0	18097	893	31	2	152	2	ZNF697	1	120165477	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	10693015	120165477	129085144	6	8844											
PDE4DIP	9659	broad.mit.edu	37	chr1	144886204	144886204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgctggtggaactcagcCctcaggtggagcatttcttc	8	11	12	10	0	3	0	2	0	1	0	4	2	3	2	1	4	4	2	1	4	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:144886204C>T	ENST00000369354.3	-	23	3219	c.3030G>A	c.(3028-3030)agG>agA	p.R1010R	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.R1147R|PDE4DIP_ENST00000369356.4_Silent_p.R1010R|PDE4DIP_ENST00000313382.9_Silent_p.R1076R|PDE4DIP_ENST00000369359.4_Silent_p.R1147R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1010					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R1010S(2)|p.R1010N(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCAGCCCTCAGGTGGA	0.522			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		4	Substitution - Missense(4)	p.R1010S(3)|p.R1010N(3)|p.R1010K(1)	lung(4)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3028-3030)agG>agA		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							210	204	206					1																	144886204		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886204C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3030G>A	1.37:g.144886204C>T						NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.R1010R|PDE4DIP_uc001elx.4_Silent_p.R1076R|PDE4DIP_uc001elv.4_Silent_p.R17R	p.R1010R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	22	3332	-			1010					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3030G>A	CCDS30824.1																																																																																				0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144886204	C	T	144886204	2	4	130	1	0	0	0	0	0	0	0	1	11643	622	22	3		3	PDE4DIP	1	144886204	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	24720727	144886204	104364417	7	8845											
LINGO4	339398	broad.mit.edu	37	chr1	151774395	151774395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggcaccgagctcagattGcagcgagtgatggccaggct	10	6	15	10	2	1	2	1	1	0	1	1	4	1	2	2	3	3	4	2	3	1	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:151774395G>A	ENST00000368820.3	-	2	1723	c.786C>T	c.(784-786)tgC>tgT	p.C262C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	262						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAGATTGCAGCGAGTGA	0.607																																						uc001ezf.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(784-786)tgC>tgT		Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.							59	63	62					1																	151774395		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774395G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.786C>T	1.37:g.151774395G>A						LINGO4_uc021oyu.1_Silent_p.C262C	p.C262C	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	976	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		262						Silent	SNP	ENST00000368820.3	37	c.786C>T	CCDS30855.1																																																																																				0.607	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		A	151774395	G	A	151774395	2	1	130	1	0	0	0	0	0	0	0	1	8817	1311	46	3		3	LINGO4	1	151774395	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	6888191	151774395	97476226	8	8846											
FLG2	388698	broad.mit.edu	37	chr1	152329096	152329096	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaccattactacaagacTggctacctccagacccatat	12	10	6	13	0	0	3	0	1	0	2	1	3	1	3	4	1	3	2	4	1	5	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152329096T>G	ENST00000388718.5	-	3	1238	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	389	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACAAGACTGGCTACCTCC	0.443																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1165-1167)cAg>cCg		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							124	118	120					1																	152329096		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329096T>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1166A>C	1.37:g.152329096T>G	ENSP00000373370:p.Gln389Pro					AK056431_uc001ezv.3_Intron	p.Q389P	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1239	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		389			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1166A>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864409	0.32977	.	.	ENSG00000143520	ENST00000388718	T	0.19105	2.17	5.09	1.36	0.22044	.	.	.	.	.	T	0.07548	0.0190	L	0.59436	1.845	0.09310	N	1	P	0.41978	0.767	B	0.39971	0.315	T	0.21793	-1.0235	9	0.33940	T	0.23	-13.0781	4.2415	0.10650	0.0:0.1854:0.174:0.6406	.	389	Q5D862	FILA2_HUMAN	P	389	ENSP00000373370:Q389P	ENSP00000373370:Q389P	Q	-	2	0	FLG2	150595720	0.151000	0.22747	0.797000	0.32132	0.007000	0.05969	0.631000	0.24568	0.390000	0.25115	-0.256000	0.11100	CAG		0.443	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152329096	T	G	152329096	3	3	130	1	0	0	0	0	1	0	0	0	5923	1580	55	5	6013	5	FLG2	1	152329096	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	554701	152329096	96921525	9	8847											
CRNN	49860	broad.mit.edu	37	chr1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgctgccctttccccGcccttcccacttcagtgcca	6	11	5	19	1	1	0	1	0	0	0	3	0	3	0	6	0	3	1	6	0	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152383181G>A	ENST00000271835.3	-	3	439	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	126					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637																																						uc001ezx.2																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(376-378)gCg>gTg		Homo sapiens cornulin (CRNN), mRNA.							153	168	163					1																	152383181		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383181G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.377C>T	1.37:g.152383181G>A	ENSP00000271835:p.Ala126Val						p.A126V	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	451	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		126					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.377C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947251	0.34377	.	.	ENSG00000143536	ENST00000271835	T	0.04275	3.66	4.63	-1.58	0.08479	.	1.097220	0.07086	N	0.837952	T	0.00906	0.0030	N	0.20986	0.625	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.49204	-0.8964	10	0.46703	T	0.11	.	0.4844	0.00553	0.3946:0.1445:0.241:0.2199	.	126	Q9UBG3	CRNN_HUMAN	V	126	ENSP00000271835:A126V	ENSP00000271835:A126V	A	-	2	0	CRNN	150649805	0.000000	0.05858	0.000000	0.03702	0.576000	0.36127	-1.053000	0.03500	-0.148000	0.11234	0.305000	0.20034	GCG		0.637	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		A	152383181	G	A	152383181	3	1	130	1	0	0	0	0	1	0	0	0	3892	1087	38	1	1114	1	CRNN	1	152383181	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54085	152383181	96867440	10	8848											
S100A7A	338324	broad.mit.edu	37	chr1	153390660	153390660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagccaagcctgctgacGatgatgaaggagaacttccc	13	6	12	10	1	0	5	0	3	0	2	1	8	1	5	3	1	4	1	3	1	4	1	rs370692845		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:153390660G>A	ENST00000368729.4	+	2	159	c.102G>A	c.(100-102)acG>acA	p.T34T	S100A7A_ENST00000368728.2_Silent_p.T34T|S100A7A_ENST00000329256.2_Silent_p.T34T	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	34	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGCTGACGATGATGAAGG	0.483													G|||	1	0.000199681	0	0	5008	,	,		20814	0		0.001	False		,,,				2504	0					uc001fbt.1																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(100-102)acG>acA		Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.		G		0,4406		0,0,2203	205	178	187		102	0.5	0	1		187	1,8599		0,1,4299	no	coding-synonymous	S100A7A	NM_176823.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		34/102	153390660	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153390660G>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.102G>A	1.37:g.153390660G>A							p.T34T	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	159	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		34			EF-hand 1.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.102G>A	CCDS30872.1																																																																																				0.483	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		A	153390660	G	A	153390660	2	1	130	1	0	0	0	0	0	0	0	1	13784	1045	37	2		2	S100A7A	1	153390660	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	1007479	153390660	95859961	11	8849											
HMCN1	83872	broad.mit.edu	37	chr1	186052023	186052023	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactcaaataacagatatCggcaggtatgtgtgtgttgc	13	12	10	6	1	1	1	1	0	0	1	2	1	1	1	0	2	3	3	0	2	6	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:186052023C>A	ENST00000271588.4	+	57	9043	c.8814C>A	c.(8812-8814)atC>atA	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2938	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAACAGATATCGGCAGGTATG	0.328																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8812-8814)atC>atA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							52	58	56					1																	186052023		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186052023C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8814C>A	1.37:g.186052023C>A						MIR548F1_uc021pgf.1_Intron	p.I2938I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			56	9043	+			2938			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8814C>A	CCDS30956.1																																																																																				0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186052023	C	A	186052023	2	1	130	1	0	0	0	0	0	0	0	1	7220	874	31	5		5	HMCN1	1	186052023	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	32661363	186052023	63198598	12	8850											
HHIPL2	79802	broad.mit.edu	37	chr1	222713493	222713493	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagaatatccggcctcGgccctggcgcgtgatggggt	6	7	14	14	4	0	2	0	1	0	1	2	2	1	2	4	5	0	0	4	5	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:222713493G>A	ENST00000343410.6	-	4	1367	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	437					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATCCGGCCTCGGCCCTGGCGC	0.577																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1309-1311)Cga>Tga		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							71	72	72					1																	222713493		2203	4300	6503	SO:0001587	stop_gained	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713493G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1309C>T	1.37:g.222713493G>A	ENSP00000342118:p.Arg437*						p.R437*	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	3	1367	-			437					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Nonsense_Mutation	SNP	ENST00000343410.6	37	c.1309C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	34	5.367408	0.95900	.	.	ENSG00000143512	ENST00000343410	.	.	.	5.52	4.55	0.56014	.	0.054840	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7232	11.565	0.50800	0.0:0.0:0.661:0.339	.	.	.	.	X	437	.	ENSP00000342118:R437X	R	-	1	2	HHIPL2	220780116	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	3.339000	0.52135	2.571000	0.86741	0.591000	0.81541	CGA		0.577	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222713493	G	A	222713493	4	1	130	1	0	0	0	0	0	1	0	0	7094	1124	39	2	889	2	HHIPL2	1	222713493	Nonsense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	36661470	222713493	26537128	13	8851											
RYR2	6262	broad.mit.edu	37	chr1	237802413	237802413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaaggtgggaatgggCttcttgcagcaatggaagaa	13	7	17	4	0	1	2	0	0	1	2	1	6	1	4	0	5	2	3	0	5	5	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:237802413C>T	ENST00000366574.2	+	46	7344	c.7027C>T	c.(7027-7029)Ctt>Ttt	p.L2343F	RYR2_ENST00000360064.6_Missense_Mutation_p.L2341F|RYR2_ENST00000542537.1_Missense_Mutation_p.L2327F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2343	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGAATGGGCTTCTTGCAGC	0.498																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7027-7029)Ctt>Ttt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							126	128	127					1																	237802413		1934	4125	6059	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802413C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7027C>T	1.37:g.237802413C>T	ENSP00000355533:p.Leu2343Phe						p.L2343F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7147	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2343			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7027C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829349	0.71258	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99311	-5.73;-5.73;-5.73	5.05	5.05	0.67936	.	0.000000	0.50627	D	0.000116	D	0.99327	0.9764	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99072	1.0834	10	0.87932	D	0	.	9.0377	0.36298	0.0:0.7907:0.0:0.2093	.	2343	Q92736	RYR2_HUMAN	F	2343;2341;2327	ENSP00000355533:L2343F;ENSP00000353174:L2341F;ENSP00000443798:L2327F	ENSP00000353174:L2341F	L	+	1	0	RYR2	235869036	0.441000	0.25626	0.993000	0.49108	0.975000	0.68041	0.935000	0.28924	2.498000	0.84270	0.561000	0.74099	CTT		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237802413	C	T	237802413	3	4	130	1	0	0	0	0	1	0	0	0	13769	797	28	3	7209	3	RYR2	1	237802413	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15088920	237802413	11448208	14	8852											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698942	17698942	+	Frame_Shift_Del	DEL	T	T	-																															ctatctctaaaatagctaggTttggcaatttccaagctggg																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:17698942delT	ENST00000399080.2	-	1	764	c.741delA	c.(739-741)aaafs	p.K247fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	247										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATAGCTAGGTTTGGCAATTT	0.353																																						uc002rcl.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(739-741)aaafs		Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.							80	72	74					2																	17698942		1814	4082	5896	SO:0001589	frameshift_variant	729475							g.chr2:17698942delT	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.741delA	2.37:g.17698942delT	ENSP00000382030:p.Lys247fs					RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K238fs	p.K247fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			0	765	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		247						Frame_Shift_Del	DEL	ENST00000399080.2	37	c.741delA	CCDS42656.1																																																																																				0.353	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		-	17698942	T	-	17698942	7	5	130	1	0	1	0	1	0	0	0	0	12987	1722	60	0	2750	0	RAD51AP2	2	17698942	Frame_Shift_Del	DEL	T	TCGA-14-0789-01A-01W-0424-08		17698942	225500431	15	8853											
ADCY3	109	broad.mit.edu	37	chr2	25095488	25095489	+	Frame_Shift_Ins	INS	-	-	G																															cttcacctccagcgactggcINSgggcctccaggaaggccttg																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:25095488_25095489insG	ENST00000260600.5	-	2	1626_1627	c.775_776insC	c.(775-777)cgcfs	p.R259fs		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	259					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAGCGACTGGCGGGCCTCCAGG	0.634																																						uc010ykm.2																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(775-777)cgcfs		Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.																																				SO:0001589	frameshift_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25095488_25095489insG	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.776dupC	2.37:g.25095491_25095491dupG	ENSP00000260600:p.Arg259fs					ADCY3_uc002rfs.4_Frame_Shift_Ins_p.R259fs	p.R259fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN			1	974_975	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		259					B3KT86|Q53T54|Q9UDB1	Frame_Shift_Ins	INS	ENST00000260600.5	37	c.775_776insC	CCDS1715.1																																																																																				0.634	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			G	25095489	-	G	25095488	7	5	130	1	0	1	1	0	0	0	0	0	295	768	27	0	2738	0	ADCY3	2	25095488	Frame_Shift_Ins	INS	-	TCGA-14-0789-01A-01W-0424-08	7396546	25095488	218103885	16	8854											
PLB1	151056	broad.mit.edu	37	chr2	28761204	28761204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgggcttgcggcgggcGgcgtggatgagctgatgggg	6	7	22	6	4	0	3	0	2	0	1	0	4	0	4	0	7	2	2	0	7	1	1	rs149462466		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:28761204G>A	ENST00000327757.5	+	10	618	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	PLB1_ENST00000422425.2_Missense_Mutation_p.G203S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	192	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCGGCGGGCGGCGTGGATGA	0.642																																						uc002rmb.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(574-576)Ggc>Agc		Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.		G	SER/GLY,SER/GLY	0,4406		0,0,2203	41	39	40		607,574	-9.8	0	2	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLB1	NM_001170585.1,NM_153021.4	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	203/1448,192/1459	28761204	1,13005	2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28761204G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.574G>A	2.37:g.28761204G>A	ENSP00000330442:p.Gly192Ser					PLB1_uc010ezj.2_Missense_Mutation_p.G203S	p.G192S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			9	618	+	Acute lymphoblastic leukemia(172;0.155)		192			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.574G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.903942	0.17760	0.0	1.16E-4	ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425	T;T;T	0.20881	2.04;2.82;2.83	4.91	-9.82	0.00484	.	2.123970	0.02270	N	0.068336	T	0.09686	0.0238	N	0.16903	0.455	0.09310	N	1	B;B	0.28760	0.221;0.04	B;B	0.21708	0.036;0.007	T	0.06481	-1.0824	10	0.22109	T	0.4	0.081	7.1501	0.25606	0.6834:0.1:0.1206:0.096	.	203;192	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	S	147;192;203	ENSP00000407076:G147S;ENSP00000330442:G192S;ENSP00000416440:G203S	ENSP00000330442:G192S	G	+	1	0	PLB1	28614708	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.968000	0.01507	-2.422000	0.00563	-1.469000	0.01011	GGC		0.642	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28761204	G	A	28761204	3	1	130	1	0	0	0	0	1	0	0	0	12024	1116	39	2	645	2	PLB1	2	28761204	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	3665716	28761204	214438169	17	8855											
LRP1B	53353	broad.mit.edu	37	chr2	141081530	141081530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatttaaagctaagtacTctactgaaccatggccaaat	16	11	5	9	0	1	1	0	1	1	0	1	1	1	1	2	1	4	2	2	1	9	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:141081530T>C	ENST00000389484.3	-	81	13417	c.12446A>G	c.(12445-12447)gAg>gGg	p.E4149G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4149					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTAAGTACTCTACTGAACC	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0		p.E4149*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12445-12447)gAg>gGg		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							64	73	70					2																	141081530		2202	4286	6488	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081530T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12446A>G	2.37:g.141081530T>C	ENSP00000374135:p.Glu4149Gly	TSP Lung(27;0.18)					p.E4149G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	80	13418	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4149					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12446A>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.15|17.15	3.314960|3.314960	0.60524|0.60524	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91068|.	-2.78|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.74647|0.74647	2.275|2.275	0.43771|0.43771	D|D	0.996299|0.996299	B|.	0.21606|.	0.058|.	B|.	0.23419|.	0.046|.	T|T	0.75528|0.75528	-0.3286|-0.3286	10|5	0.44086|.	T|.	0.13|.	.|.	15.6612|15.6612	0.77188|0.77188	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4149|.	Q9NZR2|.	LRP1B_HUMAN|.	G|G	4149;4087|381	ENSP00000374135:E4149G|.	ENSP00000374135:E4149G|.	E|S	-|-	2|1	0|0	LRP1B|LRP1B	140798000|140798000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.636000|7.636000	0.83301|0.83301	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141081530	T	C	141081530	3	2	130	1	0	0	0	0	1	0	0	0	8955	1551	54	4	1397	4	LRP1B	2	141081530	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	112320326	141081530	102117843	18	8856											
SGOL2	151246	broad.mit.edu	37	chr2	201437974	201437974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatggaagtcaacagtaatGaaaaggaaagttgtgatcaa	19	9	10	3	0	2	2	2	2	0	0	2	4	2	4	0	2	1	2	0	2	8	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:201437974G>A	ENST00000357799.4	+	7	3003	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	969					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAACAGTAATGAAAAGGAAAG	0.274																																						uc002uvw.2																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2905-2907)Gaa>Aaa		Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.							42	42	42					2																	201437974		1821	4059	5880	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437974G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2905G>A	2.37:g.201437974G>A	ENSP00000350447:p.Glu969Lys					SGOL2_uc010zhd.1_Missense_Mutation_p.E969K|SGOL2_uc010zhe.1_Missense_Mutation_p.E969K	p.E969K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			6	3018	+			969					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2905G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617653	0.28801	.	.	ENSG00000163535	ENST00000357799	T	0.10382	2.88	4.98	2.98	0.34508	.	0.738752	0.11953	N	0.513474	T	0.08626	0.0214	L	0.33485	1.01	0.80722	D	1	B;B;B	0.28801	0.223;0.139;0.019	B;B;B	0.28011	0.085;0.085;0.057	T	0.18304	-1.0341	10	0.44086	T	0.13	-8.7081	6.5281	0.22312	0.2255:0.0:0.7745:0.0	.	969;969;969	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	969	ENSP00000350447:E969K	ENSP00000350447:E969K	E	+	1	0	SGOL2	201146219	0.643000	0.27269	0.988000	0.46212	0.444000	0.32077	0.737000	0.26144	1.285000	0.44548	0.460000	0.39030	GAA		0.274	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		A	201437974	G	A	201437974	3	1	130	1	0	0	0	0	1	0	0	0	14217	1291	45	3	2927	3	SGOL2	2	201437974	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	60356444	201437974	41761399	19	8857											
SP140	11262	broad.mit.edu	37	chr2	231109774	231109774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgctgaagatgcacccAgcctactaccaggtggggga	11	6	14	10	0	0	3	0	1	0	2	0	5	0	4	3	3	5	2	3	3	3	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:231109774A>T	ENST00000392045.3	+	6	757	c.643A>T	c.(643-645)Agc>Tgc	p.S215C	SP140_ENST00000350136.5_Missense_Mutation_p.S195C|SP140_ENST00000343805.6_Missense_Mutation_p.S215C|SP140_ENST00000417495.3_Missense_Mutation_p.S215C|SP140_ENST00000420434.3_Missense_Mutation_p.S215C|SP140_ENST00000486687.2_Missense_Mutation_p.S215C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	215					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGATGCACCCAGCCTACTACC	0.443																																						uc002vql.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(643-645)Agc>Tgc		Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.							116	108	111					2																	231109774		1933	4144	6077	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231109774A>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.643A>T	2.37:g.231109774A>T	ENSP00000375899:p.Ser215Cys					SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.S215C|SP140_uc002vqn.3_Missense_Mutation_p.S215C|SP140_uc002vqm.3_Missense_Mutation_p.S215C|SP140_uc010fxl.3_Missense_Mutation_p.S215C	p.S215C	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	5	758	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	215					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.643A>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.837542	0.32513	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.58797	0.55;0.75;0.61;0.31;0.54	2.59	0.15	0.14883	.	.	.	.	.	T	0.52821	0.1758	L	0.27053	0.805	0.09310	N	1	D;D;D;D;D	0.69078	0.989;0.987;0.992;0.997;0.987	P;B;P;P;P	0.61328	0.712;0.334;0.668;0.887;0.468	T	0.41088	-0.9528	9	0.30078	T	0.28	-0.4504	4.578	0.12243	0.6921:0.0:0.3079:0.0	.	215;215;215;215;215	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75	.;.;.;LY10_HUMAN;.	C	215;215;195;215;215;215;215	ENSP00000440107:S215C;ENSP00000345846:S195C;ENSP00000375899:S215C;ENSP00000342096:S215C;ENSP00000398210:S215C	ENSP00000342096:S215C	S	+	1	0	SP140	230818018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.064000	0.14437	0.026000	0.15269	0.523000	0.50628	AGC		0.443	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231109774	A	T	231109774	3	4	130	1	0	0	0	0	1	0	0	0	14962	188	7	5	782	5	SP140	2	231109774	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08	29671800	231109774	12089599	20	8858											
UGT1A10	54575	broad.mit.edu	37	chr2	234545195	234545195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagggtggaccagcccCgttcctttatgtgtgtgtct	4	12	13	12	3	1	0	0	0	1	0	2	1	2	1	4	2	1	2	4	2	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:234545195C>T	ENST00000344644.5	+	1	96	c.27C>T	c.(25-27)ccC>ccT	p.P9P	UGT1A10_ENST00000373445.1_Silent_p.P9P|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	9				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GGACCAGCCCCGTTCCTTTAT	0.572																																						uc002vur.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(25-27)ccC>ccT		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						90	87	88					2																	234545195		2203	4300	6503	SO:0001819	synonymous_variant	54575				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234545195C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.27C>T	2.37:g.234545195C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.P9P	p.P9P	NM_019075	NP_061948	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	0					O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.27C>T	CCDS33403.1																																																																																				0.572	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		T	234545195	C	T	234545195	2	4	130	1	0	0	0	0	0	0	0	1	16942	639	23	2		2	UGT1A10	2	234545195	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	3435421	234545195	8654178	21	8859											
CHL1	10752	broad.mit.edu	37	chr3	405060	405060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtcacagccaatttggatAttagaagtatttttatttca	13	16	6	6	0	2	1	2	0	0	1	2	2	2	2	1	1	1	1	1	1	6	8			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:405060A>T	ENST00000256509.2	+	14	2221	c.1579A>T	c.(1579-1581)Att>Ttt	p.I527F	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.I511F|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATTTGGATATTAGAAGTAT	0.378																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1579-1581)Att>Ttt		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							104	106	106					3																	405060		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:405060A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1579A>T	3.37:g.405060A>T	ENSP00000256509:p.Ile527Phe					CHL1_uc003bou.3_Missense_Mutation_p.I511F|CHL1_uc003bow.2_Missense_Mutation_p.I511F|CHL1_uc011asi.2_Missense_Mutation_p.I527F|BC065754_uc003box.1_Non-coding_Transcript	p.I527F	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	2221	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	511			Ig-like C2-type 6.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1579A>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823280	0.71143	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.31247	1.5;1.5	5.11	3.96	0.45880	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.061471	0.64402	D	0.000003	T	0.55081	0.1898	M	0.86343	2.81	0.44402	D	0.997315	D;D;D	0.69078	0.997;0.997;0.982	D;D;P	0.73708	0.981;0.981;0.907	T	0.57505	-0.7800	10	0.87932	D	0	.	6.875	0.24141	0.816:0.0:0.184:0.0	.	511;511;527	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	F	527;511	ENSP00000256509:I527F;ENSP00000380628:I511F	ENSP00000256509:I527F	I	+	1	0	CHL1	380060	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	2.344000	0.44010	0.888000	0.36160	0.528000	0.53228	ATT		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	405060	A	T	405060	3	4	130	1	0	0	0	0	1	0	0	0	3349	449	16	5	1625	5	CHL1	3	405060	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08		405060	197617370	22	8860											
CACNA2D3	55799	broad.mit.edu	37	chr3	54930849	54930849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctggtaccgaagagccGctgagcagattccagggagc	9	7	13	12	2	1	3	0	1	1	2	3	5	2	4	3	2	4	3	3	2	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:54930849G>A	ENST00000474759.1	+	26	2368	c.2320G>A	c.(2320-2322)Gct>Act	p.A774T	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A774T|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A774T|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A680T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	774						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A774T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CCGAAGAGCCGCTGAGCAGAT	0.537																																						uc003dhf.3																			1	Substitution - Missense(1)	p.A774T(2)|p.A773V(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2320-2322)Gct>Act		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.							118	118	118					3																	54930849		1970	4159	6129	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54930849G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2320G>A	3.37:g.54930849G>A	ENSP00000419101:p.Ala774Thr					CACNA2D3_uc003dhg.1_Missense_Mutation_p.A680T|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	p.A774T	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	25	2368	+			774					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.2320G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332900	0.95758	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.73	5.73	0.89815	.	0.057226	0.64402	D	0.000001	T	0.51398	0.1672	M	0.72118	2.19	0.58432	D	0.999992	D	0.63880	0.993	P	0.57057	0.812	T	0.50268	-0.8848	10	0.62326	D	0.03	.	18.0478	0.89338	0.0:0.0:1.0:0.0	.	774	Q8IZS8	CA2D3_HUMAN	T	774;774;774;680;680	ENSP00000389506:A774T;ENSP00000419101:A774T;ENSP00000288197:A774T;ENSP00000417279:A680T	ENSP00000288197:A774T	A	+	1	0	CACNA2D3	54905889	1.000000	0.71417	0.234000	0.24042	0.947000	0.59692	9.112000	0.94314	2.861000	0.98227	0.655000	0.94253	GCT		0.537	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			A	54930849	G	A	54930849	3	1	130	1	0	0	0	0	1	0	0	0	2550	1087	38	1	2422	1	CACNA2D3	3	54930849	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54525789	54930849	143091581	23	8861											
PIK3CB	5291	broad.mit.edu	37	chr3	138417859	138417859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccaaataagatccatttCattttcacacagttgagaca	15	12	5	9	0	2	2	2	1	0	2	4	3	4	2	2	0	0	1	2	0	2	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:138417859C>T	ENST00000477593.1	-	12	1733	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E554K|PIK3CB_ENST00000544716.1_5'UTR			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	554	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCCATTTCATTTTCACAC	0.383																																						uc011bmq.2																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1660-1662)Gaa>Aaa		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							104	103	103					3																	138417859		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138417859C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1660G>A	3.37:g.138417859C>T	ENSP00000418143:p.Glu554Lys					PIK3CB_uc011bmn.2_Missense_Mutation_p.E66K|PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.E141K	p.E554K	NM_006219	NP_006210	P42338	PK3CB_HUMAN			10	1660	-			554			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1660G>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.171296|5.171296	0.94807|0.94807	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000493568	T;T|.	0.69435|.	-0.4;-0.4|.	5.91|5.91	5.04|5.04	0.67666|0.67666	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);|.	0.095718|.	0.64402|.	D|.	0.000001|.	T|T	0.73976|0.73976	0.3656|0.3656	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	P;P|.	0.48407|.	0.91;0.833|.	P;P|.	0.58391|.	0.838;0.6|.	T|T	0.74890|0.74890	-0.3510|-0.3510	10|5	0.46703|.	T|.	0.11|.	-22.153|-22.153	14.825|14.825	0.70104|0.70104	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	554;141|.	P42338;B4DZI3|.	PK3CB_HUMAN;.|.	K|I	554|185	ENSP00000418143:E554K;ENSP00000289153:E554K|.	ENSP00000289153:E554K|.	E|M	-|-	1|3	0|0	PIK3CB|PIK3CB	139900549|139900549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.487000|7.487000	0.81328|0.81328	1.513000|1.513000	0.48852|0.48852	0.460000|0.460000	0.39030|0.39030	GAA|ATG		0.383	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			T	138417859	C	T	138417859	3	4	130	1	0	0	0	0	1	0	0	0	11914	835	29	3	1598	3	PIK3CB	3	138417859	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	83487010	138417859	59604571	24	8862											
IDUA	3425	broad.mit.edu	37	chr4	995507	995507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcggagggtctgcgCgccgccagccccgccctgcg	2	5	15	19	6	1	0	0	0	1	0	2	1	1	1	6	2	4	1	6	2	0	0	rs376012666		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:995507C>T	ENST00000247933.4	+	6	718	c.630C>T	c.(628-630)cgC>cgT	p.R210R	IDUA_ENST00000453894.1_Silent_p.R163R|IDUA_ENST00000514224.1_Silent_p.R78R	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	210					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGGTCTGCGCGCCGCCAGCC	0.716																																						uc003gby.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(628-630)cgC>cgT		Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	Laronidase(DB00090)	C		0,4370		0,0,2185	9	11	11		630	-10.3	0	4		11	6,8534		0,6,4264	no	coding-synonymous	IDUA	NM_000203.3		0,6,6449	TT,TC,CC		0.0703,0.0,0.0465		210/654	995507	6,12904	2185	4270	6455	SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995507C>T	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.630C>T	4.37:g.995507C>T						IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.R163R	p.R210R	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	718	+			210					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.630C>T	CCDS3343.1																																																																																				0.716	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	995507	C	T	995507	2	4	130	1	0	0	0	0	0	0	0	1	7504	755	27	1		1	IDUA	4	995507	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		995507	190158769	25	8863											
TLR10	81793	broad.mit.edu	37	chr4	38777060	38777060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataggataaatccagtgtcGttgtggctggggtcaagtct	9	13	13	6	1	2	0	1	0	1	0	4	1	3	1	1	4	0	2	1	4	5	4	rs375480992		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:38777060G>A	ENST00000308973.4	-	4	757	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.T51M|TLR10_ENST00000506111.1_Missense_Mutation_p.T51M|TLR10_ENST00000361424.2_Missense_Mutation_p.T51M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	51					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCCAGTGTCGTTGTGGCTGG	0.448																																						uc003gtj.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(151-153)aCg>aTg		Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	84	77	79		152,152,152,110,152	3.5	0.1	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	51/812,51/812,51/812,37/798,51/812	38777060	1,13005	2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38777060G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.152C>T	4.37:g.38777060G>A	ENSP00000308925:p.Thr51Met					TLR10_uc021xnk.1_Missense_Mutation_p.T37M|TLR10_uc003gti.3_Missense_Mutation_p.T51M|TLR10_uc021xnl.1_Missense_Mutation_p.T51M|TLR10_uc003gtk.3_Missense_Mutation_p.T51M|TLR10_uc021xnm.1_Missense_Mutation_p.T51M	p.T51M	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN			3	790	-			51					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.152C>T	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048086	0.19827	0.0	1.16E-4	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334;ENST00000502321	T;T;T;T;T	0.58797	1.71;1.71;1.71;1.71;0.31	5.23	3.51	0.40186	.	0.455228	0.17294	N	0.179512	T	0.70988	0.3287	M	0.74647	2.275	0.09310	N	1	D	0.76494	0.999	D	0.69307	0.963	T	0.60707	-0.7210	10	0.87932	D	0	.	7.5347	0.27704	0.1382:0.0:0.7183:0.1435	.	51	Q9BXR5	TLR10_HUMAN	M	51;51;51;51;37	ENSP00000308925:T51M;ENSP00000421483:T51M;ENSP00000354459:T51M;ENSP00000424923:T51M;ENSP00000427606:T37M	ENSP00000308925:T51M	T	-	2	0	TLR10	38453455	0.009000	0.17119	0.091000	0.20842	0.332000	0.28634	0.164000	0.16542	0.599000	0.29845	0.655000	0.94253	ACG		0.448	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			A	38777060	G	A	38777060	3	1	130	1	0	0	0	0	1	0	0	0	15947	1145	40	1	2287	1	TLR10	4	38777060	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	37781553	38777060	152377216	26	8864											
CCDC158	339965	broad.mit.edu	37	chr4	77304876	77304876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattcagatttcagtgcttCaagttgatcctctacctggt	8	16	8	9	0	4	3	3	2	1	1	5	3	5	3	2	1	2	2	2	1	2	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:77304876C>T	ENST00000388914.3	-	6	894	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CCDC158_ENST00000434846.2_Missense_Mutation_p.E248K	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	248										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCAGTGCTTCAAGTTGATCC	0.368																																						uc003hkb.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(742-744)Gaa>Aaa		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.							236	202	213					4																	77304876		1836	4085	5921	SO:0001583	missense	339965							g.chr4:77304876C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.742G>A	4.37:g.77304876C>T	ENSP00000373566:p.Glu248Lys					CCDC158_uc003hkd.3_Missense_Mutation_p.E248K	p.E248K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			5	895	-			248					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.742G>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928541	0.92389	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.33654	1.45;1.4	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000015	T	0.41604	0.1166	N	0.24115	0.695	0.37485	D	0.916137	D;D	0.63880	0.993;0.986	P;P	0.60789	0.879;0.84	T	0.24154	-1.0168	10	0.23891	T	0.37	.	15.5119	0.75789	0.0:1.0:0.0:0.0	.	248;248	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	K	248	ENSP00000373566:E248K;ENSP00000401742:E248K	ENSP00000316815:E248K	E	-	1	0	CCDC158	77523900	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.284000	0.51708	2.742000	0.94016	0.650000	0.86243	GAA		0.368	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		T	77304876	C	T	77304876	3	4	130	1	0	0	0	0	1	0	0	0	2790	835	29	3	2675	3	CCDC158	4	77304876	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	38527816	77304876	113849400	27	8865											
SPARCL1	8404	broad.mit.edu	37	chr4	88420673	88420673	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaaaggaaatttacCgggattgcagctgcagttcc	14	8	11	8	1	0	2	0	0	0	2	1	4	1	4	2	2	4	4	2	2	4	4	rs11557440		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:88420673C>T	ENST00000282470.6	-	2	524	c.54G>A	c.(52-54)ccG>ccA	p.P18P	SPARCL1_ENST00000418378.1_Splice_Site_p.P18P|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	18					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGAAATTTACCGGGATTGCAG	0.363																																						uc010ikm.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.e3+1		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							97	105	102					4																	88420673		2203	4300	6503	SO:0001630	splice_region_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88420673C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.54+1G>A	4.37:g.88420673C>T						SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Splice_Site_p.P18_splice|SPARCL1_uc011cdd.2_Splice_Site	p.P18_splice	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	3	626	-			18					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.54_splice	CCDS3622.1																																																																																				0.363	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		Silent	T	88420673	C	T	88420673	5	4	130	1	0	0	0	0	0	0	1	0	14995	666	23	2	1980	2	SPARCL1	4	88420673	Splice_Site	SNP	C	TCGA-14-0789-01A-01W-0424-08	11115797	88420673	102733603	28	8866											
FGA	2243	broad.mit.edu	37	chr4	155507297	155507297	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaccagtttttctgtgtgGtactctctccttgtccctgg	3	17	10	11	0	2	1	0	1	2	0	5	1	4	1	3	2	1	2	3	2	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:155507297G>T	ENST00000302053.3	-	5	1362	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	FGA_ENST00000403106.3_Nonsense_Mutation_p.Y428*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	428					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTCTGTGTGGTACTCTCTCC	0.512																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1282-1284)taC>taA		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						184	190	188					4																	155507297		2203	4300	6503	SO:0001587	stop_gained	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507297G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1284C>A	4.37:g.155507297G>T	ENSP00000306361:p.Tyr428*					FGA_uc003ioe.1_Nonsense_Mutation_p.Y428*|FGA_uc003iof.1_Intron	p.Y428*	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	1342	-	all_hematologic(180;0.215)	Renal(120;0.0458)	428					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Nonsense_Mutation	SNP	ENST00000302053.3	37	c.1284C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961218	0.74016	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	.	.	.	5.89	2.19	0.27852	.	54.872900	0.00166	N	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9346	0.19158	0.2182:0.1401:0.6418:0.0	.	.	.	.	X	428	.	ENSP00000306361:Y428X	Y	-	3	2	FGA	155726747	0.577000	0.26708	0.007000	0.13788	0.404000	0.30871	0.582000	0.23834	0.096000	0.17463	0.655000	0.94253	TAC		0.512	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155507297	G	T	155507297	4	4	130	1	0	0	0	0	0	1	0	0	5830	1256	44	5	1368	5	FGA	4	155507297	Nonsense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	67086624	155507297	35646979	29	8867											
THBS4	7060	broad.mit.edu	37	chr5	79378941	79378941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagagtttcaaacccagAatttcgaccgcttcgataat	13	11	6	11	3	1	2	1	0	0	2	4	4	2	2	3	0	1	2	3	0	4	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:79378941A>G	ENST00000350881.2	+	22	3053	c.2863A>G	c.(2863-2865)Aat>Gat	p.N955D	THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.N864D|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	955					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCAAACCCAGAATTTCGACCG	0.453											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021yaw.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2863-2865)Aat>Gat		Homo sapiens thrombospondin 4 (THBS4), mRNA.							90	99	96					5																	79378941		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79378941A>G		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2863A>G	5.37:g.79378941A>G	ENSP00000339730:p.Asn955Asp		OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1190	BC047373_uc003kgi.4_Intron	p.N955D	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	21	3054	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	955					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2863A>G	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356531	0.61293	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.86164	-1.95;-2.08	5.91	0.22	0.15279	.	0.360182	0.34652	N	0.003798	T	0.76630	0.4014	L	0.32530	0.975	0.25020	N	0.991348	B	0.02656	0.0	B	0.01281	0.0	T	0.58951	-0.7545	10	0.18276	T	0.48	-7.5648	10.4245	0.44369	0.3282:0.5972:0.0746:0.0	.	955	P35443	TSP4_HUMAN	D	955;864	ENSP00000339730:N955D;ENSP00000422298:N864D	ENSP00000339730:N955D	N	+	1	0	THBS4	79414697	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.972000	0.40540	0.095000	0.17434	0.533000	0.62120	AAT		0.453	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			G	79378941	A	G	79378941	3	3	130	1	0	0	0	0	1	0	0	0	15853	246	9	4	2949	4	THBS4	5	79378941	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08		79378941	101536319	30	8868											
HARS	3035	broad.mit.edu	37	chr5	140053903	140053903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccacaaggtcttctcttCggacatccacctggccagga	8	9	8	16	1	2	0	0	0	2	0	6	2	4	2	5	4	0	0	5	4	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140053903C>T	ENST00000504156.1	-	13	2188	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	HARS_ENST00000431330.2_Missense_Mutation_p.R376Q|HARS_ENST00000307633.3_Missense_Mutation_p.R430Q|HARS_ENST00000415192.2_Missense_Mutation_p.R416Q|HARS_ENST00000504366.1_Missense_Mutation_p.R421Q|HARS_ENST00000448240.1_Missense_Mutation_p.R295Q|DND1_ENST00000542735.1_5'Flank|HARS_ENST00000457527.2_Missense_Mutation_p.R470Q|HARS_ENST00000438307.2_Missense_Mutation_p.R450Q	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	490					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTCTTCTCTTCGGACATCCAC	0.522																																						uc003lgv.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1468-1470)cGa>cAa		Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	L-Histidine(DB00117)						126	113	117					5																	140053903		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140053903C>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1469G>A	5.37:g.140053903C>T	ENSP00000425634:p.Arg490Gln					DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_Missense_Mutation_p.R421Q|HARS_uc011czm.2_Missense_Mutation_p.R450Q|HARS_uc003lgw.3_Missense_Mutation_p.R470Q|HARS_uc011czn.2_Missense_Mutation_p.R430Q|HARS_uc011czo.2_Missense_Mutation_p.R416Q|HARS_uc011czp.2_Missense_Mutation_p.R376Q	p.R490Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1551	-			490					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1469G>A	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476790	0.44044	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	4.93	3.1	0.35709	Anticodon-binding (3);	0.368895	0.28230	N	0.016109	T	0.73273	0.3566	L	0.49126	1.545	0.33673	D	0.611119	B;B;B;B;B;B	0.31655	0.334;0.11;0.0;0.039;0.039;0.01	B;B;B;B;B;B	0.17979	0.02;0.02;0.001;0.016;0.01;0.003	T	0.76293	-0.3012	10	0.40728	T	0.16	-2.4407	8.3997	0.32579	0.0:0.759:0.1569:0.0842	.	376;416;430;450;470;490	B4E1C5;B4DDD8;B4DHQ1;B4DY73;D6REN6;P12081	.;.;.;.;.;SYHC_HUMAN	Q	490;470;376;421;430;295;450;416	ENSP00000425634:R490Q;ENSP00000387893:R470Q;ENSP00000393244:R376Q;ENSP00000430063:R421Q;ENSP00000304668:R430Q;ENSP00000413605:R295Q;ENSP00000411511:R450Q;ENSP00000411085:R416Q	ENSP00000304668:R430Q	R	-	2	0	HARS	140034087	0.923000	0.31300	1.000000	0.80357	0.992000	0.81027	1.108000	0.31123	1.183000	0.42943	0.655000	0.94253	CGA		0.522	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		T	140053903	C	T	140053903	3	4	130	1	0	0	0	0	1	0	0	0	6959	884	31	2	64	2	HARS	5	140053903	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	60674962	140053903	40861357	31	8869											
PCDHA2	56146	broad.mit.edu	37	chr5	140174750	140174750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgttccgggtggcGtccaaaagacacggggacct	7	6	14	14	5	0	1	0	0	0	1	2	2	2	2	5	4	0	1	5	4	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140174750G>A	ENST00000526136.1	+	1	201	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHA2_ENST00000378132.1_Silent_p.A67A|PCDHA2_ENST00000520672.2_Silent_p.A67A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.647																																						uc003lhd.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(199-201)gcG>gcA		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							55	67	63					5																	140174750		2202	4295	6497	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140174750G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.201G>A	5.37:g.140174750G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A67A|PCDHAC2_uc011czy.2_Silent_p.A67A	p.A67A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	307	+			85			Cadherin 1.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.201G>A	CCDS54914.1																																																																																				0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140174750	G	A	140174750	2	1	130	1	0	0	0	0	0	0	0	1	11524	1132	40	1		1	PCDHA2	5	140174750	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	120847	140174750	40740510	32	8870											
PCDHB4	56131	broad.mit.edu	37	chr5	140503471	140503471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccgccaggctgctgagcGagcgcgacgcagccaagcac	9	2	14	16	5	0	1	0	1	0	0	0	3	0	1	3	1	5	5	3	1	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140503471G>A	ENST00000194152.1	+	1	1891	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.687																																						uc003lip.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1891-1893)Gag>Aag		Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.							29	29	29					5																	140503471		1916	3870	5786	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503471G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1891G>A	5.37:g.140503471G>A	ENSP00000194152:p.Glu631Lys						p.E631K	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1891	+			631			Cadherin 6.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1891G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823524	0.90873	.	.	ENSG00000081818	ENST00000194152	T	0.50813	0.73	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70675	0.3251	M	0.86028	2.79	0.51233	D	0.999918	D	0.69078	0.997	D	0.67548	0.952	T	0.77960	-0.2391	9	0.87932	D	0	.	16.5901	0.84763	0.0:0.0:1.0:0.0	.	631	Q9Y5E5	PCDB4_HUMAN	K	631	ENSP00000194152:E631K	ENSP00000194152:E631K	E	+	1	0	PCDHB4	140483655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.164000	0.64954	2.307000	0.77673	0.485000	0.47835	GAG		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503471	G	A	140503471	3	1	130	1	0	0	0	0	1	0	0	0	11544	1059	37	2	1893	2	PCDHB4	5	140503471	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	328721	140503471	40411789	33	8871											
PRRT1	80863	broad.mit.edu	37	chr6	32118160	32118160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccgtgcccaccgggtaGaccggcacgtaagcagtgca	9	5	12	15	4	1	1	1	0	0	1	1	1	1	1	4	2	3	5	4	2	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:32118160G>A	ENST00000211413.5	-	2	667	c.543C>T	c.(541-543)gtC>gtT	p.V181V	PRRT1_ENST00000375150.2_Silent_p.V100V|PRRT1_ENST00000375152.2_Silent_p.V100V|PRRT1_ENST00000467780.1_5'Flank	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	181					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CCACCGGGTAGACCGGCACGT	0.667																																						uc003nzu.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(220-222)Cta>Tta		Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.							34	35	35					6																	32118160		1508	2707	4215	SO:0001819	synonymous_variant	80863				response to biotic stimulus	integral to membrane		g.chr6:32118160G>A	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.543C>T	6.37:g.32118160G>A						PRRT1_uc003nzs.3_Silent_p.V222V|PRRT1_uc003nzt.3_Silent_p.V181V	p.L74L			Q99946	PRRT1_HUMAN			3	485	-			182					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	ENST00000211413.5	37	c.220C>T	CCDS4739.1																																																																																				0.667	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		A	32118160	G	A	32118160	2	1	130	1	0	0	0	0	0	0	0	1	12609	929	33	3		3	PRRT1	6	32118160	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08		32118160	138996907	34	8872											
ITPR3	3710	broad.mit.edu	37	chr6	33633622	33633622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccaggtttgtcatcCagctgctggaagacctggtg	7	10	11	13	0	2	1	2	0	0	1	3	2	3	2	4	3	2	3	4	3	1	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:33633622C>T	ENST00000374316.5	+	15	2480	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.Q474*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	474					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GTTTGTCATCCAGCTGCTGGA	0.572																																						uc021ywr.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1420-1422)Cag>Tag		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.							137	103	114					6																	33633622		2203	4300	6503	SO:0001587	stop_gained	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33633622C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1420C>T	6.37:g.33633622C>T	ENSP00000363435:p.Gln474*						p.Q474*	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			13	1644	+			474					Q14649|Q5TAQ2	Nonsense_Mutation	SNP	ENST00000374316.5	37	c.1420C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	46	12.684424	0.99688	.	.	ENSG00000096433	ENST00000374316	.	.	.	5.4	5.4	0.78164	.	0.058885	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.2065	14.0635	0.64815	0.1507:0.8493:0.0:0.0	.	.	.	.	X	474	.	ENSP00000363435:Q474X	Q	+	1	0	ITPR3	33741600	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.378000	0.73150	2.539000	0.85634	0.563000	0.77884	CAG		0.572	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33633622	C	T	33633622	4	4	130	1	0	0	0	0	0	1	0	0	7922	595	21	3	1474	3	ITPR3	6	33633622	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	1515462	33633622	137481445	35	8873											
VEGFA	7422	broad.mit.edu	37	chr6	43748479	43748479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattttccagaaaatcagttCgaggaaagggaaaggggcaa	16	8	12	5	1	1	1	1	0	0	1	3	4	2	3	1	4	0	2	1	4	6	4	rs45533131		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:43748479C>T	ENST00000523873.1	+	6	471	c.433C>T	c.(433-435)Cga>Tga	p.R145*	VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R325*|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R325*|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R145*|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000425836.2_Nonsense_Mutation_p.R325*|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R145*			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	145					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)	p.R325*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	AAAATCAGTTCGAGGAAAGGG	0.532																																						uc003owh.3																			1	Substitution - Nonsense(1)	p.R325*(2)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(973-975)Cga>Tga		Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						89	90	90					6																	43748479		2203	4300	6503	SO:0001587	stop_gained	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43748479C>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.433C>T	6.37:g.43748479C>T	ENSP00000430479:p.Arg145*					VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owg.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Nonsense_Mutation_p.R324*|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	p.R325*	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		5	1471	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		145					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Nonsense_Mutation	SNP	ENST00000523873.1	37	c.973C>T	CCDS55010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.542237|6.542237	0.97650|0.97650	.|.	.|.	ENSG00000112715|ENSG00000112715	ENST00000413642;ENST00000372055;ENST00000425836;ENST00000520948;ENST00000523873;ENST00000518689|ENST00000519767	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	4.362100|.	0.00520|.	N|.	0.000187|.	.|T	.|0.66886	.|0.2835	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66384	.|-0.5937	.|4	0.02654|.	T|.	1|.	-0.4131|-0.4131	17.3086|17.3086	0.87202|0.87202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs45533131|rs45533131	.|.	.|.	.|.	X|L	325;325;325;145;145;145|296	.|.	ENSP00000361125:R325X|.	R|S	+|+	1|2	2|0	VEGFA|VEGFA	43856457|43856457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.970000|2.970000	0.49240|0.49240	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.532	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		T	43748479	C	T	43748479	4	4	130	1	0	0	0	0	0	1	0	0	17147	876	31	2	995	2	VEGFA	6	43748479	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	10114857	43748479	127366588	36	8874											
GPRC6A	222545	broad.mit.edu	37	chr6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattttcttcagtgtcCgattgattctgacttcaatg	10	17	7	7	1	4	3	2	3	2	0	5	4	5	3	1	0	0	0	1	0	2	6	rs368860950		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:117128089C>T	ENST00000310357.3	-	3	800	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R260Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R260Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	260					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363																																						uc003pxj.1																			0		p.R260W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(778-780)cGg>cAg		Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86	90	89		779	3.8	1	6		89	0,8598		0,0,4299	no	missense	GPRC6A	NM_148963.2	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	260/927	117128089	1,13003	2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128089C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.779G>A	6.37:g.117128089C>T	ENSP00000309493:p.Arg260Gln					GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q	p.R260Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	801	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	260					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.779G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365791	0.01235	2.27E-4	0.0	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.90955	-1.7;-1.7;-2.76	6.17	3.8	0.43715	Extracellular ligand-binding receptor (1);	0.455997	0.19029	N	0.124602	T	0.56470	0.1987	N	0.08118	0	0.21386	N	0.999708	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.48833	-0.9000	10	0.02654	T	1	.	9.6458	0.39865	0.0:0.2101:0.0:0.7899	.	260;260;260	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	Q	260	ENSP00000309493:R260Q;ENSP00000357537:R260Q;ENSP00000433465:R260Q	ENSP00000309493:R260Q	R	-	2	0	GPRC6A	117234782	0.069000	0.21087	1.000000	0.80357	0.119000	0.20118	0.478000	0.22212	0.559000	0.29153	-0.294000	0.09567	CGG		0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			T	117128089	C	T	117128089	3	4	130	1	0	0	0	0	1	0	0	0	6728	652	23	2	2017	2	GPRC6A	6	117128089	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	73379610	117128089	53986978	37	8875											
LPA	4018	broad.mit.edu	37	chr6	161020531	161020531	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaagaacaaagacgtaCgcatttgggtagttttctgg	12	12	12	5	2	1	2	0	0	1	2	1	2	1	2	0	3	2	5	0	3	6	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:161020531C>T	ENST00000316300.5	-	20	3332		c.e20+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483																																						uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e21+1		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)						287	311	303					6																	161020531		2200	4299	6499	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020531C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3287+1G>A	6.37:g.161020531C>T							p.A1096_splice	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3407	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3604			Kringle 10.		Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37	c.3287_splice	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446431	0.25987	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4117	0.32646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160940521	1.000000	0.71417	0.930000	0.37139	0.007000	0.05969	3.793000	0.55484	1.361000	0.45981	0.436000	0.28706	.		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Intron	T	161020531	C	T	161020531	5	4	130	1	0	0	0	0	0	0	1	0	8903	550	19	1	2914	1	LPA	6	161020531	Splice_Site	SNP	C	TCGA-14-0789-01A-01W-0424-08	43892442	161020531	10094536	38	8876											
EGFR	1956	broad.mit.edu	37	chr7	55238870	55238870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcacttcctacagatGcactgggccaggtcttgaag	8	12	9	12	0	3	2	1	1	2	1	4	2	4	2	2	2	2	1	2	2	2	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:55238870G>A	ENST00000275493.2	+	16	2060	c.1883G>A	c.(1882-1884)tGc>tAc	p.C628Y	EGFR_ENST00000455089.1_Missense_Mutation_p.C583Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C575Y|EGFR_ENST00000442591.1_Missense_Mutation_p.C628Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	628					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCCTACAGATGCACTGGGCCA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1882-1884)tGc>tAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						134	119	124					7																	55238870		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55238870G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1883G>A	7.37:g.55238870G>A	ENSP00000275493:p.Cys628Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.C628Y|EGFR_uc010kzg.2_Missense_Mutation_p.C583Y|EGFR_uc022adn.1_Missense_Mutation_p.C583Y|EGFR_uc011kco.2_Missense_Mutation_p.C575Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	p.C628Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2129	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		628					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1883G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070678	0.55539	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.54	5.54	0.83059	Growth factor, receptor (1);	0.087063	0.85682	D	0.000000	T	0.82245	0.4995	H	0.97635	4.045	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.73708	0.765;0.981	D	0.88094	0.2815	10	0.87932	D	0	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	583;628	Q504U8;P00533	.;EGFR_HUMAN	Y	583;498;628;628;575;422	ENSP00000415559:C583Y;ENSP00000275493:C628Y;ENSP00000410031:C628Y;ENSP00000395243:C575Y	ENSP00000275493:C628Y	C	+	2	0	EGFR	55206364	1.000000	0.71417	0.970000	0.41538	0.066000	0.16364	7.285000	0.78660	2.768000	0.95171	0.561000	0.74099	TGC		0.393	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55238870	G	A	55238870	3	1	130	1	0	0	0	0	1	0	0	0	4967	1319	46	3	2209	3	EGFR	7	55238870	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		55238870	103899793	39	8877											
CALN1	83698	broad.mit.edu	37	chr7	71252851	71252851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcatatgaggctcttcCggacgcaggtctgtctgttc	6	11	13	11	3	3	1	0	1	3	0	5	2	4	2	1	4	0	4	1	4	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:71252851C>T	ENST00000329008.5	-	6	867	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CALN1_ENST00000395276.2_Missense_Mutation_p.R190Q|CALN1_ENST00000395275.2_Missense_Mutation_p.R232Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R190Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R232Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R190Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.R232Q(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGGCTCTTCCGGACGCAGGT	0.552																																						uc003twb.4																			2	Substitution - Missense(2)	p.R232Q(1)|p.R190Q(1)	endometrium(2)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(694-696)cGg>cAg		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.							125	98	107					7																	71252851		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252851C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.569G>A	7.37:g.71252851C>T	ENSP00000332498:p.Arg190Gln					CALN1_uc003twa.4_Missense_Mutation_p.R190Q|CALN1_uc003twc.4_Missense_Mutation_p.R190Q	p.R232Q	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1086	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	190					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.695G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	35	5.581376	0.96565	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74526	-0.69;-0.85;-0.69;-0.69;-0.85;-0.69	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	L	0.29908	0.895	0.50039	D	0.999846	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.82946	-0.0205	10	0.87932	D	0	-29.6416	17.5493	0.87872	0.0:1.0:0.0:0.0	.	190;190	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	190;232;190;190;232;190	ENSP00000332498:R190Q;ENSP00000378690:R232Q;ENSP00000378691:R190Q;ENSP00000410704:R190Q;ENSP00000391882:R232Q;ENSP00000384354:R190Q	ENSP00000332498:R190Q	R	-	2	0	CALN1	70890787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	CGG		0.552	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71252851	C	T	71252851	3	4	130	1	0	0	0	0	1	0	0	0	2591	652	23	2	94	2	CALN1	7	71252851	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	16013981	71252851	87885812	40	8878											
GRM3	2913	broad.mit.edu	37	chr7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcagtgataagtcgCgctatgattactttgccagg	11	11	9	10	2	1	2	1	2	0	0	2	2	1	2	2	1	3	1	2	1	4	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_ENST00000536043.1_Missense_Mutation_p.R55C|GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R183C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGATAAGTCGCGCTATGATTA	0.562																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			1	Substitution - Missense(1)	p.R183C(2)|p.S182L(1)	pancreas(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(547-549)Cgc>Tgc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						134	129	131					7																	86415655		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415655C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.547C>T	7.37:g.86415655C>T	ENSP00000355316:p.Arg183Cys					GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	p.R183C	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1646	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		183					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.547C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837511	0.91117	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.95413	0.8500	10	0.87932	D	0	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	55;183;183	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	183;55;55;183;181	ENSP00000355316:R183C;ENSP00000405427:R55C;ENSP00000441407:R55C;ENSP00000398767:R183C;ENSP00000378209:R181C	ENSP00000355316:R183C	R	+	1	0	GRM3	86253591	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.667000	0.61561	2.770000	0.95276	0.655000	0.94253	CGC		0.562	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86415655	C	T	86415655	3	4	130	1	0	0	0	0	1	0	0	0	6798	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15162804	86415655	72723008	41	8879											
ABCB4	5244	broad.mit.edu	37	chr7	87092144	87092144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaatactatcatcatgagGgggagacctgatccgtgagc	12	8	11	10	1	2	4	2	3	0	1	3	5	3	4	3	2	2	0	3	2	3	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:87092144G>T	ENST00000265723.4	-	4	327	c.216C>A	c.(214-216)ccC>ccA	p.P72P	ABCB4_ENST00000545634.1_Silent_p.P72P|ABCB4_ENST00000358400.3_Silent_p.P72P|ABCB4_ENST00000359206.3_Silent_p.P72P|ABCB4_ENST00000453593.1_Silent_p.P72P	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	72	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCATCATGAGGGGGAGACCTG	0.383																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(214-216)ccC>ccA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							97	88	91					7																	87092144		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87092144G>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.216C>A	7.37:g.87092144G>T						ABCB4_uc003uiw.1_Silent_p.P72P|ABCB4_uc003uix.1_Silent_p.P72P|ABCB4_uc003uiy.3_Silent_p.P72P	p.P72P	NM_018849	NP_061337	P21439	MDR3_HUMAN			3	292	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		72	IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542).		ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.216C>A	CCDS5606.1																																																																																				0.383	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87092144	G	T	87092144	2	4	130	1	0	0	0	0	0	0	0	1	43	1219	43	5		5	ABCB4	7	87092144	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	676489	87092144	72046519	42	8880											
AZGP1	563	broad.mit.edu	37	chr7	99569626	99569626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatataggtcagagagtaaCgacctgcaaaagaaaagatt	19	7	10	5	1	1	4	1	0	0	4	1	6	1	4	1	1	2	2	1	1	7	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:99569626C>T	ENST00000292401.4	-	2	216	c.80G>A	c.(79-81)cGt>cAt	p.R27H	AZGP1_ENST00000411734.1_Missense_Mutation_p.R24H	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	27					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGAGAGTAACGACCTGCAAA	0.527																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(79-81)cGt>cAt		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							59	58	58					7																	99569626		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569626C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.80G>A	7.37:g.99569626C>T	ENSP00000292401:p.Arg27His						p.R27H	NM_001185	NP_001176	P25311	ZA2G_HUMAN			1	172	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		27					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.80G>A	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328062	0.24080	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.89050	-2.46;-2.46	1.51	-2.22	0.06952	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);	2.353210	0.02490	U	0.089339	T	0.72162	0.3426	N	0.02011	-0.69	0.22468	N	0.999077	B	0.06786	0.001	B	0.01281	0.0	T	0.63492	-0.6625	10	0.87932	D	0	.	3.7112	0.08420	0.0:0.2498:0.305:0.4452	.	27	P25311	ZA2G_HUMAN	H	27;24	ENSP00000292401:R27H;ENSP00000396093:R24H	ENSP00000292401:R27H	R	-	2	0	AZGP1	99407562	0.008000	0.16893	0.130000	0.21974	0.365000	0.29674	-0.562000	0.05950	-0.713000	0.04981	-0.643000	0.03959	CGT		0.527	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		T	99569626	C	T	99569626	3	4	130	1	0	0	0	0	1	0	0	0	1239	536	19	1	828	1	AZGP1	7	99569626	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	12477482	99569626	59569037	43	8881											
ASB15	142685	broad.mit.edu	37	chr7	123269046	123269046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattgaaaatggttttgAtgtcaacactctacttgctg	10	15	8	8	0	3	2	2	2	1	0	3	2	3	2	0	1	3	3	0	1	4	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:123269046A>G	ENST00000451558.1	+	12	1519	c.998A>G	c.(997-999)gAt>gGt	p.D333G	ASB15_ENST00000275699.3_Missense_Mutation_p.D333G|ASB15_ENST00000540573.1_Missense_Mutation_p.D333G|ASB15_ENST00000451215.1_Missense_Mutation_p.D333G|ASB15_ENST00000434204.1_Missense_Mutation_p.D333G			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	333					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATGGTTTTGATGTCAACACT	0.418																																						uc003vku.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(997-999)gAt>gGt		Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.							178	164	169					7																	123269046		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269046A>G	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.998A>G	7.37:g.123269046A>G	ENSP00000397655:p.Asp333Gly					ASB15_uc003vkw.1_Missense_Mutation_p.D333G	p.D333G	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			9	1290	+			333					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.998A>G	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514201	0.85389	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84556	0.0647	10	0.87932	D	0	-8.7552	16.8222	0.85835	1.0:0.0:0.0:0.0	.	333	Q8WXK1	ASB15_HUMAN	G	333;333;333;333;122;333	ENSP00000397655:D333G;ENSP00000390963:D333G;ENSP00000416433:D333G;ENSP00000438643:D333G;ENSP00000275699:D333G	ENSP00000275699:D333G	D	+	2	0	ASB15	123056282	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.948000	0.93006	2.371000	0.80710	0.533000	0.62120	GAT		0.418	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			G	123269046	A	G	123269046	3	3	130	1	0	0	0	0	1	0	0	0	1019	333	12	4	1024	4	ASB15	7	123269046	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08	23699420	123269046	35869617	44	8882											
ALDH1A1	216	broad.mit.edu	37	chr9	75567900	75567900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggacaggtaagtctggcGtgcctgaggatgacatttct	9	11	14	7	1	2	2	0	2	2	0	2	4	2	4	1	4	1	2	1	4	2	3	rs144704960	byFrequency	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:75567900G>A	ENST00000297785.3	-	1	71	c.17C>T	c.(16-18)aCg>aTg	p.T6M	ALDH1A1_ENST00000482210.1_5'Flank|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.T6M	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	6					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TAAGTCTGGCGTGCCTGAGGA	0.418													G|||	2	0.000399361	0.0015	0	5008	,	,		17707	0		0	False		,,,				2504	0					uc004ajd.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(16-18)aCg>aTg		Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	117	106	110		17	-9.5	0	9	dbSNP_134	110	0,8598		0,0,4299	yes	missense	ALDH1A1	NM_000689.4	81	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	6/502	75567900	4,13000	2203	4299	6502	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75567900G>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.17C>T	9.37:g.75567900G>A	ENSP00000297785:p.Thr6Met					ALDH1A1_uc011lsh.2_Intron	p.T6M	NM_000689	NP_000680	P00352	AL1A1_HUMAN			0	334	-			6					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.17C>T	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	G	4.881	0.163741	0.09287	9.08E-4	0.0	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.76186	-1.0;-0.36;-0.28;-0.01	5.85	-9.48	0.00591	Aldehyde/histidinol dehydrogenase (1);	2.404540	0.01028	N	0.004092	T	0.42720	0.1215	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28235	-1.0050	10	0.25751	T	0.34	.	3.0939	0.06303	0.3042:0.0778:0.1222:0.4958	.	6	P00352	AL1A1_HUMAN	M	6;6;20;6;6	ENSP00000297785:T6M;ENSP00000366138:T6M;ENSP00000388026:T6M;ENSP00000401361:T6M	ENSP00000297785:T6M	T	-	2	0	ALDH1A1	74757720	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.985000	0.03751	-0.924000	0.03780	-1.252000	0.01501	ACG		0.418	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			A	75567900	G	A	75567900	3	1	130	1	0	0	0	0	1	0	0	0	490	1145	40	1	1540	1	ALDH1A1	9	75567900	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		75567900	65645531	45	8883											
OLFML2A	169611	broad.mit.edu	37	chr9	127566377	127566377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttctctctgcagacaaCaccctccagggcacttcctg	7	10	8	16	0	3	1	0	0	3	1	6	1	5	1	3	2	2	2	3	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:127566377C>T	ENST00000373580.3	+	6	924	c.924C>T	c.(922-924)aaC>aaT	p.N308N	OLFML2A_ENST00000288815.5_Silent_p.N94N	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	308					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTGCAGACAACACCCTCCAGG	0.637																																						uc004bov.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(922-924)aaC>aaT		Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.							40	40	40					9																	127566377		2203	4300	6503	SO:0001819	synonymous_variant	169611							g.chr9:127566377C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.924C>T	9.37:g.127566377C>T						OLFML2A_uc010mwr.1_Silent_p.N272N|OLFML2A_uc004bow.3_Silent_p.N94N	p.N308N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN			5	1037	+			308					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.924C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	0.531	-0.857784	0.02630	.	.	ENSG00000185585	ENST00000342100	.	.	.	4.97	-4.5	0.03493	.	.	.	.	.	T	0.48466	0.1501	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.55768	-0.8089	5	0.87932	D	0	.	11.979	0.53109	0.0:0.3197:0.0:0.6803	.	.	.	.	I	2	.	ENSP00000339766:T2I	T	+	2	0	OLFML2A	126606198	0.000000	0.05858	0.053000	0.19242	0.160000	0.22226	-2.260000	0.01177	-1.380000	0.02115	-1.202000	0.01658	ACA		0.637	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		T	127566377	C	T	127566377	2	4	130	1	0	0	0	0	0	0	0	1	10857	477	17	3		3	OLFML2A	9	127566377	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	51998477	127566377	13647054	46	8884											
DBH	1621	broad.mit.edu	37	chr9	136507481	136507481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctcagacgcgtgcacCatggaggtccaagctcccaa	9	7	10	15	2	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:136507481C>T	ENST00000393056.2	+	3	651	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	213					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	ACGCGTGCACCATGGAGGTCC	0.592																																						uc004cel.3																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(637-639)acC>acT		Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	Dopamine(DB00988)|Vitamin C(DB00126)						70	64	66					9																	136507481		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507481C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.639C>T	9.37:g.136507481C>T							p.T213T	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	2	648	+			213					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.639C>T	CCDS6977.2																																																																																				0.592	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136507481	C	T	136507481	2	4	130	1	0	0	0	0	0	0	0	1	4250	581	21	3		3	DBH	9	136507481	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	8941104	136507481	4705950	47	8885											
OR52D1	390066	broad.mit.edu	37	chr11	5510222	5510222	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatgctggtgagattTcctttggtggatgcctggcc	4	13	14	10	0	0	1	0	1	0	1	2	3	2	2	4	5	2	2	4	5	0	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:5510222T>A	ENST00000322641.5	+	1	308	c.286T>A	c.(286-288)Tcc>Acc	p.S96T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGATTTCCTTTGGTGG	0.498																																						uc010qzg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(286-288)Tcc>Acc		Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.							142	124	130					11																	5510222		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510222T>A	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.286T>A	11.37:g.5510222T>A	ENSP00000326232:p.Ser96Thr					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.S96T	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	308	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	96					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.286T>A	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610996	0.28712	.	.	ENSG00000181609	ENST00000322641	T	0.00724	5.78	5.57	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.092462	0.48286	D	0.000193	T	0.01029	0.0034	M	0.62266	1.93	0.27290	N	0.957853	B	0.13594	0.008	B	0.19666	0.026	T	0.41787	-0.9489	10	0.30078	T	0.28	.	4.943	0.13975	0.2419:0.0807:0.0:0.6775	.	96	Q9H346	O52D1_HUMAN	T	96	ENSP00000326232:S96T	ENSP00000326232:S96T	S	+	1	0	OR52D1	5466798	0.000000	0.05858	1.000000	0.80357	0.869000	0.49853	-0.155000	0.10115	2.340000	0.79590	0.528000	0.53228	TCC		0.498	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		A	5510222	T	A	5510222	3	1	130	1	0	0	0	0	1	0	0	0	11114	1783	62	5	288	5	OR52D1	11	5510222	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08		5510222	129496294	48	8886											
PRMT3	10196	broad.mit.edu	37	chr11	20448405	20448405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgttatcatatctgaGtggatggtgagtgtttatag	10	16	13	2	0	2	3	1	2	1	1	2	4	2	4	0	2	0	3	0	2	5	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:20448405G>A	ENST00000331079.6	+	10	1204	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRMT3_ENST00000437750.2_Silent_p.E267E	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	329	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TCATATCTGAGTGGATGGTGA	0.254																																						uc001mqb.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(985-987)gaG>gaA		Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.							55	60	58					11																	20448405		2184	4281	6465	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20448405G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.987G>A	11.37:g.20448405G>A						PRMT3_uc001mqc.3_Silent_p.E252E|PRMT3_uc010rdn.2_Silent_p.E267E	p.E329E	NM_005788	NP_005779	O60678	ANM3_HUMAN			9	1204	+			329					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.987G>A	CCDS7853.1																																																																																				0.254	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		A	20448405	G	A	20448405	2	1	130	1	0	0	0	0	0	0	0	1	12538	1020	36	3		3	PRMT3	11	20448405	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	14938183	20448405	114558111	49	8887											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985881	117985881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatactgctgcaggcGtcagtccaggtcattgacag	9	10	11	11	1	3	2	2	2	1	0	4	2	4	2	1	2	3	2	1	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:117985881G>A	ENST00000437212.3	+	11	1252	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_ENST00000518413.2_Intron|TMPRSS4_ENST00000534111.1_Silent_p.A344A|TMPRSS4_ENST00000522307.1_Silent_p.A199A|TMPRSS4_ENST00000523251.1_Silent_p.A306A|TMPRSS4_ENST00000522824.1_Silent_p.A341A			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552																																						uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(1036-1038)gcG>gcA		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.							90	70	77					11																	117985881		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117985881G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1038G>A	11.37:g.117985881G>A						TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	p.A346A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	10	1329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	346			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.1038G>A	CCDS31684.1																																																																																				0.552	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		A	117985881	G	A	117985881	2	1	130	1	0	0	0	0	0	0	0	1	16246	1132	40	1		1	TMPRSS4	11	117985881	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	97537476	117985881	17020635	50	8888											
TECTA	7007	broad.mit.edu	37	chr11	120998873	120998873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttgacggcgcctcctaCgccttcccctccgagttctc	4	11	7	19	4	1	1	0	1	1	0	5	2	4	1	7	1	1	1	7	1	1	4	rs529258973		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:120998873C>T	ENST00000392793.1	+	9	2458	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y	TECTA_ENST00000264037.2_Silent_p.Y729Y			O75443	TECTA_HUMAN	tectorin alpha	729	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y729Y(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGCCTCCTACGCCTTCCCCT	0.622													C|||	1	0.000199681	0	0	5008	,	,		17915	0		0	False		,,,				2504	0.001					uc010rzo.2																		TECTA/TBCEL(2)	1	Substitution - coding silent(1)	p.Y729Y(2)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2185-2187)taC>taT		Homo sapiens tectorin alpha (TECTA), mRNA.							99	87	91					11																	120998873		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998873C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2187C>T	11.37:g.120998873C>T							p.Y729Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	2187	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	729			VWFD 2.			Silent	SNP	ENST00000392793.1	37	c.2187C>T	CCDS8434.1																																																																																				0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	120998873	C	T	120998873	2	4	130	1	0	0	0	0	0	0	0	1	15744	547	19	1		1	TECTA	11	120998873	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	3012992	120998873	14007643	51	8889											
C12orf77	196415	broad.mit.edu	37	chr12	25148921	25148921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagttgcaggcatccatCgtatgctgtccagcgtctgc	7	10	12	12	2	1	0	0	0	1	0	4	1	3	1	2	2	4	5	2	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:25148921C>T	ENST00000549828.1	-	3	431	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C12orf77_ENST00000434912.3_Missense_Mutation_p.R21Q|C12orf77_ENST00000549262.1_Missense_Mutation_p.R21Q	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	76										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGCATCCATCGTATGCTGTC	0.502																																						uc001rgf.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(226-228)cGa>cAa		Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.							85	89	88					12																	25148921		1990	4158	6148	SO:0001583	missense	196415							g.chr12:25148921C>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.227G>A	12.37:g.25148921C>T	ENSP00000447146:p.Arg76Gln						p.R76Q	NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN			2	432	-			76						Missense_Mutation	SNP	ENST00000549828.1	37	c.227G>A	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	C	7.531	0.658723	0.14645	.	.	ENSG00000226397	ENST00000549828;ENST00000549262;ENST00000434912	T;T;T	0.56776	0.5;0.44;0.44	2.5	1.61	0.23674	.	.	.	.	.	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	P	0.38800	0.648	B	0.24155	0.051	T	0.11372	-1.0590	9	0.87932	D	0	.	5.4381	0.16492	0.0:0.8385:0.0:0.1615	.	76	C9JDV5	CL097_HUMAN	Q	76;21;21	ENSP00000447146:R76Q;ENSP00000447028:R21Q;ENSP00000403451:R21Q	ENSP00000403451:R21Q	R	-	2	0	C12orf77	25040188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.721000	0.04963	0.597000	0.29811	-0.137000	0.14449	CGA		0.502	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		T	25148921	C	T	25148921	3	4	130	1	0	0	0	0	1	0	0	0	1716	884	31	2	218	2	C12orf77	12	25148921	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		25148921	108702974	52	8890											
ACVRL1	94	broad.mit.edu	37	chr12	52309923	52309923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgaggtgctggacgagcaGatccgcacggactgctttga	8	7	14	12	4	0	2	0	1	0	1	1	6	1	4	2	3	3	4	2	3	0	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:52309923G>A	ENST00000388922.4	+	8	1435	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ACVRL1_ENST00000419526.2_Silent_p.Q210Q|ACVRL1_ENST00000550683.1_Silent_p.Q398Q	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGACGAGCAGATCCGCACGG	0.602																																						uc001rzj.3																			0		p.E383K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1150-1152)caG>caA		Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						105	89	95					12																	52309923		2203	4300	6503	SO:0001819	synonymous_variant	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309923G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1152G>A	12.37:g.52309923G>A						ACVRL1_uc001rzk.3_Silent_p.Q384Q|ACVRL1_uc010snm.2_Silent_p.Q210Q	p.Q384Q	NM_000020	NP_001070869	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	7	1435	+			384			Protein kinase.		A6NGA8	Silent	SNP	ENST00000388922.4	37	c.1152G>A	CCDS31804.1																																																																																				0.602	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			A	52309923	G	A	52309923	2	1	130	1	0	0	0	0	0	0	0	1	225	933	33	3		3	ACVRL1	12	52309923	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	27161002	52309923	81541972	53	8891											
ESPL1	9700	broad.mit.edu	37	chr12	53687195	53687195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaggcccgccaagctccCcgactcaagtatcttattgg	10	8	8	15	2	2	0	1	0	1	0	3	1	3	0	5	2	2	2	5	2	5	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:53687195C>T	ENST00000257934.4	+	31	6391	c.6300C>T	c.(6298-6300)ccC>ccT	p.P2100P	ESPL1_ENST00000552462.1_Silent_p.P2100P|PFDN5_ENST00000551018.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000550846.1_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2100					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGCTCCCCGACTCAAGT	0.567																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(6298-6300)ccC>ccT		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							65	66	65					12																	53687195		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53687195C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6300C>T	12.37:g.53687195C>T						ESPL1_uc001scj.2_Silent_p.P1775P|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	p.P2100P	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			30	6391	+			2100						Silent	SNP	ENST00000257934.4	37	c.6300C>T	CCDS8852.1																																																																																				0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53687195	C	T	53687195	2	4	130	1	0	0	0	0	0	0	0	1	5253	610	22	3		3	ESPL1	12	53687195	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	1377272	53687195	80164700	54	8892											
SRRM4	84530	broad.mit.edu	37	chr12	119568488	119568488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccatccccaggcaccGcggccggtcccctgaggaag	6	4	11	20	3	0	1	0	1	0	0	3	2	3	2	8	4	0	1	8	4	1	0	rs532719039		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:119568488G>A	ENST00000267260.4	+	8	1008	c.620G>A	c.(619-621)cGc>cAc	p.R207H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	207	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.R207H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGCACCGCGGCCGGTCC	0.622													G|||	1	0.000199681	0	0	5008	,	,		13812	0.001		0	False		,,,				2504	0					uc001txa.2																			1	Substitution - Missense(1)	p.R207H(2)|p.R207C(1)	ovary(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(619-621)cGc>cAc		Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.							15	18	17					12																	119568488		1876	4091	5967	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568488G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.620G>A	12.37:g.119568488G>A	ENSP00000267260:p.Arg207His						p.R207H	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			7	1008	+			207			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.620G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212125	0.58452	.	.	ENSG00000139767	ENST00000267260	T	0.27402	1.67	5.17	4.27	0.50696	.	0.412269	0.22551	N	0.058589	T	0.41328	0.1154	L	0.47716	1.5	0.34760	D	0.73263	D	0.69078	0.997	P	0.58391	0.838	T	0.53823	-0.8384	10	0.56958	D	0.05	-12.928	11.3983	0.49856	0.0856:0.0:0.9144:0.0	.	207	A7MD48	SRRM4_HUMAN	H	207	ENSP00000267260:R207H	ENSP00000267260:R207H	R	+	2	0	SRRM4	118052871	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.164000	0.58190	2.415000	0.81967	0.448000	0.29417	CGC		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		A	119568488	G	A	119568488	3	1	130	1	0	0	0	0	1	0	0	0	15170	1087	38	1	650	1	SRRM4	12	119568488	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	65881293	119568488	14283407	55	8893											
CIT	11113	broad.mit.edu	37	chr12	120138625	120138625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaatccacgaacactcCaaattctgcaaggtgtcaag	15	8	8	10	1	2	1	1	0	1	1	4	2	4	1	2	1	2	2	2	1	6	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:120138625C>T	ENST00000261833.7	-	43	5474	c.5422G>A	c.(5422-5424)Gga>Aga	p.G1808R	CIT_ENST00000392521.2_Missense_Mutation_p.G1850R|RP1-127H14.3_ENST00000535109.1_3'UTR|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1808	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACGAACACTCCAAATTCTGCA	0.547																																						uc001txj.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5548-5550)Gga>Aga		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							140	112	122					12																	120138625		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120138625C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5422G>A	12.37:g.120138625C>T	ENSP00000261833:p.Gly1808Arg					CIT_uc001txh.2_Missense_Mutation_p.G1327R|CIT_uc001txi.2_Missense_Mutation_p.G1808R	p.G1850R	NM_001206999	NP_001193928	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	43	5604	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1808			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5548G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518339	0.96416	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.05717	3.4;3.4	5.6	5.6	0.85130	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01591	-1.1317	10	0.87932	D	0	.	19.6154	0.95632	0.0:1.0:0.0:0.0	.	1850;1808;1326	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	R	1850;1808	ENSP00000376306:G1850R;ENSP00000261833:G1808R	ENSP00000261833:G1808R	G	-	1	0	CIT	118623008	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.790000	0.85794	2.652000	0.90054	0.650000	0.86243	GGA		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120138625	C	T	120138625	3	4	130	1	0	0	0	0	1	0	0	0	3438	603	21	3	681	3	CIT	12	120138625	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	570137	120138625	13713270	56	8894											
PAN3	255967	broad.mit.edu	37	chr13	28794510	28794510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctactgctggattagCgccaggtaagttgagtaact	9	11	11	10	1	0	1	0	1	0	0	0	2	0	2	2	2	5	5	2	2	4	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr13:28794510C>T	ENST00000380958.3	+	6	1147	c.995C>T	c.(994-996)gCg>gTg	p.A332V	PAN3_ENST00000399613.1_Missense_Mutation_p.A132V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGGATTAGCGCCAGGTAAG	0.423																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(994-996)gCg>gTg		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							162	163	163					13																	28794510		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794510C>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.995C>T	13.37:g.28794510C>T	ENSP00000370345:p.Ala332Val					PAN3_uc010tdo.1_Missense_Mutation_p.A332V|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.A132V	p.A332V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	1147	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	332			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.995C>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740449	0.69304	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.47869	0.83;0.87	5.6	5.6	0.85130	.	0.050294	0.85682	D	0.000000	T	0.35098	0.0920	N	0.19112	0.55	0.80722	D	1	P;P;B	0.51791	0.948;0.669;0.44	B;B;B	0.39503	0.301;0.036;0.016	T	0.11567	-1.0582	10	0.29301	T	0.29	-13.567	19.6153	0.95632	0.0:1.0:0.0:0.0	.	332;332;278	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	V	332;132	ENSP00000370345:A332V;ENSP00000382522:A132V	ENSP00000370345:A332V	A	+	2	0	PAN3	27692510	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.642000	0.67888	2.630000	0.89119	0.555000	0.69702	GCG		0.423	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		T	28794510	C	T	28794510	3	4	130	1	0	0	0	0	1	0	0	0	11415	768	27	1	1017	1	PAN3	13	28794510	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		28794510	86375368	57	8895											
TRIP11	9321	broad.mit.edu	37	chr14	92470681	92470681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttacttgctgttttaaCttgtcacgttcctgtagaag	7	19	7	8	1	2	1	1	0	1	1	3	1	3	1	1	0	3	4	1	0	4	9			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:92470681C>T	ENST00000267622.4	-	11	4012	c.3639G>A	c.(3637-3639)aaG>aaA	p.K1213K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1213					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.K1213N(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTGTTTTAACTTGTCACGTT	0.428			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.3				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)	p.K1213N(2)	breast(1)	breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3637-3639)aaG>aaA		Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.							86	81	83					14																	92470681		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470681C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3639G>A	14.37:g.92470681C>T						TRIP11_uc010auf.2_Silent_p.K949K	p.K1213K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	10	4013	-			1213					B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.3639G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.694849	0.00731	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.46	-4.73	0.03259	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.39028	D	0.95987	.	.	.	.	.	.	T	0.59852	-0.7376	4	.	.	.	.	13.457	0.61204	0.0:0.5463:0.0:0.4537	.	.	.	.	I	929	.	.	V	-	1	0	TRIP11	91540434	0.022000	0.18835	0.000000	0.03702	0.201000	0.24016	-0.645000	0.05409	-0.919000	0.03803	-0.391000	0.06502	GTT		0.428	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92470681	C	T	92470681	2	4	130	1	0	0	0	0	0	0	0	1	16552	564	20	3		3	TRIP11	14	92470681	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		92470681	14878859	58	8896											
PRIMA1	145270	broad.mit.edu	37	chr14	94203651	94203651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagggaggcacagcataCggcaatgatgatcaccagcc	13	4	11	13	1	1	2	1	2	0	0	1	3	1	3	3	3	3	3	3	3	2	1	rs200260569		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:94203651C>T	ENST00000393140.1	-	4	397	c.295G>A	c.(295-297)Gta>Ata	p.V99I	PRIMA1_ENST00000393143.1_Missense_Mutation_p.V99I|PRIMA1_ENST00000316227.3_Missense_Mutation_p.V99I	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	99					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCACAGCATACGGCAATGATG	0.532																																						uc001ybw.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(295-297)Gta>Ata		Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.							132	122	125					14																	94203651		2203	4300	6503	SO:0001583	missense	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94203651C>T		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.295G>A	14.37:g.94203651C>T	ENSP00000376848:p.Val99Ile					PRIMA1_uc001ybx.1_Non-coding_Transcript	p.V99I	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	3	337	-		all_cancers(154;0.127)	99					Q86XR6	Missense_Mutation	SNP	ENST00000393140.1	37	c.295G>A	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705227	0.68615	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.95	4.06	0.47325	.	0.194334	0.30584	N	0.009306	T	0.47414	0.1444	N	0.12746	0.255	0.38731	D	0.953673	D	0.67145	0.996	P	0.56563	0.801	T	0.55630	-0.8111	9	0.52906	T	0.07	-7.581	12.1732	0.54169	0.0:0.9193:0.0:0.0807	.	99	Q86XR5	PRIMA_HUMAN	I	99	.	ENSP00000320948:V99I	V	-	1	0	PRIMA1	93273404	0.658000	0.27402	0.127000	0.21898	0.987000	0.75469	2.193000	0.42658	1.219000	0.43474	-0.263000	0.10527	GTA		0.532	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		T	94203651	C	T	94203651	3	4	130	1	0	0	0	0	1	0	0	0	12492	536	19	1	174	1	PRIMA1	14	94203651	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	1732970	94203651	13145889	59	8897											
AKT1	207	broad.mit.edu	37	chr14	105241276	105241276	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggctcccactcactGtgaggaaggggtgcctggag	7	8	15	11	0	2	1	1	1	1	0	3	3	3	3	2	5	1	1	2	5	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:105241276G>A	ENST00000554581.1	-	6	2112	c.632C>T	c.(631-633)aCa>aTa	p.T211I	AKT1_ENST00000349310.3_Splice_Site_p.T211I|AKT1_ENST00000555528.1_Splice_Site_p.T211I|AKT1_ENST00000402615.2_Splice_Site_p.T211I|AKT1_ENST00000544168.1_Splice_Site_p.T149I|AKT1_ENST00000554848.1_Splice_Site_p.T211I|AKT1_ENST00000407796.2_Splice_Site_p.T211I|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554585.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CCCACTCACTGTGAGGAAGGG	0.647		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	uc001ypk.3		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.e7+1		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						74	69	70					14																	105241276		2203	4300	6503	SO:0001630	splice_region_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105241276G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.633+1C>T	14.37:g.105241276G>A						AKT1_uc001ypl.3_Splice_Site_p.T211_splice|AKT1_uc010axa.3_Splice_Site_p.T211_splice|AKT1_uc001ypm.3_Splice_Site_p.T211_splice|AKT1_uc001ypn.3_Splice_Site_p.T211_splice|AKT1_uc010tyk.2_Splice_Site_p.T149_splice	p.T211_splice	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	7	1187	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	211			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.633_splice	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422472	0.83559	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	3.92	3.92	0.45320	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	N	0.01729	-0.75	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.47749	-0.9093	10	0.28530	T	0.3	.	16.0891	0.81080	0.0:0.0:1.0:0.0	.	211	P31749	AKT1_HUMAN	I	211;211;211;211;211;149;211	ENSP00000451828:T211I;ENSP00000384293:T211I;ENSP00000270202:T211I;ENSP00000385326:T211I;ENSP00000450688:T211I;ENSP00000443897:T149I;ENSP00000451166:T211I	ENSP00000270202:T211I	T	-	2	0	AKT1	104312321	1.000000	0.71417	0.946000	0.38457	0.892000	0.51952	7.544000	0.82117	2.011000	0.59026	0.491000	0.48974	ACA		0.647	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163	Missense_Mutation	A	105241276	G	A	105241276	5	1	130	1	0	0	0	0	0	0	1	0	478	1391	48	3	842	3	AKT1	14	105241276	Splice_Site	SNP	G	TCGA-14-0789-01A-01W-0424-08	11037625	105241276	2108264	60	8898											
GABRB3	2562	broad.mit.edu	37	chr15	26793162	26793162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctctgtttcctgtactgGattcctgagttgtcaaagga	8	15	10	8	0	2	1	1	1	1	0	4	3	4	3	2	2	2	4	2	2	2	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:26793162G>T	ENST00000311550.5	-	9	1311	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	GABRB3_ENST00000545868.1_Silent_p.I315I|GABRB3_ENST00000541819.2_Silent_p.I456I|GABRB3_ENST00000400188.3_Silent_p.I329I|GABRB3_ENST00000299267.4_Silent_p.I400I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	400					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCTGTACTGGATTCCTGAGT	0.512																																						uc001zbb.3																			0		p.V455L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1366-1368)atC>atA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						102	93	96					15																	26793162		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793162G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1200C>A	15.37:g.26793162G>T						GABRB3_uc021sgg.1_Silent_p.I329I|GABRB3_uc021sgh.1_Silent_p.I315I|GABRB3_uc001zaz.3_Silent_p.I400I|GABRB3_uc001zba.3_Silent_p.I400I	p.I456I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1471	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	400					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.1368C>A	CCDS10019.1																																																																																				0.512	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26793162	G	T	26793162	2	4	130	1	0	0	0	0	0	0	0	1	6168	1164	41	5		5	GABRB3	15	26793162	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08		26793162	75738230	61	8899											
OTUD7A	161725	broad.mit.edu	37	chr15	31776752	31776752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggccacggagtcggcgCgcgtcttgtccttctccttg	2	13	13	13	5	2	0	0	0	2	0	5	1	3	1	3	3	0	1	3	3	0	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:31776752C>T	ENST00000307050.4	-	11	1618	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R516H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	509					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGAGTCGGCGCGCGTcttgtc	0.592																																						uc001zfq.3																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1525-1527)cGc>cAc		Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.							91	69	77					15																	31776752		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776752C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1526G>A	15.37:g.31776752C>T	ENSP00000305926:p.Arg509His					OTUD7A_uc001zfr.3_Missense_Mutation_p.R516H	p.R509H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	10	1619	-		all_lung(180;1.6e-09)	509					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1526G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603346	0.87157	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.40756	1.03;1.02	4.88	4.88	0.63580	.	0.102990	0.64402	D	0.000010	T	0.62612	0.2442	L	0.60455	1.87	0.37374	D	0.911756	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.70303	-0.4909	10	0.72032	D	0.01	-23.749	18.0667	0.89392	0.0:1.0:0.0:0.0	.	516;509	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	509;516	ENSP00000305926:R509H;ENSP00000372358:R516H	ENSP00000305926:R509H	R	-	2	0	OTUD7A	29564044	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.082000	0.76851	2.241000	0.73720	0.650000	0.86243	CGC		0.592	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		T	31776752	C	T	31776752	3	4	130	1	0	0	0	0	1	0	0	0	11318	768	27	1	1258	1	OTUD7A	15	31776752	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	4983590	31776752	70754640	62	8900											
RYR3	6263	broad.mit.edu	37	chr15	33765674	33765674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcataaggagcagaggaagTtctgcctggcagccgaggga	11	7	15	8	1	2	1	1	0	1	1	2	5	2	4	2	4	3	3	2	4	2	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:33765674T>A	ENST00000389232.4	+	2	176	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	RYR3_ENST00000415757.3_Missense_Mutation_p.F36I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	36					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGAGGAAGTTCTGCCTGGC	0.547																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(106-108)Ttc>Atc		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							99	103	102					15																	33765674		2093	4211	6304	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33765674T>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.106T>A	15.37:g.33765674T>A	ENSP00000373884:p.Phe36Ile					RYR3_uc010bar.3_Missense_Mutation_p.F36I	p.F36I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	1	176	+		all_lung(180;7.18e-09)	36					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.106T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294412	0.60086	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98192	-4.78;-4.78	4.86	4.86	0.63082	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	N	0.04508	-0.205	0.52099	D	0.999941	D;P	0.57899	0.981;0.897	D;P	0.69142	0.962;0.69	D	0.93439	0.6792	10	0.07990	T	0.79	.	13.5742	0.61864	0.0:0.0:0.0:1.0	.	36;36	Q15413-2;Q15413	.;RYR3_HUMAN	I	36	ENSP00000373884:F36I;ENSP00000399610:F36I	ENSP00000354735:F36I	F	+	1	0	RYR3	31552966	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.721000	0.68477	2.029000	0.59856	0.528000	0.53228	TTC		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33765674	T	A	33765674	3	1	130	1	0	0	0	0	1	0	0	0	13770	1725	60	5	112	5	RYR3	15	33765674	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	1988922	33765674	68765718	63	8901											
DUOX2	50506	broad.mit.edu	37	chr15	45386398	45386398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggtcctgcctgttgaCgagctgacaggccttctcta	5	11	12	13	2	1	2	0	2	1	0	4	3	2	2	3	3	2	3	3	3	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:45386398C>T	ENST00000603300.1	-	34	4799	c.4597G>A	c.(4597-4599)Gtc>Atc	p.V1533I	DUOX2_ENST00000389039.6_Missense_Mutation_p.V1533I	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1533					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGCCTGTTGACGAGCTGACAG	0.572																																						uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4597-4599)Gtc>Atc		Homo sapiens dual oxidase 2 (DUOX2), mRNA.							140	119	126					15																	45386398		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45386398C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4597G>A	15.37:g.45386398C>T	ENSP00000475084:p.Val1533Ile					DUOX2_uc010bea.3_Missense_Mutation_p.V1533I	p.V1533I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	33	4800	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1533					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4597G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	1.584	-0.530777	0.04112	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.36	-3.34	0.04943	.	0.553031	0.19529	N	0.112082	T	0.09335	0.0230	N	0.01874	-0.695	0.21445	N	0.999681	B	0.02656	0.0	B	0.04013	0.001	T	0.32481	-0.9905	9	0.05436	T	0.98	-13.3951	8.1402	0.31078	0.0:0.1973:0.1603:0.6423	.	1533	Q9NRD8	DUOX2_HUMAN	I	1533	.	ENSP00000373691:V1533I	V	-	1	0	DUOX2	43173690	0.277000	0.24220	0.163000	0.22734	0.691000	0.40173	0.049000	0.14099	-0.815000	0.04346	-0.783000	0.03347	GTC		0.572	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45386398	C	T	45386398	3	4	130	1	0	0	0	0	1	0	0	0	4801	536	19	1	53	1	DUOX2	15	45386398	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	11620724	45386398	57144994	64	8902											
CACNA1H	8912	broad.mit.edu	37	chr16	1262094	1262094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggaggaggcgcggcGgcgagaggagaagcggctgc	8	1	24	8	6	0	2	0	0	0	2	0	7	0	5	0	9	2	1	0	9	1	0	rs541249511	byFrequency	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:1262094G>A	ENST00000348261.5	+	25	4963	c.4715G>A	c.(4714-4716)cGg>cAg	p.R1572Q	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1572Q|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1572Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1572					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAGGCGCGGCGGCGAGAGGAG	0.682													G|||	2	0.000399361	0	0	5008	,	,		12859	0.002		0	False		,,,				2504	0					uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4714-4716)cGg>cAg		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)						84	89	88					16																	1262094		2131	4229	6360	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262094G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4715G>A	16.37:g.1262094G>A	ENSP00000334198:p.Arg1572Gln					CACNA1H_uc002ckt.3_Missense_Mutation_p.R1572Q|CACNA1H_uc002cku.3_Missense_Mutation_p.R278Q|CACNA1H_uc010brj.3_Missense_Mutation_p.R278Q|CACNA1H_uc002ckv.3_Missense_Mutation_p.R278Q	p.R1572Q	NM_021098	NP_066921	O95180	CAC1H_HUMAN			24	4963	+		Hepatocellular(780;0.00369)	1572					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4715G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546415	0.65198	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96491	-4.03;-3.94	4.13	3.17	0.36434	.	0.603823	0.16272	N	0.221741	D	0.93949	0.8063	M	0.66378	2.025	0.34466	D	0.702337	P;P;P;P;P	0.47484	0.73;0.896;0.654;0.853;0.642	B;B;B;B;B	0.38264	0.026;0.177;0.048;0.269;0.124	D	0.94078	0.7341	10	0.42905	T	0.14	.	11.0318	0.47779	0.0924:0.0:0.9076:0.0	.	313;313;313;1572;1572	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Q	1572	ENSP00000334198:R1572Q;ENSP00000351401:R1572Q	ENSP00000334198:R1572Q	R	+	2	0	CACNA1H	1202095	1.000000	0.71417	0.983000	0.44433	0.807000	0.45602	3.845000	0.55880	1.064000	0.40671	0.467000	0.42956	CGG		0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1262094	G	A	1262094	3	1	130	1	0	0	0	0	1	0	0	0	2545	1116	39	2	4809	2	CACNA1H	16	1262094	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		1262094	89092659	65	8903											
PAQR4	124222	broad.mit.edu	37	chr16	3021625	3021625	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctggcgtgctctcacCgccccctccaccagtgctcg	3	7	11	20	4	1	0	1	0	1	0	4	0	2	0	6	2	2	3	6	2	0	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:3021625C>A	ENST00000318782.8	+	3	928	c.498C>A	c.(496-498)acC>acA	p.T166T	PAQR4_ENST00000576565.1_Silent_p.T99T|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.T127T|PAQR4_ENST00000572687.1_Silent_p.T92T|PAQR4_ENST00000574988.1_Silent_p.T99T|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	166						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GTGCTCTCACCGCCCCCTCCA	0.697																																						uc002csj.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(496-498)acC>acA		Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.							31	35	34					16																	3021625		2194	4292	6486	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021625C>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.498C>A	16.37:g.3021625C>A						PAQR4_uc002csk.4_Silent_p.T127T|PAQR4_uc002csl.4_Silent_p.T92T|PAQR4_uc010uwm.2_Silent_p.T97T	p.T166T	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			2	832	+			166					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.498C>A	CCDS10485.1																																																																																				0.697	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		A	3021625	C	A	3021625	2	1	130	1	0	0	0	0	0	0	0	1	11437	639	23	5		5	PAQR4	16	3021625	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	1759531	3021625	87333128	66	8904											
ZP2	7783	broad.mit.edu	37	chr16	21213466	21213466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaggggtatgtggaaccGtaccagcccctgagactgag	10	8	13	10	1	1	2	1	2	0	1	1	4	1	3	4	3	3	2	4	3	3	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:21213466G>A	ENST00000574002.1	-	12	1728	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZP2_ENST00000219593.4_Missense_Mutation_p.R416W|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R416W			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	416	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGTGGAACCGTACCAGCCCC	0.507																																						uc010bwn.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1363-1365)Cgg>Tgg		Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.							88	78	81					16																	21213466		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21213466G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1246C>T	16.37:g.21213466G>A	ENSP00000460971:p.Arg416Trp					ZP2_uc002dii.2_Missense_Mutation_p.R416W	p.R455W	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	10	1445	-			416			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1363C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384048	0.25031	.	.	ENSG00000103310	ENST00000219593	D	0.82984	-1.67	5.83	-0.0239	0.13941	Zona pellucida sperm-binding protein (3);	0.917115	0.09272	N	0.824992	T	0.70159	0.3192	L	0.38531	1.155	0.09310	N	1	P;B	0.35844	0.524;0.205	B;B	0.28916	0.096;0.096	T	0.54622	-0.8266	10	0.36615	T	0.2	0.2289	6.6004	0.22697	0.1381:0.0:0.3582:0.5037	.	416;416	Q4VAP1;Q05996	.;ZP2_HUMAN	W	416	ENSP00000219593:R416W	ENSP00000219593:R416W	R	-	1	2	ZP2	21120967	0.000000	0.05858	0.000000	0.03702	0.665000	0.39181	0.200000	0.17257	-0.203000	0.10251	0.467000	0.42956	CGG		0.507	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21213466	G	A	21213466	3	1	130	1	0	0	0	0	1	0	0	0	18213	1144	40	1	1027	1	ZP2	16	21213466	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	18191841	21213466	69141287	67	8905											
NF1	4763	broad.mit.edu	37	chr17	29556481	29556481	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttttgactcccaaggaCaggtaaagtgttctcttatt	10	16	8	7	0	1	1	0	1	1	0	3	2	2	2	1	2	0	3	1	2	4	7			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:29556481C>T	ENST00000358273.4	+	21	3231	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q950*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	950					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCCAAGGACAGGTAAAGTG	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)|p.G949fs*5(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2848-2850)Cag>Tag		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							78	80	79					17																	29556481		2200	4297	6497	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556481C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2848C>T	17.37:g.29556481C>T	ENSP00000351015:p.Gln950*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.Q950*|NF1_uc010csn.2_Nonsense_Mutation_p.Q810*|NF1_uc002hgi.1_5'UTR	p.Q950*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	3231	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	950					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.2848C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	44	11.090366	0.99514	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	5.48	0.80851	.	0.057246	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.3532	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	950;950;616	.	ENSP00000348498:Q950X	Q	+	1	0	NF1	26580607	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.456000	0.80751	2.594000	0.87642	0.455000	0.32223	CAG		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29556481	C	T	29556481	4	4	130	1	0	0	0	0	0	1	0	0	10356	479	17	3	2991	3	NF1	17	29556481	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		29556481	51638729	68	8906											
MARCH10	162333	broad.mit.edu	37	chr17	60865912	60865912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccccaaaactgatcgcGtttcttctcatttgggtctc	6	15	7	13	2	3	1	1	1	3	0	6	1	3	1	2	1	2	1	2	1	2	4	rs146312903	byFrequency	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:60865912G>A	ENST00000311269.5	-	3	413	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	MARCH10_ENST00000544856.2_Missense_Mutation_p.R47C|MARCH10_ENST00000456609.2_Missense_Mutation_p.R47C|MARCH10_ENST00000583600.1_Missense_Mutation_p.R47C	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	47					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACTGATCGCGTTTCTTCTCA	0.443													G|||	5	0.000998403	0.0038	0	5008	,	,		17654	0		0	False		,,,				2504	0					uc010dds.3																			0		p.R47R(1)|p.R47H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(139-141)Cgc>Tgc		Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	15,4391	22.3+/-47.3	0,15,2188	143	121	128		139,139	5.2	0.8	17	dbSNP_134	128	0,8600		0,0,4300	yes	missense,missense	MARCH10	NM_001100875.1,NM_152598.2	180,180	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging,probably-damaging	47/809,47/809	60865912	15,12991	2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60865912G>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.139C>T	17.37:g.60865912G>A	ENSP00000311496:p.Arg47Cys					MARCH10_uc010ddr.3_Missense_Mutation_p.R47C|MARCH10_uc002jag.4_Missense_Mutation_p.R47C|MARCH10_uc002jah.2_Missense_Mutation_p.R47C	p.R47C	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN			2	424	-			47					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.139C>T	CCDS11635.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.39	1.922300	0.33908	0.003404	0.0	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.23950	1.88;1.88;1.88	5.2	5.2	0.72013	.	0.488505	0.14673	N	0.305231	T	0.47857	0.1468	M	0.63428	1.95	0.32106	N	0.589972	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.67231	0.893;0.95;0.893	T	0.56275	-0.8006	10	0.87932	D	0	-0.8947	14.2389	0.65945	0.0:0.0:1.0:0.0	.	47;47;47	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	C	47	ENSP00000416177:R47C;ENSP00000311496:R47C;ENSP00000443746:R47C	ENSP00000311496:R47C	R	-	1	0	MARCH10	58219644	0.989000	0.36119	0.782000	0.31804	0.711000	0.40976	2.324000	0.43831	2.422000	0.82143	0.561000	0.74099	CGC		0.443	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		A	60865912	G	A	60865912	3	1	130	1	0	0	0	0	1	0	0	0	9299	1145	40	1	2323	1	MARCH10	17	60865912	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	31309431	60865912	20329298	69	8907											
POTEC	388468	broad.mit.edu	37	chr18	14542738	14542738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtccagatcttctcgAcggacgtggtacctcggctc	6	11	11	13	4	2	1	0	0	2	1	6	3	3	2	2	3	2	3	2	3	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:14542738A>G	ENST00000358970.5	-	1	407	c.408T>C	c.(406-408)cgT>cgC	p.R136R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GATCTTCTCGACGGACGTGGT	0.607																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(406-408)cgT>cgC		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							37	50	46					18																	14542738		692	1590	2282	SO:0001819	synonymous_variant	388468							g.chr18:14542738A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.408T>C	18.37:g.14542738A>G						POTEC_uc010xaj.2_Non-coding_Transcript	p.R136R	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			0	862	-			136						Silent	SNP	ENST00000358970.5	37	c.408T>C	CCDS45835.1																																																																																				0.607	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14542738	A	G	14542738	2	3	130	1	0	0	0	0	0	0	0	1	12262	262	10	4		4	POTEC	18	14542738	Silent	SNP	A	TCGA-14-0789-01A-01W-0424-08		14542738	63534510	70	8908											
ZNF532	55205	broad.mit.edu	37	chr18	56587754	56587754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgcccctagatgaagaCccctccaaactgtgtagaca	12	7	8	14	0	0	4	0	1	0	3	1	4	1	4	6	0	2	1	6	0	4	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:56587754C>T	ENST00000336078.4	+	4	3011	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	ZNF532_ENST00000591808.1_Silent_p.D745D|ZNF532_ENST00000591083.1_Silent_p.D745D|ZNF532_ENST00000591230.1_Silent_p.D745D|ZNF532_ENST00000589288.1_Silent_p.D745D	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TAGATGAAGACCCCTCCAAAC	0.483																																						uc010xeg.2																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(2233-2235)gaC>gaT		Homo sapiens zinc finger protein 532 (ZNF532), mRNA.							45	41	42					18																	56587754		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587754C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2235C>T	18.37:g.56587754C>T						ZNF532_uc002lhp.3_Silent_p.D743D|ZNF532_uc002lho.3_Silent_p.D745D|ZNF532_uc002lhr.3_Silent_p.D743D|ZNF532_uc002lhs.3_Silent_p.D743D	p.D745D	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			2	2432	+			745					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.2235C>T	CCDS11969.1																																																																																				0.483	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56587754	C	T	56587754	2	4	130	1	0	0	0	0	0	0	0	1	17969	506	18	3		3	ZNF532	18	56587754	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	42045016	56587754	21489494	71	8909											
ZNF516	9658	broad.mit.edu	37	chr18	74154336	74154336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgccgggcccctgcgcGgtgatgtggtccctctcgat	2	9	14	16	5	1	1	0	1	1	0	3	2	2	1	5	3	2	1	5	3	0	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:74154336G>A	ENST00000443185.2	-	3	992	c.675C>T	c.(673-675)acC>acT	p.T225T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTGCGCGGTGATGTGGT	0.697																																						uc021ulp.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(673-675)acC>acT		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.							18	20	20					18																	74154336		2146	4251	6397	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154336G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.675C>T	18.37:g.74154336G>A							p.T225T	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	993	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	225						Silent	SNP	ENST00000443185.2	37	c.675C>T																																																																																					0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		A	74154336	G	A	74154336	2	1	130	1	0	0	0	0	0	0	0	1	17957	1103	39	2		2	ZNF516	18	74154336	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	17566582	74154336	3922912	72	8910											
ACTL9	284382	broad.mit.edu	37	chr19	8807821	8807821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagcatttgcggtacaCgatatagggaccctgttcct	9	12	10	10	2	1	0	1	0	0	0	2	2	2	1	2	2	3	4	2	2	4	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:8807821C>T	ENST00000324436.3	-	1	1351	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	411						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCGGTACACGATATAGGGA	0.632																																						uc002mkl.2																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1231-1233)Gtg>Atg		Homo sapiens actin-like 9 (ACTL9), mRNA.							51	49	50					19																	8807821		2200	4297	6497	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807821C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1231G>A	19.37:g.8807821C>T	ENSP00000316674:p.Val411Met						p.V411M	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			0	1352	-			411					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1231G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.568143	0.65651	.	.	ENSG00000181786	ENST00000324436	D	0.96830	-4.14	4.37	4.37	0.52481	.	0.000000	0.38605	U	0.001638	D	0.98036	0.9353	M	0.83603	2.65	0.51767	D	0.999939	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	16.0135	0.80420	0.0:1.0:0.0:0.0	.	411	Q8TC94	ACTL9_HUMAN	M	411	ENSP00000316674:V411M	ENSP00000316674:V411M	V	-	1	0	ACTL9	8668821	1.000000	0.71417	0.988000	0.46212	0.347000	0.29111	5.446000	0.66600	2.419000	0.82065	0.457000	0.33378	GTG		0.632	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		T	8807821	C	T	8807821	3	4	130	1	0	0	0	0	1	0	0	0	203	536	19	1	23	1	ACTL9	19	8807821	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		8807821	50321162	73	8911											
LDLR	3949	broad.mit.edu	37	chr19	11224366	11224366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgttgcggataccaaggGcgtgaagaggaaaacgttat	12	9	13	7	3	1	2	0	1	1	1	1	4	1	4	1	3	3	2	1	3	6	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:11224366G>C	ENST00000558518.1	+	10	1701	c.1514G>C	c.(1513-1515)gGc>gCc	p.G505A	LDLR_ENST00000557933.1_Missense_Mutation_p.G505A|LDLR_ENST00000535915.1_Missense_Mutation_p.G464A|LDLR_ENST00000545707.1_Missense_Mutation_p.G378A|LDLR_ENST00000455727.2_Missense_Mutation_p.G337A|LDLR_ENST00000558013.1_Missense_Mutation_p.G505A	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	505					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GATACCAAGGGCGTGAAGAGG	0.592																																					GBM(18;201 575 7820 21545)	uc002mqk.4																			1	Unknown(1)	p.K504R(1)|p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CM023641	LDLR	M		c.(1513-1515)gGc>gCc		Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						114	91	99					19																	11224366		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224366G>C	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1514G>C	19.37:g.11224366G>C	ENSP00000454071:p.Gly505Ala					LDLR_uc010xlk.2_Missense_Mutation_p.G505A|LDLR_uc010xll.2_Missense_Mutation_p.G464A|LDLR_uc021upc.1_Missense_Mutation_p.G384A|LDLR_uc010xln.2_Missense_Mutation_p.G378A|LDLR_uc010xlo.2_Missense_Mutation_p.G337A|LDLR_uc010xlm.2_Missense_Mutation_p.G358A|LDLR_uc021upd.1_Missense_Mutation_p.G242A	p.G505A	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	9	1701	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	505					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1514G>C	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244047	0.59103	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.99232	-5.6;-5.6;-5.6	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000015	D	0.99533	0.9833	H	0.94964	3.605	0.80722	D	1	P;D;D;D;D;P	0.58268	0.939;0.982;0.967;0.982;0.967;0.942	P;D;P;P;P;P	0.65233	0.894;0.933;0.904;0.904;0.904;0.904	D	0.98057	1.0391	10	0.62326	D	0.03	.	16.4495	0.83974	0.0:0.0:1.0:0.0	.	337;378;384;464;517;505	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	A	505;378;464;337	ENSP00000437639:G378A;ENSP00000440520:G464A;ENSP00000397829:G337A	ENSP00000252444:G505A	G	+	2	0	LDLR	11085366	1.000000	0.71417	0.092000	0.20876	0.008000	0.06430	9.220000	0.95180	2.186000	0.69663	0.555000	0.69702	GGC		0.592	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			C	11224366	G	C	11224366	3	2	130	1	0	0	0	0	1	0	0	0	8704	1203	42	5	1552	5	LDLR	19	11224366	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	2416545	11224366	47904617	74	8912											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.4																			2	Substitution - Missense(2)	p.T413I(2)|p.R412I(1)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		Homo sapiens zinc finger protein 709 (ZNF709), mRNA.							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			3	1399	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		A	12575498	G	A	12575498	3	1	130	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	1351132	12575498	46553485	75	8913											
GIPC1	10755	broad.mit.edu	37	chr19	14591540	14591540	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccgatctggcccccCaggagcttgtccatgtccac	6	8	9	18	1	1	0	0	0	1	0	4	2	4	1	7	2	2	1	7	2	0	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:14591540C>G	ENST00000393033.4	-	5	608	c.339G>C	c.(337-339)ctG>ctC	p.L113L	GIPC1_ENST00000393029.3_Silent_p.L16L|GIPC1_ENST00000591349.1_Silent_p.L16L|GIPC1_ENST00000393028.1_Silent_p.L16L|GIPC1_ENST00000345425.2_Silent_p.L113L|GIPC1_ENST00000586027.1_Silent_p.L113L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	113					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTGGCCCCCCAGGAGCTTGT	0.612											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	uc002myt.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(337-339)ctG>ctC		Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.							121	102	108					19																	14591540		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591540C>G	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.339G>C	19.37:g.14591540C>G			OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_uc002myv.3_Silent_p.L16L|GIPC1_uc002myu.3_Silent_p.L113L|GIPC1_uc002myw.3_Silent_p.L16L|GIPC1_uc002myx.3_Silent_p.L113L|GIPC1_uc002myy.3_Silent_p.L16L	p.L113L	NM_005716	NP_974223	O14908	GIPC1_HUMAN			4	609	-			113					A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.339G>C	CCDS12310.1																																																																																				0.612	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			G	14591540	C	G	14591540	2	3	130	1	0	0	0	0	0	0	0	1	6392	581	21	5		5	GIPC1	19	14591540	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	2016042	14591540	44537443	76	8914											
ZNF546	339327	broad.mit.edu	37	chr19	40521654	40521656	+	In_Frame_Del	DEL	ATC	ATC	-																															acttactttacatcagagaaAtcatattagtgaggaagtcc																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:40521654_40521656delATC	ENST00000347077.4	+	7	2693_2695	c.2477_2479delATC	c.(2476-2481)aatcat>aat	p.H827del	ZNF546_ENST00000600094.1_In_Frame_Del_p.H801del|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	827					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATCAGAGAAATCATATTAGTGA	0.33																																						uc002oms.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(2476-2481)aatcat>aat		Homo sapiens zinc finger protein 546 (ZNF546), mRNA.																																				SO:0001651	inframe_deletion	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521654_40521656delATC	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2477_2479delATC	19.37:g.40521654_40521656delATC	ENSP00000339823:p.His827del					ZNF546_uc002omt.2_In_Frame_Del_p.H801del	p.H827del	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			6	2733_2735	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		827					A8K913	In_Frame_Del	DEL	ENST00000347077.4	37	c.2477_2479delATC	CCDS12548.1																																																																																				0.33	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		-	40521656	ATC	-	40521654	7	5	130	1	0	1	0	1	0	0	0	0	17975	101	4	0	2495	0	ZNF546	19	40521654	In_Frame_Del	DEL	ATC	TCGA-14-0789-01A-01W-0424-08	25930114	40521654	18607329	77	8915											
TSKS	60385	broad.mit.edu	37	chr19	50243159	50243159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggagcacatcttcaaGtgtagatggtccagagtggc	10	9	15	7	0	2	2	1	0	1	2	3	4	3	4	1	4	1	2	1	4	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:50243159G>A	ENST00000246801.3	-	11	1735	c.1653C>T	c.(1651-1653)caC>caT	p.H551H	TSKS_ENST00000358830.3_Silent_p.H351H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	551					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACATCTTCAAGTGTAGATGGT	0.592																																						uc002ppm.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1651-1653)caC>caT		Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.							102	93	96					19																	50243159		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50243159G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1653C>T	19.37:g.50243159G>A							p.H551H	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1664	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	551					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1653C>T	CCDS12780.1																																																																																				0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		A	50243159	G	A	50243159	2	1	130	1	0	0	0	0	0	0	0	1	16623	1020	36	3		3	TSKS	19	50243159	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	9721505	50243159	8885824	78	8916											
PTPRA	5786	broad.mit.edu	37	chr20	2969091	2969091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaccggagaatggcagacGacaataagctcttcagggag	14	7	12	8	2	2	2	1	0	1	2	2	5	2	3	1	3	2	2	1	3	4	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:2969091G>A	ENST00000216877.6	+	8	1082	c.682G>A	c.(682-684)Gac>Aac	p.D228N	PTPRA_ENST00000399903.2_Missense_Mutation_p.D237N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D228N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D93N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D228N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D237N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D248N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	237					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D237N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATGGCAGACGACAATAAGCT	0.507																																						uc010zqd.2																			2	Substitution - Missense(2)	p.D237N(2)	endometrium(2)	NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(742-744)Gac>Aac		Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.							111	110	110					20																	2969091		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2969091G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.682G>A	20.37:g.2969091G>A	ENSP00000216877:p.Asp228Asn					PTPRA_uc002whj.3_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.3_Missense_Mutation_p.D228N|PTPRA_uc002whl.3_Missense_Mutation_p.D228N|PTPRA_uc002whm.3_Missense_Mutation_p.D4N|PTPRA_uc002whn.3_Missense_Mutation_p.D228N|PTPRA_uc002who.3_5'UTR	p.D248N	NM_002836	NP_002827	P18433	PTPRA_HUMAN			7	1059	+			237			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.742G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.564551	0.96527	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T;T	0.70045	2.78;-0.45;2.78;2.78;2.78;2.78;2.78;2.78	5.66	5.66	0.87406	.	0.000000	0.85682	U	0.000000	D	0.82444	0.5038	M	0.81682	2.555	0.80722	D	1	P;P;D;D	0.71674	0.674;0.638;0.996;0.998	B;B;D;P	0.67548	0.079;0.096;0.952;0.861	T	0.80899	-0.1176	10	0.36615	T	0.2	.	19.7589	0.96306	0.0:0.0:1.0:0.0	.	248;237;237;228	B7Z2A4;P18433-3;P18433;P18433-4	.;.;PTPRA_HUMAN;.	N	237;228;228;237;93;248;228;228	ENSP00000369756:D237N;ENSP00000414089:D228N;ENSP00000216877:D228N;ENSP00000382787:D237N;ENSP00000351559:D93N;ENSP00000393553:D248N;ENSP00000314568:D228N;ENSP00000348468:D228N	ENSP00000216877:D228N	D	+	1	0	PTPRA	2917091	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	9.604000	0.98317	2.662000	0.90505	0.557000	0.71058	GAC		0.507	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			A	2969091	G	A	2969091	3	1	130	1	0	0	0	0	1	0	0	0	12795	1058	37	2	731	2	PTPRA	20	2969091	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		2969091	60056429	79	8917											
RBPJL	11317	broad.mit.edu	37	chr20	43936814	43936814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccaatcctttgactcaCctgagcctgcaggacagatc	9	9	7	16	0	1	3	1	2	0	1	4	4	3	4	5	1	2	1	5	1	1	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:43936814C>A	ENST00000343694.3	+	2	126	c.54C>A	c.(52-54)caC>caA	p.H18Q	MATN4_ENST00000360607.6_Splice_Site|MATN4_ENST00000342716.4_Splice_Site|MATN4_ENST00000372754.1_5'Flank|RBPJL_ENST00000372741.3_Missense_Mutation_p.H18Q|RBPJL_ENST00000372743.1_Missense_Mutation_p.H18Q|MATN4_ENST00000372751.4_Splice_Site|MATN4_ENST00000537548.1_Splice_Site|MATN4_ENST00000372756.1_5'Flank|MATN4_ENST00000353917.5_Splice_Site	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	18					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTTTGACTCACCTGAGCCTGC	0.627																																						uc002xns.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(52-54)caC>caA		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.							77	79	79					20																	43936814		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43936814C>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.54C>A	20.37:g.43936814C>A	ENSP00000341243:p.His18Gln					MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Splice_Site|RBPJL_uc002xnt.3_Missense_Mutation_p.H18Q	p.H18Q	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			1	126	+		Myeloproliferative disorder(115;0.0122)	18					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.54C>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535333	0.64972	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.60797	1.04;0.16;1.03	4.46	4.46	0.54185	.	0.287431	0.28901	N	0.013768	T	0.51024	0.1650	N	0.24115	0.695	0.31926	N	0.612851	D;D	0.61080	0.989;0.989	P;P	0.53912	0.737;0.737	T	0.49214	-0.8963	10	0.12766	T	0.61	-36.0278	12.7892	0.57523	0.0:1.0:0.0:0.0	.	18;18	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	Q	18	ENSP00000361828:H18Q;ENSP00000361826:H18Q;ENSP00000341243:H18Q	ENSP00000341243:H18Q	H	+	3	2	RBPJL	43370228	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.100000	0.50275	2.474000	0.83562	0.462000	0.41574	CAC		0.627	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		A	43936814	C	A	43936814	3	1	130	1	0	0	0	0	1	0	0	0	13162	521	18	5	60	5	RBPJL	20	43936814	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	40967723	43936814	19088706	80	8918											
NCOA5	57727	broad.mit.edu	37	chr20	44698964	44698964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtctctaagatccctcaCgtcccgaacgtcgcgcacac	11	7	7	16	5	2	1	1	0	1	1	6	2	4	1	2	0	1	1	2	0	3	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:44698964C>T	ENST00000290231.6	-	3	414	c.250G>A	c.(250-252)Gtg>Atg	p.V84M		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCTCACGTCCCGAACG	0.532																																						uc002xrd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(250-252)Gtg>Atg		Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.							133	125	128					20																	44698964		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44698964C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.250G>A	20.37:g.44698964C>T	ENSP00000290231:p.Val84Met					NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.V84M	p.V84M	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			1	778	-		Myeloproliferative disorder(115;0.0122)	84			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.250G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709469	0.30322	.	.	ENSG00000124160	ENST00000290231	T	0.47528	0.84	4.97	1.3	0.21679	.	0.329786	0.32002	N	0.006730	T	0.22781	0.0550	N	0.08118	0	0.19575	N	0.999969	B	0.06786	0.001	B	0.01281	0.0	T	0.13980	-1.0489	10	0.30078	T	0.28	-0.1234	7.3092	0.26465	0.0:0.0794:0.4236:0.497	.	84	Q9HCD5	NCOA5_HUMAN	M	84	ENSP00000290231:V84M	ENSP00000290231:V84M	V	-	1	0	NCOA5	44132371	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.283000	0.18846	0.048000	0.15891	-0.247000	0.11927	GTG		0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		T	44698964	C	T	44698964	3	4	130	1	0	0	0	0	1	0	0	0	10232	536	19	1	1513	1	NCOA5	20	44698964	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	762150	44698964	18326556	81	8919											
TLR7	51284	broad.mit.edu	37	chrX	12904281	12904281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagataacaatgtcacagcCgtccctactgttttgccatc	12	11	6	12	1	1	1	1	0	0	1	3	1	2	1	3	0	4	1	3	0	4	4	rs201282415		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:12904281C>T	ENST00000380659.3	+	3	793	c.654C>T	c.(652-654)gcC>gcT	p.A218A		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	218					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATGTCACAGCCGTCCCTACTG	0.343													C|||	1	0.000264901	8e-04	0	3775	,	,		15439	0		0	False		,,,				2504	0					uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(652-654)gcC>gcT		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						66	61	63					X																	12904281		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904281C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.654C>T	X.37:g.12904281C>T							p.A218A	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			2	793	+			218					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.654C>T	CCDS14151.1																																																																																				0.343	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		T	12904281	C	T	12904281	2	4	130	1	0	0	0	0	0	0	0	1	15953	639	23	2		2	TLR7	23	12904281	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		12904281	142366279	82	8920											
ZRSR2	8233	broad.mit.edu	37	chrX	15840971	15840971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctacttgtctccagatcGgactggctcctcctttggga	6	13	9	13	1	2	1	0	0	2	1	6	3	4	3	3	3	1	1	3	3	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:15840971G>A	ENST00000307771.7	+	11	1079	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	352					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCTCCAGATCGGACTGGCTCC	0.502			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.4				Rec	yes		X	Xp22.1	8233	"F, S, Mis"	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"			L			"MDS, CLL"		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(1054-1056)cGg>cAg		Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.							61	58	59					X																	15840971		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15840971G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1055G>A	X.37:g.15840971G>A	ENSP00000303015:p.Arg352Gln						p.R352Q	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			10	1100	+	Hepatocellular(33;0.183)		352					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.1055G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366284	0.61513	.	.	ENSG00000169249	ENST00000307771	.	.	.	5.49	4.63	0.57726	.	0.244651	0.42682	D	0.000667	T	0.47040	0.1424	M	0.68952	2.095	0.80722	D	1	P	0.47409	0.895	B	0.36030	0.216	T	0.47873	-0.9083	9	0.29301	T	0.29	.	13.6489	0.62299	0.0765:0.0:0.9235:0.0	.	352	Q15696	U2AFM_HUMAN	Q	352	.	ENSP00000303015:R352Q	R	+	2	0	ZRSR2	15750892	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.588000	0.82629	1.209000	0.43321	0.600000	0.82982	CGG		0.502	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		A	15840971	G	A	15840971	3	1	130	1	0	0	0	0	1	0	0	0	18222	1116	39	2	1097	2	ZRSR2	23	15840971	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	2936690	15840971	139429589	83	8921											
POF1B	79983	broad.mit.edu	37	chrX	84634327	84634327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgctcatacactacattttTttctggaggctgctgggctt	6	16	9	10	1	2	0	1	0	1	0	3	1	2	1	0	3	3	4	0	3	2	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:84634327T>G	ENST00000262753.4	-	2	278	c.133A>C	c.(133-135)Aaa>Caa	p.K45Q	POF1B_ENST00000373145.3_Missense_Mutation_p.K45Q	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	45						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTACATTTTTTTCTGGAGGC	0.577																																						uc004eer.2																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(133-135)Aaa>Caa		Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.							82	66	72					X																	84634327		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634327T>G	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.133A>C	X.37:g.84634327T>G	ENSP00000262753:p.Lys45Gln					POF1B_uc004ees.3_Missense_Mutation_p.K45Q	p.K45Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			1	279	-			45					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.133A>C	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445627	0.43429	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.11169	2.8;2.8	5.67	4.49	0.54785	.	0.000000	0.49916	D	0.000130	T	0.09642	0.0237	L	0.47716	1.5	0.27586	N	0.94942	P;P	0.40731	0.728;0.59	B;B	0.36244	0.22;0.22	T	0.18745	-1.0327	10	0.87932	D	0	.	7.7705	0.29006	0.0:0.0988:0.0:0.9012	.	45;45	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	Q	45	ENSP00000262753:K45Q;ENSP00000362238:K45Q	ENSP00000262753:K45Q	K	-	1	0	POF1B	84520983	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	2.044000	0.41241	1.903000	0.55091	0.437000	0.28790	AAA		0.577	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		G	84634327	T	G	84634327	3	3	130	1	0	0	0	0	1	0	0	0	12182	1850	64	5	1700	5	POF1B	23	84634327	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	68793356	84634327	70636233	84	8922											
THOC2	57187	broad.mit.edu	37	chrX	122748018	122748020	+	In_Frame_Del	DEL	GGA	GGA	-																															ccttactcttggacagtggtGgaggagtatgattaatgtag																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:122748018_122748020delGGA	ENST00000245838.8	-	34	4363_4365	c.4332_4334delTCC	c.(4330-4335)cctcca>cca	p.1444_1445PP>P	THOC2_ENST00000491737.1_In_Frame_Del_p.1329_1330PP>P|THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000355725.4_In_Frame_Del_p.1444_1445PP>P	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1444	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGACAGTGGTGGAGGAGTATGAT	0.355																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(4330-4335)cctcca>cca		Homo sapiens THO complex 2 (THOC2), mRNA.																																				SO:0001651	inframe_deletion	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122748018_122748020delGGA	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4332_4334delTCC	X.37:g.122748021_122748023delGGA	ENSP00000245838:p.Pro1446del					THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_In_Frame_Del_p.265_266PP>P	p.1444_1445PP>P	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			33	4364_4366	-			1444			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	In_Frame_Del	DEL	ENST00000245838.8	37	c.4332_4334delTCC	CCDS43988.1																																																																																				0.355	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			-	122748020	GGA	-	122748018	7	5	130	1	0	1	0	1	0	0	0	0	15862	1348	47	0	467	0	THOC2	23	122748018	In_Frame_Del	DEL	GGA	TCGA-14-0789-01A-01W-0424-08	38113691	122748018	32522542	85	8923											
STAG2	10735	broad.mit.edu	37	chrX	123176470	123176471	+	Frame_Shift_Ins	INS	-	-	A																															cagaactctgagataattcgINSaaaaatgactgaagaattcg																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:123176470_123176471insA	ENST00000371160.1	+	7	727_728	c.437_438insA	c.(436-441)cgaaaafs	p.RK146fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.RK146fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.RK146fs|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.RK146fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.RK146fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.RK77fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	146					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAGATAATTCGAAAAATGACTG	0.287																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(436-438)cgafs		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176470_123176471insA	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.442dupA	X.37:g.123176475_123176475dupA	ENSP00000360202:p.Arg146fs					STAG2_uc004etz.4_Frame_Shift_Ins_p.R146fs|STAG2_uc004eub.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004euc.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eud.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eue.3_Frame_Shift_Ins_p.R146fs	p.R146fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			6	841_842	+			146					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Ins	INS	ENST00000371160.1	37	c.437_438insA	CCDS14607.1																																																																																				0.287	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123176471	-	A	123176470	7	5	130	1	0	1	1	0	0	0	0	0	15242	1058	37	0	455	0	STAG2	23	123176470	Frame_Shift_Ins	INS	-	TCGA-14-0789-01A-01W-0424-08	428452	123176470	32094090	86	8924											
ZCCHC17	51538	broad.mit.edu	37	chr1	31810124	31810125	+	Splice_Site	INS	-	-	A																															aagcttattggccgagaggtINSaaagttctgtgcggctccct																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:31810124_31810125insA	ENST00000373714.1	+	4	486		c.e4+2		ZCCHC17_ENST00000479629.1_Splice_Site|ZCCHC17_ENST00000546109.1_Splice_Site|ZCCHC17_ENST00000344147.5_Splice_Site|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000422613.2_Splice_Site	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17							cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GGCCGAGAGGTAAAGTTCTGTG	0.426																																						uc001bsp.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.e4+2		Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.																																				SO:0001630	splice_region_variant	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31810124_31810125insA	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.225+2->A	1.37:g.31810127_31810127dupA						ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice	p.E75_splice	NM_016505	NP_057589	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	4	361	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	75			S1 motif.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Splice_Site	INS	ENST00000373714.1	37	c.225_splice	CCDS341.1																																																																																				0.426	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505	Intron	A	31810125	-	A	31810124	8	5	131	1	0	1	1	0	0	0	1	0	17582	1652	57	0	237	0	ZCCHC17	1	31810124	Splice_Site	INS	-	TCGA-14-0790-01B-01D-1494-08		31810124	217440497	1	8925											
RPL5	6125	broad.mit.edu	37	chr1	93300358	93300358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttatgcccgtatagaggGggatatgatagtctgcgcag	9	11	14	7	2	1	2	0	1	1	1	1	3	1	3	1	2	3	3	1	2	5	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:93300358G>A	ENST00000370321.3	+	4	302	c.212G>A	c.(211-213)gGg>gAg	p.G71E	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CGTATAGAGGGGGATATGATA	0.413																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(211-213)gGg>gAg		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							118	123	122					1																	93300358		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300358G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.212G>A	1.37:g.93300358G>A	ENSP00000359345:p.Gly71Glu					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G21E|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	p.G71E	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	3	290	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	71					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.212G>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437247	0.96168	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.81078	-1.45	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	H	0.98664	4.295	0.80722	D	1	D	0.60160	0.987	D	0.68943	0.961	D	0.95698	0.8746	10	0.66056	D	0.02	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	71	P46777	RL5_HUMAN	E	21;71;21	ENSP00000359345:G71E	ENSP00000359338:G21E	G	+	2	0	RPL5	93072946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.849000	0.99510	2.398000	0.81561	0.655000	0.94253	GGG		0.413	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		A	93300358	G	A	93300358	3	1	131	1	0	0	0	0	1	0	0	0	13597	1232	43	3	226	3	RPL5	1	93300358	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	61490234	93300358	155950263	2	8926											
BCAR3	8412	broad.mit.edu	37	chr1	94032953	94032953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtttttttcccacatgtCggttccttcaaaagtcacag	8	15	7	11	2	2	0	2	0	0	0	6	0	4	0	2	1	0	2	2	1	2	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:94032953C>T	ENST00000370244.1	-	13	2470	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	BCAR3_ENST00000539242.1_Missense_Mutation_p.D404N|BCAR3_ENST00000260502.6_Missense_Mutation_p.D728N|BCAR3_ENST00000370243.1_Missense_Mutation_p.D728N|BCAR3_ENST00000370247.3_Missense_Mutation_p.D637N	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	728	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCCACATGTCGGTTCCTTCA	0.512																																						uc001dpz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2182-2184)Gac>Aac		Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.							151	133	139					1																	94032953		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032953C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2182G>A	1.37:g.94032953C>T	ENSP00000359264:p.Asp728Asn					BCAR3_uc001dqa.3_Missense_Mutation_p.D728N|BCAR3_uc001dqb.3_Missense_Mutation_p.D728N|BCAR3_uc001dpx.4_Missense_Mutation_p.D404N|BCAR3_uc001dpy.3_Missense_Mutation_p.D637N	p.D728N	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	10	2457	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	728			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2182G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	37	6.053673	0.97241	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.045463	0.85682	D	0.000000	T	0.46347	0.1388	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.993;0.998	P;P	0.61940	0.853;0.896	T	0.25328	-1.0135	10	0.46703	T	0.11	-14.1535	20.1577	0.98120	0.0:1.0:0.0:0.0	.	728;637	O75815;Q5TEW3	BCAR3_HUMAN;.	N	637;728;728;728;404	ENSP00000359267:D637N;ENSP00000260502:D728N;ENSP00000359264:D728N;ENSP00000359263:D728N;ENSP00000441343:D404N	ENSP00000260502:D728N	D	-	1	0	BCAR3	93805541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	GAC		0.512	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			T	94032953	C	T	94032953	3	4	131	1	0	0	0	0	1	0	0	0	1349	884	31	2	303	2	BCAR3	1	94032953	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	732595	94032953	155217668	3	8927											
S1PR1	1901	broad.mit.edu	37	chr1	101705315	101705317	+	In_Frame_Del	DEL	ATT	ATT	-																															tggcgctgctcaagaccgtaAttatcgtcctgagcgtcttc																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:101705315_101705317delATT	ENST00000305352.6	+	2	1150_1152	c.775_777delATT	c.(775-777)attdel	p.I260del		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	260					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CAAGACCGTAATTATCGTCCTGA	0.591																																						uc021oqt.1																			0		p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(775-777)attdel		Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.																																				SO:0001651	inframe_deletion	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705315_101705317delATT	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.775_777delATT	1.37:g.101705315_101705317delATT	ENSP00000305416:p.Ile260del					S1PR1_uc001dud.2_In_Frame_Del_p.I260del|S1PR1_uc009weg.2_In_Frame_Del_p.I260del	p.I260del	NM_001400	NP_001391	P21453	S1PR1_HUMAN			0	775_777	+			260					D3DT66|Q9BYY4|Q9NYN8	In_Frame_Del	DEL	ENST00000305352.6	37	c.775_777delATT	CCDS777.1																																																																																				0.591	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		-	101705317	ATT	-	101705315	7	5	131	1	0	1	0	1	0	0	0	0	13793	101	4	0	777	0	S1PR1	1	101705315	In_Frame_Del	DEL	ATT	TCGA-14-0790-01B-01D-1494-08	7672362	101705315	147545306	4	8928											
CD58	965	broad.mit.edu	37	chr1	117078713	117078713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatatactggttgagttacGtttacattgctccataggac	11	15	8	7	1	0	1	0	1	0	0	1	2	1	2	1	2	4	4	1	2	6	9			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:117078713G>A	ENST00000369489.5	-	3	568	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_ENST00000369487.3_Missense_Mutation_p.R168C|CD58_ENST00000457047.2_Missense_Mutation_p.R168C	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	168					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343																																						uc001egm.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(502-504)Cgt>Tgt		Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.							132	122	126					1																	117078713		2203	4300	6503	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078713G>A	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.502C>T	1.37:g.117078713G>A	ENSP00000358501:p.Arg168Cys					CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C	p.R168C	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	2	623	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	168			Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.502C>T	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	8.449	0.852656	0.17106	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.45668	0.89;0.89;0.89	3.36	-4.7	0.03288	.	9.108110	0.00166	N	0.000000	T	0.09730	0.0239	N	0.19112	0.55	0.09310	N	1	P;P;P	0.44044	0.825;0.825;0.825	B;B;B	0.36959	0.157;0.237;0.157	T	0.15954	-1.0419	10	0.56958	D	0.05	-0.9774	6.1165	0.20130	0.0:0.4268:0.3314:0.2417	.	168;168;168	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	C	168	ENSP00000358501:R168C;ENSP00000409080:R168C;ENSP00000358499:R168C	ENSP00000358499:R168C	R	-	1	0	CD58	116880236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.763000	0.04740	-1.152000	0.02832	-0.262000	0.10625	CGT		0.343	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		A	117078713	G	A	117078713	3	1	131	1	0	0	0	0	1	0	0	0	3025	1145	40	1	270	1	CD58	1	117078713	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	15373398	117078713	132171908	5	8929											
SPAG17	200162	broad.mit.edu	37	chr1	118623774	118623774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctctcctgctctaacAgctgtctattatcagggact	8	14	8	11	0	4	1	1	1	3	0	5	2	4	2	1	1	4	3	1	1	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118623774A>T	ENST00000336338.5	-	15	2224	c.2159T>A	c.(2158-2160)cTg>cAg	p.L720Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	720						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCTAACAGCTGTCTATT	0.443																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2158-2160)cTg>cAg		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							183	167	172					1																	118623774		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623774A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2159T>A	1.37:g.118623774A>T	ENSP00000337804:p.Leu720Gln					SPAG17_uc021oss.1_Missense_Mutation_p.L41Q	p.L720Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	2227	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	720					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2159T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	7.235	0.600024	0.13939	.	.	ENSG00000155761	ENST00000336338	T	0.19532	2.14	4.04	-0.715	0.11215	.	1.740000	0.02635	N	0.104774	T	0.10852	0.0265	L	0.40543	1.245	0.09310	N	1	P	0.47677	0.899	P	0.48141	0.568	T	0.17561	-1.0365	10	0.54805	T	0.06	.	7.1807	0.25770	0.5059:0.0:0.4941:0.0	.	720	Q6Q759	SPG17_HUMAN	Q	720	ENSP00000337804:L720Q	ENSP00000337804:L720Q	L	-	2	0	SPAG17	118425297	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.272000	0.08560	-0.129000	0.11620	0.482000	0.46254	CTG		0.443	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118623774	A	T	118623774	3	4	131	1	0	0	0	0	1	0	0	0	14979	188	7	5	4648	5	SPAG17	1	118623774	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	1545061	118623774	130626847	6	8930											
SPAG17	200162	broad.mit.edu	37	chr1	118628591	118628591	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattgtagctagacgtttAgtgttgttccatggtggggg	7	15	15	4	1	0	2	0	1	0	1	1	2	1	2	1	3	1	5	1	3	4	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118628591A>C	ENST00000336338.5	-	13	1781	c.1716T>G	c.(1714-1716)acT>acG	p.T572T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	572						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGACGTTTAGTGTTGTTCC	0.388																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1714-1716)acT>acG		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							169	166	167					1																	118628591		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118628591A>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1716T>G	1.37:g.118628591A>C							p.T572T	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	12	1784	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	572					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.1716T>G	CCDS899.1																																																																																				0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		C	118628591	A	C	118628591	2	2	131	1	0	0	0	0	0	0	0	1	14979	407	15	5		5	SPAG17	1	118628591	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08	4817	118628591	130622030	7	8931											
SPTA1	6708	broad.mit.edu	37	chr1	158655079	158655079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagtcaacacttcctgaCgcctctcctggatctcttct	7	12	6	16	2	4	1	1	1	3	0	7	3	5	2	4	1	1	0	4	1	1	2	rs121918641	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:158655079C>T	ENST00000368147.4	-	2	263	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	28			R -> C (in EL2). {ECO:0000269|PubMed:1679439}.|R -> H (in EL2; Corbeil; dbSNP:rs28934004). {ECO:0000269|PubMed:1679439}.|R -> L (in EL2). {ECO:0000269|PubMed:1679439}.|R -> S (in EL2; dbSNP:rs28934005). {ECO:0000269|PubMed:1679439, ECO:0000269|PubMed:1878597}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTTCCTGACGCCTCTCCTG	0.458													C|||	2	0.000399361	0.0015	0	5008	,	,		18097	0		0	False		,,,				2504	0					uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	GRCh37	CM900201|CM910357	SPTA1	M	rs121918641	c.(82-84)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							145	145	145					1																	158655079		1912	4127	6039	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655079C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.83G>A	1.37:g.158655079C>T	ENSP00000357129:p.Arg28His						p.R28H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			1	282	-	all_hematologic(112;0.0378)		28		R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.83G>A	CCDS41423.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	33	5.194717	0.94960	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	4.98	4.98	0.66077	.	0.000000	0.28790	N	0.014122	T	0.49712	0.1573	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.43572	-0.9383	10	0.15066	T	0.55	.	17.0071	0.86396	0.0:1.0:0.0:0.0	rs28934004	28	P02549	SPTA1_HUMAN	H	28	ENSP00000357130:R28H;ENSP00000357129:R28H	ENSP00000357129:R28H	R	-	2	0	SPTA1	156921703	1.000000	0.71417	0.358000	0.25811	0.995000	0.86356	7.059000	0.76684	2.594000	0.87642	0.467000	0.42956	CGT		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158655079	C	T	158655079	3	4	131	1	0	0	0	0	1	0	0	0	15115	536	19	1	7380	1	SPTA1	1	158655079	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	40026488	158655079	90595542	8	8932											
LEFTY2	7044	broad.mit.edu	37	chr1	226127121	226127121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccccaagcccggctggcGccccctgcgaggcaaagcgg	6	3	14	18	4	0	0	0	0	0	0	1	1	1	0	5	4	3	3	5	4	2	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:226127121G>A	ENST00000366820.5	-	3	1025	c.677C>T	c.(676-678)gCg>gTg	p.A226V	LEFTY2_ENST00000474493.1_5'Flank|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Missense_Mutation_p.A192V	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	226					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCGGCTGGCGCCCCCTGCGA	0.701																																					Colon(172;116 2643 9098 43333)	uc001hpt.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(676-678)gCg>gTg		Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.							11	13	12					1																	226127121		2194	4282	6476	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127121G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.677C>T	1.37:g.226127121G>A	ENSP00000355785:p.Ala226Val					LEFTY2_uc010pvk.2_Missense_Mutation_p.A192V|LEFTY2_uc009xek.2_Intron	p.A226V	NM_003240	NP_003231	O00292	LFTY2_HUMAN			2	920	-	Breast(184;0.197)		226					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.677C>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	9.141	1.013759	0.19277	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68181	-0.11;-0.31	3.91	2.96	0.34315	.	0.527879	0.21087	N	0.080392	T	0.44871	0.1314	N	0.14661	0.345	0.09310	N	1	B;B	0.32543	0.375;0.375	B;B	0.22386	0.039;0.039	T	0.25363	-1.0134	10	0.36615	T	0.2	.	12.4016	0.55416	0.0:0.0:0.8299:0.1701	.	192;226	E9PDM4;O00292	.;LFTY2_HUMAN	V	192;226	ENSP00000388009:A192V;ENSP00000355785:A226V	ENSP00000355785:A226V	A	-	2	0	LEFTY2	224193744	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	1.364000	0.34171	0.732000	0.32470	0.561000	0.74099	GCG		0.701	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		A	226127121	G	A	226127121	3	1	131	1	0	0	0	0	1	0	0	0	8716	1087	38	1	431	1	LEFTY2	1	226127121	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	67472042	226127121	23123500	9	8933											
KIDINS220	57498	broad.mit.edu	37	chr2	8943255	8943255	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaataagtgcagtcattgaAttctaaaaacaacaacaaca	21	8	4	8	0	2	1	1	1	1	0	2	1	2	1	0	0	5	1	0	0	9	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:8943255A>G	ENST00000256707.3	-	8	787	c.606T>C	c.(604-606)aaT>aaC	p.N202N	KIDINS220_ENST00000319688.5_Silent_p.N203N|KIDINS220_ENST00000473731.1_Silent_p.N202N|KIDINS220_ENST00000427284.1_Silent_p.N202N|KIDINS220_ENST00000418530.1_Silent_p.N160N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	202					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCATTGAATTCTAAAAAC	0.299																																						uc002qzc.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(604-606)aaT>aaC		Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.							65	54	58					2																	8943255		1826	4079	5905	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8943255A>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.606T>C	2.37:g.8943255A>G						KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	p.N202N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			7	788	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		202					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.606T>C	CCDS42650.1																																																																																				0.299	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		G	8943255	A	G	8943255	2	3	131	1	0	0	0	0	0	0	0	1	8271	98	4	4		4	KIDINS220	2	8943255	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08		8943255	234256118	10	8934											
IL18RAP	8807	broad.mit.edu	37	chr2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaagagccagagtctctaCctcatctcgtgaaaaaagct	13	9	7	12	1	3	3	1	1	2	2	6	3	4	3	3	0	3	1	3	0	5	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:103068411C>T	ENST00000264260.2	+	12	2159	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P382S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	524	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P524S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418																																						uc002tbx.3																			1	Substitution - Missense(1)	p.P524S(2)	urinary_tract(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1570-1572)Cct>Tct		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							114	120	118					2																	103068411		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068411C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1570C>T	2.37:g.103068411C>T	ENSP00000264260:p.Pro524Ser					IL18RAP_uc010fiz.3_Missense_Mutation_p.P382S	p.P524S	NM_003853	NP_003844	O95256	I18RA_HUMAN			11	2054	+			524			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1570C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724158	0.89298	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09255	3.0;3.0	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.42426	0.1202	M	0.87180	2.865	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.26360	-1.0105	10	0.52906	T	0.07	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	524	O95256	I18RA_HUMAN	S	524;382	ENSP00000264260:P524S;ENSP00000387201:P382S	ENSP00000264260:P524S	P	+	1	0	IL18RAP	102434843	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.677000	0.68142	2.857000	0.98124	0.650000	0.86243	CCT		0.418	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103068411	C	T	103068411	3	4	131	1	0	0	0	0	1	0	0	0	7648	507	18	3	1608	3	IL18RAP	2	103068411	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	94125156	103068411	140130962	11	8935											
LIMS1	3987	broad.mit.edu	37	chr2	109292448	109292448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggcccatcgaagggcgCgtggtgaacgctatgggcaa	9	5	16	11	6	0	1	0	1	0	0	1	3	0	1	1	4	1	2	1	4	4	1	rs111779374		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:109292448C>T	ENST00000393310.1	+	6	776	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000544547.1_Silent_p.R215R|LIMS1_ENST00000409441.1_Silent_p.R240R|AC010095.5_ENST00000411710.1_RNA	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		19736	0		0	False		,,,				2504	0					uc002teg.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(607-609)cgC>cgT		Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.							43	38	40					2																	109292448		2203	4300	6503	SO:0001819	synonymous_variant	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292448C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.609C>T	2.37:g.109292448C>T						LIMS1_uc002tel.3_Silent_p.R215R|LIMS1_uc002teh.3_Silent_p.R203R|LIMS1_uc002tei.3_Silent_p.R207R|LIMS1_uc002tej.3_Silent_p.R240R|LIMS1_uc002tek.4_Silent_p.R265R	p.R203R	NM_004987	NP_004978	P48059	LIMS1_HUMAN			5	738	+			203			LIM zinc-binding 4.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	37	c.609C>T	CCDS2078.1																																																																																				0.537	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		T	109292448	C	T	109292448	2	4	131	1	0	0	0	0	0	0	0	1	8803	755	27	1		1	LIMS1	2	109292448	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	6224037	109292448	133906925	12	8936											
DPP10	57628	broad.mit.edu	37	chr2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaagtagaggactccGtcttgcagtacgcggcctgg	8	8	13	12	3	1	2	0	0	1	2	3	3	3	3	3	3	2	3	3	3	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:116447456G>A	ENST00000410059.1	+	7	1015	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	DPP10_ENST00000310323.8_Missense_Mutation_p.V172I|DPP10_ENST00000393147.2_Missense_Mutation_p.V183I|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.V129I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(547-549)Gtc>Atc		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							84	91	89					2																	116447456		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116447456G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.535G>A	2.37:g.116447456G>A	ENSP00000386565:p.Val179Ile					DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	p.V183I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			6	568	+			179					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.547G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164856	0.38217	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	-2.02	0.07388	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.22859	0.0552	L	0.55481	1.735	0.24648	N	0.993537	B;B;B;B	0.22800	0.027;0.075;0.034;0.034	B;B;B;B	0.20955	0.013;0.018;0.032;0.022	T	0.33650	-0.9860	10	0.15499	T	0.54	-12.1613	11.1686	0.48558	0.491:0.0:0.509:0.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	179;129;175;183;172;129	ENSP00000386565:V179I;ENSP00000387038:V129I;ENSP00000376854:V175I;ENSP00000376855:V183I;ENSP00000309066:V172I	ENSP00000309066:V172I	V	+	1	0	DPP10	116163926	0.323000	0.24643	0.908000	0.35775	0.965000	0.64279	0.668000	0.25127	-0.308000	0.08792	-0.237000	0.12165	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116447456	G	A	116447456	3	1	131	1	0	0	0	0	1	0	0	0	4727	1145	40	1	732	1	DPP10	2	116447456	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	7155008	116447456	126751917	13	8937											
CYP8B1	1582	broad.mit.edu	37	chr3	42916850	42916850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagactccagcctttggaCgtcagcattacaaaggacag	12	8	9	12	1	1	1	1	0	0	1	3	3	3	3	3	2	3	1	3	2	2	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:42916850C>T	ENST00000316161.4	-	1	783	c.459G>A	c.(457-459)acG>acA	p.T153T	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Silent_p.T153T	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	153					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGCCTTTGGACGTCAGCATTA	0.512																																						uc003cmh.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(457-459)acG>acA		Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.							89	81	84					3																	42916850		2203	4300	6503	SO:0001819	synonymous_variant	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916850C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.459G>A	3.37:g.42916850C>T						CCBP2_uc003cmg.3_Intron	p.T153T	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	0	784	-			153					B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP	ENST00000316161.4	37	c.459G>A	CCDS2707.1																																																																																				0.512	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		T	42916850	C	T	42916850	2	4	131	1	0	0	0	0	0	0	0	1	4198	523	19	1		1	CYP8B1	3	42916850	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08		42916850	155105580	14	8938											
MYLK	4638	broad.mit.edu	37	chr3	123376130	123376130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggctagttccttccaCgtcttgttggctgagtccca	5	14	10	12	1	1	1	0	1	1	0	4	1	4	1	3	2	0	4	3	2	1	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:123376130C>T	ENST00000475616.1	-	21	4130	c.4131G>A	c.(4129-4131)acG>acA	p.T1377T	MYLK_ENST00000359169.1_Silent_p.T1377T|MYLK_ENST00000346322.5_Silent_p.T1308T|MYLK_ENST00000360304.3_Silent_p.T1377T|MYLK_ENST00000360772.3_Silent_p.T1377T|MYLK_ENST00000354792.5_Silent_p.T177T			Q15746	MYLK_HUMAN	myosin light chain kinase	1377	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTCCTTCCACGTCTTGTTGG	0.542																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4129-4131)acG>acA		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							171	146	154					3																	123376130		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123376130C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4131G>A	3.37:g.123376130C>T						MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.T177T|MYLK_uc011bjw.2_Silent_p.T1377T|MYLK_uc003egp.3_Silent_p.T1308T|MYLK_uc003egq.3_Silent_p.T1377T|MYLK_uc003egr.3_Silent_p.T1308T|MYLK_uc003egs.3_Silent_p.T1201T	p.T1377T	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	23	4413	-		Lung NSC(201;0.0496)	1377			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.4131G>A	CCDS46896.1																																																																																				0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123376130	C	T	123376130	2	4	131	1	0	0	0	0	0	0	0	1	10056	523	19	1		1	MYLK	3	123376130	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	80459280	123376130	74646300	15	8939											
RTP1	132112	broad.mit.edu	37	chr3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcatccacgtggccagcCgccaggacaaccggcggcac	9	2	12	18	5	0	0	0	0	0	0	1	1	1	1	6	4	2	2	6	4	1	0	rs372732386		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:186917604C>T	ENST00000312295.4	+	2	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682																																						uc003frg.3																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(538-540)Cgc>Tgc		Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.		C	CYS/ARG	0,4400		0,0,2200	24	25	25		538	4.8	1	3		25	1,8583		0,1,4291	no	missense	RTP1	NM_153708.2	180	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	180/264	186917604	1,12983	2200	4292	6492	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917604C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.538C>T	3.37:g.186917604C>T	ENSP00000311712:p.Arg180Cys						p.R180C	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	568	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		180						Missense_Mutation	SNP	ENST00000312295.4	37	c.538C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746024	0.69418	0.0	1.16E-4	ENSG00000175077	ENST00000312295	T	0.23950	1.88	5.7	4.82	0.62117	.	0.381494	0.30649	N	0.009169	T	0.33731	0.0873	L	0.44542	1.39	0.39746	D	0.97181	D	0.61697	0.99	P	0.54060	0.741	T	0.12192	-1.0557	10	0.52906	T	0.07	.	12.2521	0.54603	0.1691:0.8309:0.0:0.0	.	180	P59025	RTP1_HUMAN	C	180	ENSP00000311712:R180C	ENSP00000311712:R180C	R	+	1	0	RTP1	188400298	0.604000	0.26932	1.000000	0.80357	0.963000	0.63663	0.710000	0.25748	1.403000	0.46800	0.561000	0.74099	CGC		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		T	186917604	C	T	186917604	3	4	131	1	0	0	0	0	1	0	0	0	13733	652	23	2	544	2	RTP1	3	186917604	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	63541474	186917604	11104826	16	8940											
HPSE	10855	broad.mit.edu	37	chr4	84223384	84223384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgccattaacaccttggtgCccaccaatttcttgaacaga	11	12	6	12	0	1	2	0	1	1	1	1	2	1	2	4	1	4	0	4	1	3	5	rs368692638		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:84223384C>T	ENST00000405413.2	-	11	1380	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	HPSE_ENST00000512196.1_Missense_Mutation_p.G341D|HPSE_ENST00000311412.5_Missense_Mutation_p.G415D|HPSE_ENST00000513463.1_Missense_Mutation_p.G357D	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	415					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	CACCTTGGTGCCCACCAATTT	0.403																																						uc003hoj.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1243-1245)gGc>gAc		Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	Heparin(DB01109)						151	129	137					4																	84223384		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84223384C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1244G>A	4.37:g.84223384C>T	ENSP00000384262:p.Gly415Asp					HPSE_uc003hoi.3_Missense_Mutation_p.G357D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.G158D|HPSE_uc003hok.4_Missense_Mutation_p.G415D|HPSE_uc011cct.2_Missense_Mutation_p.G341D	p.G415D	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	9	1343	-		Hepatocellular(203;0.114)	415					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1244G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435556	0.83885	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.76060	-0.8;-0.8;-0.99;-0.69	4.92	4.92	0.64577	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89382	0.6699	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	P;D;D;D	0.97110	0.795;1.0;1.0;1.0	D	0.91869	0.5506	10	0.87932	D	0	-12.6817	17.0633	0.86553	0.0:1.0:0.0:0.0	.	341;357;357;415	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	D	415;415;341;357	ENSP00000308107:G415D;ENSP00000384262:G415D;ENSP00000423265:G341D;ENSP00000421365:G357D	ENSP00000308107:G415D	G	-	2	0	HPSE	84442408	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.044000	0.71012	2.567000	0.86603	0.655000	0.94253	GGC		0.403	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		T	84223384	C	T	84223384	3	4	131	1	0	0	0	0	1	0	0	0	7344	739	26	3	399	3	HPSE	4	84223384	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		84223384	106930892	17	8941											
ZFP42	132625	broad.mit.edu	37	chr4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactttaatttgcgtaCgcacgtgcgcatccacacgg	8	11	10	12	5	1	0	0	0	1	0	2	1	2	1	1	2	3	3	1	2	2	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:188924752C>T	ENST00000326866.4	+	4	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_ENST00000509524.1_Missense_Mutation_p.T264M	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	264					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483																																						uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(790-792)aCg>aTg		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							78	77	77					4																	188924752		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924752C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.791C>T	4.37:g.188924752C>T	ENSP00000317686:p.Thr264Met					ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1199	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	264					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.791C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507615	0.44558	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.50813	0.73;0.73	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.38531	1.155	0.35697	D	0.815328	D	0.89917	1.0	D	0.81914	0.995	T	0.64989	-0.6277	10	0.59425	D	0.04	.	10.5007	0.44804	0.0:0.9042:0.0:0.0958	.	264	Q96MM3	ZFP42_HUMAN	M	264	ENSP00000317686:T264M;ENSP00000424662:T264M	ENSP00000317686:T264M	T	+	2	0	ZFP42	189161746	1.000000	0.71417	0.023000	0.16930	0.009000	0.06853	7.447000	0.80620	1.445000	0.47624	0.655000	0.94253	ACG		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		T	188924752	C	T	188924752	3	4	131	1	0	0	0	0	1	0	0	0	17647	536	19	1	793	1	ZFP42	4	188924752	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	104701368	188924752	2229524	18	8942											
AHRR	57491	broad.mit.edu	37	chr5	422883	422883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttatgactacatccacGtggacgaccgccaggacttc	11	9	8	13	3	0	1	0	1	0	0	2	4	1	3	3	2	1	0	3	2	2	4	rs180979445		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:422883G>A	ENST00000505113.1	+	6	537	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AHRR_ENST00000316418.5_Missense_Mutation_p.V165M|AHRR_ENST00000506456.1_Missense_Mutation_p.V21M|AHRR_ENST00000512529.1_Missense_Mutation_p.V11M	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	165	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTACATCCACGTGGACGACCG	0.547													G|||	1	0.000199681	0	0	5008	,	,		18937	0		0.001	False		,,,				2504	0					uc003jav.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(493-495)Gtg>Atg		Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	0,3980		0,0,1990	73	81	79		493,493	4.8	1	5		79	1,8297		0,1,4148	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	21,21	0,1,6138	AA,AG,GG		0.0121,0.0,0.0081	probably-damaging,probably-damaging	165/702,165/720	422883	1,12277	1990	4149	6139	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422883G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.493G>A	5.37:g.422883G>A	ENSP00000424601:p.Val165Met					AHRR_uc003jaw.3_Missense_Mutation_p.V165M|AHRR_uc010isy.3_Missense_Mutation_p.V11M|AHRR_uc010isz.3_Missense_Mutation_p.V161M|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Missense_Mutation_p.V21M	p.V165M	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	536	+			165			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.493G>A	CCDS56355.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.70	2.910269	0.52439	0.0	1.21E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000514523;ENST00000506456	T;T;T;T	0.26223	2.28;2.28;1.75;1.76	4.76	4.76	0.60689	PAS (2);PAS fold (1);	0.057254	0.64402	D	0.000002	T	0.47322	0.1439	L	0.60455	1.87	0.45747	D	0.998649	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.995;0.983	T	0.48570	-0.9024	10	0.72032	D	0.01	.	15.254	0.73571	0.0:0.0:1.0:0.0	.	21;165;165	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	M	165;165;11;11;21	ENSP00000424601:V165M;ENSP00000323816:V165M;ENSP00000424880:V11M;ENSP00000426932:V21M	ENSP00000323816:V165M	V	+	1	0	AHRR	475883	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.849000	0.75414	2.164000	0.68074	0.655000	0.94253	GTG		0.547	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		A	422883	G	A	422883	3	1	131	1	0	0	0	0	1	0	0	0	417	1145	40	1	515	1	AHRR	5	422883	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		422883	180492377	19	8943											
MAP3K1	4214	broad.mit.edu	37	chr5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgcagcagatagggcCtaactctttcctgattggag	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	3	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:56160697C>T	ENST00000399503.3	+	4	971	c.971C>T	c.(970-972)cCt>cTt	p.P324L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	324					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(970-972)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							110	109	109					5																	56160697		1888	4111	5999	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160697C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.971C>T	5.37:g.56160697C>T	ENSP00000382423:p.Pro324Leu						p.P324L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	1472	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	324						Missense_Mutation	SNP	ENST00000399503.3	37	c.971C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922032	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.72167	-0.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86368	0.1721	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	324	Q13233	M3K1_HUMAN	L	324	ENSP00000382423:P324L	ENSP00000382423:P324L	P	+	2	0	MAP3K1	56196454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.764000	0.74960	2.737000	0.93849	0.563000	0.77884	CCT		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56160697	C	T	56160697	3	4	131	1	0	0	0	0	1	0	0	0	9243	681	24	3	985	3	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	55737814	56160697	124754563	20	8944											
PIK3R1	5295	broad.mit.edu	37	chr5	67576379	67576379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaagctccgaagaatatAttcagctattgaagaagctt	16	11	7	7	1	1	3	1	1	0	2	2	4	2	3	1	0	4	3	1	0	9	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:67576379A>T	ENST00000521381.1	+	6	1274	c.658A>T	c.(658-660)Att>Ttt	p.I220F	PIK3R1_ENST00000274335.5_Missense_Mutation_p.I220F|PIK3R1_ENST00000396611.1_Missense_Mutation_p.I220F|PIK3R1_ENST00000521657.1_Missense_Mutation_p.I220F	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	220	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAAGAATATATTCAGCTATT	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(658-660)Att>Ttt		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						117	134	128					5																	67576379		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67576379A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.658A>T	5.37:g.67576379A>T	ENSP00000428056:p.Ile220Phe	TCGA GBM(4;<1E-08)					p.I220F	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1238	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	220			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.658A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.967077	0.34754	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.61	1.88	0.25563	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.558043	0.19917	N	0.103165	T	0.32315	0.0825	L	0.35542	1.07	0.37637	D	0.921908	B	0.20368	0.044	B	0.27500	0.08	T	0.16897	-1.0387	10	0.49607	T	0.09	-0.1039	3.1747	0.06564	0.3681:0.2457:0.3861:0.0	.	220	P27986	P85A_HUMAN	F	220;220;220;220;122	ENSP00000428056:I220F;ENSP00000429277:I220F;ENSP00000379855:I220F;ENSP00000274335:I220F;ENSP00000428566:I122F	ENSP00000274335:I220F	I	+	1	0	PIK3R1	67612135	0.912000	0.30974	0.275000	0.24674	0.565000	0.35776	3.558000	0.53749	0.387000	0.25024	-0.609000	0.04063	ATT		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67576379	A	T	67576379	3	4	131	1	0	0	0	0	1	0	0	0	11918	449	16	5	676	5	PIK3R1	5	67576379	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	11415682	67576379	113338881	21	8945											
ZNF608	57507	broad.mit.edu	37	chr5	123984804	123984804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctctcatctccaggtCacttgtcggtgactcacaaa	8	10	7	16	1	4	1	3	1	2	0	7	1	4	1	3	2	0	0	3	2	1	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:123984804C>A	ENST00000306315.5	-	4	1708	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	425							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTCCAGGTCACTTGTCGGT	0.552																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1273-1275)Gac>Tac		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.							23	25	24					5																	123984804		2199	4282	6481	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984804C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1273G>T	5.37:g.123984804C>A	ENSP00000307746:p.Asp425Tyr					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	p.D425Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	3	1456	-		all_cancers(142;0.186)|Prostate(80;0.081)	425					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1273G>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703756	0.88924	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.65916	-0.18	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82234	-0.0558	10	0.87932	D	0	-28.2745	19.1926	0.93672	0.0:1.0:0.0:0.0	.	425	Q9ULD9	ZN608_HUMAN	Y	425	ENSP00000307746:D425Y	ENSP00000307746:D425Y	D	-	1	0	ZNF608	124012703	1.000000	0.71417	0.955000	0.39395	0.969000	0.65631	7.802000	0.85969	2.537000	0.85549	0.544000	0.68410	GAC		0.552	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		A	123984804	C	A	123984804	3	1	131	1	0	0	0	0	1	0	0	0	18031	826	29	5	3289	5	ZNF608	5	123984804	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	56408425	123984804	56930456	22	8946											
FBXO38	81545	broad.mit.edu	37	chr5	147781654	147781654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagagtaaggggccatgaGgcttttagcattccaggagt	11	9	14	7	1	0	2	0	1	0	1	1	4	1	3	2	4	1	3	2	4	3	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(370-372)gaG>gaA		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							143	136	138					5																	147781654		2203	4299	6502	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147781654G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.372G>A	5.37:g.147781654G>A						FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	p.E124E	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	492	+			124					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.372G>A																																																																																					0.448	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		A	147781654	G	A	147781654	2	1	131	1	0	0	0	0	0	0	0	1	5746	991	35	3		3	FBXO38	5	147781654	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	23796850	147781654	33133606	23	8947											
NDUFAF4	29078	broad.mit.edu	37	chr6	97344693	97344693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcttttcatctttaCgagcaatctctcctttaact	10	15	4	12	1	3	0	1	0	2	0	5	1	4	0	1	0	5	3	1	0	3	6	rs142963790		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:97344693C>T	ENST00000316149.7	-	2	246	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	56					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TTCATCTTTACGAGCAATCTC	0.333																																						uc003pow.3																			0				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						c.(166-168)cGt>cAt		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.							144	144	144					6																	97344693		2203	4300	6503	SO:0001583	missense	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97344693C>T	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"Mitochondrial respiratory chain complex assembly factors"	21034	protein-coding gene	gene with protein product		611776	"chromosome 6 open reading frame 66", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.167G>A	6.37:g.97344693C>T	ENSP00000358272:p.Arg56His					NDUFAF4_uc003pov.3_Non-coding_Transcript	p.R56H	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN			1	257	-			56					B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	c.167G>A	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648699	0.29336	.	.	ENSG00000123545	ENST00000316149	D	0.83837	-1.77	3.93	3.04	0.35103	.	0.554792	0.19181	N	0.120693	T	0.63920	0.2552	M	0.63428	1.95	0.09310	N	1	B	0.30973	0.302	B	0.25759	0.063	T	0.58962	-0.7543	10	0.52906	T	0.07	.	7.5543	0.27814	0.0:0.7315:0.0:0.2685	.	56	Q9P032	NDUF4_HUMAN	H	56	ENSP00000358272:R56H	ENSP00000358272:R56H	R	-	2	0	NDUFAF4	97451414	0.000000	0.05858	0.027000	0.17364	0.006000	0.05464	0.334000	0.19787	0.962000	0.38057	0.557000	0.71058	CGT		0.333	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		T	97344693	C	T	97344693	3	4	131	1	0	0	0	0	1	0	0	0	10277	536	19	1	368	1	NDUFAF4	6	97344693	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		97344693	73770374	24	8948											
GRM1	2911	broad.mit.edu	37	chr6	146755476	146755476	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagcaacttcagtacCgcgatcccggattttcacgc	8	10	10	13	4	3	0	3	0	0	0	4	2	4	1	2	2	3	2	2	2	2	4	rs200835963		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:146755476C>A	ENST00000282753.1	+	8	3364	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	GRM1_ENST00000361719.2_Silent_p.T1043T|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1043					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTTCAGTACCGCGATCCCGG	0.672																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3127-3129)acC>acA		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						32	37	35					6																	146755476		2201	4297	6498	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755476C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3129C>A	6.37:g.146755476C>A						GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.T1043T	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3599	+		Ovarian(120;0.0387)	1043					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.3129C>A	CCDS5209.1																																																																																				0.672	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146755476	C	A	146755476	2	1	131	1	0	0	0	0	0	0	0	1	6796	639	23	5		5	GRM1	6	146755476	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	49410783	146755476	24359591	25	8949											
TIAM2	26230	broad.mit.edu	37	chr6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctttcctttattacgCggaccactttaaactgtaca	10	14	6	11	2	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	5	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:155566797C>T	ENST00000461783.3	+	21	4857	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	TIAM2_ENST00000456877.2_Missense_Mutation_p.A507V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1195V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1219V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1195V|TIAM2_ENST00000528391.2_Missense_Mutation_p.A531V|TIAM2_ENST00000367174.2_Missense_Mutation_p.A571V|TIAM2_ENST00000275246.7_Missense_Mutation_p.A120V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1195V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1195	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1195V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTATTACGCGGACCACTTT	0.403																																						uc003qqb.3																			1	Substitution - Missense(1)	p.A1195V(2)|p.Y1194Y(1)	endometrium(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3583-3585)gCg>gTg		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							235	249	244					6																	155566797		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155566797C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3584C>T	6.37:g.155566797C>T	ENSP00000437188:p.Ala1195Val					TIAM2_uc003qqe.3_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.3_Missense_Mutation_p.A728V|TIAM2_uc003qqf.3_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.3_Missense_Mutation_p.A507V|TIAM2_uc003qqh.3_Missense_Mutation_p.A120V	p.A1195V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	20	4857	+		Ovarian(120;0.196)	1195			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3584C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616765	0.87359	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.050880	0.85682	D	0.000000	T	0.56247	0.1972	L	0.33339	1.005	0.58432	D	0.999994	P;D;D;D	0.76494	0.932;0.993;0.999;0.989	P;P;P;P	0.57960	0.593;0.799;0.83;0.594	T	0.49735	-0.8908	10	0.16420	T	0.52	.	19.2631	0.93975	0.0:1.0:0.0:0.0	.	531;1195;1219;1195	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	V	1195;1441;1195;1195;1195;571;1219;1195;507;531;120;133	ENSP00000437188:A1195V;ENSP00000434901:A1195V;ENSP00000407746:A1195V;ENSP00000327315:A1195V;ENSP00000356142:A571V;ENSP00000353528:A1219V;ENSP00000433348:A1195V;ENSP00000407183:A507V;ENSP00000435335:A531V;ENSP00000275246:A120V;ENSP00000431269:A133V	ENSP00000275246:A120V	A	+	2	0	TIAM2	155608489	1.000000	0.71417	0.530000	0.27963	0.989000	0.77384	7.794000	0.85869	2.540000	0.85666	0.650000	0.86243	GCG		0.403	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155566797	C	T	155566797	3	4	131	1	0	0	0	0	1	0	0	0	15888	768	27	1	3646	1	TIAM2	6	155566797	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	8811321	155566797	15548270	26	8950											
ZPBP	11055	broad.mit.edu	37	chr7	50097645	50097645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccacagtaggtttatattCgaggaaacatgtataaattc	14	14	7	6	1	0	0	0	0	0	0	3	2	1	1	1	2	1	3	1	2	7	9	rs148913753		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:50097645C>T	ENST00000046087.2	-	4	496	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_ENST00000419417.1_Missense_Mutation_p.E142K|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	143					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328																																						uc003tou.3																			0		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(427-429)Gaa>Aaa		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	99	99	99		424,427	3.7	0.9	7	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	ZPBP	NM_001159878.1,NM_007009.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	142/351,143/352	50097645	1,13005	2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097645C>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.427G>A	7.37:g.50097645C>T	ENSP00000046087:p.Glu143Lys					ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	p.E143K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	497	-	Glioma(55;0.08)|all_neural(89;0.245)		143					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.427G>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513442	0.27123	2.27E-4	0.0	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.77098	-1.07;-1.07	5.66	3.65	0.41850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.357292	0.24686	N	0.036431	T	0.71409	0.3336	L	0.57536	1.79	0.20307	N	0.999915	B;B	0.22211	0.066;0.066	B;B	0.17722	0.019;0.019	T	0.59600	-0.7424	9	.	.	.	-13.0798	11.4754	0.50295	0.1467:0.7263:0.127:0.0	.	142;143	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	K	143;142	ENSP00000046087:E143K;ENSP00000402071:E142K	.	E	-	1	0	ZPBP	50068191	0.075000	0.21258	0.886000	0.34754	0.965000	0.64279	0.412000	0.21131	1.365000	0.46057	0.591000	0.81541	GAA		0.328	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		T	50097645	C	T	50097645	3	4	131	1	0	0	0	0	1	0	0	0	18216	893	31	2	648	2	ZPBP	7	50097645	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		50097645	109041018	27	8951											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	131	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	5124177	55221822	103916841	28	8952											
EPO	2056	broad.mit.edu	37	chr7	100319586	100319586	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgtgtgcatttcagaCgggctgtgctgaacactgca	7	10	14	10	2	1	2	1	1	0	1	1	2	1	2	0	2	4	5	0	2	1	1	rs201069425		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:100319586C>T	ENST00000252723.2	+	3	342	c.161C>T	c.(160-162)aCg>aTg	p.T54M		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	54					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATTTCAGACGGGCTGTGCT	0.532																																						uc003uwi.3																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.e3-1		Homo sapiens erythropoietin (EPO), mRNA.	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						101	97	98					7																	100319586		2203	4300	6503	SO:0001630	splice_region_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100319586C>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.160-1C>T	7.37:g.100319586C>T						EPO_uc011kkc.1_Splice_Site_p.T54_splice	p.T54_splice	NM_000799	NP_000790	P01588	EPO_HUMAN			3	341	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		54					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.160_splice	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517662	0.13005	.	.	ENSG00000130427	ENST00000252723	T	0.37915	1.17	4.65	0.96	0.19631	Erythropoietin/thrombopoeitin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.346611	0.31554	N	0.007455	T	0.06600	0.0169	N	0.00066	-2.3	0.22213	N	0.999288	B;B	0.12013	0.005;0.005	B;B	0.04013	0.001;0.001	T	0.39901	-0.9591	10	0.49607	T	0.09	-31.4307	6.1253	0.20176	0.0:0.3187:0.0:0.6813	.	54;54	B7ZKK5;P01588	.;EPO_HUMAN	M	54	ENSP00000252723:T54M	ENSP00000252723:T54M	T	+	2	0	EPO	100157522	0.988000	0.35896	0.917000	0.36280	0.334000	0.28698	0.250000	0.18235	0.265000	0.21872	-0.339000	0.08088	ACG		0.532	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799	Missense_Mutation	T	100319586	C	T	100319586	5	4	131	1	0	0	0	0	0	0	1	0	5188	550	19	1	171	1	EPO	7	100319586	Splice_Site	SNP	C	TCGA-14-0790-01B-01D-1494-08	45097764	100319586	58819077	29	8953											
LAMB1	3912	broad.mit.edu	37	chr7	107575937	107575937	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgagcctgctcctcttGtttttccttgaactgggatt	5	15	11	10	1	1	1	0	1	1	0	3	4	3	2	3	2	3	2	3	2	1	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:107575937G>A	ENST00000222399.6	-	27	4341	c.4111C>T	c.(4111-4113)Caa>Taa	p.Q1371*	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Nonsense_Mutation_p.Q1395*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1371	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGCTCCTCTTGTTTTTCCTTG	0.532																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4183-4185)Caa>Taa		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						300	264	276					7																	107575937		2203	4300	6503	SO:0001587	stop_gained	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107575937G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4111C>T	7.37:g.107575937G>A	ENSP00000222399:p.Gln1371*					LAMB1_uc003vew.2_Nonsense_Mutation_p.Q1371*	p.Q1395*	NM_002291	NP_002282	P07942	LAMB1_HUMAN			24	4344	-			1371			Domain II.		Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	c.4183C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	45	11.374641	0.99553	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.8947	0.92419	0.0:0.0:1.0:0.0	.	.	.	.	X	1395;1371	.	ENSP00000222399:Q1371X	Q	-	1	0	LAMB1	107363173	1.000000	0.71417	0.948000	0.38648	0.971000	0.66376	9.263000	0.95617	2.710000	0.92621	0.655000	0.94253	CAA		0.532	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107575937	G	A	107575937	4	1	131	1	0	0	0	0	0	1	0	0	8610	1386	48	3	1281	3	LAMB1	7	107575937	Nonsense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	7256351	107575937	51562726	30	8954											
ASZ1	136991	broad.mit.edu	37	chr7	117024875	117024875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttcaagcaacttcaaaaCtatatttttatgaccctgac	15	13	4	9	0	2	2	2	2	0	0	2	2	2	2	1	0	3	2	1	0	8	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:117024875C>G	ENST00000284629.2	-	6	654	c.592G>C	c.(592-594)Gtt>Ctt	p.V198L		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACTTCAAAACTATATTTTTA	0.383																																						uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(592-594)Gtt>Ctt		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							132	119	124					7																	117024875		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024875C>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.592G>C	7.37:g.117024875C>G	ENSP00000284629:p.Val198Leu					ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR	p.V198L	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		5	655	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		198						Missense_Mutation	SNP	ENST00000284629.2	37	c.592G>C	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776852	0.70107	.	.	ENSG00000154438	ENST00000284629	T	0.71579	-0.58	5.92	2.55	0.30701	Ankyrin repeat-containing domain (4);	0.116062	0.64402	D	0.000018	T	0.64875	0.2638	L	0.43598	1.365	0.49213	D	0.999764	P;P	0.40431	0.717;0.717	B;B	0.44133	0.442;0.442	T	0.62525	-0.6836	10	0.72032	D	0.01	-22.5334	9.1247	0.36807	0.0:0.7184:0.0:0.2816	.	198;198	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	L	198	ENSP00000284629:V198L	ENSP00000284629:V198L	V	-	1	0	ASZ1	116812111	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	0.952000	0.29149	0.196000	0.20367	0.655000	0.94253	GTT		0.383	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		G	117024875	C	G	117024875	3	3	131	1	0	0	0	0	1	0	0	0	1069	565	20	5	867	5	ASZ1	7	117024875	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	9448938	117024875	42113788	31	8955											
IFNA10	3446	broad.mit.edu	37	chr9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A																															ctgctggatcatctcatggaGgacagagatggcttgagcct																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206859G>A	ENST00000357374.2	-	1	283	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	80					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L80F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483																																						uc003zoq.1																			1	Substitution - Missense(1)	p.L80F(2)|p.V79A(2)	lung(1)	endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(238-240)Ctc>Ttc		Homo sapiens interferon, alpha 10 (IFNA10), mRNA.							53	59	57					9																	21206859		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206859G>A		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.238C>T	9.37:g.21206859G>A	ENSP00000369566:p.Leu80Phe					IFNA14_uc003zoo.1_Intron	p.L80F	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	0	284	-			80					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.238C>T	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	16.06	3.015173	0.54468	.	.	ENSG00000186803	ENST00000357374	T	0.04551	3.6	3.75	-0.143	0.13444	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.829753	0.10704	N	0.643733	T	0.10465	0.0256	M	0.65498	2.005	0.09310	N	1	B	0.19706	0.038	B	0.39152	0.292	T	0.43130	-0.9410	10	0.62326	D	0.03	.	9.0205	0.36198	0.0:0.6049:0.2565:0.1386	.	80	P01566	IFN10_HUMAN	F	80	ENSP00000369566:L80F	ENSP00000369566:L80F	L	-	1	0	IFNA10	21196859	0.000000	0.05858	0.000000	0.03702	0.990000	0.78478	-1.579000	0.02123	0.155000	0.19261	0.499000	0.49734	CTC		0.483	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		A	21206859	G	A	21206859	3	1	131	1	0	0	0	0	1	0	0	0	7532	1000	35	3	335	3	IFNA10	9	21206859	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		21206859	120006572	32	8956	13	2									
IFNA10	3446	broad.mit.edu	37	chr9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G																															gctggatcatctcatggaggAcagagatggcttgagccttc																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206861A>G	ENST00000357374.2	-	1	281	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488																																						uc003zoq.1																			2	Substitution - Missense(2)	p.V79A(4)	lung(2)	endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(235-237)gTc>gCc		Homo sapiens interferon, alpha 10 (IFNA10), mRNA.							54	60	58					9																	21206861		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206861A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.236T>C	9.37:g.21206861A>G	ENSP00000369566:p.Val79Ala					IFNA14_uc003zoo.1_Intron	p.V79A	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	0	282	-			79					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.236T>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.90	2.968995	0.53614	.	.	ENSG00000186803	ENST00000357374	T	0.04917	3.53	3.75	1.29	0.21616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.07638	0.0192	L	0.54863	1.705	0.09310	N	1	B	0.16802	0.019	B	0.33454	0.164	T	0.35226	-0.9797	10	0.66056	D	0.02	.	2.8329	0.05505	0.5958:0.0:0.2161:0.1881	.	79	P01566	IFN10_HUMAN	A	79	ENSP00000369566:V79A	ENSP00000369566:V79A	V	-	2	0	IFNA10	21196861	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.641000	0.24720	0.034000	0.15491	0.409000	0.27619	GTC		0.488	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		G	21206861	A	G	21206861	3	3	131	1	0	0	0	0	1	0	0	0	7532	275	10	4	337	4	IFNA10	9	21206861	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	2	21206861	120006570	33	8957	13	2									
ZNF618	114991	broad.mit.edu	37	chr9	116750724	116750724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagacagagctgccCgatgactacatccaggaggt	13	6	13	9	1	0	4	0	2	0	2	1	6	1	5	2	3	3	1	2	3	3	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:116750724C>T	ENST00000374126.5	+	3	300	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ZNF618_ENST00000288466.7_Silent_p.P67P			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGAGCTGCCCGATGACTACA	0.632																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(199-201)ccC>ccT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							63	70	68					9																	116750724		2171	4265	6436	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116750724C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.201C>T	9.37:g.116750724C>T						ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.3_Silent_p.P67P|ZNF618_uc011lxi.2_Silent_p.P67P|ZNF618_uc011lxj.2_Silent_p.P67P	p.P67P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			2	300	+			67					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.201C>T																																																																																					0.632	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116750724	C	T	116750724	2	4	131	1	0	0	0	0	0	0	0	1	18039	639	23	2		2	ZNF618	9	116750724	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	95543863	116750724	24462707	34	8958											
SNAPC4	6621	broad.mit.edu	37	chr9	139282191	139282192	+	Intron	INS	-	-	A																															tcctagggtcccgcacacttINSacagcatcttcctccggggc																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:139282191_139282192insA	ENST00000298532.2	-	11	1599					NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGCACACTTACAGCATCTTC	0.579																																						uc004chh.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.e11+1		Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.																																				SO:0001627	intron_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139282191_139282192insA	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1230+1->T	9.37:g.139282192_139282192dupA							p.A410_splice	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	11	1239	-		Myeloproliferative disorder(178;0.0511)	410			HTH myb-type 2.			Splice_Site	INS	ENST00000298532.2	37	c.1230_splice	CCDS6998.1																																																																																				0.579	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		A	139282192	-	A	139282191	6	5	131	0	1	1	1	0	0	0	0	0	14837	1769	61	0		0	SNAPC4	9	139282191	Intron	INS	-	TCGA-14-0790-01B-01D-1494-08	22531467	139282191	1931240	35	8959											
NOXA1	10811	broad.mit.edu	37	chr9	140325755	140325755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgcagagacagaggtcGgtgctgaccgctgcacgtcg	8	7	15	11	5	0	3	0	1	0	2	3	5	0	3	1	2	3	4	1	2	0	0	rs141558298		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:140325755G>A	ENST00000341349.2	+	8	946	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	NOXA1_ENST00000392815.2_Missense_Mutation_p.G200S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	256					positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GACAGAGGTCGGTGCTGACCG	0.672																																						uc004cmu.3																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(766-768)Ggt>Agt		Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.		G	SER/GLY	1,4403	2.1+/-5.4	0,1,2201	61	60	61		766	-2.6	0	9	dbSNP_134	61	0,8598		0,0,4299	no	missense	NOXA1	NM_006647.1	56	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	256/484	140325755	1,13001	2202	4299	6501	SO:0001583	missense	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140325755G>A	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.766G>A	9.37:g.140325755G>A	ENSP00000342848:p.Gly256Ser					NOXA1_uc004cmv.3_Missense_Mutation_p.G256S|NOXA1_uc010nch.3_Missense_Mutation_p.G200S	p.G256S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	7	901	+	all_cancers(76;0.0926)		256					O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	c.766G>A	CCDS7042.1	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415091	0.11870	2.27E-4	0.0	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.87809	-2.3;-2.15	1.81	-2.6	0.06190	.	1.158980	0.06735	N	0.777424	T	0.74665	0.3746	N	0.20986	0.625	0.09310	N	1	B;B;B	0.29862	0.259;0.01;0.168	B;B;B	0.19946	0.016;0.0;0.027	T	0.58607	-0.7607	10	0.40728	T	0.16	.	6.5423	0.22387	0.643:0.0:0.357:0.0	.	200;256;256	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	256;200	ENSP00000342848:G256S;ENSP00000376562:G200S	ENSP00000342848:G256S	G	+	1	0	NOXA1	139445576	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.862000	0.00725	-0.856000	0.04120	-0.254000	0.11334	GGT		0.672	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			A	140325755	G	A	140325755	3	1	131	1	0	0	0	0	1	0	0	0	10560	1116	39	2	796	2	NOXA1	9	140325755	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	1043564	140325755	887676	36	8960											
RTKN2	219790	broad.mit.edu	37	chr10	63957757	63957757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggcttggcttcaaaattGgttttagtgtctgtgtgctc	6	17	11	7	0	2	0	1	0	1	0	3	0	2	0	0	3	1	4	0	3	3	5	rs186359235		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:63957757G>T	ENST00000373789.3	-	12	1836	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	580					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTCAAAATTGGTTTTAGTGT	0.448																																						uc001jlw.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1738-1740)acC>acA		Homo sapiens rhotekin 2 (RTKN2), mRNA.							84	80	81					10																	63957757		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957757G>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1740C>A	10.37:g.63957757G>T						RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.T234T	p.T580T	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			11	1837	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		580					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1740C>A	CCDS7263.1																																																																																				0.448	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		T	63957757	G	T	63957757	2	4	131	1	0	0	0	0	0	0	0	1	13723	1335	47	5		5	RTKN2	10	63957757	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08		63957757	71576990	37	8961											
CHUK	1147	broad.mit.edu	37	chr10	101981868	101981868	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattttaatactgatacgtaCctatatcacttagtaaagaa	16	15	4	6	1	1	2	1	1	0	1	1	2	1	2	1	0	3	2	1	0	11	10			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:101981868C>T	ENST00000370397.7	-	4	472		c.e4+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGATACGTACCTATATCACT	0.313																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.e4+1		Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.							56	55	56					10																	101981868		2199	4295	6494	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101981868C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.385+1G>A	10.37:g.101981868C>T							p.G129_splice	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	4	440	-		Colorectal(252;0.117)	129			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37	c.385_splice	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692399	0.88735	.	.	ENSG00000213341	ENST00000370397	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHUK	101971858	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.183000	0.77697	2.885000	0.99019	0.655000	0.94253	.		0.313	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	Intron	T	101981868	C	T	101981868	5	4	131	1	0	0	0	0	0	0	1	0	3416	521	18	3	1923	3	CHUK	10	101981868	Splice_Site	SNP	C	TCGA-14-0790-01B-01D-1494-08	38024111	101981868	33552879	38	8962											
LGR4	55366	broad.mit.edu	37	chr11	27390538	27390538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagacacagaaatcaagcCtataaacaatttggacgaag	18	8	8	7	1	1	2	1	0	0	2	1	4	1	3	1	1	2	1	1	1	8	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:27390538C>T	ENST00000379214.4	-	18	2175	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	LGR4_ENST00000389858.4_Missense_Mutation_p.G554S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	578					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GAAATCAAGCCTATAAACAAT	0.378																																						uc001mrj.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1732-1734)Ggc>Agc		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.							82	82	82					11																	27390538		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390538C>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1732G>A	11.37:g.27390538C>T	ENSP00000368516:p.Gly578Ser					LGR4_uc001mrk.4_Missense_Mutation_p.G554S	p.G578S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			17	2217	-			578					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1732G>A	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605946	0.66445	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.85339	-1.97;-1.97	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.049395	0.85682	D	0.000000	D	0.86431	0.5931	L	0.57536	1.79	0.80722	D	1	P;P	0.52061	0.95;0.568	P;B	0.50860	0.652;0.229	D	0.83400	0.0022	10	0.23302	T	0.38	.	15.364	0.74507	0.0:0.9318:0.0:0.0682	.	554;578	G5E9B3;Q9BXB1	.;LGR4_HUMAN	S	578;554	ENSP00000368516:G578S;ENSP00000374508:G554S	ENSP00000368516:G578S	G	-	1	0	LGR4	27347114	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.095000	0.71439	2.797000	0.96272	0.650000	0.86243	GGC		0.378	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		T	27390538	C	T	27390538	3	4	131	1	0	0	0	0	1	0	0	0	8756	681	24	3	1127	3	LGR4	11	27390538	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		27390538	107615978	39	8963											
HARBI1	283254	broad.mit.edu	37	chr11	46637480	46637480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgacattggcaacaCaacgactcatagacgcctga	13	8	8	12	2	2	3	2	2	0	1	2	4	2	3	1	1	2	1	1	1	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:46637480C>T	ENST00000326737.3	-	2	555	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	103						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATTGGCAACACAACGACTCAT	0.488																																						uc001ncy.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(307-309)tGt>tAt		Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.							141	138	139					11																	46637480		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637480C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.308G>A	11.37:g.46637480C>T	ENSP00000317743:p.Cys103Tyr					ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	p.C103Y	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			1	556	-			103					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.308G>A	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766166	0.49574	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.26	3.37	0.38596	.	0.040820	0.85682	N	0.000000	T	0.58680	0.2139	M	0.79926	2.475	0.80722	D	1	B	0.33345	0.409	B	0.27715	0.082	T	0.58132	-0.7690	9	0.23891	T	0.37	-17.7386	11.8158	0.52209	0.0:0.8551:0.0:0.1449	.	103	Q96MB7	HARB1_HUMAN	Y	103	.	ENSP00000317743:C103Y	C	-	2	0	HARBI1	46594056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.742000	0.68646	1.226000	0.43582	0.655000	0.94253	TGT		0.488	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		T	46637480	C	T	46637480	3	4	131	1	0	0	0	0	1	0	0	0	6958	478	17	3	749	3	HARBI1	11	46637480	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	19246942	46637480	88369036	40	8964											
VWF	7450	broad.mit.edu	37	chr12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgaagggtgggcaaaCggtgcggggggcaggagggt	7	6	21	7	3	1	0	0	0	1	0	2	2	2	1	1	8	2	2	1	8	2	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:6091103C>T	ENST00000261405.5	-	42	7390	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2379					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(7135-7137)cGt>cAt		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						89	75	80					12																	6091103		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091103C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7136G>A	12.37:g.6091103C>T	ENSP00000261405:p.Arg2379His					VWF_uc010set.1_Intron	p.R2379H	NM_000552	NP_000543	P04275	VWF_HUMAN			41	7386	-			2379					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7136G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382894	0.61845	.	.	ENSG00000110799	ENST00000261405	T	0.36340	1.26	4.98	4.1	0.47936	.	0.000000	0.37437	N	0.002093	T	0.52549	0.1741	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	P	0.55455	0.776	T	0.58364	-0.7649	10	0.72032	D	0.01	.	8.8256	0.35052	0.0:0.8321:0.0:0.1679	.	2379	P04275	VWF_HUMAN	H	2379	ENSP00000261405:R2379H	ENSP00000261405:R2379H	R	-	2	0	VWF	5961364	0.998000	0.40836	0.869000	0.34112	0.284000	0.27059	3.960000	0.56752	1.326000	0.45319	0.555000	0.69702	CGT		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6091103	C	T	6091103	3	4	131	1	0	0	0	0	1	0	0	0	17243	536	19	1	1349	1	VWF	12	6091103	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		6091103	127760792	41	8965											
KRT3	3850	broad.mit.edu	37	chr12	53185580	53185580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccatgcctgccagcCgtggtctgcagctcccccaa	6	8	8	19	1	2	0	1	0	1	0	4	0	4	0	7	1	5	2	7	1	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:53185580C>T	ENST00000417996.2	-	6	1283	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	KRT3_ENST00000309505.3_Silent_p.T403T	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	403	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCCAGCCGTGGTCTGCA	0.527																																						uc001say.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1207-1209)acG>acA		Homo sapiens keratin 3 (KRT3), mRNA.							73	72	72					12																	53185580		2203	4300	6503	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185580C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1209G>A	12.37:g.53185580C>T							p.T403T	NM_057088	NP_476429	P12035	K2C3_HUMAN			5	1275	-			403			Coil 2.|Rod.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.1209G>A	CCDS44895.1																																																																																				0.527	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53185580	C	T	53185580	2	4	131	1	0	0	0	0	0	0	0	1	8466	639	23	2		2	KRT3	12	53185580	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	47094477	53185580	80666315	42	8966											
OR6C4	341418	broad.mit.edu	37	chr12	55945614	55945614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtcatcctcttggccGttgtgactctcatggttact	5	16	10	10	1	3	2	2	2	2	0	5	2	4	2	2	3	1	2	2	3	1	3	rs375998098	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:55945614G>A	ENST00000394256.2	+	1	632	c.604G>A	c.(604-606)Gtt>Att	p.V202I	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTCTTGGCCGTTGTGACTCT	0.483													G|||	4	0.000798722	0	0	5008	,	,		21643	0		0	False		,,,				2504	0.0041					uc010spp.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(604-606)Gtt>Att		Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.							161	136	144					12																	55945614		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945614G>A	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.604G>A	12.37:g.55945614G>A	ENSP00000377799:p.Val202Ile						p.V202I	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			0	604	+			202					A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.604G>A	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236702	0.05944	.	.	ENSG00000179626	ENST00000394256	T	0.37584	1.19	4.98	0.942	0.19525	GPCR, rhodopsin-like superfamily (1);	0.903729	0.09142	N	0.842780	T	0.20333	0.0489	N	0.17564	0.495	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.25710	-1.0124	10	0.41790	T	0.15	.	3.6982	0.08372	0.3561:0.0:0.4794:0.1645	.	202	Q8NGE1	OR6C4_HUMAN	I	202	ENSP00000377799:V202I	ENSP00000377799:V202I	V	+	1	0	OR6C4	54231881	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.655000	0.05348	0.066000	0.16515	0.655000	0.94253	GTT		0.483	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			A	55945614	G	A	55945614	3	1	131	1	0	0	0	0	1	0	0	0	11193	1145	40	1	606	1	OR6C4	12	55945614	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	2760034	55945614	77906281	43	8967											
GLIPR1	11010	broad.mit.edu	37	chr12	75874782	75874782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagactgcgttcgaatccAtaacaagttccgatcagagg	14	8	9	10	3	1	2	1	0	0	2	4	4	3	2	2	1	2	2	2	1	4	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:75874782A>G	ENST00000266659.3	+	1	323	c.122A>G	c.(121-123)cAt>cGt	p.H41R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	41	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GTTCGAATCCATAACAAGTTC	0.378																																						uc001sxs.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(121-123)cAt>cGt		Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.							97	92	94					12																	75874782		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75874782A>G	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.122A>G	12.37:g.75874782A>G	ENSP00000266659:p.His41Arg					GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R	p.H41R	NM_006851	NP_006842	P48060	GLIP1_HUMAN			0	270	+			41					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.122A>G	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292060	0.80914	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.60299	0.2;0.2	6.03	6.03	0.97812	CAP domain (3);	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92681	0.6158	10	0.87932	D	0	.	15.1366	0.72572	1.0:0.0:0.0:0.0	.	41;41	F6VVE8;P48060	.;GLIP1_HUMAN	R	41	ENSP00000266659:H41R;ENSP00000391144:H41R	ENSP00000266659:H41R	H	+	2	0	GLIPR1	74161049	1.000000	0.71417	0.307000	0.25127	0.808000	0.45660	7.131000	0.77243	2.302000	0.77476	0.533000	0.62120	CAT		0.378	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		G	75874782	A	G	75874782	3	3	131	1	0	0	0	0	1	0	0	0	6441	217	8	4	124	4	GLIPR1	12	75874782	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	19929168	75874782	57977113	44	8968											
MGAT4C	25834	broad.mit.edu	37	chr12	86373908	86373908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctacattttgcttggaaCgaaatttgactctatcttct	11	17	5	8	1	4	1	0	1	4	0	4	3	4	2	0	1	3	1	0	1	5	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:86373908C>T	ENST00000604798.1	-	8	1800	c.596G>A	c.(595-597)cGt>cAt	p.R199H	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	199					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338																																						uc010sum.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(667-669)cGt>cAt		Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.							101	103	102					12																	86373908		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373908C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.596G>A	12.37:g.86373908C>T	ENSP00000474896:p.Arg199His					MGAT4C_uc001tal.4_Missense_Mutation_p.R199H|MGAT4C_uc001taj.4_Missense_Mutation_p.R199H|MGAT4C_uc001tak.4_Missense_Mutation_p.R199H|MGAT4C_uc001tai.4_Missense_Mutation_p.R199H|MGAT4C_uc001tah.4_Missense_Mutation_p.R199H	p.R223H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			5	827	-			199					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.668G>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823647	0.50739	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.49	5.49	0.81192	.	0.122041	0.53938	D	0.000057	T	0.75042	0.3796	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76578	-0.2908	10	0.62326	D	0.03	-22.3009	19.7507	0.96267	0.0:1.0:0.0:0.0	.	228;199	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	199;228;199;199;199;199;199	ENSP00000331664:R199H;ENSP00000376900:R228H;ENSP00000449022:R199H;ENSP00000446647:R199H;ENSP00000447253:R199H;ENSP00000449172:R199H	ENSP00000331664:R199H	R	-	2	0	MGAT4C	84898039	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	6.081000	0.71309	2.722000	0.93159	0.655000	0.94253	CGT		0.338	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		T	86373908	C	T	86373908	3	4	131	1	0	0	0	0	1	0	0	0	9547	536	19	1	844	1	MGAT4C	12	86373908	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	10499126	86373908	47477987	45	8969											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100453163	100453163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactaaaaaaatcacaatctTtaaagtcttgaaacaaagct	20	11	3	7	0	3	1	1	1	2	0	3	1	3	1	0	0	3	1	0	0	10	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:100453163T>C	ENST00000279907.7	-	14	2104	c.1892A>G	c.(1891-1893)aAa>aGa	p.K631R	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.K281R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	631										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCACAATCTTTAAAGTCTTG	0.353																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1891-1893)aAa>aGa		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.							43	48	46					12																	100453163		2202	4295	6497	SO:0001583	missense	23074							g.chr12:100453163T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1892A>G	12.37:g.100453163T>C	ENSP00000279907:p.Lys631Arg					UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.K281R	p.K631R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			13	2121	-			631					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1892A>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308498	0.60305	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10382	2.88;2.88	5.56	5.56	0.83823	.	0.048278	0.85682	D	0.000000	T	0.19685	0.0473	L	0.56769	1.78	0.80722	D	1	P	0.51449	0.945	P	0.49752	0.621	T	0.01001	-1.1485	10	0.32370	T	0.25	-18.1773	15.7156	0.77667	0.0:0.0:0.0:1.0	.	631	A0JNW5	UH1BL_HUMAN	R	631;281	ENSP00000279907:K631R;ENSP00000444824:K281R	ENSP00000279907:K631R	K	-	2	0	UHRF1BP1L	98977294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.051000	0.71072	2.121000	0.65114	0.528000	0.53228	AAA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		C	100453163	T	C	100453163	3	2	131	1	0	0	0	0	1	0	0	0	16966	1841	64	4	2534	4	UHRF1BP1L	12	100453163	Missense_Mutation	SNP	T	TCGA-14-0790-01B-01D-1494-08	14079255	100453163	33398732	46	8970											
SBNO1	55206	broad.mit.edu	37	chr12	123794339	123794339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaaaatactgaaataaCgcattctgctgatgcacctc	13	10	6	12	2	1	2	0	2	1	0	3	2	2	2	2	0	4	4	2	0	5	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:123794339C>T	ENST00000602398.1	-	26	3487	c.3360G>A	c.(3358-3360)gcG>gcA	p.A1120A	SBNO1_ENST00000267176.4_Silent_p.A1119A|SBNO1_ENST00000420886.2_Silent_p.A1120A|SBNO1_ENST00000602750.1_Silent_p.A1119A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1120					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTGAAATAACGCATTCTGCT	0.328																																						uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3358-3360)gcG>gcA		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							156	157	157					12																	123794339		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794339C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3360G>A	12.37:g.123794339C>T						SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1119A|SBNO1_uc010taq.2_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A	p.A1120A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	24	3360	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1120					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3360G>A	CCDS53844.1																																																																																				0.328	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		T	123794339	C	T	123794339	2	4	131	1	0	0	0	0	0	0	0	1	13862	523	19	1		1	SBNO1	12	123794339	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	23341176	123794339	10057556	47	8971											
CDADC1	81602	broad.mit.edu	37	chr13	49865831	49865831	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgctagatggtgtgttgAgacctgtcccacagaaggaa	12	9	12	8	0	0	3	0	1	0	3	1	5	1	4	2	2	1	2	2	2	4	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:49865831A>C	ENST00000251108.6	+	10	1596	c.1483A>C	c.(1483-1485)Aga>Cga	p.R495R	CDADC1_ENST00000444959.1_Silent_p.R297R	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	495							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGGTGTGTTGAGACCTGTCCC	0.488																																						uc001vcu.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(1483-1485)Aga>Cga		Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.							170	157	161					13																	49865831		2203	4300	6503	SO:0001819	synonymous_variant	81602						hydrolase activity|zinc ion binding	g.chr13:49865831A>C	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1483A>C	13.37:g.49865831A>C						CDADC1_uc021rjm.1_Intron|CDADC1_uc010tgk.2_Silent_p.R297R|CDADC1_uc001vcv.3_Non-coding_Transcript	p.R495R	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	9	1610	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	495					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	37	c.1483A>C	CCDS9415.1																																																																																				0.488	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		C	49865831	A	C	49865831	2	2	131	1	0	0	0	0	0	0	0	1	3053	296	11	5		5	CDADC1	13	49865831	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08		49865831	65304047	48	8972											
C13orf39	196541	broad.mit.edu	37	chr13	103343256	103343256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgagtgtagctggcGtaatctgtaggaacaaattt	10	13	11	7	1	1	1	0	1	1	0	2	2	2	2	1	2	3	5	1	2	5	4	rs140891650		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:103343256G>A	ENST00000267273.6	-	2	194	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	63					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGTAGCTGGCGTAATCTGTAG	0.443																																						uc001vpj.3																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(187-189)taC>taT		Homo sapiens methyltransferase like 21C (METTL21C), mRNA.		G		0,4406		0,0,2203	161	145	151		189	-3	0.8	13	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	METTL21C	NM_001010977.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		63/265	103343256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103343256G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.189C>T	13.37:g.103343256G>A							p.Y63Y	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			1	195	-			63						Silent	SNP	ENST00000267273.6	37	c.189C>T	CCDS32003.1																																																																																				0.443	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		A	103343256	G	A	103343256	2	1	131	1	0	0	0	0	0	0	0	1	1732	1140	40	1		1	C13orf39	13	103343256	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	53477425	103343256	11826622	49	8973											
OR4N2	390429	broad.mit.edu	37	chr14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatattctacttcatcaTcctccctggaaattttctca	10	18	2	11	0	4	0	3	0	2	0	7	1	6	1	2	1	1	0	2	1	4	8			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:20295720T>C	ENST00000315947.1	+	1	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T	OR4N2_ENST00000568211.1_Missense_Mutation_p.I38T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438																																						uc010tkv.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(112-114)aTc>aCc		Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.							190	217	208					14																	20295720		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295720T>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.113T>C	14.37:g.20295720T>C	ENSP00000319601:p.Ile38Thr						p.I38T	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	113	+	all_cancers(95;0.00108)		38					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.113T>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.667650	0.00765	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00603	6.28;6.28	4.3	4.3	0.51218	.	0.133715	0.34411	N	0.003996	T	0.00178	0.0005	N	0.00175	-1.925	0.28934	N	0.891379	B	0.23058	0.079	B	0.22880	0.042	T	0.34477	-0.9827	10	0.02654	T	1	-20.2351	6.5645	0.22505	0.0:0.1081:0.0:0.8919	.	38	Q8NGD1	OR4N2_HUMAN	T	38	ENSP00000452022:I38T;ENSP00000319601:I38T	ENSP00000319601:I38T	I	+	2	0	OR4N2	19365560	0.000000	0.05858	1.000000	0.80357	0.548000	0.35241	0.219000	0.17641	1.922000	0.55676	0.482000	0.46254	ATC		0.438	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			C	20295720	T	C	20295720	3	2	131	1	0	0	0	0	1	0	0	0	11077	1435	50	4	115	4	OR4N2	14	20295720	Missense_Mutation	SNP	T	TCGA-14-0790-01B-01D-1494-08		20295720	87053820	50	8974											
RNASE11	122651	broad.mit.edu	37	chr14	21052495	21052495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaatatctcaatggtctGtttttcttggccactttttg	7	20	6	8	0	3	0	1	0	3	0	4	0	3	0	1	2	0	1	1	2	3	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:21052495G>T	ENST00000610205.1	-	3	322	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	RNASE11_ENST00000555841.1_Missense_Mutation_p.Q47K|RNASE11_ENST00000398008.2_Missense_Mutation_p.Q47K|RNASE11_ENST00000398009.2_Missense_Mutation_p.Q47K|RNASE11_ENST00000432835.2_Missense_Mutation_p.Q47K|RNASE11_ENST00000553849.1_Missense_Mutation_p.Q47K	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	47						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCAATGGTCTGTTTTTCTTGG	0.378																																						uc010ahw.3																			0				endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(139-141)Cag>Aag		Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.							221	207	212					14																	21052495		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052495G>T	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.139C>A	14.37:g.21052495G>T	ENSP00000476537:p.Gln47Lys					RNASE11_uc010ahv.3_Missense_Mutation_p.Q47K|RNASE11_uc010ahx.3_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.3_Missense_Mutation_p.Q47K|RNASE11_uc021rnu.1_Missense_Mutation_p.Q47K	p.Q47K	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	475	-	all_cancers(95;0.00238)	all_lung(585;0.235)	47						Missense_Mutation	SNP	ENST00000610205.1	37	c.139C>A	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	3.446	-0.113084	0.06881	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.03;1.01;1.02	4.09	1.06	0.20224	.	1.988530	0.03080	N	0.158356	T	0.32194	0.0821	L	0.27053	0.805	0.09310	N	1	P	0.37061	0.58	B	0.35114	0.196	T	0.31971	-0.9924	10	0.59425	D	0.04	-14.6004	7.2774	0.26292	0.0:0.3576:0.4582:0.1842	.	47	Q8TAA1	RNS11_HUMAN	K	47	ENSP00000338288:Q47K;ENSP00000451318:Q47K;ENSP00000451563:Q47K;ENSP00000381093:Q47K;ENSP00000381092:Q47K;ENSP00000395210:Q47K;ENSP00000401398:Q47K;ENSP00000451839:Q47K;ENSP00000452412:Q47K;ENSP00000415954:Q47K;ENSP00000451466:Q47K	ENSP00000338288:Q47K	Q	-	1	0	RNASE11	20122335	0.009000	0.17119	0.002000	0.10522	0.005000	0.04900	0.391000	0.20784	0.234000	0.21139	-0.428000	0.05917	CAG		0.378	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		T	21052495	G	T	21052495	3	4	131	1	0	0	0	0	1	0	0	0	13401	1386	48	5	464	5	RNASE11	14	21052495	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	756775	21052495	86297045	51	8975											
ARID4A	5926	broad.mit.edu	37	chr14	58831848	58831848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttactcttagtcaagAtgagtctcgaagcgtaaaaa	15	10	7	9	2	3	2	1	1	2	1	4	3	3	2	1	0	2	1	1	0	7	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:58831848A>G	ENST00000355431.3	+	20	3414	c.3041A>G	c.(3040-3042)gAt>gGt	p.D1014G	ARID4A_ENST00000348476.3_Missense_Mutation_p.D1014G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D1014G|ARID4A_ENST00000431317.2_Missense_Mutation_p.D1014G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1014					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTAGTCAAGATGAGTCTCGA	0.413																																						uc001xdp.3																			0		p.Q1013K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3040-3042)gAt>gGt		Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.							134	129	131					14																	58831848		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831848A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3041A>G	14.37:g.58831848A>G	ENSP00000347602:p.Asp1014Gly					ARID4A_uc001xdo.3_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.3_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G	p.D1014G	NM_002892	NP_002883	P29374	ARI4A_HUMAN			19	3295	+			1014					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3041A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153348	0.78114	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.19806	2.43;2.3;2.28;2.3;2.12	5.68	5.68	0.88126	.	0.467083	0.25332	N	0.031437	T	0.35998	0.0951	L	0.50333	1.59	0.58432	D	0.999999	D;P;P	0.55385	0.971;0.914;0.787	P;P;B	0.55749	0.783;0.516;0.42	T	0.07347	-1.0777	10	0.87932	D	0	-23.3127	15.9333	0.79683	1.0:0.0:0.0:0.0	.	1014;1014;1014	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	1014;1014;1014;1014;692	ENSP00000347602:D1014G;ENSP00000344556:D1014G;ENSP00000378597:D1014G;ENSP00000397368:D1014G;ENSP00000416053:D692G	ENSP00000344556:D1014G	D	+	2	0	ARID4A	57901601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.803000	0.85983	2.170000	0.68504	0.455000	0.32223	GAT		0.413	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		G	58831848	A	G	58831848	3	3	131	1	0	0	0	0	1	0	0	0	919	333	12	4	3115	4	ARID4A	14	58831848	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	37779353	58831848	48517692	52	8976											
AHNAK2	113146	broad.mit.edu	37	chr14	105408457	105408457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggtccccctccagcCgcgtactgtccagcttggct	5	8	12	16	2	0	0	0	0	0	0	3	1	3	1	5	3	3	3	5	3	1	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:105408457C>T	ENST00000333244.5	-	7	13450	c.13331G>A	c.(13330-13332)cGg>cAg	p.R4444Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4444						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTCCAGCCGCGTACTGTC	0.587																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13330-13332)cGg>cAg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							149	157	155					14																	105408457		2020	4165	6185	SO:0001583	missense	113146					nucleus		g.chr14:105408457C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13331G>A	14.37:g.105408457C>T	ENSP00000353114:p.Arg4444Gln					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	p.R4444Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	13451	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4444					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13331G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	1.983	-0.433764	0.04669	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	2.13	0.913	0.19354	.	3.092860	0.04267	U	0.341422	T	0.00724	0.0024	N	0.20401	0.57	0.09310	N	1	B	0.30326	0.276	B	0.21360	0.034	T	0.48151	-0.9060	10	0.13853	T	0.58	.	3.7561	0.08586	0.0:0.2302:0.0:0.7698	.	4444	Q8IVF2	AHNK2_HUMAN	Q	4444	ENSP00000353114:R4444Q	ENSP00000353114:R4444Q	R	-	2	0	AHNAK2	104479502	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.878000	0.28126	-0.220000	0.09988	0.194000	0.17425	CGG		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105408457	C	T	105408457	3	4	131	1	0	0	0	0	1	0	0	0	415	652	23	2	4060	2	AHNAK2	14	105408457	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	46576609	105408457	1941083	53	8977											
PLCB2	5330	broad.mit.edu	37	chr15	40583002	40583002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcagctctgccgcctGtttctctctggccagctcca	3	12	9	17	1	4	0	1	0	3	0	6	0	5	0	5	2	3	3	5	2	0	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:40583002G>C	ENST00000260402.3	-	28	3322	c.3073C>G	c.(3073-3075)Cag>Gag	p.Q1025E	PLCB2_ENST00000456256.2_Missense_Mutation_p.Q1010E|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q1021E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1025					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGCCGCCTGTTTCTCTCTG	0.587																																						uc001zld.3																			0		p.E1024D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(3073-3075)Cag>Gag		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.							55	61	59					15																	40583002		1985	4160	6145	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40583002G>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3073C>G	15.37:g.40583002G>C	ENSP00000260402:p.Gln1025Glu					PLCB2_uc001zlc.3_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.3_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.2_Missense_Mutation_p.Q1010E	p.Q1025E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	27	3374	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1025					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.3073C>G	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871973	0.91587	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.57752	0.38;0.38	4.42	4.42	0.53409	PLC-beta, C-terminal (1);	0.837345	0.10659	N	0.648911	T	0.60392	0.2265	L	0.54323	1.7	0.80722	D	1	P;P;B	0.45283	0.656;0.855;0.36	B;P;B	0.47626	0.23;0.552;0.111	T	0.64305	-0.6439	10	0.87932	D	0	.	17.2213	0.86958	0.0:0.0:1.0:0.0	.	1010;1021;1025	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	E	1025;1010	ENSP00000260402:Q1025E;ENSP00000411991:Q1010E	ENSP00000260402:Q1025E	Q	-	1	0	PLCB2	38370294	1.000000	0.71417	0.916000	0.36221	0.961000	0.63080	5.462000	0.66707	2.246000	0.74042	0.561000	0.74099	CAG		0.587	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			C	40583002	G	C	40583002	3	2	131	1	0	0	0	0	1	0	0	0	12028	1386	48	5	504	5	PLCB2	15	40583002	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		40583002	61948390	54	8978											
VPS39	23339	broad.mit.edu	37	chr15	42457929	42457929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaccagataaggaataGccagacccttaaaattctct	15	10	5	11	0	1	2	0	0	1	2	2	3	1	3	4	1	2	0	4	1	6	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:42457929G>A	ENST00000348544.4	-	18	1798	c.1799C>T	c.(1798-1800)gCt>gTt	p.A600V	VPS39_ENST00000318006.5_Missense_Mutation_p.A589V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	600					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAAGGAATAGCCAGACCCTT	0.443																																						uc001zpd.3																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1798-1800)gCt>gTt		Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.							91	94	93					15																	42457929		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457929G>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1799C>T	15.37:g.42457929G>A	ENSP00000335193:p.Ala600Val					VPS39_uc001zpc.3_Missense_Mutation_p.A589V|VPS39_uc001zpb.3_5'UTR	p.A600V	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	17	1950	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	600					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.1799C>T	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783835	0.16189	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.46063	0.88;0.88	5.51	5.51	0.81932	.	0.051516	0.85682	D	0.000000	T	0.28333	0.0700	N	0.17674	0.51	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.17623	-1.0363	10	0.02654	T	1	-9.1887	19.4269	0.94746	0.0:0.0:1.0:0.0	.	600;589	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	V	589;600	ENSP00000326534:A589V;ENSP00000335193:A600V	ENSP00000326534:A589V	A	-	2	0	VPS39	40245221	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	6.645000	0.74343	2.595000	0.87683	0.655000	0.94253	GCT		0.443	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		A	42457929	G	A	42457929	3	1	131	1	0	0	0	0	1	0	0	0	17206	971	34	3	897	3	VPS39	15	42457929	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	1874927	42457929	60073463	55	8979											
SLC27A2	11001	broad.mit.edu	37	chr15	50518260	50518260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaaaatggatattgcGtcagagttcccaaaggtaca	14	10	11	6	1	1	3	1	2	0	1	2	4	2	4	1	2	2	2	1	2	5	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:50518260G>A	ENST00000267842.5	+	6	1475	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	SLC27A2_ENST00000544960.1_Missense_Mutation_p.V180I|SLC27A2_ENST00000380902.4_Missense_Mutation_p.V362I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	415					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V415L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGATATTGCGTCAGAGTTCC	0.353																																						uc001zxw.3																			1	Substitution - Missense(1)	p.V415L(2)	breast(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1243-1245)Gtc>Atc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							94	88	90					15																	50518260		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50518260G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1243G>A	15.37:g.50518260G>A	ENSP00000267842:p.Val415Ile					SLC27A2_uc010bes.3_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V180I	p.V415I	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	5	1475	+		all_lung(180;0.00177)	415					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1243G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	1.951	-0.441267	0.04604	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;D	0.82433	0.41;0.22;-1.61	5.53	0.5	0.16919	AMP-dependent synthetase/ligase (1);	0.290092	0.36703	N	0.002459	T	0.53594	0.1806	N	0.01742	-0.745	0.24548	N	0.994037	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.48864	-0.8997	10	0.02654	T	1	.	10.6242	0.45497	0.8478:0.0:0.1522:0.0	.	362;415	Q6PF09;O14975	.;S27A2_HUMAN	I	362;415;180	ENSP00000370289:V362I;ENSP00000267842:V415I;ENSP00000444549:V180I	ENSP00000267842:V415I	V	+	1	0	SLC27A2	48305552	0.969000	0.33509	0.999000	0.59377	0.813000	0.45954	0.436000	0.21526	0.041000	0.15688	-1.417000	0.01113	GTC		0.353	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		A	50518260	G	A	50518260	3	1	131	1	0	0	0	0	1	0	0	0	14526	1145	40	1	1265	1	SLC27A2	15	50518260	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	8060331	50518260	52013132	56	8980											
ACAN	176	broad.mit.edu	37	chr15	89395102	89395102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtggaggagtggatcGtgacccaagtggttcctggt	6	11	17	7	1	0	1	0	1	0	0	2	4	1	4	2	6	0	1	2	6	1	1	rs370096577		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:89395102G>A	ENST00000561243.1	+	10	2104	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	ACAN_ENST00000439576.2_Missense_Mutation_p.V702M|ACAN_ENST00000559004.1_Missense_Mutation_p.V702M|ACAN_ENST00000352105.7_Missense_Mutation_p.V702M			P16112	PGCA_HUMAN	aggrecan	701	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGTGGATCGTGACCCAAGT	0.567																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2104-2106)Gtg>Atg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.		G	MET/VAL,MET/VAL	0,4154		0,0,2077	52	67	62		2104,2104	-0.1	0	15		62	1,8389		0,1,4194	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	21,21	0,1,6271	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	702/2432,702/2531	89395102	1,12543	2077	4195	6272	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89395102G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2104G>A	15.37:g.89395102G>A	ENSP00000453342:p.Val702Met					ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_Non-coding_Transcript	p.V702M	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2478	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		702					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2104G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077002	0.36662	0.0	1.19E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.10860	2.83;2.83	5.41	-0.136	0.13473	.	1.184840	0.06813	N	0.790679	T	0.10035	0.0246	L	0.50333	1.59	0.09310	N	1	P;P	0.46859	0.885;0.885	B;B	0.36666	0.23;0.23	T	0.37244	-0.9714	10	0.66056	D	0.02	0.0039	7.5258	0.27653	0.2974:0.1236:0.579:0.0	.	702;702	E7ENV9;E7EX88	.;.	M	702	ENSP00000387356:V702M;ENSP00000341615:V702M	ENSP00000268134:V702M	V	+	1	0	ACAN	87196106	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.265000	0.08644	0.263000	0.21812	0.511000	0.50034	GTG		0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89395102	G	A	89395102	3	1	131	1	0	0	0	0	1	0	0	0	117	1145	40	1	2142	1	ACAN	15	89395102	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	38876842	89395102	13136290	57	8981											
GRIN2A	2903	broad.mit.edu	37	chr16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggttccctgtggcacGtggcccgatttgacgtttct	4	14	12	11	3	2	1	1	1	1	0	3	2	3	1	2	3	0	3	2	3	0	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:9858195G>A	ENST00000396573.2	-	14	3515	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1069					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T1069M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGTGGCACGTGGCCCGATT	0.502																																						uc010uym.2																			1	Substitution - Missense(1)	p.T1069M(2)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3205-3207)aCg>aTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128	121	124					16																	9858195		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858195G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3206C>T	16.37:g.9858195G>A	ENSP00000379818:p.Thr1069Met					GRIN2A_uc002czo.4_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T912M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1069M	p.T1069M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	3516	-			1069					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3206C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591479	0.46214	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.7;2.68;2.69;2.7;2.7	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.198738	0.53938	D	0.000051	T	0.30198	0.0757	L	0.57536	1.79	0.52099	D	0.99994	P;P;D	0.65815	0.937;0.949;0.995	P;P;P	0.58077	0.666;0.775;0.832	T	0.00559	-1.1671	9	.	.	.	.	18.0262	0.89270	0.0:0.0:1.0:0.0	.	912;1069;1069	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	1069;1069;912;1069;1069	ENSP00000379818:T1069M;ENSP00000385872:T1069M;ENSP00000441572:T912M;ENSP00000332549:T1069M;ENSP00000379820:T1069M	.	T	-	2	0	GRIN2A	9765696	1.000000	0.71417	0.957000	0.39632	0.405000	0.30901	7.396000	0.79891	2.491000	0.84063	0.655000	0.94253	ACG		0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9858195	G	A	9858195	3	1	131	1	0	0	0	0	1	0	0	0	6779	1145	40	1	1192	1	GRIN2A	16	9858195	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		9858195	80496558	58	8982											
IL4R	3566	broad.mit.edu	37	chr16	27373745	27373745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccagagagcatcagcGtggtgcgatgtgtggagttg	7	10	17	7	2	2	1	1	0	1	1	2	4	2	2	1	3	3	2	1	3	0	1	rs372264723		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:27373745G>A	ENST00000395762.2	+	11	1331	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	IL4R_ENST00000543915.2_Missense_Mutation_p.V358M|IL4R_ENST00000380922.3_Missense_Mutation_p.V343M|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.V358M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	358					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGCATCAGCGTGGTGCGATG	0.562																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1072-1074)Gtg>Atg		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.		G	MET/VAL	0,4394		0,0,2197	105	96	99		1072	4.2	0.8	16		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL4R	NM_000418.2	21	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	358/826	27373745	1,12993	2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373745G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1072G>A	16.37:g.27373745G>A	ENSP00000379111:p.Val358Met					IL4R_uc002dop.4_Missense_Mutation_p.V343M|IL4R_uc010bxy.3_Missense_Mutation_p.V358M|IL4R_uc002doo.3_Missense_Mutation_p.V198M	p.V358M	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	1314	+			358					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1072G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079676	0.55753	0.0	1.16E-4	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.14	4.18	0.49190	.	.	.	.	.	T	0.43211	0.1237	M	0.66939	2.045	0.31662	N	0.645394	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.52525	-0.8564	9	0.87932	D	0	-24.2785	11.1726	0.48579	0.0:0.0:0.8164:0.1836	.	343;358;358	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	M	358;358;343;358	ENSP00000379111:V358M;ENSP00000441667:V358M;ENSP00000370309:V343M;ENSP00000170630:V358M	ENSP00000170630:V358M	V	+	1	0	IL4R	27281246	0.990000	0.36364	0.822000	0.32727	0.531000	0.34715	2.008000	0.40893	1.159000	0.42565	0.655000	0.94253	GTG		0.562	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27373745	G	A	27373745	3	1	131	1	0	0	0	0	1	0	0	0	7698	1145	40	1	1124	1	IL4R	16	27373745	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	17515550	27373745	62981008	59	8983											
CDH8	1006	broad.mit.edu	37	chr16	61687974	61687974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaatggttcatttttatgCcgccgtagagttacaaacag	12	14	8	7	2	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	5	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:61687974C>T	ENST00000577390.1	-	12	2892	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	CDH8_ENST00000299345.6_Silent_p.R646R|CDH8_ENST00000577730.1_Silent_p.R646R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388																																						uc002eog.2																			0		p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cgG>cgA		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							65	64	64					16																	61687974		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687974C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1938G>A	16.37:g.61687974C>T							p.R646R	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2893	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1938G>A	CCDS10802.1																																																																																				0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	61687974	C	T	61687974	2	4	131	1	0	0	0	0	0	0	0	1	3116	726	26	3		3	CDH8	16	61687974	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	34314229	61687974	28666779	60	8984											
C16orf7	9605	broad.mit.edu	37	chr16	89782935	89782935	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgggtggcagaaaaggagaGagctttcctccttcatcgga	10	9	13	9	2	1	2	1	0	0	2	5	5	3	4	2	4	1	2	2	4	2	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:89782935G>C	ENST00000389386.3	-	4	490	c.366C>G	c.(364-366)ctC>ctG	p.L122L	VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Silent_p.L52L	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	122					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GAAAAGGAGAGAGCTTTCCTC	0.567																																						uc002fom.1																			0				breast(1)|lung(3)|ovary(1)	5						c.(364-366)ctC>ctG		Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.							166	185	179					16																	89782935		1978	4167	6145	SO:0001819	synonymous_variant	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89782935G>C	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.366C>G	16.37:g.89782935G>C						C16orf7_uc002fol.1_Silent_p.L52L|LOC100128881_uc002fon.1_Non-coding_Transcript|LOC100128881_uc002foo.1_5'Flank	p.L122L	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	491	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	122						Silent	SNP	ENST00000389386.3	37	c.366C>G	CCDS42220.1																																																																																				0.567	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		C	89782935	G	C	89782935	2	2	131	1	0	0	0	0	0	0	0	1	1828	929	33	5		5	C16orf7	16	89782935	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	28094961	89782935	571818	61	8985											
PRPF8	10594	broad.mit.edu	37	chr17	1577046	1577046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctagactcacaagttaAcatcatgtttcatgaggcgc	13	10	7	11	1	3	2	3	1	0	1	3	2	3	2	1	1	2	2	1	1	4	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:1577046A>G	ENST00000572621.1	-	21	3705	c.3440T>C	c.(3439-3441)gTt>gCt	p.V1147A	PRPF8_ENST00000304992.6_Missense_Mutation_p.V1147A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1147	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACAAGTTAACATCATGTTT	0.537																																						uc002fte.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3439-3441)gTt>gCt		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							129	121	124					17																	1577046		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577046A>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3440T>C	17.37:g.1577046A>G	ENSP00000460348:p.Val1147Ala						p.V1147A	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3554	-			1147					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3440T>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612731	0.87258	.	.	ENSG00000174231	ENST00000304992	D	0.84873	-1.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95842	0.8867	10	0.87932	D	0	.	15.4777	0.75497	1.0:0.0:0.0:0.0	.	1147	Q6P2Q9	PRP8_HUMAN	A	1147	ENSP00000304350:V1147A	ENSP00000304350:V1147A	V	-	2	0	PRPF8	1523796	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.108000	0.94275	2.240000	0.73641	0.477000	0.44152	GTT		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			G	1577046	A	G	1577046	3	3	131	1	0	0	0	0	1	0	0	0	12575	43	2	4	3655	4	PRPF8	17	1577046	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08		1577046	79618164	62	8986											
SPDYE4	388333	broad.mit.edu	37	chr17	8658859	8658859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggaagaaatgaatgCgttggtattgccacgagaag	14	7	14	6	2	0	3	0	1	0	2	0	6	0	4	2	2	3	2	2	2	5	3	rs201318763		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:8658859C>T	ENST00000328794.6	-	4	640	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	155										breast(1)|endometrium(2)|kidney(1)	4						GAAATGAATGCGTTGGTATTG	0.493																																						uc010cnz.1																			0				breast(1)|endometrium(2)|kidney(1)	4						c.(463-465)cGc>cAc		Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.							109	95	99					17																	8658859		692	1591	2283	SO:0001583	missense	388333							g.chr17:8658859C>T	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.464G>A	17.37:g.8658859C>T	ENSP00000329522:p.Arg155His						p.R155H	NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN			3	641	-			155					B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	c.464G>A	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	C	5.188	0.220224	0.09863	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.86	0.736	0.18307	.	0.600414	0.14244	N	0.331902	T	0.52403	0.1732	L	0.60957	1.885	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.34527	-0.9825	9	0.44086	T	0.13	.	5.0539	0.14522	0.0:0.692:0.0:0.308	.	155	A6NLX3	SPDE4_HUMAN	H	155	.	ENSP00000329522:R155H	R	-	2	0	SPDYE4	8599584	0.012000	0.17670	0.002000	0.10522	0.007000	0.05969	-0.013000	0.12678	0.084000	0.17077	-0.474000	0.04947	CGC		0.493	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		T	8658859	C	T	8658859	3	4	131	1	0	0	0	0	1	0	0	0	15030	768	27	1	261	1	SPDYE4	17	8658859	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	7081813	8658859	72536351	63	8987											
MYH4	4622	broad.mit.edu	37	chr17	10369590	10369590	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgttgaaagggtgctcacGtagatcatccaggctgcgta	10	9	13	9	3	2	2	2	1	0	1	3	2	3	2	1	2	3	5	1	2	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:10369590G>A	ENST00000255381.2	-	4	458	c.348C>T	c.(346-348)taC>taT	p.Y116Y	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	116	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTGCTCACGTAGATCATCC	0.433																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e4+1		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							252	206	221					17																	10369590		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369590G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1C>T	17.37:g.10369590G>A						AK097500_uc002gml.1_Intron	p.Y116_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			4	459	-			116			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.348_splice	CCDS11154.1																																																																																				0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Silent	A	10369590	G	A	10369590	5	1	131	1	0	0	0	0	0	0	1	0	10037	1159	40	1	5619	1	MYH4	17	10369590	Splice_Site	SNP	G	TCGA-14-0790-01B-01D-1494-08	1710731	10369590	70825620	64	8988											
ACCN1	40	broad.mit.edu	37	chr17	31351022	31351022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaattgctgtccttttcCgccaacagacctggagggga	9	10	11	11	1	0	1	0	0	0	1	2	3	2	3	4	3	2	2	4	3	2	4	rs544368158		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:31351022C>T	ENST00000359872.6	-	6	1814	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Silent_p.A402A	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	351					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.A402A(2)|p.A351A(2)								Amiloride(DB00594)	TGTCCTTTTCCGCCAACAGAC	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		18103	0		0	False		,,,				2504	0					uc002hht.3																			4	Substitution - coding silent(4)	p.A402A(2)|p.A351A(2)	upper_aerodigestive_tract(2)|breast(2)								c.(1204-1206)gcG>gcA		Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	Amiloride(DB00594)						125	112	116					17																	31351022		2203	4300	6503	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31351022C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1053G>A	17.37:g.31351022C>T						ASIC2_uc002hhu.3_Silent_p.A351A	p.A402A	NM_183377	NP_899233	Q16515	ACCN1_HUMAN			5	2079	-			351					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.1206G>A	CCDS42296.1																																																																																				0.532	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		T	31351022	C	T	31351022	2	4	131	1	0	0	0	0	0	0	0	1	128	639	23	2		2	ACCN1	17	31351022	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	20981432	31351022	49844188	65	8989											
C17orf53	78995	broad.mit.edu	37	chr17	42225478	42225478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggagcagctcccctaaggCctgtctctacttccagcagc	8	9	9	15	0	1	0	0	0	1	0	4	1	3	1	4	2	5	3	4	2	3	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:42225478C>T	ENST00000319977.4	+	3	544	c.307C>T	c.(307-309)Cct>Tct	p.P103S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P103S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P103S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	103										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTAAGGCCTGTCTCTAC	0.577																																						uc002ifi.2																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(307-309)Cct>Tct		Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.							92	88	89					17																	42225478		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225478C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.307C>T	17.37:g.42225478C>T	ENSP00000313500:p.Pro103Ser					C17orf53_uc010czq.2_Missense_Mutation_p.P103S|C17orf53_uc002ifj.2_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_Non-coding_Transcript	p.P103S	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	2	544	+		Breast(137;0.0364)|Prostate(33;0.0376)	103					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.307C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074782	0.55646	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.52754	0.65;0.65	5.28	4.32	0.51571	.	0.117452	0.39274	N	0.001406	T	0.60261	0.2255	L	0.58101	1.795	0.09310	N	1	D;P;D	0.89917	1.0;0.886;0.999	D;B;D	0.91635	0.999;0.381;0.974	T	0.51779	-0.8662	10	0.66056	D	0.02	-11.7434	7.3656	0.26770	0.0:0.7429:0.1688:0.0883	.	103;103;103	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	103	ENSP00000313500:P103S;ENSP00000245382:P103S	ENSP00000245382:P103S	P	+	1	0	C17orf53	39581004	0.201000	0.23410	0.097000	0.21041	0.103000	0.19146	2.245000	0.43133	1.464000	0.47987	0.561000	0.74099	CCT		0.577	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		T	42225478	C	T	42225478	3	4	131	1	0	0	0	0	1	0	0	0	1862	739	26	3	317	3	C17orf53	17	42225478	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	10874456	42225478	38969732	66	8990											
CTDP1	9150	broad.mit.edu	37	chr18	77513692	77513692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagaggacgccgccagcGagtccagcagggagtccagc	11	3	15	12	3	0	2	0	1	0	1	2	5	2	4	4	2	3	1	4	2	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr18:77513692G>A	ENST00000299543.7	+	13	2935	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	930					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCGCCAGCGAGTCCAGCAG	0.617																																						uc002lnh.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2788-2790)Gag>Aag		Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.							48	49	49					18																	77513692		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77513692G>A	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2788G>A	18.37:g.77513692G>A	ENSP00000299543:p.Glu930Lys					CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Missense_Mutation_p.E811K	p.E930K	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	12	2935	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	930					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2788G>A	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844939	0.91197	.	.	ENSG00000060069	ENST00000299543	T	0.58506	0.33	5.27	5.27	0.74061	FCP1-like phosphatase, C-terminal (1);	0.371380	0.29486	N	0.012005	T	0.64271	0.2583	L	0.60455	1.87	0.80722	D	1	D	0.57571	0.98	P	0.51385	0.668	T	0.59804	-0.7385	10	0.19590	T	0.45	-10.6556	18.8831	0.92364	0.0:0.0:1.0:0.0	.	930	Q9Y5B0	CTDP1_HUMAN	K	930	ENSP00000299543:E930K	ENSP00000299543:E930K	E	+	1	0	CTDP1	75614680	1.000000	0.71417	0.612000	0.29024	0.835000	0.47333	5.892000	0.69790	2.454000	0.82982	0.655000	0.94253	GAG		0.617	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		A	77513692	G	A	77513692	3	1	131	1	0	0	0	0	1	0	0	0	4002	1059	37	2	2838	2	CTDP1	18	77513692	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		77513692	563556	67	8991											
MATK	4145	broad.mit.edu	37	chr19	3783948	3783948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcgccggggtggcgcgcgGactcccgcaccaggaacagc	7	3	16	15	6	0	0	0	0	0	0	2	2	1	2	3	5	2	1	3	5	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:3783948G>T	ENST00000310132.6	-	6	844	c.446C>A	c.(445-447)tCc>tAc	p.S149Y	MATK_ENST00000585778.1_Missense_Mutation_p.S149Y|MATK_ENST00000395045.2_Missense_Mutation_p.S150Y|MATK_ENST00000395040.2_Missense_Mutation_p.S108Y	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	149	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCGCGGACTCCCGCAC	0.682																																						uc002lyt.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(445-447)tCc>tAc		Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.							28	26	27					19																	3783948		2202	4295	6497	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783948G>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.446C>A	19.37:g.3783948G>T	ENSP00000308734:p.Ser149Tyr					MATK_uc002lyv.3_Missense_Mutation_p.S150Y|MATK_uc002lyu.3_Missense_Mutation_p.S108Y|MATK_uc010dtq.3_Missense_Mutation_p.S149Y	p.S149Y	NM_139355	NP_647611	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	846	-		Hepatocellular(1079;0.137)	149			SH2.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.446C>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	15.99	2.995381	0.54147	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.95103	-3.61;-3.61;-3.61	4.8	4.8	0.61643	SH2 motif (5);	0.146268	0.47455	D	0.000240	D	0.98469	0.9490	H	0.98682	4.3	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99853	1.1074	10	0.87932	D	0	-24.2917	16.8631	0.86023	0.0:0.0:1.0:0.0	.	149;150;149	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	Y	150;149;108	ENSP00000378485:S150Y;ENSP00000308734:S149Y;ENSP00000378481:S108Y	ENSP00000308734:S149Y	S	-	2	0	MATK	3734948	1.000000	0.71417	0.853000	0.33588	0.159000	0.22180	3.947000	0.56652	2.214000	0.71695	0.556000	0.70494	TCC		0.682	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		T	3783948	G	T	3783948	3	4	131	1	0	0	0	0	1	0	0	0	9332	1174	41	5	1113	5	MATK	19	3783948	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		3783948	55345035	68	8992											
NCAN	1463	broad.mit.edu	37	chr19	19351446	19351446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacgtggatcggcctgaaCgacaggatcgtggagagaga	13	5	15	8	4	0	3	0	1	0	2	2	8	0	5	1	4	2	0	1	4	2	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:19351446C>T	ENST00000252575.6	+	12	3543	c.3444C>T	c.(3442-3444)aaC>aaT	p.N1148N	NCAN_ENST00000538881.1_Silent_p.N599N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1148	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCGGCCTGAACGACAGGATCG	0.637																																						uc002nlz.3																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3442-3444)aaC>aaT		Homo sapiens neurocan (NCAN), mRNA.							151	106	121					19																	19351446		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19351446C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3444C>T	19.37:g.19351446C>T						NCAN_uc002nma.3_5'UTR	p.N1148N	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3543	+			1148			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3444C>T	CCDS12397.1																																																																																				0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		T	19351446	C	T	19351446	2	4	131	1	0	0	0	0	0	0	0	1	10204	535	19	1		1	NCAN	19	19351446	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	15567498	19351446	39777537	69	8993											
NR1H2	7376	broad.mit.edu	37	chr19	50882422	50882423	+	Frame_Shift_Ins	INS	-	-	G																															gaccagatcgccctcctgaaINSggcatccactatcgaggtaa																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:50882422_50882423insG	ENST00000253727.5	+	7	1146_1147	c.911_912insG	c.(910-915)aaggcafs	p.A305fs	NR1H2_ENST00000599105.1_Frame_Shift_Ins_p.A261fs|NR1H2_ENST00000411902.2_Frame_Shift_Ins_p.A208fs|NR1H2_ENST00000542413.1_Frame_Shift_Ins_p.A36fs|NR1H2_ENST00000593926.1_Frame_Shift_Ins_p.A305fs|NR1H2_ENST00000598168.1_Frame_Shift_Ins_p.A275fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	305	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCCTCCTGAAGGCATCCACTA	0.574																																						uc010enw.3																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(910-912)aagfs		Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.																																				SO:0001589	frameshift_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882422_50882423insG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.913dupG	19.37:g.50882424_50882424dupG	ENSP00000253727:p.Ala305fs					NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.K207fs	p.K304fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	1380_1381	+		all_neural(266;0.057)	304			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Ins	INS	ENST00000253727.5	37	c.911_912insG	CCDS42593.1																																																																																				0.574	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			G	50882423	-	G	50882422	7	5	131	1	0	1	1	0	0	0	0	0	10617	72	3	0	929	0	NR1H2	19	50882422	Frame_Shift_Ins	INS	-	TCGA-14-0790-01B-01D-1494-08	31530976	50882422	8246561	70	8994											
KIR2DL1	3811	broad.mit.edu	37	chr19	55284915	55284915	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaggggatgtttaaCgacactttgcgcctcattgg	10	10	12	9	2	1	1	1	0	0	1	1	4	1	2	1	3	2	1	1	3	1	4	rs144426670	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:55284915C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Silent_p.N67N|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517																																						uc010erz.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(199-201)aaC>aaT		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.		C		1,4347		0,1,2173	97	85	89		201	-2.5	0	19	dbSNP_134	89	1,8377		0,1,4188	no	coding-synonymous	KIR2DL1	NM_014218.2		0,2,6361	TT,TC,CC		0.0119,0.023,0.0157		67/349	55284915	2,12724	2174	4189	6363	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284915C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44074C>T	19.37:g.55284915C>T						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.N67N	p.N67N	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	239	+			67			Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.201C>T																																																																																					0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		T	55284915	C	T	55284915	1	4	131	0	1	0	0	0	0	0	0	0	8316	535	19	1		1	KIR2DL1	19	55284915	Intron	SNP	C	TCGA-14-0790-01B-01D-1494-08	4402493	55284915	3844068	71	8995											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565272	58565272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagggcccccgggagtcCgtcccacccagggatggagc	8	3	15	15	2	0	0	0	0	0	0	2	3	2	3	5	4	2	1	5	4	1	0	rs144381428		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:58565272C>T	ENST00000282326.1	+	6	1327	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	360					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662																																						uc002qrc.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1078-1080)tcC>tcT		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.		C		0,4406		0,0,2203	32	34	33		1080	0	0	19	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		360/409	58565272	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565272C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1080C>T	19.37:g.58565272C>T							p.S360S	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	1327	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	360					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.1080C>T	CCDS12969.1																																																																																				0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58565272	C	T	58565272	2	4	131	1	0	0	0	0	0	0	0	1	18223	639	23	2		2	ZSCAN1	19	58565272	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	3280357	58565272	563711	72	8996											
CRYBB2	1415	broad.mit.edu	37	chr22	25627599	25627599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccagtaccccggctacCgtgggctgcagtacctgctg	6	8	12	15	2	0	0	0	0	0	0	0	0	0	0	5	2	6	7	5	2	4	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr22:25627599C>T	ENST00000398215.2	+	6	649	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	160	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCCCGGCTACCGTGGGCTGCA	0.637																																						uc003abp.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(478-480)Cgt>Tgt		Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.							94	90	91					22																	25627599		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627599C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.478C>T	22.37:g.25627599C>T	ENSP00000381273:p.Arg160Cys						p.R160C	NM_000496	NP_000487	P43320	CRBB2_HUMAN			5	526	+			160			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.478C>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.956035	0.34471	.	.	ENSG00000244752	ENST00000398215	T	0.78707	-1.2	4.22	4.22	0.49857	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.051314	0.85682	D	0.000000	D	0.86952	0.6057	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	D	0.88456	0.3052	10	0.72032	D	0.01	.	10.7635	0.46279	0.3226:0.6774:0.0:0.0	.	160	P43320	CRBB2_HUMAN	C	160	ENSP00000381273:R160C	ENSP00000381273:R160C	R	+	1	0	CRYBB2	23957599	1.000000	0.71417	0.994000	0.49952	0.048000	0.14542	2.752000	0.47516	1.884000	0.54569	0.462000	0.41574	CGT		0.637	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		T	25627599	C	T	25627599	3	4	131	1	0	0	0	0	1	0	0	0	3911	652	23	2	496	2	CRYBB2	22	25627599	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		25627599	25676967	73	8997											
ARHGAP6	395	broad.mit.edu	37	chrX	11160414	11160414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccaagttccccagatatcGaaaggctcctctgacagatc	11	9	8	13	1	1	3	0	1	1	2	5	4	3	3	4	1	1	2	4	1	3	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:11160414G>A	ENST00000337414.4	-	12	3068	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ARHGAP6_ENST00000534860.1_Silent_p.F557F|ARHGAP6_ENST00000380736.1_Silent_p.F529F|ARHGAP6_ENST00000303025.6_Silent_p.F529F	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	732					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATATCGAAAGGCTCCT	0.318																																						uc004cup.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2194-2196)ttC>ttT		Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.							89	87	88					X																	11160414		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11160414G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2196C>T	X.37:g.11160414G>A						ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	p.F732F	NM_013427	NP_038286	O43182	RHG06_HUMAN			11	3069	-			732					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2196C>T	CCDS14140.1																																																																																				0.318	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		A	11160414	G	A	11160414	2	1	131	1	0	0	0	0	0	0	0	1	887	1049	37	2		2	ARHGAP6	23	11160414	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08		11160414	144110146	74	8998											
SCML2	10389	broad.mit.edu	37	chrX	18348708	18348708	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattactttaaaacctaccCctttgtacagaagatgtact	15	13	4	9	0	0	2	0	0	0	2	0	2	0	2	3	0	5	2	3	0	8	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:18348708C>T	ENST00000251900.4	-	3	249	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	30					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AAAACCTACCCCTTTGTACAG	0.308																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.e3+1		Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.							73	65	68					X																	18348708		2202	4299	6501	SO:0001630	splice_region_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18348708C>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.91+1G>A	X.37:g.18348708C>T						SCML2_uc004cyk.3_Splice_Site|SCML2_uc010nfd.1_Splice_Site_p.D31_splice|SCML2_uc011miz.1_Intron	p.D31_splice	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			3	248	-	Hepatocellular(33;0.183)		31					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.91_splice	CCDS14185.1																																																																																				0.308	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	Silent	T	18348708	C	T	18348708	5	4	131	1	0	0	0	0	0	0	1	0	13910	637	22	3	2064	3	SCML2	23	18348708	Splice_Site	SNP	C	TCGA-14-0790-01B-01D-1494-08	7188294	18348708	136921852	75	8999											
DCAF8L2	347442	broad.mit.edu	37	chrX	27765650	27765650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaggcctgtggggcaagagCctttgtgcagcgtttccgcc	5	10	15	11	2	0	2	0	1	0	1	1	2	1	2	4	3	3	3	4	3	1	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:27765650C>A	ENST00000451261.2	+	5	1037	c.638C>A	c.(637-639)gCc>gAc	p.A213D		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	213										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGGGCAAGAGCCTTTGTGCAG	0.592																																						uc011mjy.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(637-639)gCc>gAc		Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.							68	55	59					X																	27765650		692	1591	2283	SO:0001583	missense	347442							g.chrX:27765650C>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.638C>A	X.37:g.27765650C>A	ENSP00000462745:p.Ala213Asp						p.A213D	NM_001136533	NP_001130005					0	725	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.638C>A	CCDS59162.1																																																																																				0.592	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765650	C	A	27765650	3	1	131	1	0	0	0	0	1	0	0	0	4278	739	26	5	640	5	DCAF8L2	23	27765650	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	9416942	27765650	127504910	76	9000											
FAM47C	442444	broad.mit.edu	37	chrX	37028542	37028542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagcctccagagactcgcGtatctcatctccgcccagag	8	7	10	16	4	2	2	1	0	2	2	6	4	3	3	4	1	1	1	4	1	1	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:37028542G>A	ENST00000358047.3	+	1	2111	c.2059G>A	c.(2059-2061)Gta>Ata	p.V687I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	687										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.657																																						uc004ddl.2																			0		p.R686H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2059-2061)Gta>Ata		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							33	32	32					X																	37028542		2202	4293	6495	SO:0001583	missense	442444							g.chrX:37028542G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2059G>A	X.37:g.37028542G>A	ENSP00000367913:p.Val687Ile						p.V687I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	2111	+			687					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2059G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	8.665	0.901476	0.17760	.	.	ENSG00000198173	ENST00000358047	T	0.18502	2.21	0.933	0.933	0.19471	.	.	.	.	.	T	0.16769	0.0403	M	0.66939	2.045	0.09310	N	1	P	0.44734	0.842	B	0.38755	0.281	T	0.12268	-1.0554	9	0.37606	T	0.19	.	7.6002	0.28071	1.0E-4:0.0:0.9999:0.0	.	687	Q5HY64	FA47C_HUMAN	I	687	ENSP00000367913:V687I	ENSP00000367913:V687I	V	+	1	0	FAM47C	36938463	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.021000	0.30040	0.161000	0.19458	0.162000	0.16502	GTA		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028542	G	A	37028542	3	1	131	1	0	0	0	0	1	0	0	0	5571	1145	40	1	2061	1	FAM47C	23	37028542	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	9262892	37028542	118242018	77	9001											
BCORL1	63035	broad.mit.edu	37	chrX	129149265	129149265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccccgtaccaccaggcGtctctgctttccattggcat	5	12	9	15	2	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	1	3	rs201695526		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:129149265G>A	ENST00000218147.7	+	4	2714	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	BCORL1_ENST00000359304.2_Silent_p.A839A|BCORL1_ENST00000303743.5_Silent_p.A839A|BCORL1_ENST00000540052.1_Silent_p.A839A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	839					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACCACCAGGCGTCTCTGCTTT	0.607																																						uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2515-2517)gcG>gcA		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							49	53	51					X																	129149265		2202	4294	6496	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149265G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2517G>A	X.37:g.129149265G>A						BCORL1_uc010nrd.1_Silent_p.A741A	p.A839A	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			2	2561	+			839					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2517G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.279455	0.01410	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.36702	D	0.880174	.	.	.	.	.	.	T	0.56529	-0.7964	4	.	.	.	-0.5946	9.7379	0.40399	0.1524:0.1205:0.6509:0.0762	.	.	.	.	I	275	.	.	V	+	1	0	BCORL1	128976946	0.001000	0.12720	0.052000	0.19188	0.402000	0.30811	-1.063000	0.03465	-1.709000	0.01399	-1.261000	0.01458	GTC		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129149265	G	A	129149265	2	1	131	1	0	0	0	0	0	0	0	1	1387	1132	40	1		1	BCORL1	23	129149265	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	92120723	129149265	26121295	78	9002											
GPR112	139378	broad.mit.edu	37	chrX	135485475	135485475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaactctgagcccaacaaCtccgttgtaagtaccagcat	12	9	8	12	1	1	1	0	1	1	0	2	2	2	2	3	1	6	4	3	1	5	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135485475C>A	ENST00000394143.1	+	22	8939	c.8648C>A	c.(8647-8649)aCt>aAt	p.T2883N	GPR112_ENST00000412101.1_Missense_Mutation_p.T2678N|GPR112_ENST00000394141.1_Missense_Mutation_p.T2678N|GPR112_ENST00000287534.4_Missense_Mutation_p.T2636N|GPR112_ENST00000370652.1_Missense_Mutation_p.T2883N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2883					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCCAACAACTCCGTTGTAA	0.498																																						uc004ezu.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8647-8649)aCt>aAt		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							123	82	96					X																	135485475		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485475C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8648C>A	X.37:g.135485475C>A	ENSP00000377699:p.Thr2883Asn					GPR112_uc010nsb.1_Missense_Mutation_p.T2678N	p.T2883N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			21	8939	+	Acute lymphoblastic leukemia(192;0.000127)		2883					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8648C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377817	0.24944	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.67	4.81	0.61882	GPCR, family 2-like (1);	.	.	.	.	T	0.44435	0.1293	L	0.38953	1.18	0.09310	N	1	D;B	0.59357	0.985;0.178	D;P	0.63703	0.917;0.67	T	0.24190	-1.0167	9	0.51188	T	0.08	.	7.333	0.26594	0.0:0.7414:0.1659:0.0926	.	2678;2883	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	N	2883;2883;2678;2636;2678	ENSP00000377699:T2883N;ENSP00000359686:T2883N;ENSP00000416526:T2678N;ENSP00000287534:T2636N;ENSP00000377697:T2678N	ENSP00000287534:T2636N	T	+	2	0	GPR112	135313141	0.010000	0.17322	0.020000	0.16555	0.223000	0.24884	1.682000	0.37628	1.262000	0.44165	0.600000	0.82982	ACT		0.498	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135485475	C	A	135485475	3	1	131	1	0	0	0	0	1	0	0	0	6629	565	20	5	8722	5	GPR112	23	135485475	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	6336210	135485475	19785085	79	9003											
RBMX	27316	broad.mit.edu	37	chrX	135961572	135961572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagagctttcctgggcgAtctgcttcaaccatgttttt	8	15	9	9	1	2	2	1	1	1	1	3	3	3	2	2	1	3	3	2	1	2	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135961572A>T	ENST00000320676.7	-	2	169	c.15T>A	c.(13-15)gaT>gaA	p.D5E	RBMX_ENST00000562646.1_Missense_Mutation_p.D5E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.D5E|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	5					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGGGCGATCTGCTTCAA	0.403																																						uc004fae.2																			0		p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(13-15)gaT>gaA		Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.							92	86	88					X																	135961572		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961572A>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.15T>A	X.37:g.135961572A>T	ENSP00000359645:p.Asp5Glu					RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	p.D5E	NM_002139	NP_002130	P38159	HNRPG_HUMAN			1	225	-	Acute lymphoblastic leukemia(192;0.000127)		5					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.15T>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	16.29	3.082022	0.55861	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	T;T	0.78707	3.2;-1.2	4.66	2.29	0.28610	.	0.000000	0.85682	U	0.000000	T	0.67730	0.2924	L	0.38175	1.15	0.80722	D	1	P;B;P	0.48089	0.869;0.015;0.905	B;B;B	0.44224	0.418;0.056;0.444	T	0.65302	-0.6201	10	0.56958	D	0.05	.	7.8416	0.29402	0.8256:0.0:0.1744:0.0	.	5;5;5	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	E	5	ENSP00000411989:D5E;ENSP00000359645:D5E	ENSP00000359645:D5E	D	-	3	2	RBMX	135789238	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.352000	0.44080	0.495000	0.27882	0.413000	0.27773	GAT		0.403	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135961572	A	T	135961572	3	4	131	1	0	0	0	0	1	0	0	0	13151	330	12	5	1247	5	RBMX	23	135961572	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	476097	135961572	19308988	80	9004											
MASP2	10747	broad.mit.edu	37	chr1	11107017	11107017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaagtagaggcgcaggcgGtagccggggggtgcagtcag	8	5	21	7	3	1	2	1	1	0	1	1	2	1	2	1	6	2	4	1	6	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:11107017G>A	ENST00000400897.3	-	2	180	c.165C>T	c.(163-165)taC>taT	p.Y55Y	MASP2_ENST00000400898.3_Silent_p.Y55Y	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	55	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGCAGGCGGTAGCCGGGGG	0.657																																					GBM(35;611 746 20780 22741 36496)	uc001aru.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(163-165)taC>taT		Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.							22	27	25					1																	11107017		2186	4277	6463	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11107017G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.165C>T	1.37:g.11107017G>A						MASP2_uc001arv.3_Silent_p.Y55Y|MASP2_uc001arw.3_Silent_p.Y55Y|MASP2_uc001arx.2_Silent_p.Y55Y	p.Y55Y	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	1	197	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	55			CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.165C>T	CCDS123.1																																																																																				0.657	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		A	11107017	G	A	11107017	2	1	132	1	0	0	0	0	0	0	0	1	9323	1256	44	3		3	MASP2	1	11107017	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08		11107017	238143604	1	9005											
ZNF362	149076	broad.mit.edu	37	chr1	33745906	33745906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcctggactccatcaaGacaatccagggccacggcct	9	7	8	17	1	2	1	1	0	1	1	5	2	4	2	6	3	0	0	6	3	2	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:33745906G>C	ENST00000539719.1	+	5	701	c.531G>C	c.(529-531)aaG>aaC	p.K177N	ZNF362_ENST00000373428.5_Missense_Mutation_p.K177N	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACTCCATCAAGACAATCCAGG	0.667																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(529-531)aaG>aaC		Homo sapiens zinc finger protein 362 (ZNF362), mRNA.							65	61	63					1																	33745906		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745906G>C		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.531G>C	1.37:g.33745906G>C	ENSP00000446335:p.Lys177Asn						p.K177N	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			4	701	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	177					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.531G>C	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338092	0.60963	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.07567	3.18;3.18	5.99	5.99	0.97316	.	0.468769	0.18082	N	0.152272	T	0.14270	0.0345	M	0.63428	1.95	0.48135	D	0.999593	P	0.43477	0.808	B	0.39706	0.307	T	0.00636	-1.1633	10	0.72032	D	0.01	-20.7364	18.0311	0.89285	0.0:0.0:1.0:0.0	.	177	Q5T0B9	ZN362_HUMAN	N	164;177;177	ENSP00000446335:K177N;ENSP00000362527:K177N	ENSP00000362527:K177N	K	+	3	2	ZNF362	33518493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.584000	0.60971	2.857000	0.98124	0.650000	0.86243	AAG		0.667	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		C	33745906	G	C	33745906	3	2	132	1	0	0	0	0	1	0	0	0	17865	933	33	5	545	5	ZNF362	1	33745906	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	22638889	33745906	215504715	2	9006											
KLF17	128209	broad.mit.edu	37	chr1	44595485	44595485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctccagtgccttaccctgGcctctcgacagtaccttctg	5	11	7	18	1	2	0	0	0	2	0	4	1	3	0	6	1	3	1	6	1	2	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:44595485G>A	ENST00000372299.3	+	2	600	c.542G>A	c.(541-543)gGc>gAc	p.G181D	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	181					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTTACCCTGGCCTCTCGACA	0.597																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(541-543)gGc>gAc		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							58	60	59					1																	44595485		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595485G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.542G>A	1.37:g.44595485G>A	ENSP00000361373:p.Gly181Asp					KLF17_uc009vxf.1_Missense_Mutation_p.G144D	p.G181D	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			1	600	+	Acute lymphoblastic leukemia(166;0.155)		181					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.542G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233609	0.22626	.	.	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.63	-3.54	0.04653	.	1.892480	0.02554	N	0.096010	T	0.07728	0.0194	L	0.32530	0.975	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	T	0.30592	-0.9973	10	0.22109	T	0.4	.	3.9864	0.09517	0.4646:0.0:0.2469:0.2884	.	181	Q5JT82	KLF17_HUMAN	D	181	ENSP00000361373:G181D	ENSP00000361373:G181D	G	+	2	0	KLF17	44368072	0.005000	0.15991	0.001000	0.08648	0.009000	0.06853	-0.446000	0.06837	-0.688000	0.05155	-0.157000	0.13467	GGC		0.597	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		A	44595485	G	A	44595485	3	1	132	1	0	0	0	0	1	0	0	0	8345	1203	42	3	548	3	KLF17	1	44595485	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	10849579	44595485	204655136	3	9007											
LRRC7	57554	broad.mit.edu	37	chr1	70489054	70489054	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctctctaagtggcagAcaggtaggcctaggtgtctg	7	11	12	11	0	2	1	0	0	2	1	4	1	3	1	2	4	0	2	2	4	3	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:70489054A>T	ENST00000035383.5	+	15	1707	c.1677A>T	c.(1675-1677)agA>agT	p.R559S	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.R564S|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	559						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAGTGGCAGACAGGTAGGCC	0.507																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1675-1677)agA>agT		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							106	106	106					1																	70489054		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70489054A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1677A>T	1.37:g.70489054A>T	ENSP00000035383:p.Arg559Ser					LRRC7_uc009wbg.3_Intron	p.R559S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			14	1707	+			559					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1677A>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036120	0.35893	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.35789	1.29;1.36	5.86	5.86	0.93980	.	0.216246	0.41396	D	0.000887	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19679	-1.0298	10	0.17369	T	0.5	.	12.6427	0.56718	1.0:0.0:0.0:0.0	.	559	Q96NW7	LRRC7_HUMAN	S	564;559;382	ENSP00000309245:R564S;ENSP00000035383:R559S	ENSP00000035383:R559S	R	+	3	2	LRRC7	70261642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.214000	0.58527	2.239000	0.73571	0.477000	0.44152	AGA		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		T	70489054	A	T	70489054	3	4	132	1	0	0	0	0	1	0	0	0	9020	272	10	5	1735	5	LRRC7	1	70489054	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	25893569	70489054	178761567	4	9008											
NEGR1	257194	broad.mit.edu	37	chr1	72400892	72400892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttttattcaatgttgaAattgaaactcgaggatccac	12	14	6	9	1	1	2	1	2	0	0	4	4	3	3	2	1	1	1	2	1	4	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:72400892A>C	ENST00000357731.5	-	2	518	c.279T>G	c.(277-279)atT>atG	p.I93M	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_De_novo_Start_InFrame|NEGR1_ENST00000434200.1_Missense_Mutation_p.I91M	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	93	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAATGTTGAAATTGAAACTC	0.443																																						uc001dfw.3																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(277-279)atT>atG		Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.							113	109	110					1																	72400892		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400892A>C	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.279T>G	1.37:g.72400892A>C	ENSP00000350364:p.Ile93Met					NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.I93M	p.I93M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	507	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	93			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.279T>G	CCDS661.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316629	0.60524	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.68624	-0.34;-0.34	5.71	3.29	0.37713	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.67625	2.065	0.40003	D	0.975189	D;P	0.63046	0.992;0.938	D;P	0.71184	0.972;0.81	T	0.72513	-0.4270	10	0.62326	D	0.03	-10.5825	9.063	0.36447	0.7731:0.0:0.2269:0.0	.	91;93	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	M	93;91	ENSP00000350364:I93M;ENSP00000413294:I91M	ENSP00000350364:I93M	I	-	3	3	NEGR1	72173480	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.449000	0.52950	1.023000	0.39654	0.533000	0.62120	ATT		0.443	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		C	72400892	A	C	72400892	3	2	132	1	0	0	0	0	1	0	0	0	10317	10	1	5	809	5	NEGR1	1	72400892	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	1911838	72400892	176849729	5	9009											
MOV10	4343	broad.mit.edu	37	chr1	113232671	113232671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcggacccggatcaccGgaaaccctgtggtgaccaat	11	6	11	13	3	2	1	2	1	0	0	2	4	2	4	4	4	2	0	4	4	3	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:113232671G>A	ENST00000413052.2	+	5	1177	c.787G>A	c.(787-789)Gga>Aga	p.G263R	MOV10_ENST00000369644.1_Missense_Mutation_p.G207R|MOV10_ENST00000369645.1_Missense_Mutation_p.G263R|MOV10_ENST00000357443.2_Missense_Mutation_p.G263R|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	263					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGGATCACCGGAAACCCTGT	0.602																																						uc001eck.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(787-789)Gga>Aga		Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.							62	65	64					1																	113232671		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113232671G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.787G>A	1.37:g.113232671G>A	ENSP00000399797:p.Gly263Arg					MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.3_Missense_Mutation_p.G263R|MOV10_uc001ecm.3_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	p.G263R	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	4	1057	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	263					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.787G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261354	0.23051	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.77	-2.12	0.07165	.	0.991514	0.08222	N	0.978943	T	0.45856	0.1363	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49062	-0.8978	10	0.12430	T	0.62	0.5796	5.7511	0.18148	0.4505:0.3292:0.2203:0.0	.	207;263;263	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	R	263;263;263;207;263;201	ENSP00000399797:G263R;ENSP00000358659:G263R;ENSP00000358658:G207R;ENSP00000350028:G263R	ENSP00000285733:G263R	G	+	1	0	MOV10	113034194	0.000000	0.05858	0.038000	0.18304	0.610000	0.37248	-0.199000	0.09491	-0.282000	0.09128	0.561000	0.74099	GGA		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		A	113232671	G	A	113232671	3	1	132	1	0	0	0	0	1	0	0	0	9718	1117	39	2	801	2	MOV10	1	113232671	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	40831779	113232671	136017950	6	9010											
INSRR	3645	broad.mit.edu	37	chr1	156816384	156816384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcctcagtggttagCgtgatggcccgcacaaacac	8	9	10	14	2	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:156816384C>T	ENST00000368195.3	-	8	2133	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	579	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGTGGTTAGCGTGATGGCCC	0.607																																						uc010pht.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1735-1737)acG>acA		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.							133	97	109					1																	156816384		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156816384C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1737G>A	1.37:g.156816384C>T						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.T579T	NM_014215	NP_055030	P14616	INSRR_HUMAN			7	2036	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		579			Fibronectin type-III 1.		O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1737G>A	CCDS1160.1																																																																																				0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156816384	C	T	156816384	2	4	132	1	0	0	0	0	0	0	0	1	7774	755	27	1		1	INSRR	1	156816384	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	43583713	156816384	92434237	7	9011											
OR10Z1	128368	broad.mit.edu	37	chr1	158576316	158576316	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagctccttctctttgccTtgttcctctctctgtatcta	3	19	5	14	0	4	0	0	0	4	0	8	0	6	0	3	0	3	4	3	0	2	6			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:158576316T>C	ENST00000361284.1	+	1	88	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTTTGCCTTGTTCCTCTC	0.502																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(88-90)Ttg>Ctg		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.							189	182	185					1																	158576316		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576316T>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.88T>C	1.37:g.158576316T>C							p.L30L	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			0	88	+	all_hematologic(112;0.0378)		30					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.88T>C	CCDS30901.1																																																																																				0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		C	158576316	T	C	158576316	2	2	132	1	0	0	0	0	0	0	0	1	10923	1606	56	4		4	OR10Z1	1	158576316	Silent	SNP	T	TCGA-14-0813-01A-01W-0424-08	1759932	158576316	90674305	8	9012											
ATF6	22926	broad.mit.edu	37	chr1	161816315	161816315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccttctaggatttTctgctaaagaggcacaggac	11	9	12	9	0	2	1	0	0	2	1	2	4	2	4	1	5	1	3	1	5	3	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:161816315T>C	ENST00000367942.3	+	10	1331	c.1264T>C	c.(1264-1266)Tct>Cct	p.S422P	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	422					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TCTAGGATTTTCTGCTAAAGA	0.403																																						uc001gbs.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1264-1266)Tct>Cct		Homo sapiens activating transcription factor 6 (ATF6), mRNA.							114	109	110					1																	161816315		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161816315T>C	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1264T>C	1.37:g.161816315T>C	ENSP00000356919:p.Ser422Pro					ATF6_uc001gbq.2_Missense_Mutation_p.S422P	p.S422P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		9	1381	+	all_hematologic(112;0.156)		422					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1264T>C	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014593	0.75161	.	.	ENSG00000118217	ENST00000367942	T	0.18810	2.19	5.1	5.1	0.69264	.	0.055853	0.85682	D	0.000000	T	0.28896	0.0717	M	0.66939	2.045	0.46798	D	0.999208	D;D	0.76494	0.999;0.981	D;P	0.64042	0.921;0.767	T	0.11470	-1.0586	9	0.45353	T	0.12	-14.3113	11.5645	0.50796	0.0:0.0:0.0:1.0	.	422;423	P18850;Q59H30	ATF6A_HUMAN;.	P	422	ENSP00000356919:S422P	ENSP00000356919:S422P	S	+	1	0	ATF6	160082939	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.000000	0.57039	2.042000	0.60477	0.443000	0.29094	TCT		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		C	161816315	T	C	161816315	3	2	132	1	0	0	0	0	1	0	0	0	1084	1783	62	4	1302	4	ATF6	1	161816315	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	3239999	161816315	87434306	9	9013											
GORAB	92344	broad.mit.edu	37	chr1	170511696	170511696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatggaagagaaaaataaaCgtaaaaaagctcttttggct	19	10	8	4	1	1	1	0	0	1	1	1	3	1	2	0	2	2	3	0	2	9	5	rs368371528		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:170511696C>T	ENST00000367763.3	+	3	579	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	GORAB_ENST00000367762.1_Missense_Mutation_p.R187C	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	187						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAAATAAACGTAAAAAAGC	0.398																																						uc001gha.2																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(559-561)Cgt>Tgt		Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	132	139	137		559,559	5	1	1		137	0,8600		0,0,4300	no	missense,missense	GORAB	NM_001146039.1,NM_152281.2	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	187/247,187/395	170511696	2,13004	2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170511696C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.559C>T	1.37:g.170511696C>T	ENSP00000356737:p.Arg187Cys					GORAB_uc001ggz.4_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	p.R187C	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			2	586	+			187					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.559C>T	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025972	0.75390	4.54E-4	0.0	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.65732	-0.17;-0.17	5.88	4.97	0.65823	.	0.170051	0.53938	D	0.000060	T	0.70902	0.3277	M	0.76574	2.34	0.53688	D	0.999973	D	0.89917	1.0	D	0.63597	0.916	T	0.76870	-0.2799	10	0.87932	D	0	-13.7561	14.6504	0.68792	0.0:0.9298:0.0:0.0702	.	187	Q5T7V8	GORAB_HUMAN	C	187	ENSP00000356737:R187C;ENSP00000356736:R187C	ENSP00000356736:R187C	R	+	1	0	GORAB	168778320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.453000	0.66645	1.496000	0.48567	-0.136000	0.14681	CGT		0.398	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		T	170511696	C	T	170511696	3	4	132	1	0	0	0	0	1	0	0	0	6574	536	19	1	569	1	GORAB	1	170511696	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	8695381	170511696	78738925	10	9014											
PAPPA2	60676	broad.mit.edu	37	chr1	176526282	176526282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcggctgctgctgcGtccagaagtgctggctgaga	6	7	18	10	3	0	2	0	1	0	2	1	4	1	3	1	3	5	5	1	3	1	0	rs548559188		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:176526282G>A	ENST00000367662.3	+	2	1988	c.824G>A	c.(823-825)cGt>cAt	p.R275H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R275H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	275					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCTGCTGCGTCCAGAAGTG	0.577																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(823-825)cGt>cAt		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							31	31	31					1																	176526282		1925	4139	6064	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526282G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.824G>A	1.37:g.176526282G>A	ENSP00000356634:p.Arg275His					PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.3_Non-coding_Transcript	p.R275H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			1	1988	+			275					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.824G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916414	0.73098	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73469	-0.75;-0.75	4.58	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.326765	0.29028	N	0.013379	T	0.81307	0.4795	L	0.59436	1.845	0.33883	D	0.636403	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.973	D	0.85126	0.0972	10	0.56958	D	0.05	-6.6048	9.7459	0.40446	0.0999:0.0:0.9001:0.0	.	275;275	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	275	ENSP00000356634:R275H;ENSP00000356633:R275H	ENSP00000356633:R275H	R	+	2	0	PAPPA2	174792905	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.540000	0.53611	0.923000	0.37045	0.313000	0.20887	CGT		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176526282	G	A	176526282	3	1	132	1	0	0	0	0	1	0	0	0	11433	1145	40	1	826	1	PAPPA2	1	176526282	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	6014586	176526282	72724339	11	9015											
HMCN1	83872	broad.mit.edu	37	chr1	186062774	186062774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctcctcccatatccGgttactggcagcaggacaag	8	9	9	15	1	1	0	0	0	1	0	5	1	4	1	4	3	2	3	4	3	3	2	rs369620574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:186062774G>A	ENST00000271588.4	+	66	10398	c.10169G>A	c.(10168-10170)cGg>cAg	p.R3390Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3390Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3390	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCCATATCCGGTTACTGGCA	0.428																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10168-10170)cGg>cAg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							80	85	83					1																	186062774		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062774G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10169G>A	1.37:g.186062774G>A	ENSP00000271588:p.Arg3390Gln					MIR548F1_uc021pgf.1_Intron	p.R3390Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			65	10398	+			3390			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10169G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516366	0.85495	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.39514	1.22	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	T	0.68484	-0.5396	10	0.23891	T	0.37	.	13.6338	0.62210	0.0769:0.0:0.9231:0.0	.	3390	Q96RW7	HMCN1_HUMAN	Q	3390	ENSP00000271588:R3390Q;ENSP00000356462:R3390Q	ENSP00000271588:R3390Q	R	+	2	0	HMCN1	184329397	1.000000	0.71417	0.879000	0.34478	0.949000	0.60115	7.315000	0.78998	2.324000	0.78689	0.585000	0.79938	CGG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186062774	G	A	186062774	3	1	132	1	0	0	0	0	1	0	0	0	7220	1116	39	2	10431	2	HMCN1	1	186062774	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9536492	186062774	63187847	12	9016											
AVPR1B	553	broad.mit.edu	37	chr1	206224826	206224826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatgctgctggccatgaCgctggaccgctacctggctg	6	9	12	14	2	0	1	0	1	0	0	0	2	0	2	3	3	4	5	3	3	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:206224826C>T	ENST00000367126.4	+	1	851	c.386C>T	c.(385-387)aCg>aTg	p.T129M	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	129					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.T129M(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGCCATGACGCTGGACCGC	0.657																																						uc001hds.2																			2	Substitution - Missense(2)	p.T129M(4)	large_intestine(2)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(385-387)aCg>aTg		Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						61	57	58					1																	206224826		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224826C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.386C>T	1.37:g.206224826C>T	ENSP00000356094:p.Thr129Met						p.T129M	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		0	544	+			129					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.386C>T	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970759	0.74246	.	.	ENSG00000198049	ENST00000367126	T	0.73152	-0.72	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.87849	0.6281	M	0.91038	3.17	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	D	0.90204	0.4259	10	0.87932	D	0	-16.4432	18.5451	0.91043	0.0:1.0:0.0:0.0	.	129	P47901	V1BR_HUMAN	M	129	ENSP00000356094:T129M	ENSP00000356094:T129M	T	+	2	0	AVPR1B	204391449	1.000000	0.71417	0.962000	0.40283	0.998000	0.95712	5.885000	0.69736	2.704000	0.92352	0.514000	0.50259	ACG		0.657	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		T	206224826	C	T	206224826	3	4	132	1	0	0	0	0	1	0	0	0	1232	536	19	1	388	1	AVPR1B	1	206224826	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	20162052	206224826	43025795	13	9017											
CD55	1604	broad.mit.edu	37	chr1	207500170	207500170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagtggagtgacccgttgCcagagtgcagaggtaagagt	10	8	15	8	1	0	4	0	1	0	3	1	5	1	5	3	2	2	3	3	2	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:207500170C>T	ENST00000367064.3	+	5	910	c.652C>T	c.(652-654)Cca>Tca	p.P218S	CD55_ENST00000391921.4_Missense_Mutation_p.P154S|CD55_ENST00000367065.5_Missense_Mutation_p.P218S|CD55_ENST00000367062.4_Missense_Mutation_p.P218S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.P218S|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000391920.4_Missense_Mutation_p.P218S|CD55_ENST00000367063.2_Missense_Mutation_p.P218S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	218	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGACCCGTTGCCAGAGTGCAG	0.403																																						uc001hfq.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(652-654)Cca>Tca		Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	Chloramphenicol(DB00446)						143	140	141					1																	207500170		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207500170C>T	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.652C>T	1.37:g.207500170C>T	ENSP00000356031:p.Pro218Ser					CD55_uc001hfr.4_Missense_Mutation_p.P218S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P154S|CD55_uc009xce.3_Missense_Mutation_p.P218S	p.P218S	NM_000574	NP_000565	P08174	DAF_HUMAN			4	946	+			218			Sushi 3.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.652C>T	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254953	0.59321	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.080199	0.51477	D	0.000090	D	0.92485	0.7614	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;1.0	D	0.94638	0.7828	10	0.87932	D	0	.	14.0403	0.64672	0.0:1.0:0.0:0.0	.	154;218;218;218;218	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	S	218;218;154;154;218;218;218;218	ENSP00000356031:P218S;ENSP00000356030:P218S;ENSP00000375788:P154S;ENSP00000316333:P218S;ENSP00000356032:P218S;ENSP00000375787:P218S;ENSP00000356029:P218S	ENSP00000316333:P218S	P	+	1	0	CD55	205566793	0.318000	0.24598	0.063000	0.19743	0.018000	0.09664	3.182000	0.50910	2.683000	0.91414	0.650000	0.86243	CCA		0.403	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		T	207500170	C	T	207500170	3	4	132	1	0	0	0	0	1	0	0	0	3024	739	26	3	670	3	CD55	1	207500170	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	1275344	207500170	41750451	14	9018											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581433	232581433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgggcacccggtgccaCgtggtgttcctcctgaaggg	5	8	17	11	2	0	1	0	1	0	0	2	2	2	2	4	5	1	2	4	5	1	1	rs372853782		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:232581433C>T	ENST00000366630.1	-	10	3553	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	SIPA1L2_ENST00000262861.4_Silent_p.T1065T|SIPA1L2_ENST00000308942.4_Silent_p.T139T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1065					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGGTGCCACGTGGTGTTCC	0.642																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3193-3195)acG>acA		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.		C		1,3819		0,1,1909	55	62	60		3195	-8.4	0.6	1		60	0,8238		0,0,4119	no	coding-synonymous	SIPA1L2	NM_020808.3		0,1,6028	TT,TC,CC		0.0,0.0262,0.0083		1065/1723	232581433	1,12057	1910	4119	6029	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232581433C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3195G>A	1.37:g.232581433C>T						SIPA1L2_uc001hvf.3_Silent_p.T139T	p.T1065T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			8	3353	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1065					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.3195G>A	CCDS41474.1																																																																																				0.642	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232581433	C	T	232581433	2	4	132	1	0	0	0	0	0	0	0	1	14330	523	19	1		1	SIPA1L2	1	232581433	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	25081263	232581433	16669188	15	9019											
OR2L13	284521	broad.mit.edu	37	chr1	248262881	248262881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccagctctcccttatGgacctgatgtacatctccac	8	11	6	16	0	3	1	1	1	2	0	5	2	3	2	4	1	3	2	4	1	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248262881G>T	ENST00000358120.2	+	2	349	c.204G>T	c.(202-204)atG>atT	p.M68I	OR2L13_ENST00000366478.2_Missense_Mutation_p.M68I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTCCCTTATGGACCTGATGT	0.547																																						uc001ids.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(202-204)atG>atT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							231	210	217					1																	248262881		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262881G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.204G>T	1.37:g.248262881G>T	ENSP00000350836:p.Met68Ile					OR2L13_uc021pmc.1_Missense_Mutation_p.M68I	p.M68I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	541	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		68					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.204G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	7.431	0.638761	0.14386	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.02837	4.14;4.14	4.07	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00998	0.0033	N	0.01640	-0.785	0.23988	N	0.996254	P	0.36616	0.561	B	0.27380	0.079	T	0.53718	-0.8399	10	0.25106	T	0.35	.	9.0049	0.36106	0.0:0.2581:0.5985:0.1434	.	68	Q8N349	OR2LD_HUMAN	I	68	ENSP00000355434:M68I;ENSP00000350836:M68I	ENSP00000350836:M68I	M	+	3	0	OR2L13	246329504	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.713000	0.01883	2.077000	0.62373	0.650000	0.86243	ATG		0.547	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		T	248262881	G	T	248262881	3	4	132	1	0	0	0	0	1	0	0	0	11006	1348	47	5	206	5	OR2L13	1	248262881	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	15681448	248262881	987740	16	9020											
OR2T4	127074	broad.mit.edu	37	chr1	248525679	248525679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactcagcagagggccGgaaaaaggcctttgccacct	12	6	12	11	1	1	2	1	1	0	1	1	4	1	3	4	3	3	1	4	3	3	1	rs370187385		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248525679G>A	ENST00000366475.1	+	1	797	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGAGGGCCGGAAAAAGGCC	0.547																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(796-798)cGg>cAg		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.		G	GLN/ARG	0,4406		0,0,2203	124	122	122		797	-4.6	0.2	1		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T4	NM_001004696.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/349	248525679	1,13005	2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525679G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.797G>A	1.37:g.248525679G>A	ENSP00000355431:p.Arg266Gln						p.R266Q	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	797	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		266					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.797G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	7.228	0.598748	0.13939	0.0	1.16E-4	ENSG00000196944	ENST00000366475	T	0.00311	8.15	3.0	-4.61	0.03380	GPCR, rhodopsin-like superfamily (1);	0.310059	0.22819	N	0.055251	T	0.00210	0.0006	M	0.70787	2.145	0.09310	N	1	B	0.32507	0.373	B	0.28385	0.089	T	0.42207	-0.9465	10	0.56958	D	0.05	.	7.686	0.28540	0.5395:0.1134:0.3472:0.0	.	266	Q8NH00	OR2T4_HUMAN	Q	266	ENSP00000355431:R266Q	ENSP00000355431:R266Q	R	+	2	0	OR2T4	246592302	0.000000	0.05858	0.170000	0.22879	0.315000	0.28087	0.161000	0.16481	-1.049000	0.03234	-0.482000	0.04802	CGG		0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525679	G	A	248525679	3	1	132	1	0	0	0	0	1	0	0	0	11027	1116	39	2	799	2	OR2T4	1	248525679	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	262798	248525679	724942	17	9021											
NBAS	51594	broad.mit.edu	37	chr2	15417158	15417158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctggtgaaaggcttctgGatcagtcttcaaagtctcaa	10	12	11	8	0	5	1	3	1	3	0	6	2	5	2	0	3	1	2	0	3	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:15417158G>T	ENST00000281513.5	-	43	5231	c.5206C>A	c.(5206-5208)Cca>Aca	p.P1736T	NBAS_ENST00000441750.1_Missense_Mutation_p.P1616T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1736					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGGCTTCTGGATCAGTCTTC	0.398																																						uc002rcc.1																			0		p.P1736L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5206-5208)Cca>Aca		Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.							81	79	80					2																	15417158		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15417158G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5206C>A	2.37:g.15417158G>T	ENSP00000281513:p.Pro1736Thr					NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript	p.P1736T	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			42	5232	-			1736					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5206C>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493231	0.84962	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12672	2.66;2.86	5.49	5.49	0.81192	.	0.050714	0.85682	D	0.000000	T	0.41442	0.1159	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.20672	-1.0268	10	0.87932	D	0	.	19.7705	0.96361	0.0:0.0:1.0:0.0	.	1616;1736	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	T	1616;1736	ENSP00000413201:P1616T;ENSP00000281513:P1736T	ENSP00000281513:P1736T	P	-	1	0	NBAS	15334609	1.000000	0.71417	0.711000	0.30485	0.877000	0.50540	9.069000	0.93967	2.756000	0.94617	0.655000	0.94253	CCA		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15417158	G	T	15417158	3	4	132	1	0	0	0	0	1	0	0	0	10186	1174	41	5	1949	5	NBAS	2	15417158	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		15417158	227782215	18	9022											
ASXL2	55252	broad.mit.edu	37	chr2	25965918	25965918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggagatgtcttccagCtggaaacctgagtgagcgaa	10	10	13	8	1	1	3	0	2	1	1	2	6	2	4	2	2	3	1	2	2	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:25965918C>T	ENST00000435504.4	-	13	3581	c.3288G>A	c.(3286-3288)caG>caA	p.Q1096Q	ASXL2_ENST00000336112.4_Silent_p.Q1068Q|ASXL2_ENST00000404843.1_Silent_p.Q579Q|ASXL2_ENST00000272341.4_Silent_p.Q579Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1096					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCCAGCTGGAAACCTG	0.493																																						uc002rgs.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3286-3288)caG>caA		Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.							136	135	136					2																	25965918		2002	4173	6175	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965918C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3288G>A	2.37:g.25965918C>T						ASXL2_uc002rgt.1_Silent_p.Q579Q	p.Q1096Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			11	3509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1096					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.3288G>A																																																																																					0.493	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		T	25965918	C	T	25965918	2	4	132	1	0	0	0	0	0	0	0	1	1067	796	28	3		3	ASXL2	2	25965918	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	10548760	25965918	217233455	19	9023											
IL18R1	8809	broad.mit.edu	37	chr2	102984390	102984390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgaaacaaccaccaaaaGctggtacaaaagcagtggat	18	6	9	8	0	0	1	0	1	0	0	0	3	0	2	2	2	5	3	2	2	7	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:102984390G>T	ENST00000409599.1	+	4	520	c.164G>T	c.(163-165)aGc>aTc	p.S55I	IL18R1_ENST00000334376.3_Missense_Mutation_p.S55I|IL18R1_ENST00000233957.1_Missense_Mutation_p.S55I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	55	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.S55N(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCACCAAAAGCTGGTACAAA	0.448																																						uc002tbw.4																			1	Substitution - Missense(1)	p.S55N(2)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(163-165)aGc>aTc		Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.							140	131	134					2																	102984390		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102984390G>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.164G>T	2.37:g.102984390G>T	ENSP00000387211:p.Ser55Ile					IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.S55I|IL18R1_uc010ywc.2_Missense_Mutation_p.S55I	p.S55I	NM_003855	NP_003846	Q13478	IL18R_HUMAN			2	314	+			55			Ig-like C2-type 1.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.164G>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461855	0.26248	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.23	0.373	0.16178	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.728116	0.13439	N	0.387857	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B;B;B	0.33135	0.128;0.399;0.128	B;B;B	0.28849	0.047;0.095;0.047	T	0.13818	-1.0495	10	0.33940	T	0.23	.	7.0978	0.25319	0.7265:0.0:0.2735:0.0	.	55;55;55	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	I	55	ENSP00000386663:S55I;ENSP00000387211:S55I;ENSP00000233957:S55I;ENSP00000334030:S55I	ENSP00000233957:S55I	S	+	2	0	IL18R1	102350822	0.000000	0.05858	0.061000	0.19648	0.005000	0.04900	0.291000	0.18994	0.201000	0.20466	0.563000	0.77884	AGC		0.448	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		T	102984390	G	T	102984390	3	4	132	1	0	0	0	0	1	0	0	0	7647	971	34	5	170	5	IL18R1	2	102984390	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	77018472	102984390	140214983	20	9024											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	8	13	9	11	2	0	3	0	2	0	1	3	3	3	3	4	1	1	2	4	1	2	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4072-4074)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							119	113	115					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His					SCN7A_uc010fpm.2_Non-coding_Transcript	p.R1358H	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	4203	-			1358						Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167263066	C	T	167263066	3	4	132	1	0	0	0	0	1	0	0	0	13923	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	64278676	167263066	75936307	21	9025											
ITGA6	3655	broad.mit.edu	37	chr2	173338970	173338970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatttggctatgatgtggcGgtggtggacctcaacaagga	9	11	14	7	1	2	1	2	1	0	0	2	3	2	3	1	6	1	1	1	6	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:173338970G>A	ENST00000264106.6	+	7	1283	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	ITGA6_ENST00000409532.1_Silent_p.A202A|ITGA6_ENST00000343713.4_Silent_p.A316A|ITGA6_ENST00000409080.1_Silent_p.A321A|ITGA6_ENST00000264107.7_Silent_p.A321A|ITGA6_ENST00000375221.2_Silent_p.A360A			P23229	ITA6_HUMAN	integrin, alpha 6	360					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATGATGTGGCGGTGGTGGACC	0.483																																						uc002uhp.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(961-963)gcG>gcA		Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.							103	89	93					2																	173338970		2203	4300	6503	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173338970G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1080G>A	2.37:g.173338970G>A						ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	p.A321A	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		5	1166	+			360					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.963G>A																																																																																					0.483	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173338970	G	A	173338970	2	1	132	1	0	0	0	0	0	0	0	1	7880	1103	39	2		2	ITGA6	2	173338970	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	6075904	173338970	69860403	22	9026											
ALPP	250	broad.mit.edu	37	chr2	233246043	233246043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctatgtgctcaaggaCggcgcccggccggatgttac	7	7	14	13	4	1	0	1	0	0	0	1	2	1	2	3	5	2	3	3	5	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:233246043C>T	ENST00000392027.2	+	10	1544	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	425					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTCAAGGACGGCGCCCGGC	0.697																																						uc002vsq.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1273-1275)gaC>gaT		Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.							54	65	61					2																	233246043		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246043C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1275C>T	2.37:g.233246043C>T							p.D425D	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	9	1440	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	425					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.1275C>T	CCDS2490.1																																																																																				0.697	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		T	233246043	C	T	233246043	2	4	132	1	0	0	0	0	0	0	0	1	548	535	19	1		1	ALPP	2	233246043	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	59907073	233246043	9953330	23	9027											
COL6A3	1293	broad.mit.edu	37	chr2	238275874	238275874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcacttcctggaaactgtcCctcctgaagttgatggaacc	10	10	9	12	0	0	2	0	2	0	0	3	4	3	4	4	2	3	2	4	2	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:238275874C>T	ENST00000295550.4	-	11	5408	c.4956G>A	c.(4954-4956)agG>agA	p.R1652R	COL6A3_ENST00000472056.1_Silent_p.R1045R|COL6A3_ENST00000409809.1_Silent_p.R1446R|COL6A3_ENST00000353578.4_Silent_p.R1446R|COL6A3_ENST00000346358.4_Silent_p.R1452R|COL6A3_ENST00000347401.3_Silent_p.R1451R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1652	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAAACTGTCCCTCCTGAAGT	0.433																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4954-4956)agG>agA		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							75	65	69					2																	238275874		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275874C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4956G>A	2.37:g.238275874C>T						COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	p.R1652R	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5241	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1652			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.4956G>A	CCDS33412.1																																																																																				0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238275874	C	T	238275874	2	4	132	1	0	0	0	0	0	0	0	1	3701	622	22	3		3	COL6A3	2	238275874	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	5029831	238275874	4923499	24	9028											
OR6B2	389090	broad.mit.edu	37	chr2	240969715	240969715	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacgatgaggatgatGgccaggttctccaccaggac	10	7	12	12	1	1	3	0	2	1	1	3	6	2	5	4	4	0	1	4	4	0	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:240969715G>T	ENST00000402971.2	-	1	191	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGAGGATGATGGCCAGGTTCT	0.577																																						uc010zoc.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(130-132)gcC>gcA		Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.							120	126	124					2																	240969715		2123	4241	6364	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969715G>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.132C>A	2.37:g.240969715G>T						OR6B2_uc002vyr.3_Silent_p.A44A	p.A44A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	0	132	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	44					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.132C>A	CCDS46559.1																																																																																				0.577	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		T	240969715	G	T	240969715	2	4	132	1	0	0	0	0	0	0	0	1	11188	1335	47	5		5	OR6B2	2	240969715	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	2693841	240969715	2229658	25	9029											
CHL1	10752	broad.mit.edu	37	chr3	424158	424158	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtttatactaccagaGtatattgttgaatttgaagg	11	16	8	6	0	0	3	0	2	0	1	1	3	1	3	2	1	2	3	2	1	7	9	rs528632674		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:424158G>T	ENST00000256509.2	+	18	2622	c.1980G>T	c.(1978-1980)gaG>gaT	p.E660D	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site_p.E644D	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACTACCAGAGTATATTGTTG	0.338																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e18-1		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							76	91	86					3																	424158		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424158G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1979-1G>T	3.37:g.424158G>T						CHL1_uc003bou.3_Splice_Site_p.E644_splice|CHL1_uc003bow.2_Splice_Site_p.E644_splice|CHL1_uc011asi.2_Splice_Site_p.E660_splice|BC065754_uc003box.1_Intron	p.E660_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	18	2621	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	644			Fibronectin type-III 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1979_splice	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091597	0.36952	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.57273	0.41;0.41	4.75	-0.241	0.13043	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056347	0.64402	D	0.000001	T	0.41673	0.1169	L	0.55103	1.725	0.50813	D	0.999899	B;B;B	0.14805	0.006;0.006;0.011	B;B;B	0.26693	0.04;0.04;0.072	T	0.19289	-1.0310	10	0.11182	T	0.66	.	9.5206	0.39133	0.5468:0.0:0.4532:0.0	.	644;644;660	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	D	660;644	ENSP00000256509:E660D;ENSP00000380628:E644D	ENSP00000256509:E660D	E	+	3	2	CHL1	399158	0.946000	0.32159	0.754000	0.31244	0.913000	0.54294	0.048000	0.14078	-0.051000	0.13334	0.591000	0.81541	GAG		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Missense_Mutation	T	424158	G	T	424158	5	4	132	1	0	0	0	0	0	0	1	0	3349	1043	36	5	2042	5	CHL1	3	424158	Splice_Site	SNP	G	TCGA-14-0813-01A-01W-0424-08		424158	197598272	26	9030											
POLQ	10721	broad.mit.edu	37	chr3	121206922	121206922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcctggtcccagttaatTttgatttttcagccctttca	6	19	6	10	0	2	1	2	1	0	0	3	1	3	1	3	1	2	1	3	1	1	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:121206922T>G	ENST00000264233.5	-	16	4984	c.4856A>C	c.(4855-4857)aAa>aCa	p.K1619T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1619					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCAGTTAATTTTGATTTTTC	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4855-4857)aAa>aCa	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							213	211	212					3																	121206922		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206922T>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4856A>C	3.37:g.121206922T>G	ENSP00000264233:p.Lys1619Thr					POLQ_uc003eed.3_Missense_Mutation_p.K791T	p.K1619T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	15	4985	-			1619					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4856A>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	7.175	0.588359	0.13812	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.52983	0.64	6.17	-9.78	0.00496	.	0.674097	0.15655	N	0.251211	T	0.24736	0.0600	L	0.29908	0.895	0.09310	N	1	P;P	0.35433	0.501;0.493	B;B	0.35607	0.081;0.206	T	0.08597	-1.0714	10	0.40728	T	0.16	.	6.5802	0.22589	0.2952:0.4108:0.0:0.294	.	1619;791	O75417;O75417-2	DPOLQ_HUMAN;.	T	1242;1619;1755	ENSP00000264233:K1619T	ENSP00000264233:K1619T	K	-	2	0	POLQ	122689612	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.845000	0.04340	-2.346000	0.00621	-1.114000	0.02060	AAA		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		G	121206922	T	G	121206922	3	3	132	1	0	0	0	0	1	0	0	0	12208	1841	64	5	2976	5	POLQ	3	121206922	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	120782764	121206922	76815508	27	9031											
PRR23C	389152	broad.mit.edu	37	chr3	138762733	138762733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctctgggagctccgggcGcgcgtggggacctggactcg	3	6	19	13	6	1	0	0	0	1	0	3	3	2	3	2	5	1	2	2	5	0	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:138762733G>A	ENST00000413199.1	-	1	1001	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	PRR23C_ENST00000502927.2_Missense_Mutation_p.R244C|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	244	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AGCTCCGGGCGCGCGTGGGGA	0.642																																						uc011bmt.1																			0				breast(2)|lung(7)|skin(2)	11						c.(730-732)Cgc>Tgc		Homo sapiens proline rich 23C (PRR23C), mRNA.							31	34	33					3																	138762733		692	1591	2283	SO:0001583	missense	389152							g.chr3:138762733G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.730C>T	3.37:g.138762733G>A	ENSP00000396648:p.Arg244Cys						p.R244C	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			0	1002	-			244			Pro-rich.			Missense_Mutation	SNP	ENST00000413199.1	37	c.730C>T	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100952	0.20552	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	2.93	2.03	0.26663	.	0.760767	0.11399	N	0.568063	T	0.48447	0.1500	L	0.31926	0.97	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.27673	-1.0067	9	0.59425	D	0.04	.	7.8245	0.29307	0.0:0.2583:0.7417:0.0	.	244	Q6ZRP0	PR23C_HUMAN	C	244	.	ENSP00000396648:R244C	R	-	1	0	PRR23C	140245423	0.158000	0.22850	0.009000	0.14445	0.106000	0.19336	0.717000	0.25851	0.785000	0.33685	0.455000	0.32223	CGC		0.642	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		A	138762733	G	A	138762733	3	1	132	1	0	0	0	0	1	0	0	0	12596	1087	38	1	62	1	PRR23C	3	138762733	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	17555811	138762733	59259697	28	9032											
NMNAT3	349565	broad.mit.edu	37	chr3	139297857	139297857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcttcccataggtgtcGttgacaggagagatgatacc	9	13	10	9	1	2	3	0	2	2	1	4	5	3	4	2	2	1	1	2	2	2	5	rs79043406	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:139297857G>A	ENST00000296202.7	-	4	531	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NMNAT3_ENST00000511444.1_Silent_p.N13N|NMNAT3_ENST00000339837.5_Silent_p.N13N|NMNAT3_ENST00000512391.1_Silent_p.N50N|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_De_novo_Start_InFrame|NMNAT3_ENST00000406164.1_Silent_p.N13N|NMNAT3_ENST00000413939.2_Intron			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	50					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATAGGTGTCGTTGACAGGAG	0.572													G|||	36	0.0071885	0	0.0014	5008	,	,		21318	0		0.007	False		,,,				2504	0.0286					uc003etj.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						c.(148-150)aaC>aaT		Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.		G	,	11,4395	19.1+/-41.9	0,11,2192	125	116	119		,39	-1.4	1	3	dbSNP_132	119	69,8531	41.7+/-99.0	1,67,4232	no	intron,coding-synonymous	NMNAT3	NM_001200047.1,NM_178177.3	,	1,78,6424	AA,AG,GG		0.8023,0.2497,0.6151	,	,13/216	139297857	80,12926	2203	4300	6503	SO:0001819	synonymous_variant	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139297857G>A	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.150C>T	3.37:g.139297857G>A						NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.N13N|NMNAT3_uc003etl.3_Non-coding_Transcript	p.N50N	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN			1	190	-			50					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Silent	SNP	ENST00000296202.7	37	c.150C>T																																																																																					0.572	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		A	139297857	G	A	139297857	2	1	132	1	0	0	0	0	0	0	0	1	10500	1136	40	1		1	NMNAT3	3	139297857	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	535124	139297857	58724573	29	9033											
MCF2L2	23101	broad.mit.edu	37	chr3	182897228	182897228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctggaaaccagccgtcgcCcccgcaggagccagccggcc	7	2	13	19	4	0	0	0	0	0	0	1	2	0	2	8	3	4	1	8	3	1	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:182897228C>T	ENST00000328913.3	-	30	3582	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G	MCF2L2_ENST00000473233.1_3'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1095							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGCCGTCGCCCCCGCAGGAG	0.741																																						uc003fli.1																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3283-3285)ggG>ggA		Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.							17	19	18					3																	182897228		2066	4179	6245	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897228C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3285G>A	3.37:g.182897228C>T							p.G1095G	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3375	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1095					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.3285G>A	CCDS3243.1																																																																																				0.741	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		T	182897228	C	T	182897228	2	4	132	1	0	0	0	0	0	0	0	1	9380	610	22	3		3	MCF2L2	3	182897228	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	43599371	182897228	15125202	30	9034											
DRD5	1816	broad.mit.edu	37	chr4	9784506	9784506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcccgacaccagcctgCgcgcttccatcaagaaggag	9	4	12	16	5	1	1	1	0	0	1	2	3	2	2	4	1	2	1	4	1	2	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:9784506C>T	ENST00000304374.2	+	1	1249	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	285					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CACCAGCCTGCGCGCTTCCAT	0.627																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(853-855)Cgc>Tgc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						33	31	32					4																	9784506		2186	4270	6456	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784506C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.853C>T	4.37:g.9784506C>T	ENSP00000306129:p.Arg285Cys						p.R285C	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1249	+			285					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.853C>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.044137	0.55110	.	.	ENSG00000169676	ENST00000304374	T	0.73047	-0.71	4.6	0.162	0.14981	GPCR, rhodopsin-like superfamily (1);	0.120773	0.53938	D	0.000049	T	0.76198	0.3954	M	0.62723	1.935	0.41867	D	0.990254	D	0.76494	0.999	D	0.63597	0.916	T	0.74985	-0.3477	10	0.72032	D	0.01	.	8.7607	0.34672	0.6385:0.2489:0.1126:0.0	.	285	P21918	DRD5_HUMAN	C	285	ENSP00000306129:R285C	ENSP00000306129:R285C	R	+	1	0	DRD5	9393604	1.000000	0.71417	0.847000	0.33407	0.879000	0.50718	2.878000	0.48515	0.134000	0.18681	0.305000	0.20034	CGC		0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9784506	C	T	9784506	3	4	132	1	0	0	0	0	1	0	0	0	4760	768	27	1	855	1	DRD5	4	9784506	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		9784506	181369770	31	9035											
PCDH7	5099	broad.mit.edu	37	chr4	30724196	30724196	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccagctgcgcttcacGgtcatggcccgcgaccgcgg	6	6	14	15	6	2	1	2	1	0	0	2	2	2	1	3	3	3	2	3	3	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:30724196G>T	ENST00000361762.2	+	1	2160	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	PCDH7_ENST00000543491.1_Silent_p.T384T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	384	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCGCTTCACGGTCATGGCCC	0.652																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1150-1152)acG>acT		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							27	33	31					4																	30724196		2198	4290	6488	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724196G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1152G>T	4.37:g.30724196G>T						PCDH7_uc011bxx.2_Silent_p.T384T|PCDH7_uc021xnd.1_Silent_p.T384T|PCDH7_uc021xnc.1_Silent_p.T384T	p.T384T	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	2160	+			384			Cadherin 3.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.1152G>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	4.838	0.155831	0.09236	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39820	-0.9595	4	.	.	.	.	2.1849	0.03884	0.2707:0.2422:0.3236:0.1635	.	.	.	.	C	74	.	.	G	+	1	0	PCDH7	30333294	0.000000	0.05858	0.479000	0.27329	0.812000	0.45895	-7.030000	0.00046	-1.961000	0.01016	0.655000	0.94253	GGT		0.652	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30724196	G	T	30724196	2	4	132	1	0	0	0	0	0	0	0	1	11516	1103	39	5		5	PCDH7	4	30724196	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	20939690	30724196	160430080	32	9036											
OCIAD1	54940	broad.mit.edu	37	chr4	48852092	48852092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaagcacgacgatcttcaCcacctgggtaggccagattc	11	7	10	13	2	2	1	1	0	1	1	3	4	2	1	3	2	1	2	3	2	2	3	rs150423557		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:48852092C>T	ENST00000381473.3	+	6	788	c.370C>T	c.(370-372)Cca>Tca	p.P124S	OCIAD1_ENST00000396448.2_Missense_Mutation_p.P124S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P124S|OCIAD1_ENST00000506801.1_Missense_Mutation_p.P70S|OCIAD1_ENST00000425583.2_Missense_Mutation_p.P124S|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Missense_Mutation_p.P97S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P124S|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P124S|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P124S	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	124						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ACGATCTTCACCACCTGGGTA	0.373																																						uc010igk.3																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(385-387)Cca>Tca		Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.		C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	75	81	79		370,370,370,370,385,370	3.4	0	4	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	OCIAD1	NM_001079839.2,NM_001079840.2,NM_001079841.2,NM_001079842.2,NM_001168254.1,NM_017830.3	74,74,74,74,74,74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	124/246,124/195,124/188,124/195,129/251,124/246	48852092	1,13005	2203	4300	6503	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48852092C>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.370C>T	4.37:g.48852092C>T	ENSP00000370882:p.Pro124Ser					OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P124S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P124S	p.P129S	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN			5	601	+			124					C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.385C>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	C	3.761	-0.049535	0.07407	2.27E-4	0.0	ENSG00000109180	ENST00000509122;ENST00000505922;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T	0.42513	1.02;0.97;1.0;0.99;1.02;0.98;0.98;1.02;1.02	5.52	3.44	0.39384	.	0.481214	0.22971	N	0.053438	T	0.22003	0.0530	N	0.11698	0.16	0.09310	N	1	B;B;B;B	0.18310	0.016;0.027;0.013;0.02	B;B;B;B	0.17722	0.007;0.019;0.007;0.006	T	0.15321	-1.0441	9	.	.	.	-3.2856	8.7672	0.34711	0.1545:0.7547:0.0:0.0908	.	97;124;124;124	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	S	97;97;124;124;124;124;124;124;70;70;70;70;124;124;124	ENSP00000264312:P124S;ENSP00000379725:P124S;ENSP00000426386:P124S;ENSP00000427389:P124S;ENSP00000370882:P124S;ENSP00000399656:P124S;ENSP00000416943:P124S;ENSP00000423002:P124S;ENSP00000423909:P124S	.	P	+	1	0	OCIAD1	48546849	0.027000	0.19231	0.027000	0.17364	0.237000	0.25408	1.094000	0.30951	1.308000	0.44962	0.591000	0.81541	CCA		0.373	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		T	48852092	C	T	48852092	3	4	132	1	0	0	0	0	1	0	0	0	10817	507	18	3	407	3	OCIAD1	4	48852092	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	18127896	48852092	142302184	33	9037											
MOBKL1A	92597	broad.mit.edu	37	chr4	71847741	71847741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacttgcaccactccaagaActgattgaaaaactcacctc	15	8	5	13	0	1	3	1	2	0	1	3	4	2	3	3	0	4	1	3	0	5	2	rs553172790		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:71847741A>G	ENST00000309395.2	+	6	819	c.618A>G	c.(616-618)gaA>gaG	p.E206E	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Silent_p.E211E	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	206					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										CACTCCAAGAACTGATTGAAA	0.353													A|||	1	0.000199681	0	0	5008	,	,		17714	0		0.001	False		,,,				2504	0					uc011cba.2																			0											c.(631-633)gaA>gaG		Homo sapiens MOB kinase activator 1B (MOB1B), transcript variant 1, mRNA.							88	84	85					4																	71847741		2203	4300	6503	SO:0001819	synonymous_variant	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71847741A>G	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"MOB kinase activators"	29801	protein-coding gene	gene with protein product	"Mob4A protein"	609282	"MOB1, Mps One Binder kinase activator-like 1A (yeast)", "MOB1 Mps One Binder homolog B (yeast)"	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.618A>G	4.37:g.71847741A>G						MOB1B_uc003hfw.3_Silent_p.E206E	p.E211E	NM_001244766	NP_001231695	Q7L9L4	MOL1A_HUMAN			6	927	+			206					B2R8U6|B4DRY3|Q8IY23	Silent	SNP	ENST00000309395.2	37	c.633A>G	CCDS34002.1																																																																																				0.353	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		G	71847741	A	G	71847741	2	3	132	1	0	0	0	0	0	0	0	1	9682	40	2	4		4	MOBKL1A	4	71847741	Silent	SNP	A	TCGA-14-0813-01A-01W-0424-08	22995649	71847741	119306535	34	9038											
SLC39A8	64116	broad.mit.edu	37	chr4	103184237	103184237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctgcatacaaggtaatGagtagaatggctgtgaatcc	12	11	10	8	0	1	3	0	2	1	1	3	3	2	3	2	2	2	4	2	2	6	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:103184237G>A	ENST00000394833.2	-	8	1823	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SLC39A8_ENST00000424970.2_Intron|SLC39A8_ENST00000356736.4_Silent_p.L449L	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	449					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAAGGTAATGAGTAGAATGG	0.348																																						uc003hwb.1																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1345-1347)ctC>ctT		Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.							131	123	126					4																	103184237		2203	4300	6503	SO:0001819	synonymous_variant	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103184237G>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.1347C>T	4.37:g.103184237G>A						SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	p.L449L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	7	1876	-		Hepatocellular(203;0.217)	449					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	c.1347C>T	CCDS3656.1																																																																																				0.348	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		A	103184237	G	A	103184237	2	1	132	1	0	0	0	0	0	0	0	1	14624	1277	45	3		3	SLC39A8	4	103184237	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	31336496	103184237	87970039	35	9039											
TET2	54790	broad.mit.edu	37	chr4	106158045	106158045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcacaggccaattaaGgtggaacctggatgcaagcc	13	6	12	10	0	0	1	0	0	0	1	0	3	0	3	3	4	4	2	3	4	4	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:106158045G>C	ENST00000540549.1	+	3	3806	c.2946G>C	c.(2944-2946)aaG>aaC	p.K982N	TET2_ENST00000305737.2_Missense_Mutation_p.K982N|TET2_ENST00000413648.2_Missense_Mutation_p.K982N|TET2_ENST00000545826.1_Missense_Mutation_p.K982N|TET2_ENST00000394764.1_Missense_Mutation_p.K982N|TET2_ENST00000380013.4_Missense_Mutation_p.K982N|TET2_ENST00000513237.1_Missense_Mutation_p.K1003N			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	982					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCCAATTAAGGTGGAACCTG	0.473			"Mis N, F"		MDS																																	uc011cez.2				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0		p.W1003*(2)|p.W1003fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3007-3009)aaG>aaC		Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.							118	99	105					4																	106158045		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158045G>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2946G>C	4.37:g.106158045G>C	ENSP00000442788:p.Lys982Asn					TET2_uc003hxk.3_Missense_Mutation_p.K982N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K982N|TET2_uc010ilp.2_Missense_Mutation_p.K982N|TET2_uc021xql.1_Missense_Mutation_p.K982N	p.K1003N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	2	3414	+		Myeloproliferative disorder(5;0.0393)	982					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.3009G>C	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.25579	1.79;1.79;2.85;1.79;1.79;1.79;1.79	5.79	2.04	0.26737	.	0.000000	0.39274	U	0.001405	T	0.34978	0.0916	L	0.34521	1.04	0.31824	N	0.625585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.989;0.998	T	0.36962	-0.9726	10	0.66056	D	0.02	.	8.7952	0.34874	0.574:0.0:0.426:0.0	.	1003;982;982	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	N	982;982;982;1003;982;982;982	ENSP00000306705:K982N;ENSP00000442788:K982N;ENSP00000442867:K982N;ENSP00000425443:K1003N;ENSP00000369351:K982N;ENSP00000378245:K982N;ENSP00000391448:K982N	ENSP00000265149:K982N	K	+	3	2	TET2	106377494	0.999000	0.42202	0.339000	0.25562	0.372000	0.29890	2.641000	0.46587	0.058000	0.16222	0.655000	0.94253	AAG		0.473	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		C	106158045	G	C	106158045	3	2	132	1	0	0	0	0	1	0	0	0	15767	991	35	5	2948	5	TET2	4	106158045	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	2973808	106158045	84996231	36	9040											
EGF	1950	broad.mit.edu	37	chr4	110880565	110880565	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtgtgcagagggatacgcCctaagtcgagaccggaagta	12	7	14	8	3	0	2	0	0	0	2	1	5	0	4	2	2	2	2	2	2	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:110880565C>A	ENST00000265171.5	+	6	1483	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	EGF_ENST00000503392.1_Silent_p.A346A|EGF_ENST00000509793.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGGGATACGCCCTAAGTCGAG	0.502																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1036-1038)gcC>gcA		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						146	115	125					4																	110880565		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110880565C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1038C>A	4.37:g.110880565C>A						EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.A346A	p.A346A	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	5	1490	+		Hepatocellular(203;0.0893)	346			EGF-like 1.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1038C>A	CCDS3689.1																																																																																				0.502	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			A	110880565	C	A	110880565	2	1	132	1	0	0	0	0	0	0	0	1	4962	610	22	5		5	EGF	4	110880565	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	4722520	110880565	80273711	37	9041											
TBC1D9	23158	broad.mit.edu	37	chr4	141578365	141578365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgctgtctttattggtCacactgtctaaatacctgga	9	15	9	8	0	3	0	1	0	2	0	3	1	3	1	1	2	2	1	1	2	4	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:141578365C>T	ENST00000442267.2	-	13	2297	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	741							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTTTATTGGTCACACTGTCTA	0.438																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(2221-2223)gtG>gtA		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							156	155	155					4																	141578365		1990	4175	6165	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578365C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2223G>A	4.37:g.141578365C>T							p.V741V	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			12	2495	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	741					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2223G>A	CCDS47136.1																																																																																				0.438	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		T	141578365	C	T	141578365	2	4	132	1	0	0	0	0	0	0	0	1	15624	813	29	3		3	TBC1D9	4	141578365	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	30697800	141578365	49575911	38	9042											
PCDHB5	26167	broad.mit.edu	37	chr5	140517019	140517019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggacggcttctcccagcCctacctgccgctgccggagg	4	7	14	16	3	1	0	0	0	1	0	2	2	1	2	5	5	4	2	5	5	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:140517019C>T	ENST00000231134.5	+	1	2220	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.701																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2002-2004)cCc>cTc		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							45	51	49					5																	140517019		2160	4239	6399	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517019C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2003C>T	5.37:g.140517019C>T	ENSP00000231134:p.Pro668Leu						p.P668L	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2220	+			668			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.2003C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895315	0.33442	.	.	ENSG00000113209	ENST00000231134	T	0.52057	0.68	4.71	4.71	0.59529	Cadherin (2);	.	.	.	.	T	0.56790	0.2009	L	0.49513	1.565	0.34644	D	0.720976	D	0.62365	0.991	D	0.63793	0.918	T	0.66097	-0.6008	9	0.49607	T	0.09	.	8.6053	0.33769	0.0:0.7471:0.1671:0.0858	.	668	Q9Y5E4	PCDB5_HUMAN	L	668	ENSP00000231134:P668L	ENSP00000231134:P668L	P	+	2	0	PCDHB5	140497203	0.000000	0.05858	1.000000	0.80357	0.366000	0.29705	0.157000	0.16402	2.337000	0.79520	0.430000	0.28490	CCC		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140517019	C	T	140517019	3	4	132	1	0	0	0	0	1	0	0	0	11545	623	22	3	2005	3	PCDHB5	5	140517019	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		140517019	40398241	39	9043											
HK3	3101	broad.mit.edu	37	chr5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgagtgatggcttccCgcaacagactcacgacatct	9	9	10	13	3	3	2	1	1	2	1	4	4	4	2	1	1	2	2	1	1	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:176311062C>T	ENST00000292432.5	-	14	2022	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	644	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGCTTCCCGCAACAGACT	0.587																																						uc003mfa.3																			0		p.R644W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1930-1932)cGg>cAg		Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.							148	145	146					5																	176311062		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176311062C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1931G>A	5.37:g.176311062C>T	ENSP00000292432:p.Arg644Gln					HK3_uc003mez.3_Missense_Mutation_p.R200Q	p.R644Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2023	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	644			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1931G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246139	0.59103	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.98164	-4.76;-4.76	5.8	5.8	0.92144	Hexokinase, N-terminal (1);	0.000000	0.47852	D	0.000213	D	0.97876	0.9302	L	0.35288	1.05	0.38247	D	0.941485	D	0.89917	1.0	D	0.76575	0.988	D	0.98931	1.0787	10	0.87932	D	0	.	12.8383	0.57786	0.0:0.8842:0.0:0.1158	.	644	P52790	HXK3_HUMAN	Q	644;25	ENSP00000292432:R644Q;ENSP00000424632:R25Q	ENSP00000292432:R644Q	R	-	2	0	HK3	176243668	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	2.701000	0.47094	2.747000	0.94245	0.462000	0.41574	CGG		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176311062	C	T	176311062	3	4	132	1	0	0	0	0	1	0	0	0	7192	652	23	2	864	2	HK3	5	176311062	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	35794043	176311062	4604198	40	9044											
DSP	1832	broad.mit.edu	37	chr6	7585169	7585169	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcactcaatttgcTgacatgatctccttgaaaaa	12	12	5	12	0	4	3	3	3	1	0	5	3	4	3	2	0	2	1	2	0	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:7585169T>A	ENST00000379802.3	+	24	8015	c.7674T>A	c.(7672-7674)gcT>gcA	p.A2558A	DSP_ENST00000418664.2_Silent_p.A1959A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2558	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAATTTGCTGACATGATCT	0.478																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7672-7674)gcT>gcA		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							101	96	98					6																	7585169		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585169T>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7674T>A	6.37:g.7585169T>A						DSP_uc003mxq.1_Silent_p.A1959A|DSP_uc021yle.1_Silent_p.A2115A	p.A2558A	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	7953	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2558			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.7674T>A	CCDS4501.1																																																																																				0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7585169	T	A	7585169	2	1	132	1	0	0	0	0	0	0	0	1	4781	1567	55	5		5	DSP	6	7585169	Silent	SNP	T	TCGA-14-0813-01A-01W-0424-08		7585169	163529898	41	9045											
TULP1	7287	broad.mit.edu	37	chr6	35480607	35480607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagaggcccacaccTctcggagggtttcatcccgc	7	8	10	16	2	3	1	2	0	1	1	5	2	4	2	4	3	0	1	4	3	0	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:35480607T>C	ENST00000229771.6	-	1	108	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TULP1_ENST00000322263.4_Missense_Mutation_p.E10G	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	10					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCCCACACCTCTCGGAGGGT	0.637																																					GBM(55;1027 1091 11115 23439)	uc003okv.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(28-30)gAg>gGg		Homo sapiens tubby like protein 1 (TULP1), mRNA.							59	55	57					6																	35480607		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35480607T>C	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.29A>G	6.37:g.35480607T>C	ENSP00000229771:p.Glu10Gly					TULP1_uc003okw.4_Missense_Mutation_p.E10G|TULP1_uc021yyx.1_Missense_Mutation_p.E10G|TULP1_uc021yyy.1_Missense_Mutation_p.E10G	p.E10G	NM_003322	NP_003313	O00294	TULP1_HUMAN			0	41	-			10					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.29A>G	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767555	0.69878	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	D;D;T	0.85861	-1.9;-2.04;0.27	4.1	4.1	0.47936	.	0.245363	0.35436	N	0.003219	D	0.86703	0.5996	L	0.53249	1.67	0.36829	D	0.886807	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	D	0.88629	0.3168	10	0.87932	D	0	1.8024	11.0161	0.47689	0.0:0.0:0.0:1.0	.	10;10	O00294-2;O00294	.;TULP1_HUMAN	G	10	ENSP00000229771:E10G;ENSP00000319414:E10G;ENSP00000406765:E10G	ENSP00000229771:E10G	E	-	2	0	TULP1	35588585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.796000	0.55507	1.718000	0.51419	0.456000	0.33151	GAG		0.637	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			C	35480607	T	C	35480607	3	2	132	1	0	0	0	0	1	0	0	0	16770	1551	54	4	1659	4	TULP1	6	35480607	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	27895438	35480607	135634460	42	9046											
TCTE1	202500	broad.mit.edu	37	chr6	44255398	44255398	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcatccgacggatattggcCctgggatgtgggttcctgga	6	10	15	10	3	0	0	0	0	0	0	2	4	2	3	3	5	0	2	3	5	1	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:44255398C>T	ENST00000371505.4	-	2	287	c.165G>A	c.(163-165)agG>agA	p.R55R	TCTE1_ENST00000371504.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	55										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATATTGGCCCTGGGATGTG	0.547																																						uc003oxi.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(163-165)agG>agA		Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.							169	136	147					6																	44255398		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44255398C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.165G>A	6.37:g.44255398C>T						TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	p.R55R	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	321	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		55					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.165G>A	CCDS4910.1																																																																																				0.547	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		T	44255398	C	T	44255398	2	4	132	1	0	0	0	0	0	0	0	1	15714	622	22	3		3	TCTE1	6	44255398	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	8774791	44255398	126859669	43	9047											
C6orf138	442213	broad.mit.edu	37	chr6	47846160	47846160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaggggggaaaaacgttAggaacacaggtaaaataaca	19	5	13	4	1	0	0	0	0	0	0	0	3	0	3	0	6	3	2	0	6	8	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:47846160A>G	ENST00000339488.4	-	3	2453	c.2420T>C	c.(2419-2421)cTa>cCa	p.L807P		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	807						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GAAAAACGTTAGGAACACAGG	0.443																																						uc011dwm.2																			0											c.(2419-2421)cTa>cCa		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							95	94	94					6																	47846160		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846160A>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2420T>C	6.37:g.47846160A>G	ENSP00000341914:p.Leu807Pro					PTCHD4_uc011dwn.2_Missense_Mutation_p.L554P	p.L807P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			2	2454	-			807					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2420T>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232221	0.58777	.	.	ENSG00000244694	ENST00000339488	D	0.91894	-2.93	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.92625	0.7657	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.94177	0.7428	10	0.87932	D	0	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	807	Q6ZW05	CF138_HUMAN	P	807	ENSP00000341914:L807P	ENSP00000341914:L807P	L	-	2	0	C6orf138	47954119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.322000	0.78497	0.528000	0.53228	CTA		0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		G	47846160	A	G	47846160	3	3	132	1	0	0	0	0	1	0	0	0	2332	420	15	4	124	4	C6orf138	6	47846160	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	3590762	47846160	123268907	44	9048											
C6orf142	90523	broad.mit.edu	37	chr6	53986287	53986287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaacctctgatcttcacaTttgtccccactgtcagaaga	11	11	5	14	0	4	3	2	1	2	2	5	3	5	3	4	0	1	0	4	0	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:53986287T>A	ENST00000274897.5	+	2	219	c.106T>A	c.(106-108)Ttt>Att	p.F36I	MLIP_ENST00000358276.5_Missense_Mutation_p.F30I|MLIP_ENST00000502396.1_Missense_Mutation_p.F47I|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.F36I|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	36	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GATCTTCACATTTGTCCCCAC	0.413																																						uc011dxa.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(139-141)Ttt>Att		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							140	136	137					6																	53986287		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53986287T>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.106T>A	6.37:g.53986287T>A	ENSP00000274897:p.Phe36Ile					MLIP_uc003pcf.2_Missense_Mutation_p.F36I|MLIP_uc003pcg.4_Missense_Mutation_p.F36I|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	p.F47I	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			1	172	+			36					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.139T>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456413	0.84317	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T	0.55234	1.32;0.74;0.78;0.53;0.96	5.13	5.13	0.70059	.	0.229242	0.31188	N	0.008083	T	0.58581	0.2132	M	0.64997	1.995	0.29735	N	0.837562	D;D;D	0.89917	0.999;0.982;1.0	D;P;D	0.87578	0.996;0.84;0.998	T	0.59674	-0.7410	10	0.87932	D	0	-10.2896	11.5986	0.50988	0.0:0.0:0.0:1.0	.	47;36;36	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	I	36;36;47;30;37	ENSP00000274897:F36I;ENSP00000425142:F36I;ENSP00000426290:F47I;ENSP00000351019:F30I;ENSP00000421444:F37I	ENSP00000274897:F36I	F	+	1	0	MLIP	54094246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.309000	0.59135	2.062000	0.61559	0.482000	0.46254	TTT		0.413	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		A	53986287	T	A	53986287	3	1	132	1	0	0	0	0	1	0	0	0	2333	1493	52	5	112	5	C6orf142	6	53986287	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	6140127	53986287	117128780	45	9049											
LMBRD1	55788	broad.mit.edu	37	chr6	70411373	70411373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatattcagtggattacTcaggttagctccaaaaatta	15	12	7	7	0	2	0	2	0	0	0	3	1	3	1	1	2	3	3	1	2	7	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:70411373T>A	ENST00000370577.3	-	11	1274	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S276C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	349					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S349C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTGGATTACTCAGGTTAGCT	0.294																																						uc003pfa.3																			1	Substitution - Missense(1)	p.S349C(2)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(1045-1047)Agt>Tgt		Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.							57	58	58					6																	70411373		2198	4287	6485	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70411373T>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1045A>T	6.37:g.70411373T>A	ENSP00000359609:p.Ser349Cys					LMBRD1_uc003pez.3_Missense_Mutation_p.S276C|LMBRD1_uc010kal.3_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.3_Non-coding_Transcript	p.S349C	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			10	1321	-			349					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.1045A>T	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655261	0.88056	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.19669	2.13;2.13	5.68	5.68	0.88126	.	0.130771	0.64402	D	0.000001	T	0.06325	0.0163	N	0.08118	0	0.42293	D	0.99214	P	0.38642	0.641	B	0.36959	0.237	T	0.25257	-1.0137	10	0.38643	T	0.18	-9.1267	16.2107	0.82151	0.0:0.0:0.0:1.0	.	349	Q9NUN5	LMBD1_HUMAN	C	349;276	ENSP00000359609:S349C;ENSP00000359602:S276C	ENSP00000359602:S276C	S	-	1	0	LMBRD1	70468094	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.221000	0.78016	2.293000	0.77203	0.477000	0.44152	AGT		0.294	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		A	70411373	T	A	70411373	3	1	132	1	0	0	0	0	1	0	0	0	8842	1551	54	5	601	5	LMBRD1	6	70411373	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	16425086	70411373	100703694	46	9050											
SIM1	6492	broad.mit.edu	37	chr6	100838922	100838922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcactggccgacccaGggtctggagaactgaccaca	10	7	11	13	1	2	3	1	2	1	1	2	5	2	3	3	3	1	0	3	3	1	1	rs368535355		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:100838922G>C	ENST00000369208.3	-	12	2398	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R	SIM1_ENST00000262901.4_Missense_Mutation_p.P539R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	539	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1615-1617)cCt>cGt		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							70	72	71					6																	100838922		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838922G>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1616C>G	6.37:g.100838922G>C	ENSP00000358210:p.Pro539Arg					SIM1_uc021zdg.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.3_Missense_Mutation_p.P539R	p.P539R	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	2083	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	539			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1616C>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673036	0.47781	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.29917	1.55;1.55	5.9	5.9	0.94986	Single-minded, C-terminal (2);	0.097562	0.64402	D	0.000001	T	0.19087	0.0458	N	0.14661	0.345	0.58432	D	0.999991	P	0.42584	0.784	P	0.45167	0.472	T	0.05178	-1.0901	10	0.66056	D	0.02	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	539	P81133	SIM1_HUMAN	R	539	ENSP00000358210:P539R;ENSP00000262901:P539R	ENSP00000262901:P539R	P	-	2	0	SIM1	100945643	1.000000	0.71417	0.988000	0.46212	0.860000	0.49131	6.653000	0.74382	2.788000	0.95919	0.650000	0.86243	CCT		0.433	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		C	100838922	G	C	100838922	3	2	132	1	0	0	0	0	1	0	0	0	14323	1000	35	5	688	5	SIM1	6	100838922	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	30427549	100838922	70276145	47	9051											
AIM1	202	broad.mit.edu	37	chr6	106968654	106968654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccaaactgagacccaaaCgtgcatctgctgaacagagc	15	6	8	12	1	1	3	0	2	1	2	2	4	2	3	2	0	6	2	2	0	4	0	rs574757027		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:106968654C>T	ENST00000369066.3	+	2	2834	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAGACCCAAACGTGCATCTGC	0.468													C|||	1	0.000199681	0	0	5008	,	,		19692	0.001		0	False		,,,				2504	0					uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2347-2349)Cgt>Tgt		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							85	81	82					6																	106968654		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968654C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2347C>T	6.37:g.106968654C>T	ENSP00000358062:p.Arg783Cys						p.R783C	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	3259	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	783					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2347C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467214	0.63625	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.75938	-0.98	5.97	5.97	0.96955	.	0.977820	0.08417	N	0.948882	D	0.82742	0.5103	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	P	0.53954	0.738	T	0.81417	-0.0942	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	783	Q9Y4K1	AIM1_HUMAN	C	1191;783	ENSP00000358062:R783C	ENSP00000285105:R1191C	R	+	1	0	AIM1	107075347	1.000000	0.71417	0.974000	0.42286	0.143000	0.21401	4.592000	0.61027	2.836000	0.97738	0.655000	0.94253	CGT		0.468	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968654	C	T	106968654	3	4	132	1	0	0	0	0	1	0	0	0	430	536	19	1	2353	1	AIM1	6	106968654	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	6129732	106968654	64146413	48	9052											
AKD1	221264	broad.mit.edu	37	chr6	109993127	109993127	+	Frame_Shift_Del	DEL	T	T	-																															ttaaaataaacataccaaagTgacagacttctggggagttg																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:109993127delT	ENST00000424296.2	-	5	402	c.326delA	c.(325-327)cacfs	p.H109fs	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Frame_Shift_Del_p.H109fs|AK9_ENST00000368948.2_Frame_Shift_Del_p.H109fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	109	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CATACCAAAGTGACAGACTTC	0.383																																						uc003ptn.2																			0				endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						c.(325-327)cacfs		Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.							84	80	81					6																	109993127		2203	4300	6503	SO:0001589	frameshift_variant	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109993127delT	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.326delA	6.37:g.109993127delT	ENSP00000410186:p.His109fs					AKD1_uc003ptr.4_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.2_Non-coding_Transcript	p.H109fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			4	403	-			109					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.326delA	CCDS55048.1																																																																																				0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		-	109993127	T	-	109993127	7	5	132	1	0	1	0	1	0	0	0	0	460	1696	59	0	5569	0	AKD1	6	109993127	Frame_Shift_Del	DEL	T	TCGA-14-0813-01A-01W-0424-08	3024473	109993127	61121940	49	9053											
RFX6	222546	broad.mit.edu	37	chr6	117203548	117203548	+	Frame_Shift_Del	DEL	C	C	-																															agacaattcgccagaagtttCccctcctaacaacaaggcgg																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:117203548delC	ENST00000332958.2	+	4	539	c.523delC	c.(523-525)cccfs	p.P175fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	175					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAGAAGTTTCCCCTCCTAAC	0.413																																						uc003pxm.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(523-525)cccfs		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							105	92	96					6																	117203548		2203	4300	6503	SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203548delC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.523delC	6.37:g.117203548delC	ENSP00000332208:p.Pro175fs						p.P175fs	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			3	586	+			175					Q5T6B3	Frame_Shift_Del	DEL	ENST00000332958.2	37	c.523delC	CCDS5113.1																																																																																				0.413	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		-	117203548	C	-	117203548	7	5	132	1	0	1	0	1	0	0	0	0	13267	855	30	0	537	0	RFX6	6	117203548	Frame_Shift_Del	DEL	C	TCGA-14-0813-01A-01W-0424-08	7210421	117203548	53911519	50	9054											
HOXA9	3205	broad.mit.edu	37	chr7	27204781	27204781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtccggcgccgccgccGccacgggcgcctgggggtgc	1	4	18	18	8	0	0	0	0	0	0	1	0	1	0	7	4	2	0	7	4	0	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:27204781G>A	ENST00000343483.6	-	1	368	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.A99V|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	99					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCCGCCGCCGCCACGGGCGC	0.721			T	"NUP98, MSI2"	AML*																																	uc003syt.3				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"NUP98, MSI2"		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(295-297)gCg>gTg		Homo sapiens homeobox A9 (HOXA9), mRNA.							7	11	9					7																	27204781		2029	4017	6046	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204781G>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.296C>T	7.37:g.27204781G>A	ENSP00000343619:p.Ala99Val					HOXA9_uc022aar.1_Intron	p.A99V	NM_152739	NP_689952	P31269	HXA9_HUMAN			0	369	-			99					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.296C>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610432	0.46527	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.93604	-3.25	4.51	3.62	0.41486	Hox9, N-terminal activation domain (1);	0.000000	0.47455	D	0.000229	D	0.88706	0.6509	L	0.50333	1.59	0.35079	D	0.763191	B	0.34161	0.439	B	0.32677	0.15	D	0.88906	0.3356	10	0.38643	T	0.18	.	7.7963	0.29150	0.111:0.0:0.889:0.0	.	99	P31269	HXA9_HUMAN	V	99;90;99	ENSP00000343619:A99V	ENSP00000242050:A90V	A	-	2	0	HOXA9	27171306	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.839000	0.55835	2.535000	0.85469	0.561000	0.74099	GCG		0.721	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			A	27204781	G	A	27204781	3	1	132	1	0	0	0	0	1	0	0	0	7298	1087	38	1	530	1	HOXA9	7	27204781	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		27204781	131933882	51	9055											
OGDH	4967	broad.mit.edu	37	chr7	44714133	44714133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagaatggcgtggactaCgtgatcatgggcatgccaca	11	8	14	8	2	1	2	1	2	0	1	1	4	1	3	1	3	2	1	1	3	2	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:44714133C>T	ENST00000222673.5	+	7	954	c.912C>T	c.(910-912)taC>taT	p.Y304Y	OGDH_ENST00000447398.1_Silent_p.Y315Y|OGDH_ENST00000449767.1_Silent_p.Y300Y|OGDH_ENST00000443864.2_Silent_p.Y304Y|OGDH_ENST00000543843.1_Silent_p.Y255Y|OGDH_ENST00000439616.2_Silent_p.Y154Y|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000444676.1_Silent_p.Y319Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	304					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCGTGGACTACGTGATCATGG	0.562																																						uc003tln.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(910-912)taC>taT		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						129	104	112					7																	44714133		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44714133C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.912C>T	7.37:g.44714133C>T						OGDH_uc003tlm.3_Silent_p.Y304Y|OGDH_uc011kbx.2_Silent_p.Y300Y|OGDH_uc011kby.2_Silent_p.Y154Y|OGDH_uc003tlp.3_Silent_p.Y315Y|OGDH_uc011kbz.2_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	p.Y304Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN			6	1071	+			304					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.912C>T	CCDS34627.1																																																																																				0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44714133	C	T	44714133	2	4	132	1	0	0	0	0	0	0	0	1	10839	547	19	1		1	OGDH	7	44714133	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	17509352	44714133	114424530	52	9056											
EGFR	1956	broad.mit.edu	37	chr7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtcaagacctgccCggcaggagtcatgggagaaa	11	5	13	12	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:55233037C>T	ENST00000275493.2	+	15	1964	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_ENST00000455089.1_Missense_Mutation_p.P551L|EGFR_ENST00000342916.3_Missense_Mutation_p.P596L|EGFR_ENST00000442591.1_Missense_Mutation_p.P596L|EGFR_ENST00000344576.2_Missense_Mutation_p.P596L|EGFR_ENST00000454757.2_Missense_Mutation_p.P543L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P596L(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.P596L(7)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1786-1788)cCg>cTg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93	81	85					7																	55233037		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233037C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1787C>T	7.37:g.55233037C>T	ENSP00000275493:p.Pro596Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1787C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224989	0.95173	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.996;0.99;0.994	D	0.86044	0.1521	10	0.87932	D	0	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	551;596;466;596;596;596;543;390	ENSP00000415559:P551L;ENSP00000342376:P596L;ENSP00000345973:P596L;ENSP00000275493:P596L;ENSP00000410031:P596L;ENSP00000395243:P543L	ENSP00000275493:P596L	P	+	2	0	EGFR	55200531	1.000000	0.71417	0.967000	0.41034	0.752000	0.42762	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233037	C	T	55233037	3	4	132	1	0	0	0	0	1	0	0	0	4967	652	23	2	1856	2	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	10518904	55233037	103905626	53	9057											
NPTX2	4885	broad.mit.edu	37	chr7	98254345	98254345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgtacgccttcaccaTctgcctgtggctgcggtcca	5	11	11	14	2	2	1	1	1	1	0	3	1	3	1	4	2	4	3	4	2	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:98254345T>A	ENST00000265634.3	+	3	920	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	252	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTTCACCATCTGCCTGTGG	0.592																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(754-756)aTc>aAc		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							175	139	151					7																	98254345		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254345T>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.755T>A	7.37:g.98254345T>A	ENSP00000265634:p.Ile252Asn						p.I252N	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	932	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		252			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.755T>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862194	0.91511	.	.	ENSG00000106236	ENST00000265634	T	0.63417	-0.04	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.111405	0.64402	D	0.000006	T	0.76528	0.4000	M	0.76574	2.34	0.54753	D	0.999987	D	0.61697	0.99	P	0.60541	0.876	T	0.79918	-0.1600	10	0.87932	D	0	-42.8565	15.0831	0.72130	0.0:0.0:0.0:1.0	.	252	P47972	NPTX2_HUMAN	N	252	ENSP00000265634:I252N	ENSP00000265634:I252N	I	+	2	0	NPTX2	98092281	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.997000	0.88414	2.154000	0.67381	0.459000	0.35465	ATC		0.592	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		A	98254345	T	A	98254345	3	1	132	1	0	0	0	0	1	0	0	0	10603	1435	50	5	765	5	NPTX2	7	98254345	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	43021308	98254345	60884318	54	9058											
LAMB4	22798	broad.mit.edu	37	chr7	107706294	107706294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaatactgattgcttgaggGatcatctggacacaggcaag	14	9	11	7	0	2	2	1	2	1	0	2	4	2	4	0	3	2	2	0	3	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:107706294G>A	ENST00000388781.3	-	21	2832	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P917S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P917S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	917	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGCTTGAGGGATCATCTGGA	0.428																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2749-2751)Ccc>Tcc		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							168	159	162					7																	107706294		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706294G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2749C>T	7.37:g.107706294G>A	ENSP00000373433:p.Pro917Ser					LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	p.P917S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			20	2833	-			917			Laminin EGF-like 9.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2749C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504068	0.85176	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.60171	0.21;0.21;0.21	4.91	4.91	0.64330	EGF-like, laminin (2);	0.000000	0.51477	D	0.000100	T	0.72542	0.3473	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73739	-0.3888	10	0.54805	T	0.06	.	18.2933	0.90137	0.0:0.0:1.0:0.0	.	917	A4D0S4	LAMB4_HUMAN	S	917	ENSP00000205386:P917S;ENSP00000373433:P917S;ENSP00000373432:P917S	ENSP00000205386:P917S	P	-	1	0	LAMB4	107493530	0.986000	0.35501	0.678000	0.29963	0.824000	0.46624	4.730000	0.62015	2.548000	0.85928	0.563000	0.77884	CCC		0.428	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		A	107706294	G	A	107706294	3	1	132	1	0	0	0	0	1	0	0	0	8613	1174	41	3	2592	3	LAMB4	7	107706294	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9451949	107706294	51432369	55	9059											
MET	4233	broad.mit.edu	37	chr7	116398608	116398608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttagccaaccgagagaCaagcatcttcagttaccgtg	12	9	9	11	2	2	2	1	1	1	1	2	4	2	2	3	0	4	2	3	0	4	3	rs201271860		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:116398608C>A	ENST00000318493.6	+	9	2385	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	MET_ENST00000397752.3_Missense_Mutation_p.T733K|MET_ENST00000436117.2_Missense_Mutation_p.T733K			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACCGAGAGACAAGCATCTTC	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2197-2199)aCa>aAa		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.							91	82	85					7																	116398608		1830	4078	5908	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116398608C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2198C>A	7.37:g.116398608C>A	ENSP00000317272:p.Thr733Lys					MET_uc022akk.1_Missense_Mutation_p.T733K|MET_uc010lkh.3_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.2_Missense_Mutation_p.T733K|MET_uc011knj.2_Missense_Mutation_p.T303K	p.T733K	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2385	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	733			IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2198C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667759	0.29604	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117;ENST00000422097	T;T;T	0.73789	-0.78;-0.73;1.23	5.53	3.62	0.41486	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.427417	0.28273	N	0.015951	T	0.70631	0.3246	L	0.47078	1.49	0.28271	N	0.924398	B;B;P;B;B	0.34615	0.175;0.088;0.459;0.099;0.372	B;B;B;B;B	0.37833	0.09;0.028;0.259;0.047;0.112	T	0.67413	-0.5677	10	0.87932	D	0	.	14.3819	0.66916	0.0:0.9138:0.0:0.0862	.	733;733;733;733;733	B5A929;E7EQ94;B5A930;P08581-2;P08581	.;.;.;.;MET_HUMAN	K	733;733;733;13	ENSP00000380860:T733K;ENSP00000317272:T733K;ENSP00000410980:T733K	ENSP00000317272:T733K	T	+	2	0	MET	116185844	0.945000	0.32115	0.246000	0.24233	0.449000	0.32228	2.306000	0.43673	0.701000	0.31803	0.585000	0.79938	ACA		0.368	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116398608	C	A	116398608	3	1	132	1	0	0	0	0	1	0	0	0	9485	478	17	5	2228	5	MET	7	116398608	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	8692314	116398608	42740055	56	9060											
MSR1	4481	broad.mit.edu	37	chr8	16021738	16021738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatacattgtaaacaCgctcctctaatttactgatt	11	15	5	10	1	1	2	0	2	1	0	2	2	2	2	1	0	4	3	1	0	5	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:16021738C>T	ENST00000262101.5	-	5	774	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MSR1_ENST00000355282.2_Missense_Mutation_p.R218H|MSR1_ENST00000536385.1_De_novo_Start_OutOfFrame|MSR1_ENST00000381998.4_Missense_Mutation_p.R218H|MSR1_ENST00000350896.3_Missense_Mutation_p.R218H|MSR1_ENST00000445506.2_Missense_Mutation_p.R236H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	218					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTGTAAACACGCTCCTCTAA	0.338																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(706-708)cGt>cAt		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.							130	113	119					8																	16021738		2202	4299	6501	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16021738C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.653G>A	8.37:g.16021738C>T	ENSP00000262101:p.Arg218His					MSR1_uc003wwz.3_Missense_Mutation_p.R218H|MSR1_uc003wxa.3_Missense_Mutation_p.R218H|MSR1_uc003wxb.3_Missense_Mutation_p.R218H|MSR1_uc011kxz.2_5'UTR	p.R236H	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	771	-			218					D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.707G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845268	0.16963	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	4.65	0.776	0.18532	Macrophage scavenger receptor (1);	0.445008	0.21569	N	0.072438	T	0.70219	0.3199	L	0.53249	1.67	0.09310	N	0.999999	B;B;B;B	0.17667	0.014;0.023;0.023;0.014	B;B;B;B	0.14023	0.001;0.01;0.007;0.004	T	0.57619	-0.7780	10	0.40728	T	0.16	.	4.3308	0.11062	0.1489:0.5065:0.0:0.3446	.	236;218;218;218	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	H	218;218;236;218;8;218	ENSP00000262100:R218H;ENSP00000262101:R218H;ENSP00000405453:R236H;ENSP00000347430:R218H;ENSP00000430536:R8H;ENSP00000371428:R218H	ENSP00000262101:R218H	R	-	2	0	MSR1	16066109	0.000000	0.05858	0.011000	0.14972	0.723000	0.41478	-1.192000	0.03052	0.015000	0.14971	0.655000	0.94253	CGT		0.338	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			T	16021738	C	T	16021738	3	4	132	1	0	0	0	0	1	0	0	0	9886	536	19	1	774	1	MSR1	8	16021738	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		16021738	130342284	57	9061											
ZNF395	55893	broad.mit.edu	37	chr8	28210755	28210755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcggtctcaaagccatgatCagtttggggagaaccaaaag	14	8	11	8	1	2	2	2	1	1	1	4	3	2	2	2	3	2	1	2	3	4	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:28210755C>T	ENST00000344423.5	-	5	885	c.754G>A	c.(754-756)Gat>Aat	p.D252N	ZNF395_ENST00000523095.1_Missense_Mutation_p.D252N|ZNF395_ENST00000523202.1_Missense_Mutation_p.D252N	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAGCCATGATCAGTTTGGGGA	0.592																																						uc003xgq.3																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(754-756)Gat>Aat		Homo sapiens zinc finger protein 395 (ZNF395), mRNA.							52	56	55					8																	28210755		2203	4299	6502	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28210755C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.754G>A	8.37:g.28210755C>T	ENSP00000340494:p.Asp252Asn					ZNF395_uc003xgt.3_Missense_Mutation_p.D252N|ZNF395_uc003xgr.3_Missense_Mutation_p.D252N|ZNF395_uc003xgs.3_Missense_Mutation_p.D252N	p.D252N	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	4	842	-		Ovarian(32;2.06e-05)	252					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.754G>A	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251845	0.95336	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	D;D;D	0.84442	-1.85;-1.85;-1.85	5.4	5.4	0.78164	.	0.045176	0.85682	D	0.000000	D	0.92525	0.7626	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93155	0.6553	10	0.66056	D	0.02	-16.5323	16.6756	0.85278	0.0:1.0:0.0:0.0	.	252	Q9H8N7	ZN395_HUMAN	N	252	ENSP00000340494:D252N;ENSP00000429640:D252N;ENSP00000428452:D252N	ENSP00000340494:D252N	D	-	1	0	ZNF395	28266674	1.000000	0.71417	0.927000	0.36925	0.994000	0.84299	6.566000	0.73978	2.526000	0.85167	0.561000	0.74099	GAT		0.592	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			T	28210755	C	T	28210755	3	4	132	1	0	0	0	0	1	0	0	0	17878	826	29	3	811	3	ZNF395	8	28210755	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	12189017	28210755	118153267	58	9062											
FER1L6	654463	broad.mit.edu	37	chr8	125110059	125110059	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaccatctggaacactgaAgatgtcattttagaggatga	13	11	11	6	0	2	5	1	3	1	2	2	7	2	7	1	2	1	0	1	2	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:125110059A>G	ENST00000522917.1	+	37	5024	c.4818A>G	c.(4816-4818)gaA>gaG	p.E1606E	FER1L6_ENST00000399018.1_Silent_p.E1606E|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1606	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAACACTGAAGATGTCATTT	0.423																																						uc003yqw.3																			0		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4816-4818)gaA>gaG		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							113	106	108					8																	125110059		1963	4158	6121	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125110059A>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4818A>G	8.37:g.125110059A>G						AK057332_uc003yqy.1_Intron	p.E1606E	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		36	5024	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1606			C2 6.			Silent	SNP	ENST00000522917.1	37	c.4818A>G	CCDS43767.1																																																																																				0.423	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		G	125110059	A	G	125110059	2	3	132	1	0	0	0	0	0	0	0	1	5815	69	3	4		4	FER1L6	8	125110059	Silent	SNP	A	TCGA-14-0813-01A-01W-0424-08	96899304	125110059	21253963	59	9063											
NFIB	4781	broad.mit.edu	37	chr9	14155894	14155894	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactatcctcaaggtaaccTgaaaataaatattaaaggaa	21	9	5	6	0	1	1	1	1	0	0	2	2	2	2	2	2	2	1	2	2	12	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:14155894T>A	ENST00000380959.3	-	4	1090		c.e4-2		NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000397579.2_Splice_Site|NFIB_ENST00000543693.1_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CAAGGTAACCTGAAAATAAAT	0.274			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc022bdo.1				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e4-1		Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.							31	33	32					9																	14155894		2194	4265	6459	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14155894T>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.617-2A>T	9.37:g.14155894T>A						NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.G206_splice|NFIB_uc003zle.3_Splice_Site_p.G206_splice|NFIB_uc022bdp.1_Splice_Site_p.G232_splice|NFIB_uc011lmo.2_Splice_Site_p.G206_splice	p.G206_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	4	1152	-			206					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Splice_Site	SNP	ENST00000380959.3	37	c.617_splice	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672890	0.47781	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9365	0.79712	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFIB	14145894	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	7.139000	0.77314	2.164000	0.68074	0.528000	0.53228	.		0.274	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Intron	A	14155894	T	A	14155894	5	1	132	1	0	0	0	0	0	0	1	0	10371	1594	55	5	671	5	NFIB	9	14155894	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08		14155894	127057537	60	9064											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777209	18777209	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaaggaggccctgcagacCcacaaacaccagaacgggat	14	2	11	14	2	0	2	0	0	0	2	0	5	0	4	4	3	3	1	4	3	3	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:18777209C>G	ENST00000380548.4	+	19	3321	c.2982C>G	c.(2980-2982)acC>acG	p.T994T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	994						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCTGCAGACCCACAAACACC	0.687																																						uc003zne.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2980-2982)acC>acG		Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.							21	25	24					9																	18777209		1906	4106	6012	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777209C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2982C>G	9.37:g.18777209C>G							p.T994T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	3134	+			994					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2982C>G	CCDS47954.1																																																																																				0.687	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			G	18777209	C	G	18777209	2	3	132	1	0	0	0	0	0	0	0	1	274	610	22	5		5	ADAMTSL1	9	18777209	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	4621315	18777209	122436222	61	9065											
FAM108B1	51104	broad.mit.edu	37	chr9	74485080	74485080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcagaggagaatgaagaAtaacagcagcactctcatat	18	7	9	7	0	2	4	2	1	1	3	3	5	2	4	0	1	3	2	0	1	6	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:74485080A>G	ENST00000333421.6	-	3	677	c.566T>C	c.(565-567)aTt>aCt	p.I189T	ABHD17B_ENST00000377041.2_Missense_Mutation_p.I189T	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	189						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGAATGAAGAATAACAGCAGC	0.423																																						uc004ail.3																			0		p.V188D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						c.(565-567)aTt>aCt		Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.							170	154	160					9																	74485080		2203	4300	6503	SO:0001583	missense	51104					extracellular region	hydrolase activity	g.chr9:74485080A>G	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.566T>C	9.37:g.74485080A>G	ENSP00000330222:p.Ile189Thr					FAM108B1_uc004aim.1_Missense_Mutation_p.I189T	p.I189T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN			2	1168	-			189					A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.566T>C	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313911	0.81358	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51817	0.69;0.69	5.34	5.34	0.76211	.	0.098302	0.64402	D	0.000002	T	0.65984	0.2744	M	0.92367	3.3	0.58432	D	0.999995	P;P	0.50528	0.936;0.768	P;P	0.47705	0.555;0.543	T	0.77094	-0.2715	10	0.87932	D	0	-9.1313	15.6113	0.76721	1.0:0.0:0.0:0.0	.	189;189	Q5VST6;Q5VST6-2	F108B_HUMAN;.	T	189	ENSP00000366240:I189T;ENSP00000330222:I189T	ENSP00000330222:I189T	I	-	2	0	FAM108B1	73674900	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.152000	0.94680	2.151000	0.67156	0.533000	0.62120	ATT		0.423	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		G	74485080	A	G	74485080	3	3	132	1	0	0	0	0	1	0	0	0	5392	101	4	4	339	4	FAM108B1	9	74485080	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	55707871	74485080	66728351	62	9066											
TMC1	117531	broad.mit.edu	37	chr9	75406910	75406910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaatggctactgggaCgcatttttgctcttctttta	7	18	8	8	1	2	1	0	1	2	0	2	2	2	2	0	2	2	3	0	2	3	7	rs372710475		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:75406910C>T	ENST00000297784.5	+	16	1873	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	TMC1_ENST00000396237.3_Missense_Mutation_p.R445C|TMC1_ENST00000340019.3_Missense_Mutation_p.R445C	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	445					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTACTGGGACGCATTTTTGC	0.393																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1333-1335)Cgc>Tgc		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	252	234	240		1333	5.9	1	9		240	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMC1	NM_138691.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	445/761	75406910	1,13005	2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75406910C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1333C>T	9.37:g.75406910C>T	ENSP00000297784:p.Arg445Cys					TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	p.R445C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			15	1873	+			445					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1333C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106694	0.77096	0.0	1.16E-4	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.68181	-0.31;-0.31;-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65140	0.915;0.915;0.932	D	0.84993	0.0895	10	0.87932	D	0	-8.7585	16.5885	0.84745	0.1307:0.8692:0.0:0.0	.	412;412;445	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	C	445;445;412;412;412;439;445	ENSP00000297784:R445C;ENSP00000341433:R445C;ENSP00000379538:R445C	ENSP00000297784:R445C	R	+	1	0	TMC1	74596730	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.924000	0.56476	2.815000	0.96918	0.650000	0.86243	CGC		0.393	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			T	75406910	C	T	75406910	3	4	132	1	0	0	0	0	1	0	0	0	15981	536	19	1	1379	1	TMC1	9	75406910	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	921830	75406910	65806521	63	9067											
GRIN3A	116443	broad.mit.edu	37	chr9	104432454	104432454	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagaaaatggcccaaaggTtcattagaaaccttccagtc	15	9	7	10	0	1	2	1	0	0	2	3	2	2	2	3	2	2	1	3	2	6	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:104432454T>G	ENST00000361820.3	-	3	2840	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	747					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGCCCAAAGGTTCATTAGAAA	0.433																																						uc004bbp.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2239-2241)aAc>aCc		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						90	85	87					9																	104432454		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432454T>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2240A>C	9.37:g.104432454T>G	ENSP00000355155:p.Asn747Thr					GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	p.N747T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	2841	-		Acute lymphoblastic leukemia(62;0.0568)	747					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2240A>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322438	0.60634	.	.	ENSG00000198785	ENST00000361820	T	0.52526	0.66	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64032	-0.6502	10	0.26408	T	0.33	.	15.7635	0.78106	0.0:0.0:0.0:1.0	.	747	Q8TCU5	NMD3A_HUMAN	T	747	ENSP00000355155:N747T	ENSP00000355155:N747T	N	-	2	0	GRIN3A	103472275	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	6.246000	0.72405	2.191000	0.70037	0.473000	0.43528	AAC		0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			G	104432454	T	G	104432454	3	3	132	1	0	0	0	0	1	0	0	0	6783	1725	60	5	1135	5	GRIN3A	9	104432454	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	29025544	104432454	36780977	64	9068											
MUSK	4593	broad.mit.edu	37	chr9	113445003	113445003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggatgccttagttgaagaAgtggctactttcatgtgtgc	8	14	13	6	0	1	2	1	1	0	1	1	3	1	3	1	2	3	2	1	2	4	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:113445003A>T	ENST00000374448.4	+	2	263	c.129A>T	c.(127-129)gaA>gaT	p.E43D	MUSK_ENST00000189978.5_Missense_Mutation_p.E43D|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000416899.2_Missense_Mutation_p.E43D	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	43	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TAGTTGAAGAAGTGGCTACTT	0.378																																						uc022blv.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(127-129)gaA>gaT		Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.							176	165	168					9																	113445003		1874	4112	5986	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113445003A>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.129A>T	9.37:g.113445003A>T	ENSP00000363571:p.Glu43Asp					MUSK_uc022blt.1_Missense_Mutation_p.E43D|MUSK_uc004bez.2_Missense_Mutation_p.E43D|MUSK_uc022blu.1_Missense_Mutation_p.E43D	p.E43D	NM_005592	NP_005583	O15146	MUSK_HUMAN			1	263	+			43			Ig-like 1.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.129A>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953470	0.34471	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.40225	1.04	5.45	-0.883	0.10600	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.194167	0.45126	D	0.000384	T	0.21674	0.0522	L	0.35341	1.055	0.80722	D	1	B;B	0.15473	0.0;0.013	B;B	0.15052	0.004;0.012	T	0.06445	-1.0826	10	0.19147	T	0.46	.	1.7908	0.03051	0.3147:0.1167:0.3599:0.2088	.	43;43	O15146;F5H6T2	MUSK_HUMAN;.	D	43	ENSP00000363571:E43D	ENSP00000189978:E43D	E	+	3	2	MUSK	112484824	0.610000	0.26983	0.997000	0.53966	0.997000	0.91878	-0.229000	0.09098	-0.165000	0.10908	0.455000	0.32223	GAA		0.378	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	113445003	A	T	113445003	3	4	132	1	0	0	0	0	1	0	0	0	9989	69	3	5	135	5	MUSK	9	113445003	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	9012549	113445003	27768428	65	9069											
GDF2	2658	broad.mit.edu	37	chr10	48413956	48413956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagccacgtggccatcCgtgtcctcctcgtgactgct	4	9	10	18	4	0	1	0	1	0	0	4	1	3	1	6	1	2	2	6	1	0	0	rs201627211		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:48413956C>T	ENST00000249598.1	-	2	1071	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	304					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGTGGCCATCCGTGTCCTCCT	0.607																																						uc001jfa.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(910-912)acG>acA		Homo sapiens growth differentiation factor 2 (GDF2), mRNA.							78	66	70					10																	48413956		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413956C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.912G>A	10.37:g.48413956C>T							p.T304T	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			1	1072	-			304					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.912G>A	CCDS7219.1																																																																																				0.607	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		T	48413956	C	T	48413956	2	4	132	1	0	0	0	0	0	0	0	1	6314	639	23	2		2	GDF2	10	48413956	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08		48413956	87120791	66	9070											
A1CF	29974	broad.mit.edu	37	chr10	52566580	52566580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctaagtcttgtccaaggGttaccgcttgcttgagctgg	6	13	12	10	1	1	1	0	1	1	0	2	1	2	1	2	2	4	5	2	2	3	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:52566580G>T	ENST00000373993.1	-	11	1738	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	A1CF_ENST00000282641.2_Missense_Mutation_p.T565N|A1CF_ENST00000373997.3_Missense_Mutation_p.T557N|A1CF_ENST00000374001.2_Missense_Mutation_p.T557N|A1CF_ENST00000373995.3_Missense_Mutation_p.T565N|A1CF_ENST00000395489.2_Missense_Mutation_p.T558N|A1CF_ENST00000395495.1_Missense_Mutation_p.T510N|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	565					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGTCCAAGGGTTACCGCTTG	0.493																																						uc001jjj.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1693-1695)aCc>aAc		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.							135	120	125					10																	52566580		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52566580G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1694C>A	10.37:g.52566580G>T	ENSP00000363105:p.Thr565Asn					A1CF_uc010qho.2_Missense_Mutation_p.T573N|A1CF_uc010qhn.2_Missense_Mutation_p.T565N|A1CF_uc009xov.3_Missense_Mutation_p.T557N|A1CF_uc001jji.3_Missense_Mutation_p.T557N|A1CF_uc001jjh.3_Missense_Mutation_p.T565N	p.T565N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			12	1882	-			565					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1694C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220180	0.58560	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.13307	2.72;2.73;2.72;2.71;2.73;2.6;2.73	5.74	4.81	0.61882	.	0.748846	0.13602	N	0.375743	T	0.12603	0.0306	N	0.24115	0.695	0.36598	D	0.874494	P;B;B;P	0.46142	0.873;0.281;0.403;0.873	B;B;B;B	0.42282	0.295;0.04;0.087;0.382	T	0.15178	-1.0446	10	0.72032	D	0.01	-4.3967	13.5326	0.61631	0.0:0.0:0.8429:0.1571	.	558;565;557;565	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	N	557;565;557;565;565;510;540;558	ENSP00000363113:T557N;ENSP00000363105:T565N;ENSP00000363109:T557N;ENSP00000363107:T565N;ENSP00000282641:T565N;ENSP00000378873:T510N;ENSP00000378868:T558N	ENSP00000282641:T565N	T	-	2	0	A1CF	52236586	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.327000	0.79147	1.360000	0.45960	0.650000	0.86243	ACC		0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		T	52566580	G	T	52566580	3	4	132	1	0	0	0	0	1	0	0	0	2	1261	44	5	94	5	A1CF	10	52566580	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	4152624	52566580	82968167	67	9071											
PTEN	5728	broad.mit.edu	37	chr10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatcatgttgcagcaattCactgtaaagctggaaaggga	15	9	10	7	0	2	0	2	0	0	0	2	2	2	2	0	2	3	5	0	2	5	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:89692883C>T	ENST00000371953.3	+	5	1724	c.367C>T	c.(367-369)Cac>Tac	p.H123Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.H123D(1)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.H123Y(10)|p.I122fs*2(6)|p.?(5)|p.R55fs*1(5)|p.H123D(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|endometrium(6)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM020755	PTEN	M		c.(367-369)Cac>Tac		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							140	129	132					10																	89692883		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692883C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.367C>T	10.37:g.89692883C>T	ENSP00000361021:p.His123Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.H123Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1399	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	123		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.367C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903384	0.92035	.	.	ENSG00000171862	ENST00000371953	D	0.99903	-7.67	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95932	0.8939	9	.	.	.	-8.7537	18.7776	0.91918	0.0:1.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	Y	123	ENSP00000361021:H123Y	.	H	+	1	0	PTEN	89682863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	CAC		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692883	C	T	89692883	3	4	132	1	0	0	0	0	1	0	0	0	12738	826	29	3	385	3	PTEN	10	89692883	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	37126303	89692883	45841864	68	9072											
FAM178A	55719	broad.mit.edu	37	chr10	102676871	102676871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttgtcactagcttcttaCtgcagagaacgagaactaaa	14	10	8	9	1	2	2	1	0	1	2	2	4	2	2	0	0	5	3	0	0	6	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:102676871C>T	ENST00000238961.4	+	3	1271	c.729C>T	c.(727-729)taC>taT	p.Y243Y	FAM178A_ENST00000370269.3_Silent_p.Y243Y|FAM178A_ENST00000370271.3_Silent_p.Y243Y	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	243						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TAGCTTCTTACTGCAGAGAAC	0.473																																						uc001krs.3																			0											c.(727-729)taC>taT		Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.							61	63	63					10																	102676871		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102676871C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.729C>T	10.37:g.102676871C>T						FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.4_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	p.Y243Y	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN			2	1271	+			243					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.729C>T	CCDS7500.1																																																																																				0.473	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			T	102676871	C	T	102676871	2	4	132	1	0	0	0	0	0	0	0	1	5503	576	20	3		3	FAM178A	10	102676871	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	12983988	102676871	32857876	69	9073											
PCGF6	84108	broad.mit.edu	37	chr10	105108477	105108477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatattcttcttaccttaTgttataaagaggttgtgtct	10	20	6	5	0	3	1	0	0	3	1	3	1	3	1	1	1	1	2	1	1	8	10	rs200230704		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:105108477T>C	ENST00000369847.3	-	3	620	c.553A>G	c.(553-555)Ata>Gta	p.I185V	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.I185V	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	185					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTTACCTTATGTTATAAAGA	0.284													T|||	1	0.000199681	0	0	5008	,	,		18877	0		0.001	False		,,,				2504	0					uc001kwt.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(553-555)Ata>Gta		Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.							63	65	64					10																	105108477		2203	4300	6503	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105108477T>C	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.553A>G	10.37:g.105108477T>C	ENSP00000358862:p.Ile185Val					PCGF6_uc001kwu.3_Missense_Mutation_p.I185V|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	p.I185V	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	2	621	-		Colorectal(252;0.0747)|Breast(234;0.128)	185					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.553A>G	CCDS31275.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	17.98	3.519798	0.64634	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.34275	1.37;1.42	4.92	4.92	0.64577	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.75615	2.305	0.80722	D	1	D;D	0.57899	0.981;0.963	D;D	0.64877	0.91;0.93	T	0.62656	-0.6808	10	0.59425	D	0.04	.	14.5268	0.67894	0.0:0.0:0.0:1.0	.	185;185	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	V	185	ENSP00000358862:I185V;ENSP00000338845:I185V	ENSP00000338845:I185V	I	-	1	0	PCGF6	105098467	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.478000	0.81082	1.967000	0.57214	0.402000	0.26972	ATA		0.284	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		C	105108477	T	C	105108477	3	2	132	1	0	0	0	0	1	0	0	0	11578	1464	51	4	531	4	PCGF6	10	105108477	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	2431606	105108477	30426270	70	9074											
OR56B4	196335	broad.mit.edu	37	chr11	6129052	6129052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgactccagcctccagaTttcccagttcatcctgatgg	8	12	7	14	0	1	3	1	2	0	1	5	3	5	3	5	1	1	1	5	1	1	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:6129052T>A	ENST00000316529.3	+	1	139	c.44T>A	c.(43-45)aTt>aAt	p.I15N	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCAGATTTCCCAGTTC	0.493																																						uc010qzx.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(43-45)aTt>aAt		Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.							71	64	66					11																	6129052		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129052T>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.44T>A	11.37:g.6129052T>A	ENSP00000321196:p.Ile15Asn						p.I15N	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	44	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	15					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.44T>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863317	0.51482	.	.	ENSG00000180919	ENST00000316529	T	0.00561	6.59	4.14	2.97	0.34412	.	0.799989	0.10012	N	0.727124	T	0.00845	0.0028	L	0.41573	1.285	0.09310	N	1	D	0.59357	0.985	P	0.52710	0.707	T	0.57590	-0.7785	10	0.87932	D	0	.	5.9335	0.19152	0.156:0.0875:0.0:0.7565	.	15	Q8NH76	O56B4_HUMAN	N	15	ENSP00000321196:I15N	ENSP00000321196:I15N	I	+	2	0	OR56B4	6085628	0.014000	0.17966	0.000000	0.03702	0.100000	0.18952	2.083000	0.41615	0.692000	0.31613	0.524000	0.50904	ATT		0.493	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		A	6129052	T	A	6129052	3	1	132	1	0	0	0	0	1	0	0	0	11138	1493	52	5	46	5	OR56B4	11	6129052	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		6129052	128877464	71	9075											
QSER1	79832	broad.mit.edu	37	chr11	32954286	32954286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtttataggtccagcaaGgttgagaaattgccaccctt	11	11	10	9	0	0	1	0	1	0	1	1	2	1	1	3	3	2	3	3	3	4	6			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:32954286G>A	ENST00000399302.2	+	4	1430	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	365	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTCCAGCAAGGTTGAGAAAT	0.383																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(1093-1095)aaG>aaA		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							134	125	128					11																	32954286		1860	4089	5949	SO:0001819	synonymous_variant	79832							g.chr11:32954286G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1095G>A	11.37:g.32954286G>A						QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank	p.K365K	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			3	1362	+	Breast(20;0.158)		365			Ser-rich.		Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.1095G>A	CCDS41631.1																																																																																				0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		A	32954286	G	A	32954286	2	1	132	1	0	0	0	0	0	0	0	1	12882	991	35	3		3	QSER1	11	32954286	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	26825234	32954286	102052230	72	9076											
OR5AR1	219493	broad.mit.edu	37	chr11	56431526	56431526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccatggcctatggtcGttttgtggccatttgtcgac	5	13	13	10	2	0	0	0	0	0	0	2	1	0	0	3	4	1	2	3	4	1	4	rs143043362		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:56431526G>A	ENST00000302969.2	+	1	389	c.365G>A	c.(364-366)cGt>cAt	p.R122H		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCCTATGGTCGTTTTGTGGCC	0.512													G|||	1	0.000199681	0	0.0014	5008	,	,		20028	0		0	False		,,,				2504	0					uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(364-366)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	181	169	173		365	3	1	11	dbSNP_134	173	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5AR1	NM_001004730.1	29	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	122/311	56431526	2,12992	2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431526G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.365G>A	11.37:g.56431526G>A	ENSP00000302639:p.Arg122His					OR8U8_uc001nit.2_Intron	p.R122H	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	365	+			122					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.365G>A	CCDS31535.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.19	3.568113	0.65651	2.27E-4	1.16E-4	ENSG00000172459	ENST00000302969	T	0.77489	-1.1	4.94	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000365	T	0.75561	0.3866	M	0.84948	2.725	0.32544	N	0.53322	B	0.31519	0.327	B	0.23419	0.046	T	0.81163	-0.1058	10	0.72032	D	0.01	.	9.0392	0.36307	0.0782:0.0:0.7761:0.1457	.	122	Q8NGP9	O5AR1_HUMAN	H	122	ENSP00000302639:R122H	ENSP00000302639:R122H	R	+	2	0	OR5AR1	56188102	0.997000	0.39634	0.984000	0.44739	0.722000	0.41435	5.070000	0.64376	1.321000	0.45227	0.573000	0.79308	CGT		0.512	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		A	56431526	G	A	56431526	3	1	132	1	0	0	0	0	1	0	0	0	11145	1145	40	1	367	1	OR5AR1	11	56431526	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	23477240	56431526	78574990	73	9077											
MS4A14	84689	broad.mit.edu	37	chr11	60183888	60183888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccatagaagaaaatccTcaagacggcattccttaaac	17	8	5	11	1	1	3	1	0	0	3	4	3	4	3	3	1	2	1	3	1	8	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:60183888T>A	ENST00000300187.6	+	5	1724	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	MS4A14_ENST00000531783.1_Missense_Mutation_p.S516T|MS4A14_ENST00000531787.1_Missense_Mutation_p.S371T|MS4A14_ENST00000395005.2_Missense_Mutation_p.S466T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	483	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAAAATCCTCAAGACGGCA	0.398																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1447-1449)Tca>Aca		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							78	81	80					11																	60183888		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183888T>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1447T>A	11.37:g.60183888T>A	ENSP00000300187:p.Ser483Thr					MS4A14_uc001npi.3_Missense_Mutation_p.S371T|MS4A14_uc001npn.3_Missense_Mutation_p.S221T|MS4A14_uc001npk.3_Missense_Mutation_p.S466T|MS4A14_uc001npl.3_Missense_Mutation_p.S221T|MS4A14_uc001npm.3_Missense_Mutation_p.S221T	p.S483T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	2012	+			483			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1447T>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411544	0.42817	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.8;1.57;3.14	4.13	-8.27	0.01017	.	4.314310	0.00855	N	0.001874	T	0.18882	0.0453	L	0.27053	0.805	0.09310	N	1	B;B	0.24576	0.106;0.064	B;B	0.25140	0.058;0.026	T	0.09618	-1.0666	10	0.33940	T	0.23	-0.1373	6.5781	0.22577	0.3455:0.4884:0.0:0.166	.	466;483	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	371;483;466;516	ENSP00000437222:S371T;ENSP00000300187:S483T;ENSP00000378453:S466T;ENSP00000433761:S516T	ENSP00000300187:S483T	S	+	1	0	MS4A14	59940464	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.184000	0.03076	-2.198000	0.00749	0.528000	0.53228	TCA		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			A	60183888	T	A	60183888	3	1	132	1	0	0	0	0	1	0	0	0	9858	1551	54	5	1465	5	MS4A14	11	60183888	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	3752362	60183888	74822628	74	9078											
AHNAK	79026	broad.mit.edu	37	chr11	62285625	62285625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccccttggcattgaCgtgcaagtcggaccccggag	6	8	14	13	3	0	1	0	1	0	0	1	3	0	3	4	4	1	2	4	4	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:62285625C>T	ENST00000378024.4	-	5	16538	c.16264G>A	c.(16264-16266)Gtc>Atc	p.V5422I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5422					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGCATTGACGTGCAAGTCG	0.532																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16264-16266)Gtc>Atc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							69	70	70					11																	62285625		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285625C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16264G>A	11.37:g.62285625C>T	ENSP00000367263:p.Val5422Ile					AHNAK_uc001ntk.1_Intron	p.V5422I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	16564	-		Melanoma(852;0.155)	5422					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16264G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	0.552	-0.848962	0.02651	.	.	ENSG00000124942	ENST00000378024	T	0.01197	5.19	4.69	-2.36	0.06663	.	0.682915	0.11989	N	0.509971	T	0.01029	0.0034	N	0.25332	0.735	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.43507	-0.9387	10	0.23302	T	0.38	.	11.9333	0.52860	0.0:0.6823:0.0:0.3177	.	5422	Q09666	AHNK_HUMAN	I	5422	ENSP00000367263:V5422I	ENSP00000367263:V5422I	V	-	1	0	AHNAK	62042201	0.000000	0.05858	0.018000	0.16275	0.006000	0.05464	-3.540000	0.00437	-0.446000	0.07149	-0.397000	0.06425	GTC		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62285625	C	T	62285625	3	4	132	1	0	0	0	0	1	0	0	0	414	536	19	1	1528	1	AHNAK	11	62285625	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	2101737	62285625	72720891	75	9079											
RBM4	5936	broad.mit.edu	37	chr11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-																															cctcaggagctgctgccacaGctgctgctgcagcagcagcc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						uc009yrj.3																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(856-876)gctgctgctgcagcagcagccdel		Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	5936				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del					RBM14_uc009yrk.3_In_Frame_Del_p.AAAAAAA261del|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_In_Frame_Del_p.AAAAAAA286del|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA286del	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN			2	1344_1364	+			480			Ala-rich.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.856_876delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		-	66411384	GCTGCTGCTGCAGCAGCAGCC	-	66411364	7	5	132	1	0	1	0	1	0	0	0	0	13134	971	34	0	862	0	RBM4	11	66411364	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	TCGA-14-0813-01A-01W-0424-08	4125739	66411364	68595152	76	9080											
DHH	50846	broad.mit.edu	37	chr12	49483743	49483743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcgcccctagcgcgtGcagcagtctcaagggggcaa	9	4	15	13	3	1	0	1	0	1	0	2	1	1	0	2	2	5	4	2	2	3	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:49483743G>A	ENST00000266991.2	-	3	1396	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	364					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CCTAGCGCGTGCAGCAGTCTC	0.667																																						uc001rtf.3																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(1090-1092)Cac>Tac		Homo sapiens desert hedgehog (DHH), mRNA.							9	11	10					12																	49483743		2196	4283	6479	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49483743G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1090C>T	12.37:g.49483743G>A	ENSP00000266991:p.His364Tyr						p.H364Y	NM_021044	NP_066382	O43323	DHH_HUMAN			2	1397	-			364					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.1090C>T	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	g	5.408	0.260404	0.10239	.	.	ENSG00000139549	ENST00000266991	D	0.99277	-5.67	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.459027	0.25400	N	0.030954	D	0.96793	0.8953	L	0.31120	0.905	0.30292	N	0.790325	B	0.13145	0.007	B	0.08055	0.003	D	0.92603	0.6093	10	0.15499	T	0.54	-12.0006	12.2154	0.54404	0.0:0.0:0.8294:0.1706	.	364	O43323	DHH_HUMAN	Y	364	ENSP00000266991:H364Y	ENSP00000266991:H364Y	H	-	1	0	DHH	47770010	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	4.185000	0.58330	2.654000	0.90174	0.556000	0.70494	CAC		0.667	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		A	49483743	G	A	49483743	3	1	132	1	0	0	0	0	1	0	0	0	4483	1319	46	3	104	3	DHH	12	49483743	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		49483743	84368152	77	9081											
ACVRL1	94	broad.mit.edu	37	chr12	52312886	52312887	+	Missense_Mutation	DNP	TG	TG	GT																															ccccaccatccctaaccggcTggctgcagacccggtgaggc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:52312886_52312887TG>GT	ENST00000388922.4	+	9	1647_1648	c.1364_1365TG>GT	c.(1363-1365)cTG>cGT	p.L455R	ACVRL1_ENST00000550683.1_Missense_Mutation_p.L469R|ACVRL1_ENST00000419526.2_Missense_Mutation_p.L281R	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTAACCGGCTGGCTGCAGACC	0.599																																						uc001rzj.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1363-1365)ctg>cGT		Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)																																			SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312886_52312887TG>GT	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	Exception_encountered	12.37:g.52312886_52312887delinsGT	ENSP00000373574:p.Leu455Arg					ACVRL1_uc001rzk.3_Missense_Mutation_p.L455R|ACVRL1_uc010snm.2_Missense_Mutation_p.L281R	p.L455R	NM_000020	NP_001070869	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1647_1648	+			455			Protein kinase.		A6NGA8	Missense_Mutation	DNP	ENST00000388922.4	37	c.1364_1365TG>GT	CCDS31804.1																																																																																				0.599	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			GT	52312887	TG	GT	52312886	3	3	132	1	0	0	0	0	1	0	0	0	225	1580	55	5	1394	5	ACVRL1	12	52312886	Missense_Mutation	DNP	TG	TCGA-14-0813-01A-01W-0424-08	2829143	52312886	81539009	78	9082											
TPCN1	53373	broad.mit.edu	37	chr12	113730818	113730818	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctctaccgggaggcacgGggggcctcctcggatgtcac	6	6	16	13	3	2	0	1	0	1	0	4	3	3	2	3	6	2	2	3	6	1	1	rs367617972		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:113730818G>C	ENST00000335509.6	+	26	2507	c.2193G>C	c.(2191-2193)cgG>cgC	p.R731R	TPCN1_ENST00000550785.1_Silent_p.R803R|TPCN1_ENST00000541517.1_Silent_p.R803R|TPCN1_ENST00000392569.4_Silent_p.R663R	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	731					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGGAGGCACGGGGGGCCTCCT	0.617																																						uc001tux.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2407-2409)cgG>cgC		Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.							41	42	42					12																	113730818		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113730818G>C	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2193G>C	12.37:g.113730818G>C						TPCN1_uc001tuw.3_Silent_p.R731R|TPCN1_uc010syu.2_5'Flank	p.R803R	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN			26	2583	+			731					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.2409G>C	CCDS31908.1																																																																																				0.617	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		C	113730818	G	C	113730818	2	2	132	1	0	0	0	0	0	0	0	1	16392	1219	43	5		5	TPCN1	12	113730818	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	61417932	113730818	20121077	79	9083											
ORAI1	84876	broad.mit.edu	37	chr12	122079191	122079191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccttctccaccgtcatcgGcacgctgctcttcctagctg	4	11	9	17	3	3	0	1	0	2	0	6	0	4	0	4	2	2	4	4	2	1	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:122079191G>A	ENST00000330079.7	+	2	747	c.554G>A	c.(553-555)gGc>gAc	p.G185D		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	183					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ACCGTCATCGGCACGCTGCTC	0.637																																						uc021rff.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(553-555)gGc>gAc		Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.							67	70	69					12																	122079191		2203	4300	6503	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079191G>A	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"ORAI calcium release-activated calcium modulators"	25896	protein-coding gene	gene with protein product	"calcium release-activated calcium modulator 1"	610277	"transmembrane protein 142A"	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.554G>A	12.37:g.122079191G>A	ENSP00000328216:p.Gly185Asp						p.G185D	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	1	747	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		183					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.554G>A	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838602	0.91117	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.75154	-0.91;-0.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.89118	0.3501	10	0.87932	D	0	-36.7201	19.8013	0.96509	0.0:0.0:1.0:0.0	.	183	Q96D31	CRCM1_HUMAN	D	185;80	ENSP00000328216:G185D;ENSP00000441198:G80D	ENSP00000328216:G185D	G	+	2	0	ORAI1	120563574	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	9.813000	0.99286	2.761000	0.94854	0.591000	0.81541	GGC		0.637	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		A	122079191	G	A	122079191	3	1	132	1	0	0	0	0	1	0	0	0	11257	1203	42	3	560	3	ORAI1	12	122079191	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	8348373	122079191	11772704	80	9084											
ENOX1	55068	broad.mit.edu	37	chr13	43935415	43935415	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcataggcgttacttacTtggattttgaggaaaaagag	12	14	10	5	1	1	2	1	1	1	1	2	4	1	4	0	3	2	1	0	3	5	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr13:43935415T>C	ENST00000261488.6	-	6	959	c.382A>G	c.(382-384)Aat>Gat	p.N128D	ENOX1_ENST00000412891.1_Splice_Site_p.N128D|ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	128	Pro-rich.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTTACTTACTTGGATTTTGA	0.378																																						uc001uza.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.e6+1		Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.							77	81	80					13																	43935415		2203	4300	6503	SO:0001630	splice_region_variant	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935415T>C	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.382+1A>G	13.37:g.43935415T>C						ENOX1_uc001uzc.4_Splice_Site_p.N128_splice|ENOX1_uc001uzb.4_Splice_Site_p.N128_splice|ENOX1_uc010tfm.1_5'Flank	p.N128_splice	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	682	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	128			Pro-rich.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.382_splice	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681698	0.47991	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.74315	-0.83;-0.83	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.84192	0.5418	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.84305	0.0507	9	.	.	.	-4.4463	15.6384	0.76973	0.0:0.0:0.0:1.0	.	128	Q8TC92	ENOX1_HUMAN	D	128	ENSP00000261488:N128D;ENSP00000415054:N128D	.	N	-	1	0	ENOX1	42833415	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.678000	0.84035	2.105000	0.64084	0.533000	0.62120	AAT		0.378	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	Missense_Mutation	C	43935415	T	C	43935415	5	2	132	1	0	0	0	0	0	0	1	0	5126	1623	56	4	1597	4	ENOX1	13	43935415	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08		43935415	71234463	81	9085											
PRKD1	5587	broad.mit.edu	37	chr14	30068325	30068325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggtgccgcaaagccaCgagtatctgtaaagaagaat	16	7	11	7	2	1	3	0	1	1	2	1	4	1	3	2	1	2	3	2	1	7	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr14:30068325C>T	ENST00000331968.5	-	15	2303	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	PRKD1_ENST00000415220.2_Missense_Mutation_p.V700M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCAAAGCCACGAGTATCTGT	0.368																																						uc001wqh.3																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2074-2076)Gtg>Atg		Homo sapiens protein kinase D1 (PRKD1), mRNA.							85	84	85					14																	30068325		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068325C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2074G>A	14.37:g.30068325C>T	ENSP00000333568:p.Val692Met					MIR548AI_uc021rrv.1_Intron	p.V692M	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2255	-	Hepatocellular(127;0.0604)		692			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2074G>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134400	0.77662	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65364	-0.15;-0.15	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.57636	0.2067	L	0.31420	0.93	0.58432	D	0.999999	D	0.58268	0.982	P	0.44921	0.464	T	0.61466	-0.7057	10	0.54805	T	0.06	-18.0123	19.9348	0.97133	0.0:1.0:0.0:0.0	.	692	Q15139	KPCD1_HUMAN	M	692;700	ENSP00000333568:V692M;ENSP00000390535:V700M	ENSP00000333568:V692M	V	-	1	0	PRKD1	29138076	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.876000	0.63079	2.789000	0.95967	0.591000	0.81541	GTG		0.368	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30068325	C	T	30068325	3	4	132	1	0	0	0	0	1	0	0	0	12518	536	19	1	680	1	PRKD1	14	30068325	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		30068325	77281215	82	9086											
MKRN3	7681	broad.mit.edu	37	chr15	23811197	23811197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtccgttgccaagcCgaagcagcggcatttggaca	9	6	13	13	3	0	0	0	0	0	0	1	2	1	1	4	3	4	3	4	3	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:23811197C>T	ENST00000314520.3	+	1	744	c.268C>T	c.(268-270)Cga>Tga	p.R90*	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Nonsense_Mutation_p.R90*|MKRN3_ENST00000568252.1_Nonsense_Mutation_p.R90*	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	90					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTTGCCAAGCCGAAGCAGCGG	0.607																																						uc001ywh.4																			0		p.R90L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(268-270)Cga>Tga		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							43	42	43					15																	23811197		2203	4300	6503	SO:0001587	stop_gained	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811197C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.268C>T	15.37:g.23811197C>T	ENSP00000313881:p.Arg90*					MKRN3_uc001ywi.3_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	p.R90*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	744	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	90						Nonsense_Mutation	SNP	ENST00000314520.3	37	c.268C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.186684	0.57909	.	.	ENSG00000179455	ENST00000314520	.	.	.	3.83	0.916	0.19373	.	0.301034	0.18297	N	0.145559	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3804	0.04353	0.197:0.5034:0.191:0.1086	.	.	.	.	X	90	.	ENSP00000313881:R90X	R	+	1	2	MKRN3	21362290	0.004000	0.15560	0.001000	0.08648	0.016000	0.09150	0.575000	0.23729	0.215000	0.20761	0.563000	0.77884	CGA		0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811197	C	T	23811197	4	4	132	1	0	0	0	0	0	1	0	0	9608	644	23	2	270	2	MKRN3	15	23811197	Nonsense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		23811197	78720195	83	9087											
FBN1	2200	broad.mit.edu	37	chr15	48744871	48744871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgggccgttctgacaCtcgtcaatatctacgagcag	10	9	9	13	3	3	1	1	1	2	0	4	2	3	1	1	1	2	2	1	1	3	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:48744871C>A	ENST00000316623.5	-	45	5888	c.5433G>T	c.(5431-5433)gaG>gaT	p.E1811D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1811	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTTCTGACACTCGTCAATAT	0.488																																						uc001zwx.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(5431-5433)gaG>gaT		Homo sapiens fibrillin 1 (FBN1), mRNA.							92	73	80					15																	48744871		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48744871C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5433G>T	15.37:g.48744871C>A	ENSP00000325527:p.Glu1811Asp					FBN1_uc010beo.2_Non-coding_Transcript	p.E1811D	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	44	5828	-		all_lung(180;0.00279)	1811			EGF-like 30; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5433G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662697	0.67700	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.98807	-5.15	5.49	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	M	0.82193	2.58	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.98468	1.0599	10	0.72032	D	0.01	.	7.2104	0.25931	0.0:0.7585:0.0:0.2415	.	1811	P35555	FBN1_HUMAN	D	1811;379;701	ENSP00000325527:E1811D	ENSP00000325527:E1811D	E	-	3	2	FBN1	46532163	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	0.976000	0.29462	2.746000	0.94184	0.561000	0.74099	GAG		0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48744871	C	A	48744871	3	1	132	1	0	0	0	0	1	0	0	0	5702	564	20	5	3270	5	FBN1	15	48744871	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	24933674	48744871	53786521	84	9088											
VPS13C	54832	broad.mit.edu	37	chr15	62292774	62292774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgattacctcaacttgtgCttgttgccttgctaaaatta	11	16	6	8	0	1	1	1	1	0	0	1	1	1	1	2	0	5	3	2	0	6	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:62292774C>A	ENST00000261517.5	-	16	1415	c.1342G>T	c.(1342-1344)Gca>Tca	p.A448S	VPS13C_ENST00000249837.3_Missense_Mutation_p.A405S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A448S|VPS13C_ENST00000395898.3_Missense_Mutation_p.A405S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAACTTGTGCTTGTTGCCTT	0.308																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1342-1344)Gca>Tca		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.							70	72	71					15																	62292774		2202	4299	6501	SO:0001583	missense	54832				protein localization			g.chr15:62292774C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1342G>T	15.37:g.62292774C>A	ENSP00000261517:p.Ala448Ser					VPS13C_uc002aha.3_Missense_Mutation_p.A405S|VPS13C_uc002ahb.2_Missense_Mutation_p.A448S|VPS13C_uc002ahc.2_Missense_Mutation_p.A405S	p.A448S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			15	1433	-			448						Missense_Mutation	SNP	ENST00000261517.5	37	c.1342G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381710	0.82792	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.61274	0.19;0.12;0.31	5.47	4.55	0.56014	.	0.061192	0.64402	D	0.000004	T	0.77870	0.4195	M	0.86651	2.83	0.48395	D	0.999647	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.77557	0.983;0.99;0.976;0.977	T	0.81782	-0.0775	10	0.72032	D	0.01	.	13.0789	0.59102	0.0:0.9228:0.0:0.0772	.	405;448;405;448	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	405;448;448;448	ENSP00000249837:A405S;ENSP00000261517:A448S;ENSP00000379233:A448S	ENSP00000249837:A405S	A	-	1	0	VPS13C	60080066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	1.310000	0.45006	0.555000	0.69702	GCA		0.308	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62292774	C	A	62292774	3	1	132	1	0	0	0	0	1	0	0	0	17188	797	28	5	10227	5	VPS13C	15	62292774	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	13547903	62292774	40238618	85	9089											
TLN2	83660	broad.mit.edu	37	chr15	63058560	63058560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcggtggtccaggaaatcgGacaccttatcgatcccatcg	9	10	10	12	4	0	0	0	0	0	0	6	3	2	2	3	4	0	0	3	4	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:63058560G>A	ENST00000561311.1	+	40	5365	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	TLN2_ENST00000472902.1_Missense_Mutation_p.G105E|TLN2_ENST00000306829.6_Missense_Mutation_p.G1712E			Q9Y4G6	TLN2_HUMAN	talin 2	1712					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGAAATCGGACACCTTATC	0.572																																						uc002alb.4																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5134-5136)gGa>gAa		Homo sapiens talin 2 (TLN2), mRNA.							68	54	59					15																	63058560		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63058560G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5135G>A	15.37:g.63058560G>A	ENSP00000453508:p.Gly1712Glu					TLN2_uc002alc.4_Missense_Mutation_p.G105E|TLN2_uc002ald.3_Missense_Mutation_p.G105E	p.G1712E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			37	5135	+			1712					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5135G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753798	0.49362	.	.	ENSG00000171914	ENST00000306829	T	0.13538	2.58	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	M	0.62723	1.935	0.80722	D	1	P;P	0.44521	0.837;0.615	P;B	0.47786	0.557;0.354	T	0.03695	-1.1012	10	0.02654	T	1	-21.9911	19.568	0.95403	0.0:0.0:1.0:0.0	.	756;1712	G1UI21;Q9Y4G6	.;TLN2_HUMAN	E	1712	ENSP00000303476:G1712E	ENSP00000303476:G1712E	G	+	2	0	TLN2	60845852	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.626000	0.88956	0.655000	0.94253	GGA		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63058560	G	A	63058560	3	1	132	1	0	0	0	0	1	0	0	0	15945	1174	41	3	5285	3	TLN2	15	63058560	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	765786	63058560	39472832	86	9090											
SH3GL3	6457	broad.mit.edu	37	chr15	84245409	84245409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtaggtaagataccagaCgaagaagtcagacaagcggt	16	5	13	7	3	1	4	1	0	0	4	1	6	1	4	1	2	2	2	1	2	6	3	rs138675150	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:84245409C>T	ENST00000427482.2	+	6	846	c.540C>T	c.(538-540)gaC>gaT	p.D180D	SH3GL3_ENST00000434347.1_Silent_p.D188D|SH3GL3_ENST00000324537.5_Silent_p.D188D|SH3GL3_ENST00000535412.1_Silent_p.D180D	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	180	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGATACCAGACGAAGAAGTCA	0.383													C|||	2	0.000399361	8e-04	0	5008	,	,		15757	0		0.001	False		,,,				2504	0					uc002bjw.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(538-540)gaC>gaT		Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.		C		6,4400	11.4+/-27.6	0,6,2197	59	62	61		540	-8.7	0.7	15	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	SH3GL3	NM_003027.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		180/348	84245409	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84245409C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.540C>T	15.37:g.84245409C>T						SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.3_Silent_p.D111D|SH3GL3_uc002bju.3_Silent_p.D188D|SH3GL3_uc002bjv.3_Non-coding_Transcript	p.D180D	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			5	735	+			180			BAR.		O43553|O43554	Silent	SNP	ENST00000427482.2	37	c.540C>T	CCDS10325.2																																																																																				0.383	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		T	84245409	C	T	84245409	2	4	132	1	0	0	0	0	0	0	0	1	14252	535	19	1		1	SH3GL3	15	84245409	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	21186849	84245409	18285983	87	9091											
CHD2	1106	broad.mit.edu	37	chr15	93563361	93563361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaaggaccaccattatGgggaccggcgacatatggat	12	7	13	9	2	0	0	0	0	0	0	0	4	0	3	3	6	1	1	3	6	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:93563361G>A	ENST00000394196.4	+	38	6094	c.5026G>A	c.(5026-5028)Ggg>Agg	p.G1676R	CHD2_ENST00000557381.1_Missense_Mutation_p.G1676R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1676					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCACCATTATGGGGACCGGCG	0.527																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5026-5028)Ggg>Agg		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.							140	106	118					15																	93563361		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93563361G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5026G>A	15.37:g.93563361G>A	ENSP00000377747:p.Gly1676Arg					CHD2_uc002bso.1_Missense_Mutation_p.G1676R	p.G1676R	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		37	5601	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1676					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5026G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474796	0.63737	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.89617	-2.54;-2.53	5.61	5.61	0.85477	.	0.000000	0.32015	U	0.006701	D	0.87763	0.6259	N	0.24115	0.695	0.80722	D	1	D;D	0.57257	0.964;0.979	P;P	0.59487	0.726;0.858	D	0.84126	0.0409	10	0.15499	T	0.54	-26.14	14.4693	0.67504	0.0:0.0:0.853:0.147	.	1676;1676	O14647;O14647-2	CHD2_HUMAN;.	R	1676	ENSP00000377747:G1676R;ENSP00000451366:G1676R	ENSP00000377747:G1676R	G	+	1	0	CHD2	91364365	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.719000	0.61937	2.641000	0.89580	0.655000	0.94253	GGG		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		A	93563361	G	A	93563361	3	1	132	1	0	0	0	0	1	0	0	0	3325	1348	47	3	5176	3	CHD2	15	93563361	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9317952	93563361	8968031	88	9092											
IL4R	3566	broad.mit.edu	37	chr16	27363945	27363945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatttcctacagggcaCgggtgagggcctgggctcag	6	8	17	10	1	1	1	1	1	0	0	2	2	2	2	2	5	1	2	2	5	1	2	rs370524692		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:27363945C>T	ENST00000395762.2	+	7	857	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IL4R_ENST00000543915.2_Missense_Mutation_p.R200W|IL4R_ENST00000380922.3_Missense_Mutation_p.R185W|IL4R_ENST00000449195.1_Missense_Mutation_p.R200W|IL4R_ENST00000170630.2_Missense_Mutation_p.R200W	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	200	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTACAGGGCACGGGTGAGGGC	0.552													C|||	1	0.000199681	0	0	5008	,	,		21078	0.001		0	False		,,,				2504	0					uc002don.3																			0		p.A199V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(598-600)Cgg>Tgg		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	117	117	117		598,598	3	0.2	16		117	0,8600		0,0,4300	no	missense,missense	IL4R	NM_000418.2,NM_001008699.1	101,101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	200/826,200/228	27363945	1,12993	2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363945C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.598C>T	16.37:g.27363945C>T	ENSP00000379111:p.Arg200Trp					IL4R_uc002dom.3_Missense_Mutation_p.R200W|IL4R_uc002dop.4_Missense_Mutation_p.R185W|IL4R_uc010bxy.3_Missense_Mutation_p.R200W|IL4R_uc002doo.3_Missense_Mutation_p.R40W	p.R200W	NM_000418	NP_000409	P24394	IL4RA_HUMAN			6	840	+			200			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.598C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521629	0.64747	2.28E-4	0.0	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	3.93	2.96	0.34315	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.477830	0.21653	N	0.071144	T	0.79964	0.4537	M	0.72118	2.19	0.19300	N	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.984;0.984;0.996	T	0.67825	-0.5570	10	0.66056	D	0.02	-26.2712	7.5541	0.27814	0.0:0.8794:0.0:0.1206	.	185;200;200;200	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	W	200;200;200;200;185;200	ENSP00000410322:R200W;ENSP00000379111:R200W;ENSP00000441667:R200W;ENSP00000370309:R185W;ENSP00000170630:R200W	ENSP00000170630:R200W	R	+	1	2	IL4R	27271446	0.000000	0.05858	0.179000	0.23059	0.366000	0.29705	-0.220000	0.09215	1.008000	0.39264	0.555000	0.69702	CGG		0.552	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27363945	C	T	27363945	3	4	132	1	0	0	0	0	1	0	0	0	7698	527	19	1	616	1	IL4R	16	27363945	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		27363945	62990808	89	9093											
PLCG2	5336	broad.mit.edu	37	chr16	81954828	81954828	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatataaactccctctacgAcgtcagcagaatgtatgtgg	13	10	9	9	2	2	2	1	0	1	2	3	3	3	2	1	1	3	2	1	1	6	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:81954828A>C	ENST00000359376.3	+	21	2475	c.2261A>C	c.(2260-2262)gAc>gCc	p.D754A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	754					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCCTCTACGACGTCAGCAGA	0.428																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2260-2262)gAc>gCc		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							104	97	99					16																	81954828		1907	4131	6038	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81954828A>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2261A>C	16.37:g.81954828A>C	ENSP00000352336:p.Asp754Ala					PLCG2_uc010chg.1_Missense_Mutation_p.D754A	p.D754A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			20	2439	+			754					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2261A>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588567	0.46110	.	.	ENSG00000197943	ENST00000359376	T	0.65732	-0.17	5.05	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.154588	0.56097	D	0.000027	T	0.48259	0.1490	L	0.41236	1.265	0.58432	D	0.999994	B;B	0.31680	0.049;0.335	B;B	0.22386	0.026;0.039	T	0.44421	-0.9329	10	0.14252	T	0.57	.	13.6553	0.62336	1.0:0.0:0.0:0.0	.	621;754	B4E3H3;P16885	.;PLCG2_HUMAN	A	754	ENSP00000352336:D754A	ENSP00000352336:D754A	D	+	2	0	PLCG2	80512329	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	6.591000	0.74090	2.020000	0.59435	0.383000	0.25322	GAC		0.428	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			C	81954828	A	C	81954828	3	2	132	1	0	0	0	0	1	0	0	0	12036	275	10	5	2339	5	PLCG2	16	81954828	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	54590883	81954828	8399925	90	9094											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	132	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		7577094	73618116	91	9095											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578214	+	Frame_Shift_Del	DEL	CGAA	CGAA	-																															agggcaccaccacactatgtCgaaaagtgtttctgtcatcc																								rs397516436|rs587778720		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7578211_7578214delCGAA	ENST00000269305.4	-	6	824_827	c.635_638delTTCG	c.(634-639)tttcgafs	p.FR212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.FR212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.FR212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.FR212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.FR212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.FR212fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R213L(38)|p.R213Q(29)|p.R81*(21)|p.R120*(21)|p.F212fs*3(12)|p.0?(8)|p.R213P(5)|p.?(5)|p.R213G(5)|p.R120L(4)|p.R81L(4)|p.R213fs*35(3)|p.R213fs*34(3)|p.R120Q(2)|p.R81Q(2)|p.F212S(2)|p.F212L(2)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.F212Y(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACACTATGTCGAAAAGTGTTTCT	0.534		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		437	Substitution - Nonsense(292)|Substitution - Missense(97)|Deletion - Frameshift(22)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.R213*(467)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(23)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.R213P(10)|p.T211T(9)|p.0?(8)|p.R213G(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.R213R(5)|p.R120L(4)|p.F212S(4)|p.R81L(4)|p.T211N(4)|p.R213fs*35(4)|p.T211fs*4(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.T211fs*5(2)|p.R81Q(2)|p.R213>L(2)|p.F212Y(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.T211A(2)|p.T211fs*28(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.T211S(1)|p.T211P(1)|p.R209fs*6(1)	large_intestine(107)|breast(48)|lung(42)|upper_aerodigestive_tract(33)|oesophagus(25)|central_nervous_system(20)|stomach(19)|prostate(18)|haematopoietic_and_lymphoid_tissue(18)|skin(17)|urinary_tract(17)|ovary(17)|liver(16)|biliary_tract(9)|endometrium(6)|soft_tissue(6)|kidney(5)|pancreas(5)|bone(4)|eye(2)|vulva(1)|autonomic_ganglia(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD011205|CM004906|CM022474|CM951226	TP53	D|M		c.(634-639)tttcgafs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211_7578214delCGAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.635_638delTTCG	17.37:g.7578211_7578214delCGAA	ENSP00000269305:p.Phe212fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	p.F212fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	829_832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.635_638delTTCG	CCDS11118.1																																																																																				0.534	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578214	CGAA	-	7578211	7	5	132	1	0	1	0	1	0	0	0	0	16378	884	31	0	656	0	TP53	17	7578211	Frame_Shift_Del	DEL	CGAA	TCGA-14-0813-01A-01W-0424-08	1117	7578211	73616999	92	9096											
CDRT1	374286	broad.mit.edu	37	chr17	15517208	15517208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtctcggtatttgctgaaCccagaagacaggtctctgat	11	11	10	9	1	2	4	0	2	2	2	4	4	2	4	1	2	2	2	1	2	4	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:15517208C>T	ENST00000395906.3	-	3	809	c.810G>A	c.(808-810)ggG>ggA	p.G270G	RP11-385D13.1_ENST00000455584.2_Silent_p.G580G	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	270										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATTTGCTGAACCCAGAAGACA	0.488																																						uc002gor.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1738-1740)ggG>ggA		Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.							16	24	22					17																	15517208		2163	4255	6418	SO:0001819	synonymous_variant	10626							g.chr17:15517208C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.810G>A	17.37:g.15517208C>T						CDRT1_uc002gov.4_Silent_p.G270G	p.G580G			O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	8	2077	-			270					O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.1740G>A	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	C	7.236	0.600259	0.13939	.	.	ENSG00000251537	ENST00000455584	.	.	.	5.34	-2.37	0.06643	.	0.000000	0.42964	D	0.000622	T	0.26593	0.0650	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.20240	-1.0281	6	0.87932	D	0	.	1.3604	0.02190	0.1322:0.2044:0.2599:0.4035	.	.	.	.	D	595	.	ENSP00000402644:G595D	G	-	2	0	RP11-385D13.1	15457933	0.001000	0.12720	0.091000	0.20842	0.938000	0.57974	-0.160000	0.10041	-0.156000	0.11079	0.484000	0.47621	GGT		0.488	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		T	15517208	C	T	15517208	2	4	132	1	0	0	0	0	0	0	0	1	3174	494	18	3		3	CDRT1	17	15517208	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	7938997	15517208	65678002	93	9097											
KPNB1	3837	broad.mit.edu	37	chr17	45734349	45734349	+	Frame_Shift_Del	DEL	A	A	-																															tcattcctcagctggtggccAatgtcacaaaccccaacagc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:45734349delA	ENST00000290158.4	+	4	813	c.406delA	c.(406-408)aatfs	p.N136fs	KPNB1_ENST00000540627.1_De_novo_Start_InFrame|KPNB1_ENST00000537679.1_De_novo_Start_InFrame|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_De_novo_Start_InFrame	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	136					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GCTGGTGGCCAATGTCACAAA	0.483																																						uc002ilt.1																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(406-408)aatfs		Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.							176	144	155					17																	45734349		2203	4300	6503	SO:0001589	frameshift_variant	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45734349delA	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.406delA	17.37:g.45734349delA	ENSP00000290158:p.Asn136fs					KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	p.N136fs	NM_002265	NP_002256	Q14974	IMB1_HUMAN			3	742	+			136					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Frame_Shift_Del	DEL	ENST00000290158.4	37	c.406delA	CCDS11513.1																																																																																				0.483	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		-	45734349	A	-	45734349	7	5	132	1	0	1	0	1	0	0	0	0	8435	130	5	0	420	0	KPNB1	17	45734349	Frame_Shift_Del	DEL	A	TCGA-14-0813-01A-01W-0424-08	30217141	45734349	35460861	94	9098											
RBBP8	5932	broad.mit.edu	37	chr18	20573449	20573449	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagattccccaggggagccCtgttcacaggaatgcatcat	12	8	10	11	0	2	1	2	0	0	1	3	3	3	3	3	3	2	2	3	3	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:20573449C>G	ENST00000399722.2	+	11	2010	c.1659C>G	c.(1657-1659)ccC>ccG	p.P553P	RBBP8_ENST00000327155.5_Silent_p.P553P|RBBP8_ENST00000399725.2_Silent_p.P553P|RBBP8_ENST00000360790.5_Silent_p.P553P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	553	Damage-recruitment motif.				blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.P553P(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGGGGAGCCCTGTTCACAGG	0.438								Homologous recombination																														uc002kua.3																			2	Substitution - coding silent(2)	p.P553P(3)	endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1657-1659)ccC>ccG	Homologous recombination	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.							43	45	44					18																	20573449		2202	4299	6501	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20573449C>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1659C>G	18.37:g.20573449C>G						RBBP8_uc002ktw.3_Silent_p.P553P|RBBP8_uc002kty.3_Silent_p.P553P|RBBP8_uc002ktz.3_Silent_p.P553P|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	p.P553P	NM_203291	NP_976036	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		10	1782	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		553					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.1659C>G	CCDS11875.1																																																																																				0.438	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		G	20573449	C	G	20573449	2	3	132	1	0	0	0	0	0	0	0	1	13105	668	24	5		5	RBBP8	18	20573449	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08		20573449	57503799	95	9099											
PSMA8	143471	broad.mit.edu	37	chr18	23738210	23738210	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttatcatgcttggaaggTgagtcatgaatttattaata	13	16	8	4	0	2	2	2	2	0	0	2	3	2	3	0	2	2	1	0	2	7	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:23738210T>A	ENST00000308268.6	+	4	584		c.e4+2		PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCTTGGAAGGTGAGTCATGAA	0.299																																						uc002kvq.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.e4+2		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.							122	127	126					18																	23738210		2203	4300	6503	SO:0001630	splice_region_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23738210T>A	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.495+2T>A	18.37:g.23738210T>A						PSMA8_uc002kvo.3_Splice_Site_p.K121_splice|PSMA8_uc002kvp.3_Splice_Site_p.K159_splice|PSMA8_uc002kvr.3_Splice_Site_p.K133_splice	p.K165_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		4	609	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		165					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Splice_Site	SNP	ENST00000308268.6	37	c.495_splice	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247232	0.39697	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	.	.	.	5.15	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8416	0.29402	0.0:0.2473:0.0:0.7527	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA8	21992208	1.000000	0.71417	0.778000	0.31720	0.738000	0.42128	4.104000	0.57790	0.122000	0.18314	-0.296000	0.09543	.		0.299	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	Intron	A	23738210	T	A	23738210	5	1	132	1	0	0	0	0	0	0	1	0	12673	1710	59	5	511	5	PSMA8	18	23738210	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08	3164761	23738210	54339038	96	9100											
SERPINB3	6317	broad.mit.edu	37	chr18	61323223	61323223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccgaggtaagtgtaaatCgacacgtgtctctctcatat	12	11	9	9	3	2	0	1	0	2	0	5	3	2	0	1	1	1	2	1	1	5	3	rs143634391		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:61323223C>T	ENST00000283752.5	-	8	984	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D229N	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	281					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACGTGTC	0.418																																						uc002lji.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(841-843)Gat>Aat		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.		C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	152	129	137		841	-6.2	0	18	dbSNP_134	137	0,8600		0,0,4300	no	missense	SERPINB3	NM_006919.2	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	281/391	61323223	3,13003	2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323223C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.841G>A	18.37:g.61323223C>T	ENSP00000283752:p.Asp281Asn					SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D229N	p.D281N	NM_006919	NP_008850	P29508	SPB3_HUMAN			7	985	-			281					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.841G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341868	0.05243	6.81E-4	0.0	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84223	-1.82;-1.82	3.07	-6.15	0.02105	Serpin domain (3);	1.297770	0.05574	N	0.571630	T	0.68915	0.3053	N	0.17345	0.48	0.09310	N	1	B;B	0.17852	0.011;0.024	B;B	0.19666	0.008;0.026	T	0.54682	-0.8257	10	0.25751	T	0.34	.	4.0631	0.09847	0.0863:0.2334:0.1713:0.509	.	229;281	P29508-2;P29508	.;SPB3_HUMAN	N	281;229	ENSP00000283752:D281N;ENSP00000329498:D229N	ENSP00000283752:D281N	D	-	1	0	SERPINB3	59474203	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-11.221000	0.00004	-3.328000	0.00186	-0.483000	0.04790	GAT		0.418	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		T	61323223	C	T	61323223	3	4	132	1	0	0	0	0	1	0	0	0	14102	884	31	2	335	2	SERPINB3	18	61323223	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	37585013	61323223	16754025	97	9101											
FARSA	2193	broad.mit.edu	37	chr19	13041262	13041262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactcggaacacccggggcCcgtcagccgcactcttgtcc	6	6	10	19	4	2	0	1	0	1	0	4	1	3	1	5	3	2	1	5	3	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:13041262C>T	ENST00000314606.4	-	3	383	c.365G>A	c.(364-366)gGg>gAg	p.G122E	FARSA_ENST00000423140.2_Missense_Mutation_p.G122E|FARSA_ENST00000588025.1_Missense_Mutation_p.G162E|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	122					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CACCCGGGGCCCGTCAGCCGC	0.637																																						uc002mvs.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(364-366)gGg>gAg		Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	L-Phenylalanine(DB00120)						87	86	86					19																	13041262		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13041262C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.365G>A	19.37:g.13041262C>T	ENSP00000320309:p.Gly122Glu					FARSA_uc010xmv.1_Missense_Mutation_p.G122E	p.G122E	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			2	413	-			122					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.365G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455579	0.43634	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.63913	-0.07;0.42	5.38	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.75447	2.3	0.80722	D	1	P;B	0.35481	0.504;0.038	B;B	0.36719	0.231;0.006	T	0.57289	-0.7837	10	0.13470	T	0.59	-55.6598	13.0815	0.59117	0.0:0.9205:0.0:0.0795	.	122;122	B4E363;Q9Y285	.;SYFA_HUMAN	E	122	ENSP00000320309:G122E;ENSP00000396548:G122E	ENSP00000320309:G122E	G	-	2	0	FARSA	12902262	1.000000	0.71417	0.974000	0.42286	0.545000	0.35147	7.063000	0.76714	1.284000	0.44531	0.462000	0.41574	GGG		0.637	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		T	13041262	C	T	13041262	3	4	132	1	0	0	0	0	1	0	0	0	5679	623	22	3	1205	3	FARSA	19	13041262	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		13041262	46087721	98	9102											
ZNF681	148213	broad.mit.edu	37	chr19	23927229	23927229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtgtgaggactgcctaaAggctttgccacattcttcac	10	11	10	10	0	2	1	1	1	1	0	2	2	2	2	2	3	2	1	2	3	3	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:23927229A>C	ENST00000402377.3	-	4	1264	c.1123T>G	c.(1123-1125)Ttt>Gtt	p.F375V	ZNF681_ENST00000395385.3_Missense_Mutation_p.F306V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GACTGCCTAAAGGCTTTGCCA	0.413																																						uc002nrk.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1123-1125)Ttt>Gtt		Homo sapiens zinc finger protein 681 (ZNF681), mRNA.							68	72	71					19																	23927229		2199	4298	6497	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927229A>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1123T>G	19.37:g.23927229A>C	ENSP00000384000:p.Phe375Val					ZNF681_uc002nrl.4_Missense_Mutation_p.F306V|ZNF681_uc002nrj.4_Missense_Mutation_p.F306V	p.F375V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			3	1265	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	375					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1123T>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	14.62	2.590313	0.46214	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.47528	0.84;0.84	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71796	0.3382	H	0.94886	3.595	0.34154	D	0.667862	D	0.89917	1.0	D	0.81914	0.995	T	0.77064	-0.2726	9	0.87932	D	0	.	6.6698	0.23062	1.0:0.0:0.0:0.0	.	375	Q96N22	ZN681_HUMAN	V	375;306	ENSP00000384000:F375V;ENSP00000378783:F306V	ENSP00000378783:F306V	F	-	1	0	ZNF681	23719069	0.976000	0.34144	0.225000	0.23894	0.039000	0.13416	4.552000	0.60747	0.663000	0.31027	0.260000	0.18958	TTT		0.413	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		C	23927229	A	C	23927229	3	2	132	1	0	0	0	0	1	0	0	0	18085	72	3	5	818	5	ZNF681	19	23927229	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	10885967	23927229	35201754	99	9103											
ZNF569	148266	broad.mit.edu	37	chr19	37905163	37905163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcatagagattgtgtcTggaagggaaaaaatcagagt	16	10	11	4	0	3	2	2	0	1	2	3	5	3	4	0	2	1	0	0	2	6	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:37905163T>C	ENST00000316950.6	-	6	954	c.397A>G	c.(397-399)Aga>Gga	p.R133G	ZNF569_ENST00000392149.2_Missense_Mutation_p.R133G|ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000592490.1_3'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTGTGTCTGGAAGGGAAA	0.323																																						uc002ogj.3																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(469-471)Aga>Gga		Homo sapiens zinc finger protein 569 (ZNF569), mRNA.							85	84	84					19																	37905163		2203	4299	6502	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905163T>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.397A>G	19.37:g.37905163T>C	ENSP00000325018:p.Arg133Gly					ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R133G	p.R157G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1401	-			133					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.469A>G	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.913312	0.00056	.	.	ENSG00000196437	ENST00000316950	T	0.07688	3.17	3.48	-0.354	0.12591	.	2.072440	0.02886	N	0.133550	T	0.06005	0.0156	L	0.32530	0.975	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.07813	T	0.8	.	3.4581	0.07523	0.1711:0.2219:0.0:0.607	.	133	Q5MCW4	ZN569_HUMAN	G	133	ENSP00000325018:R133G	ENSP00000325018:R133G	R	-	1	2	ZNF569	42597003	0.000000	0.05858	0.110000	0.21437	0.241000	0.25554	-0.968000	0.03817	0.068000	0.16574	-0.326000	0.08463	AGA		0.323	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		C	37905163	T	C	37905163	3	2	132	1	0	0	0	0	1	0	0	0	17997	1588	55	4	1667	4	ZNF569	19	37905163	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	13977934	37905163	21223820	100	9104											
PRX	57716	broad.mit.edu	37	chr19	40903183	40903183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcggggaaaactaaggCggggcatcttcagggccacc	12	5	13	11	2	2	0	1	0	1	0	3	1	2	1	2	6	1	1	2	6	4	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:40903183C>T	ENST00000324001.7	-	7	1346	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	359					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAAACTAAGGCGGGGCATCTT	0.637																																						uc002onr.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1075-1077)cGc>cAc		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.							35	39	38					19																	40903183		2202	4298	6500	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903183C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1076G>A	19.37:g.40903183C>T	ENSP00000326018:p.Arg359His					PRX_uc002onq.3_Missense_Mutation_p.R220H|PRX_uc002ons.3_3'UTR	p.R359H	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	1345	-			359					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1076G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373544	0.24857	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01133	5.29	4.56	4.56	0.56223	.	0.301034	0.29940	N	0.010801	T	0.01661	0.0053	L	0.48642	1.525	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.57004	-0.7885	10	0.46703	T	0.11	-8.242	12.7032	0.57045	0.0:0.8327:0.1673:0.0	.	359	Q9BXM0	PRAX_HUMAN	H	359	ENSP00000326018:R359H	ENSP00000326018:R359H	R	-	2	0	PRX	45595023	0.001000	0.12720	0.995000	0.50966	0.825000	0.46686	-0.296000	0.08287	2.359000	0.80004	0.561000	0.74099	CGC		0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40903183	C	T	40903183	3	4	132	1	0	0	0	0	1	0	0	0	12642	768	27	1	3313	1	PRX	19	40903183	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	2998020	40903183	18225800	101	9105											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggtgagcactgaggagCgggcagtagtggggcccggg	8	5	21	7	2	0	2	0	2	0	0	0	3	0	3	1	6	2	3	1	6	2	2	rs200891335		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:51960834C>T	ENST00000321424.3	-	2	680	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	205	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652													C|||	1	0.000199681	0	0.0014	5008	,	,		17273	0		0	False		,,,				2504	0					uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(613-615)cGc>cAc		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.		C	HIS/ARG	2,4404		0,2,2201	50	50	50		614	-5.4	0	19		50	0,8600		0,0,4300	no	missense	SIGLEC8	NM_014442.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	205/500	51960834	2,13004	2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960834C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.614G>A	19.37:g.51960834C>T	ENSP00000321077:p.Arg205His					SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	p.R205H	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	681	-		all_neural(266;0.0199)	205			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.614G>A	CCDS33086.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	0.085	-1.177021	0.01646	4.54E-4	0.0	ENSG00000105366	ENST00000321424	T	0.21932	1.98	2.69	-5.38	0.02673	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.843930	0.03177	N	0.171557	T	0.08582	0.0213	N	0.16166	0.38	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.23190	-1.0195	10	0.12103	T	0.63	.	0.1809	0.00123	0.2937:0.1967:0.149:0.3607	.	205	Q9NYZ4	SIGL8_HUMAN	H	205	ENSP00000321077:R205H	ENSP00000321077:R205H	R	-	2	0	SIGLEC8	56652646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.339000	0.00506	-1.836000	0.01190	-0.442000	0.05670	CGC		0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		T	51960834	C	T	51960834	3	4	132	1	0	0	0	0	1	0	0	0	14314	768	27	1	909	1	SIGLEC8	19	51960834	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	11057651	51960834	7168149	102	9106											
NLRP7	199713	broad.mit.edu	37	chr19	55451643	55451643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgtggttttccccaCgcctgcggggccgtgcagca	4	7	15	15	4	0	0	0	0	0	0	1	0	1	0	5	4	4	3	5	4	0	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:55451643C>T	ENST00000590030.1	-	3	584	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	NLRP7_ENST00000446217.1_Missense_Mutation_p.V210M|NLRP7_ENST00000592784.1_Missense_Mutation_p.V182M|NLRP7_ENST00000328092.5_Missense_Mutation_p.V182M|NLRP7_ENST00000588756.1_Missense_Mutation_p.V182M|NLRP7_ENST00000448121.2_Missense_Mutation_p.V182M|NLRP7_ENST00000340844.2_Missense_Mutation_p.V182M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	182	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.V182M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTTTCCCCACGCCTGCGGGG	0.562																																						uc002qih.4																			1	Substitution - Missense(1)	p.V182M(2)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(544-546)Gtg>Atg		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							118	121	120					19																	55451643		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451643C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.544G>A	19.37:g.55451643C>T	ENSP00000465520:p.Val182Met					NLRP7_uc010esk.3_Missense_Mutation_p.V182M|NLRP7_uc002qig.4_Missense_Mutation_p.V182M|NLRP7_uc002qii.4_Missense_Mutation_p.V182M|NLRP7_uc010esl.3_Missense_Mutation_p.V210M	p.V182M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	620	-			182			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.544G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888316	0.33348	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	1.87	0.803	0.18691	NACHT nucleoside triphosphatase (1);	1.452680	0.05222	N	0.508734	T	0.80308	0.4599	L	0.28694	0.88	0.09310	N	0.999996	D;D;D;D	0.56968	0.978;0.978;0.978;0.973	P;P;P;P	0.51385	0.668;0.668;0.668;0.538	T	0.68209	-0.5469	10	0.72032	D	0.01	.	6.5523	0.22442	0.0:0.8346:0.0:0.1654	.	210;182;182;182	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	M	182;182;182;210	ENSP00000329568:V182M;ENSP00000409137:V182M;ENSP00000339491:V182M;ENSP00000414273:V210M	ENSP00000329568:V182M	V	-	1	0	NLRP7	60143455	0.001000	0.12720	0.008000	0.14137	0.074000	0.17049	-0.006000	0.12833	0.350000	0.24002	0.455000	0.32223	GTG		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55451643	C	T	55451643	3	4	132	1	0	0	0	0	1	0	0	0	10482	536	19	1	2601	1	NLRP7	19	55451643	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	3490809	55451643	3677340	103	9107											
USP29	57663	broad.mit.edu	37	chr19	57641754	57641754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctctcaggagatgattTctgagatcaacagcccattg	12	11	9	9	0	4	3	2	2	2	2	5	5	4	3	1	1	2	0	1	1	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:57641754T>A	ENST00000254181.4	+	4	2165	c.1711T>A	c.(1711-1713)Tct>Act	p.S571T	USP29_ENST00000598197.1_Missense_Mutation_p.S571T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	571	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGATGATTTCTGAGATCAA	0.468																																						uc002qny.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1711-1713)Tct>Act		Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.							91	95	94					19																	57641754		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641754T>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1711T>A	19.37:g.57641754T>A	ENSP00000254181:p.Ser571Thr					USP29_uc021vci.1_Missense_Mutation_p.S571T	p.S571T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	2067	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	571						Missense_Mutation	SNP	ENST00000254181.4	37	c.1711T>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042727	0.36085	.	.	ENSG00000131864	ENST00000254181	T	0.58797	0.31	2.52	1.49	0.22878	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.279622	0.19432	U	0.114417	T	0.61299	0.2336	L	0.58810	1.83	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.48864	-0.8997	10	0.37606	T	0.19	-7.1697	3.7137	0.08430	0.0:0.1973:0.0:0.8027	.	571	Q9HBJ7	UBP29_HUMAN	T	571	ENSP00000254181:S571T	ENSP00000254181:S571T	S	+	1	0	USP29	62333566	0.005000	0.15991	0.031000	0.17742	0.008000	0.06430	0.024000	0.13555	0.391000	0.25143	0.383000	0.25322	TCT		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57641754	T	A	57641754	3	1	132	1	0	0	0	0	1	0	0	0	17056	1783	62	5	1713	5	USP29	19	57641754	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	2190111	57641754	1487229	104	9108											
SIRPB1	10326	broad.mit.edu	37	chr20	1600544	1600544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcagtagcgtcatcAgcaggaaaggactaggaagg	13	5	13	10	1	2	0	2	0	0	0	3	3	3	3	2	4	3	3	2	4	4	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:1600544A>G	ENST00000381605.4	-	1	111	c.47T>C	c.(46-48)cTg>cCg	p.L16P	SIRPB1_ENST00000381603.3_Missense_Mutation_p.L16P|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Missense_Mutation_p.L16P|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.L16P|SIRPB1_ENST00000568365.1_Missense_Mutation_p.L16P	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	16					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCGTCATCAGCAGGAAAGG	0.572																																						uc010gai.3																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(46-48)cTg>cCg		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							98	86	90					20																	1600544		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600544A>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.47T>C	20.37:g.1600544A>G	ENSP00000371018:p.Leu16Pro					SIRPB1_uc002wfk.4_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.4_Missense_Mutation_p.L16P	p.L16P	NM_006065	NP_006056	O00241	SIRB1_HUMAN			0	146	-			16					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.47T>C	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.959068	0.34565	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.16597	3.89;4.21;2.33	1.85	1.85	0.25348	Immunoglobulin-like (2);	0.463335	0.15726	U	0.247655	T	0.36276	0.0961	M	0.77103	2.36	0.26431	N	0.975947	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.961;0.972;0.992	T	0.05053	-1.0909	10	0.72032	D	0.01	.	5.7258	0.18013	1.0:0.0:0.0:0.0	.	16;16;16	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	P	16	ENSP00000371018:L16P;ENSP00000371016:L16P;ENSP00000279477:L16P	ENSP00000279477:L16P	L	-	2	0	SIRPB1	1548544	0.997000	0.39634	0.302000	0.25058	0.048000	0.14542	1.376000	0.34306	1.107000	0.41642	0.338000	0.21704	CTG		0.572	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		G	1600544	A	G	1600544	3	3	132	1	0	0	0	0	1	0	0	0	14333	188	7	4	2306	4	SIRPB1	20	1600544	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08		1600544	61424976	105	9109											
NINL	22981	broad.mit.edu	37	chr20	25457045	25457045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgaagcggccggcctcaggGgtggctcccacatccgtggc	6	5	15	15	4	1	0	1	0	0	0	3	1	3	0	4	6	1	1	4	6	1	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:25457045G>A	ENST00000278886.6	-	17	2955	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	961					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGCCTCAGGGGTGGCTCCCA	0.692																																						uc002wux.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2881-2883)cCc>cTc		Homo sapiens ninein-like (NINL), mRNA.							16	18	18					20																	25457045		2135	4198	6333	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457045G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2882C>T	20.37:g.25457045G>A	ENSP00000278886:p.Pro961Leu					NINL_uc010gdn.1_Intron	p.P961L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			16	2956	-			961					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2882C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770321	0.00645	.	.	ENSG00000101004	ENST00000278886	T	0.23950	1.88	3.26	-6.51	0.01878	.	5.007210	0.01005	N	0.003743	T	0.11410	0.0278	N	0.19112	0.55	0.09310	N	1	B	0.27625	0.183	B	0.14578	0.011	T	0.26018	-1.0115	10	0.07990	T	0.79	10.7608	3.6547	0.08217	0.0843:0.2847:0.1284:0.5026	.	961	Q9Y2I6	NINL_HUMAN	L	961	ENSP00000278886:P961L	ENSP00000278886:P961L	P	-	2	0	NINL	25405045	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.359000	0.01085	-3.776000	0.00108	-1.210000	0.01631	CCC		0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		A	25457045	G	A	25457045	3	1	132	1	0	0	0	0	1	0	0	0	10420	1232	43	3	1298	3	NINL	20	25457045	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	23856501	25457045	37568475	106	9110											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547256	37547256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccactcttaaagttcaagGcccccatagaggagatggag	12	7	10	12	0	2	2	1	0	1	2	2	4	2	3	4	3	0	1	4	3	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:37547256G>A	ENST00000299824.1	+	11	1840	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGTTCAAGGCCCCCATAGA	0.577																																						uc002xje.3																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1651-1653)Gcc>Acc		Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.							54	52	53					20																	37547256		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547256G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1651G>A	20.37:g.37547256G>A	ENSP00000299824:p.Ala551Thr					PPP1R16B_uc010ggc.3_Missense_Mutation_p.A509T	p.A551T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			10	1840	+		Myeloproliferative disorder(115;0.00878)	551					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1651G>A	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664101	0.67700	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.77098	-0.79;-1.07	5.35	5.35	0.76521	.	0.188207	0.48767	D	0.000177	D	0.84397	0.5463	M	0.61703	1.905	0.32897	D	0.512592	D;D	0.69078	0.997;0.994	P;P	0.58210	0.835;0.835	D	0.88548	0.3114	10	0.66056	D	0.02	.	17.2316	0.86985	0.0:0.0:1.0:0.0	.	509;551	E9PFS8;Q96T49	.;PP16B_HUMAN	T	551;509	ENSP00000299824:A551T;ENSP00000362428:A509T	ENSP00000299824:A551T	A	+	1	0	PPP1R16B	36980670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.961000	0.63681	2.498000	0.84270	0.655000	0.94253	GCC		0.577	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		A	37547256	G	A	37547256	3	1	132	1	0	0	0	0	1	0	0	0	12366	1203	42	3	1689	3	PPP1R16B	20	37547256	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	12090211	37547256	25478264	107	9111											
BMP7	655	broad.mit.edu	37	chr20	55777537	55777537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggggactcaccatccaGcgtctccaccgagagctgca	8	5	12	16	3	2	1	1	0	1	1	4	3	3	2	5	2	3	2	5	2	0	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:55777537G>A	ENST00000395863.3	-	3	1259	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.L252L|BMP7_ENST00000395864.3_Silent_p.L252L	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	252					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCACCATCCAGCGTCTCCACC	0.607																																						uc010gip.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(754-756)Ctg>Ttg		Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.							39	35	36					20																	55777537		2203	4300	6503	SO:0001819	synonymous_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55777537G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.754C>T	20.37:g.55777537G>A						BMP7_uc002xyc.3_Silent_p.L252L	p.L252L	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		2	1283	-	all_lung(29;0.0133)|Melanoma(10;0.242)		252					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.754C>T	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010677	0.19277	.	.	ENSG00000101144	ENST00000433911	.	.	.	4.78	1.12	0.20585	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.48571	D	0.999671	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	5.0333	0.14421	0.1513:0.0:0.5417:0.307	.	.	.	.	V	173	.	.	A	-	2	0	BMP7	55210944	0.251000	0.23961	0.717000	0.30585	0.940000	0.58332	0.539000	0.23175	0.389000	0.25086	0.561000	0.74099	GCT		0.607	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			A	55777537	G	A	55777537	2	1	132	1	0	0	0	0	0	0	0	1	1465	962	34	3		3	BMP7	20	55777537	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	18230281	55777537	7247983	108	9112											
CACNG2	10369	broad.mit.edu	37	chr22	36983511	36983511	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatcgtgtgcactcaCggaggaaatattctgctgtg	13	10	10	8	2	2	0	1	0	1	0	3	2	2	2	0	2	3	2	0	2	5	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:36983511C>T	ENST00000300105.6	-	2	1277		c.e2+1		CACNG2_ENST00000480002.1_5'Flank	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2						membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCACTCACGGAGGAAATA	0.507																																						uc003aps.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.e2+1		Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.							215	172	186					22																	36983511		2203	4300	6503	SO:0001630	splice_region_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36983511C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.295+1G>A	22.37:g.36983511C>T							p.R99_splice	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			2	364	-			99					Q2M1M1|Q5TGT3|Q9UGZ7	Splice_Site	SNP	ENST00000300105.6	37	c.295_splice	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391031	0.62066	.	.	ENSG00000166862	ENST00000300105	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1253	0.81392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNG2	35313457	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	6.954000	0.76001	2.153000	0.67306	0.561000	0.74099	.		0.507	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		Intron	T	36983511	C	T	36983511	5	4	132	1	0	0	0	0	0	0	1	0	2557	550	19	1	687	1	CACNG2	22	36983511	Splice_Site	SNP	C	TCGA-14-0813-01A-01W-0424-08		36983511	14321055	109	9113											
COL4A5	1287	broad.mit.edu	37	chrX	107827754	107827754	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacctggacctcctggacTtgtaagttttttttttttag	6	18	7	10	0	0	0	0	0	0	0	1	2	1	2	4	2	0	2	4	2	2	8			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:107827754T>C	ENST00000361603.2	+	18	1275	c.1031T>C	c.(1030-1032)cTt>cCt	p.L344P	COL4A5_ENST00000328300.6_Splice_Site_p.L344P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	344	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGACTTGTAAGTTTT	0.343									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.e18+1		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							56	57	57					X																	107827754		2203	4300	6503	SO:0001630	splice_region_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107827754T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1032+1T>C	X.37:g.107827754T>C						COL4A5_uc004enz.1_Splice_Site_p.L344_splice|COL4A5_uc004eob.1_Splice_Site	p.L344_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN			18	1234	+			344			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1032_splice	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150638	0.21371	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.91124	-2.79;-2.61	4.92	3.73	0.42828	.	0.952842	0.08774	N	0.895825	D	0.82545	0.5060	N	0.12961	0.28	0.49915	D	0.999836	P;P	0.36789	0.57;0.57	B;B	0.38296	0.27;0.27	T	0.71994	-0.4424	10	0.34782	T	0.22	.	7.0454	0.25042	0.1382:0.0:0.2814:0.5804	.	344;344	E7EVY4;P29400	.;CO4A5_HUMAN	P	344	ENSP00000331902:L344P;ENSP00000354505:L344P	ENSP00000331902:L344P	L	+	2	0	COL4A5	107714410	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	1.160000	0.31761	0.761000	0.33130	0.486000	0.48141	CTT		0.343	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		Missense_Mutation	C	107827754	T	C	107827754	5	2	132	1	0	0	0	0	0	0	1	0	3694	1623	56	4	1101	4	COL4A5	23	107827754	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08		107827754	47442806	110	9114											
AFF2	2334	broad.mit.edu	37	chrX	147743983	147743983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagaatctgaattcgcCgtgcaagcgcctgggtctcc	8	8	12	13	4	2	2	0	1	2	1	4	3	2	3	4	2	2	1	4	2	4	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:147743983C>T	ENST00000370460.2	+	3	1214	c.735C>T	c.(733-735)gcC>gcT	p.A245A	AFF2_ENST00000370457.5_Silent_p.A241A|AFF2_ENST00000342251.3_Silent_p.A241A|AFF2_ENST00000370458.1_Silent_p.A241A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	245					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAATTCGCCGTGCAAGCGC	0.458																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(733-735)gcC>gcT		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							125	134	131					X																	147743983		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743983C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.735C>T	X.37:g.147743983C>T						AFF2_uc004fco.3_Silent_p.A241A|AFF2_uc004fcq.3_Silent_p.A241A|AFF2_uc004fcr.3_Silent_p.A241A|AFF2_uc011mxb.2_Silent_p.A245A|AFF2_uc004fcs.3_Silent_p.A241A	p.A245A	NM_002025	NP_002016	P51816	AFF2_HUMAN			2	1214	+	Acute lymphoblastic leukemia(192;6.56e-05)		245					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.735C>T	CCDS14684.1																																																																																				0.458	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	147743983	C	T	147743983	2	4	132	1	0	0	0	0	0	0	0	1	357	639	23	2		2	AFF2	23	147743983	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	39916229	147743983	7526577	111	9115											
MAGEA12	4111	broad.mit.edu	37	chrX	151900520	151900520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcaggaaaggtgcttggcCcttcctgttcttcgttgctg	4	14	13	10	1	2	0	1	0	1	0	4	1	3	1	2	4	2	4	2	4	1	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:151900520C>A	ENST00000357916.4	-	2	436	c.281G>T	c.(280-282)gGg>gTg	p.G94V	MAGEA12_ENST00000393900.3_Missense_Mutation_p.G94V|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.G94V|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	94										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCTTCCTGTTC	0.547																																						uc022chj.1																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(280-282)gGg>gTg		Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.							139	116	124					X																	151900520		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900520C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.281G>T	X.37:g.151900520C>A	ENSP00000350592:p.Gly94Val					MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G94V|MAGEA12_uc022chi.1_Missense_Mutation_p.G94V|MAGEA12_uc004fgc.3_Missense_Mutation_p.G94V|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	p.G94V	NM_005367	NP_005358	P43365	MAGAC_HUMAN			0	281	-	Acute lymphoblastic leukemia(192;6.56e-05)		94					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.281G>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364470	0.24684	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04706	3.57;3.57;3.57	0.898	0.898	0.19264	Melanoma associated antigen, MAGE, N-terminal (1);	0.987708	0.08280	N	0.970047	T	0.22322	0.0538	M	0.87547	2.89	0.19575	N	0.999966	D	0.89917	1.0	D	0.81914	0.995	T	0.06607	-1.0817	9	0.49607	T	0.09	.	.	.	.	.	94	P43365	MAGAC_HUMAN	V	94	ENSP00000350592:G94V;ENSP00000377447:G94V;ENSP00000377478:G94V	ENSP00000350592:G94V	G	-	2	0	MAGEA12	151651176	0.000000	0.05858	0.004000	0.12327	0.057000	0.15508	-0.501000	0.06398	0.697000	0.31718	0.179000	0.17066	GGG		0.547	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		A	151900520	C	A	151900520	3	1	132	1	0	0	0	0	1	0	0	0	9166	623	22	5	667	5	MAGEA12	23	151900520	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	4156537	151900520	3370040	112	9116											
ARHGAP4	393	broad.mit.edu	37	chrX	153184317	153184317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgggggtggtagtcaaagCgcagcgggggacagaagacg	11	4	19	7	3	1	2	1	0	0	2	1	3	1	3	0	5	2	2	0	5	3	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:153184317C>T	ENST00000350060.5	-	7	1042	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R374H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R311H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R313H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	334					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTCAAAGCGCAGCGGGGG	0.617																																						uc004fjk.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1000-1002)cGc>cAc		Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.							94	93	93					X																	153184317		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184317C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1001G>A	X.37:g.153184317C>T	ENSP00000203786:p.Arg334His					ARHGAP4_uc011mzf.2_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.2_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.2_Non-coding_Transcript	p.R334H	NM_001666	NP_001657	P98171	RHG04_HUMAN			6	1059	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		334					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1001G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829727	0.71258	.	.	ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;2.54	4.89	4.89	0.63831	.	0.000000	0.42821	D	0.000644	T	0.57961	0.2089	M	0.69358	2.11	0.50632	D	0.999883	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.56517	-0.7966	10	0.35671	T	0.21	.	9.999	0.41918	0.0:0.9013:0.0:0.0987	.	374;334	Q86UY3;P98171	.;RHG04_HUMAN	H	374;334;313;311;109	ENSP00000359045:R374H;ENSP00000203786:R334H;ENSP00000359033:R313H;ENSP00000444169:R311H;ENSP00000398019:R109H	ENSP00000203786:R334H	R	-	2	0	ARHGAP4	152837511	0.159000	0.22864	0.850000	0.33497	0.428000	0.31595	1.459000	0.35234	2.155000	0.67459	0.525000	0.51046	CGC		0.617	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		T	153184317	C	T	153184317	3	4	132	1	0	0	0	0	1	0	0	0	885	768	27	1	1903	1	ARHGAP4	23	153184317	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	1283797	153184317	2086243	113	9117											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395016	3395016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacatggtccaggactacGcccagatgaaccacatccag	12	6	9	14	1	0	2	0	1	0	1	2	3	2	3	4	2	3	1	4	2	3	2	rs201826500	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:3395016G>A	ENST00000378378.4	+	12	2059	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A256T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A264T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A264T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	552	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAGGACTACGCCCAGATGAA	0.657													G|||	5	0.000998403	0.0038	0	5008	,	,		17737	0		0	False		,,,				2504	0					uc001akg.4																			0				lung(6)|ovary(1)	7						c.(1654-1656)Gcc>Acc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.		G	THR/ALA	2,4394	2.1+/-5.4	0,2,2196	94	86	89		1654	5.7	0.7	1		89	0,8582		0,0,4291	yes	missense	ARHGEF16	NM_014448.3	58	0,2,6487	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	552/710	3395016	2,12976	2198	4291	6489	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3395016G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1654G>A	1.37:g.3395016G>A	ENSP00000367629:p.Ala552Thr					ARHGEF16_uc001aki.3_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A256T	p.A552T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1902	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	552			PH.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1654G>A	CCDS46.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.9	4.071151	0.76301	4.55E-4	0.0	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.057684	0.64402	D	0.000002	D	0.85733	0.5765	M	0.87547	2.89	0.80722	D	1	D;D	0.57257	0.977;0.979	P;P	0.55713	0.782;0.727	D	0.87633	0.2517	10	0.62326	D	0.03	-28.8918	18.0065	0.89211	0.0:0.0:1.0:0.0	.	256;552	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	552;264;264;256	ENSP00000367629:A552T;ENSP00000367624:A264T;ENSP00000367622:A264T;ENSP00000408887:A256T	ENSP00000367622:A264T	A	+	1	0	ARHGEF16	3384876	1.000000	0.71417	0.743000	0.31040	0.520000	0.34377	5.337000	0.65941	2.694000	0.91930	0.561000	0.74099	GCC		0.657	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3395016	G	A	3395016	3	1	133	1	0	0	0	0	1	0	0	0	899	1087	38	1	1696	1	ARHGEF16	1	3395016	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		3395016	245855605	1	9118											
HCRTR1	3061	broad.mit.edu	37	chr1	32084903	32084903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccgctatctgtggcGcgattatctgtacccaaaac	8	13	8	12	3	3	0	0	0	3	0	4	1	3	0	2	1	2	3	2	1	5	4	rs200094994		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:32084903G>A	ENST00000373706.5	+	1	263	c.110G>A	c.(109-111)cGc>cAc	p.R37H	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Missense_Mutation_p.R37H|HCRTR1_ENST00000373705.1_Missense_Mutation_p.R37H			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	37					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TATCTGTGGCGCGATTATCTG	0.607																																						uc009vtx.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(109-111)cGc>cAc		Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.							149	151	150					1																	32084903		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084903G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.110G>A	1.37:g.32084903G>A	ENSP00000362810:p.Arg37His					HCRTR1_uc001btc.4_Missense_Mutation_p.A11T|HCRTR1_uc001btd.2_Missense_Mutation_p.R37H|HCRTR1_uc010ogl.2_Missense_Mutation_p.R37H	p.R37H	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	2	495	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	37					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.110G>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412097	0.42817	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.60797	0.16;0.16;0.4	3.91	2.99	0.34606	.	0.070601	0.52532	D	0.000080	T	0.46190	0.1380	L	0.43923	1.385	0.34593	D	0.71569	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.52200	-0.8607	10	0.33940	T	0.23	.	10.1337	0.42693	0.1043:0.0:0.8957:0.0	.	37;37	A6NMV7;O43613	.;OX1R_HUMAN	H	37	ENSP00000384387:R37H;ENSP00000362810:R37H;ENSP00000362809:R37H	ENSP00000362809:R37H	R	+	2	0	HCRTR1	31857490	0.917000	0.31117	0.988000	0.46212	0.961000	0.63080	1.206000	0.32321	0.924000	0.37069	-0.137000	0.14449	CGC		0.607	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		A	32084903	G	A	32084903	3	1	133	1	0	0	0	0	1	0	0	0	7001	1087	38	1	112	1	HCRTR1	1	32084903	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	28689887	32084903	217165718	2	9119											
KANK4	163782	broad.mit.edu	37	chr1	62740564	62740564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaggaaggctgaagtttCggggcagagtgctaaatttg	10	11	15	5	1	1	2	1	1	0	1	2	3	1	3	0	4	1	4	0	4	4	3	rs376267940		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:62740564C>T	ENST00000371153.4	-	3	590	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	71						cytoplasm (GO:0005737)		p.R71Q(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGAAGTTTCGGGGCAGAGT	0.557																																						uc001dah.4																			3	Substitution - Missense(3)	p.R71Q(6)|p.R71R(1)	skin(2)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(211-213)cGa>cAa		Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.		C	GLN/ARG	0,4406		0,0,2203	129	136	133		212	5.1	1	1		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	71/996	62740564	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62740564C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.212G>A	1.37:g.62740564C>T	ENSP00000360195:p.Arg71Gln					KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	p.R71Q	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			2	589	-			71					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.212G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592925	0.96602	0.0	1.16E-4	ENSG00000132854	ENST00000371153	T	0.68331	-0.32	5.13	5.13	0.70059	.	0.000000	0.31519	N	0.007520	T	0.80969	0.4726	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80415	-0.1392	10	0.46703	T	0.11	-11.0029	18.7902	0.91971	0.0:1.0:0.0:0.0	.	71	Q5T7N3	KANK4_HUMAN	Q	71	ENSP00000360195:R71Q	ENSP00000360195:R71Q	R	-	2	0	KANK4	62513152	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	6.860000	0.75473	2.665000	0.90641	0.563000	0.77884	CGA		0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62740564	C	T	62740564	3	4	133	1	0	0	0	0	1	0	0	0	7979	884	31	2	2807	2	KANK4	1	62740564	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	30655661	62740564	186510057	3	9120											
TGFBR3	7049	broad.mit.edu	37	chr1	92224221	92224221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtcttcagatgccaCaccagggggtgtggggagtt	6	11	14	10	0	3	1	1	0	2	1	4	2	3	2	2	4	1	1	2	4	0	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:92224221C>T	ENST00000525962.1	-	3	394	c.333G>A	c.(331-333)gtG>gtA	p.V111V	TGFBR3_ENST00000370399.2_Silent_p.V111V|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.V111V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	111					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAGATGCCACACCAGGGGGT	0.507																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(331-333)gtG>gtA		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							135	130	131					1																	92224221		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92224221C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.333G>A	1.37:g.92224221C>T						TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.V69V|TGFBR3_uc001doi.3_Silent_p.V111V|TGFBR3_uc001doj.3_Silent_p.V111V	p.V111V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	3	848	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	111					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.333G>A	CCDS30770.1																																																																																				0.507	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92224221	C	T	92224221	2	4	133	1	0	0	0	0	0	0	0	1	15820	465	17	3		3	TGFBR3	1	92224221	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	29483657	92224221	157026400	4	9121											
PSRC1	84722	broad.mit.edu	37	chr1	109823399	109823399	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcctcctgacctcttacCcttgtgtccactttcccgca	4	15	4	18	1	2	1	0	1	2	0	6	1	6	1	6	0	1	1	6	0	1	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:109823399C>T	ENST00000438534.2	-	5	1132	c.994G>A	c.(994-996)Gtt>Att	p.V332I	PSRC1_ENST00000369904.3_Splice_Site_p.G268D|PSRC1_ENST00000369903.2_Splice_Site_p.V302I|PSRC1_ENST00000369909.2_Splice_Site_p.V302I|PSRC1_ENST00000369907.3_Splice_Site_p.V302I|PSRC1_ENST00000409267.1_Splice_Site_p.V302I|PSRC1_ENST00000409138.2_Splice_Site_p.V332I	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	332	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GACCTCTTACCCTTGTGTCCA	0.552																																						uc001dxj.3																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.e5+1		Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.							46	45	46					1																	109823399		2203	4300	6503	SO:0001630	splice_region_variant	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109823399C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.994+1G>A	1.37:g.109823399C>T						PSRC1_uc001dxb.3_Splice_Site_p.V132_splice|PSRC1_uc001dxc.3_Splice_Site_p.V302_splice|PSRC1_uc001dxd.3_Splice_Site_p.V302_splice|PSRC1_uc001dxf.3_Splice_Site_p.G268_splice	p.V332_splice	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	1140	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	332			Pro/Ser-rich.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.994_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.32|12.32	1.904091|1.904091	0.33628|0.33628	.|.	.|.	ENSG00000134222|ENSG00000134222	ENST00000369904|ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903	.|T;T;T;T;T	.|0.50277	.|0.77;0.77;0.75;0.77;0.77	4.6|4.6	0.621|0.621	0.17643|0.17643	.|.	.|0.565405	.|0.15793	.|N	.|0.244362	T|T	0.09379|0.09379	0.0231|0.0231	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B;B	0.10296|0.11235	0.003|0.003;0.003;0.004	B|B;B;B	0.12156|0.09377	0.007|0.004;0.002;0.004	T|T	0.31223|0.31223	-0.9951|-0.9951	6|8	.|.	.|.	.|.	9.865|9.865	3.6559|3.6559	0.08221|0.08221	0.1721:0.5496:0.0:0.2783|0.1721:0.5496:0.0:0.2783	.|.	268|332;302;302	Q6PGN9-3|Q6PGN9;Q6PGN9-2;A8K0M8	.|PSRC1_HUMAN;.;.	D|I	268|302;302;332;302;302	.|ENSP00000386323:V302I;ENSP00000358923:V302I;ENSP00000413591:V332I;ENSP00000358925:V302I;ENSP00000358919:V302I	.|.	G|V	-|-	2|1	0|0	PSRC1|PSRC1	109624922|109624922	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	-0.282000|-0.282000	0.08445|0.08445	0.128000|0.128000	0.18479|0.18479	0.655000|0.655000	0.94253|0.94253	GGT|GTT		0.552	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636	Missense_Mutation	T	109823399	C	T	109823399	5	4	133	1	0	0	0	0	0	0	1	0	12719	637	22	3	141	3	PSRC1	1	109823399	Splice_Site	SNP	C	TCGA-14-0817-01A-01W-0424-08	17599178	109823399	139427222	5	9122											
SYT6	148281	broad.mit.edu	37	chr1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcagccgggtgtgaCgcatgatgtgctccttgacc	5	9	14	13	3	0	3	0	3	0	0	1	3	1	3	4	1	3	4	4	1	0	1	rs138691067		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:114682285C>T	ENST00000610222.1	-	2	610	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000609117.1_Missense_Mutation_p.R70H|SYT6_ENST00000369547.1_Missense_Mutation_p.R70H|SYT6_ENST00000393296.1_Missense_Mutation_p.R155H|SYT6_ENST00000607941.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622																																						uc021osa.1																			1	Substitution - Missense(1)	p.R70H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(463-465)cGt>cAt		Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.		C	HIS/ARG	0,4406		0,0,2203	101	80	87		209	5.5	1	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	70/426	114682285	1,13005	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114682285C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.464G>A	1.37:g.114682285C>T	ENSP00000476396:p.Arg155His					SYT6_uc021orz.1_Missense_Mutation_p.R70H|SYT6_uc001eev.3_Missense_Mutation_p.R70H	p.R155H	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	542	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	155					B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.464G>A		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101911	0.56183	0.0	1.16E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;1.47;0.9	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.31207	0.915	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.17349	-1.0372	10	0.17832	T	0.49	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	155	Q5T7P8	SYT6_HUMAN	H	70;155;70;155;70;70	ENSP00000358560:R70H;ENSP00000376974:R155H;ENSP00000358559:R70H;ENSP00000358558:R155H;ENSP00000412443:R70H;ENSP00000389266:R70H	ENSP00000358558:R155H	R	-	2	0	SYT6	114483808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.071000	0.57556	2.583000	0.87209	0.655000	0.94253	CGT		0.622	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		T	114682285	C	T	114682285	3	4	133	1	0	0	0	0	1	0	0	0	15475	536	19	1	1092	1	SYT6	1	114682285	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	4858886	114682285	134568336	6	9123											
FLG	2312	broad.mit.edu	37	chr1	152282266	152282266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagatgaatcttgtctgCgcccagtgcctgagtctgtg	7	12	11	11	1	3	3	0	2	3	1	3	3	3	3	2	0	3	0	2	0	2	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:152282266C>T	ENST00000368799.1	-	3	5131	c.5096G>A	c.(5095-5097)cGc>cAc	p.R1699H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTTGTCTGCGCCCAGTGCC	0.572									Ichthyosis																													uc001ezu.1																			0		p.G1698W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5095-5097)cGc>cAc		Homo sapiens filaggrin (FLG), mRNA.							253	256	255					1																	152282266		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282266C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5096G>A	1.37:g.152282266C>T	ENSP00000357789:p.Arg1699His						p.R1699H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5132	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1699		R -> C (in dbSNP:rs12405278).	Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5096G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.271	0.235356	0.10023	.	.	ENSG00000143631	ENST00000368799	T	0.03951	3.75	2.69	-1.42	0.08913	.	.	.	.	.	T	0.00875	0.0029	N	0.17082	0.46	0.09310	N	1	B	0.24882	0.113	B	0.15484	0.013	T	0.45920	-0.9228	9	0.44086	T	0.13	.	5.9351	0.19161	0.0:0.485:0.0:0.515	.	1699	P20930	FILA_HUMAN	H	1699	ENSP00000357789:R1699H	ENSP00000357789:R1699H	R	-	2	0	FLG	150548890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.335000	0.07873	-0.429000	0.07329	0.306000	0.20318	CGC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152282266	C	T	152282266	3	4	133	1	0	0	0	0	1	0	0	0	5922	768	27	1	7093	1	FLG	1	152282266	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	37599981	152282266	96968355	7	9124											
PKLR	5313	broad.mit.edu	37	chr1	155264433	155264433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcgcaggtctcggaCgtcctgctcggacagcccgg	6	5	14	16	6	1	0	0	0	1	0	4	3	2	2	3	4	3	2	3	4	1	0	rs200695047	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:155264433C>T	ENST00000342741.4	-	6	843	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	PKLR_ENST00000392414.3_Missense_Mutation_p.V238I	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	269					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCTCGGACGTCCTGCTCG	0.672																																						uc001fkb.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(805-807)Gtc>Atc		Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Pyruvic acid(DB00119)						47	46	47					1																	155264433		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264433C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.805G>A	1.37:g.155264433C>T	ENSP00000339933:p.Val269Ile					PKLR_uc001fka.4_Missense_Mutation_p.V238I	p.V269I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		5	844	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		269					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.805G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093745	0.07053	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99329	-5.75;-5.75	4.48	-1.06	0.10002	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	1.234470	0.05244	N	0.512803	D	0.82568	0.5065	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.85733	0.1332	10	0.15499	T	0.54	-2.9389	1.2504	0.01981	0.4067:0.2792:0.1416:0.1725	.	269;260	P30613;B1AVT1	KPYR_HUMAN;.	I	294;238;269;183	ENSP00000376214:V238I;ENSP00000339933:V269I	ENSP00000271946:V183I	V	-	1	0	PKLR	153531057	0.000000	0.05858	0.001000	0.08648	0.344000	0.29017	-0.307000	0.08167	-0.277000	0.09193	-0.470000	0.05040	GTC		0.672	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		T	155264433	C	T	155264433	3	4	133	1	0	0	0	0	1	0	0	0	11976	536	19	1	943	1	PKLR	1	155264433	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	2982167	155264433	93986188	8	9125											
KCNH1	3756	broad.mit.edu	37	chr1	210977475	210977475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgttggaaaatagtcGtcacattcccgaagatggtg	12	11	10	8	2	2	1	1	0	1	1	4	3	3	2	1	2	0	1	1	2	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:210977475G>A	ENST00000271751.4	-	8	1523	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	KCNH1_ENST00000367007.4_Missense_Mutation_p.T472M			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	499					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAAAATAGTCGTCACATTCCC	0.478																																						uc001hib.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1495-1497)aCg>aTg		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.							132	119	123					1																	210977475		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210977475G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1496C>T	1.37:g.210977475G>A	ENSP00000271751:p.Thr499Met					KCNH1_uc001hic.2_Missense_Mutation_p.T472M	p.T499M	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1666	-			499					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1496C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799537	0.90538	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97688	-4.49;-4.49	5.6	5.6	0.85130	.	0.043712	0.85682	D	0.000000	D	0.98991	0.9656	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.99612	1.0981	10	0.87932	D	0	.	19.6055	0.95580	0.0:0.0:1.0:0.0	.	472;499	Q14CL3;O95259	.;KCNH1_HUMAN	M	499;472	ENSP00000271751:T499M;ENSP00000355974:T472M	ENSP00000271751:T499M	T	-	2	0	KCNH1	209044098	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.489000	0.97949	2.645000	0.89757	0.511000	0.50034	ACG		0.478	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	210977475	G	A	210977475	3	1	133	1	0	0	0	0	1	0	0	0	8031	1145	40	1	1489	1	KCNH1	1	210977475	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	55713042	210977475	38273146	9	9126											
AUP1	27429	broad.mit.edu	37	chr2	74756731	74756731	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtcaaagagccgctccGgccccggccctgagggaagc	8	3	15	15	4	1	2	1	1	0	1	2	4	2	3	5	3	2	1	5	3	2	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:74756731G>A	ENST00000258080.3	+	0	228				HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.P9L	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GAGCCGCTCCGGCCCCGGCCC	0.711																																						uc002smh.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11								Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.							10	15	13					2																	74756731		1788	3994	5782	SO:0001623	5_prime_UTR_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756731G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-403G>A	2.37:g.74756731G>A						AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Missense_Mutation_p.P9L|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Missense_Mutation_p.R40W|AUP1_uc021vjm.1_5'UTR|AUP1_uc010yry.2_Missense_Mutation_p.P9L|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc010ffl.3_5'Flank				Q9Y679	AUP1_HUMAN			0		-								Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37		CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047179	0.19827	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.84	5.84	0.93424	.	0.140306	0.49305	D	0.000159	T	0.48786	0.1519	N	0.08118	0	0.80722	D	1	D;B	0.89917	1.0;0.093	D;B	0.87578	0.998;0.007	T	0.40887	-0.9539	9	0.02654	T	1	-13.162	15.6279	0.76878	0.0:0.0:1.0:0.0	.	9;9	B4DW71;Q9Y679-2	.;.	L	9	.	ENSP00000258081:P9L	P	-	2	0	AUP1	74610239	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.855000	0.62925	2.768000	0.95171	0.561000	0.74099	CCG		0.711	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		A	74756731	G	A	74756731	1	1	133	0	1	0	0	0	0	0	0	0	1220	1116	39	2		2	AUP1	2	74756731	5'UTR	SNP	G	TCGA-14-0817-01A-01W-0424-08		74756731	168442642	10	9127											
ASTL	431705	broad.mit.edu	37	chr2	96795617	96795617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtagagtttgaggacccGggtgatgtccgaggcactca	8	8	15	10	3	1	3	1	2	0	1	2	5	2	4	3	3	0	3	3	3	1	2	rs568621983		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:96795617G>A	ENST00000342380.2	-	8	819	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TTGAGGACCCGGGTGATGTCC	0.652													G|||	1	0.000199681	0	0	5008	,	,		16995	0.001		0	False		,,,				2504	0					uc010yui.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(820-822)Cgg>Tgg		Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.							45	51	49					2																	96795617		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795617G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.820C>T	2.37:g.96795617G>A	ENSP00000343674:p.Arg274Trp						p.R274W	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			7	820	-			274						Missense_Mutation	SNP	ENST00000342380.2	37	c.820C>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084022	0.55861	.	.	ENSG00000188886	ENST00000342380	T	0.64260	-0.09	4.14	2.08	0.27032	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.44483	D	0.000442	T	0.79082	0.4386	M	0.89534	3.04	0.20196	N	0.999928	D	0.89917	1.0	D	0.79784	0.993	T	0.68202	-0.5471	10	0.87932	D	0	-21.0059	8.4956	0.33125	0.0:0.0:0.5797:0.4202	.	274	Q6HA08	ASTL_HUMAN	W	274	ENSP00000343674:R274W	ENSP00000343674:R274W	R	-	1	2	ASTL	96159344	0.594000	0.26849	0.844000	0.33320	0.975000	0.68041	1.671000	0.37513	0.839000	0.34971	0.555000	0.69702	CGG		0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			A	96795617	G	A	96795617	3	1	133	1	0	0	0	0	1	0	0	0	1063	1115	39	2	482	2	ASTL	2	96795617	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	22038886	96795617	146403756	11	9128											
ACMSD	130013	broad.mit.edu	37	chr2	135621053	135621053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccccaggaggttcgtggGtctggggacgttgcccatgc	5	9	15	12	2	1	0	0	0	1	0	2	2	1	2	3	5	3	2	3	5	1	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:135621053G>T	ENST00000356140.5	+	5	474	c.338G>T	c.(337-339)gGt>gTt	p.G113V	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.G55V|ACMSD_ENST00000392928.1_Missense_Mutation_p.G55V	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	113					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGTTCGTGGGTCTGGGGACG	0.587																																						uc002ttz.3																			0		p.V112V(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14						c.(337-339)gGt>gTt		Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.							81	72	75					2																	135621053		2203	4300	6503	SO:0001583	missense	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135621053G>T	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.338G>T	2.37:g.135621053G>T	ENSP00000348459:p.Gly113Val					ACMSD_uc002tua.3_Missense_Mutation_p.G55V	p.G113V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	4	405	+			113					Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	c.338G>T	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092521	0.76756	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.63	4.73	0.59995	.	0.044537	0.85682	D	0.000000	D	0.83454	0.5258	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86052	0.1526	9	0.56958	D	0.05	-12.428	16.3479	0.83151	0.0:0.1323:0.8677:0.0	.	55;113	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	V	113;55;55	.	ENSP00000283054:G55V	G	+	2	0	ACMSD	135337523	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	7.971000	0.88012	1.335000	0.45486	0.561000	0.74099	GGT		0.587	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			T	135621053	G	T	135621053	3	4	133	1	0	0	0	0	1	0	0	0	144	1261	44	5	356	5	ACMSD	2	135621053	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	38825436	135621053	107578320	12	9129											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	8	13	9	11	2	0	3	0	2	0	1	3	3	3	3	4	1	1	2	4	1	2	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4072-4074)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							119	113	115					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His					SCN7A_uc010fpm.2_Non-coding_Transcript	p.R1358H	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	4203	-			1358						Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167263066	C	T	167263066	3	4	133	1	0	0	0	0	1	0	0	0	13923	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	31642013	167263066	75936307	13	9130											
TTN	7273	broad.mit.edu	37	chr2	179575562	179575562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatcggttgtgtgcccGtgacgtggcactcaaagtca	7	12	11	11	3	2	1	2	1	0	0	3	1	2	1	2	2	1	2	2	2	2	3	rs375209383		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:179575562G>A	ENST00000591111.1	-	96	27535	c.27311C>T	c.(27310-27312)aCg>aTg	p.T9104M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T9421M|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T8177M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13236	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGTGCCCGTGACGTGGCA	0.522																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24529-24531)aCg>aTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,MET/THR	0,4006		0,0,2003	116	111	113		,,,24530	5.3	0.6	2		113	1,8347		0,1,4173	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,81	0,1,6176	AA,AG,GG		0.012,0.0,0.0081	,,,benign	,,,8177/33424	179575562	1,12353	2003	4174	6177	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575562G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27311C>T	2.37:g.179575562G>A	ENSP00000465570:p.Thr9104Met					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M	p.T8177M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24755	-			9104			Ig-like 64.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24530C>T		.	.	.	.	.	.	.	.	.	.	G	9.380	1.072720	0.20147	0.0	1.2E-4	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	6.17	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73118	0.3546	M	0.87269	2.87	0.80722	D	1	B	0.26845	0.161	B	0.28139	0.086	T	0.74791	-0.3545	9	0.87932	D	0	.	15.763	0.78101	0.065:0.0:0.935:0.0	.	9104	Q8WZ42	TITIN_HUMAN	M	8177	ENSP00000343764:T8177M	ENSP00000343764:T8177M	T	-	2	0	TTN	179283807	1.000000	0.71417	0.604000	0.28916	0.111000	0.19643	6.556000	0.73932	1.628000	0.50416	-0.150000	0.13652	ACG		0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179575562	G	A	179575562	3	1	133	1	0	0	0	0	1	0	0	0	16732	1145	40	1	76327	1	TTN	2	179575562	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	12312496	179575562	63623811	14	9131											
PLCL1	5334	broad.mit.edu	37	chr2	198968641	198968641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaactgagagctttgcttGgaacattacagtattgaagg	13	11	11	6	0	0	2	0	2	0	1	0	4	0	3	0	2	6	4	0	2	5	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:198968641G>A	ENST00000428675.1	+	5	3484	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.W931*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1029					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCTTTGCTTGGAACATTACA	0.403																																						uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3085-3087)tGg>tAg		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						78	79	78					2																	198968641		2202	4300	6502	SO:0001587	stop_gained	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198968641G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3086G>A	2.37:g.198968641G>A	ENSP00000402861:p.Trp1029*					PLCL1_uc002uuv.4_Nonsense_Mutation_p.W950*	p.W1029*	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			4	3484	+			1029					Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	c.3086G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	41	8.974837	0.99023	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	.	.	.	X	1029;931	.	.	W	+	2	0	PLCL1	198676886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	TGG		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		A	198968641	G	A	198968641	4	1	133	1	0	0	0	0	0	1	0	0	12039	1357	47	3	3104	3	PLCL1	2	198968641	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	19393079	198968641	44230732	15	9132											
ESPNL	339768	broad.mit.edu	37	chr2	239039147	239039147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgcagccacatctccCgcctggtacgcagcctgtcc	5	9	10	17	2	2	0	0	0	2	0	4	0	3	0	5	2	4	3	5	2	1	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:239039147C>T	ENST00000343063.3	+	9	2055	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	ESPNL_ENST00000409506.1_Missense_Mutation_p.R230C|ESPNL_ENST00000409169.1_Missense_Mutation_p.R554C|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	598										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACATCTCCCGCCTGGTACG	0.692																																						uc002vxq.4																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(1792-1794)Cgc>Tgc		Homo sapiens espin-like (ESPNL), mRNA.							9	11	10					2																	239039147		2168	4230	6398	SO:0001583	missense	339768							g.chr2:239039147C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1792C>T	2.37:g.239039147C>T	ENSP00000339115:p.Arg598Cys					ESPNL_uc010fyw.3_Missense_Mutation_p.R294C	p.R598C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1902	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	598					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.1792C>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300545	0.40694	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.64085	-0.08;1.03;0.62	3.78	1.82	0.25136	.	0.086755	0.43260	D	0.000598	T	0.66426	0.2788	L	0.51422	1.61	0.34286	D	0.68268	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.869	T	0.71108	-0.4688	10	0.56958	D	0.05	-29.4333	5.5386	0.17026	0.1726:0.4391:0.3882:0.0	.	554;598	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	C	598;554;230	ENSP00000339115:R598C;ENSP00000386577:R554C;ENSP00000386579:R230C	ENSP00000339115:R598C	R	+	1	0	ESPNL	238703886	0.609000	0.26975	0.646000	0.29493	0.489000	0.33432	1.787000	0.38704	0.567000	0.29293	0.205000	0.17691	CGC		0.692	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		T	239039147	C	T	239039147	3	4	133	1	0	0	0	0	1	0	0	0	5255	652	23	2	1826	2	ESPNL	2	239039147	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	40070506	239039147	4160226	16	9133											
CSPG5	10675	broad.mit.edu	37	chr3	47619104	47619104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaatggcagggggcatgaTtgactgcccgaggacctcgt	9	7	16	9	2	0	2	0	2	0	0	1	5	0	4	2	5	1	2	2	5	1	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:47619104T>C	ENST00000383738.2	-	2	2510	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.I138V|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	138					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGCATGATTGACTGCCCG	0.692																																						uc003crp.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(412-414)Atc>Gtc		Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.							35	43	40					3																	47619104		2196	4288	6484	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619104T>C	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.412A>G	3.37:g.47619104T>C	ENSP00000373244:p.Ile138Val					CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Missense_Mutation_p.I138V|CSPG5_uc021wxh.1_Missense_Mutation_p.I138V|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	p.I138V	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	1	588	-			138					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.412A>G	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.313894	0.00235	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.40756	1.02;1.02	3.76	-6.62	0.01813	Chondroitin sulphate attachment (1);	2.250040	0.02134	N	0.056622	T	0.20414	0.0491	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20009	-1.0288	10	0.42905	T	0.14	2.2655	5.9442	0.19209	0.1684:0.3381:0.0:0.4936	.	138;138	O95196;O95196-2	CSPG5_HUMAN;.	V	138	ENSP00000373244:I138V;ENSP00000264723:I138V	ENSP00000264723:I138V	I	-	1	0	CSPG5	47594108	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.785000	0.04628	-0.693000	0.05121	-1.711000	0.00714	ATC		0.692	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		C	47619104	T	C	47619104	3	2	133	1	0	0	0	0	1	0	0	0	3961	1493	52	4	1223	4	CSPG5	3	47619104	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08		47619104	150403326	17	9134											
KBTBD12	166348	broad.mit.edu	37	chr3	127682174	127682174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactccgcaccaattccacCaatgcaggggcagtggatgg	10	7	11	13	1	1	0	1	0	0	0	3	1	3	1	4	4	1	3	4	4	2	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:127682174C>T	ENST00000405109.1	+	5	2102	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	KBTBD12_ENST00000343941.4_Silent_p.T120T|KBTBD12_ENST00000407609.3_Silent_p.T152T|RNA5SP139_ENST00000364340.1_RNA|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Silent_p.T545T			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	545										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCAATTCCACCAATGCAGGGG	0.532																																						uc010hsr.3																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1633-1635)acC>acT		Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.							49	42	44					3																	127682174		2203	4300	6503	SO:0001819	synonymous_variant	166348							g.chr3:127682174C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1635C>T	3.37:g.127682174C>T						KBTBD12_uc003ejy.4_Silent_p.T152T|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Silent_p.T120T|5S_rRNA_uc021xdi.1_5'Flank	p.T545T	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			3	1638	+			545					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1635C>T	CCDS33848.2																																																																																				0.532	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		T	127682174	C	T	127682174	2	4	133	1	0	0	0	0	0	0	0	1	7991	581	21	3		3	KBTBD12	3	127682174	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	80063070	127682174	70340256	18	9135											
CNGA1	1259	broad.mit.edu	37	chr4	47938532	47938532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagaaatttctcaaccttgGttaatctttgtttcagtttc	9	19	5	8	0	4	1	3	0	2	1	6	1	4	1	1	1	1	3	1	1	3	6	rs566054486		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:47938532G>T	ENST00000514170.1	-	11	2298	c.1979C>A	c.(1978-1980)aCc>aAc	p.T660N	CNGA1_ENST00000420489.2_Missense_Mutation_p.T660N|CNGA1_ENST00000544810.1_Missense_Mutation_p.T660N|CNGA1_ENST00000358519.4_Missense_Mutation_p.T660N|CNGA1_ENST00000402813.3_Missense_Mutation_p.T729N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	660					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAACCTTGGTTAATCTTTG	0.463																																						uc003gxu.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(2185-2187)aCc>aAc		Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.							99	95	96					4																	47938532		1855	4109	5964	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938532G>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1979C>A	4.37:g.47938532G>T	ENSP00000426862:p.Thr660Asn					BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.T660N	p.T729N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN			9	2327	-			660					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.2186C>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119333	0.37436	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97138	-4.14;-4.26;-4.26;-4.26;-4.26	4.77	4.77	0.60923	.	0.155706	0.56097	D	0.000021	D	0.95130	0.8422	M	0.69248	2.105	0.46241	D	0.998945	B;B	0.32507	0.373;0.373	B;B	0.24269	0.052;0.052	D	0.94541	0.7745	10	0.48119	T	0.1	.	13.9719	0.64245	0.0:0.0:0.8478:0.1521	.	660;660	Q4W5E3;P29973	.;CNGA1_HUMAN	N	729;660;660;660;660	ENSP00000384264:T729N;ENSP00000426862:T660N;ENSP00000443401:T660N;ENSP00000351320:T660N;ENSP00000389881:T660N	ENSP00000351320:T660N	T	-	2	0	CNGA1	47633289	1.000000	0.71417	0.989000	0.46669	0.982000	0.71751	7.546000	0.82137	2.352000	0.79861	0.491000	0.48974	ACC		0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		T	47938532	G	T	47938532	3	4	133	1	0	0	0	0	1	0	0	0	3596	1261	44	5	97	5	CNGA1	4	47938532	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		47938532	143215744	19	9136											
CENPE	1062	broad.mit.edu	37	chr4	104068560	104068560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagctggtcatgtttaaCttcaagggcttcttttatcg	7	18	8	8	1	4	0	3	0	1	0	5	0	4	0	0	2	2	3	0	2	3	7			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:104068560C>A	ENST00000265148.3	-	29	4176	c.4087G>T	c.(4087-4089)Gtt>Ttt	p.V1363F	CENPE_ENST00000380026.3_Missense_Mutation_p.V1338F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1363					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATGTTTAACTTCAAGGGCT	0.343																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(4087-4089)Gtt>Ttt		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							100	98	99					4																	104068560		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104068560C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4087G>T	4.37:g.104068560C>A	ENSP00000265148:p.Val1363Phe					CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	p.V1363F	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	28	4177	-			1363					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4087G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	4.642	0.119275	0.08881	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71461	-0.57;-0.57	5.03	-0.826	0.10805	.	.	.	.	.	T	0.46034	0.1372	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.23655	-1.0182	9	0.30078	T	0.28	.	0.221	0.00168	0.3149:0.2676:0.1813:0.2361	.	1338;1363	Q02224-3;Q02224	.;CENPE_HUMAN	F	1363;1363;1338	ENSP00000265148:V1363F;ENSP00000369365:V1338F	ENSP00000265148:V1363F	V	-	1	0	CENPE	104288009	0.000000	0.05858	0.154000	0.22540	0.239000	0.25481	-1.542000	0.02196	0.145000	0.18977	-0.230000	0.12252	GTT		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104068560	C	A	104068560	3	1	133	1	0	0	0	0	1	0	0	0	3230	565	20	5	4102	5	CENPE	4	104068560	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	56130028	104068560	87085716	20	9137											
FBXW7	55294	broad.mit.edu	37	chr4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaatgtgactaggtttcGaataaattcacccgttttca	11	14	6	10	2	2	1	2	1	0	0	4	2	3	1	2	1	0	2	2	1	5	6	rs144247898		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	uc003ims.3				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		6	Substitution - Nonsense(5)|Unknown(1)	p.R658*(6)|p.R658Q(1)|p.R578*(1)|p.?(1)|p.R419*(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1972-1974)Cga>Tga		Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.							167	164	165					4																	153244185		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244185G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*					FBXW7_uc011cii.2_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.3_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.2_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.3_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.3_Nonsense_Mutation_p.R540*	p.R658*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			11	2134	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	658					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1972C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			A	153244185	G	A	153244185	4	1	133	1	0	0	0	0	0	1	0	0	5769	1066	37	2	155	2	FBXW7	4	153244185	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	49175625	153244185	37910091	21	9138											
NPY5R	4889	broad.mit.edu	37	chr4	164271738	164271738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactgacgtctgtcttgctgGatcagtggatgtttggcaaa	8	13	12	8	1	3	1	1	1	2	0	3	3	3	3	0	3	1	3	0	3	1	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:164271738G>C	ENST00000515560.1	+	4	1835	c.313G>C	c.(313-315)Gat>Cat	p.D105H	NPY5R_ENST00000506953.1_Missense_Mutation_p.D105H|NPY5R_ENST00000338566.3_Missense_Mutation_p.D105H			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	105					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTGCTGGATCAGTGGAT	0.393																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(313-315)Gat>Cat		Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.							301	292	295					4																	164271738		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271738G>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.313G>C	4.37:g.164271738G>C	ENSP00000423917:p.Asp105His					NPY5R_uc021xtw.1_Missense_Mutation_p.D105H	p.D105H	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			3	495	+	all_hematologic(180;0.166)	Prostate(90;0.109)	105					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.313G>C	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021883	0.75275	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37584	1.19;1.19;1.19	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.49660	0.1570	M	0.69463	2.115	0.80722	D	1	P	0.43314	0.803	P	0.48189	0.57	T	0.50268	-0.8848	10	0.49607	T	0.09	.	18.9152	0.92503	0.0:0.0:1.0:0.0	.	105	Q15761	NPY5R_HUMAN	H	105	ENSP00000339377:D105H;ENSP00000423917:D105H;ENSP00000423474:D105H	ENSP00000339377:D105H	D	+	1	0	NPY5R	164491188	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.487000	0.97945	2.533000	0.85409	0.591000	0.81541	GAT		0.393	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		C	164271738	G	C	164271738	3	2	133	1	0	0	0	0	1	0	0	0	10610	1174	41	5	315	5	NPY5R	4	164271738	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	11027553	164271738	26882538	22	9139											
SLC9A3	6550	broad.mit.edu	37	chr5	482707	482707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgatggtggtgctgaCgaacaggttcttctccttga	8	13	12	8	2	2	3	0	3	2	0	3	5	2	3	1	3	3	2	1	3	2	4	rs375784344		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:482707C>T	ENST00000264938.3	-	7	1321	c.1312G>A	c.(1312-1314)Gtc>Atc	p.V438I	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.V438I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	438					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGTGCTGACGAACAGGTTC	0.652													C|||	1	0.000199681	0	0	5008	,	,		14319	0.001		0	False		,,,				2504	0					uc003jbe.2																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1312-1314)Gtc>Atc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.		C	ILE/VAL	0,4404		0,0,2202	99	87	91		1312	4.1	1	5		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A3	NM_004174.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	438/835	482707	1,13003	2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482707C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1312G>A	5.37:g.482707C>T	ENSP00000264938:p.Val438Ile					SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	p.V438I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		6	1424	-			438					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1312G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836208	0.32421	0.0	1.16E-4	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.14893	2.47;2.47	4.13	4.13	0.48395	Cation/H+ exchanger (1);	0.350750	0.29486	N	0.012007	T	0.15565	0.0375	N	0.12746	0.255	0.34276	D	0.681526	P;D	0.58268	0.854;0.982	B;P	0.51016	0.403;0.656	T	0.24621	-1.0155	10	0.24483	T	0.36	.	15.9847	0.80142	0.0:1.0:0.0:0.0	.	438;438	E9PF67;P48764	.;SL9A3_HUMAN	I	438	ENSP00000264938:V438I;ENSP00000422983:V438I	ENSP00000264938:V438I	V	-	1	0	SLC9A3	535707	0.990000	0.36364	0.986000	0.45419	0.608000	0.37181	2.734000	0.47368	1.836000	0.53414	0.561000	0.74099	GTC		0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		T	482707	C	T	482707	3	4	133	1	0	0	0	0	1	0	0	0	14713	536	19	1	1236	1	SLC9A3	5	482707	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		482707	180432553	23	9140											
GPR98	84059	broad.mit.edu	37	chr5	89954051	89954051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaatacaaaaaagtgacAatgcaaatggcttgtttggt	17	11	8	5	0	0	1	0	1	0	0	0	1	0	1	0	2	3	3	0	2	8	4	rs537211169		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:89954051A>G	ENST00000405460.2	+	21	4804	c.4708A>G	c.(4708-4710)Aat>Gat	p.N1570D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1570	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAAGTGACAATGCAAATGG	0.343													A|||	1	0.000199681	8e-04	0	5008	,	,		19613	0		0	False		,,,				2504	0					uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4708-4710)Aat>Gat		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							73	73	73					5																	89954051		1813	4085	5898	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89954051A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4708A>G	5.37:g.89954051A>G	ENSP00000384582:p.Asn1570Asp					GPR98_uc003kjt.3_5'UTR	p.N1570D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	4804	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1570					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4708A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159961	0.78226	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.24151	1.87	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.33710	1.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13415	-1.0510	10	0.40728	T	0.16	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	1570	Q8WXG9	GPR98_HUMAN	D	1570	ENSP00000384582:N1570D	ENSP00000296619:N1570D	N	+	1	0	GPR98	89989807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.065000	0.76727	2.237000	0.73441	0.528000	0.53228	AAT		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89954051	A	G	89954051	3	3	133	1	0	0	0	0	1	0	0	0	6721	130	5	4	4790	4	GPR98	5	89954051	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	89471344	89954051	90961209	24	9141											
NUP153	9972	broad.mit.edu	37	chr6	17616339	17616339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacctttatttcctgcGtctaacagcagtctttatct	8	17	6	10	1	3	1	0	1	3	0	4	1	4	1	2	0	3	1	2	0	3	6			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:17616339G>A	ENST00000262077.2	-	22	4416	c.4417C>T	c.(4417-4419)Cgc>Tgc	p.R1473C	NUP153_ENST00000537253.1_Missense_Mutation_p.R1504C	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1473					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTTCCTGCGTCTAACAGCA	0.388																																						uc003ncd.1																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(4417-4419)Cgc>Tgc		Homo sapiens nucleoporin 153kDa (NUP153), mRNA.							155	145	149					6																	17616339		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17616339G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4417C>T	6.37:g.17616339G>A	ENSP00000262077:p.Arg1473Cys					NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	p.R1473C	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		21	4617	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1473					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.4417C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962100	0.74016	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.57907	0.37;0.37	5.66	5.66	0.87406	Retro-transposon transporting, conserved site (1);	0.000000	0.48767	D	0.000161	T	0.67458	0.2895	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69503	-0.5128	10	0.87932	D	0	-2.74	19.7427	0.96238	0.0:0.0:1.0:0.0	.	1504;1453;1473	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	C	1473;1453;1504	ENSP00000262077:R1473C;ENSP00000444029:R1504C	ENSP00000262077:R1473C	R	-	1	0	NUP153	17724318	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.780000	0.91799	2.638000	0.89438	0.563000	0.77884	CGC		0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			A	17616339	G	A	17616339	3	1	133	1	0	0	0	0	1	0	0	0	10755	1145	40	1	14	1	NUP153	6	17616339	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		17616339	153498728	25	9142											
SUPT3H	8464	broad.mit.edu	37	chr6	44922308	44922308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttatctccatactgctgCagtccaaccagtctcgaaat	10	13	6	12	1	2	0	0	0	2	0	5	1	3	0	3	0	4	3	3	0	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:44922308C>T	ENST00000371459.1	-	8	782	c.617G>A	c.(616-618)tGc>tAc	p.C206Y	SUPT3H_ENST00000371460.1_Missense_Mutation_p.C217Y|SUPT3H_ENST00000371461.2_Missense_Mutation_p.C217Y|SUPT3H_ENST00000306867.5_Missense_Mutation_p.C206Y|SUPT3H_ENST00000371458.1_5'UTR	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	288					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATACTGCTGCAGTCCAACCA	0.348																																						uc003oxp.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(616-618)tGc>tAc		Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.							152	146	148					6																	44922308		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44922308C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.617G>A	6.37:g.44922308C>T	ENSP00000360514:p.Cys206Tyr					SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc003oxo.3_Missense_Mutation_p.C217Y|SUPT3H_uc011dvv.2_Missense_Mutation_p.C54Y|SUPT3H_uc011dvw.2_Missense_Mutation_p.C120Y	p.C206Y	NM_003599	NP_003590	O75486	SUPT3_HUMAN			7	783	-			288					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.617G>A	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326079	0.81580	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.44482	0.92;0.94;0.94;0.92	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.929;0.991	T	0.62732	-0.6792	10	0.66056	D	0.02	.	19.3898	0.94576	0.0:1.0:0.0:0.0	.	217;288	O75486-3;O75486	.;SUPT3_HUMAN	Y	217;206;206;217	ENSP00000360515:C217Y;ENSP00000360514:C206Y;ENSP00000306718:C206Y;ENSP00000360516:C217Y	ENSP00000306718:C206Y	C	-	2	0	SUPT3H	45030286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.654000	0.61469	2.579000	0.87056	0.555000	0.69702	TGC		0.348	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		T	44922308	C	T	44922308	3	4	133	1	0	0	0	0	1	0	0	0	15394	710	25	3	352	3	SUPT3H	6	44922308	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	27305969	44922308	126192759	26	9143											
MEP1A	4224	broad.mit.edu	37	chr6	46761453	46761453	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatttcagaaatcaatttaGgtgagttcaatttttgtgtt	12	19	7	3	0	3	2	3	1	0	1	3	2	3	2	0	1	0	2	0	1	5	8			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:46761453G>A	ENST00000230588.4	+	3	154	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	49					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATCAATTTAGGTGAGTTCAA	0.313																																						uc011dwh.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e2+1		Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.							43	46	45					6																	46761453		2203	4295	6498	SO:0001630	splice_region_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761453G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.145+1G>A	6.37:g.46761453G>A						MEP1A_uc010jzh.1_Splice_Site_p.A49_splice|MEP1A_uc011dwg.1_Splice_Site|MEP1A_uc011dwi.1_Splice_Site	p.A77_splice	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		2	237	+			49			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.229_splice	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544346	0.65198	.	.	ENSG00000112818	ENST00000230588	T	0.24908	1.83	5.47	5.47	0.80525	.	0.365392	0.29451	N	0.012120	T	0.18130	0.0435	L	0.54323	1.7	0.43540	D	0.995839	P;P	0.41041	0.736;0.561	B;B	0.41332	0.354;0.262	T	0.01178	-1.1427	10	0.36615	T	0.2	-3.6452	15.1722	0.72884	0.0:0.0:1.0:0.0	.	77;49	B7ZL91;Q16819	.;MEP1A_HUMAN	T	49	ENSP00000230588:A49T	ENSP00000230588:A49T	A	+	1	0	MEP1A	46869412	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.992000	0.63889	2.724000	0.93272	0.650000	0.86243	GCT		0.313	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	Missense_Mutation	A	46761453	G	A	46761453	5	1	133	1	0	0	0	0	0	0	1	0	9475	1014	35	3	155	3	MEP1A	6	46761453	Splice_Site	SNP	G	TCGA-14-0817-01A-01W-0424-08	1839145	46761453	124353614	27	9144											
HTR1E	3354	broad.mit.edu	37	chr6	87725079	87725079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaactgtaccacagaGgccagcatggctataagacc	15	6	8	12	0	1	2	1	0	0	2	1	2	1	2	3	2	3	3	3	2	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:87725079G>A	ENST00000305344.5	+	2	730	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	9					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTACCACAGAGGCCAGCATGG	0.473																																						uc003pli.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(25-27)gaG>gaA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	Eletriptan(DB00216)						117	99	105					6																	87725079		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725079G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.27G>A	6.37:g.87725079G>A						HTR1E_uc021zcg.1_Silent_p.E9E	p.E9E	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	1	730	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	9					E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.27G>A	CCDS5006.1																																																																																				0.473	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		A	87725079	G	A	87725079	2	1	133	1	0	0	0	0	0	0	0	1	7439	991	35	3		3	HTR1E	6	87725079	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	40963626	87725079	83389988	28	9145											
GRM1	2911	broad.mit.edu	37	chr6	146720758	146720758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccgcatgcatgttggCgatggcaagctgccctgccg	5	10	14	12	3	0	0	0	0	0	0	1	1	1	0	3	2	4	6	3	2	1	2	rs148042148		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:146720758C>T	ENST00000282753.1	+	7	2818	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_ENST00000392299.2_Silent_p.G861G|GRM1_ENST00000361719.2_Silent_p.G861G|GRM1_ENST00000492807.2_Silent_p.G861G|GRM1_ENST00000507907.1_Silent_p.G861G|GRM1_ENST00000355289.4_Silent_p.G861G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	861					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGCATGTTGGCGATGGCAAGC	0.522																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2581-2583)ggC>ggT		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	C	,	1,4405	2.1+/-5.4	0,1,2202	52	44	47		2583,2583	-3.1	1	6	dbSNP_134	47	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	861/1195,861/907	146720758	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720758C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2583C>T	6.37:g.146720758C>T						GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	3053	+		Ovarian(120;0.0387)	861					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2583C>T	CCDS5209.1																																																																																				0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720758	C	T	146720758	2	4	133	1	0	0	0	0	0	0	0	1	6796	755	27	1		1	GRM1	6	146720758	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	58995679	146720758	24394309	29	9146											
SYNE1	23345	broad.mit.edu	37	chr6	152763368	152763368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttctttgctgagatccGctttgtcttttgctagaagc	5	18	8	10	1	3	2	0	1	3	2	5	3	4	2	1	0	3	3	1	0	2	6	rs140780725	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:152763368G>A	ENST00000367255.5	-	31	4451	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1284W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1284W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1274W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1291W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1291W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1350W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1284W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1284					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGAGATCCGCTTTGTCTTT	0.512										HNSCC(10;0.0054)			G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18110	0		0	False		,,,				2504	0					uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3850-3852)Cgg>Tgg		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	73	63	66		3871,3850	0.4	1	6	dbSNP_134	66	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	101,101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	1291/8750,1284/8798	152763368	4,13002	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763368G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3850C>T	6.37:g.152763368G>A	ENSP00000356224:p.Arg1284Trp	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.R1291W|SYNE1_uc003qou.4_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.3_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	p.R1284W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	28	4073	-		Ovarian(120;0.0955)	1284					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3850C>T	CCDS5236.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.48	3.834949	0.71373	9.08E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88896	0.53;0.53;0.44;0.53;0.6;-2.28;-2.44;-2.44	5.41	0.377	0.16198	.	0.423433	0.21640	N	0.071360	D	0.84584	0.5504	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.994;0.992;0.999;0.994;0.997	B;P;P;P;P;P	0.62382	0.405;0.634;0.785;0.901;0.634;0.799	T	0.82780	-0.0288	10	0.66056	D	0.02	.	7.2271	0.26022	0.0:0.1399:0.2963:0.5638	.	1267;1284;1274;1284;1284;1291	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	W	1284;1291;1284;1291;1350;1284;1274;1284	ENSP00000356224:R1284W;ENSP00000396024:R1291W;ENSP00000265368:R1284W;ENSP00000390975:R1291W;ENSP00000341887:R1350W;ENSP00000356222:R1284W;ENSP00000356217:R1274W;ENSP00000414510:R1284W	ENSP00000265368:R1284W	R	-	1	2	SYNE1	152805061	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.884000	0.28214	0.113000	0.18004	-0.172000	0.13284	CGG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152763368	G	A	152763368	3	1	133	1	0	0	0	0	1	0	0	0	15442	1086	38	1	23080	1	SYNE1	6	152763368	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	6042610	152763368	18351699	30	9147											
SLC22A2	6582	broad.mit.edu	37	chr6	160662608	160662608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggaacagatgtggaCgccaagattcctagaatgca	14	8	11	8	1	0	4	0	1	0	3	1	6	1	6	2	2	2	1	2	2	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:160662608C>T	ENST00000366953.3	-	9	1657	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	467					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAGATGTGGACGCCAAGATTC	0.453																																						uc003qtf.3																			0		p.G466A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1399-1401)Gtc>Atc		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.							129	100	110					6																	160662608		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160662608C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1399G>A	6.37:g.160662608C>T	ENSP00000355920:p.Val467Ile						p.V467I	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	8	1573	-		Breast(66;0.000776)|Ovarian(120;0.0303)	467					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1399G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.221108	0.39201	.	.	ENSG00000112499	ENST00000366953	T	0.73363	-0.74	4.57	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.146153	0.44902	N	0.000409	T	0.51635	0.1686	L	0.45422	1.42	0.80722	D	1	B	0.33318	0.408	B	0.35413	0.202	T	0.55244	-0.8171	10	0.38643	T	0.18	.	9.6246	0.39743	0.0:0.8399:0.0:0.1601	.	467	O15244	S22A2_HUMAN	I	467	ENSP00000355920:V467I	ENSP00000355920:V467I	V	-	1	0	SLC22A2	160582598	0.998000	0.40836	0.002000	0.10522	0.704000	0.40688	3.850000	0.55918	1.290000	0.44636	-0.127000	0.14921	GTC		0.453	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		T	160662608	C	T	160662608	3	4	133	1	0	0	0	0	1	0	0	0	14450	536	19	1	280	1	SLC22A2	6	160662608	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	7899240	160662608	10452459	31	9148											
UNC93A	54346	broad.mit.edu	37	chr6	167728686	167728686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcagctctctacggcGttctgtttgagaagagcaag	8	11	11	11	2	3	2	0	1	3	2	4	3	3	2	1	1	4	5	1	1	3	3	rs572198078	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:167728686G>A	ENST00000230256.3	+	8	1295	c.1120G>A	c.(1120-1122)Gtt>Att	p.V374I	UNC93A_ENST00000366829.2_Missense_Mutation_p.V332I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTCTACGGCGTTCTGTTTGA	0.567													G|||	3	0.000599042	0	0	5008	,	,		18609	0		0	False		,,,				2504	0.0031					uc003qvq.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1120-1122)Gtt>Att		Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.							58	65	63					6																	167728686		2202	4300	6502	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167728686G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1120G>A	6.37:g.167728686G>A	ENSP00000230256:p.Val374Ile					UNC93A_uc003qvr.3_Missense_Mutation_p.V332I	p.V374I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	7	1295	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	374					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1120G>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087751	0.01873	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.19394	2.34;2.15	3.86	1.96	0.26148	Major facilitator superfamily domain, general substrate transporter (1);	0.132682	0.50627	N	0.000110	T	0.04952	0.0133	L	0.38175	1.15	0.30744	N	0.745851	B;B	0.27656	0.184;0.107	B;B	0.18263	0.021;0.021	T	0.35101	-0.9802	10	0.32370	T	0.25	-10.9034	8.1552	0.31165	0.215:0.0:0.785:0.0	.	332;374	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	I	374;332	ENSP00000230256:V374I;ENSP00000355794:V332I	ENSP00000230256:V374I	V	+	1	0	UNC93A	167648676	0.706000	0.27856	0.003000	0.11579	0.054000	0.15201	0.965000	0.29319	0.223000	0.20920	0.462000	0.41574	GTT		0.567	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		A	167728686	G	A	167728686	3	1	133	1	0	0	0	0	1	0	0	0	16993	1145	40	1	1150	1	UNC93A	6	167728686	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	7066078	167728686	3386381	32	9149											
CALN1	83698	broad.mit.edu	37	chr7	71488740	71488740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcatgaattcatcaaaatCcacctggccatcccctgcaa	12	9	6	14	0	3	1	3	1	0	0	5	1	5	1	5	2	1	1	5	2	4	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:71488740C>A	ENST00000329008.5	-	4	575	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	CALN1_ENST00000431984.1_Missense_Mutation_p.D93Y|CALN1_ENST00000405452.2_Missense_Mutation_p.D93Y|CALN1_ENST00000412588.1_Missense_Mutation_p.D135Y|CALN1_ENST00000395276.2_Missense_Mutation_p.D93Y|CALN1_ENST00000395275.2_Missense_Mutation_p.D135Y	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	93	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458																																						uc003twb.4																			0		p.E135K(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(403-405)Gat>Tat		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.							117	98	104					7																	71488740		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71488740C>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.277G>T	7.37:g.71488740C>A	ENSP00000332498:p.Asp93Tyr					CALN1_uc003twa.4_Missense_Mutation_p.D93Y|CALN1_uc003twc.4_Missense_Mutation_p.D93Y	p.D135Y	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			4	794	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	93					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.403G>T	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753640	0.89753	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.87	5.87	0.94306	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89298	0.6675	H	0.96576	3.845	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.64506	0.926;0.926	D	0.91511	0.5227	10	0.59425	D	0.04	-29.5575	18.0718	0.89410	0.0:1.0:0.0:0.0	.	93;93	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Y	93;135;93;93;135;93;93	ENSP00000332498:D93Y;ENSP00000378690:D135Y;ENSP00000378691:D93Y;ENSP00000410704:D93Y;ENSP00000391882:D135Y;ENSP00000384354:D93Y;ENSP00000411806:D93Y	ENSP00000332498:D93Y	D	-	1	0	CALN1	71126676	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.105000	0.77031	2.941000	0.99782	0.655000	0.94253	GAT		0.458	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		A	71488740	C	A	71488740	3	1	133	1	0	0	0	0	1	0	0	0	2591	855	30	5	394	5	CALN1	7	71488740	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		71488740	87649923	33	9150											
ABCB1	5243	broad.mit.edu	37	chr7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtaggctccaaaccGgaaacatccagcataggaaa	17	4	8	12	1	0	0	0	0	0	0	2	2	2	2	4	3	3	3	4	3	6	2	rs200280095		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:87148697G>A	ENST00000265724.3	-	24	3289	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTCCAAACCGGAAACATCCA	0.378																																						uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2872-2874)Cgg>Tgg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						95	87	90					7																	87148697		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148697G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2872C>T	7.37:g.87148697G>A	ENSP00000265724:p.Arg958Trp					ABCB1_uc011khc.2_Missense_Mutation_p.R894W	p.R958W	NM_000927	NP_000918	P08183	MDR1_HUMAN			23	3365	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2872C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892567	0.52121	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86366	-2.11;-2.11	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	D	0.000013	D	0.88962	0.6580	L	0.28556	0.865	0.47737	D	0.9995	B;D	0.89917	0.071;1.0	B;D	0.71184	0.027;0.972	D	0.88159	0.2856	10	0.41790	T	0.15	-10.1447	14.8298	0.70139	0.0:0.0:0.8561:0.1439	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	W	739;958;894	ENSP00000265724:R958W;ENSP00000444095:R894W	ENSP00000265724:R958W	R	-	1	2	ABCB1	86986633	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.971000	0.49248	2.736000	0.93811	0.561000	0.74099	CGG		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87148697	G	A	87148697	3	1	133	1	0	0	0	0	1	0	0	0	40	1115	39	2	994	2	ABCB1	7	87148697	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	15659957	87148697	71989966	34	9151											
PEX1	5189	broad.mit.edu	37	chr7	92120719	92120719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggactgatctaagccaCattctccatctccagctgaa	12	9	7	13	0	3	2	0	2	3	0	5	3	3	3	3	1	2	1	3	1	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:92120719C>A	ENST00000248633.4	-	21	3400	c.3305G>T	c.(3304-3306)tGt>tTt	p.C1102F	AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Missense_Mutation_p.C1045F|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.C780F	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1102					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATCTAAGCCACATTCTCCATC	0.428																																						uc003uly.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3304-3306)tGt>tTt		Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.							181	180	180					7																	92120719		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120719C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3305G>T	7.37:g.92120719C>A	ENSP00000248633:p.Cys1102Phe					PEX1_uc011khr.2_Missense_Mutation_p.C894F|PEX1_uc010ley.3_Missense_Mutation_p.C1045F|PEX1_uc011khs.2_Missense_Mutation_p.C780F	p.C1102F	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		20	3401	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1102					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3305G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629763	0.46944	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94184	-3.31;-3.34;-3.37	4.69	3.81	0.43845	.	0.438819	0.26715	N	0.022862	D	0.85915	0.5808	N	0.22421	0.69	0.80722	D	1	B;B;B	0.26147	0.143;0.047;0.047	B;B;B	0.18561	0.022;0.02;0.02	T	0.81234	-0.1025	10	0.28530	T	0.3	-2.254	10.1307	0.42676	0.0:0.7735:0.1471:0.0795	.	780;894;1102	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	F	780;1102;1045	ENSP00000410438:C780F;ENSP00000248633:C1102F;ENSP00000394413:C1045F	ENSP00000248633:C1102F	C	-	2	0	PEX1	91958655	0.980000	0.34600	1.000000	0.80357	0.993000	0.82548	1.279000	0.33191	1.350000	0.45770	0.485000	0.47835	TGT		0.428	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		A	92120719	C	A	92120719	3	1	133	1	0	0	0	0	1	0	0	0	11735	478	17	5	562	5	PEX1	7	92120719	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	4972022	92120719	67017944	35	9152											
NPTX2	4885	broad.mit.edu	37	chr7	98254301	98254301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	15	6	7	13	3	1	3	1	0	0	3	2	3	2	3	2	1	3	3	2	1	7	3	rs573416055		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													C|||	1	0.000199681	0	0	5008	,	,		19245	0		0.001	False		,,,				2504	0					uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(709-711)taC>taT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							222	177	192					7																	98254301		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254301C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>T	7.37:g.98254301C>T							p.Y237Y	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	888	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		237			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.711C>T	CCDS5657.1																																																																																				0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98254301	C	T	98254301	2	4	133	1	0	0	0	0	0	0	0	1	10603	547	19	1		1	NPTX2	7	98254301	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	6133582	98254301	60884362	36	9153											
LMOD2	442721	broad.mit.edu	37	chr7	123302696	123302696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcattttgacaagaaatatGgataaacagaggcaaaaacg	20	7	9	5	1	0	3	0	1	0	2	0	4	0	4	0	2	3	2	0	2	7	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:123302696G>A	ENST00000458573.2	+	2	1213	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	352						cytoskeleton (GO:0005856)		p.M352I(1)									CAAGAAATATGGATAAACAGA	0.473																																						uc003vky.2																			1	Substitution - Missense(1)	p.M352I(1)	skin(1)								c.(1054-1056)atG>atA		Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.							119	113	115					7																	123302696		1977	4170	6147	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302696G>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1056G>A	7.37:g.123302696G>A	ENSP00000411932:p.Met352Ile						p.M352I	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			1	1213	+			352					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1056G>A	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675226	0.88445	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.91631	-2.88	5.27	5.27	0.74061	.	.	.	.	.	D	0.92642	0.7662	M	0.74647	2.275	0.80722	D	1	D	0.59357	0.985	P	0.47206	0.541	D	0.90651	0.4582	9	0.15499	T	0.54	.	19.2535	0.93935	0.0:0.0:1.0:0.0	.	352	Q6P5Q4	LMOD2_HUMAN	I	352;312;323	ENSP00000411932:M352I	ENSP00000405123:M323I	M	+	3	0	LMOD2	123089932	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.568000	0.73987	2.624000	0.88883	0.491000	0.48974	ATG		0.473	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			A	123302696	G	A	123302696	3	1	133	1	0	0	0	0	1	0	0	0	8857	1348	47	3	1062	3	LMOD2	7	123302696	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	25048395	123302696	35835967	37	9154											
TRPV5	56302	broad.mit.edu	37	chr7	142622682	142622682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtgcggttgccaccaCgaaacttaagggggcggtag	11	7	15	8	3	0	1	0	1	0	0	0	2	0	1	2	4	3	2	2	4	4	3	rs200067461		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:142622682C>T	ENST00000265310.1	-	8	1412	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R355H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	355					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R355L(1)|p.R355H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGCCACCACGAAACTTAAG	0.517													C|||	1	0.000199681	0	0	5008	,	,		20619	0.001		0	False		,,,				2504	0					uc003wby.1																			2	Substitution - Missense(2)	p.R355L(2)|p.R355H(2)	ovary(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1063-1065)cGt>cAt		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	122	106	112		1064	5.2	0	7		112	0,8600		0,0,4300	yes	missense	TRPV5	NM_019841.4	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	355/730	142622682	2,13004	2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142622682C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1064G>A	7.37:g.142622682C>T	ENSP00000265310:p.Arg355His					TRPV5_uc003wbz.3_Missense_Mutation_p.R355H	p.R355H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			7	1328	-	Melanoma(164;0.059)		355					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1064G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761725	0.89932	4.54E-4	0.0	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;D;D	0.85339	-1.97;-1.97;-1.97	5.18	5.18	0.71444	.	0.202656	0.43747	D	0.000525	D	0.90703	0.7083	M	0.80982	2.52	0.09310	N	1	D;D	0.69078	0.99;0.997	P;P	0.55455	0.776;0.724	D	0.85055	0.0931	10	0.46703	T	0.11	-18.3936	18.0624	0.89381	0.0:1.0:0.0:0.0	.	355;355	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	H	355;300;355	ENSP00000265310:R355H;ENSP00000406361:R300H;ENSP00000406572:R355H	ENSP00000265310:R355H	R	-	2	0	TRPV5	142332804	0.482000	0.25948	0.012000	0.15200	0.875000	0.50365	2.793000	0.47845	2.575000	0.86900	0.655000	0.94253	CGT		0.517	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		T	142622682	C	T	142622682	3	4	133	1	0	0	0	0	1	0	0	0	16596	536	19	1	1157	1	TRPV5	7	142622682	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	19319986	142622682	16515981	38	9155											
OR2A12	346525	broad.mit.edu	37	chr7	143792808	143792808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctatttgcgggttctgCgttcatcttagtggggccgc	3	14	14	10	3	3	0	1	0	2	0	4	0	4	0	2	4	2	2	2	4	2	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:143792808C>T	ENST00000408949.2	+	1	668	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCGGGTTCTGCGTTCATCTTA	0.537																																						uc011kty.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(607-609)gCg>gTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							204	198	200					7																	143792808		2019	4185	6204	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792808C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.608C>T	7.37:g.143792808C>T	ENSP00000386174:p.Ala203Val						p.A203V	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	608	+	Melanoma(164;0.0783)		203					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.608C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.146130	0.00328	.	.	ENSG00000221858	ENST00000408949	T	0.33865	1.39	4.23	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10294	0.0252	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31943	-0.9925	9	0.02654	T	1	-15.1716	7.7161	0.28704	0.0:0.1038:0.0:0.8962	.	203	Q8NGT7	O2A12_HUMAN	V	203	ENSP00000386174:A203V	ENSP00000386174:A203V	A	+	2	0	OR2A12	143423741	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.075000	0.11431	0.673000	0.31224	-0.431000	0.05894	GCG		0.537	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			T	143792808	C	T	143792808	3	4	133	1	0	0	0	0	1	0	0	0	10975	768	27	1	610	1	OR2A12	7	143792808	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	1170126	143792808	15345855	39	9156											
SSPO	23145	broad.mit.edu	37	chr7	149502623	149502623	+	RNA	DEL	C	C	-																															agccctggggattcatcctgCccaggagatgccacccagga																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:149502623delC	ENST00000378016.2	+	0	8436							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCATCCTGCCCAGGAGATG	0.682																																						uc010lpk.3																			0											c.(8425-8427)tgcfs		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							36	43	41					7																	149502623		1900	4102	6002			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149502623delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502623delC							p.C2809fs	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		56	8427	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2812			TSP type-1 7.		Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37	c.8427delC																																																																																					0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				-	149502623	C	-	149502623	6	5	133	0	1	1	0	1	0	0	0	0	15188	747	26	0		0	SSPO	7	149502623	RNA	DEL	C	TCGA-14-0817-01A-01W-0424-08	5709815	149502623	9636040	40	9157											
NOS3	4846	broad.mit.edu	37	chr7	150703567	150703567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctacaacagctcccctcGgccggaacagcacaagtgag	11	4	9	17	2	0	1	0	1	0	0	2	2	1	2	5	2	5	2	5	2	4	1	rs145168353		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:150703567G>A	ENST00000297494.3	+	15	2162	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	NOS3_ENST00000461406.1_Missense_Mutation_p.R396Q	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R602Q(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTCCCCTCGGCCGGAACAG	0.542													G|||	1	0.000199681	0	0	5008	,	,		16625	0.001		0	False		,,,				2504	0					uc003wif.3																			1	Substitution - Missense(1)	p.R602Q(2)	large_intestine(1)	NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1804-1806)cGg>cAg		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	81	91	88		1805	4.6	1	7	dbSNP_134	88	0,8600		0,0,4300	yes	missense	NOS3	NM_000603.4	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	602/1204	150703567	2,13004	2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150703567G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1805G>A	7.37:g.150703567G>A	ENSP00000297494:p.Arg602Gln					NOS3_uc011kuy.2_Missense_Mutation_p.R396Q	p.R602Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	2101	+	all_neural(206;0.219)		602		R -> Q (in a colorectal cancer sample; somatic mutation).	Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1805G>A	CCDS5912.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.59	2.281457	0.40394	4.54E-4	0.0	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.01887	4.74;4.58	4.63	4.63	0.57726	Flavodoxin/nitric oxide synthase (2);	0.114202	0.37761	N	0.001958	T	0.02119	0.0066	N	0.14661	0.345	0.80722	D	1	B;B	0.26041	0.14;0.114	B;B	0.32677	0.15;0.072	T	0.62015	-0.6943	10	0.13853	T	0.58	-10.0753	15.3875	0.74714	0.0:0.0:1.0:0.0	.	396;602	E7ESA7;P29474	.;NOS3_HUMAN	Q	602;396	ENSP00000297494:R602Q;ENSP00000417143:R396Q	ENSP00000297494:R602Q	R	+	2	0	NOS3	150334500	0.996000	0.38824	1.000000	0.80357	0.882000	0.50991	2.903000	0.48711	2.560000	0.86352	0.609000	0.83330	CGG		0.542	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		A	150703567	G	A	150703567	3	1	133	1	0	0	0	0	1	0	0	0	10544	1116	39	2	2141	2	NOS3	7	150703567	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	1200944	150703567	8435096	41	9158											
PRSS55	203074	broad.mit.edu	37	chr8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccaaaaatatgctgtgtgCcggatacaagaatgagagct	15	9	10	7	1	0	2	0	1	0	2	0	4	0	3	2	1	5	2	2	1	7	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:10390524C>T	ENST00000328655.3	+	4	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483																																						uc003wta.3																			0		p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(706-708)gCc>gTc		Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.							121	104	110					8																	10390524		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10390524C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.707C>T	8.37:g.10390524C>T	ENSP00000333003:p.Ala236Val					AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	p.A236V	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			3	747	+			236			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.707C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733040	0.48939	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.94966	-3.57;-3.57	5.42	5.42	0.78866	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34725	N	0.003736	D	0.95007	0.8384	L	0.53617	1.68	0.43863	D	0.996461	D	0.52996	0.957	P	0.54431	0.752	D	0.94760	0.7935	10	0.54805	T	0.06	.	15.0703	0.72030	0.0:1.0:0.0:0.0	.	236	Q6UWB4	PRS55_HUMAN	V	236	ENSP00000333003:A236V;ENSP00000430459:A236V	ENSP00000333003:A236V	A	+	2	0	PRSS55	10427934	0.973000	0.33851	0.966000	0.40874	0.052000	0.14988	2.472000	0.45136	2.694000	0.91930	0.591000	0.81541	GCC		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		T	10390524	C	T	10390524	3	4	133	1	0	0	0	0	1	0	0	0	12634	739	26	3	721	3	PRSS55	8	10390524	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		10390524	135973498	42	9159											
PHYHIP	9796	broad.mit.edu	37	chr8	22079191	22079191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtacatgcagtagaagtccGcaaagtagaggttggtgctg	11	10	14	6	1	0	2	0	0	0	2	1	2	1	2	1	2	3	7	1	2	5	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:22079191G>A	ENST00000321613.3	-	6	1124	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PHYHIP_ENST00000454243.2_Missense_Mutation_p.A223V	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GTAGAAGTCCGCAAAGTAGAG	0.657																																						uc003xbk.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(667-669)gCg>gTg		Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.							17	22	21					8																	22079191		2022	4164	6186	SO:0001583	missense	9796							g.chr8:22079191G>A	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.668C>T	8.37:g.22079191G>A	ENSP00000320017:p.Ala223Val					PHYHIP_uc003xbj.4_Missense_Mutation_p.A223V	p.A223V	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1362	-			223					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.668C>T	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002564	0.93227	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.37584	1.19;1.19	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.57536	1.79	0.51482	D	0.999925	D	0.63046	0.992	P	0.57720	0.826	T	0.55108	-0.8192	10	0.72032	D	0.01	-31.3231	18.1109	0.89536	0.0:0.0:1.0:0.0	.	223	Q92561	PHYIP_HUMAN	V	223;223;130;175	ENSP00000320017:A223V;ENSP00000415491:A223V	ENSP00000320017:A223V	A	-	2	0	PHYHIP	22135136	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.907000	0.56348	2.580000	0.87095	0.555000	0.69702	GCG		0.657	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		A	22079191	G	A	22079191	3	1	133	1	0	0	0	0	1	0	0	0	11866	1087	38	1	328	1	PHYHIP	8	22079191	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	11688667	22079191	124284831	43	9160											
SULF1	23213	broad.mit.edu	37	chr8	70536309	70536309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaacattgctaagcGtcatgatgaaggccacaagg	16	6	10	9	1	1	3	1	2	0	1	1	3	1	3	2	2	3	1	2	2	5	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70536309G>A	ENST00000260128.4	+	15	2444	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	SULF1_ENST00000402687.4_Missense_Mutation_p.R576H|SULF1_ENST00000458141.2_Missense_Mutation_p.R576H|SULF1_ENST00000419716.3_Missense_Mutation_p.R576H|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	576					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGCTAAGCGTCATGATGAA	0.498																																						uc003xyg.2																			0		p.R576C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1726-1728)cGt>cAt		Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.							76	66	70					8																	70536309		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70536309G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1727G>A	8.37:g.70536309G>A	ENSP00000260128:p.Arg576His					SULF1_uc010lza.1_Missense_Mutation_p.R576H|SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_Non-coding_Transcript	p.R576H	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		13	2288	+	Breast(64;0.0654)		576					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1727G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294545	0.95546	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.78	5.78	0.91487	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.66056	D	0.02	.	20.0119	0.97458	0.0:0.0:1.0:0.0	.	576	Q8IWU6	SULF1_HUMAN	H	576	ENSP00000403040:R576H;ENSP00000260128:R576H;ENSP00000385704:R576H;ENSP00000390315:R576H	ENSP00000260128:R576H	R	+	2	0	SULF1	70698863	1.000000	0.71417	0.988000	0.46212	0.900000	0.52787	9.429000	0.97481	2.706000	0.92434	0.655000	0.94253	CGT		0.498	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		A	70536309	G	A	70536309	3	1	133	1	0	0	0	0	1	0	0	0	15369	1145	40	1	1769	1	SULF1	8	70536309	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	48457118	70536309	75827713	44	9161											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744225	70744225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgttgggggccgaggcGttcaactcttggatctggta	5	11	15	10	4	3	0	1	0	2	0	4	2	3	1	2	5	1	3	2	5	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70744225G>A	ENST00000260126.4	-	2	1390	c.684C>T	c.(682-684)aaC>aaT	p.N228N	RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.N228N|SLCO5A1_ENST00000530307.1_Silent_p.N228N|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGCCGAGGCGTTCAACTCTT	0.637																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(682-684)aaC>aaT		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							27	33	31					8																	70744225		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744225G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.684C>T	8.37:g.70744225G>A						SLCO5A1_uc010lzb.3_Silent_p.N228N|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	p.N228N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		1	1391	-	Breast(64;0.0654)		228					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.684C>T	CCDS6205.1																																																																																				0.637	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		A	70744225	G	A	70744225	2	1	133	1	0	0	0	0	0	0	0	1	14731	1136	40	1		1	SLCO5A1	8	70744225	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	207916	70744225	75619797	45	9162											
KIAA1161	57462	broad.mit.edu	37	chr9	34372688	34372688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcgcgaagtcgctccGccttgcgtagggagacgctg	5	7	15	14	7	0	1	0	0	0	1	3	3	2	1	3	1	1	4	3	1	2	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:34372688G>A	ENST00000297625.7	-	2	377	c.152C>T	c.(151-153)gCg>gTg	p.A51V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	85					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTCGCTCCGCCTTGCGTAG	0.662																																						uc003zue.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(250-252)gCg>gTg		Homo sapiens KIAA1161 (KIAA1161), mRNA.							23	31	28					9																	34372688		2114	4243	6357	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372688G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.152C>T	9.37:g.34372688G>A	ENSP00000297625:p.Ala51Val						p.A84V	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	418	-			85					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.251C>T		.	.	.	.	.	.	.	.	.	.	G	17.15	3.316565	0.60524	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	D;T	0.92249	-3.0;0.94	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92334	0.5876	10	0.28530	T	0.3	-11.3691	17.9064	0.88919	0.0:0.0:1.0:0.0	.	85	Q6NSJ0	K1161_HUMAN	V	51;48	ENSP00000297625:A51V;ENSP00000368437:A48V	ENSP00000297625:A51V	A	-	2	0	KIAA1161	34362688	1.000000	0.71417	0.970000	0.41538	0.834000	0.47266	9.358000	0.97109	2.656000	0.90262	0.561000	0.74099	GCG		0.662	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		A	34372688	G	A	34372688	3	1	133	1	0	0	0	0	1	0	0	0	8211	1087	38	1	1894	1	KIAA1161	9	34372688	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		34372688	106840743	46	9163											
KIAA1539	80256	broad.mit.edu	37	chr9	35108015	35108015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtagtccctctctggccCccagcccagggcctctcttc	3	9	11	18	0	2	0	0	0	2	0	6	0	3	0	5	4	1	1	5	4	1	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:35108015C>T	ENST00000378561.1	-	2	3312	c.257G>A	c.(256-258)gGg>gAg	p.G86E	FAM214B_ENST00000378554.2_Missense_Mutation_p.G86E|FAM214B_ENST00000605244.1_Missense_Mutation_p.G86E|FAM214B_ENST00000378557.1_Missense_Mutation_p.G86E|FAM214B_ENST00000603301.1_Missense_Mutation_p.G86E|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000488109.2_Missense_Mutation_p.G86E|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.G86E			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	86						nucleus (GO:0005634)											CTCTCTGGCCCCCAGCCCAGG	0.637																																						uc003zwl.3																			0											c.(256-258)gGg>gAg		Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.							37	40	39					9																	35108015		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35108015C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.257G>A	9.37:g.35108015C>T	ENSP00000367823:p.Gly86Glu					FAM214B_uc003zwm.3_Missense_Mutation_p.G86E|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Missense_Mutation_p.G86E|FAM214B_uc003zwp.1_Missense_Mutation_p.G86E|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Missense_Mutation_p.G86E	p.G86E	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN			2	582	-			86					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.257G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879421	0.51801	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.71	3.77	0.43336	.	0.306309	0.29178	N	0.012911	T	0.43055	0.1230	L	0.50333	1.59	0.28088	N	0.931902	D	0.59767	0.986	P	0.53266	0.722	T	0.21177	-1.0253	9	0.17369	T	0.5	-7.2852	9.211	0.37318	0.0:0.6704:0.2432:0.0863	.	86	Q7L5A3	K1539_HUMAN	E	86	.	ENSP00000319897:G86E	G	-	2	0	KIAA1539	35098015	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.606000	0.46291	2.455000	0.83008	0.555000	0.69702	GGG		0.637	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		T	35108015	C	T	35108015	3	4	133	1	0	0	0	0	1	0	0	0	8242	623	22	3	1387	3	KIAA1539	9	35108015	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	735327	35108015	106105416	47	9164											
USP20	10868	broad.mit.edu	37	chr9	132625554	132625555	+	Frame_Shift_Del	DEL	TC	TC	-																															caagagctaccagaagctggTctctgaggtctggcataaga																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:132625554_132625555delTC	ENST00000315480.4	+	9	745_746	c.587_588delTC	c.(586-588)gtcfs	p.V196fs	USP20_ENST00000358355.1_Frame_Shift_Del_p.V196fs|USP20_ENST00000372429.3_Frame_Shift_Del_p.V196fs			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	196	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGAAGCTGGTCTCTGAGGTCT	0.589																																						uc004bys.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(586-588)gtcfs		Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132625554_132625555delTC	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.587_588delTC	9.37:g.132625556_132625557delTC	ENSP00000313811:p.Val196fs					USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	p.V196fs	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN			8	798_799	+		Ovarian(14;0.00556)	196					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Frame_Shift_Del	DEL	ENST00000315480.4	37	c.587_588delTC	CCDS43892.1																																																																																				0.589	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			-	132625555	TC	-	132625554	7	5	133	1	0	1	0	1	0	0	0	0	17049	1667	58	0	613	0	USP20	9	132625554	Frame_Shift_Del	DEL	TC	TCGA-14-0817-01A-01W-0424-08	97517539	132625554	8587877	48	9165											
FAM107B	83641	broad.mit.edu	37	chr10	14816316	14816316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccactgcttcacagtccGccccatcatccagggacccg	9	6	7	19	2	2	0	2	0	0	0	4	1	4	1	6	1	1	1	6	1	0	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:14816316G>A	ENST00000181796.2	-	1	580	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCACAGTCCGCCCCATCATC	0.572																																						uc001ina.1																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(346-348)gCg>gTg		Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.							111	101	105					10																	14816316		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816316G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.347C>T	10.37:g.14816316G>A	ENSP00000181796:p.Ala116Val					FAM107B_uc010qbu.1_Non-coding_Transcript	p.A116V	NM_031453	NP_113641	Q9H098	F107B_HUMAN			0	581	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.347C>T	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	8.248	0.808369	0.16467	.	.	ENSG00000065809	ENST00000181796	T	0.48836	0.8	4.77	-0.374	0.12512	.	1.289930	0.05866	N	0.623879	T	0.29190	0.0726	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21381	-1.0247	10	0.44086	T	0.13	-2.641	5.6529	0.17627	0.3948:0.1427:0.4626:0.0	.	116	Q9H098-2	.	V	116	ENSP00000181796:A116V	ENSP00000181796:A116V	A	-	2	0	FAM107B	14856322	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.304000	0.08199	-0.254000	0.09500	-0.211000	0.12701	GCG		0.572	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		A	14816316	G	A	14816316	3	1	133	1	0	0	0	0	1	0	0	0	5390	1087	38	1	593	1	FAM107B	10	14816316	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		14816316	120718431	49	9166											
AGAP5	729092	broad.mit.edu	37	chr10	75434500	75434500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtaccagatcaggagctgtgCcaggaccacattccccttgc	9	8	10	14	0	1	1	1	0	0	1	2	3	2	3	5	2	4	2	5	2	1	3	rs200625197		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:75434500C>T	ENST00000374094.4	-	8	1958	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	RP11-464F9.21_ENST00000607450.1_RNA|AGAP5_ENST00000443782.2_Missense_Mutation_p.A617T|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	640					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						AGGAGCTGTGCCAGGACCACA	0.667																																						uc009xri.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(1918-1920)Gca>Aca		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.							21	17	18					10																	75434500		692	1580	2272	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75434500C>T		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1918G>A	10.37:g.75434500C>T	ENSP00000363207:p.Ala640Thr					AGAP5_uc001juu.4_Missense_Mutation_p.A601T	p.A640T	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			7	1959	-			640					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.1918G>A	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	c	1.667	-0.509980	0.04231	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	T;T	0.66460	-0.21;-0.21	.	.	.	Ankyrin repeat-containing domain (4);	0.557036	0.19599	N	0.110423	T	0.40498	0.1119	N	0.25992	0.78	0.26466	N	0.975352	P	0.34587	0.458	B	0.32342	0.144	T	0.41197	-0.9522	9	0.02654	T	1	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	640	A6NIR3	AGAP5_HUMAN	T	640;617	ENSP00000363207:A640T;ENSP00000402792:A617T	ENSP00000363207:A640T	A	-	1	0	AGAP5	75104506	0.004000	0.15560	0.020000	0.16555	0.020000	0.10135	0.509000	0.22707	0.107000	0.17824	0.109000	0.15622	GCA		0.667	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		T	75434500	C	T	75434500	3	4	133	1	0	0	0	0	1	0	0	0	371	739	26	3	146	3	AGAP5	10	75434500	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	60618184	75434500	60100247	50	9167											
C10orf12	26148	broad.mit.edu	37	chr10	98741767	98741767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagctgccaactgttcGtacactggccagaaatttac	10	12	9	10	1	0	2	0	1	0	1	1	2	0	2	2	1	5	3	2	1	4	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:98741767G>A	ENST00000286067.2	+	1	727	c.620G>A	c.(619-621)cGt>cAt	p.R207H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAACTGTTCGTACACTGGCC	0.433																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(619-621)cGt>cAt		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							92	92	92					10																	98741767		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741767G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.620G>A	10.37:g.98741767G>A	ENSP00000286067:p.Arg207His					C10orf12_uc009xvg.2_Missense_Mutation_p.R517H	p.R207H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	727	+		Colorectal(252;0.172)	207					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.620G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568231	0.86439	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.20598	2.06	6.05	6.05	0.98169	.	0.379178	0.23358	N	0.049052	T	0.36110	0.0955	N	0.24115	0.695	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09422	-1.0675	10	0.87932	D	0	-7.2776	18.7892	0.91966	0.0:0.0:1.0:0.0	.	41;207	A0PJI9;Q8N655	.;CJ012_HUMAN	H	207;41	ENSP00000286067:R207H	ENSP00000286067:R207H	R	+	2	0	C10orf12	98731757	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.337000	0.90036	2.880000	0.98712	0.655000	0.94253	CGT		0.433	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		A	98741767	G	A	98741767	3	1	133	1	0	0	0	0	1	0	0	0	1589	1145	40	1	622	1	C10orf12	10	98741767	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	23307267	98741767	36792980	51	9168											
FANK1	92565	broad.mit.edu	37	chr10	127677132	127677132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctaggggatatgcaacGaagcatgttgttgaaggtct	10	12	13	6	1	2	1	0	1	2	0	2	3	2	2	0	3	3	4	0	3	5	4	rs146192515		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:127677132G>A	ENST00000368693.1	+	3	308	c.204G>A	c.(202-204)acG>acA	p.T68T	FANK1_ENST00000368689.1_Silent_p.T62T|FANK1_ENST00000449042.2_Silent_p.T62T|FANK1_ENST00000368695.1_Silent_p.T62T			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	68	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T68T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATATGCAACGAAGCATGTTG	0.512																																						uc009yan.3																			1	Substitution - coding silent(1)	p.T68T(2)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(202-204)acG>acA		Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.		G		0,4406		0,0,2203	254	232	239		204	-10.1	0	10	dbSNP_134	239	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FANK1	NM_145235.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		68/346	127677132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127677132G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.204G>A	10.37:g.127677132G>A						FANK1_uc010quk.1_Silent_p.T62T|FANK1_uc001ljh.4_Silent_p.T68T|FANK1_uc001lji.3_Silent_p.T62T	p.T68T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			2	308	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	68			Fibronectin type-III.		Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.204G>A	CCDS31309.1																																																																																				0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		A	127677132	G	A	127677132	2	1	133	1	0	0	0	0	0	0	0	1	5672	1045	37	2		2	FANK1	10	127677132	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	28935365	127677132	7857615	52	9169											
INS	3630	broad.mit.edu	37	chr11	2181082	2181082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgcctgcgggctgcgtCtagttgcagtagttctccag	4	11	15	11	2	2	0	0	0	2	0	3	0	2	0	2	2	4	6	2	2	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:2181082C>T	ENST00000397262.1	-	2	565	c.333G>A	c.(331-333)taG>taA	p.*111*	INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000512523.1_Silent_p.*99*|INS_ENST00000250971.3_Silent_p.*111*|INS-IGF2_ENST00000397270.1_Intron|INS_ENST00000381330.4_Silent_p.*111*	NM_001185098.1	NP_001172027.1	P01308	INS_HUMAN	insulin	0					activation of protein kinase B activity (GO:0032148)|acute-phase response (GO:0006953)|alpha-beta T cell activation (GO:0046631)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of fatty acid metabolic process (GO:0045922)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of glycogen catabolic process (GO:0045818)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of protein secretion (GO:0050709)|negative regulation of proteolysis (GO:0045861)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|negative regulation of vasodilation (GO:0045908)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of respiratory burst (GO:0060267)|positive regulation of vasodilation (GO:0045909)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of insulin secretion (GO:0050796)|regulation of protein localization (GO:0032880)|regulation of protein secretion (GO:0050708)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transmembrane transporter activity (GO:0022898)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	endoplasmic reticulum lumen (GO:0005788)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)|identical protein binding (GO:0042802)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protease binding (GO:0002020)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		CGGGCTGCGTCTAGTTGCAGT	0.612																																						uc021qcd.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(331-333)taG>taA		Homo sapiens insulin (INS), transcript variant 3, mRNA.							66	59	61					11																	2181082		2193	4292	6485	SO:0001819	synonymous_variant	3630				glucose metabolic process	extracellular region	hormone activity	g.chr11:2181082C>T	X70508	CCDS7729.1	11p15.5	2014-02-03			ENSG00000254647	ENSG00000254647			6081	protein-coding gene	gene with protein product		176730	"insulin-dependent diabetes mellitus 2"	IDDM2, IDDM1		6243748, 7773291	Standard	NM_000207		Approved			P01308	OTTHUMG00000009558	ENST00000397262.1:c.333G>A	11.37:g.2181082C>T						IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Silent_p.*111*|INS-IGF2_uc001lvn.2_Silent_p.*111*|INS-IGF2_uc009ydg.1_Splice_Site_p.*99_splice	p.*111*	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	1	571	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	0					Q5EEX2	Silent	SNP	ENST00000397262.1	37	c.333G>A	CCDS7729.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466529	0.43839	.	.	ENSG00000254647	ENST00000421783	D	0.98264	-4.83	3.04	3.04	0.35103	.	.	.	.	.	D	0.98403	0.9469	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.99097	1.0842	6	0.87932	D	0	.	13.797	0.63177	0.0:1.0:0.0:0.0	.	.	.	.	N	70	ENSP00000408400:D70N	ENSP00000408400:D70N	D	-	1	0	INS	2137658	0.770000	0.28543	0.892000	0.35008	0.507000	0.33981	1.162000	0.31786	2.007000	0.58848	0.457000	0.33378	GAC		0.612	INS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026395.3	NM_000207		T	2181082	C	T	2181082	2	4	133	1	0	0	0	0	0	0	0	1	7762	924	32	3		3	INS	11	2181082	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08		2181082	132825434	53	9170											
SLC5A12	159963	broad.mit.edu	37	chr11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaactggtttgttgaatcGtagttgtaagtactaaagga	12	13	12	4	2	0	1	0	1	0	0	1	3	0	2	0	2	2	6	0	2	7	7			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:26734241G>A	ENST00000396005.3	-	2	661	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	118					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418																																						uc001mra.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(352-354)Cga>Tga		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.							293	252	266					11																	26734241		2203	4299	6502	SO:0001587	stop_gained	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734241G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.352C>T	11.37:g.26734241G>A	ENSP00000379326:p.Arg118*					SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Nonsense_Mutation_p.R118*	p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			1	665	-			118					Q86UC7	Nonsense_Mutation	SNP	ENST00000396005.3	37	c.352C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	38	7.051641	0.98029	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	.	.	.	5.13	2.86	0.33363	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9722	0.30134	0.0843:0.0:0.5233:0.3924	.	.	.	.	X	118	.	ENSP00000280467:R118X	R	-	1	2	SLC5A12	26690817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.493000	0.45320	1.214000	0.43395	0.655000	0.94253	CGA		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		A	26734241	G	A	26734241	4	1	133	1	0	0	0	0	0	1	0	0	14664	1153	40	1	1560	1	SLC5A12	11	26734241	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	24553159	26734241	108272275	54	9171											
LRRC4C	57689	broad.mit.edu	37	chr11	40135944	40135944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgagtctcttgtacattGtctttagagttcattcggat	8	19	8	6	1	3	2	1	1	2	1	5	3	3	3	0	1	1	2	0	1	2	8			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:40135944G>T	ENST00000278198.2	-	2	3862	c.1899C>A	c.(1897-1899)gaC>gaA	p.D633E	LRRC4C_ENST00000530763.1_Missense_Mutation_p.D633E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D633E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D633E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	633					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTGTACATTGTCTTTAGAGT	0.318																																						uc021qgf.1																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1897-1899)gaC>gaA		Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.							99	91	94					11																	40135944		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40135944G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1899C>A	11.37:g.40135944G>T	ENSP00000278198:p.Asp633Glu					LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxa.1_Missense_Mutation_p.D633E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	p.D633E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			0	1899	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	633					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1899C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	0.623	-0.820213	0.02755	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	N	0.16307	0.4	0.52099	D	0.999943	B	0.13594	0.008	B	0.17979	0.02	T	0.10019	-1.0648	10	0.06891	T	0.86	.	19.7224	0.96148	0.0:0.0:1.0:0.0	.	633	Q9HCJ2	LRC4C_HUMAN	E	633	ENSP00000278198:D633E;ENSP00000436976:D633E;ENSP00000437132:D633E;ENSP00000434761:D633E	ENSP00000278198:D633E	D	-	3	2	LRRC4C	40092520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.906000	0.99361	0.655000	0.94253	GAC		0.318	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		T	40135944	G	T	40135944	3	4	133	1	0	0	0	0	1	0	0	0	9008	1368	48	5	27	5	LRRC4C	11	40135944	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	13401703	40135944	94870572	55	9172											
OR5AR1	219493	broad.mit.edu	37	chr11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcaatcatttcttctgcGaaatcccaccactcttggcc	9	13	4	15	1	6	0	3	0	3	0	7	1	7	0	3	1	1	0	3	1	2	3	rs138342920	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56431699G>A	ENST00000302969.2	+	1	562	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E180K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483													G|||	2	0.000399361	8e-04	0	5008	,	,		21972	0.001		0	False		,,,				2504	0					uc010rjm.2																			1	Substitution - Missense(1)	p.E180K(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(538-540)Gaa>Aaa		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							214	189	197					11																	56431699		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431699G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.538G>A	11.37:g.56431699G>A	ENSP00000302639:p.Glu180Lys					OR8U8_uc001nit.2_Intron	p.E180K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	538	+			180					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.538G>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058017	0.76074	.	.	ENSG00000172459	ENST00000302969	T	0.00202	8.56	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000151	T	0.00468	0.0015	M	0.74467	2.265	0.29430	N	0.859955	D	0.67145	0.996	P	0.60682	0.878	T	0.49011	-0.8983	10	0.87932	D	0	.	13.8882	0.63721	0.0:0.0:0.8473:0.1526	.	180	Q8NGP9	O5AR1_HUMAN	K	180	ENSP00000302639:E180K	ENSP00000302639:E180K	E	+	1	0	OR5AR1	56188275	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.479000	0.53165	2.554000	0.86153	0.573000	0.79308	GAA		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		A	56431699	G	A	56431699	3	1	133	1	0	0	0	0	1	0	0	0	11145	1059	37	2	540	2	OR5AR1	11	56431699	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	16295755	56431699	78574817	56	9173											
OR9G4	283189	broad.mit.edu	37	chr11	56511283	56511283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactatcatgagaagggaaaAtcatcacttagtgttttttc	13	14	8	6	0	3	1	3	1	0	1	4	4	3	2	0	1	0	1	0	1	5	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56511283A>T	ENST00000302957.3	-	1	4	c.5T>A	c.(4-6)aTt>aAt	p.I2N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAAGGGAAAATCATCACTTA	0.383																																						uc010rjo.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(4-6)aTt>aAt		Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.							76	74	75					11																	56511283		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511283A>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.5T>A	11.37:g.56511283A>T	ENSP00000307515:p.Ile2Asn						p.I2N	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			0	5	-			2					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.5T>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519174	0.27211	.	.	ENSG00000172457	ENST00000302957	T	0.00512	6.89	5.14	2.8	0.32819	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.45877	-0.9231	9	0.66056	D	0.02	-0.0596	7.7044	0.28642	0.7504:0.0:0.2496:0.0	.	2	Q8NGQ1	OR9G4_HUMAN	N	2	ENSP00000307515:I2N	ENSP00000307515:I2N	I	-	2	0	OR9G4	56267859	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.037000	0.12164	0.911000	0.36747	0.523000	0.50628	ATT		0.383	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		T	56511283	A	T	56511283	3	4	133	1	0	0	0	0	1	0	0	0	11251	101	4	5	981	5	OR9G4	11	56511283	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	79584	56511283	78495233	57	9174											
OR4D6	219983	broad.mit.edu	37	chr11	59224665	59224665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttttttcatctatcaccGtccccaagttcctggtggat	6	16	7	12	2	3	0	2	0	1	0	6	1	5	1	4	2	0	2	4	2	2	5	rs144983296	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:59224665G>A	ENST00000300127.2	+	1	255	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATCTATCACCGTCCCCAAGTT	0.468													G|||	2	0.000399361	0	0	5008	,	,		20744	0		0.001	False		,,,				2504	0.001					uc010rku.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(232-234)Gtc>Atc		Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.		A	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	138	123	128		232	4.2	0.4	11	dbSNP_134	128	1,8589	1.2+/-3.3	0,1,4294	yes	missense	OR4D6	NM_001004708.1	29	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	benign	78/315	59224665	2,12990	2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224665G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.232G>A	11.37:g.59224665G>A	ENSP00000300127:p.Val78Ile						p.V78I	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			0	232	+			78					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.232G>A	CCDS31562.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.26	1.302401	0.23736	2.27E-4	1.16E-4	ENSG00000166884	ENST00000300127	T	0.02787	4.16	6.01	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.428856	0.19776	N	0.106325	T	0.02929	0.0087	L	0.42581	1.335	0.09310	N	1	B	0.27679	0.185	B	0.16722	0.016	T	0.42103	-0.9471	10	0.66056	D	0.02	-15.2143	5.2595	0.15565	0.2215:0.0:0.635:0.1435	.	78	Q8NGJ1	OR4D6_HUMAN	I	78	ENSP00000300127:V78I	ENSP00000300127:V78I	V	+	1	0	OR4D6	58981241	0.000000	0.05858	0.410000	0.26471	0.539000	0.34962	0.272000	0.18644	0.891000	0.36235	-0.119000	0.15052	GTC		0.468	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		A	59224665	G	A	59224665	3	1	133	1	0	0	0	0	1	0	0	0	11058	1145	40	1	234	1	OR4D6	11	59224665	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	2713382	59224665	75781851	58	9175											
ARHGEF17	9828	broad.mit.edu	37	chr11	73073628	73073628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatctccattgcaggctcGggcttggagatgacgccggg	7	8	14	12	3	1	2	0	1	1	1	3	3	1	2	2	4	1	3	2	4	0	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:73073628G>A	ENST00000263674.3	+	14	5195	c.4845G>A	c.(4843-4845)tcG>tcA	p.S1615S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1615					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTGCAGGCTCGGGCTTGGAGA	0.706																																						uc001otu.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4843-4845)tcG>tcA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.							14	19	17					11																	73073628		2188	4277	6465	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73073628G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4845G>A	11.37:g.73073628G>A							p.S1615S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			13	4866	+			1615					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4845G>A	CCDS8221.1																																																																																				0.706	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73073628	G	A	73073628	2	1	133	1	0	0	0	0	0	0	0	1	900	1103	39	2		2	ARHGEF17	11	73073628	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	13848963	73073628	61932888	59	9176											
ODZ4	26011	broad.mit.edu	37	chr11	78383335	78383335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttctctgtgcgtgttaCgcgatcaaagtccagagata	10	12	10	9	3	3	1	1	0	2	1	5	4	4	1	1	0	2	1	1	0	3	3	rs567221953	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:78383335C>T	ENST00000278550.7	-	31	5998	c.5536G>A	c.(5536-5538)Gta>Ata	p.V1846I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1846					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTGCGTGTTACGCGATCAAAG	0.512													C|||	3	0.000599042	0	0	5008	,	,		23081	0		0	False		,,,				2504	0.0031					uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5536-5538)Gta>Ata		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							92	91	91					11																	78383335		1950	4158	6108	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78383335C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5536G>A	11.37:g.78383335C>T	ENSP00000278550:p.Val1846Ile					ODZ4_uc001ozk.4_Missense_Mutation_p.V71I	p.V1846I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			30	5999	-			1846					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5536G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588723	0.28357	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89617	-2.54;0.95	5.65	5.65	0.86999	.	0.063317	0.64402	D	0.000006	T	0.82226	0.4991	N	0.19112	0.55	0.48571	D	0.999679	B	0.16166	0.016	B	0.06405	0.002	T	0.75130	-0.3426	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1846	Q6N022	TEN4_HUMAN	I	1846;310	ENSP00000278550:V1846I;ENSP00000431711:V310I	.	V	-	1	0	ODZ4	78060983	0.995000	0.38212	0.842000	0.33263	0.069000	0.16628	2.998000	0.49465	2.941000	0.99782	0.655000	0.94253	GTA		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78383335	C	T	78383335	3	4	133	1	0	0	0	0	1	0	0	0	10837	536	19	1	2789	1	ODZ4	11	78383335	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	5309707	78383335	56623181	60	9177											
PZP	5858	broad.mit.edu	37	chr12	9346769	9346769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggagtaataattggcGtcattcacagagatgaagaa	15	10	11	5	1	2	3	2	1	0	2	2	5	2	4	0	2	0	2	0	2	4	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:9346769G>A	ENST00000261336.2	-	11	1186	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	PZP_ENST00000381997.2_Silent_p.D255D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	386					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATAATTGGCGTCATTCACAG	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		-128	0		0	False		,,,				2504	0				Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1156-1158)gaC>gaT		Homo sapiens pregnancy-zone protein (PZP), mRNA.							180	170	173					12																	9346769		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9346769G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1158C>T	12.37:g.9346769G>A						PZP_uc009zgl.3_Silent_p.D255D	p.D386D	NM_002864	NP_002855					10	1187	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1158C>T	CCDS8600.1																																																																																				0.408	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9346769	G	A	9346769	2	1	133	1	0	0	0	0	0	0	0	1	12869	1136	40	1		1	PZP	12	9346769	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		9346769	124505126	61	9178											
RBM19	9904	broad.mit.edu	37	chr12	114377904	114377904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcctgcagctgggccGccagggtgcctgccgggagg	4	6	18	13	2	1	0	0	0	1	0	2	1	1	1	5	5	4	2	5	5	0	0	rs376588204		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:114377904G>A	ENST00000545145.2	-	15	1877	c.1799C>T	c.(1798-1800)gCg>gTg	p.A600V	RBM19_ENST00000392561.3_Missense_Mutation_p.A600V|RBM19_ENST00000261741.5_Missense_Mutation_p.A600V|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	600	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGCTGGGCCGCCAGGGTGCC	0.627																																						uc009zwi.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1798-1800)gCg>gTg		Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	72	77	75		1799,1799,1799	1.5	0.2	12		75	0,8600		0,0,4300	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	600/961,600/961,600/961	114377904	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377904G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1799C>T	12.37:g.114377904G>A	ENSP00000442053:p.Ala600Val					RBM19_uc001tvn.4_Missense_Mutation_p.A600V|RBM19_uc001tvm.3_Missense_Mutation_p.A600V	p.A600V	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN			14	1943	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		600			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1799C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320851	0.01320	2.27E-4	0.0	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08008	3.14;3.14;3.14	4.3	1.45	0.22620	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.531595	0.20007	N	0.101212	T	0.03783	0.0107	N	0.04805	-0.155	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.44937	-0.9295	10	0.22109	T	0.4	-15.3656	9.5271	0.39171	0.235:0.0:0.765:0.0	.	600	Q9Y4C8	RBM19_HUMAN	V	600	ENSP00000442053:A600V;ENSP00000376344:A600V;ENSP00000261741:A600V	ENSP00000261741:A600V	A	-	2	0	RBM19	112862287	0.002000	0.14202	0.224000	0.23877	0.089000	0.18198	1.245000	0.32790	0.013000	0.14918	-1.051000	0.02340	GCG		0.627	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		A	114377904	G	A	114377904	3	1	133	1	0	0	0	0	1	0	0	0	13121	1087	38	1	1123	1	RBM19	12	114377904	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	105031135	114377904	19473991	62	9179											
SLC7A8	23428	broad.mit.edu	37	chr14	23600746	23600746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgggaaggtggccctctCgggctccagcgaagaacagc	9	5	14	13	2	1	1	0	0	1	1	3	3	2	2	2	4	3	1	2	4	3	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:23600746C>T	ENST00000316902.7	-	8	1762	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SLC7A8_ENST00000422941.2_Missense_Mutation_p.R122Q|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R143Q|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R241Q|SLC7A8_ENST00000469263.1_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	346					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTGGCCCTCTCGGGCTCCAGC	0.592																																						uc001wiz.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(1036-1038)cGa>cAa		Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						98	80	86					14																	23600746		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23600746C>T	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1037G>A	14.37:g.23600746C>T	ENSP00000320378:p.Arg346Gln					SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.2_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.2_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	p.R346Q	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	7	1763	-	all_cancers(95;4.6e-05)		346					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.1037G>A	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396809	0.96009	.	.	ENSG00000092068	ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.17	5.17	0.71159	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.71871	2.18	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.989;0.989;0.994	D	0.94830	0.7995	10	0.54805	T	0.06	.	17.4585	0.87614	0.0:1.0:0.0:0.0	.	241;122;346	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	Q	346;143;241;122;143	ENSP00000320378:R346Q;ENSP00000391577:R143Q;ENSP00000434345:R241Q;ENSP00000416398:R122Q	ENSP00000206514:R143Q	R	-	2	0	SLC7A8	22670586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.553000	0.82203	2.407000	0.81776	0.557000	0.71058	CGA		0.592	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			T	23600746	C	T	23600746	3	4	133	1	0	0	0	0	1	0	0	0	14704	884	31	2	586	2	SLC7A8	14	23600746	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		23600746	83748794	63	9180											
SPTB	6710	broad.mit.edu	37	chr14	65261276	65261276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttccatcaacttgtgcttCtgtagcaggtcttcaacctc	7	14	7	13	0	4	0	2	0	2	0	6	0	5	0	2	1	4	4	2	1	3	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:65261276C>T	ENST00000389721.5	-	12	1736	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	SPTB_ENST00000556626.1_Silent_p.Q568Q|SPTB_ENST00000542895.1_Silent_p.Q568Q|SPTB_ENST00000389720.3_Silent_p.Q568Q|SPTB_ENST00000389722.3_Silent_p.Q568Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	568					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTTGTGCTTCTGTAGCAGGT	0.522																																						uc001xht.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1702-1704)caG>caA		Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.							207	192	197					14																	65261276		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65261276C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1704G>A	14.37:g.65261276C>T						SPTB_uc001xhr.3_Silent_p.Q568Q|SPTB_uc001xhs.3_Silent_p.Q568Q|SPTB_uc001xhu.3_Silent_p.Q568Q	p.Q568Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	11	1755	-		all_lung(585;4.15e-09)	568					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.1704G>A	CCDS32100.1																																																																																				0.522	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65261276	C	T	65261276	2	4	133	1	0	0	0	0	0	0	0	1	15117	912	32	3		3	SPTB	14	65261276	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	41660530	65261276	42088264	64	9181											
EXD2	55218	broad.mit.edu	37	chr14	69702870	69702870	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggacaaaggcattggtgGtatgagattcagctgtcctt	9	12	12	8	0	1	1	1	1	0	1	2	3	2	2	2	4	1	3	2	4	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:69702870G>T	ENST00000409018.3	+	6	1284		c.e6+1		EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000409014.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000312994.5_Splice_Site|EXD2_ENST00000409675.1_Splice_Site	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCATTGGTGGTATGAGATTC	0.478																																						uc001xky.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.e7+1		Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.							119	116	117					14																	69702870		2203	4300	6503	SO:0001630	splice_region_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69702870G>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1156+1G>T	14.37:g.69702870G>T						EXD2_uc001xkt.3_Splice_Site_p.E261_splice|EXD2_uc001xkv.3_Splice_Site_p.E386_splice|EXD2_uc001xkw.3_Splice_Site_p.E261_splice|EXD2_uc001xku.3_Splice_Site_p.E131_splice|EXD2_uc001xkx.3_Splice_Site_p.E261_splice|EXD2_uc010aqt.3_Splice_Site_p.E386_splice|EXD2_uc010tte.2_Splice_Site_p.E386_splice	p.E386_splice	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN			7	1402	+			261					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Splice_Site	SNP	ENST00000409018.3	37	c.1156_splice	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751776	0.69533	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXD2	68772623	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	7.718000	0.84743	2.894000	0.99253	0.591000	0.81541	.		0.478	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		Intron	T	69702870	G	T	69702870	5	4	133	1	0	0	0	0	0	0	1	0	5298	1275	44	5	796	5	EXD2	14	69702870	Splice_Site	SNP	G	TCGA-14-0817-01A-01W-0424-08	4441594	69702870	37646670	65	9182											
CAPN3	825	broad.mit.edu	37	chr15	42700426	42700426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatcatcttcgtttcGgacagagcaaacagcaacaa	14	7	7	13	2	2	1	1	0	1	1	4	2	2	2	1	1	5	3	1	1	3	2	rs28364528		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:42700426G>A	ENST00000397163.3	+	16	2037	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.S513S|CAPN3_ENST00000397200.4_Silent_p.S94S|CAPN3_ENST00000318023.7_Silent_p.S600S|CAPN3_ENST00000569136.1_5'UTR|CAPN3_ENST00000561817.1_Intron|CAPN3_ENST00000357568.3_Silent_p.S600S|CAPN3_ENST00000337571.4_Intron|CAPN3_ENST00000397204.4_Intron|CAPN3_ENST00000349748.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	606	Linker.		S -> L (in LGMD2A; dbSNP:rs199806879).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCTTCGTTTCGGACAGAGCAA	0.552													g|||	1	0.000199681	8e-04	0	5008	,	,		20783	0		0	False		,,,				2504	0					uc001zpn.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1816-1818)tcG>tcA		Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.		A	,,,,,	3,4403	6.2+/-15.9	0,3,2200	81	71	74		1818,1800,,282,,	-2.9	1	15	dbSNP_125	74	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1,NM_173089.1,NM_173090.1	,,,,,	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	,,,,,	606/822,600/816,,94/310,,	42700426	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42700426G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1818G>A	15.37:g.42700426G>A						CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	p.S606S	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	15	2124	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	606		S -> L (in LGMD2A).	Linker.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.1818G>A	CCDS45245.1																																																																																				0.552	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42700426	G	A	42700426	2	1	133	1	0	0	0	0	0	0	0	1	2628	1103	39	2		2	CAPN3	15	42700426	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		42700426	59830966	66	9183											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954655	72954655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaacagctacaagatgagGccaaacacctgaggcaggag	15	4	13	9	0	0	3	0	2	0	1	0	5	0	5	2	4	4	2	2	4	4	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:72954655G>A	ENST00000421285.3	+	11	910	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	304						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACAAGATGAGGCCAAACACCT	0.542																																						uc010uks.1																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(910-912)Gcc>Acc		Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.							16	17	17					15																	72954655		1821	3639	5460	SO:0001583	missense	55889							g.chr15:72954655G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.910G>A	15.37:g.72954655G>A	ENSP00000408132:p.Ala304Thr					DQ588973_uc021spx.1_5'Flank	p.A304T	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			10	951	+			304					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.910G>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	8.295	0.818632	0.16607	.	.	ENSG00000215186	ENST00000421285	T	0.23147	1.92	0.69	-0.549	0.11829	.	.	.	.	.	T	0.26011	0.0634	N	0.25332	0.735	0.09310	N	1	D	0.60575	0.988	P	0.62885	0.908	T	0.21042	-1.0257	9	0.20046	T	0.44	.	4.8573	0.13566	0.278:0.0:0.722:0.0	.	304	A6NDN3	GOG6B_HUMAN	T	304	ENSP00000408132:A304T	ENSP00000408132:A304T	A	+	1	0	GOLGA6B	70741709	0.998000	0.40836	0.001000	0.08648	0.120000	0.20174	1.475000	0.35409	-0.179000	0.10654	0.089000	0.15464	GCC		0.542	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		A	72954655	G	A	72954655	3	1	133	1	0	0	0	0	1	0	0	0	6558	1203	42	3	952	3	GOLGA6B	15	72954655	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	30254229	72954655	29576737	67	9184											
ACAN	176	broad.mit.edu	37	chr15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccccattgtgagccccCggaccccatgcgtgggtgac	7	7	12	15	2	0	2	0	2	0	0	0	4	0	3	6	2	3	0	6	2	1	2	rs143697605		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000558207.1_Missense_Mutation_p.R542W|ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000559004.1_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R542W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		11533	0		0	False		,,,				2504	0					uc010upo.1																			1	Substitution - Missense(1)	p.R542W(2)|p.P541P(1)	large_intestine(1)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1624-1626)Cgg>Tgg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							72	75	74					15																	89391161		1949	4147	6096	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391161C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp					ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	p.R542W	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		8	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		542					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1624C>T	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89391161	C	T	89391161	3	4	133	1	0	0	0	0	1	0	0	0	117	643	23	2	1654	2	ACAN	15	89391161	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	16436506	89391161	13140231	68	9185											
ACAN	176	broad.mit.edu	37	chr15	89401858	89401858	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgccagcaccaccaatgtAagtggagaatcctctgtagc	11	10	9	11	0	1	1	0	0	1	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89401858A>G	ENST00000561243.1	+	11	6042	c.6042A>G	c.(6040-6042)gtA>gtG	p.V2014V	ACAN_ENST00000439576.2_Silent_p.V2014V|ACAN_ENST00000559004.1_Silent_p.V2014V|ACAN_ENST00000352105.7_Silent_p.V2014V			P16112	PGCA_HUMAN	aggrecan	2024	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCACCAATGTAAGTGGAGAAT	0.522																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6040-6042)gtA>gtG		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							42	43	42					15																	89401858		1874	4108	5982	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401858A>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6042A>G	15.37:g.89401858A>G						ACAN_uc010upp.1_Silent_p.V2014V|ACAN_uc002bna.2_Non-coding_Transcript	p.V2014V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		11	6416	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2014					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6042A>G	CCDS53970.1																																																																																				0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		G	89401858	A	G	89401858	2	3	133	1	0	0	0	0	0	0	0	1	117	349	13	4		4	ACAN	15	89401858	Silent	SNP	A	TCGA-14-0817-01A-01W-0424-08	10697	89401858	13129534	69	9186											
TP53	7157	broad.mit.edu	37	chr17	7578264	7578268	+	Frame_Shift_Del	DEL	GATAA	GATAA	-																															cgcaaatttccttccactcgGataagatgctgaggaggggc																								rs370216745		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:7578264_7578268delGATAA	ENST00000269305.4	-	6	770_774	c.581_585delTTATC	c.(580-585)cttatcfs	p.LI194fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.LI194fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.LI194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.LI194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.LI194fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.LI194fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.L194R(47)|p.I195F(20)|p.I195N(12)|p.I195S(10)|p.L194P(8)|p.0?(8)|p.L194H(8)|p.R196*(7)|p.I195fs*14(6)|p.?(6)|p.I195fs*52(5)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I195M(3)|p.P191fs*53(2)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.L101H(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.I102M(1)|p.I102F(1)|p.I63F(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.I63M(1)|p.I195L(1)|p.L194fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTCCACTCGGATAAGATGCTGAGG	0.551		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		263	Substitution - Missense(202)|Deletion - Frameshift(14)|Insertion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(6)|Substitution - coding silent(4)|Complex - frameshift(1)	p.I195T(136)|p.L194R(84)|p.H193R(72)|p.I195F(38)|p.H193L(35)|p.H193Y(27)|p.I195N(24)|p.L194F(18)|p.L194P(16)|p.I195S(16)|p.H193P(14)|p.L194H(14)|p.I195fs*14(10)|p.H193D(9)|p.I195fs*52(9)|p.L194L(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.R196*(7)|p.?(6)|p.L101R(5)|p.L62R(5)|p.P191_E198>Q(4)|p.I195M(4)|p.H193N(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.P191fs*53(2)|p.L194fs*14(2)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.I102T(2)|p.H193H(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.L101H(1)|p.I63fs*14(1)|p.I102M(1)|p.I102F(1)|p.I63F(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.L194I(1)|p.I63M(1)	ovary(51)|breast(39)|lung(34)|large_intestine(30)|haematopoietic_and_lymphoid_tissue(15)|upper_aerodigestive_tract(13)|oesophagus(13)|biliary_tract(12)|skin(12)|urinary_tract(9)|central_nervous_system(8)|stomach(6)|liver(6)|bone(4)|pancreas(4)|endometrium(3)|soft_tissue(2)|eye(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(580-585)cttatcfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578264_7578268delGATAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581_585delTTATC	17.37:g.7578264_7578268delGATAA	ENSP00000269305:p.Leu194fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.3_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.2_Frame_Shift_Del_p.L155fs|DL476358_uc021tph.1_3'UTR	p.L194fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	775_779	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.581_585delTTATC	CCDS11118.1																																																																																				0.551	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578268	GATAA	-	7578264	7	5	133	1	0	1	0	1	0	0	0	0	16378	1164	41	0	709	0	TP53	17	7578264	Frame_Shift_Del	DEL	GATAA	TCGA-14-0817-01A-01W-0424-08		7578264	73616946	70	9187											
MYH2	4620	broad.mit.edu	37	chr17	10447064	10447064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcctcacggtcttggcGttgccaaaggcctccagtag	7	11	10	13	2	3	0	2	0	1	0	5	0	5	0	4	3	1	2	4	3	2	4	rs201018335		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:10447064G>A	ENST00000245503.5	-	8	1089	c.705C>T	c.(703-705)aaC>aaT	p.N235N	MYH2_ENST00000532183.2_Silent_p.N235N|MYH2_ENST00000397183.2_Silent_p.N235N|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	235	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGTCTTGGCGTTGCCAAAGG	0.478																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(703-705)aaC>aaT		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							84	84	84					17																	10447064		2203	4297	6500	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447064G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.705C>T	17.37:g.10447064G>A						AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N235N|MYH2_uc010coj.3_Silent_p.N235N	p.N235N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			7	833	-			235			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.705C>T	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10447064	G	A	10447064	2	1	133	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10447064	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	2868800	10447064	70748146	71	9188											
HOXB3	3213	broad.mit.edu	37	chr17	46628102	46628102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgcgtaggcattctggtggGctttaccgaaggcgggtggg	5	9	19	8	4	1	0	0	0	1	0	1	1	1	0	1	6	1	3	1	6	3	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:46628102G>A	ENST00000470495.1	-	2	2337	c.890C>T	c.(889-891)gCc>gTc	p.A297V	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A165V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A224V|HOXB3_ENST00000311626.4_Missense_Mutation_p.A297V|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.A165V|HOXB3_ENST00000472863.1_Missense_Mutation_p.A224V|HOXB3_ENST00000476342.1_Missense_Mutation_p.A297V|HOXB3_ENST00000498678.1_Missense_Mutation_p.A297V|HOXB3_ENST00000490677.1_Missense_Mutation_p.A163V			P14651	HXB3_HUMAN	homeobox B3	297					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTGGTGGGCTTTACCGAA	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002inn.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(889-891)gCc>gTc		Homo sapiens homeobox B3 (HOXB3), mRNA.							62	75	70					17																	46628102		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628102G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.890C>T	17.37:g.46628102G>A	ENSP00000417207:p.Ala297Val		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_uc010wlm.2_Missense_Mutation_p.A224V|HOXB3_uc010dbf.3_Missense_Mutation_p.A297V|HOXB3_uc010dbg.3_Missense_Mutation_p.A297V|HOXB3_uc002ino.3_Missense_Mutation_p.A297V|HOXB3_uc010wlk.2_Missense_Mutation_p.A165V|HOXB3_uc010wll.2_Missense_Mutation_p.A224V	p.A297V	NM_002146	NP_002137	P14651	HXB3_HUMAN			1	1290	-			297					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.890C>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911086	0.52439	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	3.79	1.66	0.24008	.	0.327754	0.32301	N	0.006300	T	0.76535	0.4001	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.19148	0.024	T	0.70146	-0.4952	10	0.72032	D	0.01	.	13.3139	0.60397	0.0:0.3158:0.6842:0.0	.	297	P14651	HXB3_HUMAN	V	297;224;297;297;163;165;165;224;297	ENSP00000417207:A297V;ENSP00000419676:A224V;ENSP00000308252:A297V;ENSP00000420595:A297V;ENSP00000449977:A163V;ENSP00000418035:A165V;ENSP00000438747:A165V;ENSP00000418729:A224V;ENSP00000418892:A297V	ENSP00000308252:A297V	A	-	2	0	HOXB3	43983101	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.408000	0.59761	0.351000	0.24027	0.455000	0.32223	GCC		0.672	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			A	46628102	G	A	46628102	3	1	133	1	0	0	0	0	1	0	0	0	7302	1203	42	3	409	3	HOXB3	17	46628102	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	36181038	46628102	34567108	72	9189											
EPB41L3	23136	broad.mit.edu	37	chr18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtttattcgcagccGgtcgcgatatatcaacagac	12	11	8	10	4	2	1	1	0	1	1	4	2	2	1	1	1	2	2	1	1	5	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:5428401G>A	ENST00000341928.2	-	9	1316	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R326W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R326W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R326W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418																																						uc002kmt.1																			1	Substitution - coding silent(1)	p.R326R(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(976-978)Cgg>Tgg		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							140	144	143					18																	5428401		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428401G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>T	18.37:g.5428401G>A	ENSP00000343158:p.Arg326Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	p.R326W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			8	1062	-			326			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.976C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916452	0.73098	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;T;D;D;D	0.87412	-2.25;-1.41;-2.25;-2.25;-2.25	5.31	3.28	0.37604	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.048246	0.85682	D	0.000000	D	0.92485	0.7614	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.968;0.975;0.942;0.987	D	0.93109	0.6515	10	0.87932	D	0	.	12.9628	0.58468	0.0:0.0:0.5501:0.4498	.	326;326;217;326;326	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	W	326;217;326;217;326;326	ENSP00000343158:R326W;ENSP00000442091:R217W;ENSP00000441174:R326W;ENSP00000341138:R326W;ENSP00000382981:R326W	ENSP00000343158:R326W	R	-	1	2	EPB41L3	5418401	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	2.596000	0.46205	1.190000	0.43042	0.655000	0.94253	CGG		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5428401	G	A	5428401	3	1	133	1	0	0	0	0	1	0	0	0	5154	1115	39	2	2343	2	EPB41L3	18	5428401	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		5428401	72648847	73	9190											
DSG3	1830	broad.mit.edu	37	chr18	29038467	29038467	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctctggagtgggaatCgatcagccgccttttggaat	9	11	12	9	3	2	0	1	0	1	0	4	5	2	3	2	3	1	0	2	3	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:29038467C>A	ENST00000257189.4	+	4	359	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGTGGGAATCGATCAGCCGC	0.438																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(274-276)atC>atA		Homo sapiens desmoglein 3 (DSG3), mRNA.							103	102	103					18																	29038467		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29038467C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.276C>A	18.37:g.29038467C>A							p.I92I	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		3	385	+			92			Cadherin 1.		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.276C>A	CCDS11898.1																																																																																				0.438	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29038467	C	A	29038467	2	1	133	1	0	0	0	0	0	0	0	1	4778	874	31	5		5	DSG3	18	29038467	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	23610066	29038467	49038781	74	9191											
QTRT1	81890	broad.mit.edu	37	chr19	10823297	10823297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactgcgtcttccccacacGgacagcggtgaggctctggc	6	7	13	15	4	2	1	0	1	2	0	3	3	3	2	2	4	2	1	2	4	0	1	rs548731555		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr19:10823297G>A	ENST00000250237.5	+	7	864	c.854G>A	c.(853-855)cGg>cAg	p.R285Q		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	285					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TTCCCCACACGGACAGCGGTG	0.632																																						uc002mpr.3																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(853-855)cGg>cAg		Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.							113	104	107					19																	10823297		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823297G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.854G>A	19.37:g.10823297G>A	ENSP00000250237:p.Arg285Gln					DNM2_uc010dxk.2_5'Flank	p.R285Q	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		6	879	+			285					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.854G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934558	0.92458	.	.	ENSG00000213339	ENST00000250237	.	.	.	3.77	3.77	0.43336	.	0.000000	0.64402	U	0.000002	D	0.85427	0.5694	M	0.93507	3.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89690	0.3897	9	0.87932	D	0	-6.3549	14.5061	0.67752	0.0:0.0:1.0:0.0	.	285	Q9BXR0	TGT_HUMAN	Q	285	.	ENSP00000250237:R285Q	R	+	2	0	QTRT1	10684297	1.000000	0.71417	0.915000	0.36163	0.904000	0.53231	8.739000	0.91574	1.938000	0.56188	0.462000	0.41574	CGG		0.632	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		A	10823297	G	A	10823297	3	1	133	1	0	0	0	0	1	0	0	0	12885	1116	39	2	880	2	QTRT1	19	10823297	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		10823297	48305686	75	9192											
PLCB4	5332	broad.mit.edu	37	chr20	9370528	9370528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttgtttttaaaggaTgtaattcaagccatcaagga	12	18	7	4	0	2	0	2	0	0	0	2	2	2	2	1	2	1	2	1	2	5	9			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:9370528T>C	ENST00000378493.1	+	13	1176	c.1161T>C	c.(1159-1161)gaT>gaC	p.D387D	PLCB4_ENST00000378473.3_Silent_p.D387D|PLCB4_ENST00000414679.2_Silent_p.D387D|PLCB4_ENST00000334005.3_Silent_p.D387D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.D387D|PLCB4_ENST00000378501.2_Silent_p.D387D			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333																																						uc021wam.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1159-1161)gaT>gaC		Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.							90	88	89					20																	9370528		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9370528T>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1161T>C	20.37:g.9370528T>C						PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.3_Silent_p.D387D|PLCB4_uc021wal.1_Silent_p.D387D|PLCB4_uc002wnh.3_Silent_p.D234D	p.D387D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN			12	1176	+			387			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.1161T>C	CCDS13105.1																																																																																				0.333	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			C	9370528	T	C	9370528	2	2	133	1	0	0	0	0	0	0	0	1	12030	1461	51	4		4	PLCB4	20	9370528	Silent	SNP	T	TCGA-14-0817-01A-01W-0424-08		9370528	53654992	76	9193											
WFDC3	140686	broad.mit.edu	37	chr20	44417585	44417585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacccttaggaatgtctcGgcagatccgaccacagcctg	10	8	9	14	2	1	1	0	0	1	1	3	3	2	2	4	2	2	1	4	2	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:44417585G>A	ENST00000243938.4	-	3	279	c.196C>T	c.(196-198)Cga>Tga	p.R66*	WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372632.2_Nonsense_Mutation_p.R66*|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000372630.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	66	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGAATGTCTCGGCAGATCCGA	0.527																																						uc002xpf.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(196-198)Cga>Tga		Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.							211	194	200					20																	44417585		2203	4300	6503	SO:0001587	stop_gained	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417585G>A	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"WAP four-disulfide core domain containing"	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.196C>T	20.37:g.44417585G>A	ENSP00000243938:p.Arg66*					DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	p.R66*	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			2	280	-		Myeloproliferative disorder(115;0.0122)	66			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Nonsense_Mutation	SNP	ENST00000243938.4	37	c.196C>T	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126167	0.56721	.	.	ENSG00000124116	ENST00000243938;ENST00000372632	.	.	.	4.11	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0389	6.0421	0.19740	0.4915:0.0:0.5085:0.0	.	.	.	.	X	66	.	ENSP00000243938:R66X	R	-	1	2	WFDC3	43850992	0.008000	0.16893	0.113000	0.21522	0.730000	0.41778	-0.236000	0.09003	0.109000	0.17891	-0.126000	0.14955	CGA		0.527	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			A	44417585	G	A	44417585	4	1	133	1	0	0	0	0	0	1	0	0	17350	1124	39	2	519	2	WFDC3	20	44417585	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	35047057	44417585	18607935	77	9194											
ZBP1	81030	broad.mit.edu	37	chr20	56191402	56191402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactttcaactccttttTcattcggtagaggacttggt	8	15	10	8	1	2	2	2	0	0	2	4	4	3	3	1	4	1	1	1	4	2	6			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:56191402T>G	ENST00000371173.3	-	2	334	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Missense_Mutation_p.K53Q|ZBP1_ENST00000340462.4_Missense_Mutation_p.K53Q|ZBP1_ENST00000541799.1_Missense_Mutation_p.K53Q	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	53			K -> R (in dbSNP:rs35895307).		innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AACTCCTTTTTCATTCGGTAG	0.597																																						uc002xyo.3																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(157-159)Aaa>Caa		Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.							184	171	175					20																	56191402		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56191402T>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.157A>C	20.37:g.56191402T>G	ENSP00000360215:p.Lys53Gln					ZBP1_uc010gjm.3_Missense_Mutation_p.K53Q|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.K53Q	p.K53Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		1	438	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		53		K -> R (in dbSNP:rs35895307).			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.157A>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	7.707	0.694355	0.15039	.	.	ENSG00000124256	ENST00000371173;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	3.63	-7.27	0.01461	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.992260	0.02383	N	0.078993	T	0.36331	0.0963	L	0.32530	0.975	0.09310	N	1	B;B;B	0.16396	0.013;0.017;0.017	B;B;B	0.21546	0.021;0.035;0.035	T	0.37126	-0.9719	10	0.62326	D	0.03	-1.9511	9.1339	0.36861	0.0:0.1592:0.5399:0.3009	.	53;53;53	F5GYT1;A2RRL9;Q9H171	.;.;ZBP1_HUMAN	Q	53	ENSP00000360215:K53Q;ENSP00000344954:K53Q;ENSP00000340584:K53Q;ENSP00000440552:K53Q	ENSP00000344954:K53Q	K	-	1	0	ZBP1	55624808	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.608000	0.05641	-2.426000	0.00560	-1.788000	0.00630	AAA		0.597	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		G	56191402	T	G	56191402	3	3	133	1	0	0	0	0	1	0	0	0	17518	1792	62	5	1237	5	ZBP1	20	56191402	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08	11773817	56191402	6834118	78	9195											
RIPK4	54101	broad.mit.edu	37	chr21	43161460	43161460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccagcaggctgcagacGttgacgtcggagcacaggtc	8	7	15	11	3	0	2	0	1	0	1	2	3	0	3	1	3	4	5	1	3	0	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr21:43161460G>A	ENST00000352483.2	-	9	2101	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.N631N|RIPK4_ENST00000544709.1_Silent_p.N568N|RIPK4_ENST00000542057.1_Silent_p.N568N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	679					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697																																						uc002yzn.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1891-1893)aaC>aaT		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							52	55	54					21																	43161460		2201	4298	6499	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161460G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2037C>T	21.37:g.43161460G>A							p.N631N	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1941	-			631					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1893C>T		.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041658	0.02013	.	.	ENSG00000183421	ENST00000330470	.	.	.	4.75	-1.13	0.09775	.	.	.	.	.	T	0.67571	0.2907	.	.	.	0.48341	D	0.999633	.	.	.	.	.	.	T	0.66791	-0.5834	5	0.62326	D	0.03	-25.4646	11.0454	0.47855	0.2809:0.0:0.7191:0.0	.	.	.	.	C	368	.	ENSP00000330975:R368C	R	-	1	0	RIPK4	42034529	0.262000	0.24073	0.004000	0.12327	0.071000	0.16799	0.600000	0.24104	-0.550000	0.06183	-1.170000	0.01741	CGT		0.697	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43161460	G	A	43161460	2	1	133	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161460	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		43161460	4968435	79	9196											
MCM5	4174	broad.mit.edu	37	chr22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacgaggggcaggcccGcaaatcgcagctgcagaggc	9	2	17	13	4	0	1	0	0	0	1	1	3	0	1	2	5	2	5	2	5	1	0	rs367630495		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647																																						uc003anu.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(79-81)cGc>cAc		Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.							37	42	40					22																	35796511		2203	4299	6502	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35796511G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.80G>A	22.37:g.35796511G>A	ENSP00000216122:p.Arg27His					MCM5_uc003anv.4_Missense_Mutation_p.R27H	p.R27H	NM_006739	NP_006730	P33992	MCM5_HUMAN			1	174	+			27					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.80G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874705	0.72180	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.19;3.84;1.5	5.08	5.08	0.68730	.	0.420814	0.26563	N	0.023669	T	0.14787	0.0357	N	0.03608	-0.345	0.41628	D	0.989009	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-21.2565	11.5797	0.50883	0.0832:0.0:0.9168:0.0	.	27;27	B1AHB1;P33992	.;MCM5_HUMAN	H	27	ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H	ENSP00000216122:R27H	R	+	2	0	MCM5	34126511	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.291000	0.72719	2.342000	0.79632	0.455000	0.32223	CGC		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			A	35796511	G	A	35796511	3	1	133	1	0	0	0	0	1	0	0	0	9390	1087	38	1	82	1	MCM5	22	35796511	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		35796511	15508055	80	9197											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggaccacgagaaacCgctttccttcaacccctata	10	11	6	14	2	1	1	1	0	0	1	2	3	2	2	5	1	2	1	5	1	4	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:39497965C>T	ENST00000401756.1	+	4	537	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000442487.3_Missense_Mutation_p.P154L|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	154					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537																																						uc021wpt.1																			0				central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(460-462)cCg>cTg		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.							77	73	74					22																	39497965		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497965C>T	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"Apolipoprotein B mRNA editing enzymes"	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.461C>T	22.37:g.39497965C>T	ENSP00000385741:p.Pro154Leu					APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.P154L|APOBEC3H_uc021wpv.1_Missense_Mutation_p.P154L	p.P154L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN			3	588	+	Melanoma(58;0.04)		154					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.461C>T	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281942	0.23392	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000401756	T;T;T	0.63580	-0.05;-0.05;-0.05	0.502	-1.0	0.10196	.	.	.	.	.	T	0.69788	0.3150	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58025	-0.7709	8	0.40728	T	0.16	.	.	.	.	.	154	B7TQM3	.	L	154	ENSP00000216123:P154L;ENSP00000411754:P154L;ENSP00000385741:P154L	ENSP00000216123:P154L	P	+	2	0	APOBEC3H	37827911	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.075000	0.01374	-0.465000	0.06953	0.313000	0.20887	CCG		0.537	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		T	39497965	C	T	39497965	3	4	133	1	0	0	0	0	1	0	0	0	795	652	23	2	471	2	APOBEC3H	22	39497965	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	3701454	39497965	11806601	81	9198											
CENPM	79019	broad.mit.edu	37	chr22	42342475	42342475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtccgccagctgctgcAgaagagcatcctccgtgccc	7	7	11	16	3	0	2	0	0	0	2	4	3	3	2	5	0	5	4	5	0	1	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:42342475A>G	ENST00000215980.5	-	2	170	c.83T>C	c.(82-84)cTg>cCg	p.L28P	CENPM_ENST00000402338.1_5'UTR|CENPM_ENST00000407253.3_Missense_Mutation_p.L28P|CENPM_ENST00000402420.1_5'UTR|CENPM_ENST00000404067.1_5'UTR	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	28					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CAGCTGCTGCAGAAGAGCATC	0.662											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bbn.3																			0				kidney(1)|large_intestine(1)|prostate(1)	3						c.(82-84)cTg>cCg		Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.							35	31	32					22																	42342475		2202	4300	6502	SO:0001583	missense	79019				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus		g.chr22:42342475A>G	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.83T>C	22.37:g.42342475A>G	ENSP00000215980:p.Leu28Pro		OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Missense_Mutation_p.L28P|CENPM_uc003bbp.1_Missense_Mutation_p.L28P	p.L28P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN			1	151	-			28					A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	ENST00000215980.5	37	c.83T>C	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936283	0.73442	.	.	ENSG00000100162	ENST00000215980;ENST00000407253	.	.	.	5.13	5.13	0.70059	.	0.138416	0.50627	D	0.000116	T	0.70334	0.3212	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70828	-0.4766	9	0.46703	T	0.11	-13.6321	11.6358	0.51202	1.0:0.0:0.0:0.0	.	28;28;28	Q9NSP4-2;B1AHQ9;Q9NSP4	.;.;CENPM_HUMAN	P	28	.	ENSP00000215980:L28P	L	-	2	0	CENPM	40672421	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	3.134000	0.50538	2.067000	0.61834	0.533000	0.62120	CTG		0.662	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		G	42342475	A	G	42342475	3	3	133	1	0	0	0	0	1	0	0	0	3237	188	7	4	519	4	CENPM	22	42342475	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	2844510	42342475	8962091	82	9199											
PHEX	5251	broad.mit.edu	37	chrX	22151701	22151701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctagagaaagaaaatgAgtggatggatgcaggaacga	17	6	14	4	1	0	3	0	1	0	2	0	8	0	6	0	3	3	2	0	3	5	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:22151701A>T	ENST00000379374.4	+	12	1929	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V	PHEX_ENST00000418858.3_Missense_Mutation_p.E158V|PHEX_ENST00000535894.1_Missense_Mutation_p.E358V|PHEX_ENST00000537599.1_Missense_Mutation_p.E455V	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	455					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAAGAAAATGAGTGGATGGAT	0.403																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1363-1365)gAg>gTg		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							135	114	121					X																	22151701		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22151701A>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1364A>T	X.37:g.22151701A>T	ENSP00000368682:p.Glu455Val					PHEX_uc011mjr.2_Missense_Mutation_p.E455V|PHEX_uc011mjs.2_Missense_Mutation_p.E358V	p.E455V	NM_000444	NP_000435	P78562	PHEX_HUMAN			11	1567	+			455					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1364A>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785049	0.31593	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.39	4.21	0.49690	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.306226	0.39615	N	0.001308	T	0.73877	0.3643	L	0.35487	1.065	0.41463	D	0.988057	B;B	0.27416	0.178;0.096	B;B	0.31390	0.079;0.129	T	0.67872	-0.5558	10	0.48119	T	0.1	.	7.3562	0.26721	0.7088:0.1471:0.0:0.1441	.	455;455	F5GXU4;P78562	.;PHEX_HUMAN	V	455;455;358;158	ENSP00000368682:E455V;ENSP00000440362:E455V;ENSP00000439418:E358V;ENSP00000443531:E158V	ENSP00000368682:E455V	E	+	2	0	PHEX	22061622	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	5.216000	0.65246	0.671000	0.31185	-0.396000	0.06452	GAG		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		T	22151701	A	T	22151701	3	4	133	1	0	0	0	0	1	0	0	0	11819	304	11	5	1410	5	PHEX	23	22151701	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08		22151701	133118859	83	9200											
GLUD2	2747	broad.mit.edu	37	chrX	120183085	120183085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggcatacacaatggagcGttctgccaggcaaattatgc	11	10	10	10	1	1	0	0	0	1	0	1	1	1	1	1	3	4	3	1	3	4	4	rs201021827		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:120183085G>A	ENST00000328078.1	+	1	1624	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	516					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACAATGGAGCGTTCTGCCAGG	0.468																																						uc004eto.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1546-1548)cGt>cAt		Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						161	122	135					X																	120183085		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183085G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1547G>A	X.37:g.120183085G>A	ENSP00000327589:p.Arg516His						p.R516H	NM_012084	NP_036216	P49448	DHE4_HUMAN			0	1624	+			516					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1547G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179131	0.21787	.	.	ENSG00000182890	ENST00000328078	D	0.96459	-4.02	1.46	-2.21	0.06973	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.052594	0.64402	N	0.000001	D	0.92590	0.7646	M	0.71206	2.165	0.54753	D	0.999985	B	0.17667	0.023	B	0.15052	0.012	T	0.80291	-0.1444	10	0.51188	T	0.08	-2.5094	2.7647	0.05317	0.2616:0.0:0.4893:0.2491	.	516	P49448	DHE4_HUMAN	H	516	ENSP00000327589:R516H	ENSP00000327589:R516H	R	+	2	0	GLUD2	120010766	1.000000	0.71417	0.004000	0.12327	0.095000	0.18619	6.619000	0.74219	-0.559000	0.06110	0.182000	0.17080	CGT		0.468	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		A	120183085	G	A	120183085	3	1	133	1	0	0	0	0	1	0	0	0	6477	1145	40	1	1549	1	GLUD2	23	120183085	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	98031384	120183085	35087475	84	9201											
ENOX2	10495	broad.mit.edu	37	chrX	129759413	129759413	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacactccacatcgctggTgcagatctgtgggacagaga	11	7	13	10	1	1	3	0	0	1	3	3	6	2	4	1	2	1	2	1	2	0	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:129759413T>G	ENST00000370927.1	-	13	1729	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	ENOX2_ENST00000338144.3_Missense_Mutation_p.T570P|ENOX2_ENST00000370935.1_Missense_Mutation_p.T541P|ENOX2_ENST00000394363.1_Missense_Mutation_p.T541P			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	570					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ACATCGCTGGTGCAGATCTGT	0.463																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1708-1710)Acc>Ccc		Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.							83	63	70					X																	129759413		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759413T>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1708A>C	X.37:g.129759413T>G	ENSP00000359965:p.Thr570Pro					ENOX2_uc004evx.3_Missense_Mutation_p.T541P|ENOX2_uc004evy.3_Missense_Mutation_p.T541P|ENOX2_uc004evv.3_Missense_Mutation_p.T395P	p.T570P	NM_182314	NP_006366	Q16206	ENOX2_HUMAN			15	2126	-			570					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1708A>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	7.576	0.667654	0.14710	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.99	4.99	0.66335	.	0.126753	0.53938	D	0.000046	T	0.28400	0.0702	N	0.12502	0.225	0.38153	D	0.93879	B;B	0.14012	0.005;0.009	B;B	0.13407	0.006;0.009	T	0.19192	-1.0313	9	0.02654	T	1	-10.7981	9.9792	0.41802	0.0:0.0:0.0:1.0	.	570;598	Q16206;A4QPE1	ENOX2_HUMAN;.	P	541;570;541;598;570	.	ENSP00000337146:T570P	T	-	1	0	ENOX2	129587094	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.066000	0.41452	1.959000	0.56917	0.441000	0.28932	ACC		0.463	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		G	129759413	T	G	129759413	3	3	133	1	0	0	0	0	1	0	0	0	5127	1696	59	5	128	5	ENOX2	23	129759413	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08	9576328	129759413	25511147	85	9202											
SLITRK2	84631	broad.mit.edu	37	chrX	144903994	144903997	+	Frame_Shift_Del	DEL	ACAG	ACAG	-																															ttaaccgtggccgggatcttAcagacagagagtcgcaaaac																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:144903994_144903997delACAG	ENST00000370490.1	+	1	4306_4309	c.51_54delACAG	c.(49-54)ttacagfs	p.LQ17fs	SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.LQ17fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.LQ17fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.LQ17fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.LQ17fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	17					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.Q18Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGATCTTACAGACAGAGAGTC	0.471																																						uc022cfn.1																			1	Substitution - coding silent(1)	p.Q18Q(2)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(49-54)ttacagfs		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144903994_144903997delACAG	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.51_54delACAG	X.37:g.144903998_144904001delACAG	ENSP00000359521:p.Leu17fs					SLITRK2_uc004fcd.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nsp.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.2_Frame_Shift_Del_p.L17fs	p.L17fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	51_54	+	Acute lymphoblastic leukemia(192;6.56e-05)		17					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	c.51_54delACAG	CCDS14680.1																																																																																				0.471	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		-	144903997	ACAG	-	144903994	7	5	133	1	0	1	0	1	0	0	0	0	14743	388	14	0	53	0	SLITRK2	23	144903994	Frame_Shift_Del	DEL	ACAG	TCGA-14-0817-01A-01W-0424-08	15144581	144903994	10366566	86	9203											
L1CAM	3897	broad.mit.edu	37	chrX	153137805	153137805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccatccctcgtccagcGgaacctgtgggcggaaaaag	11	5	12	13	3	0	0	0	0	0	0	3	3	2	2	4	3	2	0	4	3	3	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:153137805G>A	ENST00000370060.1	-	5	391	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	L1CAM_ENST00000361699.4_Missense_Mutation_p.R68C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R70C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R63C|L1CAM_ENST00000370055.1_Missense_Mutation_p.R63C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R70C|L1CAM_ENST00000370057.3_Missense_Mutation_p.R68C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	68	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGTCCAGCGGAACCTGTGG	0.637																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(202-204)Cgc>Tgc		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							61	53	56					X																	153137805		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137805G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.202C>T	X.37:g.153137805G>A	ENSP00000359077:p.Arg68Cys					L1CAM_uc004fjc.3_Missense_Mutation_p.R68C|L1CAM_uc010nuo.3_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.R63C	p.R68C	NM_000425	NP_000416	P32004	L1CAM_HUMAN			3	310	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		68			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.202C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941696	0.73557	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.87	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206520	0.33691	N	0.004654	T	0.42787	0.1218	M	0.90759	3.145	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.992	T	0.49835	-0.8897	10	0.87932	D	0	.	11.1311	0.48347	0.0:0.0:0.8156:0.1844	.	63;68;68	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	68;70;68;70;63;63;68;68;63;63;68	ENSP00000359077:R68C;ENSP00000438430:R70C;ENSP00000359074:R68C;ENSP00000439645:R70C;ENSP00000354712:R63C;ENSP00000359072:R63C;ENSP00000355380:R68C;ENSP00000402407:R68C;ENSP00000384902:R63C;ENSP00000392524:R63C;ENSP00000396079:R68C	ENSP00000355380:R68C	R	-	1	0	L1CAM	152790999	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.316000	0.43761	2.259000	0.74868	0.529000	0.55759	CGC		0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153137805	G	A	153137805	3	1	133	1	0	0	0	0	1	0	0	0	8588	1116	39	2	3671	2	L1CAM	23	153137805	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	8233811	153137805	2132755	87	9204											
FLG2	388698	broad.mit.edu	37	chr1	152326384	152326384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagatccagcttgtgtgTgaatgtgttctgaatgtctg	8	15	13	5	0	2	3	0	3	2	1	3	4	3	3	1	0	1	2	1	0	2	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:152326384T>C	ENST00000388718.5	-	3	3950	c.3878A>G	c.(3877-3879)cAc>cGc	p.H1293R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1293					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGTGTGTGAATGTGTTC	0.473																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3877-3879)cAc>cGc		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							454	402	420					1																	152326384		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326384T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3878A>G	1.37:g.152326384T>C	ENSP00000373370:p.His1293Arg					AK056431_uc001ezv.3_Intron	p.H1293R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3951	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1293					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3878A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276525	0.23307	.	.	ENSG00000143520	ENST00000388718	T	0.37752	1.18	2.86	1.62	0.23740	.	.	.	.	.	T	0.07954	0.0199	L	0.41824	1.3	0.09310	N	1	B	0.29253	0.239	B	0.23275	0.045	T	0.35276	-0.9795	9	0.13470	T	0.59	-3.214	5.0465	0.14487	0.2649:0.0:0.0:0.7351	.	1293	Q5D862	FILA2_HUMAN	R	1293	ENSP00000373370:H1293R	ENSP00000373370:H1293R	H	-	2	0	FLG2	150593008	0.014000	0.17966	0.001000	0.08648	0.300000	0.27592	1.030000	0.30153	0.279000	0.22186	0.165000	0.16767	CAC		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152326384	T	C	152326384	3	2	134	1	0	0	0	0	1	0	0	0	5923	1696	59	4	3301	4	FLG2	1	152326384	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		152326384	96924237	1	9205											
HHIPL2	79802	broad.mit.edu	37	chr1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaacttgcgattgtggCggaatttggggtgaaaagcc	11	11	14	5	2	0	2	0	1	0	1	0	4	0	3	1	4	3	0	1	4	6	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:222717002C>T	ENST00000343410.6	-	2	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	284					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R284H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483																																						uc001hnh.1																			1	Substitution - Missense(1)	p.R284H(2)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(850-852)cGc>cAc		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							120	135	130					1																	222717002		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717002C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.851G>A	1.37:g.222717002C>T	ENSP00000342118:p.Arg284His						p.R284H	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	909	-			284					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.851G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747312	0.30955	.	.	ENSG00000143512	ENST00000343410	T	0.14266	2.52	5.2	-1.55	0.08558	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.575798	0.17518	N	0.171343	T	0.10809	0.0264	L	0.49778	1.585	0.19300	N	0.999978	B	0.28419	0.211	B	0.24848	0.056	T	0.16837	-1.0389	10	0.48119	T	0.1	-7.1715	7.303	0.26432	0.0:0.3416:0.1196:0.5388	.	284	Q6UWX4	HIPL2_HUMAN	H	284	ENSP00000342118:R284H	ENSP00000342118:R284H	R	-	2	0	HHIPL2	220783625	0.001000	0.12720	0.142000	0.22268	0.981000	0.71138	-0.127000	0.10547	-0.306000	0.08818	-0.373000	0.07131	CGC		0.483	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222717002	C	T	222717002	3	4	134	1	0	0	0	0	1	0	0	0	7094	768	27	1	1355	1	HHIPL2	1	222717002	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	70390618	222717002	26533619	2	9206											
PELI1	57162	broad.mit.edu	37	chr2	64323378	64323378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccattgcgtggatgcaTcacaagaacaccattagtgg	13	8	10	10	1	1	1	1	0	0	1	1	3	1	2	2	2	4	1	2	2	4	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:64323378T>C	ENST00000358912.4	-	6	1013	c.571A>G	c.(571-573)Atg>Gtg	p.M191V		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	191					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CGTGGATGCATCACAAGAACA	0.458																																						uc002scs.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(571-573)Atg>Gtg		Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.							156	142	147					2																	64323378		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323378T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.571A>G	2.37:g.64323378T>C	ENSP00000351789:p.Met191Val					PELI1_uc002sct.4_Missense_Mutation_p.M191V|PELI1_uc002scr.4_Missense_Mutation_p.M12V	p.M191V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			4	4610	-			191					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.571A>G	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455475	0.84209	.	.	ENSG00000197329	ENST00000358912	T	0.49432	0.78	5.54	5.54	0.83059	.	0.071816	0.85682	D	0.000000	T	0.65585	0.2705	M	0.86028	2.79	0.58432	D	0.999997	P	0.51057	0.941	P	0.52598	0.703	T	0.72646	-0.4230	10	0.72032	D	0.01	-0.0466	15.9649	0.79961	0.0:0.0:0.0:1.0	.	191	Q96FA3	PELI1_HUMAN	V	191	ENSP00000351789:M191V	ENSP00000351789:M191V	M	-	1	0	PELI1	64176882	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.997000	0.88414	2.232000	0.73038	0.533000	0.62120	ATG		0.458	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		C	64323378	T	C	64323378	3	2	134	1	0	0	0	0	1	0	0	0	11721	1435	50	4	693	4	PELI1	2	64323378	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		64323378	178875995	3	9207											
ARHGAP25	9938	broad.mit.edu	37	chr2	69053291	69053291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagtcaaggaatttGtcaaatccatgaaggaaccc	18	7	9	7	0	2	3	2	1	0	2	3	5	3	5	2	2	1	0	2	2	8	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:69053291G>A	ENST00000295381.3	+	11	2322	c.1903G>A	c.(1903-1905)Gtc>Atc	p.V635I	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V629I|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V628I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V636I|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.V329I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V596I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	635					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGGAATTTGTCAAATCCAT	0.552																																						uc010fdg.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1906-1908)Gtc>Atc		Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.							84	88	86					2																	69053291		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69053291G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1903G>A	2.37:g.69053291G>A	ENSP00000295381:p.Val635Ile					ARHGAP25_uc010yql.2_Missense_Mutation_p.V596I|ARHGAP25_uc002sew.3_Missense_Mutation_p.V628I|ARHGAP25_uc002sex.3_Missense_Mutation_p.V629I	p.V636I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			10	2325	+			635					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1906G>A		.	.	.	.	.	.	.	.	.	.	G	15.12	2.739113	0.49045	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000543533;ENST00000479844	T;T;T;T;T;T	0.17370	2.86;2.86;2.6;2.86;2.86;2.28	5.95	5.02	0.67125	.	0.210198	0.42548	D	0.000692	T	0.12603	0.0306	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.33171	0.278;0.4;0.4;0.4;0.215	B;B;B;B;B	0.33960	0.084;0.173;0.173;0.121;0.101	T	0.06180	-1.0841	10	0.37606	T	0.19	.	10.9543	0.47347	0.0717:0.1317:0.7966:0.0	.	596;636;629;628;635	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.;.;.;.;RHG25_HUMAN	I	635;636;596;628;629;620;329	ENSP00000295381:V635I;ENSP00000386911:V636I;ENSP00000420583:V596I;ENSP00000386863:V628I;ENSP00000386241:V629I;ENSP00000417467:V329I	ENSP00000295381:V635I	V	+	1	0	ARHGAP25	68906795	0.998000	0.40836	0.990000	0.47175	0.954000	0.61252	1.024000	0.30077	2.824000	0.97209	0.655000	0.94253	GTC		0.552	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69053291	G	A	69053291	3	1	134	1	0	0	0	0	1	0	0	0	874	1377	48	3	1988	3	ARHGAP25	2	69053291	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	4729913	69053291	174146082	4	9208											
YSK4	80122	broad.mit.edu	37	chr2	135738921	135738921	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagtgttctcttgcaaGcatgtccccaaataggccac	10	10	7	14	0	2	0	1	0	1	0	4	0	3	0	3	1	2	3	3	1	3	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:135738921G>T	ENST00000375845.3	-	9	3420	c.3390C>A	c.(3388-3390)tgC>tgA	p.C1130*	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Nonsense_Mutation_p.C312*|MAP3K19_ENST00000392917.3_Nonsense_Mutation_p.C262*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.C1017*|MAP3K19_ENST00000392918.3_Nonsense_Mutation_p.C264*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCTCTTGCAAGCATGTCCCCA	0.418																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3388-3390)tgC>tgA		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							149	136	141					2																	135738921		2203	4300	6503	SO:0001587	stop_gained	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738921G>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3390C>A	2.37:g.135738921G>T	ENSP00000365005:p.Cys1130*					YSK4_uc002tuf.1_Nonsense_Mutation_p.C312*|YSK4_uc010fnc.1_Nonsense_Mutation_p.C264*|YSK4_uc010fnd.1_Nonsense_Mutation_p.C1017*|YSK4_uc010zbg.1_Nonsense_Mutation_p.C262*|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Nonsense_Mutation_p.C858*|YSK4_uc002tui.4_3'UTR	p.C1130*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3421	-			1130			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.3390C>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276984	0.80580	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365	.	.	.	5.75	4.79	0.61399	.	0.130080	0.35708	N	0.003021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7105	0.51623	0.1574:0.0:0.8426:0.0	.	.	.	.	X	1130;1017;312;264;262;520	.	ENSP00000351140:C1017X	C	-	3	2	YSK4	135455391	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	0.495000	0.22483	1.271000	0.44313	0.563000	0.77884	TGC		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135738921	G	T	135738921	4	4	134	1	0	0	0	0	0	1	0	0	17492	963	34	5	604	5	YSK4	2	135738921	Nonsense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	66685630	135738921	107460452	5	9209											
SAG	6295	broad.mit.edu	37	chr2	234237130	234237130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcccacaggagctcCgtgcgattactgatccgcaa	8	10	10	13	3	0	1	0	1	0	0	3	3	3	2	3	1	3	4	3	1	2	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:234237130C>T	ENST00000409110.1	+	8	749	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SAG_ENST00000449594.2_Silent_p.S39S	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	173					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACAGGAGCTCCGTGCGATTAC	0.592																																						uc002vuh.2																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(517-519)tcC>tcT		Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.							159	139	145					2																	234237130		1983	4151	6134	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237130C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.519C>T	2.37:g.234237130C>T						SAG_uc010zmq.1_Silent_p.S39S	p.S173S	NM_000541	NP_000532	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	7	907	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	173					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.519C>T	CCDS46545.1																																																																																				0.592	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		T	234237130	C	T	234237130	2	4	134	1	0	0	0	0	0	0	0	1	13808	639	23	2		2	SAG	2	234237130	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	98498209	234237130	8962243	6	9210											
NEK4	6787	broad.mit.edu	37	chr3	52780805	52780807	+	In_Frame_Del	DEL	CTC	CTC	-																															ctctgtgctcagtctgttctCtcctcttttgccgtcgctgt																										TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:52780805_52780807delCTC	ENST00000233027.5	-	9	1822_1824	c.1620_1622delGAG	c.(1618-1623)aggaga>aga	p.540_541RR>R	NEK4_ENST00000383721.4_In_Frame_Del_p.494_495RR>R|NEK4_ENST00000535191.1_In_Frame_Del_p.451_452RR>R	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	540					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTCTGTTCTCTCCTCTTTTGCC	0.483																																						uc003dfq.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1618-1623)aggaga>aga		Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52780805_52780807delCTC	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1620_1622delGAG	3.37:g.52780808_52780810delCTC	ENSP00000233027:p.Arg541del					NEK4_uc011bej.2_In_Frame_Del_p.451_452RR>R|NEK4_uc003dfr.3_In_Frame_Del_p.494_495RR>R	p.540_541RR>R	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	8	1823_1825	-			540					A5YM70|B2R633|B7Z200|Q6P576	In_Frame_Del	DEL	ENST00000233027.5	37	c.1620_1622delGAG	CCDS2863.1																																																																																				0.483	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		-	52780807	CTC	-	52780805	7	5	134	1	0	1	0	1	0	0	0	0	10326	913	32	0	935	0	NEK4	3	52780805	In_Frame_Del	DEL	CTC	TCGA-14-0862-01B-01D-1845-08		52780805	145241625	7	9211											
PRKCD	5580	broad.mit.edu	37	chr3	53222823	53222823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaaagagaacatattcggGgagagccgggccagcacctt	12	6	13	10	2	0	2	0	0	0	2	1	4	0	2	3	3	4	2	3	3	3	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:53222823G>A	ENST00000394729.2	+	15	1831	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	PRKCD_ENST00000330452.3_Silent_p.G501G	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	501	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	ACATATTCGGGGAGAGCCGGG	0.602																																						uc003dgl.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1501-1503)ggG>ggA		Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.							91	91	91					3																	53222823		2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53222823G>A		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1503G>A	3.37:g.53222823G>A						PRKCD_uc003dgm.3_Silent_p.G501G	p.G501G	NM_006254	NP_997704	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	15	1856	+		Ovarian(412;0.0728)	501			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.1503G>A	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			A	53222823	G	A	53222823	2	1	134	1	0	0	0	0	0	0	0	1	12509	1219	43	3		3	PRKCD	3	53222823	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08	442018	53222823	144799607	8	9212											
HHLA2	11148	broad.mit.edu	37	chr3	108076824	108076824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttctctgtcctggcttaCtatctgagctcctcacaaaa	9	14	5	13	0	3	1	1	1	2	0	6	1	5	1	2	1	2	2	2	1	4	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:108076824C>T	ENST00000357759.5	+	6	1233	c.819C>T	c.(817-819)taC>taT	p.Y273Y	HHLA2_ENST00000467761.1_Silent_p.Y273Y|HHLA2_ENST00000489514.2_Silent_p.Y273Y|HHLA2_ENST00000467562.1_Silent_p.Y209Y|HHLA2_ENST00000491820.1_Silent_p.Y273Y	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	273	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTGGCTTACTATCTGAGCT	0.383																																						uc003dwz.3																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(817-819)taC>taT		Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.							147	143	145					3																	108076824		1851	4096	5947	SO:0001819	synonymous_variant	11148					integral to membrane		g.chr3:108076824C>T	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.819C>T	3.37:g.108076824C>T						HHLA2_uc011bhl.2_Silent_p.Y209Y|HHLA2_uc010hpu.3_Silent_p.Y273Y|HHLA2_uc003dwy.4_Silent_p.Y273Y	p.Y273Y	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			5	1233	+			273			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	c.819C>T	CCDS46883.1																																																																																				0.383	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		T	108076824	C	T	108076824	2	4	134	1	0	0	0	0	0	0	0	1	7095	576	20	3		3	HHLA2	3	108076824	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	54854001	108076824	89945606	9	9213											
PKD2	5311	broad.mit.edu	37	chr4	88973174	88973174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctataggaattaacatatAcagaacatcaaatgtggagg	18	9	9	5	0	1	1	1	0	0	1	1	3	1	3	0	3	4	1	0	3	8	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:88973174A>G	ENST00000237596.2	+	7	1646	c.1580A>G	c.(1579-1581)tAc>tGc	p.Y527C	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTAACATATACAGAACATCA	0.328																																						uc003hre.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1579-1581)tAc>tGc		Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.							72	72	72					4																	88973174		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88973174A>G	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1580A>G	4.37:g.88973174A>G	ENSP00000237596:p.Tyr527Cys					PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	p.Y527C	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1667	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	527					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1580A>G	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	5.795	0.331084	0.10956	.	.	ENSG00000118762	ENST00000237596	T	0.70749	-0.51	5.23	5.23	0.72850	Polycystin cation channel, PKD1/PKD2 (1);	0.351883	0.33854	N	0.004489	T	0.72382	0.3453	M	0.78916	2.43	0.80722	D	1	B	0.02656	0.0	B	0.15052	0.012	T	0.71174	-0.4670	10	0.52906	T	0.07	-2.5939	15.4425	0.75195	1.0:0.0:0.0:0.0	.	527	Q13563	PKD2_HUMAN	C	527	ENSP00000237596:Y527C	ENSP00000237596:Y527C	Y	+	2	0	PKD2	89192198	0.044000	0.20184	0.045000	0.18777	0.040000	0.13550	2.649000	0.46656	2.100000	0.63781	0.533000	0.62120	TAC		0.328	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		G	88973174	A	G	88973174	3	3	134	1	0	0	0	0	1	0	0	0	11966	391	14	4	1606	4	PKD2	4	88973174	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		88973174	102181102	10	9214											
POU4F2	5458	broad.mit.edu	37	chr4	147561831	147561831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctactttgccattcaGcctcggccctcctctgaaaa	9	10	7	15	1	2	1	1	1	1	0	4	2	3	1	5	1	4	0	5	1	4	3	rs372860552		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:147561831G>T	ENST00000281321.3	+	2	1349	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	367					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTGCCATTCAGCCTCGGCCCT	0.582																																						uc003ikv.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1099-1101)caG>caT		Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.							62	66	65					4																	147561831		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561831G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1101G>T	4.37:g.147561831G>T	ENSP00000281321:p.Gln367His						p.Q367H	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	1349	+	all_hematologic(180;0.151)		367					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1101G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242842	0.58995	.	.	ENSG00000151615	ENST00000281321	D	0.96265	-3.96	5.55	4.71	0.59529	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.97702	1.0185	10	0.87932	D	0	.	14.314	0.66434	0.0714:0.0:0.9286:0.0	.	367	Q12837	PO4F2_HUMAN	H	367	ENSP00000281321:Q367H	ENSP00000281321:Q367H	Q	+	3	2	POU4F2	147781281	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.738000	0.74822	1.355000	0.45865	0.561000	0.74099	CAG		0.582	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		T	147561831	G	T	147561831	3	4	134	1	0	0	0	0	1	0	0	0	12279	962	34	5	1107	5	POU4F2	4	147561831	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	58588657	147561831	43592445	11	9215											
TLR2	7097	broad.mit.edu	37	chr4	154624496	154624496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggaaacatctcttttttCtcatctcacaaaattgcaaa	14	13	5	9	0	3	0	2	0	3	0	6	1	3	1	0	2	2	1	0	2	4	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:154624496C>G	ENST00000260010.6	+	1	1845	c.437C>G	c.(436-438)tCt>tGt	p.S146C		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	146					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.S146C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCTCTTTTTTCTCATCTCACA	0.373																																						uc003inq.3																			1	Substitution - Missense(1)	p.S146C(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(436-438)tCt>tGt		Homo sapiens toll-like receptor 2 (TLR2), mRNA.							46	50	49					4																	154624496		2197	4299	6496	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624496C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.437C>G	4.37:g.154624496C>G	ENSP00000260010:p.Ser146Cys					TLR2_uc003inr.3_Missense_Mutation_p.S146C|TLR2_uc003ins.3_Missense_Mutation_p.S146C|TLR2_uc021xtl.1_Missense_Mutation_p.S146C	p.S146C	NM_003264	NP_003255	O60603	TLR2_HUMAN			2	656	+	all_hematologic(180;0.093)	Renal(120;0.117)	146					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.437C>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643087	0.47153	.	.	ENSG00000137462	ENST00000260010	T	0.01099	5.34	5.81	4.05	0.47172	.	0.559647	0.19389	N	0.115446	T	0.03520	0.0101	L	0.44542	1.39	0.29507	N	0.854461	D	0.69078	0.997	D	0.63488	0.915	T	0.14699	-1.0463	10	0.66056	D	0.02	.	11.3551	0.49611	0.1254:0.8083:0.0:0.0662	.	146	O60603	TLR2_HUMAN	C	146	ENSP00000260010:S146C	ENSP00000260010:S146C	S	+	2	0	TLR2	154843946	0.008000	0.16893	0.847000	0.33407	0.855000	0.48748	0.574000	0.23714	1.439000	0.47511	0.655000	0.94253	TCT		0.373	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			G	154624496	C	G	154624496	3	3	134	1	0	0	0	0	1	0	0	0	15948	913	32	5	439	5	TLR2	4	154624496	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	7062665	154624496	36529780	12	9216											
PIK3R1	5295	broad.mit.edu	37	chr5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagggggaaataacaaAttaatcaaaatatttcatcg	20	9	8	4	1	2	0	2	0	0	0	3	2	2	2	0	3	1	0	0	3	8	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:67589149A>T	ENST00000521381.1	+	10	1753	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_ENST00000274335.5_Missense_Mutation_p.K379N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K109N|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K16N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K79N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K379N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1137)aaA>aaT		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						53	59	57					5																	67589149		2187	4295	6482	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589149A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1137A>T	5.37:g.67589149A>T	ENSP00000428056:p.Lys379Asn	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	p.K379N	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1717	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1137A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982589	0.74474	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.2	2.78	0.32641	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.995;0.999	D	0.94107	0.7367	10	0.87932	D	0	-33.0253	9.9875	0.41849	0.8618:0.0:0.1382:0.0	.	49;109;79;379	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	N	379;379;379;379;109;79;16;109;52;16	ENSP00000428056:K379N;ENSP00000429277:K379N;ENSP00000379855:K379N;ENSP00000274335:K379N;ENSP00000430126:K109N;ENSP00000323512:K79N;ENSP00000431058:K16N;ENSP00000338554:K109N;ENSP00000429156:K52N;ENSP00000430098:K16N	ENSP00000274335:K379N	K	+	3	2	PIK3R1	67624905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	0.516000	0.28340	0.454000	0.30748	AAA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67589149	A	T	67589149	3	4	134	1	0	0	0	0	1	0	0	0	11918	98	4	5	1301	5	PIK3R1	5	67589149	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		67589149	113326111	13	9217											
CXXC5	51523	broad.mit.edu	37	chr5	139060958	139060958	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcagcagttgtaggaatCgaaagactggccatcagatt	13	9	12	7	1	1	2	1	0	0	2	2	4	1	3	1	2	2	4	1	2	3	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:139060958C>T	ENST00000302517.3	+	2	1564	c.850C>T	c.(850-852)Cga>Tga	p.R284*	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.R284*	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	284					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAATCGAAAGACTGG	0.562																																						uc010jfg.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(850-852)Cga>Tga		Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.							83	95	91					5																	139060958		2002	4163	6165	SO:0001587	stop_gained	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060958C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.850C>T	5.37:g.139060958C>T	ENSP00000302543:p.Arg284*					CXXC5_uc003let.2_Nonsense_Mutation_p.R284*	p.R284*	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1140	+			284					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Nonsense_Mutation	SNP	ENST00000302517.3	37	c.850C>T	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	43	10.199401	0.99358	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6902	18.1555	0.89689	0.0:1.0:0.0:0.0	.	.	.	.	X	284	.	ENSP00000302543:R284X	R	+	1	2	CXXC5	139041142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.525000	0.67110	2.289000	0.77006	0.511000	0.50034	CGA		0.562	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		T	139060958	C	T	139060958	4	4	134	1	0	0	0	0	0	1	0	0	4099	876	31	2	852	2	CXXC5	5	139060958	Nonsense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	71471809	139060958	41854302	14	9218											
PCDHB12	56124	broad.mit.edu	37	chr5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggggttccagttcCgcgtgggcgccacagaccac	6	6	13	16	3	0	1	0	0	0	1	2	1	2	1	5	3	1	3	5	3	0	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677																																						uc003liz.3																			0		p.R530H(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1588-1590)Cgc>Tgc		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							65	71	69					5																	140590067		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590067C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1588C>T	5.37:g.140590067C>T	ENSP00000239450:p.Arg530Cys					PCDHB12_uc011dak.2_Missense_Mutation_p.R193C	p.R530C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1777	+			530			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1588C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590694	0.13812	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	-6.81	0.01704	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01835	0.0058	L	0.55103	1.725	0.09310	N	1	B	0.22276	0.067	B	0.24269	0.052	T	0.45249	-0.9274	9	0.54805	T	0.06	.	3.4651	0.07547	0.1552:0.261:0.4232:0.1606	.	530	Q9Y5F1	PCDBC_HUMAN	C	193;530;150	ENSP00000440199:R193C;ENSP00000239450:R530C	ENSP00000239450:R530C	R	+	1	0	PCDHB12	140570251	0.000000	0.05858	0.274000	0.24659	0.634000	0.38068	-7.024000	0.00046	-1.050000	0.03230	0.485000	0.47835	CGC		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140590067	C	T	140590067	3	4	134	1	0	0	0	0	1	0	0	0	11537	652	23	2	1590	2	PCDHB12	5	140590067	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	1529109	140590067	40325193	15	9219											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788951	140788951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagacattccattcaagatTtattcttcttccaataacta	14	15	2	10	0	3	2	1	0	2	2	5	2	5	2	2	0	1	0	2	0	5	9			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140788951T>G	ENST00000520790.1	+	1	1182	c.1182T>G	c.(1180-1182)atT>atG	p.I394M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I394M(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATTTATTCTTCTT	0.453																																						uc003lkj.2																			1	Substitution - Missense(1)	p.I394M(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1180-1182)atT>atG		Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.							50	53	52					5																	140788951		1920	4138	6058	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788951T>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1182T>G	5.37:g.140788951T>G	ENSP00000428603:p.Ile394Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.I394M	p.I394M	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1182	+			397			Cadherin 4.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1182T>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	11.71	1.720291	0.30503	.	.	ENSG00000253305	ENST00000520790	T	0.64803	-0.12	5.47	-0.593	0.11667	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75443	0.3850	M	0.88570	2.965	0.09310	N	1	D;D	0.67145	0.996;0.995	D;D	0.72338	0.977;0.962	T	0.61806	-0.6987	9	0.66056	D	0.02	.	1.8193	0.03107	0.2275:0.1412:0.105:0.5262	.	394;394	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	M	394	ENSP00000428603:I394M	ENSP00000428603:I394M	I	+	3	3	PCDHGB6	140769135	0.000000	0.05858	0.196000	0.23383	0.821000	0.46438	-1.705000	0.01896	0.046000	0.15833	0.460000	0.39030	ATT		0.453	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		G	140788951	T	G	140788951	3	3	134	1	0	0	0	0	1	0	0	0	11567	1829	64	5	1184	5	PCDHGB6	5	140788951	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08	198884	140788951	40126309	16	9220											
BMP5	653	broad.mit.edu	37	chr6	55739290	55739290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagataactgtatgcgaCgaggatacccattgggagag	12	8	13	8	3	0	2	0	0	0	2	1	7	1	3	2	2	3	1	2	2	3	4	rs148184427		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:55739290C>T	ENST00000370830.3	-	1	1072	c.374G>A	c.(373-375)cGt>cAt	p.R125H	BMP5_ENST00000446683.2_Missense_Mutation_p.R125H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	125					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTATGCGACGAGGATACCC	0.522																																						uc003pcq.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(373-375)cGt>cAt		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	136	118	124		374	3.8	1	6	dbSNP_134	124	0,8600		0,0,4300	yes	missense	BMP5	NM_021073.2	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	125/455	55739290	3,13003	2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739290C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.374G>A	6.37:g.55739290C>T	ENSP00000359866:p.Arg125His					BMP5_uc011dxf.2_Missense_Mutation_p.R125H	p.R125H	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		0	1086	-	Lung NSC(77;0.0462)		125					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.374G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547045	0.27652	6.81E-4	0.0	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.73047	-0.71;-0.34	5.96	3.85	0.44370	Transforming growth factor-beta, N-terminal (1);	0.179635	0.50627	N	0.000112	T	0.27697	0.0681	N	0.02539	-0.55	0.44587	D	0.997557	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.11494	-1.0585	10	0.32370	T	0.25	.	13.054	0.58969	0.0:0.8463:0.0:0.1537	.	125;125	B4E0Y4;P22003	.;BMP5_HUMAN	H	125	ENSP00000359866:R125H;ENSP00000391818:R125H	ENSP00000359866:R125H	R	-	2	0	BMP5	55847249	0.998000	0.40836	0.980000	0.43619	0.990000	0.78478	3.605000	0.54088	1.504000	0.48704	0.650000	0.86243	CGT		0.522	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			T	55739290	C	T	55739290	3	4	134	1	0	0	0	0	1	0	0	0	1463	536	19	1	1018	1	BMP5	6	55739290	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		55739290	115375777	17	9221											
LAMA2	3908	broad.mit.edu	37	chr6	129687471	129687471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcgccatataaaatgCtgtatggtcttgaaaatatg	12	13	9	7	1	1	1	0	1	1	0	1	1	1	1	2	1	3	2	2	1	7	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:129687471C>T	ENST00000421865.2	+	33	4874	c.4825C>T	c.(4825-4827)Ctg>Ttg	p.L1609L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1609	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATAAAATGCTGTATGGTCT	0.517																																						uc021zfb.1																			0		p.M1608T(1)|p.L1609Q(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4825-4827)Ctg>Ttg		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							75	66	69					6																	129687471		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687471C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4825C>T	6.37:g.129687471C>T						LAMA2_uc003qbn.3_Silent_p.L1609L|LAMA2_uc003qbo.3_Silent_p.L1609L	p.L1609L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4930	+			1609			Domain II and I.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4825C>T	CCDS5138.1																																																																																				0.517	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129687471	C	T	129687471	2	4	134	1	0	0	0	0	0	0	0	1	8606	796	28	3		3	LAMA2	6	129687471	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	73948181	129687471	41427596	18	9222											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914501	147914501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcagaactcccacccGgacctggcacaggaggagat	12	3	12	14	1	0	2	0	0	0	2	1	6	1	4	4	4	2	2	4	4	1	0			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr7:147914501G>A	ENST00000361727.3	+	19	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P	CNTNAP2_ENST00000538075.1_Silent_p.P103P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1044					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P1044P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)																												uc003weu.2																			1	Substitution - coding silent(1)	p.P1044L(2)|p.P1044P(2)	endometrium(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3130-3132)ccG>ccA		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							116	111	113					7																	147914501		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914501G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3132G>A	7.37:g.147914501G>A		HNSCC(39;0.1)					p.P1044P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3648	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1044					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3132G>A	CCDS5889.1																																																																																				0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147914501	G	A	147914501	2	1	134	1	0	0	0	0	0	0	0	1	3647	1103	39	2		2	CNTNAP2	7	147914501	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		147914501	11224162	19	9223											
ARMC1	55156	broad.mit.edu	37	chr8	66534548	66534548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacccagttctcctttcatCttttctctgtttgcacggca	6	17	5	13	1	4	0	1	0	3	0	6	0	4	0	2	1	2	4	2	1	1	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr8:66534548C>G	ENST00000276569.3	-	3	469	c.225G>C	c.(223-225)aaG>aaC	p.K75N	ARMC1_ENST00000523384.1_Intron|ARMC1_ENST00000458464.2_Missense_Mutation_p.D37H	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	75					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTCCTTTCATCTTTTCTCTGT	0.338																																						uc003xvl.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(223-225)aaG>aaC		Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.							176	168	171					8																	66534548		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66534548C>G	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.225G>C	8.37:g.66534548C>G	ENSP00000276569:p.Lys75Asn					ARMC1_uc011leo.2_Missense_Mutation_p.D37H	p.K75N	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		2	480	-			75					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.225G>C	CCDS6181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.090903|2.090903	0.36855|0.36855	.|.	.|.	ENSG00000104442|ENSG00000104442	ENST00000458464|ENST00000276569;ENST00000518908;ENST00000519352	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	4.99|4.99	3.11|3.11	0.35812|0.35812	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35068|0.35068	0.0919|0.0919	M|M	0.70595|0.70595	2.14|2.14	0.27935|0.27935	N|N	0.937737|0.937737	P|P	0.50528|0.34462	0.936|0.454	P|B	0.50659|0.26202	0.647|0.067	T|T	0.20907|0.20907	-1.0261|-1.0261	8|10	0.27785|0.16420	T|T	0.31|0.52	.|.	10.3669|10.3669	0.44030|0.44030	0.0:0.7973:0.0:0.2027|0.0:0.7973:0.0:0.2027	.|.	37|75	B4E2W7|Q9NVT9	.|ARMC1_HUMAN	H|N	37|75	.|ENSP00000276569:K75N;ENSP00000429191:K75N;ENSP00000429715:K75N	ENSP00000388572:D37H|ENSP00000276569:K75N	D|K	-|-	1|3	0|2	ARMC1|ARMC1	66697102|66697102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.536000|1.536000	0.36072|0.36072	0.547000|0.547000	0.28938|0.28938	0.467000|0.467000	0.42956|0.42956	GAT|AAG		0.338	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		G	66534548	C	G	66534548	3	3	134	1	0	0	0	0	1	0	0	0	949	912	32	5	643	5	ARMC1	8	66534548	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		66534548	79829474	20	9224											
OR1L1	26737	broad.mit.edu	37	chr9	125424624	125424624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgtcataatgaccccGttttcatgcatcatcatctc	8	15	6	12	1	5	1	4	1	1	0	6	1	5	1	2	1	1	3	2	1	1	4	rs560776179		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:125424624G>A	ENST00000373686.1	+	1	780	c.780G>A	c.(778-780)ccG>ccA	p.P260P	OR1L1_ENST00000309623.1_Silent_p.P210P			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TAATGACCCCGTTTTCATGCA	0.413													G|||	1	0.000199681	0	0	5008	,	,		25062	0.001		0	False		,,,				2504	0					uc022bmz.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(628-630)ccG>ccA		Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.							184	183	184					9																	125424624		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424624G>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.780G>A	9.37:g.125424624G>A							p.P210P	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			0	630	+			260					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.630G>A																																																																																					0.413	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				A	125424624	G	A	125424624	2	1	134	1	0	0	0	0	0	0	0	1	10963	1132	40	1		1	OR1L1	9	125424624	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		125424624	15788807	21	9225											
FEZ1	9638	broad.mit.edu	37	chr11	125359436	125359436	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctaggttctcggtctTggcgttgtagttccgaaagc	6	12	15	8	3	2	0	0	0	2	0	4	2	3	1	1	4	2	5	1	4	3	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr11:125359436T>G	ENST00000278919.3	-	2	472	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	FEZ1_ENST00000524435.1_Missense_Mutation_p.K80Q|FEZ1_ENST00000366139.3_Missense_Mutation_p.K80Q	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	80					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCGGTCTTGGCGTTGTAG	0.463																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(238-240)Aag>Cag		Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.							133	130	131					11																	125359436		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359436T>G	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.238A>C	11.37:g.125359436T>G	ENSP00000278919:p.Lys80Gln					FEZ1_uc010sbc.2_Missense_Mutation_p.K80Q|FEZ1_uc001qby.2_Missense_Mutation_p.K80Q|FEZ1_uc021qrv.1_Missense_Mutation_p.K80Q	p.K80Q	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	1	473	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	80					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.238A>C	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136773	0.77662	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435	T;T;T	0.31769	1.48;1.48;1.48	5.37	5.37	0.77165	.	0.049426	0.85682	D	0.000000	T	0.50360	0.1611	L	0.58101	1.795	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.958	T	0.42632	-0.9440	10	0.33141	T	0.24	-29.1501	15.0399	0.71781	0.0:0.0:0.0:1.0	.	80;80	B4DKG5;Q99689	.;FEZ1_HUMAN	Q	80	ENSP00000278919:K80Q;ENSP00000393425:K80Q;ENSP00000431521:K80Q	ENSP00000278919:K80Q	K	-	1	0	FEZ1	124864646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.294000	0.51787	2.043000	0.60533	0.528000	0.53228	AAG		0.463	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		G	125359436	T	G	125359436	3	3	134	1	0	0	0	0	1	0	0	0	5823	1821	63	5	980	5	FEZ1	11	125359436	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		125359436	9647080	22	9226											
VWF	7450	broad.mit.edu	37	chr12	6128780	6128780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgctgcagtagaaatcGtgcaacggcggttccgagat	10	8	13	10	4	0	2	0	0	0	2	2	3	1	2	2	2	5	5	2	2	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:6128780G>A	ENST00000261405.5	-	28	4058	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1268			H -> D (in VWD2). {ECO:0000269|PubMed:8376405}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGAAATCGTGCAACGGCG	0.617																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3802-3804)caC>caT		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						64	63	63					12																	6128780		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128780G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3804C>T	12.37:g.6128780G>A						VWF_uc010set.1_Intron	p.H1268H	NM_000552	NP_000543	P04275	VWF_HUMAN			27	4054	-			1268		H -> D (in VWD2).			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.3804C>T	CCDS8539.1																																																																																				0.617	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6128780	G	A	6128780	2	1	134	1	0	0	0	0	0	0	0	1	17243	1136	40	1		1	VWF	12	6128780	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		6128780	127723115	23	9227											
MON2	23041	broad.mit.edu	37	chr12	62954286	62954286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataggagatttttcaagagCttgggatgttcttcttgacc	9	16	10	6	0	3	3	1	1	2	2	3	5	3	4	1	2	1	2	1	2	3	8			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:62954286C>T	ENST00000393632.2	+	26	3816	c.3425C>T	c.(3424-3426)gCt>gTt	p.A1142V	MON2_ENST00000393630.3_Missense_Mutation_p.A1143V|MON2_ENST00000546600.1_Missense_Mutation_p.A1142V|MON2_ENST00000393629.2_Missense_Mutation_p.A1142V|MON2_ENST00000280379.6_Missense_Mutation_p.A1143V|MON2_ENST00000552738.1_Missense_Mutation_p.A1119V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1142					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCAAGAGCTTGGGATGTT	0.338																																						uc001sre.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(3424-3426)gCt>gTt		Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.							65	72	70					12																	62954286		2203	4298	6501	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954286C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3425C>T	12.37:g.62954286C>T	ENSP00000377252:p.Ala1142Val					MON2_uc010ssn.2_Missense_Mutation_p.A1142V|MON2_uc009zqj.3_Missense_Mutation_p.A1142V|MON2_uc010ssl.2_Missense_Mutation_p.A1070V|MON2_uc010ssm.2_Missense_Mutation_p.A1119V|MON2_uc001srf.3_Missense_Mutation_p.A905V|MON2_uc001srg.3_Missense_Mutation_p.A17V	p.A1142V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	25	3816	+			1143					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3425C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268253	0.80469	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	L	0.59436	1.845	0.80722	D	1	P;P;P;D;D	0.89917	0.908;0.849;0.845;1.0;0.982	P;P;P;D;P	0.79108	0.642;0.555;0.756;0.992;0.853	T	0.74839	-0.3528	9	.	.	.	-13.7571	19.2945	0.94117	0.0:1.0:0.0:0.0	.	1142;1119;1142;17;1142	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	V	1142;1143;1143;1142;1119;1142	ENSP00000377252:A1142V;ENSP00000377250:A1143V;ENSP00000280379:A1143V;ENSP00000447407:A1142V;ENSP00000449215:A1119V;ENSP00000377249:A1142V	.	A	+	2	0	MON2	61240553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.643000	0.89663	0.650000	0.86243	GCT		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		T	62954286	C	T	62954286	3	4	134	1	0	0	0	0	1	0	0	0	9700	797	28	3	3527	3	MON2	12	62954286	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	56825506	62954286	70897609	24	9228											
WSCD2	9671	broad.mit.edu	37	chr12	108589646	108589646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattccagcggtacttcCgccggaaacctgtgcgcttc	8	10	9	14	4	1	0	1	0	0	0	4	1	3	1	4	2	4	2	4	2	3	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:108589646C>T	ENST00000332082.4	+	3	855	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD2_ENST00000261400.3_Missense_Mutation_p.R13C|WSCD2_ENST00000547525.1_Missense_Mutation_p.R13C|WSCD2_ENST00000549903.1_Missense_Mutation_p.R13C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	13						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGGTACTTCCGCCGGAAACC	0.587																																						uc001tms.3																			0		p.R13H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(37-39)Cgc>Tgc		Homo sapiens WSC domain containing 2 (WSCD2), mRNA.							63	67	66					12																	108589646		1979	4157	6136	SO:0001583	missense	9671					integral to membrane		g.chr12:108589646C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.37C>T	12.37:g.108589646C>T	ENSP00000331933:p.Arg13Cys					WSCD2_uc001tmt.3_Missense_Mutation_p.R13C	p.R13C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			1	781	+			13					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.37C>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244971	0.95272	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.41758	1.03;0.99;1.03;0.99	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.67707	-0.5601	10	0.87932	D	0	-47.3794	18.8897	0.92395	0.0:1.0:0.0:0.0	.	13	Q2TBF2	WSCD2_HUMAN	C	13	ENSP00000448047:R13C;ENSP00000261400:R13C;ENSP00000331933:R13C;ENSP00000447272:R13C	ENSP00000261400:R13C	R	+	1	0	WSCD2	107113776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.546000	0.60705	2.704000	0.92352	0.655000	0.94253	CGC		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		T	108589646	C	T	108589646	3	4	134	1	0	0	0	0	1	0	0	0	17404	652	23	2	39	2	WSCD2	12	108589646	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	45635360	108589646	25262249	25	9229											
TCHP	84260	broad.mit.edu	37	chr12	110352296	110352296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaagattgagcagaaccGacgggcacaagaggaatccc	16	3	13	9	2	0	5	0	1	0	4	1	8	1	6	2	2	2	2	2	2	4	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:110352296G>A	ENST00000312777.5	+	11	1398	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TCHP_ENST00000405876.4_Missense_Mutation_p.R395Q	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAGCAGAACCGACGGGCACAA	0.483																																						uc001tpn.3																			0		p.R395*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(1183-1185)cGa>cAa		Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.							99	96	97					12																	110352296		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110352296G>A	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1184G>A	12.37:g.110352296G>A	ENSP00000324404:p.Arg395Gln					TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.R395Q	p.R395Q	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN			10	1337	+			395			Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1184G>A	CCDS9137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230455|4.230455	0.79688|0.79688	.|.	.|.	ENSG00000139437|ENSG00000139437	ENST00000536868|ENST00000405876;ENST00000312777;ENST00000551627	.|T;T	.|0.07688	.|3.17;3.17	5.3|5.3	4.4|4.4	0.53042|0.53042	.|.	.|0.139185	.|0.45361	.|D	.|0.000372	T|T	0.10508|0.10508	0.0257|0.0257	L|L	0.52126|0.52126	1.63|1.63	0.37204|0.37204	D|D	0.90449|0.90449	.|D	.|0.55172	.|0.97	.|P	.|0.49853	.|0.624	T|T	0.32719|0.32719	-0.9896|-0.9896	6|10	0.48119|0.13108	T|T	0.1|0.6	-9.1728|-9.1728	6.8291|6.8291	0.23900|0.23900	0.0882:0.0:0.7349:0.1769|0.0882:0.0:0.7349:0.1769	.|.	.|395	.|Q9BT92	.|TCHP_HUMAN	N|Q	214|395;395;39	.|ENSP00000384520:R395Q;ENSP00000324404:R395Q	ENSP00000442282:D214N|ENSP00000324404:R395Q	D|R	+|+	1|2	0|0	TCHP|TCHP	108836679|108836679	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.972000|0.972000	0.66771|0.66771	6.287000|6.287000	0.72671|0.72671	1.230000|1.230000	0.43646|0.43646	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.483	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		A	110352296	G	A	110352296	3	1	134	1	0	0	0	0	1	0	0	0	15699	1058	37	2	1222	2	TCHP	12	110352296	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	1762650	110352296	23499599	26	9230											
CLIP1	6249	broad.mit.edu	37	chr12	122825886	122825886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccagtttggacttccatAgagctatcacatctgagttc	9	14	7	11	0	3	2	1	1	2	1	6	3	4	3	2	1	1	3	2	1	2	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:122825886A>T	ENST00000540338.1	-	10	1906	c.1865T>A	c.(1864-1866)cTa>cAa	p.L622Q	CLIP1_ENST00000358808.2_Missense_Mutation_p.L611Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.L576Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.L576Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.L312Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.L611Q			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	622					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGACTTCCATAGAGCTATCAC	0.488																																						uc001ucg.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1864-1866)cTa>cAa		Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.							140	127	131					12																	122825886		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825886A>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1865T>A	12.37:g.122825886A>T	ENSP00000439093:p.Leu622Gln					CLIP1_uc001uch.1_Missense_Mutation_p.L611Q|CLIP1_uc001uci.1_Missense_Mutation_p.L576Q|CLIP1_uc001ucj.1_Missense_Mutation_p.L312Q|CLIP1_uc009zxo.1_Missense_Mutation_p.L178Q	p.L622Q	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2020	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		622					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1865T>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760189	0.49468	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.60920	2.71;0.73;0.73;0.65;0.7;0.15	5.5	5.5	0.81552	.	0.081374	0.52532	D	0.000066	T	0.69278	0.3093	L	0.47716	1.5	0.46011	D	0.998817	P;D;D;P	0.76494	0.865;0.999;0.999;0.879	B;D;D;P	0.78314	0.421;0.991;0.991;0.566	T	0.66400	-0.5933	10	0.31617	T	0.26	-9.9037	15.9091	0.79456	1.0:0.0:0.0:0.0	.	312;576;611;622	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	Q	312;611;611;456;576;622;545	ENSP00000438743:L312Q;ENSP00000303585:L611Q;ENSP00000351665:L611Q;ENSP00000445531:L576Q;ENSP00000439093:L622Q;ENSP00000437786:L545Q	ENSP00000303585:L611Q	L	-	2	0	CLIP1	121391839	1.000000	0.71417	0.871000	0.34182	0.978000	0.69477	5.773000	0.68898	2.209000	0.71365	0.533000	0.62120	CTA		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		T	122825886	A	T	122825886	3	4	134	1	0	0	0	0	1	0	0	0	3532	420	15	5	2515	5	CLIP1	12	122825886	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	12473590	122825886	11026009	27	9231											
OR11H12	440153	broad.mit.edu	37	chr14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaatatcatgactgggcAtctctgtgccaaactggtca	10	12	8	11	0	3	1	2	1	1	0	5	1	4	1	2	2	2	1	2	2	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr14:19378054A>C	ENST00000550708.1	+	1	533	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478																																						uc010tkp.2																			0		p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(460-462)cAt>cCt		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							135	145	141					14																	19378054		2201	4295	6496	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378054A>C		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.461A>C	14.37:g.19378054A>C	ENSP00000449002:p.His154Pro						p.H154P	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	461	+	all_cancers(95;0.00108)		154						Missense_Mutation	SNP	ENST00000550708.1	37	c.461A>C	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	a	1.637	-0.517562	0.04171	.	.	ENSG00000257115	ENST00000550708	T	0.37058	1.22	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	1.250020	0.05952	N	0.638954	T	0.23766	0.0575	N	0.20685	0.6	0.25105	N	0.99076	B	0.13594	0.008	B	0.16722	0.016	T	0.31779	-0.9931	9	0.49607	T	0.09	.	5.5303	0.16980	0.9999:0.0:1.0E-4:0.0	.	154	B2RN74	O11HC_HUMAN	P	154	ENSP00000449002:H154P	ENSP00000449002:H154P	H	+	2	0	CR383656.1	18448054	0.000000	0.05858	0.840000	0.33206	0.194000	0.23727	-0.719000	0.04974	0.518000	0.28383	0.055000	0.15244	CAT		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		C	19378054	A	C	19378054	3	2	134	1	0	0	0	0	1	0	0	0	10927	217	8	5	463	5	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		19378054	87971486	28	9232											
TMCO5A	145942	broad.mit.edu	37	chr15	38228595	38228595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggaccttgaaagggataCgcagagaatagatgaagcaa	17	6	12	6	1	0	4	0	2	0	2	0	7	0	6	1	2	2	2	1	2	6	3	rs138045481		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:38228595C>T	ENST00000319669.4	+	2	173	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMCO5A_ENST00000558158.1_Missense_Mutation_p.T24M|TMCO5A_ENST00000540944.1_Missense_Mutation_p.T24M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T24M	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	24						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAAGGGATACGCAGAGAATA	0.398																																						uc001zjw.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(70-72)aCg>aTg		Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.		T	MET/THR	0,4400		0,0,2200	113	112	113		71	5.4	1	15	dbSNP_134	113	1,8593	818.4+/-406.9	0,1,4296	no	missense	TMCO5A	NM_152453.2	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	24/289	38228595	1,12993	2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38228595C>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.71C>T	15.37:g.38228595C>T	ENSP00000327234:p.Thr24Met					TMCO5A_uc001zjv.1_Missense_Mutation_p.T24M|TMCO5A_uc010bbc.1_Missense_Mutation_p.T24M	p.T24M	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			1	173	+			24					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.71C>T	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	T	6.471	0.454997	0.12283	0.0	1.16E-4	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	5.4	5.4	0.78164	.	0.159931	0.45606	N	0.000357	T	0.05686	0.0149	N	0.00099	-2.14	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32188	-0.9916	9	0.06236	T	0.91	-7.626	8.0948	0.30822	0.0:0.0892:0.0:0.9108	.	24;24	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	M	24	.	ENSP00000327234:T24M	T	+	2	0	TMCO5A	36015887	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.074000	0.41529	1.074000	0.40909	-0.361000	0.07541	ACG		0.398	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		T	38228595	C	T	38228595	3	4	134	1	0	0	0	0	1	0	0	0	15996	536	19	1	73	1	TMCO5A	15	38228595	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		38228595	64302797	29	9233											
USP8	9101	broad.mit.edu	37	chr15	50788098	50788098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatcatctcgatgacttTaaagctgcagaacatgcctg	13	11	8	9	1	2	3	1	2	1	1	3	4	2	3	1	0	4	2	1	0	4	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:50788098T>C	ENST00000396444.3	+	17	3050	c.2712T>C	c.(2710-2712)ttT>ttC	p.F904F	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.F904F|USP8_ENST00000433963.1_Silent_p.F904F|USP8_ENST00000425032.3_Silent_p.F798F|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	904	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCGATGACTTTAAAGCTGCAG	0.348																																						uc001zym.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2710-2712)ttT>ttC		Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.							43	39	40					15																	50788098		2196	4284	6480	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788098T>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2712T>C	15.37:g.50788098T>C						USP8_uc001zyl.4_Silent_p.F904F|USP8_uc001zyn.4_Silent_p.F904F|USP8_uc010ufh.2_Silent_p.F798F|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.F71F	p.F904F	NM_001128611	NP_005145	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	17	3212	+			904					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2712T>C	CCDS10137.1																																																																																				0.348	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		C	50788098	T	C	50788098	2	2	134	1	0	0	0	0	0	0	0	1	17086	1751	61	4		4	USP8	15	50788098	Silent	SNP	T	TCGA-14-0862-01B-01D-1845-08	12559503	50788098	51743294	30	9234											
ADCY9	115	broad.mit.edu	37	chr16	4016798	4016798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcggtgaagatccgCttccacgtctccgtggtagt	5	12	13	11	4	1	2	0	1	1	1	4	2	3	2	3	3	1	2	3	3	2	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:4016798C>T	ENST00000294016.3	-	11	3578	c.3040G>A	c.(3040-3042)Gcg>Acg	p.A1014T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1014					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAAGATCCGCTTCCACGTCT	0.567																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3040-3042)Gcg>Acg		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							133	119	123					16																	4016798		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016798C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3040G>A	16.37:g.4016798C>T	ENSP00000294016:p.Ala1014Thr						p.A1014T	NM_001116	NP_001107	O60503	ADCY9_HUMAN			10	3579	-			1014					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3040G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913142	0.92178	.	.	ENSG00000162104	ENST00000294016	D	0.86497	-2.13	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93300	0.6676	10	0.59425	D	0.04	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1014	O60503	ADCY9_HUMAN	T	1014	ENSP00000294016:A1014T	ENSP00000294016:A1014T	A	-	1	0	ADCY9	3956799	1.000000	0.71417	0.905000	0.35620	0.897000	0.52465	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GCG		0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4016798	C	T	4016798	3	4	134	1	0	0	0	0	1	0	0	0	301	797	28	3	1025	3	ADCY9	16	4016798	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		4016798	86337955	31	9235											
CRYM	1428	broad.mit.edu	37	chr16	21273454	21273454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcatcatccagttctctCcagtcaggtctgctggctcc	6	12	8	15	0	5	0	3	0	2	0	9	0	8	0	3	2	2	4	3	2	0	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:21273454C>A	ENST00000219599.3	-	8	964	c.699G>T	c.(697-699)tgG>tgT	p.W233C	CRYM_ENST00000543948.1_Missense_Mutation_p.W233C|CRYM_ENST00000415987.2_Missense_Mutation_p.W191C|CRYM_ENST00000396023.2_Missense_Mutation_p.W233C	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	233					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CCAGTTCTCTCCAGTCAGGTC	0.532																																						uc002dim.3																			0				large_intestine(1)|lung(3)	4						c.(697-699)tgG>tgT		Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	Levothyroxine(DB00451)						86	67	73					16																	21273454		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21273454C>A		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.699G>T	16.37:g.21273454C>A	ENSP00000219599:p.Trp233Cys					CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.W191C	p.W233C	NM_001888	NP_001014444	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	7	997	-			233					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.699G>T	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258530	0.80246	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.56	5.56	0.83823	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88279	0.2935	10	0.36615	T	0.2	-18.1	18.4906	0.90846	0.0:1.0:0.0:0.0	.	233	Q14894	CRYM_HUMAN	C	233;233;233;191	ENSP00000440227:W233C;ENSP00000219599:W233C;ENSP00000379341:W233C;ENSP00000390928:W191C	ENSP00000219599:W233C	W	-	3	0	CRYM	21180955	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.257000	0.78362	2.610000	0.88304	0.655000	0.94253	TGG		0.532	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			A	21273454	C	A	21273454	3	1	134	1	0	0	0	0	1	0	0	0	3921	856	30	5	257	5	CRYM	16	21273454	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	17256656	21273454	69081299	32	9236											
PRSS36	146547	broad.mit.edu	37	chr16	31151619	31151619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcccctgtacctcaCacctgttctcctgcccctct	4	10	6	21	0	3	0	1	0	2	0	4	0	3	0	8	1	2	2	8	1	1	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:31151619C>A	ENST00000268281.4	-	14	2343	c.2285G>T	c.(2284-2286)tGt>tTt	p.C762F	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Missense_Mutation_p.C757F	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	762	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTGTACCTCACACCTGTTCTC	0.527																																						uc002ebd.3																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(2284-2286)tGt>tTt		Homo sapiens protease, serine, 36 (PRSS36), mRNA.							56	54	55					16																	31151619		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31151619C>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2285G>T	16.37:g.31151619C>A	ENSP00000268281:p.Cys762Phe					PRSS36_uc010vff.2_Missense_Mutation_p.C537F|PRSS36_uc010vfg.2_Missense_Mutation_p.C757F|PRSS36_uc010vfh.2_Intron	p.C762F	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			13	2344	-			762			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2285G>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112650	0.56398	.	.	ENSG00000178226	ENST00000268281	T	0.70282	-0.47	4.92	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.82788	0.5113	M	0.90705	3.14	0.29744	N	0.836869	D;D	0.60575	0.988;0.988	P;P	0.58520	0.84;0.84	T	0.79052	-0.1961	9	0.87932	D	0	.	9.2134	0.37333	0.2707:0.7293:0.0:0.0	.	757;762	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	F	762	ENSP00000268281:C762F	ENSP00000268281:C762F	C	-	2	0	PRSS36	31059120	0.996000	0.38824	1.000000	0.80357	0.967000	0.64934	0.620000	0.24403	2.447000	0.82792	0.555000	0.69702	TGT		0.527	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		A	31151619	C	A	31151619	3	1	134	1	0	0	0	0	1	0	0	0	12625	478	17	5	290	5	PRSS36	16	31151619	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	9878165	31151619	59203134	33	9237											
NTN1	9423	broad.mit.edu	37	chr17	9066306	9066306	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcccatcacccaccggAaggcctgcaaaggtgggcta	11	4	12	14	1	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	4	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:9066306A>T	ENST00000173229.2	+	3	1302	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	NTN1_ENST00000538852.1_Nonsense_Mutation_p.K399*|NTN1_ENST00000546090.1_Nonsense_Mutation_p.K399*	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	399	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CACCCACCGGAAGGCCTGCAA	0.637																																						uc002glw.4																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1195-1197)Aag>Tag		Homo sapiens netrin 1 (NTN1), mRNA.							26	20	22					17																	9066306		2202	4300	6502	SO:0001587	stop_gained	9423				apoptosis|axon guidance		protein binding	g.chr17:9066306A>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1195A>T	17.37:g.9066306A>T	ENSP00000173229:p.Lys399*						p.K399*	NM_004822	NP_004813	O95631	NET1_HUMAN			2	1302	+			399			Laminin EGF-like 2.		E9KL51	Nonsense_Mutation	SNP	ENST00000173229.2	37	c.1195A>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	A	41	9.021207	0.99038	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	.	.	.	4.89	4.89	0.63831	.	0.115004	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7974	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	399;399;399;19	.	ENSP00000173229:K399X	K	+	1	0	NTN1	9007031	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.914000	0.75764	1.973000	0.57446	0.528000	0.53228	AAG		0.637	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			T	9066306	A	T	9066306	4	4	134	1	0	0	0	0	0	1	0	0	10700	247	9	5	1201	5	NTN1	17	9066306	Nonsense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		9066306	72128904	34	9238											
HNF1B	6928	broad.mit.edu	37	chr17	36059152	36059152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccaccattgcagatggaAaccgggaggtgtgggaatac	12	7	14	8	1	0	2	0	1	0	1	0	5	0	5	3	4	3	1	3	4	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:36059152A>G	ENST00000225893.4	-	8	1944	c.1583T>C	c.(1582-1584)tTt>tCt	p.F528S	HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Missense_Mutation_p.F502S|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	528					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCAGATGGAAACCGGGAGGT	0.517																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1582-1584)tTt>tCt		Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.							125	108	114					17																	36059152		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36059152A>G	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1583T>C	17.37:g.36059152A>G	ENSP00000225893:p.Phe528Ser					HNF1B_uc021tvu.1_Missense_Mutation_p.F233S|HNF1B_uc010wdi.2_Missense_Mutation_p.F502S|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	p.F528S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		7	1804	-		Breast(25;0.00765)|Ovarian(249;0.15)	528					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1583T>C	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761721	0.89932	.	.	ENSG00000108753	ENST00000225893;ENST00000539087	D	0.97831	-4.56	5.63	5.63	0.86233	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.67953	2.075	0.80722	D	1	D;D	0.62365	0.981;0.991	D;P	0.64877	0.93;0.898	D	0.99267	1.0892	10	0.87932	D	0	.	15.329	0.74190	1.0:0.0:0.0:0.0	.	502;528	E0YMJ6;P35680	.;HNF1B_HUMAN	S	528;416	ENSP00000225893:F528S	ENSP00000225893:F528S	F	-	2	0	HNF1B	33133265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.282000	0.78630	2.281000	0.76405	0.533000	0.62120	TTT		0.517	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		G	36059152	A	G	36059152	3	3	134	1	0	0	0	0	1	0	0	0	7252	14	1	4	98	4	HNF1B	17	36059152	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	26992846	36059152	45136058	35	9239											
TMC8	147138	broad.mit.edu	37	chr17	76128876	76128876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcaacagccctccaGtgccctggtagccgccagtc	6	8	8	19	1	1	0	1	0	0	0	5	0	4	0	7	1	4	1	7	1	2	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:76128876G>A	ENST00000318430.5	+	5	830	c.456G>A	c.(454-456)caG>caA	p.Q152Q	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	152					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGCCCTCCAGTGCCCTGGTA	0.592																																						uc002jup.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(454-456)caG>caA		Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.							101	99	100					17																	76128876		2203	4300	6503	SO:0001819	synonymous_variant	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76128876G>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.456G>A	17.37:g.76128876G>A						TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	p.Q152Q	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		4	838	+			152					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.456G>A	CCDS32749.1																																																																																				0.592	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			A	76128876	G	A	76128876	2	1	134	1	0	0	0	0	0	0	0	1	15988	1020	36	3		3	TMC8	17	76128876	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08	40069724	76128876	5066334	36	9240											
DSC1	1823	broad.mit.edu	37	chr18	28712602	28712602	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgtcttctggaaaacAtttcttgactgttctcttag	8	17	8	8	0	4	1	0	1	4	0	5	2	4	2	0	2	1	2	0	2	4	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr18:28712602A>T	ENST00000257198.5	-	14	2428	c.2167T>A	c.(2167-2169)Tgt>Agt	p.C723S	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.C723S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	723					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGGAAAACATTTCTTGACT	0.328																																						uc002kwn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2167-2169)Tgt>Agt		Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.							131	124	126					18																	28712602		2202	4300	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712602A>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2167T>A	18.37:g.28712602A>T	ENSP00000257198:p.Cys723Ser					DSC1_uc002kwm.3_Missense_Mutation_p.C723S	p.C723S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		13	2429	-			723					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2167T>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590737	0.28357	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.6;0.56	5.84	3.44	0.39384	.	0.000000	0.64402	D	0.000018	T	0.50171	0.1600	L	0.60455	1.87	0.30522	N	0.76831	P;P	0.47484	0.896;0.799	P;B	0.50934	0.654;0.323	T	0.49093	-0.8975	10	0.18710	T	0.47	.	4.0278	0.09695	0.5961:0.0:0.1423:0.2617	.	723;723	Q08554;Q9HB00	DSC1_HUMAN;.	S	723	ENSP00000257197:C723S;ENSP00000257198:C723S	ENSP00000257197:C723S	C	-	1	0	DSC1	26966600	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	1.142000	0.31540	0.467000	0.27218	0.533000	0.62120	TGT		0.328	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		T	28712602	A	T	28712602	3	4	134	1	0	0	0	0	1	0	0	0	4765	217	8	5	569	5	DSC1	18	28712602	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		28712602	49364646	37	9241											
REXO1	57455	broad.mit.edu	37	chr19	1827919	1827924	+	In_Frame_Del	DEL	TCTGAG	TCTGAG	-																															ggaccgtggcggcctcatctTctgagtctgagaaccttgca																										TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:1827919_1827924delTCTGAG	ENST00000170168.4	-	2	958_963	c.864_869delCTCAGA	c.(862-870)gactcagaa>gaa	p.DS288del	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	288						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTCATCTTCTGAGTCTGAGAACC	0.67																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(862-870)gactcagaa>gaa		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.																																				SO:0001651	inframe_deletion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827919_1827924delTCTGAG	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.864_869delCTCAGA	19.37:g.1827925_1827930delTCTGAG	ENSP00000170168:p.Asp288_Ser289del					REXO1_uc010dsr.1_In_Frame_Del_p.DS242del	p.DS288del	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	959_964	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	288					Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	c.864_869delCTCAGA	CCDS32866.1																																																																																				0.67	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		-	1827924	TCTGAG	-	1827919	7	5	134	1	0	1	0	1	0	0	0	0	13241	1783	62	0	2856	0	REXO1	19	1827919	In_Frame_Del	DEL	TCTGAG	TCGA-14-0862-01B-01D-1845-08		1827919	57301064	38	9242											
GNA11	2767	broad.mit.edu	37	chr19	3113330	3113330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccgccctcgcaggcCaatgcgctcctgatccggga	5	6	11	19	4	0	1	0	1	0	0	3	2	2	2	6	2	2	2	6	2	1	0			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:3113330C>T	ENST00000078429.4	+	3	566	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	108					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.A108A(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCAGGCCAATGCGCTCC	0.662			Mis		uveal melanoma																																	uc002lxd.3				Dom	yes		19	19p13.3	2767	Mis	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"			E			uveal melanoma		1	Substitution - coding silent(1)	p.A108A(2)	endometrium(1)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(322-324)gcC>gcT		Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.							74	69	71					19																	3113330		2203	4300	6503	SO:0001819	synonymous_variant	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3113330C>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.324C>T	19.37:g.3113330C>T							p.A108A	NM_002067	NP_002058	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	2	566	+		Hepatocellular(1079;0.137)	108					O15109|Q14350|Q6IB00	Silent	SNP	ENST00000078429.4	37	c.324C>T	CCDS12103.1																																																																																				0.662	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		T	3113330	C	T	3113330	2	4	134	1	0	0	0	0	0	0	0	1	6499	581	21	3		3	GNA11	19	3113330	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	1285411	3113330	56015653	39	9243											
MCOLN1	57192	broad.mit.edu	37	chr19	7593590	7593590	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttcctgctgcagaacGtgaggcttctgcgtcatgtg	6	11	14	10	2	2	2	1	1	1	1	3	3	3	2	1	2	4	4	1	2	1	2	rs397843859		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:7593590G>A	ENST00000264079.6	+	8	1109		c.e8+1			NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCAGAACGTGAGGCTTCT	0.637																																						uc002mgo.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.e8+1		Homo sapiens mucolipin 1 (MCOLN1), mRNA.							123	79	94					19																	7593590		2203	4300	6503	SO:0001630	splice_region_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7593590G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.984+1G>A	19.37:g.7593590G>A						MCOLN1_uc002mgp.3_Splice_Site_p.N293_splice	p.N328_splice	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			8	1125	+			328					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Splice_Site	SNP	ENST00000264079.6	37	c.984_splice	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018980	0.75275	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4854	0.84183	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCOLN1	7499590	1.000000	0.71417	0.965000	0.40720	0.744000	0.42396	9.439000	0.97543	2.492000	0.84095	0.563000	0.77884	.		0.637	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	Intron	A	7593590	G	A	7593590	5	1	134	1	0	0	0	0	0	0	1	0	9395	1159	40	1	1015	1	MCOLN1	19	7593590	Splice_Site	SNP	G	TCGA-14-0862-01B-01D-1845-08	4480260	7593590	51535393	40	9244											
MUC16	94025	broad.mit.edu	37	chr19	9020077	9020077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcccagtacagccgctctCtgttgagtccagggcttttg	5	12	11	13	1	1	1	0	1	1	0	4	1	3	1	3	1	2	5	3	1	1	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9020077C>T	ENST00000397910.4	-	21	37621	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12475	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCGCTCTCTGTTGAGTCC	0.562																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37417-37419)aGa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							177	155	162					19																	9020077		1948	4155	6103	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020077C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37418G>A	19.37:g.9020077C>T	ENSP00000381008:p.Arg12473Lys						p.R12473K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			20	37622	-			12475			SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37418G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.646965	0.47258	.	.	ENSG00000181143	ENST00000397910	T	0.34859	1.34	3.32	3.32	0.38043	.	.	.	.	.	T	0.55940	0.1952	M	0.84683	2.71	.	.	.	D	0.71674	0.998	P	0.57620	0.824	T	0.72478	-0.4281	8	0.87932	D	0	.	10.8274	0.46640	0.0:1.0:0.0:0.0	.	12473	B5ME49	.	K	12473	ENSP00000381008:R12473K	ENSP00000381008:R12473K	R	-	2	0	MUC16	8881077	0.716000	0.27956	0.893000	0.35052	0.409000	0.31022	1.380000	0.34351	1.768000	0.52137	0.555000	0.69702	AGA		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9020077	C	T	9020077	3	4	134	1	0	0	0	0	1	0	0	0	9973	913	32	3	6361	3	MUC16	19	9020077	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	1426487	9020077	50108906	41	9245											
OR7G2	390882	broad.mit.edu	37	chr19	9213273	9213273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatctgagtgtaagacAaaatgattccagacagagga	16	8	12	5	0	1	6	0	3	1	3	2	7	2	7	1	2	0	1	1	2	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9213273A>G	ENST00000305456.2	-	1	709	c.710T>C	c.(709-711)tTg>tCg	p.L237S		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTGTAAGACAAAATGATTCC	0.448																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(709-711)tTg>tCg		Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.							117	106	110					19																	9213273		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213273A>G		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.710T>C	19.37:g.9213273A>G	ENSP00000303822:p.Leu237Ser						p.L237S	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			0	710	-			216					Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.710T>C	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	a	9.019	0.984477	0.18889	.	.	ENSG00000170923	ENST00000305456	T	0.38887	1.11	3.14	-0.318	0.12728	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001379	T	0.22513	0.0543	N	0.21282	0.65	0.09310	N	1	B	0.26809	0.16	B	0.25759	0.063	T	0.11470	-1.0586	10	0.66056	D	0.02	.	3.7982	0.08747	0.6423:0.0:0.1981:0.1596	.	216	Q8NG99	OR7G2_HUMAN	S	237	ENSP00000303822:L237S	ENSP00000303822:L237S	L	-	2	0	OR7G2	9074273	0.007000	0.16637	0.001000	0.08648	0.015000	0.08874	1.732000	0.38146	-0.124000	0.11724	0.367000	0.22151	TTG		0.448	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			G	9213273	A	G	9213273	3	3	134	1	0	0	0	0	1	0	0	0	11223	131	5	4	329	4	OR7G2	19	9213273	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	193196	9213273	49915710	42	9246											
AKAP8	10270	broad.mit.edu	37	chr19	15484623	15484623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctgtatgccctccccAccgccgccgctcccgcccct	2	7	8	24	5	0	0	0	0	0	0	3	0	3	0	10	1	1	2	10	1	1	1	rs117407939		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:15484623A>G	ENST00000269701.2	-	4	405	c.345T>C	c.(343-345)ggT>ggC	p.G115G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	115	Poly-Gly.				mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGCCCTCCCCACCGCCGCCGC	0.632																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(343-345)ggT>ggC		Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.							28	25	26					19																	15484623		2202	4300	6502	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15484623A>G	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.345T>C	19.37:g.15484623A>G						AKAP8_uc010dzy.3_5'Flank|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Intron	p.G115G	NM_005858	NP_005849	O43823	AKAP8_HUMAN			3	415	-			115			Poly-Gly.			Silent	SNP	ENST00000269701.2	37	c.345T>C	CCDS12329.1																																																																																				0.632	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		G	15484623	A	G	15484623	2	3	134	1	0	0	0	0	0	0	0	1	457	146	6	4		4	AKAP8	19	15484623	Silent	SNP	A	TCGA-14-0862-01B-01D-1845-08	6271350	15484623	43644360	43	9247											
ZNF99	7652	broad.mit.edu	37	chr19	22941396	22941396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttatgttttctaagggCtgagaaacgcttaaaagctt	12	15	8	6	1	2	1	0	1	2	1	2	2	2	1	0	1	2	4	0	1	6	7			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:22941396C>A	ENST00000596209.1	-	4	1405	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	ZNF99_ENST00000397104.3_Missense_Mutation_p.A348S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTAAGGGCTGAGAAACGC	0.363																																						uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1315-1317)Gcc>Tcc		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							57	59	58					19																	22941396		2035	4218	6253	SO:0001583	missense	7652							g.chr19:22941396C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1315G>T	19.37:g.22941396C>A	ENSP00000472969:p.Ala439Ser						p.A439S	NM_001080409	NP_001073878					3	1470	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1315G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.148535	0.00328	.	.	ENSG00000213973	ENST00000397104	T	0.18960	2.18	1.28	-0.287	0.12858	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	N	0.05351	-0.065	0.09310	N	1	B	0.14438	0.01	B	0.24541	0.054	T	0.41893	-0.9483	9	0.06099	T	0.92	.	6.5009	0.22168	0.0:0.6964:0.3036:0.0	.	348	A8MXY4	ZNF99_HUMAN	S	348	ENSP00000380293:A348S	ENSP00000380293:A348S	A	-	1	0	ZNF99	22733236	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-7.487000	0.00035	0.675000	0.31264	0.395000	0.25975	GCC		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		A	22941396	C	A	22941396	3	1	134	1	0	0	0	0	1	0	0	0	18201	797	28	5	2082	5	ZNF99	19	22941396	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	7456773	22941396	36187587	44	9248											
FCGBP	8857	broad.mit.edu	37	chr19	40363235	40363235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcggccctcggcggtCacccgcacgcggcccacagc	5	6	12	18	6	1	0	1	0	0	0	3	0	1	0	3	4	1	2	3	4	0	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:40363235C>T	ENST00000221347.6	-	32	14842	c.14835G>A	c.(14833-14835)gtG>gtA	p.V4945V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4945	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCGGCGGTCACCCGCACGC	0.657																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14833-14835)gtG>gtA		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							23	29	27					19																	40363235		2200	4297	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40363235C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14835G>A	19.37:g.40363235C>T							p.V4945V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14843	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4945			VWFD 12.		O95784	Silent	SNP	ENST00000221347.6	37	c.14835G>A	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40363235	C	T	40363235	2	4	134	1	0	0	0	0	0	0	0	1	5778	813	29	3		3	FCGBP	19	40363235	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	17421839	40363235	18765748	45	9249											
KCNG1	3755	broad.mit.edu	37	chr20	49626630	49626630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcgtcagcgggaactcGtccagcgtggtccagggcag	7	5	17	12	5	1	0	1	0	0	0	4	1	3	1	2	4	3	1	2	4	1	0			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:49626630G>A	ENST00000371571.4	-	2	531	c.246C>T	c.(244-246)gaC>gaT	p.D82D	KCNG1_ENST00000396017.3_Silent_p.D82D|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	82					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGGGAACTCGTCCAGCGTGG	0.632																																						uc002xwa.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(244-246)gaC>gaT		Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.							70	61	64					20																	49626630		2203	4300	6503	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626630G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.246C>T	20.37:g.49626630G>A						KCNG1_uc002xwb.3_Silent_p.D82D	p.D82D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			1	541	-			82					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.246C>T	CCDS13436.1																																																																																				0.632	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		A	49626630	G	A	49626630	2	1	134	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626630	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		49626630	13398890	46	9250											
LZTR1	8216	broad.mit.edu	37	chr22	21349215	21349217	+	In_Frame_Del	DEL	GAA	GAA	-																															ttcaaccaggtgatcatgatGaaggagttcgagcgcctctc																										TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:21349215_21349217delGAA	ENST00000215739.8	+	16	2201_2203	c.1842_1844delGAA	c.(1840-1845)atgaag>atg	p.K615del	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_In_Frame_Del_p.K596del	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	615					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGATCATGATGAAGGAGTTCGAG	0.601																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1840-1845)atgaag>atg		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.																																				SO:0001651	inframe_deletion	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349215_21349217delGAA	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1842_1844delGAA	22.37:g.21349215_21349217delGAA	ENSP00000215739:p.Lys615del					LZTR1_uc002ztn.3_In_Frame_Del_p.K574del|LZTR1_uc011ahy.2_In_Frame_Del_p.K596del	p.K615del	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1945_1947	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	615					Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	c.1842_1844delGAA	CCDS33606.1																																																																																				0.601	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		-	21349217	GAA	-	21349215	7	5	134	1	0	1	0	1	0	0	0	0	9137	1290	45	0	1904	0	LZTR1	22	21349215	In_Frame_Del	DEL	GAA	TCGA-14-0862-01B-01D-1845-08		21349215	29955351	47	9251											
MN1	4330	broad.mit.edu	37	chr22	28193444	28193444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccgacttggccccgcCgtccagggacccaatgaggt	7	7	12	15	3	0	1	0	1	0	0	2	3	2	2	6	3	0	0	6	3	1	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:28193444C>T	ENST00000302326.4	-	1	4042	c.3088G>A	c.(3088-3090)Ggc>Agc	p.G1030S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1030					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGCCCCGCCGTCCAGGGAC	0.657			T	ETV6	"AML, meningioma"																																	uc003adj.3				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(3088-3090)Ggc>Agc		Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.							48	53	52					22																	28193444		2069	4187	6256	SO:0001583	missense	4330						binding	g.chr22:28193444C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3088G>A	22.37:g.28193444C>T	ENSP00000304956:p.Gly1030Ser						p.G1030S	NM_002430	NP_002421	Q10571	MN1_HUMAN			0	4043	-			1030					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3088G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.764678	0.00651	.	.	ENSG00000169184	ENST00000302326	T	0.38887	1.11	4.1	-0.605	0.11623	.	0.116835	0.56097	N	0.000040	T	0.11965	0.0291	N	0.01576	-0.805	0.24779	N	0.992827	B	0.09022	0.002	B	0.09377	0.004	T	0.33163	-0.9879	10	0.09590	T	0.72	-7.8156	7.0507	0.25071	0.0:0.3175:0.0:0.6825	.	1030	Q10571	MN1_HUMAN	S	1030	ENSP00000304956:G1030S	ENSP00000304956:G1030S	G	-	1	0	MN1	26523444	1.000000	0.71417	0.980000	0.43619	0.037000	0.13140	2.130000	0.42064	0.059000	0.16252	-0.379000	0.06801	GGC		0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28193444	C	T	28193444	3	4	134	1	0	0	0	0	1	0	0	0	9673	652	23	2	882	2	MN1	22	28193444	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	6844229	28193444	23111122	48	9252											
MID1	4281	broad.mit.edu	37	chrX	10535512	10535512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagcagaggctgtgtgCgcagggcagtagaagagggt	10	7	19	5	1	0	4	0	1	0	3	0	4	0	4	0	3	2	6	0	3	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:10535512C>T	ENST00000317552.4	-	2	476	c.76G>A	c.(76-78)Gca>Aca	p.A26T	MID1_ENST00000380785.1_Missense_Mutation_p.A26T|MID1_ENST00000380787.1_Missense_Mutation_p.A26T|MID1_ENST00000380782.2_Missense_Mutation_p.A26T|MID1_ENST00000380779.1_Missense_Mutation_p.A26T|MID1_ENST00000380780.1_Missense_Mutation_p.A26T|MID1_ENST00000453318.2_Missense_Mutation_p.A26T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	26					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGTGTGCGCAGGGCAGT	0.557																																						uc004cte.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(76-78)Gca>Aca		Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.							115	98	104					X																	10535512		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535512C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.76G>A	X.37:g.10535512C>T	ENSP00000312678:p.Ala26Thr					MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Missense_Mutation_p.A26T|MID1_uc004cth.4_Missense_Mutation_p.A26T|MID1_uc004ctk.4_Missense_Mutation_p.A26T|MID1_uc004ctj.4_Missense_Mutation_p.A26T|MID1_uc004cti.4_Missense_Mutation_p.A26T|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Missense_Mutation_p.A26T|MID1_uc004ctn.2_Missense_Mutation_p.A26T|MID1_uc004cto.2_Missense_Mutation_p.A26T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Missense_Mutation_p.A26T|MID1_uc004ctu.3_Missense_Mutation_p.A26T|MID1_uc004ctv.3_Missense_Mutation_p.A26T|MID1_uc004ctw.3_Missense_Mutation_p.A26T|MID1_uc010ndy.2_Missense_Mutation_p.A26T|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Missense_Mutation_p.A26T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Missense_Mutation_p.A26T|MID1_uc004cuc.1_Missense_Mutation_p.A26T|MID1_uc004cud.1_Missense_Mutation_p.A26T|MID1_uc004cue.1_Missense_Mutation_p.A26T|MID1_uc004cuf.1_Missense_Mutation_p.A26T|MID1_uc004cug.1_Missense_Mutation_p.A26T	p.A26T	NM_001193277	NP_150632	O15344	TRI18_HUMAN			1	266	-			26					B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.76G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822479	0.90873	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.37897	1.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.989;0.911;0.999;0.991;0.992;0.992	T	0.02042	-1.1224	10	0.42905	T	0.14	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	26;26;26;26;26;26	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	T	26	ENSP00000414521:A26T;ENSP00000312678:A26T;ENSP00000370162:A26T;ENSP00000370156:A26T;ENSP00000370164:A26T;ENSP00000370157:A26T;ENSP00000370159:A26T;ENSP00000391154:A26T;ENSP00000387771:A26T	ENSP00000312678:A26T	A	-	1	0	MID1	10495512	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GCA		0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			T	10535512	C	T	10535512	3	4	134	1	0	0	0	0	1	0	0	0	9576	768	27	1	1963	1	MID1	23	10535512	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		10535512	144735048	49	9253											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299277	125299277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgccgtcgcgggagcCgctcacagctacggtgtcac	6	6	14	15	6	2	0	2	0	0	0	3	1	2	1	2	3	4	2	2	3	1	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:125299277C>T	ENST00000360028.2	-	1	657	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G211S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCGCGGGAGCCGCTCACAGCT	0.647																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(631-633)Ggc>Agc		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							44	46	45					X																	125299277		2203	4299	6502	SO:0001583	missense	340578							g.chrX:125299277C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.631G>A	X.37:g.125299277C>T	ENSP00000353128:p.Gly211Ser						p.G211S	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	804	-			211					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.631G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624797	0.46840	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.69806	-0.43;-0.43	4.53	3.57	0.40892	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34025	N	0.004321	T	0.79221	0.4409	M	0.86097	2.795	0.38198	D	0.940107	D	0.89917	1.0	D	0.97110	1.0	T	0.80246	-0.1462	10	0.44086	T	0.13	.	6.111	0.20100	0.2102:0.5889:0.2008:0.0	.	211	Q5VW00	DC122_HUMAN	S	211	ENSP00000441489:G211S;ENSP00000353128:G211S	ENSP00000353128:G211S	G	-	1	0	DCAF12L2	125126958	1.000000	0.71417	0.786000	0.31890	0.021000	0.10359	6.527000	0.73803	2.167000	0.68274	0.544000	0.68410	GGC		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299277	C	T	125299277	3	4	134	1	0	0	0	0	1	0	0	0	4265	652	23	2	764	2	DCAF12L2	23	125299277	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	114763765	125299277	29971283	50	9254											
FRMD7	90167	broad.mit.edu	37	chrX	131212955	131212955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactccattcacattttGgtagtagccaccaccatatg	10	12	7	12	0	1	0	1	0	0	0	2	0	2	0	4	1	2	3	4	1	3	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:131212955G>C	ENST00000298542.4	-	12	1265	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	FRMD7_ENST00000370879.1_Missense_Mutation_p.Q244E|FRMD7_ENST00000464296.1_Missense_Mutation_p.Q349E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	364					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCACATTTTGGTAGTAGCCA	0.488																																						uc004ewn.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1090-1092)Caa>Gaa		Homo sapiens FERM domain containing 7 (FRMD7), mRNA.							165	154	157					X																	131212955		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212955G>C	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1090C>G	X.37:g.131212955G>C	ENSP00000298542:p.Gln364Glu					FRMD7_uc022cdy.1_Missense_Mutation_p.Q244E|FRMD7_uc011muy.2_Missense_Mutation_p.Q349E	p.Q364E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			11	1268	-	Acute lymphoblastic leukemia(192;0.000127)		364					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1090C>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	8.071	0.770240	0.15983	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85556	-2.0;-1.66;-1.77	5.83	4.96	0.65561	.	0.210130	0.30492	N	0.009513	T	0.65471	0.2694	N	0.08118	0	0.21290	N	0.999738	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.004	T	0.50857	-0.8778	10	0.06625	T	0.88	.	7.4282	0.27111	0.078:0.0:0.6217:0.3003	.	349;364	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	E	244;364;349	ENSP00000359916:Q244E;ENSP00000298542:Q364E;ENSP00000417996:Q349E	ENSP00000298542:Q364E	Q	-	1	0	FRMD7	131040636	0.995000	0.38212	0.988000	0.46212	0.413000	0.31143	0.946000	0.29069	1.207000	0.43291	0.600000	0.82982	CAA		0.488	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		C	131212955	G	C	131212955	3	2	134	1	0	0	0	0	1	0	0	0	6055	1357	47	5	1058	5	FRMD7	23	131212955	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	5913678	131212955	24057605	51	9255											
FUCA1	2517	broad.mit.edu	37	chr1	24189688	24189688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctgtgttttgaagcCatttttcttatcaagtagat	12	17	7	5	0	2	2	1	1	1	1	2	2	2	2	1	0	2	3	1	0	6	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189688C>T	ENST00000374479.3	-	3	605	c.598G>A	c.(598-600)Ggc>Agc	p.G200S		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	200					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTTTTGAAGCCATTTTTCTTA	0.388																																						uc001bie.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(598-600)Ggc>Agc		Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.							124	115	118					1																	24189688		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24189688C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.598G>A	1.37:g.24189688C>T	ENSP00000363603:p.Gly200Ser					FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	p.G200S	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	2	681	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	200					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.598G>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738009	0.30774	.	.	ENSG00000179163	ENST00000374479	T	0.57595	0.39	5.43	0.817	0.18773	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.399736	0.32416	N	0.006136	T	0.41465	0.1160	L	0.55481	1.735	0.48762	D	0.999709	B	0.18461	0.028	B	0.26310	0.068	T	0.22208	-1.0223	10	0.07030	T	0.85	-10.4709	10.2914	0.43599	0.0:0.6521:0.0:0.3479	.	200	P04066	FUCO_HUMAN	S	200	ENSP00000363603:G200S	ENSP00000363603:G200S	G	-	1	0	FUCA1	24062275	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	2.100000	0.41777	0.285000	0.22329	0.650000	0.86243	GGC		0.388	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		T	24189688	C	T	24189688	3	4	135	1	0	0	0	0	1	0	0	0	6094	594	21	3	826	3	FUCA1	1	24189688	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		24189688	225060933	1	9256			1	29		2	2	40	C		8.566427e-05
FUCA1	2517	broad.mit.edu	37	chr1	24189727	24189727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagagtggatggaaccactCtaagagtgagtggtatagtc	13	10	13	5	0	1	3	0	1	1	2	2	5	1	5	1	3	1	1	1	3	5	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189727C>T	ENST00000374479.3	-	3	566	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	187					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGGAACCACTCTAAGAGTGAG	0.358																																						uc001bie.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(559-561)Gag>Aag		Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.							98	91	93					1																	24189727		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24189727C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.559G>A	1.37:g.24189727C>T	ENSP00000363603:p.Glu187Lys					FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	p.E187K	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	2	642	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	187					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.559G>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154417	0.78114	.	.	ENSG00000179163	ENST00000374479	T	0.58358	0.34	5.43	5.43	0.79202	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	H	0.98027	4.13	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.89290	0.3618	10	0.87932	D	0	-9.1117	19.4391	0.94811	0.0:1.0:0.0:0.0	.	187	P04066	FUCO_HUMAN	K	187	ENSP00000363603:E187K	ENSP00000363603:E187K	E	-	1	0	FUCA1	24062314	1.000000	0.71417	0.933000	0.37362	0.039000	0.13416	7.169000	0.77578	2.823000	0.97156	0.650000	0.86243	GAG		0.358	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		T	24189727	C	T	24189727	3	4	135	1	0	0	0	0	1	0	0	0	6094	922	32	3	865	3	FUCA1	1	24189727	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	39	24189727	225060894	2	9257			1	29		2	2	40	C		8.566427e-05
LRRC41	10489	broad.mit.edu	37	chr1	46745257	46745257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattgggctgggcgcttctCaaacagacggcagaaggaga	13	6	14	8	2	1	3	1	0	1	3	2	4	1	3	0	4	1	3	0	4	3	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:46745257C>G	ENST00000343304.6	-	8	2335	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	684					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCGCTTCTCAAACAGACGG	0.552																																						uc001cpn.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2050-2052)Gag>Cag		Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.							97	111	106					1																	46745257		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745257C>G	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2050G>C	1.37:g.46745257C>G	ENSP00000343298:p.Glu684Gln					LRRC41_uc010omb.2_Missense_Mutation_p.E684Q	p.E684Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN			7	2094	-	Acute lymphoblastic leukemia(166;0.155)		684					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2050G>C	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221881	0.58560	.	.	ENSG00000132128	ENST00000343304	T	0.53640	0.61	4.57	4.57	0.56435	.	0.177995	0.38492	N	0.001668	T	0.54886	0.1886	N	0.19112	0.55	0.42626	D	0.993368	D;D	0.76494	0.999;0.994	D;D	0.80764	0.994;0.909	T	0.60821	-0.7187	10	0.52906	T	0.07	-28.3577	17.5361	0.87832	0.0:1.0:0.0:0.0	.	684;684	Q15345-3;Q15345	.;LRC41_HUMAN	Q	684	ENSP00000343298:E684Q	ENSP00000343298:E684Q	E	-	1	0	LRRC41	46517844	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.131000	0.64751	2.368000	0.80403	0.561000	0.74099	GAG		0.552	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		G	46745257	C	G	46745257	3	3	135	1	0	0	0	0	1	0	0	0	8999	835	29	5	400	5	LRRC41	1	46745257	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	22555530	46745257	202505364	3	9258											
IFI16	3428	broad.mit.edu	37	chr1	158986412	158986412	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctctcctgcaggagcCggcatgtccacagccatggg	6	7	11	17	1	1	0	0	0	1	0	4	1	3	1	6	3	3	2	6	3	0	0	rs201986350		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:158986412C>G	ENST00000295809.7	+	4	726	c.471C>G	c.(469-471)gcC>gcG	p.A157A	IFI16_ENST00000368132.3_Silent_p.A157A|IFI16_ENST00000340979.6_Silent_p.A157A|IFI16_ENST00000359709.3_Intron|IFI16_ENST00000368131.4_Silent_p.A157A|IFI16_ENST00000448393.2_Silent_p.A157A|IFI16_ENST00000430894.2_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	157					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTGCAGGAGCCGGCATGTCCA	0.522																																						uc001ftg.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(469-471)gcC>gcG		Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.							111	99	103					1																	158986412		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158986412C>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.471C>G	1.37:g.158986412C>G						IFI16_uc010pis.2_Intron|IFI16_uc010pit.2_Silent_p.A157A|IFI16_uc001ftf.1_Silent_p.A157A	p.A157A	NM_005531	NP_005522	Q16666	IF16_HUMAN			3	761	+	all_hematologic(112;0.0429)		157					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.471C>G																																																																																					0.522	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		G	158986412	C	G	158986412	2	3	135	1	0	0	0	0	0	0	0	1	7511	639	23	5		5	IFI16	1	158986412	Silent	SNP	C	TCGA-14-0871-01A-01W-0424-08	112241155	158986412	90264209	4	9259											
NR5A2	2494	broad.mit.edu	37	chr1	200017711	200017711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctattcatatatggataGttaccagacgagctctccag	11	11	10	9	1	2	1	1	0	1	1	3	3	2	2	2	2	2	3	2	2	5	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:200017711G>C	ENST00000367362.3	+	5	1121	c.875G>C	c.(874-876)aGt>aCt	p.S292T	NR5A2_ENST00000544748.1_Missense_Mutation_p.S220T|NR5A2_ENST00000236914.3_Missense_Mutation_p.S246T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	292					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TATATGGATAGTTACCAGACG	0.488																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(874-876)aGt>aCt		Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.							73	73	73					1																	200017711		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017711G>C	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.875G>C	1.37:g.200017711G>C	ENSP00000356331:p.Ser292Thr					NR5A2_uc001gvc.3_Missense_Mutation_p.S246T|NR5A2_uc009wzh.3_Missense_Mutation_p.S252T|NR5A2_uc010pph.2_Missense_Mutation_p.S220T	p.S292T	NM_205860	NP_995582	O00482	NR5A2_HUMAN			4	1081	+	Prostate(682;0.19)		292					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.875G>C	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.875|5.875	0.345602|0.345602	0.11126|0.11126	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.94330|.	-3.34;-3.4;-3.38|.	5.33|5.33	4.41|4.41	0.53225|0.53225	Nuclear hormone receptor, ligand-binding (1);|.	0.388050|.	0.34777|.	N|.	0.003688|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.03608|0.03608	-0.345|-0.345	0.26474|0.26474	N|N	0.975238|0.975238	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.15150|0.15150	-1.0447|-1.0447	9|5	.|.	.|.	.|.	.|.	16.4106|16.4106	0.83712|0.83712	0.0:0.1316:0.8683:0.0|0.0:0.1316:0.8683:0.0	.|.	246;292|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	T|L	292;246;220;212|213	ENSP00000356331:S292T;ENSP00000236914:S246T;ENSP00000439116:S220T|.	.|.	S|V	+|+	2|1	0|0	NR5A2|NR5A2	198284334|198284334	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.971000|0.971000	0.66376|0.66376	4.463000|4.463000	0.60128|0.60128	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	AGT|GTT		0.488	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			C	200017711	G	C	200017711	3	2	135	1	0	0	0	0	1	0	0	0	10636	1029	36	5	893	5	NR5A2	1	200017711	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	41031299	200017711	49232910	5	9260											
OR2T3	343173	broad.mit.edu	37	chr1	248637231	248637231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgctgaagctctccTgctctgacgtctccctctat	4	13	7	17	1	4	2	0	2	4	0	6	2	4	2	3	0	4	3	3	0	2	1	rs369559398		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:248637231T>C	ENST00000359594.2	+	1	605	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGCTCTCCTGCTCTGACGT	0.517																																						uc001iel.1																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(580-582)Tgc>Cgc		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.		T	ARG/CYS	1,4307		0,1,2153	140	116	124		580	2.4	0	1		124	0,8526		0,0,4263	no	missense	OR2T3	NM_001005495.1	180	0,1,6416	CC,CT,TT		0.0,0.0232,0.0078	probably-damaging	194/319	248637231	1,12833	2154	4263	6417	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637231T>C		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.580T>C	1.37:g.248637231T>C	ENSP00000352604:p.Cys194Arg						p.C194R	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	580	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		194					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.580T>C	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	t	16.74	3.207838	0.58343	2.32E-4	0.0	ENSG00000196539	ENST00000359594	T	0.00460	7.27	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02970	0.0088	H	0.99444	4.57	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.01578	-1.1320	9	0.87932	D	0	.	9.3109	0.37903	0.0:0.0:0.0:1.0	.	194	Q8NH03	OR2T3_HUMAN	R	194	ENSP00000352604:C194R	ENSP00000352604:C194R	C	+	1	0	OR2T3	246703854	1.000000	0.71417	0.006000	0.13384	0.313000	0.28021	4.782000	0.62396	0.841000	0.35020	0.156000	0.16432	TGC		0.517	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		C	248637231	T	C	248637231	3	2	135	1	0	0	0	0	1	0	0	0	11023	1580	55	4	582	4	OR2T3	1	248637231	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	48619520	248637231	613390	6	9261											
APOB	338	broad.mit.edu	37	chr2	21247830	21247830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggatcccctgcagagtgCgggcacccatcagaagcagc	9	4	15	13	1	1	2	1	0	0	2	2	3	2	3	3	3	4	3	3	3	1	0	rs148190577	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:21247830C>T	ENST00000233242.1	-	16	2538	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H	APOB_ENST00000399256.4_Intron	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	804				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGAGTGCGGGCACCCAT	0.587													C|||	2	0.000399361	0.0015	0	5008	,	,		15250	0		0	False		,,,				2504	0					uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2410-2412)cGc>cAc		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)	C	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	68	73	71		2411	-7.4	0	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	APOB	NM_000384.2	29	0,8,6495	TT,TC,CC		0.0116,0.1589,0.0615	benign	804/4564	21247830	8,12998	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21247830C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2411G>A	2.37:g.21247830C>T	ENSP00000233242:p.Arg804His						p.R804H	NM_000384	NP_000375	P04114	APOB_HUMAN			15	2539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		804	LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2411G>A	CCDS1703.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.17	2.752876	0.49362	0.001589	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.17054	2.3	5.7	-7.43	0.01383	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	1.607850	0.03285	N	0.186746	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	0.999992	B	0.15473	0.013	B	0.12156	0.007	T	0.13980	-1.0489	10	0.23891	T	0.37	.	18.9834	0.92763	0.0:0.2157:0.0:0.7843	.	804	P04114	APOB_HUMAN	H	804	ENSP00000233242:R804H	ENSP00000233242:R804H	R	-	2	0	APOB	21101335	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.734000	0.01848	-1.558000	0.01690	0.655000	0.94253	CGC		0.587	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21247830	C	T	21247830	3	4	135	1	0	0	0	0	1	0	0	0	785	768	27	1	11336	1	APOB	2	21247830	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		21247830	221951543	7	9262											
NRXN1	9378	broad.mit.edu	37	chr2	50765702	50765702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccccaggtacaactcaTcatccaggtccagaatctca	11	7	6	17	0	3	1	3	0	1	1	6	1	5	1	5	2	2	1	5	2	3	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:50765702T>A	ENST00000406316.2	-	10	3308	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.D651V|NRXN1_ENST00000406859.3_Missense_Mutation_p.D611V|NRXN1_ENST00000402717.3_Missense_Mutation_p.D603V|NRXN1_ENST00000401669.2_Missense_Mutation_p.D611V|NRXN1_ENST00000405472.3_Missense_Mutation_p.D603V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	611	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTACAACTCATCATCCAGGTC	0.527																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1831-1833)gAt>gTt		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							75	82	80					2																	50765702		2164	4279	6443	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765702T>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1832A>T	2.37:g.50765702T>A	ENSP00000384311:p.Asp611Val					NRXN1_uc002rxb.4_Missense_Mutation_p.D283V|NRXN1_uc021vhg.1_Missense_Mutation_p.D651V|NRXN1_uc021vhi.1_Missense_Mutation_p.D647V|NRXN1_uc021vhj.1_Missense_Mutation_p.D607V|NRXN1_uc002rxc.1_Non-coding_Transcript	p.D611V	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2753	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	611			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1832A>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445465	0.84101	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.64567	1.98	0.58432	D	0.999999	P;P;D	0.53151	0.82;0.899;0.958	P;P;P	0.62740	0.516;0.689;0.906	T	0.80516	-0.1348	10	0.66056	D	0.02	.	15.8855	0.79244	0.0:0.0:0.0:1.0	.	651;611;603	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	651;611;603;611;652;603;611	ENSP00000385142:D651V;ENSP00000384311:D611V;ENSP00000434015:D603V;ENSP00000385017:D611V;ENSP00000385434:D603V;ENSP00000385681:D611V	ENSP00000385017:D611V	D	-	2	0	NRXN1	50619206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.289000	0.72696	2.150000	0.67090	0.455000	0.32223	GAT		0.527	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50765702	T	A	50765702	3	1	135	1	0	0	0	0	1	0	0	0	10665	1435	50	5	3010	5	NRXN1	2	50765702	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	29517872	50765702	192433671	8	9263											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046427	69046427	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagacctccgaatttcTaggacagacagcttcagtag	13	9	9	10	1	2	3	1	1	1	2	3	5	3	4	2	1	1	2	2	1	4	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:69046427T>C	ENST00000295381.3	+	9	1592	c.1173T>C	c.(1171-1173)tcT>tcC	p.S391S	ARHGAP25_ENST00000409220.1_Silent_p.S385S|ARHGAP25_ENST00000497079.1_Silent_p.S385S|ARHGAP25_ENST00000479844.1_Silent_p.S85S|ARHGAP25_ENST00000467265.1_Silent_p.S352S|ARHGAP25_ENST00000409030.3_Silent_p.S384S|ARHGAP25_ENST00000409202.3_Silent_p.S392S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	391					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCGAATTTCTAGGACAGACA	0.532																																						uc010fdg.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1174-1176)tcT>tcC		Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.							89	84	86					2																	69046427		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046427T>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1173T>C	2.37:g.69046427T>C						ARHGAP25_uc010yql.2_Silent_p.S352S|ARHGAP25_uc002sev.3_Silent_p.S385S|ARHGAP25_uc002sew.3_Silent_p.S384S|ARHGAP25_uc002sex.3_Silent_p.S385S	p.S392S	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			8	1595	+			391					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.1176T>C		.	.	.	.	.	.	.	.	.	.	T	9.888	1.203362	0.22121	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.22	1.34	0.21922	.	.	.	.	.	T	0.50531	0.1621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	4.4033	0.11397	0.1395:0.2452:0.0:0.6152	.	.	.	.	P	251	.	.	L	+	2	0	ARHGAP25	68899931	0.071000	0.21146	0.989000	0.46669	0.916000	0.54674	-0.782000	0.04643	0.133000	0.18654	0.460000	0.39030	CTA		0.532	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		C	69046427	T	C	69046427	2	2	135	1	0	0	0	0	0	0	0	1	874	1509	53	4		4	ARHGAP25	2	69046427	Silent	SNP	T	TCGA-14-0871-01A-01W-0424-08	18280725	69046427	174152946	9	9264											
LMAN2L	81562	broad.mit.edu	37	chr2	97400183	97400183	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtaccagattgccaaGccatccccatgcagattctt	9	13	7	12	0	1	2	0	0	1	2	2	2	2	2	5	0	4	2	5	0	2	5			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:97400183G>C	ENST00000264963.4	-	3	409	c.387C>G	c.(385-387)ggC>ggG	p.G129G	LMAN2L_ENST00000377079.4_Silent_p.G129G|LMAN2L_ENST00000426463.2_Missense_Mutation_p.A12G|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_Missense_Mutation_p.A12G	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	129	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGATTGCCAAGCCATCCCCAT	0.473																																						uc002swv.3																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(385-387)ggC>ggG		Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.							247	222	230					2																	97400183		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97400183G>C	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.387C>G	2.37:g.97400183G>C						LMAN2L_uc002swu.3_Silent_p.G129G|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_Missense_Mutation_p.A12G|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_Missense_Mutation_p.A12G|LMAN2L_uc010yux.2_Missense_Mutation_p.A12G	p.G129G	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN			2	423	-			129			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.387C>G	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943544	0.53079	.	.	ENSG00000114988	ENST00000426463;ENST00000534882	T;T	0.78924	-1.22;-1.11	6.06	6.06	0.98353	.	.	.	.	.	T	0.70657	0.3249	.	.	.	0.80722	D	1	B;B	0.18610	0.029;0.014	B;B	0.19666	0.026;0.007	T	0.62969	-0.6741	7	.	.	.	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	12;12	B4DVH1;B4DSH3	.;.	G	12	ENSP00000396391:A12G;ENSP00000438501:A12G	.	A	-	2	0	LMAN2L	96763910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.362000	0.34148	2.880000	0.98712	0.650000	0.86243	GCT		0.473	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		C	97400183	G	C	97400183	2	2	135	1	0	0	0	0	0	0	0	1	8839	958	34	5		5	LMAN2L	2	97400183	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	28353756	97400183	145799190	10	9265											
MFSD9	84804	broad.mit.edu	37	chr2	103340253	103340253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccgaccacggggcccaaGatgaagcccacaccggaggc	11	1	12	17	3	0	2	0	1	0	1	0	4	0	3	6	4	1	0	6	4	2	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:103340253G>C	ENST00000258436.5	-	5	586	c.543C>G	c.(541-543)atC>atG	p.I181M		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	181					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGGGCCCAAGATGAAGCCCA	0.502																																						uc002tcb.2																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(541-543)atC>atG		Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.							85	86	86					2																	103340253		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103340253G>C		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.543C>G	2.37:g.103340253G>C	ENSP00000258436:p.Ile181Met					MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.I120M	p.I181M	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			4	611	-			181					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.543C>G	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293479	0.40594	.	.	ENSG00000135953	ENST00000258436	T	0.60040	0.22	4.99	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.63428	1.95	0.41724	D	0.989524	D	0.76494	0.999	D	0.76575	0.988	T	0.70985	-0.4723	10	0.52906	T	0.07	-14.1973	10.1754	0.42935	0.1568:0.0:0.8432:0.0	.	181	Q8NBP5	MFSD9_HUMAN	M	181	ENSP00000258436:I181M	ENSP00000258436:I181M	I	-	3	3	MFSD9	102706685	0.993000	0.37304	0.999000	0.59377	0.352000	0.29268	0.717000	0.25851	2.291000	0.77112	0.467000	0.42956	ATC		0.502	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		C	103340253	G	C	103340253	3	2	135	1	0	0	0	0	1	0	0	0	9539	932	33	5	889	5	MFSD9	2	103340253	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	5940070	103340253	139859120	11	9266											
FIGN	55137	broad.mit.edu	37	chr2	164466661	164466661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataattttctctgcttctcCtaaccacttggcgactagtc	8	15	6	12	1	2	0	0	0	2	0	5	2	2	0	2	1	2	1	2	1	3	7	rs367860574		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:164466661C>T	ENST00000333129.3	-	3	1995	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	561					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGCTTCTCCTAACCACTTG	0.493																																						uc002uck.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1681-1683)Gga>Aga		Homo sapiens fidgetin (FIGN), mRNA.		C	ARG/GLY	1,3863		0,1,1931	56	55	56		1681	5.4	1	2		56	0,8254		0,0,4127	no	missense	FIGN	NM_018086.2	125	0,1,6058	TT,TC,CC		0.0,0.0259,0.0083	probably-damaging	561/760	164466661	1,12117	1932	4127	6059	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466661C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1681G>A	2.37:g.164466661C>T	ENSP00000333836:p.Gly561Arg						p.G561R	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			2	1992	-			561					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1681G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912486	0.52439	2.59E-4	0.0	ENSG00000182263	ENST00000333129	D	0.95069	-3.6	5.36	5.36	0.76844	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.108661	0.64402	D	0.000006	D	0.97816	0.9283	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98314	1.0525	10	0.87932	D	0	-9.7472	12.7607	0.57363	0.0:0.9248:0.0:0.0752	.	561	Q5HY92	FIGN_HUMAN	R	561	ENSP00000333836:G561R	ENSP00000333836:G561R	G	-	1	0	FIGN	164174907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.051000	0.71072	2.678000	0.91216	0.563000	0.77884	GGA		0.493	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164466661	C	T	164466661	3	4	135	1	0	0	0	0	1	0	0	0	5891	690	24	3	602	3	FIGN	2	164466661	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	61126408	164466661	78732712	12	9267											
CPO	130749	broad.mit.edu	37	chr2	207827161	207827161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcctctagaaactgccaAgatcaaacattctgtgggac	12	9	10	10	0	3	2	1	0	2	2	3	3	3	3	2	2	4	0	2	2	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:207827161A>T	ENST00000272852.3	+	7	646	c.600A>T	c.(598-600)caA>caT	p.Q200H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	200						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAAACTGCCAAGATCAAACAT	0.448																																						uc002vby.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(598-600)caA>caT		Homo sapiens carboxypeptidase O (CPO), mRNA.							173	171	171					2																	207827161		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827161A>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.600A>T	2.37:g.207827161A>T	ENSP00000272852:p.Gln200His						p.Q200H	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	6	646	+			200					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.600A>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	A	5.263	0.234007	0.09969	.	.	ENSG00000144410	ENST00000272852	T	0.29142	1.58	5.5	1.82	0.25136	Peptidase M14, carboxypeptidase A (2);	0.924814	0.09294	N	0.821866	T	0.14227	0.0344	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29671	-1.0004	10	0.37606	T	0.19	.	7.9491	0.30003	0.7517:0.0:0.2483:0.0	.	200	Q8IVL8	CBPO_HUMAN	H	200	ENSP00000272852:Q200H	ENSP00000272852:Q200H	Q	+	3	2	CPO	207535406	0.000000	0.05858	0.209000	0.23619	0.018000	0.09664	-0.268000	0.08607	0.165000	0.19558	0.454000	0.30748	CAA		0.448	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		T	207827161	A	T	207827161	3	4	135	1	0	0	0	0	1	0	0	0	3820	69	3	5	626	5	CPO	2	207827161	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	43360500	207827161	35372212	13	9268											
SPHKAP	80309	broad.mit.edu	37	chr2	228881144	228881144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatttgacaagcgctcaCggctgtgtctccacctctca	8	11	9	13	2	3	1	2	1	2	0	5	2	3	2	2	2	1	2	2	2	1	1	rs150119101		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:228881144C>T	ENST00000392056.3	-	7	4472	c.4426G>A	c.(4426-4428)Gtg>Atg	p.V1476M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1476M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1476						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGCGCTCACGGCTGTGTCT	0.463																																						uc002vpq.2																			0		p.A1475V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4426-4428)Gtg>Atg		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							146	146	146					2																	228881144		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881144C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4426G>A	2.37:g.228881144C>T	ENSP00000375909:p.Val1476Met					SPHKAP_uc002vpp.2_Missense_Mutation_p.V1476M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1476M	p.V1476M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	4473	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1476					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4426G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878766	0.17395	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.73;2.72	5.0	-9.99	0.00435	.	2.388690	0.01208	N	0.007774	T	0.06962	0.0177	N	0.16478	0.41	0.09310	N	1	B;B;B	0.21225	0.013;0.019;0.053	B;B;B	0.12837	0.002;0.003;0.008	T	0.16188	-1.0411	10	0.41790	T	0.15	.	5.7455	0.18118	0.0846:0.1249:0.4784:0.3121	.	507;1476;1476	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1476	ENSP00000375909:V1476M;ENSP00000339886:V1476M	ENSP00000339886:V1476M	V	-	1	0	SPHKAP	228589388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.864000	0.00724	-2.397000	0.00581	-0.254000	0.11334	GTG		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228881144	C	T	228881144	3	4	135	1	0	0	0	0	1	0	0	0	15047	536	19	1	700	1	SPHKAP	2	228881144	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	21053983	228881144	14318229	14	9269											
COL7A1	1294	broad.mit.edu	37	chr3	48612126	48612126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccctgtctcctttgggaCcttggtcaccattgctgccc	4	13	8	16	0	3	0	2	0	1	0	4	1	3	1	5	2	2	1	5	2	0	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:48612126C>G	ENST00000328333.8	-	77	6484	c.6377G>C	c.(6376-6378)gGt>gCt	p.G2126A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2094A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2126	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTTTGGGACCTTGGTCACC	0.607																																						uc003ctz.2																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6376-6378)gGt>gCt		Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.							73	76	75					3																	48612126		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612126C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6377G>C	3.37:g.48612126C>G	ENSP00000332371:p.Gly2126Ala						p.G2126A	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	76	6378	-			2126			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6377G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657597	0.29425	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99607	-6.27;-6.27	5.13	5.13	0.70059	.	0.000000	0.40908	D	0.000994	D	0.99785	0.9910	H	0.96996	3.92	0.48762	D	0.999703	D	0.89917	1.0	D	0.97110	1.0	D	0.96914	0.9669	10	0.87932	D	0	.	17.5735	0.87941	0.0:1.0:0.0:0.0	.	2126	Q02388	CO7A1_HUMAN	A	2126;2094	ENSP00000332371:G2126A;ENSP00000412569:G2094A	ENSP00000332371:G2126A	G	-	2	0	COL7A1	48587130	1.000000	0.71417	0.989000	0.46669	0.402000	0.30811	4.685000	0.61693	2.379000	0.81126	0.462000	0.41574	GGT		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		G	48612126	C	G	48612126	3	3	135	1	0	0	0	0	1	0	0	0	3704	507	18	5	2625	5	COL7A1	3	48612126	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		48612126	149410304	15	9270											
C3orf38	285237	broad.mit.edu	37	chr3	88205314	88205314	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggaccacagcacttctgGcatgatgtgaagcttaggtt	9	11	13	8	0	1	2	0	2	1	0	1	3	1	3	1	4	2	4	1	4	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:88205314G>A	ENST00000318887.3	+	3	829	c.519G>A	c.(517-519)tgG>tgA	p.W173*	C3orf38_ENST00000486971.1_Missense_Mutation_p.G138D	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	173					apoptotic process (GO:0006915)			p.W171*(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCACTTCTGGCATGATGTGA	0.418																																						uc003dqw.3																			1	Substitution - Nonsense(1)	p.W171*(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(517-519)tgG>tgA		Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.							82	76	78					3																	88205314		2203	4300	6503	SO:0001587	stop_gained	285237				apoptosis			g.chr3:88205314G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.519G>A	3.37:g.88205314G>A	ENSP00000322469:p.Trp173*						p.W173*	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	2	829	+		Lung NSC(201;0.17)	173					B2R8X6|Q8TC85	Nonsense_Mutation	SNP	ENST00000318887.3	37	c.519G>A	CCDS2921.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.066356|7.066356	0.98040|0.98040	.|.	.|.	ENSG00000179021|ENSG00000179021	ENST00000486971|ENST00000318887	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47783|.	0.1464|.	.|.	.|.	.|.	0.43050|0.43050	D|D	0.994659|0.994659	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36744|.	-0.9735|.	5|.	0.10377|0.02654	T|T	0.69|1	-7.7031|-7.7031	19.3318|19.3318	0.94293|0.94293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	138|173	.|.	ENSP00000418774:G138D|ENSP00000322469:W173X	G|W	+|+	2|3	0|0	C3orf38|C3orf38	88288004|88288004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.172000|7.172000	0.77604|0.77604	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.418	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		A	88205314	G	A	88205314	4	1	135	1	0	0	0	0	0	1	0	0	2228	1212	42	3	529	3	C3orf38	3	88205314	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	39593188	88205314	109817116	16	9271											
DRD3	1814	broad.mit.edu	37	chr3	113847759	113847759	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagcagacaatgaaggccCctaagttgccaaataagaga	16	5	10	10	0	0	3	0	1	0	2	0	4	0	3	4	1	2	2	4	1	5	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:113847759C>T	ENST00000460779.1	-	8	1296	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	DRD3_ENST00000295881.7_Splice_Site_p.G303E|DRD3_ENST00000383673.2_Splice_Site_p.G336E|DRD3_ENST00000467632.1_Splice_Site_p.G336E	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	336					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AATGAAGGCCCCTAAGTTGCC	0.478																																						uc003ebd.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.e8-1		Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						94	97	96					3																	113847759		2203	4300	6503	SO:0001630	splice_region_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847759C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.1007-1G>A	3.37:g.113847759C>T						DRD3_uc010hqn.1_Splice_Site_p.G336_splice|DRD3_uc003ebb.1_Splice_Site_p.G303_splice|DRD3_uc003ebc.1_Splice_Site_p.G336_splice	p.G336_splice	NM_000796	NP_000787	P35462	DRD3_HUMAN			8	1430	-			336					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.1007_splice	CCDS2978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871976|4.871976	0.91587|0.91587	.|.	.|.	ENSG00000151577|ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881|ENST00000281274	T;T;T;T|.	0.38401|.	1.14;1.14;1.14;1.14|.	5.36|5.36	5.36|5.36	0.76844|0.76844	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91061|.	0.7187|.	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.998;0.999|.	D|.	0.93124|.	0.6527|.	10|.	0.87932|0.45353	D|T	0|0.12	.|.	19.2856|19.2856	0.94067|0.94067	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	336;336;336;303|.	A1A4V4;A8K8E4;P35462;E9PCM4|.	.;.;DRD3_HUMAN;.|.	E|X	336;336;336;303|303	ENSP00000419402:G336E;ENSP00000420662:G336E;ENSP00000373169:G336E;ENSP00000295881:G303E|.	ENSP00000295881:G303E|ENSP00000281274:W303X	G|W	-|-	2|3	0|0	DRD3|DRD3	115330449|115330449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	7.651000|7.651000	0.83577|0.83577	2.788000|2.788000	0.95919|0.95919	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.478	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	Missense_Mutation	T	113847759	C	T	113847759	5	4	135	1	0	0	0	0	0	0	1	0	4758	637	22	3	199	3	DRD3	3	113847759	Splice_Site	SNP	C	TCGA-14-0871-01A-01W-0424-08	25642445	113847759	84174671	17	9272											
PPM1L	151742	broad.mit.edu	37	chr3	160786689	160786689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatccgctgaaaaatctcaAcgtggtcatcccagacccag	12	9	7	13	2	2	2	2	1	1	1	5	2	4	2	3	1	1	1	3	1	4	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:160786689A>G	ENST00000498165.1	+	4	928	c.827A>G	c.(826-828)aAc>aGc	p.N276S	PPM1L_ENST00000295839.9_Missense_Mutation_p.N149S|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.N97S	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	276	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAAAATCTCAACGTGGTCATC	0.522																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(826-828)aAc>aGc		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.							96	89	92					3																	160786689		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786689A>G	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	16381	protein-coding gene	gene with protein product	"PP2Cepsilon", "Protein phosphatase 2C epsilon isoform"	611931	"protein phosphatase 1 (formerly 2C)-like"			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.827A>G	3.37:g.160786689A>G	ENSP00000417659:p.Asn276Ser					PPM1L_uc003fds.3_Missense_Mutation_p.N97S|PPM1L_uc003fdt.3_Missense_Mutation_p.N149S|PPM1L_uc010hwf.3_Non-coding_Transcript	p.N276S	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	928	+			276			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.827A>G	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997484	0.35226	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.09073	3.02;3.02;3.02	5.19	4.01	0.46588	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	N	0.16368	0.405	0.58432	D	0.999992	B;B	0.31026	0.134;0.304	B;B	0.33960	0.041;0.173	T	0.44081	-0.9351	10	0.35671	T	0.21	.	10.6126	0.45432	0.8559:0.0:0.0:0.1441	.	149;276	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	S	276;97;149	ENSP00000417659:N276S;ENSP00000420746:N97S;ENSP00000295839:N149S	ENSP00000295839:N149S	N	+	2	0	PPM1L	162269383	1.000000	0.71417	0.986000	0.45419	0.649000	0.38597	8.935000	0.92923	0.804000	0.34136	-0.341000	0.08007	AAC		0.522	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		G	160786689	A	G	160786689	3	3	135	1	0	0	0	0	1	0	0	0	12344	43	2	4	841	4	PPM1L	3	160786689	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	46938930	160786689	37235741	18	9273											
PCYT1A	5130	broad.mit.edu	37	chr3	195969479	195969479	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcactgccagcagatgaAtaaggaatatcatcatgggc	14	9	9	9	0	4	2	4	1	0	1	4	3	4	3	1	2	2	1	1	2	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:195969479A>C	ENST00000292823.2	-	7	691	c.519T>G	c.(517-519)taT>taG	p.Y173*	PCYT1A_ENST00000419333.1_Nonsense_Mutation_p.Y173*|PCYT1A_ENST00000431016.1_Nonsense_Mutation_p.Y173*	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	173					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CAGCAGATGAATAAGGAATAT	0.428																																						uc003fwg.3																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(517-519)taT>taG		Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	Choline(DB00122)						107	98	101					3																	195969479		2203	4300	6503	SO:0001587	stop_gained	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195969479A>C	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.519T>G	3.37:g.195969479A>C	ENSP00000292823:p.Tyr173*					PCYT1A_uc003fwh.3_Nonsense_Mutation_p.Y173*	p.Y173*	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	6	692	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		173			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Nonsense_Mutation	SNP	ENST00000292823.2	37	c.519T>G	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932320	0.52866	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	.	.	.	6.14	-5.06	0.02946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0328	17.2731	0.87107	0.406:0.0:0.594:0.0	.	.	.	.	X	173;173;134;173;173;46;107	.	ENSP00000292823:Y173X	Y	-	3	2	PCYT1A	197453876	0.998000	0.40836	0.776000	0.31678	0.966000	0.64601	0.547000	0.23299	-1.183000	0.02723	-0.256000	0.11100	TAT		0.428	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		C	195969479	A	C	195969479	4	2	135	1	0	0	0	0	0	1	0	0	11610	108	4	5	600	5	PCYT1A	3	195969479	Nonsense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	35182790	195969479	2052951	19	9274											
CYP2U1	113612	broad.mit.edu	37	chr4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctccatcatcagcaatgCcgtctctaacatcatttgct	9	15	4	13	1	5	0	3	0	2	0	7	0	5	0	2	0	4	2	2	0	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:108866315C>T	ENST00000332884.6	+	2	955	c.680C>T	c.(679-681)gCc>gTc	p.A227V	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	227					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438																																						uc003hyp.3																			0		p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(679-681)gCc>gTc		Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.							138	134	135					4																	108866315		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866315C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.680C>T	4.37:g.108866315C>T	ENSP00000333212:p.Ala227Val					CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	p.A227V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	1	763	+		Hepatocellular(203;0.217)	227					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.680C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974651	0.92919	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	.	0.101545	0.64402	D	0.000002	D	0.83871	0.5348	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85220	0.1026	10	0.62326	D	0.03	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	227	Q7Z449	CP2U1_HUMAN	V	227;184;18	ENSP00000333212:A227V;ENSP00000423667:A18V	ENSP00000333212:A227V	A	+	2	0	CYP2U1	109085764	1.000000	0.71417	0.951000	0.38953	0.973000	0.67179	5.759000	0.68785	2.652000	0.90054	0.655000	0.94253	GCC		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		T	108866315	C	T	108866315	3	4	135	1	0	0	0	0	1	0	0	0	4175	739	26	3	686	3	CYP2U1	4	108866315	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		108866315	82287961	20	9275											
ANK2	287	broad.mit.edu	37	chr4	114279919	114279919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggacatggcaagcaTcgcaccagataatagaagca	16	4	12	9	1	0	2	0	0	0	2	1	4	0	4	1	3	2	4	1	3	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:114279919T>C	ENST00000357077.4	+	38	10198	c.10145T>C	c.(10144-10146)aTc>aCc	p.I3382T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I3349T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3382					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGCAAGCATCGCACCAGAT	0.463																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10144-10146)aTc>aCc		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							102	103	103					4																	114279919		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279919T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10145T>C	4.37:g.114279919T>C	ENSP00000349588:p.Ile3382Thr					ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	p.I3382T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	37	10245	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3349					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10145T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.867253	0.00547	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95980	-0.2;-0.22;-3.87	5.49	-0.168	0.13343	.	0.621181	0.15117	N	0.279607	D	0.84352	0.5453	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.72750	-0.4199	10	0.23302	T	0.38	.	1.742	0.02954	0.3498:0.355:0.1627:0.1326	.	3349;3382	Q01484;Q01484-4	ANK2_HUMAN;.	T	3382;3349;392	ENSP00000349588:I3382T;ENSP00000264366:I3349T;ENSP00000422498:I392T	ENSP00000264366:I3349T	I	+	2	0	ANK2	114499368	0.180000	0.23148	0.000000	0.03702	0.092000	0.18411	0.857000	0.27831	0.014000	0.14944	-1.017000	0.02453	ATC		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114279919	T	C	114279919	3	2	135	1	0	0	0	0	1	0	0	0	621	1435	50	4	10360	4	ANK2	4	114279919	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	5413604	114279919	76874357	21	9276											
MLF1IP	79682	broad.mit.edu	37	chr4	185631267	185631267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaattcaggcaaaacaatAttcaactccttgatgtcact	15	12	4	10	0	4	1	4	1	0	0	5	1	5	1	1	1	2	1	1	1	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:185631267A>G	ENST00000281453.5	-	8	826	c.756T>C	c.(754-756)aaT>aaC	p.N252N	MLF1IP_ENST00000506535.1_5'UTR|MLF1IP_ENST00000541971.1_Silent_p.N252N	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCAAAACAATATTCAACTCCT	0.348																																						uc003iwq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13						c.(754-756)aaT>aaC		Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.							138	126	130					4																	185631267		2203	4300	6503	SO:0001819	synonymous_variant	79682				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185631267A>G																												ENST00000281453.5:c.756T>C	4.37:g.185631267A>G						MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.N252N	p.N252N	NM_024629	NP_078905	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	7	826	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	252						Silent	SNP	ENST00000281453.5	37	c.756T>C	CCDS3838.1																																																																																				0.348	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			G	185631267	A	G	185631267	2	3	135	1	0	0	0	0	0	0	0	1	9615	446	16	4		4	MLF1IP	4	185631267	Silent	SNP	A	TCGA-14-0871-01A-01W-0424-08	71351348	185631267	5523009	22	9277											
MTRR	4552	broad.mit.edu	37	chr5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgggttctctaggtctcgGtgattcagaatacacctact	8	15	9	9	1	3	2	1	1	2	1	5	2	3	2	1	3	2	1	1	3	4	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:7875377G>A	ENST00000264668.2	+	4	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_ENST00000440940.2_Missense_Mutation_p.G97D|MTRR_ENST00000341013.6_Missense_Mutation_p.V46M|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	124	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348																																						uc003jed.3																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(370-372)gGt>gAt		Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						111	118	116					5																	7875377		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7875377G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.371G>A	5.37:g.7875377G>A	ENSP00000264668:p.Gly124Asp					MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	p.G124D	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			3	401	+			124			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.371G>A	CCDS3874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488936|3.488936	0.64074|0.64074	.|.	.|.	ENSG00000124275|ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217|ENST00000341013	D;D;D;D|T	0.92965|0.59502	-3.14;-3.14;-3.14;-3.14|0.26	5.46|5.46	5.46|5.46	0.80206|0.80206	Flavodoxin/nitric oxide synthase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84804|0.84804	0.5553|0.5553	H|H	0.96861|0.96861	3.895|3.895	0.27365|0.27365	N|N	0.955869|0.955869	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.81387|0.81387	-0.0956|-0.0956	10|7	0.87932|0.72032	D|D	0|0.01	-34.0986|-34.0986	19.6891|19.6891	0.95991|0.95991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124|.	Q9UBK8|.	MTRR_HUMAN|.	D|M	124;97;97;97|46	ENSP00000264668:G124D;ENSP00000402510:G97D;ENSP00000424599:G97D;ENSP00000421318:G97D|ENSP00000341918:V46M	ENSP00000264668:G124D|ENSP00000341918:V46M	G|V	+|+	2|1	0|0	MTRR|MTRR	7928377|7928377	1.000000|1.000000	0.71417|0.71417	0.795000|0.795000	0.32087|0.32087	0.062000|0.062000	0.15995|0.15995	8.304000|8.304000	0.89958|0.89958	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.348	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			A	7875377	G	A	7875377	3	1	135	1	0	0	0	0	1	0	0	0	9961	1261	44	3	385	3	MTRR	5	7875377	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		7875377	173039883	23	9278											
MARCH6	10299	broad.mit.edu	37	chr5	10423856	10423857	+	Frame_Shift_Ins	INS	-	-	T																															aattccctaggactgggcacINSttggagtcctgcatgccaaa																										TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:10423856_10423857insT	ENST00000274140.5	+	23	2425_2426	c.2293_2294insT	c.(2293-2295)cttfs	p.L765fs	MARCH6_ENST00000510792.1_Frame_Shift_Ins_p.L463fs|MARCH6_ENST00000449913.2_Frame_Shift_Ins_p.L717fs|MARCH6_ENST00000503788.1_Frame_Shift_Ins_p.L660fs	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	765					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGACTGGGCACTTGGAGTCCTG	0.361																																						uc003jet.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2293-2295)cttfs		Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.																																				SO:0001589	frameshift_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10423856_10423857insT	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2295dupT	5.37:g.10423858_10423858dupT	ENSP00000274140:p.Leu765fs					MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs	p.L765fs	NM_005885	NP_005876	O60337	MARH6_HUMAN			22	2476_2477	+			765					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Frame_Shift_Ins	INS	ENST00000274140.5	37	c.2293_2294insT	CCDS34135.1																																																																																				0.361	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		T	10423857	-	T	10423856	7	5	135	1	0	1	1	0	0	0	0	0	9305	565	20	0	2383	0	MARCH6	5	10423856	Frame_Shift_Ins	INS	-	TCGA-14-0871-01A-01W-0424-08	2548479	10423856	170491404	24	9279											
RAB24	53917	broad.mit.edu	37	chr5	176729179	176729179	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagctgagctttgataTctgtaaagagaagtgactaa	16	10	10	5	0	1	5	0	3	1	2	1	6	1	5	0	0	2	3	0	0	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:176729179T>C	ENST00000303251.6	-	6	853	c.434A>G	c.(433-435)aAt>aGt	p.N145S	PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Splice_Site_p.N116S|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Splice_Site_p.N145S	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	145					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTTTGATATCTGTAAAGAG	0.502																																						uc003mfv.3																			0											c.e7-1		Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA.							56	58	58					5																	176729179		2203	4300	6503	SO:0001630	splice_region_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176729179T>C	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.434-1A>G	5.37:g.176729179T>C						RAB24_uc003mfw.3_Splice_Site_p.N145_splice|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank	p.N145_splice	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	803	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	145					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.434_splice	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399995	0.42613	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.75477	-0.94;-0.94;-0.94	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.268464	0.34603	N	0.003839	T	0.50309	0.1608	N	0.02697	-0.525	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.48210	-0.9055	10	0.30078	T	0.28	.	12.933	0.58296	0.0:0.0:0.0:1.0	.	145;116	Q969Q5;F8W8H5	RAB24_HUMAN;.	S	145;145;116	ENSP00000377235:N145S;ENSP00000304376:N145S;ENSP00000302085:N116S	ENSP00000304376:N145S	N	-	2	0	RAB24	176661785	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.583000	0.74053	1.994000	0.58287	0.459000	0.35465	AAT		0.502	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	Missense_Mutation	C	176729179	T	C	176729179	5	2	135	1	0	0	0	0	0	0	1	0	12911	1449	50	4	189	4	RAB24	5	176729179	Splice_Site	SNP	T	TCGA-14-0871-01A-01W-0424-08	166305323	176729179	4186081	25	9280											
HUS1B	135458	broad.mit.edu	37	chr6	656375	656375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctccgtctctatactcagGgtcatcctgccactgaggtt	7	12	8	14	1	3	1	2	1	1	0	6	1	5	1	4	2	2	1	4	2	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:656375G>A	ENST00000380907.2	-	1	588	c.570C>T	c.(568-570)acC>acT	p.T190T	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	190					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CTATACTCAGGGTCATCCTGC	0.562																																						uc003mtg.3																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(568-570)acC>acT		Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.							88	97	94					6																	656375		2203	4300	6503	SO:0001819	synonymous_variant	135458							g.chr6:656375G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.570C>T	6.37:g.656375G>A						EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	p.T190T	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	0	590	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	190					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.570C>T	CCDS4470.1																																																																																				0.562	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		A	656375	G	A	656375	2	1	135	1	0	0	0	0	0	0	0	1	7460	1219	43	3		3	HUS1B	6	656375	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08		656375	170458692	26	9281											
TTBK1	84630	broad.mit.edu	37	chr6	43250498	43250498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccatttgaggtgaatGgcctcccacgagctgtgcct	6	9	11	15	2	0	2	0	2	0	0	1	3	1	2	5	2	2	1	5	2	1	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:43250498G>T	ENST00000259750.4	+	14	2103	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	674					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGGTGAATGGCCTCCCACG	0.612																																						uc003ouq.1																			0		p.G674G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2020-2022)Ggc>Tgc		Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.							90	98	96					6																	43250498		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250498G>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2020G>T	6.37:g.43250498G>T	ENSP00000259750:p.Gly674Cys					TTBK1_uc021yzs.1_5'UTR	p.G674C	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		13	2299	+			674					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2020G>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871076	0.51695	.	.	ENSG00000146216	ENST00000259750	T	0.61392	0.11	4.27	4.27	0.50696	.	0.502823	0.17589	N	0.168834	T	0.59945	0.2231	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64381	-0.6421	10	0.87932	D	0	.	9.3576	0.38175	0.1027:0.0:0.8973:0.0	.	674	Q5TCY1	TTBK1_HUMAN	C	674	ENSP00000259750:G674C	ENSP00000259750:G674C	G	+	1	0	TTBK1	43358476	1.000000	0.71417	0.848000	0.33437	0.970000	0.65996	4.621000	0.61233	1.918000	0.55548	0.555000	0.69702	GGC		0.612	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43250498	G	T	43250498	3	4	135	1	0	0	0	0	1	0	0	0	16673	1348	47	5	2070	5	TTBK1	6	43250498	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	42594123	43250498	127864569	27	9282											
SYNE1	23345	broad.mit.edu	37	chr6	152779932	152779932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcgattgtgcctcaCgctcaagaactgtgataatt	10	11	10	10	2	2	2	2	1	0	1	3	3	2	2	1	1	2	2	1	1	3	3	rs191723029	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:152779932C>G	ENST00000367255.5	-	22	3129	c.2528G>C	c.(2527-2529)cGt>cCt	p.R843P	SYNE1_ENST00000423061.1_Missense_Mutation_p.R850P|SYNE1_ENST00000367253.4_Missense_Mutation_p.R843P|SYNE1_ENST00000367248.3_Missense_Mutation_p.R833P|SYNE1_ENST00000495090.2_Missense_Mutation_p.R410P|SYNE1_ENST00000413186.2_Missense_Mutation_p.R843P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R850P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R850P|SYNE1_ENST00000265368.4_Missense_Mutation_p.R843P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	843					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGTGCCTCACGCTCAAGAAC	0.403										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2527-2529)cGt>cCt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							123	115	117					6																	152779932		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152779932C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2528G>C	6.37:g.152779932C>G	ENSP00000356224:p.Arg843Pro	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.R850P|SYNE1_uc003qou.4_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.3_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	p.R843P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	19	2751	-		Ovarian(120;0.0955)	843					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2528G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371239	0.24771	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.49139	1.35;1.35;1.35;1.35;0.79;1.35;1.35;1.35;1.35	5.34	-5.98	0.02220	.	0.833365	0.10450	N	0.673167	T	0.10121	0.0248	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.001;0.0;0.001;0.001;0.002;0.0;0.002	T	0.29058	-1.0024	10	0.27785	T	0.31	.	12.4994	0.55948	0.0:0.5636:0.115:0.3214	.	826;843;410;833;843;843;850	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	P	843;850;843;850;850;843;833;843;410	ENSP00000356224:R843P;ENSP00000396024:R850P;ENSP00000265368:R843P;ENSP00000390975:R850P;ENSP00000341887:R850P;ENSP00000356222:R843P;ENSP00000356217:R833P;ENSP00000414510:R843P;ENSP00000438508:R410P	ENSP00000265368:R843P	R	-	2	0	SYNE1	152821625	0.009000	0.17119	0.029000	0.17559	0.931000	0.56810	-0.003000	0.12901	-0.896000	0.03915	-0.300000	0.09419	CGT		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152779932	C	G	152779932	3	3	135	1	0	0	0	0	1	0	0	0	15442	536	19	5	24438	5	SYNE1	6	152779932	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	109529434	152779932	18335135	28	9283											
GIMAP2	26157	broad.mit.edu	37	chr7	150390248	150390248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtggctttgcatactgCacagcatgtgcaatttgttt	7	17	9	8	0	1	0	0	0	1	0	1	0	1	0	0	1	5	6	0	1	2	5			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150390248C>T	ENST00000223293.5	+	3	968	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	292						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCATACTGCACAGCATGTG	0.328																																						uc003who.3																			0				kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13						c.(874-876)Cac>Tac		Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.							118	109	112					7																	150390248		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150390248C>T	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.874C>T	7.37:g.150390248C>T	ENSP00000223293:p.His292Tyr						p.H292Y	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	962	+			292					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.874C>T	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.809161	0.00606	.	.	ENSG00000106560	ENST00000223293	T	0.05996	3.36	3.32	-6.63	0.01807	.	3.919420	0.00783	N	0.001294	T	0.02688	0.0081	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.02654	T	1	.	10.8793	0.46929	0.0:0.7016:0.0:0.2984	.	292	Q9UG22	GIMA2_HUMAN	Y	292	ENSP00000223293:H292Y	ENSP00000223293:H292Y	H	+	1	0	GIMAP2	150021181	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.890000	0.04140	-1.317000	0.02292	-1.105000	0.02106	CAC		0.328	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		T	150390248	C	T	150390248	3	4	135	1	0	0	0	0	1	0	0	0	6380	710	25	3	880	3	GIMAP2	7	150390248	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		150390248	8748415	29	9284											
GIMAP5	55340	broad.mit.edu	37	chr7	150440111	150440111	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctattgttgtgcagcatacTttttttcattatttttctgt	6	24	5	6	0	3	0	1	0	2	0	3	0	3	0	0	0	3	3	0	0	3	10			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150440111T>A	ENST00000358647.3	+	3	1251	c.884T>A	c.(883-885)cTt>cAt	p.L295H	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	295					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGCATACTTTTTTTCATT	0.368																																						uc022apw.1																			0											c.(1495-1497)cTt>cAt		Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.							48	43	45					7																	150440111		2202	4299	6501	SO:0001583	missense	55340							g.chr7:150440111T>A	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.884T>A	7.37:g.150440111T>A	ENSP00000351473:p.Leu295His					GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.L295H	p.L499H	NM_001199577	NP_001186506					5	1636	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.1496T>A	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329848	0.24167	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.06849	3.25	3.72	-0.0938	0.13647	.	2.059020	0.02069	N	0.051394	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	B	0.37550	0.253	T	0.36432	-0.9748	10	0.87932	D	0	.	6.0289	0.19669	0.0:0.4055:0.0:0.5945	.	295	Q96F15	GIMA5_HUMAN	H	295;331	ENSP00000351473:L295H	ENSP00000351473:L295H	L	+	2	0	GIMAP5	150071044	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.599000	0.24089	0.108000	0.17862	0.377000	0.23210	CTT		0.368	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		A	150440111	T	A	150440111	3	1	135	1	0	0	0	0	1	0	0	0	6382	1609	56	5	890	5	GIMAP5	7	150440111	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	49863	150440111	8698552	30	9285											
XKR5	389610	broad.mit.edu	37	chr8	6681094	6681094	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagaacagaaccagacTcagcacgcgggttcccaaca	13	7	9	12	2	1	3	1	0	0	3	2	3	2	3	2	1	4	3	2	1	4	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:6681094T>A	ENST00000518724.1	-	0	736							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAACCAGACTCAGCACGCGG	0.542																																						uc022aqv.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(586-588)Agt>Tgt		Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.							40	46	44					8																	6681094		2017	4172	6189			389610					integral to membrane		g.chr8:6681094T>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6681094T>A						XKR5_uc003wqq.3_Missense_Mutation_p.S33C	p.S196C	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	3	737	-			196					Q5GH74	Missense_Mutation	SNP	ENST00000518724.1	37	c.586A>T																																																																																					0.542	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		A	6681094	T	A	6681094	1	1	135	0	1	0	0	0	0	0	0	0	17431	1551	54	5		5	XKR5	8	6681094	RNA	SNP	T	TCGA-14-0871-01A-01W-0424-08		6681094	139682928	31	9286											
PTPRD	5789	broad.mit.edu	37	chr9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaagtccccaaatgtttCggggagagatccctgtgttg	10	10	11	10	1	0	1	0	0	0	1	3	3	2	2	4	2	0	2	4	2	3	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:8389318C>T	ENST00000381196.4	-	34	4843	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_ENST00000397617.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1434K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1421K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1434K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1024K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1024K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1412K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1028K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1027K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)																												uc003zkk.3																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4300-4302)Gaa>Aaa		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							178	170	173					9																	8389318		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389318C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4300G>A	9.37:g.8389318C>T	ENSP00000370593:p.Glu1434Lys	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1018K|PTPRD_uc003zks.3_Missense_Mutation_p.E1027K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1024K	p.E1434K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	36	5043	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1434			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4300G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629974	0.96671	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0;0.996;1.0;1.0;1.0	P;P;P;P;D;P;D;D;D	0.85130	0.629;0.629;0.629;0.629;0.976;0.496;0.986;0.997;0.978	T	0.43376	-0.9395	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1027;1018;1027;1028;1024;1024;1421;1434;1434	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1434;1434;1421;1412;1028;1027;1024;1024;905;1434;1027;1027	ENSP00000370593:E1434K;ENSP00000348812:E1434K;ENSP00000353187:E1421K;ENSP00000351293:E1412K;ENSP00000347373:E1028K;ENSP00000380741:E1027K;ENSP00000380735:E1024K;ENSP00000440515:E1024K;ENSP00000438164:E1434K;ENSP00000417093:E1027K;ENSP00000380731:E1027K	.	E	-	1	0	PTPRD	8379318	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	GAA		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8389318	C	T	8389318	3	4	135	1	0	0	0	0	1	0	0	0	12799	893	31	2	1478	2	PTPRD	9	8389318	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		8389318	132824113	32	9287											
SLC28A3	64078	broad.mit.edu	37	chr9	86924627	86924627	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtgacctgttcttcAtcctggaaatcaaacattgg	11	13	7	10	0	4	1	3	1	1	0	5	2	5	2	2	2	2	1	2	2	3	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:86924627A>T	ENST00000376238.4	-	3	208	c.159T>A	c.(157-159)gaT>gaA	p.D53E	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	53					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CCTGTTCTTCATCCTGGAAAT	0.428																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.3																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(157-159)gaT>gaA		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.							237	195	209					9																	86924627		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86924627A>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.159T>A	9.37:g.86924627A>T	ENSP00000365413:p.Asp53Glu					SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.3_5'UTR	p.D53E	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN			2	305	-			53					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.159T>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	2.664	-0.279038	0.05642	.	.	ENSG00000197506	ENST00000376238	T	0.01516	4.81	5.18	-10.4	0.00318	.	0.914555	0.09227	N	0.831143	T	0.00967	0.0032	L	0.31294	0.92	0.37836	D	0.928905	B	0.02656	0.0	B	0.01281	0.0	T	0.56251	-0.8010	10	0.02654	T	1	2.7368	4.312	0.10976	0.0888:0.1741:0.3697:0.3674	.	53	Q9HAS3	S28A3_HUMAN	E	53	ENSP00000365413:D53E	ENSP00000365413:D53E	D	-	3	2	SLC28A3	86114447	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.074000	0.00300	-4.706000	0.00035	-0.411000	0.06167	GAT		0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		T	86924627	A	T	86924627	3	4	135	1	0	0	0	0	1	0	0	0	14533	214	8	5	1980	5	SLC28A3	9	86924627	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	78535309	86924627	54288804	33	9288											
KIAA1958	158405	broad.mit.edu	37	chr9	115336719	115336719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccggaccagagactcttGtgacttctcctactgtagtg	9	12	9	11	1	2	2	0	1	2	1	3	4	2	3	3	1	2	1	3	1	3	5			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:115336719G>T	ENST00000337530.6	+	2	655	c.359G>T	c.(358-360)tGt>tTt	p.C120F	KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAGACTCTTGTGACTTCTCC	0.473																																						uc011lwx.1																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(358-360)tGt>tTt		Homo sapiens KIAA1958 (KIAA1958), mRNA.							159	153	155					9																	115336719		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336719G>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.359G>T	9.37:g.115336719G>T	ENSP00000336940:p.Cys120Phe					KIAA1958_uc004bgf.1_Missense_Mutation_p.C120F	p.C120F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			1	534	+			120					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.359G>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581743	0.65992	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.986	T	0.68633	-0.5357	9	0.62326	D	0.03	-25.8562	20.6439	0.99570	0.0:0.0:1.0:0.0	.	120;120	B7ZKW6;Q8N8K9	.;K1958_HUMAN	F	120	.	ENSP00000336940:C120F	C	+	2	0	KIAA1958	114376540	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.193000	0.89719	2.884000	0.98904	0.655000	0.94253	TGT		0.473	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		T	115336719	G	T	115336719	3	4	135	1	0	0	0	0	1	0	0	0	8264	1377	48	5	361	5	KIAA1958	9	115336719	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	28412092	115336719	25876712	34	9289											
OR5AR1	219493	broad.mit.edu	37	chr11	56431364	56431364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctctgcaacctctcctTtgttgacctgggctactcct	4	16	6	15	0	2	1	0	1	2	0	5	1	4	1	5	1	3	3	5	1	2	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:56431364T>G	ENST00000302969.2	+	1	227	c.203T>G	c.(202-204)tTt>tGt	p.F68C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AACCTCTCCTTTGTTGACCTG	0.463																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(202-204)tTt>tGt		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							244	245	245					11																	56431364		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431364T>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.203T>G	11.37:g.56431364T>G	ENSP00000302639:p.Phe68Cys					OR8U8_uc001nit.2_Intron	p.F68C	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	203	+			68					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.203T>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356764	0.41801	.	.	ENSG00000172459	ENST00000302969	T	0.01005	5.45	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.139361	0.33553	N	0.004792	T	0.02230	0.0069	M	0.78916	2.43	0.09310	N	0.999991	P	0.51791	0.948	B	0.42422	0.387	T	0.38351	-0.9665	10	0.62326	D	0.03	.	14.323	0.66499	0.0:0.0:0.0:1.0	.	68	Q8NGP9	O5AR1_HUMAN	C	68	ENSP00000302639:F68C	ENSP00000302639:F68C	F	+	2	0	OR5AR1	56187940	0.848000	0.29623	0.996000	0.52242	0.928000	0.56348	5.626000	0.67777	2.173000	0.68751	0.467000	0.42956	TTT		0.463	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		G	56431364	T	G	56431364	3	3	135	1	0	0	0	0	1	0	0	0	11145	1841	64	5	205	5	OR5AR1	11	56431364	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		56431364	78575152	35	9290											
OSBP	5007	broad.mit.edu	37	chr11	59376014	59376014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgttcgttgacctgtttGatcttttcattgctctcagc	4	18	8	11	2	3	2	2	2	2	0	6	2	3	2	1	0	2	5	1	0	0	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:59376014G>A	ENST00000263847.1	-	3	1244	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	255					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACCTGTTTGATCTTTTCAT	0.478																																						uc001noc.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(763-765)atC>atT		Homo sapiens oxysterol binding protein (OSBP), mRNA.							188	164	172					11																	59376014		2201	4295	6496	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376014G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.765C>T	11.37:g.59376014G>A							p.I255I	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	2	1245	-		all_epithelial(135;0.000236)	255					Q6P524	Silent	SNP	ENST00000263847.1	37	c.765C>T	CCDS7974.1																																																																																				0.478	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			A	59376014	G	A	59376014	2	1	135	1	0	0	0	0	0	0	0	1	11273	1280	45	3		3	OSBP	11	59376014	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	2944650	59376014	75630502	36	9291											
CTSF	8722	broad.mit.edu	37	chr11	66333870	66333870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacggacaggcgccaccGggcttctgaggaccaaggag	12	3	15	11	3	1	2	0	1	1	1	1	5	1	5	3	5	0	1	3	5	2	1	rs568250930	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:66333870G>C	ENST00000310325.5	-	5	722	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	205					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGCCACCGGGCTTCTGAG	0.587																																						uc001oip.3																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(613-615)Cgg>Ggg		Homo sapiens cathepsin F (CTSF), mRNA.							40	38	39					11																	66333870		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333870G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.613C>G	11.37:g.66333870G>C	ENSP00000310832:p.Arg205Gly						p.R205G	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			4	703	-			205					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.613C>G	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.478735|2.478735	0.44044|0.44044	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325;ENST00000526010	.|D;T	.|0.85861	.|-2.04;0.76	5.67|5.67	-1.36|-1.36	0.09085|0.09085	.|Proteinase inhibitor I29, cathepsin propeptide (2);	.|0.866206	.|0.10174	.|N	.|0.706785	T|T	0.73860|0.73860	0.3641|0.3641	N|N	0.20357|0.20357	0.565|0.565	0.20563|0.20563	N|N	0.99989|0.99989	.|B	.|0.17667	.|0.023	.|B	.|0.27500	.|0.08	T|T	0.57400|0.57400	-0.7818|-0.7818	5|10	.|0.27082	.|T	.|0.32	.|.	10.1422|10.1422	0.42742|0.42742	0.0:0.4121:0.2165:0.3714|0.0:0.4121:0.2165:0.3714	.|.	.|205	.|Q9UBX1	.|CATF_HUMAN	R|G	52|205;113	.|ENSP00000310832:R205G;ENSP00000435822:R113G	.|ENSP00000310832:R205G	P|R	-|-	2|1	0|2	CTSF|CTSF	66090446|66090446	0.275000|0.275000	0.24201|0.24201	0.870000|0.870000	0.34147|0.34147	0.821000|0.821000	0.46438|0.46438	-0.003000|-0.003000	0.12901|0.12901	-0.551000|-0.551000	0.06175|0.06175	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.587	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		C	66333870	G	C	66333870	3	2	135	1	0	0	0	0	1	0	0	0	4034	1115	39	5	877	5	CTSF	11	66333870	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	6957856	66333870	68672646	37	9292											
WNT11	7481	broad.mit.edu	37	chr11	75907584	75907584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggaggagcagttccagcGcatgtcggcaaaggcccggc	10	5	15	11	3	0	0	0	0	0	0	2	2	1	2	2	5	2	4	2	5	2	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:75907584G>A	ENST00000322563.3	-	2	386	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	88					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGTTCCAGCGCATGTCGGCA	0.632																																						uc001oxe.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(262-264)Cgc>Tgc		Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.							81	89	86					11																	75907584		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907584G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.262C>T	11.37:g.75907584G>A	ENSP00000325526:p.Arg88Cys					WNT11_uc001oxf.1_Missense_Mutation_p.R88C	p.R88C	NM_004626	NP_004617	O96014	WNT11_HUMAN			1	385	-			88					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.262C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679530	0.88542	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.81163	-1.46	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95126	0.8251	10	0.87932	D	0	.	14.052	0.64742	0.0:0.0:0.8489:0.1511	.	88	O96014	WNT11_HUMAN	C	88	ENSP00000325526:R88C	ENSP00000325526:R88C	R	-	1	0	WNT11	75585232	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.394000	0.52551	2.334000	0.79466	0.655000	0.94253	CGC		0.632	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		A	75907584	G	A	75907584	3	1	135	1	0	0	0	0	1	0	0	0	17381	1087	38	1	818	1	WNT11	11	75907584	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	9573714	75907584	59098932	38	9293											
SLC2A14	144195	broad.mit.edu	37	chr12	7970576	7970576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccaatttcaaaacaggCcacaaagaccaagatagccc	16	6	7	12	0	1	2	1	0	0	2	2	2	2	2	4	2	2	0	4	2	6	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:7970576C>A	ENST00000543909.1	-	15	1954	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	SLC2A14_ENST00000535295.1_Missense_Mutation_p.A290S|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A414S|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A399S|SLC2A14_ENST00000542505.1_Missense_Mutation_p.A40S|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A376S|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A376S|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A290S			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	399					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCAAAACAGGCCACAAAGACC	0.498																																						uc010sgh.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1240-1242)Gcc>Tcc		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.							42	44	43					12																	7970576		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7970576C>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1195G>T	12.37:g.7970576C>A	ENSP00000440480:p.Ala399Ser					SLC2A14_uc001qtk.3_Missense_Mutation_p.A399S|SLC2A14_uc001qtl.3_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.3_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.2_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.3_Missense_Mutation_p.A399S|SLC2A14_uc001qto.3_Missense_Mutation_p.A34S	p.A414S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	8	1261	-			399					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1240G>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843058	0.32606	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	3.31	3.31	0.37934	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	M	0.83312	2.635	0.49915	D	0.99983	P;P;P;P	0.41498	0.752;0.752;0.532;0.587	P;B;B;B	0.44647	0.456;0.401;0.155;0.349	T	0.80417	-0.1391	10	0.21014	T	0.42	.	12.4172	0.55500	0.0:1.0:0.0:0.0	.	414;290;376;399	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	S	376;399;376;40;399;290;290;414	ENSP00000340450:A376S;ENSP00000440480:A399S;ENSP00000407287:A376S;ENSP00000438484:A40S;ENSP00000379834:A399S;ENSP00000440492:A290S;ENSP00000443903:A290S;ENSP00000445929:A414S	ENSP00000340450:A376S	A	-	1	0	SLC2A14	7861843	1.000000	0.71417	0.993000	0.49108	0.250000	0.25880	6.898000	0.75676	1.546000	0.49388	0.195000	0.17529	GCC		0.498	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		A	7970576	C	A	7970576	3	1	135	1	0	0	0	0	1	0	0	0	14543	739	26	5	375	5	SLC2A14	12	7970576	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		7970576	125881319	39	9294											
WIF1	11197	broad.mit.edu	37	chr12	65460443	65460443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacagttcactccataGaatccaggtgggcagatgca	11	10	10	10	0	2	2	2	0	0	2	4	2	4	2	2	2	1	3	2	2	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:65460443G>T	ENST00000286574.4	-	6	1082	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	236	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCACTCCATAGAATCCAGGTG	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.3				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0		p.G235E(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(706-708)ttC>ttA		Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.							78	77	78					12																	65460443		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65460443G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.708C>A	12.37:g.65460443G>T	ENSP00000286574:p.Phe236Leu						p.F236L	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	1083	-			236			EGF-like 2.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.708C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993322	0.54041	.	.	ENSG00000156076	ENST00000286574	T	0.56444	0.46	4.99	4.99	0.66335	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.065347	0.64402	D	0.000004	T	0.52948	0.1766	M	0.81802	2.56	0.47862	D	0.999537	B	0.27559	0.181	B	0.28011	0.085	T	0.52457	-0.8573	9	.	.	.	.	9.8936	0.41304	0.1544:0.0:0.8456:0.0	.	236	Q9Y5W5	WIF1_HUMAN	L	236	ENSP00000286574:F236L	.	F	-	3	2	WIF1	63746710	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.192000	0.50989	2.709000	0.92574	0.655000	0.94253	TTC		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			T	65460443	G	T	65460443	3	4	135	1	0	0	0	0	1	0	0	0	17363	933	33	5	451	5	WIF1	12	65460443	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	57489867	65460443	68391452	40	9295											
TRHDE	29953	broad.mit.edu	37	chr12	72666917	72666917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccagtccggggaccaCgtcggcccagccgccgtcgg	4	4	17	16	6	0	0	0	0	0	0	3	1	1	1	6	6	1	0	6	6	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:72666917C>T	ENST00000261180.4	+	1	455	c.359C>T	c.(358-360)aCg>aTg	p.T120M	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	120					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGGGGACCACGTCGGCCCAG	0.741																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(358-360)aCg>aTg		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							8	10	10					12																	72666917		2123	4129	6252	SO:0001583	missense	283392				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72666917C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.359C>T	12.37:g.72666917C>T	ENSP00000261180:p.Thr120Met					LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	p.T120M	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			0	389	+			120					A5PL19|Q6UWJ4	Translation_Start_Site	SNP	ENST00000261180.4	37	c.359C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104697	0.20632	.	.	ENSG00000072657	ENST00000261180	T	0.01369	4.97	4.97	4.02	0.46733	.	0.527792	0.15991	N	0.234808	T	0.01061	0.0035	N	0.08118	0	0.19775	N	0.999954	B	0.19935	0.04	B	0.06405	0.002	T	0.49495	-0.8934	10	0.48119	T	0.1	.	10.4776	0.44674	0.0:0.8027:0.1973:0.0	.	120	Q9UKU6	TRHDE_HUMAN	M	120	ENSP00000261180:T120M	ENSP00000261180:T120M	T	+	2	0	TRHDE	70953184	0.890000	0.30428	0.955000	0.39395	0.317000	0.28152	1.859000	0.39418	2.274000	0.75844	0.514000	0.50259	ACG		0.741	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		T	72666917	C	T	72666917	3	4	135	1	0	0	0	0	1	0	0	0	16476	536	19	1	361	1	TRHDE	12	72666917	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	7206474	72666917	61184978	41	9296											
SCARB1	949	broad.mit.edu	37	chr12	125296422	125296422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcgcccctcaccttgctCagcccgttccacttgtccac	4	11	5	21	2	3	0	2	0	1	0	6	0	5	0	6	0	2	2	6	0	0	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:125296422C>T	ENST00000415380.2	-	5	845	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCARB1_ENST00000546215.1_Silent_p.L240L|SCARB1_ENST00000541205.1_Silent_p.L199L|SCARB1_ENST00000544327.1_Silent_p.L186L|SCARB1_ENST00000339570.5_Silent_p.L240L|SCARB1_ENST00000540495.1_Silent_p.L203L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.L240L|SCARB1_ENST00000376788.1_Silent_p.L140L			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	240					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCTTGCTCAGCCCGTTCC	0.652																																						uc001ugp.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(718-720)ctG>ctA		Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						86	61	69					12																	125296422		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125296422C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.720G>A	12.37:g.125296422C>T						SCARB1_uc001ugm.4_Silent_p.L240L|SCARB1_uc001ugn.4_Silent_p.L240L|SCARB1_uc010tbd.2_Silent_p.L240L|SCARB1_uc001ugo.4_Silent_p.L240L	p.L240L	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	4	973	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		240					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.720G>A																																																																																					0.652	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		T	125296422	C	T	125296422	2	4	135	1	0	0	0	0	0	0	0	1	13881	813	29	3		3	SCARB1	12	125296422	Silent	SNP	C	TCGA-14-0871-01A-01W-0424-08	52629505	125296422	8555473	42	9297											
TMEM132B	114795	broad.mit.edu	37	chr12	126138507	126138507	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggagagagcagtccagGaatggttccaccgtggcaca	12	5	13	11	1	0	1	0	0	0	1	2	4	2	3	4	4	1	3	4	4	1	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:126138507G>T	ENST00000299308.3	+	9	2496	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.E342*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	830						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGTCCAGGAATGGTTCCA	0.488																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2488-2490)Gaa>Taa		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							66	68	67					12																	126138507		2004	4153	6157	SO:0001587	stop_gained	114795					integral to membrane		g.chr12:126138507G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2488G>T	12.37:g.126138507G>T	ENSP00000299308:p.Glu830*					TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	p.E830*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2496	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		830					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	ENST00000299308.3	37	c.2488G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316622	0.95682	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	.	.	.	5.54	4.65	0.58169	.	0.088565	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.5642	0.84574	0.0:0.1304:0.8696:0.0	.	.	.	.	X	830;342	.	ENSP00000299308:E830X	E	+	1	0	TMEM132B	124704460	1.000000	0.71417	0.993000	0.49108	0.590000	0.36582	4.511000	0.60462	1.334000	0.45468	0.655000	0.94253	GAA		0.488	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126138507	G	T	126138507	4	4	135	1	0	0	0	0	0	1	0	0	16043	1175	41	5	2522	5	TMEM132B	12	126138507	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	842085	126138507	7713388	43	9298											
GPC6	10082	broad.mit.edu	37	chr13	94680086	94680086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaacaactactgtctcaAcgtcatgaagggctgcttgg	10	10	10	11	1	2	1	2	1	1	0	3	1	2	1	0	2	6	3	0	2	5	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr13:94680086A>G	ENST00000377047.4	+	4	1430	c.815A>G	c.(814-816)aAc>aGc	p.N272S	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	272					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TACTGTCTCAACGTCATGAAG	0.527																																						uc001vlt.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(814-816)aAc>aGc		Homo sapiens glypican 6 (GPC6), mRNA.							162	147	152					13																	94680086		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94680086A>G	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.815A>G	13.37:g.94680086A>G	ENSP00000366246:p.Asn272Ser					GPC6_uc010tig.1_Missense_Mutation_p.N272S|5S_rRNA_uc021rli.1_5'Flank	p.N272S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			3	1447	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	272					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.815A>G	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401313	0.83120	.	.	ENSG00000183098	ENST00000377047	T	0.57595	0.39	5.92	5.92	0.95590	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93594	3.435	0.53005	D	0.999966	D;D	0.89917	0.994;1.0	D;D	0.91635	0.967;0.999	D	0.84998	0.0898	10	0.62326	D	0.03	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	272;272	B4E2M1;Q9Y625	.;GPC6_HUMAN	S	272	ENSP00000366246:N272S	ENSP00000366246:N272S	N	+	2	0	GPC6	93478087	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	9.303000	0.96183	2.266000	0.75297	0.533000	0.62120	AAC		0.527	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		G	94680086	A	G	94680086	3	3	135	1	0	0	0	0	1	0	0	0	6602	43	2	4	829	4	GPC6	13	94680086	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08		94680086	20489792	44	9299											
FANCM	57697	broad.mit.edu	37	chr14	45620712	45620712	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagatcagtttaggaaaaAcccatctccgaatattgtgg	15	10	9	7	1	2	1	1	0	1	1	3	4	2	2	2	2	1	1	2	2	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:45620712A>T	ENST00000267430.5	+	5	1116	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	FANCM_ENST00000542564.2_Missense_Mutation_p.N318I|FANCM_ENST00000556036.1_Missense_Mutation_p.N344I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	344					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAGGAAAAACCCATCTCCG	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1030-1032)aAc>aTc	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							63	65	64					14																	45620712		2202	4295	6497	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45620712A>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1031A>T	14.37:g.45620712A>T	ENSP00000267430:p.Asn344Ile					FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.3_Missense_Mutation_p.N318I	p.N344I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			4	1130	+			344					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1031A>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273442	0.59649	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.13901	2.6;2.55;2.55	5.41	5.41	0.78517	.	0.132156	0.64402	D	0.000002	T	0.32852	0.0843	M	0.82323	2.585	0.50467	D	0.999873	P;D;B	0.58268	0.865;0.982;0.108	B;P;B	0.52957	0.306;0.714;0.089	T	0.22417	-1.0217	10	0.66056	D	0.02	.	15.0946	0.72223	1.0:0.0:0.0:0.0	.	318;344;344	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	I	344;344;318	ENSP00000450596:N344I;ENSP00000267430:N344I;ENSP00000442493:N318I	ENSP00000267430:N344I	N	+	2	0	FANCM	44690462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.862000	0.87013	2.041000	0.60428	0.533000	0.62120	AAC		0.318	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45620712	A	T	45620712	3	4	135	1	0	0	0	0	1	0	0	0	5671	43	2	5	1049	5	FANCM	14	45620712	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08		45620712	61728828	45	9300											
ACTN1	87	broad.mit.edu	37	chr14	69349623	69349623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgatctcctgaggcgtGatggttgtgtaggggttggt	5	14	16	6	1	1	3	0	3	1	0	2	3	1	3	2	5	0	3	2	5	1	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:69349623G>A	ENST00000193403.6	-	15	2168	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ACTN1_ENST00000394419.4_Silent_p.I595I|ACTN1_ENST00000538545.2_Silent_p.I595I|ACTN1_ENST00000376839.3_Silent_p.I530I|ACTN1_ENST00000438964.2_Silent_p.I595I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	595	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTGAGGCGTGATGGTTGTGT	0.517																																						uc001xkl.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(1783-1785)atC>atT		Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.							203	161	175					14																	69349623		2203	4300	6503	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69349623G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1785C>T	14.37:g.69349623G>A						ACTN1_uc001xkk.3_Silent_p.I191I|ACTN1_uc010ttb.2_Silent_p.I530I|ACTN1_uc001xkm.3_Silent_p.I595I|ACTN1_uc001xkn.3_Silent_p.I595I|ACTN1_uc010ttc.2_Silent_p.I180I	p.I595I	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	14	2095	-			595			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.1785C>T	CCDS9792.1																																																																																				0.517	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		A	69349623	G	A	69349623	2	1	135	1	0	0	0	0	0	0	0	1	204	1280	45	3		3	ACTN1	14	69349623	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	23728911	69349623	37999917	46	9301											
DICER1	23405	broad.mit.edu	37	chr14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaccagcaagcgacTcaaaaatatcccccatggcc	15	5	7	14	1	1	0	1	0	0	0	2	1	2	0	4	2	2	2	4	2	5	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:95557629T>C	ENST00000526495.1	-	27	5729	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_ENST00000556045.1_Missense_Mutation_p.E711G|DICER1_ENST00000393063.1_Missense_Mutation_p.E1813G|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527414.1_Missense_Mutation_p.E1813G|DICER1_ENST00000343455.3_Missense_Mutation_p.E1813G|DICER1_ENST00000527416.2_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1813	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		E -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> K (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> Q (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.E1813G(1)|p.E1813A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		2	Substitution - Missense(2)	p.E1813G(2)|p.E1813A(2)	endometrium(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5437-5439)gAg>gGg		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							225	231	229					14																	95557629		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557629T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5438A>G	14.37:g.95557629T>C	ENSP00000437256:p.Glu1813Gly					DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	p.E1813G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5650	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1813			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5438A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916173	0.92249	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.6	5.6	0.85130	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98304	1.0520	10	0.87932	D	0	-26.0632	15.7947	0.78401	0.0:0.0:0.0:1.0	.	711;1813	B3KRG4;Q9UPY3	.;DICER_HUMAN	G	1813;1813;1813;1813;711	ENSP00000343745:E1813G;ENSP00000437256:E1813G;ENSP00000376783:E1813G;ENSP00000435681:E1813G;ENSP00000451041:E711G	ENSP00000343745:E1813G	E	-	2	0	DICER1	94627382	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.521000	0.81832	2.106000	0.64143	0.533000	0.62120	GAG		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			C	95557629	T	C	95557629	3	2	135	1	0	0	0	0	1	0	0	0	4521	1551	54	4	342	4	DICER1	14	95557629	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	26208006	95557629	11791911	47	9302											
NOX5	79400	broad.mit.edu	37	chr15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgaaggccattggccTgcagatggcccttgacctcc	8	9	11	13	0	0	4	0	3	0	1	1	4	1	4	5	3	1	1	5	3	1	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:69347743T>A	ENST00000388866.3	+	15	2110	c.2069T>A	c.(2068-2070)cTg>cAg	p.L690Q	NOX5_ENST00000455873.3_Missense_Mutation_p.L655Q|NOX5_ENST00000260364.5_Missense_Mutation_p.L672Q|NOX5_ENST00000448182.3_Missense_Mutation_p.L644Q|NOX5_ENST00000530406.2_Missense_Mutation_p.L662Q	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	690					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2068-2070)cTg>cAg		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							57	51	53					15																	69347743		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69347743T>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2069T>A	15.37:g.69347743T>A	ENSP00000373518:p.Leu690Gln					MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.L644Q|NOX5_uc002arp.2_Missense_Mutation_p.L672Q|NOX5_uc010bid.2_Missense_Mutation_p.L655Q|NOX5_uc010bie.2_Missense_Mutation_p.L490Q|NOX5_uc002arr.2_Missense_Mutation_p.L662Q|NOX5_uc010bif.2_Non-coding_Transcript	p.L690Q	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			14	2110	+			690					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2069T>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262095	0.59431	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94931	-3.56;-3.56;-3.56	3.54	3.54	0.40534	Ferric reductase, NAD binding (1);	0.000000	0.56097	D	0.000023	D	0.96824	0.8963	M	0.86028	2.79	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70016	0.958;0.967;0.944	D	0.96942	0.9688	10	0.87932	D	0	-8.8791	11.0823	0.48068	0.0:0.0:0.0:1.0	.	655;690;662	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	Q	655;672;690;662	ENSP00000416828:L655Q;ENSP00000373518:L690Q;ENSP00000432440:L662Q	ENSP00000373518:L690Q	L	+	2	0	NOX5	67134797	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	6.707000	0.74654	1.488000	0.48433	0.418000	0.28097	CTG		0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		A	69347743	T	A	69347743	3	1	135	1	0	0	0	0	1	0	0	0	10559	1580	55	5	2160	5	NOX5	15	69347743	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		69347743	33183649	48	9303											
UNC45A	55898	broad.mit.edu	37	chr15	91488293	91488293	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttgtgaaaactacatcaAgtaaggaagtctgtttcacc	14	12	7	8	0	3	1	2	1	1	0	3	2	3	2	1	1	2	2	1	1	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:91488293A>G	ENST00000418476.2	+	9	1239	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	UNC45A_ENST00000394275.2_Splice_Site_p.K385R	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	400					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AACTACATCAAGTAAGGAAGT	0.478																																						uc002bqg.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e9+1		Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.							64	63	64					15																	91488293		2198	4298	6496	SO:0001630	splice_region_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91488293A>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1199+1A>G	15.37:g.91488293A>G						UNC45A_uc002bqd.3_Splice_Site_p.K385_splice|UNC45A_uc010uqr.2_5'Flank	p.K400_splice	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		9	1539	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		400					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.1199_splice	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242520	0.39598	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.47177	0.85;0.85	5.71	-1.41	0.08941	.	0.442726	0.28901	N	0.013774	T	0.29389	0.0732	N	0.20357	0.565	0.32241	N	0.572653	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16335	-1.0406	10	0.27082	T	0.32	-11.7265	14.146	0.65351	0.3511:0.0:0.6489:0.0	.	400;385	Q9H3U1;A8K6F7	UN45A_HUMAN;.	R	385;400	ENSP00000377816:K385R;ENSP00000407487:K400R	ENSP00000377816:K385R	K	+	2	0	UNC45A	89289297	0.997000	0.39634	0.674000	0.29902	0.927000	0.56198	0.712000	0.25779	-0.498000	0.06632	0.529000	0.55759	AAG		0.478	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	Missense_Mutation	G	91488293	A	G	91488293	5	3	135	1	0	0	0	0	0	0	1	0	16985	86	3	4	1233	4	UNC45A	15	91488293	Splice_Site	SNP	A	TCGA-14-0871-01A-01W-0424-08	22140550	91488293	11043099	49	9304											
RUNDC2A	92017	broad.mit.edu	37	chr16	12145796	12145796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagaactctggggacGtgtttaaaaagacacctggg	13	8	13	7	1	1	3	0	1	1	2	1	4	1	4	1	3	2	2	1	3	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:12145796G>A	ENST00000566228.1	+	8	910	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	281						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCTGGGGACGTGTTTAAAAA	0.483																																						uc002dby.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7								Homo sapiens sorting nexin 29 (SNX29), mRNA.							75	84	81					16																	12145796		2197	4300	6497	SO:0001583	missense	84127				cell communication		phosphatidylinositol binding	g.chr16:12145796G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.841G>A	16.37:g.12145796G>A	ENSP00000456480:p.Val281Met					SNX29_uc002dbw.2_Missense_Mutation_p.V281M		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN			7		+								B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37		CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	5.070	0.198495	0.09652	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	1.78	0.24846	.	0.808524	0.11367	N	0.571249	T	0.33118	0.0852	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25676	-1.0125	6	0.27785	T	0.31	-10.7545	8.0147	0.30374	0.4679:0.0:0.5321:0.0	.	.	.	.	M	281	.	ENSP00000268271:V281M	V	+	1	0	RUNDC2A	12053297	0.000000	0.05858	0.011000	0.14972	0.100000	0.18952	0.192000	0.17096	0.563000	0.29222	-0.362000	0.07510	GTG		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			A	12145796	G	A	12145796	3	1	135	1	0	0	0	0	1	0	0	0	13743	1145	40	1	871	1	RUNDC2A	16	12145796	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		12145796	78208957	50	9305											
AKTIP	64400	broad.mit.edu	37	chr16	53528141	53528141	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactttacttttaaaaagctGaatatctttttcatacctgt	13	18	3	7	0	2	1	1	1	1	0	2	1	2	1	1	0	4	1	1	0	8	8			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:53528141G>A	ENST00000394657.7	-	8	793	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	AKTIP_ENST00000570004.1_Nonsense_Mutation_p.Q207*|AKTIP_ENST00000300245.4_Nonsense_Mutation_p.Q207*	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	207					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTAAAAAGCTGAATATCTTTT	0.308																																						uc002ehm.3																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(619-621)Cag>Tag		Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.							65	65	65					16																	53528141		2198	4300	6498	SO:0001587	stop_gained	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53528141G>A	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.619C>T	16.37:g.53528141G>A	ENSP00000378152:p.Gln207*					AKTIP_uc002ehk.3_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehl.3_Nonsense_Mutation_p.Q207*	p.Q207*	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN			7	801	-		all_cancers(37;0.14)	207					Q503B1|Q53H38	Nonsense_Mutation	SNP	ENST00000394657.7	37	c.619C>T	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	G	37	6.301269	0.97453	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	.	.	.	5.72	5.72	0.89469	.	0.146783	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.1904	20.2406	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000300245:Q207X	Q	-	1	0	AKTIP	52085642	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.721000	0.98766	2.857000	0.98124	0.650000	0.86243	CAG		0.308	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		A	53528141	G	A	53528141	4	1	135	1	0	0	0	0	0	1	0	0	482	1299	45	3	271	3	AKTIP	16	53528141	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	41382345	53528141	36826612	51	9306											
CDH16	1014	broad.mit.edu	37	chr16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtctcccctctcaatgGcaaaatccatgaggcggaag	10	9	10	12	1	2	1	1	1	2	0	5	2	3	2	3	3	0	1	3	3	4	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:66946227G>A	ENST00000299752.4	-	12	1659	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_ENST00000565796.1_Missense_Mutation_p.A489V|CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577																																						uc002eql.3																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1465-1467)gCc>gTc		Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.							98	92	94					16																	66946227		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946227G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1466C>T	16.37:g.66946227G>A	ENSP00000299752:p.Ala489Val					CDH16_uc010cdy.3_Missense_Mutation_p.A489V|CDH16_uc021tjx.1_Missense_Mutation_p.A489V|CDH16_uc002eqm.3_Missense_Mutation_p.A392V	p.A489V	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	11	1660	-		Ovarian(137;0.0563)	489			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1466C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430181	0.25726	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53857	0.6;0.6	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.506506	0.21528	N	0.073093	T	0.48607	0.1509	L	0.53249	1.67	0.38726	D	0.953552	P;P;P	0.46859	0.617;0.885;0.72	B;B;B	0.42625	0.178;0.393;0.342	T	0.50474	-0.8824	10	0.27785	T	0.31	-10.2196	12.9978	0.58657	0.0:0.0:1.0:0.0	.	489;489;489	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	489;489;453	ENSP00000377619:A489V;ENSP00000299752:A489V	ENSP00000299752:A489V	A	-	2	0	CDH16	65503728	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.617000	0.46385	2.457000	0.83068	0.462000	0.41574	GCC		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		A	66946227	G	A	66946227	3	1	135	1	0	0	0	0	1	0	0	0	3101	1203	42	3	1051	3	CDH16	16	66946227	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	13418086	66946227	23408526	52	9307											
WWP2	11060	broad.mit.edu	37	chr16	69973830	69973830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgaggagaccgagggctTtggacaggagtaaccgaggc	11	6	16	8	2	0	2	0	1	0	1	0	7	0	4	2	5	1	2	2	5	1	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:69973830T>C	ENST00000359154.2	+	24	2701	c.2600T>C	c.(2599-2601)tTt>tCt	p.F867S	WWP2_ENST00000356003.2_Missense_Mutation_p.F867S|WWP2_ENST00000448661.1_Missense_Mutation_p.F867S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.F428S|WWP2_ENST00000542271.1_Missense_Mutation_p.F751S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	867	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGAGGGCTTTGGACAGGAG	0.612																																						uc002exu.1																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2599-2601)tTt>tCt		Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.							80	61	67					16																	69973830		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69973830T>C	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2600T>C	16.37:g.69973830T>C	ENSP00000352069:p.Phe867Ser					WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	p.F867S	NM_007014	NP_008945	O00308	WWP2_HUMAN			24	2689	+			867			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.2600T>C	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105116	0.94245	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.4	5.4	0.78164	HECT (3);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97149	0.9830	9	.	.	.	.	15.432	0.75108	0.0:0.0:0.0:1.0	.	867	O00308	WWP2_HUMAN	S	867;867;867;754;751	ENSP00000352069:F867S;ENSP00000396871:F867S;ENSP00000348283:F867S;ENSP00000445616:F751S	.	F	+	2	0	WWP2	68531331	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.021000	0.88750	2.044000	0.60594	0.459000	0.35465	TTT		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		C	69973830	T	C	69973830	3	2	135	1	0	0	0	0	1	0	0	0	17413	1841	64	4	2694	4	WWP2	16	69973830	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	3027603	69973830	20380923	53	9308											
TP53	7157	broad.mit.edu	37	chr17	7577035	7577036	+	Frame_Shift_Ins	INS	-	-	G																															tacctcgcttagtgctccctINSgggggcagctcgtggtgagg																								rs72661120	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:7577035_7577036insG	ENST00000269305.4	-	8	1091_1092	c.902_903insC	c.(901-903)ccafs	p.P301fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P301fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P301fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P301fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P301fs|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	301	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G302fs*4(5)|p.?(3)|p.P301P(2)|p.P301fs*44(2)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.P301fs*5(1)|p.L265_K305del41(1)|p.P301Q(1)|p.G293fs*1(1)|p.P301L(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAGTGCTCCCTGGGGGCAGCTC	0.559		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		29	Whole gene deletion(8)|Insertion - Frameshift(6)|Deletion - In frame(4)|Deletion - Frameshift(4)|Unknown(3)|Substitution - Missense(2)|Substitution - coding silent(2)	p.P301fs*44(11)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301fs*5(4)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.P301Q(2)|p.P301L(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301T(1)|p.P301A(1)	bone(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|urinary_tract(2)|lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(901-903)ccafs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577035_7577036insG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.903dupC	17.37:g.7577040_7577040dupG	ENSP00000269305:p.Pro301fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.P301fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1096_1097	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	301		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.902_903insC	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577036	-	G	7577035	7	5	135	1	0	1	1	0	0	0	0	0	16378	1567	55	0	383	0	TP53	17	7577035	Frame_Shift_Ins	INS	-	TCGA-14-0871-01A-01W-0424-08		7577035	73618175	54	9309											
NF1	4763	broad.mit.edu	37	chr17	29557336	29557336	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataaaaacgaaactgtgtCaattagttgaagtaatgatg	19	11	8	3	1	1	2	1	2	0	0	1	3	1	2	0	0	2	2	0	0	9	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:29557336C>T	ENST00000358273.4	+	23	3432	c.3049C>T	c.(3049-3051)Caa>Taa	p.Q1017*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1017*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1017					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Q1017*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAACTGTGTCAATTAGTTGA	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.0?(8)|p.?(4)|p.Q1017*(2)|p.C1016fs*4(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM950846	NF1	M		c.(3049-3051)Caa>Taa		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							60	57	58					17																	29557336		2203	4299	6502	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29557336C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3049C>T	17.37:g.29557336C>T	ENSP00000351015:p.Gln1017*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.2_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50*	p.Q1017*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3432	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1017					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.3049C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	45	11.577041	0.99578	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.3015	0.94145	0.0:1.0:0.0:0.0	.	.	.	.	X	1017;1017;683	.	ENSP00000348498:Q1017X	Q	+	1	0	NF1	26581462	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.456000	0.80751	2.550000	0.86006	0.455000	0.32223	CAA		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29557336	C	T	29557336	4	4	135	1	0	0	0	0	0	1	0	0	10356	827	29	3	3200	3	NF1	17	29557336	Nonsense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	21980301	29557336	51637874	55	9310											
GAS2L2	246176	broad.mit.edu	37	chr17	34072639	34072639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagggatgaccccagacCttgtgccctgcggacaggca	8	6	14	13	2	0	2	0	1	0	1	0	5	0	4	4	3	3	1	4	3	0	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:34072639C>G	ENST00000254466.6	-	6	1904	c.1877G>C	c.(1876-1878)aGg>aCg	p.R626T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R610T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	626					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACCCCAGACCTTGTGCCCTG	0.582																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1876-1878)aGg>aCg		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							110	114	113					17																	34072639		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072639C>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1877G>C	17.37:g.34072639C>G	ENSP00000254466:p.Arg626Thr						p.R626T	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1905	-		Ovarian(249;0.17)	626					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1877G>C	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	0.557	-0.846830	0.02671	.	.	ENSG00000132139	ENST00000254466	T	0.18338	2.22	4.24	-0.0424	0.13863	.	0.772779	0.11430	N	0.564862	T	0.08537	0.0212	N	0.19112	0.55	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.33929	-0.9849	10	0.34782	T	0.22	-0.6762	1.9741	0.03412	0.1418:0.4749:0.1381:0.2452	.	626	Q8NHY3	GA2L2_HUMAN	T	626	ENSP00000254466:R626T	ENSP00000254466:R626T	R	-	2	0	GAS2L2	31096752	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.188000	0.17018	0.061000	0.16311	-0.229000	0.12294	AGG		0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		G	34072639	C	G	34072639	3	3	135	1	0	0	0	0	1	0	0	0	6247	681	24	5	769	5	GAS2L2	17	34072639	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	4515303	34072639	47122571	56	9311											
TUBG2	27175	broad.mit.edu	37	chr17	40817702	40817702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgtccccaggtgtccAccatcatgtcggccagcacc	7	7	9	18	2	1	0	1	0	0	0	4	0	3	0	7	2	1	1	7	2	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40817702A>G	ENST00000251412.7	+	8	899	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	234					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGGTGTCCACCATCATGTC	0.637																																						uc010wgr.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(700-702)Acc>Gcc		Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.							158	122	134					17																	40817702		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40817702A>G	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.700A>G	17.37:g.40817702A>G	ENSP00000251412:p.Thr234Ala					TUBG2_uc002iap.3_Missense_Mutation_p.T81A	p.T234A	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	7	956	+		Breast(137;0.00116)	234					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.700A>G	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440721	0.63067	.	.	ENSG00000037042	ENST00000251412	T	0.67698	-0.28	4.43	4.43	0.53597	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	L	0.48877	1.53	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.61845	-0.6979	10	0.87932	D	0	-53.7428	13.2072	0.59805	1.0:0.0:0.0:0.0	.	234	Q9NRH3	TBG2_HUMAN	A	234	ENSP00000251412:T234A	ENSP00000251412:T234A	T	+	1	0	TUBG2	38071228	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.968000	0.93407	1.783000	0.52377	0.459000	0.35465	ACC		0.637	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		G	40817702	A	G	40817702	3	3	135	1	0	0	0	0	1	0	0	0	16762	159	6	4	730	4	TUBG2	17	40817702	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	6745063	40817702	40377508	57	9312											
WNK4	65266	broad.mit.edu	37	chr17	40939868	40939868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctgcccttcagccccCtgggggggtgccatccagcc	5	6	12	18	0	1	1	1	0	0	1	2	1	2	1	7	3	4	0	7	3	0	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40939868C>A	ENST00000246914.5	+	8	1835	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	605					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAGCCCCCTGGGGGGGTG	0.632																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.3																			0		p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1813-1815)cCt>cAt		Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.							36	40	38					17																	40939868		2160	4216	6376	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939868C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1814C>A	17.37:g.40939868C>A	ENSP00000246914:p.Pro605His					WNK4_uc010wgx.2_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron	p.P605H	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1882	+		Breast(137;0.000143)	605					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1814C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500285	0.26861	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73152	-0.72	5.11	1.9	0.25705	.	0.147997	0.31660	N	0.007267	T	0.54046	0.1834	L	0.36672	1.1	0.25732	N	0.985258	B;B;B	0.14805	0.011;0.006;0.002	B;B;B	0.12156	0.007;0.002;0.002	T	0.44128	-0.9348	10	0.45353	T	0.12	-6.1157	4.5829	0.12267	0.1733:0.6384:0.0:0.1884	.	605;605;605	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	H	605;377	ENSP00000246914:P605H	ENSP00000246914:P605H	P	+	2	0	WNK4	38193394	0.034000	0.19679	0.624000	0.29186	0.176000	0.22953	1.611000	0.36879	0.561000	0.29186	-0.266000	0.10368	CCT		0.632	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			A	40939868	C	A	40939868	3	1	135	1	0	0	0	0	1	0	0	0	17377	681	24	5	1844	5	WNK4	17	40939868	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	122166	40939868	40255342	58	9313											
C18orf34	374864	broad.mit.edu	37	chr18	30873224	30873224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattagtattaacatttaTcactgatgaagagtaatgat	17	15	6	3	0	1	4	1	3	0	1	1	4	1	4	0	0	1	2	0	0	8	7			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr18:30873224T>A	ENST00000383096.3	-	12	1257	c.1075A>T	c.(1075-1077)Ata>Tta	p.I359L	CCDC178_ENST00000403303.1_Missense_Mutation_p.I359L|CCDC178_ENST00000583930.1_Missense_Mutation_p.I359L|CCDC178_ENST00000402325.1_Missense_Mutation_p.I359L|CCDC178_ENST00000406524.2_Missense_Mutation_p.I359L|CCDC178_ENST00000300227.8_Missense_Mutation_p.I359L|CCDC178_ENST00000579947.1_Missense_Mutation_p.I359L|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	359																	TTAACATTTATCACTGATGAA	0.279																																						uc010xbr.1																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						c.(1075-1077)Ata>Tta		Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.							96	91	93					18																	30873224		2199	4288	6487	SO:0001583	missense	374864							g.chr18:30873224T>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1075A>T	18.37:g.30873224T>A	ENSP00000372576:p.Ile359Leu					C18orf34_uc002kxn.2_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.3_Missense_Mutation_p.I359L	p.I359L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			10	1217	-			359					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1075A>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	5.940	0.357369	0.11239	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	3.59	-7.17	0.01511	.	.	.	.	.	T	0.08582	0.0213	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.28801	0.223;0.012;0.012;0.012	B;B;B;B	0.26770	0.073;0.012;0.012;0.012	T	0.16867	-1.0388	9	0.30854	T	0.27	4.8296	8.2791	0.31889	0.0:0.2961:0.4511:0.2528	.	359;359;359;359	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	L	359	ENSP00000385591:I359L;ENSP00000372576:I359L;ENSP00000300227:I359L;ENSP00000385867:I359L;ENSP00000385234:I359L	ENSP00000300227:I359L	I	-	1	0	C18orf34	29127222	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.658000	0.00401	-2.288000	0.00668	-0.619000	0.04042	ATA		0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30873224	T	A	30873224	3	1	135	1	0	0	0	0	1	0	0	0	1902	1435	50	5	1576	5	C18orf34	18	30873224	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		30873224	47204024	59	9314											
C19orf2	8725	broad.mit.edu	37	chr19	30476136	30476136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcaacaggaagaaGgtagataatgactataatgc	15	12	9	5	0	2	3	1	1	1	2	2	4	2	4	0	2	2	1	0	2	7	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:30476136G>A	ENST00000542441.2	+	3	456	c.159G>A	c.(157-159)aaG>aaA	p.K53K	URI1_ENST00000360605.4_Silent_p.K35K|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Silent_p.K13K			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	53					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ACAGGAAGAAGGTAGATAATG	0.249																																						uc002nsr.3																			0											c.(157-159)aaG>aaA		Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.							191	193	192					19																	30476136		2203	4300	6503	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30476136G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.159G>A	19.37:g.30476136G>A						URI1_uc002nsq.3_Silent_p.K35K|URI1_uc002nss.3_Silent_p.K13K|URI1_uc002nst.3_5'UTR	p.K53K	NM_003796	NP_003787	O94763	RMP_HUMAN			2	468	+			53					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.159G>A	CCDS12420.1																																																																																				0.249	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		A	30476136	G	A	30476136	2	1	135	1	0	0	0	0	0	0	0	1	1911	991	35	3		3	C19orf2	19	30476136	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08		30476136	28652847	60	9315											
WDR88	126248	broad.mit.edu	37	chr19	33651345	33651345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcatttctggagggttTgataggactgtggctatttg	6	18	12	5	0	2	1	1	1	2	0	3	3	2	3	0	4	0	2	0	4	2	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33651345T>A	ENST00000355868.3	+	8	1099	c.1023T>A	c.(1021-1023)ttT>ttA	p.F341L	WDR88_ENST00000361680.2_Missense_Mutation_p.F341L	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	341										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CTGGAGGGTTTGATAGGACTG	0.493																																						uc002nui.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1021-1023)ttT>ttA		Homo sapiens WD repeat domain 88 (WDR88), mRNA.							210	192	198					19																	33651345		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33651345T>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1023T>A	19.37:g.33651345T>A	ENSP00000348129:p.Phe341Leu						p.F341L	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			7	1101	+	Esophageal squamous(110;0.137)		341					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.1023T>A	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.916857	0.33815	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.59502	0.26;0.26	5.5	-10.5	0.00291	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	2.573600	0.01021	N	0.003994	T	0.42607	0.1210	L	0.35414	1.06	0.09310	N	1	P	0.44090	0.826	B	0.41946	0.371	T	0.42632	-0.9440	10	0.11794	T	0.64	.	13.2491	0.60041	0.0:0.0906:0.1752:0.7342	.	341	Q6ZMY6	WDR88_HUMAN	L	341	ENSP00000348129:F341L;ENSP00000355148:F341L	ENSP00000348129:F341L	F	+	3	2	WDR88	38343185	0.981000	0.34729	0.006000	0.13384	0.320000	0.28249	0.064000	0.14437	-1.830000	0.01199	-0.248000	0.11899	TTT		0.493	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		A	33651345	T	A	33651345	3	1	135	1	0	0	0	0	1	0	0	0	17332	1809	63	5	1053	5	WDR88	19	33651345	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	3175209	33651345	25477638	61	9316											
KCTD15	79047	broad.mit.edu	37	chr19	34292103	34292103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtcccggctgtctctcaCccggtcgcctgtgtctcccc	2	11	9	19	3	3	0	1	0	2	0	7	0	4	0	5	2	0	1	5	2	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:34292103C>T	ENST00000430256.3	+	3	506	c.98C>T	c.(97-99)aCc>aTc	p.T33I	KCTD15_ENST00000588881.1_Missense_Mutation_p.T33I|KCTD15_ENST00000589786.1_Missense_Mutation_p.T33I|KCTD15_ENST00000284006.6_Missense_Mutation_p.T33I			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	33					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CTGTCTCTCACCCGGTCGCCT	0.582																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	uc002nuy.4																			0				endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5						c.(97-99)aCc>aTc		Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA.							95	91	92					19																	34292103		2203	4300	6503	SO:0001583	missense	79047					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:34292103C>T	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"potassium channel tetramerisation domain containing 15"			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.98C>T	19.37:g.34292103C>T	ENSP00000394390:p.Thr33Ile					KCTD15_uc002nuv.3_Missense_Mutation_p.T33I|KCTD15_uc002nuw.4_Missense_Mutation_p.T33I|KCTD15_uc010xrt.2_Missense_Mutation_p.T33I|KCTD15_uc002nux.4_Missense_Mutation_p.T33I	p.T33I	NM_001129994	NP_001123467	Q96SI1	KCD15_HUMAN			3	366	+	Esophageal squamous(110;0.162)		33					A8K600|Q9BVI6	Missense_Mutation	SNP	ENST00000430256.3	37	c.98C>T	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834347	0.91036	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.76060	0.87;-0.99	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.27053	0.805	0.80722	D	1	D;P	0.56287	0.975;0.804	P;P	0.50754	0.649;0.463	T	0.76672	-0.2873	10	0.66056	D	0.02	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	33;33	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	I	33;33;36	ENSP00000394390:T33I;ENSP00000284006:T33I	ENSP00000284006:T33I	T	+	2	0	KCTD15	38983943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.648000	0.67930	2.571000	0.86741	0.655000	0.94253	ACC		0.582	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451462.2	NM_024076		T	34292103	C	T	34292103	3	4	135	1	0	0	0	0	1	0	0	0	8102	507	18	3	104	3	KCTD15	19	34292103	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	640758	34292103	24836880	62	9317											
ZNF470	388566	broad.mit.edu	37	chr19	57088457	57088457	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtgaaaaaacacaagcaAgaccgtggagaaaagaaact	20	5	10	6	1	0	4	0	1	0	3	0	5	0	4	1	1	3	2	1	1	8	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:57088457A>G	ENST00000330619.8	+	6	1346	c.660A>G	c.(658-660)caA>caG	p.Q220Q	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.Q220Q	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACACAAGCAAGACCGTGGAG	0.308																																						uc002qnl.4																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(658-660)caA>caG		Homo sapiens zinc finger protein 470 (ZNF470), mRNA.							38	39	39					19																	57088457		2203	4297	6500	SO:0001819	synonymous_variant	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088457A>G	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.660A>G	19.37:g.57088457A>G						ZNF470_uc010etn.3_Intron	p.Q220Q	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	5	1336	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	220					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	37	c.660A>G	CCDS33122.1																																																																																				0.308	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		G	57088457	A	G	57088457	2	3	135	1	0	0	0	0	0	0	0	1	17926	69	3	4		4	ZNF470	19	57088457	Silent	SNP	A	TCGA-14-0871-01A-01W-0424-08	22796354	57088457	2040526	63	9318											
ZNF324	25799	broad.mit.edu	37	chr19	58983498	58983498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgggcccagccgccGtctcgcagccagcggaggtc	4	4	14	19	6	1	0	0	0	1	0	4	1	1	1	6	3	3	1	6	3	0	0	rs530266629		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:58983498G>A	ENST00000536459.2	+	4	2348	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I	ZNF324_ENST00000535298.1_Missense_Mutation_p.V324I|ZNF324_ENST00000196482.3_Missense_Mutation_p.V547I|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCAGCCGCCGTCTCGCAGCC	0.652													G|||	1	0.000199681	0	0	5008	,	,		17217	0.001		0	False		,,,				2504	0					uc002qsw.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1639-1641)Gtc>Atc		Homo sapiens zinc finger protein 324 (ZNF324), mRNA.							17	19	19					19																	58983498		2129	4210	6339	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983498G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1639G>A	19.37:g.58983498G>A	ENSP00000444812:p.Val547Ile						p.V547I	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1784	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	547					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1639G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489015	0.26686	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000535298	T;T;T	0.06294	3.43;3.43;3.32	4.1	-4.77	0.03219	.	2.019790	0.02756	N	0.118044	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39921	-0.9590	10	0.06891	T	0.86	.	5.4447	0.16529	0.4156:0.2509:0.3335:0.0	.	547	O75467	Z324A_HUMAN	I	547;547;324	ENSP00000196482:V547I;ENSP00000444812:V547I;ENSP00000439588:V324I	ENSP00000196482:V547I	V	+	1	0	ZNF324	63675310	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.745000	0.04834	-0.820000	0.04318	0.455000	0.32223	GTC		0.652	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		A	58983498	G	A	58983498	3	1	135	1	0	0	0	0	1	0	0	0	17841	1145	40	1	1649	1	ZNF324	19	58983498	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	1895041	58983498	145485	64	9319											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047750	46047750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccagccggcttgctgcaCcacctcctgctgcagaccct	5	8	9	19	1	0	1	0	0	0	1	1	1	1	1	6	1	6	5	6	1	0	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr21:46047750C>A	ENST00000397911.3	+	1	711	c.662C>A	c.(661-663)aCc>aAc	p.T221N	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	221	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTTGCTGCACCACCTCCTGC	0.657																																						uc002zfp.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(661-663)aCc>aAc		Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.							142	160	154					21																	46047750		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047750C>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.662C>A	21.37:g.46047750C>A	ENSP00000381009:p.Thr221Asn					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.T221N	NM_198690	NP_941963	P60411	KR109_HUMAN			0	711	+			221			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.662C>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	c	1.708	-0.499887	0.04291	.	.	ENSG00000221837	ENST00000397911	T	0.01414	4.92	2.05	-1.23	0.09465	.	.	.	.	.	T	0.05410	0.0143	M	0.78049	2.395	0.09310	N	1	D	0.62365	0.991	D	0.78314	0.991	T	0.28554	-1.0040	8	.	.	.	.	2.4248	0.04457	0.4524:0.3184:0.0:0.2292	.	221	P60411	KR109_HUMAN	N	221	ENSP00000381009:T221N	.	T	+	2	0	KRTAP10-9	44872178	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.567000	0.05916	-0.503000	0.06586	0.655000	0.94253	ACC		0.657	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			A	46047750	C	A	46047750	3	1	135	1	0	0	0	0	1	0	0	0	8516	507	18	5	664	5	KRTAP10-9	21	46047750	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		46047750	2082145	65	9320											
NUP62CL	54830	broad.mit.edu	37	chrX	106397360	106397360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcaatgtatggtcccaaGcattgacctgagtggcctgg	10	10	11	10	0	1	2	1	2	0	0	2	2	2	2	3	3	1	2	3	3	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:106397360G>C	ENST00000372466.4	-	5	562	c.311C>G	c.(310-312)gCt>gGt	p.A104G	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	104					protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						ATGGTCCCAAGCATTGACCTG	0.388																																						uc004ena.3																			0				lung(4)	4						c.(310-312)gCt>gGt		Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.							106	90	95					X																	106397360		2203	4300	6503	SO:0001583	missense	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106397360G>C	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.311C>G	X.37:g.106397360G>C	ENSP00000361544:p.Ala104Gly					NUP62CL_uc004enb.3_Intron	p.A104G	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN			4	570	-			104					D3DUX4|Q8WVL6|Q9NXP2	Missense_Mutation	SNP	ENST00000372466.4	37	c.311C>G	CCDS14527.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.13|14.13	2.444068|2.444068	0.43429|0.43429	.|.	.|.	ENSG00000198088|ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000421752|ENST00000432145	T;T|.	0.78126|.	-1.15;-1.15|.	5.81|5.81	0.0799|0.0799	0.14418|0.14418	Nucleoporin, NSP1-like, C-terminal (2);|.	0.310878|.	0.38837|.	N|.	0.001557|.	T|T	0.72195|0.72195	0.3430|0.3430	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	D|.	0.67231|.	0.95|.	T|T	0.67658|0.67658	-0.5614|-0.5614	10|5	0.46703|.	T|.	0.11|.	0.0776|0.0776	7.1351|7.1351	0.25523|0.25523	0.0939:0.0:0.3712:0.5349|0.0939:0.0:0.3712:0.5349	.|.	104|.	Q9H1M0|.	N62CL_HUMAN|.	G|W	104|35	ENSP00000361544:A104G;ENSP00000405906:A104G|.	ENSP00000361543:A104G|.	A|C	-|-	2|3	0|2	NUP62CL|NUP62CL	106284016|106284016	1.000000|1.000000	0.71417|0.71417	0.029000|0.029000	0.17559|0.17559	0.213000|0.213000	0.24496|0.24496	3.261000|3.261000	0.51530|0.51530	-0.461000|-0.461000	0.06993|0.06993	0.523000|0.523000	0.50628|0.50628	GCT|TGC		0.388	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		C	106397360	G	C	106397360	3	2	135	1	0	0	0	0	1	0	0	0	10769	971	34	5	259	5	NUP62CL	23	106397360	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		106397360	48873200	66	9321											
UBE2NL	389898	broad.mit.edu	37	chrX	142967486	142967487	+	Missense_Mutation	DNP	AG	AG	TA																															tttagatattttgaaagataAgtggtccccagccctgcaga																										TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:142967486_142967487AG>TA	ENST00000370494.1	+	1	314_315	c.284_285AG>TA	c.(283-285)aAG>aTA	p.K95I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	95						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAAGATAAGTGGTCCCCAG	0.421																																						uc004fca.3																			0		p.K95*(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(283-285)aag>aTA		Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.																																				SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967486_142967487AG>TA			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	Exception_encountered	X.37:g.142967486_142967487delinsTA	ENSP00000359525:p.Lys95Ile						p.K95I	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			0	314_315	+	Acute lymphoblastic leukemia(192;6.56e-05)		95					E9KL27	Missense_Mutation	DNP	ENST00000370494.1	37	c.284_285AG>TA	CCDS35420.1																																																																																				0.421	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		TA	142967487	AG	TA	142967486	3	4	135	1	0	0	0	0	1	0	0	0	16864	72	3	5	286	5	UBE2NL	23	142967486	Missense_Mutation	DNP	AG	TCGA-14-0871-01A-01W-0424-08	36570126	142967486	12303074	67	9322											
GABRQ	55879	broad.mit.edu	37	chrX	151808911	151808911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagatacgatgtccgcctGagaccgaattttggaggtaa	12	10	11	8	3	1	2	1	1	0	2	2	6	2	3	3	2	1	1	3	2	4	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:151808911G>A	ENST00000370306.2	+	2	242	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	74					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGTCCGCCTGAGACCGAATT	0.463																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(220-222)ctG>ctA		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.							154	131	139					X																	151808911		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151808911G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.222G>A	X.37:g.151808911G>A							p.L74L	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			1	242	+	Acute lymphoblastic leukemia(192;6.56e-05)		74					A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.222G>A	CCDS14707.1																																																																																				0.463	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		A	151808911	G	A	151808911	2	1	135	1	0	0	0	0	0	0	0	1	6175	1277	45	3		3	GABRQ	23	151808911	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	8841425	151808911	3461649	68	9323											
MPL	4352	broad.mit.edu	37	chr1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgccccactttggaacccGatacgtgtgccagtttccag	8	10	9	14	2	0	0	0	0	0	0	1	2	1	1	5	1	4	1	5	1	2	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:43804269G>A	ENST00000372470.3	+	3	311	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_ENST00000413998.2_Missense_Mutation_p.R90Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	90					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(268-270)cGa>cAa		Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.							113	98	103					1																	43804269		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804269G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.269G>A	1.37:g.43804269G>A	ENSP00000361548:p.Arg90Gln					MPL_uc001civ.3_Missense_Mutation_p.R90Q|MPL_uc009vwr.3_Missense_Mutation_p.R83Q	p.R90Q	NM_005373	NP_005364	P40238	TPOR_HUMAN			2	314	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	90					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.269G>A	CCDS483.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987773	0.53934	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.69685	-0.42;-0.42	5.59	4.68	0.58851	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.131328	0.51477	N	0.000083	T	0.78861	0.4350	M	0.73598	2.24	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.69491	-0.5131	10	0.36615	T	0.2	-8.7946	10.5558	0.45117	0.0892:0.0:0.9108:0.0	.	83;90;90	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	Q	90	ENSP00000361548:R90Q;ENSP00000414004:R90Q	ENSP00000361546:R90Q	R	+	2	0	MPL	43576856	0.731000	0.28111	0.040000	0.18447	0.403000	0.30841	3.493000	0.53266	1.367000	0.46095	0.557000	0.71058	CGA		0.572	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		A	43804269	G	A	43804269	3	1	136	1	0	0	0	0	1	0	0	0	9730	1058	37	2	279	2	MPL	1	43804269	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		43804269	205446352	1	9324											
C1orf104	23623	broad.mit.edu	37	chr1	155291139	155291139	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtcccttcctctgggaGtaaggggtaggctggagggc	5	9	18	9	0	1	0	0	0	1	0	3	2	3	2	2	7	0	3	2	7	2	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:155291139G>A	ENST00000368352.5	+	2	65				RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCCTCTGGGAGTAAGGGGTAG	0.647																																						uc001fki.3																			0											c.(139-141)taC>taT		Homo sapiens RUSC1 antisense RNA 1 (non-protein coding) (RUSC1-AS1), mRNA.							18	19	18					1																	155291139		1855	4090	5945	SO:0001627	intron_variant	284618							g.chr1:155291139G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-86-340G>A	1.37:g.155291139G>A						RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_Intron|RUSC1_uc001fkj.2_Intron|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	p.Y47Y	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN			1	418	-			47					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.141C>T	CCDS41410.1																																																																																				0.647	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			A	155291139	G	A	155291139	1	1	136	0	1	0	0	0	0	0	0	0	1978	1024	36	3		3	C1orf104	1	155291139	Intron	SNP	G	TCGA-14-1043-01B-11D-1845-08	111486870	155291139	93959482	2	9325											
SPTA1	6708	broad.mit.edu	37	chr1	158617395	158617395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccttacgatcctttgtaCgcccctgcaggtcttcccag	5	13	7	16	2	2	0	0	0	2	0	5	1	4	0	5	1	3	2	5	1	2	4	rs201407861		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:158617395C>T	ENST00000368147.4	-	27	4010	c.3830G>A	c.(3829-3831)cGt>cAt	p.R1277H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1277					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557																																						uc001fst.1																			3	Substitution - Missense(3)	p.R1277L(4)|p.R1277H(2)|p.R1277C(1)	lung(2)|large_intestine(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3829-3831)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.		C	HIS/ARG	1,3951		0,1,1975	115	116	115		3830	-5.2	0	1		115	0,8294		0,0,4147	yes	missense	SPTA1	NM_003126.2	29	0,1,6122	TT,TC,CC		0.0,0.0253,0.0082	benign	1277/2420	158617395	1,12245	1976	4147	6123	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617395C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3830G>A	1.37:g.158617395C>T	ENSP00000357129:p.Arg1277His						p.R1277H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			26	4029	-	all_hematologic(112;0.0378)		1277					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3830G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	7.837	0.721030	0.15372	2.53E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	4.43	-5.2	0.02823	.	.	.	.	.	T	0.14141	0.0342	L	0.39397	1.21	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.32929	-0.9888	9	0.49607	T	0.09	.	6.0835	0.19954	0.5503:0.2286:0.0:0.221	.	1277	P02549	SPTA1_HUMAN	H	1277	ENSP00000357130:R1277H;ENSP00000357129:R1277H	ENSP00000357129:R1277H	R	-	2	0	SPTA1	156884019	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.152000	0.16302	-1.269000	0.02436	0.563000	0.77884	CGT		0.557	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158617395	C	T	158617395	3	4	136	1	0	0	0	0	1	0	0	0	15115	536	19	1	3533	1	SPTA1	1	158617395	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	3326256	158617395	90633226	3	9326											
CEP350	9857	broad.mit.edu	37	chr1	179989186	179989186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacagctggaagtttactCtcccatctcttgagtttaga	10	13	9	9	0	2	2	0	1	2	1	4	4	2	4	1	2	3	3	1	2	4	5			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:179989186C>G	ENST00000367607.3	+	12	2695	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	759					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTTTACTCTCCCATCTCT	0.403																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2275-2277)ctC>ctG		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							137	139	139					1																	179989186		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179989186C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2277C>G	1.37:g.179989186C>G						CEP350_uc009wxl.2_Silent_p.L758L|CEP350_uc001gnu.3_Silent_p.L593L	p.L759L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			11	2660	+			759					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.2277C>G	CCDS1336.1																																																																																				0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	179989186	C	G	179989186	2	3	136	1	0	0	0	0	0	0	0	1	3254	900	32	5		5	CEP350	1	179989186	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08	21371791	179989186	69261435	4	9327											
CAMKV	79012	broad.mit.edu	37	chr3	49896857	49896857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggggctgtgctgtccGgctgggccatagccggctca	3	9	15	14	2	2	0	1	0	1	0	3	0	3	0	4	5	2	4	4	5	1	1			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:49896857G>T	ENST00000477224.1	-	11	1878	c.1400C>A	c.(1399-1401)cCg>cAg	p.P467Q	CAMKV_ENST00000466940.1_Missense_Mutation_p.P393Q|TRAIP_ENST00000473863.1_5'Flank|CAMKV_ENST00000467248.1_Missense_Mutation_p.P392Q|TRAIP_ENST00000331456.2_5'Flank|CAMKV_ENST00000463537.1_Silent_p.R399R|CAMKV_ENST00000488336.1_Missense_Mutation_p.P436Q|CAMKV_ENST00000296471.7_Missense_Mutation_p.P439Q|TRAIP_ENST00000469027.1_5'Flank|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	467	Ala-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTGCTGTCCGGCTGGGCCAT	0.652																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(1399-1401)cCg>cAg		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							69	70	70					3																	49896857		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49896857G>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1400C>A	3.37:g.49896857G>T	ENSP00000419195:p.Pro467Gln					TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q	p.P467Q	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	10	1593	-			467			Ala-rich.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.1400C>A	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903440	0.52333	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T	0.72615	-0.67;-0.14;-0.18;-0.42;1.66	5.33	4.46	0.54185	.	0.000000	0.42294	D	0.000740	T	0.57710	0.2072	N	0.19112	0.55	0.31439	N	0.672212	B;P;P;P;B;B;B	0.44690	0.054;0.808;0.841;0.841;0.09;0.09;0.054	B;P;B;B;B;B;B	0.44518	0.01;0.452;0.218;0.218;0.06;0.022;0.015	T	0.66023	-0.6026	10	0.72032	D	0.01	.	8.586	0.33657	0.0806:0.0:0.767:0.1524	.	393;399;467;392;439;436;467	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	Q	439;436;467;392;393	ENSP00000296471:P439Q;ENSP00000418809:P436Q;ENSP00000419195:P467Q;ENSP00000420053:P392Q;ENSP00000420724:P393Q	ENSP00000296471:P439Q	P	-	2	0	CAMKV	49871861	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.902000	0.28459	1.470000	0.48102	0.655000	0.94253	CCG		0.652	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		T	49896857	G	T	49896857	3	4	136	1	0	0	0	0	1	0	0	0	2608	1116	39	5	109	5	CAMKV	3	49896857	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		49896857	148125573	5	9328											
C3orf26	84319	broad.mit.edu	37	chr3	99891168	99891168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttggaacaggtccaggcGcaggtaaagttgctggagaa	12	8	14	7	1	1	1	0	0	1	1	2	3	2	2	1	5	2	4	1	5	4	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:99891168G>A	ENST00000421999.2	+	8	734	c.588G>A	c.(586-588)gcG>gcA	p.A196A	CMSS1_ENST00000489081.1_Silent_p.A178A	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	196							poly(A) RNA binding (GO:0044822)										AGGTCCAGGCGCAGGTAAAGT	0.413																																						uc003dtl.3																			0				large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						c.(586-588)gcG>gcA		Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.							68	72	70					3																	99891168		2203	4300	6503	SO:0001819	synonymous_variant	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99891168G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.588G>A	3.37:g.99891168G>A						C3orf26_uc021xbt.1_Silent_p.A178A	p.A196A	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			7	734	+			196					A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.588G>A	CCDS2935.1																																																																																				0.413	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		A	99891168	G	A	99891168	2	1	136	1	0	0	0	0	0	0	0	1	2218	1074	38	1		1	C3orf26	3	99891168	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08	49994311	99891168	98131262	6	9329											
FXR1	8087	broad.mit.edu	37	chr3	180651171	180651172	+	Frame_Shift_Del	DEL	AT	AT	-																															ccttacagttgtttttgaaaAtaagtaagttatttttgttg																										TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:180651171_180651172delAT	ENST00000357559.4	+	2	485_486	c.101_102delAT	c.(100-102)aatfs	p.N35fs	FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000445140.2_Frame_Shift_Del_p.N35fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.N22fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	35	Agenet-like 1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTTTTTGAAAATAAGTAAGTTA	0.332																																						uc003fkq.3																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(100-102)aatfs		Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180651171_180651172delAT	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.101_102delAT	3.37:g.180651171_180651172delAT	ENSP00000350170:p.Asn35fs					FXR1_uc003fkp.3_5'UTR|FXR1_uc003fkr.3_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.2_Intron|FXR1_uc003fks.3_5'UTR|FXR1_uc011bqk.2_Intron|FXR1_uc011bql.2_Frame_Shift_Del_p.N21fs	p.N34fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		1	341_342	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		34					A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Del	DEL	ENST00000357559.4	37	c.101_102delAT	CCDS3238.1																																																																																				0.332	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			-	180651172	AT	-	180651171	7	5	136	1	0	1	0	1	0	0	0	0	6115	101	4	0	107	0	FXR1	3	180651171	Frame_Shift_Del	DEL	AT	TCGA-14-1043-01B-11D-1845-08	80760003	180651171	17371259	7	9330											
RICTOR	253260	broad.mit.edu	37	chr5	38950386	38950386	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgattctctgtaccaaaAttcttggtgaattttaagtc	10	17	7	7	0	2	2	0	2	2	0	4	2	2	2	1	1	1	1	1	1	5	6			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:38950386A>C	ENST00000357387.3	-	31	3594	c.3564T>G	c.(3562-3564)aaT>aaG	p.N1188K	RICTOR_ENST00000296782.5_Missense_Mutation_p.N1188K	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTACCAAAATTCTTGGTGA	0.358																																						uc003jlo.2																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3562-3564)aaT>aaG		Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.							138	150	146					5																	38950386		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950386A>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3564T>G	5.37:g.38950386A>C	ENSP00000349959:p.Asn1188Lys					RICTOR_uc003jlp.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K	p.N1188K	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			30	3586	-	all_lung(31;0.000396)		1188						Missense_Mutation	SNP	ENST00000357387.3	37	c.3564T>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	A	0.573	-0.840411	0.02692	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.40225	1.04;1.04	5.86	3.48	0.39840	.	0.449544	0.30347	N	0.009829	T	0.24275	0.0588	N	0.08118	0	0.21499	N	0.999661	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.19647	-1.0299	10	0.66056	D	0.02	-4.8453	11.5657	0.50805	0.8146:0.0:0.1854:0.0	.	1188;1188	Q6R327;Q6R327-3	RICTR_HUMAN;.	K	1188	ENSP00000349959:N1188K;ENSP00000296782:N1188K	ENSP00000296782:N1188K	N	-	3	2	RICTOR	38986143	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	0.874000	0.28065	0.198000	0.20407	-1.162000	0.01777	AAT		0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		C	38950386	A	C	38950386	3	2	136	1	0	0	0	0	1	0	0	0	13358	98	4	5	1594	5	RICTOR	5	38950386	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08		38950386	141964874	8	9331											
SV2C	22987	broad.mit.edu	37	chr5	75427791	75427791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgaggccaacgatgaCgaaggctcaagtgaagccac	14	5	13	9	2	1	3	1	3	0	0	1	5	1	3	2	3	2	1	2	3	5	0			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:75427791C>T	ENST00000502798.2	+	2	658	c.216C>T	c.(214-216)gaC>gaT	p.D72D	SV2C_ENST00000322285.7_Silent_p.D72D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	72					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.D72D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498																																						uc003kei.1																			1	Substitution - coding silent(1)	p.D72D(2)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(214-216)gaC>gaT		Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.							84	87	86					5																	75427791		2084	4235	6319	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427791C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.216C>T	5.37:g.75427791C>T							p.D72D	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	1	350	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	72					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.216C>T	CCDS43331.1																																																																																				0.498	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			T	75427791	C	T	75427791	2	4	136	1	0	0	0	0	0	0	0	1	15416	535	19	1		1	SV2C	5	75427791	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08	36477405	75427791	105487469	9	9332											
ARRDC3	57561	broad.mit.edu	37	chr5	90671379	90671379	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaaggatattgggcctgAggtacagaaccagcaacaga	15	7	11	8	0	0	3	0	1	0	2	0	4	0	4	2	3	4	2	2	3	5	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:90671379A>C	ENST00000265138.3	-	4	828	c.562T>G	c.(562-564)Tca>Gca	p.S188A	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	188					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ATTGGGCCTGAGGTACAGAAC	0.398																																						uc003kjz.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(562-564)Tca>Gca		Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.							127	134	131					5																	90671379		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90671379A>C	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.562T>G	5.37:g.90671379A>C	ENSP00000265138:p.Ser188Ala						p.S188A	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	3	802	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	188					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.562T>G	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334267	0.60853	.	.	ENSG00000113369	ENST00000265138	T	0.09163	3.01	5.51	5.51	0.81932	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	M	0.90082	3.085	0.80722	D	1	D	0.57571	0.98	P	0.60012	0.867	T	0.41875	-0.9484	10	0.51188	T	0.08	-23.7899	15.6179	0.76780	1.0:0.0:0.0:0.0	.	188	Q96B67	ARRD3_HUMAN	A	188	ENSP00000265138:S188A	ENSP00000265138:S188A	S	-	1	0	ARRDC3	90707135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	2.094000	0.63399	0.482000	0.46254	TCA		0.398	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		C	90671379	A	C	90671379	3	2	136	1	0	0	0	0	1	0	0	0	984	304	11	5	702	5	ARRDC3	5	90671379	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	15243588	90671379	90243881	10	9333											
CDC23	8697	broad.mit.edu	37	chr5	137524677	137524677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagccaactatggcgtgAcagaagacaagttgagtgga	14	7	14	6	1	0	4	0	2	0	2	0	6	0	5	1	2	2	2	1	2	5	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:137524677A>G	ENST00000394886.2	-	16	1814	c.1784T>C	c.(1783-1785)gTc>gCc	p.V595A		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATGGCGTGACAGAAGACAA	0.493																																						uc003lcl.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1783-1785)gTc>gCc		Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.							130	122	124					5																	137524677		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524677A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1784T>C	5.37:g.137524677A>G	ENSP00000378350:p.Val595Ala						p.V595A	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1815	-			595					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1784T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977722	0.53720	.	.	ENSG00000094880	ENST00000394886	T	0.45276	0.9	5.29	4.13	0.48395	.	0.119289	0.56097	N	0.000028	T	0.28101	0.0693	N	0.22421	0.69	0.80722	D	1	B	0.16396	0.017	B	0.12156	0.007	T	0.04767	-1.0928	10	0.30078	T	0.28	-10.0554	11.1024	0.48182	0.9278:0.0:0.0722:0.0	.	595	Q9UJX2	CDC23_HUMAN	A	595	ENSP00000378350:V595A	ENSP00000378350:V595A	V	-	2	0	CDC23	137552576	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.352000	0.73027	1.040000	0.40099	0.379000	0.24179	GTC		0.493	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			G	137524677	A	G	137524677	3	3	136	1	0	0	0	0	1	0	0	0	3061	275	10	4	13	4	CDC23	5	137524677	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	46853298	137524677	43390583	11	9334											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012259	147012259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacttctagctctaggtttCgaaactccagcagctcattc	9	14	6	12	1	3	0	1	0	2	0	6	1	4	0	1	1	5	4	1	1	4	6			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:147012259C>T	ENST00000265272.5	-	13	2227	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R566Q|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R545Q	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	587						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGGTTTCGAAACTCCAG	0.388																																						uc010jgo.1																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1759-1761)cGa>cAa		Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.							191	189	189					5																	147012259		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147012259C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1760G>A	5.37:g.147012259C>T	ENSP00000265272:p.Arg587Gln					JAKMIP2_uc003loq.1_Missense_Mutation_p.R587Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|LOC153469_uc003lop.1_Intron	p.R587Q	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1908	-			587					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1760G>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	36	5.754512	0.96890	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35789	1.29;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.66847	0.947;0.947;0.947;0.947	T	0.56583	-0.7955	10	0.39692	T	0.17	.	19.891	0.96930	0.0:1.0:0.0:0.0	.	545;587;566;587	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	Q	566;587;545;566	ENSP00000421398:R566Q;ENSP00000265272:R587Q;ENSP00000328989:R545Q	ENSP00000265272:R587Q	R	-	2	0	JAKMIP2	146992452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.245000	0.78237	2.871000	0.98454	0.655000	0.94253	CGA		0.388	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		T	147012259	C	T	147012259	3	4	136	1	0	0	0	0	1	0	0	0	7941	884	31	2	708	2	JAKMIP2	5	147012259	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	9487582	147012259	33903001	12	9335											
COL12A1	1303	broad.mit.edu	37	chr6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccctctcccatgagggcGatagacaacacggtagttga	10	9	10	12	2	1	3	0	2	1	1	3	4	2	3	2	2	1	2	2	2	3	4	rs575168916		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:75866132G>A	ENST00000322507.8	-	15	3400	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031C|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1031	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCATGAGGGCGATAGACAACA	0.473													G|||	1	0.000199681	0	0.0014	5008	,	,		18374	0		0	False		,,,				2504	0					uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(3091-3093)Cgc>Tgc		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							253	238	243					6																	75866132		1958	4154	6112	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75866132G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3091C>T	6.37:g.75866132G>A	ENSP00000325146:p.Arg1031Cys					COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1031C|COL12A1_uc003pht.3_Intron	p.R1031C	NM_004370	NP_004361	Q99715	COCA1_HUMAN			13	3126	-			1031			Fibronectin type-III 7.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3091C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396956	0.42512	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59364	0.27;0.27;0.27	5.46	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.68302	0.2986	M	0.79805	2.47	0.33559	D	0.59712	D	0.76494	0.999	D	0.63033	0.91	T	0.73100	-0.4089	10	0.62326	D	0.03	.	14.6483	0.68777	0.0:0.0:0.7395:0.2605	.	1031	Q99715	COCA1_HUMAN	C	1031	ENSP00000325146:R1031C;ENSP00000412864:R1031C;ENSP00000421216:R1031C	ENSP00000325146:R1031C	R	-	1	0	COL12A1	75922852	1.000000	0.71417	0.742000	0.31022	0.170000	0.22686	2.641000	0.46587	2.543000	0.85770	0.591000	0.81541	CGC		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		A	75866132	G	A	75866132	3	1	136	1	0	0	0	0	1	0	0	0	3669	1058	37	2	6308	2	COL12A1	6	75866132	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		75866132	95248935	13	9336											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578080	90578080	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatctaacgaaagatccaGtcactgaaaccaaaaacttg	18	8	6	9	1	2	3	1	1	1	2	3	4	3	3	2	0	3	0	2	0	6	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:90578080G>A	ENST00000551025.1	+	0	6508									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAAGATCCAGTCACTGAAAC	0.388																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.3																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51						c.(5071-5073)Gtc>Atc		Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.							54	55	55					6																	90578080		1865	4097	5962			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578080G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578080G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.V1691I	p.V1691I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	5267	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1691						Missense_Mutation	SNP	ENST00000551025.1	37	c.5071G>A																																																																																					0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		A	90578080	G	A	90578080	1	1	136	0	1	0	0	0	0	0	0	0	2678	1029	36	3		3	CASP8AP2	6	90578080	RNA	SNP	G	TCGA-14-1043-01B-11D-1845-08	14711948	90578080	80536987	14	9337											
PEX1	5189	broad.mit.edu	37	chr7	92147239	92147239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccataactatgaagttttTtatattcagcatcagctttt	11	19	4	7	0	2	1	2	1	0	0	3	1	3	1	1	0	3	3	1	0	5	10			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr7:92147239T>C	ENST00000248633.4	-	5	685	c.590A>G	c.(589-591)aAa>aGa	p.K197R	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.K197R|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	197					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGAAGTTTTTTATATTCAGC	0.388																																						uc003uly.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(589-591)aAa>aGa		Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.							77	78	78					7																	92147239		2190	4295	6485	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147239T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.590A>G	7.37:g.92147239T>C	ENSP00000248633:p.Lys197Arg					PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Missense_Mutation_p.K197R|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	p.K197R	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		4	686	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	197					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.590A>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.364770	0.01235	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.94687	-3.43;-3.49	5.22	3.42	0.39159	.	0.552984	0.18792	N	0.131040	D	0.84995	0.5596	N	0.19112	0.55	0.18873	N	0.999981	B	0.23735	0.09	B	0.16289	0.015	T	0.70026	-0.4985	10	0.13470	T	0.59	-9.1545	3.158	0.06510	0.1847:0.4869:0.0:0.3284	.	197	O43933	PEX1_HUMAN	R	197	ENSP00000248633:K197R;ENSP00000394413:K197R	ENSP00000248633:K197R	K	-	2	0	PEX1	91985175	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.277000	0.18734	0.770000	0.33336	-0.375000	0.07067	AAA		0.388	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		C	92147239	T	C	92147239	3	2	136	1	0	0	0	0	1	0	0	0	11735	1841	64	4	3341	4	PEX1	7	92147239	Missense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		92147239	66991424	15	9338											
KIF12	113220	broad.mit.edu	37	chr9	116858751	116858751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggctgagttccttcgacgGctgagacctggaagggaaaa	10	8	15	8	2	0	2	0	2	0	1	2	6	1	4	2	4	0	3	2	4	3	2			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr9:116858751G>A	ENST00000374118.3	-	5	477	c.240C>T	c.(238-240)agC>agT	p.S80S	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCTTCGACGGCTGAGAcctg	0.547																																						uc004bif.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(238-240)agC>agT		Homo sapiens kinesin family member 12 (KIF12), mRNA.							82	63	70					9																	116858751		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858751G>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.240C>T	9.37:g.116858751G>A						KIF12_uc004big.3_Non-coding_Transcript	p.S80S	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			4	478	-			213			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.240C>T	CCDS6801.1																																																																																				0.547	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		A	116858751	G	A	116858751	2	1	136	1	0	0	0	0	0	0	0	1	8273	1194	42	3		3	KIF12	9	116858751	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		116858751	24354680	16	9339											
OR5F1	338674	broad.mit.edu	37	chr11	55761884	55761884	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggggtgatggtagttgagTtacaaacgtccacaaaggac	12	10	13	6	1	0	2	0	2	0	0	1	3	1	3	1	4	2	3	1	4	4	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr11:55761884T>G	ENST00000278409.1	-	1	217	c.218A>C	c.(217-219)aAc>aCc	p.N73T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGTAGTTGAGTTACAAACGTC	0.443																																						uc010riv.2																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(217-219)aAc>aCc		Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.							63	60	61					11																	55761884		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761884T>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.218A>C	11.37:g.55761884T>G	ENSP00000278409:p.Asn73Thr						p.N73T	NM_003697	NP_003688	O95221	OR5F1_HUMAN			0	218	-	Esophageal squamous(21;0.00448)		73					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.218A>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	1.759	-0.487347	0.04352	.	.	ENSG00000149133	ENST00000278409	T	0.01335	5.0	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	N	0.02751	-0.505	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48559	-0.9025	9	0.87932	D	0	.	2.7854	0.05372	0.2237:0.131:0.0:0.6453	.	73	O95221	OR5F1_HUMAN	T	73	ENSP00000278409:N73T	ENSP00000278409:N73T	N	-	2	0	OR5F1	55518460	0.000000	0.05858	0.079000	0.20413	0.051000	0.14879	-0.011000	0.12721	1.167000	0.42706	0.247000	0.18012	AAC		0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		G	55761884	T	G	55761884	3	3	136	1	0	0	0	0	1	0	0	0	11158	1725	60	5	729	5	OR5F1	11	55761884	Missense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		55761884	79244632	17	9340											
RFX4	5992	broad.mit.edu	37	chr12	107048021	107048021	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggctggaggagaactaTgagattgcagagggggtctg	10	8	17	6	0	1	3	0	1	1	3	1	6	1	4	1	5	2	2	1	5	3	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr12:107048021T>G	ENST00000392842.1	+	4	621	c.207T>G	c.(205-207)taT>taG	p.Y69*	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Nonsense_Mutation_p.Y78*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	69					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGGAGAACTATGAGATTGCAG	0.488																																						uc001tlt.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(232-234)taT>taG		Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.							111	111	111					12																	107048021		2203	4300	6503	SO:0001587	stop_gained	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107048021T>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.207T>G	12.37:g.107048021T>G	ENSP00000376585:p.Tyr69*					LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Nonsense_Mutation_p.Y69*|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Nonsense_Mutation_p.Y78*	p.Y78*	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN			3	374	+			69					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Nonsense_Mutation	SNP	ENST00000392842.1	37	c.234T>G	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	T	36	5.736301	0.96865	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640	.	.	.	5.84	-5.04	0.02964	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1156	17.3848	0.87413	0.0:0.6303:0.0:0.3697	.	.	.	.	X	69;78;78;14	.	ENSP00000266774:Y78X	Y	+	3	2	RFX4	105572151	0.004000	0.15560	0.898000	0.35279	0.992000	0.81027	-1.296000	0.02762	-1.162000	0.02797	-0.408000	0.06270	TAT		0.488	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		G	107048021	T	G	107048021	4	3	136	1	0	0	0	0	0	1	0	0	13265	1471	51	5	295	5	RFX4	12	107048021	Nonsense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		107048021	26803874	18	9341											
NEIL1	79661	broad.mit.edu	37	chr15	75641495	75641495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcttcggcatgtccggCtcttttcagctggtgccccg	2	13	11	15	4	2	0	1	0	1	0	5	0	4	0	4	3	2	4	4	3	0	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr15:75641495C>T	ENST00000564784.1	+	3	878	c.249C>T	c.(247-249)ggC>ggT	p.G83G	NEIL1_ENST00000355059.4_Silent_p.G83G|NEIL1_ENST00000569035.1_Silent_p.G83G|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	83			G -> D (in dbSNP:rs5745906). {ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCATGTCCGGCTCTTTTCAGC	0.687								Base excision repair (BER), DNA glycosylases																														uc002bae.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(505-507)ggC>ggT	Base excision repair (BER), DNA glycosylases	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.							36	33	34					15																	75641495		2197	4294	6491	SO:0001819	synonymous_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641495C>T	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.249C>T	15.37:g.75641495C>T						NEIL1_uc002bad.3_Silent_p.G83G	p.G169G	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			1	660	+			83					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	c.507C>T	CCDS10278.1																																																																																				0.687	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		T	75641495	C	T	75641495	2	4	136	1	0	0	0	0	0	0	0	1	10318	784	28	3		3	NEIL1	15	75641495	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08		75641495	26889897	19	9342											
CAMKK1	84254	broad.mit.edu	37	chr17	3779538	3779538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccactgaagctctggccGgaatcagaaatggcctcggg	9	8	12	12	2	2	2	1	1	1	1	4	3	3	3	3	4	1	1	3	4	3	1	rs560406629	byFrequency	TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:3779538G>A	ENST00000348335.2	-	10	1123	c.975C>T	c.(973-975)tcC>tcT	p.S325S	CAMKK1_ENST00000381769.2_Silent_p.S352S|CAMKK1_ENST00000381771.2_Silent_p.S363S|CAMKK1_ENST00000158166.5_Silent_p.S363S	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGCTCTGGCCGGAATCAGAAA	0.622													G|||	3	0.000599042	0	0	5008	,	,		15341	0		0	False		,,,				2504	0.0031					uc002fwv.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1087-1089)tcC>tcT		Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.							48	44	46					17																	3779538		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3779538G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.975C>T	17.37:g.3779538G>A						CAMKK1_uc002fwt.3_Silent_p.S325S|CAMKK1_uc002fwu.3_Silent_p.S325S	p.S363S	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1237	-			325			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.1089C>T	CCDS11038.1																																																																																				0.622	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		A	3779538	G	A	3779538	2	1	136	1	0	0	0	0	0	0	0	1	2606	1103	39	2		2	CAMKK1	17	3779538	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		3779538	77415672	20	9343											
NF1	4763	broad.mit.edu	37	chr17	29560133	29560133	+	Frame_Shift_Del	DEL	C	C	-																															cagaaacagtattggctgatCggtttgagagattggtggaa																								rs199474732		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29560133delC	ENST00000358273.4	+	27	3993	c.3610delC	c.(3610-3612)cggfs	p.R1204fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.R1204fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1204			R -> G (in NF1; dbSNP:rs199474732). {ECO:0000269|PubMed:10336779}.|R -> W (in NF1; dbSNP:rs199474732). {ECO:0000269|PubMed:10607834}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R1204W(1)|p.G1190fs*1(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGGCTGATCGGTTTGAGAG	0.453			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.R1204W(2)|p.G1190fs*1(1)|p.D1203H(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|ovary(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM000027|CM973234	NF1	M		c.(3610-3612)cggfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							131	113	119					17																	29560133		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29560133delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3610delC	17.37:g.29560133delC	ENSP00000351015:p.Arg1204fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.R1204fs|NF1_uc010csn.2_Frame_Shift_Del_p.R1064fs|NF1_uc002hgi.1_Frame_Shift_Del_p.R237fs	p.R1204fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	26	3993	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1204		R -> G (in NF1).|R -> W (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3610delC	CCDS42292.1																																																																																				0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29560133	C	-	29560133	7	5	136	1	0	1	0	1	0	0	0	0	10356	875	31	0	3777	0	NF1	17	29560133	Frame_Shift_Del	DEL	C	TCGA-14-1043-01B-11D-1845-08	25780595	29560133	51635077	21	9344											
NF1	4763	broad.mit.edu	37	chr17	29661945	29661945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcataatgatgatgccaaaCgacaaagagttactgctatt	16	10	8	7	1	0	3	0	2	0	1	0	4	0	3	1	0	5	3	1	0	5	4	rs137854552		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29661945C>T	ENST00000358273.4	+	40	6285	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Nonsense_Mutation_p.R1947*|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1968					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R1968*(3)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGATGCCAAACGACAAAGAGT	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Substitution - Nonsense(3)|Unknown(3)	p.0?(8)|p.R1968*(6)|p.?(3)	soft_tissue(8)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM900173	NF1	M	rs137854552	c.(5902-5904)Cga>Tga		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							131	119	123					17																	29661945		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661945C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5902C>T	17.37:g.29661945C>T	ENSP00000351015:p.Arg1968*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.R1947*|NF1_uc010cso.3_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.R1968*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	6285	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1968					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5902C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	49	15.179225	0.99825	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.975	0.71264	0.1858:0.8142:0.0:0.0	.	.	.	.	X	1968;1947;1613	.	ENSP00000348498:R1947X	R	+	1	2	NF1	26686071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.867000	0.48428	1.079000	0.41038	0.557000	0.71058	CGA		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29661945	C	T	29661945	4	4	136	1	0	0	0	0	0	1	0	0	10356	528	19	1	6121	1	NF1	17	29661945	Nonsense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	101812	29661945	51533265	22	9345											
HOXB8	3218	broad.mit.edu	37	chr17	46692020	46692020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattggggcgcagggactccCcggttttgtatttggagaac	8	11	14	8	2	0	1	0	0	0	1	1	3	1	2	2	5	1	3	2	5	3	5			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:46692020C>G	ENST00000239144.4	-	1	281	c.47G>C	c.(46-48)gGg>gCg	p.G16A	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.G16A	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	16					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						CAGGGACTCCCCGGTTTTGTA	0.587																																						uc002inw.3																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(46-48)gGg>gCg		Homo sapiens homeobox B8 (HOXB8), mRNA.							9	10	10					17																	46692020		2189	4271	6460	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46692020C>G		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.47G>C	17.37:g.46692020C>G	ENSP00000239144:p.Gly16Ala						p.G16A	NM_024016	NP_076921	P17481	HXB8_HUMAN			0	282	-			16					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.47G>C	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	c	15.23	2.771684	0.49680	.	.	ENSG00000120068	ENST00000239144	T	0.42131	0.98	2.86	2.86	0.33363	.	0.000000	0.64402	U	0.000020	T	0.55721	0.1938	L	0.49778	1.585	0.50171	D	0.999856	D	0.76494	0.999	D	0.78314	0.991	T	0.56727	-0.7931	10	0.42905	T	0.14	.	13.7619	0.62971	0.0:1.0:0.0:0.0	.	16	P17481	HXB8_HUMAN	A	16	ENSP00000239144:G16A	ENSP00000239144:G16A	G	-	2	0	HOXB8	44047019	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.156000	0.77453	1.443000	0.47586	0.290000	0.19541	GGG		0.587	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			G	46692020	C	G	46692020	3	3	136	1	0	0	0	0	1	0	0	0	7307	623	22	5	692	5	HOXB8	17	46692020	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	17030075	46692020	34503190	23	9346											
MUC16	94025	broad.mit.edu	37	chr19	9062384	9062384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggaggtcctcacgttGgtcactgctgtgtgtgtgga	7	12	15	7	1	2	0	2	0	0	0	3	3	3	2	1	4	1	2	1	4	1	1			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:9062384G>T	ENST00000397910.4	-	3	25265	c.25062C>A	c.(25060-25062)acC>acA	p.T8354T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8356	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTCACGTTGGTCACTGCTG	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25060-25062)acC>acA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							199	195	196					19																	9062384		2115	4229	6344	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062384G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25062C>A	19.37:g.9062384G>T							p.T8354T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	25266	-			8356			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.25062C>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9062384	G	T	9062384	2	4	136	1	0	0	0	0	0	0	0	1	9973	1335	47	5		5	MUC16	19	9062384	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		9062384	50066599	24	9347											
ZNF653	115950	broad.mit.edu	37	chr19	11594572	11594572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttctcgaagcgcttcccGcagcgatcgcacgtgaagtt	8	9	11	13	6	1	1	0	1	1	0	4	3	2	1	1	0	3	5	1	0	2	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:11594572G>A	ENST00000293771.5	-	9	1909	c.1773C>T	c.(1771-1773)tgC>tgT	p.C591C	CTC-398G3.6_ENST00000585656.1_Intron|ELAVL3_ENST00000592218.1_5'Flank|ELAVL3_ENST00000359227.3_5'Flank	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCGCTTCCCGCAGCGATCGC	0.612																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.(1771-1773)tgC>tgT		Homo sapiens zinc finger protein 653 (ZNF653), mRNA.							202	151	168					19																	11594572		2203	4300	6503	SO:0001819	synonymous_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11594572G>A	AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1773C>T	19.37:g.11594572G>A						ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	p.C591C	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			8	1910	-			591					Q96AS7	Silent	SNP	ENST00000293771.5	37	c.1773C>T	CCDS12261.1																																																																																				0.612	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		A	11594572	G	A	11594572	2	1	136	1	0	0	0	0	0	0	0	1	18063	1079	38	1		1	ZNF653	19	11594572	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08	2532188	11594572	47534411	25	9348											
FAM83D	81610	broad.mit.edu	37	chr20	37580810	37580811	+	Frame_Shift_Ins	INS	-	-	T																															accagtctcaaaaatgtctgINStatcgagatcttccagtttg																										TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:37580810_37580811insT	ENST00000217429.4	+	4	1536_1537	c.1495_1496insT	c.(1495-1497)gtafs	p.V499fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	469					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V499I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAATGTCTGTATCGAGATCT	0.485																																						uc002xjg.3																			1	Substitution - Missense(1)	p.V499I(2)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1495-1497)gtafs		Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.																																				SO:0001589	frameshift_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580810_37580811insT	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1496dupT	20.37:g.37580811_37580811dupT	ENSP00000217429:p.Val499fs						p.V499fs	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			3	1536_1537	+		Myeloproliferative disorder(115;0.00878)	469					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Frame_Shift_Ins	INS	ENST00000217429.4	37	c.1495_1496insT	CCDS42872.1																																																																																				0.485	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			T	37580811	-	T	37580810	7	5	136	1	0	1	1	0	0	0	0	0	5636	1377	48	0	1509	0	FAM83D	20	37580810	Frame_Shift_Ins	INS	-	TCGA-14-1043-01B-11D-1845-08		37580810	25444710	26	9349											
PCK1	5105	broad.mit.edu	37	chr20	56140691	56140691	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggatgccctgaacctgaAaggcctggggcacatcaaca	12	5	13	11	0	1	2	1	2	0	0	1	4	1	4	3	5	3	1	3	5	3	0			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:56140691A>C	ENST00000319441.4	+	10	1864	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	PCK1_ENST00000543666.1_Missense_Mutation_p.K250T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	567					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGAACCTGAAAGGCCTGGGG	0.532																																						uc002xyn.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1699-1701)aAa>aCa		Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.							81	76	77					20																	56140691		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140691A>C		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1700A>C	20.37:g.56140691A>C	ENSP00000319814:p.Lys567Thr					PCK1_uc010zzm.2_Missense_Mutation_p.K250T	p.K567T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		9	1863	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		567					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1700A>C	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	A	8.585	0.883146	0.17467	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.04234	3.67;3.67	5.69	3.44	0.39384	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.360617	0.35262	N	0.003338	T	0.02380	0.0073	N	0.04148	-0.265	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.51841	-0.8654	10	0.17369	T	0.5	-9.601	10.0118	0.41990	0.8634:0.0:0.1366:0.0	.	250;567	B4DT64;P35558	.;PCKGC_HUMAN	T	249;567;250	ENSP00000319814:K567T;ENSP00000445767:K250T	ENSP00000319814:K567T	K	+	2	0	PCK1	55574097	1.000000	0.71417	0.873000	0.34254	0.643000	0.38383	2.106000	0.41835	0.432000	0.26286	0.533000	0.62120	AAA		0.532	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			C	56140691	A	C	56140691	3	2	136	1	0	0	0	0	1	0	0	0	11581	14	1	5	1734	5	PCK1	20	56140691	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	18559881	56140691	6884829	27	9350											
HUNK	30811	broad.mit.edu	37	chr21	33331245	33331245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccagaagatggtagaCaaagaaatgaaccccctccc	15	7	8	11	0	0	5	0	1	0	4	1	5	1	5	4	1	2	2	4	1	6	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr21:33331245C>A	ENST00000270112.2	+	5	1197	c.837C>A	c.(835-837)gaC>gaA	p.D279E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGATGGTAGACAAAGAAATGA	0.537																																						uc002yph.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(835-837)gaC>gaA		Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.							134	122	126					21																	33331245		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33331245C>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.837C>A	21.37:g.33331245C>A	ENSP00000270112:p.Asp279Glu						p.D279E	NM_014586	NP_055401	P57058	HUNK_HUMAN			4	1197	+			279			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.837C>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290203	0.59976	.	.	ENSG00000142149	ENST00000270112	T	0.64085	-0.08	4.87	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110959	0.64402	D	0.000017	T	0.40839	0.1133	N	0.03224	-0.385	0.47547	D	0.999456	B	0.32862	0.387	B	0.35859	0.212	T	0.46359	-0.9197	10	0.48119	T	0.1	-25.1095	13.1148	0.59294	0.0:0.9227:0.0:0.0772	.	279	P57058	HUNK_HUMAN	E	279	ENSP00000270112:D279E	ENSP00000270112:D279E	D	+	3	2	HUNK	32253116	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.809000	0.47971	1.272000	0.44329	0.655000	0.94253	GAC		0.537	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		A	33331245	C	A	33331245	3	1	136	1	0	0	0	0	1	0	0	0	7458	477	17	5	855	5	HUNK	21	33331245	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08		33331245	14798650	28	9351											
ACOT11	26027	broad.mit.edu	37	chr1	55096492	55096492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaatccaggtcaaagggtcGcaggagcgacggttggaatg	11	6	16	8	4	1	0	1	0	0	0	3	4	2	2	1	5	1	2	1	5	3	1	rs377475734		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:55096492G>A	ENST00000371316.3	+	16	1797	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	RP11-240D10.4_ENST00000416119.1_RNA	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	572	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R572H(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						tcaaagggtcgcaggagcgac	0.547													G|||	1	0.000199681	0	0	5008	,	,		16720	0		0.001	False		,,,				2504	0				Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.2																			1	Substitution - Missense(1)	p.R572H(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1714-1716)cGc>cAc		Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.		G	HIS/ARG	1,4405		0,1,2202	19	21	20		1715		0.1	1		20	1,8595		0,1,4297	no	missense	ACOT11	NM_015547.3	29	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		572/608	55096492	2,13000	2203	4298	6501	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55096492G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1715G>A	1.37:g.55096492G>A	ENSP00000360366:p.Arg572His						p.R572H	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			15	1891	+			572			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1715G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	1.360	-0.589116	0.03799	2.27E-4	1.16E-4	ENSG00000162390	ENST00000371316	T	0.79033	-1.23	.	.	.	Lipid-binding START (2);	.	.	.	.	T	0.57460	0.2055	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.52793	-0.8528	5	0.87932	D	0	.	.	.	.	.	572	Q8WXI4	ACO11_HUMAN	H	572	ENSP00000360366:R572H	ENSP00000360366:R572H	R	+	2	0	ACOT11	54869080	0.096000	0.21769	0.095000	0.20976	0.095000	0.18619	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CGC		0.547	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		A	55096492	G	A	55096492	3	1	137	1	0	0	0	0	1	0	0	0	149	1087	38	1	1937	1	ACOT11	1	55096492	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		55096492	194154129	1	9352											
PGM1	5236	broad.mit.edu	37	chr1	64100595	64100595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaggactttggaggcCaccaccctgaccccaacctc	8	7	9	17	0	1	1	0	1	1	0	2	4	1	4	6	4	1	0	6	4	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:64100595C>T	ENST00000371084.3	+	5	991	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	PGM1_ENST00000371083.4_Missense_Mutation_p.H278Y|PGM1_ENST00000540265.1_Missense_Mutation_p.H63Y	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	260					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTTGGAGGCCACCACCCTGA	0.547																																						uc010ooz.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(832-834)Cac>Tac		Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.							195	188	190					1																	64100595		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64100595C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.778C>T	1.37:g.64100595C>T	ENSP00000360125:p.His260Tyr					PGM1_uc001dbh.3_Missense_Mutation_p.H260Y|PGM1_uc010ooy.2_Missense_Mutation_p.H63Y	p.H278Y	NM_001172818	NP_001166290	P36871	PGM1_HUMAN			4	1077	+			260					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.832C>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259196	0.80246	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.64085	-0.08;-0.08;-0.08	5.13	5.13	0.70059	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.91872	3.25	0.45676	D	0.998592	P;P	0.41313	0.644;0.745	B;B	0.38264	0.198;0.269	T	0.66933	-0.5798	10	0.15499	T	0.54	-4.0979	18.7907	0.91973	0.0:1.0:0.0:0.0	.	278;260	P36871-2;P36871	.;PGM1_HUMAN	Y	236;260;63;278	ENSP00000360125:H260Y;ENSP00000443449:H63Y;ENSP00000360124:H278Y	ENSP00000360124:H278Y	H	+	1	0	PGM1	63873183	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.651000	0.83577	2.656000	0.90262	0.655000	0.94253	CAC		0.547	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		T	64100595	C	T	64100595	3	4	137	1	0	0	0	0	1	0	0	0	11797	594	21	3	1100	3	PGM1	1	64100595	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	9004103	64100595	185150026	2	9353											
TCHH	7062	broad.mit.edu	37	chr1	152084715	152084735	+	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC	-																															tcctcctgctgctcgcgcctCtcctgctgctcgcgcctctc																								rs577300736|rs537487165|rs200970876|rs557415496	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	ENST00000368804.1	-	2	957_977	c.958_978delGAGAGGCGCGAGCAGCAGGAG	c.(958-978)gagaggcgcgagcagcaggagdel	p.ERREQQE320del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	320	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc	0.692																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(958-978)gagaggcgcgagcagcaggagdel		Homo sapiens trichohyalin (TCHH), mRNA.				245,20,3695		46,0,153,3,14,1764						-2	0			20	566,8,7432		56,1,453,0,7,3486	no	codingComplex	TCHH	NM_007113.2		102,1,606,3,21,5250	A1A1,A1A2,A1R,A2A2,A2R,RR		7.1696,6.6919,7.0115				811,28,11127				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.958_978delGAGAGGCGCGAGCAGCAGGAG	1.37:g.152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	ENSP00000357794:p.Glu320_Glu326del					TCHH_uc001ezp.2_In_Frame_Del_p.ERREQQE320del	p.ERREQQE320del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1230_1250	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		320			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.958_978delGAGAGGCGCGAGCAGCAGGAG	CCDS41396.1																																																																																				0.692	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		-	152084735	CTCCTGCTGCTCGCGCCTCTC	-	152084715	7	5	137	1	0	1	0	1	0	0	0	0	15697	912	32	0	4857	0	TCHH	1	152084715	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	TCGA-14-1395-01B-11D-1845-08	87984120	152084715	97165906	3	9354											
HMCN1	83872	broad.mit.edu	37	chr1	185956668	185956668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaaccgtctgtcatcTggtccaaggtaaatgataca	13	10	7	11	1	3	1	1	1	2	0	5	1	5	1	3	2	2	1	3	2	5	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:185956668T>C	ENST00000271588.4	+	20	3269	c.3040T>C	c.(3040-3042)Tgg>Cgg	p.W1014R	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.W1014R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1014	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCTGTCATCTGGTCCAAGGT	0.453																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3040-3042)Tgg>Cgg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							146	149	148					1																	185956668		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185956668T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3040T>C	1.37:g.185956668T>C	ENSP00000271588:p.Trp1014Arg					HMCN1_uc001grr.1_Missense_Mutation_p.W355R	p.W1014R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			19	3269	+			1014			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3040T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745346	0.69418	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.96300	-3.97;-3.97	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99218	1.0878	10	0.87932	D	0	.	15.3064	0.73995	0.0:0.0:0.0:1.0	.	398;1014	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	R	1014	ENSP00000271588:W1014R;ENSP00000356462:W1014R	ENSP00000271588:W1014R	W	+	1	0	HMCN1	184223291	1.000000	0.71417	0.963000	0.40424	0.626000	0.37791	7.448000	0.80631	2.024000	0.59613	0.533000	0.62120	TGG		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	185956668	T	C	185956668	3	2	137	1	0	0	0	0	1	0	0	0	7220	1580	55	4	3118	4	HMCN1	1	185956668	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08	33871953	185956668	63293953	4	9355											
CFHR5	81494	broad.mit.edu	37	chr1	196964877	196964877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtggtccacctcctcAactctccaatggtgaagtta	10	12	7	12	0	3	1	2	1	1	0	6	1	5	1	4	2	1	1	4	2	4	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:196964877A>T	ENST00000256785.4	+	5	747	c.638A>T	c.(637-639)cAa>cTa	p.Q213L	CFHR5_ENST00000367414.5_Missense_Mutation_p.Q237L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	213	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACCTCCTCAACTCTCCAAT	0.333																																						uc001gts.4																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(637-639)cAa>cTa		Homo sapiens complement factor H-related 5 (CFHR5), mRNA.							103	105	104					1																	196964877		2203	4299	6502	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964877A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.638A>T	1.37:g.196964877A>T	ENSP00000256785:p.Gln213Leu						p.Q213L	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			4	766	+			213			Sushi 4.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.638A>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	9.930	1.214581	0.22289	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.66099	-0.19;-0.19	3.39	-1.12	0.09808	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46946	0.1419	L	0.43757	1.38	0.09310	N	1	B	0.18741	0.03	B	0.22152	0.038	T	0.33033	-0.9884	9	0.28530	T	0.3	.	4.1172	0.10088	0.442:0.4275:0.1305:0.0	.	213	Q9BXR6	FHR5_HUMAN	L	237;213	ENSP00000356384:Q237L;ENSP00000256785:Q213L	ENSP00000256785:Q213L	Q	+	2	0	CFHR5	195231500	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-2.226000	0.01211	-0.050000	0.13356	0.366000	0.22137	CAA		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		T	196964877	A	T	196964877	3	4	137	1	0	0	0	0	1	0	0	0	3288	130	5	5	656	5	CFHR5	1	196964877	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08	11008209	196964877	52285744	5	9356											
OBSCN	84033	broad.mit.edu	37	chr1	228400217	228400217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcccagcaccggcacgCgcacctgcacggtgactgaa	9	3	11	18	5	0	2	0	2	0	0	0	2	0	2	4	2	2	4	4	2	1	0	rs531323105		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:228400217C>T	ENST00000422127.1	+	2	777	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R245C|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R245C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	245	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R245C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCGGCACGCGCACCTGCAC	0.746																																						uc009xez.1																			2	Substitution - Missense(2)	p.R245C(3)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(733-735)Cgc>Tgc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							16	20	19					1																	228400217		1988	4134	6122	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400217C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.733C>T	1.37:g.228400217C>T	ENSP00000409493:p.Arg245Cys					OBSCN_uc001hsn.3_Missense_Mutation_p.R245C|AK056556_uc001hsm.1_Intron	p.R245C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			1	777	+		Prostate(94;0.0405)	245			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.733C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.430813	0.62844	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.69040	-0.37;-0.37	4.12	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177033	0.38164	N	0.001791	T	0.80003	0.4544	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79734	-0.1679	10	0.37606	T	0.19	.	11.0764	0.48034	0.0:0.9087:0.0:0.0913	.	245;245	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	245	ENSP00000284548:R245C;ENSP00000409493:R245C	ENSP00000284548:R245C	R	+	1	0	OBSCN	226466840	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	3.332000	0.52083	1.840000	0.53500	0.556000	0.70494	CGC		0.746	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228400217	C	T	228400217	3	4	137	1	0	0	0	0	1	0	0	0	10812	768	27	1	735	1	OBSCN	1	228400217	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	31435340	228400217	20850404	6	9357											
KIAA1804	84451	broad.mit.edu	37	chr1	233511808	233511808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatagaacagattgcaaaGaaaggtacgtgtgtggtatc	16	9	12	4	1	0	4	0	0	0	4	1	4	0	4	0	2	3	3	0	2	7	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:233511808G>C	ENST00000366624.3	+	7	2083	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	MLK4_ENST00000366622.1_Missense_Mutation_p.E54Q	NM_032435.2	NP_115811.2																					AGATTGCAAAGAAAGGTACGT	0.348																																						uc001hvt.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52						c.(1822-1824)Gaa>Caa		Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.							53	55	54					1																	233511808		2197	4295	6492	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233511808G>C																												ENST00000366624.3:c.1822G>C	1.37:g.233511808G>C	ENSP00000355583:p.Glu608Gln					KIAA1804_uc001hvu.4_Missense_Mutation_p.E54Q	p.E608Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			6	2083	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	608						Missense_Mutation	SNP	ENST00000366624.3	37	c.1822G>C	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664532	0.47572	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.13089	2.62;2.62	5.25	5.25	0.73442	.	0.203563	0.41712	D	0.000839	T	0.39384	0.1076	M	0.70595	2.14	0.58432	D	0.999999	D;B	0.89917	1.0;0.269	D;B	0.77557	0.99;0.141	T	0.12682	-1.0538	10	0.72032	D	0.01	.	19.0551	0.93059	0.0:0.0:1.0:0.0	.	55;608	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	Q	608;54	ENSP00000355583:E608Q;ENSP00000355581:E54Q	ENSP00000355581:E54Q	E	+	1	0	RP5-862P8.2	231578431	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	9.009000	0.93606	2.730000	0.93505	0.655000	0.94253	GAA		0.348	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			C	233511808	G	C	233511808	3	2	137	1	0	0	0	0	1	0	0	0	8259	943	33	5	1848	5	KIAA1804	1	233511808	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	5111591	233511808	15738813	7	9358											
TARBP1	6894	broad.mit.edu	37	chr1	234541656	234541656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctccttaccctgctcCgtgcatgctttccacttgat	5	13	9	14	1	0	1	0	1	0	0	3	2	3	1	4	1	4	4	4	1	1	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:234541656C>T	ENST00000040877.1	-	24	3981	c.3982G>A	c.(3982-3984)Gga>Aga	p.G1328R	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1328					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACCCTGCTCCGTGCATGCTT	0.532																																						uc001hwd.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3982-3984)Gga>Aga		Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.							99	86	90					1																	234541656		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234541656C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3982G>A	1.37:g.234541656C>T	ENSP00000040877:p.Gly1328Arg						p.G1328R	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		23	3982	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1328					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3982G>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030827	0.54790	.	.	ENSG00000059588	ENST00000040877	T	0.05925	3.37	4.57	4.57	0.56435	.	0.116668	0.64402	N	0.000016	T	0.22589	0.0545	M	0.72479	2.2	0.54753	D	0.999985	D	0.89917	1.0	D	0.67231	0.95	T	0.01935	-1.1244	10	0.30854	T	0.27	-13.0593	17.3269	0.87251	0.0:1.0:0.0:0.0	.	1328	Q13395	TARB1_HUMAN	R	1328	ENSP00000040877:G1328R	ENSP00000040877:G1328R	G	-	1	0	TARBP1	232608279	0.991000	0.36638	0.883000	0.34634	0.461000	0.32589	2.844000	0.48246	2.097000	0.63578	0.462000	0.41574	GGA		0.532	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234541656	C	T	234541656	3	4	137	1	0	0	0	0	1	0	0	0	15552	661	23	2	911	2	TARBP1	1	234541656	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	1029848	234541656	14708965	8	9359											
ABCB11	8647	broad.mit.edu	37	chr2	169783711	169783711	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgagcctgttttgcAgctgctatgactctttccat	6	15	9	11	0	1	2	0	2	1	0	2	2	2	2	2	0	6	6	2	0	1	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:169783711A>T	ENST00000263817.6	-	26	3697	c.3573T>A	c.(3571-3573)gcT>gcA	p.A1191A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1191	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCTGTTTTGCAGCTGCTATGA	0.453																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3571-3573)gcT>gcA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						203	195	198					2																	169783711		1921	4131	6052	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169783711A>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3573T>A	2.37:g.169783711A>T						ABCB11_uc010zda.1_Silent_p.A609A|ABCB11_uc010zdb.1_Silent_p.A667A	p.A1191A	NM_003742	NP_003733	O95342	ABCBB_HUMAN			25	3699	-			1191			ABC transporter 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3573T>A	CCDS46444.1																																																																																				0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		T	169783711	A	T	169783711	2	4	137	1	0	0	0	0	0	0	0	1	42	175	7	5		5	ABCB11	2	169783711	Silent	SNP	A	TCGA-14-1395-01B-11D-1845-08		169783711	73415662	9	9360											
MFSD6	54842	broad.mit.edu	37	chr2	191301881	191301881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcgtcttcatcgtcttcGgcgttctcatgaccatggcc	6	13	9	13	4	4	2	2	1	3	1	8	2	4	2	2	2	0	1	2	2	0	3	rs147647208	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:191301881G>T	ENST00000392328.1	+	3	1450	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	MFSD6_ENST00000281416.7_Missense_Mutation_p.G376C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	376					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATCGTCTTCGGCGTTCTCAT	0.517																																						uc002urz.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1126-1128)Ggc>Tgc		Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.							82	69	74					2																	191301881		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301881G>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1126G>T	2.37:g.191301881G>T	ENSP00000376141:p.Gly376Cys						p.G376C	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN			2	1450	+			376					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1126G>T	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224873	0.79576	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	D;D	0.82803	-1.65;-1.65	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84544	0.0640	10	0.33141	T	0.24	-21.8064	19.848	0.96722	0.0:0.0:1.0:0.0	.	376	Q6ZSS7	MFSD6_HUMAN	C	376	ENSP00000376141:G376C;ENSP00000281416:G376C	ENSP00000281416:G376C	G	+	1	0	MFSD6	191010126	1.000000	0.71417	0.943000	0.38184	0.765000	0.43378	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GGC		0.517	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			T	191301881	G	T	191301881	3	4	137	1	0	0	0	0	1	0	0	0	9535	1116	39	5	1128	5	MFSD6	2	191301881	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	21518170	191301881	51897492	10	9361											
DNPEP	23549	broad.mit.edu	37	chr2	220246112	220246112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagggcctctgacaccGcgtttgaagcatagcgttgc	8	9	13	11	3	2	2	1	2	1	0	2	3	2	3	2	2	3	3	2	2	2	3	rs201204134		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:220246112G>A	ENST00000273075.4	-	13	1404	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.A320V|DNPEP_ENST00000523282.1_Missense_Mutation_p.A403V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	385					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTGACACCGCGTTTGAAGC	0.597																																						uc002vle.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1183-1185)gCg>gTg		Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	L-Glutamic Acid(DB00142)						191	196	194					2																	220246112		2056	4201	6257	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220246112G>A		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1184C>T	2.37:g.220246112G>A	ENSP00000273075:p.Ala395Val					DNPEP_uc002vli.2_Missense_Mutation_p.A342V|DNPEP_uc010zlg.2_Missense_Mutation_p.A403V	p.A395V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1330	-		Renal(207;0.0474)	385					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.1184C>T	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967122	0.92855	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	0.996;0.996;1.0;0.996	P;P;D;P	0.72982	0.636;0.636;0.979;0.636	D	0.88398	0.3013	9	0.87932	D	0	-16.3013	18.4155	0.90568	0.0:0.0:1.0:0.0	.	403;403;385;395	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	V	395;395;320;403;288	.	ENSP00000273075:A395V	A	-	2	0	DNPEP	219954356	1.000000	0.71417	0.893000	0.35052	0.547000	0.35210	9.516000	0.98017	2.575000	0.86900	0.561000	0.74099	GCG		0.597	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		A	220246112	G	A	220246112	3	1	137	1	0	0	0	0	1	0	0	0	4679	1087	38	1	285	1	DNPEP	2	220246112	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	28944231	220246112	22953261	11	9362											
AGXT	189	broad.mit.edu	37	chr2	241808652	241808652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacccactcacactggtCatctctggctcgggacactg	9	8	10	14	1	3	0	2	0	1	0	5	2	3	2	1	4	1	1	1	4	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:241808652C>T	ENST00000307503.3	+	2	618	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	77					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TCACACTGGTCATCTCTGGCT	0.607																																						uc002waa.4																			0		p.L76M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(229-231)gtC>gtT		Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						156	127	137					2																	241808652		2203	4300	6503	SO:0001819	synonymous_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808652C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.231C>T	2.37:g.241808652C>T						AGXT_uc010zoi.1_Silent_p.V77V	p.V77V	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	352	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	77					Q53QU6	Silent	SNP	ENST00000307503.3	37	c.231C>T	CCDS2543.1																																																																																				0.607	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		T	241808652	C	T	241808652	2	4	137	1	0	0	0	0	0	0	0	1	404	813	29	3		3	AGXT	2	241808652	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08	21562540	241808652	1390721	12	9363											
CNTN6	27255	broad.mit.edu	37	chr3	1415706	1415706	+	Frame_Shift_Del	DEL	G	G	-																															ttgttgccggcaacagcattGggattggagaaccaagtgaa																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:1415706delG	ENST00000446702.2	+	16	2671	c.2044delG	c.(2044-2046)gggfs	p.G682fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.G682fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.G610fs			Q9UQ52	CNTN6_HUMAN	contactin 6	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAACAGCATTGGGATTGGAGA	0.393																																						uc003boz.3																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2044-2046)gggfs		Homo sapiens contactin 6 (CNTN6), mRNA.							134	128	130					3																	1415706		2203	4300	6503	SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415706delG	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2044delG	3.37:g.1415706delG	ENSP00000407822:p.Gly682fs					CNTN6_uc011asj.2_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.G682fs	p.G682fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	15	2311	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	682			Fibronectin type-III 1.		Q2KHM2	Frame_Shift_Del	DEL	ENST00000446702.2	37	c.2044delG	CCDS2557.1																																																																																				0.393	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		-	1415706	G	-	1415706	7	5	137	1	0	1	0	1	0	0	0	0	3645	1348	47	0	2102	0	CNTN6	3	1415706	Frame_Shift_Del	DEL	G	TCGA-14-1395-01B-11D-1845-08		1415706	196606724	13	9364											
SLC9A10	285335	broad.mit.edu	37	chr3	111918295	111918295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtgacagcaatttctGggtgatcatactctaagtag	12	12	9	8	0	4	2	2	2	2	0	4	2	4	2	0	1	2	2	0	1	4	4	rs201824027		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:111918295G>A	ENST00000305815.5	-	20	2648	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P751L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	799					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGCAATTTCTGGGTGATCATA	0.279																																						uc003dyu.3																			0											c.(2395-2397)cCa>cTa		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.		G	LEU/PRO	1,4401		0,1,2200	67	67	67		2396	5.6	1	3		67	1,8593	1.2+/-3.3	0,1,4296	no	missense	SLC9A10	NM_183061.1	98	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	799/1178	111918295	2,12994	2201	4297	6498	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918295G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2396C>T	3.37:g.111918295G>A	ENSP00000306627:p.Pro799Leu					SLC9C1_uc011bhu.2_Missense_Mutation_p.P62L|SLC9C1_uc010hqc.3_Missense_Mutation_p.P751L	p.P799L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			19	2618	-			799					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2396C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530823	0.64860	2.27E-4	1.16E-4	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.84146	-1.76;-1.81	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000032	D	0.91479	0.7310	M	0.70275	2.135	0.51012	D	0.9999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91905	0.5535	10	0.66056	D	0.02	.	14.9925	0.71399	0.0:0.0:1.0:0.0	.	751;799	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	799;751	ENSP00000306627:P799L;ENSP00000420688:P751L	ENSP00000306627:P799L	P	-	2	0	SLC9A10	113400985	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.173000	0.65010	2.605000	0.88082	0.655000	0.94253	CCA		0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		A	111918295	G	A	111918295	3	1	137	1	0	0	0	0	1	0	0	0	14710	1348	47	3	1177	3	SLC9A10	3	111918295	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	110502589	111918295	86104135	14	9365											
LRRC31	79782	broad.mit.edu	37	chr3	169557943	169557943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccattgtccacaatctcGaaaatttgatggtcgaaggc	14	10	8	9	2	1	1	0	1	1	0	4	3	2	1	2	2	1	0	2	2	5	2	rs370737804		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:169557943G>A	ENST00000316428.5	-	9	1543	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	LRRC31_ENST00000264676.5_Nonsense_Mutation_p.R440*|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	496										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCACAATCTCGAAAATTTGAT	0.453																																						uc003fgc.1																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1486-1488)Cga>Tga		Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.		G	stop/ARG	1,3871		0,1,1935	148	136	140		1486	2.6	0	3		140	0,8278		0,0,4139	no	stop-gained	LRRC31	NM_024727.2		0,1,6074	AA,AG,GG		0.0,0.0258,0.0082		496/553	169557943	1,12149	1936	4139	6075	SO:0001587	stop_gained	79782							g.chr3:169557943G>A	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1486C>T	3.37:g.169557943G>A	ENSP00000325978:p.Arg496*					LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	p.R496*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		8	1551	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		496					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Nonsense_Mutation	SNP	ENST00000316428.5	37	c.1486C>T	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339637	0.41398	2.58E-4	0.0	ENSG00000114248	ENST00000316428;ENST00000264676	.	.	.	4.46	2.6	0.31112	.	0.372330	0.27464	N	0.019257	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4902	5.6611	0.17670	0.1548:0.0:0.5711:0.2741	.	.	.	.	X	496;440	.	ENSP00000264676:R440X	R	-	1	2	LRRC31	171040637	0.030000	0.19436	0.000000	0.03702	0.108000	0.19459	2.204000	0.42761	0.314000	0.23086	0.650000	0.86243	CGA		0.453	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		A	169557943	G	A	169557943	4	1	137	1	0	0	0	0	0	1	0	0	8986	1066	37	2	176	2	LRRC31	3	169557943	Nonsense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	57639648	169557943	28464487	15	9366											
CPN2	1370	broad.mit.edu	37	chr3	194061799	194061799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtatgcgctgctactaggGccctgctgcccgagcctcga	5	9	12	15	3	0	0	0	0	0	0	1	2	0	0	3	1	6	4	3	1	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:194061799G>A	ENST00000323830.3	-	2	1722	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	CPN2_ENST00000429275.1_Missense_Mutation_p.P545S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	545					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTACTAGGGCCCTGCTGCC	0.652																																						uc003fts.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1633-1635)Ccc>Tcc		Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.							21	23	22					3																	194061799		2203	4299	6502	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194061799G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1633C>T	3.37:g.194061799G>A	ENSP00000319464:p.Pro545Ser					CPN2_uc021xix.1_Missense_Mutation_p.P545S	p.P545S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	1	1723	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		545					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1633C>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307082	0.60305	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.17	-0.245	0.13027	.	1.017430	0.07907	N	0.973637	T	0.37812	0.1017	L	0.29908	0.895	0.09310	N	1	B	0.26195	0.144	B	0.21917	0.037	T	0.36286	-0.9754	10	0.87932	D	0	.	6.1975	0.20557	0.076:0.3034:0.5028:0.1179	.	545	P22792	CPN2_HUMAN	S	545	ENSP00000319464:P545S;ENSP00000402232:P545S	ENSP00000319464:P545S	P	-	1	0	CPN2	195543494	0.000000	0.05858	0.069000	0.20011	0.056000	0.15407	-0.604000	0.05667	0.056000	0.16144	0.655000	0.94253	CCC		0.652	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194061799	G	A	194061799	3	1	137	1	0	0	0	0	1	0	0	0	3810	1203	42	3	8	3	CPN2	3	194061799	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	24503856	194061799	3960631	16	9367											
ZNF732	654254	broad.mit.edu	37	chr4	265913	265913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtaagatttctctccagTatgaactttatgtttagcaa	11	18	6	6	0	1	2	0	1	1	1	3	2	2	2	1	0	2	4	1	0	6	8			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265913T>G	ENST00000419098.1	-	4	743	c.733A>C	c.(733-735)Act>Cct	p.T245P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTCTCTCCAGTATGAACTTTA	0.363																																						uc021xka.1																			0				endometrium(1)|lung(2)	3						c.(733-735)Act>Cct		Homo sapiens zinc finger protein 732 (ZNF732), mRNA.							70	61	64					4																	265913		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265913T>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.733A>C	4.37:g.265913T>G	ENSP00000415774:p.Thr245Pro					ZNF732_uc011buu.1_Missense_Mutation_p.T213P	p.T245P	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	733	-			245						Missense_Mutation	SNP	ENST00000419098.1	37	c.733A>C	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839840	0.32513	.	.	ENSG00000186777	ENST00000419098	T	0.06218	3.33	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	M	0.77712	2.385	0.27563	N	0.950113	D	0.54601	0.967	D	0.68039	0.955	T	0.04635	-1.0937	9	0.72032	D	0.01	.	5.7317	0.18042	0.0:0.0:0.0:1.0	.	245	B4DXR9	ZN732_HUMAN	P	245	ENSP00000415774:T245P	ENSP00000415774:T245P	T	-	1	0	ZNF732	255913	0.950000	0.32346	0.008000	0.14137	0.007000	0.05969	1.400000	0.34577	0.339000	0.23719	0.329000	0.21502	ACT		0.363	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		G	265913	T	G	265913	3	3	137	1	0	0	0	0	1	0	0	0	18120	1638	57	5	1028	5	ZNF732	4	265913	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08		265913	190888363	17	9368											
ZNF732	654254	broad.mit.edu	37	chr4	265995	265995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagggtttctctccagtAtgaattatctcatattcatt	10	17	7	7	0	3	2	2	2	2	0	6	2	4	2	1	1	0	2	1	1	5	6	rs377745654		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265995A>T	ENST00000419098.1	-	4	661	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TCTCTCCAGTATGAATTATCT	0.348																																						uc021xka.1																			0				endometrium(1)|lung(2)	3						c.(649-651)caT>caA		Homo sapiens zinc finger protein 732 (ZNF732), mRNA.							60	52	54					4																	265995		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265995A>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.651T>A	4.37:g.265995A>T	ENSP00000415774:p.His217Gln					ZNF732_uc011buu.1_Missense_Mutation_p.H185Q	p.H217Q	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	651	-			217						Missense_Mutation	SNP	ENST00000419098.1	37	c.651T>A	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.400597	0.25291	.	.	ENSG00000186777	ENST00000419098	T	0.66995	-0.24	0.937	-0.322	0.12713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81631	0.4863	H	0.95224	3.64	0.29181	N	0.876494	P	0.52577	0.954	P	0.62491	0.903	T	0.71852	-0.4467	9	0.87932	D	0	.	3.7445	0.08542	0.404:0.0:0.596:0.0	.	217	B4DXR9	ZN732_HUMAN	Q	217	ENSP00000415774:H217Q	ENSP00000415774:H217Q	H	-	3	2	ZNF732	255995	0.998000	0.40836	0.118000	0.21660	0.106000	0.19336	0.445000	0.21677	0.333000	0.23563	0.324000	0.21423	CAT		0.348	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	265995	A	T	265995	3	4	137	1	0	0	0	0	1	0	0	0	18120	446	16	5	1110	5	ZNF732	4	265995	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08	82	265995	190888281	18	9369											
UGT2B4	7363	broad.mit.edu	37	chr4	70351001	70351001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagtccaaactaacaGctgctcccttggccttcatg	9	11	9	12	0	1	0	1	0	0	0	3	1	3	1	3	2	4	2	3	2	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70351001G>A	ENST00000305107.6	-	5	1281	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	UGT2B4_ENST00000381096.3_Missense_Mutation_p.A276V|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	412					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAAACTAACAGCTGCTCCCTT	0.423																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1234-1236)gCt>gTt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.																																				SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351001G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1235C>T	4.37:g.70351001G>A	ENSP00000305221:p.Ala412Val					UGT2B4_uc011cap.2_Missense_Mutation_p.A276V|UGT2B4_uc003hel.4_Intron	p.A412V	NM_021139	NP_066962	P06133	UD2B4_HUMAN			4	1282	-			412					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1235C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848735	0.71603	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.68903	-0.36;2.81	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000002	D	0.83695	0.5310	H	0.94385	3.53	0.35041	D	0.759777	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.953	D	0.88941	0.3380	10	0.87932	D	0	.	9.9298	0.41514	0.0:0.0:1.0:0.0	.	276;412	A6NCP7;P06133	.;UD2B4_HUMAN	V	412;276	ENSP00000305221:A412V;ENSP00000370486:A276V	ENSP00000305221:A412V	A	-	2	0	UGT2B4	70385590	1.000000	0.71417	0.055000	0.19348	0.008000	0.06430	4.627000	0.61276	1.425000	0.47237	0.305000	0.20034	GCT		0.423	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		A	70351001	G	A	70351001	3	1	137	1	0	0	0	0	1	0	0	0	16958	971	34	3	359	3	UGT2B4	4	70351001	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	70085006	70351001	120803275	19	9370											
C4orf32	132720	broad.mit.edu	37	chr4	113107978	113107978	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggatgtattttggagaaCgaatagtggaaccagtaata	16	10	11	4	1	0	1	0	0	0	1	0	5	0	3	1	3	2	2	1	3	8	6			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:113107978C>T	ENST00000309733.5	+	2	467	c.283C>T	c.(283-285)Cga>Tga	p.R95*		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	95						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTTGGAGAACGAATAGTGGA	0.413																																						uc003iah.2																			0											c.(283-285)Cga>Tga		Homo sapiens chromosome 4 open reading frame 32 (C4orf32), mRNA.							242	229	234					4																	113107978		2203	4300	6503	SO:0001587	stop_gained	132720					integral to membrane		g.chr4:113107978C>T	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.283C>T	4.37:g.113107978C>T	ENSP00000310182:p.Arg95*					C4orf32_uc003iai.3_Non-coding_Transcript	p.R95*	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	1	467	+		Ovarian(17;0.156)	95					Q49A91|Q4W5C7|Q8TBF9	Nonsense_Mutation	SNP	ENST00000309733.5	37	c.283C>T	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375610	0.95923	.	.	ENSG00000174749	ENST00000309733	.	.	.	5.71	3.85	0.44370	.	0.345720	0.31589	N	0.007398	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9118	13.6692	0.62414	0.4681:0.5319:0.0:0.0	.	.	.	.	X	95	.	ENSP00000310182:R95X	R	+	1	2	C4orf32	113327427	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	2.395000	0.44459	0.599000	0.29845	0.585000	0.79938	CGA		0.413	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		T	113107978	C	T	113107978	4	4	137	1	0	0	0	0	0	1	0	0	2262	528	19	1	289	1	C4orf32	4	113107978	Nonsense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	42756977	113107978	78046298	20	9371											
CEP72	55722	broad.mit.edu	37	chr5	637858	637858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagctcagaaagcaggaaCgggaggaccttgtctcagcc	12	5	13	11	1	2	1	2	0	1	1	3	5	2	4	2	3	4	2	2	3	2	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:637858C>T	ENST00000264935.5	+	7	1221	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	377					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAAGCAGGAACGGGAGGACCT	0.622																																						uc003jbf.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1129-1131)aaC>aaT		Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.							36	33	34					5																	637858		2202	4300	6502	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637858C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1131C>T	5.37:g.637858C>T						CEP72_uc011clz.1_Non-coding_Transcript	p.N377N	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		6	1203	+			377					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1131C>T	CCDS34126.1																																																																																				0.622	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		T	637858	C	T	637858	2	4	137	1	0	0	0	0	0	0	0	1	3260	535	19	1		1	CEP72	5	637858	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		637858	180277402	21	9372											
CDH18	1016	broad.mit.edu	37	chr5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgtaaaccacccgagCgctgtttccataggtagggt	10	10	11	10	2	0	0	0	0	0	0	1	1	1	0	3	2	3	5	3	2	5	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:19721516C>T	ENST00000507958.1	-	7	1573	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_ENST00000382275.1_Missense_Mutation_p.A195T|CDH18_ENST00000511273.1_Missense_Mutation_p.A195T|CDH18_ENST00000506372.1_Missense_Mutation_p.A195T|CDH18_ENST00000274170.4_Missense_Mutation_p.A195T|CDH18_ENST00000502796.1_Missense_Mutation_p.A195T			Q13634	CAD18_HUMAN	cadherin 18, type 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A195T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463																																						uc003jgd.3																			1	Substitution - Missense(1)	p.A195T(2)|p.S194R(1)	ovary(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(583-585)Gct>Act		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							153	136	142					5																	19721516		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721516C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.583G>A	5.37:g.19721516C>T	ENSP00000425093:p.Ala195Thr					CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	1117	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		195			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.583G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694576	0.96793	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78863	-0.2036	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	195;195	B4DHG6;Q13634	.;CAD18_HUMAN	T	195;195;195;195;195;195;141;195	ENSP00000371710:A195T;ENSP00000425093:A195T;ENSP00000274170:A195T;ENSP00000424931:A195T;ENSP00000422138:A195T;ENSP00000427383:A141T;ENSP00000425854:A195T	.	A	-	1	0	CDH18	19757273	1.000000	0.71417	0.900000	0.35374	0.910000	0.53928	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GCT		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19721516	C	T	19721516	3	4	137	1	0	0	0	0	1	0	0	0	3103	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	19083658	19721516	161193744	22	9373											
PCDHB16	57717	broad.mit.edu	37	chr5	140564331	140564331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgatgcctgagggcccctttCcagggcgtctggtggacgta	5	9	15	12	3	1	1	0	1	1	0	2	3	2	2	4	4	1	1	4	4	1	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:140564331C>T	ENST00000361016.2	+	1	3352	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	733					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCCCTTTCCAGGGCGTCT	0.627																																						uc003liv.3																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(2197-2199)Cca>Tca		Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.							77	86	83					5																	140564331		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564331C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2197C>T	5.37:g.140564331C>T	ENSP00000354293:p.Pro733Ser					PCDHB9_uc003liw.1_5'Flank	p.P733S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	3352	+			733					B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.2197C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.067267	0.55539	.	.	ENSG00000196963	ENST00000361016	T	0.53640	0.61	4.08	4.08	0.47627	.	0.000000	0.34067	N	0.004300	T	0.55465	0.1922	M	0.81341	2.54	0.38231	D	0.941025	B	0.29432	0.244	B	0.39562	0.303	T	0.63897	-0.6533	10	0.56958	D	0.05	.	10.7635	0.46279	0.0:0.904:0.0:0.096	.	733	Q9NRJ7	PCDBG_HUMAN	S	733	ENSP00000354293:P733S	ENSP00000354293:P733S	P	+	1	0	PCDHB16	140544515	0.036000	0.19791	0.290000	0.24890	0.024000	0.10985	1.318000	0.33643	1.813000	0.52934	0.479000	0.44913	CCA		0.627	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140564331	C	T	140564331	3	4	137	1	0	0	0	0	1	0	0	0	11541	855	30	3	2199	3	PCDHB16	5	140564331	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	120842815	140564331	40350929	23	9374											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056384	26056385	+	Frame_Shift_Ins	INS	-	-	C																															ctttcgtttgcaccagagtgINScccttgctcaccaggctctt																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:26056384_26056385insC	ENST00000343677.2	-	1	314_315	c.272_273insG	c.(271-273)ggcfs	p.G91fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	91	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCACCAGAGTGCCCTTGCTCAC	0.545																																						uc003nfw.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(271-273)ggcfs		Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.																																				SO:0001589	frameshift_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056384_26056385insC	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.273dupG	6.37:g.26056387_26056387dupC	ENSP00000339566:p.Gly91fs						p.G91fs	NM_005319	NP_005310	P16403	H12_HUMAN			0	315_316	-			91			H15.		A8K4I2	Frame_Shift_Ins	INS	ENST00000343677.2	37	c.272_273insG	CCDS4577.1																																																																																				0.545	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		C	26056385	-	C	26056384	7	5	137	1	0	1	1	0	0	0	0	0	7124	1306	46	0	372	0	HIST1H1C	6	26056384	Frame_Shift_Ins	INS	-	TCGA-14-1395-01B-11D-1845-08		26056384	145058683	24	9375											
GABRR2	2570	broad.mit.edu	37	chr6	89975454	89975454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgtggcgacgcaacGtgaagttaatgtacagacgg	14	7	14	6	4	0	4	0	1	0	3	0	5	0	4	0	2	2	3	0	2	5	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:89975454G>A	ENST00000402938.3	-	7	900	c.767C>T	c.(766-768)aCg>aTg	p.T256M	GABRR2_ENST00000602399.1_Missense_Mutation_p.T281M	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	256					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCGACGCAACGTGAAGTTAAT	0.517																																						uc003pnb.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(841-843)aCg>aTg		Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.							175	140	152					6																	89975454		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975454G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.767C>T	6.37:g.89975454G>A	ENSP00000386029:p.Thr256Met					GABRR2_uc011dzx.1_Missense_Mutation_p.T157M	p.T281M	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	6	850	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	281					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.842C>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515533	0.64634	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70575	-0.4834	8	.	.	.	.	20.1111	0.97911	0.0:0.0:1.0:0.0	.	281	P28476	GBRR2_HUMAN	M	281	.	.	T	-	2	0	GABRR2	90032173	1.000000	0.71417	0.969000	0.41365	0.500000	0.33767	6.597000	0.74118	2.741000	0.93983	0.655000	0.94253	ACG		0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			A	89975454	G	A	89975454	3	1	137	1	0	0	0	0	1	0	0	0	6177	1145	40	1	642	1	GABRR2	6	89975454	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	63919070	89975454	81139613	25	9376											
ZBTB2	57621	broad.mit.edu	37	chr6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggagagtgaagcgccGtccacacaggtggcaggcat	9	5	15	12	3	0	2	0	1	0	1	2	3	2	2	3	4	1	3	3	4	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:151687420G>A	ENST00000325144.4	-	3	921	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557																																						uc003qoh.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(781-783)Cgg>Tgg		Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.							164	139	147					6																	151687420		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687420G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.781C>T	6.37:g.151687420G>A	ENSP00000323183:p.Arg261Trp						p.R261W	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	2	916	-			261					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.781C>T	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402953	0.62288	.	.	ENSG00000181472	ENST00000325144	T	0.55588	0.51	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.094233	0.85682	D	0.000000	T	0.64897	0.2640	L	0.54863	1.705	0.49687	D	0.999816	D	0.89917	1.0	D	0.71184	0.972	T	0.66333	-0.5950	10	0.87932	D	0	-40.9617	19.9759	0.97304	0.0:0.0:1.0:0.0	.	261	Q8N680	ZBTB2_HUMAN	W	261	ENSP00000323183:R261W	ENSP00000323183:R261W	R	-	1	2	ZBTB2	151729113	1.000000	0.71417	0.966000	0.40874	0.943000	0.58893	4.634000	0.61325	2.713000	0.92767	0.655000	0.94253	CGG		0.557	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		A	151687420	G	A	151687420	3	1	137	1	0	0	0	0	1	0	0	0	17525	1144	40	1	767	1	ZBTB2	6	151687420	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	61711966	151687420	19427647	26	9377											
EGFR	1956	broad.mit.edu	37	chr7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtggcaagtcccccAgtgactgctgccacaaccag	8	6	11	16	1	0	1	0	1	0	0	1	1	1	1	5	1	4	3	5	1	2	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(685-687)Agt>Tgt		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66	76	73					7																	55220295		2203	4299	6502	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220295A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.685A>T	7.37:g.55220295A>T	ENSP00000275493:p.Ser229Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.S229C|EGFR_uc003tqi.3_Missense_Mutation_p.S229C|EGFR_uc003tqj.3_Missense_Mutation_p.S229C|EGFR_uc022adm.1_Missense_Mutation_p.S229C|EGFR_uc010kzg.2_Missense_Mutation_p.S184C|EGFR_uc022adn.1_Missense_Mutation_p.S184C|EGFR_uc011kco.2_Missense_Mutation_p.S176C|EGFR_uc003tql.1_Non-coding_Transcript	p.S229C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		229					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.685A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802635	0.90623	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.080531	0.85682	D	0.000000	T	0.66237	0.2769	M	0.83223	2.63	0.46823	D	0.999219	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.997	D;P;D;P;P	0.70935	0.971;0.895;0.96;0.831;0.784	T	0.72020	-0.4416	10	0.72032	D	0.01	.	14.0594	0.64790	1.0:0.0:0.0:0.0	.	184;229;229;229;229	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	184;229;99;229;229;229;229;176;23	ENSP00000415559:S184C;ENSP00000342376:S229C;ENSP00000345973:S229C;ENSP00000413843:S229C;ENSP00000275493:S229C;ENSP00000410031:S229C;ENSP00000395243:S176C	ENSP00000275493:S229C	S	+	1	0	EGFR	55187789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	1.981000	0.57761	0.533000	0.62120	AGT		0.617	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55220295	A	T	55220295	3	4	137	1	0	0	0	0	1	0	0	0	4967	188	7	5	707	5	EGFR	7	55220295	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08		55220295	103918368	27	9378											
MUC17	140453	broad.mit.edu	37	chr7	100677499	100677499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgcctgacagcaccacGccggtagtcagttctgaggc	9	8	12	12	2	2	2	1	2	1	0	2	2	2	2	3	2	2	4	3	2	2	3	rs563806733		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:100677499G>A	ENST00000306151.4	+	3	2866	c.2802G>A	c.(2800-2802)acG>acA	p.T934T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	934	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGCACCACGCCGGTAGTCA	0.512													G|||	1	0.000199681	0	0	5008	,	,		34565	0.001		0	False		,,,				2504	0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2800-2802)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							381	328	346					7																	100677499		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677499G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2802G>A	7.37:g.100677499G>A						MUC17_uc010lho.1_Non-coding_Transcript	p.T934T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	2855	+	Lung NSC(181;0.136)|all_lung(186;0.182)		934			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2802G>A	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677499	G	A	100677499	2	1	137	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100677499	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	45457204	100677499	58461164	28	9379											
OR2F1	26211	broad.mit.edu	37	chr7	143657328	143657328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcacattttcttgcagaaCataaagccatcccattccag	12	11	6	12	0	1	1	0	0	1	1	3	1	3	1	3	1	3	2	3	1	3	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:143657328C>A	ENST00000392899.1	+	1	302	c.265C>A	c.(265-267)Cat>Aat	p.H89N	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	89					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTTGCAGAACATAAAGCCAT	0.512																																						uc003wds.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(265-267)Cat>Aat		Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.							202	191	195					7																	143657328		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657328C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.265C>A	7.37:g.143657328C>A	ENSP00000376633:p.His89Asn						p.H89N	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			0	309	+	Melanoma(164;0.0903)		89					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.265C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	4.478	0.088681	0.08583	.	.	ENSG00000213215	ENST00000392899	T	0.12569	2.67	5.41	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.489563	0.19214	N	0.119845	T	0.06416	0.0165	N	0.03881	-0.34	0.09310	N	1	B	0.30511	0.282	B	0.27076	0.076	T	0.33292	-0.9874	10	0.31617	T	0.26	-6.7634	12.1368	0.53977	0.0:0.9174:0.0:0.0826	.	89	Q13607	OR2F1_HUMAN	N	89	ENSP00000376633:H89N	ENSP00000376633:H89N	H	+	1	0	OR2F1	143288261	0.000000	0.05858	0.007000	0.13788	0.072000	0.16883	-0.124000	0.10595	1.513000	0.48852	0.655000	0.94253	CAT		0.512	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			A	143657328	C	A	143657328	3	1	137	1	0	0	0	0	1	0	0	0	10996	478	17	5	267	5	OR2F1	7	143657328	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	42979829	143657328	15481335	29	9380											
EZH2	2146	broad.mit.edu	37	chr7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggaaagatgctaacccTttttcagctgtatctttctg	10	15	8	8	0	3	1	1	0	2	1	3	3	3	2	1	1	3	3	1	1	4	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:148512600T>C	ENST00000460911.1	-	13	1617	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000320356.2_Missense_Mutation_p.K515R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000483967.1_Missense_Mutation_p.K501R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	510	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0		p.R509G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1528-1530)aAg>aGg		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.							150	144	146					7																	148512600		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148512600T>C		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1529A>G	7.37:g.148512600T>C	ENSP00000419711:p.Lys510Arg					EZH2_uc022aov.1_Missense_Mutation_p.K471R|EZH2_uc011kug.2_Missense_Mutation_p.K501R|EZH2_uc003wfb.2_Missense_Mutation_p.K515R|EZH2_uc003wfc.2_Missense_Mutation_p.K471R|EZH2_uc011kuh.2_Missense_Mutation_p.K501R	p.K510R	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		12	1722	-	Melanoma(164;0.15)		510					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1529A>G	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	27.5	4.839567	0.91117	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94687	-3.44;-3.49;-3.49;-3.48;-3.44;-3.44;-3.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.76494	0.635;0.799;0.992;0.635;0.999	B;P;P;B;D	0.80764	0.347;0.465;0.765;0.347;0.994	D	0.95704	0.8752	10	0.38643	T	0.18	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	501;501;510;471;515	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	501;515;510;471;501;501;501	ENSP00000417062:K501R;ENSP00000320147:K515R;ENSP00000419711:K510R;ENSP00000223193:K471R;ENSP00000443219:K501R;ENSP00000419050:K501R;ENSP00000419856:K501R	ENSP00000320147:K515R	K	-	2	0	EZH2	148143533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.351000	0.79395	2.064000	0.61679	0.533000	0.62120	AAG		0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		C	148512600	T	C	148512600	3	2	137	1	0	0	0	0	1	0	0	0	5334	1609	56	4	743	4	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08	4855272	148512600	10626063	30	9381											
NCOA2	10499	broad.mit.edu	37	chr8	71068332	71068338	+	Frame_Shift_Del	DEL	ATCTTTA	ATCTTTA	-																															gttatttctggtaaaccaatAtctttagtatcatctttatc																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr8:71068332_71068338delATCTTTA	ENST00000452400.2	-	11	2443_2449	c.2262_2268delTAAAGAT	c.(2260-2268)actaaagatfs	p.TKD754fs	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	754					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTAAACCAATATCTTTAGTATCATCTT	0.411			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2260-2268)actaaagatfs		Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.																																				SO:0001589	frameshift_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068332_71068338delATCTTTA	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2262_2268delTAAAGAT	8.37:g.71068332_71068338delATCTTTA	ENSP00000399968:p.Thr754fs						p.T754fs	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		10	2424_2430	-	Breast(64;0.201)		754					Q14CD2	Frame_Shift_Del	DEL	ENST00000452400.2	37	c.2262_2268delTAAAGAT	CCDS47872.1																																																																																				0.411	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			-	71068338	ATCTTTA	-	71068332	7	5	137	1	0	1	0	1	0	0	0	0	10229	446	16	0	2178	0	NCOA2	8	71068332	Frame_Shift_Del	DEL	ATCTTTA	TCGA-14-1395-01B-11D-1845-08		71068332	75295690	31	9382											
FAM75A6	389730	broad.mit.edu	37	chr9	43630642	43630642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacacccatggtgtggaGctgggggcgtttagcgatga	8	9	15	9	2	0	1	0	1	0	0	1	3	1	2	2	4	3	2	2	4	2	2	rs2808959		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:43630642G>A	ENST00000332857.6	-	1	88	c.60C>T	c.(58-60)agC>agT	p.S20S	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	20					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S20S(1)									ATGGTGTGGAGCTGGGGGCGT	0.473																																						uc011lrb.2																			1	Substitution - coding silent(1)	p.S20S(2)	endometrium(1)	breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						c.(58-60)agC>agT		Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.																																				SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43630642G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.60C>T	9.37:g.43630642G>A							p.S20S	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			0	89	-			20						Silent	SNP	ENST00000332857.6	37	c.60C>T	CCDS47973.1																																																																																				0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		A	43630642	G	A	43630642	2	1	137	1	0	0	0	0	0	0	0	1	5622	962	34	3		3	FAM75A6	9	43630642	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08		43630642	97582789	32	9383											
COL5A1	1289	broad.mit.edu	37	chr9	137676834	137676834	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttttctggcttgcaGggggagatcggcccacccgg	4	10	13	14	2	2	1	0	0	2	1	4	2	3	1	3	5	1	2	3	5	0	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:137676834G>T	ENST00000371817.3	+	30	2898		c.e30-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCTTGCAGGGGGAGATCG	0.632																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.e30-1		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							30	37	34					9																	137676834		2202	4300	6502	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137676834G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2485-1G>T	9.37:g.137676834G>T							p.G829_splice	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	30	2867	+		Myeloproliferative disorder(178;0.0341)	829			Triple-helical region.		Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.2485_splice	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642175	0.67244	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7525	0.77997	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136816655	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	8.451000	0.90343	1.999000	0.58509	0.298000	0.19748	.		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron	T	137676834	G	T	137676834	5	4	137	1	0	0	0	0	0	0	1	0	3696	1014	35	5	2602	5	COL5A1	9	137676834	Splice_Site	SNP	G	TCGA-14-1395-01B-11D-1845-08	94046192	137676834	3536597	33	9384											
CUBN	8029	broad.mit.edu	37	chr10	16994307	16994307	+	Frame_Shift_Del	DEL	T	T	-																															cttgaatgatccagctgcagTtctgattgtttggataattg																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:16994307delT	ENST00000377833.4	-	33	5002	c.4937delA	c.(4936-4938)aacfs	p.N1646fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1646	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGCTGCAGTTCTGATTGTT	0.478																																						uc001ioo.3																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(4936-4938)aacfs		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						219	203	208					10																	16994307		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16994307delT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4937delA	10.37:g.16994307delT	ENSP00000367064:p.Asn1646fs						p.N1646fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			32	4989	-			1646			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.4937delA	CCDS7113.1																																																																																				0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		-	16994307	T	-	16994307	7	5	137	1	0	1	0	1	0	0	0	0	4051	1725	60	0	6074	0	CUBN	10	16994307	Frame_Shift_Del	DEL	T	TCGA-14-1395-01B-11D-1845-08		16994307	118540440	34	9385											
PTEN	5728	broad.mit.edu	37	chr10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-																															tattattatagctacctgttAaagaatcatctggattatag																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:89711928delA	ENST00000371953.3	+	6	1903	c.546delA	c.(544-546)ttafs	p.L182fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	182	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)	prostate(16)|central_nervous_system(15)|skin(10)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(544-546)ttafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							144	144	144					10																	89711928		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711928delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.546delA	10.37:g.89711928delA	ENSP00000361021:p.Leu182fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L182fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1578	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	182			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.546delA	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711928	A	-	89711928	7	5	137	1	0	1	0	1	0	0	0	0	12738	359	13	0	568	0	PTEN	10	89711928	Frame_Shift_Del	DEL	A	TCGA-14-1395-01B-11D-1845-08	72717621	89711928	45822819	35	9386											
SORCS3	22986	broad.mit.edu	37	chr10	106960921	106960921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaatattcaagaaacGtaagccaggagctcagtgtg	17	7	11	6	1	2	1	2	0	0	1	2	3	2	3	1	2	3	2	1	2	7	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:106960921G>A	ENST00000369701.3	+	16	2398	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SORCS3_ENST00000369699.4_Missense_Mutation_p.R10H	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	724					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R724H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCAAGAAACGTAAGCCAGGA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)	p.R724H(2)	pancreas(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2170-2172)cGt>cAt		Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.							114	100	104					10																	106960921		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960921G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2171G>A	10.37:g.106960921G>A	ENSP00000358715:p.Arg724His					SORCS3_uc010qqz.1_Non-coding_Transcript	p.R724H	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	15	2398	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	724					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2171G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344654	0.82022	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.53206	0.88;0.63	5.78	5.78	0.91487	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.92412	3.305	0.47862	D	0.999534	D	0.89917	1.0	D	0.69142	0.962	T	0.81448	-0.0928	9	.	.	.	.	18.2021	0.89842	0.0:0.0:1.0:0.0	.	724	Q9UPU3	SORC3_HUMAN	H	724;10	ENSP00000358715:R724H;ENSP00000358713:R10H	.	R	+	2	0	SORCS3	106950911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.700000	0.61803	2.735000	0.93741	0.650000	0.86243	CGT		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	106960921	G	A	106960921	3	1	137	1	0	0	0	0	1	0	0	0	14932	1145	40	1	2233	1	SORCS3	10	106960921	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	17248993	106960921	28573826	36	9387											
OR51G1	79324	broad.mit.edu	37	chr11	4944755	4944755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaagaggtgtacaacgCggggcagatgttcaccaaag	14	6	13	8	2	1	3	1	1	0	2	1	3	1	3	1	3	2	3	1	3	4	2	rs146006146	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:4944755C>T	ENST00000321961.2	-	1	882	c.815G>A	c.(814-816)cGc>cAc	p.R272H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTACAACGCGGGGCAGATG	0.502													C|||	14	0.00279553	0	0	5008	,	,		20843	0.0129		0	False		,,,				2504	0.001					uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(814-816)cGc>cAc		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	199	165	176		815	-5.2	0	11	dbSNP_134	176	0,8596		0,0,4298	yes	missense	OR51G1	NM_001005237.1	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	272/322	4944755	1,12997	2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944755C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.815G>A	11.37:g.4944755C>T	ENSP00000322546:p.Arg272His						p.R272H	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	815	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	272					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.815G>A	CCDS31366.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	0.534	-0.856516	0.02630	2.27E-4	0.0	ENSG00000176879	ENST00000321961	T	0.00145	8.67	4.53	-5.22	0.02806	GPCR, rhodopsin-like superfamily (1);	0.440167	0.16762	N	0.200563	T	0.00039	0.0001	N	0.03084	-0.415	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.21655	-1.0239	10	0.38643	T	0.18	.	8.4042	0.32605	0.1147:0.2438:0.0:0.6415	.	272	Q8NGK1	O51G1_HUMAN	H	272	ENSP00000322546:R272H	ENSP00000322546:R272H	R	-	2	0	OR51G1	4901331	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	-2.634000	0.00869	-0.787000	0.04510	-1.038000	0.02383	CGC		0.502	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		T	4944755	C	T	4944755	3	4	137	1	0	0	0	0	1	0	0	0	11098	768	27	1	152	1	OR51G1	11	4944755	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		4944755	130061761	37	9388											
LPXN	9404	broad.mit.edu	37	chr11	58338166	58338166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcctgaagggtggagcgttCcagttcctccaataaggcat	9	10	12	10	1	0	1	0	1	0	0	4	2	4	2	4	3	1	3	4	3	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:58338166C>T	ENST00000395074.2	-	2	122	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	LPXN_ENST00000528954.1_Missense_Mutation_p.E17K|LPXN_ENST00000528489.1_Nonsense_Mutation_p.W7*	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	12					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGAGCGTTCCAGTTCCTCC	0.433																																						uc001nmw.3																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(34-36)Gaa>Aaa		Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.							82	76	78					11																	58338166		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58338166C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.34G>A	11.37:g.58338166C>T	ENSP00000378512:p.Glu12Lys					LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Missense_Mutation_p.E17K|LPXN_uc010rkk.2_Nonsense_Mutation_p.W7*	p.E12K	NM_004811	NP_004802	O60711	LPXN_HUMAN			1	179	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	12					B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.34G>A	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	37	5.999650	0.97189	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.32272	1.46;1.47	4.93	4.93	0.64822	.	0.086764	0.47852	D	0.000215	T	0.53029	0.1771	M	0.73598	2.24	0.80722	A	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.58736	-0.7584	9	0.33940	T	0.23	.	13.9836	0.64319	0.0:1.0:0.0:0.0	.	17;12	B4DV71;O60711	.;LPXN_HUMAN	K	17;12	ENSP00000431284:E17K;ENSP00000378512:E12K	ENSP00000378512:E12K	E	-	1	0	LPXN	58094742	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.485000	0.53208	2.444000	0.82710	0.455000	0.32223	GAA		0.433	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		T	58338166	C	T	58338166	3	4	137	1	0	0	0	0	1	0	0	0	8929	864	30	3	1158	3	LPXN	11	58338166	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	53393411	58338166	76668350	38	9389											
DAGLA	747	broad.mit.edu	37	chr11	61511463	61511463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgctgcggccaatgaCgaggaggaagaggttggcgg	9	5	18	9	3	0	2	0	1	0	1	0	5	0	4	2	6	2	2	2	6	2	1	rs373392668		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:61511463C>T	ENST00000257215.5	+	20	2747	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	877					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726																																						uc001nsa.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2629-2631)gaC>gaT		Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.							20	26	24					11																	61511463		2166	4227	6393	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511463C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2631C>T	11.37:g.61511463C>T							p.D877D	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	2747	+			877					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2631C>T	CCDS31578.1																																																																																				0.726	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61511463	C	T	61511463	2	4	137	1	0	0	0	0	0	0	0	1	4226	535	19	1		1	DAGLA	11	61511463	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08	3173297	61511463	73495053	39	9390											
TRIM49	57093	broad.mit.edu	37	chr11	89531775	89531775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatatcattgttggcttcTtcatgatgcagagtaatatg	12	15	9	5	0	3	3	2	1	1	2	3	3	3	3	0	1	1	4	0	1	4	7			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89531775T>C	ENST00000329758.1	-	8	1210	c.882A>G	c.(880-882)gaA>gaG	p.E294E	TRIM49_ENST00000532501.2_Silent_p.E217E	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGGCTTCTTCATGATGCA	0.313																																						uc001pdb.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(880-882)gaA>gaG		Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.							29	40	36					11																	89531775		2128	4288	6416	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531775T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.882A>G	11.37:g.89531775T>C							p.E294E	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			7	1211	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	294			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.882A>G	CCDS8287.1																																																																																				0.313	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		C	89531775	T	C	89531775	2	2	137	1	0	0	0	0	0	0	0	1	16521	1606	56	4		4	TRIM49	11	89531775	Silent	SNP	T	TCGA-14-1395-01B-11D-1845-08	28020312	89531775	45474741	40	9391											
BARX2	8538	broad.mit.edu	37	chr11	129306839	129306839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagacggaacagcccacGccccgacagaagaagccccg	13	1	11	16	4	1	3	1	0	0	3	1	6	1	4	5	1	3	0	5	1	3	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:129306839G>A	ENST00000281437.4	+	2	477	c.381G>A	c.(379-381)acG>acA	p.T127T	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	127					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AACAGCCCACGCCCCGACAGA	0.637																																						uc001qfc.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(379-381)acG>acA		Homo sapiens BARX homeobox 2 (BARX2), mRNA.							37	43	41					11																	129306839		2201	4296	6497	SO:0001819	synonymous_variant	8538							g.chr11:129306839G>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.381G>A	11.37:g.129306839G>A							p.T127T	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	1	431	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	127					O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.381G>A	CCDS8481.1																																																																																				0.637	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		A	129306839	G	A	129306839	2	1	137	1	0	0	0	0	0	0	0	1	1316	1074	38	1		1	BARX2	11	129306839	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	39775064	129306839	5699677	41	9392											
SLC38A4	55089	broad.mit.edu	37	chr12	47186771	47186771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctgaatttcctatcccGatgtagctatctggagcact	8	16	7	10	1	2	1	0	1	2	0	4	3	4	2	2	1	2	3	2	1	4	6	rs200652031		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:47186771G>A	ENST00000447411.1	-	2	290	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC38A4_ENST00000266579.4_Silent_p.I28I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	28					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCCTATCCCGATGTAGCTAT	0.438													G|||	1	0.000199681	0	0	5008	,	,		18357	0.001		0	False		,,,				2504	0					uc001rpi.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(82-84)atC>atT		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							248	223	231					12																	47186771		2203	4300	6503	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47186771G>A	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.84C>T	12.37:g.47186771G>A						SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	p.I28I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			2	483	-	Lung SC(27;0.192)|Renal(347;0.236)		28					A8K553	Silent	SNP	ENST00000447411.1	37	c.84C>T	CCDS8750.1																																																																																				0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			A	47186771	G	A	47186771	2	1	137	1	0	0	0	0	0	0	0	1	14606	1048	37	2		2	SLC38A4	12	47186771	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08		47186771	86665124	42	9393											
TRHDE	29953	broad.mit.edu	37	chr12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcataatccatgtagctcGaaatccacatggtcgagacc	12	10	8	11	2	1	1	1	0	0	1	5	3	3	1	3	1	1	2	3	1	3	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:73046870G>A	ENST00000261180.4	+	17	2879	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	928					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353																																						uc001sxa.3																			0		p.A927S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2782-2784)cGa>cAa		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							86	84	85					12																	73046870		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046870G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2783G>A	12.37:g.73046870G>A	ENSP00000261180:p.Arg928Gln						p.R928Q	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			16	2813	+			928					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2783G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048127	0.93740	.	.	ENSG00000072657	ENST00000261180	T	0.05382	3.45	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09975	-1.0650	10	0.22706	T	0.39	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	928	Q9UKU6	TRHDE_HUMAN	Q	928	ENSP00000261180:R928Q	ENSP00000261180:R928Q	R	+	2	0	TRHDE	71333137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.582000	0.87167	0.655000	0.94253	CGA		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	73046870	G	A	73046870	3	1	137	1	0	0	0	0	1	0	0	0	16476	1058	37	2	2849	2	TRHDE	12	73046870	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	25860099	73046870	60805025	43	9394											
SLC5A8	160728	broad.mit.edu	37	chr12	101588904	101588904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgcagaccacccccGttgccactaccgcgccccac	9	5	8	19	3	0	2	0	0	0	2	0	2	0	2	7	0	3	2	7	0	2	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:101588904G>A	ENST00000536262.2	-	4	1064	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACCACCCCCGTTGCCACTAC	0.398																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(505-507)aCg>aTg		Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.							88	78	81					12																	101588904		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588904G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.506C>T	12.37:g.101588904G>A	ENSP00000445340:p.Thr169Met						p.T169M	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			3	896	-			169						Missense_Mutation	SNP	ENST00000536262.2	37	c.506C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224861	0.58668	.	.	ENSG00000256870	ENST00000536262	D	0.87809	-2.3	5.64	5.64	0.86602	.	0.044239	0.85682	D	0.000000	D	0.92254	0.7543	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91939	0.5561	10	0.54805	T	0.06	.	19.6876	0.95986	0.0:0.0:1.0:0.0	.	169	Q8N695	SC5A8_HUMAN	M	169	ENSP00000445340:T169M	ENSP00000445340:T169M	T	-	2	0	SLC5A8	100113035	1.000000	0.71417	0.136000	0.22124	0.142000	0.21351	9.439000	0.97543	2.657000	0.90304	0.585000	0.79938	ACG		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		A	101588904	G	A	101588904	3	1	137	1	0	0	0	0	1	0	0	0	14671	1145	40	1	1374	1	SLC5A8	12	101588904	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	28542034	101588904	32262991	44	9395											
TMEM132D	121256	broad.mit.edu	37	chr12	130185158	130185158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaggagacgtccgcGttgttgatgtggtaggtcac	10	9	16	6	3	1	3	1	1	0	2	2	5	2	4	1	4	0	3	1	4	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:130185158G>A	ENST00000422113.2	-	2	491	c.165C>T	c.(163-165)aaC>aaT	p.N55N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	55					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGACGTCCGCGTTGTTGATGT	0.547																																						uc009zyl.1																			0		p.N55T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(163-165)aaC>aaT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							95	71	79					12																	130185158		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185158G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.165C>T	12.37:g.130185158G>A							p.N55N	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	493	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	55					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.165C>T	CCDS9266.1																																																																																				0.547	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130185158	G	A	130185158	2	1	137	1	0	0	0	0	0	0	0	1	16044	1136	40	1		1	TMEM132D	12	130185158	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	28596254	130185158	3666737	45	9396											
MTUS2	23281	broad.mit.edu	37	chr13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatagcctgcagaccaCgcggagtattcagggaccaa	13	5	11	12	2	1	2	1	0	0	2	1	4	1	4	3	2	2	2	3	2	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr13:29599206C>T	ENST00000431530.3	+	1	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	124						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502																																						uc001usl.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(400-402)aCg>aTg		Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.							98	99	99					13																	29599206		2058	4203	6261	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599206C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.401C>T	13.37:g.29599206C>T	ENSP00000392057:p.Thr134Met						p.T134M	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			0	459	+			124					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.401C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	9.785	1.176368	0.21704	.	.	ENSG00000132938	ENST00000431530	T	0.11930	2.73	5.31	3.58	0.41010	.	0.742004	0.12019	N	0.507126	T	0.07007	0.0178	N	0.08118	0	0.19775	N	0.99996	B	0.27286	0.174	B	0.23574	0.047	T	0.41592	-0.9500	9	.	.	.	.	9.7646	0.40552	0.0:0.8298:0.0:0.1702	.	124	Q5JR59	MTUS2_HUMAN	M	134	ENSP00000392057:T134M	.	T	+	2	0	MTUS2	28497206	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.976000	0.29462	0.614000	0.30107	0.655000	0.94253	ACG		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29599206	C	T	29599206	3	4	137	1	0	0	0	0	1	0	0	0	9966	536	19	1	403	1	MTUS2	13	29599206	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		29599206	85570672	46	9397											
KIF26A	26153	broad.mit.edu	37	chr14	104641823	104641823	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatggctgccagcacccctCgaggcagttctggtccagac	7	7	12	15	2	1	1	0	0	1	1	3	3	2	1	4	3	2	4	4	3	0	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr14:104641823C>T	ENST00000423312.2	+	12	2698	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	KIF26A_ENST00000315264.7_Nonsense_Mutation_p.R761*	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	900					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCCCTCGAGGCAGTTC	0.692																																						uc001yos.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(2698-2700)Cga>Tga		Homo sapiens kinesin family member 26A (KIF26A), mRNA.							10	14	13					14																	104641823		1967	4114	6081	SO:0001587	stop_gained	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104641823C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2698C>T	14.37:g.104641823C>T	ENSP00000388241:p.Arg900*						p.R900*	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	2698	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	900					Q8TAZ7|Q96GK3|Q9UFL3	Nonsense_Mutation	SNP	ENST00000423312.2	37	c.2698C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	41	8.556902	0.98861	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	.	.	.	3.97	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.5496	0.39301	0.0:0.8987:0.0:0.1013	.	.	.	.	X	900;761	.	ENSP00000325452:R761X	R	+	1	2	KIF26A	103711576	0.000000	0.05858	0.025000	0.17156	0.147000	0.21601	-0.096000	0.11059	1.925000	0.55765	0.462000	0.41574	CGA		0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104641823	C	T	104641823	4	4	137	1	0	0	0	0	0	1	0	0	8294	876	31	2	2744	2	KIF26A	14	104641823	Nonsense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		104641823	2707717	47	9398											
CA12	771	broad.mit.edu	37	chr15	63618489	63618489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctccggggacctcaagCgtgggcctcagtctccatct	6	8	13	14	2	4	0	2	0	2	0	6	2	5	2	4	4	2	1	4	4	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:63618489C>T	ENST00000178638.3	-	11	1500	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	CA12_ENST00000560666.1_5'UTR|CA12_ENST00000422263.2_Missense_Mutation_p.A283T|CA12_ENST00000344366.3_Missense_Mutation_p.A343T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	354					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGACCTCAAGCGTGGGCCTCA	0.507																																						uc002amc.3																			0		p.H353H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(1060-1062)Gct>Act		Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	Acetazolamide(DB00819)						110	107	108					15																	63618489		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63618489C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.1060G>A	15.37:g.63618489C>T	ENSP00000178638:p.Ala354Thr					CA12_uc002amd.3_Missense_Mutation_p.A343T|CA12_uc002ame.3_Missense_Mutation_p.A283T	p.A354T	NM_001218	NP_001209	O43570	CAH12_HUMAN			10	1216	-			354					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.1060G>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772907	0.69992	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.77358	-0.33;-0.39;-1.09	5.75	3.71	0.42584	.	0.851251	0.10403	N	0.678867	T	0.71143	0.3305	L	0.60455	1.87	0.23314	N	0.997922	P;P;P	0.46706	0.702;0.883;0.814	B;B;B	0.35899	0.105;0.213;0.148	T	0.63998	-0.6510	10	0.87932	D	0	.	9.8548	0.41079	0.1465:0.6923:0.1612:0.0	.	283;343;354	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	T	354;343;283	ENSP00000178638:A354T;ENSP00000343088:A343T;ENSP00000403028:A283T	ENSP00000178638:A354T	A	-	1	0	CA12	61405542	0.372000	0.25064	0.908000	0.35775	0.692000	0.40212	0.487000	0.22356	1.394000	0.46624	0.655000	0.94253	GCT		0.507	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		T	63618489	C	T	63618489	3	4	137	1	0	0	0	0	1	0	0	0	2513	768	27	1	8	1	CA12	15	63618489	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		63618489	38912903	48	9399											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954612	72954612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcccccatccctggcGcccccagcagtgacctctgt	6	7	9	19	1	1	1	0	1	1	0	2	1	2	1	6	1	2	2	6	1	1	1	rs201791007		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																						uc010uks.1																			1	Substitution - coding silent(1)	p.A289A(2)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(865-867)gcG>gcA		Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.							32	31	32					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889							g.chr15:72954612G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A						DQ588973_uc021spx.1_5'Flank	p.A289A	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			10	908	+			289					A8MYY7	Silent	SNP	ENST00000421285.3	37	c.867G>A	CCDS10245.2																																																																																				0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		A	72954612	G	A	72954612	2	1	137	1	0	0	0	0	0	0	0	1	6558	1074	38	1		1	GOLGA6B	15	72954612	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	9336123	72954612	29576780	49	9400											
C16orf61	56942	broad.mit.edu	37	chr16	81015432	81015432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcttcaggcattttctCaactcccgatcaacatcatt	10	15	3	13	1	6	0	5	0	2	0	8	1	7	0	1	1	2	1	1	1	2	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr16:81015432C>T	ENST00000219400.3	-	3	547	c.132G>A	c.(130-132)ttG>ttA	p.L44L	CMC2_ENST00000565914.1_Silent_p.L44L|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000565108.1_Intron|CMC2_ENST00000565925.1_Silent_p.L44L|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000564249.1_Silent_p.L44L|CMC2_ENST00000570195.1_Silent_p.L63L|CMC2_ENST00000562713.1_Silent_p.L44L|CMC2_ENST00000566231.1_5'UTR	NM_020188.3	NP_064573.1	Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2	44						mitochondrion (GO:0005739)											GGCATTTTCTCAACTCCCGAT	0.323																																						uc002ffu.3																			0											c.(130-132)ttG>ttA		Homo sapiens chromosome 16 open reading frame 61 (C16orf61), mRNA.							92	85	87					16																	81015432		2203	4299	6502	SO:0001819	synonymous_variant	56942							g.chr16:81015432C>T	BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 61", "COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000219400.3:c.132G>A	16.37:g.81015432C>T							p.L44L	NM_020188	NP_064573	Q9NRP2	CP061_HUMAN			2	331	-			44					D3DUK6	Silent	SNP	ENST00000219400.3	37	c.132G>A	CCDS10930.1																																																																																				0.323	CMC2-001	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269047.1	NM_020188		T	81015432	C	T	81015432	2	4	137	1	0	0	0	0	0	0	0	1	1824	825	29	3		3	C16orf61	16	81015432	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		81015432	9339321	50	9401											
AURKB	9212	broad.mit.edu	37	chr17	8108652	8108652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttctcattgtgcatgCgcccctcaatcatctctggg	6	12	7	16	1	4	0	3	0	2	0	6	0	4	0	4	1	2	1	4	1	1	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:8108652C>T	ENST00000585124.1	-	8	836	c.743G>A	c.(742-744)cGc>cAc	p.R248H	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.R207H|AURKB_ENST00000578549.1_Missense_Mutation_p.R216H|AURKB_ENST00000316199.6_Missense_Mutation_p.R249H	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						ATTGTGCATGCGCCCCTCAAT	0.572																																					NSCLC(134;1161 2470 43664 51568)	uc002gkn.3																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(745-747)cGc>cAc		Homo sapiens aurora kinase B (AURKB), mRNA.							152	120	131					17																	8108652		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8108652C>T	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.743G>A	17.37:g.8108652C>T	ENSP00000463999:p.Arg248His					AURKB_uc021tpy.1_Missense_Mutation_p.R216H|AURKB_uc010cnu.3_Missense_Mutation_p.R68H|AURKB_uc002gkm.3_Missense_Mutation_p.R248H|AURKB_uc010vuu.2_Missense_Mutation_p.R207H|AURKB_uc002gko.3_Non-coding_Transcript	p.R249H	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN			7	807	-			248	MH -> ID (in Ref. 3; BAA82709).		Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.746G>A	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617786	0.46736	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.66815	-0.23	5.4	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.324791	0.36234	N	0.002716	T	0.48409	0.1498	N	0.21142	0.635	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.04013	0.001;0.001	T	0.45862	-0.9232	10	0.49607	T	0.09	-22.2238	6.6301	0.22851	0.1794:0.7335:0.0:0.0871	.	248;248	C7G533;Q96GD4	.;AURKB_HUMAN	H	248;207	ENSP00000443869:R207H	ENSP00000313950:R248H	R	-	2	0	AURKB	8049377	0.122000	0.22280	0.932000	0.37286	0.833000	0.47200	1.234000	0.32660	1.482000	0.48325	0.650000	0.86243	CGC		0.572	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		T	8108652	C	T	8108652	3	4	137	1	0	0	0	0	1	0	0	0	1223	768	27	1	299	1	AURKB	17	8108652	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		8108652	73086558	51	9402											
KRT20	54474	broad.mit.edu	37	chr17	39041110	39041110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgaccagccctcggggCgttggtttcgtaccactgct	4	10	13	14	5	0	0	0	0	0	0	3	1	0	0	3	3	3	4	3	3	1	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:39041110C>T	ENST00000167588.3	-	1	369	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	110	Linker 1.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCCCTCGGGGCGTTGGTTTCG	0.498																																						uc002hvl.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(328-330)Gcc>Acc		Homo sapiens keratin 20 (KRT20), mRNA.							101	94	96					17																	39041110		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041110C>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.328G>A	17.37:g.39041110C>T	ENSP00000167588:p.Ala110Thr						p.A110T	NM_019010	NP_061883	P35900	K1C20_HUMAN			0	386	-		Breast(137;0.000301)|Ovarian(249;0.15)	110			Linker 1.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.328G>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793746	0.16327	.	.	ENSG00000171431	ENST00000167588	D	0.88586	-2.4	5.65	-4.41	0.03590	Filament (1);	0.628472	0.14977	N	0.287477	T	0.66406	0.2786	N	0.10629	0.01	0.09310	N	1	B	0.26081	0.141	B	0.17979	0.02	T	0.59467	-0.7449	10	0.20046	T	0.44	.	1.562	0.02596	0.3881:0.1535:0.0874:0.371	.	110	P35900	K1C20_HUMAN	T	110	ENSP00000167588:A110T	ENSP00000167588:A110T	A	-	1	0	KRT20	36294636	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.240000	0.01197	-0.508000	0.06540	-0.136000	0.14681	GCC		0.498	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			T	39041110	C	T	39041110	3	4	137	1	0	0	0	0	1	0	0	0	8458	768	27	1	978	1	KRT20	17	39041110	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	30932458	39041110	42154100	52	9403											
PLEKHH3	79990	broad.mit.edu	37	chr17	40823101	40823101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgtacagcgcgaatgcGttgcggctccgggccaagcc	6	7	14	14	6	0	0	0	0	0	0	2	1	1	0	3	2	6	4	3	2	3	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:40823101G>A	ENST00000591022.1	-	9	1719	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	PLEKHH3_ENST00000412503.1_Silent_p.N444N|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Silent_p.N444N	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	444	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCGAATGCGTTGCGGCTCC	0.657																																						uc002iau.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1330-1332)aaC>aaT		Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.							22	28	26					17																	40823101		2171	4256	6427	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40823101G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1332C>T	17.37:g.40823101G>A						PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Silent_p.N444N	p.N444N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	8	1799	-		Breast(137;0.00116)	444			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1332C>T	CCDS11434.1																																																																																				0.657	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		A	40823101	G	A	40823101	2	1	137	1	0	0	0	0	0	0	0	1	12078	1136	40	1		1	PLEKHH3	17	40823101	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	1781991	40823101	40372109	53	9404											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260326	44260326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagtagacagcttgcggCgattcgaagtcgtccagcac	11	8	12	10	4	0	1	0	0	0	1	3	3	1	1	1	1	3	4	1	1	4	4	rs370410407		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr18:44260326C>T	ENST00000315087.7	-	7	1470	c.810G>A	c.(808-810)tcG>tcA	p.S270S	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.S239S|ST8SIA5_ENST00000538168.1_Silent_p.S306S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	270					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCTTGCGGCGATTCGAAGT	0.617													C|||	1	0.000199681	0	0	5008	,	,		20356	0		0	False		,,,				2504	0.001					uc010xcy.1																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(916-918)tcG>tcA		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.							125	76	93					18																	44260326		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260326C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.810G>A	18.37:g.44260326C>T						ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc002lcj.1_Silent_p.S270S|ST8SIA5_uc010xcz.1_Silent_p.S239S	p.S306S	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1486	-			270					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.918G>A	CCDS11930.1																																																																																				0.617	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		T	44260326	C	T	44260326	2	4	137	1	0	0	0	0	0	0	0	1	15234	755	27	1		1	ST8SIA5	18	44260326	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		44260326	33816922	54	9405											
HOOK2	29911	broad.mit.edu	37	chr19	12874555	12874555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagttctggaggtgcccccGcagctggccgctgcttgggt	3	9	17	12	2	1	0	0	0	1	0	1	2	1	2	3	5	3	5	3	5	0	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:12874555G>A	ENST00000397668.3	-	21	1938	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	HOOK2_ENST00000264827.5_Missense_Mutation_p.A620V|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	622	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGGTGCCCCCGCAGCTGGCCG	0.602																																						uc002muy.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1864-1866)gCg>gTg		Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.							52	61	58					19																	12874555		2165	4271	6436	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12874555G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1865C>T	19.37:g.12874555G>A	ENSP00000380785:p.Ala622Val					HOOK2_uc002muz.2_Missense_Mutation_p.A620V	p.A622V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			20	2036	-			622			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1865C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155340	0.38021	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.81;1.8	5.72	-11.4	0.00090	.	2.486070	0.01503	N	0.017574	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.25047	-1.0143	10	0.46703	T	0.11	-3.9105	1.6276	0.02726	0.3976:0.1097:0.306:0.1867	.	620;622	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	V	622;620	ENSP00000380785:A622V;ENSP00000264827:A620V	ENSP00000264827:A620V	A	-	2	0	HOOK2	12735555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.034000	0.03567	-3.132000	0.00236	-1.956000	0.00482	GCG		0.602	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12874555	G	A	12874555	3	1	137	1	0	0	0	0	1	0	0	0	7283	1087	38	1	306	1	HOOK2	19	12874555	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		12874555	46254428	55	9406											
MAST3	23031	broad.mit.edu	37	chr19	18255858	18255858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccccctttccccgcgctCtctgtcctcgaacccgtcgt	3	10	8	20	5	1	0	0	0	1	0	6	2	3	0	6	0	2	1	6	0	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:18255858C>G	ENST00000262811.6	+	23	2771	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	924	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCCCGCGCTCTCTGTCCTCG	0.692																																						uc002nhz.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2770-2772)tCt>tGt		Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.							34	40	38					19																	18255858		1939	4127	6066	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255858C>G	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2771C>G	19.37:g.18255858C>G	ENSP00000262811:p.Ser924Cys						p.S924C	NM_015016	NP_055831	O60307	MAST3_HUMAN			22	2771	+			924			Ser-rich.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2771C>G	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216583	0.79352	.	.	ENSG00000099308	ENST00000262811	T	0.70749	-0.51	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	M	0.86268	2.805	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.88351	0.2981	10	0.72032	D	0.01	-9.6281	16.6471	0.85179	0.0:1.0:0.0:0.0	.	924	O60307	MAST3_HUMAN	C	924	ENSP00000262811:S924C	ENSP00000262811:S924C	S	+	2	0	MAST3	18116858	1.000000	0.71417	0.992000	0.48379	0.655000	0.38815	7.742000	0.85008	2.178000	0.69098	0.313000	0.20887	TCT		0.692	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		G	18255858	C	G	18255858	3	3	137	1	0	0	0	0	1	0	0	0	9326	913	32	5	2861	5	MAST3	19	18255858	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	5381303	18255858	40873125	56	9407											
ZNF569	148266	broad.mit.edu	37	chr19	37903536	37903536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggtgtctaacaaggtgcGacttttggctgaaagccttg	8	13	12	8	1	2	1	0	1	2	0	2	2	2	1	1	3	3	1	1	3	3	4	rs545354210		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:37903536G>A	ENST00000316950.6	-	6	2581	c.2024C>T	c.(2023-2025)tCg>tTg	p.S675L	ZNF569_ENST00000392149.2_Missense_Mutation_p.S675L|ZNF569_ENST00000392150.2_Missense_Mutation_p.S516L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACAAGGTGCGACTTTTGGCT	0.413													G|||	1	0.000199681	0	0	5008	,	,		19832	0.001		0	False		,,,				2504	0					uc002ogj.3																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2095-2097)tCg>tTg		Homo sapiens zinc finger protein 569 (ZNF569), mRNA.							115	117	116					19																	37903536		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903536G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.2024C>T	19.37:g.37903536G>A	ENSP00000325018:p.Ser675Leu					ZNF569_uc002ogh.3_Missense_Mutation_p.S516L|ZNF569_uc002ogi.3_Missense_Mutation_p.S675L	p.S699L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	3028	-			675					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.2096C>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372849	0.61624	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.31769	1.48;2.26	3.93	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28376	N	0.015564	T	0.51449	0.1675	M	0.80508	2.5	0.09310	N	1	P;D	0.64830	0.922;0.994	B;D	0.64042	0.312;0.921	T	0.37056	-0.9722	10	0.62326	D	0.03	.	11.1036	0.48190	0.1012:0.0:0.8988:0.0	.	516;675	Q17RR6;Q5MCW4	.;ZN569_HUMAN	L	675;331;516	ENSP00000325018:S675L;ENSP00000375993:S516L	ENSP00000325018:S675L	S	-	2	0	ZNF569	42595376	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	1.121000	0.31283	2.181000	0.69327	0.563000	0.77884	TCG		0.413	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		A	37903536	G	A	37903536	3	1	137	1	0	0	0	0	1	0	0	0	17997	1059	37	2	40	2	ZNF569	19	37903536	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	19647678	37903536	21225447	57	9408											
MED29	55588	broad.mit.edu	37	chr19	39883120	39883120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagaccttgatgaaggttgCggcccaaaacttgattcaga	12	10	10	9	1	1	5	1	3	0	2	1	5	1	5	2	2	2	1	2	2	4	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:39883120C>T	ENST00000599213.2	+	2	260	c.233C>T	c.(232-234)gCg>gTg	p.A78V	PAF1_ENST00000221266.7_5'Flank|PAF1_ENST00000221265.3_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.A99V|PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.A78V			Q9NX70	MED29_HUMAN	mediator complex subunit 29	78	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGAAGGTTGCGGCCCAAAAC	0.418																																						uc002olf.3																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(295-297)gCg>gTg		Homo sapiens mediator complex subunit 29 (MED29), mRNA.							127	121	123					19																	39883120		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39883120C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.233C>T	19.37:g.39883120C>T	ENSP00000471802:p.Ala78Val					PAF1_uc002old.3_5'Flank|PAF1_uc010xuv.2_5'Flank|PAF1_uc002ole.1_5'Flank|MED29_uc010xux.2_Intron	p.A99V	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		1	333	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		78					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.296C>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.825681	0.90955	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.74647	2.275	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.968	T	0.81315	-0.0988	9	0.87932	D	0	0.5328	14.5626	0.68151	0.0:1.0:0.0:0.0	.	78;99	Q9NX70;B4DUA7	MED29_HUMAN;.	V	99;17	.	ENSP00000314343:A99V	A	+	2	0	MED29	44574960	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	6.014000	0.70784	2.273000	0.75805	0.563000	0.77884	GCG		0.418	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		T	39883120	C	T	39883120	3	4	137	1	0	0	0	0	1	0	0	0	9447	768	27	1	302	1	MED29	19	39883120	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	1979584	39883120	19245863	58	9409											
ZNF229	7772	broad.mit.edu	37	chr19	44932748	44932748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatctgtatggcttctcGccagtgtgcactctcttatg	5	15	10	11	1	3	0	0	0	3	0	5	0	3	0	1	2	1	4	1	2	2	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:44932748G>A	ENST00000588931.1	-	6	2641	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.G730G|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G736G(2)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488																																						uc002oze.1																			2	Substitution - coding silent(2)	p.G736G(4)	lung(2)	breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(2206-2208)ggC>ggT		Homo sapiens zinc finger protein 229 (ZNF229), mRNA.							57	64	61					19																	44932748		2188	4296	6484	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932748G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2208C>T	19.37:g.44932748G>A						ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	p.G736G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	2642	-		Prostate(69;0.0352)	736					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.2208C>T	CCDS42574.1																																																																																				0.488	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		A	44932748	G	A	44932748	2	1	137	1	0	0	0	0	0	0	0	1	17779	1074	38	1		1	ZNF229	19	44932748	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	5049628	44932748	14196235	59	9410											
GRIN2D	2906	broad.mit.edu	37	chr19	48919313	48919313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccatcaacgaggagCgctccgagatcgtggacttc	9	7	10	15	4	2	1	2	0	0	1	5	5	3	3	3	2	2	1	3	2	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:48919313C>T	ENST00000263269.3	+	7	1724	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	546					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAACGAGGAGCGCTCCGAGAT	0.672																																						uc002pjc.4																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1636-1638)Cgc>Tgc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						107	92	97					19																	48919313		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48919313C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1636C>T	19.37:g.48919313C>T	ENSP00000263269:p.Arg546Cys						p.R546C	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	6	1724	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	546						Missense_Mutation	SNP	ENST00000263269.3	37	c.1636C>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	c	17.81	3.479689	0.63849	.	.	ENSG00000105464	ENST00000263269	T	0.70869	-0.52	3.91	1.53	0.23141	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.108403	0.49916	D	0.000137	D	0.87470	0.6185	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89363	0.3669	10	0.87932	D	0	.	10.8661	0.46856	0.4054:0.5945:0.0:0.0	.	546	O15399	NMDE4_HUMAN	C	546	ENSP00000263269:R546C	ENSP00000263269:R546C	R	+	1	0	GRIN2D	53611125	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	0.829000	0.27449	0.982000	0.38575	-0.322000	0.08575	CGC		0.672	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48919313	C	T	48919313	3	4	137	1	0	0	0	0	1	0	0	0	6782	768	27	1	1658	1	GRIN2D	19	48919313	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	3986565	48919313	10209670	60	9411											
ZNF320	162967	broad.mit.edu	37	chr19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcaagatgtgatttgCgactgaaaactttgtcgcat	10	15	9	7	2	2	3	1	2	1	1	3	4	2	3	0	0	2	1	0	0	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53384360C>T	ENST00000595635.1	-	8	1520	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R340H|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428																																						uc002qag.3																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(1018-1020)cGc>cAc		Homo sapiens zinc finger protein 320 (ZNF320), mRNA.							98	92	94					19																	53384360		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384360C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1019G>A	19.37:g.53384360C>T	ENSP00000473091:p.Arg340His					ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.R286H|ZNF320_uc002qai.3_Missense_Mutation_p.R340H	p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	3	1210	-			340					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1019G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	3.706	-0.060511	0.07317	.	.	ENSG00000182986	ENST00000391781	T	0.07327	3.2	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.26042	0.785	0.09310	N	1	P	0.35033	0.481	B	0.27715	0.082	T	0.41998	-0.9477	9	0.13470	T	0.59	.	0.9517	0.01377	0.1657:0.3515:0.1662:0.3166	.	340	A2RRD8	ZN320_HUMAN	H	340	ENSP00000375660:R340H	ENSP00000375660:R340H	R	-	2	0	ZNF320	58076172	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.557000	0.00924	-0.875000	0.04022	0.184000	0.17185	CGC		0.428	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		T	53384360	C	T	53384360	3	4	137	1	0	0	0	0	1	0	0	0	17836	768	27	1	514	1	ZNF320	19	53384360	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	4465047	53384360	5744623	61	9412											
ZNF677	342926	broad.mit.edu	37	chr19	53741592	53741592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgttgatcttttctgtGagtgagatttttgttacagg	7	20	11	3	0	2	3	0	3	2	1	2	4	2	3	0	1	1	3	0	1	1	7			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53741592G>T	ENST00000598513.1	-	5	538	c.388C>A	c.(388-390)Cac>Aac	p.H130N	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.H130N	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTTTCTGTGAGTGAGATTT	0.353																																						uc002qbg.1																			0		p.H130P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(388-390)Cac>Aac		Homo sapiens zinc finger protein 677 (ZNF677), mRNA.							144	138	140					19																	53741592		2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741592G>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.388C>A	19.37:g.53741592G>T	ENSP00000469391:p.His130Asn					ZNF677_uc002qbf.1_Missense_Mutation_p.H130N	p.H130N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	4	539	-			130						Missense_Mutation	SNP	ENST00000598513.1	37	c.388C>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.384831	0.01194	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.06449	3.3	2.29	-4.05	0.03998	.	3.234560	0.01079	N	0.004954	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.16289	0.015	T	0.35076	-0.9803	10	0.26408	T	0.33	.	1.0954	0.01672	0.3344:0.1512:0.361:0.1534	.	130	Q86XU0	ZN677_HUMAN	N	130	ENSP00000334394:H130N	ENSP00000334394:H130N	H	-	1	0	ZNF677	58433404	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-2.552000	0.00927	-1.011000	0.03391	-0.136000	0.14681	CAC		0.353	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		T	53741592	G	T	53741592	3	4	137	1	0	0	0	0	1	0	0	0	18081	1290	45	5	1370	5	ZNF677	19	53741592	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	357232	53741592	5387391	62	9413											
TRPM2	7226	broad.mit.edu	37	chr21	45821664	45821664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatcctctcctacttcGccttcctctgcctgttcgcc	4	14	5	18	2	2	1	0	1	2	0	7	1	4	1	6	0	3	1	6	0	2	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr21:45821664G>A	ENST00000397928.1	+	16	2867	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A788T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A808T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A808T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	808					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTTCGCCTTCCTCTG	0.632																																						uc010gpt.1																			0		p.F807F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2422-2424)Gcc>Acc		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							365	289	315					21																	45821664		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821664G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2422G>A	21.37:g.45821664G>A	ENSP00000381023:p.Ala808Thr					TRPM2_uc002zet.1_Missense_Mutation_p.A808T|TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	p.A808T	NM_003307	NP_003298	O94759	TRPM2_HUMAN			15	2522	+			808					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2422G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272291	0.40194	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	4.61	-0.173	0.13322	.	0.906802	0.09393	N	0.808347	T	0.40743	0.1129	L	0.35542	1.07	0.25321	N	0.989114	B;B;B	0.27286	0.174;0.106;0.106	B;B;B	0.14578	0.011;0.011;0.011	T	0.17899	-1.0354	10	0.16420	T	0.52	-9.7029	3.0604	0.06197	0.2818:0.0:0.3747:0.3435	.	808;594;808	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	808;808;788;808	ENSP00000300482:A808T;ENSP00000381023:A808T;ENSP00000300481:A788T;ENSP00000381026:A808T	ENSP00000300481:A788T	A	+	1	0	TRPM2	44646092	0.003000	0.15002	0.936000	0.37596	0.868000	0.49771	0.396000	0.20867	0.109000	0.17891	0.423000	0.28283	GCC		0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45821664	G	A	45821664	3	1	137	1	0	0	0	0	1	0	0	0	16583	1087	38	1	2484	1	TRPM2	21	45821664	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		45821664	2308231	63	9414											
CABIN1	23523	broad.mit.edu	37	chr22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaagcatgccacgcccGtcttgaactgcttccgtcgg	6	11	11	13	4	1	1	0	1	1	0	3	2	2	2	3	2	4	2	3	2	2	3	rs148592192		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr22:24483514G>A	ENST00000398319.2	+	23	3758	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_ENST00000263119.5_Missense_Mutation_p.V1125I|CABIN1_ENST00000405822.2_Missense_Mutation_p.V1075I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3373-3375)Gtc>Atc		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96	79	85		3373,3223,3373	4.1	0.7	22	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1125/2221,1075/2171,1125/2221	24483514	1,13005	2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483514G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3373G>A	22.37:g.24483514G>A	ENSP00000381364:p.Val1125Ile					CABIN1_uc021wnc.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1125I	p.V1125I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			22	3500	+			1125					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3373G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938576	0.52972	2.27E-4	0.0	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75589	-0.95;-0.95;-0.95	5.1	4.09	0.47781	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.42245	1.32	0.80722	D	1	B;B	0.30793	0.295;0.036	B;B	0.17433	0.018;0.008	T	0.64437	-0.6408	10	0.48119	T	0.1	.	13.0002	0.58670	0.078:0.0:0.922:0.0	.	1075;1125	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1125;1075;1125	ENSP00000263119:V1125I;ENSP00000384694:V1075I;ENSP00000381364:V1125I	ENSP00000263119:V1125I	V	+	1	0	CABIN1	22813514	1.000000	0.71417	0.708000	0.30435	0.331000	0.28603	7.919000	0.87513	1.318000	0.45170	-0.142000	0.14014	GTC		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24483514	G	A	24483514	3	1	137	1	0	0	0	0	1	0	0	0	2528	1145	40	1	3459	1	CABIN1	22	24483514	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		24483514	26821052	64	9415											
MAGEC1	9947	broad.mit.edu	37	chrX	140994696	140994696	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttcccctgagtgtacTcaaagtacttttgagggttt	9	14	10	8	0	1	3	1	2	0	1	2	3	2	3	2	1	2	4	2	1	3	6			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chrX:140994696T>A	ENST00000285879.4	+	4	1792	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	502										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGTGTACTCAAAGTACTT	0.498										HNSCC(15;0.026)																												uc004fbt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1504-1506)acT>acA		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							116	126	123					X																	140994696		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994696T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1506T>A	X.37:g.140994696T>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.T161T	p.T502T	NM_005462	NP_005453	O60732	MAGC1_HUMAN			3	1830	+	Acute lymphoblastic leukemia(192;6.56e-05)		502					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1506T>A	CCDS35417.1																																																																																				0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994696	T	A	140994696	2	1	137	1	0	0	0	0	0	0	0	1	9180	1538	54	5		5	MAGEC1	23	140994696	Silent	SNP	T	TCGA-14-1395-01B-11D-1845-08		140994696	14275864	65	9416											
C8A	731	broad.mit.edu	37	chr1	57333307	57333307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagacgggcagctacacccGcagcagttacctgccagctg	10	6	11	14	2	0	1	0	0	0	1	0	1	0	1	3	1	6	6	3	1	3	3	rs201034819		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:57333307G>A	ENST00000361249.3	+	2	199	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	35					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.A35T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCTACACCCGCAGCAGTTAC	0.468													G|||	1	0.000199681	0	0	5008	,	,		17292	0		0.001	False		,,,				2504	0					uc001cyo.2																			1	Substitution - Missense(1)	p.A35T(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(103-105)Gca>Aca		Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.							74	67	69					1																	57333307		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333307G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.103G>A	1.37:g.57333307G>A	ENSP00000354458:p.Ala35Thr						p.A35T	NM_000562	NP_000553	P07357	CO8A_HUMAN			1	235	+			35					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.103G>A	CCDS606.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.848	0.340618	0.11069	.	.	ENSG00000157131	ENST00000361249	T	0.76186	-1.0	5.09	-8.4	0.00965	.	1.130590	0.06250	N	0.691972	T	0.46639	0.1403	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29852	-0.9998	10	0.12430	T	0.62	1.9357	3.8445	0.08928	0.1647:0.1197:0.4805:0.2351	.	35	P07357	CO8A_HUMAN	T	35	ENSP00000354458:A35T	ENSP00000354458:A35T	A	+	1	0	C8A	57105895	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.907000	0.04067	-0.910000	0.03847	-1.364000	0.01208	GCA		0.468	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		A	57333307	G	A	57333307	3	1	138	1	0	0	0	0	1	0	0	0	2416	1087	38	1	109	1	C8A	1	57333307	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		57333307	191917314	1	9417											
PRCC	5546	broad.mit.edu	37	chr1	156764463	156764463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttttccagtttaagCggctgcagggcaagaggaac	9	13	11	8	1	1	1	0	0	1	1	2	2	2	2	1	3	3	4	1	3	3	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:156764463C>T	ENST00000271526.4	+	5	1458	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	PRCC_ENST00000353233.3_Missense_Mutation_p.R364W	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	396					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTTAAGCGGCTGCAGGG	0.478			T	TFE3	papillary renal																																	uc001fqa.3				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1186-1188)Cgg>Tgg		Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.							46	50	48					1																	156764463		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156764463C>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1186C>T	1.37:g.156764463C>T	ENSP00000271526:p.Arg396Trp						p.R396W	NM_005973	NP_005964	Q92733	PRCC_HUMAN			4	1476	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		396					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1186C>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450292	0.63290	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T;T	0.49432	0.78;0.78;0.78	4.7	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.65573	0.875;0.936	T	0.49390	-0.8945	10	0.72032	D	0.01	-8.4277	11.7919	0.52073	0.0:0.9133:0.0:0.0867	.	364;396	A6NG79;Q92733	.;PRCC_HUMAN	W	396;364;372;103	ENSP00000271526:R396W;ENSP00000339300:R364W;ENSP00000434762:R103W	ENSP00000271526:R396W	R	+	1	2	PRCC	155031087	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.232000	0.51302	1.203000	0.43233	0.563000	0.77884	CGG		0.478	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		T	156764463	C	T	156764463	3	4	138	1	0	0	0	0	1	0	0	0	12447	759	27	1	1204	1	PRCC	1	156764463	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	99431156	156764463	92486158	2	9418											
CACNA1E	777	broad.mit.edu	37	chr1	181689358	181689358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtattgggcttccctaCggaatttggtggtctccttg	5	15	13	8	1	1	0	0	0	1	0	3	1	2	1	2	5	1	3	2	5	4	7			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:181689358C>T	ENST00000367573.2	+	14	1768	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R541W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R541W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R590W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R590W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R197W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R590W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	590					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R590W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTTCCCTACGGAATTTGGT	0.478																																						uc009wxt.3																			2	Substitution - Missense(2)	p.R590W(4)	NS(1)|haematopoietic_and_lymphoid_tissue(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1768-1770)Cgg>Tgg		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							230	214	219					1																	181689358		2006	4164	6170	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689358C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1768C>T	1.37:g.181689358C>T	ENSP00000356545:p.Arg590Trp					CACNA1E_uc001gow.3_Missense_Mutation_p.R590W|CACNA1E_uc009wxs.3_Missense_Mutation_p.R590W	p.R590W	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			13	1963	+			590					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1768C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995927	0.74703	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.15	5.15	0.70609	.	0.097627	0.64402	D	0.000002	D	0.99453	0.9806	H	0.97852	4.09	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98237	1.0486	10	0.87932	D	0	.	13.2677	0.60144	0.2005:0.7994:0.0:0.0	.	590;590	Q15878-2;Q15878-3	.;.	W	590;590;541;541;197;590;590	ENSP00000356542:R590W;ENSP00000434814:R590W;ENSP00000350183:R541W;ENSP00000351101:R541W;ENSP00000356539:R197W;ENSP00000353222:R590W;ENSP00000356545:R590W	ENSP00000350183:R541W	R	+	1	2	CACNA1E	179955981	0.988000	0.35896	0.953000	0.39169	0.962000	0.63368	2.256000	0.43231	2.391000	0.81399	0.563000	0.77884	CGG		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181689358	C	T	181689358	3	4	138	1	0	0	0	0	1	0	0	0	2542	527	19	1	1822	1	CACNA1E	1	181689358	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	24924895	181689358	67561263	3	9419											
PROX1	5629	broad.mit.edu	37	chr1	214170642	214170642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgcgccagctgcaggAaaagttctaccaaatctatg	13	8	9	11	1	2	0	0	0	2	0	2	1	2	1	2	1	5	4	2	1	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:214170642A>G	ENST00000366958.4	+	2	1372	c.764A>G	c.(763-765)gAa>gGa	p.E255G	PROX1_ENST00000435016.1_Missense_Mutation_p.E255G|PROX1_ENST00000261454.4_Missense_Mutation_p.E255G|PROX1_ENST00000498508.2_Missense_Mutation_p.E255G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	255					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCTGCAGGAAAAGTTCTAC	0.532																																						uc001hkh.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(763-765)gAa>gGa		Homo sapiens prospero homeobox 1 (PROX1), mRNA.							47	48	48					1																	214170642		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170642A>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.764A>G	1.37:g.214170642A>G	ENSP00000355925:p.Glu255Gly					PROX1_uc001hkg.1_Missense_Mutation_p.E255G	p.E255G	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	1	1036	+			255					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.764A>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402352	0.62288	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43245	-0.9403	10	0.56958	D	0.05	-5.0095	16.05	0.80749	1.0:0.0:0.0:0.0	.	255	Q92786	PROX1_HUMAN	G	255	ENSP00000420283:E255G;ENSP00000355925:E255G;ENSP00000400694:E255G;ENSP00000261454:E255G	ENSP00000261454:E255G	E	+	2	0	PROX1	212237265	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	GAA		0.532	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		G	214170642	A	G	214170642	3	3	138	1	0	0	0	0	1	0	0	0	12560	246	9	4	766	4	PROX1	1	214170642	Missense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	32481284	214170642	35079979	4	9420											
HEATR5B	54497	broad.mit.edu	37	chr2	37215846	37215846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttttattccttcttgaaCcgctaaaagctctatgttac	11	16	4	10	1	2	1	0	1	2	0	3	1	3	1	2	0	4	3	2	0	7	8			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:37215846C>T	ENST00000233099.5	-	35	5949	c.5854G>A	c.(5854-5856)Gtt>Att	p.V1952I	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V1863I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1952						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCTTCTTGAACCGCTAAAAGC	0.348																																						uc002rpp.1																			0		p.A1951A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5854-5856)Gtt>Att		Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.							75	74	75					2																	37215846		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37215846C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5854G>A	2.37:g.37215846C>T	ENSP00000233099:p.Val1952Ile					HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	p.V1952I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			34	5950	-		all_hematologic(82;0.21)	1952					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5854G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567974	0.65651	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.46819	0.86;0.86	5.27	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.060865	0.64402	N	0.000003	T	0.37705	0.1013	L	0.41236	1.265	0.26765	N	0.96993	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.004	T	0.18053	-1.0349	10	0.14252	T	0.57	-16.0637	14.0986	0.65039	0.0:0.927:0.0:0.073	.	1952;1952	Q9P2D3;B9EK47	HTR5B_HUMAN;.	I	53;1952;1863	ENSP00000233099:V1952I;ENSP00000346531:V1863I	ENSP00000233099:V1952I	V	-	1	0	HEATR5B	37069350	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.796000	0.55507	1.343000	0.45638	0.484000	0.47621	GTT		0.348	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37215846	C	T	37215846	3	4	138	1	0	0	0	0	1	0	0	0	7032	507	18	3	369	3	HEATR5B	2	37215846	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		37215846	205983527	5	9421											
RGPD4	285190	broad.mit.edu	37	chr2	108443529	108443529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgcagggctccgccccGtcgcctcgaaaggtgagtgg	5	7	15	14	5	0	1	0	1	0	0	4	2	2	1	5	3	1	2	5	3	1	0	rs544475701	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:108443529G>A	ENST00000408999.3	+	1	137	c.60G>A	c.(58-60)ccG>ccA	p.P20P	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Silent_p.P20P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	20					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCTCCGCCCCGTCGCCTCGAA	0.711																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(58-60)ccG>ccA		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							41	59	54					2																	108443529		692	1590	2282	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108443529G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.60G>A	2.37:g.108443529G>A						LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank	p.P20P	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			0	142	+			20					B9A029	Silent	SNP	ENST00000408999.3	37	c.60G>A	CCDS46381.1																																																																																				0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108443529	G	A	108443529	2	1	138	1	0	0	0	0	0	0	0	1	13288	1132	40	1		1	RGPD4	2	108443529	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	71227683	108443529	134755844	6	9422											
IL1RN	3557	broad.mit.edu	37	chr2	113890404	113890404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcaccaatatgcctgacGaaggcgtcatggtcaccaaa	12	7	9	13	2	3	1	3	1	0	0	3	2	3	1	4	2	1	0	4	2	4	1	rs188868709		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:113890404G>A	ENST00000409930.3	+	4	554	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	IL1RN_ENST00000361779.3_Missense_Mutation_p.E130K|IL1RN_ENST00000409052.1_Missense_Mutation_p.E130K|IL1RN_ENST00000354115.2_Missense_Mutation_p.E146K|IL1RN_ENST00000259206.5_Missense_Mutation_p.E167K	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	164					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	TATGCCTGACGAAGGCGTCAT	0.592									Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc002tjb.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(490-492)Gaa>Aaa		Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	Anakinra(DB00026)						119	106	110					2																	113890404		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113890404G>A	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.490G>A	2.37:g.113890404G>A	ENSP00000387173:p.Glu164Lys					IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E167K|IL1RN_uc002tiy.3_Missense_Mutation_p.E130K|IL1RN_uc002tja.3_Missense_Mutation_p.E146K	p.E164K	NM_173842	NP_776215	P18510	IL1RA_HUMAN			3	554	+			164					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.490G>A	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792947	0.31685	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.48	2.72	0.32119	.	1.221100	0.05311	N	0.524758	T	0.08044	0.0201	N	0.21097	0.63	0.09310	N	1	B;B;B	0.17667	0.007;0.008;0.023	B;B;B	0.20384	0.006;0.009;0.029	T	0.45041	-0.9288	10	0.26408	T	0.33	-12.2884	11.0565	0.47922	0.1666:0.0:0.8334:0.0	.	164;146;167	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	K	130;130;167;146;164	ENSP00000387210:E130K;ENSP00000354816:E130K;ENSP00000259206:E167K;ENSP00000329072:E146K;ENSP00000387173:E164K	ENSP00000259206:E167K	E	+	1	0	IL1RN	113606875	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.551000	0.23361	0.388000	0.25054	-0.940000	0.02684	GAA		0.592	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		A	113890404	G	A	113890404	3	1	138	1	0	0	0	0	1	0	0	0	7665	1059	37	2	585	2	IL1RN	2	113890404	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	5446875	113890404	129308969	7	9423											
ALPPL2	251	broad.mit.edu	37	chr2	233274348	233274348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacccacgcaggcgaggaCgtggcggtgttcgcgcgcgg	6	4	19	12	8	0	1	0	0	0	1	1	4	0	2	1	5	0	2	1	5	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:233274348C>T	ENST00000295453.3	+	11	1417	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	455					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAGGCGAGGACGTGGCGGTGT	0.662																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1363-1365)gaC>gaT		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						27	29	28					2																	233274348		2196	4300	6496	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274348C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1365C>T	2.37:g.233274348C>T							p.D455D	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1418	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	455					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1365C>T	CCDS2491.1																																																																																				0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233274348	C	T	233274348	2	4	138	1	0	0	0	0	0	0	0	1	549	535	19	1		1	ALPPL2	2	233274348	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	119383944	233274348	9925025	8	9424											
CSN3	1448	broad.mit.edu	37	chr4	71114964	71114964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtacgtcgcccaaacCtgcatccatcatttattgcc	8	12	7	14	2	1	0	1	0	0	0	3	0	2	0	4	1	4	2	4	1	3	4	rs200375927		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:71114964C>A	ENST00000304954.3	+	4	423	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCGCCCAAACCTGCATCCATC	0.468																																						uc003hfe.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(337-339)Ctg>Atg		Homo sapiens casein kappa (CSN3), mRNA.							127	113	118					4																	71114964		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114964C>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.337C>A	4.37:g.71114964C>A	ENSP00000304822:p.Leu113Met						p.L113M	NM_005212	NP_005203	P07498	CASK_HUMAN			3	395	+			113					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.337C>A	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010521	0.19277	.	.	ENSG00000171209	ENST00000304954	T	0.23147	1.92	4.4	-0.322	0.12713	.	1.813730	0.03302	N	0.189179	T	0.31104	0.0786	N	0.24115	0.695	0.09310	N	1	P	0.48998	0.918	P	0.59948	0.866	T	0.17228	-1.0376	10	0.87932	D	0	-5.9213	3.5141	0.07718	0.173:0.4452:0.0:0.3818	.	113	P07498	CASK_HUMAN	M	113	ENSP00000304822:L113M	ENSP00000304822:L113M	L	+	1	2	CSN3	71149553	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.114000	0.03293	-0.104000	0.12154	-0.182000	0.12963	CTG		0.468	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		A	71114964	C	A	71114964	3	1	138	1	0	0	0	0	1	0	0	0	3949	680	24	5	347	5	CSN3	4	71114964	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		71114964	120039312	9	9425											
ANKRD17	26057	broad.mit.edu	37	chr4	73984505	73984505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccacatcgaggtgtccaCcatttgctgctagccacaat	11	9	8	13	1	0	0	0	0	0	0	2	2	1	0	4	1	4	2	4	1	3	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:73984505C>T	ENST00000358602.4	-	22	4204	c.4088G>A	c.(4087-4089)gGt>gAt	p.G1363D	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1250D|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G1112D|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1363					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTGTCCACCATTTGCTGC	0.443																																						uc003hgp.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4087-4089)gGt>gAt		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							192	171	178					4																	73984505		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73984505C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4088G>A	4.37:g.73984505C>T	ENSP00000351416:p.Gly1363Asp					ANKRD17_uc003hgo.3_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.3_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.3_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	p.G1363D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	4205	-	Breast(15;0.000295)		1363					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4088G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119656	0.94385	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.64618	-0.11;-0.11;-0.11	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	T	0.77751	0.4177	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.966;0.999;0.999;1.0;0.967	T	0.78125	-0.2326	10	0.59425	D	0.04	.	19.4703	0.94961	0.0:1.0:0.0:0.0	.	884;1362;1112;1363;1250	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	D	1363;1112;1250	ENSP00000351416:G1363D;ENSP00000332265:G1112D;ENSP00000427151:G1250D	ENSP00000332265:G1112D	G	-	2	0	ANKRD17	74203369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.600000	0.87896	0.561000	0.74099	GGT		0.443	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73984505	C	T	73984505	3	4	138	1	0	0	0	0	1	0	0	0	646	507	18	3	3775	3	ANKRD17	4	73984505	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	2869541	73984505	117169771	10	9426											
ADH1B	125	broad.mit.edu	37	chr4	100239237	100239237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccccttctccaacactCtccacgatgccggctgcctc	6	9	6	20	2	3	0	1	0	2	0	6	1	3	0	6	1	3	1	6	1	1	1	rs548284382		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100239237C>A	ENST00000305046.8	-	3	292	c.225G>T	c.(223-225)gaG>gaT	p.E75D	ADH1B_ENST00000394887.3_Missense_Mutation_p.E35D|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	75					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCCAACACTCTCCACGATGC	0.537																																						uc003hus.4																			0		p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(223-225)gaG>gaT		Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						213	195	201					4																	100239237		2203	4298	6501	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100239237C>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.225G>T	4.37:g.100239237C>A	ENSP00000306606:p.Glu75Asp					ADH1B_uc003hut.4_Missense_Mutation_p.E35D|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	p.E75D	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	2	309	-			75					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.225G>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757874	0.31137	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.05717	3.63;3.4	4.17	2.4	0.29515	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.103651	0.64402	D	0.000005	T	0.13243	0.0321	M	0.77712	2.385	0.58432	D	0.999995	B;B	0.31581	0.329;0.009	B;B	0.38616	0.277;0.12	T	0.01604	-1.1314	10	0.87932	D	0	-13.9799	12.0366	0.53429	0.0:0.7716:0.0:0.2284	.	35;75	A8MYN5;P00325	.;ADH1B_HUMAN	D	75;35;75	ENSP00000306606:E75D;ENSP00000378351:E35D	ENSP00000306606:E75D	E	-	3	2	ADH1B	100458260	0.282000	0.24268	0.995000	0.50966	0.632000	0.37999	-0.351000	0.07711	-0.045000	0.13468	-1.134000	0.01955	GAG		0.537	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		A	100239237	C	A	100239237	3	1	138	1	0	0	0	0	1	0	0	0	308	912	32	5	930	5	ADH1B	4	100239237	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	26254732	100239237	90915039	11	9427											
ADH1C	126	broad.mit.edu	37	chr4	100268197	100268197	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaccccttctcaaacactTtccacgatgccggctgcctc	7	10	6	18	2	2	0	2	0	1	0	5	1	3	0	5	1	3	1	5	1	1	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100268197T>A	ENST00000510055.1	-	0	399				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCAAACACTTTCCACGATGC	0.517																																						uc021xqi.1																			0													Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						210	202	205					4																	100268197		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268197T>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268197T>A								NM_000669		P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	2		-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.310A>T																																																																																					0.517	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		A	100268197	T	A	100268197	1	1	138	0	1	0	0	0	0	0	0	0	309	1838	64	5		5	ADH1C	4	100268197	RNA	SNP	T	TCGA-14-1450-01B-01D-1845-08	28960	100268197	90886079	12	9428											
MMAA	166785	broad.mit.edu	37	chr4	146576356	146576356	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgtgggataaaatgAaagatttccaggacctaatg	16	10	10	5	0	0	3	0	2	0	1	1	5	1	5	2	2	0	0	2	2	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:146576356A>T	ENST00000281317.5	+	7	2237	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.K62*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	343					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATAAAATGAAAGATTTCCA	0.428																																						uc003ikh.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(1027-1029)Aaa>Taa		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						87	88	88					4																	146576356		2203	4300	6503	SO:0001587	stop_gained	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146576356A>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.1027A>T	4.37:g.146576356A>T	ENSP00000281317:p.Lys343*					MMAA_uc010iow.3_Non-coding_Transcript	p.K343*	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			6	1112	+	all_hematologic(180;0.151)		343					B3KX40|Q495G7	Nonsense_Mutation	SNP	ENST00000281317.5	37	c.1027A>T	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	A	47	13.607130	0.99752	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	.	.	.	5.74	4.52	0.55395	.	0.653395	0.17197	N	0.183265	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-12.2338	11.6451	0.51257	0.7174:0.2826:0.0:0.0	.	.	.	.	X	343;343;62	.	ENSP00000281317:K343X	K	+	1	0	MMAA	146795806	0.149000	0.22717	0.982000	0.44146	0.768000	0.43524	0.758000	0.26447	0.961000	0.38030	0.482000	0.46254	AAA		0.428	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			T	146576356	A	T	146576356	4	4	138	1	0	0	0	0	0	1	0	0	9639	247	9	5	1049	5	MMAA	4	146576356	Nonsense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	46308159	146576356	44577920	13	9429											
CCDC110	256309	broad.mit.edu	37	chr4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatccttttcaatgcGcgtgccaaacaccagatttt	12	12	5	12	2	1	1	1	0	0	1	2	1	2	1	4	0	4	0	4	0	4	5	rs376940059		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338																																						uc003ixu.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(331-333)Cgc>Tgc		Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.		G	,CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	136	131	133		,331	0.2	0	4		133	0,8596		0,0,4298	no	intron,missense	CCDC110	NM_001145411.1,NM_152775.3	,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,benign	,111/834	186382220	1,12999	2202	4298	6500	SO:0001583	missense	256309					nucleus		g.chr4:186382220G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.331C>T	4.37:g.186382220G>A	ENSP00000306776:p.Arg111Cys					CCDC110_uc003ixv.4_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	p.R111C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	4	407	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	111					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.331C>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025675	0.19512	2.27E-4	0.0	ENSG00000168491	ENST00000307588;ENST00000510617;ENST00000506876	T;T;T	0.45668	3.26;3.26;0.89	5.95	0.183	0.15082	.	0.491796	0.18486	N	0.139787	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.002;0.001	T	0.13415	-1.0510	10	0.59425	D	0.04	2.0658	5.6362	0.17538	0.3409:0.0:0.5398:0.1193	.	111;111	B4DZA2;Q8TBZ0	.;CC110_HUMAN	C	111	ENSP00000306776:R111C;ENSP00000427246:R111C;ENSP00000425276:R111C	ENSP00000306776:R111C	R	-	1	0	CCDC110	186619214	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	0.324000	0.19610	-0.062000	0.13088	-0.839000	0.03059	CGC		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		A	186382220	G	A	186382220	3	1	138	1	0	0	0	0	1	0	0	0	2747	1087	38	1	2182	1	CCDC110	4	186382220	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	39805864	186382220	4772056	14	9430											
FBN2	2201	broad.mit.edu	37	chr5	127671244	127671244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgggtgtcacagcctccGttcattatcatacattcatc	9	13	6	13	1	4	0	4	0	0	0	6	0	5	0	2	1	2	1	2	1	2	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:127671244G>A	ENST00000508053.1	-	35	4724	c.3750C>T	c.(3748-3750)aaC>aaT	p.N1250N	FBN2_ENST00000262464.4_Silent_p.N1250N|FBN2_ENST00000508989.1_Silent_p.N1217N|FBN2_ENST00000507835.1_Silent_p.N100N			P35556	FBN2_HUMAN	fibrillin 2	1250	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCCTCCGTTCATTATCA	0.438																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3748-3750)aaC>aaT		Homo sapiens fibrillin 2 (FBN2), mRNA.							163	154	157					5																	127671244		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127671244G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3750C>T	5.37:g.127671244G>A						FBN2_uc003kuv.2_Silent_p.N1217N	p.N1250N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	28	4189	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1250			EGF-like 19; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3750C>T	CCDS34222.1																																																																																				0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127671244	G	A	127671244	2	1	138	1	0	0	0	0	0	0	0	1	5703	1136	40	1		1	FBN2	5	127671244	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		127671244	53244016	15	9431											
PCDHA3	56145	broad.mit.edu	37	chr5	140181057	140181057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctcggatagaccGcgaggaactgtgcgggcgga	9	8	16	8	5	1	2	0	1	1	1	2	6	1	5	1	4	2	0	1	4	3	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:140181057G>A	ENST00000522353.2	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R92H	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATAGACCGCGAGGAACTG	0.587																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(274-276)cGc>cAc		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							125	141	136					5																	140181057		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181057G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.275G>A	5.37:g.140181057G>A	ENSP00000429808:p.Arg92His					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R92H	p.R92H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	275	+			107			Cadherin 1.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.275G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324016	0.81580	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.40818	U	0.001002	D	0.84674	0.5524	H	0.99555	4.625	0.41321	D	0.987176	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.957	D	0.92368	0.5903	10	0.87932	D	0	.	17.5661	0.87920	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	92	ENSP00000429808:R92H;ENSP00000434086:R92H	ENSP00000429808:R92H	R	+	2	0	PCDHA3	140161241	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.866000	0.99616	2.228000	0.72767	0.467000	0.42956	CGC		0.587	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140181057	G	A	140181057	3	1	138	1	0	0	0	0	1	0	0	0	11525	1087	38	1	277	1	PCDHA3	5	140181057	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	12509813	140181057	40734203	16	9432											
N4BP3	23138	broad.mit.edu	37	chr5	177547367	177547367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcacagctgctgcaCgccctcagcctagatgaggg	7	5	14	15	2	1	2	1	1	0	1	1	2	1	2	3	2	4	4	3	2	1	1	rs559636054		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:177547367C>T	ENST00000274605.5	+	3	878	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	173						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGCTGCACGCCCTCAGCC	0.711													C|||	1	0.000199681	8e-04	0	5008	,	,		12166	0		0	False		,,,				2504	0					uc003mik.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(517-519)caC>caT		Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.							24	28	27					5																	177547367		2201	4298	6499	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547367C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.519C>T	5.37:g.177547367C>T						N4BP3_uc003mil.1_5'Flank	p.H173H	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	766	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	173					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.519C>T	CCDS34307.1																																																																																				0.711	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		T	177547367	C	T	177547367	2	4	138	1	0	0	0	0	0	0	0	1	10113	535	19	1		1	N4BP3	5	177547367	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	37366310	177547367	3367893	17	9433											
OR2Y1	134083	broad.mit.edu	37	chr5	180166656	180166656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagatgggggtgcatgaTggccatgtagtggagtggac	9	8	19	5	0	0	2	0	1	0	1	0	5	0	4	1	5	1	3	1	5	1	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:180166656T>C	ENST00000307832.2	-	1	443	c.403A>G	c.(403-405)Atc>Gtc	p.I135V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGCATGATGGCCATGTAG	0.587																																						uc003mmf.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(403-405)Atc>Gtc		Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.							65	58	60					5																	180166656		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166656T>C	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.403A>G	5.37:g.180166656T>C	ENSP00000312403:p.Ile135Val						p.I135V	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		0	403	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	135					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.403A>G	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	t	6.174	0.400258	0.11696	.	.	ENSG00000174339	ENST00000307832	T	0.02050	4.48	4.41	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.124821	0.36134	N	0.002773	T	0.02156	0.0067	L	0.35487	1.065	0.24777	N	0.992835	P	0.36412	0.552	B	0.37731	0.257	T	0.44682	-0.9312	10	0.46703	T	0.11	.	6.2994	0.21105	0.1577:0.0:0.1646:0.6777	.	135	Q8NGV0	OR2Y1_HUMAN	V	135	ENSP00000312403:I135V	ENSP00000312403:I135V	I	-	1	0	OR2Y1	180099262	0.127000	0.22367	0.158000	0.22627	0.006000	0.05464	0.423000	0.21313	0.280000	0.22209	-0.732000	0.03574	ATC		0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		C	180166656	T	C	180166656	3	2	138	1	0	0	0	0	1	0	0	0	11035	1464	51	4	536	4	OR2Y1	5	180166656	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	2619289	180166656	748604	18	9434											
PKHD1	5314	broad.mit.edu	37	chr6	51918901	51918901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaccatgttttgaaagccGattgtgaaggacacaatcat	13	13	8	7	1	1	2	1	2	0	0	1	4	1	3	2	1	2	1	2	1	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:51918901G>A	ENST00000371117.3	-	20	2174	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_ENST00000340994.4_Silent_p.I633I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	633					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAAGCCGATTGTGAAGG	0.478																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1897-1899)atC>atT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							162	132	142					6																	51918901		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918901G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1899C>T	6.37:g.51918901G>A						PKHD1_uc003pai.3_Silent_p.I633I	p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			19	2175	-	Lung NSC(77;0.0605)		633					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1899C>T	CCDS4935.1																																																																																				0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51918901	G	A	51918901	2	1	138	1	0	0	0	0	0	0	0	1	11971	1048	37	2		2	PKHD1	6	51918901	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		51918901	119196166	19	9435											
NMBR	4829	broad.mit.edu	37	chr6	142397171	142397171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcacaattttagccaggcGtttccgtgtttccatctgca	9	13	8	11	2	1	0	0	0	1	0	3	0	3	0	3	1	3	4	3	1	3	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:142397171G>A	ENST00000258042.1	-	3	927	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	263					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTAGCCAGGCGTTTCCGTGTT	0.388																																						uc003qiu.3																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(787-789)Cgc>Tgc		Homo sapiens neuromedin B receptor (NMBR), mRNA.							64	56	59					6																	142397171		2203	4299	6502	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397171G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.787C>T	6.37:g.142397171G>A	ENSP00000258042:p.Arg263Cys						p.R263C	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	928	-	Breast(32;0.155)		263					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.787C>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222624	0.79464	.	.	ENSG00000135577	ENST00000258042	T	0.45276	0.9	5.3	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.045522	0.85682	D	0.000000	T	0.68742	0.3034	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80901	-0.1175	10	0.87932	D	0	-8.8299	16.401	0.83641	0.0:0.1318:0.8682:0.0	.	263	P28336	NMBR_HUMAN	C	263	ENSP00000258042:R263C	ENSP00000258042:R263C	R	-	1	0	NMBR	142438864	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.372000	0.73123	1.362000	0.46000	0.655000	0.94253	CGC		0.388	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			A	142397171	G	A	142397171	3	1	138	1	0	0	0	0	1	0	0	0	10487	1145	40	1	389	1	NMBR	6	142397171	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	90478270	142397171	28717896	20	9436											
PPP1R14C	81706	broad.mit.edu	37	chr6	150464589	150464589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcggaagcggctggtgctGgaggaatggatcgtggagca	8	8	18	7	3	0	0	0	0	0	0	2	5	0	5	0	7	3	3	0	7	2	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:150464589G>A	ENST00000361131.4	+	1	378	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	87					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GGCTGGTGCTGGAGGAATGGA	0.637																																					Melanoma(165;1879 1941 2052 16588 48349)	uc003qnt.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(259-261)ctG>ctA		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.							33	35	34					6																	150464589		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464589G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.261G>A	6.37:g.150464589G>A							p.L87L	NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	0	402	+		Ovarian(120;0.0284)	87					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.261G>A	CCDS5226.1																																																																																				0.637	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		A	150464589	G	A	150464589	2	1	138	1	0	0	0	0	0	0	0	1	12361	1335	47	3		3	PPP1R14C	6	150464589	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	8067418	150464589	20650478	21	9437											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067222	18067222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattagactgtcgttgatttCgccacaaccactctgaacga	11	11	7	12	3	1	3	0	2	1	1	3	4	1	3	2	0	2	1	2	0	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:18067222C>T	ENST00000506618.2	-	1	264	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	62					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473																																						uc003stz.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(184-186)Gaa>Aaa		Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.							365	356	359					7																	18067222		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067222C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.184G>A	7.37:g.18067222C>T	ENSP00000424595:p.Glu62Lys						p.E62K	NM_175886	NP_787082	P21108	PRPS3_HUMAN			0	265	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		62					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.184G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525333	0.64747	.	.	ENSG00000229937	ENST00000506618	D	0.91295	-2.82	4.4	2.57	0.30868	.	.	.	.	.	D	0.89022	0.6597	L	0.41710	1.295	.	.	.	P	0.50943	0.94	P	0.52598	0.703	D	0.89152	0.3524	8	0.66056	D	0.02	.	8.0997	0.30850	0.0:0.7503:0.1593:0.0904	.	62	P21108	PRPS3_HUMAN	K	62	ENSP00000424595:E62K	ENSP00000424595:E62K	E	-	1	0	PRPS1L1	18033747	0.999000	0.42202	0.346000	0.25655	0.790000	0.44656	4.173000	0.58249	0.590000	0.29694	0.650000	0.86243	GAA		0.473	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		T	18067222	C	T	18067222	3	4	138	1	0	0	0	0	1	0	0	0	12579	893	31	2	776	2	PRPS1L1	7	18067222	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		18067222	141071441	22	9438											
MLXIPL	51085	broad.mit.edu	37	chr7	73011080	73011080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgtaggggccggggtcgGgggaaggaatgtgcagggga	7	5	24	5	3	0	0	0	0	0	0	1	3	0	3	1	10	1	2	1	10	3	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:73011080G>A	ENST00000313375.3	-	11	1758	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	MLXIPL_ENST00000414749.2_Missense_Mutation_p.P571S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P477S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P571S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P571S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P478S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	571					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCCGGGGTCGGGGGAAGGAAT	0.701																																						uc003tyn.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1711-1713)Ccg>Tcg		Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.							16	21	19					7																	73011080		2160	4260	6420	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73011080G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1711C>T	7.37:g.73011080G>A	ENSP00000320886:p.Pro571Ser					MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.P571S|MLXIPL_uc003tym.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.P477S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P338S	p.P571S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			10	1759	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	571					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1711C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	g	4.290	0.052955	0.08291	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.22134	2.56;2.57;2.57;2.56;1.97;1.97	4.22	3.32	0.38043	.	0.676716	0.13018	N	0.420308	T	0.22859	0.0552	L	0.29908	0.895	0.19300	N	0.999979	D;D;P;P;P;P	0.63046	0.965;0.992;0.629;0.745;0.779;0.779	P;P;B;B;B;B	0.57009	0.461;0.811;0.248;0.431;0.367;0.367	T	0.07404	-1.0774	10	0.13470	T	0.59	-7.657	7.875	0.29589	0.1156:0.0:0.8844:0.0	.	478;478;571;571;571;571	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	S	571;571;571;571;478;477	ENSP00000412330:P571S;ENSP00000406296:P571S;ENSP00000320886:P571S;ENSP00000346629:P571S;ENSP00000378616:P478S;ENSP00000392636:P477S	ENSP00000320886:P571S	P	-	1	0	MLXIPL	72649016	0.268000	0.24133	0.348000	0.25681	0.820000	0.46376	1.328000	0.33758	1.127000	0.42034	0.531000	0.56144	CCG		0.701	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		A	73011080	G	A	73011080	3	1	138	1	0	0	0	0	1	0	0	0	9637	1232	43	3	875	3	MLXIPL	7	73011080	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	54943858	73011080	86127583	23	9439											
DYNC1I1	1780	broad.mit.edu	37	chr7	95616403	95616403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaatctttctttcaatcGtcagttctatgatgaacatt	11	16	5	9	1	5	2	2	2	3	0	6	2	5	2	1	0	2	1	1	0	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:95616403G>A	ENST00000324972.6	+	9	1023	c.830G>A	c.(829-831)cGt>cAt	p.R277H	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R257H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R260H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R240H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R240H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R260H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTTCAATCGTCAGTTCTAT	0.443																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(829-831)cGt>cAt		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							289	282	284					7																	95616403		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95616403G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.830G>A	7.37:g.95616403G>A	ENSP00000320130:p.Arg277His					DYNC1I1_uc003uod.4_Missense_Mutation_p.R260H|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240H|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257H|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266H	p.R277H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	1107	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		277					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.830G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838459	0.91117	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.75050	-0.67;-0.69;-0.9;-0.68;-0.67;-0.67	3.72	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.81614	2.55	0.80722	D	1	D;D;D;D;P	0.57899	0.968;0.981;0.981;0.98;0.926	P;P;P;P;P	0.54924	0.679;0.764;0.764;0.53;0.531	D	0.85312	0.1079	10	0.48119	T	0.1	-20.9596	16.8119	0.85724	0.0:0.0:1.0:0.0	.	260;257;260;277;240	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	260;277;240;257;240;260	ENSP00000392337:R260H;ENSP00000320130:R277H;ENSP00000438377:R240H;ENSP00000398118:R257H;ENSP00000352348:R240H;ENSP00000412444:R260H	ENSP00000320130:R277H	R	+	2	0	DYNC1I1	95454339	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.531000	0.98054	2.361000	0.80049	0.563000	0.77884	CGT		0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95616403	G	A	95616403	3	1	138	1	0	0	0	0	1	0	0	0	4842	1145	40	1	860	1	DYNC1I1	7	95616403	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	22605323	95616403	63522260	24	9440											
CYP3A7	1551	broad.mit.edu	37	chr7	99332692	99332692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagccaggtttccaCggccaagtttgggatgagat	11	8	14	8	1	0	2	0	1	0	2	1	5	1	3	3	4	1	2	3	4	2	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:99332692C>T	ENST00000336374.2	-	1	27	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	9					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGGTTTCCACGGCCAAGTTT	0.498																																						uc003uru.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(25-27)Gtg>Atg		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.							176	147	157					7																	99332692		2203	4300	6503	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99332692C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.25G>A	7.37:g.99332692C>T	ENSP00000337450:p.Val9Met					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Missense_Mutation_p.V9M	p.V9M	NM_000765	NP_000756	P24462	CP3A7_HUMAN			0	128	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		9					A4D288|Q9H241	Translation_Start_Site	SNP	ENST00000336374.2	37	c.25G>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.297943	0.00243	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.02579	4.24	3.49	-6.98	0.01611	.	0.972502	0.08482	N	0.939310	T	0.00936	0.0031	N	0.02158	-0.66	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47182	-0.9137	10	0.22109	T	0.4	.	2.7226	0.05205	0.1314:0.3027:0.3976:0.1683	.	9	P24462	CP3A7_HUMAN	M	9	ENSP00000337450:V9M	ENSP00000292414:V9M	V	-	1	0	CYP3A7	99170628	0.000000	0.05858	0.003000	0.11579	0.205000	0.24178	-1.491000	0.02302	-1.876000	0.01131	-1.291000	0.01355	GTG		0.498	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			T	99332692	C	T	99332692	3	4	138	1	0	0	0	0	1	0	0	0	4181	536	19	1	1538	1	CYP3A7	7	99332692	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	3716289	99332692	59805971	25	9441											
MLL5	55904	broad.mit.edu	37	chr7	104681416	104681416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgagcatagtgatccCattgggggttgatacagcag	10	10	13	8	1	1	3	1	3	0	0	2	3	2	3	1	2	3	3	1	2	2	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:104681416C>T	ENST00000311117.3	+	3	562	c.17C>T	c.(16-18)cCa>cTa	p.P6L	KMT2E_ENST00000476671.1_Missense_Mutation_p.P6L|KMT2E_ENST00000257745.4_Missense_Mutation_p.P6L|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.P6L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	6					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATAGTGATCCCATTGGGGGTT	0.428																																						uc003vcm.3																			0				NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						c.(16-18)cCa>cTa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.							115	106	109					7																	104681416		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104681416C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.17C>T	7.37:g.104681416C>T	ENSP00000312379:p.Pro6Leu					MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.3_Missense_Mutation_p.P6L|MLL5_uc010ljc.3_Missense_Mutation_p.P6L	p.P6L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			2	551	+			6					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.17C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157461	0.78114	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;D;T;D	0.97186	-3.27;-2.74;-3.27;-4.28;1.33;-3.52	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	L	0.50333	1.59	0.80722	D	1	B;D	0.89917	0.297;1.0	B;D	0.83275	0.081;0.996	D	0.99026	1.0819	10	0.87932	D	0	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	6;6	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	L	6	ENSP00000312379:P6L;ENSP00000335599:P6L;ENSP00000257745:P6L;ENSP00000419883:P6L;ENSP00000420415:P6L;ENSP00000417888:P6L	ENSP00000257745:P6L	P	+	2	0	MLL5	104468652	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.575000	0.86900	0.585000	0.79938	CCA		0.428	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			T	104681416	C	T	104681416	3	4	138	1	0	0	0	0	1	0	0	0	9624	594	21	3	19	3	MLL5	7	104681416	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	5348724	104681416	54457247	26	9442											
PRKAR2B	5577	broad.mit.edu	37	chr7	106786905	106786905	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgctctgtggggttTggtgagtaaaatacttattt	7	17	12	5	0	1	1	0	1	1	0	2	1	2	1	1	4	2	3	1	4	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:106786905T>G	ENST00000265717.4	+	6	999	c.740T>G	c.(739-741)tTg>tGg	p.L247W		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTGGGGTTTGGTGAGTAAA	0.398																																						uc003vdx.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.e6+1		Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.							133	115	121					7																	106786905		2203	4300	6503	SO:0001630	splice_region_variant	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106786905T>G		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.741+1T>G	7.37:g.106786905T>G							p.L247_splice	NM_002736	NP_002727	P31323	KAP3_HUMAN			6	916	+			247					A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.741_splice	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032087	0.93575	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.58506	0.33	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91743	0.5406	10	0.87932	D	0	-3.3105	15.7339	0.77827	0.0:0.0:0.0:1.0	.	247	P31323	KAP3_HUMAN	W	247;247;234	ENSP00000265717:L247W	ENSP00000265717:L247W	L	+	2	0	PRKAR2B	106574141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.991000	0.88244	2.134000	0.65973	0.533000	0.62120	TTG		0.398	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		Missense_Mutation	G	106786905	T	G	106786905	5	3	138	1	0	0	0	0	0	0	1	0	12506	1826	63	5	762	5	PRKAR2B	7	106786905	Splice_Site	SNP	T	TCGA-14-1450-01B-01D-1845-08	2105489	106786905	52351758	27	9443											
DNAJB5	25822	broad.mit.edu	37	chr9	34996743	34996743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttccccaaagaaggCgacgccacacctgacaacat	14	5	6	16	2	1	2	1	1	0	1	2	3	2	2	5	1	1	0	5	1	3	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:34996743C>T	ENST00000541010.1	+	2	3705	c.693C>T	c.(691-693)ggC>ggT	p.G231G	DNAJB5_ENST00000312316.5_Silent_p.G231G|DNAJB5_ENST00000453597.3_Silent_p.G345G|DNAJB5_ENST00000454002.2_Silent_p.G303G|DNAJB5_ENST00000545841.1_Silent_p.G231G|DNAJB5_ENST00000335998.3_Silent_p.G265G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	231					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAAAGAAGGCGACGCCACAC	0.562																																						uc011los.2																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(907-909)ggC>ggT		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.							80	69	72					9																	34996743		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996743C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.693C>T	9.37:g.34996743C>T						DNAJB5_uc003zvs.3_Silent_p.G265G|DNAJB5_uc003zvt.3_Silent_p.G231G	p.G303G	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	1270	+			231					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.909C>T	CCDS35007.1																																																																																				0.562	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			T	34996743	C	T	34996743	2	4	138	1	0	0	0	0	0	0	0	1	4623	755	27	1		1	DNAJB5	9	34996743	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		34996743	106216688	28	9444											
OR13C5	138799	broad.mit.edu	37	chr9	107360795	107360795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcctccttcacatccttGtttctaagactgtagattaa	10	15	5	11	0	2	2	1	0	1	2	4	2	4	2	3	0	1	2	3	0	3	6	rs549535238		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:107360795G>T	ENST00000374779.2	-	1	993	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCACATCCTTGTTTCTAAGAC	0.338																																						uc011lvp.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(898-900)aaC>aaA		Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.							102	109	106					9																	107360795		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360795G>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.900C>A	9.37:g.107360795G>T	ENSP00000363911:p.Asn300Lys						p.N300K	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			0	900	-			300					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.900C>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738584	0.69304	.	.	ENSG00000255800	ENST00000374779	T	0.50001	0.76	4.03	-0.843	0.10744	.	0.000000	0.40302	U	0.001131	T	0.73393	0.3581	H	0.99299	4.505	0.09310	N	1	D	0.58970	0.984	P	0.58013	0.831	T	0.67150	-0.5743	10	0.87932	D	0	.	8.2009	0.31424	0.6195:0.0:0.3805:0.0	.	300	Q8NGS8	O13C5_HUMAN	K	300	ENSP00000363911:N300K	ENSP00000363911:N300K	N	-	3	2	OR13C5	106400616	0.129000	0.22400	0.014000	0.15608	0.837000	0.47467	0.062000	0.14389	-0.382000	0.07870	0.423000	0.28283	AAC		0.338	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		T	107360795	G	T	107360795	3	4	138	1	0	0	0	0	1	0	0	0	10937	1368	48	5	58	5	OR13C5	9	107360795	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	72364052	107360795	33852636	29	9445											
C9orf140	89958	broad.mit.edu	37	chr9	139959160	139959160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctgctggctcagggcgCgggcctcaaacagctgctta	6	8	13	14	3	2	0	2	0	0	0	3	0	3	0	2	3	4	4	2	3	2	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:139959160C>T	ENST00000409687.3	-	6	1263	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	RP11-229P13.23_ENST00000456356.2_RNA|RP11-229P13.22_ENST00000435463.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	379						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											GCTCAGGGCGCGGGCCTCAAA	0.647											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011men.2																			0											c.(1135-1137)cGc>cAc		Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.							35	34	34					9																	139959160		2189	4293	6482	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139959160C>T	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"chromosome 9 open reading frame 140"	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1136G>A	9.37:g.139959160C>T	ENSP00000386348:p.Arg379His		OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652		p.R379H	NM_178448	NP_848543	Q86UD0	CI140_HUMAN			5	1252	-			379						Missense_Mutation	SNP	ENST00000409687.3	37	c.1136G>A	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144947	0.77888	.	.	ENSG00000186193	ENST00000409687	T	0.58797	0.31	3.72	3.72	0.42706	.	0.000000	0.64402	D	0.000009	T	0.72795	0.3505	M	0.72894	2.215	0.50813	D	0.999894	D	0.89917	1.0	D	0.79784	0.993	T	0.76708	-0.2860	10	0.72032	D	0.01	-28.1118	13.0146	0.58749	0.0:1.0:0.0:0.0	.	379	Q86UD0	CI140_HUMAN	H	379	ENSP00000386348:R379H	ENSP00000386348:R379H	R	-	2	0	C9orf140	139078981	0.063000	0.20901	0.708000	0.30435	0.579000	0.36224	2.473000	0.45145	1.916000	0.55485	0.313000	0.20887	CGC		0.647	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		T	139959160	C	T	139959160	3	4	138	1	0	0	0	0	1	0	0	0	2460	768	27	1	52	1	C9orf140	9	139959160	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	32598365	139959160	1254271	30	9446											
SH2D4B	387694	broad.mit.edu	37	chr10	82330026	82330026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctctgaggagctgattGcagagagggcgcggctgcag	9	7	17	8	2	1	4	0	2	1	2	2	6	1	5	0	3	3	4	0	3	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:82330026G>T	ENST00000470604.2	+	2	298	c.298G>T	c.(298-300)Gca>Tca	p.A100S	SH2D4B_ENST00000313455.4_Missense_Mutation_p.A52S|SH2D4B_ENST00000339284.2_Missense_Mutation_p.A101S			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	100	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAGCTGATTGCAGAGAGGGC	0.602																																						uc001kck.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(301-303)Gca>Tca		Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.							80	83	82					10																	82330026		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82330026G>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.298G>T	10.37:g.82330026G>T	ENSP00000417953:p.Ala100Ser					SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	p.A101S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		1	731	+			100			Glu-rich.		Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	G	15.93	2.979261	0.53827	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.17528	2.27;2.27;2.27	5.57	4.63	0.57726	.	0.229956	0.36703	N	0.002460	T	0.23133	0.0559	M	0.73962	2.25	0.33408	D	0.578269	B;B	0.22414	0.069;0.005	B;B	0.28139	0.086;0.017	T	0.22417	-1.0217	10	0.52906	T	0.07	-3.8708	10.2636	0.43441	0.1033:0.0:0.8967:0.0	.	52;101	Q5SQS7-3;Q5SQS7-2	.;.	S	101;100;100;52	ENSP00000345295:A101S;ENSP00000417953:A100S;ENSP00000314242:A52S	ENSP00000314242:A52S	A	+	1	0	SH2D4B	82320006	0.994000	0.37717	0.546000	0.28166	0.689000	0.40095	3.902000	0.56310	1.244000	0.43870	0.563000	0.77884	GCA		0.602	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		T	82330026	G	T	82330026	3	4	138	1	0	0	0	0	1	0	0	0	14236	1319	46	5	348	5	SH2D4B	10	82330026	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		82330026	53204721	31	9447											
FAM178A	55719	broad.mit.edu	37	chr10	102710503	102710503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcattctttttcttctgGacaacgggtaggtagtgttt	6	19	9	7	1	4	0	1	0	4	0	5	1	4	1	0	3	1	3	0	3	3	8			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:102710503G>A	ENST00000238961.4	+	17	3865	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	FAM178A_ENST00000370269.3_Missense_Mutation_p.G1108E	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1108						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTTTCTTCTGGACAACGGGTA	0.353																																						uc001krs.3																			0											c.(3322-3324)gGa>gAa		Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.							253	207	223					10																	102710503		2203	4299	6502	SO:0001583	missense	55719							g.chr10:102710503G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3323G>A	10.37:g.102710503G>A	ENSP00000238961:p.Gly1108Glu					FAM178A_uc001krt.4_Missense_Mutation_p.G1108E	p.G1108E	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN			16	3865	+			1108					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.3323G>A	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286899	0.59867	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.27890	1.65;1.64	5.53	3.65	0.41850	.	0.501013	0.21252	N	0.077635	T	0.21103	0.0508	N	0.22421	0.69	0.30985	N	0.722059	P;P	0.46859	0.885;0.885	P;P	0.47981	0.486;0.563	T	0.02126	-1.1209	10	0.08179	T	0.78	-15.9886	8.1814	0.31313	0.1588:0.0:0.8412:0.0	.	1108;1108	Q8IX21;B1AL17	F178A_HUMAN;.	E	1108	ENSP00000238961:G1108E;ENSP00000359292:G1108E	ENSP00000238961:G1108E	G	+	2	0	FAM178A	102700493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.206000	0.42779	2.601000	0.87937	0.650000	0.86243	GGA		0.353	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			A	102710503	G	A	102710503	3	1	138	1	0	0	0	0	1	0	0	0	5503	1174	41	3	3389	3	FAM178A	10	102710503	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	20380477	102710503	32824244	32	9448											
TRIM8	81603	broad.mit.edu	37	chr10	104404874	104404874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccgtgtgccagtactGctgctactacagcggcgcgc	5	8	15	13	4	0	0	0	0	0	0	0	0	0	0	2	3	7	3	2	3	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:104404874G>A	ENST00000302424.7	+	1	622	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	167					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCCAGTACTGCTGCTACTAC	0.667																																						uc001kvz.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(499-501)tGc>tAc		Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.							13	15	14					10																	104404874		1632	3236	4868	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104404874G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.500G>A	10.37:g.104404874G>A	ENSP00000302120:p.Cys167Tyr						p.C167Y	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	0	623	+		Colorectal(252;0.122)	167					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.500G>A	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489648	0.84962	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	D	0.94966	-3.57	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	M	0.93150	3.385	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99364	1.0918	10	0.87932	D	0	.	18.2954	0.90145	0.0:0.0:1.0:0.0	.	167	Q9BZR9	TRIM8_HUMAN	Y	167	ENSP00000302120:C167Y	ENSP00000302120:C167Y	C	+	2	0	TRIM8	104394864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.305000	0.96197	2.320000	0.78422	0.561000	0.74099	TGC		0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		A	104404874	G	A	104404874	3	1	138	1	0	0	0	0	1	0	0	0	16545	1319	46	3	502	3	TRIM8	10	104404874	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	1694371	104404874	31129873	33	9449											
NRAP	4892	broad.mit.edu	37	chr10	115388695	115388695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgaccagctgtccaGccttcttggcttgttccaag	5	12	9	15	1	1	1	0	1	1	0	4	1	3	1	5	1	2	4	5	1	1	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:115388695G>A	ENST00000359988.3	-	20	2370	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	NRAP_ENST00000369360.3_Missense_Mutation_p.A682V|NRAP_ENST00000369358.4_Missense_Mutation_p.A717V|NRAP_ENST00000360478.3_Missense_Mutation_p.A674V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCTGTCCAGCCTTCTTGGC	0.547																																						uc001lal.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2125-2127)gCt>gTt		Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.							127	112	117					10																	115388695		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115388695G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2126C>T	10.37:g.115388695G>A	ENSP00000353078:p.Ala709Val					NRAP_uc009xyb.3_Missense_Mutation_p.A20V|NRAP_uc001laj.3_Missense_Mutation_p.A709V|NRAP_uc001lak.3_Missense_Mutation_p.A674V	p.A709V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2290	-		Colorectal(252;0.0233)|Breast(234;0.188)	709						Missense_Mutation	SNP	ENST00000359988.3	37	c.2126C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904425	0.72868	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.91038	3.17	0.54753	D	0.999985	D;P;P;P	0.76494	0.999;0.855;0.911;0.855	D;P;P;P	0.87578	0.998;0.573;0.821;0.667	T	0.77316	-0.2633	10	0.32370	T	0.25	.	18.4473	0.90690	0.0:0.0:1.0:0.0	.	389;709;674;709	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	V	717;682;709;674;389	ENSP00000358365:A717V;ENSP00000358367:A682V;ENSP00000353078:A709V;ENSP00000353666:A674V	ENSP00000353078:A709V	A	-	2	0	NRAP	115378685	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	6.689000	0.74562	2.451000	0.82905	0.313000	0.20887	GCT		0.547	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115388695	G	A	115388695	3	1	138	1	0	0	0	0	1	0	0	0	10638	971	34	3	3158	3	NRAP	10	115388695	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	10983821	115388695	20146052	34	9450											
GFRA1	2674	broad.mit.edu	37	chr10	117884937	117884937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtggcacttgcggcGgttgcagacatcgttggaca	6	10	15	10	3	0	1	0	0	0	1	1	2	0	2	1	5	2	4	1	5	0	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:117884937G>A	ENST00000355422.6	-	6	1115	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	GFRA1_ENST00000544592.1_Missense_Mutation_p.R68C|GFRA1_ENST00000369236.1_Missense_Mutation_p.R184C|GFRA1_ENST00000439649.3_Missense_Mutation_p.R184C	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	189					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACTTGCGGCGGTTGCAGACA	0.607																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(565-567)Cgc>Tgc		Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.							78	65	69					10																	117884937		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884937G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.565C>T	10.37:g.117884937G>A	ENSP00000347591:p.Arg189Cys					GFRA1_uc001lci.3_Missense_Mutation_p.R184C|GFRA1_uc009xyr.3_Missense_Mutation_p.R184C	p.R189C	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	1263	-		Lung NSC(174;0.21)	189					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.565C>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685557	0.68157	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.65916	-0.18;-0.18	5.85	4.87	0.63330	GDNF/GAS1 (2);	0.102195	0.64402	D	0.000005	T	0.80999	0.4732	M	0.86420	2.815	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.914	D	0.84234	0.0468	10	0.87932	D	0	-27.3413	16.0848	0.81038	0.0:0.0:0.8215:0.1785	.	189;184	P56159;P56159-2	GFRA1_HUMAN;.	C	189;184;184;68;184	ENSP00000358239:R184C;ENSP00000442179:R68C	ENSP00000347591:R184C	R	-	1	0	GFRA1	117874927	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	3.142000	0.50601	2.771000	0.95319	0.561000	0.74099	CGC		0.607	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		A	117884937	G	A	117884937	3	1	138	1	0	0	0	0	1	0	0	0	6347	1116	39	2	856	2	GFRA1	10	117884937	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	2496242	117884937	17649810	35	9451											
MKI67	4288	broad.mit.edu	37	chr10	129905312	129905312	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcctcagtgtgacctcGtgtctggaagagctctttaa	8	14	10	9	1	3	3	1	2	2	1	5	4	4	4	2	1	1	1	2	1	2	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:129905312G>A	ENST00000368654.3	-	13	5167	c.4792C>T	c.(4792-4794)Cga>Tga	p.R1598*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.R1238*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTGACCTCGTGTCTGGAAG	0.488																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4792-4794)Cga>Tga		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							187	182	184					10																	129905312		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905312G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4792C>T	10.37:g.129905312G>A	ENSP00000357643:p.Arg1598*					MKI67_uc001lkf.3_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	p.R1598*	NM_002417	NP_002408	P46013	KI67_HUMAN			12	4987	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1598			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.4792C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	46	12.088975	0.99635	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.07	3.07	0.35406	.	0.251885	0.26349	N	0.024891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.1284	0.59368	0.0:0.0:1.0:0.0	.	.	.	.	X	1598;1238;1597	.	ENSP00000357642:R1238X	R	-	1	2	MKI67	129795302	0.226000	0.23696	0.136000	0.22124	0.054000	0.15201	2.307000	0.43682	2.051000	0.60960	0.563000	0.77884	CGA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129905312	G	A	129905312	4	1	138	1	0	0	0	0	0	1	0	0	9598	1153	40	1	4990	1	MKI67	10	129905312	Nonsense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	12020375	129905312	5629435	36	9452											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195645	18195645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctcctttaggcagcGtcaaaataggcagaacctga	11	8	12	10	2	1	2	1	1	0	1	2	2	2	2	2	3	2	3	2	3	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:18195645G>A	ENST00000314254.3	+	1	1262	c.842G>A	c.(841-843)cGt>cAt	p.R281H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTAGGCAGCGTCAAAATAGG	0.498																																						uc001mnv.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(841-843)cGt>cAt		Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.							88	89	89					11																	18195645		2199	4290	6489	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195645G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.842G>A	11.37:g.18195645G>A	ENSP00000314042:p.Arg281His						p.R281H	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			0	1262	+			281					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.842G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698303	0.15106	.	.	ENSG00000179817	ENST00000314254	T	0.39592	1.07	2.85	-5.7	0.02421	.	0.934257	0.08943	N	0.871317	T	0.35158	0.0922	M	0.79011	2.435	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.21724	-1.0237	10	0.21540	T	0.41	.	5.1213	0.14862	0.3667:0.0:0.4739:0.1594	.	281	Q96LA9	MRGX4_HUMAN	H	281	ENSP00000314042:R281H	ENSP00000314042:R281H	R	+	2	0	MRGPRX4	18152221	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.029000	0.03585	-2.234000	0.00715	-1.179000	0.01719	CGT		0.498	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		A	18195645	G	A	18195645	3	1	138	1	0	0	0	0	1	0	0	0	9769	1145	40	1	844	1	MRGPRX4	11	18195645	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		18195645	116810871	37	9453											
OR5D18	219438	broad.mit.edu	37	chr11	55587380	55587380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgttgtcaaagacagaaCcatttcatttttaggatgcg	11	14	8	8	1	2	2	2	0	0	2	2	3	2	3	2	1	2	1	2	1	3	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:55587380C>A	ENST00000333976.4	+	1	295	c.275C>A	c.(274-276)aCc>aAc	p.T92N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAAGACAGAACCATTTCATTT	0.418																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(274-276)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							226	221	223					11																	55587380		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587380C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.275C>A	11.37:g.55587380C>A	ENSP00000335025:p.Thr92Asn						p.T92N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	275	+		all_epithelial(135;0.208)	92					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.275C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.558863	0.27827	.	.	ENSG00000186119	ENST00000333976	T	0.01804	4.63	4.94	-2.79	0.05841	GPCR, rhodopsin-like superfamily (1);	1.081260	0.07276	N	0.869973	T	0.02888	0.0086	M	0.67700	2.07	0.09310	N	1	B	0.15719	0.014	B	0.20767	0.031	T	0.43572	-0.9383	10	0.59425	D	0.04	-9.886	7.7359	0.28815	0.1118:0.3845:0.4365:0.0672	.	92	Q8NGL1	OR5DI_HUMAN	N	92	ENSP00000335025:T92N	ENSP00000335025:T92N	T	+	2	0	OR5D18	55343956	0.000000	0.05858	0.945000	0.38365	0.864000	0.49448	-4.937000	0.00168	-0.284000	0.09102	-0.162000	0.13425	ACC		0.418	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		A	55587380	C	A	55587380	3	1	138	1	0	0	0	0	1	0	0	0	11157	507	18	5	277	5	OR5D18	11	55587380	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	37391735	55587380	79419136	38	9454											
LRRC55	219527	broad.mit.edu	37	chr11	56949947	56949947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccacaacccctggctgCggagggtgcatccccaggcc	7	5	13	16	1	0	1	0	1	0	0	1	2	1	2	6	4	4	2	6	4	1	0	rs200453430		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:56949947C>T	ENST00000497933.1	+	1	727	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	164					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCTGGCTGCGGAGGGTGCA	0.617													C|||	1	0.000199681	0	0	5008	,	,		18625	0		0.001	False		,,,				2504	0					uc001njl.2																			0		p.R194R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(580-582)Cgg>Tgg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							46	46	46					11																	56949947		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949947C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.580C>T	11.37:g.56949947C>T	ENSP00000419542:p.Arg194Trp						p.R194W	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	727	+			164					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.580C>T	CCDS31539.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.49	3.137128	0.56936	.	.	ENSG00000183908	ENST00000497933	T	0.02579	4.24	5.91	3.87	0.44632	.	0.000000	0.56097	D	0.000029	T	0.10294	0.0252	L	0.53780	1.695	0.35594	D	0.807339	D	0.55172	0.97	D	0.63488	0.915	T	0.02743	-1.1116	10	0.59425	D	0.04	.	14.6917	0.69091	0.212:0.788:0.0:0.0	.	164	Q6ZSA7	LRC55_HUMAN	W	194	ENSP00000419542:R194W	ENSP00000419542:R194W	R	+	1	2	LRRC55	56706523	0.772000	0.28567	1.000000	0.80357	0.986000	0.74619	0.190000	0.17057	2.793000	0.96121	0.655000	0.94253	CGG		0.617	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		T	56949947	C	T	56949947	3	4	138	1	0	0	0	0	1	0	0	0	9011	759	27	1	582	1	LRRC55	11	56949947	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	1362567	56949947	78056569	39	9455											
GLYATL2	219970	broad.mit.edu	37	chr11	58605817	58605817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaaagggtttttatcttTtatgttgaaaatggcgccat	10	17	10	4	1	1	2	0	2	1	0	1	2	1	2	1	2	0	3	1	2	5	7			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:58605817T>C	ENST00000287275.1	-	3	493	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.K35E	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	35						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTTTATCTTTTATGTTGAAA	0.423																																						uc001nnd.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(103-105)Aaa>Gaa		Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	Glycine(DB00145)						97	95	96					11																	58605817		1925	4162	6087	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58605817T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.103A>G	11.37:g.58605817T>C	ENSP00000287275:p.Lys35Glu					GLYATL2_uc009ymq.3_Missense_Mutation_p.K35E	p.K35E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			2	234	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	35					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.103A>G	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041254	0.35989	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14144	2.53;2.53	3.57	3.57	0.40892	Glycine N-acyltransferase, N-terminal (1);	0.453332	0.16803	U	0.198881	T	0.08935	0.0221	L	0.40543	1.245	0.09310	N	1	B	0.31485	0.325	B	0.25140	0.058	T	0.26849	-1.0091	10	0.07990	T	0.79	.	8.6828	0.34218	0.0:0.0:0.0:1.0	.	35	Q8WU03	GLYL2_HUMAN	E	35	ENSP00000287275:K35E;ENSP00000434277:K35E	ENSP00000287275:K35E	K	-	1	0	GLYATL2	58362393	0.004000	0.15560	0.002000	0.10522	0.436000	0.31835	1.217000	0.32455	1.290000	0.44636	0.445000	0.29226	AAA		0.423	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		C	58605817	T	C	58605817	3	2	138	1	0	0	0	0	1	0	0	0	6481	1850	64	4	797	4	GLYATL2	11	58605817	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	1655870	58605817	76400699	40	9456											
C11orf82	220042	broad.mit.edu	37	chr11	82643154	82643154	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacagataatgatgatttTtcagcttcagaacaaagtaa	17	12	6	6	0	2	4	2	2	0	2	2	4	2	4	0	0	3	2	0	0	5	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:82643154T>A	ENST00000533655.1	+	6	986	c.774T>A	c.(772-774)ttT>ttA	p.F258L	C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.F258L|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		258					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGATGATTTTTCAGCTTCAG	0.413																																						uc001ozt.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(772-774)ttT>ttA		Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.							80	82	82					11																	82643154		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643154T>A																												ENST00000533655.1:c.774T>A	11.37:g.82643154T>A	ENSP00000435421:p.Phe258Leu					C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	p.F258L	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			5	1018	+			258					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.774T>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	T	7.393	0.631088	0.14322	.	.	ENSG00000165490	ENST00000430323;ENST00000533655	T;T	0.18502	2.21;2.21	5.8	-1.26	0.09376	.	0.722444	0.13932	N	0.352831	T	0.14787	0.0357	M	0.61703	1.905	0.09310	N	0.999997	B	0.17465	0.022	B	0.14578	0.011	T	0.26360	-1.0105	9	.	.	.	.	6.7666	0.23571	0.0:0.1439:0.356:0.5001	.	258	Q8IXT1	NOXIN_HUMAN	L	258	ENSP00000414687:F258L;ENSP00000435421:F258L	.	F	+	3	2	C11orf82	82320802	0.002000	0.14202	0.841000	0.33234	0.050000	0.14768	0.160000	0.16462	0.087000	0.17167	-0.460000	0.05396	TTT		0.413	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			A	82643154	T	A	82643154	3	1	138	1	0	0	0	0	1	0	0	0	1665	1838	64	5	788	5	C11orf82	11	82643154	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	24037337	82643154	52363362	41	9457											
DDX10	1662	broad.mit.edu	37	chr11	108788719	108788719	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagctctgaagattcagaTagtgaagatatggaaaataa	19	9	10	3	0	2	6	1	2	1	4	2	7	2	7	0	1	1	1	0	1	8	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:108788719T>C	ENST00000322536.3	+	17	2553	c.2424T>C	c.(2422-2424)gaT>gaC	p.D808D	DDX10_ENST00000526794.1_Silent_p.D808D	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	808					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTCAGATAGTGAAGATA	0.343			T	NUP98	AML*																																	uc001pkm.3				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2422-2424)gaT>gaC		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.							95	101	99					11																	108788719		2201	4298	6499	SO:0001819	synonymous_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788719T>C	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2424T>C	11.37:g.108788719T>C						DDX10_uc001pkl.1_Silent_p.D808D	p.D808D	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	16	2489	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	808					B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	c.2424T>C	CCDS8342.1																																																																																				0.343	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		C	108788719	T	C	108788719	2	2	138	1	0	0	0	0	0	0	0	1	4342	1403	49	4		4	DDX10	11	108788719	Silent	SNP	T	TCGA-14-1450-01B-01D-1845-08	26145565	108788719	26217797	42	9458											
FAM55D	54827	broad.mit.edu	37	chr11	114453240	114453240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtgaagatcaccctGtcatagccttggttccttgc	7	12	10	12	0	2	2	2	1	0	1	3	2	3	2	4	2	2	1	4	2	2	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:114453240G>A	ENST00000375478.3	-	3	780	c.600C>T	c.(598-600)gaC>gaT	p.D200D	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	200						extracellular vesicular exosome (GO:0070062)											AGATCACCCTGTCATAGCCTT	0.532																																						uc001ppc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(598-600)gaC>gaT		Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.							77	83	81					11																	114453240		2199	4295	6494	SO:0001819	synonymous_variant	54827					extracellular region		g.chr11:114453240G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.600C>T	11.37:g.114453240G>A						FAM55D_uc001ppd.3_Intron	p.D200D	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	2	781	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	200					Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	c.600C>T	CCDS41718.1																																																																																				0.532	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		A	114453240	G	A	114453240	2	1	138	1	0	0	0	0	0	0	0	1	5587	1368	48	3		3	FAM55D	11	114453240	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	5664521	114453240	20553276	43	9459											
ETS1	2113	broad.mit.edu	37	chr11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggtctcggagaatgaccGaggggtagtcattctcatac	10	9	14	8	2	3	2	2	1	2	1	5	5	3	2	1	4	1	1	1	4	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:128354828G>A	ENST00000319397.6	-	5	929	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_ENST00000531611.1_Missense_Mutation_p.S207L|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.S251L|ETS1_ENST00000345075.4_Missense_Mutation_p.S207L|ETS1_ENST00000526145.2_Missense_Mutation_p.S207L	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S207L(1)|p.S251L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGAATGACCGAGGGGTAGTC	0.522																																						uc010sbs.1																			2	Substitution - Missense(2)	p.S207L(2)|p.S251L(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(619-621)tCg>tTg		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.							144	129	134					11																	128354828		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354828G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.620C>T	11.37:g.128354828G>A	ENSP00000324578:p.Ser207Leu					ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L	p.S207L	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	936	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	207					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.620C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765361	0.31228	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.47177	3.07;2.69;0.85;2.72;3.07	5.67	5.67	0.87782	.	0.505280	0.19302	N	0.117612	T	0.31167	0.0788	N	0.12182	0.205	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.08086	-1.0739	10	0.39692	T	0.17	.	13.0358	0.58870	0.0736:0.0:0.9264:0.0	.	207;207;251	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	L	207;251;207;207;207	ENSP00000340485:S207L;ENSP00000376436:S251L;ENSP00000435666:S207L;ENSP00000324578:S207L;ENSP00000433500:S207L	ENSP00000324578:S207L	S	-	2	0	ETS1	127860038	0.998000	0.40836	0.943000	0.38184	0.742000	0.42306	3.738000	0.55067	2.673000	0.90976	0.561000	0.74099	TCG		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		A	128354828	G	A	128354828	3	1	138	1	0	0	0	0	1	0	0	0	5275	1059	37	2	721	2	ETS1	11	128354828	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	13901588	128354828	6651688	44	9460											
GDF3	9573	broad.mit.edu	37	chr12	7848193	7848193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagatataaggcacaggttgGaacttctggggtgaaggcgc	12	8	15	6	1	1	2	0	1	1	1	1	3	1	3	0	6	1	2	0	6	5	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:7848193G>A	ENST00000329913.3	-	1	179	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	44					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCACAGGTTGGAACTTCTGGG	0.498																																						uc001qte.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(130-132)ttC>ttT		Homo sapiens growth differentiation factor 3 (GDF3), mRNA.							48	49	48					12																	7848193		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848193G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.132C>T	12.37:g.7848193G>A							p.F44F	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			0	168	-			44					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.132C>T	CCDS8581.1																																																																																				0.498	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			A	7848193	G	A	7848193	2	1	138	1	0	0	0	0	0	0	0	1	6315	1165	41	3		3	GDF3	12	7848193	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		7848193	126003702	45	9461											
GLI1	2735	broad.mit.edu	37	chr12	57861990	57861990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaaagcagactgactGtgccagagggtgccatggtg	10	6	18	7	0	0	3	0	1	0	2	0	5	0	5	2	4	3	1	2	4	1	0			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:57861990G>C	ENST00000228682.2	+	10	1382	c.1291G>C	c.(1291-1293)Gtg>Ctg	p.V431L	GLI1_ENST00000546141.1_Missense_Mutation_p.V390L|GLI1_ENST00000543426.1_Missense_Mutation_p.V303L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	431					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGACTGACTGTGCCAGAGGG	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.3																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1291-1293)Gtg>Ctg		Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.							42	43	43					12																	57861990		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861990G>C		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1291G>C	12.37:g.57861990G>C	ENSP00000228682:p.Val431Leu					GLI1_uc021qzi.1_Missense_Mutation_p.V390L|GLI1_uc009zpq.3_Missense_Mutation_p.V303L	p.V431L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		9	1385	+			431					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1291G>C	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232555	0.39498	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.14766	2.62;2.48;2.56;2.56	4.95	4.06	0.47325	.	0.000000	0.44688	D	0.000422	T	0.13157	0.0319	L	0.38175	1.15	0.38116	D	0.93772	B	0.29378	0.243	B	0.33690	0.168	T	0.11867	-1.0570	10	0.34782	T	0.22	.	12.5774	0.56371	0.0829:0.0:0.9171:0.0	.	431	P08151	GLI1_HUMAN	L	303;431;390;390;303	ENSP00000437607:V303L;ENSP00000228682:V431L;ENSP00000441006:V390L;ENSP00000434408:V390L	ENSP00000228682:V431L	V	+	1	0	GLI1	56148257	1.000000	0.71417	0.772000	0.31596	0.083000	0.17756	6.330000	0.72925	1.213000	0.43380	-0.140000	0.14226	GTG		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		C	57861990	G	C	57861990	3	2	138	1	0	0	0	0	1	0	0	0	6437	1377	48	5	1325	5	GLI1	12	57861990	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	50013797	57861990	75989905	46	9462											
LGR5	8549	broad.mit.edu	37	chr12	71974190	71974190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagaaagatgctggaatGtttcaggctcaaggtaggac	14	9	12	6	0	2	2	2	0	0	2	2	4	2	4	0	4	1	4	0	4	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:71974190G>A	ENST00000266674.5	+	16	1850	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.M489I|LGR5_ENST00000536515.1_Missense_Mutation_p.M441I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	513					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGCTGGAATGTTTCAGGCTC	0.388																																						uc001swl.3																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1537-1539)atG>atA		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.							254	234	240					12																	71974190		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71974190G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1539G>A	12.37:g.71974190G>A	ENSP00000266674:p.Met513Ile					LGR5_uc001swm.3_Missense_Mutation_p.M489I|LGR5_uc021rar.1_Missense_Mutation_p.M441I|LGR5_uc001swn.1_Non-coding_Transcript	p.M513I	NM_003667	NP_003658	O75473	LGR5_HUMAN			15	1587	+			513					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1539G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763957	0.31228	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.21361	2.01;2.01;2.01	5.38	0.357	0.16079	.	0.490862	0.20516	N	0.090799	T	0.16642	0.0400	L	0.53249	1.67	0.24767	N	0.992897	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.18650	-1.0330	10	0.33940	T	0.23	.	6.3339	0.21285	0.3412:0.1173:0.5415:0.0	.	489;513	O75473-2;O75473	.;LGR5_HUMAN	I	513;513;441;489	ENSP00000266674:M513I;ENSP00000443033:M441I;ENSP00000441035:M489I	ENSP00000266674:M513I	M	+	3	0	LGR5	70260457	1.000000	0.71417	0.061000	0.19648	0.858000	0.48976	1.752000	0.38349	-0.134000	0.11516	-0.142000	0.14014	ATG		0.388	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		A	71974190	G	A	71974190	3	1	138	1	0	0	0	0	1	0	0	0	8757	1377	48	3	1601	3	LGR5	12	71974190	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	14112200	71974190	61877705	47	9463											
C12orf51	283450	broad.mit.edu	37	chr12	112622897	112622897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgaggaggaggaggaCgagtcactgagatttggggc	11	5	20	5	2	1	1	1	1	0	1	1	10	1	6	0	7	0	0	0	7	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:112622897C>T	ENST00000430131.2	-	60	9752	c.8607G>A	c.(8605-8607)tcG>tcA	p.S2869S	HECTD4_ENST00000550722.1_Silent_p.S3145S|HECTD4_ENST00000377560.5_Silent_p.S3119S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2869	Ser-rich.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGAGGAGGACGAGTCACTGA	0.592																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(9469-9471)tcG>tcA		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							24	26	26					12																	112622897		2075	4181	6256	SO:0001819	synonymous_variant	283450							g.chr12:112622897C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8607G>A	12.37:g.112622897C>T							p.S3157S	NM_001109662	NP_001103132					60	9867	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.9471G>A																																																																																					0.592	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112622897	C	T	112622897	2	4	138	1	0	0	0	0	0	0	0	1	1696	523	19	1		1	C12orf51	12	112622897	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	40648707	112622897	21228998	48	9464											
TUBA3C	7278	broad.mit.edu	37	chr13	19752399	19752399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccagtttgcggatcCggtccaggaccaggtcgacg	7	10	12	12	4	1	0	0	0	1	0	4	3	3	2	4	4	2	1	4	4	1	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:19752399C>T	ENST00000400113.3	-	3	466	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	121					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTGCGGATCCGGTCCAGGAC	0.522																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(361-363)cGg>cAg		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							207	183	191					13																	19752399		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752399C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.362G>A	13.37:g.19752399C>T	ENSP00000382982:p.Arg121Gln						p.R121Q	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	467	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	121					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.362G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	12.28	1.890100	0.33348	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69561	-0.41	1.53	1.53	0.23141	.	0.000000	0.45126	U	0.000391	T	0.71126	0.3303	.	.	.	0.39289	D	0.964697	.	.	.	.	.	.	T	0.74976	-0.3480	7	0.87932	D	0	.	9.0464	0.36349	0.0:1.0:0.0:0.0	.	.	.	.	Q	121	ENSP00000382982:R121Q	ENSP00000354037:R121Q	R	-	2	0	TUBA3C	18650399	0.872000	0.30054	0.999000	0.59377	0.982000	0.71751	4.682000	0.61671	1.161000	0.42604	0.423000	0.28283	CGG		0.522	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19752399	C	T	19752399	3	4	138	1	0	0	0	0	1	0	0	0	16743	652	23	2	1002	2	TUBA3C	13	19752399	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		19752399	95417479	49	9465											
FLT1	2321	broad.mit.edu	37	chr13	28919630	28919630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataggagccagaagagagtCgcagccacacaggtgcatgt	14	5	13	9	1	0	2	0	0	0	2	1	4	0	3	2	2	3	2	2	2	3	1	rs142392658		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:28919630C>T	ENST00000282397.4	-	16	2558	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398																																						uc001usb.3																			0		p.A769S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2305-2307)gcG>gcA		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)	C		0,4406		0,0,2203	61	61	61		2307	-9.2	0.4	13	dbSNP_134	61	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FLT1	NM_002019.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		769/1339	28919630	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919630C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2307G>A	13.37:g.28919630C>T						FLT1_uc001usa.3_5'UTR	p.A769A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	15	2592	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	769					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2307G>A	CCDS9330.1																																																																																				0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	28919630	C	T	28919630	2	4	138	1	0	0	0	0	0	0	0	1	5941	871	31	2		2	FLT1	13	28919630	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	9167231	28919630	86250248	50	9466											
TEP1	7011	broad.mit.edu	37	chr14	20871545	20871545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggactcacctttctctgCtcttctctgagaaaccctat	9	13	6	13	0	4	1	1	1	3	1	6	3	4	2	2	1	2	1	2	1	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20871545C>T	ENST00000262715.5	-	7	1297	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	TEP1_ENST00000556935.1_Silent_p.E311E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	419	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTCTCTGCTCTTCTCTGA	0.408																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1255-1257)gaG>gaA		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							176	173	174					14																	20871545		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871545C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1257G>A	14.37:g.20871545C>T						TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E311E	p.E419E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1297	-	all_cancers(95;0.00123)	all_lung(585;0.235)	419			TROVE.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.1257G>A	CCDS9548.1																																																																																				0.408	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20871545	C	T	20871545	2	4	138	1	0	0	0	0	0	0	0	1	15756	796	28	3		3	TEP1	14	20871545	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		20871545	86477995	51	9467											
OSGEP	55644	broad.mit.edu	37	chr14	20917163	20917163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtatcctggacttgggtCgttagaaatctagcagaaga	11	12	12	6	1	1	3	0	0	1	3	3	4	2	4	1	2	1	4	1	2	5	5	rs575185404		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20917163C>T	ENST00000206542.4	-	5	938	c.517G>A	c.(517-519)Gac>Aac	p.D173N	OSGEP_ENST00000554249.1_5'UTR|RP11-203M5.7_ENST00000555435.1_RNA|OSGEP_ENST00000555656.1_5'UTR|OSGEP_ENST00000556252.1_5'Flank	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GGACTTGGGTCGTTAGAAATC	0.448																																						uc001vxf.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(517-519)Gac>Aac		Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.							177	180	179					14																	20917163		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20917163C>T	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.517G>A	14.37:g.20917163C>T	ENSP00000206542:p.Asp173Asn						p.D173N	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	4	942	-	all_cancers(95;0.00123)	all_lung(585;0.235)	173						Missense_Mutation	SNP	ENST00000206542.4	37	c.517G>A	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878113	0.72294	.	.	ENSG00000092094	ENST00000206542	T	0.40756	1.02	6.17	6.17	0.99709	Peptidase M22, glycoprotease (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.76002	2.32	0.80722	D	1	B	0.28820	0.224	B	0.33690	0.168	T	0.48581	-0.9023	10	0.52906	T	0.07	-32.2756	19.6509	0.95805	0.0:1.0:0.0:0.0	.	173	Q9NPF4	OSGEP_HUMAN	N	173	ENSP00000206542:D173N	ENSP00000206542:D173N	D	-	1	0	OSGEP	19987003	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	7.367000	0.79558	2.941000	0.99782	0.655000	0.94253	GAC		0.448	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807		T	20917163	C	T	20917163	3	4	138	1	0	0	0	0	1	0	0	0	11287	884	31	2	518	2	OSGEP	14	20917163	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	45618	20917163	86432377	52	9468											
PAPOLA	10914	broad.mit.edu	37	chr14	97022277	97022277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtaaattccagtgaaagCtcagggggtaaggagattgg	14	8	14	5	0	1	2	1	1	0	1	2	3	2	2	1	4	1	3	1	4	5	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:97022277C>G	ENST00000216277.8	+	18	1978	c.1758C>G	c.(1756-1758)agC>agG	p.S586R	PAPOLA_ENST00000392990.2_Missense_Mutation_p.S586R	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	586	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAGTGAAAGCTCAGGGGGTA	0.398																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1756-1758)agC>agG		Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.							79	81	80					14																	97022277		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022277C>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1758C>G	14.37:g.97022277C>G	ENSP00000216277:p.Ser586Arg					PAPOLA_uc001yfr.3_Missense_Mutation_p.S585R|PAPOLA_uc010twv.2_Missense_Mutation_p.S586R|PAPOLA_uc010avp.3_Missense_Mutation_p.S336R	p.S586R	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	17	1975	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	586			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1758C>G	CCDS9946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.562670|2.562670	0.45694|0.45694	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000556459|ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.084638	.|0.85682	.|D	.|0.000000	T|T	0.57198|0.57198	0.2037|0.2037	L|L	0.53249|0.53249	1.67|1.67	0.46701|0.46701	D|D	0.99916|0.99916	.|P;P;P	.|0.49783	.|0.928;0.883;0.883	.|P;B;B	.|0.45829	.|0.494;0.299;0.299	T|T	0.56135|0.56135	-0.8029|-0.8029	5|9	.|0.39692	.|T	.|0.17	.|.	13.6247|13.6247	0.62157|0.62157	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	.|602;602;586	.|F5H5I8;B4DYF4;P51003	.|.;.;PAPOA_HUMAN	G|R	87|586;602;586;336	.|.	.|ENSP00000216277:S586R	A|S	+|+	2|3	0|2	PAPOLA|PAPOLA	96092030|96092030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.751000|3.751000	0.55165|0.55165	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.398	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			G	97022277	C	G	97022277	3	3	138	1	0	0	0	0	1	0	0	0	11429	796	28	5	1828	5	PAPOLA	14	97022277	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	76105114	97022277	10327263	53	9469											
AHNAK2	113146	broad.mit.edu	37	chr14	105417016	105417016	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctatctggggccccttgAggtccactttgggcatcttg	5	13	11	12	0	3	1	0	1	3	0	4	1	4	1	3	4	0	1	3	4	1	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:105417016A>T	ENST00000333244.5	-	7	4891	c.4772T>A	c.(4771-4773)cTc>cAc	p.L1591H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1591						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCCTTGAGGTCCACTTT	0.592																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4771-4773)cTc>cAc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							116	127	123					14																	105417016		1813	4026	5839	SO:0001583	missense	113146					nucleus		g.chr14:105417016A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4772T>A	14.37:g.105417016A>T	ENSP00000353114:p.Leu1591His					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	p.L1591H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4892	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1591					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4772T>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	1.938	-0.444318	0.04604	.	.	ENSG00000185567	ENST00000333244	T	0.01347	4.99	3.21	3.21	0.36854	.	.	.	.	.	T	0.06462	0.0166	M	0.82517	2.595	0.09310	N	1	D	0.71674	0.998	D	0.65684	0.937	T	0.27123	-1.0083	9	0.20046	T	0.44	-12.2055	8.5042	0.33177	1.0:0.0:0.0:0.0	.	1591	Q8IVF2	AHNK2_HUMAN	H	1591	ENSP00000353114:L1591H	ENSP00000353114:L1591H	L	-	2	0	AHNAK2	104488061	0.053000	0.20554	0.014000	0.15608	0.033000	0.12548	3.529000	0.53532	1.432000	0.47375	0.397000	0.26171	CTC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105417016	A	T	105417016	3	4	138	1	0	0	0	0	1	0	0	0	415	304	11	5	12619	5	AHNAK2	14	105417016	Missense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	8394739	105417016	1932524	54	9470											
TJP1	7082	broad.mit.edu	37	chr15	30012191	30012192	+	Frame_Shift_Ins	INS	-	-	T																															ggtttgtttcaggcgaaaggINStaagggactggagatgaagc																										TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr15:30012191_30012192insT	ENST00000346128.6	-	20	3266_3267	c.2792_2793insA	c.(2791-2793)tacfs	p.Y931fs	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Frame_Shift_Ins_p.Y931fs|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	931					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGGCGAAAGGTAAGGGACTGG	0.386																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2791-2793)tacfs		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012191_30012192insT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2793dupA	15.37:g.30012192_30012192dupT	ENSP00000281537:p.Tyr931fs					TJP1_uc010azl.3_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	p.Y931fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	19	3267_3268	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	931					B4E3K1|Q2NKP3|Q4ZGJ6	Frame_Shift_Ins	INS	ENST00000346128.6	37	c.2792_2793insA	CCDS42007.1																																																																																				0.386	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		T	30012192	-	T	30012191	7	5	138	1	0	1	1	0	0	0	0	0	15926	1256	44	0	2489	0	TJP1	15	30012191	Frame_Shift_Ins	INS	-	TCGA-14-1450-01B-01D-1845-08		30012191	72519201	55	9471											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-																															tctcagcaccaagaggaactTcctcctcctcctctgcctcc																										TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						uc002lgy.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(568-573)cttcct>ctt		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.																																				SO:0001651	inframe_deletion	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	p.P194del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			8	853_855	+			194			WW 1.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.570_572delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			-	55992286	TCC	-	55992284	7	5	138	1	0	1	0	1	0	0	0	0	10311	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-14-1450-01B-01D-1845-08		55992284	22084964	56	9472											
DAPK3	1613	broad.mit.edu	37	chr19	3959627	3959627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccacgcacgttccgccgCcggatcgcctaggaaggagg	8	5	13	15	6	1	0	1	0	0	0	3	3	2	3	5	4	0	2	5	4	2	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:3959627C>T	ENST00000545797.2	-	9	1080	c.837G>A	c.(835-837)cgG>cgA	p.R279R	DAPK3_ENST00000301264.3_Silent_p.R279R|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	279					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCGCCGCCGGATCGCCT	0.687																																						uc002lzc.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(835-837)cgG>cgA		Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.							13	12	12					19																	3959627		1931	3812	5743	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3959627C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.837G>A	19.37:g.3959627C>T						DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	p.R279R	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	7	931	-		Hepatocellular(1079;0.137)	279					A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.837G>A	CCDS12116.1																																																																																				0.687	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		T	3959627	C	T	3959627	2	4	138	1	0	0	0	0	0	0	0	1	4237	726	26	3		3	DAPK3	19	3959627	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		3959627	55169356	57	9473											
UBXN6	80700	broad.mit.edu	37	chr19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-																															tgggcttctctttgtgggccTtttccctgggaacagaccga																										TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)aagfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667																																						uc002man.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(88-90)aagfs		Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.							102	115	111					19																	4454085		2203	4300	6503	SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454085delT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.89delA	19.37:g.4454085delT	ENSP00000301281:p.Lys30fs					UBXN6_uc002mam.2_5'UTR	p.K30fs	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			1	186	-			30					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Del	DEL	ENST00000301281.6	37	c.89delA	CCDS12129.1																																																																																				0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		-	4454085	T	-	4454085	7	5	138	1	0	1	0	1	0	0	0	0	16914	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-14-1450-01B-01D-1845-08	494458	4454085	54674898	58	9474											
KHSRP	8570	broad.mit.edu	37	chr19	6416419	6416419	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgggcagagaggaccCtagaaggaaggagagtaacc	15	3	14	9	0	0	3	0	0	0	3	0	7	0	5	3	4	2	2	3	4	5	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:6416419C>A	ENST00000398148.3	-	15	1581		c.e15-1		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AGAGAGGACCCTAGAAGGAAG	0.637																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.e15-1		Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.							19	21	20					19																	6416419		1862	4097	5959	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416419C>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1489-1G>T	19.37:g.6416419C>A							p.G497_splice	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			15	1599	-			497					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.1489_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036004	0.75617	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7632	0.88470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367419	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	4.152000	0.58111	2.482000	0.83794	0.655000	0.94253	.		0.637	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron	A	6416419	C	A	6416419	5	1	138	1	0	0	0	0	0	0	1	0	8151	695	24	5	671	5	KHSRP	19	6416419	Splice_Site	SNP	C	TCGA-14-1450-01B-01D-1845-08	1962334	6416419	52712564	59	9475											
TSPAN16	26526	broad.mit.edu	37	chr19	11417292	11417292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctatagctaaagtgctgtGgggtgaataactacacagat	13	11	10	7	0	1	2	0	1	1	1	1	2	1	2	0	2	4	2	0	2	7	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:11417292G>A	ENST00000316737.1	+	5	613	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	TSPAN16_ENST00000592955.1_Missense_Mutation_p.G130R|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000590327.1_Missense_Mutation_p.G155R	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	155						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGTGCTGTGGGGTGAATAA	0.438																																						uc002mqv.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(463-465)Ggg>Agg		Homo sapiens tetraspanin 16 (TSPAN16), mRNA.							102	93	96					19																	11417292		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11417292G>A	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"Tetraspanins"	30725	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 16"	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.463G>A	19.37:g.11417292G>A	ENSP00000319486:p.Gly155Arg					TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	p.G155R	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			4	613	+			155					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.463G>A	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157009	0.57259	.	.	ENSG00000130167	ENST00000316737	D	0.99201	-5.55	3.25	3.25	0.37280	Tetraspanin, EC2 domain (1);	0.562941	0.14991	N	0.286666	D	0.99165	0.9711	M	0.84511	2.7	0.28899	N	0.8934	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	10	0.87932	D	0	-10.5796	10.2667	0.43460	0.0:0.0:1.0:0.0	.	155	Q9UKR8	TSN16_HUMAN	R	155	ENSP00000319486:G155R	ENSP00000319486:G155R	G	+	1	0	TSPAN16	11278292	0.951000	0.32395	0.968000	0.41197	0.867000	0.49689	1.746000	0.38288	2.110000	0.64415	0.561000	0.74099	GGG		0.438	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		A	11417292	G	A	11417292	3	1	138	1	0	0	0	0	1	0	0	0	16637	1348	47	3	481	3	TSPAN16	19	11417292	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	5000873	11417292	47711691	60	9476											
NOTCH3	4854	broad.mit.edu	37	chr19	15272328	15272328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagaggccccaggccGtggggaccgggggggctgcg	6	2	21	12	3	0	2	0	0	0	2	0	3	0	3	4	7	2	2	4	7	0	0			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:15272328G>A	ENST00000263388.2	-	33	6186	c.6111C>T	c.(6109-6111)caC>caT	p.H2037H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2037					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCCAGGCCGTGGGGACCGG	0.706																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6109-6111)caC>caT		Homo sapiens notch 3 (NOTCH3), mRNA.							10	13	12					19																	15272328		2183	4280	6463	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15272328G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6111C>T	19.37:g.15272328G>A							p.H2037H	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		32	6187	-			2037					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6111C>T	CCDS12326.1																																																																																				0.706	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15272328	G	A	15272328	2	1	138	1	0	0	0	0	0	0	0	1	10550	1136	40	1		1	NOTCH3	19	15272328	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	3855036	15272328	43856655	61	9477											
TSKS	60385	broad.mit.edu	37	chr19	50251361	50251361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgagttgaatgcagtacCcctccaactcttctgcctct	7	13	6	15	0	3	2	0	2	3	0	4	2	4	2	5	0	4	3	5	0	3	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:50251361C>T	ENST00000246801.3	-	4	642	c.560G>A	c.(559-561)gGg>gAg	p.G187E	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	187					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AATGCAGTACCCCTCCAACTC	0.567																																						uc002ppm.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(559-561)gGg>gAg		Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.							203	170	181					19																	50251361		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50251361C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.560G>A	19.37:g.50251361C>T	ENSP00000246801:p.Gly187Glu						p.G187E	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	3	571	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	187					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.560G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870245	0.51588	.	.	ENSG00000126467	ENST00000246801	T	0.28895	1.59	5.6	5.6	0.85130	.	0.000000	0.53938	D	0.000042	T	0.32194	0.0821	L	0.29908	0.895	0.80722	D	1	P	0.46142	0.873	P	0.52710	0.707	T	0.01834	-1.1264	10	0.25751	T	0.34	-31.703	10.6044	0.45386	0.0:0.9122:0.0:0.0878	.	187	Q9UJT2	TSKS_HUMAN	E	187	ENSP00000246801:G187E	ENSP00000246801:G187E	G	-	2	0	TSKS	54943173	0.982000	0.34865	0.993000	0.49108	0.963000	0.63663	2.445000	0.44899	2.642000	0.89623	0.462000	0.41574	GGG		0.567	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50251361	C	T	50251361	3	4	138	1	0	0	0	0	1	0	0	0	16623	623	22	3	1250	3	TSKS	19	50251361	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	34979033	50251361	8877622	62	9478											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1	rs199829982		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.		C		1,4405		0,1,2202	29	31	30		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	p.G610G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2262	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31022345	C	T	31022345	2	4	138	1	0	0	0	0	0	0	0	1	1066	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		31022345	32003175	63	9479											
C20orf152	140894	broad.mit.edu	37	chr20	34560629	34560629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggcctcaggggattcCgggaatatcaaatcattgag	12	8	12	9	1	3	1	3	1	0	0	4	3	4	3	3	4	0	0	3	4	4	3	rs150690141	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:34560629C>T	ENST00000373973.3	+	2	303	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	CNBD2_ENST00000538900.1_Missense_Mutation_p.R44W|CNBD2_ENST00000349339.1_Missense_Mutation_p.R44W			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	44								p.R44R(1)									CAGGGGATTCCGGGAATATCA	0.473																																						uc002xer.1																			1	Substitution - coding silent(1)	p.R44R(2)	lung(1)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(130-132)Cgg>Tgg		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	150	138	142		130,130	5.9	1	20	dbSNP_134	142	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C20orf152	NM_001207076.1,NM_080834.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	44/424,44/573	34560629	2,13004	2203	4300	6503	SO:0001583	missense	140894							g.chr20:34560629C>T	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.130C>T	20.37:g.34560629C>T	ENSP00000363084:p.Arg44Trp					C20orf152_uc002xes.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_Non-coding_Transcript	p.R44W	NM_080834	NP_543024	Q96M20	CT152_HUMAN			1	286	+	Breast(12;0.00631)		44					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.130C>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.726843	0.89390	0.0	2.33E-4	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.15718	2.4;2.4;2.51	5.9	5.9	0.94986	.	0.000000	0.53938	D	0.000047	T	0.41743	0.1172	M	0.66939	2.045	0.41863	D	0.990235	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.15694	-1.0428	10	0.87932	D	0	-30.1333	15.779	0.78246	0.0:1.0:0.0:0.0	.	44;44	Q96M20;Q96M20-2	CT152_HUMAN;.	W	44	ENSP00000363084:R44W;ENSP00000340954:R44W;ENSP00000442729:R44W	ENSP00000340954:R44W	R	+	1	2	C20orf152	34024043	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.311000	0.43717	2.788000	0.95919	0.650000	0.86243	CGG		0.473	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		T	34560629	C	T	34560629	3	4	138	1	0	0	0	0	1	0	0	0	2092	643	23	2	136	2	C20orf152	20	34560629	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	3538284	34560629	28464891	64	9480											
TIAM1	7074	broad.mit.edu	37	chr21	32638854	32638854	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaatgctgcctcctgccTccctcagccaaatatgtagc	9	10	8	14	0	1	0	1	0	0	0	3	1	3	1	5	1	5	2	5	1	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr21:32638854T>C	ENST00000286827.3	-	5	906	c.435A>G	c.(433-435)ggA>ggG	p.G145G	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.G145G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	145					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTCCTGCCTCCCTCAGCCA	0.547																																						uc002yow.1																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(433-435)ggA>ggG		Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.							105	94	97					21																	32638854		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638854T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.435A>G	21.37:g.32638854T>C						TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	p.G145G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			4	907	-			145					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.435A>G	CCDS13609.1																																																																																				0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		C	32638854	T	C	32638854	2	2	138	1	0	0	0	0	0	0	0	1	15887	1538	54	4		4	TIAM1	21	32638854	Silent	SNP	T	TCGA-14-1450-01B-01D-1845-08		32638854	15491041	65	9481											
MAP3K15	389840	broad.mit.edu	37	chrX	19391804	19391804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggccaggacgacaccgCggggaccttctgtaggggga	8	4	18	11	3	1	0	0	0	1	0	1	4	1	3	3	6	0	2	3	6	1	2	rs369415318		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:19391804C>T	ENST00000338883.4	-	21	2782	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	MAP3K15_ENST00000469203.2_Missense_Mutation_p.R760H|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R363H	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	928							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACGACACCGCGGGGACCTTC	0.677																																						uc022btq.1																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2782-2784)cGc>cAc		Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.			HIS/ARG	0,3835		0,0,1632,571	31	28	29		2783	-1	0	X		29	1,6727		0,1,2427,1872	no	missense	MAP3K15	NM_001001671.3	29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	928/1314	19391804	1,10562	2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19391804C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2783G>A	X.37:g.19391804C>T	ENSP00000345629:p.Arg928His					MAP3K15_uc004czj.2_Missense_Mutation_p.R363H|MAP3K15_uc004czk.2_Missense_Mutation_p.R403H|MAP3K15_uc004czi.2_5'Flank	p.R928H	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			20	2783	-	Hepatocellular(33;0.183)		928					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2783G>A		.	.	.	.	.	.	.	.	.	.	c	11.15	1.552549	0.27739	0.0	1.49E-4	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25085	1.82;1.82;1.82	4.31	-1.0	0.10196	Protein kinase-like domain (1);	0.393126	0.27941	N	0.017233	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B;B	0.31485	0.325;0.01	B;B	0.26614	0.071;0.002	T	0.25710	-1.0124	10	0.23891	T	0.37	.	5.409	0.16339	0.1289:0.5521:0.0:0.319	.	403;928	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	H	928;363;760	ENSP00000345629:R928H;ENSP00000352093:R363H;ENSP00000428356:R760H	ENSP00000345629:R928H	R	-	2	0	MAP3K15	19301725	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.433000	0.21477	-0.544000	0.06232	0.509000	0.49947	CGC		0.677	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		T	19391804	C	T	19391804	3	4	138	1	0	0	0	0	1	0	0	0	9249	768	27	1	1194	1	MAP3K15	23	19391804	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		19391804	135878756	66	9482											
ZNF41	7592	broad.mit.edu	37	chrX	47307679	47307679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctttccacattctgtaCatatatagggtttctctccg	9	15	6	11	1	2	1	0	0	2	1	5	1	4	1	3	1	1	2	3	1	4	7			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:47307679C>T	ENST00000377065.4	-	5	2129	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.C497Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.C507Y|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATTCTGTACATATATAGGG	0.428																																						uc004dhs.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1615-1617)tGt>tAt		Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.							105	99	101					X																	47307679		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307679C>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1490G>A	X.37:g.47307679C>T	ENSP00000366265:p.Cys497Tyr					ZNF41_uc004dhu.4_Missense_Mutation_p.C531Y|ZNF41_uc004dht.4_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.4_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.4_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.4_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.4_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.2_Missense_Mutation_p.C411Y	p.C539Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN			3	1683	-		all_lung(315;0.000129)	539					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1616G>A	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550601	0.65311	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.85088	-1.94;-1.94;-1.94	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001780	D	0.94321	0.8175	H	0.96239	3.79	0.38847	D	0.956195	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.999	D	0.96110	0.9076	10	0.87932	D	0	.	13.0759	0.59087	0.0:1.0:0.0:0.0	.	497;499;507;531;539	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	497;497;507	ENSP00000315173:C497Y;ENSP00000366265:C497Y;ENSP00000380243:C507Y	ENSP00000315173:C497Y	C	-	2	0	ZNF41	47192623	1.000000	0.71417	0.788000	0.31933	0.983000	0.72400	5.144000	0.64832	2.246000	0.74042	0.600000	0.82982	TGT		0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		T	47307679	C	T	47307679	3	4	138	1	0	0	0	0	1	0	0	0	17886	478	17	3	853	3	ZNF41	23	47307679	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	27915875	47307679	107962881	67	9483											
GSPT2	23708	broad.mit.edu	37	chrX	51487380	51487380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcaagtcaaccatcGgaggacagataatgtttttg	12	10	11	8	2	1	1	1	0	0	1	2	3	1	3	1	3	1	3	1	3	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:51487380G>A	ENST00000340438.4	+	1	900	c.658G>A	c.(658-660)Gga>Aga	p.G220R		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	220	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTCAACCATCGGAGGACAGAT	0.398																																						uc004dpl.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(658-660)Gga>Aga		Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.							39	34	36					X																	51487380		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487380G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.658G>A	X.37:g.51487380G>A	ENSP00000341247:p.Gly220Arg						p.G220R	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			0	900	+	Ovarian(276;0.236)		220					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.658G>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434011	0.62955	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.70631	-0.5	4.43	4.43	0.53597	Protein synthesis factor, GTP-binding (1);	0.113654	0.64402	D	0.000014	D	0.86900	0.6044	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89811	0.3982	10	0.87932	D	0	-16.7545	13.953	0.64131	0.0:0.0:1.0:0.0	.	220	Q8IYD1	ERF3B_HUMAN	R	220;137	ENSP00000341247:G220R	ENSP00000341247:G220R	G	+	1	0	GSPT2	51504120	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.746000	0.62133	2.465000	0.83290	0.592000	0.82586	GGA		0.398	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			A	51487380	G	A	51487380	3	1	138	1	0	0	0	0	1	0	0	0	6827	1117	39	2	660	2	GSPT2	23	51487380	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	4179701	51487380	103783180	68	9484											
ODZ1	10178	broad.mit.edu	37	chrX	123518365	123518365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtcacatattaccatgCggcccacattatcatattga	12	14	5	10	1	2	1	2	1	0	0	2	1	2	1	2	1	2	0	2	1	5	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:123518365C>T	ENST00000371130.3	-	29	6458	c.6395G>A	c.(6394-6396)cGc>cAc	p.R2132H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.R2139H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2132					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATTACCATGCGGCCCACATT	0.393																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(6415-6417)cGc>cAc		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							203	171	182					X																	123518365		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518365C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6395G>A	X.37:g.123518365C>T	ENSP00000360171:p.Arg2132His					ODZ1_uc011muj.2_Missense_Mutation_p.R2138H|ODZ1_uc004euj.3_Missense_Mutation_p.R2132H	p.R2139H	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			29	6480	-			2132					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6416G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031814	0.75504	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90133	-2.62;-2.59	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.962;0.987	D	0.95287	0.8391	10	0.87932	D	0	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2138;2139;2132	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	2132;2139	ENSP00000360171:R2132H;ENSP00000403954:R2139H	ENSP00000360171:R2132H	R	-	2	0	ODZ1	123346046	1.000000	0.71417	0.851000	0.33527	0.991000	0.79684	7.818000	0.86416	2.272000	0.75746	0.544000	0.68410	CGC		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123518365	C	T	123518365	3	4	138	1	0	0	0	0	1	0	0	0	10834	768	27	1	1794	1	ODZ1	23	123518365	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	72030985	123518365	31752195	69	9485											
ACTRT1	139741	broad.mit.edu	37	chrX	127185914	127185914	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcccgctcaaagagaTgtttccagagtttctccatg	10	11	8	12	1	2	2	1	0	1	2	5	3	4	2	3	0	1	4	3	0	2	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:127185914T>G	ENST00000371124.3	-	1	468	c.272A>C	c.(271-273)cAt>cCt	p.H91P		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	91						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCAAAGAGATGTTTCCAGAG	0.493																																						uc004eum.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(271-273)cAt>cCt		Homo sapiens actin-related protein T1 (ACTRT1), mRNA.							222	209	213					X																	127185914		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185914T>G	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.272A>C	X.37:g.127185914T>G	ENSP00000360165:p.His91Pro						p.H91P	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			0	469	-			91					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.272A>C	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	5.800	0.331971	0.10956	.	.	ENSG00000123165	ENST00000371124	D	0.97505	-4.41	3.76	2.54	0.30619	.	0.412846	0.22123	N	0.064303	D	0.98670	0.9554	H	0.98133	4.155	0.22719	N	0.998817	D	0.56746	0.977	D	0.64506	0.926	D	0.94593	0.7789	10	0.87932	D	0	.	6.9399	0.24486	0.2077:0.0:0.0:0.7923	.	91	Q8TDG2	ACTT1_HUMAN	P	91	ENSP00000360165:H91P	ENSP00000360165:H91P	H	-	2	0	ACTRT1	127013595	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	7.166000	0.77553	0.577000	0.29470	0.441000	0.28932	CAT		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		G	127185914	T	G	127185914	3	3	138	1	0	0	0	0	1	0	0	0	218	1464	51	5	862	5	ACTRT1	23	127185914	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	3667549	127185914	28084646	70	9486											
ARHGEF6	9459	broad.mit.edu	37	chrX	135754253	135754253	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcctcagggagtaggacTtgtggaatggaatcttttcg	8	14	12	7	1	3	0	1	0	2	0	5	4	4	4	1	4	0	1	1	4	3	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:135754253T>A	ENST00000250617.6	-	20	3266	c.2061A>T	c.(2059-2061)caA>caT	p.Q687H	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q533H|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q560H|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q533H	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	687					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGAGTAGGACTTGTGGAATGG	0.458																																						uc004fab.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(2059-2061)caA>caT		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							207	180	189					X																	135754253		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135754253T>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2061A>T	X.37:g.135754253T>A	ENSP00000250617:p.Gln687His					ARHGEF6_uc011mwd.2_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.2_Missense_Mutation_p.Q533H	p.Q687H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			19	2523	-	Acute lymphoblastic leukemia(192;0.000127)		687					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.2061A>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	9.372	1.070756	0.20147	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.56103	0.49;0.6;0.6;0.48	6.03	-2.06	0.07298	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	N	0.25789	0.76	0.47698	D	0.999495	B;B	0.21606	0.014;0.058	B;B	0.23852	0.033;0.049	T	0.05022	-1.0911	10	0.30854	T	0.27	.	11.3788	0.49743	0.0:0.377:0.0:0.623	.	560;687	B7Z3C7;Q15052	.;ARHG6_HUMAN	H	687;533;533;533;560	ENSP00000250617:Q687H;ENSP00000359654:Q533H;ENSP00000359656:Q533H;ENSP00000439483:Q560H	ENSP00000250617:Q687H	Q	-	3	2	ARHGEF6	135581919	0.997000	0.39634	0.967000	0.41034	0.078000	0.17371	0.313000	0.19415	-0.440000	0.07211	-0.314000	0.08810	CAA		0.458	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		A	135754253	T	A	135754253	3	1	138	1	0	0	0	0	1	0	0	0	910	1606	56	5	281	5	ARHGEF6	23	135754253	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	8568339	135754253	19516307	71	9487											
PNCK	139728	broad.mit.edu	37	chrX	152936012	152936012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatctgccccagcttcCggatgtggcgcaggaacgag	7	7	15	12	3	1	0	0	0	1	0	2	4	2	3	3	4	3	2	3	4	1	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:152936012C>T	ENST00000370150.1	-	11	1110	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	PNCK_ENST00000340888.3_Missense_Mutation_p.R311Q|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000447676.2_Missense_Mutation_p.R394Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R334Q|PNCK_ENST00000393831.2_Missense_Mutation_p.R334Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R328Q			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	311	Calmodulin-binding. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCTTCCGGATGTGGCG	0.687																																						uc011myu.2																			0				breast(2)|lung(3)|skin(1)	6						c.(1180-1182)cGg>cAg		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							21	21	21					X																	152936012		2199	4297	6496	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936012C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.932G>A	X.37:g.152936012C>T	ENSP00000359169:p.Arg311Gln					PNCK_uc011myt.2_Missense_Mutation_p.R328Q|PNCK_uc004fhz.4_Missense_Mutation_p.R209Q	p.R394Q	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			10	1367	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		311					B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.1181G>A		.	.	.	.	.	.	.	.	.	.	c	14.23	2.472153	0.43942	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	T;T;T;T;T;T	0.66815	-0.23;-0.23;0.17;0.17;-0.22;-0.18	3.07	2.2	0.27929	Protein kinase-like domain (1);	0.225469	0.27531	N	0.018941	T	0.58764	0.2145	L	0.46741	1.465	0.26967	N	0.965675	D;P;P	0.63880	0.993;0.804;0.804	P;B;B	0.48677	0.586;0.213;0.213	T	0.50931	-0.8769	10	0.35671	T	0.21	-13.2965	4.7211	0.12918	0.0:0.4836:0.3782:0.1382	.	394;328;311	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	Q	311;311;334;334;328;394	ENSP00000340586:R311Q;ENSP00000359169:R311Q;ENSP00000377417:R334Q;ENSP00000359161:R334Q;ENSP00000359164:R328Q;ENSP00000405950:R394Q	ENSP00000340586:R311Q	R	-	2	0	PNCK	152589206	0.007000	0.16637	0.942000	0.38095	0.496000	0.33645	0.368000	0.20399	0.696000	0.31696	0.529000	0.55759	CGG		0.687	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		T	152936012	C	T	152936012	3	4	138	1	0	0	0	0	1	0	0	0	12145	652	23	2	103	2	PNCK	23	152936012	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	17181759	152936012	2334548	72	9488											
CATSPER4	378807	broad.mit.edu	37	chr1	26524560	26524560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatggtcctcatcctcttcTtcatgctggtcagtgcctgc	4	15	8	14	0	6	0	4	0	2	0	8	0	8	0	3	2	3	1	3	2	0	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:26524560T>G	ENST00000456354.2	+	5	737	c.670T>G	c.(670-672)Ttc>Gtc	p.F224V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	224					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCTCTTCTTCATGCTGGT	0.597																																						uc010oez.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(670-672)Ttc>Gtc		Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.							188	171	177					1																	26524560		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524560T>G	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.670T>G	1.37:g.26524560T>G	ENSP00000390423:p.Phe224Val					CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.3_Non-coding_Transcript	p.F224V	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	4	670	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	224					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.670T>G	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128218	0.37533	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98164	-4.76;-4.76	4.6	3.46	0.39613	Ion transport (1);	0.122314	0.37095	N	0.002247	D	0.95169	0.8434	L	0.38838	1.175	0.36558	D	0.872257	B;B	0.24426	0.103;0.041	B;B	0.25614	0.062;0.016	D	0.92705	0.6178	10	0.87932	D	0	-13.2209	6.9393	0.24484	0.0:0.108:0.0:0.892	.	224;224	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	V	224	ENSP00000341006:F224V;ENSP00000390423:F224V	ENSP00000341006:F224V	F	+	1	0	CATSPER4	26397147	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.956000	0.40382	0.614000	0.30107	0.460000	0.39030	TTC		0.597	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		G	26524560	T	G	26524560	3	3	139	1	0	0	0	0	1	0	0	0	2690	1609	56	5	688	5	CATSPER4	1	26524560	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		26524560	222726061	1	9489											
SDCCAG8	10806	broad.mit.edu	37	chr1	243507526	243507526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatctaacaggtgtgtggaGaaatgcgctatcagctgaat	13	10	11	7	1	2	2	1	1	1	1	2	3	2	2	0	2	3	2	0	2	5	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507526G>C	ENST00000366541.3	+	12	1484	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E311Q|MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E413Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	456	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGTGTGTGGAGAAATGCGCTA	0.423																																						uc001hzw.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1366-1368)Gaa>Caa		Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.							93	91	92					1																	243507526		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507526G>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1366G>C	1.37:g.243507526G>C	ENSP00000355499:p.Glu456Gln					SDCCAG8_uc010pyk.2_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E268Q|MIR4677_uc021plt.1_5'Flank	p.E456Q	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	11	1535	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	456			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1366G>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781145	0.70222	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.52295	0.81;0.72;0.75;0.67	6.07	6.07	0.98685	.	0.047828	0.85682	D	0.000000	T	0.68430	0.3000	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59511	-0.7441	10	0.25106	T	0.35	-17.7359	20.6525	0.99598	0.0:0.0:1.0:0.0	.	413;456	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	Q	413;456;311;236	ENSP00000348137:E413Q;ENSP00000355499:E456Q;ENSP00000341260:E311Q;ENSP00000410200:E236Q	ENSP00000341260:E311Q	E	+	1	0	SDCCAG8	241574149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.224000	0.78042	2.890000	0.99128	0.585000	0.79938	GAA		0.423	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		C	243507526	G	C	243507526	3	2	139	1	0	0	0	0	1	0	0	0	13959	943	33	5	1412	5	SDCCAG8	1	243507526	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	216982966	243507526	5743095	2	9490			1	30		2	2	49	G		4.961637e-05
SDCCAG8	10806	broad.mit.edu	37	chr1	243507574	243507574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggagaaggatgaggcaGaaaaggagcacagagagttc	17	4	15	5	0	0	4	0	1	0	3	1	8	0	6	0	4	1	3	0	4	3	1	rs576988620		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507574G>A	ENST00000366541.3	+	12	1532	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E327K|MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E429K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	472	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGATGAGGCAGAAAAGGAGCA	0.393																																						uc001hzw.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1414-1416)Gaa>Aaa		Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.							117	113	114					1																	243507574		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507574G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1414G>A	1.37:g.243507574G>A	ENSP00000355499:p.Glu472Lys					SDCCAG8_uc010pyk.2_Missense_Mutation_p.E327K|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E284K|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E284K|MIR4677_uc021plt.1_5'Flank	p.E472K	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	11	1583	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	472			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1414G>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852367	0.91355	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.55930	0.55;0.49;0.61;0.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.57441	-0.7811	10	0.30078	T	0.28	-17.1412	20.6525	0.99598	0.0:0.0:1.0:0.0	.	429;472	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	429;472;327;252	ENSP00000348137:E429K;ENSP00000355499:E472K;ENSP00000341260:E327K;ENSP00000410200:E252K	ENSP00000341260:E327K	E	+	1	0	SDCCAG8	241574197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.224000	0.78042	2.890000	0.99128	0.585000	0.79938	GAA		0.393	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		A	243507574	G	A	243507574	3	1	139	1	0	0	0	0	1	0	0	0	13959	943	33	3	1460	3	SDCCAG8	1	243507574	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	48	243507574	5743047	3	9491			1	30		2	2	49	G		4.961637e-05
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	139	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		209113112	34086261	4	9492											
ALPPL2	251	broad.mit.edu	37	chr2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgcacgtcatggccttcGccgcctgcctggagccctac	5	8	11	17	4	1	0	1	0	0	0	2	1	1	1	5	2	4	1	5	2	2	3			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CATGGCCTTCGCCGCCTGCCT	0.751																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1450-1452)Gcc>Acc		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						13	16	15					2																	233274433		2183	4267	6450	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274433G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1450G>A	2.37:g.233274433G>A	ENSP00000295453:p.Ala484Thr						p.A484T	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1503	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	484					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1450G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	ALPPL2	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC		0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		A	233274433	G	A	233274433	3	1	139	1	0	0	0	0	1	0	0	0	549	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	24161321	233274433	9924940	5	9493											
SPP2	6694	broad.mit.edu	37	chr2	234967503	234967503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcctagatgagaacaaCttggtcatgaatttagagtt	13	12	11	5	0	1	4	1	2	0	3	2	6	2	4	1	2	2	1	1	2	5	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:234967503C>G	ENST00000168148.3	+	3	322	c.234C>G	c.(232-234)aaC>aaG	p.N78K	SPP2_ENST00000373368.1_Missense_Mutation_p.N78K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	78					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATGAGAACAACTTGGTCATGA	0.423																																						uc002vvk.1																			0		p.N77D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(232-234)aaC>aaG		Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.							129	117	121					2																	234967503		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234967503C>G		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.234C>G	2.37:g.234967503C>G	ENSP00000168148:p.Asn78Lys					SPP2_uc010fyl.1_5'UTR	p.N78K	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	2	319	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	78					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.234C>G	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936469	0.18206	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.41065	1.01;1.01	5.22	-1.59	0.08453	.	1.324860	0.05122	N	0.490862	T	0.25082	0.0609	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.21930	-1.0231	10	0.51188	T	0.08	-0.1243	0.6309	0.00794	0.2786:0.3429:0.1288:0.2497	.	78	Q13103	SPP24_HUMAN	K	78	ENSP00000362466:N78K;ENSP00000168148:N78K	ENSP00000168148:N78K	N	+	3	2	SPP2	234632242	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-0.128000	0.10531	-0.350000	0.08262	-0.234000	0.12200	AAC		0.423	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		G	234967503	C	G	234967503	3	3	139	1	0	0	0	0	1	0	0	0	15086	564	20	5	244	5	SPP2	2	234967503	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	1693070	234967503	8231870	6	9494											
PER2	8864	broad.mit.edu	37	chr2	239157759	239157759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccactggtggacctcgcGcagctcctgcttctgactct	5	11	9	16	2	2	1	0	1	2	0	5	2	4	2	3	2	2	3	3	2	0	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:239157759G>A	ENST00000254657.3	-	22	3841	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1188	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGACCTCGCGCAGCTCCTGC	0.567																																						uc002vyc.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3562-3564)Cgc>Tgc		Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.							123	134	131					2																	239157759		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239157759G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3562C>T	2.37:g.239157759G>A	ENSP00000254657:p.Arg1188Cys					PER2_uc010znv.1_Missense_Mutation_p.R1188C	p.R1188C	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	21	3799	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1188			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.3562C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438901	0.12104	.	.	ENSG00000132326	ENST00000254657	T	0.14391	2.51	5.32	1.14	0.20703	Period circadian-like, C-terminal (1);	0.843059	0.10856	N	0.626645	T	0.10121	0.0248	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.08055	0.003;0.003	T	0.36407	-0.9749	10	0.54805	T	0.06	-0.158	1.3987	0.02266	0.1677:0.137:0.3825:0.3129	.	1188;1188	B4DH14;O15055	.;PER2_HUMAN	C	1188	ENSP00000254657:R1188C	ENSP00000254657:R1188C	R	-	1	0	PER2	238822498	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	0.218000	0.17622	0.304000	0.22809	-0.274000	0.10170	CGC		0.567	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239157759	G	A	239157759	3	1	139	1	0	0	0	0	1	0	0	0	11730	1087	38	1	213	1	PER2	2	239157759	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	4190256	239157759	4041614	7	9495											
PIK3R1	5295	broad.mit.edu	37	chr5	67589147	67589147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagggggaaataacAaattaatcaaaatatttcat	21	9	7	4	0	2	0	2	0	0	0	2	2	2	2	0	3	1	0	0	3	8	4			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:67589147A>G	ENST00000521381.1	+	10	1751	c.1135A>G	c.(1135-1137)Aaa>Gaa	p.K379E	PIK3R1_ENST00000523872.1_Missense_Mutation_p.K16E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K379E|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K109E|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K379E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K379E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K79E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GGGAAATAACAAATTAATCAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1137)Aaa>Gaa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						53	59	57					5																	67589147		2189	4293	6482	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589147A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1135A>G	5.37:g.67589147A>G	ENSP00000428056:p.Lys379Glu	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109E|PIK3R1_uc003jve.3_Missense_Mutation_p.K58E|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16E|PIK3R1_uc011crb.2_Missense_Mutation_p.K49E	p.K379E	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1715	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1135A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785206	0.90282	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94739	0.8302	M	0.85099	2.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.80764	0.984;0.989;0.98;0.994	D	0.95469	0.8550	10	0.87932	D	0	-33.0253	15.5279	0.75925	1.0:0.0:0.0:0.0	.	49;109;79;379	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	E	379;379;379;379;109;79;16;109;52;16	ENSP00000428056:K379E;ENSP00000429277:K379E;ENSP00000379855:K379E;ENSP00000274335:K379E;ENSP00000430126:K109E;ENSP00000323512:K79E;ENSP00000431058:K16E;ENSP00000338554:K109E;ENSP00000429156:K52E;ENSP00000430098:K16E	ENSP00000274335:K379E	K	+	1	0	PIK3R1	67624903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.313000	0.78055	0.454000	0.30748	AAA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		G	67589147	A	G	67589147	3	3	139	1	0	0	0	0	1	0	0	0	11918	131	5	4	1299	4	PIK3R1	5	67589147	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		67589147	113326113	8	9496											
ARSK	153642	broad.mit.edu	37	chr5	94936730	94936730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgaactaaccactggaaaTatatagcctattcggatggt	13	12	8	8	2	0	0	0	0	0	0	2	3	0	2	2	3	3	0	2	3	7	7			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:94936730T>C	ENST00000380009.4	+	7	1481	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	426					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CCACTGGAAATATATAGCCTA	0.368																																						uc003kld.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(1276-1278)Tat>Cat		Homo sapiens arylsulfatase family, member K (ARSK), mRNA.							137	130	132					5																	94936730		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94936730T>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1276T>C	5.37:g.94936730T>C	ENSP00000369346:p.Tyr426His					ARSK_uc010jbg.3_Missense_Mutation_p.Y267H|ARSK_uc011cum.2_Non-coding_Transcript	p.Y426H	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1434	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	426					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.1276T>C	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320171	0.60634	.	.	ENSG00000164291	ENST00000380009	D	0.99908	-7.83	5.84	5.84	0.93424	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99919	0.9962	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95867	0.8888	10	0.87932	D	0	-17.1522	16.2167	0.82231	0.0:0.0:0.0:1.0	.	426	Q6UWY0	ARSK_HUMAN	H	426	ENSP00000369346:Y426H	ENSP00000369346:Y426H	Y	+	1	0	ARSK	94962486	1.000000	0.71417	0.993000	0.49108	0.101000	0.19017	7.559000	0.82265	2.231000	0.72958	0.533000	0.62120	TAT		0.368	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		C	94936730	T	C	94936730	3	2	139	1	0	0	0	0	1	0	0	0	996	1406	49	4	1302	4	ARSK	5	94936730	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08	27347583	94936730	85978530	9	9497											
MSH5	4439	broad.mit.edu	37	chr6	31729252	31729252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctgccctctttgcaggtgGatgggctcgcgcttctggcc	2	12	13	14	2	3	0	0	0	3	0	4	1	3	1	2	4	2	3	2	4	0	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:31729252G>A	ENST00000375755.3	+	22	2327	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	MSH5_ENST00000431848.2_Missense_Mutation_p.D380N|MSH5_ENST00000534153.4_Missense_Mutation_p.D698N|MSH5_ENST00000375750.3_Missense_Mutation_p.D681N|SAPCD1_ENST00000415669.2_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.D698N|MSH5_ENST00000375740.3_Missense_Mutation_p.D699N|MSH5_ENST00000375742.3_Missense_Mutation_p.D698N|MSH5_ENST00000375703.3_Missense_Mutation_p.D682N|SAPCD1_ENST00000425424.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000395853.1_Missense_Mutation_p.D355N|MSH5-SAPCD1_ENST00000491552.1_3'UTR	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	681					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTTGCAGGTGGATGGGCTCGC	0.577								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwu.2																			0				breast(1)|ovary(2)|skin(2)	5						c.(2044-2046)Gat>Aat	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.							67	66	67					6																	31729252		2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31729252G>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2041G>A	6.37:g.31729252G>A	ENSP00000364908:p.Asp681Asn					MSH5_uc003nwx.2_Missense_Mutation_p.D699N|MSH5_uc003nwv.2_Missense_Mutation_p.D681N|MSH5_uc003nww.2_Missense_Mutation_p.D681N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|SAPCD1_uc003nwz.4_5'UTR	p.D682N	NM_172165	NP_751897	O43196	MSH5_HUMAN			21	2172	+			681					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.2044G>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396404	0.83011	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000429846;ENST00000491552	D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.4	5.4	0.78164	DNA mismatch repair protein MutS, C-terminal (3);	0.098210	0.64402	D	0.000002	D	0.96827	0.8964	H	0.96489	3.83	0.37476	D	0.915796	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.991;0.995;0.997;0.984;0.987	D	0.97493	1.0055	9	0.87932	D	0	-23.9334	16.7038	0.85366	0.0:0.0:1.0:0.0	.	366;699;681;682;698	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	N	681;698;213;681;698;682;699;380;355;19;67	ENSP00000364908:D681N;ENSP00000364894:D698N;ENSP00000364903:D681N;ENSP00000431693:D698N;ENSP00000364855:D682N;ENSP00000364892:D699N;ENSP00000416784:D380N;ENSP00000379194:D355N;ENSP00000406849:D19N	ENSP00000364855:D682N	D	+	1	0	MSH5;MSH5-C6orf26	31837231	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	7.444000	0.80532	2.809000	0.96659	0.655000	0.94253	GAT		0.577	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			A	31729252	G	A	31729252	3	1	139	1	0	0	0	0	1	0	0	0	9873	1174	41	3	2177	3	MSH5	6	31729252	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08		31729252	139385815	10	9498											
CD2AP	23607	broad.mit.edu	37	chr6	47547178	47547178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggtaaagaaggagtatttCcagacaattttgctgtccag	13	12	10	6	0	0	2	0	0	0	2	2	3	2	3	2	2	1	3	2	2	5	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:47547178C>T	ENST00000359314.5	+	9	1417	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	321	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGAGTATTTCCAGACAATTT	0.343																																						uc003oyw.3																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(961-963)Cca>Tca		Homo sapiens CD2-associated protein (CD2AP), mRNA.							104	107	106					6																	47547178		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47547178C>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.961C>T	6.37:g.47547178C>T	ENSP00000352264:p.Pro321Ser						p.P321S	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		8	1417	+			321			SH3 3.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.961C>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412660	0.83340	.	.	ENSG00000198087	ENST00000359314	D	0.90504	-2.68	5.47	4.6	0.57074	Src homology-3 domain (5);	0.050714	0.85682	N	0.000000	D	0.96719	0.8929	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97981	1.0349	10	0.87932	D	0	-9.1713	14.0795	0.64912	0.0:0.9278:0.0:0.0722	.	321	Q9Y5K6	CD2AP_HUMAN	S	321	ENSP00000352264:P321S	ENSP00000352264:P321S	P	+	1	0	CD2AP	47655137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	1.316000	0.45131	0.585000	0.79938	CCA		0.343	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			T	47547178	C	T	47547178	3	4	139	1	0	0	0	0	1	0	0	0	2994	855	30	3	995	3	CD2AP	6	47547178	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	15817926	47547178	123567889	11	9499											
EPHA7	2045	broad.mit.edu	37	chr6	94120318	94120318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagtgcatcctgggggCgttttccgcttcttcctctg	3	14	11	13	2	2	0	0	0	2	0	5	0	5	0	3	2	2	4	3	2	0	4	rs41273629	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:94120318C>T	ENST00000369303.4	-	3	917	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	EPHA7_ENST00000369297.1_Missense_Mutation_p.A245T	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	245	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCTGGGGGCGTTTTCCGCT	0.483													c|||	6	0.00119808	8e-04	0.0014	5008	,	,		18746	0		0	False		,,,				2504	0.0041					uc003poe.3																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(733-735)Gcc>Acc		Homo sapiens EPH receptor A7 (EPHA7), mRNA.		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	92	91	91		733	4.3	1	6	dbSNP_127	91	10,8590	7.7+/-29.5	0,10,4290	yes	missense	EPHA7	NM_004440.3	58	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	benign	245/999	94120318	12,12994	2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120318C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.733G>A	6.37:g.94120318C>T	ENSP00000358309:p.Ala245Thr					EPHA7_uc003pof.3_Missense_Mutation_p.A245T|EPHA7_uc011eac.2_Missense_Mutation_p.A245T|EPHA7_uc003pog.4_Missense_Mutation_p.A245T	p.A245T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	2	974	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	245			Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.733G>A	CCDS5031.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	10.57	1.386397	0.25031	4.54E-4	0.001163	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.71698	-0.59;4.42	5.46	4.3	0.51218	Growth factor, receptor (1);	0.053473	0.85682	D	0.000000	T	0.29256	0.0728	N	0.08118	0	0.28263	N	0.924721	B;B;B;B	0.16396	0.001;0.017;0.005;0.003	B;B;B;B	0.18263	0.002;0.021;0.005;0.002	T	0.11665	-1.0578	10	0.22706	T	0.39	.	13.048	0.58937	0.865:0.135:0.0:0.0	rs41273629	245;245;245;245	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	T	245	ENSP00000358309:A245T;ENSP00000358303:A245T	ENSP00000358303:A245T	A	-	1	0	EPHA7	94177039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.865000	0.69583	1.010000	0.39314	-0.259000	0.10710	GCC		0.483	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			T	94120318	C	T	94120318	3	4	139	1	0	0	0	0	1	0	0	0	5172	768	27	1	2323	1	EPHA7	6	94120318	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	46573140	94120318	76994749	12	9500											
CCDC129	223075	broad.mit.edu	37	chr7	31614260	31614260	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgcaaatcccagccagaTtccttggttgtggctcagca	9	10	10	12	0	1	1	1	0	0	1	3	1	3	1	3	2	3	5	3	2	1	3	rs370670531		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:31614260T>A	ENST00000407970.3	+	7	540	c.502T>A	c.(502-504)Ttc>Atc	p.F168I	CCDC129_ENST00000451887.2_Missense_Mutation_p.F194I|CCDC129_ENST00000409210.1_Missense_Mutation_p.F76I|CCDC129_ENST00000319386.3_Missense_Mutation_p.F168I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	168										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCAGCCAGATTCCTTGGTTG	0.478																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(580-582)Ttc>Atc		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							114	116	115					7																	31614260		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31614260T>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.502T>A	7.37:g.31614260T>A	ENSP00000384416:p.Phe168Ile					CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tcj.1_Missense_Mutation_p.F168I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	p.F194I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			6	592	+			168					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.580T>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	31	5.073780	0.94000	.	.	ENSG00000180347	ENST00000456011;ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T;T	0.67345	-0.26;0.32;0.42;0.39;0.19	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.81389	0.4812	M	0.74258	2.255	0.48830	D	0.999715	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.82016	-0.0666	9	.	.	.	0.7402	15.9039	0.79403	0.0:0.0:0.0:1.0	.	194;178;168;168	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	168;168;168;194;178;76	ENSP00000390544:F168I;ENSP00000313062:F168I;ENSP00000384416:F168I;ENSP00000395835:F194I;ENSP00000387214:F76I	.	F	+	1	0	CCDC129	31580785	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.538000	0.82048	2.158000	0.67659	0.460000	0.39030	TTC		0.478	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31614260	T	A	31614260	3	1	139	1	0	0	0	0	1	0	0	0	2764	1493	52	5	524	5	CCDC129	7	31614260	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		31614260	127524403	13	9501											
EGFR	1956	broad.mit.edu	37	chr7	55219021	55219021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctgtcccaatgggagCtgctggggtgcaggagagga	9	6	17	9	0	0	1	0	0	0	1	1	4	1	3	2	5	4	4	2	5	2	0	rs370376501		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55219021C>T	ENST00000275493.2	+	5	771	c.594C>T	c.(592-594)agC>agT	p.S198S	EGFR_ENST00000342916.3_Silent_p.S198S|EGFR_ENST00000420316.2_Silent_p.S198S|EGFR_ENST00000455089.1_Silent_p.S153S|EGFR_ENST00000442591.1_Silent_p.S198S|EGFR_ENST00000344576.2_Silent_p.S198S|EGFR_ENST00000454757.2_Silent_p.S145S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	198			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCAATGGGAGCTGCTGGGGTG	0.493		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(592-594)agC>agT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	C	,,,	0,4406		0,0,2203	142	143	143		594,594,594,594	4.2	1	7		143	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	198/1211,198/629,198/406,198/706	55219021	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55219021C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.594C>T	7.37:g.55219021C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Silent_p.S198S|EGFR_uc003tqi.3_Silent_p.S198S|EGFR_uc003tqj.3_Silent_p.S198S|EGFR_uc022adm.1_Silent_p.S198S|EGFR_uc010kzg.2_Silent_p.S153S|EGFR_uc022adn.1_Silent_p.S153S|EGFR_uc011kco.2_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	p.S198S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	840	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		198					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.594C>T	CCDS5514.1																																																																																				0.493	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55219021	C	T	55219021	2	4	139	1	0	0	0	0	0	0	0	1	4967	796	28	3		3	EGFR	7	55219021	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	23604761	55219021	103919642	14	9502											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	139	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	2801	55221822	103916841	15	9503											
SULF1	23213	broad.mit.edu	37	chr8	70488235	70488235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcatgaacaaaacgagaaAgattatggaacatggggggg	17	6	14	4	1	1	3	1	1	0	2	1	5	1	4	0	4	3	0	0	4	6	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:70488235A>C	ENST00000260128.4	+	6	920	c.203A>C	c.(202-204)aAg>aCg	p.K68T	SULF1_ENST00000458141.2_Missense_Mutation_p.K68T|SULF1_ENST00000419716.3_Missense_Mutation_p.K68T|SULF1_ENST00000402687.4_Missense_Mutation_p.K68T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	68					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAACGAGAAAGATTATGGAA	0.517																																						uc003xyg.2																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(202-204)aAg>aCg		Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.							87	73	78					8																	70488235		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488235A>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.203A>C	8.37:g.70488235A>C	ENSP00000260128:p.Lys68Thr					SULF1_uc010lza.1_Missense_Mutation_p.K68T|SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T	p.K68T	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		4	764	+	Breast(64;0.0654)		68					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.203A>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396487	0.42512	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000528783;ENST00000525999	D;D;D;D;D;T;D	0.96396	-4.0;-4.0;-3.39;-4.0;-4.0;0.8;-4.0	5.23	4.07	0.47477	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.198375	0.52532	D	0.000079	D	0.92841	0.7723	L	0.41236	1.265	0.41260	D	0.986775	B	0.16603	0.018	B	0.27796	0.083	D	0.88078	0.2805	10	0.45353	T	0.12	.	7.296	0.26393	0.7431:0.0:0.2569:0.0	.	68	Q8IWU6	SULF1_HUMAN	T	68	ENSP00000403040:K68T;ENSP00000260128:K68T;ENSP00000432178:K68T;ENSP00000385704:K68T;ENSP00000390315:K68T;ENSP00000436949:K68T;ENSP00000431753:K68T	ENSP00000260128:K68T	K	+	2	0	SULF1	70650789	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.627000	0.46469	0.841000	0.35020	0.528000	0.53228	AAG		0.517	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		C	70488235	A	C	70488235	3	2	139	1	0	0	0	0	1	0	0	0	15369	72	3	5	209	5	SULF1	8	70488235	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		70488235	75875787	16	9504											
ZNF251	90987	broad.mit.edu	37	chr8	145947815	145947815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaccaaaggctctgccGcattcattacatacataggg	14	10	7	10	1	2	0	1	0	1	0	2	0	2	0	2	2	4	2	2	2	6	5	rs369726950		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:145947815G>A	ENST00000292562.7	-	5	1505	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGGCTCTGCCGCATTCATTAC	0.443																																						uc003zdv.4																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1228-1230)tgC>tgT		Homo sapiens zinc finger protein 251 (ZNF251), mRNA.		G		0,4262		0,0,2131	104	116	112		1230	-0.4	0.9	8		112	1,8535		0,1,4267	no	coding-synonymous	ZNF251	NM_138367.1		0,1,6398	AA,AG,GG		0.0117,0.0,0.0078		410/672	145947815	1,12797	2131	4268	6399	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947815G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1230C>T	8.37:g.145947815G>A							p.C410C	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	4	1486	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		410					Q2M219	Silent	SNP	ENST00000292562.7	37	c.1230C>T	CCDS47944.1																																																																																				0.443	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		A	145947815	G	A	145947815	2	1	139	1	0	0	0	0	0	0	0	1	17793	1079	38	1		1	ZNF251	8	145947815	Silent	SNP	G	TCGA-14-1456-01B-01D-1494-08	75459580	145947815	416207	17	9505											
GABBR2	9568	broad.mit.edu	37	chr9	101052880	101052880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccttacaggcccgagaCcatgactcggaaggagggtg	10	5	13	13	2	0	2	0	1	0	1	1	5	0	4	4	4	1	0	4	4	2	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:101052880C>G	ENST00000259455.2	-	19	3271	c.2812G>C	c.(2812-2814)Gtc>Ctc	p.V938L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	938					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCCCGAGACCATGACTCGG	0.687																																						uc004ays.3																		NOTCH1_ENST00000277541/GABBR2(2)	0		p.V938V(1)		breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(2812-2814)Gtc>Ctc		Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	Baclofen(DB00181)						11	14	13					9																	101052880		2191	4282	6473	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101052880C>G	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2812G>C	9.37:g.101052880C>G	ENSP00000259455:p.Val938Leu						p.V938L	NM_005458	NP_005449	O75899	GABR2_HUMAN			18	3272	-		Acute lymphoblastic leukemia(62;0.0527)	938					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.2812G>C	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443556	0.96187	.	.	ENSG00000136928	ENST00000259455	T	0.80824	-1.42	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.85632	0.1271	10	0.87932	D	0	.	16.9581	0.86265	0.0:1.0:0.0:0.0	.	938	O75899	GABR2_HUMAN	L	938	ENSP00000259455:V938L	ENSP00000259455:V938L	V	-	1	0	GABBR2	100092701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.593000	0.87608	0.655000	0.94253	GTC		0.687	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			G	101052880	C	G	101052880	3	3	139	1	0	0	0	0	1	0	0	0	6156	507	18	5	17	5	GABBR2	9	101052880	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		101052880	40160551	18	9506											
FUT7	2529	broad.mit.edu	37	chr9	139925805	139925805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctcggaggtggctgaggCcgtgggtgtggctaggagac	5	8	20	8	2	0	2	0	1	0	1	1	4	0	3	2	7	1	2	2	7	1	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:139925805C>T	ENST00000314412.6	-	2	1404	c.386G>A	c.(385-387)gGc>gAc	p.G129D	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	129					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GTGGCTGAGGCCGTGGGTGTG	0.711																																						uc004ckq.2																			0				NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8						c.(385-387)gGc>gAc		Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.							18	20	19					9																	139925805		2185	4281	6466	SO:0001583	missense	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925805C>T	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"Fucosyltransferases"	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.386G>A	9.37:g.139925805C>T	ENSP00000318142:p.Gly129Asp					ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	p.G129D	NM_004479	NP_004470	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	1	1235	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	129					B2R7U7|Q6DK54	Missense_Mutation	SNP	ENST00000314412.6	37	c.386G>A	CCDS7022.1	.	.	.	.	.	.	.	.	.	.	c	6.572	0.473800	0.12521	.	.	ENSG00000180549	ENST00000314412	T	0.23552	1.9	4.74	4.74	0.60224	.	0.206043	0.42821	U	0.000659	T	0.16938	0.0407	N	0.10782	0.045	0.19945	N	0.999944	B	0.24043	0.096	B	0.36464	0.225	T	0.28681	-1.0036	10	0.27082	T	0.32	-17.2471	10.431	0.44407	0.0:0.9092:0.0:0.0908	.	129	Q11130	FUT7_HUMAN	D	129	ENSP00000318142:G129D	ENSP00000318142:G129D	G	-	2	0	FUT7	139045626	0.021000	0.18746	0.107000	0.21349	0.158000	0.22134	1.573000	0.36472	2.174000	0.68829	0.550000	0.68814	GGC		0.711	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		T	139925805	C	T	139925805	3	4	139	1	0	0	0	0	1	0	0	0	6109	739	26	3	646	3	FUT7	9	139925805	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	38872925	139925805	1287626	19	9507											
OGDHL	55753	broad.mit.edu	37	chr10	50959004	50959004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaaccgcttctctgaggaCcatttccgggccaggaagtc	9	8	10	14	2	1	1	0	1	1	0	4	3	2	3	5	3	1	1	5	3	2	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr10:50959004C>A	ENST00000374103.4	-	7	862	c.777G>T	c.(775-777)tgG>tgT	p.W259C	OGDHL_ENST00000432695.1_Missense_Mutation_p.W50C|OGDHL_ENST00000419399.1_Missense_Mutation_p.W202C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	259					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCTCTGAGGACCATTTCCGGG	0.562																																						uc009xog.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(856-858)tgG>tgT		Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							69	57	61					10																	50959004		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50959004C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.777G>T	10.37:g.50959004C>A	ENSP00000363216:p.Trp259Cys					OGDHL_uc001jie.3_Missense_Mutation_p.W259C|OGDHL_uc010qgt.2_Missense_Mutation_p.W202C|OGDHL_uc010qgu.2_Missense_Mutation_p.W50C|OGDHL_uc009xoh.2_Missense_Mutation_p.W50C	p.W286C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN			5	892	-			259					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.858G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769624	0.90020	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95918	-3.85;-3.85;-3.85	6.03	6.03	0.97812	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79108	0.981;0.967;0.992	D	0.98391	1.0563	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	202;50;259	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	259;202;50	ENSP00000363216:W259C;ENSP00000401356:W202C;ENSP00000390240:W50C	ENSP00000363216:W259C	W	-	3	0	OGDHL	50629010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.574000	0.82434	2.854000	0.98071	0.655000	0.94253	TGG		0.562	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		A	50959004	C	A	50959004	3	1	139	1	0	0	0	0	1	0	0	0	10840	508	18	5	2323	5	OGDHL	10	50959004	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		50959004	84575743	20	9508											
CYSLTR2	57105	broad.mit.edu	37	chr13	49280992	49280992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcaaccatccatctcCgtatcagaaatggaaccaaa	14	9	5	13	1	2	1	1	0	1	1	5	2	4	2	5	1	3	2	5	1	5	2	rs201922826		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr13:49280992C>T	ENST00000282018.3	+	1	42	c.39C>T	c.(37-39)tcC>tcT	p.S13S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	13					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CATCCATCTCCGTATCAGAAA	0.373																																						uc010acw.1																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(37-39)tcC>tcT		Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	Nedocromil(DB00716)						77	81	80					13																	49280992		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49280992C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.39C>T	13.37:g.49280992C>T						CYSLTR2_uc010acx.1_Silent_p.S13S|CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S|CYSLTR2_uc021rjl.1_Silent_p.S13S	p.S13S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	329	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	13					Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.39C>T	CCDS9412.1																																																																																				0.373	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			T	49280992	C	T	49280992	2	4	139	1	0	0	0	0	0	0	0	1	4202	639	23	2		2	CYSLTR2	13	49280992	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08		49280992	65888886	21	9509											
SLC27A2	11001	broad.mit.edu	37	chr15	50515253	50515253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcaagagatttggggAcatatgcatctatgagttct	11	15	10	5	0	3	2	1	1	2	1	3	4	3	3	0	2	1	2	0	2	3	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:50515253A>G	ENST00000267842.5	+	5	1296	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	Y_RNA_ENST00000363735.1_RNA|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D120G|SLC27A2_ENST00000380902.4_Missense_Mutation_p.D302G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	355					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGATTTGGGGACATATGCATC	0.428																																						uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1063-1065)gAc>gGc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							183	166	172					15																	50515253		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50515253A>G	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1064A>G	15.37:g.50515253A>G	ENSP00000267842:p.Asp355Gly					SLC27A2_uc010bes.3_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.3_Missense_Mutation_p.D120G	p.D355G	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1296	+		all_lung(180;0.00177)	355					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1064A>G	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064520	0.55432	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.44881	0.91;1.1;1.1	5.93	5.93	0.95920	AMP-dependent synthetase/ligase (1);	0.419817	0.28360	N	0.015632	T	0.47637	0.1456	M	0.71581	2.175	0.50171	D	0.999855	P;P	0.47191	0.697;0.891	B;B	0.44044	0.326;0.439	T	0.48352	-0.9043	10	0.38643	T	0.18	.	14.3464	0.66668	1.0:0.0:0.0:0.0	.	302;355	Q6PF09;O14975	.;S27A2_HUMAN	G	302;355;120	ENSP00000370289:D302G;ENSP00000267842:D355G;ENSP00000444549:D120G	ENSP00000267842:D355G	D	+	2	0	SLC27A2	48302545	0.998000	0.40836	0.917000	0.36280	0.137000	0.21094	3.846000	0.55888	2.281000	0.76405	0.533000	0.62120	GAC		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		G	50515253	A	G	50515253	3	3	139	1	0	0	0	0	1	0	0	0	14526	275	10	4	1082	4	SLC27A2	15	50515253	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		50515253	52016139	22	9510											
SEC11A	23478	broad.mit.edu	37	chr15	85234816	85234816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttattaccattaacccCttccagatcattagtgccga	11	12	5	13	1	1	1	1	0	0	1	2	2	2	1	6	0	3	1	6	0	4	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:85234816C>T	ENST00000268220.7	-	2	751	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SEC11A_ENST00000455959.3_Silent_p.K11K|SEC11A_ENST00000558134.1_Silent_p.K37K|SEC11A_ENST00000560266.1_Silent_p.K37K	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CCATTAACCCCTTCCAGATCA	0.408																																						uc002blb.1																			0				ovary(1)	1						c.(109-111)aaG>aaA		Homo sapiens SEC11 homolog A (S. cerevisiae) (SEC11A), mRNA.							106	98	101					15																	85234816		1893	4123	6016	SO:0001819	synonymous_variant	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85234816C>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.111G>A	15.37:g.85234816C>T						SEC11A_uc002blc.1_Silent_p.K11K	p.K37K	NM_014300	NP_055115	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		1	479	-			37					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	c.111G>A	CCDS45340.1																																																																																				0.408	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		T	85234816	C	T	85234816	2	4	139	1	0	0	0	0	0	0	0	1	13978	680	24	3		3	SEC11A	15	85234816	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	34719563	85234816	17296576	23	9511											
C16orf54	283897	broad.mit.edu	37	chr16	29755735	29755735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctcccaaactggaCgctggcctctggcctctgct	4	9	13	15	1	2	0	0	0	2	0	3	1	3	1	3	5	2	3	3	5	1	0	rs199652256	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:29755735C>T	ENST00000329410.3	-	2	633	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	180						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAAACTGGACGCTGGCCTCT	0.711																																						uc002dtp.2																			0				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(538-540)Gtc>Atc		Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.							5	7	6					16																	29755735		2116	4223	6339	SO:0001583	missense	283897					integral to membrane		g.chr16:29755735C>T	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.538G>A	16.37:g.29755735C>T	ENSP00000327506:p.Val180Ile					BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	p.V180I	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN			1	647	-			180					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.538G>A	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	C	2.444	-0.327991	0.05314	.	.	ENSG00000185905	ENST00000329410	.	.	.	5.22	-8.5	0.00927	.	3.565590	0.01530	U	0.018753	T	0.16938	0.0407	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11842	-1.0571	9	0.46703	T	0.11	1.8127	2.2093	0.03944	0.2221:0.1706:0.1051:0.5022	.	180	Q6UWD8	CP054_HUMAN	I	180	.	ENSP00000327506:V180I	V	-	1	0	C16orf54	29663236	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.043000	0.00631	-1.267000	0.02443	0.313000	0.20887	GTC		0.711	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		T	29755735	C	T	29755735	3	4	139	1	0	0	0	0	1	0	0	0	1819	536	19	1	140	1	C16orf54	16	29755735	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		29755735	60599018	24	9512											
PKD1L2	114780	broad.mit.edu	37	chr16	81211460	81211460	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccagggctgtggaggCgttgcagaagatggcaaagc	9	6	18	8	1	0	2	0	0	0	2	1	3	1	3	1	5	2	4	1	5	2	1	rs370023428		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:81211460C>T	ENST00000527937.1	-	0	319				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTGTGGAGGCGTTGCAGAAG	0.592																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2389-2391)Gcc>Acc		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA	0,4072		0,0,2036	88	93	91		2389,2389	-7.5	0	16		91	1,8363		0,1,4181	no	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	58,58	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	benign,benign	797/992,797/2460	81211460	1,12435	2036	4182	6218			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81211460C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81211460C>T						PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.3_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	p.A797T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			13	2389	-			797			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37	c.2389G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.017|0.017	-1.490576|-1.490576	0.01018|0.01018	0.0|0.0	1.2E-4|1.2E-4	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114|ENST00000526632	T;T|.	0.69561|.	-0.41;-0.41|.	4.89|4.89	-7.47|-7.47	0.01365|0.01365	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.868013|.	0.10134|.	N|.	0.711723|.	T|T	0.40272|0.40272	0.1110|0.1110	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.41034|0.41034	-0.9531|-0.9531	9|4	0.06365|.	T|.	0.9|.	-0.5638|-0.5638	15.8187|15.8187	0.78624|0.78624	0.0:0.1412:0.0:0.8588|0.0:0.1412:0.0:0.8588	.|.	797;797|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	T|H	112;797|324	ENSP00000436309:A112T;ENSP00000337397:A797T|.	ENSP00000337397:A797T|.	A|R	-|-	1|2	0|0	PKD1L2|PKD1L2	79768961|79768961	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.102000|0.102000	0.19082|0.19082	-0.882000|-0.882000	0.04174|0.04174	-1.419000|-1.419000	0.02012|0.02012	-0.272000|-0.272000	0.10252|0.10252	GCC|CGC		0.592	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			T	81211460	C	T	81211460	1	4	139	0	1	0	0	0	0	0	0	0	11965	768	27	1		1	PKD1L2	16	81211460	RNA	SNP	C	TCGA-14-1456-01B-01D-1494-08	51455725	81211460	9143293	25	9513											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	p.Y220C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	139	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		7578190	73617020	26	9514											
KCTD2	23510	broad.mit.edu	37	chr17	73043590	73043590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgaacgtgggaggcacctActtcgtgaccaccagacaga	11	6	12	12	2	0	4	0	2	0	2	1	5	0	5	3	2	2	2	3	2	2	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:73043590A>G	ENST00000322444.6	+	1	251	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_5'Flank|ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	82	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GGAGGCACCTACTTCGTGACC	0.711																																						uc002jmp.3																			0				kidney(1)|lung(2)	3						c.(244-246)tAc>tGc		Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.							25	26	26					17																	73043590		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73043590A>G	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.245A>G	17.37:g.73043590A>G	ENSP00000312814:p.Tyr82Cys					KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.3_Non-coding_Transcript	p.Y82C	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			0	312	+	all_lung(278;0.226)		82			BTB.			Missense_Mutation	SNP	ENST00000322444.6	37	c.245A>G	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180201	0.57800	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.43294	0.95	4.23	3.04	0.35103	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.36672	1.1	0.58432	D	0.999999	B	0.25955	0.138	B	0.31751	0.135	T	0.18555	-1.0333	10	0.41790	T	0.15	.	9.4274	0.38588	0.8408:0.0:0.0:0.1591	.	82	Q14681	KCTD2_HUMAN	C	82;64	ENSP00000312814:Y82C	ENSP00000312814:Y82C	Y	+	2	0	KCTD2	70555185	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.430000	0.52807	1.670000	0.50864	0.443000	0.29094	TAC		0.711	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			G	73043590	A	G	73043590	3	3	139	1	0	0	0	0	1	0	0	0	8107	391	14	4	247	4	KCTD2	17	73043590	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08	65465400	73043590	8151620	27	9515											
CHD6	84181	broad.mit.edu	37	chr20	40049780	40049780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtttcttttggagtcaCagacactaagactgcacata	13	11	8	9	0	2	2	1	0	1	2	2	3	2	3	0	2	1	2	0	2	2	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:40049780C>T	ENST00000373233.3	-	31	5672	c.5495G>A	c.(5494-5496)tGt>tAt	p.C1832Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1832					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGGAGTCACAGACACTAAG	0.388																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5494-5496)tGt>tAt		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							121	134	129					20																	40049780		2202	4300	6502	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049780C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5495G>A	20.37:g.40049780C>T	ENSP00000362330:p.Cys1832Tyr						p.C1832Y	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			30	5673	-		Myeloproliferative disorder(115;0.00425)	1832					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5495G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	5.418	0.262234	0.10239	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.82	2.83	0.33086	.	0.192589	0.37715	N	0.001980	T	0.66509	0.2796	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54853	-0.8231	10	0.02654	T	1	-0.5652	4.9821	0.14170	0.0:0.5264:0.1432:0.3304	.	1832	Q8TD26	CHD6_HUMAN	Y	1832	ENSP00000362330:C1832Y	ENSP00000362330:C1832Y	C	-	2	0	CHD6	39483194	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	0.223000	0.17719	0.368000	0.24481	0.655000	0.94253	TGT		0.388	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40049780	C	T	40049780	3	4	139	1	0	0	0	0	1	0	0	0	3329	478	17	3	2680	3	CHD6	20	40049780	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		40049780	22975740	28	9516											
PREX1	57580	broad.mit.edu	37	chr20	47267957	47267957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgaggccgaagcagcCgcggggctccacgatcttct	6	6	16	13	5	2	1	0	1	2	0	3	3	3	1	3	5	2	2	3	5	1	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:47267957C>T	ENST00000371941.3	-	22	2654	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	PREX1_ENST00000396220.1_Missense_Mutation_p.G878S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	878					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGAAGCAGCCGCGGGGCTCC	0.607																																						uc002xtw.1																			0		p.R877R(1)|p.R877L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2632-2634)Ggc>Agc		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							48	42	44					20																	47267957		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47267957C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2632G>A	20.37:g.47267957C>T	ENSP00000361009:p.Gly878Ser					PREX1_uc002xtv.1_Missense_Mutation_p.G175S	p.G878S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		21	2655	-			878					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2632G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501514	0.96371	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66280	-0.2;-0.2	4.71	4.71	0.59529	.	0.000000	0.56097	U	0.000033	T	0.78502	0.4293	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80070	-0.1536	10	0.49607	T	0.09	.	17.6886	0.88263	0.0:1.0:0.0:0.0	.	878;175	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	S	878	ENSP00000361009:G878S;ENSP00000379522:G878S	ENSP00000361009:G878S	G	-	1	0	PREX1	46701364	1.000000	0.71417	0.970000	0.41538	0.975000	0.68041	7.759000	0.85235	2.152000	0.67230	0.563000	0.77884	GGC		0.607	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47267957	C	T	47267957	3	4	139	1	0	0	0	0	1	0	0	0	12476	652	23	2	2423	2	PREX1	20	47267957	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	7218177	47267957	15757563	29	9517											
FOXR2	139628	broad.mit.edu	37	chrX	55650997	55650997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgcttttgggaggagactCgtgtcttagcctttgctcaa	6	13	12	10	2	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	2	4			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:55650997C>T	ENST00000339140.3	+	1	1165	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	285					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGGAGACTCGTGTCTTAGC	0.502																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(853-855)Cgt>Tgt		Homo sapiens forkhead box R2 (FOXR2), mRNA.							118	95	103					X																	55650997		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650997C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.853C>T	X.37:g.55650997C>T	ENSP00000427329:p.Arg285Cys						p.R285C	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	1165	+			285						Missense_Mutation	SNP	ENST00000339140.3	37	c.853C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416519	0.42918	.	.	ENSG00000189299	ENST00000339140	D	0.95724	-3.79	3.33	2.46	0.29980	Transcription factor, fork head (1);	100.696000	0.05135	U	0.493204	D	0.95611	0.8573	M	0.77103	2.36	0.09310	N	0.999996	D	0.60160	0.987	P	0.46850	0.529	D	0.86348	0.1709	10	0.66056	D	0.02	.	8.0577	0.30614	0.0:0.87:0.0:0.13	.	285	Q6PJQ5	FOXR2_HUMAN	C	285	ENSP00000427329:R285C	ENSP00000427329:R285C	R	+	1	0	FOXR2	55667722	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	2.304000	0.43655	0.790000	0.33803	0.600000	0.82982	CGT		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		T	55650997	C	T	55650997	3	4	139	1	0	0	0	0	1	0	0	0	6032	884	31	2	855	2	FOXR2	23	55650997	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		55650997	99619563	30	9518											
ATRX	546	broad.mit.edu	37	chrX	76872118	76872118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtactgatagagcttgcaCtgaatagaagtcattctcac	13	12	8	8	0	2	4	2	2	1	2	3	4	2	4	0	0	3	3	0	0	6	6			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:76872118C>G	ENST00000373344.5	-	22	5743	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q1805H	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1843					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGAGCTTGCACTGAATAGAAG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5527-5529)caG>caC		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						136	123	127					X																	76872118		2202	4292	6494	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872118C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5529G>C	X.37:g.76872118C>G	ENSP00000362441:p.Gln1843His					ATRX_uc004ecq.4_Missense_Mutation_p.Q1805H|ATRX_uc004eco.4_Missense_Mutation_p.Q1628H	p.Q1843H	NM_000489	NP_000480	P46100	ATRX_HUMAN			21	5761	-			1843					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5529G>C	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.58|19.58	3.854201|3.854201	0.71719|0.71719	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.93906|.	-3.31;-3.31|.	5.47|5.47	3.7|3.7	0.42460|0.42460	SNF2-related (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.86764|0.86764	0.6011|0.6011	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.998;0.999|.	D|D	0.88864|0.88864	0.3328|0.3328	10|5	0.87932|.	D|.	0|.	-5.5772|-5.5772	11.6823|11.6823	0.51466|0.51466	0.0:0.8516:0.0:0.1484|0.0:0.8516:0.0:0.1484	.|.	1805;1843|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	H|T	1843;1805|132	ENSP00000362441:Q1843H;ENSP00000378967:Q1805H|.	ENSP00000362441:Q1843H|.	Q|S	-|-	3|2	2|0	ATRX|ATRX	76758774|76758774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.048000|3.048000	0.49862|0.49862	0.598000|0.598000	0.29829|0.29829	0.544000|0.544000	0.68410|0.68410	CAG|AGT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		G	76872118	C	G	76872118	3	3	139	1	0	0	0	0	1	0	0	0	1208	564	20	5	2005	5	ATRX	23	76872118	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	21221121	76872118	78398442	31	9519											
TBX22	50945	broad.mit.edu	37	chrX	79282295	79282295	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagattcagtccttgccCactgaaggtgttaaaacatt	11	12	7	11	0	1	2	1	1	0	1	3	2	3	2	3	1	2	1	3	1	3	4			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:79282295C>A	ENST00000373294.5	+	5	754	c.726C>A	c.(724-726)ccC>ccA	p.P242P	TBX22_ENST00000373296.3_Silent_p.P242P|TBX22_ENST00000442340.1_Silent_p.P122P|TBX22_ENST00000373291.1_Silent_p.P122P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	242					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCTTGCCCACTGAAGGTG	0.463																																						uc010nmg.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(724-726)ccC>ccA		Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.							143	109	121					X																	79282295		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282295C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.726C>A	X.37:g.79282295C>A						TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	p.P242P	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN			5	860	+			242					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.726C>A	CCDS14445.1																																																																																				0.463	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		A	79282295	C	A	79282295	2	1	139	1	0	0	0	0	0	0	0	1	15655	581	21	5		5	TBX22	23	79282295	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	2410177	79282295	75988265	32	9520											
LOC440563	0	broad.mit.edu	37	chr1	13183032	13183032	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgctgtctctgttatcctCtccttcctcagcatcttttt	3	19	6	13	0	4	0	1	0	3	0	8	0	6	0	3	1	2	3	3	1	1	4	rs55971446	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:13183032C>T								RP13-221M14.3 (18564 upstream) : PRAMEF26 (33323 downstream)																							CTGTTATCCTCTCCTTCCTCA	0.443													.|||	49	0.00978435	0.003	0.0173	5008	,	,		20163	0		0.0318	False		,,,				2504	0.001					uc010obg.2																			0											c.(841-843)Gag>Aag		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.		C	LYS/GLU	9,1373		1,7,683	169	134	145		841	0.2	0	1	dbSNP_129	145	117,3065		2,113,1476	yes	missense	LOC440563	NM_001136561.2	56	3,120,2159	TT,TC,CC		3.6769,0.6512,2.7607	probably-damaging	281/294	13183032	126,4438	691	1591	2282	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183032C>T																													1.37:g.13183032C>T							p.E281K	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	1084	-			281						Missense_Mutation	SNP		37	c.841G>A																																																																																				0	0.443									T	13183032	C	T	13183032	1	4	140	0	1	0	0	0	0	0	0	0	8879	922	32	3		3	LOC440563	1	13183032	IGR	SNP	C	TCGA-14-1823-01A-01W-0643-08		13183032	236067589	1	9521											
PADI6	353238	broad.mit.edu	37	chr1	17721458	17721458	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctagcgcagagggccGggccatgagtaagaccctcc	8	7	12	14	2	1	3	0	1	1	2	3	3	3	3	5	2	1	2	5	2	2	3	rs375910439		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:17721458G>A	ENST00000434762.2	+	0	1400							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGAGGGCCGGGCCATGAGT	0.602																																						uc001bak.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29						c.(1348-1350)cGg>cAg		Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	L-Citrulline(DB00155)	G	GLN/ARG	1,4153		0,1,2076	35	38	37		1350	4.2	1	1		37	0,8494		0,0,4247	no	missense	PADI6	NM_207421.3	43	0,1,6323	AA,AG,GG		0.0,0.0241,0.0079	probably-damaging	450/695	17721458	1,12647	2077	4247	6324			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721458G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721458G>A							p.R450Q	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1349	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	442					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.1349G>A																																																																																					0.602	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		A	17721458	G	A	17721458	1	1	140	0	1	0	0	0	0	0	0	0	11381	1116	39	2		2	PADI6	1	17721458	RNA	SNP	G	TCGA-14-1823-01A-01W-0643-08	4538426	17721458	231529163	2	9522											
KIAA0090	23065	broad.mit.edu	37	chr1	19546124	19546124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcattcgagaaactgtcTggttatagttgatgaatcgc	10	13	10	8	3	1	3	0	2	1	1	4	4	1	3	0	1	1	3	0	1	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:19546124T>C	ENST00000477853.1	-	22	2783	c.2741A>G	c.(2740-2742)cAg>cGg	p.Q914R	EMC1_ENST00000375208.3_Missense_Mutation_p.Q892R|EMC1_ENST00000375199.3_Missense_Mutation_p.Q913R|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'UTR	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	914						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGAAACTGTCTGGTTATAGTT	0.507																																						uc001bbo.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2740-2742)cAg>cGg		Homo sapiens KIAA0090 (KIAA0090), mRNA.							126	109	115					1																	19546124		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19546124T>C		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2741A>G	1.37:g.19546124T>C	ENSP00000420608:p.Gln914Arg					KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.3_Missense_Mutation_p.Q892R	p.Q914R	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	21	2784	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	914			DUF1620.		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2741A>G	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.009845|5.009845	0.93346|0.93346	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000486405	T;T;T|.	0.23147|.	1.93;1.93;1.92|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Domain of unknown function DUF1620 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58736|0.58736	0.2143|0.2143	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.999|.	D;D;D;D|.	0.83275|.	0.971;0.981;0.994;0.996|.	T|T	0.59830|0.59830	-0.7380|-0.7380	10|6	0.07175|0.51188	T|T	0.84|0.08	.|.	15.6301|15.6301	0.76899|0.76899	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	892;913;913;914|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	R|G	914;913;892|137	ENSP00000420608:Q914R;ENSP00000364345:Q913R;ENSP00000364354:Q892R|.	ENSP00000364345:Q913R|ENSP00000419345:R137G	Q|R	-|-	2|1	0|2	KIAA0090|KIAA0090	19418711|19418711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.646000|7.646000	0.83445|0.83445	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAG|AGA		0.507	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		C	19546124	T	C	19546124	3	2	140	1	0	0	0	0	1	0	0	0	8153	1580	55	4	248	4	KIAA0090	1	19546124	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	1824666	19546124	229704497	3	9523											
KIF17	57576	broad.mit.edu	37	chr1	20992723	20992723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaggctcttcctggcGtctgtgctgaggatctggct	4	13	13	11	1	4	2	1	2	3	0	5	3	5	3	1	4	1	3	1	4	0	1	rs528089648		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:20992723G>A	ENST00000247986.2	-	14	3205	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_ENST00000400463.3_Silent_p.D964D|KIF17_ENST00000375044.1_Silent_p.D865D|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	965					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													G|||	1	0.000199681	0	0	5008	,	,		18274	0		0	False		,,,				2504	0.001					uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2893-2895)gaC>gaT		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.							176	148	157					1																	20992723		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20992723G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2895C>T	1.37:g.20992723G>A						KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	p.D965D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	13	3013	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	965					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2895C>T	CCDS213.1																																																																																				0.577	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	20992723	G	A	20992723	2	1	140	1	0	0	0	0	0	0	0	1	8279	1136	40	1		1	KIF17	1	20992723	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	1446599	20992723	228257898	4	9524											
NR0B2	8431	broad.mit.edu	37	chr1	27240176	27240176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaccctgcagcagccGccgctggtcctggggaggca	7	4	14	16	2	0	0	0	0	0	0	1	1	1	1	5	4	5	5	5	4	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:27240176G>A	ENST00000254227.3	-	1	281	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	86	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCAGCCGCCGCTGGTCC	0.642																																						uc001bnf.3																			0				NS(1)|large_intestine(1)|lung(3)	5						c.(256-258)Cgg>Tgg		Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.							14	18	16					1																	27240176		2183	4292	6475	SO:0001583	missense	8431				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	g.chr1:27240176G>A	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"Nuclear hormone receptors"	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.256C>T	1.37:g.27240176G>A	ENSP00000254227:p.Arg86Trp					BC016143_uc021ojq.1_Intron	p.R86W	NM_021969	NP_068804	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	0	392	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	86			Ligand-binding (By similarity).		F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	37	c.256C>T	CCDS291.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496316	0.44352	.	.	ENSG00000131910	ENST00000254227	D	0.84442	-1.85	5.48	3.61	0.41365	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.835029	0.11159	N	0.593257	T	0.81564	0.4849	L	0.42245	1.32	0.09310	N	1	D	0.58620	0.983	B	0.43360	0.417	T	0.69548	-0.5116	10	0.59425	D	0.04	-21.7632	11.5523	0.50726	0.1443:0.0:0.8557:0.0	.	86	Q15466	NR0B2_HUMAN	W	86	ENSP00000254227:R86W	ENSP00000254227:R86W	R	-	1	2	NR0B2	27112763	0.003000	0.15002	0.511000	0.27724	0.810000	0.45777	1.455000	0.35190	0.683000	0.31428	0.561000	0.74099	CGG		0.642	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			A	27240176	G	A	27240176	3	1	140	1	0	0	0	0	1	0	0	0	10614	1086	38	1	525	1	NR0B2	1	27240176	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	6247453	27240176	222010445	5	9525											
TNR	7143	broad.mit.edu	37	chr1	175372637	175372637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccggctggagcaacccagCgggcagtagggctccgagca	8	3	15	15	3	0	0	0	0	0	0	1	2	1	1	4	4	4	6	4	4	2	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:175372637C>T	ENST00000367674.2	-	4	1323	c.615G>A	c.(613-615)ccG>ccA	p.P205P	TNR_ENST00000263525.2_Silent_p.P205P			Q92752	TENR_HUMAN	tenascin R	205	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAACCCAGCGGGCAGTAGG	0.597																																						uc001gkp.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(613-615)ccG>ccA		Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.							92	99	97					1																	175372637		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372637C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.615G>A	1.37:g.175372637C>T						TNR_uc009wwu.1_Silent_p.P205P|TNR_uc010pmz.1_Silent_p.P205P	p.P205P	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	696	-	Renal(580;0.146)		205			Cys-rich.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.615G>A	CCDS1318.1																																																																																				0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175372637	C	T	175372637	2	4	140	1	0	0	0	0	0	0	0	1	16335	755	27	1		1	TNR	1	175372637	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	148132461	175372637	73877984	6	9526											
CFHR4	3080	broad.mit.edu	37	chr1	196871608	196871608	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatattataagagtttgcGtagactatactttccagcag	12	15	7	7	1	1	2	0	0	1	2	2	2	2	2	1	0	3	3	1	0	7	9	rs200977143		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:196871608G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.R40H|CFHR4_ENST00000367418.2_Missense_Mutation_p.R40H|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.R39H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AAGAGTTTGCGTAGACTATAC	0.323													G|||	1	0.000199681	8e-04	0	5008	,	,		15898	0		0	False		,,,				2504	0					uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(118-120)cGt>cAt		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3943		0,1,1971	124	128	127		119,116,119	-3.9	0	1		127	6,8408		0,6,4201	yes	missense,missense,missense	CFHR4	NM_001201550.2,NM_001201551.1,NM_006684.4	29,29,29	0,7,6172	AA,AG,GG		0.0713,0.0254,0.0566	probably-damaging,probably-damaging,probably-damaging	40/579,39/578,40/332	196871608	7,12351	1972	4207	6179	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196871608G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46977G>A	1.37:g.196871608G>A						CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.R39H|CFH_uc001gto.3_Missense_Mutation_p.R40H	p.R40H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			1	256	+			341			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.119G>A		.	.	.	.	.	.	.	.	.	.	.	7.683	0.689350	0.14973	2.54E-4	7.13E-4	ENSG00000134365	ENST00000367416;ENST00000251424;ENST00000538553	T;T	0.39056	1.3;1.1	3.41	-3.88	0.04205	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.51041	0.1651	M	0.65975	2.015	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.75020	0.985;0.977;0.833	T	0.43829	-0.9367	9	0.44086	T	0.13	.	3.1543	0.06499	0.2712:0.0:0.3672:0.3616	.	39;40;40	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	39;40;40	ENSP00000356386:R39H;ENSP00000251424:R40H	ENSP00000251424:R40H	R	+	2	0	CFHR4	195138231	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.144000	0.10280	-0.675000	0.05246	-0.484000	0.04775	CGT		0.323	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		A	196871608	G	A	196871608	1	1	140	0	1	0	0	0	0	0	0	0	3287	1145	40	1		1	CFHR4	1	196871608	Intron	SNP	G	TCGA-14-1823-01A-01W-0643-08	21498971	196871608	52379013	7	9527											
RGPD3	653489	broad.mit.edu	37	chr2	107049596	107049596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggtgatagtgaatatttgGtaggagatggtgtagaatgt	11	15	15	0	0	0	4	0	2	0	2	0	5	0	4	0	4	0	2	0	4	6	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:107049596G>C	ENST00000409886.3	-	16	2438	c.2351C>G	c.(2350-2352)aCc>aGc	p.T784S	RGPD3_ENST00000304514.7_Missense_Mutation_p.T784S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	784					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAATATTTGGTAGGAGATGG	0.338																																						uc010ywi.1																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2350-2352)aCc>aGc		Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.							4	6	6					2																	107049596		625	1422	2047	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049596G>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2351C>G	2.37:g.107049596G>C	ENSP00000386588:p.Thr784Ser						p.T784S	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			15	2408	-			784					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2351C>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.026	-1.374339	0.01214	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.21031	2.03;2.03	2.34	1.39	0.22231	.	.	.	.	.	T	0.16128	0.0388	L	0.46157	1.445	0.23095	N	0.998303	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	9	0.13108	T	0.6	-5.5069	8.5519	0.33458	0.0:0.2418:0.7582:0.0	.	784	A6NKT7	RGPD3_HUMAN	S	784;542;784	ENSP00000386588:T784S;ENSP00000303659:T784S	ENSP00000303659:T784S	T	-	2	0	RGPD3	106416028	0.996000	0.38824	0.855000	0.33649	0.049000	0.14656	3.093000	0.50217	0.284000	0.22305	0.173000	0.16961	ACC		0.338	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		C	107049596	G	C	107049596	3	2	140	1	0	0	0	0	1	0	0	0	13287	1261	44	5	2957	5	RGPD3	2	107049596	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		107049596	136149777	8	9528											
CNTNAP5	129684	broad.mit.edu	37	chr2	125405459	125405459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggaacagctggaggcCgtgatcgacggctctgagca	10	6	15	10	3	1	2	0	2	1	0	2	5	1	4	1	4	4	4	1	4	1	0	rs368582483		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:125405459C>T	ENST00000431078.1	+	13	2362	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	666	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCTGGAGGCCGTGATCGACG	0.622																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1999-2001)gcC>gcT		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.		C		0,4218		0,0,2109	33	37	36		1998	-9.4	0	2		36	2,8420		0,2,4209	no	coding-synonymous	CNTNAP5	NM_130773.2		0,2,6318	TT,TC,CC		0.0237,0.0,0.0158		666/1307	125405459	2,12638	2109	4211	6320	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405459C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1998C>T	2.37:g.125405459C>T						CNTNAP5_uc002tno.3_Silent_p.A666A	p.A667A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2365	+			666			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2001C>T	CCDS46401.1																																																																																				0.622	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125405459	C	T	125405459	2	4	140	1	0	0	0	0	0	0	0	1	3650	639	23	2		2	CNTNAP5	2	125405459	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	18355863	125405459	117793914	9	9529											
THSD7B	80731	broad.mit.edu	37	chr2	138033556	138033556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctggcagggaataacGggcagcagtgaagcctgtgg	9	8	16	8	1	2	1	0	1	2	0	2	2	2	2	1	4	3	3	1	4	3	1	rs369821530		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:138033556G>A	ENST00000409968.1	+	12	2638	c.2460G>A	c.(2458-2460)acG>acA	p.T820T	THSD7B_ENST00000272643.3_Silent_p.T820T|THSD7B_ENST00000413152.2_Silent_p.T789T|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	820	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGAATAACGGGCAGCAGTG	0.398																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2365-2367)acG>acA		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							90	99	96					2																	138033556		1885	4109	5994	SO:0001819	synonymous_variant	80731							g.chr2:138033556G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2460G>A	2.37:g.138033556G>A						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T679T	p.T789T	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	10	2367	+									Silent	SNP	ENST00000409968.1	37	c.2367G>A																																																																																					0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138033556	G	A	138033556	2	1	140	1	0	0	0	0	0	0	0	1	15877	1103	39	2		2	THSD7B	2	138033556	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	12628097	138033556	105165817	10	9530											
NEB	4703	broad.mit.edu	37	chr2	152425820	152425820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtttggcatgattgaCggacacggagtcatttggca	9	11	14	7	2	1	2	1	2	0	0	1	4	1	4	0	5	0	4	0	5	0	3	rs149881695	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:152425820C>T	ENST00000172853.10	-	82	12541	c.12394G>A	c.(12394-12396)Gtc>Atc	p.V4132I	NEB_ENST00000397345.3_Missense_Mutation_p.V5833I|NEB_ENST00000604864.1_Missense_Mutation_p.V5833I|NEB_ENST00000427231.2_Missense_Mutation_p.V5833I|NEB_ENST00000409198.1_Missense_Mutation_p.V4132I|NEB_ENST00000603639.1_Missense_Mutation_p.V5833I			P20929	NEBU_HUMAN	nebulin	4132					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATGATTGACGGACACGGAG	0.458													C|||	7	0.00139776	0	0	5008	,	,		20153	0		0.004	False		,,,				2504	0.0031					uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(12394-12396)Gtc>Atc		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4002		0,2,2000	117	119	118		17497,17497,12394	6.1	1	2	dbSNP_134	118	18,8320		0,18,4151	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,20,6151	TT,TC,CC		0.2159,0.05,0.162	possibly-damaging,possibly-damaging,possibly-damaging	5833/8526,5833/8526,4132/6670	152425820	20,12322	2002	4169	6171	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152425820C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12394G>A	2.37:g.152425820C>T	ENSP00000172853:p.Val4132Ile					NEB_uc002txr.3_Missense_Mutation_p.V598I|NEB_uc002txu.3_Missense_Mutation_p.V5833I|NEB_uc021vrc.1_Missense_Mutation_p.V5833I|NEB_uc010fnx.3_Missense_Mutation_p.V4120I|NEB_uc021vrd.1_Missense_Mutation_p.V4132I	p.V4132I	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	80	12423	-			4132					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12394G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	18.08	3.544927	0.65198	5.0E-4	0.002159	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08546	3.2;3.19;3.18;3.08;3.2	6.08	6.08	0.98989	.	0.056646	0.64402	D	0.000001	T	0.17365	0.0417	L	0.29908	0.895	0.80722	D	1	P;D	0.59357	0.539;0.985	B;D	0.68943	0.089;0.961	T	0.01456	-1.1350	10	0.31617	T	0.26	.	14.7834	0.69784	0.0:0.9297:0.0:0.0703	.	4132;563	P20929;Q14215	NEBU_HUMAN;.	I	4132;5833;5833;181;563;4132	ENSP00000386259:V4132I;ENSP00000380505:V5833I;ENSP00000416578:V5833I;ENSP00000410961:V563I;ENSP00000172853:V4132I	ENSP00000172853:V4132I	V	-	1	0	NEB	152134066	0.990000	0.36364	0.998000	0.56505	0.379000	0.30106	2.884000	0.48562	2.894000	0.99253	0.655000	0.94253	GTC		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152425820	C	T	152425820	3	4	140	1	0	0	0	0	1	0	0	0	10302	536	19	1	8481	1	NEB	2	152425820	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	14392264	152425820	90773553	11	9531											
COBLL1	22837	broad.mit.edu	37	chr2	165551266	165551266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcagctgcagatgtcacaTagtgacccgatactctcttc	9	11	9	12	1	2	2	1	1	1	1	4	3	2	2	1	1	3	3	1	1	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:165551266T>C	ENST00000392717.2	-	13	2868	c.2864A>G	c.(2863-2865)tAt>tGt	p.Y955C	COBLL1_ENST00000375458.2_Missense_Mutation_p.Y879C|COBLL1_ENST00000194871.6_Missense_Mutation_p.Y984C|COBLL1_ENST00000409184.3_Missense_Mutation_p.Y917C|COBLL1_ENST00000342193.4_Missense_Mutation_p.Y917C			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	955						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATGTCACATAGTGACCCGA	0.448																																						uc002ucp.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2749-2751)tAt>tGt		Homo sapiens COBL-like 1 (COBLL1), mRNA.							42	44	43					2																	165551266		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551266T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2864A>G	2.37:g.165551266T>C	ENSP00000376478:p.Tyr955Cys					COBLL1_uc002ucq.3_Missense_Mutation_p.Y879C|COBLL1_uc010zcw.2_Missense_Mutation_p.Y984C|COBLL1_uc010zcx.2_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.3_Missense_Mutation_p.Y345C|COBLL1_uc002uco.3_Missense_Mutation_p.Y648C	p.Y917C	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			11	2972	-			955					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2750A>G		.	.	.	.	.	.	.	.	.	.	T	19.09	3.760457	0.69763	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000006	T	0.78298	0.4261	M	0.66939	2.045	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79850	-0.1629	9	0.66056	D	0.02	-15.5068	16.5655	0.84588	0.0:0.0:0.0:1.0	.	955;984;917	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	C	879;917;917;955;984	.	ENSP00000194871:Y984C	Y	-	2	0	COBLL1	165259512	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	6.778000	0.75043	2.302000	0.77476	0.533000	0.62120	TAT		0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		C	165551266	T	C	165551266	3	2	140	1	0	0	0	0	1	0	0	0	3654	1406	49	4	762	4	COBLL1	2	165551266	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	13125446	165551266	77648107	12	9532											
TTN	7273	broad.mit.edu	37	chr2	179454479	179454479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaatagccagaatgggaGtttttgtttcgatggttggc	8	15	14	4	1	0	1	0	0	0	1	1	3	0	2	1	4	1	4	1	4	3	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179454479G>A	ENST00000591111.1	-	254	57274	c.57050C>T	c.(57049-57051)aCt>aTt	p.T19017I	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18090I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T20658I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11785I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11718I|TTN_ENST00000460472.2_Missense_Mutation_p.T11593I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19017	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATGGGAGTTTTTGTTTC	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54268-54270)aCt>aTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							220	212	215					2																	179454479		1902	4104	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454479G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57050C>T	2.37:g.179454479G>A	ENSP00000465570:p.Thr19017Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11785I|TTN_uc021vta.1_Missense_Mutation_p.T11718I|TTN_uc021vtb.1_Missense_Mutation_p.T11593I	p.T18090I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	54494	-			19017			Fibronectin type-III 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54269C>T		.	.	.	.	.	.	.	.	.	.	G	11.02	1.516014	0.27123	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.1	6.1	0.99115	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59945	0.2231	L	0.39020	1.185	0.54753	D	0.999987	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;P	0.61874	0.82;0.82;0.82;0.895	T	0.59611	-0.7422	9	0.87932	D	0	.	19.7028	0.96062	0.0:0.0:1.0:0.0	.	11593;11718;11785;19017	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	18090;11593;11785;11718;11591	ENSP00000343764:T18090I;ENSP00000434586:T11593I;ENSP00000340554:T11785I;ENSP00000352154:T11718I	ENSP00000340554:T11785I	T	-	2	0	TTN	179162725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.902000	0.99343	0.650000	0.86243	ACT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179454479	G	A	179454479	3	1	140	1	0	0	0	0	1	0	0	0	16732	1029	36	3	46242	3	TTN	2	179454479	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	13903213	179454479	63744894	13	9533											
CCDC141	285025	broad.mit.edu	37	chr2	179730518	179730518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatctcgtctctcatggcGcagtactccacactacggga	8	12	8	13	3	3	0	1	0	2	0	6	1	4	1	1	2	2	2	1	2	3	4	rs144206841		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179730518G>A	ENST00000420890.2	-	17	2817	c.2700C>T	c.(2698-2700)tgC>tgT	p.C900C	CCDC141_ENST00000295723.5_Silent_p.C325C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	900										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTCATGGCGCAGTACTCCA	0.532																																						uc002une.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2698-2700)tgC>tgT		Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	363	326	338		2700	-3.1	0	2	dbSNP_134	338	0,8600		0,0,4300	no	coding-synonymous	CCDC141	NM_173648.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		900/1531	179730518	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179730518G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2700C>T	2.37:g.179730518G>A						CCDC141_uc002unf.1_Silent_p.C379C	p.C900C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		16	2818	-			325					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.2700C>T																																																																																					0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179730518	G	A	179730518	2	1	140	1	0	0	0	0	0	0	0	1	2775	1079	38	1		1	CCDC141	2	179730518	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	276039	179730518	63468855	14	9534											
NEU2	4759	broad.mit.edu	37	chr2	233899574	233899574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcaacccgcgacctccagCccctgaggcctggtcagagc	7	5	10	19	2	2	2	2	1	0	1	3	3	3	2	7	2	3	0	7	2	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:233899574C>T	ENST00000233840.3	+	2	950	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	317					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CGACCTCCAGCCCCTGAGGCC	0.672																																						uc010zmn.2																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(949-951)gCc>gTc		Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.							65	72	70					2																	233899574		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899574C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.950C>T	2.37:g.233899574C>T	ENSP00000233840:p.Ala317Val						p.A317V	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	950	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	317					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.950C>T	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.689105	0.14973	.	.	ENSG00000115488	ENST00000233840	D	0.84070	-1.8	4.87	-3.49	0.04724	Neuraminidase (2);	0.998045	0.08111	N	0.996183	T	0.67915	0.2944	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.53019	-0.8497	10	0.87932	D	0	-6.7362	2.4716	0.04566	0.2886:0.4078:0.0795:0.2241	.	317	Q9Y3R4	NEUR2_HUMAN	V	317	ENSP00000233840:A317V	ENSP00000233840:A317V	A	+	2	0	NEU2	233607818	0.652000	0.27349	0.000000	0.03702	0.108000	0.19459	1.670000	0.37502	-1.051000	0.03226	-0.136000	0.14681	GCC		0.672	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		T	233899574	C	T	233899574	3	4	140	1	0	0	0	0	1	0	0	0	10342	739	26	3	956	3	NEU2	2	233899574	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	54169056	233899574	9299799	15	9535											
ANO7	50636	broad.mit.edu	37	chr2	242149970	242149970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtatccctggcccacGtcctgacacgatggggtgag	7	10	12	12	2	1	2	0	2	1	0	3	3	3	2	3	3	0	1	3	3	2	2	rs148576854		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:242149970G>A	ENST00000274979.8	+	15	1811	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I	ANO7_ENST00000402430.3_Missense_Mutation_p.V569I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	570					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCCACGTCCTGACACG	0.622																																						uc002wax.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1708-1710)Gtc>Atc		Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	90	76	81		1708	-1.4	0	2	dbSNP_134	81	0,8600		0,0,4300	no	missense	ANO7	NM_001001891.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	570/934	242149970	1,13005	2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242149970G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1708G>A	2.37:g.242149970G>A	ENSP00000274979:p.Val570Ile						p.V570I	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			14	1811	+			570					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1708G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758262	0.15846	2.27E-4	0.0	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62639	0.01;0.01	3.34	-1.42	0.08913	.	0.709648	0.12304	N	0.480812	T	0.41926	0.1180	L	0.41573	1.285	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.20538	-1.0272	10	0.22706	T	0.39	.	0.8037	0.01079	0.3046:0.3139:0.2228:0.1587	.	570	Q6IWH7	ANO7_HUMAN	I	570;569	ENSP00000274979:V570I;ENSP00000385418:V569I	ENSP00000274979:V570I	V	+	1	0	ANO7	241798643	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-3.884000	0.00342	-0.308000	0.08792	0.313000	0.20887	GTC		0.622	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242149970	G	A	242149970	3	1	140	1	0	0	0	0	1	0	0	0	702	1145	40	1	1838	1	ANO7	2	242149970	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	8250396	242149970	1049403	16	9536											
OGG1	4968	broad.mit.edu	37	chr3	9798237	9798237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggcacattgcccaacGtgactacagctggcacccta	10	9	9	13	1	0	1	0	1	0	0	0	1	0	1	2	2	4	3	2	2	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:9798237G>A	ENST00000344629.7	+	5	1173	c.830G>A	c.(829-831)cGt>cAt	p.R277H	OGG1_ENST00000302036.7_Missense_Mutation_p.R277H|OGG1_ENST00000339511.5_Missense_Mutation_p.R277H|OGG1_ENST00000302008.8_Missense_Mutation_p.R277H|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.R277H|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Missense_Mutation_p.R277H			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	277					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATTGCCCAACGTGACTACAGC	0.602								Base excision repair (BER), DNA glycosylases																														uc003bsi.3																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(829-831)cGt>cAt	Base excision repair (BER), DNA glycosylases	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.							80	76	77					3																	9798237		2203	4300	6503	SO:0001583	missense	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798237G>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.830G>A	3.37:g.9798237G>A	ENSP00000342851:p.Arg277His					OGG1_uc003bsj.3_Missense_Mutation_p.R277H|OGG1_uc003bsh.3_Missense_Mutation_p.R277H|OGG1_uc003bsl.3_Missense_Mutation_p.R277H|OGG1_uc003bsk.3_Missense_Mutation_p.R277H|OGG1_uc003bsm.3_Missense_Mutation_p.R277H|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.R42H|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.R42H	p.R277H	NM_002542	NP_002533	O15527	OGG1_HUMAN			4	1173	+	Medulloblastoma(99;0.227)		277					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.830G>A	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.736930|1.736930	0.30774|0.30774	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000339511;ENST00000449570;ENST00000302008|ENST00000441094;ENST00000416333	D;D;D;D;D;D|.	0.89270|.	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49|.	5.43|5.43	3.45|3.45	0.39498|0.39498	HhH-GPD domain (2);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);|.	0.202733|.	0.51477|.	N|.	0.000091|.	T|T	0.73481|0.73481	0.3592|0.3592	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	B;P;P;B;B;P;B;B|.	0.37233|.	0.191;0.466;0.588;0.262;0.43;0.522;0.191;0.377|.	B;B;B;B;B;B;B;B|.	0.25884|.	0.042;0.038;0.046;0.052;0.044;0.064;0.042;0.026|.	T|T	0.72984|0.72984	-0.4125|-0.4125	10|5	0.59425|.	D|.	0.04|.	-1.2137|-1.2137	10.1125|10.1125	0.42572|0.42572	0.2524:0.0:0.7476:0.0|0.2524:0.0:0.7476:0.0	.|.	277;277;277;277;277;277;277;277|.	E5KPN1;O15527-3;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2|.	.;.;.;.;.;.;OGG1_HUMAN;.|.	H|M	277|175;44	ENSP00000305584:R277H;ENSP00000342851:R277H;ENSP00000306561:R277H;ENSP00000345520:R277H;ENSP00000403598:R277H;ENSP00000305527:R277H|.	ENSP00000305584:R277H|.	R|V	+|+	2|1	0|0	OGG1|OGG1	9773237|9773237	0.986000|0.986000	0.35501|0.35501	0.120000|0.120000	0.21714|0.21714	0.292000|0.292000	0.27327|0.27327	3.345000|3.345000	0.52182|0.52182	0.645000|0.645000	0.30675|0.30675	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		A	9798237	G	A	9798237	3	1	140	1	0	0	0	0	1	0	0	0	10845	1145	40	1	848	1	OGG1	3	9798237	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		9798237	188224193	17	9537											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942514	23942514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaagccatgtatacatCttccattgtttcgcaatctt	10	16	5	10	1	2	1	0	1	2	0	4	1	3	1	2	0	3	3	2	0	5	7			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:23942514C>A	ENST00000443659.2	-	3	898	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D41Y			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	41					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ATGTATACATCTTCCATTGTT	0.413																																						uc003ccj.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(121-123)Gat>Tat		Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.							177	172	174					3																	23942514		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942514C>A	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"NFKB inhibitor interacting Ras-like protein 1"			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.121G>T	3.37:g.23942514C>A	ENSP00000393785:p.Asp41Tyr					NKIRAS1_uc003cck.3_Missense_Mutation_p.D41Y	p.D41Y	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN			3	523	-			41					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.121G>T	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573132	0.86542	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.99;0.994	D	0.96581	0.9430	10	0.87932	D	0	-29.483	19.1246	0.93376	0.0:1.0:0.0:0.0	.	41;41	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	Y	41	ENSP00000373411:D41Y;ENSP00000393785:D41Y;ENSP00000392307:D41Y;ENSP00000400385:D41Y;ENSP00000406543:D41Y;ENSP00000396063:D41Y;ENSP00000415225:D41Y;ENSP00000394214:D41Y	ENSP00000373411:D41Y	D	-	1	0	NKIRAS1	23917518	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.818000	0.86416	2.618000	0.88619	0.491000	0.48974	GAT		0.413	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		A	23942514	C	A	23942514	3	1	140	1	0	0	0	0	1	0	0	0	10444	913	32	5	465	5	NKIRAS1	3	23942514	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	14144277	23942514	174079916	18	9538											
ACTR8	93973	broad.mit.edu	37	chr3	53909976	53909976	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttccaagttccttaccGagtattccgatgagacaccc	10	10	6	15	2	0	1	0	1	0	1	3	4	3	1	6	0	1	2	6	0	3	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:53909976G>A	ENST00000335754.3	-	7	1010	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	ACTR8_ENST00000482349.1_Splice_Site_p.R193W|ACTR8_ENST00000231909.7_Splice_Site_p.R54C	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	304					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GTTCCTTACCGAGTATTCCGA	0.433																																						uc003dhd.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.e7+1		Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.							166	156	159					3																	53909976		2203	4300	6503	SO:0001630	splice_region_variant	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53909976G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.911+1C>T	3.37:g.53909976G>A						ACTR8_uc003dhb.3_Splice_Site_p.R54_splice|ACTR8_uc003dhc.3_Splice_Site_p.R193_splice	p.R304_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	7	1012	-			304					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.911_splice	CCDS2875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.471205|4.471205	0.84533|0.84533	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000231909|ENST00000335754;ENST00000482349	D|D;D	0.97505|0.94280	-4.41|-3.39;-3.39	5.87|5.87	3.95|3.95	0.45737|0.45737	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96765|0.96765	0.8944|0.8944	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.85130|0.97110	0.997|1.0	D|D	0.97226|0.97226	0.9881|0.9881	10|10	0.87932|0.87932	D|D	0|0	0.015|0.015	12.3619|12.3619	0.55207|0.55207	0.0:0.0:0.566:0.434|0.0:0.0:0.566:0.434	.|.	54|304	Q9H981-3|Q9H981	.|ARP8_HUMAN	C|W	54|304;193	ENSP00000231909:R54C|ENSP00000336842:R304W;ENSP00000419429:R193W	ENSP00000231909:R54C|ENSP00000336842:R304W	R|R	-|-	1|1	0|2	ACTR8|ACTR8	53885016|53885016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	3.751000|3.751000	0.55165|0.55165	1.602000|1.602000	0.50124|0.50124	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.433	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899	Missense_Mutation	A	53909976	G	A	53909976	5	1	140	1	0	0	0	0	0	0	1	0	217	1072	37	2	992	2	ACTR8	3	53909976	Splice_Site	SNP	G	TCGA-14-1823-01A-01W-0643-08	29967462	53909976	144112454	19	9539											
EPHA6	285220	broad.mit.edu	37	chr3	97167503	97167503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccaaatatgtatttcAcatccgagtgagaactgcga	14	9	8	10	2	1	1	1	1	0	1	2	4	2	1	3	0	3	1	3	0	4	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:97167503A>T	ENST00000389672.5	+	7	1861	c.1823A>T	c.(1822-1824)cAc>cTc	p.H608L	EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	514						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGTATTTCACATCCGAGTG	0.448																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1822-1824)cAc>cTc		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							115	112	113					3																	97167503		1907	4136	6043	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167503A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1823A>T	3.37:g.97167503A>T	ENSP00000374323:p.His608Leu					EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	p.H608L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			6	1866	+			513					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1823A>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753226	0.49362	.	.	ENSG00000080224	ENST00000389672	T	0.56941	0.43	5.65	5.65	0.86999	.	.	.	.	.	T	0.58935	0.2157	L	0.41573	1.285	0.80722	D	1	.	.	.	.	.	.	T	0.62215	-0.6901	7	0.87932	D	0	.	15.8891	0.79279	1.0:0.0:0.0:0.0	.	.	.	.	L	608	ENSP00000374323:H608L	ENSP00000374323:H608L	H	+	2	0	EPHA6	98650193	1.000000	0.71417	0.988000	0.46212	0.852000	0.48524	4.852000	0.62904	2.149000	0.67028	0.533000	0.62120	CAC		0.448	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		T	97167503	A	T	97167503	3	4	140	1	0	0	0	0	1	0	0	0	5171	159	6	5	1849	5	EPHA6	3	97167503	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	43257527	97167503	100854927	20	9540											
MORC1	27136	broad.mit.edu	37	chr3	108698509	108698509	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttccatcggcacattgAgcaagctgaggtttgtcatt	9	13	9	10	1	2	2	1	2	1	0	4	2	3	2	1	2	2	4	1	2	1	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:108698509A>T	ENST00000483760.1	-	23	2310	c.2267T>A	c.(2266-2268)cTc>cAc	p.L756H	MORC1_ENST00000232603.5_Missense_Mutation_p.L777H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CGGCACATTGAGCAAGCTGAG	0.368																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2329-2331)cTc>cAc		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							111	105	107					3																	108698509		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698509A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2267T>A	3.37:g.108698509A>T	ENSP00000417282:p.Leu756His					MORC1_uc011bhn.2_Missense_Mutation_p.L756H	p.L777H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			23	2417	-			777						Missense_Mutation	SNP	ENST00000483760.1	37	c.2330T>A		.	.	.	.	.	.	.	.	.	.	A	1.896	-0.454203	0.04540	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06068	3.36;3.35	4.88	-0.92	0.10475	.	1.996540	0.02195	N	0.061683	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36114	-0.9761	10	0.13108	T	0.6	6.0434	0.5859	0.00720	0.3425:0.1703:0.3134:0.1738	.	756;777	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	777;756	ENSP00000232603:L777H;ENSP00000417282:L756H	ENSP00000232603:L777H	L	-	2	0	MORC1	110181199	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.182000	0.09726	-0.015000	0.14150	-0.621000	0.04028	CTC		0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			T	108698509	A	T	108698509	3	4	140	1	0	0	0	0	1	0	0	0	9701	304	11	5	644	5	MORC1	3	108698509	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	11531006	108698509	89323921	21	9541											
UGT2A3	79799	broad.mit.edu	37	chr4	69796959	69796959	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttgtacctccataacAcctacggaagaaacacatgt	13	11	5	12	1	0	1	0	0	0	1	2	2	2	2	4	1	4	1	4	1	5	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:69796959A>C	ENST00000251566.4	-	4	1028	c.998T>G	c.(997-999)gTg>gGg	p.V333G	UGT2A3_ENST00000420231.2_Splice_Site_p.V44G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	333					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCATAACACCTACGGAAG	0.373																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e4-1		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							138	118	124					4																	69796959		2203	4300	6503	SO:0001630	splice_region_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796959A>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.997-1T>G	4.37:g.69796959A>C						UGT2A3_uc010ihp.1_Splice_Site	p.V333_splice	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			4	1028	-			333					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.997_splice	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661027	0.47572	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.66638	-0.22;2.91	1.99	1.99	0.26369	.	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	H	0.96547	3.84	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84556	0.0647	10	0.87932	D	0	.	7.5652	0.27874	1.0:0.0:0.0:0.0	.	333	Q6UWM9	UD2A3_HUMAN	G	333;44	ENSP00000251566:V333G;ENSP00000440115:V44G	ENSP00000251566:V333G	V	-	2	0	UGT2A3	69831548	1.000000	0.71417	0.065000	0.19835	0.039000	0.13416	6.760000	0.74939	0.905000	0.36596	0.402000	0.26972	GTG		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	Missense_Mutation	C	69796959	A	C	69796959	5	2	140	1	0	0	0	0	0	0	1	0	16952	173	6	5	597	5	UGT2A3	4	69796959	Splice_Site	SNP	A	TCGA-14-1823-01A-01W-0643-08		69796959	121357317	22	9542											
DDX60	55601	broad.mit.edu	37	chr4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtattgcagttggaaccGagctggcccaatgccaactg	10	9	11	11	1	0	0	0	0	0	0	0	2	0	1	3	2	5	4	3	2	4	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:169196591G>A	ENST00000393743.3	-	16	2500	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R737W(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393																																						uc003irp.3																			2	Substitution - Missense(2)	p.R737W(3)|p.R737Q(1)	central_nervous_system(2)	breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2209-2211)Cgg>Tgg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.							100	97	98					4																	169196591		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169196591G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2209C>T	4.37:g.169196591G>A	ENSP00000377344:p.Arg737Trp						p.R737W	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2501	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	737					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2209C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174401	0.57692	.	.	ENSG00000137628	ENST00000393743	T	0.19532	2.14	5.37	2.62	0.31277	.	0.102711	0.43110	D	0.000614	T	0.30885	0.0779	L	0.32530	0.975	0.33200	D	0.552031	D	0.89917	1.0	D	0.97110	1.0	T	0.35992	-0.9766	10	0.56958	D	0.05	.	8.9432	0.35742	0.0699:0.0:0.6638:0.2663	.	737	Q8IY21	DDX60_HUMAN	W	737	ENSP00000377344:R737W	ENSP00000377344:R737W	R	-	1	2	DDX60	169433166	1.000000	0.71417	0.267000	0.24556	0.683000	0.39861	3.490000	0.53245	0.297000	0.22615	0.563000	0.77884	CGG		0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		A	169196591	G	A	169196591	3	1	140	1	0	0	0	0	1	0	0	0	4378	1057	37	2	3021	2	DDX60	4	169196591	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	99399632	169196591	21957685	23	9543											
KCNQ5	56479	broad.mit.edu	37	chr6	73713705	73713705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacaaaattggcctcaaGttgcctcttgatcctggtaa	11	11	8	11	0	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:73713705G>T	ENST00000370398.1	+	2	582	c.473G>T	c.(472-474)aGt>aTt	p.S158I	KCNQ5_ENST00000342056.2_Missense_Mutation_p.S158I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S158I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S158I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S158I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S158I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S158I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S158I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	158					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGGCCTCAAGTTGCCTCTTG	0.358																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(472-474)aGt>aTt		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							182	155	164					6																	73713705		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713705G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.473G>T	6.37:g.73713705G>T	ENSP00000359425:p.Ser158Ile					KCNQ5_uc003pgj.4_Missense_Mutation_p.S158I|KCNQ5_uc011dyi.2_Missense_Mutation_p.S158I|KCNQ5_uc010kat.3_Missense_Mutation_p.S158I|KCNQ5_uc003pgk.3_Missense_Mutation_p.S158I|KCNQ5_uc011dyj.2_Missense_Mutation_p.S158I|KCNQ5_uc011dyk.2_5'UTR	p.S158I	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	1	820	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	158					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.473G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079823	0.36662	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.58	5.58	0.84498	.	0.305106	0.39210	N	0.001421	T	0.70281	0.3206	N	0.11560	0.145	0.36760	D	0.883235	P;P;B;B;B;B	0.48016	0.904;0.727;0.016;0.009;0.291;0.391	P;B;B;B;B;B	0.45829	0.494;0.242;0.008;0.012;0.122;0.257	T	0.74830	-0.3531	10	0.35671	T	0.21	.	12.1033	0.53796	0.0799:0.0:0.9201:0.0	.	158;158;158;158;158;158	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	I	158	ENSP00000345055:S158I;ENSP00000347326:S158I;ENSP00000359425:S158I;ENSP00000359419:S158I;ENSP00000385501:S158I;ENSP00000347853:S158I;ENSP00000384453:S158I;ENSP00000409861:S158I	ENSP00000345055:S158I	S	+	2	0	KCNQ5	73770426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.135000	0.57997	2.769000	0.95229	0.655000	0.94253	AGT		0.358	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73713705	G	T	73713705	3	4	140	1	0	0	0	0	1	0	0	0	8086	1029	36	5	479	5	KCNQ5	6	73713705	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		73713705	97401362	24	9544											
COL12A1	1303	broad.mit.edu	37	chr6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctaaaagaacgatgggttCgctcagaaataactaagtta	16	10	8	7	2	2	2	1	0	1	2	3	3	2	2	0	1	2	3	0	1	7	5	rs370549168	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:75858174C>T	ENST00000322507.8	-	22	4496	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_ENST00000416123.2_Missense_Mutation_p.R1396Q|COL12A1_ENST00000345356.6_Missense_Mutation_p.R232Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1396Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1396	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398													C|||	2	0.000399361	0	0	5008	,	,		18567	0		0	False		,,,				2504	0.002					uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(4186-4188)cGa>cAa		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.		C	GLN/ARG,GLN/ARG	0,3790		0,0,1895	99	93	95		4187,695	2.9	1	6		95	1,8233		0,1,4116	no	missense,missense	COL12A1	NM_004370.5,NM_080645.2	43,43	0,1,6011	TT,TC,CC		0.0121,0.0,0.0083	benign,benign	1396/3064,232/1900	75858174	1,12023	1895	4117	6012	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75858174C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4187G>A	6.37:g.75858174C>T	ENSP00000325146:p.Arg1396Gln					COL12A1_uc021zbw.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.3_Missense_Mutation_p.R232Q	p.R1396Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN			20	4222	-			1396			Fibronectin type-III 9.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4187G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612873	0.28712	0.0	1.21E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.76	2.9	0.33743	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.816994	0.11179	N	0.591195	T	0.11024	0.0269	N	0.10916	0.065	0.20821	N	0.999843	B;B	0.16603	0.005;0.018	B;B	0.12837	0.003;0.008	T	0.16041	-1.0416	10	0.25106	T	0.35	.	2.4255	0.04458	0.2542:0.4827:0.1092:0.1539	.	232;1396	Q99715-2;Q99715	.;COCA1_HUMAN	Q	1396;1396;232;1396;1396	ENSP00000325146:R1396Q;ENSP00000305147:R232Q;ENSP00000412864:R1396Q;ENSP00000421216:R1396Q	ENSP00000325146:R1396Q	R	-	2	0	COL12A1	75914894	0.254000	0.23992	1.000000	0.80357	0.999000	0.98932	1.686000	0.37669	1.445000	0.47624	0.650000	0.86243	CGA		0.398	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		T	75858174	C	T	75858174	3	4	140	1	0	0	0	0	1	0	0	0	3669	884	31	2	5184	2	COL12A1	6	75858174	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	2144469	75858174	95256893	25	9545											
BVES	11149	broad.mit.edu	37	chr6	105573416	105573416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggagtggttcaaacaatCgccggtacatgccactgagt	11	8	11	11	3	1	1	1	1	0	0	2	2	1	2	2	3	3	2	2	3	3	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:105573416C>T	ENST00000314641.5	-	4	605	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	BVES_ENST00000336775.5_Missense_Mutation_p.R130Q|BVES_ENST00000446408.2_Missense_Mutation_p.R130Q	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	130					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCAAACAATCGCCGGTACAT	0.443																																						uc003pqw.3																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(388-390)cGa>cAa		Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.							148	142	144					6																	105573416		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573416C>T	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.389G>A	6.37:g.105573416C>T	ENSP00000313172:p.Arg130Gln					BVES_uc003pqx.3_Missense_Mutation_p.R130Q|BVES_uc003pqy.3_Missense_Mutation_p.R130Q	p.R130Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			3	546	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	130					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.389G>A	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970538	0.92919	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.30448	1.53;1.53;1.53	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.03148	-1.1067	10	0.22706	T	0.39	-28.268	19.8324	0.96640	0.0:1.0:0.0:0.0	.	130	Q8NE79	POPD1_HUMAN	Q	130	ENSP00000313172:R130Q;ENSP00000337259:R130Q;ENSP00000397310:R130Q	ENSP00000313172:R130Q	R	-	2	0	BVES	105680109	1.000000	0.71417	0.986000	0.45419	0.954000	0.61252	7.377000	0.79668	2.680000	0.91292	0.655000	0.94253	CGA		0.443	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		T	105573416	C	T	105573416	3	4	140	1	0	0	0	0	1	0	0	0	1575	884	31	2	713	2	BVES	6	105573416	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	29715242	105573416	65541651	26	9546											
T	6862	broad.mit.edu	37	chr6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggggtgtgtagtgcgCgggggagccccggaagaact	7	6	21	7	3	0	2	0	1	0	1	0	4	0	4	2	6	3	1	2	6	3	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:166571970C>T	ENST00000296946.2	-	9	1609	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	T_ENST00000366871.3_Missense_Mutation_p.A323T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	381					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A381T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711									Chordoma, Familial Clustering of																													uc003qut.1																			1	Substitution - Missense(1)	p.A381T(2)|p.A381E(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1144-1146)Gcg>Acg		Homo sapiens T, brachyury homolog (mouse) (T), mRNA.							29	37	35					6																	166571970		2202	4298	6500	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571970C>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1141G>A	6.37:g.166571970C>T	ENSP00000296946:p.Ala381Thr					T_uc003quu.1_Missense_Mutation_p.A381T|T_uc003quv.1_Missense_Mutation_p.A323T	p.A382T	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	7	1430	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	381					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1144G>A	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807183	0.16467	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83506	-1.69;-1.73	4.79	2.0	0.26442	.	0.838244	0.10388	N	0.680694	T	0.52191	0.1719	L	0.41027	1.25	0.09310	N	1	B;B;B	0.12630	0.001;0.003;0.006	B;B;B	0.08055	0.001;0.003;0.002	T	0.34576	-0.9823	10	0.17369	T	0.5	.	4.9617	0.14070	0.0:0.5898:0.1547:0.2555	.	323;381;323	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	T	381;381;323	ENSP00000296946:A381T;ENSP00000355836:A323T	ENSP00000296946:A381T	A	-	1	0	T	166491960	0.006000	0.16342	0.000000	0.03702	0.097000	0.18754	0.768000	0.26590	0.538000	0.28769	0.561000	0.74099	GCG		0.711	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		T	166571970	C	T	166571970	3	4	140	1	0	0	0	0	1	0	0	0	15485	768	27	1	170	1	T	6	166571970	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	60998554	166571970	4543097	27	9547											
FERD3L	222894	broad.mit.edu	37	chr7	19184907	19184907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgcagaggagagggcGtctcggggaggccagggaca	10	3	20	8	3	1	2	0	0	1	2	3	6	1	4	1	6	0	1	1	6	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:19184907G>A	ENST00000275461.3	-	1	137	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	27					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGAGAGGGCGTCTCGGGGAG	0.677																																						uc003suo.1																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(79-81)Cgc>Tgc		Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.							37	35	36					7																	19184907		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184907G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.79C>T	7.37:g.19184907G>A	ENSP00000275461:p.Arg27Cys					BC043576_uc003sun.1_Non-coding_Transcript	p.R27C	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			0	138	-			27					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.79C>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097421	0.37048	.	.	ENSG00000146618	ENST00000275461	D	0.96427	-4.01	5.66	4.78	0.61160	.	0.931729	0.09018	N	0.860560	D	0.90103	0.6908	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.33799	0.17	T	0.82178	-0.0586	10	0.38643	T	0.18	-4.9157	12.0967	0.53758	0.0:0.1877:0.7087:0.1036	.	27	Q96RJ6	FER3L_HUMAN	C	27	ENSP00000275461:R27C	ENSP00000275461:R27C	R	-	1	0	FERD3L	19151432	0.007000	0.16637	0.906000	0.35671	0.755000	0.42902	1.468000	0.35332	1.382000	0.46385	0.650000	0.86243	CGC		0.677	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			A	19184907	G	A	19184907	3	1	140	1	0	0	0	0	1	0	0	0	5816	1145	40	1	425	1	FERD3L	7	19184907	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		19184907	139953756	28	9548											
UPP1	7378	broad.mit.edu	37	chr7	48139333	48139333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatattctctatcatttCaatctcaccactagcagaca	14	12	4	11	0	4	2	3	0	2	2	6	3	4	2	1	0	1	1	1	0	5	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48139333C>A	ENST00000331803.4	+	5	734	c.111C>A	c.(109-111)ttC>ttA	p.F37L	UPP1_ENST00000395564.4_Missense_Mutation_p.F37L|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.F37L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	37					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	TCTATCATTTCAATCTCACCA	0.393																																						uc003toj.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(109-111)ttC>ttA		Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.							144	143	143					7																	48139333		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48139333C>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.111C>A	7.37:g.48139333C>A	ENSP00000330032:p.Phe37Leu					UPP1_uc003tok.3_Missense_Mutation_p.F37L|UPP1_uc003tol.3_Missense_Mutation_p.F37L|UPP1_uc011kcg.1_Missense_Mutation_p.F37L|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	p.F37L	NM_181597	NP_853628	Q16831	UPP1_HUMAN			4	640	+			37					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.111C>A	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	3.031	-0.199695	0.06219	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.58	0.141	0.14811	.	0.097503	0.64402	N	0.000001	T	0.11537	0.0281	N	0.16903	0.455	0.80722	D	1	P;B	0.35107	0.484;0.025	B;B	0.28991	0.097;0.032	T	0.33214	-0.9877	10	0.02654	T	1	-28.3263	0.8992	0.01270	0.1446:0.2507:0.2833:0.3214	.	37;37	B4DND0;Q16831	.;UPP1_HUMAN	L	37	ENSP00000405209:F37L;ENSP00000330032:F37L;ENSP00000342878:F37L;ENSP00000378931:F37L;ENSP00000390118:F37L	ENSP00000330032:F37L	F	+	3	2	UPP1	48105858	0.994000	0.37717	0.199000	0.23439	0.964000	0.63967	0.422000	0.21296	0.007000	0.14760	-0.300000	0.09419	TTC		0.393	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		A	48139333	C	A	48139333	3	1	140	1	0	0	0	0	1	0	0	0	17009	825	29	5	117	5	UPP1	7	48139333	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	28954426	48139333	110999330	29	9549											
UPP1	7378	broad.mit.edu	37	chr7	48146585	48146585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaaacggaccttaacaaGaagctggtgcaggagctgtt	13	7	13	8	2	0	1	0	0	0	1	0	4	0	4	1	4	5	4	1	4	5	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48146585G>T	ENST00000331803.4	+	8	1175	c.552G>T	c.(550-552)aaG>aaT	p.K184N	UPP1_ENST00000395564.4_Missense_Mutation_p.K184N|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.K47N|UPP1_ENST00000341253.4_Missense_Mutation_p.K184N			Q16831	UPP1_HUMAN	uridine phosphorylase 1	184					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ACCTTAACAAGAAGCTGGTGC	0.537																																						uc003toj.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(550-552)aaG>aaT		Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.							121	114	117					7																	48146585		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146585G>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.552G>T	7.37:g.48146585G>T	ENSP00000330032:p.Lys184Asn					UPP1_uc003tok.3_Missense_Mutation_p.K184N|UPP1_uc003tol.3_Missense_Mutation_p.K184N|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Missense_Mutation_p.K47N	p.K184N	NM_181597	NP_853628	Q16831	UPP1_HUMAN			7	1081	+			184					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.552G>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571316	0.28003	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.9	2.05	0.26809	Nucleoside phosphorylase domain (1);	1.135540	0.06203	N	0.683606	D	0.83945	0.5364	L	0.42744	1.35	0.09310	N	1	B;B	0.33694	0.421;0.281	B;B	0.41466	0.209;0.358	T	0.72100	-0.4392	10	0.39692	T	0.17	-8.1131	3.6246	0.08108	0.0879:0.1357:0.4413:0.3351	.	47;184	Q86Y75;Q16831	.;UPP1_HUMAN	N	184;184;184;47	ENSP00000330032:K184N;ENSP00000342878:K184N;ENSP00000378931:K184N;ENSP00000406224:K47N	ENSP00000330032:K184N	K	+	3	2	UPP1	48113110	0.000000	0.05858	0.002000	0.10522	0.446000	0.32137	0.358000	0.20216	0.834000	0.34852	0.650000	0.86243	AAG		0.537	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		T	48146585	G	T	48146585	3	4	140	1	0	0	0	0	1	0	0	0	17009	933	33	5	570	5	UPP1	7	48146585	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	7252	48146585	110992078	30	9550											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179	143	155					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221821	G	A	55221821	3	1	140	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	7075236	55221821	103916842	31	9551											
FZD1	8321	broad.mit.edu	37	chr7	90894669	90894669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttctaccctctagtgaaAgtgcagtgttccgctgagct	8	12	10	11	1	2	2	0	2	2	0	3	2	3	2	2	0	3	5	2	0	3	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:90894669A>T	ENST00000287934.2	+	1	887	c.474A>T	c.(472-474)aaA>aaT	p.K158N		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	158	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTCTAGTGAAAGTGCAGTGTT	0.632																																						uc003ula.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(472-474)aaA>aaT		Homo sapiens frizzled family receptor 1 (FZD1), mRNA.							172	162	165					7																	90894669		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894669A>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.474A>T	7.37:g.90894669A>T	ENSP00000287934:p.Lys158Asn						p.K158N	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		0	887	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		158			FZ.		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.474A>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181285	0.57800	.	.	ENSG00000157240	ENST00000287934	T	0.79554	-1.28	4.54	3.61	0.41365	Frizzled domain (5);	0.000000	0.64402	D	0.000002	T	0.82204	0.4986	L	0.33189	0.99	0.58432	D	0.999998	D	0.65815	0.995	D	0.67382	0.951	T	0.82872	-0.0242	10	0.87932	D	0	.	10.5879	0.45294	0.0994:0.0:0.9006:0.0	.	158	Q9UP38	FZD1_HUMAN	N	158	ENSP00000287934:K158N	ENSP00000287934:K158N	K	+	3	2	FZD1	90732605	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.563000	0.45922	1.045000	0.40225	0.454000	0.30748	AAA		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		T	90894669	A	T	90894669	3	4	140	1	0	0	0	0	1	0	0	0	6128	69	3	5	476	5	FZD1	7	90894669	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	35672848	90894669	68243994	32	9552											
MUC17	140453	broad.mit.edu	37	chr7	100685376	100685376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagttcatctccagcaaCtcttcaggtcaccactatgc	10	10	6	15	0	5	0	3	0	2	0	6	0	5	0	3	1	4	2	3	1	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:100685376C>G	ENST00000306151.4	+	3	10743	c.10679C>G	c.(10678-10680)aCt>aGt	p.T3560S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3560	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCCAGCAACTCTTCAGGTC	0.478																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10678-10680)aCt>aGt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							221	224	223					7																	100685376		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685376C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10679C>G	7.37:g.100685376C>G	ENSP00000302716:p.Thr3560Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.T3560S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	10732	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3560			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10679C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.938	0.542906	0.13250	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.782	0.782	0.18567	.	.	.	.	.	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	P	0.52692	0.955	D	0.65443	0.935	T	0.47548	-0.9109	9	0.14656	T	0.56	.	7.3946	0.26929	0.0:0.9999:0.0:1.0E-4	.	3560	Q685J3	MUC17_HUMAN	S	3560	ENSP00000302716:T3560S	ENSP00000302716:T3560S	T	+	2	0	MUC17	100472096	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.874000	0.28065	0.701000	0.31803	0.196000	0.17591	ACT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100685376	C	G	100685376	3	3	140	1	0	0	0	0	1	0	0	0	9974	565	20	5	10689	5	MUC17	7	100685376	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	9790707	100685376	58453287	33	9553											
DGKI	9162	broad.mit.edu	37	chr7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagaacattttatttcGaaaacgactgttgaatttct	13	16	6	6	2	1	2	0	1	1	1	2	4	1	2	0	0	3	2	0	0	6	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:137263039G>A	ENST00000288490.5	-	16	1675	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_ENST00000453654.2_Nonsense_Mutation_p.R259*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.R559*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R559*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R559*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338																																						uc003vtt.3																			2	Substitution - Nonsense(2)	p.R559*(3)	breast(2)	breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1675-1677)Cga>Tga		Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.							66	67	67					7																	137263039		2202	4298	6500	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137263039G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1675C>T	7.37:g.137263039G>A	ENSP00000288490:p.Arg559*					DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	p.R559*	NM_004717	NP_004708	O75912	DGKI_HUMAN			15	1676	-			559					A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	c.1675C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	41	8.960103	0.99018	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	3.16	0.36331	.	0.061993	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0951	0.65016	0.0:0.0:0.6495:0.3505	.	.	.	.	X	259;507;559;559;559	.	ENSP00000288490:R559X	R	-	1	2	DGKI	136913579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.259000	0.32956	1.248000	0.43934	0.462000	0.41574	CGA		0.338	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137263039	G	A	137263039	4	1	140	1	0	0	0	0	0	1	0	0	4471	1066	37	2	1598	2	DGKI	7	137263039	Nonsense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	36577663	137263039	21875624	34	9554											
PSD3	23362	broad.mit.edu	37	chr8	18432725	18432725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgtggccttggatgccAatgcgtggtgcacactcaca	8	9	12	12	2	1	0	1	0	0	0	2	1	2	1	3	3	3	1	3	3	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:18432725A>G	ENST00000327040.8	-	13	2654	c.2552T>C	c.(2551-2553)tTg>tCg	p.L851S	PSD3_ENST00000286485.8_Missense_Mutation_p.L317S|PSD3_ENST00000523619.1_Missense_Mutation_p.L786S|PSD3_ENST00000428502.2_Missense_Mutation_p.L180S|PSD3_ENST00000440756.2_Missense_Mutation_p.L853S	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	852	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTGGATGCCAATGCGTGGTG	0.428																																						uc003wza.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2551-2553)tTg>tCg		Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.							126	118	120					8																	18432725		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18432725A>G	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2552T>C	8.37:g.18432725A>G	ENSP00000324127:p.Leu851Ser					PSD3_uc003wyx.4_Missense_Mutation_p.L180S|PSD3_uc003wyy.3_Missense_Mutation_p.L317S|PSD3_uc003wyz.3_Missense_Mutation_p.L152S	p.L851S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	12	2655	-			852			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2552T>C	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353661	0.82243	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.40144	U	0.001163	D	0.87470	0.6185	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;1.0	D	0.88752	0.3251	10	0.87932	D	0	.	14.3464	0.66668	1.0:0.0:0.0:0.0	.	851;852;317;180	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	S	851;853;317;180;786	ENSP00000324127:L851S;ENSP00000401704:L853S;ENSP00000286485:L317S;ENSP00000393228:L180S;ENSP00000430640:L786S	ENSP00000286485:L317S	L	-	2	0	PSD3	18477005	1.000000	0.71417	0.891000	0.34965	0.724000	0.41520	9.271000	0.95698	2.281000	0.76405	0.533000	0.62120	TTG		0.428	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18432725	A	G	18432725	3	3	140	1	0	0	0	0	1	0	0	0	12648	131	5	4	607	4	PSD3	8	18432725	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		18432725	127931297	35	9555											
LGI3	203190	broad.mit.edu	37	chr8	22006477	22006477	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccatcggcttgcagtgCactgcagagggggctgtgcc	7	7	14	13	1	0	1	0	0	0	1	1	1	0	1	3	3	4	5	3	3	0	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:22006477C>A	ENST00000306317.2	-	8	1132	c.843G>T	c.(841-843)gtG>gtT	p.V281V	LGI3_ENST00000424267.2_Silent_p.V257V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	281					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCTTGCAGTGCACTGCAGAGG	0.627																																						uc003xav.3																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(841-843)gtG>gtT		Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.							34	31	32					8																	22006477		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006477C>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.843G>T	8.37:g.22006477C>A						LGI3_uc010ltu.3_Silent_p.V257V	p.V281V	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	7	1132	-			281					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.843G>T	CCDS6025.1																																																																																				0.627	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			A	22006477	C	A	22006477	2	1	140	1	0	0	0	0	0	0	0	1	8753	697	25	5		5	LGI3	8	22006477	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	3573752	22006477	124357545	36	9556											
SNAI2	6591	broad.mit.edu	37	chr8	49831516	49831516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgtctgcaaatgctctGttgcagtgagggcaagaaaa	12	9	12	8	0	2	2	0	1	2	1	2	3	2	2	1	1	3	5	1	1	4	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:49831516G>T	ENST00000396822.1	-	4	1014	c.657C>A	c.(655-657)aaC>aaA	p.N219K	SNAI2_ENST00000020945.1_Missense_Mutation_p.N219K			O43623	SNAI2_HUMAN	snail family zinc finger 2	219					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAAATGCTCTGTTGCAGTGAG	0.433																																						uc003xqp.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(655-657)aaC>aaA		Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.							91	91	91					8																	49831516		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49831516G>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.657C>A	8.37:g.49831516G>T	ENSP00000380034:p.Asn219Lys						p.N219K	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	832	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	219					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.657C>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132012	0.37630	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.06449	3.3;3.3	5.22	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.188741	0.53938	D	0.000041	T	0.05318	0.0141	N	0.16833	0.445	0.53005	D	0.999966	B	0.02656	0.0	B	0.08055	0.003	T	0.31558	-0.9939	10	0.66056	D	0.02	-14.8978	13.4335	0.61071	0.0755:0.0:0.9245:0.0	.	219	O43623	SNAI2_HUMAN	K	219	ENSP00000020945:N219K;ENSP00000380034:N219K	ENSP00000020945:N219K	N	-	3	2	SNAI2	49994069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.818000	0.55678	1.191000	0.43056	0.650000	0.86243	AAC		0.433	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		T	49831516	G	T	49831516	3	4	140	1	0	0	0	0	1	0	0	0	14827	1368	48	5	153	5	SNAI2	8	49831516	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27825039	49831516	96532506	37	9557											
ZFHX4	79776	broad.mit.edu	37	chr8	77763369	77763369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtaaccattgtagcttGgctttcaaaactatgcagaa	12	12	8	9	1	1	1	1	0	0	1	1	1	1	1	1	1	4	6	1	1	6	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:77763369G>C	ENST00000521891.2	+	10	4660	c.4212G>C	c.(4210-4212)ttG>ttC	p.L1404F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1378F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1359F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1359F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTGTAGCTTGGCTTTCAAAA	0.453										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4210-4212)ttG>ttC		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							76	71	72					8																	77763369		1893	4120	6013	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763369G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4212G>C	8.37:g.77763369G>C	ENSP00000430497:p.Leu1404Phe	HNSCC(33;0.089)				ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	p.L1404F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	4599	+			1359					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4212G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117516	0.37339	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.41	3.54	0.40534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.35838	U	0.002956	T	0.56307	0.1976	M	0.82716	2.605	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	T	0.61222	-0.7106	10	0.51188	T	0.08	.	12.5339	0.56131	0.0813:0.0:0.9187:0.0	.	1359;1359;1404	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1404;1404;1359;1359;1378	ENSP00000430497:L1404F;ENSP00000399605:L1359F;ENSP00000050961:L1359F;ENSP00000430848:L1378F	ENSP00000050961:L1359F	L	+	3	2	ZFHX4	77925924	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.822000	0.55708	1.236000	0.43740	0.555000	0.69702	TTG		0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77763369	G	C	77763369	3	2	140	1	0	0	0	0	1	0	0	0	17632	1339	47	5	4246	5	ZFHX4	8	77763369	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27931853	77763369	68600653	38	9558											
LRP12	29967	broad.mit.edu	37	chr8	105503293	105503293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgagtcatacgactgaGtgcacttgtaagctggtgac	9	10	11	11	1	1	3	1	3	0	0	1	4	1	3	2	1	3	3	2	1	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:105503293G>C	ENST00000276654.5	-	7	2296	c.2188C>G	c.(2188-2190)Ctc>Gtc	p.L730V	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.L711V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	730					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACGACTGAGTGCACTTGTA	0.493																																						uc003yma.3																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2188-2190)Ctc>Gtc		Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.							120	98	105					8																	105503293		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503293G>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2188C>G	8.37:g.105503293G>C	ENSP00000276654:p.Leu730Val					LRP12_uc003ymb.3_Missense_Mutation_p.L711V|LRP12_uc003ylz.3_Missense_Mutation_p.L136V	p.L730V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	2315	-			730					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2188C>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525463	0.44969	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.88431	-2.38;-2.31	5.28	3.06	0.35304	.	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	L	0.27053	0.805	0.53005	D	0.999965	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.967	D	0.85567	0.1231	10	0.32370	T	0.25	-14.8577	9.2056	0.37287	0.2774:0.0:0.7226:0.0	.	711;730	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	V	711;730;95	ENSP00000399148:L711V;ENSP00000276654:L730V	ENSP00000276654:L730V	L	-	1	0	LRP12	105572469	0.994000	0.37717	0.649000	0.29536	0.989000	0.77384	1.712000	0.37940	1.339000	0.45563	0.650000	0.86243	CTC		0.493	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		C	105503293	G	C	105503293	3	2	140	1	0	0	0	0	1	0	0	0	8954	1029	36	5	395	5	LRP12	8	105503293	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27739924	105503293	40860729	39	9559											
NFX1	4799	broad.mit.edu	37	chr9	33351731	33351731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgactgtggtcacccGtgtatggcaccctgccatac	8	9	11	13	1	1	2	1	1	0	1	1	2	1	2	3	2	3	3	3	2	2	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:33351731G>A	ENST00000379540.3	+	16	2660	c.2598G>A	c.(2596-2598)ccG>ccA	p.P866P	NFX1_ENST00000379521.4_Silent_p.P866P|Y_RNA_ENST00000363674.1_RNA	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	866					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552																																						uc003zsr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(2599-2601)ccG>ccA		Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.							76	72	73					9																	33351731		2203	4300	6503	SO:0001819	synonymous_variant	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33351731G>A	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2598G>A	9.37:g.33351731G>A						NFX1_uc003zsp.2_Silent_p.P866P|NFX1_uc010mjr.2_Silent_p.P867P|NFX1_uc003zsq.3_Silent_p.P866P	p.P867P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	15	2754	+			866					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	ENST00000379540.3	37	c.2601G>A	CCDS6538.1																																																																																				0.552	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			A	33351731	G	A	33351731	2	1	140	1	0	0	0	0	0	0	0	1	10387	1132	40	1		1	NFX1	9	33351731	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08		33351731	107861700	40	9560											
VPS13A	23230	broad.mit.edu	37	chr9	79867155	79867155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattttctgtacttaggtgaTaattggagagaagcacgaaa	14	13	10	4	1	1	2	0	1	1	1	1	5	1	3	0	2	2	2	0	2	6	7			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:79867155T>C	ENST00000360280.3	+	22	2435	c.2175T>C	c.(2173-2175)gaT>gaC	p.D725D	VPS13A_ENST00000376636.3_Silent_p.D725D|VPS13A_ENST00000357409.5_Silent_p.D725D|VPS13A_ENST00000376634.4_Silent_p.D725D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	725					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTTAGGTGATAATTGGAGAG	0.343																																						uc004akr.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2173-2175)gaT>gaC		Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.							162	154	157					9																	79867155		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867155T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2175T>C	9.37:g.79867155T>C						VPS13A_uc004akp.4_Silent_p.D725D|VPS13A_uc004akq.4_Silent_p.D725D|VPS13A_uc004aks.3_Silent_p.D725D	p.D725D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			21	2435	+			725					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.2175T>C	CCDS6655.1																																																																																				0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79867155	T	C	79867155	2	2	140	1	0	0	0	0	0	0	0	1	17186	1403	49	4		4	VPS13A	9	79867155	Silent	SNP	T	TCGA-14-1823-01A-01W-0643-08	46515424	79867155	61346276	41	9561											
C9orf125	84302	broad.mit.edu	37	chr9	104239089	104239089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccagggccggggggtggCctgccagacaatgggcactg	7	4	18	12	1	0	1	0	0	0	1	0	1	0	1	4	6	2	1	4	6	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:104239089C>A	ENST00000374851.1	-	4	1433	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.A96S|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.A96S|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	96						integral component of membrane (GO:0016021)											CGGGGGGTGGCCTGCCAGACA	0.592																																						uc004bbm.3																			0											c.(286-288)Gcc>Tcc		Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.							45	44	44					9																	104239089		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239089C>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.286G>T	9.37:g.104239089C>A	ENSP00000363984:p.Ala96Ser					AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.A96S	p.A96S	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			1	608	-			96					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.286G>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	c	3.383	-0.125852	0.06795	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	2.45	0.29901	.	0.513215	0.21458	N	0.074220	T	0.12347	0.0300	N	0.02011	-0.69	0.24345	N	0.994949	B	0.09022	0.002	B	0.06405	0.002	T	0.24476	-1.0159	9	0.07813	T	0.8	-12.7545	11.0848	0.48080	0.1273:0.5129:0.3599:0.0	.	96	Q9BRR3	CI125_HUMAN	S	96	.	ENSP00000363980:A96S	A	-	1	0	C9orf125	103278910	0.023000	0.18921	1.000000	0.80357	0.943000	0.58893	0.418000	0.21230	1.326000	0.45319	0.645000	0.84053	GCC		0.592	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		A	104239089	C	A	104239089	3	1	140	1	0	0	0	0	1	0	0	0	2454	739	26	5	929	5	C9orf125	9	104239089	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	24371934	104239089	36974342	42	9562											
NUP214	8021	broad.mit.edu	37	chr9	134022964	134022964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcggcaaagccaggctCtccccaggtatgtttaaatt	10	10	9	12	1	1	0	0	0	1	0	3	0	2	0	4	3	2	4	4	3	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:134022964C>G	ENST00000359428.5	+	14	2177	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	NUP214_ENST00000451030.1_Missense_Mutation_p.S679C|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S668C			P35658	NU214_HUMAN	nucleoporin 214kDa	678	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCAGGCTCTCCCCAGGTA	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2032-2034)tCt>tGt		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							96	101	100					9																	134022964		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134022964C>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2033C>G	9.37:g.134022964C>G	ENSP00000352400:p.Ser678Cys					NUP214_uc004cah.3_Missense_Mutation_p.S668C|NUP214_uc004cai.3_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.3_Intron	p.S678C	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	2144	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	678			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2033C>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779494	0.49891	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34859	1.37;1.34;1.37	5.98	5.98	0.97165	.	0.192245	0.25872	N	0.027742	T	0.38983	0.1061	N	0.08118	0	0.21984	N	0.999434	D;D;D	0.71674	0.998;0.995;0.998	P;P;P	0.61592	0.891;0.847;0.891	T	0.42616	-0.9441	10	0.72032	D	0.01	-19.0568	17.1849	0.86863	0.0:1.0:0.0:0.0	.	272;668;678	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	C	678;668;679;667;272;107	ENSP00000352400:S678C;ENSP00000396576:S668C;ENSP00000405014:S679C	ENSP00000352400:S678C	S	+	2	0	NUP214	133012785	0.857000	0.29778	0.061000	0.19648	0.207000	0.24258	4.403000	0.59729	2.838000	0.97847	0.591000	0.81541	TCT		0.433	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		G	134022964	C	G	134022964	3	3	140	1	0	0	0	0	1	0	0	0	10762	913	32	5	2087	5	NUP214	9	134022964	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	29783875	134022964	7190467	43	9563											
NAALADL1	10004	broad.mit.edu	37	chr11	64825878	64825878	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatctccaggtccaggTcctggggggccagtgagttg	6	8	16	11	0	1	1	0	1	1	0	4	2	3	2	5	6	0	1	5	6	0	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:64825878T>A	ENST00000358658.3	-	1	143	c.116A>T	c.(115-117)gAc>gTc	p.D39V	NAALADL1_ENST00000356632.3_Missense_Mutation_p.D39V|NAALADL1_ENST00000340252.4_Missense_Mutation_p.D39V|NAALADL1_ENST00000355721.3_Missense_Mutation_p.D39V|NAALADL1_ENST00000339885.2_Missense_Mutation_p.D39V|NAALADL1_ENST00000355369.2_Missense_Mutation_p.D39V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTCCAGGTCCTGGGGGGC	0.637																																						uc001ocn.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(115-117)gAc>gTc		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.							44	41	42					11																	64825878		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825878T>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.116A>T	11.37:g.64825878T>A	ENSP00000351484:p.Asp39Val					NAALADL1_uc010rnw.2_5'UTR	p.D39V	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			0	132	-			39					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.116A>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296778	0.60086	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.50548	1.11;0.75;0.74;1.28;1.08;1.29	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.52631	-0.8550	10	0.42905	T	0.14	-40.1327	11.4716	0.50272	0.0:0.0:0.0:1.0	.	39	Q9UQQ1	NALDL_HUMAN	V	39	ENSP00000351484:D39V;ENSP00000347530:D39V;ENSP00000340111:D39V;ENSP00000344244:D39V;ENSP00000347955:D39V;ENSP00000349045:D39V	ENSP00000340111:D39V	D	-	2	0	NAALADL1	64582454	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.251000	0.72441	1.830000	0.53286	0.418000	0.28097	GAC		0.637	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		A	64825878	T	A	64825878	3	1	140	1	0	0	0	0	1	0	0	0	10129	1667	58	5	2178	5	NAALADL1	11	64825878	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08		64825878	70180638	44	9564											
SART1	9092	broad.mit.edu	37	chr11	65743897	65743897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaagctggagtctcGccagcggggctgggaggagg	8	6	20	7	2	1	2	0	1	1	1	2	5	1	5	1	6	2	2	1	6	2	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:65743897G>A	ENST00000312397.5	+	13	1696	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	535					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGAGTCTCGCCAGCGGGGC	0.637																																						uc001ogl.3																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1603-1605)cGc>cAc		Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.							27	32	30					11																	65743897		2201	4295	6496	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65743897G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1604G>A	11.37:g.65743897G>A	ENSP00000310448:p.Arg535His						p.R535H	NM_005146	NP_005137	O43290	SNUT1_HUMAN			12	1696	+			535					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1604G>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230324	0.39399	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.22743	1.94	4.73	2.87	0.33458	.	0.514295	0.16994	N	0.191187	T	0.18923	0.0454	L	0.55481	1.735	0.09310	N	0.999999	B	0.16166	0.016	B	0.09377	0.004	T	0.21552	-1.0242	10	0.87932	D	0	-3.8971	6.2452	0.20813	0.3032:0.0:0.6968:0.0	.	535	O43290	SNUT1_HUMAN	H	535;377	ENSP00000310448:R535H	ENSP00000310448:R535H	R	+	2	0	SART1	65500473	0.126000	0.22350	0.283000	0.24790	0.789000	0.44602	2.394000	0.44450	0.612000	0.30071	-0.339000	0.08088	CGC		0.637	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			A	65743897	G	A	65743897	3	1	140	1	0	0	0	0	1	0	0	0	13846	1087	38	1	1654	1	SART1	11	65743897	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	918019	65743897	69262619	45	9565											
SLC38A1	81539	broad.mit.edu	37	chr12	46594885	46594885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagaaattacttaccataGaatgtcaagtagccaaaaat	19	10	6	6	0	1	2	1	0	0	2	1	2	1	2	2	0	3	2	2	0	10	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:46594885G>C	ENST00000398637.5	-	13	1693	c.999C>G	c.(997-999)ttC>ttG	p.F333L	SLC38A1_ENST00000439706.1_Missense_Mutation_p.F333L|SLC38A1_ENST00000552197.1_Missense_Mutation_p.F333L|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.F333L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.F333L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	333					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTACCATAGAATGTCAAGT	0.299																																						uc009zkj.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(997-999)ttC>ttG		Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.							59	52	54					12																	46594885		1803	4073	5876	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594885G>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.999C>G	12.37:g.46594885G>C	ENSP00000381634:p.Phe333Leu					SLC38A1_uc001rpb.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.3_Missense_Mutation_p.F333L|SLC38A1_uc010slh.2_Missense_Mutation_p.F306L|SLC38A1_uc001rpa.3_Missense_Mutation_p.F333L	p.F333L	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		12	1684	-	Lung SC(27;0.137)|Renal(347;0.236)		333					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.999C>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055241	0.75960	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.53	2.7	0.31948	.	0.000000	0.64402	D	0.000002	T	0.34337	0.0894	M	0.88181	2.935	0.43133	D	0.994878	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.85130	0.996;0.997;0.97	T	0.06570	-1.0819	10	0.87932	D	0	-22.1919	8.1853	0.31335	0.3843:0.0:0.6157:0.0	.	333;333;333	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	L	333	ENSP00000449607:F333L;ENSP00000398142:F333L;ENSP00000381634:F333L;ENSP00000447853:F333L;ENSP00000449756:F333L	ENSP00000381634:F333L	F	-	3	2	SLC38A1	44881152	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.543000	0.45752	0.279000	0.22186	0.557000	0.71058	TTC		0.299	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			C	46594885	G	C	46594885	3	2	140	1	0	0	0	0	1	0	0	0	14601	933	33	5	484	5	SLC38A1	12	46594885	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		46594885	87257010	46	9566											
OR6C6	283365	broad.mit.edu	37	chr12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaaaaggagaaattaCggagaaagaaatacattggc	19	7	9	6	1	0	3	0	0	0	3	1	5	1	3	1	3	2	0	1	3	7	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388																																						uc010sph.2																			0		p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(184-186)cGt>cAt		Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.							64	67	66					12																	55688832		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688832C>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.185G>A	12.37:g.55688832C>T	ENSP00000351211:p.Arg62His						p.R62H	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			0	185	-			62						Missense_Mutation	SNP	ENST00000358433.2	37	c.185G>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			T	55688832	C	T	55688832	3	4	140	1	0	0	0	0	1	0	0	0	11194	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	9093947	55688832	78163063	47	9567											
APPL2	55198	broad.mit.edu	37	chr12	105600948	105600948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggtgctgcttccgcCgggccgcggccacctctttt	4	9	14	14	4	1	1	0	0	1	1	2	2	2	1	5	4	2	2	5	4	0	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:105600948C>T	ENST00000258530.3	-	8	737	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	APPL2_ENST00000539978.2_Missense_Mutation_p.R128Q|APPL2_ENST00000551662.1_Missense_Mutation_p.R177Q|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCTTCCGCCGGGCCGCGGC	0.522																																						uc010swu.1																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(529-531)cGg>cAg		Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.							69	66	67					12																	105600948		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105600948C>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.512G>A	12.37:g.105600948C>T	ENSP00000258530:p.Arg171Gln					APPL2_uc010swt.2_Missense_Mutation_p.R128Q|APPL2_uc001tlf.1_Missense_Mutation_p.R171Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R128Q	p.R177Q	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN			7	748	-			171			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.530G>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	37	5.983393	0.97173	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553097	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	6.17	6.17	0.99709	.	0.051404	0.64402	D	0.000001	T	0.25901	0.0631	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62740	0.906;0.749;0.731	T	0.00004	-1.2573	10	0.56958	D	0.05	-24.7969	20.8794	0.99867	0.0:1.0:0.0:0.0	.	177;128;171	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	Q	171;128;177;138	ENSP00000258530:R171Q;ENSP00000444472:R128Q;ENSP00000446917:R177Q;ENSP00000449767:R138Q	ENSP00000258530:R171Q	R	-	2	0	APPL2	104125078	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGG		0.522	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		T	105600948	C	T	105600948	3	4	140	1	0	0	0	0	1	0	0	0	818	652	23	2	1538	2	APPL2	12	105600948	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	49912116	105600948	28250947	48	9568											
GZMB	3002	broad.mit.edu	37	chr14	25100297	25100297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtagcgtttcatggtttTctttatccagtgtacaaagc	9	17	8	7	1	2	0	1	0	1	0	3	0	3	0	1	1	3	4	1	1	5	8			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:25100297T>C	ENST00000216341.4	-	5	830	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	GZMB_ENST00000415355.3_Missense_Mutation_p.K230E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.K276E|GZMB_ENST00000382540.1_Missense_Mutation_p.K197E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTCATGGTTTTCTTTATCCAG	0.493																																						uc001wps.2																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(724-726)Aaa>Gaa		Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.							222	216	218					14																	25100297		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25100297T>C	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.724A>G	14.37:g.25100297T>C	ENSP00000216341:p.Lys242Glu					GZMB_uc010ama.2_Missense_Mutation_p.K230E|GZMB_uc010amb.2_Non-coding_Transcript	p.K242E	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	790	-			242			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.724A>G	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	T	9.501	1.103345	0.20632	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	T;D;D;T	0.92495	0.34;-3.05;-3.05;1.63	5.15	0.137	0.14787	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.538685	0.14229	N	0.332871	T	0.75715	0.3887	N	0.01535	-0.81	0.24912	N	0.992031	B;B	0.09022	0.0;0.002	B;B	0.09377	0.004;0.004	T	0.65961	-0.6041	10	0.35671	T	0.21	.	7.8906	0.29675	0.0:0.2937:0.0:0.7063	.	230;242	Q6XGZ4;P10144	.;GRAB_HUMAN	E	230;242;276;197;147	ENSP00000387385:K230E;ENSP00000216341:K242E;ENSP00000371982:K276E;ENSP00000371980:K197E	ENSP00000216341:K242E	K	-	1	0	GZMB	24170137	0.003000	0.15002	0.851000	0.33527	0.113000	0.19764	0.729000	0.26028	-0.040000	0.13580	0.533000	0.62120	AAA		0.493	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		C	25100297	T	C	25100297	3	2	140	1	0	0	0	0	1	0	0	0	6916	1792	62	4	23	4	GZMB	14	25100297	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08		25100297	82249243	49	9569											
ESRRB	2103	broad.mit.edu	37	chr14	76957925	76957925	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaggactacatcatggAtgaggagcactcccgcctcg	9	7	12	13	3	1	2	1	2	0	0	3	5	2	5	2	3	2	2	2	3	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:76957925A>C	ENST00000509242.1	+	7	1021	c.923A>C	c.(922-924)gAt>gCt	p.D308A	ESRRB_ENST00000556177.1_Missense_Mutation_p.D308A|ESRRB_ENST00000261532.7_Missense_Mutation_p.D308A|ESRRB_ENST00000380887.2_Missense_Mutation_p.D308A	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	308					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TACATCATGGATGAGGAGCAC	0.592																																						uc001xsr.3																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(922-924)gAt>gCt		Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							58	46	50					14																	76957925		2202	4297	6499	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76957925A>C	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.923A>C	14.37:g.76957925A>C	ENSP00000422488:p.Asp308Ala					ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.D308A	p.D308A	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	7	1294	+			308					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.923A>C	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752102	0.89753	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.81682	2.555	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.57720	0.826;0.826	T	0.75639	-0.3248	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	308;313	Q5F0P7;E7EWD9	.;.	A	313;308;308;308;308	ENSP00000424992:D313A;ENSP00000422488:D308A;ENSP00000451658:D308A;ENSP00000370270:D308A;ENSP00000261532:D308A	ENSP00000261532:D308A	D	+	2	0	ESRRB	76027678	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	GAT		0.592	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			C	76957925	A	C	76957925	3	2	140	1	0	0	0	0	1	0	0	0	5261	333	12	5	941	5	ESRRB	14	76957925	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	51857628	76957925	30391615	50	9570											
KCNK13	56659	broad.mit.edu	37	chr14	90528848	90528848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctgggacttcaccggcgCcttctacttcgtgggcaccg	4	9	13	15	5	2	0	1	0	1	0	3	1	2	1	3	3	1	2	3	3	1	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:90528848C>T	ENST00000282146.4	+	1	740	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	100					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTCACCGGCGCCTTCTACTTC	0.692																																						uc001xye.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(298-300)gCc>gTc		Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.							9	10	9					14																	90528848		2129	4140	6269	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90528848C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.299C>T	14.37:g.90528848C>T	ENSP00000282146:p.Ala100Val						p.A100V	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			0	741	+		all_cancers(154;0.186)	100					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.299C>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156247	0.94686	.	.	ENSG00000152315	ENST00000282146	T	0.36520	1.25	4.41	4.41	0.53225	Ion transport 2 (1);	0.000000	0.32231	N	0.006383	T	0.67477	0.2897	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.77140	-0.2697	10	0.87932	D	0	.	17.3753	0.87391	0.0:1.0:0.0:0.0	.	100	Q9HB14	KCNKD_HUMAN	V	100	ENSP00000282146:A100V	ENSP00000282146:A100V	A	+	2	0	KCNK13	89598601	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.522000	0.81844	2.167000	0.68274	0.313000	0.20887	GCC		0.692	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		T	90528848	C	T	90528848	3	4	140	1	0	0	0	0	1	0	0	0	8061	739	26	3	301	3	KCNK13	14	90528848	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	13570923	90528848	16820692	51	9571											
FOXN1	8456	broad.mit.edu	37	chr17	26862064	26862064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccccccaggactcgcCtctgcctgcccacaccccac	7	4	7	23	1	1	0	0	0	1	0	2	1	1	1	8	2	2	1	8	2	0	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:26862064C>G	ENST00000226247.2	+	7	1504	c.1475C>G	c.(1474-1476)cCt>cGt	p.P492R	FOXN1_ENST00000579795.1_Missense_Mutation_p.P492R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	492					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGGACTCGCCTCTGCCTGCC	0.687																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1474-1476)cCt>cGt		Homo sapiens forkhead box N1 (FOXN1), mRNA.							36	35	35					17																	26862064		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26862064C>G	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1475C>G	17.37:g.26862064C>G	ENSP00000226247:p.Pro492Arg					FOXN1_uc002hbj.3_Missense_Mutation_p.P492R	p.P492R	NM_003593	NP_003584	O15353	FOXN1_HUMAN			7	1673	+	Lung NSC(42;0.00431)		492					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1475C>G	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132419	0.77662	.	.	ENSG00000109101	ENST00000226247	D	0.94687	-3.49	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000006	D	0.96901	0.8988	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.97664	1.0162	10	0.87932	D	0	.	17.0535	0.86526	0.0:1.0:0.0:0.0	.	492	O15353	FOXN1_HUMAN	R	492	ENSP00000226247:P492R	ENSP00000226247:P492R	P	+	2	0	FOXN1	23886191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.311000	0.65786	2.251000	0.74343	0.561000	0.74099	CCT		0.687	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			G	26862064	C	G	26862064	3	3	140	1	0	0	0	0	1	0	0	0	6019	681	24	5	1501	5	FOXN1	17	26862064	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08		26862064	54333146	52	9572											
HOXB13	10481	broad.mit.edu	37	chr17	46805737	46805737	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggcacgggagctggggaCgtcccctggggcaccccagg	7	4	17	13	2	0	0	0	0	0	0	1	2	1	2	4	7	1	3	4	7	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:46805737C>A	ENST00000290295.7	-	1	803	c.219G>T	c.(217-219)acG>acT	p.T73T	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	73					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GAGCTGGGGACGTCCCCTGGG	0.652																																						uc002ioa.3																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(217-219)acG>acT		Homo sapiens homeobox B13 (HOXB13), mRNA.							45	55	52					17																	46805737		2202	4297	6499	SO:0001819	synonymous_variant	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805737C>A	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.219G>T	17.37:g.46805737C>A							p.T73T	NM_006361	NP_006352	Q92826	HXB13_HUMAN			0	375	-			73					B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	37	c.219G>T	CCDS11536.1																																																																																				0.652	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		A	46805737	C	A	46805737	2	1	140	1	0	0	0	0	0	0	0	1	7300	523	19	5		5	HOXB13	17	46805737	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	19943673	46805737	34389473	53	9573											
RNF213	57674	broad.mit.edu	37	chr17	78262155	78262155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaacaggcaggggcctcagCctctatggtgagtcatccgg	8	7	14	12	1	3	1	2	1	1	0	4	1	4	1	3	5	2	2	3	5	2	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:78262155C>G	ENST00000582970.1	+	4	946	c.803C>G	c.(802-804)gCc>gGc	p.A268G	RNF213_ENST00000319921.4_Missense_Mutation_p.A268G|RNF213_ENST00000456466.1_Missense_Mutation_p.A268G|RNF213_ENST00000508628.2_Missense_Mutation_p.A317G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	268					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCCTCAGCCTCTATGGTG	0.642																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(949-951)gCc>gGc		SubName: Full=Uncharacterized protein;							27	31	30					17																	78262155		2179	4255	6434	SO:0001583	missense	57674							g.chr17:78262155C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.803C>G	17.37:g.78262155C>G	ENSP00000464087:p.Ala268Gly					RNF213_uc002jyf.3_Missense_Mutation_p.A268G|RNF213_uc021uen.1_Missense_Mutation_p.A268G|RNF213_uc002jyg.1_5'UTR	p.A317G	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1093	+	all_neural(118;0.0538)		268					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.950C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	8.559	0.877268	0.17395	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.46819	0.86;0.86	4.56	-0.382	0.12481	.	0.944031	0.08696	N	0.907140	T	0.39118	0.1066	L	0.44542	1.39	0.09310	N	1	B	0.27882	0.192	B	0.27262	0.078	T	0.38478	-0.9659	10	0.62326	D	0.03	-8.7594	9.0222	0.36206	0.1565:0.3854:0.458:0.0	.	268	Q9HCF4-2	.	G	268;317;268;268	ENSP00000392123:A268G;ENSP00000324392:A268G	ENSP00000324392:A268G	A	+	2	0	RNF213	75876750	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.051000	0.11885	-0.086000	0.12550	0.655000	0.94253	GCC		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78262155	C	G	78262155	3	3	140	1	0	0	0	0	1	0	0	0	13477	739	26	5	964	5	RNF213	17	78262155	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	31456418	78262155	2933055	54	9574											
C18orf62	284274	broad.mit.edu	37	chr18	73139434	73139434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattccccttgaatatccGtcccattcctgcagagtctt	9	13	5	14	1	1	2	0	1	1	1	5	2	5	2	5	0	1	1	5	0	3	5	rs142533881	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr18:73139434G>A	ENST00000579022.1	-	1	224	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	SMIM21_ENST00000382638.3_Missense_Mutation_p.R29W|SMIM21_ENST00000584508.1_Missense_Mutation_p.R29W	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	29						integral component of membrane (GO:0016021)											TTGAATATCCGTCCCATTCCT	0.498													G|||	6	0.00119808	8e-04	0	5008	,	,		20702	0.004		0	False		,,,				2504	0.001					uc002lma.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(85-87)Cgg>Tgg		Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.		G	TRP/ARG	0,4406		0,0,2203	216	189	198		85	-4.6	0	18	dbSNP_134	198	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C18orf62	NM_001037331.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	29/102	73139434	2,13004	2203	4300	6503	SO:0001583	missense	284274					integral to membrane		g.chr18:73139434G>A		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 62"	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.85C>T	18.37:g.73139434G>A	ENSP00000462106:p.Arg29Trp					C18orf62_uc010dqw.1_Non-coding_Transcript|C18orf62_uc002lmb.1_Non-coding_Transcript	p.R29W	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	0	156	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	29						Missense_Mutation	SNP	ENST00000579022.1	37	c.85C>T	CCDS32845.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	1.696	-0.502746	0.04261	0.0	2.33E-4	ENSG00000206026	ENST00000382638	.	.	.	2.28	-4.56	0.03431	.	.	.	.	.	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	8	0.87932	D	0	.	6.2242	0.20698	0.2335:0.1791:0.5874:0.0	.	29	Q3B7S5	CR062_HUMAN	W	29	.	ENSP00000372083:R29W	R	-	1	2	C18orf62	71268422	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.004000	0.13106	-1.094000	0.03054	0.260000	0.18958	CGG		0.498	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		A	73139434	G	A	73139434	3	1	140	1	0	0	0	0	1	0	0	0	1906	1144	40	1	232	1	C18orf62	18	73139434	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		73139434	4937814	55	9575											
FAM187B	148109	broad.mit.edu	37	chr19	35718884	35718884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatggatcctaagggacAgtcgagccacacaaattctg	13	8	10	10	1	1	0	0	0	1	0	3	3	2	2	2	2	2	1	2	2	3	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:35718884A>T	ENST00000324675.3	-	1	748	c.700T>A	c.(700-702)Tgt>Agt	p.C234S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	234						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTAAGGGACAGTCGAGCCAC	0.507																																						uc002nyk.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(700-702)Tgt>Agt		Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.							76	63	68					19																	35718884		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35718884A>T	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.700T>A	19.37:g.35718884A>T	ENSP00000323355:p.Cys234Ser						p.C234S	NM_152481	NP_689694	Q17R55	F187B_HUMAN			0	745	-			234					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.700T>A	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591932	0.46214	.	.	ENSG00000177558	ENST00000324675	T	0.51574	0.7	4.91	4.91	0.64330	.	0.000000	0.51477	D	0.000083	T	0.63920	0.2552	M	0.64997	1.995	0.42729	D	0.993708	D	0.89917	1.0	D	0.87578	0.998	T	0.67730	-0.5595	10	0.87932	D	0	-30.4055	11.2187	0.48842	1.0:0.0:0.0:0.0	.	234	Q17R55	F187B_HUMAN	S	234	ENSP00000323355:C234S	ENSP00000323355:C234S	C	-	1	0	FAM187B	40410724	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	4.159000	0.58157	1.960000	0.56953	0.533000	0.62120	TGT		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		T	35718884	A	T	35718884	3	4	140	1	0	0	0	0	1	0	0	0	5513	188	7	5	417	5	FAM187B	19	35718884	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		35718884	23410099	56	9576											
ZIM3	114026	broad.mit.edu	37	chr19	57647409	57647409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacttctcttgcgagaCtctctttcacatcctttggc	6	15	8	12	1	3	1	1	0	2	1	6	3	4	2	1	2	1	0	1	2	0	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:57647409C>G	ENST00000269834.1	-	5	681	c.296G>C	c.(295-297)aGt>aCt	p.S99T	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCGAGACTCTCTTTCAC	0.408																																						uc002qnz.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(295-297)aGt>aCt		Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.							175	170	172					19																	57647409		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647409C>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.296G>C	19.37:g.57647409C>G	ENSP00000269834:p.Ser99Thr						p.S99T	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	682	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	99					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.296G>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	0.360	-0.940013	0.02322	.	.	ENSG00000141946	ENST00000269834	T	0.04706	3.57	2.18	-0.205	0.13196	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	P	0.43750	0.816	B	0.36534	0.227	T	0.40739	-0.9547	9	0.09590	T	0.72	.	5.6202	0.17453	0.0:0.6361:0.0:0.3639	.	99	Q96PE6	ZIM3_HUMAN	T	99	ENSP00000269834:S99T	ENSP00000269834:S99T	S	-	2	0	ZIM3	62339221	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.791000	0.04599	-0.001000	0.14495	0.313000	0.20887	AGT		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			G	57647409	C	G	57647409	3	3	140	1	0	0	0	0	1	0	0	0	17682	565	20	5	1126	5	ZIM3	19	57647409	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	21928525	57647409	1481574	57	9577											
HNF4A	3172	broad.mit.edu	37	chr20	43048412	43048412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggcggagatgagccGggtgtccatacgcatccttg	7	8	16	10	3	0	2	0	1	0	1	2	4	2	3	3	4	3	2	3	4	1	2	rs200985945		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43048412G>A	ENST00000316099.4	+	7	877	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	HNF4A_ENST00000457232.1_Missense_Mutation_p.R241Q|HNF4A_ENST00000609795.1_Missense_Mutation_p.R241Q|HNF4A_ENST00000443598.2_Missense_Mutation_p.R263Q|HNF4A_ENST00000316673.4_Missense_Mutation_p.R241Q|HNF4A_ENST00000415691.2_Missense_Mutation_p.R263Q	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	263					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATGAGCCGGGTGTCCATA	0.572																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(787-789)cGg>cAg		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							135	106	116					20																	43048412		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43048412G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.788G>A	20.37:g.43048412G>A	ENSP00000312987:p.Arg263Gln					HNF4A_uc002xlt.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.3_Missense_Mutation_p.R241Q|HNF4A_uc002xly.3_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.3_Missense_Mutation_p.R256Q|HNF4A_uc002xlz.3_Missense_Mutation_p.R263Q	p.R263Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	877	+		Myeloproliferative disorder(115;0.0122)	263					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.788G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394224	0.83011	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04	5.01	5.01	0.66863	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	2.474920	0.02008	N	0.046800	D	0.95595	0.8568	L	0.52126	1.63	0.80722	D	1	P;P;B;P;P;P;P	0.44044	0.825;0.548;0.35;0.79;0.825;0.79;0.696	B;B;B;B;B;B;B	0.36666	0.23;0.117;0.117;0.147;0.23;0.147;0.166	D	0.85342	0.1096	10	0.62326	D	0.03	.	18.3063	0.90182	0.0:0.0:1.0:0.0	.	256;263;263;263;241;241;241	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	Q	241;241;263;263;293;263	ENSP00000315180:R241Q;ENSP00000396216:R241Q;ENSP00000312987:R263Q;ENSP00000410911:R263Q;ENSP00000412111:R263Q	ENSP00000312987:R263Q	R	+	2	0	HNF4A	42481826	1.000000	0.71417	0.935000	0.37517	0.986000	0.74619	9.860000	0.99555	2.316000	0.78162	0.563000	0.77884	CGG		0.572	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			A	43048412	G	A	43048412	3	1	140	1	0	0	0	0	1	0	0	0	7253	1116	39	2	867	2	HNF4A	20	43048412	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		43048412	19977108	58	9578											
PABPC1L	80336	broad.mit.edu	37	chr20	43545422	43545422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgacgagcatggctcccGgggtttcggctttgtccatt	4	13	14	10	3	0	1	0	1	0	0	3	2	2	1	2	4	1	4	2	4	0	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43545422G>A	ENST00000217073.2	+	3	413	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	PABPC1L_ENST00000537323.1_Missense_Mutation_p.R138Q|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R138Q|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R138Q			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATGGCTCCCGGGGTTTCGGC	0.557																																						uc010ggv.1																			0		p.R138R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(412-414)cGg>cAg		Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.							154	139	143					20																	43545422		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43545422G>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.413G>A	20.37:g.43545422G>A	ENSP00000217073:p.Arg138Gln					PABPC1L_uc010zwq.1_Non-coding_Transcript	p.R138Q	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			2	495	+			138			RRM 2.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.413G>A	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711004	0.68730	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.11	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050839	0.85682	D	0.000000	T	0.42086	0.1187	M	0.89287	3.02	0.43313	D	0.99532	D	0.56521	0.976	P	0.51453	0.67	T	0.55611	-0.8114	10	0.87932	D	0	.	13.9611	0.64180	0.0751:0.0:0.9249:0.0	.	138	Q4VXU2	PAP1L_HUMAN	Q	138	ENSP00000217074:R138Q;ENSP00000255136:R138Q;ENSP00000445661:R138Q;ENSP00000217073:R138Q	ENSP00000217073:R138Q	R	+	2	0	PABPC1L	42978836	1.000000	0.71417	0.999000	0.59377	0.326000	0.28443	5.235000	0.65348	2.375000	0.81037	0.563000	0.77884	CGG		0.557	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			A	43545422	G	A	43545422	3	1	140	1	0	0	0	0	1	0	0	0	11364	1116	39	2	423	2	PABPC1L	20	43545422	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	497010	43545422	19480098	59	9579											
RBPJL	11317	broad.mit.edu	37	chr20	43938206	43938206	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctgccctactcccaGgtcatccccagagcacacca	9	6	6	20	0	1	1	1	0	0	1	3	1	3	1	7	1	4	1	7	1	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43938206G>T	ENST00000343694.3	+	3	203		c.e3-1		MATN4_ENST00000372751.4_5'Flank|RBPJL_ENST00000372743.1_Splice_Site|MATN4_ENST00000342716.4_5'Flank|MATN4_ENST00000353917.5_5'Flank|MATN4_ENST00000360607.6_5'Flank|MATN4_ENST00000537548.1_5'Flank|RBPJL_ENST00000372741.3_Splice_Site	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like						positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTACTCCCAGGTCATCCCCA	0.607																																						uc002xns.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.							81	65	71					20																	43938206		2203	4300	6503	SO:0001630	splice_region_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43938206G>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.132-1G>T	20.37:g.43938206G>T						MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Splice_Site_p.R44_splice	p.R44_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			3	204	+		Myeloproliferative disorder(115;0.0122)	44					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Splice_Site	SNP	ENST00000343694.3	37	c.132_splice	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233904	0.58886	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	.	.	.	5.01	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4337	0.44421	0.0905:0.0:0.9095:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBPJL	43371620	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	6.664000	0.74437	1.354000	0.45846	0.456000	0.33151	.		0.607	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	Intron	T	43938206	G	T	43938206	5	4	140	1	0	0	0	0	0	0	1	0	13162	1014	35	5	141	5	RBPJL	20	43938206	Splice_Site	SNP	G	TCGA-14-1823-01A-01W-0643-08	392784	43938206	19087314	60	9580											
SSX1	6756	broad.mit.edu	37	chrX	48118025	48118025	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacaggccacagacttccAggggaatgattttgataatg	14	10	10	7	0	0	3	0	2	0	1	1	4	1	4	2	3	1	0	2	3	4	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:48118025A>T	ENST00000376919.3	+	4	375	c.239A>T	c.(238-240)cAg>cTg	p.Q80L		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	80	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						ACAGACTTCCAGGGGAATGAT	0.448			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1				Dom	yes		X	Xp11.23-p11.22	6756	T	"synovial sarcoma, X breakpoint 1"			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(238-240)cAg>cTg		Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.							173	160	164					X																	48118025		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48118025A>T	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.239A>T	X.37:g.48118025A>T	ENSP00000366118:p.Gln80Leu						p.Q80L	NM_005635	NP_005626	Q16384	SSX1_HUMAN			3	330	+			80			KRAB-related.		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.239A>T	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	12.85	2.061252	0.36373	.	.	ENSG00000126752	ENST00000376919	T	0.08370	3.1	2.11	-3.27	0.05048	Krueppel-associated box (1);Krueppel-associated box-related (1);	2.879530	0.01119	N	0.005741	T	0.19685	0.0473	M	0.69823	2.125	0.09310	N	1	P	0.45126	0.851	P	0.58391	0.838	T	0.34079	-0.9843	10	0.72032	D	0.01	.	0.2208	0.00168	0.3382:0.2699:0.1726:0.2193	.	80	Q16384	SSX1_HUMAN	L	80	ENSP00000366118:Q80L	ENSP00000366118:Q80L	Q	+	2	0	SSX1	48002969	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.009000	0.03660	-0.845000	0.04179	0.305000	0.20034	CAG		0.448	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		T	48118025	A	T	48118025	3	4	140	1	0	0	0	0	1	0	0	0	15202	188	7	5	249	5	SSX1	23	48118025	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		48118025	107152535	61	9581											
FOXP3	50943	broad.mit.edu	37	chrX	49113238	49113238	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctggctcttcgaagaccTtctcacatccgggccacttg	6	11	8	16	2	3	1	1	0	3	1	6	2	4	1	4	2	0	1	4	2	1	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:49113238T>A	ENST00000376207.4	-	6	804	c.617A>T	c.(616-618)aAg>aTg	p.K206M	FOXP3_ENST00000376197.1_Missense_Mutation_p.K156M|FOXP3_ENST00000518685.1_Missense_Mutation_p.K171M|FOXP3_ENST00000455775.2_Missense_Mutation_p.K206M|FOXP3_ENST00000557224.1_Missense_Mutation_p.K171M|FOXP3_ENST00000376199.2_Missense_Mutation_p.K171M	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	206					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TTCGAAGACCTTCTCACATCC	0.617																																					GBM(182;1432 2112 16160 23073 31774)	uc004dnf.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(616-618)aAg>aTg		Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.							70	58	62					X																	49113238		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49113238T>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.617A>T	X.37:g.49113238T>A	ENSP00000365380:p.Lys206Met					FOXP3_uc011mnb.2_Missense_Mutation_p.K229M|FOXP3_uc011mnc.2_Missense_Mutation_p.K206M|FOXP3_uc004dne.4_Missense_Mutation_p.K171M|FOXP3_uc022bwa.1_Missense_Mutation_p.K156M	p.K206M	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			5	805	-	Ovarian(276;0.236)		206					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.617A>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973262	0.34848	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.143381	0.47455	D	0.000224	D	0.88998	0.6590	L	0.52759	1.655	0.29260	N	0.871388	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.984;0.998;0.999	D	0.84572	0.0656	10	0.46703	T	0.11	.	10.7025	0.45934	0.0:0.0:0.0:1.0	.	206;229;171;206;171	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	M	206;171;171;171;156;206	ENSP00000365380:K206M;ENSP00000365372:K171M;ENSP00000451208:K171M;ENSP00000428952:K171M;ENSP00000365369:K156M;ENSP00000396415:K206M	ENSP00000365369:K156M	K	-	2	0	FOXP3	49000182	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	3.330000	0.52068	1.796000	0.52611	0.486000	0.48141	AAG		0.617	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		A	49113238	T	A	49113238	3	1	140	1	0	0	0	0	1	0	0	0	6028	1609	56	5	706	5	FOXP3	23	49113238	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	995213	49113238	106157322	62	9582											
HUWE1	10075	broad.mit.edu	37	chrX	53590731	53590731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtactgttcccagatcCgccatccctctcaagcaact	10	11	5	15	1	1	1	1	0	1	1	5	1	4	1	4	0	3	3	4	0	4	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:53590731C>T	ENST00000342160.3	-	51	7538	c.7081G>A	c.(7081-7083)Gga>Aga	p.G2361R	HUWE1_ENST00000262854.6_Missense_Mutation_p.G2361R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2361	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G2224R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCCAGATCCGCCATCCCTC	0.453																																						uc004dsp.3																			1	Substitution - Missense(1)	p.G2224R(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7081-7083)Gga>Aga		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							181	126	145					X																	53590731		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53590731C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7081G>A	X.37:g.53590731C>T	ENSP00000340648:p.Gly2361Arg					HUWE1_uc004dsn.3_Missense_Mutation_p.G1185R	p.G2361R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			51	7483	-			2361			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7081G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.981|9.981	1.228259|1.228259	0.22542|0.22542	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.35236|.	1.32;1.32|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.125321|.	0.52532|.	D|.	0.000066|.	T|T	0.45955|0.45955	0.1368|0.1368	N|N	0.14661|0.14661	0.345|0.345	0.34873|0.34873	D|D	0.743825|0.743825	P;D|.	0.54397|.	0.902;0.966|.	B;B|.	0.41894|.	0.203;0.369|.	T|T	0.53837|0.53837	-0.8382|-0.8382	10|5	0.49607|.	T|.	0.09|.	.|.	17.9436|17.9436	0.89032|0.89032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2361;2361|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	R|Q	2361|1394	ENSP00000340648:G2361R;ENSP00000262854:G2361R|.	ENSP00000262854:G2361R|.	G|R	-|-	1|2	0|0	HUWE1|HUWE1	53607456|53607456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.089000|5.089000	0.64492|0.64492	2.513000|2.513000	0.84729|0.84729	0.600000|0.600000	0.82982|0.82982	GGA|CGG		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53590731	C	T	53590731	3	4	140	1	0	0	0	0	1	0	0	0	7461	661	23	2	6175	2	HUWE1	23	53590731	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	4477493	53590731	101679829	63	9583											
AWAT2	158835	broad.mit.edu	37	chrX	69261810	69261810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcattggtagaggctcccCgactgccaggggagacagtg	8	6	17	10	1	0	2	0	0	0	2	1	4	1	2	3	5	1	3	3	5	1	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69261810C>T	ENST00000276101.3	-	7	855	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	284					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AGAGGCTCCCCGACTGCCAGG	0.502																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(850-852)Ggg>Agg		Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.							100	78	86					X																	69261810		2203	4300	6503	SO:0001583	missense	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69261810C>T	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.850G>A	X.37:g.69261810C>T	ENSP00000421172:p.Gly284Arg						p.G284R	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			6	856	-			284					Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	c.850G>A	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943284	0.73672	.	.	ENSG00000147160	ENST00000276101	T	0.37752	1.18	4.18	3.24	0.37175	.	0.074338	0.56097	N	0.000029	T	0.64023	0.2561	H	0.96547	3.84	0.58432	D	0.999998	D	0.69078	0.997	P	0.59825	0.864	T	0.70769	-0.4782	10	0.87932	D	0	.	8.3263	0.32158	0.0:0.8643:0.0:0.1357	.	284	Q6E213	AWAT2_HUMAN	R	284	ENSP00000421172:G284R	ENSP00000421172:G284R	G	-	1	0	AWAT2	69178535	0.998000	0.40836	0.809000	0.32408	0.973000	0.67179	4.146000	0.58072	0.996000	0.38943	0.600000	0.82982	GGG		0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		T	69261810	C	T	69261810	3	4	140	1	0	0	0	0	1	0	0	0	1235	652	23	2	155	2	AWAT2	23	69261810	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	15671079	69261810	86008750	64	9584											
OTUD6A	139562	broad.mit.edu	37	chrX	69282974	69282974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcgactccttcggctaCgacgacttcatgatctactg	9	10	8	14	4	2	1	1	1	1	0	4	4	3	1	2	1	3	1	2	1	2	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69282974C>T	ENST00000338352.2	+	1	634	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	200	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTCGGCTACGACGACTTCA	0.622																																						uc004dxu.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(598-600)taC>taT		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							68	60	63					X																	69282974		2203	4300	6503	SO:0001819	synonymous_variant	139562							g.chrX:69282974C>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.600C>T	X.37:g.69282974C>T							p.Y200Y	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			0	634	+			200			OTU.		B2RPB7	Silent	SNP	ENST00000338352.2	37	c.600C>T	CCDS14395.1																																																																																				0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		T	69282974	C	T	69282974	2	4	140	1	0	0	0	0	0	0	0	1	11316	547	19	1		1	OTUD6A	23	69282974	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	21164	69282974	85987586	65	9585											
P2RY10	27334	broad.mit.edu	37	chrX	78216461	78216461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagactggaagcgtaggtaCgatgtgggcatcagtgctgc	10	8	16	7	2	1	1	1	0	0	1	1	4	1	2	0	3	4	4	0	3	3	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:78216461C>T	ENST00000171757.2	+	4	724	c.444C>T	c.(442-444)taC>taT	p.Y148Y	P2RY10_ENST00000544091.1_Silent_p.Y148Y|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.Y148Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCGTAGGTACGATGTGGGCA	0.498																																						uc022bzl.1																			1	Substitution - coding silent(1)	p.Y148Y(2)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(442-444)taC>taT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							109	96	101					X																	78216461		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216461C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.444C>T	X.37:g.78216461C>T						P2RY10_uc004ede.3_Silent_p.Y148Y|P2RY10_uc004edf.3_Silent_p.Y148Y	p.Y148Y	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	444	+			148					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.444C>T	CCDS14442.1																																																																																				0.498	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			T	78216461	C	T	78216461	2	4	140	1	0	0	0	0	0	0	0	1	11347	547	19	1		1	P2RY10	23	78216461	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	8933487	78216461	77054099	66	9586											
PEX14	5195	broad.mit.edu	37	chr1	10683104	10683104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccccctcatcctgggcgGccgagaggacagaaagcagc	9	4	13	15	2	1	2	1	0	0	2	3	4	3	3	4	3	2	2	4	3	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:10683104G>T	ENST00000356607.4	+	6	493	c.413G>T	c.(412-414)gGc>gTc	p.G138V	PEX14_ENST00000538836.1_Missense_Mutation_p.G74V	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	138					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGGGCGGCCGAGAGGAC	0.557																																						uc001arn.3																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(412-414)gGc>gTc		Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.							58	57	57					1																	10683104		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10683104G>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.413G>T	1.37:g.10683104G>T	ENSP00000349016:p.Gly138Val					PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.3_Missense_Mutation_p.G74V|PEX14_uc010oam.2_Missense_Mutation_p.G74V|PEX14_uc010oan.2_Missense_Mutation_p.G95V|PEX14_uc009vmw.3_Missense_Mutation_p.G74V	p.G138V	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	5	434	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	138					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.413G>T	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817066	0.70912	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.34275	1.37;1.37	5.27	5.27	0.74061	.	0.044135	0.85682	D	0.000000	T	0.57213	0.2038	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.974	D;D;P	0.97110	0.94;1.0;0.521	T	0.50311	-0.8843	10	0.27785	T	0.31	.	18.8981	0.92432	0.0:0.0:1.0:0.0	.	95;74;138	O75381-2;B7Z4Z4;O75381	.;.;PEX14_HUMAN	V	138;74	ENSP00000349016:G138V;ENSP00000444877:G74V	ENSP00000349016:G138V	G	+	2	0	PEX14	10605691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.411000	0.97342	2.446000	0.82766	0.655000	0.94253	GGC		0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			T	10683104	G	T	10683104	3	4	141	1	0	0	0	0	1	0	0	0	11742	1203	42	5	435	5	PEX14	1	10683104	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		10683104	238567517	1	9587											
CLCNKB	1188	broad.mit.edu	37	chr1	16378220	16378220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagctgctatcgggcGcctctttggggagactctct	5	10	14	12	2	2	1	0	0	2	1	4	3	2	2	2	4	2	2	2	4	1	2	rs201540273		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:16378220G>A	ENST00000375679.4	+	14	1424	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269H	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	438			R -> C (in BS3). {ECO:0000269|PubMed:9326936}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R438H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCTATCGGGCGCCTCTTTGGG	0.622																																						uc001axx.4																			1	Substitution - Missense(1)	p.R438H(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19	GRCh37	CM004244	CLCNKB	M		c.(1312-1314)cGc>cAc		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	90	91	91		1313,806	4.1	1	1		91	0,8600		0,0,4300	yes	missense,missense	CLCNKB	NM_000085.3,NM_001165945.1	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	438/688,269/519	16378220	2,13004	2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16378220G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1313G>A	1.37:g.16378220G>A	ENSP00000364831:p.Arg438His					CLCNKA_uc021ogl.1_Missense_Mutation_p.R85H|CLCNKA_uc021ogm.1_Missense_Mutation_p.R269H|CLCNKA_uc001axy.4_Missense_Mutation_p.R269H	p.R438H	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	13	1449	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	438					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1313G>A	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.035387	0.75617	4.54E-4	0.0	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.95103	-3.61;-3.61	4.05	4.05	0.47172	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97855	1.0277	10	0.87932	D	0	.	14.0643	0.64819	0.0:0.0:1.0:0.0	.	269;438	Q5T5Q7;P51801	.;CLCKB_HUMAN	H	438;310;269	ENSP00000364831:R438H;ENSP00000364819:R269H	ENSP00000332055:R310H	R	+	2	0	CLCNKB	16250807	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.405000	0.73272	1.964000	0.57103	0.455000	0.32223	CGC		0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		A	16378220	G	A	16378220	3	1	141	1	0	0	0	0	1	0	0	0	3470	1087	38	1	1511	1	CLCNKB	1	16378220	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	5695116	16378220	232872401	2	9588											
SRRM1	10250	broad.mit.edu	37	chr1	24996658	24996658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaagggtctcatcctcccGatctgtctccgggtctcctg	6	11	10	14	2	4	1	1	0	4	1	9	2	6	1	4	2	0	0	4	2	2	0	rs201082864		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:24996658G>A	ENST00000323848.9	+	15	2567	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	SRRM1_ENST00000447431.2_Missense_Mutation_p.R763Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R760Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	751	Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCATCCTCCCGATCTGTCTCC	0.532																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2251-2253)cGa>cAa		Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.							153	153	153					1																	24996658		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24996658G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2252G>A	1.37:g.24996658G>A	ENSP00000326261:p.Arg751Gln					SRRM1_uc010oel.2_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	p.R751Q	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	14	2476	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	751			Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2252G>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284457	0.80803	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56941	0.64;0.43;0.46	5.94	5.94	0.96194	.	0.000000	0.50627	D	0.000114	T	0.39332	0.1074	N	0.19112	0.55	0.80722	D	1	P;P	0.52170	0.951;0.918	B;B	0.35859	0.212;0.105	T	0.47355	-0.9124	10	0.72032	D	0.01	-1.3715	20.3736	0.98901	0.0:0.0:1.0:0.0	.	763;751	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	751;763;760	ENSP00000326261:R751Q;ENSP00000391430:R763Q;ENSP00000363510:R760Q	ENSP00000326261:R751Q	R	+	2	0	SRRM1	24869245	0.999000	0.42202	0.983000	0.44433	0.993000	0.82548	6.862000	0.75484	2.820000	0.97059	0.650000	0.86243	CGA		0.532	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		A	24996658	G	A	24996658	3	1	141	1	0	0	0	0	1	0	0	0	15167	1058	37	2	2310	2	SRRM1	1	24996658	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	8618438	24996658	224253963	3	9589											
TAL1	6886	broad.mit.edu	37	chr1	47685764	47685764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcagcttgcggagctcGgcaaaggccccgttcacatt	8	8	13	12	3	2	0	2	0	0	0	3	2	2	2	2	4	3	4	2	4	1	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:47685764G>A	ENST00000294339.3	-	4	1200	c.624C>T	c.(622-624)gcC>gcT	p.A208A	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.A210A|TAL1_ENST00000371884.2_Silent_p.A208A	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	208	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCGGAGCTCGGCAAAGGCCC	0.572			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																	uc001cqx.2				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"TRD@, SIL"		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(622-624)gcC>gcT		Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.							55	53	54					1																	47685764		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685764G>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.624C>T	1.37:g.47685764G>A						TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	p.A208A	NM_003189	NP_003180	P17542	TAL1_HUMAN			3	1201	-			208			Helix-loop-helix motif.		D3DQ24	Silent	SNP	ENST00000294339.3	37	c.624C>T	CCDS547.1																																																																																				0.572	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		A	47685764	G	A	47685764	2	1	141	1	0	0	0	0	0	0	0	1	15538	1103	39	2		2	TAL1	1	47685764	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	22689106	47685764	201564857	4	9590											
L1TD1	54596	broad.mit.edu	37	chr1	62675593	62675593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaagaggaagagttttccGagctagaggagctggatgaa	13	8	14	6	1	1	4	1	1	0	3	2	8	2	7	1	3	2	3	1	3	4	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:62675593G>A	ENST00000498273.1	+	4	1442	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	383	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGAGTTTTCCGAGCTAGAGGA	0.488																																						uc021ooc.1																			0		p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1147-1149)Gag>Aag		Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.							72	82	78					1																	62675593		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62675593G>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1147G>A	1.37:g.62675593G>A	ENSP00000419901:p.Glu383Lys					L1TD1_uc001dae.4_Missense_Mutation_p.E383K	p.E383K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN			4	1582	+			383			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1147G>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024967	0.35701	.	.	ENSG00000240563	ENST00000498273	T	0.09350	2.99	3.42	1.48	0.22813	.	.	.	.	.	T	0.06280	0.0162	N	0.24115	0.695	0.09310	N	1	D	0.53745	0.962	B	0.38458	0.274	T	0.32428	-0.9907	9	0.62326	D	0.03	.	6.0483	0.19772	0.2369:0.0:0.7631:0.0	.	383	Q5T7N2	LITD1_HUMAN	K	383	ENSP00000419901:E383K	ENSP00000419901:E383K	E	+	1	0	L1TD1	62448181	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.206000	0.09398	0.443000	0.26582	0.462000	0.41574	GAG		0.488	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		A	62675593	G	A	62675593	3	1	141	1	0	0	0	0	1	0	0	0	8589	1059	37	2	1153	2	L1TD1	1	62675593	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	14989829	62675593	186575028	5	9591											
PPFIA4	8497	broad.mit.edu	37	chr1	203029484	203029484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccggctcaagctccGcctggccattcaggagatgg	7	7	12	15	2	2	1	2	0	0	1	3	2	3	1	5	4	2	3	5	4	1	1	rs373538808		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:203029484G>A	ENST00000447715.2	+	27	3098	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	PPFIA4_ENST00000414050.2_Missense_Mutation_p.R615H|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R887H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R402H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R402H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R402H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	886	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCAAGCTCCGCCTGGCCATT	0.612																																						uc009xaj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3097-3099)cGc>cAc		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	75	84	81		1205	5.3	1	1		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPFIA4	NM_015053.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	402/702	203029484	1,13005	2203	4300	6503	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203029484G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2657G>A	1.37:g.203029484G>A	ENSP00000402576:p.Arg886His					PPFIA4_uc010pqf.2_Missense_Mutation_p.R615H|PPFIA4_uc001gyz.3_Missense_Mutation_p.R402H|PPFIA4_uc001gza.3_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H	p.R1033H			O75335	LIPA4_HUMAN			26	3098	+			402					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.3098G>A		.	.	.	.	.	.	.	.	.	.	g	36	5.758291	0.96898	0.0	1.16E-4	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.29	5.29	0.74685	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.42682	D	0.000668	T	0.71160	0.3307	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.995;1.0;1.0	T	0.74237	-0.3730	10	0.87932	D	0	-31.9562	18.7481	0.91802	0.0:0.0:1.0:0.0	.	615;886;97;402;402	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	H	887;886;402;615;402	ENSP00000356209:R887H;ENSP00000402576:R886H;ENSP00000295706:R402H;ENSP00000400379:R615H;ENSP00000272198:R402H	ENSP00000272198:R402H	R	+	2	0	PPFIA4	201296107	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.541000	0.98083	2.751000	0.94390	0.645000	0.84053	CGC		0.612	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		A	203029484	G	A	203029484	3	1	141	1	0	0	0	0	1	0	0	0	12312	1087	38	1	1239	1	PPFIA4	1	203029484	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	140353891	203029484	46221137	6	9592											
TET3	200424	broad.mit.edu	37	chr2	74274539	74274539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggcaccctcttcctccCcggccccggccccatcccct	3	7	8	23	2	1	0	0	0	1	0	4	1	4	1	10	4	0	1	10	4	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:74274539C>T	ENST00000409262.3	+	1	1090	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	364					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTTCCTCCCCGGCCCCGGC	0.652																																						uc002skb.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1090-1092)Ccg>Tcg		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.							27	33	31					2																	74274539		1984	4139	6123	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274539C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1090C>T	2.37:g.74274539C>T	ENSP00000386869:p.Pro364Ser					TET3_uc010fez.2_Missense_Mutation_p.P364S	p.P364S	NM_144993	NP_659430	O43151	TET3_HUMAN			0	1090	+			364					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1090C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	0.717	-0.785056	0.02907	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.21543	2.0;2.83	5.18	4.3	0.51218	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.25498	N	0.987587	B	0.17852	0.024	B	0.12837	0.008	T	0.29181	-1.0020	9	0.23302	T	0.38	.	4.6276	0.12486	0.154:0.6129:0.1494:0.0837	.	364	O43151	TET3_HUMAN	S	406;364;364	ENSP00000307803:P406S;ENSP00000386869:P364S	ENSP00000233310:P364S	P	+	1	0	TET3	74128047	0.000000	0.05858	0.953000	0.39169	0.078000	0.17371	0.703000	0.25646	1.309000	0.44985	-0.136000	0.14681	CCG		0.652	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74274539	C	T	74274539	3	4	141	1	0	0	0	0	1	0	0	0	15768	623	22	3	1092	3	TET3	2	74274539	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		74274539	168924834	7	9593											
FAM123C	205147	broad.mit.edu	37	chr2	131521195	131521195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgcgccgaggccccaCgccccgtgccccacccaccc	4	3	10	24	4	0	0	0	0	0	0	0	1	0	0	9	2	2	1	9	2	0	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:131521195C>T	ENST00000423981.1	+	2	1660	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	AMER3_ENST00000321420.4_Missense_Mutation_p.T517M	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	517					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CGAGGCCCCACGCCCCGTGCC	0.687																																						uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1549-1551)aCg>aTg		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							6	6	6					2																	131521195		2121	4139	6260	SO:0001583	missense	205147							g.chr2:131521195C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1550C>T	2.37:g.131521195C>T	ENSP00000392700:p.Thr517Met					FAM123C_uc002trw.2_Missense_Mutation_p.T517M|FAM123C_uc010fmv.2_Missense_Mutation_p.T517M|FAM123C_uc010fms.1_Missense_Mutation_p.T517M|FAM123C_uc010fmt.1_Missense_Mutation_p.T517M|FAM123C_uc010fmu.1_Missense_Mutation_p.T517M	p.T517M	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1550	+	Colorectal(110;0.1)		517					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1550C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448441	0.26074	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.44881	0.91;0.91	4.04	-3.56	0.04626	.	1.573170	0.03869	N	0.275309	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.14090	-1.0485	10	0.46703	T	0.11	.	1.0461	0.01570	0.3157:0.2201:0.3135:0.1507	.	517	Q8N944	F123C_HUMAN	M	517	ENSP00000314914:T517M;ENSP00000392700:T517M	ENSP00000314914:T517M	T	+	2	0	FAM123C	131237665	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.133000	0.10451	-0.630000	0.05567	-1.134000	0.01955	ACG		0.687	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131521195	C	T	131521195	3	4	141	1	0	0	0	0	1	0	0	0	5424	536	19	1	1552	1	FAM123C	2	131521195	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	57246656	131521195	111678178	8	9594											
THSD7B	80731	broad.mit.edu	37	chr2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgctgagcgagtggaCggagtggtcatcctgttccc	5	11	15	10	2	1	1	1	1	0	0	3	4	3	3	2	3	2	2	2	3	0	1	rs61741154	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:137988713C>T	ENST00000409968.1	+	8	2001	c.1823C>T	c.(1822-1824)aCg>aTg	p.T608M	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T608M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T577M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	608	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.T608M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517																																						uc002tva.1																			1	Substitution - Missense(1)	p.T608M(1)	prostate(1)	NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1729-1731)aCg>aTg		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.		C	MET/THR	0,3986		0,0,1993	81	82	82		1730	5	1	2	dbSNP_129	82	3,8313		0,3,4155	yes	missense	THSD7B	NM_001080427.1	81	0,3,6148	TT,TC,CC		0.0361,0.0,0.0244	probably-damaging	577/1578	137988713	3,12299	1993	4158	6151	SO:0001583	missense	80731							g.chr2:137988713C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1823C>T	2.37:g.137988713C>T	ENSP00000387145:p.Thr608Met					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T467M	p.T577M	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1730	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1730C>T		.	.	.	.	.	.	.	.	.	.	C	23.6	4.436908	0.83885	0.0	3.61E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61980	0.06;0.06;0.06	5.89	4.99	0.66335	.	0.098252	0.64402	D	0.000001	T	0.79335	0.4428	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.67900	0.954;0.72	T	0.82705	-0.0325	10	0.72032	D	0.01	.	14.2204	0.65823	0.0:0.9259:0.0:0.0741	rs61741154	608;577	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	608;608;577	ENSP00000387145:T608M;ENSP00000272643:T608M;ENSP00000413841:T577M	ENSP00000272643:T608M	T	+	2	0	THSD7B	137705183	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.092000	0.71414	1.436000	0.47453	0.563000	0.77884	ACG		0.517	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	137988713	C	T	137988713	3	4	141	1	0	0	0	0	1	0	0	0	15877	536	19	1	1756	1	THSD7B	2	137988713	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	6467518	137988713	105210660	9	9595											
XIRP2	129446	broad.mit.edu	37	chr2	168101235	168101235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctttatgaaaaagtttcGttaatgaccagcagtgaaga	14	13	8	6	1	1	4	0	3	1	1	3	4	1	4	1	0	1	3	1	0	5	4	rs377465352		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:168101235G>A	ENST00000409195.1	+	9	3422	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	XIRP2_ENST00000409273.1_Silent_p.S889S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S1111S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	936					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAAGTTTCGTTAATGACCA	0.368																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3331-3333)tcG>tcA		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							49	45	46					2																	168101235		1825	4077	5902	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101235G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3333G>A	2.37:g.168101235G>A						XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S936S|XIRP2_uc010fpq.3_Silent_p.S889S|XIRP2_uc010fpr.3_Intron	p.S1111S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3422	+			936					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.3333G>A	CCDS42769.1																																																																																				0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168101235	G	A	168101235	2	1	141	1	0	0	0	0	0	0	0	1	17427	1132	40	1		1	XIRP2	2	168101235	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	30112522	168101235	75098138	10	9596											
TTN	7273	broad.mit.edu	37	chr2	179647001	179647001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggggctttgggttgccGccaacttggcatccaaacac	9	9	11	12	1	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	3	rs141768043		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:179647001G>A	ENST00000591111.1	-	20	3542	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_ENST00000342992.6_Silent_p.G1106G|TTN_ENST00000359218.5_Silent_p.G1060G|TTN_ENST00000460472.2_Silent_p.G1060G|TTN_ENST00000360870.5_Silent_p.G1106G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Silent_p.G1106G|TTN_ENST00000342175.6_Silent_p.G1060G			Q8WZ42	TITIN_HUMAN	titin	33325	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(3316-3318)ggC>ggT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,,	3,4403	6.2+/-15.9	0,3,2200	83	81	81		3180,3318,3318,3180,3180	-11.2	0.1	2	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	1060/26927,1106/33424,1106/5605,1060/27052,1060/27119	179647001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647001G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3318C>T	2.37:g.179647001G>A						TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		19	3543	-			1106			Ig-like 4.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3318C>T																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179647001	G	A	179647001	2	1	141	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	11545766	179647001	63552372	11	9597											
TIPARP	25976	broad.mit.edu	37	chr3	156422618	156422618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtggaaagcatgctacaAtgtttggacaaggcagttat	12	12	11	6	0	1	0	0	0	1	0	1	2	1	2	0	3	3	5	0	3	5	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:156422618A>G	ENST00000461166.1	+	6	2260	c.1672A>G	c.(1672-1674)Atg>Gtg	p.M558V	TIPARP_ENST00000295924.7_Missense_Mutation_p.M558V|TIPARP_ENST00000486483.1_Missense_Mutation_p.M558V|TIPARP_ENST00000542783.1_Missense_Mutation_p.M558V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	558	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCATGCTACAATGTTTGGACA	0.408																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1672-1674)Atg>Gtg		Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.							172	172	172					3																	156422618		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156422618A>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1672A>G	3.37:g.156422618A>G	ENSP00000420612:p.Met558Val					TIPARP_uc003faw.3_Missense_Mutation_p.M558V|TIPARP_uc021xgg.1_Missense_Mutation_p.M558V	p.M558V	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	2094	+			558			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1672A>G	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.47|10.47	1.360309|1.360309	0.24598|0.24598	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48;2.48|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Poly(ADP-ribose) polymerase, catalytic domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49983|0.49983	0.1589|0.1589	N|N	0.16743|0.16743	0.435|0.435	0.53005|0.53005	D|D	0.999966|0.999966	B|.	0.29646|.	0.253|.	B|.	0.33042|.	0.157|.	T|T	0.47235|0.47235	-0.9133|-0.9133	10|5	0.02654|.	T|.	1|.	.|.	15.7658|15.7658	0.78126|0.78126	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q7Z3E1|.	PARPT_HUMAN|.	V|S	558|260	ENSP00000418757:M558V;ENSP00000295924:M558V;ENSP00000420612:M558V;ENSP00000418829:M558V;ENSP00000438345:M558V|.	ENSP00000295924:M558V|.	M|N	+|+	1|2	0|0	TIPARP|TIPARP	157905312|157905312	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	7.576000|7.576000	0.82467|0.82467	2.201000|2.201000	0.70794|0.70794	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.408	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		G	156422618	A	G	156422618	3	3	141	1	0	0	0	0	1	0	0	0	15921	101	4	4	1690	4	TIPARP	3	156422618	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08		156422618	41599812	12	9598											
VPS8	23355	broad.mit.edu	37	chr3	184648300	184648300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatatcttatccattcccGgacacagtgcagaggagaag	14	8	9	10	1	1	2	0	0	1	2	3	4	3	3	2	2	1	1	2	2	4	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:184648300G>A	ENST00000437079.3	+	34	3013	c.2842G>A	c.(2842-2844)Gga>Aga	p.G948R	VPS8_ENST00000436792.2_Missense_Mutation_p.G946R|VPS8_ENST00000446204.2_Missense_Mutation_p.G856R|VPS8_ENST00000287546.4_Missense_Mutation_p.G948R|VPS8_ENST00000463687.1_3'UTR	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	948							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCCATTCCCGGACACAGTGC	0.393																																						uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2842-2844)Gga>Aga		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.							173	163	166					3																	184648300		1965	4156	6121	SO:0001583	missense	23355						zinc ion binding	g.chr3:184648300G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2842G>A	3.37:g.184648300G>A	ENSP00000397879:p.Gly948Arg					VPS8_uc003fpb.1_Missense_Mutation_p.G946R|VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	p.G948R	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		32	2930	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		948					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2842G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150517	0.94645	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19250	2.17;2.17;2.17;2.16	5.9	5.9	0.94986	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.987;0.997;0.997	P;P;P	0.62014	0.544;0.897;0.832	T	0.02004	-1.1231	10	0.15066	T	0.55	-1.6049	19.8893	0.96923	0.0:0.0:1.0:0.0	.	948;856;946	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	R	948;948;946;856	ENSP00000287546:G948R;ENSP00000397879:G948R;ENSP00000404704:G946R;ENSP00000405483:G856R	ENSP00000287546:G948R	G	+	1	0	VPS8	186130994	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.971000	0.93419	2.788000	0.95919	0.650000	0.86243	GGA		0.393	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		A	184648300	G	A	184648300	3	1	141	1	0	0	0	0	1	0	0	0	17215	1117	39	2	2968	2	VPS8	3	184648300	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	28225682	184648300	13374130	13	9599											
C4orf35	85438	broad.mit.edu	37	chr4	71201281	71201281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgctggtgttgctgaCgctcctgcctttccacgtaa	6	12	11	12	2	0	1	0	1	0	0	2	1	2	1	3	1	4	6	3	1	1	3	rs541997419	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:71201281C>T	ENST00000273936.5	+	1	599	c.525C>T	c.(523-525)gaC>gaT	p.D175D		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	175					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGTTGCTGACGCTCCTGCCT	0.463													C|||	3	0.000599042	0	0	5008	,	,		21294	0		0	False		,,,				2504	0.0031					uc003hff.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(523-525)gaC>gaT		Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.							54	58	57					4																	71201281		2200	4297	6497	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201281C>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.525C>T	4.37:g.71201281C>T						CABS1_uc021xoz.1_Silent_p.D175D	p.D175D	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			0	611	+			175					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.525C>T	CCDS3539.1																																																																																				0.463	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		T	71201281	C	T	71201281	2	4	141	1	0	0	0	0	0	0	0	1	2265	535	19	1		1	C4orf35	4	71201281	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		71201281	119952995	14	9600											
FGG	2266	broad.mit.edu	37	chr4	155528020	155528020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcactaggatcatcGccaaaatcaaagccatcaaa	17	8	5	11	1	4	0	4	0	0	0	5	1	4	1	2	1	2	0	2	1	6	2	rs146218442		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:155528020G>A	ENST00000336098.3	-	8	1004	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_ENST00000404648.3_Silent_p.G322G|FGG_ENST00000405164.1_Silent_p.G330G|FGG_ENST00000407946.1_Silent_p.G330G	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	322	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(964-966)ggC>ggT		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)	G	,	0,4406		0,0,2203	241	212	222		966,966	-11.6	0.9	4	dbSNP_134	222	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FGG	NM_000509.4,NM_021870.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	322/438,322/454	155528020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528020G>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.966C>T	4.37:g.155528020G>A						FGG_uc003iog.3_Silent_p.G322G	p.G322G	NM_021870	NP_068656	P02679	FIBG_HUMAN			7	1107	-	all_hematologic(180;0.215)	Renal(120;0.0458)	322			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.966C>T	CCDS3788.1																																																																																				0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		A	155528020	G	A	155528020	2	1	141	1	0	0	0	0	0	0	0	1	5870	1074	38	1		1	FGG	4	155528020	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	84326739	155528020	35626256	15	9601											
NKD2	85409	broad.mit.edu	37	chr5	1033572	1033572	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagggcagcaaaccgCgagggcccgcgaggaccggg	10	0	20	11	5	0	1	0	0	0	1	0	6	0	3	3	5	2	2	3	5	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:1033572C>G	ENST00000296849.5	+	5	517	c.288C>G	c.(286-288)cgC>cgG	p.R96R	NKD2_ENST00000537972.1_Silent_p.R96R|NKD2_ENST00000274150.4_Silent_p.R96R	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	96	Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692																																						uc003jbt.1																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(286-288)cgC>cgG		Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.							21	27	25					5																	1033572		2148	4224	6372	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1033572C>G	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.288C>G	5.37:g.1033572C>G						NKD2_uc010itf.1_Silent_p.R96R	p.R96R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		4	293	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		96			Targeting to the basolateral cell membrane.		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.288C>G	CCDS3859.1																																																																																				0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		G	1033572	C	G	1033572	2	3	141	1	0	0	0	0	0	0	0	1	10442	755	27	5		5	NKD2	5	1033572	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		1033572	179881688	16	9602											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741624	140741624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacgcggcccgccagcGcctgctggtcgctgtgcgtg	3	6	17	15	6	0	0	0	0	0	0	1	1	0	1	3	3	3	2	3	3	0	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:140741624G>A	ENST00000522605.1	+	1	1922	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCCAGCGCCTGCTGGTC	0.687																																						uc003ljs.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1921-1923)cGc>cAc		Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.							14	17	16					5																	140741624		1876	4081	5957	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741624G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1922G>A	5.37:g.140741624G>A	ENSP00000429018:p.Arg641His					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.R641H|PCDHGC5_uc011das.2_5'Flank	p.R641H	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1922	+			643			Cadherin 6.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1922G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	17.44	3.390391	0.62066	.	.	ENSG00000253910	ENST00000522605	T	0.51817	0.69	5.05	4.16	0.48862	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50086	0.1595	L	0.37800	1.135	0.23624	N	0.99727	P;D	0.53619	0.935;0.961	P;P	0.55222	0.462;0.771	T	0.36817	-0.9732	9	0.72032	D	0.01	.	9.4548	0.38747	0.1617:0.0:0.8383:0.0	.	641;641	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	H	641	ENSP00000429018:R641H	ENSP00000429018:R641H	R	+	2	0	PCDHGB2	140721808	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	0.548000	0.23314	2.510000	0.84645	0.454000	0.30748	CGC		0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140741624	G	A	140741624	3	1	141	1	0	0	0	0	1	0	0	0	11563	1087	38	1	1924	1	PCDHGB2	5	140741624	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	139708052	140741624	40173636	17	9603											
KIF4B	285643	broad.mit.edu	37	chr5	154396976	154396976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaagaagactgctccagCtccctccccttttgacctcc	8	10	6	17	0	1	3	1	1	0	2	5	3	5	3	6	0	2	2	6	0	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:154396976C>A	ENST00000435029.4	+	1	3717	c.3557C>A	c.(3556-3558)gCt>gAt	p.A1186D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1186	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCTCCAGCTCCCTCCCCT	0.493																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3556-3558)gCt>gAt		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							69	73	72					5																	154396976		2201	4300	6501	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396976C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3557C>A	5.37:g.154396976C>A	ENSP00000387875:p.Ala1186Asp						p.A1186D	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3717	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1186			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3557C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	C	5.314	0.243200	0.10077	.	.	ENSG00000226650	ENST00000435029	T	0.46819	0.86	1.77	0.876	0.19138	.	.	.	.	.	T	0.34454	0.0898	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22836	-1.0205	9	0.36615	T	0.2	.	6.2959	0.21085	0.0:0.8228:0.0:0.1772	.	1186	Q2VIQ3	KIF4B_HUMAN	D	1186	ENSP00000387875:A1186D	ENSP00000387875:A1186D	A	+	2	0	KIF4B	154377169	0.337000	0.24766	0.002000	0.10522	0.004000	0.04260	1.728000	0.38105	0.303000	0.22785	-0.253000	0.11424	GCT		0.493	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154396976	C	A	154396976	3	1	141	1	0	0	0	0	1	0	0	0	8304	797	28	5	3559	5	KIF4B	5	154396976	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	13655352	154396976	26518284	18	9604											
DUSP22	56940	broad.mit.edu	37	chr6	335117	335117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttattattctgcagggaGttaaatacctgtgcatccca	10	16	7	8	0	1	0	0	0	1	0	2	1	2	1	2	1	3	3	2	1	5	7			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:335117G>T	ENST00000344450.5	+	4	585	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F	DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.V48F|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000603453.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	48					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTGCAGGGAGTTAAATACCT	0.299																																						uc003msx.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(142-144)Gtt>Ttt		Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.							59	64	62					6																	335117		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:335117G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.142G>T	6.37:g.335117G>T	ENSP00000345281:p.Val48Phe					DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	p.V48F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	581	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	48					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.142G>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392224	0.62066	.	.	ENSG00000112679	ENST00000344450	T	0.60040	0.22	5.79	3.93	0.45458	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.087493	0.48286	D	0.000181	T	0.28234	0.0697	N	0.05592	-0.015	0.43054	D	0.994663	B;D;P	0.58268	0.066;0.982;0.954	B;P;P	0.57620	0.017;0.824;0.568	T	0.34576	-0.9823	10	0.02654	T	1	.	9.882	0.41238	0.0795:0.1424:0.7781:0.0	.	48;5;48	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	F	48	ENSP00000345281:V48F	ENSP00000345281:V48F	V	+	1	0	DUSP22	280117	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.112000	0.41892	2.749000	0.94314	0.491000	0.48974	GTT		0.299	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		T	335117	G	T	335117	3	4	141	1	0	0	0	0	1	0	0	0	4821	1029	36	5	156	5	DUSP22	6	335117	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		335117	170779950	19	9605											
HFE	3077	broad.mit.edu	37	chr6	26091215	26091215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagccccgaactccatggGtttccagtagaatttcaagc	10	10	10	11	1	1	1	1	0	0	1	3	3	3	2	4	2	3	2	4	2	4	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:26091215G>A	ENST00000357618.5	+	2	345	c.223G>A	c.(223-225)Gtt>Att	p.V75I	HFE_ENST00000309234.6_Missense_Mutation_p.V75I|HFE_ENST00000336625.8_Missense_Mutation_p.V75I|HFE_ENST00000352392.4_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.V75I|HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.V75I|HFE_ENST00000461397.1_Missense_Mutation_p.V75I|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.V52I|HFE_ENST00000353147.5_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCCATGGGTTTCCAGTAG	0.488									Hemochromatosis																													uc003nfx.1																			0				endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(223-225)Gtt>Att		Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.							100	97	98					6																	26091215		2203	4300	6503	SO:0001583	missense	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091215G>A		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.223G>A	6.37:g.26091215G>A	ENSP00000417404:p.Val75Ile					HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	p.V75I	NM_000410	NP_000401	Q30201	HFE_HUMAN			1	383	+			75			Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	c.223G>A	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	G	2.851	-0.238366	0.05944	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	T;T;T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85;5.85;5.85	5.3	-10.3	0.00346	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.907150	0.02517	N	0.092133	T	0.00178	0.0005	N	0.13003	0.285	0.09310	N	0.999996	B;B;B;B;B;B	0.11235	0.0;0.002;0.004;0.0;0.0;0.0	B;B;B;B;B;B	0.12156	0.004;0.005;0.007;0.002;0.002;0.003	T	0.43925	-0.9361	10	0.18276	T	0.48	.	10.8081	0.46529	0.5234:0.3704:0.1062:0.0	.	75;75;75;75;52;75	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	I	52;75;75;75;75;75;75;75	ENSP00000380217:V52I;ENSP00000313776:V75I;ENSP00000417404:V75I;ENSP00000419725:V75I;ENSP00000337819:V75I;ENSP00000420802:V75I;ENSP00000311698:V75I	ENSP00000311698:V75I	V	+	1	0	HFE	26199194	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	-1.246000	0.02896	-1.876000	0.01131	0.655000	0.94253	GTT		0.488	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			A	26091215	G	A	26091215	3	1	141	1	0	0	0	0	1	0	0	0	7081	1261	44	3	229	3	HFE	6	26091215	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	25756098	26091215	145023852	20	9606											
C6orf170	221322	broad.mit.edu	37	chr6	121625568	121625568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatattcatttagaagaCgaacctacaaagcagtgcac	15	10	7	9	1	2	3	1	1	1	2	2	4	2	3	1	0	4	2	1	0	6	5	rs377465896		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:121625568C>T	ENST00000398212.2	-	8	927	c.878G>A	c.(877-879)cGt>cAt	p.R293H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R293H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	293					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTTAGAAGACGAACCTACAA	0.358																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(877-879)cGt>cAt		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.		C	HIS/ARG	0,3634		0,0,1817	86	82	83		878	5.1	1	6		83	1,8163		0,1,4081	no	missense	C6orf170	NM_152730.4	29	0,1,5898	TT,TC,CC		0.0122,0.0,0.0085	probably-damaging	293/1258	121625568	1,11797	1817	4082	5899	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121625568C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.878G>A	6.37:g.121625568C>T	ENSP00000381270:p.Arg293His					C6orf170_uc003pyq.1_Non-coding_Transcript	p.R293H	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	7	946	-			293					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.878G>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796645	0.90453	0.0	1.22E-4	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26810	1.71;1.71	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.40515	-0.9559	10	0.45353	T	0.12	1.3238	18.4025	0.90522	0.0:1.0:0.0:0.0	.	293	Q96NH3	BROMI_HUMAN	H	293	ENSP00000275159:R293H;ENSP00000381270:R293H	ENSP00000275159:R293H	R	-	2	0	C6orf170	121667267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.460000	0.80816	2.316000	0.78162	0.650000	0.86243	CGT		0.358	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		T	121625568	C	T	121625568	3	4	141	1	0	0	0	0	1	0	0	0	2344	536	19	1	2995	1	C6orf170	6	121625568	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	95534353	121625568	49489499	21	9607											
RBAK	57786	broad.mit.edu	37	chr7	5097035	5097035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgttggagaactataGccatctagtttctgtgggtg	8	15	13	5	0	2	2	0	1	2	1	2	3	2	2	1	2	2	2	1	2	4	5			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:5097035G>A	ENST00000353796.3	+	4	449	c.125G>A	c.(124-126)aGc>aAc	p.S42N	RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.S42N|RBAK_ENST00000396912.1_Missense_Mutation_p.S42N|RBAK-RBAKDN_ENST00000396904.2_Missense_Mutation_p.S42N	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAACTATAGCCATCTAGTT	0.433																																						uc021zzc.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(124-126)aGc>aAc		Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.							264	264	264					7																	5097035		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5097035G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.125G>A	7.37:g.5097035G>A	ENSP00000275423:p.Ser42Asn					RBAK_uc003snr.3_Missense_Mutation_p.S42N|RBAK_uc010kss.1_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	p.S42N	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	2	307	+		Ovarian(82;0.0175)	42			KRAB.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.125G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	6.045	0.376698	0.11466	.	.	ENSG00000146587	ENST00000407184;ENST00000353796;ENST00000396904;ENST00000396912	T;T;T;T	0.02050	4.48;4.48;4.48;4.48	2.88	0.0287	0.14159	Krueppel-associated box (4);	0.275268	0.26359	N	0.024825	T	0.03477	0.0100	M	0.80028	2.48	0.26497	N	0.974838	B	0.12630	0.006	B	0.13407	0.009	T	0.06862	-1.0803	9	0.38643	T	0.18	.	5.8623	0.18754	0.5488:0.0:0.4512:0.0	.	42	Q9NYW8	RBAK_HUMAN	N	42	ENSP00000385560:S42N;ENSP00000275423:S42N;ENSP00000380112:S42N;ENSP00000380120:S42N	ENSP00000275423:S42N	S	+	2	0	RBAK	5063561	0.006000	0.16342	0.097000	0.21041	0.014000	0.08584	0.715000	0.25822	-0.014000	0.14175	-0.259000	0.10710	AGC		0.433	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		A	5097035	G	A	5097035	3	1	141	1	0	0	0	0	1	0	0	0	13100	971	34	3	131	3	RBAK	7	5097035	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		5097035	154041628	22	9608											
PDGFRL	5157	broad.mit.edu	37	chr8	17447275	17447275	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaaggattctcgcctcagGtaagcatttttttttaaaac	11	17	6	7	1	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	4	9			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr8:17447275G>A	ENST00000541323.1	+	3	798		c.e3+1		PDGFRL_ENST00000251630.6_Splice_Site|PDGFRL_ENST00000398074.3_Splice_Site	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like						G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTCGCCTCAGGTAAGCATTTT	0.403																																						uc003wxr.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.e3+1		Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.							60	57	58					8																	17447275		2195	4287	6482	SO:0001630	splice_region_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447275G>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.353+1G>A	8.37:g.17447275G>A							p.S118_splice	NM_006207	NP_006198	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	798	+			118			Ig-like C2-type 1.		A8K085|Q6FH04	Splice_Site	SNP	ENST00000541323.1	37	c.353_splice	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325832	0.41197	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2415	0.87014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDGFRL	17491535	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	9.173000	0.94815	2.378000	0.81104	0.579000	0.79373	.		0.403	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207	Intron	A	17447275	G	A	17447275	5	1	141	1	0	0	0	0	0	0	1	0	11663	1275	44	3	360	3	PDGFRL	8	17447275	Splice_Site	SNP	G	TCGA-14-1825-01A-01W-0643-08		17447275	128916747	23	9609											
RANBP6	26953	broad.mit.edu	37	chr9	6014248	6014248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccatggtacgtaacaGagctgcaatcactgtttcat	11	14	7	9	1	2	1	2	0	0	1	3	1	3	1	1	1	4	5	1	1	3	5			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:6014248G>T	ENST00000259569.5	-	1	1370	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	454					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTACGTAACAGAGCTGCAATC	0.413																																						uc003zjr.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1360-1362)Ctg>Atg		Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.							64	63	63					9																	6014248		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014248G>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1360C>A	9.37:g.6014248G>T	ENSP00000259569:p.Leu454Met					RANBP6_uc011lmf.2_Missense_Mutation_p.L102M|RANBP6_uc003zjs.3_3'UTR	p.L454M	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	0	1393	-		Acute lymphoblastic leukemia(23;0.158)	454					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1360C>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985686	0.35036	.	.	ENSG00000137040	ENST00000259569	T	0.49432	0.78	4.21	-1.16	0.09678	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.90369	3.11	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.78314	0.98;0.991	T	0.67780	-0.5582	10	0.66056	D	0.02	-4.8422	8.5278	0.33315	0.4949:0.0:0.5051:0.0	.	42;454	B4DTX6;O60518	.;RNBP6_HUMAN	M	454	ENSP00000259569:L454M	ENSP00000259569:L454M	L	-	1	2	RANBP6	6004248	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.385000	0.44371	-0.160000	0.11002	-0.355000	0.07637	CTG		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		T	6014248	G	T	6014248	3	4	141	1	0	0	0	0	1	0	0	0	13031	933	33	5	1961	5	RANBP6	9	6014248	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		6014248	135199183	24	9610											
PLIN2	123	broad.mit.edu	37	chr9	19120899	19120899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagttcttcctcagtgagagGgaggtactgttctaccaaca	10	12	10	9	0	3	1	1	1	2	1	4	3	4	2	2	2	3	3	2	2	4	6			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:19120899G>A	ENST00000276914.2	-	5	753	c.574C>T	c.(574-576)Cct>Tct	p.P192S	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	192					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAGTGAGAGGGAGGTACTGT	0.403																																						uc003zno.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(574-576)Cct>Tct		Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.							118	108	112					9																	19120899		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19120899G>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.574C>T	9.37:g.19120899G>A	ENSP00000276914:p.Pro192Ser					PLIN2_uc011lna.2_Missense_Mutation_p.P164S|PLIN2_uc011lnb.2_Intron	p.P192S	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			4	784	-			192					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.574C>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780291	0.90195	.	.	ENSG00000147872	ENST00000276914	T	0.54071	0.59	4.86	4.86	0.63082	.	0.220853	0.47852	N	0.000214	T	0.78400	0.4277	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82364	-0.0494	10	0.59425	D	0.04	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	192	Q99541	PLIN2_HUMAN	S	192	ENSP00000276914:P192S	ENSP00000276914:P192S	P	-	1	0	PLIN2	19110899	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.567000	0.98161	2.712000	0.92718	0.650000	0.86243	CCT		0.403	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		A	19120899	G	A	19120899	3	1	141	1	0	0	0	0	1	0	0	0	12090	1232	43	3	755	3	PLIN2	9	19120899	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	13106651	19120899	122092532	25	9611											
TMOD1	7111	broad.mit.edu	37	chr9	100353675	100353675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttacccagcaaggacccCggcttcgggcatccaacgca	10	6	9	16	3	0	0	0	0	0	0	2	1	1	1	4	3	3	4	4	3	3	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:100353675C>T	ENST00000259365.4	+	9	1186	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TMOD1_ENST00000375175.1_Missense_Mutation_p.R198W|TMOD1_ENST00000395211.2_Missense_Mutation_p.R325W	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	325					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAAGGACCCCGGCTTCGGGC	0.512																																						uc004axl.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(973-975)Cgg>Tgg		Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.							98	95	96					9																	100353675		2203	4300	6503	SO:0001583	missense	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100353675C>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.973C>T	9.37:g.100353675C>T	ENSP00000259365:p.Arg325Trp					TMOD1_uc004axk.2_Missense_Mutation_p.R325W	p.R325W	NM_001166116	NP_003266	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	8	1109	+		Acute lymphoblastic leukemia(62;0.154)	325					B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	c.973C>T	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617308	0.87359	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.95103	-3.61;-3.61;-3.61	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.97489	0.9178	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97957	1.0335	10	0.87932	D	0	-14.4527	14.7121	0.69241	0.1456:0.8544:0.0:0.0	.	325	P28289	TMOD1_HUMAN	W	325;325;198	ENSP00000378637:R325W;ENSP00000259365:R325W;ENSP00000364318:R198W	ENSP00000259365:R325W	R	+	1	2	TMOD1	99393496	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.772000	0.47678	2.680000	0.91292	0.467000	0.42956	CGG		0.512	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		T	100353675	C	T	100353675	3	4	141	1	0	0	0	0	1	0	0	0	16230	643	23	2	1003	2	TMOD1	9	100353675	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	81232776	100353675	40859756	26	9612											
SLC44A1	23446	broad.mit.edu	37	chr9	108110683	108110683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagccttctgaatacactAcatctccaaaatcttctgtt	13	14	3	11	0	4	1	0	1	4	0	5	1	4	1	2	0	3	1	2	0	7	6			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:108110683A>G	ENST00000374720.3	+	5	698	c.451A>G	c.(451-453)Aca>Gca	p.T151A	SLC44A1_ENST00000374723.1_Missense_Mutation_p.T151A|SLC44A1_ENST00000374724.1_Missense_Mutation_p.T151A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	151					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGAATACACTACATCTCCAAA	0.373																																						uc004bcn.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(451-453)Aca>Gca		Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	Choline(DB00122)						128	125	126					9																	108110683		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108110683A>G	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.451A>G	9.37:g.108110683A>G	ENSP00000363852:p.Thr151Ala						p.T151A	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			4	672	+			151					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.451A>G	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	A	6.058	0.379040	0.11466	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.79033	-1.23;-1.23;-1.23	5.09	1.1	0.20463	.	0.437631	0.25909	N	0.027519	T	0.51346	0.1669	N	0.12853	0.265	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.14643	-1.0465	10	0.16420	T	0.52	-13.807	3.4462	0.07481	0.6479:0.1451:0.0757:0.1313	.	151;151	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	A	151	ENSP00000363855:T151A;ENSP00000363852:T151A;ENSP00000363856:T151A	ENSP00000363852:T151A	T	+	1	0	SLC44A1	107150504	0.021000	0.18746	0.483000	0.27378	0.978000	0.69477	2.396000	0.44468	0.255000	0.21593	0.533000	0.62120	ACA		0.373	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		G	108110683	A	G	108110683	3	3	141	1	0	0	0	0	1	0	0	0	14635	391	14	4	469	4	SLC44A1	9	108110683	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	7757008	108110683	33102748	27	9613											
MED22	6837	broad.mit.edu	37	chr9	136211100	136211100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctggttgcgctggtcaAtggcctcgttcacggagggg	4	10	17	10	3	2	0	2	0	0	0	3	1	2	1	1	6	2	5	1	6	1	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:136211100A>G	ENST00000491289.1	-	4	874	c.293T>C	c.(292-294)aTt>aCt	p.I98T	MED22_ENST00000344469.5_Missense_Mutation_p.I98T|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Missense_Mutation_p.I98T|MED22_ENST00000371999.1_Missense_Mutation_p.I92T|MED22_ENST00000343730.5_Missense_Mutation_p.I98T			Q15528	MED22_HUMAN	mediator complex subunit 22	98						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCGCTGGTCAATGGCCTCGTT	0.602																																						uc004cdc.3																			0		p.A97V(1)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4						c.(292-294)aTt>aCt		Homo sapiens mediator complex subunit 22 (MED22), transcript variant b, mRNA.							134	109	118					9																	136211100		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136211100A>G		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.293T>C	9.37:g.136211100A>G	ENSP00000420393:p.Ile98Thr					MED22_uc004cdd.3_Missense_Mutation_p.I98T	p.I98T	NM_133640	NP_598395	Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	3	527	-			98					B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.293T>C	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928024	0.52759	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	4.84	4.84	0.62591	.	0.095312	0.64402	D	0.000001	T	0.72415	0.3457	M	0.78049	2.395	0.80722	D	1	P;P	0.46784	0.69;0.884	B;P	0.51895	0.346;0.683	T	0.76258	-0.3025	9	0.56958	D	0.05	-10.2873	13.617	0.62115	1.0:0.0:0.0:0.0	.	98;98	Q15528-2;Q15528	.;MED22_HUMAN	T	98;98;98;98;98;92;98;98;98	.	ENSP00000342343:I98T	I	-	2	0	MED22	135200921	1.000000	0.71417	0.958000	0.39756	0.352000	0.29268	8.839000	0.92120	1.822000	0.53115	0.533000	0.62120	ATT		0.602	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		G	136211100	A	G	136211100	3	3	141	1	0	0	0	0	1	0	0	0	9440	101	4	4	327	4	MED22	9	136211100	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	28100417	136211100	5002331	28	9614											
THNSL1	79896	broad.mit.edu	37	chr10	25313035	25313035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtagaaagagcacagataCtgttggaaagatgtatccat	16	9	10	6	1	0	4	0	0	0	4	1	5	1	5	1	1	2	4	1	1	5	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr10:25313035C>A	ENST00000524413.1	+	3	1230	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	THNSL1_ENST00000376356.4_Missense_Mutation_p.L295M			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	295						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGCACAGATACTGTTGGAAAG	0.458																																						uc001isi.4																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(883-885)Ctg>Atg		Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						88	88	88					10																	25313035		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313035C>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.883C>A	10.37:g.25313035C>A	ENSP00000434887:p.Leu295Met					ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.L295M	p.L295M	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			2	1212	+			295					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.883C>A	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740868	0.30865	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.31510	1.49;1.49	5.71	1.15	0.20763	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.152059	0.42682	D	0.000665	T	0.33177	0.0854	M	0.63843	1.955	0.27636	N	0.947873	P	0.51653	0.947	P	0.47528	0.549	T	0.21690	-1.0238	10	0.87932	D	0	-19.4524	7.9464	0.29989	0.5152:0.2831:0.2016:0.0	.	295	Q8IYQ7	THNS1_HUMAN	M	295	ENSP00000434887:L295M;ENSP00000365534:L295M	ENSP00000365534:L295M	L	+	1	2	THNSL1	25353041	0.128000	0.22383	0.159000	0.22649	0.746000	0.42486	0.505000	0.22642	0.302000	0.22762	-0.188000	0.12872	CTG		0.458	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		A	25313035	C	A	25313035	3	1	141	1	0	0	0	0	1	0	0	0	15859	564	20	5	885	5	THNSL1	10	25313035	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		25313035	110221712	29	9615											
OR52R1	119695	broad.mit.edu	37	chr11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaatggcttggtgttGgcagaagggcatcctagaca	9	9	16	7	0	0	2	0	0	0	2	1	3	1	3	1	6	0	4	1	6	3	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:4825094G>T	ENST00000356069.2	-	1	516	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	OR52R1_ENST00000380382.1_Missense_Mutation_p.Q252K|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGGTGTTGGCAGAAGGGC	0.552																																						uc021qcs.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(517-519)Caa>Aaa		Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.							143	113	123					11																	4825094		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825094G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.517C>A	11.37:g.4825094G>T	ENSP00000348368:p.Gln173Lys						p.Q173K	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	517	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	173					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.517C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.185097	0.00305	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.35973	1.28;1.28	5.57	0.456	0.16655	GPCR, rhodopsin-like superfamily (1);	1.065120	0.07380	N	0.887325	T	0.14442	0.0349	N	0.04959	-0.14	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28713	-1.0035	10	0.08599	T	0.76	.	3.8514	0.08957	0.1376:0.3619:0.3765:0.1241	.	173	Q8NGF1	O52R1_HUMAN	K	173;252	ENSP00000348368:Q173K;ENSP00000369742:Q252K	ENSP00000348368:Q173K	Q	-	1	0	OR52R1	4781670	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.391000	0.07323	-0.054000	0.13266	-0.172000	0.13284	CAA		0.552	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		T	4825094	G	T	4825094	3	4	141	1	0	0	0	0	1	0	0	0	11131	1357	47	5	433	5	OR52R1	11	4825094	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		4825094	130181422	30	9616											
APBB1	322	broad.mit.edu	37	chr11	6424912	6424912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggctgctcccctgtgaggGggaggcccggccggggggtt	2	6	22	11	2	0	1	0	1	0	0	1	2	1	2	4	9	1	3	4	9	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:6424912G>A	ENST00000609360.1	-	3	961	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608645.1_Missense_Mutation_p.P29S|APBB1_ENST00000389906.2_Missense_Mutation_p.P288S|APBB1_ENST00000299402.6_Missense_Mutation_p.P288S|APBB1_ENST00000530885.1_Missense_Mutation_p.P68S|APBB1_ENST00000311051.3_Missense_Mutation_p.P288S|APBB1_ENST00000608394.1_Missense_Mutation_p.P29S|APBB1_ENST00000608704.1_Missense_Mutation_p.P29S|APBB1_ENST00000608655.1_Missense_Mutation_p.P68S|APBB1_ENST00000609331.1_Missense_Mutation_p.P53S	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	288					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(862-864)Ccc>Tcc		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.							39	46	43					11																	6424912		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6424912G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.862C>T	11.37:g.6424912G>A	ENSP00000477213:p.Pro288Ser					APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	p.P288S	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	962	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	288					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.862C>T		.	.	.	.	.	.	.	.	.	.	G	9.629	1.136025	0.21123	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.17213	2.56;2.56;2.57;2.31;2.29	4.52	4.52	0.55395	.	0.465805	0.21797	N	0.068962	T	0.09818	0.0241	N	0.14661	0.345	0.21064	N	0.999798	B;B;B;B	0.30326	0.276;0.248;0.16;0.113	B;B;B;B	0.32090	0.066;0.14;0.066;0.113	T	0.26087	-1.0113	10	0.09338	T	0.73	-7.6356	12.5927	0.56451	0.0:0.0:1.0:0.0	.	137;53;68;288	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	S	288;288;288;137;29;53;68;29	ENSP00000299402:P288S;ENSP00000311912:P288S;ENSP00000374556:P288S;ENSP00000433338:P68S;ENSP00000437114:P29S	ENSP00000299402:P288S	P	-	1	0	APBB1	6381488	0.967000	0.33354	0.980000	0.43619	0.846000	0.48090	1.987000	0.40687	2.332000	0.79248	0.305000	0.20034	CCC		0.652	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		A	6424912	G	A	6424912	3	1	141	1	0	0	0	0	1	0	0	0	759	1232	43	3	1318	3	APBB1	11	6424912	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1599818	6424912	128581604	31	9617											
OR5M1	390168	broad.mit.edu	37	chr11	56380529	56380529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccactaagaaacccataCatgtaagggatagtgaccag	17	6	8	10	0	0	2	0	1	0	1	0	3	0	3	3	1	3	1	3	1	6	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:56380529C>T	ENST00000526538.1	-	1	449	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAACCCATACATGTAAGGGA	0.458																																						uc001nja.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(448-450)atG>atA		Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.							114	101	105					11																	56380529		1946	4155	6101	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380529C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.450G>A	11.37:g.56380529C>T	ENSP00000435416:p.Met150Ile					OR8U8_uc001nit.2_Intron	p.M150I	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			0	450	-			150					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.450G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.661459	0.00107	.	.	ENSG00000255012	ENST00000526538	T	0.32753	1.44	3.71	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	2.374970	0.01978	N	0.044578	T	0.12347	0.0300	N	0.03084	-0.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.05525	T	0.97	-1.0438	7.5286	0.27671	0.2483:0.6137:0.138:0.0	.	150	Q8NGP8	OR5M1_HUMAN	I	150	ENSP00000435416:M150I	ENSP00000435416:M150I	M	-	3	0	OR5M1	56137105	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-5.246000	0.00138	-0.148000	0.11234	0.280000	0.19369	ATG		0.458	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		T	56380529	C	T	56380529	3	4	141	1	0	0	0	0	1	0	0	0	11172	478	17	3	501	3	OR5M1	11	56380529	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	49955617	56380529	78625987	32	9618											
NUMA1	4926	broad.mit.edu	37	chr11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccccactggacacccCggcctgggaacgacgagcag	9	2	15	15	3	0	0	0	0	0	0	0	4	0	2	5	5	2	1	5	5	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:71717105C>T	ENST00000393695.3	-	22	5999	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_ENST00000358965.6_Missense_Mutation_p.G1876R|NUMA1_ENST00000351960.6_Missense_Mutation_p.G754R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5668-5670)Ggg>Agg		Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.							56	67	63					11																	71717105		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717105C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5668G>A	11.37:g.71717105C>T	ENSP00000377298:p.Gly1890Arg					NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	p.G1890R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			21	5840	-			1890						Missense_Mutation	SNP	ENST00000393695.3	37	c.5668G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	6.536	0.467063	0.12402	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.16743	2.32;2.8;2.8	5.11	-0.59	0.11679	.	0.373945	0.24282	N	0.039900	T	0.05823	0.0152	N	0.04508	-0.205	0.19775	N	0.999952	B;B;B;B	0.32425	0.035;0.002;0.035;0.371	B;B;B;B	0.26770	0.006;0.004;0.006;0.073	T	0.39820	-0.9595	10	0.25106	T	0.35	.	9.2436	0.37511	0.0:0.4204:0.0:0.5796	.	1896;1876;1890;754	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	R	754;1876;1890;1439;863	ENSP00000260051:G754R;ENSP00000351851:G1876R;ENSP00000377298:G1890R	ENSP00000260051:G754R	G	-	1	0	NUMA1	71394753	0.538000	0.26394	0.194000	0.23346	0.844000	0.47949	0.772000	0.26647	0.005000	0.14708	0.655000	0.94253	GGG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71717105	C	T	71717105	3	4	141	1	0	0	0	0	1	0	0	0	10750	652	23	2	703	2	NUMA1	11	71717105	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	15336576	71717105	63289411	33	9619											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctccatctgccaCgggctgcaacatacaatggc	9	7	9	16	1	1	0	0	0	1	0	2	0	2	0	4	2	6	2	4	2	3	1	rs371697073		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:130281492C>T	ENST00000257359.6	-	6	2276	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	524	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													C|||	1	0.000199681	0	0	5008	,	,		19254	0.001		0	False		,,,				2504	0					uc001qgg.4																			2	Substitution - Missense(2)	p.V553M(1)|p.V524M(1)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1570-1572)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.		C	MET/VAL	1,4041		0,1,2020	46	49	48		1570	1.7	0.9	11		48	0,8364		0,0,4182	no	missense	ADAMTS8	NM_007037.4	21	0,1,6202	TT,TC,CC		0.0,0.0247,0.0081	benign	524/890	130281492	1,12405	2021	4182	6203	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281492C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1570G>A	11.37:g.130281492C>T	ENSP00000257359:p.Val524Met					ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	p.V524M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1928	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	524			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1570G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454419	0.26161	2.47E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.61158	0.13	5.87	1.73	0.24493	.	0.400931	0.26349	N	0.024882	T	0.27489	0.0675	N	0.03608	-0.345	0.22213	N	0.999287	B;B	0.25955	0.138;0.005	B;B	0.20184	0.028;0.003	T	0.16453	-1.0402	10	0.66056	D	0.02	.	4.285	0.10850	0.1098:0.469:0.2867:0.1345	.	524;5	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	524;553	ENSP00000257359:V524M	ENSP00000257359:V524M	V	-	1	0	ADAMTS8	129786702	0.000000	0.05858	0.932000	0.37286	0.531000	0.34715	-0.362000	0.07602	0.395000	0.25257	-0.238000	0.12139	GTG		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		T	130281492	C	T	130281492	3	4	141	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	58564387	130281492	4725024	34	9620											
MLL2	8085	broad.mit.edu	37	chr12	49420539	49420539	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccgccctgggtctcAtacacctccgtggaccaaag	8	7	10	16	2	1	0	1	0	1	0	3	1	2	1	6	2	2	0	6	2	2	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:49420539A>T	ENST00000301067.7	-	48	15209	c.15210T>A	c.(15208-15210)taT>taA	p.Y5070*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5070					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTGGGTCTCATACACCTCCG	0.632																																						uc001rta.4										"N, F, Mis"							"medulloblastoma, renal"		0		p.R5070*(1)|p.A5069V(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(15208-15210)taT>taA		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							49	54	52					12																	49420539		2069	4196	6265	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420539A>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15210T>A	12.37:g.49420539A>T	ENSP00000301067:p.Tyr5070*	HNSCC(34;0.089)					p.Y5070*	NM_003482	NP_003473	O14686	MLL2_HUMAN			47	15210	-			5070					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.15210T>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	55	24.043634	0.99958	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.62	2.22	0.28083	.	0.000000	0.34853	N	0.003632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7578	0.23524	0.708:0.0:0.292:0.0	.	.	.	.	X	5070	.	ENSP00000301067:Y5070X	Y	-	3	2	MLL2	47706806	0.690000	0.27699	1.000000	0.80357	0.996000	0.88848	-0.062000	0.11674	0.729000	0.32403	0.533000	0.62120	TAT		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49420539	A	T	49420539	4	4	141	1	0	0	0	0	0	1	0	0	9621	224	8	5	1431	5	MLL2	12	49420539	Nonsense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08		49420539	84431356	35	9621											
HOXC13	3229	broad.mit.edu	37	chr12	54332758	54332758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtctatgaggacagcgCggcggagagcggcatcggcg	8	5	18	10	7	1	2	0	1	1	1	2	4	1	3	0	5	3	2	0	5	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:54332758C>T	ENST00000243056.3	+	1	224	c.68C>T	c.(67-69)gCg>gTg	p.A23V	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	23					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GAGGACAGCgcggcggagagc	0.672			T	NUP98	AML																																	uc001sei.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(67-69)gCg>gTg		Homo sapiens homeobox C13 (HOXC13), mRNA.							5	5	5					12																	54332758		2075	4078	6153	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54332758C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.68C>T	12.37:g.54332758C>T	ENSP00000243056:p.Ala23Val						p.A23V	NM_017410	NP_059106	P31276	HXC13_HUMAN			0	183	+			23					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.68C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	8.294	0.818311	0.16607	.	.	ENSG00000123364	ENST00000243056	D	0.92965	-3.14	3.28	3.28	0.37604	.	0.081384	0.49916	D	0.000124	T	0.79656	0.4483	N	0.14661	0.345	0.42004	D	0.9909	P	0.34800	0.469	B	0.24394	0.053	T	0.79967	-0.1580	10	0.02654	T	1	.	14.4791	0.67567	0.0:1.0:0.0:0.0	.	23	P31276	HXC13_HUMAN	V	23	ENSP00000243056:A23V	ENSP00000243056:A23V	A	+	2	0	HOXC13	52619025	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.506000	0.45433	2.154000	0.67381	0.462000	0.41574	GCG		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			T	54332758	C	T	54332758	3	4	141	1	0	0	0	0	1	0	0	0	7312	768	27	1	70	1	HOXC13	12	54332758	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	4912219	54332758	79519137	36	9622											
MMP19	4327	broad.mit.edu	37	chr12	56231702	56231702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggggagcccctcccaaaGggcagacactcggaacaagg	11	3	13	14	2	0	1	0	0	0	1	3	3	2	3	4	5	2	1	4	5	3	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:56231702G>C	ENST00000322569.4	-	7	1076	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	MMP19_ENST00000548629.1_Missense_Mutation_p.L306V|MMP19_ENST00000409200.3_Missense_Mutation_p.P282R|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Missense_Mutation_p.L43V	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	329					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CCCTCCCAAAGGGCAGACACT	0.542																																						uc001sib.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(985-987)Ctt>Gtt		Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.							80	81	80					12																	56231702		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231702G>C	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.985C>G	12.37:g.56231702G>C	ENSP00000313437:p.Leu329Val					MMP19_uc001sia.3_Missense_Mutation_p.L43V|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P282R	p.L329V	NM_002429	NP_002420	Q99542	MMP19_HUMAN			6	1106	-			329			Hemopexin-like 1.		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.985C>G	CCDS8895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.455887|2.455887	0.43634|0.43634	.|.	.|.	ENSG00000123342|ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629|ENST00000409200	T;T;T|T	0.08193|0.38887	3.12;3.12;3.12|1.11	5.94|5.94	4.87|4.87	0.63330|0.63330	Hemopexin/matrixin (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.23649|0.23649	0.0572|0.0572	L|L	0.31752|0.31752	0.955|0.955	0.50171|0.50171	D|D	0.999857|0.999857	P;P|P	0.50819|0.42409	0.939;0.669|0.779	P;B|B	0.52189|0.33690	0.692;0.348|0.168	T|T	0.13229|0.13229	-1.0517|-1.0517	10|9	0.49607|0.02654	T|T	0.09|1	.|.	13.2722|13.2722	0.60167|0.60167	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	329;43|282	Q99542;Q99542-3|B4E030	MMP19_HUMAN;.|.	V|R	43;329;306|282	ENSP00000377736:L43V;ENSP00000313437:L329V;ENSP00000446979:L306V|ENSP00000386625:P282R	ENSP00000313437:L329V|ENSP00000386625:P282R	L|P	-|-	1|2	0|0	MMP19|MMP19	54517969|54517969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	5.978000|5.978000	0.70501|0.70501	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CTT|CCT		0.542	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		C	56231702	G	C	56231702	3	2	141	1	0	0	0	0	1	0	0	0	9657	1000	35	5	553	5	MMP19	12	56231702	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1898944	56231702	77620193	37	9623											
PTPRB	5787	broad.mit.edu	37	chr12	70983775	70983775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaacgctcagaattcttCaaatttccactctcaacaat	13	12	4	12	1	4	1	3	0	2	1	6	1	5	1	1	1	2	2	1	1	5	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:70983775C>T	ENST00000261266.5	-	6	1394	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	PTPRB_ENST00000334414.6_Silent_p.L673L|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_Silent_p.L455L|PTPRB_ENST00000551525.1_Silent_p.L672L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550358.1_Silent_p.L673L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	455	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGAATTCTTCAAATTTCCAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1363-1365)ttG>ttA		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							155	158	157					12																	70983775		1967	4153	6120	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983775C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1365G>A	12.37:g.70983775C>T			OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_uc010sto.2_Silent_p.L455L|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Silent_p.L673L|PTPRB_uc001swa.4_Silent_p.L673L|PTPRB_uc001swd.4_Silent_p.L672L|PTPRB_uc009zrr.2_Silent_p.L552L	p.L455L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		5	1395	-	Renal(347;0.236)		455			Fibronectin type-III 5.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1365G>A	CCDS44944.1																																																																																				0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			T	70983775	C	T	70983775	2	4	141	1	0	0	0	0	0	0	0	1	12796	825	29	3		3	PTPRB	12	70983775	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	14752073	70983775	62868120	38	9624											
MYF6	4618	broad.mit.edu	37	chr12	81101567	81101567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaaatgttactctgcaGccattagaagtggcagaagg	13	8	14	6	0	1	2	0	0	1	2	1	3	1	3	1	4	3	3	1	4	6	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:81101567G>A	ENST00000228641.3	+	1	291	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	23					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTACTCTGCAGCCATTAGAAG	0.517																																						uc001szf.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(67-69)caG>caA		Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.							94	98	97					12																	81101567		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101567G>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.69G>A	12.37:g.81101567G>A							p.Q23Q	NM_002469	NP_002460	P23409	MYF6_HUMAN			0	160	+			23					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.69G>A	CCDS9019.1																																																																																				0.517	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		A	81101567	G	A	81101567	2	1	141	1	0	0	0	0	0	0	0	1	10028	962	34	3		3	MYF6	12	81101567	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	10117792	81101567	52750328	39	9625											
AACS	65985	broad.mit.edu	37	chr12	125591804	125591804	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccaagtgcatggtgcAttccgctggggtaggtctct	6	10	13	12	2	1	0	0	0	1	0	3	0	2	0	2	4	2	5	2	4	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:125591804A>C	ENST00000316519.6	+	8	1111	c.905A>C	c.(904-906)cAt>cCt	p.H302P	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.H302P	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	302					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCATGGTGCATTCCGCTGGG	0.607																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(904-906)cAt>cCt		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.							67	61	63					12																	125591804		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125591804A>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.905A>C	12.37:g.125591804A>C	ENSP00000324842:p.His302Pro					AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.H302P|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	p.H302P	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	7	1111	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		302					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.905A>C	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858498	0.71834	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.45	5.45	0.79879	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84146	0.0420	10	0.87932	D	0	.	15.1741	0.72899	1.0:0.0:0.0:0.0	.	302;302	Q86V21-2;Q86V21	.;AACS_HUMAN	P	302;302;158;83;121	ENSP00000324842:H302P;ENSP00000261686:H302P;ENSP00000442956:H83P;ENSP00000392967:H121P	ENSP00000261686:H302P	H	+	2	0	AACS	124157757	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	8.420000	0.90256	2.056000	0.61249	0.459000	0.35465	CAT		0.607	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		C	125591804	A	C	125591804	3	2	141	1	0	0	0	0	1	0	0	0	9	217	8	5	935	5	AACS	12	125591804	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	44490237	125591804	8260091	40	9626											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281611	49281611	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttcacactcagcatcTgttatctgctgatcattcgg	8	16	6	11	1	5	1	3	1	2	0	6	1	5	1	0	1	2	3	0	1	1	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:49281611T>A	ENST00000282018.3	+	1	661	c.658T>A	c.(658-660)Tgt>Agt	p.C220S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	220					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACTCAGCATCTGTTATCTGCT	0.478																																						uc010acw.1																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(658-660)Tgt>Agt		Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	Nedocromil(DB00716)						103	104	103					13																	49281611		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281611T>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.658T>A	13.37:g.49281611T>A	ENSP00000282018:p.Cys220Ser					CYSLTR2_uc010acx.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acy.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C220S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C220S|CYSLTR2_uc010add.1_Missense_Mutation_p.C220S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C220S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C220S	p.C220S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	948	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	220					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.658T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613076	0.87258	.	.	ENSG00000152207	ENST00000282018	T	0.69685	-0.42	5.89	5.89	0.94794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77525	0.4143	M	0.76002	2.32	0.58432	D	0.999998	D	0.63046	0.992	P	0.55871	0.786	T	0.78558	-0.2158	10	0.45353	T	0.12	.	15.497	0.75662	0.0:0.0:0.0:1.0	.	220	Q9NS75	CLTR2_HUMAN	S	220	ENSP00000282018:C220S	ENSP00000282018:C220S	C	+	1	0	CYSLTR2	48179612	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	8.004000	0.88535	2.254000	0.74563	0.533000	0.62120	TGT		0.478	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			A	49281611	T	A	49281611	3	1	141	1	0	0	0	0	1	0	0	0	4202	1580	55	5	660	5	CYSLTR2	13	49281611	Missense_Mutation	SNP	T	TCGA-14-1825-01A-01W-0643-08		49281611	65888267	41	9627											
C13orf16	121793	broad.mit.edu	37	chr13	111995233	111995233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgcgagtcctgggcctCcaagtgctgggccctcgatg	5	8	14	14	2	0	0	0	0	0	0	3	2	2	0	5	2	3	1	5	2	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:111995233C>A	ENST00000283547.1	+	5	499	c.370C>A	c.(370-372)Cca>Aca	p.P124T		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	124						integral component of membrane (GO:0016021)											TCCTGGGCCTCCAAGTGCTGG	0.577																																						uc001vsa.3																			0											c.(370-372)Cca>Aca		Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.							83	77	79					13																	111995233		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111995233C>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.370C>A	13.37:g.111995233C>A	ENSP00000283547:p.Pro124Thr						p.P124T	NM_152324	NP_689537	Q8N6K0	CM016_HUMAN			4	499	+			124						Missense_Mutation	SNP	ENST00000283547.1	37	c.370C>A	CCDS9522.1	.	.	.	.	.	.	.	.	.	.	C	4.940	0.174574	0.09391	.	.	ENSG00000153495	ENST00000283547	.	.	.	1.34	-2.69	0.06022	.	1.251110	0.06138	N	0.671887	T	0.24774	0.0601	N	0.24115	0.695	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.11665	-1.0578	9	0.27785	T	0.31	.	4.6342	0.12516	0.0:0.5143:0.2076:0.278	.	124	Q8N6K0	CM016_HUMAN	T	124	.	ENSP00000283547:P124T	P	+	1	0	C13orf16	110793234	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.952000	0.01528	-1.774000	0.01288	-1.474000	0.01003	CCA		0.577	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		A	111995233	C	A	111995233	3	1	141	1	0	0	0	0	1	0	0	0	1719	855	30	5	384	5	C13orf16	13	111995233	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	62713622	111995233	3174645	42	9628											
ADPRHL1	113622	broad.mit.edu	37	chr13	114079397	114079397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcatcataattgtcGgggaagatggctttattttc	8	17	9	7	1	3	1	1	0	2	1	5	2	3	2	0	3	1	2	0	3	3	7	rs370042842	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:114079397G>A	ENST00000375418.3	-	5	830	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADPRHL1_ENST00000356501.4_Silent_p.P166P	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	248					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATAATTGTCGGGGAAGATGG	0.438													g|||	2	0.000399361	0	0.0014	5008	,	,		10598	0.001		0	False		,,,				2504	0					uc001vtq.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(742-744)ccC>ccT		Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.			,	0,4406		0,0,2203	245	225	232		744,498	-10.4	0.1	13		232	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	ADPRHL1	NM_138430.3,NM_199162.1	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	248/355,166/273	114079397	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114079397G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.744C>T	13.37:g.114079397G>A						ADPRHL1_uc001vtp.1_Silent_p.P166P	p.P248P	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		4	831	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	248					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.744C>T	CCDS9535.1																																																																																				0.438	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		A	114079397	G	A	114079397	2	1	141	1	0	0	0	0	0	0	0	1	332	1103	39	2		2	ADPRHL1	13	114079397	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	2084164	114079397	1090481	43	9629											
AARS	16	broad.mit.edu	37	chr16	70310471	70310471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagtaagtaacataaaGtctttcaatgggaatgccaa	17	9	8	7	0	2	0	1	0	1	0	2	1	2	1	2	1	2	2	2	1	8	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:70310471G>T	ENST00000261772.8	-	4	540	c.397C>A	c.(397-399)Ctt>Att	p.L133I	RN7SL279P_ENST00000582185.1_RNA	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GTAACATAAAGTCTTTCAATG	0.428																																						uc002eyn.1																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(397-399)Ctt>Att		Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	L-Alanine(DB00160)						101	99	99					16																	70310471		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70310471G>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.397C>A	16.37:g.70310471G>T	ENSP00000261772:p.Leu133Ile						p.L133I	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	3	507	-		Ovarian(137;0.0365)	133						Missense_Mutation	SNP	ENST00000261772.8	37	c.397C>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924089	0.92319	.	.	ENSG00000090861	ENST00000261772	T	0.74947	-0.89	6.07	6.07	0.98685	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.84958	0.0875	10	0.54805	T	0.06	-18.0217	11.4039	0.49885	0.0811:0.0:0.9189:0.0	.	133	P49588	SYAC_HUMAN	I	133	ENSP00000261772:L133I	ENSP00000261772:L133I	L	-	1	0	AARS	68867972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.814000	0.75236	2.884000	0.98904	0.655000	0.94253	CTT		0.428	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		T	70310471	G	T	70310471	3	4	141	1	0	0	0	0	1	0	0	0	19	1029	36	5	2581	5	AARS	16	70310471	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		70310471	20044282	44	9630											
MLYCD	23417	broad.mit.edu	37	chr16	83933176	83933176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatcgcggcctcttccacCacatcagcaagctggacggc	8	7	10	16	3	2	0	1	0	1	0	4	1	3	1	3	3	2	3	3	3	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:83933176C>G	ENST00000262430.4	+	1	446	c.427C>G	c.(427-429)Cac>Gac	p.H143D		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	143	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTCTTCCACCACATCAGCAA	0.731																																						uc002fgz.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(427-429)Cac>Gac		Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.							6	8	7					16																	83933176		1640	3571	5211	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83933176C>G	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.427C>G	16.37:g.83933176C>G	ENSP00000262430:p.His143Asp						p.H143D	NM_012213	NP_036345	O95822	DCMC_HUMAN			0	447	+			143					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.427C>G	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197754	0.58126	.	.	ENSG00000103150	ENST00000262430	D	0.89617	-2.54	4.76	2.69	0.31865	.	0.050972	0.85682	D	0.000000	D	0.85852	0.5793	M	0.79805	2.47	0.58432	D	0.999997	P	0.36027	0.533	B	0.33846	0.171	T	0.80696	-0.1267	10	0.45353	T	0.12	-22.7272	4.8618	0.13588	0.1525:0.618:0.1477:0.0818	.	143	O95822	DCMC_HUMAN	D	143	ENSP00000262430:H143D	ENSP00000262430:H143D	H	+	1	0	MLYCD	82490677	0.693000	0.27728	0.998000	0.56505	0.979000	0.70002	1.169000	0.31871	0.486000	0.27676	0.462000	0.41574	CAC		0.731	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		G	83933176	C	G	83933176	3	3	141	1	0	0	0	0	1	0	0	0	9638	594	21	5	429	5	MLYCD	16	83933176	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	13622705	83933176	6421577	45	9631											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	141	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		7577094	73618116	46	9632											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	p.R196*	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	141	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1169	7578263	73616947	47	9633											
PPM1D	8493	broad.mit.edu	37	chr17	58711271	58711271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgacctcgactcactcaCaatggacctgttagaaggag	14	7	9	11	2	2	1	2	0	0	1	3	5	2	3	2	2	1	1	2	2	4	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:58711271C>T	ENST00000305921.3	+	3	991	c.759C>T	c.(757-759)caC>caT	p.H253H		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	253	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACTCACTCACAATGGACCTG	0.363																																						uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(757-759)caC>caT		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.							119	102	108					17																	58711271		2203	4300	6503	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58711271C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.759C>T	17.37:g.58711271C>T						PPM1D_uc010ddm.2_Non-coding_Transcript	p.H253H	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		2	991	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		253			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.759C>T	CCDS11625.1																																																																																				0.363	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		T	58711271	C	T	58711271	2	4	141	1	0	0	0	0	0	0	0	1	12337	477	17	3		3	PPM1D	17	58711271	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	51133008	58711271	22483939	48	9634											
EMILIN2	84034	broad.mit.edu	37	chr18	2847912	2847912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggaaccagatgccCtgtccgtcggcgctggtgta	5	10	14	12	3	0	1	0	0	0	1	2	2	1	2	4	3	3	2	4	3	2	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:2847912C>T	ENST00000254528.3	+	2	399	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	80	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACCAGATGCCCTGTCCGTCGG	0.662																																						uc002kln.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(238-240)ccC>ccT		Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.							61	57	58					18																	2847912		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2847912C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.240C>T	18.37:g.2847912C>T							p.P80P	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	1	399	+			80			EMI.		B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.240C>T	CCDS11828.1																																																																																				0.662	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		T	2847912	C	T	2847912	2	4	141	1	0	0	0	0	0	0	0	1	5094	668	24	3		3	EMILIN2	18	2847912	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		2847912	75229336	49	9635											
TCEB3C	162699	broad.mit.edu	37	chr18	44554653	44554653	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggcagcctgttttcGggttttgtccgcgggcgccg	1	15	14	11	5	1	0	0	0	1	0	3	0	2	0	3	3	1	3	3	3	0	6			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:44554653G>A	ENST00000330682.2	-	1	1796	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCCTGTTTTCGGGTTTTGTcc	0.652																																						uc010xdb.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1561-1563)Cga>Tga		Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.							3	2	2					18																	44554653		634	1215	1849	SO:0001587	stop_gained	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554653G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1561C>T	18.37:g.44554653G>A	ENSP00000328232:p.Arg521*					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.R521*	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			0	1797	-			521						Nonsense_Mutation	SNP	ENST00000330682.2	37	c.1561C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	19.96	3.924007	0.73213	.	.	ENSG00000183791	ENST00000330682	.	.	.	1.55	0.347	0.16022	.	0.378221	0.18051	U	0.153278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1755	4.7065	0.12853	0.0:0.0:0.4652:0.5348	.	.	.	.	X	521	.	ENSP00000328232:R521X	R	-	1	2	TCEB3C	42808651	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.096000	0.11059	0.091000	0.17302	0.485000	0.47835	CGA		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		A	44554653	G	A	44554653	4	1	141	1	0	0	0	0	0	1	0	0	15680	1124	39	2	1726	2	TCEB3C	18	44554653	Nonsense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	41706741	44554653	33522595	50	9636											
C20orf70	140683	broad.mit.edu	37	chr20	31760743	31760743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtttttggcaggcatcCttgagaaactgaaggtcgac	10	12	12	7	1	0	2	0	2	0	1	2	5	1	2	1	3	1	3	1	3	2	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:31760743C>A	ENST00000253362.2	+	3	309	c.163C>A	c.(163-165)Ctt>Att	p.L55I	BPIFA2_ENST00000354932.5_Missense_Mutation_p.L55I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	55						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GGCAGGCATCCTTGAGAAACT	0.483																																						uc002wyo.1																			0											c.(163-165)Ctt>Att		Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.							84	78	80					20																	31760743		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31760743C>A	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.163C>A	20.37:g.31760743C>A	ENSP00000253362:p.Leu55Ile						p.L55I	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			2	234	+			55					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.163C>A	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068250	0.20067	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.19532	2.14;2.14	3.87	-7.74	0.01241	.	2.295750	0.01552	N	0.019719	T	0.17534	0.0421	L	0.50333	1.59	0.09310	N	1	B	0.33345	0.409	B	0.37550	0.253	T	0.16247	-1.0409	10	0.32370	T	0.25	-24.5962	2.9247	0.05780	0.2256:0.1616:0.447:0.1658	.	55	Q96DR5	BPIA2_HUMAN	I	55	ENSP00000253362:L55I;ENSP00000347012:L55I	ENSP00000253362:L55I	L	+	1	0	BPIFA2	31224404	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.769000	0.00371	-1.787000	0.01268	0.561000	0.74099	CTT		0.483	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		A	31760743	C	A	31760743	3	1	141	1	0	0	0	0	1	0	0	0	2116	681	24	5	169	5	C20orf70	20	31760743	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		31760743	31264777	51	9637											
TRPC4AP	26133	broad.mit.edu	37	chr20	33591328	33591328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttgctgtgctccatcCgctgcagcagccgcaggtac	6	10	10	15	2	1	0	0	0	1	0	3	0	3	0	3	1	6	7	3	1	1	3	rs146813768		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:33591328C>T	ENST00000252015.2	-	18	2230	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R675Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R706Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R316Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	714					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCTCCATCCGCTGCAGCAG	0.612																																						uc002xbk.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2140-2142)cGg>cAg		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	43	40	41		2141,2117	3.6	1	20	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRPC4AP	NM_015638.2,NM_199368.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	714/798,706/790	33591328	1,13005	2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33591328C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2141G>A	20.37:g.33591328C>T	ENSP00000252015:p.Arg714Gln					TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Missense_Mutation_p.R305Q|TRPC4AP_uc010zur.2_Missense_Mutation_p.R675Q|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R706Q	p.R714Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		17	2175	-			714					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.2141G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847797	0.51164	0.0	1.16E-4	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.62	3.6	0.41247	.	0.348081	0.31989	N	0.006755	T	0.24314	0.0589	N	0.14661	0.345	0.34804	D	0.737013	B;B;B	0.18968	0.032;0.008;0.015	B;B;B	0.10450	0.005;0.002;0.002	T	0.19647	-1.0299	9	0.30854	T	0.27	.	3.7115	0.08421	0.0:0.6599:0.0:0.34	.	675;706;714	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	Q	714;706;316;675;699	.	ENSP00000252015:R714Q	R	-	2	0	TRPC4AP	33054989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	2.376000	0.81061	0.462000	0.41574	CGG		0.612	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		T	33591328	C	T	33591328	3	4	141	1	0	0	0	0	1	0	0	0	16578	652	23	2	260	2	TRPC4AP	20	33591328	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	1830585	33591328	29434192	52	9638											
TSHZ2	128553	broad.mit.edu	37	chr20	51870234	51870234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtccaatcaggatgcCgagaacgagtctctgctgag	10	10	11	10	2	2	2	1	1	1	1	4	5	3	3	2	1	3	1	2	1	2	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:51870234C>T	ENST00000371497.5	+	2	1124	c.237C>T	c.(235-237)gcC>gcT	p.A79A	TSHZ2_ENST00000329613.6_Silent_p.A76A|TSHZ2_ENST00000603338.2_Silent_p.A76A|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	79					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCAGGATGCCGAGAACGAGT	0.537																																						uc002xwo.3																			0		p.D78N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(235-237)gcC>gcT		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							134	113	120					20																	51870234		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870234C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.237C>T	20.37:g.51870234C>T						TSHZ2_uc021wex.1_Silent_p.A76A	p.A79A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1124	+			79					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.237C>T	CCDS33490.1																																																																																				0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51870234	C	T	51870234	2	4	141	1	0	0	0	0	0	0	0	1	16621	639	23	2		2	TSHZ2	20	51870234	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	18278906	51870234	11155286	53	9639											
MC3R	4159	broad.mit.edu	37	chr20	54824418	54824418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgggtctgctgcggCgtctgtggcgtggtgttcat	2	13	16	10	3	4	0	1	0	3	0	4	0	4	0	1	4	2	2	1	4	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:54824418C>T	ENST00000243911.2	+	1	631	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	173					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCTGCGGCGTCTGTGGCG	0.562																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(517-519)ggC>ggT		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							211	193	199					20																	54824418		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824418C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.519C>T	20.37:g.54824418C>T							p.G173G	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	631	+			210					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.519C>T	CCDS13449.2																																																																																				0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824418	C	T	54824418	2	4	141	1	0	0	0	0	0	0	0	1	9365	755	27	1		1	MC3R	20	54824418	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	2954184	54824418	8201102	54	9640											
BAGE2	85319	broad.mit.edu	37	chr21	11058294	11058294	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagcatttgatagtGgctccaaagtgcttacaaaa	13	12	7	9	0	2	1	1	1	1	0	3	1	3	1	1	1	3	3	1	1	5	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr21:11058294G>A	ENST00000470054.1	-	0	353							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTGATAGTGGCTCCAAAGT	0.403																																						uc002yiu.1																			0													Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							130	98	108					21																	11058294		692	1591	2283			85319					extracellular region		g.chr21:11058294G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058294G>A						BAGE_uc002yit.1_Missense_Mutation_p.P49L|BAGE_uc002yiv.1_3'UTR|BAGE_uc002yiw.1_Non-coding_Transcript		NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	2		-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11058294	G	A	11058294	1	1	141	0	1	0	0	0	0	0	0	0	1292	1348	47	3		3	BAGE2	21	11058294	RNA	SNP	G	TCGA-14-1825-01A-01W-0643-08		11058294	37071601	55	9641											
ACR	49	broad.mit.edu	37	chr22	51183292	51183292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccacctcccaccactcGaccgcccccgattcgacccc	6	5	4	26	4	0	0	0	0	0	0	4	3	2	0	10	0	0	0	10	0	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr22:51183292G>A	ENST00000216139.5	+	5	963	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	308					acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCACTCGACCGCCCCCG	0.602																																						uc003bnh.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(922-924)cGa>cAa		Homo sapiens acrosin (ACR), mRNA.							24	22	22					22																	51183292		2187	4293	6480	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51183292G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.923G>A	22.37:g.51183292G>A	ENSP00000216139:p.Arg308Gln						p.R308Q	NM_001097	NP_001088	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	4	935	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	308					Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.923G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	1.376	-0.584688	0.03827	.	.	ENSG00000100312	ENST00000216139	D	0.88046	-2.33	1.7	-3.39	0.04868	.	4.786120	0.00567	N	0.000295	T	0.70124	0.3188	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.62001	-0.6946	10	0.12766	T	0.61	4.3093	3.8934	0.09128	0.3159:0.4988:0.1852:0.0	.	308	P10323	ACRO_HUMAN	Q	308	ENSP00000216139:R308Q	ENSP00000216139:R308Q	R	+	2	0	ACR	49530158	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.266000	0.01171	-0.883000	0.03982	-0.680000	0.03767	CGA		0.602	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		A	51183292	G	A	51183292	3	1	141	1	0	0	0	0	1	0	0	0	169	1058	37	2	941	2	ACR	22	51183292	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		51183292	121274	56	9642											
CFP	5199	broad.mit.edu	37	chrX	47486279	47486279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacgtccgttgttccatgGtctggcccaggccacaggtc	5	10	12	14	2	1	0	0	0	1	0	4	0	3	0	4	4	1	3	4	4	0	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:47486279G>T	ENST00000396992.3	-	6	953	c.833C>A	c.(832-834)aCc>aAc	p.T278N	CFP_ENST00000247153.3_Missense_Mutation_p.T278N|CFP_ENST00000377005.2_Missense_Mutation_p.T278N|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	278	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGTTCCATGGTCTGGCCCAG	0.662																																						uc004dih.3																			0		p.Q277H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(832-834)aCc>aAc		Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.							30	28	29					X																	47486279		2203	4297	6500	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486279G>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.833C>A	X.37:g.47486279G>T	ENSP00000380189:p.Thr278Asn					CFP_uc004dig.4_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	p.T278N	NM_002621	NP_002612	P27918	PROP_HUMAN			6	1075	-			278			TSP type-1 4.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.833C>A	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	2.622	-0.288369	0.05605	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.33	-2.29	0.06805	.	0.615517	0.18277	N	0.146129	T	0.33000	0.0848	L	0.42632	1.34	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.18561	0.022;0.009	T	0.17319	-1.0373	10	0.15066	T	0.55	.	3.7857	0.08700	0.4619:0.0:0.2449:0.2932	.	214;278	B3KVK6;P27918	.;PROP_HUMAN	N	278;278;278;143	ENSP00000380189:T278N;ENSP00000247153:T278N;ENSP00000366204:T278N;ENSP00000418258:T143N	ENSP00000247153:T278N	T	-	2	0	CFP	47371223	0.000000	0.05858	0.022000	0.16811	0.610000	0.37248	-0.259000	0.08721	-0.287000	0.09064	0.529000	0.55759	ACC		0.662	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		T	47486279	G	T	47486279	3	4	141	1	0	0	0	0	1	0	0	0	3293	1261	44	5	592	5	CFP	23	47486279	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		47486279	107784281	57	9643											
SLC35A2	7355	broad.mit.edu	37	chrX	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-																															agacacctgcgaagccggagGagagacaggaggccacgacg																										TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:48762551_48762552delGA	ENST00000247138.5	-	4	637_638	c.634_635delTC	c.(634-636)tccfs	p.S213fs	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000376521.1_Frame_Shift_Del_p.S213fs|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	213			S -> F (in CDG2M). {ECO:0000269|PubMed:24115232}.		galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649																																						uc011mmm.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(718-720)tccfs		Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762551_48762552delGA	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.634_635delTC	X.37:g.48762555_48762556delGA	ENSP00000247138:p.Ser213fs					SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	p.S240fs	NM_001042498	NP_001035963	P78381	S35A2_HUMAN			4	1040_1041	-			212					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Frame_Shift_Del	DEL	ENST00000247138.5	37	c.718_719delTC	CCDS14311.1																																																																																				0.649	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		-	48762552	GA	-	48762551	7	5	141	1	0	1	0	1	0	0	0	0	14571	1174	41	0	719	0	SLC35A2	23	48762551	Frame_Shift_Del	DEL	GA	TCGA-14-1825-01A-01W-0643-08	1276272	48762551	106508009	58	9644											
ITIH5L	347365	broad.mit.edu	37	chrX	54777770	54777770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtctggtccttgtggccCggccttggtggtgcgccaag	3	10	16	12	3	1	0	0	0	1	0	2	1	2	0	4	5	1	0	4	5	1	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:54777770C>T	ENST00000218436.6	-	12	3425	c.3396G>A	c.(3394-3396)ccG>ccA	p.P1132P		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1132					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCTTGTGGCCCGGCCTTGGTG	0.572																																						uc004dtj.2																			0											c.(3394-3396)ccG>ccA		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							61	51	55					X																	54777770		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777770C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3396G>A	X.37:g.54777770C>T							p.P1132P	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			11	3426	-			1132					A6NN03	Silent	SNP	ENST00000218436.6	37	c.3396G>A	CCDS14361.1																																																																																				0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54777770	C	T	54777770	2	4	141	1	0	0	0	0	0	0	0	1	7908	639	23	2		2	ITIH5L	23	54777770	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	6015219	54777770	100492790	59	9645											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685588	125685588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggtcctggCgcagatccaggaaagagacg	9	8	15	9	2	1	2	0	0	1	2	3	5	3	4	2	4	1	3	2	4	1	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:125685588C>T	ENST00000371126.1	-	1	1246	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597																																						uc022cds.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1003-1005)cGc>cAc		Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.							50	47	48					X																	125685588		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125685588C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1004G>A	X.37:g.125685588C>T	ENSP00000360167:p.Arg335His					DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			0	1004	-			335					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1004G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000198889	ENST00000371126	T	0.67523	-0.27	3.64	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.32802	N	0.005622	T	0.79890	0.4524	M	0.82323	2.585	0.37719	D	0.924847	D	0.89917	1.0	D	0.85130	0.997	T	0.82222	-0.0564	10	0.72032	D	0.01	.	8.5546	0.33474	0.0:0.8793:0.0:0.1207	.	335	Q5VU92	DC121_HUMAN	H	335	ENSP00000360167:R335H	ENSP00000360167:R335H	R	-	2	0	DCAF12L1	125513269	1.000000	0.71417	0.014000	0.15608	0.382000	0.30200	4.631000	0.61304	0.925000	0.37094	0.429000	0.28392	CGC		0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125685588	C	T	125685588	3	4	141	1	0	0	0	0	1	0	0	0	4264	768	27	1	391	1	DCAF12L1	23	125685588	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	70907818	125685588	29584972	60	9646											
MAGEA10	4109	broad.mit.edu	37	chrX	151303380	151303380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctcaggggtgcagtagCcctctatgaagactatgctt	8	11	10	12	0	2	2	1	1	1	1	3	2	3	2	3	2	3	3	3	2	4	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:151303380C>T	ENST00000370323.4	-	4	1029	c.713G>A	c.(712-714)gGc>gAc	p.G238D	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.G238D	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTAGCCCTCTATGAA	0.527																																						uc022cgz.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(712-714)gGc>gAc		Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.							72	67	69					X																	151303380		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303380C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.713G>A	X.37:g.151303380C>T	ENSP00000359347:p.Gly238Asp					MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.G238D|MAGEA10_uc004ffm.2_Missense_Mutation_p.G238D|MAGEA10_uc004ffl.3_Missense_Mutation_p.G238D	p.G238D	NM_021048	NP_066386	P43363	MAGAA_HUMAN			0	713	-	Acute lymphoblastic leukemia(192;6.56e-05)		238			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.713G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473770	0.63737	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.06371	3.31;3.31	2.6	0.755	0.18415	.	0.124523	0.56097	D	0.000039	T	0.08714	0.0216	L	0.44542	1.39	0.09310	N	1	D	0.57571	0.98	P	0.53146	0.719	T	0.16305	-1.0407	10	0.52906	T	0.07	.	4.5113	0.11912	0.0:0.6469:0.0:0.3531	.	238	P43363	MAGAA_HUMAN	D	238	ENSP00000359347:G238D;ENSP00000244096:G238D	ENSP00000244096:G238D	G	-	2	0	MAGEA10	151054036	0.002000	0.14202	0.001000	0.08648	0.887000	0.51463	0.118000	0.15605	0.072000	0.16694	0.292000	0.19580	GGC		0.527	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		T	151303380	C	T	151303380	3	4	141	1	0	0	0	0	1	0	0	0	9164	739	26	3	400	3	MAGEA10	23	151303380	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	25617792	151303380	3967180	61	9647											
EXOSC10	5394	broad.mit.edu	37	chr1	11151619	11151619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggacaggctgttgattCttgtttacacctgaggcttc	7	13	13	8	0	1	2	0	2	1	0	2	4	1	4	1	4	1	4	1	4	1	6	rs146190133		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11151619C>G	ENST00000376936.4	-	4	457	c.408G>C	c.(406-408)aaG>aaC	p.K136N	EXOSC10_ENST00000544779.1_Missense_Mutation_p.K136N|EXOSC10_ENST00000304457.7_Missense_Mutation_p.K136N	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	136					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGTTGATTCTTGTTTACAC	0.458																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(406-408)aaG>aaC		Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.							80	80	80					1																	11151619		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151619C>G	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.408G>C	1.37:g.11151619C>G	ENSP00000366135:p.Lys136Asn					EXOSC10_uc001asb.3_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N	p.K136N	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	3	458	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	136					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.408G>C	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137852	0.56936	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	.	0.043207	0.85682	D	0.000000	T	0.69646	0.3134	M	0.64997	1.995	0.51012	D	0.9999	P;D	0.67145	0.866;0.996	P;P	0.61477	0.644;0.889	T	0.70494	-0.4856	9	0.59425	D	0.04	-37.0297	12.717	0.57121	0.0:0.9181:0.0:0.0819	.	136;136	Q01780-2;Q01780	.;EXOSX_HUMAN	N	136	.	ENSP00000307307:K136N	K	-	3	2	EXOSC10	11074206	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.454000	0.44979	2.868000	0.98415	0.555000	0.69702	AAG		0.458	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		G	11151619	C	G	11151619	3	3	142	1	0	0	0	0	1	0	0	0	5314	912	32	5	2337	5	EXOSC10	1	11151619	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		11151619	238099002	1	9648											
UBIAD1	29914	broad.mit.edu	37	chr1	11334002	11334002	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccggttcggagtcttcctCtacacgttgggctgcgtctg	3	13	13	12	4	3	0	0	0	3	0	6	1	5	1	2	3	2	3	2	3	1	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11334002C>G	ENST00000376810.5	+	1	740	c.414C>G	c.(412-414)ctC>ctG	p.L138L	UBIAD1_ENST00000376804.2_Silent_p.L138L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	138					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGTCTTCCTCTACACGTTGG	0.537																																						uc001asg.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(412-414)ctC>ctG		Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.							83	77	79					1																	11334002		2203	4300	6503	SO:0001819	synonymous_variant	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11334002C>G		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.414C>G	1.37:g.11334002C>G							p.L138L	NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	0	748	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	138					B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	37	c.414C>G	CCDS129.1																																																																																				0.537	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		G	11334002	C	G	11334002	2	3	142	1	0	0	0	0	0	0	0	1	16882	900	32	5		5	UBIAD1	1	11334002	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	182383	11334002	237916619	2	9649											
TRIM62	55223	broad.mit.edu	37	chr1	33646782	33646782	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgcggcgcggcgcgcgttGaggatggcgtccagcgggaa	5	4	20	12	10	0	1	0	1	0	0	1	3	1	3	1	5	1	1	1	5	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:33646782G>C	ENST00000291416.5	-	1	485	c.252C>G	c.(250-252)ctC>ctG	p.L84L	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	84					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCGCGCGTTGAGGATGGCGT	0.701																																						uc001bxb.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(250-252)ctC>ctG		Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.							22	17	19					1																	33646782		2188	4286	6474	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33646782G>C	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.252C>G	1.37:g.33646782G>C							p.L84L	NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN			0	890	-		Myeloproliferative disorder(586;0.0393)	84					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.252C>G	CCDS376.1																																																																																				0.701	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		C	33646782	G	C	33646782	2	2	142	1	0	0	0	0	0	0	0	1	16534	1277	45	5		5	TRIM62	1	33646782	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	22312780	33646782	215603839	3	9650											
TCHH	7062	broad.mit.edu	37	chr1	152080828	152080828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagctgttcgtcttcgCggaattttctgtcgcgctcc	4	13	12	12	5	2	0	0	0	2	0	6	2	3	2	1	2	2	4	1	2	1	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:152080828C>T	ENST00000368804.1	-	2	4864	c.4865G>A	c.(4864-4866)cGc>cAc	p.R1622H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1622	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4864-4866)cGc>cAc		Homo sapiens trichohyalin (TCHH), mRNA.							70	70	70					1																	152080828		1922	4138	6060	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080828C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4865G>A	1.37:g.152080828C>T	ENSP00000357794:p.Arg1622His					TCHH_uc001ezp.2_Missense_Mutation_p.R1622H	p.R1622H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5137	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1622			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4865G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384588	0.25031	.	.	ENSG00000159450	ENST00000368804	T	0.07908	3.15	4.27	0.261	0.15592	.	.	.	.	.	T	0.02193	0.0068	L	0.47716	1.5	0.09310	N	1	B	0.20164	0.042	B	0.14578	0.011	T	0.43861	-0.9365	9	0.41790	T	0.15	.	4.7595	0.13100	0.1499:0.5883:0.0:0.2617	.	1622	Q07283	TRHY_HUMAN	H	1622	ENSP00000357794:R1622H	ENSP00000357794:R1622H	R	-	2	0	TCHH	150347452	0.000000	0.05858	0.005000	0.12908	0.189000	0.23516	-0.417000	0.07088	-0.109000	0.12044	-0.363000	0.07495	CGC		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152080828	C	T	152080828	3	4	142	1	0	0	0	0	1	0	0	0	15697	768	27	1	970	1	TCHH	1	152080828	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	118434046	152080828	97169793	4	9651											
OR10J3	441911	broad.mit.edu	37	chr1	159283794	159283794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggagatgatgaggacaTaggagataaagaccaggccc	14	6	15	6	0	0	5	0	2	0	3	0	8	0	6	2	5	0	0	2	5	3	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:159283794T>A	ENST00000332217.5	-	1	655	c.656A>T	c.(655-657)tAt>tTt	p.Y219F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATGAGGACATAGGAGATAAA	0.502																																						uc010piu.2																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(655-657)tAt>tTt		Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.							166	148	154					1																	159283794		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283794T>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.656A>T	1.37:g.159283794T>A	ENSP00000331789:p.Tyr219Phe						p.Y219F	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			0	656	-	all_hematologic(112;0.0429)		219						Missense_Mutation	SNP	ENST00000332217.5	37	c.656A>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503900	0.64410	.	.	ENSG00000196266	ENST00000332217	T	0.00495	6.99	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30302	U	0.009939	T	0.01765	0.0056	H	0.97540	4.025	0.26391	N	0.976577	D	0.89917	1.0	D	0.97110	1.0	T	0.31806	-0.9930	10	0.87932	D	0	.	13.3056	0.60351	0.0:0.0:0.0:1.0	.	219	Q5JRS4	O10J3_HUMAN	F	219	ENSP00000331789:Y219F	ENSP00000331789:Y219F	Y	-	2	0	OR10J3	157550418	0.999000	0.42202	0.998000	0.56505	0.885000	0.51271	3.259000	0.51515	2.232000	0.73038	0.533000	0.62120	TAT		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			A	159283794	T	A	159283794	3	1	142	1	0	0	0	0	1	0	0	0	10911	1406	49	5	335	5	OR10J3	1	159283794	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08	7202966	159283794	89966827	5	9652											
SLAMF6	114836	broad.mit.edu	37	chr1	160456502	160456502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctttcagcaacttacaCgacattgtcaagggcagttg	11	10	10	10	1	2	0	2	0	0	0	2	1	2	0	1	2	3	3	1	2	3	4	rs151001421		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:160456502C>T	ENST00000368057.3	-	8	1054	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	SLAMF6_ENST00000368055.1_Missense_Mutation_p.V221M|SLAMF6_ENST00000368059.3_Missense_Mutation_p.V331M			Q96DU3	SLAF6_HUMAN	SLAM family member 6	332						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCAACTTACACGACATTGTCA	0.483																																						uc001fwe.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(994-996)Gtg>Atg		Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86	78	81		994,844,661,991	-2.7	0	1	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	SLAMF6	NM_001184714.1,NM_001184715.1,NM_001184716.1,NM_052931.4	21,21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	332/333,282/283,221/222,331/332	160456502	1,13005	2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160456502C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.994G>A	1.37:g.160456502C>T	ENSP00000357036:p.Val332Met					SLAMF6_uc010pji.2_Missense_Mutation_p.V221M|SLAMF6_uc001fwd.2_Missense_Mutation_p.V331M|SLAMF6_uc010pjh.2_Missense_Mutation_p.V282M	p.V332M	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		7	1064	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		332					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.994G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143560	0.09134	2.27E-4	0.0	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.22336	2.65;2.65;1.96	4.18	-2.66	0.06077	.	3.839660	0.00859	N	0.001901	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.24675	0.066;0.109;0.066;0.066	B;B;B;B	0.16722	0.007;0.016;0.007;0.007	T	0.34950	-0.9808	10	0.52906	T	0.07	.	5.0375	0.14441	0.0:0.3958:0.1732:0.431	.	221;282;332;331	Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	M	331;332;221	ENSP00000357038:V331M;ENSP00000357036:V332M;ENSP00000357034:V221M	ENSP00000357034:V221M	V	-	1	0	SLAMF6	158723126	0.003000	0.15002	0.001000	0.08648	0.066000	0.16364	-0.142000	0.10311	-0.428000	0.07339	-1.105000	0.02106	GTG		0.483	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		T	160456502	C	T	160456502	3	4	142	1	0	0	0	0	1	0	0	0	14368	536	19	1	8	1	SLAMF6	1	160456502	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	1172708	160456502	88794119	6	9653											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312607	205312607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtccatggggacgccGttgtcgtcacatcccccgat	8	8	11	14	4	1	0	1	0	0	0	4	2	3	1	4	2	1	2	4	2	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:205312607G>A	ENST00000367156.3	-	5	942	c.126C>T	c.(124-126)aaC>aaT	p.N42N	KLHDC8A_ENST00000367155.3_Silent_p.N42N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000539253.1_Silent_p.N42N|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	42										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGGGACGCCGTTGTCGTCAC	0.716																																						uc001hcf.1																			0		p.D41H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(124-126)aaC>aaT		Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.							34	36	35					1																	205312607		2202	4299	6501	SO:0001819	synonymous_variant	55220							g.chr1:205312607G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.126C>T	1.37:g.205312607G>A						KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N	p.N42N	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	694	-	Breast(84;0.23)		42					B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	c.126C>T	CCDS30985.1																																																																																				0.716	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		A	205312607	G	A	205312607	2	1	142	1	0	0	0	0	0	0	0	1	8362	1136	40	1		1	KLHDC8A	1	205312607	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	44856105	205312607	43938014	7	9654											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220340949	220340949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcatctctttcttcattagCcagttttaatacttcagggc	8	17	6	10	0	4	0	2	0	2	0	5	0	4	0	1	1	3	2	1	1	3	7			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:220340949C>A	ENST00000358951.2	-	25	2991	c.2875G>T	c.(2875-2877)Gct>Tct	p.A959S		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	959					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTTCATTAGCCAGTTTTAAT	0.398																																						uc010puk.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2875-2877)Gct>Tct		Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.							191	198	195					1																	220340949		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220340949C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2875G>T	1.37:g.220340949C>A	ENSP00000351832:p.Ala959Ser					RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A959S|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A539S	p.A959S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	24	3039	-			959					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2875G>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322811	0.41096	.	.	ENSG00000118873	ENST00000358951	T	0.30981	1.51	5.92	5.92	0.95590	.	0.468148	0.26773	N	0.022573	T	0.19087	0.0458	N	0.08118	0	0.38965	D	0.958629	B	0.22541	0.071	B	0.21151	0.033	T	0.13953	-1.0490	10	0.12430	T	0.62	.	20.3065	0.98633	0.0:1.0:0.0:0.0	.	959	Q9H2M9	RBGPR_HUMAN	S	959	ENSP00000351832:A959S	ENSP00000351832:A959S	A	-	1	0	RAB3GAP2	218407572	1.000000	0.71417	0.961000	0.40146	0.944000	0.59088	4.157000	0.58144	2.809000	0.96659	0.650000	0.86243	GCT		0.398	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		A	220340949	C	A	220340949	3	1	142	1	0	0	0	0	1	0	0	0	12936	739	26	5	1350	5	RAB3GAP2	1	220340949	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	15028342	220340949	28909672	8	9655											
HHIPL2	79802	broad.mit.edu	37	chr1	222717502	222717502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggtgttttcggcgtcGtagaggtgggctgcgtaggg	3	12	20	6	4	1	1	0	0	1	1	3	1	1	1	0	5	1	4	0	5	2	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:222717502G>A	ENST00000343410.6	-	2	409	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	117					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTTCGGCGTCGTAGAGGTGGG	0.567																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(349-351)taC>taT		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							78	89	85					1																	222717502		1958	4145	6103	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717502G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.351C>T	1.37:g.222717502G>A							p.Y117Y	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	409	-			117					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.351C>T	CCDS1530.2																																																																																				0.567	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222717502	G	A	222717502	2	1	142	1	0	0	0	0	0	0	0	1	7094	1140	40	1		1	HHIPL2	1	222717502	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	2376553	222717502	26533119	9	9656											
NUP133	55746	broad.mit.edu	37	chr1	229606471	229606471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcggctgacagcttttcGgcatgctcacagagcaacag	10	8	12	11	2	1	2	1	1	0	1	2	2	1	2	0	3	4	5	0	3	1	2	rs374819603		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:229606471G>A	ENST00000261396.3	-	15	2023	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A	NUP133_ENST00000537506.1_Silent_p.A628A	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	644					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAGCTTTTCGGCATGCTCAC	0.493																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1930-1932)gcC>gcT		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							104	94	98					1																	229606471		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606471G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1932C>T	1.37:g.229606471G>A							p.A644A	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			14	2024	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	644					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.1932C>T	CCDS1579.1																																																																																				0.493	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		A	229606471	G	A	229606471	2	1	142	1	0	0	0	0	0	0	0	1	10754	1103	39	2		2	NUP133	1	229606471	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	6888969	229606471	19644150	10	9657											
SPEG	10290	broad.mit.edu	37	chr2	220353375	220353375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccagctcctgtaccGtggctgtggcccgtgagcct	5	9	12	15	2	1	1	1	1	0	0	2	1	2	1	5	2	3	4	5	2	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:220353375G>A	ENST00000312358.7	+	33	8146	c.8014G>A	c.(8014-8016)Gtg>Atg	p.V2672M	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2672	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTGTACCGTGGCTGTGGC	0.672																																						uc010fwg.3																			0		p.T2671T(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(8014-8016)Gtg>Atg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							28	32	31					2																	220353375		1958	4143	6101	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220353375G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8014G>A	2.37:g.220353375G>A	ENSP00000311684:p.Val2672Met						p.V2672M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	32	8014	+		Renal(207;0.0183)	2672			Ig-like 9.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8014G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181156	0.21787	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.76316	-1.01	4.37	1.33	0.21861	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.226336	0.22620	N	0.057704	T	0.70649	0.3248	M	0.67569	2.06	0.80722	D	1	P	0.48016	0.904	B	0.40565	0.333	T	0.68697	-0.5340	10	0.66056	D	0.02	.	6.4568	0.21934	0.2748:0.1807:0.5446:0.0	.	2672	Q15772	SPEG_HUMAN	M	2672	ENSP00000311684:V2672M	ENSP00000265327:V2672M	V	+	1	0	SPEG	220061619	0.006000	0.16342	0.998000	0.56505	0.998000	0.95712	0.123000	0.15708	0.459000	0.27016	0.563000	0.77884	GTG		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220353375	G	A	220353375	3	1	142	1	0	0	0	0	1	0	0	0	15035	1145	40	1	8156	1	SPEG	2	220353375	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		220353375	22845998	11	9658											
C2orf85	285093	broad.mit.edu	37	chr2	242814085	242814085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatcctgcaggactgctaCggggatggccccggcccagc	7	5	13	16	2	0	0	0	0	0	0	1	2	1	2	4	5	4	2	4	5	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:242814085C>T	ENST00000343216.3	+	2	406	c.378C>T	c.(376-378)taC>taT	p.Y126Y		NM_173821.2	NP_776182.2																					AGGACTGCTACGGGGATGGCC	0.711																																						uc010fzu.1																			0											c.(376-378)taC>taT		Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.							8	10	9					2																	242814085		1905	4076	5981	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242814085C>T																												ENST00000343216.3:c.378C>T	2.37:g.242814085C>T							p.Y126Y	NM_173821	NP_776182	Q14D33	CB085_HUMAN			1	401	+			126						Silent	SNP	ENST00000343216.3	37	c.378C>T	CCDS42843.1																																																																																				0.711	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			T	242814085	C	T	242814085	2	4	142	1	0	0	0	0	0	0	0	1	2200	547	19	1		1	C2orf85	2	242814085	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	22460710	242814085	385288	12	9659											
DPPA4	55211	broad.mit.edu	37	chr3	109046838	109046838	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctttttcctgatattctaTtcccattggaggctttttat	6	20	6	9	0	1	1	0	1	1	0	3	2	3	2	3	2	0	1	3	2	3	10			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:109046838T>G	ENST00000335658.6	-	7	966	c.912A>C	c.(910-912)gaA>gaC	p.E304D	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	304					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATATTCTATTCCCATTGGA	0.368																																						uc003dxq.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(910-912)gaA>gaC		Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.							206	218	214					3																	109046838		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109046838T>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.912A>C	3.37:g.109046838T>G	ENSP00000335306:p.Glu304Asp					DPPA4_uc011bho.2_3'UTR	p.E304D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			6	967	-			304					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.912A>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	7.227	0.598528	0.13939	.	.	ENSG00000121570	ENST00000335658	T	0.25085	1.82	3.38	-5.75	0.02384	.	2.157960	0.03146	N	0.167321	T	0.12603	0.0306	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13150	-1.0520	10	0.22706	T	0.39	.	0.667	0.00852	0.2764:0.1357:0.3164:0.2716	.	304	Q7L190	DPPA4_HUMAN	D	304	ENSP00000335306:E304D	ENSP00000335306:E304D	E	-	3	2	DPPA4	110529528	0.004000	0.15560	0.000000	0.03702	0.747000	0.42532	-0.634000	0.05477	-1.308000	0.02318	0.383000	0.25322	GAA		0.368	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		G	109046838	T	G	109046838	3	3	142	1	0	0	0	0	1	0	0	0	4736	1490	52	5	6	5	DPPA4	3	109046838	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08		109046838	88975592	13	9660											
HCLS1	3059	broad.mit.edu	37	chr3	121356079	121356079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccttctccaccccgtacCggccaccaaagccacgagag	10	6	7	18	3	1	1	0	0	1	1	3	2	2	1	8	1	2	1	8	1	3	3	rs142478875		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:121356079C>T	ENST00000314583.3	-	7	570	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	HCLS1_ENST00000428394.2_Intron|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	160					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CACCCCGTACCGGCCACCAAA	0.557													C|||	1	0.000199681	0	0	5008	,	,		19617	0		0.001	False		,,,				2504	0					uc003eeh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(478-480)cGg>cAg		Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	134	118	124		479	5.2	1	3	dbSNP_134	124	0,8600		0,0,4300	yes	missense	HCLS1	NM_005335.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	160/487	121356079	1,13005	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121356079C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.479G>A	3.37:g.121356079C>T	ENSP00000320176:p.Arg160Gln					HCLS1_uc011bjj.2_Intron|HCLS1_uc011bjk.1_Non-coding_Transcript	p.R160Q	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	6	604	-			160					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.479G>A	CCDS3003.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.39	3.612911	0.66672	2.27E-4	0.0	ENSG00000180353	ENST00000314583	T	0.21361	2.01	5.15	5.15	0.70609	.	0.231840	0.41294	D	0.000902	T	0.30978	0.0782	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.02190	-1.1198	10	0.54805	T	0.06	-3.0444	9.7121	0.40251	0.0:0.9051:0.0:0.0949	.	160	P14317	HCLS1_HUMAN	Q	160	ENSP00000320176:R160Q	ENSP00000320176:R160Q	R	-	2	0	HCLS1	122838769	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	3.700000	0.54786	2.398000	0.81561	0.655000	0.94253	CGG		0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		T	121356079	C	T	121356079	3	4	142	1	0	0	0	0	1	0	0	0	6995	652	23	2	1013	2	HCLS1	3	121356079	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	12309241	121356079	76666351	14	9661											
SR140	23350	broad.mit.edu	37	chr3	142741859	142741859	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagcggttaaaaaaccctAatgctcctatgttaccgcca	13	9	8	11	2	0	1	0	0	0	1	1	2	1	1	4	1	4	3	4	1	6	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:142741859A>G	ENST00000473835.2	+	12	1273	c.1183A>G	c.(1183-1185)Aat>Gat	p.N395D	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.N394D	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	395	Pro-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAAAAACCCTAATGCTCCTAT	0.418																																						uc003evh.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1183-1185)Aat>Gat		Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.							41	38	39					3																	142741859		1868	4098	5966	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741859A>G	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1183A>G	3.37:g.142741859A>G	ENSP00000418563:p.Asn395Asp					U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.N395D|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.N394D|U2SURP_uc003evl.1_5'Flank	p.N395D	NM_001080415	NP_001073884	O15042	SR140_HUMAN			11	1282	+			395			Pro-rich.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1183A>G	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914269	0.33815	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.10192	2.9;2.9	5.93	5.93	0.95920	.	0.040254	0.85682	D	0.000000	T	0.12732	0.0309	L	0.38175	1.15	0.80722	D	1	P;P;P	0.37441	0.531;0.595;0.459	B;B;B	0.41646	0.093;0.362;0.199	T	0.17899	-1.0354	10	0.18710	T	0.47	-18.8655	16.3766	0.83401	1.0:0.0:0.0:0.0	.	395;394;395	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	D	395;395;394	ENSP00000418563:N395D;ENSP00000422011:N394D	ENSP00000322376:N395D	N	+	1	0	U2SURP	144224549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.730000	0.91510	2.263000	0.75096	0.533000	0.62120	AAT		0.418	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		G	142741859	A	G	142741859	3	3	142	1	0	0	0	0	1	0	0	0	15130	362	13	4	1229	4	SR140	3	142741859	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	21385780	142741859	55280571	15	9662											
SLIT2	9353	broad.mit.edu	37	chr4	20544133	20544133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggaaatgatgacaatagTtgctccccactttctcgctg	10	13	8	10	1	1	2	0	2	1	0	3	3	2	3	2	1	1	3	2	1	4	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:20544133T>C	ENST00000504154.1	+	21	2412	c.2160T>C	c.(2158-2160)agT>agC	p.S720S	SLIT2_ENST00000273739.5_Silent_p.S724S|SLIT2_ENST00000503823.1_Silent_p.S712S|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.S716S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	720	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGACAATAGTTGCTCCCCAC	0.413																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2158-2160)agT>agC		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							313	287	296					4																	20544133		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20544133T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2160T>C	4.37:g.20544133T>C						SLIT2_uc003gps.1_Silent_p.S712S	p.S720S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			20	2364	+			720			LRRNT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2160T>C	CCDS3426.1																																																																																				0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20544133	T	C	20544133	2	2	142	1	0	0	0	0	0	0	0	1	14740	1722	60	4		4	SLIT2	4	20544133	Silent	SNP	T	TCGA-14-1829-01A-01W-0643-08		20544133	170610143	16	9663											
PKD2	5311	broad.mit.edu	37	chr4	88973158	88973158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagctgtcagtggtagctAtaggaattaacatatacaga	14	12	9	6	0	2	1	2	0	0	1	2	2	2	2	0	2	4	3	0	2	7	7	rs374402854		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:88973158A>G	ENST00000237596.2	+	7	1630	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTGGTAGCTATAGGAATTAA	0.323																																						uc003hre.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1564-1566)Ata>Gta		Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.							58	59	59					4																	88973158		2202	4300	6502	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88973158A>G	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1564A>G	4.37:g.88973158A>G	ENSP00000237596:p.Ile522Val					PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	p.I522V	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1651	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	522					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1564A>G	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	1.568	-0.534844	0.04082	.	.	ENSG00000118762	ENST00000237596	T	0.69806	-0.43	5.33	2.88	0.33553	Polycystin cation channel, PKD1/PKD2 (1);	0.085474	0.85682	D	0.000000	T	0.45357	0.1338	N	0.16307	0.4	0.80722	D	1	B	0.06786	0.001	B	0.17098	0.017	T	0.15378	-1.0439	10	0.12103	T	0.63	-4.9045	9.9255	0.41489	0.8614:0.0:0.1386:0.0	.	522	Q13563	PKD2_HUMAN	V	522	ENSP00000237596:I522V	ENSP00000237596:I522V	I	+	1	0	PKD2	89192182	1.000000	0.71417	0.837000	0.33122	0.174000	0.22865	4.124000	0.57924	0.420000	0.25954	0.533000	0.62120	ATA		0.323	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		G	88973158	A	G	88973158	3	3	142	1	0	0	0	0	1	0	0	0	11966	449	16	4	1590	4	PKD2	4	88973158	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	68429025	88973158	102181118	17	9664											
GPR98	84059	broad.mit.edu	37	chr5	90055389	90055389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctccatttggagtatttgGatttgaagaaaagactgtaa	13	15	9	4	0	1	3	0	1	1	2	2	5	1	5	1	2	0	2	1	2	5	6			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:90055389G>T	ENST00000405460.2	+	58	12200	c.12104G>T	c.(12103-12105)gGa>gTa	p.G4035V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4035	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGGATTTGAAGAA	0.368																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(12103-12105)gGa>gTa		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							123	115	117					5																	90055389		1952	4157	6109	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90055389G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12104G>T	5.37:g.90055389G>T	ENSP00000384582:p.Gly4035Val					GPR98_uc003kjt.3_Missense_Mutation_p.G1741V|GPR98_uc003kjv.3_Missense_Mutation_p.G1635V	p.G4035V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	57	12200	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4035					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12104G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.48|19.48	3.835470|3.835470	0.71373|0.71373	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.35048	.|1.33	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61689|0.61689	0.2367|0.2367	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.996;0.997	T|T	0.65212|0.65212	-0.6223|-0.6223	5|10	.|0.72032	.|D	.|0.01	.|.	18.7882|18.7882	0.91963|0.91963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4035;4035	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	Y|V	1601|4035	.|ENSP00000384582:G4035V	.|ENSP00000296619:G4035V	D|G	+|+	1|2	0|0	GPR98|GPR98	90091145|90091145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.901000|6.901000	0.75693|0.75693	2.521000|2.521000	0.84997|0.84997	0.563000|0.563000	0.77884|0.77884	GAT|GGA		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90055389	G	T	90055389	3	4	142	1	0	0	0	0	1	0	0	0	6721	1174	41	5	12334	5	GPR98	5	90055389	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		90055389	90859871	18	9665											
ETF1	2107	broad.mit.edu	37	chr5	137846888	137846888	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttcatcaaagtatcgTcctacgattagggatcagtc	11	13	8	9	2	3	1	3	1	0	0	6	3	4	2	1	1	1	1	1	1	4	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:137846888T>C	ENST00000360541.5	-	8	1085	c.864A>G	c.(862-864)ggA>ggG	p.G288G	ETF1_ENST00000503014.1_Splice_Site_p.G274G|ETF1_ENST00000499810.2_Splice_Site_p.G255G	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	288					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAAGTATCGTCCTACGATTA	0.368																																						uc003ldc.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.e8-1		Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.							76	75	75					5																	137846888		2203	4300	6503	SO:0001630	splice_region_variant	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137846888T>C	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.863-1A>G	5.37:g.137846888T>C						ETF1_uc011cyv.2_Splice_Site_p.G274_splice|ETF1_uc010jex.3_Splice_Site|ETF1_uc003ldd.4_Splice_Site_p.G255_splice	p.G288_splice	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1028	-			288					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	c.863_splice	CCDS4207.1																																																																																				0.368	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	Silent	C	137846888	T	C	137846888	5	2	142	1	0	0	0	0	0	0	1	0	5268	1681	58	4	465	4	ETF1	5	137846888	Splice_Site	SNP	T	TCGA-14-1829-01A-01W-0643-08	47791499	137846888	43068372	19	9666											
PCDHB6	56130	broad.mit.edu	37	chr5	140530986	140530986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaacaggttatttgttcaaTagagaacaatctcccctttc	12	13	5	11	0	2	1	1	0	1	1	4	2	2	1	3	1	2	2	3	1	6	5	rs142117819	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140530986T>C	ENST00000231136.1	+	1	1148	c.1148T>C	c.(1147-1149)aTa>aCa	p.I383T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.I247T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGTTCAATAGAGAACAAT	0.463													T|||	2	0.000399361	0	0	5008	,	,		19782	0		0.002	False		,,,				2504	0					uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1147-1149)aTa>aCa		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	129	127	128		1148	3.4	0.7	5	dbSNP_134	128	0,8600		0,0,4300	yes	missense	PCDHB6	NM_018939.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	383/795	140530986	1,13005	2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530986T>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1148T>C	5.37:g.140530986T>C	ENSP00000231136:p.Ile383Thr						p.I383T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1148	+			383			Cadherin 4.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1148T>C	CCDS4248.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	13.03	2.114637	0.37339	2.27E-4	0.0	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.59502	0.26;0.26	4.59	3.43	0.39272	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72479	0.3465	H	0.94964	3.605	0.09310	N	1	P	0.38535	0.635	P	0.44811	0.461	T	0.66968	-0.5789	9	0.87932	D	0	.	9.8815	0.41236	0.0:0.0814:0.0:0.9186	.	383	Q9Y5E3	PCDB6_HUMAN	T	247;383;168	ENSP00000438466:I247T;ENSP00000231136:I383T	ENSP00000231136:I383T	I	+	2	0	PCDHB6	140511170	0.681000	0.27614	0.721000	0.30653	0.584000	0.36387	4.622000	0.61240	0.723000	0.32274	0.459000	0.35465	ATA		0.463	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		C	140530986	T	C	140530986	3	2	142	1	0	0	0	0	1	0	0	0	11546	1406	49	4	1150	4	PCDHB6	5	140530986	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08	2684098	140530986	40384274	20	9667											
PCDHB7	56129	broad.mit.edu	37	chr5	140554290	140554290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcacaatggcgaggtgcGtaccgccaggctgctgagcg	7	5	17	12	5	0	1	0	1	0	0	0	2	0	1	2	4	4	4	2	4	2	1	rs544763939		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140554290G>A	ENST00000231137.3	+	1	2048	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGTACCGCCAGG	0.697													G|||	1	0.000199681	0	0.0014	5008	,	,		20098	0		0	False		,,,				2504	0					uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1873-1875)cGt>cAt		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							41	64	56					5																	140554290		2192	4286	6478	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554290G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1874G>A	5.37:g.140554290G>A	ENSP00000231137:p.Arg625His						p.R625H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2048	+			625			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1874G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297906	0.60086	.	.	ENSG00000113212	ENST00000231137	T	0.52754	0.65	3.98	3.08	0.35506	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71264	0.3319	M	0.90759	3.145	0.31134	N	0.707366	D	0.89917	1.0	D	0.91635	0.999	T	0.72472	-0.4283	9	0.66056	D	0.02	.	10.1242	0.42639	0.1713:0.0:0.8287:0.0	.	625	Q9Y5E2	PCDB7_HUMAN	H	625	ENSP00000231137:R625H	ENSP00000231137:R625H	R	+	2	0	PCDHB7	140534474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.031000	0.49728	1.922000	0.55676	0.449000	0.29647	CGT		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140554290	G	A	140554290	3	1	142	1	0	0	0	0	1	0	0	0	11547	1145	40	1	1876	1	PCDHB7	5	140554290	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	23304	140554290	40360970	21	9668											
TREML1	340205	broad.mit.edu	37	chr6	41121804	41121804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgcctgcagcacctcaGggaggctgccaactatgccc	7	6	13	15	1	1	0	1	0	0	0	1	1	1	1	4	3	6	3	4	3	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:41121804G>A	ENST00000426005.2	-	2	111	c.68C>T	c.(67-69)cCt>cTt	p.P23L	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Missense_Mutation_p.P23L	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	23	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCACCTCAGGGAGGCTGCC	0.607																																						uc011duc.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13						c.(67-69)cCt>cTt		Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.							29	31	31					6																	41121804		2203	4300	6503	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121804G>A	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.68C>T	6.37:g.41121804G>A	ENSP00000402855:p.Pro23Leu					TREML1_uc003opx.3_Missense_Mutation_p.P23L|TREML1_uc011dud.2_Intron	p.P23L	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			1	112	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		23			Ig-like V-type.		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.68C>T	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647305	0.29246	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.69685	-0.42;-0.42	5.97	3.12	0.35913	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.219331	0.32836	N	0.005588	T	0.66277	0.2773	M	0.69823	2.125	0.33461	D	0.585004	P;D	0.89917	0.711;1.0	B;D	0.80764	0.184;0.994	T	0.65417	-0.6173	10	0.35671	T	0.21	.	5.1143	0.14825	0.1696:0.0:0.664:0.1664	.	23;23	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	L	23	ENSP00000362219:P23L;ENSP00000402855:P23L	ENSP00000362219:P23L	P	-	2	0	TREML1	41229782	0.601000	0.26907	0.423000	0.26634	0.009000	0.06853	1.587000	0.36622	1.542000	0.49330	-0.140000	0.14226	CCT		0.607	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		A	41121804	G	A	41121804	3	1	142	1	0	0	0	0	1	0	0	0	16469	1000	35	3	885	3	TREML1	6	41121804	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		41121804	129993263	22	9669											
GFRAL	389400	broad.mit.edu	37	chr6	55196594	55196594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcaatgcttacgtgatgCaaatggatgtaaacatgctt	14	11	10	6	1	0	2	0	1	0	1	0	3	0	3	0	1	6	5	0	1	5	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:55196594C>T	ENST00000340465.2	+	2	190	c.104C>T	c.(103-105)gCa>gTa	p.A35V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	35					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTACGTGATGCAAATGGATGT	0.338																																						uc003pcm.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(103-105)gCa>gTa		Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.							109	99	103					6																	55196594		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55196594C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.104C>T	6.37:g.55196594C>T	ENSP00000343636:p.Ala35Val						p.A35V	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	190	+	Lung NSC(77;0.0875)|Renal(3;0.122)		35					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.104C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	2.957	-0.215386	0.06101	.	.	ENSG00000187871	ENST00000340465	T	0.30714	1.52	4.92	-1.97	0.07503	GDNF/GAS1 (1);	1.602880	0.03279	N	0.185936	T	0.08088	0.0202	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17501	-1.0367	10	0.26408	T	0.33	-1.3993	0.8451	0.01159	0.152:0.251:0.2986:0.2985	.	35	Q6UXV0	GFRAL_HUMAN	V	35	ENSP00000343636:A35V	ENSP00000343636:A35V	A	+	2	0	GFRAL	55304553	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.031000	0.13710	-0.508000	0.06540	-0.518000	0.04402	GCA		0.338	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		T	55196594	C	T	55196594	3	4	142	1	0	0	0	0	1	0	0	0	6351	710	25	3	110	3	GFRAL	6	55196594	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	14074790	55196594	115918473	23	9670											
BCLAF1	9774	broad.mit.edu	37	chr6	136599627	136599627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctagaagatctatatgacCggcgagatctgcttctggat	11	11	10	9	2	3	4	0	1	3	3	3	6	3	5	2	2	1	1	2	2	4	4	rs149799182		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:136599627C>T	ENST00000531224.1	-	4	644	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)	p.R131P(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(391-393)cGg>cAg		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	189	202	198		386,392,392	5.6	1	6	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	129/870,131/748,131/921	136599627	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599627C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.392G>A	6.37:g.136599627C>T	ENSP00000435210:p.Arg131Gln					BCLAF1_uc003qgy.1_Missense_Mutation_p.R129Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R129Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R131Q	p.R131Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	645	-	Colorectal(23;0.24)		131					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.392G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938736	0.52972	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.64	5.64	0.86602	.	0.213045	0.33346	N	0.005007	T	0.07007	0.0178	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.60575	0.976;0.988;0.976;0.976	B;P;B;B	0.48270	0.417;0.572;0.417;0.341	T	0.31724	-0.9933	10	0.30854	T	0.27	-4.8627	12.9743	0.58529	0.0:0.9259:0.0:0.074	.	129;129;131;131	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Q	131;129;131;131;129;129;131	ENSP00000435210:R131Q;ENSP00000229446:R129Q;ENSP00000435441:R131Q;ENSP00000436501:R131Q;ENSP00000434826:R129Q;ENSP00000376159:R129Q;ENSP00000431734:R131Q	ENSP00000229446:R129Q	R	-	2	0	BCLAF1	136641320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.673000	0.54591	2.660000	0.90430	0.557000	0.71058	CGG		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136599627	C	T	136599627	3	4	142	1	0	0	0	0	1	0	0	0	1383	652	23	2	2410	2	BCLAF1	6	136599627	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	81403033	136599627	34515440	24	9671											
USP42	84132	broad.mit.edu	37	chr7	6183728	6183728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaggtgtaaaaagatGgttccagcttcaaagaggtt	13	12	11	5	0	2	2	2	0	0	2	3	2	3	2	1	3	1	5	1	3	5	5			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:6183728G>A	ENST00000306177.5	+	9	1049	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	297	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTAAAAAGATGGTTCCAGCTT	0.333																																						uc011jwo.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(889-891)atG>atA		Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.							131	119	123					7																	6183728		1831	4096	5927	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6183728G>A	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.891G>A	7.37:g.6183728G>A	ENSP00000301962:p.Met297Ile					USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.2_Missense_Mutation_p.M297I|USP42_uc011jwq.2_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I	p.M297I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	8	1014	+		Ovarian(82;0.0423)	297					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.891G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733282	0.89482	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.02682	4.2;4.2;4.2	5.28	5.28	0.74379	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.49640	1.575	0.50632	D	0.999885	D;D;D;D	0.67145	0.971;0.995;0.996;0.996	P;D;D;D	0.67548	0.853;0.92;0.952;0.952	T	0.01146	-1.1437	10	0.52906	T	0.07	.	18.5164	0.90937	0.0:0.0:1.0:0.0	.	260;297;297;297	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	I	297;230;143	ENSP00000301962:M297I;ENSP00000430568:M230I;ENSP00000408217:M143I	ENSP00000301962:M297I	M	+	3	0	USP42	6150254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.350000	0.66016	2.457000	0.83068	0.563000	0.77884	ATG		0.333	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		A	6183728	G	A	6183728	3	1	142	1	0	0	0	0	1	0	0	0	17070	1348	47	3	921	3	USP42	7	6183728	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		6183728	152954935	25	9672											
URGCP	55665	broad.mit.edu	37	chr7	43917037	43917037	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccttcaggagccctgtGacccagcggacgggcatgct	7	7	13	14	2	1	1	1	1	0	0	2	3	2	3	3	3	4	3	3	3	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917037G>C	ENST00000453200.1	-	6	2518	c.2025C>G	c.(2023-2025)gtC>gtG	p.V675V	URGCP_ENST00000336086.6_Silent_p.V632V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.V632V|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Silent_p.V632V|URGCP_ENST00000443736.1_Silent_p.V632V|URGCP_ENST00000402306.3_Silent_p.V666V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	675					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGCCCTGTGACCCAGCGGA	0.642																																						uc003tiw.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2023-2025)gtC>gtG		Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							30	33	32					7																	43917037		2121	4230	6351	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917037G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2025C>G	7.37:g.43917037G>C						URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.V632V|URGCP_uc003tiv.3_Silent_p.V600V|URGCP_uc003tix.3_Silent_p.V666V|URGCP_uc003tiy.3_Silent_p.V632V|URGCP_uc003tiz.3_Silent_p.V632V|URGCP_uc011kbj.2_Silent_p.V632V	p.V675V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			5	2082	-			675					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2025C>G	CCDS47578.1																																																																																				0.642	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43917037	G	C	43917037	2	2	142	1	0	0	0	0	0	0	0	1	17023	1277	45	5		5	URGCP	7	43917037	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	37733309	43917037	115221626	26	9673			1	31		4	4	1732	G		7.604947e-09
URGCP	55665	broad.mit.edu	37	chr7	43917123	43917123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctccgaggccaagcctgGgaagtgggcaaaacgcctct	10	5	13	13	2	1	0	0	0	1	0	2	2	2	1	4	3	3	2	4	3	4	0			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917123G>T	ENST00000453200.1	-	6	2432	c.1939C>A	c.(1939-1941)Cca>Aca	p.P647T	URGCP_ENST00000336086.6_Missense_Mutation_p.P604T|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.P604T|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.P604T|URGCP_ENST00000443736.1_Missense_Mutation_p.P604T|URGCP_ENST00000402306.3_Missense_Mutation_p.P638T			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	647					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAAGCCTGGGAAGTGGGCA	0.622																																						uc003tiw.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1939-1941)Cca>Aca		Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							27	32	30					7																	43917123		2088	4219	6307	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917123G>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1939C>A	7.37:g.43917123G>T	ENSP00000396918:p.Pro647Thr					URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P604T|URGCP_uc003tiv.3_Missense_Mutation_p.P572T|URGCP_uc003tix.3_Missense_Mutation_p.P638T|URGCP_uc003tiy.3_Missense_Mutation_p.P604T|URGCP_uc003tiz.3_Missense_Mutation_p.P604T|URGCP_uc011kbj.2_Missense_Mutation_p.P604T	p.P647T	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			5	1996	-			647					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1939C>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606300	0.66445	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.23950	1.92;1.92;1.88;1.92;1.88;1.92	5.79	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	M	0.83774	2.66	0.36269	D	0.855064	D;D	0.69078	0.997;0.997	D;D	0.68192	0.956;0.956	T	0.66268	-0.5966	10	0.87932	D	0	-18.6216	16.063	0.80852	0.0:0.1462:0.8538:0.0	.	638;647	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	T	604;604;638;604;647;604	ENSP00000223341:P604T;ENSP00000336872:P604T;ENSP00000384955:P638T;ENSP00000392136:P604T;ENSP00000396918:P647T;ENSP00000402803:P604T	ENSP00000223341:P604T	P	-	1	0	URGCP	43883648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.003000	0.70701	2.735000	0.93741	0.655000	0.94253	CCA		0.622	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43917123	G	T	43917123	3	4	142	1	0	0	0	0	1	0	0	0	17023	1232	43	5	860	5	URGCP	7	43917123	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	86	43917123	115221540	27	9674			1	31		4	4	1732	G		7.604947e-09
URGCP	55665	broad.mit.edu	37	chr7	43918034	43918034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttaaactgcagccagtgaGacccgatgtcacctctcagg	10	8	10	13	1	2	1	2	1	1	1	3	3	2	1	3	1	3	2	3	1	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918034G>C	ENST00000453200.1	-	6	1521	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	URGCP_ENST00000336086.6_Missense_Mutation_p.S300C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.S300C|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.S300C|URGCP_ENST00000443736.1_Missense_Mutation_p.S300C|URGCP_ENST00000402306.3_Missense_Mutation_p.S334C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	343					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCAGTGAGACCCGATGTC	0.458																																						uc003tiw.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1027-1029)tCt>tGt		Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							78	79	79					7																	43918034		1917	4134	6051	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918034G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1028C>G	7.37:g.43918034G>C	ENSP00000396918:p.Ser343Cys					URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.S300C|URGCP_uc003tiv.3_Missense_Mutation_p.S268C|URGCP_uc003tix.3_Missense_Mutation_p.S334C|URGCP_uc003tiy.3_Missense_Mutation_p.S300C|URGCP_uc003tiz.3_Missense_Mutation_p.S300C|URGCP_uc011kbj.2_Missense_Mutation_p.S300C	p.S343C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			5	1085	-			343					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1028C>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857462	0.51376	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.11712	2.76;2.76;2.75;2.76;2.75;2.76	5.66	4.76	0.60689	.	0.275583	0.35805	N	0.002979	T	0.30854	0.0778	M	0.71581	2.175	0.09310	N	0.999992	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.03000	-1.1084	10	0.72032	D	0.01	-21.899	13.8058	0.63230	0.0:0.191:0.809:0.0	.	334;343	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	C	300;300;334;300;343;300	ENSP00000223341:S300C;ENSP00000336872:S300C;ENSP00000384955:S334C;ENSP00000392136:S300C;ENSP00000396918:S343C;ENSP00000402803:S300C	ENSP00000223341:S300C	S	-	2	0	URGCP	43884559	0.545000	0.26449	1.000000	0.80357	0.996000	0.88848	2.019000	0.41001	2.673000	0.90976	0.591000	0.81541	TCT		0.458	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43918034	G	C	43918034	3	2	142	1	0	0	0	0	1	0	0	0	17023	942	33	5	1771	5	URGCP	7	43918034	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	911	43918034	115220629	28	9675			1	31		4	4	1732	G		7.604947e-09
URGCP	55665	broad.mit.edu	37	chr7	43918768	43918768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcatactgtcaaaactGatctgcagagagtcctggag	11	12	9	9	0	4	2	2	1	2	1	5	4	5	3	1	1	3	1	1	1	3	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918768G>C	ENST00000453200.1	-	6	787	c.294C>G	c.(292-294)atC>atG	p.I98M	URGCP_ENST00000336086.6_Missense_Mutation_p.I55M|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.I55M|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.I55M|URGCP_ENST00000443736.1_Missense_Mutation_p.I55M|URGCP_ENST00000402306.3_Missense_Mutation_p.I89M			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	98					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCAAAACTGATCTGCAGAG	0.507																																						uc003tiw.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(292-294)atC>atG		Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							54	57	56					7																	43918768		1899	4130	6029	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918768G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.294C>G	7.37:g.43918768G>C	ENSP00000396918:p.Ile98Met					URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.I55M|URGCP_uc003tiv.3_Missense_Mutation_p.I23M|URGCP_uc003tix.3_Missense_Mutation_p.I89M|URGCP_uc003tiy.3_Missense_Mutation_p.I55M|URGCP_uc003tiz.3_Missense_Mutation_p.I55M|URGCP_uc011kbj.2_Missense_Mutation_p.I55M	p.I98M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			5	351	-			98					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.294C>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357493	0.41801	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.6	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.77313	2.365	0.29584	N	0.848935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.56329	-0.7997	10	0.87932	D	0	-33.5955	4.7442	0.13029	0.1589:0.0:0.5345:0.3066	.	89;98	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	M	55;55;89;55;98;55;55;55	ENSP00000223341:I55M;ENSP00000336872:I55M;ENSP00000384955:I89M;ENSP00000392136:I55M;ENSP00000396918:I98M;ENSP00000402803:I55M;ENSP00000389990:I55M	ENSP00000223341:I55M	I	-	3	3	URGCP	43885293	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.850000	0.39328	0.306000	0.22856	-1.014000	0.02459	ATC		0.507	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43918768	G	C	43918768	3	2	142	1	0	0	0	0	1	0	0	0	17023	1280	45	5	2505	5	URGCP	7	43918768	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	734	43918768	115219895	29	9676			1	31		4	4	1732	G		7.604947e-09
EGFR	1956	broad.mit.edu	37	chr7	55224307	55224307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaacacttcaaaaactgcaCctccatcagtggcgatctcc	13	9	5	14	1	3	0	2	0	1	0	5	1	4	0	3	1	3	1	3	1	4	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:55224307C>T	ENST00000275493.2	+	9	1265	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	EGFR_ENST00000455089.1_Missense_Mutation_p.T318I|EGFR_ENST00000342916.3_Missense_Mutation_p.T363I|EGFR_ENST00000442591.1_Missense_Mutation_p.T363I|EGFR_ENST00000344576.2_Missense_Mutation_p.T363I|EGFR_ENST00000454757.2_Missense_Mutation_p.T310I|EGFR_ENST00000420316.2_Missense_Mutation_p.T363I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	363					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAAAACTGCACCTCCATCAGT	0.413		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1087-1089)aCc>aTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						85	87	86					7																	55224307		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55224307C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1088C>T	7.37:g.55224307C>T	ENSP00000275493:p.Thr363Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.T363I|EGFR_uc003tqi.3_Missense_Mutation_p.T363I|EGFR_uc003tqj.3_Missense_Mutation_p.T363I|EGFR_uc022adm.1_Missense_Mutation_p.T363I|EGFR_uc010kzg.2_Missense_Mutation_p.T318I|EGFR_uc022adn.1_Missense_Mutation_p.T318I|EGFR_uc011kco.2_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	p.T363I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1334	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		363					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1088C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212356	0.95069	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;T;D;D;D	0.82526	-1.62;-1.62;-1.62;0.61;-1.62;-1.62;-1.62	5.95	5.95	0.96441	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.994;0.997;0.993;0.971	D	0.94902	0.8057	10	0.87932	D	0	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	318;363;363;363;363	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	I	318;363;233;363;363;363;363;310;157	ENSP00000415559:T318I;ENSP00000342376:T363I;ENSP00000345973:T363I;ENSP00000413843:T363I;ENSP00000275493:T363I;ENSP00000410031:T363I;ENSP00000395243:T310I	ENSP00000275493:T363I	T	+	2	0	EGFR	55191801	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	7.586000	0.82596	2.825000	0.97269	0.655000	0.94253	ACC		0.413	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55224307	C	T	55224307	3	4	142	1	0	0	0	0	1	0	0	0	4967	507	18	3	1122	3	EGFR	7	55224307	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	11305539	55224307	103914356	30	9677											
NCF1	653361	broad.mit.edu	37	chr7	74193497	74193497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaggatcatcccccacCtcccaggtgagcacggggct	10	5	11	15	1	1	2	1	1	0	1	3	3	3	3	4	4	2	2	4	4	1	0			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:74193497C>T	ENST00000289473.4	+	3	293	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	75	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CATCCCCCACCTCCCAGGTGA	0.552																																						uc003ubb.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(223-225)Ctc>Ttc		Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.							1	1	1					7																	74193497		920	1695	2615	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74193497C>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.223C>T	7.37:g.74193497C>T	ENSP00000289473:p.Leu75Phe					NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron	p.L75F	NM_000265	NP_000256	P14598	NCF1_HUMAN			2	293	+			75			PX.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.223C>T	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	c	14.75	2.629625	0.46944	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000442021	T;T;T	0.74632	-0.86;-0.86;-0.86	3.43	2.45	0.29901	Phox homologous domain (5);	0.077589	0.52532	D	0.000064	T	0.81837	0.4907	M	0.77616	2.38	0.50313	D	0.999866	D;D	0.76494	0.985;0.999	P;D	0.73380	0.811;0.98	T	0.80574	-0.1322	10	0.49607	T	0.09	-21.853	5.8738	0.18819	0.1931:0.6827:0.0:0.1242	.	75;75	P14598-2;P14598	.;NCF1_HUMAN	F	75;75;82	ENSP00000289473:L75F;ENSP00000392870:L75F;ENSP00000401935:L82F	ENSP00000289473:L75F	L	+	1	0	NCF1	73831433	0.989000	0.36119	1.000000	0.80357	0.763000	0.43281	0.872000	0.28037	1.650000	0.50662	0.442000	0.29010	CTC		0.552	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		T	74193497	C	T	74193497	3	4	142	1	0	0	0	0	1	0	0	0	10216	681	24	3	233	3	NCF1	7	74193497	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	18969190	74193497	84945166	31	9678											
TRIM4	89122	broad.mit.edu	37	chr7	99516656	99516656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctctcgaaggcctcgtcGatgggtgccatggcgtgagt	6	10	15	10	4	1	1	0	1	1	0	4	3	1	1	2	3	2	1	2	3	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:99516656G>A	ENST00000355947.2	-	1	498	c.369C>T	c.(367-369)atC>atT	p.I123I	TRIM4_ENST00000349062.2_Silent_p.I123I|TRIM4_ENST00000354241.5_Silent_p.I123I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	123					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCCTCGTCGATGGGTGCCA	0.612																																						uc003usd.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(367-369)atC>atT		Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.							13	13	13					7																	99516656		2104	4060	6164	SO:0001819	synonymous_variant	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99516656G>A	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.369C>T	7.37:g.99516656G>A						TRIM4_uc003use.3_Silent_p.I123I|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Silent_p.I123I	p.I123I	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			0	568	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	123					A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	c.369C>T	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	6.921	0.539555	0.13250	.	.	ENSG00000146833	ENST00000447480	.	.	.	2.14	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.29523	N	0.853389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2624	0.06853	0.1673:0.2861:0.5465:0.0	.	.	.	.	X	25	.	.	R	-	1	2	TRIM4	99354592	0.002000	0.14202	0.648000	0.29521	0.524000	0.34500	-0.604000	0.05667	0.431000	0.26258	0.455000	0.32223	CGA		0.612	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		A	99516656	G	A	99516656	2	1	142	1	0	0	0	0	0	0	0	1	16511	1048	37	2		2	TRIM4	7	99516656	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	25323159	99516656	59622007	32	9679											
LHFPL3	375612	broad.mit.edu	37	chr7	103969236	103969237	+	In_Frame_Ins	INS	-	-	GCC																															ggagggggagaatgcccggaINSgccgccgccgctgccgccgc																								rs534523702	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:103969236_103969237insGCC	ENST00000535008.1	+	1	133_134	c.9_10insGCC	c.(10-12)gcc>GCCgcc	p.4_4A>AA	LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_In_Frame_Ins_p.4_4A>AA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	4						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						gAATGCCCGGAgccgccgccgc	0.728														48	0.00958466	0.034	0.0014	5008	,	,		10328	0.002		0	False		,,,				2504	0					uc003vce.3																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(7-12)insGCC		Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.																																				SO:0001652	inframe_insertion	375612					integral to membrane		g.chr7:103969236_103969237insGCC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.16_18dupGCC	7.37:g.103969243_103969245dupGCC	ENSP00000444350:p.Ala14dup					LHFPL3_uc003vcf.3_In_Frame_Ins_p.14_15insA|JA682610_uc022ajt.1_5'Flank	p.14_15insA	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			0	133_134	+			0					A1L383|A4D0Q5	In_Frame_Ins	INS	ENST00000535008.1	37	c.9_10insGCC																																																																																					0.728	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding		NM_199000		GCC	103969237	-	GCC	103969236	7	5	142	1	0	1	1	0	0	0	0	0	8766	291	11	0	11	0	LHFPL3	7	103969236	In_Frame_Ins	INS	-	TCGA-14-1829-01A-01W-0643-08	4452580	103969236	55169427	33	9680											
PIK3CG	5294	broad.mit.edu	37	chr7	106508126	106508126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatggagctcatccccatCgagttcgtgctgcccaccag	7	9	9	16	2	1	0	1	0	0	0	5	2	3	1	5	1	3	3	5	1	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:106508126C>T	ENST00000359195.3	+	2	430	c.120C>T	c.(118-120)atC>atT	p.I40I	PIK3CG_ENST00000496166.1_Silent_p.I40I|PIK3CG_ENST00000440650.2_Silent_p.I40I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	40	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCATCCCCATCGAGTTCGTGC	0.662																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(118-120)atC>atT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							39	44	43					7																	106508126		2202	4299	6501	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508126C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.120C>T	7.37:g.106508126C>T						PIK3CG_uc003vdu.3_Silent_p.I40I|PIK3CG_uc003vdw.3_Silent_p.I40I	p.I40I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	205	+			40					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.120C>T	CCDS5739.1																																																																																				0.662	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106508126	C	T	106508126	2	4	142	1	0	0	0	0	0	0	0	1	11916	874	31	2		2	PIK3CG	7	106508126	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	2538890	106508126	52630537	34	9681											
C7orf66	154907	broad.mit.edu	37	chr7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcttgtggacaatccGtagatatgcacctttcactt	8	16	8	9	1	2	1	1	0	1	1	3	2	3	2	2	2	1	3	2	2	3	6	rs143724624		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:108524126G>A	ENST00000379007.2	-	2	340	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	96						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348																																						uc003vfo.3																			0		p.R96Q(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(286-288)Cgg>Tgg		Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	168	148	154		286	-6.3	0	7	dbSNP_134	154	0,8600		0,0,4300	no	missense	C7orf66	NM_001024607.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/116	108524126	1,13005	2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524126G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.286C>T	7.37:g.108524126G>A	ENSP00000368292:p.Arg96Trp						p.R96W	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			1	334	-			96						Missense_Mutation	SNP	ENST00000379007.2	37	c.286C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	10.54	1.378512	0.24944	2.27E-4	0.0	ENSG00000205174	ENST00000379007	.	.	.	3.62	-6.34	0.01982	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	B	0.40636	0.335	T	0.22208	-1.0223	7	.	.	.	.	6.9306	0.24439	0.0:0.1635:0.2491:0.5874	.	96	A4D0T2	CG066_HUMAN	W	96	.	.	R	-	1	2	C7orf66	108311362	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.574000	0.05868	-1.644000	0.01517	-0.248000	0.11899	CGG		0.348	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		A	108524126	G	A	108524126	3	1	142	1	0	0	0	0	1	0	0	0	2412	1144	40	1	65	1	C7orf66	7	108524126	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	2016000	108524126	50614537	35	9682											
GPR37	2861	broad.mit.edu	37	chr7	124387325	124387325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttcgtagtacatctgtaCgttggtggcagcacggaagc	9	11	12	9	3	1	0	0	0	1	0	2	1	1	1	0	3	4	6	0	3	4	5			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:124387325C>T	ENST00000303921.2	-	2	1746	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	366					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACATCTGTACGTTGGTGGCA	0.463																																						uc003vli.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1096-1098)Gta>Ata		Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.							77	75	76					7																	124387325		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387325C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1096G>A	7.37:g.124387325C>T	ENSP00000306449:p.Val366Ile						p.V366I	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1747	-			366					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1096G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657541	0.88154	.	.	ENSG00000170775	ENST00000303921	T	0.37235	1.21	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.53481	0.1799	L	0.53249	1.67	0.58432	D	0.999999	D	0.65815	0.995	P	0.59825	0.864	T	0.46925	-0.9156	10	0.46703	T	0.11	-19.9936	18.9218	0.92528	0.0:1.0:0.0:0.0	.	366	O15354	GPR37_HUMAN	I	366	ENSP00000306449:V366I	ENSP00000306449:V366I	V	-	1	0	GPR37	124174561	1.000000	0.71417	0.956000	0.39512	0.753000	0.42808	7.818000	0.86416	2.717000	0.92951	0.563000	0.77884	GTA		0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		T	124387325	C	T	124387325	3	4	142	1	0	0	0	0	1	0	0	0	6691	536	19	1	749	1	GPR37	7	124387325	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	15863199	124387325	34751338	36	9683											
AKR1B10	57016	broad.mit.edu	37	chr7	134212671	134212671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaccaaccatggccaCgtttgtggagctcagtacca	9	10	9	13	1	2	0	1	0	1	0	2	1	2	1	4	2	4	4	4	2	2	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:134212671C>T	ENST00000359579.4	+	1	328	c.8C>T	c.(7-9)aCg>aTg	p.T3M	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	3					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ACCATGGCCACGTTTGTGGAG	0.502																																						uc003vrr.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(7-9)aCg>aTg		Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.							131	115	120					7																	134212671		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134212671C>T	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"Aldo-keto reductases"	382	protein-coding gene	gene with protein product	"aldose reductase-like 1", "aldo-keto reductase family 1, member B11 (aldose reductase-like)", "aldose reductase-like peptide", "aldose reductase-related protein", "small intestine reductase"	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.8C>T	7.37:g.134212671C>T	ENSP00000352584:p.Thr3Met						p.T3M	NM_020299	NP_064695	O60218	AK1BA_HUMAN			0	328	+			3					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.8C>T	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539614	0.27563	.	.	ENSG00000198074	ENST00000359579	T	0.33865	1.39	4.3	1.35	0.21983	NADP-dependent oxidoreductase domain (2);	0.303367	0.34484	N	0.003933	T	0.31358	0.0794	L	0.38175	1.15	0.09310	N	1	D	0.61697	0.99	P	0.48454	0.578	T	0.15723	-1.0427	10	0.62326	D	0.03	.	8.1641	0.31215	0.3213:0.5236:0.1551:0.0	.	3	O60218	AK1BA_HUMAN	M	3	ENSP00000352584:T3M	ENSP00000352584:T3M	T	+	2	0	AKR1B10	133863211	0.000000	0.05858	0.004000	0.12327	0.352000	0.29268	0.007000	0.13174	0.038000	0.15604	-0.335000	0.08231	ACG		0.502	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		T	134212671	C	T	134212671	3	4	142	1	0	0	0	0	1	0	0	0	467	536	19	1	10	1	AKR1B10	7	134212671	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	9825346	134212671	24925992	37	9684											
EBF2	64641	broad.mit.edu	37	chr8	25718712	25718712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgtagagagcttcagCaatgtctgcggctcgcttca	8	10	12	11	3	3	1	2	0	1	1	4	3	3	1	0	1	3	6	0	1	2	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:25718712C>A	ENST00000520164.1	-	13	1732	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	EBF2_ENST00000408929.3_Missense_Mutation_p.A251S|EBF2_ENST00000535548.1_Missense_Mutation_p.A130S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	399					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGAGCTTCAGCAATGTCTGCG	0.493																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.2																			0		p.I398F(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1195-1197)Gct>Tct		Homo sapiens early B-cell factor 2 (EBF2), mRNA.							113	121	118					8																	25718712		2023	4179	6202	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25718712C>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1195G>T	8.37:g.25718712C>A	ENSP00000430241:p.Ala399Ser					DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	p.A399S	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	12	1460	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	399					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1195G>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410100	0.83340	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.41758	0.99;0.99;0.99	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	M	0.83953	2.67	0.80722	D	1	B	0.34214	0.442	B	0.38803	0.282	T	0.57854	-0.7739	10	0.42905	T	0.14	-1.5021	18.9368	0.92589	0.0:1.0:0.0:0.0	.	399	Q9HAK2	COE2_HUMAN	S	399;251;130	ENSP00000430241:A399S;ENSP00000386178:A251S;ENSP00000437909:A130S	ENSP00000386178:A251S	A	-	1	0	EBF2	25774629	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	6.070000	0.71220	2.476000	0.83614	0.655000	0.94253	GCT		0.493	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25718712	C	A	25718712	3	1	142	1	0	0	0	0	1	0	0	0	4881	710	25	5	548	5	EBF2	8	25718712	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		25718712	120645310	38	9685											
LY96	23643	broad.mit.edu	37	chr8	74922304	74922304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaatcttccaaagcgcAaagaagttatttgccgagga	14	9	9	9	2	1	2	0	1	1	1	2	4	2	3	3	1	2	2	3	1	5	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:74922304A>G	ENST00000284818.2	+	3	362	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	LY96_ENST00000518893.1_Missense_Mutation_p.K61E	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	91					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCAAAGCGCAAAGAAGTTAT	0.343																																					GBM(131;1357 1748 34893 50149 52212)	uc003yad.3																			0		p.R90C(2)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(271-273)Aaa>Gaa		Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.							100	97	98					8																	74922304		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922304A>G	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.271A>G	8.37:g.74922304A>G	ENSP00000284818:p.Lys91Glu					LY96_uc022awb.1_Missense_Mutation_p.K61E	p.K91E	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		2	385	+	Breast(64;0.0311)		91					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.271A>G	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.363797	0.61513	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.74526	-0.85;-0.85	4.66	3.46	0.39613	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.189872	0.36778	N	0.002402	D	0.83889	0.5352	M	0.80028	2.48	0.31118	N	0.709176	D	0.76494	0.999	D	0.79108	0.992	T	0.82623	-0.0366	10	0.66056	D	0.02	.	8.2547	0.31748	0.798:0.202:0.0:0.0	.	91	Q9Y6Y9	LY96_HUMAN	E	91;61	ENSP00000284818:K91E;ENSP00000430533:K61E	ENSP00000284818:K91E	K	+	1	0	LY96	75084858	0.912000	0.30974	0.760000	0.31359	0.882000	0.50991	1.237000	0.32695	0.874000	0.35823	0.482000	0.46254	AAA		0.343	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		G	74922304	A	G	74922304	3	3	142	1	0	0	0	0	1	0	0	0	9102	131	5	4	281	4	LY96	8	74922304	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	49203592	74922304	71441718	39	9686											
TAF2	6873	broad.mit.edu	37	chr8	120831592	120831592	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcataacttactgttttGattcactgtgacaaacttcc	11	15	6	9	0	1	2	1	2	0	0	2	2	2	2	1	0	4	2	1	0	3	6			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:120831592G>C	ENST00000378164.2	-	3	591	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	98					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACTGTTTTGATTCACTGTG	0.289																																						uc003you.3																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(292-294)tCa>tGa		Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.							144	155	151					8																	120831592		2202	4300	6502	SO:0001587	stop_gained	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120831592G>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.293C>G	8.37:g.120831592G>C	ENSP00000367406:p.Ser98*						p.S98*	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	563	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		98					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	c.293C>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	39	7.302752	0.98200	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-27.3058	19.335	0.94312	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000367406:S98X	S	-	2	0	TAF2	120900773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.659000	0.83766	2.585000	0.87301	0.650000	0.86243	TCA		0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		C	120831592	G	C	120831592	4	2	142	1	0	0	0	0	0	1	0	0	15521	1294	45	5	3402	5	TAF2	8	120831592	Nonsense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	45909288	120831592	25532430	40	9687											
C9orf131	138724	broad.mit.edu	37	chr9	35045372	35045372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggtgtggactatctatctCcaggcccaggagaaccctca	9	9	10	13	0	3	1	1	0	2	1	4	3	3	2	3	4	1	0	3	4	3	2	rs3739871	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr9:35045372C>G	ENST00000312292.5	+	2	2793	c.2746C>G	c.(2746-2748)Cca>Gca	p.P916A	C9orf131_ENST00000421362.2_Missense_Mutation_p.P868A|C9orf131_ENST00000354479.5_Missense_Mutation_p.P843A|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	916			P -> S (in dbSNP:rs3739871).							cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTATCTATCTCCAGGCCCAGG	0.537																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2746-2748)Cca>Gca		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							147	148	147					9																	35045372		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045372C>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2746C>G	9.37:g.35045372C>G	ENSP00000308279:p.Pro916Ala					C9orf131_uc003zvu.3_Missense_Mutation_p.P868A|C9orf131_uc003zvv.3_Missense_Mutation_p.P843A|C9orf131_uc003zvx.3_Missense_Mutation_p.P881A	p.P916A	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	2775	+	all_epithelial(49;0.22)		916		P -> S (in dbSNP:rs3739871).			A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2746C>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997153	0.19043	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14266	2.52;2.52;2.52	4.11	-0.3	0.12804	.	1.472120	0.04188	N	0.327794	T	0.11623	0.0283	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.29552	0.103;0.103;0.248;0.248	B;B;B;B	0.25140	0.058;0.058;0.058;0.058	T	0.31888	-0.9927	10	0.46703	T	0.11	.	3.5446	0.07824	0.0:0.4505:0.1947:0.3549	.	391;916;843;868	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	A	868;843;916;391	ENSP00000393683:P868A;ENSP00000346472:P843A;ENSP00000308279:P916A	ENSP00000308279:P916A	P	+	1	0	C9orf131	35035372	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.403000	0.07214	0.130000	0.18549	0.563000	0.77884	CCA		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		G	35045372	C	G	35045372	3	3	142	1	0	0	0	0	1	0	0	0	2457	855	30	5	2768	5	C9orf131	9	35045372	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		35045372	106168059	41	9688											
ARHGAP22	58504	broad.mit.edu	37	chr10	49667897	49667897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccatacttccgctcGtggtggactgtttcctctag	4	12	13	12	3	1	0	0	0	1	0	4	1	3	1	3	4	1	2	3	4	2	4	rs78086414	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:49667897G>A	ENST00000249601.4	-	5	785	c.489C>T	c.(487-489)caC>caT	p.H163H	ARHGAP22_ENST00000435790.2_Silent_p.H169H|ARHGAP22_ENST00000417247.2_Silent_p.H73H|ARHGAP22_ENST00000374170.1_Silent_p.H73H|ARHGAP22_ENST00000374172.1_Silent_p.H54H|ARHGAP22_ENST00000417912.2_Silent_p.H179H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	163	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTCCGCTCGTGGTGGACTG	0.642													G|||	4	0.000798722	0	0	5008	,	,		19033	0.001		0	False		,,,				2504	0.0031					uc001jgu.3																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(535-537)caC>caT		Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.		G		0,4406		0,0,2203	36	37	37		489	-9.8	0.3	10	dbSNP_131	37	1,8595		0,1,4297	no	coding-synonymous	ARHGAP22	NM_021226.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		163/699	49667897	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667897G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.489C>T	10.37:g.49667897G>A						ARHGAP22_uc001jgs.3_Silent_p.H73H|ARHGAP22_uc001jgt.3_Silent_p.H163H|ARHGAP22_uc010qgl.2_Silent_p.H120H|ARHGAP22_uc010qgm.2_Silent_p.H169H|ARHGAP22_uc001jgv.3_5'UTR	p.H179H	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			4	834	-			163			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.537C>T	CCDS7227.1																																																																																				0.642	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		A	49667897	G	A	49667897	2	1	142	1	0	0	0	0	0	0	0	1	872	1136	40	1		1	ARHGAP22	10	49667897	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		49667897	85866850	42	9689											
TLL2	7093	broad.mit.edu	37	chr10	98156950	98156950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcgcacaaaccttcgtaCgctgcaaagaagcccttgcc	11	7	7	16	3	0	1	0	0	0	1	2	1	0	1	4	0	5	4	4	0	4	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:98156950C>T	ENST00000357947.3	-	11	1602	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	459	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A459A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCGTACGCTGCAAAGA	0.622																																						uc001kml.2																			1	Substitution - coding silent(1)	p.A459A(2)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1375-1377)gcG>gcA		Homo sapiens tolloid-like 2 (TLL2), mRNA.							75	62	66					10																	98156950		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98156950C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1377G>A	10.37:g.98156950C>T						TLL2_uc009xvf.2_Silent_p.A437A	p.A459A	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1618	-		Colorectal(252;0.0846)	459			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.1377G>A	CCDS7449.1																																																																																				0.622	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			T	98156950	C	T	98156950	2	4	142	1	0	0	0	0	0	0	0	1	15943	523	19	1		1	TLL2	10	98156950	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	48489053	98156950	37377797	43	9690											
OR4D10	390197	broad.mit.edu	37	chr11	59244963	59244963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttggcctgacccagaatCgggaagtgagcttagtctta	9	11	11	10	1	1	3	0	2	1	1	3	4	2	4	3	2	1	1	3	2	4	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:59244963C>T	ENST00000530162.1	+	1	118	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCCAGAATCGGGAAGTGAG	0.413																																						uc001nnz.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(61-63)Cgg>Tgg		Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.							90	93	92					11																	59244963		2000	4166	6166	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59244963C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.61C>T	11.37:g.59244963C>T	ENSP00000436424:p.Arg21Trp						p.R21W	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			0	61	+			21					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.61C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082998	0.20309	.	.	ENSG00000254466	ENST00000530162	T	0.00012	9.32	4.2	2.28	0.28536	.	.	.	.	.	T	0.00073	0.0002	N	0.10645	0.015	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18935	-1.0321	9	0.51188	T	0.08	.	13.8978	0.63783	0.0:0.9114:0.0:0.0886	.	21	Q8NGI6	OR4DA_HUMAN	W	21	ENSP00000436424:R21W	ENSP00000436424:R21W	R	+	1	2	OR4D10	59001539	0.000000	0.05858	0.006000	0.13384	0.000000	0.00434	0.403000	0.20982	0.320000	0.23234	-0.907000	0.02831	CGG		0.413	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		T	59244963	C	T	59244963	3	4	142	1	0	0	0	0	1	0	0	0	11054	875	31	2	63	2	OR4D10	11	59244963	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		59244963	75761553	44	9691											
PKNOX2	63876	broad.mit.edu	37	chr11	125255470	125255470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttttcccgctcctgaCgctgctgtttgagaaatgtg	5	14	9	13	2	1	2	0	2	1	1	3	3	3	2	3	0	1	4	3	0	1	3	rs201383194		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:125255470C>T	ENST00000298282.9	+	6	522	c.251C>T	c.(250-252)aCg>aTg	p.T84M	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.T20M	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	84					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCGCTCCTGACGCTGCTGTTT	0.567													C|||	1	0.000199681	0	0	5008	,	,		19762	0		0.001	False		,,,				2504	0					uc001qbu.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(250-252)aCg>aTg		Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.		C	MET/THR	1,4197		0,1,2098	121	123	123		251	5.5	1	11		123	16,8462		0,16,4223	yes	missense	PKNOX2	NM_022062.2	81	0,17,6321	TT,TC,CC		0.1887,0.0238,0.1341	probably-damaging	84/473	125255470	17,12659	2099	4239	6338	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255470C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.251C>T	11.37:g.125255470C>T	ENSP00000298282:p.Thr84Met					PKNOX2_uc010saz.2_Missense_Mutation_p.T55M|PKNOX2_uc010sba.2_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.2_Missense_Mutation_p.T20M	p.T84M	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	5	565	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	84					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.251C>T	CCDS41730.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.154745	0.94686	2.38E-4	0.001887	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	T;T;T;T	0.52526	0.66;0.66;0.66;1.55	5.51	5.51	0.81932	.	0.097175	0.64402	D	0.000001	T	0.54367	0.1854	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.69078	0.997;0.99	P;P	0.62014	0.897;0.469	T	0.60244	-0.7301	10	0.87932	D	0	-12.7131	19.4198	0.94716	0.0:1.0:0.0:0.0	.	20;84	F5GZ15;Q96KN3	.;PKNX2_HUMAN	M	55;55;84;20;72	ENSP00000434732:T55M;ENSP00000433971:T55M;ENSP00000298282:T84M;ENSP00000441470:T20M	ENSP00000298282:T84M	T	+	2	0	PKNOX2	124760680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.590000	0.87494	0.655000	0.94253	ACG		0.567	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			T	125255470	C	T	125255470	3	4	142	1	0	0	0	0	1	0	0	0	11983	536	19	1	261	1	PKNOX2	11	125255470	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	66010507	125255470	9751046	45	9692											
LTBR	4055	broad.mit.edu	37	chr12	6497971	6497971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctccattgcaggatcgCtgctcaagaggcgtccgcag	8	9	11	13	3	2	1	1	0	1	1	5	2	3	2	2	2	2	4	2	2	1	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:6497971C>T	ENST00000228918.4	+	8	1107	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	LTBR_ENST00000541102.1_Silent_p.L118L|LTBR_ENST00000539925.1_Silent_p.L242L	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	261					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGCAGGATCGCTGCTCAAGAG	0.562																																						uc001qny.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(781-783)Ctg>Ttg		Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.							89	94	93					12																	6497971		2203	4300	6503	SO:0001819	synonymous_variant	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6497971C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.781C>T	12.37:g.6497971C>T						LTBR_uc010sfc.1_Silent_p.L242L|LTBR_uc001qnz.1_Silent_p.L256L	p.L261L	NM_002342	NP_002333	P36941	TNR3_HUMAN			7	949	+			261					B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	ENST00000228918.4	37	c.781C>T	CCDS8544.1																																																																																				0.562	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			T	6497971	C	T	6497971	2	4	142	1	0	0	0	0	0	0	0	1	9077	796	28	3		3	LTBR	12	6497971	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08		6497971	127353924	46	9693											
SLC17A8	246213	broad.mit.edu	37	chr12	100811900	100811900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctctctggaatggtctGtcccctcattgtcggtgcaa	7	12	9	13	1	3	0	1	0	2	0	6	1	4	1	3	3	2	1	3	3	3	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:100811900G>A	ENST00000323346.5	+	11	1704	c.1391G>A	c.(1390-1392)tGt>tAt	p.C464Y	SLC17A8_ENST00000392989.3_Missense_Mutation_p.C414Y|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	464					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAATGGTCTGTCCCCTCATT	0.498																																						uc010svi.2																			0		p.C464S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1390-1392)tGt>tAt		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.							176	160	165					12																	100811900		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811900G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1391G>A	12.37:g.100811900G>A	ENSP00000316909:p.Cys464Tyr					SLC17A8_uc009ztx.3_Missense_Mutation_p.C414Y	p.C464Y	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			10	1704	+			464					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1391G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737065	0.89482	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57273	0.41;0.59	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.88640	2.97	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.75020	0.985;0.954	T	0.81856	-0.0740	10	0.87932	D	0	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	464;414	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	Y	464;414	ENSP00000316909:C464Y;ENSP00000376715:C414Y	ENSP00000316909:C464Y	C	+	2	0	SLC17A8	99336031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.769000	0.95229	0.650000	0.86243	TGT		0.498	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		A	100811900	G	A	100811900	3	1	142	1	0	0	0	0	1	0	0	0	14423	1377	48	3	1433	3	SLC17A8	12	100811900	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	94313929	100811900	33039995	47	9694											
SIAH3	283514	broad.mit.edu	37	chr13	46358034	46358034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgtcaccgggttggcGtgcagccccgcctcctggtg	3	7	16	15	4	1	0	1	0	0	0	2	0	2	0	5	4	2	2	5	4	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr13:46358034G>A	ENST00000400405.2	-	2	400	c.294C>T	c.(292-294)caC>caT	p.H98H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	98	His-rich.				multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCGGGTTGGCGTGCAGCCCCG	0.682																																						uc001vap.3																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(292-294)caC>caT		Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.							46	51	49					13																	46358034		2155	4234	6389	SO:0001819	synonymous_variant	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46358034G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.294C>T	13.37:g.46358034G>A							p.H98H	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			1	376	-			98			His-rich.		B7ZBP0|Q8N8M6	Silent	SNP	ENST00000400405.2	37	c.294C>T	CCDS41883.1																																																																																				0.682	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		A	46358034	G	A	46358034	2	1	142	1	0	0	0	0	0	0	0	1	14301	1136	40	1		1	SIAH3	13	46358034	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		46358034	68811844	48	9695											
NRXN3	9369	broad.mit.edu	37	chr14	80328137	80328137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttgatcctcctgtacGccatgtacaagtacaggaac	11	10	8	12	1	1	1	0	1	1	0	3	2	3	2	3	1	4	4	3	1	5	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:80328137G>A	ENST00000557594.1	+	6	2697	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	NRXN3_ENST00000281127.7_Missense_Mutation_p.A377T|NRXN3_ENST00000335750.5_Missense_Mutation_p.A1006T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.A404T|NRXN3_ENST00000554719.1_Missense_Mutation_p.A1006T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	582					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCCTGTACGCCATGTACAA	0.597																																						uc001xun.3																			0		p.Y1005Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(3016-3018)Gcc>Acc		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							73	64	67					14																	80328137		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80328137G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1744G>A	14.37:g.80328137G>A	ENSP00000451672:p.Ala582Thr					NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.A582T|NRXN3_uc010asw.3_Missense_Mutation_p.A404T|NRXN3_uc001xur.4_Missense_Mutation_p.A377T	p.A1006T	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	16	3507	+		Renal(4;0.00876)	582					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.3016G>A		.	.	.	.	.	.	.	.	.	.	G	29.6	5.016617	0.93404	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.72615	-0.67;-0.67;0.83;1.19;0.94	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.79123	2.44	0.47276	D	0.999374	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	D	0.83788	0.0229	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	404;377;582;1006	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	T	1588;1006;1006;582;377;404	ENSP00000451648:A1006T;ENSP00000338349:A1006T;ENSP00000451672:A582T;ENSP00000281127:A377T;ENSP00000394426:A404T	.	A	+	1	0	NRXN3	79397890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCC		0.597	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		A	80328137	G	A	80328137	3	1	142	1	0	0	0	0	1	0	0	0	10667	1087	38	1	3428	1	NRXN3	14	80328137	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		80328137	27021403	49	9696											
DIO3	1735	broad.mit.edu	37	chr14	102028607	102028607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggcctatggcgcctacttCgagcgtctctatgtcatcca	6	12	9	14	4	2	0	1	0	1	0	6	1	3	0	3	2	2	0	3	2	3	4	rs186983663	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:102028607C>T	ENST00000510508.4	+	1	920	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.F232F			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	258					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCCTACTTCGAGCGTCTCT	0.632													C|||	2	0.000399361	0.0015	0	5008	,	,		19300	0		0	False		,,,				2504	0					uc021sdx.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(772-774)ttC>ttT		Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.		C		5,4179		0,5,2087	54	61	58		774	0.7	1	14		58	0,8402		0,0,4201	no	coding-synonymous	DIO3	NM_001362.3		0,5,6288	TT,TC,CC		0.0,0.1195,0.0397		258/305	102028607	5,12581	2092	4201	6293	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028607C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.774C>T	14.37:g.102028607C>T						DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	p.F258F	NM_001362	NP_001353	P55073	IOD3_HUMAN			0	920	+		all_neural(303;0.185)	232					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.774C>T	CCDS41992.2																																																																																				0.632	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		T	102028607	C	T	102028607	2	4	142	1	0	0	0	0	0	0	0	1	4526	883	31	2		2	DIO3	14	102028607	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	21700470	102028607	5320933	50	9697											
CEP152	22995	broad.mit.edu	37	chr15	49076318	49076318	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgagagcaaatgtcttcCtaaatagaaaaaaagttcag	19	8	8	6	1	2	3	1	0	1	3	3	4	3	3	1	0	1	2	1	0	7	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr15:49076318C>T	ENST00000380950.2	-	10	1361		c.e10-1		CEP152_ENST00000399334.3_Splice_Site|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Splice_Site	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATGTCTTCCTAAATAGAAA	0.294																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.e10-1		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							61	54	56					15																	49076318		1811	4067	5878	SO:0001630	splice_region_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49076318C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1174-1G>A	15.37:g.49076318C>T						CEP152_uc001zwy.3_Splice_Site_p.E392_splice|CEP152_uc001zxa.2_Splice_Site_p.E299_splice	p.E392_splice	NM_001194998	NP_001181927	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	10	1367	-		all_lung(180;0.0428)	392					E7ER66|Q17RV1|Q6NTA0	Splice_Site	SNP	ENST00000380950.2	37	c.1174_splice	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006471	0.35415	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6775	0.91534	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP152	46863610	1.000000	0.71417	0.992000	0.48379	0.297000	0.27493	3.819000	0.55686	2.518000	0.84900	0.563000	0.77884	.		0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	Intron	T	49076318	C	T	49076318	5	4	142	1	0	0	0	0	0	0	1	0	3248	695	24	3	3859	3	CEP152	15	49076318	Splice_Site	SNP	C	TCGA-14-1829-01A-01W-0643-08		49076318	53455074	51	9698											
SMG1	23049	broad.mit.edu	37	chr16	18853724	18853724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactgatttcttcaagaCgcaagatgtaacttgcacgt	12	12	9	8	2	2	3	1	1	1	2	2	4	2	4	0	1	2	3	0	1	3	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr16:18853724C>T	ENST00000446231.2	-	40	6684	c.6272G>A	c.(6271-6273)cGt>cAt	p.R2091H	SMG1_ENST00000389467.3_Missense_Mutation_p.R2091H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2091					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTTCAAGACGCAAGATGTA	0.408																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(6271-6273)cGt>cAt		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.							100	90	93					16																	18853724		1931	4142	6073	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18853724C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6272G>A	16.37:g.18853724C>T	ENSP00000402515:p.Arg2091His					SMG1_uc010bwb.3_Missense_Mutation_p.R1951H|SMG1_uc010bwa.3_Missense_Mutation_p.R822H|SMG1_uc021ted.1_Missense_Mutation_p.R389H	p.R2091H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			39	6635	-			2091					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6272G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695336	0.68386	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.81078	-1.45;-1.45	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.75110	0.3805	L	0.31926	0.97	0.45995	D	0.998803	B;B	0.17465	0.022;0.015	B;B	0.09377	0.004;0.002	T	0.69113	-0.5231	10	0.52906	T	0.07	.	19.8814	0.96900	0.0:1.0:0.0:0.0	.	1951;2091	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	H	2091	ENSP00000402515:R2091H;ENSP00000374118:R2091H	ENSP00000374118:R2091H	R	-	2	0	SMG1	18761225	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.636000	0.61339	2.778000	0.95560	0.591000	0.81541	CGT		0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18853724	C	T	18853724	3	4	142	1	0	0	0	0	1	0	0	0	14795	536	19	1	4809	1	SMG1	16	18853724	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		18853724	71501029	52	9699											
FAM83G	644815	broad.mit.edu	37	chr17	18875008	18875008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggggtcctgggaagccGtctttatccctagtccctga	6	11	12	12	1	1	1	0	1	1	0	4	2	4	2	4	3	1	0	4	3	4	4	rs187116335		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:18875008G>A	ENST00000388995.6	-	6	2359	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	FAM83G_ENST00000585154.2_Silent_p.D712D|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.D712D|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	712					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGAAGCCGTCTTTATCCC	0.622													G|||	1	0.000199681	0	0	5008	,	,		17217	0.001		0	False		,,,				2504	0					uc002guw.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2134-2136)gaC>gaT		Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.		G	,,	0,3986		0,0,1993	47	56	53		2136,,	-4.4	0.1	17		53	3,8305		0,3,4151	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,3,6144	AA,AG,GG		0.0361,0.0,0.0244	,,	712/824,,	18875008	3,12291	1993	4154	6147	SO:0001819	synonymous_variant	644815							g.chr17:18875008G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2136C>T	17.37:g.18875008G>A						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.D712D	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	2303	-			712					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.2136C>T	CCDS42276.1																																																																																				0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			A	18875008	G	A	18875008	2	1	142	1	0	0	0	0	0	0	0	1	5639	1136	40	1		1	FAM83G	17	18875008	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		18875008	62320202	53	9700											
KCNJ12	3768	broad.mit.edu	37	chr17	21319359	21319359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgcagctcatcaagccGcgggtcaccgaggagggcga	8	3	16	14	7	3	0	3	0	0	0	3	3	3	1	2	3	2	2	2	3	1	0	rs147653221	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:21319359G>A	ENST00000583088.1	+	3	1600	c.705G>A	c.(703-705)ccG>ccA	p.P235P	KCNJ12_ENST00000331718.5_Silent_p.P235P	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	235					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCATCAAGCCGCGGGTCACCG	0.632										Prostate(3;0.18)																												uc021tss.1																			0											c.(703-705)ccG>ccA		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.		G		11,4395	11.4+/-27.6	0,11,2192	93	72	79		705	-7.4	0.2	17	dbSNP_134	79	11,8589	6.4+/-24.3	0,11,4289	no	coding-synonymous	KCNJ12	NM_021012.4		0,22,6481	AA,AG,GG		0.1279,0.2497,0.1692		235/434	21319359	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319359G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.705G>A	17.37:g.21319359G>A						KCNJ18_uc002gyv.1_Silent_p.P235P|KCNJ18_uc021tst.1_Silent_p.P235P	p.P235P	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	1075	+			235					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.705G>A	CCDS11219.1																																																																																				0.632	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		A	21319359	G	A	21319359	2	1	142	1	0	0	0	0	0	0	0	1	8046	1074	38	1		1	KCNJ12	17	21319359	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	2444351	21319359	59875851	54	9701											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843451	40843451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccatctgcctgtcactCaggtagtgataggggatacg	9	10	13	9	1	3	1	2	1	1	0	3	3	3	3	2	4	2	1	2	4	3	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:40843451C>A	ENST00000264638.4	+	15	2483	c.2266C>A	c.(2266-2268)Cag>Aag	p.Q756K	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	756	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCTGTCACTCAGGTAGTGAT	0.587																																						uc002iay.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2266-2268)Cag>Aag		Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.							103	86	92					17																	40843451		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843451C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2266C>A	17.37:g.40843451C>A	ENSP00000264638:p.Gln756Lys					CNTNAP1_uc010wgs.2_Non-coding_Transcript	p.Q756K	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	14	2482	+		Breast(137;0.000143)	756			Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2266C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684474	0.47991	.	.	ENSG00000108797	ENST00000264638	T	0.12879	2.64	5.31	5.31	0.75309	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.086033	0.50627	D	0.000103	T	0.16599	0.0399	L	0.48218	1.51	0.38663	D	0.952118	B	0.28998	0.23	B	0.30716	0.119	T	0.05903	-1.0857	10	0.27082	T	0.32	.	19.1626	0.93539	0.0:1.0:0.0:0.0	.	756	P78357	CNTP1_HUMAN	K	756	ENSP00000264638:Q756K	ENSP00000264638:Q756K	Q	+	1	0	CNTNAP1	38096977	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.789000	0.62446	2.768000	0.95171	0.561000	0.74099	CAG		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		A	40843451	C	A	40843451	3	1	142	1	0	0	0	0	1	0	0	0	3646	827	29	5	2324	5	CNTNAP1	17	40843451	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	19524092	40843451	40351759	55	9702											
METRNL	284207	broad.mit.edu	37	chr17	81042908	81042908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtacccaacaggtgctCtcatcgttaacctgcggccc	8	9	10	14	2	1	0	1	0	1	0	3	1	1	1	3	3	5	3	3	3	3	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042908C>A	ENST00000320095.7	+	2	390	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	METRNL_ENST00000570778.1_Missense_Mutation_p.L7I|METRNL_ENST00000571814.1_Missense_Mutation_p.L7I	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	89					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACAGGTGCTCTCATCGTTAA	0.617																																						uc002kgh.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(265-267)Ctc>Atc		Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.							137	134	135					17																	81042908		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042908C>A	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.265C>A	17.37:g.81042908C>A	ENSP00000315731:p.Leu89Ile					METRNL_uc002kgi.3_Missense_Mutation_p.L7I	p.L89I	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		1	390	+	Breast(20;0.000443)|all_neural(118;0.0779)		89					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.265C>A	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.846265	0.32606	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.27	4.27	0.50696	.	0.119134	0.56097	D	0.000031	T	0.56426	0.1984	L	0.47016	1.485	0.34633	D	0.719879	D	0.61697	0.99	P	0.57152	0.814	T	0.65384	-0.6181	8	.	.	.	-35.8667	9.7901	0.40699	0.2054:0.7946:0.0:0.0	.	89	Q641Q3	METRL_HUMAN	I	89	.	.	L	+	1	0	METRNL	78636197	0.996000	0.38824	0.981000	0.43875	0.025000	0.11179	3.439000	0.52878	2.392000	0.81423	0.552000	0.68991	CTC		0.617	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		A	81042908	C	A	81042908	3	1	142	1	0	0	0	0	1	0	0	0	9489	913	32	5	271	5	METRNL	17	81042908	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	40199457	81042908	152302	56	9703											
METRNL	284207	broad.mit.edu	37	chr17	81042984	81042984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcaggtccttcacggactCctcgggggccaatatttatt	8	12	9	12	2	2	0	2	0	0	0	5	1	4	1	3	4	0	0	3	4	3	5			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042984C>T	ENST00000320095.7	+	2	466	c.341C>T	c.(340-342)tCc>tTc	p.S114F	METRNL_ENST00000570778.1_Missense_Mutation_p.S32F|METRNL_ENST00000571814.1_Missense_Mutation_p.S32F	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	114					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTCACGGACTCCTCGGGGGCC	0.592																																						uc002kgh.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(340-342)tCc>tTc		Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.							71	77	75					17																	81042984		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042984C>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.341C>T	17.37:g.81042984C>T	ENSP00000315731:p.Ser114Phe					METRNL_uc002kgi.3_Missense_Mutation_p.S32F	p.S114F	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		1	466	+	Breast(20;0.000443)|all_neural(118;0.0779)		114					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.341C>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	3.783	-0.045222	0.07452	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	N	0.25144	0.715	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.60188	-0.7312	8	.	.	.	-38.0803	14.6277	0.68635	0.0:1.0:0.0:0.0	.	114	Q641Q3	METRL_HUMAN	F	114	.	.	S	+	2	0	METRNL	78636273	1.000000	0.71417	0.960000	0.40013	0.725000	0.41563	4.273000	0.58914	2.392000	0.81423	0.552000	0.68991	TCC		0.592	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		T	81042984	C	T	81042984	3	4	142	1	0	0	0	0	1	0	0	0	9489	855	30	3	347	3	METRNL	17	81042984	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	76	81042984	152226	57	9704											
MUC16	94025	broad.mit.edu	37	chr19	9026244	9026244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggagccagtgcgacGcatgtcctcctcgtactgca	6	10	10	15	3	0	0	0	0	0	0	4	2	3	1	4	1	4	3	4	1	1	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9026244G>A	ENST00000397910.4	-	14	36945	c.36742C>T	c.(36742-36744)Cgt>Tgt	p.R12248C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12250	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTGCGACGCATGTCCTCC	0.542																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36742-36744)Cgt>Tgt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							247	226	233					19																	9026244		2080	4214	6294	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9026244G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36742C>T	19.37:g.9026244G>A	ENSP00000381008:p.Arg12248Cys						p.R12248C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			13	36946	-			12250			SEA 2.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36742C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.755	-0.050842	0.07407	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.58	-5.15	0.02866	.	.	.	.	.	T	0.21145	0.0509	L	0.47716	1.5	.	.	.	P	0.39044	0.656	B	0.38562	0.276	T	0.05305	-1.0893	8	0.87932	D	0	.	2.2806	0.04113	0.14:0.2219:0.4387:0.1994	.	12248	B5ME49	.	C	12248	ENSP00000381008:R12248C	ENSP00000381008:R12248C	R	-	1	0	MUC16	8887244	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.232000	0.00547	-2.907000	0.00309	0.195000	0.17529	CGT		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9026244	G	A	9026244	3	1	142	1	0	0	0	0	1	0	0	0	9973	1087	38	1	7065	1	MUC16	19	9026244	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		9026244	50102739	58	9705											
MUC16	94025	broad.mit.edu	37	chr19	9085463	9085463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgttcaaagtactcgCggctgtattctggggaccat	9	12	11	9	2	3	0	2	0	1	0	4	1	3	1	1	3	1	4	1	3	3	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9085463C>T	ENST00000397910.4	-	1	6555	c.6352G>A	c.(6352-6354)Gcg>Acg	p.A2118T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTACTCGCGGCTGTATTC	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6352-6354)Gcg>Acg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							130	127	128					19																	9085463		1925	4126	6051	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085463C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6352G>A	19.37:g.9085463C>T	ENSP00000381008:p.Ala2118Thr						p.A2118T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	6556	-			2118			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6352G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.540505	0.27563	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	0.235	0.15431	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.44065	-0.9352	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	T	2118	ENSP00000381008:A2118T	ENSP00000381008:A2118T	A	-	1	0	MUC16	8946463	0.005000	0.15991	0.009000	0.14445	0.009000	0.06853	-0.509000	0.06336	-0.656000	0.05380	-0.647000	0.03941	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9085463	C	T	9085463	3	4	142	1	0	0	0	0	1	0	0	0	9973	768	27	1	37507	1	MUC16	19	9085463	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	59219	9085463	50043520	59	9706											
MAN2B1	4125	broad.mit.edu	37	chr19	12768940	12768940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccaggcccaccagcgcctCcagctggttgcacacctgga	7	5	11	18	2	0	0	0	0	0	0	1	1	1	1	6	3	3	3	6	3	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:12768940C>G	ENST00000456935.2	-	10	1286	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	MAN2B1_ENST00000221363.4_Missense_Mutation_p.E415Q|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	416					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAGCGCCTCCAGCTGGTTG	0.687																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1246-1248)Gag>Cag		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							23	28	26					19																	12768940		2203	4298	6501	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12768940C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1246G>C	19.37:g.12768940C>G	ENSP00000395473:p.Glu416Gln					MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q	p.E416Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN			9	1322	-			416					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1246G>C	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418049	0.62622	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.82433	-1.61;-1.61	4.95	4.95	0.65309	Glycoside hydrolase, family 38, central domain (2);	0.486110	0.16411	N	0.215592	D	0.90232	0.6946	M	0.76433	2.335	0.51233	D	0.999918	P;D	0.53619	0.759;0.961	B;D	0.66351	0.437;0.943	D	0.90000	0.4114	10	0.51188	T	0.08	-29.991	15.7237	0.77736	0.0:1.0:0.0:0.0	.	415;416	G5E928;O00754	.;MA2B1_HUMAN	Q	416;355;415	ENSP00000395473:E416Q;ENSP00000221363:E415Q	ENSP00000221363:E415Q	E	-	1	0	MAN2B1	12629940	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.699000	0.68310	2.295000	0.77249	0.306000	0.20318	GAG		0.687	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			G	12768940	C	G	12768940	3	3	142	1	0	0	0	0	1	0	0	0	9216	864	30	5	1849	5	MAN2B1	19	12768940	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	3683477	12768940	46360043	60	9707											
IL12RB1	3594	broad.mit.edu	37	chr19	18171938	18171938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggcatccttacctccttCcctccagggaactcaatggc	10	9	7	15	0	1	0	1	0	0	0	5	1	5	1	5	3	2	1	5	3	4	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:18171938C>A	ENST00000600835.2	-	16	2083	c.1785G>T	c.(1783-1785)ggG>ggT	p.G595G	IL12RB1_ENST00000593993.2_Silent_p.G595G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	595					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TTACCTCCTTCCCTCCAGGGA	0.552																																						uc002nhx.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1903-1905)ggG>ggT		Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.							40	43	42					19																	18171938		1944	4139	6083	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18171938C>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1785G>T	19.37:g.18171938C>A						IL12RB1_uc002nhw.1_Silent_p.G595G|IL12RB1_uc010xqb.1_Silent_p.G595G	p.G635G	NM_005535	NP_005526	P42701	I12R1_HUMAN			15	1956	-			595					A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1905G>T	CCDS54232.1																																																																																				0.552	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18171938	C	A	18171938	2	1	142	1	0	0	0	0	0	0	0	1	7626	842	30	5		5	IL12RB1	19	18171938	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	5402998	18171938	40957045	61	9708											
MLL4	9757	broad.mit.edu	37	chr19	36212329	36212329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagctgagcctgagcctCgggcagtgggccgcaccaac	7	5	13	16	2	0	2	0	2	0	0	2	2	1	2	5	2	4	3	5	2	1	0	rs372982681		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:36212329C>T	ENST00000222270.7	+	3	2080	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	KMT2B_ENST00000420124.1_Missense_Mutation_p.R694W|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Silent_p.L549L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	694	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCTGAGCCTCGGGCAGTGGG	0.642																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(2080-2082)Cgg>Tgg		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.		C	TRP/ARG	0,4086		0,0,2043	18	22	21		2080	3.8	0.9	19		21	1,8367		0,1,4183	no	missense	MLL4	NM_014727.1	101	0,1,6226	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	694/2716	36212329	1,12453	2043	4184	6227	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36212329C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2080C>T	19.37:g.36212329C>T	ENSP00000222270:p.Arg694Trp	HNSCC(34;0.089)				MLL2_uc021usu.1_5'UTR	p.R694W	NM_014727	NP_055542	O14686	MLL2_HUMAN			2	2080	+			825	Missing (in Ref. 1; AAC51734).		Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2080C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056876	0.55325	0.0	1.2E-4	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85339	-1.97;-1.97	4.86	3.8	0.43715	.	0.000000	0.37219	N	0.002191	D	0.82866	0.5130	N	0.14661	0.345	0.35362	D	0.788301	D	0.76494	0.999	P	0.62014	0.897	D	0.86629	0.1884	10	0.51188	T	0.08	.	11.3844	0.49776	0.1885:0.8115:0.0:0.0	.	694	Q9UMN6	MLL4_HUMAN	W	694	ENSP00000222270:R694W;ENSP00000398837:R694W	ENSP00000222270:R694W	R	+	1	2	AD000671.1	40904169	0.166000	0.22962	0.928000	0.36995	0.992000	0.81027	0.487000	0.22356	1.218000	0.43458	0.555000	0.69702	CGG		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36212329	C	T	36212329	3	4	142	1	0	0	0	0	1	0	0	0	9623	875	31	2	2090	2	MLL4	19	36212329	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	18040391	36212329	22916654	62	9709											
NLRP12	91662	broad.mit.edu	37	chr19	54327194	54327194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtccttcctgtttatccGctcaaaggtgctgagagcca	8	11	10	12	1	1	1	1	1	0	1	4	2	4	1	4	2	2	3	4	2	2	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54327194G>A	ENST00000324134.6	-	1	403	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	NLRP12_ENST00000345770.5_Missense_Mutation_p.R79W|NLRP12_ENST00000351894.4_Missense_Mutation_p.R79W|NLRP12_ENST00000354278.3_Missense_Mutation_p.R79W|NLRP12_ENST00000391773.1_Missense_Mutation_p.R79W|NLRP12_ENST00000391775.3_Missense_Mutation_p.R79W|NLRP12_ENST00000535162.1_Missense_Mutation_p.R79W|NLRP12_ENST00000391772.1_Missense_Mutation_p.R79W	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	79	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGTTTATCCGCTCAAAGGTG	0.622																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(235-237)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							104	102	103					19																	54327194		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327194G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.235C>T	19.37:g.54327194G>A	ENSP00000319377:p.Arg79Trp					NLRP12_uc002qch.4_Missense_Mutation_p.R79W|NLRP12_uc002qci.4_Missense_Mutation_p.R79W|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R79W	p.R79W	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	0	455	-	Ovarian(34;0.19)		79			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.235C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	5.960	0.361152	0.11296	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27	4.87	-1.76	0.08006	Pyrin (2);DEATH-like (2);	0.188500	0.25774	N	0.028399	T	0.42040	0.1185	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.19935	0.04;0.04;0.04;0.04	B;B;B;B	0.19148	0.024;0.002;0.002;0.002	T	0.29579	-1.0007	10	0.51188	T	0.08	.	3.9705	0.09451	0.194:0.0:0.307:0.499	.	79;79;79;79	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	W	79	ENSP00000319377:R79W;ENSP00000438030:R79W;ENSP00000340473:R79W;ENSP00000346231:R79W;ENSP00000375655:R79W;ENSP00000375653:R79W;ENSP00000375652:R79W	ENSP00000319377:R79W	R	-	1	2	NLRP12	59019006	0.001000	0.12720	0.014000	0.15608	0.092000	0.18411	0.142000	0.16096	0.148000	0.19059	-0.439000	0.05793	CGG		0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54327194	G	A	54327194	3	1	142	1	0	0	0	0	1	0	0	0	10474	1086	38	1	3086	1	NLRP12	19	54327194	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	18114865	54327194	4801789	63	9710											
LILRB2	10288	broad.mit.edu	37	chr19	54782762	54782762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcccccgtaggagcggCtcacagggcccagggtgaag	8	4	16	13	2	1	1	1	1	0	0	1	2	1	2	3	5	1	2	3	5	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54782762C>G	ENST00000391749.4	-	6	1131	c.860G>C	c.(859-861)aGc>aCc	p.S287T	LILRB2_ENST00000314446.5_Missense_Mutation_p.S287T|LILRB2_ENST00000434421.1_Missense_Mutation_p.S171T|LILRB2_ENST00000391748.1_Missense_Mutation_p.S287T|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.S287T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	287	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGAGCGGCTCACAGGGCC	0.647																																						uc002qfb.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(859-861)aGc>aCc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.							40	41	41					19																	54782762		2203	4295	6498	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782762C>G	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.860G>C	19.37:g.54782762C>G	ENSP00000375629:p.Ser287Thr					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.S287T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.S287T|LILRB2_uc010yet.2_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_Non-coding_Transcript	p.S287T	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1126	-	Ovarian(34;0.19)		287			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.860G>C	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963709	0.34659	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	2.87	0.51	0.16983	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.368370	0.01419	N	0.014306	T	0.18551	0.0445	N	0.17800	0.525	0.09310	N	1	B;P;B	0.42456	0.061;0.78;0.263	B;P;P	0.54026	0.144;0.74;0.469	T	0.23013	-1.0200	10	0.62326	D	0.03	.	5.8253	0.18550	0.0:0.6923:0.0:0.3077	.	287;304;287	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	T	287;287;287;287;171	ENSP00000375628:S287T;ENSP00000319960:S287T;ENSP00000375629:S287T;ENSP00000375626:S287T;ENSP00000410117:S171T	ENSP00000319960:S287T	S	-	2	0	LILRB2	59474574	0.000000	0.05858	0.001000	0.08648	0.424000	0.31475	-0.575000	0.05861	0.335000	0.23614	0.449000	0.29647	AGC		0.647	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			G	54782762	C	G	54782762	3	3	142	1	0	0	0	0	1	0	0	0	8791	797	28	5	972	5	LILRB2	19	54782762	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	455568	54782762	4346221	64	9711											
PEX14	5195	broad.mit.edu	37	chr1	10555347	10555347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagccaagctctactccagGaagtgaaaatgtgctgcctc	11	8	10	12	0	1	1	0	1	1	0	3	2	2	2	3	1	5	3	3	1	5	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:10555347G>A	ENST00000356607.4	+	2	133	c.53G>A	c.(52-54)gGa>gAa	p.G18E	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	18					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACTCCAGGAAGTGAAAAT	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001arn.3																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(52-54)gGa>gAa		Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.							144	136	139					1																	10555347		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10555347G>A	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.53G>A	1.37:g.10555347G>A	ENSP00000349016:p.Gly18Glu		OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.G18E|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.G18E|PEX14_uc001arl.3_Non-coding_Transcript	p.G18E	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	1	74	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	18					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.53G>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655353	0.29425	.	.	ENSG00000142655	ENST00000356607	T	0.21191	2.02	5.19	4.07	0.47477	.	0.079541	0.50627	D	0.000112	T	0.09512	0.0234	N	0.17082	0.46	0.80722	D	1	B;B	0.17038	0.004;0.02	B;B	0.12837	0.007;0.008	T	0.13629	-1.0502	10	0.02654	T	1	.	7.5927	0.28029	0.1031:0.1863:0.7106:0.0	.	18;18	O75381-2;O75381	.;PEX14_HUMAN	E	18	ENSP00000349016:G18E	ENSP00000349016:G18E	G	+	2	0	PEX14	10477934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.419000	0.44671	2.413000	0.81919	0.655000	0.94253	GGA		0.428	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			A	10555347	G	A	10555347	3	1	143	1	0	0	0	0	1	0	0	0	11742	1174	41	3	59	3	PEX14	1	10555347	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		10555347	238695274	1	9712											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919972	12919972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagactctttgcaaactcGttttctccaggtgccatcat	9	14	7	11	1	3	2	1	1	2	1	5	2	3	2	2	1	3	2	2	1	2	3	rs267597976		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:12919972G>A	ENST00000240189.2	+	3	799	c.712G>A	c.(712-714)Gtt>Att	p.V238I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	238					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAAACTCGTTTTCTCCAG	0.448																																						uc001aum.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(712-714)Gtt>Att		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.							111	114	113					1																	12919972		2203	4299	6502	SO:0001583	missense	65122							g.chr1:12919972G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.712G>A	1.37:g.12919972G>A	ENSP00000240189:p.Val238Ile						p.V238I	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	799	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	238						Missense_Mutation	SNP	ENST00000240189.2	37	c.712G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.177	-1.065679	0.01934	.	.	ENSG00000120952	ENST00000240189	T	0.00932	5.53	0.842	-1.68	0.08212	.	2.814710	0.01347	N	0.011776	T	0.00695	0.0023	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.49011	-0.8983	10	0.12430	T	0.62	.	0.2009	0.00145	0.246:0.2595:0.2612:0.2333	.	238	O60811	PRAM2_HUMAN	I	238	ENSP00000240189:V238I	ENSP00000240189:V238I	V	+	1	0	PRAMEF2	12842559	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-3.821000	0.00358	-1.715000	0.01389	-1.111000	0.02071	GTT		0.448	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12919972	G	A	12919972	3	1	143	1	0	0	0	0	1	0	0	0	12435	1145	40	1	718	1	PRAMEF2	1	12919972	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2364625	12919972	236330649	2	9713											
C1orf173	127254	broad.mit.edu	37	chr1	75055329	75055329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttaccaccttcctccaacCcagggagacctgcctttttg	8	11	6	16	0	0	1	0	0	0	1	2	2	2	1	7	1	3	0	7	1	2	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:75055329C>A	ENST00000326665.5	-	12	2380	c.2162G>T	c.(2161-2163)gGg>gTg	p.G721V	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G524V	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		721	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTCCAACCCAGGGAGACC	0.473																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2161-2163)gGg>gTg		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							290	280	283					1																	75055329		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055329C>A																												ENST00000326665.5:c.2162G>T	1.37:g.75055329C>A	ENSP00000322609:p.Gly721Val					CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G515V	p.G721V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	2381	-			721			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2162G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237639	0.39598	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.65;2.23	5.71	2.48	0.30137	.	.	.	.	.	T	0.07052	0.0179	L	0.29908	0.895	0.31395	N	0.677392	P;D	0.53151	0.828;0.958	B;P	0.51229	0.395;0.663	T	0.21143	-1.0254	9	0.32370	T	0.25	-2.4868	5.5347	0.17005	0.0:0.6229:0.0:0.3771	.	524;721	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	V	721;524	ENSP00000322609:G721V;ENSP00000398581:G524V	ENSP00000322609:G721V	G	-	2	0	C1orf173	74827917	0.192000	0.23301	0.292000	0.24919	0.668000	0.39293	1.047000	0.30367	0.768000	0.33290	0.643000	0.83706	GGG		0.473	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75055329	C	A	75055329	3	1	143	1	0	0	0	0	1	0	0	0	2014	623	22	5	2442	5	C1orf173	1	75055329	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	62135357	75055329	174195292	3	9714											
GBP5	115362	broad.mit.edu	37	chr1	89732739	89732739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctcagagtccacactaAgtctgggaagaagctcgcag	12	8	10	11	1	3	2	1	0	2	2	6	3	4	3	1	1	1	2	1	1	3	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:89732739A>T	ENST00000370459.3	-	5	653	c.526T>A	c.(526-528)Tta>Ata	p.L176I	GBP5_ENST00000343435.5_Missense_Mutation_p.L176I|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	176	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCACACTAAGTCTGGGAAG	0.493																																						uc001dnc.3																			0		p.D175Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(526-528)Tta>Ata		Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.							131	131	131					1																	89732739		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732739A>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.526T>A	1.37:g.89732739A>T	ENSP00000359488:p.Leu176Ile					GBP5_uc001dnd.3_Missense_Mutation_p.L176I|GBP5_uc001dne.1_Missense_Mutation_p.L176I	p.L176I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	5	1063	-			176					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.526T>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420503	0.83559	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.79352	-1.26;-1.26;-1.26	4.5	2.15	0.27550	Guanylate-binding protein, N-terminal (1);	0.138983	0.46758	D	0.000272	T	0.65091	0.2658	L	0.60904	1.88	0.27529	N	0.951141	P	0.45768	0.866	P	0.49421	0.61	T	0.60796	-0.7192	10	0.87932	D	0	-4.6286	6.5291	0.22316	0.7763:0.0:0.2237:0.0	.	176	Q96PP8	GBP5_HUMAN	I	176	ENSP00000340396:L176I;ENSP00000359488:L176I;ENSP00000403010:L176I	ENSP00000340396:L176I	L	-	1	2	GBP5	89505327	0.994000	0.37717	0.995000	0.50966	0.960000	0.62799	3.694000	0.54742	0.372000	0.24591	0.369000	0.22263	TTA		0.493	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		T	89732739	A	T	89732739	3	4	143	1	0	0	0	0	1	0	0	0	6277	69	3	5	1262	5	GBP5	1	89732739	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	14677410	89732739	159517882	4	9715											
TCHHL1	126637	broad.mit.edu	37	chr1	152058703	152058703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttctgctgcaggtgcGtttttgctgttcacaaatgc	5	16	10	10	1	2	0	1	0	1	0	3	0	3	0	1	1	5	5	1	1	1	4	rs150195731	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:152058703G>A	ENST00000368806.1	-	3	1519	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	485							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCAGGTGCGTTTTTGCTGT	0.478																																						uc001ezo.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1453-1455)aaC>aaT		Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.		G		2,4404		0,2,2201	253	220	231		1455	-6.4	0	1	dbSNP_134	231	1,8599		0,1,4299	no	coding-synonymous	TCHHL1	NM_001008536.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		485/905	152058703	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058703G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1455C>T	1.37:g.152058703G>A							p.N485N	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	1520	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		485					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1455C>T	CCDS30857.1																																																																																				0.478	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		A	152058703	G	A	152058703	2	1	143	1	0	0	0	0	0	0	0	1	15698	1136	40	1		1	TCHHL1	1	152058703	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	62325964	152058703	97191918	5	9716											
RGS21	431704	broad.mit.edu	37	chr1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagactttaagaaaaCgaaaaatgcagacaaaattg	20	8	8	5	1	0	4	0	1	0	3	0	5	0	4	0	0	2	1	0	0	8	3	rs369430749		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:192321267C>T	ENST00000417209.2	+	4	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	60	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													C|||	1	0.000199681	8e-04	0	5008	,	,		16349	0		0	False		,,,				2504	0					uc001gsh.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(178-180)aCg>aTg		Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.		C	MET/THR	0,3690		0,0,1845	67	64	65		179	5.8	1	1		65	1,8223		0,1,4111	no	missense	RGS21	NM_001039152.3	81	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	60/153	192321267	1,11913	1845	4112	5957	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321267C>T	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.179C>T	1.37:g.192321267C>T	ENSP00000428343:p.Thr60Met						p.T60M	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			3	353	+			60			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.179C>T	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288527	0.59976	0.0	1.22E-4	ENSG00000253148	ENST00000417209	T	0.29655	1.56	5.77	5.77	0.91146	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.34828	U	0.003657	T	0.49064	0.1535	L	0.46885	1.475	0.34163	D	0.668843	D	0.69078	0.997	D	0.63793	0.918	T	0.57734	-0.7760	10	0.62326	D	0.03	.	18.5418	0.91031	0.0:1.0:0.0:0.0	.	60	Q2M5E4	RGS21_HUMAN	M	60	ENSP00000428343:T60M	ENSP00000428343:T60M	T	+	2	0	RGS21	190587890	1.000000	0.71417	0.994000	0.49952	0.670000	0.39368	2.937000	0.48979	2.733000	0.93635	0.557000	0.71058	ACG		0.348	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			T	192321267	C	T	192321267	3	4	143	1	0	0	0	0	1	0	0	0	13304	536	19	1	189	1	RGS21	1	192321267	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	40262564	192321267	56929354	6	9717											
FAM58B	339521	broad.mit.edu	37	chr1	200183231	200183231	+	IGR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggccctgctgcgggaCagctaccacggggggctgtg	4	6	18	13	2	0	0	0	0	0	0	0	1	0	1	3	5	4	3	3	5	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:200183231C>G								NR5A2 (36679 upstream) : RP11-532L16.3 (101331 downstream)																							TGCTGCGGGACAGCTACCACG	0.652																																						uc009wzi.1																			0				lung(1)	1						c.(538-540)gaC>gaG		Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.							33	36	35					1																	200183231		2203	4299	6502	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183231C>G																													1.37:g.200183231C>G							p.D180E	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			0	576	+			180						Missense_Mutation	SNP		37	c.540C>G																																																																																				0	0.652									G	200183231	C	G	200183231	1	3	143	0	1	0	0	0	0	0	0	0	5591	477	17	5		5	FAM58B	1	200183231	IGR	SNP	C	TCGA-14-2554-01A-01D-1494-08	7861964	200183231	49067390	7	9718											
KCNH1	3756	broad.mit.edu	37	chr1	211192295	211192295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcaggtagttcatgcGgataagtttggggtcagaaa	10	12	13	6	2	4	1	3	0	1	1	4	2	4	2	0	4	1	3	0	4	3	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:211192295G>A	ENST00000271751.4	-	6	889	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	KCNH1_ENST00000367007.4_Missense_Mutation_p.R288C			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGTTCATGCGGATAAGTTTG	0.448																																						uc001hib.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(862-864)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.							229	208	215					1																	211192295		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192295G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.862C>T	1.37:g.211192295G>A	ENSP00000271751:p.Arg288Cys					KCNH1_uc001hic.2_Missense_Mutation_p.R288C	p.R288C	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	1032	-			288					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.862C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364929	0.82463	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97791	-4.54;-4.54	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.40728	T	0.16	.	17.6077	0.88044	0.0:0.0:1.0:0.0	.	288;288	Q14CL3;O95259	.;KCNH1_HUMAN	C	288	ENSP00000271751:R288C;ENSP00000355974:R288C	ENSP00000271751:R288C	R	-	1	0	KCNH1	209258918	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.592000	0.82676	2.402000	0.81655	0.462000	0.41574	CGC		0.448	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	211192295	G	A	211192295	3	1	143	1	0	0	0	0	1	0	0	0	8031	1116	39	2	2131	2	KCNH1	1	211192295	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	11009064	211192295	38058326	8	9719											
OBSCN	84033	broad.mit.edu	37	chr1	228479711	228479711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtggagtggaggaagggGcccgagaacctcagagatgg	10	5	18	8	1	1	2	1	0	0	2	1	7	1	5	3	6	1	0	3	6	2	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:228479711G>A	ENST00000422127.1	+	39	10496	c.10452G>A	c.(10450-10452)ggG>ggA	p.G3484G	OBSCN_ENST00000366707.4_Silent_p.G603G|OBSCN_ENST00000366709.4_Silent_p.G603G|OBSCN_ENST00000570156.2_Silent_p.G3913G|OBSCN_ENST00000284548.11_Silent_p.G3484G|OBSCN_ENST00000359599.6_Silent_p.G2331G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3484	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGAAGGGGCCCGAGAACC	0.617																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10450-10452)ggG>ggA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							83	84	84					1																	228479711		2025	4166	6191	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479711G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10452G>A	1.37:g.228479711G>A						OBSCN_uc001hsn.3_Silent_p.G3484G|OBSCN_uc001hsq.1_Silent_p.G740G	p.G3484G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			38	10496	+		Prostate(94;0.0405)	3484			Ig-like 35.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10452G>A	CCDS58065.1																																																																																				0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228479711	G	A	228479711	2	1	143	1	0	0	0	0	0	0	0	1	10812	1190	42	3		3	OBSCN	1	228479711	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	17287416	228479711	20770910	9	9720											
OR2T6	254879	broad.mit.edu	37	chr1	248551519	248551519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatgtatgtgtgctgcGttgcaatgctgctgatcccc	6	13	12	10	1	0	2	0	2	0	0	1	2	1	2	2	0	5	6	2	0	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:248551519G>A	ENST00000355728.2	+	1	610	c.610G>A	c.(610-612)Gtt>Att	p.V204I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGCTGCGTTGCAATGCT	0.517																																						uc001iei.1																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(610-612)Gtt>Att		Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.							286	214	238					1																	248551519		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551519G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.610G>A	1.37:g.248551519G>A	ENSP00000347965:p.Val204Ile						p.V204I	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	610	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		204					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.610G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	3.321	-0.138673	0.06669	.	.	ENSG00000198104	ENST00000355728	T	0.37584	1.19	4.13	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.176577	0.27486	N	0.019147	T	0.14141	0.0342	N	0.04994	-0.135	0.09310	N	1	D	0.55385	0.971	B	0.42112	0.376	T	0.12656	-1.0539	10	0.35671	T	0.21	.	3.22	0.06712	0.3614:0.0:0.3584:0.2803	.	204	Q8NHC8	OR2T6_HUMAN	I	204	ENSP00000347965:V204I	ENSP00000347965:V204I	V	+	1	0	OR2T6	246618142	0.000000	0.05858	0.020000	0.16555	0.005000	0.04900	0.409000	0.21082	0.155000	0.19261	-0.148000	0.13756	GTT		0.517	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		A	248551519	G	A	248551519	3	1	143	1	0	0	0	0	1	0	0	0	11029	1145	40	1	612	1	OR2T6	1	248551519	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	20071808	248551519	699102	10	9721											
HK2	3099	broad.mit.edu	37	chr2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagtatctctaccacatgCgcctctctgatgagaccctc	9	10	6	16	1	2	2	0	2	2	1	5	3	2	2	4	0	2	1	4	0	2	2	rs567201785		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:75081444C>T	ENST00000290573.2	+	2	688	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	HK2_ENST00000409174.1_Missense_Mutation_p.R2C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	30	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R30C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488																																						uc002snd.3																			1	Substitution - Missense(1)	p.R30C(2)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(88-90)Cgc>Tgc		Homo sapiens hexokinase 2 (HK2), mRNA.							242	252	248					2																	75081444		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081444C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.88C>T	2.37:g.75081444C>T	ENSP00000290573:p.Arg30Cys						p.R30C	NM_000189	NP_000180	P52789	HXK2_HUMAN			1	2014	+			30			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.88C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772471	0.90108	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98550	-4.99;-4.99	5.13	5.13	0.70059	Hexokinase, N-terminal (1);	0.191170	0.47852	D	0.000216	D	0.98579	0.9525	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	D	0.98640	1.0675	10	0.48119	T	0.1	-13.6651	16.123	0.81375	0.0:1.0:0.0:0.0	.	30	P52789	HXK2_HUMAN	C	30;30;2	ENSP00000290573:R30C;ENSP00000387140:R2C	ENSP00000290573:R30C	R	+	1	0	HK2	74934952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.665000	0.90641	0.561000	0.74099	CGC		0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75081444	C	T	75081444	3	4	143	1	0	0	0	0	1	0	0	0	7191	768	27	1	94	1	HK2	2	75081444	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		75081444	168117929	11	9722											
PSD4	23550	broad.mit.edu	37	chr2	113955141	113955141	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttctgttcctggaacagCgccatggggcaagcgtggct	6	10	15	10	2	1	0	0	0	1	0	2	1	2	1	2	4	3	4	2	4	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:113955141C>T	ENST00000245796.6	+	13	2582	c.2387C>T	c.(2386-2388)aCg>aTg	p.T796M	PSD4_ENST00000441564.3_Splice_Site_p.T768M	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	796	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGAACAGCGCCATGGGGC	0.552																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e13-1		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.							93	76	82					2																	113955141		2203	4300	6503	SO:0001630	splice_region_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955141C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2387-1C>T	2.37:g.113955141C>T						PSD4_uc002tjd.3_Splice_Site_p.T417_splice|PSD4_uc002tje.3_Splice_Site_p.T767_splice|PSD4_uc002tjf.3_Splice_Site_p.T417_splice|PSD4_uc002tjg.3_5'UTR|PSD4_uc010yxs.2_Missense_Mutation_p.A27V|PSD4_uc002tjh.3_5'Flank	p.T796_splice	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			13	2570	+			796			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.2387_splice	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838586	0.91117	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.79554	-1.28;-1.28	4.29	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.054079	0.64402	D	0.000001	D	0.90137	0.6918	M	0.89095	3.005	0.48185	D	0.999605	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.947;0.988	D	0.91731	0.5396	10	0.87932	D	0	.	12.2513	0.54599	0.0:1.0:0.0:0.0	.	454;768;796	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	M	796;768;10	ENSP00000245796:T796M;ENSP00000413997:T768M	ENSP00000245796:T796M	T	+	2	0	PSD4	113671612	1.000000	0.71417	0.624000	0.29186	0.929000	0.56500	4.933000	0.63484	1.947000	0.56498	0.561000	0.74099	ACG		0.552	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	Missense_Mutation	T	113955141	C	T	113955141	5	4	143	1	0	0	0	0	0	0	1	0	12649	782	27	1	2433	1	PSD4	2	113955141	Splice_Site	SNP	C	TCGA-14-2554-01A-01D-1494-08	38873697	113955141	129244232	12	9723											
TMEM163	81615	broad.mit.edu	37	chr2	135215640	135215640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggtgaggccgatcagaaCgcctatgctgccgtccaggt	8	9	13	11	3	1	2	1	1	0	1	2	3	2	2	4	3	3	1	4	3	3	2	rs145243913		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:135215640C>T	ENST00000281924.6	-	7	836	c.772G>A	c.(772-774)Gtt>Att	p.V258I		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	258						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		CCGATCAGAACGCCTATGCTG	0.552																																						uc002ttx.3																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(772-774)Gtt>Att		Homo sapiens transmembrane protein 163 (TMEM163), mRNA.		C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	164	142	149		772	3.9	0.8	2	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMEM163	NM_030923.4	29	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	258/290	135215640	5,13001	2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135215640C>T		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.772G>A	2.37:g.135215640C>T	ENSP00000281924:p.Val258Ile					TMEM163_uc002tty.3_Non-coding_Transcript	p.V258I	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	6	838	-			258					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.772G>A	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781883	0.16189	9.08E-4	1.16E-4	ENSG00000152128	ENST00000281924	T	0.61158	0.13	4.79	3.92	0.45320	.	0.178102	0.49916	N	0.000133	T	0.24890	0.0604	N	0.02960	-0.455	0.35438	D	0.794637	B	0.30021	0.265	B	0.20577	0.03	T	0.30621	-0.9972	10	0.07175	T	0.84	.	9.3733	0.38268	0.0:0.8333:0.0:0.1667	.	258	Q8TC26	TM163_HUMAN	I	258	ENSP00000281924:V258I	ENSP00000281924:V258I	V	-	1	0	TMEM163	134932110	0.980000	0.34600	0.794000	0.32065	0.846000	0.48090	2.525000	0.45598	1.023000	0.39654	-0.347000	0.07816	GTT		0.552	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		T	135215640	C	T	135215640	3	4	143	1	0	0	0	0	1	0	0	0	16075	536	19	1	105	1	TMEM163	2	135215640	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	21260499	135215640	107983733	13	9724											
GALNT13	114805	broad.mit.edu	37	chr2	155102330	155102330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatttctctgcaggaaaaCggttgtctgccctatcattg	9	15	8	9	1	3	0	1	0	2	0	4	1	3	1	1	2	3	2	1	2	4	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:155102330C>T	ENST00000392825.3	+	7	1259	c.692C>T	c.(691-693)aCg>aTg	p.T231M	GALNT13_ENST00000409237.1_Missense_Mutation_p.T231M	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	231					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCAGGAAAACGGTTGTCTGC	0.323																																						uc002tyt.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(691-693)aCg>aTg		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.							117	116	116					2																	155102330		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102330C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.692C>T	2.37:g.155102330C>T	ENSP00000376570:p.Thr231Met					GALNT13_uc002tyr.4_Missense_Mutation_p.T231M|GALNT13_uc010foc.1_Missense_Mutation_p.T50M|GALNT13_uc010fod.3_5'UTR	p.T231M	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			4	796	+			231					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.692C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831413	0.71258	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59364	0.27;0.27	5.37	5.37	0.77165	Glycosyl transferase, family 2 (1);	0.048700	0.85682	D	0.000000	T	0.74253	0.3692	M	0.64404	1.975	0.53688	D	0.999979	D;P;D	0.61697	0.99;0.763;0.99	D;P;D	0.71656	0.974;0.749;0.974	T	0.75827	-0.3180	10	0.72032	D	0.01	.	18.5273	0.90976	0.0:1.0:0.0:0.0	.	231;231;231	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	M	231	ENSP00000376570:T231M;ENSP00000387239:T231M	ENSP00000376570:T231M	T	+	2	0	GALNT13	154810576	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.777000	0.62361	2.702000	0.92279	0.644000	0.83932	ACG		0.323	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		T	155102330	C	T	155102330	3	4	143	1	0	0	0	0	1	0	0	0	6211	536	19	1	710	1	GALNT13	2	155102330	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	19886690	155102330	88097043	14	9725											
TTN	7273	broad.mit.edu	37	chr2	179572434	179572434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccttcaaccactggatCctaattggctcagatccctg	9	10	7	15	0	2	1	2	0	0	1	4	2	4	2	5	2	2	1	5	2	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:179572434C>A	ENST00000591111.1	-	98	28133	c.27909G>T	c.(27907-27909)agG>agT	p.R9303S	TTN_ENST00000342992.6_Missense_Mutation_p.R8376S|TTN_ENST00000589042.1_Missense_Mutation_p.R9620S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13421	Ig-like 76.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACTGGATCCTAATTGGCT	0.498																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25126-25128)agG>agT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							103	97	99					2																	179572434		1940	4139	6079	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179572434C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27909G>T	2.37:g.179572434C>A	ENSP00000465570:p.Arg9303Ser					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5037S	p.R8376S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	25353	-			9303			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25128G>T		.	.	.	.	.	.	.	.	.	.	C	12.99	2.103218	0.37145	.	.	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.4	3.46	0.39613	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44726	0.1307	N	0.11651	0.15	0.80722	D	1	P	0.35656	0.514	B	0.39217	0.294	T	0.51513	-0.8696	9	0.87932	D	0	.	10.2436	0.43328	0.0:0.6724:0.257:0.0705	.	9303	Q8WZ42	TITIN_HUMAN	S	8376	ENSP00000343764:R8376S	ENSP00000343764:R8376S	R	-	3	2	TTN	179280679	0.998000	0.40836	1.000000	0.80357	0.851000	0.48451	0.856000	0.27818	1.386000	0.46466	0.655000	0.94253	AGG		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179572434	C	A	179572434	3	1	143	1	0	0	0	0	1	0	0	0	16732	854	30	5	75721	5	TTN	2	179572434	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	24470104	179572434	63626939	15	9726											
PDE1A	5136	broad.mit.edu	37	chr2	183094871	183094871	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattaggcaagaaacaggAatctgtggaaagtaataatt	17	10	11	3	0	1	2	0	1	1	1	1	4	1	4	0	3	1	2	0	3	7	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:183094871A>G	ENST00000410103.1	-	7	668	c.585T>C	c.(583-585)atT>atC	p.I195I	PDE1A_ENST00000331935.6_Silent_p.I195I|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000536095.1_Silent_p.I91I|PDE1A_ENST00000435564.1_Silent_p.I195I|PDE1A_ENST00000409365.1_Silent_p.I179I|PDE1A_ENST00000456212.1_Silent_p.I195I|PDE1A_ENST00000351439.5_Silent_p.I179I|PDE1A_ENST00000346717.4_Silent_p.I161I|PDE1A_ENST00000358139.2_Silent_p.I195I	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	195	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AAGAAACAGGAATCTGTGGAA	0.348																																						uc002uos.3																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(583-585)atT>atC		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.							65	67	66					2																	183094871		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183094871A>G		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.585T>C	2.37:g.183094871A>G						PDE1A_uc010zfp.1_Silent_p.I91I|PDE1A_uc002uoq.1_Silent_p.I195I|PDE1A_uc010zfq.1_Silent_p.I195I|PDE1A_uc002uor.3_Silent_p.I179I|PDE1A_uc002uou.3_Silent_p.I161I	p.I195I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		6	669	-			195			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.585T>C	CCDS33344.1																																																																																				0.348	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			G	183094871	A	G	183094871	2	3	143	1	0	0	0	0	0	0	0	1	11633	242	9	4		4	PDE1A	2	183094871	Silent	SNP	A	TCGA-14-2554-01A-01D-1494-08	3522437	183094871	60104502	16	9727											
COL6A3	1293	broad.mit.edu	37	chr2	238277593	238277593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctctgagcctcaggcGccgtatggcgtccagcaccg	5	6	11	19	4	2	1	1	1	1	0	3	1	3	1	7	2	2	2	7	2	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:238277593G>A	ENST00000295550.4	-	10	4965	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	COL6A3_ENST00000472056.1_Missense_Mutation_p.R898C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1305C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1304C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1299C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1299C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1505	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCCTCAGGCGCCGTATGGCG	0.537																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4513-4515)Cgc>Tgc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							45	46	46					2																	238277593		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277593G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4513C>T	2.37:g.238277593G>A	ENSP00000295550:p.Arg1505Cys					COL6A3_uc002vwo.2_Missense_Mutation_p.R1299C|COL6A3_uc010znj.1_Missense_Mutation_p.R898C	p.R1505C	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4798	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1505			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4513C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261187	0.23051	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.36	4.49	0.54785	von Willebrand factor, type A (3);	0.123529	0.37857	N	0.001906	D	0.89904	0.6850	M	0.91140	3.18	0.39217	D	0.963437	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.85130	0.997;0.988;0.861	D	0.92559	0.6056	10	0.72032	D	0.01	.	13.9495	0.64106	0.073:0.0:0.927:0.0	.	898;1299;1505	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	C	1505;1304;1299;898;1299;1305	ENSP00000295550:R1505C;ENSP00000315609:R1304C;ENSP00000315873:R1299C;ENSP00000418285:R898C;ENSP00000386844:R1299C;ENSP00000295546:R1305C	ENSP00000295550:R1505C	R	-	1	0	COL6A3	237942332	0.997000	0.39634	0.374000	0.26016	0.210000	0.24377	3.942000	0.56614	1.268000	0.44264	0.655000	0.94253	CGC		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238277593	G	A	238277593	3	1	143	1	0	0	0	0	1	0	0	0	3701	1087	38	1	5160	1	COL6A3	2	238277593	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	55182722	238277593	4921780	17	9728											
RBMS3	27303	broad.mit.edu	37	chr3	29985717	29985717	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattcaatcccaagacaggaTtatgatactccaccagctgt	13	10	7	11	0	1	2	1	1	0	1	3	4	3	3	3	1	2	1	3	1	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:29985717T>G	ENST00000383767.2	+	12	1406	c.1070T>G	c.(1069-1071)aTt>aGt	p.I357S	RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000434693.2_Missense_Mutation_p.I356S|RBMS3_ENST00000452462.1_Intron|RBMS3_ENST00000456853.1_Intron|RBMS3_ENST00000273139.9_Intron|RBMS3_ENST00000396583.3_Intron|RBMS3_ENST00000383766.2_Missense_Mutation_p.I339S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	357					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAAGACAGGATTATGATACTC	0.388																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1069-1071)aTt>aGt		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							110	102	105					3																	29985717		2203	4299	6502	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29985717T>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1070T>G	3.37:g.29985717T>G	ENSP00000373277:p.Ile357Ser					RBMS3_uc010hfq.3_Intron|RBMS3_uc003cek.3_Intron|RBMS3_uc010hfr.3_Intron|RBMS3_uc003cem.3_Missense_Mutation_p.I339S	p.I357S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			11	1440	+		Ovarian(412;0.0956)	357					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1070T>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.422071	0.25639	.	.	ENSG00000144642	ENST00000434693;ENST00000383767;ENST00000383766	T;T;T	0.25414	1.81;1.8;1.97	4.76	4.76	0.60689	.	0.658250	0.14590	N	0.310283	T	0.13114	0.0318	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12400	-1.0549	9	.	.	.	.	11.2415	0.48972	0.0:0.0:0.0:1.0	.	339;357	Q6XE24-3;Q6XE24	.;RBMS3_HUMAN	S	356;357;339	ENSP00000395592:I356S;ENSP00000373277:I357S;ENSP00000373276:I339S	.	I	+	2	0	RBMS3	29960721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.374000	0.52402	2.091000	0.63221	0.528000	0.53228	ATT		0.388	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		G	29985717	T	G	29985717	3	3	143	1	0	0	0	0	1	0	0	0	13150	1493	52	5	1159	5	RBMS3	3	29985717	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		29985717	168036713	18	9729											
ITIH1	3697	broad.mit.edu	37	chr3	52825916	52825916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactgattatatcgtccccGacatcttctgagccctctgg	8	12	7	14	2	3	2	0	2	3	0	5	3	4	2	3	1	1	0	3	1	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:52825916G>A	ENST00000273283.2	+	22	2749	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.D767N|ITIH3_ENST00000449956.2_5'Flank|ITIH1_ENST00000405128.3_Missense_Mutation_p.D275N|ITIH1_ENST00000537050.1_Missense_Mutation_p.D621N|ITIH3_ENST00000416872.2_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	909	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TATCGTCCCCGACATCTTCTG	0.607																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2725-2727)Gac>Aac		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.							120	108	112					3																	52825916		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52825916G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2725G>A	3.37:g.52825916G>A	ENSP00000273283:p.Asp909Asn					ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D767N|ITIH1_uc021wzg.1_Missense_Mutation_p.D621N|ITIH1_uc021wzh.1_Missense_Mutation_p.D621N|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	p.D909N	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	21	2755	+			909			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2725G>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747751	0.15710	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11712	4.91;4.77;4.61;4.05;2.75	5.66	2.45	0.29901	.	0.441469	0.25135	N	0.032878	T	0.06050	0.0157	L	0.31294	0.92	0.09310	N	0.999995	B;B;B	0.24651	0.011;0.108;0.108	B;B;B	0.15870	0.009;0.014;0.014	T	0.41142	-0.9525	10	0.08599	T	0.76	-15.6363	7.3512	0.26691	0.382:0.0:0.618:0.0	.	767;275;909	F5H165;B5MCP1;P19827	.;.;ITIH1_HUMAN	N	909;767;621;462;275	ENSP00000273283:D909N;ENSP00000443973:D767N;ENSP00000443847:D621N;ENSP00000395836:D462N;ENSP00000384589:D275N	ENSP00000273283:D909N	D	+	1	0	ITIH1	52800956	0.740000	0.28207	0.212000	0.23672	0.364000	0.29643	2.053000	0.41326	0.752000	0.32923	0.591000	0.81541	GAC		0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		A	52825916	G	A	52825916	3	1	143	1	0	0	0	0	1	0	0	0	7903	1058	37	2	2811	2	ITIH1	3	52825916	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	22840199	52825916	145196514	19	9730											
MAN2B2	23324	broad.mit.edu	37	chr4	6594914	6594914	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtcaggattttactGgaatggcgtggctgtcttcc	7	12	13	9	1	2	0	1	0	1	0	3	2	3	2	1	5	1	2	1	5	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:6594914G>A	ENST00000285599.3	+	6	731	c.695G>A	c.(694-696)tGg>tAg	p.W232*	MAN2B2_ENST00000504248.1_Nonsense_Mutation_p.W232*	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	232					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGATTTTACTGGAATGGCGTG	0.582																																						uc003gjf.1																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(694-696)tGg>tAg		Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.							125	109	114					4																	6594914		2203	4300	6503	SO:0001587	stop_gained	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6594914G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.695G>A	4.37:g.6594914G>A	ENSP00000285599:p.Trp232*					MAN2B2_uc003gje.1_Nonsense_Mutation_p.W232*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.W232*	p.W232*	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			5	731	+			232					Q66MP2|Q86T67	Nonsense_Mutation	SNP	ENST00000285599.3	37	c.695G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.002103|6.002103	0.97189|0.97189	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|.	.|.	.|.	4.58|4.58	3.73|3.73	0.42828|0.42828	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.27205|.	0.0667|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30060|.	-0.9991|.	3|.	.|0.02654	.|T	.|1	-20.4777|-20.4777	11.8276|11.8276	0.52275|0.52275	0.0871:0.0:0.9129:0.0|0.0871:0.0:0.9129:0.0	.|.	.|.	.|.	.|.	R|X	231|232	.|.	.|ENSP00000285599:W232X	G|W	+|+	1|2	0|0	MAN2B2|MAN2B2	6645815|6645815	1.000000|1.000000	0.71417|0.71417	0.874000|0.874000	0.34290|0.34290	0.873000|0.873000	0.50193|0.50193	6.410000|6.410000	0.73294|0.73294	0.906000|0.906000	0.36621|0.36621	0.549000|0.549000	0.68633|0.68633	GGA|TGG		0.582	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6594914	G	A	6594914	4	1	143	1	0	0	0	0	0	1	0	0	9217	1357	47	3	717	3	MAN2B2	4	6594914	Nonsense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		6594914	184559362	20	9731											
OCIAD1	54940	broad.mit.edu	37	chr4	48853837	48853837	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacaggcactattatcaaaAgtcaaaatatgactcaagtg	17	11	6	7	0	3	1	3	1	0	0	3	1	3	1	0	1	1	1	0	1	9	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:48853837A>C	ENST00000381473.3	+	7	810	c.392A>C	c.(391-393)aAg>aCg	p.K131T	OCIAD1_ENST00000513391.2_Missense_Mutation_p.K131T|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000425583.2_Missense_Mutation_p.K131T|OCIAD1_ENST00000509122.1_Missense_Mutation_p.K104T|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000264312.7_Missense_Mutation_p.K131T|OCIAD1_ENST00000508293.1_Missense_Mutation_p.K131T|OCIAD1_ENST00000396448.2_Missense_Mutation_p.K131T|OCIAD1_ENST00000444354.2_Missense_Mutation_p.K131T|OCIAD1_ENST00000506801.1_Missense_Mutation_p.K77T	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	131						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TATTATCAAAAGTCAAAATAT	0.333																																						uc010igk.3																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(406-408)aAg>aCg		Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.							86	82	84					4																	48853837		2203	4300	6503	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48853837A>C	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.392A>C	4.37:g.48853837A>C	ENSP00000370882:p.Lys131Thr					OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyq.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyp.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyr.3_Missense_Mutation_p.K131T|OCIAD1_uc021xoc.1_Missense_Mutation_p.K131T	p.K136T	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN			6	623	+			131					C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.407A>C	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621286	0.14193	.	.	ENSG00000109180	ENST00000509122;ENST00000505922;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T	0.50548	0.88;0.76;0.74;0.74;0.88;0.77;0.77;0.88;0.88	5.55	3.15	0.36227	.	0.533866	0.20942	N	0.082912	T	0.31979	0.0814	L	0.35723	1.085	0.29986	N	0.817302	B;B;B;B	0.30361	0.181;0.096;0.277;0.011	B;B;B;B	0.27380	0.042;0.049;0.079;0.005	T	0.21280	-1.0250	10	0.19147	T	0.46	-7.3977	7.6986	0.28608	0.8319:0.0:0.1681:0.0	.	104;131;131;131	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	T	104;104;131;131;131;131;131;131;77;77;77;77;131;131;131	ENSP00000264312:K131T;ENSP00000379725:K131T;ENSP00000426386:K131T;ENSP00000427389:K131T;ENSP00000370882:K131T;ENSP00000399656:K131T;ENSP00000416943:K131T;ENSP00000423002:K131T;ENSP00000423909:K131T	ENSP00000264312:K131T	K	+	2	0	OCIAD1	48548594	0.998000	0.40836	0.979000	0.43373	0.319000	0.28217	1.773000	0.38563	0.417000	0.25871	0.477000	0.44152	AAG		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		C	48853837	A	C	48853837	3	2	143	1	0	0	0	0	1	0	0	0	10817	72	3	5	433	5	OCIAD1	4	48853837	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	42258923	48853837	142300439	21	9732											
C4orf35	85438	broad.mit.edu	37	chr4	71201726	71201726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatccagatatgacttcGttgtccctgcatcaatagct	10	14	7	10	1	1	3	1	2	0	1	4	3	3	3	2	0	2	3	2	0	4	5	rs139939232		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:71201726G>A	ENST00000273936.5	+	1	1044	c.970G>A	c.(970-972)Gtt>Att	p.V324I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	324					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATATGACTTCGTTGTCCCTGC	0.413													G|||	1	0.000199681	0	0	5008	,	,		21759	0		0	False		,,,				2504	0.001					uc003hff.3																			0		p.V324V(2)|p.F323F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(970-972)Gtt>Att		Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	108	98	102		970	-4.8	0	4	dbSNP_134	102	0,8600		0,0,4300	no	missense	CABS1	NM_033122.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	324/396	71201726	1,13005	2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201726G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.970G>A	4.37:g.71201726G>A	ENSP00000273936:p.Val324Ile					CABS1_uc021xoz.1_Missense_Mutation_p.V324I	p.V324I	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			0	1056	+			324					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.970G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	4.865	0.160864	0.09287	2.27E-4	0.0	ENSG00000145309	ENST00000273936	T	0.23754	1.89	4.13	-4.75	0.03239	.	1.151220	0.06701	N	0.771370	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.34279	-0.9835	10	0.20046	T	0.44	-7.7287	7.1157	0.25414	0.6139:0.0:0.2572:0.1289	.	324	Q96KC9	CABS1_HUMAN	I	324	ENSP00000273936:V324I	ENSP00000273936:V324I	V	+	1	0	CABS1	71236315	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.330000	0.07925	-1.286000	0.02384	-0.793000	0.03317	GTT		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		A	71201726	G	A	71201726	3	1	143	1	0	0	0	0	1	0	0	0	2265	1145	40	1	972	1	C4orf35	4	71201726	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	22347889	71201726	119952550	22	9733											
ENAM	10117	broad.mit.edu	37	chr4	71507774	71507774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatcatggctttgggggtCgccctccttattattcagaa	8	14	10	9	1	2	1	2	0	0	1	4	2	3	1	2	3	0	1	2	3	4	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:71507774C>T	ENST00000396073.3	+	9	912	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	211					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTGGGGGTCGCCCTCCTTA	0.398																																						uc011caw.1																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(631-633)Cgc>Tgc		Homo sapiens enamelin (ENAM), mRNA.							132	146	141					4																	71507774		2199	4300	6499	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507774C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.631C>T	4.37:g.71507774C>T	ENSP00000379383:p.Arg211Cys						p.R211C	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	912	+			211					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.631C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250152	0.59212	.	.	ENSG00000132464	ENST00000396073	T	0.70749	-0.51	5.89	3.09	0.35607	.	0.221096	0.32687	N	0.005775	T	0.68329	0.2989	M	0.84433	2.695	0.39345	D	0.965641	B	0.31100	0.308	B	0.26202	0.067	T	0.69855	-0.5032	10	0.87932	D	0	-5.9093	6.5452	0.22402	0.3187:0.5992:0.0:0.0821	.	211	Q9NRM1	ENAM_HUMAN	C	211	ENSP00000379383:R211C	ENSP00000379383:R211C	R	+	1	0	ENAM	71726638	0.808000	0.29022	0.971000	0.41717	0.819000	0.46315	1.532000	0.36029	0.850000	0.35239	-0.156000	0.13503	CGC		0.398	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71507774	C	T	71507774	3	4	143	1	0	0	0	0	1	0	0	0	5112	884	31	2	661	2	ENAM	4	71507774	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	306048	71507774	119646502	23	9734											
AFP	174	broad.mit.edu	37	chr4	74310789	74310789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctggatgtggcccatGtacatgagcactgttgcaga	9	11	12	9	0	0	2	0	1	0	1	1	3	1	3	2	2	3	4	2	2	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:74310789G>T	ENST00000395792.2	+	7	893	c.793G>T	c.(793-795)Gta>Tta	p.V265L	AFP_ENST00000226359.2_Missense_Mutation_p.V265L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	265	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGGCCCATGTACATGAGCA	0.388									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(793-795)Gta>Tta		Homo sapiens alpha-fetoprotein (AFP), mRNA.							115	110	112					4																	74310789		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74310789G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.793G>T	4.37:g.74310789G>T	ENSP00000379138:p.Val265Leu					AFP_uc011cbg.1_Missense_Mutation_p.V39L	p.V265L	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	840	+	Breast(15;0.00102)		265			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.793G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324120	0.05350	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.71934	-0.61;-0.61	5.43	-9.99	0.00435	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.845950	0.02165	N	0.059169	T	0.48714	0.1515	N	0.11560	0.145	0.09310	N	1	B;B	0.19445	0.026;0.036	B;B	0.30105	0.111;0.055	T	0.49504	-0.8933	10	0.66056	D	0.02	.	6.3482	0.21361	0.2611:0.1034:0.5337:0.1017	.	107;265	B4DMX4;P02771	.;FETA_HUMAN	L	265	ENSP00000379138:V265L;ENSP00000226359:V265L	ENSP00000226359:V265L	V	+	1	0	AFP	74529653	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.768000	0.04715	-1.710000	0.01397	-0.145000	0.13849	GTA		0.388	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			T	74310789	G	T	74310789	3	4	143	1	0	0	0	0	1	0	0	0	363	1377	48	5	819	5	AFP	4	74310789	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2803015	74310789	116843487	24	9735											
IRF2	3660	broad.mit.edu	37	chr4	185310216	185310216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttccgccagtgtggcCgcccctttcaagaaagtaat	8	11	8	14	2	2	1	1	0	1	1	4	1	4	1	6	1	0	1	6	1	3	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:185310216C>T	ENST00000393593.3	-	9	953	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	249					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCAGTGTGGCCGCCCCTTTCA	0.502																																						uc003iwf.4																			0		p.G248G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(745-747)cGg>cAg		Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.							141	119	127					4																	185310216		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310216C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.746G>A	4.37:g.185310216C>T	ENSP00000377218:p.Arg249Gln						p.R249Q	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	8	946	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	249					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.746G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285880	0.40394	.	.	ENSG00000168310	ENST00000393593;ENST00000502750	T;T	0.81415	-1.49;-1.49	5.31	5.31	0.75309	.	0.344059	0.27871	N	0.017502	T	0.66684	0.2814	L	0.36672	1.1	0.30867	N	0.732834	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.05525	T	0.97	-12.301	9.7261	0.40333	0.0:0.8485:0.0:0.1515	.	249	P14316	IRF2_HUMAN	Q	249;106	ENSP00000377218:R249Q;ENSP00000423074:R106Q	ENSP00000377218:R249Q	R	-	2	0	IRF2	185547210	0.867000	0.29959	0.955000	0.39395	0.902000	0.53008	1.900000	0.39828	2.769000	0.95229	0.555000	0.69702	CGG		0.502	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			T	185310216	C	T	185310216	3	4	143	1	0	0	0	0	1	0	0	0	7828	652	23	2	307	2	IRF2	4	185310216	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	110999427	185310216	5844060	25	9736											
RAD50	10111	broad.mit.edu	37	chr5	131927096	131927096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgctgaccaaagacAaagtatgatttttctttttg	12	15	9	5	0	1	4	0	2	1	2	1	5	1	4	1	1	1	2	1	1	3	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr5:131927096A>G	ENST00000265335.6	+	10	2020	c.1633A>G	c.(1633-1635)Aaa>Gaa	p.K545E	RAD50_ENST00000378823.3_Missense_Mutation_p.K406E			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	545					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCAAAGACAAAGTATGATT	0.378								Homologous recombination																														uc003kxi.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1633-1635)Aaa>Gaa	Homologous recombination	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.							87	78	81					5																	131927096		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131927096A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1633A>G	5.37:g.131927096A>G	ENSP00000265335:p.Lys545Glu					RAD50_uc003kxh.3_Missense_Mutation_p.K406E	p.K545E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	2034	+		all_cancers(142;0.0368)|Breast(839;0.198)	545					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1633A>G	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.9|28.9	4.959860|4.959860	0.92791|0.92791	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000434288	T;T|.	0.05139|.	3.49;3.72|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74535|0.74535	0.3729|0.3729	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.55667|.	0.781|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|5	0.25106|.	T|.	0.35|.	-28.6629|-28.6629	16.4484|16.4484	0.83959|0.83959	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	545|.	Q92878|.	RAD50_HUMAN|.	E|R	406;545|43	ENSP00000368100:K406E;ENSP00000265335:K545E|.	ENSP00000265335:K545E|.	K|Q	+|+	1|2	0|0	RAD50|RAD50	131954995|131954995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.730000|8.730000	0.91510|0.91510	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		G	131927096	A	G	131927096	3	3	143	1	0	0	0	0	1	0	0	0	12984	131	5	4	1671	4	RAD50	5	131927096	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		131927096	48988164	26	9737											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726546	25726546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttttgttatcgcgagaCgcattgcctgccagctcaag	7	14	10	10	3	1	1	1	0	0	1	2	2	1	1	2	0	3	4	2	0	2	5	rs187505332		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:25726546C>T	ENST00000297012.3	-	1	244	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	70						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A70A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TATCGCGAGACGCATTGCCTG	0.522																																						uc003nfc.3																			1	Substitution - coding silent(1)	p.A70A(2)|p.A70E(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(208-210)gcG>gcA		Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.							301	238	259					6																	25726546		2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726546C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.210G>A	6.37:g.25726546C>T						HIST1H2BA_uc003nfd.3_5'Flank	p.A70A	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			0	245	-			70						Silent	SNP	ENST00000297012.3	37	c.210G>A	CCDS4562.1																																																																																				0.522	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		T	25726546	C	T	25726546	2	4	143	1	0	0	0	0	0	0	0	1	7128	523	19	1		1	HIST1H2AA	6	25726546	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		25726546	145388521	27	9738											
C2	717	broad.mit.edu	37	chr6	31901972	31901972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgtaaaatccaaatccagCgctctggtcatctgaacctc	11	9	7	14	2	3	1	1	1	2	0	6	1	5	1	4	1	2	2	4	1	4	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:31901972C>T	ENST00000299367.5	+	6	1021	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R117C|CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R249C|C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	249				R -> S (in Ref. 9; AA sequence). {ECO:0000305}.	complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCAAATCCAGCGCTCTGGTCA	0.547																																						uc003nyf.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(745-747)Cgc>Tgc		Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.							123	126	125					6																	31901972		2203	4300	6503	SO:0001583	missense	717				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901972C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.745C>T	6.37:g.31901972C>T	ENSP00000299367:p.Arg249Cys					CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R249C|CFB_uc010jtk.3_Missense_Mutation_p.R117C|CFB_uc011doq.2_Missense_Mutation_p.R220C|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	p.R249C	NM_000063	NP_000054	P00751	CFAB_HUMAN			5	1009	+			265					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.745C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261253	0.80246	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.46	4.55	0.56014	.	0.000000	0.39687	N	0.001295	D	0.84520	0.5490	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.77557	0.99;0.976;0.863;0.945	D	0.85570	0.1233	9	0.72032	D	0.01	-23.9683	12.0857	0.53695	0.1714:0.8286:0.0:0.0	.	220;117;249;249	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	C	126;249;117;187;249;108	ENSP00000406121:R126C;ENSP00000299367:R249C;ENSP00000395683:R117C;ENSP00000391354:R187C;ENSP00000406190:R249C;ENSP00000419048:R108C	ENSP00000299367:R249C	R	+	1	0	C2	32009951	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.324000	0.33712	2.726000	0.93360	0.655000	0.94253	CGC		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			T	31901972	C	T	31901972	3	4	143	1	0	0	0	0	1	0	0	0	2074	768	27	1	844	1	C2	6	31901972	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	6175426	31901972	139213095	28	9739											
PPP2R5D	5528	broad.mit.edu	37	chr6	42976451	42976451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcatactgtgtggtacaAttcctggagaaggagagcag	11	9	14	7	0	0	2	0	0	0	2	1	4	1	2	1	4	3	3	1	4	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:42976451A>G	ENST00000485511.1	+	10	1226	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	PPP2R5D_ENST00000394110.3_Silent_p.Q317Q|PPP2R5D_ENST00000472118.1_Silent_p.Q341Q|PPP2R5D_ENST00000461010.1_Silent_p.Q243Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	349					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGTGGTACAATTCCTGGAGA	0.527																																					Melanoma(63;587 1613 29742 31770)	uc003oth.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(1045-1047)caA>caG		Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.							80	72	75					6																	42976451		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42976451A>G	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1047A>G	6.37:g.42976451A>G						MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Silent_p.Q243Q|PPP2R5D_uc011dva.2_Silent_p.Q198Q|PPP2R5D_uc003oti.3_Silent_p.Q198Q|PPP2R5D_uc021yzq.1_Silent_p.Q317Q|PPP2R5D_uc003otj.3_Intron	p.Q349Q	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	1133	+			349					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.1047A>G	CCDS4878.1																																																																																				0.527	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		G	42976451	A	G	42976451	2	3	143	1	0	0	0	0	0	0	0	1	12395	98	4	4		4	PPP2R5D	6	42976451	Silent	SNP	A	TCGA-14-2554-01A-01D-1494-08	11074479	42976451	128138616	29	9740											
SUPT3H	8464	broad.mit.edu	37	chr6	44988338	44988338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgattacccttgctcccCgcagctgagaaacttcagca	10	9	9	13	1	1	2	1	2	0	1	2	4	2	2	3	0	5	4	3	0	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:44988338C>T	ENST00000371459.1	-	4	383	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SUPT3H_ENST00000371461.2_Missense_Mutation_p.R84Q|SUPT3H_ENST00000306867.5_Missense_Mutation_p.R73Q|SUPT3H_ENST00000371460.1_Missense_Mutation_p.R84Q	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	155					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.R73L(1)|p.R84L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CCTTGCTCCCCGCAGCTGAGA	0.318																																						uc003oxp.3																			2	Substitution - Missense(2)	p.R73L(1)|p.R84L(1)	lung(2)	breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(217-219)cGg>cAg		Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.							50	52	51					6																	44988338		2203	4298	6501	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44988338C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.218G>A	6.37:g.44988338C>T	ENSP00000360514:p.Arg73Gln					SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc003oxo.3_Missense_Mutation_p.R84Q|SUPT3H_uc011dvv.2_5'UTR|SUPT3H_uc011dvw.2_5'UTR	p.R73Q	NM_003599	NP_003590	O75486	SUPT3_HUMAN			3	384	-			155					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.218G>A	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715149	0.68844	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.61392	0.11;0.42;0.42;0.11	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	M	0.79475	2.455	0.52501	D	0.999951	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.986	T	0.73792	-0.3871	10	0.56958	D	0.05	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	84;155	O75486-3;O75486	.;SUPT3_HUMAN	Q	84;73;73;84	ENSP00000360515:R84Q;ENSP00000360514:R73Q;ENSP00000306718:R73Q;ENSP00000360516:R84Q	ENSP00000306718:R73Q	R	-	2	0	SUPT3H	45096316	0.971000	0.33674	0.933000	0.37362	0.859000	0.49053	5.360000	0.66086	2.941000	0.99782	0.655000	0.94253	CGG		0.318	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		T	44988338	C	T	44988338	3	4	143	1	0	0	0	0	1	0	0	0	15394	652	23	2	767	2	SUPT3H	6	44988338	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	2011887	44988338	126126729	30	9741											
STXBP5	134957	broad.mit.edu	37	chr6	147631323	147631323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgctgtgctagaaatgGactattcaattgttgatttt	10	16	9	6	0	1	2	1	1	0	1	1	3	1	3	0	1	2	4	0	1	4	7			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:147631323G>T	ENST00000321680.6	+	10	1021	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	STXBP5_ENST00000367481.3_Missense_Mutation_p.D341Y|STXBP5_ENST00000367480.3_Missense_Mutation_p.D341Y|STXBP5_ENST00000179882.6_Missense_Mutation_p.D12Y	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	341					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCTAGAAATGGACTATTCAAT	0.368																																						uc003qlz.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1021-1023)Gac>Tac		Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.							120	122	121					6																	147631323		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147631323G>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1021G>T	6.37:g.147631323G>T	ENSP00000321826:p.Asp341Tyr					STXBP5_uc010khz.2_Missense_Mutation_p.D341Y|STXBP5_uc003qly.3_Missense_Mutation_p.D12Y	p.D341Y	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	9	1196	+		Ovarian(120;0.0164)	341					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1021G>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938279	0.92526	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.14022	2.55;2.54;2.66;3.12	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.91635	0.999;0.997;0.913	T	0.01648	-1.1304	10	0.87932	D	0	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	341;341;12	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	Y	341;341;341;12	ENSP00000356451:D341Y;ENSP00000321826:D341Y;ENSP00000356450:D341Y;ENSP00000179882:D12Y	ENSP00000179882:D12Y	D	+	1	0	STXBP5	147673016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.820000	0.97059	0.650000	0.86243	GAC		0.368	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			T	147631323	G	T	147631323	3	4	143	1	0	0	0	0	1	0	0	0	15355	1174	41	5	1059	5	STXBP5	6	147631323	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	102642985	147631323	23483744	31	9742											
CDK13	8621	broad.mit.edu	37	chr7	40039057	40039057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcggaattattggagaaGgtacttacggacaagtttac	13	12	10	6	2	1	1	1	0	0	1	2	4	1	3	0	4	3	2	0	4	7	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:40039057G>A	ENST00000181839.4	+	4	2745	c.2140G>A	c.(2140-2142)Ggt>Agt	p.G714S	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.G714S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATTGGAGAAGGTACTTACGG	0.413																																						uc003thh.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2140-2142)Ggt>Agt		Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.							115	116	115					7																	40039057		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40039057G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2140G>A	7.37:g.40039057G>A	ENSP00000181839:p.Gly714Ser					CDK13_uc003thi.4_Missense_Mutation_p.G714S|CDK13_uc011kbf.2_Missense_Mutation_p.G100S	p.G714S	NM_003718	NP_003709	Q14004	CDK13_HUMAN			3	2422	+			714			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2140G>A	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566683	0.96540	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	D;D	0.96334	-3.98;-3.98	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98960	0.9646	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99312	1.0904	8	.	.	.	-11.2883	19.5122	0.95146	0.0:0.0:1.0:0.0	.	100;714;714	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	S	714	ENSP00000181839:G714S;ENSP00000340557:G714S	.	G	+	1	0	CDK13	40005582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.612000	0.88384	0.643000	0.83706	GGT		0.413	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		A	40039057	G	A	40039057	3	1	143	1	0	0	0	0	1	0	0	0	3129	1000	35	3	2154	3	CDK13	7	40039057	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		40039057	119099606	32	9743											
POM121L12	285877	broad.mit.edu	37	chr7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggacttctgggaggCgacaacgccttcctgcggca	7	8	13	13	3	2	0	0	0	2	0	3	3	3	2	2	4	2	1	2	4	1	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:53104173C>T	ENST00000408890.4	+	1	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	270								p.A270V(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632																																						uc003tpz.3																			2	Substitution - Missense(2)	p.A270V(4)	large_intestine(1)|endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(808-810)gCg>gTg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							49	55	53					7																	53104173		2017	4179	6196	SO:0001583	missense	285877							g.chr7:53104173C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.809C>T	7.37:g.53104173C>T	ENSP00000386133:p.Ala270Val						p.A270V	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	825	+			270					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.809C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807834	0.16467	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	2.16	-4.31	0.03698	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.20240	-1.0281	9	0.54805	T	0.06	.	0.7833	0.01044	0.2064:0.3456:0.1383:0.3097	.	270	Q8N7R1	P1L12_HUMAN	V	270	ENSP00000386133:A270V	ENSP00000386133:A270V	A	+	2	0	POM121L12	53071667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.654000	0.05354	-1.936000	0.01048	-1.243000	0.01532	GCG		0.632	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53104173	C	T	53104173	3	4	143	1	0	0	0	0	1	0	0	0	12241	768	27	1	811	1	POM121L12	7	53104173	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	13065116	53104173	106034490	33	9744											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	143	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2128870	55233043	103905620	34	9745											
CYP3A4	1576	broad.mit.edu	37	chr7	99366124	99366124	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgtaggccccaaagaCgctgagtggagaaagatgtg	12	7	14	8	1	0	4	0	1	0	3	0	5	0	4	2	2	1	3	2	2	3	1	rs547453529		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:99366124C>T	ENST00000336411.2	-	7	706	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	CYP3A4_ENST00000354593.2_Splice_Site_p.V25I|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	175					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GCCCCAAAGACGCTGAGTGGA	0.448													C|||	1	0.000199681	0	0	5008	,	,		19632	0		0.001	False		,,,				2504	0					uc003urv.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.e7-1		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						132	119	123					7																	99366124		2203	4300	6503	SO:0001630	splice_region_variant	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99366124C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.522-1G>A	7.37:g.99366124C>T						CYP3A4_uc003urw.2_Splice_Site_p.D174_splice|CYP3A4_uc011kiz.2_Splice_Site_p.D133_splice	p.D174_splice	NM_017460	NP_059488	P08684	CP3A4_HUMAN			7	629	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		174		D -> H (in allele CYP3A4*10).			P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.522_splice	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	3.018	-0.202475	0.06219	.	.	ENSG00000160868	ENST00000354593;ENST00000336411;ENST00000544160	T;T	0.67698	3.58;-0.28	4.32	-8.64	0.00874	.	0.896444	0.09671	N	0.771088	T	0.27278	0.0669	N	0.03930	-0.32	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.002	T	0.32188	-0.9916	10	0.02654	T	1	.	4.6888	0.12771	0.3416:0.3714:0.0:0.2871	.	25;102;175;175;175	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	I	25;175;31	ENSP00000346607:V25I;ENSP00000337915:V175I	ENSP00000337915:V175I	V	-	1	0	CYP3A4	99204060	0.000000	0.05858	0.002000	0.10522	0.470000	0.32858	-1.609000	0.02066	-1.896000	0.01102	-0.678000	0.03780	GTC		0.448	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1		Missense_Mutation	T	99366124	C	T	99366124	5	4	143	1	0	0	0	0	0	0	1	0	4178	550	19	1	1016	1	CYP3A4	7	99366124	Splice_Site	SNP	C	TCGA-14-2554-01A-01D-1494-08	44133081	99366124	59772539	35	9746											
SH2B2	10603	broad.mit.edu	37	chr7	101943880	101943880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgccccggtcccaGtcccggtcccggtcccggac	3	4	12	22	6	0	0	0	0	0	0	4	1	4	1	8	4	1	1	8	4	0	0	rs535281921	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:101943880G>A	ENST00000536178.1	+	2	220	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	SH2B2_ENST00000306803.8_Missense_Mutation_p.V16I			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	0					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						cccggtcccagtcccggtccc	0.706																																						uc011kko.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(175-177)Gtc>Atc		Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.							17	18	18					7																	101943880		1692	3744	5436	SO:0001583	missense	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101943880G>A	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	17381	protein-coding gene	gene with protein product	"adaptor protein with pleckstrin homology and src"	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.175G>A	7.37:g.101943880G>A	ENSP00000440273:p.Val59Ile						p.V59I	NM_020979	NP_066189	O14492	SH2B2_HUMAN			1	220	+			16					A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37	c.175G>A		.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775454	0.02951	.	.	ENSG00000160999	ENST00000536178;ENST00000444095;ENST00000306803	T;T;T	0.45276	0.9;1.53;1.35	.	.	.	.	1.153510	0.06318	N	0.703948	T	0.29850	0.0746	L	0.34521	1.04	0.19775	N	0.999959	B	0.30068	0.267	B	0.28991	0.097	T	0.32188	-0.9916	7	0.32370	T	0.25	-3.921	.	.	.	.	16	O14492	SH2B2_HUMAN	I	59;16;16	ENSP00000440273:V59I;ENSP00000401883:V16I;ENSP00000304701:V16I	ENSP00000304701:V16I	V	+	1	0	SH2B2	101730600	0.668000	0.27493	0.076000	0.20297	0.672000	0.39443	1.076000	0.30729	0.161000	0.19458	0.164000	0.16699	GTC		0.706	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		A	101943880	G	A	101943880	3	1	143	1	0	0	0	0	1	0	0	0	14228	1029	36	3	181	3	SH2B2	7	101943880	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2577756	101943880	57194783	36	9747											
C7orf66	154907	broad.mit.edu	37	chr7	108524569	108524569	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgagaaagaccatcactGggtgtcatcacagccatcat	13	9	9	10	0	4	2	4	1	0	2	4	3	4	2	2	1	1	1	2	1	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:108524569G>T	ENST00000379007.2	-	1	75	c.21C>A	c.(19-21)ccC>ccA	p.P7P		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	7						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GACCATCACTGGGTGTCATCA	0.413																																						uc003vfo.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(19-21)ccC>ccA		Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.							159	126	137					7																	108524569		2203	4300	6503	SO:0001819	synonymous_variant	154907					integral to membrane		g.chr7:108524569G>T	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.21C>A	7.37:g.108524569G>T							p.P7P	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			0	69	-			7						Silent	SNP	ENST00000379007.2	37	c.21C>A	CCDS34735.1																																																																																				0.413	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		T	108524569	G	T	108524569	2	4	143	1	0	0	0	0	0	0	0	1	2412	1335	47	5		5	C7orf66	7	108524569	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	6580689	108524569	50614094	37	9748											
ABP1	26	broad.mit.edu	37	chr7	150554147	150554147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggcttctggccagCgccgcagttggcttatcata	5	11	15	10	2	2	0	1	0	1	0	2	0	2	0	2	5	1	4	2	5	2	4	rs370771602	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:150554147C>T	ENST00000493429.1	+	4	1173	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	AOC1_ENST00000467291.1_Missense_Mutation_p.R197C|AOC1_ENST00000360937.4_Missense_Mutation_p.R197C|AOC1_ENST00000416793.2_Missense_Mutation_p.R197C			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	197					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TTCTGGCCAGCGCCGCAGTTG	0.577													C|||	2	0.000399361	0	0	5008	,	,		17689	0		0	False		,,,				2504	0.002					uc003why.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(589-591)Cgc>Tgc		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)	C	CYS/ARG	0,3908		0,0,1954	57	61	60		589	5.6	1	7		60	1,8285		0,1,4142	no	missense	ABP1	NM_001091.2	180	0,1,6096	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	197/752	150554147	1,12193	1954	4143	6097	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554147C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.589C>T	7.37:g.150554147C>T	ENSP00000418614:p.Arg197Cys					ABP1_uc003whz.1_Missense_Mutation_p.R197C|ABP1_uc003wia.1_Missense_Mutation_p.R197C	p.R197C	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	4807	+	all_neural(206;0.219)		197					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.589C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766268	0.69878	0.0	1.21E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.55	5.55	0.83447	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.156479	0.56097	D	0.000034	D	0.89966	0.6868	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91433	0.5167	10	0.72032	D	0.01	-2.798	16.9905	0.86352	0.0:1.0:0.0:0.0	.	197;197	C9J690;P19801	.;ABP1_HUMAN	C	197;197;197;197;197;73;197	ENSP00000418614:R197C;ENSP00000418328:R197C;ENSP00000418557:R197C;ENSP00000354193:R197C;ENSP00000411613:R197C;ENSP00000417392:R197C	ENSP00000354193:R197C	R	+	1	0	ABP1	150185080	1.000000	0.71417	0.996000	0.52242	0.729000	0.41735	4.569000	0.60865	2.610000	0.88304	0.655000	0.94253	CGC		0.577	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150554147	C	T	150554147	3	4	143	1	0	0	0	0	1	0	0	0	98	768	27	1	591	1	ABP1	7	150554147	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	42029578	150554147	8584516	38	9749											
TM7SF4	81501	broad.mit.edu	37	chr8	105361359	105361359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgacagcaaaggggaagtCctgagcgtcttgtaccagat	13	8	12	8	1	1	3	0	2	1	1	2	4	2	4	2	2	3	2	2	2	4	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr8:105361359C>T	ENST00000297581.2	+	2	628	c.579C>T	c.(577-579)gtC>gtT	p.V193V	DCSTAMP_ENST00000517991.1_Silent_p.V193V|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	193					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAGGGGAAGTCCTGAGCGTCT	0.527																																						uc003ylx.1																			0											c.(577-579)gtC>gtT		Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.							105	97	99					8																	105361359		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361359C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.579C>T	8.37:g.105361359C>T							p.V193V	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN			1	628	+			193					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.579C>T	CCDS6301.1																																																																																				0.527	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		T	105361359	C	T	105361359	2	4	143	1	0	0	0	0	0	0	0	1	15973	842	30	3		3	TM7SF4	8	105361359	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		105361359	41002663	39	9750											
MAPK15	225689	broad.mit.edu	37	chr8	144801639	144801639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggagaccatcccaccGccatctgaggagggtgagcc	9	6	12	14	1	1	3	0	2	1	1	3	5	3	4	6	3	1	0	6	3	0	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr8:144801639G>A	ENST00000338033.4	+	7	827	c.708G>A	c.(706-708)ccG>ccA	p.P236P	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Silent_p.P236P|MAPK15_ENST00000395107.4_Silent_p.P253P	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCATCCCACCGCCATCTGAGG	0.662																																						uc003yzj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(706-708)ccG>ccA		Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.							35	34	35					8																	144801639		2203	4299	6502	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801639G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.708G>A	8.37:g.144801639G>A							p.P236P	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		6	749	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236			Protein kinase.		Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.708G>A	CCDS6409.2																																																																																				0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		A	144801639	G	A	144801639	2	1	143	1	0	0	0	0	0	0	0	1	9277	1074	38	1		1	MAPK15	8	144801639	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	39440280	144801639	1562383	40	9751											
ELAVL2	1993	broad.mit.edu	37	chr9	23701591	23701591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcgaataaaccctacacCccttgatatgcctatggtag	14	10	6	11	1	0	1	0	1	0	0	1	2	0	1	4	1	3	1	4	1	8	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:23701591C>A	ENST00000397312.2	-	5	773	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.G167C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G167C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G196C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G167C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	167	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AACCCTACACCCCTTGATATG	0.443																																						uc003zpu.3																			0		p.G167D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(499-501)Ggt>Tgt		Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.							128	130	130					9																	23701591		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701591C>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.499G>T	9.37:g.23701591C>A	ENSP00000380479:p.Gly167Cys					ELAVL2_uc003zps.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpt.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpv.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpw.3_Missense_Mutation_p.G167C	p.G167C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	774	-			167			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.499G>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753579	0.89753	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.61627	0.09;2.43;2.43;2.43;0.09;1.66	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79465	-0.1792	10	0.59425	D	0.04	.	20.3241	0.98686	0.0:1.0:0.0:0.0	.	167;167	Q12926;Q12926-2	ELAV2_HUMAN;.	C	167;167;167;167;167;195;32;167	ENSP00000223951:G167C;ENSP00000380479:G167C;ENSP00000440998:G167C;ENSP00000369460:G167C;ENSP00000391757:G32C;ENSP00000412602:G167C	ENSP00000223951:G167C	G	-	1	0	ELAVL2	23691591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.812000	0.96745	0.563000	0.77884	GGT		0.443	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		A	23701591	C	A	23701591	3	1	143	1	0	0	0	0	1	0	0	0	5050	623	22	5	592	5	ELAVL2	9	23701591	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		23701591	117511840	41	9752											
TMEM215	401498	broad.mit.edu	37	chr9	32784490	32784490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttcagacctagaatcCggcaaggggagctcagatga	12	6	11	12	1	2	4	2	1	0	3	3	5	3	5	4	3	1	2	4	3	3	2	rs535200766		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:32784490C>T	ENST00000342743.5	+	2	674	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	103						integral component of membrane (GO:0016021)		p.S103S(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACCTAGAATCCGGCAAGGGGA	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		19511	0		0	False		,,,				2504	0					uc022bfh.1																			1	Substitution - coding silent(1)	p.S103S(2)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(307-309)tcC>tcT		Homo sapiens transmembrane protein 215 (TMEM215), mRNA.							53	56	55					9																	32784490		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784490C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.309C>T	9.37:g.32784490C>T						TMEM215_uc003zri.4_Silent_p.S103S	p.S103S	NM_212558	NP_997723	Q68D42	TM215_HUMAN			0	309	+			103					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.309C>T	CCDS6530.1																																																																																				0.602	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		T	32784490	C	T	32784490	2	4	143	1	0	0	0	0	0	0	0	1	16135	639	23	2		2	TMEM215	9	32784490	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	9082899	32784490	108428941	42	9753											
BSPRY	54836	broad.mit.edu	37	chr9	116122968	116122968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaacttgacaccatccGcactggcctggtgggcatgc	9	7	12	13	1	0	2	0	1	0	1	1	2	1	2	3	3	2	3	3	3	1	1	rs548730981		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:116122968G>A	ENST00000374183.4	+	3	521	c.482G>A	c.(481-483)cGc>cAc	p.R161H	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	161					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACACCATCCGCACTGGCCTG	0.602													G|||	1	0.000199681	0	0	5008	,	,		17965	0.001		0	False		,,,				2504	0					uc004bhg.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(481-483)cGc>cAc		Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.							31	36	34					9																	116122968		2133	4246	6379	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116122968G>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.482G>A	9.37:g.116122968G>A	ENSP00000363298:p.Arg161His					BSPRY_uc010muw.3_Missense_Mutation_p.R161H	p.R161H	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			2	530	+			161					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.482G>A	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001282	0.93227	.	.	ENSG00000119411	ENST00000374183	T	0.04603	3.59	6.01	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	P;D	0.80764	0.495;0.994	T	0.02736	-1.1117	10	0.45353	T	0.12	-15.2063	14.5278	0.67900	0.07:0.0:0.93:0.0	.	161;161	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	H	161	ENSP00000363298:R161H	ENSP00000363298:R161H	R	+	2	0	BSPRY	115162789	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.756000	0.68757	1.566000	0.49654	0.644000	0.83932	CGC		0.602	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		A	116122968	G	A	116122968	3	1	143	1	0	0	0	0	1	0	0	0	1532	1087	38	1	492	1	BSPRY	9	116122968	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	83338478	116122968	25090463	43	9754											
EGR2	1959	broad.mit.edu	37	chr10	64573353	64573353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagcgggagaaccgccGgtcgcagccttctgctgggc	6	6	16	13	4	2	2	1	0	1	2	3	3	2	2	3	3	4	2	3	3	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:64573353G>A	ENST00000242480.3	-	2	1370	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	EGR2_ENST00000411732.1_Missense_Mutation_p.R299W|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.R349W	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	349					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGAACCGCCGGTCGCAGCCT	0.642																																						uc010qio.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1084-1086)Cgg>Tgg		Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.							51	57	55					10																	64573353		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573353G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1045C>T	10.37:g.64573353G>A	ENSP00000242480:p.Arg349Trp					EGR2_uc010qim.2_Missense_Mutation_p.R349W|EGR2_uc010qin.2_Missense_Mutation_p.R299W|EGR2_uc001jmi.3_Missense_Mutation_p.R349W|EGR2_uc009xph.3_Missense_Mutation_p.R349W	p.R362W	NM_001136179	NP_001129651	P11161	EGR2_HUMAN			2	1104	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		349					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.1084C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726663	0.48833	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.16196	2.36;2.36;2.36	3.98	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.28776	-1.0033	10	0.87932	D	0	-11.9357	10.9706	0.47436	0.0:0.0:0.5081:0.4919	.	299;349	P11161-2;P11161	.;EGR2_HUMAN	W	349;349;299	ENSP00000242480:R349W;ENSP00000402040:R349W;ENSP00000387634:R299W	ENSP00000242480:R349W	R	-	1	2	EGR2	64243359	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.526000	0.35964	0.549000	0.28973	0.655000	0.94253	CGG		0.642	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		A	64573353	G	A	64573353	3	1	143	1	0	0	0	0	1	0	0	0	4972	1115	39	2	389	2	EGR2	10	64573353	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		64573353	70961394	44	9755											
PCGF5	84333	broad.mit.edu	37	chr10	93038067	93038067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcgaccaagaattgatttCggttagaccaaggggcccag	12	9	11	9	2	0	3	0	1	0	2	2	4	0	3	3	3	0	1	3	3	5	4	rs191746944		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:93038067C>T	ENST00000336126.5	+	10	997	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PCGF5_ENST00000543648.1_Silent_p.F255F	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAATTGATTTCGGTTAGACCA	0.388													C|||	1	0.000199681	0	0	5008	,	,		20019	0.001		0	False		,,,				2504	0				Colon(178;732 2696 46441 50370)	uc001khi.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(763-765)ttC>ttT		Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.							127	116	120					10																	93038067		2203	4300	6503	SO:0001819	synonymous_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93038067C>T	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.765C>T	10.37:g.93038067C>T						PCGF5_uc001khh.3_Silent_p.F255F|PCGF5_uc010qnk.2_Silent_p.F255F	p.F255F	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN			9	1173	+			255					B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	ENST00000336126.5	37	c.765C>T	CCDS7413.1																																																																																				0.388	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		T	93038067	C	T	93038067	2	4	143	1	0	0	0	0	0	0	0	1	11577	883	31	2		2	PCGF5	10	93038067	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	28464714	93038067	42496680	45	9756											
OR5D13	390142	broad.mit.edu	37	chr11	55541269	55541269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaactttcatgttagcagCgatggcttatgaccgttttg	10	14	10	7	2	1	2	1	1	0	1	1	3	1	2	1	1	3	4	1	1	3	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:55541269C>T	ENST00000361760.1	+	1	356	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGTTAGCAGCGATGGCTTAT	0.423																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(355-357)gCg>gTg		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							218	213	215					11																	55541269		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541269C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.356C>T	11.37:g.55541269C>T	ENSP00000354800:p.Ala119Val						p.A119V	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	356	+		all_epithelial(135;0.196)	119					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.356C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	c	0.029	-1.345409	0.01266	.	.	ENSG00000198877	ENST00000361760	T	0.01572	4.76	3.3	-4.43	0.03568	GPCR, rhodopsin-like superfamily (1);	0.589854	0.12667	N	0.449093	T	0.00580	0.0019	N	0.00621	-1.32	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39440	-0.9614	10	0.02654	T	1	-0.506	12.3245	0.55003	0.0:0.2439:0.0:0.7561	.	119	Q8NGL4	OR5DD_HUMAN	V	119	ENSP00000354800:A119V	ENSP00000354800:A119V	A	+	2	0	OR5D13	55297845	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.564000	0.00918	-1.384000	0.02103	-1.548000	0.00902	GCG		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		T	55541269	C	T	55541269	3	4	143	1	0	0	0	0	1	0	0	0	11154	768	27	1	358	1	OR5D13	11	55541269	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		55541269	79465247	46	9757											
OR5M9	390162	broad.mit.edu	37	chr11	56230864	56230864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaattctgtcacatccGtgaaattaggcattgcctta	12	13	8	8	1	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	5	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:56230864G>A	ENST00000279791.1	-	1	13	c.14C>T	c.(13-15)aCg>aTg	p.T5M		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGTCACATCCGTGAAATTAGG	0.408																																						uc010rjj.2																			0		p.T5T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(13-15)aCg>aTg		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.							23	24	24					11																	56230864		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230864G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.14C>T	11.37:g.56230864G>A	ENSP00000279791:p.Thr5Met					OR8U8_uc001nit.2_Intron	p.T5M	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	14	-	Esophageal squamous(21;0.00448)		5					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.14C>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920239	0.52653	.	.	ENSG00000150269	ENST00000279791	T	0.04809	3.55	4.79	3.81	0.43845	.	0.000000	0.42821	D	0.000641	T	0.24470	0.0593	M	0.89601	3.045	0.19575	N	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.03673	-1.1014	10	0.87932	D	0	-1.3461	11.7726	0.51967	0.0:0.0:0.8234:0.1765	.	5	Q8NGP3	OR5M9_HUMAN	M	5	ENSP00000279791:T5M	ENSP00000279791:T5M	T	-	2	0	OR5M9	55987440	0.143000	0.22626	0.946000	0.38457	0.813000	0.45954	0.515000	0.22801	2.349000	0.79799	0.549000	0.68633	ACG		0.408	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		A	56230864	G	A	56230864	3	1	143	1	0	0	0	0	1	0	0	0	11177	1145	40	1	920	1	OR5M9	11	56230864	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	689595	56230864	78775652	47	9758											
C11orf84	144097	broad.mit.edu	37	chr11	63585590	63585590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgagagctgagcagccGtccccacccaactcaggtag	10	5	12	14	2	1	2	1	2	0	1	2	4	2	2	4	1	4	3	4	1	2	1	rs114963373	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:63585590G>A	ENST00000294244.4	+	2	740	c.441G>A	c.(439-441)ccG>ccA	p.P147P		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	147	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGAGCAGCCGTCCCCACCCA	0.587													g|||	3	0.000599042	0	0	5008	,	,		16828	0.003		0	False		,,,				2504	0					uc001nxt.3																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(439-441)ccG>ccA		Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.							60	64	62					11																	63585590		2201	4298	6499	SO:0001819	synonymous_variant	144097							g.chr11:63585590G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.441G>A	11.37:g.63585590G>A							p.P147P	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			1	677	+			147			Pro-rich.		Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.441G>A	CCDS31594.1																																																																																				0.587	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		A	63585590	G	A	63585590	2	1	143	1	0	0	0	0	0	0	0	1	1667	1132	40	1		1	C11orf84	11	63585590	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	7354726	63585590	71420926	48	9759											
CAPN1	823	broad.mit.edu	37	chr11	64950650	64950650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctacccgcacagacAtctgccagggagcactgggt	10	6	13	12	1	1	1	0	0	1	1	1	3	1	3	2	3	4	3	2	3	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:64950650A>G	ENST00000527323.1	+	2	559	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	CAPN1_ENST00000533129.1_Missense_Mutation_p.I107V|CAPN1_ENST00000533820.1_Missense_Mutation_p.I107V|CAPN1_ENST00000279247.6_Missense_Mutation_p.I107V|CAPN1_ENST00000524773.1_Missense_Mutation_p.I107V|CAPN1_ENST00000527469.1_3'UTR|AP003068.23_ENST00000526623.1_5'Flank			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	107	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGCACAGACATCTGCCAGGG	0.602																																						uc009yqd.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(319-321)Atc>Gtc		Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.							132	146	142					11																	64950650		1971	4186	6157	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64950650A>G	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.319A>G	11.37:g.64950650A>G	ENSP00000431984:p.Ile107Val					CAPN1_uc001odf.2_Missense_Mutation_p.I107V|CAPN1_uc001odg.2_Missense_Mutation_p.I107V|CAPN1_uc010roa.2_Intron	p.I107V	NM_001198868	NP_001185797	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	2	516	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	107			Calpain catalytic.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.319A>G	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519280	0.44866	.	.	ENSG00000014216	ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323	T;T;T;T;T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.51	3.35	0.38373	Peptidase C2, calpain, catalytic domain (3);	0.054048	0.64402	D	0.000001	T	0.14830	0.0358	L	0.39245	1.2	0.58432	D	0.999998	B	0.13145	0.007	B	0.25140	0.058	T	0.05037	-1.0910	10	0.40728	T	0.16	.	9.3439	0.38096	0.8192:0.1808:0.0:0.0	.	107	P07384	CAN1_HUMAN	V	107	ENSP00000435847:I107V;ENSP00000432512:I107V;ENSP00000435272:I107V;ENSP00000433823:I107V;ENSP00000431528:I107V;ENSP00000431686:I107V;ENSP00000434176:I107V;ENSP00000279247:I107V;ENSP00000431793:I107V;ENSP00000435092:I107V;ENSP00000431172:I107V;ENSP00000435198:I107V;ENSP00000431984:I107V	ENSP00000279247:I107V	I	+	1	0	CAPN1	64707226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.349000	0.59385	0.735000	0.32537	0.459000	0.35465	ATC		0.602	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			G	64950650	A	G	64950650	3	3	143	1	0	0	0	0	1	0	0	0	2622	217	8	4	325	4	CAPN1	11	64950650	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	1365060	64950650	70055866	49	9760											
CABP2	51475	broad.mit.edu	37	chr11	67287267	67287267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcggcagggggtaccttCgaagtcgaccagaccgtccc	7	7	14	13	4	0	1	0	0	0	1	3	3	1	1	4	3	2	2	4	3	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67287267C>T	ENST00000294288.4	-	6	703	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	CABP2_ENST00000353903.5_Missense_Mutation_p.E155K	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	212	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGGGTACCTTCGAAGTCGACC	0.642																																						uc001ome.1																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						c.(652-654)Gaa>Aaa		Homo sapiens calcium binding protein 2 (CABP2), mRNA.							93	91	92					11																	67287267		2200	4295	6495	SO:0001583	missense	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287267C>T	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.634G>A	11.37:g.67287267C>T	ENSP00000294288:p.Glu212Lys					CABP2_uc001omc.1_Missense_Mutation_p.E212K	p.E218K			Q9NPB3	CABP2_HUMAN			5	740	-			212			EF-hand 4.			Missense_Mutation	SNP	ENST00000294288.4	37	c.652G>A	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706191	0.89018	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.09723	2.95;2.95	4.04	4.04	0.47022	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	L	0.48642	1.525	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.972;0.998	D;B;P	0.76575	0.988;0.373;0.9	T	0.01879	-1.1255	10	0.87932	D	0	.	14.9629	0.71169	0.0:1.0:0.0:0.0	.	218;155;212	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	K	155;212	ENSP00000312037:E155K;ENSP00000294288:E212K	ENSP00000294288:E212K	E	-	1	0	CABP2	67043843	1.000000	0.71417	0.997000	0.53966	0.772000	0.43724	7.118000	0.77137	2.098000	0.63641	0.462000	0.41574	GAA		0.642	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1			T	67287267	C	T	67287267	3	4	143	1	0	0	0	0	1	0	0	0	2532	893	31	2	36	2	CABP2	11	67287267	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	2336617	67287267	67719249	50	9761											
ALDH3B2	222	broad.mit.edu	37	chr11	67433035	67433035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggccacggtctgggggtCgcagttgtcgtccacgtagc	4	10	16	11	4	1	0	0	0	1	0	4	0	2	0	2	4	1	4	2	4	1	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67433035C>T	ENST00000349015.3	-	7	865	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.D143N|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	143					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GTCTGGGGGTCGCAGTTGTCG	0.637																																						uc001omr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(427-429)Gac>Aac		Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	NADH(DB00157)						118	128	125					11																	67433035		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433035C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.427G>A	11.37:g.67433035C>T	ENSP00000255084:p.Asp143Asn					ALDH3B2_uc001oms.3_Missense_Mutation_p.D143N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D143N	p.D143N	NM_000695	NP_001026786	P48448	AL3B2_HUMAN			6	866	-			143					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.427G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882099	0.51908	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827	D;D;D	0.86097	-2.07;-2.07;-2.07	4.16	4.16	0.48862	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.054360	0.64402	D	0.000001	T	0.81418	0.4818	L	0.49571	1.57	0.58432	D	0.999999	B;B	0.23990	0.095;0.095	B;B	0.27715	0.047;0.082	T	0.76828	-0.2815	10	0.16896	T	0.51	.	16.59	0.84762	0.0:1.0:0.0:0.0	.	28;143	B4DSX1;P48448	.;AL3B2_HUMAN	N	143	ENSP00000431595:D143N;ENSP00000255084:D143N;ENSP00000433718:D143N	ENSP00000255084:D143N	D	-	1	0	ALDH3B2	67189611	0.837000	0.29446	1.000000	0.80357	0.925000	0.55904	1.607000	0.36836	2.302000	0.77476	0.462000	0.41574	GAC		0.637	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		T	67433035	C	T	67433035	3	4	143	1	0	0	0	0	1	0	0	0	500	884	31	2	746	2	ALDH3B2	11	67433035	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	145768	67433035	67573481	51	9762											
CLEC4D	338339	broad.mit.edu	37	chr12	8672917	8672917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttgggtggaccagacGccatttaacccacgcagagt	9	8	13	11	3	0	2	0	0	0	2	0	3	0	3	3	3	1	2	3	3	1	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:8672917G>A	ENST00000299665.2	+	5	673	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TGGACCAGACGCCATTTAACC	0.423																																						uc001qun.3																			0		p.T160M(1)|p.Q159K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(478-480)acG>acA		Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.							92	93	93					12																	8672917		2203	4300	6503	SO:0001819	synonymous_variant	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8672917G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.480G>A	12.37:g.8672917G>A							p.T160T	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			4	673	+	Lung SC(5;0.184)		160			C-type lectin.		Q8N5J5	Silent	SNP	ENST00000299665.2	37	c.480G>A	CCDS8593.1																																																																																				0.423	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		A	8672917	G	A	8672917	2	1	143	1	0	0	0	0	0	0	0	1	3514	1074	38	1		1	CLEC4D	12	8672917	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		8672917	125178978	52	9763											
TRHDE	29953	broad.mit.edu	37	chr12	73015443	73015443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaactacgtagagaagttAtaatgctggcctgcagtttt	12	12	11	6	1	0	2	0	0	0	2	0	4	0	2	1	1	4	5	1	1	6	6	rs199861881		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:73015443A>G	ENST00000261180.4	+	15	2548	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	818					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGAGAAGTTATAATGCTGGC	0.363																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2452-2454)Ata>Gta		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							77	71	73					12																	73015443		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73015443A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2452A>G	12.37:g.73015443A>G	ENSP00000261180:p.Ile818Val						p.I818V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			14	2482	+			818					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2452A>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854803	0.71719	.	.	ENSG00000072657	ENST00000261180	T	0.05199	3.48	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	L	0.41124	1.26	0.58432	D	0.999999	P	0.39094	0.659	B	0.38921	0.285	T	0.33954	-0.9848	10	0.33940	T	0.23	.	15.5626	0.76262	1.0:0.0:0.0:0.0	.	818	Q9UKU6	TRHDE_HUMAN	V	818	ENSP00000261180:I818V	ENSP00000261180:I818V	I	+	1	0	TRHDE	71301710	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.910000	0.92685	2.134000	0.65973	0.533000	0.62120	ATA		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		G	73015443	A	G	73015443	3	3	143	1	0	0	0	0	1	0	0	0	16476	449	16	4	2510	4	TRHDE	12	73015443	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	64342526	73015443	60836452	53	9764											
CCDC60	160777	broad.mit.edu	37	chr12	119968731	119968731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaagaacttccgccccGccaaaaagatcctggtgaaa	15	7	7	12	2	1	3	0	1	1	2	3	3	3	3	5	1	1	0	5	1	6	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:119968731G>A	ENST00000327554.2	+	13	1879	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	472										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTCCGCCCCGCCAAAAAGAT	0.483																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1414-1416)Gcc>Acc		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							87	85	85					12																	119968731		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119968731G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1414G>A	12.37:g.119968731G>A	ENSP00000333374:p.Ala472Thr					AF086288_uc001txf.3_Intron	p.A472T	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	12	1879	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		472						Missense_Mutation	SNP	ENST00000327554.2	37	c.1414G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117063	0.77323	.	.	ENSG00000183273	ENST00000327554	T	0.23754	1.89	5.82	5.82	0.92795	.	0.196730	0.36303	N	0.002666	T	0.46983	0.1421	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34378	-0.9831	9	.	.	.	-30.3014	11.005	0.47629	0.0848:0.0:0.9152:0.0	.	472	Q8IWA6	CCD60_HUMAN	T	472	ENSP00000333374:A472T	.	A	+	1	0	CCDC60	118453114	0.949000	0.32298	0.970000	0.41538	0.965000	0.64279	2.579000	0.46059	2.751000	0.94390	0.655000	0.94253	GCC		0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		A	119968731	G	A	119968731	3	1	143	1	0	0	0	0	1	0	0	0	2831	1087	38	1	1464	1	CCDC60	12	119968731	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	46953288	119968731	13883164	54	9765											
TDRD3	81550	broad.mit.edu	37	chr13	61103056	61103056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggtataaaaattgaaaAacattttaatgtaaatactg	19	13	6	3	0	0	1	0	1	0	0	0	1	0	1	0	1	2	2	0	1	10	7			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:61103056A>G	ENST00000196169.3	+	11	2206	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	TDRD3_ENST00000377894.2_Missense_Mutation_p.K473R|TDRD3_ENST00000535286.1_Missense_Mutation_p.K566R|TDRD3_ENST00000377881.2_Missense_Mutation_p.K473R	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	473					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAATTGAAAAACATTTTAAT	0.313																																					Colon(36;164 906 35820 50723)	uc001vhz.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1417-1419)aAa>aGa		Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.							29	32	31					13																	61103056		2202	4298	6500	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61103056A>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1418A>G	13.37:g.61103056A>G	ENSP00000196169:p.Lys473Arg					TDRD3_uc010aef.2_Missense_Mutation_p.K298R|TDRD3_uc001via.3_Missense_Mutation_p.K473R|TDRD3_uc010aeg.3_Missense_Mutation_p.K566R|TDRD3_uc001vib.4_Missense_Mutation_p.K472R	p.K473R	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	10	2206	+		Prostate(109;0.173)|Breast(118;0.174)	473					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.1418A>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.110946	0.37242	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.84	5.84	0.93424	.	0.384279	0.32473	N	0.006045	D	0.91509	0.7319	L	0.56769	1.78	0.41896	D	0.990399	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.11329	0.006;0.003;0.001	D	0.87879	0.2676	9	.	.	.	-21.4022	16.5317	0.84362	1.0:0.0:0.0:0.0	.	566;472;473	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	R	473;473;473;566	ENSP00000196169:K473R;ENSP00000367113:K473R;ENSP00000367126:K473R;ENSP00000440190:K566R	.	K	+	2	0	TDRD3	60001057	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.408000	0.66368	2.367000	0.80283	0.528000	0.53228	AAA		0.313	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		G	61103056	A	G	61103056	3	3	143	1	0	0	0	0	1	0	0	0	15729	14	1	4	1739	4	TDRD3	13	61103056	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		61103056	54066822	55	9766											
COL4A2	1284	broad.mit.edu	37	chr13	111077144	111077144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggattacaaggattcccgGgactgcagggacgtaaagga	13	6	14	8	2	0	0	0	0	0	0	1	5	1	5	1	5	2	2	1	5	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:111077144G>A	ENST00000360467.5	+	5	550	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	82					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGATTCCCGGGACTGCAGGG	0.597																																						uc001vqx.3																			0		p.P81Q(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(244-246)Gga>Aga		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							82	91	88					13																	111077144		1916	4114	6030	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077144G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.244G>A	13.37:g.111077144G>A	ENSP00000353654:p.Gly82Arg						p.G82R	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		4	533	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	82					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.244G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151807	0.57151	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.99637	-6.29;-6.29	5.08	5.08	0.68730	.	0.000000	0.49916	D	0.000128	D	0.99806	0.9916	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96768	0.9566	10	0.87932	D	0	.	18.5643	0.91112	0.0:0.0:1.0:0.0	.	82	P08572	CO4A2_HUMAN	R	82	ENSP00000383027:G82R;ENSP00000353654:G82R	ENSP00000257309:G82R	G	+	1	0	COL4A2	109875145	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	8.259000	0.89855	2.395000	0.81488	0.650000	0.86243	GGA		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111077144	G	A	111077144	3	1	143	1	0	0	0	0	1	0	0	0	3690	1233	43	3	258	3	COL4A2	13	111077144	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	49974088	111077144	4092734	56	9767											
RNASE10	338879	broad.mit.edu	37	chr14	20979116	20979116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgcctgtgagctcaaGgggggaaaatgtcacaaaag	13	8	13	7	0	3	1	3	1	0	0	3	2	3	2	1	3	2	1	1	3	5	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr14:20979116G>A	ENST00000328444.5	+	1	505	c.486G>A	c.(484-486)aaG>aaA	p.K162K	RNASE10_ENST00000430083.1_Silent_p.K190K	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	162					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GTGAGCTCAAGGGGGGAAAAT	0.478																																						uc001vxp.2																			0				endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12						c.(568-570)aaG>aaA		Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.																																				SO:0001819	synonymous_variant	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979116G>A		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"Ribonucleases, RNase A"	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.486G>A	14.37:g.20979116G>A						RNASE10_uc010tlj.2_Silent_p.K162K	p.K190K	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	974	+	all_cancers(95;0.00123)		162					A2RUQ3|B4DKY4	Silent	SNP	ENST00000328444.5	37	c.570G>A	CCDS32035.1																																																																																				0.478	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		A	20979116	G	A	20979116	2	1	143	1	0	0	0	0	0	0	0	1	13400	991	35	3		3	RNASE10	14	20979116	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		20979116	86370424	57	9768											
CKMT1B	1159	broad.mit.edu	37	chr15	43890515	43890515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacatcaaactgccccTgctaagcaaagtaaaggagt	15	7	9	10	0	1	0	1	0	0	0	1	1	1	1	2	1	5	4	2	1	5	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr15:43890515T>G	ENST00000441322.1	+	7	1361	c.1001T>G	c.(1000-1002)cTg>cGg	p.L334R	CKMT1B_ENST00000300283.6_Missense_Mutation_p.L334R			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	334	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AAACTGCCCCTGCTAAGCAAA	0.537																																						uc001zsc.3																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1000-1002)cTg>cGg		Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)						55	60	58					15																	43890515		2148	4276	6424	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43890515T>G	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1001T>G	15.37:g.43890515T>G	ENSP00000413255:p.Leu334Arg					CKMT1B_uc010uds.2_Missense_Mutation_p.L365R|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc010bdj.3_Non-coding_Transcript|CKMT1B_uc010udy.1_Non-coding_Transcript	p.L334R	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1393	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	334			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1001T>G	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	T	8.668	0.902163	0.17760	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.11169	2.8;2.8	4.43	4.43	0.53597	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.068181	0.64402	D	0.000014	T	0.14270	0.0345	M	0.62154	1.92	0.80722	D	1	B;B	0.14805	0.011;0.005	B;B	0.17098	0.014;0.017	T	0.02789	-1.1110	10	0.39692	T	0.17	0.0461	14.1308	0.65253	0.0:0.0:0.0:1.0	.	365;334	P12532-2;P12532	.;KCRU_HUMAN	R	334	ENSP00000300283:L334R;ENSP00000413255:L334R	ENSP00000300283:L334R	L	+	2	0	CKMT1B	41677807	0.649000	0.27322	1.000000	0.80357	0.996000	0.88848	1.936000	0.40183	1.983000	0.57843	0.402000	0.26972	CTG		0.537	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		G	43890515	T	G	43890515	3	3	143	1	0	0	0	0	1	0	0	0	3450	1580	55	5	1027	5	CKMT1B	15	43890515	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		43890515	58640877	58	9769											
CACNG3	10368	broad.mit.edu	37	chr16	24358110	24358110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgaagatgctgactaCgaacaggacacagccgaata	14	7	9	11	2	0	3	0	2	0	1	1	6	1	4	2	1	4	1	2	1	5	3	rs368528326		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:24358110C>T	ENST00000005284.3	+	2	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	89					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y89*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562																																						uc002dmf.3																			1	Substitution - Nonsense(1)	p.Y89*(2)|p.D88Y(1)	ovary(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(265-267)taC>taT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.		C		1,4393	2.1+/-5.4	0,1,2196	88	80	83		267	-8.5	0.5	16		83	0,8600		0,0,4300	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		89/316	24358110	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358110C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.267C>T	16.37:g.24358110C>T							p.Y89Y	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	1	1469	+			89						Silent	SNP	ENST00000005284.3	37	c.267C>T	CCDS10620.1																																																																																				0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24358110	C	T	24358110	2	4	143	1	0	0	0	0	0	0	0	1	2558	547	19	1		1	CACNG3	16	24358110	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		24358110	65996643	59	9770											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53671674	53671674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagctttgttctgcaagCtgaccttcagatagtaaaga	12	11	9	9	0	2	3	1	1	1	2	2	3	2	3	2	0	3	5	2	0	5	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:53671674C>T	ENST00000379925.3	-	21	3203	c.3153G>A	c.(3151-3153)caG>caA	p.Q1051Q	RPGRIP1L_ENST00000262135.4_Silent_p.Q1017Q|RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000564374.1_Silent_p.Q1051Q|RPGRIP1L_ENST00000563746.1_Silent_p.Q1017Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1051					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTTCTGCAAGCTGACCTTCAG	0.373																																						uc002ehp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(3151-3153)caG>caA		Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.							162	150	154					16																	53671674		2198	4300	6498	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53671674C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3153G>A	16.37:g.53671674C>T						RPGRIP1L_uc002eho.4_Silent_p.Q1017Q|RPGRIP1L_uc010vgy.2_Silent_p.Q1051Q|RPGRIP1L_uc010cbx.3_Silent_p.Q1017Q|RPGRIP1L_uc010vgz.1_Silent_p.Q1051Q	p.Q1051Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			20	3217	-		all_cancers(37;0.0973)	1051					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.3153G>A	CCDS32447.1																																																																																				0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		T	53671674	C	T	53671674	2	4	143	1	0	0	0	0	0	0	0	1	13550	796	28	3		3	RPGRIP1L	16	53671674	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	29313564	53671674	36683079	60	9771											
MVD	4597	broad.mit.edu	37	chr16	88724388	88724388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccattcagccaaatcCggtcctcggtgaagtccttg	7	9	10	15	3	1	1	1	1	0	0	5	1	4	1	6	3	1	0	6	3	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:88724388C>T	ENST00000301012.3	-	3	220	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	64					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCCAAATCCGGTCCTCGGT	0.617																																						uc002flg.1																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(190-192)cGg>cAg		Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.							72	78	76					16																	88724388		2198	4300	6498	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88724388C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.191G>A	16.37:g.88724388C>T	ENSP00000301012:p.Arg64Gln					MVD_uc002flf.1_5'Flank	p.R64Q	NM_002461	NP_002452	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	2	198	-			64					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.191G>A	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682767	0.68157	.	.	ENSG00000167508	ENST00000301012	T	0.43688	0.94	4.99	4.99	0.66335	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.124545	0.56097	D	0.000036	T	0.36248	0.0960	L	0.43554	1.36	0.80722	D	1	B	0.26809	0.16	B	0.06405	0.002	T	0.11743	-1.0575	10	0.33940	T	0.23	-15.163	17.3653	0.87362	0.0:1.0:0.0:0.0	.	64	P53602	MVD1_HUMAN	Q	64	ENSP00000301012:R64Q	ENSP00000301012:R64Q	R	-	2	0	MVD	87251889	0.999000	0.42202	0.991000	0.47740	0.482000	0.33219	4.160000	0.58164	2.457000	0.83068	0.549000	0.68633	CGG		0.617	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		T	88724388	C	T	88724388	3	4	143	1	0	0	0	0	1	0	0	0	9994	652	23	2	1043	2	MVD	16	88724388	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	35052714	88724388	1630365	61	9772											
PER1	5187	broad.mit.edu	37	chr17	8053154	8053154	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccatggagcaaggctcGccctcctccaggctccactg	7	8	10	16	1	0	0	0	0	0	0	5	1	4	1	5	3	1	3	5	3	1	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr17:8053154G>A	ENST00000317276.4	-	5	807	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PER1_ENST00000581082.1_Silent_p.G190G|PER1_ENST00000354903.5_Silent_p.G174G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	190					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCAAGGCTCGCCCTCCTCCA	0.602			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														uc002gkd.3				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(568-570)ggC>ggT	Other conserved DNA damage response genes	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.							201	193	196					17																	8053154		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053154G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.570C>T	17.37:g.8053154G>A						PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.G174G|PER1_uc010vus.1_Silent_p.G190G	p.G190G	NM_002616	NP_002607	O15534	PER1_HUMAN			4	808	-			190					B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.570C>T	CCDS11131.1																																																																																				0.602	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8053154	G	A	8053154	2	1	143	1	0	0	0	0	0	0	0	1	11729	1074	38	1		1	PER1	17	8053154	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		8053154	73142056	62	9773											
MADCAM1	8174	broad.mit.edu	37	chr19	498515	498515	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcccggaccagctgacCgtctccccagcagccctggt	5	7	10	19	2	1	1	0	1	1	0	3	2	2	2	7	2	3	2	7	2	0	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:498515C>A	ENST00000215637.3	+	3	403	c.357C>A	c.(355-357)acC>acA	p.T119T	MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000346144.4_Silent_p.T119T|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Silent_p.T24T	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	119	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCTGACCGTCTCCCCAG	0.697																																						uc002los.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(355-357)acC>acA		Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.							25	33	30					19																	498515		2202	4299	6501	SO:0001819	synonymous_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498515C>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.357C>A	19.37:g.498515C>A						MADCAM1_uc002lot.3_Silent_p.T119T|MADCAM1_uc010drq.3_Silent_p.T24T	p.T119T	NM_130760	NP_570116	Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	367	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	119			Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	c.357C>A	CCDS12028.1																																																																																				0.697	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	498515	C	A	498515	2	1	143	1	0	0	0	0	0	0	0	1	9151	639	23	5		5	MADCAM1	19	498515	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		498515	58630468	63	9774											
HMHA1	23526	broad.mit.edu	37	chr19	1068628	1068628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccgccagcccgggcgaGctgcccaccgagggtgccgg	6	2	16	17	5	0	0	0	0	0	0	0	2	0	0	6	3	5	1	6	3	0	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:1068628G>A	ENST00000313093.2	+	2	537	c.306G>A	c.(304-306)gaG>gaA	p.E102E	HMHA1_ENST00000590214.1_Silent_p.E129E|HMHA1_ENST00000586866.1_Silent_p.E106E|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000539243.2_Silent_p.E118E|HMHA1_ENST00000592335.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	102					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGGGCGAGCTGCCCACCG	0.716																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(304-306)gaG>gaA		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							17	18	17					19																	1068628		2150	4207	6357	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068628G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.306G>A	19.37:g.1068628G>A						HMHA1_uc010xgd.1_Silent_p.E118E|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	p.E102E	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	537	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	102					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.306G>A	CCDS32863.1																																																																																				0.716	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1068628	G	A	1068628	2	1	143	1	0	0	0	0	0	0	0	1	7240	962	34	3		3	HMHA1	19	1068628	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	570113	1068628	58060355	64	9775											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653547	3653547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcacgcagtacagcccaTagaacttgggcagcagcgtc	11	6	11	13	2	0	1	0	0	0	1	1	1	0	1	1	1	6	5	1	1	3	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:3653547T>C	ENST00000335312.3	-	7	750	c.662A>G	c.(661-663)tAt>tGt	p.Y221C	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.Y221C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.Y221C|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.Y221C	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	221	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GTACAGCCCATAGAACTTGGG	0.642																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.2																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(661-663)tAt>tGt		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.							93	77	82					19																	3653547		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3653547T>C	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.662A>G	19.37:g.3653547T>C	ENSP00000335333:p.Tyr221Cys					PIP5K1C_uc010xhq.2_Missense_Mutation_p.Y221C|PIP5K1C_uc010xhr.2_Missense_Mutation_p.Y221C	p.Y221C	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	6	751	-		Hepatocellular(1079;0.137)	221			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.662A>G	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133248	0.37630	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.39592	1.07;1.07;1.07	4.57	4.57	0.56435	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.058503	0.64402	D	0.000001	T	0.53753	0.1816	M	0.84773	2.715	0.48511	D	0.999666	B;B	0.32302	0.313;0.363	B;B	0.39339	0.267;0.297	T	0.61720	-0.7005	10	0.87932	D	0	-17.342	13.0956	0.59190	0.0:0.0:0.0:1.0	.	221;221	O60331-3;O60331	.;PI51C_HUMAN	C	221	ENSP00000335333:Y221C;ENSP00000445992:Y221C;ENSP00000444779:Y221C	ENSP00000335333:Y221C	Y	-	2	0	PIP5K1C	3604547	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	5.014000	0.64029	1.686000	0.51046	0.402000	0.26972	TAT		0.642	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		C	3653547	T	C	3653547	3	2	143	1	0	0	0	0	1	0	0	0	11941	1406	49	4	1392	4	PIP5K1C	19	3653547	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08	2584919	3653547	55475436	65	9776											
CYP4F3	4051	broad.mit.edu	37	chr19	15760895	15760895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgccgtcatccaggagCggcgccgcaccctccctagc	7	5	11	18	4	1	1	1	0	0	1	3	2	3	2	5	2	3	1	5	2	1	1	rs141338088		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:15760895C>T	ENST00000221307.8	+	7	867	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	CYP4F3_ENST00000586182.2_Missense_Mutation_p.R274W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R274W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R274W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	274					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATCCAGGAGCGGCGCCGCAC	0.567													.|||	1	0.000199681	0	0	5008	,	,		18934	0		0.001	False		,,,				2504	0					uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(820-822)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404		0,2,2201	107	97	101		820,820,820	2.9	0.9	19	dbSNP_134	101	10,8590		0,10,4290	no	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	101,101,101	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	possibly-damaging,possibly-damaging,possibly-damaging	274/521,274/521,274/521	15760895	12,12994	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760895C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.820C>T	19.37:g.15760895C>T	ENSP00000221307:p.Arg274Trp					CYP4F3_uc010xol.2_Missense_Mutation_p.R274W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R274W|CYP4F3_uc010xom.2_Missense_Mutation_p.R125W|CYP4F3_uc002nbk.3_Missense_Mutation_p.R274W|CYP4F3_uc010xon.2_5'UTR	p.R274W	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			6	870	+			274					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.820C>T	CCDS12332.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	.	15.60	2.881684	0.51908	4.54E-4	0.001163	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.82081	-1.57	3.99	2.92	0.33932	.	0.094390	0.41712	U	0.000838	D	0.90549	0.7038	H	0.95645	3.7	0.53005	D	0.999965	P;P	0.46912	0.886;0.705	P;P	0.53760	0.734;0.734	D	0.90434	0.4426	10	0.87932	D	0	.	9.1411	0.36903	0.3919:0.6081:0.0:0.0	.	274;274	B7Z8Z3;Q08477	.;CP4F3_HUMAN	W	201;274	ENSP00000221307:R274W	ENSP00000221307:R274W	R	+	1	2	CYP4F3	15621895	1.000000	0.71417	0.905000	0.35620	0.766000	0.43426	2.325000	0.43840	0.641000	0.30601	0.313000	0.20887	CGG		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		T	15760895	C	T	15760895	3	4	143	1	0	0	0	0	1	0	0	0	4190	759	27	1	842	1	CYP4F3	19	15760895	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	12107348	15760895	43368088	66	9777											
ZNF208	7757	broad.mit.edu	37	chr19	22155163	22155163	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctttgccacattcttcAcatttgtagggtttctctcc	8	16	5	12	0	3	0	1	0	2	0	5	0	4	0	3	1	2	2	3	1	2	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:22155163A>T	ENST00000397126.4	-	4	2821	c.2673T>A	c.(2671-2673)tgT>tgA	p.C891*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	891					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTCTTCACATTTGTAGG	0.378																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2671-2673)tgT>tgA		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							45	48	47					19																	22155163		2086	4222	6308	SO:0001587	stop_gained	7757							g.chr19:22155163A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2673T>A	19.37:g.22155163A>T	ENSP00000380315:p.Cys891*					ZNF208_uc002nqo.1_Intron	p.C891*	NM_007153	NP_009084					3	2822	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.2673T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	37	6.112005	0.97291	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.58	0.211	0.15236	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2122	0.03951	0.4728:0.0:0.2961:0.231	.	.	.	.	X	891;791	.	ENSP00000380315:C891X	C	-	3	2	ZNF208	21947003	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-1.433000	0.02428	-0.464000	0.06963	0.240000	0.17902	TGT		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22155163	A	T	22155163	4	4	143	1	0	0	0	0	0	1	0	0	17763	157	6	5	1173	5	ZNF208	19	22155163	Nonsense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	6394268	22155163	36973820	67	9778											
EML2	24139	broad.mit.edu	37	chr19	46127976	46127976	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagatggggtgacactgaCctttgccccaaacatagagg	13	7	11	10	0	0	4	0	2	0	2	0	4	0	4	3	3	3	0	3	3	3	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:46127976C>T	ENST00000245925.3	-	9	892		c.e9+1		EML2_ENST00000589876.1_Splice_Site|EML2_ENST00000536630.1_Splice_Site|EML2_ENST00000587152.1_Splice_Site|EML2_ENST00000586902.1_Splice_Site	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2						negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTGACACTGACCTTTGCCCCA	0.507																																						uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.e12+1		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.							82	60	68					19																	46127976		2203	4300	6503	SO:0001630	splice_region_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46127976C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.841+1G>A	19.37:g.46127976C>T						EML2_uc002pcn.3_Splice_Site_p.G281_splice|EML2_uc002pcp.3_Splice_Site_p.G165_splice|EML2_uc002pco.3_Splice_Site|EML2_uc010xxl.2_Splice_Site_p.G428_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.2_Splice_Site_p.G281_splice|EML2_uc010ekj.3_Intron|EML2_uc010ekk.1_Splice_Site	p.G482_splice	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	12	1517	-		Ovarian(192;0.179)|all_neural(266;0.224)	281					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Splice_Site	SNP	ENST00000245925.3	37	c.1444_splice	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219436	0.79464	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.819	0.63309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EML2	50819816	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.081000	0.76844	2.117000	0.64856	0.650000	0.86243	.		0.507	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	Intron	T	46127976	C	T	46127976	5	4	143	1	0	0	0	0	0	0	1	0	5097	521	18	3	1151	3	EML2	19	46127976	Splice_Site	SNP	C	TCGA-14-2554-01A-01D-1494-08	23972813	46127976	13001007	68	9779											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633283	51633283	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagccttgggactcgCggggacaggaggccactgac	8	6	17	10	2	0	2	0	2	0	0	1	5	0	5	2	6	1	0	2	6	1	1	rs141580830	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:51633283C>A	ENST00000250360.3	+	7	1406	c.1339C>A	c.(1339-1341)Cgg>Agg	p.R447R	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	447					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TTGGGACTCGCGGGGACAGGA	0.602																																						uc010yct.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45								Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.							66	63	64					19																	51633283		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633283C>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1339C>A	19.37:g.51633283C>A						SIGLEC9_uc002pvu.3_Silent_p.R447R		NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)			+		all_neural(266;0.0529)						Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37		CCDS12825.1																																																																																				0.602	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		A	51633283	C	A	51633283	2	1	143	1	0	0	0	0	0	0	0	1	14315	759	27	5		5	SIGLEC9	19	51633283	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	5505307	51633283	7495700	69	9780											
BIRC8	112401	broad.mit.edu	37	chr19	53792992	53792993	+	Frame_Shift_Ins	INS	-	-	G																															tgtcaactgcttcagcacatINStgtttacaagtgaccagatg																										TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:53792992_53792993insG	ENST00000426466.1	-	1	1882_1883	c.635_636insC	c.(634-636)caafs	p.Q212fs		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	212					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTCAGCACATTGTTTACAAGT	0.426																																						uc002qbk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(634-636)caafs		Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.																																				SO:0001589	frameshift_variant	112401				apoptosis		zinc ion binding	g.chr19:53792992_53792993insG	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.635_636insC	19.37:g.53792992_53792993insG	ENSP00000412957:p.Gln212fs						p.Q212fs	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	0	1883_1884	-			212					Q6IPY1|Q96RW5	Frame_Shift_Ins	INS	ENST00000426466.1	37	c.635_636insC	CCDS12863.1																																																																																				0.426	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		G	53792993	-	G	53792992	7	5	143	1	0	1	1	0	0	0	0	0	1440	1490	52	0	78	0	BIRC8	19	53792992	Frame_Shift_Ins	INS	-	TCGA-14-2554-01A-01D-1494-08	2159709	53792992	5335991	70	9781											
NLRP11	204801	broad.mit.edu	37	chr19	56300621	56300621	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaacatgcagttgggAtgtctcaaaccaccacatag	13	9	7	12	0	2	0	2	0	1	0	3	1	2	1	3	1	3	2	3	1	3	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:56300621A>T	ENST00000589093.1	-	8	2751	c.2658T>A	c.(2656-2658)caT>caA	p.H886Q	NLRP11_ENST00000589824.2_Missense_Mutation_p.H832Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.H832Q|NLRP11_ENST00000443188.1_Missense_Mutation_p.H886Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.H787Q			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	886							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCAGTTGGGATGTCTCAAAC	0.453																																						uc010ygf.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2656-2658)caT>caA		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.							128	124	125					19																	56300621		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300621A>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2658T>A	19.37:g.56300621A>T	ENSP00000466285:p.His886Gln					NLRP11_uc002qlz.3_Missense_Mutation_p.H733Q|NLRP11_uc002qmb.3_Missense_Mutation_p.H787Q|NLRP11_uc002qmc.3_Non-coding_Transcript	p.H886Q	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3369	-		Colorectal(82;0.0002)	886					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2658T>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.411470	0.25465	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.37058	1.22;1.22	2.85	-5.71	0.02413	.	.	.	.	.	T	0.32041	0.0816	L	0.42245	1.32	0.09310	N	1	P;P	0.48503	0.609;0.911	B;P	0.51582	0.258;0.674	T	0.16897	-1.0387	9	0.51188	T	0.08	.	3.4432	0.07472	0.191:0.1516:0.5076:0.1499	.	886;832	P59045;P59045-2	NAL11_HUMAN;.	Q	886;832	ENSP00000409898:H886Q;ENSP00000353251:H832Q	ENSP00000353251:H832Q	H	-	3	2	NLRP11	60992433	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-1.191000	0.03055	-1.891000	0.01109	-0.451000	0.05528	CAT		0.453	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		T	56300621	A	T	56300621	3	4	143	1	0	0	0	0	1	0	0	0	10473	330	12	5	455	5	NLRP11	19	56300621	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	2507629	56300621	2828362	71	9782											
APCDD1L	164284	broad.mit.edu	37	chr20	57035877	57035877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaaggccagccctagaActaggggcagaagtgggaag	13	3	18	7	0	0	2	0	0	0	2	0	5	0	5	2	6	2	1	2	6	6	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr20:57035877A>T	ENST00000371149.3	-	4	1705	c.1475T>A	c.(1474-1476)gTt>gAt	p.V492D	APCDD1L_ENST00000491015.1_5'Flank|APCDD1L_ENST00000439429.1_Missense_Mutation_p.V503D	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	492						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CAGCCCTAGAACTAGGGGCAG	0.612																																						uc010zzp.1																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(1507-1509)gTt>gAt		Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.							45	41	42					20																	57035877		2203	4300	6503	SO:0001583	missense	164284					integral to membrane		g.chr20:57035877A>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1475T>A	20.37:g.57035877A>T	ENSP00000360191:p.Val492Asp					APCDD1L_uc002xze.1_Missense_Mutation_p.V492D	p.V503D	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1832	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		492						Missense_Mutation	SNP	ENST00000371149.3	37	c.1508T>A	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495562	0.44352	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17054	2.32;2.3	3.88	1.04	0.20106	.	1.673140	0.03612	N	0.234950	T	0.13157	0.0319	N	0.24115	0.695	0.09310	N	1	P;P	0.44195	0.828;0.828	B;B	0.39531	0.302;0.302	T	0.26430	-1.0103	10	0.62326	D	0.03	.	6.8413	0.23965	0.5222:0.0:0.4778:0.0	.	503;492	F5H6V6;Q8NCL9	.;APCDL_HUMAN	D	492;503	ENSP00000360191:V492D;ENSP00000413261:V503D	ENSP00000360191:V492D	V	-	2	0	APCDD1L	56469283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.866000	0.27954	0.073000	0.16731	0.482000	0.46254	GTT		0.612	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		T	57035877	A	T	57035877	3	4	143	1	0	0	0	0	1	0	0	0	766	43	2	5	34	5	APCDD1L	20	57035877	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		57035877	5989643	72	9783											
LARGE	9215	broad.mit.edu	37	chr22	34046457	34046457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgccctcctccatggagtAggtcttggagtggttgcctc	5	12	13	11	0	1	0	0	0	1	0	4	2	3	2	4	4	2	2	4	4	1	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr22:34046457A>T	ENST00000354992.2	-	4	875	c.304T>A	c.(304-306)Tac>Aac	p.Y102N	LARGE_ENST00000337431.2_Missense_Mutation_p.Y102N|LARGE_ENST00000437602.2_Missense_Mutation_p.Y102N|LARGE_ENST00000397394.2_Missense_Mutation_p.Y102N|LARGE_ENST00000402320.1_Missense_Mutation_p.Y102N	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	102					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCATGGAGTAGGTCTTGGAG	0.667																																					Colon(70;397 1175 4573 19089 45288)	uc003and.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(304-306)Tac>Aac		Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.							70	65	67					22																	34046457		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046457A>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.304T>A	22.37:g.34046457A>T	ENSP00000347088:p.Tyr102Asn					LARGE_uc003ane.4_Missense_Mutation_p.Y102N|LARGE_uc010gwp.3_Missense_Mutation_p.Y102N|LARGE_uc011ame.2_Missense_Mutation_p.Y34N|LARGE_uc011amf.2_Missense_Mutation_p.Y102N	p.Y102N	NM_004737	NP_598397	O95461	LARGE_HUMAN			3	883	-		Lung NSC(1;0.219)	102					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.304T>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276076	0.23307	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.51071	1.21;1.2;1.21;1.2;0.72;1.52;1.44;1.43	5.6	5.6	0.85130	.	0.062448	0.64402	D	0.000004	T	0.29588	0.0738	N	0.08118	0	0.80722	D	1	B;B;B	0.22003	0.008;0.063;0.037	B;B;B	0.24006	0.014;0.05;0.014	T	0.12604	-1.0541	10	0.17832	T	0.49	-2.3481	15.7816	0.78264	1.0:0.0:0.0:0.0	.	102;102;102	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	N	102	ENSP00000347088:Y102N;ENSP00000336636:Y102N;ENSP00000380549:Y102N;ENSP00000385223:Y102N;ENSP00000388544:Y102N;ENSP00000396277:Y102N;ENSP00000415546:Y102N;ENSP00000389605:Y102N	ENSP00000336636:Y102N	Y	-	1	0	LARGE	32376457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.774000	0.68906	2.125000	0.65367	0.460000	0.39030	TAC		0.667	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		T	34046457	A	T	34046457	3	4	143	1	0	0	0	0	1	0	0	0	8627	420	15	5	2018	5	LARGE	22	34046457	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		34046457	17258109	73	9784											
MXRA5	25878	broad.mit.edu	37	chrX	3238673	3238673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcggtcagtaaacttacTaggaatgctgggtttggaca	10	13	11	7	1	2	0	1	0	1	0	3	2	2	2	0	4	3	3	0	4	5	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:3238673T>C	ENST00000217939.6	-	5	5207	c.5053A>G	c.(5053-5055)Agt>Ggt	p.S1685G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1685						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAAACTTACTAGGAATGCTG	0.438																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5053-5055)Agt>Ggt		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							166	158	161					X																	3238673		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238673T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5053A>G	X.37:g.3238673T>C	ENSP00000217939:p.Ser1685Gly						p.S1685G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	5210	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1685					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5053A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	6.265	0.416970	0.11870	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64618	-0.11	3.2	-4.34	0.03666	.	1.230340	0.06038	N	0.654396	T	0.40145	0.1105	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14172	-1.0482	10	0.23891	T	0.37	.	5.52	0.16927	0.0:0.3592:0.1428:0.498	.	1685	Q9NR99	MXRA5_HUMAN	G	1685	ENSP00000217939:S1685G	ENSP00000217939:S1685G	S	-	1	0	MXRA5	3248673	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-1.139000	0.02881	0.352000	0.21897	AGT		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		C	3238673	T	C	3238673	3	2	143	1	0	0	0	0	1	0	0	0	10003	1522	53	4	3445	4	MXRA5	23	3238673	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		3238673	152031887	74	9785											
MAGEB1	4112	broad.mit.edu	37	chrX	30269312	30269312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcctatgatggagaggaGcacttaatctatggggaacc	12	8	14	7	0	1	2	0	1	1	1	1	6	1	5	2	5	3	1	2	5	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:30269312G>T	ENST00000378981.3	+	4	1023	c.702G>T	c.(700-702)gaG>gaT	p.E234D	MAGEB1_ENST00000397548.2_Missense_Mutation_p.E234D|MAGEB1_ENST00000397550.1_Missense_Mutation_p.E234D	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	234	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATGGAGAGGAGCACTTAATCT	0.498																																						uc022buh.1																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(700-702)gaG>gaT		Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.							76	63	68					X																	30269312		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269312G>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.702G>T	X.37:g.30269312G>T	ENSP00000368264:p.Glu234Asp					MAGEB1_uc004dcc.3_Missense_Mutation_p.E234D|MAGEB1_uc004dcd.3_Missense_Mutation_p.E234D|MAGEB1_uc004dce.3_Missense_Mutation_p.E234D	p.E234D	NM_177415	NP_803134	P43366	MAGB1_HUMAN			0	702	+			234			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.702G>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199133	0.38806	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.05319	3.46;3.46;3.46	3.99	-2.27	0.06846	.	2.983420	0.01808	N	0.033301	T	0.09862	0.0242	L	0.57536	1.79	0.09310	N	1	P	0.35383	0.498	B	0.40329	0.326	T	0.26538	-1.0100	10	0.66056	D	0.02	.	3.2903	0.06947	0.3041:0.0:0.2365:0.4593	.	234	P43366	MAGB1_HUMAN	D	234	ENSP00000368264:E234D;ENSP00000380683:E234D;ENSP00000380681:E234D	ENSP00000368264:E234D	E	+	3	2	MAGEB1	30179233	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.520000	0.06252	-0.766000	0.04639	0.600000	0.82982	GAG		0.498	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		T	30269312	G	T	30269312	3	4	143	1	0	0	0	0	1	0	0	0	9172	962	34	5	704	5	MAGEB1	23	30269312	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	27030639	30269312	125001248	75	9786											
FAM47A	158724	broad.mit.edu	37	chrX	34150178	34150178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtaaaaactcgtcaCggcgacaaacgagagtatct	14	7	12	8	4	2	1	1	0	1	1	3	4	2	2	0	3	2	2	0	3	5	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:34150178C>T	ENST00000346193.3	-	1	269	c.218G>A	c.(217-219)cGt>cAt	p.R73H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	73										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTCGTCACGGCGACAAAC	0.532																																						uc004ddg.3																			0		p.R72C(1)|p.R72H(1)|p.R73C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(217-219)cGt>cAt		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							90	85	87					X																	34150178		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150178C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.218G>A	X.37:g.34150178C>T	ENSP00000345029:p.Arg73His						p.R73H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			0	270	-			73					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.218G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	3.445	-0.113176	0.06881	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	1.17	-1.18	0.09617	.	.	.	.	.	T	0.14141	0.0342	L	0.60455	1.87	0.09310	N	1	P	0.38280	0.625	B	0.28709	0.093	T	0.24512	-1.0158	9	0.18710	T	0.47	.	6.6073	0.22731	0.0:0.6224:0.3776:0.0	.	73	Q5JRC9	FA47A_HUMAN	H	73	ENSP00000345029:R73H	ENSP00000345029:R73H	R	-	2	0	FAM47A	34060099	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.250000	0.18235	-0.498000	0.06632	-0.368000	0.07277	CGT		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34150178	C	T	34150178	3	4	143	1	0	0	0	0	1	0	0	0	5569	536	19	1	2161	1	FAM47A	23	34150178	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	3880866	34150178	121120382	76	9787											
ZNF674	641339	broad.mit.edu	37	chrX	46387797	46387797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacctgcacaggtccGtaccggggtccctccatctg	5	9	10	17	2	2	0	1	0	1	0	6	0	6	0	6	3	2	2	6	3	1	1	rs202006634		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:46387797G>A	ENST00000523374.1	-	5	436	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	ZNF674_ENST00000414387.2_Missense_Mutation_p.R76W	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						GCACAGGTCCGTACCGGGGTC	0.587																																						uc004dgr.3																			0				breast(2)	2						c.(226-228)Cgg>Tgg		Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.							109	105	106					X																	46387797		2203	4300	6503	SO:0001583	missense	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46387797G>A	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"Zinc fingers, C2H2-type", "-"	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.226C>T	X.37:g.46387797G>A	ENSP00000429148:p.Arg76Trp					ZNF674_uc011mlg.2_Missense_Mutation_p.R76W|ZNF674_uc022bvl.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	p.R76W	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN			4	453	-			76			KRAB.		B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	c.226C>T	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	G	7.021	0.558643	0.13436	.	.	ENSG00000251192	ENST00000523374;ENST00000414387;ENST00000518708	T;T;T	0.05139	3.49;3.5;5.55	2.55	-2.99	0.05497	Krueppel-associated box (1);	.	.	.	.	T	0.04952	0.0133	L	0.49126	1.545	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.002	B;B;B	0.04013	0.0;0.001;0.0	T	0.43782	-0.9370	9	0.31617	T	0.26	.	1.243	0.01967	0.2343:0.1688:0.4261:0.1708	.	76;76;76	E9PHQ4;E5RHV3;Q2M3X9	.;.;ZN674_HUMAN	W	76	ENSP00000429148:R76W;ENSP00000428248:R76W;ENSP00000429646:R76W	ENSP00000428248:R76W	R	-	1	2	ZNF674	46272741	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.276000	0.02815	-0.551000	0.06175	0.458000	0.33432	CGG		0.587	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891		A	46387797	G	A	46387797	3	1	143	1	0	0	0	0	1	0	0	0	18078	1144	40	1	1527	1	ZNF674	23	46387797	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	12237619	46387797	108882763	77	9788											
ARHGEF9	23229	broad.mit.edu	37	chrX	62926262	62926262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacagaggcagtctgaattgGggtccaggtgtccgttctgc	7	10	15	9	1	2	2	0	1	2	1	4	3	4	2	2	4	1	2	2	4	1	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:62926262G>T	ENST00000253401.6	-	3	1057	c.257C>A	c.(256-258)cCc>cAc	p.P86H	ARHGEF9_ENST00000374870.4_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.P84H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.P33H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.P65H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	86					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GTCTGAATTGGGGTCCAGGTG	0.547																																						uc004dvl.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(256-258)cCc>cAc		Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.							98	69	79					X																	62926262		2203	4299	6502	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62926262G>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.257C>A	X.37:g.62926262G>T	ENSP00000253401:p.Pro86His					ARHGEF9_uc011mos.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc004dvm.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvj.2_5'UTR|ARHGEF9_uc011mot.2_Missense_Mutation_p.P33H|ARHGEF9_uc004dvn.3_Missense_Mutation_p.P93H	p.P86H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN			2	1096	-			86					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.257C>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712932	0.89112	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374872	T;T;T;T	0.73047	0.86;0.86;-0.71;0.86	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	L	0.44542	1.39	0.80722	D	1	B;D;B	0.76494	0.016;0.999;0.003	B;D;B	0.80764	0.023;0.994;0.005	T	0.78695	-0.2104	10	0.42905	T	0.14	.	17.3085	0.87202	0.0:0.0:1.0:0.0	.	33;84;86	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	H	86;84;33;65	ENSP00000253401:P86H;ENSP00000364012:P84H;ENSP00000399994:P33H;ENSP00000364006:P65H	ENSP00000253401:P86H	P	-	2	0	ARHGEF9	62842987	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.815000	0.91973	2.405000	0.81733	0.600000	0.82982	CCC		0.547	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			T	62926262	G	T	62926262	3	4	143	1	0	0	0	0	1	0	0	0	912	1232	43	5	1325	5	ARHGEF9	23	62926262	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	16538465	62926262	92344298	78	9789											
THOC2	57187	broad.mit.edu	37	chrX	122799518	122799518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcataaatgacttgcctatgCgcaccacttttgcaaataaa	14	12	5	10	1	1	1	1	1	0	0	1	1	1	1	2	0	3	2	2	0	6	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:122799518C>T	ENST00000245838.8	-	12	1392	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	THOC2_ENST00000355725.4_Missense_Mutation_p.R454H|THOC2_ENST00000491737.1_Missense_Mutation_p.R339H	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	454					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTGCCTATGCGCACCACTTT	0.358																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1360-1362)cGc>cAc		Homo sapiens THO complex 2 (THOC2), mRNA.							123	111	115					X																	122799518		1863	4088	5951	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122799518C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1361G>A	X.37:g.122799518C>T	ENSP00000245838:p.Arg454His					THOC2_uc011muh.1_Missense_Mutation_p.R375H|THOC2_uc011mui.1_Missense_Mutation_p.R339H	p.R454H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			11	1393	-			454					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1361G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252998	0.95336	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	D	0.85864	0.5796	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88634	0.3171	9	0.87932	D	0	-4.8464	18.7856	0.91954	0.0:1.0:0.0:0.0	.	375;454	B4DKZ6;Q8NI27	.;THOC2_HUMAN	H	454;454;339;375	.	ENSP00000245838:R454H	R	-	2	0	THOC2	122627199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.382000	0.81193	0.600000	0.82982	CGC		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			T	122799518	C	T	122799518	3	4	143	1	0	0	0	0	1	0	0	0	15862	768	27	1	3528	1	THOC2	23	122799518	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	59873256	122799518	32471042	79	9790											
STAG2	10735	broad.mit.edu	37	chrX	123215351	123215351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacttgatcagttgaaaaCaagagaagccattgccatgc	14	9	10	8	0	1	3	1	2	0	1	1	5	1	4	2	1	4	1	2	1	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123215351C>A	ENST00000371160.1	+	28	3187	c.2897C>A	c.(2896-2898)aCa>aAa	p.T966K	STAG2_ENST00000354548.5_Missense_Mutation_p.T897K|STAG2_ENST00000371157.3_Missense_Mutation_p.T966K|STAG2_ENST00000371144.3_Missense_Mutation_p.T966K|STAG2_ENST00000371145.3_Missense_Mutation_p.T966K|STAG2_ENST00000218089.9_Missense_Mutation_p.T966K|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	966					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGTTGAAAACAAGAGAAGCC	0.328																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2896-2898)aCa>aAa		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							102	96	98					X																	123215351		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123215351C>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2897C>A	X.37:g.123215351C>A	ENSP00000360202:p.Thr966Lys					STAG2_uc004etz.4_Missense_Mutation_p.T966K|STAG2_uc004eub.3_Missense_Mutation_p.T966K|STAG2_uc004euc.3_Missense_Mutation_p.T966K|STAG2_uc004eud.3_Missense_Mutation_p.T966K|STAG2_uc004eue.3_Missense_Mutation_p.T966K	p.T966K	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			27	3301	+			966					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2897C>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236913	0.95240	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.33438	1.79;1.42;1.41;1.41;1.79;1.41	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.71184	0.972;0.901	T	0.52102	-0.8620	10	0.38643	T	0.18	-1.9895	19.0619	0.93096	0.0:1.0:0.0:0.0	.	966;966	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	966;897;966;966;966;966	ENSP00000218089:T966K;ENSP00000346555:T897K;ENSP00000360202:T966K;ENSP00000360199:T966K;ENSP00000360187:T966K;ENSP00000360186:T966K	ENSP00000218089:T966K	T	+	2	0	STAG2	123043032	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.818000	0.86416	2.452000	0.82932	0.538000	0.68166	ACA		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123215351	C	A	123215351	3	1	143	1	0	0	0	0	1	0	0	0	15242	478	17	5	2999	5	STAG2	23	123215351	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	415833	123215351	32055209	80	9791											
ODZ1	10178	broad.mit.edu	37	chrX	123870959	123870959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgctgcagggggtggCttcctggcacaggtgcaggc	5	7	18	11	1	0	0	0	0	0	0	2	1	2	0	2	6	2	5	2	6	0	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123870959C>A	ENST00000371130.3	-	4	687	c.624G>T	c.(622-624)aaG>aaT	p.K208N	TENM1_ENST00000422452.2_Missense_Mutation_p.K208N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	208	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGGGGGTGGCTTCCTGGCAC	0.622																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(622-624)aaG>aaT		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							72	72	72					X																	123870959		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870959C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.624G>T	X.37:g.123870959C>A	ENSP00000360171:p.Lys208Asn					ODZ1_uc011muj.2_Missense_Mutation_p.K208N|ODZ1_uc004euj.3_Missense_Mutation_p.K208N	p.K208N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			3	688	-			208			Teneurin N-terminal.		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.624G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711244	0.48517	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.30182	1.54;1.54	5.13	4.27	0.50696	Teneurin intracellular, N-terminal (2);	0.000000	0.50627	D	0.000114	T	0.29061	0.0722	N	0.22421	0.69	0.36139	D	0.846667	D;P;P	0.54207	0.965;0.901;0.912	P;P;P	0.51550	0.673;0.616;0.529	T	0.32666	-0.9898	10	0.62326	D	0.03	.	9.7226	0.40313	0.0:0.8147:0.0:0.1853	.	208;208;208	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	208	ENSP00000360171:K208N;ENSP00000403954:K208N	ENSP00000360171:K208N	K	-	3	2	ODZ1	123698640	0.952000	0.32445	1.000000	0.80357	0.997000	0.91878	0.082000	0.14847	0.933000	0.37291	0.600000	0.82982	AAG		0.622	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123870959	C	A	123870959	3	1	143	1	0	0	0	0	1	0	0	0	10834	796	28	5	7690	5	ODZ1	23	123870959	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	655608	123870959	31399601	81	9792											
FLNA	2316	broad.mit.edu	37	chrX	153581719	153581719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcccggcccgagggCgggaccacagtggccgtcag	5	4	16	16	4	1	0	1	0	0	0	3	2	3	1	5	5	0	1	5	5	0	0	rs372351673		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:153581719C>T	ENST00000369850.3	-	37	6203	c.5967G>A	c.(5965-5967)ccG>ccA	p.P1989P	FLNA_ENST00000422373.1_Silent_p.P1981P|FLNA_ENST00000369856.3_Silent_p.P122P|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.P1981P|FLNA_ENST00000344736.4_Silent_p.P1949P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1989					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGAGGGCGGGACCACAG	0.627																																						uc004fkk.2																			0				breast(6)	6						c.(5965-5967)ccG>ccA		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.		C	,	0,3574		0,0,1502,570	54	60	58		5967,5943	-11.4	0	X		58	1,6560		0,1,2378,1803	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,1,3880,2373	TT,TC,CC,C		0.0152,0.0,0.0099	,	1989/2648,1981/2640	153581719	1,10134	2072	4182	6254	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581719C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5967G>A	X.37:g.153581719C>T						FLNA_uc011mzn.1_Silent_p.P122P|FLNA_uc010nuu.1_Silent_p.P1981P	p.P1989P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			36	6216	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1989					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5967G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.491687	0.01009	0.0	1.52E-4	ENSG00000196924	ENST00000438732	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59553	-0.7433	4	.	.	.	.	3.8949	0.09135	0.1681:0.3241:0.3392:0.1686	.	.	.	.	H	214	.	.	R	-	2	0	FLNA	153234913	0.000000	0.05858	0.019000	0.16419	0.050000	0.14768	-6.277000	0.00072	-5.034000	0.00023	-0.422000	0.05995	CGC		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153581719	C	T	153581719	2	4	143	1	0	0	0	0	0	0	0	1	5933	755	27	1		1	FLNA	23	153581719	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	29710760	153581719	1688841	82	9793											
F8	2157	broad.mit.edu	37	chrX	154185266	154185266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctacagattctttgtagCagatgaggagagggccaatg	12	10	13	6	0	2	4	0	1	2	3	2	6	2	4	1	2	2	2	1	2	3	4	rs368808810		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:154185266C>A	ENST00000360256.4	-	11	1918	c.1718G>T	c.(1717-1719)tGc>tTc	p.C573F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	573	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTTGTAGCAGATGAGGAG	0.448																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM062688	F8	M		c.(1717-1719)tGc>tTc		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						180	162	168					X																	154185266		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185266C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1718G>T	X.37:g.154185266C>A	ENSP00000353393:p.Cys573Phe						p.C573F	NM_000132	NP_000123	P00451	FA8_HUMAN			10	1889	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		573			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1718G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074923	0.76415	.	.	ENSG00000185010	ENST00000360256	D	0.99454	-5.92	5.19	5.19	0.71726	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.94423	3.535	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.97521	1.0073	10	0.87932	D	0	-14.8486	16.318	0.82935	0.0:1.0:0.0:0.0	.	573	P00451	FA8_HUMAN	F	573	ENSP00000353393:C573F	ENSP00000353393:C573F	C	-	2	0	F8	153838460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.952000	0.75989	2.155000	0.67459	0.600000	0.82982	TGC		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154185266	C	A	154185266	3	1	143	1	0	0	0	0	1	0	0	0	5350	710	25	5	5429	5	F8	23	154185266	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	603547	154185266	1085294	83	9794											
KCNQ4	9132	broad.mit.edu	37	chr1	41289931	41289931	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttctgccctggggaaagGtaggggccccgtggggctgc	4	8	17	12	1	1	0	0	0	1	0	2	1	2	1	4	7	2	2	4	7	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:41289931G>T	ENST00000347132.5	+	9	1374		c.e9+1		KCNQ4_ENST00000509682.2_Intron|KCNQ4_ENST00000506017.1_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CTGGGGAAAGGTAGGGGCCCC	0.667																																						uc001cgh.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.e9+1		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.							6	9	8					1																	41289931		2146	4169	6315	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41289931G>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1292+1G>T	1.37:g.41289931G>T						KCNQ4_uc001cgi.2_Intron	p.S431_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		9	1374	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	431					O96025	Splice_Site	SNP	ENST00000347132.5	37	c.1292_splice	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879425	0.72294	.	.	ENSG00000117013	ENST00000347132	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9089	0.86135	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ4	41062518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.685000	0.74543	2.582000	0.87167	0.591000	0.81541	.		0.667	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	Intron	T	41289931	G	T	41289931	5	4	144	1	0	0	0	0	0	0	1	0	8085	1275	44	5	1327	5	KCNQ4	1	41289931	Splice_Site	SNP	G	TCGA-14-3476-01B-01D-1353-08		41289931	207960690	1	9795											
ZNHIT6	54680	broad.mit.edu	37	chr1	86172017	86172017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatgtcagttctgctttGtgtttctttacacagggcaa	8	17	8	8	0	3	0	1	0	2	0	3	0	3	0	0	1	3	4	0	1	3	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:86172017G>C	ENST00000370574.3	-	3	877	c.744C>G	c.(742-744)caC>caG	p.H248Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.H209Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	248					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTCTGCTTTGTGTTTCTTTA	0.353																																						uc001dlh.3																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(742-744)caC>caG		Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.							121	110	114					1																	86172017		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86172017G>C	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.744C>G	1.37:g.86172017G>C	ENSP00000359606:p.His248Gln					ZNHIT6_uc010osc.2_Missense_Mutation_p.H209Q	p.H248Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			2	893	-			248					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.744C>G	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406486	0.62399	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.49139	0.79;0.79	5.43	4.51	0.55191	Zinc finger, HIT-type (1);	0.052693	0.85682	D	0.000000	T	0.59197	0.2176	M	0.81802	2.56	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.963	T	0.63804	-0.6554	10	0.87932	D	0	-13.7423	8.0726	0.30697	0.253:0.0:0.747:0.0	.	209;248	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	209;248	ENSP00000414344:H209Q;ENSP00000359606:H248Q	ENSP00000359606:H248Q	H	-	3	2	ZNHIT6	85944605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.669000	0.37492	2.724000	0.93272	0.650000	0.86243	CAC		0.353	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		C	86172017	G	C	86172017	3	2	144	1	0	0	0	0	1	0	0	0	18206	1368	48	5	700	5	ZNHIT6	1	86172017	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	44882086	86172017	163078604	2	9796											
GPR61	83873	broad.mit.edu	37	chr1	110086728	110086728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtttgtctgcttcttcaagCcagctccagaggaggagctg	8	11	12	10	0	3	1	1	0	2	1	4	3	4	3	2	2	4	4	2	2	1	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:110086728C>A	ENST00000527748.1	+	2	1767	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	362						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTCTTCAAGCCAGCTCCAGA	0.557																																						uc021orh.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(1084-1086)Cca>Aca		Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.							60	65	63					1																	110086728		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086728C>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1084C>A	1.37:g.110086728C>A	ENSP00000432456:p.Pro362Thr					GPR61_uc001dxy.2_Missense_Mutation_p.P362T	p.P362T	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	0	1084	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	362					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.1084C>A	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.586797	0.00872	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37584	1.19	5.2	3.28	0.37604	.	0.495583	0.21255	N	0.077567	T	0.06050	0.0157	N	0.08118	0	0.23351	N	0.99786	B	0.11235	0.004	B	0.06405	0.002	T	0.38329	-0.9666	10	0.20046	T	0.44	-0.1853	9.4887	0.38946	0.2805:0.575:0.1445:0.0	.	362	Q9BZJ8	GPR61_HUMAN	T	362;490	ENSP00000432456:P362T	ENSP00000286603:P490T	P	+	1	0	GPR61	109888251	0.056000	0.20664	0.902000	0.35471	0.963000	0.63663	0.274000	0.18680	0.737000	0.32582	-0.169000	0.13324	CCA		0.557	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			A	110086728	C	A	110086728	3	1	144	1	0	0	0	0	1	0	0	0	6702	739	26	5	1086	5	GPR61	1	110086728	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	23914711	110086728	139163893	3	9797											
S100A7A	338324	broad.mit.edu	37	chr1	153391619	153391619	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgtttttctcttcacAggacaaaaagggcatacatt	12	15	7	7	0	2	0	1	0	1	0	3	1	2	1	0	2	1	3	0	2	4	7			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:153391619A>T	ENST00000368729.4	+	3	198		c.e3-1		S100A7A_ENST00000329256.2_Splice_Site|S100A7A_ENST00000368728.2_Splice_Site	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A							cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCTTCACAGGACAAAAAG	0.408																																						uc001fbt.1																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.e3-2		Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.							76	71	73					1																	153391619		2203	4300	6503	SO:0001630	splice_region_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391619A>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.142-1A>T	1.37:g.153391619A>T							p.D48_splice	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	199	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		48			EF-hand 1.		D3DV38|Q5SY69	Splice_Site	SNP	ENST00000368729.4	37	c.142_splice	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	A	6.933	0.541883	0.13250	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.26418	N	0.976144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4906	0.16774	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	S100A7A	151658243	0.865000	0.29922	0.032000	0.17829	0.181000	0.23173	2.396000	0.44468	1.019000	0.39547	0.383000	0.25322	.		0.408	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823	Intron	T	153391619	A	T	153391619	5	4	144	1	0	0	0	0	0	0	1	0	13784	202	7	5	146	5	S100A7A	1	153391619	Splice_Site	SNP	A	TCGA-14-3476-01B-01D-1353-08	43304891	153391619	95859002	4	9798											
OLFML2B	25903	broad.mit.edu	37	chr1	161967994	161967994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagggtgcggtccgagcGttcaggtcgcttgtcacagc	6	8	15	12	4	2	0	2	0	0	0	4	2	3	0	2	3	3	2	2	3	0	2	rs34123330	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0	5008	,	,		18931	0		0	False		,,,				2504	0					uc010pkq.2																			2	Substitution - coding silent(2)	p.N365N(4)	large_intestine(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1096-1098)aaC>aaT		Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.		G		28,4378	34.3+/-65.2	0,28,2175	142	144	143		1095	-2	0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967994G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1095C>T	1.37:g.161967994G>A						OLFML2B_uc001gbu.3_Silent_p.N365N	p.N366N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		5	1522	-	all_hematologic(112;0.156)		365					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1098C>T	CCDS1236.1																																																																																				0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161967994	G	A	161967994	2	1	144	1	0	0	0	0	0	0	0	1	10858	1136	40	1		1	OLFML2B	1	161967994	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	8576375	161967994	87282627	5	9799											
CEP350	9857	broad.mit.edu	37	chr1	180053197	180053197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaggtaggatcagagctCtgaaggatgagttgcggaaa	13	9	15	4	1	2	4	1	3	1	1	2	7	2	7	0	4	2	3	0	4	4	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:180053197C>G	ENST00000367607.3	+	31	6587	c.6169C>G	c.(6169-6171)Ctg>Gtg	p.L2057V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2057					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCAGAGCTCTGAAGGATGA	0.358																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6169-6171)Ctg>Gtg		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							56	54	55					1																	180053197		2203	4299	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180053197C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6169C>G	1.37:g.180053197C>G	ENSP00000356579:p.Leu2057Val					CEP350_uc009wxl.2_Missense_Mutation_p.L2056V|CEP350_uc001gnv.3_Missense_Mutation_p.L192V|CEP350_uc001gnw.1_5'Flank	p.L2057V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			30	6552	+			2057					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6169C>G	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.559048|4.559048	0.86335|0.86335	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000437245|ENST00000429851	T;T|.	0.60920|.	0.15;0.15|.	5.39|5.39	4.47|4.47	0.54385|0.54385	.|.	0.000000|.	0.35407|.	N|.	0.003225|.	T|T	0.75221|0.75221	0.3820|0.3820	M|M	0.79926|0.79926	2.475|2.475	0.48762|0.48762	D|D	0.999705|0.999705	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.65773|.	0.675;0.938|.	T|T	0.76639|0.76639	-0.2885|-0.2885	9|5	.|.	.|.	.|.	.|.	13.5086|13.5086	0.61497|0.61497	0.0:0.925:0.0:0.075|0.0:0.925:0.0:0.075	.|.	2057;2057|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	V|C	2057;64|231	ENSP00000356579:L2057V;ENSP00000409395:L64V|.	.|.	L|S	+|+	1|2	2|0	CEP350|CEP350	178319820|178319820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.506000|2.506000	0.45433|0.45433	2.520000|2.520000	0.84964|0.84964	0.555000|0.555000	0.69702|0.69702	CTG|TCT		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	180053197	C	G	180053197	3	3	144	1	0	0	0	0	1	0	0	0	3254	912	32	5	6287	5	CEP350	1	180053197	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	18085203	180053197	69197424	6	9800											
DSTYK	25778	broad.mit.edu	37	chr1	205138447	205138447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcgagtatattccagacGtttgggagtgatctgcaggt	8	15	12	6	2	1	2	0	1	1	1	3	4	2	3	1	2	1	3	1	2	2	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:205138447G>A	ENST00000367162.3	-	3	1198	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DSTYK_ENST00000367160.4_Missense_Mutation_p.R390C|DSTYK_ENST00000367161.3_Missense_Mutation_p.R390C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	390					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TATTCCAGACGTTTGGGAGTG	0.458																																						uc001hbw.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1168-1170)Cgt>Tgt		Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.							114	102	106					1																	205138447		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138447G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1168C>T	1.37:g.205138447G>A	ENSP00000356130:p.Arg390Cys					DSTYK_uc001hbx.3_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	p.R390C	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			2	1232	-			390					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1168C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943915	0.73672	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;D;D	0.81996	-1.21;-1.52;-1.56	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91280	0.5051	10	0.87932	D	0	-14.3958	15.3097	0.74023	0.0:0.0:0.8595:0.1405	.	390;390	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	C	390	ENSP00000356128:R390C;ENSP00000356129:R390C;ENSP00000356130:R390C	ENSP00000356128:R390C	R	-	1	0	DSTYK	203405070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.789000	0.38724	2.663000	0.90544	0.655000	0.94253	CGT		0.458	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		A	205138447	G	A	205138447	3	1	144	1	0	0	0	0	1	0	0	0	4785	1145	40	1	1665	1	DSTYK	1	205138447	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	25085250	205138447	44112174	7	9801											
USH2A	7399	broad.mit.edu	37	chr1	216138718	216138718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaagagtccattagggCgaaaaggtgcttcccacctc	10	10	11	10	1	0	1	0	0	0	1	3	2	2	1	3	2	1	2	3	2	4	3	rs201386640		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:216138718C>T	ENST00000307340.3	-	37	7447	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H	USH2A_ENST00000366943.2_Missense_Mutation_p.R2354H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2354	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in USH2A). {ECO:0000269|PubMed:17085681}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R2354H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTAGGGCGAAAAGGTGC	0.403										HNSCC(13;0.011)			C|||	1	0.000199681	0	0	5008	,	,		16044	0		0.001	False		,,,				2504	0					uc001hku.1																			1	Substitution - Missense(1)	p.R2354H(2)	large_intestine(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM065510	USH2A	M		c.(7060-7062)cGc>cAc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							151	149	150					1																	216138718		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216138718C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7061G>A	1.37:g.216138718C>T	ENSP00000305941:p.Arg2354His	HNSCC(13;0.011)					p.R2354H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7448	-			2354		R -> H (in USH2A).	Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7061G>A	CCDS31025.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.917	1.211142	0.22289	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.56	-5.71	0.02413	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.141870	0.06669	N	0.765866	T	0.13072	0.0317	N	0.00621	-1.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21655	-1.0239	10	0.18276	T	0.48	.	5.5397	0.17031	0.0751:0.2583:0.1031:0.5634	.	2354	O75445	USH2A_HUMAN	H	2354	ENSP00000305941:R2354H;ENSP00000355910:R2354H	ENSP00000305941:R2354H	R	-	2	0	USH2A	214205341	0.095000	0.21747	0.000000	0.03702	0.490000	0.33462	0.145000	0.16157	-0.801000	0.04427	-0.136000	0.14681	CGC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216138718	C	T	216138718	3	4	144	1	0	0	0	0	1	0	0	0	17033	768	27	1	8691	1	USH2A	1	216138718	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	11000271	216138718	33111903	8	9802											
ASAP2	8853	broad.mit.edu	37	chr2	9347326	9347326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaccacccgcacggcGcagtgccggaacactgtggc	8	5	12	16	4	1	0	1	0	0	0	1	1	1	1	3	3	3	3	3	3	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:9347326G>A	ENST00000281419.3	+	1	433	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ASAP2_ENST00000315273.4_Silent_p.A31A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	31					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCGCACGGCGCAGTGCCGGA	0.731																																						uc002qzh.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(91-93)gcG>gcA		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.							24	26	25					2																	9347326		2200	4298	6498	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9347326G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.93G>A	2.37:g.9347326G>A						ASAP2_uc002qzi.2_Silent_p.A31A	p.A31A	NM_003887	NP_003878	O43150	ASAP2_HUMAN			0	433	+			31					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.93G>A	CCDS1661.1																																																																																				0.731	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		A	9347326	G	A	9347326	2	1	144	1	0	0	0	0	0	0	0	1	1011	1074	38	1		1	ASAP2	2	9347326	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		9347326	233852047	9	9803											
EHD3	30845	broad.mit.edu	37	chr2	31484555	31484555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagatctcacctggggaCttccccaatctgaagaggat	11	8	9	13	0	2	3	1	1	2	2	4	5	3	5	4	3	0	0	4	3	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:31484555C>A	ENST00000322054.5	+	5	1341	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	352					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGACTTCCCCAATC	0.592																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1054-1056)gaC>gaA		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							97	95	96					2																	31484555		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484555C>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1056C>A	2.37:g.31484555C>A	ENSP00000327116:p.Asp352Glu					EHD3_uc010ymt.2_Intron	p.D352E	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1664	+	Acute lymphoblastic leukemia(172;0.155)		352					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1056C>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435216	0.83885	.	.	ENSG00000013016	ENST00000322054	T	0.34072	1.38	6.04	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	H	0.95328	3.655	0.80722	D	1	D	0.55172	0.97	P	0.60609	0.877	T	0.73613	-0.3927	10	0.87932	D	0	-49.58	9.5593	0.39360	0.0:0.7917:0.0:0.2083	.	352	Q9NZN3	EHD3_HUMAN	E	352	ENSP00000327116:D352E	ENSP00000327116:D352E	D	+	3	2	EHD3	31338059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.945000	0.29056	1.576000	0.49790	0.561000	0.74099	GAC		0.592	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		A	31484555	C	A	31484555	3	1	144	1	0	0	0	0	1	0	0	0	4979	564	20	5	1074	5	EHD3	2	31484555	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	22137229	31484555	211714818	10	9804											
BCL11A	53335	broad.mit.edu	37	chr2	60689292	60689292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcgcccttctgccaggccgGaagcctctctcgatactgat	7	9	10	15	3	2	1	0	1	2	0	4	3	2	2	4	2	4	0	4	2	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:60689292G>A	ENST00000335712.6	-	4	982	c.755C>T	c.(754-756)tCc>tTc	p.S252F	BCL11A_ENST00000538214.1_Missense_Mutation_p.S218F|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.S218F|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.S252F|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	252					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCAGGCCGGAAGCCTCTCT	0.567			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(754-756)tCc>tTc		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							68	69	68					2																	60689292		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689292G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.755C>T	2.37:g.60689292G>A	ENSP00000338774:p.Ser252Phe					BCL11A_uc002sab.3_Missense_Mutation_p.S252F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.S218F|BCL11A_uc002sad.1_Missense_Mutation_p.S100F|BCL11A_uc002saf.1_Missense_Mutation_p.S218F	p.S252F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	983	-			252					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.755C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357670	0.24598	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.08807	3.05;3.36;3.34;3.28	6.02	6.02	0.97574	.	0.130441	0.53938	D	0.000057	T	0.18718	0.0449	L	0.40543	1.245	0.80722	D	1	P;P;P;D	0.54397	0.897;0.936;0.939;0.966	P;P;P;P	0.55667	0.708;0.571;0.702;0.781	T	0.00042	-1.2227	10	0.41790	T	0.15	-0.0079	20.5407	0.99260	0.0:0.0:1.0:0.0	.	218;218;252;252	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	F	252;288;218;252;218	ENSP00000349300:S252F;ENSP00000438303:S218F;ENSP00000338774:S252F;ENSP00000351307:S218F	ENSP00000338774:S252F	S	-	2	0	BCL11A	60542796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.605000	0.74155	2.865000	0.98341	0.655000	0.94253	TCC		0.567	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		A	60689292	G	A	60689292	3	1	144	1	0	0	0	0	1	0	0	0	1363	1174	41	3	1862	3	BCL11A	2	60689292	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	29204737	60689292	182510081	11	9805											
CKAP2L	150468	broad.mit.edu	37	chr2	113514622	113514622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttagagtatgggttagaaGaaacacattctgaagtcagc	14	10	11	6	0	2	4	1	1	1	3	2	4	2	4	0	1	2	3	0	1	6	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:113514622G>A	ENST00000302450.6	-	4	404	c.326C>T	c.(325-327)tCt>tTt	p.S109F	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	109						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGTTAGAAGAAACACATTC	0.473																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(325-327)tCt>tTt		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							169	181	177					2																	113514622		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514622G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.326C>T	2.37:g.113514622G>A	ENSP00000305204:p.Ser109Phe					CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	p.S109F	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			3	405	-			109					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.326C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824181	0.50739	.	.	ENSG00000169607	ENST00000302450	T	0.10763	2.84	5.15	5.15	0.70609	.	0.437129	0.21773	N	0.069330	T	0.30166	0.0756	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.00380	-1.1776	10	0.66056	D	0.02	-9.1735	14.8477	0.70272	0.0:0.0:1.0:0.0	.	109	Q8IYA6	CKP2L_HUMAN	F	109	ENSP00000305204:S109F	ENSP00000305204:S109F	S	-	2	0	CKAP2L	113231093	0.997000	0.39634	0.720000	0.30636	0.016000	0.09150	4.267000	0.58877	2.787000	0.95880	0.585000	0.79938	TCT		0.473	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		A	113514622	G	A	113514622	3	1	144	1	0	0	0	0	1	0	0	0	3443	942	33	3	1935	3	CKAP2L	2	113514622	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	52825330	113514622	129684751	12	9806											
MARCO	8685	broad.mit.edu	37	chr2	119726837	119726837	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgctggtggtccaaGgtaaagcaggcttggtcctg	6	10	16	9	0	0	0	0	0	0	0	2	0	2	0	2	6	2	5	2	6	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:119726837G>T	ENST00000327097.4	+	2	334	c.199G>T	c.(199-201)Gtt>Ttt	p.V67F	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	67					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGGTCCAAGGTAAAGCAGG	0.612																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.e2+1		Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.							97	88	91					2																	119726837		2203	4300	6503	SO:0001630	splice_region_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119726837G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.199+1G>T	2.37:g.119726837G>T						MARCO_uc010yyf.1_Splice_Site	p.V67_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			2	331	+			67					B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.199_splice	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698224	0.15106	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.92249	-3.0	4.54	4.54	0.55810	.	0.000000	0.47852	D	0.000216	D	0.92319	0.7563	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.91033	0.4865	9	.	.	.	.	12.6521	0.56768	0.0:0.0:1.0:0.0	.	67	Q9UEW3	MARCO_HUMAN	F	67	ENSP00000318916:V67F	.	V	+	1	0	MARCO	119443307	1.000000	0.71417	0.976000	0.42696	0.043000	0.13939	4.291000	0.59025	2.343000	0.79666	0.655000	0.94253	GTT		0.612	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Missense_Mutation	T	119726837	G	T	119726837	5	4	144	1	0	0	0	0	0	0	1	0	9311	1014	35	5	205	5	MARCO	2	119726837	Splice_Site	SNP	G	TCGA-14-3476-01B-01D-1353-08	6212215	119726837	123472536	13	9807											
LRP1B	53353	broad.mit.edu	37	chr2	141143511	141143511	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcattttggctatcacaCcgccagtgatcgggaataca	11	10	9	11	2	2	1	2	1	0	0	3	2	2	2	2	2	1	1	2	2	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:141143511C>A	ENST00000389484.3	-	67	11453	c.10482G>T	c.(10480-10482)cgG>cgT	p.R3494R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3494	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTATCACACCGCCAGTGAT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10480-10482)cgG>cgT		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							142	133	136					2																	141143511		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141143511C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10482G>T	2.37:g.141143511C>A		TSP Lung(27;0.18)					p.R3494R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	66	11454	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3494			LDL-receptor class A 25.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10482G>T	CCDS2182.1																																																																																				0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141143511	C	A	141143511	2	1	144	1	0	0	0	0	0	0	0	1	8955	494	18	5		5	LRP1B	2	141143511	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	21416674	141143511	102055862	14	9808											
CSRNP3	80034	broad.mit.edu	37	chr2	166535947	166535947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagcaattcgttgactatgCccgacaagcagaagaggcct	12	7	12	10	2	0	3	0	1	0	2	1	5	0	4	2	2	3	3	2	2	4	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:166535947C>T	ENST00000342316.4	+	5	1714	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	CSRNP3_ENST00000314499.7_Missense_Mutation_p.A481V|CSRNP3_ENST00000409420.1_Missense_Mutation_p.A513V	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	481					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GTTGACTATGCCCGACAAGCA	0.512																																						uc002udf.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1441-1443)gCc>gTc		Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.							78	69	72					2																	166535947		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535947C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1442C>T	2.37:g.166535947C>T	ENSP00000344042:p.Ala481Val					CSRNP3_uc002udg.3_Missense_Mutation_p.A481V	p.A481V	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN			6	1818	+			481					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.1442C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206549	0.58343	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.48522	0.81;0.81;0.81	5.88	5.88	0.94601	.	0.116799	0.64402	D	0.000013	T	0.37183	0.0994	N	0.19112	0.55	0.46203	D	0.998926	B	0.26809	0.16	B	0.27715	0.082	T	0.11641	-1.0579	9	.	.	.	-22.9571	20.2422	0.98381	0.0:1.0:0.0:0.0	.	481	Q8WYN3	CSRN3_HUMAN	V	481;481;513	ENSP00000318258:A481V;ENSP00000344042:A481V;ENSP00000387195:A513V	.	A	+	2	0	CSRNP3	166244193	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.202000	0.77856	2.782000	0.95742	0.655000	0.94253	GCC		0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		T	166535947	C	T	166535947	3	4	144	1	0	0	0	0	1	0	0	0	3965	739	26	3	1456	3	CSRNP3	2	166535947	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	25392436	166535947	76663426	15	9809											
SP5	389058	broad.mit.edu	37	chr2	171573817	171573817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcaagcgcttcatgcGcagcgaccacctcgcgaagc	8	5	13	15	6	1	0	1	0	0	0	2	2	1	0	2	1	5	3	2	1	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:171573817G>A	ENST00000375281.3	+	2	1262	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	367					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGCTTCATGCGCAGCGACCAC	0.647																																						uc002uge.3																			0				NS(1)|endometrium(2)|lung(1)|prostate(1)	5						c.(1099-1101)cGc>cAc		Homo sapiens Sp5 transcription factor (SP5), mRNA.							32	33	33					2																	171573817		2203	4300	6503	SO:0001583	missense	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573817G>A		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.1100G>A	2.37:g.171573817G>A	ENSP00000364430:p.Arg367His						p.R367H	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN			1	1266	+			367						Missense_Mutation	SNP	ENST00000375281.3	37	c.1100G>A	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344526	0.95807	.	.	ENSG00000204335	ENST00000375281	T	0.71341	-0.56	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84655	0.0703	10	0.87932	D	0	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	367	Q6BEB4	SP5_HUMAN	H	367	ENSP00000364430:R367H	ENSP00000364430:R367H	R	+	2	0	SP5	171282063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.793000	0.96121	0.655000	0.94253	CGC		0.647	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		A	171573817	G	A	171573817	3	1	144	1	0	0	0	0	1	0	0	0	14967	1087	38	1	1106	1	SP5	2	171573817	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	5037870	171573817	71625556	16	9810											
TTN	7273	broad.mit.edu	37	chr2	179613920	179613920	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccttttctgatctacCaagttttccaaaattatttc	10	20	2	9	0	2	1	0	1	2	0	5	1	4	1	3	0	1	1	3	0	5	9			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:179613920C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.G4403C|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGATCTACCAAGTTTTCCA	0.328																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							50	53	52					2																	179613920		2202	4297	6499	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613920C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3930G>T	2.37:g.179613920C>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G4403C		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	16.37	3.105587	0.56291	.	.	ENSG00000155657	ENST00000360870	T	0.60171	0.21	5.95	-2.3	0.06785	.	.	.	.	.	T	0.43233	0.1238	N	0.14661	0.345	0.09310	N	1	D	0.55800	0.973	P	0.50378	0.639	T	0.39981	-0.9587	9	0.66056	D	0.02	.	6.2882	0.21045	0.0:0.4534:0.1985:0.3481	.	4403	Q8WZ42-6	.	C	4403	ENSP00000354117:G4403C	ENSP00000354117:G4403C	G	-	1	0	TTN	179322165	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.149000	0.10204	-0.482000	0.06782	0.563000	0.77884	GGT		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179613920	C	A	179613920	1	1	144	0	1	0	0	0	0	0	0	0	16732	594	21	5		5	TTN	2	179613920	Intron	SNP	C	TCGA-14-3476-01B-01D-1353-08	8040103	179613920	63585453	17	9811											
SGOL2	151246	broad.mit.edu	37	chr2	201437781	201437781	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatgaatcaaaaataaaTaagctcaggaataaagtgaa	24	7	6	4	0	2	2	2	2	0	0	2	3	2	3	0	1	1	1	0	1	12	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:201437781T>G	ENST00000357799.4	+	7	2810	c.2712T>G	c.(2710-2712)aaT>aaG	p.N904K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	904					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAAAAATAAATAAGCTCAGGA	0.299																																						uc002uvw.2																			0		p.N904Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2710-2712)aaT>aaG		Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.							73	76	75					2																	201437781		1785	4016	5801	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437781T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2712T>G	2.37:g.201437781T>G	ENSP00000350447:p.Asn904Lys					SGOL2_uc010zhd.1_Missense_Mutation_p.N904K|SGOL2_uc010zhe.1_Missense_Mutation_p.N904K	p.N904K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			6	2825	+			904					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2712T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	8.298	0.819250	0.16607	.	.	ENSG00000163535	ENST00000357799	T	0.12569	2.67	5.21	2.75	0.32379	.	0.703054	0.12960	N	0.425103	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	D;D;P	0.55385	0.971;0.971;0.904	P;P;P	0.49752	0.621;0.536;0.463	T	0.13361	-1.0512	10	0.27785	T	0.31	-3.7323	3.281	0.06915	0.2043:0.1101:0.0:0.6856	.	904;904;904	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	904	ENSP00000350447:N904K	ENSP00000350447:N904K	N	+	3	2	SGOL2	201146026	0.940000	0.31905	0.037000	0.18230	0.168000	0.22595	1.154000	0.31688	0.954000	0.37851	0.477000	0.44152	AAT		0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201437781	T	G	201437781	3	3	144	1	0	0	0	0	1	0	0	0	14217	1403	49	5	2734	5	SGOL2	2	201437781	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	21823861	201437781	41761592	18	9812											
CPS1	1373	broad.mit.edu	37	chr2	211515146	211515146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaattcctagaagaggCgactagagtttctcaggtag	15	9	11	6	1	1	3	1	0	1	3	3	5	2	3	1	2	0	2	1	2	7	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:211515146C>T	ENST00000233072.5	+	28	3660	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V	CPS1_ENST00000430249.2_Missense_Mutation_p.A1161V|CPS1_ENST00000451903.2_Missense_Mutation_p.A704V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1155	ATP-grasp 2.		A -> E (in CPS1D). {ECO:0000269|PubMed:21120950}.|A -> V (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTAGAAGAGGCGACTAGAGTT	0.368																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(3481-3483)gCg>gTg		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							131	130	130					2																	211515146		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211515146C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3464C>T	2.37:g.211515146C>T	ENSP00000233072:p.Ala1155Val					CPS1_uc002vee.4_Missense_Mutation_p.A1155V|CPS1_uc010fus.3_Missense_Mutation_p.A704V	p.A1161V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	28	3564	+			1155	EH -> AT (in Ref. 1; BAA14328).		ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3482C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936802	0.92458	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98028	-4.67;-4.67;-4.67	5.62	5.62	0.85841	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	-8.7932	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1165;1155	Q59HF8;P31327	.;CPSM_HUMAN	V	1161;1163;1155;704	ENSP00000402608:A1161V;ENSP00000233072:A1155V;ENSP00000406136:A704V	ENSP00000233072:A1155V	A	+	2	0	CPS1	211223391	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.959000	0.76031	2.818000	0.97014	0.655000	0.94253	GCG		0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211515146	C	T	211515146	3	4	144	1	0	0	0	0	1	0	0	0	3823	768	27	1	3596	1	CPS1	2	211515146	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	10077365	211515146	31684227	19	9813											
UGT1A9	54600	broad.mit.edu	37	chr2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttgatgcagtgtttctcGatccttttgataactgtggc	6	18	9	8	1	1	2	0	2	1	0	3	3	2	2	1	1	2	2	1	1	1	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:234581022G>A	ENST00000354728.4	+	1	524	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.D148N|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	148					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.D148N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AGTGTTTCTCGATCCTTTTGA	0.373																																						uc002vus.3																			1	Substitution - Missense(1)	p.D148N(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(442-444)Gat>Aat		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						142	140	141					2																	234581022		2203	4300	6503	SO:0001583	missense	54600				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234581022G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.442G>A	2.37:g.234581022G>A	ENSP00000346768:p.Asp148Asn					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.D148N	p.D148N	NM_021027	NP_066307	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	479	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	151					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.442G>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397022	0.62177	.	.	ENSG00000241119	ENST00000354728	T	0.71698	-0.59	3.41	3.41	0.39046	.	.	.	.	.	D	0.85444	0.5698	M	0.93978	3.48	0.43947	D	0.996612	D;D	0.65815	0.995;0.995	P;P	0.58721	0.844;0.844	D	0.90248	0.4291	9	0.72032	D	0.01	.	15.414	0.74948	0.0:0.0:1.0:0.0	.	148;148	Q5DSZ5;O60656	.;UD19_HUMAN	N	148	ENSP00000346768:D148N	ENSP00000346768:D148N	D	+	1	0	UGT1A9	234245761	1.000000	0.71417	0.985000	0.45067	0.185000	0.23345	7.530000	0.81962	1.907000	0.55213	0.440000	0.28878	GAT		0.373	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		A	234581022	G	A	234581022	3	1	144	1	0	0	0	0	1	0	0	0	16949	1058	37	2	444	2	UGT1A9	2	234581022	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	23065876	234581022	8618351	20	9814											
ITPR1	3708	broad.mit.edu	37	chr3	4699832	4699832	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgatcaggacgcctctCgaagtaggttgcggaatgcc	9	8	12	12	3	2	1	1	1	1	0	3	4	2	3	3	3	2	2	3	3	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:4699832C>T	ENST00000443694.2	+	10	976	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R341*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R341*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R341*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R326*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R326*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	341	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGACGCCTCTCGAAGTAGGTT	0.488																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(976-978)Cga>Tga		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							154	155	155					3																	4699832		1994	4158	6152	SO:0001587	stop_gained	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4699832C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.976C>T	3.37:g.4699832C>T	ENSP00000401671:p.Arg326*					ITPR1_uc021wsi.1_Nonsense_Mutation_p.R341*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.2_Intron	p.R326*	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	11	1326	+			341			MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.976C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716999	0.97784	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.19	3.15	0.36227	.	0.184139	0.45606	D	0.000346	.	.	.	.	.	.	0.50313	D	0.999868	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	11.2788	0.49181	0.6087:0.3913:0.0:0.0	.	.	.	.	X	341;326;341;341;341;326;326	.	ENSP00000306253:R326X	R	+	1	2	ITPR1	4674832	0.065000	0.20965	0.704000	0.30370	0.218000	0.24690	0.359000	0.20233	1.144000	0.42321	0.655000	0.94253	CGA		0.488	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4699832	C	T	4699832	4	4	144	1	0	0	0	0	0	1	0	0	7920	876	31	2	1063	2	ITPR1	3	4699832	Nonsense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		4699832	193322598	21	9815											
SLC6A6	6533	broad.mit.edu	37	chr3	14513770	14513770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgatgccgctgcccaCattttggtccattctttttt	7	16	7	11	1	1	1	0	1	1	0	2	2	2	1	3	1	2	1	3	1	1	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14513770C>G	ENST00000454876.2	+	10	1483	c.1154C>G	c.(1153-1155)aCa>aGa	p.T385R	SLC6A6_ENST00000360861.3_Missense_Mutation_p.T385R			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	385					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCGCTGCCCACATTTTGGTCC	0.537																																						uc010heg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1153-1155)aCa>aGa		Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.							138	122	127					3																	14513770		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14513770C>G		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1154C>G	3.37:g.14513770C>G	ENSP00000398063:p.Thr385Arg					SLC6A6_uc003byq.3_Missense_Mutation_p.T385R|SLC6A6_uc003byr.3_Non-coding_Transcript	p.T385R	NM_001134367	NP_003034	P31641	SC6A6_HUMAN			9	1453	+			385					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1154C>G	CCDS33705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.714605|3.714605	0.68730|0.68730	.|.	.|.	ENSG00000131389|ENSG00000131389	ENST00000452151|ENST00000454876;ENST00000360861	.|T;T	.|0.74526	.|-0.85;-0.85	5.35|5.35	4.47|4.47	0.54385|0.54385	.|.	.|0.090329	.|0.85682	.|D	.|0.000000	T|T	0.69708|0.69708	0.3141|0.3141	L|L	0.53617|0.53617	1.68|1.68	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38195	.|0.622	.|B	.|0.36335	.|0.222	T|T	0.75557|0.75557	-0.3276|-0.3276	6|10	0.87932|0.87932	D|D	0|0	.|.	14.2934|14.2934	0.66295|0.66295	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.	.|385	.|P31641	.|SC6A6_HUMAN	Q|R	7|385	.|ENSP00000398063:T385R;ENSP00000354107:T385R	ENSP00000416199:H343Q|ENSP00000354107:T385R	H|T	+|+	3|2	2|0	SLC6A6|SLC6A6	14488774|14488774	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	6.082000|6.082000	0.71318|0.71318	2.497000|2.497000	0.84241|0.84241	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.537	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		G	14513770	C	G	14513770	3	3	144	1	0	0	0	0	1	0	0	0	14688	478	17	5	1188	5	SLC6A6	3	14513770	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	9813938	14513770	183508660	22	9816											
C3orf20	84077	broad.mit.edu	37	chr3	14799033	14799033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacgtggagctggagcGcttcctgttggcgccccgag	4	9	15	13	4	1	1	0	1	1	0	2	4	2	3	3	3	2	3	3	3	0	2	rs151210868		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14799033G>A	ENST00000253697.3	+	13	2548	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	C3orf20_ENST00000435614.1_Missense_Mutation_p.R577H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R577H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	699						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGCTGGAGCGCTTCCTGTTG	0.627																																						uc003byy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2095-2097)cGc>cAc		Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	57	55	56		1730,1730,2096	1	1	3	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign,benign	577/783,577/783,699/905	14799033	4,13002	2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14799033G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2096G>A	3.37:g.14799033G>A	ENSP00000253697:p.Arg699His					C3orf20_uc003byz.3_Missense_Mutation_p.R577H|C3orf20_uc003bza.3_Missense_Mutation_p.R577H|C3orf20_uc003bzb.1_Missense_Mutation_p.R200H|C3orf20_uc011avj.2_Missense_Mutation_p.R26H	p.R699H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN			12	2548	+			699					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2096G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894366	0.17613	6.81E-4	1.16E-4	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09255	3.29;3.0;3.0	4.95	1.01	0.19927	.	0.468209	0.18721	N	0.133017	T	0.07728	0.0194	L	0.42245	1.32	0.28660	N	0.906166	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.22068	-1.0227	10	0.30854	T	0.27	-11.9609	3.5934	0.07997	0.273:0.0:0.5442:0.1828	.	577;699	Q8ND61-2;Q8ND61	.;CC020_HUMAN	H	699;577;577	ENSP00000253697:R699H;ENSP00000402933:R577H;ENSP00000396081:R577H	ENSP00000253697:R699H	R	+	2	0	C3orf20	14774037	0.907000	0.30839	1.000000	0.80357	0.071000	0.16799	0.383000	0.20651	0.479000	0.27511	0.297000	0.19635	CGC		0.627	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14799033	G	A	14799033	3	1	144	1	0	0	0	0	1	0	0	0	2213	1087	38	1	2138	1	C3orf20	3	14799033	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	285263	14799033	183223397	23	9817											
TTC21A	199223	broad.mit.edu	37	chr3	39156148	39156148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagatcactgtgacttcaGggagcttcctgccagccctc	8	9	9	15	0	2	2	2	1	0	1	4	3	3	3	4	1	3	1	4	1	0	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:39156148G>C	ENST00000431162.2	+	6	765	c.631G>C	c.(631-633)Ggg>Cgg	p.G211R	TTC21A_ENST00000301819.6_Missense_Mutation_p.G211R|TTC21A_ENST00000440121.1_Missense_Mutation_p.G170R			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	211										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGACTTCAGGGAGCTTCCT	0.552																																						uc003cjc.2																			0		p.G211G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(631-633)Ggg>Cgg		Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.							117	116	116					3																	39156148		2035	4182	6217	SO:0001583	missense	199223						binding	g.chr3:39156148G>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.631G>C	3.37:g.39156148G>C	ENSP00000398211:p.Gly211Arg					TTC21A_uc003cja.3_Missense_Mutation_p.G211R|TTC21A_uc010hho.2_Missense_Mutation_p.G133R|TTC21A_uc003cjb.3_Missense_Mutation_p.R77T|TTC21A_uc011ayx.1_Missense_Mutation_p.G170R|TTC21A_uc003cjd.2_Non-coding_Transcript	p.G211R	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	5	808	+			211					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.631G>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153437	0.21371	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.63096	-0.02;-0.02;2.3	5.0	0.414	0.16406	Tetratricopeptide-like helical (1);	1.278730	0.05251	N	0.514009	T	0.36303	0.0962	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.14438	0.003;0.004;0.01;0.006;0.004	B;B;B;B;B	0.14023	0.003;0.004;0.01;0.005;0.004	T	0.26916	-1.0089	10	0.56958	D	0.05	-5.1371	1.4823	0.02439	0.1975:0.3576:0.2622:0.1828	.	170;211;211;211;211	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	R	211;211;211;170	ENSP00000301819:G211R;ENSP00000398211:G211R;ENSP00000410882:G170R	ENSP00000301819:G211R	G	+	1	0	TTC21A	39131152	0.116000	0.22171	0.000000	0.03702	0.549000	0.35272	1.172000	0.31908	0.125000	0.18397	-0.254000	0.11334	GGG		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		C	39156148	G	C	39156148	3	2	144	1	0	0	0	0	1	0	0	0	16684	1000	35	5	653	5	TTC21A	3	39156148	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	24357115	39156148	158866282	24	9818											
CACNA2D2	9254	broad.mit.edu	37	chr3	50416395	50416395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgacgtcatagttatgCtgccccacggagaaagtaaa	12	9	12	8	2	1	2	1	1	0	1	1	3	1	2	2	2	2	3	2	2	5	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:50416395C>T	ENST00000479441.1	-	13	1289	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	CACNA2D2_ENST00000424201.2_Silent_p.Q430Q|CACNA2D2_ENST00000435965.1_Silent_p.Q430Q|CACNA2D2_ENST00000266039.3_Silent_p.Q430Q|CACNA2D2_ENST00000429770.1_Silent_p.Q430Q|CACNA2D2_ENST00000423994.2_Silent_p.Q430Q|CACNA2D2_ENST00000360963.3_Silent_p.Q361Q|CACNA2D2_ENST00000395083.1_Silent_p.Q430Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	430	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATAGTTATGCTGCCCCACGG	0.587																																						uc003daq.3																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(1288-1290)caG>caA		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	Gabapentin(DB00996)						85	76	79					3																	50416395		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50416395C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1290G>A	3.37:g.50416395C>T						CACNA2D2_uc003dap.3_Silent_p.Q430Q	p.Q430Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	12	1328	-			430			VWFA.		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.1290G>A	CCDS54588.1																																																																																				0.587	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50416395	C	T	50416395	2	4	144	1	0	0	0	0	0	0	0	1	2549	796	28	3		3	CACNA2D2	3	50416395	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	11260247	50416395	147606035	25	9819											
ACOX2	8309	broad.mit.edu	37	chr3	58520774	58520774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctctcgctctctatgtcGgggtgcatttgcctgctcca	4	14	9	14	2	2	0	0	0	2	0	6	0	3	0	3	2	4	3	3	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:58520774G>A	ENST00000302819.5	-	2	351	c.60C>T	c.(58-60)ccC>ccT	p.P20P	ACOX2_ENST00000459701.2_Silent_p.P20P	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	20					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTATGTCGGGGTGCATTT	0.552																																						uc003dkl.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(58-60)ccC>ccT		Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.							288	253	265					3																	58520774		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520774G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.60C>T	3.37:g.58520774G>A							p.P20P	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	1	235	-			20					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.60C>T	CCDS33775.1																																																																																				0.552	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			A	58520774	G	A	58520774	2	1	144	1	0	0	0	0	0	0	0	1	159	1103	39	2		2	ACOX2	3	58520774	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	8104379	58520774	139501656	26	9820											
KLF15	28999	broad.mit.edu	37	chr3	126071173	126071173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcacctcctgcactggcaCcacctggtggaggggaacag	8	5	15	13	0	0	0	0	0	0	0	1	2	1	2	4	6	2	3	4	6	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:126071173C>G	ENST00000296233.3	-	2	823	c.593G>C	c.(592-594)gGt>gCt	p.G198A	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	198					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGCACTGGCACCACCTGGTGG	0.662																																						uc011bkk.1																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(592-594)gGt>gCt		Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.							25	27	27					3																	126071173		2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071173C>G	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.593G>C	3.37:g.126071173C>G	ENSP00000296233:p.Gly198Ala						p.G198A	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	1	775	-			198						Missense_Mutation	SNP	ENST00000296233.3	37	c.593G>C	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.098271	0.01843	.	.	ENSG00000163884	ENST00000296233	T	0.07800	3.16	4.44	3.54	0.40534	.	0.758305	0.12991	N	0.422482	T	0.07458	0.0188	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36962	-0.9726	10	0.11182	T	0.66	.	12.4061	0.55441	0.0:0.81:0.1899:0.0	.	198	Q9UIH9	KLF15_HUMAN	A	198	ENSP00000296233:G198A	ENSP00000296233:G198A	G	-	2	0	KLF15	127553863	0.000000	0.05858	0.002000	0.10522	0.137000	0.21094	0.606000	0.24194	1.142000	0.42291	0.491000	0.48974	GGT		0.662	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		G	126071173	C	G	126071173	3	3	144	1	0	0	0	0	1	0	0	0	8343	507	18	5	665	5	KLF15	3	126071173	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	67550399	126071173	71951257	27	9821											
COL6A6	131873	broad.mit.edu	37	chr3	130325803	130325803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcagaaggggacatacagGcccacaggtacaatgatttt	13	8	12	8	0	0	2	0	1	0	1	0	3	0	3	1	5	2	2	1	5	4	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:130325803G>A	ENST00000358511.6	+	20	4713	c.4682G>A	c.(4681-4683)gGc>gAc	p.G1561D	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1561D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1561	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACATACAGGCCCACAGGTA	0.353																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4681-4683)gGc>gAc		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							80	77	78					3																	130325803		1850	4093	5943	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130325803G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4682G>A	3.37:g.130325803G>A	ENSP00000351310:p.Gly1561Asp					COL6A6_uc003eni.4_5'UTR	p.G1561D	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			19	4713	+			1561			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4682G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795096	0.50208	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.99619	-6.28;-6.28	5.38	5.38	0.77491	.	.	.	.	.	D	0.99764	0.9904	H	0.97103	3.94	0.42030	D	0.991027	D	0.89917	1.0	D	0.87578	0.998	D	0.97211	0.9871	9	0.87932	D	0	.	14.6146	0.68539	0.0:0.0:1.0:0.0	.	1561	A6NMZ7	CO6A6_HUMAN	D	1561	ENSP00000351310:G1561D;ENSP00000399236:G1561D	ENSP00000351310:G1561D	G	+	2	0	COL6A6	131808493	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	4.676000	0.61627	2.530000	0.85305	0.655000	0.94253	GGC		0.353	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130325803	G	A	130325803	3	1	144	1	0	0	0	0	1	0	0	0	3703	1203	42	3	4760	3	COL6A6	3	130325803	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	4254630	130325803	67696627	28	9822											
CPB1	1360	broad.mit.edu	37	chr3	148562321	148562321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctcgacaagttagaCttttatgtcctgcctgtgct	7	15	9	10	1	1	1	0	0	1	1	3	3	2	1	2	0	3	3	2	0	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:148562321C>A	ENST00000491148.1	+	8	967	c.633C>A	c.(631-633)gaC>gaA	p.D211E	CPB1_ENST00000282957.4_Missense_Mutation_p.D211E			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	211						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACAAGTTAGACTTTTATGTCC	0.413																																						uc003ewl.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(631-633)gaC>gaA		Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.							110	91	98					3																	148562321		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562321C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.633C>A	3.37:g.148562321C>A	ENSP00000417222:p.Asp211Glu						p.D211E	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		6	656	+			211					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.633C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738246	0.69304	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.11495	2.77;2.77;2.77	5.78	4.9	0.64082	Peptidase M14, carboxypeptidase A (2);	0.045023	0.85682	D	0.000000	T	0.22282	0.0537	L	0.49778	1.585	0.80722	D	1	P	0.45348	0.856	P	0.53722	0.733	T	0.00521	-1.1691	10	0.72032	D	0.01	.	15.2049	0.73173	0.0:0.9319:0.0:0.0681	.	211	P15086	CBPB1_HUMAN	E	211;211;177	ENSP00000417222:D211E;ENSP00000282957:D211E;ENSP00000419427:D177E	ENSP00000282957:D211E	D	+	3	2	CPB1	150045011	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	1.128000	0.31369	1.435000	0.47434	0.655000	0.94253	GAC		0.413	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		A	148562321	C	A	148562321	3	1	144	1	0	0	0	0	1	0	0	0	3796	564	20	5	659	5	CPB1	3	148562321	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	18236518	148562321	49460109	29	9823											
SLC7A14	57709	broad.mit.edu	37	chr3	170198876	170198876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcaagctgaccaacagtgCgaggagcgctgccaggaacc	11	5	12	13	2	1	1	1	1	1	0	2	4	1	3	3	2	6	2	3	2	3	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:170198876C>A	ENST00000231706.5	-	7	1510	c.1195G>T	c.(1195-1197)Gca>Tca	p.A399S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	399					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCAACAGTGCGAGGAGCGCT	0.592																																						uc003fgz.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1195-1197)Gca>Tca		Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.							76	66	69					3																	170198876		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198876C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1195G>T	3.37:g.170198876C>A	ENSP00000231706:p.Ala399Ser					CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	p.A399S	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		6	1511	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		399					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1195G>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114986	0.06881	.	.	ENSG00000013293	ENST00000231706	D	0.89810	-2.57	5.3	2.89	0.33648	Amino acid permease domain (1);	0.429503	0.27362	N	0.019711	D	0.86134	0.5860	L	0.49256	1.55	0.34365	D	0.691467	B	0.19706	0.038	B	0.29785	0.107	D	0.83803	0.0237	10	0.45353	T	0.12	.	12.1894	0.54261	0.7167:0.2833:0.0:0.0	.	399	Q8TBB6	S7A14_HUMAN	S	399	ENSP00000231706:A399S	ENSP00000231706:A399S	A	-	1	0	SLC7A14	171681570	1.000000	0.71417	0.879000	0.34478	0.098000	0.18820	1.829000	0.39121	0.319000	0.23209	-0.262000	0.10625	GCA		0.592	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170198876	C	A	170198876	3	1	144	1	0	0	0	0	1	0	0	0	14696	768	27	5	1128	5	SLC7A14	3	170198876	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	21636555	170198876	27823554	30	9824											
BOD1L	259282	broad.mit.edu	37	chr4	13583896	13583896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcatcatcgttctgctCtggcttttcaccagtagttt	5	17	9	10	1	5	0	3	0	2	0	6	0	5	0	1	2	1	5	1	2	1	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:13583896C>T	ENST00000040738.5	-	19	8692	c.8557G>A	c.(8557-8559)Gag>Aag	p.E2853K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2853						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGTTCTGCTCTGGCTTTTCA	0.383																																						uc003gmz.1																			0											c.(8557-8559)Gag>Aag		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							131	124	126					4																	13583896		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13583896C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8557G>A	4.37:g.13583896C>T	ENSP00000040738:p.Glu2853Lys						p.E2853K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			18	8674	-			2853					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.8557G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994769	0.54041	.	.	ENSG00000038219	ENST00000040738	T	0.08282	3.11	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000033	T	0.07548	0.0190	N	0.24115	0.695	0.33039	D	0.531183	P	0.43094	0.799	B	0.43360	0.417	T	0.18618	-1.0331	10	0.31617	T	0.26	-8.3623	10.6526	0.45657	0.0:0.9126:0.0:0.0874	.	2853	Q8NFC6	BOD1L_HUMAN	K	2853	ENSP00000040738:E2853K	ENSP00000040738:E2853K	E	-	1	0	BOD1L	13192994	0.933000	0.31639	0.943000	0.38184	0.158000	0.22134	1.760000	0.38430	2.631000	0.89168	0.650000	0.86243	GAG		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13583896	C	T	13583896	3	4	144	1	0	0	0	0	1	0	0	0	1483	922	32	3	630	3	BOD1L	4	13583896	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		13583896	177570380	31	9825											
EGF	1950	broad.mit.edu	37	chr4	110915953	110915953	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaagaaatagtgactcTgaatgtcccctgtcccacga	11	10	8	12	2	1	3	0	2	1	1	4	4	4	3	4	0	0	1	4	0	4	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:110915953T>C	ENST00000265171.5	+	20	3367	c.2922T>C	c.(2920-2922)tcT>tcC	p.S974S	EGF_ENST00000503392.1_Silent_p.S933S|EGF_ENST00000509793.1_Silent_p.S932S|RNU6-35P_ENST00000384530.1_RNA	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	974	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATAGTGACTCTGAATGTCCCC	0.438																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2920-2922)tcT>tcC		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						166	142	150					4																	110915953		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915953T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2922T>C	4.37:g.110915953T>C						EGF_uc011cfu.2_Silent_p.S932S|EGF_uc011cfv.2_Silent_p.S933S|EGF_uc010imk.3_Silent_p.S122S	p.S974S	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	19	3374	+		Hepatocellular(203;0.0893)	974			EGF-like 9.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2922T>C	CCDS3689.1																																																																																				0.438	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			C	110915953	T	C	110915953	2	2	144	1	0	0	0	0	0	0	0	1	4962	1567	55	4		4	EGF	4	110915953	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	97332057	110915953	80238323	32	9826											
PRDM9	56979	broad.mit.edu	37	chr5	23522495	23522495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaagaggtcagcgagccGcaggatgatgattacctctg	12	8	12	9	2	2	3	1	2	1	1	2	5	2	4	2	2	4	1	2	2	3	2	rs201252353		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:23522495G>A	ENST00000296682.3	+	7	773	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	197					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAGCGAGCCGCAGGATGATG	0.443										HNSCC(3;0.000094)			G|||	1	0.000199681	0	0	5008	,	,		19493	0.001		0	False		,,,				2504	0					uc003jgo.3																			0		p.E196K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(589-591)ccG>ccA		Homo sapiens PR domain containing 9 (PRDM9), mRNA.		G		0,4020		0,0,2010	130	141	137		591	-4.3	0.9	5		137	1,8383		0,1,4191	no	coding-synonymous	PRDM9	NM_020227.2		0,1,6201	AA,AG,GG		0.0119,0.0,0.0081		197/895	23522495	1,12403	2010	4192	6202	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522495G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.591G>A	5.37:g.23522495G>A		HNSCC(3;0.000094)					p.P197P	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			6	773	+			197					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.591G>A	CCDS43307.1																																																																																				0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23522495	G	A	23522495	2	1	144	1	0	0	0	0	0	0	0	1	12463	1074	38	1		1	PRDM9	5	23522495	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		23522495	157392765	33	9827											
NDUFAF2	91942	broad.mit.edu	37	chr5	60368982	60368982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagagaaaagaattgtagAagcagcaaataaaaaagaag	23	5	10	3	1	0	4	0	0	0	4	1	6	0	4	0	0	2	3	0	0	10	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:60368982A>G	ENST00000296597.5	+	2	285	c.158A>G	c.(157-159)gAa>gGa	p.E53G	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	53					negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AGAATTGTAGAAGCAGCAAAT	0.323																																						uc003jsp.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6						c.(157-159)gAa>gGa		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.							100	113	109					5																	60368982		2203	4297	6500	SO:0001583	missense	91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60368982A>G	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"Mitochondrial respiratory chain complex assembly factors"	28086	protein-coding gene	gene with protein product	"Myc-induced mitochondrial protein"	609653	"NDUFA12-like", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.158A>G	5.37:g.60368982A>G	ENSP00000296597:p.Glu53Gly					NDUFAF2_uc003jso.4_Intron	p.E53G	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN			1	285	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	53					A8K5I1	Missense_Mutation	SNP	ENST00000296597.5	37	c.158A>G	CCDS3979.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.27|17.27	3.347743|3.347743	0.61183|0.61183	.|.	.|.	ENSG00000164182|ENSG00000164182	ENST00000296597|ENST00000502658	T|.	0.47528|.	0.84|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.094256|.	0.64402|.	D|.	0.000001|.	D|D	0.84329|0.84329	0.5448|0.5448	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88086|0.88086	0.2810|0.2810	10|5	0.48119|.	T|.	0.1|.	.|.	13.3138|13.3138	0.60394|0.60394	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	53|.	Q8N183|.	MIMIT_HUMAN|.	G|E	53|27	ENSP00000296597:E53G|.	ENSP00000296597:E53G|.	E|K	+|+	2|1	0|0	NDUFAF2|NDUFAF2	60404739|60404739	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.501000|0.501000	0.33797|0.33797	5.147000|5.147000	0.64851|0.64851	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	GAA|AAG		0.323	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		G	60368982	A	G	60368982	3	3	144	1	0	0	0	0	1	0	0	0	10275	246	9	4	164	4	NDUFAF2	5	60368982	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	36846487	60368982	120546278	34	9828											
PCDHA5	56143	broad.mit.edu	37	chr5	140202989	140202989	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgacgcgggcgtgccgccTctgggcagcaacgtgacgct	5	5	16	15	8	1	1	0	1	1	0	1	2	1	1	2	2	3	3	2	2	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140202989T>A	ENST00000529859.1	+	1	1629	c.1629T>A	c.(1627-1629)ccT>ccA	p.P543P	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P543P|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P543P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCGCCTCTGGGCAGCA	0.701																																						uc003lhl.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1627-1629)ccT>ccA		Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.							47	54	52					5																	140202989		2199	4290	6489	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140202989T>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1629T>A	5.37:g.140202989T>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P543P|PCDHAC2_uc003lhj.1_Silent_p.P543P	p.P543P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1629	+			558			Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1629T>A	CCDS54917.1																																																																																				0.701	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202989	T	A	140202989	2	1	144	1	0	0	0	0	0	0	0	1	11527	1538	54	5		5	PCDHA5	5	140202989	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	79834007	140202989	40712271	35	9829											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810930	140810930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaaacgcgccctggacCgcgaagaaaaggctgctcac	11	5	12	13	4	1	2	1	1	0	1	1	4	1	3	2	2	3	3	2	2	4	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140810930C>T	ENST00000252085.3	+	1	746	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAAGAAAA	0.627																																						uc003lkt.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(604-606)Cgc>Tgc		Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.							81	84	83					5																	140810930		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810930C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.604C>T	5.37:g.140810930C>T	ENSP00000252085:p.Arg202Cys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.R202C	p.R202C	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	773	+			202			Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.604C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.538981	0.65085	.	.	ENSG00000253159	ENST00000252085	T	0.01745	4.66	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25082	0.0609	H	0.99900	4.915	0.39064	D	0.960587	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.54728	-0.8250	9	0.87932	D	0	.	13.6454	0.62279	0.1547:0.8453:0.0:0.0	.	202;202	O60330-2;O60330	.;PCDGC_HUMAN	C	202	ENSP00000252085:R202C	ENSP00000252085:R202C	R	+	1	0	PCDHGA12	140791114	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	1.550000	0.36223	2.748000	0.94277	0.655000	0.94253	CGC		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140810930	C	T	140810930	3	4	144	1	0	0	0	0	1	0	0	0	11553	652	23	2	606	2	PCDHGA12	5	140810930	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	607941	140810930	40104330	36	9830											
HAVCR1	26762	broad.mit.edu	37	chr5	156476070	156476070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtgtaagagtacaatgGtgagctggtgggttctctcc	7	14	14	6	0	1	2	0	1	1	1	3	2	2	2	1	3	2	5	1	3	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:156476070G>A	ENST00000339252.3	-	4	1292	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P254S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	249					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTACAATGGTGAGCTGGTG	0.478																																						uc010jij.1																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(760-762)Cca>Tca		Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.							233	228	230					5																	156476070		2032	4185	6217	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156476070G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.760C>T	5.37:g.156476070G>A	ENSP00000344844:p.Pro254Ser					HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S|HAVCR1_uc021ygj.1_Missense_Mutation_p.P254S|HAVCR1_uc021ygk.1_Missense_Mutation_p.P85S	p.P254S	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	945	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	249					O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.760C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	g	10.33	1.319430	0.23994	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.15017	2.47;2.46;2.46;2.47;2.46	3.83	0.0696	0.14375	.	.	.	.	.	T	0.10165	0.0249	L	0.52905	1.665	0.09310	N	1	P;P;P	0.37330	0.59;0.59;0.59	B;B;B	0.30251	0.113;0.113;0.113	T	0.27536	-1.0071	9	0.07482	T	0.82	.	3.7209	0.08456	0.3168:0.186:0.4972:0.0	.	254;249;249	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	254	ENSP00000428524:P254S;ENSP00000427898:P254S;ENSP00000344844:P254S;ENSP00000403333:P254S;ENSP00000440258:P254S	ENSP00000344844:P254S	P	-	1	0	HAVCR1	156408648	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.439000	0.06897	-0.010000	0.14271	-0.119000	0.15052	CCA		0.478	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			A	156476070	G	A	156476070	3	1	144	1	0	0	0	0	1	0	0	0	6973	1261	44	3	354	3	HAVCR1	5	156476070	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	15665140	156476070	24439190	37	9831											
SLIT3	6586	broad.mit.edu	37	chr5	168100307	168100307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcaccagctccacactgTgaaactgcccatcattcact	10	9	6	16	1	3	1	3	1	0	0	4	1	4	1	3	0	3	1	3	0	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:168100307T>C	ENST00000519560.1	-	33	4135	c.3716A>G	c.(3715-3717)cAc>cGc	p.H1239R	SLIT3_ENST00000332966.8_Missense_Mutation_p.H1246R|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1239R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1239	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCACACTGTGAAACTGCCC	0.567																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3736-3738)cAc>cGc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							97	91	93					5																	168100307		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168100307T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3716A>G	5.37:g.168100307T>C	ENSP00000430333:p.His1239Arg					SLIT3_uc003mab.3_Missense_Mutation_p.H1239R	p.H1246R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		32	4157	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1239			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3737A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.690111	0.88735	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.86769	-2.17;-2.17;-2.17	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.89904	3.07	0.80722	D	1	P	0.51449	0.945	P	0.56216	0.794	D	0.94605	0.7799	10	0.87932	D	0	.	15.2785	0.73760	0.0:0.0:0.0:1.0	.	1239	O75094	SLIT3_HUMAN	R	1239;1246;1239	ENSP00000430333:H1239R;ENSP00000332164:H1246R;ENSP00000384890:H1239R	ENSP00000332164:H1246R	H	-	2	0	SLIT3	168032885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.913000	0.87471	1.999000	0.58509	0.459000	0.35465	CAC		0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		C	168100307	T	C	168100307	3	2	144	1	0	0	0	0	1	0	0	0	14741	1696	59	4	871	4	SLIT3	5	168100307	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	11624237	168100307	12814953	38	9832											
BTBD9	114781	broad.mit.edu	37	chr6	38256182	38256182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatttcggctccgactGactccttcaatcacactggc	9	10	8	14	2	2	1	2	1	0	0	5	2	4	1	2	3	0	2	2	3	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:38256182G>T	ENST00000481247.1	-	8	1471	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	BTBD9_ENST00000403056.1_Silent_p.V440V|BTBD9_ENST00000314100.6_Silent_p.V372V|BTBD9_ENST00000408958.1_Silent_p.V372V|BTBD9_ENST00000419706.2_Silent_p.V410V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	440					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGCTCCGACTGACTCCTTCAA	0.463																																						uc003ooa.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1318-1320)gtC>gtA		Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.							108	112	110					6																	38256182		2188	4293	6481	SO:0001819	synonymous_variant	114781				cell adhesion			g.chr6:38256182G>T		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1320C>A	6.37:g.38256182G>T						BTBD9_uc010jwv.3_Silent_p.V410V|BTBD9_uc003ony.4_Silent_p.V372V|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.V440V	p.V440V	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN			8	1896	-			440					Q494V9|Q494W1|Q96M00	Silent	SNP	ENST00000481247.1	37	c.1320C>A	CCDS47418.1																																																																																				0.463	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		T	38256182	G	T	38256182	2	4	144	1	0	0	0	0	0	0	0	1	1548	1277	45	5		5	BTBD9	6	38256182	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		38256182	132858885	39	9833											
SLC29A1	2030	broad.mit.edu	37	chr6	44198124	44198124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcctgtttggtctggcTggccttctgcctgccagcta	3	12	13	13	0	2	0	0	0	2	0	2	0	2	0	4	4	4	4	4	4	1	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:44198124T>C	ENST00000393841.1	+	7	986	c.495T>C	c.(493-495)gcT>gcC	p.A165A	SLC29A1_ENST00000371740.5_Silent_p.A165A|SLC29A1_ENST00000371724.1_Silent_p.A165A|SLC29A1_ENST00000371708.1_Silent_p.A165A|SLC29A1_ENST00000371755.3_Silent_p.A165A|SLC29A1_ENST00000371731.1_Silent_p.A165A|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000427851.2_Silent_p.A165A|SLC29A1_ENST00000371713.1_Silent_p.A165A|SLC29A1_ENST00000313248.7_Silent_p.A244A|SLC29A1_ENST00000393844.1_Silent_p.A165A	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	165					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TTGGTCTGGCTGGCCTTCTGC	0.627																																						uc003oww.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(730-732)gcT>gcC		Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	Troglitazone(DB00197)						66	65	65					6																	44198124		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44198124T>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.495T>C	6.37:g.44198124T>C						SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owu.1_Silent_p.A165A|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	p.A244A	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	924	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		165					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.732T>C	CCDS4908.1																																																																																				0.627	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			C	44198124	T	C	44198124	2	2	144	1	0	0	0	0	0	0	0	1	14534	1567	55	4		4	SLC29A1	6	44198124	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	5941942	44198124	126916943	40	9834											
IMPG1	3617	broad.mit.edu	37	chr6	76744406	76744406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcaaagaggcagaaggTctcctgctggcagatgctga	12	8	13	8	0	2	4	1	1	1	3	3	4	2	4	1	3	2	4	1	3	3	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:76744406T>C	ENST00000369950.3	-	3	589	c.400A>G	c.(400-402)Acc>Gcc	p.T134A	IMPG1_ENST00000369963.3_Missense_Mutation_p.T56A	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGCAGAAGGTCTCCTGCTGG	0.498																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(400-402)Acc>Gcc		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.							115	103	107					6																	76744406		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744406T>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.400A>G	6.37:g.76744406T>C	ENSP00000358966:p.Thr134Ala						p.T134A	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			2	530	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	134						Missense_Mutation	SNP	ENST00000369950.3	37	c.400A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977710	0.53720	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.78003	2.04;-1.14	5.77	5.77	0.91146	.	0.082974	0.52532	D	0.000076	T	0.62648	0.2445	L	0.58428	1.81	0.36612	D	0.875256	B	0.27791	0.189	B	0.31495	0.131	T	0.63382	-0.6650	9	.	.	.	.	11.2165	0.48830	0.1367:0.0:0.0:0.8633	.	134	Q17R60	IMPG1_HUMAN	A	134;56	ENSP00000358966:T134A;ENSP00000358980:T56A	.	T	-	1	0	IMPG1	76801126	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.768000	0.38511	2.197000	0.70478	0.455000	0.32223	ACC		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		C	76744406	T	C	76744406	3	2	144	1	0	0	0	0	1	0	0	0	7728	1667	58	4	2053	4	IMPG1	6	76744406	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	32546282	76744406	94370661	41	9835											
IL22RA2	116379	broad.mit.edu	37	chr6	137482860	137482860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaactgatgaggaaGcctagaaagcaatgtttagg	17	7	13	4	0	0	4	0	2	0	2	0	6	0	6	1	3	3	2	1	3	7	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:137482860G>A	ENST00000296980.2	-	2	327	c.27C>T	c.(25-27)ggC>ggT	p.G9G	IL22RA2_ENST00000339602.3_Silent_p.G9G|IL22RA2_ENST00000349184.4_Silent_p.G9G	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	9					cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGATGAGGAAGCCTAGAAAGC	0.413																																						uc003qhl.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(25-27)ggC>ggT		Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.							124	96	106					6																	137482860		2203	4300	6503	SO:0001819	synonymous_variant	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137482860G>A	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"Interleukins and interleukin receptors"	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.27C>T	6.37:g.137482860G>A						IL22RA2_uc003qhn.3_Silent_p.G9G|IL22RA2_uc003qhm.3_Silent_p.G9G	p.G9G	NM_052962	NP_443194	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	1	328	-	Colorectal(23;0.24)		9					Q08AH7|Q6UWM1|Q96A41|Q96QR0	Silent	SNP	ENST00000296980.2	37	c.27C>T	CCDS5182.1																																																																																				0.413	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			A	137482860	G	A	137482860	2	1	144	1	0	0	0	0	0	0	0	1	7674	958	34	3		3	IL22RA2	6	137482860	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	60738454	137482860	33632207	42	9836											
EZR	7430	broad.mit.edu	37	chr6	159239121	159239121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaacttactggtttcGgcattttcggtttctggtga	5	16	12	8	2	1	1	0	1	1	0	3	1	1	1	0	5	2	4	0	5	2	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:159239121G>A	ENST00000367075.3	-	2	173	c.5C>T	c.(4-6)cCg>cTg	p.P2L	EZR_ENST00000337147.7_Missense_Mutation_p.P2L|EZR-AS1_ENST00000451712.1_RNA|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.P2L	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	2	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TACTGGTTTCGGCATTTTCGG	0.577			T	ROS1	NSCLC																																	uc003qrt.4				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(4-6)cCg>cTg		Homo sapiens ezrin (EZR), transcript variant 1, mRNA.							78	76	76					6																	159239121		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159239121G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.5C>T	6.37:g.159239121G>A	ENSP00000356042:p.Pro2Leu					EZR_uc011efs.2_Missense_Mutation_p.P2L|EZR_uc003qru.4_Missense_Mutation_p.P2L	p.P2L	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	0	220	-		Breast(66;0.000776)|Ovarian(120;0.0303)	2			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.5C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303323	0.40795	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.77229	-1.08;-1.08;-1.08	3.56	1.69	0.24217	Band 4.1 domain (1);	0.253115	0.32416	N	0.006122	T	0.74321	0.3701	M	0.63428	1.95	0.45464	D	0.998433	D;D	0.69078	0.997;0.993	P;P	0.62813	0.907;0.524	T	0.74185	-0.3747	10	0.87932	D	0	.	5.1663	0.15086	0.1238:0.2113:0.6649:0.0	.	2;2	E7EQR4;P15311	.;EZRI_HUMAN	L	2	ENSP00000338934:P2L;ENSP00000356042:P2L;ENSP00000376016:P2L	ENSP00000338934:P2L	P	-	2	0	EZR	159159109	1.000000	0.71417	0.883000	0.34634	0.121000	0.20230	3.765000	0.55272	0.135000	0.18707	-0.350000	0.07774	CCG		0.577	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		A	159239121	G	A	159239121	3	1	144	1	0	0	0	0	1	0	0	0	5335	1116	39	2	1807	2	EZR	6	159239121	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	21756261	159239121	11875946	43	9837											
DNAH11	8701	broad.mit.edu	37	chr7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaacaaggaagtccgcGtctgggatgcttacacgggc	10	7	12	12	3	2	0	1	0	1	0	3	2	3	2	1	3	3	1	1	3	4	1	rs531283952		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:21657267G>A	ENST00000409508.3	+	23	4157	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	DNAH11_ENST00000328843.6_Missense_Mutation_p.V1381I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1381	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1381F(1)|p.V1381I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome				G|||	1	0.000199681	0	0.0014	5008	,	,		19599	0		0	False		,,,				2504	0					uc003svc.3																			2	Substitution - Missense(2)	p.V1381F(2)|p.V1381I(2)	large_intestine(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4141-4143)Gtc>Atc		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							55	55	55					7																	21657267		1887	4106	5993	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21657267G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4126G>A	7.37:g.21657267G>A	ENSP00000475939:p.Val1376Ile						p.V1381I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			22	4172	+			1381			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4141G>A		.	.	.	.	.	.	.	.	.	.	G	5.366	0.252759	0.10185	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.48	2.44	0.29823	Dynein heavy chain, domain-2 (1);	0.624196	0.14824	N	0.296281	T	0.41766	0.1173	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31336	-0.9947	9	0.49607	T	0.09	.	4.7959	0.13272	0.0847:0.1064:0.573:0.2359	.	1381	Q96DT5	DYH11_HUMAN	I	1381	ENSP00000330671:V1381I	ENSP00000330671:V1381I	V	+	1	0	DNAH11	21623792	0.000000	0.05858	0.055000	0.19348	0.034000	0.12701	0.206000	0.17375	0.705000	0.31890	-1.303000	0.01326	GTC		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21657267	G	A	21657267	3	1	144	1	0	0	0	0	1	0	0	0	4599	1145	40	1	4231	1	DNAH11	7	21657267	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		21657267	137481396	44	9838											
CALN1	83698	broad.mit.edu	37	chr7	71275406	71275406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttctcaatgtccttcatCgttaggtggtctcggaaggc	7	14	11	9	2	3	0	2	0	2	0	7	1	4	1	1	4	0	2	1	4	3	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:71275406C>T	ENST00000329008.5	-	5	745	c.447G>A	c.(445-447)acG>acA	p.T149T	CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000395275.2_Silent_p.T191T|CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000431984.1_Silent_p.T149T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463																																						uc003twb.4																			1	Substitution - coding silent(1)	p.T149T(1)|p.R190Q(1)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(571-573)acG>acA		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.							200	162	175					7																	71275406		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71275406C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.447G>A	7.37:g.71275406C>T						CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	p.T191T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			5	964	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	149					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.573G>A	CCDS5541.1																																																																																				0.463	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71275406	C	T	71275406	2	4	144	1	0	0	0	0	0	0	0	1	2591	871	31	2		2	CALN1	7	71275406	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	49618139	71275406	87863257	45	9839											
PMPCB	9512	broad.mit.edu	37	chr7	102937947	102937947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgttgtcatccgcggCgcggcggcggctctggggtt	2	10	19	10	6	2	0	1	0	1	0	3	0	3	0	1	7	0	3	1	7	0	2	rs372942056		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:102937947C>A	ENST00000249269.4	+	1	79	c.41C>A	c.(40-42)gCg>gAg	p.A14E	PMPCB_ENST00000428154.1_Missense_Mutation_p.A14E|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	14					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCCGCGGCGCGGCGGCGG	0.652											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vbk.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(40-42)gCg>gAg		Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.							32	38	36					7																	102937947		2202	4299	6501	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102937947C>A	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.41C>A	7.37:g.102937947C>A	ENSP00000249269:p.Ala14Glu		OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbl.3_Missense_Mutation_p.A14E|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	p.A14E	NM_004279	NP_004270	O75439	MPPB_HUMAN			0	75	+			14					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.41C>A	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.712162	0.48517	.	.	ENSG00000105819	ENST00000249269;ENST00000428154	T;T	0.11385	2.79;2.78	5.31	-2.41	0.06562	.	0.585491	0.17808	N	0.161313	T	0.04407	0.0121	N	0.08118	0	0.20638	N	0.999874	B;B;B	0.20368	0.026;0.026;0.044	B;B;B	0.25506	0.027;0.027;0.061	T	0.32348	-0.9910	10	0.46703	T	0.11	.	5.0101	0.14308	0.0:0.3278:0.2696:0.4026	.	14;14;14	B3KM34;O75439;G3V0E4	.;MPPB_HUMAN;.	E	14	ENSP00000249269:A14E;ENSP00000390035:A14E	ENSP00000249269:A14E	A	+	2	0	PMPCB	102725183	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.562000	0.02156	-0.247000	0.09597	-0.827000	0.03088	GCG		0.652	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		A	102937947	C	A	102937947	3	1	144	1	0	0	0	0	1	0	0	0	12141	768	27	5	43	5	PMPCB	7	102937947	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	31662541	102937947	56200716	46	9840											
WEE2	494551	broad.mit.edu	37	chr7	141429401	141429401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacactggggtctctGggacccacacaggatcaaga	11	7	13	10	0	2	2	1	1	1	1	3	4	2	4	1	5	0	0	1	5	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:141429401G>A	ENST00000397541.2	+	11	2012	c.1606G>A	c.(1606-1608)Ggg>Agg	p.G536R	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	536					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGGGTCTCTGGGACCCACAC	0.522																																						uc003vwn.2																			0		p.G536G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1606-1608)Ggg>Agg		Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.							86	85	85					7																	141429401		1876	4120	5996	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141429401G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1606G>A	7.37:g.141429401G>A	ENSP00000380675:p.Gly536Arg					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.G536R	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			10	2012	+	Melanoma(164;0.0171)		536						Missense_Mutation	SNP	ENST00000397541.2	37	c.1606G>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.044070	0.08196	.	.	ENSG00000214102	ENST00000397541	T	0.55413	0.52	5.53	2.69	0.31865	Protein kinase-like domain (1);	0.843397	0.10072	U	0.719636	T	0.35364	0.0929	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.27773	-1.0064	10	0.14252	T	0.57	.	6.9385	0.24481	0.1479:0.2681:0.5839:0.0	.	536	P0C1S8	WEE2_HUMAN	R	536	ENSP00000380675:G536R	ENSP00000380675:G536R	G	+	1	0	WEE2	141075870	0.002000	0.14202	0.000000	0.03702	0.225000	0.24961	1.155000	0.31700	0.358000	0.24211	-0.137000	0.14449	GGG		0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		A	141429401	G	A	141429401	3	1	144	1	0	0	0	0	1	0	0	0	17342	1348	47	3	1648	3	WEE2	7	141429401	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	38491454	141429401	17709262	47	9841											
GIMAP8	155038	broad.mit.edu	37	chr7	150171495	150171495	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattctttgagtacatgAtcatacttcttaccaggaaa	16	13	5	7	0	3	2	1	2	2	0	3	3	3	3	1	1	3	1	1	1	6	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150171495A>G	ENST00000307271.3	+	4	1652	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	360	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGAGTACATGATCATACTTCT	0.403																																						uc003whj.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1078-1080)Atc>Gtc		Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.							100	107	105					7																	150171495		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171495A>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1078A>G	7.37:g.150171495A>G	ENSP00000305107:p.Ile360Val						p.I360V	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	3	1408	+			360						Missense_Mutation	SNP	ENST00000307271.3	37	c.1078A>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	A	5.623	0.299603	0.10622	.	.	ENSG00000171115	ENST00000307271	T	0.08807	3.05	4.47	-1.44	0.08856	AIG1 (1);	0.788769	0.10792	N	0.633673	T	0.05868	0.0153	L	0.41027	1.25	0.09310	N	1	B	0.19817	0.039	B	0.19946	0.027	T	0.44314	-0.9336	10	0.20519	T	0.43	.	4.004	0.09592	0.562:0.0:0.1061:0.3319	.	360	Q8ND71	GIMA8_HUMAN	V	360	ENSP00000305107:I360V	ENSP00000305107:I360V	I	+	1	0	GIMAP8	149802428	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.317000	0.08060	-0.043000	0.13513	-1.181000	0.01715	ATC		0.403	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		G	150171495	A	G	150171495	3	3	144	1	0	0	0	0	1	0	0	0	6385	333	12	4	1088	4	GIMAP8	7	150171495	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	8742094	150171495	8967168	48	9842											
GIMAP1	170575	broad.mit.edu	37	chr7	150417944	150417944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgctgctggggggCgcgctcctgttctgggtgct	0	11	17	13	2	1	0	0	0	1	0	2	0	2	0	2	5	3	5	2	5	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687																																						uc003whq.3																			0											c.(850-852)ggC>ggT		Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.							9	10	10					7																	150417944		2000	4017	6017	SO:0001819	synonymous_variant	170575							g.chr7:150417944C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.852C>T	7.37:g.150417944C>T						GIMAP1-GIMAP5_uc022apw.1_Intron	p.G284G	NM_130759	NP_570115					2	992	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.852C>T	CCDS5906.1																																																																																				0.687	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		T	150417944	C	T	150417944	2	4	144	1	0	0	0	0	0	0	0	1	6379	755	27	1		1	GIMAP1	7	150417944	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	246449	150417944	8720719	49	9843											
PTDSS1	9791	broad.mit.edu	37	chr8	97296348	97296348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatctgcaggtccgttcactCgacctcatccagccttatgg	7	12	8	14	2	3	0	2	0	1	0	6	1	5	0	4	2	2	2	4	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr8:97296348C>G	ENST00000517309.1	+	3	609	c.283C>G	c.(283-285)Cga>Gga	p.R95G	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353																																						uc003yht.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(283-285)Cga>Gga		Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	Phosphatidylserine(DB00144)						156	158	157					8																	97296348		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97296348C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.283C>G	8.37:g.97296348C>G	ENSP00000430548:p.Arg95Gly					PTDSS1_uc003yhu.1_Intron	p.R95G	NM_014754	NP_055569	P48651	PTSS1_HUMAN			2	385	+	Breast(36;6.18e-05)		95					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.283C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606022	0.66445	.	.	ENSG00000156471	ENST00000517309	T	0.60299	0.2	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78735	-0.2088	10	0.87932	D	0	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	95	P48651	PTSS1_HUMAN	G	95	ENSP00000430548:R95G	ENSP00000430548:R95G	R	+	1	2	PTDSS1	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA		0.353	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			G	97296348	C	G	97296348	3	3	144	1	0	0	0	0	1	0	0	0	12736	876	31	5	293	5	PTDSS1	8	97296348	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		97296348	49067674	50	9844											
HSD17B3	3293	broad.mit.edu	37	chr9	99064323	99064323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaatctcacgcacttcgCcaggcaggccaggcacacca	11	4	11	15	2	1	1	1	0	1	1	3	2	1	1	3	4	0	3	3	4	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:99064323C>T	ENST00000375263.3	-	1	111	c.64G>A	c.(64-66)Gcg>Acg	p.A22T	HSD17B3_ENST00000375262.2_Missense_Mutation_p.A22T	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	22					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				ACGCACTTCGCCAGGCAGGCC	0.547																																						uc004awa.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(64-66)Gcg>Acg		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	NADH(DB00157)						108	96	100					9																	99064323		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99064323C>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.64G>A	9.37:g.99064323C>T	ENSP00000364412:p.Ala22Thr					HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	p.A22T	NM_000197	NP_000188	P37058	DHB3_HUMAN			0	112	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	22					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.64G>A	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536870	0.45176	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.85171	-1.95;-1.94	4.79	1.77	0.24775	.	0.451091	0.22692	N	0.056806	T	0.69522	0.3120	N	0.22421	0.69	0.09310	N	0.99999	B;B	0.15141	0.012;0.012	B;B	0.14023	0.01;0.006	T	0.52003	-0.8633	10	0.23302	T	0.38	-15.1646	4.3448	0.11127	0.0:0.6084:0.1891:0.2025	.	22;22	Q5U0Q6;P37058	.;DHB3_HUMAN	T	22	ENSP00000364412:A22T;ENSP00000364411:A22T	ENSP00000364411:A22T	A	-	1	0	HSD17B3	98104144	0.037000	0.19845	0.714000	0.30535	0.971000	0.66376	-0.282000	0.08445	0.731000	0.32448	0.655000	0.94253	GCG		0.547	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		T	99064323	C	T	99064323	3	4	144	1	0	0	0	0	1	0	0	0	7385	739	26	3	912	3	HSD17B3	9	99064323	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		99064323	42149108	51	9845											
UCK1	83549	broad.mit.edu	37	chr9	134400596	134400596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgtgctgcacgatcAggttgatggcaactgcgcca	8	9	13	11	2	1	1	1	1	0	0	1	3	1	2	2	3	4	4	2	3	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:134400596A>G	ENST00000372215.4	-	7	758	c.665T>C	c.(664-666)cTg>cCg	p.L222P	UCK1_ENST00000372208.3_Silent_p.P190P|UCK1_ENST00000372210.3_Missense_Mutation_p.L213P|UCK1_ENST00000459858.1_5'Flank|UCK1_ENST00000372211.3_Missense_Mutation_p.L227P|RP11-334J6.6_ENST00000415423.1_RNA	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	222					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CTGCACGATCAGGTTGATGGC	0.597																																					Melanoma(42;523 1129 28385 43975 48113)	uc004cay.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(664-666)cTg>cCg		Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.							91	77	82					9																	134400596		2203	4300	6503	SO:0001583	missense	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134400596A>G	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.665T>C	9.37:g.134400596A>G	ENSP00000361289:p.Leu222Pro					UCK1_uc010mzk.3_Missense_Mutation_p.L213P|UCK1_uc004cba.3_Silent_p.P190P|UCK1_uc004caz.3_Non-coding_Transcript	p.L222P	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	6	766	-			222					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	ENST00000372215.4	37	c.665T>C	CCDS6944.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525852	0.85600	.	.	ENSG00000130717	ENST00000372215;ENST00000372211;ENST00000372210	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80430	-0.1386	7	.	.	.	-29.9384	14.559	0.68123	1.0:0.0:0.0:0.0	.	213;222	Q5JT10;Q9HA47	.;UCK1_HUMAN	P	222;227;213	.	.	L	-	2	0	UCK1	133390417	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	8.948000	0.93006	2.045000	0.60652	0.454000	0.30748	CTG		0.597	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		G	134400596	A	G	134400596	3	3	144	1	0	0	0	0	1	0	0	0	16920	188	7	4	172	4	UCK1	9	134400596	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	35336273	134400596	6812835	52	9846											
SFTPD	6441	broad.mit.edu	37	chr10	81701253	81701253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctggacttccctggggacCcatggctccagcagaccctg	7	7	11	16	0	0	1	0	0	0	1	2	3	2	3	5	4	1	2	5	4	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:81701253C>T	ENST00000372292.3	-	6	608	c.568G>A	c.(568-570)Ggt>Agt	p.G190S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	190	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGACCCATGGCTCCA	0.507																																						uc001kbh.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(568-570)Ggt>Agt		Homo sapiens surfactant protein D (SFTPD), mRNA.							76	71	72					10																	81701253		2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81701253C>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.568G>A	10.37:g.81701253C>T	ENSP00000361366:p.Gly190Ser						p.G190S	NM_003019	NP_003010	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		5	611	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		190			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.568G>A	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509925	0.85282	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.99607	-6.27;-6.27	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000059	D	0.99809	0.9917	H	0.97896	4.1	0.43657	D	0.996072	D	0.89917	1.0	D	0.97110	1.0	D	0.96976	0.9712	10	0.72032	D	0.01	-13.2123	17.1368	0.86742	0.0:1.0:0.0:0.0	.	190	P35247	SFTPD_HUMAN	S	190;203	ENSP00000361366:G190S;ENSP00000394325:G203S	ENSP00000361366:G190S	G	-	1	0	SFTPD	81691233	0.982000	0.34865	0.231000	0.23993	0.033000	0.12548	5.002000	0.63952	2.645000	0.89757	0.655000	0.94253	GGT		0.507	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			T	81701253	C	T	81701253	3	4	144	1	0	0	0	0	1	0	0	0	14193	623	22	3	571	3	SFTPD	10	81701253	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		81701253	53833494	53	9847											
MUC5B	727897	broad.mit.edu	37	chr11	1270908	1270908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcatccactggatccacGgccaccccgtcctccacccc	7	6	6	22	2	0	0	0	0	0	0	4	1	4	1	9	2	1	1	9	2	0	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:1270908G>A	ENST00000529681.1	+	31	12856	c.12798G>A	c.(12796-12798)acG>acA	p.T4266T	MUC5B_ENST00000447027.1_Silent_p.T4269T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4266	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCACGGCCACCCCGT	0.647																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12796-12798)acG>acA		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							120	139	133					11																	1270908		2082	4190	6272	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270908G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12798G>A	11.37:g.1270908G>A							p.T4266T	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	12857	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4266			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.12798G>A	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1270908	G	A	1270908	2	1	144	1	0	0	0	0	0	0	0	1	9979	1103	39	2		2	MUC5B	11	1270908	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		1270908	133735608	54	9848											
OR52A1	23538	broad.mit.edu	37	chr11	5172692	5172692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatttttaccacatgaatgCgaatctgtgtggtctttgca	10	15	8	8	1	2	1	0	1	2	0	2	2	2	1	1	1	3	1	1	1	3	4	rs371802271		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:5172692C>T	ENST00000380367.1	-	2	1325	c.908G>A	c.(907-909)cGc>cAc	p.R303H	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGAATGCGAATCTGTGT	0.358																																						uc010qyy.2																			0		p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(907-909)cGc>cAc		Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	129	138	135		908	3.5	0	11		135	0,8594		0,0,4297	no	missense	OR52A1	NM_012375.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	303/313	5172692	1,12995	2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172692C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.908G>A	11.37:g.5172692C>T	ENSP00000369725:p.Arg303His						p.R303H	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	908	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	303					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.908G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030112	0.54790	2.27E-4	0.0	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.58358	0.34;0.34	5.37	3.49	0.39957	.	0.139286	0.30742	N	0.008969	T	0.53642	0.1809	M	0.84156	2.68	0.09310	N	1	B	0.19331	0.035	B	0.12837	0.008	T	0.54490	-0.8286	10	0.72032	D	0.01	.	9.4273	0.38588	0.0:0.7665:0.0:0.2335	.	303	Q9UKL2	O52A1_HUMAN	H	303	ENSP00000369725:R303H;ENSP00000333684:R303H	ENSP00000333684:R303H	R	-	2	0	OR52A1	5129268	0.001000	0.12720	0.016000	0.15963	0.746000	0.42486	1.216000	0.32443	0.822000	0.34565	-0.150000	0.13652	CGC		0.358	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		T	5172692	C	T	5172692	3	4	144	1	0	0	0	0	1	0	0	0	11108	768	27	1	32	1	OR52A1	11	5172692	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	3901784	5172692	129833824	55	9849											
PDE3B	5140	broad.mit.edu	37	chr11	14825558	14825558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcaaaggtcatcttCtgtatcactgactcaccatg	11	10	7	13	1	5	1	3	1	2	0	5	2	5	1	2	1	1	2	2	1	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:14825558C>A	ENST00000282096.4	+	5	1837	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	PDE3B_ENST00000455098.2_Missense_Mutation_p.S444Y	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	495					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AGGTCATCTTCTGTATCACTG	0.358																																						uc001mln.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1483-1485)tCt>tAt		Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.							85	82	83					11																	14825558		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14825558C>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1484C>A	11.37:g.14825558C>A	ENSP00000282096:p.Ser495Tyr					PDE3B_uc010rcr.2_Missense_Mutation_p.S444Y	p.S495Y	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			4	1837	+			495					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1484C>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504647	0.85176	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.36520	1.25;1.25	5.88	5.88	0.94601	.	3.233620	0.00728	N	0.000920	T	0.69477	0.3115	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.51679	-0.8675	10	0.87932	D	0	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	444;495	B7ZM37;Q13370	.;PDE3B_HUMAN	Y	495;444	ENSP00000282096:S495Y;ENSP00000388644:S444Y	ENSP00000282096:S495Y	S	+	2	0	PDE3B	14782134	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.885000	0.69736	2.780000	0.95670	0.655000	0.94253	TCT		0.358	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		A	14825558	C	A	14825558	3	1	144	1	0	0	0	0	1	0	0	0	11638	913	32	5	1502	5	PDE3B	11	14825558	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	9652866	14825558	120180958	56	9850											
OR4A47	403253	broad.mit.edu	37	chr11	48511019	48511019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcttgcactctttaaagaaCcttagtcagaaagggaggca	14	10	9	8	0	3	2	1	0	2	2	3	3	3	3	1	2	2	2	1	2	5	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:48511019C>A	ENST00000446524.1	+	1	751	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTTTAAAGAACCTTAGTCAGA	0.438																																						uc010rhx.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(673-675)aaC>aaA		Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.							117	112	114					11																	48511019		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511019C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.675C>A	11.37:g.48511019C>A	ENSP00000412752:p.Asn225Lys						p.N225K	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			0	675	+			225						Missense_Mutation	SNP	ENST00000446524.1	37	c.675C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	3.496	-0.102888	0.06967	.	.	ENSG00000237388	ENST00000446524	T	0.00030	8.9	4.59	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.718117	0.13008	N	0.421101	T	0.00109	0.0003	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.05835	-1.0861	9	0.42905	T	0.14	.	7.0165	0.24890	0.0:0.7023:0.0:0.2977	.	225	Q6IF82	O4A47_HUMAN	K	225	ENSP00000412752:N225K	ENSP00000412752:N225K	N	+	3	2	OR4A47	48467595	0.000000	0.05858	0.181000	0.23098	0.125000	0.20455	-3.549000	0.00434	0.911000	0.36747	0.205000	0.17691	AAC		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		A	48511019	C	A	48511019	3	1	144	1	0	0	0	0	1	0	0	0	11042	506	18	5	677	5	OR4A47	11	48511019	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	33685461	48511019	86495497	57	9851											
OR4A5	81318	broad.mit.edu	37	chr11	51412194	51412194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtggaatatgcagcatCtataaatgacaggcaggcaa	15	8	12	6	0	1	1	0	1	1	0	1	2	1	2	0	4	2	5	0	4	7	4	rs541242060	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:51412194C>A	ENST00000319760.6	-	1	254	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGCAGCATCTATAAATGAC	0.438													.|||	2	0.000399361	0	0	5008	,	,		20105	0		0	False		,,,				2504	0.002					uc001nhi.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(202-204)Gat>Tat		Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.							59	59	59					11																	51412194		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412194C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.202G>T	11.37:g.51412194C>A	ENSP00000367664:p.Asp68Tyr						p.D68Y	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			0	255	-		all_lung(304;0.236)	68					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.202G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.182	0.794054	0.16327	.	.	ENSG00000221840	ENST00000319760	T	0.01185	5.21	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000160	T	0.11110	0.0271	H	0.98612	4.28	0.20975	N	0.999813	D	0.89917	1.0	D	0.72625	0.978	T	0.09443	-1.0674	10	0.87932	D	0	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	68	Q8NH83	OR4A5_HUMAN	Y	68	ENSP00000367664:D68Y	ENSP00000367664:D68Y	D	-	1	0	OR4A5	51268770	0.670000	0.27512	0.981000	0.43875	0.048000	0.14542	2.853000	0.48317	1.394000	0.46624	0.162000	0.16502	GAT		0.438	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		A	51412194	C	A	51412194	3	1	144	1	0	0	0	0	1	0	0	0	11043	913	32	5	749	5	OR4A5	11	51412194	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	2901175	51412194	83594322	58	9852											
OR8I2	120586	broad.mit.edu	37	chr11	55861592	55861592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatcgctgacccaggCgcaggtggcatctgtattct	8	10	10	13	2	3	1	1	1	2	0	4	1	3	1	1	3	0	4	1	3	1	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:55861592C>T	ENST00000302124.2	+	1	840	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453																																						uc010rix.2																			0		p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gCg>gTg		Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.							91	89	89					11																	55861592		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861592C>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.809C>T	11.37:g.55861592C>T	ENSP00000303864:p.Ala270Val						p.A270V	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			0	809	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.809C>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437013	0.25900	.	.	ENSG00000172154	ENST00000302124	T	0.00590	6.36	4.33	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001173	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55909	-0.8066	10	0.72032	D	0.01	-6.5477	6.1554	0.20334	0.3316:0.5743:0.0:0.0942	.	270	Q8N0Y5	OR8I2_HUMAN	V	270	ENSP00000303864:A270V	ENSP00000303864:A270V	A	+	2	0	OR8I2	55618168	0.000000	0.05858	0.927000	0.36925	0.393000	0.30537	-0.126000	0.10563	0.889000	0.36185	0.440000	0.28878	GCG		0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		T	55861592	C	T	55861592	3	4	144	1	0	0	0	0	1	0	0	0	11240	768	27	1	811	1	OR8I2	11	55861592	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	4449398	55861592	79144924	59	9853											
FAT3	120114	broad.mit.edu	37	chr11	92532113	92532113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaaagaagccatggacagCggcctccactttacacaaag	14	7	9	11	1	0	1	0	0	0	1	1	2	1	2	3	2	3	1	3	2	5	3	rs371269485		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:92532113C>T	ENST00000298047.6	+	9	5951	c.5934C>T	c.(5932-5934)agC>agT	p.S1978S	FAT3_ENST00000525166.1_Silent_p.S1828S|FAT3_ENST00000409404.2_Silent_p.S1978S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1978	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATGGACAGCGGCCTCCACT	0.433										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5932-5934)agC>agT		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.		C		0,3892		0,0,1946	161	157	158		5934	-6.6	0.8	11		158	1,8263		0,1,4131	no	coding-synonymous	FAT3	NM_001008781.2		0,1,6077	TT,TC,CC		0.0121,0.0,0.0082		1978/4558	92532113	1,12155	1946	4132	6078	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532113C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5934C>T	11.37:g.92532113C>T		TCGA Ovarian(4;0.039)					p.S1978S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	5951	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1978			Cadherin 17.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5934C>T																																																																																					0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92532113	C	T	92532113	2	4	144	1	0	0	0	0	0	0	0	1	5691	767	27	1		1	FAT3	11	92532113	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	36670521	92532113	42474403	60	9854											
CLEC1A	51267	broad.mit.edu	37	chr12	10233990	10233990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtcttgaccagtattGgagagctggtagtactgaaa	11	12	13	5	0	1	3	0	2	1	1	1	4	1	3	1	3	2	4	1	3	4	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:10233990G>T	ENST00000315330.4	-	3	299	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CLEC1A_ENST00000457018.2_Silent_p.S46S|RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	79					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACCAGTATTGGAGAGCTGGT	0.383																																						uc001qxb.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(235-237)tcC>tcA		Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.							103	103	103					12																	10233990		2203	4300	6503	SO:0001819	synonymous_variant	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10233990G>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.237C>A	12.37:g.10233990G>T						CLEC1A_uc001qxd.3_Silent_p.S36S|CLEC1A_uc010sgx.2_Intron	p.S79S	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			2	321	-			79					Q8IUW7|Q9NZH3	Silent	SNP	ENST00000315330.4	37	c.237C>A	CCDS8612.1																																																																																				0.383	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		T	10233990	G	T	10233990	2	4	144	1	0	0	0	0	0	0	0	1	3505	1335	47	5		5	CLEC1A	12	10233990	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		10233990	123617905	61	9855											
PRB1	5542	broad.mit.edu	37	chr12	11506753	11506753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtggtccttgtggttttCctggaggagatcggggactt	4	13	18	6	1	0	1	0	0	0	1	3	4	2	3	2	8	0	1	2	8	0	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:11506753C>A	ENST00000500254.2	-	3	321	c.284G>T	c.(283-285)gGa>gTa	p.G95V	PRB1_ENST00000545626.1_Missense_Mutation_p.G95V|PRB1_ENST00000546254.1_Missense_Mutation_p.G95V	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	34	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGTTTTCCTGGAGGAGA	0.607																																						uc001qzw.1																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(283-285)gGa>gTa		Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.							177	222	206					12																	11506753		2160	4271	6431	SO:0001583	missense	5542					extracellular region		g.chr12:11506753C>A		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.284G>T	12.37:g.11506753C>A	ENSP00000420826:p.Gly95Val					PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	p.G95V	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	321	-			95		Missing (in allele M).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.284G>T	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	6.467	0.454361	0.12283	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.07800	3.52;3.16;3.16	1.19	0.144	0.14824	.	.	.	.	.	T	0.14313	0.0346	M	0.76838	2.35	0.09310	N	1	P;D;D	0.62365	0.946;0.991;0.991	B;P;P	0.48840	0.271;0.592;0.495	T	0.13045	-1.0524	9	0.66056	D	0.02	.	4.9816	0.14168	0.0:0.7352:0.0:0.2648	.	102;95;95	Q86YA1;G3V1R1;G3V1M9	.;.;.	V	95	ENSP00000444249:G95V;ENSP00000420826:G95V;ENSP00000442127:G95V	ENSP00000420826:G95V	G	-	2	0	PRB1	11398020	0.000000	0.05858	0.008000	0.14137	0.048000	0.14542	-0.031000	0.12287	0.047000	0.15862	0.400000	0.26472	GGA		0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		A	11506753	C	A	11506753	3	1	144	1	0	0	0	0	1	0	0	0	12442	855	30	5	715	5	PRB1	12	11506753	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	1272763	11506753	122345142	62	9856											
ATP2B1	490	broad.mit.edu	37	chr12	90024361	90024361	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtaaagataattccagtTtgagaatttacacctacagc	16	11	7	7	0	0	2	0	1	0	2	1	3	1	2	2	1	3	2	2	1	7	7			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:90024361T>C	ENST00000428670.3	-	6	1305	c.849A>G	c.(847-849)caA>caG	p.Q283Q	ATP2B1_ENST00000348959.3_Silent_p.Q283Q|ATP2B1_ENST00000261173.2_Silent_p.Q283Q|ATP2B1_ENST00000359142.3_Silent_p.Q283Q|ATP2B1_ENST00000393164.2_Silent_p.Q26Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	283					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGTTTGAGAATTTA	0.328																																						uc001tbh.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(847-849)caA>caG		Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.							86	81	83					12																	90024361		2203	4299	6502	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90024361T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.849A>G	12.37:g.90024361T>C						ATP2B1_uc001tbg.3_Silent_p.Q283Q	p.Q283Q	NM_001682	NP_001673	P20020	AT2B1_HUMAN			4	1030	-			283					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.849A>G	CCDS9035.1																																																																																				0.328	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		C	90024361	T	C	90024361	2	2	144	1	0	0	0	0	0	0	0	1	1139	1838	64	4		4	ATP2B1	12	90024361	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	78517608	90024361	43827534	63	9857											
IGF1	3479	broad.mit.edu	37	chr12	102869429	102869429	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctacttactgaaataaAagcccctgtctccacacacg	13	8	7	13	1	1	1	0	1	1	0	2	1	1	1	3	1	3	1	3	1	5	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:102869429A>C	ENST00000307046.8	-	2	393	c.212T>G	c.(211-213)tTt>tGt	p.F71C	IGF1_ENST00000456098.1_Missense_Mutation_p.F71C|IGF1_ENST00000424202.2_Missense_Mutation_p.F55C|IGF1_ENST00000337514.6_Missense_Mutation_p.F71C|IGF1_ENST00000392904.1_Missense_Mutation_p.F71C	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	71	B.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTGAAATAAAAGCCCCTGTC	0.537																																						uc001tjp.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						c.(211-213)tTt>tGt		Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.							69	73	72					12																	102869429		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102869429A>C	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"Endogenous ligands"	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.212T>G	12.37:g.102869429A>C	ENSP00000302665:p.Phe71Cys					IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	p.F71C	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			1	431	-			71			B.		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.212T>G	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262244	0.59431	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.19	5.19	0.71726	Insulin-like (4);	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	H	0.95365	3.66	0.80722	D	1	D;B;B;B	0.89917	1.0;0.285;0.002;0.314	D;B;B;B	0.91635	0.999;0.178;0.01;0.22	D	0.96151	0.9108	10	0.87932	D	0	-24.6375	15.3479	0.74355	1.0:0.0:0.0:0.0	.	71;102;55;71	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	C	71;71;71;55;52;71	ENSP00000394999:F71C;ENSP00000337612:F71C;ENSP00000376637:F71C;ENSP00000416811:F55C;ENSP00000376638:F52C;ENSP00000302665:F71C	ENSP00000302665:F71C	F	-	2	0	IGF1	101393559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.084000	0.62774	0.533000	0.62120	TTT		0.537	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		C	102869429	A	C	102869429	3	2	144	1	0	0	0	0	1	0	0	0	7570	14	1	5	451	5	IGF1	12	102869429	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	12845068	102869429	30982466	64	9858											
ANAPC7	51434	broad.mit.edu	37	chr12	110825638	110825638	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagttaggcacggtttGgatcacattcattgtcatgg	9	13	11	8	1	3	0	3	0	0	0	4	1	4	1	1	4	0	3	1	4	2	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:110825638G>A	ENST00000455511.3	-	5	682	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.Q228*|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GGCACGGTTTGGATCACATTC	0.463																																						uc001tqo.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(682-684)Caa>Taa		Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.							132	101	112					12																	110825638		2203	4300	6503	SO:0001587	stop_gained	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110825638G>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.682C>T	12.37:g.110825638G>A	ENSP00000394394:p.Gln228*					ANAPC7_uc001tqp.4_Nonsense_Mutation_p.Q228*	p.Q228*	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			4	683	-			228					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	c.682C>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	37	6.091382	0.97276	.	.	ENSG00000196510;ENSG00000196510;ENSG00000258210	ENST00000455511;ENST00000450008;ENST00000550231	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-28.4278	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	228;228;127	.	ENSP00000402314:Q228X	Q	-	1	0	RP11-478C19.2;ANAPC7	109310021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.471000	0.97696	2.880000	0.98712	0.650000	0.86243	CAA		0.463	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		A	110825638	G	A	110825638	4	1	144	1	0	0	0	0	0	1	0	0	606	1357	47	3	1149	3	ANAPC7	12	110825638	Nonsense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	7956209	110825638	23026257	65	9859											
PTPN11	5781	broad.mit.edu	37	chr12	112926900	112926900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcagggatggtccagaCagaagcacagtaccgattta	13	7	13	8	1	1	2	1	0	0	2	2	5	2	3	2	3	2	2	2	3	3	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:112926900C>A	ENST00000351677.2	+	13	1718	c.1520C>A	c.(1519-1521)aCa>aAa	p.T507K		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	511	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		G -> A (in JMML). {ECO:0000269|PubMed:12717436}.|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia). {ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:12960218}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.T507K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGGTCCAGACAGAAGCACAG	0.478			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													uc001ttx.3				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		1	Substitution - Missense(1)	p.T507K(4)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM090464	PTPN11	M		c.(1519-1521)aCa>aAa		Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.							181	169	173					12																	112926900		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926900C>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1520C>A	12.37:g.112926900C>A	ENSP00000340944:p.Thr507Lys						p.T507K	NM_002834	NP_002825	Q06124	PTN11_HUMAN			12	1900	+			511		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1520C>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347534	0.95807	.	.	ENSG00000179295	ENST00000351677	D	0.99436	-5.9	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98769	4.325	0.80722	D	1	D	0.65815	0.995	D	0.66602	0.945	D	0.96908	0.9665	10	0.87932	D	0	.	18.9358	0.92584	0.0:1.0:0.0:0.0	.	507	Q06124-2	.	K	507	ENSP00000340944:T507K	ENSP00000340944:T507K	T	+	2	0	PTPN11	111411283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.553000	0.86117	0.650000	0.86243	ACA		0.478	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			A	112926900	C	A	112926900	3	1	144	1	0	0	0	0	1	0	0	0	12780	478	17	5	1570	5	PTPN11	12	112926900	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	2101262	112926900	20924995	66	9860											
RBM19	9904	broad.mit.edu	37	chr12	114383718	114383718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgaatagtgtgttcCagttgtgagagctaagaggc	10	10	13	8	0	0	3	0	2	0	2	1	4	1	3	3	1	1	3	3	1	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:114383718C>A	ENST00000545145.2	-	13	1619	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	RBM19_ENST00000261741.5_Missense_Mutation_p.W514L|RBM19_ENST00000392561.3_Missense_Mutation_p.W514L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	514					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TAGTGTGTTCCAGTTGTGAGA	0.542																																						uc009zwi.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1540-1542)tGg>tTg		Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.							108	86	93					12																	114383718		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114383718C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1541G>T	12.37:g.114383718C>A	ENSP00000442053:p.Trp514Leu					RBM19_uc001tvn.4_Missense_Mutation_p.W514L|RBM19_uc001tvm.3_Missense_Mutation_p.W514L	p.W514L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN			12	1685	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		514					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1541G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592062	0.86953	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08807	3.05;3.05;3.05	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57825	-0.7744	10	0.66056	D	0.02	-11.8558	17.6635	0.88198	0.0:1.0:0.0:0.0	.	514	Q9Y4C8	RBM19_HUMAN	L	514	ENSP00000442053:W514L;ENSP00000376344:W514L;ENSP00000261741:W514L	ENSP00000261741:W514L	W	-	2	0	RBM19	112868101	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.318000	0.79029	2.165000	0.68154	0.650000	0.86243	TGG		0.542	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		A	114383718	C	A	114383718	3	1	144	1	0	0	0	0	1	0	0	0	13121	595	21	5	1389	5	RBM19	12	114383718	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	1456818	114383718	19468177	67	9861											
TCTN2	79867	broad.mit.edu	37	chr12	124175182	124175182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactataccaagaacgagatGgtattatcaatgcgaagata	18	9	8	6	2	1	3	1	0	0	3	1	5	1	3	1	1	4	1	1	1	10	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124175182G>A	ENST00000303372.5	+	8	1122	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	TCTN2_ENST00000426174.2_Missense_Mutation_p.G331S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	332					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGAACGAGATGGTATTATCAA	0.388																																						uc001ufp.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(994-996)Ggt>Agt		Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.							106	96	100					12																	124175182		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124175182G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.994G>A	12.37:g.124175182G>A	ENSP00000304941:p.Gly332Ser					TCTN2_uc009zya.3_Missense_Mutation_p.G331S	p.G332S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	7	1122	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		332					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.994G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374786	0.24857	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	T;T	0.81247	-1.47;-1.47	5.65	-2.21	0.06973	Domain of unknown function DUF1619 (1);	0.871887	0.10160	N	0.708473	T	0.57198	0.2037	N	0.21097	0.63	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.18871	0.023;0.023	T	0.43956	-0.9359	10	0.07175	T	0.84	.	1.5483	0.02569	0.3964:0.1752:0.2984:0.1299	.	331;332	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	331;332	ENSP00000395171:G331S;ENSP00000304941:G332S	ENSP00000304941:G332S	G	+	1	0	TCTN2	122741135	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.204000	0.09425	-0.279000	0.09167	0.549000	0.68633	GGT		0.388	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		A	124175182	G	A	124175182	3	1	144	1	0	0	0	0	1	0	0	0	15720	1348	47	3	1024	3	TCTN2	12	124175182	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	9791464	124175182	9676713	68	9862											
NCOR2	9612	broad.mit.edu	37	chr12	124915195	124915195	+	Frame_Shift_Del	DEL	G	G	-																															ctgcagctcgcgctgcttgcGgatctcagggaactgcttct																										TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124915195delG	ENST00000405201.1	-	9	1021	c.1021delC	c.(1021-1023)cgcfs	p.R341fs	NCOR2_ENST00000404621.1_Frame_Shift_Del_p.R341fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.R341fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.R341fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.R341fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	341					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCTGCTTGCGGATCTCAGGG	0.672																																						uc021rga.1																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1021-1023)cgcfs		Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.							79	88	85					12																	124915195		2056	4205	6261	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124915195delG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1021delC	12.37:g.124915195delG	ENSP00000384018:p.Arg341fs					NCOR2_uc021rgb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.R341fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs	p.R341fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	8	1138	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		341					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.1021delC	CCDS41858.2																																																																																				0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		-	124915195	G	-	124915195	7	5	144	1	0	1	0	1	0	0	0	0	10236	1116	39	0	6703	0	NCOR2	12	124915195	Frame_Shift_Del	DEL	G	TCGA-14-3476-01B-01D-1353-08	740013	124915195	8936700	69	9863											
HSPH1	10808	broad.mit.edu	37	chr13	31713139	31713139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggagaaaacgacctaccaTtaattcttccaacttgtcaa	14	10	7	10	1	2	1	1	0	1	1	3	3	3	1	3	2	3	0	3	2	6	5	rs548315411		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:31713139T>A	ENST00000320027.5	-	15	2430	c.2086A>T	c.(2086-2088)Atg>Ttg	p.M696L	HSPH1_ENST00000380406.5_Missense_Mutation_p.M655L|HSPH1_ENST00000445273.2_Missense_Mutation_p.M698L|HSPH1_ENST00000429785.2_Missense_Mutation_p.M515L|HSPH1_ENST00000380405.4_Missense_Mutation_p.M652L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	696					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGACCTACCATTAATTCTTCC	0.313													T|||	1	0.000199681	0	0	5008	,	,		18135	0		0	False		,,,				2504	0.001					uc001utl.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2092-2094)Atg>Ttg		Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.							113	99	104					13																	31713139		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31713139T>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2086A>T	13.37:g.31713139T>A	ENSP00000318687:p.Met696Leu					HSPH1_uc001utj.3_Missense_Mutation_p.M696L|HSPH1_uc001utk.3_Missense_Mutation_p.M652L|HSPH1_uc010aaw.3_Missense_Mutation_p.M655L|HSPH1_uc010tds.2_Missense_Mutation_p.M620L	p.M698L	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	14	2363	-		Lung SC(185;0.0257)	696					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2092A>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484776	0.44147	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.7	5.7	0.88788	.	0.217022	0.47455	D	0.000231	T	0.11239	0.0274	N	0.14661	0.345	0.36981	D	0.894318	B;B;B;B;B	0.25667	0.131;0.0;0.016;0.007;0.009	B;B;B;B;B	0.29440	0.102;0.001;0.044;0.026;0.044	T	0.16482	-1.0401	10	0.62326	D	0.03	-17.8554	15.9796	0.80097	0.0:0.0:0.0:1.0	.	515;655;698;652;696	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	L	696;652;655;698;515	ENSP00000318687:M696L;ENSP00000369768:M652L;ENSP00000369769:M655L;ENSP00000396090:M698L;ENSP00000388778:M515L	ENSP00000318687:M696L	M	-	1	0	HSPH1	30611139	1.000000	0.71417	0.878000	0.34440	0.148000	0.21650	7.698000	0.84413	2.185000	0.69588	0.528000	0.53228	ATG		0.313	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			A	31713139	T	A	31713139	3	1	144	1	0	0	0	0	1	0	0	0	7431	1493	52	5	506	5	HSPH1	13	31713139	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08		31713139	83456739	70	9864											
CCDC70	83446	broad.mit.edu	37	chr13	52439731	52439731	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagatgtggactttcCgaggcaagatccatgctttc	10	10	13	8	1	0	2	0	0	0	2	3	6	2	4	2	3	1	2	2	3	2	2	rs200088564		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:52439731C>T	ENST00000242819.4	+	2	513	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	73						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTGGACTTTCCGAGGCAAGAT	0.458																																						uc010tgr.1																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15								Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	59	65	63		217	1.5	0	13		63	1,8599		0,1,4299	yes	stop-gained	CCDC70	NM_031290.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		73/234	52439731	2,13004	2203	4300	6503	SO:0001587	stop_gained	83446					extracellular region|plasma membrane		g.chr13:52439731C>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.217C>T	13.37:g.52439731C>T	ENSP00000242819:p.Arg73*					CCDC70_uc001vfu.4_Nonsense_Mutation_p.R73*|CCDC70_uc021rjv.1_Nonsense_Mutation_p.R73*				Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	0		-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)						Q8N7A8|Q9H097	Nonsense_Mutation	SNP	ENST00000242819.4	37	c.489G>A	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852039	0.51270	2.27E-4	1.16E-4	ENSG00000123171	ENST00000242819	.	.	.	5.26	1.47	0.22746	.	0.386006	0.22473	N	0.059597	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6991	1.7374	0.02944	0.1445:0.4768:0.1406:0.2381	.	.	.	.	X	73	.	ENSP00000242819:R73X	R	+	1	2	CCDC70	51337732	0.122000	0.22280	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.209000	0.20645	-0.302000	0.09304	CGA		0.458	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		T	52439731	C	T	52439731	4	4	144	1	0	0	0	0	0	1	0	0	2843	644	23	2	219	2	CCDC70	13	52439731	Nonsense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	20726592	52439731	62730147	71	9865											
MUDENG	55745	broad.mit.edu	37	chr14	57741370	57741370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgagccagttgcctgaCttgcttctgcaggcttgtcc	7	13	10	11	0	1	2	0	2	1	0	2	2	2	2	3	1	4	4	3	1	1	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:57741370C>A	ENST00000261558.3	+	2	889	c.483C>A	c.(481-483)gaC>gaA	p.D161E	AP5M1_ENST00000431972.2_Missense_Mutation_p.D175E	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	161					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											AGTTGCCTGACTTGCTTCTGC	0.368																																						uc001xcv.3																			0											c.(481-483)gaC>gaA		Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.							60	66	64					14																	57741370		2202	4300	6502	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741370C>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.483C>A	14.37:g.57741370C>A	ENSP00000261558:p.Asp161Glu					AP5M1_uc001xcu.4_Missense_Mutation_p.D161E|AP5M1_uc010tri.2_Intron|AP5M1_uc010trj.2_Missense_Mutation_p.D58E	p.D161E	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			1	910	+			161					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.483C>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	4.898	0.166900	0.09339	.	.	ENSG00000053770	ENST00000261558;ENST00000556995;ENST00000431972	T;T	0.28666	1.61;1.6	5.78	-1.35	0.09114	.	0.642665	0.17842	N	0.160170	T	0.12603	0.0306	L	0.34521	1.04	0.25243	N	0.989739	B;B	0.11235	0.0;0.004	B;B	0.09377	0.0;0.004	T	0.28004	-1.0057	10	0.02654	T	1	.	0.3026	0.00275	0.2945:0.1893:0.1463:0.3699	.	161;161	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	E	161;58;175	ENSP00000261558:D161E;ENSP00000390531:D175E	ENSP00000261558:D161E	D	+	3	2	MUDENG	56811123	0.027000	0.19231	0.996000	0.52242	0.907000	0.53573	-0.514000	0.06298	-0.076000	0.12775	-0.189000	0.12847	GAC		0.368	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		A	57741370	C	A	57741370	3	1	144	1	0	0	0	0	1	0	0	0	9983	564	20	5	489	5	MUDENG	14	57741370	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		57741370	49608170	72	9866											
BCL11B	64919	broad.mit.edu	37	chr14	99641920	99641920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcggctgcgggggcGgcgtgccgccagggggcatg	2	5	23	11	5	0	0	0	0	0	0	0	0	0	0	2	8	2	3	2	8	0	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:99641920G>A	ENST00000357195.3	-	4	1262	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	BCL11B_ENST00000443726.2_Missense_Mutation_p.P224L|BCL11B_ENST00000345514.2_Missense_Mutation_p.P347L	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	418					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGGGGGCGGCGTGCCGCC	0.687			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1252-1254)cCg>cTg		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.							10	13	12					14																	99641920		2155	4249	6404	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641920G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1253C>T	14.37:g.99641920G>A	ENSP00000349723:p.Pro418Leu					BCL11B_uc001ygb.3_Missense_Mutation_p.P347L	p.P418L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1520	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	418					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1253C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140885	0.37825	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.15017	2.52;2.5;2.46	3.87	3.87	0.44632	.	0.268170	0.30011	N	0.010622	T	0.12902	0.0313	N	0.24115	0.695	0.48975	D	0.999731	B;B	0.29646	0.168;0.253	B;B	0.24155	0.051;0.034	T	0.10660	-1.0620	10	0.52906	T	0.07	-11.1909	16.1802	0.81892	0.0:0.0:1.0:0.0	.	347;418	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	L	418;347;224	ENSP00000349723:P418L;ENSP00000280435:P347L;ENSP00000387419:P224L	ENSP00000280435:P347L	P	-	2	0	BCL11B	98711673	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.382000	0.73167	1.875000	0.54330	0.491000	0.48974	CCG		0.687	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		A	99641920	G	A	99641920	3	1	144	1	0	0	0	0	1	0	0	0	1364	1116	39	2	1435	2	BCL11B	14	99641920	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	41900550	99641920	7707620	73	9867											
GABRB3	2562	broad.mit.edu	37	chr15	26828530	26828530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagggggtatctcctgaGgtccatcatgcatgctgctg	6	11	13	11	0	2	1	1	1	1	0	5	1	4	1	3	3	3	4	3	3	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:26828530G>A	ENST00000311550.5	-	5	604	c.493C>T	c.(493-495)Ctc>Ttc	p.L165F	GABRB3_ENST00000545868.1_Missense_Mutation_p.L80F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L94F|GABRB3_ENST00000541819.2_Missense_Mutation_p.L221F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L165F	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	165					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TATCTCCTGAGGTCCATCATG	0.453																																						uc001zbb.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(661-663)Ctc>Ttc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						165	148	154					15																	26828530		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26828530G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.493C>T	15.37:g.26828530G>A	ENSP00000308725:p.Leu165Phe					GABRB3_uc021sgg.1_Missense_Mutation_p.L94F|GABRB3_uc021sgh.1_Missense_Mutation_p.L80F|GABRB3_uc001zaz.3_Missense_Mutation_p.L165F|GABRB3_uc001zba.3_Missense_Mutation_p.L165F	p.L221F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	764	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	165					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.661C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448356	0.26074	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.76	2.88	0.33553	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.996	D	0.84160	0.0428	10	0.54805	T	0.06	.	6.778	0.23630	0.3803:0.0:0.6197:0.0	.	221;165;165	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	F	165;221;165;94;80;80	ENSP00000308725:L165F;ENSP00000442408:L221F;ENSP00000299267:L165F;ENSP00000383049:L94F;ENSP00000439169:L80F;ENSP00000452272:L80F	ENSP00000299267:L165F	L	-	1	0	GABRB3	24379623	1.000000	0.71417	0.982000	0.44146	0.269000	0.26545	3.186000	0.50942	0.544000	0.28883	-0.142000	0.14014	CTC		0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			A	26828530	G	A	26828530	3	1	144	1	0	0	0	0	1	0	0	0	6168	1000	35	3	948	3	GABRB3	15	26828530	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		26828530	75702862	74	9868											
ZNF770	54989	broad.mit.edu	37	chr15	35274803	35274803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtggattattctcctcaGattcaccaatctcaccattt	11	14	4	12	0	4	1	3	0	2	1	6	2	4	2	3	1	0	0	3	1	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:35274803G>C	ENST00000356321.4	-	3	1177	c.833C>G	c.(832-834)tCt>tGt	p.S278C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	278					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTCTCCTCAGATTCACCAAT	0.388																																						uc001ziw.3																			0		p.S278T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(832-834)tCt>tGt		Homo sapiens zinc finger protein 770 (ZNF770), mRNA.							48	49	49					15																	35274803		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274803G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.833C>G	15.37:g.35274803G>C	ENSP00000348673:p.Ser278Cys					ZNF770_uc021siy.1_Missense_Mutation_p.S278C	p.S278C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	2	1187	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	278					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.833C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920050	0.33908	.	.	ENSG00000198146	ENST00000356321	T	0.10477	2.87	5.17	4.23	0.50019	.	0.420049	0.19371	U	0.115905	T	0.09291	0.0229	N	0.19112	0.55	0.22811	N	0.998706	P	0.52463	0.953	P	0.46975	0.533	T	0.14643	-1.0465	10	0.52906	T	0.07	-8.3329	9.0266	0.36234	0.2197:0.0:0.7803:0.0	.	278	Q6IQ21	ZN770_HUMAN	C	278	ENSP00000348673:S278C	ENSP00000348673:S278C	S	-	2	0	ZNF770	33062095	0.058000	0.20735	1.000000	0.80357	0.945000	0.59286	2.139000	0.42149	2.677000	0.91161	0.655000	0.94253	TCT		0.388	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		C	35274803	G	C	35274803	3	2	144	1	0	0	0	0	1	0	0	0	18140	942	33	5	1246	5	ZNF770	15	35274803	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	8446273	35274803	67256589	75	9869											
UACA	55075	broad.mit.edu	37	chr15	70957092	70957092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccacttgtgtaggtgAgttgggaaaggccattgagt	8	12	15	6	0	0	2	0	2	0	0	1	3	1	3	2	4	0	3	2	4	2	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:70957092A>T	ENST00000322954.6	-	17	4207	c.4022T>A	c.(4021-4023)cTc>cAc	p.L1341H	UACA_ENST00000539319.1_Missense_Mutation_p.L1232H|UACA_ENST00000560441.1_Missense_Mutation_p.L1326H|UACA_ENST00000379983.2_Missense_Mutation_p.L1328H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1341					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTGTAGGTGAGTTGGGAAAG	0.433																																						uc002asr.3																			0		p.Q1341H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(4021-4023)cTc>cAc		Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.							140	119	126					15																	70957092		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70957092A>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4022T>A	15.37:g.70957092A>T	ENSP00000314556:p.Leu1341His					UACA_uc010uke.2_Missense_Mutation_p.L1232H|UACA_uc002asq.3_Missense_Mutation_p.L1328H	p.L1341H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	4126	-			1341					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.4022T>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665403	0.67700	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.61627	0.09;0.09;0.09	6.07	3.73	0.42828	Target SNARE coiled-coil domain (1);	0.107337	0.41938	D	0.000784	T	0.71962	0.3402	M	0.77103	2.36	0.51767	D	0.999936	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.983;0.994;0.994	T	0.73056	-0.4103	10	0.87932	D	0	-3.7257	7.4229	0.27081	0.7837:0.1445:0.0717:0.0	.	1232;1341;1328	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	H	1341;1328;1232	ENSP00000314556:L1341H;ENSP00000369319:L1328H;ENSP00000438667:L1232H	ENSP00000314556:L1341H	L	-	2	0	UACA	68744146	1.000000	0.71417	0.420000	0.26596	0.759000	0.43091	5.166000	0.64965	1.072000	0.40860	0.533000	0.62120	CTC		0.433	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	70957092	A	T	70957092	3	4	144	1	0	0	0	0	1	0	0	0	16821	304	11	5	240	5	UACA	15	70957092	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	35682289	70957092	31574300	76	9870											
C16orf45	89927	broad.mit.edu	37	chr16	15609227	15609227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagattgagctggagatgGcaaaaattcagcgtctccgg	12	8	14	7	2	2	3	1	1	1	2	3	5	2	3	1	4	2	2	1	4	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:15609227G>A	ENST00000300006.4	+	2	531	c.172G>A	c.(172-174)Gca>Aca	p.A58T	C16orf45_ENST00000566490.1_Missense_Mutation_p.A58T|C16orf45_ENST00000452191.2_Missense_Mutation_p.A41T|C16orf45_ENST00000561692.1_Missense_Mutation_p.A10T	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	58										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCTGGAGATGGCAAAAATTCA	0.527																																						uc002ddo.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(172-174)Gca>Aca		Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.							131	111	117					16																	15609227		2197	4300	6497	SO:0001583	missense	89927							g.chr16:15609227G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.172G>A	16.37:g.15609227G>A	ENSP00000300006:p.Ala58Thr					C16orf45_uc002ddp.3_Missense_Mutation_p.A41T	p.A58T	NM_033201	NP_149978	Q96MC5	CP045_HUMAN			1	358	+			58					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.172G>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734295	0.48939	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.41065	1.01;1.01	5.14	5.14	0.70334	Domain of unknown function DUF3585 (1);	0.285343	0.38663	N	0.001620	T	0.30947	0.0781	L	0.33485	1.01	0.39794	D	0.972472	B;B	0.14012	0.001;0.009	B;B	0.15484	0.012;0.013	T	0.13045	-1.0524	10	0.37606	T	0.19	0.5525	9.6811	0.40070	0.0952:0.0:0.9048:0.0	.	2;58	B4DE25;Q96MC5	.;CP045_HUMAN	T	58;41	ENSP00000300006:A58T;ENSP00000408976:A41T	ENSP00000300006:A58T	A	+	1	0	C16orf45	15516728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.283000	0.58977	2.356000	0.79943	0.655000	0.94253	GCA		0.527	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		A	15609227	G	A	15609227	3	1	144	1	0	0	0	0	1	0	0	0	1814	1203	42	3	237	3	C16orf45	16	15609227	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		15609227	74745526	77	9871											
ATP2A1	487	broad.mit.edu	37	chr16	28913648	28913648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcatggaccgccccccccGgagccccaaggagcccctca	8	3	9	21	2	2	0	2	0	0	0	2	3	2	3	9	3	2	0	9	3	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:28913648G>A	ENST00000357084.3	+	17	2732	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R822Q|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R697Q	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	822					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCCCCCCCGGAGCCCCAAG	0.657																																						uc002dro.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2464-2466)cGg>cAg		Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.							50	60	57					16																	28913648		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913648G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2465G>A	16.37:g.28913648G>A	ENSP00000349595:p.Arg822Gln					NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R822Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R697Q	p.R822Q	NM_173201	NP_775293	O14983	AT2A1_HUMAN			16	2649	+			822					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2465G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465288	0.96257	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96940	-4.18;-4.18;-2.38	4.83	4.83	0.62350	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	M	0.93550	3.43	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.995	D	0.99643	1.0989	10	0.87932	D	0	.	16.8289	0.85939	0.0:0.0:1.0:0.0	.	697;822;822	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	822;822;697	ENSP00000349595:R822Q;ENSP00000378879:R822Q;ENSP00000443101:R697Q	ENSP00000349595:R822Q	R	+	2	0	ATP2A1	28821149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.565000	0.98154	2.501000	0.84356	0.561000	0.74099	CGG		0.657	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		A	28913648	G	A	28913648	3	1	144	1	0	0	0	0	1	0	0	0	1136	1116	39	2	2531	2	ATP2A1	16	28913648	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	13304421	28913648	61441105	78	9872											
DHRS7C	201140	broad.mit.edu	37	chr17	9684903	9684903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacctgtgtggaacacccGagcacactctgtggggaaga	10	6	12	13	1	1	1	0	0	1	1	1	4	1	3	3	3	2	1	3	3	2	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:9684903G>A	ENST00000330255.5	-	2	175	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R55W	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	55					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGAACACCCGAGCACACTCT	0.547																																						uc010vvb.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(163-165)Cgg>Tgg		Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.							66	69	68					17																	9684903		1976	4157	6133	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684903G>A		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.163C>T	17.37:g.9684903G>A	ENSP00000327975:p.Arg55Trp					DHRS7C_uc010cof.3_Missense_Mutation_p.R55W	p.R55W	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN			1	176	-			55					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.163C>T	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880910	0.72294	.	.	ENSG00000184544	ENST00000330255	D	0.90261	-2.64	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.061993	0.64402	D	0.000003	D	0.94918	0.8357	M	0.82923	2.615	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.73708	0.979;0.981	D	0.95204	0.8319	10	0.72032	D	0.01	.	12.2939	0.54833	0.0:0.0:0.8303:0.1697	.	55;52	A6NNS2;B9EJH3	DRS7C_HUMAN;.	W	55	ENSP00000327975:R55W	ENSP00000327975:R55W	R	-	1	2	DHRS7C	9625628	0.431000	0.25546	0.984000	0.44739	0.963000	0.63663	1.921000	0.40035	2.354000	0.79902	0.557000	0.71058	CGG		0.547	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		A	9684903	G	A	9684903	3	1	144	1	0	0	0	0	1	0	0	0	4497	1057	37	2	792	2	DHRS7C	17	9684903	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		9684903	71510307	79	9873											
MAP2K3	5606	broad.mit.edu	37	chr17	21206533	21206533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgcacagcaagctgtcGgtgatccacagaggtcagtg	10	8	12	11	1	2	2	1	1	1	1	4	2	3	2	1	2	3	3	1	2	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:21206533G>A	ENST00000342679.4	+	7	804	c.555G>A	c.(553-555)tcG>tcA	p.S185S	MAP2K3_ENST00000316920.6_Silent_p.S156S|MAP2K3_ENST00000361818.5_Silent_p.S156S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCAAGCTGTCGGTGATCCACA	0.622																																						uc002gys.3																			0											c.(553-555)tcG>tcA		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.							49	41	44					17																	21206533		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21206533G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.555G>A	17.37:g.21206533G>A						MAP2K3_uc002gyt.3_Silent_p.S156S|MAP2K3_uc021tsq.1_Silent_p.S156S|MAP2K3_uc021tsr.1_Silent_p.S156S	p.S185S	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	6	820	+			185			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.555G>A	CCDS11217.1																																																																																				0.622	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		A	21206533	G	A	21206533	2	1	144	1	0	0	0	0	0	0	0	1	9238	1103	39	2		2	MAP2K3	17	21206533	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	11521630	21206533	59988677	80	9874											
MYO18A	399687	broad.mit.edu	37	chr17	27422043	27422043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcttctcccgctgggCctcctcatgcgcctgcgaga	4	9	11	17	3	2	1	1	0	1	1	4	2	3	1	4	1	4	3	4	1	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:27422043C>A	ENST00000527372.1	-	29	4600	c.4420G>T	c.(4420-4422)Gcc>Tcc	p.A1474S	MYO18A_ENST00000354329.4_Missense_Mutation_p.A1474S|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1474S|MYO18A_ENST00000533112.1_Missense_Mutation_p.A1474S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1474					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGCTGGGCCTCCTCATGC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4420-4422)Gcc>Tcc		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							15	17	16					17																	27422043		2097	4223	6320	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27422043C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4420G>T	17.37:g.27422043C>A	ENSP00000437073:p.Ala1474Ser					MYO18A_uc010wbc.1_Missense_Mutation_p.A1016S|MYO18A_uc002hds.2_Missense_Mutation_p.A1016S|MYO18A_uc010csa.1_Missense_Mutation_p.A1474S|MYO18A_uc002hdu.1_Missense_Mutation_p.A1474S|MYO18A_uc010wbd.1_Missense_Mutation_p.A1143S	p.A1474S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		28	4578	-			1474					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4420G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360554	0.24598	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.8	1.19	0.21007	Myosin tail (1);	0.382704	0.31747	N	0.007137	T	0.17746	0.0426	N	0.17474	0.49	0.25196	N	0.990091	B;B;B;B;B	0.27068	0.003;0.073;0.167;0.021;0.078	B;B;B;B;B	0.30716	0.006;0.033;0.053;0.033;0.119	T	0.24548	-1.0157	10	0.20519	T	0.43	.	11.296	0.49277	0.0:0.6124:0.0:0.3876	.	1143;1086;1474;1474;1474	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	S	1474;1474;1474;1474;1474;370;370;1086	ENSP00000346291:A1474S;ENSP00000435932:A1474S;ENSP00000434228:A1474S;ENSP00000437073:A1474S	ENSP00000346291:A1474S	A	-	1	0	MYO18A	24446169	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.693000	0.37742	0.383000	0.24910	0.655000	0.94253	GCC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		A	27422043	C	A	27422043	3	1	144	1	0	0	0	0	1	0	0	0	10065	739	26	5	1800	5	MYO18A	17	27422043	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	6215510	27422043	53773167	81	9875											
IKZF3	22806	broad.mit.edu	37	chr17	37922611	37922611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtctggaccaaggggCgcagggcttcggcgccaaga	7	5	18	11	4	1	1	0	0	1	1	2	2	1	2	2	6	0	2	2	6	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:37922611C>T	ENST00000346872.3	-	8	1023	c.962G>A	c.(961-963)cGc>cAc	p.R321H	IKZF3_ENST00000535189.1_Missense_Mutation_p.R287H|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000350532.3_Missense_Mutation_p.R282H|IKZF3_ENST00000583368.1_Missense_Mutation_p.R74H|IKZF3_ENST00000377945.3_Missense_Mutation_p.R187H|IKZF3_ENST00000377944.3_Missense_Mutation_p.R178H|IKZF3_ENST00000467757.1_Missense_Mutation_p.R265H|IKZF3_ENST00000351680.3_Missense_Mutation_p.R282H|IKZF3_ENST00000394189.2_Missense_Mutation_p.R139H|IKZF3_ENST00000377958.2_Missense_Mutation_p.R234H|IKZF3_ENST00000439167.2_Missense_Mutation_p.R248H|IKZF3_ENST00000346243.3_Missense_Mutation_p.R243H|IKZF3_ENST00000439016.2_Missense_Mutation_p.R226H|IKZF3_ENST00000377952.2_Missense_Mutation_p.R100H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	321				R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431). {ECO:0000305}.	B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GACCAAGGGGCGCAGGGCTTC	0.547																																						uc002hsu.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(961-963)cGc>cAc		Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.							94	87	89					17																	37922611		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922611C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.962G>A	17.37:g.37922611C>T	ENSP00000344544:p.Arg321His					IKZF3_uc002htd.3_Missense_Mutation_p.R287H|IKZF3_uc010cwd.3_Missense_Mutation_p.R178H|IKZF3_uc002hsv.3_Missense_Mutation_p.R248H|IKZF3_uc010cwe.3_Missense_Mutation_p.R187H|IKZF3_uc010cwf.3_Missense_Mutation_p.R139H|IKZF3_uc010cwg.3_Missense_Mutation_p.R100H|IKZF3_uc002hsw.3_Missense_Mutation_p.R282H|IKZF3_uc002hsx.3_Missense_Mutation_p.R265H|IKZF3_uc002hsy.3_Missense_Mutation_p.R282H|IKZF3_uc002hsz.3_Missense_Mutation_p.R226H|IKZF3_uc002hta.3_Missense_Mutation_p.R243H|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.R234H|IKZF3_uc002htc.3_Missense_Mutation_p.R74H|IKZF3_uc010wel.2_Missense_Mutation_p.R74H	p.R321H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1024	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		321	R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).				B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.962G>A	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694887|4.694887	0.88830|0.88830	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.11385	.|2.98;3.04;2.82;2.78;3.14;3.04;3.17;3.19;3.09;4.01	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.32466|0.32466	0.0830|0.0830	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.961;0.999;1.0;1.0;0.999	.|D;D;D;D;D;D;D;D;P;D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.999;0.999;0.99;0.998;0.999;0.479;0.989;0.998;0.998;0.95	T|T	0.00253|0.00253	-1.1875|-1.1875	5|10	.|0.26408	.|T	.|0.33	-21.3391|-21.3391	20.3053|20.3053	0.98627|0.98627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|234;100;139;187;178;287;243;226;282;265;282;248;321	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	T|H	236;275|321;226;187;139;178;234;100;287;282;243;282;265	.|ENSP00000367180:R187H;ENSP00000377741:R139H;ENSP00000367179:R178H;ENSP00000367194:R234H;ENSP00000367188:R100H;ENSP00000438972:R287H;ENSP00000345622:R282H;ENSP00000341977:R243H;ENSP00000344471:R282H;ENSP00000420463:R265H	.|ENSP00000341977:R243H	A|R	-|-	1|2	0|0	IKZF3|IKZF3	35176137|35176137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.818000|7.818000	0.86416|0.86416	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		T	37922611	C	T	37922611	3	4	144	1	0	0	0	0	1	0	0	0	7616	768	27	1	571	1	IKZF3	17	37922611	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	10500568	37922611	43272599	82	9876											
APCDD1	147495	broad.mit.edu	37	chr18	10471619	10471619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaattttattatggcaGcaaccggtgcacaaatccca	13	10	6	12	1	0	0	0	0	0	0	1	0	1	0	3	2	4	3	3	2	6	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr18:10471619G>A	ENST00000355285.5	+	3	689	c.335G>A	c.(334-336)aGc>aAc	p.S112N	APCDD1_ENST00000578882.1_Missense_Mutation_p.S112N	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TATTATGGCAGCAACCGGTGC	0.532																																						uc002kom.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(334-336)aGc>aAc		Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.							76	74	74					18																	10471619		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471619G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.335G>A	18.37:g.10471619G>A	ENSP00000347433:p.Ser112Asn						p.S112N	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	2	689	+			112						Missense_Mutation	SNP	ENST00000355285.5	37	c.335G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045184	0.36085	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.15952	2.38	5.3	5.3	0.74995	.	0.135896	0.64402	D	0.000002	T	0.07324	0.0185	N	0.02011	-0.69	0.31769	N	0.632333	B	0.02656	0.0	B	0.04013	0.001	T	0.06197	-1.0840	10	0.41790	T	0.15	-38.5865	12.3259	0.55011	0.0779:0.0:0.9221:0.0	.	112	Q8J025	APCD1_HUMAN	N	112;163	ENSP00000347433:S112N	ENSP00000347433:S112N	S	+	2	0	APCDD1	10461619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.099000	0.76981	2.477000	0.83638	0.655000	0.94253	AGC		0.532	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		A	10471619	G	A	10471619	3	1	144	1	0	0	0	0	1	0	0	0	765	971	34	3	345	3	APCDD1	18	10471619	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		10471619	67605629	83	9877											
MUC16	94025	broad.mit.edu	37	chr19	9084743	9084743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagctcatttgttttccGtgcgtcaaggatatctgagg	7	13	14	7	2	3	1	2	1	1	0	4	3	4	3	1	4	2	2	1	4	2	4	rs372186047		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:9084743G>T	ENST00000397910.4	-	1	7275	c.7072C>A	c.(7072-7074)Cgg>Agg	p.R2358R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2358	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTTTTCCGTGCGTCAAGG	0.433																																						uc002mkp.3																			0		p.R2358P(1)|p.R2358L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(7072-7074)Cgg>Agg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							154	151	152					19																	9084743		1938	4142	6080	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084743G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7072C>A	19.37:g.9084743G>T							p.R2358R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	7276	-			2358			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.7072C>A	CCDS54212.1																																																																																				0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9084743	G	T	9084743	2	4	144	1	0	0	0	0	0	0	0	1	9973	1144	40	5		5	MUC16	19	9084743	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		9084743	50044240	84	9878											
SMARCA4	6597	broad.mit.edu	37	chr19	11136160	11136160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcggaagatctgcaaccaCccctacatgttccagcacat	11	8	7	15	1	1	1	0	0	1	1	2	2	2	2	4	1	5	3	4	1	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:11136160C>T	ENST00000429416.3	+	23	3425	c.3144C>T	c.(3142-3144)caC>caT	p.H1048H	SMARCA4_ENST00000413806.3_Silent_p.H1048H|SMARCA4_ENST00000541122.2_Silent_p.H1048H|SMARCA4_ENST00000344626.4_Silent_p.H1048H|SMARCA4_ENST00000358026.2_Silent_p.H1048H|SMARCA4_ENST00000444061.3_Silent_p.H1048H|SMARCA4_ENST00000450717.3_Silent_p.H1048H|SMARCA4_ENST00000589677.1_Silent_p.H1048H|SMARCA4_ENST00000590574.1_Silent_p.H1048H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1048					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTGCAACCACCCCTACATGT	0.617			"F, N, Mis"		NSCLC																																	uc010dxp.3				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3142-3144)caC>caT		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.							109	88	95					19																	11136160		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11136160C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3144C>T	19.37:g.11136160C>T						SMARCA4_uc010dxo.3_Silent_p.H1048H|SMARCA4_uc002mqf.4_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.3_Silent_p.H1048H|SMARCA4_uc010dxr.3_Silent_p.H1048H|SMARCA4_uc002mqj.4_Silent_p.H1048H|SMARCA4_uc010dxs.3_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.4_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	p.H1048H	NM_001128844	NP_003063	P51532	SMCA4_HUMAN			22	3504	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1048					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.3144C>T	CCDS12253.1																																																																																				0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11136160	C	T	11136160	2	4	144	1	0	0	0	0	0	0	0	1	14770	506	18	3		3	SMARCA4	19	11136160	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	2051417	11136160	47992823	85	9879											
CCDC8	83987	broad.mit.edu	37	chr19	46915568	46915568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcggcggcgggcaggcGgcgcgctgggctgcttctcc	2	6	19	14	7	1	1	0	1	1	0	2	1	1	1	1	6	1	4	1	6	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:46915568G>A	ENST00000307522.3	-	1	1273	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	167					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCGGGCAGGCGGCGCGCTGGG	0.647																																						uc002pep.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(499-501)cCg>cTg		Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.							32	36	35					19																	46915568		2202	4300	6502	SO:0001583	missense	83987					plasma membrane		g.chr19:46915568G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.500C>T	19.37:g.46915568G>A	ENSP00000303158:p.Pro167Leu						p.P167L	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	0	1352	-			167					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.500C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745933	0.30955	.	.	ENSG00000169515	ENST00000307522	T	0.22539	1.95	4.66	-0.662	0.11413	.	0.360955	0.20390	N	0.093266	T	0.15046	0.0363	M	0.62723	1.935	0.09310	N	1	P	0.46327	0.876	B	0.31495	0.131	T	0.20940	-1.0260	10	0.72032	D	0.01	-2.4472	8.515	0.33239	0.0:0.1345:0.2594:0.6061	.	167	Q9H0W5	CCDC8_HUMAN	L	167	ENSP00000303158:P167L	ENSP00000303158:P167L	P	-	2	0	CCDC8	51607408	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.690000	0.25451	0.179000	0.19938	0.655000	0.94253	CCG		0.647	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		A	46915568	G	A	46915568	3	1	144	1	0	0	0	0	1	0	0	0	2853	1116	39	2	1120	2	CCDC8	19	46915568	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	35779408	46915568	12213415	86	9880											
PRKCG	5582	broad.mit.edu	37	chr19	54401216	54401216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctcctttccacagcggGtgcggatgggcccctcttcc	3	12	10	16	2	2	0	0	0	2	0	5	1	4	1	5	3	2	0	5	3	0	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:54401216G>A	ENST00000263431.3	+	10	1225	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	PRKCG_ENST00000536044.1_Silent_p.G285G|PRKCG_ENST00000542049.1_Missense_Mutation_p.V202M|PRKCG_ENST00000540413.1_Missense_Mutation_p.V315M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	315				RVRM -> VSRT (in Ref. 5; AAA60102). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCCACAGCGGGTGCGGATGGG	0.582																																						uc002qcq.1																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(943-945)Gtg>Atg		Homo sapiens protein kinase C, gamma (PRKCG), mRNA.							113	117	115					19																	54401216		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401216G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.943G>A	19.37:g.54401216G>A	ENSP00000263431:p.Val315Met					PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	p.V315M	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	9	1225	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		315	RVRM -> VSRT (in Ref. 3; AAA60102).				B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.943G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786824	0.49997	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.70749	-0.51;-0.51;-0.49	5.06	5.06	0.68205	.	.	.	.	.	T	0.62109	0.2401	N	0.14661	0.345	0.28771	N	0.900351	B;P;B	0.44044	0.075;0.825;0.014	B;P;B	0.46585	0.011;0.521;0.01	T	0.60010	-0.7346	9	0.45353	T	0.12	.	14.2693	0.66143	0.0:0.0:1.0:0.0	.	202;315;315	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	M	315;315;202	ENSP00000443493:V315M;ENSP00000263431:V315M;ENSP00000438090:V202M	ENSP00000263431:V315M	V	+	1	0	PRKCG	59093028	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.783000	0.55409	2.530000	0.85305	0.484000	0.47621	GTG		0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54401216	G	A	54401216	3	1	144	1	0	0	0	0	1	0	0	0	12512	1261	44	3	981	3	PRKCG	19	54401216	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	7485648	54401216	4727767	87	9881											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378070	55378070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtcgcccttctcagaggCccaagacacccctaacagat	11	7	7	16	1	2	3	2	0	1	3	4	3	2	3	4	1	1	0	4	1	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55378070C>A	ENST00000326321.3	+	9	1285	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P418T|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P401T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	418					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCTCAGAGGCCCAAGACACC	0.522																																						uc002qhl.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1252-1254)Ccc>Acc		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							268	263	265					19																	55378070		2203	4300	6503	SO:0001583	missense	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378070C>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1252C>A	19.37:g.55378070C>A	ENSP00000325525:p.Pro418Thr					KIR3DL2_uc002qho.4_Missense_Mutation_p.P418T|KIR3DL2_uc010esh.3_Missense_Mutation_p.P401T	p.P418T			P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1315	+			418					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1252C>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747400	0.30955	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00493	7.08;7.02;7.0	1.72	-2.9	0.05648	.	.	.	.	.	T	0.01061	0.0035	M	0.72894	2.215	0.09310	N	1	B;D;D	0.89917	0.243;1.0;1.0	B;D;D	0.87578	0.119;0.996;0.998	T	0.46414	-0.9193	9	0.87932	D	0	.	2.6866	0.05109	0.0:0.3528:0.2603:0.3869	.	401;418;418	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	T	418;418;401	ENSP00000384528:P418T;ENSP00000325525:P418T;ENSP00000270442:P401T	ENSP00000384528:P418T	P	+	1	0	KIR3DL1;KIR3DL2	60069882	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	0.278000	0.18753	-0.297000	0.08934	0.499000	0.49734	CCC		0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			A	55378070	C	A	55378070	3	1	144	1	0	0	0	0	1	0	0	0	8321	739	26	5	1286	5	KIR3DL2	19	55378070	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	976854	55378070	3750913	88	9882											
NLRP7	199713	broad.mit.edu	37	chr19	55451740	55451740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggtttctcagagtgacGtcgtcatggaaattgtcaat	9	14	11	7	3	3	2	3	1	1	1	5	3	3	3	0	2	0	2	0	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55451740G>A	ENST00000590030.1	-	3	487	c.447C>T	c.(445-447)gaC>gaT	p.D149D	NLRP7_ENST00000592784.1_Silent_p.D149D|NLRP7_ENST00000328092.5_Silent_p.D149D|NLRP7_ENST00000448121.2_Silent_p.D149D|NLRP7_ENST00000446217.1_Silent_p.D177D|NLRP7_ENST00000340844.2_Silent_p.D149D|NLRP7_ENST00000588756.1_Silent_p.D149D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	149							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGAGTGACGTCGTCATGGA	0.498																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(445-447)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							246	263	257					19																	55451740		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451740G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.447C>T	19.37:g.55451740G>A						NLRP7_uc010esk.3_Silent_p.D149D|NLRP7_uc002qig.4_Silent_p.D149D|NLRP7_uc002qii.4_Silent_p.D149D|NLRP7_uc010esl.3_Silent_p.D177D	p.D149D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	523	-			149					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.447C>T	CCDS33109.1																																																																																				0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55451740	G	A	55451740	2	1	144	1	0	0	0	0	0	0	0	1	10482	1136	40	1		1	NLRP7	19	55451740	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	73670	55451740	3677243	89	9883											
NLRP4	147945	broad.mit.edu	37	chr19	56382210	56382210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttggctttctgccaccTcagcgagcagtgctgcgaat	7	11	12	11	2	2	0	1	0	1	0	2	2	2	0	2	2	5	4	2	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:56382210T>C	ENST00000301295.6	+	7	2794	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	NLRP4_ENST00000587891.1_Missense_Mutation_p.L716P|NLRP4_ENST00000346986.5_Missense_Mutation_p.L735P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	791					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCCACCTCAGCGAGCAG	0.498																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2371-2373)cTc>cCc		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							132	116	121					19																	56382210		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382210T>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2372T>C	19.37:g.56382210T>C	ENSP00000301295:p.Leu791Pro					NLRP4_uc002qmf.3_Missense_Mutation_p.L716P|NLRP4_uc010etf.3_Missense_Mutation_p.L566P	p.L791P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2794	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	791					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2372T>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428517	0.43122	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.62364	0.03;0.14	3.94	3.94	0.45596	.	.	.	.	.	T	0.80909	0.4714	M	0.89715	3.055	0.21933	N	0.999466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	T	0.70163	-0.4947	9	0.87932	D	0	.	9.3502	0.38133	0.0:0.0:0.0:1.0	.	735;716;791	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	P	791;735	ENSP00000301295:L791P;ENSP00000344787:L735P	ENSP00000301295:L791P	L	+	2	0	NLRP4	61074022	0.016000	0.18221	0.005000	0.12908	0.005000	0.04900	3.012000	0.49575	1.785000	0.52413	0.528000	0.53228	CTC		0.498	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		C	56382210	T	C	56382210	3	2	144	1	0	0	0	0	1	0	0	0	10479	1551	54	4	2394	4	NLRP4	19	56382210	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	930470	56382210	2746773	90	9884											
SLC7A4	6545	broad.mit.edu	37	chr22	21384419	21384419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggtggccacgaatgtgtAggccaggagtgtgccaaggg	9	7	17	8	1	0	0	0	0	0	0	0	2	0	1	3	5	1	1	3	5	3	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:21384419A>G	ENST00000382932.2	-	3	1271	c.1204T>C	c.(1204-1206)Tac>Cac	p.Y402H	SLC7A4_ENST00000403586.1_Missense_Mutation_p.Y402H|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	402					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGAATGTGTAGGCCAGGAGT	0.657																																						uc002zud.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(1204-1206)Tac>Cac		Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						39	40	40					22																	21384419		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384419A>G	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1204T>C	22.37:g.21384419A>G	ENSP00000372390:p.Tyr402His					SLC7A4_uc002zue.3_Missense_Mutation_p.Y402H	p.Y402H	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	1272	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	402					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1204T>C	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826725	0.71143	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.90788	-2.73;-2.73	4.94	3.9	0.45041	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.88570	2.965	0.58432	D	0.999995	D	0.76494	0.999	D	0.78314	0.991	D	0.94556	0.7758	10	0.72032	D	0.01	.	9.1367	0.36879	0.9126:0.0:0.0874:0.0	.	402	O43246	CTR4_HUMAN	H	402	ENSP00000384278:Y402H;ENSP00000372390:Y402H	ENSP00000372390:Y402H	Y	-	1	0	SLC7A4	19714419	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.701000	0.91331	1.005000	0.39183	0.459000	0.35465	TAC		0.657	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		G	21384419	A	G	21384419	3	3	144	1	0	0	0	0	1	0	0	0	14699	420	15	4	715	4	SLC7A4	22	21384419	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08		21384419	29920147	91	9885											
RRP7A	27341	broad.mit.edu	37	chr22	42910784	42910784	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtagtcactgatccaCtctgaggaaaagggagccag	11	8	12	10	1	3	2	1	2	2	0	4	4	4	4	2	2	2	1	2	2	3	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:42910784C>T	ENST00000323013.6	-	5	477	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	154							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602																																						uc003bcp.3																			1	Substitution - coding silent(1)	p.K154K(1)	prostate(1)	central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.e3-1		Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.							46	50	49					22																	42910784		2189	4299	6488	SO:0001630	splice_region_variant	27341						nucleotide binding|RNA binding	g.chr22:42910784C>T	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.461-1G>A	22.37:g.42910784C>T						RRP7A_uc003bcq.3_Splice_Site_p.K154_splice	p.K177_splice	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN			3	1024	-			154					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	c.530_splice	CCDS14036.1																																																																																				0.602	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	Silent	T	42910784	C	T	42910784	5	4	144	1	0	0	0	0	0	0	1	0	13689	579	20	3	392	3	RRP7A	22	42910784	Splice_Site	SNP	C	TCGA-14-3476-01B-01D-1353-08	21526365	42910784	8393782	92	9886											
MOV10L1	54456	broad.mit.edu	37	chr22	50596619	50596619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacattggcgtcatcaCgccctaccggaagcaggtac	10	6	11	14	4	2	0	2	0	0	0	2	2	2	1	2	3	4	2	2	3	3	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:50596619C>T	ENST00000262794.5	+	23	3283	c.3200C>T	c.(3199-3201)aCg>aTg	p.T1067M	MOV10L1_ENST00000354853.2_Missense_Mutation_p.T110M|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T1067M|MOV10L1_ENST00000540615.1_Missense_Mutation_p.T1047M|MOV10L1_ENST00000395843.1_Missense_Mutation_p.T110M|MOV10L1_ENST00000395852.1_Missense_Mutation_p.T194M|MOV10L1_ENST00000545383.1_Missense_Mutation_p.T1067M	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1067					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCGTCATCACGCCCTACCGG	0.657																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3199-3201)aCg>aTg		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.							68	58	62					22																	50596619		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50596619C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3200C>T	22.37:g.50596619C>T	ENSP00000262794:p.Thr1067Met					MOV10L1_uc003bjk.4_Missense_Mutation_p.T1067M|MOV10L1_uc011arp.2_Missense_Mutation_p.T1047M|MOV10L1_uc003bjl.3_Missense_Mutation_p.T194M|MOV10L1_uc003bjm.1_Missense_Mutation_p.T110M	p.T1067M	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3283	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1067					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3200C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.266991	0.80469	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	4.7	4.7	0.59300	.	0.158017	0.56097	D	0.000027	D	0.98254	0.9422	H	0.96916	3.905	0.53688	D	0.999971	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.994;0.992;0.995;0.998	D	0.99782	1.1028	10	0.87932	D	0	-22.5825	16.7691	0.85532	0.0:1.0:0.0:0.0	.	1047;110;194;1067;1067	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	M	1067;1067;1067;110;1047;194;110	ENSP00000438978:T1067M;ENSP00000262794:T1067M;ENSP00000379199:T1067M;ENSP00000379184:T110M;ENSP00000438542:T1047M;ENSP00000379193:T194M;ENSP00000346917:T110M	ENSP00000262794:T1067M	T	+	2	0	MOV10L1	48938746	1.000000	0.71417	0.995000	0.50966	0.822000	0.46500	6.881000	0.75584	2.304000	0.77564	0.643000	0.83706	ACG		0.657	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50596619	C	T	50596619	3	4	144	1	0	0	0	0	1	0	0	0	9719	536	19	1	3343	1	MOV10L1	22	50596619	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	7685835	50596619	707947	93	9887											
SHROOM2	357	broad.mit.edu	37	chrX	9905429	9905429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcccagccggctgagccCcagcccctgggcacccaggt	6	3	14	18	1	0	1	0	1	0	0	0	1	0	1	7	4	3	2	7	4	0	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:9905429C>T	ENST00000380913.3	+	7	3933	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	SHROOM2_ENST00000418909.2_Silent_p.P116P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1281					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGGCTGAGCCCCAGCCCCTGG	0.642																																						uc004csu.1																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3841-3843)ccC>ccT		Homo sapiens shroom family member 2 (SHROOM2), mRNA.							19	18	18					X																	9905429		2197	4296	6493	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905429C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3843C>T	X.37:g.9905429C>T						SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	p.P1281P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			6	3933	+		Hepatocellular(5;0.000888)	1281					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.3843C>T	CCDS14135.1																																																																																				0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		T	9905429	C	T	9905429	2	4	144	1	0	0	0	0	0	0	0	1	14294	610	22	3		3	SHROOM2	23	9905429	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08		9905429	145365131	94	9888											
SRPX	8406	broad.mit.edu	37	chrX	38009054	38009054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggttgaacagggccacAggcatcaccagggagacata	14	5	12	10	0	2	2	2	1	0	1	2	3	2	2	2	4	1	2	2	4	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:38009054A>G	ENST00000378533.3	-	10	1411	c.1305T>C	c.(1303-1305)ccT>ccC	p.P435P	SRPX_ENST00000343800.6_Silent_p.P422P|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000544439.1_Silent_p.P415P|SRPX_ENST00000432886.2_Silent_p.P376P|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	435					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACAGGGCCACAGGCATCACCA	0.502																																						uc004ddy.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(1303-1305)ccT>ccC		Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.							164	110	129					X																	38009054		2202	4300	6502	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38009054A>G	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1305T>C	X.37:g.38009054A>G						SRPX_uc011mki.2_3'UTR|SRPX_uc004ddz.2_Silent_p.P415P|SRPX_uc011mkh.2_Silent_p.P376P	p.P435P	NM_006307	NP_006298	P78539	SRPX_HUMAN			9	1437	-			435					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.1305T>C	CCDS14245.1																																																																																				0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		G	38009054	A	G	38009054	2	3	144	1	0	0	0	0	0	0	0	1	15163	175	7	4		4	SRPX	23	38009054	Silent	SNP	A	TCGA-14-3476-01B-01D-1353-08	28103625	38009054	117261506	95	9889											
WDR45	11152	broad.mit.edu	37	chrX	48935362	48935362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccagaaggttggagcGgtgcagcatctccaccaagc	11	5	13	12	1	1	1	0	0	1	1	2	2	1	2	3	4	4	3	3	4	3	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:48935362G>A	ENST00000376372.3	-	4	356	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	WDR45_ENST00000376368.2_Missense_Mutation_p.R59C|WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.R59C|WDR45_ENST00000356463.3_Missense_Mutation_p.R59C|WDR45_ENST00000473974.1_Missense_Mutation_p.R59C|WDR45_ENST00000465431.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.R59C|WDR45_ENST00000485908.1_Intron	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	59					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGTTGGAGCGGTGCAGCATC	0.607																																						uc004dml.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(175-177)Cgc>Tgc		Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.							55	33	41					X																	48935362		2200	4297	6497	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48935362G>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.175C>T	X.37:g.48935362G>A	ENSP00000365551:p.Arg59Cys					WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dmk.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.2_Missense_Mutation_p.R59C	p.R59C	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN			3	347	-			59					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.175C>T	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.491564|2.491564	0.44249|0.44249	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000367375|ENST00000376372;ENST00000322995;ENST00000356463;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000474053;ENST00000419567;ENST00000465382	.|T;T;T;T;T;T;T;T;T;T	.|0.80123	.|0.56;0.56;0.56;0.56;0.56;0.56;-1.34;0.56;0.56;0.56	3.61|3.61	3.61|3.61	0.41365|0.41365	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.73938|0.73938	0.3651|0.3651	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B	.|0.47034	.|0.889;0.239;0.351;0.107;0.371	.|B;B;B;B;B	.|0.39971	.|0.315;0.064;0.086;0.059;0.133	T|T	0.77713|0.77713	-0.2485|-0.2485	5|10	.|0.87932	.|D	.|0	-12.4177|-12.4177	9.5521|9.5521	0.39317|0.39317	0.0:0.0:0.7897:0.2103|0.0:0.0:0.7897:0.2103	.|.	.|59;59;59;59;59	.|B4DVH6;C9J471;Q9Y484-2;Q9Y484-3;Q9Y484	.|.;.;.;.;WIPI4_HUMAN	L|C	15|59	.|ENSP00000365551:R59C;ENSP00000365543:R59C;ENSP00000348848:R59C;ENSP00000417211:R59C;ENSP00000365546:R59C;ENSP00000379913:R59C;ENSP00000418466:R59C;ENSP00000420728:R59C;ENSP00000393640:R59C;ENSP00000420534:R59C	.|ENSP00000365543:R59C	P|R	-|-	2|1	0|0	WDR45|WDR45	48822306|48822306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.711000|5.711000	0.68400|0.68400	2.057000|2.057000	0.61298|0.61298	0.529000|0.529000	0.55759|0.55759	CCG|CGC		0.607	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		A	48935362	G	A	48935362	3	1	144	1	0	0	0	0	1	0	0	0	17294	1116	39	2	942	2	WDR45	23	48935362	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	10926308	48935362	106335198	96	9890											
OPN1LW	5956	broad.mit.edu	37	chrX	153416186	153416186	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtaccacctcaccagTgtctggatgatctttgtggt	6	14	12	9	0	3	1	1	1	2	0	3	2	3	2	3	3	1	1	3	3	1	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153416186T>C	ENST00000369951.4	+	2	231	c.171T>C	c.(169-171)agT>agC	p.S57S	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	57					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCACCAGTGTCTGGATGA	0.587																																						uc004fjz.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(169-171)agT>agC		Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.							115	92	100					X																	153416186		2196	4273	6469	SO:0001819	synonymous_variant	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416186T>C	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.171T>C	X.37:g.153416186T>C							p.S57S	NM_020061	NP_064445	P04000	OPSR_HUMAN			1	204	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		57						Silent	SNP	ENST00000369951.4	37	c.171T>C	CCDS14742.1																																																																																				0.587	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		C	153416186	T	C	153416186	2	2	144	1	0	0	0	0	0	0	0	1	10877	1693	59	4		4	OPN1LW	23	153416186	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	104480824	153416186	1854374	97	9891											
RPL10	6134	broad.mit.edu	37	chrX	153628824	153628824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaaacaggcatgcgaGgtgcctttggaaagccccag	10	6	13	12	1	0	0	0	0	0	0	1	2	1	1	4	4	4	2	4	4	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153628824G>A	ENST00000369817.2	+	7	925	c.349G>A	c.(349-351)Ggt>Agt	p.G117S	RPL10_ENST00000424325.2_Missense_Mutation_p.G117S|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.G66S			P27635	RL10_HUMAN	ribosomal protein L10	117					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCATGCGAGGTGCCTTTGG	0.527																																						uc004fkm.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(349-351)Ggt>Agt		Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.							83	85	85					X																	153628824		2203	4296	6499	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628824G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.349G>A	X.37:g.153628824G>A	ENSP00000358832:p.Gly117Ser					AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.G117S|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.G42S|RPL10_uc022cif.1_5'Flank	p.G117S	NM_006013	NP_006004	P27635	RL10_HUMAN			5	537	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		117					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.349G>A	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476274	0.84640	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022;ENST00000427682;ENST00000428169	T;T;T;T	0.73152	-0.7;-0.7;-0.7;-0.72	4.82	4.82	0.62117	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.87669	0.6235	H	0.96048	3.76	0.80722	D	1	P;P	0.46706	0.883;0.834	P;P	0.59595	0.814;0.86	D	0.91334	0.5092	10	0.87932	D	0	-17.1559	14.4069	0.67088	0.0:0.0:1.0:0.0	.	66;117	F8W7C6;P27635	.;RL10_HUMAN	S	117;117;117;117;66;27;27	ENSP00000358832:G117S;ENSP00000413436:G117S;ENSP00000341730:G117S;ENSP00000385621:G66S	ENSP00000341730:G117S	G	+	1	0	RPL10	153282018	1.000000	0.71417	0.922000	0.36590	0.520000	0.34377	8.853000	0.92222	1.977000	0.57605	0.513000	0.50165	GGT		0.527	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		A	153628824	G	A	153628824	3	1	144	1	0	0	0	0	1	0	0	0	13554	1000	35	3	367	3	RPL10	23	153628824	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	212638	153628824	1641736	98	9892											
VAMP7	6845	broad.mit.edu	37	chrX	155130194	155130194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataagggcctagacaaaGtgatggagactcaagcccaa	17	5	11	8	0	1	4	1	1	0	3	1	5	1	4	2	2	1	0	2	2	6	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:155130194G>T	ENST00000286448.6	+	5	541	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	VAMP7_ENST00000460621.1_Missense_Mutation_p.V85L|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.V126L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	126	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTAGACAAAGTGATGGAGAC	0.358																																						uc004fnr.3																			0				large_intestine(1)|lung(8)	9						c.(376-378)Gtg>Ttg		Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.							164	147	152					X																	155130194		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155130194G>T	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.376G>T	X.37:g.155130194G>T	ENSP00000286448:p.Val126Leu					VAMP7_uc011naa.2_Missense_Mutation_p.V87L|VAMP7_uc011nab.2_Missense_Mutation_p.V25L|VAMP7_uc004fnt.3_Missense_Mutation_p.V85L|VAMP7_uc004fns.3_Missense_Mutation_p.V126L|VAMP7_uc011nac.2_Missense_Mutation_p.V59L	p.V126L	NM_005638	NP_005629	P51809	VAMP7_HUMAN			4	554	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		126			v-SNARE coiled-coil homology.		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.376G>T	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737930	0.15574	.	.	ENSG00000124333	ENST00000286448;ENST00000262640;ENST00000460621	T;T;T	0.38401	1.14;2.44;1.14	3.14	3.14	0.36123	Synaptobrevin (2);	0.187716	0.45361	D	0.000370	T	0.15392	0.0371	.	.	.	0.09310	N	1	B;B;B;B;B	0.20052	0.001;0.001;0.002;0.041;0.0	B;B;B;B;B	0.18561	0.007;0.006;0.004;0.022;0.007	T	0.22487	-1.0215	9	0.02654	T	1	.	11.3534	0.49602	0.0:0.0:1.0:0.0	.	59;87;85;126;126	B4DE96;B4DIH9;P51809-3;P51809-2;P51809	.;.;.;.;VAMP7_HUMAN	L	126;126;85	ENSP00000286448:V126L;ENSP00000262640:V126L;ENSP00000427822:V85L	ENSP00000262640:V126L	V	+	1	0	VAMP7	154783388	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.658000	0.37376	1.590000	0.49995	0.421000	0.28195	GTG		0.358	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		T	155130194	G	T	155130194	3	4	144	1	0	0	0	0	1	0	0	0	17114	1029	36	5	390	5	VAMP7	23	155130194	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	1501370	155130194	140366	99	9893											
HSPG2	3339	broad.mit.edu	37	chr1	22211272	22211272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtacctcgttgtgggaCgagctcaaggacaccgtcag	9	7	14	11	3	2	0	2	0	0	0	3	3	2	2	2	3	2	4	2	3	2	2	rs376748881		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:22211272C>T	ENST00000374695.3	-	12	1574	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	499	Ig-like C2-type 1.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGTTGTGGGACGAGCTCAAGG	0.667																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1495-1497)Gtc>Atc		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)	C	ILE/VAL	0,4404		0,0,2202	42	33	36		1495	1	1	1		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPG2	NM_005529.5	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	499/4392	22211272	1,13003	2202	4300	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22211272C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1495G>A	1.37:g.22211272C>T	ENSP00000363827:p.Val499Ile					HSPG2_uc001bfj.3_Missense_Mutation_p.V499I	p.V499I	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	11	1535	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	499			Ig-like C2-type 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1495G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	0.724	-0.782533	0.02907	0.0	1.16E-4	ENSG00000142798	ENST00000374695	T	0.75589	-0.95	5.32	1.03	0.20045	.	0.691467	0.11798	N	0.528448	T	0.53238	0.1784	N	0.21194	0.64	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.30327	-0.9982	10	0.14656	T	0.56	.	4.5687	0.12200	0.0:0.23:0.1592:0.6108	.	499	P98160	PGBM_HUMAN	I	499	ENSP00000363827:V499I	ENSP00000363827:V499I	V	-	1	0	HSPG2	22083859	1.000000	0.71417	0.981000	0.43875	0.430000	0.31655	1.621000	0.36986	-0.077000	0.12752	-0.367000	0.07326	GTC		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22211272	C	T	22211272	3	4	145	1	0	0	0	0	1	0	0	0	7430	536	19	1	12024	1	HSPG2	1	22211272	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		22211272	227039349	1	9894											
DAB1	1600	broad.mit.edu	37	chr1	57535043	57535043	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttatacctgataaatgTtttcttccgtttcgggatca	10	18	6	7	2	2	1	1	1	1	0	4	2	3	2	2	1	1	2	2	1	5	8			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:57535043T>A	ENST00000371231.1	-	7	687	c.653A>T	c.(652-654)aAc>aTc	p.N218I	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371236.2_Missense_Mutation_p.N218I|DAB1_ENST00000371234.4_Missense_Mutation_p.N218I|DAB1_ENST00000414851.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	218					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGATAAATGTTTTCTTCCGT	0.423																																						uc009vzx.1																			0		p.E217*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(652-654)aAc>aTc		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.							166	150	155					1																	57535043		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57535043T>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.653A>T	1.37:g.57535043T>A	ENSP00000360275:p.Asn218Ile					DAB1_uc001cyt.1_Missense_Mutation_p.N218I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.N218I	p.N218I	NM_021080	NP_066566	O75553	DAB1_HUMAN			7	973	-			218					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.653A>T		.	.	.	.	.	.	.	.	.	.	T	16.71	3.197792	0.58126	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	T;T;T	0.47177	0.91;0.91;0.85	5.53	5.53	0.82687	.	0.092151	0.85682	D	0.000000	T	0.34019	0.0883	N	0.08118	0	0.80722	D	1	P;P	0.46706	0.883;0.744	P;B	0.44860	0.462;0.202	T	0.36016	-0.9765	10	0.56958	D	0.05	-35.1125	14.3878	0.66958	0.0:0.0:0.0:1.0	.	218;218	O75553;O75553-6	DAB1_HUMAN;.	I	218	ENSP00000360280:N218I;ENSP00000360278:N218I;ENSP00000360275:N218I	ENSP00000360275:N218I	N	-	2	0	DAB1	57307631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.601000	0.54059	2.324000	0.78689	0.533000	0.62120	AAC		0.423	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		A	57535043	T	A	57535043	3	1	145	1	0	0	0	0	1	0	0	0	4217	1725	60	5	1042	5	DAB1	1	57535043	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	35323771	57535043	191715578	2	9895											
GBP2	2634	broad.mit.edu	37	chr1	89575480	89575482	+	In_Frame_Del	DEL	CTC	CTC	-																															ttctctttctgttccatcatCtcctcattcttcttttgtat																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:89575480_89575482delCTC	ENST00000370466.3	-	10	1805_1807	c.1537_1539delGAG	c.(1537-1539)gagdel	p.E513del	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	513					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GTTCCATCATCTCCTCATTCTTC	0.404																																						uc001dmz.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1537-1539)gagdel		Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.																																				SO:0001651	inframe_deletion	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89575480_89575482delCTC	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1537_1539delGAG	1.37:g.89575483_89575485delCTC	ENSP00000359497:p.Glu513del					GBP2_uc001dmy.1_Non-coding_Transcript	p.E513del	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	9	1808_1810	-		Lung NSC(277;0.0908)	513					Q6GPH0|Q6IAU2|Q86TB0	In_Frame_Del	DEL	ENST00000370466.3	37	c.1537_1539delGAG	CCDS719.1																																																																																				0.404	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		-	89575482	CTC	-	89575480	7	5	145	1	0	1	0	1	0	0	0	0	6274	912	32	0	244	0	GBP2	1	89575480	In_Frame_Del	DEL	CTC	TCGA-14-4157-01A-01D-1353-08	32040437	89575480	159675141	3	9896											
DCLRE1B	64858	broad.mit.edu	37	chr1	114448263	114448263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggacttctggagcctgCgccgggctggcaccgcacgt	5	7	15	14	4	1	0	0	0	1	0	1	2	1	2	3	4	2	3	3	4	0	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:114448263C>T	ENST00000369563.3	+	1	501	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	AP4B1_ENST00000256658.4_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	19					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAGCCTGCGCCGGGCTGG	0.642								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(55-57)Cgc>Tgc	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							75	78	77					1																	114448263		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114448263C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.55C>T	1.37:g.114448263C>T	ENSP00000358576:p.Arg19Cys					AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	p.R19C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	0	349	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	19					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.55C>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443654	0.83993	.	.	ENSG00000118655	ENST00000369563	T	0.76316	-1.01	5.56	3.7	0.42460	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.82056	2.57	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.81477	-0.0915	10	0.62326	D	0.03	-21.0491	5.4732	0.16682	0.2689:0.5803:0.0:0.1508	.	19	Q9H816	DCR1B_HUMAN	C	19	ENSP00000358576:R19C	ENSP00000358576:R19C	R	+	1	0	DCLRE1B	114249786	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.828000	0.39111	0.718000	0.32166	0.561000	0.74099	CGC		0.642	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		T	114448263	C	T	114448263	3	4	145	1	0	0	0	0	1	0	0	0	4295	768	27	1	57	1	DCLRE1B	1	114448263	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	24872783	114448263	134802358	4	9897											
CASQ2	845	broad.mit.edu	37	chr1	116247851	116247851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgatccacaggatgctcaGatcggggttgtcagtattgt	8	12	13	8	2	2	1	2	0	0	1	5	3	3	2	1	3	1	3	1	3	1	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:116247851G>C	ENST00000261448.5	-	9	1140	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	CASQ2_ENST00000456138.2_Missense_Mutation_p.L230V	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	301					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGATGCTCAGATCGGGGTTG	0.547																																						uc001efx.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(901-903)Ctg>Gtg		Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.							154	144	147					1																	116247851		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116247851G>C	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.901C>G	1.37:g.116247851G>C	ENSP00000261448:p.Leu301Val					CASQ2_uc010owu.2_Missense_Mutation_p.L230V	p.L301V	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1165	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	301					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.901C>G	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070287	0.55539	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.78364	-1.17;-1.17	5.58	0.847	0.18961	Thioredoxin-like fold (2);	0.068508	0.64402	D	0.000011	T	0.81133	0.4759	M	0.87180	2.865	0.51482	D	0.999926	D;D	0.76494	0.988;0.999	D;D	0.68483	0.938;0.958	T	0.78909	-0.2018	10	0.49607	T	0.09	-6.9504	6.3319	0.21274	0.3263:0.1195:0.5542:0.0	.	230;301	B4DIB0;O14958	.;CASQ2_HUMAN	V	301;230;255	ENSP00000261448:L301V;ENSP00000403858:L230V	ENSP00000261448:L301V	L	-	1	2	CASQ2	116049374	1.000000	0.71417	0.938000	0.37757	0.616000	0.37450	4.601000	0.61090	0.130000	0.18549	-0.136000	0.14681	CTG		0.547	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		C	116247851	G	C	116247851	3	2	145	1	0	0	0	0	1	0	0	0	2681	933	33	5	310	5	CASQ2	1	116247851	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	1799588	116247851	133002770	5	9898											
PRSS38	339501	broad.mit.edu	37	chr1	228004940	228004940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaatctatgacatgtaCgtaggcctcgtaaacctcag	14	10	7	10	2	3	1	2	1	1	0	4	1	3	1	2	1	2	3	2	1	7	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:228004940C>T	ENST00000366757.3	+	3	366	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGACATGTACGTAGGCCTCG	0.562																																						uc001hrh.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(340-342)taC>taT		Homo sapiens protease, serine, 38 (PRSS38), mRNA.							129	107	114					1																	228004940		2203	4300	6503	SO:0001819	synonymous_variant	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228004940C>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.342C>T	1.37:g.228004940C>T							p.Y114Y	NM_183062	NP_898885	A1L453	PRS38_HUMAN			2	342	+			114			Peptidase S1.		Q7RTY6	Silent	SNP	ENST00000366757.3	37	c.342C>T	CCDS1563.1																																																																																				0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		T	228004940	C	T	228004940	2	4	145	1	0	0	0	0	0	0	0	1	12627	547	19	1		1	PRSS38	1	228004940	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	111757089	228004940	21245681	6	9899											
LYST	1130	broad.mit.edu	37	chr1	235866238	235866238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctagcgctcgtctctgaaCtggatcttcaactgcagaga	9	12	9	11	2	4	2	1	1	3	1	6	4	4	3	0	1	4	2	0	1	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:235866238C>T	ENST00000389794.3	-	45	10357	c.10183G>A	c.(10183-10185)Gtt>Att	p.V3395I	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.V3395I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3395	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGTCTCTGAACTGGATCTTCA	0.448																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10183-10185)Gtt>Att		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							128	129	129					1																	235866238		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866238C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10183G>A	1.37:g.235866238C>T	ENSP00000374444:p.Val3395Ile					LYST_uc001hxi.2_Missense_Mutation_p.V619I	p.V3395I	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		44	10358	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3395			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10183G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257325	0.80246	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64085	-0.08;-0.08	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	N	0.20328	0.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73630	-0.3922	10	0.66056	D	0.02	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3395	Q99698	LYST_HUMAN	I	3395	ENSP00000374444:V3395I;ENSP00000374443:V3395I	ENSP00000374443:V3395I	V	-	1	0	LYST	233932861	1.000000	0.71417	0.953000	0.39169	0.574000	0.36063	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	GTT		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235866238	C	T	235866238	3	4	145	1	0	0	0	0	1	0	0	0	9128	565	20	3	1258	3	LYST	1	235866238	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	7861298	235866238	13384383	7	9900											
HEATR1	55127	broad.mit.edu	37	chr1	236749663	236749663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaccataaatggcagcaaaCatacaaccacctgatttgac	17	8	5	11	0	0	2	0	2	0	0	0	2	0	2	3	1	5	2	3	1	6	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:236749663C>A	ENST00000366582.3	-	15	1919	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F	HEATR1_ENST00000366581.2_Missense_Mutation_p.C602F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	602					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGCAGCAAACATACAACCAC	0.358																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1804-1806)tGt>tTt		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							112	115	114					1																	236749663		2203	4299	6502	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749663C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1805G>T	1.37:g.236749663C>A	ENSP00000355541:p.Cys602Phe						p.C602F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		14	1957	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	602					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1805G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	0.609	-0.825976	0.02734	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.41758	0.99;0.99	5.42	1.68	0.24146	Armadillo-like helical (1);Armadillo-type fold (1);	0.854969	0.10988	N	0.611975	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.17592	-1.0364	10	0.42905	T	0.14	.	5.2519	0.15527	0.0:0.2211:0.1394:0.6395	.	602	Q9H583	HEAT1_HUMAN	F	602	ENSP00000355541:C602F;ENSP00000355540:C602F	ENSP00000355540:C602F	C	-	2	0	HEATR1	234816286	0.001000	0.12720	0.016000	0.15963	0.123000	0.20343	0.670000	0.25157	0.444000	0.26612	-0.440000	0.05779	TGT		0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		A	236749663	C	A	236749663	3	1	145	1	0	0	0	0	1	0	0	0	7027	478	17	5	4753	5	HEATR1	1	236749663	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	883425	236749663	12500958	8	9901											
FOSL2	2355	broad.mit.edu	37	chr2	28635026	28635026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccctggaagaggacagccCctcgtcctcgtcggcggggc	5	5	15	16	4	0	1	0	0	0	1	4	3	1	3	5	5	1	0	5	5	1	0			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:28635026C>T	ENST00000264716.4	+	4	1555	c.692C>T	c.(691-693)cCc>cTc	p.P231L	FOSL2_ENST00000379619.1_Missense_Mutation_p.P223L|FOSL2_ENST00000545753.1_Missense_Mutation_p.P192L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	231					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGACAGCCCCTCGTCCTCG	0.692																																						uc002rma.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(691-693)cCc>cTc		Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.							34	37	36					2																	28635026		2201	4292	6493	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635026C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.692C>T	2.37:g.28635026C>T	ENSP00000264716:p.Pro231Leu					FOSL2_uc021vfg.1_Missense_Mutation_p.P223L|FOSL2_uc010ymi.2_Missense_Mutation_p.P192L	p.P231L	NM_005253	NP_005244	P15408	FOSL2_HUMAN			3	1501	+	Acute lymphoblastic leukemia(172;0.155)		231					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.692C>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189153	0.57909	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.80393	-1.37;-0.35;-1.03;-1.34	5.05	5.05	0.67936	.	0.400028	0.28414	N	0.015430	T	0.72036	0.3411	L	0.43152	1.355	0.50171	D	0.999854	P	0.50943	0.94	B	0.33568	0.166	T	0.75827	-0.3180	10	0.40728	T	0.16	-23.0029	18.5671	0.91120	0.0:1.0:0.0:0.0	.	231	P15408	FOSL2_HUMAN	L	223;231;192;192	ENSP00000368939:P223L;ENSP00000264716:P231L;ENSP00000396497:P192L;ENSP00000439303:P192L	ENSP00000264716:P231L	P	+	2	0	FOSL2	28488530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.677000	0.46892	2.611000	0.88343	0.561000	0.74099	CCC		0.692	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		T	28635026	C	T	28635026	3	4	145	1	0	0	0	0	1	0	0	0	5988	623	22	3	706	3	FOSL2	2	28635026	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		28635026	214564347	9	9902											
THADA	63892	broad.mit.edu	37	chr2	43520122	43520122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttccagtgttagtgagcGcacttcagggaaggcagatt	9	10	14	8	1	1	2	1	1	0	1	2	3	2	3	1	3	1	4	1	3	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:43520122G>A	ENST00000405006.4	-	32	5020	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C	THADA_ENST00000415080.2_Missense_Mutation_p.R1238C|THADA_ENST00000405975.2_Missense_Mutation_p.R1557C|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1557										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTAGTGAGCGCACTTCAGGG	0.557																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4669-4671)Cgc>Tgc		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							38	38	38					2																	43520122		1927	4131	6058	SO:0001583	missense	63892						binding	g.chr2:43520122G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4669C>T	2.37:g.43520122G>A	ENSP00000385995:p.Arg1557Cys					THADA_uc010far.3_Missense_Mutation_p.R752C|THADA_uc002rsx.4_Missense_Mutation_p.R1557C|THADA_uc002rsy.4_Non-coding_Transcript	p.R1557C	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			31	5021	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1557					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4669C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418098	0.62622	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.80033	-1.33;-1.33;-1.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	L	0.36672	1.1	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.86056	0.1529	10	0.59425	D	0.04	-26.6449	16.9603	0.86271	0.0:0.0:1.0:0.0	.	1484;1557	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	C	1557;1484;1238;1557	ENSP00000386088:R1557C;ENSP00000416048:R1238C;ENSP00000385995:R1557C	ENSP00000349464:R1484C	R	-	1	0	THADA	43373626	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	5.556000	0.67307	2.731000	0.93534	0.650000	0.86243	CGC		0.557	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43520122	G	A	43520122	3	1	145	1	0	0	0	0	1	0	0	0	15837	1087	38	1	1220	1	THADA	2	43520122	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	14885096	43520122	199679251	10	9903											
FSHR	2492	broad.mit.edu	37	chr2	49190747	49190747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgcagagatcagcaaaggCcaggttgcacataaggaacc	16	5	11	9	0	1	1	1	0	0	1	1	3	1	2	2	3	4	4	2	3	4	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:49190747C>T	ENST00000406846.2	-	10	1332	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	FSHR_ENST00000541117.1_Missense_Mutation_p.A141T|FSHR_ENST00000304421.4_Missense_Mutation_p.A379T|FSHR_ENST00000346173.3_Missense_Mutation_p.A343T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	405					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCAGCAAAGGCCAGGTTGCAC	0.458									Gonadal Dysgenesis, 46 XX																													uc002rww.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1213-1215)Gcc>Acc		Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						137	134	135					2																	49190747		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190747C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1213G>A	2.37:g.49190747C>T	ENSP00000384708:p.Ala405Thr					FSHR_uc010fbn.3_Missense_Mutation_p.A379T|FSHR_uc002rwx.3_Missense_Mutation_p.A343T	p.A405T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	1323	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	405					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1213G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565987	0.86439	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	H	0.96175	3.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.988;0.998;0.988	D	0.87327	0.2322	9	.	.	.	.	18.3052	0.90177	0.0:1.0:0.0:0.0	.	379;343;405	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	T	405;343;379;141	ENSP00000384708:A405T;ENSP00000333908:A343T;ENSP00000306780:A379T;ENSP00000444172:A141T	.	A	-	1	0	FSHR	49044251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.801000	0.96364	0.655000	0.94253	GCC		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			T	49190747	C	T	49190747	3	4	145	1	0	0	0	0	1	0	0	0	6073	739	26	3	878	3	FSHR	2	49190747	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	5670625	49190747	194008626	11	9904											
CTNNA2	1496	broad.mit.edu	37	chr2	80085194	80085194	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgacccttgctcgtcggtAaagcgcggcaccatggtacg	8	8	13	12	5	0	1	0	1	0	0	2	2	0	1	2	3	3	4	2	3	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:80085194A>C	ENST00000402739.4	+	3	359	c.354A>C	c.(352-354)gtA>gtC	p.V118V	CTNNA2_ENST00000361291.4_Silent_p.V152V|CTNNA2_ENST00000466387.1_Silent_p.V118V|CTNNA2_ENST00000540488.1_Silent_p.V118V|CTNNA2_ENST00000541047.1_Silent_p.V118V|CTNNA2_ENST00000496558.1_Silent_p.V118V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	118					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTCGTCGGTAAAGCGCGGCA	0.582																																						uc010ysh.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(352-354)gtA>gtC		Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.							97	95	96					2																	80085194		2063	4190	6253	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085194A>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.354A>C	2.37:g.80085194A>C						CTNNA2_uc010yse.2_Silent_p.V118V|CTNNA2_uc010ysf.2_Silent_p.V118V|CTNNA2_uc010ysg.2_Silent_p.V118V	p.V118V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	359	+			118					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.354A>C																																																																																					0.582	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		C	80085194	A	C	80085194	2	2	145	1	0	0	0	0	0	0	0	1	4013	349	13	5		5	CTNNA2	2	80085194	Silent	SNP	A	TCGA-14-4157-01A-01D-1353-08	30894447	80085194	163114179	12	9905											
SLC9A2	6549	broad.mit.edu	37	chr2	103274233	103274233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccattctttgagaacattgGcacgattttctggtatgctg	8	15	9	9	1	2	1	0	1	2	1	2	3	2	1	1	2	2	3	1	2	2	6			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:103274233G>C	ENST00000233969.2	+	2	642	c.500G>C	c.(499-501)gGc>gCc	p.G167A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	167					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAACATTGGCACGATTTTC	0.493																																						uc002tca.3																			0		p.I166I(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(499-501)gGc>gCc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.							328	309	315					2																	103274233		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274233G>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.500G>C	2.37:g.103274233G>C	ENSP00000233969:p.Gly167Ala						p.G167A	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			1	642	+			167					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.500G>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865014	0.91511	.	.	ENSG00000115616	ENST00000233969	T	0.16196	2.36	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53151	-0.8479	10	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	167	Q9UBY0	SL9A2_HUMAN	A	167	ENSP00000233969:G167A	ENSP00000233969:G167A	G	+	2	0	SLC9A2	102640665	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	9.860000	0.99555	2.808000	0.96608	0.655000	0.94253	GGC		0.493	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			C	103274233	G	C	103274233	3	2	145	1	0	0	0	0	1	0	0	0	14712	1203	42	5	506	5	SLC9A2	2	103274233	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	23189039	103274233	139925140	13	9906											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	145	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	105838879	209113112	34086261	14	9907											
GIGYF2	26058	broad.mit.edu	37	chr2	233613794	233613794	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttacagaagaagaacaggTttgtgattagctctgagccc	12	11	10	8	0	1	5	0	2	1	3	1	5	1	5	1	1	4	2	1	1	5	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:233613794T>C	ENST00000409547.1	+	7	578		c.e7+2		GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000373566.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGAACAGGTTTGTGATTAG	0.433																																						uc002vtj.4																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.e6+2		Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.							165	173	170					2																	233613794		2203	4300	6503	SO:0001630	splice_region_variant	26058				cell death		protein binding	g.chr2:233613794T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.267+2T>C	2.37:g.233613794T>C						GIGYF2_uc010zmj.1_Splice_Site_p.Q89_splice|GIGYF2_uc002vtg.2_Splice_Site_p.Q89_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q89_splice|GIGYF2_uc010zmk.2_Splice_Site	p.Q89_splice	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	534	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	89					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Splice_Site	SNP	ENST00000409547.1	37	c.267_splice	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354629	0.82243	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000421433;ENST00000425040;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8529	0.78947	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIGYF2	233322038	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.992000	0.88273	2.149000	0.67028	0.383000	0.25322	.		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	Intron	C	233613794	T	C	233613794	5	2	145	1	0	0	0	0	0	0	1	0	6378	1739	60	4	279	4	GIGYF2	2	233613794	Splice_Site	SNP	T	TCGA-14-4157-01A-01D-1353-08	24500682	233613794	9585579	15	9908											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-																															ttgtgatggagttcctcaacGggggggacctgatgtaccac																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						uc003dgl.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1294-1296)gggfs		Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.							215	220	218					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1647	+		Ovarian(412;0.0728)	432			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			-	53220653	G	-	53220653	7	5	145	1	0	1	0	1	0	0	0	0	12509	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08		53220653	144801777	16	9909											
RAP2B	5912	broad.mit.edu	37	chr3	152880606	152880606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgaagacttttaccgcAaggagattgaggtggactcg	11	9	12	9	3	0	3	0	1	0	2	2	6	0	4	2	3	1	1	2	3	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:152880606A>G	ENST00000323534.2	+	1	578	c.124A>G	c.(124-126)Aag>Gag	p.K42E	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	42					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTTACCGCAAGGAGATTGA	0.627																																						uc003ezr.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(124-126)Aag>Gag		Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.							107	105	106					3																	152880606		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880606A>G		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.124A>G	3.37:g.152880606A>G	ENSP00000319096:p.Lys42Glu						p.K42E	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		0	578	+			42					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.124A>G	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145743	0.77888	.	.	ENSG00000181467	ENST00000323534	T	0.78481	-1.18	4.71	3.53	0.40419	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.89798	0.6819	M	0.94142	3.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.81914	0.995	D	0.90072	0.4164	10	0.87932	D	0	.	9.6905	0.40125	0.8247:0.1753:0.0:0.0	.	42	P61225	RAP2B_HUMAN	E	42	ENSP00000319096:K42E	ENSP00000319096:K42E	K	+	1	0	RAP2B	154363296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.088000	0.76901	0.798000	0.33994	0.460000	0.39030	AAG		0.627	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		G	152880606	A	G	152880606	3	3	145	1	0	0	0	0	1	0	0	0	13041	131	5	4	126	4	RAP2B	3	152880606	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	99659953	152880606	45141824	17	9910											
MCCC1	56922	broad.mit.edu	37	chr3	182775185	182775185	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagcattgccatggtgatCaccaaacacctggacttcta	12	9	7	13	0	2	1	1	1	1	0	2	2	2	2	3	2	3	1	3	2	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:182775185C>G	ENST00000265594.4	-	8	933	c.787G>C	c.(787-789)Gat>Cat	p.D263H	MCCC1_ENST00000539926.1_Missense_Mutation_p.D128H|MCCC1_ENST00000492597.1_Missense_Mutation_p.D154H	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	263	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCATGGTGATCACCAAACACC	0.413																																						uc003fle.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(787-789)Gat>Cat		Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	Biotin(DB00121)						90	75	80					3																	182775185		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182775185C>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.787G>C	3.37:g.182775185C>G	ENSP00000265594:p.Asp263His					MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.D146H|MCCC1_uc003flg.3_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	p.D263H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		7	924	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		263			ATP-grasp.|Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.787G>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457812	0.84317	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64	5.37	5.37	0.77165	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96821	0.9604	10	0.87932	D	0	.	18.6938	0.91593	0.0:1.0:0.0:0.0	.	216;154;263	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	H	263;154;113;128;216;216;154	ENSP00000265594:D263H;ENSP00000419898:D154H;ENSP00000441253:D128H;ENSP00000420433:D216H	ENSP00000265594:D263H	D	-	1	0	MCCC1	184257879	1.000000	0.71417	0.379000	0.26080	0.902000	0.53008	7.161000	0.77505	2.515000	0.84797	0.467000	0.42956	GAT		0.413	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		G	182775185	C	G	182775185	3	3	145	1	0	0	0	0	1	0	0	0	9374	826	29	5	1438	5	MCCC1	3	182775185	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	29894579	182775185	15247245	18	9911											
ZNF595	152687	broad.mit.edu	37	chr4	59387	59387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggaaatgtctggaccCtgcccagcagaatttgtata	12	10	11	8	0	1	2	0	0	1	2	1	4	1	4	2	2	2	2	2	2	4	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:59387C>A	ENST00000509152.2	+	2	253	c.68C>A	c.(67-69)cCt>cAt	p.P23H	ZNF595_ENST00000526473.2_Missense_Mutation_p.P23H|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P23H(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGTCTGGACCCTGCCCAGCAG	0.423																																						uc003fzv.1																			1	Substitution - Missense(1)	p.P23H(1)	lung(1)								c.(67-69)cCt>cAt		Homo sapiens zinc finger protein 595 (ZNF595), mRNA.							367	400	389					4																	59387		2203	4300	6503	SO:0001583	missense	152687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:59387C>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.68C>A	4.37:g.59387C>A	ENSP00000434858:p.Pro23His					ZNF718_uc003fzt.4_Missense_Mutation_p.P23H|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	p.P23H	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	1	224	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	23	I -> T (in Ref. 1; AAI04028).		KRAB.			Missense_Mutation	SNP	ENST00000509152.2	37	c.68C>A		.	.	.	.	.	.	.	.	.	.	C	7.875	0.729054	0.15507	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.02579	4.24;4.24	1.26	-0.063	0.13778	Krueppel-associated box (4);	.	.	.	.	T	0.06826	0.0174	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.38824	-0.9643	8	0.34782	T	0.22	.	4.6601	0.12637	0.5676:0.4323:0.0:0.0	.	23	Q8IYB9	ZN595_HUMAN	H	23	ENSP00000434858:P23H;ENSP00000437878:P23H	ENSP00000434858:P23H	P	+	2	0	ZNF595	49387	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	-0.502000	0.06390	0.655000	0.30866	0.484000	0.47621	CCT		0.423	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		A	59387	C	A	59387	3	1	145	1	0	0	0	0	1	0	0	0	18022	681	24	5	74	5	ZNF595	4	59387	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		59387	191094889	19	9912											
MTHFD2L	441024	broad.mit.edu	37	chr4	75065528	75065528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaccacgttgatgagcgaAcaatatgcaatggaattgcc	14	8	10	9	2	0	3	0	2	0	1	0	5	0	4	2	1	4	2	2	1	5	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:75065528A>G	ENST00000395759.2	+	4	496	c.469A>G	c.(469-471)Aca>Gca	p.T157A	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.T99A|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.T99A|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.T22A	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	157					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGATGAGCGAACAATATGCAA	0.328																																						uc011cbk.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(469-471)Aca>Gca		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.							70	73	72					4																	75065528		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75065528A>G	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.469A>G	4.37:g.75065528A>G	ENSP00000379108:p.Thr157Ala					MTHFD2L_uc011cbj.2_Missense_Mutation_p.T99A|MTHFD2L_uc003hhn.1_Missense_Mutation_p.T99A	p.T157A	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		3	496	+			99					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.469A>G	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	1.230	-0.624333	0.03636	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.27557	1.66;2.07;1.68;1.66;2.08	5.2	4.02	0.46733	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.200985	0.46145	N	0.000311	T	0.15435	0.0372	N	0.13140	0.3	0.34265	D	0.680382	B;B	0.13594	0.008;0.003	B;B	0.20384	0.029;0.011	T	0.19289	-1.0310	10	0.15952	T	0.53	.	6.6643	0.23032	0.8192:0.0:0.1808:0.0	.	157;99	Q9H903;Q9H903-3	MTD2L_HUMAN;.	A	22;157;99;99;99	ENSP00000405692:T22A;ENSP00000379108:T157A;ENSP00000330982:T99A;ENSP00000352012:T99A;ENSP00000321984:T99A	ENSP00000321984:T99A	T	+	1	0	MTHFD2L	75284392	0.929000	0.31497	0.953000	0.39169	0.047000	0.14425	2.191000	0.42640	0.994000	0.38892	0.533000	0.62120	ACA		0.328	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		G	75065528	A	G	75065528	3	3	145	1	0	0	0	0	1	0	0	0	9930	43	2	4	483	4	MTHFD2L	4	75065528	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	75006141	75065528	116088748	20	9913											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367366	184367366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagcaggaaaacagttcaAcgtgtatagggtcggccatc	12	8	11	10	2	2	0	2	0	0	0	4	1	2	1	1	3	3	3	1	3	5	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:184367366A>G	ENST00000504169.1	+	3	736	c.529A>G	c.(529-531)Acg>Gcg	p.T177A	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	177	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACAGTTCAACGTGTATAGG	0.473																																						uc003ivp.1																			0		p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(529-531)Acg>Gcg		Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.							93	92	92					4																	184367366		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367366A>G	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.529A>G	4.37:g.184367366A>G	ENSP00000427108:p.Thr177Ala					CDKN2AIP_uc003ivq.1_5'UTR	p.T177A	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	691	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	177			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.529A>G	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	1.865	-0.461793	0.04508	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.25	-10.5	0.00291	.	1.498860	0.03770	N	0.259612	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	9	0.07644	T	0.81	7.4866	14.3923	0.66989	0.6535:0.1314:0.2151:0.0	.	177	Q9NXV6	CARF_HUMAN	A	177	.	ENSP00000427108:T177A	T	+	1	0	CDKN2AIP	184604360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.746000	0.00795	-4.044000	0.00079	-2.267000	0.00277	ACG		0.473	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		G	184367366	A	G	184367366	3	3	145	1	0	0	0	0	1	0	0	0	3162	43	2	4	539	4	CDKN2AIP	4	184367366	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	109301838	184367366	6786910	21	9914											
TAF7	6879	broad.mit.edu	37	chr5	140698719	140698719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcttgtcgttttgccCtgtcctgggtctcttggagc	2	16	11	12	1	2	0	0	0	2	0	6	2	4	1	3	2	2	1	3	2	0	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:140698719C>A	ENST00000313368.5	-	1	1611	c.893G>T	c.(892-894)aGg>aTg	p.R298M		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	298					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGCCCTGTCCTGGGT	0.453																																						uc003ljg.3																			0		p.D297H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(892-894)aGg>aTg		Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.							158	142	148					5																	140698719		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140698719C>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.893G>T	5.37:g.140698719C>A	ENSP00000312709:p.Arg298Met						p.R298M	NM_005642	NP_005633	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1633	-			298					B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.893G>T	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804227	0.70682	.	.	ENSG00000178913	ENST00000313368	T	0.24538	1.85	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.68952	2.095	0.58432	D	0.999997	D	0.71674	0.998	P	0.60173	0.87	T	0.34601	-0.9822	10	0.44086	T	0.13	-17.1014	14.6781	0.68996	0.0:1.0:0.0:0.0	.	298	Q15545	TAF7_HUMAN	M	298	ENSP00000312709:R298M	ENSP00000312709:R298M	R	-	2	0	TAF7	140678903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.341000	0.65964	2.392000	0.81423	0.655000	0.94253	AGG		0.453	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		A	140698719	C	A	140698719	3	1	145	1	0	0	0	0	1	0	0	0	15529	681	24	5	160	5	TAF7	5	140698719	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		140698719	40216541	22	9915											
CCNG1	900	broad.mit.edu	37	chr5	162868235	162868235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttgatgagaatggaaaAgattgtattggagaaggtgt	15	11	14	1	0	0	5	0	2	0	4	0	8	0	6	0	3	0	1	0	3	5	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:162868235A>G	ENST00000340828.2	+	3	640	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCNG1_ENST00000510664.1_Missense_Mutation_p.K11R|CCNG1_ENST00000393929.1_Missense_Mutation_p.K139R|CCNG1_ENST00000511683.2_Missense_Mutation_p.K5R|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000504553.1_Missense_Mutation_p.K5R|CCNG1_ENST00000512163.1_Missense_Mutation_p.K5R	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	139					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		AGAATGGAAAAGATTGTATTG	0.378																																						uc003lzb.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(415-417)aAg>aGg		Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.							125	121	122					5																	162868235		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162868235A>G	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.416A>G	5.37:g.162868235A>G	ENSP00000344635:p.Lys139Arg					CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.2_Missense_Mutation_p.K3R|CCNG1_uc003lzc.3_Non-coding_Transcript	p.K139R	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	2	650	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	139					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.416A>G	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187019	0.78789	.	.	ENSG00000113328	ENST00000512163;ENST00000393929;ENST00000340828;ENST00000511683;ENST00000510664;ENST00000504553	T;T;T;T;T;T	0.32753	1.53;2.84;2.84;1.53;1.93;1.44	5.23	5.23	0.72850	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.43757	1.38	0.54753	D	0.999988	B	0.29136	0.234	B	0.30029	0.11	T	0.05435	-1.0885	10	0.30078	T	0.28	-1.6368	11.7536	0.51862	0.8529:0.1471:0.0:0.0	.	139	P51959	CCNG1_HUMAN	R	5;139;139;5;11;5	ENSP00000424315:K5R;ENSP00000377506:K139R;ENSP00000344635:K139R;ENSP00000424141:K5R;ENSP00000422379:K11R;ENSP00000427086:K5R	ENSP00000344635:K139R	K	+	2	0	CCNG1	162800813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.688000	0.68227	1.979000	0.57680	0.533000	0.62120	AAG		0.378	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		G	162868235	A	G	162868235	3	3	145	1	0	0	0	0	1	0	0	0	2923	72	3	4	422	4	CCNG1	5	162868235	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	22169516	162868235	18047025	23	9916											
OR2J3	442186	broad.mit.edu	37	chr6	29080438	29080438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatctctctttttcattccGgccatgtgcatgtatctcca	6	17	6	12	1	4	0	1	0	3	0	7	0	5	0	3	1	1	3	3	1	2	5	rs556178725	byFrequency	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:29080438G>A	ENST00000377169.1	+	1	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458													G|||	2	0.000399361	8e-04	0	5008	,	,		21499	0		0	False		,,,				2504	0.001					uc011dll.2																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(769-771)ccG>ccA		Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.							112	112	112					6																	29080438		1246	2560	3806	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080438G>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.771G>A	6.37:g.29080438G>A							p.P257P	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			0	771	+			257					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.771G>A	CCDS43433.1																																																																																				0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			A	29080438	G	A	29080438	2	1	145	1	0	0	0	0	0	0	0	1	11004	1103	39	2		2	OR2J3	6	29080438	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08		29080438	142034629	24	9917											
DNAH8	1769	broad.mit.edu	37	chr6	38783392	38783392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccaccactactgacgTgacccatcaaaacacaggaa	15	4	6	16	1	1	2	1	2	0	0	1	3	1	3	4	1	3	0	4	1	4	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:38783392T>C	ENST00000359357.3	+	24	3085	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	DNAH8_ENST00000441566.1_Missense_Mutation_p.V944A|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	944					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTACTGACGTGACCCATCAA	0.448																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3481-3483)gTg>gCg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							80	66	71					6																	38783392		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38783392T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2831T>C	6.37:g.38783392T>C	ENSP00000352312:p.Val944Ala					DNAH8_uc003ooe.2_Missense_Mutation_p.V944A	p.V1161A	NM_001206927	NP_001193856					25	3591	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3482T>C		.	.	.	.	.	.	.	.	.	.	T	3.872	-0.027627	0.07589	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24350	1.9;1.89;1.86	5.01	-4.4	0.03600	.	2.459610	0.02175	N	0.060021	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	10	0.06891	T	0.86	.	0.4927	0.00566	0.3511:0.2119:0.2608:0.1763	.	944	Q96JB1	DYH8_HUMAN	A	1149;1149;944;944	ENSP00000333363:V1149A;ENSP00000352312:V944A;ENSP00000402294:V944A	ENSP00000333363:V1149A	V	+	2	0	DNAH8	38891370	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.116000	0.10724	-0.574000	0.05990	-0.323000	0.08544	GTG		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38783392	T	C	38783392	3	2	145	1	0	0	0	0	1	0	0	0	4607	1696	59	4	2917	4	DNAH8	6	38783392	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	9702954	38783392	132331675	25	9918											
CD2AP	23607	broad.mit.edu	37	chr6	47512403	47512403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaatgaggatgaactGgagctgaaagtgggagatat	16	7	13	5	0	0	4	0	3	0	1	0	7	0	6	1	3	2	1	1	3	5	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:47512403G>A	ENST00000359314.5	+	4	837	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	127	Interaction with ANLN and localization to the midbody.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGATGAACTGGAGCTGAAAG	0.313																																						uc003oyw.3																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(379-381)ctG>ctA		Homo sapiens CD2-associated protein (CD2AP), mRNA.							108	109	109					6																	47512403		2203	4296	6499	SO:0001819	synonymous_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47512403G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.381G>A	6.37:g.47512403G>A							p.L127L	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		3	837	+			127			Interaction with ANLN and localization to the midbody.|SH3 2.		A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	c.381G>A	CCDS34472.1																																																																																				0.313	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			A	47512403	G	A	47512403	2	1	145	1	0	0	0	0	0	0	0	1	2994	1335	47	3		3	CD2AP	6	47512403	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	8729011	47512403	123602664	26	9919											
C6orf150	115004	broad.mit.edu	37	chr6	74149963	74149963	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcctttgcatgcttGggtacaaggtaaaatggctt	8	16	9	8	0	0	0	0	0	0	0	2	0	2	0	2	3	3	5	2	3	4	7			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:74149963G>T	ENST00000370315.3	-	3	1177	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	MB21D1_ENST00000370318.1_Silent_p.P361P	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	361					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTGCATGCTTGGGTACAAGGT	0.383																																						uc003pgx.1																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1081-1083)ccC>ccA		Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.							85	81	83					6																	74149963		2203	4300	6503	SO:0001819	synonymous_variant	115004							g.chr6:74149963G>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1083C>A	6.37:g.74149963G>T							p.P361P	NM_138441	NP_612450	Q8N884	M21D1_HUMAN			2	1222	-			361					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	c.1083C>A	CCDS4978.1																																																																																				0.383	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		T	74149963	G	T	74149963	2	4	145	1	0	0	0	0	0	0	0	1	2337	1335	47	5		5	C6orf150	6	74149963	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	26637560	74149963	96965104	27	9920											
LPA	4018	broad.mit.edu	37	chr6	160977190	160977190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaccatggtagcactgccGgaccacaggggtttgctcag	9	9	12	11	1	1	0	1	0	0	0	1	1	1	1	3	4	4	4	3	4	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:160977190G>A	ENST00000316300.5	-	30	4884	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W	LPA_ENST00000447678.1_Missense_Mutation_p.R1614W			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCACTGCCGGACCACAGGG	0.463																																						uc003qtl.3																			0		p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4840-4842)Cgg>Tgg		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)						105	108	107					6																	160977190		2161	4296	6457	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160977190G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4840C>T	6.37:g.160977190G>A	ENSP00000321334:p.Arg1614Trp						p.R1614W	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4960	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4122			Kringle 15.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4840C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	9.733	1.162696	0.21538	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63417	-0.04;-0.04	2.61	1.69	0.24217	Kringle (2);Kringle-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.45137	1.4	0.20975	N	0.999814	D	0.89917	1.0	D	0.73380	0.98	T	0.37957	-0.9683	9	0.66056	D	0.02	.	4.9244	0.13885	0.1307:0.2236:0.6457:0.0	.	4122	P08519	APOA_HUMAN	W	1614	ENSP00000321334:R1614W;ENSP00000395608:R1614W	ENSP00000321334:R1614W	R	-	1	2	LPA	160897180	0.960000	0.32886	0.979000	0.43373	0.056000	0.15407	1.450000	0.35134	0.393000	0.25203	0.313000	0.20887	CGG		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	160977190	G	A	160977190	3	1	145	1	0	0	0	0	1	0	0	0	8903	1115	39	2	1322	2	LPA	6	160977190	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	86827227	160977190	10137877	28	9921											
ZNF12	7559	broad.mit.edu	37	chr7	6737438	6737438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtccttgaatgacactGgcccctgaaatggcaccgtg	9	8	10	14	2	0	3	0	3	0	0	1	3	1	3	5	2	0	1	5	2	2	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:6737438G>A	ENST00000405858.1	-	3	561	c.20C>T	c.(19-21)cCa>cTa	p.P7L	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.P7L|ZNF12_ENST00000404360.1_5'UTR	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	7					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGACACTGGCCCCTGAAA	0.493																																						uc003sqt.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(19-21)cCa>cTa		Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.							139	138	139					7																	6737438		2203	4300	6503	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6737438G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.20C>T	7.37:g.6737438G>A	ENSP00000385939:p.Pro7Leu					ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P7L	p.P7L	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	2	574	-		Ovarian(82;0.0776)	7					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.20C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	.	13.41	2.227656	0.39399	.	.	ENSG00000164631	ENST00000405858;ENST00000342651;ENST00000399476;ENST00000394917	T;T;T	0.00717	5.79;5.79;5.79	3.66	3.66	0.41972	Krueppel-associated box (1);	0.422527	0.17667	N	0.166104	T	0.01189	0.0039	L	0.27944	0.81	0.25181	N	0.990203	P;P	0.51653	0.891;0.947	B;P	0.50352	0.439;0.638	T	0.63646	-0.6590	10	0.27082	T	0.32	.	13.6621	0.62374	0.0:0.0:1.0:0.0	.	7;7	P17014;P17014-5	ZNF12_HUMAN;.	L	7;7;65;7	ENSP00000385939:P7L;ENSP00000344745:P7L;ENSP00000378375:P7L	ENSP00000344745:P7L	P	-	2	0	ZNF12	6703963	0.438000	0.25602	0.400000	0.26346	0.970000	0.65996	3.376000	0.52417	2.355000	0.79922	0.563000	0.77884	CCA		0.493	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		A	6737438	G	A	6737438	3	1	145	1	0	0	0	0	1	0	0	0	17715	1348	47	3	2085	3	ZNF12	7	6737438	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08		6737438	152401225	29	9922											
TRRAP	8295	broad.mit.edu	37	chr7	98588209	98588209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcctggttggctcGgagggaaagctgctcttgaa	7	10	13	11	1	2	1	1	1	1	0	3	3	2	3	2	4	3	4	2	4	2	2	rs557915803		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:98588209G>A	ENST00000359863.4	+	63	9944	c.9735G>A	c.(9733-9735)tcG>tcA	p.S3245S	TRRAP_ENST00000355540.3_Silent_p.S3216S|TRRAP_ENST00000446306.3_Silent_p.S3216S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3245	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTGGCTCGGAGGGAAAGC	0.527																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9733-9735)tcG>tcA		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							75	58	64					7																	98588209		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98588209G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9735G>A	7.37:g.98588209G>A						TRRAP_uc011kis.2_Silent_p.S3216S|TRRAP_uc003upr.3_Silent_p.S2933S	p.S3245S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		62	9944	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3245			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.9735G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	3.519	-0.098096	0.07010	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.30417	0.0764	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54964	-0.8214	4	.	.	.	.	0.5558	0.00670	0.3015:0.1457:0.1871:0.3657	.	.	.	.	Q	2956	.	.	R	+	2	0	TRRAP	98426145	0.000000	0.05858	0.008000	0.14137	0.656000	0.38851	-4.996000	0.00162	-4.772000	0.00032	-1.827000	0.00596	CGG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98588209	G	A	98588209	2	1	145	1	0	0	0	0	0	0	0	1	16598	1103	39	2		2	TRRAP	7	98588209	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	91850771	98588209	60550454	30	9923											
RP1	6101	broad.mit.edu	37	chr8	55537403	55537403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaagatgatattgagAaatcaattatttttaatcaa	16	16	5	4	0	3	4	2	3	1	2	3	5	3	4	0	0	0	0	0	0	7	7			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:55537403A>G	ENST00000220676.1	+	4	1109	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	321					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATATTGAGAAATCAATTAT	0.323																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(961-963)Aaa>Gaa		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							59	62	61					8																	55537403		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537403A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.961A>G	8.37:g.55537403A>G	ENSP00000220676:p.Lys321Glu					RP1_uc011ldy.1_Intron	p.K321E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	1109	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	321						Missense_Mutation	SNP	ENST00000220676.1	37	c.961A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011882	0.75046	.	.	ENSG00000104237	ENST00000220676	T	0.61627	0.09	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000008	T	0.77638	0.4160	M	0.82323	2.585	0.48395	D	0.99964	D	0.89917	1.0	D	0.87578	0.998	T	0.81810	-0.0762	10	0.87932	D	0	.	14.8752	0.70488	1.0:0.0:0.0:0.0	.	321	P56715	RP1_HUMAN	E	321	ENSP00000220676:K321E	ENSP00000220676:K321E	K	+	1	0	RP1	55699956	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.957000	0.93082	1.914000	0.55421	0.533000	0.62120	AAA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55537403	A	G	55537403	3	3	145	1	0	0	0	0	1	0	0	0	13532	247	9	4	971	4	RP1	8	55537403	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08		55537403	90826619	31	9924											
ARHGAP39	80728	broad.mit.edu	37	chr8	145758601	145758601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcgctcggggtagcGctctctctgcatgcccatga	5	9	13	14	3	2	1	0	1	2	0	4	1	2	1	1	3	4	5	1	3	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:145758601G>A	ENST00000276826.5	-	7	2905	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R902C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R933C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	902	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCGGGGTAGCGCTCTCTCTGC	0.647																																						uc003zds.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2797-2799)Cgc>Tgc		Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.							80	73	75					8																	145758601		2202	4300	6502	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145758601G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2704C>T	8.37:g.145758601G>A	ENSP00000276826:p.Arg902Cys					ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zdt.1_Missense_Mutation_p.R902C	p.R933C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			9	3352	-			902			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2797C>T		.	.	.	.	.	.	.	.	.	.	G	22.4	4.283487	0.80803	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70516	-0.49;-0.22;-0.49	4.94	4.94	0.65067	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.323778	0.30068	N	0.010483	D	0.85080	0.5615	M	0.88570	2.965	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	D	0.86578	0.1852	10	0.54805	T	0.06	-31.942	11.8579	0.52449	0.0:0.177:0.823:0.0	.	902;933	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	902;933;902	ENSP00000276826:R902C;ENSP00000366522:R933C;ENSP00000445075:R902C	ENSP00000276826:R902C	R	-	1	0	ARHGAP39	145729409	0.001000	0.12720	1.000000	0.80357	0.807000	0.45602	0.932000	0.28884	2.448000	0.82819	0.563000	0.77884	CGC		0.647	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			A	145758601	G	A	145758601	3	1	145	1	0	0	0	0	1	0	0	0	884	1087	38	1	563	1	ARHGAP39	8	145758601	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	90221198	145758601	605421	32	9925											
C9orf21	195827	broad.mit.edu	37	chr9	99413984	99413984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatcactataagggtgAcatttgcttccttaggagaa	12	12	9	8	0	1	2	1	1	0	1	3	3	3	2	2	2	1	1	2	2	5	5	rs374719525		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:99413984A>G	ENST00000375234.3	-	3	271	c.272T>C	c.(271-273)gTc>gCc	p.V91A	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	91																	TATAAGGGTGACATTTGCTTC	0.313																																						uc004awm.3																			0											c.(271-273)gTc>gCc		Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.		A	ALA/VAL	0,4406		0,0,2203	80	86	84		272	4.4	1	9		84	1,8593	1.2+/-3.3	0,1,4296	no	missense	C9orf21	NM_153698.1	64	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	91/227	99413984	1,12999	2203	4297	6500	SO:0001583	missense	195827						antioxidant activity|oxidoreductase activity	g.chr9:99413984A>G	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 21"	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.272T>C	9.37:g.99413984A>G	ENSP00000364382:p.Val91Ala						p.V91A	NM_153698	NP_714542	Q7RTV5	CI021_HUMAN			2	308	-			91					B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	c.272T>C	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.65|16.65	3.183320|3.183320	0.57800|0.57800	0.0|0.0	1.16E-4|1.16E-4	ENSG00000158122|ENSG00000158122	ENST00000411939|ENST00000375234;ENST00000375233	.|T	.|0.51071	.|0.72	4.42|4.42	4.42|4.42	0.53409|0.53409	.|Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (2);	.|0.216139	.|0.39687	.|N	.|0.001298	T|T	0.62208|0.62208	0.2409|0.2409	M|M	0.81497|0.81497	2.545|2.545	0.45318|0.45318	D|D	0.998316|0.998316	.|P	.|0.52316	.|0.952	.|P	.|0.56343	.|0.796	T|T	0.67304|0.67304	-0.5704|-0.5704	5|10	.|0.72032	.|D	.|0.01	-7.574|-7.574	9.8|9.8	0.40759|0.40759	0.8274:0.1726:0.0:0.0|0.8274:0.1726:0.0:0.0	.|.	.|91	.|Q7RTV5	.|CI021_HUMAN	P|A	19|91	.|ENSP00000364382:V91A	.|ENSP00000364381:V91A	S|V	-|-	1|2	0|0	C9orf21|C9orf21	98453805|98453805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.975000|6.975000	0.76128|0.76128	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.313	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		G	99413984	A	G	99413984	3	3	145	1	0	0	0	0	1	0	0	0	2473	275	10	4	424	4	C9orf21	9	99413984	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08		99413984	41799447	33	9926											
OBP2A	29991	broad.mit.edu	37	chr9	138438640	138438640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatcacagggacctggtAcgtgaaggccatggtggtcg	9	7	15	10	2	1	2	1	1	0	1	2	3	1	3	3	5	1	1	3	5	2	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:138438640A>G	ENST00000539850.1	+	2	115	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	OBP2A_ENST00000371776.1_Missense_Mutation_p.Y30C|OBP2A_ENST00000340780.3_Missense_Mutation_p.Y30C|OBP2A_ENST00000342114.4_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	30					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGGACCTGGTACGTGAAGGCC	0.607																																						uc004cgc.3																			0		p.Y30Y(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(88-90)tAc>tGc		Homo sapiens odorant binding protein 2A (OBP2A), mRNA.							15	17	16					9																	138438640		2196	4274	6470	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138438640A>G	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.89A>G	9.37:g.138438640A>G	ENSP00000441028:p.Tyr30Cys					OBP2A_uc004cgb.3_Missense_Mutation_p.Y30C|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron	p.Y30C			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	1	131	+			30					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.89A>G	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	a	12.14	1.847123	0.32606	.	.	ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850	T;T;T	0.22743	1.94;2.33;2.33	2.37	2.37	0.29283	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.381192	0.19305	N	0.117540	T	0.43765	0.1262	M	0.83118	2.625	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.995	T	0.11542	-1.0583	10	0.87932	D	0	-48.1387	6.6981	0.23211	1.0:0.0:0.0:0.0	.	30;30	Q5T8A5;Q9NY56	.;OBP2A_HUMAN	C	30	ENSP00000342097:Y30C;ENSP00000360841:Y30C;ENSP00000441028:Y30C	ENSP00000342097:Y30C	Y	+	2	0	OBP2A	137578461	0.212000	0.23540	0.188000	0.23233	0.028000	0.11728	0.493000	0.22451	1.334000	0.45468	0.450000	0.29827	TAC		0.607	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		G	138438640	A	G	138438640	3	3	145	1	0	0	0	0	1	0	0	0	10810	391	14	4	95	4	OBP2A	9	138438640	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	39024656	138438640	2774791	34	9927											
NMT2	9397	broad.mit.edu	37	chr10	15183429	15183429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagctctcactttcgaagGctgctgaattttaatctcct	9	14	7	11	1	2	2	1	1	2	1	5	3	2	2	1	1	2	3	1	1	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:15183429G>A	ENST00000378165.4	-	2	318	c.238C>T	c.(238-240)Cct>Tct	p.P80S	NMT2_ENST00000535341.1_Silent_p.S52S|NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000378150.1_Silent_p.S52S	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	80					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ACTTTCGAAGGCTGCTGAATT	0.443																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(238-240)Cct>Tct		Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.							154	164	161					10																	15183429		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15183429G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.238C>T	10.37:g.15183429G>A	ENSP00000367407:p.Pro80Ser					NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc010qbz.1_5'UTR	p.P80S	NM_004808	NP_004799	O60551	NMT2_HUMAN			1	322	-			80					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.238C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643165	0.47153	.	.	ENSG00000152465	ENST00000378165;ENST00000378143	T	0.40225	1.04	5.91	5.0	0.66597	.	0.076103	0.56097	N	0.000033	T	0.32734	0.0839	L	0.29908	0.895	0.80722	D	1	B;B	0.16166	0.0;0.016	B;B	0.12837	0.002;0.008	T	0.06092	-1.0846	10	0.36615	T	0.2	-8.4725	14.1759	0.65542	0.0722:0.0:0.9278:0.0	.	80;80	B2RCF3;O60551	.;NMT2_HUMAN	S	80	ENSP00000367407:P80S	ENSP00000367385:P80S	P	-	1	0	NMT2	15223435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.412000	0.59787	1.471000	0.48121	0.655000	0.94253	CCT		0.443	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		A	15183429	G	A	15183429	3	1	145	1	0	0	0	0	1	0	0	0	10504	1203	42	3	1302	3	NMT2	10	15183429	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08		15183429	120351318	35	9928											
MYOZ1	58529	broad.mit.edu	37	chr10	75399754	75399754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcctcttcttattaggggCcggggttcctgagagcggca	5	13	13	10	2	2	1	0	1	2	1	4	2	4	1	3	5	1	2	3	5	2	5			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:75399754C>T	ENST00000359322.4	-	2	386	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TTATTAGGGGCCGGGGTTCCT	0.542																																						uc001jur.3																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(22-24)Gcc>Acc		Homo sapiens myozenin 1 (MYOZ1), mRNA.							159	141	147					10																	75399754		2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75399754C>T	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.22G>A	10.37:g.75399754C>T	ENSP00000352272:p.Ala8Thr						p.A8T	NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN			1	387	-	Prostate(51;0.0112)		8						Missense_Mutation	SNP	ENST00000359322.4	37	c.22G>A	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340385	0.95783	.	.	ENSG00000177791	ENST00000359322	T	0.66638	-0.22	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.79843	-0.1632	10	0.54805	T	0.06	-13.5991	17.6998	0.88291	0.0:1.0:0.0:0.0	.	8	Q9NP98	MYOZ1_HUMAN	T	8	ENSP00000352272:A8T	ENSP00000352272:A8T	A	-	1	0	MYOZ1	75069760	0.998000	0.40836	0.975000	0.42487	0.894000	0.52154	3.819000	0.55686	2.785000	0.95823	0.655000	0.94253	GCC		0.542	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			T	75399754	C	T	75399754	3	4	145	1	0	0	0	0	1	0	0	0	10095	739	26	3	897	3	MYOZ1	10	75399754	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	60216325	75399754	60134993	36	9929											
EBF3	253738	broad.mit.edu	37	chr10	131676050	131676050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaatctccgcatatcTcgagggttgcctgcattctt	7	13	9	12	2	3	0	0	0	3	0	5	2	3	1	3	2	2	3	3	2	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:131676050T>C	ENST00000355311.5	-	7	690	c.618A>G	c.(616-618)cgA>cgG	p.R206R	EBF3_ENST00000368648.3_Silent_p.R206R			Q9H4W6	COE3_HUMAN	early B-cell factor 3	206					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCGCATATCTCGAGGGTTGC	0.368																																						uc021qav.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(574-576)cgA>cgG		Homo sapiens early B-cell factor 3 (EBF3), mRNA.							122	109	113					10																	131676050		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131676050T>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.618A>G	10.37:g.131676050T>C						EBF3_uc001lki.2_Silent_p.R206R	p.R192R	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	677	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	206					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.576A>G																																																																																					0.368	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		C	131676050	T	C	131676050	2	2	145	1	0	0	0	0	0	0	0	1	4882	1538	54	4		4	EBF3	10	131676050	Silent	SNP	T	TCGA-14-4157-01A-01D-1353-08	56276296	131676050	3858697	37	9930											
TEAD1	7003	broad.mit.edu	37	chr11	12902599	12902599	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccaggatcctcacaagaGtaagtctgaggaggggtggg	11	6	16	8	0	2	2	1	1	1	1	3	4	3	4	2	5	1	1	2	5	2	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:12902599G>C	ENST00000526600.1	+	2	447		c.e2+1		TEAD1_ENST00000361905.4_Splice_Site|TEAD1_ENST00000527575.1_Splice_Site|TEAD1_ENST00000527636.1_Splice_Site|TEAD1_ENST00000334310.6_Splice_Site|TEAD1_ENST00000361985.2_Splice_Site			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)						gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTCACAAGAGTAAGTCTGAG	0.547																																						uc021qdx.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.e7+1		Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.							148	131	137					11																	12902599		2200	4294	6494	SO:0001630	splice_region_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12902599G>C	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.224+1G>C	11.37:g.12902599G>C						TEAD1_uc001mkk.4_Splice_Site_p.D75_splice|TEAD1_uc009ygl.3_Splice_Site_p.D50_splice	p.D171_splice	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	7	1132	+			171			Pro-rich.|Transcriptional activation (Potential).		A4FUP2|E7EV65	Splice_Site	SNP	ENST00000526600.1	37	c.512_splice		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771152	0.90108	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0724	0.93145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD1	12859175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.593000	0.87608	0.655000	0.94253	.		0.547	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961	Intron	C	12902599	G	C	12902599	5	2	145	1	0	0	0	0	0	0	1	0	15735	1043	36	5	531	5	TEAD1	11	12902599	Splice_Site	SNP	G	TCGA-14-4157-01A-01D-1353-08		12902599	122103917	38	9931											
OR4C15	81309	broad.mit.edu	37	chr11	55322827	55322827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaataaggaagtaaaaCaggccatgaggagaatatgg	18	6	13	4	0	1	2	1	1	0	1	1	5	1	4	1	5	1	1	1	5	7	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:55322827C>G	ENST00000314644.2	+	1	1045	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGAAGTAAAACAGGCCATGAG	0.328										HNSCC(20;0.049)																												uc010rig.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(1045-1047)Cag>Gag		Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.							80	79	79					11																	55322827		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322827C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1045C>G	11.37:g.55322827C>G	ENSP00000324958:p.Gln349Glu	HNSCC(20;0.049)					p.Q349E	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			0	1045	+			295					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1045C>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	4.573	0.106470	0.08780	.	.	ENSG00000181939	ENST00000314644	T	0.36699	1.24	5.02	1.31	0.21738	.	.	.	.	.	T	0.17959	0.0431	N	0.13098	0.295	0.19300	N	0.999979	B	0.06786	0.001	B	0.01281	0.0	T	0.26326	-1.0106	9	0.87932	D	0	.	0.8722	0.01217	0.4988:0.1688:0.1754:0.157	.	295	Q8NGM1	OR4CF_HUMAN	E	349	ENSP00000324958:Q349E	ENSP00000324958:Q349E	Q	+	1	0	OR4C15	55079403	0.000000	0.05858	0.791000	0.31998	0.021000	0.10359	-0.096000	0.11059	0.050000	0.15949	-0.815000	0.03128	CAG		0.328	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		G	55322827	C	G	55322827	3	3	145	1	0	0	0	0	1	0	0	0	11048	479	17	5	1047	5	OR4C15	11	55322827	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	42420228	55322827	79683689	39	9932											
LRFN4	78999	broad.mit.edu	37	chr11	66626230	66626230	+	Frame_Shift_Del	DEL	G	G	-																															ccaacgggaccttagagattGgggtgaccggcgctggggac																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:66626230delG	ENST00000309602.4	+	1	1258	c.1015delG	c.(1015-1017)gggfs	p.G339fs	PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Frame_Shift_Del_p.G339fs|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	339	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTTAGAGATTGGGGTGACCGG	0.677																																						uc001ojr.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(1015-1017)gggfs		Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.							9	10	9					11																	66626230		2141	4216	6357	SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66626230delG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1015delG	11.37:g.66626230delG	ENSP00000312535:p.Gly339fs					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs	p.G339fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			0	1355	+			339			Ig-like.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.1015delG	CCDS8153.1																																																																																				0.677	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		-	66626230	G	-	66626230	7	5	145	1	0	1	0	1	0	0	0	0	8940	1348	47	0	1017	0	LRFN4	11	66626230	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08	11303403	66626230	68380286	40	9933											
KRT80	144501	broad.mit.edu	37	chr12	52565281	52565281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttcgggagggggcCttggagaggcctgatctgga	5	12	16	8	1	3	2	0	1	3	1	4	5	3	4	2	6	0	0	2	6	0	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:52565281C>T	ENST00000394815.2	-	9	1357	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	420	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGGAGGGGGCCTTGGAGAGGC	0.542																																					GBM(178;2309 2916 15678 35873)	uc001rzw.3																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(1363-1365)aaG>aaA		Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.							43	47	46					12																	52565281		2203	4300	6503	SO:0001819	synonymous_variant	144501					keratin filament	structural molecule activity	g.chr12:52565281C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1260G>A	12.37:g.52565281C>T						KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Silent_p.K420K	p.K455K	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1416	-			420					Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	c.1365G>A	CCDS8821.2																																																																																				0.542	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		T	52565281	C	T	52565281	2	4	145	1	0	0	0	0	0	0	0	1	8494	680	24	3		3	KRT80	12	52565281	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08		52565281	81286614	41	9934											
LRIG3	121227	broad.mit.edu	37	chr12	59271381	59271381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcacactgaggcgcacGtttcctctctcagtgccaag	8	9	11	13	2	3	1	2	1	1	0	5	2	4	2	2	2	1	2	2	2	1	1	rs376403609		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:59271381G>A	ENST00000320743.3	-	15	2623	c.2337C>T	c.(2335-2337)aaC>aaT	p.N779N	LRIG3_ENST00000379141.4_Silent_p.N719N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	779	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAGGCGCACGTTTCCTCTCT	0.532			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2335-2337)aaC>aaT		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.		G	,	3,4403	4.2+/-10.8	0,3,2200	177	143	155		2157,2337	0.7	0.3	12		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	719/1060,779/1120	59271381	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271381G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2337C>T	12.37:g.59271381G>A						LRIG3_uc009zqh.3_Silent_p.N719N|LRIG3_uc010ssh.2_Non-coding_Transcript	p.N779N	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		14	2583	-			779			Ig-like C2-type 3.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2337C>T	CCDS8960.1																																																																																				0.532	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		A	59271381	G	A	59271381	2	1	145	1	0	0	0	0	0	0	0	1	8946	1136	40	1		1	LRIG3	12	59271381	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	6706100	59271381	74580514	42	9935											
ANKLE2	23141	broad.mit.edu	37	chr12	133327271	133327272	+	Frame_Shift_Del	DEL	GA	GA	-																															gagtggagctgttttcacagGagacagtggtaaggacgttt																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:133327271_133327272delGA	ENST00000357997.5	-	3	893_894	c.804_805delTC	c.(802-807)tctcctfs	p.P269fs	ANKLE2_ENST00000539605.1_Frame_Shift_Del_p.P207fs|ANKLE2_ENST00000337516.5_Frame_Shift_Del_p.P269fs	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	269					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTTTCACAGGAGACAGTGGTA	0.426																																						uc001ukx.2																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(802-807)tctcctfs		Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.																																				SO:0001589	frameshift_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327271_133327272delGA	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.804_805delTC	12.37:g.133327273_133327274delGA	ENSP00000350686:p.Pro269fs					ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs	p.S268fs	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	871_872	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	268					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Frame_Shift_Del	DEL	ENST00000357997.5	37	c.804_805delTC	CCDS41869.1																																																																																				0.426	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			-	133327272	GA	-	133327271	7	5	145	1	0	1	0	1	0	0	0	0	633	1174	41	0	2055	0	ANKLE2	12	133327271	Frame_Shift_Del	DEL	GA	TCGA-14-4157-01A-01D-1353-08	74055890	133327271	524624	43	9936											
C14orf21	161424	broad.mit.edu	37	chr14	24769334	24769334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattcgcacccgcacctgagCccggaagctctgggatattt	8	9	11	13	3	1	1	0	1	1	0	2	4	1	3	3	2	2	3	3	2	2	3	rs201814151		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:24769334C>A	ENST00000267425.3	+	1	267	c.174C>A	c.(172-174)agC>agA	p.S58R	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.S58R|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	58							poly(A) RNA binding (GO:0044822)	p.S58R(1)									CGCACCTGAGCCCGGAAGCTC	0.662																																						uc001wol.1																			1	Substitution - Missense(1)	p.S58R(2)	prostate(1)	breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17						c.(172-174)agC>agA		Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.							34	42	39					14																	24769334		2125	4259	6384	SO:0001583	missense	161424						RNA binding	g.chr14:24769334C>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.174C>A	14.37:g.24769334C>A	ENSP00000267425:p.Ser58Arg					C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	p.S58R	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	0	237	+			58					A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.174C>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714358	0.30413	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32272	1.47;1.46	4.82	0.574	0.17368	.	0.193742	0.43110	D	0.000620	T	0.22003	0.0530	L	0.44542	1.39	0.28515	N	0.913331	B	0.06786	0.001	B	0.06405	0.002	T	0.14337	-1.0476	10	0.59425	D	0.04	6.6998	6.7073	0.23258	0.0:0.573:0.2777:0.1493	.	58	Q86U38	CN021_HUMAN	R	58	ENSP00000267425:S58R;ENSP00000380020:S58R	ENSP00000267425:S58R	S	+	3	2	C14orf21	23839174	0.810000	0.29049	0.999000	0.59377	0.007000	0.05969	-0.242000	0.08928	0.186000	0.20125	-1.559000	0.00887	AGC		0.662	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			A	24769334	C	A	24769334	3	1	145	1	0	0	0	0	1	0	0	0	1769	738	26	5	176	5	C14orf21	14	24769334	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		24769334	82580206	44	9937											
C14orf101	54916	broad.mit.edu	37	chr14	57075891	57075891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgctgccctatgtccAccttcccatctcatcttacc	5	15	5	16	0	2	0	1	0	2	0	5	0	4	0	5	1	3	2	5	1	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:57075891A>G	ENST00000261556.6	+	6	826	c.704A>G	c.(703-705)cAc>cGc	p.H235R	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.H235R	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	235						integral component of membrane (GO:0016021)											CCCTATGTCCACCTTCCCATC	0.488																																						uc001xcm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(703-705)cAc>cGc		Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.							293	280	284					14																	57075891		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57075891A>G	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.704A>G	14.37:g.57075891A>G	ENSP00000261556:p.His235Arg					C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	p.H235R	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	5	826	+			235					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.704A>G	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463446	0.63513	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.41758	1.57;0.99	6.06	6.06	0.98353	.	0.114305	0.64402	D	0.000008	T	0.27967	0.0689	N	0.08118	0	0.80722	D	1	B	0.20550	0.046	B	0.17722	0.019	T	0.07947	-1.0746	10	0.59425	D	0.04	-13.0448	16.6245	0.84952	1.0:0.0:0.0:0.0	.	235	Q9NX78	CN101_HUMAN	R	235	ENSP00000261556:H235R;ENSP00000441934:H235R	ENSP00000261556:H235R	H	+	2	0	C14orf101	56145644	1.000000	0.71417	0.930000	0.37139	0.863000	0.49368	9.209000	0.95087	2.323000	0.78572	0.528000	0.53228	CAC		0.488	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		G	57075891	A	G	57075891	3	3	145	1	0	0	0	0	1	0	0	0	1734	159	6	4	726	4	C14orf101	14	57075891	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	32306557	57075891	50273649	45	9938											
PAPOLA	10914	broad.mit.edu	37	chr14	96986512	96986512	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttacacagaaactaatTgagacattgaaaccctttgg	15	11	7	8	0	0	3	0	2	0	2	0	4	0	3	1	1	4	1	1	1	5	6			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:96986512T>G	ENST00000216277.8	+	2	349	c.129T>G	c.(127-129)atT>atG	p.I43M	PAPOLA_ENST00000557471.1_Missense_Mutation_p.I43M|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.I43M|PAPOLA_ENST00000557320.1_Missense_Mutation_p.I43M	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	43					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAACTAATTGAGACATTGA	0.408																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(127-129)atT>atG		Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.							103	94	97					14																	96986512		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96986512T>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.129T>G	14.37:g.96986512T>G	ENSP00000216277:p.Ile43Met					PAPOLA_uc001yfp.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfo.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.3_Missense_Mutation_p.I43M|PAPOLA_uc010twv.2_Missense_Mutation_p.I43M|PAPOLA_uc010avp.3_5'UTR	p.I43M	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	1	346	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	43					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.129T>G	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908317	0.33721	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	4.94	-5.11	0.02901	Poly(A) polymerase, central domain (1);	0.322094	0.32106	N	0.006567	T	0.39809	0.1092	L	0.31845	0.965	0.30556	N	0.764947	P;D;D;P;P	0.55605	0.762;0.972;0.972;0.717;0.923	B;P;P;B;P	0.60345	0.429;0.873;0.873;0.424;0.796	T	0.47724	-0.9095	9	0.46703	T	0.11	.	9.4831	0.38913	0.0:0.4578:0.1072:0.435	.	59;59;43;43;59	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	M	43;43;59;43;43;43	.	ENSP00000216277:I43M	I	+	3	3	PAPOLA	96056265	0.001000	0.12720	0.036000	0.18154	0.961000	0.63080	-1.594000	0.02094	-1.266000	0.02446	0.528000	0.53228	ATT		0.408	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			G	96986512	T	G	96986512	3	3	145	1	0	0	0	0	1	0	0	0	11429	1800	63	5	135	5	PAPOLA	14	96986512	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	39910621	96986512	10363028	46	9939											
WARS	7453	broad.mit.edu	37	chr14	100808747	100808747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaccttggttttgatCtgcttggccgtgtcggtgag	3	15	13	10	2	2	2	1	2	1	0	3	2	2	2	2	3	2	3	2	3	0	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:100808747C>A	ENST00000355338.2	-	9	1719	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.Q326H|WARS_ENST00000557135.1_Missense_Mutation_p.Q367H|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Missense_Mutation_p.Q326H|WARS_ENST00000344102.5_Missense_Mutation_p.Q326H|WARS_ENST00000392882.2_Missense_Mutation_p.Q367H	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	367					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.Q367H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGTTTTGATCTGCTTGGCCG	0.622																																						uc001yhh.1																			1	Substitution - Missense(1)	p.Q367H(2)	lung(1)	breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1099-1101)caG>caT		Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	L-Tryptophan(DB00150)						95	77	83					14																	100808747		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808747C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1101G>T	14.37:g.100808747C>A	ENSP00000347495:p.Gln367His					WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhg.2_Missense_Mutation_p.Q367H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H	p.Q367H	NM_004184	NP_998811	P23381	SYWC_HUMAN			8	1482	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	367					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1101G>T	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596195|3.596195	0.66332|0.66332	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645|ENST00000554601	T;T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7|.	5.73|5.73	3.74|3.74	0.42951|0.42951	.|.	0.056280|.	0.64402|.	D|.	0.000001|.	T|T	0.81479|0.81479	0.4831|0.4831	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	P|.	0.44006|.	0.824|.	P|.	0.50659|.	0.647|.	T|T	0.82006|0.82006	-0.0671|-0.0671	10|5	0.72032|.	D|.	0.01|.	-5.5231|-5.5231	7.3656|7.3656	0.26770|0.26770	0.0:0.6029:0.0:0.3971|0.0:0.6029:0.0:0.3971	.|.	367|.	P23381|.	SYWC_HUMAN|.	H|I	367;326;367;326;367;326|120	ENSP00000376620:Q367H;ENSP00000351481:Q326H;ENSP00000347495:Q367H;ENSP00000339485:Q326H;ENSP00000451460:Q367H;ENSP00000451887:Q326H|.	ENSP00000339485:Q326H|.	Q|R	-|-	3|2	2|0	WARS|WARS	99878500|99878500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	1.508000|1.508000	0.35769|0.35769	0.654000|0.654000	0.30846|0.30846	-0.140000|-0.140000	0.14226|0.14226	CAG|AGA		0.622	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		A	100808747	C	A	100808747	3	1	145	1	0	0	0	0	1	0	0	0	17246	912	32	5	326	5	WARS	14	100808747	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	3822235	100808747	6540793	47	9940											
SPTBN5	51332	broad.mit.edu	37	chr15	42185109	42185109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttggccctgaggaaggCcagagctcggctgctgttct	6	9	13	13	1	1	2	0	1	1	1	2	3	1	3	3	4	2	4	3	4	1	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:42185109C>T	ENST00000320955.6	-	3	594	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	RP11-23P13.6_ENST00000568861.1_RNA|RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	123	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGAGGAAGGCCAGAGCTCGG	0.687																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(262-264)Gcc>Acc		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							31	38	36					15																	42185109		1948	4149	6097	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42185109C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.367G>A	15.37:g.42185109C>T	ENSP00000317790:p.Ala123Thr						p.A88T	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	2	595	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	123			Actin-binding.|CH 1.			Missense_Mutation	SNP	ENST00000320955.6	37	c.262G>A		.	.	.	.	.	.	.	.	.	.	C	14.88	2.667098	0.47677	.	.	ENSG00000137877	ENST00000320955	D	0.95001	-3.58	5.15	4.22	0.49857	Calponin homology domain (5);	0.197230	0.33092	N	0.005289	D	0.84037	0.5384	N	0.08118	0	0.21256	N	0.999741	P	0.44776	0.843	P	0.44860	0.462	T	0.77822	-0.2445	10	0.06099	T	0.92	.	3.9717	0.09455	0.0:0.5763:0.2005:0.2232	.	123	Q9NRC6	SPTN5_HUMAN	T	123	ENSP00000317790:A123T	ENSP00000317790:A123T	A	-	1	0	SPTBN5	39972401	0.996000	0.38824	1.000000	0.80357	0.877000	0.50540	0.848000	0.27710	2.408000	0.81797	0.655000	0.94253	GCC		0.687	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42185109	C	T	42185109	3	4	145	1	0	0	0	0	1	0	0	0	15121	739	26	3	10921	3	SPTBN5	15	42185109	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		42185109	60346283	48	9941											
PDIA3	2923	broad.mit.edu	37	chr15	44055362	44055362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactaccgatttgcacataCgaatgttgagtctctggtga	11	13	9	8	2	1	2	0	2	1	0	2	4	1	2	1	1	4	2	1	1	4	5			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:44055362C>T	ENST00000300289.5	+	5	708	c.560C>T	c.(559-561)aCg>aTg	p.T187M	PDIA3_ENST00000538521.1_Missense_Mutation_p.T167M	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	187					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTGCACATACGAATGTTGAG	0.408																																						uc001zsu.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(559-561)aCg>aTg		Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.							174	152	159					15																	44055362		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44055362C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.560C>T	15.37:g.44055362C>T	ENSP00000300289:p.Thr187Met					PDIA3_uc010bdp.3_Missense_Mutation_p.T167M|PDIA3_uc010ued.2_5'UTR	p.T187M	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	4	708	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	187					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.560C>T	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653775	0.67472	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000538521	D;D	0.82344	-1.6;-1.6	5.72	4.8	0.61643	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92691	0.6166	10	0.87932	D	0	.	16.8008	0.85614	0.0:0.8711:0.1289:0.0	.	167;187	G5EA52;P30101	.;PDIA3_HUMAN	M	187;162;167	ENSP00000300289:T187M;ENSP00000438260:T167M	ENSP00000300289:T187M	T	+	2	0	PDIA3	41842654	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	4.825000	0.62708	1.401000	0.46761	0.563000	0.77884	ACG		0.408	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		T	44055362	C	T	44055362	3	4	145	1	0	0	0	0	1	0	0	0	11669	536	19	1	578	1	PDIA3	15	44055362	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	1870253	44055362	58476030	49	9942											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84442304	84442304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactcgttcagatgaagaCaaagatggcaactgggatgc	15	7	11	8	1	1	4	1	1	0	3	2	5	1	5	0	2	3	2	0	2	4	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:84442304C>T	ENST00000286744.5	+	4	443	c.219C>T	c.(217-219)gaC>gaT	p.D73D	ADAMTSL3_ENST00000567476.1_Silent_p.D73D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	73						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGATGAAGACAAAGATGGCA	0.438																																						uc002bjz.4																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(217-219)gaC>gaT		Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.							132	123	126					15																	84442304		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84442304C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.219C>T	15.37:g.84442304C>T						ADAMTSL3_uc002bjy.1_Silent_p.D73D|ADAMTSL3_uc010bmt.1_Silent_p.D73D	p.D73D	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	443	+			73					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.219C>T	CCDS10326.1																																																																																				0.438	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84442304	C	T	84442304	2	4	145	1	0	0	0	0	0	0	0	1	276	477	17	3		3	ADAMTSL3	15	84442304	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	40386942	84442304	18089088	50	9943											
ZFHX3	463	broad.mit.edu	37	chr16	72831003	72831003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagagtgactctgggctaTagagagttggttctgctgct	7	12	15	7	0	2	3	0	1	2	2	2	4	2	3	0	3	2	6	0	3	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr16:72831003T>C	ENST00000268489.5	-	9	6250	c.5578A>G	c.(5578-5580)Ata>Gta	p.I1860V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.I946V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1860					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGGGCTATAGAGAGTTGG	0.532																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5578-5580)Ata>Gta		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							105	109	108					16																	72831003		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831003T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5578A>G	16.37:g.72831003T>C	ENSP00000268489:p.Ile1860Val					ZFHX3_uc002fcl.3_Missense_Mutation_p.I946V	p.I1860V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	6251	-		Ovarian(137;0.13)	1860					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5578A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	0.202	-1.044061	0.01997	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72505	-0.66;-0.65	5.85	1.7	0.24286	.	0.822182	0.10098	N	0.716339	T	0.43233	0.1238	N	0.08118	0	0.19945	N	0.999946	B	0.06786	0.001	B	0.04013	0.001	T	0.22871	-1.0204	10	0.17369	T	0.5	.	2.4419	0.04497	0.1344:0.226:0.3999:0.2397	.	1860	Q15911	ZFHX3_HUMAN	V	1860;946	ENSP00000268489:I1860V;ENSP00000438926:I946V	ENSP00000268489:I1860V	I	-	1	0	ZFHX3	71388504	1.000000	0.71417	0.883000	0.34634	0.216000	0.24613	1.726000	0.38085	0.104000	0.17725	-0.828000	0.03084	ATA		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72831003	T	C	72831003	3	2	145	1	0	0	0	0	1	0	0	0	17631	1406	49	4	5541	4	ZFHX3	16	72831003	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08		72831003	17523750	51	9944											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	145	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		7578406	73616804	52	9945											
TP53	7157	broad.mit.edu	37	chr17	7578460	7578460	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatggccatggcgcggAcgcgggtgccgggcgggggt	4	6	22	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578460A>C	ENST00000269305.4	-	5	659	c.470T>G	c.(469-471)gTc>gGc	p.V157G	TP53_ENST00000420246.2_Missense_Mutation_p.V157G|TP53_ENST00000445888.2_Missense_Mutation_p.V157G|TP53_ENST00000455263.2_Missense_Mutation_p.V157G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.V157G|TP53_ENST00000359597.4_Missense_Mutation_p.V157G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGGCGCGGACGCGGGTGCC	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		53	Substitution - Missense(16)|Deletion - In frame(14)|Deletion - Frameshift(14)|Whole gene deletion(8)|Complex - frameshift(1)	p.V157F(151)|p.R156P(24)|p.V157D(16)|p.V157G(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.0?(8)|p.V157L(6)|p.V157V(5)|p.R156_I162delRVRAMAI(4)|p.V157del(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156_V157del(2)|p.V157A(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.T155fs*23(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R156fs*20(2)|p.R156C(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.T155_R156delTR(1)|p.R156_V157insV(1)|p.R156del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157fs*23(1)|p.V157fs*25(1)	lung(8)|stomach(6)|oesophagus(6)|breast(5)|ovary(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|biliary_tract(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)gTc>gGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							51	52	51					17																	7578460		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578460A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.470T>G	17.37:g.7578460A>C	ENSP00000269305:p.Val157Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V157G|TP53_uc002gih.3_Missense_Mutation_p.V157G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V25G|TP53_uc010cnf.1_Missense_Mutation_p.V25G|TP53_uc002gii.1_Missense_Mutation_p.V25G|TP53_uc010cni.1_Missense_Mutation_p.V157G|TP53_uc010cnh.1_Missense_Mutation_p.V157G|TP53_uc002gij.2_Missense_Mutation_p.V157G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V64G|TP53_uc002gio.2_Missense_Mutation_p.V25G|TP53_uc010vug.2_Missense_Mutation_p.V118G	p.V157G	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	664	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.470T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342925	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99816	0.9919	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.988;0.998;0.999;1.0	D	0.96765	0.9564	10	0.87932	D	0	-16.7152	13.8032	0.63214	1.0:0.0:0.0:0.0	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157G;ENSP00000352610:V157G;ENSP00000269305:V157G;ENSP00000398846:V157G;ENSP00000391127:V157G;ENSP00000391478:V157G;ENSP00000425104:V25G;ENSP00000423862:V64G;ENSP00000424104:V157G	ENSP00000269305:V157G	V	-	2	0	TP53	7519185	1.000000	0.71417	0.032000	0.17829	0.165000	0.22458	9.287000	0.95975	2.208000	0.71279	0.460000	0.39030	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578460	A	C	7578460	3	2	145	1	0	0	0	0	1	0	0	0	16378	275	10	5	828	5	TP53	17	7578460	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	54	7578460	73616750	53	9946											
ZNF207	7756	broad.mit.edu	37	chr17	30696410	30696410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttggaccaattggaggtAtgatgccaccacagccaggc	11	7	12	11	0	0	1	0	1	0	0	0	3	0	3	4	4	2	2	4	4	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:30696410A>G	ENST00000321233.6	+	10	1367	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	ZNF207_ENST00000394670.4_Missense_Mutation_p.M421V|ZNF207_ENST00000394673.2_Missense_Mutation_p.M390V|ZNF207_ENST00000342555.6_Missense_Mutation_p.M424V|ZNF207_ENST00000577908.1_Missense_Mutation_p.M421V|ZNF207_ENST00000341711.6_Missense_Mutation_p.M322V	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	405					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AATTGGAGGTATGATGCCACC	0.488																																						uc010csz.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1270-1272)Atg>Gtg		Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.							128	130	129					17																	30696410		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696410A>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1213A>G	17.37:g.30696410A>G	ENSP00000322777:p.Met405Val					ZNF207_uc002hhj.4_Missense_Mutation_p.M421V|ZNF207_uc002hhh.4_Missense_Mutation_p.M405V|ZNF207_uc002hhi.4_Missense_Mutation_p.M390V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_Non-coding_Transcript	p.M424V			O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1617	+		Breast(31;0.116)|Ovarian(249;0.182)	405					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1270A>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602260	0.46423	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.40476	1.03;1.03	5.71	5.71	0.89125	.	0.074021	0.85682	D	0.000000	T	0.26122	0.0637	N	0.12182	0.205	0.53688	D	0.999977	B;B;B;B;B	0.25312	0.123;0.058;0.058;0.021;0.021	B;B;B;B;B	0.19666	0.026;0.01;0.01;0.006;0.006	T	0.09751	-1.0660	10	0.16420	T	0.52	.	15.9795	0.80097	1.0:0.0:0.0:0.0	.	374;424;421;390;405	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	V	421;374;424;390;322;405	ENSP00000378165:M421V;ENSP00000344913:M322V	ENSP00000322777:M390V	M	+	1	0	ZNF207	27720523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.168000	0.77570	2.168000	0.68352	0.477000	0.44152	ATG		0.488	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			G	30696410	A	G	30696410	3	3	145	1	0	0	0	0	1	0	0	0	17762	449	16	4	1303	4	ZNF207	17	30696410	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	23117950	30696410	50498800	54	9947											
TAF15	8148	broad.mit.edu	37	chr17	34171636	34171636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagatagaagtgggggcGgctatggtggagacagaagt	11	6	20	4	2	0	4	0	0	0	4	0	6	0	4	0	6	0	1	0	6	4	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:34171636G>A	ENST00000588240.1	+	15	1448	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	TAF15_ENST00000311979.3_Missense_Mutation_p.G442S|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		aagtgggggcggctatggtgg	0.637			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	uc002hkd.3				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1333-1335)Ggc>Agc		Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.							19	20	20					17																	34171636		2201	4298	6499	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171636G>A	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1333G>A	17.37:g.34171636G>A	ENSP00000466950:p.Gly445Ser					TAF15_uc002hkc.3_Missense_Mutation_p.G442S	p.G445S	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	1419	+		Ovarian(249;0.17)	445			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1333G>A	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757355	0.49468	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.95307	-3.67	4.25	2.19	0.27852	.	.	.	.	.	D	0.88392	0.6424	N	0.22421	0.69	0.25123	N	0.990622	B;B	0.19935	0.024;0.04	B;B	0.12837	0.003;0.008	T	0.80315	-0.1434	9	0.46703	T	0.11	-3.3061	8.6324	0.33928	0.1963:0.0:0.8037:0.0	.	445;442	Q92804;Q92804-2	RBP56_HUMAN;.	S	445;248	ENSP00000309558:G445S	ENSP00000309558:G445S	G	+	1	0	TAF15	31195749	0.286000	0.24305	1.000000	0.80357	0.909000	0.53808	0.897000	0.28390	1.019000	0.39547	0.591000	0.81541	GGC		0.637	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		A	34171636	G	A	34171636	3	1	145	1	0	0	0	0	1	0	0	0	15515	1116	39	2	1391	2	TAF15	17	34171636	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	3475226	34171636	47023574	55	9948											
NR1D1	9572	broad.mit.edu	37	chr17	38253028	38253028	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagtaacaccatgccattCagctctgtggaagagacggg	12	7	11	11	1	2	1	1	0	1	1	2	3	2	2	2	2	3	2	2	2	2	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:38253028C>G	ENST00000246672.3	-	3	1005	c.375G>C	c.(373-375)ctG>ctC	p.L125L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	125	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CCATGCCATTCAGCTCTGTGG	0.622																																						uc002htz.2																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(373-375)ctG>ctC		Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.							75	57	63					17																	38253028		2203	4300	6503	SO:0001819	synonymous_variant	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38253028C>G	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.375G>C	17.37:g.38253028C>G						NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_5'UTR	p.L125L	NM_021724	NP_068370	P20393	NR1D1_HUMAN			2	1001	-	Colorectal(19;0.000442)		125					Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	37	c.375G>C	CCDS11361.1																																																																																				0.622	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			G	38253028	C	G	38253028	2	3	145	1	0	0	0	0	0	0	0	1	10615	813	29	5		5	NR1D1	17	38253028	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	4081392	38253028	42942182	56	9949											
FBF1	85302	broad.mit.edu	37	chr17	73922854	73922854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttgatctctcactgTgctggggctcttgtcagaag	6	13	10	12	0	4	2	2	1	2	1	5	2	4	2	2	2	2	2	2	2	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:73922854T>C	ENST00000586717.1	-	9	811	c.538A>G	c.(538-540)Aca>Gca	p.T180A	FBF1_ENST00000389570.4_Missense_Mutation_p.T180A|FBF1_ENST00000319129.5_Missense_Mutation_p.T180A			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	180					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTCTCACTGTGCTGGGGCTC	0.512																																						uc002jqc.3																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(538-540)Aca>Gca		Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.							56	56	56					17																	73922854		1953	4134	6087	SO:0001583	missense	85302							g.chr17:73922854T>C	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.538A>G	17.37:g.73922854T>C	ENSP00000465132:p.Thr180Ala					FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	p.T180A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN			8	812	-			180					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.538A>G		.	.	.	.	.	.	.	.	.	.	T	7.079	0.569877	0.13560	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18338	2.22;2.22	5.28	-2.89	0.05665	.	.	.	.	.	T	0.05731	0.0150	N	0.12182	0.205	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.39921	-0.9590	9	0.06891	T	0.86	-1.0E-4	1.9498	0.03364	0.1112:0.2657:0.3298:0.2933	.	194;180;180	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	A	180;180;180;193	ENSP00000374221:T180A;ENSP00000324292:T180A	ENSP00000324292:T180A	T	-	1	0	FBF1	71434449	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.210000	0.09345	-0.890000	0.03945	0.533000	0.62120	ACA		0.512	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		C	73922854	T	C	73922854	3	2	145	1	0	0	0	0	1	0	0	0	5695	1696	59	4	2947	4	FBF1	17	73922854	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	35669826	73922854	7272356	57	9950											
OR10H2	26538	broad.mit.edu	37	chr19	15839024	15839024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagcgcagcctccacacGcccatgtacctcttcctgtg	7	8	9	17	3	1	0	0	0	1	0	3	1	3	0	5	0	4	2	5	0	1	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:15839024G>A	ENST00000305899.3	+	1	191	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTCCACACGCCCATGTACC	0.612																																						uc002nbm.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(169-171)acG>acA		Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.							205	166	179					19																	15839024		2203	4300	6503	SO:0001819	synonymous_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839024G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.171G>A	19.37:g.15839024G>A							p.T57T	NM_013939	NP_039227	O60403	O10H2_HUMAN			0	191	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		57					Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	c.171G>A	CCDS12333.1																																																																																				0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			A	15839024	G	A	15839024	2	1	145	1	0	0	0	0	0	0	0	1	10906	1074	38	1		1	OR10H2	19	15839024	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08		15839024	43289959	58	9951											
LRP3	4037	broad.mit.edu	37	chr19	33697915	33697915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctgtgctgcagaatcttCgcacagccatgcggagacag	9	8	11	13	2	2	2	0	0	2	2	3	3	2	2	2	1	4	3	2	1	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:33697915C>T	ENST00000253193.7	+	7	1949	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	583					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGAATCTTCGCACAGCCAT	0.721																																						uc010edh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1747-1749)Cgc>Tgc		Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.							4	4	4					19																	33697915		1756	3467	5223	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697915C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1747C>T	19.37:g.33697915C>T	ENSP00000253193:p.Arg583Cys					LRP3_uc002nuk.4_Missense_Mutation_p.R457C	p.R583C	NM_002333	NP_002324	O75074	LRP3_HUMAN			6	1840	+	Esophageal squamous(110;0.137)		583					B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1747C>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096155	0.76870	.	.	ENSG00000130881	ENST00000253193	D	0.94897	-3.55	4.31	3.22	0.36961	.	0.075992	0.52532	D	0.000061	D	0.95708	0.8604	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95768	0.8806	10	0.87932	D	0	-31.7111	13.6924	0.62553	0.1651:0.8349:0.0:0.0	.	583;501	O75074;B7ZAJ9	LRP3_HUMAN;.	C	583	ENSP00000253193:R583C	ENSP00000253193:R583C	R	+	1	0	LRP3	38389755	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	4.314000	0.59166	2.245000	0.73994	0.491000	0.48974	CGC		0.721	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33697915	C	T	33697915	3	4	145	1	0	0	0	0	1	0	0	0	8958	884	31	2	1773	2	LRP3	19	33697915	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	17858891	33697915	25431068	59	9952											
FFAR2	2867	broad.mit.edu	37	chr19	35940825	35940825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagatcatcgaggctgCgtcgaacttccgctggtacc	8	10	10	13	4	2	1	2	0	0	1	5	3	3	1	2	2	3	3	2	2	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:35940825C>T	ENST00000599180.2	+	2	289	c.209C>T	c.(208-210)gCg>gTg	p.A70V	FFAR2_ENST00000246549.2_Missense_Mutation_p.A70V|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	70					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCGAGGCTGCGTCGAACTTC	0.637																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(208-210)gCg>gTg		Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.							50	41	44					19																	35940825		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940825C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.209C>T	19.37:g.35940825C>T	ENSP00000473159:p.Ala70Val					FFAR2_uc010eea.3_Missense_Mutation_p.A70V	p.A70V	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	289	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		70					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.209C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726572	0.30593	.	.	ENSG00000126262	ENST00000246549	T	0.37584	1.19	5.61	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.450275	0.23272	N	0.050009	T	0.31670	0.0804	L	0.58810	1.83	0.09310	N	1	P	0.49307	0.922	B	0.39904	0.313	T	0.21381	-1.0247	10	0.13470	T	0.59	-22.3343	12.8317	0.57750	0.0:0.9202:0.0:0.0798	.	70	O15552	FFAR2_HUMAN	V	70	ENSP00000246549:A70V	ENSP00000246549:A70V	A	+	2	0	FFAR2	40632665	0.000000	0.05858	0.063000	0.19743	0.002000	0.02628	0.405000	0.21015	1.512000	0.48834	0.655000	0.94253	GCG		0.637	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		T	35940825	C	T	35940825	3	4	145	1	0	0	0	0	1	0	0	0	5828	768	27	1	211	1	FFAR2	19	35940825	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	2242910	35940825	23188158	60	9953											
ZNF283	284349	broad.mit.edu	37	chr19	44351487	44351487	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatgtgggaagaattattTaagtgcctatcaactcaatg	15	12	9	5	0	2	2	2	0	0	2	2	3	2	3	1	1	2	0	1	1	8	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:44351487T>A	ENST00000324461.7	+	7	1031	c.734T>A	c.(733-735)tTa>tAa	p.L245*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.L106*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAGAATTATTTAAGTGCCTAT	0.408																																						uc002oxr.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(733-735)tTa>tAa		Homo sapiens zinc finger protein 283 (ZNF283), mRNA.							65	75	72					19																	44351487		2184	4284	6468	SO:0001587	stop_gained	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351487T>A	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.734T>A	19.37:g.44351487T>A	ENSP00000327314:p.Leu245*					ZNF283_uc002oxp.4_Nonsense_Mutation_p.L106*	p.L245*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			6	1002	+		Prostate(69;0.0352)	245					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	c.734T>A	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.241534	0.79912	.	.	ENSG00000167637	ENST00000324461	.	.	.	3.49	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	6.6506	0.22959	0.0:0.1226:0.0:0.8774	.	.	.	.	X	245	.	ENSP00000327314:L245X	L	+	2	0	ZNF283	49043327	0.263000	0.24083	0.389000	0.26208	0.511000	0.34104	-0.105000	0.10907	1.591000	0.50007	0.460000	0.39030	TTA		0.408	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		A	44351487	T	A	44351487	4	1	145	1	0	0	0	0	0	1	0	0	17817	1764	61	5	748	5	ZNF283	19	44351487	Nonsense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	8410662	44351487	14777496	61	9954											
SAE1	10055	broad.mit.edu	37	chr19	47700626	47700626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctgcttcctgaggaCtttgtcaggttggtgtcagt	5	14	12	10	0	2	2	2	2	0	0	3	3	3	3	3	3	1	2	3	3	0	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:47700626C>A	ENST00000270225.7	+	7	938	c.870C>A	c.(868-870)gaC>gaA	p.D290E	SAE1_ENST00000413379.3_Intron|SAE1_ENST00000540850.1_Missense_Mutation_p.D116E|SAE1_ENST00000392776.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.D209E	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	290					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTGAGGACTTTGTCAGGT	0.398																																						uc002pgc.3																			0				endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(868-870)gaC>gaA		Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.							220	188	199					19																	47700626		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47700626C>A	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.870C>A	19.37:g.47700626C>A	ENSP00000270225:p.Asp290Glu					SAE1_uc002pgd.3_Intron|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.D116E|SAE1_uc002pge.3_Missense_Mutation_p.D226E	p.D290E	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	6	978	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	290					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.870C>A	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517963	0.44763	.	.	ENSG00000142230	ENST00000270225;ENST00000540850	T;T	0.38401	1.14;1.14	6.07	3.92	0.45320	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.139953	0.64402	D	0.000005	T	0.21801	0.0525	L	0.33339	1.005	0.44843	D	0.997851	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.0	T	0.08680	-1.0710	10	0.02654	T	1	.	9.5917	0.39550	0.0:0.7665:0.0:0.2335	.	116;290	B4DY66;Q9UBE0	.;SAE1_HUMAN	E	290;116	ENSP00000270225:D290E;ENSP00000440955:D116E	ENSP00000270225:D290E	D	+	3	2	SAE1	52392466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.613000	0.36900	0.851000	0.35264	0.655000	0.94253	GAC		0.398	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		A	47700626	C	A	47700626	3	1	145	1	0	0	0	0	1	0	0	0	13805	564	20	5	896	5	SAE1	19	47700626	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	3349139	47700626	11428357	62	9955											
PRIC285	85441	broad.mit.edu	37	chr20	62200951	62200951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagccggcctggcgggaggCcgggagccaccagagagaag	10	1	19	11	3	0	3	0	0	0	3	0	6	0	5	5	5	2	0	5	5	1	0			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62200951C>T	ENST00000467148.1	-	4	707	c.638G>A	c.(637-639)gGc>gAc	p.G213D	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	213					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGCGGGAGGCCGGGAGCCAC	0.697																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(637-639)gGc>gAc		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							8	9	9					20																	62200951		2129	4223	6352	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200951C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.638G>A	20.37:g.62200951C>T	ENSP00000417401:p.Gly213Asp					PRIC285_uc002yfl.1_5'Flank	p.G213D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		4	1530	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		213					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.638G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.517	-0.863820	0.02590	.	.	ENSG00000130589	ENST00000467148	T	0.02446	4.29	4.5	-1.56	0.08532	.	1.385570	0.04756	N	0.425436	T	0.02767	0.0083	L	0.46157	1.445	0.09310	N	1	P	0.46706	0.883	B	0.39419	0.299	T	0.43130	-0.9410	10	0.16420	T	0.52	-0.6954	3.0794	0.06256	0.1243:0.5494:0.1209:0.2054	.	213	Q9BYK8	PR285_HUMAN	D	213	ENSP00000417401:G213D	ENSP00000417401:G213D	G	-	2	0	RP4-697K14.7	61671395	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.525000	0.06214	-0.646000	0.05452	0.563000	0.77884	GGC		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62200951	C	T	62200951	3	4	145	1	0	0	0	0	1	0	0	0	12485	739	26	3	7398	3	PRIC285	20	62200951	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		62200951	824569	63	9956											
UCKL1	54963	broad.mit.edu	37	chr20	62577191	62577191	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtgcgtggtgaagtcAtaaatgggcaccttgacact	9	10	13	9	2	1	2	1	2	0	0	1	2	1	2	1	3	1	2	1	3	3	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62577191A>T	ENST00000354216.6	-	4	591	c.549T>A	c.(547-549)taT>taA	p.Y183*	UCKL1_ENST00000369908.5_Nonsense_Mutation_p.Y168*|UCKL1_ENST00000369892.3_Nonsense_Mutation_p.Y183*|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Nonsense_Mutation_p.Y183*	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	183					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGTGAAGTCATAAATGGGCA	0.587																																						uc010gkn.3																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(547-549)taT>taA		Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.							229	225	227					20																	62577191		2203	4300	6503	SO:0001587	stop_gained	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577191A>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.549T>A	20.37:g.62577191A>T	ENSP00000346155:p.Tyr183*					UCKL1_uc011abm.2_Nonsense_Mutation_p.Y168*|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript	p.Y183*	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			3	624	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		183					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Nonsense_Mutation	SNP	ENST00000354216.6	37	c.549T>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624113	0.87560	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.64	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9732	11.4587	0.50197	0.5735:0.0:0.4265:0.0	.	.	.	.	X	183;183;183;168	.	ENSP00000346155:Y183X	Y	-	3	2	UCKL1	62047635	0.374000	0.25081	0.952000	0.39060	0.828000	0.46876	-0.436000	0.06922	-0.358000	0.08162	-0.415000	0.06103	TAT		0.587	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		T	62577191	A	T	62577191	4	4	145	1	0	0	0	0	0	1	0	0	16922	224	8	5	1145	5	UCKL1	20	62577191	Nonsense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	376240	62577191	448329	64	9957											
PRPF6	57473	broad.mit.edu	37	chr20	62648082	62648082	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcctctttcaggatgccGaggaatgtgacagggctggg	7	11	15	8	1	2	1	1	1	1	0	3	4	3	3	2	4	1	2	2	4	1	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62648082G>A	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.E511K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCAGGATGCCGAGGAATGTGA	0.512																																						uc002yho.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1531-1533)Gag>Aag		Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.							124	107	113					20																	62648082		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62648082G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+31975C>T	20.37:g.62648082G>A						PRPF6_uc002yhp.3_Missense_Mutation_p.E511K	p.E511K	NM_012469	NP_036601	O94906	PRP6_HUMAN			11	1699	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		511					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1531G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382699	0.82792	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.37411	1.2;1.2	6.16	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.55213	1.73	0.80722	D	1	P;B	0.43701	0.815;0.089	B;B	0.36244	0.22;0.007	T	0.08166	-1.0735	10	0.27785	T	0.31	.	17.0397	0.86486	0.0:0.0:0.8724:0.1276	.	511;511	O94906-2;O94906	.;PRP6_HUMAN	K	511	ENSP00000266079:E511K;ENSP00000446216:E511K	ENSP00000266079:E511K	E	+	1	0	PRPF6	62118526	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.609000	0.82925	2.937000	0.99478	0.650000	0.86243	GAG		0.512	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62648082	G	A	62648082	1	1	145	0	1	0	0	0	0	0	0	0	12574	1059	37	2		2	PRPF6	20	62648082	Intron	SNP	G	TCGA-14-4157-01A-01D-1353-08	70891	62648082	377438	65	9958											
MKL1	57591	broad.mit.edu	37	chr22	40814732	40814737	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-																															tgcttcacgggggtgccgagGggggcgggggcgggggcggg																								rs144888766		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr22:40814732_40814737delGGGGGC	ENST00000355630.3	-	12	2295_2300	c.1705_1710delGCCCCC	c.(1705-1710)gcccccdel	p.AP569del	MKL1_ENST00000407029.1_In_Frame_Del_p.AP569del|MKL1_ENST00000396617.3_In_Frame_Del_p.AP569del|MKL1_ENST00000402042.1_In_Frame_Del_p.AP519del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	569	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGTGCCGAGgggggcgggggcgggg	0.723			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1705-1710)gcccccdel		Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.				75,1267		36,3,632						2.1	0			2	45,3333		21,3,1665	no	coding	MKL1	NM_020831.3		57,6,2297	A1A1,A1R,RR		1.3321,5.5887,2.5424				120,4600				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814732_40814737delGGGGGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1705_1710delGCCCCC	22.37:g.40814738_40814743delGGGGGC	ENSP00000347847:p.Ala569_Pro570del					MKL1_uc010gyf.1_In_Frame_Del_p.AP519del|MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del	p.AP569del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			8	1912_1917	-			569			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.1705_1710delGCCCCC	CCDS14003.1																																																																																				0.723	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		-	40814737	GGGGGC	-	40814732	7	5	145	1	0	1	0	1	0	0	0	0	9601	1219	43	0	1101	0	MKL1	22	40814732	In_Frame_Del	DEL	GGGGGC	TCGA-14-4157-01A-01D-1353-08		40814732	10489834	66	9959											
KIAA2022	340533	broad.mit.edu	37	chrX	73959989	73959989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggacctgttctcgcTccatgtgctttcccttacat	4	16	7	14	1	1	0	0	0	1	0	4	1	3	1	4	1	2	3	4	1	1	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:73959989T>C	ENST00000055682.6	-	3	5014	c.4403A>G	c.(4402-4404)gAg>gGg	p.E1468G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1468					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E1468G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTTCTCGCTCCATGTGCTT	0.473																																						uc004eby.3																			1	Substitution - Missense(1)	p.E1468G(2)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4402-4404)gAg>gGg		Homo sapiens KIAA2022 (KIAA2022), mRNA.							209	164	179					X																	73959989		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73959989T>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4403A>G	X.37:g.73959989T>C	ENSP00000055682:p.Glu1468Gly						p.E1468G	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	5020	-			1468					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4403A>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769015	0.69992	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.39997	1.05;1.05	5.36	5.36	0.76844	.	0.154190	0.56097	D	0.000022	T	0.43055	0.1230	L	0.29908	0.895	0.52099	D	0.999942	D	0.53312	0.959	P	0.50659	0.647	T	0.44112	-0.9349	10	0.87932	D	0	-10.3741	14.4375	0.67293	0.0:0.0:0.0:1.0	.	1468	Q5QGS0	K2022_HUMAN	G	1468	ENSP00000362567:E1468G;ENSP00000055682:E1468G	ENSP00000055682:E1468G	E	-	2	0	KIAA2022	73876714	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	1.789000	0.52484	0.441000	0.28932	GAG		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		C	73959989	T	C	73959989	3	2	145	1	0	0	0	0	1	0	0	0	8269	1551	54	4	155	4	KIAA2022	23	73959989	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08		73959989	81310571	67	9960											
ATRX	546	broad.mit.edu	37	chrX	76937111	76937111	+	Frame_Shift_Del	DEL	G	G	-																															tccctcacctatagaattctGatcatcatcttctatatcag																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:76937111delG	ENST00000373344.5	-	9	3851	c.3637delC	c.(3637-3639)cagfs	p.Q1213fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1175fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1213	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAGAATTCTGATCATCATCT	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3637-3639)cagfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						158	133	142					X																	76937111		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937111delG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3637delC	X.37:g.76937111delG	ENSP00000362441:p.Gln1213fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1175fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q998fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1145fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q1184fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q1158fs	p.Q1213fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	3869	-			1213					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3637delC	CCDS14434.1																																																																																				0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76937111	G	-	76937111	7	5	145	1	0	1	0	1	0	0	0	0	1208	1299	45	0	3949	0	ATRX	23	76937111	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08	2977122	76937111	78333449	68	9961											
DIAPH2	1730	broad.mit.edu	37	chrX	96638984	96638984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttgcaaaagagaaagCtgaacaagaaaagttagaac	23	5	8	5	0	0	4	0	1	0	3	0	5	0	4	0	0	5	3	0	0	11	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:96638984C>T	ENST00000324765.8	+	25	3433	c.3086C>T	c.(3085-3087)gCt>gTt	p.A1029V	DIAPH2_ENST00000355827.4_Missense_Mutation_p.A1029V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A1029V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A1029V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A1025V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1029					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAGAGAAAGCTGAACAAGAA	0.313																																						uc004efu.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(3085-3087)gCt>gTt		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							66	59	61					X																	96638984		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96638984C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3086C>T	X.37:g.96638984C>T	ENSP00000321348:p.Ala1029Val					DIAPH2_uc004eft.4_Missense_Mutation_p.A1029V	p.A1029V	NM_006729	NP_006720	O60879	DIAP2_HUMAN			24	3482	+			1029					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.3086C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885258	0.72410	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.52	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.64402	D	0.000001	T	0.67031	0.2850	M	0.83223	2.63	0.48395	D	0.999648	D;D	0.71674	0.986;0.998	P;D	0.71870	0.876;0.975	T	0.73943	-0.3823	10	0.72032	D	0.01	.	16.6994	0.85344	0.0:1.0:0.0:0.0	.	1029;1029	O60879;O60879-2	DIAP2_HUMAN;.	V	1029;1025;1029;1029;1029;1036	ENSP00000362152:A1029V;ENSP00000362145:A1025V;ENSP00000348082:A1029V;ENSP00000362140:A1029V;ENSP00000321348:A1029V	ENSP00000321348:A1029V	A	+	2	0	DIAPH2	96525640	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.449000	0.60034	2.204000	0.70986	0.544000	0.68410	GCT		0.313	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96638984	C	T	96638984	3	4	145	1	0	0	0	0	1	0	0	0	4519	797	28	3	3184	3	DIAPH2	23	96638984	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	19701873	96638984	58631576	69	9962											
VAMP7	6845	broad.mit.edu	37	chrX	155149532	155149532	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgacaaaacagaaaaTcttgtggattctgtaagtat	15	14	8	4	0	2	3	0	2	2	1	2	4	2	4	0	1	1	2	0	1	6	6			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:155149532T>G	ENST00000286448.6	+	6	654	c.489T>G	c.(487-489)aaT>aaG	p.N163K	VAMP7_ENST00000262640.6_Intron|VAMP7_ENST00000460621.1_Missense_Mutation_p.N122K|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	163	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAACAGAAAATCTTGTGGATT	0.338																																						uc004fnr.3																			0				large_intestine(1)|lung(8)	9						c.(487-489)aaT>aaG		Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.							115	125	122					X																	155149532		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155149532T>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.489T>G	X.37:g.155149532T>G	ENSP00000286448:p.Asn163Lys					VAMP7_uc011naa.2_Missense_Mutation_p.N124K|VAMP7_uc011nab.2_Missense_Mutation_p.N62K|VAMP7_uc004fnt.3_Missense_Mutation_p.N122K|VAMP7_uc004fns.3_Intron|VAMP7_uc011nac.2_Missense_Mutation_p.N96K	p.N163K	NM_005638	NP_005629	P51809	VAMP7_HUMAN			5	667	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		163			v-SNARE coiled-coil homology.		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.489T>G	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	T	8.476	0.858587	0.17178	.	.	ENSG00000124333	ENST00000286448;ENST00000460621	T;T	0.42900	0.96;0.96	3.05	0.206	0.15208	Synaptobrevin (3);	.	.	.	.	T	0.37517	0.1006	.	.	.	0.09310	N	1	P;B;B;B	0.44344	0.833;0.036;0.348;0.273	P;B;B;B	0.49387	0.609;0.043;0.191;0.16	T	0.22591	-1.0212	8	0.25751	T	0.34	.	6.1313	0.20207	0.0:0.509:0.0:0.491	.	96;124;122;163	B4DE96;B4DIH9;P51809-3;P51809	.;.;.;VAMP7_HUMAN	K	163;122	ENSP00000286448:N163K;ENSP00000427822:N122K	ENSP00000286448:N163K	N	+	3	2	VAMP7	154802726	1.000000	0.71417	0.958000	0.39756	0.715000	0.41141	0.532000	0.23067	-0.036000	0.13669	0.235000	0.17854	AAT		0.338	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		G	155149532	T	G	155149532	3	3	145	1	0	0	0	0	1	0	0	0	17114	1432	50	5	507	5	VAMP7	23	155149532	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	58510548	155149532	121028	70	9963											
KIAA1751	85452	broad.mit.edu	37	chr1	1888142	1888142	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgtgcccaagcccccaaCgttggtcagcgtgatggtcc	7	8	12	14	3	1	1	1	1	0	0	3	1	2	1	4	2	4	1	4	2	2	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:1888142C>T								TMEM52 (37430 upstream) : C1orf222 (31420 downstream)																							AAGCCCCCAACGTTGGTCAGC	0.572																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1933-1935)Gtt>Att		Homo sapiens KIAA1751 (KIAA1751), mRNA.							71	78	76					1																	1888142		2163	4276	6439	SO:0001628	intergenic_variant	85452							g.chr1:1888142C>T																													1.37:g.1888142C>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.V645I	p.V645I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	16	2089	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	645						Missense_Mutation	SNP		37	c.1933G>A		.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183686	0.01620	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	-9.5	0.00584	.	2.720810	0.01303	N	0.010353	T	0.25827	0.0629	N	0.16307	0.4	0.20926	N	0.999823	B;B	0.20261	0.043;0.014	B;B	0.15870	0.014;0.005	T	0.20140	-1.0284	9	0.17369	T	0.5	0.3105	15.0979	0.72250	0.0:0.673:0.2226:0.1044	.	645;645	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	I	645;92	.	ENSP00000270720:V645I	V	-	1	0	C1orf222	1878002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.358000	0.01085	-3.090000	0.00248	-1.731000	0.00696	GTT	0	0.572									T	1888142	C	T	1888142	1	4	146	0	1	0	0	0	0	0	0	0	8256	536	19	1		1	KIAA1751	1	1888142	IGR	SNP	C	TCGA-15-0742-01A-01W-0348-08		1888142	247362479	1	9964											
KIF1B	23095	broad.mit.edu	37	chr1	10425498	10425498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccactttttgctgctgcGtgagagacttggtgacagca	7	11	12	11	2	0	3	0	2	0	1	0	4	0	3	2	1	4	3	2	1	0	3	rs375130478		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:10425498G>A	ENST00000377086.1	+	43	4746	c.4544G>A	c.(4543-4545)cGt>cAt	p.R1515H	KIF1B_ENST00000377081.1_Missense_Mutation_p.R1515H|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1469H			O60333	KIF1B_HUMAN	kinesin family member 1B	1515					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTGCTGCGTGAGAGACTT	0.507																																						uc001aqx.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4543-4545)cGt>cAt		Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	72	71	71		4406	5.5	1	1		71	0,8600		0,0,4300	no	missense	KIF1B	NM_015074.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1469/1771	10425498	1,13005	2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425498G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4544G>A	1.37:g.10425498G>A	ENSP00000366290:p.Arg1515His					KIF1B_uc001aqw.4_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.3_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.3_Missense_Mutation_p.R1515H|KIF1B_uc001ara.3_Missense_Mutation_p.R1475H|KIF1B_uc001arb.3_Missense_Mutation_p.R1501H	p.R1515H	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	42	4746	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1515					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4544G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.252181	0.95336	2.27E-4	0.0	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.75821	-0.89;-0.97;-0.97	5.48	5.48	0.80851	.	0.058042	0.64402	D	0.000003	D	0.85340	0.5674	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.988;0.993;1.0;0.999;0.938	D;P;P;D;P;P	0.85130	0.919;0.765;0.875;0.997;0.84;0.49	D	0.85723	0.1326	10	0.59425	D	0.04	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	1501;1475;1515;1489;1515;1469	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1515;1469;1515;1515	ENSP00000263934:R1469H;ENSP00000366290:R1515H;ENSP00000366284:R1515H	ENSP00000263934:R1469H	R	+	2	0	KIF1B	10348085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.915000	0.63355	2.560000	0.86352	0.650000	0.86243	CGT		0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10425498	G	A	10425498	3	1	146	1	0	0	0	0	1	0	0	0	8284	1145	40	1	6053	1	KIF1B	1	10425498	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	8537356	10425498	238825123	2	9965											
RPL11	6135	broad.mit.edu	37	chr1	24019182	24019185	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															atctgtgttggggagagtggAgacagactgacgcgagcagc																										TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:24019182_24019185delAGAC	ENST00000374550.3	+	2	135_138	c.90_93delAGAC	c.(88-93)ggagacfs	p.GD30fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGGAGAGTGGAGACAGACTGACGC	0.544																																						uc001bhk.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(88-93)ggagacfs		Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019182_24019185delAGAC	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.90_93delAGAC	1.37:g.24019186_24019189delAGAC	ENSP00000363676:p.Gly30fs					RPL11_uc001bhl.3_Frame_Shift_Del_p.G29fs	p.G30fs	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	135_138	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	30					P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	c.90_93delAGAC	CCDS238.1																																																																																				0.544	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		-	24019185	AGAC	-	24019182	7	5	146	1	0	1	0	1	0	0	0	0	13557	291	11	0	96	0	RPL11	1	24019182	Frame_Shift_Del	DEL	AGAC	TCGA-15-0742-01A-01W-0348-08	13593684	24019182	225231439	3	9966											
CNKSR1	10256	broad.mit.edu	37	chr1	26507077	26507077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggagctcatcctgggCggggtggaacagctccaggc	8	5	15	13	1	1	0	1	0	0	0	3	2	3	2	3	6	3	2	3	6	1	0	rs200570653		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:26507077C>T	ENST00000374253.5	+	2	225	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Silent_p.G62G	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	62	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		17776	0		0	False		,,,				2504	0				NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(184-186)ggC>ggT		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.		C		5,4401	11.4+/-27.6	0,5,2198	46	51	49		186	-3.8	0.2	1		49	0,8600		0,0,4300	no	coding-synonymous	CNKSR1	NM_006314.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		62/714	26507077	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507077C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.186C>T	1.37:g.26507077C>T						CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.G62G	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	244	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	62			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.186C>T																																																																																					0.657	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26507077	C	T	26507077	2	4	146	1	0	0	0	0	0	0	0	1	3606	755	27	1		1	CNKSR1	1	26507077	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	2487895	26507077	222743544	4	9967											
TACSTD2	4070	broad.mit.edu	37	chr1	59042498	59042498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgccttgaagcggccctCggggtcgcagtcggggtcgt	3	7	18	13	7	0	1	0	1	0	0	4	1	0	1	2	5	1	1	2	5	1	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:59042498C>T	ENST00000371225.2	-	1	668	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	111	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					AAGCGGCCCTCGGGGTCGCAG	0.706																																						uc001cyz.4																			0											c.(331-333)Gag>Aag		Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.							16	13	14					1																	59042498		2189	4287	6476	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042498C>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.331G>A	1.37:g.59042498C>T	ENSP00000360269:p.Glu111Lys						p.E111K	NM_002353	NP_002344	P09758	TACD2_HUMAN			0	669	-	all_cancers(7;6.54e-05)		111			Thyroglobulin type-1.		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.331G>A	CCDS609.1	.	.	.	.	.	.	.	.	.	.	C	6.913	0.538085	0.13188	.	.	ENSG00000184292	ENST00000371225	T	0.62498	0.02	4.39	-0.15	0.13416	Thyroglobulin type-1 (6);	0.548561	0.20296	N	0.095136	T	0.22475	0.0542	N	0.01048	-1.04	0.09310	N	1	B	0.27997	0.197	B	0.26614	0.071	T	0.26155	-1.0111	10	0.15066	T	0.55	-23.6061	3.8314	0.08876	0.1477:0.2482:0.4919:0.1121	.	111	P09758	TACD2_HUMAN	K	111	ENSP00000360269:E111K	ENSP00000360269:E111K	E	-	1	0	TACSTD2	58815086	0.275000	0.24201	0.141000	0.22245	0.836000	0.47400	1.541000	0.36126	0.089000	0.17243	-0.305000	0.09177	GAG		0.706	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		T	59042498	C	T	59042498	3	4	146	1	0	0	0	0	1	0	0	0	15505	893	31	2	644	2	TACSTD2	1	59042498	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	32535421	59042498	190208123	5	9968											
CCDC18	343099	broad.mit.edu	37	chr1	93698049	93698049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagacttctgagcaaaacGttattctacagcatactctt	14	12	6	9	1	3	2	0	1	3	1	3	3	3	2	0	0	5	3	0	0	6	6	rs200030282		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:93698049G>A	ENST00000343253.7	+	18	2858	c.2356G>A	c.(2356-2358)Gtt>Att	p.V786I	CCDC18_ENST00000334652.5_Missense_Mutation_p.V82I|CCDC18_ENST00000401026.3_Missense_Mutation_p.V787I|CCDC18_ENST00000557479.1_Missense_Mutation_p.V905I|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.V542I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	786										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGCAAAACGTTATTCTACA	0.318													G|||	1	0.000199681	0	0.0014	5008	,	,		17350	0		0	False		,,,				2504	0					uc021opx.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2359-2361)Gtt>Att		Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.							106	101	103					1																	93698049		1833	4098	5931	SO:0001583	missense	343099							g.chr1:93698049G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2356G>A	1.37:g.93698049G>A	ENSP00000343377:p.Val786Ile					CCDC18_uc009wdl.1_Missense_Mutation_p.V422I	p.V787I	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2520	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	786					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2359G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.121	-0.401516	0.04865	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	.	.	.	5.71	3.84	0.44239	.	0.494876	0.21216	N	0.078226	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	1	B;B	0.25809	0.135;0.002	B;B	0.16722	0.016;0.002	T	0.25152	-1.0140	9	0.21540	T	0.41	.	9.6847	0.40091	0.1498:0.1218:0.7284:0.0	.	786;905	Q5T9S5;G3V388	CCD18_HUMAN;.	I	786;787;905;542;82;462	.	ENSP00000334084:V82I	V	+	1	0	CCDC18	93470637	0.996000	0.38824	0.436000	0.26797	0.034000	0.12701	1.584000	0.36589	0.771000	0.33359	-1.305000	0.01319	GTT		0.318	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		A	93698049	G	A	93698049	3	1	146	1	0	0	0	0	1	0	0	0	2794	1145	40	1	2783	1	CCDC18	1	93698049	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	34655551	93698049	155552572	6	9969											
NOTCH2	4853	broad.mit.edu	37	chr1	120510196	120510196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactcacagtggaaggcgCcatccgtgttcacacatttt	10	10	9	12	2	2	0	2	0	0	0	3	2	3	1	2	2	0	1	2	2	1	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:120510196C>T	ENST00000256646.2	-	8	1532	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	438	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGAAGGCGCCATCCGTGTT	0.478			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1312-1314)gGc>gAc		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							165	131	142					1																	120510196		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510196C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1313G>A	1.37:g.120510196C>T	ENSP00000256646:p.Gly438Asp					NOTCH2_uc001eil.3_Missense_Mutation_p.G438D|NOTCH2_uc021osy.1_Missense_Mutation_p.G399D|NOTCH2_uc001eim.4_Missense_Mutation_p.G355D	p.G438D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1610	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	438			EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1313G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158218	0.78114	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.99557	-6.16	5.53	5.53	0.82687	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36338	U	0.002656	D	0.99576	0.9847	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98588	1.0653	10	0.62326	D	0.03	.	18.4574	0.90725	0.0:1.0:0.0:0.0	.	399;438;438	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	D	438;399	ENSP00000256646:G438D	ENSP00000256646:G438D	G	-	2	0	NOTCH2	120311719	1.000000	0.71417	0.984000	0.44739	0.376000	0.30014	7.487000	0.81328	2.585000	0.87301	0.650000	0.86243	GGC		0.478	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		T	120510196	C	T	120510196	3	4	146	1	0	0	0	0	1	0	0	0	10548	739	26	3	6210	3	NOTCH2	1	120510196	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26812147	120510196	128740425	7	9970											
LOXL3	84695	broad.mit.edu	37	chr2	74779634	74779634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccagccagccggaacCgaagcccctggctcccggcc	8	2	13	18	3	0	0	0	0	0	0	1	3	1	2	8	4	5	1	8	4	3	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:74779634C>T	ENST00000264094.3	-	2	199	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000393937.2_Missense_Mutation_p.R43Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.R43Q|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.R43Q|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409249.1_Missense_Mutation_p.R43Q|DOK1_ENST00000340004.6_5'Flank	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	43					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGCCGGAACCGAAGCCCCTG	0.662																																						uc002smp.1																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(127-129)cGg>cAg		Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.							20	22	22					2																	74779634		2184	4273	6457	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779634C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.128G>A	2.37:g.74779634C>T	ENSP00000264094:p.Arg43Gln					LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.3_Intron|DOK1_uc002sms.3_5'Flank|DOK1_uc010ffo.3_5'Flank|DOK1_uc002smt.3_5'Flank|DOK1_uc002smu.3_5'Flank|DOK1_uc010yrz.2_5'Flank|DOK1_uc002smw.1_5'Flank	p.R43Q	NM_032603	NP_115992	P58215	LOXL3_HUMAN			1	200	-			43					D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.128G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894335	0.17613	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	4.8	4.8	0.61643	Speract/scavenger receptor-related (1);	0.129197	0.49916	D	0.000121	T	0.12347	0.0300	L	0.27053	0.805	0.80722	D	1	P;B;B;P	0.48640	0.711;0.022;0.216;0.913	B;B;B;B	0.34038	0.04;0.003;0.022;0.174	T	0.11690	-1.0577	10	0.02654	T	1	.	13.2328	0.59953	0.0:1.0:0.0:0.0	.	43;43;43;43	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Q	43	ENSP00000264094:R43Q;ENSP00000387103:R43Q;ENSP00000377512:R43Q;ENSP00000386696:R43Q;ENSP00000386545:R43Q;ENSP00000398260:R43Q	ENSP00000264094:R43Q	R	-	2	0	LOXL3	74633142	0.985000	0.35326	1.000000	0.80357	0.975000	0.68041	2.318000	0.43779	2.501000	0.84356	0.555000	0.69702	CGG		0.662	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		T	74779634	C	T	74779634	3	4	146	1	0	0	0	0	1	0	0	0	8901	652	23	2	2185	2	LOXL3	2	74779634	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		74779634	168419739	8	9971											
LONRF2	164832	broad.mit.edu	37	chr2	100916305	100916305	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgcctttttatcctcttCaaagtgtagacccagtataa	12	14	5	10	1	2	1	1	0	1	1	3	1	3	1	3	0	1	2	3	0	6	8			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:100916305C>A	ENST00000393437.3	-	5	1780	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	LONRF2_ENST00000409647.1_Nonsense_Mutation_p.E138*	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	381							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATCCTCTTCAAAGTGTAGA	0.413																																						uc002tal.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1141-1143)Gaa>Taa		Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.							71	68	69					2																	100916305		2203	4300	6503	SO:0001587	stop_gained	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916305C>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1141G>T	2.37:g.100916305C>A	ENSP00000377086:p.Glu381*					LONRF2_uc010yvs.2_Non-coding_Transcript	p.E381*	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			4	1781	-			381					B9A006|Q6ZSR4	Nonsense_Mutation	SNP	ENST00000393437.3	37	c.1141G>T	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	43	10.507902	0.99418	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	.	.	.	4.17	2.34	0.29019	.	0.724109	0.13409	N	0.390022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-10.8787	9.7487	0.40462	0.0:0.868:0.0:0.132	.	.	.	.	X	381;138	.	ENSP00000377086:E381X	E	-	1	0	LONRF2	100282737	0.988000	0.35896	0.035000	0.18076	0.709000	0.40893	1.323000	0.33701	0.335000	0.23614	0.555000	0.69702	GAA		0.413	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		A	100916305	C	A	100916305	4	1	146	1	0	0	0	0	0	1	0	0	8895	835	29	5	1155	5	LONRF2	2	100916305	Nonsense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26136671	100916305	142283068	9	9972											
SLC20A1	6574	broad.mit.edu	37	chr2	113417335	113417335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccatggtggcaatgacGtaaggtcagttgacattgat	10	11	12	8	2	1	3	1	3	0	0	2	3	1	3	1	3	0	3	1	3	2	3	rs142437239		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:113417335G>A	ENST00000272542.3	+	8	2142	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCAATGACGTAAGGTCAGT	0.458																																						uc002tib.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1603-1605)Gta>Ata		Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.		G	ILE/VAL	0,4406		0,0,2203	97	91	93		1603	5.5	1	2	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC20A1	NM_005415.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	535/680	113417335	2,13004	2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417335G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1603G>A	2.37:g.113417335G>A	ENSP00000272542:p.Val535Ile					SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	p.V535I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			7	2142	+			535					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1603G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580678	0.86748	0.0	2.33E-4	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.91237	-2.81	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.92792	0.6249	10	0.33940	T	0.23	-22.7763	16.8296	0.85940	0.0:0.0:1.0:0.0	.	535;535	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	I	535;347	ENSP00000272542:V535I	ENSP00000272542:V535I	V	+	1	0	SLC20A1	113133806	1.000000	0.71417	0.991000	0.47740	0.781000	0.44180	9.869000	0.99810	2.578000	0.87016	0.655000	0.94253	GTA		0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		A	113417335	G	A	113417335	3	1	146	1	0	0	0	0	1	0	0	0	14438	1145	40	1	1629	1	SLC20A1	2	113417335	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	12501030	113417335	129782038	10	9973											
LRP1B	53353	broad.mit.edu	37	chr2	141072536	141072536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgcaagttcctccattcTggcagtagttgctacagtgg	8	12	11	10	1	1	0	0	0	1	0	3	0	3	0	2	2	3	7	2	2	4	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072536T>C	ENST00000389484.3	-	83	13744	c.12773A>G	c.(12772-12774)cAg>cGg	p.Q4258R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4258	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTCCATTCTGGCAGTAGTT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12772-12774)cAg>cGg		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							131	123	126					2																	141072536		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072536T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12773A>G	2.37:g.141072536T>C	ENSP00000374135:p.Gln4258Arg	TSP Lung(27;0.18)					p.Q4258R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	82	13745	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4258			EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12773A>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.870|7.870	0.727912|0.727912	0.15507|0.15507	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.92752|.	-3.1|.	5.9|5.9	5.9|5.9	0.94986|0.94986	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.171316|.	0.38720|.	N|.	0.001593|.	T|T	0.31734|0.31734	0.0806|0.0806	N|N	0.16233|0.16233	0.39|0.39	0.30453|0.30453	N|N	0.77502|0.77502	P|.	0.38677|.	0.642|.	B|.	0.34418|.	0.182|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.11182|.	T|.	0.66|.	.|.	11.4189|11.4189	0.49969|0.49969	0.1347:0.0:0.0:0.8653|0.1347:0.0:0.0:0.8653	.|.	4258|.	Q9NZR2|.	LRP1B_HUMAN|.	R|G	4258;4196|490	ENSP00000374135:Q4258R|.	ENSP00000374135:Q4258R|.	Q|R	-|-	2|1	0|2	LRP1B|LRP1B	140789006|140789006	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.206000|2.206000	0.42779|0.42779	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141072536	T	C	141072536	3	2	146	1	0	0	0	0	1	0	0	0	8955	1580	55	4	1062	4	LRP1B	2	141072536	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	27655201	141072536	102126837	11	9974											
LRP1B	53353	broad.mit.edu	37	chr2	141072633	141072633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcatttaaaatgcatcTtcctccattttcacaagtta	11	18	2	10	0	3	0	2	0	2	0	6	0	5	0	2	0	1	2	2	0	4	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072633T>C	ENST00000389484.3	-	83	13647	c.12676A>G	c.(12676-12678)Aga>Gga	p.R4226G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4226	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAATGCATCTTCCTCCATTT	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12676-12678)Aga>Gga		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							127	115	119					2																	141072633		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072633T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12676A>G	2.37:g.141072633T>C	ENSP00000374135:p.Arg4226Gly	TSP Lung(27;0.18)					p.R4226G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	82	13648	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4226			EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12676A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638982	0.47153	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.42513	0.97	6.06	2.17	0.27698	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.309553	0.28219	N	0.016142	T	0.32071	0.0817	L	0.44542	1.39	0.31664	N	0.645151	P	0.36282	0.546	B	0.32980	0.156	T	0.27331	-1.0077	10	0.23302	T	0.38	.	13.5519	0.61736	0.0:0.0:0.3684:0.6316	.	4226	Q9NZR2	LRP1B_HUMAN	G	4226;4164	ENSP00000374135:R4226G	ENSP00000374135:R4226G	R	-	1	2	LRP1B	140789103	0.998000	0.40836	0.989000	0.46669	0.990000	0.78478	2.608000	0.46308	0.130000	0.18549	0.533000	0.62120	AGA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141072633	T	C	141072633	3	2	146	1	0	0	0	0	1	0	0	0	8955	1617	56	4	1159	4	LRP1B	2	141072633	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	97	141072633	102126740	12	9975											
LRP1B	53353	broad.mit.edu	37	chr2	141092130	141092130	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtccagtacatcatccTgaagagagcgggtcagagag	14	6	12	9	1	2	3	2	1	0	2	4	5	4	3	2	1	3	1	2	1	3	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141092130T>C	ENST00000389484.3	-	79	13088		c.e79-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACATCATCCTGAAGAGAGCG	0.483										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e79-1		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							120	108	112					2																	141092130		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092130T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12117-2A>G	2.37:g.141092130T>C		TSP Lung(27;0.18)					p.G4039_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13089	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4039					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.12117_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929109	0.73327	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000437977	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3246	0.82970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140808600	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	7.575000	0.82447	2.333000	0.79357	0.482000	0.46254	.		0.483	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	C	141092130	T	C	141092130	5	2	146	1	0	0	0	0	0	0	1	0	8955	1594	55	4	1736	4	LRP1B	2	141092130	Splice_Site	SNP	T	TCGA-15-0742-01A-01W-0348-08	19497	141092130	102107243	13	9976											
CHL1	10752	broad.mit.edu	37	chr3	439999	439999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggagctgaacatatagttCgcctaatgactaagaattgg	13	10	11	7	2	0	3	0	2	0	1	1	4	0	4	1	2	2	2	1	2	6	6	rs555557287		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:439999C>T	ENST00000256509.2	+	25	3826	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	CHL1_ENST00000397491.2_Missense_Mutation_p.R1046C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACATATAGTTCGCCTAATGAC	0.388													C|||	1	0.000199681	0	0	5008	,	,		16635	0.001		0	False		,,,				2504	0					uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3184-3186)Cgc>Tgc		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							82	80	80					3																	439999		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439999C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3184C>T	3.37:g.439999C>T	ENSP00000256509:p.Arg1062Cys					CHL1_uc003bou.3_Missense_Mutation_p.R1046C|CHL1_uc003bow.2_Missense_Mutation_p.R1046C|CHL1_uc011asi.2_Intron	p.R1062C	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3826	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1046					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3184C>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761187	0.69763	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.62232	0.04;0.06	5.72	5.72	0.89469	.	0.399817	0.28016	N	0.016923	T	0.67785	0.2930	N	0.24115	0.695	0.58432	D	0.999996	B;D	0.89917	0.098;1.0	B;D	0.66084	0.016;0.941	T	0.68123	-0.5492	10	0.45353	T	0.12	.	18.0416	0.89320	0.0:1.0:0.0:0.0	.	1046;1062	O00533;O00533-2	CHL1_HUMAN;.	C	1062;1046	ENSP00000256509:R1062C;ENSP00000380628:R1046C	ENSP00000256509:R1062C	R	+	1	0	CHL1	414999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.858000	0.62947	2.711000	0.92665	0.650000	0.86243	CGC		0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	439999	C	T	439999	3	4	146	1	0	0	0	0	1	0	0	0	3349	884	31	2	3274	2	CHL1	3	439999	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		439999	197582431	14	9977											
SCN11A	11280	broad.mit.edu	37	chr3	38951639	38951639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagttgtcaaaattcGtataattatagtcaggatta	16	13	7	5	1	2	0	2	0	0	0	3	1	2	1	1	1	1	2	1	1	8	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:38951639G>A	ENST00000302328.3	-	8	1217	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	SCN11A_ENST00000444237.2_Missense_Mutation_p.T340M|SCN11A_ENST00000456224.3_Missense_Mutation_p.T340M|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.T340M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	340					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCAAAATTCGTATAATTATA	0.363																																						uc021wvy.1																			0		p.T340T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1018-1020)aCg>aTg		Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	Cocaine(DB00907)						108	99	102					3																	38951639		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38951639G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1019C>T	3.37:g.38951639G>A	ENSP00000307599:p.Thr340Met						p.T340M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	7	1218	-			340					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1019C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143056	0.77888	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.24	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.81341	2.54	0.45662	D	0.998585	D	0.89917	1.0	D	0.97110	1.0	D	0.99643	1.0989	10	0.87932	D	0	.	13.7993	0.63190	0.0741:0.0:0.9259:0.0	.	340	Q9UI33	SCNBA_HUMAN	M	340	ENSP00000307599:T340M;ENSP00000400945:T340M;ENSP00000416757:T340M;ENSP00000408028:T340M	ENSP00000307599:T340M	T	-	2	0	SCN11A	38926643	1.000000	0.71417	0.276000	0.24689	0.909000	0.53808	9.869000	0.99810	1.216000	0.43427	0.557000	0.71058	ACG		0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		A	38951639	G	A	38951639	3	1	146	1	0	0	0	0	1	0	0	0	13913	1145	40	1	4432	1	SCN11A	3	38951639	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	38511640	38951639	159070791	15	9978											
COL6A5	256076	broad.mit.edu	37	chr3	130187963	130187963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatacaccaaatgaaacAtcatctccaagactctcaac	17	8	3	13	0	3	2	2	1	2	1	5	2	3	2	2	0	3	1	2	0	6	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:130187963A>T	ENST00000432398.2	+	38	7609	c.7115A>T	c.(7114-7116)cAt>cTt	p.H2372L	COL6A5_ENST00000265379.6_Missense_Mutation_p.H2372L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2372	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAAATGAAACATCATCTCCAA	0.428																																						uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7114-7116)cAt>cTt		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.							91	82	85					3																	130187963		1908	4125	6033	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130187963A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7115A>T	3.37:g.130187963A>T	ENSP00000390895:p.His2372Leu					COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.H411L|COL6A5_uc010htk.1_Missense_Mutation_p.H411L	p.H2372L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7609	+			2372			Nonhelical region.|VWFA 10.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7115A>T		.	.	.	.	.	.	.	.	.	.	A	2.232	-0.375821	0.05034	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.35	-3.43	0.04810	von Willebrand factor, type A (3);	1.122770	0.06780	N	0.785124	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	P;B	0.36183	0.542;0.108	B;B	0.38755	0.281;0.089	T	0.39542	-0.9609	10	0.37606	T	0.19	.	11.5921	0.50951	0.3645:0.0:0.6355:0.0	.	2372;2372	A8TX70;A8TX70-2	CO6A5_HUMAN;.	L	2372;2372;315;207	ENSP00000390895:H2372L;ENSP00000265379:H2372L;ENSP00000362250:H315L;ENSP00000424968:H207L	ENSP00000265379:H2372L	H	+	2	0	COL6A5	131670653	0.000000	0.05858	0.305000	0.25099	0.042000	0.13812	-0.007000	0.12810	-0.522000	0.06417	-0.912000	0.02778	CAT		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130187963	A	T	130187963	3	4	146	1	0	0	0	0	1	0	0	0	3702	217	8	5	7261	5	COL6A5	3	130187963	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	91236324	130187963	67834467	16	9979											
PLSCR1	5359	broad.mit.edu	37	chr3	146239654	146239654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacaacaacagctgctaCatcttagtggtctctccaga	12	9	9	11	0	2	1	0	0	2	1	4	2	3	2	1	2	5	2	1	2	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:146239654C>T	ENST00000342435.4	-	6	952	c.542G>A	c.(541-543)tGt>tAt	p.C181Y	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.C174Y|PLSCR1_ENST00000448787.2_Missense_Mutation_p.C100Y	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	181	Cys-rich.				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACAGCTGCTACATCTTAGTGG	0.438																																						uc003evx.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(541-543)tGt>tAt		Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.							90	94	93					3																	146239654		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146239654C>T	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.542G>A	3.37:g.146239654C>T	ENSP00000345494:p.Cys181Tyr					PLSCR1_uc011bnn.2_Missense_Mutation_p.C100Y|PLSCR1_uc003evz.4_Intron	p.C181Y	NM_021105	NP_066928	O15162	PLS1_HUMAN			5	930	-			181			Cys-rich.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.542G>A	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.375658	0.42105	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666;ENST00000486631;ENST00000472349	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.45	4.57	0.56435	.	.	.	.	.	T	0.62877	0.2464	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75777	-0.3198	9	0.87932	D	0	.	15.6175	0.76778	0.1387:0.8613:0.0:0.0	.	100;181	B4DTE8;O15162	.;PLS1_HUMAN	Y	181;174;100;157;100;181	ENSP00000345494:C181Y;ENSP00000417792:C174Y;ENSP00000411675:C100Y;ENSP00000418103:C157Y;ENSP00000418550:C100Y;ENSP00000420523:C181Y	ENSP00000345494:C181Y	C	-	2	0	PLSCR1	147722344	1.000000	0.71417	0.028000	0.17463	0.011000	0.07611	7.445000	0.80570	1.285000	0.44548	0.655000	0.94253	TGT		0.438	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		T	146239654	C	T	146239654	3	4	146	1	0	0	0	0	1	0	0	0	12109	478	17	3	430	3	PLSCR1	3	146239654	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	16051691	146239654	51782776	17	9980											
SI	6476	broad.mit.edu	37	chr3	164700076	164700076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcgaatttttatttccGttatacgttagagtaactgc	11	15	9	6	3	0	1	0	0	0	1	1	3	1	2	1	1	4	3	1	1	7	8			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:164700076G>A	ENST00000264382.3	-	47	5432	c.5370C>T	c.(5368-5370)aaC>aaT	p.N1790N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1790	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.N1790N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTTTATTTCCGTTATACGTTA	0.348										HNSCC(35;0.089)																												uc003fei.3																			1	Substitution - coding silent(1)	p.N1790N(2)	endometrium(1)	NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5368-5370)aaC>aaT		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)						119	114	116					3																	164700076		2202	4299	6501	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700076G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5370C>T	3.37:g.164700076G>A		HNSCC(35;0.089)					p.N1790N	NM_001041	NP_001032	P14410	SUIS_HUMAN			46	5433	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1790			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.5370C>T	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164700076	G	A	164700076	2	1	146	1	0	0	0	0	0	0	0	1	14297	1136	40	1		1	SI	3	164700076	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	18460422	164700076	33322354	18	9981											
PIK3CA	5290	broad.mit.edu	37	chr3	178916851	178916853	+	In_Frame_Del	DEL	GAA	GAA	-																															ttactcaagaagcagaaaggGaagaattttttgatgaaaca																										TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:178916851_178916853delGAA	ENST00000263967.3	+	2	395_397	c.238_240delGAA	c.(238-240)gaadel	p.E81del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E80K(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCAGAAAGGGAAGAATTTTTTG	0.365		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1	Substitution - Missense(1)	p.E81K(10)|p.E80K(2)	breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(238-240)gaadel		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916851_178916853delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.238_240delGAA	3.37:g.178916854_178916856delGAA	ENSP00000263967:p.Glu81del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E81del	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	395_397	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		81			PI3K-ABD.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.238_240delGAA	CCDS43171.1																																																																																				0.365	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			-	178916853	GAA	-	178916851	7	5	146	1	0	1	0	1	0	0	0	0	11913	1175	41	0	240	0	PIK3CA	3	178916851	In_Frame_Del	DEL	GAA	TCGA-15-0742-01A-01W-0348-08	14216775	178916851	19105579	19	9982											
TMEM207	131920	broad.mit.edu	37	chr3	190147491	190147491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtttgaaggtgaattcCaacagttggactcacagctg	11	12	11	7	0	1	3	1	3	0	0	2	4	2	4	1	2	2	3	1	2	3	4	rs369868488		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:190147491C>G	ENST00000354905.2	-	5	400	c.334G>C	c.(334-336)Gga>Cga	p.G112R		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	112						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGAATTCCAACAGTTGGA	0.428																																						uc003fsj.2																			0				endometrium(1)|large_intestine(2)|lung(4)	7						c.(334-336)Gga>Cga		Homo sapiens transmembrane protein 207 (TMEM207), mRNA.							141	133	135					3																	190147491		2203	4300	6503	SO:0001583	missense	131920					integral to membrane		g.chr3:190147491C>G	BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.334G>C	3.37:g.190147491C>G	ENSP00000346981:p.Gly112Arg						p.G112R	NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)	4	401	-	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		112						Missense_Mutation	SNP	ENST00000354905.2	37	c.334G>C	CCDS3297.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.083120	0.20309	.	.	ENSG00000198398	ENST00000354905	T	0.42900	0.96	5.1	2.25	0.28309	.	0.335475	0.21546	N	0.072803	T	0.33962	0.0881	L	0.47716	1.5	0.28441	N	0.916827	P	0.49253	0.921	P	0.45138	0.471	T	0.24905	-1.0147	10	0.54805	T	0.06	-1.7175	3.7172	0.08442	0.1968:0.6056:0.0:0.1976	.	112	Q6UWW9	TM207_HUMAN	R	112	ENSP00000346981:G112R	ENSP00000346981:G112R	G	-	1	0	TMEM207	191630185	0.841000	0.29509	0.991000	0.47740	0.498000	0.33706	0.703000	0.25646	0.781000	0.33589	0.655000	0.94253	GGA		0.428	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343515.1	NM_207316		G	190147491	C	G	190147491	3	3	146	1	0	0	0	0	1	0	0	0	16129	603	21	5	110	5	TMEM207	3	190147491	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	11230640	190147491	7874939	20	9983											
CPEB2	132864	broad.mit.edu	37	chr4	15005738	15005739	+	In_Frame_Ins	INS	-	-	GCG																															tgggctcagcgttccgacgaINSgcggcggcggcggcggcggc																								rs376035407|rs534266090	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:15005738_15005739insGCG	ENST00000507071.1	+	1	217_218	c.130_131insGCG	c.(130-132)agc>aGCGgc	p.50_51insG	RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000538197.1_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000345451.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000382395.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000442003.2_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000541112.1_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000259997.5_In_Frame_Ins_p.50_51insG|RP11-665G4.1_ENST00000502344.1_RNA			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	50	Pro-rich.			G -> GG (in Ref. 2; AAI03942). {ECO:0000305}.	cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTTCCGACGAgcggcggcggc	0.728														247	0.0493211	0.0204	0.0159	5008	,	,		6128	0.0278		0.0348	False		,,,				2504	0.1493					uc003gnk.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(1441-1443)agc>aGCGgc		Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.																																				SO:0001652	inframe_insertion	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15005738_15005739insGCG	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.146_148dupGCG	4.37:g.15005745_15005747dupGCG	ENSP00000424084:p.Gly52_Gly53dup					BC113726_uc003gng.4_5'Flank|BC113726_uc003gnh.1_5'Flank|CPEB2_uc003gnl.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnm.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gni.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnn.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnj.2_In_Frame_Ins_p.487_488insG	p.487_488insG	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN			0	1441_1442	+			50			RRM 2.		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	In_Frame_Ins	INS	ENST00000507071.1	37	c.1441_1442insGCG																																																																																					0.728	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		GCG	15005739	-	GCG	15005738	7	5	146	1	0	1	1	0	0	0	0	0	3801	304	11	0	1443	0	CPEB2	4	15005738	In_Frame_Ins	INS	-	TCGA-15-0742-01A-01W-0348-08		15005738	176148538	21	9984											
CCDC158	339965	broad.mit.edu	37	chr4	77305567	77305567	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactgactctcccttcGtctatgaaataaatgaaaga	13	11	8	9	1	2	4	0	3	2	1	4	5	2	5	1	1	0	0	1	1	5	3	rs372875892		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:77305567G>A	ENST00000388914.3	-	5	552	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CCDC158_ENST00000434846.2_Splice_Site_p.R134*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	134										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCTCCCTTCGTCTATGAAAT	0.313																																						uc003hkb.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.e5-1		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.							56	50	52					4																	77305567		1823	4076	5899	SO:0001630	splice_region_variant	339965							g.chr4:77305567G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.399-1C>T	4.37:g.77305567G>A						CCDC158_uc003hkd.3_Splice_Site_p.R133_splice	p.R133_splice	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			5	552	-			133					Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.399_splice	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164570	0.78339	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	.	.	.	5.72	4.83	0.62350	.	0.000000	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7613	0.57365	0.0:0.0:0.836:0.164	.	.	.	.	X	134	.	ENSP00000316815:R134X	R	-	1	2	CCDC158	77524591	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.361000	0.59461	2.711000	0.92665	0.655000	0.94253	CGA		0.313	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Nonsense_Mutation	A	77305567	G	A	77305567	5	1	146	1	0	0	0	0	0	0	1	0	2790	1159	40	1	3021	1	CCDC158	4	77305567	Splice_Site	SNP	G	TCGA-15-0742-01A-01W-0348-08	62299829	77305567	113848709	22	9985											
HEATR7B2	133558	broad.mit.edu	37	chr5	41051102	41051102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcattccaatgaccagtgGgtccagggtttttaagacct	10	11	11	9	0	0	2	0	1	0	1	2	2	2	2	4	3	0	2	4	3	2	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:41051102G>T	ENST00000399564.4	-	13	1771	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	441																	ATGACCAGTGGGTCCAGGGTT	0.408																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1321-1323)Cca>Aca		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							86	87	87					5																	41051102		1861	4088	5949	SO:0001583	missense	133558						binding	g.chr5:41051102G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1321C>A	5.37:g.41051102G>T	ENSP00000382476:p.Pro441Thr					HEATR7B2_uc003jmi.4_5'UTR	p.P441T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1811	-			441					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1321C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757364	0.49468	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.04758	3.56	5.36	5.36	0.76844	Armadillo-type fold (1);	0.000000	0.49305	D	0.000142	T	0.10035	0.0246	L	0.28694	0.88	0.38008	D	0.934432	D	0.89917	1.0	D	0.87578	0.998	T	0.10064	-1.0646	10	0.02654	T	1	.	14.5976	0.68417	0.0:0.0:1.0:0.0	.	441	Q7Z745	HTRB2_HUMAN	T	145;441	ENSP00000382476:P441T	ENSP00000296803:P145T	P	-	1	0	HEATR7B2	41086859	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.191000	0.50981	2.512000	0.84698	0.655000	0.94253	CCA		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41051102	G	T	41051102	3	4	146	1	0	0	0	0	1	0	0	0	7035	1232	43	5	3556	5	HEATR7B2	5	41051102	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		41051102	139864158	23	9986											
SNX24	28966	broad.mit.edu	37	chr5	122281829	122281829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagtcttggaacagcgacGacaaggcttggaaacatact	15	7	10	9	2	1	0	0	0	1	0	1	4	1	2	0	3	4	1	0	3	5	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:122281829G>A	ENST00000261369.4	+	3	409	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	SNX24_ENST00000506996.1_Missense_Mutation_p.R75Q|SNX24_ENST00000395451.4_Missense_Mutation_p.R108Q|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Missense_Mutation_p.R75Q	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	75	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAACAGCGACGACAAGGCTTG	0.348																																						uc011cwo.2																			0				lung(5)	5						c.(223-225)cGa>cAa		Homo sapiens sorting nexin 24 (SNX24), mRNA.							52	55	54					5																	122281829		2203	4300	6503	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122281829G>A	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"Sorting nexins"	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.224G>A	5.37:g.122281829G>A	ENSP00000261369:p.Arg75Gln					SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.3_Missense_Mutation_p.R75Q	p.R75Q	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	2	393	+		Prostate(80;0.0387)	75			PX.		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.224G>A	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613477	0.96637	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.86	5.86	0.93980	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.963;0.99	T	0.62774	-0.6783	10	0.46703	T	0.11	0.0748	20.5632	0.99335	0.0:0.0:1.0:0.0	.	75;75	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	Q	75;75;108;75	ENSP00000261369:R75Q;ENSP00000424149:R75Q;ENSP00000378837:R108Q;ENSP00000422535:R75Q	ENSP00000261369:R75Q	R	+	2	0	SNX24	122309728	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.348000	0.97062	2.937000	0.99478	0.650000	0.86243	CGA		0.348	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		A	122281829	G	A	122281829	3	1	146	1	0	0	0	0	1	0	0	0	14895	1058	37	2	234	2	SNX24	5	122281829	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	81230727	122281829	58633431	24	9987											
SLC25A2	83884	broad.mit.edu	37	chr5	140682773	140682773	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaagccacaggcaaatTccagcaactccaccacttaa	16	5	5	15	1	0	0	0	0	0	0	2	1	2	0	4	1	3	2	4	1	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:140682773T>C	ENST00000239451.4	-	1	839	c.660A>G	c.(658-660)ggA>ggG	p.G220G		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	220					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACAGGCAAATTCCAGCAACTC	0.443																																						uc003ljf.3																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(658-660)ggA>ggG		Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	L-Ornithine(DB00129)						103	102	102					5																	140682773		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682773T>C	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.660A>G	5.37:g.140682773T>C							p.G220G	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	0	840	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	220					Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.660A>G	CCDS4258.1																																																																																				0.443	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		C	140682773	T	C	140682773	2	2	146	1	0	0	0	0	0	0	0	1	14482	1770	62	4		4	SLC25A2	5	140682773	Silent	SNP	T	TCGA-15-0742-01A-01W-0348-08	18400944	140682773	40232487	25	9988											
G3BP1	10146	broad.mit.edu	37	chr5	151170550	151170550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatggtgtggtagtccAggtgatggggcttctctcta	8	13	14	6	0	2	2	0	2	2	0	4	2	3	2	1	5	0	2	1	5	3	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:151170550A>G	ENST00000394123.3	+	4	423	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	G3BP1_ENST00000356245.3_Missense_Mutation_p.Q93R|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	93	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTGGTAGTCCAGGTGATGGGG	0.453																																						uc003lun.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(277-279)cAg>cGg		Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.							239	204	216					5																	151170550		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151170550A>G	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.278A>G	5.37:g.151170550A>G	ENSP00000377681:p.Gln93Arg					G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.3_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR	p.Q93R	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	449	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	93			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.278A>G	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.604307	0.87157	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000520006	T;T	0.75050	-0.9;-0.9	4.69	4.69	0.59074	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.92833	3.35	0.80722	D	1	D;P	0.76494	0.999;0.687	D;B	0.75484	0.986;0.408	D	0.91356	0.5108	10	0.66056	D	0.02	-16.4472	14.4488	0.67370	1.0:0.0:0.0:0.0	.	93;93	E5RJU8;Q13283	.;G3BP1_HUMAN	R	93;93;93;93;103;93	ENSP00000377681:Q93R;ENSP00000348578:Q93R	ENSP00000348578:Q93R	Q	+	2	0	G3BP1	151150743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.120000	0.94369	1.876000	0.54355	0.374000	0.22700	CAG		0.453	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		G	151170550	A	G	151170550	3	3	146	1	0	0	0	0	1	0	0	0	6141	188	7	4	288	4	G3BP1	5	151170550	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	10487777	151170550	29744710	26	9989											
MDC1	9656	broad.mit.edu	37	chr6	30671524	30671524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatggtagctaaagacctCttgcggctttgagaggcctt	8	12	11	10	1	1	2	0	1	1	2	2	3	2	2	3	3	2	3	3	3	3	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:30671524C>G	ENST00000376406.3	-	10	6083	c.5436G>C	c.(5434-5436)aaG>aaC	p.K1812N	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.K1548N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1812	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTAAAGACCTCTTGCGGCTTT	0.498								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5434-5436)aaG>aaC	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							133	131	132					6																	30671524		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671524C>G	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5436G>C	6.37:g.30671524C>G	ENSP00000365588:p.Lys1812Asn					MDC1_uc003nrf.4_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	p.K1812N	NM_014641	NP_055456	Q14676	MDC1_HUMAN			9	5876	-			1812			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5436G>C	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229304	0.58777	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05580	3.42;3.42	4.92	3.95	0.45737	.	0.000000	0.34879	N	0.003602	T	0.10078	0.0247	M	0.72894	2.215	0.26165	N	0.979949	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.961;0.987;0.998	T	0.10268	-1.0637	10	0.33940	T	0.23	-23.9515	9.0317	0.36262	0.0:0.8896:0.0:0.1104	.	1548;1812;789	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	N	1812;1548;1525;1378	ENSP00000365588:K1812N;ENSP00000365587:K1548N	ENSP00000365587:K1548N	K	-	3	2	MDC1	30779503	0.996000	0.38824	0.991000	0.47740	0.722000	0.41435	1.141000	0.31528	1.285000	0.44548	0.555000	0.69702	AAG		0.498	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		G	30671524	C	G	30671524	3	3	146	1	0	0	0	0	1	0	0	0	9403	912	32	5	857	5	MDC1	6	30671524	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		30671524	140443543	27	9990											
KIAA1586	57691	broad.mit.edu	37	chr6	56918065	56918065	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaatactgtttacagtttAgtaaaacataacagaccttt	15	15	4	7	0	1	1	1	0	0	1	1	1	1	1	1	0	4	3	1	0	7	9			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:56918065A>C	ENST00000370733.4	+	4	975	c.768A>C	c.(766-768)ttA>ttC	p.L256F	KIAA1586_ENST00000545356.1_Missense_Mutation_p.L229F	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	256							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTACAGTTTAGTAAAACATA	0.279																																						uc003pdj.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(766-768)ttA>ttC		Homo sapiens KIAA1586 (KIAA1586), mRNA.							26	28	28					6																	56918065		2180	4276	6456	SO:0001583	missense	57691						nucleic acid binding	g.chr6:56918065A>C	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.768A>C	6.37:g.56918065A>C	ENSP00000359768:p.Leu256Phe					KIAA1586_uc011dxm.2_Missense_Mutation_p.L229F	p.L256F	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	938	+	Lung NSC(77;0.0969)		256					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.768A>C	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	a	15.53	2.861456	0.51482	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.36157	1.27;1.27	4.25	4.25	0.50352	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.22017	N	0.999416	D;D	0.65815	0.995;0.995	D;D	0.63877	0.919;0.919	T	0.12116	-1.0560	9	0.56958	D	0.05	-1.6302	9.9365	0.41554	1.0:0.0:0.0:0.0	.	229;256	F5H2N6;Q9HCI6	.;K1586_HUMAN	F	256;229	ENSP00000359768:L256F;ENSP00000445507:L229F	ENSP00000359768:L256F	L	+	3	2	KIAA1586	57026024	0.997000	0.39634	0.715000	0.30552	0.988000	0.76386	1.004000	0.29822	1.911000	0.55334	0.383000	0.25322	TTA		0.279	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		C	56918065	A	C	56918065	3	2	146	1	0	0	0	0	1	0	0	0	8245	417	15	5	782	5	KIAA1586	6	56918065	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	26246541	56918065	114197002	28	9991											
KCNQ5	56479	broad.mit.edu	37	chr6	73904449	73904449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccagactttctacgCgcttagccctactatgcaca	9	10	7	15	2	1	1	0	0	1	1	1	1	1	1	2	0	5	2	2	0	4	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:73904449C>T	ENST00000370398.1	+	14	2220	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	KCNQ5_ENST00000403813.2_Missense_Mutation_p.A695V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A705V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A594V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A714V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A723V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A704V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	704					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACTTTCTACGCGCTTAGCCCT	0.488																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2167-2169)gCg>gTg		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							130	130	130					6																	73904449		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904449C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2111C>T	6.37:g.73904449C>T	ENSP00000359425:p.Ala704Val					KCNQ5_uc011dyi.2_Missense_Mutation_p.A714V|KCNQ5_uc010kat.3_Missense_Mutation_p.A695V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A704V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A454V	p.A723V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2515	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	704					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2168C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499373	0.64298	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99637	-5.89;-5.9;-5.9;-5.89;-5.91;-5.94;-6.29	5.32	5.32	0.75619	.	0.140270	0.48286	D	0.000184	D	0.99309	0.9758	L	0.56769	1.78	0.25729	N	0.985295	D;D;P;D;D	0.76494	0.999;0.973;0.627;0.994;0.99	D;B;B;P;P	0.64506	0.926;0.439;0.053;0.752;0.734	D	0.98218	1.0476	10	0.39692	T	0.17	.	18.9881	0.92780	0.0:1.0:0.0:0.0	.	594;714;723;695;704	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	723;723;704;704;714;705;695;594	ENSP00000345055:A723V;ENSP00000347326:A704V;ENSP00000359425:A704V;ENSP00000385501:A714V;ENSP00000347853:A705V;ENSP00000384453:A695V;ENSP00000409861:A594V	ENSP00000345055:A723V	A	+	2	0	KCNQ5	73961170	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	2.588000	0.46137	2.486000	0.83907	0.561000	0.74099	GCG		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73904449	C	T	73904449	3	4	146	1	0	0	0	0	1	0	0	0	8086	768	27	1	2226	1	KCNQ5	6	73904449	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	16986384	73904449	97210618	29	9992											
IMPG1	3617	broad.mit.edu	37	chr6	76751736	76751736	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccaaatcgaatattcGtctcatagttgacattttgt	10	17	6	8	2	1	1	1	1	1	0	4	2	1	1	1	0	1	1	1	0	4	7	rs200651043		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:76751736G>A	ENST00000369950.3	-	2	364	c.175C>T	c.(175-177)Cga>Tga	p.R59*	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAATATTCGTCTCATAGTT	0.363													G|||	1	0.000199681	0	0	5008	,	,		18149	0.001		0	False		,,,				2504	0				Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(175-177)Cga>Tga		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.							190	178	182					6																	76751736		2203	4300	6503	SO:0001587	stop_gained	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751736G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.175C>T	6.37:g.76751736G>A	ENSP00000358966:p.Arg59*						p.R59*	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			1	305	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	59						Nonsense_Mutation	SNP	ENST00000369950.3	37	c.175C>T	CCDS4985.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.3	4.398586	0.83120	.	.	ENSG00000112706	ENST00000369950	.	.	.	6.07	2.99	0.34606	.	0.327775	0.25130	N	0.032906	.	.	.	.	.	.	0.30378	N	0.782241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.045	0.71822	0.0:0.0:0.4597:0.5403	.	.	.	.	X	59	.	.	R	-	1	2	IMPG1	76808456	0.013000	0.17824	0.381000	0.26106	0.182000	0.23217	0.244000	0.18124	0.852000	0.35287	0.655000	0.94253	CGA		0.363	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76751736	G	A	76751736	4	1	146	1	0	0	0	0	0	1	0	0	7728	1153	40	1	2282	1	IMPG1	6	76751736	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	2847287	76751736	94363331	30	9993											
NOX3	50508	broad.mit.edu	37	chr6	155776184	155776184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacccaaaataactcgtGtgtaatggaaagactcctcc	14	10	6	11	1	0	1	0	0	0	1	3	2	2	2	3	1	2	1	3	1	6	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:155776184G>A	ENST00000159060.2	-	2	230	c.128C>T	c.(127-129)aCa>aTa	p.T43I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	43					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATAACTCGTGTGTAATGGAA	0.343																																						uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(127-129)aCa>aTa		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.							69	66	67					6																	155776184		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155776184G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.128C>T	6.37:g.155776184G>A	ENSP00000159060:p.Thr43Ile						p.T43I	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	1	231	-		Breast(66;0.0183)	43					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.128C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283104	0.59867	.	.	ENSG00000074771	ENST00000159060	D	0.95447	-3.71	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000003	D	0.94470	0.8220	L	0.56769	1.78	0.43907	D	0.996543	D	0.57899	0.981	P	0.52109	0.69	D	0.92168	0.5741	10	0.13853	T	0.58	-22.3496	20.0044	0.97430	0.0:0.0:1.0:0.0	.	43	Q9HBY0	NOX3_HUMAN	I	43	ENSP00000159060:T43I	ENSP00000159060:T43I	T	-	2	0	NOX3	155817876	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.722000	0.74735	2.804000	0.96469	0.650000	0.86243	ACA		0.343	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			A	155776184	G	A	155776184	3	1	146	1	0	0	0	0	1	0	0	0	10557	1377	48	3	1626	3	NOX3	6	155776184	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	79024448	155776184	15338883	31	9994											
EGFR	1956	broad.mit.edu	37	chr7	55238894	55238894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaggtcttgaaggctGtccaacgaatgggtaagtgt	9	10	15	7	1	1	1	0	1	1	0	2	2	2	1	2	4	1	2	2	4	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:55238894G>A	ENST00000275493.2	+	16	2084	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	EGFR_ENST00000454757.2_Missense_Mutation_p.C583Y|EGFR_ENST00000442591.1_Missense_Mutation_p.C636Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C591Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	636					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.C636Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTTGAAGGCTGTCCAACGAAT	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.C636Y(2)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1906-1908)tGt>tAt		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						144	126	132					7																	55238894		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55238894G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1907G>A	7.37:g.55238894G>A	ENSP00000275493:p.Cys636Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.C636Y|EGFR_uc010kzg.2_Missense_Mutation_p.C591Y|EGFR_uc022adn.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.2_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	p.C636Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2153	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		636					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1907G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031495	0.54790	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.54	5.54	0.83059	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.90248	0.4291	10	0.87932	D	0	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	591;636	Q504U8;P00533	.;EGFR_HUMAN	Y	591;506;636;636;583;430	ENSP00000415559:C591Y;ENSP00000275493:C636Y;ENSP00000410031:C636Y;ENSP00000395243:C583Y	ENSP00000275493:C636Y	C	+	2	0	EGFR	55206388	1.000000	0.71417	0.979000	0.43373	0.139000	0.21198	7.314000	0.78988	2.768000	0.95171	0.561000	0.74099	TGT		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55238894	G	A	55238894	3	1	146	1	0	0	0	0	1	0	0	0	4967	1377	48	3	2233	3	EGFR	7	55238894	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		55238894	103899769	32	9995											
CCL24	6369	broad.mit.edu	37	chr7	75442963	75442963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcggaggtcttacccGtagggatgatgtggtgggca	6	11	16	8	2	1	1	0	1	1	0	3	3	2	3	2	5	1	2	2	5	2	2	rs200038952		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:75442963G>A	ENST00000416943.1	-	2	164	c.71C>T	c.(70-72)aCg>aTg	p.T24M	CCL24_ENST00000222902.2_Missense_Mutation_p.T24M	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	24					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GGTCTTACCCGTAGGGATGAT	0.612																																						uc011kga.2																			0				endometrium(1)|lung(2)	3						c.(70-72)aCg>aTg		Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.							140	116	124					7																	75442963		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75442963G>A	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.71C>T	7.37:g.75442963G>A	ENSP00000400533:p.Thr24Met						p.T24M	NM_002991	NP_002982	O00175	CCL24_HUMAN			0	130	-			24					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.71C>T	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	.	12.21	1.869083	0.32977	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.02682	4.2;4.2	3.39	2.48	0.30137	Chemokine interleukin-8-like domain (1);	0.721746	0.11917	N	0.517039	T	0.02649	0.0080	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	P	0.44597	0.454	T	0.49899	-0.8890	10	0.62326	D	0.03	.	7.1138	0.25405	0.1276:0.0:0.8724:0.0	.	24	O00175	CCL24_HUMAN	M	24	ENSP00000222902:T24M;ENSP00000400533:T24M	ENSP00000222902:T24M	T	-	2	0	CCL24	75280899	0.850000	0.29656	0.092000	0.20876	0.002000	0.02628	1.863000	0.39459	0.963000	0.38082	0.655000	0.94253	ACG		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		A	75442963	G	A	75442963	3	1	146	1	0	0	0	0	1	0	0	0	2896	1145	40	1	298	1	CCL24	7	75442963	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	20204069	75442963	83695700	33	9996											
HGF	3082	broad.mit.edu	37	chr7	81331979	81331979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggacaaaaataccaggaCgatttggaatggcacatcca	15	7	9	10	2	0	0	0	0	0	0	2	4	1	3	2	4	1	1	2	4	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:81331979C>T	ENST00000222390.5	-	18	2331	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	HGF_ENST00000457544.2_Missense_Mutation_p.R697H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	702	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATACCAGGACGATTTGGAAT	0.403																																						uc003uhl.3																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(2104-2106)cGt>cAt		Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.							133	125	128					7																	81331979		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81331979C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2105G>A	7.37:g.81331979C>T	ENSP00000222390:p.Arg702His					HGF_uc003uhm.3_Missense_Mutation_p.R697H	p.R702H	NM_000601	NP_000592	P14210	HGF_HUMAN			17	2270	-			702			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.2105G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912649	0.72983	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.89617	-2.54;-2.54	5.3	5.3	0.74995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.100995	0.64402	D	0.000001	D	0.91851	0.7421	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.92467	0.5982	10	0.62326	D	0.03	.	19.3172	0.94220	0.0:1.0:0.0:0.0	.	697;702	P14210-3;P14210	.;HGF_HUMAN	H	702;697	ENSP00000222390:R702H;ENSP00000391238:R697H	ENSP00000222390:R702H	R	-	2	0	HGF	81169915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.674000	0.61612	2.643000	0.89663	0.655000	0.94253	CGT		0.403	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		T	81331979	C	T	81331979	3	4	146	1	0	0	0	0	1	0	0	0	7085	536	19	1	85	1	HGF	7	81331979	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	5889016	81331979	77806684	34	9997											
ZNF804B	219578	broad.mit.edu	37	chr7	88963595	88963595	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtaaaagaagcatgtacCcataatgtggcatctaaacc	15	10	7	9	0	1	1	0	0	1	1	1	1	1	1	2	1	3	4	2	1	7	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:88963595C>A	ENST00000333190.4	+	4	1908	c.1299C>A	c.(1297-1299)acC>acA	p.T433T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	433							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)																												uc011khi.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1297-1299)acC>acA		Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.							65	66	65					7																	88963595		2201	4298	6499	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963595C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1299C>A	7.37:g.88963595C>A		HNSCC(36;0.09)					p.T433T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	1837	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		433					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1299C>A	CCDS5613.1																																																																																				0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88963595	C	A	88963595	2	1	146	1	0	0	0	0	0	0	0	1	18168	610	22	5		5	ZNF804B	7	88963595	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	7631616	88963595	70175068	35	9998											
COL1A2	1278	broad.mit.edu	37	chr7	94055328	94055328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtccttctggtcctgttGgtcctgctggtgctgttggc	1	15	15	10	0	1	0	0	0	1	0	4	0	4	0	3	5	2	4	3	5	0	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:94055328G>C	ENST00000297268.6	+	45	3433	c.2962G>C	c.(2962-2964)Ggt>Cgt	p.G988R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	988					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCTGTTGGTCCTGCTGG	0.478										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2962-2964)Ggt>Cgt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						168	157	161					7																	94055328		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94055328G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2962G>C	7.37:g.94055328G>C	ENSP00000297268:p.Gly988Arg	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G988R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		44	3433	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		988					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2962G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514600	0.64522	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.98807	-5.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97940	1.0325	10	0.87932	D	0	.	17.53	0.87811	0.0:0.0:1.0:0.0	.	988	P08123	CO1A2_HUMAN	R	988;989	ENSP00000297268:G988R	ENSP00000297268:G988R	G	+	1	0	COL1A2	93893264	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	8.890000	0.92477	2.894000	0.99253	0.655000	0.94253	GGT		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		C	94055328	G	C	94055328	3	2	146	1	0	0	0	0	1	0	0	0	3678	1348	47	5	3140	5	COL1A2	7	94055328	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	5091733	94055328	65083335	36	9999											
SLC26A3	1811	broad.mit.edu	37	chr7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattttaccttgtagtaCggccacaatccctgtgctga	12	12	7	10	1	0	1	0	1	0	0	1	1	1	1	3	1	3	3	3	1	6	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:107434196C>T	ENST00000340010.5	-	3	446	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V53I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	88					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(262-264)Gta>Ata		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							49	45	47					7																	107434196		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107434196C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.262G>A	7.37:g.107434196C>T	ENSP00000345873:p.Val88Ile					SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	p.V88I	NM_000111	NP_000102	P40879	S26A3_HUMAN			2	473	-			88						Missense_Mutation	SNP	ENST00000340010.5	37	c.262G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581046	0.65992	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.90133	-2.62;-2.62;-2.62	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	N	0.20483	0.58	0.54753	D	0.999989	D;P	0.53462	0.96;0.857	B;B	0.42653	0.369;0.394	T	0.82165	-0.0592	10	0.09338	T	0.73	.	19.679	0.95950	0.0:1.0:0.0:0.0	.	53;88	G5E9U3;P40879	.;S26A3_HUMAN	I	53;88;88	ENSP00000415817:V53I;ENSP00000345873:V88I;ENSP00000395955:V88I	ENSP00000345873:V88I	V	-	1	0	SLC26A3	107221432	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.515000	0.53429	2.658000	0.90341	0.491000	0.48974	GTA		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		T	107434196	C	T	107434196	3	4	146	1	0	0	0	0	1	0	0	0	14518	536	19	1	2108	1	SLC26A3	7	107434196	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	13378868	107434196	51704467	37	10000											
SPAM1	6677	broad.mit.edu	37	chr7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccctcagtataatgcGaagtatggtaagttgaattg	13	11	12	5	1	1	1	1	1	0	0	1	3	1	2	1	2	2	4	1	2	7	6	rs267601263	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0	0	5008	,	,		17337	0		0	False		,,,				2504	0.0031					uc003vle.3																			2	Substitution - Missense(2)	p.R346Q(3)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1036-1038)cGa>cAa		Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						180	178	179					7																	123595133		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595133G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln					SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN			3	1476	+			346					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1037G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123595133	G	A	123595133	3	1	146	1	0	0	0	0	1	0	0	0	14986	1058	37	2	1043	2	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	16160937	123595133	35543530	38	10001											
SVOPL	136306	broad.mit.edu	37	chr7	138310791	138310791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagccaatcaggcCggcactagaaaacaggaagc	17	2	13	9	1	1	2	1	0	0	2	1	5	1	4	2	4	3	1	2	4	7	1	rs144549446	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:138310791C>T	ENST00000419765.3	-	12	1219	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	SVOPL_ENST00000288513.5_Missense_Mutation_p.G244S|SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000421622.1_Missense_Mutation_p.G276S|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000436657.1_Missense_Mutation_p.G244S	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	396						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCAATCAGGCCGGCACTAGAA	0.507													C|||	4	0.000798722	0.003	0	5008	,	,		19226	0		0	False		,,,				2504	0					uc011kqh.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(1186-1188)Ggc>Agc		Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	56	56	56		1186,730	5.3	0.8	7	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SVOPL	NM_001139456.1,NM_174959.2	56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	396/493,244/341	138310791	2,13004	2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138310791C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1186G>A	7.37:g.138310791C>T	ENSP00000405482:p.Gly396Ser					SVOPL_uc003vue.3_Missense_Mutation_p.G244S	p.G396S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			11	1186	-			396						Missense_Mutation	SNP	ENST00000419765.3	37	c.1186G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639632	0.47153	2.27E-4	1.16E-4	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.986;1.0	T	0.75961	-0.3133	10	0.20519	T	0.43	-19.879	19.0878	0.93212	0.0:1.0:0.0:0.0	.	396;244	Q8N434;Q8N434-2	SVOPL_HUMAN;.	S	244;276;244;396	ENSP00000288513:G244S;ENSP00000412830:G276S;ENSP00000417018:G244S;ENSP00000405482:G396S	ENSP00000288513:G244S	G	-	1	0	SVOPL	137961331	1.000000	0.71417	0.770000	0.31555	0.249000	0.25844	5.747000	0.68689	2.493000	0.84123	0.655000	0.94253	GGC		0.507	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		T	138310791	C	T	138310791	3	4	146	1	0	0	0	0	1	0	0	0	15421	652	23	2	308	2	SVOPL	7	138310791	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	14715658	138310791	20827872	39	10002											
RIMS2	9699	broad.mit.edu	37	chr8	105001550	105001550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtcggaatgtggaacaggGgcttcgagggacccgcacta	10	7	15	9	3	0	0	0	0	0	0	2	4	0	3	1	5	1	2	1	5	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:105001550G>A	ENST00000436393.2	+	15	2520	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	RIMS2_ENST00000262231.10_Missense_Mutation_p.G821E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G982E|RIMS2_ENST00000507740.1_Missense_Mutation_p.G774E			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1044					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGAACAGGGGCTTCGAGGG	0.398										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2278-2280)gGg>gAg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							134	132	132					8																	105001550		1873	4099	5972	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001550G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2279G>A	8.37:g.105001550G>A	ENSP00000390665:p.Gly760Glu	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.G982E|RIMS2_uc003ylw.2_Missense_Mutation_p.G774E|RIMS2_uc003ylq.3_Missense_Mutation_p.G774E|RIMS2_uc003ylr.3_Missense_Mutation_p.G821E	p.G760E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2520	+			1044					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2279G>A		.	.	.	.	.	.	.	.	.	.	G	13.30	2.195384	0.38806	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.16196	2.36;2.83;2.5;2.54;2.46;2.86	5.54	5.54	0.83059	.	.	.	.	.	T	0.29256	0.0728	L	0.29908	0.895	0.80722	D	1	D;B;D;P;P	0.89917	0.991;0.038;1.0;0.646;0.921	P;B;D;B;P	0.79108	0.824;0.018;0.992;0.23;0.696	T	0.02661	-1.1127	9	0.11182	T	0.66	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1044;760;821;774;982	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	E	982;997;982;1044;821;774;774;760	ENSP00000427018:G982E;ENSP00000384892:G982E;ENSP00000262231:G821E;ENSP00000423559:G774E;ENSP00000386228:G774E;ENSP00000390665:G760E	ENSP00000262231:G821E	G	+	2	0	RIMS2	105070726	1.000000	0.71417	0.989000	0.46669	0.363000	0.29612	6.280000	0.72626	2.617000	0.88574	0.484000	0.47621	GGG		0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105001550	G	A	105001550	3	1	146	1	0	0	0	0	1	0	0	0	13368	1232	43	3	3137	3	RIMS2	8	105001550	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		105001550	41362472	40	10003											
CSMD3	114788	broad.mit.edu	37	chr8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaccatcacttaccttCgtaatataccttaaatccat	13	13	1	14	1	1	0	1	0	0	0	3	0	2	0	5	0	3	1	5	0	7	7	rs536561292		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0	0	5008	,	,		15815	0.001		0	False		,,,				2504	0					uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(511-513)Gaa>Aaa		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							112	94	100					8																	114290824		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114290824C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.511G>A	8.37:g.114290824C>T	ENSP00000297405:p.Glu171Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	670	-			171			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.511G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213211	0.09757	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	CUB (4);	0.000000	0.64402	D	0.000007	T	0.46171	0.1379	L	0.41824	1.3	0.40766	D	0.983044	D;D;D;D	0.76494	0.995;0.999;0.997;0.971	D;D;D;P	0.74023	0.956;0.982;0.967;0.508	T	0.31779	-0.9931	10	0.38643	T	0.18	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	171;171;171;131	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	K	131;171;171;171	ENSP00000345799:E131K;ENSP00000297405:E171K;ENSP00000412263:E171K;ENSP00000343124:E171K	ENSP00000297405:E171K	E	-	1	0	CSMD3	114360000	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.493000	0.66899	2.480000	0.83734	0.543000	0.68304	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114290824	C	T	114290824	3	4	146	1	0	0	0	0	1	0	0	0	3946	893	31	2	10888	2	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	9289274	114290824	32073198	41	10004											
IFNA21	3452	broad.mit.edu	37	chr9	21166247	21166247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacctcctgtatcacgCaggcttccaggtcattcagc	8	9	7	17	1	3	0	3	0	0	0	5	0	5	0	5	2	2	3	5	2	2	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:21166247C>G	ENST00000380225.1	-	1	412	c.365G>C	c.(364-366)tGc>tCc	p.C122S		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	122					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGTATCACGCAGGCTTCCAG	0.463																																						uc003zom.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(364-366)tGc>tCc		Homo sapiens interferon, alpha 21 (IFNA21), mRNA.							168	174	172					9																	21166247		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166247C>G		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.365G>C	9.37:g.21166247C>G	ENSP00000369574:p.Cys122Ser						p.C122S	NM_002175	NP_002166	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	0	413	-			122					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.365G>C	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	15.64	2.893341	0.52121	.	.	ENSG00000137080	ENST00000380225	T	0.08807	3.05	4.02	4.02	0.46733	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.130766	0.56097	D	0.000025	T	0.36303	0.0962	M	0.92833	3.35	0.09310	N	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.32851	-0.9891	10	0.87932	D	0	.	13.2705	0.60157	0.0:1.0:0.0:0.0	.	122	P01568	IFN21_HUMAN	S	122	ENSP00000369574:C122S	ENSP00000369574:C122S	C	-	2	0	IFNA21	21156247	0.921000	0.31238	0.088000	0.20740	0.054000	0.15201	4.132000	0.57977	2.080000	0.62538	0.644000	0.83932	TGC		0.463	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		G	21166247	C	G	21166247	3	3	146	1	0	0	0	0	1	0	0	0	7538	710	25	5	208	5	IFNA21	9	21166247	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		21166247	120047184	42	10005											
S1PR3	1903	broad.mit.edu	37	chr9	91616623	91616623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccttcacgctgggcGccctgcccattctgggctgg	3	11	12	15	2	3	0	2	0	1	0	3	0	3	0	3	3	2	2	3	3	0	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:91616623G>A	ENST00000375846.3	+	1	5203	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	S1PR3_ENST00000358157.2_Missense_Mutation_p.A170T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	170					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CACGCTGGGCGCCCTGCCCAT	0.557											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc022bjm.1																			0		p.A170A(1)|p.G169G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						c.(508-510)Gcc>Acc		Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.							164	117	133					9																	91616623		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616623G>A	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.508G>A	9.37:g.91616623G>A	ENSP00000365006:p.Ala170Thr		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	S1PR3_uc004aqe.3_Missense_Mutation_p.A170T	p.A170T	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			0	508	+			170					Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.508G>A	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432911	0.43224	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.72394	-0.65;-0.65	5.41	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.061266	0.64402	D	0.000004	T	0.76905	0.4053	L	0.43152	1.355	0.48341	D	0.999637	D	0.76494	0.999	D	0.65010	0.931	T	0.77485	-0.2570	10	0.52906	T	0.07	.	14.6698	0.68934	0.0:0.0:0.735:0.265	.	170	Q99500	S1PR3_HUMAN	T	170	ENSP00000350878:A170T;ENSP00000365006:A170T	ENSP00000350878:A170T	A	+	1	0	S1PR3	90806443	0.997000	0.39634	0.870000	0.34147	0.584000	0.36387	3.021000	0.49651	0.814000	0.34374	-0.268000	0.10319	GCC		0.557	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		A	91616623	G	A	91616623	3	1	146	1	0	0	0	0	1	0	0	0	13795	1087	38	1	510	1	S1PR3	9	91616623	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	70450376	91616623	49596808	43	10006											
SURF4	6836	broad.mit.edu	37	chr9	136230519	136230519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggaatggtccagaaggcGttgaaatatacgttgatggc	12	10	13	6	2	0	3	0	2	0	1	1	4	1	4	1	4	1	2	1	4	5	4	rs376860027		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:136230519G>A	ENST00000371989.3	-	6	789	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	220					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TCCAGAAGGCGTTGAAATATA	0.488																																						uc004cdj.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(658-660)aaC>aaT		Homo sapiens surfeit 4 (SURF4), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	105	95	98		660	2.4	1	9		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SURF4	NM_033161.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		220/270	136230519	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230519G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.660C>T	9.37:g.136230519G>A						SURF4_uc011mda.2_Silent_p.N211N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N177N|SURF4_uc011mdc.2_Silent_p.N177N	p.N220N	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	790	-			220					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.660C>T	CCDS6968.1																																																																																				0.488	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		A	136230519	G	A	136230519	2	1	146	1	0	0	0	0	0	0	0	1	15402	1136	40	1		1	SURF4	9	136230519	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	44613896	136230519	4982912	44	10007											
LCN1	3933	broad.mit.edu	37	chr9	138415760	138415760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcatacatcatcaggtcGcacgtgaaggaccactacat	12	8	10	11	2	2	1	2	1	0	0	3	2	2	2	1	3	2	2	1	3	3	2	rs373587388	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:138415760G>A	ENST00000263598.2	+	4	387	c.327G>A	c.(325-327)tcG>tcA	p.S109S	LCN1_ENST00000371781.3_Silent_p.S109S	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	109					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCATCAGGTCGCACGTGAAGG	0.602													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		17671	0		0	False		,,,				2504	0					uc022bpk.1																			1	Substitution - coding silent(1)	p.S109S(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(325-327)tcG>tcA		Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.		G		0,4406		0,0,2203	109	88	95		327	-6.2	0	9		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LCN1	NM_002297.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		109/177	138415760	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415760G>A		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.327G>A	9.37:g.138415760G>A						LCN1_uc022bpj.1_Silent_p.S109S|LCN1_uc004cfz.2_Silent_p.S109S|LCN1_uc004cga.2_Silent_p.S109S	p.S109S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	3	387	+		Myeloproliferative disorder(178;0.0511)	109					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.327G>A	CCDS6991.1																																																																																				0.602	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		A	138415760	G	A	138415760	2	1	146	1	0	0	0	0	0	0	0	1	8680	1074	38	1		1	LCN1	9	138415760	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	2185241	138415760	2797671	45	10008											
PTCHD3	374308	broad.mit.edu	37	chr10	27688091	27688091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaatagacattggacAtccgctctcgtatgtcatct	9	15	7	10	2	3	2	1	1	2	1	5	3	4	3	1	1	0	2	1	1	3	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:27688091A>T	ENST00000438700.3	-	4	1553	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	479	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACATTGGACATCCGCTCTCG	0.403																																						uc001itu.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1435-1437)aTg>aAg		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							84	72	76					10																	27688091		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688091A>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1436T>A	10.37:g.27688091A>T	ENSP00000417658:p.Met479Lys						p.M479K	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			3	1554	-			479			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1436T>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055181	0.36277	.	.	ENSG00000182077	ENST00000438700	D	0.87650	-2.28	3.84	3.84	0.44239	Sterol-sensing domain (1);	0.518245	0.21170	N	0.079000	D	0.91385	0.7282	M	0.66297	2.02	0.38053	D	0.93583	D	0.64830	0.994	D	0.66351	0.943	D	0.92930	0.6363	10	0.87932	D	0	-5.434	12.4455	0.55649	1.0:0.0:0.0:0.0	.	479	Q3KNS1	PTHD3_HUMAN	K	479	ENSP00000417658:M479K	ENSP00000417658:M479K	M	-	2	0	PTCHD3	27728097	1.000000	0.71417	0.003000	0.11579	0.148000	0.21650	7.228000	0.78079	1.598000	0.50083	0.397000	0.26171	ATG		0.403	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27688091	A	T	27688091	3	4	146	1	0	0	0	0	1	0	0	0	12734	217	8	5	871	5	PTCHD3	10	27688091	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08		27688091	107846656	46	10009											
TRIM3	10612	broad.mit.edu	37	chr11	6470405	6470405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggaaggagccagagctgtcGaatacctggggaaggagtgc	12	5	17	7	1	0	1	0	0	0	1	1	6	0	5	2	5	4	1	2	5	4	1	rs370951694		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:6470405G>C	ENST00000525074.1	-	12	2482	c.2088C>G	c.(2086-2088)ttC>ttG	p.F696L	TRIM3_ENST00000536344.1_Missense_Mutation_p.F577L|TRIM3_ENST00000359518.3_Missense_Mutation_p.F696L|TRIM3_ENST00000537602.1_Missense_Mutation_p.F618L|TRIM3_ENST00000345851.3_Missense_Mutation_p.F696L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	696					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F696L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCTGTCGAATACCTGGG	0.562																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.3																			1	Substitution - Missense(1)	p.F696L(2)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(2086-2088)ttC>ttG		Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.							91	79	83					11																	6470405		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470405G>C	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2088C>G	11.37:g.6470405G>C	ENSP00000433102:p.Phe696Leu					TRIM3_uc001mdi.3_Missense_Mutation_p.F696L|TRIM3_uc010raj.2_Missense_Mutation_p.F577L|TRIM3_uc009yfd.3_Missense_Mutation_p.F696L	p.F696L	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	12	2484	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	696					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.2088C>G	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585584	0.46110	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.8	1.21	0.21127	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.72118	2.19	0.48452	D	0.999655	B;B	0.31256	0.139;0.316	B;P	0.48454	0.177;0.578	T	0.75593	-0.3264	10	0.46703	T	0.11	-16.8289	6.992	0.24761	0.725:0.0:0.275:0.0	.	577;696	F5H2Q8;O75382	.;TRIM3_HUMAN	L	696;696;685;618;696;577	ENSP00000433102:F696L;ENSP00000340797:F696L;ENSP00000441091:F618L;ENSP00000352508:F696L;ENSP00000445460:F577L	ENSP00000337094:F685L	F	-	3	2	TRIM3	6426981	0.980000	0.34600	0.999000	0.59377	0.997000	0.91878	0.320000	0.19540	0.160000	0.19432	0.563000	0.77884	TTC		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		C	6470405	G	C	6470405	3	2	146	1	0	0	0	0	1	0	0	0	16501	1049	37	5	150	5	TRIM3	11	6470405	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		6470405	128536111	47	10010											
SYT9	143425	broad.mit.edu	37	chr11	7324279	7324279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgcagatatctcagTgagcctgctgacccttgtgg	6	14	10	11	0	2	3	1	2	2	1	3	3	2	3	2	1	3	2	2	1	1	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:7324279T>C	ENST00000318881.6	+	2	392	c.155T>C	c.(154-156)gTg>gCg	p.V52A	SYT9_ENST00000396716.2_Missense_Mutation_p.V20A	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	52					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATATCTCAGTGAGCCTGCTG	0.537																																						uc001mfe.3																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(154-156)gTg>gCg		Homo sapiens synaptotagmin IX (SYT9), mRNA.							162	146	152					11																	7324279		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324279T>C	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.155T>C	11.37:g.7324279T>C	ENSP00000324419:p.Val52Ala					SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	p.V52A	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	1	392	+			52						Missense_Mutation	SNP	ENST00000318881.6	37	c.155T>C	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559991	0.86335	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	.	0.102021	0.44483	D	0.000454	T	0.56819	0.2011	L	0.50333	1.59	0.54753	D	0.999983	P	0.51351	0.944	P	0.54431	0.752	T	0.59947	-0.7358	10	0.87932	D	0	.	14.3021	0.66359	0.0:0.0:0.0:1.0	.	52	Q86SS6	SYT9_HUMAN	A	20;52	ENSP00000379944:V20A;ENSP00000324419:V52A	ENSP00000324419:V52A	V	+	2	0	SYT9	7280855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.270000	0.75569	0.528000	0.53228	GTG		0.537	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		C	7324279	T	C	7324279	3	2	146	1	0	0	0	0	1	0	0	0	15478	1696	59	4	161	4	SYT9	11	7324279	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	853874	7324279	127682237	48	10011											
ANO1	55107	broad.mit.edu	37	chr11	69924755	69924755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgctcccggccgaggacCgcagcgtccacatcatcaac	9	4	10	18	6	2	0	2	0	0	0	4	3	4	1	4	2	2	2	4	2	1	0	rs199763025		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:69924755C>T	ENST00000355303.5	+	1	348	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.R15C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	15					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGCCGAGGACCGCAGCGTCCA	0.731													C|||	1	0.000199681	0	0	5008	,	,		5224	0		0.001	False		,,,				2504	0					uc001opj.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(43-45)Cgc>Tgc		Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.		C	CYS/ARG	0,4112		0,0,2056	20	24	23		43	2.2	1	11		23	2,8368		0,2,4183	yes	missense	ANO1	NM_018043.5	180	0,2,6239	TT,TC,CC		0.0239,0.0,0.016	possibly-damaging	15/987	69924755	2,12480	2056	4185	6241	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69924755C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.43C>T	11.37:g.69924755C>T	ENSP00000347454:p.Arg15Cys						p.R15C	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			0	348	+			15					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.43C>T	CCDS44663.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.30	3.355792	0.61293	0.0	2.39E-4	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000531604	T;T;T	0.66638	-0.12;-0.22;0.84	3.23	2.2	0.27929	.	0.444680	0.17019	U	0.190202	T	0.39332	0.1074	N	0.22421	0.69	0.80722	D	1	P	0.46277	0.875	B	0.31547	0.132	T	0.22452	-1.0216	9	.	.	.	.	5.0575	0.14540	0.2934:0.5813:0.0:0.1252	.	15	Q5XXA6	ANO1_HUMAN	C	15	ENSP00000347454:R15C;ENSP00000444689:R15C;ENSP00000436392:R15C	.	R	+	1	0	ANO1	69602403	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.556000	0.45862	1.518000	0.48934	0.306000	0.20318	CGC		0.731	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		T	69924755	C	T	69924755	3	4	146	1	0	0	0	0	1	0	0	0	695	652	23	2	45	2	ANO1	11	69924755	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	62600476	69924755	65081761	49	10012											
NOX4	50507	broad.mit.edu	37	chr11	89155085	89155085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccctgaaacatgcaacGtcagcagcatgtagaagaca	15	7	8	11	1	1	3	1	1	0	2	1	3	1	3	1	0	6	4	1	0	5	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:89155085G>A	ENST00000263317.4	-	8	852	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NOX4_ENST00000525196.1_Missense_Mutation_p.T205M|NOX4_ENST00000343727.5_Missense_Mutation_p.T181M|NOX4_ENST00000424319.1_Missense_Mutation_p.T181M|NOX4_ENST00000527956.1_Missense_Mutation_p.T181M|NOX4_ENST00000542487.1_Missense_Mutation_p.T181M|NOX4_ENST00000532825.1_Missense_Mutation_p.T181M|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.T205M|NOX4_ENST00000527626.1_Missense_Mutation_p.T39M|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000535633.1_Missense_Mutation_p.T181M|NOX4_ENST00000528341.1_Missense_Mutation_p.T180M|NOX4_ENST00000413594.2_Missense_Mutation_p.T226M			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	205	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACATGCAACGTCAGCAGCAT	0.333																																						uc001pct.3																			0		p.T205T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(613-615)aCg>aTg		Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.							103	100	101					11																	89155085		2201	4296	6497	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89155085G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.614C>T	11.37:g.89155085G>A	ENSP00000263317:p.Thr205Met					NOX4_uc009yvr.3_Missense_Mutation_p.T180M|NOX4_uc001pcu.3_Missense_Mutation_p.T131M|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.T205M|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.T39M|NOX4_uc009yvp.3_Missense_Mutation_p.T205M|NOX4_uc010rtv.2_Missense_Mutation_p.T181M|NOX4_uc009yvq.3_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_Non-coding_Transcript	p.T205M	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN			7	853	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	205			Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.614C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	9.064	0.995264	0.19043	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.53;-3.53;-3.53;-3.5;-3.56;-3.45;-3.59;-3.53;-3.53;-3.27;-3.5;-3.56	5.72	4.59	0.56863	.	0.525534	0.22592	N	0.058072	D	0.85561	0.5725	N	0.08118	0	0.22226	N	0.999279	B;B;B;B;B;B	0.10296	0.0;0.0;0.002;0.0;0.001;0.003	B;B;B;B;B;B	0.11329	0.001;0.0;0.006;0.0;0.001;0.0	T	0.71899	-0.4453	9	.	.	.	-2.2862	9.4479	0.38708	0.9183:0.0:0.0817:0.0	.	181;39;180;205;205;205	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	M	181;181;181;205;205;205;181;181;181;39;180;226	ENSP00000412446:T181M;ENSP00000440172:T181M;ENSP00000344747:T181M;ENSP00000436892:T205M;ENSP00000436716:T205M;ENSP00000263317:T205M;ENSP00000434924:T181M;ENSP00000433797:T181M;ENSP00000439373:T181M;ENSP00000436093:T39M;ENSP00000436970:T180M;ENSP00000405705:T226M	.	T	-	2	0	NOX4	88794733	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.939000	0.63526	1.005000	0.39183	-0.324000	0.08512	ACG		0.333	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		A	89155085	G	A	89155085	3	1	146	1	0	0	0	0	1	0	0	0	10558	1145	40	1	1166	1	NOX4	11	89155085	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	19230330	89155085	45851431	50	10013											
CARD16	114769	broad.mit.edu	37	chr11	104915384	104915384	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctccttcaggaccttGtctgtttggagcacaaggat	7	14	9	11	0	4	0	1	0	3	0	5	3	4	3	2	3	1	2	2	3	1	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:104915384G>T	ENST00000375706.2	-	2	26	c.9C>A	c.(7-9)gaC>gaA	p.D3E	CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Splice_Site_p.D3E|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Splice_Site_p.D3E|CASP1_ENST00000594519.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	3	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TCAGGACCTTGTCTGTTTGGA	0.408																																						uc001pip.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.e2-1		Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	Minocycline(DB01017)|Penicillamine(DB00859)						232	216	221					11																	104915384		2202	4299	6501	SO:0001630	splice_region_variant	114769				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104915384G>T		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.8-1C>A	11.37:g.104915384G>T						CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Splice_Site_p.D3_splice	p.D3_splice	NM_001017534	NP_001017534	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	2	35	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	3			CARD.		Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.8_splice	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.551383	0.45383	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374	T;T;T	0.14640	2.49;2.49;2.49	3.13	1.11	0.20524	DEATH-like (2);Caspase Recruitment (2);	0.338358	0.23532	U	0.047175	T	0.33000	0.0848	M	0.85710	2.77	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.74348	0.983;0.904	T	0.04509	-1.0946	10	0.87932	D	0	.	5.1216	0.14863	0.2959:0.0:0.7041:0.0	.	3;3	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	E	3	ENSP00000364858:D3E;ENSP00000364856:D3E;ENSP00000433700:D3E	ENSP00000364856:D3E	D	-	3	2	CARD16	104420594	0.962000	0.33011	0.158000	0.22627	0.155000	0.21991	1.084000	0.30828	0.610000	0.30035	0.484000	0.47621	GAC		0.408	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1		Missense_Mutation	T	104915384	G	T	104915384	5	4	146	1	0	0	0	0	0	0	1	0	2647	1391	48	5	616	5	CARD16	11	104915384	Splice_Site	SNP	G	TCGA-15-0742-01A-01W-0348-08	15760299	104915384	30091132	51	10014											
OLR1	4973	broad.mit.edu	37	chr12	10319338	10319338	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgctactctcttcagtgTttcttggagattcagattct	7	19	7	8	0	5	2	2	0	3	2	6	3	5	2	0	1	2	2	0	1	1	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:10319338T>A	ENST00000309539.3	-	3	457	c.397A>T	c.(397-399)Aca>Tca	p.T133S	OLR1_ENST00000432556.2_Missense_Mutation_p.T133S|OLR1_ENST00000545927.1_Missense_Mutation_p.T133S|OLR1_ENST00000544577.1_Missense_Mutation_p.T133S|OLR1_ENST00000543993.1_Missense_Mutation_p.T29S	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	133	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCTTCAGTGTTTCTTGGAGA	0.403																																						uc001qxo.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(397-399)Aca>Tca		Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.							168	159	162					12																	10319338		2203	4300	6503	SO:0001583	missense	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10319338T>A	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"C-type lectin domain containing"	8133	protein-coding gene	gene with protein product		602601	"oxidised low density lipoprotein (lectin-like) receptor 1"			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.397A>T	12.37:g.10319338T>A	ENSP00000309124:p.Thr133Ser					OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc021qvb.1_Missense_Mutation_p.T133S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	p.T133S	NM_002543	NP_002534	P78380	OLR1_HUMAN			2	511	-			133			Neck.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	ENST00000309539.3	37	c.397A>T	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584056	0.28268	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000543993;ENST00000545927;ENST00000432556;ENST00000539518;ENST00000538745;ENST00000339968;ENST00000538873;ENST00000543414	T;T;T;T;T;T;T	0.34275	2.32;1.37;2.32;2.32;2.32;2.32;2.32	5.08	3.23	0.37069	C-type lectin-like (1);	0.269311	0.26895	N	0.021960	T	0.24586	0.0596	L	0.39245	1.2	0.21950	N	0.999454	B;B	0.20780	0.048;0.042	B;B	0.21708	0.036;0.015	T	0.23261	-1.0193	10	0.10902	T	0.67	.	7.93	0.29897	0.0:0.8002:0.0:0.1998	.	133;133	B4DI48;P78380	.;OLR1_HUMAN	S	133;133;29;133;133;80;29;29;29;80	ENSP00000309124:T133S;ENSP00000439251:T133S;ENSP00000442389:T80S;ENSP00000438925:T29S;ENSP00000340572:T29S;ENSP00000438744:T29S;ENSP00000444068:T80S	ENSP00000309124:T133S	T	-	1	0	OLR1	10210605	0.997000	0.39634	0.998000	0.56505	0.400000	0.30750	0.368000	0.20399	0.785000	0.33685	-0.242000	0.12053	ACA		0.403	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		A	10319338	T	A	10319338	3	1	146	1	0	0	0	0	1	0	0	0	10863	1725	60	5	440	5	OLR1	12	10319338	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		10319338	123532557	52	10015											
CSRNP2	81566	broad.mit.edu	37	chr12	51457947	51457947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaggatgggctgttcaccGttgaggcagttgggtggtct	6	12	17	6	1	2	1	1	1	1	0	2	2	2	2	1	5	0	6	1	5	1	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:51457947G>A	ENST00000228515.1	-	5	1511	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	405					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTGTTCACCGTTGAGGCAGT	0.567																																						uc021qxx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(1213-1215)aCg>aTg		Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.							90	92	92					12																	51457947		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51457947G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1214C>T	12.37:g.51457947G>A	ENSP00000228515:p.Thr405Met					CSRNP2_uc001rxu.2_Missense_Mutation_p.T405M	p.T405M	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			4	1726	-			405						Missense_Mutation	SNP	ENST00000228515.1	37	c.1214C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309740	0.23821	.	.	ENSG00000110925	ENST00000228515	T	0.46819	0.86	4.91	4.91	0.64330	.	0.958264	0.08707	N	0.905516	T	0.33760	0.0874	N	0.08118	0	0.09310	N	0.999999	B	0.33748	0.423	B	0.32583	0.148	T	0.32428	-0.9907	10	0.38643	T	0.18	-0.328	17.3939	0.87439	0.0:0.0:1.0:0.0	.	405	Q9H175	CSRN2_HUMAN	M	405	ENSP00000228515:T405M	ENSP00000228515:T405M	T	-	2	0	CSRNP2	49744214	0.849000	0.29639	0.095000	0.20976	0.814000	0.46013	5.485000	0.66850	2.728000	0.93425	0.555000	0.69702	ACG		0.567	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			A	51457947	G	A	51457947	3	1	146	1	0	0	0	0	1	0	0	0	3964	1145	40	1	421	1	CSRNP2	12	51457947	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	41138609	51457947	82393948	53	10016											
MYO1A	4640	broad.mit.edu	37	chr12	57430106	57430106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccatgctcttgtagatGaaatctgccaaggtgagggc	10	11	11	9	0	2	3	0	2	2	1	2	3	2	3	2	2	3	2	2	2	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:57430106G>T	ENST00000442789.2	-	23	2621	c.2334C>A	c.(2332-2334)ttC>ttA	p.F778L	MYO1A_ENST00000300119.3_Missense_Mutation_p.F778L|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.F616L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	778					microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTGTAGATGAAATCTGCCA	0.502																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2332-2334)ttC>ttA		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							160	158	159					12																	57430106		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57430106G>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2334C>A	12.37:g.57430106G>T	ENSP00000393392:p.Phe778Leu					MYO1A_uc010sqz.2_Missense_Mutation_p.F616L|MYO1A_uc009zpd.3_Missense_Mutation_p.F778L	p.F778L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			21	2574	-			778					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2334C>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073670	0.55646	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87029	-2.11;-2.11;-2.2	4.79	3.36	0.38483	.	0.353983	0.32231	N	0.006385	D	0.85600	0.5734	M	0.77820	2.39	0.47862	D	0.999532	D	0.56521	0.976	B	0.44315	0.446	T	0.83088	-0.0134	10	0.48119	T	0.1	.	6.5561	0.22462	0.1924:0.0:0.8076:0.0	.	778	Q9UBC5	MYO1A_HUMAN	L	778;778;616	ENSP00000300119:F778L;ENSP00000393392:F778L;ENSP00000440514:F616L	ENSP00000300119:F778L	F	-	3	2	MYO1A	55716373	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.729000	0.38115	0.763000	0.33175	0.563000	0.77884	TTC		0.502	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		T	57430106	G	T	57430106	3	4	146	1	0	0	0	0	1	0	0	0	10068	1281	45	5	825	5	MYO1A	12	57430106	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	5972159	57430106	76421789	54	10017											
IL22	50616	broad.mit.edu	37	chr12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagcttacactgactcCgtggaacagtttctccccaa	10	11	7	13	1	1	1	0	1	1	0	3	2	2	2	3	1	3	3	3	1	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68646552C>T	ENST00000538666.1	-	3	314	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_ENST00000328087.4_Missense_Mutation_p.G82R			Q9GZX6	IL22_HUMAN	interleukin 22	82					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498																																						uc001sty.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(244-246)Gga>Aga		Homo sapiens interleukin 22 (IL22), mRNA.							136	117	123					12																	68646552		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646552C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"Interleukins and interleukin receptors"	14900	protein-coding gene	gene with protein product	"IL-10-related T-cell-derived inducible factor"	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.244G>A	12.37:g.68646552C>T	ENSP00000442424:p.Gly82Arg					IL22_uc010stb.1_Missense_Mutation_p.G82R	p.G82R	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	1	297	-		Myeloproliferative disorder(1001;0.0255)	82						Missense_Mutation	SNP	ENST00000538666.1	37	c.244G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.709901	0.48517	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.319863	0.26383	N	0.024685	T	0.60521	0.2275	M	0.72118	2.19	0.34206	D	0.673707	D	0.89917	1.0	D	0.97110	1.0	T	0.69785	-0.5051	9	.	.	.	-8.155	10.4182	0.44335	0.0:0.9088:0.0:0.0912	.	82	Q9GZX6	IL22_HUMAN	R	82	ENSP00000442424:G82R;ENSP00000329384:G82R	.	G	-	1	0	IL22	66932819	0.451000	0.25705	0.916000	0.36221	0.145000	0.21501	1.230000	0.32612	2.768000	0.95171	0.558000	0.71614	GGA		0.498	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		T	68646552	C	T	68646552	3	4	146	1	0	0	0	0	1	0	0	0	7672	661	23	2	311	2	IL22	12	68646552	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	11216446	68646552	65205343	55	10018											
MDM1	56890	broad.mit.edu	37	chr12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagctacctgattggctGcaaaagctggagcagtttct	11	12	10	8	0	1	1	0	1	1	0	1	2	1	2	1	2	5	6	1	2	4	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338																																						uc001stz.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(622-624)gCa>gTa		Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.							121	133	129					12																	68719231		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68719231G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.623C>T	12.37:g.68719231G>A	ENSP00000302537:p.Ala208Val					MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Intron|MDM1_uc001sua.4_3'UTR|MDM1_uc010std.2_3'UTR	p.A208V	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	3	759	-			208					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.623C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA		0.338	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		A	68719231	G	A	68719231	3	1	146	1	0	0	0	0	1	0	0	0	9412	1319	46	3	1565	3	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	72679	68719231	65132664	56	10019											
KCNC2	3747	broad.mit.edu	37	chr12	75444575	75444575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttgagctcccactctctCggcatagtagatcatggtag	9	11	11	10	1	2	2	1	1	1	1	5	2	3	2	1	3	1	5	1	3	3	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:75444575C>T	ENST00000549446.1	-	3	1890	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	KCNC2_ENST00000540018.1_Missense_Mutation_p.E404K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E404K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E404K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E404K|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Missense_Mutation_p.E404K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E404K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E404K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	404					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCCACTCTCTCGGCATAGTAG	0.448																																						uc001sxg.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1210-1212)Gag>Aag		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.							72	68	70					12																	75444575		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444575C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1210G>A	12.37:g.75444575C>T	ENSP00000449253:p.Glu404Lys					KCNC2_uc009zry.3_Missense_Mutation_p.E404K|KCNC2_uc001sxe.3_Missense_Mutation_p.E404K|KCNC2_uc001sxf.3_Missense_Mutation_p.E404K|KCNC2_uc010stw.1_Missense_Mutation_p.E404K	p.E404K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	1754	-			404					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1210G>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921690	0.92319	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99585	0.9850	H	0.98314	4.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998	D	0.97855	1.0277	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	404;404;404;404;404	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	K	404	ENSP00000448301:E404K;ENSP00000449941:E404K;ENSP00000449253:E404K;ENSP00000340121:E404K;ENSP00000298972:E404K;ENSP00000319877:E404K;ENSP00000438423:E404K;ENSP00000376966:E404K	ENSP00000298972:E404K	E	-	1	0	KCNC2	73730842	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	GAG		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		T	75444575	C	T	75444575	3	4	146	1	0	0	0	0	1	0	0	0	8015	893	31	2	784	2	KCNC2	12	75444575	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	6725344	75444575	58407320	57	10020											
RIMBP2	23504	broad.mit.edu	37	chr12	130927141	130927141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgccaaccgcgactcGttgtcctgcacaaagtccac	8	9	9	15	3	0	0	0	0	0	0	3	1	2	0	4	0	4	3	4	0	2	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:130927141G>A	ENST00000261655.4	-	8	868	c.705C>T	c.(703-705)aaC>aaT	p.N235N	RIMBP2_ENST00000535703.1_Silent_p.N143N|RIMBP2_ENST00000536002.1_Silent_p.N143N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	235					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCGCGACTCGTTGTCCTGCA	0.582																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(703-705)aaC>aaT		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							121	121	121					12																	130927141		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927141G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.705C>T	12.37:g.130927141G>A						RIMBP2_uc001uim.3_Silent_p.N143N	p.N235N	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	7	921	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	235					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.705C>T	CCDS31925.1																																																																																				0.582	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130927141	G	A	130927141	2	1	146	1	0	0	0	0	0	0	0	1	13363	1136	40	1		1	RIMBP2	12	130927141	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	55482566	130927141	2924754	58	10021											
EP400	57634	broad.mit.edu	37	chr12	132490816	132490816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtggctgaagccatccTgccgaagggcagtgctcggg	6	7	17	11	3	0	1	0	1	0	0	2	2	1	1	3	4	4	3	3	4	2	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:132490816T>G	ENST00000333577.4	+	15	3312	c.3203T>G	c.(3202-3204)cTg>cGg	p.L1068R	EP400_ENST00000330386.6_Missense_Mutation_p.L1032R|EP400_ENST00000389562.2_Missense_Mutation_p.L1031R|EP400_ENST00000389561.2_Missense_Mutation_p.L1032R|EP400_ENST00000332482.4_Missense_Mutation_p.L995R			Q96L91	EP400_HUMAN	E1A binding protein p400	1068	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCCATCCTGCCGAAGGGC	0.542																																						uc001ujn.3																			0		p.P1032P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3094-3096)cTg>cGg		Homo sapiens E1A binding protein p400 (EP400), mRNA.							79	70	73					12																	132490816		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132490816T>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3203T>G	12.37:g.132490816T>G	ENSP00000333602:p.Leu1068Arg					EP400_uc021rgq.1_Missense_Mutation_p.L1031R|EP400_uc001ujm.3_Missense_Mutation_p.L1032R	p.L1032R	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	13	3247	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1068			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3095T>G		.	.	.	.	.	.	.	.	.	.	T	15.74	2.921795	0.52653	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	D	0.96703	0.8924	M	0.69823	2.125	0.39582	D	0.969448	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70716	0.97;0.97;0.97	D	0.97593	1.0118	10	0.62326	D	0.03	.	15.6057	0.76668	0.0:0.0:0.0:1.0	.	1032;1032;1031	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	R	1068;1032;1031;995;1032;1032;1032	ENSP00000333602:L1068R;ENSP00000374212:L1032R;ENSP00000374213:L1031R;ENSP00000331737:L995R;ENSP00000330620:L1032R	ENSP00000330620:L1032R	L	+	2	0	EP400	131056769	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.212000	0.77941	2.166000	0.68216	0.533000	0.62120	CTG		0.542	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132490816	T	G	132490816	3	3	146	1	0	0	0	0	1	0	0	0	5149	1580	55	5	3142	5	EP400	12	132490816	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	1563675	132490816	1361079	59	10022											
TSSK4	283629	broad.mit.edu	37	chr14	24675764	24675764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaacttctatcgggccaTtgagagcacatctcgagtat	11	11	8	11	2	3	1	1	1	2	1	5	3	3	1	1	1	2	2	1	1	3	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:24675764T>C	ENST00000287913.6	+	2	443	c.275T>C	c.(274-276)aTt>aCt	p.I92T	TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.I16T|TSSK4_ENST00000339917.5_Missense_Mutation_p.I92T			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TATCGGGCCATTGAGAGCACA	0.532																																						uc001wnh.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(274-276)aTt>aCt		Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.							173	147	156					14																	24675764		2203	4300	6503	SO:0001583	missense	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24675764T>C	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.275T>C	14.37:g.24675764T>C	ENSP00000287913:p.Ile92Thr					TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.I16T|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.I92T	p.I92T	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	479	+			92			Protein kinase.		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	c.275T>C	CCDS9618.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108444	0.37242	.	.	ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913	T;T;T	0.25250	1.81;1.81;1.81	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000123	T	0.27866	0.0686	M	0.63843	1.955	0.80722	D	1	B;B	0.29531	0.208;0.247	B;B	0.27715	0.049;0.082	T	0.10847	-1.0612	10	0.87932	D	0	.	12.2596	0.54642	0.0:0.0:0.0:1.0	.	92;92	Q6SA08-2;Q6SA08	.;TSSK4_HUMAN	T	92;16;92	ENSP00000339179:I92T;ENSP00000452054:I16T;ENSP00000287913:I92T	ENSP00000287913:I92T	I	+	2	0	TSSK4	23745604	0.975000	0.34042	0.996000	0.52242	0.973000	0.67179	2.414000	0.44627	2.087000	0.62958	0.379000	0.24179	ATT		0.532	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		C	24675764	T	C	24675764	3	2	146	1	0	0	0	0	1	0	0	0	16668	1493	52	4	281	4	TSSK4	14	24675764	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		24675764	82673776	60	10023											
LTBP2	4053	broad.mit.edu	37	chr14	74969471	74969471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcaggctcagggacGgtgtcctcggggcccaggta	7	5	19	10	2	1	0	1	0	0	0	3	2	2	2	2	8	0	3	2	8	2	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:74969471G>A	ENST00000261978.4	-	34	5441	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T	LTBP2_ENST00000556690.1_Silent_p.T1641T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1685					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGGGACGGTGTCCTCGG	0.637																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5053-5055)acC>acT		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							84	84	84					14																	74969471		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969471G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5055C>T	14.37:g.74969471G>A							p.T1685T	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	33	5442	-			1685					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.5055C>T	CCDS9831.1																																																																																				0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	74969471	G	A	74969471	2	1	146	1	0	0	0	0	0	0	0	1	9074	1103	39	2		2	LTBP2	14	74969471	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	50293707	74969471	32380069	61	10024											
PROX2	283571	broad.mit.edu	37	chr14	75329549	75329549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtcaagggaaagtttGctgggggatcctgacagggt	9	9	17	6	0	1	1	1	1	0	0	2	3	2	3	1	4	2	3	1	4	2	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:75329549G>C	ENST00000445876.1	-	1	988	c.989C>G	c.(988-990)gCa>gGa	p.A330G	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Missense_Mutation_p.A330G			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	330					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGAAAGTTTGCTGGGGGATC	0.502																																						uc021rwo.1																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(988-990)gCa>gGa		Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.							65	69	68					14																	75329549		1870	4113	5983	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329549G>C		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.989C>G	14.37:g.75329549G>C	ENSP00000405932:p.Ala330Gly					PROX2_uc001xqp.2_Missense_Mutation_p.A330G|PROX2_uc001xqq.2_Intron	p.A330G	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	0	989	-			330					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.989C>G	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	1.160	-0.643972	0.03531	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.42900	0.96;0.96	5.16	0.933	0.19471	.	0.865996	0.09999	N	0.728762	T	0.22437	0.0541	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.23226	-1.0194	10	0.22706	T	0.39	2.6872	1.1395	0.01762	0.2143:0.3295:0.2876:0.1686	.	330	G3V3G0	.	G	330	ENSP00000451223:A330G;ENSP00000405932:A330G	ENSP00000374315:A330G	A	-	2	0	PROX2	74399302	0.832000	0.29368	0.007000	0.13788	0.142000	0.21351	1.921000	0.40035	0.320000	0.23234	-0.266000	0.10368	GCA		0.502	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	75329549	G	C	75329549	3	2	146	1	0	0	0	0	1	0	0	0	12561	1319	46	5	805	5	PROX2	14	75329549	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	360078	75329549	32019991	62	10025											
MESDC2	23184	broad.mit.edu	37	chr15	81282094	81282094	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtcagaggcacaaagCaggaccacggccttgcgcgc	11	3	14	13	3	1	1	1	0	0	1	1	2	1	2	2	4	3	3	2	4	1	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr15:81282094C>A	ENST00000261758.4	-	1	125	c.39G>T	c.(37-39)ctG>ctT	p.L13L	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	13	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AGGCACAAAGCAGGACCACGG	0.721																																						uc002bfy.1																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(37-39)ctG>ctT		Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.							20	19	19					15																	81282094		2198	4292	6490	SO:0001819	synonymous_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282094C>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.39G>T	15.37:g.81282094C>A						MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	p.L13L	NM_015154	NP_055969	Q14696	MESD_HUMAN			0	112	-			13			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.39G>T	CCDS32308.1																																																																																				0.721	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		A	81282094	C	A	81282094	2	1	146	1	0	0	0	0	0	0	0	1	9481	697	25	5		5	MESDC2	15	81282094	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08		81282094	21249298	63	10026											
CPPED1	55313	broad.mit.edu	37	chr16	12875067	12875067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcgtggatgaggtcgccGcacagaacgaagaatttggg	11	7	16	7	4	0	3	0	1	0	2	1	5	0	4	1	4	1	1	1	4	3	1	rs202024707		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:12875067G>A	ENST00000381774.4	-	2	504	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_ENST00000433677.2_Silent_p.C88C|CPPED1_ENST00000261660.4_Silent_p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	88	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		18749	0		0	False		,,,				2504	0					uc002dca.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(262-264)tgC>tgT		Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.		G	,	1,4135		0,1,2067	90	97	94		264,264	-8.1	0.7	16		94	3,8423		0,3,4210	no	coding-synonymous,coding-synonymous	CPPED1	NM_001099455.1,NM_018340.2	,	0,4,6277	AA,AG,GG		0.0356,0.0242,0.0318	,	88/173,88/315	12875067	4,12558	2068	4213	6281	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12875067G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.264C>T	16.37:g.12875067G>A						CPPED1_uc002dcb.4_Silent_p.C88C	p.C88C	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			1	375	-			88					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.264C>T	CCDS42120.1																																																																																				0.532	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		A	12875067	G	A	12875067	2	1	146	1	0	0	0	0	0	0	0	1	3822	1079	38	1		1	CPPED1	16	12875067	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08		12875067	77479686	64	10027											
CIRH1A	84916	broad.mit.edu	37	chr16	69201051	69201051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagatgtcatccggaggcGcacagctcatgcttttaaaa	12	10	9	10	2	3	1	3	0	0	1	4	2	4	2	1	2	2	3	1	2	2	2	rs34057086		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:69201051G>A	ENST00000314423.7	+	16	2084	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R521H|CIRH1A_ENST00000563094.1_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	636					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATCCGGAGGCGCACAGCTCAT	0.348													G|||	1	0.000199681	8e-04	0	5008	,	,		19379	0		0	False		,,,				2504	0				Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1906-1908)cGc>cAc		Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.		G	HIS/ARG	14,4382	20.2+/-43.8	0,14,2184	112	115	114		1907	4.1	1	16	dbSNP_126	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CIRH1A	NM_032830.2	29	0,15,6483	AA,AG,GG		0.0116,0.3185,0.1154	benign	636/687	69201051	15,12981	2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69201051G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1907G>A	16.37:g.69201051G>A	ENSP00000327179:p.Arg636His					CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.3_Missense_Mutation_p.R438H	p.R636H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	2003	+			636					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1907G>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870897	0.51695	0.003185	1.16E-4	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.39787	1.59;1.06	6.03	4.08	0.47627	.	0.439409	0.27691	N	0.018245	T	0.26048	0.0635	N	0.16478	0.41	0.80722	D	1	B	0.19073	0.033	B	0.08055	0.003	T	0.06570	-1.0819	10	0.45353	T	0.12	.	10.0951	0.42471	0.1592:0.0:0.8408:0.0	rs34057086	636	Q969X6	CIR1A_HUMAN	H	636;521	ENSP00000327179:R636H;ENSP00000339164:R521H	ENSP00000327179:R636H	R	+	2	0	CIRH1A	67758552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.012000	0.49575	1.564000	0.49628	0.655000	0.94253	CGC		0.348	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		A	69201051	G	A	69201051	3	1	146	1	0	0	0	0	1	0	0	0	3434	1087	38	1	1965	1	CIRH1A	16	69201051	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	56325984	69201051	21153702	65	10028											
MYH2	4620	broad.mit.edu	37	chr17	10430055	10430055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcatactgttcccGcagcaggtcacagtcgtggc	6	10	9	16	2	2	0	2	0	0	0	6	0	5	0	3	2	2	3	3	2	1	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:10430055G>A	ENST00000245503.5	-	30	4432	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1350W|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1350					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACTGTTCCCGCAGCAGGTCA	0.547																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4048-4050)Cgg>Tgg		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							126	116	119					17																	10430055		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430055G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4048C>T	17.37:g.10430055G>A	ENSP00000245503:p.Arg1350Trp					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1350W|MYH2_uc010coj.3_Intron	p.R1350W	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			29	4176	-			1350					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4048C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221909	0.79464	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84730	-1.89;-1.89	5.35	3.19	0.36642	Myosin tail (1);	0.000000	0.35179	U	0.003387	D	0.94817	0.8326	H	0.97465	4.01	0.47862	D	0.999535	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	14.3267	0.66526	0.0:0.0:0.6428:0.3572	.	1350	Q9UKX2	MYH2_HUMAN	W	1350	ENSP00000245503:R1350W;ENSP00000380367:R1350W	ENSP00000245503:R1350W	R	-	1	2	MYH2	10370780	0.372000	0.25064	1.000000	0.80357	0.999000	0.98932	0.671000	0.25172	1.436000	0.47453	0.655000	0.94253	CGG		0.547	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10430055	G	A	10430055	3	1	146	1	0	0	0	0	1	0	0	0	10035	1086	38	1	1821	1	MYH2	17	10430055	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		10430055	70765155	66	10029											
JMJD6	23210	broad.mit.edu	37	chr17	74721588	74721588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccccagcatactggaaaAggtcatcagtgaaaaacttt	14	10	7	10	0	3	1	2	1	1	0	4	2	3	2	2	2	3	1	2	2	5	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:74721588A>G	ENST00000397625.4	-	2	593	c.479T>C	c.(478-480)cTt>cCt	p.L160P	METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.L160P|METTL23_ENST00000586738.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.L160P|METTL23_ENST00000590964.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	160	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ATACTGGAAAAGGTCATCAGT	0.393																																						uc002jso.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(478-480)cTt>cCt		Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.							83	81	82					17																	74721588		1858	4092	5950	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74721588A>G	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.479T>C	17.37:g.74721588A>G	ENSP00000380750:p.Leu160Pro					JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	p.L160P	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN			1	803	-			160			JmjC.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.479T>C	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140873	0.77775	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.74947	-0.89;-0.89	5.66	5.66	0.87406	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	H	0.97158	3.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.93898	0.7186	10	0.87932	D	0	-2.5349	15.8956	0.79333	1.0:0.0:0.0:0.0	.	160;160;160	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	P	160	ENSP00000394085:L160P;ENSP00000380750:L160P	ENSP00000302916:L160P	L	-	2	0	JMJD6	72233183	1.000000	0.71417	0.978000	0.43139	0.713000	0.41058	9.325000	0.96381	2.144000	0.66660	0.459000	0.35465	CTT		0.393	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		G	74721588	A	G	74721588	3	3	146	1	0	0	0	0	1	0	0	0	7953	72	3	4	793	4	JMJD6	17	74721588	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	64291533	74721588	6473622	67	10030											
PTPRM	5797	broad.mit.edu	37	chr18	7888281	7888281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcaataacgggccacTggggaatcctatctggaata	13	8	12	8	1	2	0	1	0	1	0	3	3	3	2	2	5	1	0	2	5	7	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:7888281T>A	ENST00000332175.8	+	3	1411	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.L125Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.L63Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.L125Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	125	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACGGGCCACTGGGGAATCCT	0.453																																						uc002knn.4																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(373-375)cTg>cAg		Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.							82	82	82					18																	7888281		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888281T>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.374T>A	18.37:g.7888281T>A	ENSP00000331418:p.Leu125Gln					PTPRM_uc010dkv.3_Missense_Mutation_p.L125Q	p.L125Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			2	877	+		Colorectal(10;0.234)	125			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.374T>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289388	0.40494	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.284632	0.35067	N	0.003466	T	0.02494	0.0076	N	0.21545	0.675	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.15052	0.012;0.012	T	0.60403	-0.7270	10	0.27082	T	0.32	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	125;125	A7MBN1;P28827	.;PTPRM_HUMAN	Q	125;125;63	ENSP00000331418:L125Q;ENSP00000382933:L125Q;ENSP00000382927:L63Q	ENSP00000331418:L125Q	L	+	2	0	PTPRM	7878281	1.000000	0.71417	0.918000	0.36340	0.973000	0.67179	3.331000	0.52075	2.326000	0.78906	0.533000	0.62120	CTG		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	7888281	T	A	7888281	3	1	146	1	0	0	0	0	1	0	0	0	12806	1580	55	5	384	5	PTPRM	18	7888281	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		7888281	70188967	68	10031											
DCC	1630	broad.mit.edu	37	chr18	50734176	50734176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatataacagtggttaCactttctgacggtaagttaa	13	14	9	5	1	1	3	0	3	1	0	1	3	1	3	0	2	2	3	0	2	5	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:50734176C>G	ENST00000442544.2	+	11	2466	c.1850C>G	c.(1849-1851)aCa>aGa	p.T617R	DCC_ENST00000581580.1_Missense_Mutation_p.T272R|DCC_ENST00000412726.1_Missense_Mutation_p.T465R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	617	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTGGTTACACTTTCTGAC	0.338																																						uc002lfe.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1849-1851)aCa>aGa		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							127	130	129					18																	50734176		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734176C>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1850C>G	18.37:g.50734176C>G	ENSP00000389140:p.Thr617Arg					DCC_uc010xdr.1_Missense_Mutation_p.T465R|DCC_uc010dpf.2_Missense_Mutation_p.T272R	p.T617R	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2466	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	617						Missense_Mutation	SNP	ENST00000442544.2	37	c.1850C>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476291	0.44044	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.64991	-0.13;-0.13	5.83	5.83	0.93111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	H	0.99299	4.505	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93054	0.6468	10	0.87932	D	0	.	18.8898	0.92395	0.0:1.0:0.0:0.0	.	465;465;617	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	R	617;550;465	ENSP00000389140:T617R;ENSP00000397322:T465R	ENSP00000304146:T550R	T	+	2	0	DCC	48988174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.407000	0.73280	2.775000	0.95449	0.650000	0.86243	ACA		0.338	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		G	50734176	C	G	50734176	3	3	146	1	0	0	0	0	1	0	0	0	4282	478	17	5	1892	5	DCC	18	50734176	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	42845895	50734176	27343072	69	10032											
MUC16	94025	broad.mit.edu	37	chr19	9067947	9067947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacagagggtgggcttGtccctgatatgtactcagga	8	12	12	9	0	1	2	1	1	0	1	3	3	3	3	2	3	1	2	2	3	2	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:9067947G>C	ENST00000397910.4	-	3	19702	c.19499C>G	c.(19498-19500)aCa>aGa	p.T6500R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6502	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGGGCTTGTCCCTGATAT	0.468																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19498-19500)aCa>aGa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							132	132	132					19																	9067947		1948	4140	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067947G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19499C>G	19.37:g.9067947G>C	ENSP00000381008:p.Thr6500Arg						p.T6500R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	19703	-			6502			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19499C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.531	-0.308532	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.64	0.48	0.16804	.	.	.	.	.	T	0.19167	0.0460	L	0.38175	1.15	.	.	.	D	0.58268	0.982	P	0.44422	0.449	T	0.23976	-1.0173	8	0.87932	D	0	.	4.3844	0.11309	0.2198:0.0:0.7802:0.0	.	6500	B5ME49	.	R	6500	ENSP00000381008:T6500R	ENSP00000381008:T6500R	T	-	2	0	MUC16	8928947	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.004000	0.13106	0.240000	0.21263	0.177000	0.17058	ACA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9067947	G	C	9067947	3	2	146	1	0	0	0	0	1	0	0	0	9973	1377	48	5	24352	5	MUC16	19	9067947	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		9067947	50061036	70	10033											
GAPDHS	26330	broad.mit.edu	37	chr19	36029512	36029512	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgactccacccacggcCgatacaagggaagtgtggaa	13	6	12	10	2	0	1	0	1	0	0	1	4	1	3	3	3	1	1	3	3	5	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:36029512C>T	ENST00000222286.4	+	4	492	c.376C>T	c.(376-378)Cga>Tga	p.R126*	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	126					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCCACGGCCGATACAAGGG	0.522																																						uc002oaf.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(376-378)Cga>Tga		Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	NADH(DB00157)						113	98	103					19																	36029512		2203	4300	6503	SO:0001587	stop_gained	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36029512C>T	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.376C>T	19.37:g.36029512C>T	ENSP00000222286:p.Arg126*						p.R126*	NM_014364	NP_055179	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	492	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		126					B2RC82|O60823|Q6JTT9|Q9HCU6	Nonsense_Mutation	SNP	ENST00000222286.4	37	c.376C>T	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	39	7.515486	0.98332	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.5	3.19	0.36642	.	0.141181	0.48286	D	0.000187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6222	12.5031	0.55966	0.4653:0.5347:0.0:0.0	.	.	.	.	X	126	.	ENSP00000222286:R126X	R	+	1	2	GAPDHS	40721352	0.818000	0.29161	0.369000	0.25952	0.975000	0.68041	3.288000	0.51739	0.460000	0.27045	0.655000	0.94253	CGA		0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		T	36029512	C	T	36029512	4	4	146	1	0	0	0	0	0	1	0	0	6237	644	23	2	390	2	GAPDHS	19	36029512	Nonsense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26961565	36029512	23099471	71	10034											
NLRP5	126206	broad.mit.edu	37	chr19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgtatttgcggaaaattCgggtggatgtcaaagggatc	10	11	14	6	3	1	0	1	0	0	0	4	3	2	3	1	4	1	1	1	4	4	3	rs537471101		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:56539808C>T	ENST00000390649.3	+	7	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		19546	0		0	False		,,,				2504	0					uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2209-2211)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							151	151	151					19																	56539808		2010	4186	6196	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539808C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2209C>T	19.37:g.56539808C>T	ENSP00000375063:p.Arg737Trp					NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	p.R737W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	2209	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	737					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2209C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355347	0.41700	.	.	ENSG00000171487	ENST00000390649	D	0.89681	-2.55	3.26	2.19	0.27852	.	0.000000	0.33438	N	0.004906	D	0.92074	0.7488	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83301	-0.0028	10	0.56958	D	0.05	.	7.7281	0.28771	0.2506:0.7494:0.0:0.0	.	737	P59047	NALP5_HUMAN	W	737	ENSP00000375063:R737W	ENSP00000375063:R737W	R	+	1	2	NLRP5	61231620	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.265000	0.18515	0.903000	0.36546	0.561000	0.74099	CGG		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539808	C	T	56539808	3	4	146	1	0	0	0	0	1	0	0	0	10480	875	31	2	2235	2	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	20510296	56539808	2589175	72	10035											
TMC2	117532	broad.mit.edu	37	chr20	2539347	2539347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagggcctccttccaggagCggacagcagccccaaagagg	11	3	14	13	1	0	2	0	0	0	2	2	4	2	4	5	4	3	1	5	4	1	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:2539347C>T	ENST00000358864.1	+	3	343	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	110	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCCAGGAGCGGACAGCAGC	0.622																																						uc002wgf.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(328-330)Cgg>Tgg		Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.							25	25	25					20																	2539347		2197	4298	6495	SO:0001583	missense	117532					integral to membrane		g.chr20:2539347C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.328C>T	20.37:g.2539347C>T	ENSP00000351732:p.Arg110Trp					TMC2_uc002wgg.1_Missense_Mutation_p.R94W|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	p.R110W	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			2	343	+			110			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.328C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299217	0.23650	.	.	ENSG00000149488	ENST00000358864	T	0.51325	0.71	4.59	3.61	0.41365	.	0.640244	0.15809	N	0.243578	T	0.29190	0.0726	N	0.19112	0.55	0.21220	N	0.999752	P;P	0.51653	0.947;0.74	B;B	0.36959	0.237;0.109	T	0.10636	-1.0621	10	0.66056	D	0.02	-5.4321	10.3106	0.43706	0.1978:0.8022:0.0:0.0	.	110;110	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	W	110	ENSP00000351732:R110W	ENSP00000351732:R110W	R	+	1	2	TMC2	2487347	0.939000	0.31865	0.708000	0.30435	0.012000	0.07955	1.324000	0.33712	1.185000	0.42971	0.555000	0.69702	CGG		0.622	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2539347	C	T	2539347	3	4	146	1	0	0	0	0	1	0	0	0	15982	759	27	1	338	1	TMC2	20	2539347	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		2539347	60486173	73	10036											
C20orf111	51526	broad.mit.edu	37	chr20	42826177	42826177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtagagctttctcCtgcactgaactctttagggg	10	11	12	8	0	2	3	0	1	2	2	3	5	2	3	1	2	3	3	1	2	4	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:42826177C>T	ENST00000372970.2	-	6	574	c.394G>A	c.(394-396)Gga>Aga	p.G132R	OSER1_ENST00000255174.2_Missense_Mutation_p.G132R			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	132					cellular response to hydrogen peroxide (GO:0070301)												GAGCTTTCTCCTGCACTGAAC	0.498																																						uc002xlk.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(394-396)Gga>Aga		Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.							106	105	105					20																	42826177		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42826177C>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.394G>A	20.37:g.42826177C>T	ENSP00000362061:p.Gly132Arg						p.G132R	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	646	-		Myeloproliferative disorder(115;0.028)	132					B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.394G>A	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408295	0.25378	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.40225	1.04;1.04	5.58	3.27	0.37495	.	0.773311	0.12561	N	0.458193	T	0.20414	0.0491	N	0.08118	0	0.20074	N	0.999936	B	0.15930	0.015	B	0.15052	0.012	T	0.08659	-1.0711	10	0.44086	T	0.13	-8.7699	3.7441	0.08541	0.0:0.4984:0.2162:0.2854	.	132	Q9NX31	CT111_HUMAN	R	132	ENSP00000255174:G132R;ENSP00000362061:G132R	ENSP00000255174:G132R	G	-	1	0	C20orf111	42259591	0.002000	0.14202	0.956000	0.39512	0.982000	0.71751	0.367000	0.20382	1.489000	0.48450	0.591000	0.81541	GGA		0.498	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		T	42826177	C	T	42826177	3	4	146	1	0	0	0	0	1	0	0	0	2080	690	24	3	488	3	C20orf111	20	42826177	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	40286830	42826177	20199343	74	10037											
PCK1	5105	broad.mit.edu	37	chr20	56138743	56138743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtggaaggttgagtgCgtcggggatgacattgcctg	6	9	18	8	3	0	2	0	2	0	0	1	4	0	4	2	5	2	1	2	5	1	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:56138743C>T	ENST00000319441.4	+	6	1085	c.921C>T	c.(919-921)tgC>tgT	p.C307C	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.C175C	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	307					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGGTTGAGTGCGTCGGGGATG	0.567																																						uc002xyn.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(919-921)tgC>tgT		Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.							129	115	120					20																	56138743		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138743C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.921C>T	20.37:g.56138743C>T						PCK1_uc010zzm.2_Intron	p.C307C	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	1084	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		307					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.921C>T	CCDS13460.1																																																																																				0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			T	56138743	C	T	56138743	2	4	146	1	0	0	0	0	0	0	0	1	11581	776	27	1		1	PCK1	20	56138743	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	13312566	56138743	6886777	75	10038											
C2CD2	25966	broad.mit.edu	37	chr21	43327136	43327136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccctccccacgtcgacgCgaggcttggtcttcacagca	7	7	10	17	5	2	0	1	0	1	0	4	2	3	0	3	2	1	2	3	2	0	2	rs571197268		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43327136C>T	ENST00000380486.3	-	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	C2CD2_ENST00000329623.7_Missense_Mutation_p.R273H	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	428						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACGTCGACGCGAGGCTTGGT	0.592																																						uc002yzw.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1282-1284)cGc>cAc		Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.							86	73	78					21																	43327136		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43327136C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1283G>A	21.37:g.43327136C>T	ENSP00000369853:p.Arg428His					C2CD2_uc002yzt.3_Missense_Mutation_p.R44H|C2CD2_uc002yzu.3_Missense_Mutation_p.R260H|C2CD2_uc002yzv.3_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	p.R428H	NM_015500	NP_950251	Q9Y426	CU025_HUMAN			9	1525	-			428					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1283G>A	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256072	0.59321	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.29917	1.55;1.55	4.9	4.0	0.46444	.	0.182021	0.49916	D	0.000136	T	0.44244	0.1284	M	0.71581	2.175	0.31137	N	0.707058	D;D	0.76494	0.996;0.999	P;P	0.59221	0.642;0.854	T	0.52442	-0.8575	10	0.66056	D	0.02	-22.7842	6.385	0.21556	0.1567:0.6864:0.0:0.1568	.	273;428	Q6P6D1;Q9Y426	.;CU025_HUMAN	H	273;428	ENSP00000329302:R273H;ENSP00000369853:R428H	ENSP00000329302:R273H	R	-	2	0	C2CD2	42200205	0.979000	0.34478	0.931000	0.37212	0.443000	0.32047	2.502000	0.45398	2.413000	0.81919	0.655000	0.94253	CGC		0.592	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		T	43327136	C	T	43327136	3	4	146	1	0	0	0	0	1	0	0	0	2152	768	27	1	827	1	C2CD2	21	43327136	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		43327136	4802759	76	10039											
ABCG1	9619	broad.mit.edu	37	chr21	43711761	43711761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagccgcctccacgtccCtgcaggtgccagcccaggag	6	5	13	17	3	0	0	0	0	0	0	3	2	2	2	6	3	4	1	6	3	0	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43711761C>T	ENST00000361802.2	+	13	1829	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	ABCG1_ENST00000347800.2_Silent_p.L547L|ABCG1_ENST00000398457.2_Silent_p.L552L|ABCG1_ENST00000343687.3_Silent_p.L561L|ABCG1_ENST00000398437.1_Silent_p.L708L|ABCG1_ENST00000398449.3_Silent_p.L550L|ABCG1_ENST00000340588.4_Silent_p.L670L|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	562	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTCCACGTCCCTGCAGGTGCC	0.677																																						uc011aev.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1717-1719)Ctg>Ttg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	Adenosine triphosphate(DB00171)						28	25	26					21																	43711761		2203	4298	6501	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43711761C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1684C>T	21.37:g.43711761C>T						ABCG1_uc002zam.3_Silent_p.L528L|ABCG1_uc002zan.3_Silent_p.L552L|ABCG1_uc002zao.3_Silent_p.L547L|ABCG1_uc002zap.3_Silent_p.L550L|ABCG1_uc002zaq.3_Silent_p.L562L|ABCG1_uc002zar.3_Silent_p.L561L|ABCG1_uc010gpb.2_Missense_Mutation_p.P202L	p.L573L	NM_004915	NP_004906	P45844	ABCG1_HUMAN			12	1791	+			562			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.1717C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	8.542	0.873384	0.17322	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.12	1.78	0.24846	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49943	-0.8885	4	.	.	.	-18.5396	7.9122	0.29798	0.0:0.6754:0.0:0.3246	.	.	.	.	L	297;285;285	.	.	P	+	2	0	ABCG1	42584830	0.953000	0.32496	0.998000	0.56505	0.918000	0.54935	1.931000	0.40134	0.840000	0.34995	0.591000	0.81541	CCT		0.677	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		T	43711761	C	T	43711761	2	4	146	1	0	0	0	0	0	0	0	1	68	680	24	3		3	ABCG1	21	43711761	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	384625	43711761	4418134	77	10040											
ITGB2	3689	broad.mit.edu	37	chr21	46320283	46320283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtgacagcggccGtcgttgggggtcaggatggc	5	8	17	11	3	1	1	1	1	0	0	4	2	3	2	3	6	1	1	3	6	0	1	rs35013643	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320283G>A	ENST00000397850.2	-	8	1301	c.849C>T	c.(847-849)gaC>gaT	p.D283D	ITGB2_ENST00000397854.3_Silent_p.D226D|ITGB2_ENST00000302347.5_Silent_p.D283D|ITGB2_ENST00000397852.1_Silent_p.D283D|ITGB2_ENST00000355153.4_Silent_p.D283D|ITGB2_ENST00000397857.1_Silent_p.D283D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	283	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACAGCGGCCGTCGTTGGGGG	0.642													G|||	3	0.000599042	0	0	5008	,	,		17479	0.003		0	False		,,,				2504	0					uc002zgd.2																			0		p.N282fs*41(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(847-849)gaC>gaT		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						111	91	98					21																	46320283		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320283G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.849C>T	21.37:g.46320283G>A						ITGB2_uc002zgf.3_Silent_p.D283D|ITGB2_uc011afl.1_Silent_p.D205D|ITGB2_uc010gpw.2_Silent_p.D226D|ITGB2_uc002zgg.2_Silent_p.D283D	p.D283D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	893	-			283			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.849C>T	CCDS13716.1																																																																																				0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		A	46320283	G	A	46320283	2	1	146	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46320283	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	2608522	46320283	1809612	78	10041											
ITGB2	3689	broad.mit.edu	37	chr21	46320342	46320342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaaatggaagccgtcatCagtggcaaacaccagcagcc	13	4	11	13	3	2	0	2	0	0	0	2	2	2	1	3	2	4	2	3	2	3	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320342C>A	ENST00000397850.2	-	8	1242	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	ITGB2_ENST00000397854.3_Missense_Mutation_p.D207Y|ITGB2_ENST00000302347.5_Missense_Mutation_p.D264Y|ITGB2_ENST00000397852.1_Missense_Mutation_p.D264Y|ITGB2_ENST00000355153.4_Missense_Mutation_p.D264Y|ITGB2_ENST00000397857.1_Missense_Mutation_p.D264Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	264	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AAGCCGTCATCAGTGGCAAAC	0.627																																						uc002zgd.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(790-792)Gat>Tat		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						83	75	77					21																	46320342		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320342C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.790G>T	21.37:g.46320342C>A	ENSP00000380948:p.Asp264Tyr					ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	p.D264Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	834	-			264			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.790G>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295480	0.60086	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.98	4.98	0.66077	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.99606	0.9857	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97755	1.0217	9	0.87932	D	0	.	15.7916	0.78369	0.0:1.0:0.0:0.0	.	207;264	A8MYE6;P05107	.;ITB2_HUMAN	Y	264;264;207;264;264;264;207;255	ENSP00000380950:D264Y;ENSP00000380955:D264Y;ENSP00000380952:D207Y;ENSP00000347279:D264Y;ENSP00000380948:D264Y;ENSP00000303242:D264Y;ENSP00000317697:D255Y	ENSP00000303242:D264Y	D	-	1	0	ITGB2	45144770	1.000000	0.71417	0.066000	0.19879	0.056000	0.15407	7.143000	0.77348	2.593000	0.87608	0.655000	0.94253	GAT		0.627	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		A	46320342	C	A	46320342	3	1	146	1	0	0	0	0	1	0	0	0	7894	826	29	5	1559	5	ITGB2	21	46320342	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	59	46320342	1809553	79	10042											
INPP5J	27124	broad.mit.edu	37	chr22	31523945	31523945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaacagcctcgtgtTctggttcggggacctgaact	8	9	10	14	2	1	1	0	1	1	0	3	2	1	2	4	3	3	2	4	3	2	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:31523945T>A	ENST00000331075.5	+	7	1845	c.1796T>A	c.(1795-1797)tTc>tAc	p.F599Y	INPP5J_ENST00000404390.3_Missense_Mutation_p.F231Y|INPP5J_ENST00000400294.2_Missense_Mutation_p.F232Y|INPP5J_ENST00000412277.2_Missense_Mutation_p.F532Y|INPP5J_ENST00000401755.1_De_novo_Start_OutOfFrame|INPP5J_ENST00000404453.1_De_novo_Start_OutOfFrame|INPP5J_ENST00000405300.1_Missense_Mutation_p.F232Y|INPP5J_ENST00000402238.1_De_novo_Start_OutOfFrame	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	599	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGCCTCGTGTTCTGGTTCGGG	0.577																																						uc003aju.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1795-1797)tTc>tAc		Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.							45	43	44					22																	31523945		1907	4116	6023	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31523945T>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1796T>A	22.37:g.31523945T>A	ENSP00000333262:p.Phe599Tyr					INPP5J_uc003ajw.3_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.4_Missense_Mutation_p.F231Y|INPP5J_uc003ajv.4_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.4_Missense_Mutation_p.F232Y|INPP5J_uc011alk.2_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.3_Missense_Mutation_p.F164Y	p.F599Y	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			6	1888	+			599			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1796T>A		.	.	.	.	.	.	.	.	.	.	T	18.71	3.681428	0.68042	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8	4.55	3.51	0.40186	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.057444	0.64402	D	0.000001	D	0.97692	0.9243	M	0.89715	3.055	0.48830	D	0.999717	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.991	D	0.97379	0.9981	10	0.87932	D	0	.	10.3529	0.43948	0.0:0.0788:0.0:0.9212	.	532;599;231	B4DF95;Q15735;Q15735-3	.;PI5PA_HUMAN;.	Y	599;532;232;232;231	ENSP00000333262:F599Y;ENSP00000392924:F532Y;ENSP00000383150:F232Y;ENSP00000384596:F232Y;ENSP00000384534:F231Y	ENSP00000333262:F599Y	F	+	2	0	INPP5J	29853945	1.000000	0.71417	0.957000	0.39632	0.535000	0.34838	7.619000	0.83057	0.689000	0.31550	0.533000	0.62120	TTC		0.577	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		A	31523945	T	A	31523945	3	1	146	1	0	0	0	0	1	0	0	0	7759	1783	62	5	718	5	INPP5J	22	31523945	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		31523945	19780621	80	10043											
DEPDC5	9681	broad.mit.edu	37	chr22	32239728	32239728	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtggaattctcccacGaacggctggaggagtacaag	10	7	15	9	2	1	0	0	0	1	0	2	4	1	3	1	5	2	3	1	5	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:32239728G>T	ENST00000382112.3	+	28	2774	c.2704G>T	c.(2704-2706)Gaa>Taa	p.E902*	DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.E911*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.E902*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.E911*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.E833*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.E833*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.E911*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.E902*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	911					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTCCCACGAACGGCTGGA	0.498																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2731-2733)Gaa>Taa		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							92	88	90					22																	32239728		1883	4111	5994	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32239728G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2704G>T	22.37:g.32239728G>T	ENSP00000371546:p.Glu902*					DEPDC5_uc011als.2_Nonsense_Mutation_p.E833*|DEPDC5_uc003als.3_Nonsense_Mutation_p.E902*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.E902*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.E351*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	p.E911*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			28	2933	+			902					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.2731G>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.139168|8.139168	0.98672|0.98672	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	.|.	.|.	.|.	5.91|5.91	4.91|4.91	0.64330|0.64330	.|.	0.050413|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70159	.|0.3192	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69621	.|-0.5096	.|4	0.52906|.	T|.	0.07|.	.|.	14.144|14.144	0.65339|0.65339	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	.|.	.|.	.|.	X|L	833;911;902;833;911;833;902;911;902|308	.|.	ENSP00000266091:E911X|.	E|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30569728|30569728	1.000000|1.000000	0.71417|0.71417	0.805000|0.805000	0.32314|0.32314	0.988000|0.988000	0.76386|0.76386	8.793000|8.793000	0.91862|0.91862	1.525000|1.525000	0.49052|0.49052	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		T	32239728	G	T	32239728	4	4	146	1	0	0	0	0	0	1	0	0	4442	1059	37	5	2832	5	DEPDC5	22	32239728	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	715783	32239728	19064838	81	10044											
MAGEB1	4112	broad.mit.edu	37	chrX	30269614	30269614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacgacttttagagcgcGttctagagccccattcagca	9	10	9	13	3	2	2	1	0	1	2	2	3	2	2	3	0	4	2	3	0	2	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:30269614G>A	ENST00000378981.3	+	4	1325	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	MAGEB1_ENST00000397548.2_Missense_Mutation_p.R335H|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R335H	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	335										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTAGAGCGCGTTCTAGAGCC	0.507																																						uc022buh.1																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(1003-1005)cGt>cAt		Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.							69	64	66					X																	30269614		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269614G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.1004G>A	X.37:g.30269614G>A	ENSP00000368264:p.Arg335His					MAGEB1_uc004dcc.3_Missense_Mutation_p.R335H|MAGEB1_uc004dcd.3_Missense_Mutation_p.R335H|MAGEB1_uc004dce.3_Missense_Mutation_p.R335H	p.R335H	NM_177415	NP_803134	P43366	MAGB1_HUMAN			0	1004	+			335					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.1004G>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888267	0.17540	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01599	4.74;4.74;4.74	3.1	-2.71	0.05986	.	.	.	.	.	T	0.01092	0.0036	N	0.16708	0.43	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.47182	-0.9137	9	0.25106	T	0.35	.	3.4023	0.07328	0.1135:0.4712:0.2545:0.1608	.	335	P43366	MAGB1_HUMAN	H	335	ENSP00000368264:R335H;ENSP00000380683:R335H;ENSP00000380681:R335H	ENSP00000368264:R335H	R	+	2	0	MAGEB1	30179535	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.672000	0.25187	-0.879000	0.04002	-0.312000	0.09012	CGT		0.507	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		A	30269614	G	A	30269614	3	1	146	1	0	0	0	0	1	0	0	0	9172	1145	40	1	1006	1	MAGEB1	23	30269614	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		30269614	125000946	82	10045											
GRIA3	2892	broad.mit.edu	37	chrX	122460032	122460032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgatacttgattgactgcGaagtcgaaaggattaacaca	15	9	10	7	3	0	2	0	2	0	0	1	6	0	3	0	1	4	0	0	1	4	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:122460032G>A	ENST00000371251.1	+	4	716	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	GRIA3_ENST00000264357.5_Missense_Mutation_p.E222K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E222K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E222K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E206K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	222					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GATTGACTGCGAAGTCGAAAG	0.423																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(664-666)Gaa>Aaa		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						129	110	117					X																	122460032		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122460032G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.664G>A	X.37:g.122460032G>A	ENSP00000360297:p.Glu222Lys					GRIA3_uc004etr.4_Missense_Mutation_p.E222K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	p.E222K	NM_007325	NP_015564	P42263	GRIA3_HUMAN			3	956	+			222					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.664G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319588	0.95682	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.66	5.66	0.87406	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.65498	2.005	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.72982	0.922;0.979;0.964	D	0.91009	0.4848	10	0.72032	D	0.01	.	17.5898	0.87992	0.0:0.0:1.0:0.0	.	206;222;222	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	222;222;222;222;206	ENSP00000264357:E222K;ENSP00000446146:E222K;ENSP00000360302:E222K;ENSP00000360297:E222K;ENSP00000446440:E206K	ENSP00000264357:E222K	E	+	1	0	GRIA3	122287713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.370000	0.80446	0.600000	0.82982	GAA		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		A	122460032	G	A	122460032	3	1	146	1	0	0	0	0	1	0	0	0	6769	1059	37	2	678	2	GRIA3	23	122460032	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	92190418	122460032	32810528	83	10046											
MACF1	23499	broad.mit.edu	37	chr1	39761487	39761487	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgtccagtcccagtTgcagtggatgaagcagctgt	7	11	13	10	0	0	1	0	1	0	0	2	2	2	2	2	1	5	6	2	1	1	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:39761487T>G	ENST00000372915.3	+	19	2390	c.2303T>G	c.(2302-2304)tTg>tGg	p.L768W	MACF1_ENST00000361689.2_Missense_Mutation_p.L768W|MACF1_ENST00000564288.1_Missense_Mutation_p.L763W|MACF1_ENST00000539005.1_Missense_Mutation_p.L768W|MACF1_ENST00000317713.7_Missense_Mutation_p.L768W|MACF1_ENST00000545844.1_Missense_Mutation_p.L768W|MACF1_ENST00000567887.1_Missense_Mutation_p.L800W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	768					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCCAGTTGCAGTGGATG	0.433																																						uc021olt.1																			0		p.K768K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2302-2304)tTg>tGg		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							368	305	327					1																	39761487		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39761487T>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2303T>G	1.37:g.39761487T>G	ENSP00000362006:p.Leu768Trp					MACF1_uc021ols.1_Missense_Mutation_p.L768W|MACF1_uc001cdc.2_Missense_Mutation_p.L768W|MACF1_uc001cda.1_Missense_Mutation_p.L676W	p.L768W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		18	2355	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	768					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2303T>G		.	.	.	.	.	.	.	.	.	.	T	7.280	0.608970	0.14066	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.65	4.56	0.56223	.	.	.	.	.	T	0.63367	0.2505	N	0.00010	-3.045	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.73275	-0.4034	9	0.02654	T	1	.	10.8253	0.46629	0.0:0.0:0.4005:0.5995	.	768;733	F8W8Q1;Q9UPN3-3	.;.	W	768;768;768;768;768;726;917;928	ENSP00000439537:L768W;ENSP00000362006:L768W;ENSP00000354573:L768W;ENSP00000313438:L768W;ENSP00000444364:L768W;ENSP00000435070:L726W;ENSP00000437059:L917W	ENSP00000313438:L768W	L	+	2	0	MACF1	39534074	1.000000	0.71417	0.965000	0.40720	0.922000	0.55478	7.271000	0.78506	2.149000	0.67028	0.533000	0.62120	TTG		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39761487	T	G	39761487	3	3	147	1	0	0	0	0	1	0	0	0	9144	1821	63	5	2377	5	MACF1	1	39761487	Missense_Mutation	SNP	T	TCGA-15-1444-01A-02D-1696-08		39761487	209489134	1	10047											
C1orf163	65260	broad.mit.edu	37	chr1	53158443	53158443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgtagcagctatcaCtgtgctggttctcttcacag	7	14	9	11	0	3	0	2	0	1	0	4	0	3	0	1	1	3	6	1	1	2	5			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:53158443C>T	ENST00000371538.3	-	2	242	c.203G>A	c.(202-204)aGt>aAt	p.S68N	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GCAGCTATCACTGTGCTGGTT	0.502																																						uc001cui.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(202-204)aGt>aAt		Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA.							134	132	132					1																	53158443		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53158443C>T																												ENST00000371538.3:c.203G>A	1.37:g.53158443C>T	ENSP00000360593:p.Ser68Asn						p.S68N	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			1	243	-			68						Missense_Mutation	SNP	ENST00000371538.3	37	c.203G>A	CCDS570.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697954	0.48307	.	.	ENSG00000162377	ENST00000371538	T	0.51071	0.72	6.0	5.04	0.67666	Tetratricopeptide-like helical (1);	0.183708	0.64402	D	0.000017	T	0.52500	0.1738	M	0.66939	2.045	0.35171	D	0.771558	B	0.31459	0.324	B	0.36534	0.227	T	0.65047	-0.6263	10	0.59425	D	0.04	-12.4389	16.7532	0.85492	0.0:0.8711:0.1289:0.0	.	68	Q96BR5	SELR1_HUMAN	N	68	ENSP00000360593:S68N	ENSP00000360593:S68N	S	-	2	0	SELRC1	52931031	0.997000	0.39634	0.968000	0.41197	0.376000	0.30014	3.194000	0.51005	2.848000	0.98002	0.655000	0.94253	AGT		0.502	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			T	53158443	C	T	53158443	3	4	147	1	0	0	0	0	1	0	0	0	2011	565	20	3	500	3	C1orf163	1	53158443	Missense_Mutation	SNP	C	TCGA-15-1444-01A-02D-1696-08	13396956	53158443	196092178	2	10048											
PRG4	10216	broad.mit.edu	37	chr1	186277611	186277614	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															acagctaaagacaagacaacAgaaagagacttacgtactac																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:186277611_186277614delAGAA	ENST00000445192.2	+	7	2805_2808	c.2760_2763delAGAA	c.(2758-2763)acagaafs	p.TE920fs	PRG4_ENST00000367484.3_Frame_Shift_Del_p.TE449fs|PRG4_ENST00000367483.4_Frame_Shift_Del_p.TE879fs|PRG4_ENST00000367486.3_Frame_Shift_Del_p.TE877fs|PRG4_ENST00000367485.4_Frame_Shift_Del_p.TE827fs	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	920					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACAAGACAACAGAAAGAGACTTAC	0.412																																						uc001gru.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2758-2763)acagaafs		Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.																																				SO:0001589	frameshift_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277611_186277614delAGAA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2760_2763delAGAA	1.37:g.186277611_186277614delAGAA	ENSP00000399679:p.Thr920fs					MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.2_Non-coding_Transcript	p.T920fs	NM_005807	NP_005798	Q92954	PRG4_HUMAN			6	2811_2814	+			920					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Frame_Shift_Del	DEL	ENST00000445192.2	37	c.2760_2763delAGAA	CCDS1369.1																																																																																				0.412	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		-	186277614	AGAA	-	186277611	7	5	147	1	0	1	0	1	0	0	0	0	12481	175	7	0	2782	0	PRG4	1	186277611	Frame_Shift_Del	DEL	AGAA	TCGA-15-1444-01A-02D-1696-08	133119168	186277611	62973010	3	10049											
ALK	238	broad.mit.edu	37	chr2	29917797	29917797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaggggatgcggcGccaggaccagctctggttcc	5	7	15	14	3	1	0	0	0	1	0	4	3	3	3	4	6	2	2	4	6	0	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:29917797G>A	ENST00000389048.3	-	3	1777	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	291	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGATGCGGCGCCAGGACCAG	0.602			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(871-873)Cgc>Tgc		Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	Adenosine triphosphate(DB00171)						98	96	96					2																	29917797		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917797G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.871C>T	2.37:g.29917797G>A	ENSP00000373700:p.Arg291Cys						p.R291C	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			2	1823	-	Acute lymphoblastic leukemia(172;0.155)		291			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.871C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708085	0.89018	.	.	ENSG00000171094	ENST00000389048	T	0.02280	4.36	5.97	5.97	0.96955	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68432	-0.5410	8	.	.	.	.	15.924	0.79597	0.0:0.0:1.0:0.0	.	291	Q9UM73	ALK_HUMAN	C	291	ENSP00000373700:R291C	.	R	-	1	0	ALK	29771301	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.713000	0.54882	2.828000	0.97474	0.655000	0.94253	CGC		0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		A	29917797	G	A	29917797	3	1	147	1	0	0	0	0	1	0	0	0	525	1087	38	1	4099	1	ALK	2	29917797	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		29917797	213281576	4	10050											
SFTPB	6439	broad.mit.edu	37	chr2	85892915	85892915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatacagatgccgtttgaGtcctggggcacagcacaggg	9	8	14	10	1	0	2	0	1	0	1	1	2	1	2	2	3	4	4	2	3	1	2	rs529554098		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:85892915G>A	ENST00000519937.2	-	5	415	c.396C>T	c.(394-396)gaC>gaT	p.D132D	SFTPB_ENST00000393822.3_Silent_p.D144D|SFTPB_ENST00000409383.1_Silent_p.D144D|SFTPB_ENST00000342375.3_Silent_p.D132D			P07988	PSPB_HUMAN	surfactant protein B	132	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGCCGTTTGAGTCCTGGGGCA	0.642													g|||	1	0.000199681	0	0	5008	,	,		17428	0		0	False		,,,				2504	0.001					uc002sqj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(430-432)gaC>gaT		Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.							38	37	37					2																	85892915		2203	4300	6503	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892915G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.396C>T	2.37:g.85892915G>A						SFTPB_uc002sqi.3_Silent_p.D144D|SFTPB_uc002sqh.3_Silent_p.D144D	p.D144D	NM_000542	NP_942140	P07988	PSPB_HUMAN			5	532	-			132			Saposin B-type 1.		Q96R04	Silent	SNP	ENST00000519937.2	37	c.432C>T		.	.	.	.	.	.	.	.	.	.	g	4.628	0.116760	0.08881	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.74	-0.928	0.10448	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	-3.8911	0.855	0.01180	0.3026:0.1722:0.3695:0.1557	.	.	.	.	F	129	.	.	L	-	1	0	SFTPB	85746426	0.103000	0.21917	0.004000	0.12327	0.040000	0.13550	0.376000	0.20535	0.072000	0.16694	-0.265000	0.10407	CTC		0.642	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		A	85892915	G	A	85892915	2	1	147	1	0	0	0	0	0	0	0	1	14191	1020	36	3		3	SFTPB	2	85892915	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	55975118	85892915	157306458	5	10051											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	640	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			C	209113113	G	C	209113113	3	2	147	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08	123220198	209113113	34086260	6	10052											
DNAJC13	23317	broad.mit.edu	37	chr3	132198097	132198097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gataaacttgaacgagatagGttgattctcttccttaacaa	14	13	7	7	1	1	3	0	2	1	1	3	5	2	3	1	1	3	1	1	1	6	7	rs61748099	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr3:132198097G>A	ENST00000260818.6	+	25	2984	c.2736G>A	c.(2734-2736)agG>agA	p.R912R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	912					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACGAGATAGGTTGATTCTCT	0.294																																						uc003eor.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2734-2736)agG>agA		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.		G		7,4399	11.4+/-27.6	0,7,2196	120	106	111		2736	-1.2	0.9	3	dbSNP_129	111	25,8569	19.2+/-60.6	0,25,4272	no	coding-synonymous	DNAJC13	NM_015268.3		0,32,6468	AA,AG,GG		0.2909,0.1589,0.2462		912/2244	132198097	32,12968	2203	4297	6500	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132198097G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2736G>A	3.37:g.132198097G>A							p.R912R	NM_015268	NP_056083	O75165	DJC13_HUMAN			24	2801	+			912					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.2736G>A	CCDS33857.1																																																																																				0.294	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		A	132198097	G	A	132198097	2	1	147	1	0	0	0	0	0	0	0	1	4632	1252	44	3		3	DNAJC13	3	132198097	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08		132198097	65824333	7	10053											
WDR1	9948	broad.mit.edu	37	chr4	10080542	10080542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgccaccgtgtccccGccggggtgcactgccacaac	7	6	10	18	3	0	0	0	0	0	0	1	0	1	0	7	2	4	1	7	2	2	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:10080542G>A	ENST00000499869.2	-	12	1561	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	WDR1_ENST00000502702.1_Silent_p.G316G|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382452.2_Silent_p.G456G|WDR1_ENST00000382451.2_Silent_p.G316G|MIR3138_ENST00000585238.1_RNA			O75083	WDR1_HUMAN	WD repeat domain 1	456					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGTGTCCCCGCCGGGGTGCA	0.592																																						uc021xlv.1																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1366-1368)ggC>ggT		Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.							74	90	85					4																	10080542		2000	4163	6163	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080542G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1368C>T	4.37:g.10080542G>A						WDR1_uc021xlw.1_Silent_p.G316G|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank	p.G456G	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	11	1651	-			456					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1368C>T	CCDS54740.1																																																																																				0.592	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			A	10080542	G	A	10080542	2	1	147	1	0	0	0	0	0	0	0	1	17269	1074	38	1		1	WDR1	4	10080542	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08		10080542	181073734	8	10054											
FRYL	285527	broad.mit.edu	37	chr4	48621289	48621289	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaaataaaagagcttAcctgctttagaacttcaact	15	12	6	8	0	1	3	1	0	0	3	1	3	1	3	1	0	6	3	1	0	7	6			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:48621289A>G	ENST00000503238.1	-	4	411		c.e4+1		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507711.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAAGAGCTTACCTGCTTTAG	0.363																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e7+1		Homo sapiens FRY-like (FRYL), mRNA.							136	126	129					4																	48621289		1831	4092	5923	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48621289A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.411+1T>C	4.37:g.48621289A>G						FRYL_uc003gyk.3_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A	p.Q137_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			7	1016	-			137					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.411_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812220	0.90707	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48316046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	.		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	G	48621289	A	G	48621289	5	3	147	1	0	0	0	0	0	0	1	0	6064	405	14	4	8860	4	FRYL	4	48621289	Splice_Site	SNP	A	TCGA-15-1444-01A-02D-1696-08	38540747	48621289	142532987	9	10055											
NFKB1	4790	broad.mit.edu	37	chr4	103518775	103518775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaagatgctgctggccGtccagcgccatctcactgct	7	9	11	14	3	1	2	1	1	1	1	3	2	2	2	3	1	4	3	3	1	1	0	rs139575566	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:103518775G>A	ENST00000505458.1	+	15	1868	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	NFKB1_ENST00000600343.1_Missense_Mutation_p.V351I|NFKB1_ENST00000394820.4_Missense_Mutation_p.V531I|NFKB1_ENST00000226574.4_Missense_Mutation_p.V532I			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	531	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V532I(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTGCTGGCCGTCCAGCGCCA	0.522													G|||	2	0.000399361	0	0	5008	,	,		21806	0.001		0.001	False		,,,				2504	0					uc011ceq.2																			1	Substitution - Missense(1)	p.V532I(1)	breast(1)	biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1591-1593)Gtc>Atc		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	115	102	107		1591,1594	4.6	1	4	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	531/969,532/970	103518775	1,13005	2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103518775G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1591G>A	4.37:g.103518775G>A	ENSP00000424790:p.Val531Ile					NFKB1_uc011cep.2_Missense_Mutation_p.V532I|NFKB1_uc011cer.2_Missense_Mutation_p.V351I	p.V531I	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	14	2058	+		Hepatocellular(203;0.217)	531			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.1591G>A	CCDS54783.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	15.05	2.717020	0.48622	0.0	1.16E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.63913	-0.07;-0.07;-0.07	4.64	4.64	0.57946	Ankyrin repeat-containing domain (1);	0.252545	0.32687	N	0.005763	T	0.69052	0.3068	M	0.63428	1.95	0.35903	D	0.830515	D;P;D	0.65815	0.966;0.922;0.995	B;B;P	0.52710	0.312;0.266;0.707	T	0.72571	-0.4253	10	0.23302	T	0.38	.	17.7248	0.88362	0.0:0.0:1.0:0.0	.	351;531;532	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	I	532;531;531	ENSP00000226574:V532I;ENSP00000378297:V531I;ENSP00000424790:V531I	ENSP00000226574:V532I	V	+	1	0	NFKB1	103737813	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	3.529000	0.53532	2.419000	0.82065	0.655000	0.94253	GTC		0.522	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			A	103518775	G	A	103518775	3	1	147	1	0	0	0	0	1	0	0	0	10375	1145	40	1	1648	1	NFKB1	4	103518775	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08	54897486	103518775	87635501	10	10056											
PIK3R1	5295	broad.mit.edu	37	chr5	67591098	67591109	+	In_Frame_Del	DEL	ACAGCATTAAAC	ACAGCATTAAAC	-																															agaaattgacaaacgtatgaAcagcattaaaccagacctta																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr5:67591098_67591109delACAGCATTAAAC	ENST00000521381.1	+	13	2307_2318	c.1691_1702delACAGCATTAAAC	c.(1690-1704)aacagcattaaacca>aca	p.564_568NSIKP>T	PIK3R1_ENST00000396611.1_In_Frame_Del_p.564_568NSIKP>T|PIK3R1_ENST00000523872.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_ENST00000320694.8_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_ENST00000336483.5_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_ENST00000521657.1_In_Frame_Del_p.564_568NSIKP>T|PIK3R1_ENST00000274335.5_In_Frame_Del_p.564_568NSIKP>T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N564K(2)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.D560_S565del(1)|p.K567_L570delKPDL(1)|p.K567E(1)|p.K267E(1)|p.K297_L300delKPDL(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAACGTATGAACAGCATTAAACCAGACCTTAT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		13	Substitution - Missense(7)|Deletion - In frame(4)|Whole gene deletion(1)|Unknown(1)	p.N564D(4)|p.N564K(4)|p.K567E(3)|p.D560_S565del(2)|p.K567_L570delKPDL(2)|p.R562_M563ins13(1)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.K267E(1)|p.K297_L300delKPDL(1)|p.N564fs*?(1)	endometrium(6)|breast(3)|central_nervous_system(2)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1690-1704)aacagcattaaacca>aca		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591098_67591109delACAGCATTAAAC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1691_1702delACAGCATTAAAC	5.37:g.67591098_67591109delACAGCATTAAAC	ENSP00000428056:p.Asn564_Pro568delinsThr	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.3_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.3_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc021xzn.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_uc011crb.2_In_Frame_Del_p.234_238NSIKP>T	p.564_568NSIKP>T	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2271_2282	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	564					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1691_1702delACAGCATTAAAC	CCDS3993.1																																																																																				0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67591109	ACAGCATTAAAC	-	67591098	7	5	147	1	0	1	0	1	0	0	0	0	11918	43	2	0	1867	0	PIK3R1	5	67591098	In_Frame_Del	DEL	ACAGCATTAAAC	TCGA-15-1444-01A-02D-1696-08		67591098	113324162	11	10057											
GRINA	2907	broad.mit.edu	37	chr8	145065758	145065758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaggtcttcccaggaCaagaccctgactgtgagtct	10	8	10	13	0	2	3	0	2	2	1	3	4	3	4	3	2	1	0	3	2	1	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr8:145065758C>G	ENST00000313269.5	+	2	645	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	GRINA_ENST00000395068.4_Missense_Mutation_p.Q123E	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	123	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGGACAAGACCCTGA	0.672																																						uc003zan.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(367-369)Caa>Gaa		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.							17	21	20					8																	145065758		2073	4226	6299	SO:0001583	missense	2907					integral to membrane		g.chr8:145065758C>G	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.367C>G	8.37:g.145065758C>G	ENSP00000314380:p.Gln123Glu					GRINA_uc003zao.1_Missense_Mutation_p.Q123E|GRINA_uc003zap.1_Missense_Mutation_p.Q123E	p.Q123E	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	533	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		123			Pro-rich.		B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.367C>G	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.915|9.915	1.210526|1.210526	0.22289|0.22289	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637|ENST00000534791;ENST00000533044	T;T;T|.	0.22336|.	1.98;1.96;1.98|.	4.33|4.33	3.41|3.41	0.39046|0.39046	.|.	3.431410|.	0.00794|.	N|.	0.001373|.	T|T	0.29882|0.29882	0.0747|0.0747	N|N	0.17723|0.17723	0.515|0.515	0.24248|0.24248	N|N	0.995337|0.995337	B|.	0.16166|.	0.016|.	B|.	0.18871|.	0.023|.	T|T	0.18777|0.18777	-1.0326|-1.0326	10|5	0.21540|.	T|.	0.41|.	-0.6188|-0.6188	9.7977|9.7977	0.40744|0.40744	0.2067:0.7933:0.0:0.0|0.2067:0.7933:0.0:0.0	.|.	123|.	Q7Z429|.	GRINA_HUMAN|.	E|R	123;123;123;104|46;12	ENSP00000314380:Q123E;ENSP00000432706:Q123E;ENSP00000378507:Q123E|.	ENSP00000314380:Q123E|.	Q|T	+|+	1|2	0|0	GRINA|GRINA	145137746|145137746	0.821000|0.821000	0.29204|0.29204	0.094000|0.094000	0.20943|0.20943	0.476000|0.476000	0.33039|0.33039	2.398000|2.398000	0.44486|0.44486	1.075000|1.075000	0.40932|0.40932	0.585000|0.585000	0.79938|0.79938	CAA|ACA		0.672	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		G	145065758	C	G	145065758	3	3	147	1	0	0	0	0	1	0	0	0	6785	479	17	5	369	5	GRINA	8	145065758	Missense_Mutation	SNP	C	TCGA-15-1444-01A-02D-1696-08		145065758	1298264	12	10058											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																								rs387906562|rs369807922		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													uc003zkv.4																			2	Deletion - Frameshift(2)	p.N353fs*31(4)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acaaacfs		Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs						p.T352fs	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	4	1232_1235	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		-	12702414	ACAA	-	12702411	7	5	147	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-15-1444-01A-02D-1696-08		12702411	128511020	13	10059											
ITIH2	3698	broad.mit.edu	37	chr10	7771922	7771922	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccaactttaggcgaactAaaactgtcaaaaattcagaa	18	9	5	9	1	3	1	3	0	0	1	3	2	3	1	1	1	3	0	1	1	8	4			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr10:7771922A>T	ENST00000358415.4	+	12	1453	c.1287A>T	c.(1285-1287)ctA>ctT	p.L429L	ITIH2_ENST00000379587.4_Silent_p.L418L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	429	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGGCGAACTAAAACTGTCAA	0.373																																						uc001ijs.3																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1285-1287)ctA>ctT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.							86	80	82					10																	7771922		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7771922A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1287A>T	10.37:g.7771922A>T							p.L429L	NM_002216	NP_002207	P19823	ITIH2_HUMAN			11	1449	+			429			VWFA.		Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1287A>T	CCDS31141.1																																																																																				0.373	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7771922	A	T	7771922	2	4	147	1	0	0	0	0	0	0	0	1	7904	349	13	5		5	ITIH2	10	7771922	Silent	SNP	A	TCGA-15-1444-01A-02D-1696-08		7771922	127762825	14	10060											
CLPB	81570	broad.mit.edu	37	chr11	72012979	72012979	+	Frame_Shift_Del	DEL	G	G	-																															ccctcctcatggccaacgtaGcctggtggagacccaataaa																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:72012979delG	ENST00000294053.3	-	12	1460	c.1287delC	c.(1285-1287)ggcfs	p.G429fs	CLPB_ENST00000538021.1_Frame_Shift_Del_p.G37fs|CLPB_ENST00000538039.1_Frame_Shift_Del_p.G399fs|CLPB_ENST00000437826.2_Frame_Shift_Del_p.G384fs|CLPB_ENST00000340729.5_Frame_Shift_Del_p.G370fs|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000543042.1_Frame_Shift_Del_p.G228fs	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	429					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGCCAACGTAGCCTGGTGGAG	0.522																																						uc001osj.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1285-1287)ggcfs		Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.							129	110	116					11																	72012979		2200	4293	6493	SO:0001589	frameshift_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72012979delG	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1287delC	11.37:g.72012979delG	ENSP00000294053:p.Gly429fs					CLPB_uc010rqx.2_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.2_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.3_Frame_Shift_Del_p.G399fs|CLPB_uc010rqz.2_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.3_Frame_Shift_Del_p.G37fs	p.G429fs	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			11	1337	-			429					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Frame_Shift_Del	DEL	ENST00000294053.3	37	c.1287delC	CCDS8215.1																																																																																				0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		-	72012979	G	-	72012979	7	5	147	1	0	1	0	1	0	0	0	0	3551	958	34	0	860	0	CLPB	11	72012979	Frame_Shift_Del	DEL	G	TCGA-15-1444-01A-02D-1696-08		72012979	62993537	15	10061											
HEPHL1	341208	broad.mit.edu	37	chr11	93844970	93844970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttctaatcaccacGgtgattctctccctcagact	7	13	4	17	1	4	2	2	1	2	1	8	2	7	2	4	1	0	0	4	1	1	3	rs118037969	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:93844970G>A	ENST00000315765.9	+	20	3398	c.3390G>A	c.(3388-3390)acG>acA	p.T1130T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1130					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.T1134T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAATCACCACGGTGATTCTCT	0.507													G|||	9	0.00179712	8e-04	0.0043	5008	,	,		19650	0		0.005	False		,,,				2504	0					uc001pep.2																			1	Substitution - coding silent(1)	p.L1130P(1)|p.T1134T(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(3388-3390)acG>acA		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.		G		6,3936		0,6,1965	138	136	137		3390	-10.9	0	11	dbSNP_132	137	74,8256		0,74,4091	no	coding-synonymous	HEPHL1	NM_001098672.1		0,80,6056	AA,AG,GG		0.8884,0.1522,0.6519		1130/1160	93844970	80,12192	1971	4165	6136	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93844970G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3390G>A	11.37:g.93844970G>A						AF086184_uc001pen.1_Intron	p.T1130T	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			19	3547	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1130					Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.3390G>A	CCDS44710.1																																																																																				0.507	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93844970	G	A	93844970	2	1	147	1	0	0	0	0	0	0	0	1	7055	1103	39	2		2	HEPHL1	11	93844970	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	21831991	93844970	41161546	16	10062											
AMN1	196394	broad.mit.edu	37	chr12	31850308	31850308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattacctctaatttcttcGcacaaggtccactaacaagt	14	12	4	11	1	2	0	0	0	2	0	4	0	3	0	2	1	2	1	2	1	6	5			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:31850308G>A	ENST00000281471.6	-	5	743	c.578C>T	c.(577-579)gCg>gTg	p.A193V	AMN1_ENST00000537562.1_Missense_Mutation_p.A175V|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.A175V	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	193										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TAATTTCTTCGCACAAGGTCC	0.338																																						uc001rkq.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7						c.(577-579)gCg>gTg		Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.							106	95	98					12																	31850308		1821	4092	5913	SO:0001583	missense	196394							g.chr12:31850308G>A		CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.578C>T	12.37:g.31850308G>A	ENSP00000281471:p.Ala193Val					AMN1_uc001rko.4_Missense_Mutation_p.A175V|AMN1_uc010skc.2_Missense_Mutation_p.A175V|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	p.A193V	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		4	744	-	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		193					B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	c.578C>T	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359078	0.61403	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408	T;T;T;T	0.17370	2.28;2.28;2.28;4.3	5.9	5.9	0.94986	.	0.148158	0.45606	D	0.000346	T	0.12347	0.0300	L	0.36672	1.1	0.80722	D	1	P	0.36483	0.555	B	0.24541	0.054	T	0.13176	-1.0519	10	0.18710	T	0.47	.	15.779	0.78246	0.0:0.0:1.0:0.0	.	193	Q8IY45	AMN1_HUMAN	V	193;175;175;175	ENSP00000281471:A193V;ENSP00000441419:A175V;ENSP00000440967:A175V;ENSP00000438990:A175V	ENSP00000281471:A193V	A	-	2	0	AMN1	31741575	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.565000	0.53798	2.788000	0.95919	0.650000	0.86243	GCG		0.338	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2	NR_004854		A	31850308	G	A	31850308	3	1	147	1	0	0	0	0	1	0	0	0	581	1087	38	1	210	1	AMN1	12	31850308	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		31850308	102001587	17	10063											
MARCH9	92979	broad.mit.edu	37	chr12	58152585	58152585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctcagcgctgcggttatAcaatcttgcacctccttggg	6	12	10	13	2	2	0	1	0	1	0	3	0	3	0	3	2	5	3	3	2	3	4			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:58152585A>G	ENST00000266643.5	+	4	1377	c.946A>G	c.(946-948)Aca>Gca	p.T316A	MARCH9_ENST00000548358.1_Missense_Mutation_p.T203A	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	316					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGCGGTTATACAATCTTGCA	0.652																																						uc001spx.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(946-948)Aca>Gca		Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.							29	29	29					12																	58152585		2202	4300	6502	SO:0001583	missense	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152585A>G	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.946A>G	12.37:g.58152585A>G	ENSP00000266643:p.Thr316Ala					MARCH9_uc001spy.3_Missense_Mutation_p.T203A	p.T316A	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	1377	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		316					B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	c.946A>G	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714244	0.68730	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.34275	2.26;1.37	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.68317	2.08	0.54753	D	0.999987	D;P	0.71674	0.998;0.881	D;P	0.87578	0.998;0.527	T	0.58999	-0.7536	10	0.51188	T	0.08	.	14.8138	0.70017	1.0:0.0:0.0:0.0	.	203;316	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	A	316;203	ENSP00000266643:T316A;ENSP00000446758:T203A	ENSP00000266643:T316A	T	+	1	0	MARCH9	56438852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.510000	0.90532	2.330000	0.79161	0.533000	0.62120	ACA		0.652	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		G	58152585	A	G	58152585	3	3	147	1	0	0	0	0	1	0	0	0	9308	391	14	4	960	4	MARCH9	12	58152585	Missense_Mutation	SNP	A	TCGA-15-1444-01A-02D-1696-08	26302277	58152585	75699310	18	10064											
PMFBP1	83449	broad.mit.edu	37	chr16	72184633	72184633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctctctagagaggcgatCttgtccccggccaaggcgag	7	8	12	14	3	2	1	0	0	2	1	5	4	4	1	4	3	0	0	4	3	2	2			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr16:72184633C>T	ENST00000237353.10	-	5	771	c.510G>A	c.(508-510)aaG>aaA	p.K170K	PMFBP1_ENST00000355636.6_Silent_p.K25K|PMFBP1_ENST00000537465.1_Silent_p.K170K	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	170						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGAGGCGATCTTGTCCCCGG	0.498																																						uc002fcc.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(508-510)aaG>aaA		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							121	113	116					16																	72184633		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72184633C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.510G>A	16.37:g.72184633C>T						PMFBP1_uc002fcd.3_Silent_p.K170K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K25K	p.K170K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	682	-		Ovarian(137;0.179)	170					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.510G>A	CCDS32483.1																																																																																				0.498	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		T	72184633	C	T	72184633	2	4	147	1	0	0	0	0	0	0	0	1	12134	912	32	3		3	PMFBP1	16	72184633	Silent	SNP	C	TCGA-15-1444-01A-02D-1696-08		72184633	18170120	19	10065											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	147	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		7577539	73617671	20	10066											
BRIP1	83990	broad.mit.edu	37	chr17	59876469	59876469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcttcttacttaatgagGctacagcacacagctcgtag	13	11	7	10	1	2	1	0	1	2	0	3	1	2	1	0	1	4	4	0	1	5	5	rs200581792		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:59876469G>A	ENST00000259008.2	-	9	1599	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	BRIP1_ENST00000577598.1_Silent_p.S444S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	444					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTAATGAGGCTACAGCACA	0.358			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					G|||	1	0.000199681	0	0	5008	,	,		17568	0		0.001	False		,,,				2504	0					uc002izk.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1330-1332)agC>agT	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.							135	131	133					17																	59876469		2203	4300	6503	SO:0001819	synonymous_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59876469G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1332C>T	17.37:g.59876469G>A							p.S444S	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			8	1638	-			444					Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.1332C>T	CCDS11631.1																																																																																				0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		A	59876469	G	A	59876469	2	1	147	1	0	0	0	0	0	0	0	1	1514	1194	42	3		3	BRIP1	17	59876469	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	52298930	59876469	21318741	21	10067											
COLEC12	81035	broad.mit.edu	37	chr18	334801	334801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggggcaccaccgctcctGatgggccaggagggccgggg	6	3	18	14	2	0	1	0	1	0	0	1	2	1	2	6	7	0	2	6	7	0	0			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr18:334801G>A	ENST00000400256.3	-	6	1964	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	586	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACCGCTCCTGATGGGCCAGG	0.701																																						uc002kkm.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1756-1758)tCa>tTa		Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.							25	24	25					18																	334801		2203	4299	6502	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:334801G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1757C>T	18.37:g.334801G>A	ENSP00000383115:p.Ser586Leu						p.S586L	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1972	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	586			Collagen-like 3.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1757C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221175	0.39201	.	.	ENSG00000158270	ENST00000400256	D	0.93133	-3.17	5.26	4.38	0.52667	.	0.695945	0.13908	N	0.354441	D	0.87716	0.6247	N	0.25332	0.735	0.19300	N	0.999977	B	0.16396	0.017	B	0.20184	0.028	T	0.77742	-0.2474	10	0.38643	T	0.18	-0.7109	8.8654	0.35282	0.0748:0.0:0.7753:0.1499	.	586	Q5KU26	COL12_HUMAN	L	586	ENSP00000383115:S586L	ENSP00000383115:S586L	S	-	2	0	COLEC12	324801	1.000000	0.71417	0.030000	0.17652	0.137000	0.21094	4.553000	0.60753	1.192000	0.43071	0.462000	0.41574	TCA		0.701	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			A	334801	G	A	334801	3	1	147	1	0	0	0	0	1	0	0	0	3712	1294	45	3	491	3	COLEC12	18	334801	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		334801	77742447	22	10068											
ATRX	546	broad.mit.edu	37	chrX	76814207	76814208	+	Frame_Shift_Del	DEL	TG	TG	-																															gataaactctgaatatactcTggatgtcataagatggattc																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chrX:76814207_76814208delTG	ENST00000373344.5	-	29	6650_6651	c.6436_6437delCA	c.(6436-6438)cagfs	p.Q2146fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q2108fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2146	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAATATACTCTGGATGTCATAA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6436-6438)cagfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814207_76814208delTG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6436_6437delCA	X.37:g.76814207_76814208delTG	ENSP00000362441:p.Gln2146fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.Q2108fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1931fs	p.Q2146fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			28	6668_6669	-			2146			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6436_6437delCA	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76814208	TG	-	76814207	7	5	147	1	0	1	0	1	0	0	0	0	1208	1580	55	0	1069	0	ATRX	23	76814207	Frame_Shift_Del	DEL	TG	TCGA-15-1444-01A-02D-1696-08		76814207	78456353	23	10069											
SERINC2	347735	broad.mit.edu	37	chr1	31905860	31905860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacagcctgatgcagaccGaggagtgcccacctatgcta	11	7	11	12	1	0	3	0	2	0	1	0	5	0	4	4	1	5	2	4	1	3	2	rs139208281	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:31905860G>A	ENST00000373709.3	+	9	1210	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	SERINC2_ENST00000536384.1_Missense_Mutation_p.E358K|SERINC2_ENST00000536859.1_Missense_Mutation_p.E358K|SERINC2_ENST00000373710.1_Missense_Mutation_p.E363K|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	354					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GATGCAGACCGAGGAGTGCCC	0.617													G|||	4	0.000798722	0.0023	0	5008	,	,		17603	0.001		0	False		,,,				2504	0					uc021okm.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(1087-1089)Gag>Aag		Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	4,4402	6.2+/-15.9	0,4,2199	43	37	39		1072,1087,895,1072,1060	4.4	0.9	1	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	56,56,56,56,56	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	358/460,363/465,299/401,358/460,354/456	31905860	6,13000	2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31905860G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1060G>A	1.37:g.31905860G>A	ENSP00000362813:p.Glu354Lys					SERINC2_uc010ogg.2_Missense_Mutation_p.E358K|SERINC2_uc001bst.3_Missense_Mutation_p.E354K|SERINC2_uc001bsu.3_Missense_Mutation_p.E299K|SERINC2_uc010ogh.2_Missense_Mutation_p.E358K	p.E363K	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	9	1360	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	354					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.1087G>A	CCDS30662.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.93	2.680963	0.47886	9.08E-4	2.33E-4	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.36	4.36	0.52297	.	0.079058	0.48286	N	0.000198	T	0.33498	0.0865	M	0.83118	2.625	0.51012	D	0.999903	P;D;D	0.57571	0.801;0.978;0.98	B;P;P	0.60415	0.36;0.821;0.874	T	0.29427	-1.0012	10	0.11794	T	0.64	-24.5245	15.793	0.78380	0.0:0.0:1.0:0.0	.	358;363;354	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	K	363;358;354;358	ENSP00000362814:E363K;ENSP00000444307:E358K;ENSP00000362813:E354K;ENSP00000439048:E358K	ENSP00000362813:E354K	E	+	1	0	SERINC2	31678447	1.000000	0.71417	0.907000	0.35723	0.553000	0.35397	5.583000	0.67484	2.246000	0.74042	0.596000	0.82720	GAG		0.617	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		A	31905860	G	A	31905860	3	1	148	1	0	0	0	0	1	0	0	0	14080	1059	37	2	1094	2	SERINC2	1	31905860	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		31905860	217344761	1	10070											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948876	37948876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccttctctgcctttggCcgggccatgggtgctggcca	3	10	14	14	1	1	0	0	0	1	0	2	0	1	0	5	4	3	2	5	4	0	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662																																						uc001cbb.4																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1462-1464)ggC>ggT		Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.							62	72	68					1																	37948876		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948876C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1464C>T	1.37:g.37948876C>T						ZC3H12A_uc001cbc.1_Silent_p.G283G	p.G488G	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			5	1614	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	488			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1464C>T	CCDS417.1																																																																																				0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		T	37948876	C	T	37948876	2	4	148	1	0	0	0	0	0	0	0	1	17558	726	26	3		3	ZC3H12A	1	37948876	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	6043016	37948876	211301745	2	10071											
MFSD2A	84879	broad.mit.edu	37	chr1	40432533	40432533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctacttccggggcctaCggctggtcatgagccacggc	5	8	13	15	4	1	1	1	1	0	0	3	1	2	1	4	5	3	1	4	5	2	3	rs373419262		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:40432533C>T	ENST00000372809.5	+	8	1038	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MFSD2A_ENST00000420632.2_Missense_Mutation_p.R130W|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R286W	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	299					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGGGGCCTACGGCTGGTCAT	0.572																																						uc001cev.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(895-897)Cgg>Tgg		Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	102	100	101		895,856	4.7	1	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MFSD2A	NM_001136493.1,NM_032793.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	299/544,286/531	40432533	1,13005	2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432533C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.895C>T	1.37:g.40432533C>T	ENSP00000361895:p.Arg299Trp					MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.3_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.2_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.3_Non-coding_Transcript	p.R299W	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			7	1076	+			299					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.895C>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827873	0.32329	0.0	1.16E-4	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.88354	-2.37;-2.37;-2.37	5.64	4.67	0.58626	Major facilitator superfamily domain, general substrate transporter (1);	0.581139	0.18944	N	0.126845	D	0.86297	0.5899	L	0.53249	1.67	0.37438	D	0.914316	B;B;B	0.29432	0.103;0.244;0.103	B;B;B	0.30572	0.027;0.117;0.037	D	0.87220	0.2253	10	0.87932	D	0	-26.4588	11.9424	0.52909	0.2987:0.7013:0.0:0.0	.	247;299;286	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	W	286;130;299	ENSP00000361898:R286W;ENSP00000391261:R130W;ENSP00000361895:R299W	ENSP00000361895:R299W	R	+	1	2	MFSD2A	40205120	0.988000	0.35896	1.000000	0.80357	0.784000	0.44337	1.449000	0.35123	2.816000	0.96949	0.563000	0.77884	CGG		0.572	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		T	40432533	C	T	40432533	3	4	148	1	0	0	0	0	1	0	0	0	9530	527	19	1	925	1	MFSD2A	1	40432533	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	2483657	40432533	208818088	3	10072											
FAM151A	338094	broad.mit.edu	37	chr1	55078368	55078368	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttgggatacttctcctgGaccagggccaggaacctgca	8	8	12	13	0	1	0	0	0	1	0	2	3	1	3	5	4	3	1	5	4	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:55078368G>T	ENST00000302250.2	-	5	751	c.591C>A	c.(589-591)gtC>gtA	p.V197V	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.V197V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	197						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGACCAGGGCCA	0.562																																						uc001cxn.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(589-591)gtC>gtA		Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.							72	62	66					1																	55078368		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55078368G>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.591C>A	1.37:g.55078368G>T						ACOT11_uc001cxm.2_Intron	p.V197V	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			4	723	-			197					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.591C>A	CCDS594.1																																																																																				0.562	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		T	55078368	G	T	55078368	2	4	148	1	0	0	0	0	0	0	0	1	5458	1161	41	5		5	FAM151A	1	55078368	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	14645835	55078368	194172253	4	10073											
TM2D1	83941	broad.mit.edu	37	chr1	62190705	62190705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagccccccagggtcctgTagtgactgagacgaaccaca	12	5	10	14	1	0	2	0	2	0	1	1	4	1	2	5	1	3	1	5	1	3	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:62190705T>A	ENST00000606498.1	-	1	108	c.88A>T	c.(88-90)Aca>Tca	p.T30S	TM2D1_ENST00000294613.5_Missense_Mutation_p.T30S|TM2D1_ENST00000371177.2_Missense_Mutation_p.T30S|TM2D1_ENST00000371180.2_Missense_Mutation_p.T92S			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	30					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CAGGGTCCTGTAGTGACTGAG	0.647																																						uc001czz.1																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(88-90)Aca>Tca		Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.							35	42	40					1																	62190705		1900	4100	6000	SO:0001583	missense	83941				apoptosis			g.chr1:62190705T>A	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.88A>T	1.37:g.62190705T>A	ENSP00000475700:p.Thr30Ser						p.T30S	NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			0	391	-			30					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.88A>T		.	.	.	.	.	.	.	.	.	.	T	17.09	3.301639	0.60195	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.57	-2.13	0.07144	.	0.809062	0.10820	N	0.630610	T	0.15912	0.0383	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30208	-0.9986	9	0.08179	T	0.78	-18.9126	0.8903	0.01252	0.1672:0.3098:0.1719:0.3511	.	30	Q9BX74	TM2D1_HUMAN	S	92;30;30;30	.	ENSP00000294613:T30S	T	-	1	0	TM2D1	61963293	0.158000	0.22850	0.004000	0.12327	0.674000	0.39518	-0.526000	0.06207	-0.240000	0.09696	0.379000	0.24179	ACA		0.647	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		A	62190705	T	A	62190705	3	1	148	1	0	0	0	0	1	0	0	0	15960	1638	57	5	559	5	TM2D1	1	62190705	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	7112337	62190705	187059916	5	10074											
HRNR	388697	broad.mit.edu	37	chr1	152193139	152193139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagacccgtgttggccGtggctggaggagtgccccga	6	6	17	12	3	0	1	0	0	0	1	0	5	0	3	5	4	2	2	5	4	0	1	rs373322403		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:152193139G>A	ENST00000368801.2	-	3	1041	c.966C>T	c.(964-966)caC>caT	p.H322H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	322					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGGCCGTGGCTGGAGG	0.607																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(964-966)caC>caT		Homo sapiens hornerin (HRNR), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	78	87	84		966	-7.3	0	1		84	0,8600		0,0,4300	no	coding-synonymous	HRNR	NM_001009931.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		322/2851	152193139	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193139G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.966C>T	1.37:g.152193139G>A							p.H322H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1042	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		322					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.966C>T	CCDS30859.1																																																																																				0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152193139	G	A	152193139	2	1	148	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152193139	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	90002434	152193139	97057482	6	10075											
YY1AP1	55249	broad.mit.edu	37	chr1	155629971	155629971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggccacagccgcattgAcaggctggatcatgttacag	9	9	12	11	1	2	1	1	1	1	0	2	2	2	2	2	3	2	3	2	3	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:155629971A>T	ENST00000295566.4	-	11	1891	c.1868T>A	c.(1867-1869)gTc>gAc	p.V623D	YY1AP1_ENST00000361831.5_Missense_Mutation_p.V566D|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V546D|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V577D|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V546D|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V577D|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V557D|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V423D|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V715D|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V577D|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V695D|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V566D	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	623					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGCCGCATTGACAGGCTGGAT	0.557																																						uc010pgi.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2143-2145)gTc>gAc		Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.							87	81	83					1																	155629971		2203	4298	6501	SO:0001583	missense	55249				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155629971A>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1868T>A	1.37:g.155629971A>T	ENSP00000295566:p.Val623Asp					GON4L_uc021paz.1_Missense_Mutation_p.V557D|GON4L_uc010pgg.2_Missense_Mutation_p.V462D|GON4L_uc010pgh.2_Missense_Mutation_p.V566D|GON4L_uc009wqt.3_Missense_Mutation_p.V546D|GON4L_uc001flh.3_Missense_Mutation_p.V695D|GON4L_uc001fll.3_Missense_Mutation_p.V577D|GON4L_uc001flk.3_Missense_Mutation_p.V566D|GON4L_uc001flm.3_Missense_Mutation_p.V566D|GON4L_uc009wqu.3_Missense_Mutation_p.V410D|GON4L_uc009wqv.3_Missense_Mutation_p.V294D|GON4L_uc009wqw.3_Missense_Mutation_p.V546D|GON4L_uc001flj.3_Missense_Mutation_p.V557D|GON4L_uc001fli.3_Missense_Mutation_p.V577D|GON4L_uc001flo.3_Missense_Mutation_p.V511D|GON4L_uc001fln.3_Missense_Mutation_p.V623D|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.V577D	p.V715D	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN			9	2336	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1167					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2144T>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	14.78	2.638719	0.47153	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.56;1.56;1.57;1.56;1.56;1.51;1.54;1.56;1.57;1.57;1.49;1.57	2.53	2.53	0.30540	.	0.193192	0.36066	N	0.002818	T	0.30885	0.0779	L	0.54323	1.7	0.28091	N	0.931783	D;D;D;D;D	0.89917	0.963;1.0;0.96;0.999;0.999	P;D;D;D;D	0.87578	0.775;0.998;0.917;0.958;0.929	T	0.03423	-1.1038	10	0.87932	D	0	.	6.6695	0.23060	0.8745:0.0:0.1255:0.0	.	715;557;623;577;695	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	D	566;577;546;577;566;695;623;577;546;557;715;423	ENSP00000352134:V566D;ENSP00000347686:V577D;ENSP00000311138:V546D;ENSP00000316079:V577D;ENSP00000355298:V566D;ENSP00000357324:V695D;ENSP00000295566:V623D;ENSP00000357314:V577D;ENSP00000385791:V546D;ENSP00000385390:V557D;ENSP00000357323:V715D;ENSP00000437926:V423D	ENSP00000295566:V623D	V	-	2	0	YY1AP1	153896595	0.833000	0.29383	0.968000	0.41197	0.963000	0.63663	3.390000	0.52523	1.165000	0.42670	0.254000	0.18369	GTC		0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		T	155629971	A	T	155629971	3	4	148	1	0	0	0	0	1	0	0	0	17505	275	10	5	526	5	YY1AP1	1	155629971	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	3436832	155629971	93620650	7	10076											
OLFML2B	25903	broad.mit.edu	37	chr1	161987297	161987297	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtctatgattgtggagaGctatgaaacaaggcaagggg	13	9	14	5	0	1	3	0	2	1	1	1	4	1	3	0	4	2	2	0	4	5	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:161987297G>A	ENST00000294794.3	-	3	862	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	OLFML2B_ENST00000367940.2_Splice_Site_p.L147F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	147					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATTGTGGAGAGCTATGAAACA	0.522																																						uc010pkq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.e3-1		Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.							95	92	93					1																	161987297		2203	4300	6503	SO:0001630	splice_region_variant	25903							g.chr1:161987297G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.439-1C>T	1.37:g.161987297G>A						OLFML2B_uc001gbu.3_Splice_Site_p.L147_splice	p.L147_splice	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		3	863	-	all_hematologic(112;0.156)		147					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.439_splice	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933248	0.73442	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.44083	0.93;0.93	5.38	4.45	0.53987	.	.	.	.	.	T	0.42787	0.1218	L	0.60455	1.87	0.45946	D	0.998773	D;D	0.69078	0.99;0.997	P;D	0.64877	0.861;0.93	T	0.52117	-0.8618	8	0.87932	D	0	.	7.3397	0.26630	0.0871:0.1712:0.7417:0.0	.	147;147	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	F	147	ENSP00000294794:L147F;ENSP00000356917:L147F	ENSP00000294794:L147F	L	-	1	0	OLFML2B	160253921	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	4.273000	0.58914	1.459000	0.47892	0.655000	0.94253	CTC		0.522	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	Missense_Mutation	A	161987297	G	A	161987297	5	1	148	1	0	0	0	0	0	0	1	0	10858	985	34	3	1837	3	OLFML2B	1	161987297	Splice_Site	SNP	G	TCGA-16-0846-01A-01W-0424-08	6357326	161987297	87263324	8	10077											
LGR6	59352	broad.mit.edu	37	chr1	202249926	202249926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcatttgcataacaaccGcatccagcatctggggaccc	11	7	9	14	1	1	0	0	0	1	0	2	1	2	1	3	3	4	4	3	3	2	2	rs372287043		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:202249926G>A	ENST00000367278.3	+	6	751	c.662G>A	c.(661-663)cGc>cAc	p.R221H	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.R169H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	221					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.R221H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATAACAACCGCATCCAGCAT	0.567																																						uc001gxu.3																			1	Substitution - Missense(1)	p.R221H(2)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(661-663)cGc>cAc		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.		G	,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	119	125		,506,662	-1.2	1	1		125	0,8600		0,0,4300	no	intron,missense,missense	LGR6	NM_001017404.1,NM_021636.2,NM_001017403.1	,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign,benign	,169/916,221/968	202249926	1,13005	2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202249926G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.662G>A	1.37:g.202249926G>A	ENSP00000356247:p.Arg221His					LGR6_uc001gxv.3_Missense_Mutation_p.R169H|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	p.R221H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			5	662	+			221					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.662G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983616	0.35036	2.27E-4	0.0	ENSG00000133067	ENST00000367278;ENST00000255432	T;T	0.59083	0.29;0.29	4.87	-1.25	0.09405	.	0.404179	0.25798	N	0.028225	T	0.42720	0.1215	L	0.31476	0.935	0.58432	D	0.999997	B;B	0.29481	0.054;0.245	B;B	0.31751	0.029;0.135	T	0.29488	-1.0010	10	0.52906	T	0.07	.	11.5342	0.50628	0.3696:0.0:0.6304:0.0	.	169;221	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	H	221;169	ENSP00000356247:R221H;ENSP00000255432:R169H	ENSP00000255432:R169H	R	+	2	0	LGR6	200516549	0.003000	0.15002	0.995000	0.50966	0.945000	0.59286	-0.049000	0.11924	-0.110000	0.12022	-0.258000	0.10820	CGC		0.567	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		A	202249926	G	A	202249926	3	1	148	1	0	0	0	0	1	0	0	0	8758	1087	38	1	831	1	LGR6	1	202249926	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	40262629	202249926	47000695	9	10078											
LAMB3	3914	broad.mit.edu	37	chr1	209797264	209797264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccattgaagcttctGtcaagactctccaggtctct	10	11	9	11	0	4	3	1	1	3	2	6	4	4	3	2	2	1	1	2	2	2	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:209797264G>A	ENST00000356082.4	-	15	2192	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	LAMB3_ENST00000367030.3_Silent_p.D686D|LAMB3_ENST00000391911.1_Silent_p.D686D|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	686	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAAGCTTCTGTCAAGACTCT	0.547																																						uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2056-2058)gaC>gaT		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.							95	93	94					1																	209797264		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209797264G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2058C>T	1.37:g.209797264G>A						LAMB3_uc009xco.3_Silent_p.D686D|LAMB3_uc001hhh.3_Silent_p.D686D|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	p.D686D	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2448	-			686			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.2058C>T	CCDS1487.1																																																																																				0.547	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209797264	G	A	209797264	2	1	148	1	0	0	0	0	0	0	0	1	8612	1368	48	3		3	LAMB3	1	209797264	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	7547338	209797264	39453357	10	10079											
BCL11A	53335	broad.mit.edu	37	chr2	60688453	60688453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcccacgcccacgaccgCgccccgcgagctgttctcgt	4	6	11	20	8	1	0	0	0	1	0	3	2	1	0	5	0	1	2	5	0	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:60688453C>T	ENST00000335712.6	-	4	1821	c.1594G>A	c.(1594-1596)Gcg>Acg	p.A532T	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.A498T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.A201T|BCL11A_ENST00000538214.1_Missense_Mutation_p.A498T|BCL11A_ENST00000356842.4_Missense_Mutation_p.A532T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	532					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCACGACCGCGCCCCGCGAG	0.697			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1594-1596)Gcg>Acg		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							10	10	10					2																	60688453		2186	4244	6430	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688453C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1594G>A	2.37:g.60688453C>T	ENSP00000338774:p.Ala532Thr					BCL11A_uc002sab.3_Missense_Mutation_p.A532T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A201T|BCL11A_uc010ypj.2_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	p.A532T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	1822	-			532					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1594G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	5.016	0.188708	0.09547	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08008	3.14;3.43;3.3;3.42;3.36	4.08	4.08	0.47627	.	1.000740	0.08066	U	0.999097	T	0.03827	0.0108	N	0.08118	0	0.29659	N	0.843375	B;B;B;P;B	0.44659	0.331;0.341;0.001;0.84;0.429	B;B;B;B;B	0.25614	0.062;0.011;0.0;0.06;0.035	T	0.13791	-1.0496	10	0.34782	T	0.22	-2.6692	12.0915	0.53728	0.0:1.0:0.0:0.0	.	498;201;498;532;532	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	T	532;557;498;201;532;498	ENSP00000349300:A532T;ENSP00000438303:A498T;ENSP00000443712:A201T;ENSP00000338774:A532T;ENSP00000351307:A498T	ENSP00000338774:A532T	A	-	1	0	BCL11A	60541957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.028000	0.41088	2.563000	0.86464	0.650000	0.86243	GCG		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		T	60688453	C	T	60688453	3	4	148	1	0	0	0	0	1	0	0	0	1363	768	27	1	1023	1	BCL11A	2	60688453	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		60688453	182510920	11	10080											
MYO7B	4648	broad.mit.edu	37	chr2	128370138	128370138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaacctggagaaggtgCacttcatcgtgggctacgcc	8	9	12	12	2	1	1	1	0	0	1	3	2	2	1	3	3	3	2	3	3	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:128370138C>T	ENST00000409816.2	+	24	3312	c.3280C>T	c.(3280-3282)Cac>Tac	p.H1094Y	MYO7B_ENST00000428314.1_Missense_Mutation_p.H1094Y|MYO7B_ENST00000389524.4_Missense_Mutation_p.H1094Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1094	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAAGGTGCACTTCATCGT	0.602																																						uc002top.3																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(3280-3282)Cac>Tac		Homo sapiens myosin VIIB (MYO7B), mRNA.							62	70	67					2																	128370138		2131	4242	6373	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128370138C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3280C>T	2.37:g.128370138C>T	ENSP00000386461:p.His1094Tyr						p.H1094Y	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	24	3333	+	Colorectal(110;0.1)		1094			MyTH4 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3280C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.621209	0.87460	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.91945	-2.94;-2.94;-2.94	4.61	4.61	0.57282	MyTH4 domain (3);	0.122641	0.53938	D	0.000041	D	0.95297	0.8474	M	0.73372	2.23	0.58432	D	0.999996	D	0.63880	0.993	D	0.64595	0.927	D	0.96002	0.8994	10	0.87932	D	0	.	17.427	0.87529	0.0:1.0:0.0:0.0	.	1094	Q6PIF6	MYO7B_HUMAN	Y	1094	ENSP00000374175:H1094Y;ENSP00000415090:H1094Y;ENSP00000386461:H1094Y	ENSP00000374175:H1094Y	H	+	1	0	MYO7B	128086608	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.324000	0.79115	2.109000	0.64355	0.462000	0.41574	CAC		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		T	128370138	C	T	128370138	3	4	148	1	0	0	0	0	1	0	0	0	10083	710	25	3	3374	3	MYO7B	2	128370138	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	67681685	128370138	114829235	12	10081											
SCN9A	6335	broad.mit.edu	37	chr2	167056246	167056246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggacatcatcaaagcaaAgagcagcgtgcggatcccct	14	5	11	11	2	2	1	2	0	0	1	3	3	3	3	2	2	4	2	2	2	3	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:167056246A>T	ENST00000409435.1	-	26	4902	c.4903T>A	c.(4903-4905)Ttt>Att	p.F1635I	SCN9A_ENST00000375387.4_Missense_Mutation_p.F1636I|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1624I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1636I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1635					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.F1624V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCAAAGCAAAGAGCAGCGTG	0.507																																						uc010fpl.3																			1	Substitution - Missense(1)	p.F1624V(2)	kidney(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4870-4872)Ttt>Att		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						158	156	156					2																	167056246		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056246A>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4903T>A	2.37:g.167056246A>T	ENSP00000386330:p.Phe1635Ile					BC051759_uc002udp.3_Non-coding_Transcript	p.F1624I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	5211	-			1635					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4870T>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704114	0.88924	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000007	D	0.98921	0.9634	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.99831	1.1054	10	0.87932	D	0	.	16.0249	0.80536	1.0:0.0:0.0:0.0	.	1624	E7EUN6	.	I	1624;1636;1636;1635	ENSP00000386306:F1624I;ENSP00000364536:F1636I;ENSP00000304748:F1636I;ENSP00000386330:F1635I	ENSP00000304748:F1636I	F	-	1	0	SCN9A	166764492	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.157000	0.94714	2.181000	0.69327	0.528000	0.53228	TTT		0.507	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167056246	A	T	167056246	3	4	148	1	0	0	0	0	1	0	0	0	13925	72	3	5	1067	5	SCN9A	2	167056246	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	38686108	167056246	76143127	13	10082											
HOXD4	3233	broad.mit.edu	37	chr2	177017342	177017342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttgtctcgcagtgaaccCcaactacaccggtggggaac	9	9	11	12	2	1	1	0	1	1	0	2	2	1	2	3	3	4	2	3	3	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:177017342C>T	ENST00000306324.3	+	2	852	c.440C>T	c.(439-441)cCc>cTc	p.P147L	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_Intron	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	147					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGTGAACCCCAACTACACC	0.597																																						uc002uks.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(439-441)cCc>cTc		Homo sapiens homeobox D4 (HOXD4), mRNA.							30	34	32					2																	177017342		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017342C>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.440C>T	2.37:g.177017342C>T	ENSP00000302548:p.Pro147Leu						p.P147L	NM_014621	NP_055436	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	689	+			147					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.440C>T	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017496	0.54576	.	.	ENSG00000170166	ENST00000306324	D	0.95447	-3.71	5.4	4.53	0.55603	Homeodomain-related (1);Homeodomain-like (1);	0.055533	0.64402	N	0.000001	D	0.96694	0.8921	M	0.88377	2.95	0.80722	D	1	P	0.50443	0.935	P	0.49561	0.615	D	0.96773	0.9570	10	0.87932	D	0	.	14.06	0.64793	0.0:0.9273:0.0:0.0727	.	147	P09016	HXD4_HUMAN	L	147	ENSP00000302548:P147L	ENSP00000302548:P147L	P	+	2	0	HOXD4	176725588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.280000	0.44463	0.655000	0.94253	CCC		0.597	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			T	177017342	C	T	177017342	3	4	148	1	0	0	0	0	1	0	0	0	7324	623	22	3	446	3	HOXD4	2	177017342	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	9961096	177017342	66182031	14	10083											
COL3A1	1281	broad.mit.edu	37	chr2	189858803	189858803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtcctggtggtaaaggcGaaatggtaagctgtccccac	10	9	13	9	1	0	0	0	0	0	0	2	1	2	0	3	4	1	4	3	4	5	3	rs187907868		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:189858803G>A	ENST00000304636.3	+	17	1359	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E397K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	397	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTAAAGGCGAAATGGTAAG	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		17374	0		0	False		,,,				2504	0					uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1189-1191)Gaa>Aaa		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						142	139	140					2																	189858803		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189858803G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1189G>A	2.37:g.189858803G>A	ENSP00000304408:p.Glu397Lys					COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	p.E397K	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		16	1306	+			397			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1189G>A	CCDS2297.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.94|12.94	2.088684|2.088684	0.36855|0.36855	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94184|.	-3.18;-3.37|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.53938|.	D|.	0.000060|.	T|T	0.61578|0.61578	0.2358|0.2358	L|L	0.45285|0.45285	1.41|1.41	0.45216|0.45216	D|D	0.998229|0.998229	P|.	0.47962|.	0.903|.	B|.	0.40410|.	0.328|.	T|T	0.55049|0.55049	-0.8201|-0.8201	10|5	0.11182|.	T|.	0.66|.	.|.	15.0791|15.0791	0.72099|0.72099	0.0:0.1411:0.8589:0.0|0.0:0.1411:0.8589:0.0	.|.	397|.	P02461|.	CO3A1_HUMAN|.	K|Q	397|63	ENSP00000304408:E397K;ENSP00000315243:E397K|.	ENSP00000304408:E397K|.	E|R	+|+	1|2	0|0	COL3A1|COL3A1	189567048|189567048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.862000|3.862000	0.56009|0.56009	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189858803	G	A	189858803	3	1	148	1	0	0	0	0	1	0	0	0	3688	1059	37	2	1255	2	COL3A1	2	189858803	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12841461	189858803	53340570	15	10084											
PRKAG3	53632	broad.mit.edu	37	chr2	219689035	219689035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacatagtgtcctctgcctCagggcttctcccacactcat	8	11	7	15	0	4	1	2	0	2	1	6	1	5	1	3	1	1	1	3	1	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:219689035C>T	ENST00000529249.1	-	12	1578	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	PRKAG3_ENST00000439262.2_Silent_p.L396L|PRKAG3_ENST00000545803.1_Silent_p.L237L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	421					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TCCTCTGCCTCAGGGCTTCTC	0.597																																						uc002vjb.1																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1261-1263)ctG>ctA		Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.							81	78	79					2																	219689035		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219689035C>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1263G>A	2.37:g.219689035C>T							p.L421L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1282	-		Renal(207;0.0474)	421					Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.1263G>A	CCDS2424.1																																																																																				0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			T	219689035	C	T	219689035	2	4	148	1	0	0	0	0	0	0	0	1	12502	813	29	3		3	PRKAG3	2	219689035	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	29830232	219689035	23510338	16	10085											
GRM7	2917	broad.mit.edu	37	chr3	6903256	6903256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttccccgtgcacgccaagGgtcccagcggagtgccctgc	5	7	13	16	3	0	0	0	0	0	0	2	1	2	1	5	2	4	2	5	2	1	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:6903256G>T	ENST00000357716.4	+	1	455	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	GRM7_ENST00000403881.1_Missense_Mutation_p.G61C|GRM7_ENST00000389336.4_Missense_Mutation_p.G61C|GRM7_ENST00000402647.2_Missense_Mutation_p.G61C|GRM7_ENST00000486284.1_Missense_Mutation_p.G61C	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	61					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCACGCCAAGGGTCCCAGCGG	0.672																																						uc003bqm.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(181-183)Ggt>Tgt		Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						20	21	21					3																	6903256		2202	4299	6501	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903256G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.181G>T	3.37:g.6903256G>T	ENSP00000350348:p.Gly61Cys					GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	p.G61C	NM_000844	NP_000835	Q14831	GRM7_HUMAN			0	455	+			61					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.181G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496718	0.85069	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.80237	0.4586	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.82273	-0.0539	10	0.66056	D	0.02	.	17.7009	0.88294	0.0:0.0:1.0:0.0	.	61;61;61	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	C	61	ENSP00000350348:G61C;ENSP00000417536:G61C;ENSP00000373987:G61C;ENSP00000385664:G61C;ENSP00000384585:G61C	ENSP00000350348:G61C	G	+	1	0	GRM7	6878256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.843000	0.86859	2.503000	0.84419	0.557000	0.71058	GGT		0.672	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		T	6903256	G	T	6903256	3	4	148	1	0	0	0	0	1	0	0	0	6802	1232	43	5	183	5	GRM7	3	6903256	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		6903256	191119174	17	10086											
CD38	952	broad.mit.edu	37	chr4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagaaaggactgcagcaAcaaccctgtttcagtattct	12	10	9	10	0	2	1	1	0	1	1	2	3	2	2	1	2	4	4	1	2	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:15835885A>G	ENST00000226279.3	+	4	682	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	182					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388																																						uc003gol.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(544-546)aAc>aGc		Homo sapiens CD38 molecule (CD38), mRNA.							96	93	94					4																	15835885		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835885A>G	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.545A>G	4.37:g.15835885A>G	ENSP00000226279:p.Asn182Ser					CD38_uc021xmk.1_Non-coding_Transcript	p.N182S	NM_001775	NP_001766	P28907	CD38_HUMAN			3	652	+			182					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.545A>G	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.297|8.297	0.819016|0.819016	0.16607|0.16607	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000226279;ENST00000510674|ENST00000540195	T;T|.	0.15487|.	2.42;2.42|.	5.31|5.31	-1.76|-1.76	0.08006|0.08006	.|.	0.627818|.	0.17906|.	N|.	0.158037|.	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	B|.	0.12630|.	0.006|.	B|.	0.09377|.	0.004|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|6	0.37606|0.41790	T|T	0.19|0.15	-14.0866|-14.0866	1.128|1.128	0.01739|0.01739	0.471:0.146:0.2424:0.1406|0.471:0.146:0.2424:0.1406	.|.	182|.	P28907|.	CD38_HUMAN|.	S|A	182;70|137	ENSP00000226279:N182S;ENSP00000423047:N70S|.	ENSP00000226279:N182S|ENSP00000442176:T137A	N|T	+|+	2|1	0|0	CD38|CD38	15444983|15444983	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.055000|-0.055000	0.11807|0.11807	-0.434000|-0.434000	0.07275|0.07275	-1.597000|-1.597000	0.00832|0.00832	AAC|ACA		0.388	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		G	15835885	A	G	15835885	3	3	148	1	0	0	0	0	1	0	0	0	3009	43	2	4	559	4	CD38	4	15835885	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08		15835885	175318391	18	10087											
GALNT7	51809	broad.mit.edu	37	chr4	174219326	174219326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacacatatgaaattataccCcaagggggtggtgatgaaga	16	8	11	6	0	0	4	0	3	0	1	0	4	0	4	2	3	2	0	2	3	7	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:174219326C>T	ENST00000265000.4	+	6	1109	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	342					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AAATTATACCCCAAGGGGGTG	0.473																																						uc003isz.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1024-1026)ccC>ccT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.							92	90	91					4																	174219326		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174219326C>T	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1026C>T	4.37:g.174219326C>T						GALNT7_uc011ckb.2_Intron	p.P342P	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	5	1109	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	342					B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.1026C>T	CCDS3815.1																																																																																				0.473	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		T	174219326	C	T	174219326	2	4	148	1	0	0	0	0	0	0	0	1	6218	610	22	3		3	GALNT7	4	174219326	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	158383441	174219326	16934950	19	10088											
C9	735	broad.mit.edu	37	chr5	39316092	39316092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaatgcttcaatttgttCttcgtaatgttcggttctga	8	20	7	6	2	3	1	1	1	2	0	5	1	3	1	0	1	1	5	0	1	4	9			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:39316092C>G	ENST00000263408.4	-	6	750	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	219	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCAATTTGTTCTTCGTAATGT	0.303																																						uc003jlv.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(655-657)Gaa>Caa		Homo sapiens complement component 9 (C9), mRNA.							74	71	72					5																	39316092		2203	4299	6502	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39316092C>G		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.655G>C	5.37:g.39316092C>G	ENSP00000263408:p.Glu219Gln						p.E219Q	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	744	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	219			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.655G>C	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242578	0.39598	.	.	ENSG00000113600	ENST00000263408	T	0.31510	1.49	5.56	4.68	0.58851	Membrane attack complex component/perforin (MACPF) domain (1);	0.267750	0.41294	N	0.000908	T	0.30634	0.0771	L	0.51422	1.61	0.33203	D	0.552451	B	0.24721	0.11	B	0.19148	0.024	T	0.41502	-0.9505	10	0.54805	T	0.06	-23.7782	15.6817	0.77373	0.0:0.862:0.138:0.0	.	219	P02748	CO9_HUMAN	Q	219	ENSP00000263408:E219Q	ENSP00000263408:E219Q	E	-	1	0	C9	39351849	0.866000	0.29940	0.996000	0.52242	0.499000	0.33736	1.092000	0.30927	1.475000	0.48197	0.655000	0.94253	GAA		0.303	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			G	39316092	C	G	39316092	3	3	148	1	0	0	0	0	1	0	0	0	2443	922	32	5	1048	5	C9	5	39316092	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		39316092	141599168	20	10089											
HEATR7B2	133558	broad.mit.edu	37	chr5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctgaatttctcaaGggctgcatttaaaacacaca	12	12	8	9	0	1	1	1	1	1	0	2	1	1	1	0	2	3	4	0	2	4	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:41061824G>T	ENST00000399564.4	-	6	913	c.463C>A	c.(463-465)Ctt>Att	p.L155I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	155																	AATTTCTCAAGGGCTGCATTT	0.398																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(463-465)Ctt>Att		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							82	77	78					5																	41061824		1833	4092	5925	SO:0001583	missense	133558						binding	g.chr5:41061824G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.463C>A	5.37:g.41061824G>T	ENSP00000382476:p.Leu155Ile					HEATR7B2_uc021xxt.1_Missense_Mutation_p.L155I	p.L155I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			5	953	-			155					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.463C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333017	0.81801	.	.	ENSG00000171495	ENST00000399564	T	0.06449	3.3	5.81	5.81	0.92471	Armadillo-type fold (1);	0.000000	0.51477	D	0.000097	T	0.22126	0.0533	M	0.63843	1.955	0.34708	D	0.727412	D	0.71674	0.998	D	0.83275	0.996	T	0.03933	-1.0991	10	0.35671	T	0.21	.	15.5834	0.76462	0.0:0.0:1.0:0.0	.	155	Q7Z745	HTRB2_HUMAN	I	155	ENSP00000382476:L155I	ENSP00000382476:L155I	L	-	1	0	HEATR7B2	41097581	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.428000	0.59894	2.756000	0.94617	0.655000	0.94253	CTT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41061824	G	T	41061824	3	4	148	1	0	0	0	0	1	0	0	0	7035	1000	35	5	4442	5	HEATR7B2	5	41061824	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1745732	41061824	139853436	21	10090											
POLR3G	10622	broad.mit.edu	37	chr5	89802453	89802453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacgatgacgatgatgccGcagaacaggaggaatatgat	15	7	13	6	3	0	5	0	4	0	1	0	9	0	7	1	2	2	1	1	2	3	1	rs375576885		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:89802453G>A	ENST00000399107.1	+	7	747	c.547G>A	c.(547-549)Gca>Aca	p.A183T	POLR3G_ENST00000504930.1_Missense_Mutation_p.A183T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	183	Glu-rich.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		cgatgatgccgcagaacagga	0.368																																						uc003kjq.3																			0				cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9						c.(547-549)Gca>Aca		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.		G	THR/ALA	1,4001		0,1,2000	110	115	114		547	4.3	0.9	5		114	0,8326		0,0,4163	no	missense	POLR3G	NM_006467.2	58	0,1,6163	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	183/224	89802453	1,12327	2001	4163	6164	SO:0001583	missense	10622				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	g.chr5:89802453G>A	U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.547G>A	5.37:g.89802453G>A	ENSP00000382058:p.Ala183Thr					POLR3G_uc011cuc.2_Missense_Mutation_p.A183T	p.A183T	NM_006467	NP_006458	O15318	RPC7_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)	6	747	+		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	183			Glu-rich.		A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	37	c.547G>A	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622379	0.14193	2.5E-4	0.0	ENSG00000113356	ENST00000503373;ENST00000399107;ENST00000504930	.	.	.	4.28	4.28	0.50868	.	0.393727	0.27595	N	0.018670	T	0.53061	0.1773	L	0.44542	1.39	0.35464	D	0.796753	D	0.55385	0.971	P	0.50754	0.649	T	0.65348	-0.6190	9	0.54805	T	0.06	-3.3284	12.4258	0.55546	0.0:0.0:1.0:0.0	.	183	O15318	RPC7_HUMAN	T	183	.	ENSP00000382058:A183T	A	+	1	0	POLR3G	89838209	0.978000	0.34361	0.949000	0.38748	0.180000	0.23129	2.648000	0.46647	2.356000	0.79943	0.655000	0.94253	GCA		0.368	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	NM_006467		A	89802453	G	A	89802453	3	1	148	1	0	0	0	0	1	0	0	0	12234	1087	38	1	569	1	POLR3G	5	89802453	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	48740629	89802453	91112807	22	10091											
C5orf46	389336	broad.mit.edu	37	chr5	147286057	147286057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggcgaagtactgagAcagccattctggtagcacgg	10	8	13	10	2	2	1	1	1	1	1	2	3	2	1	1	3	3	3	1	3	3	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:147286057A>C	ENST00000318315.4	-	1	8	c.8T>G	c.(7-9)gTc>gGc	p.V3G	C5orf46_ENST00000515291.1_Missense_Mutation_p.V3G|C5orf46_ENST00000510432.1_5'Flank	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	3						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						AAGTACTGAGACAGCCATTCT	0.453																																						uc010jgp.3																			0				NS(1)|lung(1)|prostate(1)	3						c.(7-9)gTc>gGc		Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.							99	86	90					5																	147286057		2203	4300	6503	SO:0001583	missense	389336					extracellular region		g.chr5:147286057A>C		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.8T>G	5.37:g.147286057A>C	ENSP00000315370:p.Val3Gly					C5orf46_uc003lou.3_Missense_Mutation_p.V3G|C5orf46_uc003lov.4_Missense_Mutation_p.V3G	p.V3G	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN			0	45	-			3					A8K038|Q8WU04	Missense_Mutation	SNP	ENST00000318315.4	37	c.8T>G	CCDS34267.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044752	0.36085	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	T;T	0.58797	0.31;0.31	4.88	-1.74	0.08056	.	0.710767	0.12194	N	0.490935	T	0.33847	0.0877	.	.	.	0.46458	D	0.999057	B	0.09022	0.002	B	0.09377	0.004	T	0.10965	-1.0607	8	.	.	.	-11.6471	4.3641	0.11216	0.3894:0.3346:0.2761:0.0	.	3	Q6UWT4	CE046_HUMAN	G	3	ENSP00000315370:V3G;ENSP00000425984:V3G	.	V	-	2	0	C5orf46	147266250	1.000000	0.71417	0.982000	0.44146	0.798000	0.45092	0.500000	0.22562	-0.129000	0.11620	0.533000	0.62120	GTC		0.453	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		C	147286057	A	C	147286057	3	2	148	1	0	0	0	0	1	0	0	0	2305	275	10	5	267	5	C5orf46	5	147286057	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	57483604	147286057	33629203	23	10092											
SH3TC2	79628	broad.mit.edu	37	chr5	148427540	148427540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcggctctttacacagaagGagagtgtcaggtcttaaaga	13	9	12	7	1	3	3	1	0	2	3	3	4	3	3	0	3	2	1	0	3	4	3	rs201291203	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:148427540G>C	ENST00000515425.1	-	3	265	c.164C>G	c.(163-165)tCc>tGc	p.S55C	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S55C	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	55					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGAAGGAGAGTGTCAG	0.498																																						uc003lpu.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(163-165)tCc>tGc		Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.							99	106	104					5																	148427540		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148427540G>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.164C>G	5.37:g.148427540G>C	ENSP00000423660:p.Ser55Cys					SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	p.S55C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	316	-			55					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.164C>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139560	0.56936	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.77229	-1.07;-1.08	5.41	4.48	0.54585	.	0.096565	0.49916	D	0.000133	T	0.74854	0.3771	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.983	B;D;B	0.76071	0.417;0.987;0.417	T	0.75202	-0.3401	10	0.56958	D	0.05	.	7.1687	0.25706	0.09:0.174:0.7359:0.0	.	55;55;55	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	C	55	ENSP00000423660:S55C;ENSP00000421860:S55C	ENSP00000313025:S55C	S	-	2	0	SH3TC2	148407733	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.863000	0.39459	2.710000	0.92621	0.655000	0.94253	TCC		0.498	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		C	148427540	G	C	148427540	3	2	148	1	0	0	0	0	1	0	0	0	14262	1174	41	5	3762	5	SH3TC2	5	148427540	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1141483	148427540	32487720	24	10093											
KIAA0319	9856	broad.mit.edu	37	chr6	24563628	24563628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctggaccttaatgtcCgagtccagcacgttcagcag	9	11	9	12	2	3	0	1	0	2	0	5	2	5	1	3	1	2	3	3	1	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:24563628C>T	ENST00000378214.3	-	16	3074	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	KIAA0319_ENST00000535378.1_Silent_p.S841S|KIAA0319_ENST00000430948.2_Silent_p.S805S|KIAA0319_ENST00000537886.1_Silent_p.S850S|KIAA0319_ENST00000543707.1_Silent_p.S850S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	850					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587																																						uc011djo.2																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2548-2550)tcG>tcA		Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.							75	61	66					6																	24563628		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24563628C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2550G>A	6.37:g.24563628C>T						KIAA0319_uc011djp.2_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	p.S850S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN			15	3050	-			850					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.2550G>A	CCDS34348.1																																																																																				0.587	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24563628	C	T	24563628	2	4	148	1	0	0	0	0	0	0	0	1	8168	639	23	2		2	KIAA0319	6	24563628	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08		24563628	146551439	25	10094											
PHACTR2	9749	broad.mit.edu	37	chr6	144033221	144033221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggttcccaaacacctcccTtcaaaagaaaggggaaacta	16	6	7	12	0	1	1	1	0	0	1	3	2	3	2	3	3	2	1	3	3	6	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:144033221T>C	ENST00000427704.2	+	2	212	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	PHACTR2_ENST00000397980.3_Missense_Mutation_p.F39L|PHACTR2_ENST00000367582.3_Missense_Mutation_p.F39L|PHACTR2_ENST00000367584.4_Missense_Mutation_p.F96L|PHACTR2_ENST00000305766.6_Missense_Mutation_p.F28L|PHACTR2_ENST00000440869.2_Missense_Mutation_p.F39L	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	28							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AACACCTCCCTTCAAAAGAAA	0.433																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc010khi.3																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(115-117)Ttc>Ctc		Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.							112	112	112					6																	144033221		1828	4081	5909	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144033221T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.82T>C	6.37:g.144033221T>C	ENSP00000391763:p.Phe28Leu					PHACTR2_uc003qjq.4_Missense_Mutation_p.F28L|PHACTR2_uc010khh.3_Missense_Mutation_p.F28L|PHACTR2_uc003qjr.4_Missense_Mutation_p.F39L	p.F39L	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	1	314	+			28					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.115T>C	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303852	0.40795	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.27402	1.68;2.07;1.68;2.06;1.67	5.93	5.93	0.95920	.	0.266107	0.42053	D	0.000773	T	0.05502	0.0145	N	0.00368	-1.59	0.33137	D	0.543873	P;B;B;P	0.48503	0.911;0.347;0.347;0.473	P;B;B;B	0.53062	0.717;0.12;0.12;0.056	T	0.09952	-1.0651	10	0.11485	T	0.65	.	10.6852	0.45839	0.0:0.0709:0.0:0.9291	.	39;28;39;28	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	L	96;28;28;39;39;39;39;39	ENSP00000356556:F96L;ENSP00000391763:F28L;ENSP00000305530:F28L;ENSP00000417038:F39L;ENSP00000356554:F39L	ENSP00000305530:F28L	F	+	1	0	PHACTR2	144074914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.843000	0.55865	2.270000	0.75569	0.482000	0.46254	TTC		0.433	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		C	144033221	T	C	144033221	3	2	148	1	0	0	0	0	1	0	0	0	11810	1609	56	4	138	4	PHACTR2	6	144033221	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	119469593	144033221	27081846	26	10095											
SDK1	221935	broad.mit.edu	37	chr7	4213951	4213951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcactgaggccaagaCgctcaaaaaccctatagctt	13	7	9	12	1	2	2	2	1	0	1	2	2	2	2	2	2	2	3	2	2	5	3	rs140602039		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:4213951C>T	ENST00000404826.2	+	33	5037	c.4898C>T	c.(4897-4899)aCg>aTg	p.T1633M	SDK1_ENST00000389531.3_Missense_Mutation_p.T1633M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1633	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGCCAAGACGCTCAAAAAC	0.562																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4897-4899)aCg>aTg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.		T	MET/THR	1,4405	2.1+/-5.4	0,1,2202	199	189	193		4898	1.1	0.1	7	dbSNP_134	193	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1633/2214	4213951	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4213951C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4898C>T	7.37:g.4213951C>T	ENSP00000385899:p.Thr1633Met					SDK1_uc010kso.3_Missense_Mutation_p.T909M|SDK1_uc003smy.3_Missense_Mutation_p.T120M	p.T1633M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	32	5037	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1633			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4898C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	c	2.176	-0.388695	0.04932	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.62788	-0.0;0.25	4.91	1.14	0.20703	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.245355	0.32548	N	0.005950	T	0.56863	0.2014	M	0.80183	2.485	0.22873	N	0.998625	B;B;B	0.32467	0.217;0.257;0.372	B;B;B	0.26969	0.063;0.067;0.075	T	0.50457	-0.8826	10	0.46703	T	0.11	.	8.2688	0.31831	0.0:0.6059:0.0:0.3941	.	1633;120;1633	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	M	1633	ENSP00000385899:T1633M;ENSP00000374182:T1633M	ENSP00000374182:T1633M	T	+	2	0	SDK1	4180477	0.018000	0.18449	0.056000	0.19401	0.026000	0.11368	0.090000	0.15025	-0.070000	0.12908	-1.402000	0.01139	ACG		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4213951	C	T	4213951	3	4	148	1	0	0	0	0	1	0	0	0	13968	536	19	1	5028	1	SDK1	7	4213951	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		4213951	154924712	27	10096											
CPVL	54504	broad.mit.edu	37	chr7	29160576	29160576	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgagtctcccttaggTggcatggaaacacttctgta	8	13	10	10	0	2	1	0	1	2	0	4	2	3	2	2	3	1	2	2	3	3	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:29160576T>C	ENST00000409850.1	-	6	748	c.102A>G	c.(100-102)ccA>ccG	p.P34P	CPVL_ENST00000396276.3_Silent_p.P34P|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.P34P			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	34						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCCCTTAGGTGGCATGGAAA	0.468																																						uc003szv.3																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(100-102)ccA>ccG		Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.							109	100	103					7																	29160576		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29160576T>C	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.102A>G	7.37:g.29160576T>C						CPVL_uc003szw.3_Silent_p.P34P|CPVL_uc003szx.3_Silent_p.P34P	p.P34P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			1	221	-			34					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.102A>G	CCDS5419.1																																																																																				0.468	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		C	29160576	T	C	29160576	2	2	148	1	0	0	0	0	0	0	0	1	3835	1683	59	4		4	CPVL	7	29160576	Silent	SNP	T	TCGA-16-0846-01A-01W-0424-08	24946625	29160576	129978087	28	10097											
AEBP1	165	broad.mit.edu	37	chr7	44148536	44148536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctccgccccagaagcccGatgctgagcgccagacagac	9	4	10	18	3	0	4	0	1	0	3	2	5	2	4	6	0	3	1	6	0	1	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:44148536G>A	ENST00000223357.3	+	7	1284	c.979G>A	c.(979-981)Gat>Aat	p.D327N	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	327					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAAGCCCGATGCTGAGCG	0.652																																						uc003tkb.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(979-981)Gat>Aat		Homo sapiens AE binding protein 1 (AEBP1), mRNA.							48	44	45					7																	44148536		2194	4291	6485	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148536G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.979G>A	7.37:g.44148536G>A	ENSP00000223357:p.Asp327Asn					AEBP1_uc003tkc.4_5'Flank|AEBP1_uc022aci.1_5'Flank|AEBP1_uc003tkd.3_5'Flank	p.D327N	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			6	1284	+			327					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.979G>A	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.465555|1.465555	0.26335|0.26335	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	D|.	0.95724|.	-3.79|.	4.53|4.53	1.6|1.6	0.23607|0.23607	.|.	3.890440|.	0.00738|.	N|.	0.000988|.	T|T	0.30854|0.30854	0.0778|0.0778	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999991|0.999991	P|.	0.39782|.	0.688|.	B|.	0.22601|.	0.04|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.66056|.	D|.	0.02|.	-11.8308|-11.8308	8.8401|8.8401	0.35137|0.35137	0.0:0.3091:0.531:0.1599|0.0:0.3091:0.531:0.1599	.|.	327|.	Q8IUX7|.	AEBP1_HUMAN|.	N|Q	327|219	ENSP00000223357:D327N|.	ENSP00000223357:D327N|.	D|R	+|+	1|2	0|0	AEBP1|AEBP1	44115061|44115061	0.003000|0.003000	0.15002|0.15002	0.006000|0.006000	0.13384|0.13384	0.735000|0.735000	0.41995|0.41995	0.793000|0.793000	0.26944|0.26944	0.092000|0.092000	0.17331|0.17331	0.591000|0.591000	0.81541|0.81541	GAT|CGA		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44148536	G	A	44148536	3	1	148	1	0	0	0	0	1	0	0	0	349	1058	37	2	1005	2	AEBP1	7	44148536	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	14987960	44148536	114990127	29	10098											
ZNF680	340252	broad.mit.edu	37	chr7	64004099	64004099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctacctgggggtttggctAccatctcctgtctcttccta	5	14	8	14	0	2	0	0	0	2	0	5	0	3	0	5	3	2	2	5	3	3	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:64004099A>G	ENST00000309683.6	-	3	390	c.239T>C	c.(238-240)gTa>gCa	p.V80A	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Missense_Mutation_p.V80A	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GGGTTTGGCTACCATCTCCTG	0.428																																						uc003tta.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(238-240)gTa>gCa		Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.							142	132	135					7																	64004099		2203	4300	6503	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004099A>G	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.239T>C	7.37:g.64004099A>G	ENSP00000309330:p.Val80Ala					ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	p.V80A	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			2	412	-		Lung NSC(55;0.118)|all_lung(88;0.243)	80			KRAB.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.239T>C	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	N	7.473	0.647068	0.14516	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.04603	3.59;5.79	0.458	-0.735	0.11137	Krueppel-associated box (1);	.	.	.	.	T	0.03348	0.0097	L	0.28504	0.86	0.09310	N	1	B;B	0.32939	0.391;0.3	B;B	0.30401	0.115;0.039	T	0.42050	-0.9474	8	0.40728	T	0.16	.	.	.	.	.	80;80	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	A	80	ENSP00000309330:V80A;ENSP00000393506:V80A	ENSP00000309330:V80A	V	-	2	0	ZNF680	63641534	0.928000	0.31464	0.004000	0.12327	0.004000	0.04260	1.115000	0.31209	-0.417000	0.07461	-0.425000	0.05940	GTA		0.428	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		G	64004099	A	G	64004099	3	3	148	1	0	0	0	0	1	0	0	0	18084	391	14	4	1484	4	ZNF680	7	64004099	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	19855563	64004099	95134564	30	10099											
ZAN	7455	broad.mit.edu	37	chr7	100377161	100377161	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgacctccgcagggcGcgggaaaagtgcgaggcagc	8	2	18	13	6	0	0	0	0	0	0	1	3	1	1	3	4	2	2	3	4	2	0	rs531109918	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100377161G>A	ENST00000348028.3	+	0	6575				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCGCAGGGCGCGGGAAAAGT	0.637													G|||	2	0.000399361	0	0	5008	,	,		13915	0		0	False		,,,				2504	0.002					uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(6406-6408)gcG>gcA		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							28	32	31					7																	100377161		1983	4142	6125			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377161G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377161G>A						ZAN_uc003uwk.3_Silent_p.A2136A|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.A224A	p.A2136A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		35	6573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2137			VWFD 3.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6408G>A																																																																																					0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100377161	G	A	100377161	1	1	148	0	1	0	0	0	0	0	0	0	17510	1074	38	1		1	ZAN	7	100377161	RNA	SNP	G	TCGA-16-0846-01A-01W-0424-08	36373062	100377161	58761502	31	10100											
MUC17	140453	broad.mit.edu	37	chr7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacatctacaaatgtcGtggagccaagaatgtatttg	14	11	9	7	1	1	1	0	0	1	1	2	2	1	2	1	1	4	2	1	1	7	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100674926G>A	ENST00000306151.4	+	3	293	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	77					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAAATGTCGTGGAGCCAAG	0.448																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(229-231)Gtg>Atg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							104	97	99					7																	100674926		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674926G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.229G>A	7.37:g.100674926G>A	ENSP00000302716:p.Val77Met					MUC17_uc010lho.1_Non-coding_Transcript	p.V77M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	282	+	Lung NSC(181;0.136)|all_lung(186;0.182)		77					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.229G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.888800	0.00060	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.694	-1.39	0.08997	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	P	0.49961	0.93	B	0.26693	0.072	T	0.42849	-0.9427	8	0.34782	T	0.22	.	.	.	.	.	77	Q685J3	MUC17_HUMAN	M	77	ENSP00000302716:V77M	ENSP00000302716:V77M	V	+	1	0	MUC17	100461646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.447000	0.00467	-4.233000	0.00063	-4.557000	0.00004	GTG		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100674926	G	A	100674926	3	1	148	1	0	0	0	0	1	0	0	0	9974	1145	40	1	239	1	MUC17	7	100674926	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	297765	100674926	58463737	32	10101											
RELN	5649	broad.mit.edu	37	chr7	103124180	103124180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacatgccaggtgatcccGttgttgacgctgtattgcag	8	12	12	9	2	0	3	0	3	0	0	1	3	1	3	2	1	2	5	2	1	1	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:103124180G>A	ENST00000428762.1	-	62	10260	c.10101C>T	c.(10099-10101)aaC>aaT	p.N3367N	RELN_ENST00000343529.5_Silent_p.N3367N|RELN_ENST00000424685.2_Silent_p.N3367N|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3367					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTGATCCCGTTGTTGACGC	0.552																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(10099-10101)aaC>aaT		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							241	201	215					7																	103124180		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103124180G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10101C>T	7.37:g.103124180G>A						RELN_uc022ajq.1_Silent_p.N3367N|RELN_uc010liz.3_Silent_p.N3367N	p.N3367N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	61	10261	-			3367					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.10101C>T	CCDS47680.1																																																																																				0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103124180	G	A	103124180	2	1	148	1	0	0	0	0	0	0	0	1	13220	1136	40	1		1	RELN	7	103124180	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	2449254	103124180	56014483	33	10102											
PUS7	54517	broad.mit.edu	37	chr7	105111170	105111170	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactatattcttcattccatAttttgaaagtcctcgaagca	12	15	5	9	1	2	1	1	1	1	0	5	3	4	1	2	0	1	1	2	0	5	8			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:105111170A>C	ENST00000356362.2	-	11	1577	c.1363T>G	c.(1363-1365)Tat>Gat	p.Y455D	PUS7_ENST00000469408.1_Missense_Mutation_p.Y455D	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	455	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCATTCCATATTTTGAAAGT	0.423																																					Colon(138;2387 3051 17860)	uc010lji.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(1381-1383)Tat>Gat		Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.							158	152	154					7																	105111170		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105111170A>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1363T>G	7.37:g.105111170A>C	ENSP00000348722:p.Tyr455Asp					PUS7_uc003vcx.3_Missense_Mutation_p.Y455D|PUS7_uc003vcy.3_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	p.Y461D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			10	1389	-			455			TRUD.		Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.1381T>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.784625	0.70222	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.44881	0.91;0.91	5.94	5.94	0.96194	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.053046	0.85682	D	0.000000	T	0.48978	0.1530	L	0.49571	1.57	0.58432	D	0.999997	P;D	0.55172	0.889;0.97	P;P	0.51101	0.456;0.659	T	0.41342	-0.9514	10	0.37606	T	0.19	-35.4642	15.579	0.76418	1.0:0.0:0.0:0.0	.	455;455	B3KY42;Q96PZ0	.;PUS7_HUMAN	D	455	ENSP00000348722:Y455D;ENSP00000417402:Y455D	ENSP00000348722:Y455D	Y	-	1	0	PUS7	104898406	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.918000	0.75788	2.279000	0.76181	0.459000	0.35465	TAT		0.423	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		C	105111170	A	C	105111170	3	2	148	1	0	0	0	0	1	0	0	0	12833	449	16	5	646	5	PUS7	7	105111170	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	1986990	105111170	54027493	34	10103											
GIMAP7	168537	broad.mit.edu	37	chr7	150217096	150217096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgctccctgaggatcGttctggtagggaaaactgga	10	8	14	9	2	1	1	0	1	1	0	3	5	2	5	2	5	1	3	2	5	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:150217096G>A	ENST00000313543.4	+	2	191	c.34G>A	c.(34-36)Gtt>Att	p.V12I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	12	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAGGATCGTTCTGGTAGG	0.498																																						uc003whk.3																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(34-36)Gtt>Att		Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.							67	60	62					7																	150217096		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217096G>A	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.34G>A	7.37:g.150217096G>A	ENSP00000315474:p.Val12Ile					GIMAP7_uc022apu.1_Missense_Mutation_p.V12I	p.V12I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	164	+			12						Missense_Mutation	SNP	ENST00000313543.4	37	c.34G>A	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362825	0.61403	.	.	ENSG00000179144	ENST00000313543	T	0.07114	3.22	4.77	3.87	0.44632	AIG1 (1);	0.153382	0.42964	N	0.000640	T	0.07413	0.0187	L	0.52364	1.645	0.34246	D	0.678221	P	0.52692	0.955	B	0.38327	0.271	T	0.33701	-0.9858	10	0.34782	T	0.22	.	8.2356	0.31625	0.1099:0.0:0.8901:0.0	.	12	Q8NHV1	GIMA7_HUMAN	I	12	ENSP00000315474:V12I	ENSP00000315474:V12I	V	+	1	0	GIMAP7	149848029	0.935000	0.31712	0.991000	0.47740	0.888000	0.51559	1.536000	0.36072	1.368000	0.46115	0.655000	0.94253	GTT		0.498	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		A	150217096	G	A	150217096	3	1	148	1	0	0	0	0	1	0	0	0	6384	1145	40	1	36	1	GIMAP7	7	150217096	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	45105926	150217096	8921567	35	10104											
INTS9	55756	broad.mit.edu	37	chr8	28627526	28627526	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttcccgctcgtgggctgGgcgggccgaggagggggcta	3	8	19	11	4	1	0	0	0	1	0	3	2	2	1	2	6	0	3	2	6	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:28627526G>T	ENST00000521022.1	-	16	1761	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	INTS9_ENST00000416984.2_Silent_p.A539A|INTS9_ENST00000521777.1_Silent_p.A536A|INTS9_ENST00000397363.4_Silent_p.A454A	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	560					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCGTGGGCTGGGCGGGCCGAG	0.602											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xha.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1678-1680)gcC>gcA		Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.							69	60	63					8																	28627526		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28627526G>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1680C>A	8.37:g.28627526G>T			OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	803	INTS9_uc011lav.2_Silent_p.A536A|INTS9_uc011law.2_Silent_p.A539A|INTS9_uc011lax.2_Silent_p.A453A|INTS9_uc010lvc.3_Non-coding_Transcript	p.A560A	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	15	1979	-		Ovarian(32;0.0439)	560					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.1680C>A	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150619	0.01700	.	.	ENSG00000104299	ENST00000517383	.	.	.	5.69	1.7	0.24286	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	T	0.51100	-0.8748	4	.	.	.	-0.1729	10.2536	0.43383	0.0:0.2381:0.3232:0.4386	.	.	.	.	H	34	.	.	P	-	2	0	INTS9	28683445	0.008000	0.16893	0.318000	0.25279	0.042000	0.13812	-0.133000	0.10451	0.019000	0.15079	-0.175000	0.13238	CCC		0.602	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		T	28627526	G	T	28627526	2	4	148	1	0	0	0	0	0	0	0	1	7785	1219	43	5		5	INTS9	8	28627526	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		28627526	117736496	36	10105											
PRKDC	5591	broad.mit.edu	37	chr8	48772255	48772255	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggttgagaaatcaaattGactcatttcctcactcaggg	11	12	8	10	1	4	2	4	2	0	1	6	3	6	2	2	2	0	1	2	2	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:48772255G>A	ENST00000314191.2	-	47	6177	c.6121C>T	c.(6121-6123)Caa>Taa	p.Q2041*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q2041*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2042					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATCAAATTGACTCATTTCC	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0		p.M2040I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6121-6123)Caa>Taa	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							93	91	91					8																	48772255		1869	4117	5986	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772255G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6121C>T	8.37:g.48772255G>A	ENSP00000313420:p.Gln2041*					PRKDC_uc003xqj.3_Nonsense_Mutation_p.Q2041*	p.Q2041*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			46	6178	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2042					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.6121C>T		.	.	.	.	.	.	.	.	.	.	G	47	13.778442	0.99762	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.2546	0.93941	0.0:0.0:1.0:0.0	.	.	.	.	X	2041	.	ENSP00000313420:Q2041X	Q	-	1	0	PRKDC	48934808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.786000	0.95864	0.561000	0.74099	CAA		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		A	48772255	G	A	48772255	4	1	148	1	0	0	0	0	0	1	0	0	12521	1299	45	3	6426	3	PRKDC	8	48772255	Nonsense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	20144729	48772255	97591767	37	10106											
RP1	6101	broad.mit.edu	37	chr8	55540932	55540932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaattaatccaagaagAggtagaggctagtaaaactt	18	9	10	4	0	0	5	0	1	0	4	1	5	1	5	1	2	1	3	1	2	9	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:55540932A>T	ENST00000220676.1	+	4	4638	c.4490A>T	c.(4489-4491)gAg>gTg	p.E1497V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1497					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCCAAGAAGAGGTAGAGGCT	0.313																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0		p.E1497E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4489-4491)gAg>gTg		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							43	49	47					8																	55540932		2199	4295	6494	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540932A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4490A>T	8.37:g.55540932A>T	ENSP00000220676:p.Glu1497Val					RP1_uc011ldy.1_Intron	p.E1497V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	4638	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1497						Missense_Mutation	SNP	ENST00000220676.1	37	c.4490A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	3.567	-0.088420	0.07097	.	.	ENSG00000104237	ENST00000220676	T	0.64803	-0.12	5.48	2.94	0.34122	.	1.161200	0.06303	N	0.701237	T	0.52757	0.1754	L	0.60455	1.87	0.09310	N	1	P	0.40144	0.704	B	0.31946	0.138	T	0.52185	-0.8609	10	0.87932	D	0	.	3.3528	0.07158	0.6085:0.1939:0.0773:0.1203	.	1497	P56715	RP1_HUMAN	V	1497	ENSP00000220676:E1497V	ENSP00000220676:E1497V	E	+	2	0	RP1	55703485	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.707000	0.25704	0.902000	0.36520	0.533000	0.62120	GAG		0.313	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55540932	A	T	55540932	3	4	148	1	0	0	0	0	1	0	0	0	13532	304	11	5	4500	5	RP1	8	55540932	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	6768677	55540932	90823090	38	10107											
TRPA1	8989	broad.mit.edu	37	chr8	72973980	72973980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtggcagcaaaatgaatgGctgtgcaccttcccttctgt	8	11	12	10	0	1	1	0	1	1	0	2	1	2	1	2	3	2	4	2	3	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:72973980G>A	ENST00000262209.4	-	7	1031	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	275					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAATGAATGGCTGTGCACCT	0.393																																						uc003xza.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(823-825)gCc>gTc		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						147	120	130					8																	72973980		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72973980G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.824C>T	8.37:g.72973980G>A	ENSP00000262209:p.Ala275Val						p.A275V	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		6	999	-			275					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.824C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752467	0.69533	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.70399	-0.48;-0.48	4.94	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.282680	0.39210	N	0.001429	D	0.83294	0.5223	M	0.87900	2.915	0.48632	D	0.999689	D	0.61697	0.99	P	0.62740	0.906	D	0.84225	0.0463	10	0.37606	T	0.19	-4.3953	13.3992	0.60872	0.0755:0.0:0.9245:0.0	.	275	O75762	TRPA1_HUMAN	V	127;275	ENSP00000428151:A127V;ENSP00000262209:A275V	ENSP00000262209:A275V	A	-	2	0	TRPA1	73136534	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	8.663000	0.91134	1.317000	0.45149	-0.140000	0.14226	GCC		0.393	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		A	72973980	G	A	72973980	3	1	148	1	0	0	0	0	1	0	0	0	16574	1203	42	3	2619	3	TRPA1	8	72973980	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	17433048	72973980	73390042	39	10108											
MAPK15	225689	broad.mit.edu	37	chr8	144801307	144801307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggtaccgagcaccggagGtgctgctctcttcgcaccgg	5	8	14	14	4	1	0	0	0	1	0	3	2	1	1	3	4	4	6	3	4	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:144801307G>T	ENST00000338033.4	+	6	681	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	MAPK15_ENST00000395107.4_Missense_Mutation_p.V205L|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V188L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCGGAGGTGCTGCTCTC	0.687																																						uc003yzj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(562-564)Gtg>Ttg		Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.							36	38	37					8																	144801307		2177	4255	6432	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801307G>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.562G>T	8.37:g.144801307G>T	ENSP00000337691:p.Val188Leu						p.V188L	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	603	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.562G>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	8.397	0.840978	0.16891	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.68479	-0.33;-0.33;-0.33	4.06	3.08	0.35506	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070982	0.53938	D	0.000045	T	0.41880	0.1178	N	0.05199	-0.095	0.31771	N	0.632163	B	0.24317	0.101	B	0.32533	0.147	T	0.42361	-0.9456	10	0.42905	T	0.14	-0.0857	4.0945	0.09985	0.3228:0.0:0.6772:0.0	.	188	Q8TD08	MK15_HUMAN	L	188;205;188	ENSP00000337691:V188L;ENSP00000378539:V205L;ENSP00000378540:V188L	ENSP00000337691:V188L	V	+	1	0	MAPK15	144873295	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	2.672000	0.46850	2.069000	0.61940	0.431000	0.28591	GTG		0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		T	144801307	G	T	144801307	3	4	148	1	0	0	0	0	1	0	0	0	9277	1261	44	5	584	5	MAPK15	8	144801307	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	71827327	144801307	1562715	40	10109											
NCBP1	4686	broad.mit.edu	37	chr9	100433448	100433448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaccctcatatcttggcCgtgttccagcagttctgtgc	6	14	9	12	1	3	1	1	0	2	1	4	1	4	1	3	1	2	3	3	1	2	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr9:100433448C>T	ENST00000375147.3	+	23	2596	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	780					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.A780A(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				ATATCTTGGCCGTGTTCCAGC	0.423																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.3																			1	Substitution - coding silent(1)	p.A780A(2)	central_nervous_system(1)	NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(2338-2340)gcC>gcT		Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.							152	134	140					9																	100433448		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433448C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2340C>T	9.37:g.100433448C>T							p.A780A	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			22	2799	+		Acute lymphoblastic leukemia(62;0.158)	780					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2340C>T	CCDS6728.1																																																																																				0.423	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		T	100433448	C	T	100433448	2	4	148	1	0	0	0	0	0	0	0	1	10211	639	23	2		2	NCBP1	9	100433448	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08		100433448	40779983	41	10110											
VDAC2	7417	broad.mit.edu	37	chr10	76970926	76970926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctcgccatggcgaccCacggacagacttgcgcgcgt	6	5	14	16	7	0	1	0	0	0	1	1	3	0	2	3	3	1	0	3	3	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:76970926C>T	ENST00000332211.6	+	2	223	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	VDAC2_ENST00000535553.1_5'UTR|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_5'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.H4Y	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	4					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CATGGCGACCCACGGACAGAC	0.627																																						uc001jxa.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10								Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Dihydroxyaluminium(DB01375)						37	35	36					10																	76970926		2203	4300	6503	SO:0001583	missense	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76970926C>T	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.10C>T	10.37:g.76970926C>T	ENSP00000361686:p.His4Tyr					VDAC2_uc021ptp.1_Missense_Mutation_p.H4Y|VDAC2_uc010qld.2_5'UTR|VDAC2_uc001jwz.3_Missense_Mutation_p.H4Y|VDAC2_uc010qle.2_5'UTR		NM_001184783	NP_001171712	P45880	VDAC2_HUMAN			1		+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)							Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37		CCDS7348.1	.	.	.	.	.	.	.	.	.	.	C	4.199	0.035643	0.08148	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000447677	T;T;T;T;T	0.43294	0.96;0.97;0.95;0.97;0.95	5.54	0.603	0.17541	.	38.903100	0.00166	N	0.000000	T	0.23330	0.0564	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	10	0.09590	T	0.72	.	8.1516	0.31143	0.0:0.3434:0.0:0.6566	.	4	P45880	VDAC2_HUMAN	Y	4	ENSP00000298468:H4Y;ENSP00000443092:H4Y;ENSP00000344876:H4Y;ENSP00000361686:H4Y;ENSP00000401492:H4Y	ENSP00000298468:H4Y	H	+	1	0	VDAC2	76640932	0.019000	0.18553	0.987000	0.45799	0.910000	0.53928	0.287000	0.18920	0.145000	0.18977	-1.004000	0.02495	CAC		0.627	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		T	76970926	C	T	76970926	3	4	148	1	0	0	0	0	1	0	0	0	17144	594	21	3	12	3	VDAC2	10	76970926	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		76970926	58563821	42	10111											
PTEN	5728	broad.mit.edu	37	chr10	89690846	89690846	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaaatttaattgcagaGgtaggtatgaatgtactgta	13	12	10	6	1	0	2	0	1	0	1	0	2	0	2	2	2	2	5	2	2	7	7			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:89690846G>T	ENST00000371953.3	+	4	1610	c.253G>T	c.(253-255)Gtt>Ttt	p.V85F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	85	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAATTGCAGAGGTAGGTATGA	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		56	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(6)|Deletion - In frame(1)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|lung(7)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e4+1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							82	75	78					10																	89690846		2202	4295	6497	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690846G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.253+1G>T	10.37:g.89690846G>T		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.V85_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1285	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	85			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.253_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319475	0.95682	.	.	ENSG00000171862	ENST00000371953	D	0.98633	-5.04	5.62	5.62	0.85841	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	9	.	.	.	-10.4098	20.0185	0.97487	0.0:0.0:1.0:0.0	.	85	P60484	PTEN_HUMAN	F	85	ENSP00000361021:V85F	.	V	+	1	0	PTEN	89680826	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	GTT		0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation	T	89690846	G	T	89690846	5	4	148	1	0	0	0	0	0	0	1	0	12738	1014	35	5	267	5	PTEN	10	89690846	Splice_Site	SNP	G	TCGA-16-0846-01A-01W-0424-08	12719920	89690846	45843901	43	10112											
SEC23IP	11196	broad.mit.edu	37	chr10	121668628	121668628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtggagagacaattgttAtgcacaatccaaaggtaatg	16	9	10	6	0	0	1	0	0	0	1	1	3	1	2	1	2	1	3	1	2	6	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:121668628A>G	ENST00000369075.3	+	5	1249	c.1177A>G	c.(1177-1179)Atg>Gtg	p.M393V	SEC23IP_ENST00000543134.1_Missense_Mutation_p.M182V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	393					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GACAATTGTTATGCACAATCC	0.303																																						uc001leu.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(1177-1179)Atg>Gtg		Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.							92	92	92					10																	121668628		2203	4299	6502	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121668628A>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1177A>G	10.37:g.121668628A>G	ENSP00000358071:p.Met393Val					SEC23IP_uc010qtc.2_Missense_Mutation_p.M182V	p.M393V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	1387	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	393					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1177A>G	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521442	0.44866	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.28255	1.62;1.62	5.14	5.14	0.70334	.	0.034121	0.85682	D	0.000000	T	0.36303	0.0962	M	0.71296	2.17	0.58432	D	0.999999	B;B	0.29612	0.251;0.085	B;B	0.32677	0.15;0.058	T	0.14811	-1.0459	10	0.27785	T	0.31	-12.1079	15.2525	0.73559	1.0:0.0:0.0:0.0	.	182;393	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	V	393;182	ENSP00000358071:M393V;ENSP00000438773:M182V	ENSP00000358071:M393V	M	+	1	0	SEC23IP	121658618	1.000000	0.71417	0.951000	0.38953	0.997000	0.91878	5.545000	0.67237	2.064000	0.61679	0.454000	0.30748	ATG		0.303	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			G	121668628	A	G	121668628	3	3	148	1	0	0	0	0	1	0	0	0	13993	449	16	4	1195	4	SEC23IP	10	121668628	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	31977782	121668628	13866119	44	10113											
TH	7054	broad.mit.edu	37	chr11	2186970	2186970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgttctgcttacacagcccGaactccaccgtgaaccagta	10	8	7	16	3	1	1	0	1	1	0	2	2	2	1	5	0	5	3	5	0	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:2186970G>A	ENST00000381178.1	-	12	1239	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TH_ENST00000381175.1_Silent_p.F403F|TH_ENST00000352909.3_Silent_p.F376F|TH_ENST00000333684.5_Silent_p.F286F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	407					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TACACAGCCCGAACTCCACCG	0.667																																						uc001lvq.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(1219-1221)ttC>ttT		Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						48	48	48					11																	2186970		2197	4293	6490	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2186970G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1221C>T	11.37:g.2186970G>A						TH_uc001lvp.3_Silent_p.F403F|TH_uc001lvr.3_Silent_p.F376F|TH_uc010qxj.2_Silent_p.F380F|TH_uc001lvs.3_Silent_p.F282F|TH_uc001lvt.3_Silent_p.F286F|TH_uc009ydh.1_Non-coding_Transcript	p.F407F	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	11	1240	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	407					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.1221C>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	5.795	0.330995	0.10956	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	-8.05	0.01106	.	.	.	.	.	T	0.47838	0.1467	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54629	-0.8265	4	.	.	.	-5.3528	8.674	0.34167	0.3066:0.0:0.5783:0.1151	.	.	.	.	W	96	.	.	R	-	1	2	TH	2143546	0.002000	0.14202	0.974000	0.42286	0.315000	0.28087	-0.932000	0.03963	-1.245000	0.02513	-0.573000	0.04149	CGG		0.667	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		A	2186970	G	A	2186970	2	1	148	1	0	0	0	0	0	0	0	1	15835	1049	37	2		2	TH	11	2186970	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		2186970	132819546	45	10114											
OR51A4	401666	broad.mit.edu	37	chr11	4967921	4967921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctgacagttgtcaggAttgaggtgtatctcagaggg	10	11	13	7	0	3	3	2	2	2	1	4	4	3	4	0	3	1	2	0	3	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:4967921A>G	ENST00000380373.2	-	1	435	c.410T>C	c.(409-411)aTc>aCc	p.I137T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTGTCAGGATTGAGGTGTA	0.428																																						uc010qys.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(409-411)aTc>aCc		Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.							280	281	281					11																	4967921		2186	4268	6454	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967921A>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.410T>C	11.37:g.4967921A>G	ENSP00000369731:p.Ile137Thr						p.I137T	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	410	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	137						Missense_Mutation	SNP	ENST00000380373.2	37	c.410T>C	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266339	0.40095	.	.	ENSG00000205497	ENST00000380373	T	0.21191	2.02	3.58	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31765	0.0807	M	0.88906	2.99	0.22034	N	0.999404	P	0.37398	0.593	B	0.37943	0.261	T	0.21314	-1.0249	9	0.72032	D	0.01	.	9.171	0.37081	0.8159:0.1841:0.0:0.0	.	137	Q8NGJ6	O51A4_HUMAN	T	137	ENSP00000369731:I137T	ENSP00000369731:I137T	I	-	2	0	OR51A4	4924497	0.305000	0.24481	0.006000	0.13384	0.194000	0.23727	4.707000	0.61852	0.538000	0.28769	0.473000	0.43528	ATC		0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		G	4967921	A	G	4967921	3	3	148	1	0	0	0	0	1	0	0	0	11087	333	12	4	533	4	OR51A4	11	4967921	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	2780951	4967921	130038595	46	10115											
NAV2	89797	broad.mit.edu	37	chr11	19961278	19961278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcgtggagcccagccActtcaccaagactggacagc	10	6	12	13	1	1	2	1	1	0	1	1	4	1	4	3	2	4	0	3	2	1	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:19961278A>G	ENST00000396087.3	+	9	2273	c.2174A>G	c.(2173-2175)cAc>cGc	p.H725R	NAV2_ENST00000540292.1_Missense_Mutation_p.H656R|NAV2_ENST00000360655.4_Missense_Mutation_p.H638R|NAV2_ENST00000396085.1_Missense_Mutation_p.H702R|NAV2_ENST00000349880.4_Missense_Mutation_p.H702R|NAV2_ENST00000527559.2_Missense_Mutation_p.H654R	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	725					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGCCCAGCCACTTCACCAAG	0.532																																						uc010rdm.2																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2173-2175)cAc>cGc		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							143	110	121					11																	19961278		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19961278A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2174A>G	11.37:g.19961278A>G	ENSP00000379396:p.His725Arg					NAV2_uc001mpp.3_Missense_Mutation_p.H638R|NAV2_uc001mpr.4_Missense_Mutation_p.H702R|NAV2_uc021qew.1_Missense_Mutation_p.H702R	p.H725R	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			8	2535	+			725					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2174A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675803	0.29783	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.26810	1.71;1.82;1.82;1.82;1.71;1.71	5.71	4.55	0.56014	.	0.188661	0.37304	N	0.002144	T	0.14356	0.0347	N	0.22421	0.69	0.80722	D	1	B;B	0.19583	0.017;0.037	B;B	0.23018	0.027;0.043	T	0.13255	-1.0516	9	.	.	.	.	5.2722	0.15630	0.5384:0.1206:0.0:0.3411	.	702;638	Q8IVL1-3;Q8IVL1-4	.;.	R	638;702;702;725;654;656	ENSP00000353871:H638R;ENSP00000379394:H702R;ENSP00000309577:H702R;ENSP00000379396:H725R;ENSP00000435395:H654R;ENSP00000443489:H656R	.	H	+	2	0	NAV2	19917854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.099000	0.50267	2.174000	0.68829	0.460000	0.39030	CAC		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		G	19961278	A	G	19961278	3	3	148	1	0	0	0	0	1	0	0	0	10184	159	6	4	2214	4	NAV2	11	19961278	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	14993357	19961278	115045238	47	10116											
SPRYD5	84767	broad.mit.edu	37	chr11	55655591	55655591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaagagcaacatcaCttggaaaggctgcgaaagga	17	5	12	7	1	1	3	1	1	0	2	1	6	1	5	0	3	3	2	0	3	5	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:55655591C>A	ENST00000449290.2	+	4	683	c.591C>A	c.(589-591)caC>caA	p.H197Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.H54Q	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	197						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H38Q(1)|p.H197Q(1)									AGCAACATCACTTGGAAAGGC	0.423																																						uc010rip.2																			2	Substitution - Missense(2)	p.H38Q(1)|p.H197Q(1)	lung(2)								c.(589-591)caC>caA		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							57	54	55					11																	55655591		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655591C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.591C>A	11.37:g.55655591C>A	ENSP00000395086:p.His197Gln					TRIM51_uc010riq.2_Missense_Mutation_p.H54Q	p.H197Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	683	+			197					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.591C>A		.	.	.	.	.	.	.	.	.	.	.	4.364	0.067088	0.08388	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	0.757	-1.47	0.08772	.	.	.	.	.	T	0.10551	0.0258	M	0.73753	2.245	0.09310	N	1	P	0.41748	0.761	B	0.38106	0.265	T	0.19844	-1.0293	9	0.26408	T	0.33	.	3.2128	0.06689	0.0:0.3734:0.0:0.6266	.	197	Q9BSJ1	SPRY5_HUMAN	Q	197;54	ENSP00000395086:H197Q;ENSP00000244891:H54Q	ENSP00000244891:H54Q	H	+	3	2	SPRYD5	55412167	0.000000	0.05858	0.001000	0.08648	0.428000	0.31595	-0.774000	0.04684	-0.410000	0.07542	0.152000	0.16155	CAC		0.423	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55655591	C	A	55655591	3	1	148	1	0	0	0	0	1	0	0	0	15110	564	20	5	601	5	SPRYD5	11	55655591	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	35694313	55655591	79350925	48	10117											
BIN2	51411	broad.mit.edu	37	chr12	51696870	51696870	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccatgctgcattgcccaCctttgactgcactaaggaag	9	10	8	14	0	0	1	0	1	0	0	1	2	1	2	3	1	4	3	3	1	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:51696870C>T	ENST00000267012.4	-	3	279		c.e3+1		BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000604560.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GCATTGCCCACCTTTGACTGC	0.433																																						uc001ryg.3																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.e3+1		Homo sapiens bridging integrator 2 (BIN2), mRNA.							125	112	117					12																	51696870		2203	4300	6503	SO:0001630	splice_region_variant	51411					cytoplasm	protein binding	g.chr12:51696870C>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.217+1G>A	12.37:g.51696870C>T						BIN2_uc009zlz.3_Splice_Site_p.V73_splice|BIN2_uc001ryh.3_Splice_Site|BIN2_uc010sng.2_Splice_Site_p.V47_splice	p.V73_splice	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			3	269	-			73			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Splice_Site	SNP	ENST00000267012.4	37	c.217_splice	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739521	0.69304	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5219	0.75871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN2	49983137	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.207000	0.72159	2.586000	0.87340	0.655000	0.94253	.		0.433	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		Intron	T	51696870	C	T	51696870	5	4	148	1	0	0	0	0	0	0	1	0	1433	521	18	3	1523	3	BIN2	12	51696870	Splice_Site	SNP	C	TCGA-16-0846-01A-01W-0424-08		51696870	82155025	49	10118											
OR6C75	390323	broad.mit.edu	37	chr12	55759400	55759400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagttggatttctgtgcctCcaatgtaattgatcatttta	9	17	8	7	0	2	1	1	1	1	0	3	2	3	2	2	1	1	3	2	1	3	6			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:55759400C>G	ENST00000343399.3	+	1	506	c.506C>G	c.(505-507)tCc>tGc	p.S169C		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGTGCCTCCAATGTAATT	0.433																																						uc010spk.2																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(505-507)tCc>tGc		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							172	144	154					12																	55759400		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759400C>G		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.506C>G	12.37:g.55759400C>G	ENSP00000368987:p.Ser169Cys						p.S169C	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			0	506	+			169						Missense_Mutation	SNP	ENST00000343399.3	37	c.506C>G	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	15.35	2.807898	0.50421	.	.	ENSG00000187857	ENST00000343399	T	0.39592	1.07	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.70988	0.3287	M	0.91510	3.215	0.19300	N	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.67810	-0.5574	10	0.87932	D	0	.	14.5607	0.68133	0.0:0.8127:0.1873:0.0	.	169	A6NL08	O6C75_HUMAN	C	169	ENSP00000368987:S169C	ENSP00000368987:S169C	S	+	2	0	OR6C75	54045667	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	0.142000	0.16096	2.725000	0.93324	0.632000	0.83419	TCC		0.433	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			G	55759400	C	G	55759400	3	3	148	1	0	0	0	0	1	0	0	0	11199	855	30	5	508	5	OR6C75	12	55759400	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	4062530	55759400	78092495	50	10119											
FGD6	55785	broad.mit.edu	37	chr12	95604181	95604181	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaggtctttgacttcTgatttcttactaactccatc	9	15	6	11	0	3	2	0	2	3	0	5	3	4	3	2	2	2	0	2	2	3	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:95604181T>C	ENST00000343958.4	-	2	1102	c.879A>G	c.(877-879)tcA>tcG	p.S293S	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.S293S|FGD6_ENST00000546711.1_Silent_p.S293S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	293					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTTTGACTTCTGATTTCTTAC	0.388																																						uc001tdp.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(877-879)tcA>tcG		Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.							79	82	81					12																	95604181		2203	4300	6503	SO:0001819	synonymous_variant	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604181T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.879A>G	12.37:g.95604181T>C						FGD6_uc009zsx.3_Intron	p.S293S	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			1	1103	-			293					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.879A>G	CCDS31878.1																																																																																				0.388	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		C	95604181	T	C	95604181	2	2	148	1	0	0	0	0	0	0	0	1	5837	1567	55	4		4	FGD6	12	95604181	Silent	SNP	T	TCGA-16-0846-01A-01W-0424-08	39844781	95604181	38247714	51	10120											
TBX5	6910	broad.mit.edu	37	chr12	114804065	114804065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggaggggccggaaacaCcattctcacactggtattgg	9	8	13	11	1	1	0	1	0	1	0	2	2	1	2	3	6	1	1	3	6	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:114804065C>A	ENST00000310346.4	-	8	1553	c.887G>T	c.(886-888)gGt>gTt	p.G296V	TBX5_ENST00000405440.2_Missense_Mutation_p.G296V|TBX5_ENST00000526441.1_Missense_Mutation_p.G296V|TBX5_ENST00000349716.5_Missense_Mutation_p.G246V	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	296					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCGGAAACACCATTCTCACA	0.552																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(886-888)gGt>gTt		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							130	111	118					12																	114804065		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804065C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.887G>T	12.37:g.114804065C>A	ENSP00000309913:p.Gly296Val					TBX5_uc001tvp.3_Missense_Mutation_p.G296V|TBX5_uc001tvq.3_Missense_Mutation_p.G246V|TBX5_uc010syv.2_Missense_Mutation_p.G296V	p.G296V	NM_181486	NP_542448	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1382	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		296					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.887G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124992	0.77436	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.74674	0.984;0.904	D	0.92451	0.5970	10	0.56958	D	0.05	.	19.6517	0.95819	0.0:1.0:0.0:0.0	.	296;296	Q99593-2;Q99593	.;TBX5_HUMAN	V	246;296;193;296;296	ENSP00000337723:G246V;ENSP00000309913:G296V;ENSP00000384152:G296V;ENSP00000433292:G296V	ENSP00000309913:G296V	G	-	2	0	TBX5	113288448	1.000000	0.71417	0.945000	0.38365	0.613000	0.37349	7.487000	0.81328	2.662000	0.90505	0.655000	0.94253	GGT		0.552	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114804065	C	A	114804065	3	1	148	1	0	0	0	0	1	0	0	0	15658	507	18	5	744	5	TBX5	12	114804065	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	19199884	114804065	19047830	52	10121											
FAM124A	220108	broad.mit.edu	37	chr13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggccatcgacaacGtcctggcgtggatccacccc	8	6	12	15	3	0	0	0	0	0	0	3	3	2	2	5	4	2	1	5	4	1	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682																																						uc001vff.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(310-312)Gtc>Atc		Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.							26	23	24					13																	51825705		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51825705G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.202G>A	13.37:g.51825705G>A	ENSP00000324625:p.Val68Ile					FAM124A_uc001vfe.3_Missense_Mutation_p.V68I|FAM124A_uc001vfg.2_Missense_Mutation_p.V68I	p.V104I	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	478	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	68					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.310G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913792	0.72983	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.41758	0.99;0.99	5.79	4.89	0.63831	.	0.149802	0.45126	D	0.000390	T	0.45115	0.1326	L	0.47716	1.5	0.37949	D	0.932572	D;D;P	0.60575	0.988;0.973;0.621	P;B;B	0.50934	0.654;0.437;0.12	T	0.42666	-0.9438	10	0.37606	T	0.19	-21.3215	13.2784	0.60200	0.0:0.3021:0.6979:0.0	.	68;104;68	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	I	68;104	ENSP00000324625:V68I;ENSP00000280057:V104I	ENSP00000280057:V104I	V	+	1	0	FAM124A	50723706	1.000000	0.71417	0.970000	0.41538	0.984000	0.73092	3.626000	0.54245	2.735000	0.93741	0.655000	0.94253	GTC		0.682	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		A	51825705	G	A	51825705	3	1	148	1	0	0	0	0	1	0	0	0	5425	1145	40	1	324	1	FAM124A	13	51825705	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		51825705	63344173	53	10122											
FOXA1	3169	broad.mit.edu	37	chr14	38061904	38061904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttgctgaccgggaCggaggagtaggcctggagtg	7	9	18	7	2	1	1	1	1	0	0	1	5	1	5	2	5	1	4	2	5	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:38061904C>T	ENST00000250448.2	-	2	146	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	29					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGACCGGGACGGAGGAGTAG	0.632																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(85-87)Gtc>Atc		Homo sapiens forkhead box A1 (FOXA1), mRNA.							132	114	120					14																	38061904		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061904C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.85G>A	14.37:g.38061904C>T	ENSP00000250448:p.Val29Ile					FOXA1_uc010tpz.2_5'UTR	p.V29I	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	397	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		29					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.85G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531667	0.64972	.	.	ENSG00000129514	ENST00000250448	T	0.18657	2.2	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.878880	0.02993	N	0.147096	T	0.32704	0.0838	L	0.46157	1.445	0.80722	D	1	D	0.54397	0.966	P	0.47134	0.539	T	0.22626	-1.0211	10	0.38643	T	0.18	.	16.2573	0.82524	0.0:1.0:0.0:0.0	.	29	P55317	FOXA1_HUMAN	I	29	ENSP00000250448:V29I	ENSP00000250448:V29I	V	-	1	0	FOXA1	37131655	0.992000	0.36948	0.992000	0.48379	0.994000	0.84299	3.749000	0.55150	2.135000	0.66039	0.561000	0.74099	GTC		0.632	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			T	38061904	C	T	38061904	3	4	148	1	0	0	0	0	1	0	0	0	5989	536	19	1	1337	1	FOXA1	14	38061904	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		38061904	69287636	54	10123											
UNC13C	440279	broad.mit.edu	37	chr15	54556392	54556392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagagttctaaacatGgtgccgaagacaagactcag	17	6	10	8	1	2	4	1	0	1	4	2	5	2	4	1	1	2	1	1	1	6	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:54556392G>A	ENST00000260323.11	+	8	3475	c.3475G>A	c.(3475-3477)Ggt>Agt	p.G1159S	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1157S|UNC13C_ENST00000545554.1_Missense_Mutation_p.G1159S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1159					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTAAACATGGTGCCGAAGA	0.398																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3469-3471)Ggt>Agt		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							53	48	50					15																	54556392		1881	4099	5980	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54556392G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3475G>A	15.37:g.54556392G>A	ENSP00000260323:p.Gly1159Ser					UNC13C_uc021sms.1_Missense_Mutation_p.G1159S|UNC13C_uc002acl.3_5'UTR	p.G1157S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	6	3469	+			1159					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3469G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424672	0.96111	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80480	-1.38;-1.38;-1.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91626	0.5315	10	0.66056	D	0.02	.	18.8463	0.92208	0.0:0.0:1.0:0.0	.	1159	Q8NB66	UN13C_HUMAN	S	1159;1159;1157	ENSP00000260323:G1159S;ENSP00000438156:G1159S;ENSP00000442569:G1157S	ENSP00000260323:G1159S	G	+	1	0	UNC13C	52343684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.760000	0.94817	0.655000	0.94253	GGT		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54556392	G	A	54556392	3	1	148	1	0	0	0	0	1	0	0	0	16983	1348	47	3	3501	3	UNC13C	15	54556392	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		54556392	47975000	55	10124											
FAM108C1	58489	broad.mit.edu	37	chr15	81041941	81041941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctcgaggtatgaatgCgcagcggtaattctccattc	8	12	11	10	3	1	1	0	1	1	0	4	2	1	1	2	3	2	3	2	3	3	5	rs372424183		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:81041941C>T	ENST00000258884.4	+	2	805	c.678C>T	c.(676-678)tgC>tgT	p.C226C	ABHD17C_ENST00000560609.1_5'UTR|ABHD17C_ENST00000558464.1_Intron|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	226							hydrolase activity (GO:0016787)										GGTATGAATGCGCAGCGGTAA	0.507																																						uc002bfu.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(676-678)tgC>tgT		Homo sapiens family with sequence similarity 108, member C1 (FAM108C1), mRNA.		C		0,4050		0,0,2025	160	160	160		678	-4.4	0.6	15		160	1,8339		0,1,4169	no	coding-synonymous	FAM108C1	NM_021214.1		0,1,6194	TT,TC,CC		0.012,0.0,0.0081		226/330	81041941	1,12389	2025	4170	6195	SO:0001819	synonymous_variant	58489						hydrolase activity	g.chr15:81041941C>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"Abhydrolase domain containing"	26925	protein-coding gene	gene with protein product			"family with sequence similarity 108, member C1"	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.678C>T	15.37:g.81041941C>T						FAM108C1_uc002bft.3_Intron	p.C226C	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN			1	797	+			226					Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	c.678C>T	CCDS45323.1																																																																																				0.507	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		T	81041941	C	T	81041941	2	4	148	1	0	0	0	0	0	0	0	1	5393	776	27	1		1	FAM108C1	15	81041941	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	26485549	81041941	21489451	56	10125											
SLC28A1	9154	broad.mit.edu	37	chr15	85448820	85448820	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcagtttgtacttggActcctcgtcatcagaacaga	10	11	10	10	1	2	2	2	0	0	2	4	4	3	4	1	2	3	3	1	2	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:85448820A>T	ENST00000286749.3	+	7	744	c.654A>T	c.(652-654)ggA>ggT	p.G218G	SLC28A1_ENST00000537703.1_Silent_p.G140G|SLC28A1_ENST00000537216.1_Silent_p.G218G|SLC28A1_ENST00000394573.1_Silent_p.G218G|SLC28A1_ENST00000538177.1_Silent_p.G218G|SLC28A1_ENST00000537624.1_Silent_p.G218G			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	218					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTGTACTTGGACTCCTCGTCA	0.567																																						uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(652-654)ggA>ggT		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.							220	176	191					15																	85448820		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85448820A>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.654A>T	15.37:g.85448820A>T						SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.3_Silent_p.G218G|SLC28A1_uc010upe.2_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	p.G218G	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	856	+			218					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.654A>T	CCDS10334.1																																																																																				0.567	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85448820	A	T	85448820	2	4	148	1	0	0	0	0	0	0	0	1	14531	262	10	5		5	SLC28A1	15	85448820	Silent	SNP	A	TCGA-16-0846-01A-01W-0424-08	4406879	85448820	17082572	57	10126											
IL4R	3566	broad.mit.edu	37	chr16	27357926	27357926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaacatttggagtgaaaAcgacccggcagatgtgagtg	13	8	13	7	2	1	3	1	2	0	1	1	5	1	4	1	2	2	1	1	2	3	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:27357926A>T	ENST00000395762.2	+	6	759	c.500A>T	c.(499-501)aAc>aTc	p.N167I	IL4R_ENST00000449195.1_Missense_Mutation_p.N167I|IL4R_ENST00000380922.3_Missense_Mutation_p.N152I|IL4R_ENST00000170630.2_Missense_Mutation_p.N167I|IL4R_ENST00000543915.2_Missense_Mutation_p.N167I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	167	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAGTGAAAACGACCCGGCA	0.542																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(499-501)aAc>aTc		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							125	121	122					16																	27357926		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27357926A>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.500A>T	16.37:g.27357926A>T	ENSP00000379111:p.Asn167Ile					IL4R_uc002dom.3_Missense_Mutation_p.N167I|IL4R_uc002dop.4_Missense_Mutation_p.N152I|IL4R_uc010bxy.3_Missense_Mutation_p.N167I|IL4R_uc002doo.3_Missense_Mutation_p.T9S	p.N167I	NM_000418	NP_000409	P24394	IL4RA_HUMAN			5	742	+			167			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.500A>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	9.009	0.982046	0.18812	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	3.63	-0.0634	0.13777	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53562	0.1804	L	0.51422	1.61	0.09310	N	1	P;P;P	0.44139	0.827;0.634;0.802	B;B;B	0.41917	0.145;0.089;0.37	T	0.46205	-0.9208	9	0.41790	T	0.15	-14.1093	0.9552	0.01384	0.497:0.199:0.1119:0.1922	.	152;167;167	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	I	167;167;167;167;152;167	ENSP00000410322:N167I;ENSP00000379111:N167I;ENSP00000441667:N167I;ENSP00000370309:N152I;ENSP00000170630:N167I	ENSP00000170630:N167I	N	+	2	0	IL4R	27265427	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.795000	0.26972	-0.047000	0.13423	0.383000	0.25322	AAC		0.542	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27357926	A	T	27357926	3	4	148	1	0	0	0	0	1	0	0	0	7698	43	2	5	514	5	IL4R	16	27357926	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08		27357926	62996827	58	10127											
ZNF319	57567	broad.mit.edu	37	chr16	58030933	58030933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgtgccgcagcagctCggcagattggtcaaagcctt	8	9	12	12	2	1	1	1	0	0	1	2	1	1	1	2	2	4	5	2	2	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:58030933C>T	ENST00000299237.2	-	2	1859	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCAGCAGCTCGGCAGATTGG	0.647																																						uc002emx.1																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1237-1239)Gag>Aag		Homo sapiens zinc finger protein 319 (ZNF319), mRNA.							43	45	44					16																	58030933		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030933C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1237G>A	16.37:g.58030933C>T	ENSP00000299237:p.Glu413Lys					ZNF319_uc021tjd.1_Missense_Mutation_p.E413K	p.E413K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			1	1860	-			413					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1237G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319100	0.23994	.	.	ENSG00000166188	ENST00000299237	T	0.60299	0.2	5.21	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	N	0.13198	0.31	0.58432	D	0.999998	D	0.89917	1.0	D	0.63381	0.914	T	0.46205	-0.9208	10	0.08179	T	0.78	-25.153	14.162	0.65452	0.151:0.8489:0.0:0.0	.	413	Q9P2F9	ZN319_HUMAN	K	413	ENSP00000299237:E413K	ENSP00000299237:E413K	E	-	1	0	ZNF319	56588434	1.000000	0.71417	0.994000	0.49952	0.006000	0.05464	6.073000	0.71245	1.168000	0.42723	-0.181000	0.13052	GAG		0.647	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			T	58030933	C	T	58030933	3	4	148	1	0	0	0	0	1	0	0	0	17834	893	31	2	515	2	ZNF319	16	58030933	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	30673007	58030933	32323820	59	10128											
HYDIN	54768	broad.mit.edu	37	chr16	70917863	70917863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagtgtaaagaatgccGgcagggtggactgcagggtc	12	6	16	7	1	0	1	0	0	0	1	1	2	0	2	1	4	3	4	1	4	4	1	rs553587582		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:70917863G>A	ENST00000393567.2	-	59	10089	c.9939C>T	c.(9937-9939)gcC>gcT	p.A3313A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3313					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522													G|||	1	0.000199681	0	0	5008	,	,		21989	0		0.001	False		,,,				2504	0					uc002ezr.3																			2	Substitution - coding silent(2)	p.A3312A(1)|p.A3264A(1)	urinary_tract(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9934-9936)gcC>gcT		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							55	58	57					16																	70917863		1955	4146	6101	SO:0001819	synonymous_variant	54768							g.chr16:70917863G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9939C>T	16.37:g.70917863G>A							p.A3312A	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			58	10087	-		Ovarian(137;0.0654)	3313					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.9936C>T	CCDS59269.1																																																																																				0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70917863	G	A	70917863	2	1	148	1	0	0	0	0	0	0	0	1	7467	1103	39	2		2	HYDIN	16	70917863	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	12886930	70917863	19436890	60	10129											
MYBBP1A	10514	broad.mit.edu	37	chr17	4449142	4449142	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgtgaccaaggacccaccGatggtcttggtgcggctccg	6	8	13	14	4	1	1	0	1	1	0	3	3	2	2	4	4	1	1	4	4	1	1	rs562745701	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:4449142G>C	ENST00000254718.4	-	14	2226	c.1920C>G	c.(1918-1920)atC>atG	p.I640M	MYBBP1A_ENST00000381556.2_Splice_Site_p.I640M			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	640					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCCACCGATGGTCTTGG	0.652																																						uc002fxz.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.e14+1		Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.							25	25	25					17																	4449142		2203	4300	6503	SO:0001630	splice_region_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4449142G>C	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1921+1C>G	17.37:g.4449142G>C						MYBBP1A_uc002fyb.4_Splice_Site_p.D641_splice|MYBBP1A_uc010vsa.2_5'Flank	p.D641_splice	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN			14	1983	-			641					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1921_splice	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	g	12.09	1.834459	0.32421	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.69806	-0.43;-0.43	4.52	-1.59	0.08453	Armadillo-type fold (1);	1.614790	0.02722	N	0.114134	T	0.45276	0.1334	N	0.08118	0	0.09310	N	1	P;P	0.48503	0.911;0.891	P;B	0.44597	0.454;0.325	T	0.37126	-0.9719	10	0.48119	T	0.1	-9.4075	0.6623	0.00845	0.3314:0.1577:0.3373:0.1736	.	640;640	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	M	640	ENSP00000370968:I640M;ENSP00000254718:I640M	ENSP00000254718:I640M	I	-	3	3	MYBBP1A	4395891	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.161000	0.10026	-0.193000	0.10415	0.542000	0.68232	ATC		0.652	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	Missense_Mutation	C	4449142	G	C	4449142	5	2	148	1	0	0	0	0	0	0	1	0	10008	1072	37	5	2158	5	MYBBP1A	17	4449142	Splice_Site	SNP	G	TCGA-16-0846-01A-01W-0424-08		4449142	76746068	61	10130											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1	rs587780070		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(188)|p.H179R(106)|p.H179L(35)|p.H179N(30)|p.H179D(24)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H47Y(6)|p.H178fs*3(6)|p.H178P(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H179P(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179del(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.H178L(1)|p.E171fs*1(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H179fs*?(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							47	47	47					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.3_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.2_Missense_Mutation_p.H140Y	p.H179Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	729	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578395	G	A	7578395	3	1	148	1	0	0	0	0	1	0	0	0	16378	1348	47	3	763	3	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	3129253	7578395	73616815	62	10131											
MYOCD	93649	broad.mit.edu	37	chr17	12656063	12656063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccttcggcctgcacccGtccccagtccacgtgtgcac	4	8	8	21	3	0	0	0	0	0	0	4	0	3	0	7	1	2	2	7	1	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:12656063G>A	ENST00000343344.4	+	10	1458	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	MYOCD_ENST00000425538.1_Silent_p.P486P|AC005358.1_ENST00000609971.1_Silent_p.P390P|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	486	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTGCACCCGTCCCCAGTCC	0.632																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1456-1458)ccG>ccA		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.							53	52	52					17																	12656063		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656063G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1458G>A	17.37:g.12656063G>A						MYOCD_uc002gnn.2_Silent_p.P486P|MYOCD_uc002gnp.1_Silent_p.P390P|MYOCD_uc002gnq.2_Silent_p.P205P	p.P486P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	9	1757	+			486			Ser-rich.		Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1458G>A	CCDS11163.1																																																																																				0.632	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12656063	G	A	12656063	2	1	148	1	0	0	0	0	0	0	0	1	10087	1132	40	1		1	MYOCD	17	12656063	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	5077668	12656063	68539147	63	10132											
LRRC30	339291	broad.mit.edu	37	chr18	7231554	7231554	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgagctgagcttgtgcCgaaagctggaggtcctgagc	7	7	16	11	3	0	2	0	2	0	0	1	5	1	3	3	3	5	3	3	3	1	1	rs555867414		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:7231554C>T	ENST00000383467.2	+	1	432	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	140										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGCTTGTGCCGAAAGCTGGA	0.572																																						uc010wzk.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(418-420)Cga>Tga		Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.							43	49	47					18																	7231554		2081	4213	6294	SO:0001587	stop_gained	339291							g.chr18:7231554C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.418C>T	18.37:g.7231554C>T	ENSP00000372959:p.Arg140*						p.R140*	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			0	418	+			140						Nonsense_Mutation	SNP	ENST00000383467.2	37	c.418C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499296	0.85069	.	.	ENSG00000206422	ENST00000383467	.	.	.	5.65	-1.42	0.08913	.	0.417706	0.29799	N	0.011167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	10.8955	0.47021	0.4109:0.4858:0.0:0.1033	.	.	.	.	X	140	.	ENSP00000372959:R140X	R	+	1	2	LRRC30	7221554	0.775000	0.28604	0.095000	0.20976	0.943000	0.58893	1.700000	0.37815	-0.074000	0.12820	-0.271000	0.10264	CGA		0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		T	7231554	C	T	7231554	4	4	148	1	0	0	0	0	0	1	0	0	8985	644	23	2	420	2	LRRC30	18	7231554	Nonsense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		7231554	70845694	64	10133											
MIB1	57534	broad.mit.edu	37	chr18	19395686	19395686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgctcgaaacaagcgccGacagacaccacttcatattg	14	7	8	12	3	1	1	1	0	0	1	2	4	1	1	2	0	3	1	2	0	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:19395686G>A	ENST00000261537.6	+	11	1853	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	SNORA73_ENST00000363107.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	530					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAAGCGCCGACAGACACCA	0.438																																						uc002ktq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1588-1590)cGa>cAa		Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.							108	99	102					18																	19395686		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19395686G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1589G>A	18.37:g.19395686G>A	ENSP00000261537:p.Arg530Gln					MIB1_uc002ktp.3_Missense_Mutation_p.R169Q	p.R530Q	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		10	1589	+			530					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1589G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057281	0.93846	.	.	ENSG00000101752	ENST00000261537	T	0.15603	2.41	4.91	4.91	0.64330	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	N	0.02286	-0.61	0.58432	D	0.999999	D	0.54964	0.969	P	0.59761	0.863	T	0.46400	-0.9194	10	0.20046	T	0.44	-10.3713	18.4476	0.90690	0.0:0.0:1.0:0.0	.	530	Q86YT6	MIB1_HUMAN	Q	530	ENSP00000261537:R530Q	ENSP00000261537:R530Q	R	+	2	0	MIB1	17649684	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.948000	0.87774	2.425000	0.82216	0.655000	0.94253	CGA		0.438	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		A	19395686	G	A	19395686	3	1	148	1	0	0	0	0	1	0	0	0	9566	1058	37	2	1631	2	MIB1	18	19395686	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12164132	19395686	58681562	65	10134											
SERPINB11	89778	broad.mit.edu	37	chr18	61377523	61377523	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataacatcttcttttcttcGctgagtctgctttatgctct	6	19	6	10	1	5	1	0	1	5	0	6	2	5	1	0	0	3	3	0	0	2	7			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:61377523G>A	ENST00000382749.5	+	0	341				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTTCTTCGCTGAGTCTGC	0.433																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.4																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6						c.(94-96)tcG>tcA		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.							127	118	121					18																	61377523		1915	4144	6059			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61377523G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377523G>A						SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Silent_p.S32S	p.S32S	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			1	267	+		Esophageal squamous(42;0.129)	32					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Silent	SNP	ENST00000382749.5	37	c.96G>A																																																																																					0.433	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		A	61377523	G	A	61377523	1	1	148	0	1	0	0	0	0	0	0	0	14098	1074	38	1		1	SERPINB11	18	61377523	RNA	SNP	G	TCGA-16-0846-01A-01W-0424-08	41981837	61377523	16699725	66	10135											
SALL3	27164	broad.mit.edu	37	chr18	76753193	76753193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaccgcaagggcaagcCgcccaatgtgtcggtgttcg	9	6	14	12	4	0	0	0	0	0	0	2	1	0	0	3	2	2	4	3	2	4	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:76753193C>T	ENST00000537592.2	+	2	1202	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	SALL3_ENST00000575389.2_Missense_Mutation_p.P401L|SALL3_ENST00000536229.3_Missense_Mutation_p.P268L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	401					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAGGGCAAGCCGCCCAATGTG	0.662																																						uc002lmt.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1201-1203)cCg>cTg		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							21	17	18					18																	76753193		2202	4299	6501	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753193C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1202C>T	18.37:g.76753193C>T	ENSP00000441823:p.Pro401Leu					SALL3_uc010dra.3_Missense_Mutation_p.P8L	p.P401L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1202	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	401					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1202C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880913	0.33255	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12039	2.72	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000035	T	0.27313	0.0670	M	0.72576	2.205	0.80722	D	1	D;P	0.56968	0.978;0.822	P;B	0.50162	0.633;0.263	T	0.06917	-1.0800	10	0.56958	D	0.05	-34.9402	17.489	0.87698	0.0:1.0:0.0:0.0	.	133;401	F5GXY4;Q9BXA9	.;SALL3_HUMAN	L	401;401;133	ENSP00000441823:P401L	ENSP00000299466:P401L	P	+	2	0	SALL3	74854181	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.635000	0.67841	2.352000	0.79861	0.460000	0.39030	CCG		0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		T	76753193	C	T	76753193	3	4	148	1	0	0	0	0	1	0	0	0	13812	652	23	2	1208	2	SALL3	18	76753193	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	15375670	76753193	1324055	67	10136											
HCN2	610	broad.mit.edu	37	chr19	605149	605149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgctctgccactgggacgGctgcctgcagttcctggtgc	3	10	14	14	1	1	0	0	0	1	0	2	1	2	1	3	3	5	5	3	3	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:605149G>A	ENST00000251287.2	+	3	1198	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	382					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGGACGGCTGCCTGCAG	0.617																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.3																			0				endometrium(5)|lung(4)	9						c.(1144-1146)gGc>gAc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.							98	78	84					19																	605149		2203	4298	6501	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:605149G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1145G>A	19.37:g.605149G>A	ENSP00000251287:p.Gly382Asp						p.G382D	NM_001194	NP_001185	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1198	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	382					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1145G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.864884	0.91511	.	.	ENSG00000099822	ENST00000251287	D	0.97752	-4.52	3.68	3.68	0.42216	Ion transport (1);	.	.	.	.	D	0.98877	0.9620	M	0.92367	3.3	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99537	1.0962	9	0.87932	D	0	.	14.3497	0.66691	0.0:0.0:1.0:0.0	.	382	Q9UL51	HCN2_HUMAN	D	382	ENSP00000251287:G382D	ENSP00000251287:G382D	G	+	2	0	HCN2	556149	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.631000	0.98424	1.766000	0.52107	0.394000	0.25966	GGC		0.617	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		A	605149	G	A	605149	3	1	148	1	0	0	0	0	1	0	0	0	6997	1203	42	3	1155	3	HCN2	19	605149	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		605149	58523834	68	10137											
REEP6	92840	broad.mit.edu	37	chr19	1496383	1496383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcctaaggcaccacgggGccgtagacagaatcatgaac	12	7	11	11	2	1	3	1	1	0	2	2	3	2	3	3	3	1	3	3	3	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1496383G>T	ENST00000233596.3	+	4	552	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	150			A -> D (in dbSNP:rs2271412).		regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCACGGGGCCGTAGACAG	0.657																																						uc002ltc.3																			0				lung(1)|ovary(1)	2						c.(448-450)Gcc>Tcc		Homo sapiens receptor accessory protein 6 (REEP6), mRNA.							69	68	68					19																	1496383		2203	4299	6502	SO:0001583	missense	92840					integral to membrane		g.chr19:1496383G>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.448G>T	19.37:g.1496383G>T	ENSP00000233596:p.Ala150Ser						p.A150S	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	552	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	150		A -> D (in dbSNP:rs2271412).			B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.448G>T	CCDS12070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.125|0.125	-1.120528|-1.120528	0.01785|0.01785	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	T|.	0.41400|.	1.0|.	4.97|4.97	-0.974|-0.974	0.10293|0.10293	.|.	.|.	.|.	.|.	.|.	T|T	0.23330|0.23330	0.0564|0.0564	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.20780|.	0.048|.	B|.	0.20184|.	0.028|.	T|T	0.28490|0.28490	-1.0042|-1.0042	9|6	0.09590|0.49607	T|T	0.72|0.09	-3.4721|-3.4721	4.355|4.355	0.11174|0.11174	0.0754:0.2242:0.4438:0.2566|0.0754:0.2242:0.4438:0.2566	.|.	150|.	Q96HR9|.	REEP6_HUMAN|.	S|V	150|217	ENSP00000233596:A150S|.	ENSP00000233596:A150S|ENSP00000378865:G217V	A|G	+|+	1|2	0|0	REEP6|REEP6	1447383|1447383	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.007000|0.007000	0.05969|0.05969	0.270000|0.270000	0.18607|0.18607	0.094000|0.094000	0.17404|0.17404	-0.330000|-0.330000	0.08379|0.08379	GCC|GGC		0.657	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		T	1496383	G	T	1496383	3	4	148	1	0	0	0	0	1	0	0	0	13209	1203	42	5	462	5	REEP6	19	1496383	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	891234	1496383	57632600	69	10138											
ADAT3	113179	broad.mit.edu	37	chr19	1912807	1912807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcgcggccagggccGcggcacctacgacttcagac	6	4	15	16	7	1	1	1	0	0	1	1	2	1	1	3	4	1	1	3	4	1	2	rs556568423	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1912807G>T	ENST00000602400.1	+	2	941	c.713G>T	c.(712-714)cGc>cTc	p.R238L	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.R254L			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	238					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGGGCCGCGGCACCTAC	0.741																																						uc002luh.3																			0				breast(1)|kidney(3)|pancreas(1)|skin(2)	7						c.(712-714)cGc>cTc		Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.							5	7	6					19																	1912807		2009	3949	5958	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1912807G>T	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.713G>T	19.37:g.1912807G>T	ENSP00000473571:p.Arg238Leu					SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Missense_Mutation_p.R238L	p.R238L	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	985	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	238						Missense_Mutation	SNP	ENST00000602400.1	37	c.713G>T		.	.	.	.	.	.	.	.	.	.	g	12.10	1.835699	0.32421	.	.	ENSG00000213638	ENST00000329478	.	.	.	4.81	3.77	0.43336	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.125944	0.49305	D	0.000141	T	0.54271	0.1848	M	0.62088	1.915	0.36315	D	0.857878	P	0.34815	0.47	B	0.36922	0.236	T	0.61242	-0.7102	9	0.39692	T	0.17	-17.1185	10.8414	0.46718	0.0937:0.0:0.9063:0.0	.	238	Q96EY9	ADAT3_HUMAN	L	238	.	ENSP00000332448:R238L	R	+	2	0	ADAT3	1863807	1.000000	0.71417	0.433000	0.26760	0.145000	0.21501	6.963000	0.76055	1.024000	0.39682	0.549000	0.68633	CGC		0.741	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		T	1912807	G	T	1912807	3	4	148	1	0	0	0	0	1	0	0	0	286	1087	38	5	715	5	ADAT3	19	1912807	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	416424	1912807	57216176	70	10139											
ILF3	3609	broad.mit.edu	37	chr19	10794068	10794068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggatggacagaagttccaAggtgctggttccaacaaaaa	14	8	12	7	0	0	1	0	0	0	1	2	3	2	3	2	4	2	3	2	4	5	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:10794068A>G	ENST00000590261.1	+	14	1701	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q	ILF3_ENST00000592763.1_Silent_p.Q571Q|ILF3_ENST00000318511.3_Silent_p.Q567Q|ILF3_ENST00000420083.1_Silent_p.Q567Q|ILF3_ENST00000588657.1_Silent_p.Q571Q|ILF3_ENST00000407004.3_Silent_p.Q571Q|ILF3_ENST00000589998.1_Silent_p.Q567Q|ILF3_ENST00000250241.8_Silent_p.Q567Q|ILF3_ENST00000449870.1_Silent_p.Q571Q			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	567	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGTTCCAAGGTGCTGGTT	0.572																																						uc002mpn.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1699-1701)caA>caG		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.							76	72	73					19																	10794068		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10794068A>G	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1701A>G	19.37:g.10794068A>G						ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc002mpo.3_Silent_p.Q571Q|ILF3_uc002mpp.3_Silent_p.Q392Q|ILF3_uc002mpq.3_5'Flank	p.Q567Q	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		14	2018	+			567			DRBM 2.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1701A>G	CCDS12246.1																																																																																				0.572	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			G	10794068	A	G	10794068	2	3	148	1	0	0	0	0	0	0	0	1	7712	69	3	4		4	ILF3	19	10794068	Silent	SNP	A	TCGA-16-0846-01A-01W-0424-08	8881261	10794068	48334915	71	10140											
OR10H5	284433	broad.mit.edu	37	chr19	15905136	15905136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccacccagcgctccatcgCcttcctggcctgtgccagtc	4	9	9	19	2	0	0	0	0	0	0	5	0	3	0	7	1	2	1	7	1	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:15905136C>T	ENST00000308940.8	+	1	376	c.278C>T	c.(277-279)gCc>gTc	p.A93V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CGCTCCATCGCCTTCCTGGCC	0.607																																						uc010xos.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(277-279)gCc>gTc		Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.							87	76	80					19																	15905136		2203	4296	6499	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905136C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.278C>T	19.37:g.15905136C>T	ENSP00000310704:p.Ala93Val						p.A93V	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			0	278	+			93					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.278C>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	11.38	1.622396	0.28889	.	.	ENSG00000172519	ENST00000308940	D	0.83755	-1.76	3.47	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	1.462660	0.04425	N	0.368249	T	0.80116	0.4564	L	0.47190	1.495	0.09310	N	1	B	0.31174	0.311	B	0.29524	0.103	T	0.66941	-0.5796	10	0.87932	D	0	.	10.5195	0.44910	0.0:0.8002:0.1998:0.0	.	93	Q8NGA6	O10H5_HUMAN	V	93	ENSP00000310704:A93V	ENSP00000310704:A93V	A	+	2	0	OR10H5	15766136	0.001000	0.12720	0.006000	0.13384	0.499000	0.33736	1.530000	0.36007	0.539000	0.28788	-0.291000	0.09656	GCC		0.607	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			T	15905136	C	T	15905136	3	4	148	1	0	0	0	0	1	0	0	0	10909	739	26	3	280	3	OR10H5	19	15905136	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	5111068	15905136	43223847	72	10141											
MYO9B	4650	broad.mit.edu	37	chr19	17312748	17312748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccagataaatgacctccGttcccagaagacgcccattg	11	9	7	14	2	0	4	0	1	0	3	3	4	3	4	5	0	0	1	5	0	3	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:17312748G>A	ENST00000594824.1	+	27	4724	c.4577G>A	c.(4576-4578)cGt>cAt	p.R1526H	MYO9B_ENST00000595618.1_Missense_Mutation_p.R1526H|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1526H			Q13459	MYO9B_HUMAN	myosin IXB	1526	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AATGACCTCCGTTCCCAGAAG	0.572																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4576-4578)cGt>cAt		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							66	66	66					19																	17312748		1954	4156	6110	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17312748G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4577G>A	19.37:g.17312748G>A	ENSP00000471367:p.Arg1526His					MYO9B_uc002nfi.3_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	p.R1526H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			26	4729	+			1526			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4577G>A		.	.	.	.	.	.	.	.	.	.	G	19.78	3.890774	0.72524	.	.	ENSG00000099331	ENST00000397274	D	0.84800	-1.9	4.82	4.82	0.62117	.	0.229485	0.30969	N	0.008505	D	0.88771	0.6527	L	0.59436	1.845	0.42968	D	0.994427	D;D;D;D	0.76494	0.996;0.999;0.996;0.998	P;D;P;P	0.64144	0.77;0.922;0.77;0.839	D	0.89146	0.3520	10	0.59425	D	0.04	.	10.522	0.44924	0.0894:0.0:0.9106:0.0	.	1526;1526;1526;1532	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	H	1526	ENSP00000380444:R1526H	ENSP00000380444:R1526H	R	+	2	0	MYO9B	17173748	1.000000	0.71417	0.937000	0.37676	0.655000	0.38815	4.109000	0.57824	2.226000	0.72624	0.491000	0.48974	CGT		0.572	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17312748	G	A	17312748	3	1	148	1	0	0	0	0	1	0	0	0	10085	1145	40	1	4679	1	MYO9B	19	17312748	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1407612	17312748	41816235	73	10142											
PIK3R2	5296	broad.mit.edu	37	chr19	18280016	18280016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcactaccagcacgcctCgctggtgcagcacaacgacg	9	5	11	16	4	0	0	0	0	0	0	1	1	0	0	2	1	6	6	2	1	2	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:18280016C>T	ENST00000593731.1	+	16	2659	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S700L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	700	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CAGCACGCCTCGCTGGTGCAG	0.721																																						uc002nia.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(2098-2100)tCg>tTg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.							21	20	21					19																	18280016		2198	4295	6493	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18280016C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2099C>T	19.37:g.18280016C>T	ENSP00000471914:p.Ser700Leu					PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	p.S700L	NM_005027	NP_005018	O00459	P85B_HUMAN			15	2611	+			700			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.2099C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561918	0.96527	.	.	ENSG00000105647	ENST00000222254	T	0.54279	0.58	3.99	3.99	0.46301	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84339	0.0526	10	0.87932	D	0	-21.773	15.912	0.79479	0.0:1.0:0.0:0.0	.	700	O00459	P85B_HUMAN	L	700	ENSP00000222254:S700L	ENSP00000222254:S700L	S	+	2	0	PIK3R2	18141016	1.000000	0.71417	0.766000	0.31476	0.971000	0.66376	7.621000	0.83083	2.181000	0.69327	0.462000	0.41574	TCG		0.721	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		T	18280016	C	T	18280016	3	4	148	1	0	0	0	0	1	0	0	0	11919	893	31	2	2157	2	PIK3R2	19	18280016	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	967268	18280016	40848967	74	10143											
TSHZ3	57616	broad.mit.edu	37	chr19	31769684	31769685	+	Frame_Shift_Ins	INS	-	-	T																															atggtggctttgggggttccINSacctgtggaatctggggagc																										TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:31769684_31769685insT	ENST00000240587.4	-	2	1341_1342	c.1014_1015insA	c.(1012-1017)ggtggafs	p.G339fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	339					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGGGGGTTCCACCTGTGGAAT	0.564																																						uc002nsy.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1012-1017)ggtggafs		Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769684_31769685insT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1014_1015insA	19.37:g.31769684_31769685insT	ENSP00000240587:p.Gly339fs						p.G338fs	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			1	1079_1080	-	Esophageal squamous(110;0.226)		338					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1014_1015insA	CCDS12421.2																																																																																				0.564	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31769685	-	T	31769684	7	5	148	1	0	1	1	0	0	0	0	0	16622	603	21	0	2234	0	TSHZ3	19	31769684	Frame_Shift_Ins	INS	-	TCGA-16-0846-01A-01W-0424-08	13489668	31769684	27359299	75	10144											
SLC7A10	56301	broad.mit.edu	37	chr19	33706697	33706697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccaggcccccgaagatctCtgtgacgtaggcgtagtccc	8	7	12	14	3	1	2	0	1	1	1	3	3	2	2	4	2	1	2	4	2	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:33706697C>T	ENST00000253188.4	-	2	480	c.334G>A	c.(334-336)Gag>Aag	p.E112K	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	112			E -> D (in a family with cystinuria; dbSNP:rs79717007). {ECO:0000269|PubMed:11509015}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCGAAGATCTCTGTGACGTAG	0.657																																						uc002num.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(334-336)Gag>Aag		Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.							36	31	33					19																	33706697		2169	4275	6444	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33706697C>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.334G>A	19.37:g.33706697C>T	ENSP00000253188:p.Glu112Lys					SLC7A10_uc010xrq.2_Intron	p.E112K	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN			1	481	-	Esophageal squamous(110;0.137)		112		E -> D (in a family with cystinuria).			B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.334G>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358888	0.95854	.	.	ENSG00000130876	ENST00000253188	D	0.89875	-2.58	4.79	4.79	0.61399	Amino acid permease domain (1);	0.111156	0.64402	D	0.000010	D	0.88548	0.6466	L	0.46885	1.475	0.80722	D	1	P	0.35575	0.51	B	0.42593	0.392	D	0.89143	0.3518	10	0.56958	D	0.05	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	112	Q9NS82	AAA1_HUMAN	K	112	ENSP00000253188:E112K	ENSP00000253188:E112K	E	-	1	0	SLC7A10	38398537	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	7.818000	0.86416	2.240000	0.73641	0.456000	0.33151	GAG		0.657	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		T	33706697	C	T	33706697	3	4	148	1	0	0	0	0	1	0	0	0	14693	922	32	3	1277	3	SLC7A10	19	33706697	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	1937013	33706697	25422286	76	10145											
FAM71E1	112703	broad.mit.edu	37	chr19	50979619	50979619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggagggggcggctcctgGagatcaggccaaaggggcgg	7	4	20	10	2	1	1	1	0	0	1	2	3	2	2	3	9	0	1	3	9	1	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:50979619G>A	ENST00000600100.1	-	1	391	c.27C>T	c.(25-27)ctC>ctT	p.L9L	FAM71E1_ENST00000595790.1_Silent_p.L9L|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	9										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCGGCTCCTGGAGATCAGGCC	0.682																																						uc002psh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(25-27)ctC>ctT		Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.							21	23	23					19																	50979619		2196	4280	6476	SO:0001819	synonymous_variant	112703							g.chr19:50979619G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.27C>T	19.37:g.50979619G>A						FAM71E1_uc002psg.3_Silent_p.L9L|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	p.L9L	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	0	385	-		all_neural(266;0.131)	9					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.27C>T																																																																																					0.682	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			A	50979619	G	A	50979619	2	1	148	1	0	0	0	0	0	0	0	1	5611	1161	41	3		3	FAM71E1	19	50979619	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	17272922	50979619	8149364	77	10146											
ZNF776	284309	broad.mit.edu	37	chr19	58265771	58265771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcactgaacaccagagaGttcacactggagaaaggcca	15	5	9	12	0	2	3	2	1	0	2	2	5	2	3	3	2	1	1	3	2	2	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:58265771G>T	ENST00000317178.5	+	3	1536	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ACACCAGAGAGTTCACACTGG	0.428																																						uc002qpx.3																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1273-1275)Gtt>Ttt		Homo sapiens zinc finger protein 776 (ZNF776), mRNA.							124	118	120					19																	58265771		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265771G>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1273G>T	19.37:g.58265771G>T	ENSP00000321812:p.Val425Phe					ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.V425F	p.V425F	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	1496	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	440					Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1273G>T	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344284	0.61073	.	.	ENSG00000152443	ENST00000317178	T	0.08102	3.13	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	L	0.56769	1.78	0.19300	N	0.999976	D;D	0.76494	0.997;0.999	D;D	0.73708	0.969;0.981	T	0.08046	-1.0741	9	0.87932	D	0	.	4.8787	0.13668	0.5056:0.3241:0.1703:0.0	.	425;425	Q68DI1;B4DSC6	ZN776_HUMAN;.	F	425	ENSP00000321812:V425F	ENSP00000321812:V425F	V	+	1	0	ZNF776	62957583	0.000000	0.05858	0.009000	0.14445	0.790000	0.44656	-1.254000	0.02874	-0.871000	0.04042	0.313000	0.20887	GTT		0.428	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		T	58265771	G	T	58265771	3	4	148	1	0	0	0	0	1	0	0	0	18146	1029	36	5	1283	5	ZNF776	19	58265771	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	7286152	58265771	863212	78	10147											
SEL1L2	80343	broad.mit.edu	37	chr20	13830942	13830942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgagcagccatgtcgtaCaatcttctggccaagtgaat	10	12	10	9	1	2	2	0	2	2	0	3	2	2	2	2	1	3	3	2	1	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:13830942C>A	ENST00000284951.5	-	19	1916	c.1842G>T	c.(1840-1842)ttG>ttT	p.L614F	SEL1L2_ENST00000378072.5_Missense_Mutation_p.L501F|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	614						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATGTCGTACAATCTTCTGG	0.453																																						uc010gcf.3																			0		p.R613K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1840-1842)ttG>ttT		Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.							99	98	98					20																	13830942		1978	4160	6138	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830942C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1842G>T	20.37:g.13830942C>A	ENSP00000284951:p.Leu614Phe					SEL1L2_uc002woq.4_Missense_Mutation_p.L475F|SEL1L2_uc010zrl.2_Missense_Mutation_p.L501F|SEL1L2_uc002wor.3_Non-coding_Transcript	p.L614F	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			18	1924	-			614					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1842G>T		.	.	.	.	.	.	.	.	.	.	C	6.373	0.436882	0.12104	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.55760	0.67;0.5	5.97	-3.07	0.05363	Tetratricopeptide-like helical (1);	0.000000	0.47852	D	0.000206	T	0.31827	0.0809	N	0.16903	0.455	0.37732	D	0.925308	B;P	0.42296	0.091;0.775	B;P	0.46718	0.042;0.525	T	0.42716	-0.9435	10	0.07030	T	0.85	-6.3176	8.3542	0.32321	0.0:0.3807:0.1066:0.5127	.	501;614	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	F	501;614	ENSP00000367312:L501F;ENSP00000284951:L614F	ENSP00000284951:L614F	L	-	3	2	SEL1L2	13778942	0.906000	0.30813	0.952000	0.39060	0.663000	0.39108	-0.371000	0.07513	-0.894000	0.03925	-1.631000	0.00782	TTG		0.453	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13830942	C	A	13830942	3	1	148	1	0	0	0	0	1	0	0	0	14011	477	17	5	232	5	SEL1L2	20	13830942	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		13830942	49194578	79	10148											
ZBP1	81030	broad.mit.edu	37	chr20	56190589	56190589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgttgttggctgaactgagGgccaggggtctctggaattg	6	11	16	8	1	1	2	0	2	1	0	2	3	1	3	2	5	1	3	2	5	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:56190589G>A	ENST00000371173.3	-	3	484	c.307C>T	c.(307-309)Cct>Tct	p.P103S	ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.P103S|ZBP1_ENST00000343535.4_Missense_Mutation_p.P103S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P28S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	103					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTGAACTGAGGGCCAGGGGTC	0.592																																						uc002xyo.3																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(307-309)Cct>Tct		Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.							120	104	110					20																	56190589		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56190589G>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.307C>T	20.37:g.56190589G>A	ENSP00000360215:p.Pro103Ser					ZBP1_uc010gjm.3_Missense_Mutation_p.P103S|ZBP1_uc002xyp.3_Missense_Mutation_p.P28S|ZBP1_uc010zzn.2_Missense_Mutation_p.P103S	p.P103S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		2	588	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		103					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.307C>T	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728719	0.30593	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.13307	3.1;2.77;3.05;2.6	3.46	-3.05	0.05396	.	1.753190	0.03336	N	0.194055	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.22080	0.055;0.033;0.064;0.064	B;B;B;B	0.17722	0.015;0.007;0.019;0.012	T	0.29058	-1.0024	10	0.19147	T	0.46	1.5639	4.1658	0.10306	0.3697:0.332:0.2983:0.0	.	103;103;28;103	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	S	103;28;103;103;103	ENSP00000360215:P103S;ENSP00000379167:P28S;ENSP00000340584:P103S;ENSP00000440552:P103S	ENSP00000340584:P103S	P	-	1	0	ZBP1	55623995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.621000	0.05559	-0.571000	0.06014	0.655000	0.94253	CCT		0.592	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		A	56190589	G	A	56190589	3	1	148	1	0	0	0	0	1	0	0	0	17518	1232	43	3	1083	3	ZBP1	20	56190589	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	42359647	56190589	6834931	80	10149											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578306	37578306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtagatggcgttctcGcgctggcgcttgaagagccg	5	11	15	10	5	1	3	0	1	1	2	2	3	1	3	1	2	2	5	1	2	2	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:37578306G>A	ENST00000337843.2	-	3	834	c.759C>T	c.(757-759)cgC>cgT	p.R253R	C1QTNF6_ENST00000397110.2_Silent_p.R253R|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.R129R	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCGTTCTCGCGCTGGCGCT	0.652																																						uc003aqx.1																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(757-759)cgC>cgT		Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.							78	68	71					22																	37578306		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578306G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.759C>T	22.37:g.37578306G>A						C1QTNF6_uc003aqw.1_Silent_p.R234R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_Non-coding_Transcript	p.R253R	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	1022	-			234			C1q.		Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.759C>T	CCDS13943.1																																																																																				0.652	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		A	37578306	G	A	37578306	2	1	148	1	0	0	0	0	0	0	0	1	1967	1074	38	1		1	C1QTNF6	22	37578306	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		37578306	13726260	81	10150											
SH3BP1	23616	broad.mit.edu	37	chr22	38046222	38046222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggcgtcgtcgaggcGctgatccagagcgcagacac	7	6	17	11	5	0	3	0	1	0	2	3	4	1	3	1	3	1	2	1	3	0	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:38046222G>A	ENST00000357436.4	+	15	1693	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	SH3BP1_ENST00000599616.1_Silent_p.A396A|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R493H|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	460	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.A460A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGTCGAGGCGCTGATCCAGA	0.632																																						uc011anl.1																			1	Substitution - coding silent(1)	p.A460A(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1477-1479)cGc>cAc		Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.							46	38	41					22																	38046222		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38046222G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1380G>A	22.37:g.38046222G>A						SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003ati.3_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|AK097791_uc003atl.1_Intron	p.R493H			Q9Y3L3	3BP1_HUMAN			15	2216	+	Melanoma(58;0.0574)		615					Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.1478G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763860	0.31228	.	.	ENSG00000100092	ENST00000442465	T	0.16324	2.35	5.65	-5.7	0.02421	.	.	.	.	.	T	0.09291	0.0229	.	.	.	0.46499	D	0.999074	B	0.02656	0.0	B	0.04013	0.001	T	0.27673	-1.0067	8	0.87932	D	0	.	1.1528	0.01790	0.1865:0.2348:0.1383:0.4405	.	493	F5GZA8	.	H	493	ENSP00000395126:R493H	ENSP00000395126:R493H	R	+	2	0	SH3BP1	36376168	0.000000	0.05858	0.865000	0.33974	0.498000	0.33706	-1.256000	0.02869	-0.789000	0.04498	0.563000	0.77884	CGC		0.632	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		A	38046222	G	A	38046222	2	1	148	1	0	0	0	0	0	0	0	1	14244	1074	38	1		1	SH3BP1	22	38046222	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	467916	38046222	13258344	82	10151											
SMC1B	27127	broad.mit.edu	37	chr22	45754668	45754668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtactttctgcttcaGttcccatctgaaaaatatgt	9	15	7	10	0	3	1	1	1	2	0	4	1	4	1	2	1	2	3	2	1	4	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:45754668G>A	ENST00000357450.4	-	19	2869	c.2870C>T	c.(2869-2871)aCt>aTt	p.T957I	SMC1B_ENST00000404354.3_Missense_Mutation_p.T957I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	957					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTGCTTCAGTTCCCATCTG	0.343																																						uc003bgc.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2869-2871)aCt>aTt		Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.							109	100	103					22																	45754668		1841	4088	5929	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45754668G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2870C>T	22.37:g.45754668G>A	ENSP00000350036:p.Thr957Ile					SMC1B_uc003bgd.3_Missense_Mutation_p.T957I	p.T957I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	18	2922	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	957					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2870C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273898	0.40194	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79247	-1.25;-1.12	6.07	3.87	0.44632	.	0.616415	0.14845	N	0.295037	T	0.76765	0.4033	L	0.49350	1.555	0.26223	N	0.979137	P;B	0.40000	0.698;0.01	P;B	0.44946	0.465;0.012	T	0.67488	-0.5658	10	0.35671	T	0.21	.	13.333	0.60500	0.0:0.1215:0.752:0.1265	.	957;957	Q8NDV3-2;Q8NDV3-3	.;.	I	957	ENSP00000350036:T957I;ENSP00000385902:T957I	ENSP00000350036:T957I	T	-	2	0	SMC1B	44133332	0.952000	0.32445	0.768000	0.31515	0.976000	0.68499	3.504000	0.53347	1.541000	0.49316	0.650000	0.86243	ACT		0.343	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		A	45754668	G	A	45754668	3	1	148	1	0	0	0	0	1	0	0	0	14782	1029	36	3	865	3	SMC1B	22	45754668	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	7708446	45754668	5549898	83	10152											
DMD	1756	broad.mit.edu	37	chrX	32429932	32429932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataagctgccaactgcttGtcaatgaatgtgagggactc	12	11	10	8	0	1	2	1	2	0	0	2	3	1	3	1	1	4	2	1	1	5	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:32429932G>C	ENST00000357033.4	-	30	4376	c.4170C>G	c.(4168-4170)gaC>gaG	p.D1390E	DMD_ENST00000378677.2_Missense_Mutation_p.D1386E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1390					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAACTGCTTGTCAATGAATG	0.473																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4168-4170)gaC>gaG		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							125	94	104					X																	32429932		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32429932G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4170C>G	X.37:g.32429932G>C	ENSP00000354923:p.Asp1390Glu					DMD_uc004dcw.2_Missense_Mutation_p.D46E|DMD_uc004dcx.2_Missense_Mutation_p.D49E|DMD_uc004dcz.2_Missense_Mutation_p.D1267E|DMD_uc004dcy.1_Missense_Mutation_p.D1386E|DMD_uc004ddb.1_Missense_Mutation_p.D1382E|DMD_uc010ngo.1_Intron	p.D1390E	NM_004006	NP_004001	P11532	DMD_HUMAN			29	4414	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1390					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4170C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419724	0.62622	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.25250	1.81;1.81	5.68	4.63	0.57726	.	0.000000	0.36740	U	0.002431	T	0.43942	0.1270	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	0.99;1.0;0.984;0.984;0.984	D;D;D;D;D	0.87578	0.986;0.998;0.967;0.967;0.967	T	0.24977	-1.0145	10	0.12766	T	0.61	.	12.143	0.54008	0.1494:0.0:0.8506:0.0	.	1382;1390;1386;49;46	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	1382;49;46;1386;1390;1390;1267	ENSP00000367948:D1386E;ENSP00000354923:D1390E	ENSP00000354923:D1390E	D	-	3	2	DMD	32339853	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.349000	0.52217	2.381000	0.81170	0.506000	0.49869	GAC		0.473	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32429932	G	C	32429932	3	2	148	1	0	0	0	0	1	0	0	0	4580	1368	48	5	7235	5	DMD	23	32429932	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		32429932	122840628	84	10153											
USP11	8237	broad.mit.edu	37	chrX	47104414	47104414	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctccctcacccccaGcccagccgtacattgctatc	7	8	4	22	1	2	0	1	0	1	0	4	0	2	0	7	0	4	2	7	0	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:47104414G>C	ENST00000218348.3	+	16	2215		c.e16-1		USP11_ENST00000377107.2_Splice_Site	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567																																						uc004dhp.3																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.e16-1		Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.							60	53	55					X																	47104414		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104414G>C	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2216-1G>C	X.37:g.47104414G>C						USP11_uc004dhq.3_Splice_Site_p.A465_splice	p.A739_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN			16	2216	+			739					B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.2216_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301102	0.40694	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP11	46989358	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.210000	0.89753	2.166000	0.68216	0.513000	0.50165	.		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Intron	C	47104414	G	C	47104414	5	2	148	1	0	0	0	0	0	0	1	0	17039	985	34	5	2277	5	USP11	23	47104414	Splice_Site	SNP	G	TCGA-16-0846-01A-01W-0424-08	14674482	47104414	108166146	85	10154											
PCDH11X	27328	broad.mit.edu	37	chrX	91133526	91133526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggacagcctgattctctcTtcagtgttgtaattgtcaat	9	16	8	8	0	4	1	2	1	2	0	5	2	4	2	1	1	1	2	1	1	3	6			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:91133526T>A	ENST00000373094.1	+	2	3132	c.2287T>A	c.(2287-2289)Ttc>Atc	p.F763I	PCDH11X_ENST00000395337.2_Missense_Mutation_p.F763I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F763I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F763I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F763I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F763I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	763	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATTCTCTCTTCAGTGTTGT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2287-2289)Ttc>Atc		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							132	115	121					X																	91133526		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133526T>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2287T>A	X.37:g.91133526T>A	ENSP00000362186:p.Phe763Ile					PCDH11X_uc004efl.2_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.2_Missense_Mutation_p.F763I|PCDH11X_uc004efm.2_Missense_Mutation_p.F763I|PCDH11X_uc004efn.2_Missense_Mutation_p.F763I|PCDH11X_uc004efo.2_Missense_Mutation_p.F763I|PCDH11X_uc004efh.2_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	p.F763I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	3132	+			763			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2287T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040752	0.35989	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.76	3.43	0.39272	Cadherin (4);Cadherin-like (1);	0.270585	0.37623	N	0.002013	T	0.34164	0.0888	N	0.10837	0.055	0.27274	N	0.958291	P;P;P;P;P;P;P;P	0.51240	0.696;0.788;0.93;0.93;0.93;0.943;0.696;0.696	B;P;P;P;P;P;B;B	0.52424	0.433;0.452;0.572;0.572;0.572;0.698;0.433;0.433	T	0.07770	-1.0755	10	0.46703	T	0.11	.	5.3244	0.15898	0.1735:0.097:0.0:0.7294	.	763;763;763;763;763;763;763;763	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	763	ENSP00000378746:F763I;ENSP00000362186:F763I;ENSP00000362189:F763I;ENSP00000355040:F763I;ENSP00000362180:F763I;ENSP00000423762:F763I;ENSP00000355105:F763I;ENSP00000384758:F763I;ENSP00000298274:F763I	ENSP00000298274:F763I	F	+	1	0	PCDH11X	91020182	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	3.163000	0.50763	1.555000	0.49500	0.437000	0.28790	TTC		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91133526	T	A	91133526	3	1	148	1	0	0	0	0	1	0	0	0	11508	1609	56	5	2293	5	PCDH11X	23	91133526	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	44029112	91133526	64137034	86	10155											
GABRE	2564	broad.mit.edu	37	chrX	151124002	151124002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaattcttacgagaaaaGgtgcccaacgtggtcatggt	12	9	13	7	2	2	1	1	0	1	1	2	3	2	2	1	4	3	0	1	4	5	2	rs483352728		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:151124002G>T	ENST00000370328.3	-	8	1028	c.975C>A	c.(973-975)acC>acA	p.T325T	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Silent_p.T325T	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	325					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACGAGAAAAGGTGCCCAACG	0.493																																						uc004ffi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(973-975)acC>acA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.							118	101	107					X																	151124002		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124002G>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.975C>A	X.37:g.151124002G>T						GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	p.T325T	NM_004961	NP_004952	P78334	GBRE_HUMAN			7	1029	-	Acute lymphoblastic leukemia(192;6.56e-05)		325					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.975C>A	CCDS14703.1																																																																																				0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151124002	G	T	151124002	2	4	148	1	0	0	0	0	0	0	0	1	6170	987	35	5		5	GABRE	23	151124002	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	59990476	151124002	4146558	87	10156											
DNAJC6	9829	broad.mit.edu	37	chr1	65845142	65845142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcacaacctttttgctGtgtgtcggaatatgtataac	9	15	9	8	1	1	0	0	0	1	0	2	1	1	1	1	1	4	3	1	1	5	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:65845142G>A	ENST00000395325.3	+	5	587	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	DNAJC6_ENST00000371069.4_Missense_Mutation_p.V201M|DNAJC6_ENST00000263441.7_Missense_Mutation_p.V131M	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	144	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCTTTTTGCTGTGTGTCGGAA	0.458																																						uc001dce.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(601-603)Gtg>Atg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.							207	192	197					1																	65845142		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845142G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.430G>A	1.37:g.65845142G>A	ENSP00000378735:p.Val144Met					DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc001dcd.1_Missense_Mutation_p.V144M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M	p.V201M	NM_014787	NP_055602	O75061	AUXI_HUMAN			4	802	+			144			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.601G>A	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006833	0.93287	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98617	-5.03;-5.03;-5.03	5.41	5.41	0.78517	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79108	0.992;0.983;0.971	D	0.98968	1.0800	10	0.49607	T	0.09	.	19.3939	0.94598	0.0:0.0:1.0:0.0	.	201;144;131	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	M	131;144;201	ENSP00000263441:V131M;ENSP00000378735:V144M;ENSP00000360108:V201M	ENSP00000263441:V131M	V	+	1	0	DNAJC6	65617730	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.816000	0.96949	0.561000	0.74099	GTG		0.458	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			A	65845142	G	A	65845142	3	1	149	1	0	0	0	0	1	0	0	0	4653	1377	48	3	448	3	DNAJC6	1	65845142	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		65845142	183405479	1	10157											
VAV3	10451	broad.mit.edu	37	chr1	108417540	108417540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctttccaaagtcacgaaCatcaaacaagtcaaatgcct	16	9	4	12	1	3	0	3	0	0	0	4	1	4	0	3	0	4	0	3	0	6	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:108417540C>A	ENST00000370056.4	-	2	578	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	VAV3_ENST00000527011.1_Missense_Mutation_p.V102F|VAV3_ENST00000371846.4_Missense_Mutation_p.V37F	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	102	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCACGAACATCAAACAAG	0.358																																						uc001dvk.1																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(304-306)Gtt>Ttt		Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.							85	80	82					1																	108417540		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417540C>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.304G>T	1.37:g.108417540C>A	ENSP00000359073:p.Val102Phe					VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	p.V102F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	1	358	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	102			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.304G>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.900390|4.900390	0.92035|0.92035	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Calponin homology domain (5);	.|0.291885	.|0.33199	.|N	.|0.005171	T|T	0.61324|0.61324	0.2338|0.2338	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.69078	.|0.687;0.818;0.997	.|P;P;D	.|0.79784	.|0.868;0.832;0.993	T|T	0.60224|0.60224	-0.7305|-0.7305	5|10	.|0.56958	.|D	.|0.05	.|.	19.2273|19.2273	0.93822|0.93822	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|102;102;102	.|B7ZLR1;E9PQ97;Q9UKW4	.|.;.;VAV3_HUMAN	I|F	96|102;102;37	.|ENSP00000359073:V102F;ENSP00000432540:V102F;ENSP00000360912:V37F	.|ENSP00000359073:V102F	M|V	-|-	3|1	0|0	VAV3|VAV3	108219063|108219063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.302000|7.302000	0.78861|0.78861	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	ATG|GTT		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		A	108417540	C	A	108417540	3	1	149	1	0	0	0	0	1	0	0	0	17130	478	17	5	2368	5	VAV3	1	108417540	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	42572398	108417540	140833081	2	10158											
FLG	2312	broad.mit.edu	37	chr1	152284952	152284952	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatccatgggaggactCagactgtttatgagtgctca	9	12	11	9	0	2	2	2	1	0	1	4	4	4	4	2	2	1	2	2	2	1	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:152284952C>A	ENST00000368799.1	-	3	2445	c.2410G>T	c.(2410-2412)Gag>Tag	p.E804*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	804	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGAGGACTCAGACTGTTTA	0.572									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2410-2412)Gag>Tag		Homo sapiens filaggrin (FLG), mRNA.							254	247	249					1																	152284952		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284952C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2410G>T	1.37:g.152284952C>A	ENSP00000357789:p.Glu804*					AK056431_uc001ezv.3_5'Flank	p.E804*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2446	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		804			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.2410G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	36	5.693186	0.96793	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.15	0.909	0.19332	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	3.3467	0.07137	0.0:0.5035:0.3157:0.1808	.	.	.	.	X	804	.	ENSP00000357789:E804X	E	-	1	0	FLG	150551576	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.302000	0.02746	0.518000	0.28383	0.479000	0.44913	GAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152284952	C	A	152284952	4	1	149	1	0	0	0	0	0	1	0	0	5922	835	29	5	9779	5	FLG	1	152284952	Nonsense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	43867412	152284952	96965669	3	10159											
EHD3	30845	broad.mit.edu	37	chr2	31467312	31467312	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggcaacgccttcttgAacaggtgagtgtggagggaa	9	10	14	8	1	1	2	0	2	1	0	1	4	1	4	2	4	2	1	2	4	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:31467312A>T	ENST00000322054.5	+	2	685	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	EHD3_ENST00000541626.1_Missense_Mutation_p.N134Y	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	134	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGCCTTCTTGAACAGGTGAGT	0.537																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(400-402)Aac>Tac		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							108	86	94					2																	31467312		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31467312A>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.400A>T	2.37:g.31467312A>T	ENSP00000327116:p.Asn134Tyr					EHD3_uc010ymt.2_Missense_Mutation_p.N134Y	p.N134Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			1	1008	+	Acute lymphoblastic leukemia(172;0.155)		134					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.400A>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637663	0.87760	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.96967	-4.19;-4.19	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.76071	0.987;0.973	D	0.99686	1.1000	10	0.87932	D	0	-50.2284	15.9765	0.80071	1.0:0.0:0.0:0.0	.	134;134	B4DFR5;Q9NZN3	.;EHD3_HUMAN	Y	134	ENSP00000440685:N134Y;ENSP00000327116:N134Y	ENSP00000327116:N134Y	N	+	1	0	EHD3	31320816	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.172000	0.68678	0.533000	0.62120	AAC		0.537	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31467312	A	T	31467312	3	4	149	1	0	0	0	0	1	0	0	0	4979	246	9	5	406	5	EHD3	2	31467312	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08		31467312	211732061	4	10160											
BIRC6	57448	broad.mit.edu	37	chr2	32774411	32774411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacataaatcccgtcagtaGtgcggtaaatggagaagctc	13	10	10	8	2	1	1	1	0	0	1	3	2	2	1	1	2	3	3	1	2	7	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:32774411G>A	ENST00000421745.2	+	65	13141	c.13007G>A	c.(13006-13008)aGt>aAt	p.S4336N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4336					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCGTCAGTAGTGCGGTAAAT	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13006-13008)aGt>aAt		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							136	123	127					2																	32774411		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774411G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13007G>A	2.37:g.32774411G>A	ENSP00000393596:p.Ser4336Asn						p.S4336N	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			64	13141	+	Acute lymphoblastic leukemia(172;0.155)		4336					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13007G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979535	0.18812	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.67	5.67	0.87782	.	0.306960	0.35407	N	0.003231	T	0.60805	0.2297	N	0.14661	0.345	0.41513	D	0.988354	B	0.17667	0.023	B	0.18263	0.021	T	0.56038	-0.8045	10	0.15066	T	0.55	.	19.7806	0.96414	0.0:0.0:1.0:0.0	.	4336	Q9NR09	BIRC6_HUMAN	N	4336	ENSP00000393596:S4336N	ENSP00000393596:S4336N	S	+	2	0	BIRC6	32627915	1.000000	0.71417	0.672000	0.29872	0.163000	0.22366	7.235000	0.78143	2.669000	0.90835	0.650000	0.86243	AGT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32774411	G	A	32774411	3	1	149	1	0	0	0	0	1	0	0	0	1438	1029	36	3	13265	3	BIRC6	2	32774411	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1307099	32774411	210424962	5	10161											
TUBA3D	113457	broad.mit.edu	37	chr2	132237806	132237806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccaggtctccacagcCgtggtggagccctacaactc	7	6	10	18	1	1	0	0	0	1	0	3	1	1	1	6	3	4	0	6	3	2	1	rs544741714		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:132237806C>T	ENST00000321253.6	+	4	647	c.540C>T	c.(538-540)gcC>gcT	p.A180A	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	180					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCCACAGCCGTGGTGGAGC	0.547													.|||	1	0.000199681	0	0	5008	,	,		19829	0		0	False		,,,				2504	0.001				Ovarian(137;2059 2432 35543 39401)	uc002tsu.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(538-540)gcC>gcT		Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.							146	161	156					2																	132237806		2202	4299	6501	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237806C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.540C>T	2.37:g.132237806C>T							p.A180A	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	733	+			180					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.540C>T	CCDS33290.1																																																																																				0.547	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		T	132237806	C	T	132237806	2	4	149	1	0	0	0	0	0	0	0	1	16744	639	23	2		2	TUBA3D	2	132237806	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	99463395	132237806	110961567	6	10162											
LY75	4065	broad.mit.edu	37	chr2	160729003	160729003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaattcctttatttcAtccacatggctgaagctaga	13	13	7	8	0	1	4	1	2	0	2	3	4	3	4	2	1	1	2	2	1	5	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:160729003A>G	ENST00000263636.4	-	13	2103	c.2076T>C	c.(2074-2076)gaT>gaC	p.D692D	LY75-CD302_ENST00000504764.1_Silent_p.D692D|LY75_ENST00000554112.1_Silent_p.D692D|LY75_ENST00000553424.1_Silent_p.D692D|LY75-CD302_ENST00000505052.1_Silent_p.D692D	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	692	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.		D -> N (in dbSNP:rs1397706).		endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCTTTATTTCATCCACATGGC	0.378																																						uc002ubb.4																			0											c.(2074-2076)gaT>gaC		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.							122	132	129					2																	160729003		2203	4300	6503	SO:0001819	synonymous_variant	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160729003A>G	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2076T>C	2.37:g.160729003A>G						LY75-CD302_uc010fos.3_Silent_p.D692D|LY75-CD302_uc002ubc.4_Silent_p.D692D|LY75-CD302_uc010fot.2_Silent_p.D692D	p.D692D	NM_001198759	NP_001185688	O60449	LY75_HUMAN			12	2150	-			692		D -> N (in dbSNP:rs1397706).	C-type lectin 4.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.2076T>C	CCDS2211.1																																																																																				0.378	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			G	160729003	A	G	160729003	2	3	149	1	0	0	0	0	0	0	0	1	9099	214	8	4		4	LY75	2	160729003	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	28491197	160729003	82470370	7	10163											
PDE11A	50940	broad.mit.edu	37	chr2	178969184	178969184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtcttcttgcctgctTcagcatctcccatgttgctc	6	15	7	13	0	4	0	1	0	3	0	6	0	4	0	2	1	4	4	2	1	2	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:178969184T>C	ENST00000358450.4	-	2	105	c.7A>G	c.(7-9)Aag>Gag	p.K3E		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTTGCCTGCTTCAGCATCTCC	0.408									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulr.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(7-9)Aag>Gag		Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 3, mRNA.							108	95	99					2																	178969184		1834	4093	5927	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178969184T>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000358450.4:c.7A>G	2.37:g.178969184T>C	ENSP00000351232:p.Lys3Glu					PDE11A_uc002ult.1_Missense_Mutation_p.K3E	p.K3E	NM_001077197	NP_001070664	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	106	-			0					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000358450.4	37	c.7A>G	CCDS42785.1	.	.	.	.	.	.	.	.	.	.	T	4.159	0.028033	0.08054	.	.	ENSG00000128655	ENST00000358450	T	0.64438	-0.1	4.98	4.98	0.66077	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	B	0.18310	0.027	B	0.16289	0.015	T	0.55309	-0.8161	8	0.56958	D	0.05	.	13.9991	0.64421	0.0:0.0:0.0:1.0	.	3	Q9HCR9-2	.	E	3	ENSP00000351232:K3E	ENSP00000351232:K3E	K	-	1	0	PDE11A	178677430	1.000000	0.71417	0.052000	0.19188	0.007000	0.05969	4.614000	0.61183	2.097000	0.63578	0.459000	0.35465	AAG		0.408	PDE11A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334314.2			C	178969184	T	C	178969184	3	2	149	1	0	0	0	0	1	0	0	0	11631	1792	62	4	3040	4	PDE11A	2	178969184	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	18240181	178969184	64230189	8	10164											
TTN	7273	broad.mit.edu	37	chr2	179442852	179442852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtctctcatccttatcGgagtcttgttagctctcttc	7	17	6	11	1	4	0	1	0	3	0	9	1	5	1	1	1	1	2	1	1	4	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:179442852G>A	ENST00000591111.1	-	272	63691	c.63467C>T	c.(63466-63468)cCg>cTg	p.P21156L	TTN_ENST00000342175.6_Missense_Mutation_p.P13924L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13732L|TTN_ENST00000589042.1_Missense_Mutation_p.P22797L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20229L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13857L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21156	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTATCGGAGTCTTGTT	0.418																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60685-60687)cCg>cTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							149	139	142					2																	179442852		1893	4119	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442852G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63467C>T	2.37:g.179442852G>A	ENSP00000465570:p.Pro21156Leu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13924L|TTN_uc021vta.1_Missense_Mutation_p.P13857L|TTN_uc021vtb.1_Missense_Mutation_p.P13732L|AX746670_uc002umv.1_5'Flank	p.P20229L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		270	60911	-			21156			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60686C>T		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289020	0.40494	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63988	0.2558	L	0.28608	0.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.65512	-0.6150	9	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	13732;13857;13924;21156	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20229;13732;13924;13857;13730	ENSP00000343764:P20229L;ENSP00000434586:P13732L;ENSP00000340554:P13924L;ENSP00000352154:P13857L	ENSP00000340554:P13924L	P	-	2	0	TTN	179151098	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	6.653000	0.74382	2.822000	0.97130	0.650000	0.86243	CCG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179442852	G	A	179442852	3	1	149	1	0	0	0	0	1	0	0	0	16732	1116	39	2	39753	2	TTN	2	179442852	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	473668	179442852	63756521	9	10165											
PTPRN	5798	broad.mit.edu	37	chr2	220159756	220159756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctctgccggccagctgagGaagtggaactgcgtgagcgt	7	7	15	12	3	1	2	0	2	1	0	1	4	1	4	3	3	5	1	3	3	2	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:220159756G>A	ENST00000295718.2	-	19	2856	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	PTPRN_ENST00000497977.1_Intron|PTPRN_ENST00000409251.3_Silent_p.F843F|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Silent_p.F782F	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	872	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGCTGAGGAAGTGGAACT	0.687																																						uc002vkz.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2614-2616)ttC>ttT		Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.							39	44	43					2																	220159756		2202	4299	6501	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220159756G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2616C>T	2.37:g.220159756G>A						PTPRN_uc010zlc.2_Silent_p.F782F|PTPRN_uc002vla.3_Silent_p.F843F|MIR153-1_uc010zld.1_5'Flank	p.F872F	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	18	2857	-		Renal(207;0.0474)	872			Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2616C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499648	0.64298	.	.	ENSG00000054356	ENST00000443981	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.74520	0.3727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72880	-0.4158	4	.	.	.	.	18.5428	0.91035	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	PTPRN	219868000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.945000	0.63568	2.698000	0.92095	0.650000	0.86243	TCC		0.687	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			A	220159756	G	A	220159756	2	1	149	1	0	0	0	0	0	0	0	1	12807	1165	41	3		3	PTPRN	2	220159756	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	40716904	220159756	23039617	10	10166											
DLEC1	9940	broad.mit.edu	37	chr3	38139020	38139020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgaggtcggggatttTgagttgaactttactggggg	7	12	16	6	1	0	3	0	3	0	0	1	4	0	4	1	5	2	1	1	5	2	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:38139020T>C	ENST00000308059.6	+	17	2478	c.2457T>C	c.(2455-2457)ttT>ttC	p.F819F	DLEC1_ENST00000346219.3_Silent_p.F819F|DLEC1_ENST00000452631.2_Silent_p.F819F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCGGGGATTTTGAGTTGAACT	0.562																																						uc003chp.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2455-2457)ttT>ttC		Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.							52	54	53					3																	38139020		1906	4134	6040	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139020T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2457T>C	3.37:g.38139020T>C						DLEC1_uc003cho.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	p.F819F	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	16	2478	+			819						Silent	SNP	ENST00000308059.6	37	c.2457T>C	CCDS2672.2																																																																																				0.562	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		C	38139020	T	C	38139020	2	2	149	1	0	0	0	0	0	0	0	1	4552	1809	63	4		4	DLEC1	3	38139020	Silent	SNP	T	TCGA-16-0861-01A-01W-0424-08		38139020	159883410	11	10167											
ATP6V1A	523	broad.mit.edu	37	chr3	113503555	113503555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctaggttggtagtcatAtcactggcggagacatttat	10	14	10	7	1	3	1	2	0	1	1	4	2	3	1	0	4	0	2	0	4	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:113503555A>G	ENST00000273398.3	+	5	547	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.I114V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	147					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TGGTAGTCATATCACTGGCGG	0.373																																						uc003eao.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(439-441)Atc>Gtc		Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.							89	90	90					3																	113503555		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113503555A>G	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.439A>G	3.37:g.113503555A>G	ENSP00000273398:p.Ile147Val					ATP6V1A_uc011bik.2_Missense_Mutation_p.I114V	p.I147V	NM_001690	NP_001681	P38606	VATA_HUMAN			4	547	+			147					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.439A>G	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	A	9.667	1.145674	0.21288	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;T	0.84370	-1.84;-1.06	6.07	6.07	0.98685	.	0.045064	0.85682	D	0.000000	T	0.68961	0.3058	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66594	-0.5884	10	0.02654	T	1	-18.8407	16.6406	0.85098	1.0:0.0:0.0:0.0	.	147	P38606	VATA_HUMAN	V	147;114;114;147	ENSP00000273398:I147V;ENSP00000439874:I114V	ENSP00000273398:I147V	I	+	1	0	ATP6V1A	114986245	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.711000	0.91396	2.326000	0.78906	0.533000	0.62120	ATC		0.373	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		G	113503555	A	G	113503555	3	3	149	1	0	0	0	0	1	0	0	0	1177	449	16	4	453	4	ATP6V1A	3	113503555	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	75364535	113503555	84518875	12	10168											
FRYL	285527	broad.mit.edu	37	chr4	48575256	48575256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatgtaattcctctattaGttccctggaagaaaaatggt	12	13	10	6	0	1	1	0	0	1	1	3	3	3	3	2	3	0	2	2	3	6	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:48575256G>C	ENST00000503238.1	-	23	2850	c.2851C>G	c.(2851-2853)Cta>Gta	p.L951V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L951V|FRYL_ENST00000358350.4_Missense_Mutation_p.L951V|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000507711.1_Missense_Mutation_p.L951V			O94915	FRYL_HUMAN	FRY-like	951					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCTCTATTAGTTCCCTGGAA	0.348																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2851-2853)Cta>Gta		Homo sapiens FRY-like (FRYL), mRNA.							94	94	94					4																	48575256		1846	4086	5932	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48575256G>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2851C>G	4.37:g.48575256G>C	ENSP00000426064:p.Leu951Val					FRYL_uc003gyk.3_Missense_Mutation_p.L951V	p.L951V	NM_015030	NP_055845	O94915	FRYL_HUMAN			25	3456	-			951					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2851C>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647973	0.67358	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	5.8	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.097049	0.42821	U	0.000660	T	0.17238	0.0414	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.979;1.0	D;D	0.85130	0.973;0.997	T	0.00281	-1.1851	10	0.59425	D	0.04	.	8.0086	0.30340	0.2807:0.0:0.7193:0.0	.	951;951	F2Z2S2;O94915	.;FRYL_HUMAN	V	951	ENSP00000426064:L951V;ENSP00000351113:L951V;ENSP00000441114:L951V;ENSP00000421584:L951V	ENSP00000351113:L951V	L	-	1	2	FRYL	48270013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.220000	0.42908	1.108000	0.41662	0.655000	0.94253	CTA		0.348	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			C	48575256	G	C	48575256	3	2	149	1	0	0	0	0	1	0	0	0	6064	1020	36	5	6346	5	FRYL	4	48575256	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		48575256	142579020	13	10169											
PITX2	5308	broad.mit.edu	37	chr4	111539315	111539315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcatactggcaagcaCtcaggttggaggccgggttc	8	8	13	12	1	1	0	1	0	0	0	2	1	1	1	2	5	3	5	2	5	2	3	rs571758306		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:111539315C>T	ENST00000354925.2	-	7	2625	c.920G>A	c.(919-921)aGt>aAt	p.S307N	RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000355080.5_Missense_Mutation_p.S261N|PITX2_ENST00000394598.2_Missense_Mutation_p.S307N|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.S314N|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	307					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGGCAAGCACTCAGGTTGGA	0.632													C|||	1	0.000199681	0	0.0014	5008	,	,		16819	0		0	False		,,,				2504	0					uc003iaf.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(919-921)aGt>aAt		Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.							48	46	47					4																	111539315		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539315C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.920G>A	4.37:g.111539315C>T	ENSP00000347004:p.Ser307Asn					PITX2_uc003iac.3_Missense_Mutation_p.S314N|PITX2_uc003iad.3_Missense_Mutation_p.S307N|PITX2_uc021xqr.1_Missense_Mutation_p.S307N|PITX2_uc003iae.3_Missense_Mutation_p.S261N|PITX2_uc021xqs.1_Missense_Mutation_p.S261N	p.S307N	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	6	2743	-		Hepatocellular(203;0.217)	307					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.920G>A	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831751	0.50845	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925	D;D;D;D	0.94457	-3.25;-3.34;-3.43;-3.34	5.68	5.68	0.88126	.	0.035417	0.85682	D	0.000000	D	0.94238	0.8150	L	0.61036	1.89	0.80722	D	1	B;D;B;B	0.52996	0.004;0.957;0.041;0.04	B;P;B;B	0.45946	0.016;0.498;0.05;0.061	D	0.92779	0.6239	10	0.28530	T	0.3	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	261;261;307;314	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	N	314;307;261;307	ENSP00000304169:S314N;ENSP00000378097:S307N;ENSP00000347192:S261N;ENSP00000347004:S307N	ENSP00000304169:S314N	S	-	2	0	PITX2	111758764	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.818000	0.86416	2.689000	0.91719	0.655000	0.94253	AGT		0.632	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			T	111539315	C	T	111539315	3	4	149	1	0	0	0	0	1	0	0	0	11955	565	20	3	37	3	PITX2	4	111539315	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	62964059	111539315	79614961	14	10170											
FGA	2243	broad.mit.edu	37	chr4	155508007	155508007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatagtccttcagatctaCttcacgagctaaagccctac	11	12	5	13	1	4	1	3	0	1	1	5	2	5	1	2	0	4	1	2	0	5	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:155508007C>T	ENST00000302053.3	-	5	652	c.574G>A	c.(574-576)Gta>Ata	p.V192I	FGA_ENST00000403106.3_Missense_Mutation_p.V192I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	192					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGATCTACTTCACGAGCT	0.418																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(574-576)Gta>Ata		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						116	116	116					4																	155508007		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508007C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.574G>A	4.37:g.155508007C>T	ENSP00000306361:p.Val192Ile					FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	p.V192I	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	632	-	all_hematologic(180;0.215)	Renal(120;0.0458)	192					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.574G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895353	0.33442	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.87491	-2.26;-2.26	5.87	-9.13	0.00704	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.666605	0.15649	N	0.251496	T	0.67211	0.2869	N	0.17474	0.49	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.002;0.003	T	0.51293	-0.8724	10	0.36615	T	0.2	.	5.2127	0.15327	0.0828:0.6336:0.1656:0.118	.	192;192	P02671-2;P02671	.;FIBA_HUMAN	I	192	ENSP00000306361:V192I;ENSP00000385981:V192I	ENSP00000306361:V192I	V	-	1	0	FGA	155727457	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-0.383000	0.07398	-1.672000	0.01464	-0.137000	0.14449	GTA		0.418	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155508007	C	T	155508007	3	4	149	1	0	0	0	0	1	0	0	0	5830	565	20	3	2078	3	FGA	4	155508007	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	43968692	155508007	35646269	15	10171											
DNAH5	1767	broad.mit.edu	37	chr5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccttatgataatctgaCggtcaggcaccatcatggcc	10	10	8	13	1	4	2	3	2	1	0	4	2	4	2	3	3	0	1	3	3	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:13829731C>T	ENST00000265104.4	-	38	6436	c.6332G>A	c.(6331-6333)cGt>cAt	p.R2111H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2111	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATAATCTGACGGTCAGGCAC	0.463									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(6331-6333)cGt>cAt		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							134	118	123					5																	13829731		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13829731C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6332G>A	5.37:g.13829731C>T	ENSP00000265104:p.Arg2111His						p.R2111H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			37	6374	-	Lung NSC(4;0.00476)		2111			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6332G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041943	0.93685	.	.	ENSG00000039139	ENST00000265104	T	0.09255	3.0	5.46	5.46	0.80206	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.35992	-0.9766	10	0.62326	D	0.03	.	19.3152	0.94208	0.0:1.0:0.0:0.0	.	2111	Q8TE73	DYH5_HUMAN	H	2111	ENSP00000265104:R2111H	ENSP00000265104:R2111H	R	-	2	0	DNAH5	13882731	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	CGT		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13829731	C	T	13829731	3	4	149	1	0	0	0	0	1	0	0	0	4604	536	19	1	7710	1	DNAH5	5	13829731	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		13829731	167085529	16	10172											
CMYA5	202333	broad.mit.edu	37	chr5	79030268	79030268	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaaaggatgaaaacTggatgttgggaaagccagaa	15	9	11	6	0	1	2	0	1	1	1	2	5	1	5	2	3	2	1	2	3	5	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:79030268T>G	ENST00000446378.2	+	2	5711	c.5680T>G	c.(5680-5682)Tgg>Ggg	p.W1894G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1894					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGATGAAAACTGGATGTTGGG	0.423																																						uc003kgc.3																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(5680-5682)Tgg>Ggg		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							49	48	49					5																	79030268		1864	4101	5965	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030268T>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5680T>G	5.37:g.79030268T>G	ENSP00000394770:p.Trp1894Gly						p.W1894G	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	5752	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1894					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5680T>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952073	0.53293	.	.	ENSG00000164309	ENST00000446378	T	0.04970	3.52	5.8	-11.6	0.00059	.	1.141070	0.06527	N	0.740739	T	0.03434	0.0099	L	0.43923	1.385	0.09310	N	1	P	0.44734	0.842	B	0.32677	0.15	T	0.03641	-1.1017	10	0.38643	T	0.18	.	6.5208	0.22275	0.5953:0.1976:0.0:0.2071	.	1894	Q8N3K9	CMYA5_HUMAN	G	1894	ENSP00000394770:W1894G	ENSP00000394770:W1894G	W	+	1	0	CMYA5	79066024	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-0.554000	0.06006	-2.582000	0.00461	-1.412000	0.01120	TGG		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79030268	T	G	79030268	3	3	149	1	0	0	0	0	1	0	0	0	3590	1580	55	5	5686	5	CMYA5	5	79030268	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	65200537	79030268	101884992	17	10173											
ZNF608	57507	broad.mit.edu	37	chr5	123983427	123983427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaagtgtaaaccttatCggcctcagctttgatactgg	10	13	10	8	1	1	2	1	2	0	0	2	2	1	2	2	2	3	2	2	2	5	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:123983427C>T	ENST00000306315.5	-	4	3085	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	ZNF608_ENST00000504926.1_Missense_Mutation_p.D457N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	884							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAACCTTATCGGCCTCAGCT	0.532																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(2650-2652)Gat>Aat		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.							75	70	72					5																	123983427		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983427C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2650G>A	5.37:g.123983427C>T	ENSP00000307746:p.Asp884Asn					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	p.D884N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	3	2833	-		all_cancers(142;0.186)|Prostate(80;0.081)	884					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.2650G>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772000	0.90108	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.62232	0.05;0.04	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.78884	-0.2028	10	0.54805	T	0.06	-27.4675	20.5161	0.99213	0.0:1.0:0.0:0.0	.	884	Q9ULD9	ZN608_HUMAN	N	457;884	ENSP00000427657:D457N;ENSP00000307746:D884N	ENSP00000307746:D884N	D	-	1	0	ZNF608	124011326	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.731000	0.84895	2.852000	0.98041	0.643000	0.83706	GAT		0.532	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		T	123983427	C	T	123983427	3	4	149	1	0	0	0	0	1	0	0	0	18031	884	31	2	1912	2	ZNF608	5	123983427	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	44953159	123983427	56931833	18	10174											
PCDHB15	56121	broad.mit.edu	37	chr5	140625602	140625602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccttgggactgtgttTcctctgaaaaaagctcggga	9	11	11	10	1	1	1	0	1	1	0	4	3	3	3	2	2	2	3	2	2	3	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:140625602T>G	ENST00000231173.3	+	1	456	c.456T>G	c.(454-456)ttT>ttG	p.F152L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACTGTGTTTCCTCTGAAAA	0.438																																						uc003lje.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(454-456)ttT>ttG		Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.							59	63	62					5																	140625602		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625602T>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.456T>G	5.37:g.140625602T>G	ENSP00000231173:p.Phe152Leu						p.F152L	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	456	+			152			Cadherin 2.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.456T>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112556	0.56398	.	.	ENSG00000113248	ENST00000231173	T	0.47177	0.85	4.76	4.76	0.60689	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.50990	0.1648	M	0.70842	2.15	0.34416	D	0.696938	B	0.19331	0.035	B	0.33690	0.168	T	0.62286	-0.6886	9	0.52906	T	0.07	.	9.6294	0.39770	0.156:0.0:0.0:0.844	.	152	Q9Y5E8	PCDBF_HUMAN	L	152	ENSP00000231173:F152L	ENSP00000231173:F152L	F	+	3	2	PCDHB15	140605786	0.003000	0.15002	0.998000	0.56505	0.922000	0.55478	-0.034000	0.12225	1.908000	0.55244	0.260000	0.18958	TTT		0.438	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		G	140625602	T	G	140625602	3	3	149	1	0	0	0	0	1	0	0	0	11540	1780	62	5	458	5	PCDHB15	5	140625602	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	16642175	140625602	40289658	19	10175											
ARHGEF37	389337	broad.mit.edu	37	chr5	148997790	148997790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccgggagcggctggcccGcatcaacacacacaccctct	8	5	9	19	3	2	0	1	0	1	0	3	1	3	1	4	3	2	2	4	3	1	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:148997790G>A	ENST00000333677.6	+	6	873	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	237						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CGGCTGGCCCGCATCAACACA	0.632																																						uc003lra.1																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(709-711)cGc>cAc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.							74	82	79					5																	148997790		2031	4185	6216	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148997790G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.710G>A	5.37:g.148997790G>A	ENSP00000328083:p.Arg237His						p.R237H	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			5	774	+			237					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.710G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618581	0.87460	.	.	ENSG00000183111	ENST00000333677	T	0.57273	0.41	5.7	4.84	0.62591	.	0.176266	0.49916	N	0.000139	T	0.65923	0.2738	L	0.50333	1.59	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.68014	-0.5521	10	0.62326	D	0.03	-3.2861	13.0329	0.58854	0.0745:0.0:0.9255:0.0	.	237	A1IGU5	ARH37_HUMAN	H	237	ENSP00000328083:R237H	ENSP00000328083:R237H	R	+	2	0	ARHGEF37	148977983	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	7.167000	0.77562	1.426000	0.47256	-0.140000	0.14226	CGC		0.632	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		A	148997790	G	A	148997790	3	1	149	1	0	0	0	0	1	0	0	0	906	1087	38	1	728	1	ARHGEF37	5	148997790	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	8372188	148997790	31917470	20	10176											
CLINT1	9685	broad.mit.edu	37	chr5	157232966	157232966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgctccaagatcaatggTtttggaaggatttgctgtgc	8	14	12	7	0	1	1	1	0	0	1	2	3	2	3	1	3	4	4	1	3	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:157232966T>C	ENST00000411809.2	-	7	1054	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	CLINT1_ENST00000296951.5_Missense_Mutation_p.T266A|CLINT1_ENST00000523908.1_Missense_Mutation_p.T284A|CLINT1_ENST00000523094.1_Missense_Mutation_p.T266A|CLINT1_ENST00000530742.1_Missense_Mutation_p.T266A	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	284					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATCAATGGTTTTGGAAGGA	0.473																																					Colon(22;427 587 2170 6147 14291)	uc003lxj.2																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(850-852)Acc>Gcc		Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.							279	278	278					5																	157232966		2135	4240	6375	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157232966T>C	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.850A>G	5.37:g.157232966T>C	ENSP00000388340:p.Thr284Ala					CLINT1_uc003lxi.2_Missense_Mutation_p.T266A|CLINT1_uc011ddv.2_Missense_Mutation_p.T284A	p.T284A	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	1055	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	284					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.850A>G	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655571	0.47467	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.63	5.63	0.86233	.	0.091790	0.85682	D	0.000000	T	0.37785	0.1016	M	0.62723	1.935	0.46701	D	0.999162	B;B	0.27013	0.101;0.166	B;B	0.17098	0.017;0.017	T	0.29792	-1.0000	10	0.07175	T	0.84	-14.8106	15.8385	0.78818	0.0:0.0:0.0:1.0	.	284;284	B7Z6F8;Q14677	.;EPN4_HUMAN	A	266;266;284;266;284	ENSP00000429345:T266A;ENSP00000433419:T266A;ENSP00000388340:T284A;ENSP00000296951:T266A;ENSP00000429824:T284A	ENSP00000296951:T266A	T	-	1	0	CLINT1	157165544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.257000	0.72480	2.145000	0.66743	0.455000	0.32223	ACC		0.473	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		C	157232966	T	C	157232966	3	2	149	1	0	0	0	0	1	0	0	0	3531	1725	60	4	1051	4	CLINT1	5	157232966	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	8235176	157232966	23682294	21	10177											
N4BP3	23138	broad.mit.edu	37	chr5	177548865	177548865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaggagaaggagcgcGtgctgcgctaccagcgggag	9	3	20	9	4	0	1	0	0	0	1	0	5	0	4	1	5	5	3	1	5	2	1	rs376298616		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:177548865G>A	ENST00000274605.5	+	5	1857	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	500						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGAGCGCGTGCTGCGCTA	0.687																																						uc003mik.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(1498-1500)Gtg>Atg		Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.							14	19	17					5																	177548865		2200	4292	6492	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177548865G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1498G>A	5.37:g.177548865G>A	ENSP00000274605:p.Val500Met					N4BP3_uc003mil.1_Missense_Mutation_p.V169M	p.V500M	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1745	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	500					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.1498G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363235	0.82353	.	.	ENSG00000145911	ENST00000274605	T	0.61392	0.11	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.78916	2.43	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.79564	-0.1751	10	0.87932	D	0	-29.0069	17.337	0.87285	0.0:0.0:1.0:0.0	.	500	O15049	N4BP3_HUMAN	M	500	ENSP00000274605:V500M	ENSP00000274605:V500M	V	+	1	0	N4BP3	177481471	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	6.802000	0.75175	2.700000	0.92200	0.462000	0.41574	GTG		0.687	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		A	177548865	G	A	177548865	3	1	149	1	0	0	0	0	1	0	0	0	10113	1145	40	1	1512	1	N4BP3	5	177548865	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	20315899	177548865	3366395	22	10178											
RASGEF1C	255426	broad.mit.edu	37	chr5	179555514	179555514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggtcctgtaggagatggGcttgtcggcacccaccagac	7	9	13	12	1	0	2	0	0	0	2	2	3	1	2	3	4	0	3	3	4	1	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:179555514G>T	ENST00000393371.2	-	4	831	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.P28T|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.P179T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	179					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGAGATGGGCTTGTCGGCA	0.637																																						uc003mlq.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(535-537)Ccc>Acc		Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.							103	85	91					5																	179555514		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179555514G>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.535C>A	5.37:g.179555514G>T	ENSP00000377037:p.Pro179Thr					RASGEF1C_uc003mlr.3_Missense_Mutation_p.P179T|RASGEF1C_uc003mlp.4_Missense_Mutation_p.P28T	p.P179T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	832	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	179					D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.535C>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849712	0.32699	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.31247	1.5;1.5;1.5	4.31	4.31	0.51392	Ras guanine nucleotide exchange factor, domain (1);	0.073862	0.56097	D	0.000032	T	0.22936	0.0554	L	0.29908	0.895	0.34355	D	0.690274	B	0.11235	0.004	B	0.12156	0.007	T	0.20472	-1.0274	10	0.25106	T	0.35	.	13.8989	0.63790	0.0:0.0:1.0:0.0	.	179	Q8N431	RGF1C_HUMAN	T	179;179;28	ENSP00000354963:P179T;ENSP00000377037:P179T;ENSP00000429114:P28T	ENSP00000354963:P179T	P	-	1	0	RASGEF1C	179488120	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.745000	0.68672	2.136000	0.66102	0.491000	0.48974	CCC		0.637	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		T	179555514	G	T	179555514	3	4	149	1	0	0	0	0	1	0	0	0	13071	1203	42	5	905	5	RASGEF1C	5	179555514	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	2006649	179555514	1359746	23	10179											
DST	667	broad.mit.edu	37	chr6	56342227	56342227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagccaaaacggtgtcGcccatagtggtggctttatt	10	11	11	9	2	0	1	0	0	0	1	1	1	0	1	2	3	2	1	2	3	5	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:56342227G>A	ENST00000361203.3	-	86	20638	c.20631C>T	c.(20629-20631)ggC>ggT	p.G6877G	DST_ENST00000370754.5_Silent_p.G7166G|DST_ENST00000370769.4_Silent_p.G6988G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.G4900G|DST_ENST00000244364.6_Silent_p.G4574G|DST_ENST00000446842.2_Silent_p.G6662G|DST_ENST00000370788.2_Silent_p.G4791G			Q03001	DYST_HUMAN	dystonin	6878					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACGGTGTCGCCCATAGTGG	0.458																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(13720-13722)ggC>ggT		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							214	223	220					6																	56342227		1933	4143	6076	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56342227G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20631C>T	6.37:g.56342227G>A							p.G4574G	NM_015548	NP_056363	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		71	13830	-	Lung NSC(77;0.103)		6986					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.13722C>T																																																																																					0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56342227	G	A	56342227	2	1	149	1	0	0	0	0	0	0	0	1	4783	1074	38	1		1	DST	6	56342227	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08		56342227	114772840	24	10180											
ME1	4199	broad.mit.edu	37	chr6	84056002	84056002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgcccattccattacAgccaaggtctcccaagccaa	12	7	8	14	0	1	0	0	0	1	0	3	1	2	1	5	2	4	0	5	2	4	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:84056002A>T	ENST00000369705.3	-	5	606	c.490T>A	c.(490-492)Tgt>Agt	p.C164S	ME1_ENST00000543031.1_Missense_Mutation_p.C89S|ME1_ENST00000541327.1_5'UTR	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	164					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ATTCCATTACAGCCAAGGTCT	0.448																																						uc003pjy.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(490-492)Tgt>Agt		Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	NADH(DB00157)						87	78	81					6																	84056002		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84056002A>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.490T>A	6.37:g.84056002A>T	ENSP00000358719:p.Cys164Ser					ME1_uc011dzb.2_Missense_Mutation_p.C89S|ME1_uc011dzc.2_5'UTR	p.C164S	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	4	755	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	164					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.490T>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499518	0.44455	.	.	ENSG00000065833	ENST00000369705;ENST00000543031	T;T	0.28255	1.62;1.62	5.86	4.69	0.59074	Malic enzyme, N-terminal (2);	0.080792	0.85682	N	0.000000	T	0.11879	0.0289	L	0.33668	1.02	0.80722	D	1	B	0.16166	0.016	B	0.21708	0.036	T	0.03863	-1.0997	10	0.49607	T	0.09	-12.9973	10.3633	0.44008	0.738:0.0:0.0:0.262	.	164	P48163	MAOX_HUMAN	S	164;89	ENSP00000358719:C164S;ENSP00000446114:C89S	ENSP00000358719:C164S	C	-	1	0	ME1	84112721	0.976000	0.34144	0.998000	0.56505	0.930000	0.56654	1.106000	0.31098	1.016000	0.39470	0.528000	0.53228	TGT		0.448	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			T	84056002	A	T	84056002	3	4	149	1	0	0	0	0	1	0	0	0	9417	188	7	5	1268	5	ME1	6	84056002	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	27713775	84056002	87059065	25	10181											
SAMD9	54809	broad.mit.edu	37	chr7	92732691	92732691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttggtgaaaatattctgcCctttcaggatattccggacc	9	13	8	11	1	2	1	1	1	1	0	3	3	3	3	4	3	1	0	4	3	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:92732691C>A	ENST00000379958.2	-	3	2989	c.2720G>T	c.(2719-2721)gGg>gTg	p.G907V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	907						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATATTCTGCCCTTTCAGGAT	0.333																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2719-2721)gGg>gTg		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							48	51	50					7																	92732691		2198	4289	6487	SO:0001583	missense	54809					cytoplasm		g.chr7:92732691C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2720G>T	7.37:g.92732691C>A	ENSP00000369292:p.Gly907Val					SAMD9_uc003umg.3_Missense_Mutation_p.G907V|SAMD9_uc022ahg.1_Missense_Mutation_p.G907V	p.G907V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	2990	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		907					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2720G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414659	0.25465	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25414	1.8;2.62	4.47	3.59	0.41128	.	0.465113	0.18984	U	0.125799	T	0.28400	0.0702	L	0.52573	1.65	0.40395	D	0.979587	P	0.48694	0.914	P	0.46758	0.526	T	0.07158	-1.0787	10	0.87932	D	0	-2.7089	8.7054	0.34351	0.0:0.8123:0.0:0.1877	.	907	Q5K651	SAMD9_HUMAN	V	907	ENSP00000369292:G907V;ENSP00000414529:G907V	ENSP00000369292:G907V	G	-	2	0	SAMD9	92570627	0.654000	0.27367	0.871000	0.34182	0.373000	0.29922	1.169000	0.31871	1.110000	0.41699	0.609000	0.83330	GGG		0.333	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92732691	C	A	92732691	3	1	149	1	0	0	0	0	1	0	0	0	13826	623	22	5	2053	5	SAMD9	7	92732691	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		92732691	66405972	26	10182											
AZGP1	563	broad.mit.edu	37	chr7	99569575	99569575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcctgaaacgcggggAcgtcttcaacatgcttggac	10	7	13	11	3	2	1	1	1	1	0	2	3	2	3	1	4	3	1	1	4	3	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:99569575A>T	ENST00000292401.4	-	2	267	c.131T>A	c.(130-132)gTc>gAc	p.V44D	AZGP1_ENST00000411734.1_Missense_Mutation_p.V41D	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	44					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACGCGGGGACGTCTTCAAC	0.502																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(130-132)gTc>gAc		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							92	89	90					7																	99569575		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569575A>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.131T>A	7.37:g.99569575A>T	ENSP00000292401:p.Val44Asp						p.V44D	NM_001185	NP_001176	P25311	ZA2G_HUMAN			1	223	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		44					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.131T>A	CCDS5680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.722|9.722	1.159831|1.159831	0.21454|0.21454	.|.	.|.	ENSG00000160862|ENSG00000160862	ENST00000419575|ENST00000292401;ENST00000411734	.|D;D	.|0.89617	.|-2.54;-2.54	1.51|1.51	0.291|0.291	0.15732|0.15732	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|2.121230	.|0.03058	.|U	.|0.155518	T|T	0.79569|0.79569	0.4468|0.4468	N|N	0.13140|0.13140	0.3|0.3	0.09310|0.09310	N|N	1|1	.|B	.|0.29936	.|0.262	.|B	.|0.30782	.|0.12	T|T	0.68808|0.68808	-0.5311|-0.5311	5|10	.|0.52906	.|T	.|0.07	.|.	3.4563|3.4563	0.07516|0.07516	0.7701:0.0:0.2299:0.0|0.7701:0.0:0.2299:0.0	.|.	.|44	.|P25311	.|ZA2G_HUMAN	T|D	15|44;41	.|ENSP00000292401:V44D;ENSP00000396093:V41D	.|ENSP00000292401:V44D	S|V	-|-	1|2	0|0	AZGP1|AZGP1	99407511|99407511	0.667000|0.667000	0.27484|0.27484	0.005000|0.005000	0.12908|0.12908	0.000000|0.000000	0.00434|0.00434	1.046000|1.046000	0.30354|0.30354	0.065000|0.065000	0.16485|0.16485	-0.818000|-0.818000	0.03119|0.03119	TCC|GTC		0.502	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		T	99569575	A	T	99569575	3	4	149	1	0	0	0	0	1	0	0	0	1239	275	10	5	777	5	AZGP1	7	99569575	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	6836884	99569575	59569088	27	10183											
IQUB	154865	broad.mit.edu	37	chr7	123152166	123152166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataacctcttccatgagttGttcattgtctggttccaggc	7	16	8	10	0	3	1	1	1	2	0	5	1	5	1	3	2	1	3	3	2	2	7	rs371332386		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:123152166G>T	ENST00000466202.1	-	2	805	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	IQUB_ENST00000324698.6_Missense_Mutation_p.Q77K|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.Q77K	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	77					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATGAGTTGTTCATTGTCT	0.413																																						uc003vkn.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(229-231)Caa>Aaa		Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.		G	LYS/GLN	1,4405	2.1+/-5.4	0,1,2202	251	209	223		229	-3.3	0	7		223	0,8600		0,0,4300	no	missense	IQUB	NM_178827.4	53	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	77/792	123152166	1,13005	2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152166G>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.229C>A	7.37:g.123152166G>T	ENSP00000417769:p.Gln77Lys					IQUB_uc003vko.3_Missense_Mutation_p.Q77K|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	p.Q77K	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			1	806	-			77					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.229C>A	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	3.972	-0.008113	0.07773	2.27E-4	0.0	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.39406	2.1;2.1;1.08	4.96	-3.35	0.04928	.	4.993710	0.00166	N	0.000002	T	0.19446	0.0467	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.29852	-0.9998	10	0.02654	T	1	.	6.151	0.20313	0.0:0.2033:0.4198:0.3769	.	77;77;77	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	K	77	ENSP00000417769:Q77K;ENSP00000324882:Q77K;ENSP00000388498:Q77K	ENSP00000324882:Q77K	Q	-	1	0	IQUB	122939402	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.779000	0.00774	-0.803000	0.04415	-0.219000	0.12488	CAA		0.413	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		T	123152166	G	T	123152166	3	4	149	1	0	0	0	0	1	0	0	0	7820	1386	48	5	2194	5	IQUB	7	123152166	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	23582591	123152166	35986497	28	10184											
FAM71F1	84691	broad.mit.edu	37	chr7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccttgcacctgtgacctaCgttggagggcttcattcacg	6	12	10	13	2	2	1	2	1	0	0	3	2	3	2	3	2	2	3	3	2	1	5	rs140953386		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:128370003C>T	ENST00000315184.5	+	6	954	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R200C	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	301										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGACCTACGTTGGAGGGC	0.547													C|||	1	0.000199681	0	0	5008	,	,		21679	0		0.001	False		,,,				2504	0					uc003vno.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(901-903)Cgt>Tgt		Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	128	115	119		901	-0.9	0.4	7	dbSNP_134	119	10,8590	6.4+/-24.3	0,10,4290	yes	missense	FAM71F1	NM_032599.2	180	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	benign	301/345	128370003	10,12996	2203	4300	6503	SO:0001583	missense	84691							g.chr7:128370003C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.901C>T	7.37:g.128370003C>T	ENSP00000326652:p.Arg301Cys					FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	p.R301C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			5	954	+			301					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.901C>T	CCDS5804.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	4.726	0.134986	0.09032	0.0	0.001163	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.23754	1.89;3.26	4.57	-0.913	0.10500	.	0.761957	0.11604	N	0.547438	T	0.12646	0.0307	N	0.14661	0.345	0.19575	N	0.999965	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.23190	-1.0195	10	0.62326	D	0.03	-0.4086	4.9371	0.13946	0.5276:0.2064:0.0:0.266	.	299;301;200	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	C	200;301	ENSP00000418192:R200C;ENSP00000326652:R301C	ENSP00000326652:R301C	R	+	1	0	FAM71F1	128157239	0.995000	0.38212	0.373000	0.26003	0.097000	0.18754	0.924000	0.28777	-0.002000	0.14469	-0.169000	0.13324	CGT		0.547	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		T	128370003	C	T	128370003	3	4	149	1	0	0	0	0	1	0	0	0	5612	536	19	1	923	1	FAM71F1	7	128370003	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	5217837	128370003	30768660	29	10185											
HIPK2	28996	broad.mit.edu	37	chr7	139416741	139416741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaactcggctctattttCagtttcttcacactacagaa	10	15	6	10	1	4	1	2	0	2	1	5	2	4	2	0	2	2	2	0	2	4	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:139416741C>T	ENST00000406875.3	-	2	187	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HIPK2_ENST00000428878.2_Silent_p.L31L|HIPK2_ENST00000342645.6_Silent_p.L31L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	31					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTCTATTTTCAGTTTCTTCA	0.493																																						uc003vvf.4																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(91-93)ctG>ctA		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							73	70	71					7																	139416741		1568	3582	5150	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416741C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.93G>A	7.37:g.139416741C>T						HIPK2_uc003vvd.4_Silent_p.L31L	p.L31L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			1	364	-	Melanoma(164;0.205)		31					Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.93G>A																																																																																					0.493	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		T	139416741	C	T	139416741	2	4	149	1	0	0	0	0	0	0	0	1	7117	813	29	3		3	HIPK2	7	139416741	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	11046738	139416741	19721922	30	10186											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829418	146829418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacctggaggtgcccggaCggcttaaccaggacctgttc	7	9	13	12	2	0	0	0	0	0	0	1	3	0	3	4	5	3	3	4	5	2	3	rs375172684		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:146829418C>T	ENST00000361727.3	+	8	1681	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	389					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTGCCCGGACGGCTTAACCA	0.468										HNSCC(39;0.1)			C|||	1	0.000199681	0	0	5008	,	,		19821	0.001		0	False		,,,				2504	0					uc003weu.2																			0		p.R389Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1165-1167)Cgg>Tgg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		C	TRP/ARG	0,4406		0,0,2203	130	121	124		1165	4.7	0.3	7		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	CNTNAP2	NM_014141.5	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	389/1332	146829418	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829418C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1165C>T	7.37:g.146829418C>T	ENSP00000354778:p.Arg389Trp	HNSCC(39;0.1)					p.R389W	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1681	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	389					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1165C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917226	0.73098	0.0	2.33E-4	ENSG00000174469	ENST00000361727	T	0.79141	-1.24	5.7	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.101290	0.39083	N	0.001476	D	0.82917	0.5141	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.80542	-0.1336	10	0.27082	T	0.32	.	13.764	0.62983	0.2007:0.7993:0.0:0.0	.	389	Q9UHC6	CNTP2_HUMAN	W	389	ENSP00000354778:R389W	ENSP00000354778:R389W	R	+	1	2	CNTNAP2	146460351	1.000000	0.71417	0.350000	0.25708	0.982000	0.71751	4.384000	0.59607	1.187000	0.43000	0.591000	0.81541	CGG		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146829418	C	T	146829418	3	4	149	1	0	0	0	0	1	0	0	0	3647	527	19	1	1195	1	CNTNAP2	7	146829418	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	7412677	146829418	12309245	31	10187											
IARS	3376	broad.mit.edu	37	chr9	95007245	95007246	+	Missense_Mutation	DNP	GC	GC	AA																															ggaaacagaaaaatacctgaGcatctgagtgtgcttcaaat																										TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:95007245_95007246GC>AA	ENST00000375643.3	-	27	3165_3166	c.2899_2900GC>TT	c.(2899-2901)GCt>TTt	p.A967F	IARS_ENST00000375627.1_Missense_Mutation_p.A20F|IARS_ENST00000447699.2_Missense_Mutation_p.A857F|IARS_ENST00000443024.2_Missense_Mutation_p.A967F|IARS_ENST00000474340.1_5'Flank|IARS_ENST00000375629.3_Missense_Mutation_p.A20F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	967					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATACCTGAGCATCTGAGTGT	0.446																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2899-2901)gct>TTt		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)																																			SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95007245_95007246GC>AA	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2899_2900delinsAA	9.37:g.95007245_95007246delinsAA	ENSP00000364794:p.Ala967Phe					IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F	p.A967F	NM_013417	NP_038203	P41252	SYIC_HUMAN			26	3156_3157	-			967					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	DNP	ENST00000375643.3	37	c.2899_2900GC>TT	CCDS6694.1																																																																																				0.446	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		AA	95007246	GC	AA	95007245	3	1	149	1	0	0	0	0	1	0	0	0	7473	971	34	3	920	3	IARS	9	95007245	Missense_Mutation	DNP	GC	TCGA-16-0861-01A-01W-0424-08		95007245	46206186	32	10188											
LPAR1	1902	broad.mit.edu	37	chr9	113703772	113703772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggggtccagaactatgcCgagacattctcatagtcctc	9	9	10	13	2	1	2	1	0	1	2	5	3	3	2	4	2	2	0	4	2	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:113703772C>T	ENST00000374431.3	-	4	1105	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	LPAR1_ENST00000541779.1_Missense_Mutation_p.R242Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R241Q|LPAR1_ENST00000358883.4_Missense_Mutation_p.R241Q|LPAR1_ENST00000538760.1_Missense_Mutation_p.R242Q	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	241					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGAACTATGCCGAGACATTCT	0.468																																					NSCLC(115;661 2323 9836 34256)	uc011lwo.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(724-726)cGg>cAg		Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.							95	93	94					9																	113703772		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703772C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.722G>A	9.37:g.113703772C>T	ENSP00000363553:p.Arg241Gln					LPAR1_uc004bfa.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R242Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R223Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R241Q|LPAR1_uc010mub.3_Missense_Mutation_p.R241Q	p.R242Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			1	727	-			241					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.725G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259768	0.59321	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.00793	-1.18	0.80722	D	1	B;B;B	0.28971	0.229;0.229;0.229	B;B;B	0.25140	0.058;0.058;0.058	T	0.19778	-1.0295	10	0.34782	T	0.22	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	242;242;241	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	Q	241;242;241;241;223;242	ENSP00000363553:R241Q;ENSP00000445697:R242Q;ENSP00000363552:R241Q;ENSP00000351755:R241Q;ENSP00000440201:R242Q	ENSP00000351755:R241Q	R	-	2	0	LPAR1	112743593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.437000	0.82529	0.563000	0.77884	CGG		0.468	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		T	113703772	C	T	113703772	3	4	149	1	0	0	0	0	1	0	0	0	8904	652	23	2	380	2	LPAR1	9	113703772	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	18696527	113703772	27509659	33	10189											
SUSD1	64420	broad.mit.edu	37	chr9	114860875	114860875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggcacttgttccctcGttgtgaagttaaacgatgtt	9	14	9	9	2	0	1	0	1	0	0	2	2	1	1	1	1	2	5	1	1	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:114860875G>T	ENST00000374270.3	-	10	1521	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	SUSD1_ENST00000374264.2_Missense_Mutation_p.T450K|SUSD1_ENST00000374263.3_Missense_Mutation_p.T450K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	450						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTTCCCTCGTTGTGAAGTT	0.443																																						uc010mui.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1348-1350)aCg>aAg		Homo sapiens sushi domain containing 1 (SUSD1), mRNA.							164	143	150					9																	114860875		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114860875G>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1349C>A	9.37:g.114860875G>T	ENSP00000363388:p.Thr450Lys					MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T450K|SUSD1_uc010muj.3_Missense_Mutation_p.T450K	p.T450K			Q6UWL2	SUSD1_HUMAN			9	1390	-			450					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1349C>A	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.95|16.95	3.263196|3.263196	0.59431|0.59431	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.28895	.|1.59;1.59;1.59	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.45867	.|D	.|0.000338	T|T	0.57066|0.57066	0.2028|0.2028	M|M	0.81802|0.81802	2.56|2.56	0.41657|0.41657	D|D	0.989167|0.989167	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.987;0.999	T|T	0.60811|0.60811	-0.7189|-0.7189	5|9	.|.	.|.	.|.	-9.8735|-9.8735	14.1226|14.1226	0.65198|0.65198	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|450;450;450	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	K|K	433|450	.|ENSP00000363388:T450K;ENSP00000363381:T450K;ENSP00000363382:T450K	.|.	N|T	-|-	3|2	2|0	SUSD1|SUSD1	113900696|113900696	0.958000|0.958000	0.32768|0.32768	0.817000|0.817000	0.32601|0.32601	0.361000|0.361000	0.29550|0.29550	4.867000|4.867000	0.63013|0.63013	2.402000|2.402000	0.81655|0.81655	0.655000|0.655000	0.94253|0.94253	AAC|ACG		0.443	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		T	114860875	G	T	114860875	3	4	149	1	0	0	0	0	1	0	0	0	15404	1145	40	5	926	5	SUSD1	9	114860875	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1157103	114860875	26352556	34	10190											
PTEN	5728	broad.mit.edu	37	chr10	89685315	89685318	+	Splice_Site	DEL	GTAA	GTAA	-																															cattacaagatatacaatctGtaagtatgttttcttatttg																								rs398123318		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:89685315_89685318delGTAA	ENST00000371953.3	+	3	1566		c.e3+1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(17)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAATCTGTAAGTATGTTTTC	0.275		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		64	Whole gene deletion(37)|Unknown(17)|Deletion - Frameshift(10)	p.0?(37)|p.?(17)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)	central_nervous_system(20)|prostate(16)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD004539|CD004540|CS991490|CS992480	PTEN	D|S		c.e3+1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685315_89685318delGTAA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.209+1GTAA>-	10.37:g.89685315_89685318delGTAA		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Intron	p.L70_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1241	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	70		L -> P (in CD).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	DEL	ENST00000371953.3	37	c.209_splice	CCDS31238.1																																																																																				0.275	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	-	89685318	GTAA	-	89685315	8	5	149	1	0	1	0	1	0	0	1	0	12738	1391	48	0	220	0	PTEN	10	89685315	Splice_Site	DEL	GTAA	TCGA-16-0861-01A-01W-0424-08		89685315	45849432	35	10191											
BTRC	8945	broad.mit.edu	37	chr10	103281492	103281492	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaactgtgtgtcaaatacTttgagcagtggtcagagtca	12	11	12	6	0	3	2	3	1	0	1	3	3	3	3	0	2	3	1	0	2	3	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103281492T>G	ENST00000370187.3	+	5	539	c.421T>G	c.(421-423)Ttt>Gtt	p.F141V	BTRC_ENST00000408038.2_Missense_Mutation_p.F105V|BTRC_ENST00000393441.4_Missense_Mutation_p.F100V	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	141	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGTCAAATACTTTGAGCAGTG	0.413																																						uc001kta.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(421-423)Ttt>Gtt		Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.							135	122	126					10																	103281492		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103281492T>G	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.421T>G	10.37:g.103281492T>G	ENSP00000359206:p.Phe141Val					BTRC_uc001ktb.3_Missense_Mutation_p.F105V|BTRC_uc001ktc.3_Missense_Mutation_p.F115V	p.F141V	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	4	534	+		Colorectal(252;0.234)	141			Homodimerization domain D.		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.421T>G	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199635	0.79015	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T	0.70164	-0.23;-0.17;-0.46	5.6	5.6	0.85130	D domain of beta-TrCP (1);	0.070952	0.64402	D	0.000012	T	0.71787	0.3381	M	0.65975	2.015	0.53688	D	0.999974	P;P;B	0.42692	0.787;0.748;0.177	P;B;B	0.45913	0.497;0.364;0.11	T	0.75534	-0.3284	10	0.66056	D	0.02	-9.41	16.1249	0.81386	0.0:0.0:0.0:1.0	.	115;105;141	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	V	141;100;105;123	ENSP00000359206:F141V;ENSP00000377088:F100V;ENSP00000385339:F105V	ENSP00000359202:F123V	F	+	1	0	BTRC	103271482	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.994000	0.88315	2.262000	0.75019	0.529000	0.55759	TTT		0.413	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		G	103281492	T	G	103281492	3	3	149	1	0	0	0	0	1	0	0	0	1569	1609	56	5	439	5	BTRC	10	103281492	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	13596177	103281492	32253255	36	10192											
PITX3	5309	broad.mit.edu	37	chr10	103990780	103990780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccccgagcggcgccgCgaagctgcctttgcatagct	6	6	12	17	5	0	0	0	0	0	0	0	2	0	0	5	1	6	3	5	1	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103990780C>A	ENST00000370002.3	-	4	553	c.400G>T	c.(400-402)Gcg>Tcg	p.A134S	PITX3_ENST00000539804.1_Missense_Mutation_p.A134S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	134					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCGGCGCCGCGAAGCTGCCT	0.711																																						uc001kuu.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(400-402)Gcg>Tcg		Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.							7	10	9					10																	103990780		2125	4186	6311	SO:0001583	missense	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990780C>A		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.400G>T	10.37:g.103990780C>A	ENSP00000359019:p.Ala134Ser						p.A134S	NM_005029	NP_005020	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	3	554	-		Colorectal(252;0.00957)	134					Q5VZL2	Missense_Mutation	SNP	ENST00000370002.3	37	c.400G>T	CCDS7532.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506069	0.64410	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	D;D	0.88896	-2.44;-2.44	4.74	4.74	0.60224	.	0.052663	0.85682	D	0.000000	T	0.78039	0.4221	N	0.03608	-0.345	0.44547	D	0.9975	B	0.14805	0.011	B	0.09377	0.004	T	0.73805	-0.3867	10	0.49607	T	0.09	.	17.7191	0.88345	0.0:1.0:0.0:0.0	.	134	O75364	PITX3_HUMAN	S	134	ENSP00000359019:A134S;ENSP00000439383:A134S	ENSP00000359019:A134S	A	-	1	0	PITX3	103980770	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.667000	0.61561	2.161000	0.67846	0.455000	0.32223	GCG		0.711	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			A	103990780	C	A	103990780	3	1	149	1	0	0	0	0	1	0	0	0	11956	768	27	5	512	5	PITX3	10	103990780	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	709288	103990780	31543967	37	10193											
C11orf30	56946	broad.mit.edu	37	chr11	76164415	76164415	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtaaacgatgaacggttAacaacaattgcacataagta	18	8	8	7	2	0	1	0	1	0	0	0	2	0	1	0	1	5	5	0	1	8	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:76164415A>C	ENST00000529032.1	+	3	228	c.228A>C	c.(226-228)ttA>ttC	p.L76F	C11orf30_ENST00000343878.3_Missense_Mutation_p.L76F|C11orf30_ENST00000533988.1_Missense_Mutation_p.L76F|C11orf30_ENST00000334736.3_Missense_Mutation_p.L76F|C11orf30_ENST00000525919.1_Missense_Mutation_p.L76F|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000524490.1_Missense_Mutation_p.L76F|C11orf30_ENST00000524767.1_Missense_Mutation_p.L76F|C11orf30_ENST00000533248.1_Missense_Mutation_p.L76F|C11orf30_ENST00000525038.1_Missense_Mutation_p.L76F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	76	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATGAACGGTTAACAACAATTG	0.403																																						uc001oxl.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(226-228)ttA>ttC		Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.							125	104	111					11																	76164415		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76164415A>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.228A>C	11.37:g.76164415A>C	ENSP00000432327:p.Leu76Phe					C11orf30_uc001oxj.3_Missense_Mutation_p.L76F|C11orf30_uc001oxk.3_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.3_Missense_Mutation_p.L76F|C11orf30_uc010rsb.2_Missense_Mutation_p.L76F|C11orf30_uc010rsc.2_Missense_Mutation_p.L76F|C11orf30_uc001oxn.3_Missense_Mutation_p.L76F|C11orf30_uc010rsd.2_Missense_Mutation_p.L76F	p.L76F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			3	371	+			76			ENT.|Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.228A>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093419	0.36952	.	.	ENSG00000158636	ENST00000533988;ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.08	4.96	0.65561	EMSY N-terminal (2);	0.063707	0.64402	D	0.000006	T	0.72763	0.3501	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;0.998;1.0;0.998;1.0;0.993	T	0.74156	-0.3756	9	0.87932	D	0	-4.9616	3.9011	0.09161	0.6689:0.1341:0.0685:0.1285	.	76;76;76;76;76;76;76;76;76	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	F	76	.	ENSP00000334130:L76F	L	+	3	2	C11orf30	75842063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.821000	0.39041	1.129000	0.42072	0.533000	0.62120	TTA		0.403	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		C	76164415	A	C	76164415	3	2	149	1	0	0	0	0	1	0	0	0	1636	359	13	5	238	5	C11orf30	11	76164415	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08		76164415	58842101	38	10194											
ELMOD1	55531	broad.mit.edu	37	chr11	107518220	107518220	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttgaagcccaatacTccactggaatctcggatttc	12	12	6	11	1	2	1	0	1	2	0	5	3	3	3	2	2	2	0	2	2	5	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:107518220T>A	ENST00000265840.7	+	7	712	c.447T>A	c.(445-447)acT>acA	p.T149T	ELMOD1_ENST00000443271.2_Silent_p.T149T|ELMOD1_ENST00000531234.1_Silent_p.T143T	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	149	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383																																						uc010rvs.2																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(445-447)acT>acA		Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.							102	97	99					11																	107518220		1823	4088	5911	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107518220T>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.447T>A	11.37:g.107518220T>A						ELMOD1_uc001pjm.3_Silent_p.T149T|ELMOD1_uc010rvt.2_Silent_p.T143T	p.T149T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	6	851	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	149			ELMO.		B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.447T>A	CCDS44723.1																																																																																				0.383	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		A	107518220	T	A	107518220	2	1	149	1	0	0	0	0	0	0	0	1	5068	1538	54	5		5	ELMOD1	11	107518220	Silent	SNP	T	TCGA-16-0861-01A-01W-0424-08	31353805	107518220	27488296	39	10195											
WNK1	65125	broad.mit.edu	37	chr12	998382	998382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatcacagtgacttctgCggttggtgtaagttttgaaa	10	14	12	5	1	2	3	1	3	1	0	2	4	2	3	0	2	1	3	0	2	2	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:998382C>T	ENST00000315939.6	+	21	6084	c.5441C>T	c.(5440-5442)gCg>gTg	p.A1814V	WNK1_ENST00000340908.4_Missense_Mutation_p.A1407V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1567V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2312V|WNK1_ENST00000537687.1_Missense_Mutation_p.A2074V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1814					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGACTTCTGCGGTTGGTGTA	0.368																																					Colon(19;451 567 6672 12618 28860)	uc021qss.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(6220-6222)gCg>gTg		Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.							158	154	156					12																	998382		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:998382C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5441C>T	12.37:g.998382C>T	ENSP00000313059:p.Ala1814Val					WNK1_uc001qio.4_Missense_Mutation_p.A1814V|WNK1_uc021qst.1_Missense_Mutation_p.A2066V|WNK1_uc001qip.4_Missense_Mutation_p.A1567V|WNK1_uc001qir.4_Missense_Mutation_p.A987V	p.A2074V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		20	6864	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1814					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6221C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539953	0.45176	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.77	3.95	0.45737	.	0.605320	0.15541	N	0.256926	T	0.32675	0.0837	L	0.29908	0.895	0.27014	N	0.964613	B;B;B	0.18968	0.032;0.032;0.019	B;B;B	0.14023	0.01;0.01;0.004	T	0.21109	-1.0255	10	0.48119	T	0.1	-1.4073	12.7395	0.57243	0.0:0.8663:0.0:0.1337	.	1567;1567;1814	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1567;1814;2074;987;2312;1407	ENSP00000441972:A1567V;ENSP00000313059:A1814V;ENSP00000444465:A2074V;ENSP00000433548:A2312V;ENSP00000341292:A1407V	ENSP00000252477:A987V	A	+	2	0	WNK1	868643	0.762000	0.28451	0.221000	0.23827	0.600000	0.36913	1.202000	0.32271	0.900000	0.36469	0.655000	0.94253	GCG		0.368	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	998382	C	T	998382	3	4	149	1	0	0	0	0	1	0	0	0	17374	768	27	1	7025	1	WNK1	12	998382	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		998382	132853513	40	10196											
RERG	85004	broad.mit.edu	37	chr12	15262109	15262109	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtggtggagctgcgtcGcctcgtcttgccctgcacca	4	10	13	14	4	1	0	0	0	1	0	3	1	1	1	3	2	5	2	3	2	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:15262109G>A	ENST00000256953.2	-	5	871	c.535C>T	c.(535-537)Cga>Tga	p.R179*	RERG_ENST00000546331.1_Nonsense_Mutation_p.R160*|RERG_ENST00000538313.1_Nonsense_Mutation_p.R179*|RERG_ENST00000536465.1_Nonsense_Mutation_p.R179*	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	179					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R179*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCTGCGTCGCCTCGTCTTG	0.532																																						uc001rcs.3																			1	Substitution - Nonsense(1)	p.R179*(2)|p.R178R(1)	endometrium(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(535-537)Cga>Tga		Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.							124	116	119					12																	15262109		2203	4300	6503	SO:0001587	stop_gained	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262109G>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.535C>T	12.37:g.15262109G>A	ENSP00000256953:p.Arg179*					RERG_uc001rct.3_Nonsense_Mutation_p.R179*|RERG_uc010shu.2_Nonsense_Mutation_p.R160*	p.R179*	NM_032918	NP_116307	Q96A58	RERG_HUMAN			3	675	-			179					B2R9R0|B4DI02	Nonsense_Mutation	SNP	ENST00000256953.2	37	c.535C>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480703	0.84747	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	.	.	.	4.56	-1.24	0.09435	.	0.106561	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	14.4665	0.67488	0.0:0.0:0.2328:0.7672	.	.	.	.	X	179;179;179;160	.	ENSP00000256953:R179X	R	-	1	2	RERG	15153376	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	0.944000	0.29043	-0.055000	0.13244	0.655000	0.94253	CGA		0.532	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		A	15262109	G	A	15262109	4	1	149	1	0	0	0	0	0	1	0	0	13232	1095	38	1	68	1	RERG	12	15262109	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	14263727	15262109	118589786	41	10197											
AVPR1A	552	broad.mit.edu	37	chr12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcacccttgctctggcGcgacgccgtcttcccgcgga	3	9	11	18	6	3	0	0	0	3	0	4	2	4	1	3	2	2	2	3	2	0	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	254					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.R254C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617																																						uc001sro.1																			1	Substitution - Missense(1)	p.R254C(2)|p.S253*(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(760-762)Cgc>Tgc		Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						96	96	96					12																	63543857		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543857G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.760C>T	12.37:g.63543857G>A	ENSP00000299178:p.Arg254Cys						p.R254C	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	0	2734	-			254						Missense_Mutation	SNP	ENST00000299178.2	37	c.760C>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921813	0.33908	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.73469	-0.75;-0.75	5.29	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001512	T	0.59115	0.2170	L	0.39514	1.22	0.21220	N	0.999759	B	0.19817	0.039	B	0.21546	0.035	T	0.40270	-0.9572	9	.	.	.	-13.3074	5.8336	0.18594	0.1974:0.3561:0.4465:0.0	.	254	P37288	V1AR_HUMAN	C	35;254	ENSP00000449822:R35C;ENSP00000299178:R254C	.	R	-	1	0	AVPR1A	61830124	0.001000	0.12720	0.135000	0.22099	0.903000	0.53119	0.341000	0.19909	1.224000	0.43551	0.455000	0.32223	CGC		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			A	63543857	G	A	63543857	3	1	149	1	0	0	0	0	1	0	0	0	1231	1087	38	1	504	1	AVPR1A	12	63543857	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	48281748	63543857	70308038	42	10198											
SYT1	6857	broad.mit.edu	37	chr12	79693293	79693293	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattttggccatgtaactGaggaatggcgtgacctgcaa	10	11	13	7	1	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:79693293G>T	ENST00000261205.4	+	8	1429	c.772G>T	c.(772-774)Gag>Tag	p.E258*	SYT1_ENST00000457153.2_Nonsense_Mutation_p.E255*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.E258*|SYT1_ENST00000552744.1_Nonsense_Mutation_p.E258*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	258	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCATGTAACTGAGGAATGGCG	0.418																																						uc001sys.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(772-774)Gag>Tag		Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.							147	136	140					12																	79693293		2203	4299	6502	SO:0001587	stop_gained	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79693293G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.772G>T	12.37:g.79693293G>T	ENSP00000261205:p.Glu258*					SYT1_uc001syt.3_Nonsense_Mutation_p.E258*|SYT1_uc001syu.3_Nonsense_Mutation_p.E255*|SYT1_uc001syv.3_Nonsense_Mutation_p.E258*	p.E258*	NM_001135805	NP_005630	P21579	SYT1_HUMAN			8	1443	+			258			Phospholipid binding (Probable).		Q6AI31	Nonsense_Mutation	SNP	ENST00000261205.4	37	c.772G>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118438	0.97300	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.6572	0.95847	0.0:0.0:1.0:0.0	.	.	.	.	X	258;258;255;258	.	ENSP00000261205:E258X	E	+	1	0	SYT1	78217424	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.869000	0.99810	2.630000	0.89119	0.650000	0.86243	GAG		0.418	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		T	79693293	G	T	79693293	4	4	149	1	0	0	0	0	0	1	0	0	15462	1291	45	5	790	5	SYT1	12	79693293	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	16149436	79693293	54158602	43	10199											
KSR2	283455	broad.mit.edu	37	chr12	118198971	118198971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttcttcctcatgggCggcgtgcccggcggggtcac	2	12	14	13	4	4	0	2	0	2	0	5	0	5	0	2	5	1	1	2	5	0	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:118198971C>T	ENST00000339824.5	-	4	1558	c.831G>A	c.(829-831)ccG>ccA	p.P277P	KSR2_ENST00000425217.1_Silent_p.P248P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701																																						uc001two.2																			0		p.P248P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(742-744)ccG>ccA		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							86	104	98					12																	118198971		1872	4098	5970	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198971C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.831G>A	12.37:g.118198971C>T							p.P248P	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			3	799	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		277			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.744G>A																																																																																					0.701	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	118198971	C	T	118198971	2	4	149	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198971	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	38505678	118198971	15652924	44	10200											
MTUS2	23281	broad.mit.edu	37	chr13	29675102	29675102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagagcagggccggccagCcacccgtaagtggggtgggg	7	3	19	12	2	0	1	0	0	0	1	0	1	0	1	5	6	2	2	5	6	1	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:29675102C>T	ENST00000431530.3	+	3	2727	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	880	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCGGCCAGCCACCCGTAAG	0.582																																						uc001usl.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2668-2670)gCc>gTc		Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.							4	5	5					13																	29675102		1936	4065	6001	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29675102C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2669C>T	13.37:g.29675102C>T	ENSP00000392057:p.Ala890Val						p.A890V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2727	+			880			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2669C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452576	0.12283	.	.	ENSG00000132938	ENST00000431530	T	0.14766	2.48	5.23	2.27	0.28462	.	0.533289	0.15577	N	0.255106	T	0.07773	0.0195	N	0.20401	0.57	0.47511	D	0.999448	B	0.23249	0.082	B	0.26202	0.067	T	0.32508	-0.9904	9	.	.	.	.	5.0686	0.14594	0.1614:0.6453:0.0:0.1933	.	880	Q5JR59	MTUS2_HUMAN	V	890	ENSP00000392057:A890V	.	A	+	2	0	MTUS2	28573102	0.808000	0.29022	0.042000	0.18584	0.005000	0.04900	2.311000	0.43717	0.103000	0.17682	0.563000	0.77884	GCC		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29675102	C	T	29675102	3	4	149	1	0	0	0	0	1	0	0	0	9966	739	26	3	2679	3	MTUS2	13	29675102	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		29675102	85494776	45	10201											
PDS5B	23047	broad.mit.edu	37	chr13	33327545	33327545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtttacggcttccacttGagtatatggcaatctgtgcc	7	13	9	12	2	1	1	0	1	1	0	2	1	2	1	3	2	2	4	3	2	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:33327545G>C	ENST00000315596.10	+	25	2998	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	938					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTCCACTTGAGTATATGGC	0.413																																						uc010abf.3																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(2812-2814)Gag>Cag		Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.							132	121	125					13																	33327545		1845	4105	5950	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33327545G>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2812G>C	13.37:g.33327545G>C	ENSP00000313851:p.Glu938Gln					PDS5B_uc010abg.3_Non-coding_Transcript	p.E938Q	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	24	2998	+		Lung SC(185;0.0367)	938					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2812G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281964	0.95489	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.68765	-0.35	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.095752	0.64402	D	0.000001	T	0.74981	0.3788	L	0.54323	1.7	0.80722	D	1	D	0.56035	0.974	P	0.55087	0.768	T	0.74985	-0.3477	10	0.46703	T	0.11	-22.3529	19.1582	0.93520	0.0:0.0:1.0:0.0	.	938	Q9NTI5	PDS5B_HUMAN	Q	938	ENSP00000313851:E938Q	ENSP00000313851:E938Q	E	+	1	0	PDS5B	32225545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.521000	0.84997	0.484000	0.47621	GAG		0.413	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		C	33327545	G	C	33327545	3	2	149	1	0	0	0	0	1	0	0	0	11692	1291	45	5	2906	5	PDS5B	13	33327545	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	3652443	33327545	81842333	46	10202											
GPR180	160897	broad.mit.edu	37	chr13	95275364	95275364	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtttttcttttgcagaGtgttttgctactttgggaac	6	21	9	5	0	1	1	0	0	1	1	1	2	1	2	0	1	4	4	0	1	3	10			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:95275364G>C	ENST00000376958.4	+	7	921	c.896G>C	c.(895-897)aGt>aCt	p.S299T		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	299					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTTTGCAGAGTGTTTTGCTA	0.299																																						uc001vly.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.e7-1		Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.							124	121	122					13																	95275364		2203	4300	6503	SO:0001630	splice_region_variant	160897					integral to membrane		g.chr13:95275364G>C	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.895-1G>C	13.37:g.95275364G>C						GPR180_uc001vlz.3_Splice_Site_p.S198_splice|GPR180_uc010afi.3_Splice_Site_p.S60_splice	p.S299_splice	NM_180989	NP_851320	Q86V85	GP180_HUMAN			7	973	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		299					A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.895_splice	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	G	4.468	0.086658	0.08583	.	.	ENSG00000152749	ENST00000376958	T	0.42131	0.98	5.53	5.53	0.82687	Rhodopsin-like GPCR transmembrane domain (1);	0.092042	0.85682	D	0.000000	T	0.37705	0.1013	L	0.51422	1.61	0.40855	D	0.983786	B	0.17667	0.023	B	0.15052	0.012	T	0.15607	-1.0431	10	0.22706	T	0.39	-8.9835	14.3223	0.66493	0.0:0.0:0.8517:0.1483	.	299	Q86V85	GP180_HUMAN	T	299	ENSP00000366157:S299T	ENSP00000366157:S299T	S	+	2	0	GPR180	94073365	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	4.882000	0.63121	2.580000	0.87095	0.561000	0.74099	AGT		0.299	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989	Missense_Mutation	C	95275364	G	C	95275364	5	2	149	1	0	0	0	0	0	0	1	0	6676	1043	36	5	922	5	GPR180	13	95275364	Splice_Site	SNP	G	TCGA-16-0861-01A-01W-0424-08	61947819	95275364	19894514	47	10203											
GZMB	3002	broad.mit.edu	37	chr14	25101153	25101153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtcagattcgcactttcGatcttcctgcactgtcatct	8	15	6	12	2	4	1	2	0	2	1	7	2	5	1	1	0	1	2	1	0	1	4	rs199605460		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:25101153G>A	ENST00000216341.4	-	4	617	c.511C>T	c.(511-513)Cga>Tga	p.R171*	GZMB_ENST00000382542.1_Nonsense_Mutation_p.R205*|GZMB_ENST00000382540.1_Nonsense_Mutation_p.R126*|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Nonsense_Mutation_p.R159*|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R205*(1)|p.R171*(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCGCACTTTCGATCTTCCTGC	0.517																																						uc001wps.2																			2	Substitution - Nonsense(2)	p.R171*(2)|p.R205*(1)	large_intestine(2)	endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(511-513)Cga>Tga		Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.							161	151	154					14																	25101153		2203	4300	6503	SO:0001587	stop_gained	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101153G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.511C>T	14.37:g.25101153G>A	ENSP00000216341:p.Arg171*					GZMB_uc010ama.2_Nonsense_Mutation_p.R159*|GZMB_uc010amb.2_Non-coding_Transcript	p.R171*	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	3	577	-			171			Peptidase S1.		Q8N1D2|Q9UCC1	Nonsense_Mutation	SNP	ENST00000216341.4	37	c.511C>T	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	g	12.41	1.928929	0.34002	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	.	.	.	5.3	-5.55	0.02536	.	1.857220	0.03740	N	0.254823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	1.315	0.02105	0.2399:0.3664:0.1846:0.209	.	.	.	.	X	159;171;205;126;76	.	ENSP00000216341:R171X	R	-	1	2	GZMB	24170993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.161000	0.01278	-1.007000	0.03408	-0.868000	0.02995	CGA		0.517	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		A	25101153	G	A	25101153	4	1	149	1	0	0	0	0	0	1	0	0	6916	1066	37	2	240	2	GZMB	14	25101153	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		25101153	82248387	48	10204											
HEATR5A	25938	broad.mit.edu	37	chr14	31852819	31852835	+	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA	-																															gaagccagtcactgcttcagGtgaagacttatgtccagtaa																								rs201904415	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	ENST00000389961.3	-	9	1469_1485	c.1470_1486delTGGACATAAGTCTTCAC	c.(1468-1488)actggacataagtcttcacctfs	p.GHKSSP491fs	HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.GHKSSP497fs|HEATR5A_ENST00000543095.2_Frame_Shift_Del_p.GHKSSP497fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.GHKSSP204fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.GHKSSP491fs			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	491								p.G491>?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT	0.461																																						uc001wrf.4																			1	Complex(1)	p.G491>?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1486-1506)actggacataagtcttcacctfs		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.																																				SO:0001589	frameshift_variant	25938						binding	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1470_1486delTGGACATAAGTCTTCAC	14.37:g.31852819_31852835delGTGAAGACTTATGTCCA	ENSP00000374611:p.Gly491fs					HEATR5A_uc010ami.3_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs	p.T496fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	9	1673_1689	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		490					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Frame_Shift_Del	DEL	ENST00000389961.3	37	c.1488_1504delTGGACATAAGTCTTCAC																																																																																					0.461	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		-	31852835	GTGAAGACTTATGTCCA	-	31852819	7	5	149	1	0	1	0	1	0	0	0	0	7031	1261	44	0	4744	0	HEATR5A	14	31852819	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	TCGA-16-0861-01A-01W-0424-08	6751666	31852819	75496721	49	10205											
NIN	51199	broad.mit.edu	37	chr14	51239167	51239167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgaggttgtggtacgtCgtccactctcatcgaaagac	9	11	11	10	3	1	3	1	2	1	1	5	4	2	3	1	2	1	2	1	2	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:51239167C>T	ENST00000382041.3	-	9	1023	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	NIN_ENST00000245441.5_Missense_Mutation_p.R278Q|NIN_ENST00000453196.1_Missense_Mutation_p.R278Q|NIN_ENST00000382043.4_Missense_Mutation_p.R278Q|NIN_ENST00000389868.3_Missense_Mutation_p.R278Q|NIN_ENST00000324330.9_Missense_Mutation_p.R278Q|NIN_ENST00000530997.2_Missense_Mutation_p.R278Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGGTACGTCGTCCACTCTC	0.498			T	PDGFRB	MPD																																	uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(832-834)cGa>cAa		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							100	79	86					14																	51239167		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239167C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.833G>A	14.37:g.51239167C>T	ENSP00000371472:p.Arg278Gln					NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R278Q|NIN_uc001wyk.3_Missense_Mutation_p.R278Q|NIN_uc001wyo.3_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	p.R278Q	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			8	1024	-	all_epithelial(31;0.00244)|Breast(41;0.127)		278					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.833G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958419	0.92726	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.65	5.65	0.86999	EF-hand-like domain (1);	0.052990	0.64402	D	0.000001	T	0.48943	0.1528	L	0.56769	1.78	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.997;0.994;0.99	T	0.21211	-1.0252	10	0.34782	T	0.22	-12.3615	18.7058	0.91637	0.0:1.0:0.0:0.0	.	284;278;278;278;278	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Q	278;278;278;278;284;278;278;278;240	ENSP00000245441:R278Q;ENSP00000374518:R278Q;ENSP00000371474:R278Q;ENSP00000371472:R278Q;ENSP00000324210:R278Q;ENSP00000412391:R278Q;ENSP00000398641:R240Q	ENSP00000245441:R278Q	R	-	2	0	NIN	50308917	0.999000	0.42202	0.977000	0.42913	0.733000	0.41908	7.437000	0.80417	2.670000	0.90874	0.563000	0.77884	CGA		0.498	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51239167	C	T	51239167	3	4	149	1	0	0	0	0	1	0	0	0	10417	884	31	2	5808	2	NIN	14	51239167	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	19386348	51239167	56110373	50	10206											
SMEK1	55671	broad.mit.edu	37	chr14	91948148	91948148	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttcgtggttgtgataaAgcaggatcatattctaaaca	12	15	9	5	1	2	1	1	1	1	0	3	2	2	2	0	2	2	3	0	2	5	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:91948148A>G	ENST00000554943.1	-	4	802	c.687T>C	c.(685-687)gcT>gcC	p.A229A	SMEK1_ENST00000554684.1_Silent_p.A229A|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.A229A			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	229					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTGTGATAAAGCAGGATCAT	0.353																																						uc001xzn.3																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(685-687)gcT>gcC		Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.							159	148	152					14																	91948148		2203	4300	6503	SO:0001819	synonymous_variant	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91948148A>G	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.687T>C	14.37:g.91948148A>G						SMEK1_uc001xzm.3_Silent_p.A229A|SMEK1_uc001xzo.3_Silent_p.A229A|SMEK1_uc010atz.3_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Silent_p.A105A	p.A229A	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	3	1509	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	229					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Silent	SNP	ENST00000554943.1	37	c.687T>C		.	.	.	.	.	.	.	.	.	.	A	9.411	1.080612	0.20309	.	.	ENSG00000100796	ENST00000555470	.	.	.	6.03	4.86	0.63082	.	.	.	.	.	T	0.65101	0.2659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62807	-0.6776	4	.	.	.	-8.9744	12.5499	0.56222	0.8752:0.0:0.0:0.1248	.	.	.	.	L	24	.	.	F	-	1	0	SMEK1	91017901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.024000	0.41049	1.053000	0.40415	0.533000	0.62120	TTT		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		G	91948148	A	G	91948148	2	3	149	1	0	0	0	0	0	0	0	1	14793	59	3	4		4	SMEK1	14	91948148	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	40708981	91948148	15401392	51	10207											
C15orf2	23742	broad.mit.edu	37	chr15	24921847	24921847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcagaagttggctgCggaagtgctgaatgaagagc	11	7	16	7	1	0	4	0	2	0	2	0	5	0	5	0	2	5	6	0	2	4	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:24921847C>T	ENST00000329468.2	+	1	1307	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	278					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AAGTTGGCTGCGGAAGTGCTG	0.602																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(832-834)gCg>gTg		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							38	40	39					15																	24921847		2203	4299	6502	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921847C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.833C>T	15.37:g.24921847C>T	ENSP00000333735:p.Ala278Val						p.A278V	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	1307	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	278						Missense_Mutation	SNP	ENST00000329468.2	37	c.833C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.149	0.787038	0.16189	.	.	ENSG00000185823	ENST00000329468	T	0.12147	2.71	2.07	-4.13	0.03904	.	3.581510	0.01020	N	0.003964	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.34255	0.445	B	0.25614	0.062	T	0.14839	-1.0458	10	0.20046	T	0.44	.	1.0595	0.01597	0.2648:0.3968:0.1472:0.1913	.	278	Q9NZP6	CO002_HUMAN	V	278	ENSP00000333735:A278V	ENSP00000333735:A278V	A	+	2	0	C15orf2	22472940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-1.269000	0.02436	-1.963000	0.00474	GCG		0.602	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921847	C	T	24921847	3	4	149	1	0	0	0	0	1	0	0	0	1784	768	27	1	835	1	C15orf2	15	24921847	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		24921847	77609545	52	10208											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109162	42109162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgatccatgtgctggatgCcgggcgggagtacagcctac	7	8	15	11	2	0	1	0	1	0	0	1	3	1	3	3	3	5	3	3	3	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:42109162C>T	ENST00000456763.2	+	15	1854	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A430V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A386V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A547V|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A547V	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	553										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCTGGATGCCGGGCGGGAG	0.582																																						uc001zok.4																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1657-1659)gCc>gTc		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							94	93	93					15																	42109162		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109162C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1658C>T	15.37:g.42109162C>T	ENSP00000393099:p.Ala553Val					MAPKBP1_uc010bci.3_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.2_Missense_Mutation_p.A386V|MAPKBP1_uc001zoj.4_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.3_Missense_Mutation_p.A54V|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.A54V	p.A553V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	14	1944	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	553					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1658C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.976480	0.53720	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.63580	1.72;1.72;1.1;-0.05;1.1	5.63	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	N	0.03881	-0.34	0.53005	D	0.999962	P;B;P;P;B	0.51537	0.946;0.146;0.909;0.879;0.207	P;B;P;P;B	0.55667	0.781;0.31;0.481;0.766;0.171	T	0.49881	-0.8892	10	0.02654	T	1	-11.123	14.5252	0.67884	0.0:0.9302:0.0:0.0698	.	386;430;547;553;547	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	V	547;430;386;553;547	ENSP00000397570:A547V;ENSP00000221214:A430V;ENSP00000260357:A386V;ENSP00000393099:A553V;ENSP00000426154:A547V	ENSP00000221214:A430V	A	+	2	0	MAPKBP1	39896454	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	4.962000	0.63687	1.390000	0.46547	-0.136000	0.14681	GCC		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		T	42109162	C	T	42109162	3	4	149	1	0	0	0	0	1	0	0	0	9292	739	26	3	1712	3	MAPKBP1	15	42109162	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	17187315	42109162	60422230	53	10209											
TLN2	83660	broad.mit.edu	37	chr15	63127965	63127965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgccaatgctgcagaCgacggacagtggtcacaggg	10	6	13	12	2	1	1	1	0	0	1	2	3	2	2	2	3	3	2	2	3	1	0	rs139730009		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:63127965C>T	ENST00000561311.1	+	55	7388	c.7158C>T	c.(7156-7158)gaC>gaT	p.D2386D	RP11-1069G10.1_ENST00000558888.1_RNA|RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.D2386D			Q9Y4G6	TLN2_HUMAN	talin 2	2386	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2386D(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGCTGCAGACGACGGACAGT	0.597													C|||	1	0.000199681	0	0	5008	,	,		20476	0		0.001	False		,,,				2504	0					uc002alb.4																			1	Substitution - coding silent(1)	p.D2386D(2)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7156-7158)gaC>gaT		Homo sapiens talin 2 (TLN2), mRNA.		C		0,4406		0,0,2203	191	194	193		7158	-2.9	0.9	15	dbSNP_134	193	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TLN2	NM_015059.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		2386/2543	63127965	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63127965C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7158C>T	15.37:g.63127965C>T						TLN2_uc002alc.4_Silent_p.D779D|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	p.D2386D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			52	7158	+			2386			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7158C>T	CCDS32261.1																																																																																				0.597	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63127965	C	T	63127965	2	4	149	1	0	0	0	0	0	0	0	1	15945	535	19	1		1	TLN2	15	63127965	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	21018803	63127965	39403427	54	10210											
SV2B	9899	broad.mit.edu	37	chr15	91811770	91811770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttttggtgagcatgtgtaCggcgccacaatcaacttcac	9	13	9	10	2	2	1	2	1	0	0	2	1	2	1	1	2	3	2	1	2	3	5	rs140230861		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:91811770C>T	ENST00000394232.1	+	9	1778	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	SV2B_ENST00000545111.2_Silent_p.Y285Y|SV2B_ENST00000330276.4_Silent_p.Y436Y	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	436					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGCATGTGTACGGCGCCACAA	0.418																																						uc002bqv.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1306-1308)taC>taT		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.		C	,	0,4396		0,0,2198	154	147	149		855,1308	-11	0.7	15	dbSNP_134	149	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	285/533,436/684	91811770	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91811770C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1308C>T	15.37:g.91811770C>T						SV2B_uc002bqt.3_Silent_p.Y436Y|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.Y285Y	p.Y436Y	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		9	2199	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		436					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1308C>T	CCDS10370.1																																																																																				0.418	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91811770	C	T	91811770	2	4	149	1	0	0	0	0	0	0	0	1	15415	547	19	1		1	SV2B	15	91811770	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	28683805	91811770	10719622	55	10211											
ATXN2L	11273	broad.mit.edu	37	chr16	28844550	28844550	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggataaggaggacaaaccAcccctggcaccatcaggagg	13	4	12	12	1	1	0	1	0	0	0	2	4	1	4	4	6	1	1	4	6	2	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:28844550A>T	ENST00000336783.4	+	14	1997	c.1830A>T	c.(1828-1830)ccA>ccT	p.P610P	ATXN2L_ENST00000340394.8_Silent_p.P610P|ATXN2L_ENST00000325215.6_Silent_p.P610P|ATXN2L_ENST00000570200.1_Silent_p.P610P|ATXN2L_ENST00000565845.1_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.P610P|ATXN2L_ENST00000395547.2_Silent_p.P610P|ATXN2L_ENST00000564304.1_Silent_p.P616P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	610					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACAAACCACCCCTGGCAC	0.592																																						uc002dqy.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1828-1830)ccA>ccT		Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.							71	73	72					16																	28844550		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28844550A>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1830A>T	16.37:g.28844550A>T						NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.P586P|ATXN2L_uc002dqz.3_Silent_p.P610P|ATXN2L_uc002dra.3_Silent_p.P610P|ATXN2L_uc002drb.3_Silent_p.P610P|ATXN2L_uc002drc.3_Silent_p.P610P|ATXN2L_uc010vdb.2_Silent_p.P616P|ATXN2L_uc002dre.3_Silent_p.P610P|ATXN2L_uc002drf.3_Silent_p.P19P|ATXN2L_uc002drg.3_5'Flank	p.P610P	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN			13	1997	+			610					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1830A>T	CCDS10641.1																																																																																				0.592	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		T	28844550	A	T	28844550	2	4	149	1	0	0	0	0	0	0	0	1	1212	146	6	5		5	ATXN2L	16	28844550	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08		28844550	61510203	56	10212											
CCDC135	84229	broad.mit.edu	37	chr16	57741548	57741548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagcctgtggaaccacaaGaactactggatcaacatgca	16	6	9	10	0	1	1	1	0	0	1	1	4	1	3	2	2	6	1	2	2	6	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:57741548G>A	ENST00000360716.3	+	8	1256	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC135_ENST00000394337.4_Silent_p.K345K|CCDC135_ENST00000336825.8_Silent_p.K280K			Q8IY82	CC135_HUMAN		345					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAACCACAAGAACTACTGGA	0.552																																						uc002emi.3																			0		p.K345T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1033-1035)aaG>aaA		Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.							86	67	73					16																	57741548		2196	4298	6494	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57741548G>A																												ENST00000360716.3:c.1035G>A	16.37:g.57741548G>A						CCDC135_uc002emj.3_Silent_p.K345K|CCDC135_uc002emk.3_Silent_p.K280K	p.K345K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			6	1124	+			345					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.1035G>A	CCDS10787.1																																																																																				0.552	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57741548	G	A	57741548	2	1	149	1	0	0	0	0	0	0	0	1	2769	933	33	3		3	CCDC135	16	57741548	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	28896998	57741548	32613205	57	10213											
GUCY2D	3000	broad.mit.edu	37	chr17	7909994	7909994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcagcacccggacctgaccCctcgtgctggttcgatccaa	8	8	9	16	3	1	1	1	1	0	0	4	3	2	2	5	2	2	3	5	2	1	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:7909994C>G	ENST00000254854.4	+	4	1490	c.1340C>G	c.(1339-1341)cCc>cGc	p.P447R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	447					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GGACCTGACCCCTCGTGCTGG	0.612																																						uc002gjt.2																			0				skin(1)	1						c.(1339-1341)cCc>cGc		Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.							21	21	21					17																	7909994		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7909994C>G	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1340C>G	17.37:g.7909994C>G	ENSP00000254854:p.Pro447Arg						p.P447R	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			3	1414	+		Prostate(122;0.157)	447					Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.1340C>G	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534696	0.64972	.	.	ENSG00000132518	ENST00000254854	D	0.86956	-2.19	5.15	5.15	0.70609	.	0.000000	0.43110	D	0.000609	D	0.86243	0.5886	M	0.68317	2.08	0.37606	D	0.920766	P	0.43826	0.818	B	0.38106	0.265	D	0.90334	0.4354	10	0.87932	D	0	.	17.3912	0.87431	0.0:1.0:0.0:0.0	.	447	Q02846	GUC2D_HUMAN	R	447	ENSP00000254854:P447R	ENSP00000254854:P447R	P	+	2	0	GUCY2D	7850719	0.980000	0.34600	0.026000	0.17262	0.227000	0.25037	3.347000	0.52200	2.401000	0.81631	0.561000	0.74099	CCC		0.612	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			G	7909994	C	G	7909994	3	3	149	1	0	0	0	0	1	0	0	0	6897	623	22	5	1350	5	GUCY2D	17	7909994	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		7909994	73285216	58	10214											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400013	13400013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccgggtcccgcaccAccacgatgagcttggtgtcc	6	8	12	15	3	1	1	1	1	0	0	3	2	3	1	5	3	1	2	5	3	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:13400013A>G	ENST00000284110.1	-	2	1519	c.722T>C	c.(721-723)gTg>gCg	p.V241A	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.V39A	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	241					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCCGCACCACCACGATGAG	0.632																																						uc002gob.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(721-723)gTg>gCg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.							38	52	47					17																	13400013		2202	4298	6500	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400013A>G	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.722T>C	17.37:g.13400013A>G	ENSP00000284110:p.Val241Ala						p.V241A	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	1520	-		all_lung(20;0.114)	241					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.722T>C	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516431	0.85495	.	.	ENSG00000153976	ENST00000284110	D	0.85484	-1.99	5.32	4.22	0.49857	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.94335	0.8179	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95182	0.8300	10	0.87932	D	0	.	12.6546	0.56780	0.8615:0.1385:0.0:0.0	.	241	Q9Y663	HS3SA_HUMAN	A	241	ENSP00000284110:V241A	ENSP00000284110:V241A	V	-	2	0	HS3ST3A1	13340738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.193000	0.94954	1.085000	0.41206	0.460000	0.39030	GTG		0.632	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		G	13400013	A	G	13400013	3	3	149	1	0	0	0	0	1	0	0	0	7365	159	6	4	502	4	HS3ST3A1	17	13400013	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	5490019	13400013	67795197	59	10215											
MRC2	9902	broad.mit.edu	37	chr17	60757258	60757258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgctggagcgacggcGtaggggtgagggggcctggg	4	6	24	7	4	0	1	0	1	0	0	0	3	0	2	1	8	1	3	1	8	1	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:60757258G>A	ENST00000303375.5	+	14	2695	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	765	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCGACGGCGTAGGGGTGAG	0.662																																						uc002jad.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2293-2295)Gta>Ata		Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.							23	23	23					17																	60757258		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757258G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2293G>A	17.37:g.60757258G>A	ENSP00000307513:p.Val765Ile					MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	p.V765I	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			13	2695	+			765			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2293G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421912	0.25639	.	.	ENSG00000011028	ENST00000303375	T	0.07908	3.15	4.74	0.269	0.15631	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.435759	0.22843	N	0.054944	T	0.06050	0.0157	L	0.39898	1.24	0.09310	N	0.999997	B	0.25235	0.121	B	0.15484	0.013	T	0.29488	-1.0010	10	0.44086	T	0.13	-2.1216	5.9314	0.19140	0.0:0.5052:0.2569:0.2378	.	765	Q9UBG0	MRC2_HUMAN	I	765	ENSP00000307513:V765I	ENSP00000307513:V765I	V	+	1	0	MRC2	58110990	0.212000	0.23540	0.001000	0.08648	0.294000	0.27393	0.570000	0.23653	-0.058000	0.13177	-0.731000	0.03576	GTA		0.662	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			A	60757258	G	A	60757258	3	1	149	1	0	0	0	0	1	0	0	0	9758	1145	40	1	2347	1	MRC2	17	60757258	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	47357245	60757258	20437952	60	10216											
ARHGAP28	79822	broad.mit.edu	37	chr18	6894892	6894892	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctcggcaagacgaatggTaagaaaaataatttcttttc	15	11	7	8	2	1	2	0	0	1	2	3	3	1	2	1	2	0	2	1	2	6	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:6894892T>C	ENST00000383472.4	+	15	2009		c.e15+2		ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site|ARHGAP28_ENST00000419673.2_Splice_Site|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site|ARHGAP28_ENST00000532996.1_Splice_Site			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGACGAATGGTAAGAAAAATA	0.383																																						uc002knc.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.e15+2		Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.							114	109	111					18																	6894892		2203	4300	6503	SO:0001630	splice_region_variant	79822				signal transduction	intracellular		g.chr18:6894892T>C	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1905+2T>C	18.37:g.6894892T>C						ARHGAP28_uc002kne.3_Splice_Site_p.M476_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.M458_splice|ARHGAP28_uc002knf.3_Splice_Site_p.M467_splice	p.M583_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN			15	4960	+		Colorectal(10;0.168)	458					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Splice_Site	SNP	ENST00000383472.4	37	c.1749_splice		.	.	.	.	.	.	.	.	.	.	T	18.69	3.678306	0.68042	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9461	0.47301	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP28	6884892	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.963000	0.40452	2.148000	0.66965	0.533000	0.62120	.		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	Intron	C	6894892	T	C	6894892	5	2	149	1	0	0	0	0	0	0	1	0	877	1652	57	4	1480	4	ARHGAP28	18	6894892	Splice_Site	SNP	T	TCGA-16-0861-01A-01W-0424-08		6894892	71182356	61	10217											
KIAA0802	23255	broad.mit.edu	37	chr18	8783917	8783917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggtgactccctggaGtcctccactgagctccgccg	4	9	10	18	3	0	2	0	2	0	0	5	3	4	3	6	2	1	1	6	2	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:8783917G>C	ENST00000306329.11	+	5	1887	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D	SOGA2_ENST00000517570.1_Missense_Mutation_p.E269D|SOGA2_ENST00000359865.3_Missense_Mutation_p.E269D|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.E269D																							ACTCCCTGGAGTCCTCCACTG	0.637																																						uc002knr.2																			0											c.(805-807)gaG>gaC		Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.							70	75	73					18																	8783917		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8783917G>C																												ENST00000306329.11:c.1887G>C	18.37:g.8783917G>C	ENSP00000305027:p.Glu629Asp					SOGA2_uc002knq.2_Missense_Mutation_p.E269D|SOGA2_uc010dkw.1_Missense_Mutation_p.E107D	p.E269D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			5	949	+			620			Pro-rich.			Missense_Mutation	SNP	ENST00000306329.11	37	c.807G>C		.	.	.	.	.	.	.	.	.	.	G	8.360	0.832831	0.16820	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.23348	1.91;1.97;1.91	5.81	3.71	0.42584	.	0.000000	0.56097	D	0.000035	T	0.36026	0.0952	M	0.68952	2.095	0.80722	D	1	D;P	0.54047	0.964;0.955	P;P	0.52627	0.704;0.579	T	0.10520	-1.0626	10	0.30078	T	0.28	-24.0984	11.0888	0.48104	0.2192:0.0:0.7808:0.0	.	290;269	A8MQ54;Q9Y4B5-3	.;.	D	290;269;269;269	ENSP00000429556:E269D;ENSP00000352927:E269D;ENSP00000382924:E269D	ENSP00000305027:E290D	E	+	3	2	CCDC165	8773917	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	2.410000	0.44592	1.466000	0.48025	0.650000	0.86243	GAG		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			C	8783917	G	C	8783917	3	2	149	1	0	0	0	0	1	0	0	0	8194	1020	36	5	821	5	KIAA0802	18	8783917	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1889025	8783917	69293331	62	10218											
CIDEA	1149	broad.mit.edu	37	chr18	12274219	12274219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaggccaccatgtatgAgatgtactccgtgtcctacg	9	10	11	11	3	0	2	0	2	0	1	2	3	2	2	4	1	2	2	4	1	4	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:12274219A>T	ENST00000320477.9	+	4	523	c.458A>T	c.(457-459)gAg>gTg	p.E153V	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	153					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACCATGTATGAGATGTACTCC	0.587																																						uc002kqt.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(457-459)gAg>gTg		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.							146	116	126					18																	12274219		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274219A>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.458A>T	18.37:g.12274219A>T	ENSP00000320209:p.Glu153Val					CIDEA_uc002kqu.4_Missense_Mutation_p.E187V|CIDEA_uc010dlc.3_Non-coding_Transcript	p.E153V	NM_001279	NP_001270	O60543	CIDEA_HUMAN			3	523	+			153					B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.458A>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674875	0.67928	.	.	ENSG00000176194	ENST00000320477	T	0.79554	-1.28	5.31	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.87974	0.6313	M	0.74881	2.28	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87729	0.2578	10	0.66056	D	0.02	-43.5708	10.7819	0.46382	0.9245:0.0:0.0755:0.0	.	187;153	Q8N5P9;O60543	.;CIDEA_HUMAN	V	153	ENSP00000320209:E153V	ENSP00000320209:E153V	E	+	2	0	CIDEA	12264219	1.000000	0.71417	0.995000	0.50966	0.771000	0.43674	1.827000	0.39102	0.873000	0.35799	0.533000	0.62120	GAG		0.587	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		T	12274219	A	T	12274219	3	4	149	1	0	0	0	0	1	0	0	0	3425	304	11	5	616	5	CIDEA	18	12274219	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	3490302	12274219	65803029	63	10219											
DSC1	1823	broad.mit.edu	37	chr18	28736015	28736015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatgcacctgctgaacGtgttgtggaaatggacccaa	12	9	12	8	1	0	2	0	2	0	0	0	4	0	4	2	2	3	3	2	2	4	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:28736015G>A	ENST00000257198.5	-	4	723	c.462C>T	c.(460-462)caC>caT	p.H154H	DSC1_ENST00000257197.3_Silent_p.H154H|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	154	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTGCTGAACGTGTTGTGGAA	0.403																																						uc002kwn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(460-462)caC>caT		Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.							127	105	113					18																	28736015		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736015G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.462C>T	18.37:g.28736015G>A						DSC1_uc002kwm.3_Silent_p.H154H	p.H154H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		3	724	-			154			Cadherin 1.		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.462C>T	CCDS11894.1																																																																																				0.403	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28736015	G	A	28736015	2	1	149	1	0	0	0	0	0	0	0	1	4765	1136	40	1		1	DSC1	18	28736015	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	16461796	28736015	49341233	64	10220											
DCC	1630	broad.mit.edu	37	chr18	50977004	50977004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtggctgtgatttgcAcccgacgctcttcagcccag	6	11	10	14	3	3	1	2	1	1	0	4	2	3	1	2	1	2	3	2	1	0	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:50977004A>C	ENST00000442544.2	+	23	3980	c.3364A>C	c.(3364-3366)Acc>Ccc	p.T1122P	DCC_ENST00000581580.1_Missense_Mutation_p.T757P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1122					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGATTTGCACCCGACGCTC	0.483																																						uc002lfe.2																			0		p.T1122T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3364-3366)Acc>Ccc		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							115	93	100					18																	50977004		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50977004A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3364A>C	18.37:g.50977004A>C	ENSP00000389140:p.Thr1122Pro					DCC_uc010dpf.2_Missense_Mutation_p.T757P	p.T1122P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	22	3980	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1122						Missense_Mutation	SNP	ENST00000442544.2	37	c.3364A>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582666	0.46006	.	.	ENSG00000187323	ENST00000442544	T	0.53423	0.62	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.58101	1.795	0.53688	D	0.999975	D	0.76494	0.999	D	0.72982	0.979	T	0.61783	-0.6992	10	0.35671	T	0.21	-11.4467	14.8996	0.70670	1.0:0.0:0.0:0.0	.	1122	P43146	DCC_HUMAN	P	1122	ENSP00000389140:T1122P	ENSP00000389140:T1122P	T	+	1	0	DCC	49231002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.888000	0.75622	2.168000	0.68352	0.528000	0.53228	ACC		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50977004	A	C	50977004	3	2	149	1	0	0	0	0	1	0	0	0	4282	159	6	5	3454	5	DCC	18	50977004	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	22240989	50977004	27100244	65	10221											
ZFR2	23217	broad.mit.edu	37	chr19	3825268	3825268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgggtctcttggccagCgctggcctgctcgaggcaca	5	7	14	15	3	1	0	0	0	1	0	3	1	1	0	3	4	2	3	3	4	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:3825268C>T	ENST00000262961.4	-	7	1183	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	391							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTTGGCCAGCGCTGGCCTGC	0.672																																						uc002lyw.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1171-1173)gcG>gcA		Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3825268C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1173G>A	19.37:g.3825268C>T						ZFR2_uc010xhx.1_Intron	p.A391A	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	6	1185	-			391						Silent	SNP	ENST00000262961.4	37	c.1173G>A	CCDS45921.1																																																																																				0.672	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3825268	C	T	3825268	2	4	149	1	0	0	0	0	0	0	0	1	17657	755	27	1		1	ZFR2	19	3825268	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08		3825268	55303715	66	10222											
INSR	3643	broad.mit.edu	37	chr19	7184472	7184472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagttcacacagcgccagtCctggaagtggtagtacgggg	10	7	15	9	2	1	0	1	0	0	0	2	2	2	1	2	4	2	3	2	4	4	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:7184472C>T	ENST00000302850.5	-	3	971	c.829G>A	c.(829-831)Gac>Aac	p.D277N	INSR_ENST00000341500.5_Missense_Mutation_p.D277N	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	277	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAGCGCCAGTCCTGGAAGTGG	0.602																																						uc002mgd.1																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(829-831)Gac>Aac		Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						68	56	60					19																	7184472		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7184472C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.829G>A	19.37:g.7184472C>T	ENSP00000303830:p.Asp277Asn					INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.3_Missense_Mutation_p.D277N	p.D277N	NM_000208	NP_000199	P06213	INSR_HUMAN			2	938	-			277			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.829G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868051	0.51588	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97066	-4.23;-4.23	5.01	5.01	0.66863	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.134911	0.33217	N	0.005152	D	0.92198	0.7526	N	0.11927	0.2	0.42558	D	0.993133	B;B;B	0.12630	0.006;0.003;0.003	B;B;B	0.15870	0.014;0.013;0.014	D	0.88955	0.3389	10	0.23891	T	0.37	.	15.8361	0.78799	0.0:1.0:0.0:0.0	.	268;277;277	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	N	277	ENSP00000303830:D277N;ENSP00000342838:D277N	ENSP00000303830:D277N	D	-	1	0	INSR	7135472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.731000	0.68554	2.319000	0.78375	0.655000	0.94253	GAC		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			T	7184472	C	T	7184472	3	4	149	1	0	0	0	0	1	0	0	0	7773	855	30	3	3399	3	INSR	19	7184472	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	3359204	7184472	51944511	67	10223											
RAB11B	9230	broad.mit.edu	37	chr19	8468383	8468383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacgtggtggacatcagcGtgccgcccaccacggacgga	10	4	13	14	5	1	0	1	0	0	0	1	3	1	3	3	4	3	0	3	4	1	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:8468383G>A	ENST00000328024.6	+	5	816	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	200					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GGACATCAGCGTGCCGCCCAC	0.647																																						uc002mju.4																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(598-600)Gtg>Atg		Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.							126	107	113					19																	8468383		2203	4300	6503	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8468383G>A	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.598G>A	19.37:g.8468383G>A	ENSP00000333547:p.Val200Met					RAB11B_uc021uof.1_Non-coding_Transcript	p.V200M	NM_004218	NP_004209	Q15907	RB11B_HUMAN			4	694	+			200					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.598G>A	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.769047	0.31320	.	.	ENSG00000185236	ENST00000328024	T	0.63417	-0.04	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	N	0.19112	0.55	0.54753	D	0.999989	B	0.32010	0.351	B	0.25759	0.063	T	0.53627	-0.8412	10	0.72032	D	0.01	.	17.7147	0.88332	0.0:0.0:1.0:0.0	.	200	Q15907	RB11B_HUMAN	M	200	ENSP00000333547:V200M	ENSP00000333547:V200M	V	+	1	0	RAB11B	8374383	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	5.332000	0.65911	2.763000	0.94921	0.655000	0.94253	GTG		0.647	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		A	8468383	G	A	8468383	3	1	149	1	0	0	0	0	1	0	0	0	12892	1145	40	1	616	1	RAB11B	19	8468383	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1283911	8468383	50660600	68	10224											
ZNF527	84503	broad.mit.edu	37	chr19	37879435	37879435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatctctactgggaaaagaGacaatgaatttagtaattct	17	12	7	5	0	2	2	0	1	2	1	3	4	2	3	0	1	1	1	0	1	8	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:37879435G>C	ENST00000436120.2	+	5	591	c.484G>C	c.(484-486)Gac>Cac	p.D162H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAAAGAGACAATGAATT	0.378																																						uc010efk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(484-486)Gac>Cac		Homo sapiens zinc finger protein 527 (ZNF527), mRNA.							86	81	83					19																	37879435		1828	4084	5912	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879435G>C	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.484G>C	19.37:g.37879435G>C	ENSP00000390179:p.Asp162His					ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_Non-coding_Transcript	p.D162H	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	595	+			162					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.484G>C	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.253292	0.00268	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.04	-2.49	0.06403	.	.	.	.	.	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.23726	-1.0180	8	0.59425	D	0.04	.	7.4174	0.27053	0.1743:0.3572:0.4686:0.0	.	162;130	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	H	162;130;110	.	ENSP00000325231:D130H	D	+	1	0	ZNF527	42571275	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.018000	0.12568	-0.563000	0.06078	-2.479000	0.00199	GAC		0.378	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		C	37879435	G	C	37879435	3	2	149	1	0	0	0	0	1	0	0	0	17965	942	33	5	498	5	ZNF527	19	37879435	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	29411052	37879435	21249548	69	10225											
GSS	2937	broad.mit.edu	37	chr20	33516696	33516696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccatctgcatgctcgaTggctttggttcgaagtagat	9	12	10	10	2	1	1	0	0	1	1	3	3	1	1	2	2	2	5	2	2	2	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr20:33516696T>A	ENST00000216951.2	-	13	1458	c.1360A>T	c.(1360-1362)Atc>Ttc	p.I454F	GSS_ENST00000541098.1_Missense_Mutation_p.I326F|GSS_ENST00000451957.2_Missense_Mutation_p.I343F	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	454					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCATGCTCGATGGCTTTGGTT	0.562																																						uc002xbg.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(1360-1362)Atc>Ttc		Homo sapiens glutathione synthetase (GSS), mRNA.	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						202	134	157					20																	33516696		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33516696T>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1360A>T	20.37:g.33516696T>A	ENSP00000216951:p.Ile454Phe					GSS_uc010zun.2_Missense_Mutation_p.I326F|GSS_uc010zuo.2_Missense_Mutation_p.I343F|GSS_uc010zup.2_Missense_Mutation_p.I385F	p.I454F	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		12	1440	-			454					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.1360A>T	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717331	0.48622	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90788	-2.73;-2.73;-2.73	4.95	2.62	0.31277	ATP-grasp fold, subdomain 2 (1);	0.437404	0.26453	N	0.024293	D	0.86527	0.5954	L	0.50333	1.59	0.34854	D	0.741981	P;P	0.52463	0.953;0.622	B;B	0.43680	0.427;0.347	D	0.86254	0.1651	10	0.52906	T	0.07	-2.1582	7.6065	0.28105	0.0:0.3081:0.0:0.6919	.	343;454	B6F210;P48637	.;GSHB_HUMAN	F	454;326;343	ENSP00000216951:I454F;ENSP00000439744:I326F;ENSP00000407517:I343F	ENSP00000216951:I454F	I	-	1	0	GSS	32980357	0.682000	0.27624	0.960000	0.40013	0.998000	0.95712	0.338000	0.19858	0.355000	0.24131	0.459000	0.35465	ATC		0.562	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			A	33516696	T	A	33516696	3	1	149	1	0	0	0	0	1	0	0	0	6829	1464	51	5	68	5	GSS	20	33516696	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08		33516696	29508824	70	10226											
MED15	51586	broad.mit.edu	37	chr22	20939408	20939408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtggtgtgcacccGgaagcgcaggcttgaggatg	7	6	17	11	2	0	1	0	1	0	0	0	3	0	3	3	5	2	3	3	5	1	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:20939408G>A	ENST00000263205.7	+	16	2054	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	MED15_ENST00000541476.1_Missense_Mutation_p.R596Q|MED15_ENST00000382974.2_Missense_Mutation_p.R551Q|MED15_ENST00000406969.1_Missense_Mutation_p.R596Q|MED15_ENST00000292733.7_Missense_Mutation_p.R622Q|MED15_ENST00000425759.2_Missense_Mutation_p.R511Q|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	662					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTGCACCCGGAAGCGCAGG	0.682																																						uc002zsp.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1984-1986)cGg>cAg		Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.							57	53	55					22																	20939408		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939408G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1985G>A	22.37:g.20939408G>A	ENSP00000263205:p.Arg662Gln					MED15_uc002zsq.3_Missense_Mutation_p.R622Q|MED15_uc010gso.3_Missense_Mutation_p.R605Q|MED15_uc002zsr.3_Missense_Mutation_p.R596Q|MED15_uc011ahs.2_Missense_Mutation_p.R596Q|MED15_uc002zss.3_Missense_Mutation_p.R541Q|MED15_uc011ahu.2_Missense_Mutation_p.R372Q|MED15_uc002zst.3_Missense_Mutation_p.R278Q|MED15_uc002zsu.3_Missense_Mutation_p.R267Q	p.R662Q	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		15	2065	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	662					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1985G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066390	0.36470	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.93	4.93	0.64822	Mediator complex, subunit Med15, metazoa (1);	0.060735	0.64402	D	0.000004	T	0.59074	0.2167	L	0.47716	1.5	0.80722	D	1	P;P;B;P;B;P	0.51240	0.694;0.844;0.268;0.812;0.433;0.943	B;B;B;B;B;P	0.49012	0.117;0.379;0.028;0.261;0.033;0.598	T	0.63479	-0.6628	9	0.66056	D	0.02	.	13.9929	0.64378	0.0:0.0:1.0:0.0	.	592;641;278;596;622;662	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	Q	511;622;662;596;551;596;592	.	ENSP00000263205:R662Q	R	+	2	0	MED15	19269408	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	7.756000	0.85195	2.442000	0.82660	0.561000	0.74099	CGG		0.682	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		A	20939408	G	A	20939408	3	1	149	1	0	0	0	0	1	0	0	0	9433	1116	39	2	2047	2	MED15	22	20939408	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		20939408	30365158	71	10227											
NCAPH2	29781	broad.mit.edu	37	chr22	50956414	50956414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcaggaggtcctcatcAtccccctcctgcccatggcc	6	8	8	19	0	2	0	2	0	0	0	5	1	5	1	7	3	2	1	7	3	0	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:50956414A>G	ENST00000420993.2	+	6	555	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	NCAPH2_ENST00000395698.3_Missense_Mutation_p.I145V|NCAPH2_ENST00000395701.3_Missense_Mutation_p.I145V|NCAPH2_ENST00000299821.11_Missense_Mutation_p.I145V	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	145					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTCATCATCCCCCTCCT	0.612																																						uc003blx.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(433-435)Atc>Gtc		Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.							69	66	67					22																	50956414		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956414A>G	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.433A>G	22.37:g.50956414A>G	ENSP00000410088:p.Ile145Val					NCAPH2_uc003blq.4_Missense_Mutation_p.I145V|NCAPH2_uc003blv.3_Missense_Mutation_p.I145V|NCAPH2_uc003blr.4_Missense_Mutation_p.I145V	p.I145V	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	5	555	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	145					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.433A>G	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.634|8.634	0.894477|0.894477	0.17613|0.17613	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000496227|ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.|.	.|.	.|.	5.01|5.01	-10.0|-10.0	0.00425|0.00425	.|.	.|0.764374	.|0.12401	.|N	.|0.472131	T|T	0.09730|0.09730	0.0239|0.0239	N|N	0.04387|0.04387	-0.21|-0.21	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.001;0.002;0.001	T|T	0.22103|0.22103	-1.0226|-1.0226	6|9	0.10902|0.13853	T|T	0.67|0.58	-8.2611|-8.2611	5.06|5.06	0.14551|0.14551	0.5524:0.092:0.2633:0.0923|0.5524:0.092:0.2633:0.0923	.|.	.|145;145;145;145	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.|.;.;CNDH2_HUMAN;.	R|V	85|145;145;145;111;145	.|.	ENSP00000355052:H144R|ENSP00000299821:I145V	H|I	+|+	2|1	0|0	NCAPH2|NCAPH2	49303280|49303280	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.370000|0.370000	0.29829|0.29829	-0.176000|-0.176000	0.09811|0.09811	-1.176000|-1.176000	0.02747|0.02747	-1.763000|-1.763000	0.00667|0.00667	CAT|ATC		0.612	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		G	50956414	A	G	50956414	3	3	149	1	0	0	0	0	1	0	0	0	10210	217	8	4	455	4	NCAPH2	22	50956414	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	30017006	50956414	348152	72	10228											
F9	2158	broad.mit.edu	37	chrX	138643014	138643014	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaattacagttgtcgcaGgtaaatacacagaaagaata	19	10	7	5	1	0	2	0	0	0	2	1	2	0	2	0	1	2	3	0	1	9	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138643014G>A	ENST00000218099.2	+	7	845	c.838G>A	c.(838-840)Ggt>Agt	p.G280S	F9_ENST00000394090.2_Splice_Site_p.G242S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	280	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM057674|CM057675	F9	M		c.e7+1		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						157	139	145					X																	138643014		2203	4300	6503	SO:0001630	splice_region_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643014G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.838+1G>A	X.37:g.138643014G>A						F9_uc004fat.1_Splice_Site_p.G242_splice	p.G280_splice	NM_000133	NP_000124	P00740	FA9_HUMAN			7	867	+	Acute lymphoblastic leukemia(192;0.000127)		280			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.838_splice	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978076	0.74360	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.97016	-4.21;-4.21	5.84	5.84	0.93424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99568	1.0970	10	0.87932	D	0	.	16.3112	0.82872	0.0:0.0:1.0:0.0	.	242;280	Q5FBE1;P00740	.;FA9_HUMAN	S	280;242	ENSP00000218099:G280S;ENSP00000377650:G242S	ENSP00000218099:G280S	G	+	1	0	F9	138470680	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.978000	0.76147	2.457000	0.83068	0.544000	0.68410	GGT		0.343	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		Missense_Mutation	A	138643014	G	A	138643014	5	1	149	1	0	0	0	0	0	0	1	0	5351	1014	35	3	864	3	F9	23	138643014	Splice_Site	SNP	G	TCGA-16-0861-01A-01W-0424-08		138643014	16627546	73	10229											
ATP11C	286410	broad.mit.edu	37	chrX	138864837	138864837	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgttaattctttcataAtcatctggagcaatttcttt	9	20	5	7	0	6	0	2	0	4	0	6	1	6	1	0	1	1	2	0	1	3	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138864837A>G	ENST00000327569.3	-	18	1928	c.1830T>C	c.(1828-1830)gaT>gaC	p.D610D	ATP11C_ENST00000359686.2_Silent_p.D610D|ATP11C_ENST00000370557.1_Silent_p.D607D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.D610D|ATP11C_ENST00000370543.1_Silent_p.D610D	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	610					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTCATAATCATCTGGAG	0.353																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1828-1830)gaT>gaC		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							91	81	84					X																	138864837		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138864837A>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1830T>C	X.37:g.138864837A>G						ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.D610D	p.D610D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			17	1929	-	Acute lymphoblastic leukemia(192;0.000127)		610					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1830T>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	9.538	1.112697	0.20795	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.68	1.62	0.23740	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31364	-0.9946	4	.	.	.	.	0.8895	0.01251	0.3419:0.2705:0.096:0.2916	.	.	.	.	T	162	.	.	I	-	2	0	ATP11C	138692503	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.269000	0.33074	0.729000	0.32403	0.481000	0.45027	ATT		0.353	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		G	138864837	A	G	138864837	2	3	149	1	0	0	0	0	0	0	0	1	1121	98	4	4		4	ATP11C	23	138864837	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	221823	138864837	16405723	74	10230											
DMBX1	127343	broad.mit.edu	37	chr1	46972778	46972778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcagcccagcaggcccaGcatgcccccgactaccggcc	8	2	11	20	2	0	0	0	0	0	0	0	1	0	0	6	3	5	3	6	3	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:46972778G>A	ENST00000360032.3	+	1	110	c.96G>A	c.(94-96)caG>caA	p.Q32Q	DMBX1_ENST00000371956.4_Silent_p.Q32Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGGCCCAGCATGCCCCCG	0.642																																						uc001cpx.3																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(94-96)caG>caA		Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.							70	58	62					1																	46972778		2203	4300	6503	SO:0001819	synonymous_variant	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46972778G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.96G>A	1.37:g.46972778G>A						DMBX1_uc001cpw.3_Silent_p.Q32Q	p.Q32Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			0	111	+	Acute lymphoblastic leukemia(166;0.155)		32			Interacts with OXT2 and is required for repressor activity (By similarity).			Silent	SNP	ENST00000360032.3	37	c.96G>A	CCDS536.1																																																																																				0.642	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			A	46972778	G	A	46972778	2	1	150	1	0	0	0	0	0	0	0	1	4578	962	34	3		3	DMBX1	1	46972778	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		46972778	202277843	1	10231											
ZCCHC11	23318	broad.mit.edu	37	chr1	52981638	52981638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcctctgctcaggtgtCaatgcagattcatctatcac	9	11	7	14	0	6	1	4	0	2	1	6	1	6	1	2	1	3	2	2	1	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:52981638C>G	ENST00000371544.3	-	3	1069	c.807G>C	c.(805-807)ttG>ttC	p.L269F	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.L269F|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L269F|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	269					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTCAGGTGTCAATGCAGATT	0.343																																						uc001cty.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(805-807)ttG>ttC		Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.							135	124	128					1																	52981638		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52981638C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.807G>C	1.37:g.52981638C>G	ENSP00000360599:p.Leu269Phe					ZCCHC11_uc001ctx.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.3_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.L269F	p.L269F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN			2	1060	-			269					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.807G>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747763	0.69533	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	T;T;T;T;D	0.83250	1.12;1.12;1.12;1.12;-1.7	5.26	5.26	0.73747	.	0.511408	0.19267	N	0.118514	D	0.89347	0.6689	M	0.75264	2.295	0.38390	D	0.94537	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.942;0.996;0.997;0.999;0.997	D	0.89453	0.3731	10	0.48119	T	0.1	.	9.5668	0.39402	0.0:0.8446:0.0:0.1554	.	28;269;269;269;269	E9PKX1;E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;.;TUT4_HUMAN	F	269;269;269;28;269	ENSP00000257177:L269F;ENSP00000360599:L269F;ENSP00000433486:L269F;ENSP00000435256:L28F;ENSP00000348063:L269F	ENSP00000257177:L269F	L	-	3	2	ZCCHC11	52754226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.882000	0.28186	2.474000	0.83562	0.655000	0.94253	TTG		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		G	52981638	C	G	52981638	3	3	150	1	0	0	0	0	1	0	0	0	17577	825	29	5	4242	5	ZCCHC11	1	52981638	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	6008860	52981638	196268983	2	10232											
LRRC7	57554	broad.mit.edu	37	chr1	70477511	70477511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaatttgactgtagcTgtaatgaactggagtcacta	14	12	10	5	0	1	4	1	2	0	2	1	5	1	5	0	1	2	3	0	1	7	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:70477511T>C	ENST00000035383.5	+	10	952	c.922T>C	c.(922-924)Tgt>Cgt	p.C308R	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.C313R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	308						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTAGCTGTAATGAACT	0.328																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(922-924)Tgt>Cgt		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							50	50	50					1																	70477511		2201	4297	6498	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70477511T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.922T>C	1.37:g.70477511T>C	ENSP00000035383:p.Cys308Arg					LRRC7_uc009wbg.3_5'UTR	p.C308R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			9	952	+			308					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.922T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837780	0.50951	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.22945	2.05;1.93	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.02854	-0.475	0.80722	D	1	P	0.49961	0.93	P	0.51487	0.671	T	0.23261	-1.0193	10	0.12430	T	0.62	.	14.0602	0.64795	0.0:0.0:0.0:1.0	.	308	Q96NW7	LRRC7_HUMAN	R	313;308;131	ENSP00000309245:C313R;ENSP00000035383:C308R	ENSP00000035383:C308R	C	+	1	0	LRRC7	70250099	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.599000	0.82757	2.057000	0.61298	0.528000	0.53228	TGT		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70477511	T	C	70477511	3	2	150	1	0	0	0	0	1	0	0	0	9020	1580	55	4	960	4	LRRC7	1	70477511	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	17495873	70477511	178773110	3	10233											
FAM46C	54855	broad.mit.edu	37	chr1	118166577	118166577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccagccggccccttacGtcagtgatggcaacttcagc	9	8	9	15	2	2	1	2	1	0	0	2	1	2	1	4	2	5	1	4	2	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:118166577G>A	ENST00000369448.3	+	2	1334	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	363										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCCCCTTACGTCAGTGATGG	0.557			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																												uc021osq.1				Rec	yes		1	1p12	54855	"Mis, F, O"	"family with sequence similarity 46, member C"			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1087-1089)Gtc>Atc		Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.							107	88	94					1																	118166577		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166577G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.1087G>A	1.37:g.118166577G>A	ENSP00000358458:p.Val363Ile	Multiple Myeloma(3;1.13e-06)				FAM46C_uc001ehe.3_Missense_Mutation_p.V363I	p.V363I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	0	1087	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	363					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.1087G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651765	0.29336	.	.	ENSG00000183508	ENST00000369448	T	0.23950	1.88	5.7	4.78	0.61160	.	0.000000	0.64402	D	0.000009	T	0.17746	0.0426	L	0.38733	1.17	0.58432	D	0.999995	D	0.67145	0.996	P	0.51945	0.685	T	0.01504	-1.1338	10	0.18710	T	0.47	-20.2044	14.1964	0.65675	0.0732:0.0:0.9268:0.0	.	363	Q5VWP2	FA46C_HUMAN	I	363	ENSP00000358458:V363I	ENSP00000358458:V363I	V	+	1	0	FAM46C	117968100	1.000000	0.71417	0.948000	0.38648	0.284000	0.27059	5.418000	0.66429	2.686000	0.91538	0.655000	0.94253	GTC		0.557	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		A	118166577	G	A	118166577	3	1	150	1	0	0	0	0	1	0	0	0	5567	1145	40	1	1089	1	FAM46C	1	118166577	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	47689066	118166577	131084044	4	10234											
RGS4	5999	broad.mit.edu	37	chr1	163044147	163044147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagggaagagacaagcCggaacatgctagagcctaca	15	3	12	11	1	0	2	0	0	0	2	0	5	0	4	3	2	5	2	3	2	5	2	rs376893352	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:163044147C>T	ENST00000367909.6	+	5	755	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000421743.2_Missense_Mutation_p.R236W|RGS4_ENST00000367908.4_Missense_Mutation_p.P83L|RGS4_ENST00000367906.3_Missense_Mutation_p.R121W|RGS4_ENST00000527809.1_Missense_Mutation_p.R121W|RGS4_ENST00000491263.1_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	139	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAGACAAGCCGGAACATGCT	0.507													C|||	5	0.000998403	0	0	5008	,	,		19518	0.004		0	False		,,,				2504	0.001				Ovarian(76;1257 1738 3039 6086)	uc001gcl.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(706-708)Cgg>Tgg		Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.							204	209	207					1																	163044147		2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044147C>T	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.415C>T	1.37:g.163044147C>T	ENSP00000356885:p.Arg139Trp					RGS4_uc009wuy.3_Missense_Mutation_p.R139W|RGS4_uc009wuz.3_Missense_Mutation_p.P83L|RGS4_uc009wva.3_Missense_Mutation_p.R121W	p.R236W	NM_001102445	NP_001106851	P49798	RGS4_HUMAN			5	1035	+			139					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.706C>T	CCDS1243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.65|18.65	3.670153|3.670153	0.67814|0.67814	.|.	.|.	ENSG00000117152|ENSG00000117152	ENST00000367908|ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906;ENST00000528938	.|T;T;T;T;T	.|0.02015	.|4.5;4.5;4.5;4.5;4.5	4.81|4.81	3.89|3.89	0.44902|0.44902	.|Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	.|0.305437	.|0.34314	.|N	.|0.004074	T|T	0.01061|0.01061	0.0035|0.0035	.|.	.|.	.|.	.|.	.|.	.|.	B|P;D	0.25743|0.56968	0.133|0.606;0.978	B|B;B	0.16722|0.39935	0.016|0.111;0.314	T|T	0.54873|0.54873	-0.8228|-0.8228	6|8	0.62326|0.87932	D|D	0.03|0	.|.	10.1226|10.1226	0.42630|0.42630	0.3971:0.6029:0.0:0.0|0.3971:0.6029:0.0:0.0	.|.	83|139;236	B1APZ3|P49798;A7XA59	.|RGS4_HUMAN;.	L|W	83|236;139;121;121;121	.|ENSP00000397181:R236W;ENSP00000356885:R139W;ENSP00000433261:R121W;ENSP00000356882:R121W;ENSP00000432194:R121W	ENSP00000356884:P83L|ENSP00000356882:R121W	P|R	+|+	2|1	0|2	RGS4|RGS4	161310771|161310771	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	0.855000|0.855000	0.27805|0.27805	1.184000|1.184000	0.42957|0.42957	-0.274000|-0.274000	0.10170|0.10170	CCG|CGG		0.507	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		T	163044147	C	T	163044147	3	4	150	1	0	0	0	0	1	0	0	0	13307	652	23	2	728	2	RGS4	1	163044147	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	44877570	163044147	86206474	5	10235											
C1orf112	55732	broad.mit.edu	37	chr1	169811564	169811564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtccttcagaacacaGtactgtctgctttgcttgca	7	16	7	11	0	3	1	1	0	2	1	4	1	4	1	1	0	5	4	1	0	2	5	rs376679451		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:169811564G>A	ENST00000286031.6	+	18	2432	c.1732G>A	c.(1732-1734)Gta>Ata	p.V578I	C1orf112_ENST00000359326.4_Missense_Mutation_p.V578I|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	578										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGAACACAGTACTGTCTGC	0.403																																						uc001ggq.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1732-1734)Gta>Ata		Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.							155	147	150					1																	169811564		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169811564G>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1732G>A	1.37:g.169811564G>A	ENSP00000286031:p.Val578Ile					C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.V578I|C1orf112_uc009wvt.3_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.3_Missense_Mutation_p.V443I|C1orf112_uc010plv.2_Missense_Mutation_p.V520I	p.V578I	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			17	2432	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		578					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1732G>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771792	0.16051	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.41400	1.0;1.0	5.18	3.3	0.37823	.	1.227780	0.05293	N	0.521557	T	0.13372	0.0324	L	0.34521	1.04	0.22648	N	0.998896	B;B	0.17268	0.021;0.021	B;B	0.15484	0.013;0.013	T	0.26538	-1.0100	10	0.18710	T	0.47	0.4256	8.3751	0.32438	0.0845:0.1655:0.7499:0.0	.	520;578	B4DGF2;Q9NSG2	.;CA112_HUMAN	I	578	ENSP00000352276:V578I;ENSP00000286031:V578I	ENSP00000286031:V578I	V	+	1	0	C1orf112	168078188	0.233000	0.23772	0.122000	0.21767	0.693000	0.40251	3.591000	0.53986	0.676000	0.31285	0.655000	0.94253	GTA		0.403	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		A	169811564	G	A	169811564	3	1	150	1	0	0	0	0	1	0	0	0	1985	1029	36	3	1794	3	C1orf112	1	169811564	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	6767417	169811564	79439057	6	10236											
CEP350	9857	broad.mit.edu	37	chr1	180063490	180063490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaacaacaactggaaaaAatcagcttactgacagacag	20	6	6	9	0	2	2	2	1	0	1	2	3	2	3	0	1	5	1	0	1	8	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:180063490A>G	ENST00000367607.3	+	34	8668	c.8250A>G	c.(8248-8250)aaA>aaG	p.K2750K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2750					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTGGAAAAAATCAGCTTAC	0.358																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8248-8250)aaA>aaG		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							44	44	44					1																	180063490		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180063490A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8250A>G	1.37:g.180063490A>G						CEP350_uc009wxl.2_Silent_p.K2749K|CEP350_uc001gnv.3_Silent_p.K885K|CEP350_uc001gnw.1_Silent_p.K507K|CEP350_uc001gnx.1_Silent_p.K507K	p.K2750K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			33	8633	+			2750					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.8250A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	0.299	-0.975296	0.02215	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.36	-3.16	0.05217	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.37323	D	0.909657	.	.	.	.	.	.	T	0.40117	-0.9580	4	.	.	.	.	0.7215	0.00941	0.3809:0.2219:0.2371:0.1601	.	.	.	.	D	925	.	.	N	+	1	0	CEP350	178330113	0.880000	0.30214	0.095000	0.20976	0.636000	0.38137	0.057000	0.14279	-0.189000	0.10482	-0.438000	0.05819	AAT		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	180063490	A	G	180063490	2	3	150	1	0	0	0	0	0	0	0	1	3254	11	1	4		4	CEP350	1	180063490	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	10251926	180063490	69187131	7	10237											
CACNA1E	777	broad.mit.edu	37	chr1	181479699	181479699	+	Frame_Shift_Del	DEL	C	C	-																															tcttcctgaggatgacaagaCccccatgtcccgaagactgg																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:181479699delC	ENST00000367573.2	+	2	353	c.353delC	c.(352-354)accfs	p.T118fs	CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.T69fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.T118fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.T118fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.T69fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.T118fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	118					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGACAAGACCCCCATGTCC	0.527																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(352-354)accfs		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							126	127	126					1																	181479699		2090	4200	6290	SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181479699delC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.353delC	1.37:g.181479699delC	ENSP00000356545:p.Thr118fs					CACNA1E_uc001gow.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxr.3_Frame_Shift_Del_p.T25fs	p.T118fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			1	548	+			118					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.353delC	CCDS55664.1																																																																																				0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		-	181479699	C	-	181479699	7	5	150	1	0	1	0	1	0	0	0	0	2542	507	18	0	359	0	CACNA1E	1	181479699	Frame_Shift_Del	DEL	C	TCGA-16-1045-01B-01W-0611-08	1416209	181479699	67770922	8	10238											
TPR	7175	broad.mit.edu	37	chr1	186329081	186329081	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaattcttttgttctctagTttctccaaaagcaactgatc	10	18	4	9	0	3	1	0	1	3	0	6	1	3	1	1	0	2	3	1	0	5	7			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:186329081T>C	ENST00000367478.4	-	12	1535	c.1239A>G	c.(1237-1239)aaA>aaG	p.K413K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	413					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTCTCTAGTTTCTCCAAAA	0.363			T	NTRK1	papillary thyroid																																	uc001grv.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1237-1239)aaA>aaG		Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.							130	115	119					1																	186329081		1833	4081	5914	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329081T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1239A>G	1.37:g.186329081T>C						MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.K489K	p.K413K	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	11	1536	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	413					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1239A>G	CCDS41446.1																																																																																				0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186329081	T	C	186329081	2	2	150	1	0	0	0	0	0	0	0	1	16413	1722	60	4		4	TPR	1	186329081	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	4849382	186329081	62921540	9	10239											
PTPRC	5788	broad.mit.edu	37	chr1	198608459	198608459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctttctggacacagaaGtatttgtgacaggtaagtac	11	13	10	7	0	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	4	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:198608459G>T	ENST00000367376.2	+	2	226	c.55G>T	c.(55-57)Gta>Tta	p.V19L	PTPRC_ENST00000442510.2_Missense_Mutation_p.V21L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V21L|PTPRC_ENST00000413409.2_Missense_Mutation_p.V21L|PTPRC_ENST00000367364.1_Missense_Mutation_p.V21L|PTPRC_ENST00000598951.1_Missense_Mutation_p.V19L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V19L|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.V19L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	19					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGACACAGAAGTATTTGTGAC	0.338																																						uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(55-57)Gta>Tta		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.							121	113	116					1																	198608459		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198608459G>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.55G>T	1.37:g.198608459G>T	ENSP00000356346:p.Val19Leu					PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.3_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc021pgy.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	p.V19L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			1	235	+			19					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.55G>T		.	.	.	.	.	.	.	.	.	.	G	13.16	2.153442	0.38021	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564;ENST00000367364;ENST00000413409;ENST00000418674	T;T	0.03663	4.13;3.85	5.59	1.43	0.22495	Protein tyrosine phosphatase, receptor type, N terminal (1);	1.376060	0.05340	N	0.529950	T	0.08935	0.0221	L	0.48642	1.525	0.09310	N	1	P;P;P;P;P;P;P;B	0.48503	0.802;0.835;0.911;0.911;0.454;0.454;0.454;0.379	B;B;P;P;B;B;B;B	0.51516	0.273;0.394;0.548;0.672;0.176;0.176;0.176;0.228	T	0.40251	-0.9573	10	0.66056	D	0.02	.	8.9131	0.35565	0.33:0.0:0.67:0.0	.	21;21;21;19;21;19;19;19	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;B1ALS3;E9PC28;P08575;Q0VAE8	.;.;.;.;.;.;PTPRC_HUMAN;.	L	19;21;21;19;19;19;19;19;19;19;19;19;19	ENSP00000356346:V21L;ENSP00000193532:V19L	ENSP00000271610:V19L	V	+	1	0	PTPRC	196875082	0.002000	0.14202	0.000000	0.03702	0.381000	0.30169	0.715000	0.25822	0.340000	0.23745	-0.345000	0.07892	GTA		0.338	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198608459	G	T	198608459	3	4	150	1	0	0	0	0	1	0	0	0	12797	1029	36	5	57	5	PTPRC	1	198608459	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	12279378	198608459	50642162	10	10240											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220325030	220325030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgggtgtggagaagcGcatgagccagcctttgcccc	6	10	14	11	1	1	2	0	1	1	1	1	3	1	2	4	2	4	1	4	2	1	2	rs202192080		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:220325030G>A	ENST00000358951.2	-	34	4060	c.3944C>T	c.(3943-3945)gCg>gTg	p.A1315V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1315					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGGAGAAGCGCATGAGCCAG	0.507													G|||	1	0.000199681	0	0	5008	,	,		16991	0		0.001	False		,,,				2504	0					uc010puk.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3943-3945)gCg>gTg		Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.		G	VAL/ALA	0,4406		0,0,2203	131	123	126		3944	4.9	0	1		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAB3GAP2	NM_012414.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1315/1394	220325030	1,13005	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220325030G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3944C>T	1.37:g.220325030G>A	ENSP00000351832:p.Ala1315Val					RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A1315V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V	p.A1315V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	33	4108	-			1315					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3944C>T	CCDS31028.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.28	1.889182	0.33348	0.0	1.16E-4	ENSG00000118873	ENST00000358951	T	0.30714	1.52	5.83	4.92	0.64577	.	0.287715	0.38720	N	0.001594	T	0.20170	0.0485	L	0.29908	0.895	0.38136	D	0.938293	D;D	0.55385	0.971;0.971	B;B	0.38020	0.263;0.263	T	0.07751	-1.0756	10	0.16896	T	0.51	.	14.6812	0.69017	0.0691:0.0:0.9309:0.0	.	1315;1315	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1315	ENSP00000351832:A1315V	ENSP00000351832:A1315V	A	-	2	0	RAB3GAP2	218391653	0.998000	0.40836	0.017000	0.16124	0.369000	0.29798	5.791000	0.69045	1.471000	0.48121	0.650000	0.86243	GCG		0.507	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		A	220325030	G	A	220325030	3	1	150	1	0	0	0	0	1	0	0	0	12936	1087	38	1	245	1	RAB3GAP2	1	220325030	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	21716571	220325030	28925591	11	10241											
ZP4	57829	broad.mit.edu	37	chr1	238053168	238053168	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagcttccagcctttaccTagaagatccataggacactt	12	10	8	11	0	0	3	0	0	0	3	2	5	2	4	4	1	3	1	4	1	4	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:238053168T>A	ENST00000366570.4	-	3	557	c.399A>T	c.(397-399)ctA>ctT	p.L133L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	133					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCCTTTACCTAGAAGATCCA	0.547																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.e3+1		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							209	213	211					1																	238053168		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053168T>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.400+1A>T	1.37:g.238053168T>A						LOC100130331_uc010pyc.2_Intron	p.A134_splice	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	687	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	134					B2RAE1	Silent	SNP	ENST00000366570.4	37	c.400_splice	CCDS1615.1																																																																																				0.547	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Silent	A	238053168	T	A	238053168	5	1	150	1	0	0	0	0	0	0	1	0	18215	1536	53	5	1263	5	ZP4	1	238053168	Splice_Site	SNP	T	TCGA-16-1045-01B-01W-0611-08	17728138	238053168	11197453	12	10242											
LOXL3	84695	broad.mit.edu	37	chr2	74761513	74761513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccttggtgccatttggGgtgaggatatcatagtgagt	8	12	14	7	0	1	2	1	2	0	0	1	3	1	3	3	4	1	0	3	4	2	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:74761513G>A	ENST00000264094.3	-	11	1940	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	LOXL3_ENST00000409986.1_Silent_p.T478T|LOXL3_ENST00000393937.2_Silent_p.T478T|LOXL3_ENST00000409549.1_Silent_p.T567T|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	623	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCCATTTGGGGTGAGGATAT	0.527																																						uc002smp.1																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1867-1869)acC>acT		Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.							213	204	207					2																	74761513		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74761513G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1869C>T	2.37:g.74761513G>A						LOXL3_uc002smo.1_Silent_p.T262T|LOXL3_uc010ffm.1_Silent_p.T567T|LOXL3_uc002smq.1_Silent_p.T478T|LOXL3_uc010ffn.1_Silent_p.T478T	p.T623T	NM_032603	NP_115992	P58215	LOXL3_HUMAN			10	1941	-			623			Lysyl-oxidase like.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1869C>T	CCDS1953.1																																																																																				0.527	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		A	74761513	G	A	74761513	2	1	150	1	0	0	0	0	0	0	0	1	8901	1219	43	3		3	LOXL3	2	74761513	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		74761513	168437860	13	10243											
CTNNA2	1496	broad.mit.edu	37	chr2	80801323	80801323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaagtagaggttgccAttgaagccctgagtgccaac	12	8	11	10	0	0	4	0	3	0	1	0	4	0	4	3	1	5	2	3	1	5	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:80801323A>T	ENST00000402739.4	+	12	1782	c.1777A>T	c.(1777-1779)Att>Ttt	p.I593F	CTNNA2_ENST00000540488.1_Missense_Mutation_p.I593F|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I272F|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I593F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I627F|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I593F|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I593F|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	593					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGGTTGCCATTGAAGCCCT	0.483																																						uc010ysh.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1777-1779)Att>Ttt		Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.							184	175	178					2																	80801323		2088	4243	6331	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801323A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1777A>T	2.37:g.80801323A>T	ENSP00000384638:p.Ile593Phe					CTNNA2_uc010yse.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysf.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysg.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysi.2_Missense_Mutation_p.I225F	p.I593F	NM_004389	NP_004380	P26232	CTNA2_HUMAN			11	1782	+			593					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1777A>T		.	.	.	.	.	.	.	.	.	.	A	21.4	4.138350	0.77775	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.57536	1.79	0.58432	D	0.999997	B;P;P;P	0.49447	0.284;0.924;0.907;0.907	B;P;P;P	0.57468	0.166;0.821;0.568;0.568	T	0.33033	-0.9884	9	.	.	.	.	16.2742	0.82636	1.0:0.0:0.0:0.0	.	225;593;593;593	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	F	593;593;627;593;593;593;272	ENSP00000418191:I593F;ENSP00000419295:I593F;ENSP00000355398:I627F;ENSP00000384638:I593F;ENSP00000444675:I593F;ENSP00000441705:I593F;ENSP00000341500:I272F	.	I	+	1	0	CTNNA2	80654834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.362000	0.44169	2.253000	0.74438	0.533000	0.62120	ATT		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	80801323	A	T	80801323	3	4	150	1	0	0	0	0	1	0	0	0	4013	217	8	5	1615	5	CTNNA2	2	80801323	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	6039810	80801323	162398050	14	10244											
POTEF	728378	broad.mit.edu	37	chr2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccacttgcccatcttGttcctgagtgtcttcatagc	7	13	7	14	0	3	1	1	1	2	0	4	1	4	1	3	0	3	2	3	0	1	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:130877801G>T	ENST00000409914.2	-	3	687	c.288C>A	c.(286-288)aaC>aaA	p.N96K	POTEF_ENST00000360967.5_Missense_Mutation_p.N96K|POTEF_ENST00000361163.4_Missense_Mutation_p.N96K|POTEF_ENST00000357462.5_Missense_Mutation_p.N96K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N96N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612																																						uc010fmh.2																			2	Substitution - coding silent(2)	p.N96N(3)	lung(2)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(286-288)aaC>aaA		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							104	128	120					2																	130877801		2203	4296	6499	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877801G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.288C>A	2.37:g.130877801G>T	ENSP00000386786:p.Asn96Lys						p.N96K	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	688	-			96					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.288C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	5.116	0.206951	0.09704	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76578	-1.03;-1.03;1.8;1.8	0.562	-1.12	0.09808	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.41378	-0.9512	8	0.72032	D	0.01	.	.	.	.	.	96	A5A3E0	POTEF_HUMAN	K	96	ENSP00000350052:N96K;ENSP00000386786:N96K;ENSP00000354232:N96K;ENSP00000355012:N96K	ENSP00000350052:N96K	N	-	3	2	POTEF	130594271	0.003000	0.15002	0.085000	0.20634	0.092000	0.18411	-0.155000	0.10115	-0.407000	0.07576	0.074000	0.15403	AAC		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130877801	G	T	130877801	3	4	150	1	0	0	0	0	1	0	0	0	12265	1368	48	5	2999	5	POTEF	2	130877801	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	50076478	130877801	112321572	15	10245											
POTEE	445582	broad.mit.edu	37	chr2	131976263	131976263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaagacactcaggaaCaagatggggaagtggtgctg	13	7	15	6	0	1	3	1	1	0	2	1	5	1	5	0	4	2	2	0	4	5	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:131976263C>A	ENST00000356920.5	+	1	382	c.288C>A	c.(286-288)aaC>aaA	p.N96K	POTEE_ENST00000358087.5_Missense_Mutation_p.N96K|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	96					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CACTCAGGAACAAGATGGGGA	0.617																																						uc002tsn.2																			0											c.(286-288)aaC>aaA		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							52	47	49					2																	131976263		2187	4263	6450	SO:0001583	missense	445582						ATP binding	g.chr2:131976263C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.288C>A	2.37:g.131976263C>A	ENSP00000439189:p.Asn96Lys					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.N96K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	340	+			96					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.288C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	5.438	0.265955	0.10294	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.76448	-1.02;1.69	0.561	-1.12	0.09808	.	.	.	.	.	T	0.53802	0.1819	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.41378	-0.9512	8	0.72032	D	0.01	.	.	.	.	.	96	Q6S8J3	POTEE_HUMAN	K	96	ENSP00000439189:N96K;ENSP00000443049:N96K	ENSP00000439189:N96K	N	+	3	2	AC131180.1	131692733	0.625000	0.27111	0.046000	0.18839	0.058000	0.15608	-0.067000	0.11579	-0.409000	0.07553	0.064000	0.15345	AAC		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	131976263	C	A	131976263	3	1	150	1	0	0	0	0	1	0	0	0	12264	477	17	5	290	5	POTEE	2	131976263	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1098462	131976263	111223110	16	10246											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135893152	135893155	+	Frame_Shift_Del	DEL	GAAA	GAAA	-																															agatgttaaattgttgtattGaaagaaagaaggcacgtgat																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:135893152_135893155delGAAA	ENST00000264158.8	+	17	1616_1619	c.1573_1576delGAAA	c.(1573-1578)gaaagafs	p.ER525fs	ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Frame_Shift_Del_p.ER481fs|RAB3GAP1_ENST00000442034.1_Frame_Shift_Del_p.ER525fs|SNORA40_ENST00000385573.1_RNA	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	525					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTTGTATTGAAAGAAAGAAGGC	0.333																																						uc010fnf.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1573-1578)gaaagafs		Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893152_135893155delGAAA	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1573_1576delGAAA	2.37:g.135893156_135893159delGAAA	ENSP00000264158:p.Glu525fs					RAB3GAP1_uc002tuj.3_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.3_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	p.E525fs	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	16	1616_1619	+			525					A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Del	DEL	ENST00000264158.8	37	c.1573_1576delGAAA	CCDS33294.1																																																																																				0.333	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		-	135893155	GAAA	-	135893152	7	5	150	1	0	1	0	1	0	0	0	0	12935	1291	45	0	1639	0	RAB3GAP1	2	135893152	Frame_Shift_Del	DEL	GAAA	TCGA-16-1045-01B-01W-0611-08	3916889	135893152	107306221	17	10247											
TTN	7273	broad.mit.edu	37	chr2	179500424	179500424	+	Frame_Shift_Del	DEL	A	A	-																															ggtctcgtataggtttcaccAgccaatctctaatgacttct																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:179500424delA	ENST00000591111.1	-	177	36928	c.36704delT	c.(36703-36705)ctgfs	p.L12235fs	TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.L4936fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.L5003fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.L4811fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.L13876fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.L11308fs			Q8WZ42	TITIN_HUMAN	titin	12235	Ig-like 82.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTTTCACCAGCCAATCTCT	0.353																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33922-33924)ctgfs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							35	32	33					2																	179500424		1816	4080	5896	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500424delA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36704delT	2.37:g.179500424delA	ENSP00000465570:p.Leu12235fs					MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L5003fs|TTN_uc021vta.1_Frame_Shift_Del_p.L4936fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L4811fs	p.L11308fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		175	34148	-			12235			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.33923delT																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179500424	A	-	179500424	7	5	150	1	0	1	0	1	0	0	0	0	16732	188	7	0	66610	0	TTN	2	179500424	Frame_Shift_Del	DEL	A	TCGA-16-1045-01B-01W-0611-08	43607272	179500424	63698949	18	10248											
KLF7	8609	broad.mit.edu	37	chr2	207988812	207988812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggctgagctcaggggacGatgggggcgttaatgaggtc	7	7	20	7	3	1	2	1	2	0	0	2	4	1	3	0	7	1	3	0	7	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:207988812G>A	ENST00000309446.6	-	2	795	c.419C>T	c.(418-420)tCg>tTg	p.S140L	KLF7_ENST00000421199.1_Missense_Mutation_p.S107L|KLF7_ENST00000423015.1_Missense_Mutation_p.S140L|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.S112L	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	140					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTCAGGGGACGATGGGGGCGT	0.597																																						uc002vbz.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(418-420)tCg>tTg		Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.							74	72	72					2																	207988812		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988812G>A	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.419C>T	2.37:g.207988812G>A	ENSP00000309570:p.Ser140Leu					KLF7_uc002vca.1_Missense_Mutation_p.S140L|KLF7_uc010zix.1_Missense_Mutation_p.S112L	p.S140L	NM_003709	NP_003700	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	1	741	-			140					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.419C>T	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823158	0.71143	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602	T;T;T	0.07327	3.21;3.2;3.2	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.949;0.995;0.926	T	0.00327	-1.1814	10	0.30854	T	0.27	.	19.7888	0.96450	0.0:0.0:1.0:0.0	.	112;140;140	B7Z4F7;Q96E51;O75840	.;.;KLF7_HUMAN	L	140;107;140;112;112	ENSP00000309570:S140L;ENSP00000387510:S107L;ENSP00000403284:S112L	ENSP00000309570:S140L	S	-	2	0	KLF7	207697057	1.000000	0.71417	0.812000	0.32479	0.989000	0.77384	9.362000	0.97126	2.697000	0.92050	0.491000	0.48974	TCG		0.597	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		A	207988812	G	A	207988812	3	1	150	1	0	0	0	0	1	0	0	0	8351	1059	37	2	501	2	KLF7	2	207988812	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	28488388	207988812	35210561	19	10249											
DOCK10	55619	broad.mit.edu	37	chr2	225666723	225666723	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagtttgtgatctgtgctGcttatggccttcatgactgg	7	16	11	7	0	2	2	1	2	1	0	2	2	2	2	1	2	2	3	1	2	3	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:225666723G>A	ENST00000258390.7	-	40	4370	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.Q1429*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1435					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTGTGCTGCTTATGGCCT	0.378																																						uc010fwz.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4303-4305)Cag>Tag		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							207	189	194					2																	225666723		1910	4132	6042	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225666723G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4303C>T	2.37:g.225666723G>A	ENSP00000258390:p.Gln1435*					DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	p.Q1435*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	39	4542	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1435					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.4303C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691707	0.96793	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.87	5.87	0.94306	.	0.271253	0.41938	D	0.000790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	20.2013	0.98260	0.0:0.0:1.0:0.0	.	.	.	.	X	1429;1435	.	ENSP00000258390:Q1435X	Q	-	1	0	DOCK10	225374967	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.583000	0.90794	2.763000	0.94921	0.655000	0.94253	CAG		0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225666723	G	A	225666723	4	1	150	1	0	0	0	0	0	1	0	0	4685	1328	46	3	2325	3	DOCK10	2	225666723	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	17677911	225666723	17532650	20	10250											
CAPN10	2859	broad.mit.edu	37	chr2	241556394	241556394	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaactctaccaacagcCacctgggggagctggaagtg	13	6	12	10	0	1	1	0	1	1	0	1	3	1	3	3	3	5	1	3	3	5	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:241556394C>T	ENST00000319838.5	+	4	490				CAPN10_ENST00000270364.7_Splice_Site_p.A133A|GPR35_ENST00000403859.1_Intron|GPR35_ENST00000438013.2_Intron	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		taccaacagccacctggggga	0.537																																						uc002vzq.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.e4-1		Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.							42	35	37					2																	241556394		2201	4299	6500	SO:0001627	intron_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241556394C>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.-452-113C>T	2.37:g.241556394C>T						GPR35_uc010fzi.2_Intron|GPR35_uc010fzh.2_Intron	p.A133_splice			Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	594	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	0			Calpain catalytic.		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	ENST00000319838.5	37	c.398_splice	CCDS2541.1																																																																																				0.537	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		T	241556394	C	T	241556394	1	4	150	0	1	0	0	0	0	0	0	0	2623	608	21	3		3	CAPN10	2	241556394	Intron	SNP	C	TCGA-16-1045-01B-01W-0611-08	15889671	241556394	1642979	21	10251											
IL5RA	3568	broad.mit.edu	37	chr3	3139898	3139898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagggaaacttggtaTgaccttaaacgtgaataatt	15	11	10	5	1	0	3	0	3	0	0	0	4	0	4	1	2	2	1	1	2	7	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:3139898T>C	ENST00000446632.2	-	6	1018	c.444A>G	c.(442-444)tcA>tcG	p.S148S	IL5RA_ENST00000311981.8_Silent_p.S148S|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Silent_p.S148S|IL5RA_ENST00000383846.1_Silent_p.S148S|IL5RA_ENST00000438560.1_Silent_p.S148S|IL5RA_ENST00000430514.2_Silent_p.S148S|IL5RA_ENST00000418488.2_Silent_p.S148S|IL5RA_ENST00000456302.1_Silent_p.S148S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	148					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAACTTGGTATGACCTTAAAC	0.413																																					GBM(169;430 2801 24955 28528)	uc011ask.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(442-444)tcA>tcG		Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.							216	222	220					3																	3139898		2203	4300	6503	SO:0001819	synonymous_variant	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139898T>C	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.444A>G	3.37:g.3139898T>C						IL5RA_uc010hbq.3_Silent_p.S148S|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.S148S|IL5RA_uc011asl.2_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	p.S148S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	6	1088	-			148					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	c.444A>G	CCDS2559.1																																																																																				0.413	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			C	3139898	T	C	3139898	2	2	150	1	0	0	0	0	0	0	0	1	7700	1451	51	4		4	IL5RA	3	3139898	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08		3139898	194882532	22	10252											
GADL1	339896	broad.mit.edu	37	chr3	30885739	30885739	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttgcttctccagttccTcaggtatcattttacctcta	8	16	5	12	0	4	1	2	0	2	1	6	1	5	1	3	1	2	3	3	1	3	7			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:30885739T>A	ENST00000282538.5	-	8	899	c.749A>T	c.(748-750)gAg>gTg	p.E250V	GADL1_ENST00000454381.3_Missense_Mutation_p.E250V	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	250					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CTCCAGTTCCTCAGGTATCAT	0.438																																						uc003cep.2																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(748-750)gAg>gTg		Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	Pyridoxal Phosphate(DB00114)						176	155	162					3																	30885739		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885739T>A	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.749A>T	3.37:g.30885739T>A	ENSP00000282538:p.Glu250Val					GADL1_uc003ceq.1_Missense_Mutation_p.E250V	p.E250V	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			7	796	-			250						Missense_Mutation	SNP	ENST00000282538.5	37	c.749A>T	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	T	12.89	2.072508	0.36566	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.45276	0.9;0.9	5.96	2.18	0.27775	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.339732	0.31531	N	0.007491	T	0.37705	0.1013	L	0.56124	1.755	0.41397	D	0.987653	B	0.06786	0.001	B	0.14578	0.011	T	0.17077	-1.0381	10	0.31617	T	0.26	-4.8429	13.7436	0.62862	0.0:0.0:0.3944:0.6056	.	250	Q6ZQY3	GADL1_HUMAN	V	250	ENSP00000282538:E250V;ENSP00000427059:E250V	ENSP00000282538:E250V	E	-	2	0	GADL1	30860743	0.980000	0.34600	0.971000	0.41717	0.990000	0.78478	1.634000	0.37123	0.127000	0.18452	0.533000	0.62120	GAG		0.438	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		A	30885739	T	A	30885739	3	1	150	1	0	0	0	0	1	0	0	0	6185	1551	54	5	848	5	GADL1	3	30885739	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	27745841	30885739	167136691	23	10253											
FLNB	2317	broad.mit.edu	37	chr3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggtttatatcGtctccaccaaattcgctgac	7	12	9	13	3	1	1	0	1	1	0	4	1	1	1	4	2	1	2	4	2	3	4	rs201831615		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:58135696G>A	ENST00000295956.4	+	37	6376	c.6211G>A	c.(6211-6213)Gtc>Atc	p.V2071I	FLNB_ENST00000429972.2_Missense_Mutation_p.V2060I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1891I|FLNB_ENST00000490882.1_Missense_Mutation_p.V2102I|FLNB_ENST00000357272.4_Missense_Mutation_p.V2071I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1878I|FLNB_ENST00000358537.3_Missense_Mutation_p.V2047I|FLNB_ENST00000348383.5_Missense_Mutation_p.V2071I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2071	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		20496	0		0	False		,,,				2504	0					uc003djj.2																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6211-6213)Gtc>Atc		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	238	209	219		6304,6178,6139,6211	6.2	1	3		219	0,8600		0,0,4300	no	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	2102/2634,2060/2592,2047/2579,2071/2603	58135696	1,13005	2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58135696G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6211G>A	3.37:g.58135696G>A	ENSP00000295956:p.Val2071Ile					FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_Non-coding_Transcript	p.V2071I	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	36	6376	+			2071			Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6211G>A	CCDS2885.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.86|11.86	1.763686|1.763686	0.31228|0.31228	2.27E-4|2.27E-4	0.0|0.0	ENSG00000136068|ENSG00000136068	ENST00000466455|ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.|D;D;D;D;D;D;D;D	.|0.92048	.|-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89986|0.89986	0.6874|0.6874	N|N	0.04203|0.04203	-0.255|-0.255	0.80722|0.80722	D|D	1|1	.|D;B;D;B;D;D	.|0.89917	.|0.961;0.041;1.0;0.051;1.0;1.0	.|P;B;D;B;D;D	.|0.85130	.|0.66;0.071;0.997;0.022;0.997;0.997	D|D	0.83766|0.83766	0.0217|0.0217	5|10	.|0.02654	.|T	.|1	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2047;2102;1878;1891;2060;2071	.|O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.|.;.;.;.;.;FLNB_HUMAN	H|I	35|2071;2102;2047;2060;2071;2071;1878;1891	.|ENSP00000295956:V2071I;ENSP00000420213:V2102I;ENSP00000351339:V2047I;ENSP00000415599:V2060I;ENSP00000232447:V2071I;ENSP00000349819:V2071I;ENSP00000418510:V1878I;ENSP00000414532:V1891I	.|ENSP00000295956:V2071I	R|V	+|+	2|1	0|0	FLNB|FLNB	58110736|58110736	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.733000|0.733000	0.41908|0.41908	4.390000|4.390000	0.59646|0.59646	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.562	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58135696	G	A	58135696	3	1	150	1	0	0	0	0	1	0	0	0	5934	1145	40	1	6454	1	FLNB	3	58135696	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	27249957	58135696	139886734	24	10254											
PHLDB2	90102	broad.mit.edu	37	chr3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actactcagtgacctcacccGgactcctccaccaccatcct	9	8	4	20	1	2	1	2	1	0	0	5	2	5	2	7	1	1	0	7	1	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:111632476G>A	ENST00000431670.2	+	3	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_ENST00000495180.1_Missense_Mutation_p.R135Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R576Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R549Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R549Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	549						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1645-1647)cGg>cAg		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							158	169	165					3																	111632476		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632476G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1646G>A	3.37:g.111632476G>A	ENSP00000405405:p.Arg549Gln					PHLDB2_uc003dyc.3_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.4_Missense_Mutation_p.R549Q	p.R549Q	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			2	2057	+			549					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1646G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586834	0.28268	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.29655	1.57;1.57;1.57;1.57;1.57;1.57;1.56	5.48	3.43	0.39272	.	0.414332	0.28104	N	0.016594	T	0.11836	0.0288	N	0.22421	0.69	0.24431	N	0.994571	B;B;P;B;B	0.42871	0.005;0.217;0.792;0.104;0.335	B;B;B;B;B	0.28709	0.001;0.011;0.093;0.024;0.024	T	0.15378	-1.0439	10	0.13108	T	0.6	.	4.4282	0.11515	0.205:0.2129:0.582:0.0	.	135;549;549;549;576	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	Q	576;576;549;549;549;549;549;549;135	ENSP00000377500:R576Q;ENSP00000405405:R549Q;ENSP00000405292:R549Q;ENSP00000418296:R549Q;ENSP00000377502:R549Q;ENSP00000418319:R549Q;ENSP00000420303:R135Q	ENSP00000352764:R576Q	R	+	2	0	PHLDB2	113115166	0.951000	0.32395	0.989000	0.46669	0.152000	0.21847	1.950000	0.40323	0.641000	0.30601	0.555000	0.69702	CGG		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		A	111632476	G	A	111632476	3	1	150	1	0	0	0	0	1	0	0	0	11852	1116	39	2	1737	2	PHLDB2	3	111632476	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	53496780	111632476	86389954	25	10255											
PCCB	5096	broad.mit.edu	37	chr3	135980854	135980854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaatgactctgggggaGcacggatccaagaaggagtg	11	6	17	7	1	1	3	0	2	1	1	2	6	2	6	1	5	1	2	1	5	3	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:135980854G>A	ENST00000251654.4	+	5	560	c.490G>A	c.(490-492)Gca>Aca	p.A164T	PCCB_ENST00000468777.1_Missense_Mutation_p.A195T|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000478469.1_Missense_Mutation_p.A164T|PCCB_ENST00000482086.1_Missense_Mutation_p.A48T|PCCB_ENST00000466072.1_Missense_Mutation_p.A164T|PCCB_ENST00000471595.1_Missense_Mutation_p.A164T|PCCB_ENST00000490504.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.A184T|PCCB_ENST00000462637.1_Missense_Mutation_p.A141T|PCCB_ENST00000483687.1_Missense_Mutation_p.A145T	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	164	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CTCTGGGGGAGCACGGATCCA	0.458																																						uc011bmc.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(550-552)Gca>Aca		Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Biotin(DB00121)|L-Valine(DB00161)						42	42	42					3																	135980854		2198	4290	6488	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:135980854G>A		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.490G>A	3.37:g.135980854G>A	ENSP00000251654:p.Ala164Thr					PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc003eqy.2_Missense_Mutation_p.A164T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	p.A184T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN			5	601	+			164			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.550G>A	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	36	5.800916	0.96960	.	.	ENSG00000114054	ENST00000251654;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469;ENST00000494742;ENST00000459873	D;D;D;D;D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-4.67;-5.23;-5.23;-5.23;-5.23;-5.23;-4.67;-4.67	5.91	5.91	0.95273	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.99507	4.6	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.74348	0.978;0.979;0.983;0.976	D	0.97599	1.0122	10	0.87932	D	0	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	81;184;164;164	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	T	164;145;195;141;164;48;164;184;164;81;81	ENSP00000251654:A164T;ENSP00000420639:A145T;ENSP00000419129:A195T;ENSP00000420391:A141T;ENSP00000420158:A164T;ENSP00000417253:A48T;ENSP00000417549:A164T;ENSP00000419027:A184T;ENSP00000420759:A164T;ENSP00000418020:A81T;ENSP00000419293:A81T	ENSP00000251654:A164T	A	+	1	0	PCCB	137463544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.839000	0.92120	2.793000	0.96121	0.655000	0.94253	GCA		0.458	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			A	135980854	G	A	135980854	3	1	150	1	0	0	0	0	1	0	0	0	11505	971	34	3	572	3	PCCB	3	135980854	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	24348378	135980854	62041576	26	10256											
MECOM	2122	broad.mit.edu	37	chr3	168845829	168845829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctggtcacagtcttcGcagcgatattgccgttcttc	8	12	10	11	3	3	1	1	0	2	1	5	2	3	1	1	1	3	3	1	1	2	5	rs188482846	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:168845829G>A	ENST00000464456.1	-	4	1269	c.69C>T	c.(67-69)tgC>tgT	p.C23C	MECOM_ENST00000433243.2_Silent_p.C23C|MECOM_ENST00000468789.1_Silent_p.C23C|MECOM_ENST00000264674.3_Silent_p.C87C|MECOM_ENST00000460814.1_Silent_p.C23C|MECOM_ENST00000392736.3_Silent_p.C23C|MECOM_ENST00000472280.1_Silent_p.C23C|MECOM_ENST00000494292.1_Silent_p.C211C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTCTTCGCAGCGATATT	0.433													A|||	2	0.000399361	0	0	5008	,	,		19636	0.002		0	False		,,,				2504	0					uc011bpj.1																			1	Substitution - Nonsense(1)	p.C23*(1)	urinary_tract(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(631-633)tgC>tgT		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							118	114	115					3																	168845829		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168845829G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.69C>T	3.37:g.168845829G>A						MECOM_uc010hwk.1_Silent_p.C46C|MECOM_uc003ffj.3_Silent_p.C87C|MECOM_uc003ffi.3_Silent_p.C23C|MECOM_uc011bpi.1_Silent_p.C23C|MECOM_uc003ffn.3_Silent_p.C23C|MECOM_uc003ffk.2_Silent_p.C23C|MECOM_uc003ffl.2_Silent_p.C183C|MECOM_uc011bpk.1_Silent_p.C23C|MECOM_uc010hwn.2_Silent_p.C211C|MECOM_uc003ffm.1_Silent_p.C87C	p.C211C	NM_004991	NP_004982	Q13465	MDS1_HUMAN			4	1036	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.633C>T	CCDS54669.1																																																																																				0.433	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		A	168845829	G	A	168845829	2	1	150	1	0	0	0	0	0	0	0	1	9422	1079	38	1		1	MECOM	3	168845829	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	32864975	168845829	29176601	27	10257											
MUC4	4585	broad.mit.edu	37	chr3	195498599	195498599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagggccacagggtccCggcctgtgaagcctgttggg	6	6	15	14	1	0	1	0	1	0	0	1	1	1	1	6	4	1	1	6	4	1	1	rs145772547		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:195498599C>T	ENST00000346145.4	-	4	497	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	MUC4_ENST00000463781.3_Missense_Mutation_p.R4389Q|MUC4_ENST00000475231.1_Missense_Mutation_p.R4389Q|MUC4_ENST00000349607.4_Missense_Mutation_p.R102Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1146					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGGGTCCCGGCCTGTGAA	0.562																																						uc021xjp.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(13165-13167)cGg>cAg		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							97	95	96					3																	195498599		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195498599C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.458G>A	3.37:g.195498599C>T	ENSP00000304207:p.Arg153Gln					MUC4_uc003fuz.3_Missense_Mutation_p.G69R|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.R130Q|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.R130Q|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.R153Q|MUC4_uc003fvp.3_Missense_Mutation_p.R102Q	p.R4389Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	4	13322	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1146					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13166G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.08	1.829568	0.32329	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38077	1.16;1.52;1.48;1.45	5.5	-0.173	0.13322	.	2.293390	0.01446	N	0.015300	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27765	0.147;0.188;0.038;0.038	B;B;B;B	0.15870	0.014;0.006;0.007;0.007	T	0.13495	-1.0507	10	0.07813	T	0.8	2.74	5.9478	0.19229	0.1295:0.495:0.0:0.3755	.	4261;1146;102;153	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	Q	102;153;4389;4389;1115	ENSP00000338109:R102Q;ENSP00000304207:R153Q;ENSP00000417498:R4389Q;ENSP00000420243:R4389Q	ENSP00000304207:R153Q	R	-	2	0	MUC4	196984233	0.000000	0.05858	0.053000	0.19242	0.099000	0.18886	-1.634000	0.02020	0.036000	0.15547	-0.257000	0.10917	CGG		0.562	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195498599	C	T	195498599	3	4	150	1	0	0	0	0	1	0	0	0	9978	652	23	2	3156	2	MUC4	3	195498599	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	26652770	195498599	2523831	28	10258											
SLC10A4	201780	broad.mit.edu	37	chr4	48486116	48486116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctgctgtcccggcGgcaatctctccaatcttatg	5	13	11	12	2	2	0	0	0	2	0	5	0	4	0	2	3	1	3	2	3	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:48486116G>A	ENST00000273861.4	+	1	757	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGTCCCGGCGGCAATCTCTC	0.632																																						uc003gyc.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(538-540)Ggc>Agc		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.							36	33	34					4																	48486116		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48486116G>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.538G>A	4.37:g.48486116G>A	ENSP00000273861:p.Gly180Ser						p.G180S	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN			0	757	+			180					Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.538G>A	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039305	0.97226	.	.	ENSG00000145248	ENST00000273861	T	0.13196	2.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60905	-0.7170	10	0.87932	D	0	-23.7368	20.1133	0.97917	0.0:0.0:1.0:0.0	.	180	Q96EP9	NTCP4_HUMAN	S	180	ENSP00000273861:G180S	ENSP00000273861:G180S	G	+	1	0	SLC10A4	48180873	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	9.470000	0.97683	2.766000	0.95052	0.491000	0.48974	GGC		0.632	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		A	48486116	G	A	48486116	3	1	150	1	0	0	0	0	1	0	0	0	14376	1116	39	2	540	2	SLC10A4	4	48486116	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		48486116	142668160	29	10259											
YTHDC1	91746	broad.mit.edu	37	chr4	69184554	69184554	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgacttacctgtccacttCctggtatcgtggatccttta	6	14	7	14	2	0	0	0	0	0	0	4	2	3	1	5	2	1	1	5	2	3	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:69184554C>A	ENST00000344157.4	-	13	2046	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.E553*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.E571*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	571	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGTCCACTTCCTGGTATCGT	0.318																																						uc003hdx.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1711-1713)Gaa>Taa		Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.							76	79	78					4																	69184554		2203	4300	6503	SO:0001587	stop_gained	91746							g.chr4:69184554C>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1711G>T	4.37:g.69184554C>A	ENSP00000339245:p.Glu571*					YTHDC1_uc003hdy.3_Nonsense_Mutation_p.E553*	p.E571*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			12	2064	-			571			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	c.1711G>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	42	9.275125	0.99122	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.64	5.64	0.86602	.	0.206727	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	.	.	.	X	571;553	.	ENSP00000339245:E571X	E	-	1	0	YTHDC1	68867149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.394000	0.59671	2.662000	0.90505	0.655000	0.94253	GAA		0.318	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		A	69184554	C	A	69184554	4	1	150	1	0	0	0	0	0	1	0	0	17493	864	30	5	492	5	YTHDC1	4	69184554	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	20698438	69184554	121969722	30	10260											
SGMS2	166929	broad.mit.edu	37	chr4	108831540	108831540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacagactaatttcttatCtcgagcatggtggttcccca	9	14	7	11	1	3	1	1	0	2	1	5	2	4	1	2	2	1	2	2	2	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:108831540C>T	ENST00000394684.4	+	7	1486	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.S310F|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.S310F	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	310					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		AATTTCTTATCTCGAGCATGG	0.388																																						uc003hyo.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(928-930)tCt>tTt		Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	Choline(DB00122)						83	88	87					4																	108831540		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108831540C>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.929C>T	4.37:g.108831540C>T	ENSP00000378176:p.Ser310Phe					SGMS2_uc003hyl.4_Missense_Mutation_p.S310F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.S310F	p.S310F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	5	1568	+			310					A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.929C>T	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979517	0.92982	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.47869	0.83;0.83;0.83	6.07	6.07	0.98685	.	0.100570	0.64402	D	0.000003	T	0.32436	0.0829	N	0.19112	0.55	0.58432	D	0.999999	P	0.40476	0.718	B	0.33690	0.168	T	0.11941	-1.0567	10	0.10636	T	0.68	-10.4746	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310	Q8NHU3	SMS2_HUMAN	F	310	ENSP00000378176:S310F;ENSP00000351981:S310F;ENSP00000378178:S310F	ENSP00000351981:S310F	S	+	2	0	SGMS2	109050989	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.463000	0.80869	2.885000	0.99019	0.655000	0.94253	TCT		0.388	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		T	108831540	C	T	108831540	3	4	150	1	0	0	0	0	1	0	0	0	14215	913	32	3	947	3	SGMS2	4	108831540	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	39646986	108831540	82322736	31	10261											
TBC1D9	23158	broad.mit.edu	37	chr4	141545490	141545490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctggctttaggctcacCgtaacaaagccatcatctgc	9	12	8	12	1	4	0	2	0	2	0	4	0	4	0	2	2	3	3	2	2	3	4	rs190153862	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:141545490C>T	ENST00000442267.2	-	19	3026	c.2952G>A	c.(2950-2952)acG>acA	p.T984T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	984							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAGGCTCACCGTAACAAAGC	0.373													C|||	2	0.000399361	0	0.0014	5008	,	,		17919	0		0.001	False		,,,				2504	0					uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(2950-2952)acG>acA		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							97	91	93					4																	141545490		1901	4117	6018	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141545490C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2952G>A	4.37:g.141545490C>T							p.T984T	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			18	3224	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	984					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2952G>A	CCDS47136.1																																																																																				0.373	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		T	141545490	C	T	141545490	2	4	150	1	0	0	0	0	0	0	0	1	15624	639	23	2		2	TBC1D9	4	141545490	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	32713950	141545490	49608786	32	10262											
SLC6A18	348932	broad.mit.edu	37	chr5	1225635	1225635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccggccgcctgcgacctcGgggatgagaggcccaagtgg	7	4	16	14	4	0	1	0	1	0	1	1	4	0	2	5	5	1	0	5	5	1	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:1225635G>A	ENST00000324642.3	+	1	166	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G15R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	15					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCGACCTCGGGGATGAGAG	0.642																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(43-45)Ggg>Agg		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							75	66	69					5																	1225635		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1225635G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.43G>A	5.37:g.1225635G>A	ENSP00000323549:p.Gly15Arg						p.G15R	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		0	166	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		15						Missense_Mutation	SNP	ENST00000324642.3	37	c.43G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569555	0.28003	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74315	-0.83;-0.68	3.5	2.62	0.31277	.	0.941875	0.08812	N	0.890179	T	0.60625	0.2283	L	0.43152	1.355	0.09310	N	1	P	0.45348	0.856	B	0.36534	0.227	T	0.44436	-0.9328	10	0.16420	T	0.52	.	7.2482	0.26133	0.2371:0.0:0.7629:0.0	.	15	Q96N87	S6A18_HUMAN	R	15	ENSP00000323549:G15R;ENSP00000296821:G15R	ENSP00000296821:G15R	G	+	1	0	SLC6A18	1278635	0.942000	0.31987	0.004000	0.12327	0.059000	0.15707	2.463000	0.45058	0.797000	0.33971	0.313000	0.20887	GGG		0.642	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		A	1225635	G	A	1225635	3	1	150	1	0	0	0	0	1	0	0	0	14681	1116	39	2	45	2	SLC6A18	5	1225635	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		1225635	179689625	33	10263											
LHFPL2	10184	broad.mit.edu	37	chr5	77784877	77784877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagcccaaggagcagtctCcaggtttgtaggcagatgca	10	7	12	12	0	1	1	0	0	1	1	2	2	1	2	3	3	3	5	3	3	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:77784877C>T	ENST00000515007.2	-	3	840	c.530G>A	c.(529-531)gGa>gAa	p.G177E	LHFPL2_ENST00000380345.2_Missense_Mutation_p.G177E			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	177						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512																																						uc003kfo.3																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(529-531)gGa>gAa		Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.							103	103	103					5																	77784877		2203	4300	6503	SO:0001583	missense	10184					integral to membrane		g.chr5:77784877C>T	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.530G>A	5.37:g.77784877C>T	ENSP00000425906:p.Gly177Glu						p.G177E	NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	1206	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	177					B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	c.530G>A	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426157	0.83667	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.79141	-1.24;-1.24	5.94	5.94	0.96194	.	0.097705	0.64402	D	0.000001	D	0.88123	0.6352	M	0.85197	2.74	0.80722	D	1	D	0.58268	0.982	P	0.57620	0.824	D	0.89189	0.3549	10	0.87932	D	0	-10.8097	19.3618	0.94442	0.0:1.0:0.0:0.0	.	177	Q6ZUX7	LHPL2_HUMAN	E	177	ENSP00000369702:G177E;ENSP00000425906:G177E	ENSP00000369702:G177E	G	-	2	0	LHFPL2	77820633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.406000	0.44557	2.820000	0.97059	0.650000	0.86243	GGA		0.512	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		T	77784877	C	T	77784877	3	4	150	1	0	0	0	0	1	0	0	0	8765	855	30	3	160	3	LHFPL2	5	77784877	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	76559242	77784877	103130383	34	10264											
ARSK	153642	broad.mit.edu	37	chr5	94918696	94918696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatggttaatcttatcCgtaacaggactaaagtcaga	13	10	9	9	1	2	1	1	0	1	1	3	2	3	2	2	3	1	2	2	3	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:94918696C>T	ENST00000380009.4	+	4	698	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAATCTTATCCGTAACAGGAC	0.418																																						uc003kld.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(493-495)Cgt>Tgt		Homo sapiens arylsulfatase family, member K (ARSK), mRNA.							143	139	140					5																	94918696		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918696C>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.493C>T	5.37:g.94918696C>T	ENSP00000369346:p.Arg165Cys					ARSK_uc010jbg.3_Missense_Mutation_p.R6C|ARSK_uc011cum.2_Non-coding_Transcript	p.R165C	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	3	651	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	165					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.493C>T	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882937	0.51908	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98567	-5.0	6.02	5.13	0.70059	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.322034	0.35013	N	0.003518	D	0.95601	0.8570	N	0.19112	0.55	0.44523	D	0.997478	D	0.57571	0.98	P	0.48030	0.564	D	0.94546	0.7749	10	0.37606	T	0.19	-7.5499	11.2616	0.49087	0.1208:0.5118:0.3674:0.0	.	165	Q6UWY0	ARSK_HUMAN	C	165	ENSP00000369346:R165C	ENSP00000369346:R165C	R	+	1	0	ARSK	94944452	0.980000	0.34600	0.067000	0.19924	0.602000	0.36980	2.780000	0.47742	1.513000	0.48852	0.650000	0.86243	CGT		0.418	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		T	94918696	C	T	94918696	3	4	150	1	0	0	0	0	1	0	0	0	996	652	23	2	507	2	ARSK	5	94918696	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	17133819	94918696	85996564	35	10265											
PHF15	23338	broad.mit.edu	37	chr5	133902013	133902013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggaaaaggtgaccctgCgcaagcagcggctgcagcag	11	4	14	12	2	0	1	0	1	0	0	0	2	0	2	2	3	5	5	2	3	3	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:133902013C>T	ENST00000402835.1	+	9	1432	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	PHF15_ENST00000395003.1_Missense_Mutation_p.R393C|PHF15_ENST00000361895.2_Missense_Mutation_p.R393C|PHF15_ENST00000282605.4_Missense_Mutation_p.R393C																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGACCCTGCGCAAGCAGCG	0.642																																						uc003kzk.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1225-1227)Cgc>Tgc		Homo sapiens PHD finger protein 15 (PHF15), mRNA.							52	54	53					5																	133902013		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133902013C>T																												ENST00000402835.1:c.1177C>T	5.37:g.133902013C>T	ENSP00000384671:p.Arg393Cys					PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzo.1_Missense_Mutation_p.R393C|PHF15_uc003kzp.3_Missense_Mutation_p.R101C	p.R409C	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1263	+			393						Missense_Mutation	SNP	ENST00000402835.1	37	c.1225C>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816916	0.70912	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.53423	0.62;0.69;0.73;0.71	5.63	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;0.993;0.994;0.99;0.99	T	0.74503	-0.3644	10	0.87932	D	0	.	15.5504	0.76148	0.2224:0.7776:0.0:0.0	.	393;393;393;393;393;409	B4DFY8;Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.;.	C	393;409;393;393;393;393;393	ENSP00000282605:R393C;ENSP00000354425:R393C;ENSP00000384671:R393C;ENSP00000378451:R393C	ENSP00000282605:R393C	R	+	1	0	PHF15	133929912	0.792000	0.28813	0.980000	0.43619	0.960000	0.62799	0.549000	0.23329	2.657000	0.90304	0.591000	0.81541	CGC		0.642	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			T	133902013	C	T	133902013	3	4	150	1	0	0	0	0	1	0	0	0	11826	768	27	1	1207	1	PHF15	5	133902013	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	38983317	133902013	47013247	36	10266											
EBF1	1879	broad.mit.edu	37	chr5	158523369	158523369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattgctgtagagaagctGaagccggtagtgaattccgt	11	10	12	8	2	0	3	0	2	0	1	1	4	1	3	3	1	3	4	3	1	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:158523369G>T	ENST00000313708.6	-	3	619	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	EBF1_ENST00000380654.4_Missense_Mutation_p.Q113K|EBF1_ENST00000517373.1_Missense_Mutation_p.Q113K|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	113					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAGAAGCTGAAGCCGGTAG	0.592			T	HMGA2	lipoma																																	uc010jip.3				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(337-339)Cag>Aag		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							111	100	104					5																	158523369		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158523369G>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.337C>A	5.37:g.158523369G>T	ENSP00000322898:p.Gln113Lys					EBF1_uc011ddw.2_5'UTR|EBF1_uc011ddx.2_Missense_Mutation_p.Q113K|EBF1_uc003lxl.4_Missense_Mutation_p.Q113K	p.Q113K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	639	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	113					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.337C>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976478	0.92982	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.48201	0.82;0.84;0.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.80422	2.495	0.58432	D	0.999999	D;P;P	0.57899	0.981;0.797;0.553	P;B;B	0.54140	0.743;0.314;0.281	T	0.70513	-0.4851	10	0.62326	D	0.03	-4.3948	19.0692	0.93125	0.0:0.0:1.0:0.0	.	113;113;113	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	K	113	ENSP00000322898:Q113K;ENSP00000370029:Q113K;ENSP00000428020:Q113K	ENSP00000322898:Q113K	Q	-	1	0	EBF1	158455947	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.709000	0.98729	2.595000	0.87683	0.655000	0.94253	CAG		0.592	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		T	158523369	G	T	158523369	3	4	150	1	0	0	0	0	1	0	0	0	4880	1299	45	5	1494	5	EBF1	5	158523369	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	24621356	158523369	22391891	37	10267											
TDP2	51567	broad.mit.edu	37	chr6	24666809	24666809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaaggcgctctcctccaCcggaggctcgaagtaggagt	8	8	12	13	3	1	0	0	0	1	0	5	3	3	2	4	4	0	3	4	4	3	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:24666809C>T	ENST00000378198.4	-	2	366	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.V96M|ACOT13_ENST00000537591.1_5'Flank|TDP2_ENST00000341060.3_De_novo_Start_OutOfFrame			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	66					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTCTCCTCCACCGGAGGCTCG	0.582								Direct reversal of damage																														uc003nej.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(196-198)Gtg>Atg	Direct reversal of damage	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.							141	147	145					6																	24666809		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24666809C>T	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.196G>A	6.37:g.24666809C>T	ENSP00000367440:p.Val66Met					TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	p.V66M	NM_016614	NP_057698	O95551	TYDP2_HUMAN			1	221	-			66					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.196G>A	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786819	0.70337	.	.	ENSG00000111802	ENST00000378198;ENST00000545995	T;T	0.23348	1.95;1.91	4.84	4.84	0.62591	UBA-like (1);	0.371121	0.31797	N	0.007060	T	0.12263	0.0298	L	0.46157	1.445	0.27170	N	0.960945	B;B	0.19583	0.037;0.012	B;B	0.17098	0.017;0.005	T	0.03945	-1.0990	10	0.35671	T	0.21	-12.4624	15.4938	0.75632	0.0:1.0:0.0:0.0	.	96;66	O95551-2;O95551	.;TYDP2_HUMAN	M	66;96	ENSP00000367440:V66M;ENSP00000437637:V96M	ENSP00000367440:V66M	V	-	1	0	TDP2	24774788	0.001000	0.12720	0.294000	0.24946	0.792000	0.44763	0.898000	0.28404	2.493000	0.84123	0.655000	0.94253	GTG		0.582	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			T	24666809	C	T	24666809	3	4	150	1	0	0	0	0	1	0	0	0	15726	507	18	3	916	3	TDP2	6	24666809	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		24666809	146448258	38	10268											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839664	34839664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagcccccaaaagaacagGtgtttttggtgcccacagga	12	7	11	11	0	0	1	0	0	0	1	0	3	0	2	3	3	3	1	3	3	3	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:34839664G>A	ENST00000192788.5	+	20	4330	c.4159G>A	c.(4159-4161)Gtg>Atg	p.V1387M	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.V1387M	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1387							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAAAGAACAGGTGTTTTTGGT	0.468																																						uc003oju.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(4159-4161)Gtg>Atg		Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.							44	44	44					6																	34839664		1859	4092	5951	SO:0001583	missense	54887							g.chr6:34839664G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4159G>A	6.37:g.34839664G>A	ENSP00000192788:p.Val1387Met					UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	p.V1387M	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			19	4393	+			1387					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.4159G>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	3.482	-0.105634	0.06924	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.11063	2.97;2.81	5.96	-0.164	0.13359	.	0.799677	0.11932	N	0.515624	T	0.02230	0.0069	L	0.44542	1.39	0.09310	N	0.99999	B	0.10296	0.003	B	0.10450	0.005	T	0.45483	-0.9258	10	0.33940	T	0.23	-3.3575	1.6246	0.02720	0.2988:0.1296:0.438:0.1337	.	1387	Q6BDS2	URFB1_HUMAN	M	1387	ENSP00000192788:V1387M;ENSP00000400628:V1387M	ENSP00000192788:V1387M	V	+	1	0	UHRF1BP1	34947642	0.579000	0.26725	0.323000	0.25347	0.009000	0.06853	0.239000	0.18023	-0.105000	0.12132	-0.897000	0.02905	GTG		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		A	34839664	G	A	34839664	3	1	150	1	0	0	0	0	1	0	0	0	16965	1261	44	3	4237	3	UHRF1BP1	6	34839664	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	10172855	34839664	136275403	39	10269											
TREML4	285852	broad.mit.edu	37	chr6	41196175	41196175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgggctggaatggcctggGgtggggtccacacctgctgc	4	9	17	11	0	1	0	0	0	1	0	2	1	2	1	3	7	2	2	3	7	1	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:41196175G>A	ENST00000341495.2	+	1	114	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	TREML4_ENST00000448827.2_Missense_Mutation_p.G4S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	4						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGGCCTGGGGTGGGGTCCA	0.597																																						uc003oqc.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(10-12)Ggt>Agt		Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.							39	39	39					6																	41196175		2203	4300	6503	SO:0001583	missense	285852					extracellular region		g.chr6:41196175G>A	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.10G>A	6.37:g.41196175G>A	ENSP00000342570:p.Gly4Ser					TREML4_uc003oqd.3_5'Flank	p.G4S	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN			0	114	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		4					B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	c.10G>A	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	10.90	1.481014	0.26598	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.06528	3.29;3.29	3.94	1.12	0.20585	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.47799	-0.9089	9	0.62326	D	0.03	-1.505	5.6762	0.17749	0.3575:0.0:0.6425:0.0	.	4	Q6UXN2	TRML4_HUMAN	S	4	ENSP00000342570:G4S;ENSP00000418078:G4S	ENSP00000342570:G4S	G	+	1	0	TREML4	41304153	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.020000	0.13466	0.101000	0.17610	0.591000	0.81541	GGT		0.597	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			A	41196175	G	A	41196175	3	1	150	1	0	0	0	0	1	0	0	0	16471	1232	43	3	12	3	TREML4	6	41196175	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	6356511	41196175	129918892	40	10270											
FAM83B	222584	broad.mit.edu	37	chr6	54804576	54804576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacttgttgagtccttTgatgaagaatttagaactct	12	14	9	6	0	1	5	0	3	1	2	2	6	2	6	1	1	2	1	1	1	5	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:54804576T>G	ENST00000306858.7	+	5	923	c.807T>G	c.(805-807)ttT>ttG	p.F269L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	269										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGAGTCCTTTGATGAAGAAT	0.398																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(805-807)ttT>ttG		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							97	97	97					6																	54804576		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804576T>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.807T>G	6.37:g.54804576T>G	ENSP00000304078:p.Phe269Leu						p.F269L	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	923	+	Lung NSC(77;0.0178)|Renal(3;0.122)		269					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.807T>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.443287	0.63067	.	.	ENSG00000168143	ENST00000306858	T	0.19938	2.11	5.42	3.04	0.35103	.	0.162703	0.56097	N	0.000033	T	0.35682	0.0940	M	0.86343	2.81	0.47905	D	0.999542	D	0.71674	0.998	D	0.67725	0.953	T	0.37079	-0.9721	10	0.87932	D	0	-27.157	9.4996	0.39008	0.0:0.1437:0.0:0.8563	.	269	Q5T0W9	FA83B_HUMAN	L	269	ENSP00000304078:F269L	ENSP00000304078:F269L	F	+	3	2	FAM83B	54912535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.967000	0.40491	1.004000	0.39156	0.482000	0.46254	TTT		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54804576	T	G	54804576	3	3	150	1	0	0	0	0	1	0	0	0	5634	1809	63	5	821	5	FAM83B	6	54804576	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	13608401	54804576	116310491	41	10271											
ADAP1	11033	broad.mit.edu	37	chr7	959664	959664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgctcgtacttggccCggatccactgctctcgaagg	5	10	11	15	4	1	0	0	0	1	0	5	2	2	1	3	3	2	3	3	3	2	2	rs373846581		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:959664C>T	ENST00000265846.5	-	4	548	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q|ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	110	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R110Q(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													C|||	1	0.000199681	8e-04	0	5008	,	,		8018	0		0	False		,,,				2504	0					uc003sjo.4																			1	Substitution - Missense(1)	p.R110Q(2)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(328-330)cGg>cAg		Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.		C	GLN/ARG	0,4404		0,0,2202	38	35	36		329	4.5	1	7		36	1,8591	1.2+/-3.3	0,1,4295	no	missense	ADAP1	NM_006869.2	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	110/375	959664	1,12995	2202	4296	6498	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:959664C>T	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.329G>A	7.37:g.959664C>T	ENSP00000265846:p.Arg110Gln					ADAP1_uc011jvs.2_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R38Q	p.R110Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN			3	522	-			110			Arf-GAP.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.329G>A	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.084852|5.084852	0.94100|0.94100	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105963|ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823|ENST00000265846;ENST00000449296;ENST00000538188;ENST00000539900;ENST00000435943	.|T;T;T;T	.|0.47528	.|0.84;0.85;0.84;0.84	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.112189	.|0.56097	.|D	.|0.000024	T|T	0.68796|0.68796	0.3040|0.3040	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70716	.|0.969;0.97	T|T	0.74562|0.74562	-0.3624|-0.3624	5|10	.|0.87932	.|D	.|0	-33.1793|-33.1793	14.5163|14.5163	0.67821|0.67821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|15;110	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	R|Q	93;44;53|110;38;15;121;97	.|ENSP00000265846:R110Q;ENSP00000407267:R38Q;ENSP00000442682:R121Q;ENSP00000394973:R97Q	.|ENSP00000265846:R110Q	G|R	-|-	1|2	0|0	ADAP1|ADAP1	926190|926190	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.816000|0.816000	0.46133|0.46133	4.105000|4.105000	0.57797|0.57797	2.215000|2.215000	0.71742|0.71742	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.682	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		T	959664	C	T	959664	3	4	150	1	0	0	0	0	1	0	0	0	279	652	23	2	827	2	ADAP1	7	959664	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		959664	158178999	42	10272											
MAD1L1	8379	broad.mit.edu	37	chr7	2255803	2255803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctcaccgcaggtgcgcGctctcctcccgcagctgctt	4	8	9	20	4	2	0	1	0	1	0	4	0	3	0	5	1	3	5	5	1	0	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:2255803G>A	ENST00000406869.1	-	8	1355	c.798C>T	c.(796-798)agC>agT	p.S266S	MAD1L1_ENST00000265854.7_Silent_p.S266S|MAD1L1_ENST00000402746.1_Silent_p.S174S|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Silent_p.S266S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	266					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGTGCGCGCTCTCCTCCC	0.637																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(796-798)agC>agT		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.							48	54	52					7																	2255803		2026	4179	6205	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255803G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.798C>T	7.37:g.2255803G>A						MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.3_Silent_p.S266S	p.S266S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	7	1064	-		Ovarian(82;0.0272)	266					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.798C>T	CCDS43539.1																																																																																				0.637	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	2255803	G	A	2255803	2	1	150	1	0	0	0	0	0	0	0	1	9147	1078	38	1		1	MAD1L1	7	2255803	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	1296139	2255803	156882860	43	10273											
ELMO1	9844	broad.mit.edu	37	chr7	36917679	36917679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaagtctccgtaatgCaggactttgtgatttggcga	8	15	10	8	2	3	1	0	1	3	0	4	3	3	2	1	2	1	2	1	2	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:36917679C>T	ENST00000310758.4	-	19	2405	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ELMO1_ENST00000448602.1_Silent_p.L586L|ELMO1_ENST00000442504.1_Silent_p.L586L|ELMO1_ENST00000341056.3_Silent_p.L288L|ELMO1_ENST00000396045.3_Silent_p.L106L|ELMO1_ENST00000396040.2_Silent_p.L106L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	586	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCCGTAATGCAGGACTTTGT	0.453																																						uc022abv.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1756-1758)ctG>ctA		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							87	78	81					7																	36917679		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917679C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1758G>A	7.37:g.36917679C>T						ELMO1_uc003tfi.2_Silent_p.L106L|ELMO1_uc003tfj.2_Silent_p.L106L|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.L490L|ELMO1_uc003tfk.2_Silent_p.L586L|ELMO1_uc010kxg.2_Silent_p.L586L	p.L586L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			18	2468	-			586			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1758G>A	CCDS5449.1																																																																																				0.453	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	36917679	C	T	36917679	2	4	150	1	0	0	0	0	0	0	0	1	5065	697	25	3		3	ELMO1	7	36917679	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	34661876	36917679	122220984	44	10274											
ELMO1	9844	broad.mit.edu	37	chr7	37172811	37172811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaggtggagtctgcGtgaagtccatggcagggttg	8	9	15	9	1	1	1	0	1	1	0	3	2	3	2	2	4	1	2	2	4	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:37172811G>A	ENST00000310758.4	-	14	1762	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	ELMO1_ENST00000448602.1_Missense_Mutation_p.T372M|ELMO1_ENST00000442504.1_Missense_Mutation_p.T372M|ELMO1_ENST00000341056.3_Missense_Mutation_p.T74M	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	372	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.T372M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGAGTCTGCGTGAAGTCCAT	0.463																																						uc022abv.1																			1	Substitution - Missense(1)	p.T372M(2)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1114-1116)aCg>aTg		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							155	134	141					7																	37172811		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172811G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1115C>T	7.37:g.37172811G>A	ENSP00000312185:p.Thr372Met					ELMO1_uc011kbc.2_Missense_Mutation_p.T276M|ELMO1_uc003tfk.2_Missense_Mutation_p.T372M|ELMO1_uc010kxg.2_Missense_Mutation_p.T372M	p.T372M	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			13	1825	-			372			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1115C>T	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.689557|2.689557	0.48097|0.48097	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Engulfment/cell motility, ELMO (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.16903|0.16903	0.455|0.455	0.58432|0.58432	D|D	0.999997|0.999997	.|B	.|0.25772	.|0.134	.|B	.|0.22753	.|0.041	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.40728	.|T	.|0.16	.|.	18.0472|18.0472	0.89336|0.89336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372	.|Q92556	.|ELMO1_HUMAN	C|M	152|74;372;276;372;372	.|ENSP00000342142:T74M;ENSP00000312185:T372M;ENSP00000406952:T372M;ENSP00000394458:T372M	.|ENSP00000312185:T372M	R|T	-|-	1|2	0|0	ELMO1|ELMO1	37139336|37139336	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	7.036000|7.036000	0.76524|0.76524	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		A	37172811	G	A	37172811	3	1	150	1	0	0	0	0	1	0	0	0	5065	1145	40	1	1104	1	ELMO1	7	37172811	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	255132	37172811	121965852	45	10275											
DDC	1644	broad.mit.edu	37	chr7	50596925	50596925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcggatgagtaagccAccagcttctccatgatagcg	10	9	10	12	2	1	3	0	3	1	0	3	4	1	4	4	1	3	2	4	1	2	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:50596925A>G	ENST00000444124.2	-	5	751	c.551T>C	c.(550-552)gTg>gCg	p.V184A	DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.V184A|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.V106A|DDC_ENST00000380984.4_Missense_Mutation_p.V184A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	184					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGAGTAAGCCACCAGCTTCTC	0.547																																						uc003tpg.4																			0		p.V184V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(550-552)gTg>gCg		Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						86	81	83					7																	50596925		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50596925A>G		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.551T>C	7.37:g.50596925A>G	ENSP00000403644:p.Val184Ala					DDC_uc022ade.1_Missense_Mutation_p.V106A|DDC_uc003tpf.4_Missense_Mutation_p.V184A|DDC_uc022adb.1_Missense_Mutation_p.V146A|DDC_uc022adc.1_Missense_Mutation_p.V184A|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.V184A|LOC100129427_uc022adg.1_5'Flank	p.V184A	NM_001082971	NP_001076440	P20711	DDC_HUMAN			4	752	-	Glioma(55;0.08)|all_neural(89;0.245)		184					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.551T>C	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046489	0.36085	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.95	3.8	0.43715	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053014	0.85682	D	0.000000	T	0.69233	0.3088	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.72431	-0.4296	10	0.87932	D	0	-44.3487	9.6903	0.40125	0.9169:0.0:0.0831:0.0	.	184	P20711	DDC_HUMAN	A	184;106;184;184	ENSP00000350616:V184A;ENSP00000395069:V106A;ENSP00000403644:V184A;ENSP00000370371:V184A	ENSP00000350616:V184A	V	-	2	0	DDC	50564419	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	7.972000	0.88022	0.919000	0.36945	-0.250000	0.11733	GTG		0.547	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			G	50596925	A	G	50596925	3	3	150	1	0	0	0	0	1	0	0	0	4325	159	6	4	931	4	DDC	7	50596925	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	13424114	50596925	108541738	46	10276											
EGFR	1956	broad.mit.edu	37	chr7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagccacgtgcaaggacAcctgccccccactcatgctc	10	5	8	18	2	1	0	1	0	0	0	2	2	1	1	5	1	4	2	5	1	2	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.T263P(8)|p.V30_R297>G(5)	central_nervous_system(4)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(787-789)Acc>Ccc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						220	172	188					7																	55221743		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221743A>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.787A>C	7.37:g.55221743A>C	ENSP00000275493:p.Thr263Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.T263P|EGFR_uc003tqi.3_Missense_Mutation_p.T263P|EGFR_uc003tqj.3_Missense_Mutation_p.T263P|EGFR_uc022adm.1_Missense_Mutation_p.T263P|EGFR_uc010kzg.2_Missense_Mutation_p.T218P|EGFR_uc022adn.1_Missense_Mutation_p.T218P|EGFR_uc011kco.2_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.T263P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		263					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.787A>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866807	0.51588	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.244508	0.45361	D	0.000372	D	0.86619	0.5976	M	0.68593	2.085	0.39155	D	0.962303	P;P;P;P;P	0.52061	0.642;0.483;0.95;0.894;0.794	B;B;P;P;P	0.51079	0.433;0.286;0.658;0.56;0.487	D	0.87155	0.2211	10	0.42905	T	0.14	.	9.6762	0.40043	0.9225:0.0:0.0775:0.0	.	218;263;263;263;263	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	218;263;133;263;263;263;263;210;57	ENSP00000415559:T218P;ENSP00000342376:T263P;ENSP00000345973:T263P;ENSP00000413843:T263P;ENSP00000275493:T263P;ENSP00000410031:T263P;ENSP00000395243:T210P	ENSP00000275493:T263P	T	+	1	0	EGFR	55189237	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	2.639000	0.46570	2.272000	0.75746	0.460000	0.39030	ACC		0.577	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55221743	A	C	55221743	3	2	150	1	0	0	0	0	1	0	0	0	4967	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	4624818	55221743	103916920	47	10277											
CACNA2D1	781	broad.mit.edu	37	chr7	81589046	81589046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggatacaagtctgctcCgcttgtatgagcagtcgtgt	10	11	11	9	2	1	1	0	1	1	0	3	2	2	2	1	1	3	4	1	1	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:81589046C>T	ENST00000356253.5	-	37	3357	c.3102G>A	c.(3100-3102)gcG>gcA	p.A1034A	CACNA2D1_ENST00000356860.3_Silent_p.A1022A|CACNA2D1_ENST00000535308.1_Silent_p.A234A			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1034					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAGTCTGCTCCGCTTGTATGA	0.368																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3064-3066)gcG>gcA		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						83	73	76					7																	81589046		2202	4300	6502	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81589046C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3102G>A	7.37:g.81589046C>T						CACNA2D1_uc011kgy.1_Silent_p.A234A	p.A1022A	NM_000722	NP_000713	P54289	CA2D1_HUMAN			36	3322	-			1034					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.3066G>A																																																																																					0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81589046	C	T	81589046	2	4	150	1	0	0	0	0	0	0	0	1	2548	639	23	2		2	CACNA2D1	7	81589046	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	26367303	81589046	77549617	48	10278											
ABCB1	5243	broad.mit.edu	37	chr7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaagccaatttgaatagcGaaactaaaaagagagaaaaa	22	6	8	5	1	1	3	1	1	0	2	1	5	1	3	1	0	3	0	1	0	10	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTTGAATAGCGAAACTAAAAA	0.378																																						uc003uiz.2																			0		p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(121-123)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						49	51	50					7																	87214993		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87214993G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.121C>T	7.37:g.87214993G>A	ENSP00000265724:p.Arg41Cys					ABCB1_uc011khc.2_Missense_Mutation_p.R41C	p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN			4	614	-	Esophageal squamous(14;0.00164)		41					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.121C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159578	0.38119	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177	D;D;T	0.84873	-1.91;-1.91;0.47	5.72	4.82	0.62117	ABC transporter, transmembrane domain, type 1 (1);	0.102456	0.64402	D	0.000002	D	0.83487	0.5265	N	0.08118	0	0.48696	D	0.999694	D;D	0.89917	0.984;1.0	P;D	0.97110	0.585;1.0	D	0.85909	0.1439	10	0.87932	D	0	-11.0394	12.2311	0.54488	0.0:0.0:0.8314:0.1686	.	41;41	B5AK60;P08183	.;MDR1_HUMAN	C	41	ENSP00000265724:R41C;ENSP00000444095:R41C;ENSP00000399419:R41C	ENSP00000265724:R41C	R	-	1	0	ABCB1	87052929	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.548000	0.45794	2.700000	0.92200	0.563000	0.77884	CGC		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87214993	G	A	87214993	3	1	150	1	0	0	0	0	1	0	0	0	40	1058	37	2	3821	2	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	5625947	87214993	71923670	49	10279											
RUNDC3B	154661	broad.mit.edu	37	chr7	87280179	87280179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggtcttgctttgagaCaattgatgattcttctcctg	7	17	9	8	1	3	4	0	4	3	1	5	5	3	4	1	1	1	1	1	1	1	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87280179C>A	ENST00000338056.3	+	2	575	c.164C>A	c.(163-165)aCa>aAa	p.T55K	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T55K|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T55K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	55										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGCTTTGAGACAATTGATGAT	0.338																																						uc003ujb.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(163-165)aCa>aAa		Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.							88	86	86					7																	87280179		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87280179C>A		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.164C>A	7.37:g.87280179C>A	ENSP00000337732:p.Thr55Lys					ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T55K|RUNDC3B_uc011khe.2_Missense_Mutation_p.T55K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.T55K	p.T55K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			1	575	+	Esophageal squamous(14;0.00164)		55					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.164C>A	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984472	0.93044	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.12255	2.7;2.7;2.7	5.07	5.07	0.68467	.	0.099330	0.64402	D	0.000002	T	0.27349	0.0671	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.989;0.972	D;D;D;P	0.78314	0.991;0.991;0.978;0.694	T	0.01743	-1.1283	10	0.54805	T	0.06	-7.4738	17.5686	0.87928	0.0:1.0:0.0:0.0	.	55;55;55;55	E9PBR4;B4DFD0;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	K	55	ENSP00000337732:T55K;ENSP00000420394:T55K;ENSP00000378149:T55K	ENSP00000337732:T55K	T	+	2	0	RUNDC3B	87118115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.501000	0.84356	0.585000	0.79938	ACA		0.338	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		A	87280179	C	A	87280179	3	1	150	1	0	0	0	0	1	0	0	0	13745	478	17	5	170	5	RUNDC3B	7	87280179	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	65186	87280179	71858484	50	10280											
PON1	5444	broad.mit.edu	37	chr7	94937424	94937424	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacatacgaccacgctaaAcccaaatacatctcccagga	17	5	4	15	2	1	0	0	0	1	0	2	2	1	1	3	1	4	1	3	1	6	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:94937424A>T	ENST00000222381.3	-	6	828	c.597T>A	c.(595-597)ggT>ggA	p.G199G	PON1_ENST00000542556.1_Silent_p.G199G	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	199					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	ACCACGCTAAACCCAAATACA	0.418																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.3																			0		p.L198fs*3(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(595-597)ggT>ggA		Homo sapiens paraoxonase 1 (PON1), mRNA.	Atorvastatin(DB01076)|Cefazolin(DB01327)						143	119	127					7																	94937424		2203	4300	6503	SO:0001819	synonymous_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937424A>T	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.597T>A	7.37:g.94937424A>T						PON1_uc011kih.2_Silent_p.G199G	p.G199G	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	694	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		199					B2RA40|Q16052|Q6B0J6|Q9UCB1	Silent	SNP	ENST00000222381.3	37	c.597T>A	CCDS5638.1																																																																																				0.418	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		T	94937424	A	T	94937424	2	4	150	1	0	0	0	0	0	0	0	1	12248	30	2	5		5	PON1	7	94937424	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	7657245	94937424	64201239	51	10281											
LRCH4	4034	broad.mit.edu	37	chr7	100175848	100175848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtccagcccaccatcGtaccgatgtcccggaaatag	10	7	9	15	3	0	1	0	1	0	0	3	3	2	2	6	1	2	1	6	1	3	2	rs150987161	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100175848G>A	ENST00000310300.6	-	7	934	c.882C>T	c.(880-882)taC>taT	p.Y294Y	LRCH4_ENST00000497245.1_De_novo_Start_OutOfFrame	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	294					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCACCATCGTACCGATGTC	0.597																																						uc003uvj.3																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(880-882)taC>taT		Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.		G		8,4398	14.3+/-33.2	0,8,2195	126	99	108		882	-6.2	0.9	7	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	LRCH4	NM_002319.3		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		294/684	100175848	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100175848G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.882C>T	7.37:g.100175848G>A						LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	p.Y294Y	NM_002319	NP_002310	O75427	LRCH4_HUMAN			6	935	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		294					A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.882C>T	CCDS34706.1																																																																																				0.597	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		A	100175848	G	A	100175848	2	1	150	1	0	0	0	0	0	0	0	1	8935	1140	40	1		1	LRCH4	7	100175848	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	5238424	100175848	58962815	52	10282											
PCOLCE	5118	broad.mit.edu	37	chr7	100201641	100201641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacctggagctgcacccCgcctgccgctacgatgctct	5	9	10	17	4	1	0	0	0	1	0	2	3	1	1	5	1	5	4	5	1	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100201641C>T	ENST00000223061.5	+	3	544	c.264C>T	c.(262-264)ccC>ccT	p.P88P	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	88	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTGCACCCCGCCTGCCGCT	0.672																																						uc003uvo.3																			0		p.H87P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(262-264)ccC>ccT		Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.							64	68	67					7																	100201641		2203	4300	6503	SO:0001819	synonymous_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201641C>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.264C>T	7.37:g.100201641C>T						LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Silent_p.P88P	p.P88P	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			2	462	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		88			CUB 1.		B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	c.264C>T	CCDS5700.1																																																																																				0.672	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		T	100201641	C	T	100201641	2	4	150	1	0	0	0	0	0	0	0	1	11594	639	23	2		2	PCOLCE	7	100201641	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	25793	100201641	58937022	53	10283											
SH2D4A	63898	broad.mit.edu	37	chr8	19190497	19190497	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttcattggaaacttggAgctgataaggaagtctgggt	10	12	14	5	1	2	1	1	1	1	0	3	4	2	4	0	5	2	2	0	5	3	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:19190497A>G	ENST00000265807.3	+	3	624	c.213A>G	c.(211-213)ggA>ggG	p.G71G	SH2D4A_ENST00000518040.1_Silent_p.G26G|SH2D4A_ENST00000519207.1_Silent_p.G71G	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	71					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGAAACTTGGAGCTGATAAGG	0.408																																						uc003wzc.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(211-213)ggA>ggG		Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.							170	161	164					8																	19190497		2203	4300	6503	SO:0001819	synonymous_variant	63898					cytoplasm|nucleus	protein binding	g.chr8:19190497A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.213A>G	8.37:g.19190497A>G						SH2D4A_uc003wzb.3_Silent_p.G71G|SH2D4A_uc011kym.2_Silent_p.G26G	p.G71G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	2	521	+			71					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	ENST00000265807.3	37	c.213A>G	CCDS6009.1																																																																																				0.408	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		G	19190497	A	G	19190497	2	3	150	1	0	0	0	0	0	0	0	1	14235	291	11	4		4	SH2D4A	8	19190497	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08		19190497	127173525	54	10284											
CPSF1	29894	broad.mit.edu	37	chr8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatgatctcctgccccGtctgcaggatctgcgggcga	5	9	12	15	3	3	1	0	1	3	0	5	3	4	2	4	2	3	2	4	2	0	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145623823G>A	ENST00000349769.3	-	19	1857	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	588					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1762-1764)aCg>aTg		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							78	83	82					8																	145623823		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623823G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1763C>T	8.37:g.145623823G>A	ENSP00000339353:p.Thr588Met						p.T588M	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1838	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		588					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1763C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532109	0.85812	.	.	ENSG00000071894	ENST00000349769	T	0.42900	0.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72629	-0.4235	10	0.87932	D	0	-11.9983	17.2111	0.86930	0.0:0.0:1.0:0.0	.	588	Q10570	CPSF1_HUMAN	M	588	ENSP00000339353:T588M	ENSP00000339353:T588M	T	-	2	0	CPSF1	145594631	1.000000	0.71417	0.960000	0.40013	0.643000	0.38383	6.724000	0.74747	2.658000	0.90341	0.655000	0.94253	ACG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145623823	G	A	145623823	3	1	150	1	0	0	0	0	1	0	0	0	3824	1145	40	1	2648	1	CPSF1	8	145623823	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	126433326	145623823	740199	55	10285											
LRRC14	9684	broad.mit.edu	37	chr8	145745327	145745327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgcccactgcagccGtgccctcctgcaggagcggc	5	6	15	15	2	0	0	0	0	0	0	1	2	1	2	4	3	6	2	4	3	0	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145745327G>A	ENST00000292524.1	+	2	364	c.218G>A	c.(217-219)cGt>cAt	p.R73H	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R73H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACTGCAGCCGTGCCCTCCTG	0.627																																						uc003zdk.2																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(217-219)cGt>cAt		Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.							68	69	68					8																	145745327		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745327G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.218G>A	8.37:g.145745327G>A	ENSP00000292524:p.Arg73His					RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73H	p.R73H	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		1	392	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		73					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.218G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571194	0.65765	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.46451	2.2;5.03;5.03;0.9;0.87	3.95	3.95	0.45737	.	0.359789	0.22411	N	0.060419	T	0.44582	0.1300	L	0.40543	1.245	0.34090	D	0.660614	D	0.63046	0.992	P	0.51974	0.686	T	0.58662	-0.7597	10	0.44086	T	0.13	.	13.5144	0.61533	0.0:0.0:1.0:0.0	.	73	Q15048	LRC14_HUMAN	H	73	ENSP00000436452:R73H;ENSP00000434768:R73H;ENSP00000292524:R73H;ENSP00000435985:R73H;ENSP00000434738:R73H	ENSP00000292524:R73H	R	+	2	0	LRRC14	145716135	0.024000	0.19004	0.989000	0.46669	0.939000	0.58152	2.009000	0.40903	2.052000	0.61016	0.462000	0.41574	CGT		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		A	145745327	G	A	145745327	3	1	150	1	0	0	0	0	1	0	0	0	8968	1145	40	1	220	1	LRRC14	8	145745327	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	121504	145745327	618695	56	10286											
VLDLR	7436	broad.mit.edu	37	chr9	2643641	2643641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgtagcctctcgaacttgCcgacctgaccaatttgaatg	9	13	8	11	2	1	2	0	2	1	0	2	4	1	2	4	0	3	1	4	0	4	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:2643641C>T	ENST00000382100.3	+	6	1190	c.834C>T	c.(832-834)tgC>tgT	p.C278C	VLDLR_ENST00000382099.2_Silent_p.C278C|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	278	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCGAACTTGCCGACCTGACC	0.488																																						uc003zhk.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(832-834)tgC>tgT		Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.							140	113	122					9																	2643641		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643641C>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.834C>T	9.37:g.2643641C>T						VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_Non-coding_Transcript	p.C278C	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	5	1231	+			278			LDL-receptor class A 7.		B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.834C>T	CCDS6446.1																																																																																				0.488	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		T	2643641	C	T	2643641	2	4	150	1	0	0	0	0	0	0	0	1	17171	747	26	3		3	VLDLR	9	2643641	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08		2643641	138569790	57	10287											
FAM122A	116224	broad.mit.edu	37	chr9	71395730	71395730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatatcagccaaagagatTtttccagggcatcaccaaca	15	9	7	10	0	2	2	2	1	0	1	3	3	3	2	3	1	2	1	3	1	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:71395730T>C	ENST00000394264.3	+	1	767	c.650T>C	c.(649-651)tTt>tCt	p.F217S	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	217										endometrium(1)|lung(2)	3						CCAAAGAGATTTTTCCAGGGC	0.453																																						uc004agw.1																			0				endometrium(1)|lung(2)	3						c.(649-651)tTt>tCt		Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.							112	109	110					9																	71395730		2203	4300	6503	SO:0001583	missense	116224							g.chr9:71395730T>C	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.650T>C	9.37:g.71395730T>C	ENSP00000377807:p.Phe217Ser					PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	p.F217S	NM_138333	NP_612206	Q96E09	F122A_HUMAN			0	767	+			217						Missense_Mutation	SNP	ENST00000394264.3	37	c.650T>C	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.950594	0.53186	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.57595	0.39	4.42	4.42	0.53409	.	0.081763	0.64402	D	0.000008	T	0.36054	0.0953	L	0.34521	1.04	0.32160	N	0.583105	P	0.40476	0.718	B	0.35353	0.201	T	0.45585	-0.9251	10	0.22706	T	0.39	-31.4694	10.3563	0.43967	0.0:0.0:0.0:1.0	.	217	Q96E09	F122A_HUMAN	S	217;201	ENSP00000377807:F217S	ENSP00000366492:F201S	F	+	2	0	FAM122A	70585550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.956000	0.70315	2.227000	0.72691	0.460000	0.39030	TTT		0.453	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		C	71395730	T	C	71395730	3	2	150	1	0	0	0	0	1	0	0	0	5419	1841	64	4	652	4	FAM122A	9	71395730	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	68752089	71395730	69817701	58	10288											
NFIL3	4783	broad.mit.edu	37	chr9	94172272	94172272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacccagagaaagaattccCcatatagttttgatagatgg	14	11	9	7	0	0	4	0	1	0	3	1	5	1	4	3	1	1	2	3	1	6	7			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:94172272C>T	ENST00000297689.3	-	2	1139	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	249					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGAATTCCCCATATAGTTT	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc022bjt.1																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(745-747)Ggg>Agg		Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.							122	125	124					9																	94172272		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172272C>T	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.745G>A	9.37:g.94172272C>T	ENSP00000297689:p.Gly249Arg					NFIL3_uc004arh.3_Missense_Mutation_p.G249R	p.G249R	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			0	745	-			249					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.745G>A	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145597	0.37923	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	3.76	0.43208	Vertebrate interleukin-3 regulated transcription factor (1);	0.152871	0.44688	D	0.000435	T	0.74854	0.3771	M	0.67953	2.075	0.45318	D	0.99831	D	0.69078	0.997	D	0.70016	0.967	T	0.76515	-0.2931	9	0.54805	T	0.06	-36.3199	12.7752	0.57443	0.0:0.9207:0.0:0.0793	.	249	Q16649	NFIL3_HUMAN	R	249	.	ENSP00000297689:G249R	G	-	1	0	NFIL3	93212093	0.998000	0.40836	0.621000	0.29145	0.079000	0.17450	4.038000	0.57318	1.199000	0.43173	0.561000	0.74099	GGG		0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		T	94172272	C	T	94172272	3	4	150	1	0	0	0	0	1	0	0	0	10373	623	22	3	647	3	NFIL3	9	94172272	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	22776542	94172272	47041159	59	10289											
FGD3	89846	broad.mit.edu	37	chr9	95768391	95768391	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtcaagaactttgacCgagccgtagggctggtgagc	10	9	14	8	2	1	3	1	2	0	1	1	4	1	3	2	2	3	3	2	2	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:95768391C>T	ENST00000375482.3	+	6	1262	c.766C>T	c.(766-768)Cga>Tga	p.R256*	FGD3_ENST00000337352.6_Nonsense_Mutation_p.R256*|FGD3_ENST00000416701.2_Nonsense_Mutation_p.R256*	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	256	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAACTTTGACCGAGCCGTAGG	0.582																																						uc004asz.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(766-768)Cga>Tga		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.							67	74	72					9																	95768391		2164	4285	6449	SO:0001587	stop_gained	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95768391C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.766C>T	9.37:g.95768391C>T	ENSP00000364631:p.Arg256*					FGD3_uc004asw.2_Nonsense_Mutation_p.R256*|FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.3_Nonsense_Mutation_p.R59*	p.R256*	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN			5	1294	+			256			DH.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Nonsense_Mutation	SNP	ENST00000375482.3	37	c.766C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	42	9.638581	0.99226	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	.	.	.	4.54	-1.18	0.09617	.	0.000000	0.36234	N	0.002715	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.066	0.71996	0.8263:0.1737:0.0:0.0	.	.	.	.	X	256	.	ENSP00000336914:R256X	R	+	1	2	FGD3	94808212	1.000000	0.71417	0.983000	0.44433	0.948000	0.59901	1.961000	0.40432	-0.136000	0.11475	0.655000	0.94253	CGA		0.582	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		T	95768391	C	T	95768391	4	4	150	1	0	0	0	0	0	1	0	0	5834	644	23	2	780	2	FGD3	9	95768391	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1596119	95768391	45445040	60	10290											
HEMGN	55363	broad.mit.edu	37	chr9	100700360	100700360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaatggttctcttctTgatgagggtcaggtgtctga	7	14	14	6	0	4	4	1	3	3	1	5	5	4	4	0	4	0	1	0	4	1	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:100700360T>C	ENST00000259456.3	-	2	202	c.59A>G	c.(58-60)cAa>cGa	p.Q20R		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	20	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTTCTTGATGAGGGTC	0.423																																						uc004axy.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(58-60)cAa>cGa		Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.							214	183	194					9																	100700360		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100700360T>C	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.59A>G	9.37:g.100700360T>C	ENSP00000259456:p.Gln20Arg					HEMGN_uc004axz.3_Missense_Mutation_p.Q20R	p.Q20R	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			0	167	-		Acute lymphoblastic leukemia(62;0.0559)	20			Necessary for nuclear localization.		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.59A>G	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	T	8.885	0.952651	0.18431	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.34	-0.786	0.10946	.	0.504809	0.20146	N	0.098273	T	0.26304	0.0642	L	0.55481	1.735	0.09310	N	1	B	0.14805	0.011	B	0.20955	0.032	T	0.29366	-1.0014	9	0.07175	T	0.84	0.0	2.5731	0.04799	0.1404:0.0921:0.3997:0.3678	.	20	Q9BXL5	HEMGN_HUMAN	R	20	.	ENSP00000259456:Q20R	Q	-	2	0	HEMGN	99740181	0.003000	0.15002	0.000000	0.03702	0.381000	0.30169	0.355000	0.20163	-0.297000	0.08934	0.533000	0.62120	CAA		0.423	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		C	100700360	T	C	100700360	3	2	150	1	0	0	0	0	1	0	0	0	7050	1812	63	4	1411	4	HEMGN	9	100700360	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	4931969	100700360	40513071	61	10291											
KLF4	9314	broad.mit.edu	37	chr9	110249362	110249362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactctttgtgtaggttttgCcgcagcccgcgtaatcacaa	9	12	9	11	3	2	0	1	0	1	0	2	0	2	0	2	1	3	4	2	1	4	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:110249362C>T	ENST00000374672.4	-	4	1684	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	438	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTAGGTTTTGCCGCAGCCCGC	0.602																																						uc004bdh.3																			0		p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1285-1287)gGc>gAc		Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.							275	246	256					9																	110249362		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249362C>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1211G>A	9.37:g.110249362C>T	ENSP00000363804:p.Gly404Asp					KLF4_uc004bdf.2_Missense_Mutation_p.G354D|KLF4_uc022blk.1_Missense_Mutation_p.G70D|KLF4_uc004bdg.3_Missense_Mutation_p.G404D	p.G429D	NM_004235	NP_004226	O43474	KLF4_HUMAN			2	1907	-			438					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1286G>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	34	5.408949	0.96072	.	.	ENSG00000136826	ENST00000374672	T	0.35236	1.32	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332375	0.21750	N	0.069683	T	0.57446	0.2054	M	0.67569	2.06	0.80722	D	1	D;D	0.59767	0.986;0.975	P;P	0.59643	0.722;0.861	T	0.59247	-0.7490	10	0.72032	D	0.01	.	19.1577	0.93518	0.0:1.0:0.0:0.0	.	438;404	O43474;O43474-1	KLF4_HUMAN;.	D	404	ENSP00000363804:G404D	ENSP00000363804:G404D	G	-	2	0	KLF4	109289183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.617000	0.88574	0.655000	0.94253	GGC		0.602	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		T	110249362	C	T	110249362	3	4	150	1	0	0	0	0	1	0	0	0	8348	739	26	3	236	3	KLF4	9	110249362	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	9549002	110249362	30964069	62	10292											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							60	63	62					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R335*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2035	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720852	C	T	89720852	4	4	150	1	0	0	0	0	0	1	0	0	12738	644	23	2	1033	2	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		89720852	45813895	63	10293											
COL17A1	1308	broad.mit.edu	37	chr10	105813706	105813706	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttttgaccctttggtccTtgtggacctgggtggcccaa	4	14	11	12	0	0	1	0	1	0	0	1	2	1	2	5	4	0	0	5	4	1	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:105813706T>C	ENST00000353479.5	-	22	2096	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Silent_p.Q602Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	602	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTTGGTCCTTGTGGACCTG	0.443																																						uc001kxr.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1804-1806)caA>caG		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							81	73	76					10																	105813706		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105813706T>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1806A>G	10.37:g.105813706T>C						COL17A1_uc010qqv.1_Silent_p.Q586Q	p.Q602Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	21	1975	-		Colorectal(252;0.103)|Breast(234;0.122)	602			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.1806A>G	CCDS7554.1																																																																																				0.443	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		C	105813706	T	C	105813706	2	2	150	1	0	0	0	0	0	0	0	1	3674	1606	56	4		4	COL17A1	10	105813706	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	16092854	105813706	29721041	64	10294											
WDR11	55717	broad.mit.edu	37	chr10	122645345	122645345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtggtcaccatctcacaActtgaagagcctgagaaaga	14	7	11	9	0	2	4	2	2	1	3	3	6	2	5	2	2	2	0	2	2	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:122645345A>G	ENST00000263461.6	+	15	2114	c.1868A>G	c.(1867-1869)aAc>aGc	p.N623S	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCATCTCACAACTTGAAGAGC	0.488																																						uc021pzt.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1867-1869)aAc>aGc		Homo sapiens WD repeat domain 11 (WDR11), mRNA.							139	137	138					10																	122645345		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122645345A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1868A>G	10.37:g.122645345A>G	ENSP00000263461:p.Asn623Ser					WDR11_uc010qte.2_Missense_Mutation_p.N225S|WDR11_uc001lfd.1_Missense_Mutation_p.N141S	p.N623S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			14	2114	+			623					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.1868A>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557300	0.45590	.	.	ENSG00000120008	ENST00000263461	D	0.91351	-2.83	5.56	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85869	0.5797	L	0.47716	1.5	0.58432	D	0.999992	B;B;B	0.33883	0.147;0.063;0.43	B;B;B	0.35859	0.062;0.062;0.212	T	0.79895	-0.1610	10	0.08599	T	0.76	-26.2601	12.718	0.57125	0.8623:0.1377:0.0:0.0	.	623;623;152	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	S	623	ENSP00000263461:N623S	ENSP00000263461:N623S	N	+	2	0	WDR11	122635335	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	8.923000	0.92808	0.921000	0.36994	-0.460000	0.05396	AAC		0.488	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			G	122645345	A	G	122645345	3	3	150	1	0	0	0	0	1	0	0	0	17270	43	2	4	1926	4	WDR11	10	122645345	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	16831639	122645345	12889402	65	10295											
OR51A2	401667	broad.mit.edu	37	chr11	4976146	4976146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggggagagacatgcccGgcaaagcggtggacaacggc	12	3	17	9	3	0	2	0	1	0	1	0	5	0	4	1	6	3	1	1	6	2	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:4976146G>A	ENST00000380371.1	-	1	797	c.798C>T	c.(796-798)gcC>gcT	p.A266A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACATGCCCGGCAAAGCGGT	0.453																																						uc010qyt.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(796-798)gcC>gcT		Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.							102	82	89					11																	4976146		2063	3768	5831	SO:0001819	synonymous_variant	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976146G>A	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.798C>T	11.37:g.4976146G>A							p.A266A	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	798	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	266						Silent	SNP	ENST00000380371.1	37	c.798C>T	CCDS31368.1																																																																																				0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		A	4976146	G	A	4976146	2	1	150	1	0	0	0	0	0	0	0	1	11086	1103	39	2		2	OR51A2	11	4976146	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		4976146	130030370	66	10296											
TRIM5	85363	broad.mit.edu	37	chr11	5699638	5699638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaaaatctgccaagacGttggttttgtcatactgtat	10	15	8	8	1	3	1	2	0	1	1	3	1	3	1	1	1	3	4	1	1	5	5	rs182373551		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:5699638G>A	ENST00000380034.3	-	4	796	c.540C>T	c.(538-540)aaC>aaT	p.N180N	TRIM5_ENST00000396853.4_Silent_p.N180N|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Silent_p.N180N|TRIM5_ENST00000380027.1_Silent_p.N180N|TRIM5_ENST00000396847.3_Silent_p.N180N|TRIM5_ENST00000396855.3_Silent_p.N180N	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	180					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGCCAAGACGTTGGTTTTGT	0.473													G|||	1	0.000199681	0	0	5008	,	,		19910	0.001		0	False		,,,				2504	0					uc001mbm.2																			0		p.N180S(1)|p.T179S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(538-540)aaC>aaT		Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.							115	111	113					11																	5699638		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699638G>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.540C>T	11.37:g.5699638G>A						TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.N180N|TRIM5_uc001mbp.3_Silent_p.N180N|TRIM5_uc021qcx.1_Silent_p.N180N	p.N180N	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	843	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	180					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.540C>T	CCDS31393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.528	-0.096421	0.07010	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	1.11	0.20524	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22487	-1.0215	4	.	.	.	.	2.6533	0.05004	0.5569:0.0:0.2459:0.1972	.	.	.	.	M	57	.	.	T	-	2	0	TRIM5	5656214	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.010000	0.13242	0.076000	0.16826	0.655000	0.94253	ACG		0.473	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		A	5699638	G	A	5699638	2	1	150	1	0	0	0	0	0	0	0	1	16522	1136	40	1		1	TRIM5	11	5699638	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	723492	5699638	129306878	67	10297											
NAV2	89797	broad.mit.edu	37	chr11	20065530	20065530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtctctgtccacagactGatgctgagaagcactcacag	12	8	10	11	0	2	4	1	2	1	3	4	5	3	4	1	0	2	2	1	0	1	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:20065530G>A	ENST00000396087.3	+	14	3079	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NAV2_ENST00000396085.1_Missense_Mutation_p.D971N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.D971N|NAV2_ENST00000533917.1_Missense_Mutation_p.D57N|NAV2_ENST00000527559.2_Missense_Mutation_p.D923N|NAV2_ENST00000540292.1_Missense_Mutation_p.D925N|NAV2_ENST00000311043.8_Missense_Mutation_p.D57N|NAV2_ENST00000360655.4_Missense_Mutation_p.D907N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	994					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D994N(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCACAGACTGATGCTGAGAA	0.507																																						uc010rdm.2																			1	Substitution - Missense(1)	p.D994N(2)	lung(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2980-2982)Gat>Aat		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							80	84	83					11																	20065530		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20065530G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2980G>A	11.37:g.20065530G>A	ENSP00000379396:p.Asp994Asn					NAV2_uc001mpp.3_Missense_Mutation_p.D907N|NAV2_uc001mpr.4_Missense_Mutation_p.D971N|NAV2_uc021qew.1_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.3_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	p.D994N	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			13	3341	+			994					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2980G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	37	6.149768	0.97324	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	T	0.61211	0.2329	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.983	D;D;D;P	0.81914	0.995;0.995;0.979;0.743	T	0.59931	-0.7361	9	.	.	.	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	57;57;971;907	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	N	907;971;971;994;923;925;57;57;57;57;57	ENSP00000353871:D907N;ENSP00000379394:D971N;ENSP00000309577:D971N;ENSP00000379396:D994N;ENSP00000435395:D923N;ENSP00000443489:D925N;ENSP00000437316:D57N;ENSP00000437136:D57N;ENSP00000431276:D57N;ENSP00000312169:D57N	.	D	+	1	0	NAV2	20022106	1.000000	0.71417	0.240000	0.24138	0.744000	0.42396	9.504000	0.97986	2.535000	0.85469	0.655000	0.94253	GAT		0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	20065530	G	A	20065530	3	1	150	1	0	0	0	0	1	0	0	0	10184	1290	45	3	3070	3	NAV2	11	20065530	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	14365892	20065530	114940986	68	10298											
OR10AG1	282770	broad.mit.edu	37	chr11	55735214	55735214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatagtacctgctccaaaGaataagattacaactattag	16	11	7	7	0	0	3	0	1	0	2	1	3	1	3	2	0	4	2	2	0	9	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:55735214G>T	ENST00000312345.2	-	1	776	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTGCTCCAAAGAATAAGATTA	0.388																																						uc010rit.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(724-726)ttC>ttA		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							66	65	65					11																	55735214		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735214G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.726C>A	11.37:g.55735214G>T	ENSP00000311477:p.Phe242Leu						p.F242L	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	726	-	Esophageal squamous(21;0.0137)		242					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.726C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732166	0.69189	.	.	ENSG00000174970	ENST00000312345	T	0.00285	8.3	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.00496	0.0016	M	0.82193	2.58	0.31566	N	0.656923	P	0.46784	0.884	P	0.48571	0.582	T	0.44498	-0.9324	10	0.87932	D	0	.	16.768	0.85528	0.0:0.0:1.0:0.0	.	242	Q8NH19	O10AG_HUMAN	L	242	ENSP00000311477:F242L	ENSP00000311477:F242L	F	-	3	2	OR10AG1	55491790	0.005000	0.15991	1.000000	0.80357	0.742000	0.42306	-0.279000	0.08479	2.569000	0.86673	0.477000	0.44152	TTC		0.388	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735214	G	T	55735214	3	4	150	1	0	0	0	0	1	0	0	0	10897	933	33	5	182	5	OR10AG1	11	55735214	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	35669684	55735214	79271302	69	10299											
OR5B2	390190	broad.mit.edu	37	chr11	58189829	58189829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaatttttgccttctcaaCactttcttgaatgcattctg	10	17	5	9	0	3	2	1	1	3	1	4	2	3	2	1	0	3	1	1	0	3	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:58189829C>A	ENST00000302581.2	-	1	957	c.906G>T	c.(904-906)gtG>gtT	p.V302V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTTCTCAACACTTTCTTGA	0.383																																						uc010rkg.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(904-906)gtG>gtT		Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.							60	60	60					11																	58189829		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189829C>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.906G>T	11.37:g.58189829C>A							p.V302V	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			0	958	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	302					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.906G>T	CCDS31550.1																																																																																				0.383	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		A	58189829	C	A	58189829	2	1	150	1	0	0	0	0	0	0	0	1	11150	465	17	5		5	OR5B2	11	58189829	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	2454615	58189829	76816687	70	10300											
WDR74	54663	broad.mit.edu	37	chr11	62602979	62602979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcccagatgggaaccCgcaagtccagccagtcattc	9	7	10	15	1	1	1	1	0	0	1	4	2	3	2	5	2	2	1	5	2	2	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:62602979C>T	ENST00000525239.1	-	7	1079	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000311713.7_Missense_Mutation_p.R181Q|WDR74_ENST00000529106.1_Missense_Mutation_p.R181Q|WDR74_ENST00000525752.1_Missense_Mutation_p.R124Q|WDR74_ENST00000540620.1_5'UTR|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.R181Q			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	181					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GATGGGAACCCGCAAGTCCAG	0.607																																						uc001nvm.2																			0				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						c.(541-543)cGg>cAg		Homo sapiens WD repeat domain 74 (WDR74), mRNA.							76	83	81					11																	62602979		1989	4166	6155	SO:0001583	missense	54663					nucleolus		g.chr11:62602979C>T		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.542G>A	11.37:g.62602979C>T	ENSP00000432119:p.Arg181Gln					WDR74_uc001nvl.2_Missense_Mutation_p.R181Q|WDR74_uc009yoi.2_Missense_Mutation_p.R181Q|WDR74_uc010rmk.2_3'UTR	p.R181Q	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN			6	710	-			181					A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	c.542G>A	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275697	0.95459	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.55	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.067256	0.64402	D	0.000011	T	0.45558	0.1348	M	0.73598	2.24	0.50039	D	0.999844	D;D;D	0.62365	0.987;0.987;0.991	P;P;P	0.54100	0.64;0.64;0.742	T	0.37888	-0.9686	10	0.40728	T	0.16	-24.8612	12.6786	0.56908	0.0:0.9179:0.0:0.0821	.	124;181;181	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	Q	181;181;181;181;124	ENSP00000308931:R181Q;ENSP00000435726:R181Q;ENSP00000432119:R181Q;ENSP00000278856:R181Q;ENSP00000432113:R124Q	ENSP00000278856:R181Q	R	-	2	0	WDR74	62359555	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	2.616000	0.88540	0.651000	0.88453	CGG		0.607	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		T	62602979	C	T	62602979	3	4	150	1	0	0	0	0	1	0	0	0	17321	652	23	2	639	2	WDR74	11	62602979	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	4413150	62602979	72403537	71	10301											
HTR3B	9177	broad.mit.edu	37	chr11	113813844	113813844	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccagtgtgctggtGggctacaccgtcttcagggt	7	11	13	10	1	3	1	2	0	1	1	3	1	3	1	2	3	2	2	2	3	2	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:113813844G>T	ENST00000260191.2	+	7	1094	c.837G>T	c.(835-837)gtG>gtT	p.V279V	HTR3B_ENST00000537778.1_Silent_p.V268V	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	279					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GTGTGCTGGTGGGCTACACCG	0.572																																						uc001pok.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(835-837)gtG>gtT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.							117	88	98					11																	113813844		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813844G>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.837G>T	11.37:g.113813844G>T						HTR3B_uc001pol.3_Silent_p.V268V	p.V279V	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	6	975	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	279					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.837G>T	CCDS8364.1																																																																																				0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		T	113813844	G	T	113813844	2	4	150	1	0	0	0	0	0	0	0	1	7445	1335	47	5		5	HTR3B	11	113813844	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	51210865	113813844	21192672	72	10302											
VWF	7450	broad.mit.edu	37	chr12	6058287	6058287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacctgcatgggctccGtccgtgtcggagagcagcag	6	6	16	13	3	0	1	0	0	0	1	3	2	2	1	4	3	3	4	4	3	0	0	rs374314985		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:6058287G>A	ENST00000261405.5	-	52	8590	c.8336C>T	c.(8335-8337)aCg>aTg	p.T2779M	ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000356134.5_5'Flank|ANO2_ENST00000546188.1_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2779	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGGCTCCGTCCGTGTCGG	0.562																																						uc001qnn.1																			0		p.R2778Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(8335-8337)aCg>aTg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)	G	MET/THR	0,4406		0,0,2203	102	83	89		8336	1.4	0.1	12		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	VWF	NM_000552.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2779/2814	6058287	1,13005	2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058287G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8336C>T	12.37:g.6058287G>A	ENSP00000261405:p.Thr2779Met					ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	p.T2779M	NM_000552	NP_000543	P04275	VWF_HUMAN			51	8586	-			2779			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8336C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965903	0.34659	0.0	1.16E-4	ENSG00000110799	ENST00000261405	T	0.40476	1.03	4.89	1.4	0.22301	Cystine knot, C-terminal (3);	0.237818	0.21941	N	0.066864	T	0.50000	0.1590	M	0.88450	2.955	0.23923	N	0.996456	D	0.55605	0.972	P	0.46389	0.515	T	0.50233	-0.8852	10	0.87932	D	0	.	7.2911	0.26366	0.0948:0.0:0.6082:0.297	.	2779	P04275	VWF_HUMAN	M	2779	ENSP00000261405:T2779M	ENSP00000261405:T2779M	T	-	2	0	VWF	5928548	0.545000	0.26449	0.057000	0.19452	0.828000	0.46876	0.760000	0.26475	0.441000	0.26529	0.555000	0.69702	ACG		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6058287	G	A	6058287	3	1	150	1	0	0	0	0	1	0	0	0	17243	1145	40	1	109	1	VWF	12	6058287	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		6058287	127793608	73	10303											
GYS2	2998	broad.mit.edu	37	chr12	21733300	21733300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatgcttattcattgcGtccactgctcttctgacagc	7	13	7	14	1	3	1	1	1	2	0	4	1	4	1	2	0	5	2	2	0	1	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:21733300G>A	ENST00000261195.2	-	2	533	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	93					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TATTCATTGCGTCCACTGCTC	0.403																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(277-279)gaC>gaT		Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.							222	199	207					12																	21733300		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733300G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.279C>T	12.37:g.21733300G>A							p.D93D	NM_021957	NP_068776	P54840	GYS2_HUMAN			1	534	-			93					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.279C>T	CCDS8690.1																																																																																				0.403	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		A	21733300	G	A	21733300	2	1	150	1	0	0	0	0	0	0	0	1	6913	1136	40	1		1	GYS2	12	21733300	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	15675013	21733300	112118595	74	10304											
MBD6	114785	broad.mit.edu	37	chr12	57922312	57922312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgagcccaaggatccacCccctcccgggccccattctg	6	7	9	19	1	1	1	0	1	1	0	3	2	3	2	7	2	2	1	7	2	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:57922312C>T	ENST00000355673.3	+	10	3145	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	MBD6_ENST00000431731.2_Missense_Mutation_p.P930L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	930						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AAGGATCCACCCCCTCCCGGG	0.577																																						uc001soj.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2788-2790)cCc>cTc		Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.							45	54	51					12																	57922312		2202	4300	6502	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57922312C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2789C>T	12.37:g.57922312C>T	ENSP00000347896:p.Pro930Leu					MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_Non-coding_Transcript	p.P930L	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			9	3013	+			930					Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2789C>T	CCDS8944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.77|16.77	3.214383|3.214383	0.58452|0.58452	.|.	.|.	ENSG00000166987|ENSG00000166987	ENST00000355673;ENST00000431731|ENST00000300263	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.355545|0.355545	0.23164|0.23164	N|N	0.051216|0.051216	T|T	0.40347|0.40347	0.1113|0.1113	N|N	0.08118|0.08118	0|0	0.47862|0.47862	D|D	0.999534|0.999534	B;B|.	0.34290|.	0.447;0.447|.	B;B|.	0.37451|.	0.25;0.168|.	T|T	0.32348|0.32348	-0.9910|-0.9910	9|7	0.72032|0.33141	D|T	0.01|0.24	-2.4778|-2.4778	14.1269|14.1269	0.65228|0.65228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	930;930|.	Q6P0P0;Q96DN6|.	.;MBD6_HUMAN|.	L|S	930|393	.|.	ENSP00000347896:P930L|ENSP00000300263:P393S	P|P	+|+	2|1	0|0	MBD6|MBD6	56208579|56208579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.599000|3.599000	0.54045|0.54045	2.810000|2.810000	0.96702|0.96702	0.645000|0.645000	0.84053|0.84053	CCC|CCC		0.577	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			T	57922312	C	T	57922312	3	4	150	1	0	0	0	0	1	0	0	0	9348	623	22	3	2819	3	MBD6	12	57922312	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	36189012	57922312	75929583	75	10305											
ZFC3H1	196441	broad.mit.edu	37	chr12	72025622	72025622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggacatggcttcacttccaTtgttttactttgtgctgtga	7	17	9	8	0	1	1	1	1	0	0	2	2	2	2	1	2	2	3	1	2	1	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:72025622T>C	ENST00000378743.3	-	16	3764	c.3406A>G	c.(3406-3408)Atg>Gtg	p.M1136V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1136					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACTTCCATTGTTTTACTT	0.358																																						uc001swo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3406-3408)Atg>Gtg		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							102	94	96					12																	72025622		1818	4082	5900	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72025622T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3406A>G	12.37:g.72025622T>C	ENSP00000368017:p.Met1136Val						p.M1136V	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			15	3765	-			1136					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3406A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	8.856	0.945788	0.18356	.	.	ENSG00000133858	ENST00000378743	T	0.28255	1.62	5.58	0.437	0.16555	.	0.292022	0.33553	N	0.004793	T	0.11965	0.0291	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14868	-1.0457	10	0.21014	T	0.42	.	5.797	0.18392	0.111:0.2579:0.0:0.631	.	1136	O60293	ZC3H1_HUMAN	V	1136	ENSP00000368017:M1136V	ENSP00000368017:M1136V	M	-	1	0	ZFC3H1	70311889	0.964000	0.33143	0.992000	0.48379	0.820000	0.46376	0.385000	0.20685	-0.086000	0.12550	-0.480000	0.04831	ATG		0.358	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		C	72025622	T	C	72025622	3	2	150	1	0	0	0	0	1	0	0	0	17630	1493	52	4	2643	4	ZFC3H1	12	72025622	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	14103310	72025622	61826273	76	10306											
SSH1	54434	broad.mit.edu	37	chr12	109212060	109212060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaacgcagaaggttgaTcatcacctgaagatgttgag	12	10	11	8	2	2	5	2	3	0	2	3	5	2	5	1	1	1	4	1	1	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109212060T>A	ENST00000326495.5	-	4	337	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	SSH1_ENST00000326470.5_Missense_Mutation_p.I93F|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000551165.1_Missense_Mutation_p.I82F|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	82					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGGTTGATCATCACCTGA	0.383																																						uc001tnm.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(244-246)Atc>Ttc		Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.							98	99	99					12																	109212060		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109212060T>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.244A>T	12.37:g.109212060T>A	ENSP00000315713:p.Ile82Phe					SSH1_uc010sxg.2_Missense_Mutation_p.I93F|SSH1_uc001tnn.4_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	p.I82F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			3	331	-			82					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.244A>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521164	0.44866	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.79	5.79	0.91817	.	0.167888	0.53938	D	0.000042	T	0.15305	0.0369	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.17038	0.006;0.013;0.02	B;B;B	0.20384	0.029;0.025;0.023	T	0.15549	-1.0433	10	0.02654	T	1	-37.2363	15.2992	0.73933	0.0:0.0:0.0:1.0	.	93;82;82	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	F	82;82;93;66	ENSP00000315713:I82F;ENSP00000448824:I82F;ENSP00000326107:I93F;ENSP00000446652:I66F	ENSP00000326107:I93F	I	-	1	0	SSH1	107736189	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.884000	0.63135	2.205000	0.71048	0.528000	0.53228	ATC		0.383	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109212060	T	A	109212060	3	1	150	1	0	0	0	0	1	0	0	0	15183	1435	50	5	3139	5	SSH1	12	109212060	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	37186438	109212060	24639835	77	10307											
ACACB	32	broad.mit.edu	37	chr12	109639415	109639415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgttcaggaaagaggccGggtgaagtacatcaagcgtc	13	6	14	8	3	2	2	2	1	0	1	3	4	2	3	1	3	3	2	1	3	5	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109639415G>A	ENST00000338432.7	+	19	2941	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ACACB_ENST00000377854.5_Missense_Mutation_p.R941Q|ACACB_ENST00000377848.3_Missense_Mutation_p.R941Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	941	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAAAGAGGCCGGGTGAAGTAC	0.542																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2821-2823)cGg>cAg		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						141	124	130					12																	109639415		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109639415G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2822G>A	12.37:g.109639415G>A	ENSP00000341044:p.Arg941Gln					ACACB_uc001toc.3_Missense_Mutation_p.R941Q	p.R941Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			18	2941	+			941			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2822G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528710	0.44969	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.57273	0.41;0.41;0.41	5.52	-1.22	0.09494	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.308394	0.36002	N	0.002854	T	0.35653	0.0939	L	0.39633	1.23	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.03139	-1.1068	10	0.38643	T	0.18	.	5.6262	0.17485	0.4665:0.0:0.323:0.2105	.	941	O00763	ACACB_HUMAN	Q	941;941;941;172	ENSP00000341044:R941Q;ENSP00000367079:R941Q;ENSP00000367085:R941Q	ENSP00000341044:R941Q	R	+	2	0	ACACB	108123798	0.723000	0.28027	0.816000	0.32577	0.987000	0.75469	1.479000	0.35453	-0.573000	0.05998	0.655000	0.94253	CGG		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109639415	G	A	109639415	3	1	150	1	0	0	0	0	1	0	0	0	107	1116	39	2	2892	2	ACACB	12	109639415	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	427355	109639415	24212480	78	10308											
CUX2	23316	broad.mit.edu	37	chr12	111772383	111772383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagggccgctccagctcctCgttgagcgggaagatgtact	8	8	14	11	3	0	3	0	1	0	2	3	4	2	4	3	2	3	4	3	2	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:111772383C>T	ENST00000261726.6	+	19	3219	c.3065C>T	c.(3064-3066)tCg>tTg	p.S1022L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1022					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGCTCCTCGTTGAGCGGG	0.647																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3064-3066)tCg>tTg		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							31	37	35					12																	111772383		2045	4187	6232	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111772383C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3065C>T	12.37:g.111772383C>T	ENSP00000261726:p.Ser1022Leu						p.S1022L	NM_015267	NP_056082	O14529	CUX2_HUMAN			18	3219	+			1022					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3065C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389149	0.11581	.	.	ENSG00000111249	ENST00000261726	T	0.49139	0.79	5.09	2.22	0.28083	Lambda repressor-like, DNA-binding (1);	0.580567	0.16933	N	0.193569	T	0.31104	0.0786	L	0.27053	0.805	0.25309	N	0.989213	B	0.19706	0.038	B	0.11329	0.006	T	0.18241	-1.0343	10	0.48119	T	0.1	-4.8965	6.8792	0.24163	0.142:0.7028:0.0:0.1552	.	1022	O14529	CUX2_HUMAN	L	1022	ENSP00000261726:S1022L	ENSP00000261726:S1022L	S	+	2	0	CUX2	110256766	0.000000	0.05858	0.056000	0.19401	0.038000	0.13279	1.001000	0.29783	0.247000	0.21414	-0.136000	0.14681	TCG		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		T	111772383	C	T	111772383	3	4	150	1	0	0	0	0	1	0	0	0	4065	893	31	2	3139	2	CUX2	12	111772383	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	2132968	111772383	22079512	79	10309											
PITPNM2	57605	broad.mit.edu	37	chr12	123481392	123481393	+	Frame_Shift_Ins	INS	-	-	C																															ggtggccagcagggggagggINScagccaggggaatgtggtcc																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:123481392_123481393insC	ENST00000542749.1	-	10	1600_1601	c.1537_1538insG	c.(1537-1539)gccfs	p.A513fs	PITPNM2_ENST00000320201.4_Frame_Shift_Ins_p.A513fs|PITPNM2_ENST00000392428.1_Frame_Shift_Ins_p.A234fs|PITPNM2_ENST00000280562.5_Frame_Shift_Ins_p.A513fs			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	513					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGGGGAGGGCAGCCAGGGGA	0.639																																						uc001uej.1																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1537-1539)gccfs		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.																																				SO:0001589	frameshift_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481392_123481393insC	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1538dupG	12.37:g.123481393_123481393dupC	ENSP00000437611:p.Ala513fs					PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs	p.A513fs	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1736_1737	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		513					Q9P271	Frame_Shift_Ins	INS	ENST00000542749.1	37	c.1537_1538insG	CCDS9242.1																																																																																				0.639	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		C	123481393	-	C	123481392	7	5	150	1	0	1	1	0	0	0	0	0	11951	1203	42	0	2571	0	PITPNM2	12	123481392	Frame_Shift_Ins	INS	-	TCGA-16-1045-01B-01W-0611-08	11709009	123481392	10370503	80	10310											
DNAH10	196385	broad.mit.edu	37	chr12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtctttcttcctaggccGtggggaagattttctctggc	5	15	11	10	1	3	1	0	0	3	1	5	2	4	2	2	4	0	0	2	4	2	5	rs368019409		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5599-5601)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.		G	MET/VAL	0,4140		0,0,2070	84	87	86		5599	3.9	0.1	12		86	2,8458		0,2,4228	no	missense	DNAH10	NM_207437.3	21	0,2,6298	AA,AG,GG		0.0236,0.0,0.0159	benign	1867/4472	124333280	2,12598	2070	4230	6300	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124333280G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5599G>A	12.37:g.124333280G>A	ENSP00000386770:p.Val1867Met						p.V1867M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5624	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1867			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5599G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058910	0.01950	0.0	2.36E-4	ENSG00000197653	ENST00000409039	T	0.10005	2.92	5.84	3.92	0.45320	ATPase, AAA+ type, core (1);	0.489978	0.19355	N	0.116292	T	0.02193	0.0068	N	0.00214	-1.84	0.39389	D	0.966384	B	0.32245	0.361	B	0.33890	0.172	T	0.42766	-0.9432	10	0.02654	T	1	.	10.4745	0.44657	0.2295:0.0:0.7705:0.0	.	1867	Q8IVF4	DYH10_HUMAN	M	1867	ENSP00000386770:V1867M	ENSP00000386770:V1867M	V	+	1	0	DNAH10	122899233	0.988000	0.35896	0.072000	0.20136	0.665000	0.39181	2.013000	0.40942	0.713000	0.32060	0.561000	0.74099	GTG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124333280	G	A	124333280	3	1	150	1	0	0	0	0	1	0	0	0	4598	1145	40	1	5729	1	DNAH10	12	124333280	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	851888	124333280	9518615	81	10311											
RIMBP2	23504	broad.mit.edu	37	chr12	130935764	130935764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcagatctgcatcttgcGctaccggatctcgacaggaa	10	9	10	12	3	4	1	1	0	3	1	5	5	4	3	1	2	3	2	1	2	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:130935764G>A	ENST00000261655.4	-	5	592	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_ENST00000536002.1_Silent_p.S51S|RIMBP2_ENST00000535703.1_Silent_p.S51S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	143					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S143S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637																																						uc001uil.2																			1	Substitution - coding silent(1)	p.S143S(2)|p.G142S(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(427-429)agC>agT		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							66	61	63					12																	130935764		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130935764G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.429C>T	12.37:g.130935764G>A						RIMBP2_uc001uim.3_Silent_p.S51S	p.S143S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	4	645	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	143					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.429C>T	CCDS31925.1																																																																																				0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130935764	G	A	130935764	2	1	150	1	0	0	0	0	0	0	0	1	13363	1078	38	1		1	RIMBP2	12	130935764	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	6602484	130935764	2916131	82	10312											
GPR133	283383	broad.mit.edu	37	chr12	131620612	131620612	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagtggccgtgctgctGcccatcctgggtacctcgtg	5	9	14	13	2	0	0	0	0	0	0	2	0	1	0	4	3	4	4	4	3	2	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:131620612G>C	ENST00000261654.5	+	22	2857	c.2298G>C	c.(2296-2298)ctG>ctC	p.L766L	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Silent_p.L452L|GPR133_ENST00000543617.1_Silent_p.L285L|GPR133_ENST00000535015.1_Silent_p.L798L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	766					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTGCTGCCCATCCTGG	0.592																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2392-2394)ctG>ctC		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							231	148	176					12																	131620612		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131620612G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2298G>C	12.37:g.131620612G>C						GPR133_uc001uit.4_Silent_p.L766L|GPR133_uc009zyo.3_Silent_p.L48L|GPR133_uc009zyp.3_Non-coding_Transcript	p.L798L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	22	2953	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		766					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2394G>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	6.946	0.544410	0.13312	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.6	3.7	0.42460	.	.	.	.	.	T	0.60130	0.2245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56195	-0.8019	4	.	.	.	.	10.1507	0.42791	0.0996:0.0:0.9004:0.0	.	.	.	.	S	120	.	.	C	+	2	0	GPR133	130186565	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.529000	0.35996	0.903000	0.36546	0.491000	0.48974	TGC		0.592	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		C	131620612	G	C	131620612	2	2	150	1	0	0	0	0	0	0	0	1	6643	1306	46	5		5	GPR133	12	131620612	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	684848	131620612	2231283	83	10313											
ZNF140	7699	broad.mit.edu	37	chr12	133682985	133682985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatgcatcccttattcaAcatacgaagagtcacactgg	12	10	8	11	1	2	1	2	0	0	1	3	2	3	1	1	2	3	2	1	2	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:133682985A>G	ENST00000355557.2	+	5	2405	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	ZNF140_ENST00000544426.1_Silent_p.Q271Q|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTTATTCAACATACGAAGA	0.408																																						uc001ulo.3																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1120-1122)caA>caG		Homo sapiens zinc finger protein 140 (ZNF140), mRNA.							114	110	111					12																	133682985		2203	4300	6503	SO:0001819	synonymous_variant	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133682985A>G	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"Zinc fingers, C2H2-type", "-"	12925	protein-coding gene	gene with protein product		604082	"zinc finger protein 140 (clone pHZ-39)"			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1122A>G	12.37:g.133682985A>G						ZNF140_uc001ulp.3_Silent_p.Q271Q|ZNF140_uc010tbu.2_Silent_p.Q271Q	p.Q374Q	NM_003440	NP_003431	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1792	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	374					D3DXJ3|Q05CP6|Q8IV75	Silent	SNP	ENST00000355557.2	37	c.1122A>G	CCDS9282.1																																																																																				0.408	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		G	133682985	A	G	133682985	2	3	150	1	0	0	0	0	0	0	0	1	17726	40	2	4		4	ZNF140	12	133682985	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	2062373	133682985	168910	84	10314											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118859	68118859	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcaccgaacacccgaCgccaagtacacgcagcccga	12	2	8	19	6	0	0	0	0	0	0	1	3	0	0	4	0	3	3	4	0	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:68118859C>T	ENST00000380035.2	+	2	751	c.693C>T	c.(691-693)gaC>gaT	p.D231D	SKOR1_ENST00000554240.1_Silent_p.D192D|SKOR1_ENST00000389002.1_Silent_p.D222D|SKOR1_ENST00000554054.1_Silent_p.D203D|SKOR1_ENST00000341418.5_Silent_p.D417D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	231					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.D231D(1)|p.D222D(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GAACACCCGACGCCAAGTACA	0.572																																						uc002aqy.1																			2	Substitution - coding silent(2)	p.D222D(2)|p.D231D(1)	endometrium(2)	endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(664-666)gaC>gaT		Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.							109	87	94					15																	68118859		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118859C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.693C>T	15.37:g.68118859C>T							p.D222D	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			1	666	+			231					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.666C>T																																																																																					0.572	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68118859	C	T	68118859	2	4	150	1	0	0	0	0	0	0	0	1	8655	535	19	1		1	LBXCOR1	15	68118859	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08		68118859	34412533	85	10315											
C15orf32	145858	broad.mit.edu	37	chr15	93015653	93015653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgccaaagctcacgagTggatggtttgatgctgaagc	12	9	13	7	1	1	3	1	2	0	1	1	5	1	4	1	2	4	3	1	2	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:93015653T>C	ENST00000333334.2	+	1	770	c.275T>C	c.(274-276)gTg>gCg	p.V92A	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Missense_Mutation_p.V92A	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	92										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			agctcacgagtggATGGTTTG	0.413																																						uc002brc.1																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12						c.(274-276)gTg>gCg		Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.							69	72	71					15																	93015653		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93015653T>C		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.275T>C	15.37:g.93015653T>C	ENSP00000330267:p.Val92Ala					C15orf32_uc010bod.1_Non-coding_Transcript	p.V92A	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		0	747	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		92					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.275T>C	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	T	5.620	0.299135	0.10622	.	.	ENSG00000183643	ENST00000333334	T	0.54866	0.55	2.42	-0.897	0.10553	.	.	.	.	.	T	0.29914	0.0748	N	0.14661	0.345	0.09310	N	1	P	0.35507	0.506	B	0.32980	0.156	T	0.17410	-1.0370	9	0.87932	D	0	.	5.3949	0.16263	0.0:0.508:0.0:0.492	.	92	Q32M92	CO032_HUMAN	A	92	ENSP00000330267:V92A	ENSP00000330267:V92A	V	+	2	0	C15orf32	90816657	0.006000	0.16342	0.001000	0.08648	0.003000	0.03518	-0.157000	0.10085	-0.213000	0.10094	0.533000	0.62120	GTG		0.413	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		C	93015653	T	C	93015653	3	2	150	1	0	0	0	0	1	0	0	0	1790	1696	59	4	277	4	C15orf32	15	93015653	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	24896794	93015653	9515739	86	10316											
UNKL	64718	broad.mit.edu	37	chr16	1449391	1449391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtactggaaccgccGggggttgcgccgcctgtccc	4	8	13	16	4	1	0	1	0	0	0	2	1	2	1	6	3	3	2	6	3	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:1449391G>A	ENST00000389221.4	-	5	717	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	UNKL_ENST00000301712.5_Missense_Mutation_p.R240W|UNKL_ENST00000508903.2_Missense_Mutation_p.R240W|UNKL_ENST00000503648.1_5'Flank|UNKL_ENST00000397462.1_Missense_Mutation_p.R343W	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	240					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGGAACCGCCGGGGGTTGCGC	0.701																																						uc010brn.2																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(718-720)Cgg>Tgg		Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.							26	24	25					16																	1449391		2194	4300	6494	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1449391G>A	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.718C>T	16.37:g.1449391G>A	ENSP00000373873:p.Arg240Trp					UNKL_uc002clq.3_Missense_Mutation_p.R240W	p.R240W	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN			4	731	-		Hepatocellular(780;0.0893)	240					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.718C>T	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772849	0.49680	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.68331	-0.32	4.22	-7.1	0.01547	.	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.88450	2.955	0.42406	D	0.99258	D	0.89917	1.0	D	0.70016	0.967	D	0.84709	0.0733	10	0.87932	D	0	.	15.8153	0.78595	0.0:0.0:0.2488:0.7512	.	240	Q9H9P5-5	.	W	240;240;343;240	ENSP00000373873:R240W	ENSP00000301712:R240W	R	-	1	2	UNKL	1389392	0.041000	0.20044	0.016000	0.15963	0.530000	0.34684	0.194000	0.17135	-0.737000	0.04824	0.561000	0.74099	CGG		0.701	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		A	1449391	G	A	1449391	3	1	150	1	0	0	0	0	1	0	0	0	16998	1115	39	2	838	2	UNKL	16	1449391	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		1449391	88905362	87	10317											
FBXO31	79791	broad.mit.edu	37	chr16	87368933	87368933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttggtgcccctggcacGccggccgtggaagctgagca	6	7	15	13	3	1	1	0	1	1	0	1	3	1	2	4	4	3	3	4	4	1	1	rs202184616		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:87368933G>A	ENST00000311635.7	-	7	985	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	325					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCTGGCACGCCGGCCGTGG	0.662													G|||	1	0.000199681	0	0.0014	5008	,	,		15403	0		0	False		,,,				2504	0					uc002fjw.3																			0		p.F324F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(973-975)Cgt>Tgt		Homo sapiens F-box protein 31 (FBXO31), mRNA.							59	57	58					16																	87368933		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87368933G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.973C>T	16.37:g.87368933G>A	ENSP00000310841:p.Arg325Cys					FBXO31_uc010vot.2_Missense_Mutation_p.R153C|FBXO31_uc002fjv.3_Missense_Mutation_p.R217C	p.R325C	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	6	1017	-			325					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.973C>T	CCDS32501.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.60	1.987852	0.35036	.	.	ENSG00000103264	ENST00000311635	T	0.67865	-0.29	4.92	-3.4	0.04853	.	1.601350	0.02769	N	0.119447	T	0.35998	0.0951	N	0.02802	-0.49	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.06405	0.001;0.002	T	0.11767	-1.0574	10	0.35671	T	0.21	-1.4124	0.999	0.01473	0.3684:0.1011:0.1685:0.362	.	325;217	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	C	325	ENSP00000310841:R325C	ENSP00000310841:R325C	R	-	1	0	FBXO31	85926434	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.743000	0.26231	-0.403000	0.07622	0.561000	0.74099	CGT		0.662	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		A	87368933	G	A	87368933	3	1	150	1	0	0	0	0	1	0	0	0	5741	1087	38	1	658	1	FBXO31	16	87368933	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	85919542	87368933	2985820	88	10318											
OR1G1	8390	broad.mit.edu	37	chr17	3029921	3029921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactaaggggaatgaatttTccgaacccagattaactttc	13	11	7	10	1	0	2	0	1	0	1	2	4	1	3	3	2	2	0	3	2	5	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:3029921T>C	ENST00000328890.2	-	1	954	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	309					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAATGAATTTTCCGAACCCAG	0.428																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(925-927)Aaa>Gaa		Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.							70	66	67					17																	3029921		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3029921T>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.925A>G	17.37:g.3029921T>C	ENSP00000331545:p.Lys309Glu						p.K309E	NM_003555	NP_003546	P47890	OR1G1_HUMAN			0	925	-			309					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.925A>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	T	9.252	1.041035	0.19669	.	.	ENSG00000183024	ENST00000328890	T	0.40225	1.04	3.91	3.91	0.45181	.	.	.	.	.	T	0.30293	0.0760	L	0.39898	1.24	0.09310	N	1	P	0.43477	0.808	B	0.35607	0.206	T	0.07347	-1.0777	9	0.23891	T	0.37	.	11.1498	0.48451	0.0:0.0:0.0:1.0	.	309	P47890	OR1G1_HUMAN	E	309	ENSP00000331545:K309E	ENSP00000331545:K309E	K	-	1	0	OR1G1	2976671	.	.	0.195000	0.23364	0.028000	0.11728	.	.	1.800000	0.52685	0.427000	0.28365	AAA		0.428	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			C	3029921	T	C	3029921	3	2	150	1	0	0	0	0	1	0	0	0	10957	1792	62	4	20	4	OR1G1	17	3029921	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08		3029921	78165289	89	10319											
SLC6A4	6532	broad.mit.edu	37	chr17	28545202	28545202	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtcctcggagaagtaaTtggtgcagttgccagtgttc	7	14	13	7	1	0	1	0	0	0	1	3	2	1	1	2	2	2	5	2	2	2	5	rs184149069		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:28545202T>G	ENST00000401766.2	-	4	1144	c.632A>C	c.(631-633)aAt>aCt	p.N211T	SLC6A4_ENST00000261707.3_Missense_Mutation_p.N211T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	211					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GGAGAAGTAATTGGTGCAGTT	0.542																																						uc002hey.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(631-633)aAt>aCt		Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						238	207	217					17																	28545202		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28545202T>G	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.632A>C	17.37:g.28545202T>G	ENSP00000385822:p.Asn211Thr						p.N211T	NM_001045	NP_001036	P31645	SC6A4_HUMAN			4	1176	-			211					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.632A>C	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262388	0.39995	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.74632	-0.86;-0.86	6.17	6.17	0.99709	.	0.092812	0.85682	D	0.000000	T	0.64046	0.2563	L	0.31120	0.905	0.42217	D	0.99183	B	0.06786	0.001	B	0.12837	0.008	T	0.59632	-0.7418	10	0.37606	T	0.19	.	13.0997	0.59212	0.0:0.0:0.1331:0.8669	.	211	P31645	SC6A4_HUMAN	T	253;211;211	ENSP00000385822:N211T;ENSP00000261707:N211T	ENSP00000261707:N211T	N	-	2	0	SLC6A4	25569328	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.767000	0.38501	2.371000	0.80710	0.533000	0.62120	AAT		0.542	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		G	28545202	T	G	28545202	3	3	150	1	0	0	0	0	1	0	0	0	14686	1493	52	5	1304	5	SLC6A4	17	28545202	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	25515281	28545202	52650008	90	10320											
ZNHIT3	9326	broad.mit.edu	37	chr17	34851065	34851065	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttcttgttaatttttAggggaatctgcaacattaag	10	20	7	4	0	2	0	0	0	2	0	2	1	2	1	0	2	2	2	0	2	5	9			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:34851065A>G	ENST00000225410.4	+	5	351		c.e5-1		ZNHIT3_ENST00000490126.2_Splice_Site|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000592616.1_Intron	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GTTAATTTTTAGGGGAATCTG	0.403																																					Pancreas(89;112 2361 26810)	uc002hms.1																			0				lung(1)|pancreas(1)|prostate(1)	3						c.e5-2		Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.							96	93	94					17																	34851065		2203	4300	6503	SO:0001630	splice_region_variant	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34851065A>G	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"Zinc fingers, HIT-type"	12309	protein-coding gene	gene with protein product		604500	"thyroid hormone receptor interactor 3", "zinc finger, HIT type 3"	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.287-1A>G	17.37:g.34851065A>G						ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Intron	p.G96_splice	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	5	358	+		Breast(25;0.00957)|Ovarian(249;0.17)	96					A8K493|K7EQP1|Q8WVJ3	Splice_Site	SNP	ENST00000225410.4	37	c.287_splice	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698086	0.48307	.	.	ENSG00000108278	ENST00000225410	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNHIT3	31925178	1.000000	0.71417	0.973000	0.42090	0.335000	0.28730	7.295000	0.78780	2.371000	0.80710	0.533000	0.62120	.		0.403	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773	Intron	G	34851065	A	G	34851065	5	3	150	1	0	0	0	0	0	0	1	0	18205	434	15	4	303	4	ZNHIT3	17	34851065	Splice_Site	SNP	A	TCGA-16-1045-01B-01W-0611-08	6305863	34851065	46344145	91	10321											
TNS4	84951	broad.mit.edu	37	chr17	38652473	38652473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctccacctgtggggCttgctggagtcggccagggg	3	10	17	11	1	0	0	0	0	0	0	2	1	1	1	4	7	1	2	4	7	0	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:38652473C>T	ENST00000254051.6	-	2	363	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	69					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTGTGGGGCTTGCTGGAGT	0.652																																						uc010cxb.3																			0		p.A69V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(205-207)Gcc>Acc		Homo sapiens tensin 4 (TNS4), mRNA.							38	41	40					17																	38652473		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38652473C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.205G>A	17.37:g.38652473C>T	ENSP00000254051:p.Ala69Thr						p.A69T	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		1	369	-		Breast(137;0.000496)	69					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.205G>A	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486702	0.26686	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19394	2.15	5.43	2.14	0.27477	.	3.877480	0.00589	N	0.000349	T	0.16642	0.0400	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.17501	-1.0367	10	0.26408	T	0.33	-6.7322	4.6967	0.12808	0.1702:0.651:0.0:0.1788	.	69	Q8IZW8	TENS4_HUMAN	T	69	ENSP00000254051:A69T	ENSP00000254051:A69T	A	-	1	0	TNS4	35905999	0.000000	0.05858	0.585000	0.28666	0.280000	0.26924	-0.645000	0.05409	0.645000	0.30675	0.637000	0.83480	GCC		0.652	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38652473	C	T	38652473	3	4	150	1	0	0	0	0	1	0	0	0	16342	797	28	3	1990	3	TNS4	17	38652473	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	3801408	38652473	42542737	92	10322											
MRC2	9902	broad.mit.edu	37	chr17	60758249	60758249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcagcgcatctgcacGtggttccaggccgagctgac	7	6	14	14	4	1	1	0	1	1	0	2	2	2	1	2	3	3	5	2	3	0	1	rs150592174		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:60758249G>A	ENST00000303375.5	+	17	2964	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	854	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCATCTGCACGTGGTTCCAGG	0.637																																						uc002jad.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2560-2562)acG>acA		Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	27	26	26		2562	-3.9	1	17	dbSNP_134	26	0,8600		0,0,4300	no	coding-synonymous	MRC2	NM_006039.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		854/1480	60758249	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60758249G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2562G>A	17.37:g.60758249G>A						MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	p.T854T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			16	2964	+			854			C-type lectin 5.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2562G>A	CCDS11634.1																																																																																				0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			A	60758249	G	A	60758249	2	1	150	1	0	0	0	0	0	0	0	1	9758	1132	40	1		1	MRC2	17	60758249	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	22105776	60758249	20436961	93	10323											
ZNF521	25925	broad.mit.edu	37	chr18	22806841	22806841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggaggtatagcccaccgtGaccagggaagggctgttgct	9	7	15	10	2	0	1	0	1	0	0	0	3	0	3	3	4	2	4	3	4	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr18:22806841G>A	ENST00000361524.3	-	4	1189	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ZNF521_ENST00000538137.2_Silent_p.V347V|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.V127V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	347					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCCCACCGTGACCAGGGAAG	0.542			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1039-1041)gtC>gtT		Homo sapiens zinc finger protein 521 (ZNF521), mRNA.							98	89	92					18																	22806841		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806841G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1041C>T	18.37:g.22806841G>A						ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.V347V|ZNF521_uc002kvl.2_Silent_p.V127V	p.V347V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			3	1288	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		347					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1041C>T	CCDS32806.1																																																																																				0.542	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		A	22806841	G	A	22806841	2	1	150	1	0	0	0	0	0	0	0	1	17962	1277	45	3		3	ZNF521	18	22806841	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		22806841	55270407	94	10324											
TMPRSS9	360200	broad.mit.edu	37	chr19	2421886	2421886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctggcctgcgaggaggCccctggcgtgttttatctgg	3	10	14	14	2	1	0	0	0	1	0	1	2	1	1	5	5	1	1	5	5	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:2421886C>G	ENST00000332578.3	+	13	2087	c.2087C>G	c.(2086-2088)gCc>gGc	p.A696G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	696	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGAGGAGGCCCCTGGCGTG	0.617																																						uc010xgx.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2086-2088)gCc>gGc		Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.							57	61	60					19																	2421886		2203	4299	6502	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2421886C>G	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2087C>G	19.37:g.2421886C>G	ENSP00000330264:p.Ala696Gly						p.A696G	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2087	+			696			Peptidase S1 2.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2087C>G	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695009	0.48202	.	.	ENSG00000178297	ENST00000332578	D	0.87729	-2.29	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.529637	0.17970	N	0.155914	T	0.74943	0.3783	N	0.04275	-0.24	0.26431	N	0.975939	B	0.29862	0.259	B	0.36608	0.229	T	0.65780	-0.6085	10	0.25751	T	0.34	.	11.6191	0.51106	0.0:0.8194:0.1806:0.0	.	696	Q7Z410	TMPS9_HUMAN	G	696	ENSP00000330264:A696G	ENSP00000330264:A696G	A	+	2	0	TMPRSS9	2372886	0.002000	0.14202	0.799000	0.32177	0.652000	0.38707	1.068000	0.30629	2.006000	0.58801	0.561000	0.74099	GCC		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		G	2421886	C	G	2421886	3	3	150	1	0	0	0	0	1	0	0	0	16250	739	26	5	2137	5	TMPRSS9	19	2421886	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		2421886	56707097	95	10325											
HOOK2	29911	broad.mit.edu	37	chr19	12876795	12876795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgcaggtcctccacctgGgcccgcagctcggatagctg	5	9	12	15	2	1	0	0	0	1	0	4	1	3	1	4	3	3	4	4	3	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:12876795G>A	ENST00000397668.3	-	16	1618	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	HOOK2_ENST00000264827.5_Silent_p.A515A|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	515	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTCCACCTGGGCCCGCAGCT	0.672											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002muy.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1543-1545)gcC>gcT		Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.							52	60	57					19																	12876795		1987	4153	6140	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12876795G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1545C>T	19.37:g.12876795G>A			OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_uc002muz.2_Silent_p.A515A	p.A515A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			15	1716	-			515			Sufficient for interaction with microtubules.		O60562	Silent	SNP	ENST00000397668.3	37	c.1545C>T	CCDS42508.1																																																																																				0.672	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12876795	G	A	12876795	2	1	150	1	0	0	0	0	0	0	0	1	7283	1219	43	3		3	HOOK2	19	12876795	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	10454909	12876795	46252188	96	10326											
RYR1	6261	broad.mit.edu	37	chr19	38954119	38954119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggcggagaacatccaCgagctctgggcgctaacccg	10	5	13	13	4	1	1	0	0	1	1	2	3	2	1	2	3	4	3	2	3	3	1	rs202233201	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:38954119C>T	ENST00000359596.3	+	21	2634	c.2634C>T	c.(2632-2634)caC>caT	p.H878H	RYR1_ENST00000360985.3_Silent_p.H878H|RYR1_ENST00000355481.4_Silent_p.H878H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	878	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGAACATCCACGAGCTCTGGG	0.662													C|||	3	0.000599042	0.0015	0	5008	,	,		13617	0.001		0	False		,,,				2504	0					uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2632-2634)caC>caT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)	C	,	3,4403	6.2+/-15.9	0,3,2200	36	36	36		2634,2634	-0.4	1	19		36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	878/5039,878/5034	38954119	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38954119C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2634C>T	19.37:g.38954119C>T						RYR1_uc002oiu.3_Silent_p.H878H	p.H878H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2764	+	all_cancers(60;7.91e-06)		878			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2634C>T	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38954119	C	T	38954119	2	4	150	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38954119	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	26077324	38954119	20174864	97	10327											
SLC6A16	28968	broad.mit.edu	37	chr19	49812323	49812323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctatgcctgtgttagacaAaacttgaccccctgctagag	10	10	9	12	0	0	3	0	1	0	2	0	3	0	3	4	0	3	2	4	0	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:49812323A>T	ENST00000335875.4	-	7	1280	c.1039T>A	c.(1039-1041)Ttg>Atg	p.L347M	SLC6A16_ENST00000454748.3_Missense_Mutation_p.L347M|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	347					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTGTTAGACAAAACTTGACCC	0.478																																						uc002pmz.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1039-1041)Ttg>Atg		Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.							172	160	164					19																	49812323		2015	4159	6174	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812323A>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1039T>A	19.37:g.49812323A>T	ENSP00000338627:p.Leu347Met					SLC6A16_uc002pna.3_Missense_Mutation_p.L347M|MIR4324_uc021uxj.1_5'Flank	p.L347M	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	6	1273	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	347					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1039T>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146529	0.57044	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75938	-0.98;-0.98	4.38	2.26	0.28386	.	0.258863	0.38111	N	0.001801	T	0.81375	0.4809	M	0.69823	2.125	0.23559	N	0.997417	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.69960	-0.5003	10	0.87932	D	0	.	5.8649	0.18768	0.7402:0.1683:0.0914:0.0	.	347;347	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	M	347	ENSP00000338627:L347M;ENSP00000404022:L347M	ENSP00000338627:L347M	L	-	1	2	SLC6A16	54504135	0.753000	0.28349	0.004000	0.12327	0.004000	0.04260	1.583000	0.36579	0.437000	0.26423	0.459000	0.35465	TTG		0.478	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		T	49812323	A	T	49812323	3	4	150	1	0	0	0	0	1	0	0	0	14679	11	1	5	1195	5	SLC6A16	19	49812323	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	10858204	49812323	9316660	98	10328											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630344	51630344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagggccagtctctgcGcctggtctgtgcagttgatg	5	10	14	12	1	2	2	0	1	2	1	3	2	2	2	3	2	2	2	3	2	0	1	rs149764192	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:51630344G>A	ENST00000250360.3	+	4	873	c.806G>A	c.(805-807)cGc>cAc	p.R269H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R269H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	269	Ig-like C2-type 2.			R -> H (in Ref. 2; AAF87223). {ECO:0000305}.	cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGTCTCTGCGCCTGGTCTGT	0.562																																						uc010yct.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(805-807)cGc>cAc		Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	105	102	103		806,806	1.1	0	19	dbSNP_134	103	2,8598		0,2,4298	yes	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	269/480,269/464	51630344	2,13004	2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630344G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.806G>A	19.37:g.51630344G>A	ENSP00000250360:p.Arg269His					SIGLEC9_uc002pvu.3_Missense_Mutation_p.R269H	p.R269H	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	901	+		all_neural(266;0.0529)	269	R -> H (in Ref. 2; AAF87223).		Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.806G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317356	0.23908	0.0	2.33E-4	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12672	2.66;2.66	2.3	1.12	0.20585	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.194783	0.25523	N	0.030096	T	0.13072	0.0317	M	0.70903	2.155	0.09310	N	1	B	0.33857	0.429	B	0.34242	0.178	T	0.11641	-1.0579	10	0.44086	T	0.13	.	3.424	0.07403	0.2788:0.0:0.7212:0.0	.	269	Q9Y336	SIGL9_HUMAN	H	269	ENSP00000413861:R269H;ENSP00000250360:R269H	ENSP00000250360:R269H	R	+	2	0	SIGLEC9	56322156	0.000000	0.05858	0.006000	0.13384	0.173000	0.22820	-1.415000	0.02469	1.127000	0.42034	0.407000	0.27541	CGC		0.562	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		A	51630344	G	A	51630344	3	1	150	1	0	0	0	0	1	0	0	0	14315	1087	38	1	820	1	SIGLEC9	19	51630344	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	1818021	51630344	7498639	99	10329											
ZNF581	51545	broad.mit.edu	37	chr19	56155985	56155985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctggcattttcctcCgttgagaccatggagggccc	6	10	11	14	1	1	1	0	1	1	1	3	3	3	2	5	3	1	2	5	3	0	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:56155985C>T	ENST00000587252.1	+	2	321	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF581_ENST00000270451.5_Silent_p.S16S|ZNF581_ENST00000588537.1_Silent_p.S16S			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATTTTCCTCCGTTGAGACCA	0.617																																						uc002qln.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(46-48)tcC>tcT		Homo sapiens zinc finger protein 581 (ZNF581), mRNA.							39	35	37					19																	56155985		2203	4300	6503	SO:0001819	synonymous_variant	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56155985C>T	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"Zinc fingers, C2H2-type"	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.48C>T	19.37:g.56155985C>T						ZNF581_uc002qlq.3_Silent_p.S16S|ZNF581_uc021vcb.1_Silent_p.S16S|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	p.S16S	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	321	+		Ovarian(87;0.133)	16					B2RDM6	Silent	SNP	ENST00000587252.1	37	c.48C>T	CCDS12932.1																																																																																				0.617	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535		T	56155985	C	T	56155985	2	4	150	1	0	0	0	0	0	0	0	1	18010	639	23	2		2	ZNF581	19	56155985	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	4525641	56155985	2972998	100	10330											
C20orf194	25943	broad.mit.edu	37	chr20	3274853	3274853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacaggaagatgggtccGcatcacaggctcctggctaa	11	6	12	12	1	1	1	1	0	0	1	3	2	3	2	2	4	1	4	2	4	2	1	rs368275201		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:3274853G>A	ENST00000252032.9	-	25	2237	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	C20orf194_ENST00000453730.2_Missense_Mutation_p.R462W|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	724										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATGGGTCCGCATCACAGGC	0.468																																						uc002wii.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2170-2172)Cgg>Tgg		Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.		G	TRP/ARG	1,3859		0,1,1929	75	70	72		2170	2.3	0.8	20	dbSNP_134	72	0,8306		0,0,4153	no	missense	C20orf194	NM_001009984.1	101	0,1,6082	AA,AG,GG		0.0,0.0259,0.0082	probably-damaging	724/1178	3274853	1,12165	1930	4153	6083	SO:0001583	missense	25943							g.chr20:3274853G>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2170C>T	20.37:g.3274853G>A	ENSP00000252032:p.Arg724Trp					C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	p.R724W	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			24	2221	-			724					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2170C>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798500	0.31777	2.59E-4	0.0	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34072	2.15;1.38	5.61	2.27	0.28462	.	0.361309	0.30285	N	0.009972	T	0.50905	0.1643	L	0.51422	1.61	0.39334	D	0.96547	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	T	0.51164	-0.8740	10	0.72032	D	0.01	.	13.764	0.62983	0.0:0.0:0.4926:0.5074	.	463;724	Q0IIP3;Q5TEA3	.;CT194_HUMAN	W	724;462	ENSP00000252032:R724W;ENSP00000407229:R462W	ENSP00000252032:R724W	R	-	1	2	C20orf194	3222853	0.984000	0.35163	0.776000	0.31678	0.084000	0.17831	0.702000	0.25631	-0.061000	0.13110	-0.808000	0.03180	CGG		0.468	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		A	3274853	G	A	3274853	3	1	150	1	0	0	0	0	1	0	0	0	2099	1086	38	1	1415	1	C20orf194	20	3274853	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		3274853	59750667	101	10331											
SEC23B	10483	broad.mit.edu	37	chr20	18534935	18534935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgagtatgaaaacttCaagcaccttctgcaggcacc	12	8	8	13	1	2	1	1	1	1	0	2	2	2	1	3	1	4	4	3	1	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:18534935C>A	ENST00000336714.3	+	18	2481	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	SEC23B_ENST00000262544.2_Missense_Mutation_p.F683L|SEC23B_ENST00000377465.1_Missense_Mutation_p.F683L|SEC23B_ENST00000377475.3_Missense_Mutation_p.F683L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	683					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGAAAACTTCAAGCACCTTC	0.493																																						uc002wra.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(2047-2049)ttC>ttA		Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.							149	119	129					20																	18534935		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18534935C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2049C>A	20.37:g.18534935C>A	ENSP00000338844:p.Phe683Leu					SEC23B_uc010zsb.2_Missense_Mutation_p.F665L|SEC23B_uc002wrb.2_Missense_Mutation_p.F683L|SEC23B_uc002wqz.2_Missense_Mutation_p.F683L|SEC23B_uc002wrc.2_Missense_Mutation_p.F683L	p.F683L	NM_032985	NP_116781	Q15437	SC23B_HUMAN			17	2510	+			683					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2049C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302725	0.81136	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.69	4.69	0.59074	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.69248	2.105	0.80722	D	1	B;B	0.31125	0.309;0.047	B;B	0.42882	0.401;0.123	T	0.63193	-0.6692	10	0.49607	T	0.09	-20.1812	9.0193	0.36191	0.0:0.8319:0.0:0.1681	.	665;683	B4DJW8;Q15437	.;SC23B_HUMAN	L	683;683;683;683;162	ENSP00000338844:F683L;ENSP00000262544:F683L;ENSP00000366695:F683L;ENSP00000366685:F683L;ENSP00000409882:F162L	ENSP00000262544:F683L	F	+	3	2	SEC23B	18482935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.052000	0.41316	2.588000	0.87417	0.655000	0.94253	TTC		0.493	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			A	18534935	C	A	18534935	3	1	150	1	0	0	0	0	1	0	0	0	13992	825	29	5	2115	5	SEC23B	20	18534935	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	15260082	18534935	44490585	102	10332											
BPI	671	broad.mit.edu	37	chr20	36932754	36932754	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagaagggcctggactaCggtaactggatgcctccctt	8	9	11	13	1	0	1	0	0	0	1	2	3	2	3	4	4	3	1	4	4	3	3	rs369155604		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:36932754C>T	ENST00000262865.4	+	1	230	c.141C>T	c.(139-141)taC>taT	p.Y47Y	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	47					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCTGGACTACGGTAACTGGA	0.607																																						uc002xib.2																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.e1+1		Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	76	56	63		141	-6.7	0.6	20		63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	BPI	NM_001725.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		47/488	36932754	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36932754C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.142+1C>T	20.37:g.36932754C>T							p.A48_splice	NM_001725	NP_001716	P17213	BPI_HUMAN			1	204	+		Myeloproliferative disorder(115;0.00878)	48					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.142_splice	CCDS13303.1																																																																																				0.607	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	Silent	T	36932754	C	T	36932754	5	4	150	1	0	0	0	0	0	0	1	0	1490	550	19	1	143	1	BPI	20	36932754	Splice_Site	SNP	C	TCGA-16-1045-01B-01W-0611-08	18397819	36932754	26092766	103	10333											
SLC9A8	23315	broad.mit.edu	37	chr20	48503378	48503378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcaggaccttaagggcttCgtgtggctggacgccaagta	8	8	15	10	3	0	0	0	0	0	0	1	2	0	2	2	5	0	4	2	5	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:48503378C>T	ENST00000361573.2	+	15	1623	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000417961.1_Silent_p.F543F|SLC9A8_ENST00000539601.1_Silent_p.F308F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	527					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.F527F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627																																						uc002xuv.1																			1	Substitution - coding silent(1)	p.F527F(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1579-1581)ttC>ttT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.							125	99	108					20																	48503378		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48503378C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1581C>T	20.37:g.48503378C>T						SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.3_Silent_p.F151F	p.F527F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		14	1791	+			527					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1581C>T	CCDS13421.1																																																																																				0.627	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		T	48503378	C	T	48503378	2	4	150	1	0	0	0	0	0	0	0	1	14720	883	31	2		2	SLC9A8	20	48503378	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	11570624	48503378	14522142	104	10334											
BRWD1	54014	broad.mit.edu	37	chr21	40571510	40571510	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcaccagtctccaatGaattgttatcagaatcactt	13	14	5	9	0	4	2	3	1	1	1	5	3	4	2	2	0	0	1	2	0	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr21:40571510G>T	ENST00000333229.2	-	40	5159	c.4832C>A	c.(4831-4833)tCa>tAa	p.S1611*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1611*|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.S1611*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1611					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTCTCCAATGAATTGTTATC	0.378											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4831-4833)tCa>tAa		Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.							64	69	67					21																	40571510		2203	4299	6502	SO:0001587	stop_gained	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571510G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4832C>A	21.37:g.40571510G>T	ENSP00000330753:p.Ser1611*		OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	894	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc021wjf.1_Nonsense_Mutation_p.S1611*	p.S1611*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			39	5127	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1611					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	c.4832C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	44	10.669998	0.99447	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	.	.	.	5.19	4.3	0.51218	.	0.421618	0.20169	N	0.097780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4807	12.3004	0.54870	0.0788:0.0:0.9212:0.0	.	.	.	.	X	1611	.	ENSP00000330753:S1611X	S	-	2	0	BRWD1	39493380	1.000000	0.71417	0.662000	0.29724	0.983000	0.72400	3.482000	0.53186	1.187000	0.43000	0.563000	0.77884	TCA		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		T	40571510	G	T	40571510	4	4	150	1	0	0	0	0	0	1	0	0	1525	1294	45	5	2381	5	BRWD1	21	40571510	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		40571510	7558385	105	10335											
CABIN1	23523	broad.mit.edu	37	chr22	24466765	24466765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactaggactccttgctccgGctgaaggactatcggcagtg	8	10	12	11	2	0	1	0	1	0	0	3	3	2	3	2	4	2	3	2	4	4	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:24466765G>A	ENST00000398319.2	+	17	2632	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	CABIN1_ENST00000405822.2_Silent_p.R699R|CABIN1_ENST00000263119.5_Silent_p.R749R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	749					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTTGCTCCGGCTGAAGGACT	0.562																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2245-2247)cgG>cgA		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							127	124	125					22																	24466765		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24466765G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2247G>A	22.37:g.24466765G>A						CABIN1_uc021wnc.1_Silent_p.R699R|CABIN1_uc002zzj.1_Silent_p.R699R|CABIN1_uc002zzl.2_Silent_p.R749R	p.R749R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			16	2374	+			749					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2247G>A	CCDS13823.1																																																																																				0.562	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24466765	G	A	24466765	2	1	150	1	0	0	0	0	0	0	0	1	2528	1190	42	3		3	CABIN1	22	24466765	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		24466765	26837801	106	10336											
RANGAP1	5905	broad.mit.edu	37	chr22	41654011	41654011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaggttgatgacccGcagcagggggttgacagcga	9	8	15	9	2	2	3	2	3	0	0	2	4	2	3	1	3	2	4	1	3	0	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:41654011G>A	ENST00000455915.2	-	6	2184	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	RANGAP1_ENST00000405486.1_Missense_Mutation_p.R239W|RANGAP1_ENST00000356244.3_Missense_Mutation_p.R239W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R184W			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	239					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATGACCCGCAGCAGGGGG	0.627																																						uc003azs.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(715-717)Cgg>Tgg		Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.							84	78	80					22																	41654011		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41654011G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.715C>T	22.37:g.41654011G>A	ENSP00000401470:p.Arg239Trp					RANGAP1_uc003azt.3_Missense_Mutation_p.R239W|RANGAP1_uc003azu.3_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.2_Missense_Mutation_p.R184W	p.R239W	NM_002883	NP_002874	P46060	RAGP1_HUMAN			5	2185	-			239					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.715C>T	CCDS14012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231295|4.231295	0.79688|0.79688	.|.	.|.	ENSG00000100401|ENSG00000100401	ENST00000446258|ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	.|T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.55	5.57|5.57	4.48|4.48	0.54585|0.54585	.|.	.|0.099468	.|0.64402	.|D	.|0.000006	T|T	0.75072|0.75072	0.3800|0.3800	M|M	0.89163|0.89163	3.01|3.01	0.53005|0.53005	D|D	0.999965|0.999965	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.79108	.|0.992;0.841	T|T	0.79843|0.79843	-0.1632|-0.1632	5|10	.|0.87932	.|D	.|0	-19.5035|-19.5035	13.1813|13.1813	0.59655|0.59655	0.0:0.0:0.7243:0.2757|0.0:0.0:0.7243:0.2757	.|.	.|184;239	.|F8W7I9;P46060	.|.;RAGP1_HUMAN	V|W	134|239;239;239;239;184	.|ENSP00000385866:R239W;ENSP00000348577:R239W;ENSP00000401470:R239W;ENSP00000385354:R184W	.|ENSP00000348577:R239W	A|R	-|-	2|1	0|2	RANGAP1|RANGAP1	39983957|39983957	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.561000|0.561000	0.35649|0.35649	2.476000|2.476000	0.45171|0.45171	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		A	41654011	G	A	41654011	3	1	150	1	0	0	0	0	1	0	0	0	13033	1086	38	1	1088	1	RANGAP1	22	41654011	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	17187246	41654011	9650555	107	10337											
OFD1	8481	broad.mit.edu	37	chrX	13786260	13786260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtaatcaagaaataaaaGacaaatctgctcacagtgaa	20	8	7	6	0	3	4	2	2	1	2	3	4	3	4	0	0	1	2	0	0	7	2	rs312262895		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:13786260G>C	ENST00000340096.6	+	21	3172	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	OFD1_ENST00000380550.3_Missense_Mutation_p.D909H|OFD1_ENST00000380567.1_Missense_Mutation_p.D809H|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	949	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358																																						uc004cvp.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2845-2847)Gac>Cac		Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.							36	35	35					X																	13786260		2202	4297	6499	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13786260G>C	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2845G>C	X.37:g.13786260G>C	ENSP00000344314:p.Asp949His					OFD1_uc004cvr.4_Missense_Mutation_p.D479H|OFD1_uc011mil.2_Missense_Mutation_p.D516H|OFD1_uc004cvq.4_Missense_Mutation_p.D772H|OFD1_uc010nen.3_Missense_Mutation_p.D947H|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908H|OFD1_uc004cvv.4_Missense_Mutation_p.D907H	p.D949H	NM_003611	NP_003602	O75665	OFD1_HUMAN			20	3204	+			949			Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.2845G>C	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.269211	0.40095	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96104	-2.3;-3.91;-1.79	4.92	4.03	0.46877	.	0.378186	0.26535	N	0.023833	D	0.95287	0.8471	M	0.62723	1.935	0.09310	N	1	P;P;D;D;P	0.55385	0.899;0.899;0.971;0.971;0.899	P;P;P;P;P	0.53549	0.639;0.639;0.729;0.729;0.639	D	0.89980	0.4100	10	0.59425	D	0.04	-9.4602	9.581	0.39488	0.1683:0.0:0.8317:0.0	.	948;909;617;809;949	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	H	909;949;809	ENSP00000369923:D909H;ENSP00000344314:D949H;ENSP00000369941:D809H	ENSP00000344314:D949H	D	+	1	0	OFD1	13696181	0.972000	0.33761	0.029000	0.17559	0.136000	0.21042	5.184000	0.65070	2.181000	0.69327	0.425000	0.28330	GAC		0.358	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		C	13786260	G	C	13786260	3	2	150	1	0	0	0	0	1	0	0	0	10838	942	33	5	2927	5	OFD1	23	13786260	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		13786260	141484300	108	10338											
HUWE1	10075	broad.mit.edu	37	chrX	53612010	53612010	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccgtgtatcttcttcGgcctgcagtgaatcgcacgc	6	12	11	12	4	2	1	0	1	2	0	4	2	2	2	2	2	1	3	2	2	2	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:53612010G>A	ENST00000342160.3	-	39	5420	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.R1655*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.R1655*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1655	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATCTTCTTCGGCCTGCAGTG	0.502																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4963-4965)Cga>Tga		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							280	199	226					X																	53612010		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53612010G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4963C>T	X.37:g.53612010G>A	ENSP00000340648:p.Arg1655*					HUWE1_uc004dsn.3_Nonsense_Mutation_p.R480*	p.R1655*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			39	5365	-			1655			WWE.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.4963C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.648387|14.648387	0.99804|0.99804	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.442414	.|0.21891	.|N	.|0.067588	T|.	0.44519|.	0.1297|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41233|.	-0.9520|.	3|.	.|0.02654	.|T	.|1	.|.	17.3373|17.3373	0.87285|0.87285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	688|1655	.|.	.|ENSP00000218328:R1655X	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53628735|53628735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.159000|4.159000	0.58157|0.58157	2.361000|2.361000	0.80049|0.80049	0.600000|0.600000	0.82982|0.82982	CCG|CGA		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53612010	G	A	53612010	4	1	150	1	0	0	0	0	0	1	0	0	7461	1124	39	2	8341	2	HUWE1	23	53612010	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	39825750	53612010	101658550	109	10339											
OGT	8473	broad.mit.edu	37	chrX	70777507	70777507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgctgagaggcacggcaaCctgtgcttagataaggtgtg	10	10	14	7	1	0	2	0	1	0	2	0	3	0	2	1	3	3	4	1	3	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:70777507C>A	ENST00000373719.3	+	12	1804	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	OGT_ENST00000373701.3_Missense_Mutation_p.N519K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	529					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGCACGGCAACCTGTGCTTAG	0.368																																						uc004eaa.2																			0		p.L528P(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1585-1587)aaC>aaA		Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.							99	65	76					X																	70777507		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70777507C>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1587C>A	X.37:g.70777507C>A	ENSP00000362824:p.Asn529Lys					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N519K|OGT_uc004eac.3_Missense_Mutation_p.N390K|OGT_uc004ead.3_Missense_Mutation_p.N148K	p.N529K	NM_181672	NP_858058	O15294	OGT1_HUMAN			11	1825	+	Renal(35;0.156)		529					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1587C>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769288	0.31320	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16597	2.33;2.33	5.92	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.84585	2.705	0.80722	D	1	B;P;P	0.47841	0.338;0.901;0.486	B;B;B	0.38985	0.037;0.287;0.203	T	0.17198	-1.0377	10	0.13108	T	0.6	-17.035	10.3407	0.43877	0.0:0.8253:0.0:0.1747	.	403;519;529	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	K	529;519	ENSP00000362824:N529K;ENSP00000362805:N519K	ENSP00000362805:N519K	N	+	3	2	OGT	70694232	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.058000	0.41374	1.227000	0.43598	0.600000	0.82982	AAC		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		A	70777507	C	A	70777507	3	1	150	1	0	0	0	0	1	0	0	0	10847	506	18	5	1633	5	OGT	23	70777507	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	17165497	70777507	84493053	110	10340											
DRP2	1821	broad.mit.edu	37	chrX	100511129	100511129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaggaccagtacctgctgCggcactccagccccatcaca	10	5	9	17	2	1	0	1	0	0	0	2	2	2	1	5	2	4	3	5	2	1	1	rs201693431		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:100511129C>T	ENST00000395209.3	+	21	2796	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	DRP2_ENST00000538510.1_Missense_Mutation_p.R757W|DRP2_ENST00000402866.1_Missense_Mutation_p.R757W|DRP2_ENST00000541709.1_Missense_Mutation_p.R679W	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	757					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTACCTGCTGCGGCACTCCAG	0.582																																						uc004egz.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2269-2271)Cgg>Tgg		Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.							97	87	91					X																	100511129		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100511129C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2269C>T	X.37:g.100511129C>T	ENSP00000378635:p.Arg757Trp					DRP2_uc011mrh.1_Missense_Mutation_p.R679W	p.R757W	NM_001939	NP_001164655	Q13474	DRP2_HUMAN			20	2638	+			757					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2269C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941727	0.73557	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.48	2.33	0.28932	.	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	M	0.73962	2.25	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	D	0.90645	0.4578	10	0.87932	D	0	-19.7436	15.2775	0.73753	0.37:0.63:0.0:0.0	.	757	Q13474	DRP2_HUMAN	W	757;757;679;757	ENSP00000385038:R757W;ENSP00000378635:R757W;ENSP00000444752:R679W;ENSP00000441051:R757W	ENSP00000378635:R757W	R	+	1	2	DRP2	100397785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.034000	0.49751	0.471000	0.27319	0.600000	0.82982	CGG		0.582	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100511129	C	T	100511129	3	4	150	1	0	0	0	0	1	0	0	0	4764	759	27	1	2343	1	DRP2	23	100511129	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	29733622	100511129	54759431	111	10341											
COL4A5	1287	broad.mit.edu	37	chrX	107939578	107939578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacttgaggacacgaattagCcgatgtcaagtgtgcatgaa	13	9	12	7	2	1	2	1	2	0	0	1	6	1	3	1	1	2	1	1	1	4	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:107939578C>T	ENST00000361603.2	+	51	5272	c.5028C>T	c.(5026-5028)agC>agT	p.S1676S	COL4A5_ENST00000328300.6_Silent_p.S1682S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1676	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACGAATTAGCCGATGTCAAG	0.348									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(5044-5046)agC>agT		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							116	102	107					X																	107939578		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107939578C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.5028C>T	X.37:g.107939578C>T						COL4A5_uc004enz.1_Silent_p.S1676S	p.S1682S	NM_033380	NP_203699	P29400	CO4A5_HUMAN			52	5248	+			1676		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.5046C>T	CCDS14543.1																																																																																				0.348	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107939578	C	T	107939578	2	4	150	1	0	0	0	0	0	0	0	1	3694	738	26	3		3	COL4A5	23	107939578	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	7428449	107939578	47330982	112	10342											
LONRF3	79836	broad.mit.edu	37	chrX	118145848	118145848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttgtcccctgcacatcTttgagccttgttaccgcctg	4	15	7	15	1	1	1	0	1	1	0	3	1	3	1	6	0	3	2	6	0	1	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:118145848T>A	ENST00000371628.3	+	8	1754	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	LONRF3_ENST00000422289.2_Missense_Mutation_p.F319I|LONRF3_ENST00000304778.7_Missense_Mutation_p.F534I|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	575	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCACATCTTTGAGCCTTG	0.478																																						uc004eqw.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1723-1725)Ttt>Att		Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.							328	239	269					X																	118145848		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118145848T>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1723T>A	X.37:g.118145848T>A	ENSP00000360690:p.Phe575Ile					LONRF3_uc004eqx.3_Missense_Mutation_p.F534I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.F319I	p.F575I	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			7	1754	+			575			Lon.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1723T>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.6|28.6	4.938125|4.938125	0.92526|0.92526	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.92|5.92	4.73|4.73	0.59995|0.59995	Peptidase S16, lon N-terminal (1);PUA-like domain (1);|.	0.115972|.	0.64402|.	D|.	0.000015|.	T|T	0.81283|0.81283	0.4790|0.4790	M|M	0.93808|0.93808	3.46|3.46	0.49130|0.49130	D|D	0.999755|0.999755	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.997;1.0|.	D|D	0.83794|0.83794	0.0232|0.0232	10|5	0.87932|.	D|.	0|.	-47.0874|-47.0874	10.7276|10.7276	0.46077|0.46077	0.1446:0.0:0.0:0.8554|0.1446:0.0:0.0:0.8554	.|.	319;534;575|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	I|H	534;534;575;319|340	ENSP00000360691:F534I;ENSP00000307732:F534I;ENSP00000360690:F575I;ENSP00000408894:F319I|.	ENSP00000307732:F534I|.	F|L	+|+	1|2	0|0	LONRF3|LONRF3	118029876|118029876	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	8.040000|8.040000	0.89188|0.89188	0.808000|0.808000	0.34231|0.34231	0.481000|0.481000	0.45027|0.45027	TTT|CTT		0.478	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		A	118145848	T	A	118145848	3	1	150	1	0	0	0	0	1	0	0	0	8896	1609	56	5	1753	5	LONRF3	23	118145848	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	10206270	118145848	37124712	113	10343											
FAM70A	55026	broad.mit.edu	37	chrX	119410766	119410766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaaagcctccaaggacagCggcagtgatgatgcccagga	12	6	12	11	1	0	2	0	2	0	0	1	4	1	4	3	3	3	1	3	3	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:119410766C>T	ENST00000309720.5	-	8	844	c.721G>A	c.(721-723)Gct>Act	p.A241T	TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T|TMEM255A_ENST00000371369.4_Missense_Mutation_p.A217T|TMEM255A_ENST00000440464.1_Intron	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	241						integral component of membrane (GO:0016021)											CCAAGGACAGCGGCAGTGATG	0.527																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(721-723)Gct>Act		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							174	127	143					X																	119410766		2203	4300	6503	SO:0001583	missense	55026					integral to membrane		g.chrX:119410766C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.721G>A	X.37:g.119410766C>T	ENSP00000310110:p.Ala241Thr					FAM70A_uc004esp.4_Missense_Mutation_p.A217T|FAM70A_uc010nqo.3_Intron	p.A241T	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	948	-			241					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.721G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255235	0.95336	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.58358	0.34;0.34;0.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.79736	-0.1678	10	0.72032	D	0.01	-11.2799	16.7868	0.85576	0.0:1.0:0.0:0.0	.	217;241	B1APR4;Q5JRV8	.;FA70A_HUMAN	T	241;217;77	ENSP00000310110:A241T;ENSP00000360420:A217T;ENSP00000360403:A77T	ENSP00000310110:A241T	A	-	1	0	FAM70A	119294794	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	7.487000	0.81328	2.168000	0.68352	0.594000	0.82650	GCT		0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		T	119410766	C	T	119410766	3	4	150	1	0	0	0	0	1	0	0	0	5605	768	27	1	340	1	FAM70A	23	119410766	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1264918	119410766	35859794	114	10344											
GLUD2	2747	broad.mit.edu	37	chrX	120181970	120181970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccagcaccgcacGccctgcaagggaggtatccg	10	3	12	16	3	0	0	0	0	0	0	1	1	1	1	4	2	4	5	4	2	2	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:120181970G>A	ENST00000328078.1	+	1	509	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	144					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCACCGCACGCCCTGCAAGG	0.572																																						uc004eto.3																			0		p.R143C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(430-432)acG>acA		Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						79	58	65					X																	120181970		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181970G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.432G>A	X.37:g.120181970G>A							p.T144T	NM_012084	NP_036216	P49448	DHE4_HUMAN			0	509	+			144					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.432G>A	CCDS14603.1																																																																																				0.572	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		A	120181970	G	A	120181970	2	1	150	1	0	0	0	0	0	0	0	1	6477	1074	38	1		1	GLUD2	23	120181970	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	771204	120181970	35088590	115	10345											
OCRL	4952	broad.mit.edu	37	chrX	128701326	128701326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtatgactctaaaacagaCcggtgggattccaggtaaag	15	8	11	7	1	1	2	0	1	1	1	2	3	2	3	2	3	1	2	2	3	6	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128701326C>A	ENST00000371113.4	+	14	1617	c.1452C>A	c.(1450-1452)gaC>gaA	p.D484E	OCRL_ENST00000357121.5_Missense_Mutation_p.D484E	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	484	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTAAAACAGACCGGTGGGATT	0.393																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1450-1452)gaC>gaA		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							72	60	64					X																	128701326		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128701326C>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1452C>A	X.37:g.128701326C>A	ENSP00000360154:p.Asp484Glu					OCRL_uc004eur.3_Missense_Mutation_p.D484E	p.D484E	NM_000276	NP_000267	Q01968	OCRL_HUMAN			13	1617	+			484					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1452C>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590397	0.66219	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.80994	-1.44;-1.44	5.86	0.713	0.18173	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.70595	2.14	0.58432	D	0.999999	D;P	0.63046	0.992;0.548	D;B	0.68483	0.958;0.431	D	0.83688	0.0175	10	0.87932	D	0	.	9.1269	0.36821	0.0:0.3666:0.0:0.6334	.	484;484	Q01968-2;Q01968	.;OCRL_HUMAN	E	484	ENSP00000360154:D484E;ENSP00000349635:D484E	ENSP00000349635:D484E	D	+	3	2	OCRL	128529007	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	0.396000	0.20867	-0.068000	0.12953	0.600000	0.82982	GAC		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		A	128701326	C	A	128701326	3	1	150	1	0	0	0	0	1	0	0	0	10823	506	18	5	1506	5	OCRL	23	128701326	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	8519356	128701326	26569234	116	10346											
XPNPEP2	7512	broad.mit.edu	37	chrX	128887224	128887224	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctcaaggccagccaCgtaagtccacgttcaggcag	9	6	10	16	2	2	0	2	0	0	0	4	0	4	0	5	2	1	3	5	2	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128887224C>T	ENST00000371106.3	+	11	1299	c.1107C>T	c.(1105-1107)caC>caT	p.H369H		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	369						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCAGCCACGTAAGTCCAC	0.537																																						uc004eut.1																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.e11+1		Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.							138	107	117					X																	128887224		2203	4299	6502	SO:0001630	splice_region_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887224C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1107+1C>T	X.37:g.128887224C>T							p.H369_splice	NM_003399	NP_003390	O43895	XPP2_HUMAN			11	1351	+			369					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1107_splice	CCDS14613.1																																																																																				0.537	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	Silent	T	128887224	C	T	128887224	5	4	150	1	0	0	0	0	0	0	1	0	17440	550	19	1	1149	1	XPNPEP2	23	128887224	Splice_Site	SNP	C	TCGA-16-1045-01B-01W-0611-08	185898	128887224	26383336	117	10347											
SAGE1	55511	broad.mit.edu	37	chrX	134989538	134989538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaccgcaacctaataacgTattgtcaactgttcaaccag	14	9	5	13	2	2	0	2	0	0	0	2	0	2	0	4	0	5	3	4	0	7	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:134989538T>G	ENST00000370709.3	+	8	944	c.944T>G	c.(943-945)gTa>gGa	p.V315G	SAGE1_ENST00000535938.1_Missense_Mutation_p.V315G|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.V315G			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	315						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCTAATAACGTATTGTCAACT	0.408																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(943-945)gTa>gGa		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							175	143	154					X																	134989538		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134989538T>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.944T>G	X.37:g.134989538T>G	ENSP00000359743:p.Val315Gly					SAGE1_uc010nry.1_Missense_Mutation_p.V284G|SAGE1_uc011mvv.2_Intron	p.V315G	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			8	1111	+	Acute lymphoblastic leukemia(192;0.000127)		315					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.944T>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	6.422	0.445999	0.12164	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.36699	1.24;1.24;1.24	1.56	-1.26	0.09376	.	.	.	.	.	T	0.27205	0.0667	L	0.27053	0.805	0.09310	N	1	P	0.48589	0.912	P	0.47744	0.556	T	0.15983	-1.0418	9	0.72032	D	0.01	.	4.2836	0.10844	0.0:0.4602:0.0:0.5398	.	315	Q9NXZ1	SAGE1_HUMAN	G	315	ENSP00000323191:V315G;ENSP00000445959:V315G;ENSP00000359743:V315G	ENSP00000323191:V315G	V	+	2	0	SAGE1	134817204	0.631000	0.27164	0.000000	0.03702	0.000000	0.00434	0.099000	0.15210	-0.414000	0.07495	-1.339000	0.01253	GTA		0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		G	134989538	T	G	134989538	3	3	150	1	0	0	0	0	1	0	0	0	13809	1638	57	5	974	5	SAGE1	23	134989538	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	6102314	134989538	20281022	118	10348											
KIAA1751	85452	broad.mit.edu	37	chr1	1902133	1902133	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcctggcgccggcgctgGtggacaaggtgcctgaatgc	6	7	16	12	3	0	1	0	1	0	0	1	2	1	2	3	5	3	2	3	5	2	0	rs200829667	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:1902133G>A								TMEM52 (51421 upstream) : C1orf222 (17429 downstream)																							GCCGGCGCTGGTGGACAAGGT	0.677																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1009-1011)caC>caT		Homo sapiens KIAA1751 (KIAA1751), mRNA.							45	53	51					1																	1902133		2125	4230	6355	SO:0001628	intergenic_variant	85452							g.chr1:1902133G>A																													1.37:g.1902133G>A						KIAA1751_uc009vkz.1_Silent_p.H337H	p.H337H	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	9	1167	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	337						Silent	SNP		37	c.1011C>T																																																																																				0	0.677									A	1902133	G	A	1902133	1	1	151	0	1	0	0	0	0	0	0	0	8256	1252	44	3		3	KIAA1751	1	1902133	IGR	SNP	G	TCGA-16-1048-01B-01D-1353-08		1902133	247348488	1	10349											
CHD5	26038	broad.mit.edu	37	chr1	6195434	6195434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttccttggagatgtcaGcaaactcctccaggaagccc	9	9	10	13	0	2	1	1	0	1	1	5	3	5	2	4	3	3	1	4	3	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:6195434G>A	ENST00000262450.3	-	18	2825	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGTCAGCAAACTCCTC	0.602																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2725-2727)gCt>gTt		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							60	59	59					1																	6195434		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6195434G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2726C>T	1.37:g.6195434G>A	ENSP00000262450:p.Ala909Val					CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.A909V	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	17	2837	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	909					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2726C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153305	0.94645	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93366	-3.21	4.8	4.8	0.61643	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.94069	0.8099	N	0.20881	0.62	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.95364	0.8458	10	0.87932	D	0	-15.8122	18.2357	0.89948	0.0:0.0:1.0:0.0	.	909	Q8TDI0	CHD5_HUMAN	V	909;425;317;317	ENSP00000262450:A909V	ENSP00000262450:A909V	A	-	2	0	CHD5	6118021	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	9.631000	0.98424	2.392000	0.81423	0.561000	0.74099	GCT		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6195434	G	A	6195434	3	1	151	1	0	0	0	0	1	0	0	0	3328	971	34	3	3234	3	CHD5	1	6195434	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4293301	6195434	243055187	2	10350											
ZMYM4	9202	broad.mit.edu	37	chr1	35836122	35836122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcttatcagaggaaaGggtctactcagctattctgc	12	11	9	9	0	4	1	2	0	2	1	4	2	4	2	0	2	5	2	0	2	5	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:35836122G>T	ENST00000314607.6	+	7	1155	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Missense_Mutation_p.G359W	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	359					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGAAAGGGTCTACTCA	0.483																																						uc001byt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1075-1077)Ggg>Tgg		Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.							97	97	97					1																	35836122		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836122G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1075G>T	1.37:g.35836122G>T	ENSP00000322915:p.Gly359Trp					ZMYM4_uc009vuu.3_Missense_Mutation_p.G327W|ZMYM4_uc001byu.3_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.3_Missense_Mutation_p.G98W|AF119915_uc001byv.2_5'Flank	p.G359W	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			6	1155	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	359					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1075G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843724|4.843724	0.91197|0.91197	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.64085|.	-0.08;-0.08|.	5.48|5.48	5.48|5.48	0.80851|0.80851	TRASH (1);Zinc finger, MYM-type (1);|.	0.054657|.	0.64402|.	D|.	0.000001|.	T|T	0.76730|0.76730	0.4028|0.4028	M|M	0.73962|0.73962	2.25|2.25	0.35299|0.35299	D|D	0.782902|0.782902	B|.	0.31383|.	0.321|.	P|.	0.46320|.	0.512|.	T|T	0.81382|0.81382	-0.0958|-0.0958	10|5	0.72032|.	D|.	0.01|.	-7.2842|-7.2842	19.3456|19.3456	0.94361|0.94361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	359|.	Q5VZL5|.	ZMYM4_HUMAN|.	W|M	359|107	ENSP00000322915:G359W;ENSP00000362394:G359W|.	ENSP00000322915:G359W|.	G|R	+|+	1|2	0|0	ZMYM4|ZMYM4	35608709|35608709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.516000|8.516000	0.90552|0.90552	2.573000|2.573000	0.86826|0.86826	0.591000|0.591000	0.81541|0.81541	GGG|AGG		0.483	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		T	35836122	G	T	35836122	3	4	151	1	0	0	0	0	1	0	0	0	17699	1000	35	5	1101	5	ZMYM4	1	35836122	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	29640688	35836122	213414499	3	10351											
EPS15	2060	broad.mit.edu	37	chr1	51869155	51869155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacagctgtagtcaccTcattttcatcagtcacacca	12	11	5	13	0	5	0	5	0	0	0	5	0	5	0	2	0	2	3	2	0	2	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:51869155T>C	ENST00000371733.3	-	17	1823	c.1727A>G	c.(1726-1728)gAg>gGg	p.E576G	EPS15_ENST00000396122.4_Missense_Mutation_p.E253G|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.E442G	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	576					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTAGTCACCTCATTTTCATC	0.338			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1726-1728)gAg>gGg		Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.							108	106	107					1																	51869155		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51869155T>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1727A>G	1.37:g.51869155T>C	ENSP00000360798:p.Glu576Gly					EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G	p.E576G	NM_001981	NP_001972	P42566	EPS15_HUMAN			16	1819	-			576					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1727A>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	9.032	0.987490	0.18966	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.25579	1.79;2.27;2.79	4.6	2.18	0.27775	.	0.000000	0.33144	N	0.005233	T	0.28962	0.0719	N	0.16478	0.41	0.21064	N	0.999797	D;D;P	0.89917	0.976;1.0;0.72	P;D;B	0.87578	0.626;0.998;0.42	T	0.04427	-1.0952	10	0.51188	T	0.08	.	7.5361	0.27710	0.1403:0.0:0.1466:0.7131	.	442;576;262	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	G	442;576;253	ENSP00000360795:E442G;ENSP00000360798:E576G;ENSP00000379428:E253G	ENSP00000360795:E442G	E	-	2	0	EPS15	51641743	0.849000	0.29639	0.164000	0.22755	0.092000	0.18411	2.665000	0.46791	0.464000	0.27142	-0.468000	0.05107	GAG		0.338	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		C	51869155	T	C	51869155	3	2	151	1	0	0	0	0	1	0	0	0	5192	1551	54	4	999	4	EPS15	1	51869155	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	16033033	51869155	197381466	4	10352											
ECHDC2	55268	broad.mit.edu	37	chr1	53370462	53370462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtgaagatgagctccttCgccagggccacccccagaca	9	5	10	17	2	0	4	0	2	0	2	2	4	1	4	6	1	1	1	6	1	1	1	rs376747011		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:53370462C>T	ENST00000371522.4	-	7	651	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ECHDC2_ENST00000358358.5_Silent_p.A155A|ECHDC2_ENST00000536120.1_Silent_p.A140A	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	186					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGAGCTCCTTCGCCAGGGCCA	0.642																																						uc001cup.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(556-558)gcG>gcA		Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.		C	,,	0,4406		0,0,2203	44	40	42		558,465,465	-8.1	0.8	1		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ECHDC2	NM_001198961.1,NM_001198962.1,NM_018281.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	186/293,155/245,155/262	53370462	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370462C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.558G>A	1.37:g.53370462C>T						ECHDC2_uc001cun.3_Silent_p.A109A|ECHDC2_uc001cuo.4_Silent_p.A155A|ECHDC2_uc021onl.1_Silent_p.A155A|ECHDC2_uc010onk.2_Silent_p.A140A	p.A186A	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN			6	804	-			186					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.558G>A	CCDS55600.1																																																																																				0.642	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		T	53370462	C	T	53370462	2	4	151	1	0	0	0	0	0	0	0	1	4894	871	31	2		2	ECHDC2	1	53370462	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	1501307	53370462	195880159	5	10353											
AMY2B	280	broad.mit.edu	37	chr1	104115707	104115710	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															tcgtatttatgtggatgctgTaattaatcatatgtctggta																										TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:104115707_104115710delTAAT	ENST00000361355.4	+	5	954_957	c.338_341delTAAT	c.(337-342)gtaattfs	p.VI113fs	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	113					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGGATGCTGTAATTAATCATATG	0.387																																						uc010ouo.2																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(337-342)gtaattfs		Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.																																				SO:0001589	frameshift_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115707_104115710delTAAT	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.338_341delTAAT	1.37:g.104115711_104115714delTAAT	ENSP00000354610:p.Val113fs					AMY2B_uc001duq.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank	p.V113fs	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	14	2042_2045	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	113					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Frame_Shift_Del	DEL	ENST00000361355.4	37	c.338_341delTAAT	CCDS782.1																																																																																				0.387	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		-	104115710	TAAT	-	104115707	7	5	151	1	0	1	0	1	0	0	0	0	595	1638	57	0	348	0	AMY2B	1	104115707	Frame_Shift_Del	DEL	TAAT	TCGA-16-1048-01B-01D-1353-08	50745245	104115707	145134914	6	10354											
TXNIP	10628	broad.mit.edu	37	chr1	145439050	145439050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctggaagaccagccaaCaggtaagcggcccaattcat	12	8	9	12	1	3	1	1	0	2	1	3	2	3	2	3	3	3	1	3	3	4	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:145439050C>A	ENST00000369317.4	+	1	582	c.248C>A	c.(247-249)aCa>aAa	p.T83K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	83					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCAGCCAACAGGTAAGCGG	0.463																																						uc001enn.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(247-249)aCa>aAa		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							65	66	66					1																	145439050		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439050C>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.248C>A	1.37:g.145439050C>A	ENSP00000358323:p.Thr83Lys					TXNIP_uc010oys.2_5'Flank	p.T83K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			0	589	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		83					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.248C>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624208	0.66901	.	.	ENSG00000117289	ENST00000369317	T	0.12774	2.65	5.27	5.27	0.74061	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.243970	0.01464	N	0.015989	T	0.07908	0.0198	L	0.56769	1.78	0.50467	D	0.999871	B	0.06786	0.001	B	0.06405	0.002	T	0.61715	-0.7006	10	0.05620	T	0.96	17.5029	16.4403	0.83898	0.0:1.0:0.0:0.0	.	83	Q9H3M7	TXNIP_HUMAN	K	83	ENSP00000358323:T83K	ENSP00000358323:T83K	T	+	2	0	TXNIP	144150407	0.996000	0.38824	0.798000	0.32154	0.542000	0.35054	4.093000	0.57714	2.757000	0.94681	0.655000	0.94253	ACA		0.463	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		A	145439050	C	A	145439050	3	1	151	1	0	0	0	0	1	0	0	0	16800	478	17	5	250	5	TXNIP	1	145439050	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	41323343	145439050	103811571	7	10355											
OR6K2	81448	broad.mit.edu	37	chr1	158669789	158669789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccacaataccatcgtaGgacatgaagatgagcatcac	16	6	8	11	1	1	3	1	2	0	1	2	4	1	4	2	1	3	2	2	1	4	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:158669789G>A	ENST00000359610.2	-	1	697	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCATCGTAGGACATGAAGA	0.478																																						uc001fsu.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(652-654)tcC>tcT		Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.							150	121	131					1																	158669789		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669789G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.654C>T	1.37:g.158669789G>A							p.S218S	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			0	654	-	all_hematologic(112;0.0378)		218					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.654C>T	CCDS30902.1																																																																																				0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		A	158669789	G	A	158669789	2	1	151	1	0	0	0	0	0	0	0	1	11202	987	35	3		3	OR6K2	1	158669789	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	13230739	158669789	90580832	8	10356											
CNTN2	6900	broad.mit.edu	37	chr1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagaacatggcagtcCgcccagcaccacaccctggc	9	5	12	15	1	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:205042816C>T	ENST00000331830.4	+	23	3330	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1016					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(3046-3048)Cgc>Tgc		Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.							126	99	108					1																	205042816		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042816C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.3046C>T	1.37:g.205042816C>T	ENSP00000330633:p.Arg1016Cys					CNTN2_uc001hbs.3_Missense_Mutation_p.R804C	p.R1016C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		22	3315	+	all_cancers(21;0.144)|Breast(84;0.0437)		1016					P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.3046C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301901	0.23736	.	.	ENSG00000184144	ENST00000331830	T	0.61859	0.07	4.9	-8.38	0.00973	.	0.812561	0.09709	U	0.765980	T	0.40839	0.1133	L	0.47716	1.5	0.21064	N	0.999794	B	0.02656	0.0	B	0.01281	0.0	T	0.28038	-1.0056	10	0.46703	T	0.11	.	6.6956	0.23197	0.2658:0.4631:0.0:0.2712	.	1016	Q02246	CNTN2_HUMAN	C	1016	ENSP00000330633:R1016C	ENSP00000330633:R1016C	R	+	1	0	CNTN2	203309439	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.917000	0.04025	-1.679000	0.01452	-0.258000	0.10820	CGC		0.607	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		T	205042816	C	T	205042816	3	4	151	1	0	0	0	0	1	0	0	0	3641	652	23	2	3132	2	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	46373027	205042816	44207805	9	10357											
EHD3	30845	broad.mit.edu	37	chr2	31483729	31483729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagggacatccagagtctgCcccgaaatgctgccctgcgc	8	7	11	15	2	2	1	1	0	1	1	3	3	3	2	4	1	4	1	4	1	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:31483729C>T	ENST00000322054.5	+	4	1141	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	286	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAGAGTCTGCCCCGAAATGC	0.622																																						uc002rnu.3																			0		p.P286P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(856-858)Ccc>Tcc		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							73	77	75					2																	31483729		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483729C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.856C>T	2.37:g.31483729C>T	ENSP00000327116:p.Pro286Ser					EHD3_uc010ymt.2_Intron	p.P286S	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1464	+	Acute lymphoblastic leukemia(172;0.155)		286					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.856C>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383822	0.82792	.	.	ENSG00000013016	ENST00000322054	D	0.95412	-3.7	4.97	4.1	0.47936	.	0.047537	0.85682	D	0.000000	D	0.96284	0.8788	M	0.87758	2.905	0.80722	D	1	P	0.49783	0.928	P	0.47705	0.555	D	0.96373	0.9275	10	0.87932	D	0	-26.881	13.4992	0.61445	0.0:0.9254:0.0:0.0746	.	286	Q9NZN3	EHD3_HUMAN	S	286	ENSP00000327116:P286S	ENSP00000327116:P286S	P	+	1	0	EHD3	31337233	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.651000	0.83577	1.332000	0.45431	0.561000	0.74099	CCC		0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31483729	C	T	31483729	3	4	151	1	0	0	0	0	1	0	0	0	4979	739	26	3	870	3	EHD3	2	31483729	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		31483729	211715644	10	10358											
BIRC6	57448	broad.mit.edu	37	chr2	32727897	32727897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagttatctgagccattAttgtggttcattttgagagt	8	17	10	6	0	2	2	1	2	1	1	2	3	2	2	2	1	2	2	2	1	2	6			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:32727897A>T	ENST00000421745.2	+	48	9377	c.9243A>T	c.(9241-9243)ttA>ttT	p.L3081F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3081					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAGCCATTATTGTGGTTCA	0.313																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(9241-9243)ttA>ttT		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							152	140	144					2																	32727897		2203	4298	6501	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32727897A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9243A>T	2.37:g.32727897A>T	ENSP00000393596:p.Leu3081Phe						p.L3081F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			47	9377	+	Acute lymphoblastic leukemia(172;0.155)		3081					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9243A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963496	0.34659	.	.	ENSG00000115760	ENST00000421745	D	0.82526	-1.62	5.87	-4.2	0.03823	.	0.000000	0.64402	D	0.000001	T	0.78317	0.4264	L	0.59436	1.845	0.28199	N	0.927422	P	0.51791	0.948	P	0.51487	0.671	T	0.71471	-0.4583	10	0.33141	T	0.24	.	5.3243	0.15898	0.2451:0.1846:0.4739:0.0964	.	3081	Q9NR09	BIRC6_HUMAN	F	3081	ENSP00000393596:L3081F	ENSP00000393596:L3081F	L	+	3	2	BIRC6	32581401	0.012000	0.17670	0.631000	0.29282	0.674000	0.39518	-0.560000	0.05964	-0.324000	0.08589	0.533000	0.62120	TTA		0.313	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32727897	A	T	32727897	3	4	151	1	0	0	0	0	1	0	0	0	1438	446	16	5	9433	5	BIRC6	2	32727897	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	1244168	32727897	210471476	11	10359											
SLC4A5	57835	broad.mit.edu	37	chr2	74477637	74477637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatccagacacaggccacCgaagaacctgctcaagacag	15	4	9	13	1	1	3	1	0	0	3	2	5	2	3	4	1	2	1	4	1	4	1	rs201823142		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:74477637C>T	ENST00000377634.4	-	17	1885	c.1486G>A	c.(1486-1488)Ggt>Agt	p.G496S	SLC4A5_ENST00000358683.4_Missense_Mutation_p.G432S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G496S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G496S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G496S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G496S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G432S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G496S					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGGCCACCGAAGAACCTG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sko.1																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1486-1488)Ggt>Agt		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.							135	131	132					2																	74477637		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477637C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1486G>A	2.37:g.74477637C>T	ENSP00000366861:p.Gly496Ser		OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S	p.G496S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			11	1488	-			496			Gly-rich.			Missense_Mutation	SNP	ENST00000377634.4	37	c.1486G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864277	0.91511	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.44	4.55	0.56014	Bicarbonate transporter, C-terminal (1);	0.047725	0.85682	D	0.000000	D	0.94798	0.8320	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.77557	0.958;0.99;0.987;0.982;0.978	D	0.94891	0.8048	10	0.87932	D	0	.	12.3368	0.55071	0.0:0.9168:0.0:0.0832	.	496;496;432;496;496	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	S	496;496;496;432;496;432;496;496;496;496	ENSP00000377587:G496S;ENSP00000251768:G496S;ENSP00000352461:G432S;ENSP00000395804:G496S;ENSP00000351513:G432S;ENSP00000350475:G496S;ENSP00000366859:G496S;ENSP00000366861:G496S;ENSP00000405678:G496S	ENSP00000251768:G496S	G	-	1	0	SLC4A5	74331145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.924000	0.70054	2.837000	0.97791	0.655000	0.94253	GGT		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			T	74477637	C	T	74477637	3	4	151	1	0	0	0	0	1	0	0	0	14657	652	23	2	1987	2	SLC4A5	2	74477637	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	41749740	74477637	168721736	12	10360											
IL18RAP	8807	broad.mit.edu	37	chr2	103040791	103040791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcacataagcaagacctaCttcttgggagcactggctct	11	10	8	12	0	3	1	1	0	2	1	3	2	3	2	1	2	3	3	1	2	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:103040791C>T	ENST00000264260.2	+	5	1085	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	IL18RAP_ENST00000409369.1_Missense_Mutation_p.L24F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	166	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						gcaagacctacttcttgggag	0.468																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(496-498)Ctt>Ttt		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							113	106	109					2																	103040791		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040791C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.496C>T	2.37:g.103040791C>T	ENSP00000264260:p.Leu166Phe					IL18RAP_uc010fiz.3_Missense_Mutation_p.L24F	p.L166F	NM_003853	NP_003844	O95256	I18RA_HUMAN			4	980	+			166			Ig-like C2-type 1.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.496C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350320	0.41599	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.78246	1.74;-1.16	5.22	3.31	0.37934	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.198748	0.35970	N	0.002878	T	0.72220	0.3433	M	0.69823	2.125	0.09310	N	0.999995	P	0.39326	0.668	B	0.40444	0.329	T	0.59080	-0.7521	10	0.10111	T	0.7	.	8.4821	0.33049	0.1752:0.6558:0.169:0.0	.	166	O95256	I18RA_HUMAN	F	166;24	ENSP00000264260:L166F;ENSP00000387201:L24F	ENSP00000264260:L166F	L	+	1	0	IL18RAP	102407223	0.072000	0.21174	0.027000	0.17364	0.091000	0.18340	0.721000	0.25911	0.607000	0.29982	0.655000	0.94253	CTT		0.468	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103040791	C	T	103040791	3	4	151	1	0	0	0	0	1	0	0	0	7648	565	20	3	506	3	IL18RAP	2	103040791	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	28563154	103040791	140158582	13	10361											
TMEM87B	84910	broad.mit.edu	37	chr2	112865416	112865416	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcttcattcacagatGtgtaagttatcttctgttac	8	18	5	10	0	5	1	2	0	3	1	6	1	6	1	1	0	1	3	1	0	3	7			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:112865416G>A	ENST00000283206.4	+	17	1945	c.1576G>A	c.(1576-1578)Gta>Ata	p.V526I		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	526						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCACAGATGTGTAAGTTAT	0.343																																						uc002thm.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.e17+1		Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.							100	99	100					2																	112865416		2202	4300	6502	SO:0001630	splice_region_variant	84910					integral to membrane		g.chr2:112865416G>A	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1577+1G>A	2.37:g.112865416G>A							p.V526_splice	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			17	1946	+			526					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.1577_splice	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702714	0.30232	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.54	4.66	0.58398	.	0.119660	0.56097	N	0.000029	T	0.55705	0.1937	L	0.57536	1.79	0.31437	N	0.672447	B	0.31174	0.311	B	0.38378	0.272	T	0.61559	-0.7038	9	0.51188	T	0.08	-9.1411	15.3139	0.74059	0.0764:0.0:0.9236:0.0	.	526	Q96K49	TM87B_HUMAN	I	526	.	ENSP00000283206:V526I	V	+	1	0	TMEM87B	112581887	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	6.418000	0.73341	0.712000	0.32039	-1.641000	0.00772	GTA		0.343	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	Missense_Mutation	A	112865416	G	A	112865416	5	1	151	1	0	0	0	0	0	0	1	0	16208	1391	48	3	1642	3	TMEM87B	2	112865416	Splice_Site	SNP	G	TCGA-16-1048-01B-01D-1353-08	9824625	112865416	130333957	14	10362											
GCG	2641	broad.mit.edu	37	chr2	163005628	163005628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgtcttgaagggaacGttgccagctgccttgtacca	7	12	11	11	1	2	1	0	1	2	0	2	2	2	2	3	1	5	3	3	1	3	4	rs202213699		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:163005628G>A	ENST00000418842.2	-	2	315	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	GCG_ENST00000375497.3_Missense_Mutation_p.R21C	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGAAGGGAACGTTGCCAGCTG	0.413													G|||	1	0.000199681	0	0	5008	,	,		14838	0		0.001	False		,,,				2504	0					uc002ucc.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(61-63)Cgt>Tgt		Homo sapiens glucagon (GCG), mRNA.	Exenatide(DB01276)|Phentolamine(DB00692)	G	CYS/ARG	0,3750		0,0,1875	149	144	146		61	4.2	1	2		146	2,8222		0,2,4110	no	missense	GCG	NM_002054.3	180	0,2,5985	AA,AG,GG		0.0243,0.0,0.0167	possibly-damaging	21/181	163005628	2,11972	1875	4112	5987	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163005628G>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.61C>T	2.37:g.163005628G>A	ENSP00000387662:p.Arg21Cys						p.R21C	NM_002054	NP_002045	P01275	GLUC_HUMAN			1	317	-			21					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.61C>T	CCDS46439.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.41	2.826487	0.50739	0.0	2.43E-4	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.44881	0.91;0.91	5.1	4.18	0.49190	.	0.845482	0.10637	N	0.651475	T	0.30727	0.0774	N	0.22421	0.69	0.32837	D	0.504858	P	0.51057	0.941	B	0.39738	0.308	T	0.42632	-0.9440	10	0.87932	D	0	13.5564	12.2767	0.54739	0.0:0.0:0.6513:0.3487	.	21	P01275	GLUC_HUMAN	C	21	ENSP00000387662:R21C;ENSP00000364647:R21C	ENSP00000364647:R21C	R	-	1	0	GCG	162713874	0.991000	0.36638	0.988000	0.46212	0.998000	0.95712	2.237000	0.43061	2.663000	0.90544	0.591000	0.81541	CGT		0.413	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		A	163005628	G	A	163005628	3	1	151	1	0	0	0	0	1	0	0	0	6290	1145	40	1	501	1	GCG	2	163005628	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	50140212	163005628	80193745	15	10363											
MYO3B	140469	broad.mit.edu	37	chr2	171243715	171243715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatgacaactcgagccgtTttggaaaatatctggaaatg	14	11	9	7	2	2	1	1	1	1	0	3	4	2	3	1	2	2	1	1	2	6	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:171243715T>C	ENST00000408978.4	+	14	1617	c.1474T>C	c.(1474-1476)Ttt>Ctt	p.F492L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F492L|MYO3B_ENST00000334231.6_Missense_Mutation_p.F501L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	492	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCGAGCCGTTTTGGAAAATA	0.433																																						uc002ufy.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1474-1476)Ttt>Ctt		Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.							87	86	86					2																	171243715		1871	4111	5982	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171243715T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1474T>C	2.37:g.171243715T>C	ENSP00000386213:p.Phe492Leu					MYO3B_uc002ufv.3_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F492L|MYO3B_uc002ufz.3_Missense_Mutation_p.F492L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	p.F492L	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			13	1617	+			492			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1474T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	32	5.133539	0.94517	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.63	5.63	0.86233	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94583	0.7781	10	0.72032	D	0.01	.	15.8361	0.78799	0.0:0.0:0.0:1.0	.	492;492;492	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	L	492;492;491;501;501	ENSP00000386497:F492L;ENSP00000386213:F492L;ENSP00000446237:F501L;ENSP00000335100:F501L	ENSP00000314213:F491L	F	+	1	0	MYO3B	170951961	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	8.010000	0.88615	2.145000	0.66743	0.379000	0.24179	TTT		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			C	171243715	T	C	171243715	3	2	151	1	0	0	0	0	1	0	0	0	10077	1841	64	4	1528	4	MYO3B	2	171243715	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	8238087	171243715	71955658	16	10364											
ITGA4	3676	broad.mit.edu	37	chr2	182358131	182358131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgcagatgggatctcGtcaaccttctcacaggtaag	9	9	12	11	2	3	1	2	0	2	1	5	2	3	2	2	3	2	2	2	3	2	2	rs368002151		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:182358131G>A	ENST00000397033.2	+	11	1663	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	411					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGGGATCTCGTCAACCTTCT	0.368																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1231-1233)tcG>tcA		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)	G		0,3752		0,0,1876	105	99	101		1233	-11.7	0	2		101	1,8197		0,1,4098	no	coding-synonymous	ITGA4	NM_000885.4		0,1,5974	AA,AG,GG		0.0122,0.0,0.0084		411/1033	182358131	1,11949	1876	4099	5975	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182358131G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1233G>A	2.37:g.182358131G>A							p.S411S	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1996	+			411					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1233G>A	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182358131	G	A	182358131	2	1	151	1	0	0	0	0	0	0	0	1	7878	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	11114416	182358131	60841242	17	10365											
MYO1B	4430	broad.mit.edu	37	chr2	192141643	192141643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccaaaatggaggtgaaaAcctcacttctggacaatatg	14	9	10	8	0	2	1	1	1	1	0	2	3	2	3	2	4	1	0	2	4	6	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:192141643A>T	ENST00000392318.3	+	2	269	c.22A>T	c.(22-24)Acc>Tcc	p.T8S	MYO1B_ENST00000339514.4_Missense_Mutation_p.T8S|MYO1B_ENST00000304164.4_Missense_Mutation_p.T8S|MYO1B_ENST00000392316.1_Missense_Mutation_p.T8S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	8					actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAGGTGAAAACCTCACTTCT	0.433																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(22-24)Acc>Tcc		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							110	107	108					2																	192141643		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192141643A>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.22A>T	2.37:g.192141643A>T	ENSP00000376132:p.Thr8Ser					MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S	p.T8S	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		1	277	+			8					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.22A>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	8.053	0.766317	0.15983	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000420448;ENST00000392316	D;D;D;D;D;D;T;D	0.86956	-1.77;-2.18;-2.19;-2.19;-1.61;-2.05;-0.84;-2.19	5.56	2.97	0.34412	.	0.136554	0.49305	N	0.000151	T	0.62792	0.2457	N	0.00996	-1.065	0.80722	D	1	B;B	0.17038	0.0;0.02	B;B	0.23574	0.0;0.047	T	0.55250	-0.8170	10	0.09084	T	0.74	.	9.2096	0.37311	0.7008:0.0:0.0:0.2992	.	8;8	O43795;O43795-2	MYO1B_HUMAN;.	S	8	ENSP00000401324:T8S;ENSP00000341903:T8S;ENSP00000376132:T8S;ENSP00000306382:T8S;ENSP00000399459:T8S;ENSP00000388140:T8S;ENSP00000387610:T8S;ENSP00000376130:T8S	ENSP00000306382:T8S	T	+	1	0	MYO1B	191849888	1.000000	0.71417	0.519000	0.27824	0.938000	0.57974	4.759000	0.62227	0.899000	0.36444	0.533000	0.62120	ACC		0.433	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		T	192141643	A	T	192141643	3	4	151	1	0	0	0	0	1	0	0	0	10069	43	2	5	24	5	MYO1B	2	192141643	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	9783512	192141643	51057730	18	10366											
SLC19A3	80704	broad.mit.edu	37	chr2	228560683	228560683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcccagatattggctgtgTaatgcatgagaaataaagaa	16	9	10	6	1	0	3	0	1	0	3	0	4	0	3	1	1	1	3	1	1	6	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:228560683T>C	ENST00000258403.3	-	4	1165	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361C|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	365					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443																																						uc002vpi.3																			0		p.Y365H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1093-1095)tAc>tGc		Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	L-Cysteine(DB00151)						82	91	88					2																	228560683		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560683T>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1094A>G	2.37:g.228560683T>C	ENSP00000258403:p.Tyr365Cys					SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C	p.Y365C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	1183	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	365						Missense_Mutation	SNP	ENST00000258403.3	37	c.1094A>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.520743	0.27211	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.81247	-1.47;-1.47	5.03	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.104953	0.64402	D	0.000003	T	0.76779	0.4035	M	0.64676	1.99	0.21841	N	0.999516	P;B	0.41420	0.749;0.372	B;B	0.40825	0.341;0.216	T	0.70324	-0.4903	10	0.42905	T	0.14	-6.9152	10.2409	0.43312	0.2384:0.0:0.0:0.7616	.	361;365	F5H2M8;Q9BZV2	.;S19A3_HUMAN	C	365;361	ENSP00000258403:Y365C;ENSP00000445519:Y361C	ENSP00000258403:Y365C	Y	-	2	0	SLC19A3	228268927	1.000000	0.71417	0.995000	0.50966	0.682000	0.39822	3.277000	0.51654	2.111000	0.64477	0.533000	0.62120	TAC		0.443	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			C	228560683	T	C	228560683	3	2	151	1	0	0	0	0	1	0	0	0	14430	1638	57	4	408	4	SLC19A3	2	228560683	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	36419040	228560683	14638690	19	10367											
CHRND	1144	broad.mit.edu	37	chr2	233394760	233394760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctacctcatcatccgccGcaagcccctcttctacatca	8	11	3	19	2	6	0	3	0	3	0	7	0	7	0	5	0	3	1	5	0	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:233394760G>A	ENST00000258385.3	+	7	763	c.731G>A	c.(730-732)cGc>cAc	p.R244H	CHRND_ENST00000543200.1_Missense_Mutation_p.R229H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P207P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ATCATCCGCCGCAAGCCCCTC	0.607																																						uc002vsw.3																			0		p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(730-732)cGc>cAc		Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.							177	146	156					2																	233394760		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394760G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.731G>A	2.37:g.233394760G>A	ENSP00000258385:p.Arg244His					CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R229H|CHRND_uc010zmh.2_Intron	p.R244H	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	6	735	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	244					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.731G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449696	0.96205	.	.	ENSG00000135902	ENST00000543200;ENST00000258385	D;D	0.96802	-4.13;-4.13	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.048932	0.85682	D	0.000000	D	0.99023	0.9666	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	229;244;244	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	H	229;244	ENSP00000438380:R229H;ENSP00000258385:R244H	ENSP00000258385:R244H	R	+	2	0	CHRND	233103004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.605000	0.88082	0.655000	0.94253	CGC		0.607	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			A	233394760	G	A	233394760	3	1	151	1	0	0	0	0	1	0	0	0	3394	1087	38	1	757	1	CHRND	2	233394760	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4834077	233394760	9804613	20	10368											
SNED1	25992	broad.mit.edu	37	chr2	242004746	242004746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgacggccctcaagatggaGagagtggaggagagtggggt	10	5	19	7	2	1	3	1	0	0	3	1	8	1	5	2	6	0	0	2	6	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:242004746G>A	ENST00000310397.8	+	21	2745	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	SNED1_ENST00000342631.6_Silent_p.E915E|SNED1_ENST00000401884.1_Silent_p.E915E|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.E915E	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	915	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAAGATGGAGAGAGTGGAGG	0.607																																						uc002wah.1																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2743-2745)gaG>gaA		Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.							31	35	34					2																	242004746		1977	4149	6126	SO:0001819	synonymous_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242004746G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2745G>A	2.37:g.242004746G>A						SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.3_Silent_p.E2E	p.E915E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	20	2745	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	915			Fibronectin type-III 1.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	c.2745G>A	CCDS46562.1																																																																																				0.607	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		A	242004746	G	A	242004746	2	1	151	1	0	0	0	0	0	0	0	1	14845	933	33	3		3	SNED1	2	242004746	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	8609986	242004746	1194627	21	10369											
SLC4A7	9497	broad.mit.edu	37	chr3	27478926	27478926	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccatctctgtaacacagTtcatccatttccgtgaagag	10	13	6	12	1	3	2	1	1	2	1	7	2	5	2	3	0	1	2	3	0	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:27478926T>G	ENST00000295736.5	-	4	424	c.354A>C	c.(352-354)gaA>gaC	p.E118D	SLC4A7_ENST00000437179.1_Missense_Mutation_p.E123D|SLC4A7_ENST00000454389.1_Missense_Mutation_p.E127D|SLC4A7_ENST00000425128.2_Missense_Mutation_p.E123D|SLC4A7_ENST00000446700.1_Missense_Mutation_p.E123D|SLC4A7_ENST00000428386.1_Missense_Mutation_p.E118D|SLC4A7_ENST00000455077.1_Missense_Mutation_p.E123D|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.E127D|SLC4A7_ENST00000440156.1_Missense_Mutation_p.E127D|SLC4A7_ENST00000445684.1_Missense_Mutation_p.E127D	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	118					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGTAACACAGTTCATCCATTT	0.373																																						uc011aww.2																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(379-381)gaA>gaC		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.							152	153	153					3																	27478926		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27478926T>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.354A>C	3.37:g.27478926T>G	ENSP00000295736:p.Glu118Asp					SLC4A7_uc011awx.2_Missense_Mutation_p.E127D|SLC4A7_uc021wun.1_Missense_Mutation_p.E127D|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.E123D|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.E123D|SLC4A7_uc011axb.2_Missense_Mutation_p.E127D|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.E123D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdv.3_Missense_Mutation_p.E118D|SLC4A7_uc003cdw.3_Missense_Mutation_p.E118D	p.E127D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			3	602	-			118					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.381A>C	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441105	0.83993	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.73	-4.59	0.03400	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	M	0.88775	2.98	0.50813	D	0.999896	B;D;B;P;D;D;D;D;D	0.64830	0.125;0.989;0.234;0.507;0.994;0.968;0.994;0.994;0.989	B;P;B;B;D;P;D;D;P	0.70716	0.075;0.868;0.101;0.129;0.97;0.895;0.938;0.97;0.868	D	0.88696	0.3212	10	0.72032	D	0.01	.	12.9134	0.58192	0.0:0.5226:0.0:0.4774	.	127;123;123;127;127;123;118;118;123	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	D	118;118;127;127;123;123;123;127;127;123;118	ENSP00000295736:E118D;ENSP00000416368:E118D;ENSP00000390394:E127D;ENSP00000414797:E127D;ENSP00000394252:E123D;ENSP00000406605:E123D;ENSP00000407382:E123D;ENSP00000406804:E127D;ENSP00000395336:E127D;ENSP00000401949:E123D;ENSP00000388703:E118D	ENSP00000295736:E118D	E	-	3	2	SLC4A7	27453930	0.997000	0.39634	0.812000	0.32479	0.987000	0.75469	0.449000	0.21744	-1.112000	0.02984	0.397000	0.26171	GAA		0.373	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		G	27478926	T	G	27478926	3	3	151	1	0	0	0	0	1	0	0	0	14658	1722	60	5	3378	5	SLC4A7	3	27478926	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08		27478926	170543504	22	10370											
COL6A5	256076	broad.mit.edu	37	chr3	130159541	130159541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttctctgggctctacacGtaaggatgacatggaggagt	10	11	13	7	1	2	1	0	1	2	0	3	5	2	4	0	4	1	2	0	4	2	3	rs146634521	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:130159541G>A	ENST00000432398.2	+	35	6853	c.6359G>A	c.(6358-6360)cGt>cAt	p.R2120H	COL6A5_ENST00000265379.6_Missense_Mutation_p.R2120H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2120	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGCTCTACACGTAAGGATGAC	0.408													G|||	2	0.000399361	0.0015	0	5008	,	,		17728	0		0	False		,,,				2504	0					uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6358-6360)cGt>cAt		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.		G	HIS/ARG	0,3878		0,0,1939	104	100	101		6359	-7.9	0	3	dbSNP_134	101	1,8281		0,1,4140	no	missense	COL6A5	NM_153264.5	29	0,1,6079	AA,AG,GG		0.0121,0.0,0.0082	benign	2120/2527	130159541	1,12159	1939	4141	6080	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159541G>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6359G>A	3.37:g.130159541G>A	ENSP00000390895:p.Arg2120His					COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H	p.R2120H	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			34	6853	+			2120			Nonhelical region.|VWFA 9.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6359G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.938	-0.444420	0.04604	0.0	1.21E-4	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157	D;D;T	0.83163	-1.69;-1.69;2.56	5.65	-7.95	0.01148	von Willebrand factor, type A (3);	1.720190	0.03015	N	0.149901	T	0.55386	0.1917	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.53365	-0.8449	10	0.14656	T	0.56	.	7.7923	0.29127	0.3947:0.2973:0.3081:0.0	.	2120;2120	A8TX70;A8TX70-2	CO6A5_HUMAN;.	H	2120;2120;63	ENSP00000390895:R2120H;ENSP00000265379:R2120H;ENSP00000362250:R63H	ENSP00000265379:R2120H	R	+	2	0	COL6A5	131642231	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.186000	0.03070	-1.288000	0.02378	-2.070000	0.00385	CGT		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130159541	G	A	130159541	3	1	151	1	0	0	0	0	1	0	0	0	3702	1145	40	1	6493	1	COL6A5	3	130159541	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	102680615	130159541	67862889	23	10371											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.353_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	A	178917478	G	A	178917478	5	1	151	1	0	0	0	0	0	0	1	0	11913	1275	44	3	359	3	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-16-1048-01B-01D-1353-08	48757937	178917478	19104952	24	10372											
GABRA4	2557	broad.mit.edu	37	chr4	46930475	46930475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcttgatccaaacaCgtgacgagtagaagcagatc	13	8	10	10	2	1	4	0	2	1	2	3	5	2	4	1	0	3	3	1	0	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:46930475C>T	ENST00000264318.3	-	9	2414	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	478					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATCCAAACACGTGACGAGTA	0.488																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1432-1434)Gtg>Atg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						133	122	126					4																	46930475		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930475C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1432G>A	4.37:g.46930475C>T	ENSP00000264318:p.Val478Met					GABRA4_uc021xnz.1_Missense_Mutation_p.V459M|GABRA4_uc021xoa.1_Missense_Mutation_p.V408M	p.V478M	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	2415	-			478					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1432G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	6.105	0.387709	0.11581	.	.	ENSG00000109158	ENST00000264318	T	0.80214	-1.35	5.82	2.21	0.28008	Neurotransmitter-gated ion-channel transmembrane domain (2);	20.494100	0.00166	N	0.000000	T	0.73505	0.3595	L	0.29908	0.895	0.09310	N	1	P	0.49358	0.923	B	0.43838	0.433	T	0.60146	-0.7320	10	0.46703	T	0.11	.	4.3691	0.11239	0.2855:0.4921:0.0:0.2223	.	478	P48169	GBRA4_HUMAN	M	478	ENSP00000264318:V478M	ENSP00000264318:V478M	V	-	1	0	GABRA4	46625232	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.843000	0.27640	0.101000	0.17610	-0.864000	0.03007	GTG		0.488	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46930475	C	T	46930475	3	4	151	1	0	0	0	0	1	0	0	0	6163	536	19	1	236	1	GABRA4	4	46930475	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		46930475	144223801	25	10373											
C4orf35	85438	broad.mit.edu	37	chr4	71201240	71201240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcaataacctctgaaGtctctggcacactaaaggac	14	9	7	11	0	3	2	1	1	3	1	5	3	3	3	1	2	1	1	1	2	5	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:71201240G>A	ENST00000273936.5	+	1	558	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	162					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACCTCTGAAGTCTCTGGCAC	0.413																																						uc003hff.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(484-486)Gtc>Atc		Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.							55	58	57					4																	71201240		2201	4298	6499	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201240G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.484G>A	4.37:g.71201240G>A	ENSP00000273936:p.Val162Ile					CABS1_uc021xoz.1_Missense_Mutation_p.V162I	p.V162I	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			0	570	+			162					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.484G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639350	0.29157	.	.	ENSG00000145309	ENST00000273936	T	0.24350	1.86	4.16	1.43	0.22495	.	0.910431	0.09048	N	0.856216	T	0.14917	0.0360	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.33317	-0.9873	10	0.27785	T	0.31	-27.3367	2.4573	0.04532	0.1063:0.1906:0.5062:0.1968	.	162	Q96KC9	CABS1_HUMAN	I	162	ENSP00000273936:V162I	ENSP00000273936:V162I	V	+	1	0	CABS1	71235829	0.954000	0.32549	0.329000	0.25429	0.009000	0.06853	0.306000	0.19279	0.287000	0.22375	0.655000	0.94253	GTC		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		A	71201240	G	A	71201240	3	1	151	1	0	0	0	0	1	0	0	0	2265	1029	36	3	486	3	C4orf35	4	71201240	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	24270765	71201240	119953036	26	10374											
SEC24B	10427	broad.mit.edu	37	chr4	110384778	110384778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggatccctggctgtagcGaacaacaacccaaccattac	14	6	7	14	1	0	0	0	0	0	0	1	2	1	1	3	2	6	2	3	2	6	2	rs374995428		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:110384778G>A	ENST00000265175.5	+	2	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_ENST00000504968.2_Silent_p.A316A|SEC24B_ENST00000399100.2_Silent_p.A285A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	285					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413																																						uc003hzk.3																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(853-855)gcG>gcA		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.		G	,	0,4080		0,0,2040	69	70	70		855,855	0	0	4		70	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous	SEC24B	NM_001042734.1,NM_006323.2	,	0,1,6249	AA,AG,GG		0.0119,0.0,0.0080	,	285/1234,285/1269	110384778	1,12499	2040	4210	6250	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384778G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.855G>A	4.37:g.110384778G>A						SEC24B_uc003hzl.3_Silent_p.A285A|SEC24B_uc011cfp.2_Silent_p.A316A|SEC24B_uc011cfq.2_Silent_p.A285A|SEC24B_uc011cfr.2_Silent_p.A285A	p.A285A	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	1	910	+		Hepatocellular(203;0.217)	285					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.855G>A	CCDS47124.1																																																																																				0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			A	110384778	G	A	110384778	2	1	151	1	0	0	0	0	0	0	0	1	13995	1045	37	2		2	SEC24B	4	110384778	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	39183538	110384778	80769498	27	10375											
NAF1	92345	broad.mit.edu	37	chr4	164050096	164050096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actatctccagaagagggtgGaggaggcagtggtggagggg	10	6	20	5	0	1	2	0	0	1	2	2	5	1	5	1	8	0	1	1	8	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:164050096G>C	ENST00000274054.2	-	8	1631	c.1438C>G	c.(1438-1440)Cca>Gca	p.P480A	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	480	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAgagggtggaggaggcagt	0.458																																						uc003iqj.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1438-1440)Cca>Gca		Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.							15	17	16					4																	164050096		2183	4274	6457	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050096G>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1438C>G	4.37:g.164050096G>C	ENSP00000274054:p.Pro480Ala					NAF1_uc010iqw.1_Intron	p.P480A	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			7	1632	-	all_hematologic(180;0.166)	Prostate(90;0.109)	480			Pro-rich.		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1438C>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599318	0.13939	.	.	ENSG00000145414	ENST00000274054	T	0.32988	1.43	3.73	2.88	0.33553	.	1.173640	0.06298	N	0.700433	T	0.24236	0.0587	L	0.32530	0.975	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.21518	-1.0243	10	0.37606	T	0.19	-1.5799	7.267	0.26235	0.1198:0.0:0.8802:0.0	.	480	Q96HR8	NAF1_HUMAN	A	480	ENSP00000274054:P480A	ENSP00000274054:P480A	P	-	1	0	NAF1	164269546	0.308000	0.24509	0.003000	0.11579	0.571000	0.35966	3.004000	0.49513	1.145000	0.42336	0.655000	0.94253	CCA		0.458	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		C	164050096	G	C	164050096	3	2	151	1	0	0	0	0	1	0	0	0	10140	1174	41	5	191	5	NAF1	4	164050096	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	53665318	164050096	27104180	28	10376											
PALLD	23022	broad.mit.edu	37	chr4	169433085	169433085	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgaaaggctgaaaagcgtGgtgcaaaaactcccagcaca	15	5	10	11	2	0	1	0	1	0	0	2	2	2	1	2	2	4	3	2	2	5	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:169433085G>A	ENST00000335742.7	+	0	641				PALLD_ENST00000505667.1_Missense_Mutation_p.G144S|PALLD_ENST00000261509.6_Missense_Mutation_p.G144S|PALLD_ENST00000333488.4_Missense_Mutation_p.G21S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein						cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.G144R(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAAAAGCGTGGTGCAAAAAC	0.512									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.2																			1	Substitution - Missense(1)	p.G144R(2)	lung(1)	breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(430-432)Ggt>Agt		Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.							43	50	47					4																	169433085		2203	4300	6503			23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433085G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000335742.7:c.-717G>A	4.37:g.169433085G>A						PALLD_uc003iru.3_Missense_Mutation_p.G144S	p.G144S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	1	641	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	144					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000335742.7	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	G	10.19	1.281237	0.23392	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63096	0.07;0.34;-0.02;0.02	5.55	1.93	0.25924	.	0.249710	0.20558	N	0.089970	T	0.47469	0.1447	L	0.41236	1.265	0.09310	N	0.999992	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.29119	-1.0022	10	0.26408	T	0.33	.	7.6858	0.28540	0.1977:0.1182:0.6842:0.0	.	144;144	B7ZMM5;B2RTX2	.;.	S	144;144;123;21	ENSP00000261509:G144S;ENSP00000425556:G144S;ENSP00000423063:G123S;ENSP00000328945:G21S	ENSP00000261509:G144S	G	+	1	0	PALLD	169669660	0.022000	0.18835	0.000000	0.03702	0.014000	0.08584	1.912000	0.39946	0.049000	0.15920	-0.216000	0.12614	GGT		0.512	PALLD-202	KNOWN	basic	protein_coding	protein_coding		NM_016081		A	169433085	G	A	169433085	1	1	151	1	0	1	0	0	0	0	0	0	11407	1348	47	3		3	PALLD	4	169433085	De_novo_Start_OutOfFrame	SNP	G	TCGA-16-1048-01B-01D-1353-08	5382989	169433085	21721191	29	10377											
LRP2BP	55805	broad.mit.edu	37	chr4	186299262	186299262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctttttccactggaaaaAtttttggtttttagcagcat	9	19	6	7	0	0	0	0	0	0	0	2	1	2	1	2	2	2	3	2	2	3	8	rs550850724		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:186299262A>C	ENST00000328559.7	-	1	890	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	LRP2BP_ENST00000505916.1_Missense_Mutation_p.F27V|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Missense_Mutation_p.F27V|LRP2BP_ENST00000510776.1_5'UTR	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	27						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CACTGGAAAAATTTTTGGTTT	0.378																																						uc003ixj.2																			0		p.F27F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(79-81)Ttt>Gtt		Homo sapiens LRP2 binding protein (LRP2BP), mRNA.							138	140	139					4																	186299262		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186299262A>C	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.79T>G	4.37:g.186299262A>C	ENSP00000332681:p.Phe27Val					LRP2BP_uc003ixk.2_5'UTR|LRP2BP_uc021xvi.1_Non-coding_Transcript	p.F27V	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	0	891	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	27					A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.79T>G	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	A	1.500	-0.552330	0.03996	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000505916;ENST00000511404	T;T;T	0.42900	0.97;0.96;0.96	4.96	-9.92	0.00455	.	1.503290	0.03427	N	0.207110	T	0.21718	0.0523	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06917	-1.0800	10	0.17832	T	0.49	0.0873	4.684	0.12748	0.2029:0.2271:0.4591:0.1109	.	27	Q9P2M1	LR2BP_HUMAN	V	27	ENSP00000354846:F27V;ENSP00000332681:F27V;ENSP00000426203:F27V	ENSP00000332681:F27V	F	-	1	0	LRP2BP	186536256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.205000	0.01232	-2.191000	0.00756	-2.178000	0.00318	TTT		0.378	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		C	186299262	A	C	186299262	3	2	151	1	0	0	0	0	1	0	0	0	8957	101	4	5	996	5	LRP2BP	4	186299262	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	16866177	186299262	4855014	30	10378											
MARVELD2	153562	broad.mit.edu	37	chr5	68737366	68737366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcttttacaggatcctaCatttctggaaaaaaaagaac	16	13	5	7	0	2	1	0	0	2	1	3	3	3	3	1	2	3	0	1	2	7	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:68737366C>T	ENST00000325631.5	+	7	1636	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	MARVELD2_ENST00000413223.2_Missense_Mutation_p.T405I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	521					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGGATCCTACATTTCTGGAA	0.318																																						uc003jwq.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1561-1563)aCa>aTa		Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.							40	42	41					5																	68737366		2196	4297	6493	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68737366C>T	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1562C>T	5.37:g.68737366C>T	ENSP00000323264:p.Thr521Ile					MARVELD2_uc010ixf.3_Missense_Mutation_p.T509I|MARVELD2_uc003jws.1_Non-coding_Transcript	p.T521I	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	6	1636	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	521					A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.1562C>T	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587617	0.86851	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000436532;ENST00000413223	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.68	5.68	0.88126	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.266251	0.41938	D	0.000789	T	0.47911	0.1471	M	0.65975	2.015	0.51482	D	0.999925	P;D	0.56968	0.745;0.978	P;P	0.59703	0.549;0.862	T	0.39014	-0.9634	10	0.56958	D	0.05	-27.9407	18.5702	0.91132	0.0:1.0:0.0:0.0	.	509;521	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	I	521;509;405;405	ENSP00000323264:T521I;ENSP00000396244:T509I;ENSP00000414776:T405I;ENSP00000398922:T405I	ENSP00000323264:T521I	T	+	2	0	MARVELD2	68773122	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.648000	0.67930	2.687000	0.91594	0.563000	0.77884	ACA		0.318	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		T	68737366	C	T	68737366	3	4	151	1	0	0	0	0	1	0	0	0	9318	478	17	3	1584	3	MARVELD2	5	68737366	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		68737366	112177894	31	10379											
FBN2	2201	broad.mit.edu	37	chr5	127728993	127728993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcccccagtgcctccagGtctggaaccagcactccctg	7	9	8	17	0	1	0	0	0	1	0	4	1	4	1	6	2	3	1	6	2	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:127728993G>T	ENST00000508053.1	-	16	2274	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FBN2_ENST00000508989.1_Missense_Mutation_p.P401T|FBN2_ENST00000262464.4_Missense_Mutation_p.P434T			P35556	FBN2_HUMAN	fibrillin 2	434					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGCCTCCAGGTCTGGAACCA	0.532																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1300-1302)Cct>Act		Homo sapiens fibrillin 2 (FBN2), mRNA.							80	72	75					5																	127728993		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728993G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1300C>A	5.37:g.127728993G>T	ENSP00000424571:p.Pro434Thr					FBN2_uc003kuv.2_Missense_Mutation_p.P401T	p.P434T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1739	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	434					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1300C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693301	0.30052	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.86562	-1.91;-1.91;-2.14	3.98	3.98	0.46160	.	0.277986	0.29594	N	0.011704	T	0.72684	0.3491	N	0.08118	0	0.31320	N	0.686117	B;B	0.22003	0.063;0.035	B;B	0.17098	0.017;0.012	T	0.68096	-0.5499	10	0.22109	T	0.4	.	12.3753	0.55277	0.0:0.0:0.8321:0.1679	.	401;434	D6RJI3;P35556	.;FBN2_HUMAN	T	434;434;401	ENSP00000262464:P434T;ENSP00000424571:P434T;ENSP00000425596:P401T	ENSP00000262464:P434T	P	-	1	0	FBN2	127756892	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.974000	0.40559	2.505000	0.84491	0.563000	0.77884	CCT		0.532	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127728993	G	T	127728993	3	4	151	1	0	0	0	0	1	0	0	0	5703	1261	44	5	7662	5	FBN2	5	127728993	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	58991627	127728993	53186267	32	10380											
PDLIM4	8572	broad.mit.edu	37	chr5	131607724	131607724	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccccatcaggggcacCatcgtcaaggcacgggacaa	10	5	11	15	2	2	0	2	0	0	0	4	1	3	1	4	4	0	3	4	4	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:131607724C>G	ENST00000253754.3	+	7	859	c.795C>G	c.(793-795)acC>acG	p.T265T	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.P226R	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	265	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGGGCACCATCGTCAAGG	0.617																																						uc003kwo.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10						c.(1117-1119)acC>acG		Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.							124	89	101					5																	131607724		2203	4300	6503	SO:0001819	synonymous_variant	8572						protein binding|zinc ion binding	g.chr5:131607724C>G	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.795C>G	5.37:g.131607724C>G						BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.T265T|PDLIM4_uc003kwp.3_Missense_Mutation_p.P226R	p.T373T	NM_003687	NP_003678	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1196	+			265					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	c.1119C>G	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746972	0.15710	.	.	ENSG00000131435	ENST00000379018	T	0.23147	1.92	5.05	0.766	0.18476	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.23978	N	0.996288	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.19147	T	0.46	-16.463	5.7471	0.18126	0.1721:0.5514:0.2004:0.076	.	226	P50479-2	.	R	226	ENSP00000368303:P226R	ENSP00000368303:P226R	P	+	2	0	PDLIM4	131635623	0.011000	0.17503	1.000000	0.80357	0.952000	0.60782	-0.900000	0.04097	0.490000	0.27771	0.655000	0.94253	CCA		0.617	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		G	131607724	C	G	131607724	2	3	151	1	0	0	0	0	0	0	0	1	11682	594	21	5		5	PDLIM4	5	131607724	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	3878731	131607724	49307536	33	10381											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774290	140774290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctgctggacagagatgCgctcaagcagagcctcgtgg	9	6	14	12	2	1	2	1	0	0	2	2	4	1	3	2	2	5	3	2	2	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:140774290C>T	ENST00000398604.2	+	1	1910	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A637E(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCGCTCAAGCAG	0.682																																						uc003lkd.2																			1	Substitution - Missense(1)	p.A637E(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1909-1911)gCg>gTg		Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.							29	34	32					5																	140774290		2189	4276	6465	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774290C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1910C>T	5.37:g.140774290C>T	ENSP00000381605:p.Ala637Val					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.A637V|PCDHGC5_uc003lkc.2_Intron	p.A637V	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2808	+			639			Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1910C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822443	0.32237	.	.	ENSG00000253767	ENST00000398604	T	0.51817	0.69	5.02	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.000000	0.31010	U	0.008440	T	0.28466	0.0704	N	0.17379	0.485	0.09310	N	1	B;B	0.27853	0.113;0.191	B;B	0.26693	0.072;0.063	T	0.20306	-1.0279	10	0.62326	D	0.03	.	8.8079	0.34950	0.0:0.628:0.0:0.372	.	637;637	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	637	ENSP00000381605:A637V	ENSP00000381605:A637V	A	+	2	0	PCDHGA8	140754474	0.000000	0.05858	0.003000	0.11579	0.993000	0.82548	-0.231000	0.09069	0.192000	0.20272	0.650000	0.86243	GCG		0.682	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		T	140774290	C	T	140774290	3	4	151	1	0	0	0	0	1	0	0	0	11560	768	27	1	1912	1	PCDHGA8	5	140774290	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	9166566	140774290	40140970	34	10382											
DSP	1832	broad.mit.edu	37	chr6	7580369	7580369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaagcagtccctggaggagGctgccaagaccattcaggac	12	5	12	12	0	1	1	1	0	0	1	2	4	2	4	3	4	2	2	3	4	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:7580369G>A	ENST00000379802.3	+	23	4287	c.3946G>A	c.(3946-3948)Gct>Act	p.A1316T	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1316	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGAGGAGGCTGCCAAGAC	0.512																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3946-3948)Gct>Act		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							72	76	74					6																	7580369		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580369G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3946G>A	6.37:g.7580369G>A	ENSP00000369129:p.Ala1316Thr					DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.A1316T	p.A1316T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	4225	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1316			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3946G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539517	0.65085	.	.	ENSG00000096696	ENST00000379802	T	0.71103	-0.54	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000014	T	0.71702	0.3371	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.67417	-0.5676	10	0.25106	T	0.35	.	18.5529	0.91072	0.0:0.0:1.0:0.0	.	1316	P15924	DESP_HUMAN	T	1316	ENSP00000369129:A1316T	ENSP00000369129:A1316T	A	+	1	0	DSP	7525368	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.561000	0.53770	2.495000	0.84180	0.552000	0.68991	GCT		0.512	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7580369	G	A	7580369	3	1	151	1	0	0	0	0	1	0	0	0	4781	1203	42	3	4036	3	DSP	6	7580369	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		7580369	163534698	35	10383											
COL11A2	1302	broad.mit.edu	37	chr6	33137189	33137189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggccatcatcgcctgTggggcctttaggccctggtg	3	12	15	11	1	1	0	1	0	0	0	2	0	1	0	4	6	0	0	4	6	1	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:33137189T>C	ENST00000374708.4	-	49	3769	c.3511A>G	c.(3511-3513)Aca>Gca	p.T1171A	COL11A2_ENST00000374713.1_Missense_Mutation_p.T1210A|COL11A2_ENST00000374714.1_Missense_Mutation_p.T1231A|COL11A2_ENST00000357486.1_Missense_Mutation_p.T1236A|COL11A2_ENST00000361917.1_Missense_Mutation_p.T1150A|COL11A2_ENST00000395197.1_Missense_Mutation_p.T1197A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Missense_Mutation_p.T1257A|COL11A2_ENST00000374712.1_Missense_Mutation_p.T1176A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1257	Collagen-like 7.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCATCGCCTGTGGGGCCTTTA	0.627																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3769-3771)Aca>Gca		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							50	45	47					6																	33137189		1510	2707	4217	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137189T>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3511A>G	6.37:g.33137189T>C	ENSP00000363840:p.Thr1171Ala					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A	p.T1257A	NM_080680	NP_542411	P13942	COBA2_HUMAN			50	3997	-			1257	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).		Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3769A>G	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329976	0.24167	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96104	-3.21;-3.91;-3.91;-3.91;-3.21;-3.21;-3.21;-3.21	4.88	3.72	0.42706	.	0.283033	0.33572	N	0.004764	T	0.75309	0.3832	N	0.03967	-0.31	0.38429	D	0.946397	B;B;B	0.28291	0.122;0.206;0.131	B;B;B	0.21917	0.037;0.037;0.024	T	0.71955	-0.4436	10	0.31617	T	0.26	.	5.1154	0.14831	0.0:0.0934:0.182:0.7247	.	1150;1171;1257	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	A	1171;1257;1236;1231;1210;1197;1176;1150	ENSP00000363840:T1171A;ENSP00000339915:T1257A;ENSP00000350079:T1236A;ENSP00000363846:T1231A;ENSP00000363845:T1210A;ENSP00000378623:T1197A;ENSP00000363844:T1176A;ENSP00000355123:T1150A	ENSP00000339915:T1257A	T	-	1	0	COL11A2	33245167	0.994000	0.37717	0.974000	0.42286	0.486000	0.33341	1.619000	0.36965	0.900000	0.36469	-0.463000	0.05309	ACA		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			C	33137189	T	C	33137189	3	2	151	1	0	0	0	0	1	0	0	0	3668	1696	59	4	1505	4	COL11A2	6	33137189	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	25556820	33137189	137977878	36	10384											
KCNK17	89822	broad.mit.edu	37	chr6	39272395	39272395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagatgcagaagaggCgggcagccatcgtgttgggg	12	5	17	7	2	0	4	0	0	0	4	1	4	0	4	1	4	2	3	1	4	3	1	rs142227833		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:39272395C>T	ENST00000373231.4	-	3	621	c.389G>A	c.(388-390)cGc>cAc	p.R130H	KCNK17_ENST00000453413.2_Missense_Mutation_p.R130H	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	130					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R130L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGAAGAGGCGGGCAGCCAT	0.612																																						uc003ooo.3																			2	Substitution - Missense(2)	p.R130L(3)	lung(2)	endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(388-390)cGc>cAc		Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	141	142	142		389,389	4	1	6	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	130/272,130/333	39272395	3,13003	2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272395C>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.389G>A	6.37:g.39272395C>T	ENSP00000362328:p.Arg130His					KCNK17_uc003oop.3_Missense_Mutation_p.R130H	p.R130H	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			2	530	-			130					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.389G>A	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061379	0.76187	4.54E-4	1.16E-4	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.41065	1.01;1.01	4.87	3.99	0.46301	Ion transport 2 (1);	0.111955	0.38164	N	0.001798	T	0.49626	0.1568	M	0.82132	2.575	0.29186	N	0.876185	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	T	0.51084	-0.8750	10	0.87932	D	0	.	7.9952	0.30265	0.0:0.8077:0.0:0.1923	.	130;130	E9PB46;Q96T54	.;KCNKH_HUMAN	H	130	ENSP00000362328:R130H;ENSP00000401271:R130H	ENSP00000362328:R130H	R	-	2	0	KCNK17	39380373	0.922000	0.31269	0.994000	0.49952	0.908000	0.53690	1.535000	0.36061	1.007000	0.39238	0.561000	0.74099	CGC		0.612	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		T	39272395	C	T	39272395	3	4	151	1	0	0	0	0	1	0	0	0	8064	768	27	1	753	1	KCNK17	6	39272395	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	6135206	39272395	131842672	37	10385											
PTK7	5754	broad.mit.edu	37	chr6	43109453	43109453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaacgctgggaccctgCattttgcccgggtgactcga	8	8	12	13	3	0	2	0	1	0	1	1	4	0	3	2	2	3	2	2	2	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:43109453C>T	ENST00000230419.4	+	11	1887	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	PTK7_ENST00000481273.1_Missense_Mutation_p.H564Y|PTK7_ENST00000349241.2_Missense_Mutation_p.H426Y|PTK7_ENST00000352931.2_Missense_Mutation_p.H556Y|PTK7_ENST00000345201.2_Missense_Mutation_p.H516Y	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	556	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGGACCCTGCATTTTGCCCG	0.582																																						uc011dve.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1690-1692)Cat>Tat		Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.							144	141	142					6																	43109453		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109453C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1666C>T	6.37:g.43109453C>T	ENSP00000230419:p.His556Tyr					PTK7_uc003oub.1_Missense_Mutation_p.H556Y|PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	p.H564Y	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		10	1732	+			556			Ig-like C2-type 6.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1690C>T	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272732	0.59649	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.27402	1.67;2.75;1.67;2.75;1.67	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.338942	0.33732	N	0.004603	T	0.20618	0.0496	N	0.22421	0.69	0.46416	D	0.99903	B;P;P;D;B	0.56521	0.11;0.951;0.883;0.976;0.1	B;P;P;P;B	0.56127	0.145;0.792;0.685;0.792;0.098	T	0.02202	-1.1196	10	0.23891	T	0.37	.	12.6339	0.56673	0.0:0.9135:0.0:0.0865	.	564;426;516;556;556	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	Y	556;426;556;516;564	ENSP00000230419:H556Y;ENSP00000325462:H426Y;ENSP00000326029:H556Y;ENSP00000325992:H516Y;ENSP00000418754:H564Y	ENSP00000230418:H556Y	H	+	1	0	PTK7	43217431	1.000000	0.71417	0.990000	0.47175	0.635000	0.38103	2.662000	0.46766	2.440000	0.82611	0.561000	0.74099	CAT		0.582	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			T	43109453	C	T	43109453	3	4	151	1	0	0	0	0	1	0	0	0	12765	710	25	3	1708	3	PTK7	6	43109453	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	3837058	43109453	128005614	38	10386											
TINAG	27283	broad.mit.edu	37	chr6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaagatggttttaaatttCgccttggcactttgccacct	9	15	8	9	1	0	2	0	0	0	2	1	2	0	2	3	2	1	2	3	2	4	6	rs115438249	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																						uc003pcj.2																			1	Substitution - Missense(1)	p.R191C(2)|p.R191H(1)|p.R191L(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(571-573)Cgc>Tgc		Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139	126	131		571	5.8	1	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191661C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys					TINAG_uc010jzt.2_Non-coding_Transcript	p.R191C	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		3	717	+	Lung NSC(77;0.0518)		191					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.571C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		T	54191661	C	T	54191661	3	4	151	1	0	0	0	0	1	0	0	0	15918	884	31	2	585	2	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	11082208	54191661	116923406	39	10387											
TINAG	27283	broad.mit.edu	37	chr6	54254704	54254704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttggggccaactgaCgagttctgatgaaccataac	11	8	11	11	2	1	3	0	3	1	0	1	4	1	3	2	2	4	3	2	2	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54254704C>T	ENST00000259782.4	+	11	1508	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGCCAACTGACGAGTTCTGAT	0.403																																						uc003pcj.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1411-1413)aCg>aTg		Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.							128	126	127					6																	54254704		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254704C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1412C>T	6.37:g.54254704C>T	ENSP00000259782:p.Thr471Met					TINAG_uc010jzt.2_Non-coding_Transcript	p.T471M	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		10	1558	+	Lung NSC(77;0.0518)		471					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1412C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184949	0.78677	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	T	0.66460	-0.21	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000009	T	0.67496	0.2899	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.70160	-0.4948	10	0.59425	D	0.04	.	15.4234	0.75031	0.0:1.0:0.0:0.0	.	471	Q9UJW2	TINAG_HUMAN	M	330;471;150	ENSP00000259782:T471M	ENSP00000259782:T471M	T	+	2	0	TINAG	54362663	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.229000	0.58625	2.704000	0.92352	0.591000	0.81541	ACG		0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		T	54254704	C	T	54254704	3	4	151	1	0	0	0	0	1	0	0	0	15918	536	19	1	1454	1	TINAG	6	54254704	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	63043	54254704	116860363	40	10388											
RIMS1	22999	broad.mit.edu	37	chr6	72993805	72993805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagactaggaaaggcactGcctctgatgcagaaaggtag	15	6	12	8	0	1	3	0	1	1	2	1	4	1	4	1	3	3	3	1	3	5	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:72993805G>T	ENST00000521978.1	+	24	3538	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.A547S|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Missense_Mutation_p.A481S|RIMS1_ENST00000538414.1_Missense_Mutation_p.A37S|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.A561S|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000518273.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1180					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAAGGCACTGCCTCTGATGC	0.398																																						uc003pga.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3538-3540)Gcc>Tcc		Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.							127	128	128					6																	72993805		1960	4152	6112	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72993805G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3538G>T	6.37:g.72993805G>T	ENSP00000428417:p.Ala1180Ser					RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Missense_Mutation_p.A561S|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Missense_Mutation_p.A481S|RIMS1_uc011dyd.2_Missense_Mutation_p.A547S|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Missense_Mutation_p.A37S|RIMS1_uc011dyf.2_Missense_Mutation_p.A37S	p.A1180S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			23	3615	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1180					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3538G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	8.803	0.933348	0.18131	.	.	ENSG00000079841	ENST00000521978;ENST00000401910;ENST00000425662;ENST00000517827;ENST00000538414	T;T;T;T;T	0.17691	2.59;2.67;2.64;2.62;2.26	5.81	4.05	0.47172	.	0.245131	0.28521	N	0.015055	T	0.03178	0.0093	L	0.32530	0.975	0.27650	N	0.947435	B;B;B;B;B	0.27229	0.005;0.0;0.0;0.0;0.172	B;B;B;B;B	0.22386	0.007;0.0;0.001;0.001;0.039	T	0.41431	-0.9509	10	0.02654	T	1	-1.7953	12.3146	0.54948	0.1362:0.0:0.8638:0.0	.	37;37;547;561;1180	B7Z6K9;B7Z7W2;B7Z3S3;E9PF48;Q86UR5	.;.;.;.;RIMS1_HUMAN	S	1180;561;481;547;37	ENSP00000428417:A1180S;ENSP00000385649:A561S;ENSP00000411235:A481S;ENSP00000428367:A547S;ENSP00000439730:A37S	ENSP00000385649:A561S	A	+	1	0	RIMS1	73050526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.785000	0.47782	0.825000	0.34637	0.460000	0.39030	GCC		0.398	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	72993805	G	T	72993805	3	4	151	1	0	0	0	0	1	0	0	0	13367	1319	46	5	3795	5	RIMS1	6	72993805	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	18739101	72993805	98121262	41	10389											
MAP3K7	6885	broad.mit.edu	37	chr6	91226312	91226312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaaggcttttgttttCatctaaaagctttttatgtt	11	19	7	4	0	2	1	1	0	1	1	2	1	2	1	0	1	1	5	0	1	5	10			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:91226312C>A	ENST00000369329.3	-	17	1890	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	MAP3K7_ENST00000369332.3_Nonsense_Mutation_p.E550*|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_Nonsense_Mutation_p.E231*	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	577					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTTGTTTTCATCTAAAAGC	0.408																																						uc003pnz.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1729-1731)Gaa>Taa		Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.							150	141	144					6																	91226312		2203	4300	6503	SO:0001587	stop_gained	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91226312C>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1729G>T	6.37:g.91226312C>A	ENSP00000358335:p.Glu577*					MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR	p.E577*	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	16	2034	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	577					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Nonsense_Mutation	SNP	ENST00000369329.3	37	c.1729G>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158823	0.98103	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	.	.	.	X	550;577;231	.	ENSP00000358326:E231X	E	-	1	0	MAP3K7	91283033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.688000	0.91661	0.655000	0.94253	GAA		0.408	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		A	91226312	C	A	91226312	4	1	151	1	0	0	0	0	0	1	0	0	9255	835	29	5	95	5	MAP3K7	6	91226312	Nonsense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	18232507	91226312	79888755	42	10390											
LAMA4	3910	broad.mit.edu	37	chr6	112496666	112496666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttccccataatagagCatcttgttgttgatctctga	8	16	7	10	0	3	3	0	2	3	1	5	3	4	3	2	0	2	4	2	0	2	6			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:112496666C>A	ENST00000230538.7	-	11	1603	c.1206G>T	c.(1204-1206)atG>atT	p.M402I	LAMA4_ENST00000522006.1_Missense_Mutation_p.M395I|LAMA4_ENST00000424408.2_Missense_Mutation_p.M395I|LAMA4_ENST00000389463.4_Missense_Mutation_p.M395I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	402	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAATAGAGCATCTTGTTGT	0.483																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1204-1206)atG>atT		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							119	120	120					6																	112496666		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496666C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1206G>T	6.37:g.112496666C>A	ENSP00000230538:p.Met402Ile					LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I	p.M402I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	10	1515	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	402			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1206G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866414	0.51588	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.71	5.71	0.89125	Laminin I (1);	0.140958	0.64402	D	0.000003	T	0.04227	0.0117	L	0.47716	1.5	0.80722	D	1	P;P	0.35656	0.514;0.458	B;B	0.32342	0.144;0.089	T	0.44174	-0.9345	10	0.18276	T	0.48	.	17.6287	0.88100	0.0:1.0:0.0:0.0	.	402;395	Q16363;Q16363-2	LAMA4_HUMAN;.	I	402;395;395;395	ENSP00000230538:M402I;ENSP00000429488:M395I;ENSP00000374114:M395I;ENSP00000416470:M395I	ENSP00000230538:M402I	M	-	3	0	LAMA4	112603359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.019000	0.49635	2.707000	0.92482	0.655000	0.94253	ATG		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112496666	C	A	112496666	3	1	151	1	0	0	0	0	1	0	0	0	8608	710	25	5	4381	5	LAMA4	6	112496666	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	21270354	112496666	58618401	43	10391											
DSE	29940	broad.mit.edu	37	chr6	116757126	116757126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctgcttttctccctggGtgggtcaggtcacagaagac	8	10	13	10	0	3	3	2	0	1	3	4	3	3	3	1	3	2	2	1	3	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:116757126G>A	ENST00000331677.3	+	7	1939	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	DSE_ENST00000537543.1_Missense_Mutation_p.V518M|DSE_ENST00000452085.3_Missense_Mutation_p.V499M|DSE_ENST00000359564.2_Missense_Mutation_p.V499M			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	499					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTCTCCCTGGGTGGGTCAGGT	0.483																																						uc011ebg.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1552-1554)Gtg>Atg		Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.							65	61	62					6																	116757126		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757126G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1495G>A	6.37:g.116757126G>A	ENSP00000332151:p.Val499Met					DSE_uc003pws.3_Missense_Mutation_p.V499M|DSE_uc003pwt.3_Missense_Mutation_p.V499M|DSE_uc003pwu.3_Missense_Mutation_p.V166M	p.V518M	NM_013352	NP_037484	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	5	1651	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	499					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1552G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264086	0.39995	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.79	5.79	0.91817	.	0.106297	0.64402	D	0.000004	T	0.04497	0.0123	N	0.08118	0	0.29922	N	0.822611	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.001	T	0.23655	-1.0182	10	0.56958	D	0.05	-14.6885	15.511	0.75782	0.0:0.1376:0.8624:0.0	.	518;499	B7Z765;Q9UL01	.;DSE_HUMAN	M	499;518;499;499	ENSP00000404049:V499M;ENSP00000441152:V518M;ENSP00000332151:V499M;ENSP00000352567:V499M	ENSP00000332151:V499M	V	+	1	0	DSE	116863819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.759000	0.85235	2.748000	0.94277	0.650000	0.86243	GTG		0.483	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		A	116757126	G	A	116757126	3	1	151	1	0	0	0	0	1	0	0	0	4774	1261	44	3	1513	3	DSE	6	116757126	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4260460	116757126	54357941	44	10392											
COL28A1	340267	broad.mit.edu	37	chr7	7412801	7412801	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacctctgtcagtttctcTttatcacgagaatctgtctg	8	15	6	12	1	6	1	2	0	4	1	7	2	6	1	2	0	0	1	2	0	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:7412801T>C	ENST00000399429.3	-	32	2876	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	912	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGTTTCTCTTTATCACGAG	0.443																																						uc003src.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2734-2736)aaA>aaG		Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.							101	96	97					7																	7412801		1932	4126	6058	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412801T>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2736A>G	7.37:g.7412801T>C						COL28A1_uc011jxe.1_Silent_p.K595K	p.K912K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	31	2853	-		Ovarian(82;0.0789)	912			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2736A>G	CCDS43553.1																																																																																				0.443	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7412801	T	C	7412801	2	2	151	1	0	0	0	0	0	0	0	1	3686	1606	56	4		4	COL28A1	7	7412801	Silent	SNP	T	TCGA-16-1048-01B-01D-1353-08		7412801	151725862	45	10393											
C7orf57	136288	broad.mit.edu	37	chr7	48081010	48081010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagatcccaggtctcagCaatttgggagactcacacag	11	8	9	13	0	2	2	2	0	1	2	5	3	4	2	2	2	1	1	2	2	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:48081010C>G	ENST00000348904.3	+	3	347	c.135C>G	c.(133-135)agC>agG	p.S45R	C7orf57_ENST00000430738.1_Missense_Mutation_p.S90R|C7orf57_ENST00000420324.1_Missense_Mutation_p.S90R|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.S45R	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537																																						uc003toh.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(133-135)agC>agG		Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.							51	54	53					7																	48081010		1923	4140	6063	SO:0001583	missense	136288							g.chr7:48081010C>G	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.135C>G	7.37:g.48081010C>G	ENSP00000335500:p.Ser45Arg					C7orf57_uc003toi.4_5'UTR	p.S45R	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			2	347	+			45					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.135C>G	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207241	0.39003	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.69	-2.74	0.05932	.	0.165408	0.52532	D	0.000065	T	0.64394	0.2594	M	0.83012	2.62	0.23848	N	0.996677	D	0.76494	0.999	D	0.71656	0.974	T	0.61647	-0.7020	10	0.72032	D	0.01	-8.204	12.1783	0.54198	0.0:0.355:0.0:0.645	.	45	Q8NEG2	CG057_HUMAN	R	90;90;45;45	ENSP00000394648:S90R;ENSP00000410944:S90R;ENSP00000335500:S45R;ENSP00000442474:S45R	ENSP00000335500:S45R	S	+	3	2	C7orf57	48047535	0.056000	0.20664	0.018000	0.16275	0.180000	0.23129	-0.209000	0.09358	-0.403000	0.07622	0.563000	0.77884	AGC		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		G	48081010	C	G	48081010	3	3	151	1	0	0	0	0	1	0	0	0	2404	709	25	5	141	5	C7orf57	7	48081010	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	40668209	48081010	111057653	46	10394											
EGFR	1956	broad.mit.edu	37	chr7	55221716	55221716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccataggtctgccgcaaaTtccgagacgaagccacgtgc	10	7	10	14	4	1	1	0	0	1	1	3	3	3	1	4	1	3	1	4	1	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:55221716T>A	ENST00000275493.2	+	7	937	c.760T>A	c.(760-762)Ttc>Atc	p.F254I	EGFR_ENST00000342916.3_Missense_Mutation_p.F254I|EGFR_ENST00000455089.1_Missense_Mutation_p.F209I|EGFR_ENST00000454757.2_Missense_Mutation_p.F201I|EGFR_ENST00000442591.1_Missense_Mutation_p.F254I|EGFR_ENST00000420316.2_Missense_Mutation_p.F254I|EGFR_ENST00000344576.2_Missense_Mutation_p.F254I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	254			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGCCGCAAATTCCGAGACGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)|p.F254F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(760-762)Ttc>Atc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						188	149	162					7																	55221716		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221716T>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.760T>A	7.37:g.55221716T>A	ENSP00000275493:p.Phe254Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.F254I|EGFR_uc003tqi.3_Missense_Mutation_p.F254I|EGFR_uc003tqj.3_Missense_Mutation_p.F254I|EGFR_uc022adm.1_Missense_Mutation_p.F254I|EGFR_uc010kzg.2_Missense_Mutation_p.F209I|EGFR_uc022adn.1_Missense_Mutation_p.F209I|EGFR_uc011kco.2_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.F254I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1006	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		254					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.760T>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018809	0.75275	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.68	5.68	0.88126	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.973;0.997;0.988;0.993;0.969	D	0.85069	0.0939	10	0.87932	D	0	.	14.7433	0.69472	0.0:0.0:0.0:1.0	.	209;254;254;254;254	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	I	209;254;124;254;254;254;254;201;48	ENSP00000415559:F209I;ENSP00000342376:F254I;ENSP00000345973:F254I;ENSP00000413843:F254I;ENSP00000275493:F254I;ENSP00000410031:F254I;ENSP00000395243:F201I	ENSP00000275493:F254I	F	+	1	0	EGFR	55189210	1.000000	0.71417	0.942000	0.38095	0.137000	0.21094	8.016000	0.88706	2.167000	0.68274	0.260000	0.18958	TTC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221716	T	A	55221716	3	1	151	1	0	0	0	0	1	0	0	0	4967	1493	52	5	786	5	EGFR	7	55221716	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	7140706	55221716	103916947	47	10395											
WBSCR17	64409	broad.mit.edu	37	chr7	71135089	71135089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaataataccgttgcttacGgggaggtaattcagaccgtg	12	10	11	8	3	1	1	1	0	0	1	1	2	1	2	2	3	3	3	2	3	5	6			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:71135089G>A	ENST00000333538.5	+	8	2033	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	467	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTGCTTACGGGGAGGTAAT	0.413																																						uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1399-1401)Ggg>Agg		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							208	202	204					7																	71135089		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135089G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1399G>A	7.37:g.71135089G>A	ENSP00000329654:p.Gly467Arg					WBSCR17_uc003tvz.3_Missense_Mutation_p.G166R	p.G467R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			7	1399	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	467			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1399G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622902	0.87460	.	.	ENSG00000185274	ENST00000333538	T	0.35605	1.3	5.04	5.04	0.67666	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76361	-0.2987	10	0.87932	D	0	.	17.3746	0.87389	0.0:0.0:1.0:0.0	.	467	Q6IS24	GLTL3_HUMAN	R	467	ENSP00000329654:G467R	ENSP00000329654:G467R	G	+	1	0	WBSCR17	70773025	1.000000	0.71417	0.980000	0.43619	0.715000	0.41141	9.869000	0.99810	2.346000	0.79739	0.591000	0.81541	GGG		0.413	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		A	71135089	G	A	71135089	3	1	151	1	0	0	0	0	1	0	0	0	17261	1116	39	2	1429	2	WBSCR17	7	71135089	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	15913373	71135089	88003574	48	10396											
SAMD9	54809	broad.mit.edu	37	chr7	92733048	92733048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggtacgtattcctgaCggttcattgccccataggtg	8	12	11	10	2	1	1	1	1	0	0	2	1	2	1	3	3	3	4	3	3	4	7			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:92733048C>T	ENST00000379958.2	-	3	2632	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	788						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTATTCCTGACGGTTCATTGC	0.378																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2362-2364)cGt>cAt		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							119	115	116					7																	92733048		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92733048C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2363G>A	7.37:g.92733048C>T	ENSP00000369292:p.Arg788His					SAMD9_uc003umg.3_Missense_Mutation_p.R788H|SAMD9_uc022ahg.1_Missense_Mutation_p.R788H	p.R788H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	2633	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		788					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2363G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.283237	0.00020	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.81579	-1.51;-1.51	4.44	3.17	0.36434	.	0.751666	0.11604	N	0.547485	T	0.45498	0.1345	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	10	0.19147	T	0.46	.	6.2536	0.20861	0.0:0.248:0.0:0.752	.	788	Q5K651	SAMD9_HUMAN	H	788	ENSP00000369292:R788H;ENSP00000414529:R788H	ENSP00000369292:R788H	R	-	2	0	SAMD9	92570984	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.031000	0.13710	0.583000	0.29574	-0.466000	0.05196	CGT		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92733048	C	T	92733048	3	4	151	1	0	0	0	0	1	0	0	0	13826	536	19	1	2410	1	SAMD9	7	92733048	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	21597959	92733048	66405615	49	10397											
TRIM56	81844	broad.mit.edu	37	chr7	100730794	100730794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagtgcctgtgccgccCgagggtgtggcctccttcaa	6	8	14	13	2	1	1	1	0	0	1	2	3	2	1	5	2	2	0	5	2	1	1	rs372986771		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:100730794C>T	ENST00000306085.6	+	3	498	c.201C>T	c.(199-201)ccC>ccT	p.P67P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	67					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGCCCGAGGGTGTGG	0.677																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(199-201)ccC>ccT		Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.							42	53	49					7																	100730794		2136	4244	6380	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730794C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.201C>T	7.37:g.100730794C>T						TRIM56_uc003uxr.3_Silent_p.P67P|TRIM56_uc022aiw.1_Silent_p.P67P	p.P67P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			2	432	+	Lung NSC(181;0.136)|all_lung(186;0.182)		67					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.201C>T	CCDS43625.1																																																																																				0.677	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		T	100730794	C	T	100730794	2	4	151	1	0	0	0	0	0	0	0	1	16527	639	23	2		2	TRIM56	7	100730794	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	7997746	100730794	58407869	50	10398											
RELN	5649	broad.mit.edu	37	chr7	103159906	103159906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatacatgaagtaaaattGgatgaactcagcattagtga	16	10	8	7	0	1	3	1	3	0	0	1	4	1	4	1	1	3	2	1	1	6	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:103159906G>T	ENST00000428762.1	-	49	7885	c.7726C>A	c.(7726-7728)Caa>Aaa	p.Q2576K	RELN_ENST00000343529.5_Missense_Mutation_p.Q2576K|RELN_ENST00000424685.2_Missense_Mutation_p.Q2576K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2576					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTAAAATTGGATGAACTCA	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.I2575I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7726-7728)Caa>Aaa		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							123	104	111					7																	103159906		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103159906G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7726C>A	7.37:g.103159906G>T	ENSP00000392423:p.Gln2576Lys					RELN_uc022ajq.1_Missense_Mutation_p.Q2576K|RELN_uc010liz.3_Missense_Mutation_p.Q2576K	p.Q2576K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	48	7886	-			2576					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7726C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143145	0.94560	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.87	5.87	0.94306	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.73598	2.24	0.58432	D	0.999999	D;P	0.71674	0.998;0.911	D;P	0.76071	0.987;0.89	T	0.54682	-0.8257	10	0.72032	D	0.01	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	2576;2576	P78509-2;P78509	.;RELN_HUMAN	K	2576;2576;2576;93;2576	ENSP00000392423:Q2576K;ENSP00000345694:Q2576K;ENSP00000388446:Q2576K	ENSP00000345694:Q2576K	Q	-	1	0	RELN	102947142	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.441000	0.97557	2.780000	0.95670	0.655000	0.94253	CAA		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103159906	G	T	103159906	3	4	151	1	0	0	0	0	1	0	0	0	13220	1357	47	5	2724	5	RELN	7	103159906	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	2429112	103159906	55978757	51	10399											
DLGAP2	9228	broad.mit.edu	37	chr8	1649565	1649565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccccgaggcccagacccGgctctgagggcggaggccgg	6	3	16	16	4	1	2	0	1	1	1	2	4	2	3	5	6	0	1	5	6	0	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:1649565G>A	ENST00000421627.2	+	12	3055	c.2921G>A	c.(2920-2922)cGg>cAg	p.R974Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1053					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCAGACCCGGCTCTGAGGG	0.706																																						uc003wpl.3																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2920-2922)cGg>cAg		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							9	12	11					8																	1649565		2180	4288	6468	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1649565G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2921G>A	8.37:g.1649565G>A	ENSP00000400258:p.Arg974Gln					DLGAP2_uc003wpm.3_Missense_Mutation_p.R960Q	p.R974Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	3018	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	1053					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2921G>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.359716|6.359716	0.97502|0.97502	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.22336	.|1.96	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54062|0.54062	0.1835|0.1835	M|M	0.86268|0.86268	2.805|2.805	0.46061|0.46061	D|D	0.998848|0.998848	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.60332|0.60332	-0.7284|-0.7284	5|10	.|0.87932	.|D	.|0	-16.0272|-16.0272	19.3914|19.3914	0.94584|0.94584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1039;1053	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	S|Q	977|1005;974	.|ENSP00000400258:R974Q	.|ENSP00000348366:R1005Q	G|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1636972|1636972	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.953000|0.953000	0.61014|0.61014	9.302000|9.302000	0.96175|0.96175	2.587000|2.587000	0.87381|0.87381	0.491000|0.491000	0.48974|0.48974	GGC|CGG		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1649565	G	A	1649565	3	1	151	1	0	0	0	0	1	0	0	0	4560	1116	39	2	2963	2	DLGAP2	8	1649565	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		1649565	144714457	52	10400											
ADAM28	10863	broad.mit.edu	37	chr8	24199150	24199150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgtcaaggtgggtcGgataatttgccctggaaagg	8	13	14	6	1	2	0	1	0	1	0	3	2	2	2	1	5	1	1	1	5	3	4	rs145453785	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:24199150G>A	ENST00000265769.4	+	16	1820	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S570S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													G|||	3	0.000599042	0.0023	0	5008	,	,		21334	0		0	False		,,,				2504	0				NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			1	Substitution - coding silent(1)	p.S570S(2)|p.G569W(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1708-1710)tcG>tcA		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	263	251	255		1710	-1.3	0.2	8	dbSNP_134	255	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	ADAM28	NM_014265.4		0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692		570/776	24199150	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199150G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1710G>A	8.37:g.24199150G>A						ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S257S	p.S570S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	15	1793	+		Prostate(55;0.0959)	570			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1710G>A	CCDS34865.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.066	-1.212798	0.01555	6.81E-4	6.98E-4	ENSG00000042980	ENST00000521629	.	.	.	5.84	-1.3	0.09259	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.22142	N	0.999336	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	2.6844	0.05103	0.6138:0.1127:0.152:0.1216	.	.	.	.	R	203	.	.	G	+	1	0	ADAM28	24255095	0.005000	0.15991	0.213000	0.23690	0.003000	0.03518	1.195000	0.32186	-0.393000	0.07739	-2.289000	0.00267	GGA		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		A	24199150	G	A	24199150	2	1	151	1	0	0	0	0	0	0	0	1	246	1103	39	2		2	ADAM28	8	24199150	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	22549585	24199150	122164872	53	10401											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771184	145771184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactgggcacaggcagcgAggtcctcagactgagaagga	12	4	15	10	2	1	2	1	1	0	2	2	6	2	3	1	4	2	2	1	4	2	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:145771184A>G	ENST00000276826.5	-	5	2171	c.1970T>C	c.(1969-1971)cTc>cCc	p.L657P	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.L657P|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.L657P			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	657					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACAGGCAGCGAGGTCCTCAGA	0.672																																						uc003zds.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1969-1971)cTc>cCc		Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.							12	11	12					8																	145771184		2186	4255	6441	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771184A>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1970T>C	8.37:g.145771184A>G	ENSP00000276826:p.Leu657Pro					ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zdt.1_Missense_Mutation_p.L657P	p.L657P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	2525	-			657					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1970T>C		.	.	.	.	.	.	.	.	.	.	A	14.80	2.642913	0.47153	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72282	-0.64;-0.36;-0.64	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.80539	0.4642	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.80863	-0.1192	10	0.48119	T	0.1	-11.4423	12.9475	0.58382	1.0:0.0:0.0:0.0	.	657;657	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	P	657	ENSP00000276826:L657P;ENSP00000366522:L657P;ENSP00000445075:L657P	ENSP00000276826:L657P	L	-	2	0	ARHGAP39	145741992	1.000000	0.71417	0.879000	0.34478	0.970000	0.65996	5.939000	0.70179	1.953000	0.56701	0.528000	0.53228	CTC		0.672	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			G	145771184	A	G	145771184	3	3	151	1	0	0	0	0	1	0	0	0	884	304	11	4	1402	4	ARHGAP39	8	145771184	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	121572034	145771184	592838	54	10402											
FREM1	158326	broad.mit.edu	37	chr9	14784500	14784500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcgatctggccatatcgcGgaggggaggtgatgacatag	10	9	15	7	3	1	2	0	2	1	0	3	5	1	4	1	5	0	0	1	5	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:14784500G>A	ENST00000380880.3	-	24	5093	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	FREM1_ENST00000422223.2_Missense_Mutation_p.P1437L|FREM1_ENST00000380881.4_Missense_Mutation_p.P1438L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1437					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATATCGCGGAGGGGAGGT	0.488																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4309-4311)cCg>cTg		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							106	103	104					9																	14784500		2012	4162	6174	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14784500G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4310C>T	9.37:g.14784500G>A	ENSP00000370262:p.Pro1437Leu					FREM1_uc010mic.3_Intron	p.P1437L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	24	5126	-			1437					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4310C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565913	0.65651	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	D;D;D	0.82255	-1.59;-1.59;-1.59	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94480	0.7692	10	0.87932	D	0	-14.732	19.8285	0.96626	0.0:0.0:1.0:0.0	.	1437	Q5H8C1	FREM1_HUMAN	L	1438;1437;1437	ENSP00000370263:P1438L;ENSP00000412940:P1437L;ENSP00000370262:P1437L	ENSP00000370262:P1437L	P	-	2	0	FREM1	14774500	1.000000	0.71417	0.173000	0.22940	0.027000	0.11550	9.374000	0.97172	2.758000	0.94735	0.591000	0.81541	CCG		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14784500	G	A	14784500	3	1	151	1	0	0	0	0	1	0	0	0	6044	1116	39	2	2335	2	FREM1	9	14784500	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		14784500	126428931	55	10403											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177746	70177747	+	In_Frame_Ins	INS	-	-	GCC																															aactctgaggggtcactcggINSgccgccgccgccctcgatgt																								rs558775574	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:70177746_70177747insGCC	ENST00000377420.1	-	1	1068_1069	c.237_238insGGC	c.(235-240)ggcccg>ggcGGCccg	p.79_80insG		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	79					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G79G(2)		endometrium(5)|lung(2)	7						GGGTCACTCGGGCCGCCGCCGC	0.688																																						uc010moc.3																			2	Substitution - coding silent(2)	p.G79G(3)	endometrium(2)	endometrium(5)|lung(2)	7						c.(235-240)insGGC		Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.																																				SO:0001652	inframe_insertion	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177746_70177747insGCC		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.235_237dupGGC	9.37:g.70177753_70177755dupGCC	ENSP00000366637:p.Gly79_Gly79dup						p.79_80insG	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			0	1069_1070	-			79						In_Frame_Ins	INS	ENST00000377420.1	37	c.237_238insGGC	CCDS47977.1																																																																																				0.688	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		GCC	70177747	-	GCC	70177746	7	5	151	1	0	1	1	0	0	0	0	0	6002	1232	43	0	1016	0	FOXD4L5	9	70177746	In_Frame_Ins	INS	-	TCGA-16-1048-01B-01D-1353-08	55393246	70177746	71035685	56	10404											
ZMIZ1	57178	broad.mit.edu	37	chr10	81065892	81065892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaccatcgatcccacgtGcagctggcggccggtgccca	6	6	13	16	4	1	0	1	0	0	0	3	1	2	0	4	4	3	2	4	4	0	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:81065892G>T	ENST00000334512.5	+	22	3031	c.2459G>T	c.(2458-2460)tGc>tTc	p.C820F	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	820					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATCCCACGTGCAGCTGGCGG	0.607																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2458-2460)tGc>tTc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							66	56	59					10																	81065892		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81065892G>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2459G>T	10.37:g.81065892G>T	ENSP00000334474:p.Cys820Phe					ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR	p.C820F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		21	3031	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		820					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2459G>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639586	0.87760	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35789	1.29	4.7	4.7	0.59300	.	0.000000	0.46145	D	0.000320	T	0.58708	0.2141	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.64791	-0.6324	10	0.66056	D	0.02	-12.6727	18.0355	0.89301	0.0:0.0:1.0:0.0	.	820	Q9ULJ6	ZMIZ1_HUMAN	F	820;750;722	ENSP00000334474:C820F	ENSP00000334474:C820F	C	+	2	0	ZMIZ1	80735898	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.437000	0.97535	2.334000	0.79466	0.491000	0.48974	TGC		0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		T	81065892	G	T	81065892	3	4	151	1	0	0	0	0	1	0	0	0	17693	1319	46	5	2529	5	ZMIZ1	10	81065892	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		81065892	54468855	57	10405											
PNLIP	5406	broad.mit.edu	37	chr10	118307871	118307871	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacttttctgtctaaacaGgaagttgccgcagattcatc	12	12	7	10	1	3	1	1	0	2	1	4	2	3	2	1	1	3	2	1	1	4	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118307871G>A	ENST00000369221.2	+	4	229		c.e4-1		PNLIP_ENST00000470562.1_Splice_Site	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388																																						uc001lcm.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.e4-1		Homo sapiens pancreatic lipase (PNLIP), mRNA.	Bentiromide(DB00522)|Orlistat(DB01083)						125	133	130					10																	118307871		2203	4300	6503	SO:0001630	splice_region_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307871G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.202-1G>A	10.37:g.118307871G>A							p.E68_splice	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	245	+			68					Q5VSQ2	Splice_Site	SNP	ENST00000369221.2	37	c.202_splice	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299681	0.23650	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.089	0.89468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIP	118297861	1.000000	0.71417	0.566000	0.28421	0.121000	0.20230	4.697000	0.61782	2.814000	0.96858	0.585000	0.79938	.		0.388	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	Intron	A	118307871	G	A	118307871	5	1	151	1	0	0	0	0	0	0	1	0	12149	1014	35	3	211	3	PNLIP	10	118307871	Splice_Site	SNP	G	TCGA-16-1048-01B-01D-1353-08	37241979	118307871	17226876	58	10406											
KIAA1598	57698	broad.mit.edu	37	chr10	118728202	118728202	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaacggcttcatctcGttcttgcctaattttgtcac	6	20	5	10	2	4	0	2	0	2	0	5	0	4	0	1	1	2	2	1	1	2	9			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118728202G>T	ENST00000355371.4	-	3	630	c.133C>A	c.(133-135)Cga>Aga	p.R45R	KIAA1598_ENST00000392903.2_Silent_p.R45R|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.R45R	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	45					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTTCATCTCGTTCTTGCCTA	0.318																																						uc021pzk.1																			0		p.E44K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(133-135)Cga>Aga		Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.							120	108	112					10																	118728202		2201	4298	6499	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118728202G>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.133C>A	10.37:g.118728202G>T						KIAA1598_uc009xyw.3_Silent_p.R45R|KIAA1598_uc001lcz.4_Silent_p.R45R|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Silent_p.R15R	p.R45R	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	2	631	-			45					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.133C>A	CCDS44482.1																																																																																				0.318	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		T	118728202	G	T	118728202	2	4	151	1	0	0	0	0	0	0	0	1	8246	1153	40	5		5	KIAA1598	10	118728202	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	420331	118728202	16806545	59	10407											
STIM1	6786	broad.mit.edu	37	chr11	4045179	4045179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggataagctcatcaGcgtggaggacctgtggaagg	10	8	17	6	1	2	1	2	1	0	0	2	5	2	5	1	6	2	1	1	6	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:4045179G>A	ENST00000300737.4	+	3	916	c.347G>A	c.(346-348)aGc>aAc	p.S116N	STIM1_ENST00000527651.1_Missense_Mutation_p.S116N|STIM1_ENST00000527484.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	116					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AAGCTCATCAGCGTGGAGGAC	0.488																																						uc021qco.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(346-348)aGc>aAc		Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.							158	127	138					11																	4045179		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4045179G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.347G>A	11.37:g.4045179G>A	ENSP00000300737:p.Ser116Asn					STIM1_uc001lyv.2_Missense_Mutation_p.S116N|STIM1_uc009yef.2_Missense_Mutation_p.S116N	p.S116N	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	2	915	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	116					E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.347G>A	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926798	0.73327	.	.	ENSG00000167323	ENST00000525403;ENST00000300737;ENST00000527651;ENST00000532610;ENST00000532919;ENST00000530554;ENST00000524822;ENST00000525055;ENST00000528656;ENST00000532990	T;D	0.82433	-0.62;-1.61	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.67397	2.05	0.80722	D	1	B;B	0.27625	0.183;0.135	B;B	0.35550	0.127;0.205	D	0.84086	0.0387	10	0.87932	D	0	-13.1876	16.5441	0.84409	0.0:0.0:1.0:0.0	.	116;116	E9PQJ4;Q13586	.;STIM1_HUMAN	N	42;116;116;42;42;42;42;42;42;42	ENSP00000300737:S116N;ENSP00000436208:S116N	ENSP00000300737:S116N	S	+	2	0	STIM1	4001755	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.829000	0.92055	2.514000	0.84764	0.563000	0.77884	AGC		0.488	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		A	4045179	G	A	4045179	3	1	151	1	0	0	0	0	1	0	0	0	15282	971	34	3	357	3	STIM1	11	4045179	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		4045179	130961337	60	10408											
OR8I2	120586	broad.mit.edu	37	chr11	55861310	55861310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattccagcatcaatcattTtttttgtgacaccacagctc	10	15	5	11	0	2	2	2	2	0	0	4	2	3	2	2	0	2	2	2	0	1	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:55861310T>C	ENST00000302124.2	+	1	558	c.527T>C	c.(526-528)tTt>tCt	p.F176S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCAATCATTTTTTTTGTGAC	0.443																																						uc010rix.2																			0		p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(526-528)tTt>tCt		Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.							156	147	150					11																	55861310		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861310T>C	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.527T>C	11.37:g.55861310T>C	ENSP00000303864:p.Phe176Ser						p.F176S	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			0	527	+	Esophageal squamous(21;0.00693)		176					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.527T>C	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026978	0.35797	.	.	ENSG00000172154	ENST00000302124	T	0.00352	7.96	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000934	T	0.00580	0.0019	H	0.97635	4.045	0.26306	N	0.97789	B	0.34349	0.45	B	0.34180	0.177	T	0.14755	-1.0461	10	0.87932	D	0	-8.3715	8.2708	0.31842	0.2992:0.0:0.0:0.7007	.	176	Q8N0Y5	OR8I2_HUMAN	S	176	ENSP00000303864:F176S	ENSP00000303864:F176S	F	+	2	0	OR8I2	55617886	0.045000	0.20229	0.997000	0.53966	0.341000	0.28922	0.456000	0.21859	1.717000	0.51406	0.362000	0.22060	TTT		0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		C	55861310	T	C	55861310	3	2	151	1	0	0	0	0	1	0	0	0	11240	1841	64	4	529	4	OR8I2	11	55861310	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	51816131	55861310	79145206	61	10409											
SLC22A9	114571	broad.mit.edu	37	chr11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgaggccagagaagtgtCgtcgctttgttcatcctcag	9	11	11	10	2	2	2	2	1	0	1	5	3	3	2	2	1	0	2	2	1	1	2	rs143461929		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:63137793C>T	ENST00000279178.3	+	1	514	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.R89C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	89					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537													C|||	1	0.000199681	0	0	5008	,	,		21134	0.001		0	False		,,,				2504	0					uc001nww.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(265-267)Cgt>Tgt		Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.							135	117	123					11																	63137793		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137793C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.265C>T	11.37:g.63137793C>T	ENSP00000279178:p.Arg89Cys					SLC22A9_uc001nwx.3_Non-coding_Transcript	p.R89C	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			0	533	+			89					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.265C>T	CCDS8043.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.30	2.195302	0.38806	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.37915	1.17;1.17	3.48	3.48	0.39840	.	0.517237	0.20530	N	0.090528	T	0.66567	0.2802	M	0.93594	3.435	0.34943	D	0.75048	D	0.89917	1.0	D	0.70716	0.97	T	0.80228	-0.1469	10	0.51188	T	0.08	.	13.0042	0.58694	0.0:1.0:0.0:0.0	.	89	Q8IVM8	S22A9_HUMAN	C	89	ENSP00000311527:R89C;ENSP00000279178:R89C	ENSP00000279178:R89C	R	+	1	0	SLC22A9	62894369	0.045000	0.20229	0.188000	0.23233	0.171000	0.22731	3.363000	0.52321	2.025000	0.59659	0.134000	0.15878	CGT		0.537	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		T	63137793	C	T	63137793	3	4	151	1	0	0	0	0	1	0	0	0	14461	884	31	2	267	2	SLC22A9	11	63137793	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	7276483	63137793	71868723	62	10410											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714723	65714723	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccctcctcgttctccCagcgtcagtccaggcgcaag	6	8	9	18	3	2	0	1	0	1	0	6	0	4	0	5	1	2	2	5	1	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:65714723C>T	ENST00000532620.1	+	0	658				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CTCGTTCTCCCAGCGTCAGTC	0.657																																						uc001ogk.1																			0				endometrium(2)|kidney(3)|lung(9)	14						c.(424-426)Cag>Tag		Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.							17	20	19					11																	65714723		2121	4227	6348			254187							g.chr11:65714723C>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714723C>T						TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	p.Q142*	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			3	456	+			143					Q3SXZ9|Q3SY01|Q96M26	Nonsense_Mutation	SNP	ENST00000532620.1	37	c.424C>T																																																																																					0.657	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		T	65714723	C	T	65714723	1	4	151	0	1	0	0	0	0	0	0	0	16615	595	21	3		3	TSGA10IP	11	65714723	RNA	SNP	C	TCGA-16-1048-01B-01D-1353-08	2576930	65714723	69291793	63	10411											
MOGAT2	80168	broad.mit.edu	37	chr11	75439862	75439862	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgccaatcttctccttCggggagaatgacctatttga	8	13	10	10	1	2	3	0	2	2	1	4	4	2	3	3	3	1	0	3	3	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:75439862C>T	ENST00000198801.5	+	5	748	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MOGAT2_ENST00000526712.1_Silent_p.F144F	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	226					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTCCTTCGGGGAGAATG	0.537																																						uc010rru.2																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(676-678)ttC>ttT		Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.							92	91	91					11																	75439862		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439862C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.678C>T	11.37:g.75439862C>T						MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Silent_p.F144F	p.F226F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			4	678	+	Ovarian(111;0.103)		226					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.678C>T	CCDS8240.1																																																																																				0.537	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		T	75439862	C	T	75439862	2	4	151	1	0	0	0	0	0	0	0	1	9695	883	31	2		2	MOGAT2	11	75439862	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	9725139	75439862	59566654	64	10412											
GDPD4	220032	broad.mit.edu	37	chr11	76990356	76990356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcattactcaccaacaGcaatgaagagtaggcagtca	17	6	9	9	0	2	3	2	1	0	2	2	3	2	3	1	1	4	4	1	1	6	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:76990356G>A	ENST00000376217.2	-	3	392	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	GDPD4_ENST00000527489.1_Intron|GDPD4_ENST00000315938.4_Silent_p.L48L			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	48					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCACCAACAGCAATGAAGAG	0.433																																						uc001oyf.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(142-144)Ctg>Ttg		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.							102	89	93					11																	76990356		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76990356G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.142C>T	11.37:g.76990356G>A							p.L48L	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			2	393	-			48					Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.142C>T																																																																																					0.433	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		A	76990356	G	A	76990356	2	1	151	1	0	0	0	0	0	0	0	1	6326	962	34	3		3	GDPD4	11	76990356	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	1550494	76990356	58016160	65	10413											
AMOTL1	154810	broad.mit.edu	37	chr11	94532995	94532995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagggggcGgtgggccatggttactacat	10	6	15	10	1	0	0	0	0	0	0	0	0	0	0	1	5	6	4	1	5	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:94532995G>A	ENST00000433060.2	+	3	780	c.639G>A	c.(637-639)gcG>gcA	p.A213A	AMOTL1_ENST00000317829.8_Silent_p.A163A|AMOTL1_ENST00000317837.9_Silent_p.A213A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	213					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				agcagGGGGCGGTGGGCCATG	0.612																																						uc001pfb.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(637-639)gcG>gcA		Homo sapiens angiomotin like 1 (AMOTL1), mRNA.							15	17	16					11																	94532995		2143	4253	6396	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94532995G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.639G>A	11.37:g.94532995G>A						AMOTL1_uc001pfc.3_Silent_p.A163A	p.A213A	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			2	809	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	213					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.639G>A	CCDS44712.1																																																																																				0.612	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		A	94532995	G	A	94532995	2	1	151	1	0	0	0	0	0	0	0	1	583	1103	39	2		2	AMOTL1	11	94532995	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	17542639	94532995	40473521	66	10414											
CLDN25	644672	broad.mit.edu	37	chr11	113650759	113650759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagctccaggtagcccGcatcctcatggtagcctccc	7	7	10	17	1	1	0	1	0	0	0	4	1	4	1	6	3	3	4	6	3	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:113650759G>A	ENST00000453129.2	+	1	291	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CAGGTAGCCCGCATCCTCATG	0.557																																						uc009yyw.1																			0				large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(241-243)cGc>cAc		Homo sapiens claudin 25 (CLDN25), mRNA.							110	122	118					11																	113650759		2176	4281	6457	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650759G>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.242G>A	11.37:g.113650759G>A	ENSP00000396304:p.Arg81His						p.R81H	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			0	242	+			81						Missense_Mutation	SNP	ENST00000453129.2	37	c.242G>A	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620998	0.66787	.	.	ENSG00000228607	ENST00000453129	D	0.89875	-2.58	5.06	3.21	0.36854	.	.	.	.	.	D	0.95667	0.8591	H	0.95187	3.635	0.24129	N	0.995771	D	0.89917	1.0	D	0.97110	1.0	D	0.88418	0.3026	9	0.87932	D	0	.	10.517	0.44896	0.1582:0.0:0.8418:0.0	.	81	C9JDP6	CLD25_HUMAN	H	81	ENSP00000396304:R81H	ENSP00000396304:R81H	R	+	2	0	CLDN25	113155969	0.927000	0.31430	0.003000	0.11579	0.761000	0.43186	5.119000	0.64679	0.734000	0.32515	-0.143000	0.13931	CGC		0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		A	113650759	G	A	113650759	3	1	151	1	0	0	0	0	1	0	0	0	3485	1087	38	1	244	1	CLDN25	11	113650759	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	19117764	113650759	21355757	67	10415											
AQP5	362	broad.mit.edu	37	chr12	50355944	50355944	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcagatcgcgctggcGtttggcctggccataggcac	6	9	13	13	3	0	1	0	0	0	1	2	1	1	1	3	4	1	4	3	4	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:50355944G>A	ENST00000293599.6	+	1	292	c.144G>A	c.(142-144)gcG>gcA	p.A48A	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	48					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TCGCGCTGGCGTTTGGCCTGG	0.667																																						uc001rvo.2																			0				large_intestine(1)|lung(3)	4						c.(142-144)gcG>gcA		Homo sapiens aquaporin 5 (AQP5), mRNA.							55	44	47					12																	50355944		2203	4299	6502	SO:0001819	synonymous_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50355944G>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.144G>A	12.37:g.50355944G>A							p.A48A	NM_001651	NP_001642	P55064	AQP5_HUMAN			0	666	+			48					Q6FGW8	Silent	SNP	ENST00000293599.6	37	c.144G>A	CCDS8793.1																																																																																				0.667	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		A	50355944	G	A	50355944	2	1	151	1	0	0	0	0	0	0	0	1	829	1132	40	1		1	AQP5	12	50355944	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		50355944	83495951	68	10416											
HSD17B6	8630	broad.mit.edu	37	chr12	57167873	57167873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgacaggctggagacGgtgaccctggatgttaccaa	10	8	13	10	2	1	3	0	2	1	1	1	5	1	4	2	4	1	2	2	4	2	1	rs147344470	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:57167873G>A	ENST00000554643.1	+	3	586	c.237G>A	c.(235-237)acG>acA	p.T79T	HSD17B6_ENST00000555159.1_Silent_p.T79T|HSD17B6_ENST00000322165.1_Silent_p.T79T|HSD17B6_ENST00000554150.1_Silent_p.T79T|HSD17B6_ENST00000555805.1_Silent_p.T79T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	79					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGCTGGAGACGGTGACCCTGG	0.567													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		17066	0		0	False		,,,				2504	0					uc001smg.1																			0				endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(235-237)acG>acA		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	Succinic acid(DB00139)	G		37,4369	41.6+/-74.8	0,37,2166	67	68	67		237	-9.6	0.3	12	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	HSD17B6	NM_003725.2		0,37,6466	AA,AG,GG		0.0,0.8398,0.2845		79/318	57167873	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167873G>A	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.237G>A	12.37:g.57167873G>A							p.T79T	NM_003725	NP_003716	O14756	H17B6_HUMAN			1	347	+			79					O43275	Silent	SNP	ENST00000554643.1	37	c.237G>A	CCDS8925.1																																																																																				0.567	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		A	57167873	G	A	57167873	2	1	151	1	0	0	0	0	0	0	0	1	7387	1103	39	2		2	HSD17B6	12	57167873	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	6811929	57167873	76684022	69	10417											
NOS1	4842	broad.mit.edu	37	chr12	117669899	117669899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaagatggtgcagggCgggaggcggagctcgtctgt	6	7	20	8	3	1	1	0	0	1	1	2	4	1	4	1	6	2	2	1	6	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:117669899C>T	ENST00000338101.4	-	22	3379	c.3375G>A	c.(3373-3375)ccG>ccA	p.P1125P	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.P1091P			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.P1091P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGGTGCAGGGCGGGAGGCGGA	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			1	Substitution - coding silent(1)	p.P1091P(1)|p.E1124K(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3373-3375)ccG>ccA		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						69	77	74					12																	117669899		2152	4264	6416	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117669899C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3375G>A	12.37:g.117669899C>T						NOS1_uc021ren.1_Silent_p.P755P|NOS1_uc021reo.1_Silent_p.P755P|NOS1_uc001twm.2_Silent_p.P1091P	p.P1125P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	22	4086	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1091			FAD-binding FR-type.			Silent	SNP	ENST00000338101.4	37	c.3375G>A	CCDS55890.1																																																																																				0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117669899	C	T	117669899	2	4	151	1	0	0	0	0	0	0	0	1	10541	755	27	1		1	NOS1	12	117669899	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	60502026	117669899	16181996	70	10418											
TSC22D1	8848	broad.mit.edu	37	chr13	45148388	45148388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggaggagccgcctgaGaatatggtagctggggttga	9	8	17	7	1	0	2	0	2	0	1	0	5	0	4	2	5	2	4	2	5	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:45148388G>T	ENST00000458659.2	-	1	2313	c.1823C>A	c.(1822-1824)tCt>tAt	p.S608Y	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	608	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCGCCTGAGAATATGGTAG	0.522																																						uc001uzn.4																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1822-1824)tCt>tAt		Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.							67	67	67					13																	45148388		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148388G>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1823C>A	13.37:g.45148388G>T	ENSP00000397435:p.Ser608Tyr					TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	p.S608Y	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	0	2314	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	608			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1823C>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044801	0.55110	.	.	ENSG00000102804	ENST00000458659	T	0.34072	1.38	4.44	4.44	0.53790	.	0.329841	0.26453	N	0.024288	T	0.32823	0.0842	L	0.29908	0.895	0.80722	D	1	P	0.44090	0.826	B	0.43575	0.424	T	0.20338	-1.0278	10	0.59425	D	0.04	.	16.1581	0.81680	0.0:0.0:1.0:0.0	.	608	Q15714	T22D1_HUMAN	Y	608	ENSP00000397435:S608Y	ENSP00000397435:S608Y	S	-	2	0	TSC22D1	44046388	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	5.550000	0.67268	2.466000	0.83321	0.491000	0.48974	TCT		0.522	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		T	45148388	G	T	45148388	3	4	151	1	0	0	0	0	1	0	0	0	16604	942	33	5	1539	5	TSC22D1	13	45148388	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		45148388	70021490	71	10419											
TUBGCP3	10426	broad.mit.edu	37	chr13	113176787	113176787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcatcaatcttccccTgaaatgcattttccaagtct	12	12	5	12	0	3	1	1	1	2	0	5	1	5	1	3	0	3	3	3	0	4	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:113176787T>C	ENST00000261965.3	-	14	1778	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.Q531R	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	531					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AATCTTCCCCTGAAATGCATT	0.423																																						uc001vse.1																			0		p.Q531*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1591-1593)cAg>cGg		Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.							108	95	99					13																	113176787		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113176787T>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1592A>G	13.37:g.113176787T>C	ENSP00000261965:p.Gln531Arg					TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.3_Missense_Mutation_p.Q531R	p.Q531R	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			13	1779	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		531					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1592A>G	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684751	0.47991	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08370	3.1;3.1	5.63	4.44	0.53790	.	0.113540	0.64402	N	0.000008	T	0.07908	0.0198	L	0.42581	1.335	0.53005	D	0.999967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.005	T	0.19063	-1.0317	10	0.15066	T	0.55	-19.4788	10.8889	0.46984	0.0:0.0765:0.0:0.9235	.	521;531;531	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	R	531	ENSP00000261965:Q531R;ENSP00000364821:Q531R	ENSP00000261965:Q531R	Q	-	2	0	TUBGCP3	112224788	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	5.603000	0.67619	0.962000	0.38057	0.456000	0.33151	CAG		0.423	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		C	113176787	T	C	113176787	3	2	151	1	0	0	0	0	1	0	0	0	16764	1580	55	4	1167	4	TUBGCP3	13	113176787	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	68028399	113176787	1993091	72	10420											
ZNF828	283489	broad.mit.edu	37	chr13	115090500	115090500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcatggaagtctggcccaCcagaactccgaaagacagct	13	6	10	12	1	2	2	1	0	1	2	3	4	3	3	3	2	2	1	3	2	3	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:115090500C>G	ENST00000361283.1	+	3	1492	c.1183C>G	c.(1183-1185)Cca>Gca	p.P395A		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	395	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GTCTGGCCCACCAGAACTCCG	0.557																																						uc001vuv.3																			0											c.(1183-1185)Cca>Gca		Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.							101	105	104					13																	115090500		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090500C>G	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1183C>G	13.37:g.115090500C>G	ENSP00000354730:p.Pro395Ala					CHAMP1_uc010tko.2_Missense_Mutation_p.P395A|CHAMP1_uc010ahb.3_Missense_Mutation_p.P395A|CHAMP1_uc021rmx.1_Missense_Mutation_p.P395A	p.P395A	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN			2	1515	+			395			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1183C>G	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361694	0.41801	.	.	ENSG00000198824	ENST00000361283	T	0.03801	3.8	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000055	T	0.12305	0.0299	M	0.65498	2.005	0.38585	D	0.950288	D	0.55800	0.973	P	0.53593	0.73	T	0.00768	-1.1574	9	.	.	.	-15.5449	9.8161	0.40853	0.1415:0.7858:0.0:0.0727	.	395	Q96JM3	ZN828_HUMAN	A	395	ENSP00000354730:P395A	.	P	+	1	0	ZNF828	114108602	0.126000	0.22350	1.000000	0.80357	0.996000	0.88848	0.999000	0.29757	2.805000	0.96524	0.655000	0.94253	CCA		0.557	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		G	115090500	C	G	115090500	3	3	151	1	0	0	0	0	1	0	0	0	18178	507	18	5	1185	5	ZNF828	13	115090500	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	1913713	115090500	79378	73	10421											
AK7	122481	broad.mit.edu	37	chr14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacggtgatgacttgggCgcgctccaaagccctggacc	7	7	14	13	4	0	2	0	2	0	0	2	4	1	3	3	3	1	1	3	3	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:96875256C>T	ENST00000267584.4	+	4	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	159					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473																																						uc001yfn.2																			0		p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(475-477)gCg>gTg		Homo sapiens adenylate kinase 7 (AK7), mRNA.							88	85	86					14																	96875256		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875256C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.476C>T	14.37:g.96875256C>T	ENSP00000267584:p.Ala159Val						p.A159V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	3	520	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	159					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.476C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313464	0.40996	.	.	ENSG00000140057	ENST00000267584	T	0.43294	0.95	5.1	5.1	0.69264	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.69185	2.1	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	T	0.55173	-0.8182	10	0.45353	T	0.12	-27.8015	15.7785	0.78242	0.0:1.0:0.0:0.0	.	159	Q96M32	KAD7_HUMAN	V	159	ENSP00000267584:A159V	ENSP00000267584:A159V	A	+	2	0	AK7	95945009	0.998000	0.40836	0.955000	0.39395	0.036000	0.12997	4.965000	0.63708	2.535000	0.85469	0.655000	0.94253	GCG		0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			T	96875256	C	T	96875256	3	4	151	1	0	0	0	0	1	0	0	0	444	768	27	1	490	1	AK7	14	96875256	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		96875256	10474284	74	10422											
AHNAK2	113146	broad.mit.edu	37	chr14	105407228	105407228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacctgaccaagagaaacagGaatcatggaattcagtgggc	15	7	11	8	0	2	2	2	1	0	1	2	5	2	4	2	3	2	0	2	3	5	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:105407228G>C	ENST00000333244.5	-	7	14679	c.14560C>G	c.(14560-14562)Cct>Gct	p.P4854A	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4854						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGAAACAGGAATCATGGAA	0.483																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14560-14562)Cct>Gct		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							28	29	29					14																	105407228		1928	4146	6074	SO:0001583	missense	113146					nucleus		g.chr14:105407228G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14560C>G	14.37:g.105407228G>C	ENSP00000353114:p.Pro4854Ala					AHNAK2_uc021sen.1_Missense_Mutation_p.P251A|AHNAK2_uc021seo.1_5'UTR|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A	p.P4854A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	14680	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4854					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14560C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	7.961	0.747010	0.15710	.	.	ENSG00000185567	ENST00000333244	T	0.05717	3.4	4.67	0.397	0.16314	.	.	.	.	.	T	0.02230	0.0069	N	0.12182	0.205	0.09310	N	1	P	0.37101	0.582	B	0.31686	0.134	T	0.32929	-0.9888	9	0.08381	T	0.77	.	1.4065	0.02282	0.1955:0.1692:0.4613:0.174	.	4854	Q8IVF2	AHNK2_HUMAN	A	4854	ENSP00000353114:P4854A	ENSP00000353114:P4854A	P	-	1	0	AHNAK2	104478273	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.613000	0.05610	0.145000	0.18977	0.563000	0.77884	CCT		0.483	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105407228	G	C	105407228	3	2	151	1	0	0	0	0	1	0	0	0	415	1174	41	5	2831	5	AHNAK2	14	105407228	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	8531972	105407228	1942312	75	10423											
NDN	4692	broad.mit.edu	37	chr15	23932352	23932352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtcgctcagatccttacTttgttctgacatgtctgcgc	6	14	10	11	2	3	2	1	1	2	1	5	2	4	2	1	1	2	2	1	1	1	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:23932352T>A	ENST00000331837.4	-	1	98	c.13A>T	c.(13-15)Agt>Tgt	p.S5C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	5					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATCCTTACTTTGTTCTGAC	0.642									Prader-Willi syndrome																													uc001ywk.3																			0		p.S5I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(13-15)Agt>Tgt		Homo sapiens necdin homolog (mouse) (NDN), mRNA.							30	28	29					15																	23932352		1745	3468	5213	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932352T>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.13A>T	15.37:g.23932352T>A	ENSP00000332643:p.Ser5Cys						p.S5C	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	0	99	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	5					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.13A>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.218950	0.39201	.	.	ENSG00000182636	ENST00000331837	T	0.02916	4.11	3.75	2.48	0.30137	.	0.911450	0.09278	N	0.824191	T	0.02304	0.0071	N	0.08118	0	0.27254	N	0.958801	D	0.55172	0.97	P	0.46543	0.52	T	0.49570	-0.8926	10	0.44086	T	0.13	.	6.4654	0.21980	0.0:0.0:0.2512:0.7488	.	5	Q99608	NECD_HUMAN	C	5	ENSP00000332643:S5C	ENSP00000332643:S5C	S	-	1	0	NDN	21483445	0.995000	0.38212	1.000000	0.80357	0.535000	0.34838	1.750000	0.38329	1.649000	0.50652	0.459000	0.35465	AGT		0.642	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23932352	T	A	23932352	3	1	151	1	0	0	0	0	1	0	0	0	10247	1609	56	5	956	5	NDN	15	23932352	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08		23932352	78599040	76	10424											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659651	30659651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgcccccgtcggggtcGtggtggtggtactgcagcac	4	10	15	12	3	1	0	0	0	1	0	3	0	1	0	2	5	4	3	2	5	1	2	rs371263130		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:30659651G>A	ENST00000299847.2	-	9	1143	c.690C>T	c.(688-690)caC>caT	p.H230H	CHRFAM7A_ENST00000397827.3_Silent_p.H139H|CHRFAM7A_ENST00000401522.3_Silent_p.H139H	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	230						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCGGGGTCGTGGTGGTGGT	0.602																																						uc001zdt.1																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(688-690)caC>caT		Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.		G	,	1,4381		0,1,2190	90	81	84		690,417	-2.1	1	15		84	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous	CHRFAM7A	NM_139320.1,NM_148911.1	,	0,1,6475	AA,AG,GG		0.0,0.0228,0.0077	,	230/413,139/322	30659651	1,12951	2191	4285	6476	SO:0001819	synonymous_variant	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30659651G>A	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.690C>T	15.37:g.30659651G>A						DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H	p.H230H	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	8	1256	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	230					A8KAB9	Silent	SNP	ENST00000299847.2	37	c.690C>T	CCDS32184.1																																																																																				0.602	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		A	30659651	G	A	30659651	2	1	151	1	0	0	0	0	0	0	0	1	3375	1136	40	1		1	CHRFAM7A	15	30659651	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	6727299	30659651	71871741	77	10425											
MNS1	55329	broad.mit.edu	37	chr15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-																															cttgaacttttgccatccgaTcttcttctctttgctgctgc																										TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:56735891_56735893delTCT	ENST00000260453.3	-	6	1010_1012	c.846_848delAGA	c.(844-849)gaagat>gat	p.E282del	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	282	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369																																						uc002adr.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(844-849)gaagat>gat		Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.																																				SO:0001651	inframe_deletion	55329				meiosis			g.chr15:56735891_56735893delTCT	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.846_848delAGA	15.37:g.56735897_56735899delTCT	ENSP00000260453:p.Glu282del					MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	p.E282del	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	5	1011_1013	-			282			Glu-rich.		Q8IYT6|Q9NUP4	In_Frame_Del	DEL	ENST00000260453.3	37	c.846_848delAGA	CCDS10158.1																																																																																				0.369	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		-	56735893	TCT	-	56735891	7	5	151	1	0	1	0	1	0	0	0	0	9677	1435	50	0	659	0	MNS1	15	56735891	In_Frame_Del	DEL	TCT	TCGA-16-1048-01B-01D-1353-08	26076240	56735891	45795501	78	10426											
ARID3B	10620	broad.mit.edu	37	chr15	74884098	74884098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcagcaggccttccagCgcaactttttcagcatggca	8	10	11	12	1	1	0	1	0	0	0	2	0	2	0	2	3	5	5	2	3	1	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:74884098C>T	ENST00000346246.5	+	7	1594	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	455	REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTTCCAGCGCAACTTTTT	0.647																																						uc002aye.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1363-1365)Cgc>Tgc		Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.							40	40	40					15																	74884098		2197	4293	6490	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74884098C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1363C>T	15.37:g.74884098C>T	ENSP00000343126:p.Arg455Cys					ARID3B_uc002ayd.3_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C	p.R455C	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			6	1564	+			455			REKLES.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1363C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083361	0.94050	.	.	ENSG00000179361	ENST00000346246;ENST00000395077	T	0.50548	0.74	5.31	5.31	0.75309	REKLES domain (1);	0.185184	0.51477	D	0.000092	T	0.64951	0.2645	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.965;0.976	T	0.66312	-0.5955	10	0.62326	D	0.03	-13.6935	18.9719	0.92718	0.0:1.0:0.0:0.0	.	455;455	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	C	455	ENSP00000343126:R455C	ENSP00000343126:R455C	R	+	1	0	ARID3B	72671151	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.395000	0.79876	2.490000	0.84030	0.655000	0.94253	CGC		0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		T	74884098	C	T	74884098	3	4	151	1	0	0	0	0	1	0	0	0	917	768	27	1	1385	1	ARID3B	15	74884098	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	18148207	74884098	27647294	79	10427											
SRRM2	23524	broad.mit.edu	37	chr16	2812074	2812074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatctccccagtggcgtagGtccaggtctgcacagaggtg	7	8	14	12	2	2	1	0	0	2	1	4	2	3	1	3	4	1	2	3	4	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:2812074G>A	ENST00000301740.8	+	11	2094	c.1545G>A	c.(1543-1545)agG>agA	p.R515R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	515	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTGGCGTAGGTCCAGGTCTG	0.617																																						uc002crk.3																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1543-1545)agG>agA		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							79	67	71					16																	2812074		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812074G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1545G>A	16.37:g.2812074G>A						SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R	p.R515R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	2094	+			515			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.1545G>A	CCDS32373.1																																																																																				0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2812074	G	A	2812074	2	1	151	1	0	0	0	0	0	0	0	1	15168	1252	44	3		3	SRRM2	16	2812074	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		2812074	87542679	80	10428											
ACSM2A	123876	broad.mit.edu	37	chr16	20476938	20476938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtgaaaacagccagcagGcagccaacgtcctctcggga	12	5	12	12	2	1	2	0	2	1	0	3	3	2	3	3	2	5	2	3	2	3	0	rs141326932	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20476938G>A	ENST00000573854.1	+	3	391	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCCAGCAGGCAGCCAACGT	0.612																																						uc010bwe.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(277-279)Gca>Aca		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125	111	116		277	1.5	0	16	dbSNP_134	116	4,8596	4.3+/-15.6	0,4,4296	no	missense	ACSM2A	NM_001010845.2	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	93/578	20476938	5,13001	2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476938G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.277G>A	16.37:g.20476938G>A	ENSP00000459451:p.Ala93Thr					ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A93T|ACSM2A_uc010vay.2_Missense_Mutation_p.A14T	p.A93T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	516	+			93					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.277G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277847	0.40294	2.27E-4	4.65E-4	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.76	1.53	0.23141	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.28466	0.0704	L	0.35593	1.075	0.23076	N	0.998336	B;B	0.30236	0.052;0.274	B;B	0.31390	0.091;0.129	T	0.23332	-1.0191	10	0.18276	T	0.48	-0.3522	7.5529	0.27808	0.2524:0.0:0.7476:0.0	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	14;93;93;93	ENSP00000392169:A14T;ENSP00000219054:A93T;ENSP00000394904:A93T;ENSP00000379411:A93T	ENSP00000219054:A93T	A	+	1	0	ACSM2A	20384439	0.088000	0.21588	0.024000	0.17045	0.429000	0.31625	1.327000	0.33746	0.108000	0.17862	0.298000	0.19748	GCA		0.612	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20476938	G	A	20476938	3	1	151	1	0	0	0	0	1	0	0	0	183	1203	42	3	283	3	ACSM2A	16	20476938	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	17664864	20476938	69877815	81	10429											
ACSM2B	348158	broad.mit.edu	37	chr16	20570670	20570670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccgagaggatgttggctgCctgctggctgttttcactca	5	13	12	11	1	2	1	2	0	0	1	3	3	3	2	2	3	2	5	2	3	0	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20570670C>T	ENST00000329697.6	-	3	445	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93T|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	93					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGTTGGCTGCCTGCTGGCTG	0.602																																						uc002dhj.4																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(277-279)Gca>Aca		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							26	21	23					16																	20570670		2200	4284	6484	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570670C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.277G>A	16.37:g.20570670C>T	ENSP00000327453:p.Ala93Thr					ACSM2B_uc002dhk.4_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T	p.A93T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			3	487	-			93					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.277G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	7.155	0.584590	0.13749	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.41758	0.99;0.99	3.51	0.393	0.16294	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.27384	0.0672	L	0.35414	1.06	0.22226	N	0.999275	B;B	0.30236	0.274;0.274	B;B	0.31390	0.129;0.129	T	0.24870	-1.0148	10	0.17369	T	0.5	-0.3522	7.1301	0.25496	0.0:0.672:0.0:0.328	.	93;93	A8K051;Q68CK6	.;ACS2B_HUMAN	T	93	ENSP00000327453:A93T;ENSP00000390378:A93T	ENSP00000327453:A93T	A	-	1	0	ACSM2B	20478171	0.001000	0.12720	0.023000	0.16930	0.018000	0.09664	0.675000	0.25232	-0.084000	0.12595	0.609000	0.83330	GCA		0.602	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		T	20570670	C	T	20570670	3	4	151	1	0	0	0	0	1	0	0	0	184	739	26	3	1504	3	ACSM2B	16	20570670	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	93732	20570670	69784083	82	10430											
ALOX12B	242	broad.mit.edu	37	chr17	7989533	7989533	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcactgcacggtgtactgGcccacctaggcaggatgcaa	9	6	14	12	1	0	0	0	0	0	0	0	1	0	1	2	5	3	5	2	5	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:7989533G>T	ENST00000319144.4	-	2	413	c.153C>A	c.(151-153)ggC>ggA	p.G51G	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	51	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGGTGTACTGGCCCACCTAGG	0.647										Multiple Myeloma(8;0.094)																												uc002gjy.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(151-153)ggC>ggA		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							70	58	62					17																	7989533		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7989533G>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.153C>A	17.37:g.7989533G>T		Multiple Myeloma(8;0.094)				MIR4314_uc021tpn.1_5'Flank	p.G51G	NM_001139	NP_001130	O75342	LX12B_HUMAN			1	414	-			51			PLAT.			Silent	SNP	ENST00000319144.4	37	c.153C>A	CCDS11129.1																																																																																				0.647	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			T	7989533	G	T	7989533	2	4	151	1	0	0	0	0	0	0	0	1	537	1190	42	5		5	ALOX12B	17	7989533	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		7989533	73205677	83	10431											
SMCR7	125170	broad.mit.edu	37	chr17	18167942	18167942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccctggagctgctcatcgGcagcctggagcaggccagcc	7	5	14	15	1	1	0	1	0	0	0	2	2	1	2	4	4	6	4	4	4	0	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:18167942G>A	ENST00000323019.4	+	4	1440	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	MIEF2_ENST00000395706.2_Missense_Mutation_p.G421D|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	410					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTGCTCATCGGCAGCCTGGAG	0.627																																						uc010vxq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1261-1263)gGc>gAc		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							42	41	41					17																	18167942		2202	4300	6502	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167942G>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1229G>A	17.37:g.18167942G>A	ENSP00000323591:p.Gly410Asp					SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.G410D	p.G421D	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN			3	1288	+	all_neural(463;0.228)		410					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.1262G>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077544	0.36662	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.07327	3.2;3.2	5.45	2.28	0.28536	.	0.246807	0.47852	N	0.000215	T	0.05547	0.0146	L	0.28400	0.85	0.27465	N	0.953026	B	0.20052	0.041	B	0.26770	0.073	T	0.33803	-0.9854	10	0.30854	T	0.27	-3.6878	2.9508	0.05861	0.2157:0.121:0.5386:0.1247	.	410	Q96C03	MID49_HUMAN	D	410;421	ENSP00000323591:G410D;ENSP00000379057:G421D	ENSP00000323591:G410D	G	+	2	0	SMCR7	18108667	0.016000	0.18221	0.014000	0.15608	0.951000	0.60555	1.947000	0.40293	0.232000	0.21100	0.462000	0.41574	GGC		0.627	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		A	18167942	G	A	18167942	3	1	151	1	0	0	0	0	1	0	0	0	14790	1203	42	3	1276	3	SMCR7	17	18167942	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	10178409	18167942	63027268	84	10432											
GPR179	440435	broad.mit.edu	37	chr17	36499092	36499092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcttcttcagggcagggGtgtccaggtccccaggaggg	5	8	16	12	1	2	0	1	0	1	0	5	1	4	1	3	6	0	2	3	6	0	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:36499092G>A	ENST00000342292.4	-	1	601	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	194					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGGCAGGGGTGTCCAGGTC	0.642																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(580-582)aCc>aTc		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							89	94	92					17																	36499092		1991	4141	6132	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499092G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.581C>T	17.37:g.36499092G>A	ENSP00000345060:p.Thr194Ile						p.T194I	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			0	602	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	194						Missense_Mutation	SNP	ENST00000342292.4	37	c.581C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803498	0.31869	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	4.95	-7.69	0.01263	.	0.932998	0.09100	N	0.848618	T	0.29524	0.0736	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.29640	-1.0005	10	0.54805	T	0.06	0.1153	3.0534	0.06176	0.1441:0.4241:0.1675:0.2643	.	194	Q6PRD1	GP179_HUMAN	I	194	ENSP00000345060:T194I	ENSP00000345060:T194I	T	-	2	0	GPR179	33752618	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	-0.111000	0.10807	-1.383000	0.02106	-0.345000	0.07892	ACC		0.642	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36499092	G	A	36499092	3	1	151	1	0	0	0	0	1	0	0	0	6674	1261	44	3	6566	3	GPR179	17	36499092	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	18331150	36499092	44696118	85	10433											
PPM1D	8493	broad.mit.edu	37	chr17	58740521	58740521	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccagaaccacttgaaGaaaattgcgctaaagccctg	16	7	8	10	1	0	4	0	1	0	3	1	4	1	4	3	0	3	1	3	0	7	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:58740521G>T	ENST00000305921.3	+	6	1658	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	476					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCACTTGAAGAAAATTGCGC	0.403											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1426-1428)Gaa>Taa		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.							103	96	98					17																	58740521		2203	4300	6503	SO:0001587	stop_gained	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740521G>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1426G>T	17.37:g.58740521G>T	ENSP00000306682:p.Glu476*		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.E476*	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1658	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		476					Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	37	c.1426G>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	39	7.495521	0.98319	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	6.08	0.98989	.	0.283455	0.40144	N	0.001176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.5088	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	476	.	ENSP00000306682:E476X	E	+	1	0	PPM1D	56095303	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.764000	0.74960	2.894000	0.99253	0.591000	0.81541	GAA		0.403	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		T	58740521	G	T	58740521	4	4	151	1	0	0	0	0	0	1	0	0	12337	943	33	5	1448	5	PPM1D	17	58740521	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	22241429	58740521	22454689	86	10434											
C17orf77	146723	broad.mit.edu	37	chr17	72588368	72588368	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctctcctctccttggTgatcacaggtgtctggtgcc	3	14	10	14	0	5	1	1	1	4	0	8	1	5	1	4	3	1	0	4	3	0	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:72588368T>G	ENST00000392620.1	+	3	545	c.183T>G	c.(181-183)ggT>ggG	p.G61G	C17orf77_ENST00000328023.2_Silent_p.G61G|CD300LD_ENST00000375352.1_5'UTR	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	61						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTCTCCTTGGTGATCACAGGT	0.537																																						uc002jla.1																			0				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(181-183)ggT>ggG		Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.							74	74	74					17																	72588368		2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588368T>G		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.183T>G	17.37:g.72588368T>G						CD300LD_uc002jkz.2_5'UTR|C17orf77_uc021ucq.1_Silent_p.G61G	p.G61G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			2	545	+			61						Silent	SNP	ENST00000392620.1	37	c.183T>G	CCDS32721.1																																																																																				0.537	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		G	72588368	T	G	72588368	2	3	151	1	0	0	0	0	0	0	0	1	1882	1683	59	5		5	C17orf77	17	72588368	Silent	SNP	T	TCGA-16-1048-01B-01D-1353-08	13847847	72588368	8606842	87	10435											
EMILIN2	84034	broad.mit.edu	37	chr18	2892201	2892201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcttgtaaggaatgcacGcagggggtccagagggaggt	10	7	18	6	1	0	1	0	0	0	1	1	4	1	3	1	5	2	4	1	5	2	2	rs3810066	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:2892201G>A	ENST00000254528.3	+	4	2235	c.2076G>A	c.(2074-2076)acG>acA	p.T692T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGAATGCACGCAGGGGGTCC	0.572													G|||	5	0.000998403	0	0	5008	,	,		18266	0.004		0.001	False		,,,				2504	0					uc002kln.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2074-2076)acG>acA		Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.		G		0,4406		0,0,2203	102	109	107		2076	-11	0	18	dbSNP_107	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EMILIN2	NM_032048.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		692/1054	2892201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892201G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2076G>A	18.37:g.2892201G>A							p.T692T	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	3	2235	+			692					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.2076G>A	CCDS11828.1																																																																																				0.572	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		A	2892201	G	A	2892201	2	1	151	1	0	0	0	0	0	0	0	1	5094	1074	38	1		1	EMILIN2	18	2892201	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		2892201	75185047	88	10436											
DCC	1630	broad.mit.edu	37	chr18	50592528	50592528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacagctcattgtccCtaagcctggtaagacaatgg	11	9	10	11	0	1	1	1	0	0	1	2	1	2	1	2	2	3	3	2	2	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:50592528C>A	ENST00000442544.2	+	7	1869	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	DCC_ENST00000581580.1_Missense_Mutation_p.P73H|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.P266H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	418					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATTGTCCCTAAGCCTGGT	0.438																																						uc002lfe.2																			0		p.P418T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1252-1254)cCt>cAt		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							137	122	127					18																	50592528		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592528C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1253C>A	18.37:g.50592528C>A	ENSP00000389140:p.Pro418His					DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.2_Missense_Mutation_p.P73H	p.P418H	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	6	1869	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	418						Missense_Mutation	SNP	ENST00000442544.2	37	c.1253C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370610	0.24771	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.81415	-1.49;-1.49	5.01	5.01	0.66863	.	0.083661	0.50627	D	0.000110	T	0.73313	0.3571	N	0.24115	0.695	0.36088	D	0.843287	B;B;P	0.36733	0.002;0.002;0.567	B;B;B	0.38755	0.002;0.002;0.281	T	0.81219	-0.1032	10	0.66056	D	0.02	.	17.4581	0.87613	0.0:1.0:0.0:0.0	.	266;266;418	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	418;351;266	ENSP00000389140:P418H;ENSP00000397322:P266H	ENSP00000304146:P351H	P	+	2	0	DCC	48846526	0.936000	0.31750	1.000000	0.80357	0.829000	0.46940	2.237000	0.43061	2.497000	0.84241	0.650000	0.86243	CCT		0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50592528	C	A	50592528	3	1	151	1	0	0	0	0	1	0	0	0	4282	681	24	5	1279	5	DCC	18	50592528	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	47700327	50592528	27484720	89	10437											
ZNF532	55205	broad.mit.edu	37	chr18	56587377	56587377	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgtgggtacaagtgcttgGagtgtggggactcctttgca	6	11	16	8	2	0	0	0	0	0	0	1	2	1	2	1	4	3	3	1	4	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:56587377G>T	ENST00000336078.4	+	4	2634	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	ZNF532_ENST00000591083.1_Nonsense_Mutation_p.E620*|ZNF532_ENST00000591808.1_Nonsense_Mutation_p.E620*|ZNF532_ENST00000591230.1_Nonsense_Mutation_p.E620*|ZNF532_ENST00000589288.1_Nonsense_Mutation_p.E620*	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGCTTGGAGTGTGGGGA	0.537																																						uc010xeg.2																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1858-1860)Gag>Tag		Homo sapiens zinc finger protein 532 (ZNF532), mRNA.							73	66	68					18																	56587377		2203	4300	6503	SO:0001587	stop_gained	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587377G>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1858G>T	18.37:g.56587377G>T	ENSP00000338217:p.Glu620*					ZNF532_uc002lhp.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lho.3_Nonsense_Mutation_p.E620*|ZNF532_uc002lhr.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.3_Nonsense_Mutation_p.E618*	p.E620*	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			2	2055	+			620					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Nonsense_Mutation	SNP	ENST00000336078.4	37	c.1858G>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	47	12.969617	0.99710	.	.	ENSG00000074657	ENST00000336078	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.1287	19.6535	0.95827	0.0:0.0:1.0:0.0	.	.	.	.	X	620	.	ENSP00000338217:E620X	E	+	1	0	ZNF532	54738357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.748000	0.94277	0.550000	0.68814	GAG		0.537	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56587377	G	T	56587377	4	4	151	1	0	0	0	0	0	1	0	0	17969	1175	41	5	1860	5	ZNF532	18	56587377	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	5994849	56587377	21489871	90	10438											
MC4R	4160	broad.mit.edu	37	chr18	58039346	58039346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcagatgaaaaagtaCatgggtgaatgcagattctt	15	10	11	5	0	1	4	0	2	1	2	1	4	1	4	0	1	4	4	0	1	5	3	rs536312911		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:58039346C>T	ENST00000299766.3	-	1	655	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	79					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGAAAAAGTACATGGGTGAAT	0.438													C|||	1	0.000199681	0	0	5008	,	,		23387	0		0	False		,,,				2504	0.001					uc002lie.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(235-237)atG>atA		Homo sapiens melanocortin 4 receptor (MC4R), mRNA.							103	99	101					18																	58039346		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039346C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.237G>A	18.37:g.58039346C>T	ENSP00000299766:p.Met79Ile						p.M79I	NM_005912	NP_005903	P32245	MC4R_HUMAN			0	656	-		Colorectal(73;0.0946)	79					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.237G>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537079	0.85812	.	.	ENSG00000166603	ENST00000299766	T	0.09350	2.99	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.25950	-1.0117	10	0.87932	D	0	.	17.3726	0.87382	0.0:1.0:0.0:0.0	.	79	P32245	MC4R_HUMAN	I	79	ENSP00000299766:M79I	ENSP00000299766:M79I	M	-	3	0	MC4R	56190326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.777000	0.95525	0.655000	0.94253	ATG		0.438	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		T	58039346	C	T	58039346	3	4	151	1	0	0	0	0	1	0	0	0	9366	478	17	3	765	3	MC4R	18	58039346	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	1451969	58039346	20037902	91	10439											
ARID3A	1820	broad.mit.edu	37	chr19	964263	964263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagggacacctgtgaaccGcatccccatcatggccaaac	11	5	8	17	1	1	1	1	1	0	0	2	2	2	2	6	2	2	1	6	2	2	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:964263G>A	ENST00000263620.3	+	5	1109	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	261	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGAACCGCATCCCCATC	0.637																																					Pancreas(29;54 1022 32760 50921)	uc002lql.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(781-783)cGc>cAc		Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.							114	93	100					19																	964263		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964263G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.782G>A	19.37:g.964263G>A	ENSP00000263620:p.Arg261His						p.R261H	NM_005224	NP_005215	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1072	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	261			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.782G>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578637	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.63744	-0.06	4.5	4.5	0.54988	ARID/BRIGHT DNA-binding domain (5);	0.111581	0.64402	D	0.000017	T	0.76371	0.3978	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.79820	-0.1642	10	0.87932	D	0	-1.9051	14.6615	0.68876	0.0:0.0:1.0:0.0	.	261	Q99856	ARI3A_HUMAN	H	261	ENSP00000263620:R261H	ENSP00000263620:R261H	R	+	2	0	ARID3A	915263	1.000000	0.71417	0.946000	0.38457	0.302000	0.27658	9.342000	0.97044	2.061000	0.61500	0.561000	0.74099	CGC		0.637	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		A	964263	G	A	964263	3	1	151	1	0	0	0	0	1	0	0	0	916	1087	38	1	796	1	ARID3A	19	964263	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		964263	58164720	92	10440											
FUT6	2528	broad.mit.edu	37	chr19	5832254	5832254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacatgacctctcggtGgtgcacgatgaccgcgtctg	6	11	13	11	4	2	2	0	2	2	0	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:5832254G>C	ENST00000318336.4	-	3	1519	c.325C>G	c.(325-327)Cac>Gac	p.H109D	FUT6_ENST00000524754.1_Missense_Mutation_p.H109D|FUT6_ENST00000527106.1_Missense_Mutation_p.H109D|FUT6_ENST00000286955.5_Missense_Mutation_p.H109D|FUT6_ENST00000592563.1_Missense_Mutation_p.H109D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	109					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTCTCGGTGGTGCACGATG	0.642																																						uc002mdf.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(325-327)Cac>Gac		Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.							83	72	76					19																	5832254		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832254G>C		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.325C>G	19.37:g.5832254G>C	ENSP00000313398:p.His109Asp					FUT6_uc021unl.1_Missense_Mutation_p.H109D|FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc021unm.1_Missense_Mutation_p.H109D	p.H109D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN			3	851	-			109					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.325C>G	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666761	0.67814	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	3.09	3.09	0.35607	.	0.000000	0.64402	D	0.000008	T	0.48370	0.1496	M	0.75264	2.295	0.36581	D	0.873543	D;D	0.71674	0.998;0.998	D;D	0.81914	0.993;0.995	T	0.62215	-0.6901	10	0.72032	D	0.01	.	12.3817	0.55311	0.0:0.0:1.0:0.0	.	109;109	C9J8A2;P51993	.;FUT6_HUMAN	D	109	ENSP00000431708:H109D;ENSP00000432954:H109D;ENSP00000313398:H109D;ENSP00000286955:H109D;ENSP00000436547:H109D	ENSP00000286955:H109D	H	-	1	0	FUT6	5783254	1.000000	0.71417	0.190000	0.23270	0.014000	0.08584	8.659000	0.91116	1.666000	0.50821	0.436000	0.28706	CAC		0.642	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		C	5832254	G	C	5832254	3	2	151	1	0	0	0	0	1	0	0	0	6108	1348	47	5	758	5	FUT6	19	5832254	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4867991	5832254	53296729	93	10441											
CYP2B6	1555	broad.mit.edu	37	chr19	41515999	41515999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccagcaccactctccGctacggcttcctgctcatgc	7	8	7	19	2	2	0	1	0	1	0	4	1	3	0	5	1	4	4	5	1	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:41515999G>A	ENST00000324071.4	+	6	930	c.923G>A	c.(922-924)cGc>cAc	p.R308H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	308					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACCACTCTCCGCTACGGCTTC	0.552																																						uc002opr.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(922-924)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						128	94	105					19																	41515999		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515999G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.923G>A	19.37:g.41515999G>A	ENSP00000324648:p.Arg308His					CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.R308H	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	930	+			308					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.923G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.353151	0.82132	.	.	ENSG00000197408	ENST00000324071	T	0.69435	-0.4	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.77820	2.39	0.80722	D	1	P	0.48089	0.905	P	0.49477	0.612	T	0.75317	-0.3360	10	0.72032	D	0.01	.	8.5509	0.33451	0.1032:0.0:0.8968:0.0	.	308	P20813	CP2B6_HUMAN	H	308	ENSP00000324648:R308H	ENSP00000324648:R308H	R	+	2	0	CYP2B6	46207839	0.186000	0.23225	0.999000	0.59377	0.990000	0.78478	2.600000	0.46240	2.394000	0.81467	0.550000	0.68814	CGC		0.552	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		A	41515999	G	A	41515999	3	1	151	1	0	0	0	0	1	0	0	0	4164	1087	38	1	945	1	CYP2B6	19	41515999	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	35683745	41515999	17612984	94	10442											
FOXA3	3171	broad.mit.edu	37	chr19	46375889	46375889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggctgctacctgcgccGccagaaacgcttcaagctgg	9	7	12	13	3	1	1	1	0	0	1	1	2	1	1	3	2	5	4	3	2	4	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:46375889G>A	ENST00000302177.2	+	2	823	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	209					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACCTGCGCCGCCAGAAACGC	0.627																																						uc002pdr.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(625-627)cGc>cAc		Homo sapiens forkhead box A3 (FOXA3), mRNA.							17	19	18					19																	46375889		2203	4296	6499	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375889G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.626G>A	19.37:g.46375889G>A	ENSP00000304004:p.Arg209His						p.R209H	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	1	823	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	209					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.626G>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555766	0.86231	.	.	ENSG00000170608	ENST00000302177	D	0.95821	-3.82	4.13	4.13	0.48395	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99100	1.0843	10	0.87932	D	0	.	14.2619	0.66090	0.0:0.0:1.0:0.0	.	209	P55318	FOXA3_HUMAN	H	209	ENSP00000304004:R209H	ENSP00000304004:R209H	R	+	2	0	FOXA3	51067729	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.573000	0.98181	2.278000	0.76064	0.453000	0.30009	CGC		0.627	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			A	46375889	G	A	46375889	3	1	151	1	0	0	0	0	1	0	0	0	5991	1087	38	1	632	1	FOXA3	19	46375889	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4859890	46375889	12753094	95	10443											
ANGPT4	51378	broad.mit.edu	37	chr20	869018	869018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagcagctggttctccAgcttgttggtggacagaaag	9	10	14	8	0	1	1	0	0	1	1	2	2	1	2	1	3	4	7	1	3	2	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:869018A>G	ENST00000381922.3	-	3	632	c.530T>C	c.(529-531)cTg>cCg	p.L177P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.L177P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	177					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCCAGCTTGTTGGT	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(529-531)cTg>cCg		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							94	83	87					20																	869018		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:869018A>G	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.530T>C	20.37:g.869018A>G	ENSP00000371347:p.Leu177Pro					ANGPT4_uc010zpn.2_Missense_Mutation_p.L171P	p.L177P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			2	633	-			177					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.530T>C	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	a	15.90	2.970165	0.53614	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13778	2.56;2.56	4.44	4.44	0.53790	.	0.113092	0.36338	N	0.002650	T	0.36166	0.0957	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.962	T	0.19943	-1.0290	10	0.87932	D	0	.	11.7257	0.51708	1.0:0.0:0.0:0.0	.	177;177	B4E3J9;Q9Y264	.;ANGP4_HUMAN	P	177	ENSP00000371347:L177P;ENSP00000439605:L177P	ENSP00000371347:L177P	L	-	2	0	ANGPT4	817018	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	8.755000	0.91646	1.875000	0.54330	0.248000	0.18094	CTG		0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		G	869018	A	G	869018	3	3	151	1	0	0	0	0	1	0	0	0	612	188	7	4	1009	4	ANGPT4	20	869018	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08		869018	62156502	96	10444											
DHX35	60625	broad.mit.edu	37	chr20	37632428	37632428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcgatgctcatcgagCaggctcgagcactagctcgc	7	10	12	12	4	1	0	1	0	0	0	5	3	1	0	0	1	4	5	0	1	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:37632428C>A	ENST00000252011.3	+	11	922	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	DHX35_ENST00000373325.2_Missense_Mutation_p.Q297K|DHX35_ENST00000373323.4_Missense_Mutation_p.Q266K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	297	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCTCATCGAGCAGGCTCGAGC	0.453																																						uc002xjh.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(889-891)Cag>Aag		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.							153	142	145					20																	37632428		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37632428C>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.889C>A	20.37:g.37632428C>A	ENSP00000252011:p.Gln297Lys					DHX35_uc010zwa.2_Missense_Mutation_p.Q142K|DHX35_uc010zwc.2_Missense_Mutation_p.Q266K|DHX35_uc010zwb.2_Missense_Mutation_p.Q142K	p.Q297K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			10	919	+		Myeloproliferative disorder(115;0.00878)	297			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.889C>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376671	0.42105	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	6.08	5.12	0.69794	Helicase, C-terminal (1);	0.097290	0.64402	D	0.000001	T	0.10337	0.0253	N	0.16368	0.405	0.80722	D	1	B;B	0.30104	0.074;0.268	B;B	0.22386	0.039;0.033	T	0.07927	-1.0747	10	0.54805	T	0.06	.	17.3569	0.87338	0.0:0.8751:0.1249:0.0	.	266;297	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	K	297;297;266;262	ENSP00000362422:Q297K;ENSP00000252011:Q297K;ENSP00000362420:Q266K;ENSP00000414630:Q262K	ENSP00000252011:Q297K	Q	+	1	0	DHX35	37065842	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.810000	0.62598	1.545000	0.49373	0.591000	0.81541	CAG		0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		A	37632428	C	A	37632428	3	1	151	1	0	0	0	0	1	0	0	0	4508	711	25	5	931	5	DHX35	20	37632428	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	36763410	37632428	25393092	97	10445											
BACH1	571	broad.mit.edu	37	chr21	30693606	30693606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatttgttatgcagaatgtCtctgagtgagaactcggttt	10	15	10	6	1	1	3	0	2	1	2	3	4	1	3	0	1	2	3	0	1	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:30693606C>G	ENST00000399921.1	+	2	248	c.5C>G	c.(4-6)tCt>tGt	p.S2C	BACH1_ENST00000286800.3_Missense_Mutation_p.S2C	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCAGAATGTCTCTGAGTGAG	0.403																																						uc002ynk.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(4-6)tCt>tGt		Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.							93	82	86					21																	30693606		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693606C>G	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.5C>G	21.37:g.30693606C>G	ENSP00000382805:p.Ser2Cys					BACH1_uc002ynj.3_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_Non-coding_Transcript	p.S2C	NM_206866	NP_996749	O14867	BACH1_HUMAN			1	248	+			2					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.5C>G	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737335	0.49045	.	.	ENSG00000156273	ENST00000548219;ENST00000550131;ENST00000547141;ENST00000546469;ENST00000286800;ENST00000399921;ENST00000548467;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.79141	-0.98;-0.98;-1.2;-1.19;-1.24	5.31	4.42	0.53409	.	0.080390	0.53938	D	0.000046	T	0.78489	0.4291	M	0.78801	2.425	0.46725	D	0.999177	D	0.53151	0.958	B	0.40901	0.343	T	0.82932	-0.0212	10	0.72032	D	0.01	-13.4956	16.2749	0.82640	0.0:0.8671:0.1329:0.0	.	2	O14867	BACH1_HUMAN	C	2	ENSP00000286800:S2C;ENSP00000382805:S2C;ENSP00000400576:S2C;ENSP00000408605:S2C;ENSP00000392202:S2C	ENSP00000286800:S2C	S	+	2	0	BACH1	29615477	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.159000	0.58157	1.358000	0.45922	0.460000	0.39030	TCT		0.403	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		G	30693606	C	G	30693606	3	3	151	1	0	0	0	0	1	0	0	0	1283	913	32	5	7	5	BACH1	21	30693606	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		30693606	17436289	98	10446											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078019	46078019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgcccgtgagctgcacGcgcattgtgtgcgtggctcc	4	10	14	13	4	0	1	0	1	0	0	1	1	1	1	2	1	5	5	2	1	0	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:46078019G>A	ENST00000397907.1	+	1	171	c.123G>A	c.(121-123)acG>acA	p.T41T	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	41	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAGCTGCACGCGCATTGTGT	0.637																																						uc002zft.3																			0		p.C40*(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(121-123)acG>acA		Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.							97	110	106					21																	46078019		2186	4267	6453	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078019G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.123G>A	21.37:g.46078019G>A						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.T41T	NM_198697	NP_941970	P60328	KR123_HUMAN			0	171	+			41			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.123G>A	CCDS42964.1																																																																																				0.637	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			A	46078019	G	A	46078019	2	1	151	1	0	0	0	0	0	0	0	1	8520	1074	38	1		1	KRTAP12-3	21	46078019	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	15384413	46078019	2051876	99	10447											
PARVG	64098	broad.mit.edu	37	chr22	44581720	44581720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctgccacccacttccCggaaggaccccaaatttgaa	13	7	6	15	1	0	1	0	1	0	0	1	3	1	3	6	2	2	0	6	2	5	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr22:44581720C>T	ENST00000444313.3	+	4	596	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	PARVG_ENST00000422871.1_Missense_Mutation_p.R38W|PARVG_ENST00000415224.1_Missense_Mutation_p.R38W|PARVG_ENST00000453888.3_3'UTR	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	38					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCCACTTCCCGGAAGGACCC	0.607																																						uc011aqe.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(112-114)Cgg>Tgg		Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.							73	59	64					22																	44581720		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581720C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.112C>T	22.37:g.44581720C>T	ENSP00000391583:p.Arg38Trp					PARVG_uc010gzo.3_Missense_Mutation_p.R105W|PARVG_uc021wra.1_Missense_Mutation_p.R38W|PARVG_uc003bep.3_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.R38W|PARVG_uc011aqf.2_Missense_Mutation_p.R38W|PARVG_uc021wrc.1_Non-coding_Transcript	p.R38W	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN			3	536	+		Ovarian(80;0.024)|all_neural(38;0.0299)	38					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.112C>T	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214322	0.58452	.	.	ENSG00000138964	ENST00000422871;ENST00000453888;ENST00000444313;ENST00000415224	T;T;T;T	0.60548	0.18;0.71;0.18;0.18	4.79	5.91E-4	0.14042	Calponin homology domain (1);	0.360042	0.22632	N	0.057569	T	0.66528	0.2798	M	0.77820	2.39	0.09310	N	1	D;D	0.76494	0.968;0.999	B;P	0.59115	0.291;0.852	T	0.58869	-0.7560	10	0.62326	D	0.03	0.217	7.3757	0.26827	0.5831:0.3327:0.0:0.0842	.	105;38	B4DDW5;Q9HBI0	.;PARVG_HUMAN	W	38;105;38;38	ENSP00000391453:R38W;ENSP00000416104:R105W;ENSP00000391583:R38W;ENSP00000416761:R38W	ENSP00000349378:R38W	R	+	1	2	PARVG	42913053	0.162000	0.22906	0.023000	0.16930	0.855000	0.48748	0.066000	0.14489	-0.181000	0.10619	0.655000	0.94253	CGG		0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		T	44581720	C	T	44581720	3	4	151	1	0	0	0	0	1	0	0	0	11470	643	23	2	118	2	PARVG	22	44581720	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		44581720	6722846	100	10448											
PHF8	23133	broad.mit.edu	37	chrX	53970579	53970579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctacctgctgggccagCtttgcagctgctgcagccaa	7	8	11	15	0	0	0	0	0	0	0	0	0	0	0	4	1	8	7	4	1	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:53970579C>T	ENST00000357988.5	-	20	3103	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	PHF8_ENST00000322659.8_Silent_p.K862K|PHF8_ENST00000338154.6_Silent_p.K879K|PHF8_ENST00000338946.6_Silent_p.K778K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	915					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGGCCAGCTTTGCAGCTG	0.592																																						uc004dsu.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2743-2745)aaG>aaA		Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.							49	37	41					X																	53970579		2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53970579C>T	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2745G>A	X.37:g.53970579C>T						PHF8_uc004dsv.3_Silent_p.K745K|PHF8_uc004dst.3_Silent_p.K879K|PHF8_uc004dsw.3_Silent_p.K778K|PHF8_uc004dsx.3_Silent_p.K643K|PHF8_uc004dsy.3_Silent_p.K862K	p.K915K	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN			19	2991	-			915					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.2745G>A	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.835|8.835	0.940821|0.940821	0.18281|0.18281	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000396282	.|.	.|.	.|.	4.96|4.96	-0.466|-0.466	0.12153|0.12153	.|.	.|.	.|.	.|.	.|.	T|T	0.56877|0.56877	0.2015|0.2015	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50197|0.50197	-0.8856|-0.8856	4|4	.|.	.|.	.|.	-14.4167|-14.4167	9.8541|9.8541	0.41075|0.41075	0.0:0.294:0.0:0.706|0.0:0.294:0.0:0.706	.|.	.|.	.|.	.|.	T|N	643|783	.|.	.|.	A|S	-|-	1|2	0|0	PHF8|PHF8	53987304|53987304	0.999000|0.999000	0.42202|0.42202	0.980000|0.980000	0.43619|0.43619	0.990000|0.990000	0.78478|0.78478	0.408000|0.408000	0.21065|0.21065	-0.303000|-0.303000	0.08856|0.08856	-0.402000|-0.402000	0.06365|0.06365	GCT|AGC		0.592	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		T	53970579	C	T	53970579	2	4	151	1	0	0	0	0	0	0	0	1	11840	796	28	3		3	PHF8	23	53970579	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08		53970579	101299981	101	10449											
ITIH5L	347365	broad.mit.edu	37	chrX	54784130	54784130	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgagtgccccaagttGggggtgcgatggagcaccag	8	8	17	8	1	0	2	0	2	0	0	0	4	0	3	3	3	3	2	3	3	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:54784130G>A	ENST00000218436.6	-	8	2406	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	793	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCCCCAAGTTGGGGGTGCGAT	0.552																																						uc004dtj.2																			0											c.(2377-2379)Caa>Taa		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							113	96	102					X																	54784130		2203	4300	6503	SO:0001587	stop_gained	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784130G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2377C>T	X.37:g.54784130G>A	ENSP00000218436:p.Gln793*						p.Q793*	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	2407	-			793			Pro-rich.		A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	c.2377C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860767	0.71834	.	.	ENSG00000102313	ENST00000218436	.	.	.	3.55	0.0885	0.14455	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	5.5289	0.16972	0.1144:0.0:0.5022:0.3834	.	.	.	.	X	793	.	ENSP00000218436:Q793X	Q	-	1	0	ITIH5L	54800855	0.016000	0.18221	0.006000	0.13384	0.245000	0.25701	0.565000	0.23578	0.356000	0.24157	0.462000	0.41574	CAA		0.552	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		A	54784130	G	A	54784130	4	1	151	1	0	0	0	0	0	1	0	0	7908	1357	47	3	1588	3	ITIH5L	23	54784130	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	813551	54784130	100486430	102	10450											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966471	4966471	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtctttaaggagacAgagattgaagtcagtatacc	14	9	9	9	0	2	3	1	1	1	2	2	5	2	3	2	1	1	1	2	1	4	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrY:4966471A>G	ENST00000333703.4	+	5	1332	c.819A>G	c.(817-819)acA>acG	p.T273T	PCDH11Y_ENST00000215473.6_Silent_p.T284T|PCDH11Y_ENST00000362095.5_Silent_p.T284T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	284	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAAGGAGACAGAGATTGAAG	0.428																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(850-852)acA>acG		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4966471A>G	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.819A>G	Y.37:g.4966471A>G						PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T	p.T284T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	1586	+			284			Cadherin 3.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.852A>G	CCDS14776.1																																																																																				0.428	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		G	4966471	A	G	4966471	2	3	151	1	0	0	0	0	0	0	0	1	11509	175	7	4		4	PCDH11Y	24	4966471	Silent	SNP	A	TCGA-16-1048-01B-01D-1353-08		4966471	54407095	103	10451											
EPHA10	284656	broad.mit.edu	37	chr1	38227511	38227511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctaggcggggacgcccaCggcccaggtcggcctcagtt	5	5	15	16	5	1	0	1	0	0	0	2	1	1	1	4	6	0	1	4	6	1	2	rs370045860		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:38227511C>T	ENST00000373048.4	-	3	415	c.416G>A	c.(415-417)cGt>cAt	p.R139H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R139H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R139H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	139	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R139H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGCCCACGGCCCAGGTC	0.657																																						uc009vvi.3																			1	Substitution - Missense(1)	p.R139H(2)	endometrium(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(415-417)cGt>cAt		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	39	45	43		416,416	2.8	0.9	1		43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHA10	NM_001099439.1,NM_173641.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	139/1009,139/296	38227511	1,13005	2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227511C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.416G>A	1.37:g.38227511C>T	ENSP00000362139:p.Arg139His					EPHA10_uc001cbw.4_Missense_Mutation_p.R139H	p.R139H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	502	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	139					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.416G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292528	0.40594	0.0	1.16E-4	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03689	3.84;3.84;3.84	4.75	2.84	0.33178	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.186987	0.26489	N	0.024100	T	0.04452	0.0122	L	0.58101	1.795	0.42271	D	0.992052	B;B	0.18863	0.031;0.008	B;B	0.09377	0.003;0.004	T	0.30563	-0.9974	10	0.66056	D	0.02	.	4.8612	0.13585	0.1546:0.606:0.0:0.2394	.	139;139	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	139	ENSP00000397746:R139H;ENSP00000362139:R139H;ENSP00000316395:R139H	ENSP00000316395:R139H	R	-	2	0	EPHA10	38000098	0.009000	0.17119	0.850000	0.33497	0.906000	0.53458	0.326000	0.19646	0.682000	0.31407	0.643000	0.83706	CGT		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227511	C	T	38227511	3	4	152	1	0	0	0	0	1	0	0	0	5166	536	19	1	2708	1	EPHA10	1	38227511	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		38227511	211023110	1	10452											
KIAA0467	23334	broad.mit.edu	37	chr1	43905598	43905598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggatgtgtgggaaaagggGaacattagtattgtgcagct	11	12	15	3	0	0	0	0	0	0	0	0	3	0	3	0	4	3	3	0	4	5	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:43905598G>A	ENST00000562955.1	+	50	6918	c.6918G>A	c.(6916-6918)ggG>ggA	p.G2306G	SZT2_ENST00000372442.1_Silent_p.G1464G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2363					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGAAAAGGGGAACATTAGTA	0.567																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4390-4392)ggG>ggA		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							83	86	85					1																	43905598		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43905598G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6918G>A	1.37:g.43905598G>A							p.G1464G	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			49	7002	+			2363					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.4392G>A	CCDS30694.2																																																																																				0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43905598	G	A	43905598	2	1	152	1	0	0	0	0	0	0	0	1	8178	1161	41	3		3	KIAA0467	1	43905598	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	5678087	43905598	205345023	2	10453											
DAB1	1600	broad.mit.edu	37	chr1	57535099	57535099	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcaaacacaatgtaCtattacaggagcagccagaa	16	6	7	12	0	1	1	1	0	0	1	1	2	1	2	3	1	6	2	3	1	6	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:57535099C>T	ENST00000371231.1	-	7	632		c.e7-1		DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACACAATGTACTATTACAGGA	0.413																																						uc009vzx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e8-1		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.							103	97	99					1																	57535099		2203	4300	6503	SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57535099C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.598-1G>A	1.37:g.57535099C>T						DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Splice_Site_p.Y200_splice	p.Y200_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN			8	918	-			200					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	SNP	ENST00000371231.1	37	c.598_splice		.	.	.	.	.	.	.	.	.	.	C	27.7	4.854344	0.91355	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DAB1	57307687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.882000	0.98803	0.655000	0.94253	.		0.413	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	T	57535099	C	T	57535099	5	4	152	1	0	0	0	0	0	0	1	0	4217	579	20	3	1098	3	DAB1	1	57535099	Splice_Site	SNP	C	TCGA-19-1390-01A-01D-1495-08	13629501	57535099	191715522	3	10454											
FPGT	8790	broad.mit.edu	37	chr1	74665467	74665467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagaaaggagttacccCttggagttcaatatcacgtt	14	11	9	7	1	2	2	2	1	0	1	2	4	2	4	2	2	1	3	2	2	6	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:74665467C>T	ENST00000609362.1	+	2	239	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	FPGT_ENST00000482102.2_Missense_Mutation_p.L90F|FPGT_ENST00000534056.1_Missense_Mutation_p.L68F|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000370898.3_Missense_Mutation_p.L81F|LRRIQ3_ENST00000370911.3_5'Flank|LRRIQ3_ENST00000370909.2_5'Flank|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000524915.1_3'UTR|FPGT_ENST00000370894.5_Missense_Mutation_p.L68F|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.L68F|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L81F|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.L68F|FPGT_ENST00000467578.2_Missense_Mutation_p.L81F|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.L68F	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	68					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GGAGTTACCCCTTGGAGTTCA	0.403																																						uc001dge.2																			0											c.(202-204)Ctt>Ttt		Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.							146	139	142					1																	74665467		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665467C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.202C>T	1.37:g.74665467C>T	ENSP00000476680:p.Leu68Phe					LRRIQ3_uc001dfy.4_5'Flank|LRRIQ3_uc001dfz.4_5'Flank|FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqu.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgb.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqt.2_Missense_Mutation_p.L68F	p.L68F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN			1	269	+			0					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.202C>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212180	0.79240	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.76448	1.46;0.88;-1.02;-0.72;-1.01;-1.01	4.79	3.86	0.44501	.	0.096519	0.43110	D	0.000618	T	0.77883	0.4197	L	0.50333	1.59	0.26896	N	0.967227	P;D;D;D;B;B	0.76494	0.654;0.999;0.99;0.982;0.013;0.44	B;D;P;P;B;B	0.68765	0.349;0.96;0.776;0.839;0.013;0.127	T	0.69764	-0.5057	10	0.66056	D	0.02	.	12.4091	0.55457	0.0:0.917:0.0:0.083	.	68;68;68;68;68;68	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	F	68;68;90;68;68;68;66;68;68;68;68;68;68	ENSP00000359935:L68F;ENSP00000432819:L68F;ENSP00000359936:L68F;ENSP00000359932:L68F;ENSP00000450895:L68F;ENSP00000359928:L68F	ENSP00000359928:L68F	L	+	1	0	RP11-653A5.2;TNNI3K;AC093158.1	74438055	0.976000	0.34144	0.994000	0.49952	0.994000	0.84299	2.410000	0.44592	2.345000	0.79718	0.585000	0.79938	CTT		0.403	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	74665467	C	T	74665467	3	4	152	1	0	0	0	0	1	0	0	0	6037	681	24	3	208	3	FPGT	1	74665467	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	17130368	74665467	174585154	4	10455											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877752	76877752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcaggtcagatggttggCcagaaggtgggaaatgagat	13	8	15	5	0	2	3	2	1	0	3	2	5	2	4	1	5	1	1	1	5	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:76877752C>T	ENST00000328299.3	+	3	421	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	91					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGATGGTTGGCCAGAAGGTGG	0.448																																						uc001dhh.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(271-273)ggC>ggT		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.							114	100	105					1																	76877752		2203	4300	6503	SO:0001819	synonymous_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877752C>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.273C>T	1.37:g.76877752C>T						ST6GALNAC3_uc001dhg.4_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	p.G91G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			2	436	+			91					Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	c.273C>T	CCDS672.1																																																																																				0.448	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		T	76877752	C	T	76877752	2	4	152	1	0	0	0	0	0	0	0	1	15224	726	26	3		3	ST6GALNAC3	1	76877752	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	2212285	76877752	172372869	5	10456											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854614	144854614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgctcctgtttggataCtttggttctcagttccagaa	7	15	10	9	1	1	1	1	0	1	1	5	3	3	2	2	2	1	4	2	2	2	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:144854614C>T	ENST00000369354.3	-	42	7045	c.6856G>A	c.(6856-6858)Gta>Ata	p.V2286I	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V2371I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V2286I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V2180I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V2422I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2286					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTGGATACTTTGGTTCTC	0.498			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6856-6858)Gta>Ata		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							270	229	243					1																	144854614		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854614C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6856G>A	1.37:g.144854614C>T	ENSP00000358360:p.Val2286Ile					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.V2286I|PDE4DIP_uc001elx.4_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.4_Missense_Mutation_p.V1293I	p.V2286I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	41	7158	-			2286					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6856G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	7.008	0.556228	0.13436	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01474	4.85;4.94;4.93;4.91;4.94	4.0	-1.75	0.08031	.	.	.	.	.	T	0.00384	0.0012	N	0.20685	0.6	0.21841	N	0.999511	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45454	-0.9260	9	0.41790	T	0.15	.	1.5846	0.02641	0.1841:0.4502:0.1586:0.2071	.	2180;2286	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	2180;2286;2286;2371;2422	ENSP00000327209:V2180I;ENSP00000358360:V2286I;ENSP00000358363:V2286I;ENSP00000435654:V2371I;ENSP00000358366:V2422I	ENSP00000327209:V2180I	V	-	1	0	PDE4DIP	143565971	0.334000	0.24739	0.031000	0.17742	0.451000	0.32288	0.263000	0.18478	0.019000	0.15079	-0.656000	0.03901	GTA		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144854614	C	T	144854614	3	4	152	1	0	0	0	0	1	0	0	0	11643	565	20	3	196	3	PDE4DIP	1	144854614	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	67976862	144854614	104396007	6	10457											
LCE1E	353135	broad.mit.edu	37	chr1	152760044	152760044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcccaccgtcacagacCccagagctctgactgctgca	9	6	9	17	1	2	3	1	1	1	2	3	3	3	3	4	1	3	3	4	1	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:152760044C>A	ENST00000368770.3	+	2	322	c.269C>A	c.(268-270)cCc>cAc	p.P90H	LCE1E_ENST00000368771.1_Missense_Mutation_p.P90H	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	90	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCACAGACCCCAGAGCTCT	0.687																																						uc021ozg.1																			0				lung(5)|stomach(1)	6						c.(268-270)cCc>cAc		Homo sapiens late cornified envelope 1E (LCE1E), mRNA.							35	47	43					1																	152760044		2199	4298	6497	SO:0001583	missense	353135				keratinization			g.chr1:152760044C>A	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.269C>A	1.37:g.152760044C>A	ENSP00000357759:p.Pro90His					LCE1E_uc001fan.3_Missense_Mutation_p.P90H	p.P90H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	269	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.269C>A	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	C	0.214	-1.034437	0.02029	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.03717	3.83;3.83	3.73	-7.32	0.01436	.	.	.	.	.	T	0.00552	0.0018	N	0.04260	-0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52162	-0.8612	9	0.87932	D	0	.	7.4079	0.27001	0.1687:0.5119:0.3193:0.0	.	90	Q5T753	LCE1E_HUMAN	H	90	ENSP00000357760:P90H;ENSP00000357759:P90H	ENSP00000357759:P90H	P	+	2	0	LCE1E	151026668	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.250000	0.02885	-1.183000	0.02723	-0.413000	0.06143	CCC		0.687	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		A	152760044	C	A	152760044	3	1	152	1	0	0	0	0	1	0	0	0	8663	623	22	5	271	5	LCE1E	1	152760044	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	7905430	152760044	96490577	7	10458											
RGS4	5999	broad.mit.edu	37	chr1	163044110	163044110	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcctttgcccctcaGgtgaacctggattcttgcac	5	12	10	14	0	2	1	1	1	1	0	2	2	2	2	5	3	3	1	5	3	1	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:163044110G>A	ENST00000367909.6	+	5	718		c.e5-1		RGS4_ENST00000367906.3_Splice_Site|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_Splice_Site|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_Splice_Site|RGS4_ENST00000527809.1_Splice_Site	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGCCCCTCAGGTGAACCTGG	0.488																																					Ovarian(76;1257 1738 3039 6086)	uc001gcl.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.e6-1		Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.							146	149	148					1																	163044110		2203	4300	6503	SO:0001630	splice_region_variant	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044110G>A	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.379-1G>A	1.37:g.163044110G>A						RGS4_uc009wuy.3_Splice_Site_p.V127_splice|RGS4_uc009wuz.3_Splice_Site_p.C71_splice|RGS4_uc009wva.3_Splice_Site_p.V109_splice	p.V224_splice	NM_001102445	NP_001106851	P49798	RGS4_HUMAN			6	999	+			127					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Splice_Site	SNP	ENST00000367909.6	37	c.670_splice	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049547	0.75846	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367908;ENST00000367906;ENST00000528938	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4355	0.75143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS4	161310734	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.350000	0.97070	2.478000	0.83669	0.655000	0.94253	.		0.488	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	Intron	A	163044110	G	A	163044110	5	1	152	1	0	0	0	0	0	0	1	0	13307	1014	35	3	691	3	RGS4	1	163044110	Splice_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	10284066	163044110	86206511	8	10459											
C1orf129	80133	broad.mit.edu	37	chr1	170928687	170928687	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttgtcatgccaagtctTgacaaagtaaaagaaatggg	15	10	10	6	0	2	2	1	1	1	1	2	2	2	2	1	1	1	2	1	1	6	4	rs368711198		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:170928687T>G	ENST00000367758.3	+	5	336	c.237T>G	c.(235-237)ctT>ctG	p.L79L	MROH9_ENST00000367759.4_Silent_p.L79L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	79																	TGCCAAGTCTTGACAAAGTAA	0.363																																						uc010plz.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(235-237)ctT>ctG		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.		T	,	2,3690		0,2,1844	126	116	119		237,237	-1.8	0	1		119	0,8212		0,0,4106	no	coding-synonymous,coding-synonymous	C1orf129	NM_001163629.1,NM_025063.2	,	0,2,5950	GG,GT,TT		0.0,0.0542,0.0168	,	79/862,79/574	170928687	2,11902	1846	4106	5952	SO:0001819	synonymous_variant	80133						binding	g.chr1:170928687T>G	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.237T>G	1.37:g.170928687T>G						C1orf129_uc001ghg.3_Silent_p.L79L|C1orf129_uc009wvy.3_5'UTR	p.L79L	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			4	391	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		79					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.237T>G	CCDS41436.1																																																																																				0.363	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		G	170928687	T	G	170928687	2	3	152	1	0	0	0	0	0	0	0	1	1996	1799	63	5		5	C1orf129	1	170928687	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	7884577	170928687	78321934	9	10460											
CACNA1E	777	broad.mit.edu	37	chr1	181693656	181693656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggataatctcgccaacGcccaggaactgaccaaggta	12	7	10	12	2	1	1	0	1	1	0	2	3	1	3	3	3	2	1	3	3	5	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:181693656G>A	ENST00000367573.2	+	17	2125	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A316T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A709T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A709T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A709T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A660T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A660T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	709					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCGCCAACGCCCAGGAACT	0.463																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2125-2127)Gcc>Acc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							132	126	128					1																	181693656		1984	4171	6155	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693656G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2125G>A	1.37:g.181693656G>A	ENSP00000356545:p.Ala709Thr					CACNA1E_uc001gow.3_Missense_Mutation_p.A709T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A709T	p.A709T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			16	2320	+			709					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2125G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047615	0.55110	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96885	-4.14;-4.14;-4.14;-4.12;-4.16;-4.15;-4.15	4.86	4.86	0.63082	.	0.149284	0.64402	D	0.000012	D	0.97111	0.9056	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.98122	1.0426	10	0.87932	D	0	.	17.9496	0.89048	0.0:0.0:1.0:0.0	.	709;709	Q15878-2;Q15878-3	.;.	T	709;709;660;660;316;709;709	ENSP00000356542:A709T;ENSP00000434814:A709T;ENSP00000350183:A660T;ENSP00000351101:A660T;ENSP00000356539:A316T;ENSP00000353222:A709T;ENSP00000356545:A709T	ENSP00000350183:A660T	A	+	1	0	CACNA1E	179960279	1.000000	0.71417	0.983000	0.44433	0.202000	0.24057	9.675000	0.98638	2.390000	0.81377	0.462000	0.41574	GCC		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181693656	G	A	181693656	3	1	152	1	0	0	0	0	1	0	0	0	2542	1087	38	1	2191	1	CACNA1E	1	181693656	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	10764969	181693656	67556965	10	10461											
C4BPA	722	broad.mit.edu	37	chr1	207300203	207300203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaattcattgtgatgctgaTagcaaatggaatccttctcc	11	14	8	8	0	2	2	1	2	1	0	4	3	3	3	2	1	2	3	2	1	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:207300203T>C	ENST00000367070.3	+	7	1046	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	284	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGATGCTGATAGCAAATGGA	0.403																																						uc001hfo.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(850-852)gaT>gaC		Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.							179	150	160					1																	207300203		2203	4300	6503	SO:0001819	synonymous_variant	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207300203T>C	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.852T>C	1.37:g.207300203T>C							p.D284D	NM_000715	NP_000706	P04003	C4BPA_HUMAN			6	1046	+			284			Sushi 4.		Q5VVQ8	Silent	SNP	ENST00000367070.3	37	c.852T>C	CCDS1477.1																																																																																				0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			C	207300203	T	C	207300203	2	2	152	1	0	0	0	0	0	0	0	1	2249	1403	49	4		4	C4BPA	1	207300203	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	25606547	207300203	41950418	11	10462											
PARP1	142	broad.mit.edu	37	chr1	226550806	226550806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacactttacctttgaCactgtgcttgcccttgggta	8	14	9	10	0	0	1	0	1	0	0	0	2	0	2	2	2	4	2	2	2	3	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:226550806C>T	ENST00000366794.5	-	21	2985	c.2842G>A	c.(2842-2844)Gtc>Atc	p.V948I	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	948	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCTTTGACACTGTGCTTG	0.527								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2842-2844)Gtc>Atc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.							195	157	170					1																	226550806		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226550806C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2842G>A	1.37:g.226550806C>T	ENSP00000355759:p.Val948Ile						p.V948I	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	20	3013	-	Breast(184;0.133)		948			PARP catalytic.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2842G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553476	0.96501	.	.	ENSG00000143799	ENST00000366794	T	0.15487	2.42	5.77	5.77	0.91146	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.72576	2.205	0.80722	D	1	D	0.54207	0.965	P	0.55615	0.78	T	0.02031	-1.1226	10	0.41790	T	0.15	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	948	P09874	PARP1_HUMAN	I	948	ENSP00000355759:V948I	ENSP00000355759:V948I	V	-	1	0	PARP1	224617429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.715000	0.92844	0.655000	0.94253	GTC		0.527	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		T	226550806	C	T	226550806	3	4	152	1	0	0	0	0	1	0	0	0	11454	478	17	3	214	3	PARP1	1	226550806	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	19250603	226550806	22699815	12	10463											
RYR2	6262	broad.mit.edu	37	chr1	237789020	237789020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttaacaattagagggCgtctgctatccctggtagaa	11	12	11	7	1	1	3	0	1	1	2	2	3	2	3	1	2	2	2	1	2	6	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:237789020C>T	ENST00000366574.2	+	40	6399	c.6082C>T	c.(6082-6084)Cgt>Tgt	p.R2028C	RYR2_ENST00000360064.6_Missense_Mutation_p.R2026C|RYR2_ENST00000542537.1_Missense_Mutation_p.R2012C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2028	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTAGAGGGCGTCTGCTATC	0.393																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6082-6084)Cgt>Tgt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							121	114	116					1																	237789020		1848	4095	5943	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237789020C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6082C>T	1.37:g.237789020C>T	ENSP00000355533:p.Arg2028Cys						p.R2028C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6202	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2028			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6082C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115050	0.94339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73575	-0.76;-0.76;-0.76	5.61	5.61	0.85477	.	0.000000	0.53938	U	0.000046	D	0.86838	0.6029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	D	0.89209	0.3563	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	2028	Q92736	RYR2_HUMAN	C	2028;2026;2012	ENSP00000355533:R2028C;ENSP00000353174:R2026C;ENSP00000443798:R2012C	ENSP00000353174:R2026C	R	+	1	0	RYR2	235855643	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	3.800000	0.55537	2.644000	0.89710	0.655000	0.94253	CGT		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237789020	C	T	237789020	3	4	152	1	0	0	0	0	1	0	0	0	13769	768	27	1	6240	1	RYR2	1	237789020	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11238214	237789020	11461601	13	10464											
OR2T27	403239	broad.mit.edu	37	chr1	248814164	248814164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggataaagtcggcatacaCggaataattgctctgctcca	14	9	9	9	2	1	0	0	0	1	0	3	2	2	2	1	3	3	3	1	3	6	4	rs144642254	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:248814164C>T	ENST00000344889.3	-	1	21	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCATACACGGAATAATTG	0.433													C|||	2	0.000399361	8e-04	0	5008	,	,		27223	0		0.001	False		,,,				2504	0					uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(22-24)Gtg>Atg		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.		C	MET/VAL	1,4401		0,1,2200	59	53	55		22	-1.2	0.1	1	dbSNP_134	55	2,8560		0,2,4279	no	missense	OR2T27	NM_001001824.1	21	0,3,6479	TT,TC,CC		0.0234,0.0227,0.0231	benign	8/318	248814164	3,12961	2201	4281	6482	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814164C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.22G>A	1.37:g.248814164C>T	ENSP00000342008:p.Val8Met						p.V8M	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	22	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	8						Missense_Mutation	SNP	ENST00000344889.3	37	c.22G>A	CCDS31124.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.096	-1.159772	0.01686	2.27E-4	2.34E-4	ENSG00000187701	ENST00000344889	T	0.20069	2.1	2.67	-1.21	0.09524	.	0.511458	0.16445	N	0.214124	T	0.09598	0.0236	N	0.16833	0.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21280	-1.0250	10	0.33940	T	0.23	.	4.2872	0.10860	0.0:0.3486:0.1812:0.4702	.	8	Q8NH04	O2T27_HUMAN	M	8	ENSP00000342008:V8M	ENSP00000342008:V8M	V	-	1	0	OR2T27	246880787	0.000000	0.05858	0.068000	0.19968	0.047000	0.14425	-0.019000	0.12546	-0.254000	0.09500	0.194000	0.17425	GTG		0.433	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		T	248814164	C	T	248814164	3	4	152	1	0	0	0	0	1	0	0	0	11021	536	19	1	934	1	OR2T27	1	248814164	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11025144	248814164	436457	14	10465											
NCOA1	8648	broad.mit.edu	37	chr2	24929877	24929877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctttcctcctaatatttCgacattaagctctcccgttg	7	17	4	13	2	1	0	0	0	1	0	6	1	4	0	4	0	1	2	4	0	3	7			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:24929877C>T	ENST00000406961.1	+	13	2190	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	NCOA1_ENST00000405141.1_Missense_Mutation_p.S513L|NCOA1_ENST00000348332.3_Missense_Mutation_p.S513L|NCOA1_ENST00000407230.1_Missense_Mutation_p.S362L|NCOA1_ENST00000288599.5_Missense_Mutation_p.S513L|NCOA1_ENST00000395856.3_Missense_Mutation_p.S513L|NCOA1_ENST00000538539.1_Missense_Mutation_p.S513L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	513	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAATATTTCGACATTAAGC	0.418			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.3				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1537-1539)tCg>tTg		Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.							88	93	91					2																	24929877		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929877C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1538C>T	2.37:g.24929877C>T	ENSP00000385216:p.Ser513Leu					NCOA1_uc010eye.3_Missense_Mutation_p.S513L|NCOA1_uc002rfi.3_Missense_Mutation_p.S362L|NCOA1_uc002rfj.3_Missense_Mutation_p.S513L|NCOA1_uc002rfl.3_Missense_Mutation_p.S513L	p.S513L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			10	1797	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		513			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1538C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837483	0.50951	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02015	4.62;4.62;4.5;4.62;4.62;4.62;4.62	5.22	5.22	0.72569	.	0.217379	0.48286	D	0.000199	T	0.02533	0.0077	N	0.22421	0.69	0.28744	N	0.901825	B;B;B;B	0.30526	0.283;0.186;0.098;0.118	B;B;B;B	0.24394	0.053;0.014;0.04;0.012	T	0.39742	-0.9599	10	0.49607	T	0.09	.	18.7358	0.91753	0.0:1.0:0.0:0.0	.	513;513;513;362	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	L	513;513;362;513;513;513;513	ENSP00000385216:S513L;ENSP00000385097:S513L;ENSP00000385195:S362L;ENSP00000444039:S513L;ENSP00000320940:S513L;ENSP00000288599:S513L;ENSP00000379197:S513L	ENSP00000288599:S513L	S	+	2	0	NCOA1	24783381	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	5.706000	0.68362	2.594000	0.87642	0.650000	0.86243	TCG		0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		T	24929877	C	T	24929877	3	4	152	1	0	0	0	0	1	0	0	0	10228	893	31	2	1572	2	NCOA1	2	24929877	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		24929877	218269496	15	10466											
FAM179A	165186	broad.mit.edu	37	chr2	29268218	29268218	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctaccagcgcttgcTgggcgagtgcgtttcctgag	4	12	13	12	3	1	1	0	1	1	0	2	2	2	1	3	1	5	3	3	1	1	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:29268218T>A	ENST00000379558.4	+	19	3015	c.2664T>A	c.(2662-2664)gcT>gcA	p.A888A	FAM179A_ENST00000403861.2_Silent_p.A833A|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	888										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCGCTTGCTGGGCGAGTGC	0.627																																						uc010ezl.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2662-2664)gcT>gcA		Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.							108	108	108					2																	29268218		2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29268218T>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2664T>A	2.37:g.29268218T>A						FAM179A_uc010ymm.2_Silent_p.A833A|FAM179A_uc002rmr.4_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	p.A888A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			18	3015	+			888					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2664T>A	CCDS1769.2																																																																																				0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		A	29268218	T	A	29268218	2	1	152	1	0	0	0	0	0	0	0	1	5505	1567	55	5		5	FAM179A	2	29268218	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	4338341	29268218	213931155	16	10467											
CYP1B1	1545	broad.mit.edu	37	chr2	38302345	38302345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggcccaccgccgccgCgtttccgatcagtggccacg	4	6	12	19	7	1	0	1	0	0	0	2	1	2	0	7	2	0	1	7	2	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:38302345C>T	ENST00000260630.3	-	2	588	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	CYP1B1_ENST00000407341.1_Missense_Mutation_p.A63T|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	63					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	ACCGCCGCCGCGTTTCCGATC	0.721																																						uc002rqo.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(187-189)Gcg>Acg		Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	Estrone(DB00655)						6	8	7					2																	38302345		2106	4111	6217	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38302345C>T	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.187G>A	2.37:g.38302345C>T	ENSP00000260630:p.Ala63Thr						p.A63T	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			1	589	-		all_hematologic(82;0.21)	63					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.187G>A	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154379	0.57259	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69926	-0.44;-0.44	4.42	4.42	0.53409	.	0.178825	0.48286	D	0.000199	T	0.80732	0.4679	M	0.77820	2.39	0.40277	D	0.978358	D	0.89917	1.0	D	0.71656	0.974	D	0.83820	0.0246	10	0.62326	D	0.03	.	14.5818	0.68298	0.0:1.0:0.0:0.0	.	63	Q53TK1	.	T	63	ENSP00000260630:A63T;ENSP00000384972:A63T	ENSP00000260630:A63T	A	-	1	0	CYP1B1	38155849	1.000000	0.71417	0.301000	0.25044	0.010000	0.07245	4.476000	0.60216	2.293000	0.77203	0.591000	0.81541	GCG		0.721	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		T	38302345	C	T	38302345	3	4	152	1	0	0	0	0	1	0	0	0	4151	768	27	1	1452	1	CYP1B1	2	38302345	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	9034127	38302345	204897028	17	10468											
ALMS1	7840	broad.mit.edu	37	chr2	73651879	73651879	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgaaaacaatttagcTgataaagatcaagtttcagt	15	12	8	6	0	2	3	2	2	0	1	2	3	2	3	1	1	2	2	1	1	7	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:73651879T>A	ENST00000264448.6	+	5	1197	c.1086T>A	c.(1084-1086)gcT>gcA	p.A362A	ALMS1_ENST00000409009.1_Silent_p.A320A|ALMS1_ENST00000377715.1_Silent_p.A362A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	362					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAATTTAGCTGATAAAGATC	0.358																																						uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1084-1086)gcT>gcA		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							87	79	82					2																	73651879		1863	4113	5976	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73651879T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1086T>A	2.37:g.73651879T>A						ALMS1_uc002sjf.1_Silent_p.A320A	p.A362A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			4	1197	+			362					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.1086T>A	CCDS42697.1																																																																																				0.358	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73651879	T	A	73651879	2	1	152	1	0	0	0	0	0	0	0	1	535	1567	55	5		5	ALMS1	2	73651879	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	35349534	73651879	169547494	18	10469											
DQX1	165545	broad.mit.edu	37	chr2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcactgagtggaggaCgggtaaacccaggggcagct	9	7	15	10	1	1	1	0	1	1	0	1	3	1	3	1	5	3	4	1	5	2	2	rs200754645		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:74747143C>T	ENST00000404568.3	-	9	1733	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_ENST00000393951.2_Missense_Mutation_p.R505H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	505						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527																																						uc010yrw.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1513-1515)cGt>cAt		Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.		C	HIS/ARG	0,4406		0,0,2203	73	77	75		1514	-4.2	0.1	2		75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DQX1	NM_133637.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	505/718	74747143	2,13004	2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74747143C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1514G>A	2.37:g.74747143C>T	ENSP00000384621:p.Arg505His					DQX1_uc002smc.3_Missense_Mutation_p.R66H	p.R505H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			8	1679	-			505					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1514G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531258	0.13127	0.0	2.33E-4	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02606	4.23;4.23	5.05	-4.21	0.03812	Helicase-associated domain (2);	1.081660	0.07063	N	0.834076	T	0.06462	0.0166	M	0.84156	2.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.87932	D	0	-16.1698	12.4638	0.55747	0.0:0.2756:0.0:0.7244	.	505	Q8TE96	DQX1_HUMAN	H	505	ENSP00000377523:R505H;ENSP00000384621:R505H	ENSP00000377523:R505H	R	-	2	0	DQX1	74600651	0.000000	0.05858	0.135000	0.22099	0.956000	0.61745	-0.348000	0.07740	-1.348000	0.02205	-1.202000	0.01658	CGT		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		T	74747143	C	T	74747143	3	4	152	1	0	0	0	0	1	0	0	0	4751	536	19	1	655	1	DQX1	2	74747143	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	1095264	74747143	168452230	19	10470											
MRPL30	51263	broad.mit.edu	37	chr2	99811636	99811636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgcaaaattgaaagtaGttaagcatttgataaggttt	16	14	9	2	0	0	3	0	3	0	0	0	3	0	3	0	1	2	5	0	1	7	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:99811636G>C	ENST00000338148.3	+	5	535	c.337G>C	c.(337-339)Gtt>Ctt	p.V113L	C2orf15_ENST00000512183.2_Missense_Mutation_p.V113L|MRPL30_ENST00000410042.1_Missense_Mutation_p.V113L|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	113						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTGAAAGTAGTTAAGCATTT	0.333																																						uc002szu.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(337-339)Gtt>Ctt		Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							180	174	176					2																	99811636		2203	4300	6503	SO:0001583	missense	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99811636G>C	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.337G>C	2.37:g.99811636G>C	ENSP00000338057:p.Val113Leu					MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.V113L|MRPL30_uc002szv.3_Missense_Mutation_p.V113L	p.V113L	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN			4	535	+			113					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.337G>C	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756927	0.69648	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409841	T;T;T	0.60797	0.16;0.16;0.16	4.43	4.43	0.53597	Ribosomal protein L30, ferredoxin-like fold domain (3);	0.206931	0.42964	D	0.000621	T	0.71221	0.3314	M	0.88377	2.95	0.37937	D	0.932202	D;P	0.59767	0.986;0.936	P;P	0.55260	0.772;0.64	T	0.78605	-0.2139	10	0.72032	D	0.01	-17.6991	8.5108	0.33215	0.103:0.0:0.897:0.0	.	113;113	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	L	113;126;113;113;113	ENSP00000420959:V113L;ENSP00000338057:V113L;ENSP00000386752:V113L	ENSP00000312464:V126L	V	+	1	0	C2orf15;MRPL30	99178068	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	1.834000	0.39171	2.455000	0.83008	0.655000	0.94253	GTT		0.333	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			C	99811636	G	C	99811636	3	2	152	1	0	0	0	0	1	0	0	0	9794	1029	36	5	351	5	MRPL30	2	99811636	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	25064493	99811636	143387737	20	10471											
IL1F6	27179	broad.mit.edu	37	chr2	113763644	113763644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgctcatagcagtcccgaGgaaggaccgtatgtctccag	10	7	12	12	3	2	0	1	0	1	0	4	4	3	2	3	2	1	3	3	2	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:113763644G>A	ENST00000259211.6	+	2	515	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	35					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GCAGTCCCGAGGAAGGACCGT	0.512																																						uc010yxr.2																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(103-105)aGg>aAg		Homo sapiens interleukin 36, alpha (IL36A), mRNA.							59	63	62					2																	113763644		2031	4195	6226	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113763644G>A	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.104G>A	2.37:g.113763644G>A	ENSP00000259211:p.Arg35Lys						p.R35K	NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN			1	104	+			35					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.104G>A	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663261	0.14710	.	.	ENSG00000136694	ENST00000259211	T	0.17213	2.29	4.69	2.88	0.33553	.	0.362885	0.23342	N	0.049229	T	0.10895	0.0266	L	0.45581	1.43	0.09310	N	1	B	0.25235	0.121	B	0.20384	0.029	T	0.33701	-0.9858	10	0.05833	T	0.94	16.6238	6.4216	0.21746	0.2158:0.0:0.7842:0.0	.	35	Q9UHA7	IL36A_HUMAN	K	35	ENSP00000259211:R35K	ENSP00000259211:R35K	R	+	2	0	IL36A	113480115	0.012000	0.17670	0.695000	0.30226	0.064000	0.16182	1.576000	0.36504	1.315000	0.45114	0.585000	0.79938	AGG		0.512	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		A	113763644	G	A	113763644	3	1	152	1	0	0	0	0	1	0	0	0	7654	1000	35	3	110	3	IL1F6	2	113763644	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13952008	113763644	129435729	21	10472											
THSD7B	80731	broad.mit.edu	37	chr2	138420998	138420998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatacagagataatgaaaTcaaatggtttcctggattac	15	12	8	6	0	1	2	1	1	0	1	2	4	2	3	1	2	2	2	1	2	6	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:138420998T>C	ENST00000409968.1	+	26	4682	c.4504T>C	c.(4504-4506)Tca>Cca	p.S1502P	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1505P|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1474P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1504						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATAATGAAATCAAATGGTTT	0.383																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4414-4416)Tca>Cca		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							99	93	95					2																	138420998		1873	4108	5981	SO:0001583	missense	80731							g.chr2:138420998T>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4504T>C	2.37:g.138420998T>C	ENSP00000387145:p.Ser1502Pro					THSD7B_uc010zbj.1_Non-coding_Transcript	p.S1472P	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	24	4414	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4414T>C		.	.	.	.	.	.	.	.	.	.	.	21.1	4.094384	0.76870	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.27402	2.19;2.06;1.67	6.02	6.02	0.97574	.	0.125987	0.56097	D	0.000038	T	0.54367	0.1854	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.55528	-0.8127	10	0.62326	D	0.03	.	16.5991	0.84804	0.0:0.0:0.0:1.0	.	1474	C9JKN6	.	P	1502;1505;1474	ENSP00000387145:S1502P;ENSP00000272643:S1505P;ENSP00000413841:S1474P	ENSP00000272643:S1505P	S	+	1	0	THSD7B	138137468	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.268000	0.43338	2.311000	0.77944	0.529000	0.55759	TCA		0.383	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		C	138420998	T	C	138420998	3	2	152	1	0	0	0	0	1	0	0	0	15877	1435	50	4	4514	4	THSD7B	2	138420998	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	24657354	138420998	104778375	22	10473											
XIRP2	129446	broad.mit.edu	37	chr2	168106391	168106391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccatcaatgattggtcGaaaagaagagagattaataa	18	8	11	4	1	1	4	1	1	0	3	2	7	1	5	1	2	0	0	1	2	6	3	rs368268974		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:168106391G>A	ENST00000409195.1	+	9	8578	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.R2830Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2608Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2655					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGATTGGTCGAAAAGAAGAG	0.398																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8488-8490)cGa>cAa		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.		G	,,,GLN/ARG,GLN/ARG	1,3669		0,1,1834	83	82	82		,,,8489,7823	-0.1	0	2		82	0,8182		0,0,4091	no	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,43,43	0,1,5925	AA,AG,GG		0.0,0.0272,0.0084	,,,benign,benign	,,,2830/3550,2608/3328	168106391	1,11851	1835	4091	5926	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106391G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8489G>A	2.37:g.168106391G>A	ENSP00000386840:p.Arg2830Gln					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.3_Intron	p.R2830Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8578	+			2655					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8489G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130810	0.06753	2.72E-4	0.0	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02395	4.31;4.31;4.31	6.02	-0.126	0.13515	.	0.898927	0.09612	N	0.778753	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.08055	0.001;0.003;0.003	T	0.50118	-0.8865	10	0.13853	T	0.58	4.7139	6.4035	0.21652	0.0:0.4535:0.1201:0.4265	.	2655;2655;2608	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2830;2830;2608;244	ENSP00000386840:R2830Q;ENSP00000295237:R2830Q;ENSP00000387255:R2608Q	ENSP00000295237:R2830Q	R	+	2	0	XIRP2	167814637	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.015000	0.13355	-0.306000	0.08818	-1.289000	0.01358	CGA		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168106391	G	A	168106391	3	1	152	1	0	0	0	0	1	0	0	0	17427	1058	37	2	8519	2	XIRP2	2	168106391	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	29685393	168106391	75092982	23	10474											
TTN	7273	broad.mit.edu	37	chr2	179431720	179431720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacaaatggatttttcAttagtactggtgcagattcc	12	13	9	7	0	1	1	1	0	0	1	2	3	2	2	1	2	3	3	1	2	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179431720A>G	ENST00000591111.1	-	276	74440	c.74216T>C	c.(74215-74217)aTg>aCg	p.M24739T	TTN_ENST00000589042.1_Missense_Mutation_p.M26380T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M17507T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440T|TTN_ENST00000460472.2_Missense_Mutation_p.M17315T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24739	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTTTTCATTAGTACTGG	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(71434-71436)aTg>aCg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							133	131	131					2																	179431720		1862	4094	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431720A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74216T>C	2.37:g.179431720A>G	ENSP00000465570:p.Met24739Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M17507T|TTN_uc021vta.1_Missense_Mutation_p.M17440T|TTN_uc021vtb.1_Missense_Mutation_p.M17315T	p.M23812T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	71660	-			24739			Fibronectin type-III 73.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71435T>C		.	.	.	.	.	.	.	.	.	.	A	11.17	1.559720	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.62	5.62	0.85841	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42404	0.1201	N	0.17838	0.53	0.80722	D	1	P;P;P;P	0.52842	0.915;0.915;0.915;0.956	B;B;B;P	0.47528	0.321;0.321;0.321;0.549	T	0.47497	-0.9113	9	0.87932	D	0	.	15.8218	0.78654	1.0:0.0:0.0:0.0	.	17315;17440;17507;24739	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23812;17315;17507;17440;17313	ENSP00000343764:M23812T;ENSP00000434586:M17315T;ENSP00000340554:M17507T;ENSP00000352154:M17440T	ENSP00000340554:M17507T	M	-	2	0	TTN	179139966	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.281000	0.95811	2.131000	0.65755	0.379000	0.24179	ATG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179431720	A	G	179431720	3	3	152	1	0	0	0	0	1	0	0	0	16732	217	8	4	28988	4	TTN	2	179431720	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	11325329	179431720	63767653	24	10475											
TTN	7273	broad.mit.edu	37	chr2	179456867	179456867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaggtgaccactgggCgctggcaacatctctcctct	8	9	12	12	1	2	3	0	2	2	1	4	4	3	3	2	3	1	2	2	3	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179456867C>T	ENST00000591111.1	-	252	55065	c.54841G>A	c.(54841-54843)Gcc>Acc	p.A18281T	TTN_ENST00000589042.1_Missense_Mutation_p.A19922T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17354T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11049T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10982T|TTN_ENST00000460472.2_Missense_Mutation_p.A10857T|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18281	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCACTGGGCGCTGGCAACA	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(52060-52062)Gcc>Acc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							74	72	73					2																	179456867		1935	4154	6089	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456867C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54841G>A	2.37:g.179456867C>T	ENSP00000465570:p.Ala18281Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11049T|TTN_uc021vta.1_Missense_Mutation_p.A10982T|TTN_uc021vtb.1_Missense_Mutation_p.A10857T	p.A17354T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52285	-			18281			Fibronectin type-III 26.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.52060G>A		.	.	.	.	.	.	.	.	.	.	C	9.848	1.192844	0.21954	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	6.03	4.22	0.49857	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32912	0.0845	N	0.11724	0.165	0.25706	N	0.985531	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.23691	-1.0181	9	0.87932	D	0	.	6.1867	0.20502	0.1277:0.5618:0.2436:0.0669	.	10857;10982;11049;18281	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17354;10857;11049;10982;10855	ENSP00000343764:A17354T;ENSP00000434586:A10857T;ENSP00000340554:A11049T;ENSP00000352154:A10982T	ENSP00000340554:A11049T	A	-	1	0	TTN	179165113	0.671000	0.27521	0.985000	0.45067	0.937000	0.57800	-0.044000	0.12023	0.861000	0.35504	0.557000	0.71058	GCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179456867	C	T	179456867	3	4	152	1	0	0	0	0	1	0	0	0	16732	768	27	1	48459	1	TTN	2	179456867	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	25147	179456867	63742506	25	10476											
SMARCAL1	50485	broad.mit.edu	37	chr2	217329391	217329391	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaaaatcccatctgtcatGtaagtggtcactaagtgtcg	11	12	9	9	1	3	0	2	0	1	0	5	0	4	0	1	1	0	2	1	1	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:217329391G>A	ENST00000357276.4	+	13	2471		c.e13+1		SMARCAL1_ENST00000358207.5_Splice_Site	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATCTGTCATGTAAGTGGTCA	0.363									Schimke Immuno-Osseous Dysplasia																													uc002vgc.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.e13+1		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.							161	154	156					2																	217329391		2203	4300	6503	SO:0001630	splice_region_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217329391G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2141+1G>A	2.37:g.217329391G>A						SMARCAL1_uc002vgd.4_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.3_Splice_Site_p.I692_splice	p.I714_splice	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	13	2471	+		Renal(323;0.0458)	714					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Splice_Site	SNP	ENST00000357276.4	37	c.2141_splice	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043552	0.75732	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6906	0.88268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAL1	217037636	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.452000	0.80683	2.765000	0.95021	0.650000	0.86243	.		0.363	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		Intron	A	217329391	G	A	217329391	5	1	152	1	0	0	0	0	0	0	1	0	14773	1391	48	3	2184	3	SMARCAL1	2	217329391	Splice_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	37872524	217329391	25869982	26	10477											
ALS2CL	259173	broad.mit.edu	37	chr3	46720751	46720751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcatacagggagtcGtcttcagagaggaggatgcc	9	8	14	10	1	3	1	2	0	1	1	4	5	3	4	2	3	3	0	2	3	1	2	rs371656248		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:46720751G>A	ENST00000318962.4	-	15	1658	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	ALS2CL_ENST00000383742.3_5'Flank|ALS2CL_ENST00000415953.1_Silent_p.D525D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	525					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACAGGGAGTCGTCTTCAGAGA	0.627																																						uc003cqa.2																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1573-1575)gaC>gaT		Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.							30	29	29					3																	46720751		2201	4299	6500	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46720751G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1575C>T	3.37:g.46720751G>A						ALS2CL_uc003cpx.2_5'Flank|ALS2CL_uc003cpy.2_5'Flank|ALS2CL_uc003cpz.2_Silent_p.D40D|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.D525D	p.D525D	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	14	1768	-			525					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.1575C>T	CCDS2743.1																																																																																				0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		A	46720751	G	A	46720751	2	1	152	1	0	0	0	0	0	0	0	1	551	1136	40	1		1	ALS2CL	3	46720751	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08		46720751	151301679	27	10478											
MORC1	27136	broad.mit.edu	37	chr3	108778663	108778663	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttacctttgtttctCtttaagattcttttgctttg	4	24	6	7	0	3	1	0	0	3	1	4	1	3	1	1	0	2	2	1	0	2	9			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:108778663C>A	ENST00000483760.1	-	12	1064	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.E341*					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1021-1023)Gag>Tag		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							159	137	144					3																	108778663		2203	4299	6502	SO:0001587	stop_gained	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778663C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1021G>T	3.37:g.108778663C>A	ENSP00000417282:p.Glu341*					MORC1_uc011bhn.2_Nonsense_Mutation_p.E341*	p.E341*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			11	1108	-			341						Nonsense_Mutation	SNP	ENST00000483760.1	37	c.1021G>T		.	.	.	.	.	.	.	.	.	.	C	18.79	3.699642	0.68501	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.02	2.21	0.28008	.	0.476813	0.17698	N	0.165016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-4.0109	6.9533	0.24558	0.0:0.5518:0.3543:0.0939	.	.	.	.	X	341	.	ENSP00000232603:E341X	E	-	1	0	MORC1	110261353	0.998000	0.40836	0.520000	0.27837	0.206000	0.24218	0.913000	0.28611	0.277000	0.22141	0.650000	0.86243	GAG		0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108778663	C	A	108778663	4	1	152	1	0	0	0	0	0	1	0	0	9701	922	32	5	2001	5	MORC1	3	108778663	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	62057912	108778663	89243767	28	10479											
GOLGB1	2804	broad.mit.edu	37	chr3	121410932	121410932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaaaacaatattctcctCttcctcctgggacagcaggt	10	13	6	12	0	3	0	0	0	3	0	6	1	5	1	3	2	2	1	3	2	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:121410932C>T	ENST00000340645.5	-	14	7389	c.7264G>A	c.(7264-7266)Gag>Aag	p.E2422K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2427K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2422	Poly-Glu.				Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTCTCCTCTTCCTCCTGG	0.398																																						uc010hrc.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7279-7281)Gag>Aag		Homo sapiens golgin B1 (GOLGB1), mRNA.							125	122	123					3																	121410932		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410932C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7264G>A	3.37:g.121410932C>T	ENSP00000341848:p.Glu2422Lys					GOLGB1_uc003eei.4_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2388K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2347K	p.E2427K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	7405	-			2422					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7279G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533994	0.27387	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15487	2.42;2.42	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000032	T	0.34077	0.0885	L	0.60455	1.87	0.44890	D	0.997905	D;D;B	0.65815	0.995;0.995;0.102	P;P;B	0.62089	0.898;0.898;0.077	T	0.00862	-1.1536	10	0.23302	T	0.38	.	15.5369	0.76011	0.0:1.0:0.0:0.0	.	2427;2427;2422	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2422;2427	ENSP00000341848:E2422K;ENSP00000377275:E2427K	ENSP00000341848:E2422K	E	-	1	0	GOLGB1	122893622	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.493000	0.60341	2.735000	0.93741	0.563000	0.77884	GAG		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121410932	C	T	121410932	3	4	152	1	0	0	0	0	1	0	0	0	6565	922	32	3	2551	3	GOLGB1	3	121410932	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	12632269	121410932	76611498	29	10480											
CASR	846	broad.mit.edu	37	chr3	122004023	122004023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcactgttacagaaaaCgtagtgaattcataaaatgg	16	9	10	6	1	1	2	1	1	0	1	1	2	1	2	0	2	3	4	0	2	7	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:122004023C>T	ENST00000490131.1	+	7	3594	c.3222C>T	c.(3220-3222)aaC>aaT	p.N1074N	CASR_ENST00000296154.5_Silent_p.N1074N|CASR_ENST00000498619.1_Silent_p.N1084N	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1074					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTACAGAAAACGTAGTGAATT	0.522																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3250-3252)aaC>aaT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						72	71	71					3																	122004023		2189	4263	6452	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122004023C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3222C>T	3.37:g.122004023C>T						CASR_uc003eev.4_Silent_p.N1074N	p.N1084N	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	3690	+			1074					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.3252C>T	CCDS3010.1																																																																																				0.522	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122004023	C	T	122004023	2	4	152	1	0	0	0	0	0	0	0	1	2682	535	19	1		1	CASR	3	122004023	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	593091	122004023	76018407	30	10481											
TLR1	7096	broad.mit.edu	37	chr4	38798595	38798595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcctggccctgcgccGggtctgggtccactggcaca	4	10	13	14	2	1	0	0	0	1	0	3	0	3	0	4	4	1	2	4	4	1	2	rs144775976	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:38798595G>A	ENST00000502213.2	-	3	2087	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.R620W			Q15399	TLR1_HUMAN	toll-like receptor 1	620					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GCCCTGCGCCGGGTCTGGGTC	0.517																																					GBM(5;216 373 40795 46382)	uc003gtl.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1858-1860)Cgg>Tgg		Homo sapiens toll-like receptor 1 (TLR1), mRNA.							83	90	88					4																	38798595		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798595G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1858C>T	4.37:g.38798595G>A	ENSP00000421259:p.Arg620Trp					TLR1_uc021xnn.1_Missense_Mutation_p.R620W	p.R620W	NM_003263	NP_003254	Q15399	TLR1_HUMAN			3	2132	-			620					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.1858C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989172	0.18966	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.02216	4.39;4.39	5.5	4.58	0.56647	.	0.130592	0.35096	N	0.003455	T	0.02929	0.0087	L	0.45422	1.42	0.39231	D	0.963682	B	0.18461	0.028	B	0.18871	0.023	T	0.49542	-0.8929	10	0.26408	T	0.33	.	13.174	0.59615	0.0:0.0:0.4571:0.5429	.	620	Q15399	TLR1_HUMAN	W	620	ENSP00000354932:R620W;ENSP00000421259:R620W	ENSP00000354932:R620W	R	-	1	2	TLR1	38474990	1.000000	0.71417	0.993000	0.49108	0.508000	0.34012	4.785000	0.62418	1.249000	0.43950	0.563000	0.77884	CGG		0.517	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			A	38798595	G	A	38798595	3	1	152	1	0	0	0	0	1	0	0	0	15946	1115	39	2	506	2	TLR1	4	38798595	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		38798595	152355681	31	10482											
PDGFRA	5156	broad.mit.edu	37	chr4	55138611	55138611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaccatggctcaactgggGgacagacggtgaggtgcaca	11	6	14	10	1	2	2	2	1	0	1	2	3	2	3	1	5	2	2	1	5	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138611G>A	ENST00000257290.5	+	9	1619	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	430	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTCAACTGGGGGACAGACGGT	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1288-1290)Gga>Aga		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						157	142	147					4																	55138611		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138611G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1288G>A	4.37:g.55138611G>A	ENSP00000257290:p.Gly430Arg	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript	p.G430R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1619	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		430			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1288G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	4.318	0.058264	0.08339	.	.	ENSG00000134853	ENST00000257290	T	0.75938	-0.98	6.17	6.17	0.99709	.	0.000000	0.31760	U	0.007105	T	0.67401	0.2889	L	0.38175	1.15	0.80722	D	1	B;B	0.19583	0.011;0.037	B;B	0.19391	0.012;0.025	T	0.62440	-0.6854	10	0.54805	T	0.06	.	15.0188	0.71613	0.0694:0.0:0.9306:0.0	.	430;430	P16234-3;P16234	.;PGFRA_HUMAN	R	430	ENSP00000257290:G430R	ENSP00000257290:G430R	G	+	1	0	PDGFRA	54833368	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	6.327000	0.72910	2.941000	0.99782	0.655000	0.94253	GGA		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55138611	G	A	55138611	3	1	152	1	0	0	0	0	1	0	0	0	11661	1233	43	3	1318	3	PDGFRA	4	55138611	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	16340016	55138611	136015665	32	10483											
PDGFRA	5156	broad.mit.edu	37	chr4	55138664	55138664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgcttcctgatattgagtgGatgatatgcaaagatattaa	13	13	9	6	1	0	4	0	3	0	1	1	5	1	5	2	1	1	2	2	1	5	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138664G>C	ENST00000257290.5	+	9	1672	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	447	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATATTGAGTGGATGATATGCA	0.438			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1339-1341)tgG>tgC		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						146	136	139					4																	55138664		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138664G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1341G>C	4.37:g.55138664G>C	ENSP00000257290:p.Trp447Cys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_Non-coding_Transcript	p.W447C	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1672	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		447			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1341G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430751	0.43122	.	.	ENSG00000134853	ENST00000257290	D	0.94966	-3.57	6.17	5.33	0.75918	Immunoglobulin-like fold (1);	0.000000	0.30538	U	0.009404	D	0.97065	0.9041	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.97652	1.0155	10	0.87932	D	0	.	15.6271	0.76870	0.0653:0.0:0.9346:0.0	.	447;447	P16234-3;P16234	.;PGFRA_HUMAN	C	447	ENSP00000257290:W447C	ENSP00000257290:W447C	W	+	3	0	PDGFRA	54833421	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	8.102000	0.89548	1.632000	0.50472	-0.140000	0.14226	TGG		0.438	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		C	55138664	G	C	55138664	3	2	152	1	0	0	0	0	1	0	0	0	11661	1183	41	5	1371	5	PDGFRA	4	55138664	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	53	55138664	136015612	33	10484											
FRAS1	80144	broad.mit.edu	37	chr4	79418093	79418093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaataacatggccaccatCaccatatccaatgatgaaga	18	7	6	10	0	1	4	1	2	0	2	2	4	2	4	4	1	1	0	4	1	6	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:79418093C>A	ENST00000264895.6	+	60	9533	c.9093C>A	c.(9091-9093)atC>atA	p.I3031I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3027	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGCCACCATCACCATATCCA	0.408																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9091-9093)atC>atA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							105	102	103					4																	79418093		1922	4133	6055	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79418093C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9093C>A	4.37:g.79418093C>A						FRAS1_uc003hlc.1_Silent_p.I33I	p.I3031I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			59	9533	+			3026			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9093C>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018721	0.19355	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51663	-0.8677	4	.	.	.	.	2.9286	0.05792	0.155:0.5497:0.1494:0.1459	.	.	.	.	N	1260	.	.	H	+	1	0	FRAS1	79637117	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.763000	0.26517	2.524000	0.85096	0.650000	0.86243	CAC		0.408	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79418093	C	A	79418093	2	1	152	1	0	0	0	0	0	0	0	1	6042	816	29	5		5	FRAS1	4	79418093	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	24279429	79418093	111736183	34	10485											
LARP7	51574	broad.mit.edu	37	chr4	113568448	113568448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggacacaagcaacaccaGcatcagtaaaatgaaaagat	20	5	7	9	0	1	2	1	1	0	1	1	3	1	3	1	1	3	3	1	1	6	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:113568448G>A	ENST00000344442.5	+	7	1018	c.740G>A	c.(739-741)aGc>aAc	p.S247N	LARP7_ENST00000324052.6_Missense_Mutation_p.S247N|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.S254N|MIR302A_ENST00000385192.1_RNA|MIR302C_ENST00000362232.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	247	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		agcaacaCCAGCATCAGTAAA	0.403																																						uc003iaz.3																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(760-762)aGc>aAc		Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.							99	102	101					4																	113568448		1914	4121	6035	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113568448G>A	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.740G>A	4.37:g.113568448G>A	ENSP00000344950:p.Ser247Asn					LARP7_uc003iay.3_Missense_Mutation_p.S247N|LARP7_uc003iba.3_Missense_Mutation_p.S168N|LARP7_uc003ibb.3_Missense_Mutation_p.S247N	p.S254N	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	8	1226	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	247			Lys-rich.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.761G>A	CCDS3701.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.055|8.055	0.766943|0.766943	0.15983|0.15983	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000511529|ENST00000344442;ENST00000509061;ENST00000505034;ENST00000324052	.|T;T;T;T	.|0.19806	.|2.16;2.16;2.12;2.16	5.73|5.73	-2.84|-2.84	0.05751|0.05751	.|.	.|1.112010	.|0.06556	.|N	.|0.745934	T|T	0.15652|0.15652	0.0377|0.0377	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.17832	.|T	.|0.49	0.126|0.126	7.9114|7.9114	0.29793|0.29793	0.4235:0.3863:0.1902:0.0|0.4235:0.3863:0.1902:0.0	.|.	.|247;247	.|D6RFF0;Q4G0J3	.|.;LARP7_HUMAN	T|N	28|247;254;247;247	.|ENSP00000344950:S247N;ENSP00000422626:S254N;ENSP00000421541:S247N;ENSP00000314311:S247N	.|ENSP00000314311:S247N	A|S	+|+	1|2	0|0	LARP7|LARP7	113787897|113787897	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.333000|-0.333000	0.07894|0.07894	-0.365000|-0.365000	0.08076|0.08076	-0.373000|-0.373000	0.07131|0.07131	GCA|AGC		0.403	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113568448	G	A	113568448	3	1	152	1	0	0	0	0	1	0	0	0	8633	971	34	3	762	3	LARP7	4	113568448	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	34150355	113568448	77585828	35	10486											
ARFIP1	27236	broad.mit.edu	37	chr4	153809448	153809448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcaaattgaaatttctaGaagaaaataaggtaaattct	18	13	6	4	0	3	3	1	1	2	2	3	3	3	3	0	1	0	1	0	1	9	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:153809448G>A	ENST00000451320.2	+	8	1119	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ARFIP1_ENST00000356064.3_Missense_Mutation_p.E287K|ARFIP1_ENST00000405727.2_Missense_Mutation_p.E287K|ARFIP1_ENST00000429148.2_Missense_Mutation_p.E139K|ARFIP1_ENST00000353617.2_Missense_Mutation_p.E319K			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	319	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAAATTTCTAGAAGAAAATAA	0.353																																						uc003imz.3																		ARFIP1/FHDC1(2)	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(955-957)Gaa>Aaa		Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.							46	47	46					4																	153809448		2203	4299	6502	SO:0001583	missense	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153809448G>A	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"arfaptin 1"	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.955G>A	4.37:g.153809448G>A	ENSP00000395083:p.Glu319Lys					ARFIP1_uc003inb.3_Missense_Mutation_p.E287K|ARFIP1_uc003ina.3_Missense_Mutation_p.E287K|ARFIP1_uc003inc.3_Missense_Mutation_p.E319K|ARFIP1_uc011cij.2_Missense_Mutation_p.E139K	p.E319K	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			7	1231	+	all_hematologic(180;0.093)		319			AH.		Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	c.955G>A	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396736	0.96009	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.85	5.85	0.93711	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.978;0.99;1.0	P;P;D	0.85130	0.852;0.889;0.997	D	0.87803	0.2626	10	0.48119	T	0.1	-23.2014	20.1731	0.98165	0.0:0.0:1.0:0.0	.	139;287;319	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	K	319;139;319;287;287	ENSP00000395083:E319K;ENSP00000396653:E139K;ENSP00000296557:E319K;ENSP00000384189:E287K;ENSP00000348360:E287K	ENSP00000296557:E319K	E	+	1	0	ARFIP1	154028898	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.476000	0.97823	2.768000	0.95171	0.655000	0.94253	GAA		0.353	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		A	153809448	G	A	153809448	3	1	152	1	0	0	0	0	1	0	0	0	854	943	33	3	981	3	ARFIP1	4	153809448	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	40241000	153809448	37344828	36	10487											
ACCN5	51802	broad.mit.edu	37	chr4	156764950	156764950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatgatcccagcatcaacGaaaccaagggctgggttatc	14	7	10	10	1	1	2	1	1	0	1	3	3	2	2	2	2	3	3	2	2	5	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:156764950G>A	ENST00000537611.2	-	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	248					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CAGCATCAACGAAACCAAGGG	0.413																																						uc003ipe.1																			0											c.(742-744)ttC>ttT		Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.							122	100	108					4																	156764950		2203	4300	6503	SO:0001819	synonymous_variant	51802					integral to membrane|plasma membrane		g.chr4:156764950G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.744C>T	4.37:g.156764950G>A							p.F248F	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN			4	791	-			248						Silent	SNP	ENST00000537611.2	37	c.744C>T	CCDS3793.1																																																																																				0.413	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			A	156764950	G	A	156764950	2	1	152	1	0	0	0	0	0	0	0	1	132	1049	37	2		2	ACCN5	4	156764950	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	2955502	156764950	34389326	37	10488											
FSTL5	56884	broad.mit.edu	37	chr4	162459448	162459448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtgaacctcactgccAtttgctgaaaaaagaaggga	14	10	9	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	6	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:162459448A>G	ENST00000306100.5	-	10	1618	c.1182T>C	c.(1180-1182)aaT>aaC	p.N394N	FSTL5_ENST00000536695.1_Silent_p.N393N|FSTL5_ENST00000379164.4_Silent_p.N393N|FSTL5_ENST00000427802.2_Silent_p.N393N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	394	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCACTGCCATTTGCTGAAA	0.408																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1180-1182)aaT>aaC		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							184	160	168					4																	162459448		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162459448A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1182T>C	4.37:g.162459448A>G						FSTL5_uc003iqi.3_Silent_p.N393N|FSTL5_uc010iqv.3_Silent_p.N393N	p.N394N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1618	-	all_hematologic(180;0.24)		394			Ig-like 2.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1182T>C	CCDS3802.1																																																																																				0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		G	162459448	A	G	162459448	2	3	152	1	0	0	0	0	0	0	0	1	6080	214	8	4		4	FSTL5	4	162459448	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	5694498	162459448	28694828	38	10489											
IRX2	153572	broad.mit.edu	37	chr5	2749779	2749779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgagagtggccgtggcGtcccgcgtggcgttcttgcg	2	10	17	12	6	1	1	0	1	1	1	2	2	2	1	3	3	1	1	3	3	0	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:2749779G>A	ENST00000382611.6	-	2	620	c.372C>T	c.(370-372)gaC>gaT	p.D124D	C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.D124D|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	124					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D124D(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGGCCGTGGCGTCCCGCGTGG	0.652																																						uc003jda.3																			1	Substitution - coding silent(1)	p.D124D(2)|p.R123Q(1)	endometrium(1)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(370-372)gaC>gaT		Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.							134	104	114					5																	2749779		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749779G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.372C>T	5.37:g.2749779G>A						C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D124D	p.D124D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	1	614	-			124					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.372C>T	CCDS3868.1																																																																																				0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			A	2749779	G	A	2749779	2	1	152	1	0	0	0	0	0	0	0	1	7844	1136	40	1		1	IRX2	5	2749779	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08		2749779	178165481	39	10490											
BDP1	55814	broad.mit.edu	37	chr5	70813215	70813215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagaacacagaatgtatGaaaatcaaagtcaggtggtt	16	10	9	6	0	2	3	2	1	0	2	3	3	3	3	1	2	1	2	1	2	6	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:70813215G>A	ENST00000358731.4	+	22	5190	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1643					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGAATGTATGAAAATCAAAG	0.303																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4927-4929)Gaa>Aaa		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							67	67	67					5																	70813215		1811	4077	5888	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70813215G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4927G>A	5.37:g.70813215G>A	ENSP00000351575:p.Glu1643Lys					BDP1_uc003kbo.3_Missense_Mutation_p.E1643K	p.E1643K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	21	5190	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1643					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.4927G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613492	0.46631	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11169	2.8	4.24	4.24	0.50183	.	0.243176	0.29145	N	0.013011	T	0.26340	0.0643	M	0.64997	1.995	0.80722	D	1	D;P	0.71674	0.998;0.938	D;P	0.64321	0.924;0.831	T	0.00742	-1.1585	10	0.72032	D	0.01	.	12.3242	0.55001	0.0:0.0:1.0:0.0	.	1643;1643	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	1643;1223	ENSP00000351575:E1643K	ENSP00000351575:E1643K	E	+	1	0	BDP1	70848971	1.000000	0.71417	0.350000	0.25708	0.060000	0.15804	4.082000	0.57635	2.349000	0.79799	0.460000	0.39030	GAA		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70813215	G	A	70813215	3	1	152	1	0	0	0	0	1	0	0	0	1395	1291	45	3	5013	3	BDP1	5	70813215	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	68063436	70813215	110102045	40	10491											
JMY	133746	broad.mit.edu	37	chr5	78612055	78612055	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggagcatccatgaagctctTagaagaattaaagaagcatc	16	8	9	8	1	1	4	0	1	1	3	3	5	2	5	1	1	3	3	1	1	7	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78612055T>C	ENST00000396137.4	+	10	3354	c.2892T>C	c.(2890-2892)ctT>ctC	p.L964L	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	964					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATGAAGCTCTTAGAAGAATTA	0.438																																						uc003kfx.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2890-2892)ctT>ctC		Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.							51	48	49					5																	78612055		1881	4103	5984	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78612055T>C	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2892T>C	5.37:g.78612055T>C							p.L964L	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	3441	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	964					A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.2892T>C	CCDS4047.3																																																																																				0.438	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		C	78612055	T	C	78612055	2	2	152	1	0	0	0	0	0	0	0	1	7957	1741	61	4		4	JMY	5	78612055	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	7798840	78612055	102303205	41	10492											
HOMER1	9456	broad.mit.edu	37	chr5	78697771	78697771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataggcagcaagttgctgtTtccattgtttcacattggca	9	14	10	8	0	1	0	1	0	0	0	2	1	2	0	1	2	2	7	1	2	2	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78697771T>C	ENST00000334082.6	-	6	2077	c.635A>G	c.(634-636)aAa>aGa	p.K212R	HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.K38R|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	212					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AAGTTGCTGTTTCCATTGTTT	0.478																																						uc003kfy.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(634-636)aAa>aGa		Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.							169	160	162					5																	78697771		1946	4145	6091	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78697771T>C	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.635A>G	5.37:g.78697771T>C	ENSP00000334382:p.Lys212Arg					HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Missense_Mutation_p.K38R	p.K212R	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	5	1738	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	212					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.635A>G	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594148	0.66219	.	.	ENSG00000152413	ENST00000334082;ENST00000535690	T;T	0.79141	-1.24;-1.24	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	L	0.48642	1.525	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.76071	0.987;0.831	T	0.81994	-0.0677	10	0.30854	T	0.27	-16.6449	15.9986	0.80270	0.0:0.0:0.0:1.0	.	38;212	Q86YM6;Q86YM7	.;HOME1_HUMAN	R	212;38	ENSP00000334382:K212R;ENSP00000441587:K38R	ENSP00000334382:K212R	K	-	2	0	HOMER1	78733527	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.655000	0.83696	2.237000	0.73441	0.533000	0.62120	AAA		0.478	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		C	78697771	T	C	78697771	3	2	152	1	0	0	0	0	1	0	0	0	7278	1841	64	4	445	4	HOMER1	5	78697771	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	85716	78697771	102217489	42	10493											
ELL2	22936	broad.mit.edu	37	chr5	95234136	95234136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataggctttggacactttaGtagaacggaaccagggggta	12	9	13	7	1	0	1	0	0	0	1	0	3	0	3	1	5	2	3	1	5	6	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:95234136G>T	ENST00000237853.4	-	8	1682	c.1333C>A	c.(1333-1335)Cta>Ata	p.L445I	ELL2_ENST00000431061.2_Missense_Mutation_p.L195I	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	445					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGACACTTTAGTAGAACGGAA	0.373																																						uc003klr.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(1333-1335)Cta>Ata		Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.							128	133	132					5																	95234136		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95234136G>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1333C>A	5.37:g.95234136G>T	ENSP00000237853:p.Leu445Ile						p.L445I	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	7	1683	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	445					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1333C>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	4.725	0.134905	0.09032	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T	0.24538	1.85	5.5	4.51	0.55191	.	0.598718	0.17747	N	0.163364	T	0.17619	0.0423	L	0.47716	1.5	0.09310	N	1	B	0.28128	0.201	B	0.21917	0.037	T	0.10917	-1.0609	10	0.33141	T	0.24	1.2565	2.6088	0.04885	0.1869:0.0:0.5195:0.2935	.	445	O00472	ELL2_HUMAN	I	445;195	ENSP00000237853:L445I	ENSP00000237853:L445I	L	-	1	2	ELL2	95259892	0.593000	0.26840	0.998000	0.56505	0.430000	0.31655	3.112000	0.50368	2.565000	0.86533	0.591000	0.81541	CTA		0.373	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		T	95234136	G	T	95234136	3	4	152	1	0	0	0	0	1	0	0	0	5063	1020	36	5	609	5	ELL2	5	95234136	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	16536365	95234136	85681124	43	10494											
APC	324	broad.mit.edu	37	chr5	112174282	112174282	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaagttttgcagttaTggtcaatacccagccgacct	12	11	9	9	1	1	0	1	0	0	0	1	2	1	0	3	1	3	4	3	1	5	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:112174282T>C	ENST00000457016.1	+	16	3371	c.2991T>C	c.(2989-2991)taT>taC	p.Y997Y	APC_ENST00000508376.2_Silent_p.Y997Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.Y997Y			P25054	APC_HUMAN	adenomatous polyposis coli	997	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTGCAGTTATGGTCAATACC	0.343		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc003kpz.4		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.Y997fs*8(1)|p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM010750	APC	M		c.(2989-2991)taT>taC		Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.							87	82	84					5																	112174282		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174282T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2991T>C	5.37:g.112174282T>C		TSP Lung(16;0.13)				APC_uc011cvt.2_Silent_p.Y979Y|APC_uc003kpy.4_Silent_p.Y997Y|APC_uc010jbz.3_Silent_p.Y714Y|APC_uc010jca.3_Silent_p.Y297Y	p.Y997Y	NM_001127510	NP_001120982	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3184	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	997			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.2991T>C	CCDS4107.1																																																																																				0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		C	112174282	T	C	112174282	2	2	152	1	0	0	0	0	0	0	0	1	763	1471	51	4		4	APC	5	112174282	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	16940146	112174282	68740978	44	10495											
MAML1	9794	broad.mit.edu	37	chr5	179201677	179201677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcctcacagatgggCggtcgggcggggctgcactg	5	6	17	13	3	1	1	1	0	0	1	2	1	1	1	2	5	3	2	2	5	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:179201677C>T	ENST00000292599.3	+	5	3113	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGATGGGCGGTCGGGCGG	0.706																																						uc003mkm.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2848-2850)ggC>ggT		Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.							15	17	17					5																	179201677		2198	4292	6490	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201677C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2850C>T	5.37:g.179201677C>T						MAML1_uc003mkn.1_Intron	p.G950G	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	3113	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	950						Silent	SNP	ENST00000292599.3	37	c.2850C>T	CCDS34315.1																																																																																				0.706	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		T	179201677	C	T	179201677	2	4	152	1	0	0	0	0	0	0	0	1	9205	755	27	1		1	MAML1	5	179201677	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	67027395	179201677	1713583	45	10496											
MYLK4	340156	broad.mit.edu	37	chr6	2685573	2685573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttagactcgaaggcatCgtacagctggatgaggttcg	9	11	13	8	3	1	2	0	1	1	1	4	4	1	3	0	3	2	5	0	3	3	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:2685573C>A	ENST00000274643.7	-	6	844	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	MYLK4_ENST00000268446.5_Missense_Mutation_p.D168Y	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGAAGGCATCGTACAGCTGG	0.557																																						uc003mty.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(502-504)Gat>Tat		Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.							270	199	223					6																	2685573		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685573C>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.502G>T	6.37:g.2685573C>A	ENSP00000274643:p.Asp168Tyr						p.D168Y	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			5	799	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	168			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.502G>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597139	0.87055	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.47177	0.85;0.85	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000237	T	0.62208	0.2409	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.64546	-0.6382	10	0.87932	D	0	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	168	Q86YV6	MYLK4_HUMAN	Y	168	ENSP00000268446:D168Y;ENSP00000274643:D168Y	ENSP00000268446:D168Y	D	-	1	0	MYLK4	2630572	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	7.805000	0.86005	2.649000	0.89929	0.603000	0.83216	GAT		0.557	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		A	2685573	C	A	2685573	3	1	152	1	0	0	0	0	1	0	0	0	10059	884	31	5	692	5	MYLK4	6	2685573	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		2685573	168429494	46	10497											
HIVEP1	3096	broad.mit.edu	37	chr6	12164550	12164550	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaggcacattctgaagtTtttacaaagccctcaggcca	12	10	8	11	0	2	2	1	2	1	0	2	2	2	2	2	2	2	2	2	2	4	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:12164550T>C	ENST00000379388.2	+	9	8345	c.8013T>C	c.(8011-8013)gtT>gtC	p.V2671V	HIVEP1_ENST00000541134.1_Silent_p.V536V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2671					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTCTGAAGTTTTTACAAAGC	0.577																																						uc003nac.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(8011-8013)gtT>gtC		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							43	47	46					6																	12164550		2126	4253	6379	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164550T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8013T>C	6.37:g.12164550T>C						HIVEP1_uc011diq.2_Non-coding_Transcript	p.V2671V	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	8192	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2671					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.8013T>C	CCDS43426.1																																																																																				0.577	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12164550	T	C	12164550	2	2	152	1	0	0	0	0	0	0	0	1	7186	1828	64	4		4	HIVEP1	6	12164550	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	9478977	12164550	158950517	47	10498											
RNF5	6048	broad.mit.edu	37	chr6	32147882	32147882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccgtcttcaatgcccatGagcctttccgccggggtaca	7	9	9	16	3	2	1	1	1	1	0	3	1	3	1	6	2	3	1	6	2	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:32147882G>A	ENST00000375094.3	+	5	582	c.424G>A	c.(424-426)Gag>Aag	p.E142K	AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.E142K	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	142					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(7)|urinary_tract(2)	10						CAATGCCCATGAGCCTTTCCG	0.557																																						uc003oaj.4																			0				endometrium(1)|lung(7)|urinary_tract(2)	10						c.(424-426)Gag>Aag		Homo sapiens ring finger protein 5 (RNF5), mRNA.							141	146	144					6																	32147882		1511	2709	4220	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147882G>A	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"RING-type (C3HC4) zinc fingers"	10068	protein-coding gene	gene with protein product		602677	"ring finger protein 5"			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.424G>A	6.37:g.32147882G>A	ENSP00000364235:p.Glu142Lys					AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	p.E142K	NM_006913	NP_008844	Q99942	RNF5_HUMAN			4	551	+			142					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.424G>A	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893301	0.72524	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.94000	-3.33;-3.33	5.36	5.36	0.76844	.	0.253964	0.38272	N	0.001748	D	0.92938	0.7753	L	0.46157	1.445	0.38768	D	0.95447	P	0.47910	0.902	P	0.55455	0.776	D	0.92332	0.5874	10	0.40728	T	0.16	-6.1743	16.9524	0.86249	0.0:0.0:1.0:0.0	.	142	Q99942	RNF5_HUMAN	K	142	ENSP00000364235:E142K;ENSP00000407656:E142K	ENSP00000364235:E142K	E	+	1	0	RNF5	32255860	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	5.427000	0.66483	2.666000	0.90696	0.655000	0.94253	GAG		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913		A	32147882	G	A	32147882	3	1	152	1	0	0	0	0	1	0	0	0	13497	1291	45	3	442	3	RNF5	6	32147882	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	19983332	32147882	138967185	48	10499											
COL11A2	1302	broad.mit.edu	37	chr6	33133402	33133402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggtccctgttggccgCctcatctgctcgatctcctc	2	13	9	17	2	3	0	1	0	2	0	8	1	5	0	5	2	1	2	5	2	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:33133402C>A	ENST00000374708.4	-	61	4674	c.4416G>T	c.(4414-4416)agG>agT	p.R1472S	COL11A2_ENST00000395197.1_Missense_Mutation_p.R1498S|COL11A2_ENST00000341947.2_Missense_Mutation_p.R1558S|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1511S|COL11A2_ENST00000357486.1_Missense_Mutation_p.R1537S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1451S|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1532S|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1477S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1558	Collagen-like 8.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTGGCCGCCTCATCTGCT	0.662																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0		p.M1557I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4672-4674)agG>agT		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							63	63	63					6																	33133402		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33133402C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4416G>T	6.37:g.33133402C>A	ENSP00000363840:p.Arg1472Ser					COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	p.R1558S	NM_080680	NP_542411	P13942	COBA2_HUMAN			62	4902	-			1558			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4674G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416286	0.42918	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.4	3.54	0.40534	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.88105	2.93	0.53005	D	0.999966	P;D;D;D	0.56287	0.954;0.969;0.969;0.975	P;P;P;P	0.60012	0.867;0.723;0.723;0.819	D	0.84016	0.0351	10	0.87932	D	0	.	10.0846	0.42410	0.0:0.9016:0.0:0.0984	.	154;1451;1472;1558	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	S	1472;1558;1537;1532;1511;1498;1477;1451;128	ENSP00000363840:R1472S;ENSP00000339915:R1558S;ENSP00000350079:R1537S;ENSP00000363846:R1532S;ENSP00000363845:R1511S;ENSP00000378623:R1498S;ENSP00000363844:R1477S;ENSP00000355123:R1451S	ENSP00000339915:R1558S	R	-	3	2	COL11A2	33241380	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.899000	0.28417	1.082000	0.41137	-0.271000	0.10264	AGG		0.662	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33133402	C	A	33133402	3	1	152	1	0	0	0	0	1	0	0	0	3668	738	26	5	552	5	COL11A2	6	33133402	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	985520	33133402	137981665	49	10500											
TFEB	7942	broad.mit.edu	37	chr6	41654875	41654875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcccaactccttgatgcGgtcattgatgttgaaccttc	8	14	7	12	1	1	3	1	3	0	0	4	3	3	3	3	1	3	1	3	1	2	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:41654875G>A	ENST00000230323.4	-	8	1061	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	TFEB_ENST00000373033.1_Missense_Mutation_p.R254C|TFEB_ENST00000403298.4_Missense_Mutation_p.R254C|TFEB_ENST00000420312.1_Missense_Mutation_p.R169C|TFEB_ENST00000394283.1_Missense_Mutation_p.R254C|TFEB_ENST00000358871.2_Missense_Mutation_p.R268C	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	254	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCCTTGATGCGGTCATTGATG	0.537			T	ALPHA	renal (childhood epithelioid)																																	uc021yzl.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"E,M"	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(961-963)Cgc>Tgc		Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.							143	116	125					6																	41654875		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41654875G>A	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.760C>T	6.37:g.41654875G>A	ENSP00000230323:p.Arg254Cys					TFEB_uc003oqs.1_Missense_Mutation_p.R254C|TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R254C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	p.R321C	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		5	962	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		254					Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.961C>T	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504751	0.85176	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396	D;D;D;D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	4.85	3.97	0.46021	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.99421	1.0933	10	0.87932	D	0	-18.6942	14.2398	0.65950	0.0:0.0:0.8499:0.1501	.	268;254;169	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	C	112;340;254;268;254;169;254;254;254	ENSP00000383998:R112C;ENSP00000343948:R340C;ENSP00000230323:R254C;ENSP00000351742:R268C;ENSP00000384203:R254C;ENSP00000412551:R169C;ENSP00000362124:R254C;ENSP00000377824:R254C;ENSP00000410391:R254C	ENSP00000230323:R254C	R	-	1	0	TFEB	41762853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.587000	0.67510	1.008000	0.39264	0.563000	0.77884	CGC		0.537	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			A	41654875	G	A	41654875	3	1	152	1	0	0	0	0	1	0	0	0	15798	1116	39	2	682	2	TFEB	6	41654875	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	8521473	41654875	129460192	50	10501											
C7orf31	136895	broad.mit.edu	37	chr7	25182279	25182279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaaatcatgagtgtacGaagtgagccagtgggacctc	12	9	12	8	1	1	2	1	2	0	0	2	4	1	3	2	1	2	2	2	1	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:25182279G>A	ENST00000409280.1	-	8	1147	c.839C>T	c.(838-840)tCg>tTg	p.S280L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S280L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	280										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGAGTGTACGAAGTGAGCCA	0.368																																						uc003sxn.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(838-840)tCg>tTg		Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.							70	73	72					7																	25182279		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25182279G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.839C>T	7.37:g.25182279G>A	ENSP00000386604:p.Ser280Leu						p.S280L	NM_138811	NP_620166	Q8N865	CG031_HUMAN			7	1400	-			280					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.839C>T	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024078	0.75390	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.09445	2.98;2.98	5.67	4.74	0.60224	.	0.288882	0.27906	N	0.017379	T	0.30103	0.0754	M	0.65975	2.015	0.30793	N	0.740735	D	0.89917	1.0	P	0.62560	0.904	T	0.05616	-1.0874	10	0.72032	D	0.01	17.6252	17.912	0.88937	0.0:0.1315:0.8685:0.0	.	280	Q8N865	CG031_HUMAN	L	280	ENSP00000386604:S280L;ENSP00000283905:S280L	ENSP00000283905:S280L	S	-	2	0	C7orf31	25148804	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	4.897000	0.63231	2.675000	0.91044	0.491000	0.48974	TCG		0.368	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		A	25182279	G	A	25182279	3	1	152	1	0	0	0	0	1	0	0	0	2387	1059	37	2	945	2	C7orf31	7	25182279	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		25182279	133956384	51	10502											
VPS41	27072	broad.mit.edu	37	chr7	38816326	38816326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaagtacaacaagctgatCacagagaggtgcaagtccac	16	5	10	10	1	1	2	1	1	0	1	2	4	2	2	1	1	4	3	1	1	5	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:38816326C>T	ENST00000310301.4	-	11	889	c.835G>A	c.(835-837)Gat>Aat	p.D279N	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.D254N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	279					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACAAGCTGATCACAGAGAGGT	0.413																																						uc003tgy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(835-837)Gat>Aat		Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.							94	83	87					7																	38816326		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38816326C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.835G>A	7.37:g.38816326C>T	ENSP00000309457:p.Asp279Asn					VPS41_uc003tgz.3_Missense_Mutation_p.D254N|VPS41_uc010kxn.3_Missense_Mutation_p.D190N	p.D279N	NM_014396	NP_055211	P49754	VPS41_HUMAN			10	861	-			279					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.835G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292452	0.59976	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.39592	1.07;1.07	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.39020	1.185	0.80722	D	1	B;B;B	0.33549	0.417;0.417;0.417	B;B;B	0.28553	0.091;0.091;0.091	T	0.05852	-1.0860	10	0.30078	T	0.28	-30.7415	20.6208	0.99490	0.0:1.0:0.0:0.0	.	279;254;279	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	279;254	ENSP00000309457:D279N;ENSP00000379297:D254N	ENSP00000309457:D279N	D	-	1	0	VPS41	38782851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	GAT		0.413	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			T	38816326	C	T	38816326	3	4	152	1	0	0	0	0	1	0	0	0	17207	826	29	3	1805	3	VPS41	7	38816326	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	13634047	38816326	120322337	52	10503											
URGCP	55665	broad.mit.edu	37	chr7	43917540	43917540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctggcagaactccttctCcacttgggctgcctttctcc	5	12	9	15	0	2	1	0	0	2	1	5	2	3	1	4	2	3	3	4	2	1	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:43917540C>T	ENST00000453200.1	-	6	2015	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.E499K|URGCP_ENST00000447717.3_Missense_Mutation_p.E465K|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.E465K|URGCP_ENST00000223341.7_Missense_Mutation_p.E465K|URGCP_ENST00000443736.1_Missense_Mutation_p.E465K			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	508					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACTCCTTCTCCACTTGGGCT	0.607																																						uc003tiw.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1522-1524)Gag>Aag		Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							74	77	76					7																	43917540		1983	4156	6139	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917540C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1522G>A	7.37:g.43917540C>T	ENSP00000396918:p.Glu508Lys					URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E465K|URGCP_uc003tiv.3_Missense_Mutation_p.E433K|URGCP_uc003tix.3_Missense_Mutation_p.E499K|URGCP_uc003tiy.3_Missense_Mutation_p.E465K|URGCP_uc003tiz.3_Missense_Mutation_p.E465K|URGCP_uc011kbj.2_Missense_Mutation_p.E465K	p.E508K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			5	1579	-			508					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1522G>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779171	0.90195	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10960	2.83;2.83;2.82;2.83;2.82;2.83	5.79	4.9	0.64082	.	0.285008	0.36854	N	0.002363	T	0.30603	0.0770	M	0.77486	2.375	0.40501	D	0.980649	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.02138	-1.1207	10	0.72032	D	0.01	-44.3626	11.8682	0.52505	0.0:0.9165:0.0:0.0835	.	499;508	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	K	465;465;499;465;508;465	ENSP00000223341:E465K;ENSP00000336872:E465K;ENSP00000384955:E499K;ENSP00000392136:E465K;ENSP00000396918:E508K;ENSP00000402803:E465K	ENSP00000223341:E465K	E	-	1	0	URGCP	43884065	0.999000	0.42202	0.957000	0.39632	0.994000	0.84299	4.288000	0.59007	2.735000	0.93741	0.655000	0.94253	GAG		0.607	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43917540	C	T	43917540	3	4	152	1	0	0	0	0	1	0	0	0	17023	864	30	3	1277	3	URGCP	7	43917540	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	5101214	43917540	115221123	53	10504											
POM121L12	285877	broad.mit.edu	37	chr7	53103790	53103790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgaccatcgggatcgcGccccctgagcgtcaggagag	7	5	15	14	5	1	3	1	2	0	1	3	5	1	4	4	3	1	0	4	3	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103790G>A	ENST00000408890.4	+	1	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721																																						uc003tpz.3																			0		p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(424-426)gcG>gcA		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							21	25	23					7																	53103790		1945	4101	6046	SO:0001819	synonymous_variant	285877							g.chr7:53103790G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.426G>A	7.37:g.53103790G>A							p.A142A	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	442	+			142					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.426G>A	CCDS43584.1																																																																																				0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103790	G	A	53103790	2	1	152	1	0	0	0	0	0	0	0	1	12241	1074	38	1		1	POM121L12	7	53103790	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	9186250	53103790	106034873	54	10505											
POM121L12	285877	broad.mit.edu	37	chr7	53103915	53103915	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggggcgctcagccAgtgccccaagggaagcgcta	7	6	15	13	2	2	0	1	0	1	0	2	1	2	1	3	3	4	3	3	3	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103915A>T	ENST00000408890.4	+	1	567	c.551A>T	c.(550-552)cAg>cTg	p.Q184L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	184										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTCAGCCAGTGCCCCAAG	0.711																																						uc003tpz.3																			0		p.Q184H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(550-552)cAg>cTg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							34	40	38					7																	53103915		1927	4123	6050	SO:0001583	missense	285877							g.chr7:53103915A>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.551A>T	7.37:g.53103915A>T	ENSP00000386133:p.Gln184Leu						p.Q184L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	567	+			184					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.551A>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981606	0.34942	.	.	ENSG00000221900	ENST00000408890	T	0.11712	2.75	2.07	-3.91	0.04168	.	.	.	.	.	T	0.07954	0.0199	L	0.29908	0.895	0.09310	N	1	P	0.36354	0.549	B	0.40534	0.332	T	0.28650	-1.0037	9	0.87932	D	0	.	4.1736	0.10341	0.3509:0.214:0.4351:0.0	.	184	Q8N7R1	P1L12_HUMAN	L	184	ENSP00000386133:Q184L	ENSP00000386133:Q184L	Q	+	2	0	POM121L12	53071409	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.419000	0.07071	-1.050000	0.03230	-1.508000	0.00951	CAG		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103915	A	T	53103915	3	4	152	1	0	0	0	0	1	0	0	0	12241	188	7	5	553	5	POM121L12	7	53103915	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	125	53103915	106034748	55	10506											
DUS4L	11062	broad.mit.edu	37	chr7	107217955	107217955	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtatttaatgctctgTcaagcacatcagcaatcata	15	11	7	8	0	4	0	3	0	1	0	4	0	4	0	0	1	3	4	0	1	6	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:107217955T>G	ENST00000265720.3	+	8	1266	c.904T>G	c.(904-906)Tca>Gca	p.S302A	DUS4L_ENST00000402620.1_Missense_Mutation_p.S181A|BCAP29_ENST00000465919.1_5'Flank|RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000379117.2_5'Flank|BCAP29_ENST00000005259.4_5'Flank|BCAP29_ENST00000445771.2_5'Flank	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	302							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TAATGCTCTGTCAAGCACATC	0.353																																						uc003veh.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(904-906)Tca>Gca		Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.							126	132	130					7																	107217955		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107217955T>G	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.904T>G	7.37:g.107217955T>G	ENSP00000265720:p.Ser302Ala					DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.S181A|DUS4L_uc022ajw.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.3_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank	p.S302A	NM_181581	NP_853559	O95620	DUS4L_HUMAN			7	1237	+			302					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.904T>G	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788539	0.70337	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.22945	1.93;1.93	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.53561	1.675	0.58432	D	0.999999	B;B	0.26318	0.146;0.146	B;B	0.29077	0.098;0.098	T	0.04454	-1.0950	10	0.20519	T	0.43	.	16.215	0.82206	0.0:0.0:0.0:1.0	.	302;302	A4D0R5;O95620	.;DUS4L_HUMAN	A	302;181	ENSP00000265720:S302A;ENSP00000385274:S181A	ENSP00000265720:S302A	S	+	1	0	DUS4L	107005191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.563000	0.82314	2.288000	0.76882	0.533000	0.62120	TCA		0.353	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		G	107217955	T	G	107217955	3	3	152	1	0	0	0	0	1	0	0	0	4808	1667	58	5	926	5	DUS4L	7	107217955	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	54114040	107217955	51920708	56	10507											
TES	26136	broad.mit.edu	37	chr7	115889257	115889257	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgacgaatccagttgcTgccaagaagaatgtctccat	13	11	8	9	1	1	3	0	1	1	2	3	4	2	3	3	0	2	2	3	0	5	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:115889257T>A	ENST00000358204.4	+	3	512	c.297T>A	c.(295-297)gcT>gcA	p.A99A	TES_ENST00000485009.1_3'UTR|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Silent_p.A90A	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	99	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATCCAGTTGCTGCCAAGAAGA	0.383																																						uc003vho.3																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(295-297)gcT>gcA		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							127	119	122					7																	115889257		2203	4300	6503	SO:0001819	synonymous_variant	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889257T>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.297T>A	7.37:g.115889257T>A						TES_uc011kmx.2_Silent_p.A99A|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.A90A|TES_uc003vhp.3_Silent_p.A90A|TES_uc022aki.1_Non-coding_Transcript	p.A99A	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	512	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	99			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	c.297T>A	CCDS5763.1																																																																																				0.383	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		A	115889257	T	A	115889257	2	1	152	1	0	0	0	0	0	0	0	1	15762	1567	55	5		5	TES	7	115889257	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	8671302	115889257	43249406	57	10508											
GRM8	2918	broad.mit.edu	37	chr7	126542691	126542691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaaaccacacatttcttCgattattggcaagagttcgg	11	12	8	10	2	1	1	0	0	1	1	3	2	1	1	1	2	2	3	1	2	3	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:126542691C>T	ENST00000339582.2	-	6	1869	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	GRM8_ENST00000358373.3_Missense_Mutation_p.R354Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R354Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R354Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	354					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CACATTTCTTCGATTATTGGC	0.348										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1060-1062)cGa>cAa		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						83	83	83					7																	126542691		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126542691C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1061G>A	7.37:g.126542691C>T	ENSP00000344173:p.Arg354Gln	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	p.R354Q	NM_000845	NP_000836	O00222	GRM8_HUMAN			4	1372	-		Prostate(267;0.186)	354					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1061G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641563	0.87859	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	4.88	4.88	0.63580	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.90363	0.6984	M	0.67700	2.07	0.58432	D	0.999999	D;D;B	0.67145	0.993;0.996;0.269	D;P;B	0.65987	0.94;0.661;0.067	D	0.88602	0.3150	10	0.26408	T	0.33	.	17.0297	0.86457	0.0:1.0:0.0:0.0	.	354;354;354	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Q	354	ENSP00000344173:R354Q;ENSP00000409790:R354Q;ENSP00000351142:R354Q;ENSP00000385731:R354Q	ENSP00000344173:R354Q	R	-	2	0	GRM8	126329927	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.772000	0.85439	2.251000	0.74343	0.511000	0.50034	CGA		0.348	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126542691	C	T	126542691	3	4	152	1	0	0	0	0	1	0	0	0	6803	884	31	2	1739	2	GRM8	7	126542691	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	10653434	126542691	32595972	58	10509											
AGAP3	116988	broad.mit.edu	37	chr7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaggaacgctggataCgggccaagtatgaacagaag	16	4	15	6	2	0	3	0	1	0	2	0	6	0	5	1	4	3	2	1	4	7	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:150840450C>T	ENST00000463381.1	+	15	1799	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766W	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622																																						uc003wjg.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2296-2298)Cgg>Tgg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.							49	56	53					7																	150840450		2119	4246	6365	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840450C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1303C>T	7.37:g.150840450C>T	ENSP00000418016:p.Arg435Trp					AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	p.R766W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2299	+			730					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2296C>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816242	0.70912	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.50548	0.74;0.74	5.28	3.4	0.38934	.	0.068783	0.64402	D	0.000013	T	0.77478	0.4136	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.99;0.975	T	0.82878	-0.0239	10	0.87932	D	0	.	9.7714	0.40591	0.1385:0.788:0.0:0.0735	.	730;265;766;435	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	W	435;265;766;730	ENSP00000418016:R435W;ENSP00000380413:R766W	ENSP00000334157:R730W	R	+	1	2	AGAP3	150471383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.716000	0.54904	1.458000	0.47871	0.655000	0.94253	CGG		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		T	150840450	C	T	150840450	3	4	152	1	0	0	0	0	1	0	0	0	369	527	19	1	2429	1	AGAP3	7	150840450	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	24297759	150840450	8298213	59	10510											
CLVS1	157807	broad.mit.edu	37	chr8	62212806	62212806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattacggcaggaagatTcttttgctgtttgcagccaa	10	12	10	9	1	1	1	0	0	1	1	1	3	1	2	2	2	4	4	2	2	3	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:62212806T>C	ENST00000519846.1	+	3	892	c.420T>C	c.(418-420)atT>atC	p.I140I	RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.I140I|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	140	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCAGGAAGATTCTTTTGCTGT	0.448																																						uc003xuh.3																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(418-420)atT>atC		Homo sapiens clavesin 1 (CLVS1), mRNA.							33	34	34					8																	62212806		2202	4300	6502	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212806T>C	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.420T>C	8.37:g.62212806T>C						CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.3_Intron	p.I140I	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			1	744	+			140			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.420T>C	CCDS6176.1																																																																																				0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		C	62212806	T	C	62212806	2	2	152	1	0	0	0	0	0	0	0	1	3571	1771	62	4		4	CLVS1	8	62212806	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08		62212806	84151216	60	10511											
C8orf84	157869	broad.mit.edu	37	chr8	73982070	73982070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccatctccagaacaaCgaaggctcacagagttcata	14	6	8	13	1	3	2	2	0	1	2	4	3	3	2	3	2	2	2	3	2	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:73982070C>T	ENST00000297354.6	-	4	851	c.647G>A	c.(646-648)cGt>cAt	p.R216H	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	216					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TCCAGAACAACGAAGGCTCAC	0.478																																						uc003xzf.3																			0											c.(646-648)cGt>cAt		Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.							98	101	100					8																	73982070		2027	4193	6220	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73982070C>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.647G>A	8.37:g.73982070C>T	ENSP00000297354:p.Arg216His						p.R216H	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			3	852	-			216					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.647G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	c	11.17	1.559735	0.27827	.	.	ENSG00000164764	ENST00000297354	T	0.24538	1.85	6.06	5.19	0.71726	.	0.169796	0.52532	N	0.000063	T	0.43456	0.1248	L	0.49778	1.585	0.41438	D	0.987906	D	0.89917	1.0	D	0.69824	0.966	T	0.20571	-1.0271	10	0.27082	T	0.32	-23.7373	15.2869	0.73835	0.0:0.9326:0.0:0.0674	.	216	Q8IVN8	RPESP_HUMAN	H	216	ENSP00000297354:R216H	ENSP00000297354:R216H	R	-	2	0	C8orf84	74144624	1.000000	0.71417	0.296000	0.24974	0.092000	0.18411	4.126000	0.57937	1.593000	0.50029	-0.119000	0.15052	CGT		0.478	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		T	73982070	C	T	73982070	3	4	152	1	0	0	0	0	1	0	0	0	2440	536	19	1	155	1	C8orf84	8	73982070	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11769264	73982070	72381952	61	10512											
LAMC3	10319	broad.mit.edu	37	chr9	133948659	133948659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaggaaggtcccagtcagCcgaccaaatggagccacctg	11	5	11	14	1	2	0	2	0	0	0	3	3	3	2	5	3	2	0	5	3	2	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:133948659C>T	ENST00000361069.4	+	20	3578	c.3445C>T	c.(3445-3447)Ccg>Tcg	p.P1149S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1149	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCCAGTCAGCCGACCAAATG	0.582																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3445-3447)Ccg>Tcg		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							51	53	52					9																	133948659		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948659C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3445C>T	9.37:g.133948659C>T	ENSP00000354360:p.Pro1149Ser						p.P1149S	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	19	3543	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1149			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3445C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376329	0.24857	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27104	1.69	3.99	3.99	0.46301	.	0.241657	0.42821	N	0.000653	T	0.29716	0.0742	M	0.67953	2.075	0.36762	D	0.883347	B	0.23937	0.094	B	0.27608	0.081	T	0.32214	-0.9915	10	0.40728	T	0.16	.	13.8052	0.63225	0.0:1.0:0.0:0.0	.	1149	Q9Y6N6	LAMC3_HUMAN	S	1149	ENSP00000354360:P1149S	ENSP00000347156:P1149S	P	+	1	0	LAMC3	132938480	0.551000	0.26497	0.095000	0.20976	0.002000	0.02628	2.395000	0.44459	2.248000	0.74166	0.555000	0.69702	CCG		0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133948659	C	T	133948659	3	4	152	1	0	0	0	0	1	0	0	0	8616	739	26	3	3523	3	LAMC3	9	133948659	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		133948659	7264772	62	10513											
KCNT1	57582	broad.mit.edu	37	chr9	138657034	138657034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagttctacgcccacccccGgctccaggtgaggcccctta	6	7	10	18	3	1	1	0	1	1	0	2	2	2	1	6	3	1	2	6	3	2	3	rs397515407		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:138657034G>A	ENST00000263604.3	+	12	1136	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	KCNT1_ENST00000371757.2_Missense_Mutation_p.R398Q|KCNT1_ENST00000487664.1_Missense_Mutation_p.R353Q|KCNT1_ENST00000298480.5_Missense_Mutation_p.R398Q|KCNT1_ENST00000488444.2_Missense_Mutation_p.R379Q|KCNT1_ENST00000486577.2_Missense_Mutation_p.R359Q|KCNT1_ENST00000490355.2_Missense_Mutation_p.R379Q|KCNT1_ENST00000491806.2_Missense_Mutation_p.R365Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	379			R -> Q (in ENFL5). {ECO:0000269|PubMed:23086396}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCCACCCCCGGCTCCAGGTG	0.642																																						uc011mdq.2																			0		p.P397T(1)|p.R398R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1192-1194)cGg>cAg		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							137	133	135					9																	138657034		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657034G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1136G>A	9.37:g.138657034G>A	ENSP00000263604:p.Arg379Gln					KCNT1_uc011mdr.2_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q	p.R398Q	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1267	+		Myeloproliferative disorder(178;0.0821)	398					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913214	0.52439	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25085	1.84;1.83;1.82;1.82	4.21	4.21	0.49690	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.23688	0.0573	L	0.28192	0.835	0.49798	D	0.999824	P;P;P;P	0.42518	0.574;0.782;0.718;0.677	B;B;B;B	0.44315	0.126;0.261;0.446;0.18	T	0.03095	-1.1073	10	0.36615	T	0.2	-29.9645	15.713	0.77646	0.0:0.0:1.0:0.0	.	365;398;353;379	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	Q	353;398;398;359;365;379;379;379	ENSP00000417851:R353Q;ENSP00000298480:R398Q;ENSP00000360822:R398Q;ENSP00000263604:R379Q	ENSP00000263604:R379Q	R	+	2	0	KCNT1	137796855	0.996000	0.38824	1.000000	0.80357	0.910000	0.53928	7.627000	0.83176	2.181000	0.69327	0.462000	0.41574	CGG		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138657034	G	A	138657034	3	1	152	1	0	0	0	0	1	0	0	0	8091	1116	39	2	1239	2	KCNT1	9	138657034	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	4708375	138657034	2556397	63	10514											
KIAA1462	57608	broad.mit.edu	37	chr10	30315264	30315264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctgaagctcaggactctCatccgtgacactgagctcac	9	10	8	14	1	3	3	3	3	1	0	6	4	5	4	2	1	2	2	2	1	1	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:30315264C>T	ENST00000375377.1	-	3	3914	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1271					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGACTCTCATCCGTGACA	0.582																																						uc009xle.2																			0		p.R1270W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3811-3813)atG>atA		Homo sapiens KIAA1462 (KIAA1462), mRNA.							52	51	51					10																	30315264		1962	4140	6102	SO:0001583	missense	57608							g.chr10:30315264C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3813G>A	10.37:g.30315264C>T	ENSP00000364526:p.Met1271Ile					KIAA1462_uc001iux.3_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.M1133I	p.M1271I	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3950	-			1271					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3813G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873427	0.51695	.	.	ENSG00000165757	ENST00000375377	T	0.14766	2.48	5.44	4.45	0.53987	.	0.042841	0.85682	D	0.000000	T	0.23492	0.0568	M	0.70275	2.135	0.46011	D	0.998811	P	0.50528	0.936	P	0.46320	0.512	T	0.02950	-1.1090	10	0.44086	T	0.13	-25.8983	16.8782	0.86057	0.137:0.863:0.0:0.0	.	1271	Q9P266	K1462_HUMAN	I	1271	ENSP00000364526:M1271I	ENSP00000364526:M1271I	M	-	3	0	KIAA1462	30355270	1.000000	0.71417	0.972000	0.41901	0.090000	0.18270	2.572000	0.45999	2.557000	0.86248	0.655000	0.94253	ATG		0.582	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		T	30315264	C	T	30315264	3	4	152	1	0	0	0	0	1	0	0	0	8234	826	29	3	274	3	KIAA1462	10	30315264	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		30315264	105219483	64	10515											
RET	5979	broad.mit.edu	37	chr10	43604497	43604497	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctggttctcaaccggaAcctctccatctcggagaacc	9	8	10	14	2	3	1	1	0	3	1	6	3	3	2	4	4	3	2	4	4	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:43604497A>T	ENST00000355710.3	+	6	1314	c.1082A>T	c.(1081-1083)aAc>aTc	p.N361I	RET_ENST00000340058.5_Missense_Mutation_p.N361I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	361					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTCAACCGGAACCTCTCCATC	0.597		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0		p.R360W(1)		NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1081-1083)aAc>aTc		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						86	73	77					10																	43604497		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604497A>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1082A>T	10.37:g.43604497A>T	ENSP00000347942:p.Asn361Ile					RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	p.N361I	NM_020975	NP_066124	P07949	RET_HUMAN			5	1272	+		Ovarian(717;0.0423)	361					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1082A>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356284	0.41700	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79554	-1.16;-1.28	5.02	3.16	0.36331	.	0.194464	0.53938	D	0.000042	T	0.70465	0.3227	L	0.34521	1.04	0.37001	D	0.895263	B;P;P	0.44734	0.134;0.756;0.842	B;B;B	0.42138	0.096;0.209;0.377	T	0.72057	-0.4405	10	0.62326	D	0.03	.	8.078	0.30729	0.1874:0.0:0.8126:0.0	.	107;361;361	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	361	ENSP00000347942:N361I;ENSP00000344798:N361I	ENSP00000344798:N361I	N	+	2	0	RET	42924503	0.987000	0.35691	0.995000	0.50966	0.401000	0.30781	1.691000	0.37721	0.506000	0.28125	-0.366000	0.07423	AAC		0.597	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43604497	A	T	43604497	3	4	152	1	0	0	0	0	1	0	0	0	13235	43	2	5	1104	5	RET	10	43604497	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	13289233	43604497	91930250	65	10516											
GPRIN2	9721	broad.mit.edu	37	chr10	47000008	47000008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctggaggaggtgccGtcccctgtgcgggatgtgcg	4	8	17	12	3	0	0	0	0	0	0	2	3	2	3	5	4	4	0	5	4	0	0	rs111800394		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:47000008G>A	ENST00000374317.1	+	3	1401	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_ENST00000374314.4_Silent_p.P376P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657													G|||	1	0.000199681	0	0	5008	,	,		35685	0		0.001	False		,,,				2504	0					uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1126-1128)ccG>ccA		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.							164	140	148					10																	47000008		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:47000008G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1128G>A	10.37:g.47000008G>A						GPRIN2_uc021ppt.1_Silent_p.P376P	p.P376P	NM_014696	NP_055511	O60269	GRIN2_HUMAN			2	1263	+			376					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1128G>A	CCDS31192.1																																																																																				0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000008	G	A	47000008	2	1	152	1	0	0	0	0	0	0	0	1	6730	1132	40	1		1	GPRIN2	10	47000008	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	3395511	47000008	88534739	66	10517											
ATRNL1	26033	broad.mit.edu	37	chr10	117061475	117061475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgcagcagtacgaaaCgatgtgttgactctaatgcc	10	11	12	8	2	1	1	0	1	1	0	1	3	1	1	1	1	5	4	1	1	3	3	rs555650933		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:117061475C>T	ENST00000355044.3	+	17	2866	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.R11*|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R914*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTACGAAACGATGTGTTGA	0.453																																						uc001lcg.3																			1	Substitution - Nonsense(1)	p.R914*(2)|p.R914Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2740-2742)Cga>Tga		Homo sapiens attractin-like 1 (ATRNL1), mRNA.							292	214	241					10																	117061475		2203	4300	6503	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:117061475C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2740C>T	10.37:g.117061475C>T	ENSP00000347152:p.Arg914*					ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.2_Non-coding_Transcript	p.R914*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	16	3126	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	914			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.2740C>T	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.247262|7.247262	0.98161|0.98161	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76506	.|0.3997	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74630	.|-0.3601	.|4	0.02654|.	T|.	1|.	-5.4211|-5.4211	19.7031|19.7031	0.96063|0.96063	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	914;11|43	.|.	ENSP00000347152:R914X|.	R|T	+|+	1|2	2|0	ATRNL1|ATRNL1	117051465|117051465	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.861000|0.861000	0.49209|0.49209	7.730000|7.730000	0.84881|0.84881	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117061475	C	T	117061475	4	4	152	1	0	0	0	0	0	1	0	0	1207	528	19	1	2806	1	ATRNL1	10	117061475	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	70061467	117061475	18473272	67	10518											
TSPAN4	7106	broad.mit.edu	37	chr11	866600	866600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatgaccatgtactgccaAgtggtcaaggcagacaccta	12	7	10	12	0	1	2	1	1	0	1	1	2	1	2	4	2	2	2	4	2	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:866600A>G	ENST00000397404.1	+	9	946	c.687A>G	c.(685-687)caA>caG	p.Q229Q	TSPAN4_ENST00000409543.2_Silent_p.Q229Q|TSPAN4_ENST00000397408.1_Silent_p.Q229Q|TSPAN4_ENST00000397411.2_Silent_p.Q229Q|TSPAN4_ENST00000397406.1_Silent_p.Q229Q|TSPAN4_ENST00000397397.2_Silent_p.Q229Q|TSPAN4_ENST00000397396.1_Silent_p.Q165Q|TSPAN4_ENST00000525201.1_Silent_p.Q165Q|TSPAN4_ENST00000346501.4_Silent_p.Q195Q|TSPAN4_ENST00000409531.1_Silent_p.Q248Q	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	229					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGCCAAGTGGTCAAGG	0.642																																						uc001lsd.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(685-687)caA>caG		Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.							123	89	101					11																	866600		2203	4299	6502	SO:0001819	synonymous_variant	7106				protein complex assembly	integral to plasma membrane		g.chr11:866600A>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.687A>G	11.37:g.866600A>G						TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	p.Q229Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	896	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	229					Q6IAP6	Silent	SNP	ENST00000397404.1	37	c.687A>G	CCDS7721.1																																																																																				0.642	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			G	866600	A	G	866600	2	3	152	1	0	0	0	0	0	0	0	1	16646	69	3	4		4	TSPAN4	11	866600	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08		866600	134139916	68	10519											
OR51S1	119692	broad.mit.edu	37	chr11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagaagtgcattgggCggtgcagggcgggctgcagg	9	5	21	6	2	0	2	0	0	0	2	0	3	0	3	0	6	3	4	0	6	2	1	rs560546339		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:4870245C>T	ENST00000322101.2	-	1	269	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R65H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572													C|||	1	0.000199681	0	0	5008	,	,		20057	0.001		0	False		,,,				2504	0					uc010qyo.2																			1	Substitution - Missense(1)	p.R65H(2)	haematopoietic_and_lymphoid_tissue(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(193-195)cGc>cAc		Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.							116	93	101					11																	4870245		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870245C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.194G>A	11.37:g.4870245C>T	ENSP00000322754:p.Arg65His						p.R65H	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	194	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	65					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.194G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380471	0.42207	.	.	ENSG00000176922	ENST00000322101	T	0.00333	8.07	4.85	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001041	T	0.00210	0.0006	L	0.39245	1.2	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.47100	-0.9143	10	0.87932	D	0	-7.7271	3.4877	0.07626	0.1696:0.4654:0.0:0.365	.	65	Q8NGJ8	O51S1_HUMAN	H	65	ENSP00000322754:R65H	ENSP00000322754:R65H	R	-	2	0	OR51S1	4826821	0.000000	0.05858	0.003000	0.11579	0.688000	0.40055	-1.163000	0.03138	0.592000	0.29728	0.563000	0.77884	CGC		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		T	4870245	C	T	4870245	3	4	152	1	0	0	0	0	1	0	0	0	11105	768	27	1	780	1	OR51S1	11	4870245	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	4003645	4870245	130136271	69	10520											
RCN1	5954	broad.mit.edu	37	chr11	32119964	32119964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgccacgtgatgagAgaagattcaaagctgcagac	14	7	12	8	1	1	6	1	2	0	4	1	7	1	6	1	0	4	3	1	0	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:32119964A>G	ENST00000054950.3	+	3	810	c.517A>G	c.(517-519)Aga>Gga	p.R173G	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Missense_Mutation_p.R122G	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	173	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ACGTGATGAGAGAAGATTCAA	0.433																																						uc010reb.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17						c.(517-519)Aga>Gga		Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.							76	71	73					11																	32119964		2202	4297	6499	SO:0001583	missense	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32119964A>G	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"EF-hand domain containing"	9934	protein-coding gene	gene with protein product	"proliferation-inducing gene 20"	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.517A>G	11.37:g.32119964A>G	ENSP00000054950:p.Arg173Gly					RCN1_uc021qfp.1_Missense_Mutation_p.R7G|RCN1_uc001mtk.3_Missense_Mutation_p.R7G	p.R173G	NM_002901	NP_002892	Q15293	RCN1_HUMAN			2	783	+	Lung SC(675;0.225)		173			EF-hand 3.		B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	c.517A>G	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	a	19.15	3.771893	0.69992	.	.	ENSG00000049449	ENST00000530348;ENST00000532942;ENST00000054950;ENST00000532721	T;T;T	0.73469	0.56;-0.75;-0.75	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.90638	0.4572	10	0.62326	D	0.03	-18.1406	15.5271	0.75919	1.0:0.0:0.0:0.0	.	173;122	Q15293;B7Z1M1	RCN1_HUMAN;.	G	7;122;173;7	ENSP00000436482:R7G;ENSP00000436422:R122G;ENSP00000054950:R173G	ENSP00000054950:R173G	R	+	1	2	RCN1	32076540	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	4.777000	0.62361	2.078000	0.62432	0.482000	0.46254	AGA		0.433	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		G	32119964	A	G	32119964	3	3	152	1	0	0	0	0	1	0	0	0	13179	296	11	4	527	4	RCN1	11	32119964	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	27249719	32119964	102886552	70	10521											
OR4C16	219428	broad.mit.edu	37	chr11	55340233	55340233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtgcagtgagttatgtCatgctaatattctcctatgt	9	18	8	6	0	2	1	1	1	1	0	3	1	2	1	1	0	2	3	1	0	4	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55340233C>T	ENST00000314634.3	+	1	630	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGAGTTATGTCATGCTAATAT	0.433																																						uc010rih.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(628-630)gtC>gtT		Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.							120	103	109					11																	55340233		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340233C>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.630C>T	11.37:g.55340233C>T							p.V210V	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			0	630	+		all_epithelial(135;0.0748)	210					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.630C>T	CCDS31502.1																																																																																				0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		T	55340233	C	T	55340233	2	4	152	1	0	0	0	0	0	0	0	1	11049	813	29	3		3	OR4C16	11	55340233	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	23220269	55340233	79666283	71	10522											
OR5D18	219438	broad.mit.edu	37	chr11	55587827	55587827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccgcaaagccttctccaCctgtgcctcccacctgactg	6	8	8	19	2	1	1	0	1	1	0	3	1	2	1	7	0	2	1	7	0	1	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55587827C>A	ENST00000333976.4	+	1	742	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241N(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCCTCC	0.507																																						uc010rin.2																			1	Substitution - Missense(1)	p.T241N(2)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(721-723)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							134	115	122					11																	55587827		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587827C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.722C>A	11.37:g.55587827C>A	ENSP00000335025:p.Thr241Asn						p.T241N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	722	+		all_epithelial(135;0.208)	241					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.722C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.433657	0.83776	.	.	ENSG00000186119	ENST00000333976	T	0.40476	1.03	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.75946	0.3919	H	0.96111	3.77	0.42146	D	0.991539	D	0.89917	1.0	D	0.97110	1.0	D	0.84845	0.0810	10	0.87932	D	0	-51.9013	17.0924	0.86625	0.0:1.0:0.0:0.0	.	241	Q8NGL1	OR5DI_HUMAN	N	241	ENSP00000335025:T241N	ENSP00000335025:T241N	T	+	2	0	OR5D18	55344403	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.498000	0.60373	2.467000	0.83353	0.573000	0.79308	ACC		0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		A	55587827	C	A	55587827	3	1	152	1	0	0	0	0	1	0	0	0	11157	507	18	5	724	5	OR5D18	11	55587827	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	247594	55587827	79418689	72	10523											
LPXN	9404	broad.mit.edu	37	chr11	58295179	58295179	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaagaaggagccagtagaAaaactggtgaagcagtcctg	16	6	12	7	0	1	3	1	1	0	2	2	4	2	4	2	2	3	2	2	2	6	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:58295179A>G	ENST00000395074.2	-	9	997	c.909T>C	c.(907-909)ttT>ttC	p.F303F	LPXN_ENST00000528489.1_Silent_p.F283F|LPXN_ENST00000528954.1_Silent_p.F308F	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	303	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCCAGTAGAAAAACTGGTGA	0.473																																						uc001nmw.3																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(907-909)ttT>ttC		Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.							37	40	39					11																	58295179		2201	4295	6496	SO:0001819	synonymous_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58295179A>G	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.909T>C	11.37:g.58295179A>G						LPXN_uc009ymp.3_Silent_p.F173F|LPXN_uc010rkj.2_Silent_p.F308F|LPXN_uc010rkk.2_Silent_p.F283F	p.F303F	NM_004811	NP_004802	O60711	LPXN_HUMAN			8	1054	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	303			LIM zinc-binding 3.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	ENST00000395074.2	37	c.909T>C	CCDS7969.1																																																																																				0.473	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		G	58295179	A	G	58295179	2	3	152	1	0	0	0	0	0	0	0	1	8929	11	1	4		4	LPXN	11	58295179	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	2707352	58295179	76711337	73	10524											
TYR	7299	broad.mit.edu	37	chr11	88911588	88911588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcatccccatagggacctAtggccaaatgaaaaatggat	14	9	9	9	0	1	1	1	1	0	0	2	3	2	3	4	3	0	0	4	3	5	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:88911588A>G	ENST00000263321.5	+	1	969	c.467A>G	c.(466-468)tAt>tGt	p.Y156C	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	156					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATAGGGACCTATGGCCAAATG	0.408																																						uc001pcs.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(466-468)tAt>tGt		Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157	149	152					11																	88911588		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911588A>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.467A>G	11.37:g.88911588A>G	ENSP00000263321:p.Tyr156Cys						p.Y156C	NM_000372	NP_000363	P14679	TYRO_HUMAN			0	549	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	156					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.467A>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	9.909	1.209111	0.22205	.	.	ENSG00000077498	ENST00000263321	D	0.84070	-1.8	5.97	4.83	0.62350	Uncharacterised domain, di-copper centre (2);	0.558524	0.21189	N	0.078663	D	0.91626	0.7354	M	0.91717	3.235	0.45477	D	0.998448	D	0.64830	0.994	P	0.61940	0.896	D	0.92293	0.5843	9	.	.	.	.	12.5677	0.56318	0.8753:0.0:0.0:0.1247	.	156	P14679	TYRO_HUMAN	C	156	ENSP00000263321:Y156C	.	Y	+	2	0	TYR	88551236	0.870000	0.30015	0.976000	0.42696	0.080000	0.17528	2.677000	0.46892	1.054000	0.40438	-0.336000	0.08194	TAT		0.408	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		G	88911588	A	G	88911588	3	3	152	1	0	0	0	0	1	0	0	0	16810	449	16	4	469	4	TYR	11	88911588	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	30616409	88911588	46094928	74	10525											
FAT3	120114	broad.mit.edu	37	chr11	92577445	92577445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgatgtggtcgtgcatgtgGagcagttggtgcatgagatg	7	13	17	4	1	0	2	0	2	0	1	1	4	0	3	0	3	3	4	0	3	0	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:92577445G>C	ENST00000298047.6	+	18	10929	c.10912G>C	c.(10912-10914)Gag>Cag	p.E3638Q	FAT3_ENST00000525166.1_Missense_Mutation_p.E3488Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E3638Q|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3638	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGCATGTGGAGCAGTTGGT	0.557										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10912-10914)Gag>Cag		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							125	130	129					11																	92577445		2174	4277	6451	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577445G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10912G>C	11.37:g.92577445G>C	ENSP00000298047:p.Glu3638Gln	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.4_Missense_Mutation_p.E78Q	p.E3638Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			17	10929	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3638			Cadherin 33.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10912G>C		.	.	.	.	.	.	.	.	.	.	G	11.81	1.749647	0.30955	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08458	3.09;3.09;3.09	5.82	4.9	0.64082	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.27454	0.0674	M	0.73962	2.25	0.80722	D	1	D;B	0.89917	1.0;0.273	D;B	0.69824	0.966;0.105	T	0.07404	-1.0774	9	0.20046	T	0.44	.	17.0309	0.86461	0.0:0.1271:0.8729:0.0	.	3638;3638	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3638;3638;3488	ENSP00000298047:E3638Q;ENSP00000387040:E3638Q;ENSP00000432586:E3488Q	ENSP00000298047:E3638Q	E	+	1	0	FAT3	92217093	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.414000	0.59802	1.452000	0.47756	0.561000	0.74099	GAG		0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92577445	G	C	92577445	3	2	152	1	0	0	0	0	1	0	0	0	5691	1175	41	5	10982	5	FAT3	11	92577445	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3665857	92577445	42429071	75	10526											
OR10G8	219869	broad.mit.edu	37	chr11	123901051	123901051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagcctttcagacctgtgCctcccactgtatcgtggtcc	6	11	9	15	1	1	2	1	0	0	2	4	2	3	2	5	1	2	1	5	1	1	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:123901051C>G	ENST00000431524.1	+	1	755	c.722C>G	c.(721-723)gCc>gGc	p.A241G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGACCTGTGCCTCCCACTGT	0.547																																						uc001pzp.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(721-723)gCc>gGc		Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.							167	141	150					11																	123901051		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901051C>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.722C>G	11.37:g.123901051C>G	ENSP00000389072:p.Ala241Gly						p.A241G	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	722	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	241					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.722C>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195656	0.22037	.	.	ENSG00000234560	ENST00000431524	T	0.39787	1.06	2.91	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.345666	0.20944	N	0.082863	T	0.27454	0.0674	N	0.05414	-0.055	0.26630	N	0.972496	P	0.43024	0.798	P	0.56343	0.796	T	0.27020	-1.0086	10	0.07030	T	0.85	.	3.0715	0.06233	0.0:0.4489:0.2262:0.3248	.	241	Q8NGN5	O10G8_HUMAN	G	241	ENSP00000389072:A241G	ENSP00000389072:A241G	A	+	2	0	OR10G8	123406261	0.000000	0.05858	0.998000	0.56505	0.835000	0.47333	-1.509000	0.02264	0.533000	0.28675	0.557000	0.71058	GCC		0.547	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		G	123901051	C	G	123901051	3	3	152	1	0	0	0	0	1	0	0	0	10903	739	26	5	724	5	OR10G8	11	123901051	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	31323606	123901051	11105465	76	10527											
CACNA1C	775	broad.mit.edu	37	chr12	2675631	2675631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgcagaaggaagtgcCgcgccgcagtcaagtctaat	10	8	13	10	3	3	1	1	0	2	1	3	2	3	2	2	2	2	3	2	2	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:2675631C>T	ENST00000347598.4	+	12	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	CACNA1C_ENST00000402845.3_Missense_Mutation_p.R518C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R518C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R518C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R518C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R543C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R518C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	518					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGGAAGTGCCGCGCCGCAGT	0.562																																						uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1552-1554)Cgc>Tgc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						49	55	53					12																	2675631		1988	4151	6139	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2675631C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1552C>T	12.37:g.2675631C>T	ENSP00000266376:p.Arg518Cys					CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	p.R518C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	11	1865	+			518					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1552C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052889	0.75960	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.32	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	H	0.96691	3.865	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.997;0.985;0.995;0.999;0.997;0.999;0.988;0.993;0.999;0.997;0.983;0.999;0.993;0.997;0.995;0.993;0.997;0.988;0.995;0.999;0.999;0.995;0.995;0.997	D	0.98525	1.0625	10	0.87932	D	0	.	13.1219	0.59331	0.2916:0.7084:0.0:0.0	.	187;518;515;518;518;518;518;518;518;518;518;518;489;518;518;518;518;518;518;518;518;518;518;518;518;518	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	543;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;359	ENSP00000336982:R543C;ENSP00000382563:R518C;ENSP00000437936:R518C;ENSP00000382552:R518C;ENSP00000382547:R518C;ENSP00000382506:R518C;ENSP00000382530:R518C;ENSP00000382546:R518C;ENSP00000382500:R518C;ENSP00000382549:R518C;ENSP00000266376:R518C;ENSP00000382515:R518C;ENSP00000382510:R518C;ENSP00000341092:R518C;ENSP00000382537:R518C;ENSP00000329877:R518C;ENSP00000382557:R518C;ENSP00000385724:R518C;ENSP00000382512:R518C;ENSP00000382542:R518C;ENSP00000382526:R518C;ENSP00000385896:R518C;ENSP00000382504:R518C	ENSP00000323129:R359C	R	+	1	0	CACNA1C	2545892	0.998000	0.40836	0.902000	0.35471	0.651000	0.38670	2.954000	0.49113	1.442000	0.47568	0.563000	0.77884	CGC		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2675631	C	T	2675631	3	4	152	1	0	0	0	0	1	0	0	0	2540	652	23	2	1706	2	CACNA1C	12	2675631	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		2675631	131176264	77	10528											
CREBL2	1389	broad.mit.edu	37	chr12	12765120	12765120	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgcgatggatgacagtaAggtaagtcttgtggtttgca	9	12	14	6	2	1	1	0	1	1	0	1	3	1	2	1	3	2	4	1	3	2	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:12765120A>C	ENST00000228865.2	+	1	295	c.14A>C	c.(13-15)aAg>aCg	p.K5T	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	5					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		GATGACAGTAAGGTAAGTCTT	0.677																																						uc001rap.1																			0				large_intestine(1)	1						c.e1+1		Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.							86	83	84					12																	12765120		2203	4300	6503	SO:0001630	splice_region_variant	1389				cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12765120A>C	AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"basic leucine zipper proteins"	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.15+1A>C	12.37:g.12765120A>C							p.K5_splice	NM_001310	NP_001301	O60519	CRBL2_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0503)	1	291	+		Prostate(47;0.0684)	5					B5BUM5	Missense_Mutation	SNP	ENST00000228865.2	37	c.15_splice	CCDS8651.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529265	0.85706	.	.	ENSG00000111269	ENST00000228865	.	.	.	5.23	5.23	0.72850	.	0.144057	0.64402	D	0.000007	T	0.38134	0.1029	N	0.22421	0.69	0.31980	N	0.606053	P	0.51653	0.947	P	0.53490	0.727	T	0.47598	-0.9105	9	0.44086	T	0.13	-18.3905	7.6523	0.28354	0.9082:0.0:0.0918:0.0	.	5	O60519	CRBL2_HUMAN	T	5	.	ENSP00000228865:K5T	K	+	2	0	CREBL2	12656387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.333000	0.59285	2.184000	0.69523	0.533000	0.62120	AAG		0.677	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400660.1	NM_001310	Missense_Mutation	C	12765120	A	C	12765120	5	2	152	1	0	0	0	0	0	0	1	0	3862	86	3	5	16	5	CREBL2	12	12765120	Splice_Site	SNP	A	TCGA-19-1390-01A-01D-1495-08	10089489	12765120	121086775	78	10529											
CNTN1	1272	broad.mit.edu	37	chr12	41410534	41410534	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttggttacatagtggcAtttaagccatttgatggaga	12	15	10	4	0	0	2	0	1	0	1	0	3	0	2	1	3	2	2	1	3	4	7			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:41410534A>T	ENST00000551295.2	+	19	2352	c.2235A>T	c.(2233-2235)gcA>gcT	p.A745A	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.A745A|CNTN1_ENST00000348761.2_Silent_p.A734A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	745	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACATAGTGGCATTTAAGCCAT	0.368																																						uc001rmm.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2233-2235)gcA>gcT		Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.							95	85	88					12																	41410534		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410534A>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2235A>T	12.37:g.41410534A>T						CNTN1_uc001rmn.1_Silent_p.A734A	p.A745A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			18	2348	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	745			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2235A>T	CCDS8737.1																																																																																				0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		T	41410534	A	T	41410534	2	4	152	1	0	0	0	0	0	0	0	1	3640	204	8	5		5	CNTN1	12	41410534	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	28645414	41410534	92441361	79	10530											
SRGAP1	57522	broad.mit.edu	37	chr12	64491111	64491111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccgtgggctggaaaaccCcctctttcctaaggaaagat	10	11	9	11	1	1	1	0	0	1	1	3	3	3	3	4	3	1	1	4	3	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:64491111C>T	ENST00000355086.3	+	15	2293	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.P567L|SRGAP1_ENST00000543397.1_Missense_Mutation_p.P527L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	590	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTGGAAAACCCCCTCTTTCCT	0.378																																						uc010ssp.1																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1768-1770)cCc>cTc		Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.							93	91	92					12																	64491111		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491111C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1769C>T	12.37:g.64491111C>T	ENSP00000347198:p.Pro590Leu					SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	p.P590L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	14	1825	+			590			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1769C>T	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247279	0.95305	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.58358	0.34;0.34;0.34	5.53	5.53	0.82687	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35013	U	0.003518	T	0.82263	0.4999	H	0.96460	3.825	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.976;0.982	D	0.87448	0.2399	9	.	.	.	.	19.8385	0.96670	0.0:1.0:0.0:0.0	.	590;527	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	L	590;567;527	ENSP00000347198:P590L;ENSP00000350480:P567L;ENSP00000437948:P527L	.	P	+	2	0	SRGAP1	62777378	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.726000	0.84824	2.761000	0.94854	0.655000	0.94253	CCC		0.378	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			T	64491111	C	T	64491111	3	4	152	1	0	0	0	0	1	0	0	0	15144	623	22	3	1827	3	SRGAP1	12	64491111	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	23080577	64491111	69360784	80	10531											
PTPRB	5787	broad.mit.edu	37	chr12	70949684	70949684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgctgtcttcaaccacCtcgctggtcatgccggccga	7	10	10	14	3	3	0	2	0	1	0	4	1	3	0	4	2	3	2	4	2	2	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:70949684C>T	ENST00000261266.5	-	17	4334	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	PTPRB_ENST00000550358.1_Silent_p.E1565E|PTPRB_ENST00000451516.2_Silent_p.E1345E|PTPRB_ENST00000334414.6_Silent_p.E1653E|PTPRB_ENST00000550857.1_Silent_p.E1345E|PTPRB_ENST00000538708.1_Silent_p.E1345E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1435	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAACCACCTCGCTGGTCA	0.527																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4303-4305)gaG>gaA		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							105	104	104					12																	70949684		2024	4181	6205	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949684C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4305G>A	12.37:g.70949684C>T						PTPRB_uc010sto.2_Silent_p.E1345E|PTPRB_uc010stp.2_Silent_p.E1345E|PTPRB_uc001swc.4_Silent_p.E1653E|PTPRB_uc001swa.4_Silent_p.E1565E	p.E1435E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4335	-	Renal(347;0.236)		1435			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4305G>A	CCDS44944.1																																																																																				0.527	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			T	70949684	C	T	70949684	2	4	152	1	0	0	0	0	0	0	0	1	12796	680	24	3		3	PTPRB	12	70949684	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	6458573	70949684	62902211	81	10532											
PABPC3	5042	broad.mit.edu	37	chr13	25671682	25671682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagcccagtgctatccGcccaggtgctcctagagtac	11	8	9	13	1	0	1	0	0	0	1	2	1	2	1	4	1	4	3	4	1	5	4	rs371964552		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:25671682G>A	ENST00000281589.3	+	1	1383	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	449					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGCTATCCGCCCAGGTGCT	0.502																																						uc001upy.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1345-1347)cGc>cAc		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							122	120	121					13																	25671682		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671682G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1346G>A	13.37:g.25671682G>A	ENSP00000281589:p.Arg449His						p.R449H	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	1407	+		Lung SC(185;0.0225)|Breast(139;0.0602)	449					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1346G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.826	0.153547	0.09185	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	0.875	0.19130	.	0.132256	0.32987	U	0.005420	T	0.13884	0.0336	N	0.11724	0.165	0.43141	D	0.994897	B	0.11235	0.004	B	0.06405	0.002	T	0.08659	-1.0711	10	0.24483	T	0.36	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	449	Q9H361	PABP3_HUMAN	H	449	ENSP00000281589:R449H	ENSP00000281589:R449H	R	+	2	0	PABPC3	24569682	1.000000	0.71417	0.917000	0.36280	0.039000	0.13416	3.229000	0.51278	0.759000	0.33084	0.313000	0.20887	CGC		0.502	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671682	G	A	25671682	3	1	152	1	0	0	0	0	1	0	0	0	11365	1087	38	1	1348	1	PABPC3	13	25671682	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		25671682	89498196	82	10533											
ATP8A2	51761	broad.mit.edu	37	chr13	26273468	26273468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcactctcgtgcaaagCggtcatatgctgcaggtagg	8	11	13	9	2	2	0	1	0	1	0	3	0	2	0	0	4	4	5	0	4	3	3	rs542606008		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:26273468C>T	ENST00000381655.2	+	25	2511	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A750V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	750					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCGTGCAAAGCGGTCATATGC	0.522																																						uc001uqk.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2368-2370)gCg>gTg		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.							65	64	64					13																	26273468		1952	4139	6091	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273468C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2369C>T	13.37:g.26273468C>T	ENSP00000371070:p.Ala790Val					ATP8A2_uc010tdi.2_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	p.A790V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	24	2511	+		Breast(139;0.0201)|Lung SC(185;0.0225)	750					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2369C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719961	0.48728	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.86562	-2.14;-2.14	5.88	5.88	0.94601	HAD-like domain (1);	0.053116	0.85682	D	0.000000	D	0.84813	0.5555	L	0.53617	1.68	0.80722	D	1	P;P;P	0.39352	0.469;0.669;0.469	B;B;B	0.34418	0.182;0.114;0.182	D	0.83410	0.0027	10	0.33940	T	0.23	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	750;570;750	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	V	790;750;570	ENSP00000371070:A790V;ENSP00000255283:A750V	ENSP00000255283:A750V	A	+	2	0	ATP8A2	25171468	1.000000	0.71417	0.340000	0.25575	0.230000	0.25150	7.813000	0.86123	2.789000	0.95967	0.655000	0.94253	GCG		0.522	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26273468	C	T	26273468	3	4	152	1	0	0	0	0	1	0	0	0	1193	768	27	1	2467	1	ATP8A2	13	26273468	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	601786	26273468	88896410	83	10534											
RNASEH2B	79621	broad.mit.edu	37	chr13	51530575	51530575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtattgataccttttttGgggtaaaaaataaaaaaaaa	21	12	6	2	0	0	1	0	1	0	0	0	1	0	1	1	2	1	2	1	2	11	8			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:51530575G>C	ENST00000336617.3	+	11	1303	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	302					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TACCTTTTTTGGGGTAAAAAA	0.299																																						uc001vfa.4																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(904-906)Ggg>Cgg		Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.							23	26	25					13																	51530575		2196	4289	6485	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530575G>C	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.904G>C	13.37:g.51530575G>C	ENSP00000337623:p.Gly302Arg					RNASEH2B_uc001vfb.4_Intron	p.G302R	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	10	1303	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	302					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.904G>C	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591563	0.28357	.	.	ENSG00000136104	ENST00000336617;ENST00000539292	D	0.96774	-4.12	6.06	6.06	0.98353	.	0.335255	0.38326	N	0.001723	D	0.93119	0.7809	L	0.45051	1.395	0.80722	D	1	B	0.20261	0.043	B	0.19148	0.024	D	0.88186	0.2874	10	0.27785	T	0.31	-1.9885	11.5047	0.50459	0.0811:0.0:0.9189:0.0	.	302	Q5TBB1	RNH2B_HUMAN	R	302	ENSP00000337623:G302R	ENSP00000337623:G302R	G	+	1	0	RNASEH2B	50428576	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.167000	0.58209	2.871000	0.98454	0.655000	0.94253	GGG		0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		C	51530575	G	C	51530575	3	2	152	1	0	0	0	0	1	0	0	0	13413	1348	47	5	946	5	RNASEH2B	13	51530575	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	25257107	51530575	63639303	84	10535											
PCDH20	64881	broad.mit.edu	37	chr13	61985658	61985658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaatctctggttctttTcttaaaagactctcaatgta	12	18	4	7	0	4	1	1	0	4	1	6	1	4	1	0	1	0	2	0	1	6	7			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:61985658T>C	ENST00000409186.1	-	5	4679	c.2574A>G	c.(2572-2574)agA>agG	p.R858R	PCDH20_ENST00000409204.4_Silent_p.R858R			Q8N6Y1	PCD20_HUMAN	protocadherin 20	858	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGTTCTTTTCTTAAAAGAC	0.408																																						uc001vid.4																			0		p.S858C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2572-2574)agA>agG		Homo sapiens protocadherin 20 (PCDH20), mRNA.							74	72	72					13																	61985658		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985658T>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2574A>G	13.37:g.61985658T>C						PCDH20_uc010thj.2_Silent_p.R858R	p.R858R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2938	-		Breast(118;0.195)|Prostate(109;0.229)	831					A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2574A>G	CCDS9442.2																																																																																				0.408	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		C	61985658	T	C	61985658	2	2	152	1	0	0	0	0	0	0	0	1	11515	1780	62	4		4	PCDH20	13	61985658	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	10455083	61985658	53184220	85	10536											
MYO16	23026	broad.mit.edu	37	chr13	109859100	109859100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgcctcccccaccaccTtgcaagaagcccagccttct	8	7	8	18	0	1	1	0	0	1	1	2	1	2	1	7	1	4	1	7	1	2	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:109859100T>C	ENST00000357550.2	+	34	5534	c.5493T>C	c.(5491-5493)ccT>ccC	p.P1831P	MYO16_ENST00000356711.2_Silent_p.P1831P	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCACCACCTTGCAAGAAGC	0.597																																						uc010agk.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5557-5559)ccT>ccC		Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.							48	46	47					13																	109859100		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109859100T>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5493T>C	13.37:g.109859100T>C						MYO16_uc001vqt.1_Silent_p.P1831P	p.P1853P	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		34	6181	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1831						Silent	SNP	ENST00000357550.2	37	c.5559T>C	CCDS32008.1																																																																																				0.597	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		C	109859100	T	C	109859100	2	2	152	1	0	0	0	0	0	0	0	1	10064	1596	56	4		4	MYO16	13	109859100	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	47873442	109859100	5310778	86	10537											
FKBP3	2287	broad.mit.edu	37	chr14	45587256	45587256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggctgtcctttctttcCgtaagcccattctggttcaa	7	15	7	12	1	4	0	2	0	2	0	6	0	6	0	3	2	1	3	3	2	2	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr14:45587256C>T	ENST00000216330.3	-	7	1005	c.595G>A	c.(595-597)Gga>Aga	p.G199R	FKBP3_ENST00000396062.3_Missense_Mutation_p.G199R			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	199	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTTTCTTTCCGTAAGCCCAT	0.378																																						uc010tqf.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(595-597)Gga>Aga		Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.							161	168	165					14																	45587256		2203	4300	6503	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45587256C>T	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"FK506-binding protein 3 (25kD)"			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.595G>A	14.37:g.45587256C>T	ENSP00000216330:p.Gly199Arg						p.G199R	NM_002013	NP_002004	Q00688	FKBP3_HUMAN			5	945	-			199			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.595G>A	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380796	0.95945	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.68624	-0.34;-0.34	5.87	5.87	0.94306	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93144	0.6544	10	0.87932	D	0	-9.7228	19.8196	0.96589	0.0:1.0:0.0:0.0	.	199	Q00688	FKBP3_HUMAN	R	199	ENSP00000216330:G199R;ENSP00000379374:G199R	ENSP00000216330:G199R	G	-	1	0	FKBP3	44657006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.769000	0.85360	2.770000	0.95276	0.650000	0.86243	GGA		0.378	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		T	45587256	C	T	45587256	3	4	152	1	0	0	0	0	1	0	0	0	5909	661	23	2	87	2	FKBP3	14	45587256	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		45587256	61762284	87	10538											
SPINT1	6692	broad.mit.edu	37	chr15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctggggctcaggCgactttcccccagggtgagt	6	8	15	12	1	2	1	1	1	1	0	3	2	3	1	2	5	1	3	2	5	0	1	rs145193299		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000431806.1_Intron|SPINT1_ENST00000562057.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0	0	5008	,	,		14296	0		0	False		,,,				2504	0.001					uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(946-948)gCg>gTg		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88	99	96		,,947	-2.4	0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		T	41146113	C	T	41146113	3	4	152	1	0	0	0	0	1	0	0	0	15067	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		41146113	61385279	88	10539											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364081	42364081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgtacttcaggaaaccGacctcatagggggagaactc	11	6	11	13	2	2	1	2	0	0	1	3	4	2	2	4	3	3	1	4	3	4	3	rs200945224		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:42364081G>A	ENST00000290472.3	-	15	1558	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	488	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAAACCGACCTCATAGG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		17278	0		0	False		,,,				2504	0					uc001zox.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1462-1464)gtC>gtT		Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.		G		0,4406		0,0,2203	41	37	38		1464	-3.2	0.7	15		38	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PLA2G4D	NM_178034.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		488/819	42364081	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364081G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1464C>T	15.37:g.42364081G>A							p.V488V	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	14	1559	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	488			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1464C>T	CCDS32203.1																																																																																				0.607	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		A	42364081	G	A	42364081	2	1	152	1	0	0	0	0	0	0	0	1	12004	1045	37	2		2	PLA2G4D	15	42364081	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	1217968	42364081	60167311	89	10540											
ATP8B4	79895	broad.mit.edu	37	chr15	50211036	50211036	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccattttcaagttacCttgtttgtctcctgttagga	9	17	6	9	0	2	0	1	0	1	0	4	1	3	1	3	1	2	3	3	1	4	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:50211036C>A	ENST00000284509.6	-	19	2176	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	ATP8B4_ENST00000559829.1_Splice_Site_p.E679*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	679						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.e19+1		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							143	128	133					15																	50211036		2196	4294	6490	SO:0001630	splice_region_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50211036C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2035+1G>T	15.37:g.50211036C>A						ATP8B4_uc010ber.3_Splice_Site_p.E552_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E489_splice|ATP8B4_uc010ufe.2_Splice_Site	p.E679_splice	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2177	-		all_lung(180;0.00183)	679					Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.2035_splice	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	40	8.220243	0.98712	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	.	.	.	X	679	.	.	E	-	1	0	ATP8B4	47998328	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.468000	0.80943	2.579000	0.87056	0.650000	0.86243	GAA		0.318	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	Nonsense_Mutation	A	50211036	C	A	50211036	5	1	152	1	0	0	0	0	0	0	1	0	1197	695	24	5	1583	5	ATP8B4	15	50211036	Splice_Site	SNP	C	TCGA-19-1390-01A-01D-1495-08	7846955	50211036	52320356	90	10541											
ADAM10	102	broad.mit.edu	37	chr15	58925426	58925426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttatgtccaacttcgtgaGcaaaagtaatgtgagagact	14	11	10	6	1	0	3	0	2	0	1	2	4	1	3	1	0	2	3	1	0	5	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:58925426G>A	ENST00000260408.3	-	9	1588	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	ADAM10_ENST00000396140.2_Missense_Mutation_p.A81V|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	382	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTTCGTGAGCAAAAGTAAT	0.328																																						uc002afd.1																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1144-1146)gCt>gTt		Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.							98	94	95					15																	58925426		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925426G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1145C>T	15.37:g.58925426G>A	ENSP00000260408:p.Ala382Val					ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	p.A382V	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	8	1589	-			382			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1145C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314953	0.95655	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.92149	-2.98;-2.98	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.96349	0.9257	10	0.66056	D	0.02	-20.4792	20.099	0.97865	0.0:0.0:1.0:0.0	.	81;382	B4DU28;O14672	.;ADA10_HUMAN	V	382;201;81	ENSP00000260408:A382V;ENSP00000379444:A81V	ENSP00000260408:A382V	A	-	2	0	ADAM10	56712718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.752000	0.94435	0.655000	0.94253	GCT		0.328	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		A	58925426	G	A	58925426	3	1	152	1	0	0	0	0	1	0	0	0	234	971	34	3	1133	3	ADAM10	15	58925426	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	8714390	58925426	43605966	91	10542											
TMEM202	338949	broad.mit.edu	37	chr15	72700088	72700088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctgtgatgaaaacGtcactgtgattccaacagag	11	9	10	11	2	1	4	1	3	0	1	2	4	2	4	3	0	3	0	3	0	3	1	rs143076809		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:72700088G>A	ENST00000341689.3	+	5	730	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	226						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGATGAAAACGTCACTGTGAT	0.478													G|||	1	0.000199681	0	0	5008	,	,		19358	0.001		0	False		,,,				2504	0					uc002auq.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(676-678)Gtc>Atc		Homo sapiens transmembrane protein 202 (TMEM202), mRNA.		G	ILE/VAL	1,4397	2.1+/-5.4	0,1,2198	89	86	87		676	0.3	0	15	dbSNP_134	87	0,8594		0,0,4297	yes	missense	TMEM202	NM_001080462.1	29	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	226/274	72700088	1,12991	2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72700088G>A		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.676G>A	15.37:g.72700088G>A	ENSP00000340212:p.Val226Ile					TMEM202_uc002aur.3_Non-coding_Transcript	p.V226I	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			4	676	+			226						Missense_Mutation	SNP	ENST00000341689.3	37	c.676G>A	CCDS32287.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.910	0.736268	0.15574	2.27E-4	0.0	ENSG00000187806	ENST00000341689	T	0.50548	0.74	4.61	0.27	0.15635	.	0.724570	0.12009	N	0.508044	T	0.26629	0.0651	N	0.21097	0.63	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.16305	-1.0407	10	0.41790	T	0.15	-0.0498	1.6958	0.02862	0.1887:0.1609:0.485:0.1654	.	226	A6NGA9	TM202_HUMAN	I	226	ENSP00000340212:V226I	ENSP00000340212:V226I	V	+	1	0	TMEM202	70487142	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.057000	0.14279	0.175000	0.19841	-0.254000	0.11334	GTC		0.478	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		A	72700088	G	A	72700088	3	1	152	1	0	0	0	0	1	0	0	0	16124	1145	40	1	694	1	TMEM202	15	72700088	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13774662	72700088	29831304	92	10543											
SCAMP5	192683	broad.mit.edu	37	chr15	75305137	75305137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaagcgcctctactacCtctggatgtgtgagtgccat	8	11	10	12	1	2	2	0	2	2	0	2	3	2	3	4	1	4	0	4	1	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:75305137C>T	ENST00000361900.6	+	4	334	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	SCAMP5_ENST00000545456.1_Missense_Mutation_p.P24L|SCAMP5_ENST00000562212.1_Missense_Mutation_p.L43F|SCAMP5_ENST00000425597.3_Missense_Mutation_p.L43F|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	43					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CCTCTACTACCTCTGGATGTG	0.607																																						uc002azn.2																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(127-129)Ctc>Ttc		Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.							72	72	72					15																	75305137		2050	4192	6242	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75305137C>T	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.127C>T	15.37:g.75305137C>T	ENSP00000355387:p.Leu43Phe					SCAMP5_uc002azl.2_Missense_Mutation_p.L43F|SCAMP5_uc002azm.2_Missense_Mutation_p.L43F|SCAMP5_uc002azk.2_Missense_Mutation_p.L43F|SCAMP5_uc010uly.2_Missense_Mutation_p.P24L	p.L43F	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN			2	314	+			43					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.127C>T	CCDS45306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356580|4.356580	0.82243|0.82243	.|.	.|.	ENSG00000198794|ENSG00000198794	ENST00000361900;ENST00000425597|ENST00000545456	T;T|T	0.21031|0.21734	2.03;2.03|1.99	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.125475|.	0.56097|.	D|.	0.000034|.	T|T	0.30230|0.30230	0.0758|0.0758	M|M	0.84846|0.84846	2.72|2.72	0.31262|0.31262	N|N	0.69278|0.69278	D;D|B	0.76494|0.10296	0.999;0.999|0.003	D;D|B	0.83275|0.09377	0.964;0.996|0.004	T|T	0.28870|0.28870	-1.0030|-1.0030	10|9	0.66056|0.66056	D|D	0.02|0.02	-7.2444|-7.2444	10.5733|10.5733	0.45212|0.45212	0.0:0.912:0.0:0.088|0.0:0.912:0.0:0.088	.|.	43;43|24	Q8TAC9-2;Q8TAC9|Q8TAC9-3	.;SCAM5_HUMAN|.	F|L	43|24	ENSP00000355387:L43F;ENSP00000406547:L43F|ENSP00000439685:P24L	ENSP00000355387:L43F|ENSP00000439685:P24L	L|P	+|+	1|2	0|0	SCAMP5|SCAMP5	73092190|73092190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.716000|4.716000	0.61916|0.61916	2.488000|2.488000	0.83962|0.83962	0.609000|0.609000	0.83330|0.83330	CTC|CCT		0.607	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		T	75305137	C	T	75305137	3	4	152	1	0	0	0	0	1	0	0	0	13874	681	24	3	133	3	SCAMP5	15	75305137	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2605049	75305137	27226255	93	10544											
CORO1A	11151	broad.mit.edu	37	chr16	30198720	30198720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaggaccgtccccaCgaggggacccggcccgtgcg	8	2	16	15	5	0	1	0	0	0	1	1	5	1	3	5	5	1	0	5	5	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:30198720C>T	ENST00000219150.5	+	6	959	c.654C>T	c.(652-654)caC>caT	p.H218H	CORO1A_ENST00000565497.1_Silent_p.H218H|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Silent_p.H218H|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	218					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCGTCCCCACGAGGGGACCC	0.667																																						uc010bzq.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(652-654)caC>caT		Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.							34	34	34					16																	30198720		2197	4300	6497	SO:0001819	synonymous_variant	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30198720C>T	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.654C>T	16.37:g.30198720C>T						BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.H218H|CORO1A_uc002dwx.3_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|CORO1A_uc002dwz.1_5'Flank	p.H218H	NM_001193333	NP_009005	P31146	COR1A_HUMAN			6	1089	+			218					B2RBL1|Q2YD73	Silent	SNP	ENST00000219150.5	37	c.654C>T	CCDS10673.1																																																																																				0.667	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		T	30198720	C	T	30198720	2	4	152	1	0	0	0	0	0	0	0	1	3753	535	19	1		1	CORO1A	16	30198720	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08		30198720	60156033	94	10545											
ARMC5	79798	broad.mit.edu	37	chr16	31471307	31471307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcgcagactcggaggCatactccctttgggtaagtg	9	9	14	9	2	0	1	0	0	0	1	2	3	1	2	1	3	2	3	1	3	3	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:31471307C>T	ENST00000563544.1	+	2	1008	c.462C>T	c.(460-462)ggC>ggT	p.G154G	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.G186G|ARMC5_ENST00000412665.2_5'UTR|ARMC5_ENST00000268314.4_Silent_p.G154G|ARMC5_ENST00000457010.2_Silent_p.G154G|ARMC5_ENST00000408912.3_Silent_p.G249G			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	154										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCGGAGGCATACTCCCTT	0.597																																						uc010vfn.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(745-747)ggC>ggT		Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.							53	57	56					16																	31471307		2026	4178	6204	SO:0001819	synonymous_variant	79798						binding	g.chr16:31471307C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.462C>T	16.37:g.31471307C>T						ARMC5_uc010vfo.2_Silent_p.G186G|ARMC5_uc002ecc.3_Silent_p.G154G|ARMC5_uc002eca.4_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G|ARMC5_uc010vfp.2_Silent_p.G154G	p.G249G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			2	871	+			154					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.747C>T	CCDS45472.1																																																																																				0.597	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31471307	C	T	31471307	2	4	152	1	0	0	0	0	0	0	0	1	954	697	25	3		3	ARMC5	16	31471307	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	1272587	31471307	58883446	95	10546											
LRRC50	123872	broad.mit.edu	37	chr16	84203678	84203678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccagagccagaggggaCcctcccagctgagaccctgc	9	4	13	15	0	0	3	0	1	0	3	2	5	2	4	5	3	3	1	5	3	0	0	rs200666817		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:84203678C>T	ENST00000378553.5	+	8	1368	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	415	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCAGAGGGGACCCTCCCAGCT	0.617													C|||	1	0.000199681	0	0	5008	,	,		18013	0.001		0	False		,,,				2504	0					uc002fhl.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1243-1245)aCc>aTc		Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.							65	68	67					16																	84203678		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203678C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1244C>T	16.37:g.84203678C>T	ENSP00000367815:p.Thr415Ile					DNAAF1_uc010vnw.2_Missense_Mutation_p.T179I	p.T415I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			7	1425	+			415			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1244C>T	CCDS10943.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.234	0.599825	0.13939	.	.	ENSG00000154099	ENST00000378553	T	0.25250	1.81	2.97	-5.94	0.02247	.	.	.	.	.	T	0.11665	0.0284	N	0.22421	0.69	0.09310	N	1	B;B	0.33171	0.4;0.248	B;B	0.33620	0.167;0.06	T	0.14615	-1.0466	9	0.39692	T	0.17	.	0.5471	0.00656	0.2346:0.1982:0.1589:0.4083	.	179;415	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	I	415	ENSP00000367815:T415I	ENSP00000367815:T415I	T	+	2	0	DNAAF1	82761179	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.205000	0.00559	-1.995000	0.00971	0.491000	0.48974	ACC		0.617	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		T	84203678	C	T	84203678	3	4	152	1	0	0	0	0	1	0	0	0	9009	507	18	3	1274	3	LRRC50	16	84203678	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	52732371	84203678	6151075	96	10547											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(580-582)cTt>cGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							97	87	90					17																	7578268		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578268A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R	p.L194R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.581T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578268	A	C	7578268	3	2	152	1	0	0	0	0	1	0	0	0	16378	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08		7578268	73616942	97	10548											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	11	10	15	5	0	1	1	0	1	1	0	1	3	1	3	0	5	2	5	0	5	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578542G>A	ENST00000269305.4	-	5	577	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TP53_ENST00000445888.2_Missense_Mutation_p.L130F|TP53_ENST00000455263.2_Missense_Mutation_p.L130F|TP53_ENST00000413465.2_Missense_Mutation_p.L130F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L130F|TP53_ENST00000359597.4_Missense_Mutation_p.L130F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTTGTTGAGGGCAGGGGAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(388-390)Ctc>Ttc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							45	46	45					17																	7578542		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578542G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.388C>T	17.37:g.7578542G>A	ENSP00000269305:p.Leu130Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.3_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91F	p.L130F	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	582	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	130		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.388C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900016	0.72754	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99873	-7.38;-7.38;-7.38;-7.38;-7.38;-7.38;-7.38;-7.38	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.91300	3.195	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.988;1.0;0.999;0.96;1.0;1.0;0.999	D	0.96542	0.9401	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130F;ENSP00000352610:L130F;ENSP00000269305:L130F;ENSP00000398846:L130F;ENSP00000391127:L130F;ENSP00000391478:L130F;ENSP00000423862:L37F;ENSP00000424104:L130F	ENSP00000269305:L130F	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578542	G	A	7578542	3	1	152	1	0	0	0	0	1	0	0	0	16378	1000	35	3	910	3	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	274	7578542	73616668	98	10549											
RCVRN	5957	broad.mit.edu	37	chr17	9808118	9808118	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaggggagactgaccAtgacgatctccagcacttca	11	6	14	10	1	2	4	1	2	1	2	3	7	2	4	2	4	1	1	2	4	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:9808118A>G	ENST00000226193.5	-	1	820	c.380T>C	c.(379-381)aTg>aCg	p.M127T		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	127	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GAGACTGACCATGACGATCTC	0.642																																						uc002gme.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.e1+1		Homo sapiens recoverin (RCVRN), mRNA.							120	98	106					17																	9808118		2203	4300	6503	SO:0001630	splice_region_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9808118A>G	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.381+1T>C	17.37:g.9808118A>G							p.M127_splice	NM_002903	NP_002894	P35243	RECO_HUMAN			1	568	-			127			EF-hand 3.		Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.381_splice	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	A	0.470	-0.885097	0.02511	.	.	ENSG00000109047	ENST00000226193	T	0.69806	-0.43	4.86	1.42	0.22433	EF-hand-like domain (1);	0.293324	0.39341	N	0.001394	T	0.28599	0.0708	N	0.00991	-1.07	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04103	-1.0977	10	0.11485	T	0.65	.	6.8217	0.23861	0.6148:0.0:0.3852:0.0	.	127	P35243	RECO_HUMAN	T	127	ENSP00000226193:M127T	ENSP00000226193:M127T	M	-	2	0	RCVRN	9748843	0.006000	0.16342	1.000000	0.80357	0.123000	0.20343	-0.023000	0.12456	0.313000	0.23062	-0.256000	0.11100	ATG		0.642	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	Missense_Mutation	G	9808118	A	G	9808118	5	3	152	1	0	0	0	0	0	0	1	0	13186	231	8	4	234	4	RCVRN	17	9808118	Splice_Site	SNP	A	TCGA-19-1390-01A-01D-1495-08	2229576	9808118	71387092	99	10550											
MYH4	4622	broad.mit.edu	37	chr17	10358321	10358321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcatatggcttgagtgCgcgtgatgagttgagctagc	7	12	14	8	2	1	4	0	4	1	0	1	4	1	4	0	1	4	4	0	1	2	4	rs144778193		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10358321C>T	ENST00000255381.2	-	21	2482	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	791	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R791H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCTTGAGTGCGCGTGATGAG	0.463													C|||	1	0.000199681	0	0	5008	,	,		18143	0.001		0	False		,,,				2504	0					uc002gmn.3																			1	Substitution - Missense(1)	p.R791H(2)|p.T790M(2)	endometrium(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2371-2373)cGc>cAc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							303	136	193					17																	10358321		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358321C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2372G>A	17.37:g.10358321C>T	ENSP00000255381:p.Arg791His					AK097500_uc002gml.1_Intron	p.R791H	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			20	2483	-			791			IQ.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2372G>A	CCDS11154.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.85	1.761064	0.31137	.	.	ENSG00000141048	ENST00000255381	T	0.72051	-0.62	5.04	3.03	0.35002	.	0.000000	0.38272	U	0.001748	T	0.59742	0.2216	L	0.52126	1.63	0.41433	D	0.987876	B	0.12013	0.005	B	0.08055	0.003	T	0.50709	-0.8796	10	0.15066	T	0.55	.	10.3349	0.43844	0.0:0.7863:0.0:0.2137	.	791	Q9Y623	MYH4_HUMAN	H	791	ENSP00000255381:R791H	ENSP00000255381:R791H	R	-	2	0	MYH4	10299046	0.000000	0.05858	0.998000	0.56505	0.954000	0.61252	-0.118000	0.10692	0.631000	0.30412	0.313000	0.20887	CGC		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10358321	C	T	10358321	3	4	152	1	0	0	0	0	1	0	0	0	10037	768	27	1	3527	1	MYH4	17	10358321	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	550203	10358321	70836889	100	10551											
MYH1	4619	broad.mit.edu	37	chr17	10419368	10419368	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcaaccacttgtaggggTtgacagtgacacagaacaag	13	7	12	9	0	0	3	0	2	0	1	0	3	0	3	1	3	2	3	1	3	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10419368T>A	ENST00000226207.5	-	5	474	c.380A>T	c.(379-381)aAc>aTc	p.N127I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	127	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTGTAGGGGTTGACAGTGAC	0.488																																						uc002gmo.3																			0		p.V126I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(379-381)aAc>aTc		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							102	104	103					17																	10419368		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419368T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.380A>T	17.37:g.10419368T>A	ENSP00000226207:p.Asn127Ile					AK097500_uc002gml.1_Intron	p.N127I	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	474	-			127			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.380A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731474	0.89390	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.96745	-4.11	5.81	5.81	0.92471	Myosin head, motor domain (3);	0.000000	0.47093	U	0.000248	D	0.99239	0.9735	H	0.99948	5.02	0.80722	D	1	D	0.64830	0.994	D	0.76575	0.988	D	0.98266	1.0501	10	0.87932	D	0	.	16.158	0.81680	0.0:0.0:0.0:1.0	.	127	P12882	MYH1_HUMAN	I	127	ENSP00000226207:N127I	ENSP00000226207:N127I	N	-	2	0	MYH1	10360093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.030000	0.88816	2.206000	0.71126	0.533000	0.62120	AAC		0.488	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10419368	T	A	10419368	3	1	152	1	0	0	0	0	1	0	0	0	10029	1725	60	5	5583	5	MYH1	17	10419368	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	61047	10419368	70775842	101	10552											
ACCN1	40	broad.mit.edu	37	chr17	31341024	31341024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccagggtcgtctgcaGgggcacgttcacagtgtgac	6	8	15	12	2	2	1	1	1	1	0	4	1	3	1	2	4	1	3	2	4	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:31341024G>T	ENST00000359872.6	-	10	2259	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	ASIC2_ENST00000225823.2_Missense_Mutation_p.L551M	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	500					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GTCGTCTGCAGGGGCACGTTC	0.557																																						uc002hht.3																			0											c.(1651-1653)Ctg>Atg		Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	Amiloride(DB00594)						159	121	134					17																	31341024		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31341024G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1498C>A	17.37:g.31341024G>T	ENSP00000352934:p.Leu500Met					ASIC2_uc002hhu.3_Missense_Mutation_p.L500M	p.L551M	NM_183377	NP_899233	Q16515	ACCN1_HUMAN			9	2524	-			500					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1651C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.978843	0.53720	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	T;T	0.67698	-0.04;-0.28	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000018	T	0.72020	0.3409	L	0.44542	1.39	0.58432	D	0.999992	D;P	0.55605	0.972;0.955	P;P	0.58780	0.845;0.707	T	0.70339	-0.4899	10	0.34782	T	0.22	-26.7821	15.7526	0.77997	0.0:0.0:1.0:0.0	.	500;551	Q16515;E9PBX2	ACCN1_HUMAN;.	M	551;500	ENSP00000225823:L551M;ENSP00000352934:L500M	ENSP00000225823:L551M	L	-	1	2	ACCN1	28365137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.399000	0.59703	2.325000	0.78763	0.561000	0.74099	CTG		0.557	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		T	31341024	G	T	31341024	3	4	152	1	0	0	0	0	1	0	0	0	128	991	35	5	44	5	ACCN1	17	31341024	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	20921656	31341024	49854186	102	10553											
ERBB2	2064	broad.mit.edu	37	chr17	37866667	37866667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacctacaacacagacacGtttgagtccatgcccaatcc	12	8	6	15	1	1	2	1	1	0	1	3	2	3	2	4	0	3	1	4	0	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:37866667G>A	ENST00000269571.5	+	7	993	c.834G>A	c.(832-834)acG>acA	p.T278T	ERBB2_ENST00000578199.1_Silent_p.T248T|ERBB2_ENST00000540042.1_Silent_p.T248T|ERBB2_ENST00000540147.1_Silent_p.T248T|ERBB2_ENST00000541774.1_Silent_p.T263T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000406381.2_Silent_p.T248T|ERBB2_ENST00000584450.1_Silent_p.T278T|ERBB2_ENST00000584601.1_Silent_p.T248T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	278					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACACAGACACGTTTGAGTCCA	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												uc002hso.3		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(832-834)acG>acA		Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						107	88	95					17																	37866667		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866667G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.834G>A	17.37:g.37866667G>A		TCGA GBM(5;<1E-08)				ERBB2_uc010cwa.3_Silent_p.T263T|ERBB2_uc002hsm.3_Silent_p.T248T|ERBB2_uc002hsp.3_Silent_p.T81T|ERBB2_uc010cwb.3_Silent_p.T278T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	p.T278T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	6	1072	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	278					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.834G>A	CCDS32642.1																																																																																				0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			A	37866667	G	A	37866667	2	1	152	1	0	0	0	0	0	0	0	1	5206	1132	40	1		1	ERBB2	17	37866667	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	6525643	37866667	43328543	103	10554											
DNAH17	8632	broad.mit.edu	37	chr17	76457727	76457727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggatcagttggtctgCgctctcattcttctgcttga	5	15	9	12	1	5	1	2	1	4	0	6	2	5	2	1	2	2	3	1	2	0	4	rs557988732		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:76457727C>T	ENST00000585328.1	-	58	9347	c.9223G>A	c.(9223-9225)Gca>Aca	p.A3075T	DNAH17_ENST00000389840.5_Missense_Mutation_p.A3066T|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3066	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTGGTCTGCGCTCTCATTC	0.527																																						uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9238-9240)Gca>Aca		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							85	63	70					17																	76457727		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76457727C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9223G>A	17.37:g.76457727C>T	ENSP00000465516:p.Ala3075Thr					DNAH17_uc002jvs.3_Non-coding_Transcript	p.A3080T	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9363	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9238G>A		.	.	.	.	.	.	.	.	.	.	C	8.351	0.830970	0.16820	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80214	-1.35	4.35	4.35	0.52113	.	0.000000	0.50627	D	0.000119	T	0.69287	0.3094	L	0.43701	1.375	0.20873	N	0.999836	P	0.50443	0.935	B	0.38712	0.28	T	0.65170	-0.6233	10	0.42905	T	0.14	.	8.2512	0.31724	0.0:0.8155:0.0:0.1845	.	3075	E7EUM8	.	T	3075;3066	ENSP00000374490:A3066T	ENSP00000300671:A3075T	A	-	1	0	DNAH17	73969322	0.990000	0.36364	0.781000	0.31783	0.100000	0.18952	2.867000	0.48428	1.960000	0.56953	0.563000	0.77884	GCA		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76457727	C	T	76457727	3	4	152	1	0	0	0	0	1	0	0	0	4601	768	27	1	4246	1	DNAH17	17	76457727	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	38591060	76457727	4737483	104	10555											
DSG3	1830	broad.mit.edu	37	chr18	29046572	29046572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgtccaacagctgtcctCgaaaaagatgcagtttgcag	13	10	9	9	1	0	1	0	0	0	1	3	2	2	1	2	0	4	4	2	0	4	2	rs377026548		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29046572C>T	ENST00000257189.4	+	11	1574	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	497	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTCCTCGAAAAAGATG	0.418																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1489-1491)ctC>ctT		Homo sapiens desmoglein 3 (DSG3), mRNA.		C		0,4406		0,0,2203	157	142	147		1491	-11.5	0	18		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DSG3	NM_001944.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		497/1000	29046572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046572C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1491C>T	18.37:g.29046572C>T							p.L497L	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		10	1600	+			497			Cadherin 4.		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.1491C>T	CCDS11898.1																																																																																				0.418	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29046572	C	T	29046572	2	4	152	1	0	0	0	0	0	0	0	1	4778	871	31	2		2	DSG3	18	29046572	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08		29046572	49030676	105	10556											
DSG3	1830	broad.mit.edu	37	chr18	29055684	29055684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctatgataatgaaggcGcagatgccactggttctcct	10	12	10	9	1	2	4	0	3	2	1	3	4	2	4	2	2	1	2	2	2	3	3	rs148716637		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29055684G>A	ENST00000257189.4	+	16	2544	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	821					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGAAGGCGCAGATGCCAC	0.468													G|||	1	0.000199681	0	0	5008	,	,		18899	0		0	False		,,,				2504	0.001					uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2461-2463)Gca>Aca		Homo sapiens desmoglein 3 (DSG3), mRNA.							127	120	123					18																	29055684		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055684G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2461G>A	18.37:g.29055684G>A	ENSP00000257189:p.Ala821Thr					DSG3_uc002kwt.3_Missense_Mutation_p.A103T	p.A821T	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2570	+			821					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2461G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.389378	0.01185	.	.	ENSG00000134757	ENST00000257189	T	0.76578	-1.03	5.78	-11.6	0.00059	Cadherin, cytoplasmic domain (1);	1.763180	0.03299	N	0.188674	T	0.50000	0.1590	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.46205	-0.9208	10	0.12103	T	0.63	.	12.4931	0.55912	0.5937:0.2664:0.1399:0.0	.	821	P32926	DSG3_HUMAN	T	821	ENSP00000257189:A821T	ENSP00000257189:A821T	A	+	1	0	DSG3	27309682	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.514000	0.02254	-3.158000	0.00228	-0.844000	0.03045	GCA		0.468	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29055684	G	A	29055684	3	1	152	1	0	0	0	0	1	0	0	0	4778	1087	38	1	2523	1	DSG3	18	29055684	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	9112	29055684	49021564	106	10557											
SERPINB12	89777	broad.mit.edu	37	chr18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtgtgaagatgatgaCgcaaaaaggcctctacagaa	17	6	11	7	1	1	6	0	3	1	3	1	6	1	6	1	1	1	1	1	1	6	1	rs200518644	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:61232706C>T	ENST00000269491.1	+	6	674	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SERPINB12_ENST00000382768.1_Missense_Mutation_p.T245M	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488													C|||	2	0.000399361	0	0	5008	,	,		20293	0		0	False		,,,				2504	0.002					uc010xeo.2																			1	Substitution - Missense(1)	p.T225M(1)	lung(1)	kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(733-735)aCg>aTg		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.							146	131	136					18																	61232706		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232706C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.674C>T	18.37:g.61232706C>T	ENSP00000269491:p.Thr225Met					SERPINB12_uc010xen.2_Missense_Mutation_p.T225M	p.T245M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			5	734	+			225					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.734C>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	2.661	-0.279765	0.05642	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82803	-1.65;-1.65	5.35	0.44	0.16572	Serpin domain (3);	1.245950	0.05373	N	0.535732	T	0.69993	0.3173	N	0.21194	0.64	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.0	T	0.54456	-0.8291	10	0.42905	T	0.14	.	3.0124	0.06048	0.5129:0.1228:0.065:0.2993	.	245;225	Q3SYB4;Q96P63	.;SPB12_HUMAN	M	225;245	ENSP00000269491:T225M;ENSP00000372218:T245M	ENSP00000269491:T225M	T	+	2	0	SERPINB12	59383686	0.007000	0.16637	0.031000	0.17742	0.015000	0.08874	0.748000	0.26305	0.131000	0.18576	-0.769000	0.03391	ACG		0.488	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		T	61232706	C	T	61232706	3	4	152	1	0	0	0	0	1	0	0	0	14099	536	19	1	696	1	SERPINB12	18	61232706	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	32177022	61232706	16844542	107	10558											
VMAC	400673	broad.mit.edu	37	chr19	5909016	5909016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgccctggctgaggctGagcgcctggggcccctgccg	3	7	17	14	2	0	2	0	2	0	0	0	3	0	3	5	5	3	2	5	5	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:5909016G>A	ENST00000339485.3	+	2	406	c.373G>A	c.(373-375)Gag>Aag	p.E125K	AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_5'Flank|AC104532.2_ENST00000588891.1_Intron	NM_001017921.3	NP_001017921.1	Q2NL98	VMAC_HUMAN	vimentin-type intermediate filament associated coiled-coil protein	125						cytoplasm (GO:0005737)				lung(1)	1						GGCTGAGGCTGAGCGCCTGGG	0.721																																						uc002mds.4																			0				lung(1)	1						c.(373-375)Gag>Aag		Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.							11	12	12					19																	5909016		2191	4266	6457	SO:0001583	missense	400673					cytoplasm		g.chr19:5909016G>A	BC110802	CCDS32881.1	19p13.3	2012-04-23			ENSG00000187650	ENSG00000187650			33803	protein-coding gene	gene with protein product						14985129	Standard	NM_001017921		Approved		uc002mds.4	Q2NL98		ENST00000339485.3:c.373G>A	19.37:g.5909016G>A	ENSP00000343348:p.Glu125Lys						p.E125K	NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN			1	423	+			125					B3KW55	Missense_Mutation	SNP	ENST00000339485.3	37	c.373G>A	CCDS32881.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900739	0.72754	.	.	ENSG00000187650	ENST00000339485	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.76449	0.3989	M	0.69823	2.125	0.51767	D	0.999935	D	0.76494	0.999	D	0.80764	0.994	T	0.79320	-0.1852	9	0.72032	D	0.01	-22.0411	12.8069	0.57618	0.0:0.0:1.0:0.0	.	125	Q2NL98	VMAC_HUMAN	K	125	.	ENSP00000343348:E125K	E	+	1	0	VMAC	5860016	1.000000	0.71417	0.971000	0.41717	0.322000	0.28314	6.094000	0.71431	2.090000	0.63153	0.561000	0.74099	GAG		0.721	VMAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452220.2	NM_001017921		A	5909016	G	A	5909016	3	1	152	1	0	0	0	0	1	0	0	0	17173	1291	45	3	379	3	VMAC	19	5909016	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		5909016	53219967	108	10559											
LASS4	79603	broad.mit.edu	37	chr19	8316117	8316117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtcctcctggccatgCgccttgcctttgagaggtga	4	11	13	13	2	0	2	0	2	0	1	2	3	2	2	5	3	2	1	5	3	0	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8316117C>T	ENST00000251363.5	+	3	457	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	CERS4_ENST00000595722.1_Intron|CERS4_ENST00000558331.1_Missense_Mutation_p.R2C|CERS4_ENST00000559450.1_Missense_Mutation_p.R53C|CERS4_ENST00000559336.1_Missense_Mutation_p.R53C	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	53					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTGGCCATGCGCCTTGCCTT	0.627																																						uc002mjg.3																			0											c.(157-159)Cgc>Tgc		Homo sapiens ceramide synthase 4 (CERS4), mRNA.							95	97	96					19																	8316117		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8316117C>T		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.157C>T	19.37:g.8316117C>T	ENSP00000251363:p.Arg53Cys					CERS4_uc002mji.3_Intron|CERS4_uc010dvz.3_Missense_Mutation_p.R53C	p.R53C	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			2	477	+			53					D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.157C>T	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327582	0.41197	.	.	ENSG00000090661	ENST00000251363	T	0.75821	-0.97	4.22	3.07	0.35406	.	0.000000	0.64402	D	0.000001	D	0.87740	0.6253	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89297	0.3623	10	0.87932	D	0	-25.8631	9.8945	0.41309	0.2187:0.7813:0.0:0.0	.	53;53	Q53HF9;Q9HA82	.;CERS4_HUMAN	C	53	ENSP00000251363:R53C	ENSP00000251363:R53C	R	+	1	0	CERS4	8222117	0.605000	0.26941	0.130000	0.21974	0.309000	0.27889	1.094000	0.30951	1.917000	0.55516	0.460000	0.39030	CGC		0.627	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		T	8316117	C	T	8316117	3	4	152	1	0	0	0	0	1	0	0	0	8641	768	27	1	159	1	LASS4	19	8316117	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2407101	8316117	50812866	109	10560											
MUC16	94025	broad.mit.edu	37	chr19	8966765	8966765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactctccgagccagtggCgagaagttacacagggagtc	10	8	12	11	2	2	1	0	0	2	1	4	4	2	2	2	2	3	1	2	2	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8966765C>T	ENST00000397910.4	-	81	43391	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_ENST00000380951.5_Silent_p.S1037S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14494				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGTGGCGAGAAGTTAC	0.527																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43186-43188)tcG>tcA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							27	31	29					19																	8966765		1958	4136	6094	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8966765C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43188G>A	19.37:g.8966765C>T						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1196S|MUC16_uc021uog.1_Non-coding_Transcript	p.S14396S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			80	43392	-			14494	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.43188G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.585	-0.530574	0.04112	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.22	-0.708	0.11241	.	1.029670	0.07728	N	0.944810	T	0.27663	0.0680	.	.	.	.	.	.	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	.	4.1107	0.10057	0.0:0.3062:0.1787:0.5151	.	.	.	.	H	1219	.	.	R	-	2	0	MUC16	8827765	0.000000	0.05858	0.017000	0.16124	0.013000	0.08279	-3.159000	0.00578	-0.283000	0.09115	-1.295000	0.01343	CGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8966765	C	T	8966765	2	4	152	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	8966765	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	650648	8966765	50162218	110	10561											
MUC16	94025	broad.mit.edu	37	chr19	9057573	9057573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaggagaacttttttggGtggtgatggtcatttgtgtt	6	16	13	6	0	1	2	1	1	0	1	1	3	1	2	2	4	1	1	2	4	1	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:9057573G>A	ENST00000397910.4	-	3	30076	c.29873C>T	c.(29872-29874)aCc>aTc	p.T9958I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9960	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTTTTTGGGTGGTGATGGT	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29872-29874)aCc>aTc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							256	250	252					19																	9057573		1978	4169	6147	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057573G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29873C>T	19.37:g.9057573G>A	ENSP00000381008:p.Thr9958Ile						p.T9958I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	30077	-			9960			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29873C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.684	0.310700	0.10733	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.5	-4.03	0.04021	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	.	.	.	P	0.46512	0.879	B	0.39660	0.306	T	0.37549	-0.9701	8	0.87932	D	0	.	1.0669	0.01612	0.192:0.3749:0.2412:0.1919	.	9958	B5ME49	.	I	9958	ENSP00000381008:T9958I	ENSP00000381008:T9958I	T	-	2	0	MUC16	8918573	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.577000	0.05847	-0.806000	0.04398	0.460000	0.39030	ACC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9057573	G	A	9057573	3	1	152	1	0	0	0	0	1	0	0	0	9973	1261	44	3	13978	3	MUC16	19	9057573	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	90808	9057573	50071410	111	10562											
ZNF443	10224	broad.mit.edu	37	chr19	12543219	12543219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgggatatctatattGatcttcaatgttctggtctt	7	20	7	7	0	5	1	1	1	4	0	6	2	6	2	1	2	0	1	1	2	4	8			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:12543219G>T	ENST00000301547.5	-	3	360	c.163C>A	c.(163-165)Caa>Aaa	p.Q55K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294																																						uc002mtu.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(163-165)Caa>Aaa		Homo sapiens zinc finger protein 443 (ZNF443), mRNA.							69	77	74					19																	12543219		2201	4292	6493	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12543219G>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.163C>A	19.37:g.12543219G>T	ENSP00000301547:p.Gln55Lys						p.Q55K	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			2	361	-			55			KRAB.			Missense_Mutation	SNP	ENST00000301547.5	37	c.163C>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	6.120	0.390380	0.11581	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00792	5.69	1.13	1.13	0.20643	Krueppel-associated box (3);	.	.	.	.	T	0.00608	0.0020	N	0.21617	0.685	0.20873	N	0.999839	B	0.20671	0.047	B	0.14023	0.01	T	0.46693	-0.9173	9	0.26408	T	0.33	.	3.5149	0.07721	0.2599:0.0:0.74:0.0	.	55	Q9Y2A4	ZN443_HUMAN	K	55	ENSP00000301547:Q55K	ENSP00000301547:Q55K	Q	-	1	0	ZNF443	12404219	0.000000	0.05858	0.084000	0.20598	0.179000	0.23085	-0.854000	0.04299	0.960000	0.38005	0.433000	0.28618	CAA		0.294	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		T	12543219	G	T	12543219	3	4	152	1	0	0	0	0	1	0	0	0	17913	1299	45	5	1860	5	ZNF443	19	12543219	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3485646	12543219	46585764	112	10563											
OR7A17	26333	broad.mit.edu	37	chr19	14991689	14991689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccacaataccattaagCtttgtgacaaggaattcagg	15	9	8	9	0	1	1	1	1	0	0	1	2	1	2	2	2	3	1	2	2	5	4	rs374628001		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:14991689C>A	ENST00000327462.2	-	1	575	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TACCATTAAGCTTTGTGACAA	0.483																																						uc010xob.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(478-480)aGc>aTc		Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.							108	101	104					19																	14991689		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991689C>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.479G>T	19.37:g.14991689C>A	ENSP00000328144:p.Ser160Ile						p.S160I	NM_030901	NP_112163	O14581	OR7AH_HUMAN			0	479	-	Ovarian(108;0.203)		160					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.479G>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	c	9.372	1.070724	0.20147	.	.	ENSG00000185385	ENST00000327462	T	0.00058	8.79	3.37	-0.485	0.12067	GPCR, rhodopsin-like superfamily (1);	0.611647	0.13129	U	0.411585	T	0.00144	0.0004	N	0.21097	0.63	0.09310	N	1	B	0.25850	0.136	B	0.43052	0.406	T	0.06826	-1.0805	10	0.33940	T	0.23	.	7.1905	0.25822	0.0:0.3676:0.5264:0.106	.	160	O14581	OR7AH_HUMAN	I	160	ENSP00000328144:S160I	ENSP00000328144:S160I	S	-	2	0	OR7A17	14852689	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.452000	0.06787	-0.055000	0.13244	-0.662000	0.03851	AGC		0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991689	C	A	14991689	3	1	152	1	0	0	0	0	1	0	0	0	11215	797	28	5	452	5	OR7A17	19	14991689	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2448470	14991689	44137294	113	10564											
ZNF208	7757	broad.mit.edu	37	chr19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttcttatgataactaaGggttgagggccatttatagg	12	15	10	4	0	1	2	0	2	1	0	1	2	1	2	1	3	1	1	1	3	6	9			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:22155210G>T	ENST00000397126.4	-	4	2774	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	876					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L776I(2)|p.L876I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGGC	0.363																																						uc021urr.1																			3	Substitution - Missense(3)	p.L776I(2)|p.L876I(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2626-2628)Ctt>Att		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							44	46	45					19																	22155210		2050	4220	6270	SO:0001583	missense	7757							g.chr19:22155210G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2626C>A	19.37:g.22155210G>T	ENSP00000380315:p.Leu876Ile					ZNF208_uc002nqo.1_Intron	p.L876I	NM_007153	NP_009084					3	2775	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2626C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979957	0.18812	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.53857	0.6	2.58	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64832	0.2634	.	.	.	0.09310	N	1	P	0.46395	0.877	D	0.66716	0.946	T	0.52990	-0.8501	8	0.87932	D	0	.	4.9109	0.13821	0.3232:0.0:0.6768:0.0	.	776	O43345	ZN208_HUMAN	I	876;776	ENSP00000380315:L876I	ENSP00000380315:L876I	L	-	1	0	ZNF208	21947050	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.375000	0.07475	0.115000	0.18071	0.289000	0.19496	CTT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22155210	G	T	22155210	3	4	152	1	0	0	0	0	1	0	0	0	17763	1000	35	5	1220	5	ZNF208	19	22155210	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	7163521	22155210	36973773	114	10565											
MAG	4099	broad.mit.edu	37	chr19	35801000	35801000	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccaggccccgccccgCgtcatctgcaccgcgaggaa	7	3	12	19	5	2	0	1	0	1	0	2	2	2	1	6	3	1	1	6	3	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:35801000C>T	ENST00000392213.3	+	8	1614	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_ENST00000537831.2_Silent_p.R460R|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Silent_p.R485R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	485	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1453-1455)cgC>cgT		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							34	34	34					19																	35801000		2202	4296	6498	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35801000C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1455C>T	19.37:g.35801000C>T						MAG_uc002nyx.2_Silent_p.R485R|MAG_uc010eds.2_Silent_p.R460R|MAG_uc002nyz.2_Silent_p.R485R	p.R485R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1653	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	485			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1455C>T	CCDS12455.1																																																																																				0.697	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35801000	C	T	35801000	2	4	152	1	0	0	0	0	0	0	0	1	9162	755	27	1		1	MAG	19	35801000	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	13645790	35801000	23327983	115	10566											
CGB7	94027	broad.mit.edu	37	chr19	49557640	49557640	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggaagaggaggcctGgaagcgggggtcatcacagg	10	6	18	7	1	2	2	2	1	0	1	2	5	2	5	1	7	1	0	1	7	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:49557640G>A	ENST00000597853.1	-	5	3277	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CGB7_ENST00000377280.3_Nonsense_Mutation_p.Q136*|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000356213.4_Nonsense_Mutation_p.Q134*|CGB7_ENST00000596965.1_Nonsense_Mutation_p.Q136*			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	136					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGGAGGCCTGGAAGCGGGGG	0.647																																						uc002pmd.3																			0				pancreas(1)	1						c.(406-408)Cag>Tag		Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	Choriogonadotropin alfa(DB00097)						17	17	17					19																	49557640		1498	2655	4153	SO:0001587	stop_gained	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49557640G>A	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.406C>T	19.37:g.49557640G>A	ENSP00000470813:p.Gln136*					CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Nonsense_Mutation_p.Q136*	p.Q136*	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	1626	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	136					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Nonsense_Mutation	SNP	ENST00000597853.1	37	c.406C>T	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	g	13.47	2.245733	0.39697	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	.	.	.	1.3	1.3	0.21679	.	1.113020	0.06697	N	0.770711	.	.	.	.	.	.	0.42246	D	0.991959	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.5788	5.9853	0.19430	0.0:0.0:1.0:0.0	.	.	.	.	X	136;134	.	ENSP00000348545:Q134X	Q	-	1	0	CGB7	54249452	1.000000	0.71417	0.028000	0.17463	0.014000	0.08584	2.177000	0.42509	1.021000	0.39600	0.197000	0.17608	CAG		0.647	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		A	49557640	G	A	49557640	4	1	152	1	0	0	0	0	0	1	0	0	3300	1357	47	3	95	3	CGB7	19	49557640	Nonsense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13756640	49557640	9571343	116	10567											
ZNF28	7576	broad.mit.edu	37	chr19	53304049	53304049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtaaggtttctctccaGtgtgaattatagtatgtttt	9	19	8	5	0	1	1	0	1	1	0	3	1	2	1	1	1	0	4	1	1	5	8			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:53304049G>T	ENST00000457749.2	-	4	1168	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N	ZNF28_ENST00000414252.2_Missense_Mutation_p.T297N|ZNF28_ENST00000438150.2_Missense_Mutation_p.T297N|ZNF28_ENST00000360272.4_Missense_Mutation_p.T297N	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCAGTGTGAATTAT	0.373																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1048-1050)aCt>aAt		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							93	96	95					19																	53304049		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304049G>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1049C>A	19.37:g.53304049G>T	ENSP00000397693:p.Thr350Asn					ZNF28_uc002qac.3_Missense_Mutation_p.T296N|ZNF28_uc010eqe.3_Missense_Mutation_p.T296N|ZNF28_uc021uza.1_Missense_Mutation_p.T297N	p.T350N	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	1206	-			350					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1049C>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.97	1.500315	0.26861	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	1.74	0.511	0.16989	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41719	0.1171	L	0.53671	1.685	0.21984	N	0.999436	P	0.46142	0.873	D	0.67382	0.951	T	0.24225	-1.0166	9	0.72032	D	0.01	.	8.6557	0.34062	0.0:0.2394:0.7606:0.0	.	350	P17035	ZNF28_HUMAN	N	297;350;297;297;297	ENSP00000412143:T297N;ENSP00000397693:T350N;ENSP00000353410:T297N;ENSP00000444965:T297N;ENSP00000375661:T297N	ENSP00000353410:T297N	T	-	2	0	ZNF28	57995861	0.856000	0.29760	0.600000	0.28864	0.161000	0.22273	1.369000	0.34227	0.042000	0.15717	0.186000	0.17326	ACT		0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53304049	G	T	53304049	3	4	152	1	0	0	0	0	1	0	0	0	17810	1029	36	5	1111	5	ZNF28	19	53304049	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3746409	53304049	5824934	117	10568											
NLRP7	199713	broad.mit.edu	37	chr19	55451268	55451268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggagctggaggtcccTcagtgccctgggccgcgtgg	4	6	17	14	3	1	0	1	0	0	0	2	2	2	2	4	5	2	1	4	5	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:55451268T>C	ENST00000590030.1	-	3	959	c.919A>G	c.(919-921)Agg>Ggg	p.R307G	NLRP7_ENST00000446217.1_Missense_Mutation_p.R335G|NLRP7_ENST00000592784.1_Missense_Mutation_p.R307G|NLRP7_ENST00000588756.1_Missense_Mutation_p.R307G|NLRP7_ENST00000448121.2_Missense_Mutation_p.R307G|NLRP7_ENST00000340844.2_Missense_Mutation_p.R307G|NLRP7_ENST00000328092.5_Missense_Mutation_p.R307G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	307	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGGTCCCTCAGTGCCCTG	0.617																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(919-921)Agg>Ggg		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							40	40	40					19																	55451268		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451268T>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.919A>G	19.37:g.55451268T>C	ENSP00000465520:p.Arg307Gly					NLRP7_uc010esk.3_Missense_Mutation_p.R307G|NLRP7_uc002qig.4_Missense_Mutation_p.R307G|NLRP7_uc002qii.4_Missense_Mutation_p.R307G|NLRP7_uc010esl.3_Missense_Mutation_p.R335G	p.R307G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	995	-			307			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.919A>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	7.616	0.675910	0.14841	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	1.77	0.67	0.17923	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.71151	0.3306	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.32203	0.36;0.235;0.36;0.311	B;B;B;B	0.35770	0.21;0.21;0.21;0.134	T	0.60469	-0.7257	9	0.48119	T	0.1	.	5.9289	0.19128	0.0:0.0:0.2686:0.7314	.	335;307;307;307	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	307;307;307;335	ENSP00000329568:R307G;ENSP00000409137:R307G;ENSP00000339491:R307G;ENSP00000414273:R335G	ENSP00000329568:R307G	R	-	1	2	NLRP7	60143080	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.610000	0.05629	0.124000	0.18369	0.379000	0.24179	AGG		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		C	55451268	T	C	55451268	3	2	152	1	0	0	0	0	1	0	0	0	10482	1550	54	4	2226	4	NLRP7	19	55451268	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	2147219	55451268	3677715	118	10569											
NLRP5	126206	broad.mit.edu	37	chr19	56549462	56549462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacgacctcccccagccTgaaatctctgagcctggcag	8	8	8	17	1	1	2	0	2	1	0	3	3	2	2	6	1	3	1	6	1	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:56549462T>C	ENST00000390649.3	+	10	2687	c.2687T>C	c.(2686-2688)cTg>cCg	p.L896P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	896					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCCCAGCCTGAAATCTCTG	0.547																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2686-2688)cTg>cCg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							103	105	104					19																	56549462		2044	4197	6241	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56549462T>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2687T>C	19.37:g.56549462T>C	ENSP00000375063:p.Leu896Pro					NLRP5_uc002qmi.3_Missense_Mutation_p.L877P	p.L896P	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	9	2687	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	896					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2687T>C	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586262	0.28268	.	.	ENSG00000171487	ENST00000390649	T	0.75477	-0.94	3.66	3.66	0.41972	.	0.000000	0.27473	N	0.019219	D	0.89577	0.6755	H	0.97587	4.035	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	D	0.90847	0.4728	10	0.87932	D	0	.	9.2313	0.37439	0.0:0.0:0.0:1.0	.	896	P59047	NALP5_HUMAN	P	896	ENSP00000375063:L896P	ENSP00000375063:L896P	L	+	2	0	NLRP5	61241274	0.312000	0.24545	0.839000	0.33178	0.040000	0.13550	3.841000	0.55850	1.603000	0.50134	0.533000	0.62120	CTG		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		C	56549462	T	C	56549462	3	2	152	1	0	0	0	0	1	0	0	0	10480	1580	55	4	2725	4	NLRP5	19	56549462	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	1098194	56549462	2579521	119	10570											
BPIL3	128859	broad.mit.edu	37	chr20	31630672	31630672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctcgaagaagcctacatcCcagttgtcaatggtgagggt	11	10	11	9	1	2	2	1	1	1	1	4	3	3	2	2	2	2	1	2	2	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:31630672C>A	ENST00000349552.1	+	13	1240	c.1240C>A	c.(1240-1242)Cca>Aca	p.P414T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	414						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCCTACATCCCAGTTGTCAA	0.473																																						uc010zuc.2																			0											c.(1240-1242)Cca>Aca		Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.							123	104	111					20																	31630672		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31630672C>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1240C>A	20.37:g.31630672C>A	ENSP00000344929:p.Pro414Thr					BPIFB6_uc010zud.2_Missense_Mutation_p.P353T	p.P414T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			12	1240	+			414						Missense_Mutation	SNP	ENST00000349552.1	37	c.1240C>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562594	0.45694	.	.	ENSG00000167104	ENST00000349552	T	0.25579	1.79	4.77	4.77	0.60923	.	0.000000	0.53938	D	0.000059	T	0.49150	0.1540	M	0.72894	2.215	0.32761	N	0.505146	D	0.89917	1.0	D	0.85130	0.997	T	0.62234	-0.6897	10	0.87932	D	0	-18.8469	13.1611	0.59544	0.0:1.0:0.0:0.0	.	414	Q8NFQ5	BPIB6_HUMAN	T	414	ENSP00000344929:P414T	ENSP00000344929:P414T	P	+	1	0	BPIFB6	31094333	0.672000	0.27530	0.511000	0.27724	0.461000	0.32589	3.212000	0.51145	2.479000	0.83701	0.561000	0.74099	CCA		0.473	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		A	31630672	C	A	31630672	3	1	152	1	0	0	0	0	1	0	0	0	1493	623	22	5	1290	5	BPIL3	20	31630672	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		31630672	31394848	120	10571											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232172	32232172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactgctggaactgtggccGcaaagccagcgagacatgca	12	5	13	11	2	0	1	0	0	0	1	0	4	0	2	2	2	6	3	2	2	3	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:32232172G>A	ENST00000346541.3	+	12	2072	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R503H|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R60H|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R483H|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R522H|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R483H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R512H	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	512					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACTGTGGCCGCAAAGCCAGC	0.572																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1534-1536)cGc>cAc		Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.							71	67	68					20																	32232172		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232172G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1535G>A	20.37:g.32232172G>A	ENSP00000262653:p.Arg512His					CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H	p.R512H	NM_005093	NP_001034798	O43439	MTG8R_HUMAN			11	2072	+			512					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1535G>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638831	0.96693	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.55234	0.53;0.54;0.53;0.55;1.13	5.79	5.79	0.91817	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77197	-0.2676	10	0.87932	D	0	-3.8816	20.0222	0.97508	0.0:0.0:1.0:0.0	.	512;503	O43439;F8W6D7	MTG8R_HUMAN;.	H	286;512;503;512;483;522;60	ENSP00000364428:R512H;ENSP00000345810:R503H;ENSP00000262653:R512H;ENSP00000380902:R483H;ENSP00000352622:R522H	ENSP00000345810:R503H	R	+	2	0	CBFA2T2	31695833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.726000	0.93360	0.655000	0.94253	CGC		0.572	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		A	32232172	G	A	32232172	3	1	152	1	0	0	0	0	1	0	0	0	2697	1087	38	1	1615	1	CBFA2T2	20	32232172	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	601500	32232172	30793348	121	10572											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	8	7	11	15	4	0	1	0	1	0	0	2	3	1	1	4	1	3	1	4	1	2	2	rs141167641	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0	0	5008	,	,		19301	0		0.001	False		,,,				2504	0.0031					uc002xwo.3																			1	Substitution - Missense(1)	p.A222T(2)|p.A222V(1)	ovary(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(664-666)Gcg>Acg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							57	52	53					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr					TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	p.A222T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51870661	G	A	51870661	3	1	152	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	19638489	51870661	11154859	122	10573											
GRIK1	2897	broad.mit.edu	37	chr21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgggggattccattctctCtactgtcaagaaggcagcca	10	11	10	10	0	3	1	1	0	2	1	5	2	4	2	2	3	2	1	2	3	4	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:30949385C>G	ENST00000399907.1	-	14	2440	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	GRIK1_ENST00000389125.3_Missense_Mutation_p.E662Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E679Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.E662Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E679Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E677Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E677Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E677Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E662Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	677					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448																																						uc002yno.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2029-2031)Gag>Cag		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						120	114	116					21																	30949385		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30949385C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2029G>C	21.37:g.30949385C>G	ENSP00000382791:p.Glu677Gln					GRIK1_uc002ynn.3_Missense_Mutation_p.E662Q|GRIK1_uc011acs.2_Missense_Mutation_p.E677Q|GRIK1_uc011act.2_Missense_Mutation_p.E538Q	p.E677Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN			13	2493	-			677					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2029G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970850	0.92919	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.3	5.3	0.74995	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.72576	2.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.72384	-0.4310	10	0.49607	T	0.09	.	18.7417	0.91775	0.0:1.0:0.0:0.0	.	662;677;677;662	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	677;662;677;662;679;538;677;677;662;679	ENSP00000327687:E677Q;ENSP00000373777:E662Q;ENSP00000382797:E677Q;ENSP00000382798:E662Q;ENSP00000446326:E679Q;ENSP00000373776:E677Q;ENSP00000382791:E677Q;ENSP00000382793:E662Q;ENSP00000311646:E679Q	ENSP00000311646:E679Q	E	-	1	0	GRIK1	29871256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.595000	0.82710	2.765000	0.95021	0.650000	0.86243	GAG		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			G	30949385	C	G	30949385	3	3	152	1	0	0	0	0	1	0	0	0	6773	922	32	5	903	5	GRIK1	21	30949385	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		30949385	17180510	123	10574											
C21orf29	54084	broad.mit.edu	37	chr21	45949800	45949800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagccttggggtggcgTctgagcccggcagcaggacc	7	5	16	13	2	1	1	0	1	1	0	1	3	1	2	3	5	3	2	3	5	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:45949800T>C	ENST00000323084.4	-	5	736	c.671A>G	c.(670-672)gAc>gGc	p.D224G	TSPEAR_ENST00000397916.1_Missense_Mutation_p.D156G	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	224	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGGGTGGCGTCTGAGCCCGG	0.677																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(670-672)gAc>gGc		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.							32	37	35					21																	45949800		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949800T>C	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.671A>G	21.37:g.45949800T>C	ENSP00000321987:p.Asp224Gly					TSPEAR_uc010gpv.1_Missense_Mutation_p.D156G	p.D224G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			4	737	-			224						Missense_Mutation	SNP	ENST00000323084.4	37	c.671A>G	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380456	0.82792	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.48522	0.81;0.81	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.72214	-0.4358	10	0.56958	D	0.05	-8.2288	14.8794	0.70519	0.0:0.0:0.0:1.0	.	224	Q8WU66	TSEAR_HUMAN	G	224;156;224	ENSP00000321987:D224G;ENSP00000381012:D156G	ENSP00000321987:D224G	D	-	2	0	TSPEAR	44774228	1.000000	0.71417	0.970000	0.41538	0.749000	0.42624	6.927000	0.75840	1.928000	0.55862	0.402000	0.26972	GAC		0.677	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		C	45949800	T	C	45949800	3	2	152	1	0	0	0	0	1	0	0	0	2124	1667	58	4	1370	4	C21orf29	21	45949800	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	15000415	45949800	2180095	124	10575											
ACE2	59272	broad.mit.edu	37	chrX	15582159	15582159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacttacttcttccgatctCtgatcccagtgaagatcagg	9	12	7	13	1	3	3	1	2	2	1	6	4	5	3	3	1	1	0	3	1	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:15582159C>T	ENST00000252519.3	-	17	2399	c.2297G>A	c.(2296-2298)aGa>aAa	p.R766K	ACE2_ENST00000427411.1_Missense_Mutation_p.R766K|ACE2_ENST00000471548.1_5'UTR			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	766					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CTTCCGATCTCTGATCCCAGT	0.413																																						uc004cxa.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(2296-2298)aGa>aAa		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	Moexipril(DB00691)						192	184	187					X																	15582159		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15582159C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2297G>A	X.37:g.15582159C>T	ENSP00000252519:p.Arg766Lys					ACE2_uc004cxb.2_Missense_Mutation_p.R766K	p.R766K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			16	2465	-	Hepatocellular(33;0.183)		766					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.2297G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	7.157	0.584836	0.13749	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.85088	-1.94;-1.94	6.16	3.09	0.35607	.	0.235742	0.43260	N	0.000600	T	0.79799	0.4508	L	0.56396	1.775	0.20563	N	0.999881	B	0.18461	0.028	B	0.19148	0.024	T	0.65175	-0.6232	10	0.32370	T	0.25	-10.8075	7.8886	0.29665	0.0:0.6147:0.0:0.3853	.	766	Q9BYF1	ACE2_HUMAN	K	766	ENSP00000252519:R766K;ENSP00000389326:R766K	ENSP00000252519:R766K	R	-	2	0	ACE2	15492080	0.959000	0.32827	0.081000	0.20488	0.178000	0.23041	0.201000	0.17276	0.160000	0.19432	0.594000	0.82650	AGA		0.413	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			T	15582159	C	T	15582159	3	4	152	1	0	0	0	0	1	0	0	0	137	913	32	3	128	3	ACE2	23	15582159	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		15582159	139688401	125	10576											
KLHL34	257240	broad.mit.edu	37	chrX	21674007	21674007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctagcgcctctccaacctCtccctccctctcgtcgtccc	4	11	4	22	3	4	0	0	0	4	0	10	0	6	0	6	0	2	0	6	0	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:21674007C>T	ENST00000379499.2	-	1	2441	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	634						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TCTCCAACCTCTCCCTCCCTC	0.637																																						uc004czz.1																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1900-1902)Gag>Aag		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							71	35	47					X																	21674007		2203	4300	6503	SO:0001583	missense	257240							g.chrX:21674007C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1900G>A	X.37:g.21674007C>T	ENSP00000368813:p.Glu634Lys					JA611288_uc022btu.1_5'Flank	p.E634K	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	2442	-			634						Missense_Mutation	SNP	ENST00000379499.2	37	c.1900G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	4.565	0.105013	0.08731	.	.	ENSG00000185915	ENST00000379499	T	0.73789	-0.78	5.88	3.86	0.44501	.	0.750094	0.11334	N	0.574716	T	0.50480	0.1618	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	10	0.27785	T	0.31	.	4.9895	0.14207	0.0:0.6683:0.2127:0.119	.	634	Q8N239	KLH34_HUMAN	K	634	ENSP00000368813:E634K	ENSP00000368813:E634K	E	-	1	0	KLHL34	21583928	0.002000	0.14202	0.022000	0.16811	0.038000	0.13279	1.400000	0.34577	2.471000	0.83476	0.600000	0.82982	GAG		0.637	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		T	21674007	C	T	21674007	3	4	152	1	0	0	0	0	1	0	0	0	8387	922	32	3	38	3	KLHL34	23	21674007	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	6091848	21674007	133596553	126	10577											
BCOR	54880	broad.mit.edu	37	chrX	39932304	39932304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagtttccaaaatctcGgaaaaccgattccggagggt	11	10	10	10	3	1	0	0	0	1	0	4	3	3	2	3	3	2	2	3	3	5	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:39932304G>A	ENST00000378444.4	-	4	2523	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_ENST00000378455.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S|BCOR_ENST00000342274.4_Silent_p.S765S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	765					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2293-2295)tcC>tcT		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							137	131	133					X																	39932304		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932304G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2295C>T	X.37:g.39932304G>A						BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S	p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	2587	-			765					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.2295C>T	CCDS48093.1																																																																																				0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39932304	G	A	39932304	2	1	152	1	0	0	0	0	0	0	0	1	1386	1103	39	2		2	BCOR	23	39932304	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	18258297	39932304	115338256	127	10578											
BMP15	9210	broad.mit.edu	37	chrX	50653945	50653945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagaagaatcccctggCgaacagccaaggaagccccg	12	4	11	14	2	0	2	0	0	0	2	1	4	1	3	5	2	4	1	5	2	6	1	rs149633402		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:50653945C>T	ENST00000252677.3	+	1	162	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	54					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCCCCTGGCGAACAGCCAA	0.592													c|||	1	0.000264901	0	0	3775	,	,		13013	0		0.001	False		,,,				2504	0					uc011mnw.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(160-162)ggC>ggT		Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.		C		1,3829		0,0,1,1632,565	30	27	28		162	-2	0	X	dbSNP_134	28	2,6722		0,2,0,2426,1868	no	coding-synonymous	BMP15	NM_005448.2		0,2,1,4058,2433	TT,TC,T,CC,C		0.0297,0.0261,0.0284		54/393	50653945	3,10551	2198	4296	6494	SO:0001819	synonymous_variant	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50653945C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.162C>T	X.37:g.50653945C>T							p.G54G	NM_005448	NP_005439	O95972	BMP15_HUMAN			0	211	+	Ovarian(276;0.236)		54					Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	37	c.162C>T	CCDS14334.1																																																																																				0.592	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50653945	C	T	50653945	2	4	152	1	0	0	0	0	0	0	0	1	1458	755	27	1		1	BMP15	23	50653945	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	10721641	50653945	104616615	128	10579											
KDM5C	8242	broad.mit.edu	37	chrX	53230914	53230914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgctcaatgcactggcGcccagcaggcaactgtgggc	8	7	14	12	1	1	0	1	0	0	0	1	0	1	0	1	3	4	5	1	3	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:53230914G>A	ENST00000375401.3	-	14	2411	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	KDM5C_ENST00000404049.3_Missense_Mutation_p.R626C|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000452825.3_Missense_Mutation_p.R560C|KDM5C_ENST00000375383.3_Missense_Mutation_p.R586C|KDM5C_ENST00000375379.3_Missense_Mutation_p.R627C	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	627	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGCACTGGCGCCCAGCAGGC	0.587			"N, F, S"		clear cell renal carcinoma																																	uc004drz.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1879-1881)Cgc>Tgc		Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.							46	41	43					X																	53230914		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53230914G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1879C>T	X.37:g.53230914G>A	ENSP00000364550:p.Arg627Cys					KDM5C_uc022bxe.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.3_Missense_Mutation_p.R626C	p.R627C	NM_004187	NP_004178	P41229	KDM5C_HUMAN			13	2412	-			627			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1879C>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568898	0.86439	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.82	5.82	0.92795	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	H	0.94462	3.54	0.80722	D	1	D;D;D	0.65815	0.995;0.991;0.995	P;P;P	0.56700	0.804;0.641;0.77	D	0.88545	0.3112	10	0.87932	D	0	-8.7683	11.3766	0.49733	0.0:0.0:0.8195:0.1805	.	560;626;627	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	C	560;627;626;627;586	ENSP00000445176:R560C;ENSP00000364550:R627C;ENSP00000385394:R626C;ENSP00000364528:R627C;ENSP00000364532:R586C	ENSP00000364528:R627C	R	-	1	0	KDM5C	53247639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.648000	0.67930	2.444000	0.82710	0.600000	0.82982	CGC		0.587	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53230914	G	A	53230914	3	1	152	1	0	0	0	0	1	0	0	0	8135	1087	38	1	2953	1	KDM5C	23	53230914	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	2576969	53230914	102039646	129	10580											
FAM123B	139285	broad.mit.edu	37	chrX	63412206	63412206	+	Frame_Shift_Del	DEL	T	T	-																															acctgtcaatgaatcaaagcTtttcagggatgtcacatccc																										TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:63412206delT	ENST00000330258.3	-	2	1233	c.961delA	c.(961-963)agcfs	p.S321fs	AMER1_ENST00000403336.1_Frame_Shift_Del_p.S321fs|AMER1_ENST00000374869.3_Frame_Shift_Del_p.S321fs	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	321					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GAATCAAAGCTTTTCAGGGAT	0.522																																						uc022byb.1																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						c.(961-963)agcfs		Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.							138	119	125					X																	63412206		2203	4300	6503	SO:0001589	frameshift_variant	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412206delT	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.961delA	X.37:g.63412206delT	ENSP00000329117:p.Ser321fs					FAM123B_uc004dvo.3_Frame_Shift_Del_p.S321fs	p.S321fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			0	961	-			321					A2IB86|Q8N885	Frame_Shift_Del	DEL	ENST00000330258.3	37	c.961delA	CCDS14377.2																																																																																				0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		-	63412206	T	-	63412206	7	5	152	1	0	1	0	1	0	0	0	0	5423	1609	56	0	2450	0	FAM123B	23	63412206	Frame_Shift_Del	DEL	T	TCGA-19-1390-01A-01D-1495-08	10181292	63412206	91858354	130	10581											
YIPF6	286451	broad.mit.edu	37	chrX	67731798	67731798	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagctccacattaaaTgaatctgttcgcaataccat	13	13	5	10	1	1	2	0	2	1	0	3	2	2	2	2	0	2	3	2	0	5	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:67731798T>A	ENST00000462683.1	+	2	909	c.165T>A	c.(163-165)aaT>aaA	p.N55K	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	55					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCACATTAAATGAATCTGTTC	0.393																																						uc004dwz.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(163-165)aaT>aaA		Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.							142	123	129					X																	67731798		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731798T>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.165T>A	X.37:g.67731798T>A	ENSP00000417573:p.Asn55Lys					YIPF6_uc011mph.2_Intron	p.N55K	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			1	450	+			55					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.165T>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064932	0.55432	.	.	ENSG00000181704	ENST00000462683	T	0.44482	0.92	5.66	1.99	0.26369	.	0.143111	0.64402	D	0.000009	T	0.30417	0.0764	L	0.36672	1.1	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.09952	-1.0651	10	0.87932	D	0	2.3794	7.4814	0.27406	0.0:0.2631:0.0:0.7369	.	55	Q96EC8	YIPF6_HUMAN	K	55	ENSP00000417573:N55K	ENSP00000417573:N55K	N	+	3	2	YIPF6	67648523	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	1.116000	0.31221	0.279000	0.22186	-0.469000	0.05056	AAT		0.393	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		A	67731798	T	A	67731798	3	1	152	1	0	0	0	0	1	0	0	0	17479	1461	51	5	171	5	YIPF6	23	67731798	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	4319592	67731798	87538762	131	10582											
PCDH11X	27328	broad.mit.edu	37	chrX	91133162	91133162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaagaatcttacactttCtatgtaaaggctgaggatgg	15	11	9	6	0	2	2	0	1	2	1	2	3	2	3	0	3	2	2	0	3	7	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:91133162C>A	ENST00000373094.1	+	2	2768	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.F641L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F641L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F641L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F641L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTACACTTTCTATGTAAAGG	0.363																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1921-1923)ttC>ttA		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							41	37	38					X																	91133162		2200	4278	6478	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133162C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1923C>A	X.37:g.91133162C>A	ENSP00000362186:p.Phe641Leu					PCDH11X_uc004efl.2_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F641L|PCDH11X_uc004efm.2_Missense_Mutation_p.F641L|PCDH11X_uc004efn.2_Missense_Mutation_p.F641L|PCDH11X_uc004efo.2_Missense_Mutation_p.F641L|PCDH11X_uc004efh.2_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	p.F641L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2768	+			641			Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1923C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612878	0.28712	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.35	2.64	0.31445	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	N	0.04508	-0.205	0.41598	D	0.988839	D;B;D;D;D;D;D;D	0.76494	0.999;0.033;0.999;0.999;0.999;0.999;0.999;0.999	D;B;D;D;D;D;D;D	0.91635	0.998;0.108;0.995;0.998;0.998;0.999;0.995;0.995	T	0.12400	-1.0549	10	0.44086	T	0.13	.	8.4985	0.33144	0.0:0.5922:0.0:0.4078	.	641;641;641;641;641;641;641;641	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	641	ENSP00000378746:F641L;ENSP00000362186:F641L;ENSP00000362189:F641L;ENSP00000355040:F641L;ENSP00000362180:F641L;ENSP00000423762:F641L;ENSP00000355105:F641L;ENSP00000384758:F641L;ENSP00000298274:F641L	ENSP00000298274:F641L	F	+	3	2	PCDH11X	91019818	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.715000	0.25822	0.123000	0.18342	0.415000	0.27848	TTC		0.363	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91133162	C	A	91133162	3	1	152	1	0	0	0	0	1	0	0	0	11508	912	32	5	1929	5	PCDH11X	23	91133162	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	23401364	91133162	64137398	132	10583											
OCRL	4952	broad.mit.edu	37	chrX	128721074	128721074	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcttctagtagatcacctAttcaaatacgcctgtcacca	11	12	6	12	1	4	1	3	0	1	1	4	1	4	1	3	1	1	2	3	1	5	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:128721074A>G	ENST00000371113.4	+	20	2400	c.2235A>G	c.(2233-2235)ctA>ctG	p.L745L	OCRL_ENST00000357121.5_Silent_p.L737L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	745	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TAGATCACCTATTCAAATACG	0.458																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2233-2235)ctA>ctG		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							145	132	137					X																	128721074		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128721074A>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2235A>G	X.37:g.128721074A>G						OCRL_uc004eur.3_Silent_p.L737L|OCRL_uc010nrb.3_5'Flank	p.L745L	NM_000276	NP_000267	Q01968	OCRL_HUMAN			19	2400	+			745			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2235A>G	CCDS35393.1																																																																																				0.458	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		G	128721074	A	G	128721074	2	3	152	1	0	0	0	0	0	0	0	1	10823	436	16	4		4	OCRL	23	128721074	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	37587912	128721074	26549486	133	10584											
HTATSF1	27336	broad.mit.edu	37	chrX	135593609	135593609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaatttgaagaaaatGgtctcgagaaagatttggac	18	9	11	3	1	1	5	0	1	1	4	2	8	1	6	0	2	0	0	0	2	6	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:135593609G>T	ENST00000218364.4	+	9	1879	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G569C	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	569	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGAAGAAAATGGTCTCGAGAA	0.393																																						uc004ezw.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1705-1707)Ggt>Tgt		Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.							49	53	52					X																	135593609		2203	4297	6500	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593609G>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1705G>T	X.37:g.135593609G>T	ENSP00000218364:p.Gly569Cys					HTATSF1_uc004ezx.3_Missense_Mutation_p.G569C	p.G569C	NM_001163280	NP_055315	O43719	HTSF1_HUMAN			9	2127	+	Acute lymphoblastic leukemia(192;0.000127)		569			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1705G>T	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163717	0.38217	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04454	3.62;3.62	4.51	1.73	0.24493	.	0.268702	0.27096	N	0.020947	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.25048	0.117	B	0.17722	0.019	T	0.40553	-0.9557	10	0.87932	D	0	-6.2425	4.7513	0.13063	0.1998:0.0:0.6258:0.1744	.	569	O43719	HTSF1_HUMAN	C	569	ENSP00000442699:G569C;ENSP00000218364:G569C	ENSP00000218364:G569C	G	+	1	0	HTATSF1	135421275	0.036000	0.19791	0.006000	0.13384	0.941000	0.58515	1.020000	0.30027	0.231000	0.21079	0.429000	0.28392	GGT		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		T	135593609	G	T	135593609	3	4	152	1	0	0	0	0	1	0	0	0	7433	1348	47	5	1739	5	HTATSF1	23	135593609	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	6872535	135593609	19676951	134	10585											
SOX3	6658	broad.mit.edu	37	chrX	139586804	139586804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaggcgttcatgggcCgtttcacacggtcctggtct	6	11	12	12	3	3	1	2	1	1	0	4	1	4	1	3	4	0	2	3	4	1	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:139586804C>T	ENST00000370536.2	-	1	421	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	141					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GTTCATGGGCCGTTTCACACG	0.652																																						uc004fbd.1																			0		p.R141R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(421-423)cGg>cAg		Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.							36	36	36					X																	139586804		2203	4300	6503	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586804C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.422G>A	X.37:g.139586804C>T	ENSP00000359567:p.Arg141Gln						p.R141Q	NM_005634	NP_005625	P41225	SOX3_HUMAN			0	422	-	Acute lymphoblastic leukemia(192;7.65e-05)		141					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.422G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.526301	0.64860	.	.	ENSG00000134595	ENST00000370536	D	0.99298	-5.71	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.99548	0.9838	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97971	1.0343	9	.	.	.	.	14.7169	0.69275	0.0:1.0:0.0:0.0	.	141	P41225	SOX3_HUMAN	Q	141	ENSP00000359567:R141Q	.	R	-	2	0	SOX3	139414470	1.000000	0.71417	0.611000	0.29010	0.159000	0.22180	7.231000	0.78106	1.638000	0.50547	0.525000	0.51046	CGG		0.652	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			T	139586804	C	T	139586804	3	4	152	1	0	0	0	0	1	0	0	0	14951	652	23	2	922	2	SOX3	23	139586804	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	3993195	139586804	15683756	135	10586											
MTM1	4534	broad.mit.edu	37	chrX	149839946	149839946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggagctcttagccttaCgcgacgaatacataaagcgg	13	8	10	10	4	1	0	0	0	1	0	1	3	1	1	1	2	5	1	1	2	6	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:149839946C>T	ENST00000370396.2	+	15	1744	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R449C|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.R527C	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	564					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGCCTTACGCGACGAATA	0.517																																						uc004fef.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1690-1692)Cgc>Tgc		Homo sapiens myotubularin 1 (MTM1), mRNA.							119	93	102					X																	149839946		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149839946C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1690C>T	X.37:g.149839946C>T	ENSP00000359423:p.Arg564Cys					MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R527C|MTM1_uc011mxz.2_Missense_Mutation_p.R449C|MTM1_uc010nte.3_Missense_Mutation_p.R432C	p.R564C	NM_000252	NP_000243	Q13496	MTM1_HUMAN			14	1766	+	Acute lymphoblastic leukemia(192;6.56e-05)		564					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1690C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109722	0.20714	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.96459	-4.02;-3.78;-3.98	4.85	4.85	0.62838	.	0.058102	0.64402	D	0.000004	D	0.94791	0.8318	M	0.79343	2.45	0.58432	D	0.999998	P;P	0.39216	0.481;0.664	B;B	0.33196	0.12;0.159	D	0.94853	0.8015	10	0.62326	D	0.03	.	12.5163	0.56034	0.1668:0.8332:0.0:0.0	.	527;564	B7Z491;Q13496	.;MTM1_HUMAN	C	564;449;527	ENSP00000359423:R564C;ENSP00000439784:R449C;ENSP00000389157:R527C	ENSP00000359423:R564C	R	+	1	0	MTM1	149590604	1.000000	0.71417	0.059000	0.19551	0.036000	0.12997	2.087000	0.41653	2.123000	0.65237	0.600000	0.82982	CGC		0.517	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		T	149839946	C	T	149839946	3	4	152	1	0	0	0	0	1	0	0	0	9937	536	19	1	1744	1	MTM1	23	149839946	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	10253142	149839946	5430614	136	10587											
GABRE	2564	broad.mit.edu	37	chrX	151128446	151128446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcattctcaggataggAaactggaaaggaatgtgaga	15	9	11	6	0	2	1	2	1	2	1	4	6	2	5	0	4	1	0	0	4	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:151128446A>G	ENST00000370328.3	-	6	702	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	GABRE_ENST00000370325.1_Missense_Mutation_p.S217P|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Missense_Mutation_p.S24P|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	217					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGGATAGGAAACTGGAAAG	0.438																																						uc004ffi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(649-651)Tcc>Ccc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.							82	80	81					X																	151128446		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151128446A>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.649T>C	X.37:g.151128446A>G	ENSP00000359353:p.Ser217Pro					GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	p.S217P	NM_004961	NP_004952	P78334	GBRE_HUMAN			5	703	-	Acute lymphoblastic leukemia(192;6.56e-05)		217					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.649T>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	A	9.739	1.164378	0.21538	.	.	ENSG00000102287	ENST00000370328;ENST00000370325;ENST00000393914	T;T	0.79845	-1.31;-1.31	5.78	4.59	0.56863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.236404	0.28809	N	0.014079	D	0.87321	0.6148	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.87981	0.2743	10	0.87932	D	0	.	8.938	0.35711	0.6582:0.3418:0.0:0.0	.	217	P78334	GBRE_HUMAN	P	217;217;24	ENSP00000359353:S217P;ENSP00000359350:S217P	ENSP00000359350:S217P	S	-	1	0	GABRE	150879102	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.812000	0.62613	2.044000	0.60594	0.486000	0.48141	TCC		0.438	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		G	151128446	A	G	151128446	3	3	152	1	0	0	0	0	1	0	0	0	6170	246	9	4	887	4	GABRE	23	151128446	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	1288500	151128446	4142114	137	10588											
PLXNB3	5365	broad.mit.edu	37	chrX	153033712	153033712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccacgtaggattccccCgagtcgtacccctgtggcga	6	8	11	16	4	0	0	0	0	0	0	2	3	1	1	6	2	2	2	6	2	2	3	rs367873902		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:153033712C>T	ENST00000361971.5	+	4	1209	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.P18P|PLXNB3_ENST00000538966.1_Silent_p.P388P|PLXNB3_ENST00000538282.1_Silent_p.P18P	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	365	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGATTCCCCCGAGTCGTACC	0.687													C|||	1	0.000264901	0	0	3775	,	,		11692	0		0	False		,,,				2504	0.001					uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1162-1164)ccC>ccT		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.		C	,	0,3833		0,0,1631,571	39	44	42		1164,1095	-9.6	0	X		42	1,6721		0,1,2426,1868	no	coding-synonymous,coding-synonymous	PLXNB3	NM_001163257.1,NM_005393.2	,	0,1,4057,2439	TT,TC,CC,C		0.0149,0.0,0.0095	,	388/1933,365/1910	153033712	1,10554	2202	4295	6497	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033712C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1095C>T	X.37:g.153033712C>T						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.P47P|PLXNB3_uc004fii.2_Silent_p.P365P|PLXNB3_uc011mzd.1_Silent_p.P4P	p.P388P	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			4	1435	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		365			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1164C>T	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153033712	C	T	153033712	2	4	152	1	0	0	0	0	0	0	0	1	12125	639	23	2		2	PLXNB3	23	153033712	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	1905266	153033712	2236848	138	10589											
MPP1	4354	broad.mit.edu	37	chrX	154009984	154009984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaaactccaagaacTcattggcagagatgttcctc	12	9	8	12	0	1	2	1	0	0	2	4	3	3	2	3	1	4	3	3	1	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:154009984T>A	ENST00000369534.3	-	10	1187	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	MPP1_ENST00000393531.1_Missense_Mutation_p.E327V|MPP1_ENST00000413259.3_Missense_Mutation_p.E317V|MPP1_ENST00000462825.1_5'Flank	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	347	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCAAGAACTCATTGGCAGA	0.468																																						uc004fmp.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(1039-1041)gAg>gTg		Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.							341	247	279					X																	154009984		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154009984T>A		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1040A>T	X.37:g.154009984T>A	ENSP00000358547:p.Glu347Val					MPP1_uc011mzv.2_Missense_Mutation_p.E317V|MPP1_uc010nvg.2_Missense_Mutation_p.E327V|MPP1_uc011mzw.2_Missense_Mutation_p.E330V	p.E347V	NM_002436	NP_002427	Q00013	EM55_HUMAN			9	1194	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		347			Guanylate kinase-like.|Interaction with MPP5.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.1040A>T	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055072	0.55325	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.48201	0.82;0.82;0.82	5.39	5.39	0.77823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.047137	0.85682	D	0.000000	T	0.66973	0.2844	H	0.94847	3.59	0.58432	D	0.999999	P;P;P;P	0.43788	0.817;0.632;0.578;0.632	P;P;P;P	0.46718	0.525;0.497;0.485;0.497	T	0.76793	-0.2828	10	0.87932	D	0	.	13.2369	0.59974	0.0:0.0:0.0:1.0	.	330;317;327;347	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	V	347;317;327	ENSP00000358547:E347V;ENSP00000400155:E317V;ENSP00000377165:E327V	ENSP00000358547:E347V	E	-	2	0	MPP1	153663178	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.120000	0.57897	1.803000	0.52742	0.481000	0.45027	GAG		0.468	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		A	154009984	T	A	154009984	3	1	152	1	0	0	0	0	1	0	0	0	9733	1551	54	5	372	5	MPP1	23	154009984	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	976272	154009984	1260576	139	10590											
MTOR	2475	broad.mit.edu	37	chr1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtagtgtagcacagcttCgaagttcatcactgcccacg	9	12	9	11	2	2	0	2	0	0	0	3	1	2	0	1	0	3	5	1	0	3	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:11190804C>T	ENST00000361445.4	-	39	5471	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_ENST00000376838.1_Missense_Mutation_p.E4K|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1799	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E1799K(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGCACAGCTTCGAAGTTCATC	0.582																																						uc001asd.3																			4	Substitution - Missense(4)	p.E1799K(8)	endometrium(2)|large_intestine(1)|prostate(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5395-5397)Gaa>Aaa		Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.							121	74	90					1																	11190804		2200	4300	6500	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11190804C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5395G>A	1.37:g.11190804C>T	ENSP00000354558:p.Glu1799Lys					MTOR_uc001asc.3_Missense_Mutation_p.E4K	p.E1799K	NM_004958	NP_004949	P42345	MTOR_HUMAN			38	5516	-			1799			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5395G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414915	0.83449	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.71934	-0.61;-0.61	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.052549	0.85682	D	0.000000	T	0.71273	0.3320	L	0.49126	1.545	0.80722	D	1	P	0.46457	0.878	P	0.44897	0.463	T	0.71540	-0.4562	10	0.41790	T	0.15	-10.2886	19.5023	0.95100	0.0:1.0:0.0:0.0	.	1799	P42345	MTOR_HUMAN	K	1799;4	ENSP00000354558:E1799K;ENSP00000366034:E4K	ENSP00000354558:E1799K	E	-	1	0	MTOR	11113391	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.447000	0.80620	2.605000	0.88082	0.591000	0.81541	GAA		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11190804	C	T	11190804	3	4	153	1	0	0	0	0	1	0	0	0	9954	893	31	2	2334	2	MTOR	1	11190804	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		11190804	238059817	1	10591											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837525	12837525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcctggagctgtatcCtgcccctctggagagttatg	7	11	12	11	0	1	1	0	0	1	1	2	3	2	2	4	2	3	4	4	2	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:12837525C>T	ENST00000357726.4	+	3	1262	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	412					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGTATCCTGCCCCTCTG	0.577																																						uc001aui.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1234-1236)cCt>cTt		Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.							111	120	117					1																	12837525		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837525C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1235C>T	1.37:g.12837525C>T	ENSP00000350358:p.Pro412Leu						p.P412L	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1262	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	412						Missense_Mutation	SNP	ENST00000357726.4	37	c.1235C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.77	2.633362	0.47049	.	.	ENSG00000116726	ENST00000357726	T	0.21191	2.02	2.72	1.77	0.24775	.	0.205916	0.41194	D	0.000922	T	0.43545	0.1252	M	0.81497	2.545	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16041	-1.0416	10	0.87932	D	0	.	9.0335	0.36273	0.2207:0.7793:0.0:0.0	.	412	O95522	PRA12_HUMAN	L	412	ENSP00000350358:P412L	ENSP00000350358:P412L	P	+	2	0	PRAMEF12	12760112	0.003000	0.15002	0.001000	0.08648	0.187000	0.23431	1.069000	0.30641	0.663000	0.31027	0.195000	0.17529	CCT		0.577	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12837525	C	T	12837525	3	4	153	1	0	0	0	0	1	0	0	0	12428	681	24	3	1245	3	PRAMEF12	1	12837525	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1646721	12837525	236413096	2	10592											
DDI2	84301	broad.mit.edu	37	chr1	15978327	15978327	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctggaagagaggatgtaCggccagaggagattgcagac	12	5	18	6	1	0	4	0	0	0	4	0	8	0	6	1	5	2	3	1	5	2	2	rs373473419		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:15978327C>A	ENST00000480945.1	+	8	1291	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	374							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAGGATGTACGGCCAGAGGA	0.512																																						uc001awx.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(1120-1122)Cgg>Agg		Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.							85	82	83					1																	15978327		2203	4300	6503	SO:0001819	synonymous_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15978327C>A		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1120C>A	1.37:g.15978327C>A						RSC1A1_uc009voj.2_5'UTR	p.R374R	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	1333	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	374					A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	c.1120C>A	CCDS30607.1																																																																																				0.512	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		A	15978327	C	A	15978327	2	1	153	1	0	0	0	0	0	0	0	1	4329	527	19	5		5	DDI2	1	15978327	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	3140802	15978327	233272294	3	10593											
C1orf64	149563	broad.mit.edu	37	chr1	16330879	16330879	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcctggagaccagctcCggtaagaggcggcaaaggga	12	3	16	10	2	0	2	0	0	0	2	1	4	1	3	3	6	1	3	3	6	2	1	rs143498880	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:16330879C>A	ENST00000329454.2	+	1	149	c.81C>A	c.(79-81)tcC>tcA	p.S27S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	27										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCTCCGGTAAGAGGC	0.647																																						uc001axn.3																			0				breast(2)|endometrium(1)|lung(3)	6						c.e1+1		Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.							31	31	31					1																	16330879		2198	4294	6492	SO:0001630	splice_region_variant	149563							g.chr1:16330879C>A	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"ER-related factor"					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.82+1C>A	1.37:g.16330879C>A							p.G28_splice	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	1	150	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	28					B3KXI9	Silent	SNP	ENST00000329454.2	37	c.82_splice	CCDS166.1																																																																																				0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840	Silent	A	16330879	C	A	16330879	5	1	153	1	0	0	0	0	0	0	1	0	2054	666	23	5	83	5	C1orf64	1	16330879	Splice_Site	SNP	C	TCGA-19-1790-01B-01D-1353-08	352552	16330879	232919742	4	10594											
CDA	978	broad.mit.edu	37	chr1	20945033	20945033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgccctcctcctttgGgcctgaggacctgcagaaga	6	9	12	14	0	0	3	0	1	0	2	2	4	2	4	5	2	3	3	5	2	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:20945033G>A	ENST00000375071.3	+	4	595	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	138					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TCCTCCTTTGGGCCTGAGGAC	0.557																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(412-414)gGg>gAg		Homo sapiens cytidine deaminase (CDA), mRNA.	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						80	68	72					1																	20945033		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20945033G>A	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.413G>A	1.37:g.20945033G>A	ENSP00000364212:p.Gly138Glu					CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	p.G138E	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	592	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	138						Missense_Mutation	SNP	ENST00000375071.3	37	c.413G>A	CCDS210.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963034	0.53507	.	.	ENSG00000158825	ENST00000375071	T	0.49432	0.78	5.83	5.83	0.93111	Cytidine deaminase-like (1);	0.106321	0.64402	D	0.000004	T	0.70141	0.3190	M	0.81614	2.55	0.52501	D	0.999954	D	0.76494	0.999	D	0.77557	0.99	T	0.71543	-0.4561	10	0.52906	T	0.07	.	15.6056	0.76668	0.0:0.0:1.0:0.0	.	138	P32320	CDD_HUMAN	E	138	ENSP00000364212:G138E	ENSP00000364212:G138E	G	+	2	0	CDA	20817620	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.586000	0.74067	2.761000	0.94854	0.491000	0.48974	GGG		0.557	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		A	20945033	G	A	20945033	3	1	153	1	0	0	0	0	1	0	0	0	3052	1232	43	3	427	3	CDA	1	20945033	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4614154	20945033	228305588	5	10595											
HSPG2	3339	broad.mit.edu	37	chr1	22163397	22163397	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacagcacagtggaacTcaacgctggccccaatgctc	10	6	11	14	1	1	0	1	0	0	0	2	1	1	1	2	3	4	4	2	3	3	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:22163397T>A	ENST00000374695.3	-	75	10332	c.10253A>T	c.(10252-10254)gAg>gTg	p.E3418V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3418	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACAGTGGAACTCAACGCTGGC	0.662																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10255-10257)gAg>gTg		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						55	45	48					1																	22163397		2191	4292	6483	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22163397T>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10253A>T	1.37:g.22163397T>A	ENSP00000363827:p.Glu3418Val					HSPG2_uc001bfj.3_Missense_Mutation_p.E3418V	p.E3419V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	74	10296	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3418			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10256A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230684	0.79688	.	.	ENSG00000142798	ENST00000374695	T	0.26373	1.74	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001120	T	0.40862	0.1134	L	0.43598	1.365	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.11494	-1.0585	10	0.36615	T	0.2	.	12.7864	0.57507	0.0:0.0:0.0:1.0	.	1358;3418	Q59EG0;P98160	.;PGBM_HUMAN	V	3418	ENSP00000363827:E3418V	ENSP00000363827:E3418V	E	-	2	0	HSPG2	22035984	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	5.023000	0.64084	1.891000	0.54761	0.533000	0.62120	GAG		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22163397	T	A	22163397	3	1	153	1	0	0	0	0	1	0	0	0	7430	1551	54	5	3014	5	HSPG2	1	22163397	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1218364	22163397	227087224	6	10596											
ARID1A	8289	broad.mit.edu	37	chr1	27099916	27099916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctacagtcgtgctgccggCcctgggctaggaaatgtggc	6	8	14	13	2	0	0	0	0	0	0	1	1	0	1	3	4	3	2	3	4	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:27099916C>T	ENST00000324856.7	+	15	4166	c.3795C>T	c.(3793-3795)ggC>ggT	p.G1265G	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Silent_p.G882G|ARID1A_ENST00000457599.2_Silent_p.G1265G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1265					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGCTGCCGGCCCTGGGCTAG	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3793-3795)ggC>ggT		Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.							68	63	65					1																	27099916		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099916C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3795C>T	1.37:g.27099916C>T						ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.G1265G	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4168	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1265					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3795C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	4.592	0.110056	0.08780	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56019	-0.8048	4	.	.	.	-2.6541	8.5269	0.33311	0.0:0.7919:0.0:0.2081	.	.	.	.	S	162	.	.	P	+	1	0	ARID1A	26972503	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.806000	0.47947	2.627000	0.88993	0.655000	0.94253	CCC		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27099916	C	T	27099916	2	4	153	1	0	0	0	0	0	0	0	1	913	726	26	3		3	ARID1A	1	27099916	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	4936519	27099916	222150705	7	10597											
CYP4X1	260293	broad.mit.edu	37	chr1	47498946	47498946	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctagacggacccaagtGgttccagcatcgtcgcctac	8	8	11	14	3	1	1	0	0	1	1	4	2	2	2	3	3	2	3	3	3	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:47498946G>A	ENST00000371901.3	+	4	648	c.398G>A	c.(397-399)tGg>tAg	p.W133*	CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.W132*	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	133						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGACCCAAGTGGTTCCAGCAT	0.423																																						uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(397-399)tGg>tAg		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.							109	95	100					1																	47498946		2203	4300	6503	SO:0001587	stop_gained	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47498946G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.398G>A	1.37:g.47498946G>A	ENSP00000360968:p.Trp133*					CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W68*	p.W133*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			3	648	+			133					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Nonsense_Mutation	SNP	ENST00000371901.3	37	c.398G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	39	7.503375	0.98325	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8981	0.96973	0.0:0.0:1.0:0.0	.	.	.	.	X	132;133	.	ENSP00000360968:W133X	W	+	2	0	CYP4X1	47271533	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.017000	0.93651	2.804000	0.96469	0.591000	0.81541	TGG		0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		A	47498946	G	A	47498946	4	1	153	1	0	0	0	0	0	1	0	0	4193	1357	47	3	412	3	CYP4X1	1	47498946	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20399030	47498946	201751675	8	10598											
SYDE2	84144	broad.mit.edu	37	chr1	85624724	85624724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgtatttaaaaagtaGttttccccacagctgctcca	10	16	5	10	0	1	0	0	0	1	0	3	0	3	0	3	0	2	5	3	0	5	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:85624724G>C	ENST00000341460.5	-	7	3343	c.3294C>G	c.(3292-3294)aaC>aaG	p.N1098K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1098					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTAAAAAGTAGTTTTCCCCAC	0.388																																						uc009wcm.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(3292-3294)aaC>aaG		Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.							91	90	90					1																	85624724		1844	4094	5938	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624724G>C	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3294C>G	1.37:g.85624724G>C	ENSP00000340594:p.Asn1098Lys						p.N1098K	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	6	3343	-			1098					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.3294C>G	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870937	0.51695	.	.	ENSG00000097096	ENST00000341460	T	0.41400	1.0	6.17	6.17	0.99709	.	0.273768	0.46442	D	0.000298	T	0.29491	0.0735	L	0.51422	1.61	0.37417	D	0.913477	B	0.25850	0.136	B	0.23275	0.045	T	0.10428	-1.0630	10	0.72032	D	0.01	.	17.766	0.88477	0.0:0.1218:0.8782:0.0	.	1098	Q5VT97	SYDE2_HUMAN	K	1098	ENSP00000340594:N1098K	ENSP00000340594:N1098K	N	-	3	2	SYDE2	85397312	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	1.649000	0.37281	2.941000	0.99782	0.655000	0.94253	AAC		0.388	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			C	85624724	G	C	85624724	3	2	153	1	0	0	0	0	1	0	0	0	15433	1020	36	5	294	5	SYDE2	1	85624724	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	38125778	85624724	163625897	9	10599											
COL24A1	255631	broad.mit.edu	37	chr1	86377068	86377068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaaaaaattaccttttCgccaatgcttccagtcatcc	11	15	3	12	1	2	0	1	0	1	0	5	0	4	0	4	0	2	1	4	0	5	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:86377068C>T	ENST00000370571.2	-	25	2977	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E871K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	871	Collagen-like 6.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTACCTTTTCGCCAATGCTT	0.308																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(2611-2613)Gaa>Aaa		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							65	65	65					1																	86377068		1809	4061	5870	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86377068C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2611G>A	1.37:g.86377068C>T	ENSP00000359603:p.Glu871Lys					COL24A1_uc001dli.3_Missense_Mutation_p.E7K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E171K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.E871K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	24	2686	-			871			Collagen-like 6.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2611G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088837	0.36855	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93247	-3.19;-3.19	4.49	4.49	0.54785	.	0.000000	0.34932	N	0.003577	D	0.92861	0.7729	L	0.50993	1.605	0.49299	D	0.99977	D;D	0.76494	0.998;0.999	D;D	0.76071	0.96;0.987	D	0.90352	0.4367	10	0.17369	T	0.5	.	12.5763	0.56365	0.0:1.0:0.0:0.0	.	871;871	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	K	871	ENSP00000359603:E871K;ENSP00000392531:E871K	ENSP00000359603:E871K	E	-	1	0	COL24A1	86149656	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	3.949000	0.56668	2.317000	0.78254	0.563000	0.77884	GAA		0.308	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		T	86377068	C	T	86377068	3	4	153	1	0	0	0	0	1	0	0	0	3683	893	31	2	2677	2	COL24A1	1	86377068	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	752344	86377068	162873553	10	10600											
NOTCH2	4853	broad.mit.edu	37	chr1	120510201	120510201	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggaaggcgccatcCgtgttcacacattttcctgc	8	11	9	13	2	2	0	2	0	0	0	4	1	4	1	3	2	1	1	3	2	1	3	rs587728761		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:120510201C>A	ENST00000256646.2	-	8	1527	c.1308G>T	c.(1306-1308)acG>acT	p.T436T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	436	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.T436T(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCGCCATCCGTGTTCACAC	0.473			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		1	Substitution - coding silent(1)	p.T436T(2)	lung(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1306-1308)acG>acT		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							159	126	137					1																	120510201		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510201C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1308G>T	1.37:g.120510201C>A						NOTCH2_uc001eil.3_Silent_p.T436T|NOTCH2_uc021osy.1_Silent_p.T397T|NOTCH2_uc001eim.4_Silent_p.T353T	p.T436T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1605	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	436			EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.1308G>T	CCDS908.1																																																																																				0.473	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120510201	C	A	120510201	2	1	153	1	0	0	0	0	0	0	0	1	10548	639	23	5		5	NOTCH2	1	120510201	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	34133133	120510201	128740420	11	10601											
TCHH	7062	broad.mit.edu	37	chr1	152080460	152080460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctaggatttttctgtagcGttcttggcggcgcagctgct	4	15	12	10	3	3	0	0	0	3	0	3	1	3	1	0	3	3	5	0	3	2	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:152080460G>A	ENST00000368804.1	-	2	5232	c.5233C>T	c.(5233-5235)Cgc>Tgc	p.R1745C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1745	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCGTTCTTGGCGG	0.587																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5233-5235)Cgc>Tgc		Homo sapiens trichohyalin (TCHH), mRNA.							40	42	41					1																	152080460		1905	4120	6025	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080460G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5233C>T	1.37:g.152080460G>A	ENSP00000357794:p.Arg1745Cys					TCHH_uc001ezp.2_Missense_Mutation_p.R1745C	p.R1745C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5505	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1745			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5233C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	9.016	0.983583	0.18889	.	.	ENSG00000159450	ENST00000368804	T	0.06528	3.29	3.68	-0.863	0.10669	.	.	.	.	.	T	0.05090	0.0136	L	0.52126	1.63	0.09310	N	1	D	0.76494	0.999	P	0.56563	0.801	T	0.25641	-1.0126	9	0.56958	D	0.05	1.5658	8.1036	0.30872	0.0:0.4576:0.3811:0.1613	.	1745	Q07283	TRHY_HUMAN	C	1745	ENSP00000357794:R1745C	ENSP00000357794:R1745C	R	-	1	0	TCHH	150347084	0.000000	0.05858	0.002000	0.10522	0.220000	0.24768	0.095000	0.15127	-0.272000	0.09259	0.467000	0.42956	CGC		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		A	152080460	G	A	152080460	3	1	153	1	0	0	0	0	1	0	0	0	15697	1145	40	1	602	1	TCHH	1	152080460	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	31570259	152080460	97170161	12	10602											
C1orf14	81626	broad.mit.edu	37	chr1	182922239	182922239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcggaatgagtccgcGggcaccgaggccttggagcc	7	6	17	11	4	0	1	0	1	0	0	1	4	1	3	4	5	2	1	4	5	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:182922239G>A	ENST00000367547.3	-	1	266	c.30C>T	c.(28-30)ccC>ccT	p.P10P	SHCBP1L_ENST00000423786.1_5'Flank|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	82										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATGAGTCCGCGGGCACCGAGG	0.716																																						uc001gpu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(28-30)ccC>ccT		Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.							4	5	4					1																	182922239		1801	3815	5616	SO:0001819	synonymous_variant	81626							g.chr1:182922239G>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.30C>T	1.37:g.182922239G>A						SHCBP1L_uc001gpv.3_5'UTR|SHCBP1L_uc010pnz.2_5'UTR|SHCBP1L_uc001gpw.3_5'UTR	p.P10P	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN			0	315	-			82					Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	c.30C>T	CCDS30955.1																																																																																				0.716	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		A	182922239	G	A	182922239	2	1	153	1	0	0	0	0	0	0	0	1	2000	1103	39	2		2	C1orf14	1	182922239	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	30841779	182922239	66328382	13	10603											
PPP1R12B	4660	broad.mit.edu	37	chr1	202418229	202418229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctagcactgccaatGgggttacagctactcctgtg	7	12	9	13	0	1	0	0	0	1	0	3	0	3	0	3	2	5	3	3	2	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:202418229G>A	ENST00000608999.1	+	13	1933	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.G594R	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	594					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CACTGCCAATGGGGTTACAGC	0.507																																						uc001gya.2																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1780-1782)Ggg>Agg		Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.							106	87	93					1																	202418229		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202418229G>A	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1780G>A	1.37:g.202418229G>A	ENSP00000476755:p.Gly594Arg						p.G594R	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1930	+			594					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.1780G>A	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586817	0.86851	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.40476	1.03;1.04	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000010	T	0.53417	0.1795	M	0.72479	2.2	0.80722	D	1	D;P	0.57571	0.98;0.903	P;P	0.52957	0.714;0.484	T	0.47484	-0.9114	10	0.11182	T	0.66	.	17.9463	0.89039	0.0:0.0:1.0:0.0	.	594;594	O60237;F8W8M3	MYPT2_HUMAN;.	R	594	ENSP00000384496:G594R;ENSP00000337897:G594R	ENSP00000337897:G594R	G	+	1	0	PPP1R12B	200684852	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.389000	0.59639	2.745000	0.94114	0.655000	0.94253	GGG		0.507	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		A	202418229	G	A	202418229	3	1	153	1	0	0	0	0	1	0	0	0	12355	1348	47	3	1920	3	PPP1R12B	1	202418229	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	19495990	202418229	46832392	14	10604											
OR2B11	127623	broad.mit.edu	37	chr1	247614696	247614696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatggtgtcattcacagCggtgtcagcacacgacagct	10	9	11	11	2	3	0	3	0	0	0	3	1	3	0	0	2	3	3	0	2	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:247614696C>T	ENST00000318749.6	-	1	612	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATTCACAGCGGTGTCAGCA	0.577																																						uc010pyx.2																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(589-591)Gct>Act		Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.							60	62	61					1																	247614696		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614696C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.589G>A	1.37:g.247614696C>T	ENSP00000325682:p.Ala197Thr						p.A197T	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	589	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	197					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.589G>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.264324	0.00262	.	.	ENSG00000177535	ENST00000318749	T	0.00099	8.73	4.96	-0.717	0.11208	GPCR, rhodopsin-like superfamily (1);	1.779580	0.02977	N	0.145206	T	0.00073	0.0002	N	0.01761	-0.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23655	-1.0182	10	0.02654	T	1	.	7.9999	0.30291	0.0:0.4251:0.0:0.5749	.	197	Q5JQS5	OR2BB_HUMAN	T	197	ENSP00000325682:A197T	ENSP00000325682:A197T	A	-	1	0	OR2B11	245681319	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-7.651000	0.00032	-0.076000	0.12775	-0.262000	0.10625	GCT		0.577	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		T	247614696	C	T	247614696	3	4	153	1	0	0	0	0	1	0	0	0	10988	768	27	1	367	1	OR2B11	1	247614696	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45196467	247614696	1635925	15	10605											
CIB4	130106	broad.mit.edu	37	chr2	26805768	26805768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgtcattgtccagatccGactcactcaggacctggcga	8	11	10	12	2	3	1	3	0	0	1	5	4	5	2	3	2	0	1	3	2	0	2	rs370969445		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:26805768G>A	ENST00000288861.4	-	6	505	c.452C>T	c.(451-453)tCg>tTg	p.S151L	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	151	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGATCCGACTCACTCAG	0.542																																						uc002rhm.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10						c.(451-453)tCg>tTg		Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.							115	94	101					2																	26805768		2203	4300	6503	SO:0001583	missense	130106						calcium ion binding	g.chr2:26805768G>A		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.452C>T	2.37:g.26805768G>A	ENSP00000288861:p.Ser151Leu						p.S151L	NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN			5	481	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		151			EF-hand 3.		B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	c.452C>T	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010154	0.54361	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.68479	-0.33	5.46	4.58	0.56647	EF-hand-like domain (1);	0.120797	0.36972	N	0.002302	T	0.44286	0.1286	N	0.05414	-0.055	0.34771	D	0.733759	B	0.32829	0.386	B	0.29663	0.105	T	0.59473	-0.7448	10	0.87932	D	0	.	10.3543	0.43954	0.0907:0.0:0.9093:0.0	.	151	A0PJX0	CIB4_HUMAN	L	151;106;153	ENSP00000288861:S151L	ENSP00000288861:S151L	S	-	2	0	CIB4	26659272	0.998000	0.40836	0.962000	0.40283	0.915000	0.54546	3.450000	0.52957	1.312000	0.45043	0.650000	0.86243	TCG		0.542	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			A	26805768	G	A	26805768	3	1	153	1	0	0	0	0	1	0	0	0	3423	1059	37	2	113	2	CIB4	2	26805768	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		26805768	216393605	16	10606											
CAD	790	broad.mit.edu	37	chr2	27465508	27465508	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgatggtgggtgacctGaagcacggacgcacagtaca	12	6	13	10	3	1	2	1	2	0	0	1	4	1	3	1	3	2	3	1	3	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:27465508G>T	ENST00000403525.1	+	40	6198	c.6054G>T	c.(6052-6054)ctG>ctT	p.L2018L	CAD_ENST00000264705.4_Silent_p.L2081L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	305					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGTGACCTGAAGCACGGAC	0.587																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6241-6243)ctG>ctT		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						95	90	92					2																	27465508		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465508G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6054G>T	2.37:g.27465508G>T						CAD_uc010eyw.3_Silent_p.L2018L	p.L2081L	NM_004341	NP_004332	P27708	PYR1_HUMAN			40	6405	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2081			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.6243G>T		.	.	.	.	.	.	.	.	.	.	G	6.569	0.473211	0.12461	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.34	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6407	16.4259	0.83814	0.0:0.1433:0.8567:0.0	.	.	.	.	L	117	.	.	X	+	2	2	CAD	27319012	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	4.920000	0.63390	2.498000	0.84270	0.561000	0.74099	TGA		0.587	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27465508	G	T	27465508	2	4	153	1	0	0	0	0	0	0	0	1	2565	1277	45	5		5	CAD	2	27465508	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	659740	27465508	215733865	17	10607											
BIRC6	57448	broad.mit.edu	37	chr2	32710744	32710744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagaagttggacttgaacaGcaagcagaactgatgttgaa	15	9	11	6	0	0	5	0	3	0	2	0	6	0	6	0	1	4	4	0	1	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:32710744G>A	ENST00000421745.2	+	40	7865	c.7731G>A	c.(7729-7731)caG>caA	p.Q2577Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2577					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACTTGAACAGCAAGCAGAAC	0.373																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(7729-7731)caG>caA		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							120	112	114					2																	32710744		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32710744G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7731G>A	2.37:g.32710744G>A							p.Q2577Q	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			39	7865	+	Acute lymphoblastic leukemia(172;0.155)		2577					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.7731G>A	CCDS33175.2																																																																																				0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32710744	G	A	32710744	2	1	153	1	0	0	0	0	0	0	0	1	1438	962	34	3		3	BIRC6	2	32710744	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	5245236	32710744	210488629	18	10608											
PRKCE	5581	broad.mit.edu	37	chr2	46228662	46228662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccccagacaaaatcaccAacagcggccagagaaggaaa	18	3	8	12	1	1	2	1	0	0	2	1	4	1	3	4	2	3	0	4	2	6	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:46228662A>G	ENST00000306156.3	+	7	1270	c.943A>G	c.(943-945)Aac>Gac	p.N315D	PRKCE_ENST00000394874.1_Missense_Mutation_p.N38D	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	315					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAAAATCACCAACAGCGGCCA	0.552																																						uc002rut.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(943-945)Aac>Gac		Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.							67	63	64					2																	46228662		1778	3767	5545	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46228662A>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.943A>G	2.37:g.46228662A>G	ENSP00000306124:p.Asn315Asp						p.N315D	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		6	1140	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	315					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.943A>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120130	0.37436	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.67698	-0.28;0.44	5.64	5.64	0.86602	.	0.143577	0.64402	D	0.000008	T	0.45518	0.1346	N	0.14661	0.345	0.50632	D	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.40572	-0.9556	10	0.12766	T	0.61	.	10.3487	0.43922	0.9277:0.0:0.0722:0.0	.	315	Q02156	KPCE_HUMAN	D	315;38	ENSP00000306124:N315D;ENSP00000378341:N38D	ENSP00000306124:N315D	N	+	1	0	PRKCE	46082166	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.383000	0.79741	2.367000	0.80283	0.528000	0.53228	AAC		0.552	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			G	46228662	A	G	46228662	3	3	153	1	0	0	0	0	1	0	0	0	12511	130	5	4	969	4	PRKCE	2	46228662	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	13517918	46228662	196970711	19	10609											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316179	73316179	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttgcggaggaagaagccTttggctttgcccatcttgcc	6	13	12	10	1	1	1	0	0	1	1	1	3	1	3	3	3	4	2	3	3	2	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:73316179T>C	ENST00000258098.6	-	2	936	c.696A>G	c.(694-696)aaA>aaG	p.K232K	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	232					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGAAGAAGCCTTTGGCTTTGC	0.602																																						uc002siu.4																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(694-696)aaA>aaG		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							146	131	136					2																	73316179		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316179T>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.696A>G	2.37:g.73316179T>C						RAB11FIP5_uc002sit.4_Silent_p.K154K	p.K232K	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	937	-			232					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.696A>G	CCDS1923.1																																																																																				0.602	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		C	73316179	T	C	73316179	2	2	153	1	0	0	0	0	0	0	0	1	12897	1606	56	4		4	RAB11FIP5	2	73316179	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	27087517	73316179	169883194	20	10610											
PAX8	7849	broad.mit.edu	37	chr2	113999249	113999249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgcgaaggtgctttcggGgtccgctgctgctgctctgt	2	12	15	12	4	1	0	0	0	1	0	3	1	2	0	2	3	5	5	2	3	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:113999249G>T	ENST00000429538.3	-	7	850	c.656C>A	c.(655-657)cCc>cAc	p.P219H	AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000556070.1_RNA|RP11-65I12.1_ENST00000553319.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P219H|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P219H|PAX8_ENST00000348715.5_Missense_Mutation_p.P219H|PAX8_ENST00000397647.3_Missense_Mutation_p.P219H|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	219					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGCTTTCGGGGTCCGCTGCT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.2				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(655-657)cCc>cAc		Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.							72	79	77					2																	113999249		2140	4245	6385	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113999249G>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.656C>A	2.37:g.113999249G>T	ENSP00000395498:p.Pro219His					PAX8_uc010yxu.2_Missense_Mutation_p.P219H|PAX8_uc002tjm.3_Missense_Mutation_p.P219H|PAX8_uc002tjn.3_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	p.P219H	NM_003466	NP_003457	Q06710	PAX8_HUMAN			6	822	-			219					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.656C>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776792	0.70107	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.97791	-4.54;-4.53;-4.29;-3.86;-4.29	4.69	4.69	0.59074	.	0.277140	0.35708	N	0.003028	D	0.97102	0.9053	L	0.34521	1.04	0.37068	D	0.898373	D;D;D;P;P	0.76494	0.99;0.999;0.992;0.867;0.948	P;D;P;P;B	0.65443	0.726;0.935;0.615;0.689;0.438	D	0.97999	1.0359	10	0.56958	D	0.05	.	11.379	0.49746	0.0:0.1838:0.8162:0.0	.	219;219;219;219;219	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	H	219	ENSP00000263335:P219H;ENSP00000380768:P219H;ENSP00000314750:P219H;ENSP00000395498:P219H;ENSP00000263334:P219H	ENSP00000263334:P219H	P	-	2	0	PAX8	113715719	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.270000	0.72563	2.334000	0.79466	0.650000	0.86243	CCC		0.597	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			T	113999249	G	T	113999249	3	4	153	1	0	0	0	0	1	0	0	0	11485	1232	43	5	595	5	PAX8	2	113999249	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	40683070	113999249	129200124	21	10611											
TTN	7273	broad.mit.edu	37	chr2	179407009	179407009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggatgctgctgcgacactCtatgacctcagactgcaagt	10	9	10	12	2	2	2	1	1	1	1	2	4	2	3	1	1	4	3	1	1	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179407009C>G	ENST00000591111.1	-	299	92775	c.92551G>C	c.(92551-92553)Gag>Cag	p.E30851Q	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23552Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23619Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32492Q|TTN_ENST00000342992.6_Missense_Mutation_p.E29924Q|TTN_ENST00000460472.2_Missense_Mutation_p.E23427Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30851	Fibronectin type-III 124. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCGACACTCTATGACCTCA	0.463																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89770-89772)Gag>Cag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							52	49	50					2																	179407009		2037	4190	6227	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407009C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92551G>C	2.37:g.179407009C>G	ENSP00000465570:p.Glu30851Gln					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23619Q|TTN_uc021vta.1_Missense_Mutation_p.E23552Q|TTN_uc021vtb.1_Missense_Mutation_p.E23427Q	p.E29924Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	89995	-			30851			Fibronectin type-III 118.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89770G>C		.	.	.	.	.	.	.	.	.	.	C	23.1	4.370698	0.82573	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62498	0.02;0.25;0.23;0.22	6.17	6.17	0.99709	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.73410	0.3583	L	0.39147	1.195	0.52099	D	0.999942	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	P;P;P;D	0.63488	0.852;0.852;0.852;0.915	T	0.73322	-0.4019	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23427;23552;23619;30851	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29924;23427;23619;23552;23424	ENSP00000343764:E29924Q;ENSP00000434586:E23427Q;ENSP00000340554:E23619Q;ENSP00000352154:E23552Q	ENSP00000340554:E23619Q	E	-	1	0	TTN	179115255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.879000	0.63100	2.941000	0.99782	0.655000	0.94253	GAG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179407009	C	G	179407009	3	3	153	1	0	0	0	0	1	0	0	0	16732	922	32	5	10561	5	TTN	2	179407009	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	65407760	179407009	63792364	22	10612											
TTN	7273	broad.mit.edu	37	chr2	179634616	179634616	+	Frame_Shift_Del	DEL	T	T	-																															ctcacactcaaaagaggcagTtttggtctcaggcacctcga																								rs78680811		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179634616delT	ENST00000591111.1	-	37	8916	c.8692delA	c.(8692-8694)actfs	p.T2898fs	TTN_ENST00000359218.5_Frame_Shift_Del_p.T2852fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.T2852fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.T2898fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.T2898fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T2852fs|TTN_ENST00000360870.5_Frame_Shift_Del_p.T2898fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13228	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAGGCAGTTTTGGTCTCA	0.368																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8692-8694)actfs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							98	99	99					2																	179634616		2203	4300	6503	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634616delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8692delA	2.37:g.179634616delT	ENSP00000465570:p.Thr2898fs					TTN_uc021vsz.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vta.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs	p.T2898fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8917	-			2898			Ig-like 16.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.8692delA																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179634616	T	-	179634616	7	5	153	1	0	1	0	1	0	0	0	0	16732	1725	60	0	102600	0	TTN	2	179634616	Frame_Shift_Del	DEL	T	TCGA-19-1790-01B-01D-1353-08	227607	179634616	63564757	23	10613											
MYO1B	4430	broad.mit.edu	37	chr2	192255148	192255148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacgccttcaggcaggccTatgaaccttgcctagaaaga	11	8	10	12	1	1	3	1	1	0	2	1	3	1	3	4	2	3	2	4	2	5	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:192255148T>C	ENST00000392318.3	+	18	2159	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H	MYO1B_ENST00000439065.2_5'Flank|MYO1B_ENST00000339514.4_Missense_Mutation_p.Y638H|MYO1B_ENST00000304164.4_Missense_Mutation_p.Y638H|MYO1B_ENST00000392316.1_Missense_Mutation_p.Y638H	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	638	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGGCAGGCCTATGAACCTTG	0.468																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1912-1914)Tat>Cat		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							83	79	80					2																	192255148		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192255148T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1912T>C	2.37:g.192255148T>C	ENSP00000376132:p.Tyr638His					MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	p.Y638H	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		17	2167	+			638			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1912T>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733432	0.89482	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.93759	0.7065	10	0.87932	D	0	.	15.6515	0.77099	0.0:0.0:0.0:1.0	.	638;638	O43795;O43795-2	MYO1B_HUMAN;.	H	638	ENSP00000341903:Y638H;ENSP00000376132:Y638H;ENSP00000306382:Y638H;ENSP00000376130:Y638H	ENSP00000306382:Y638H	Y	+	1	0	MYO1B	191963393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.864000	0.87037	2.270000	0.75569	0.533000	0.62120	TAT		0.468	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		C	192255148	T	C	192255148	3	2	153	1	0	0	0	0	1	0	0	0	10069	1522	53	4	1978	4	MYO1B	2	192255148	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	12620532	192255148	50944225	24	10614											
TMEFF2	23671	broad.mit.edu	37	chr2	193049126	193049126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagtatctcactctgctgTttgcatgcagcctgtcgcag	8	12	9	12	1	2	0	1	0	2	0	4	0	2	0	1	0	4	6	1	0	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:193049126T>C	ENST00000272771.5	-	3	1550	c.366A>G	c.(364-366)aaA>aaG	p.K122K	TMEFF2_ENST00000392314.1_Silent_p.K122K|TMEFF2_ENST00000409056.3_Silent_p.K122K	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	122	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CACTCTGCTGTTTGCATGCAG	0.473																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(364-366)aaA>aaG		Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.							201	162	175					2																	193049126		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193049126T>C	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.366A>G	2.37:g.193049126T>C						TMEFF2_uc002utd.1_Silent_p.K122K	p.K122K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		2	760	-			122			Kazal-like 1.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.366A>G	CCDS2314.1																																																																																				0.473	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		C	193049126	T	C	193049126	2	2	153	1	0	0	0	0	0	0	0	1	16011	1722	60	4		4	TMEFF2	2	193049126	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	793978	193049126	50150247	25	10615											
PAX3	5077	broad.mit.edu	37	chr2	223096854	223096854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctccctagtataaatGtcagggtaatgagttctctc	10	14	8	9	0	2	1	1	1	1	0	6	1	4	1	2	1	0	4	2	1	5	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:223096854G>C	ENST00000350526.4	-	5	871	c.735C>G	c.(733-735)gaC>gaG	p.D245E	PAX3_ENST00000409551.3_Missense_Mutation_p.D244E|PAX3_ENST00000336840.6_Missense_Mutation_p.D245E|PAX3_ENST00000344493.4_Missense_Mutation_p.D245E|PAX3_ENST00000392069.2_Missense_Mutation_p.D245E|PAX3_ENST00000392070.2_Missense_Mutation_p.D245E	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	245					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGTATAAATGTCAGGGTAAT	0.527			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0		p.D245Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(733-735)gaC>gaG		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							135	134	134					2																	223096854		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223096854G>C		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.735C>G	2.37:g.223096854G>C	ENSP00000343052:p.Asp245Glu					PAX3_uc002vmt.2_Missense_Mutation_p.D245E|PAX3_uc002vmy.2_Missense_Mutation_p.D244E|PAX3_uc002vmv.2_Missense_Mutation_p.D245E|PAX3_uc002vmw.2_Missense_Mutation_p.D245E|PAX3_uc002vmx.2_Missense_Mutation_p.D245E	p.D245E	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1116	-		Renal(207;0.0183)	245					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.735C>G	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802915	0.70682	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.37	0.436	0.16549	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.90650	3.135	0.80722	D	1	D;D;D;P;D	0.89917	0.985;1.0;1.0;0.828;1.0	D;D;D;P;D	0.87578	0.932;0.998;0.997;0.54;0.996	D	0.96653	0.9483	10	0.87932	D	0	.	10.478	0.44676	0.4109:0.0:0.5891:0.0	.	245;244;245;245;245	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	E	245;245;245;245;245;244	ENSP00000375921:D245E;ENSP00000342092:D245E;ENSP00000343052:D245E;ENSP00000375922:D245E;ENSP00000338767:D245E;ENSP00000386750:D244E	ENSP00000338767:D245E	D	-	3	2	PAX3	222805098	0.983000	0.35010	0.997000	0.53966	0.985000	0.73830	0.223000	0.17719	0.080000	0.16959	-0.484000	0.04775	GAC		0.527	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			C	223096854	G	C	223096854	3	2	153	1	0	0	0	0	1	0	0	0	11480	1368	48	5	834	5	PAX3	2	223096854	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	30047728	223096854	20102519	26	10616											
ESPNL	339768	broad.mit.edu	37	chr2	239036280	239036280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccatgtccctcagcccgGcctggcctggccatcctgac	5	7	10	19	1	1	1	1	1	0	0	3	1	3	1	7	3	2	0	7	3	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:239036280G>C	ENST00000343063.3	+	7	1383	c.1120G>C	c.(1120-1122)Gcc>Ccc	p.A374P	ESPNL_ENST00000409506.1_Missense_Mutation_p.A6P|ESPNL_ENST00000409169.1_Missense_Mutation_p.A330P	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	374	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTCAGCCCGGCCTGGCCTGG	0.672																																						uc002vxq.4																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(1120-1122)Gcc>Ccc		Homo sapiens espin-like (ESPNL), mRNA.							36	33	34					2																	239036280		2203	4298	6501	SO:0001583	missense	339768							g.chr2:239036280G>C	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1120G>C	2.37:g.239036280G>C	ENSP00000339115:p.Ala374Pro					ESPNL_uc010fyw.3_Missense_Mutation_p.A70P	p.A374P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	6	1230	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	374			Pro-rich.		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.1120G>C	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	1.951	-0.441125	0.04604	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506;ENST00000423032	T;T;T	0.64260	-0.09;1.04;0.58	2.99	-0.0333	0.13901	.	1.296990	0.05630	N	0.581529	T	0.57301	0.2044	L	0.51422	1.61	0.09310	N	1	B;B	0.31009	0.25;0.303	B;B	0.37091	0.241;0.121	T	0.49799	-0.8901	10	0.42905	T	0.14	-8.5552	5.2103	0.15312	0.4772:0.0:0.5228:0.0	.	330;374	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	P	374;330;6;6	ENSP00000339115:A374P;ENSP00000386577:A330P;ENSP00000386579:A6P	ENSP00000339115:A374P	A	+	1	0	ESPNL	238701019	0.001000	0.12720	0.158000	0.22627	0.009000	0.06853	-0.124000	0.10595	-0.020000	0.14032	-0.387000	0.06579	GCC		0.672	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		C	239036280	G	C	239036280	3	2	153	1	0	0	0	0	1	0	0	0	5255	1203	42	5	1146	5	ESPNL	2	239036280	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	15939426	239036280	4163093	27	10617											
OR6B3	150681	broad.mit.edu	37	chr2	240985270	240985270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggtgatgtcagacaCgtaccagatctctaggaaag	11	9	13	8	1	2	3	1	1	1	2	3	4	2	4	1	3	1	1	1	3	3	3	rs201073756		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:240985270C>T	ENST00000319423.4	-	1	219	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGTCAGACACGTACCAGATC	0.557													c|||	1	0.000199681	0	0	5008	,	,		21750	0.001		0	False		,,,				2504	0					uc010zoe.2																			0				endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18						c.(220-222)Gtg>Atg		Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.							101	106	104					2																	240985270		2092	4212	6304	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240985270C>T		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"GPCR / Class A : Olfactory receptors"	15042	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 3 pseudogene"	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.220G>A	2.37:g.240985270C>T	ENSP00000322435:p.Val74Met					PRR21_uc010zod.2_5'Flank	p.V74M	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	0	220	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	74					Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.220G>A	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863075	0.32884	.	.	ENSG00000178586	ENST00000319423	T	0.00438	7.42	3.96	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.924705	0.08879	N	0.880296	T	0.00666	0.0022	M	0.76727	2.345	0.09310	N	1	D	0.63046	0.992	P	0.54060	0.741	T	0.51624	-0.8682	10	0.72032	D	0.01	.	3.4818	0.07605	0.1998:0.5882:0.0:0.212	.	74	Q8NGW1	OR6B3_HUMAN	M	74	ENSP00000322435:V74M	ENSP00000322435:V74M	V	-	1	0	OR6B3	240633943	0.000000	0.05858	0.011000	0.14972	0.713000	0.41058	-0.412000	0.07132	0.620000	0.30215	0.505000	0.49811	GTG		0.557	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			T	240985270	C	T	240985270	3	4	153	1	0	0	0	0	1	0	0	0	11189	536	19	1	778	1	OR6B3	2	240985270	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1948990	240985270	2214103	28	10618											
MYEOV2	150678	broad.mit.edu	37	chr2	241066064	241066064	+	Frame_Shift_Del	DEL	T	T	-																															gtttcatcactcttaaaacaTttacccctccagtgagtaga																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241066064delT	ENST00000307266.3	-	5	674	c.675delA	c.(673-675)aaafs	p.K225fs		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTTAAAACATTTACCCCTCC	0.488																																						uc002vyu.1																			0				breast(1)|lung(5)|pancreas(1)	7						c.(673-675)aaafs		Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.							183	143	157					2																	241066064		2203	4300	6503	SO:0001589	frameshift_variant	150678							g.chr2:241066064delT	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.675delA	2.37:g.241066064delT	ENSP00000304147:p.Lys225fs						p.K225fs	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	4	675	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Frame_Shift_Del	DEL	ENST00000307266.3	37	c.675delA	CCDS2532.1																																																																																				0.488	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		-	241066064	T	-	241066064	7	5	153	1	0	1	0	1	0	0	0	0	10026	1490	52	0	87	0	MYEOV2	2	241066064	Frame_Shift_Del	DEL	T	TCGA-19-1790-01B-01D-1353-08	80794	241066064	2133309	29	10619											
MYEOV2	150678	broad.mit.edu	37	chr2	241069334	241069334	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacttcttacctcttcCgacaccacaggccgctctgc	7	10	7	17	2	3	0	0	0	3	0	4	2	4	0	4	1	3	2	4	1	1	3	rs551865042		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241069334C>T	ENST00000607357.1	-	0	418				MYEOV2_ENST00000489698.1_5'Flank|MYEOV2_ENST00000307266.3_Silent_p.S125S	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18161	0		0	False		,,,				2504	0					uc002vyu.1																			0				breast(1)|lung(5)|pancreas(1)	7						c.(373-375)tcG>tcA		Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.							110	85	93					2																	241069334		2203	4300	6503	SO:0001628	intergenic_variant	150678							g.chr2:241069334C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352		2.37:g.241069334C>T							p.S125S	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	3	375	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Silent	SNP	ENST00000607357.1	37	c.375G>A																																																																																					0.617	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		T	241069334	C	T	241069334	1	4	153	0	1	0	0	0	0	0	0	0	10026	639	23	2		2	MYEOV2	2	241069334	IGR	SNP	C	TCGA-19-1790-01B-01D-1353-08	3270	241069334	2130039	30	10620											
D2HGDH	728294	broad.mit.edu	37	chr2	242683078	242683078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtcctggaggagctgAgccggtatgtggaggaacgg	7	7	19	8	3	0	1	0	1	0	0	1	5	1	5	2	6	4	3	2	6	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:242683078A>G	ENST00000321264.4	+	5	741	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	D2HGDH_ENST00000403782.1_Missense_Mutation_p.S44G|D2HGDH_ENST00000537090.1_Missense_Mutation_p.S178G|D2HGDH_ENST00000342518.6_Missense_Mutation_p.S178G	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	178	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGAGGAGCTGAGCCGGTATGT	0.642																																						uc002wce.1																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(532-534)Agc>Ggc		Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.							51	49	50					2																	242683078		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242683078A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.532A>G	2.37:g.242683078A>G	ENSP00000315351:p.Ser178Gly					D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.S44G|D2HGDH_uc002wcg.1_Non-coding_Transcript	p.S178G	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	705	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	178			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.532A>G	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.50|11.50	1.655983|1.655983	0.29425|0.29425	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000417686|ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518	.|D;D;D;D	.|0.95690	.|-3.78;-3.78;-3.78;-3.78	5.15|5.15	3.98|3.98	0.46160|0.46160	.|FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	.|0.320775	.|0.36134	.|N	.|0.002772	D|D	0.93145|0.93145	0.7817|0.7817	L|L	0.58354|0.58354	1.805|1.805	0.33666|0.33666	D|D	0.610293|0.610293	.|B	.|0.09022	.|0.002	.|B	.|0.13407	.|0.009	D|D	0.92354|0.92354	0.5892|0.5892	5|10	.|0.72032	.|D	.|0.01	.|.	10.6316|10.6316	0.45541|0.45541	0.9239:0.0:0.0761:0.0|0.9239:0.0:0.0761:0.0	.|.	.|178	.|Q8N465	.|D2HDH_HUMAN	G|G	19|178;178;44;178	.|ENSP00000442796:S178G;ENSP00000315351:S178G;ENSP00000384723:S44G;ENSP00000339536:S178G	.|ENSP00000315351:S178G	E|S	+|+	2|1	0|0	D2HGDH|D2HGDH	242331751|242331751	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.243000|0.243000	0.25628|0.25628	4.210000|4.210000	0.58500|0.58500	0.814000|0.814000	0.34374|0.34374	0.379000|0.379000	0.24179|0.24179	GAG|AGC		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		G	242683078	A	G	242683078	3	3	153	1	0	0	0	0	1	0	0	0	4213	304	11	4	546	4	D2HGDH	2	242683078	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	1613744	242683078	516295	31	10621											
DNAH1	25981	broad.mit.edu	37	chr3	52393305	52393305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactggcctggccaggtgaCcatcgctgggtgccagacct	7	7	14	13	1	0	2	0	1	0	1	1	3	0	2	5	4	2	1	5	4	1	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:52393305C>G	ENST00000420323.2	+	26	4571	c.4310C>G	c.(4309-4311)aCc>aGc	p.T1437S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1437	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCAGGTGACCATCGCTGGG	0.627																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4309-4311)aCc>aGc		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							26	33	31					3																	52393305		1962	4145	6107	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393305C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4310C>G	3.37:g.52393305C>G	ENSP00000401514:p.Thr1437Ser						p.T1437S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	4571	+			1437			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4310C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823030	0.50739	.	.	ENSG00000114841	ENST00000420323	T	0.55930	0.49	5.53	3.73	0.42828	.	0.000000	0.52532	D	0.000062	T	0.41534	0.1163	L	0.38953	1.18	0.35274	D	0.780742	B	0.20887	0.049	B	0.19946	0.027	T	0.51379	-0.8713	10	0.49607	T	0.09	.	10.4778	0.44676	0.0:0.7887:0.0:0.2113	.	1437	C9JXH6	.	S	1437	ENSP00000401514:T1437S	ENSP00000401514:T1437S	T	+	2	0	DNAH1	52368345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.026000	0.49689	1.336000	0.45506	0.655000	0.94253	ACC		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52393305	C	G	52393305	3	3	153	1	0	0	0	0	1	0	0	0	4597	507	18	5	4408	5	DNAH1	3	52393305	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		52393305	145629125	32	10622											
OR5K2	402135	broad.mit.edu	37	chr3	98216751	98216751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattcttgctgtgcctgtgCtattacccccaaaatgttag	8	14	9	10	0	1	0	0	0	1	0	1	1	1	1	3	1	4	3	3	1	5	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:98216751C>G	ENST00000427338.1	+	1	304	c.227C>G	c.(226-228)gCt>gGt	p.A76G		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGCCTGTGCTATTACCCCC	0.413																																						uc011bgx.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(226-228)gCt>gGt		Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.							142	151	148					3																	98216751		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216751C>G	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"GPCR / Class A : Olfactory receptors"	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.227C>G	3.37:g.98216751C>G	ENSP00000393889:p.Ala76Gly						p.A76G	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			0	227	+			76					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.227C>G	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	C	8.871	0.949224	0.18356	.	.	ENSG00000231861	ENST00000427338	T	0.00444	7.4	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.164825	0.28549	N	0.014944	T	0.00637	0.0021	M	0.70903	2.155	0.09310	N	1	P	0.51351	0.944	P	0.51866	0.682	T	0.47774	-0.9091	10	0.66056	D	0.02	-5.2766	11.338	0.49516	0.0:1.0:0.0:0.0	.	76	Q8NHB8	OR5K2_HUMAN	G	76	ENSP00000393889:A76G	ENSP00000393889:A76G	A	+	2	0	OR5K2	99699441	0.000000	0.05858	0.025000	0.17156	0.045000	0.14185	0.235000	0.17948	1.747000	0.51819	0.298000	0.19748	GCT		0.413	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			G	98216751	C	G	98216751	3	3	153	1	0	0	0	0	1	0	0	0	11167	797	28	5	229	5	OR5K2	3	98216751	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45823446	98216751	99805679	33	10623											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721607	135721607	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattgaagaagagtcagatGgaaagaaagcattagataaa	21	8	10	2	0	1	6	1	1	0	5	1	7	1	7	0	1	1	1	0	1	8	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:135721607G>T	ENST00000264977.3	+	2	1884	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	423					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGTCAGATGGAAAGAAAGC	0.358																																						uc003eqv.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1267-1269)Gga>Tga		Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.							70	76	74					3																	135721607		2182	4294	6476	SO:0001587	stop_gained	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721607G>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1267G>T	3.37:g.135721607G>T	ENSP00000264977:p.Gly423*					PPP2R3A_uc011blz.2_Intron	p.G423*	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			1	1884	+			423					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Nonsense_Mutation	SNP	ENST00000264977.3	37	c.1267G>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	42	9.277660	0.99122	.	.	ENSG00000073711	ENST00000264977	.	.	.	5.45	4.58	0.56647	.	0.675506	0.14277	N	0.329798	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.472	0.32991	0.0774:0.0:0.7707:0.1519	.	.	.	.	X	423	.	ENSP00000264977:G423X	G	+	1	0	PPP2R3A	137204297	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.350000	0.44063	1.294000	0.44707	0.655000	0.94253	GGA		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		T	135721607	G	T	135721607	4	4	153	1	0	0	0	0	0	1	0	0	12388	1349	47	5	1269	5	PPP2R3A	3	135721607	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	37504856	135721607	62300823	34	10624											
ACPL2	92370	broad.mit.edu	37	chr3	141006223	141006223	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatccggagcctctttcGaaagccccttgaactccttg	9	10	9	13	2	1	1	0	1	1	0	4	4	3	3	5	2	3	0	5	2	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:141006223G>T	ENST00000286353.4	+	5	570	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	ACPL2_ENST00000502783.1_Nonsense_Mutation_p.E107*|ACPL2_ENST00000508812.1_Nonsense_Mutation_p.E136*|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Nonsense_Mutation_p.E128*|ACPL2_ENST00000393010.2_Nonsense_Mutation_p.E145*|ACPL2_ENST00000393007.1_Nonsense_Mutation_p.E129*	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		145						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCTCTTTCGAAAGCCCCTT	0.493																																						uc003etu.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(433-435)Gaa>Taa		Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.							144	143	143					3																	141006223		2203	4300	6503	SO:0001587	stop_gained	92370					extracellular region	acid phosphatase activity	g.chr3:141006223G>T																												ENST00000286353.4:c.433G>T	3.37:g.141006223G>T	ENSP00000286353:p.Glu145*					ACPL2_uc003etv.3_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.2_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.2_Nonsense_Mutation_p.E128*	p.E145*	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			6	732	+			145					D3DNF5|Q49AJ2|W0TR04	Nonsense_Mutation	SNP	ENST00000286353.4	37	c.433G>T	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	38	6.806258	0.97853	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000502783;ENST00000393010;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	.	.	.	5.67	5.67	0.87782	.	0.155161	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	17.2762	0.87116	0.0:0.0:1.0:0.0	.	.	.	.	X	145;145;107;145;107;128;136;129	.	ENSP00000286353:E145X	E	+	1	0	ACPL2	142488913	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	9.771000	0.98977	2.677000	0.91161	0.561000	0.74099	GAA		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			T	141006223	G	T	141006223	4	4	153	1	0	0	0	0	0	1	0	0	166	1059	37	5	447	5	ACPL2	3	141006223	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	5284616	141006223	57016207	35	10625											
PLCH1	23007	broad.mit.edu	37	chr3	155198910	155198910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggccttcaaggccacccccTttcgtgttcttcaggtagcc	5	11	9	16	2	3	0	2	0	1	0	4	0	3	0	5	3	1	2	5	3	2	5	rs200248330	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:155198910T>A	ENST00000340059.7	-	23	4928	c.4929A>T	c.(4927-4929)aaA>aaT	p.K1643N	PLCH1_ENST00000334686.6_Missense_Mutation_p.K1605N|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.K1605N|PLCH1_ENST00000460012.1_Missense_Mutation_p.K1605N|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1643					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCACCCCCTTTCGTGTTCT	0.562																																						uc021xge.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4927-4929)aaA>aaT		Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.							58	62	60					3																	155198910		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198910T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4929A>T	3.37:g.155198910T>A	ENSP00000345988:p.Lys1643Asn					PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1605N	p.K1643N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	5206	-			1643					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4929A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	3.439	-0.114533	0.06881	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.86	-6.86	0.01676	.	1.617270	0.03121	N	0.163765	T	0.13329	0.0323	L	0.46157	1.445	0.09310	N	1	B;B	0.24823	0.112;0.068	B;B	0.17979	0.02;0.009	T	0.16217	-1.0410	10	0.21540	T	0.41	.	1.233	0.01947	0.2229:0.3566:0.181:0.2394	.	1605;1643	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1605;1643;1605;1605	ENSP00000417502:K1605N;ENSP00000345988:K1643N;ENSP00000335469:K1605N;ENSP00000412977:K1605N	ENSP00000335469:K1605N	K	-	3	2	PLCH1	156681604	.	.	0.000000	0.03702	0.278000	0.26855	.	.	-1.550000	0.01708	-0.256000	0.11100	AAA		0.562	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		A	155198910	T	A	155198910	3	1	153	1	0	0	0	0	1	0	0	0	12037	1606	56	5	156	5	PLCH1	3	155198910	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	14192687	155198910	42823520	36	10626											
MECOM	2122	broad.mit.edu	37	chr3	168834168	168834168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcctgtggtacaagcCggaaggaaacagaccaggga	14	3	16	8	1	0	1	0	0	0	1	0	5	0	5	3	6	3	1	3	6	4	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:168834168C>T	ENST00000464456.1	-	7	2128	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	MECOM_ENST00000433243.2_Missense_Mutation_p.G311S|MECOM_ENST00000468789.1_Missense_Mutation_p.G310S|MECOM_ENST00000264674.3_Missense_Mutation_p.G375S|MECOM_ENST00000472280.1_Missense_Mutation_p.G311S|MECOM_ENST00000392736.3_Missense_Mutation_p.G310S|MECOM_ENST00000460814.1_Missense_Mutation_p.G310S|MECOM_ENST00000494292.1_Missense_Mutation_p.G498S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTACAAGCCGGAAGGAAAC	0.473																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1492-1494)Ggc>Agc		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							309	273	285					3																	168834168		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834168C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.928G>A	3.37:g.168834168C>T	ENSP00000419770:p.Gly310Ser					MECOM_uc010hwk.1_Missense_Mutation_p.G333S|MECOM_uc003ffj.3_Missense_Mutation_p.G375S|MECOM_uc003ffi.3_Missense_Mutation_p.G310S|MECOM_uc011bpi.1_Missense_Mutation_p.G311S|MECOM_uc003ffn.3_Missense_Mutation_p.G310S|MECOM_uc003ffk.2_Missense_Mutation_p.G310S|MECOM_uc003ffl.2_Missense_Mutation_p.G470S|MECOM_uc011bpk.1_Missense_Mutation_p.G310S|MECOM_uc010hwn.2_Missense_Mutation_p.G498S	p.G498S	NM_004991	NP_004982	Q13465	MDS1_HUMAN			7	1895	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1492G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159814	0.09287	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04406	3.67;3.67;3.63;3.78;3.63;3.67;3.64;3.78	5.93	5.93	0.95920	.	0.245923	0.36200	N	0.002739	T	0.02649	0.0080	N	0.01761	-0.735	0.53005	D	0.999962	D;P;P;P;P	0.60575	0.988;0.855;0.907;0.855;0.944	P;B;B;B;B	0.48552	0.581;0.201;0.261;0.201;0.158	T	0.54234	-0.8324	10	0.02654	T	1	-11.4532	13.5241	0.61584	0.0:0.9291:0.0:0.0709	.	498;311;498;375;310	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	375;310;310;311;498;310;310;311	ENSP00000264674:G375S;ENSP00000376493:G310S;ENSP00000419770:G310S;ENSP00000420048:G311S;ENSP00000417899:G498S;ENSP00000419995:G310S;ENSP00000420466:G310S;ENSP00000394302:G311S	ENSP00000264674:G375S	G	-	1	0	MECOM	170316862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.823000	0.55715	2.805000	0.96524	0.655000	0.94253	GGC		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		T	168834168	C	T	168834168	3	4	153	1	0	0	0	0	1	0	0	0	9422	652	23	2	2267	2	MECOM	3	168834168	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13635258	168834168	29188262	37	10627											
PIK3CA	5290	broad.mit.edu	37	chr3	178928108	178928127	+	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG	-																															ctgaaccctattggtgttacTggatcaaatccaaataaagt																								rs372316575		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	ENST00000263967.3	+	8	1543_1561	c.1386_1404delTGGATCAAATCCAAATAAAG	c.(1384-1404)actggatcaaatccaaataaa>ac	p.TGSNPNK462fs		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	462	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P466S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT	0.332		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1	Substitution - Missense(1)	p.P466S(1)	NS(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e8+1		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.																																				SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1404+1TGGATCAAATCCAAATAAAG>-	3.37:g.178928108_178928127delTGGATCAAATCCAAATAAAG		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K468_splice	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1561	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		468			C2 PI3K-type.		Q14CW1|Q99762	Splice_Site	DEL	ENST00000263967.3	37	c.1404_splice	CCDS43171.1																																																																																				0.332	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Frame_Shift_Del	-	178928127	TGGATCAAATCCAAATAAAG	-	178928108	8	5	153	1	0	1	0	1	0	0	1	0	11913	1567	55	0	1412	0	PIK3CA	3	178928108	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TCGA-19-1790-01B-01D-1353-08	10093940	178928108	19094322	38	10628											
HRG	3273	broad.mit.edu	37	chr3	186394875	186394875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaccgcctcatttgggaCatcccttccactggggtggg	5	11	13	12	1	1	0	1	0	0	0	3	1	3	1	4	4	1	1	4	4	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:186394875C>A	ENST00000232003.4	+	7	861	c.781C>A	c.(781-783)Cat>Aat	p.H261N		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	261					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCATTTGGGACATCCCTTCCA	0.468																																						uc003fqq.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(781-783)Cat>Aat		Homo sapiens histidine-rich glycoprotein (HRG), mRNA.							175	150	159					3																	186394875		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186394875C>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.781C>A	3.37:g.186394875C>A	ENSP00000232003:p.His261Asn						p.H261N	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	6	804	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		261					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.781C>A	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601360	0.13939	.	.	ENSG00000113905	ENST00000232003	T	0.19532	2.14	4.57	2.74	0.32292	.	0.568557	0.15895	N	0.239364	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B	0.33694	0.421	B	0.32533	0.147	T	0.25433	-1.0132	10	0.13470	T	0.59	-0.0031	6.0267	0.19658	0.1847:0.7172:0.0:0.0981	.	261	P04196	HRG_HUMAN	N	261	ENSP00000232003:H261N	ENSP00000232003:H261N	H	+	1	0	HRG	187877569	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.318000	0.19504	0.648000	0.30732	-0.263000	0.10527	CAT		0.468	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		A	186394875	C	A	186394875	3	1	153	1	0	0	0	0	1	0	0	0	7354	478	17	5	807	5	HRG	3	186394875	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	7466767	186394875	11627555	39	10629											
TNK2	10188	broad.mit.edu	37	chr3	195611779	195611779	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaggtccttctccccaatGaggcaggtgaggctctgcag	7	8	13	13	1	2	2	0	2	2	0	4	2	3	2	3	4	1	4	3	4	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:195611779G>C	ENST00000333602.6	-	4	977	c.360C>G	c.(358-360)ctC>ctG	p.L120L	TNK2_ENST00000316664.3_Silent_p.L120L|TNK2_ENST00000381916.2_Silent_p.L183L|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Silent_p.L120L|TNK2_ENST00000428187.1_Silent_p.L152L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	120					cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTCCCCAATGAGGCAGGTGA	0.672																																						uc003fvu.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(358-360)ctC>ctG		Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						38	39	39					3																	195611779		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195611779G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.360C>G	3.37:g.195611779G>C						TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	p.L120L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	3	903	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	120					Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.360C>G	CCDS33928.1																																																																																				0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		C	195611779	G	C	195611779	2	2	153	1	0	0	0	0	0	0	0	1	16315	1277	45	5		5	TNK2	3	195611779	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	9216904	195611779	2410651	40	10630											
FGFR3	2261	broad.mit.edu	37	chr4	1807639	1807639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctaccaggtggcccGgggcatggagtacttggcct	5	9	15	12	1	0	0	0	0	0	0	0	1	0	1	4	6	3	2	4	6	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1807639G>A	ENST00000260795.2	+	12	1910	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	FGFR3_ENST00000440486.2_Missense_Mutation_p.R603Q|FGFR3_ENST00000412135.2_Missense_Mutation_p.R491Q|FGFR3_ENST00000481110.2_Missense_Mutation_p.R604Q|FGFR3_ENST00000340107.4_Missense_Mutation_p.R605Q|FGFR3_ENST00000352904.1_Missense_Mutation_p.R491Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	603	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CAGGTGGCCCGGGGCATGGAG	0.692		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0		p.R603R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1807-1809)cGg>cAg		Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	Palifermin(DB00039)						43	51	48					4																	1807639		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807639G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1808G>A	4.37:g.1807639G>A	ENSP00000260795:p.Arg603Gln					FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	p.R603Q	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		12	2064	+		Breast(71;0.212)|all_epithelial(65;0.241)	603			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1808G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.065387	0.76187	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.18	4.18	0.49190	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	N	0.05534	-0.03	0.80722	D	1	P;D;D;D	0.89917	0.917;0.999;1.0;1.0	B;D;D;D	0.83275	0.243;0.975;0.996;0.977	D	0.87477	0.2418	10	0.87932	D	0	.	16.916	0.86152	0.0:0.0:1.0:0.0	.	605;491;603;604	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	Q	604;605;603;491;603;491	ENSP00000420533:R604Q;ENSP00000339824:R605Q;ENSP00000414914:R603Q;ENSP00000412903:R491Q;ENSP00000260795:R603Q;ENSP00000231803:R491Q	ENSP00000260795:R603Q	R	+	2	0	FGFR3	1777437	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	6.404000	0.73268	2.057000	0.61298	0.289000	0.19496	CGG		0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		A	1807639	G	A	1807639	3	1	153	1	0	0	0	0	1	0	0	0	5867	1116	39	2	2009	2	FGFR3	4	1807639	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		1807639	189346637	41	10631											
WHSC2	7469	broad.mit.edu	37	chr4	1986590	1986590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaaccacgctgggcgtGgagggaaggtagctcgtgga	8	5	20	8	4	0	0	0	0	0	0	1	4	0	4	1	6	2	3	1	6	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1986590G>A	ENST00000411638.2	-	8	996	c.981C>T	c.(979-981)tcC>tcT	p.S327S	NELFA_ENST00000542778.1_Silent_p.S192S|NELFA_ENST00000382882.3_Silent_p.S338S|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	327					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CGCTGGGCGTGGAGGGAAGGT	0.617																																						uc003gem.3																			0				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18						c.(1012-1014)tcC>tcT		Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.							89	83	85					4																	1986590		2187	4296	6483	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1986590G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.981C>T	4.37:g.1986590G>A						WHSC2_uc003gek.3_Silent_p.S64S|WHSC2_uc003gel.3_Silent_p.S252S|WHSC2_uc003gen.3_Silent_p.S192S	p.S338S	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		7	1257	-			327					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1014C>T		.	.	.	.	.	.	.	.	.	.	G	11.10	1.540397	0.27563	.	.	ENSG00000185049	ENST00000453740	.	.	.	4.96	-6.11	0.02131	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	-21.9331	4.0511	0.09796	0.5821:0.084:0.1516:0.1823	.	.	.	.	L	228	.	.	P	-	2	0	WHSC2	1956388	0.957000	0.32711	0.360000	0.25837	0.987000	0.75469	0.030000	0.13688	-1.082000	0.03101	-0.123000	0.14984	CCA		0.617	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		A	1986590	G	A	1986590	2	1	153	1	0	0	0	0	0	0	0	1	17361	1335	47	3		3	WHSC2	4	1986590	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	178951	1986590	189167686	42	10632											
CC2D2A	57545	broad.mit.edu	37	chr4	15589458	15589458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttcttgatctcctggCaggggatgaagaagaacatg	12	10	12	7	0	2	4	0	2	2	2	3	5	2	5	1	3	1	2	1	3	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:15589458C>T	ENST00000503292.1	+	33	4265	c.4085C>T	c.(4084-4086)gCa>gTa	p.A1362V	CC2D2A_ENST00000424120.1_Missense_Mutation_p.A1362V|CC2D2A_ENST00000413206.1_Missense_Mutation_p.A1362V|CC2D2A_ENST00000389652.5_Missense_Mutation_p.A1254V	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1362					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATCTCCTGGCAGGGGATGAA	0.383																																						uc010idv.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(4084-4086)gCa>gTa		Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.							90	82	85					4																	15589458		1873	4105	5978	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15589458C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4085C>T	4.37:g.15589458C>T	ENSP00000421809:p.Ala1362Val					CC2D2A_uc003gnx.3_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	p.A1362V	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			32	4330	+			1362					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4085C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918994	0.73098	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.966	D;D	0.80764	0.994;0.91	D	0.85029	0.0916	10	0.54805	T	0.06	.	20.1043	0.97884	0.0:1.0:0.0:0.0	.	1362;1254	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	V	1362;1362;1254;1254;1362;1254	ENSP00000403465:A1362V;ENSP00000398391:A1362V;ENSP00000421809:A1362V;ENSP00000374303:A1254V	ENSP00000374303:A1254V	A	+	2	0	CC2D2A	15198556	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.891000	0.63185	2.745000	0.94114	0.585000	0.79938	GCA		0.383	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		T	15589458	C	T	15589458	3	4	153	1	0	0	0	0	1	0	0	0	2728	710	25	3	4410	3	CC2D2A	4	15589458	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13602868	15589458	175564818	43	10633											
SLIT2	9353	broad.mit.edu	37	chr4	20598280	20598280	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgaacataacacttcaggTaagagatctctctctatgga	14	10	8	9	1	3	1	1	0	2	1	5	5	3	2	0	2	2	1	0	2	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:20598280T>A	ENST00000504154.1	+	32	3813		c.e32+2		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACACTTCAGGTAAGAGATCTC	0.358																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e32+2		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							52	53	53					4																	20598280		2203	4300	6503	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598280T>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3561+2T>A	4.37:g.20598280T>A						SLIT2_uc003gps.1_Splice_Site_p.Q1179_splice	p.Q1187_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN			32	3765	+			1187			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37	c.3561_splice	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834326	0.91036	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20207378	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.630000	0.83225	2.371000	0.80710	0.533000	0.62120	.		0.358	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	A	20598280	T	A	20598280	5	1	153	1	0	0	0	0	0	0	1	0	14740	1652	57	5	3689	5	SLIT2	4	20598280	Splice_Site	SNP	T	TCGA-19-1790-01B-01D-1353-08	5008822	20598280	170555996	44	10634											
EPHA5	2044	broad.mit.edu	37	chr4	66361196	66361196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctcatgggtataacTgtgaggtggacatttgccgc	8	12	12	9	1	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:66361196T>A	ENST00000273854.3	-	4	1576	c.976A>T	c.(976-978)Agt>Tgt	p.S326C	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.S326C|EPHA5_ENST00000354839.4_Missense_Mutation_p.S326C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	326	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)																												uc003hcy.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(976-978)Agt>Tgt		Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.							152	150	150					4																	66361196		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361196T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.976A>T	4.37:g.66361196T>A	ENSP00000273854:p.Ser326Cys	TSP Lung(17;0.13)				EPHA5_uc003hcx.3_Missense_Mutation_p.S257C|EPHA5_uc003hcz.3_Missense_Mutation_p.S326C|EPHA5_uc011cah.2_Missense_Mutation_p.S326C|EPHA5_uc011cai.2_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	p.S326C	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	1169	-			326			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.976A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710820	0.89112	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.80909	1.53;1.53;-1.43	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000005	D	0.91603	0.7347	M	0.89715	3.055	0.58432	D	0.999993	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.957;0.997;0.981;0.969	D	0.93161	0.6558	10	0.87932	D	0	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	326;326;326;326	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	326	ENSP00000273854:S326C;ENSP00000346899:S326C;ENSP00000427638:S326C	ENSP00000273854:S326C	S	-	1	0	EPHA5	66043791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.608000	0.82898	2.263000	0.75096	0.377000	0.23210	AGT		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		A	66361196	T	A	66361196	3	1	153	1	0	0	0	0	1	0	0	0	5170	1580	55	5	2197	5	EPHA5	4	66361196	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	45762916	66361196	124793080	45	10635											
FGB	2244	broad.mit.edu	37	chr4	155490852	155490852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggaacagccggtaatgCcctcatggatggagcatctc	11	7	12	11	1	2	1	1	0	1	1	3	4	2	4	2	4	4	2	2	4	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:155490852C>T	ENST00000302068.4	+	7	1208	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.A163V	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	382	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCGGTAATGCCCTCATGGAT	0.473																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1144-1146)gCc>gTc		Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	Sucralfate(DB00364)						151	121	131					4																	155490852		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490852C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1145C>T	4.37:g.155490852C>T	ENSP00000306099:p.Ala382Val					FGB_uc010ipv.3_Missense_Mutation_p.A323V	p.A382V	NM_005141	NP_005132	P02675	FIBB_HUMAN			6	1184	+	all_hematologic(180;0.215)	Renal(120;0.0458)	382			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1145C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491716	0.84962	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.82803	-1.65;-1.65	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.208574	0.49916	D	0.000128	D	0.93245	0.7848	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.93693	0.7009	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	365;382	B4E1D3;P02675	.;FIBB_HUMAN	V	382;365;163	ENSP00000306099:A382V;ENSP00000426757:A163V	ENSP00000306099:A382V	A	+	2	0	FGB	155710302	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.067000	0.71193	2.861000	0.98227	0.655000	0.94253	GCC		0.473	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155490852	C	T	155490852	3	4	153	1	0	0	0	0	1	0	0	0	5831	739	26	3	1171	3	FGB	4	155490852	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	89129656	155490852	35663424	46	10636											
PALLD	23022	broad.mit.edu	37	chr4	169824985	169824985	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagatctcgatgggacCtgctccctccataccacagc	11	7	8	15	1	1	1	0	0	1	1	4	4	3	2	4	1	3	1	4	1	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:169824985C>A	ENST00000505667.1	+	15	2723	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	PALLD_ENST00000507735.1_Silent_p.T346T|PALLD_ENST00000512127.1_Silent_p.T451T|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Silent_p.T833T|PALLD_ENST00000335742.7_Silent_p.T675T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1057	Interaction with ACTN.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCGATGGGACCTGCTCCCTCC	0.438									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2548-2550)acC>acA		Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.							114	112	113					4																	169824985		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169824985C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2550C>A	4.37:g.169824985C>A						CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.T833T|PALLD_uc003irv.3_Silent_p.T451T|PALLD_uc003irw.3_Silent_p.T346T|PALLD_uc003irx.3_Silent_p.T59T	p.T850T	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	14	2761	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1057			Interaction with ACTN.|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.2550C>A	CCDS54818.1																																																																																				0.438	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169824985	C	A	169824985	2	1	153	1	0	0	0	0	0	0	0	1	11407	668	24	5		5	PALLD	4	169824985	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	14334133	169824985	21329291	47	10637											
ADAMTS16	170690	broad.mit.edu	37	chr5	5200249	5200249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctctctctcatagctttGgcatgattcatgatggagaa	9	15	8	9	0	4	3	2	2	3	1	7	4	4	3	0	2	1	2	0	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:5200249G>T	ENST00000274181.7	+	9	1456	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.G440C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	440	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						tcATAGCTTTGGCATGATTCA	0.438																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1318-1320)Ggc>Tgc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							40	40	40					5																	5200249		1933	4132	6065	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200249G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1318G>T	5.37:g.5200249G>T	ENSP00000274181:p.Gly440Cys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	p.G440C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			8	1456	+			440			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1318G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475422	0.84640	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.99194	-5.54;-5.54	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97774	1.0228	10	0.87932	D	0	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	440;440;440	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	440	ENSP00000274181:G440C;ENSP00000421631:G440C	ENSP00000274181:G440C	G	+	1	0	ADAMTS16	5253249	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.122000	0.94380	2.535000	0.85469	0.655000	0.94253	GGC		0.438	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5200249	G	T	5200249	3	4	153	1	0	0	0	0	1	0	0	0	261	1348	47	5	1352	5	ADAMTS16	5	5200249	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		5200249	175715011	48	10638											
CDH18	1016	broad.mit.edu	37	chr5	19503108	19503108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatatgttcaccttcattGtccttcagagtgaagtttgg	9	17	8	7	0	3	2	3	1	0	1	4	2	4	2	2	1	0	2	2	1	4	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:19503108G>C	ENST00000507958.1	-	13	2613	c.1623C>G	c.(1621-1623)gaC>gaG	p.D541E	CDH18_ENST00000506372.1_Missense_Mutation_p.D541E|CDH18_ENST00000382275.1_Missense_Mutation_p.D541E|CDH18_ENST00000511273.1_Missense_Mutation_p.D541E|CDH18_ENST00000274170.4_Missense_Mutation_p.D541E|CDH18_ENST00000502796.1_Missense_Mutation_p.D541E			Q13634	CAD18_HUMAN	cadherin 18, type 2	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCTTCATTGTCCTTCAGAG	0.353																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1621-1623)gaC>gaG		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							110	102	105					5																	19503108		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503108G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1623C>G	5.37:g.19503108G>C	ENSP00000425093:p.Asp541Glu					CDH18_uc011cnm.2_Missense_Mutation_p.D541E|CDH18_uc003jgc.3_Missense_Mutation_p.D541E|CDH18_uc021xwu.1_Missense_Mutation_p.D541E	p.D541E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			10	2157	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		541			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1623C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476901	0.63849	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.60299	0.82;0.82;0.82;0.24;0.2;2.15	5.18	3.4	0.38934	Cadherin (4);Cadherin-like (1);	0.049959	0.85682	D	0.000000	T	0.64080	0.2566	L	0.56340	1.77	0.36541	D	0.871282	P;D	0.56521	0.903;0.976	P;P	0.62089	0.459;0.898	T	0.66830	-0.5824	9	.	.	.	.	7.3396	0.26630	0.3342:0.0:0.6658:0.0	.	541;541	B4DHG6;Q13634	.;CAD18_HUMAN	E	541	ENSP00000371710:D541E;ENSP00000425093:D541E;ENSP00000274170:D541E;ENSP00000424931:D541E;ENSP00000422138:D541E;ENSP00000425854:D541E	.	D	-	3	2	CDH18	19538865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.637000	0.54324	0.698000	0.31739	-0.142000	0.14014	GAC		0.353	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		C	19503108	G	C	19503108	3	2	153	1	0	0	0	0	1	0	0	0	3103	1368	48	5	761	5	CDH18	5	19503108	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	14302859	19503108	161412152	49	10639											
PRDM9	56979	broad.mit.edu	37	chr5	23522791	23522791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccccctacatttgtaaagGacagtgcagtggacaagggg	11	7	14	9	0	0	0	0	0	0	0	0	2	0	2	2	5	2	2	2	5	4	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:23522791G>T	ENST00000296682.3	+	8	861	c.679G>T	c.(679-681)Gac>Tac	p.D227Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	227					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATTTGTAAAGGACAGTGCAGT	0.552										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(679-681)Gac>Tac		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							52	51	51					5																	23522791		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522791G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.679G>T	5.37:g.23522791G>T	ENSP00000296682:p.Asp227Tyr	HNSCC(3;0.000094)					p.D227Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	861	+			227					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.679G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705171	0.68615	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.56611	0.45	4.28	4.28	0.50868	.	0.000000	0.36134	N	0.002767	T	0.75817	0.3901	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.81328	-0.0982	10	0.87932	D	0	-39.3078	12.6273	0.56636	0.0:0.0:1.0:0.0	.	227	Q9NQV7	PRDM9_HUMAN	Y	227;21	ENSP00000296682:D227Y	ENSP00000253473:D21Y	D	+	1	0	PRDM9	23558548	1.000000	0.71417	0.273000	0.24645	0.821000	0.46438	4.535000	0.60629	2.095000	0.63458	0.597000	0.82753	GAC		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23522791	G	T	23522791	3	4	153	1	0	0	0	0	1	0	0	0	12463	1174	41	5	705	5	PRDM9	5	23522791	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4019683	23522791	157392469	50	10640											
NIPBL	25836	broad.mit.edu	37	chr5	37064646	37064646	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtcattgagaaggtcaaaAcgaaattcagactctacgga	16	9	9	7	2	4	2	3	1	1	2	4	5	4	3	0	2	2	0	0	2	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:37064646A>G	ENST00000282516.8	+	47	8566	c.8067A>G	c.(8065-8067)aaA>aaG	p.K2689K		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2689					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAGGTCAAAACGAAATTCAG	0.378																																						uc003jkl.4																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8065-8067)aaA>aaG		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							86	85	85					5																	37064646		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064646A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8067A>G	5.37:g.37064646A>G						NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	p.K2689K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		46	8566	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2689					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.8067A>G	CCDS3920.1																																																																																				0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37064646	A	G	37064646	2	3	153	1	0	0	0	0	0	0	0	1	10428	40	2	4		4	NIPBL	5	37064646	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	13541855	37064646	143850614	51	10641											
C9	735	broad.mit.edu	37	chr5	39288825	39288825	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaataaattgtcctcacCttcagaaattttttgtttac	13	17	3	8	0	3	1	3	0	0	1	4	1	4	1	2	0	1	1	2	0	5	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:39288825C>A	ENST00000263408.4	-	10	1740	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	549					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTGTCCTCACCTTCAGAAATT	0.333																																						uc003jlv.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e10+1		Homo sapiens complement component 9 (C9), mRNA.							89	86	87					5																	39288825		2203	4299	6502	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39288825C>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1645+1G>T	5.37:g.39288825C>A							p.G549_splice	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		10	1734	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	549						Nonsense_Mutation	SNP	ENST00000263408.4	37	c.1645_splice	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295859	0.81025	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.79	4.92	0.64577	.	1.892250	0.03467	N	0.213024	.	.	.	.	.	.	0.40414	D	0.979776	.	.	.	.	.	.	.	.	.	.	.	.	.	17.256	9.4417	0.38673	0.1444:0.784:0.0:0.0716	.	.	.	.	X	549	.	.	G	-	1	0	C9	39324582	1.000000	0.71417	0.965000	0.40720	0.027000	0.11550	3.299000	0.51826	1.442000	0.47568	0.655000	0.94253	GGA		0.333	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Nonsense_Mutation	A	39288825	C	A	39288825	5	1	153	1	0	0	0	0	0	0	1	0	2443	695	24	5	42	5	C9	5	39288825	Splice_Site	SNP	C	TCGA-19-1790-01B-01D-1353-08	2224179	39288825	141626435	52	10642											
C5orf35	133383	broad.mit.edu	37	chr5	56207282	56207282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtgttgcccaagcaactAgctcattgatttctgctgga	9	13	9	10	0	3	1	2	1	1	0	3	2	3	2	1	1	5	4	1	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:56207282A>G	ENST00000285947.2	+	2	771	c.385A>G	c.(385-387)Agc>Ggc	p.S129G	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Missense_Mutation_p.S129G|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	129	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										CCAAGCAACTAGCTCATTGAT	0.403																																						uc003jqx.3																			0											c.(385-387)Agc>Ggc		Homo sapiens chromosome 5 open reading frame 35 (C5orf35), transcript variant 1, mRNA.							100	103	102					5																	56207282		2203	4300	6503	SO:0001583	missense	133383							g.chr5:56207282A>G	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.385A>G	5.37:g.56207282A>G	ENSP00000285947:p.Ser129Gly					SETD9_uc021xyu.1_Missense_Mutation_p.S129G	p.S129G	NM_153706	NP_714917	Q8NE22	CE035_HUMAN			1	771	+			129					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.385A>G	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999751	0.74818	.	.	ENSG00000155542	ENST00000285947;ENST00000541720	T;T	0.45668	0.89;1.06	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.79123	2.44	0.53688	D	0.999979	D	0.89917	1.0	D	0.70227	0.968	T	0.67360	-0.5690	10	0.48119	T	0.1	1.7246	15.0363	0.71751	1.0:0.0:0.0:0.0	.	129	Q8NE22	CE035_HUMAN	G	129	ENSP00000285947:S129G;ENSP00000442886:S129G	ENSP00000285947:S129G	S	+	1	0	C5orf35	56243039	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.457000	0.90361	1.969000	0.57287	0.533000	0.62120	AGC		0.403	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		G	56207282	A	G	56207282	3	3	153	1	0	0	0	0	1	0	0	0	2294	420	15	4	391	4	C5orf35	5	56207282	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	16918457	56207282	124707978	53	10643											
MTX3	345778	broad.mit.edu	37	chr5	79279592	79279592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttccgaggaggaagctgaGggctttggcgaagattgtca	9	10	16	6	2	1	2	1	1	0	1	2	6	2	4	1	4	1	3	1	4	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:79279592G>A	ENST00000512528.1	-	9	874	c.854C>T	c.(853-855)cCt>cTt	p.P285L	MTX3_ENST00000512560.1_Missense_Mutation_p.P224L|MTX3_ENST00000509852.1_3'UTR			Q5HYI7	MTX3_HUMAN	metaxin 3	285					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGGAAGCTGAGGGCTTTGGCG	0.463																																						uc010jag.3																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7						c.(853-855)cCt>cTt		Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.							123	124	124					5																	79279592		2021	4180	6201	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79279592G>A	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.854C>T	5.37:g.79279592G>A	ENSP00000424798:p.Pro285Leu					MTX3_uc010jah.3_3'UTR|MTX3_uc003kge.4_Missense_Mutation_p.P224L	p.P285L	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	8	881	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	285					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.854C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.061444	0.93846	.	.	ENSG00000177034	ENST00000512560;ENST00000512528	T;T	0.66638	-0.22;0.05	6.06	6.06	0.98353	.	.	.	.	.	T	0.76772	0.4034	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76908	-0.2785	9	0.66056	D	0.02	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	285	Q5HYI7	MTX3_HUMAN	L	224;285	ENSP00000423600:P224L;ENSP00000424798:P285L	ENSP00000424798:P285L	P	-	2	0	MTX3	79315348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.556000	0.90697	2.879000	0.98667	0.650000	0.86243	CCT		0.463	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		A	79279592	G	A	79279592	3	1	153	1	0	0	0	0	1	0	0	0	9969	1000	35	3	88	3	MTX3	5	79279592	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	23072310	79279592	101635668	54	10644											
SLC23A1	9963	broad.mit.edu	37	chr5	138716553	138716553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccagaaatgcaaaggCactggcctggaacagcggca	14	4	13	10	1	0	1	0	0	0	1	0	3	0	3	2	5	4	3	2	5	4	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:138716553C>A	ENST00000348729.3	-	4	377	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Missense_Mutation_p.A111S	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	111					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AATGCAAAGGCACTGGCCTGG	0.602																																						uc003leg.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(331-333)Gcc>Tcc		Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	Vitamin C(DB00126)						14	14	14					5																	138716553		2196	4297	6493	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138716553C>A	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.331G>T	5.37:g.138716553C>A	ENSP00000302701:p.Ala111Ser					SLC23A1_uc003leh.3_Missense_Mutation_p.A111S	p.A111S	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	428	-			111					O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.331G>T	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670821	0.88348	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000453898	T;T	0.10477	2.87;2.87	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.13072	0.0317	N	0.10733	0.035	0.80722	D	1	D;B	0.89917	1.0;0.072	D;B	0.91635	0.999;0.076	T	0.06698	-1.0812	10	0.02654	T	1	-5.7074	16.1656	0.81754	0.0:1.0:0.0:0.0	.	111;111	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	S	111	ENSP00000302851:A111S;ENSP00000302701:A111S	ENSP00000302701:A111S	A	-	1	0	SLC23A1	138744452	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.629000	0.83207	2.677000	0.91161	0.561000	0.74099	GCC		0.602	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		A	138716553	C	A	138716553	3	1	153	1	0	0	0	0	1	0	0	0	14462	710	25	5	1521	5	SLC23A1	5	138716553	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	59436961	138716553	42198707	55	10645											
KIF4B	285643	broad.mit.edu	37	chr5	154396908	154396908	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaaccctgtctgtgccacCcccaatagcaagatcctgaa	11	10	6	14	0	1	2	0	1	1	1	2	2	2	2	5	0	3	1	5	0	5	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:154396908C>A	ENST00000435029.4	+	1	3649	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1163	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTGCCACCCCCAATAGCA	0.532																																						uc010jih.1																			0		p.A1162S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3487-3489)acC>acA		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							90	92	91					5																	154396908		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396908C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3489C>A	5.37:g.154396908C>A							p.T1163T	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3649	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1163			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3489C>A	CCDS47324.1																																																																																				0.532	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154396908	C	A	154396908	2	1	153	1	0	0	0	0	0	0	0	1	8304	610	22	5		5	KIF4B	5	154396908	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	15680355	154396908	26518352	56	10646											
C6orf146	222826	broad.mit.edu	37	chr6	4068936	4068938	+	In_Frame_Del	DEL	TTG	TTG	-																															atgaaagaaaagagttatttTtgttcaatgggtgagcagca																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:4068936_4068938delTTG	ENST00000274673.3	-	7	1922_1924	c.1519_1521delCAA	c.(1519-1521)caadel	p.Q507del	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	507																	AGAGTTATTTTTGTTCAATGGGT	0.36																																						uc003mvx.3																			0											c.(1519-1521)caadel		Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.																																				SO:0001651	inframe_deletion	222826							g.chr6:4068936_4068938delTTG	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1519_1521delCAA	6.37:g.4068936_4068938delTTG	ENSP00000274673:p.Gln507del					FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_In_Frame_Del_p.Q444del	p.Q507del	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN			6	1925_1927	-			507					Q5JYK1	In_Frame_Del	DEL	ENST00000274673.3	37	c.1519_1521delCAA	CCDS4489.1																																																																																				0.36	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		-	4068938	TTG	-	4068936	7	5	153	1	0	1	0	1	0	0	0	0	2335	1838	64	0	9	0	C6orf146	6	4068936	In_Frame_Del	DEL	TTG	TCGA-19-1790-01B-01D-1353-08		4068936	167046131	57	10647											
CFB	629	broad.mit.edu	37	chr6	31915244	31915244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccctgcgtggctcccagCggcgaacgtgtcaggaaggt	7	8	14	12	4	1	0	1	0	0	0	2	2	2	1	2	4	4	1	2	4	3	1	rs537478097		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:31915244C>T	ENST00000425368.2	+	4	1117	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CFB_ENST00000456570.1_Missense_Mutation_p.R704W|CFB_ENST00000556679.1_Missense_Mutation_p.R704W|CFB_ENST00000477310.1_Missense_Mutation_p.R553W	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	202	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCAGCGGCGAACGTG	0.632													C|||	1	0.000199681	0	0	5008	,	,		19054	0		0.001	False		,,,				2504	0					uc003nyj.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(604-606)Cgg>Tgg		Homo sapiens complement factor B (CFB), mRNA.							96	92	93					6																	31915244		1509	2708	4217	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31915244C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.604C>T	6.37:g.31915244C>T	ENSP00000416561:p.Arg202Trp					CFB_uc011dor.2_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	p.R202W	NM_001710	NP_001701	P00751	CFAB_HUMAN			3	882	+			202			Sushi 3.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.604C>T	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609917	0.66558	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.17	2.06	0.26882	Complement control module (2);Sushi/SCR/CCP (3);	1.503290	0.04097	N	0.312167	T	0.64746	0.2626	M	0.74881	2.28	0.22457	N	0.999088	D;D;D	0.76494	0.999;0.979;0.999	P;P;P	0.60949	0.881;0.67;0.788	T	0.42849	-0.9427	10	0.72032	D	0.01	-1.7706	7.9687	0.30115	0.4737:0.386:0.1403:0.0	.	704;202;202	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	W	704;202;704;553	ENSP00000451848:R704W;ENSP00000416561:R202W;ENSP00000410815:R704W;ENSP00000418996:R553W	ENSP00000416561:R202W	R	+	1	2	CFB;XXbac-BPG116M5.17	32023223	0.127000	0.22367	0.964000	0.40570	0.955000	0.61496	0.836000	0.27545	0.708000	0.31955	0.655000	0.94253	CGG		0.632	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		T	31915244	C	T	31915244	3	4	153	1	0	0	0	0	1	0	0	0	3278	759	27	1	618	1	CFB	6	31915244	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	27846308	31915244	139199823	58	10648											
TAP2	5696	broad.mit.edu	37	chr6	32806007	32806007	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctcaggtcagggagccGcatggctctgtcaacggata	8	8	15	10	2	4	0	3	0	2	0	5	2	4	2	1	5	2	2	1	5	2	1	rs61736918	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:32806007G>A	ENST00000374882.3	-	0	1124				TAP2_ENST00000452392.2_Missense_Mutation_p.R2W|TAP2_ENST00000374897.2_Missense_Mutation_p.R2W|TAP2_ENST00000374899.4_Missense_Mutation_p.R2W	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCAGGGAGCCGCATGGCTCTG	0.622													G|||	27	0.00539137	0.0136	0.0086	5008	,	,		11969	0		0.003	False		,,,				2504	0				NSCLC(48;53 1172 10859 13624 22883)	uc011dqf.1																			0											c.(4-6)Cgg>Tgg		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG	38,2982		0,38,1472	40	39	40		4,4	-5.5	0	6	dbSNP_129	40	4,5414		0,4,2705	yes	missense,missense	TAP2	NM_018833.2,NM_000544.3	101,101	0,42,4177	AA,AG,GG		0.0738,1.2583,0.4977	benign,benign	2/654,2/704	32806007	42,8396	1510	2709	4219	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32806007G>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32806007G>A						TAP2_uc003ocb.1_Missense_Mutation_p.R2W|TAP2_uc003occ.3_Missense_Mutation_p.R2W|TAP2_uc003ocd.3_Missense_Mutation_p.R2W	p.R2W	NM_018833	NP_061313	Q03519	TAP2_HUMAN			1	126	-			2					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.4C>T	CCDS4757.1	6	0.0027472527472527475	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	14.02	2.410778	0.42817	0.012583	7.38E-4	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;T	0.90261	-2.64;-2.63;-0.28	4.66	-5.5	0.02576	.	.	.	.	.	T	0.74099	0.3672	L	0.54323	1.7	0.09310	N	1.0	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.58358	-0.7650	8	0.62326	D	0.03	-1.4251	5.8973	0.18947	0.1532:0.5339:0.2076:0.1052	.	2;3;2;2	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	W	2	ENSP00000364034:R2W;ENSP00000364032:R2W;ENSP00000391806:R2W	ENSP00000364032:R2W	R	-	1	2	XXbac-BPG246D15.9;TAP2	32913985	0.063000	0.20901	0.015000	0.15790	0.049000	0.14656	0.086000	0.14935	-1.158000	0.02811	-0.163000	0.13421	CGG		0.622	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		A	32806007	G	A	32806007	1	1	153	0	1	0	0	0	0	0	0	0	15548	1086	38	1		1	TAP2	6	32806007	IGR	SNP	G	TCGA-19-1790-01B-01D-1353-08	890763	32806007	138309060	59	10649											
LEMD2	221496	broad.mit.edu	37	chr6	33740529	33740529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggaactccacagctCggtcccagacacgcttcatg	10	6	10	15	2	1	1	1	0	0	1	4	2	3	2	3	3	2	2	3	3	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:33740529C>A	ENST00000293760.5	-	9	1407	c.1388G>T	c.(1387-1389)cGa>cTa	p.R463L	LEMD2_ENST00000508327.1_Missense_Mutation_p.R161L	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	463					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)		p.R463Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCCACAGCTCGGTCCCAGAC	0.627																																						uc011drm.2																			1	Substitution - Missense(1)	p.R463Q(2)	endometrium(1)	central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1387-1389)cGa>cTa		Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.							58	47	51					6																	33740529		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33740529C>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1388G>T	6.37:g.33740529C>A	ENSP00000293760:p.Arg463Leu					LEMD2_uc010jvg.3_Missense_Mutation_p.R172L|LEMD2_uc011drl.2_Missense_Mutation_p.R161L	p.R463L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN			8	1401	-			463					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1388G>T	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157815	0.94686	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.35	5.35	0.76521	Inner nuclear membrane protein MAN1 (1);	0.100494	0.43260	D	0.000590	T	0.73885	0.3644	M	0.62723	1.935	0.47441	D	0.999425	D;D	0.76494	0.999;0.979	D;D	0.76071	0.987;0.931	T	0.76353	-0.2990	9	0.72032	D	0.01	-3.5656	19.064	0.93103	0.0:1.0:0.0:0.0	.	463;424	Q8NC56;A8MS91	LEMD2_HUMAN;.	L	45;463;161	.	ENSP00000293760:R463L	R	-	2	0	LEMD2	33848507	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.223000	0.51231	2.477000	0.83638	0.563000	0.77884	CGA		0.627	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		A	33740529	C	A	33740529	3	1	153	1	0	0	0	0	1	0	0	0	8720	884	31	5	127	5	LEMD2	6	33740529	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	934522	33740529	137374538	60	10650											
PGK2	5232	broad.mit.edu	37	chr6	49754282	49754282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaagtatagccagaaaggGtctcactgggttttccaagg	12	9	11	9	0	1	1	1	0	1	1	3	1	2	1	3	3	1	2	3	3	5	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:49754282G>T	ENST00000304801.3	-	1	771	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	207					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCAGAAAGGGTCTCACTGGG	0.428																																						uc003ozu.3																			0		p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(619-621)Ccc>Acc		Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.							114	112	113					6																	49754282		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754282G>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.619C>A	6.37:g.49754282G>T	ENSP00000305995:p.Pro207Thr						p.P207T	NM_138733	NP_620061	P07205	PGK2_HUMAN			0	772	-	Lung NSC(77;0.0402)		207					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.619C>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595413	0.66219	.	.	ENSG00000170950	ENST00000304801	D	0.97688	-4.49	4.09	4.09	0.47781	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.98027	4.13	0.80722	D	1	D	0.54047	0.964	D	0.65233	0.933	D	0.98710	1.0704	10	0.87932	D	0	-13.9904	14.5839	0.68310	0.0:0.0:1.0:0.0	.	207	P07205	PGK2_HUMAN	T	207	ENSP00000305995:P207T	ENSP00000305995:P207T	P	-	1	0	PGK2	49862241	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	7.506000	0.81665	2.562000	0.86427	0.585000	0.79938	CCC		0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			T	49754282	G	T	49754282	3	4	153	1	0	0	0	0	1	0	0	0	11791	1261	44	5	638	5	PGK2	6	49754282	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	16013753	49754282	121360785	61	10651											
GOPC	57120	broad.mit.edu	37	chr6	117892118	117892118	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctttagggaatcttgatCcttattgggaggaaaaaaga	13	14	10	4	0	2	2	0	1	2	1	3	5	3	5	1	3	0	0	1	3	6	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:117892118C>A	ENST00000368498.2	-	6	892	c.817G>T	c.(817-819)Gat>Tat	p.D273Y	GOPC_ENST00000535237.1_Splice_Site_p.D273Y|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Splice_Site_p.D265Y	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	273					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GAATCTTGATCCTTATTGGGA	0.328			O	ROS1	glioblastoma																																	uc003pxu.3				Dom	yes		6	6q21	57120	T	golgi associated PDZ and coiled-coil motif containing			O	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e6-1		Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.							108	107	107					6																	117892118		2203	4297	6500	SO:0001630	splice_region_variant	57120				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117892118C>A	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.817-1G>T	6.37:g.117892118C>A						ROS1_uc003pxq.1_Splice_Site_p.D46_splice|ROS1_uc003pxv.3_Splice_Site_p.D265_splice	p.D273_splice	NM_020399	NP_065132	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	6	1071	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	0			Fibronectin type-III 2.		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.817_splice	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161705	0.57368	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.18338	2.22;2.24;2.23	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.139018	0.64402	D	0.000006	T	0.20414	0.0491	L	0.53249	1.67	0.80722	D	1	P;P;D	0.57257	0.804;0.94;0.979	B;B;P	0.53809	0.283;0.332;0.735	T	0.00305	-1.1831	10	0.87932	D	0	-7.1698	14.1845	0.65595	0.0:0.9287:0.0:0.0713	.	265;273;273	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	Y	265;273;273	ENSP00000052569:D265Y;ENSP00000357484:D273Y;ENSP00000445690:D273Y	ENSP00000052569:D265Y	D	-	1	0	GOPC	117998811	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.294000	0.65687	2.740000	0.93945	0.557000	0.71058	GAT		0.328	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399	Missense_Mutation	A	117892118	C	A	117892118	5	1	153	1	0	0	0	0	0	0	1	0	6573	869	30	5	587	5	GOPC	6	117892118	Splice_Site	SNP	C	TCGA-19-1790-01B-01D-1353-08	68137836	117892118	53222949	62	10652											
UTRN	7402	broad.mit.edu	37	chr6	145103130	145103130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaaatgaccagctccTcagtgttccagatgtcatca	13	9	7	12	0	3	2	3	1	0	1	5	3	5	2	4	0	2	2	4	0	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:145103130T>C	ENST00000367545.3	+	60	8705	c.8705T>C	c.(8704-8706)cTc>cCc	p.L2902P	UTRN_ENST00000367526.4_Missense_Mutation_p.L457P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2902	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACCAGCTCCTCAGTGTTCCA	0.403																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8704-8706)cTc>cCc		Homo sapiens utrophin (UTRN), mRNA.							123	114	117					6																	145103130		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145103130T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8705T>C	6.37:g.145103130T>C	ENSP00000356515:p.Leu2902Pro						p.L2902P	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	59	8797	+		Ovarian(120;0.218)	2902			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8705T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487139	0.84854	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.68765	-0.35;-0.35	5.62	5.62	0.85841	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.147163	0.31772	N	0.007086	T	0.67581	0.2908	M	0.72353	2.195	0.80722	D	1	P	0.36599	0.56	P	0.46208	0.507	T	0.73515	-0.3958	10	0.87932	D	0	.	15.8208	0.78644	0.0:0.0:0.0:1.0	.	2902	P46939	UTRO_HUMAN	P	2902;457	ENSP00000356515:L2902P;ENSP00000356496:L457P	ENSP00000356496:L457P	L	+	2	0	UTRN	145144823	0.978000	0.34361	0.567000	0.28434	0.989000	0.77384	6.201000	0.72124	2.142000	0.66516	0.528000	0.53228	CTC		0.403	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			C	145103130	T	C	145103130	3	2	153	1	0	0	0	0	1	0	0	0	17100	1551	54	4	8943	4	UTRN	6	145103130	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	27211012	145103130	26011937	63	10653											
ESR1	2099	broad.mit.edu	37	chr6	152163775	152163775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggtggcagagaaagattgGccagtaccaatgacaaggga	15	5	15	6	0	0	3	0	1	0	2	0	5	0	4	2	4	1	2	2	4	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:152163775G>T	ENST00000206249.3	+	2	858	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.A166S|ESR1_ENST00000338799.5_Missense_Mutation_p.A166S|ESR1_ENST00000456483.2_Missense_Mutation_p.A166S|ESR1_ENST00000443427.1_Missense_Mutation_p.A166S|ESR1_ENST00000427531.2_5'UTR	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	166	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	AGAAAGATTGGCCAGTACCAA	0.453																																						uc010kio.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(496-498)Gcc>Tcc		Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						96	84	88					6																	152163775		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163775G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.496G>T	6.37:g.152163775G>T	ENSP00000206249:p.Ala166Ser					ESR1_uc021zgx.1_Missense_Mutation_p.A166S|ESR1_uc021zgy.1_Non-coding_Transcript|ESR1_uc003qom.4_Missense_Mutation_p.A166S|ESR1_uc010kin.3_Missense_Mutation_p.A166S|ESR1_uc010kip.3_Missense_Mutation_p.A166S|ESR1_uc003qon.4_Missense_Mutation_p.A166S|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.A166S|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Non-coding_Transcript|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_5'UTR|ESR1_uc011eew.2_5'UTR|ESR1_uc011eet.2_Non-coding_Transcript|ESR1_uc010kis.3_5'UTR|ESR1_uc021zha.1_5'Flank	p.A166S	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	2	714	+		Ovarian(120;0.0448)	166			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.496G>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.317|2.317	-0.356492|-0.356492	0.05138|0.05138	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000431590|ENST00000427531	T;T;T;T;T|.	0.26223|.	1.75;1.75;1.75;1.75;1.75|.	6.05|6.05	3.24|3.24	0.37175|0.37175	.|.	0.338031|.	0.35739|.	N|.	0.003013|.	T|T	0.08935|0.08935	0.0221|0.0221	N|N	0.03084|0.03084	-0.415|-0.415	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.17979|.	0.02;0.003;0.006|.	T|T	0.10567|0.10567	-1.0624|-1.0624	10|5	0.06625|.	T|.	0.88|.	.|.	6.315|6.315	0.21186|0.21186	0.1401:0.0:0.3874:0.4724|0.1401:0.0:0.3874:0.4724	.|.	166;166;166|.	A8KAF4;G4XH65;P03372|.	.;.;ESR1_HUMAN|.	S|C	166;166;166;166;166;94|70	ENSP00000405330:A166S;ENSP00000342630:A166S;ENSP00000415934:A166S;ENSP00000387500:A166S;ENSP00000206249:A166S|.	ENSP00000206249:A166S|.	A|W	+|+	1|3	0|0	ESR1|ESR1	152205468|152205468	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.871000|0.871000	0.50021|0.50021	0.724000|0.724000	0.25954|0.25954	0.405000|0.405000	0.25532|0.25532	-0.188000|-0.188000	0.12872|0.12872	GCC|TGG		0.453	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			T	152163775	G	T	152163775	3	4	153	1	0	0	0	0	1	0	0	0	5256	1203	42	5	502	5	ESR1	6	152163775	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	7060645	152163775	18951292	64	10654											
TIAM2	26230	broad.mit.edu	37	chr6	155451173	155451173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctggcccccggcatGcctgaccccagtctccatgc	4	9	8	20	1	1	1	0	1	1	0	4	1	3	1	8	2	2	1	8	2	0	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:155451173G>T	ENST00000461783.3	+	6	2089	c.816G>T	c.(814-816)atG>atT	p.M272I	TIAM2_ENST00000456144.1_Missense_Mutation_p.M272I|TIAM2_ENST00000529824.2_Missense_Mutation_p.M272I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M272I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M272I|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	272					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCCCGGCATGCCTGACCCCA	0.597																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(814-816)atG>atT		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							57	56	56					6																	155451173		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451173G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.816G>T	6.37:g.155451173G>T	ENSP00000437188:p.Met272Ile					TIAM2_uc003qqe.3_Missense_Mutation_p.M272I	p.M272I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	5	2089	+		Ovarian(120;0.196)	272					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.816G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	6.714	0.500352	0.12762	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04654	3.69;3.58;3.64;3.69;3.69;3.64	5.09	-3.89	0.04193	.	0.351156	0.28343	N	0.015692	T	0.00637	0.0021	N	0.14661	0.345	0.21802	N	0.99953	B	0.10296	0.003	B	0.11329	0.006	T	0.44406	-0.9330	10	0.30078	T	0.28	.	2.2582	0.04060	0.167:0.3956:0.1591:0.2783	.	272	Q8IVF5	TIAM2_HUMAN	I	272;518;272;272;272;272;272	ENSP00000437188:M272I;ENSP00000434901:M272I;ENSP00000407746:M272I;ENSP00000327315:M272I;ENSP00000353528:M272I;ENSP00000433348:M272I	ENSP00000327315:M272I	M	+	3	0	TIAM2	155492865	0.011000	0.17503	0.000000	0.03702	0.067000	0.16453	-0.731000	0.04909	-0.618000	0.05656	-0.137000	0.14449	ATG		0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155451173	G	T	155451173	3	4	153	1	0	0	0	0	1	0	0	0	15888	1319	46	5	818	5	TIAM2	6	155451173	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3287398	155451173	15663894	65	10655											
IGF2R	3482	broad.mit.edu	37	chr6	160445736	160445736	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtttgtagagacataGgtatgaatctttgtggggct	10	15	12	4	0	2	2	1	1	1	1	2	3	2	2	0	3	0	4	0	3	5	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:160445736G>T	ENST00000356956.1	+	5	794	c.646G>T	c.(646-648)Gac>Tac	p.D216Y		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	216					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGAGACATAGGTATGAATCT	0.438																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.e5+1		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							118	107	111					6																	160445736		2203	4300	6503	SO:0001630	splice_region_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160445736G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.646+1G>T	6.37:g.160445736G>T							p.D216_splice	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	5	794	+		Breast(66;0.000777)|Ovarian(120;0.0305)	216					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.646_splice	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700523	0.68501	.	.	ENSG00000197081	ENST00000356956	T	0.02085	4.46	5.62	5.62	0.85841	Mannose-6-phosphate receptor, binding (1);	0.412810	0.30464	N	0.009562	T	0.06005	0.0156	M	0.78223	2.4	0.50813	D	0.999896	P	0.48503	0.911	P	0.52267	0.694	T	0.11717	-1.0576	10	0.56958	D	0.05	-4.0139	19.6574	0.95849	0.0:0.0:1.0:0.0	.	216	P11717	MPRI_HUMAN	Y	216	ENSP00000349437:D216Y	ENSP00000349437:D216Y	D	+	1	0	IGF2R	160365726	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.372000	0.66156	2.645000	0.89757	0.462000	0.41574	GAC		0.438	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	Missense_Mutation	T	160445736	G	T	160445736	5	4	153	1	0	0	0	0	0	0	1	0	7576	1014	35	5	664	5	IGF2R	6	160445736	Splice_Site	SNP	G	TCGA-19-1790-01B-01D-1353-08	4994563	160445736	10669331	66	10656											
KIAA0415	9907	broad.mit.edu	37	chr7	4830771	4830771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttattgctgtcaaagatgAggaccctggctcacagtcca	10	11	9	11	0	2	2	2	1	0	1	3	3	3	3	2	2	1	2	2	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:4830771A>G	ENST00000348624.4	+	17	2273	c.2179A>G	c.(2179-2181)Agg>Ggg	p.R727G	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	727					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTCAAAGATGAGGACCCTGGC	0.637																																						uc003sne.3																			0											c.(2179-2181)Agg>Ggg		Homo sapiens KIAA0415 (KIAA0415), mRNA.							29	37	34					7																	4830771		2065	4213	6278	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830771A>G	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2179A>G	7.37:g.4830771A>G	ENSP00000297562:p.Arg727Gly					AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Missense_Mutation_p.R204G|MIR4656_uc021zzb.1_5'Flank	p.R727G	NM_014855	NP_055670	O43299	K0415_HUMAN			16	2264	+			727					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2179A>G	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685380	0.68157	.	.	ENSG00000242802	ENST00000348624	T	0.64803	-0.12	5.26	2.77	0.32553	Armadillo-like helical (1);	.	.	.	.	T	0.76891	0.4051	M	0.77820	2.39	0.80722	D	1	D;P	0.89917	1.0;0.824	D;P	0.83275	0.996;0.473	T	0.76130	-0.3072	9	0.56958	D	0.05	.	11.526	0.50580	0.5335:0.4664:0.0:0.0	.	1438;727	A4D1Z4;O43299	.;K0415_HUMAN	G	727	ENSP00000297562:R727G	ENSP00000297562:R727G	R	+	1	2	KIAA0415	4797297	1.000000	0.71417	0.969000	0.41365	0.808000	0.45660	1.519000	0.35888	0.270000	0.21984	0.523000	0.50628	AGG		0.637	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			G	4830771	A	G	4830771	3	3	153	1	0	0	0	0	1	0	0	0	8175	295	11	4	2245	4	KIAA0415	7	4830771	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		4830771	154307892	67	10657											
STARD3NL	83930	broad.mit.edu	37	chr7	38254036	38254039	+	Splice_Site	DEL	GTAA	GTAA	-																															cttcatattttgatatatttGtaagtattttttatgtttca																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38254036_38254039delGTAA	ENST00000009041.7	+	3	560		c.e3+1		STARD3NL_ENST00000544203.1_Splice_Site|STARD3NL_ENST00000396013.1_Splice_Site|STARD3NL_ENST00000434197.1_Splice_Site	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like							endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGATATATTTGTAAGTATTTTTTA	0.338																																						uc003tfr.3																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.e3+1		Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.																																				SO:0001630	splice_region_variant	83930					integral to membrane|late endosome membrane		g.chr7:38254036_38254039delGTAA	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.303+1GTAA>-	7.37:g.38254036_38254039delGTAA							p.F101_splice	NM_032016	NP_114405	O95772	MENTO_HUMAN			3	576	+			101			MENTAL.		A4D1X0	Splice_Site	DEL	ENST00000009041.7	37	c.303_splice	CCDS5455.1																																																																																				0.338	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2		Intron	-	38254039	GTAA	-	38254036	8	5	153	1	0	1	0	1	0	0	1	0	15257	1391	48	0	310	0	STARD3NL	7	38254036	Splice_Site	DEL	GTAA	TCGA-19-1790-01B-01D-1353-08	33423265	38254036	120884627	68	10658											
AMPH	273	broad.mit.edu	37	chr7	38516553	38516553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccactagcttcctgctgCgcttggcgatgcgattctgt	5	13	11	12	3	1	0	0	0	1	0	3	2	3	0	2	1	4	3	2	1	1	4	rs375161752		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38516553C>T	ENST00000356264.2	-	6	628	c.413G>A	c.(412-414)cGc>cAc	p.R138H	AMPH_ENST00000428293.2_Missense_Mutation_p.R138H|AMPH_ENST00000325590.5_Missense_Mutation_p.R138H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	138	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTGCTGCGCTTGGCGAT	0.502																																						uc003tgu.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(412-414)cGc>cAc		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	116	100	106		413,413	5.5	1	7		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	138/696,138/654	38516553	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38516553C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.413G>A	7.37:g.38516553C>T	ENSP00000348602:p.Arg138His					AMPH_uc003tgv.3_Missense_Mutation_p.R138H	p.R138H	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	629	-			138			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.413G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990896	0.93106	0.0	1.16E-4	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.71222	-0.55;-0.55;-0.55	5.52	5.52	0.82312	BAR (3);	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87679	0.2546	10	0.72032	D	0.01	-12.9834	18.5675	0.91121	0.0:1.0:0.0:0.0	.	138;138	P49418-2;P49418	.;AMPH_HUMAN	H	138	ENSP00000317441:R138H;ENSP00000348602:R138H;ENSP00000390734:R138H	ENSP00000317441:R138H	R	-	2	0	AMPH	38483078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.790000	0.75115	2.757000	0.94681	0.585000	0.79938	CGC		0.502	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38516553	C	T	38516553	3	4	153	1	0	0	0	0	1	0	0	0	588	768	27	1	1738	1	AMPH	7	38516553	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	262517	38516553	120622110	69	10659											
C7orf25	79020	broad.mit.edu	37	chr7	42949845	42949845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactctggtcacctgcaaaaGttcagggccctcatcatctg	10	10	8	13	0	6	0	4	0	2	0	6	0	6	0	2	2	2	2	2	2	3	1	rs372947878		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:42949845G>C	ENST00000350427.4	-	2	930	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V	C7orf25_ENST00000438029.1_Missense_Mutation_p.L219V|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.L219V|C7orf25_ENST00000431882.2_Missense_Mutation_p.L277V			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	219										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACCTGCAAAAGTTCAGGGCCC	0.438																																						uc003thx.4																			0		p.L276F(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(829-831)Ctt>Gtt		Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.		G	VAL/LEU,VAL/LEU	0,4406		0,0,2203	70	70	70		829,655	3.7	1	7		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf25	NM_001099858.1,NM_024054.2	32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	277/480,219/422	42949845	1,13005	2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949845G>C	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.655C>G	7.37:g.42949845G>C	ENSP00000343364:p.Leu219Val					C7orf25_uc010kxq.3_Missense_Mutation_p.L219V|C7orf25_uc010kxr.3_Missense_Mutation_p.L277V|C7orf25_uc022ace.1_Missense_Mutation_p.L219V	p.L277V	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN			1	1314	-			219					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.829C>G	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261809	0.10239	0.0	1.16E-4	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.65	3.74	0.42951	.	0.492077	0.17650	N	0.166713	T	0.22475	0.0542	N	0.12182	0.205	0.26548	N	0.97396	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.11012	-1.0605	10	0.29301	T	0.29	-1.7145	7.6435	0.28307	0.1912:0.1291:0.6798:0.0	.	277;219	B4DQM3;Q9BPX7	.;CG025_HUMAN	V	219;219;277;219	ENSP00000343364:L219V;ENSP00000413029:L219V;ENSP00000416290:L277V;ENSP00000396597:L219V	ENSP00000343364:L219V	L	-	1	0	C7orf25	42916370	0.011000	0.17503	1.000000	0.80357	0.951000	0.60555	1.094000	0.30951	1.407000	0.46875	0.556000	0.70494	CTT		0.438	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		C	42949845	G	C	42949845	3	2	153	1	0	0	0	0	1	0	0	0	2380	1029	36	5	614	5	C7orf25	7	42949845	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4433292	42949845	116188818	70	10660											
ADCY1	107	broad.mit.edu	37	chr7	45632382	45632382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgccttgctcttcGtcggtgtgaacatgtatggg	6	13	13	9	2	1	1	0	1	1	0	3	1	1	1	2	2	4	2	2	2	3	3	rs369079165		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:45632382G>A	ENST00000297323.7	+	2	686	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	222					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTGCTCTTCGTCGGTGTGAA	0.592																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(664-666)Gtc>Atc		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						237	193	208					7																	45632382		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45632382G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.664G>A	7.37:g.45632382G>A	ENSP00000297323:p.Val222Ile					ADCY1_uc003tnd.3_5'UTR	p.V222I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			1	682	+			222					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.664G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	2.139	-0.397205	0.04899	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.78246	-1.16	5.06	2.12	0.27331	.	0.473604	0.21911	N	0.067318	T	0.62282	0.2415	L	0.33485	1.01	0.28250	N	0.9253	B	0.18166	0.026	B	0.12837	0.008	T	0.46512	-0.9186	10	0.19147	T	0.46	.	7.8718	0.29571	0.0:0.1712:0.5411:0.2877	.	222	Q08828	ADCY1_HUMAN	I	222	ENSP00000297323:V222I	ENSP00000297323:V222I	V	+	1	0	ADCY1	45598907	1.000000	0.71417	0.107000	0.21349	0.233000	0.25261	1.300000	0.33436	0.111000	0.17947	-0.516000	0.04426	GTC		0.592	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45632382	G	A	45632382	3	1	153	1	0	0	0	0	1	0	0	0	292	1145	40	1	670	1	ADCY1	7	45632382	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2682537	45632382	113506281	71	10661											
TNS3	64759	broad.mit.edu	37	chr7	47408183	47408183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagggtgggcgagcctgggGaggggcctgtgctcagctct	4	7	19	11	1	2	0	1	0	1	0	2	2	2	1	3	6	3	2	3	6	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:47408183G>A	ENST00000398879.1	-	17	2426	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TNS3_ENST00000311160.9_Missense_Mutation_p.S687F|TNS3_ENST00000355730.3_Missense_Mutation_p.S447F			Q68CZ2	TENS3_HUMAN	tensin 3	687					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGAGCCTGGGGAGGGGCCTGT	0.622																																						uc003tnw.3																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2059-2061)tCc>tTc		Homo sapiens tensin 3 (TNS3), mRNA.							143	164	157					7																	47408183		2057	4200	6257	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408183G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2060C>T	7.37:g.47408183G>A	ENSP00000381854:p.Ser687Phe					TNS3_uc022acn.1_Missense_Mutation_p.S244F	p.S687F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			16	2418	-			687					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2060C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.197319	0.01594	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93307	-2.83;-2.83;-3.2;-2.92	5.15	2.92	0.33932	.	2.101730	0.01565	N	0.020291	D	0.89966	0.6868	L	0.54323	1.7	0.09310	N	1	B	0.31125	0.309	B	0.24541	0.054	T	0.75816	-0.3184	10	0.09843	T	0.71	-18.5632	7.839	0.29387	0.2473:0.0:0.7527:0.0	.	687	Q68CZ2	TENS3_HUMAN	F	687;797;687;447;143;790	ENSP00000312143:S687F;ENSP00000381854:S687F;ENSP00000347968:S447F;ENSP00000414358:S790F	ENSP00000312143:S687F	S	-	2	0	TNS3	47374708	0.013000	0.17824	0.150000	0.22450	0.295000	0.27426	2.137000	0.42130	1.281000	0.44480	0.655000	0.94253	TCC		0.622	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47408183	G	A	47408183	3	1	153	1	0	0	0	0	1	0	0	0	16341	1174	41	3	2337	3	TNS3	7	47408183	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	1775801	47408183	111730480	72	10662											
POM121L12	285877	broad.mit.edu	37	chr7	53103674	53103674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgccctgcccttcccGgggagaccgctctggggcga	4	5	17	15	4	1	1	0	0	1	1	2	4	2	2	4	6	1	1	4	6	0	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:53103674G>C	ENST00000408890.4	+	1	326	c.310G>C	c.(310-312)Ggg>Cgg	p.G104R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCTTCCCGGGGAGACCGC	0.721																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(310-312)Ggg>Cgg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							20	24	23					7																	53103674		1956	4116	6072	SO:0001583	missense	285877							g.chr7:53103674G>C		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.310G>C	7.37:g.53103674G>C	ENSP00000386133:p.Gly104Arg						p.G104R	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	326	+			104					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.310G>C	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457413	0.12342	.	.	ENSG00000221900	ENST00000408890	T	0.23147	1.92	2.52	-5.04	0.02964	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	D	0.58970	0.984	P	0.55391	0.775	T	0.07028	-1.0794	9	0.51188	T	0.08	.	0.8276	0.01124	0.1688:0.2097:0.3408:0.2808	.	104	Q8N7R1	P1L12_HUMAN	R	104	ENSP00000386133:G104R	ENSP00000386133:G104R	G	+	1	0	POM121L12	53071168	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.708000	0.01891	-1.009000	0.03400	-0.521000	0.04368	GGG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		C	53103674	G	C	53103674	3	2	153	1	0	0	0	0	1	0	0	0	12241	1116	39	5	312	5	POM121L12	7	53103674	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	5695491	53103674	106034989	73	10663											
EGFR	1956	broad.mit.edu	37	chr7	55249121	55249121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatgtccgggaacacaaaGacaatattggctcccagtac	14	8	8	11	1	0	1	0	0	0	1	2	2	2	2	2	2	2	2	2	2	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:55249121G>C	ENST00000275493.2	+	20	2596	c.2419G>C	c.(2419-2421)Gac>Cac	p.D807H	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D754H|EGFR_ENST00000455089.1_Missense_Mutation_p.D762H|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	807	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.D807N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGAACACAAAGACAATATTGG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.K806E(4)|p.D807N(3)|p.K806A(1)	lung(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2419-2421)Gac>Cac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93	81	85					7																	55249121		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249121G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2419G>C	7.37:g.55249121G>C	ENSP00000275493:p.Asp807His	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.D807H|EGFR_uc010kzg.2_Missense_Mutation_p.D762H|EGFR_uc022adn.1_Missense_Mutation_p.D762H|EGFR_uc011kco.2_Missense_Mutation_p.D754H|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.D42H	p.D807H	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2665	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		807			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2419G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128711	0.77549	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82893	-1.66;-1.66;-1.66	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	L	0.37507	1.11	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.81914	0.293;0.995	D	0.88518	0.3094	10	0.87932	D	0	.	18.8719	0.92319	0.0:0.0:1.0:0.0	.	762;807	Q504U8;P00533	.;EGFR_HUMAN	H	762;677;807;754	ENSP00000415559:D762H;ENSP00000275493:D807H;ENSP00000395243:D754H	ENSP00000275493:D807H	D	+	1	0	EGFR	55216615	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.985000	0.88162	2.795000	0.96236	0.655000	0.94253	GAC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55249121	G	C	55249121	3	2	153	1	0	0	0	0	1	0	0	0	4967	942	33	5	2761	5	EGFR	7	55249121	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2145447	55249121	103889542	74	10664											
RSBN1L	222194	broad.mit.edu	37	chr7	77402516	77402516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcgaacaagtgagcccCgtgagatgctctttgaagac	11	9	10	11	2	1	4	0	3	1	2	2	6	1	4	3	0	4	1	3	0	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:77402516C>T	ENST00000334955.8	+	6	1705	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	RSBN1L_ENST00000445288.1_Missense_Mutation_p.R290C	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	560						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTGAGCCCCGTGAGATGCT	0.383																																						uc010ldt.1																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1678-1680)Cgt>Tgt		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							96	91	92					7																	77402516		1963	4190	6153	SO:0001583	missense	222194					nucleus		g.chr7:77402516C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1678C>T	7.37:g.77402516C>T	ENSP00000334040:p.Arg560Cys						p.R560C	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			5	1722	+			560					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.1678C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780037	0.90195	.	.	ENSG00000187257	ENST00000334955;ENST00000445288;ENST00000445512;ENST00000441514	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85985	0.1485	9	0.87932	D	0	-12.3534	20.3627	0.98863	0.0:1.0:0.0:0.0	.	560	Q6PCB5	RSBNL_HUMAN	C	560;290;98;66	.	ENSP00000334040:R560C	R	+	1	0	RSBN1L	77240452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.062000	0.71155	2.885000	0.99019	0.655000	0.94253	CGT		0.383	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		T	77402516	C	T	77402516	3	4	153	1	0	0	0	0	1	0	0	0	13697	652	23	2	1700	2	RSBN1L	7	77402516	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	22153395	77402516	81736147	75	10665											
AKAP9	10142	broad.mit.edu	37	chr7	91668077	91668078	+	Frame_Shift_Ins	INS	-	-	GA																															aagataaaacatttatagttINSagacagtctgtaagtatgcc																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:91668077_91668078insGA	ENST00000359028.2	+	18	4944_4945	c.4719_4720insGA	c.(4720-4722)agafs	p.R1574fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R1562fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R1574fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1574					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTTATAGTTAGACAGTCTGT	0.287			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0		p.S1561*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4681-4686)gttagafs		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91668077_91668078insGA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	Exception_encountered	7.37:g.91668077_91668078insGA	ENSP00000351922:p.Arg1574fs					AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.3_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.V1186fs	p.V1561fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	4908_4909	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1573					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.4683_4684insGA																																																																																					0.287	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		GA	91668078	-	GA	91668077	7	5	153	1	0	1	1	0	0	0	0	0	459	1741	61	0	4749	0	AKAP9	7	91668077	Frame_Shift_Ins	INS	-	TCGA-19-1790-01B-01D-1353-08	14265561	91668077	67470586	76	10666											
ZAN	7455	broad.mit.edu	37	chr7	100350019	100350019	+	RNA	DEL	A	A	-																															aaaacccaccacccccacagAaaaacccaccatctccccag																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100350019delA	ENST00000348028.3	+	0	2456				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCCCACAGAAAAACCCACC	0.527																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(2290-2292)gaafs		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							125	139	135					7																	100350019		1818	4065	5883			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350019delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350019delA						ZAN_uc003uwk.3_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	p.E764fs	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		13	2456	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		764			66 X heptapeptide repeats (approximate) (mucin-like domain).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37	c.2291delA																																																																																					0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		-	100350019	A	-	100350019	6	5	153	0	1	1	0	1	0	0	0	0	17510	246	9	0		0	ZAN	7	100350019	RNA	DEL	A	TCGA-19-1790-01B-01D-1353-08	8681942	100350019	58788644	77	10667											
MUC17	140453	broad.mit.edu	37	chr7	100674925	100674925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacaacatctacaaatgtCgtggagccaagaatgtattt	14	11	9	7	1	1	1	0	0	1	1	2	2	1	2	1	2	4	2	1	2	7	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	76					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAAATGTCGTGGAGCCAA	0.453																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(226-228)gtC>gtT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							101	94	97					7																	100674925		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674925C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.228C>T	7.37:g.100674925C>T						MUC17_uc010lho.1_Non-coding_Transcript	p.V76V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	281	+	Lung NSC(181;0.136)|all_lung(186;0.182)		76					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.228C>T	CCDS34711.1																																																																																				0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100674925	C	T	100674925	2	4	153	1	0	0	0	0	0	0	0	1	9974	871	31	2		2	MUC17	7	100674925	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	324906	100674925	58463738	78	10668											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558410	113558410	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccaaaatgtaccaacAgaagtttcataacgtataca	17	11	5	8	1	1	2	1	1	0	1	1	2	1	2	2	0	4	3	2	0	8	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:113558410A>C	ENST00000284601.3	-	1	710	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	214	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGTACCAACAGAAGTTTCAT	0.353																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(640-642)tcT>tcG		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							113	111	112					7																	113558410		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558410A>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.642T>G	7.37:g.113558410A>C							p.S214S	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			0	673	-			214			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.642T>G	CCDS5759.1																																																																																				0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		C	113558410	A	C	113558410	2	2	153	1	0	0	0	0	0	0	0	1	12371	175	7	5		5	PPP1R3A	7	113558410	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	12883485	113558410	45580253	79	10669											
CALD1	800	broad.mit.edu	37	chr7	134552504	134552504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggatgattttgagcgtcGcagagaacttagaaggcaaa	14	9	12	6	2	0	4	0	2	0	2	1	6	0	5	0	2	2	2	0	2	4	3	rs142583902		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:134552504G>A	ENST00000361675.2	+	3	249	c.20G>A	c.(19-21)cGc>cAc	p.R7H	CALD1_ENST00000361901.2_Missense_Mutation_p.R7H|CALD1_ENST00000361388.2_Missense_Mutation_p.R7H|CALD1_ENST00000422748.1_Missense_Mutation_p.R7H|CALD1_ENST00000417172.1_Missense_Mutation_p.R7H			Q05682	CALD1_HUMAN	caldesmon 1	7					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TTTGAGCGTCGCAGAGAACTT	0.433																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(19-21)cGc>cAc		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91	84	86		20,20,20	5.4	1	7	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CALD1	NM_004342.6,NM_033138.3,NM_033157.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	7/539,7/794,7/564	134552504	1,13005	2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134552504G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.20G>A	7.37:g.134552504G>A	ENSP00000354826:p.Arg7His					CALD1_uc003vry.3_Missense_Mutation_p.R7H|CALD1_uc003vsb.3_Missense_Mutation_p.R7H|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R7H	p.R7H	NM_033138	NP_149129	Q05682	CALD1_HUMAN			2	486	+			7					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.20G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065711	0.55539	0.0	1.16E-4	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928	T;T;T;T;T;T	0.60920	1.07;0.15;1.08;1.09;0.62;1.07	5.45	5.45	0.79879	.	0.000000	0.41097	D	0.000947	T	0.67249	0.2873	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.994;0.994	T	0.70945	-0.4734	10	0.72032	D	0.01	1.3183	18.9038	0.92453	0.0:0.0:1.0:0.0	.	7;7;7;7;7	A8K0X1;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;CALD1_HUMAN;.	H	7	ENSP00000398826:R7H;ENSP00000411476:R7H;ENSP00000355000:R7H;ENSP00000395710:R7H;ENSP00000354826:R7H;ENSP00000354513:R7H	ENSP00000355000:R7H	R	+	2	0	CALD1	134203044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.110000	0.77069	2.531000	0.85337	0.655000	0.94253	CGC		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		A	134552504	G	A	134552504	3	1	153	1	0	0	0	0	1	0	0	0	2581	1087	38	1	22	1	CALD1	7	134552504	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20994094	134552504	24586159	80	10670											
NUP205	23165	broad.mit.edu	37	chr7	135311087	135311087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgccaagtctatgacatgCgcccagaaacggacccgcag	13	5	10	13	3	1	2	0	1	1	1	1	3	1	3	3	1	3	1	3	1	4	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:135311087C>T	ENST00000285968.6	+	33	4797	c.4771C>T	c.(4771-4773)Cgc>Tgc	p.R1591C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1591					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTATGACATGCGCCCAGAAAC	0.423																																						uc003vsw.3																			0		p.R1591H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4771-4773)Cgc>Tgc		Homo sapiens nucleoporin 205kDa (NUP205), mRNA.							100	91	94					7																	135311087		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135311087C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4771C>T	7.37:g.135311087C>T	ENSP00000285968:p.Arg1591Cys						p.R1591C	NM_015135	NP_055950	Q92621	NU205_HUMAN			32	4802	+			1591					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4771C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191763	0.78902	.	.	ENSG00000155561	ENST00000285968	T	0.32753	1.44	5.46	5.46	0.80206	.	0.116195	0.64402	D	0.000014	T	0.49081	0.1536	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.30966	-0.9960	10	0.38643	T	0.18	-0.084	19.292	0.94103	0.0:1.0:0.0:0.0	.	1591	Q92621	NU205_HUMAN	C	1591	ENSP00000285968:R1591C	ENSP00000285968:R1591C	R	+	1	0	NUP205	134961627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.686000	0.54685	2.550000	0.86006	0.591000	0.81541	CGC		0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135311087	C	T	135311087	3	4	153	1	0	0	0	0	1	0	0	0	10759	768	27	1	4901	1	NUP205	7	135311087	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	758583	135311087	23827576	81	10671											
ANK1	286	broad.mit.edu	37	chr8	41530099	41530099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgaatccactgtgtcGtcctccacaagttccagaga	10	10	8	13	1	1	2	0	1	1	1	6	3	5	2	4	0	0	2	4	0	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:41530099G>A	ENST00000347528.4	-	38	4952	c.4869C>T	c.(4867-4869)gaC>gaT	p.D1623D	ANK1_ENST00000265709.8_Silent_p.D1664D|ANK1_ENST00000396942.1_Silent_p.D1623D|ANK1_ENST00000379758.2_Silent_p.D1623D|ANK1_ENST00000289734.7_Silent_p.D1623D|ANK1_ENST00000352337.4_Silent_p.D1623D|ANK1_ENST00000396945.1_Silent_p.D1623D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1623	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTGTGTCGTCCTCCACAA	0.562																																						uc003xok.3																			0		p.E1622K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4867-4869)gaC>gaT		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							164	159	161					8																	41530099		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530099G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4869C>T	8.37:g.41530099G>A						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.D1623D|ANK1_uc003xoj.3_Silent_p.D1623D|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.D1664D	p.D1623D	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		37	4953	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1623			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4869C>T	CCDS6119.1																																																																																				0.562	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41530099	G	A	41530099	2	1	153	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41530099	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08		41530099	104833923	82	10672											
TRHR	7201	broad.mit.edu	37	chr8	110131345	110131345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccctacaggactctagtGgttgtcaactcatttctctc	8	14	7	12	0	4	0	2	0	2	0	6	1	4	1	1	2	3	1	1	2	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:110131345G>A	ENST00000518632.1	+	3	1209	c.858G>A	c.(856-858)gtG>gtA	p.V286V	TRHR_ENST00000311762.2_Silent_p.V286V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	286					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGACTCTAGTGGTTGTCAACT	0.418																																						uc003ymz.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(856-858)gtG>gtA		Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.							244	240	242					8																	110131345		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131345G>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.858G>A	8.37:g.110131345G>A							p.V286V	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	947	+			286					Q2M339	Silent	SNP	ENST00000518632.1	37	c.858G>A	CCDS6311.1																																																																																				0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			A	110131345	G	A	110131345	2	1	153	1	0	0	0	0	0	0	0	1	16477	1335	47	3		3	TRHR	8	110131345	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	68601246	110131345	36232677	83	10673											
TRPS1	7227	broad.mit.edu	37	chr8	116599737	116599737	+	Frame_Shift_Del	DEL	C	C	-																															ggctgtagtgatgtcctgttCctggcagtgaacagtgttga																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116599737delC	ENST00000220888.5	-	4	2311	c.2152delG	c.(2152-2154)gaafs	p.E718fs	TRPS1_ENST00000395715.3_Frame_Shift_Del_p.E731fs|TRPS1_ENST00000519076.1_Frame_Shift_Del_p.E472fs|TRPS1_ENST00000519674.1_Frame_Shift_Del_p.E718fs|TRPS1_ENST00000520276.1_Frame_Shift_Del_p.E722fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	718	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTCCTGTTCCTGGCAGTGA	0.507									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2191-2193)gaafs		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							155	155	155					8																	116599737		2028	4181	6209	SO:0001589	frameshift_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599737delC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2152delG	8.37:g.116599737delC	ENSP00000220888:p.Glu718fs					TRPS1_uc011lhy.2_Frame_Shift_Del_p.E722fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.E718fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.E718fs	p.E731fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2769	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		718			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Del	DEL	ENST00000220888.5	37	c.2191delG																																																																																					0.507	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		-	116599737	C	-	116599737	7	5	153	1	0	1	0	1	0	0	0	0	16590	864	30	0	1705	0	TRPS1	8	116599737	Frame_Shift_Del	DEL	C	TCGA-19-1790-01B-01D-1353-08	6468392	116599737	29764285	84	10674											
TRPS1	7227	broad.mit.edu	37	chr8	116632180	116632180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgatctgcagaaaattCtttgttctttccagatacct	10	16	5	10	0	4	3	0	1	4	2	5	3	5	3	2	0	2	2	2	0	3	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116632180C>T	ENST00000220888.5	-	2	265	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	TRPS1_ENST00000395715.3_Missense_Mutation_p.E49K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E36K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E36K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E40K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	36					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(145-147)Gaa>Aaa		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							113	101	105					8																	116632180		1862	4124	5986	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632180C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.106G>A	8.37:g.116632180C>T	ENSP00000220888:p.Glu36Lys					TRPS1_uc011lhy.2_Missense_Mutation_p.E40K|TRPS1_uc003ynz.3_Missense_Mutation_p.E36K|TRPS1_uc010mcy.3_Missense_Mutation_p.E36K	p.E49K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	723	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		36					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.145G>A		.	.	.	.	.	.	.	.	.	.	C	16.81	3.225484	0.58668	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98835	-5.13;-5.11;-5.17;-5.11;0.69	5.82	5.82	0.92795	.	0.233067	0.36893	N	0.002347	D	0.96473	0.8849	N	0.19112	0.55	0.42771	D	0.993837	B;B;B	0.19817	0.039;0.023;0.007	B;B;B	0.21360	0.034;0.008;0.015	D	0.92772	0.6233	10	0.87932	D	0	-11.592	20.0966	0.97849	0.0:1.0:0.0:0.0	.	40;36;49	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	49;36;36;40;36;49;49;49	ENSP00000379065:E49K;ENSP00000220888:E36K;ENSP00000428910:E36K;ENSP00000428680:E40K;ENSP00000429174:E36K	ENSP00000220888:E36K	E	-	1	0	TRPS1	116701355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.123000	0.57917	2.751000	0.94390	0.650000	0.86243	GAA		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116632180	C	T	116632180	3	4	153	1	0	0	0	0	1	0	0	0	16590	922	32	3	3759	3	TRPS1	8	116632180	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	32443	116632180	29731842	85	10675											
COMMD5	28991	broad.mit.edu	37	chr8	146076337	146076337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctggctcccaaatacCacgctggccaagtccccgac	8	5	10	18	3	0	0	0	0	0	0	2	1	2	0	6	3	1	3	6	3	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:146076337C>T	ENST00000305103.3	-	2	639	c.387G>A	c.(385-387)gtG>gtA	p.V129V	COMMD5_ENST00000402718.3_Silent_p.V129V|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Silent_p.V129V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	129						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCCAAATACCACGCTGGCCA	0.652																																						uc022bcr.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(385-387)gtG>gtA		Homo sapiens COMM domain containing 5 (COMMD5), transcript variant 1, mRNA.							13	14	14					8																	146076337		2201	4292	6493	SO:0001819	synonymous_variant	28991					nucleus	protein binding	g.chr8:146076337C>T	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.387G>A	8.37:g.146076337C>T						COMMD5_uc003zel.1_Non-coding_Transcript|COMMD5_uc003zem.3_Silent_p.V129V|COMMD5_uc003zen.3_Silent_p.V129V|COMMD5_uc003zeo.4_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	p.V129V	NM_014066	NP_054785	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		0	387	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		129					D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	37	c.387G>A	CCDS6436.1																																																																																				0.652	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		T	146076337	C	T	146076337	2	4	153	1	0	0	0	0	0	0	0	1	3719	581	21	3		3	COMMD5	8	146076337	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	29444157	146076337	287685	86	10676											
PIGO	84720	broad.mit.edu	37	chr9	35095288	35095288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagggagacaggaggctctCtaggcacgtgtgaatgctgg	9	8	17	7	1	1	2	0	1	1	1	2	4	1	3	0	5	1	4	0	5	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:35095288C>A	ENST00000378617.3	-	2	669	c.275G>T	c.(274-276)aGa>aTa	p.R92I	PIGO_ENST00000298004.5_Missense_Mutation_p.R92I|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.R92I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Missense_Mutation_p.R92I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	92					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAGGCTCTCTAGGCACGTG	0.582																																						uc003zwd.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(274-276)aGa>aTa		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							119	121	121					9																	35095288		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095288C>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.275G>T	9.37:g.35095288C>A	ENSP00000367880:p.Arg92Ile					PIGO_uc003zwe.3_Missense_Mutation_p.R92I|PIGO_uc003zwf.3_Missense_Mutation_p.R92I|PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwg.2_5'UTR	p.R92I	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	671	-			92					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.275G>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092610	0.20471	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.56275	0.49;0.47;0.47;0.49	5.71	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.124360	0.37304	N	0.002159	T	0.27967	0.0689	N	0.08118	0	0.19300	N	0.99998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14035	-1.0487	10	0.38643	T	0.18	-24.6888	7.64	0.28288	0.1029:0.5769:0.2528:0.0674	.	92;92	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	92	ENSP00000298004:R92I;ENSP00000367880:R92I;ENSP00000339382:R92I;ENSP00000354678:R92I	ENSP00000298004:R92I	R	-	2	0	PIGO	35085288	0.958000	0.32768	0.975000	0.42487	0.569000	0.35902	1.005000	0.29834	1.386000	0.46466	0.563000	0.77884	AGA		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		A	35095288	C	A	35095288	3	1	153	1	0	0	0	0	1	0	0	0	11894	913	32	5	3034	5	PIGO	9	35095288	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		35095288	106118143	87	10677											
OR2K2	26248	broad.mit.edu	37	chr9	114090010	114090010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccacaggtagaaaaagccTtgtttcttccctctgctgag	10	11	8	12	0	2	2	0	1	2	1	3	2	3	2	3	1	2	3	3	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:114090010T>C	ENST00000374428.1	-	1	790	c.791A>G	c.(790-792)aAg>aGg	p.K264R	OR2K2_ENST00000302681.1_Missense_Mutation_p.K235R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGAAAAAGCCTTGTTTCTTCC	0.423																																						uc011lwp.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(703-705)aAg>aGg		Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.							115	111	113					9																	114090010		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090010T>C	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.791A>G	9.37:g.114090010T>C	ENSP00000363550:p.Lys264Arg						p.K235R	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			0	704	-			264					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.704A>G		.	.	.	.	.	.	.	.	.	.	T	20.8	4.052194	0.75960	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00360	7.86;7.86	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000621	T	0.00815	0.0027	M	0.81112	2.525	0.43242	D	0.995155	D	0.89917	1.0	D	0.91635	0.999	T	0.71507	-0.4572	10	0.72032	D	0.01	.	12.3781	0.55291	0.0:0.0:0.0:1.0	.	264	Q8NGT1	OR2K2_HUMAN	R	235;264	ENSP00000305055:K235R;ENSP00000363550:K264R	ENSP00000305055:K235R	K	-	2	0	OR2K2	113129831	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.966000	0.70395	2.093000	0.63338	0.482000	0.46254	AAG		0.423	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		C	114090010	T	C	114090010	3	2	153	1	0	0	0	0	1	0	0	0	11005	1609	56	4	249	4	OR2K2	9	114090010	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	78994722	114090010	27123421	88	10678											
STXBP1	6812	broad.mit.edu	37	chr9	130422360	130422360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgccgactgctaaatacCgggctgcacacgtcttcttc	8	9	8	16	4	2	0	0	0	2	0	3	1	2	0	3	1	3	3	3	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:130422360C>T	ENST00000373299.1	+	5	413	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R100W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	100					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCTAAATACCGGGCTGCACA	0.527																																						uc004brk.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(298-300)Cgg>Tgg		Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.							112	98	103					9																	130422360		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130422360C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.298C>T	9.37:g.130422360C>T	ENSP00000362396:p.Arg100Trp					STXBP1_uc004brl.2_Missense_Mutation_p.R100W	p.R100W	NM_003165	NP_003156	P61764	STXB1_HUMAN			4	495	+			100					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.298C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495633	0.85069	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.81415	-1.49;-1.49	5.54	4.59	0.56863	.	0.048228	0.85682	D	0.000000	D	0.88451	0.6440	M	0.83953	2.67	0.52501	D	0.999959	D;D	0.64830	0.994;0.992	D;D	0.64321	0.924;0.914	D	0.89373	0.3676	10	0.87932	D	0	-23.1292	12.2091	0.54369	0.2574:0.7426:0.0:0.0	.	100;100	P61764;P61764-2	STXB1_HUMAN;.	W	54;100;100	ENSP00000362399:R100W;ENSP00000362396:R100W	ENSP00000362396:R100W	R	+	1	2	STXBP1	129462181	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.525000	0.53502	2.765000	0.95021	0.655000	0.94253	CGG		0.527	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		T	130422360	C	T	130422360	3	4	153	1	0	0	0	0	1	0	0	0	15351	643	23	2	316	2	STXBP1	9	130422360	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	16332350	130422360	10791071	89	10679											
ITGB1	3688	broad.mit.edu	37	chr10	33211272	33211272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagggatcaagtttttcagCtcctgcaattaaaagataaa	15	13	7	6	0	2	1	2	0	0	1	3	2	3	2	1	1	2	3	1	1	7	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:33211272C>A	ENST00000396033.2	-	9	1176	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	ITGB1_ENST00000423113.1_Missense_Mutation_p.E347D|ITGB1_ENST00000302278.3_Missense_Mutation_p.E347D|ITGB1_ENST00000374956.4_Missense_Mutation_p.E347D	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	347	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AGTTTTTCAGCTCCTGCAATT	0.348																																						uc001iws.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1039-1041)gaG>gaT		Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.							145	135	138					10																	33211272		2203	4299	6502	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33211272C>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1041G>T	10.37:g.33211272C>A	ENSP00000379350:p.Glu347Asp					ITGB1_uc001iwr.4_Missense_Mutation_p.E347D|ITGB1_uc001iwt.4_Missense_Mutation_p.E347D	p.E347D	NM_133376	NP_596867	P05556	ITB1_HUMAN			8	1177	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	347			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1041G>T	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613966	0.66672	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.84	-0.55	0.11825	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	L	0.56340	1.77	0.54753	D	0.999987	D;D;D;B;D	0.89917	0.999;1.0;0.994;0.068;0.997	D;D;D;B;P	0.91635	0.996;0.999;0.925;0.048;0.904	D	0.95788	0.8822	10	0.49607	T	0.09	.	11.9349	0.52868	0.0:0.4648:0.0:0.5352	.	347;347;347;347;347	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	D	347	ENSP00000379350:E347D;ENSP00000388694:E347D;ENSP00000303351:E347D;ENSP00000364094:E347D	ENSP00000303351:E347D	E	-	3	2	ITGB1	33251278	0.998000	0.40836	0.995000	0.50966	0.852000	0.48524	0.424000	0.21330	-0.063000	0.13065	-0.238000	0.12139	GAG		0.348	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		A	33211272	C	A	33211272	3	1	153	1	0	0	0	0	1	0	0	0	7890	796	28	5	1625	5	ITGB1	10	33211272	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		33211272	102323475	90	10680											
ALOX5	240	broad.mit.edu	37	chr10	45936078	45936078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtgcaccccattttCaaggtacagccagctaccgc	8	9	8	16	1	1	0	1	0	0	0	1	0	1	0	5	1	6	4	5	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:45936078C>A	ENST00000374391.2	+	8	1235	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L	ALOX5_ENST00000542434.1_Missense_Mutation_p.F394L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	394	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCCATTTTCAAGGTACAGC	0.582																																						uc001jce.3																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1180-1182)ttC>ttA		Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						77	54	62					10																	45936078		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45936078C>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1182C>A	10.37:g.45936078C>A	ENSP00000363512:p.Phe394Leu					ALOX5_uc009xmt.3_Missense_Mutation_p.F394L|ALOX5_uc010qfg.2_Missense_Mutation_p.F394L|ALOX5_uc021ppr.1_Missense_Mutation_p.F394L	p.F394L	NM_000698	NP_000689	P09917	LOX5_HUMAN			7	1281	+		Lung SC(717;0.0257)	394			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1182C>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281637	0.80692	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.79940	-1.32;-1.32	5.96	3.14	0.36123	Lipoxygenase, C-terminal (4);Lipoxygenase, conserved site (1);	0.148685	0.64402	D	0.000011	T	0.76478	0.3993	L	0.55834	1.745	0.52501	D	0.999953	P;P;P	0.49961	0.882;0.698;0.93	P;B;P	0.46253	0.509;0.338;0.509	T	0.74899	-0.3507	10	0.56958	D	0.05	-40.3076	6.88	0.24168	0.0:0.6659:0.0:0.3341	.	394;394;394	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	L	394	ENSP00000437634:F394L;ENSP00000363512:F394L	ENSP00000363512:F394L	F	+	3	2	ALOX5	45256084	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.592000	0.23984	0.869000	0.35703	0.650000	0.86243	TTC		0.582	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			A	45936078	C	A	45936078	3	1	153	1	0	0	0	0	1	0	0	0	540	825	29	5	1212	5	ALOX5	10	45936078	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	12724806	45936078	89598669	91	10681											
CDH23	64072	broad.mit.edu	37	chr10	73405621	73405621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtttgaggtgtacttggtgGggaacaactcccaccacttc	8	12	11	10	0	0	1	0	1	0	0	2	2	1	2	2	4	3	2	2	4	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:73405621G>C	ENST00000224721.6	+	12	1194	c.1189G>C	c.(1189-1191)Ggg>Cgg	p.G397R	CDH23_ENST00000461841.3_Missense_Mutation_p.G437R|CDH23_ENST00000299366.7_Missense_Mutation_p.G437R|CDH23_ENST00000398809.4_Missense_Mutation_p.G392R|CDH23_ENST00000398842.3_Missense_Mutation_p.G392R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTACTTGGTGGGGAACAACTC	0.572																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1168-1170)Ggg>Cgg		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							74	77	76					10																	73405621		2075	4204	6279	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73405621G>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1189G>C	10.37:g.73405621G>C	ENSP00000224721:p.Gly397Arg					CDH23_uc001jrw.4_Missense_Mutation_p.G390R|CDH23_uc001jry.3_Missense_Mutation_p.G390R|CDH23_uc001jrz.3_Missense_Mutation_p.G390R|CDH23_uc021psl.1_Missense_Mutation_p.G392R	p.G390R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			11	1558	+			392			Cadherin 4.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1168G>C		.	.	.	.	.	.	.	.	.	.	G	24.3	4.519390	0.85495	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.60672	0.67;0.17	4.91	4.91	0.64330	Cadherin (3);Cadherin-like (1);	0.080005	0.48767	D	0.000177	T	0.79423	0.4443	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.83617	0.0137	10	0.87932	D	0	.	18.1099	0.89532	0.0:0.0:1.0:0.0	.	392;395;392;392	Q6P152;G3XCN8;Q9H251;Q9H251-5	.;.;CAD23_HUMAN;.	R	397;392;392;392;392;395;395;307	ENSP00000381789:G392R;ENSP00000381822:G392R	ENSP00000224721:G397R	G	+	1	0	CDH23	73075627	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.434000	0.97515	2.280000	0.76307	0.561000	0.74099	GGG		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		C	73405621	G	C	73405621	3	2	153	1	0	0	0	0	1	0	0	0	3108	1232	43	5	1303	5	CDH23	10	73405621	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	27469543	73405621	62129126	92	10682											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407262	75407262	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggagtcttaggagtcatAgggggcggggtcttgggagc	6	9	21	5	1	3	0	1	0	2	0	3	3	3	3	0	8	1	0	0	8	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:75407262A>G	ENST00000394810.2	-	4	2297	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	SYNPO2L_ENST00000372873.4_Silent_p.P492P	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	716	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TAGGAGTCATAGGGGGCGGGG	0.617																																						uc001jut.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2146-2148)ccT>ccC		Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.							47	58	54					10																	75407262		2200	4298	6498	SO:0001819	synonymous_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407262A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2148T>C	10.37:g.75407262A>G						SYNPO2L_uc001jus.4_Silent_p.P492P	p.P716P	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			3	2300	-	Prostate(51;0.0112)		716			Pro-rich.		A5PKV9|Q68A20	Silent	SNP	ENST00000394810.2	37	c.2148T>C	CCDS44438.1																																																																																				0.617	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		G	75407262	A	G	75407262	2	3	153	1	0	0	0	0	0	0	0	1	15455	407	15	4		4	SYNPO2L	10	75407262	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	2001641	75407262	60127485	93	10683											
ZMIZ1	57178	broad.mit.edu	37	chr10	81061939	81061939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactcctcaagaagcgcCtcctgcccgcagagcactgt	10	6	10	15	2	1	2	1	0	0	2	3	3	3	3	4	1	3	2	4	1	3	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:81061939C>T	ENST00000334512.5	+	18	2667	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	699					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGAAGCGCCTCCTGCCCGC	0.627																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2095-2097)Ctc>Ttc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							97	91	93					10																	81061939		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81061939C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2095C>T	10.37:g.81061939C>T	ENSP00000334474:p.Leu699Phe					ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	p.L699F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		17	2667	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		699					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2095C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554046	0.96501	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.37752	1.18	5.51	5.51	0.81932	.	0.000000	0.37012	N	0.002294	T	0.65995	0.2745	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70256	-0.4922	10	0.72032	D	0.01	-23.433	19.427	0.94746	0.0:1.0:0.0:0.0	.	699	Q9ULJ6	ZMIZ1_HUMAN	F	699;629;604	ENSP00000334474:L699F	ENSP00000334474:L699F	L	+	1	0	ZMIZ1	80731945	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.439000	0.80444	2.577000	0.86979	0.561000	0.74099	CTC		0.627	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		T	81061939	C	T	81061939	3	4	153	1	0	0	0	0	1	0	0	0	17693	681	24	3	2149	3	ZMIZ1	10	81061939	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	5654677	81061939	54472808	94	10684											
RPP30	10556	broad.mit.edu	37	chr10	92660375	92660375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacagtgaagaaacctcGgccatcagaaggagatgaag	15	6	11	9	1	2	5	1	2	1	3	3	6	2	5	2	2	2	0	2	2	5	1	rs185152546		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:92660375G>A	ENST00000371703.3	+	11	1017	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	RPP30_ENST00000413330.1_Missense_Mutation_p.R249Q|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	249					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AAGAAACCTCGGCCATCAGAA	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		17487	0		0	False		,,,				2504	0					uc001khd.2																			0		p.R249R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(745-747)cGg>cAg		Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	172	182	179		746,746	3.2	0.8	10		179	0,8600		0,0,4300	no	missense,missense	RPP30	NM_001104546.1,NM_006413.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	249/323,249/269	92660375	1,13005	2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92660375G>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.746G>A	10.37:g.92660375G>A	ENSP00000360768:p.Arg249Gln					RPP30_uc009xtx.3_Missense_Mutation_p.R249Q	p.R249Q	NM_001104546	NP_001098016	P78346	RPP30_HUMAN			10	1016	+			249					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.746G>A	CCDS7411.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.16	1.855569	0.32791	2.27E-4	0.0	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000414836	T;T	0.42513	0.98;0.97	6.07	3.24	0.37175	.	0.536065	0.20251	N	0.096061	T	0.24005	0.0581	N	0.25144	0.715	0.18873	N	0.999987	B;B	0.22480	0.015;0.07	B;B	0.08055	0.001;0.003	T	0.17077	-1.0381	10	0.11485	T	0.65	-12.079	9.4223	0.38559	0.2283:0.0:0.7717:0.0	.	249;249	P78346;E9PB02	RPP30_HUMAN;.	Q	249;249;239;193	ENSP00000360768:R249Q;ENSP00000389182:R249Q	ENSP00000360768:R249Q	R	+	2	0	RPP30	92650355	0.950000	0.32346	0.828000	0.32881	0.575000	0.36095	2.104000	0.41815	0.910000	0.36722	0.585000	0.79938	CGG		0.423	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		A	92660375	G	A	92660375	3	1	153	1	0	0	0	0	1	0	0	0	13612	1116	39	2	788	2	RPP30	10	92660375	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	11598436	92660375	42874372	95	10685											
PDLIM1	9124	broad.mit.edu	37	chr10	96998437	96998437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaatcctgagggcttgttggGatcccctgaaatgaggaaaa	12	9	13	7	0	0	3	0	3	0	0	2	6	2	5	3	3	0	2	3	3	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:96998437G>C	ENST00000329399.6	-	6	799	c.691C>G	c.(691-693)Ccc>Gcc	p.P231A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	231					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGCTTGTTGGGATCCCCTGAA	0.443																																						uc001kkh.3																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10						c.(691-693)Ccc>Gcc		Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.							80	72	75					10																	96998437		2203	4300	6503	SO:0001583	missense	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:96998437G>C	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.691C>G	10.37:g.96998437G>C	ENSP00000360305:p.Pro231Ala						p.P231A	NM_020992	NP_066272	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	5	800	-		Colorectal(252;0.083)	231					B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	c.691C>G	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	G	9.488	1.099805	0.20552	.	.	ENSG00000107438	ENST00000329399	T	0.22743	1.94	5.23	4.33	0.51752	.	0.292600	0.40908	D	0.000996	T	0.20170	0.0485	L	0.57536	1.79	0.41576	D	0.988713	B	0.31968	0.349	B	0.30646	0.118	T	0.03651	-1.1016	10	0.22109	T	0.4	-7.9005	11.0167	0.47693	0.0863:0.0:0.9137:0.0	.	231	O00151	PDLI1_HUMAN	A	231	ENSP00000360305:P231A	ENSP00000360305:P231A	P	-	1	0	PDLIM1	96988427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.334000	0.43920	1.207000	0.43291	0.555000	0.69702	CCC		0.443	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			C	96998437	G	C	96998437	3	2	153	1	0	0	0	0	1	0	0	0	11679	1174	41	5	306	5	PDLIM1	10	96998437	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4338062	96998437	38536310	96	10686											
DMBT1	1755	broad.mit.edu	37	chr10	124358594	124358594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggccatagtgaagaCgctggtgtcatctgctcagg	9	10	13	9	1	3	2	2	1	1	1	3	2	3	2	1	3	2	2	1	3	3	1	rs377379898	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124358594C>T	ENST00000338354.3	+	26	3367	c.3261C>T	c.(3259-3261)gaC>gaT	p.D1087D	DMBT1_ENST00000368955.3_Silent_p.D1077D|DMBT1_ENST00000368909.3_Silent_p.D1087D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.D588D|DMBT1_ENST00000344338.3_Silent_p.D1077D|DMBT1_ENST00000330163.4_Silent_p.D588D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1087	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D1087D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAGTGAAGACGCTGGTGTCA	0.532													c|||	2	0.000399361	0.0015	0	5008	,	,		19535	0		0	False		,,,				2504	0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			1	Substitution - coding silent(1)	p.D1087D(1)	prostate(1)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3259-3261)gaC>gaT		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.		T	,,	10,3840		0,10,1915	95	89	91		1764,3261,3231	-7.2	0	10		91	0,8264		0,0,4132	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,10,6047	TT,TC,CC		0.0,0.2597,0.0825	,,	588/1786,1087/2414,1077/2404	124358594	10,12104	1925	4132	6057	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358594C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3261C>T	10.37:g.124358594C>T						DMBT1_uc001lgl.1_Silent_p.D1077D|DMBT1_uc001lgm.1_Silent_p.D588D|DMBT1_uc021qaf.1_Silent_p.D1087D|DMBT1_uc021qag.1_Silent_p.D1077D|DMBT1_uc021qah.1_Silent_p.D588D|DMBT1_uc009xzz.1_Silent_p.D1087D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.D48D	p.D1087D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			25	3367	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1087			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.3261C>T																																																																																					0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124358594	C	T	124358594	2	4	153	1	0	0	0	0	0	0	0	1	4577	535	19	1		1	DMBT1	10	124358594	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	27360157	124358594	11176153	97	10687											
DMBT1	1755	broad.mit.edu	37	chr10	124390740	124390740	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggcagtgccggaacCgaggctggttctcccacaac	7	8	11	15	2	2	0	0	0	2	0	4	2	2	1	3	4	3	3	3	4	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124390740C>T	ENST00000338354.3	+	46	6008	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1958*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1968*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R688*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1340*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1958*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1340*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1968	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCCGGAACCGAGGCTGGTT	0.542																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0		p.R1968L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5902-5904)Cga>Tga		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							154	151	152					10																	124390740		2052	4198	6250	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390740C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5902C>T	10.37:g.124390740C>T	ENSP00000342210:p.Arg1968*					DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1968*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1958*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	p.R1968*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			45	6008	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1968			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.5902C>T		.	.	.	.	.	.	.	.	.	.	C	44	10.679562	0.99449	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	.	.	.	5.56	-7.25	0.01470	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.2793	0.15666	0.5299:0.2152:0.1907:0.0642	.	.	.	.	X	1968;2097;1968;1968;1968;1968;1340;1958;1340;1340;1968;1958;1340;114;688	.	ENSP00000331522:R1340X	R	+	1	2	DMBT1	124380730	0.000000	0.05858	0.000000	0.03702	0.878000	0.50629	-9.404000	0.00011	-1.798000	0.01250	0.650000	0.86243	CGA		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124390740	C	T	124390740	4	4	153	1	0	0	0	0	0	1	0	0	4577	644	23	2	6084	2	DMBT1	10	124390740	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	32146	124390740	11144007	98	10688											
DOCK1	1793	broad.mit.edu	37	chr10	128830507	128830507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcaagagcatgcagaGccttgggagctgcaccatta	11	6	12	12	1	0	2	0	0	0	2	0	3	0	3	3	2	5	5	3	2	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:128830507G>A	ENST00000280333.6	+	18	1881	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	591	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCATGCAGAGCCTTGGGAGC	0.562																																						uc010qun.2																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1834-1836)aGc>aAc		Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.							27	28	28					10																	128830507		2141	4241	6382	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128830507G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1772G>A	10.37:g.128830507G>A	ENSP00000280333:p.Ser591Asn					DOCK1_uc001ljt.3_Missense_Mutation_p.S591N	p.S612N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	17	1899	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	591			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1835G>A		.	.	.	.	.	.	.	.	.	.	G	11.85	1.761669	0.31228	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	3.85	3.85	0.44370	.	0.048363	0.85682	D	0.000000	T	0.02380	0.0073	N	0.10837	0.055	0.33225	D	0.555216	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29027	-1.0025	10	0.25106	T	0.35	.	4.5824	0.12266	0.2677:0.0:0.7323:0.0	.	591;591	B2RUU3;Q14185	.;DOCK1_HUMAN	N	591	ENSP00000280333:S591N	ENSP00000280333:S591N	S	+	2	0	DOCK1	128720497	1.000000	0.71417	0.941000	0.38009	0.947000	0.59692	2.516000	0.45520	2.415000	0.81967	0.655000	0.94253	AGC		0.562	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	128830507	G	A	128830507	3	1	153	1	0	0	0	0	1	0	0	0	4684	971	34	3	1842	3	DOCK1	10	128830507	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4439767	128830507	6704240	99	10689											
ART5	116969	broad.mit.edu	37	chr11	3660908	3660908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaaaatggctacaggtctGattatagctccagagagtca	13	11	10	7	0	2	2	1	1	1	1	3	3	3	2	1	2	2	3	1	2	5	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:3660908G>C	ENST00000397068.3	-	2	1143	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ART5_ENST00000359918.4_Missense_Mutation_p.Q251E|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	251					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACAGGTCTGATTATAGCTC	0.522																																						uc001lyb.1																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(751-753)Cag>Gag		Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.							85	93	90					11																	3660908		2201	4298	6499	SO:0001583	missense	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660908G>C	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.751C>G	11.37:g.3660908G>C	ENSP00000380258:p.Gln251Glu					ART5_uc001lyc.1_Missense_Mutation_p.Q251E|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	p.Q251E	NM_053017	NP_443750	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1144	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	251					C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	c.751C>G	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968621|1.968621	0.34754|0.34754	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000359918;ENST00000425767|ENST00000453353	T;T;T|.	0.07688|.	3.17;3.17;3.17|.	5.95|5.95	5.03|5.03	0.67393|0.67393	.|.	0.662303|.	0.15188|.	N|.	0.275718|.	T|.	0.45577|.	0.1349|.	L|L	0.54323|0.54323	1.7|1.7	0.25738|0.25738	N|N	0.985194|0.985194	B|.	0.24132|.	0.098|.	B|.	0.27076|.	0.076|.	T|.	0.36529|.	-0.9744|.	10|.	0.10636|.	T|.	0.68|.	-11.6058|-11.6058	10.0047|10.0047	0.41951|0.41951	0.0:0.1503:0.6938:0.156|0.0:0.1503:0.6938:0.156	.|.	251|.	Q96L15|.	NAR5_HUMAN|.	E|X	251;251;132|207	ENSP00000380258:Q251E;ENSP00000352992:Q251E;ENSP00000413852:Q132E|.	ENSP00000352992:Q251E|.	Q|S	-|-	1|2	0|0	ART5|ART5	3617484|3617484	0.864000|0.864000	0.29904|0.29904	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.396000|1.396000	0.34531|0.34531	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.522	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		C	3660908	G	C	3660908	3	2	153	1	0	0	0	0	1	0	0	0	1000	1299	45	5	136	5	ART5	11	3660908	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		3660908	131345608	100	10690											
HBE1	3046	broad.mit.edu	37	chr11	5290821	5290821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccatgggccttgacctTggggttgcccaggatggcag	5	10	15	11	0	0	1	0	1	0	0	0	2	0	2	4	5	2	2	4	5	0	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:5290821T>C	ENST00000380237.1	-	4	522	c.178A>G	c.(178-180)Aag>Gag	p.K60E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K60E			P02100	HBE_HUMAN	hemoglobin, epsilon 1	60					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTGACCTTGGGGTTGCCC	0.507																																						uc001mal.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(178-180)Aag>Gag		Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.							104	96	99					11																	5290821		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5290821T>C	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.178A>G	11.37:g.5290821T>C	ENSP00000369586:p.Lys60Glu					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	p.K60E	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	60					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.178A>G	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	T	32	5.131008	0.94473	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.92965	-3.14;-3.14;-3.14	6.06	6.06	0.98353	Globin-like (1);Globin, structural domain (1);	0.312805	0.29602	U	0.011685	D	0.95214	0.8448	M	0.90369	3.11	0.39006	D	0.959455	P	0.37781	0.608	P	0.46208	0.507	D	0.96328	0.9241	10	0.87932	D	0	-18.0649	15.4367	0.75152	0.0:0.0:0.0:1.0	.	60	P02100	HBE_HUMAN	E	60	ENSP00000369586:K60E;ENSP00000292896:K60E;ENSP00000380104:K60E	ENSP00000292896:K60E	K	-	1	0	HBE1	5247397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.361000	0.66092	2.322000	0.78497	0.528000	0.53228	AAG		0.507	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		C	5290821	T	C	5290821	3	2	153	1	0	0	0	0	1	0	0	0	6980	1821	63	4	273	4	HBE1	11	5290821	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1629913	5290821	129715695	101	10691											
OR52L1	338751	broad.mit.edu	37	chr11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctaccaggagaaaagaaGgctgggatagcctccagctt	12	7	11	11	0	0	2	0	0	0	2	2	4	2	3	4	3	3	2	4	3	5	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:6008078G>A	ENST00000332249.4	-	1	137	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			0		p.Q27Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(82-84)cCt>cTt		Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.							47	46	47					11																	6008078		1848	4093	5941	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6008078G>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.83C>T	11.37:g.6008078G>A	ENSP00000330338:p.Pro28Leu						p.P28L	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	138	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.83C>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908287	0.17833	.	.	ENSG00000183313	ENST00000332249	T	0.00316	8.13	3.8	2.84	0.33178	.	0.428864	0.17351	N	0.177413	T	0.00144	0.0004	N	0.12471	0.22	0.34901	D	0.746518	B	0.13145	0.007	B	0.09377	0.004	T	0.59888	-0.7369	10	0.40728	T	0.16	.	10.9754	0.47463	0.1046:0.0:0.8954:0.0	.	28	Q8NGH7	O52L1_HUMAN	L	28	ENSP00000330338:P28L	ENSP00000330338:P28L	P	-	2	0	OR52L1	5964654	0.878000	0.30173	0.983000	0.44433	0.415000	0.31203	3.281000	0.51685	1.827000	0.53221	0.313000	0.20887	CCT		0.468	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		A	6008078	G	A	6008078	3	1	153	1	0	0	0	0	1	0	0	0	11125	1000	35	3	910	3	OR52L1	11	6008078	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	717257	6008078	128998438	102	10692											
SLC1A2	6506	broad.mit.edu	37	chr11	35313908	35313908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaggggtttttcctggtCactacaaagtaaatcaaggg	13	10	12	6	0	2	1	2	0	0	1	3	2	3	1	1	4	1	2	1	4	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:35313908C>T	ENST00000278379.3	-	7	1299	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	SLC1A2_ENST00000395753.1_Silent_p.V330V|SLC1A2_ENST00000606205.1_Silent_p.V339V|SLC1A2_ENST00000395750.1_Silent_p.V330V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	339					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TTTTCCTGGTCACTACAAAGT	0.478																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.3																			0		p.V339G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1015-1017)gtG>gtA		Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						184	184	184					11																	35313908		2202	4298	6500	SO:0001819	synonymous_variant	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313908C>T	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1017G>A	11.37:g.35313908C>T						SLC1A2_uc021qfx.1_Silent_p.V330V|SLC1A2_uc001mwe.3_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	p.V339V	NM_004171	NP_001239581	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	1609	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	339					B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	c.1017G>A	CCDS31459.1																																																																																				0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		T	35313908	C	T	35313908	2	4	153	1	0	0	0	0	0	0	0	1	14432	813	29	3		3	SLC1A2	11	35313908	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	29305830	35313908	99692608	103	10693											
CREB3L1	90993	broad.mit.edu	37	chr11	46321656	46321656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacagctactccctgagCggcgactcagcgccccagag	9	4	12	16	3	1	2	1	1	0	1	2	4	2	2	3	1	5	2	3	1	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46321656C>T	ENST00000529193.1	+	2	724	c.273C>T	c.(271-273)agC>agT	p.S91S	CREB3L1_ENST00000288400.3_Silent_p.S91S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	91					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACTCCCTGAGCGGCGACTCAG	0.607			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	uc021qil.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(271-273)agC>agT		Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.							50	52	51					11																	46321656		2073	4221	6294	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46321656C>T		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.273C>T	11.37:g.46321656C>T						CREB3L1_uc021qik.1_Silent_p.S91S	p.S91S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	1	708	+			91					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.273C>T	CCDS53620.1																																																																																				0.607	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		T	46321656	C	T	46321656	2	4	153	1	0	0	0	0	0	0	0	1	3856	767	27	1		1	CREB3L1	11	46321656	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	11007748	46321656	88684860	104	10694											
LRP4	4038	broad.mit.edu	37	chr11	46916320	46916320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactcagagcggtgtggcaGcacctgccggatgtcgatgc	7	8	15	11	3	1	1	1	0	0	1	2	3	1	2	2	3	5	3	2	3	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46916320G>A	ENST00000378623.1	-	12	1602	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	454					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTGTGGCAGCACCTGCCGG	0.567																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1360-1362)Ctg>Ttg		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.							109	107	108					11																	46916320		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46916320G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1360C>T	11.37:g.46916320G>A							p.L454L	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	11	1603	-			454					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.1360C>T	CCDS31478.1																																																																																				0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46916320	G	A	46916320	2	1	153	1	0	0	0	0	0	0	0	1	8959	962	34	3		3	LRP4	11	46916320	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	594664	46916320	88090196	105	10695											
OR5D14	219436	broad.mit.edu	37	chr11	55563704	55563704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctatgttttcatttttGtgactgtactaaaaatccgt	9	19	5	8	1	1	1	1	1	0	0	3	1	3	1	2	0	1	2	2	0	5	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:55563704G>C	ENST00000335605.1	+	1	673	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCATTTTTGTGACTGTACT	0.478																																						uc010rim.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(673-675)Gtg>Ctg		Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.							164	154	158					11																	55563704		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563704G>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.673G>C	11.37:g.55563704G>C	ENSP00000334456:p.Val225Leu						p.V225L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			0	673	+		all_epithelial(135;0.196)	225					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.673G>C	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	4.742	0.137937	0.09083	.	.	ENSG00000186113	ENST00000335605	T	0.35973	1.28	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000975	T	0.28067	0.0692	L	0.28274	0.84	0.09310	N	1	B	0.16802	0.019	B	0.23852	0.049	T	0.18398	-1.0338	10	0.45353	T	0.12	-19.5672	12.9041	0.58141	0.0:0.1635:0.8365:0.0	.	225	Q8NGL3	OR5DE_HUMAN	L	225	ENSP00000334456:V225L	ENSP00000334456:V225L	V	+	1	0	OR5D14	55320280	0.000000	0.05858	0.914000	0.36105	0.023000	0.10783	-0.910000	0.04054	2.363000	0.80096	0.643000	0.83706	GTG		0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		C	55563704	G	C	55563704	3	2	153	1	0	0	0	0	1	0	0	0	11155	1377	48	5	675	5	OR5D14	11	55563704	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	8647384	55563704	79442812	106	10696											
OR6Q1	219952	broad.mit.edu	37	chr11	57798590	57798590	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtgggtttggaccacCgactacggagacccatgtat	9	10	13	9	2	0	1	0	0	0	1	0	4	0	2	3	4	1	2	3	4	3	4	rs369989982		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:57798590C>T	ENST00000302622.3	+	1	189	c.166C>T	c.(166-168)Cga>Tga	p.R56*	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTGGACCACCGACTACGGAG	0.478													C|||	1	0.000199681	0	0	5008	,	,		20831	0		0	False		,,,				2504	0.001					uc010rjz.2																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(166-168)Cga>Tga		Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.		C	stop/ARG	0,4402		0,0,2201	220	208	212		166	3	0	11		212	2,8590	2.2+/-6.3	0,2,4294	no	stop-gained	OR6Q1	NM_001005186.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		56/318	57798590	2,12992	2201	4296	6497	SO:0001587	stop_gained	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798590C>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.166C>T	11.37:g.57798590C>T	ENSP00000307734:p.Arg56*					OR9Q1_uc001nmj.3_Intron	p.R56*	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			0	166	+		Breast(21;0.0707)|all_epithelial(135;0.142)	56					B9EKW1|Q6IFH1|Q96R34	Nonsense_Mutation	SNP	ENST00000302622.3	37	c.166C>T	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058064	0.36277	0.0	2.33E-4	ENSG00000172381	ENST00000302622	.	.	.	5.04	2.99	0.34606	.	0.258733	0.19558	N	0.111396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1669	0.15090	0.3441:0.5479:0.0:0.108	.	.	.	.	X	56	.	ENSP00000307734:R56X	R	+	1	2	OR6Q1	57555166	0.000000	0.05858	0.018000	0.16275	0.336000	0.28762	0.019000	0.13444	1.121000	0.41925	0.643000	0.83706	CGA		0.478	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		T	57798590	C	T	57798590	4	4	153	1	0	0	0	0	0	1	0	0	11208	644	23	2	168	2	OR6Q1	11	57798590	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	2234886	57798590	77207926	107	10697											
PLAC1L	219990	broad.mit.edu	37	chr11	59812205	59812205	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccccaaggaatatagAtcatgaccctcaggaaatcc	14	9	6	12	0	2	2	2	1	0	1	3	4	3	4	4	2	1	0	4	2	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:59812205A>T	ENST00000278855.2	+	3	490	c.305A>T	c.(304-306)gAt>gTt	p.D102V	PLAC1L_ENST00000532905.1_Missense_Mutation_p.D71V	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		102						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAATATAGATCATGACCCT	0.408																																						uc001nol.3																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(304-306)gAt>gTt		Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							116	107	110					11																	59812205		2201	4295	6496	SO:0001583	missense	219990					extracellular region		g.chr11:59812205A>T																												ENST00000278855.2:c.305A>T	11.37:g.59812205A>T	ENSP00000278855:p.Asp102Val						p.D102V	NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			2	490	+			102					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.305A>T	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	A	7.615	0.675641	0.14841	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.83163	-1.69;-1.69	3.02	-2.4	0.06583	.	1.480420	0.04814	N	0.435793	T	0.62097	0.2400	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.45862	-0.9232	10	0.42905	T	0.14	0.016	0.3156	0.00295	0.3392:0.2016:0.2622:0.197	.	102	Q86WS3	PLACL_HUMAN	V	102;71	ENSP00000278855:D102V;ENSP00000433831:D71V	ENSP00000278855:D102V	D	+	2	0	PLAC1L	59568781	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.061000	0.11693	-0.532000	0.06332	0.460000	0.39030	GAT		0.408	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			T	59812205	A	T	59812205	3	4	153	1	0	0	0	0	1	0	0	0	12013	333	12	5	315	5	PLAC1L	11	59812205	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	2013615	59812205	75194311	108	10698											
AHNAK	79026	broad.mit.edu	37	chr11	62299512	62299512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctggttcctcaatgcTcacatcaggagcagtaacat	10	11	7	13	0	4	0	3	0	1	0	5	1	5	1	2	2	3	4	2	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:62299512T>A	ENST00000378024.4	-	5	2651	c.2377A>T	c.(2377-2379)Agc>Tgc	p.S793C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	793					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTCAATGCTCACATCAGGA	0.502																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2377-2379)Agc>Tgc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							147	150	149					11																	62299512		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299512T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2377A>T	11.37:g.62299512T>A	ENSP00000367263:p.Ser793Cys					AHNAK_uc001ntk.1_Intron	p.S793C	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	2677	-		Melanoma(852;0.155)	793					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2377A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921089	0.33908	.	.	ENSG00000124942	ENST00000378024	T	0.00932	5.53	5.46	4.31	0.51392	.	1.078080	0.07240	N	0.864055	T	0.04318	0.0119	M	0.78049	2.395	0.24864	N	0.992328	D	0.61697	0.99	D	0.63703	0.917	T	0.43163	-0.9408	10	0.52906	T	0.07	-0.9326	3.931	0.09285	0.0:0.1866:0.1884:0.625	.	793	Q09666	AHNK_HUMAN	C	793	ENSP00000367263:S793C	ENSP00000367263:S793C	S	-	1	0	AHNAK	62056088	0.000000	0.05858	0.598000	0.28837	0.226000	0.24999	0.298000	0.19120	0.889000	0.36185	0.374000	0.22700	AGC		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62299512	T	A	62299512	3	1	153	1	0	0	0	0	1	0	0	0	414	1551	54	5	15415	5	AHNAK	11	62299512	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	2487307	62299512	72707004	109	10699											
DPP3	10072	broad.mit.edu	37	chr11	66252660	66252660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggcgttcctggtctatgCcgcgggtgtttactccaaca	6	12	11	12	3	2	0	1	0	1	0	4	0	4	0	3	3	3	2	3	3	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:66252660C>T	ENST00000360510.2	+	3	352	c.287C>T	c.(286-288)gCc>gTc	p.A96V	DPP3_ENST00000453114.1_Missense_Mutation_p.A96V|DPP3_ENST00000532677.1_Missense_Mutation_p.A115V|DPP3_ENST00000531863.1_Missense_Mutation_p.A116V|DPP3_ENST00000530165.1_Intron|DPP3_ENST00000541961.1_Missense_Mutation_p.A96V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	96					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTCTATGCCGCGGGTGTT	0.592																																						uc001oig.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(286-288)gCc>gTc		Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.							94	79	84					11																	66252660		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66252660C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.287C>T	11.37:g.66252660C>T	ENSP00000353701:p.Ala96Val					DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	p.A96V	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN			2	349	+			96					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.287C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611084	0.46631	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000347422;ENST00000531354	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.0	5.0	0.66597	.	0.053275	0.85682	D	0.000000	T	0.35393	0.0930	L	0.33753	1.03	0.58432	D	0.999996	B	0.21071	0.051	B	0.17979	0.02	T	0.18147	-1.0346	10	0.62326	D	0.03	.	15.8206	0.78638	0.0:1.0:0.0:0.0	.	96	Q9NY33	DPP3_HUMAN	V	116;115;96;96;96;96;96	ENSP00000432782:A116V;ENSP00000435284:A115V;ENSP00000353701:A96V;ENSP00000389943:A96V;ENSP00000440502:A96V;ENSP00000432618:A96V	ENSP00000309957:A96V	A	+	2	0	DPP3	66009236	1.000000	0.71417	0.597000	0.28824	0.379000	0.30106	6.731000	0.74785	2.331000	0.79229	0.467000	0.42956	GCC		0.592	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			T	66252660	C	T	66252660	3	4	153	1	0	0	0	0	1	0	0	0	4728	739	26	3	293	3	DPP3	11	66252660	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	3953148	66252660	68753856	110	10700											
MMP7	4316	broad.mit.edu	37	chr11	102395756	102395756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaaaggcatgagccagcGtgtttcctggcccatcaaat	10	8	11	12	2	1	1	1	1	0	0	2	1	2	1	3	2	2	3	3	2	2	1	rs542899524		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:102395756G>A	ENST00000260227.4	-	4	576	c.524C>T	c.(523-525)aCg>aTg	p.T175M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	175					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	ATGAGCCAGCGTGTTTCCTGG	0.478													G|||	1	0.000199681	0	0	5008	,	,		15796	0.001		0	False		,,,				2504	0					uc001phb.3																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(523-525)aCg>aTg		Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.							96	80	86					11																	102395756		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102395756G>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.524C>T	11.37:g.102395756G>A	ENSP00000260227:p.Thr175Met					MMP7_uc009yxd.3_Missense_Mutation_p.T175M	p.T175M	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	3	571	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	175					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.524C>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887638	0.52014	.	.	ENSG00000137673	ENST00000260227	T	0.21734	1.99	5.12	2.21	0.28008	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.208606	0.33144	N	0.005226	T	0.45216	0.1331	M	0.92649	3.33	0.09310	N	0.999999	D;D	0.60575	0.973;0.988	P;P	0.57324	0.749;0.818	T	0.40098	-0.9581	10	0.59425	D	0.04	-29.6816	8.8158	0.34996	0.293:0.0:0.707:0.0	.	175;175	Q53GF1;P09237	.;MMP7_HUMAN	M	175	ENSP00000260227:T175M	ENSP00000260227:T175M	T	-	2	0	MMP7	101900966	0.000000	0.05858	0.710000	0.30468	0.797000	0.45037	0.050000	0.14120	0.578000	0.29487	0.655000	0.94253	ACG		0.478	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			A	102395756	G	A	102395756	3	1	153	1	0	0	0	0	1	0	0	0	9667	1145	40	1	291	1	MMP7	11	102395756	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	36143096	102395756	32610760	111	10701											
PPP2R1B	5519	broad.mit.edu	37	chr11	111631562	111631562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgatttctgctttaaCagcatttgatgccctgggat	7	16	9	9	0	2	2	0	2	2	0	2	3	2	3	1	1	4	2	1	1	1	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:111631562C>G	ENST00000527614.1	-	4	585	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.V110L|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.V174L|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.V174L|PPP2R1B_ENST00000427203.2_Intron|PPP2R1B_ENST00000393055.2_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	174					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTGCTTTAACAGCATTTGAT	0.438																																						uc001plw.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(520-522)Gtt>Ctt		Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.							73	68	70					11																	111631562		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111631562C>G	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.520G>C	11.37:g.111631562C>G	ENSP00000437193:p.Val174Leu					PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc001plx.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron|PPP2R1B_uc010rwj.1_Intron	p.V174L	NM_181699	NP_859050	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	3	604	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	174					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.520G>C	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510270	0.27036	.	.	ENSG00000137713	ENST00000311129;ENST00000426998;ENST00000527614;ENST00000341980	T;T;T;T	0.06142	3.34;3.34;3.34;3.34	6.17	-0.166	0.13351	Armadillo-like helical (1);Armadillo-type fold (1);	0.172219	0.50627	N	0.000113	T	0.03305	0.0096	N	0.20445	0.575	0.80722	D	1	B;B;B;B	0.13594	0.008;0.002;0.001;0.001	B;B;B;B	0.17433	0.018;0.001;0.004;0.008	T	0.50021	-0.8876	10	0.15066	T	0.55	-1.6272	6.2062	0.20604	0.0:0.5184:0.119:0.3626	.	174;110;174;174	F8W8G1;B4DWW5;P30154;P30154-2	.;.;2AAB_HUMAN;.	L	174;110;174;174	ENSP00000311344:V174L;ENSP00000410671:V110L;ENSP00000437193:V174L;ENSP00000343317:V174L	ENSP00000311344:V174L	V	-	1	0	PPP2R1B	111136772	0.990000	0.36364	0.968000	0.41197	0.829000	0.46940	1.531000	0.36018	-0.268000	0.09312	0.655000	0.94253	GTT		0.438	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		G	111631562	C	G	111631562	3	3	153	1	0	0	0	0	1	0	0	0	12383	478	17	5	1556	5	PPP2R1B	11	111631562	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	9235806	111631562	23374954	112	10702											
OR8D1	283159	broad.mit.edu	37	chr11	124180313	124180313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catagcgatcatatgccatgGcagtcaggaggtaaccctca	12	8	10	11	1	3	0	3	0	0	0	3	2	3	1	2	3	3	2	2	3	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124180313G>C	ENST00000357821.2	-	1	420	c.350C>G	c.(349-351)gCc>gGc	p.A117G		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATATGCCATGGCAGTCAGGAG	0.478																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(349-351)gCc>gGc		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							78	71	73					11																	124180313		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180313G>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.350C>G	11.37:g.124180313G>C	ENSP00000350474:p.Ala117Gly						p.A117G	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	350	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.350C>G	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.802275	0.31869	.	.	ENSG00000196341	ENST00000357821	T	0.03124	4.04	4.29	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.478549	0.15041	U	0.283863	T	0.13500	0.0327	M	0.89478	3.035	0.09310	N	1	D	0.55385	0.971	P	0.54431	0.752	T	0.04090	-1.0978	10	0.87932	D	0	.	8.3887	0.32516	0.4186:0.0:0.5814:0.0	.	117	Q8WZ84	OR8D1_HUMAN	G	117	ENSP00000350474:A117G	ENSP00000350474:A117G	A	-	2	0	OR8D1	123685523	0.000000	0.05858	0.046000	0.18839	0.070000	0.16714	-1.197000	0.03038	0.390000	0.25115	0.508000	0.49915	GCC		0.478	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		C	124180313	G	C	124180313	3	2	153	1	0	0	0	0	1	0	0	0	11231	1203	42	5	579	5	OR8D1	11	124180313	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	12548751	124180313	10826203	113	10703											
CCDC15	80071	broad.mit.edu	37	chr11	124910501	124910501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcatatactcgggcacTacattcattcatcaattcct	11	13	5	12	1	3	0	3	0	0	0	5	0	4	0	1	1	4	3	1	1	4	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124910501T>C	ENST00000344762.5	+	16	3009	c.2750T>C	c.(2749-2751)cTa>cCa	p.L917P	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.L928P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	917						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACTCGGGCACTACATTCATTC	0.393																																						uc001qbm.4																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2749-2751)cTa>cCa		Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.							61	61	61					11																	124910501		1848	4089	5937	SO:0001583	missense	80071					centrosome		g.chr11:124910501T>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2750T>C	11.37:g.124910501T>C	ENSP00000341684:p.Leu917Pro						p.L917P	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	15	3009	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	917					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2750T>C	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797432	0.70567	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.63580	0.16;-0.05	5.13	5.13	0.70059	.	.	.	.	.	T	0.76870	0.4048	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.79667	-0.1708	9	0.87932	D	0	-5.1244	14.0603	0.64795	0.0:0.0:0.0:1.0	.	917	Q0P6D6	CCD15_HUMAN	P	928;917	ENSP00000435403:L928P;ENSP00000341684:L917P	ENSP00000341684:L917P	L	+	2	0	CCDC15	124415711	0.958000	0.32768	0.771000	0.31576	0.979000	0.70002	5.139000	0.64801	2.150000	0.67090	0.533000	0.62120	CTA		0.393	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		C	124910501	T	C	124910501	3	2	153	1	0	0	0	0	1	0	0	0	2784	1522	53	4	2808	4	CCDC15	11	124910501	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	730188	124910501	10096015	114	10704											
VWF	7450	broad.mit.edu	37	chr12	6153612	6153612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccgacaggataggctccTtttgcctcgaaggtaggaaa	10	8	14	9	2	0	0	0	0	0	0	2	4	1	2	3	5	1	2	3	5	4	4	rs61748469		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:6153612T>C	ENST00000261405.5	-	18	2541	c.2287A>G	c.(2287-2289)Agg>Ggg	p.R763G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	763					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATAGGCTCCTTTTGCCTCGA	0.522																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM064355	VWF	M		c.(2287-2289)Agg>Ggg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						51	47	48					12																	6153612		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153612T>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2287A>G	12.37:g.6153612T>C	ENSP00000261405:p.Arg763Gly					VWF_uc010set.1_Intron	p.R763G	NM_000552	NP_000543	P04275	VWF_HUMAN			17	2537	-			763					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2287A>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480154	0.63849	.	.	ENSG00000110799	ENST00000261405	T	0.36699	1.24	4.11	2.92	0.33932	.	0.000000	0.40554	N	0.001070	T	0.37892	0.1020	M	0.77820	2.39	0.80722	D	1	B	0.27351	0.176	B	0.24974	0.057	T	0.28459	-1.0043	10	0.56958	D	0.05	.	9.797	0.40742	0.0:0.0:0.1738:0.8262	rs61748469	763	P04275	VWF_HUMAN	G	763	ENSP00000261405:R763G	ENSP00000261405:R763G	R	-	1	2	VWF	6023873	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.379000	0.34340	0.606000	0.29965	0.460000	0.39030	AGG		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6153612	T	C	6153612	3	2	153	1	0	0	0	0	1	0	0	0	17243	1608	56	4	6294	4	VWF	12	6153612	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08		6153612	127698283	115	10705											
A2M	2	broad.mit.edu	37	chr12	9251275	9251275	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcacggagggcgcagacGgactgaggagccgctgtgac	10	3	17	11	4	0	3	0	2	0	1	0	6	0	6	1	4	2	3	1	4	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:9251275G>C	ENST00000318602.7	-	15	2086	c.1779C>G	c.(1777-1779)tcC>tcG	p.S593S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	593					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGGCGCAGACGGACTGAGGAG	0.582																																						uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1777-1779)tcC>tcG		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)						40	41	40					12																	9251275		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9251275G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1779C>G	12.37:g.9251275G>C						A2M_uc009zgk.1_Silent_p.S443S	p.S593S	NM_000014	NP_000005	P01023	A2MG_HUMAN			14	1892	-			593					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1779C>G	CCDS44827.1																																																																																				0.582	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9251275	G	C	9251275	2	2	153	1	0	0	0	0	0	0	0	1	4	1103	39	5		5	A2M	12	9251275	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3097663	9251275	124600620	116	10706											
MLL2	8085	broad.mit.edu	37	chr12	49416568	49416568	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgagatgacttggagtgCacaaactgcttgctgtaggg	10	11	13	7	0	0	2	0	2	0	1	0	4	0	3	0	2	5	4	0	2	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:49416568C>A	ENST00000301067.7	-	51	16142	c.16143G>T	c.(16141-16143)gtG>gtT	p.V5381V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5381					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACTTGGAGTGCACAAACTGCT	0.587																																						uc001rta.4										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(16141-16143)gtG>gtT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							117	130	126					12																	49416568		2109	4232	6341	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49416568C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16143G>T	12.37:g.49416568C>A		HNSCC(34;0.089)					p.V5381V	NM_003482	NP_003473	O14686	MLL2_HUMAN			50	16143	-			5381					O14687	Silent	SNP	ENST00000301067.7	37	c.16143G>T	CCDS44873.1																																																																																				0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49416568	C	A	49416568	2	1	153	1	0	0	0	0	0	0	0	1	9621	697	25	5		5	MLL2	12	49416568	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	40165293	49416568	84435327	117	10707											
KRT84	3890	broad.mit.edu	37	chr12	52771859	52771859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggacacaaagcGgacgctggagctgcggccgc	7	5	19	10	4	0	0	0	0	0	0	0	3	0	3	1	7	3	2	1	7	1	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52771859G>A	ENST00000257951.3	-	9	1828	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	588	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACAAAGCGGACGCTGGAG	0.677																																						uc001sah.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(1762-1764)Cgc>Tgc		Homo sapiens keratin 84 (KRT84), mRNA.							20	20	20					12																	52771859		2201	4295	6496	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52771859G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1762C>T	12.37:g.52771859G>A	ENSP00000257951:p.Arg588Cys						p.R588C	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	8	1810	-	all_hematologic(5;0.12)		588			Tail.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1762C>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245425	0.22796	.	.	ENSG00000161849	ENST00000257951	D	0.82803	-1.65	3.75	3.75	0.43078	.	0.236039	0.22094	N	0.064701	T	0.75413	0.3846	N	0.14661	0.345	0.36669	D	0.878361	D	0.76494	0.999	P	0.50082	0.63	T	0.81927	-0.0709	10	0.87932	D	0	.	11.2604	0.49080	0.0:0.0:1.0:0.0	.	588	Q9NSB2	KRT84_HUMAN	C	588	ENSP00000257951:R588C	ENSP00000257951:R588C	R	-	1	0	KRT84	51058126	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	4.495000	0.60353	2.095000	0.63458	0.462000	0.41574	CGC		0.677	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52771859	G	A	52771859	3	1	153	1	0	0	0	0	1	0	0	0	8498	1116	39	2	44	2	KRT84	12	52771859	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3355291	52771859	81080036	118	10708											
KRT74	121391	broad.mit.edu	37	chr12	52960950	52960950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgctactgctgatgaCagctgaggaggaggggccaa	10	7	16	8	0	0	3	0	3	0	0	0	5	0	5	1	4	5	5	1	4	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52960950C>T	ENST00000305620.2	-	9	1440	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	KRT74_ENST00000549343.1_Missense_Mutation_p.V479I	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	465	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607																																						uc001sap.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1393-1395)Gtc>Atc		Homo sapiens keratin 74 (KRT74), mRNA.							23	22	22					12																	52960950		2203	4299	6502	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52960950C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1393G>A	12.37:g.52960950C>T	ENSP00000307240:p.Val465Ile						p.V465I	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	8	1441	-			465			Tail.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1393G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	8.556	0.876589	0.17395	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.83075	-1.68;-1.68	4.39	2.56	0.30785	.	0.262304	0.20304	N	0.094974	T	0.76343	0.3974	L	0.56280	1.765	0.28144	N	0.929677	B	0.02656	0.0	B	0.01281	0.0	T	0.68823	-0.5307	10	0.62326	D	0.03	.	6.922	0.24393	0.0:0.7864:0.0:0.2136	.	465	Q7RTS7	K2C74_HUMAN	I	479;465	ENSP00000447447:V479I;ENSP00000307240:V465I	ENSP00000307240:V465I	V	-	1	0	KRT74	51247217	0.000000	0.05858	0.605000	0.28930	0.183000	0.23260	-0.772000	0.04694	0.602000	0.29896	-0.137000	0.14449	GTC		0.607	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		T	52960950	C	T	52960950	3	4	153	1	0	0	0	0	1	0	0	0	8487	478	17	3	200	3	KRT74	12	52960950	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	189091	52960950	80890945	119	10709											
ZBTB39	9880	broad.mit.edu	37	chr12	57397937	57397937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaagctgtttttactGaagtctccattgctttgaac	9	15	10	7	0	1	3	0	3	1	0	2	4	1	4	1	1	4	3	1	1	4	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:57397937G>T	ENST00000300101.2	-	2	850	c.765C>A	c.(763-765)ttC>ttA	p.F255L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTTTTTACTGAAGTCTCCAT	0.517																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(763-765)ttC>ttA		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							78	70	73					12																	57397937		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397937G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.765C>A	12.37:g.57397937G>T	ENSP00000300101:p.Phe255Leu					ZBTB39_uc021qzg.1_Missense_Mutation_p.F255L	p.F255L	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	918	-			255					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.765C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	6.591	0.477311	0.12521	.	.	ENSG00000166860	ENST00000300101	T	0.08008	3.14	5.29	3.32	0.38043	.	0.503034	0.20536	N	0.090416	T	0.05273	0.0140	N	0.19112	0.55	0.28400	N	0.918693	P	0.34662	0.462	B	0.29077	0.098	T	0.21724	-1.0237	10	0.66056	D	0.02	-19.0479	8.9735	0.35921	0.1943:0.0:0.8057:0.0	.	255	O15060	ZBT39_HUMAN	L	255	ENSP00000300101:F255L	ENSP00000300101:F255L	F	-	3	2	ZBTB39	55684204	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	1.608000	0.36847	1.459000	0.47892	0.650000	0.86243	TTC		0.517	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		T	57397937	G	T	57397937	3	4	153	1	0	0	0	0	1	0	0	0	17537	1281	45	5	1377	5	ZBTB39	12	57397937	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4436987	57397937	76453958	120	10710											
OS9	10956	broad.mit.edu	37	chr12	58112083	58112083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagatgaggatgaacGgcagttactgggagaatttg	13	9	16	3	1	0	5	0	3	0	2	0	8	0	7	0	4	2	2	0	4	4	2	rs193011962		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:58112083G>A	ENST00000315970.7	+	11	1330	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	OS9_ENST00000389142.5_Missense_Mutation_p.R430Q|OS9_ENST00000551035.1_Missense_Mutation_p.R398Q|OS9_ENST00000435406.2_Missense_Mutation_p.R378Q|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Missense_Mutation_p.R224Q|OS9_ENST00000439210.2_Missense_Mutation_p.R371Q|OS9_ENST00000552285.1_Missense_Mutation_p.R430Q|OS9_ENST00000389146.6_Missense_Mutation_p.R430Q|OS9_ENST00000257966.8_Missense_Mutation_p.R431Q	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	430					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.R430Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			gaggatgaACGGCAGTTACTG	0.547																																						uc001spj.3																			1	Substitution - Missense(1)	p.R430Q(2)	endometrium(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(1288-1290)cGg>cAg		Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.							227	195	205					12																	58112083		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58112083G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1289G>A	12.37:g.58112083G>A	ENSP00000318165:p.Arg430Gln					OS9_uc010srx.2_Missense_Mutation_p.R224Q|OS9_uc001spk.3_Missense_Mutation_p.R430Q|OS9_uc001spl.3_Missense_Mutation_p.R430Q|OS9_uc001spm.3_Missense_Mutation_p.R430Q|OS9_uc001spn.3_Missense_Mutation_p.R431Q|OS9_uc010sry.2_Missense_Mutation_p.R398Q|OS9_uc010srz.2_Missense_Mutation_p.R371Q	p.R430Q	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1496	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		430					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1289G>A	CCDS31843.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.759	0.923047	0.18056	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.29397	2.04;2.04;2.0;2.03;1.57;2.01;2.01;2.01;2.03	5.54	0.137	0.14787	.	0.687185	0.14284	N	0.329354	T	0.11793	0.0287	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B;B	0.27192	0.123;0.012;0.171;0.015;0.007;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.22152	0.005;0.005;0.038;0.002;0.002;0.001;0.001;0.001	T	0.32508	-0.9904	10	0.05959	T	0.93	.	11.3609	0.49642	0.5767:0.0:0.4233:0.0	.	371;398;224;431;430;430;430;430	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	Q	430;430;371;430;224;398;431;378;430	ENSP00000450010:R430Q;ENSP00000318165:R430Q;ENSP00000407360:R371Q;ENSP00000373798:R430Q;ENSP00000413112:R224Q;ENSP00000447866:R398Q;ENSP00000257966:R431Q;ENSP00000389632:R378Q;ENSP00000373794:R430Q	ENSP00000257966:R431Q	R	+	2	0	OS9	56398350	0.001000	0.12720	0.360000	0.25837	0.942000	0.58702	-0.186000	0.09670	-0.363000	0.08101	-0.797000	0.03246	CGG		0.547	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		A	58112083	G	A	58112083	3	1	153	1	0	0	0	0	1	0	0	0	11272	1116	39	2	1331	2	OS9	12	58112083	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	714146	58112083	75739812	121	10711											
PAH	5053	broad.mit.edu	37	chr12	103246597	103246597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggacagtactcacggttCgggggtatacatgggcttgg	8	9	17	7	2	1	0	1	0	0	0	2	2	1	2	0	7	2	4	0	7	3	5	rs199475668|rs62508698|rs281865429		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:103246597C>T	ENST00000553106.1	-	7	1310	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	PAH_ENST00000307000.2_Missense_Mutation_p.E275K|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	280			E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity). {ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:2564729, ECO:0000269|PubMed:8889590}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCACGGTTCGGGGGTATAC	0.547																																						uc001tjq.1																			0		p.P279L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CM890094	PAH	M	rs62508698	c.(838-840)Gaa>Aaa		Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	C	LYS/GLU	0,4406		0,0,2203	133	127	129	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	838	5.7	1	12	dbSNP_129	129	2,8598	2.2+/-6.3	0,2,4298	no	missense	PAH	NM_000277.1	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	280/453	103246597	2,13004	2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246597C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.838G>A	12.37:g.103246597C>T	ENSP00000448059:p.Glu280Lys						p.E280K	NM_000277	NP_000268	P00439	PH4H_HUMAN			6	1311	-			280		E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.838G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956694	0.92726	0.0	2.33E-4	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99755	-6.64;-6.64	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	H	0.99104	4.43	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96231	0.9168	9	0.87932	D	0	.	19.8956	0.96956	0.0:1.0:0.0:0.0	.	280	P00439	PH4H_HUMAN	K	280;275	ENSP00000448059:E280K;ENSP00000303500:E275K	ENSP00000303500:E275K	E	-	1	0	PAH	101770727	1.000000	0.71417	0.973000	0.42090	0.358000	0.29455	7.818000	0.86416	2.708000	0.92522	0.563000	0.77884	GAA		0.547	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			T	103246597	C	T	103246597	3	4	153	1	0	0	0	0	1	0	0	0	11394	893	31	2	548	2	PAH	12	103246597	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45134514	103246597	30605298	122	10712											
TCTN2	79867	broad.mit.edu	37	chr12	124156084	124156084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttttatccgaatgtccgGccctgcggtcagcgcgtccc	4	11	10	16	5	1	0	1	0	0	0	5	1	5	0	5	2	2	0	5	2	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:124156084G>A	ENST00000303372.5	+	2	241	c.113G>A	c.(112-114)gGc>gAc	p.G38D	TCTN2_ENST00000426174.2_Missense_Mutation_p.G38D	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	38					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGAATGTCCGGCCCTGCGGTC	0.617																																						uc001ufp.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(112-114)gGc>gAc		Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.							82	77	79					12																	124156084		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124156084G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.113G>A	12.37:g.124156084G>A	ENSP00000304941:p.Gly38Asp					TCTN2_uc009zya.3_Missense_Mutation_p.G38D	p.G38D	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	1	241	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		38					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.113G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.030051	0.35797	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.84146	-1.81;-1.81	4.65	4.65	0.58169	.	0.350112	0.30151	N	0.010281	T	0.81861	0.4912	L	0.54323	1.7	0.39501	D	0.968202	B;B	0.33494	0.414;0.414	B;B	0.28638	0.092;0.092	D	0.84533	0.0634	10	0.72032	D	0.01	-7.7042	16.2433	0.82426	0.0:0.0:1.0:0.0	.	38;38	A8K7Y8;Q96GX1	.;TECT2_HUMAN	D	38	ENSP00000395171:G38D;ENSP00000304941:G38D	ENSP00000304941:G38D	G	+	2	0	TCTN2	122722037	0.978000	0.34361	0.216000	0.23742	0.208000	0.24298	3.461000	0.53035	2.519000	0.84933	0.650000	0.86243	GGC		0.617	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		A	124156084	G	A	124156084	3	1	153	1	0	0	0	0	1	0	0	0	15720	1203	42	3	119	3	TCTN2	12	124156084	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20909487	124156084	9695811	123	10713											
RNF17	56163	broad.mit.edu	37	chr13	25363875	25363875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcatctgtatgttcaaCaatatgggaaagattgaatt	15	13	9	4	0	3	3	2	1	1	2	3	5	3	4	0	1	1	2	0	1	6	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:25363875C>A	ENST00000255324.5	+	9	952	c.900C>A	c.(898-900)aaC>aaA	p.N300K	RNF17_ENST00000381921.1_Missense_Mutation_p.N300K|RNF17_ENST00000255325.6_Missense_Mutation_p.N300K|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	300					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATGTTCAACAATATGGGAA	0.308																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(898-900)aaC>aaA		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							165	166	166					13																	25363875		2203	4296	6499	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25363875C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.900C>A	13.37:g.25363875C>A	ENSP00000255324:p.Asn300Lys					RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010tde.2_Missense_Mutation_p.N300K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	p.N300K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	8	941	+		Lung SC(185;0.0225)|Breast(139;0.077)	300					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.900C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292392	0.10567	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.16324	3.63;3.63;2.35	4.85	1.93	0.25924	.	0.362765	0.23863	N	0.043838	T	0.06416	0.0165	N	0.11560	0.145	0.24812	N	0.992634	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.11329	0.0;0.0;0.006	T	0.40421	-0.9564	10	0.07175	T	0.84	.	5.6205	0.17455	0.4445:0.459:0.0:0.0966	.	300;300;300	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	K	300;300;159;301;300	ENSP00000255324:N300K;ENSP00000371346:N300K;ENSP00000255325:N301K	ENSP00000255324:N300K	N	+	3	2	RNF17	24261875	1.000000	0.71417	0.729000	0.30791	0.983000	0.72400	0.901000	0.28445	0.658000	0.30925	-0.158000	0.13435	AAC		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		A	25363875	C	A	25363875	3	1	153	1	0	0	0	0	1	0	0	0	13461	477	17	5	934	5	RNF17	13	25363875	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		25363875	89806003	124	10714											
BRCA2	675	broad.mit.edu	37	chr13	32903619	32903619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgtatttcctcatgAtactactgctgtaagtaaat	13	15	6	7	0	1	2	1	2	0	0	2	2	2	2	1	0	4	4	1	0	7	6	rs397507878		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:32903619A>T	ENST00000380152.3	+	8	904	c.671A>T	c.(670-672)gAt>gTt	p.D224V	BRCA2_ENST00000544455.1_Missense_Mutation_p.D224V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	224					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCCTCATGATACTACTGCT	0.259			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM085287	BRCA2	M		c.(670-672)gAt>gTt	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							58	57	57					13																	32903619		2199	4283	6482	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32903619A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.671A>T	13.37:g.32903619A>T	ENSP00000369497:p.Asp224Val	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Missense_Mutation_p.D101V	p.D224V	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	7	898	+		Lung SC(185;0.0262)	224					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.671A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.638647	0.67130	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01092	5.35;5.35	5.54	4.36	0.52297	.	0.177858	0.39407	N	0.001363	T	0.03651	0.0104	L	0.49126	1.545	0.51012	D	0.999907	D;D	0.89917	0.999;1.0	D;D	0.71414	0.95;0.973	T	0.43327	-0.9398	10	0.87932	D	0	.	7.6191	0.28175	0.9066:0.0:0.0934:0.0	.	224;224	P51587;A1YBP1	BRCA2_HUMAN;.	V	224;224;222	ENSP00000369497:D224V;ENSP00000439902:D224V	ENSP00000369497:D224V	D	+	2	0	BRCA2	31801619	0.114000	0.22134	0.899000	0.35326	0.949000	0.60115	1.804000	0.38873	2.234000	0.73211	0.459000	0.35465	GAT		0.259	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		T	32903619	A	T	32903619	3	4	153	1	0	0	0	0	1	0	0	0	1499	333	12	5	697	5	BRCA2	13	32903619	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	7539744	32903619	82266259	125	10715											
TUBGCP3	10426	broad.mit.edu	37	chr13	113181294	113181294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttggtcacagctatcAtctttgtagtgggagtctga	9	13	11	8	0	4	2	2	1	2	1	4	3	4	3	0	2	1	2	0	2	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:113181294A>T	ENST00000261965.3	-	13	1703	c.1517T>A	c.(1516-1518)aTg>aAg	p.M506K	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.M506K	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	506					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACAGCTATCATCTTTGTAGT	0.413																																						uc001vse.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1516-1518)aTg>aAg		Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.							196	156	169					13																	113181294		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181294A>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1517T>A	13.37:g.113181294A>T	ENSP00000261965:p.Met506Lys					TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.M506K	p.M506K	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			12	1704	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		506					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1517T>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244533	0.22796	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.06449	3.3;3.3	4.67	4.67	0.58626	.	0.112845	0.64402	D	0.000001	T	0.01905	0.0060	N	0.01352	-0.895	0.44447	D	0.997379	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.38001	-0.9681	10	0.05959	T	0.93	-31.4113	8.8329	0.35096	0.9145:0.0:0.0855:0.0	.	496;506;506	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	K	506	ENSP00000261965:M506K;ENSP00000364821:M506K	ENSP00000261965:M506K	M	-	2	0	TUBGCP3	112229295	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	6.725000	0.74752	1.751000	0.51876	0.165000	0.16767	ATG		0.413	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		T	113181294	A	T	113181294	3	4	153	1	0	0	0	0	1	0	0	0	16764	217	8	5	1246	5	TUBGCP3	13	113181294	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	80277675	113181294	1988584	126	10716											
TGM1	7051	broad.mit.edu	37	chr14	24729739	24729739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcgtctgattgtgtgCggactgtgaactgaaacttg	8	11	12	10	2	1	3	0	3	1	0	1	4	1	4	2	1	4	0	2	1	2	2	rs549195122		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24729739C>T	ENST00000206765.6	-	4	797	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	225			R -> H (in ARCI1).|R -> P (in ARCI1).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587																																						uc001wod.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24	GRCh37	CM981915	TGM1	M		c.(673-675)cGc>cAc		Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	L-Glutamine(DB00130)						193	163	173					14																	24729739		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729739C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.674G>A	14.37:g.24729739C>T	ENSP00000206765:p.Arg225His					TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	p.R225H	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	798	-			225		R -> H (in ARCI-TGM1).|R -> P (in ARCI-TGM1).			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.674G>A	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965181	0.53507	.	.	ENSG00000092295	ENST00000206765	D	0.84660	-1.88	6.02	6.02	0.97574	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.400337	0.29376	N	0.012331	D	0.85168	0.5635	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.83872	0.0274	10	0.44086	T	0.13	-23.9883	9.3387	0.38067	0.0:0.8486:0.0:0.1514	.	225	P22735	TGM1_HUMAN	H	225	ENSP00000206765:R225H	ENSP00000206765:R225H	R	-	2	0	TGM1	23799579	0.966000	0.33281	0.997000	0.53966	0.326000	0.28443	1.335000	0.33839	2.865000	0.98341	0.655000	0.94253	CGC		0.587	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		T	24729739	C	T	24729739	3	4	153	1	0	0	0	0	1	0	0	0	15826	768	27	1	1827	1	TGM1	14	24729739	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		24729739	82619801	127	10717											
NYNRIN	57523	broad.mit.edu	37	chr14	24886187	24886187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcctccctgcctttgctGcacctggccttcagggcctc	2	10	11	18	1	1	0	1	0	0	0	3	0	2	0	6	3	3	2	6	3	0	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24886187G>A	ENST00000382554.3	+	9	5550	c.5232G>A	c.(5230-5232)ctG>ctA	p.L1744L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1744	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTTTGCTGCACCTGGCCT	0.622																																						uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5230-5232)ctG>ctA		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							25	28	27					14																	24886187		2045	4189	6234	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886187G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5232G>A	14.37:g.24886187G>A							p.L1744L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			8	5550	+			1744			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5232G>A	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24886187	G	A	24886187	2	1	153	1	0	0	0	0	0	0	0	1	10796	1306	46	3		3	NYNRIN	14	24886187	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	156448	24886187	82463353	128	10718											
FOXA1	3169	broad.mit.edu	37	chr14	38061688	38061688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtacccatggccgtcaCgccggccgcagtcatgctgt	5	7	12	17	6	2	0	2	0	0	0	2	0	2	0	5	2	2	3	5	2	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:38061688C>T	ENST00000250448.2	-	2	362	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	FOXA1_ENST00000540786.1_Missense_Mutation_p.V68M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	101					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ATGGCCGTCACGCCGGCCGCA	0.741																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(301-303)Gtg>Atg		Homo sapiens forkhead box A1 (FOXA1), mRNA.							19	20	19					14																	38061688		2131	4147	6278	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061688C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.301G>A	14.37:g.38061688C>T	ENSP00000250448:p.Val101Met					FOXA1_uc010tpz.2_Missense_Mutation_p.V68M	p.V101M	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	613	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		101					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.301G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346212	0.41599	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.15487	2.42;2.42	4.2	4.2	0.49525	Fork-head N-terminal (1);	0.237375	0.33419	N	0.004931	T	0.12689	0.0308	L	0.27053	0.805	0.48395	D	0.999646	B	0.34226	0.443	B	0.31946	0.138	T	0.14392	-1.0474	10	0.21014	T	0.42	.	16.3284	0.82996	0.0:1.0:0.0:0.0	.	101	P55317	FOXA1_HUMAN	M	101;68	ENSP00000250448:V101M;ENSP00000440178:V68M	ENSP00000250448:V101M	V	-	1	0	FOXA1	37131439	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	3.391000	0.52530	2.164000	0.68074	0.511000	0.50034	GTG		0.741	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			T	38061688	C	T	38061688	3	4	153	1	0	0	0	0	1	0	0	0	5989	536	19	1	1121	1	FOXA1	14	38061688	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13175501	38061688	69287852	129	10719											
PPM1A	5494	broad.mit.edu	37	chr14	60749967	60749967	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatgcaggtggctctgtAatgattcagcgtgtgaatgg	10	11	14	6	1	2	3	1	2	1	1	2	3	2	3	0	3	2	3	0	3	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:60749967A>G	ENST00000395076.4	+	2	976	c.546A>G	c.(544-546)gtA>gtG	p.V182V	PPM1A_ENST00000325642.3_Silent_p.V255V|PPM1A_ENST00000325658.3_Silent_p.V182V|PPM1A_ENST00000529574.1_Silent_p.V182V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	182					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GTGGCTCTGTAATGATTCAGC	0.443																																						uc001xew.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(763-765)gtA>gtG		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.							91	88	89					14																	60749967		2203	4300	6503	SO:0001819	synonymous_variant	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749967A>G	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9275	protein-coding gene	gene with protein product	"phosphatase 2C alpha", "protein phosphatase 2C, alpha isoform"	606108	"protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.546A>G	14.37:g.60749967A>G						PPM1A_uc010apn.3_Silent_p.V182V|PPM1A_uc001xex.4_Silent_p.V182V|PPM1A_uc001xey.4_Silent_p.V182V	p.V255V	NM_177952	NP_808821	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	1	861	+			182					B5BU11|J3KNM0|O75551	Silent	SNP	ENST00000395076.4	37	c.765A>G	CCDS9744.1																																																																																				0.443	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		G	60749967	A	G	60749967	2	3	153	1	0	0	0	0	0	0	0	1	12335	349	13	4		4	PPM1A	14	60749967	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	22688279	60749967	46599573	130	10720											
AHNAK2	113146	broad.mit.edu	37	chr14	105409035	105409035	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgacgggggtcatcacAtccgccttggggcctttcag	6	9	12	14	3	3	0	3	0	0	0	5	1	5	0	4	4	0	0	4	4	0	2	rs367653109		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:105409035A>G	ENST00000333244.5	-	7	12872	c.12753T>C	c.(12751-12753)gaT>gaC	p.D4251D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4251						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTCATCACATCCGCCTTGG	0.642																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12751-12753)gaT>gaC		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							118	130	126					14																	105409035		1909	4118	6027	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409035A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12753T>C	14.37:g.105409035A>G						AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D4151D	p.D4251D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	12873	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4251					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12753T>C	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105409035	A	G	105409035	2	3	153	1	0	0	0	0	0	0	0	1	415	214	8	4		4	AHNAK2	14	105409035	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	44659068	105409035	1940505	131	10721											
GABRB3	2562	broad.mit.edu	37	chr15	26866466	26866466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaggcacacagacctgagCccatacagcactgtcccatc	13	5	8	15	0	0	3	0	1	0	2	2	3	1	3	3	1	3	2	3	1	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:26866466C>G	ENST00000311550.5	-	4	567	c.456G>C	c.(454-456)ggG>ggC	p.G152G	GABRB3_ENST00000545868.1_Silent_p.G67G|GABRB3_ENST00000299267.4_Silent_p.G152G|GABRB3_ENST00000541819.2_Silent_p.G208G|GABRB3_ENST00000400188.3_Silent_p.G81G	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	152					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.G152G(2)|p.G208G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGACCTGAGCCCATACAGCA	0.448																																						uc001zbb.3																			3	Substitution - coding silent(3)	p.G152G(2)|p.G208G(1)	endometrium(3)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(622-624)ggG>ggC		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						131	109	117					15																	26866466		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866466C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.456G>C	15.37:g.26866466C>G						GABRB3_uc021sgg.1_Silent_p.G81G|GABRB3_uc021sgh.1_Silent_p.G67G|GABRB3_uc001zaz.3_Silent_p.G152G|GABRB3_uc001zba.3_Silent_p.G152G|GABRB3_uc001zbc.3_Non-coding_Transcript	p.G208G	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	727	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	152					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.624G>C	CCDS10019.1																																																																																				0.448	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			G	26866466	C	G	26866466	2	3	153	1	0	0	0	0	0	0	0	1	6168	726	26	5		5	GABRB3	15	26866466	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08		26866466	75664926	132	10722											
TCF12	6938	broad.mit.edu	37	chr15	57543615	57543615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatgaaaactcactccaCtccctggtaagagcctctta	12	10	6	13	0	2	2	1	1	1	1	4	2	4	2	3	1	3	2	3	1	5	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:57543615C>G	ENST00000267811.5	+	14	1486	c.1182C>G	c.(1180-1182)caC>caG	p.H394Q	TCF12_ENST00000543579.1_Missense_Mutation_p.H224Q|TCF12_ENST00000343827.3_Missense_Mutation_p.H224Q|TCF12_ENST00000438423.2_Missense_Mutation_p.H394Q|TCF12_ENST00000537840.1_Missense_Mutation_p.H158Q|TCF12_ENST00000559703.1_Missense_Mutation_p.H28Q|TCF12_ENST00000559710.1_Missense_Mutation_p.H28Q|TCF12_ENST00000452095.2_Missense_Mutation_p.H390Q|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Missense_Mutation_p.H394Q|TCF12_ENST00000333725.5_Missense_Mutation_p.H394Q	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	394					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTCACTCCACTCCCTGGTAA	0.448			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1180-1182)caC>caG		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.							135	109	118					15																	57543615		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57543615C>G	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1182C>G	15.37:g.57543615C>G	ENSP00000267811:p.His394Gln					TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.3_Missense_Mutation_p.H394Q|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.H394Q|TCF12_uc002aed.3_Missense_Mutation_p.H394Q|TCF12_uc010ugo.2_Missense_Mutation_p.H158Q|TCF12_uc002aee.3_Missense_Mutation_p.H224Q|TCF12_uc010bft.3_Missense_Mutation_p.H224Q|TCF12_uc010ugp.2_Missense_Mutation_p.H28Q|TCF12_uc010ugq.2_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	p.H394Q	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	13	1466	+		Colorectal(260;0.0907)	394					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1182C>G	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859419	0.91433	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.73	5.73	0.89815	.	0.088881	0.85682	D	0.000000	T	0.78426	0.4281	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.995;0.998;1.0;0.99;0.998;0.999;0.997;0.995;0.997	D;D;D;D;D;D;D;D;D	0.79784	0.979;0.983;0.991;0.989;0.935;0.993;0.991;0.979;0.991	T	0.76729	-0.2852	10	0.51188	T	0.08	-8.1125	20.2786	0.98501	0.0:1.0:0.0:0.0	.	28;224;158;390;446;224;224;394;394	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;HTF4_HUMAN;.	Q	446;394;394;390;394;224;158;224	ENSP00000267811:H394Q;ENSP00000388940:H394Q;ENSP00000396881:H390Q;ENSP00000331057:H394Q;ENSP00000440017:H224Q;ENSP00000444696:H158Q;ENSP00000342459:H224Q	ENSP00000267811:H394Q	H	+	3	2	TCF12	55330907	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.631000	0.61304	2.868000	0.98415	0.557000	0.71058	CAC		0.448	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		G	57543615	C	G	57543615	3	3	153	1	0	0	0	0	1	0	0	0	15684	564	20	5	1305	5	TCF12	15	57543615	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	30677149	57543615	44987777	133	10723											
AQP9	366	broad.mit.edu	37	chr15	58476317	58476317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaaccagagaaatatgaaCtcagtgtcatcatgtagtgg	16	9	9	7	0	3	2	3	1	0	1	3	3	3	2	1	1	2	1	1	1	5	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:58476317C>T	ENST00000219919.4	+	6	1241	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L226F|AQP9_ENST00000536493.1_Missense_Mutation_p.L291F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	291					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAAATATGAACTCAGTGTCAT	0.438																																						uc002aez.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(871-873)Ctc>Ttc		Homo sapiens aquaporin 9 (AQP9), mRNA.							113	105	108					15																	58476317		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58476317C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.871C>T	15.37:g.58476317C>T	ENSP00000219919:p.Leu291Phe					ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	p.L291F	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	5	1228	+			291					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.871C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708333	0.48517	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.85013	-1.93;-1.93	5.84	3.87	0.44632	.	0.205097	0.33834	N	0.004510	T	0.69860	0.3158	N	0.08118	0	0.49582	D	0.999806	B	0.18013	0.025	B	0.18561	0.022	T	0.65886	-0.6059	10	0.42905	T	0.14	.	10.2721	0.43489	0.1348:0.7934:0.0:0.0718	.	291	O43315	AQP9_HUMAN	F	291	ENSP00000219919:L291F;ENSP00000441390:L291F	ENSP00000219919:L291F	L	+	1	0	AQP9	56263609	1.000000	0.71417	0.979000	0.43373	0.887000	0.51463	0.848000	0.27710	1.450000	0.47717	0.655000	0.94253	CTC		0.438	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		T	58476317	C	T	58476317	3	4	153	1	0	0	0	0	1	0	0	0	833	565	20	3	893	3	AQP9	15	58476317	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	932702	58476317	44055075	134	10724											
BNC1	646	broad.mit.edu	37	chr15	83933192	83933192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggggtcctgactttggtCatgaccctgctccaacatat	7	14	9	11	0	1	2	1	2	0	0	3	2	3	2	3	3	2	1	3	3	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:83933192C>G	ENST00000345382.2	-	4	896	c.811G>C	c.(811-813)Gac>Cac	p.D271H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.D264H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	271					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGACTTTGGTCATGACCCTGC	0.488																																						uc002bjt.1																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(811-813)Gac>Cac		Homo sapiens basonuclin 1 (BNC1), mRNA.							96	93	94					15																	83933192		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83933192C>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.811G>C	15.37:g.83933192C>G	ENSP00000307041:p.Asp271His					BNC1_uc010uos.1_Missense_Mutation_p.D259H	p.D271H	NM_001717	NP_001708	Q01954	BNC1_HUMAN			3	899	-			271					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.811G>C	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802412	0.50315	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03272	3.99	5.51	5.51	0.81932	.	0.305128	0.35407	N	0.003225	T	0.15739	0.0379	L	0.54323	1.7	0.44937	D	0.997956	P;D	0.89917	0.913;1.0	P;D	0.87578	0.568;0.998	T	0.00540	-1.1681	10	0.38643	T	0.18	-30.2225	19.4315	0.94772	0.0:1.0:0.0:0.0	.	264;271	F5GY04;Q01954	.;BNC1_HUMAN	H	271;264	ENSP00000307041:D271H	ENSP00000307041:D271H	D	-	1	0	BNC1	81724196	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.092000	0.64511	2.600000	0.87896	0.655000	0.94253	GAC		0.488	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		G	83933192	C	G	83933192	3	3	153	1	0	0	0	0	1	0	0	0	1474	826	29	5	2181	5	BNC1	15	83933192	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	25456875	83933192	18598200	135	10725											
CHSY1	22856	broad.mit.edu	37	chr15	101775678	101775678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttcttctggggcgggtagGagtcgtccacaccccgtagt	6	10	13	12	3	2	0	0	0	2	0	4	1	3	1	3	4	0	2	3	4	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:101775678G>T	ENST00000254190.3	-	2	900	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCGGGTAGGAGTCGTCCAC	0.483																																						uc021sxt.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(424-426)tCc>tAc		Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.							115	112	113					15																	101775678		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775678G>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.425C>A	15.37:g.101775678G>T	ENSP00000254190:p.Ser142Tyr						p.S142Y	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	901	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		142					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.425C>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826034	0.90955	.	.	ENSG00000131873	ENST00000254190	T	0.39229	1.09	5.21	5.21	0.72293	.	0.164709	0.41938	D	0.000784	T	0.56601	0.1996	L	0.54908	1.71	0.80722	D	1	D	0.60575	0.988	P	0.56751	0.805	T	0.59182	-0.7502	10	0.62326	D	0.03	-31.7926	18.7824	0.91939	0.0:0.0:1.0:0.0	.	142	Q86X52	CHSS1_HUMAN	Y	142	ENSP00000254190:S142Y	ENSP00000254190:S142Y	S	-	2	0	CHSY1	99593201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.731000	0.98807	2.434000	0.82447	0.655000	0.94253	TCC		0.483	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		T	101775678	G	T	101775678	3	4	153	1	0	0	0	0	1	0	0	0	3412	1174	41	5	1991	5	CHSY1	15	101775678	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	17842486	101775678	755714	136	10726											
PTX4	390667	broad.mit.edu	37	chr16	1537375	1537375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttttggggcagtcccActgagtacccgatggctgcc	5	10	14	12	1	1	1	0	1	1	0	2	2	2	1	3	4	2	3	3	4	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:1537375A>T	ENST00000447419.2	-	2	763	c.738T>A	c.(736-738)agT>agA	p.S246R	PTX4_ENST00000293922.1_Missense_Mutation_p.S241R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	246						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCAGTCCCACTGAGTACCC	0.677																																						uc010uvf.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(721-723)agT>agA		Homo sapiens pentraxin 4, long (PTX4), mRNA.							39	44	42					16																	1537375		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537375A>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.738T>A	16.37:g.1537375A>T	ENSP00000445277:p.Ser246Arg						p.S241R	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			1	723	-			246						Missense_Mutation	SNP	ENST00000447419.2	37	c.723T>A		.	.	.	.	.	.	.	.	.	.	A	1.630	-0.519174	0.04171	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05258	3.62;3.47	2.42	-3.68	0.04463	.	3.536760	0.02020	U	0.047713	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40001	-0.9586	10	0.44086	T	0.13	.	3.6322	0.08135	0.3179:0.0:0.4581:0.224	.	241	Q96A99-2	.	R	246;241	ENSP00000445277:S246R;ENSP00000293922:S241R	ENSP00000293922:S241R	S	-	3	2	PTX4	1477376	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.345000	0.02637	-0.759000	0.04684	-0.274000	0.10170	AGT		0.677	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1537375	A	T	1537375	3	4	153	1	0	0	0	0	1	0	0	0	12823	156	6	5	705	5	PTX4	16	1537375	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		1537375	88817378	137	10727											
PKD1	5310	broad.mit.edu	37	chr16	2160687	2160687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggtagctggcggggCgcccacggcccacagcagag	8	2	15	16	3	0	1	0	0	0	1	0	1	0	1	3	5	2	3	3	5	1	1	rs559596651		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:2160687C>T	ENST00000262304.4	-	15	4689	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1494H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1494	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCGGGGCGCCCACGGCC	0.652													c|||	1	0.000199681	0	0	5008	,	,		16904	0.001		0	False		,,,				2504	0					uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4480-4482)cGc>cAc		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							15	19	17					16																	2160687		2157	4268	6425	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160687C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4481G>A	16.37:g.2160687C>T	ENSP00000262304:p.Arg1494His					TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1494H	p.R1494H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			14	4690	-			1494			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4481G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	1.601	-0.526545	0.04141	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62105	0.05;0.05	5.5	-5.23	0.02798	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	1.785050	0.02334	N	0.074181	T	0.37489	0.1005	N	0.04297	-0.235	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.11329	0.005;0.006	T	0.25813	-1.0121	10	0.30854	T	0.27	.	8.7671	0.34708	0.0:0.2196:0.2771:0.5032	.	1494;1494	P98161-3;P98161	.;PKD1_HUMAN	H	1494;1494;1175	ENSP00000262304:R1494H;ENSP00000399501:R1494H	ENSP00000262304:R1494H	R	-	2	0	PKD1	2100688	0.057000	0.20700	0.007000	0.13788	0.004000	0.04260	0.207000	0.17395	-1.391000	0.02085	-0.399000	0.06403	CGC		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			T	2160687	C	T	2160687	3	4	153	1	0	0	0	0	1	0	0	0	11963	768	27	1	8558	1	PKD1	16	2160687	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	623312	2160687	88194066	138	10728											
ADCY7	113	broad.mit.edu	37	chr16	50349362	50349362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggcaaaggcgagctgagGacttactttgtctgtacgga	12	9	13	7	2	1	1	0	1	1	0	1	4	1	3	0	4	3	3	0	4	4	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:50349362G>T	ENST00000394697.2	+	26	3529	c.3189G>T	c.(3187-3189)agG>agT	p.R1063S	ADCY7_ENST00000254235.3_Missense_Mutation_p.R1063S			P51828	ADCY7_HUMAN	adenylate cyclase 7	1063					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCGAGCTGAGGACTTACTTTG	0.572																																						uc002egd.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(3187-3189)agG>agT		Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	Bromocriptine(DB01200)						105	99	101					16																	50349362		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50349362G>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.3189G>T	16.37:g.50349362G>T	ENSP00000378187:p.Arg1063Ser						p.R1063S	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	24	3457	+		all_cancers(37;0.0127)	1063					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.3189G>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424218	0.25639	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29142	1.58;1.58	4.93	1.83	0.25207	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.45126	U	0.000387	T	0.30293	0.0760	L	0.35854	1.095	0.80722	D	1	B	0.27229	0.172	B	0.43155	0.41	T	0.03060	-1.1077	10	0.08599	T	0.76	.	13.123	0.59338	0.2014:0.0:0.7986:0.0	.	1063	P51828	ADCY7_HUMAN	S	1063	ENSP00000378187:R1063S;ENSP00000254235:R1063S	ENSP00000254235:R1063S	R	+	3	2	ADCY7	48906863	1.000000	0.71417	0.985000	0.45067	0.470000	0.32858	2.382000	0.44345	0.285000	0.22329	-1.598000	0.00824	AGG		0.572	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			T	50349362	G	T	50349362	3	4	153	1	0	0	0	0	1	0	0	0	299	1165	41	5	3287	5	ADCY7	16	50349362	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	48188675	50349362	40005391	139	10729											
CES7	221223	broad.mit.edu	37	chr16	55907825	55907825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatcgcagggatcccagCgggggagcagcaaaggggac	12	3	17	9	2	0	0	0	0	0	0	2	3	1	3	1	5	3	4	1	5	3	1	rs113880150	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:55907825C>T	ENST00000290567.9	-	2	319	c.198G>A	c.(196-198)ccG>ccA	p.P66P	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Silent_p.P66P|CES5A_ENST00000319165.9_Silent_p.P66P|CES5A_ENST00000521992.1_Silent_p.P95P|CES5A_ENST00000518005.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	66						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGATCCCAGCGGGGGAGCAG	0.597													C|||	4	0.000798722	0	0	5008	,	,		19052	0.004		0	False		,,,				2504	0					uc021tir.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(283-285)ccG>ccA		Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.							76	70	72					16																	55907825		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55907825C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.198G>A	16.37:g.55907825C>T						CES5A_uc002eip.2_Silent_p.P66P|CES5A_uc002eio.2_Silent_p.P66P|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	p.P95P	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN			2	431	-			66					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.285G>A	CCDS45490.1																																																																																				0.597	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		T	55907825	C	T	55907825	2	4	153	1	0	0	0	0	0	0	0	1	3272	755	27	1		1	CES7	16	55907825	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	5558463	55907825	34446928	140	10730											
E2F4	1874	broad.mit.edu	37	chr16	67226947	67226947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaatacccgggagattgCtgacaaactgattgagctca	12	9	10	10	1	1	4	1	3	0	1	1	5	1	4	1	1	5	3	1	1	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:67226947C>G	ENST00000379378.3	+	3	340	c.281C>G	c.(280-282)gCt>gGt	p.A94G	EXOC3L1_ENST00000562887.1_5'Flank|E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000314586.6_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	94	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CGGGAGATTGCTGACAAACTG	0.612																																						uc002erz.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(280-282)gCt>gGt		Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.							34	29	31					16																	67226947		2189	4290	6479	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67226947C>G	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.281C>G	16.37:g.67226947C>G	ENSP00000368686:p.Ala94Gly					EXOC3L1_uc002erv.1_5'Flank|EXOC3L1_uc002erw.1_5'Flank|EXOC3L1_uc002erx.1_5'Flank|EXOC3L1_uc010vje.1_5'Flank|EXOC3L1_uc002ery.1_5'Flank	p.A94G	NM_001950	NP_001941	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	2	344	+		Ovarian(137;0.0563)	94			Dimerization (Potential).		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.281C>G	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028159	0.35797	.	.	ENSG00000205250	ENST00000379378	D	0.84298	-1.83	4.43	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	N	0.24115	0.695	0.58432	D	0.999997	P	0.47762	0.9	P	0.46237	0.508	T	0.71800	-0.4483	10	0.19590	T	0.45	-13.5363	11.1757	0.48598	0.0:0.9087:0.0:0.0913	.	94	Q16254	E2F4_HUMAN	G	94	ENSP00000368686:A94G	ENSP00000368686:A94G	A	+	2	0	E2F4	65784448	1.000000	0.71417	0.042000	0.18584	0.975000	0.68041	5.879000	0.69690	1.084000	0.41184	0.467000	0.42956	GCT		0.612	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		G	67226947	C	G	67226947	3	3	153	1	0	0	0	0	1	0	0	0	4869	797	28	5	291	5	E2F4	16	67226947	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	11319122	67226947	23127806	141	10731											
C17orf100	388327	broad.mit.edu	37	chr17	6555309	6555309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagagacgtccacggtcCgcgtggagacctcgtcccac	9	5	11	16	5	0	2	0	0	0	2	4	4	3	2	4	2	0	0	4	2	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:6555309C>A	ENST00000391428.2	+	1	339	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	MED31_ENST00000574128.1_5'Flank|CTC-281F24.1_ENST00000576138.1_RNA|MED31_ENST00000575197.1_5'Flank|MED31_ENST00000225728.3_5'Flank	NM_001105520.1	NP_001098990.1	A8MU93	CQ100_HUMAN	chromosome 17 open reading frame 100	26																	GTCCACGGTCCGCGTGGAGAC	0.736																																						uc010clp.1																			0											c.(76-78)Cgc>Agc		Homo sapiens chromosome 17 open reading frame 100 (C17orf100), mRNA.							5	7	7					17																	6555309		1869	4010	5879	SO:0001583	missense	388327							g.chr17:6555309C>A	BC028174, BC038956, BC052606	CCDS73952.1	17p13.2	2014-04-10			ENSG00000212734	ENSG00000256806			34494	protein-coding gene	gene with protein product							Standard	NM_001105520		Approved	LOC388327	uc010clp.1	A8MU93	OTTHUMG00000188340	ENST00000391428.2:c.76C>A	17.37:g.6555309C>A	ENSP00000375247:p.Arg26Ser					MED31_uc002gdg.4_5'Flank|MED31_uc002gdh.4_5'Flank	p.R26S	NM_001105520	NP_001098990	D3DTM5	D3DTM5_HUMAN			0	251	+			26						Missense_Mutation	SNP	ENST00000391428.2	37	c.76C>A		.	.	.	.	.	.	.	.	.	.	C	11.63	1.696143	0.30052	.	.	ENSG00000212734	ENST00000391428	.	.	.	4.27	0.807	0.18714	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.21360	0.034	T	0.19289	-1.0310	8	0.45353	T	0.12	-8.0626	4.6248	0.12472	0.3845:0.509:0.0:0.1065	.	26	A8MU93	CQ100_HUMAN	S	26	.	ENSP00000375247:R26S	R	+	1	0	C17orf100	6496033	0.423000	0.25482	0.224000	0.23877	0.029000	0.11900	0.222000	0.17699	0.509000	0.28195	-0.126000	0.14955	CGC		0.736	C17orf100-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255575.2	NM_001105520		A	6555309	C	A	6555309	3	1	153	1	0	0	0	0	1	0	0	0	1847	652	23	5	78	5	C17orf100	17	6555309	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		6555309	74639901	142	10732											
SLFN13	146857	broad.mit.edu	37	chr17	33771684	33771684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctcagttgtcaaggggCggatgtacttctccctcacc	7	12	9	13	1	4	0	3	0	1	0	6	1	5	1	3	3	1	2	3	3	2	4	rs148604980	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:33771684C>T	ENST00000285013.6	-	3	1291	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	SLFN13_ENST00000360502.2_Missense_Mutation_p.R21H|SLFN13_ENST00000533791.1_Missense_Mutation_p.R339H|SLFN13_ENST00000542635.1_Missense_Mutation_p.R339H|SLFN13_ENST00000534689.1_Missense_Mutation_p.R21H|SLFN13_ENST00000526861.1_Missense_Mutation_p.R339H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	339						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTCAAGGGGCGGATGTACTT	0.488													C|||	2	0.000399361	0	0	5008	,	,		19542	0		0	False		,,,				2504	0.002					uc002hjk.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1015-1017)cGc>cAc		Homo sapiens schlafen family member 13 (SLFN13), mRNA.		C	HIS/ARG	1,4405	826.1+/-416.6	0,1,2202	134	122	126		1016	-0.5	0	17	dbSNP_134	126	0,8600		0,0,4300	no	missense	SLFN13	NM_144682.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	339/898	33771684	1,13005	2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33771684C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1016G>A	17.37:g.33771684C>T	ENSP00000285013:p.Arg339His					SLFN13_uc010wch.1_Missense_Mutation_p.R339H|SLFN13_uc002hjl.2_Missense_Mutation_p.R339H|SLFN13_uc002hjm.2_Missense_Mutation_p.R8H|SLFN13_uc010ctt.2_Missense_Mutation_p.R21H	p.R339H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	0	1346	-			339					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1016G>A	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	6.330	0.428961	0.11987	2.27E-4	0.0	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.59502	0.26;3.92;0.26;0.26;3.92;2.24	3.53	-0.537	0.11872	.	1.067590	0.07395	N	0.889801	T	0.39963	0.1098	L	0.38175	1.15	0.09310	N	1	P;P	0.48407	0.592;0.91	B;B	0.38921	0.244;0.285	T	0.31475	-0.9942	10	0.39692	T	0.17	.	3.0178	0.06065	0.0:0.3952:0.2276:0.3772	.	21;339	Q68D06-2;Q68D06	.;SLN13_HUMAN	H	339;21;339;339;21;8	ENSP00000285013:R339H;ENSP00000353692:R21H;ENSP00000434439:R339H;ENSP00000444016:R339H;ENSP00000435442:R21H;ENSP00000435328:R8H	ENSP00000285013:R339H	R	-	2	0	SLFN13	30795797	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.055000	0.01397	0.068000	0.16574	0.508000	0.49915	CGC		0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		T	33771684	C	T	33771684	3	4	153	1	0	0	0	0	1	0	0	0	14736	768	27	1	1693	1	SLFN13	17	33771684	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	27216375	33771684	47423526	143	10733											
IKZF3	22806	broad.mit.edu	37	chr17	37985642	37985642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcacactacggctcacctCctatgtcttcatcttcattg	7	14	5	15	1	5	0	3	0	2	0	6	0	6	0	2	1	2	2	2	1	2	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:37985642C>G	ENST00000346872.3	-	3	222	c.161G>C	c.(160-162)gGa>gCa	p.G54A	IKZF3_ENST00000350532.3_Missense_Mutation_p.G54A|IKZF3_ENST00000377958.2_Missense_Mutation_p.G54A|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.G54A|IKZF3_ENST00000351680.3_Missense_Mutation_p.G54A|IKZF3_ENST00000377952.2_Missense_Mutation_p.G54A|IKZF3_ENST00000439016.2_Missense_Mutation_p.G54A|IKZF3_ENST00000467757.1_Missense_Mutation_p.G54A|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.G54A|IKZF3_ENST00000394189.2_Missense_Mutation_p.G54A|IKZF3_ENST00000377945.3_Missense_Mutation_p.G54A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	54					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCTCACCTCCTATGTCTTC	0.428																																						uc002hsu.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(160-162)gGa>gCa		Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.							176	141	153					17																	37985642		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37985642C>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.161G>C	17.37:g.37985642C>G	ENSP00000344544:p.Gly54Ala					IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.G54A|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.G54A|IKZF3_uc010cwf.3_Missense_Mutation_p.G54A|IKZF3_uc010cwg.3_Missense_Mutation_p.G54A|IKZF3_uc002hsw.3_Missense_Mutation_p.G54A|IKZF3_uc002hsx.3_Missense_Mutation_p.G54A|IKZF3_uc002hsy.3_Missense_Mutation_p.G54A|IKZF3_uc002hsz.3_Missense_Mutation_p.G54A|IKZF3_uc002hta.3_Missense_Mutation_p.G54A|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.G54A|IKZF3_uc002htc.3_5'UTR	p.G54A	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	223	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		54					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.161G>C	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	8.409	0.843699	0.16963	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.08546	3.43;3.23;3.12;3.19;3.08;3.6;3.42;3.45;3.35;4.34	5.42	4.45	0.53987	.	0.138036	0.32430	N	0.006101	T	0.11879	0.0289	N	0.12746	0.255	0.21950	N	0.999457	D;B;B;B;B;B;B;B;B;B;B	0.67145	0.996;0.44;0.44;0.44;0.44;0.007;0.234;0.002;0.001;0.007;0.004	D;B;B;B;B;B;B;B;B;B;B	0.77557	0.99;0.337;0.337;0.337;0.337;0.007;0.198;0.005;0.004;0.007;0.003	T	0.19877	-1.0292	10	0.30854	T	0.27	-15.5139	10.1325	0.42687	0.0:0.9074:0.0:0.0926	.	54;54;54;54;54;54;54;54;54;54;54	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9	.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	A	54	ENSP00000344544:G54A;ENSP00000367180:G54A;ENSP00000377741:G54A;ENSP00000367179:G54A;ENSP00000367194:G54A;ENSP00000367188:G54A;ENSP00000345622:G54A;ENSP00000341977:G54A;ENSP00000344471:G54A;ENSP00000420463:G54A	ENSP00000341977:G54A	G	-	2	0	IKZF3	35239168	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	2.522000	0.45572	1.286000	0.44565	0.563000	0.77884	GGA		0.428	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		G	37985642	C	G	37985642	3	3	153	1	0	0	0	0	1	0	0	0	7616	855	30	5	1392	5	IKZF3	17	37985642	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4213958	37985642	43209568	144	10734											
NAGS	162417	broad.mit.edu	37	chr17	42085912	42085912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactcctatgagttggtcaaCcacgccaagggactgccaga	11	7	11	12	1	1	2	1	1	0	1	2	4	2	3	4	2	2	1	4	2	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:42085912C>A	ENST00000293404.3	+	7	1666	c.1548C>A	c.(1546-1548)aaC>aaA	p.N516K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	516	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGTTGGTCAACCACGCCAAGG	0.557																																						uc010czn.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1570-1572)aaC>aaA		Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	L-Glutamic Acid(DB00142)						186	175	179					17																	42085912		2203	4300	6503	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42085912C>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1548C>A	17.37:g.42085912C>A	ENSP00000293404:p.Asn516Lys					NAGS_uc002ies.3_Missense_Mutation_p.N516K|NAGS_uc002iet.3_Missense_Mutation_p.N140K	p.N524K	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1572	+		Breast(137;0.00536)|Prostate(33;0.0724)	516			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1572C>A	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977088	0.53720	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.93659	-3.26	5.33	4.35	0.52113	GCN5-related N-acetyltransferase (GNAT) domain (1);Domain of unknown function DUF619 (1);	0.256146	0.37906	N	0.001884	D	0.91236	0.7238	N	0.22421	0.69	0.37470	D	0.91556	D;D	0.61080	0.989;0.989	P;P	0.60117	0.869;0.869	D	0.88456	0.3052	10	0.13470	T	0.59	-40.8669	10.918	0.47148	0.0:0.9062:0.0:0.0938	.	350;516	Q2NKP2;Q8N159	.;NAGS_HUMAN	K	350;516	ENSP00000293404:N516K	ENSP00000293404:N516K	N	+	3	2	NAGS	39441438	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.516000	0.35856	1.205000	0.43262	0.462000	0.41574	AAC		0.557	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		A	42085912	C	A	42085912	3	1	153	1	0	0	0	0	1	0	0	0	10145	506	18	5	1574	5	NAGS	17	42085912	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4100270	42085912	39109298	145	10735											
SEPT4	5414	broad.mit.edu	37	chr17	56603127	56603127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattgacaagtgtggatttgCccaggccagactctcctgag	9	11	11	10	0	1	3	0	2	1	1	2	4	1	4	3	2	1	0	3	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:56603127C>T	ENST00000317268.3	-	4	643	c.467G>A	c.(466-468)gGc>gAc	p.G156D	SEPT4_ENST00000579371.1_Missense_Mutation_p.G57D|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.G137D|SEPT4_ENST00000426861.1_Missense_Mutation_p.G137D|SEPT4_ENST00000412945.3_Missense_Mutation_p.G148D|SEPT4_ENST00000457347.2_Missense_Mutation_p.G171D|SEPT4_ENST00000580844.1_Missense_Mutation_p.G57D|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.G137D|SEPT4_ENST00000580809.1_Missense_Mutation_p.G38D|SEPT4_ENST00000583114.1_Missense_Mutation_p.G9D|SEPT4_ENST00000580791.1_5'Flank	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	156	Septin-type G.			G -> D (in Ref. 7; BAG37789). {ECO:0000305}.	apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGATTTGCCCAGGCCAGA	0.502																																						uc010wnx.2																			0		p.R171R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(511-513)gGc>gAc		Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.							88	77	80					17																	56603127		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56603127C>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.467G>A	17.37:g.56603127C>T	ENSP00000321674:p.Gly156Asp					SEPT4_uc002iwk.2_Missense_Mutation_p.G9D|SEPT4_uc010wnw.2_Missense_Mutation_p.G9D|SEPT4_uc002iwl.2_Missense_Mutation_p.G9D|SEPT4_uc002iwm.2_Missense_Mutation_p.G156D|SEPT4_uc002iwo.2_Missense_Mutation_p.G137D|SEPT4_uc002iwp.2_Missense_Mutation_p.G137D|SEPT4_uc010wny.2_Missense_Mutation_p.G148D|SEPT4_uc010dcy.2_Missense_Mutation_p.G38D	p.G171D	NM_080416	NP_536341	O43236	SEPT4_HUMAN			4	657	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		156					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.512G>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363568	0.41902	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	4.79	4.79	0.61399	.	0.169261	0.52532	D	0.000076	D	0.98899	0.9627	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.996;1.0;1.0;0.999;0.998;0.999	D;P;D;D;D;D;D	0.81914	0.979;0.87;0.993;0.995;0.979;0.982;0.987	D	0.99053	1.0828	10	0.87932	D	0	.	15.7066	0.77588	0.0:1.0:0.0:0.0	.	148;171;9;137;137;9;156	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	D	148;170;137;156;137;137	ENSP00000414779:G148D;ENSP00000321071:G137D;ENSP00000321674:G156D;ENSP00000376801:G137D;ENSP00000402348:G137D	ENSP00000321071:G137D	G	-	2	0	SEPT4	53958126	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.651000	0.83577	2.649000	0.89929	0.655000	0.94253	GGC		0.502	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		T	56603127	C	T	56603127	3	4	153	1	0	0	0	0	1	0	0	0	14066	739	26	3	1090	3	SEPT4	17	56603127	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	14517215	56603127	24592083	146	10736											
CD7	924	broad.mit.edu	37	chr17	80274632	80274632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccgacagctgcaggCggtgcatggtgatagtcagg	8	8	16	9	2	1	1	1	1	0	0	2	2	2	1	1	4	3	3	1	4	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80274632C>T	ENST00000312648.3	-	2	414	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CD7_ENST00000584284.1_Missense_Mutation_p.R103H|CD7_ENST00000578509.1_Missense_Mutation_p.R3H|CD7_ENST00000583376.1_Missense_Mutation_p.R3H	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	103	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGCTGCAGGCGGTGCATGGT	0.612																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(307-309)cGc>cAc		Homo sapiens CD7 molecule (CD7), mRNA.							133	123	126					17																	80274632		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274632C>T	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.308G>A	17.37:g.80274632C>T	ENSP00000312027:p.Arg103His					CD7_uc010din.3_Missense_Mutation_p.R103H|CD7_uc010wvk.1_Missense_Mutation_p.R103H	p.R103H	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		1	417	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		103			Ig-like.			Missense_Mutation	SNP	ENST00000312648.3	37	c.308G>A	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488338	0.12641	.	.	ENSG00000173762	ENST00000312648	T	0.65178	-0.14	3.8	-7.59	0.01308	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.011830	0.02368	N	0.077554	T	0.46268	0.1384	L	0.39245	1.2	0.09310	N	1	B;B;B	0.24882	0.113;0.113;0.113	B;B;B	0.15870	0.014;0.013;0.013	T	0.28681	-1.0036	10	0.30078	T	0.28	-4.5069	5.1857	0.15184	0.0963:0.4764:0.1951:0.2322	.	103;103;103	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	H	103	ENSP00000312027:R103H	ENSP00000312027:R103H	R	-	2	0	CD7	77867921	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-5.730000	0.00102	-3.662000	0.00124	-1.225000	0.01585	CGC		0.612	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		T	80274632	C	T	80274632	3	4	153	1	0	0	0	0	1	0	0	0	3032	768	27	1	426	1	CD7	17	80274632	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	23671505	80274632	920578	147	10737											
B3GNTL1	146712	broad.mit.edu	37	chr17	80915279	80915279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggtacagccggcgccCctgcttgccagcgttccaga	5	7	13	16	4	0	1	0	0	0	1	1	1	1	1	5	2	6	4	5	2	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80915279C>G	ENST00000320865.3	-	9	830	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.G162R|B3GNTL1_ENST00000571954.1_5'Flank	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	273							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGCCGGCGCCCCTGCTTGCCA	0.692																																						uc002kgg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(817-819)Ggg>Cgg		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.							22	24	23					17																	80915279		2201	4298	6499	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80915279C>G	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.817G>C	17.37:g.80915279C>G	ENSP00000319979:p.Gly273Arg					B3GNTL1_uc002kgf.1_Missense_Mutation_p.G162R|B3GNTL1_uc002kge.1_Non-coding_Transcript	p.G273R	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		8	831	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	273					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.817G>C	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839939	0.91117	.	.	ENSG00000175711	ENST00000320865	T	0.57273	0.41	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82198	-0.0576	9	.	.	.	-31.3549	14.8429	0.70237	0.0:1.0:0.0:0.0	.	273	Q67FW5	B3GNL_HUMAN	R	273	ENSP00000319979:G273R	.	G	-	1	0	B3GNTL1	78508568	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.479000	0.73600	2.163000	0.67991	0.591000	0.81541	GGG		0.692	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		G	80915279	C	G	80915279	3	3	153	1	0	0	0	0	1	0	0	0	1265	623	22	5	284	5	B3GNTL1	17	80915279	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	640647	80915279	279931	148	10738											
SMCHD1	23347	broad.mit.edu	37	chr18	2700592	2700592	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttgagaaagcagctagAgggaaaaggcctatttttga	15	10	11	5	0	0	3	0	2	0	2	0	5	0	4	1	2	3	2	1	2	6	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:2700592A>T	ENST00000320876.6	+	11	1736	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R466S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	466					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGCAGCTAGAGGGAAAAGGC	0.303																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1396-1398)agA>agT		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							142	129	133					18																	2700592		1838	4089	5927	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2700592A>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1398A>T	18.37:g.2700592A>T	ENSP00000326603:p.Arg466Ser					SMCHD1_uc002klk.4_5'Flank	p.R466S	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			10	1587	+			466					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1398A>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691474	0.68271	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25414	1.8;1.81	5.5	5.5	0.81552	.	.	.	.	.	T	0.40498	0.1119	L	0.40543	1.245	0.33566	D	0.597989	D	0.76494	0.999	D	0.78314	0.991	T	0.55055	-0.8200	9	0.87932	D	0	.	10.7984	0.46474	0.8588:0.0:0.0:0.1412	.	466	A6NHR9	SMHD1_HUMAN	S	466	ENSP00000326603:R466S;ENSP00000261598:R466S	ENSP00000261598:R466S	R	+	3	2	SMCHD1	2690592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.184000	0.42575	2.084000	0.62774	0.533000	0.62120	AGA		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2700592	A	T	2700592	3	4	153	1	0	0	0	0	1	0	0	0	14788	301	11	5	1440	5	SMCHD1	18	2700592	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		2700592	75376656	149	10739											
C18orf8	29919	broad.mit.edu	37	chr18	21089223	21089223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattgtcttcataacagatCaaggaatcgaattttaccag	16	12	6	7	1	3	1	2	0	1	1	4	3	3	2	1	1	2	0	1	1	6	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:21089223C>G	ENST00000269221.3	+	5	498	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	C18orf8_ENST00000590868.1_Intron	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	130						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAACAGATCAAGGAATCGA	0.294																																						uc021uie.1																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(388-390)Caa>Gaa		Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.							63	62	62					18																	21089223		2203	4297	6500	SO:0001583	missense	29919							g.chr18:21089223C>G	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.388C>G	18.37:g.21089223C>G	ENSP00000269221:p.Gln130Glu					C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron	p.Q130E	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			4	509	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		130					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.388C>G	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919502	0.52653	.	.	ENSG00000141452	ENST00000269221	T	0.10573	2.86	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049451	0.85682	D	0.000000	T	0.12050	0.0293	M	0.63428	1.95	0.80722	D	1	B	0.30406	0.278	B	0.22386	0.039	T	0.08576	-1.0715	10	0.02654	T	1	-19.9844	18.5469	0.91050	0.0:1.0:0.0:0.0	.	130	Q96DM3	MIC1_HUMAN	E	130	ENSP00000269221:Q130E	ENSP00000269221:Q130E	Q	+	1	0	C18orf8	19343221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.258000	0.78371	2.894000	0.99253	0.655000	0.94253	CAA		0.294	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		G	21089223	C	G	21089223	3	3	153	1	0	0	0	0	1	0	0	0	1907	827	29	5	406	5	C18orf8	18	21089223	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	18388631	21089223	56988025	150	10740											
DSG4	147409	broad.mit.edu	37	chr18	28968938	28968938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataacgctccagtcttttcGcaaagtgtatacacagccag	12	10	8	11	2	1	0	0	0	1	0	3	1	2	0	2	0	3	3	2	0	4	5	rs201177179		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:28968938G>A	ENST00000308128.4	+	5	609	c.474G>A	c.(472-474)tcG>tcA	p.S158S	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Silent_p.S158S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGTCTTTTCGCAAAGTGTAT	0.413																																						uc002kwr.2																			0		p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(472-474)tcG>tcA		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							103	98	100					18																	28968938		2203	4299	6502	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968938G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.474G>A	18.37:g.28968938G>A						DSG4_uc002kwq.2_Silent_p.S158S	p.S158S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	609	+			158		Missing (in LAH1).	Cadherin 2.		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.474G>A	CCDS11897.1																																																																																				0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		A	28968938	G	A	28968938	2	1	153	1	0	0	0	0	0	0	0	1	4779	1074	38	1		1	DSG4	18	28968938	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	7879715	28968938	49108310	151	10741											
NOL4	8715	broad.mit.edu	37	chr18	31432915	31432915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcattgatttcagttGgactcagctggggtctggag	7	12	14	8	1	4	1	3	1	1	0	4	3	4	3	0	5	1	3	0	5	0	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:31432915G>A	ENST00000261592.5	-	11	2105	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	NOL4_ENST00000538587.1_Missense_Mutation_p.P529L|NOL4_ENST00000535384.1_Missense_Mutation_p.P318L|NOL4_ENST00000535475.1_Missense_Mutation_p.P384L|NOL4_ENST00000269185.4_Missense_Mutation_p.P387L|NOL4_ENST00000589544.1_Missense_Mutation_p.P501L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	603						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GATTTCAGTTGGACTCAGCTG	0.448																																						uc010dmi.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1807-1809)cCa>cTa		Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.							110	97	101					18																	31432915		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432915G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1808C>T	18.37:g.31432915G>A	ENSP00000261592:p.Pro603Leu					NOL4_uc010xbs.2_Missense_Mutation_p.P318L|NOL4_uc002kxr.4_Missense_Mutation_p.P375L|NOL4_uc010xbt.2_Missense_Mutation_p.P529L|NOL4_uc010dmh.3_Missense_Mutation_p.P465L|NOL4_uc010xbu.2_Missense_Mutation_p.P539L|NOL4_uc002kxt.4_Missense_Mutation_p.P501L	p.P603L	NM_003787	NP_001185478	O94818	NOL4_HUMAN			10	2106	-			603					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1808C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036866	0.54896	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.79112	0.4391	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;1.0;0.993;0.986;0.992;0.995	P;D;D;P;D;D	0.91635	0.775;0.999;0.976;0.775;0.985;0.961	T	0.79135	-0.1928	9	0.87932	D	0	-11.8039	20.4082	0.99013	0.0:0.0:1.0:0.0	.	318;529;603;318;501;384	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	L	603;387;318;384;529	.	ENSP00000261592:P603L	P	-	2	0	NOL4	29686913	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.975000	0.56859	2.814000	0.96858	0.655000	0.94253	CCA		0.448	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		A	31432915	G	A	31432915	3	1	153	1	0	0	0	0	1	0	0	0	10524	1348	47	3	112	3	NOL4	18	31432915	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2463977	31432915	46644333	152	10742											
MYO5B	4645	broad.mit.edu	37	chr18	47405384	47405384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgaatattccttcacaagGttctggtaccgggatcgctc	8	13	10	10	2	2	1	1	1	1	0	5	2	3	2	2	3	1	3	2	3	4	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:47405384G>T	ENST00000285039.7	-	24	3506	c.3207C>A	c.(3205-3207)aaC>aaA	p.N1069K	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Missense_Mutation_p.N210K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1069					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCACAAGGTTCTGGTACC	0.488																																						uc002leb.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3205-3207)aaC>aaA		Homo sapiens myosin VB (MYO5B), mRNA.							103	105	104					18																	47405384		1917	4121	6038	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47405384G>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3207C>A	18.37:g.47405384G>T	ENSP00000285039:p.Asn1069Lys					MYO5B_uc002lea.2_Missense_Mutation_p.N210K	p.N1069K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	23	3495	-			1069					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3207C>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592032	0.46214	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.21734	1.99;1.99	5.28	3.48	0.39840	.	0.104396	0.64402	D	0.000006	T	0.22475	0.0542	L	0.47716	1.5	0.51767	D	0.999935	B;D	0.59357	0.057;0.985	B;P	0.52672	0.032;0.706	T	0.10847	-1.0612	10	0.07325	T	0.83	.	8.4548	0.32893	0.2384:0.0:0.7616:0.0	.	1069;210	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	K	1069;210	ENSP00000285039:N1069K;ENSP00000315531:N210K	ENSP00000285039:N1069K	N	-	3	2	MYO5B	45659382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.078000	0.30754	1.230000	0.43646	0.563000	0.77884	AAC		0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47405384	G	T	47405384	3	4	153	1	0	0	0	0	1	0	0	0	10079	1252	44	5	2407	5	MYO5B	18	47405384	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	15972469	47405384	30671864	153	10743											
CCBE1	147372	broad.mit.edu	37	chr18	57105364	57105364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccctctgggcccaggCgctcctctctccccctaaaa	7	7	9	18	1	2	1	0	0	2	1	5	2	4	1	5	3	0	1	5	3	2	1	rs144169027	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:57105364C>T	ENST00000439986.4	-	10	1003	c.966G>A	c.(964-966)gcG>gcA	p.A322A	CCBE1_ENST00000398179.2_Silent_p.A51A	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	322	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGGGCCCAGGCGCTCCTCTCT	0.507																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(964-966)gcG>gcA		Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.		T		0,4406		0,0,2203	49	45	47		966	-11.2	0.4	18	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	CCBE1	NM_133459.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		322/407	57105364	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57105364C>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.966G>A	18.37:g.57105364C>T						CCBE1_uc010dpq.3_Silent_p.A51A|CCBE1_uc002lia.3_Silent_p.A175A	p.A322A	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			9	1036	-		Colorectal(73;0.175)	322			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	c.966G>A	CCDS32838.1																																																																																				0.507	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		T	57105364	C	T	57105364	2	4	153	1	0	0	0	0	0	0	0	1	2731	755	27	1		1	CCBE1	18	57105364	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	9699980	57105364	20971884	154	10744											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60033975	60033975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatcaatgaggcttgtggCcgcctaagtggagataaggt	10	10	15	6	1	1	2	1	1	0	1	1	4	1	3	2	5	0	1	2	5	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:60033975C>T	ENST00000586569.1	+	8	803	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	255					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGGCTTGTGGCCGCCTAAGTG	0.403																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(763-765)ggC>ggT		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							188	179	182					18																	60033975		2203	4300	6503	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60033975C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.765C>T	18.37:g.60033975C>T						TNFRSF11A_uc010dpv.3_Intron	p.G255G	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			7	803	+		Colorectal(73;0.188)	255					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.765C>T	CCDS11980.1																																																																																				0.403	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			T	60033975	C	T	60033975	2	4	153	1	0	0	0	0	0	0	0	1	16281	726	26	3		3	TNFRSF11A	18	60033975	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	2928611	60033975	18043273	155	10745											
RTTN	25914	broad.mit.edu	37	chr18	67718720	67718720	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcaccagctttcctcagGagcatggccagaagattaaa	13	8	10	10	0	1	2	1	0	0	2	2	3	2	3	3	3	2	3	3	3	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:67718720G>T	ENST00000255674.6	-	39	5536	c.5250C>A	c.(5248-5250)ctC>ctA	p.L1750L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1750					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTCCTCAGGAGCATGGCCA	0.408																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5248-5250)ctC>ctA		Homo sapiens rotatin (RTTN), mRNA.							90	82	84					18																	67718720		1908	4140	6048	SO:0001819	synonymous_variant	25914						binding	g.chr18:67718720G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5250C>A	18.37:g.67718720G>T						RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	p.L1750L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			38	5318	-		Esophageal squamous(42;0.129)	1750					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5250C>A	CCDS42443.1																																																																																				0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		T	67718720	G	T	67718720	2	4	153	1	0	0	0	0	0	0	0	1	13737	1161	41	5		5	RTTN	18	67718720	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	7684745	67718720	10358528	156	10746											
SALL3	27164	broad.mit.edu	37	chr18	76757007	76757007	+	Frame_Shift_Del	DEL	C	C	-																															ctgaagttctctgaaatgttCcagaaggacctggcagctcg																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:76757007delC	ENST00000537592.2	+	3	3588	c.3588delC	c.(3586-3588)ttcfs	p.F1196fs	SALL3_ENST00000536229.3_Frame_Shift_Del_p.F991fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.F1124fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1196					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGAAATGTTCCAGAAGGACC	0.577																																						uc002lmt.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3586-3588)ttcfs		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							62	63	63					18																	76757007		2203	4300	6503	SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757007delC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3588delC	18.37:g.76757007delC	ENSP00000441823:p.Phe1196fs					SALL3_uc010dra.3_Frame_Shift_Del_p.F731fs	p.F1196fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3588	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1196					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.3588delC	CCDS12013.1																																																																																				0.577	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		-	76757007	C	-	76757007	7	5	153	1	0	1	0	1	0	0	0	0	13812	854	30	0	3598	0	SALL3	18	76757007	Frame_Shift_Del	DEL	C	TCGA-19-1790-01B-01D-1353-08	9038287	76757007	1320241	157	10747											
TCF3	6929	broad.mit.edu	37	chr19	1619469	1619469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtcttctatcttaCtctgctgcagggtgggggga	5	12	15	9	0	4	0	0	0	4	0	4	1	4	1	1	6	3	2	1	6	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:1619469C>G	ENST00000262965.5	-	15	1516	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	TCF3_ENST00000395423.3_Missense_Mutation_p.S340T|TCF3_ENST00000588136.1_Missense_Mutation_p.S391T|TCF3_ENST00000344749.5_Missense_Mutation_p.S391T|TCF3_ENST00000453954.2_Missense_Mutation_p.S307T|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTATCTTACTCTGCTGCAG	0.682			T	"PBX1, HLF, TFPT"	pre B-ALL																																	uc002ltr.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1171-1173)aGt>aCt		Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.							30	29	30					19																	1619469		2177	4238	6415	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1619469C>G	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1172G>C	19.37:g.1619469C>G	ENSP00000262965:p.Ser391Thr					TCF3_uc002lto.3_Splice_Site_p.S152_splice|TCF3_uc002ltt.4_Missense_Mutation_p.S391T|TCF3_uc002ltq.3_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	p.S391T	NM_003200	NP_003191	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1241	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	391			Leucine-zipper.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1172G>C	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753384	0.31046	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.59502	0.26;0.26;0.26	4.6	-4.83	0.03161	.	0.469266	0.25138	N	0.032860	T	0.36054	0.0953	L	0.27053	0.805	0.30434	N	0.776869	B;B;B;B	0.14438	0.005;0.002;0.009;0.01	B;B;B;B	0.15870	0.014;0.002;0.009;0.014	T	0.10337	-1.0634	10	0.62326	D	0.03	-4.0871	8.5094	0.33208	0.0:0.1789:0.1195:0.7016	.	391;391;340;328	P15923-2;P15923;Q2TB39;Q6PJU3	.;TFE2_HUMAN;.;.	T	391;391;391;340	ENSP00000262965:S391T;ENSP00000344375:S391T;ENSP00000378813:S340T	ENSP00000262965:S391T	S	-	2	0	TCF3	1570469	0.012000	0.17670	0.267000	0.24556	0.435000	0.31806	-1.108000	0.03313	-0.730000	0.04869	-0.379000	0.06801	AGT		0.682	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		G	1619469	C	G	1619469	3	3	153	1	0	0	0	0	1	0	0	0	15691	565	20	5	1043	5	TCF3	19	1619469	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		1619469	57509514	158	10748											
RFX2	5990	broad.mit.edu	37	chr19	6007158	6007158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccttgggcaggacggCgccctcggggtcttcgtcac	3	10	14	14	4	2	0	1	0	1	0	5	1	3	1	2	5	0	1	2	5	0	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:6007158C>T	ENST00000303657.5	-	12	1416	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	RFX2_ENST00000592546.1_Missense_Mutation_p.A398T|RFX2_ENST00000359161.3_Missense_Mutation_p.A423T|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGGACGGCGCCCTCGGGG	0.662																																					Colon(38;171 817 19800 47433 48051)	uc002meb.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1267-1269)Gcc>Acc		Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.							66	63	64					19																	6007158		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6007158C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1267G>A	19.37:g.6007158C>T	ENSP00000306335:p.Ala423Thr					RFX2_uc002mec.3_Missense_Mutation_p.A398T|AX748210_uc002med.1_3'UTR	p.A423T	NM_000635	NP_000626	P48378	RFX2_HUMAN			11	1536	-			423					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1267G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316627	0.23908	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.63744	-0.06	4.01	-0.787	0.10943	.	0.763188	0.12730	N	0.443974	T	0.35158	0.0922	N	0.05383	-0.06	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.17228	-1.0376	10	0.46703	T	0.11	-22.179	5.2304	0.15418	0.0:0.3693:0.1519:0.4788	.	398;423	P48378-2;P48378	.;RFX2_HUMAN	T	423;398;210	ENSP00000306335:A423T	ENSP00000306335:A423T	A	-	1	0	RFX2	5958158	0.000000	0.05858	0.052000	0.19188	0.258000	0.26162	0.056000	0.14256	-0.015000	0.14150	-0.140000	0.14226	GCC		0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		T	6007158	C	T	6007158	3	4	153	1	0	0	0	0	1	0	0	0	13263	768	27	1	932	1	RFX2	19	6007158	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4387689	6007158	53121825	159	10749											
MAN2B1	4125	broad.mit.edu	37	chr19	12757445	12757445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagacctaaccatccaCctccttccattgaactgagg	11	8	6	16	0	0	3	0	2	0	1	3	3	3	3	7	1	3	1	7	1	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:12757445C>A	ENST00000456935.2	-	24	3065	c.3025G>T	c.(3025-3027)Gtg>Ttg	p.V1009L	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.G195V|MAN2B1_ENST00000221363.4_Missense_Mutation_p.V1008L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	1009					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACCATCCACCTCCTTCCAT	0.602																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(3025-3027)Gtg>Ttg		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							145	114	125					19																	12757445		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12757445C>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.3025G>T	19.37:g.12757445C>A	ENSP00000395473:p.Val1009Leu					MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	p.V1009L	NM_000528	NP_000519	O00754	MA2B1_HUMAN			23	3101	-			1009					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.3025G>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	4.584	0.108445	0.08780	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.81330	-1.48;-1.48	5.19	-4.21	0.03812	.	3.072470	0.01190	N	0.007319	T	0.56093	0.1962	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50841	-0.8780	10	0.16420	T	0.52	0.5344	5.6095	0.17398	0.0:0.2617:0.2896:0.4486	.	1008;1009	G5E928;O00754	.;MA2B1_HUMAN	L	1009;948;1008	ENSP00000395473:V1009L;ENSP00000221363:V1008L	ENSP00000221363:V1008L	V	-	1	0	MAN2B1	12618445	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.248000	0.08854	-0.840000	0.04206	-0.345000	0.07892	GTG		0.602	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12757445	C	A	12757445	3	1	153	1	0	0	0	0	1	0	0	0	9216	507	18	5	14	5	MAN2B1	19	12757445	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	6750287	12757445	46371538	160	10750											
DCAF15	90379	broad.mit.edu	37	chr19	14065391	14065391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtcctctcctacaccaGcagcagtggggatgacgact	9	8	10	14	2	1	1	0	1	1	0	3	3	2	2	3	2	4	2	3	2	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:14065391G>A	ENST00000254337.6	+	3	305	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538517.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	95					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTACACCAGCAGCAGTGGG	0.582																																						uc002mxt.3																			0		p.T94T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(283-285)aGc>aAc		Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.							112	97	102					19																	14065391		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14065391G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.284G>A	19.37:g.14065391G>A	ENSP00000254337:p.Ser95Asn					PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	p.S95N	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			2	290	+			95					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.284G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194190	0.58017	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	U	0.000000	T	0.63733	0.2536	L	0.33485	1.01	0.52501	D	0.999954	D	0.63880	0.993	D	0.63033	0.91	T	0.60193	-0.7311	9	0.27082	T	0.32	-19.6857	16.8766	0.86053	0.0:0.0:1.0:0.0	.	95	Q66K64	DCA15_HUMAN	N	95	.	ENSP00000254337:S95N	S	+	2	0	DCAF15	13926391	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.857000	0.92250	2.264000	0.75181	0.651000	0.88453	AGC		0.582	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		A	14065391	G	A	14065391	3	1	153	1	0	0	0	0	1	0	0	0	4267	971	34	3	294	3	DCAF15	19	14065391	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	1307946	14065391	45063592	161	10751											
MAP1S	55201	broad.mit.edu	37	chr19	17844118	17844118	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatgaggagttcttcCagcgcgtgcgcgcgctctgc	4	10	16	11	5	2	1	0	1	2	0	3	3	3	3	1	3	3	2	1	3	0	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:17844118C>T	ENST00000324096.4	+	6	3056	c.2905C>T	c.(2905-2907)Cag>Tag	p.Q969*	MAP1S_ENST00000544059.2_Nonsense_Mutation_p.Q943*|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	969	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTTCTTCCAGCGCGTGCG	0.687																																						uc002nhe.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2905-2907)Cag>Tag		Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.							36	29	31					19																	17844118		2196	4296	6492	SO:0001587	stop_gained	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17844118C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2905C>T	19.37:g.17844118C>T	ENSP00000325313:p.Gln969*					MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	p.Q969*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	2914	+			969			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Nonsense_Mutation	SNP	ENST00000324096.4	37	c.2905C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230152	0.95207	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	.	.	.	4.63	1.29	0.21616	.	0.499074	0.16747	N	0.201190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3988	3.6901	0.08343	0.1712:0.5399:0.0:0.2889	.	.	.	.	X	969;943	.	ENSP00000325313:Q969X	Q	+	1	0	MAP1S	17705118	0.004000	0.15560	0.204000	0.23530	0.005000	0.04900	0.040000	0.13905	0.069000	0.16605	-0.140000	0.14226	CAG		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17844118	C	T	17844118	4	4	153	1	0	0	0	0	0	1	0	0	9234	595	21	3	2927	3	MAP1S	19	17844118	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	3778727	17844118	41284865	162	10752											
ATP13A1	57130	broad.mit.edu	37	chr19	19756301	19756301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggccaggagcgccaggCagaagtccaggagcaggacc	10	2	17	12	2	0	1	0	0	0	1	2	4	1	4	4	6	2	2	4	6	1	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:19756301C>G	ENST00000357324.6	-	26	3571	c.3545G>C	c.(3544-3546)tGc>tCc	p.C1182S	ATP13A1_ENST00000291503.5_Missense_Mutation_p.C1064S|GMIP_ENST00000445806.2_5'Flank|GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000203556.4_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1182						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GAGCGCCAGGCAGAAGTCCAG	0.647																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.4																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(3544-3546)tGc>tCc		Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.							40	41	41					19																	19756301		2202	4298	6500	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756301C>G	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3545G>C	19.37:g.19756301C>G	ENSP00000349877:p.Cys1182Ser					GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.4_Missense_Mutation_p.C550S|ATP13A1_uc002nng.3_Missense_Mutation_p.C1064S	p.C1182S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			25	3573	-			1182					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.3545G>C	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526991	0.44969	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88277	-2.36;-2.36	5.69	3.47	0.39725	.	0.232697	0.44902	D	0.000415	T	0.77909	0.4201	N	0.08118	0	0.32305	N	0.56446	B;B	0.14438	0.01;0.0	B;B	0.15870	0.014;0.003	T	0.78038	-0.2360	10	0.51188	T	0.08	-15.2596	13.198	0.59749	0.2872:0.7128:0.0:0.0	.	1182;1064	Q9HD20;Q9HD20-2	AT131_HUMAN;.	S	1064;1182	ENSP00000291503:C1064S;ENSP00000349877:C1182S	ENSP00000291503:C1064S	C	-	2	0	ATP13A1	19617301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.613000	0.46351	1.401000	0.46761	0.561000	0.74099	TGC		0.647	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		G	19756301	C	G	19756301	3	3	153	1	0	0	0	0	1	0	0	0	1123	710	25	5	73	5	ATP13A1	19	19756301	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1912183	19756301	39372682	163	10753											
GRAMD1A	57655	broad.mit.edu	37	chr19	35512755	35512755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctgtgcccgggccggCattcacacctcgggtacgtt	5	8	12	16	4	1	0	1	0	0	0	2	1	1	0	5	3	2	3	5	3	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:35512755C>A	ENST00000317991.5	+	15	1932	c.1740C>A	c.(1738-1740)ggC>ggA	p.G580G	GRAMD1A_ENST00000411896.2_Silent_p.G573G|GRAMD1A_ENST00000599564.1_Silent_p.G667G|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000504615.2_Silent_p.G346G	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	580						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCGGGCCGGCATTCACACCT	0.711																																						uc010xsf.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1753-1755)ggC>ggA		Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.							22	27	25					19																	35512755		1946	4129	6075	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35512755C>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1740C>A	19.37:g.35512755C>A						GRAMD1A_uc010xse.1_Silent_p.G580G|GRAMD1A_uc002nxk.2_Silent_p.G573G|GRAMD1A_uc002nxl.2_Silent_p.G346G|GRAMD1A_uc002nxn.1_Silent_p.G195G	p.G585G	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1755	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		580					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1755C>A	CCDS42546.1																																																																																				0.711	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		A	35512755	C	A	35512755	2	1	153	1	0	0	0	0	0	0	0	1	6747	697	25	5		5	GRAMD1A	19	35512755	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	15756454	35512755	23616228	164	10754											
ZNF565	147929	broad.mit.edu	37	chr19	36673611	36673611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacattccttacattcGtagggtttgtcacctgtatg	7	16	7	11	1	1	0	1	0	0	0	4	0	3	0	3	1	1	3	3	1	3	7			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:36673611G>A	ENST00000355114.5	-	5	2103	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	ZNF565_ENST00000392173.2_Silent_p.Y419Y|ZNF565_ENST00000304116.5_Silent_p.Y419Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CCTTACATTCGTAGGGTTTGT	0.448																																						uc002odn.3																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1255-1257)taC>taT		Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.							108	89	95					19																	36673611		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673611G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1377C>T	19.37:g.36673611G>A						ZNF565_uc010ees.3_Silent_p.Y354Y|ZNF565_uc002odo.3_Silent_p.Y419Y	p.Y419Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		4	1365	-	Esophageal squamous(110;0.162)		419					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.1257C>T																																																																																					0.448	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		A	36673611	G	A	36673611	2	1	153	1	0	0	0	0	0	0	0	1	17993	1140	40	1		1	ZNF565	19	36673611	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	1160856	36673611	22455372	165	10755											
SIRT2	22933	broad.mit.edu	37	chr19	39371782	39371782	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgggaggctctcaccAaaaaagacgatatctgaggt	12	7	12	10	3	2	2	1	1	2	1	3	4	2	3	1	3	0	2	1	3	4	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:39371782A>C	ENST00000249396.7	-	11	1006	c.705T>G	c.(703-705)ttT>ttG	p.F235L	SIRT2_ENST00000358931.5_Missense_Mutation_p.F235L|SIRT2_ENST00000392081.2_Missense_Mutation_p.F198L|RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	235	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGCTCTCACCAAAAAAGACGA	0.617																																						uc002ojt.2																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(703-705)ttT>ttG		Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.							78	70	73					19																	39371782		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39371782A>C	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.705T>G	19.37:g.39371782A>C	ENSP00000249396:p.Phe235Leu					RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Missense_Mutation_p.F198L|SIRT2_uc002ojs.2_Missense_Mutation_p.F215L|SIRT2_uc002oju.2_Missense_Mutation_p.F198L|SIRT2_uc010egh.2_Missense_Mutation_p.F198L|SIRT2_uc002ojv.2_Missense_Mutation_p.F233L	p.F235L	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		10	1046	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		235			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.705T>G	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964957	0.74131	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	4.96	-7.52	0.01341	.	0.061993	0.64402	D	0.000004	D	0.83899	0.5354	H	0.99357	4.53	0.53005	D	0.999966	D;D;D;D	0.89917	0.998;0.998;1.0;0.998	D;D;D;D	0.87578	0.955;0.955;0.998;0.994	D	0.87576	0.2481	10	0.87932	D	0	-13.4168	14.2545	0.66043	0.8326:0.0:0.1674:0.0	.	235;198;235;215	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	L	235;198;235;220;198	ENSP00000249396:F235L;ENSP00000375931:F198L;ENSP00000351809:F235L;ENSP00000404309:F198L	ENSP00000249396:F235L	F	-	3	2	SIRT2	44063622	0.313000	0.24554	0.604000	0.28916	0.515000	0.34225	-0.394000	0.07296	-0.916000	0.03818	-0.744000	0.03518	TTT		0.617	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			C	39371782	A	C	39371782	3	2	153	1	0	0	0	0	1	0	0	0	14338	127	5	5	488	5	SIRT2	19	39371782	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	2698171	39371782	19757201	166	10756											
PSG5	5673	broad.mit.edu	37	chr19	43689016	43689016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggtgtaggatcctgcGtcttcccgggtgacattctg	6	13	13	9	2	2	1	0	1	2	0	4	2	4	2	2	3	1	2	2	3	2	4	rs143404539		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:43689016G>A	ENST00000366175.3	-	2	478	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PSG5_ENST00000404580.1_Silent_p.D116D|PSG5_ENST00000599812.1_Silent_p.D116D|PSG5_ENST00000407356.1_Silent_p.D116D|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Silent_p.D116D|PSG5_ENST00000407568.1_Silent_p.D116D			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	116	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCCGGG	0.438													A|||	1	0.000199681	8e-04	0	5008	,	,		22284	0		0	False		,,,				2504	0					uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(346-348)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.		A	,	4,4402		0,4,2199	351	321	331		348,348	-0.8	0	19	dbSNP_134	331	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	PSG5	NM_001130014.1,NM_002781.3	,	0,6,6492	AA,AG,GG		0.0233,0.0908,0.0462	,	116/336,116/336	43689016	6,12990	2203	4295	6498	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43689016G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.348C>T	19.37:g.43689016G>A						PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.D116D	p.D116D	NM_002781	NP_002772	Q15238	PSG5_HUMAN			1	479	-		Prostate(69;0.00899)	116			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.348C>T	CCDS12617.1																																																																																				0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		A	43689016	G	A	43689016	2	1	153	1	0	0	0	0	0	0	0	1	12658	1136	40	1		1	PSG5	19	43689016	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	4317234	43689016	15439967	167	10757											
PRKD2	25865	broad.mit.edu	37	chr19	47197301	47197301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggtggcattggcagtgacGatctcaaagcagtgtgggtt	9	11	15	6	1	1	1	1	1	1	0	2	2	1	1	0	4	1	4	0	4	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47197301G>A	ENST00000291281.4	-	10	1632	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	PRKD2_ENST00000601806.1_Silent_p.I312I|PRKD2_ENST00000433867.1_Silent_p.I469I|PRKD2_ENST00000600194.1_Silent_p.I312I|PRKD2_ENST00000595515.1_Silent_p.I469I			Q9BZL6	KPCD2_HUMAN	protein kinase D2	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCAGTGACGATCTCAAAGC	0.647																																						uc002pfh.3																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1405-1407)atC>atT		Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.							70	56	61					19																	47197301		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197301G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1407C>T	19.37:g.47197301G>A						PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Silent_p.I312I|PRKD2_uc002pfi.3_Silent_p.I469I|PRKD2_uc002pfj.3_Silent_p.I469I|PRKD2_uc010xye.2_Silent_p.I469I|PRKD2_uc002pfk.3_Silent_p.I312I	p.I469I	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	10	1749	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	469			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1407C>T	CCDS12689.1																																																																																				0.647	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		A	47197301	G	A	47197301	2	1	153	1	0	0	0	0	0	0	0	1	12519	1048	37	2		2	PRKD2	19	47197301	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3508285	47197301	11931682	168	10758											
DHX34	9704	broad.mit.edu	37	chr19	47879753	47879753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaccccacctgcgtcttCgctggcagccccgaggtgct	4	8	11	18	3	1	0	0	0	1	0	2	1	1	0	5	2	4	4	5	2	0	1	rs571902778		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47879753C>T	ENST00000328771.4	+	12	2884	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	845					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGTCTTCGCTGGCAGCC	0.652													C|||	1	0.000199681	0	0.0014	5008	,	,		18015	0		0	False		,,,				2504	0					uc010xyn.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2533-2535)ttC>ttT		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.							21	20	20					19																	47879753		2197	4299	6496	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47879753C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2535C>T	19.37:g.47879753C>T						DHX34_uc010xyo.1_5'Flank	p.F845F	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	11	2884	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	845					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2535C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167389	0.01660	.	.	ENSG00000134815	ENST00000257252	.	.	.	5.38	-4.25	0.03766	.	.	.	.	.	T	0.67107	0.2858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72643	-0.4231	5	0.87932	D	0	-22.7127	11.7174	0.51661	0.0:0.4168:0.0:0.5832	.	.	.	.	L	550	.	ENSP00000257252:S550L	S	+	2	0	DHX34	52571551	0.003000	0.15002	0.268000	0.24571	0.022000	0.10575	-1.733000	0.01850	-0.431000	0.07307	-1.287000	0.01368	TCG		0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47879753	C	T	47879753	2	4	153	1	0	0	0	0	0	0	0	1	4507	883	31	2		2	DHX34	19	47879753	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	682452	47879753	11249230	169	10759											
ZNF649	65251	broad.mit.edu	37	chr19	52394397	52394397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgatgtatgttgagattgCccttctgaatgaagcctttt	8	17	10	6	0	1	4	0	4	1	1	1	5	1	4	2	0	2	3	2	0	3	7			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:52394397C>T	ENST00000354957.3	-	5	1276	c.992G>A	c.(991-993)gGc>gAc	p.G331D	ZNF649_ENST00000600738.1_Missense_Mutation_p.G303D|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTTGAGATTGCCCTTCTGAAT	0.453																																						uc002pxy.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(991-993)gGc>gAc		Homo sapiens zinc finger protein 649 (ZNF649), mRNA.							169	132	145					19																	52394397		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394397C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.992G>A	19.37:g.52394397C>T	ENSP00000347043:p.Gly331Asp					ZNF577_uc010ydf.1_5'Flank	p.G331D	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	4	1318	-		all_neural(266;0.0602)	331					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.992G>A	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514568	0.27123	.	.	ENSG00000198093	ENST00000354957	T	0.10099	2.91	2.52	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16214	0.0390	L	0.27975	0.815	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.13953	-1.0490	9	0.72032	D	0.01	.	4.3748	0.11265	0.0:0.4144:0.4203:0.1653	.	331	Q9BS31	ZN649_HUMAN	D	331	ENSP00000347043:G331D	ENSP00000347043:G331D	G	-	2	0	ZNF649	57086209	0.000000	0.05858	0.996000	0.52242	0.247000	0.25773	-0.443000	0.06862	1.246000	0.43901	0.404000	0.27445	GGC		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		T	52394397	C	T	52394397	3	4	153	1	0	0	0	0	1	0	0	0	18061	739	26	3	529	3	ZNF649	19	52394397	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4514644	52394397	6734586	170	10760											
ZNF347	84671	broad.mit.edu	37	chr19	53645153	53645153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttttcgccagtatggaTcacctgatgggtagttaggt	8	14	12	7	2	1	1	1	1	0	0	2	2	1	2	2	3	0	4	2	3	3	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:53645153T>A	ENST00000334197.7	-	5	996	c.928A>T	c.(928-930)Atc>Ttc	p.I310F	ZNF347_ENST00000452676.2_Missense_Mutation_p.I311F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.I311F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGGATCACCTGATGG	0.388																																					Melanoma(64;205 1597 17324 45721)	uc002qbc.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(931-933)Atc>Ttc		Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.							163	155	158					19																	53645153		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645153T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.928A>T	19.37:g.53645153T>A	ENSP00000334146:p.Ile310Phe					ZNF347_uc002qbb.2_Missense_Mutation_p.I310F|ZNF347_uc010eql.2_Missense_Mutation_p.I311F	p.I311F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	4	1358	-			310					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.931A>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406926	0.42715	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.18338	2.22;2.22	2.58	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26882	0.0658	L	0.41492	1.28	0.09310	N	1	D;P	0.89917	1.0;0.615	D;B	0.71414	0.973;0.331	T	0.08411	-1.0723	9	0.72032	D	0.01	.	5.7109	0.17935	0.0:0.1456:0.0:0.8544	.	311;310	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	310;311	ENSP00000334146:I310F;ENSP00000405218:I311F	ENSP00000334146:I310F	I	-	1	0	ZNF347	58336965	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.004000	0.13106	0.258000	0.21686	-0.326000	0.08463	ATC		0.388	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		A	53645153	T	A	53645153	3	1	153	1	0	0	0	0	1	0	0	0	17858	1435	50	5	1595	5	ZNF347	19	53645153	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1250756	53645153	5483830	171	10761											
NLRP7	199713	broad.mit.edu	37	chr19	55447703	55447703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatcgtgcgttcccactcGatgtgccctgccagggtcag	6	10	11	14	3	2	0	2	0	0	0	5	1	3	0	3	1	3	1	3	1	0	1	rs571211521	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:55447703G>A	ENST00000590030.1	-	5	2266	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_ENST00000446217.1_Silent_p.I770I|NLRP7_ENST00000588756.1_Silent_p.I742I|NLRP7_ENST00000328092.5_Silent_p.I714I|NLRP7_ENST00000592784.1_Silent_p.I742I|NLRP7_ENST00000340844.2_Silent_p.I742I|NLRP7_ENST00000448121.2_Silent_p.I714I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	742							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552													.|||	3	0.000599042	0	0	5008	,	,		18339	0		0	False		,,,				2504	0.0031					uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2224-2226)atC>atT		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							117	88	98					19																	55447703		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55447703G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2226C>T	19.37:g.55447703G>A						NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	p.I742I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2302	-			742					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2226C>T	CCDS33109.1																																																																																				0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55447703	G	A	55447703	2	1	153	1	0	0	0	0	0	0	0	1	10482	1048	37	2		2	NLRP7	19	55447703	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	1802550	55447703	3681280	172	10762											
ZNF329	79673	broad.mit.edu	37	chr19	58640193	58640193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtataaggcttctctccGgtgtgagttcggtgatgcaa	9	12	12	8	2	1	2	0	2	1	0	4	2	2	2	1	3	1	4	1	3	4	4	rs116840582	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:58640193G>A	ENST00000598312.1	-	4	911	c.678C>T	c.(676-678)acC>acT	p.T226T	ZNF329_ENST00000358067.4_Silent_p.T226T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCTTCTCTCCGGTGTGAGTTC	0.433													G|||	14	0.00279553	0.0091	0	5008	,	,		20104	0.002		0	False		,,,				2504	0					uc002qrn.3																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(676-678)acC>acT		Homo sapiens zinc finger protein 329 (ZNF329), mRNA.		G		29,4377	35.2+/-66.4	0,29,2174	145	137	140		678	2.2	1	19	dbSNP_132	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF329	NM_024620.3		0,30,6473	AA,AG,GG		0.0116,0.6582,0.2307		226/542	58640193	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640193G>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.678C>T	19.37:g.58640193G>A						ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.T226T	p.T226T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	3	915	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	226					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.678C>T	CCDS12972.1																																																																																				0.433	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		A	58640193	G	A	58640193	2	1	153	1	0	0	0	0	0	0	0	1	17844	1103	39	2		2	ZNF329	19	58640193	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3192490	58640193	488790	173	10763											
RBCK1	10616	broad.mit.edu	37	chr20	409649	409649	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgccagatcgtggtaCagaagaaggacggctgcgac	11	5	14	11	3	0	3	0	0	0	3	1	5	0	4	2	3	3	2	2	3	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:409649C>T	ENST00000356286.5	+	11	2068	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	RBCK1_ENST00000382181.2_Nonsense_Mutation_p.Q285*|RBCK1_ENST00000353660.3_Nonsense_Mutation_p.Q413*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	455					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GATCGTGGTACAGAAGAAGGA	0.682																																						uc002wdp.4																			0				kidney(1)|lung(4)	5						c.(1363-1365)Cag>Tag		Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.							33	33	33					20																	409649		2203	4300	6503	SO:0001587	stop_gained	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:409649C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1363C>T	20.37:g.409649C>T	ENSP00000348632:p.Gln455*					RBCK1_uc002wdq.4_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q285*	p.Q455*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			10	2056	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	455					O95623|Q86SL2|Q96BS3|Q9BYM9	Nonsense_Mutation	SNP	ENST00000356286.5	37	c.1363C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	43	10.506387	0.99418	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.7614	15.8931	0.79315	0.0:1.0:0.0:0.0	.	.	.	.	X	455;413;285	.	ENSP00000254960:Q413X	Q	+	1	0	RBCK1	357649	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.306000	0.78905	2.619000	0.88677	0.650000	0.86243	CAG		0.682	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		T	409649	C	T	409649	4	4	153	1	0	0	0	0	0	1	0	0	13107	479	17	3	1424	3	RBCK1	20	409649	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		409649	62615871	174	10764											
RBPJL	11317	broad.mit.edu	37	chr20	43936878	43936878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgacaggcggagcctcccgGgcacttggaccaggtaacgg	8	4	15	14	4	0	0	0	0	0	0	1	3	1	2	4	6	2	2	4	6	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:43936878G>T	ENST00000343694.3	+	2	190	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	MATN4_ENST00000372751.4_5'UTR|MATN4_ENST00000372756.1_5'Flank|RBPJL_ENST00000372743.1_Missense_Mutation_p.G40C|RBPJL_ENST00000372741.3_Missense_Mutation_p.G40C|MATN4_ENST00000342716.4_5'UTR|MATN4_ENST00000537548.1_5'UTR|MATN4_ENST00000372754.1_5'Flank|MATN4_ENST00000360607.6_5'UTR|MATN4_ENST00000353917.5_5'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	40					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAGCCTCCCGGGCACTTGGAC	0.642																																						uc002xns.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(118-120)Ggc>Tgc		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.							41	45	43					20																	43936878		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43936878G>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.118G>T	20.37:g.43936878G>T	ENSP00000341243:p.Gly40Cys					MATN4_uc002xnp.2_5'UTR|MATN4_uc002xnn.2_5'UTR|MATN4_uc002xno.2_5'UTR|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_5'UTR|RBPJL_uc002xnt.3_Missense_Mutation_p.G40C	p.G40C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			1	190	+		Myeloproliferative disorder(115;0.0122)	40					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.118G>T	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190345	0.58017	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.59083	1.11;0.29;1.11	4.19	3.16	0.36331	.	0.702414	0.12679	N	0.448127	T	0.43500	0.1250	N	0.14661	0.345	0.09310	N	1	D;D	0.58620	0.983;0.97	P;B	0.46975	0.533;0.436	T	0.25117	-1.0141	10	0.62326	D	0.03	-15.5085	8.6602	0.34088	0.0:0.0:0.7723:0.2277	.	40;40	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	C	40	ENSP00000361828:G40C;ENSP00000361826:G40C;ENSP00000341243:G40C	ENSP00000341243:G40C	G	+	1	0	RBPJL	43370292	0.913000	0.31002	0.639000	0.29394	0.881000	0.50899	2.475000	0.45162	2.332000	0.79248	0.462000	0.41574	GGC		0.642	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		T	43936878	G	T	43936878	3	4	153	1	0	0	0	0	1	0	0	0	13162	1232	43	5	124	5	RBPJL	20	43936878	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	43527229	43936878	19088642	175	10765											
GGTLC2	91227	broad.mit.edu	37	chr22	22989259	22989259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccccggtcagcgagaTcctgttcaatgatgaaatgg	9	9	11	12	3	2	3	2	2	0	1	4	4	4	3	4	2	1	2	4	2	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:22989259T>A	ENST00000480559.1	+	2	212	c.212T>A	c.(211-213)aTc>aAc	p.I71N	GGTLC2_ENST00000448514.1_Missense_Mutation_p.I71N|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	71					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GTCAGCGAGATCCTGTTCAAT	0.592																																						uc010gts.2																			0		p.E70G(1)|p.E70*(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(211-213)aTc>aAc		Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.							78	82	81					22																	22989259		2203	4298	6501	SO:0001583	missense	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989259T>A	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.212T>A	22.37:g.22989259T>A	ENSP00000419751:p.Ile71Asn					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.I71N	p.I71N	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	246	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	71					A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	c.212T>A	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	t	13.39	2.223119	0.39300	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.11169	2.8;2.8	.	.	.	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	H	0.98178	4.165	0.39883	D	0.97366	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.25152	-1.0140	9	0.87932	D	0	-27.8664	4.4758	0.11739	0.0:8.0E-4:0.0:0.9992	.	71;71	Q14390;B7WND7	GGTL2_HUMAN;.	N	71	ENSP00000419751:I71N;ENSP00000415676:I71N	ENSP00000415676:I71N	I	+	2	0	GGTLC2	21319259	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.272000	0.51616	0.000000	0.14550	0.000000	0.15137	ATC		0.592	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		A	22989259	T	A	22989259	3	1	153	1	0	0	0	0	1	0	0	0	6366	1435	50	5	218	5	GGTLC2	22	22989259	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08		22989259	28315307	176	10766											
PLA2G6	8398	broad.mit.edu	37	chr22	38541510	38541510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagccaggtgggccactgaCcagctggggtggttacggat	8	7	16	10	1	0	1	0	1	0	0	0	2	0	2	3	6	3	2	3	6	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:38541510C>G	ENST00000332509.3	-	3	543	c.360G>C	c.(358-360)tgG>tgC	p.W120C	PLA2G6_ENST00000402064.1_Missense_Mutation_p.W120C|PLA2G6_ENST00000447598.2_3'UTR|PLA2G6_ENST00000335539.3_Missense_Mutation_p.W120C|PLA2G6_ENST00000436218.1_Missense_Mutation_p.W120C	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	120					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCCACTGACCAGCTGGGGT	0.577																																						uc003auy.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(358-360)tgG>tgC		Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	Quinacrine(DB01103)						67	48	54					22																	38541510		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38541510C>G	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.360G>C	22.37:g.38541510C>G	ENSP00000333142:p.Trp120Cys					PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	p.W120C	NM_003560	NP_003551	O60733	PA2G6_HUMAN			2	496	-	Melanoma(58;0.045)		120					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.360G>C	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308846	0.81247	.	.	ENSG00000184381	ENST00000332509;ENST00000335539;ENST00000402064;ENST00000396860;ENST00000451461	T;T;T	0.65364	-0.15;-0.11;-0.11	5.3	5.3	0.74995	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	L	0.49778	1.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.76321	-0.3002	10	0.62326	D	0.03	-18.5657	16.1222	0.81365	0.0:1.0:0.0:0.0	.	120;120;120	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	C	120	ENSP00000333142:W120C;ENSP00000335149:W120C;ENSP00000386100:W120C	ENSP00000333142:W120C	W	-	3	0	PLA2G6	36871456	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.437000	0.73421	2.472000	0.83506	0.655000	0.94253	TGG		0.577	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		G	38541510	C	G	38541510	3	3	153	1	0	0	0	0	1	0	0	0	12008	508	18	5	2120	5	PLA2G6	22	38541510	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	15552251	38541510	12763056	177	10767											
RANGAP1	5905	broad.mit.edu	37	chr22	41652054	41652054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaccttggccatgttGaagccctccagcacctcctg	7	8	9	17	0	0	1	0	1	0	0	2	1	2	1	7	1	3	3	7	1	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:41652054G>T	ENST00000455915.2	-	9	2513	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	RANGAP1_ENST00000407260.4_Missense_Mutation_p.F293L|RANGAP1_ENST00000405486.1_Missense_Mutation_p.F348L|RANGAP1_ENST00000356244.3_Missense_Mutation_p.F348L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	348					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCATGTTGAAGCCCTCCA	0.597																																						uc003azs.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1042-1044)ttC>ttA		Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.							56	45	49					22																	41652054		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41652054G>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1044C>A	22.37:g.41652054G>T	ENSP00000401470:p.Phe348Leu					RANGAP1_uc003azt.3_Missense_Mutation_p.F348L|RANGAP1_uc003azu.3_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.2_Missense_Mutation_p.F293L	p.F348L	NM_002883	NP_002874	P46060	RAGP1_HUMAN			8	2514	-			348					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1044C>A	CCDS14012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.10|14.10	2.434554|2.434554	0.43224|0.43224	.|.	.|.	ENSG00000100401|ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260|ENST00000446258	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.9|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.197947|.	0.53938|.	D|.	0.000054|.	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.39397|0.39397	1.21|1.21	0.41054|0.41054	D|D	0.985322|0.985322	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.17433|.	0.018;0.002|.	T|T	0.52162|0.52162	-0.8612|-0.8612	10|5	0.09843|.	T|.	0.71|.	-14.0954|-14.0954	9.5553|9.5553	0.39334|0.39334	0.1546:0.0:0.8454:0.0|0.1546:0.0:0.8454:0.0	.|.	293;348|.	F8W7I9;P46060|.	.;RAGP1_HUMAN|.	L|K	348;348;348;348;293|244	ENSP00000385866:F348L;ENSP00000348577:F348L;ENSP00000401470:F348L;ENSP00000385354:F293L|.	ENSP00000348577:F348L|.	F|Q	-|-	3|1	2|0	RANGAP1|RANGAP1	39982000|39982000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.900000|3.900000	0.56295|0.56295	2.467000|2.467000	0.83353|0.83353	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.597	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		T	41652054	G	T	41652054	3	4	153	1	0	0	0	0	1	0	0	0	13033	1281	45	5	747	5	RANGAP1	22	41652054	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3110544	41652054	9652512	178	10768											
SBF1	6305	broad.mit.edu	37	chr22	50904674	50904674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctgagccggcaggatggGcacataggtgaagctgtgca	10	6	16	9	1	0	2	0	2	0	0	0	3	0	3	1	4	4	5	1	4	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:50904674G>A	ENST00000390679.3	-	8	986	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	SBF1_ENST00000348911.6_Missense_Mutation_p.P269S|SBF1_ENST00000380817.3_Missense_Mutation_p.P268S			O95248	MTMR5_HUMAN	SET binding factor 1	268	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGATGGGCACATAGGTG	0.672																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(802-804)Ccc>Tcc		Homo sapiens SET binding factor 1 (SBF1), mRNA.							30	37	34					22																	50904674		2113	4229	6342	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904674G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.802C>T	22.37:g.50904674G>A	ENSP00000375097:p.Pro268Ser					SBF1_uc011arx.2_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.P269S	p.P268S	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	7	997	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	268			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.802C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.209942	0.79240	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.27557	1.66;1.66;1.66	4.44	3.39	0.38822	.	0.063978	0.64402	D	0.000005	T	0.68485	0.3006	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80464	-0.1371	10	0.72032	D	0.01	.	13.8658	0.63588	0.0:0.1544:0.8456:0.0	.	269;268	G5E933;O95248-4	.;.	S	268;269;279;278;268	ENSP00000370196:P268S;ENSP00000252027:P269S;ENSP00000375097:P268S	ENSP00000336522:P278S	P	-	1	0	SBF1	49251540	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	4.348000	0.59379	1.062000	0.40625	0.462000	0.41574	CCC		0.672	SBF1-201	KNOWN	basic	protein_coding	protein_coding				A	50904674	G	A	50904674	3	1	153	1	0	0	0	0	1	0	0	0	13858	1203	42	3	5015	3	SBF1	22	50904674	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	9252620	50904674	399892	179	10769											
NLGN4X	57502	broad.mit.edu	37	chrX	5811228	5811228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttttgtagtacagcgccGcaaaagctaagatgttgagg	11	11	11	8	2	0	2	0	1	0	1	0	2	0	2	2	1	3	5	2	1	5	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:5811228G>A	ENST00000381095.3	-	6	2708	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V	NLGN4X_ENST00000275857.6_Missense_Mutation_p.A694V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.A694V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.A694V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.A714V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	694					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.A694V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTACAGCGCCGCAAAAGCTAA	0.502																																						uc010ndi.3																			1	Substitution - Missense(1)	p.A694V(1)|p.M730V(1)	stomach(1)	breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2191-2193)gCg>gTg		Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.							121	107	111					X																	5811228		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811228G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2081C>T	X.37:g.5811228G>A	ENSP00000370485:p.Ala694Val					NLGN4X_uc004crp.3_Missense_Mutation_p.A714V|NLGN4X_uc010ndh.3_Missense_Mutation_p.A694V|NLGN4X_uc004crq.3_Missense_Mutation_p.A694V|NLGN4X_uc004crr.3_Missense_Mutation_p.A694V|NLGN4X_uc010ndj.3_Missense_Mutation_p.A694V	p.A731V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2656	-			694					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2192C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669458	0.47677	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	3.81	3.81	0.43845	.	0.000000	0.34652	N	0.003796	D	0.89757	0.6807	M	0.71206	2.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91076	0.4896	10	0.87932	D	0	.	14.2039	0.65721	0.0:0.0:1.0:0.0	.	751;694;714	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	694;714;694;694;694	ENSP00000370485:A694V;ENSP00000370483:A714V;ENSP00000275857:A694V;ENSP00000370482:A694V;ENSP00000439203:A694V	ENSP00000275857:A694V	A	-	2	0	NLGN4X	5821228	1.000000	0.71417	0.007000	0.13788	0.003000	0.03518	8.442000	0.90317	1.503000	0.48686	0.506000	0.49869	GCG		0.502	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		A	5811228	G	A	5811228	3	1	153	1	0	0	0	0	1	0	0	0	10464	1087	38	1	373	1	NLGN4X	23	5811228	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		5811228	149459332	180	10770											
VCX3B	425054	broad.mit.edu	37	chrX	8433516	8433516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccaaagccgagagcctcgGgacctccggccaaggccaag	10	3	13	15	3	0	1	0	0	0	1	3	3	2	2	7	3	2	0	7	3	3	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:8433516G>T	ENST00000381032.1	+	2	332	c.25G>T	c.(25-27)Gga>Tga	p.G9*	VCX3B_ENST00000440654.2_Nonsense_Mutation_p.G9*|VCX3B_ENST00000453306.1_Nonsense_Mutation_p.G9*|VCX3B_ENST00000444481.1_Nonsense_Mutation_p.G9*|VCX3B_ENST00000381029.4_Nonsense_Mutation_p.G9*	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	9						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGAGCCTCGGGACCTCCGGC	0.607																																						uc011mht.2																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(25-27)Gga>Tga		Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.							71	44	54					X																	8433516		1375	2318	3693	SO:0001587	stop_gained	425054					nucleolus		g.chrX:8433516G>T		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.25G>T	X.37:g.8433516G>T	ENSP00000370420:p.Gly9*					VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*|VCX3B_uc022bsj.1_5'Flank	p.G9*	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN			1	332	+			9					C9JS46|Q4KN12	Nonsense_Mutation	SNP	ENST00000381032.1	37	c.25G>T	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457140	0.63401	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	.	.	.	0.421	-0.563	0.11778	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999931	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	.	.	.	.	.	.	.	X	9	.	ENSP00000370417:G9X	G	+	1	0	VCX3B	8393516	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.121000	0.10643	-0.438000	0.07232	-0.435000	0.05868	GGA		0.607	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			T	8433516	G	T	8433516	4	4	153	1	0	0	0	0	0	1	0	0	17142	1233	43	5	27	5	VCX3B	23	8433516	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2622288	8433516	146837044	181	10771											
DMD	1756	broad.mit.edu	37	chrX	32503062	32503062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctctttctctctggccTgcacatcagaaaagacttgc	9	12	8	12	0	4	2	1	0	3	2	5	2	4	2	1	1	3	3	1	1	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:32503062T>C	ENST00000357033.4	-	21	2983	c.2777A>G	c.(2776-2778)cAg>cGg	p.Q926R	DMD_ENST00000378677.2_Missense_Mutation_p.Q922R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	926					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTCTGGCCTGCACATCAGA	0.408																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2776-2778)cAg>cGg		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							121	104	110					X																	32503062		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32503062T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2777A>G	X.37:g.32503062T>C	ENSP00000354923:p.Gln926Arg					DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	p.Q926R	NM_004006	NP_004001	P11532	DMD_HUMAN			20	3021	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	926					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2777A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	6.948	0.544656	0.13312	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50548	0.74;0.74	5.14	1.51	0.23008	.	0.447919	0.15990	N	0.234878	T	0.22437	0.0541	N	0.04203	-0.255	0.36600	D	0.874613	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.07966	-1.0745	10	0.32370	T	0.25	.	7.7876	0.29101	0.0:0.2559:0.0:0.7441	.	918;926;922	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	R	918;922;926;926;803	ENSP00000367948:Q922R;ENSP00000354923:Q926R	ENSP00000354923:Q926R	Q	-	2	0	DMD	32412983	0.943000	0.32029	0.975000	0.42487	0.515000	0.34225	2.468000	0.45102	0.171000	0.19730	0.437000	0.28790	CAG		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32503062	T	C	32503062	3	2	153	1	0	0	0	0	1	0	0	0	4580	1580	55	4	8759	4	DMD	23	32503062	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	24069546	32503062	122767498	182	10772											
CXorf22	170063	broad.mit.edu	37	chrX	36007487	36007487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagtaacttggcagcaggGcttcagttctccagaagaag	12	9	12	8	0	2	3	1	1	1	2	3	3	2	3	1	2	2	5	1	2	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:36007487G>A	ENST00000297866.5	+	16	2831	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	922										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGCAGCAGGGCTTCAGTTCT	0.368																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2764-2766)gGc>gAc		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							86	72	77					X																	36007487		2202	4300	6502	SO:0001583	missense	170063							g.chrX:36007487G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2765G>A	X.37:g.36007487G>A	ENSP00000297866:p.Gly922Asp					CXorf22_uc010ngv.3_Non-coding_Transcript	p.G922D	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			15	2831	+			922					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2765G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647930	0.29336	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.62	2.69	0.31865	.	0.434279	0.27151	N	0.020690	T	0.16599	0.0399	M	0.72118	2.19	0.09310	N	1	D	0.54772	0.968	P	0.47470	0.548	T	0.12116	-1.0560	10	0.09590	T	0.72	-3.5941	8.0165	0.30385	0.0876:0.2962:0.6162:0.0	.	922	Q6ZTR5	CX022_HUMAN	D	922	ENSP00000297866:G922D	ENSP00000297866:G922D	G	+	2	0	CXorf22	35917408	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	1.504000	0.35726	0.521000	0.28445	0.594000	0.82650	GGC		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	36007487	G	A	36007487	3	1	153	1	0	0	0	0	1	0	0	0	4102	1203	42	3	2827	3	CXorf22	23	36007487	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3504425	36007487	119263073	183	10773											
ZC4H2	55906	broad.mit.edu	37	chrX	64140054	64140054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatgttctttcagtggcTtatactcatcatgcagcctc	8	14	6	13	0	4	0	3	0	1	0	5	0	4	0	2	1	3	3	2	1	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:64140054T>C	ENST00000374839.3	-	3	411	c.305A>G	c.(304-306)aAg>aGg	p.K102R	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.K102R|ZC4H2_ENST00000337990.2_Missense_Mutation_p.K79R|ZC4H2_ENST00000545618.1_Missense_Mutation_p.K97R	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	102					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTTCAGTGGCTTATACTCATC	0.473																																						uc004dvu.3																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(304-306)aAg>aGg		Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.							192	155	168					X																	64140054		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64140054T>C	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.305A>G	X.37:g.64140054T>C	ENSP00000363972:p.Lys102Arg					ZC4H2_uc004dvv.3_Missense_Mutation_p.K79R|ZC4H2_uc022byd.1_Missense_Mutation_p.K79R|ZC4H2_uc022byc.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.2_Missense_Mutation_p.K102R|ZC4H2_uc011mov.2_Missense_Mutation_p.K79R|ZC4H2_uc004dvw.2_Missense_Mutation_p.K102R	p.K102R	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN			2	461	-			102					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.305A>G	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389409	0.25118	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.15	5.15	0.70609	.	0.045861	0.85682	D	0.000000	T	0.36552	0.0971	N	0.19112	0.55	0.52501	D	0.999957	B;B	0.33413	0.206;0.411	B;B	0.37015	0.054;0.239	T	0.16158	-1.0412	9	0.08837	T	0.75	.	12.1271	0.53922	0.0:0.0:0.0:1.0	.	102;102	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	R	102;97;102;79	.	ENSP00000338650:K79R	K	-	2	0	ZC4H2	64056779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.828000	0.69307	1.838000	0.53458	0.430000	0.28490	AAG		0.473	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		C	64140054	T	C	64140054	3	2	153	1	0	0	0	0	1	0	0	0	17575	1609	56	4	400	4	ZC4H2	23	64140054	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	28132567	64140054	91130506	184	10774											
EDA	1896	broad.mit.edu	37	chrX	69250324	69250324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatcctgccagccagcTgtggtgcatctacagggcca	7	10	10	14	0	2	0	1	0	2	0	4	0	3	0	4	2	5	2	4	2	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:69250324T>C	ENST00000374552.4	+	6	989	c.747T>C	c.(745-747)gcT>gcC	p.A249A	EDA_ENST00000374553.2_Silent_p.A249A|EDA_ENST00000524573.1_Silent_p.A249A	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	249					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCCAGCCAGCTGTGGTGCATC	0.502											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(745-747)gcT>gcC		Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.							100	69	79					X																	69250324		2203	4300	6503	SO:0001819	synonymous_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69250324T>C	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.747T>C	X.37:g.69250324T>C			OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc011mpj.2_Silent_p.A249A|EDA_uc004dxr.3_Silent_p.A249A	p.A249A	NM_001399	NP_001390	Q92838	EDA_HUMAN			5	989	+			249					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	c.747T>C	CCDS14394.1																																																																																				0.502	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		C	69250324	T	C	69250324	2	2	153	1	0	0	0	0	0	0	0	1	4903	1567	55	4		4	EDA	23	69250324	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	5110270	69250324	86020236	185	10775											
CDX4	1046	broad.mit.edu	37	chrX	72674301	72674301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaatagtggaggctcGgtgcaaagtgactctgactc	10	11	13	7	1	1	3	0	3	1	1	3	5	1	4	0	3	1	2	0	3	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:72674301G>A	ENST00000373514.2	+	3	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	245					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GTGGAGGCTCGGTGCAAAGTG	0.448																																						uc011mqk.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(733-735)tcG>tcA		Homo sapiens caudal type homeobox 4 (CDX4), mRNA.							114	94	100					X																	72674301		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72674301G>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.735G>A	X.37:g.72674301G>A							p.S245S	NM_005193	NP_005184	O14627	CDX4_HUMAN			2	735	+	Renal(35;0.156)		245					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.735G>A	CCDS14424.1																																																																																				0.448	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		A	72674301	G	A	72674301	2	1	153	1	0	0	0	0	0	0	0	1	3184	1103	39	2		2	CDX4	23	72674301	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3423977	72674301	82596259	186	10776											
RLIM	51132	broad.mit.edu	37	chrX	73811531	73811531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggttggtcatcatcaTcctcatttaagaggaaaaac	13	12	7	9	0	5	1	4	0	1	1	6	2	6	2	1	3	1	1	1	3	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:73811531T>C	ENST00000332687.6	-	4	1837	c.1619A>G	c.(1618-1620)gAt>gGt	p.D540G	RLIM_ENST00000349225.2_Missense_Mutation_p.D540G	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	540					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCATCATCATCCTCATTTAA	0.458																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1618-1620)gAt>gGt		Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.							54	43	47					X																	73811531		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811531T>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1619A>G	X.37:g.73811531T>C	ENSP00000328059:p.Asp540Gly					RLIM_uc004ebw.3_Missense_Mutation_p.D540G	p.D540G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			4	1909	-			540					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1619A>G	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522300	0.44866	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.10099	2.91;2.91	5.41	5.41	0.78517	.	0.144262	0.64402	D	0.000010	T	0.11067	0.0270	L	0.27053	0.805	0.80722	D	1	B	0.29988	0.264	B	0.36885	0.235	T	0.24190	-1.0167	10	0.30854	T	0.27	-0.2358	14.5727	0.68224	0.0:0.0:0.0:1.0	.	540	Q9NVW2	RNF12_HUMAN	G	540	ENSP00000328059:D540G;ENSP00000253571:D540G	ENSP00000328059:D540G	D	-	2	0	RLIM	73728256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.821000	0.53095	0.486000	0.48141	GAT		0.458	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		C	73811531	T	C	73811531	3	2	153	1	0	0	0	0	1	0	0	0	13390	1435	50	4	259	4	RLIM	23	73811531	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1137230	73811531	81459029	187	10777											
CYLC1	1538	broad.mit.edu	37	chrX	83128534	83128534	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattactcacagaataattCaaagaattattctttgaagt	17	14	5	5	0	3	3	2	1	1	2	3	4	3	3	0	0	1	0	0	0	8	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83128534C>G	ENST00000329312.4	+	4	855	c.818C>G	c.(817-819)tCa>tGa	p.S273*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	273					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGAATAATTCAAAGAATTAT	0.318																																						uc004eei.1																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(817-819)tCa>tGa		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.							28	28	28					X																	83128534		2191	4278	6469	SO:0001587	stop_gained	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128534C>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.818C>G	X.37:g.83128534C>G	ENSP00000331556:p.Ser273*					CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	p.S273*	NM_021118	NP_066941	P35663	CYLC1_HUMAN			3	839	+			273					A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	c.818C>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.323681	0.81580	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.75	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.4071	6.723	0.23340	0.0:0.7796:0.0:0.2204	.	.	.	.	X	273	.	ENSP00000331556:S273X	S	+	2	0	CYLC1	83015190	0.096000	0.21769	0.991000	0.47740	0.592000	0.36648	-0.087000	0.11215	0.535000	0.28714	0.600000	0.82982	TCA		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		G	83128534	C	G	83128534	4	3	153	1	0	0	0	0	0	1	0	0	4141	838	29	5	832	5	CYLC1	23	83128534	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	9317003	83128534	72142026	188	10778											
RPS6KA6	27330	broad.mit.edu	37	chrX	83361995	83361995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagaagttgcaacaaagcTgaatcctttgaagagctgat	16	10	9	6	0	0	5	0	3	0	2	1	5	1	5	1	0	4	4	1	0	7	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83361995T>C	ENST00000262752.2	-	14	1172	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S389G|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	389	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAACAAAGCTGAATCCTTTG	0.343																																						uc004eej.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1165-1167)Agc>Ggc		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.							76	70	72					X																	83361995		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83361995T>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1165A>G	X.37:g.83361995T>C	ENSP00000262752:p.Ser389Gly					RPS6KA6_uc011mqt.2_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S286G	p.S389G	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			13	1201	-			389			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1165A>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895407	0.72639	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.63744	-0.06;-0.06	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.080516	0.85682	D	0.000000	T	0.81735	0.4885	M	0.92268	3.29	0.80722	D	1	P;D	0.54207	0.576;0.965	P;P	0.61533	0.457;0.89	D	0.86433	0.1762	10	0.87932	D	0	.	13.925	0.63958	0.0:0.0:0.0:1.0	.	389;389	B7ZL90;Q9UK32	.;KS6A6_HUMAN	G	389	ENSP00000262752:S389G;ENSP00000440830:S389G	ENSP00000262752:S389G	S	-	1	0	RPS6KA6	83248651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.987000	0.70571	1.733000	0.51620	0.486000	0.48141	AGC		0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		C	83361995	T	C	83361995	3	2	153	1	0	0	0	0	1	0	0	0	13655	1580	55	4	1108	4	RPS6KA6	23	83361995	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	233461	83361995	71908565	189	10779											
HFM1	164045	broad.mit.edu	37	chr1	91843657	91843657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctggtattttttaaagtCtgagaaacagactgtacagt	12	14	10	5	0	1	2	0	1	1	2	1	3	1	2	0	1	3	3	0	1	5	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:91843657C>T	ENST00000370425.3	-	11	1418	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Silent_p.Q119Q	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	440	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTTAAAGTCTGAGAAACAG	0.368																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1318-1320)caG>caA		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							104	96	99					1																	91843657		1826	4085	5911	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843657C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1320G>A	1.37:g.91843657C>T						HFM1_uc010osu.2_Silent_p.Q119Q|HFM1_uc010osv.1_Silent_p.Q124Q|HFM1_uc001doc.1_Silent_p.Q440Q	p.Q440Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	10	1419	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	440			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1320G>A	CCDS30769.2																																																																																				0.368	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91843657	C	T	91843657	2	4	154	1	0	0	0	0	0	0	0	1	7083	912	32	3		3	HFM1	1	91843657	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08		91843657	157406964	1	10780											
LINGO4	339398	broad.mit.edu	37	chr1	151774511	151774511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgccccagcccccgcaGggccccagctggcagcctcc	5	3	12	21	1	0	0	0	0	0	0	1	1	1	0	8	2	5	4	8	2	0	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:151774511G>A	ENST00000368820.3	-	2	1607	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	224						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCCCCGCAGGGCCCCAGCT	0.642																																						uc001ezf.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(670-672)Ctg>Ttg		Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.							39	47	44					1																	151774511		2201	4300	6501	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774511G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.670C>T	1.37:g.151774511G>A						LINGO4_uc021oyu.1_Silent_p.L224L	p.L224L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	860	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		224						Silent	SNP	ENST00000368820.3	37	c.670C>T	CCDS30855.1																																																																																				0.642	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		A	151774511	G	A	151774511	2	1	154	1	0	0	0	0	0	0	0	1	8817	991	35	3		3	LINGO4	1	151774511	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	59930854	151774511	97476110	2	10781											
UBQLN4	56893	broad.mit.edu	37	chr1	156011962	156011962	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctgctgcaggaagactggGagctgcaggcggagctgctc	8	6	16	11	1	0	1	0	0	0	1	1	4	0	4	1	4	6	6	1	4	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156011962G>C	ENST00000368309.3	-	8	1424	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	444					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGAAGACTGGGAGCTGCAGGC	0.617																																						uc001fna.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1330-1332)ctC>ctG		Homo sapiens ubiquilin 4 (UBQLN4), mRNA.							57	61	60					1																	156011962		2203	4300	6503	SO:0001819	synonymous_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156011962G>C	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1332C>G	1.37:g.156011962G>C						UBQLN4_uc010pgx.2_Silent_p.L424L	p.L444L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			7	1356	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		444					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	c.1332C>G	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482564	0.26598	.	.	ENSG00000160803	ENST00000368307	T	0.50548	0.74	4.36	0.0147	0.14101	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.28125	N	0.930433	.	.	.	.	.	.	T	0.28427	-1.0044	6	0.24483	T	0.36	-21.1938	10.0802	0.42384	0.0831:0.5543:0.3626:0.0	.	.	.	.	A	97	ENSP00000357290:P97A	ENSP00000357290:P97A	P	-	1	0	UBQLN4	154278586	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	2.543000	0.45752	-0.151000	0.11176	-1.087000	0.02190	CCC		0.617	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		C	156011962	G	C	156011962	2	2	154	1	0	0	0	0	0	0	0	1	16896	1161	41	5		5	UBQLN4	1	156011962	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	4237451	156011962	93238659	3	10782											
UBQLN4	56893	broad.mit.edu	37	chr1	156021545	156021545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtgagcccgtccttgattCcgtgctggttcagtgtgtcc	4	13	12	12	2	1	2	1	2	0	0	4	2	4	2	4	1	2	2	4	1	0	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156021545C>G	ENST00000368309.3	-	2	304	c.212G>C	c.(211-213)gGa>gCa	p.G71A	LAMTOR2_ENST00000368305.4_5'Flank|UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	71	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GTCCTTGATTCCGTGCTGGTT	0.537																																						uc001fna.3																			0		p.G71R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(211-213)gGa>gCa		Homo sapiens ubiquilin 4 (UBQLN4), mRNA.							131	106	114					1																	156021545		2203	4298	6501	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156021545C>G	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.212G>C	1.37:g.156021545C>G	ENSP00000357292:p.Gly71Ala					UBQLN4_uc010pgx.2_Missense_Mutation_p.G71A|LAMTOR2_uc001fnb.3_5'Flank|LAMTOR2_uc010pgy.1_5'Flank	p.G71A	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			1	236	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		71			Ubiquitin-like.		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.212G>C	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174059	0.78452	.	.	ENSG00000160803	ENST00000368309;ENST00000368307	D;D	0.97480	-4.4;-4.4	4.9	3.98	0.46160	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.94132	0.8118	M	0.66297	2.02	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.22880	0.042;0.042	D	0.92980	0.6405	10	0.72032	D	0.01	-30.0998	14.1257	0.65219	0.0:0.8485:0.1515:0.0	.	71;71	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	A	71	ENSP00000357292:G71A;ENSP00000357290:G71A	ENSP00000357290:G71A	G	-	2	0	UBQLN4	154288169	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.643000	0.83403	1.266000	0.44231	-0.304000	0.09214	GGA		0.537	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		G	156021545	C	G	156021545	3	3	154	1	0	0	0	0	1	0	0	0	16896	855	30	5	1633	5	UBQLN4	1	156021545	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	9583	156021545	93229076	4	10783											
IQGAP3	128239	broad.mit.edu	37	chr1	156501015	156501015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccaggatggaactgtatGatatcggccaacagctgctt	10	10	10	11	1	0	1	0	1	0	0	2	3	1	3	3	3	4	3	3	3	4	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156501015G>C	ENST00000361170.2	-	33	4138	c.4128C>G	c.(4126-4128)atC>atG	p.I1376M	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1376					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAACTGTATGATATCGGCCA	0.587																																						uc001fpf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4126-4128)atC>atG		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.							147	132	137					1																	156501015		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156501015G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4128C>G	1.37:g.156501015G>C	ENSP00000354451:p.Ile1376Met						p.I1376M	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			32	4203	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1376					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4128C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193205	0.22037	.	.	ENSG00000183856	ENST00000361170	T	0.46819	0.86	4.68	3.76	0.43208	.	0.146062	0.47852	D	0.000203	T	0.14570	0.0352	L	0.39397	1.21	0.28832	N	0.897097	P	0.39216	0.664	B	0.27500	0.08	T	0.10497	-1.0627	10	0.87932	D	0	-9.8369	5.0628	0.14566	0.1847:0.1736:0.6417:0.0	.	1376	Q86VI3	IQGA3_HUMAN	M	1376	ENSP00000354451:I1376M	ENSP00000354451:I1376M	I	-	3	3	IQGAP3	154767639	1.000000	0.71417	0.978000	0.43139	0.561000	0.35649	1.163000	0.31798	1.308000	0.44962	0.655000	0.94253	ATC		0.587	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156501015	G	C	156501015	3	2	154	1	0	0	0	0	1	0	0	0	7816	1280	45	5	791	5	IQGAP3	1	156501015	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	479470	156501015	92749606	5	10784											
NTRK1	4914	broad.mit.edu	37	chr1	156834161	156834161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagctacatcgagaaccaGcagcatctgcagcatctgga	13	6	9	13	1	2	1	0	0	2	1	3	3	2	2	1	1	7	5	1	1	2	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156834161G>A	ENST00000524377.1	+	2	269	c.228G>A	c.(226-228)caG>caA	p.Q76Q	NTRK1_ENST00000358660.3_Silent_p.Q76Q|NTRK1_ENST00000368196.3_Silent_p.Q76Q|NTRK1_ENST00000392302.2_Silent_p.Q46Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	76					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCGAGAACCAGCAGCATCTGC	0.597			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(226-228)caG>caA		Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	Imatinib(DB00619)						83	75	78					1																	156834161		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156834161G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.228G>A	1.37:g.156834161G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.Q46Q|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.Q76Q|NTRK1_uc009wsk.1_Silent_p.Q76Q	p.Q76Q	NM_002529	NP_002520	P04629	NTRK1_HUMAN			1	284	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		76					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.228G>A	CCDS1161.1																																																																																				0.597	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		A	156834161	G	A	156834161	2	1	154	1	0	0	0	0	0	0	0	1	10706	962	34	3		3	NTRK1	1	156834161	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	333146	156834161	92416460	6	10785											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917714	156917714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtggggaaggagggtatCtgtgcagaaccccaaactgg	11	6	17	7	0	1	1	0	0	1	1	1	4	1	3	2	6	3	2	2	6	4	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156917714C>T	ENST00000361409.2	-	24	2810	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D730N|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.D106N	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	690					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGGTATCTGTGCAGAAC	0.562																																						uc001fqo.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2068-2070)Gat>Aat		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.							40	41	41					1																	156917714		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917714C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2068G>A	1.37:g.156917714C>T	ENSP00000354644:p.Asp690Asn					ARHGEF11_uc010phu.2_Missense_Mutation_p.D106N|ARHGEF11_uc001fqn.3_Missense_Mutation_p.D730N	p.D690N	NM_014784	NP_055599	O15085	ARHGB_HUMAN			23	3108	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		690					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2068G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870025	0.91587	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.68765	-0.34;-0.35;-0.22	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000012	T	0.51941	0.1704	N	0.08118	0	0.44012	D	0.996728	D;D;D	0.58620	0.963;0.983;0.963	P;P;P	0.54238	0.631;0.746;0.723	T	0.62091	-0.6927	10	0.49607	T	0.09	-20.3163	18.2298	0.89931	0.0:1.0:0.0:0.0	.	106;690;730	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	N	730;690;106	ENSP00000357177:D730N;ENSP00000354644:D690N;ENSP00000313470:D106N	ENSP00000313470:D106N	D	-	1	0	ARHGEF11	155184338	0.954000	0.32549	0.717000	0.30585	0.802000	0.45316	3.597000	0.54031	2.653000	0.90120	0.561000	0.74099	GAT		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156917714	C	T	156917714	3	4	154	1	0	0	0	0	1	0	0	0	896	913	32	3	2568	3	ARHGEF11	1	156917714	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	83553	156917714	92332907	7	10786											
F5	2153	broad.mit.edu	37	chr1	169489788	169489788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaccttgcagttccaatcGaagggtaggtctgttatagg	11	11	11	8	1	1	0	0	0	1	0	3	1	2	0	2	3	2	4	2	3	6	5	rs199690772		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:169489788G>A	ENST00000367797.3	-	22	6364	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	F5_ENST00000367796.3_Nonsense_Mutation_p.R2060*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2055	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGTTCCAATCGAAGGGTAGGT	0.403																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6163-6165)Cga>Tga		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						98	99	99					1																	169489788		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489788G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6163C>T	1.37:g.169489788G>A	ENSP00000356771:p.Arg2055*						p.R2055*	NM_000130	NP_000121	P12259	FA5_HUMAN			21	6308	-	all_hematologic(923;0.208)		2055			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.6163C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	48	14.129090	0.99781	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6985	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	X	2055;2060	.	ENSP00000356770:R2060X	R	-	1	2	F5	167756412	1.000000	0.71417	0.985000	0.45067	0.842000	0.47809	8.508000	0.90525	2.735000	0.93741	0.655000	0.94253	CGA		0.403	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169489788	G	A	169489788	4	1	154	1	0	0	0	0	0	1	0	0	5348	1066	37	2	527	2	F5	1	169489788	Nonsense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	12572074	169489788	79760833	8	10787											
LGR6	59352	broad.mit.edu	37	chr1	202287759	202287759	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggtgaggcacgtggcCtggctcatcttcgcagacgg	6	8	15	12	3	2	2	1	1	1	1	3	2	2	2	2	5	0	3	2	5	0	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:202287759C>A	ENST00000367278.3	+	18	2417	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A	LGR6_ENST00000255432.7_Silent_p.A724A|LGR6_ENST00000439764.2_Silent_p.A637A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	776					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCACGTGGCCTGGCTCATCT	0.637																																						uc001gxu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2326-2328)gcC>gcA		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.							100	79	86					1																	202287759		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287759C>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2328C>A	1.37:g.202287759C>A						LGR6_uc001gxv.3_Silent_p.A724A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A637A	p.A776A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			17	2328	+			776					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2328C>A	CCDS30971.1																																																																																				0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		A	202287759	C	A	202287759	2	1	154	1	0	0	0	0	0	0	0	1	8758	668	24	5		5	LGR6	1	202287759	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	32797971	202287759	46962862	9	10788											
RASSF5	83593	broad.mit.edu	37	chr1	206711530	206711530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtcacccagaatgcCgcagcctgatccagttggac	9	8	9	15	1	2	2	2	1	0	1	3	3	3	3	5	1	2	2	5	1	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206711530C>T	ENST00000355294.4	+	2	544	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	RASSF5_ENST00000367117.3_Missense_Mutation_p.R163C	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	163					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGAATGCCGCAGCCTGAT	0.532																																					GBM(162;656 1984 11916 22872 31529)	uc001hed.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(487-489)Cgc>Tgc		Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.							137	126	130					1																	206711530		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206711530C>T	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.487C>T	1.37:g.206711530C>T	ENSP00000347443:p.Arg163Cys					RASSF5_uc001hec.1_Missense_Mutation_p.R163C|RASSF5_uc001hee.3_Missense_Mutation_p.R163C	p.R163C	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		1	544	+	Breast(84;0.183)		163					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.487C>T	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394735	0.83011	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	D;D;D	0.92699	-3.09;-3.09;-3.09	5.84	5.84	0.93424	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.219339	0.40728	N	0.001040	D	0.95506	0.8540	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.79784	0.987;0.893;0.993	D	0.95465	0.8546	10	0.72032	D	0.01	-12.2298	15.6435	0.77029	0.0:1.0:0.0:0.0	.	163;163;165	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	C	163	ENSP00000347443:R163C;ENSP00000356084:R163C;ENSP00000342620:R163C	ENSP00000342620:R163C	R	+	1	0	RASSF5	204778153	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.427000	0.34881	2.769000	0.95229	0.563000	0.77884	CGC		0.532	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		T	206711530	C	T	206711530	3	4	154	1	0	0	0	0	1	0	0	0	13089	652	23	2	493	2	RASSF5	1	206711530	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	4423771	206711530	42539091	10	10789											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206902080	206902080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggactgccccaaggcccGcagggaggtggagctgcact	8	5	15	13	1	1	0	1	0	0	0	1	3	1	3	3	5	3	3	3	5	1	0	rs151079567		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206902080G>A	ENST00000367103.3	+	2	498	c.305G>A	c.(304-306)cGc>cAc	p.R102H	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.R102H	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCCAAGGCCCGCAGGGAGGTG	0.622													G|||	1	0.000199681	0	0	5008	,	,		15557	0		0.001	False		,,,				2504	0					uc001hem.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(304-306)cGc>cAc		Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.							32	36	35					1																	206902080		2202	4300	6502	SO:0001583	missense	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206902080G>A	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.305G>A	1.37:g.206902080G>A	ENSP00000356070:p.Arg102His					MAPKAPK2_uc001hel.2_Missense_Mutation_p.R102H	p.R102H	NM_032960	NP_116584	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	515	+	Breast(84;0.183)		102			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.305G>A	CCDS31001.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.621345	0.96660	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.65732	-0.17;-0.17	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.75317	0.3833	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.77233	-0.2663	9	0.72032	D	0.01	-19.4649	17.6126	0.88058	0.0:0.0:1.0:0.0	.	102;102	P49137;P49137-2	MAPK2_HUMAN;.	H	102	ENSP00000294981:R102H;ENSP00000356070:R102H	ENSP00000294981:R102H	R	+	2	0	MAPKAPK2	204968703	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.954000	0.87848	2.495000	0.84180	0.655000	0.94253	CGC		0.622	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		A	206902080	G	A	206902080	3	1	154	1	0	0	0	0	1	0	0	0	9289	1087	38	1	311	1	MAPKAPK2	1	206902080	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	190550	206902080	42348541	11	10790											
ESRRG	2104	broad.mit.edu	37	chr1	216737723	216737723	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgagacaatcttgttatCtgcaggatcagaccagagca	13	10	10	8	0	3	3	1	1	2	3	3	5	3	4	1	1	2	3	1	1	2	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:216737723C>G	ENST00000408911.3	-	5	854		c.e5-1		ESRRG_ENST00000361525.3_Splice_Site|ESRRG_ENST00000493603.1_Splice_Site|ESRRG_ENST00000366940.2_Splice_Site|ESRRG_ENST00000463665.1_Splice_Site|ESRRG_ENST00000391890.3_Missense_Mutation_p.D218H|ESRRG_ENST00000359162.2_Splice_Site|ESRRG_ENST00000487276.1_Splice_Site|ESRRG_ENST00000366938.2_Splice_Site|ESRRG_ENST00000361395.2_Splice_Site|ESRRG_ENST00000493748.1_Splice_Site|ESRRG_ENST00000366937.1_Missense_Mutation_p.D246H|ESRRG_ENST00000360012.3_Splice_Site	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma						gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCTTGTTATCTGCAGGATCA	0.433																																						uc001hkw.2																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.e5-1		Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	Diethylstilbestrol(DB00255)						128	110	116					1																	216737723		2203	4300	6503	SO:0001630	splice_region_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737723C>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.701-1G>C	1.37:g.216737723C>G						ESRRG_uc009xdp.1_Splice_Site_p.Y211_splice|ESRRG_uc001hky.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkz.2_Splice_Site_p.Y172_splice|ESRRG_uc010puc.2_Splice_Site_p.Y211_splice|ESRRG_uc001hla.2_Splice_Site_p.Y211_splice|ESRRG_uc001hlb.2_Splice_Site_p.Y211_splice|ESRRG_uc010pud.2_Splice_Site_p.Y49_splice|ESRRG_uc021pja.1_Splice_Site|ESRRG_uc001hlc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hld.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkx.2_Missense_Mutation_p.D246H|ESRRG_uc009xdo.2_Splice_Site_p.Y211_splice|ESRRG_uc001hle.2_Splice_Site_p.Y211_splice|ESRRG_uc021piz.1_Splice_Site_p.Y211_splice	p.Y234_splice	NM_001438	NP_001230435	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	874	-			234					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Splice_Site	SNP	ENST00000408911.3	37	c.701_splice	CCDS41468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.796424|4.796424	0.90453|0.90453	.|.	.|.	ENSG00000196482|ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275|ENST00000366937;ENST00000391890	.|D;D	.|0.98585	.|-5.01;-5.01	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|.	.|.	.|.	.|.	.|D	.|0.98485	.|0.9495	.|.	.|.	.|.	0.43222|0.43222	D|D	0.995106|0.995106	.|D	.|0.65815	.|0.995	.|P	.|0.55824	.|0.785	.|D	.|0.98693	.|1.0697	.|7	.|.	.|.	.|.	.|.	19.3057|19.3057	0.94161|0.94161	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246	.|F8W8J3	.|.	.|H	-1|246;218	.|ENSP00000355904:D246H;ENSP00000375761:D218H	.|.	.|D	-|-	.|1	.|0	ESRRG|ESRRG	214804346|214804346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	.|GAT		0.433	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	Intron	G	216737723	C	G	216737723	5	3	154	1	0	0	0	0	0	0	1	0	5262	927	32	5	688	5	ESRRG	1	216737723	Splice_Site	SNP	C	TCGA-19-2619-01A-01D-1495-08	9835643	216737723	32512898	12	10791											
TSSC1	7260	broad.mit.edu	37	chr2	3193249	3193249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgctcctcgtaggtggcGatcacgttgtcctgcagggg	4	11	15	11	4	1	0	1	0	0	0	5	1	3	0	2	4	2	4	2	4	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:3193249G>A	ENST00000382125.4	-	9	1212	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Silent_p.I367I	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	340										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CGTAGGTGGCGATCACGTTGT	0.657																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(1018-1020)atC>atT		Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.							47	39	42					2																	3193249		2188	4285	6473	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3193249G>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.1020C>T	2.37:g.3193249G>A						TSSC1_uc002qxi.2_Non-coding_Transcript	p.I340I	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	8	1213	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	340					D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.1020C>T	CCDS1651.1																																																																																				0.657	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		A	3193249	G	A	3193249	2	1	154	1	0	0	0	0	0	0	0	1	16663	1048	37	2		2	TSSC1	2	3193249	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		3193249	240006124	13	10792											
MAP4K4	9448	broad.mit.edu	37	chr2	102486218	102486218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgatgtggagcaggaaggGgctgacgagtccacctcagg	10	5	17	9	2	1	1	1	1	0	0	2	6	2	3	2	5	1	2	2	5	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:102486218G>A	ENST00000347699.4	+	20	2355	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G	MAP4K4_ENST00000350198.4_Silent_p.G704G|MAP4K4_ENST00000456652.1_Silent_p.G584G|MAP4K4_ENST00000425019.1_Silent_p.G754G|MAP4K4_ENST00000413150.2_Silent_p.G700G|MAP4K4_ENST00000350878.4_Silent_p.G761G|MAP4K4_ENST00000302217.5_Silent_p.G588G|MAP4K4_ENST00000324219.4_Silent_p.G866G|MAP4K4_ENST00000498066.1_3'UTR	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	785					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAGGAAGGGGCTGACGAGT	0.572																																						uc002tbc.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2596-2598)ggG>ggA		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.							38	44	42					2																	102486218		2082	4209	6291	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102486218G>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2355G>A	2.37:g.102486218G>A						MAP4K4_uc002tbf.3_Silent_p.G755G|MAP4K4_uc002tbd.3_Silent_p.G758G|MAP4K4_uc010yvy.2_Silent_p.G781G|MAP4K4_uc002tbh.3_Silent_p.G703G|MAP4K4_uc002tbg.3_Silent_p.G785G|MAP4K4_uc002tbi.3_Silent_p.G588G|MAP4K4_uc010yvz.2_Silent_p.G761G|MAP4K4_uc002tbk.3_Silent_p.G240G|MAP4K4_uc021vlq.1_5'UTR|MAP4K4_uc002tbl.3_5'UTR	p.G866G	NM_145687	NP_001229488	O95819	M4K4_HUMAN			21	2976	+			785			Mediates interaction with RAP2A.		O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.2598G>A	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928559	0.18131	.	.	ENSG00000071054	ENST00000421882	T	0.10005	2.92	5.19	-1.54	0.08584	.	0.264237	0.38111	N	0.001819	T	0.03959	0.0111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42103	-0.9471	7	0.08179	T	0.78	.	2.0738	0.03619	0.2653:0.3405:0.2797:0.1146	.	.	.	.	S	602	ENSP00000396066:G602S	ENSP00000396066:G602S	G	+	1	0	MAP4K4	101852650	0.834000	0.29399	0.113000	0.21522	0.798000	0.45092	-0.007000	0.12810	-0.332000	0.08489	0.563000	0.77884	GGC		0.572	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		A	102486218	G	A	102486218	2	1	154	1	0	0	0	0	0	0	0	1	9262	1219	43	3		3	MAP4K4	2	102486218	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	99292969	102486218	140713155	14	10793											
ALS2CR8	79800	broad.mit.edu	37	chr2	203806678	203806678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataatgacggtgaagagtCaaaaaccagtgctcaagtat	16	8	9	8	1	2	3	2	2	0	1	2	3	2	3	2	1	2	2	2	1	6	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:203806678C>T	ENST00000402905.3	+	3	374	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CARF_ENST00000428585.1_Missense_Mutation_p.S18L|CARF_ENST00000434998.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.S18L|CARF_ENST00000456821.2_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.S18L|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.S18L|CARF_ENST00000545262.1_Missense_Mutation_p.S18L|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	18					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTGAAGAGTCAAAAACCAGT	0.363																																						uc002uzo.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						c.(52-54)tCa>tTa		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.							135	134	134					2																	203806678		1864	4100	5964	SO:0001583	missense	79800							g.chr2:203806678C>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.53C>T	2.37:g.203806678C>T	ENSP00000384006:p.Ser18Leu					ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S18L|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Intron|ALS2CR8_uc010zia.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S18L	p.S18L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN			2	333	+			18					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.53C>T	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001603	0.74818	.	.	ENSG00000138380	ENST00000402905;ENST00000414490;ENST00000444724;ENST00000414857;ENST00000430899;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000428585;ENST00000545262;ENST00000447539;ENST00000320443;ENST00000438828	.	.	.	5.83	5.83	0.93111	.	0.388153	0.22227	N	0.062868	T	0.64821	0.2633	M	0.61703	1.905	0.37365	D	0.911389	P;P;P;P	0.50156	0.884;0.932;0.649;0.932	B;P;B;B	0.48454	0.396;0.578;0.322;0.439	T	0.71842	-0.4470	9	0.66056	D	0.02	-3.3957	16.8303	0.85942	0.0:1.0:0.0:0.0	.	18;18;18;18	G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	L	18	.	ENSP00000316224:S18L	S	+	2	0	ALS2CR8	203514923	1.000000	0.71417	0.042000	0.18584	0.900000	0.52787	4.260000	0.58835	2.747000	0.94245	0.650000	0.86243	TCA		0.363	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		T	203806678	C	T	203806678	3	4	154	1	0	0	0	0	1	0	0	0	555	838	29	3	55	3	ALS2CR8	2	203806678	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	101320460	203806678	39392695	15	10794											
ABI3BP	25890	broad.mit.edu	37	chr3	100568897	100568897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattagttaccaggtgtcGtaggctgcatttctggactg	7	14	12	8	1	2	0	1	0	1	0	3	1	2	1	1	3	2	4	1	3	3	4	rs199845098	byFrequency	TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:100568897G>A	ENST00000284322.5	-	15	1476	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	ABI3BP_ENST00000495063.1_Missense_Mutation_p.T505M|ABI3BP_ENST00000471714.1_Missense_Mutation_p.T505M	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	456	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCAGGTGTCGTAGGCTGCAT	0.378													G|||	11	0.00219649	0.0083	0	5008	,	,		19911	0		0	False		,,,				2504	0					uc003dun.3																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1366-1368)aCg>aTg		Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.		G	MET/THR	7,3755		0,7,1874	107	101	103		1367	5.5	1	3		103	2,8218		0,2,4108	yes	missense	ABI3BP	NM_015429.3	81	0,9,5982	AA,AG,GG		0.0243,0.1861,0.0751	probably-damaging	456/1076	100568897	9,11973	1881	4110	5991	SO:0001583	missense	25890					extracellular space		g.chr3:100568897G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1367C>T	3.37:g.100568897G>A	ENSP00000284322:p.Thr456Met					ABI3BP_uc003duo.2_Missense_Mutation_p.T498M	p.T456M	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			14	1452	-			456			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1367C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.10|12.10	1.836835|1.836835	0.32421|0.32421	0.001861|0.001861	2.43E-4|2.43E-4	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|T;T;T	.|0.58358	.|0.34;0.34;0.34	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.202101	.|0.41396	.|D	.|0.000897	.|T	.|0.64483	.|0.2602	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.63703	.|0.917;0.65	.|T	.|0.64508	.|-0.6391	.|10	.|0.52906	.|T	.|0.07	-12.4961|-12.4961	10.9474|10.9474	0.47308|0.47308	0.1289:0.0:0.8711:0.0|0.1289:0.0:0.8711:0.0	.|.	.|505;456	.|Q5JPC9;Q7Z7G0	.|.;TARSH_HUMAN	X|M	134|505;456;505	.|ENSP00000420524:T505M;ENSP00000284322:T456M;ENSP00000433993:T505M	.|ENSP00000284322:T456M	R|T	-|-	1|2	2|0	ABI3BP|ABI3BP	102051587|102051587	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.017000|0.017000	0.09413|0.09413	2.457000|2.457000	0.45005|0.45005	2.758000|2.758000	0.94735|0.94735	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.378	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			A	100568897	G	A	100568897	3	1	154	1	0	0	0	0	1	0	0	0	91	1145	40	1	1944	1	ABI3BP	3	100568897	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		100568897	97453533	16	10795											
MYH15	22989	broad.mit.edu	37	chr3	108205332	108205332	+	Frame_Shift_Del	DEL	A	A	-																															agtaactgctccacaggagcAaaagtggaagtctgagggat																										TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:108205332delA	ENST00000273353.3	-	11	1029	c.973delT	c.(973-975)tgcfs	p.C325fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	325	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCACAGGAGCAAAAGTGGAAG	0.438																																						uc003dxa.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(973-975)tgcfs		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							81	81	81					3																	108205332		1878	4110	5988	SO:0001589	frameshift_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108205332delA	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.973delT	3.37:g.108205332delA	ENSP00000273353:p.Cys325fs						p.C325fs	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			10	1030	-			325			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000273353.3	37	c.973delT	CCDS43127.1																																																																																				0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		-	108205332	A	-	108205332	7	5	154	1	0	1	0	1	0	0	0	0	10034	130	5	0	4995	0	MYH15	3	108205332	Frame_Shift_Del	DEL	A	TCGA-19-2619-01A-01D-1495-08	7636435	108205332	89817098	17	10796											
ZIC1	7545	broad.mit.edu	37	chr3	147128425	147128425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggacatgtacccgcgaccgGagcagtacggccaggtgacc	9	4	15	13	4	0	1	0	1	0	0	0	4	0	3	4	4	3	3	4	4	2	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:147128425G>A	ENST00000282928.4	+	1	1255	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	176					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCGCGACCGGAGCAGTACGG	0.682																																						uc003ewe.3																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(526-528)Gag>Aag		Homo sapiens Zic family member 1 (ZIC1), mRNA.							33	37	35					3																	147128425		2203	4297	6500	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128425G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.526G>A	3.37:g.147128425G>A	ENSP00000282928:p.Glu176Lys						p.E176K	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			0	1245	+			176					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.526G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633591	0.67015	.	.	ENSG00000152977	ENST00000282928	T	0.37058	1.22	3.21	3.21	0.36854	.	0.172361	0.50627	D	0.000118	T	0.37348	0.1000	L	0.60455	1.87	0.58432	D	0.999998	B	0.16802	0.019	B	0.22601	0.04	T	0.46707	-0.9172	10	0.87932	D	0	.	14.8968	0.70649	0.0:0.0:1.0:0.0	.	176	Q15915	ZIC1_HUMAN	K	176	ENSP00000282928:E176K	ENSP00000282928:E176K	E	+	1	0	ZIC1	148611115	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.237000	0.95368	1.787000	0.52448	0.549000	0.68633	GAG		0.682	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		A	147128425	G	A	147128425	3	1	154	1	0	0	0	0	1	0	0	0	17675	1175	41	3	528	3	ZIC1	3	147128425	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	38923093	147128425	50894005	18	10797											
POU4F2	5458	broad.mit.edu	37	chr4	147561770	147561770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggcgcggagaagaagcGcaagcgcacgtccatcgctg	11	4	14	12	6	0	2	0	0	0	2	2	3	1	2	1	2	2	3	1	2	4	0	rs564340231		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr4:147561770G>A	ENST00000281321.3	+	2	1288	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	347					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GAGAAGAAGCGCAAGCGCACG	0.622													G|||	1	0.000199681	0	0	5008	,	,		16735	0		0	False		,,,				2504	0.001					uc003ikv.3																			0		p.R347C(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1039-1041)cGc>cAc		Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.							87	90	89					4																	147561770		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561770G>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1040G>A	4.37:g.147561770G>A	ENSP00000281321:p.Arg347His						p.R347H	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	1288	+	all_hematologic(180;0.151)		347					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1040G>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481166	0.84747	.	.	ENSG00000151615	ENST00000281321	D	0.97138	-4.26	5.49	5.49	0.81192	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.98466	4.24	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.98994	1.0809	10	0.87932	D	0	.	19.37	0.94480	0.0:0.0:1.0:0.0	.	347	Q12837	PO4F2_HUMAN	H	347	ENSP00000281321:R347H	ENSP00000281321:R347H	R	+	2	0	POU4F2	147781220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.595000	0.87683	0.561000	0.74099	CGC		0.622	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		A	147561770	G	A	147561770	3	1	154	1	0	0	0	0	1	0	0	0	12279	1087	38	1	1046	1	POU4F2	4	147561770	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		147561770	43592506	19	10798											
ZDHHC11	79844	broad.mit.edu	37	chr5	825284	825284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgactgcaacttacccgtgCcgtcgaatccccatcctggt	7	10	9	15	3	0	1	0	1	0	0	3	2	2	1	5	1	4	1	5	1	3	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:825284C>T	ENST00000283441.8	-	8	1401	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.A340T|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	340						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTACCCGTGCCGTCGAATCC	0.542																																						uc011cma.1																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(1018-1020)Gca>Aca		Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.							167	122	137					5																	825284		2203	4296	6499	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:825284C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1018G>A	5.37:g.825284C>T	ENSP00000283441:p.Ala340Thr					ZDHHC11_uc010itc.3_5'Flank|ZDHHC11_uc010itd.1_Non-coding_Transcript	p.A340T	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		7	1402	-			340					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.1018G>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	12.33	1.905729	0.33628	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.31769	1.48;1.48	0.131	0.131	0.14755	.	.	.	.	.	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.45506	0.483	T	0.18304	-1.0341	8	0.15066	T	0.55	.	.	.	.	.	340	Q9H8X9	ZDH11_HUMAN	T	340	ENSP00000397719:A340T;ENSP00000283441:A340T	ENSP00000283441:A340T	A	-	1	0	ZDHHC11	878284	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.465000	0.06680	0.171000	0.19730	0.174000	0.16983	GCA		0.542	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	825284	C	T	825284	3	4	154	1	0	0	0	0	1	0	0	0	17598	739	26	3	240	3	ZDHHC11	5	825284	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		825284	180089976	20	10799											
HTR1A	3350	broad.mit.edu	37	chr5	63257205	63257205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagcacagcacgtcgagGgcgatgaacaggtcgcaggt	10	5	16	10	4	0	1	0	1	0	0	2	3	0	1	0	3	4	4	0	3	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:63257205G>A	ENST00000323865.3	-	1	575	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	114	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCACGTCGAGGGCGATGAACA	0.607																																						uc011cqt.2																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(340-342)gcC>gcT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						70	63	65					5																	63257205		2202	4300	6502	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257205G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.342C>T	5.37:g.63257205G>A							p.A114A	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	0	342	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	114					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.342C>T	CCDS34168.1																																																																																				0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		A	63257205	G	A	63257205	2	1	154	1	0	0	0	0	0	0	0	1	7436	1219	43	3		3	HTR1A	5	63257205	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	62431921	63257205	117658055	21	10800											
PCDHA5	56143	broad.mit.edu	37	chr5	140203141	140203141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcgaaggtgcGcgcagtggaccctgattcgg	6	7	17	11	5	0	1	0	1	0	0	1	3	0	2	2	5	1	1	2	5	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:140203141G>A	ENST00000529859.1	+	1	1781	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R594H|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R594H|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.697																																						uc003lhl.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1780-1782)cGc>cAc		Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.							69	74	72					5																	140203141		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140203141G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1781G>A	5.37:g.140203141G>A	ENSP00000436557:p.Arg594His					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R594H|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R594H	p.R594H	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1781	+			608			Cadherin 6.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1781G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273994	0.23221	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.66;0.66;0.66	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38214	0.1032	L	0.52011	1.625	0.22378	N	0.999156	B;B;B	0.30406	0.278;0.171;0.171	B;B;B	0.26202	0.036;0.067;0.067	T	0.21484	-1.0244	9	0.37606	T	0.19	.	6.9485	0.24532	0.0918:0.0:0.7352:0.173	.	594;594;594	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	594	ENSP00000433416:R594H;ENSP00000436557:R594H;ENSP00000367366:R594H	ENSP00000367366:R594H	R	+	2	0	PCDHA5	140183325	0.001000	0.12720	1.000000	0.80357	0.564000	0.35744	0.856000	0.27818	1.887000	0.54652	0.306000	0.20318	CGC		0.697	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140203141	G	A	140203141	3	1	154	1	0	0	0	0	1	0	0	0	11527	1087	38	1	1783	1	PCDHA5	5	140203141	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	76945936	140203141	40712119	22	10801											
RGS14	10636	broad.mit.edu	37	chr5	176794018	176794018	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccggccggacatgtttCgggcacagcagcttcaggtg	7	7	14	13	3	1	0	1	0	0	0	2	1	1	1	3	4	3	4	3	4	0	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:176794018C>A	ENST00000408923.3	+	5	654	c.466C>A	c.(466-468)Cgg>Agg	p.R156R		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	156	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACATGTTTCGGGCACAGCA	0.662																																					NSCLC(47;353 1896 28036)	uc003mgh.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(466-468)Cgg>Agg		Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.							30	40	36					5																	176794018		1935	4134	6069	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176794018C>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.466C>A	5.37:g.176794018C>A						RGS14_uc003mgf.3_Silent_p.R156R|RGS14_uc003mgg.1_Silent_p.R3R|RGS14_uc003mgi.3_5'Flank	p.R156R	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	648	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	156			RGS.		O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.466C>A	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	4.818	0.152155	0.09185	.	.	ENSG00000169220	ENST00000511890	T	0.05258	3.47	4.26	4.26	0.50523	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00382	-1.1775	6	0.87932	D	0	-26.1009	7.1915	0.25828	0.3081:0.5335:0.1584:0.0	.	.	.	.	L	25	ENSP00000422329:F25L	ENSP00000422329:F25L	F	+	3	2	RGS14	176726624	0.482000	0.25948	0.996000	0.52242	0.334000	0.28698	2.726000	0.47302	2.226000	0.72624	0.313000	0.20887	TTC		0.662	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		A	176794018	C	A	176794018	2	1	154	1	0	0	0	0	0	0	0	1	13297	875	31	5		5	RGS14	5	176794018	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	36590877	176794018	4121242	23	10802											
PTK7	5754	broad.mit.edu	37	chr6	43109925	43109925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggatgcacatcttccaGaatggctccctggtgatcca	10	9	10	12	0	1	2	0	1	1	1	4	4	4	3	3	3	1	2	3	3	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43109925G>A	ENST00000230419.4	+	13	2156	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Silent_p.Q653Q|PTK7_ENST00000345201.2_Silent_p.Q605Q|PTK7_ENST00000349241.2_Silent_p.Q515Q	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	645	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACATCTTCCAGAATGGCTCCC	0.642																																						uc011dve.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1957-1959)caG>caA		Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.							82	83	82					6																	43109925		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109925G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1935G>A	6.37:g.43109925G>A						PTK7_uc003oub.1_Silent_p.Q645Q|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.Q605Q|PTK7_uc003oue.1_Silent_p.Q515Q|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	p.Q653Q	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		12	2001	+			645			Ig-like C2-type 7.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1959G>A	CCDS4884.1																																																																																				0.642	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			A	43109925	G	A	43109925	2	1	154	1	0	0	0	0	0	0	0	1	12765	933	33	3		3	PTK7	6	43109925	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		43109925	128005142	24	10803											
SRF	6722	broad.mit.edu	37	chr6	43141721	43141721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcaaggcactgattcagaCctgcctcaactcgccagact	10	7	9	15	2	2	3	2	1	0	2	3	3	2	3	3	2	2	2	3	2	2	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43141721C>T	ENST00000265354.4	+	2	1008	c.650C>T	c.(649-651)aCc>aTc	p.T217I	SRF_ENST00000457278.2_Missense_Mutation_p.T13I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	217	Involved in dimerization.				angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGATTCAGACCTGCCTCAAC	0.557																																						uc003oui.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12						c.(649-651)aCc>aTc		Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.							179	136	151					6																	43141721		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43141721C>T	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.650C>T	6.37:g.43141721C>T	ENSP00000265354:p.Thr217Ile					SRF_uc011dvf.2_Missense_Mutation_p.T13I	p.T217I	NM_003131	NP_003122	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		1	1125	+			217			Involved in dimerization.		Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.650C>T	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917944	0.92249	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.85773	-2.03	5.11	5.11	0.69529	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91963	0.5580	10	0.87932	D	0	-1.0027	18.5424	0.91033	0.0:1.0:0.0:0.0	.	217	P11831	SRF_HUMAN	I	217;13	ENSP00000265354:T217I	ENSP00000265354:T217I	T	+	2	0	SRF	43249699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.113000	0.77095	2.371000	0.80710	0.561000	0.74099	ACC		0.557	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		T	43141721	C	T	43141721	3	4	154	1	0	0	0	0	1	0	0	0	15142	507	18	3	656	3	SRF	6	43141721	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	31796	43141721	127973346	25	10804											
PLG	5340	broad.mit.edu	37	chr6	161127557	161127557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaaatgtgaggaggaCgaagaattcacctgcaggta	15	6	13	7	1	1	2	1	1	0	1	1	5	1	4	1	3	2	4	1	3	5	2	rs144100362		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:161127557C>T	ENST00000308192.9	+	2	231	c.168C>T	c.(166-168)gaC>gaT	p.D56D	PLG_ENST00000366924.2_Silent_p.D56D|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	56	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTGAGGAGGACGAAGAATTCA	0.413																																						uc003qtm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(166-168)gaC>gaT		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	C	,	0,4406		0,0,2203	139	141	140		168,168	-2.3	0	6	dbSNP_134	140	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous	PLG	NM_000301.3,NM_001168338.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	56/811,56/137	161127557	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127557C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.168C>T	6.37:g.161127557C>T						PLG_uc021zhr.1_Silent_p.D56D	p.D56D	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	1	280	+			56			PAN.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.168C>T	CCDS5279.1																																																																																				0.413	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161127557	C	T	161127557	2	4	154	1	0	0	0	0	0	0	0	1	12086	535	19	1		1	PLG	6	161127557	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	117985836	161127557	9987510	26	10805											
ZNF107	51427	broad.mit.edu	37	chr7	64168371	64168371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcaaagtttttaaccaGtcctcaaaccttactacaca	14	11	4	12	0	1	0	1	0	0	0	2	0	2	0	3	1	4	2	3	1	5	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:64168371G>A	ENST00000395391.1	+	4	3064	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF107_ENST00000423627.1_Silent_p.Q563Q|ZNF107_ENST00000344930.3_Silent_p.Q563Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTTTAACCAGTCCTCAAACC	0.348																																						uc003ttd.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1687-1689)caG>caA		Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.							44	50	48					7																	64168371		2201	4296	6497	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168371G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1689G>A	7.37:g.64168371G>A						ZNF107_uc003tte.3_Silent_p.Q563Q	p.Q563Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			6	2475	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	563						Silent	SNP	ENST00000395391.1	37	c.1689G>A	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		A	64168371	G	A	64168371	2	1	154	1	0	0	0	0	0	0	0	1	17712	1020	36	3		3	ZNF107	7	64168371	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		64168371	94970292	27	10806											
PCLO	27445	broad.mit.edu	37	chr7	82581607	82581607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgattccctgggataCggtgctatcagtccatccat	9	12	9	11	1	2	1	2	1	0	0	5	2	5	2	3	2	2	1	3	2	2	3	rs529385259	byFrequency	TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:82581607C>T	ENST00000333891.9	-	5	8999	c.8662G>A	c.(8662-8664)Gta>Ata	p.V2888I	PCLO_ENST00000423517.2_Missense_Mutation_p.V2888I|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCTGGGATACGGTGCTATCA	0.463													C|||	15	0.00299521	0	0	5008	,	,		22358	0		0	False		,,,				2504	0.0153					uc003uhx.2																			0		p.T2887T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8662-8664)Gta>Ata		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							162	151	155					7																	82581607		2004	4170	6174	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581607C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8662G>A	7.37:g.82581607C>T	ENSP00000334319:p.Val2888Ile					PCLO_uc003uhv.2_Missense_Mutation_p.V2888I|PCLO_uc010lec.3_5'Flank	p.V2888I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	8951	-			2819						Missense_Mutation	SNP	ENST00000333891.9	37	c.8662G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592047	0.13812	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	5.68	0.194	0.15143	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.24421	N	0.994611	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31081	-0.9956	9	0.87932	D	0	.	5.7351	0.18061	0.0:0.1981:0.2399:0.5619	.	2888;2888	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2819;2888;2888	ENSP00000334319:V2888I;ENSP00000388393:V2888I	ENSP00000334319:V2888I	V	-	1	0	PCLO	82419543	0.001000	0.12720	0.007000	0.13788	0.898000	0.52572	-0.279000	0.08479	0.069000	0.16605	-0.414000	0.06135	GTA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82581607	C	T	82581607	3	4	154	1	0	0	0	0	1	0	0	0	11583	536	19	1	6867	1	PCLO	7	82581607	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	18413236	82581607	76557056	28	10807											
COL1A2	1278	broad.mit.edu	37	chr7	94043012	94043012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatttttagggtgctccagGtcctgatggaaacaatggtg	10	13	12	6	0	0	1	0	1	0	0	2	2	2	2	2	4	2	1	2	4	4	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:94043012G>T	ENST00000297268.6	+	27	2039	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	523					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTCCAGGTCCTGATGGA	0.438										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0		p.G523S(1)		NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1567-1569)gGt>gTt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						105	99	101					7																	94043012		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94043012G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1568G>T	7.37:g.94043012G>T	ENSP00000297268:p.Gly523Val	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G523V	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		26	2039	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		523					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1568G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084980	0.76642	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.98807	-5.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97684	1.0174	10	0.87932	D	0	.	19.5643	0.95386	0.0:0.0:1.0:0.0	.	523	P08123	CO1A2_HUMAN	V	523;524	ENSP00000297268:G523V	ENSP00000297268:G523V	G	+	2	0	COL1A2	93880948	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.700000	0.92200	0.655000	0.94253	GGT		0.438	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94043012	G	T	94043012	3	4	154	1	0	0	0	0	1	0	0	0	3678	1261	44	5	1674	5	COL1A2	7	94043012	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11461405	94043012	65095651	29	10808											
INTS10	55174	broad.mit.edu	37	chr8	19690804	19690804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctcatccagctggcgaCgtgccactttgcgctagggg	5	8	15	13	4	1	0	1	0	0	0	2	1	2	0	2	4	3	3	2	4	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:19690804C>T	ENST00000397977.3	+	12	1900	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	501					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGCTGGCGACGTGCCACTTT	0.602																																						uc022asn.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1504-1506)aCg>aTg		Homo sapiens integrator complex subunit 10 (INTS10), mRNA.							36	41	40					8																	19690804		2112	4244	6356	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19690804C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1502C>T	8.37:g.19690804C>T	ENSP00000381064:p.Thr501Met					INTS10_uc003wzj.3_Missense_Mutation_p.T501M	p.T502M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	11	1636	+			501					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1505C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785797	0.49997	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.37	5.37	0.77165	.	0.048656	0.85682	D	0.000000	T	0.51805	0.1696	N	0.12182	0.205	0.47819	D	0.999525	D	0.60575	0.988	P	0.56474	0.799	T	0.59685	-0.7408	9	0.66056	D	0.02	-22.7399	18.0448	0.89329	0.0:1.0:0.0:0.0	.	501	Q9NVR2	INT10_HUMAN	M	501	.	ENSP00000381064:T501M	T	+	2	0	INTS10	19735084	1.000000	0.71417	0.075000	0.20258	0.361000	0.29550	7.445000	0.80570	2.667000	0.90743	0.563000	0.77884	ACG		0.602	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		T	19690804	C	T	19690804	3	4	154	1	0	0	0	0	1	0	0	0	7776	536	19	1	1548	1	INTS10	8	19690804	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		19690804	126673218	30	10809											
ENPP2	5168	broad.mit.edu	37	chr8	120598445	120598445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcaacatgccatctgcGttccaccaataaatggatat	12	11	6	12	1	1	0	0	0	1	0	2	1	2	1	4	1	4	2	4	1	5	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:120598445G>A	ENST00000075322.6	-	15	1406	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	ENPP2_ENST00000427067.2_Missense_Mutation_p.R446C|ENPP2_ENST00000259486.6_Missense_Mutation_p.R502C|ENPP2_ENST00000522167.1_Missense_Mutation_p.R89C|ENPP2_ENST00000522826.1_Missense_Mutation_p.R450C	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	450					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCCATCTGCGTTCCACCAAT	0.413																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1504-1506)Cgc>Tgc		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							196	171	180					8																	120598445		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120598445G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1348C>T	8.37:g.120598445G>A	ENSP00000075322:p.Arg450Cys					ENPP2_uc011lic.2_5'Flank|ENPP2_uc003yor.2_Missense_Mutation_p.R89C|ENPP2_uc010mdd.2_Missense_Mutation_p.R450C|ENPP2_uc003yot.2_Missense_Mutation_p.R450C	p.R502C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	1590	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		450					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1504C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638475	0.67130	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.64	4.68	0.58851	Alkaline-phosphatase-like, core domain (1);	0.046251	0.85682	D	0.000000	T	0.81158	0.4764	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.70016	0.93;0.967;0.96;0.951	T	0.82786	-0.0285	10	0.72032	D	0.01	-13.2498	16.4524	0.83996	0.0:0.0:0.8031:0.1969	.	450;450;502;89	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	C	502;446;89;450;450	ENSP00000259486:R502C;ENSP00000403315:R446C;ENSP00000429476:R89C;ENSP00000428291:R450C;ENSP00000075322:R450C	ENSP00000075322:R450C	R	-	1	0	ENPP2	120667626	1.000000	0.71417	0.965000	0.40720	0.950000	0.60333	3.257000	0.51500	2.660000	0.90430	0.555000	0.69702	CGC		0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120598445	G	A	120598445	3	1	154	1	0	0	0	0	1	0	0	0	5130	1145	40	1	1366	1	ENPP2	8	120598445	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	100907641	120598445	25765577	31	10810											
IFNB1	3456	broad.mit.edu	37	chr9	21077338	21077338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacctgtaagtctgttaatGaagtaaaagttccttaggat	14	14	8	5	0	1	1	0	1	1	0	2	2	2	2	2	1	1	4	2	1	7	6			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr9:21077338G>A	ENST00000380232.2	-	1	605	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	177					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GTCTGTTAATGAAGTAAAAGT	0.453																																						uc003zok.3																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(529-531)ttC>ttT		Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						122	117	118					9																	21077338		2203	4300	6503	SO:0001819	synonymous_variant	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077338G>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"Interferons"	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.531C>T	9.37:g.21077338G>A							p.F177F	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	0	606	-			177					Q5VWC9	Silent	SNP	ENST00000380232.2	37	c.531C>T	CCDS6495.1																																																																																				0.453	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		A	21077338	G	A	21077338	2	1	154	1	0	0	0	0	0	0	0	1	7546	1281	45	3		3	IFNB1	9	21077338	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		21077338	120136093	32	10811											
AKR1E2	83592	broad.mit.edu	37	chr10	4873008	4873008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaggcgctgtaagaCgggaggatctgttcattgcc	10	9	14	8	2	3	1	2	0	1	1	3	4	3	4	1	4	1	3	1	4	3	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:4873008C>T	ENST00000298375.7	+	2	252	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	AKR1E2_ENST00000334019.4_Missense_Mutation_p.R61W|AKR1E2_ENST00000532248.1_Missense_Mutation_p.R61W|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R61W|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	61						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.R61W(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CGCTGTAAGACGGGAGGATCT	0.507																																					NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.3																			1	Substitution - Missense(1)	p.R61W(2)|p.R61L(1)|p.R61R(1)	endometrium(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(181-183)Cgg>Tgg		Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.							158	132	141					10																	4873008		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4873008C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.181C>T	10.37:g.4873008C>T	ENSP00000298375:p.Arg61Trp					AKR1E2_uc010qam.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihh.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.R61W|AKR1E2_uc009xhw.3_Missense_Mutation_p.R61W	p.R61W	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			1	296	+			61					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.181C>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172125	0.21704	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.70045	-0.45;1.24;1.24;1.24;1.24	4.01	0.922	0.19408	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.86472	0.5941	H	0.98111	4.15	0.38162	D	0.939051	D;P;P;D	0.89917	1.0;0.68;0.884;0.995	D;B;P;P	0.97110	1.0;0.393;0.662;0.801	D	0.88713	0.3224	10	0.87932	D	0	.	11.2157	0.48825	0.6649:0.3351:0.0:0.0	.	61;61;61;61	Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;AKCL2_HUMAN;.	W	65;61;61;61;61	ENSP00000435436:R65W;ENSP00000298375:R61W;ENSP00000432947:R61W;ENSP00000335034:R61W;ENSP00000335603:R61W	ENSP00000298375:R61W	R	+	1	2	AKR1E2	4863008	0.013000	0.17824	0.078000	0.20375	0.025000	0.11179	0.135000	0.15952	0.202000	0.20498	-0.314000	0.08810	CGG		0.507	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		T	4873008	C	T	4873008	3	4	154	1	0	0	0	0	1	0	0	0	474	527	19	1	187	1	AKR1E2	10	4873008	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		4873008	130661739	33	10812											
ITIH2	3698	broad.mit.edu	37	chr10	7762869	7762869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatttcttcatgttccCgacacatttgaaggccattt	9	15	7	10	1	2	2	1	2	1	1	3	4	3	2	2	1	0	1	2	1	1	5	rs144114794		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:7762869C>T	ENST00000358415.4	+	7	847	c.681C>T	c.(679-681)ccC>ccT	p.P227P	ITIH2_ENST00000379587.4_Silent_p.P216P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	227					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P227P(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCATGTTCCCGACACATTTG	0.453																																						uc001ijs.3																			1	Substitution - coding silent(1)	p.P227P(2)	lung(1)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(679-681)ccC>ccT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.		C		0,4406		0,0,2203	164	140	148		681	-1.7	1	10	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITIH2	NM_002216.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		227/947	7762869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762869C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.681C>T	10.37:g.7762869C>T							p.P227P	NM_002216	NP_002207	P19823	ITIH2_HUMAN			6	843	+			227					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.681C>T	CCDS31141.1																																																																																				0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7762869	C	T	7762869	2	4	154	1	0	0	0	0	0	0	0	1	7904	639	23	2		2	ITIH2	10	7762869	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	2889861	7762869	127771878	34	10813											
C10orf68	79741	broad.mit.edu	37	chr10	33000595	33000595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcttaaacatcaagatTcagtgtcaaaaatccaagtg	16	11	6	8	0	3	1	3	0	0	1	4	1	4	1	1	0	2	1	1	0	7	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:33000595T>C	ENST00000375030.2	+	10	1069	c.451T>C	c.(451-453)Tca>Cca	p.S151P	C10orf68_ENST00000375025.4_Missense_Mutation_p.S143P|C10orf68_ENST00000375028.3_Missense_Mutation_p.S119P			Q9H943	CJ068_HUMAN		143										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACATCAAGATTCAGTGTCAAA	0.308																																						uc001iwm.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(355-357)Tca>Cca		Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.							67	70	69					10																	33000595		2203	4297	6500	SO:0001583	missense	79741							g.chr10:33000595T>C																												ENST00000375030.2:c.451T>C	10.37:g.33000595T>C	ENSP00000364170:p.Ser151Pro					C10orf68_uc001iwl.1_Missense_Mutation_p.S151P|C10orf68_uc001iwn.4_Missense_Mutation_p.S143P|C10orf68_uc010qei.1_Missense_Mutation_p.S70P	p.S119P	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			4	591	+			143					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.355T>C		.	.	.	.	.	.	.	.	.	.	.	4.289	0.052756	0.08291	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.34275	1.52;1.49;1.37;1.5	2.71	0.303	0.15791	.	.	.	.	.	T	0.28896	0.0717	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.21905	0.009;0.025;0.009;0.062	B;B;B;B	0.20384	0.018;0.018;0.018;0.029	T	0.30416	-0.9979	9	0.72032	D	0.01	.	4.5992	0.12345	0.0:0.125:0.1967:0.6783	.	75;143;119;151	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	P	143;151;119;143;91	ENSP00000303710:S143P;ENSP00000364170:S151P;ENSP00000364168:S119P;ENSP00000364165:S143P	ENSP00000303710:S143P	S	+	1	0	C10orf68	33040601	0.001000	0.12720	0.016000	0.15963	0.035000	0.12851	0.137000	0.15995	-0.270000	0.09285	-2.386000	0.00229	TCA		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			C	33000595	T	C	33000595	3	2	154	1	0	0	0	0	1	0	0	0	1613	1783	62	4	445	4	C10orf68	10	33000595	Missense_Mutation	SNP	T	TCGA-19-2619-01A-01D-1495-08	25237726	33000595	102534152	35	10814											
NAV3	89795	broad.mit.edu	37	chr12	78591133	78591133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatcttcatcatgtgggctCtctgagtgatatcttcaatg	9	16	8	8	0	6	2	3	2	3	0	7	2	6	2	0	1	0	1	0	1	3	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:78591133C>G	ENST00000397909.2	+	35	6571	c.6398C>G	c.(6397-6399)tCt>tGt	p.S2133C	NAV3_ENST00000266692.7_Missense_Mutation_p.S1934C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2111C|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000228327.6_Missense_Mutation_p.S2111C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2133						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATGTGGGCTCTCTGAGTGAT	0.328										HNSCC(70;0.22)																												uc001syp.3																			0		p.T2133S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6397-6399)tCt>tGt		Homo sapiens neuron navigator 3 (NAV3), mRNA.							123	110	114					12																	78591133		1825	4080	5905	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78591133C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6398C>G	12.37:g.78591133C>G	ENSP00000381007:p.Ser2133Cys	HNSCC(70;0.22)				NAV3_uc001syo.3_Missense_Mutation_p.S2111C|NAV3_uc010sub.2_Missense_Mutation_p.S1590C|NAV3_uc009zsf.3_Missense_Mutation_p.S942C	p.S2133C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			34	6571	+			2133					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6398C>G		.	.	.	.	.	.	.	.	.	.	C	25.8	4.671054	0.88348	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.36878	1.29;1.27;1.28;1.23;2.01	5.54	5.54	0.83059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.39146	U	0.001452	T	0.71854	0.3389	M	0.93283	3.4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.999;0.998	T	0.79001	-0.1981	10	0.72032	D	0.01	-13.8557	19.8339	0.96646	0.0:1.0:0.0:0.0	.	2111;1934;2133;2111	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	C	2111;2133;2111;1934;725;733	ENSP00000446132:S2111C;ENSP00000381007:S2133C;ENSP00000228327:S2111C;ENSP00000266692:S1934C;ENSP00000448303:S733C	ENSP00000228327:S2111C	S	+	2	0	NAV3	77115264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.751000	0.94390	0.655000	0.94253	TCT		0.328	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78591133	C	G	78591133	3	3	154	1	0	0	0	0	1	0	0	0	10185	913	32	5	6466	5	NAV3	12	78591133	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		78591133	55260762	36	10815											
PAWR	5074	broad.mit.edu	37	chr12	80014954	80014954	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtttccgctctttctGccctgcttcatcatcttcgt	2	19	5	15	3	6	0	2	0	4	0	9	0	7	0	2	0	2	3	2	0	0	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:80014954G>A	ENST00000328827.4	-	3	922	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	184	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGCTCTTTCTGCCCTGCTTCA	0.363																																						uc001syx.3																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(550-552)Cag>Tag		Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.							291	228	249					12																	80014954		2203	4300	6503	SO:0001587	stop_gained	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80014954G>A	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.550C>T	12.37:g.80014954G>A	ENSP00000328088:p.Gln184*						p.Q184*	NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN			2	836	-			184			Selective for apoptosis induction in cancer cells (SAC).		O75796|Q6FHY9|Q8N700	Nonsense_Mutation	SNP	ENST00000328827.4	37	c.550C>T	CCDS31863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.082302|7.082302	0.98051|0.98051	.|.	.|.	ENSG00000177425|ENSG00000177425	ENST00000551712|ENST00000328827	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.063176	.|0.64402	.|D	.|0.000006	T|.	0.74854|.	0.3771|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72537|.	-0.4263|.	3|.	.|.	.|.	.|.	-11.6622|-11.6622	18.588|18.588	0.91197|0.91197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	129|184	.|.	.|.	A|Q	-|-	2|1	0|0	PAWR|PAWR	78539085|78539085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.625000|6.625000	0.74248|0.74248	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.363	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		A	80014954	G	A	80014954	4	1	154	1	0	0	0	0	0	1	0	0	11477	1328	46	3	492	3	PAWR	12	80014954	Nonsense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	1423821	80014954	53836941	37	10816											
FRY	10129	broad.mit.edu	37	chr13	32735289	32735289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaattctaggggtgagaGaaagccaaaaatagatcttt	15	12	9	5	0	3	3	0	1	3	2	3	4	3	3	1	2	1	0	1	2	6	6			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:32735289G>A	ENST00000380250.3	+	17	2289	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	598						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGGGTGAGAGAAAGCCAAAA	0.358																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(1792-1794)aGa>aAa		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							139	126	130					13																	32735289		1852	4090	5942	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32735289G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1793G>A	13.37:g.32735289G>A	ENSP00000369600:p.Arg598Lys					FRY_uc010tdw.2_Non-coding_Transcript	p.R598K	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	16	2289	+		Lung SC(185;0.0271)	598					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1793G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474684	0.96291	.	.	ENSG00000073910	ENST00000380250	T	0.24723	1.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.84433	2.695	0.80722	D	1	P	0.51933	0.949	P	0.55577	0.779	T	0.46091	-0.9216	10	0.17832	T	0.49	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	598	Q5TBA9	FRY_HUMAN	K	598	ENSP00000369600:R598K	ENSP00000369600:R598K	R	+	2	0	FRY	31633289	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	AGA		0.358	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32735289	G	A	32735289	3	1	154	1	0	0	0	0	1	0	0	0	6063	942	33	3	1859	3	FRY	13	32735289	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		32735289	82434589	38	10817											
FARP1	10160	broad.mit.edu	37	chr13	99042246	99042246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggaattcctgatggcCagtcgggatttctgcaagtc	8	12	11	10	1	1	1	0	1	1	0	4	3	2	3	3	3	1	1	3	3	2	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:99042246C>T	ENST00000319562.6	+	10	1156	c.891C>T	c.(889-891)gcC>gcT	p.A297A	FARP1_ENST00000595437.1_Silent_p.A297A|FARP1_ENST00000376586.2_Silent_p.A297A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	297	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTGATGGCCAGTCGGGATT	0.443																																						uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(889-891)gcC>gcT		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							124	125	125					13																	99042246		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99042246C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.891C>T	13.37:g.99042246C>T						FARP1_uc001vnj.3_Silent_p.A297A	p.A297A	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		9	1130	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		297			FERM.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.891C>T	CCDS9487.1																																																																																				0.443	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		T	99042246	C	T	99042246	2	4	154	1	0	0	0	0	0	0	0	1	5676	581	21	3		3	FARP1	13	99042246	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	66306957	99042246	16127632	39	10818											
KIAA1409	57578	broad.mit.edu	37	chr14	94041533	94041533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaactggcagggaaccttGcatctcgaagggtaattatt	11	11	12	7	1	1	1	0	1	1	0	2	3	1	2	1	3	3	3	1	3	5	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr14:94041533G>C	ENST00000393151.2	+	17	2200	c.2200G>C	c.(2200-2202)Gca>Cca	p.A734P	UNC79_ENST00000555664.1_Missense_Mutation_p.A734P|UNC79_ENST00000256339.4_Missense_Mutation_p.A557P|UNC79_ENST00000553484.1_Missense_Mutation_p.A734P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	734					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGGAACCTTGCATCTCGAAG	0.373																																						uc001ybv.1																			0		p.V557I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1669-1671)Gca>Cca		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							124	121	122					14																	94041533		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94041533G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2200G>C	14.37:g.94041533G>C	ENSP00000376858:p.Ala734Pro					UNC79_uc001ybs.1_Missense_Mutation_p.A557P	p.A557P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			13	1752	+			734					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1669G>C		.	.	.	.	.	.	.	.	.	.	G	22.5	4.303725	0.81136	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19394	2.16;2.16;2.15;2.16	5.07	4.15	0.48705	.	0.152917	0.42548	D	0.000684	T	0.21145	0.0509	N	0.08118	0	0.44771	D	0.997775	D	0.63880	0.993	P	0.58210	0.835	T	0.10941	-1.0608	10	0.30854	T	0.27	-7.5174	14.8942	0.70630	0.0:0.0:0.8555:0.1445	.	734	C9JQL1	.	P	557;734;734;734;734	ENSP00000256339:A557P;ENSP00000450868:A734P;ENSP00000451360:A734P;ENSP00000376858:A734P	ENSP00000256339:A557P	A	+	1	0	KIAA1409	93111286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	1.199000	0.43173	0.655000	0.94253	GCA		0.373	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94041533	G	C	94041533	3	2	154	1	0	0	0	0	1	0	0	0	8230	1319	46	5	1723	5	KIAA1409	14	94041533	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		94041533	13308007	40	10819											
CHD2	1106	broad.mit.edu	37	chr15	93567832	93567834	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcacccccttctcagaaatCtcctcacgattccaagtcac																										TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr15:93567832_93567834delCTC	ENST00000394196.4	+	39	6452_6454	c.5384_5386delCTC	c.(5383-5388)tctcct>tct	p.P1796del		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1796					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTCAGAAATCTCCTCACGATTC	0.468																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5383-5388)tctcct>tct		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567832_93567834delCTC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5384_5386delCTC	15.37:g.93567835_93567837delCTC	ENSP00000377747:p.Pro1796del						p.P1796del	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	5959_5961	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1796					C6G482|Q96IP5	In_Frame_Del	DEL	ENST00000394196.4	37	c.5384_5386delCTC	CCDS10374.2																																																																																				0.468	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		-	93567834	CTC	-	93567832	7	5	154	1	0	1	0	1	0	0	0	0	3325	913	32	0	5538	0	CHD2	15	93567832	In_Frame_Del	DEL	CTC	TCGA-19-2619-01A-01D-1495-08		93567832	8963560	41	10820											
UBFD1	56061	broad.mit.edu	37	chr16	23570883	23570883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccagtggggccaagatCatggtggttggctccaccat	8	9	14	10	0	1	2	1	1	0	1	2	2	2	2	4	5	0	2	4	5	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr16:23570883C>T	ENST00000395878.3	+	3	831	c.450C>T	c.(448-450)atC>atT	p.I150I	EARS2_ENST00000564501.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|UBFD1_ENST00000567212.1_Silent_p.I141I|UBFD1_ENST00000219638.4_Silent_p.I374I|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Silent_p.I150I|EARS2_ENST00000563459.1_5'Flank|EARS2_ENST00000449606.1_5'Flank	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	150	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCCAAGATCATGGTGGTTG	0.502																																					Melanoma(22;290 1069 22358 48158)	uc002dlv.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(448-450)atC>atT		Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.							58	57	58					16																	23570883		1854	4089	5943	SO:0001819	synonymous_variant	56061							g.chr16:23570883C>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.450C>T	16.37:g.23570883C>T						EARS2_uc002dls.4_5'Flank|EARS2_uc002dlt.4_5'Flank|EARS2_uc002dlu.3_5'Flank	p.I150I	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	2	652	+			150			Ubiquitin-like.		A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.450C>T	CCDS10613.2																																																																																				0.502	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		T	23570883	C	T	23570883	2	4	154	1	0	0	0	0	0	0	0	1	16881	816	29	3		3	UBFD1	16	23570883	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08		23570883	66783870	42	10821											
RNMTL1	55178	broad.mit.edu	37	chr17	695048	695048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagtcaagattggctGcctcatgttgaggttcagag	9	10	14	8	0	3	3	3	1	0	2	3	4	3	4	2	3	2	3	2	3	1	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:695048G>A	ENST00000304478.4	+	4	1108	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGATTGGCTGCCTCATGTTG	0.552																																						uc002frw.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1000-1002)ctG>ctA		Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.							65	66	65					17																	695048		2203	4300	6503	SO:0001819	synonymous_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:695048G>A	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1002G>A	17.37:g.695048G>A							p.L334L	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	3	1108	+			334						Silent	SNP	ENST00000304478.4	37	c.1002G>A	CCDS10997.1																																																																																				0.552	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146		A	695048	G	A	695048	2	1	154	1	0	0	0	0	0	0	0	1	13507	1306	46	3		3	RNMTL1	17	695048	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		695048	80500162	43	10822											
ALDH3A1	218	broad.mit.edu	37	chr17	19641725	19641725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggcggtgagagaaagtctCgaagctcttcttgccatggt	8	10	14	9	3	3	2	0	1	3	1	4	4	3	2	1	3	2	1	1	3	2	2	rs113168621		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:19641725C>T	ENST00000457500.2	-	9	1587	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E420K|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E356K|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.E347K|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E420K	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	420					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GAGAAAGTCTCGAAGCTCTTC	0.612																																						uc002gwk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1609-1611)Gag>Aag		Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	NADH(DB00157)						64	67	66					17																	19641725		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19641725C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1258G>A	17.37:g.19641725C>T	ENSP00000411821:p.Glu420Lys					ALDH3A1_uc010cqu.3_Missense_Mutation_p.E420K|ALDH3A1_uc010vzd.2_Missense_Mutation_p.E420K|ALDH3A1_uc002gwj.3_Missense_Mutation_p.E420K|ALDH3A1_uc010cqv.3_Missense_Mutation_p.E419K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E347K	p.E537K			P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	7	1872	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		420					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.1609G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273512	0.59649	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844	T;D;T;T	0.84944	-1.13;-1.92;-1.13;-1.13	4.56	3.57	0.40892	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.217990	0.44483	D	0.000450	T	0.69305	0.3096	N	0.13371	0.34	0.48341	D	0.999637	B;D;B	0.53151	0.422;0.958;0.422	B;B;B	0.35971	0.029;0.215;0.029	T	0.76138	-0.3069	10	0.66056	D	0.02	-23.9589	11.9274	0.52827	0.0:0.913:0.0:0.087	.	420;537;420	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	K	420;356;478;420;420;347	ENSP00000225740:E420K;ENSP00000378923:E356K;ENSP00000388469:E420K;ENSP00000411821:E420K	ENSP00000225740:E420K	E	-	1	0	ALDH3A1	19582317	0.876000	0.30132	0.998000	0.56505	0.811000	0.45836	1.491000	0.35583	2.091000	0.63221	0.462000	0.41574	GAG		0.612	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		T	19641725	C	T	19641725	3	4	154	1	0	0	0	0	1	0	0	0	497	893	31	2	111	2	ALDH3A1	17	19641725	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	18946677	19641725	61553485	44	10823											
GAS2L2	246176	broad.mit.edu	37	chr17	34072169	34072169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcctgtggtctctccGgggccgaatcctgggtctca	4	10	13	14	2	3	0	2	0	2	0	7	1	5	0	4	5	0	0	4	5	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:34072169G>A	ENST00000254466.6	-	6	2374	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R767W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	783					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTCTCTCCGGGGCCGAATC	0.612																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2347-2349)Cgg>Tgg		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							85	90	88					17																	34072169		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072169G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2347C>T	17.37:g.34072169G>A	ENSP00000254466:p.Arg783Trp						p.R783W	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	2375	-		Ovarian(249;0.17)	783					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2347C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073668	0.76415	.	.	ENSG00000132139	ENST00000254466	T	0.56444	0.46	4.69	3.69	0.42338	.	0.178045	0.37348	N	0.002131	T	0.61887	0.2383	L	0.36672	1.1	0.49483	D	0.999791	D	0.89917	1.0	D	0.91635	0.999	T	0.65158	-0.6236	10	0.87932	D	0	-25.3201	12.8355	0.57771	0.0:0.0:0.8356:0.1644	.	783	Q8NHY3	GA2L2_HUMAN	W	783	ENSP00000254466:R783W	ENSP00000254466:R783W	R	-	1	2	GAS2L2	31096282	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.901000	0.56303	1.167000	0.42706	0.561000	0.74099	CGG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		A	34072169	G	A	34072169	3	1	154	1	0	0	0	0	1	0	0	0	6247	1115	39	2	299	2	GAS2L2	17	34072169	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	14430444	34072169	47123041	45	10824											
USH1G	124590	broad.mit.edu	37	chr17	72915620	72915620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacggcccccaagatcttCtttcggggccccagtgggac	6	8	11	16	2	3	1	1	0	2	1	4	2	3	2	4	4	0	0	4	4	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:72915620C>T	ENST00000319642.1	-	2	1493	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	437	SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCAAGATCTTCTTTCGGGGCC	0.682																																						uc002jme.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(1309-1311)aaG>aaA		Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.							24	27	26					17																	72915620		2198	4277	6475	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915620C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1311G>A	17.37:g.72915620C>T						USH1G_uc010wro.1_Silent_p.K334K	p.K437K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			1	1494	-	all_lung(278;0.172)|Lung NSC(278;0.207)		437			SAM.		Q8N251	Silent	SNP	ENST00000319642.1	37	c.1311G>A	CCDS32725.1																																																																																				0.682	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		T	72915620	C	T	72915620	2	4	154	1	0	0	0	0	0	0	0	1	17032	912	32	3		3	USH1G	17	72915620	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	38843451	72915620	8279590	46	10825											
INO80C	125476	broad.mit.edu	37	chr18	33060423	33060423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgatgcttaccacaaaGttgggatccttaaatggcaa	12	11	8	10	1	0	0	0	0	0	0	2	2	1	1	3	2	2	3	3	2	5	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:33060423G>A	ENST00000334598.7	-	2	377	c.261C>T	c.(259-261)aaC>aaT	p.N87N	INO80C_ENST00000441607.2_Silent_p.N123N|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000586489.1_Silent_p.N32N|INO80C_ENST00000592173.1_Silent_p.N87N|RP11-322E11.6_ENST00000589258.1_Intron	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	87					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						TTACCACAAAGTTGGGATCCT	0.483																																						uc010dmt.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						c.(367-369)aaC>aaT		Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.							165	147	154					18																	33060423		2203	4300	6503	SO:0001819	synonymous_variant	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33060423G>A		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"INO80 complex subunits"	26994	protein-coding gene	gene with protein product	"IES6 homolog (S. cerevisiae)"		"chromosome 18 open reading frame 37"	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.261C>T	18.37:g.33060423G>A						INO80C_uc002kyw.1_Silent_p.N87N|INO80C_uc002kyx.4_Silent_p.N32N|INO80C_uc002kyy.4_Silent_p.N87N	p.N123N	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN			3	486	-			87					B4DUI4|E9PCS7|Q86WR1|Q8N994	Silent	SNP	ENST00000334598.7	37	c.369C>T	CCDS11914.1																																																																																				0.483	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281		A	33060423	G	A	33060423	2	1	154	1	0	0	0	0	0	0	0	1	7748	1020	36	3		3	INO80C	18	33060423	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		33060423	45016825	47	10826											
SERPINB4	6318	broad.mit.edu	37	chr18	61310407	61310407	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacatgatatgttgcAgctttttctgtggtgttctc	6	18	9	8	0	3	2	1	2	2	0	4	2	3	2	0	1	2	4	0	1	1	5	rs572013661		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:61310407A>T	ENST00000341074.5	-	3	325	c.210T>A	c.(208-210)gcT>gcA	p.A70A	SERPINB4_ENST00000356424.6_Silent_p.A70A	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	70					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GATATGTTGCAGCTTTTTCTG	0.403													A|||	1	0.000199681	0	0	5008	,	,		22007	0.001		0	False		,,,				2504	0					uc002ljf.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(208-210)gcT>gcA		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							119	108	112					18																	61310407		2203	4300	6503	SO:0001819	synonymous_variant	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61310407A>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.210T>A	18.37:g.61310407A>T						SERPINB3_uc002lje.3_Silent_p.A70A|SERPINB3_uc002ljg.3_Intron	p.A70A	NM_002974	NP_002965	P29508	SPB3_HUMAN			2	296	-			70					A8K847	Silent	SNP	ENST00000341074.5	37	c.210T>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	A	4.783	0.145589	0.09134	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.94	-3.28	0.05033	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	.	5.1289	0.14899	0.3984:0.1777:0.4238:0.0	.	.	.	.	Q	72	.	.	L	-	2	0	SERPINB4	59461387	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.341000	0.19909	-0.741000	0.04797	0.416000	0.27883	CTG		0.403	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		T	61310407	A	T	61310407	2	4	154	1	0	0	0	0	0	0	0	1	14103	175	7	5		5	SERPINB4	18	61310407	Silent	SNP	A	TCGA-19-2619-01A-01D-1495-08	28249984	61310407	16766841	48	10827											
CNDP1	84735	broad.mit.edu	37	chr18	72223637	72223637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttctcctcaccctcccCgcccccggcgctgttagaga	5	9	8	19	3	2	1	1	0	1	1	4	2	3	1	6	1	0	3	6	1	1	2	rs559481897		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:72223637C>T	ENST00000358821.3	+	2	317	c.89C>T	c.(88-90)cCg>cTg	p.P30L	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	30						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCACCCTCCCCGCCCCCGGCG	0.537																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.3																			0		p.S29F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(88-90)cCg>cTg		Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.							70	68	69					18																	72223637		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72223637C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.89C>T	18.37:g.72223637C>T	ENSP00000351682:p.Pro30Leu						p.P30L	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	1	300	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	30					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.89C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327357	0.24080	.	.	ENSG00000150656	ENST00000358821	T	0.13538	2.58	5.81	0.862	0.19056	.	0.572198	0.20281	N	0.095453	T	0.08403	0.0209	L	0.38175	1.15	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.30851	-0.9964	10	0.34782	T	0.22	-4.436	2.5673	0.04786	0.2163:0.478:0.1058:0.1999	.	30	Q96KN2	CNDP1_HUMAN	L	30	ENSP00000351682:P30L	ENSP00000351682:P30L	P	+	2	0	CNDP1	70374617	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.410000	0.21098	-0.359000	0.08150	-2.511000	0.00188	CCG		0.537	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		T	72223637	C	T	72223637	3	4	154	1	0	0	0	0	1	0	0	0	3593	652	23	2	95	2	CNDP1	18	72223637	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	10913230	72223637	5853611	49	10828											
SAFB2	9667	broad.mit.edu	37	chr19	5587916	5587916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctagccgcgcctgcGtccatggcaccctgccaggc	4	6	12	19	4	0	0	0	0	0	0	2	0	2	0	6	3	3	2	6	3	1	1	rs372249286		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:5587916G>A	ENST00000252542.4	-	19	2865	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	867	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCGCGCCTGCGTCCATGGCAC	0.672																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.3																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2599-2601)gaC>gaT		Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.		A		0,4404		0,0,2202	16	19	18		2601	-1.1	0	19		18	1,8593		0,1,4296	no	coding-synonymous	SAFB2	NM_014649.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		867/954	5587916	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5587916G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2601C>T	19.37:g.5587916G>A							p.D867D	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	18	2813	-			867			Gly-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.2601C>T	CCDS32879.1																																																																																				0.672	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		A	5587916	G	A	5587916	2	1	154	1	0	0	0	0	0	0	0	1	13807	1136	40	1		1	SAFB2	19	5587916	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		5587916	53541067	50	10829											
FBN3	84467	broad.mit.edu	37	chr19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacccagcagtgttgaCgcaacgcccgttgggacaga	12	5	13	11	3	0	3	0	1	0	2	0	5	0	4	2	1	2	4	2	1	2	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:8190851C>T	ENST00000600128.1	-	22	3070	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	FBN3_ENST00000601739.1_Missense_Mutation_p.V886I|FBN3_ENST00000270509.2_Missense_Mutation_p.V886I			Q75N90	FBN3_HUMAN	fibrillin 3	886	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGTTGACGCAACGCCCG	0.637																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2656-2658)Gtc>Atc		Homo sapiens fibrillin 3 (FBN3), mRNA.							68	58	61					19																	8190851		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190851C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2656G>A	19.37:g.8190851C>T	ENSP00000470498:p.Val886Ile						p.V886I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			20	2673	-			886			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2656G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	5.198	0.221976	0.09863	.	.	ENSG00000142449	ENST00000270509	D	0.90324	-2.65	4.0	-3.64	0.04515	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.309128	0.28694	N	0.014452	T	0.77123	0.4084	N	0.12961	0.28	0.29881	N	0.826019	B	0.09022	0.002	B	0.04013	0.001	T	0.61247	-0.7101	10	0.30078	T	0.28	.	8.8603	0.35253	0.0:0.4287:0.1847:0.3866	.	886	Q75N90	FBN3_HUMAN	I	886	ENSP00000270509:V886I	ENSP00000270509:V886I	V	-	1	0	FBN3	8096851	0.433000	0.25562	0.079000	0.20413	0.001000	0.01503	-0.127000	0.10547	-1.022000	0.03346	-2.349000	0.00243	GTC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8190851	C	T	8190851	3	4	154	1	0	0	0	0	1	0	0	0	5704	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	2602935	8190851	50938132	51	10830											
KIAA0892	23383	broad.mit.edu	37	chr19	19459728	19459728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctggagaggatcaacccgGaccacagcttccctgtcagg	9	7	12	13	1	2	1	2	0	0	1	3	4	3	3	3	4	3	2	3	4	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:19459728G>A	ENST00000392313.6	+	14	1518	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	MAU2_ENST00000262815.8_Missense_Mutation_p.D447N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	447					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GATCAACCCGGACCACAGCTT	0.617																																						uc002nmk.4																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1339-1341)Gac>Aac		Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.							101	94	96					19																	19459728		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19459728G>A	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1339G>A	19.37:g.19459728G>A	ENSP00000376127:p.Asp447Asn					MAU2_uc002nml.4_Missense_Mutation_p.D52N|MAU2_uc010ecd.3_Missense_Mutation_p.D52N|MAU2_uc010ece.3_Missense_Mutation_p.D23N	p.D447N	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN			13	1378	+			447					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1339G>A	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351084	0.61183	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.63417	-0.04;-0.04	4.55	4.55	0.56014	.	0.101555	0.64402	D	0.000003	T	0.57784	0.2077	N	0.03608	-0.345	0.80722	D	1	D;D;P	0.60575	0.988;0.988;0.845	D;P;B	0.77557	0.99;0.908;0.425	T	0.62263	-0.6891	10	0.23302	T	0.38	.	16.2331	0.82357	0.0:0.0:1.0:0.0	.	23;52;447	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	N	447	ENSP00000376127:D447N;ENSP00000262815:D447N	ENSP00000262815:D447N	D	+	1	0	MAU2	19320728	1.000000	0.71417	0.924000	0.36721	0.910000	0.53928	8.898000	0.92538	2.244000	0.73946	0.563000	0.77884	GAC		0.617	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		A	19459728	G	A	19459728	3	1	154	1	0	0	0	0	1	0	0	0	8196	1174	41	3	1393	3	KIAA0892	19	19459728	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11268877	19459728	39669255	52	10831											
MYH14	79784	broad.mit.edu	37	chr19	50792885	50792885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggctggtgaagagaggCggaggcagctggccaagcag	11	4	19	7	1	0	3	0	2	0	1	0	5	0	4	1	6	2	4	1	6	2	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:50792885C>T	ENST00000596571.1	+	32	4822	c.4822C>T	c.(4822-4824)Cgg>Tgg	p.R1608W	MYH14_ENST00000425460.1_Missense_Mutation_p.R1616W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1649W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1649W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1641W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1616W|MYH14_ENST00000440075.2_Missense_Mutation_p.R1649W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1608					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAAGAGAGGCGGAGGCAGCT	0.612																																						uc010enu.1																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4945-4947)Cgg>Tgg		Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.							38	50	46					19																	50792885		2203	4297	6500	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50792885C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4822C>T	19.37:g.50792885C>T	ENSP00000472819:p.Arg1608Trp					MYH14_uc002prq.1_Missense_Mutation_p.R1616W|MYH14_uc002prr.1_Missense_Mutation_p.R1608W|MYH14_uc010ycb.2_5'UTR|MYH14_uc002prs.1_5'UTR	p.R1649W	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	34	4992	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1608					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4945C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629783	0.67015	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	3.95	2.82	0.32997	Myosin tail (1);	.	.	.	.	D	0.90903	0.7141	M	0.83774	2.66	0.44852	D	0.997863	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.969;0.961	D	0.90703	0.4622	9	0.87932	D	0	.	8.5447	0.33415	0.3422:0.6578:0.0:0.0	.	1649;1608;1616	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1649;1641;1616;1392;1649	ENSP00000406273:R1649W;ENSP00000366169:R1641W;ENSP00000407879:R1616W;ENSP00000262269:R1649W	ENSP00000262269:R1649W	R	+	1	2	MYH14	55484697	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.220000	0.58567	2.219000	0.72066	0.491000	0.48974	CGG		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50792885	C	T	50792885	3	4	154	1	0	0	0	0	1	0	0	0	10033	759	27	1	5079	1	MYH14	19	50792885	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	31333157	50792885	8336098	53	10832											
RASSF2	9770	broad.mit.edu	37	chr20	4776462	4776462	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgtctctcctcactcaccCctgagcccccaggttacagc	6	8	6	21	1	3	1	2	1	1	0	5	1	4	1	6	1	3	1	6	1	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr20:4776462C>T	ENST00000379400.3	-	5	481	c.286G>A	c.(286-288)Gga>Aga	p.G96R	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Splice_Site_p.G96R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	96					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTCACTCACCCCTGAGCCCCC	0.597																																					Melanoma(158;1891 3343 50738)	uc002wld.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.e4+1		Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.							118	112	114					20																	4776462		2203	4300	6503	SO:0001630	splice_region_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776462C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.287+1G>A	20.37:g.4776462C>T						RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Splice_Site_p.G96_splice	p.G96_splice	NM_170774	NP_739580	P50749	RASF2_HUMAN			4	341	-			96					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.287_splice	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219298	0.39201	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10477	2.87;2.87	5.13	4.2	0.49525	.	0.058255	0.64402	D	0.000001	T	0.08758	0.0217	L	0.39566	1.225	0.46356	D	0.999005	B	0.19331	0.035	B	0.19148	0.024	T	0.19451	-1.0305	10	0.21540	T	0.41	.	8.3379	0.32225	0.0:0.7607:0.156:0.0832	.	96	P50749	RASF2_HUMAN	R	96	ENSP00000368710:G96R;ENSP00000368684:G96R	ENSP00000368684:G96R	G	-	1	0	RASSF2	4724462	0.995000	0.38212	1.000000	0.80357	0.951000	0.60555	2.924000	0.48876	1.396000	0.46663	0.563000	0.77884	GGA		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	Missense_Mutation	T	4776462	C	T	4776462	5	4	154	1	0	0	0	0	0	0	1	0	13086	637	22	3	726	3	RASSF2	20	4776462	Splice_Site	SNP	C	TCGA-19-2619-01A-01D-1495-08		4776462	58249058	54	10833											
TXNRD2	10587	broad.mit.edu	37	chr22	19865620	19865620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgggacttacttgatccCcagagcaaatccttgagtaa	11	10	8	12	1	0	3	0	2	0	1	3	4	2	4	4	1	2	2	4	1	3	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:19865620C>T	ENST00000400521.1	-	16	1444	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	TXNRD2_ENST00000542719.1_Missense_Mutation_p.G450R|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G479R|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G450R|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G479R	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	480					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TACTTGATCCCCAGAGCAAAT	0.597																																						uc021wlj.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1438-1440)Ggg>Agg		Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.							44	50	48					22																	19865620		2094	4232	6326	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19865620C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1438G>A	22.37:g.19865620C>T	ENSP00000383365:p.Gly480Arg					TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.G479R|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Missense_Mutation_p.G130R	p.G480R	NM_006440		Q9NNW7	TRXR2_HUMAN			15	1471	-	Colorectal(54;0.0993)		480					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1438G>A	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145136	0.57044	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	5.07	5.07	0.68467	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.166918	0.52532	D	0.000077	D	0.95417	0.8512	M	0.69358	2.11	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.956;0.956;0.976	D	0.95802	0.8834	10	0.87932	D	0	-14.3095	17.6014	0.88026	0.0:1.0:0.0:0.0	.	480;479;457	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	R	450;480;480;457;384;479;479;450	ENSP00000383362:G450R;ENSP00000383365:G480R;ENSP00000383369:G457R;ENSP00000383363:G479R;ENSP00000439314:G479R;ENSP00000439570:G450R	ENSP00000383362:G450R	G	-	1	0	TXNRD2	18245620	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.990000	0.56965	2.530000	0.85305	0.462000	0.41574	GGG		0.597	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		T	19865620	C	T	19865620	3	4	154	1	0	0	0	0	1	0	0	0	16805	623	22	3	144	3	TXNRD2	22	19865620	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		19865620	31438946	55	10834											
SMTN	6525	broad.mit.edu	37	chr22	31492853	31492853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggctctgctgtcagcactGttaccaagactgagcggctc	8	10	11	12	1	2	2	1	1	1	1	3	2	2	2	1	2	4	5	1	2	2	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:31492853G>A	ENST00000347557.2	+	14	2214	c.1996G>A	c.(1996-1998)Gtt>Att	p.V666I	SMTN_ENST00000358743.1_Missense_Mutation_p.V666I|SMTN_ENST00000333137.7_Missense_Mutation_p.V666I|SMTN_ENST00000404574.1_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	666					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGTCAGCACTGTTACCAAGAC	0.682																																						uc003ajl.2																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(1996-1998)Gtt>Att		Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.							55	58	57					22																	31492853		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31492853G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1996G>A	22.37:g.31492853G>A	ENSP00000328635:p.Val666Ile					SMTN_uc003ajk.2_Missense_Mutation_p.V666I|SMTN_uc003ajm.2_Missense_Mutation_p.V666I|SMTN_uc011ale.2_Missense_Mutation_p.V751I|SMTN_uc011alf.2_Missense_Mutation_p.V722I|SMTN_uc003ajn.2_Missense_Mutation_p.V689I|SMTN_uc011alg.2_Missense_Mutation_p.V122I|SMTN_uc003ajo.2_Intron|SMTN_uc011alh.1_Non-coding_Transcript|SMTN_uc010gwe.2_Intron	p.V666I	NM_006932	NP_008863	P53814	SMTN_HUMAN			13	2237	+			666					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1996G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572801	0.45798	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.68765	0.02;-0.35;-0.35	4.51	3.48	0.39840	.	0.532611	0.14154	N	0.337803	T	0.55146	0.1902	L	0.31207	0.915	0.80722	D	1	B;B;B;B;B;B	0.27765	0.093;0.093;0.188;0.017;0.115;0.051	B;B;B;B;B;B	0.28709	0.043;0.043;0.043;0.027;0.027;0.093	T	0.58578	-0.7612	10	0.56958	D	0.05	-11.4626	12.2728	0.54716	0.0836:0.0:0.9164:0.0	.	722;751;689;666;666;666	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	I	666;666;666;664;689	ENSP00000351593:V666I;ENSP00000328635:V666I;ENSP00000329532:V666I	ENSP00000329393:V664I	V	+	1	0	SMTN	29822853	0.619000	0.27059	0.643000	0.29450	0.985000	0.73830	0.826000	0.27407	2.237000	0.73441	0.456000	0.33151	GTT		0.682	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		A	31492853	G	A	31492853	3	1	154	1	0	0	0	0	1	0	0	0	14814	1377	48	3	2046	3	SMTN	22	31492853	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11627233	31492853	19811713	56	10835											
NHS	4810	broad.mit.edu	37	chrX	17745612	17745612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggtcgaatcctccacCgtcccttgcaattacaccaa	11	9	6	15	2	0	1	0	1	0	0	4	2	3	1	5	1	2	1	5	1	4	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:17745612C>T	ENST00000380060.3	+	6	3661	c.3323C>T	c.(3322-3324)cCg>cTg	p.P1108L	NHS_ENST00000398097.3_Missense_Mutation_p.P952L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1129					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1108L(1)|p.P952L(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCCTCCACCGTCCCTTGCA	0.408													C|||	1	0.000264901	0	0	3775	,	,		15500	0		0	False		,,,				2504	0.001					uc011mix.2																			2	Substitution - Missense(2)	p.P1108L(1)|p.P952L(1)	lung(2)	breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3385-3387)cCg>cTg		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							134	128	130					X																	17745612		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745612C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3323C>T	X.37:g.17745612C>T	ENSP00000369400:p.Pro1108Leu					NHS_uc004cxx.3_Missense_Mutation_p.P1108L|NHS_uc004cxy.3_Missense_Mutation_p.P952L|NHS_uc004cxz.3_Missense_Mutation_p.P931L|NHS_uc004cya.3_Missense_Mutation_p.P831L	p.P1129L	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN			6	3724	+	Hepatocellular(33;0.183)		1108					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3386C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482264	0.44147	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44881	0.91;0.91	5.94	5.94	0.96194	.	0.321380	0.37304	N	0.002145	T	0.58949	0.2158	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;P	0.76494	0.999;0.999;0.999;0.948	P;P;P;B	0.59825	0.864;0.864;0.864;0.24	T	0.59473	-0.7448	10	0.66056	D	0.02	-15.1033	19.3108	0.94187	0.0:1.0:0.0:0.0	.	1129;950;952;1108	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	1108;952;950	ENSP00000369400:P1108L;ENSP00000381170:P952L	ENSP00000369397:P950L	P	+	2	0	NHS	17655533	0.796000	0.28864	0.633000	0.29310	0.296000	0.27459	3.591000	0.53986	2.513000	0.84729	0.544000	0.68410	CCG		0.408	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		T	17745612	C	T	17745612	3	4	154	1	0	0	0	0	1	0	0	0	10411	652	23	2	3450	2	NHS	23	17745612	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		17745612	137524948	57	10836											
TIMM17B	10245	broad.mit.edu	37	chrX	48751096	48751096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggggtcctccaggaatggGggcgctggagaagggagact	8	6	19	8	1	0	2	0	0	0	2	2	5	2	3	2	7	0	1	2	7	2	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:48751096G>A	ENST00000376582.3	-	7	583	c.435C>T	c.(433-435)ccC>ccT	p.P145P	TIMM17B_ENST00000465150.2_Silent_p.P195P|TIMM17B_ENST00000495490.2_Silent_p.P165P|TIMM17B_ENST00000396779.3_Silent_p.P195P|TIMM17B_ENST00000472645.1_5'UTR	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	145					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCAGGAATGGGGGCGCTGGAG	0.617																																						uc004dla.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(583-585)ccC>ccT		Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast) (TIMM17B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							25	27	26					X																	48751096		2201	4300	6501	SO:0001819	synonymous_variant	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48751096G>A	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.435C>T	X.37:g.48751096G>A						TIMM17B_uc004dlc.2_Silent_p.P145P	p.P195P	NM_001167947	NP_001161419	O60830	TI17B_HUMAN			7	734	-			145					A8K2E2|J3KPV3|Q9UJV0	Silent	SNP	ENST00000376582.3	37	c.585C>T	CCDS14308.1																																																																																				0.617	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		A	48751096	G	A	48751096	2	1	154	1	0	0	0	0	0	0	0	1	15906	1219	43	3		3	TIMM17B	23	48751096	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	31005484	48751096	106519464	58	10837											
PCDH11X	27328	broad.mit.edu	37	chrX	91132985	91132985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttctatgtcccagaaaaCcttccaaggcatggtacagt	13	10	7	11	0	1	1	0	0	1	1	3	1	3	1	3	2	3	2	3	2	6	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:91132985C>A	ENST00000373094.1	+	2	2591	c.1746C>A	c.(1744-1746)aaC>aaA	p.N582K	PCDH11X_ENST00000406881.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N582K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N582K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N582K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N582K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCCAGAAAACCTTCCAAGGC	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1744-1746)aaC>aaA		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							102	90	94					X																	91132985		2203	4299	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132985C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1746C>A	X.37:g.91132985C>A	ENSP00000362186:p.Asn582Lys					PCDH11X_uc004efl.2_Missense_Mutation_p.N582K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N582K|PCDH11X_uc004efm.2_Missense_Mutation_p.N582K|PCDH11X_uc004efn.2_Missense_Mutation_p.N582K|PCDH11X_uc004efo.2_Missense_Mutation_p.N582K|PCDH11X_uc004efh.2_Missense_Mutation_p.N582K|PCDH11X_uc004efj.1_Missense_Mutation_p.N582K	p.N582K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2591	+			582			Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1746C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021837	0.35701	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.36	4.49	0.54785	Cadherin (3);Cadherin-like (1);	0.046719	0.85682	D	0.000000	T	0.75649	0.3878	M	0.93507	3.425	0.40202	D	0.977525	P;P;P;P;P;P;P;P	0.50156	0.891;0.932;0.891;0.891;0.891;0.911;0.891;0.891	P;P;P;P;P;P;P;P	0.59357	0.69;0.856;0.69;0.69;0.69;0.794;0.69;0.69	T	0.81616	-0.0852	10	0.87932	D	0	.	12.028	0.53382	0.0:0.9146:0.0:0.0854	.	582;582;582;582;582;582;582;582	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	582	ENSP00000378746:N582K;ENSP00000362186:N582K;ENSP00000362189:N582K;ENSP00000355040:N582K;ENSP00000362180:N582K;ENSP00000423762:N582K;ENSP00000355105:N582K;ENSP00000384758:N582K;ENSP00000298274:N582K	ENSP00000298274:N582K	N	+	3	2	PCDH11X	91019641	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	1.160000	0.31761	1.012000	0.39366	0.422000	0.28245	AAC		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91132985	C	A	91132985	3	1	154	1	0	0	0	0	1	0	0	0	11508	506	18	5	1752	5	PCDH11X	23	91132985	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	42381889	91132985	64137575	59	10838											
DOCK11	139818	broad.mit.edu	37	chrX	117722099	117722099	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttttccctgctataGattgtattacttcttcatat	7	22	4	8	0	2	1	1	0	1	1	3	1	3	1	1	0	2	3	1	0	5	11			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:117722099G>T	ENST00000276202.7	+	17	1858		c.e17-1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCCTGCTATAGATTGTATTAC	0.318																																						uc004eqp.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.e17-1		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.							91	88	89					X																	117722099		2201	4291	6492	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117722099G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1796-1G>T	X.37:g.117722099G>T						DOCK11_uc004eqq.2_Splice_Site_p.N365_splice	p.N599_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			17	1859	+			599					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37	c.1796_splice	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918996	0.73098	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3906	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117606127	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	9.395000	0.97266	2.569000	0.86673	0.594000	0.82650	.		0.318	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Intron	T	117722099	G	T	117722099	5	4	154	1	0	0	0	0	0	0	1	0	4686	956	33	5	1861	5	DOCK11	23	117722099	Splice_Site	SNP	G	TCGA-19-2619-01A-01D-1495-08	26589114	117722099	37548461	60	10839											
RNF113A	7737	broad.mit.edu	37	chrX	119004909	119004909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccatgcttgtaatctgaaCggtcatggaggaatttgcag	11	11	11	8	1	2	1	1	1	1	0	2	3	2	3	1	3	3	3	1	3	3	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:119004909C>T	ENST00000371442.2	-	1	882	c.668G>A	c.(667-669)cGt>cAt	p.R223H	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	223							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GTAATCTGAACGGTCATGGAG	0.522																																						uc004esb.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(667-669)cGt>cAt		Homo sapiens ring finger protein 113A (RNF113A), mRNA.							104	96	99					X																	119004909		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119004909C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.668G>A	X.37:g.119004909C>T	ENSP00000360497:p.Arg223His					NDUFA1_uc004esc.4_5'Flank	p.R223H	NM_006978	NP_008909	O15541	R113A_HUMAN			0	883	-			223					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.668G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392289	0.83011	.	.	ENSG00000125352	ENST00000371442	T	0.44083	0.93	5.56	4.7	0.59300	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.92459	3.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76748	-0.2845	10	0.87932	D	0	-4.7758	11.5046	0.50459	0.0:0.9112:0.0:0.0888	.	223	O15541	R113A_HUMAN	H	223	ENSP00000360497:R223H	ENSP00000360497:R223H	R	-	2	0	RNF113A	118888937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.821000	0.55700	1.134000	0.42165	0.600000	0.82982	CGT		0.522	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		T	119004909	C	T	119004909	3	4	154	1	0	0	0	0	1	0	0	0	13427	536	19	1	367	1	RNF113A	23	119004909	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	1282810	119004909	36265651	61	10840											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220576	130220576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggatgcactactttctgatCcagtggaaacctctgctgaa	11	11	9	10	0	2	2	0	2	2	0	3	4	3	4	2	2	4	2	2	2	3	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:130220576C>T	ENST00000276211.5	+	11	1768	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P463S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P339S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	475					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACTTTCTGATCCAGTGGAAAC	0.478																																						uc004evz.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1423-1425)Cca>Tca		Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.							112	97	102					X																	130220576		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220576C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1423C>T	X.37:g.130220576C>T	ENSP00000276211:p.Pro475Ser					ARHGAP36_uc004ewa.3_Missense_Mutation_p.P463S|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P444S|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P339S	p.P475S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			10	1768	+			475					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1423C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751171	0.49257	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10099	2.91;2.91;2.93;2.92	4.32	4.32	0.51571	.	0.000000	0.47455	D	0.000227	T	0.13500	0.0327	N	0.08118	0	0.32608	N	0.524968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.17198	-1.0377	10	0.16896	T	0.51	.	13.6058	0.62046	0.0:1.0:0.0:0.0	.	444;463;475	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	475;463;444;339	ENSP00000276211:P475S;ENSP00000359960:P463S;ENSP00000408515:P444S;ENSP00000359959:P339S	ENSP00000276211:P475S	P	+	1	0	ARHGAP36	130048257	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.941000	0.56607	2.378000	0.81104	0.594000	0.82650	CCA		0.478	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		T	130220576	C	T	130220576	3	4	154	1	0	0	0	0	1	0	0	0	883	855	30	3	1461	3	ARHGAP36	23	130220576	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	11215667	130220576	25049984	62	10841											
CTAG2	30848	broad.mit.edu	37	chrX	153881755	153881755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccatcagcatcgcccGtcgaaccccctgtgccctgg	5	7	11	18	3	1	0	1	0	0	0	3	1	1	0	5	2	3	1	5	2	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:153881755G>A	ENST00000247306.4	-	1	98	c.35C>T	c.(34-36)aCg>aTg	p.T12M	CTAG2_ENST00000369585.3_Missense_Mutation_p.T12M	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	12	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCATCGCCCGTCGAACCCCC	0.706																																						uc004fmi.2																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(34-36)aCg>aTg		Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.							4	10	9					X																	153881755		1077	3605	4682	SO:0001583	missense	30848					centrosome		g.chrX:153881755G>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.35C>T	X.37:g.153881755G>A	ENSP00000247306:p.Thr12Met					CTAG2_uc004fmh.2_Missense_Mutation_p.T12M	p.T12M	NM_020994	NP_066274	O75638	CTAG2_HUMAN			0	99	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		12			Gly-rich.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.35C>T	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	g	7.680	0.688908	0.14973	.	.	ENSG00000126890	ENST00000247306;ENST00000369585	T;T	0.30182	1.54;1.62	1.51	-0.466	0.12153	.	.	.	.	.	T	0.12860	0.0312	N	0.19112	0.55	0.09310	N	1	B;P	0.43314	0.234;0.803	B;B	0.28784	0.026;0.094	T	0.14783	-1.0460	9	0.87932	D	0	.	4.1954	0.10441	0.1727:0.2359:0.5914:0.0	.	12;12	O75638;O75638-2	CTAG2_HUMAN;.	M	12	ENSP00000247306:T12M;ENSP00000358598:T12M	ENSP00000247306:T12M	T	-	2	0	CTAG2	153534949	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.099000	0.31013	-0.235000	0.09767	0.459000	0.35465	ACG		0.706	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		A	153881755	G	A	153881755	3	1	154	1	0	0	0	0	1	0	0	0	3991	1145	40	1	744	1	CTAG2	23	153881755	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	23661179	153881755	1388805	63	10842											
PTCHD2	57540	broad.mit.edu	37	chr1	11562051	11562051	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctactcctactgctcGccccccagctcgctcatgac	5	9	7	20	2	1	1	1	1	0	0	5	1	3	1	5	1	4	4	5	1	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:11562051G>A	ENST00000294484.6	+	2	1140	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	PTCHD2_ENST00000389575.3_Silent_p.S334S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	334					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTACTGCTCGCCCCCCAGCT	0.627																																						uc001ash.4																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1000-1002)tcG>tcA		Homo sapiens patched domain containing 2 (PTCHD2), mRNA.							37	41	40					1																	11562051		1961	4131	6092	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562051G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1002G>A	1.37:g.11562051G>A						PTCHD2_uc001asi.1_Silent_p.S334S	p.S334S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	1	1140	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	334					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1002G>A	CCDS41247.1																																																																																				0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11562051	G	A	11562051	2	1	155	1	0	0	0	0	0	0	0	1	12733	1074	38	1		1	PTCHD2	1	11562051	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08		11562051	237688570	1	10843											
LRRC8B	23507	broad.mit.edu	37	chr1	90048973	90048973	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcagaaggacatcatttAtagagtatatctgaaacaga	17	9	10	5	0	2	4	1	1	1	3	2	6	2	6	0	2	2	2	0	2	6	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:90048973A>G	ENST00000330947.2	+	5	1124	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.Y255C|LRRC8B_ENST00000439853.1_Missense_Mutation_p.Y255C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	255					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACATCATTTATAGAGTATAT	0.383																																						uc001dni.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(763-765)tAt>tGt		Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.							92	90	91					1																	90048973		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048973A>G	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.764A>G	1.37:g.90048973A>G	ENSP00000332674:p.Tyr255Cys					LRRC8B_uc001dnh.3_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.3_Missense_Mutation_p.Y255C	p.Y255C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	1271	+		all_lung(203;0.17)	255					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.764A>G	CCDS724.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230578	0.58777	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.52754	0.65;0.65;0.65	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.59582	0.2204	M	0.74647	2.275	0.58432	D	0.999992	D	0.76494	0.999	P	0.62813	0.907	T	0.66444	-0.5922	10	0.87932	D	0	.	15.5356	0.76001	1.0:0.0:0.0:0.0	.	255	Q6P9F7	LRC8B_HUMAN	C	255	ENSP00000332674:Y255C;ENSP00000350933:Y255C;ENSP00000400704:Y255C	ENSP00000332674:Y255C	Y	+	2	0	LRRC8B	89821561	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.273000	0.95719	2.125000	0.65367	0.533000	0.62120	TAT		0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		G	90048973	A	G	90048973	3	3	155	1	0	0	0	0	1	0	0	0	9022	449	16	4	766	4	LRRC8B	1	90048973	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	78486922	90048973	159201648	2	10844											
GPR61	83873	broad.mit.edu	37	chr1	110086040	110086040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcctggccatcctctcGgtgtcagccatcaatgtgga	7	10	11	13	1	4	0	3	0	1	0	6	1	5	1	4	3	2	0	4	3	1	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:110086040G>A	ENST00000527748.1	+	2	1079	c.396G>A	c.(394-396)tcG>tcA	p.S132S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCATCCTCTCGGTGTCAGCCA	0.607																																						uc021orh.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(394-396)tcG>tcA		Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.							111	98	102					1																	110086040		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086040G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.396G>A	1.37:g.110086040G>A						GPR61_uc001dxy.2_Silent_p.S132S	p.S132S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	0	396	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	132					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.396G>A	CCDS801.1																																																																																				0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			A	110086040	G	A	110086040	2	1	155	1	0	0	0	0	0	0	0	1	6702	1103	39	2		2	GPR61	1	110086040	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	20037067	110086040	139164581	3	10845											
TTF2	8458	broad.mit.edu	37	chr1	117618058	117618058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggacccctcaacaaggaGtacacgaactgggaggctaa	13	4	14	10	1	1	0	1	0	0	0	1	4	1	3	2	5	3	2	2	5	5	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:117618058G>A	ENST00000369466.4	+	5	896	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	284					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAACAAGGAGTACACGAACT	0.522																																						uc001egy.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(850-852)gaG>gaA		Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.							76	83	80					1																	117618058		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117618058G>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.852G>A	1.37:g.117618058G>A						TTF2_uc001egx.1_Silent_p.E284E	p.E284E	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	872	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	284					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.852G>A	CCDS892.1																																																																																				0.522	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			A	117618058	G	A	117618058	2	1	155	1	0	0	0	0	0	0	0	1	16716	1020	36	3		3	TTF2	1	117618058	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	7532018	117618058	131632563	4	10846											
FLG	2312	broad.mit.edu	37	chr1	152283519	152283519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaacctctcggagtcGtctgagtgtctctcactgtc	7	11	9	14	2	4	2	1	1	3	1	8	3	4	3	2	1	1	0	2	1	1	0	rs545397624		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:152283519G>A	ENST00000368799.1	-	3	3878	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1281	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCGGAGTCGTCTGAGTGTC	0.552									Ichthyosis				T|||	1	0.000199681	0	0	5008	,	,		20557	0		0.001	False		,,,				2504	0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3841-3843)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.							221	213	215					1																	152283519		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283519G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3843C>T	1.37:g.152283519G>A						AK056431_uc001ezv.3_5'Flank	p.D1281D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3879	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1281			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3843C>T	CCDS30860.1																																																																																				0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283519	G	A	152283519	2	1	155	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152283519	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	34665461	152283519	96967102	5	10847											
HMCN1	83872	broad.mit.edu	37	chr1	186050515	186050515	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatttctatctaatggaCgaattctgcaggtaaaagta	16	13	7	5	1	3	0	0	0	3	0	3	2	3	1	0	2	1	3	0	2	8	7	rs142475663		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186050515C>T	ENST00000271588.4	+	56	9005	c.8776C>T	c.(8776-8778)Cga>Tga	p.R2926*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R2926*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2926	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTAATGGACGAATTCTGCA	0.338																																						uc001grq.1																			0		p.R2926Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8776-8778)Cga>Tga		Homo sapiens hemicentin 1 (HMCN1), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	82	83	83		8776	4.7	1	1	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	HMCN1	NM_031935.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		2926/5636	186050515	2,13004	2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186050515C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8776C>T	1.37:g.186050515C>T	ENSP00000271588:p.Arg2926*					MIR548F1_uc021pgf.1_Intron	p.R2926*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			55	9005	+			2926			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.8776C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	51	18.420080	0.99904	2.27E-4	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.86	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2974	0.60305	0.8656:0.1344:0.0:0.0	.	.	.	.	X	2926	.	ENSP00000271588:R2926X	R	+	1	2	HMCN1	184317138	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	4.558000	0.60789	1.044000	0.40200	-0.266000	0.10368	CGA		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186050515	C	T	186050515	4	4	155	1	0	0	0	0	0	1	0	0	7220	528	19	1	8998	1	HMCN1	1	186050515	Nonsense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	33766996	186050515	63200106	6	10848											
HMCN1	83872	broad.mit.edu	37	chr1	186083185	186083185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactgtattggaatgcatcGctgaaggtgtgccaactcca	11	10	10	10	1	0	1	0	1	0	0	2	2	1	2	2	2	4	3	2	2	5	2	rs138190200	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186083185G>A	ENST00000271588.4	+	73	11435	c.11206G>A	c.(11206-11208)Gct>Act	p.A3736T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3736T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3736	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A3736T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAATGCATCGCTGAAGGTGT	0.408													G|||	5	0.000998403	0.003	0.0014	5008	,	,		15692	0		0	False		,,,				2504	0					uc001grq.1																			1	Substitution - Missense(1)	p.A3736T(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11206-11208)Gct>Act		Homo sapiens hemicentin 1 (HMCN1), mRNA.		G	THR/ALA	11,4395	17.9+/-39.9	0,11,2192	111	121	117		11206	2.2	0.3	1	dbSNP_134	117	0,8600		0,0,4300	yes	missense	HMCN1	NM_031935.2	58	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	3736/5636	186083185	11,12995	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186083185G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11206G>A	1.37:g.186083185G>A	ENSP00000271588:p.Ala3736Thr					MIR548F1_uc021pgf.1_Intron	p.A3736T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			72	11435	+			3736			Ig-like C2-type 36.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11206G>A	CCDS30956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.783	0.928807	0.18131	0.002497	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.08	2.21	0.28008	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.308230	0.36482	N	0.002564	T	0.60051	0.2239	M	0.86178	2.8	0.20196	N	0.999929	P	0.38711	0.643	B	0.29353	0.101	T	0.51236	-0.8731	10	0.22109	T	0.4	.	8.2261	0.31570	0.3036:0.0:0.6964:0.0	.	3736	Q96RW7	HMCN1_HUMAN	T	3736	ENSP00000271588:A3736T;ENSP00000356462:A3736T	ENSP00000271588:A3736T	A	+	1	0	HMCN1	184349808	1.000000	0.71417	0.295000	0.24960	0.174000	0.22865	5.210000	0.65214	0.271000	0.22005	-0.136000	0.14681	GCT		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186083185	G	A	186083185	3	1	155	1	0	0	0	0	1	0	0	0	7220	1087	38	1	11496	1	HMCN1	1	186083185	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	32670	186083185	63167436	7	10849											
NUAK2	81788	broad.mit.edu	37	chr1	205280831	205280831	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctttaagtgcccactgtAccttcatggatggcaatgat	10	12	9	10	0	1	1	1	1	0	0	1	2	1	2	2	2	3	3	2	2	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:205280831A>G	ENST00000367157.3	-	2	479		c.e2+1			NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCCACTGTACCTTCATGGA	0.438																																						uc001hce.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.e2+1		Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.							347	246	280					1																	205280831		2203	4300	6503	SO:0001630	splice_region_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205280831A>G	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.352+1T>C	1.37:g.205280831A>G						NUAK2_uc009xbj.1_5'Flank	p.V118_splice	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	479	-	Breast(84;0.186)		118			Protein kinase.			Splice_Site	SNP	ENST00000367157.3	37	c.352_splice	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374851	0.61735	.	.	ENSG00000163545	ENST00000367157	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6188	0.76790	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUAK2	203547454	1.000000	0.71417	0.978000	0.43139	0.509000	0.34042	9.309000	0.96252	2.169000	0.68431	0.379000	0.24179	.		0.438	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952	Intron	G	205280831	A	G	205280831	5	3	155	1	0	0	0	0	0	0	1	0	10713	405	14	4	1556	4	NUAK2	1	205280831	Splice_Site	SNP	A	TCGA-19-2620-01A-01D-1495-08	19197646	205280831	43969790	8	10850											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209954760	209954760	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgtaagctgcagcActgtcgagaagagctgaacc	10	7	12	12	2	0	3	0	1	0	2	1	4	0	3	2	0	7	5	2	0	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:209954760A>T	ENST00000367024.1	+	16	2036	c.1520A>T	c.(1519-1521)cAc>cTc	p.H507L	TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.H487L|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.H507L|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.H487L|TRAF3IP3_ENST00000467830.1_3'UTR			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	507						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGCTGCAGCACTGTCGAGAA	0.512																																						uc001hho.3																			0		p.R506*(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1519-1521)cAc>cTc		Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.							119	114	116					1																	209954760		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209954760A>T		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1520A>T	1.37:g.209954760A>T	ENSP00000355991:p.His507Leu					TRAF3IP3_uc001hhn.3_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.H507L	p.H507L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	15	1940	+			507					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.1520A>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908669	0.52439	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.29	4.14	0.48551	.	0.232966	0.35320	N	0.003290	T	0.65186	0.2667	L	0.44542	1.39	0.24682	N	0.993357	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.59484	-0.7446	10	0.72032	D	0.01	-0.7502	9.1765	0.37116	0.8379:0.0:0.0:0.1621	.	507;487	Q9Y228;Q9Y228-2	T3JAM_HUMAN;.	L	507;487;507;487	ENSP00000355992:H507L;ENSP00000355993:H487L;ENSP00000355991:H507L;ENSP00000010338:H487L	ENSP00000010338:H487L	H	+	2	0	TRAF3IP3	208021383	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.207000	0.51106	0.830000	0.34757	0.533000	0.62120	CAC		0.512	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			T	209954760	A	T	209954760	3	4	155	1	0	0	0	0	1	0	0	0	16439	159	6	5	1574	5	TRAF3IP3	1	209954760	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	4673929	209954760	39295861	9	10851											
LPIN1	23175	broad.mit.edu	37	chr2	11943091	11943091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgccaagccatcaaacGcaggccacctccctcttctg	9	7	7	18	1	3	0	1	0	2	0	4	0	4	0	5	1	4	2	5	1	2	1	rs375865167		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:11943091G>A	ENST00000256720.2	+	14	1930	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T	LPIN1_ENST00000396097.1_Missense_Mutation_p.A343T|LPIN1_ENST00000449576.2_Missense_Mutation_p.A698T|LPIN1_ENST00000404113.2_Missense_Mutation_p.A114T|LPIN1_ENST00000425416.2_Missense_Mutation_p.A619T|LPIN1_ENST00000396099.1_Missense_Mutation_p.A655T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	613					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCATCAAACGCAGGCCACCT	0.532																																						uc010yjm.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2092-2094)Gca>Aca		Homo sapiens lipin 1 (LPIN1), mRNA.		G	THR/ALA	0,4406		0,0,2203	177	152	160		1837	-5.7	0	2		160	2,8598	2.2+/-6.3	0,2,4298	no	missense	LPIN1	NM_145693.1	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	613/891	11943091	2,13004	2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11943091G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1837G>A	2.37:g.11943091G>A	ENSP00000256720:p.Ala613Thr					LPIN1_uc010yjn.2_Missense_Mutation_p.A613T|LPIN1_uc002rbt.3_Missense_Mutation_p.A613T|LPIN1_uc010yjo.2_Missense_Mutation_p.A114T	p.A698T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	15	2145	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		613			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2092G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161584	0.01673	0.0	2.33E-4	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80480	-1.38;-1.37;-1.37;-1.37;-1.21;-0.37;0.55	4.56	-5.7	0.02421	.	0.613558	0.17891	N	0.158537	T	0.46908	0.1417	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.52124	-0.8617	10	0.07325	T	0.83	-3.7431	1.9602	0.03385	0.2688:0.077:0.3183:0.3358	.	114;698;613	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	T	698;655;619;613;343;114;140	ENSP00000397908:A698T;ENSP00000379406:A655T;ENSP00000401522:A619T;ENSP00000256720:A613T;ENSP00000379404:A343T;ENSP00000386120:A114T;ENSP00000413714:A140T	ENSP00000256720:A613T	A	+	1	0	LPIN1	11860542	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.810000	0.01729	-1.160000	0.02804	-2.048000	0.00412	GCA		0.532	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11943091	G	A	11943091	3	1	155	1	0	0	0	0	1	0	0	0	8918	1087	38	1	1887	1	LPIN1	2	11943091	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		11943091	231256282	10	10852											
IL1RL1	9173	broad.mit.edu	37	chr2	102959595	102959595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaacaaaaattacagactTtggtgaaccaagaattcaac	18	9	7	7	0	1	3	1	1	0	2	1	4	1	4	1	2	4	0	1	2	8	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:102959595T>C	ENST00000233954.1	+	7	1053	c.782T>C	c.(781-783)tTt>tCt	p.F261S	IL1RL1_ENST00000409584.1_Missense_Mutation_p.F247S|IL1RL1_ENST00000404917.2_Missense_Mutation_p.F144S|IL1RL1_ENST00000311734.2_Missense_Mutation_p.F261S	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	261	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTACAGACTTTGGTGAACCA	0.423																																						uc002tbu.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(781-783)tTt>tCt		Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.							94	98	97					2																	102959595		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102959595T>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.782T>C	2.37:g.102959595T>C	ENSP00000233954:p.Phe261Ser					IL1RL1_uc010ywa.2_Missense_Mutation_p.F144S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.F261S	p.F261S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			6	1053	+			261			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.782T>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863742	0.32884	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.95	2.42	0.29668	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.300510	0.04740	N	0.422651	T	0.17066	0.0410	M	0.75447	2.3	0.09310	N	0.999999	P;P;B	0.43826	0.714;0.818;0.357	B;B;B	0.43990	0.438;0.311;0.186	T	0.24119	-1.0169	10	0.22109	T	0.4	.	5.0451	0.14479	0.0:0.0971:0.1838:0.7191	.	144;261;261	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	S	261;144;261;247	ENSP00000233954:F261S;ENSP00000384822:F144S;ENSP00000310371:F261S;ENSP00000386618:F247S	ENSP00000233954:F261S	F	+	2	0	IL1RL1	102326027	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.316000	0.19469	0.916000	0.36871	0.477000	0.44152	TTT		0.423	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		C	102959595	T	C	102959595	3	2	155	1	0	0	0	0	1	0	0	0	7663	1841	64	4	804	4	IL1RL1	2	102959595	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	91016504	102959595	140239778	11	10853											
LRP2	4036	broad.mit.edu	37	chr2	170066149	170066149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacatgcagtgcgtttcGtcctggaagttaagaaaaga	13	10	10	8	2	0	2	0	0	0	2	3	3	2	3	2	1	2	3	2	1	4	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:170066149G>A	ENST00000263816.3	-	38	6568	c.6283C>T	c.(6283-6285)Cga>Tga	p.R2095*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2095					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGTGCGTTTCGTCCTGGAAGT	0.418																																						uc002ues.3																			0		p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6283-6285)Cga>Tga		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						68	62	64					2																	170066149		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170066149G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6283C>T	2.37:g.170066149G>A	ENSP00000263816:p.Arg2095*						p.R2095*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6496	-			2095					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.6283C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	48	14.011527	0.99775	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	10.4058	0.44256	0.0696:0.0:0.7964:0.134	.	.	.	.	X	2095	.	ENSP00000263816:R2095X	R	-	1	2	LRP2	169774395	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	7.857000	0.86963	1.415000	0.47037	0.655000	0.94253	CGA		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170066149	G	A	170066149	4	1	155	1	0	0	0	0	0	1	0	0	8956	1153	40	1	7852	1	LRP2	2	170066149	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	67106554	170066149	73133224	12	10854											
DNAH7	56171	broad.mit.edu	37	chr2	196765215	196765215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgctactgtccgaaagaGagcctatgggtaggtagaaa	13	9	12	7	1	0	2	0	0	0	2	1	4	1	2	2	2	3	3	2	2	6	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:196765215G>C	ENST00000312428.6	-	28	4439	c.4339C>G	c.(4339-4341)Ctc>Gtc	p.L1447V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1447	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCGAAAGAGAGCCTATGGG	0.418																																						uc002utj.4																			0		p.L1447L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4339-4341)Ctc>Gtc		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							110	105	106					2																	196765215		1902	4126	6028	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765215G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4339C>G	2.37:g.196765215G>C	ENSP00000311273:p.Leu1447Val						p.L1447V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			27	4440	-			1447			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4339C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638433	0.67130	.	.	ENSG00000118997	ENST00000312428	T	0.40476	1.03	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87613	0.2505	10	0.87932	D	0	.	18.1387	0.89631	0.0:0.0:1.0:0.0	.	1447	Q8WXX0	DYH7_HUMAN	V	1447	ENSP00000311273:L1447V	ENSP00000311273:L1447V	L	-	1	0	DNAH7	196473460	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	5.437000	0.66544	2.626000	0.88956	0.557000	0.71058	CTC		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		C	196765215	G	C	196765215	3	2	155	1	0	0	0	0	1	0	0	0	4606	942	33	5	7887	5	DNAH7	2	196765215	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	26699066	196765215	46434158	13	10855											
AOX1	316	broad.mit.edu	37	chr2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccttttgggctcggCgccaggtgggaaagtggagt	6	10	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	1	2	5	1	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473																																						uc002uvx.3																			1	Substitution - Missense(1)	p.A507V(2)|p.A507A(1)	lung(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1519-1521)gCg>gTg		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94	91	92					2																	201478598		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478598C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1520C>T	2.37:g.201478598C>T	ENSP00000363832:p.Ala507Val					AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	p.A507V	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1621	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1520C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675041	0.67928	.	.	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.33	5.33	0.75918	CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.45744	1.44	0.80722	D	1	P	0.37708	0.606	B	0.43155	0.41	T	0.03212	-1.1060	10	0.49607	T	0.09	-45.5491	19.2079	0.93742	0.0:1.0:0.0:0.0	.	507	Q06278	ADO_HUMAN	V	507	ENSP00000363832:A507V	ENSP00000363832:A507V	A	+	2	0	AOX1	201186843	0.999000	0.42202	0.681000	0.30009	0.039000	0.13416	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	GCG		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201478598	C	T	201478598	3	4	155	1	0	0	0	0	1	0	0	0	729	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	4713383	201478598	41720775	14	10856											
FAM126B	285172	broad.mit.edu	37	chr2	201881771	201881771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattactctgtctgtctcgGctaactgtaagccgtaaata	10	13	7	11	2	3	0	0	0	3	0	4	0	3	0	2	1	3	3	2	1	6	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201881771G>A	ENST00000418596.3	-	5	463	c.276C>T	c.(274-276)agC>agT	p.S92S		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	92						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCTGTCTCGGCTAACTGTAA	0.388																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(274-276)agC>agT		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.							97	95	96					2																	201881771		2203	4300	6503	SO:0001819	synonymous_variant	285172					intracellular		g.chr2:201881771G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.276C>T	2.37:g.201881771G>A						FAM126B_uc002uwu.3_Silent_p.S10S|FAM126B_uc002uwv.3_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	p.S92S	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			4	464	-			92					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.276C>T	CCDS2335.1																																																																																				0.388	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		A	201881771	G	A	201881771	2	1	155	1	0	0	0	0	0	0	0	1	5430	1194	42	3		3	FAM126B	2	201881771	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	403173	201881771	41317602	15	10857											
TRPM8	79054	broad.mit.edu	37	chr2	234835206	234835206	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcgggcagccaggctCagcatgaggaacagaaggaa	12	6	13	10	1	1	2	1	1	0	1	3	4	2	4	2	4	3	3	2	4	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:234835206C>A	ENST00000324695.4	+	2	64	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	8					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGCCAGGCTCAGCATGAGGA	0.522																																						uc002vvh.3																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(22-24)ctC>ctA		Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	Menthol(DB00825)						135	123	127					2																	234835206		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234835206C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.24C>A	2.37:g.234835206C>A						TRPM8_uc010fyj.3_5'UTR	p.L8L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	1	64	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	8					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.24C>A	CCDS33407.1																																																																																				0.522	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		A	234835206	C	A	234835206	2	1	155	1	0	0	0	0	0	0	0	1	16589	813	29	5		5	TRPM8	2	234835206	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	32953435	234835206	8364167	16	10858											
OR5H2	79310	broad.mit.edu	37	chr3	98001924	98001924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaacttcacatccccatgTacttttttcttgggagttta	9	16	5	11	0	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	3	8			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98001924T>A	ENST00000355273.2	+	1	193	c.193T>A	c.(193-195)Tac>Aac	p.Y65N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCCCCATGTACTTTTTTCT	0.408																																						uc003dsj.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(193-195)Tac>Aac		Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.							312	293	299					3																	98001924		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001924T>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.193T>A	3.37:g.98001924T>A	ENSP00000347418:p.Tyr65Asn						p.Y65N	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			0	193	+			65					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.193T>A	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800533	0.31869	.	.	ENSG00000197938	ENST00000355273	T	0.15603	2.41	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36101	U	0.002786	T	0.54224	0.1845	H	0.98111	4.15	0.40608	D	0.981647	D	0.89917	1.0	D	0.91635	0.999	T	0.68062	-0.5508	10	0.87932	D	0	.	9.7235	0.40317	0.0:0.0:0.0:1.0	.	65	Q8NGV7	OR5H2_HUMAN	N	65	ENSP00000347418:Y65N	ENSP00000347418:Y65N	Y	+	1	0	OR5H2	99484614	1.000000	0.71417	0.873000	0.34254	0.029000	0.11900	5.506000	0.66993	1.458000	0.47871	0.443000	0.29094	TAC		0.408	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			A	98001924	T	A	98001924	3	1	155	1	0	0	0	0	1	0	0	0	11162	1638	57	5	195	5	OR5H2	3	98001924	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08		98001924	100020506	17	10859											
OR5H2	79310	broad.mit.edu	37	chr3	98002428	98002428	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttttcacaatcctaaaaAagaagtctgttagaggcgta	14	12	7	8	1	3	2	1	0	2	2	4	2	4	2	1	1	0	2	1	1	7	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98002428A>C	ENST00000355273.2	+	1	697	c.697A>C	c.(697-699)Aag>Cag	p.K233Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCTAAAAAAGAAGTCTGT	0.363																																						uc003dsj.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(697-699)Aag>Cag		Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.							83	85	84					3																	98002428		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002428A>C		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.697A>C	3.37:g.98002428A>C	ENSP00000347418:p.Lys233Gln						p.K233Q	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			0	697	+			233					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.697A>C	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	7.157	0.584875	0.13749	.	.	ENSG00000197938	ENST00000355273	T	0.00115	8.71	3.03	0.428	0.16499	GPCR, rhodopsin-like superfamily (1);	0.347490	0.20667	U	0.087917	T	0.00109	0.0003	L	0.32530	0.975	0.09310	N	1	B	0.20368	0.044	B	0.24974	0.057	T	0.36359	-0.9751	10	0.66056	D	0.02	.	4.2137	0.10524	0.6712:0.2063:0.1225:0.0	.	233	Q8NGV7	OR5H2_HUMAN	Q	233	ENSP00000347418:K233Q	ENSP00000347418:K233Q	K	+	1	0	OR5H2	99485118	0.941000	0.31946	0.009000	0.14445	0.013000	0.08279	5.923000	0.70045	-0.015000	0.14150	-0.811000	0.03165	AAG		0.363	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			C	98002428	A	C	98002428	3	2	155	1	0	0	0	0	1	0	0	0	11162	15	1	5	699	5	OR5H2	3	98002428	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	504	98002428	100020002	18	10860											
SLCO2A1	6578	broad.mit.edu	37	chr3	133692615	133692615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaatcagacgtggacGgtgcacccggctgccaaagt	10	6	13	12	3	1	1	1	0	0	1	1	3	1	2	3	3	3	2	3	3	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:133692615G>A	ENST00000310926.4	-	3	562	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R97C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	97			R -> H (in PHOAR2). {ECO:0000269|PubMed:22553128}.		lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGACGTGGACGGTGCACCCGG	0.572																																						uc003eqa.4																			0		p.R97H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(289-291)Cgt>Tgt		Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.							91	79	83					3																	133692615		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133692615G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.289C>T	3.37:g.133692615G>A	ENSP00000311291:p.Arg97Cys					SLCO2A1_uc011blv.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR	p.R97C	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			2	563	-			97					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.289C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	g	31	5.092072	0.94149	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.55052	0.54;0.54	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055982	0.85682	D	0.000000	T	0.80949	0.4722	M	0.94101	3.495	0.42095	D	0.991313	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86089	0.1549	10	0.87932	D	0	.	19.3794	0.94525	0.0:0.0:1.0:0.0	.	97;97;97	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	C	97	ENSP00000311291:R97C;ENSP00000418893:R97C	ENSP00000311291:R97C	R	-	1	0	SLCO2A1	135175305	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.368000	0.79567	2.553000	0.86117	0.651000	0.88453	CGT		0.572	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		A	133692615	G	A	133692615	3	1	155	1	0	0	0	0	1	0	0	0	14726	1116	39	2	1690	2	SLCO2A1	3	133692615	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	35690187	133692615	64329815	19	10861											
SR140	23350	broad.mit.edu	37	chr3	142735741	142735741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagccatcttcaagatttgCagatcaaaaaaatcctccaa	17	10	4	10	0	3	2	2	0	1	2	5	2	5	2	3	0	2	1	3	0	6	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:142735741C>T	ENST00000473835.2	+	6	584	c.494C>T	c.(493-495)gCa>gTa	p.A165V	U2SURP_ENST00000493598.2_Missense_Mutation_p.A165V|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	165					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCAAGATTTGCAGATCAAAAA	0.303																																						uc003evh.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(493-495)gCa>gTa		Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.							74	67	69					3																	142735741		1800	4078	5878	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142735741C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.494C>T	3.37:g.142735741C>T	ENSP00000418563:p.Ala165Val					U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.A165V|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.A165V	p.A165V	NM_001080415	NP_001073884	O15042	SR140_HUMAN			5	593	+			165					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.494C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455546	0.43634	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.09817	2.94;2.96	5.5	5.5	0.81552	.	0.267608	0.44097	D	0.000483	T	0.05456	0.0144	N	0.01446	-0.86	0.80722	D	1	B;B;B	0.19200	0.002;0.034;0.02	B;B;B	0.10450	0.002;0.005;0.002	T	0.49890	-0.8891	10	0.28530	T	0.3	-8.6252	19.7767	0.96398	0.0:1.0:0.0:0.0	.	165;165;165	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	V	165	ENSP00000418563:A165V;ENSP00000422011:A165V	ENSP00000322376:A165V	A	+	2	0	U2SURP	144218431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.996000	0.57009	2.748000	0.94277	0.655000	0.94253	GCA		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		T	142735741	C	T	142735741	3	4	155	1	0	0	0	0	1	0	0	0	15130	710	25	3	516	3	SR140	3	142735741	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	9043126	142735741	55286689	20	10862											
BCHE	590	broad.mit.edu	37	chr3	165548715	165548715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacttttccattctttGttgcaattatgatgtcatct	7	20	5	9	0	4	2	1	2	3	0	5	2	5	2	1	0	1	2	1	0	2	6			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:165548715G>T	ENST00000264381.3	-	2	273	c.107C>A	c.(106-108)aCa>aAa	p.T36K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	36					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCCATTCTTTGTTGCAATTAT	0.408																																						uc003fem.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(106-108)aCa>aAa		Homo sapiens butyrylcholinesterase (BCHE), mRNA.	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						87	80	82					3																	165548715		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548715G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.107C>A	3.37:g.165548715G>T	ENSP00000264381:p.Thr36Lys					BCHE_uc003fen.4_Intron	p.T36K	NM_000055	NP_000046	P06276	CHLE_HUMAN			1	267	-			36					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.107C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320194	0.41096	.	.	ENSG00000114200	ENST00000264381	D	0.96365	-3.99	5.81	5.81	0.92471	Carboxylesterase, type B (1);	0.108147	0.64402	D	0.000007	D	0.98937	0.9639	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99331	1.0909	10	0.87932	D	0	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	36	P06276	CHLE_HUMAN	K	36	ENSP00000264381:T36K	ENSP00000264381:T36K	T	-	2	0	BCHE	167031409	1.000000	0.71417	0.979000	0.43373	0.044000	0.14063	6.109000	0.71528	2.756000	0.94617	0.655000	0.94253	ACA		0.408	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			T	165548715	G	T	165548715	3	4	155	1	0	0	0	0	1	0	0	0	1358	1377	48	5	1713	5	BCHE	3	165548715	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	22812974	165548715	32473715	21	10863											
GHSR	2693	broad.mit.edu	37	chr3	172165593	172165593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagtccagagcgcaccGcaaactcggtggggcggcac	9	4	15	13	4	0	2	0	1	0	1	2	2	1	2	2	4	3	4	2	4	1	0	rs121917883		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:172165593G>A	ENST00000241256.2	-	1	653	c.611C>T	c.(610-612)gCg>gTg	p.A204V	GHSR_ENST00000427970.1_Missense_Mutation_p.A204V	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	204			A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin). {ECO:0000269|PubMed:16511605}.		actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGCGCACCGCAAACTCGGT	0.622																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	GRCh37	CM061011	GHSR	M	rs121917883	c.(610-612)gCg>gTg		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							51	41	45					3																	172165593		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165593G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.611C>T	3.37:g.172165593G>A	ENSP00000241256:p.Ala204Val					GHSR_uc011bpv.2_Missense_Mutation_p.A204V	p.A204V	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	654	-	Ovarian(172;0.00143)|Breast(254;0.197)		204		A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin).			Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.611C>T	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852867	0.91355	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.41065	1.01;1.01	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.099608	0.64402	D	0.000002	T	0.58192	0.2105	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.47522	-0.9111	10	0.21014	T	0.42	-26.5883	19.4276	0.94749	0.0:0.0:1.0:0.0	.	204;204	Q92847-2;Q92847	.;GHSR_HUMAN	V	204	ENSP00000241256:A204V;ENSP00000395344:A204V	ENSP00000241256:A204V	A	-	2	0	GHSR	173648287	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	9.869000	0.99810	2.601000	0.87937	0.455000	0.32223	GCG		0.622	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		A	172165593	G	A	172165593	3	1	155	1	0	0	0	0	1	0	0	0	6375	1087	38	1	571	1	GHSR	3	172165593	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	6616878	172165593	25856837	22	10864											
CCDC158	339965	broad.mit.edu	37	chr4	77288530	77288530	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatagctccagcagttcGtccatgctggcccaccagct	7	10	9	15	1	0	0	0	0	0	0	3	0	2	0	4	1	5	6	4	1	1	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:77288530G>A	ENST00000388914.3	-	11	1899	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	583										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGCAGTTCGTCCATGCTGG	0.453																																						uc003hkb.4																			0		p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1747-1749)Cga>Tga		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.							103	99	100					4																	77288530		1933	4142	6075	SO:0001587	stop_gained	339965							g.chr4:77288530G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1747C>T	4.37:g.77288530G>A	ENSP00000373566:p.Arg583*						p.R583*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			10	1900	-			583					Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.1747C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	41	8.639627	0.98897	.	.	ENSG00000163749	ENST00000388914	.	.	.	5.95	4.2	0.49525	.	0.091907	0.45606	D	0.000358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1291	0.59371	0.0:0.0:0.7093:0.2907	.	.	.	.	X	583	.	ENSP00000373566:R583X	R	-	1	2	CCDC158	77507554	0.650000	0.27331	0.657000	0.29651	0.903000	0.53119	2.848000	0.48278	0.823000	0.34589	0.563000	0.77884	CGA		0.453	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		A	77288530	G	A	77288530	4	1	155	1	0	0	0	0	0	1	0	0	2790	1153	40	1	1650	1	CCDC158	4	77288530	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		77288530	113865746	23	10865											
SEC31A	22872	broad.mit.edu	37	chr4	83799939	83799939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgcttgtcattctgggCaatcacaacttccttgtctc	8	15	7	11	0	4	0	2	0	2	0	6	0	5	0	1	1	2	3	1	1	3	5	rs375622150		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:83799939C>T	ENST00000395310.2	-	4	528	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	SEC31A_ENST00000355196.2_Missense_Mutation_p.A116T|SEC31A_ENST00000326950.5_Missense_Mutation_p.A116T|SEC31A_ENST00000432794.1_Missense_Mutation_p.A116T|SEC31A_ENST00000448323.1_Missense_Mutation_p.A116T|SEC31A_ENST00000508502.1_Missense_Mutation_p.A116T|SEC31A_ENST00000513858.1_Missense_Mutation_p.A116T|SEC31A_ENST00000508479.1_Missense_Mutation_p.A116T|SEC31A_ENST00000509142.1_Missense_Mutation_p.A116T|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Missense_Mutation_p.A116T|SEC31A_ENST00000505472.1_Missense_Mutation_p.A116T|SEC31A_ENST00000311785.7_Missense_Mutation_p.A116T|SEC31A_ENST00000348405.4_Missense_Mutation_p.A116T|SEC31A_ENST00000500777.2_Missense_Mutation_p.A116T|SEC31A_ENST00000443462.2_Missense_Mutation_p.A111T	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	116					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCATTCTGGGCAATCACAACT	0.398																																						uc003hnh.3																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(346-348)Gcc>Acc		Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.							105	105	105					4																	83799939		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83799939C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.346G>A	4.37:g.83799939C>T	ENSP00000378721:p.Ala116Thr					SEC31A_uc011ccl.2_Missense_Mutation_p.A116T|SEC31A_uc003hnl.3_Missense_Mutation_p.A116T|SEC31A_uc003hng.3_Missense_Mutation_p.A116T|SEC31A_uc011ccm.2_Missense_Mutation_p.A111T|SEC31A_uc003hni.3_Missense_Mutation_p.A116T|SEC31A_uc003hnk.3_Missense_Mutation_p.A116T|SEC31A_uc003hnf.3_Missense_Mutation_p.A116T|SEC31A_uc011ccn.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.3_Missense_Mutation_p.A116T|SEC31A_uc003hnn.2_Missense_Mutation_p.A116T|SEC31A_uc003hno.3_Missense_Mutation_p.A116T	p.A116T	NM_014933	NP_055748	O94979	SC31A_HUMAN			3	526	-		Hepatocellular(203;0.114)	116					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.346G>A	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440268	0.83993	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058;ENST00000514326;ENST00000513323	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62639	1.61;1.61;1.61;1.57;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;0.01;0.14;0.14	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162693	0.53938	D	0.000046	T	0.76278	0.3965	L	0.53780	1.695	0.52099	D	0.999949	B;P;P;P;B;B;P;D;P	0.76494	0.434;0.714;0.775;0.897;0.383;0.198;0.729;0.999;0.781	B;B;B;P;B;B;B;D;B	0.87578	0.223;0.113;0.356;0.656;0.155;0.257;0.395;0.998;0.358	T	0.74000	-0.3805	10	0.41790	T	0.15	-12.5777	19.1738	0.93594	0.0:1.0:0.0:0.0	.	111;116;116;116;116;116;116;116;116	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	T	116;116;116;111;116;116;116;116;116;116;116;116;116;116;116;87;116;116	ENSP00000337602:A116T;ENSP00000426886:A116T;ENSP00000378721:A116T;ENSP00000408027:A111T;ENSP00000426569:A116T;ENSP00000407944:A116T;ENSP00000400926:A116T;ENSP00000325087:A116T;ENSP00000309070:A116T;ENSP00000421633:A116T;ENSP00000421464:A116T;ENSP00000424635:A116T;ENSP00000347329:A116T;ENSP00000424451:A116T;ENSP00000425999:A116T;ENSP00000425056:A87T;ENSP00000425555:A116T;ENSP00000426950:A116T	ENSP00000309070:A116T	A	-	1	0	SEC31A	84018963	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.743000	0.55104	2.764000	0.94973	0.655000	0.94253	GCC		0.398	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83799939	C	T	83799939	3	4	155	1	0	0	0	0	1	0	0	0	13998	710	25	3	3412	3	SEC31A	4	83799939	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	6511409	83799939	107354337	24	10866											
PCDH18	54510	broad.mit.edu	37	chr4	138451923	138451923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagagagactgggtgtcccCctgtcctcagcgattacagt	8	10	12	11	1	1	2	1	0	0	2	3	4	3	2	3	1	2	1	3	1	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:138451923C>T	ENST00000344876.4	-	1	1706	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.R440R|PCDH18_ENST00000507846.1_Silent_p.R220R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGTGTCCCCCTGTCCTCAG	0.373																																						uc003ihe.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1318-1320)agG>agA		Homo sapiens protocadherin 18 (PCDH18), mRNA.							138	136	137					4																	138451923		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451923C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1320G>A	4.37:g.138451923C>T						PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron	p.R440R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			0	1707	-	all_hematologic(180;0.24)		440			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.1320G>A	CCDS34064.1																																																																																				0.373	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		T	138451923	C	T	138451923	2	4	155	1	0	0	0	0	0	0	0	1	11513	622	22	3		3	PCDH18	4	138451923	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	54651984	138451923	52702353	25	10867											
MYO10	4651	broad.mit.edu	37	chr5	16668507	16668507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggtcttccctctccaCgcttgtagacggagacggcg	6	9	12	14	4	2	2	0	0	2	2	4	3	3	2	3	3	0	2	3	3	1	3	rs369799275		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:16668507C>T	ENST00000513610.1	-	40	6408	c.5954G>A	c.(5953-5955)cGt>cAt	p.R1985H	MYO10_ENST00000505695.1_Missense_Mutation_p.R1324H|MYO10_ENST00000515803.1_Missense_Mutation_p.R1324H|MYO10_ENST00000427430.2_Missense_Mutation_p.R1342H|MYO10_ENST00000274203.9_Missense_Mutation_p.R1342H	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1985	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCTCTCCACGCTTGTAGAC	0.547													C|||	1	0.000199681	0	0	5008	,	,		18873	0		0	False		,,,				2504	0.001					uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5953-5955)cGt>cAt		Homo sapiens myosin X (MYO10), mRNA.		C	HIS/ARG	0,4102		0,0,2051	85	86	86		5954	5.1	1	5		86	1,8445		0,1,4222	no	missense	MYO10	NM_012334.2	29	0,1,6273	TT,TC,CC		0.0118,0.0,0.0080	probably-damaging	1985/2059	16668507	1,12547	2051	4223	6274	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668507C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5954G>A	5.37:g.16668507C>T	ENSP00000421280:p.Arg1985His					MYO10_uc011cnb.2_Missense_Mutation_p.R614H|MYO10_uc011cnc.2_Missense_Mutation_p.R864H|MYO10_uc011cnd.2_Missense_Mutation_p.R1342H|MYO10_uc011cne.2_Missense_Mutation_p.R1342H|MYO10_uc010itx.3_Missense_Mutation_p.R1607H	p.R1985H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			39	6422	-			1985			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5954G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797782	0.90538	0.0	1.18E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88201	-2.26;-2.35;-2.27;-2.35;-2.27	5.14	5.14	0.70334	FERM domain (1);	.	.	.	.	D	0.94634	0.8270	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.93433	0.6787	9	0.30078	T	0.28	.	18.621	0.91321	0.0:1.0:0.0:0.0	.	864;1625;1985	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	H	1985;1324;1342;1324;1342	ENSP00000421280:R1985H;ENSP00000425051:R1324H;ENSP00000274203:R1342H;ENSP00000421170:R1324H;ENSP00000391106:R1342H	ENSP00000274203:R1342H	R	-	2	0	MYO10	16721507	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.773000	0.85462	2.390000	0.81377	0.591000	0.81541	CGT		0.547	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16668507	C	T	16668507	3	4	155	1	0	0	0	0	1	0	0	0	10062	536	19	1	230	1	MYO10	5	16668507	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		16668507	164246753	26	10868											
CDH9	1007	broad.mit.edu	37	chr5	26885965	26885965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccgagtcatgattcctGctgtattatctgggggagaa	8	14	11	8	1	2	2	1	1	1	1	4	4	4	2	2	2	1	2	2	2	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:26885965G>A	ENST00000231021.4	-	11	1812	c.1640C>T	c.(1639-1641)gCa>gTa	p.A547V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATGATTCCTGCTGTATTATC	0.318																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1639-1641)gCa>gTa		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							55	57	57					5																	26885965		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885965G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1640C>T	5.37:g.26885965G>A	ENSP00000231021:p.Ala547Val					CDH9_uc011cnv.1_Missense_Mutation_p.A140V	p.A547V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1809	-			547			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1640C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614655	0.87359	.	.	ENSG00000113100	ENST00000231021	T	0.20200	2.09	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	H	0.95114	3.625	0.80722	D	1	P;D	0.57257	0.874;0.979	P;D	0.63283	0.824;0.913	T	0.71596	-0.4545	9	.	.	.	.	18.5999	0.91246	0.0:0.0:1.0:0.0	.	140;547	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	547	ENSP00000231021:A547V	.	A	-	2	0	CDH9	26921722	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.552000	0.60747	2.740000	0.93945	0.563000	0.77884	GCA		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26885965	G	A	26885965	3	1	155	1	0	0	0	0	1	0	0	0	3117	1319	46	3	737	3	CDH9	5	26885965	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10217458	26885965	154029295	27	10869											
ANKHD1	54882	broad.mit.edu	37	chr5	139889605	139889605	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taatatgccttgtttacaggGgagcccacattgatgttcgt	9	14	10	8	1	0	1	0	1	0	0	1	2	0	2	2	2	3	2	2	2	3	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:139889605G>A	ENST00000360839.2	+	22	4097	c.3943G>A	c.(3943-3945)Gga>Aga	p.G1315R	ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site_p.G1315R|ANKHD1_ENST00000297183.6_Splice_Site_p.G1315R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACAGGGGAGCCCACAT	0.393																																						uc003lfs.2																			0				breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57						c.e22-1		Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.							120	115	117					5																	139889605		2203	4300	6503	SO:0001630	splice_region_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139889605G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3942-1G>A	5.37:g.139889605G>A						ANKHD1-EIF4EBP3_uc003lfq.2_Splice_Site_p.R1333_splice|ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1314_splice|ANKHD1-EIF4EBP3_uc003lft.1_Splice_Site_p.R525_splice|ANKHD1-EIF4EBP3_uc003lfu.1_Splice_Site_p.R794_splice|ANKHD1-EIF4EBP3_uc003lfv.1_Splice_Site_p.R391_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R53_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site	p.R1314_splice	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4096	+			1314					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.3942_splice	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770159	0.69992	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.63	5.63	0.86233	Ankyrin repeat-containing domain (4);	0.058745	0.64402	D	0.000002	D	0.84696	0.5529	M	0.74467	2.265	0.80722	D	1	B;P;P;D;D	0.89917	0.193;0.532;0.587;1.0;1.0	B;B;P;D;D	0.77557	0.225;0.437;0.672;0.99;0.99	D	0.84599	0.0671	10	0.56958	D	0.05	.	20.0529	0.97634	0.0:0.0:1.0:0.0	.	526;1315;1334;1315;1315	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	R	1315;1348;1315;1315;849;526;1334;468;1315	ENSP00000354085:G1315R;ENSP00000297183:G1315R;ENSP00000394489:G1334R;ENSP00000405602:G468R;ENSP00000432016:G1315R	ENSP00000432016:G1315R	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139869789	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	7.928000	0.87587	2.814000	0.96858	0.591000	0.81541	GGA		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	Missense_Mutation	A	139889605	G	A	139889605	5	1	155	1	0	0	0	0	0	0	1	0	628	1246	43	3	4135	3	ANKHD1	5	139889605	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	113003640	139889605	41025655	28	10870											
PCDHA4	56144	broad.mit.edu	37	chr5	140188686	140188686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacgcgtgccctggaCgaaacggacgctccgcgcca	10	3	12	16	7	0	0	0	0	0	0	1	3	1	2	3	2	4	2	3	2	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140188686C>T	ENST00000530339.1	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA4_ENST00000356878.4_Silent_p.D638D|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D638D|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1912-1914)gaC>gaT		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							92	92	92					5																	140188686		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188686C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1914C>T	5.37:g.140188686C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2015	+			649			Cadherin 6.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1914C>T	CCDS54916.1																																																																																				0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188686	C	T	140188686	2	4	155	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188686	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	299081	140188686	40726574	29	10871											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751537	140751537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgaccacgagcagctgCgtgccttcgagctcactctg	6	9	10	16	4	2	0	1	0	1	0	4	3	2	0	3	0	5	3	3	0	0	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140751537C>T	ENST00000576222.1	+	1	1707	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGTGCCTTCGA	0.692																																						uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1576-1578)Cgt>Tgt		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							37	44	42					5																	140751537		2132	4233	6365	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751537C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1576C>T	5.37:g.140751537C>T	ENSP00000461862:p.Arg526Cys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R526C|PCDHGC5_uc011dau.2_5'Flank	p.R526C	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1576	+			528			Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1576C>T	CCDS58980.1																																																																																				0.692	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140751537	C	T	140751537	3	4	155	1	0	0	0	0	1	0	0	0	11564	768	27	1	1578	1	PCDHGB3	5	140751537	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	562851	140751537	40163723	30	10872											
CAMK2A	815	broad.mit.edu	37	chr5	149602771	149602771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacgggcttgctgttcCgggaccacactggaggaggg	6	8	17	10	2	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	0	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:149602771C>T	ENST00000348628.6	-	17	1879	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.R416Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	405					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCTGTTCCGGGACCACAC	0.612																																						uc003lru.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1213-1215)cGg>cAg		Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.							57	65	62					5																	149602771		2201	4298	6499	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602771C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1214G>A	5.37:g.149602771C>T	ENSP00000261793:p.Arg405Gln					CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	p.R405Q	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1429	-		all_hematologic(541;0.224)	405					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1214G>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730158	0.69074	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.42513	0.97;0.97	5.02	5.02	0.67125	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.081845	0.48767	U	0.000174	T	0.31796	0.0808	N	0.15975	0.35	0.37842	D	0.929091	B;B;B	0.26195	0.144;0.106;0.144	B;B;B	0.28011	0.041;0.085;0.041	T	0.26189	-1.0110	10	0.49607	T	0.09	.	18.4099	0.90548	0.0:1.0:0.0:0.0	.	405;416;405	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	Q	405;416	ENSP00000261793:R405Q;ENSP00000381412:R416Q	ENSP00000261793:R405Q	R	-	2	0	CAMK2A	149582964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.201000	0.58439	2.350000	0.79820	0.456000	0.33151	CGG		0.612	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		T	149602771	C	T	149602771	3	4	155	1	0	0	0	0	1	0	0	0	2599	652	23	2	230	2	CAMK2A	5	149602771	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	8851234	149602771	31312489	31	10873											
LARP1	23367	broad.mit.edu	37	chr5	154188110	154188110	+	Silent	SNP	G	G	A																															cgagatcacttcaacaaaaaGatgtatgaggagttcaagca																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188110G>A	ENST00000336314.4	+	16	2583	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	930					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAAAAGATGTATGAGG	0.532																																						uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2557-2559)aaG>aaA		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.							77	75	76					5																	154188110		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154188110G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2559G>A	5.37:g.154188110G>A						LARP1_uc021ygh.1_Silent_p.K725K	p.K853K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		15	2583	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	930					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.2559G>A	CCDS4328.1																																																																																				0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		A	154188110	G	A	154188110	2	1	155	1	0	0	0	0	0	0	0	1	8628	933	33	3		3	LARP1	5	154188110	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	4585339	154188110	26727150	32	10874	14	2									
LARP1	23367	broad.mit.edu	37	chr5	154188112	154188112	+	Missense_Mutation	SNP	T	T	A																															agatcacttcaacaaaaagaTgtatgaggagttcaagcagc																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188112T>A	ENST00000336314.4	+	16	2585	c.2561T>A	c.(2560-2562)aTg>aAg	p.M854K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	931					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACAAAAAGATGTATGAGGAG	0.532																																						uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2560-2562)aTg>aAg		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.							77	75	76					5																	154188112		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154188112T>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2561T>A	5.37:g.154188112T>A	ENSP00000336721:p.Met854Lys					LARP1_uc021ygh.1_Missense_Mutation_p.M726K	p.M854K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		15	2585	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	931					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2561T>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	33	5.236312	0.95240	.	.	ENSG00000155506	ENST00000336314	T	0.52526	0.66	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.91510	3.215	0.80722	D	1	P;D	0.62365	0.955;0.991	P;D	0.65573	0.774;0.936	T	0.81099	-0.1086	10	0.87932	D	0	-8.1169	16.1883	0.81967	0.0:0.0:0.0:1.0	.	931;854	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	K	854	ENSP00000336721:M854K	ENSP00000336721:M854K	M	+	2	0	LARP1	154168305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.862000	0.87013	2.231000	0.72958	0.454000	0.30748	ATG		0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		A	154188112	T	A	154188112	3	1	155	1	0	0	0	0	1	0	0	0	8628	1464	51	5	2623	5	LARP1	5	154188112	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	2	154188112	26727148	33	10875	14	2									
GABRA6	2559	broad.mit.edu	37	chr5	161116737	161116737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagccttctccagtatGatctgattggacaaacagta	12	12	7	10	0	3	2	1	2	2	0	4	3	3	3	2	1	2	2	2	1	4	5	rs145469537		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:161116737G>T	ENST00000274545.5	+	6	1058	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.D199Y|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	209					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D209N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCCAGTATGATCTGATTGG	0.378										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.D209N(2)	skin(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(625-627)Gat>Tat		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74	82	79					5																	161116737		2203	4298	6501	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116737G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.625G>T	5.37:g.161116737G>T	ENSP00000274545:p.Asp209Tyr	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'UTR	p.D209Y	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	963	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	209					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.625G>T	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.280818|4.280818	0.80692|0.80692	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.78816|.	-1.21;-1.21;-1.21;-1.21|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.095949|.	0.64402|.	D|.	0.000001|.	T|T	0.76183|0.76183	0.3952|0.3952	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75133|0.75133	-0.3425|-0.3425	10|5	0.46703|.	T|.	0.11|.	.|.	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	209|.	Q16445|.	GBRA6_HUMAN|.	Y|I	209;199;156;129|148	ENSP00000274545:D209Y;ENSP00000430527:D199Y;ENSP00000430212:D156Y;ENSP00000427989:D129Y|.	ENSP00000274545:D209Y|.	D|M	+|+	1|3	0|0	GABRA6|GABRA6	161049315|161049315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.671000|9.671000	0.98627|0.98627	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161116737	G	T	161116737	3	4	155	1	0	0	0	0	1	0	0	0	6165	1290	45	5	647	5	GABRA6	5	161116737	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	6928625	161116737	19798523	34	10876											
ENPP5	59084	broad.mit.edu	37	chr6	46135819	46135819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattagtaacttgcttcaCgtgaacaccatatttcataa	15	13	4	9	1	2	1	2	1	0	0	2	1	2	1	1	0	4	2	1	0	6	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:46135819C>T	ENST00000371383.2	-	3	441	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.V61M					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACTTGCTTCACGTGAACACCA	0.348																																						uc003oxz.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(181-183)Gtg>Atg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.							48	47	47					6																	46135819		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135819C>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.181G>A	6.37:g.46135819C>T	ENSP00000360436:p.Val61Met					ENPP5_uc010jzc.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V61M	p.V61M	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN			1	389	-			61						Missense_Mutation	SNP	ENST00000371383.2	37	c.181G>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312213	0.81358	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73681	-0.77;-0.77	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.82823	2.61	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.87401	0.2369	10	0.72032	D	0.01	-18.0369	19.2358	0.93858	0.0:1.0:0.0:0.0	.	61;61	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	M	61	ENSP00000360436:V61M;ENSP00000230565:V61M	ENSP00000230565:V61M	V	-	1	0	ENPP5	46243778	0.998000	0.40836	0.998000	0.56505	0.912000	0.54170	3.736000	0.55052	2.613000	0.88420	0.591000	0.81541	GTG		0.348	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			T	46135819	C	T	46135819	3	4	155	1	0	0	0	0	1	0	0	0	5133	536	19	1	1264	1	ENPP5	6	46135819	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		46135819	124979248	35	10877											
LGSN	51557	broad.mit.edu	37	chr6	63991054	63991054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctcttatgttattcatTtcattgtcctttggatttgg	5	21	9	6	0	3	0	2	0	1	0	4	1	4	1	1	3	0	2	1	3	2	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:63991054T>A	ENST00000370657.4	-	4	435	c.402A>T	c.(400-402)gaA>gaT	p.E134D	LGSN_ENST00000370658.5_Missense_Mutation_p.E134D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	134					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGTTATTCATTTCATTGTCCT	0.393																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(400-402)gaA>gaT		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						118	114	115					6																	63991054		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63991054T>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.402A>T	6.37:g.63991054T>A	ENSP00000359691:p.Glu134Asp					LGSN_uc003pei.3_Missense_Mutation_p.E134D	p.E134D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	436	-			134					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.402A>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002101	0.35320	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.41758	0.99;0.99	5.57	3.13	0.36017	Glutamine synthetase, beta-Grasp (3);	0.043293	0.85682	N	0.000000	T	0.41511	0.1162	L	0.49640	1.575	0.51233	D	0.999911	D;B	0.89917	1.0;0.444	D;P	0.87578	0.998;0.473	T	0.41787	-0.9489	10	0.87932	D	0	-23.1288	6.9898	0.24750	0.0:0.0789:0.1502:0.7709	.	134;134	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	D	134	ENSP00000359692:E134D;ENSP00000359691:E134D	ENSP00000359691:E134D	E	-	3	2	LGSN	64049013	1.000000	0.71417	0.999000	0.59377	0.017000	0.09413	1.195000	0.32186	0.384000	0.24942	0.455000	0.32223	GAA		0.393	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		A	63991054	T	A	63991054	3	1	155	1	0	0	0	0	1	0	0	0	8759	1838	64	5	1131	5	LGSN	6	63991054	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	17855235	63991054	107124013	36	10878											
EPHA7	2045	broad.mit.edu	37	chr6	93956625	93956625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgctccttttgccaacaatCcaacattagctggtgaaggc	11	10	8	12	1	0	1	0	1	0	0	2	1	2	1	3	2	4	2	3	2	5	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:93956625C>G	ENST00000369303.4	-	15	2795	c.2611G>C	c.(2611-2613)Gat>Cat	p.D871H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	871	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCCAACAATCCAACATTAGC	0.418																																						uc003poe.3																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2611-2613)Gat>Cat		Homo sapiens EPH receptor A7 (EPHA7), mRNA.							99	97	98					6																	93956625		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956625C>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2611G>C	6.37:g.93956625C>G	ENSP00000358309:p.Asp871His					EPHA7_uc003pof.3_Missense_Mutation_p.D866H|EPHA7_uc011eac.2_Missense_Mutation_p.D867H	p.D871H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2852	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	871			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2611G>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841278	0.91197	.	.	ENSG00000135333	ENST00000369303	D	0.82803	-1.65	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.50333	1.59	0.80722	D	1	D;D;P	0.89917	1.0;0.971;0.95	D;P;P	0.81914	0.995;0.687;0.729	D	0.86547	0.1832	10	0.51188	T	0.08	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	867;866;871	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	871	ENSP00000358309:D871H	ENSP00000358309:D871H	D	-	1	0	EPHA7	94013346	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.992000	0.70609	2.838000	0.97847	0.591000	0.81541	GAT		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			G	93956625	C	G	93956625	3	3	155	1	0	0	0	0	1	0	0	0	5172	855	30	5	397	5	EPHA7	6	93956625	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	29965571	93956625	77158442	37	10879											
MAN1A1	4121	broad.mit.edu	37	chr6	119669897	119669897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagggcggcctccgggtCcccgggtgccccctcctcgc	1	6	13	21	4	0	0	0	0	0	0	5	0	4	0	8	4	1	0	8	4	0	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:119669897C>G	ENST00000368468.3	-	2	775	c.334G>C	c.(334-336)Gac>Cac	p.D112H	MAN1A1_ENST00000368466.2_Missense_Mutation_p.D112H	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	112					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCTCCGGGTCCCCGGGTGCC	0.761																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(334-336)Gac>Cac		Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.																																				SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669897C>G	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.334G>C	6.37:g.119669897C>G	ENSP00000357453:p.Asp112His					MAN1A1_uc010kei.2_Missense_Mutation_p.D112H	p.D112H	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	1	776	-		all_epithelial(87;0.173)	112					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.334G>C	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570842	0.45798	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.77620	-0.66;-1.11	4.77	3.9	0.45041	.	0.301129	0.25738	N	0.028640	T	0.40297	0.1111	N	0.22421	0.69	0.27628	N	0.948125	B;B	0.17038	0.02;0.001	B;B	0.08055	0.003;0.003	T	0.17167	-1.0378	9	.	.	.	-22.5303	7.779	0.29054	0.0:0.7389:0.0:0.2611	.	112;112	Q6P052;P33908	.;MA1A1_HUMAN	H	112	ENSP00000357453:D112H;ENSP00000357451:D112H	.	D	-	1	0	MAN1A1	119711596	0.993000	0.37304	0.998000	0.56505	0.693000	0.40251	1.710000	0.37920	1.000000	0.39049	0.455000	0.32223	GAC		0.761	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		G	119669897	C	G	119669897	3	3	155	1	0	0	0	0	1	0	0	0	9210	855	30	5	1675	5	MAN1A1	6	119669897	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	25713272	119669897	51445170	38	10880											
MED23	9439	broad.mit.edu	37	chr6	131929144	131929144	+	Frame_Shift_Del	DEL	C	C	-																															gtgcatttttctgaatacttCcagaaatgaattgcaggaga																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:131929144delC	ENST00000368068.3	-	12	1324	c.1145delG	c.(1144-1146)ggafs	p.G382fs	MED23_ENST00000368053.4_Frame_Shift_Del_p.G388fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.G388fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.G388fs|MED23_ENST00000545957.1_Intron|MED23_ENST00000368060.3_Frame_Shift_Del_p.G382fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.G388fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.G388fs|MED23_ENST00000539158.1_Frame_Shift_Del_p.G382fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	382					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGAATACTTCCAGAAATGAA	0.378																																						uc003qcs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1144-1146)ggafs		Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.							92	93	93					6																	131929144		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131929144delC	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1145delG	6.37:g.131929144delC	ENSP00000357047:p.Gly382fs					MED23_uc003qcq.3_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_Non-coding_Transcript	p.G382fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	11	1319	-	Breast(56;0.0753)		382					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.1145delG	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			-	131929144	C	-	131929144	7	5	155	1	0	1	0	1	0	0	0	0	9441	855	30	0	3040	0	MED23	6	131929144	Frame_Shift_Del	DEL	C	TCGA-19-2620-01A-01D-1495-08	12259247	131929144	39185923	39	10881											
ECT2L	345930	broad.mit.edu	37	chr6	139183819	139183819	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaactggcacgttctttacGgcccccactgggattgcaac	8	10	9	14	2	1	0	0	0	1	0	1	1	1	1	2	3	4	3	2	3	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:139183819G>A	ENST00000423192.1	+	10	1415	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ECT2L_ENST00000367682.2_Silent_p.T418T|ECT2L_ENST00000541398.1_Silent_p.T349T|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	418							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTTTACGGCCCCCACTG	0.463			"N, Splice, Mis"		ETP ALL																																	uc003qif.2				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1252-1254)acG>acA		Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.							85	81	82					6																	139183819		1942	4147	6089	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139183819G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1254G>A	6.37:g.139183819G>A						ECT2L_uc021zfx.1_Silent_p.T418T|ECT2L_uc011edq.1_Silent_p.T349T	p.T418T	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN			10	1579	+			418					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.1254G>A	CCDS43508.1																																																																																				0.463	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139183819	G	A	139183819	2	1	155	1	0	0	0	0	0	0	0	1	4902	1103	39	2		2	ECT2L	6	139183819	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	7254675	139183819	31931248	40	10882											
MAP3K4	4216	broad.mit.edu	37	chr6	161470034	161470034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaaagaaaaaagacAgggagcaaagaggacaagaa	22	2	11	6	0	1	4	1	0	1	4	2	6	1	6	0	2	1	1	0	2	7	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:161470034A>G	ENST00000392142.4	+	3	878	c.730A>G	c.(730-732)Agg>Ggg	p.R244G	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R244G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R244G|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R244G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	244					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAAAAGACAGGGAGCAAAG	0.433																																						uc003qtn.3																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(730-732)Agg>Ggg		Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.							45	46	46					6																	161470034		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470034A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.730A>G	6.37:g.161470034A>G	ENSP00000375986:p.Arg244Gly					MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.3_Missense_Mutation_p.R244G|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	p.R244G	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	2	872	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	244					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.730A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.710782	0.48517	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.14	0.438	0.16560	.	0.056120	0.64402	D	0.000001	T	0.19127	0.0459	L	0.59436	1.845	0.34887	D	0.745166	P;P	0.45348	0.825;0.856	B;B	0.41946	0.371;0.285	T	0.10382	-1.0632	10	0.21014	T	0.42	-38.3706	15.4048	0.74868	0.4767:0.5233:0.0:0.0	.	244;244	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	G	244	ENSP00000355886:R244G;ENSP00000375986:R244G;ENSP00000355887:R244G;ENSP00000297332:R244G	ENSP00000297332:R244G	R	+	1	2	MAP3K4	161390024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.588000	0.46137	0.115000	0.18071	0.519000	0.50382	AGG		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			G	161470034	A	G	161470034	3	3	155	1	0	0	0	0	1	0	0	0	9252	179	7	4	740	4	MAP3K4	6	161470034	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	22286215	161470034	9645033	41	10883											
NPC1L1	29881	broad.mit.edu	37	chr7	44579249	44579249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcaggtcgccacgtcGtcaccttgggactcattgca	8	8	12	13	3	2	0	2	0	0	0	4	2	2	2	2	3	2	2	2	3	0	2	rs148698796	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:44579249G>A	ENST00000289547.4	-	2	802	c.747C>T	c.(745-747)gaC>gaT	p.D249D	NPC1L1_ENST00000546276.1_Silent_p.D249D|NPC1L1_ENST00000423141.1_Silent_p.D249D|NPC1L1_ENST00000381160.3_Silent_p.D249D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	249					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGCCACGTCGTCACCTTGGG	0.632													G|||	3	0.000599042	0	0.0029	5008	,	,		17620	0		0.001	False		,,,				2504	0					uc003tlb.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(745-747)gaC>gaT		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)	G	,	1,4405	2.1+/-5.4	0,1,2202	64	60	61		747,747	-9.8	0	7	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	249/1333,249/1360	44579249	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579249G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.747C>T	7.37:g.44579249G>A						NPC1L1_uc011kbw.2_Silent_p.D249D|NPC1L1_uc003tlc.3_Silent_p.D249D|NPC1L1_uc003tld.3_Silent_p.D249D	p.D249D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			1	803	-			249					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.747C>T	CCDS5491.1																																																																																				0.632	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		A	44579249	G	A	44579249	2	1	155	1	0	0	0	0	0	0	0	1	10571	1136	40	1		1	NPC1L1	7	44579249	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08		44579249	114559414	42	10884											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	155	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10653794	55233043	103905620	43	10885											
CACNA2D1	781	broad.mit.edu	37	chr7	81598223	81598223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaggtttaagaagtttcCcttgaatatatatttctaca	12	16	6	7	0	1	2	0	1	1	1	2	2	2	2	1	1	2	3	1	1	7	9			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:81598223C>T	ENST00000356253.5	-	29	2666	c.2411G>A	c.(2410-2412)gGg>gAg	p.G804E	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G792E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	804					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAGAAGTTTCCCTTGAATATA	0.284																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2374-2376)gGg>gAg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						93	101	99					7																	81598223		2203	4293	6496	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81598223C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2411G>A	7.37:g.81598223C>T	ENSP00000348589:p.Gly804Glu					CACNA2D1_uc011kgy.1_Intron	p.G792E	NM_000722	NP_000713	P54289	CA2D1_HUMAN			28	2631	-			804					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2375G>A		.	.	.	.	.	.	.	.	.	.	C	10.66	1.412566	0.25465	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.69806	-0.43;-0.43	5.07	5.07	0.68467	.	0.110187	0.64402	D	0.000006	T	0.59128	0.2171	L	0.35644	1.08	0.80722	D	1	B	0.20368	0.044	B	0.26969	0.075	T	0.53641	-0.8410	10	0.23891	T	0.37	-18.0419	16.9785	0.86321	0.0:1.0:0.0:0.0	.	792	P54289-2	.	E	792;811;804	ENSP00000349320:G792E;ENSP00000348589:G804E	ENSP00000284088:G811E	G	-	2	0	CACNA2D1	81436159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.195000	0.65131	2.518000	0.84900	0.484000	0.47621	GGG		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81598223	C	T	81598223	3	4	155	1	0	0	0	0	1	0	0	0	2548	623	22	3	944	3	CACNA2D1	7	81598223	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	26365180	81598223	77540440	44	10886											
CHMP4C	92421	broad.mit.edu	37	chr8	82644913	82644913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcttctaagagccgaGccgctcccagtccccaggag	7	6	12	16	3	2	1	0	0	2	1	4	3	4	2	5	2	2	2	5	2	1	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:82644913G>A	ENST00000297265.4	+	1	245	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	18	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TAAGAGCCGAGCCGCTCCCAG	0.587																																						uc003ycl.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						c.(52-54)Gcc>Acc		Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.							12	14	13					8																	82644913		2198	4289	6487	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82644913G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.52G>A	8.37:g.82644913G>A	ENSP00000297265:p.Ala18Thr						p.A18T	NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN			0	226	+			18			Intramolecular interaction with C- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.52G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909164	0.33721	.	.	ENSG00000164695	ENST00000297265	T	0.54479	0.57	5.32	4.45	0.53987	.	0.359311	0.30859	N	0.008734	T	0.39600	0.1084	L	0.39397	1.21	0.18873	N	0.999983	P	0.36086	0.536	B	0.33454	0.164	T	0.26430	-1.0103	10	0.33141	T	0.24	-4.2109	9.3539	0.38155	0.1597:0.0:0.8403:0.0	.	18	Q96CF2	CHM4C_HUMAN	T	18	ENSP00000297265:A18T	ENSP00000297265:A18T	A	+	1	0	CHMP4C	82807468	0.048000	0.20356	0.028000	0.17463	0.924000	0.55760	1.428000	0.34892	1.466000	0.48025	0.655000	0.94253	GCC		0.587	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		A	82644913	G	A	82644913	3	1	155	1	0	0	0	0	1	0	0	0	3358	971	34	3	54	3	CHMP4C	8	82644913	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		82644913	63719109	45	10887											
WDYHV1	55093	broad.mit.edu	37	chr8	124453566	124453566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccaaaatgaacctgaacGatttcatcagtatggatccc	14	11	6	10	1	2	2	2	2	0	0	4	4	4	3	3	1	2	1	3	1	5	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:124453566G>A	ENST00000287387.2	+	6	654	c.529G>A	c.(529-531)Gat>Aat	p.D177N	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.D117N|WDYHV1_ENST00000518125.1_Missense_Mutation_p.D29N	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	177					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GAACCTGAACGATTTCATCAG	0.373																																						uc003yqn.1																			0		p.N176S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(529-531)Gat>Aat		Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.							58	50	53					8																	124453566		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124453566G>A	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 32"	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.529G>A	8.37:g.124453566G>A	ENSP00000287387:p.Asp177Asn					WDYHV1_uc011lij.1_Missense_Mutation_p.D117N	p.D177N	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			5	654	+			177					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.529G>A	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256027	0.59321	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000518125	T;T;T	0.17528	2.27;2.27;2.27	6.02	5.14	0.70334	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.253571	0.43579	D	0.000556	T	0.14356	0.0347	L	0.39692	1.235	0.49687	D	0.999816	B	0.23591	0.088	B	0.17722	0.019	T	0.02661	-1.1127	10	0.42905	T	0.14	-8.1564	10.4511	0.44522	0.1393:0.0:0.8607:0.0	.	177	Q96HA8	NTAQ1_HUMAN	N	177;117;29	ENSP00000287387:D177N;ENSP00000430427:D117N;ENSP00000429258:D29N	ENSP00000287387:D177N	D	+	1	0	WDYHV1	124522747	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.276000	0.58933	2.865000	0.98341	0.655000	0.94253	GAT		0.373	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		A	124453566	G	A	124453566	3	1	155	1	0	0	0	0	1	0	0	0	17340	1058	37	2	551	2	WDYHV1	8	124453566	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	41808653	124453566	21910456	46	10888											
SLC45A4	57210	broad.mit.edu	37	chr8	142228261	142228261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccacagcaggcgcaccGtggtctcgccctccccctcc	6	5	10	20	3	1	1	0	0	1	1	4	1	3	1	6	2	2	2	6	2	0	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:142228261G>A	ENST00000024061.3	-	4	1632	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	SLC45A4_ENST00000433583.2_Missense_Mutation_p.T435M|SLC45A4_ENST00000517878.1_Missense_Mutation_p.T493M|SLC45A4_ENST00000519067.1_Missense_Mutation_p.T442M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGCGCACCGTGGTCTCGCC	0.682																																						uc003ywd.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1324-1326)aCg>aTg		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							73	63	66					8																	142228261		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228261G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1325C>T	8.37:g.142228261G>A	ENSP00000024061:p.Thr442Met					SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	p.T442M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	1633	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		493					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1325C>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298088	0.81025	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71184	0.912;0.972;0.96	D	0.98380	1.0558	10	0.87932	D	0	-51.259	18.8194	0.92090	0.0:0.0:1.0:0.0	.	493;442;442	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	442;493;435;442	ENSP00000429059:T442M;ENSP00000428137:T493M;ENSP00000400799:T435M;ENSP00000024061:T442M	ENSP00000024061:T442M	T	-	2	0	SLC45A4	142297443	1.000000	0.71417	0.994000	0.49952	0.898000	0.52572	3.501000	0.53325	2.535000	0.85469	0.561000	0.74099	ACG		0.682	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142228261	G	A	142228261	3	1	155	1	0	0	0	0	1	0	0	0	14643	1145	40	1	1091	1	SLC45A4	8	142228261	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	17774695	142228261	4135761	47	10889											
RHPN1	114822	broad.mit.edu	37	chr8	144462083	144462083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtctcctggactgccctgGtgcatgtcaaggccgagtac	6	10	12	13	1	2	0	1	0	1	0	3	2	2	1	3	3	3	2	3	3	2	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:144462083G>A	ENST00000289013.6	+	9	1131	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	344	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GACTGCCCTGGTGCATGTCAA	0.657																																						uc003yyb.3																			0				endometrium(1)|large_intestine(1)|lung(7)	9						c.(1030-1032)Gtg>Atg		Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.							43	55	51					8																	144462083		2147	4229	6376	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144462083G>A	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1030G>A	8.37:g.144462083G>A	ENSP00000289013:p.Val344Met						p.V344M	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		8	1163	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		344			BRO1.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.1030G>A	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294920	0.81025	.	.	ENSG00000158106	ENST00000289013	T	0.24151	1.87	4.53	4.53	0.55603	.	0.140928	0.47455	D	0.000238	T	0.52533	0.1740	M	0.79805	2.47	0.58432	D	0.999991	D	0.76494	0.999	D	0.68621	0.959	T	0.59820	-0.7382	10	0.59425	D	0.04	-18.1618	16.2103	0.82150	0.0:0.0:1.0:0.0	.	344	Q8TCX5-2	.	M	344	ENSP00000289013:V344M	ENSP00000289013:V344M	V	+	1	0	RHPN1	144533226	1.000000	0.71417	0.251000	0.24312	0.527000	0.34593	9.528000	0.98046	2.058000	0.61347	0.511000	0.50034	GTG		0.657	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			A	144462083	G	A	144462083	3	1	155	1	0	0	0	0	1	0	0	0	13350	1261	44	3	1064	3	RHPN1	8	144462083	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	2233822	144462083	1901939	48	10890											
TAF1L	138474	broad.mit.edu	37	chr9	32633610	32633610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgtgctttagcaaaggTtggactgaatggggacctgg	9	12	15	5	0	0	2	0	2	0	0	0	4	0	4	1	5	2	3	1	5	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:32633610T>A	ENST00000242310.4	-	1	2057	c.1968A>T	c.(1966-1968)caA>caT	p.Q656H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	656					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGCAAAGGTTGGACTGAAT	0.502																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1966-1968)caA>caT		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							145	136	139					9																	32633610		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633610T>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1968A>T	9.37:g.32633610T>A	ENSP00000418379:p.Gln656His					AX747113_uc003zrh.1_Non-coding_Transcript	p.Q656H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	2058	-			656					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1968A>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.403152	0.42613	.	.	ENSG00000122728	ENST00000242310	T	0.13778	2.56	0.633	-0.894	0.10563	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.03783	0.0107	N	0.02916	-0.46	0.44619	D	0.997598	B	0.06786	0.001	B	0.10450	0.005	T	0.44019	-0.9355	10	0.15066	T	0.55	.	4.4122	0.11438	0.0:0.5608:0.0:0.4392	.	656	Q8IZX4	TAF1L_HUMAN	H	656	ENSP00000418379:Q656H	ENSP00000418379:Q656H	Q	-	3	2	TAF1L	32623610	0.980000	0.34600	0.992000	0.48379	0.765000	0.43378	-0.098000	0.11024	-0.366000	0.08064	0.164000	0.16699	CAA		0.502	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32633610	T	A	32633610	3	1	155	1	0	0	0	0	1	0	0	0	15520	1722	60	5	3516	5	TAF1L	9	32633610	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08		32633610	108579821	49	10891											
AKAP2	11217	broad.mit.edu	37	chr9	112899196	112899196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggagagagctcatcCgcagccaggccgtcaagaag	13	3	15	10	2	2	3	2	0	0	3	3	6	3	4	3	3	2	2	3	3	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:112899196C>T	ENST00000259318.7	+	2	886	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	AKAP2_ENST00000434623.2_Missense_Mutation_p.R316C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R458C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R458C|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R458C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R458C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R316C	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	227										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGAGCTCATCCGCAGCCAGGC	0.512																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2068-2070)Cgc>Tgc		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							63	64	64					9																	112899196		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899196C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.679C>T	9.37:g.112899196C>T	ENSP00000259318:p.Arg227Cys					PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R227C	p.R690C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			8	2260	+			227					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2068C>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634185	0.67130	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.99	5.99	0.97316	.	0.144846	0.49305	D	0.000154	T	0.66733	0.2819	L	0.59436	1.845	0.51012	D	0.999905	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;P;D;D;P	0.65773	0.807;0.923;0.926;0.923;0.84;0.938;0.938;0.869	T	0.68104	-0.5497	10	0.87932	D	0	-31.5808	12.959	0.58447	0.2524:0.7476:0.0:0.0	.	227;316;310;316;317;458;458;276	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	C	458;458;458;458;316;316;276;227	ENSP00000363654:R458C;ENSP00000305861:R458C;ENSP00000451476:R458C;ENSP00000421522:R458C;ENSP00000404782:R316C;ENSP00000363649:R316C;ENSP00000419268:R276C;ENSP00000259318:R227C	ENSP00000259318:R227C	R	+	1	0	PALM2-AKAP2;AKAP2	111939017	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.417000	0.44653	2.840000	0.97914	0.655000	0.94253	CGC		0.512	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		T	112899196	C	T	112899196	3	4	155	1	0	0	0	0	1	0	0	0	451	652	23	2	952	2	AKAP2	9	112899196	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	80265586	112899196	28314235	50	10892											
PMPCA	23203	broad.mit.edu	37	chr9	139306464	139306464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaggtttggacctcctgcGtacagacggtttagtagtgg	7	14	13	7	2	0	1	0	0	0	1	1	2	1	2	2	4	2	4	2	4	4	7	rs201155751	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:139306464G>A	ENST00000371717.3	+	2	96	c.87G>A	c.(85-87)gcG>gcA	p.A29A	PMPCA_ENST00000371720.1_Silent_p.A29A|PMPCA_ENST00000399219.3_5'UTR|SDCCAG3_ENST00000371725.3_5'Flank|SDCCAG3_ENST00000298537.7_5'Flank|SDCCAG3_ENST00000357365.3_5'Flank	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	29					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GACCTCCTGCGTACAGACGGT	0.493																																						uc004chl.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(85-87)gcG>gcA		Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.							137	115	123					9																	139306464		2203	4300	6503	SO:0001819	synonymous_variant	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139306464G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.87G>A	9.37:g.139306464G>A						SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR	p.A29A	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	1	92	+		Myeloproliferative disorder(178;0.0821)	29					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371717.3	37	c.87G>A	CCDS35180.1																																																																																				0.493	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		A	139306464	G	A	139306464	2	1	155	1	0	0	0	0	0	0	0	1	12140	1132	40	1		1	PMPCA	9	139306464	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	26407268	139306464	1906967	51	10893											
AS3MT	57412	broad.mit.edu	37	chr10	104638210	104638210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgggttctgccctccaCgtttggtcactgccaatctc	7	13	8	13	1	3	0	1	0	2	0	5	0	4	0	3	2	2	2	3	2	2	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr10:104638210C>T	ENST00000369880.3	+	8	762	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	229					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTGCCCTCCACGTTTGGTCAC	0.408																																						uc001kwj.3																			0				large_intestine(1)|lung(6)	7						c.(691-693)Cgt>Tgt		Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.							182	174	177					10																	104638210		1887	4134	6021	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638210C>T	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.685C>T	10.37:g.104638210C>T	ENSP00000358896:p.Arg229Cys					AS3MT_uc009xxh.3_Missense_Mutation_p.R229C|AS3MT_uc001kwk.3_Missense_Mutation_p.R229C	p.R231C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	11	1090	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	229					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.691C>T	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116486	0.77323	.	.	ENSG00000214435	ENST00000369880	T	0.23147	1.92	5.48	4.57	0.56435	.	0.053428	0.64402	D	0.000001	T	0.49184	0.1542	M	0.84585	2.705	0.36784	D	0.884491	P;D;D	0.64830	0.939;0.994;0.994	P;P;P	0.58454	0.515;0.839;0.839	T	0.64639	-0.6360	9	0.56958	D	0.05	-15.267	13.531	0.61621	0.0:0.9218:0.0:0.0781	.	229;229;229	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	C	229	ENSP00000358896:R229C	ENSP00000358896:R229C	R	+	1	0	AS3MT	104628200	0.941000	0.31946	1.000000	0.80357	0.994000	0.84299	1.939000	0.40213	2.569000	0.86673	0.561000	0.74099	CGT		0.408	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		T	104638210	C	T	104638210	3	4	155	1	0	0	0	0	1	0	0	0	1005	536	19	1	715	1	AS3MT	10	104638210	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		104638210	30896537	52	10894											
OR52I1	390037	broad.mit.edu	37	chr11	4616048	4616048	+	Frame_Shift_Del	DEL	G	G	-																															ttgtactatctacctgggatGgcatccatctatgcggcctg																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:4616048delG	ENST00000530443.2	+	1	780	c.780delG	c.(778-780)atgfs	p.M260fs	OR52I1_ENST00000450052.2_Frame_Shift_Del_p.M284fs	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCTGGGATGGCATCCATCT	0.507																																						uc010qyi.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(778-780)atgfs		Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.							143	140	141					11																	4616048		2201	4298	6499	SO:0001589	frameshift_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4616048delG	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.780delG	11.37:g.4616048delG	ENSP00000436453:p.Met260fs						p.M260fs	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	780	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	260					Q6IF91	Frame_Shift_Del	DEL	ENST00000530443.2	37	c.780delG	CCDS59223.1																																																																																				0.507	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		-	4616048	G	-	4616048	7	5	155	1	0	1	0	1	0	0	0	0	11120	1348	47	0	782	0	OR52I1	11	4616048	Frame_Shift_Del	DEL	G	TCGA-19-2620-01A-01D-1495-08		4616048	130390468	53	10895											
OR5D18	219438	broad.mit.edu	37	chr11	55587445	55587445	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgtggtcactgaatccTttttattagctgtgatggcc	6	17	9	9	0	1	2	1	2	0	0	2	2	2	2	3	2	1	1	3	2	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:55587445T>A	ENST00000333976.4	+	1	360	c.340T>A	c.(340-342)Ttt>Att	p.F114I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACTGAATCCTTTTTATTAGC	0.433																																						uc010rin.2																			0		p.S113F(1)|p.F114F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(340-342)Ttt>Att		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							162	163	162					11																	55587445		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587445T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.340T>A	11.37:g.55587445T>A	ENSP00000335025:p.Phe114Ile						p.F114I	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	340	+		all_epithelial(135;0.208)	114					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.340T>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	7.150	0.583540	0.13749	.	.	ENSG00000186119	ENST00000333976	T	0.00922	5.54	4.85	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001134	T	0.01254	0.0041	L	0.52573	1.65	0.09310	N	1	B	0.23735	0.09	B	0.27262	0.078	T	0.42085	-0.9472	10	0.45353	T	0.12	-13.6999	8.9728	0.35917	0.2944:0.0:0.0:0.7056	.	114	Q8NGL1	OR5DI_HUMAN	I	114	ENSP00000335025:F114I	ENSP00000335025:F114I	F	+	1	0	OR5D18	55344021	0.000000	0.05858	0.020000	0.16555	0.152000	0.21847	-0.610000	0.05629	0.803000	0.34113	0.462000	0.41574	TTT		0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		A	55587445	T	A	55587445	3	1	155	1	0	0	0	0	1	0	0	0	11157	1609	56	5	342	5	OR5D18	11	55587445	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	50971397	55587445	79419071	54	10896											
ACRV1	56	broad.mit.edu	37	chr11	125542539	125542539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcatataatttgcatcctCgttccatgggagaagaggtt	11	12	10	8	1	0	2	0	0	0	2	3	3	2	2	2	2	2	4	2	2	3	5	rs370037825		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:125542539C>T	ENST00000533904.1	-	4	1089	c.747G>A	c.(745-747)acG>acA	p.T249T	ACRV1_ENST00000345274.1_Silent_p.T139T|ACRV1_ENST00000353070.1_Silent_p.T65T|ACRV1_ENST00000445562.1_Silent_p.T154T|ACRV1_ENST00000315608.3_Silent_p.T230T|ACRV1_ENST00000527795.1_Silent_p.T179T|ACRV1_ENST00000425431.1_Silent_p.T105T|ACRV1_ENST00000530048.1_Silent_p.T194T|ACRV1_ENST00000348856.3_Silent_p.T149T|ACRV1_ENST00000453509.1_Silent_p.T160T|CHEK1_ENST00000428830.2_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	249					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TTTGCATCCTCGTTCCATGGG	0.448													G|||	1	0.000199681	0	0	5008	,	,		21413	0.001		0	False		,,,				2504	0					uc001qcs.3																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(745-747)acG>acA		Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.		G	,,,,	0,4402		0,0,2201	188	163	172		,747,690,582,537	2.2	1	11		172	1,8597		0,1,4298	no	intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACRV1,CHEK1	NM_001114121.2,NM_001612.5,NM_020069.4,NM_020107.4,NM_020108.4	,,,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,249/266,230/247,194/211,179/196	125542539	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125542539C>T	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.747G>A	11.37:g.125542539C>T						CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Silent_p.T179T|ACRV1_uc001qcn.3_Silent_p.T194T|ACRV1_uc001qcr.3_Silent_p.T230T	p.T249T	NM_001612	NP_001603	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	3	865	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	249					Q53FF4	Silent	SNP	ENST00000533904.1	37	c.747G>A	CCDS8460.1																																																																																				0.448	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		T	125542539	C	T	125542539	2	4	155	1	0	0	0	0	0	0	0	1	172	871	31	2		2	ACRV1	11	125542539	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	69955094	125542539	9463977	55	10897											
ADAMTS20	80070	broad.mit.edu	37	chr12	43833726	43833726	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataagttctttctcttgtcGattagtactattaattcttt	10	21	4	6	1	3	0	0	0	3	0	5	1	3	0	0	0	1	2	0	0	6	10			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:43833726G>A	ENST00000389420.3	-	17	2436	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R813*|ADAMTS20_ENST00000395541.2_5'Flank	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	813	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R813*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCTTGTCGATTAGTACTA	0.299																																						uc010skx.2																			1	Substitution - Nonsense(1)	p.R813*(1)	endometrium(1)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2437-2439)Cga>Tga		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							95	88	90					12																	43833726		2201	4297	6498	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833726G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2437C>T	12.37:g.43833726G>A	ENSP00000374071:p.Arg813*					ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	p.R813*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	16	2437	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	813			Spacer.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.2437C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	40	8.493238	0.98836	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	5.44	3.53	0.40419	.	0.000000	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4122	0.67121	0.0:0.0:0.5579:0.4421	.	.	.	.	X	813	.	ENSP00000374068:R813X	R	-	1	2	ADAMTS20	42119993	1.000000	0.71417	0.965000	0.40720	0.961000	0.63080	3.475000	0.53136	0.865000	0.35603	0.650000	0.86243	CGA		0.299	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43833726	G	A	43833726	4	1	155	1	0	0	0	0	0	1	0	0	266	1066	37	2	3386	2	ADAMTS20	12	43833726	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		43833726	90018169	56	10898											
H1FNT	341567	broad.mit.edu	37	chr12	48723149	48723149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggccatggctgaggcGcctgggcccagtggcgaatc	6	6	18	11	2	0	1	0	1	0	0	1	2	0	1	3	6	0	1	3	6	1	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:48723149G>A	ENST00000335017.1	+	1	387	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TGGCTGAGGCGCCTGGGCCCA	0.657																																						uc001rrm.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(73-75)gcG>gcA		Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.							17	21	20					12																	48723149		2201	4298	6499	SO:0001819	synonymous_variant	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723149G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.75G>A	12.37:g.48723149G>A							p.A25A	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			0	387	+			25					Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	37	c.75G>A	CCDS8762.1																																																																																				0.657	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		A	48723149	G	A	48723149	2	1	155	1	0	0	0	0	0	0	0	1	6921	1074	38	1		1	H1FNT	12	48723149	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	4889423	48723149	85128746	57	10899											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022670	58022670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaatcgtgactagagcGctgatgttgtactgggctga	8	11	15	7	2	0	4	0	3	0	1	1	4	0	4	0	2	2	5	0	2	3	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:58022670G>A	ENST00000341156.4	-	8	1412	c.828C>T	c.(826-828)agC>agT	p.S276S	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Silent_p.S243S|B4GALNT1_ENST00000418555.2_Silent_p.S221S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	276					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTAGAGCGCTGATGTTGT	0.577																																						uc001spg.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(826-828)agC>agT		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.							71	67	69					12																	58022670		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022670G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.828C>T	12.37:g.58022670G>A						B4GALNT1_uc010sru.2_Silent_p.S221S|B4GALNT1_uc010srv.2_Silent_p.S243S	p.S276S	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1260	-	Melanoma(17;0.122)		276					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.828C>T	CCDS8950.1																																																																																				0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		A	58022670	G	A	58022670	2	1	155	1	0	0	0	0	0	0	0	1	1266	1078	38	1		1	B4GALNT1	12	58022670	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	9299521	58022670	75829225	58	10900											
PTPN11	5781	broad.mit.edu	37	chr12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtccagacagaagcacaGtaccgatttatctatatggc	13	10	9	9	1	1	2	0	0	1	2	2	3	2	2	2	2	2	2	2	2	5	5	rs397507550		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:112926910G>C	ENST00000351677.2	+	13	1728	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	514	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Q -> P (in LEOPARD1). {ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15690106}.|Q -> R (in NS1). {ECO:0000269|PubMed:15948193}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													uc001ttx.3				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		0		p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1528-1530)caG>caC		Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.							182	171	174					12																	112926910		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926910G>C	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1530G>C	12.37:g.112926910G>C	ENSP00000340944:p.Gln510His						p.Q510H	NM_002834	NP_002825	Q06124	PTN11_HUMAN			12	1910	+			514		Q -> P (in LEOPARD1).|Q -> R (in NS1).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1530G>C	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041522	0.75732	.	.	ENSG00000179295	ENST00000351677	D	0.99677	-6.37	5.13	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99056	1.0829	10	0.87932	D	0	.	9.2895	0.37778	0.2656:0.0:0.7344:0.0	.	510	Q06124-2	.	H	510	ENSP00000340944:Q510H	ENSP00000340944:Q510H	Q	+	3	2	PTPN11	111411293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	0.278000	0.22164	0.650000	0.86243	CAG		0.493	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			C	112926910	G	C	112926910	3	2	155	1	0	0	0	0	1	0	0	0	12780	1020	36	5	1580	5	PTPN11	12	112926910	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	54904240	112926910	20924985	59	10901											
C12orf52	84934	broad.mit.edu	37	chr12	113629392	113629392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacactcttcacgccccCtgaagcggggactttcccat	7	10	9	15	2	2	1	1	1	1	0	3	2	3	2	3	3	2	1	3	3	2	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:113629392C>T	ENST00000548278.1	+	4	1272	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.L218L|C12orf52_ENST00000549621.1_Silent_p.L194L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		194	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCACGCCCCCTGAAGCGGGG	0.607																																						uc001tur.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(580-582)Ctg>Ttg		Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.							57	55	56					12																	113629392		2203	4300	6503	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629392C>T																												ENST00000548278.1:c.580C>T	12.37:g.113629392C>T							p.L194L	NM_032848	NP_116237	Q96K30	RITA_HUMAN			3	1048	+			194			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.580C>T	CCDS9166.1																																																																																				0.607	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			T	113629392	C	T	113629392	2	4	155	1	0	0	0	0	0	0	0	1	1697	680	24	3		3	C12orf52	12	113629392	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	702482	113629392	20222503	60	10902											
DNAH10	196385	broad.mit.edu	37	chr12	124393905	124393905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaacagccaagggcGtgatgtccgacccgaatttc	12	7	11	11	3	0	1	0	1	0	0	2	4	1	2	3	2	2	0	3	2	4	1	rs571654959		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:124393905G>A	ENST00000409039.3	+	57	9584	c.9559G>A	c.(9559-9561)Gtg>Atg	p.V3187M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3187	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCAAGGGCGTGATGTCCGA	0.502													g|||	1	0.000199681	8e-04	0	5008	,	,		21150	0		0	False		,,,				2504	0					uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9559-9561)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							67	67	67					12																	124393905		1959	4155	6114	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124393905G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9559G>A	12.37:g.124393905G>A	ENSP00000386770:p.Val3187Met						p.V3187M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	56	9584	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3187			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9559G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	g	5.213	0.224893	0.09916	.	.	ENSG00000197653	ENST00000409039	T	0.75589	-0.95	5.43	4.28	0.50868	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	N	0.000000	T	0.37019	0.0988	N	0.00583	-1.355	0.31746	N	0.635168	B	0.09022	0.002	B	0.08055	0.003	T	0.43015	-0.9417	10	0.02654	T	1	.	11.4354	0.50064	0.9289:0.0:0.0711:0.0	.	3187	Q8IVF4	DYH10_HUMAN	M	3187	ENSP00000386770:V3187M	ENSP00000386770:V3187M	V	+	1	0	DNAH10	122959858	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.244000	0.72391	0.886000	0.36113	-0.405000	0.06341	GTG		0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124393905	G	A	124393905	3	1	155	1	0	0	0	0	1	0	0	0	4598	1145	40	1	9785	1	DNAH10	12	124393905	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10764513	124393905	9457990	61	10903											
GPR133	283383	broad.mit.edu	37	chr12	131475583	131475583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctttattgtcttcaaCgctgccaagcctcttcatga	8	14	7	12	1	4	1	2	1	2	0	4	1	4	1	2	0	4	3	2	0	3	5	rs535355861		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:131475583C>T	ENST00000261654.5	+	7	1329	c.770C>T	c.(769-771)aCg>aTg	p.T257M	GPR133_ENST00000535015.1_Missense_Mutation_p.T289M|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	257					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGTCTTCAACGCTGCCAAGC	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		17673	0		0	False		,,,				2504	0					uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(865-867)aCg>aTg		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							135	104	115					12																	131475583		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131475583C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.770C>T	12.37:g.131475583C>T	ENSP00000261654:p.Thr257Met					GPR133_uc001uit.4_Missense_Mutation_p.T257M	p.T289M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	7	1425	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		257					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.866C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551039	0.45383	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.57107	0.43;0.42	4.4	2.56	0.30785	.	0.297070	0.30840	N	0.008776	T	0.57636	0.2067	L	0.57536	1.79	0.09310	N	0.999994	D;D	0.76494	0.999;0.997	P;P	0.55011	0.766;0.611	T	0.51212	-0.8734	10	0.87932	D	0	.	8.6417	0.33981	0.0:0.8165:0.0:0.1835	.	289;257	B7ZLF7;Q6QNK2	.;GP133_HUMAN	M	257;197;289;16	ENSP00000261654:T257M;ENSP00000444425:T289M	ENSP00000261654:T257M	T	+	2	0	GPR133	130041536	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	2.315000	0.43752	0.576000	0.29452	0.557000	0.71058	ACG		0.478	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131475583	C	T	131475583	3	4	155	1	0	0	0	0	1	0	0	0	6643	536	19	1	796	1	GPR133	12	131475583	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	7081678	131475583	2376312	62	10904											
MDGA2	161357	broad.mit.edu	37	chr14	47389235	47389235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctgatgcccaaccggtAtgcaacaatccgatccactg	10	8	8	15	2	0	1	0	1	0	0	2	2	2	1	5	1	5	2	5	1	4	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:47389235A>G	ENST00000399232.2	-	10	2375	c.2011T>C	c.(2011-2013)Tac>Cac	p.Y671H	MDGA2_ENST00000357362.3_Missense_Mutation_p.Y442H|MDGA2_ENST00000426342.1_Missense_Mutation_p.Y442H|MDGA2_ENST00000439988.3_Missense_Mutation_p.Y740H	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	671	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAACCGGTATGCAACAATC	0.423																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(2218-2220)Tac>Cac		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							122	114	116					14																	47389235		1904	4123	6027	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47389235A>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2011T>C	14.37:g.47389235A>G	ENSP00000382178:p.Tyr671His					MDGA2_uc001wwi.4_Missense_Mutation_p.Y442H|MDGA2_uc010ani.3_Missense_Mutation_p.Y231H	p.Y740H	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			9	2376	-			671					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2218T>C		.	.	.	.	.	.	.	.	.	.	A	17.89	3.499858	0.64298	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.39	5.39	0.77823	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000232	T	0.64382	0.2593	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.973	T	0.67461	-0.5665	10	0.87932	D	0	.	13.6596	0.62359	1.0:0.0:0.0:0.0	.	442;671	F6W3S7;Q7Z553	.;MDGA2_HUMAN	H	671;442;740;442	ENSP00000400011:Y671H;ENSP00000405456:Y442H;ENSP00000382178:Y740H;ENSP00000349925:Y442H	ENSP00000349925:Y442H	Y	-	1	0	MDGA2	46458985	1.000000	0.71417	0.913000	0.36048	0.369000	0.29798	8.728000	0.91484	2.180000	0.69256	0.482000	0.46254	TAC		0.423	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		G	47389235	A	G	47389235	3	3	155	1	0	0	0	0	1	0	0	0	9407	449	16	4	891	4	MDGA2	14	47389235	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08		47389235	59960305	63	10905											
SYNE2	23224	broad.mit.edu	37	chr14	64686074	64686074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaaatgttaaagatGgcaaagcctccctctgatat	13	10	10	8	0	1	2	0	1	1	1	2	4	2	3	2	2	2	3	2	2	5	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:64686074G>A	ENST00000344113.4	+	109	19949	c.19737G>A	c.(19735-19737)atG>atA	p.M6579I	SYNE2_ENST00000358025.3_Missense_Mutation_p.M6602I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.M362I|SYNE2_ENST00000357395.3_Missense_Mutation_p.M2964I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M2964I|SYNE2_ENST00000555022.1_Missense_Mutation_p.M457I|SYNE2_ENST00000554584.1_Missense_Mutation_p.M6495I|SYNE2_ENST00000441438.2_Missense_Mutation_p.M110I|SYNE2_ENST00000458046.2_Missense_Mutation_p.M236I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M3236I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6579					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTAAAGATGGCAAAGCCTC	0.433																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(19804-19806)atG>atA		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							84	82	83					14																	64686074		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64686074G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19737G>A	14.37:g.64686074G>A	ENSP00000341781:p.Met6579Ile					SYNE2_uc001xgm.3_Missense_Mutation_p.M6579I|SYNE2_uc010apy.3_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.3_Missense_Mutation_p.M1541I|SYNE2_uc021rui.1_Missense_Mutation_p.M1540I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.M549I|SYNE2_uc001xgq.3_Missense_Mutation_p.M944I|SYNE2_uc001xgr.3_Missense_Mutation_p.M362I|SYNE2_uc010tsi.2_Missense_Mutation_p.M236I|SYNE2_uc001xgs.3_Missense_Mutation_p.M236I|SYNE2_uc001xgt.3_Missense_Mutation_p.M110I	p.M6602I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	20036	+			6579					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19806G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.477	0.456273	0.12283	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.53	1.64	0.23874	.	1.185320	0.06194	N	0.681828	T	0.37073	0.0990	L	0.29908	0.895	0.09310	N	0.999995	B;B;B;B;B;B;B;B	0.24576	0.036;0.008;0.106;0.029;0.01;0.024;0.018;0.029	B;B;B;B;B;B;B;B	0.22880	0.033;0.004;0.042;0.019;0.007;0.013;0.007;0.019	T	0.29912	-0.9996	10	0.36615	T	0.2	.	9.5329	0.39205	0.4181:0.0:0.5819:0.0	.	236;2964;110;236;967;6495;6579;6602	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	I	6602;2964;6579;6495;6501;3236;2964;457;362;236;110	ENSP00000350719:M6602I;ENSP00000349969:M2964I;ENSP00000341781:M6579I;ENSP00000452570:M6495I;ENSP00000450831:M3236I;ENSP00000378249:M2964I;ENSP00000451009:M457I;ENSP00000450605:M362I;ENSP00000391937:M236I;ENSP00000396794:M110I	ENSP00000261678:M6501I	M	+	3	0	SYNE2	63755827	0.001000	0.12720	0.018000	0.16275	0.388000	0.30384	0.690000	0.25451	0.287000	0.22375	-0.136000	0.14681	ATG		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64686074	G	A	64686074	3	1	155	1	0	0	0	0	1	0	0	0	15443	1348	47	3	20240	3	SYNE2	14	64686074	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	17296839	64686074	42663466	64	10906											
LTBP2	4053	broad.mit.edu	37	chr14	75078500	75078500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgccgcagtcgattcgCgtctccaccagccggctcgt	5	7	13	16	7	1	0	0	0	1	0	5	1	1	0	4	2	1	2	4	2	0	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:75078500C>T	ENST00000261978.4	-	1	534	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	LTBP2_ENST00000556690.1_Missense_Mutation_p.A50T|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.2_ENST00000556652.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	50					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCGATTCGCGTCTCCACCA	0.692																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(148-150)Gcg>Acg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							12	15	14					14																	75078500		2178	4264	6442	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078500C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.148G>A	14.37:g.75078500C>T	ENSP00000261978:p.Ala50Thr						p.A50T	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	0	535	-			50					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.148G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840570	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78924	-1.21;-1.22	3.5	2.5	0.30297	.	0.696787	0.11843	N	0.524100	T	0.69468	0.3114	L	0.27053	0.805	0.09310	N	0.999999	D	0.60575	0.988	P	0.46275	0.51	T	0.62201	-0.6904	10	0.72032	D	0.01	.	11.3417	0.49537	0.0:0.8158:0.1842:0.0	.	50	Q14767	LTBP2_HUMAN	T	50	ENSP00000261978:A50T;ENSP00000451477:A50T	ENSP00000261978:A50T	A	-	1	0	LTBP2	74148253	0.003000	0.15002	0.594000	0.28785	0.847000	0.48162	0.978000	0.29488	1.964000	0.57103	0.462000	0.41574	GCG		0.692	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	75078500	C	T	75078500	3	4	155	1	0	0	0	0	1	0	0	0	9074	768	27	1	5461	1	LTBP2	14	75078500	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	10392426	75078500	32271040	65	10907											
AK7	122481	broad.mit.edu	37	chr14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacggtgatgacttgggCgcgctccaaagccctggacc	7	7	14	13	4	0	2	0	2	0	0	2	4	1	3	3	3	1	1	3	3	1	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:96875256C>T	ENST00000267584.4	+	4	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	159					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473																																						uc001yfn.2																			0		p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(475-477)gCg>gTg		Homo sapiens adenylate kinase 7 (AK7), mRNA.							88	85	86					14																	96875256		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875256C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.476C>T	14.37:g.96875256C>T	ENSP00000267584:p.Ala159Val						p.A159V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	3	520	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	159					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.476C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313464	0.40996	.	.	ENSG00000140057	ENST00000267584	T	0.43294	0.95	5.1	5.1	0.69264	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.69185	2.1	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	T	0.55173	-0.8182	10	0.45353	T	0.12	-27.8015	15.7785	0.78242	0.0:1.0:0.0:0.0	.	159	Q96M32	KAD7_HUMAN	V	159	ENSP00000267584:A159V	ENSP00000267584:A159V	A	+	2	0	AK7	95945009	0.998000	0.40836	0.955000	0.39395	0.036000	0.12997	4.965000	0.63708	2.535000	0.85469	0.655000	0.94253	GCG		0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			T	96875256	C	T	96875256	3	4	155	1	0	0	0	0	1	0	0	0	444	768	27	1	490	1	AK7	14	96875256	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	21796756	96875256	10474284	66	10908											
PACS2	23241	broad.mit.edu	37	chr14	105859121	105859121	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggctgcccagcagcggCgaggctgcagccacgcccac	8	2	14	17	3	0	0	0	0	0	0	0	1	0	0	3	3	6	5	3	3	0	0	rs190752624		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:105859121C>G	ENST00000325438.8	+	22	2880	c.2376C>G	c.(2374-2376)ggC>ggG	p.G792G	PACS2_ENST00000551743.1_Silent_p.G306G|PACS2_ENST00000551801.1_5'UTR|PACS2_ENST00000458164.2_Silent_p.G807G|PACS2_ENST00000547217.1_Silent_p.G762G|PACS2_ENST00000430725.2_Silent_p.G717G|PACS2_ENST00000447393.1_Silent_p.G796G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	792					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCAGCAGCGGCGAGGCTGCAG	0.612																																						uc001yqu.3																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(2419-2421)ggC>ggG		Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.							62	55	58					14																	105859121		2200	4299	6499	SO:0001819	synonymous_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105859121C>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2376C>G	14.37:g.105859121C>G						PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqt.3_Silent_p.G792G|PACS2_uc001yqv.3_Silent_p.G796G	p.G807G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	22	2925	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	792					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	c.2421C>G	CCDS32168.1																																																																																				0.612	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		G	105859121	C	G	105859121	2	3	155	1	0	0	0	0	0	0	0	1	11373	755	27	5		5	PACS2	14	105859121	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	8983865	105859121	1490419	67	10909											
TRPM1	4308	broad.mit.edu	37	chr15	31295059	31295059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctattgatgctgctttgccGgagaagatacgttgcctcac	8	12	11	10	2	1	3	1	1	0	2	1	4	1	3	2	1	5	4	2	1	3	5	rs372226363		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:31295059G>A	ENST00000256552.6	-	28	3991	c.3844C>T	c.(3844-3846)Cgg>Tgg	p.R1282W	TRPM1_ENST00000542188.1_Missense_Mutation_p.R1299W|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1260W|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1260W(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCTTTGCCGGAGAAGATAC	0.473													G|||	1	0.000199681	0	0	5008	,	,		20131	0		0	False		,,,				2504	0.001					uc021sia.1																			1	Substitution - Missense(1)	p.R1260W(1)	NS(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3895-3897)Cgg>Tgg		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.		G	TRP/ARG	1,4169		0,1,2084	91	92	91		3778	0.4	0	15		91	0,8420		0,0,4210	no	missense	TRPM1	NM_002420.4	101	0,1,6294	AA,AG,GG		0.0,0.024,0.0079	probably-damaging	1260/1604	31295059	1,12589	2085	4210	6295	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31295059G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3844C>T	15.37:g.31295059G>A	ENSP00000256552:p.Arg1282Trp					TRPM1_uc010azy.3_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1282W|TRPM1_uc001zfm.3_Missense_Mutation_p.R1260W	p.R1299W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	4209	-		all_lung(180;1.92e-11)	1260						Missense_Mutation	SNP	ENST00000256552.6	37	c.3895C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611055	0.28712	2.4E-4	0.0	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.70869	-0.52;-0.52;-0.52	5.2	0.427	0.16489	.	0.056537	0.64402	D	0.000001	T	0.75125	0.3807	M	0.76838	2.35	0.25845	N	0.984012	P;P	0.38922	0.56;0.651	B;B	0.41088	0.347;0.081	T	0.73675	-0.3908	10	0.87932	D	0	-17.0895	20.7912	0.99721	0.0:0.0:0.8192:0.1808	.	1254;1260	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	1260;1299;1282;1260	ENSP00000380897:R1260W;ENSP00000437849:R1299W;ENSP00000256552:R1282W	ENSP00000256552:R1282W	R	-	1	2	TRPM1	29082351	0.005000	0.15991	0.004000	0.12327	0.165000	0.22458	0.131000	0.15870	-0.164000	0.10927	-0.271000	0.10264	CGG		0.473	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31295059	G	A	31295059	3	1	155	1	0	0	0	0	1	0	0	0	16582	1115	39	2	1037	2	TRPM1	15	31295059	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		31295059	71236333	68	10910											
FBXL16	146330	broad.mit.edu	37	chr16	745854	745854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggctggaccacagccCggcctcggtgaagtcgttgc	6	7	14	14	3	1	1	1	1	0	0	3	2	1	2	3	4	2	3	3	4	1	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:745854C>T	ENST00000397621.1	-	3	1034	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	FBXL16_ENST00000324361.5_Missense_Mutation_p.G235R|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Missense_Mutation_p.G23R	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	235										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GACCACAGCCCGGCCTCGGTG	0.672																																						uc021taa.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(703-705)Ggg>Agg		Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.							28	28	28					16																	745854		2199	4288	6487	SO:0001583	missense	146330							g.chr16:745854C>T	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.703G>A	16.37:g.745854C>T	ENSP00000380746:p.Gly235Arg					FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Missense_Mutation_p.G23R	p.G235R	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			2	1031	-		Hepatocellular(780;0.0218)	235					B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.703G>A	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	c	19.67	3.871664	0.72065	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.18502	2.21;2.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.56878	-0.7906	10	0.87932	D	0	.	16.7252	0.85419	0.0:1.0:0.0:0.0	.	235	Q8N461	FXL16_HUMAN	R	235	ENSP00000380746:G235R;ENSP00000318674:G235R	ENSP00000318674:G235R	G	-	1	0	FBXL16	685855	1.000000	0.71417	0.793000	0.32043	0.960000	0.62799	4.721000	0.61951	2.529000	0.85273	0.561000	0.74099	GGG		0.672	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		T	745854	C	T	745854	3	4	155	1	0	0	0	0	1	0	0	0	5712	652	23	2	752	2	FBXL16	16	745854	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		745854	89608899	69	10911											
CHTF18	63922	broad.mit.edu	37	chr16	839297	839297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagccgccccctcccgactCctcgccgacggacatcaccc	6	4	9	22	5	1	0	1	0	0	0	4	4	3	2	7	2	1	0	7	2	0	0	rs201869235	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:839297C>G	ENST00000262315.9	+	3	437	c.374C>G	c.(373-375)tCc>tGc	p.S125C	CHTF18_ENST00000317063.6_Missense_Mutation_p.S322C|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000455171.2_Missense_Mutation_p.S153C|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	125					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTCCCGACTCCTCGCCGACG	0.662																																						uc002ckf.4																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(457-459)tCc>tGc		Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.							12	17	15					16																	839297		1928	4092	6020	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:839297C>G	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.374C>G	16.37:g.839297C>G	ENSP00000262315:p.Ser125Cys					RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S125C|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron	p.S153C	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			1	521	+		Hepatocellular(780;0.00335)	125					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.458C>G	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340480	0.60963	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.11821	2.74;2.83;2.81	5.07	3.12	0.35913	.	6.300880	0.00567	N	0.000299	T	0.33962	0.0881	L	0.60455	1.87	0.09310	N	1	D;D;D	0.69078	0.997;0.993;0.983	P;P;P	0.62740	0.906;0.8;0.533	T	0.03993	-1.0986	10	0.59425	D	0.04	-13.2965	8.6383	0.33962	0.0:0.7459:0.0:0.2541	.	125;153;125	B4DEY3;Q8WVB6-2;Q8WVB6	.;.;CTF18_HUMAN	C	322;153;125	ENSP00000313029:S322C;ENSP00000406252:S153C;ENSP00000262315:S125C	ENSP00000262315:S125C	S	+	2	0	CHTF18	779298	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.025000	0.12413	0.546000	0.28920	0.511000	0.50034	TCC		0.662	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	839297	C	G	839297	3	3	155	1	0	0	0	0	1	0	0	0	3414	855	30	5	384	5	CHTF18	16	839297	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	93443	839297	89515456	70	10912											
GP2	2813	broad.mit.edu	37	chr16	20328646	20328646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgagaaccggctttccgaGgactgcccattctcctccac	8	9	8	16	2	1	1	0	1	1	1	4	4	3	2	5	2	2	1	5	2	1	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:20328646G>T	ENST00000381362.4	-	9	1390	c.1314C>A	c.(1312-1314)tcC>tcA	p.S438S	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Silent_p.S291S|GP2_ENST00000341642.5_Silent_p.S288S|GP2_ENST00000302555.5_Silent_p.S435S	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	438	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCTTTCCGAGGACTGCCCAT	0.468																																						uc002dgv.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1312-1314)tcC>tcA		Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.							111	88	96					16																	20328646		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20328646G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1314C>A	16.37:g.20328646G>T						GP2_uc002dgw.3_Silent_p.S435S|GP2_uc002dgx.3_Silent_p.S291S|GP2_uc002dgy.3_Silent_p.S288S	p.S438S	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1397	-			438			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.1314C>A	CCDS42128.1																																																																																				0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		T	20328646	G	T	20328646	2	4	155	1	0	0	0	0	0	0	0	1	6582	987	35	5		5	GP2	16	20328646	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	19489349	20328646	70026107	71	10913											
DNAH3	55567	broad.mit.edu	37	chr16	21053361	21053361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatttaccttgagattgtcGggcagttcagccctgccagc	7	11	11	12	1	1	1	1	1	0	1	2	2	1	1	3	1	4	3	3	1	1	5	rs150869091	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:21053361G>A	ENST00000261383.3	-	32	4625	c.4626C>T	c.(4624-4626)ccC>ccT	p.P1542P	DNAH3_ENST00000415178.1_Silent_p.P1542P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1542	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAGATTGTCGGGCAGTTCAG	0.512																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4624-4626)ccC>ccT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							95	87	89					16																	21053361		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21053361G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4626C>T	16.37:g.21053361G>A							p.P1542P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	31	4626	-			1542			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4626C>T	CCDS10594.1																																																																																				0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21053361	G	A	21053361	2	1	155	1	0	0	0	0	0	0	0	1	4603	1103	39	2		2	DNAH3	16	21053361	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	724715	21053361	69301392	72	10914											
ZNF423	23090	broad.mit.edu	37	chr16	49671646	49671646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagatgttgccaaactGcatcacagggtaggcatggt	11	8	14	8	0	1	1	1	0	0	1	1	2	1	1	1	4	3	5	1	4	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:49671646G>C	ENST00000561648.1	-	4	1470	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	ZNF423_ENST00000567169.1_Missense_Mutation_p.Q356E|ZNF423_ENST00000535559.1_Missense_Mutation_p.Q356E|ZNF423_ENST00000562520.1_Missense_Mutation_p.Q413E|ZNF423_ENST00000562871.1_Missense_Mutation_p.Q413E|ZNF423_ENST00000563137.2_Missense_Mutation_p.Q413E|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q473E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	473					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGCCAAACTGCATCACAGGG	0.577																																						uc002efs.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1417-1419)Cag>Gag		Homo sapiens zinc finger protein 423 (ZNF423), mRNA.							145	119	128					16																	49671646		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671646G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1417C>G	16.37:g.49671646G>C	ENSP00000455426:p.Gln473Glu					ZNF423_uc010vgn.2_Missense_Mutation_p.Q356E	p.Q473E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	1715	-		all_cancers(37;0.0155)	473					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1417C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.368679	0.01225	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08008	3.14;3.2	4.96	4.96	0.65561	.	0.119123	0.64402	D	0.000014	T	0.07324	0.0185	N	0.24115	0.695	0.41185	D	0.986261	B	0.26120	0.142	B	0.22386	0.039	T	0.38023	-0.9680	9	.	.	.	.	18.2176	0.89892	0.0:0.0:1.0:0.0	.	473	Q2M1K9	ZN423_HUMAN	E	473;356	ENSP00000262383:Q473E;ENSP00000442321:Q356E	.	Q	-	1	0	ZNF423	48229147	1.000000	0.71417	0.991000	0.47740	0.759000	0.43091	7.645000	0.83430	2.298000	0.77334	0.561000	0.74099	CAG		0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		C	49671646	G	C	49671646	3	2	155	1	0	0	0	0	1	0	0	0	17895	1328	46	5	2457	5	ZNF423	16	49671646	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	28618285	49671646	40683107	73	10915											
OR1D2	4991	broad.mit.edu	37	chr17	2995386	2995386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtgtttatctaggagtCttcccagagccccatgcatg	10	12	9	10	0	2	1	0	0	2	1	3	2	3	2	3	1	2	2	3	1	4	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:2995386C>A	ENST00000331459.1	-	1	904	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	302					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463																																						uc010vrb.2																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(904-906)aGa>aTa		Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.							132	127	129					17																	2995386		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995386C>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.905G>T	17.37:g.2995386C>A	ENSP00000327585:p.Arg302Ile						p.R302I	NM_002548	NP_002539	P34982	OR1D2_HUMAN			0	905	-			302					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.905G>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	13.16	2.153891	0.38021	.	.	ENSG00000184166	ENST00000331459	T	0.41065	1.01	3.21	-1.42	0.08913	.	.	.	.	.	T	0.49321	0.1550	M	0.89478	3.035	0.09310	N	1	P	0.49961	0.93	P	0.47015	0.534	T	0.46091	-0.9216	9	0.59425	D	0.04	.	5.1861	0.15185	0.0:0.3175:0.1581:0.5243	.	302	P34982	OR1D2_HUMAN	I	302	ENSP00000327585:R302I	ENSP00000327585:R302I	R	-	2	0	OR1D2	2942136	0.004000	0.15560	0.577000	0.28562	0.839000	0.47603	-0.029000	0.12329	-0.171000	0.10797	-0.324000	0.08512	AGA		0.463	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		A	2995386	C	A	2995386	3	1	155	1	0	0	0	0	1	0	0	0	10953	913	32	5	36	5	OR1D2	17	2995386	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		2995386	78199824	74	10916											
NF1	4763	broad.mit.edu	37	chr17	29508439	29508439	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaaattgtgttttttccaGaaacagcatttaaatttaaa	17	16	4	4	0	0	1	0	0	0	1	1	1	1	1	1	0	2	2	1	0	8	9			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:29508439G>A	ENST00000358273.4	+	6	969		c.e6-1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTTCCAGAAACAGCATT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS086350	NF1	S		c.e6-1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							40	44	42					17																	29508439		2196	4290	6486	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508439G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.587-1G>A	17.37:g.29508439G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	p.E196_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	6	970	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	196					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.587_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856527	0.71834	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.151	0.93488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532565	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	8.675000	0.91195	2.516000	0.84829	0.591000	0.81541	.		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	A	29508439	G	A	29508439	5	1	155	1	0	0	0	0	0	0	1	0	10356	956	33	3	608	3	NF1	17	29508439	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	26513053	29508439	51686771	75	10917											
WNT9B	7484	broad.mit.edu	37	chr17	44949992	44949992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgaagctgtcccggCggcagaagcagctctgccgg	7	6	14	14	3	1	2	0	1	1	1	2	2	2	2	3	3	5	5	3	3	2	0	rs566511950		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:44949992C>T	ENST00000290015.2	+	2	240	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	WNT9B_ENST00000393461.2_Missense_Mutation_p.R63W	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	63					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGTCCCGGCGGCAGAAGCA	0.682													C|||	1	0.000199681	0	0.0014	5008	,	,		14015	0		0	False		,,,				2504	0					uc002ikw.1																			0				large_intestine(2)|lung(8)	10						c.(187-189)Cgg>Tgg		Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.							28	34	32					17																	44949992		2202	4296	6498	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44949992C>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.187C>T	17.37:g.44949992C>T	ENSP00000290015:p.Arg63Trp					WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	p.R63W	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		1	224	+			63					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.187C>T	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608466	0.46527	.	.	ENSG00000158955	ENST00000393461;ENST00000290015	T;T	0.77229	-1.08;-1.08	4.48	2.27	0.28462	.	0.339051	0.29066	N	0.013241	T	0.75554	0.3865	M	0.86268	2.805	0.48185	D	0.9996	B;B	0.17465	0.022;0.003	B;B	0.15484	0.013;0.001	T	0.71626	-0.4536	9	.	.	.	.	8.0762	0.30718	0.2139:0.6946:0.0:0.0915	.	63;63	E7EPC3;O14905	.;WNT9B_HUMAN	W	63	ENSP00000377105:R63W;ENSP00000290015:R63W	.	R	+	1	2	WNT9B	42304991	0.914000	0.31030	1.000000	0.80357	0.996000	0.88848	1.791000	0.38744	1.213000	0.43380	0.455000	0.32223	CGG		0.682	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		T	44949992	C	T	44949992	3	4	155	1	0	0	0	0	1	0	0	0	17396	759	27	1	193	1	WNT9B	17	44949992	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	15441553	44949992	36245218	76	10918											
IGF2BP1	10642	broad.mit.edu	37	chr17	47118832	47118832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgaagaaggtagagcAagataccgagacaaaaatca	20	4	10	7	1	1	5	1	1	0	4	1	7	1	5	2	1	3	2	2	1	8	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:47118832A>C	ENST00000290341.3	+	8	1245	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q165P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	304	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGTAGAGCAAGATACCGAG	0.498																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(910-912)cAa>cCa		Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.							152	139	143					17																	47118832		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47118832A>C	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.911A>C	17.37:g.47118832A>C	ENSP00000290341:p.Gln304Pro					IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q165P	p.Q304P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			7	1245	+			304			KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.911A>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853636	0.91355	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33216	1.42;1.42	5.2	5.2	0.72013	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.83603	2.65	0.80722	D	1	P;P	0.52842	0.845;0.956	P;P	0.59825	0.847;0.864	T	0.63139	-0.6704	10	0.87932	D	0	-22.1429	15.0228	0.71643	1.0:0.0:0.0:0.0	.	165;304	C9JT33;Q9NZI8	.;IF2B1_HUMAN	P	304;165	ENSP00000290341:Q304P;ENSP00000389135:Q165P	ENSP00000290341:Q304P	Q	+	2	0	IGF2BP1	44473831	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.255000	0.95524	2.102000	0.63906	0.533000	0.62120	CAA		0.498	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		C	47118832	A	C	47118832	3	2	155	1	0	0	0	0	1	0	0	0	7573	130	5	5	941	5	IGF2BP1	17	47118832	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	2168840	47118832	34076378	77	10919											
SDK2	54549	broad.mit.edu	37	chr17	71418469	71418469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttccccacgtcgttgaCggcacaaagacggaactggt	9	9	10	13	4	0	2	0	1	0	1	3	3	2	3	3	3	1	2	3	3	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:71418469C>T	ENST00000392650.3	-	15	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	SDK2_ENST00000388726.3_Missense_Mutation_p.V668I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	668	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACGTCGTTGACGGCACAAAGA	0.617																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2002-2004)Gtc>Atc		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							145	117	127					17																	71418469		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71418469C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2002G>A	17.37:g.71418469C>T	ENSP00000376421:p.Val668Ile					SDK2_uc010dfn.2_Missense_Mutation_p.V347I	p.V668I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			14	2002	-			668			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2002G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161112	0.78226	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.61627	0.09;0.09	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.58736	0.2143	M	0.62209	1.925	0.58432	D	0.999996	P;P	0.42456	0.78;0.463	B;B	0.42214	0.38;0.308	T	0.57201	-0.7852	10	0.22109	T	0.4	.	18.1572	0.89696	0.0:1.0:0.0:0.0	.	668;668	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	292;668;668;668	ENSP00000376421:V668I;ENSP00000373378:V668I	ENSP00000324967:V668I	V	-	1	0	SDK2	68930064	1.000000	0.71417	0.981000	0.43875	0.924000	0.55760	5.719000	0.68462	2.373000	0.80994	0.462000	0.41574	GTC		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71418469	C	T	71418469	3	4	155	1	0	0	0	0	1	0	0	0	13969	536	19	1	4640	1	SDK2	17	71418469	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	24299637	71418469	9776741	78	10920											
LAMA1	284217	broad.mit.edu	37	chr18	6999962	6999962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcgtcacaacggaaatCgtggtccccttccaagacac	12	6	9	14	3	1	1	1	0	0	1	4	2	3	2	3	3	1	0	3	3	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:6999962C>T	ENST00000389658.3	-	31	4510	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1473	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAACGGAAATCGTGGTCCCCT	0.423																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4417-4419)Gat>Aat		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						77	68	71					18																	6999962		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999962C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4417G>A	18.37:g.6999962C>T	ENSP00000374309:p.Asp1473Asn					LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	p.D1473N	NM_005559	NP_005550	P25391	LAMA1_HUMAN			30	4511	-		Colorectal(10;0.172)	1473			Laminin EGF-like 16.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4417G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327862	0.41197	.	.	ENSG00000101680	ENST00000389658	T	0.61158	0.13	5.43	3.67	0.42095	EGF-like, laminin (3);	0.191472	0.42821	N	0.000643	T	0.55721	0.1938	L	0.52364	1.645	0.42989	D	0.994482	D	0.57257	0.979	P	0.49252	0.604	T	0.51585	-0.8687	10	0.13108	T	0.6	.	13.8531	0.63510	0.0:0.9086:0.0:0.0914	.	1473	P25391	LAMA1_HUMAN	N	1473	ENSP00000374309:D1473N	ENSP00000374309:D1473N	D	-	1	0	LAMA1	6989962	0.982000	0.34865	0.008000	0.14137	0.023000	0.10783	2.781000	0.47750	0.691000	0.31592	-0.726000	0.03593	GAT		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6999962	C	T	6999962	3	4	155	1	0	0	0	0	1	0	0	0	8605	884	31	2	4942	2	LAMA1	18	6999962	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		6999962	71077286	79	10921											
RIOK3	8780	broad.mit.edu	37	chr18	21043044	21043044	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtttttcctgaagttgcGtaagtaaaattcacaaatac	13	13	7	8	2	1	1	1	1	0	0	2	1	2	1	2	0	2	4	2	0	6	7	rs373422920		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:21043044G>A	ENST00000339486.3	+	2	796		c.e2+1		RIOK3_ENST00000581585.1_Splice_Site|RIOK3_ENST00000577501.1_Splice_Site	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3						chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGAAGTTGCGTAAGTAAAAT	0.363																																						uc002kui.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.e2+1		Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	108	106	107			5.7	1	18		107	0,8600		0,0,4300	no	splice-5	RIOK3	NM_003831.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			21043044	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21043044G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.179+1G>A	18.37:g.21043044G>A						RIOK3_uc010dls.3_Splice_Site_p.A60_splice|RIOK3_uc010xas.2_Splice_Site_p.A60_splice	p.A60_splice	NM_003831	NP_003822	O14730	RIOK3_HUMAN			2	796	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		60					Q8IXN9	Splice_Site	SNP	ENST00000339486.3	37	c.179_splice	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627788	0.66901	2.27E-4	0.0	ENSG00000101782	ENST00000339486	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9283	0.97112	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIOK3	19297042	1.000000	0.71417	0.966000	0.40874	0.708000	0.40852	5.957000	0.70323	2.708000	0.92522	0.585000	0.79938	.		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831	Intron	A	21043044	G	A	21043044	5	1	155	1	0	0	0	0	0	0	1	0	13379	1159	40	1	186	1	RIOK3	18	21043044	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	14043082	21043044	57034204	80	10922											
DOCK6	57572	broad.mit.edu	37	chr19	11353971	11353971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagttagcgtggctggaCggaagccagagaagctgcag	11	6	16	8	2	0	2	0	1	0	1	0	5	0	4	1	3	4	4	1	3	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:11353971C>T	ENST00000294618.7	-	12	1360	c.1349G>A	c.(1348-1350)cGt>cAt	p.R450H		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	450					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGTGGCTGGACGGAAGCCAGA	0.677											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mqs.4																			0		p.R450C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1348-1350)cGt>cAt		Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.							23	28	27					19																	11353971		1981	4145	6126	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11353971C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1349G>A	19.37:g.11353971C>T	ENSP00000294618:p.Arg450His		OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671		p.R450H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			11	1390	-			450					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1349G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991010	0.93106	.	.	ENSG00000130158	ENST00000294618	T	0.38077	1.16	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70850	-0.4760	10	0.87932	D	0	-23.5216	15.2295	0.73374	0.0:1.0:0.0:0.0	.	450	Q96HP0	DOCK6_HUMAN	H	450	ENSP00000294618:R450H	ENSP00000294618:R450H	R	-	2	0	DOCK6	11214971	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.068000	0.76748	1.861000	0.53984	0.462000	0.41574	CGT		0.677	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		T	11353971	C	T	11353971	3	4	155	1	0	0	0	0	1	0	0	0	4691	536	19	1	4942	1	DOCK6	19	11353971	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		11353971	47775012	81	10923											
OR7A10	390892	broad.mit.edu	37	chr19	14952342	14952342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccggtcataggccatcacGgtcagaaggaagttatccaa	14	7	10	10	2	3	1	3	0	0	1	4	2	4	2	3	4	1	1	3	4	6	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:14952342G>A	ENST00000248058.1	-	1	347	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGCCATCACGGTCAGAAGGA	0.483																																						uc002mzx.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(346-348)acC>acT		Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.							105	90	95					19																	14952342		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952342G>A		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.348C>T	19.37:g.14952342G>A							p.T116T	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			0	348	-	Ovarian(108;0.203)		116					Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.348C>T	CCDS32936.1																																																																																				0.483	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		A	14952342	G	A	14952342	2	1	155	1	0	0	0	0	0	0	0	1	11214	1103	39	2		2	OR7A10	19	14952342	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	3598371	14952342	44176641	82	10924											
FCGBP	8857	broad.mit.edu	37	chr19	40364217	40364217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctcacactcagggcccgGgtagaagacctcgcccagtg	8	5	12	16	3	2	2	2	0	0	2	3	2	2	2	4	2	0	2	4	2	2	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:40364217G>A	ENST00000221347.6	-	31	14432	c.14425C>T	c.(14425-14427)Ccg>Tcg	p.P4809S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4809						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGGGCCCGGGTAGAAGACC	0.657																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14425-14427)Ccg>Tcg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							35	37	36					19																	40364217		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364217G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14425C>T	19.37:g.40364217G>A	ENSP00000221347:p.Pro4809Ser						p.P4809S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14433	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4809					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14425C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.307	1.054507	0.19907	.	.	ENSG00000090920	ENST00000221347	T	0.03580	3.88	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000001	T	0.20047	0.0482	M	0.88704	2.975	0.34489	D	0.704716	D	0.76494	0.999	D	0.75484	0.986	T	0.42189	-0.9466	10	0.09843	T	0.71	.	17.511	0.87760	0.0:0.0:1.0:0.0	.	4809	Q9Y6R7	FCGBP_HUMAN	S	4809	ENSP00000221347:P4809S	ENSP00000221347:P4809S	P	-	1	0	FCGBP	45056057	1.000000	0.71417	0.998000	0.56505	0.315000	0.28087	1.472000	0.35376	2.520000	0.84964	0.313000	0.20887	CCG		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40364217	G	A	40364217	3	1	155	1	0	0	0	0	1	0	0	0	5778	1232	43	3	1816	3	FCGBP	19	40364217	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	25411875	40364217	18764766	83	10925											
EML2	24139	broad.mit.edu	37	chr19	46112931	46112931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgcatcagaccaccCgccactgtagcacactggtg	8	6	10	17	2	1	1	1	0	0	1	1	1	1	1	5	2	1	3	5	2	1	1	rs190700619	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:46112931C>T	ENST00000245925.3	-	19	1990	c.1940G>A	c.(1939-1941)cGg>cAg	p.R647Q	EML2_ENST00000587152.1_Missense_Mutation_p.R848Q|EML2_ENST00000589876.1_Intron|EML2_ENST00000536630.1_Missense_Mutation_p.R794Q	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	647	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCAGACCACCCGCCACTGTAG	0.537													C|||	6	0.00119808	0	0	5008	,	,		15532	0.001		0	False		,,,				2504	0.0051					uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(2542-2544)cGg>cAg		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.							103	82	89					19																	46112931		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46112931C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1940G>A	19.37:g.46112931C>T	ENSP00000245925:p.Arg647Gln					EML2_uc002pcn.3_Missense_Mutation_p.R647Q|EML2_uc002pcp.3_Missense_Mutation_p.R531Q|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R794Q	p.R848Q	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	21	2616	-		Ovarian(192;0.179)|all_neural(266;0.224)	647					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.2543G>A	CCDS12670.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.5	4.002238	0.74932	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.29917	1.55;2.78	5.18	4.12	0.48240	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.372457	0.26951	N	0.021675	T	0.36963	0.0986	M	0.61387	1.9	0.26680	N	0.971551	D;D;D	0.61697	0.99;0.964;0.983	P;B;P	0.50896	0.567;0.232;0.653	T	0.17992	-1.0351	10	0.33141	T	0.24	-32.8719	9.8807	0.41231	0.0:0.9048:0.0:0.0952	.	813;794;647	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	Q	794;647;805	ENSP00000442365:R794Q;ENSP00000245925:R647Q	ENSP00000245925:R647Q	R	-	2	0	EML2	50804771	0.998000	0.40836	1.000000	0.80357	0.917000	0.54804	1.150000	0.31639	2.700000	0.92200	0.462000	0.41574	CGG		0.537	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		T	46112931	C	T	46112931	3	4	155	1	0	0	0	0	1	0	0	0	5097	652	23	2	13	2	EML2	19	46112931	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	5748714	46112931	13016052	84	10926											
ELSPBP1	64100	broad.mit.edu	37	chr19	48525436	48525436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctaggaatttccgCgttggtccctggctttcctt	3	16	9	13	2	0	0	0	0	0	0	4	1	4	1	4	3	1	3	4	3	2	6			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:48525436C>T	ENST00000339841.2	+	6	702	c.524C>T	c.(523-525)gCg>gTg	p.A175V	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.A27V	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	175					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGAATTTCCGCGTTGGTCCCT	0.453																																						uc002pht.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(523-525)gCg>gTg		Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.							209	180	190					19																	48525436		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48525436C>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.524C>T	19.37:g.48525436C>T	ENSP00000340660:p.Ala175Val						p.A175V	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	5	702	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	175					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.524C>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058394	0.19987	.	.	ENSG00000169393	ENST00000339841	T	0.31769	1.48	3.0	3.0	0.34707	Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);	0.845013	0.09913	N	0.739541	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.22541	0.071	B	0.09377	0.004	T	0.08700	-1.0709	10	0.30854	T	0.27	.	12.2173	0.54414	0.0:1.0:0.0:0.0	.	175	Q96BH3	ESPB1_HUMAN	V	175	ENSP00000340660:A175V	ENSP00000340660:A175V	A	+	2	0	ELSPBP1	53217248	0.010000	0.17322	0.005000	0.12908	0.069000	0.16628	0.951000	0.29135	1.968000	0.57251	0.609000	0.83330	GCG		0.453	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			T	48525436	C	T	48525436	3	4	155	1	0	0	0	0	1	0	0	0	5083	768	27	1	542	1	ELSPBP1	19	48525436	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	2412505	48525436	10603547	85	10927											
PROKR2	128674	broad.mit.edu	37	chr20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggggaagaagtcacgaaCgatggtgaaaccgtagaagg	15	5	16	5	3	1	3	1	1	0	2	1	6	1	4	1	4	2	1	1	4	6	1	rs139399061	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:5282952C>T	ENST00000217270.3	-	2	888	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_ENST00000546004.1_Missense_Mutation_p.V297I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	297					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)																												uc010zqw.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(889-891)Gtt>Att		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.		C	ILE/VAL	0,4406		0,0,2203	148	111	124		889	4.1	1	20	dbSNP_134	124	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PROKR2	NM_144773.2	29	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	297/385	5282952	10,12996	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282952C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.889G>A	20.37:g.5282952C>T	ENSP00000217270:p.Val297Ile	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	897	-			297					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.889G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375503	0.42105	0.0	0.001163	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37235	1.21;1.21	5.05	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.204797	0.42682	N	0.000680	T	0.34687	0.0906	L	0.31804	0.96	0.38139	D	0.938404	D	0.63880	0.993	P	0.51895	0.683	T	0.15780	-1.0425	10	0.33141	T	0.24	.	11.1459	0.48430	0.0:0.9089:0.0:0.0911	.	297	Q8NFJ6	PKR2_HUMAN	I	297	ENSP00000440790:V297I;ENSP00000217270:V297I	ENSP00000217270:V297I	V	-	1	0	PROKR2	5230952	0.903000	0.30736	1.000000	0.80357	0.963000	0.63663	1.584000	0.36589	1.132000	0.42129	0.655000	0.94253	GTT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5282952	C	T	5282952	3	4	155	1	0	0	0	0	1	0	0	0	12553	536	19	1	268	1	PROKR2	20	5282952	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		5282952	57742568	86	10928											
SYCP2	10388	broad.mit.edu	37	chr20	58489299	58489299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaatgcctacctgtaaGtcataatctattaaaaaaat	17	13	3	8	0	3	0	1	0	2	0	3	0	3	0	2	0	3	1	2	0	10	6			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:58489299G>T	ENST00000357552.3	-	11	867	c.642C>A	c.(640-642)gaC>gaA	p.D214E	SYCP2_ENST00000371001.2_Missense_Mutation_p.D214E			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	214					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTACCTGTAAGTCATAATCTA	0.289																																						uc002yaz.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(640-642)gaC>gaA		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							63	59	60					20																	58489299		2201	4293	6494	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489299G>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.642C>A	20.37:g.58489299G>T	ENSP00000350162:p.Asp214Glu					SYCP2_uc010gju.1_Missense_Mutation_p.D115E	p.D214E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		9	781	-	all_lung(29;0.00344)		214					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.642C>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950164	0.34377	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04360	3.64;3.64;3.64	5.1	-0.453	0.12201	.	0.180249	0.38548	N	0.001647	T	0.03564	0.0102	L	0.37750	1.13	0.26180	N	0.979734	B;P	0.41450	0.197;0.75	B;B	0.39152	0.062;0.292	T	0.39187	-0.9626	10	0.40728	T	0.16	-8.4436	5.0747	0.14625	0.4461:0.0:0.4124:0.1415	.	214;214	A2A341;Q9BX26	.;SYCP2_HUMAN	E	214	ENSP00000360040:D214E;ENSP00000350162:D214E;ENSP00000402456:D214E	ENSP00000350162:D214E	D	-	3	2	SYCP2	57922694	0.994000	0.37717	0.997000	0.53966	0.996000	0.88848	0.306000	0.19279	-0.008000	0.14320	0.655000	0.94253	GAC		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58489299	G	T	58489299	3	4	155	1	0	0	0	0	1	0	0	0	15429	1020	36	5	4090	5	SYCP2	20	58489299	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	53206347	58489299	4536221	87	10929											
ARFGAP1	55738	broad.mit.edu	37	chr20	61907550	61907550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcttggggttcacctCaggtcagtgtcctgccgctc	3	10	14	14	3	3	0	3	0	0	0	5	0	4	0	3	4	1	3	3	4	0	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:61907550C>A	ENST00000370283.4	+	3	308	c.168C>A	c.(166-168)ctC>ctA	p.L56L	ARFGAP1_ENST00000370275.4_Silent_p.L56L|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000353546.3_Silent_p.L56L	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	56	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGTTCACCTCAGGTCAGTGT	0.642																																						uc002yem.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(166-168)ctC>ctA		Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.							62	57	59					20																	61907550		2203	4300	6503	SO:0001819	synonymous_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907550C>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.168C>A	20.37:g.61907550C>A						ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Silent_p.L56L|ARFGAP1_uc002yen.3_Silent_p.L56L	p.L56L	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			2	280	+	all_cancers(38;1.59e-09)		56			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	c.168C>A	CCDS13515.1																																																																																				0.642	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		A	61907550	C	A	61907550	2	1	155	1	0	0	0	0	0	0	0	1	849	813	29	5		5	ARFGAP1	20	61907550	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	3418251	61907550	1117970	88	10930											
KLHL13	90293	broad.mit.edu	37	chrX	117043736	117043736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttctcatgaaatccacCgtttgcacgtaattaatgag	12	13	7	9	2	2	2	2	2	1	0	4	2	3	2	2	0	1	4	2	0	3	4	rs377195610		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chrX:117043736C>T	ENST00000262820.3	-	5	1803	c.894G>A	c.(892-894)acG>acA	p.T298T	KLHL13_ENST00000371878.1_Silent_p.T247T|KLHL13_ENST00000371876.1_Silent_p.T247T|KLHL13_ENST00000545703.1_Silent_p.T256T|KLHL13_ENST00000469946.1_Silent_p.T247T|KLHL13_ENST00000541812.1_Silent_p.T282T|KLHL13_ENST00000540167.1_Silent_p.T282T|KLHL13_ENST00000539496.1_Silent_p.T301T|KLHL13_ENST00000371882.1_Silent_p.T247T	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	298					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAAATCCACCGTTTGCACGT	0.423																																						uc011mtp.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(901-903)acG>acA		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.		C	,,,,,	0,3835		0,0,0,1632,571	118	97	104		903,876,846,846,768,894	-8.3	0	X		104	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLHL13	NM_001168299.1,NM_001168300.1,NM_001168301.1,NM_001168302.1,NM_001168303.1,NM_033495.3	,,,,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,,,,	301/659,292/650,282/640,282/640,256/614,298/656	117043736	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043736C>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.894G>A	X.37:g.117043736C>T						KLHL13_uc004eqk.3_Silent_p.T247T|KLHL13_uc004eql.3_Silent_p.T298T|KLHL13_uc011mtn.2_Silent_p.T138T|KLHL13_uc011mto.2_Silent_p.T292T|KLHL13_uc011mtq.2_Silent_p.T282T|KLHL13_uc004eqm.3_Silent_p.T256T|KLHL13_uc022cde.1_Silent_p.T282T	p.T301T	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			5	1036	-			298					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.903G>A	CCDS14571.1																																																																																				0.423	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117043736	C	T	117043736	2	4	155	1	0	0	0	0	0	0	0	1	8369	639	23	2		2	KLHL13	23	117043736	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08		117043736	38226824	89	10931											
TAS1R1	80835	broad.mit.edu	37	chr1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacctcttccaggctatgCggcttggggttgaggagata	8	10	13	10	1	1	2	0	1	1	1	2	3	2	2	3	5	1	3	3	5	2	5	rs199550568	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532													C|||	2	0.000399361	0	0.0014	5008	,	,		20054	0		0	False		,,,				2504	0.001					uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(238-240)Cgg>Tgg		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	124	128		238,238	1.7	0.9	1		128	0,8600		0,0,4300	no	missense,missense	TAS1R1	NM_138697.3,NM_177540.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/842,80/588	6631015	1,13005	2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6631015C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.238C>T	1.37:g.6631015C>T	ENSP00000331867:p.Arg80Trp					TAS1R1_uc001anu.3_Missense_Mutation_p.R80W|TAS1R1_uc021ofp.1_Missense_Mutation_p.R2W	p.R80W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	1	334	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	80					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.238C>T	CCDS81.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.31	2.496650	0.44352	2.27E-4	0.0	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	D;D;D	0.83992	-1.79;-1.79;-1.79	5.08	1.71	0.24356	Extracellular ligand-binding receptor (1);	0.129993	0.49916	D	0.000139	D	0.90546	0.7037	M	0.85041	2.73	0.36559	D	0.872319	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.91635	0.999;0.992;0.897;0.999	D	0.92403	0.5931	10	0.66056	D	0.02	.	12.478	0.55825	0.5223:0.4777:0.0:0.0	.	80;80;80;80	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	W	80;80;2;80	ENSP00000331867:R80W;ENSP00000327705:R80W;ENSP00000312558:R80W	ENSP00000327705:R80W	R	+	1	2	TAS1R1	6553602	0.584000	0.26766	0.906000	0.35671	0.335000	0.28730	0.314000	0.19432	0.497000	0.27926	-0.158000	0.13435	CGG		0.532	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			T	6631015	C	T	6631015	3	4	156	1	0	0	0	0	1	0	0	0	15559	759	27	1	244	1	TAS1R1	1	6631015	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		6631015	242619606	1	10932											
RERE	473	broad.mit.edu	37	chr1	8419927	8419927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttctgctcagcctcgCgcttggccttctcaatggcc	3	12	11	15	2	3	0	2	0	2	0	5	0	3	0	3	3	2	3	3	3	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:8419927C>T	ENST00000337907.3	-	20	4149	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	RERE_ENST00000400908.2_Missense_Mutation_p.R1172H|RERE_ENST00000377464.1_Missense_Mutation_p.R904H|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.R618H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1172					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGCCTCGCGCTTGGCCTT	0.662																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3514-3516)cGc>cAc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							53	54	53					1																	8419927		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8419927C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3515G>A	1.37:g.8419927C>T	ENSP00000338629:p.Arg1172His					RERE_uc001apf.3_Missense_Mutation_p.R1172H|RERE_uc001apd.3_Missense_Mutation_p.R618H	p.R1172H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	4325	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1172					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3515G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952077	0.73787	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.42	5.42	0.78866	.	.	.	.	.	T	0.42698	0.1214	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.68943	0.961	T	0.31392	-0.9945	9	0.72032	D	0.01	-10.7748	18.1999	0.89834	0.0:1.0:0.0:0.0	.	1172	Q9P2R6	RERE_HUMAN	H	1172;904;618;1172	ENSP00000338629:R1172H;ENSP00000366684:R904H;ENSP00000422246:R618H;ENSP00000383700:R1172H	ENSP00000338629:R1172H	R	-	2	0	RERE	8342514	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	7.421000	0.80204	2.520000	0.84964	0.655000	0.94253	CGC		0.662	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8419927	C	T	8419927	3	4	156	1	0	0	0	0	1	0	0	0	13231	768	27	1	1205	1	RERE	1	8419927	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1788912	8419927	240830694	2	10933											
HTR6	3362	broad.mit.edu	37	chr1	19992747	19992747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctgctgggctggcaCgagctgggccacgcacggcc	4	5	15	17	3	0	0	0	0	0	0	0	1	0	0	4	4	3	6	4	4	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:19992747C>T	ENST00000289753.1	+	1	968	c.501C>T	c.(499-501)caC>caT	p.H167H		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	167					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TGGGCTGGCACGAGCTGGGCC	0.711																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.3																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(499-501)caC>caT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29	30	30					1																	19992747		2200	4295	6495	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992747C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.501C>T	1.37:g.19992747C>T							p.H167H	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	0	968	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	167					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.501C>T	CCDS197.1																																																																																				0.711	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		T	19992747	C	T	19992747	2	4	156	1	0	0	0	0	0	0	0	1	7451	535	19	1		1	HTR6	1	19992747	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	11572820	19992747	229257874	3	10934											
RNF19B	127544	broad.mit.edu	37	chr1	33402782	33402782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatggagcgagtcctcCgtgctgcttccactcaccag	8	9	10	14	2	1	1	1	1	0	0	4	3	4	2	4	1	4	2	4	1	1	1	rs182126539		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:33402782C>T	ENST00000373456.7	-	9	1823	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	RNF19B_ENST00000235150.4_Silent_p.T607T|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	608					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGAGTCCTCCGTGCTGCTTC	0.502													C|||	1	0.000199681	0	0.0014	5008	,	,		20664	0		0	False		,,,				2504	0					uc010oho.2																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1822-1824)acG>acA		Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.							143	132	136					1																	33402782		2203	4300	6503	SO:0001819	synonymous_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402782C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1824G>A	1.37:g.33402782C>T						RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.T607T	p.T608T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN			8	1824	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	608					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Silent	SNP	ENST00000373456.7	37	c.1824G>A	CCDS372.2																																																																																				0.502	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		T	33402782	C	T	33402782	2	4	156	1	0	0	0	0	0	0	0	1	13471	639	23	2		2	RNF19B	1	33402782	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	13410035	33402782	215847839	4	10935											
COL9A2	1298	broad.mit.edu	37	chr1	40770007	40770007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccttgtctcctttgacGcctggcaagccttggggccc	4	10	12	15	1	1	1	0	1	1	0	2	1	1	1	5	4	1	2	5	4	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:40770007G>A	ENST00000372748.3	-	24	1368	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	424	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCCTTTGACGCCTGGCAAGC	0.607																																						uc001cfh.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1270-1272)ggC>ggT		Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.							26	26	26					1																	40770007		2180	4268	6448	SO:0001819	synonymous_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40770007G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1272C>T	1.37:g.40770007G>A						COL9A2_uc001cfi.1_Silent_p.G243G	p.G424G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		23	1384	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	424			Triple-helical region 3 (COL3).		B2RMP9	Silent	SNP	ENST00000372748.3	37	c.1272C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057765	0.19907	.	.	ENSG00000049089	ENST00000427563	.	.	.	5.49	2.42	0.29668	.	.	.	.	.	T	0.56978	0.2022	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56721	-0.7932	5	0.66056	D	0.02	.	3.4748	0.07581	0.0842:0.1443:0.4946:0.2769	.	.	.	.	V	28	.	ENSP00000407377:A28V	A	-	2	0	COL9A2	40542594	0.999000	0.42202	1.000000	0.80357	0.328000	0.28507	0.418000	0.21230	0.680000	0.31366	-0.224000	0.12420	GCG		0.607	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		A	40770007	G	A	40770007	2	1	156	1	0	0	0	0	0	0	0	1	3708	1074	38	1		1	COL9A2	1	40770007	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	7367225	40770007	208480614	5	10936											
LRRC7	57554	broad.mit.edu	37	chr1	70504762	70504762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagtgaaagccgaaaagagGataccacccccttttcaaca	16	6	8	11	1	1	2	1	1	0	1	1	5	1	3	4	1	3	0	4	1	6	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:70504762G>C	ENST00000035383.5	+	19	3171	c.3141G>C	c.(3139-3141)agG>agC	p.R1047S	LRRC7_ENST00000310961.5_Missense_Mutation_p.R1052S|LRRC7_ENST00000415775.2_Missense_Mutation_p.R331S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1047						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGAAAAGAGGATACCACCCC	0.448																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3139-3141)agG>agC		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							65	69	68					1																	70504762		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504762G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3141G>C	1.37:g.70504762G>C	ENSP00000035383:p.Arg1047Ser					LRRC7_uc009wbg.3_Missense_Mutation_p.R331S|LRRC7_uc001deq.3_Missense_Mutation_p.R288S	p.R1047S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	3171	+			1047					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3141G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.116072	0.08831	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.41	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.50333	1.59	0.41845	D	0.99014	D;D;D	0.71674	0.998;0.989;0.981	D;D;D	0.75020	0.971;0.985;0.966	T	0.22695	-1.0209	10	0.12430	T	0.62	.	6.9504	0.24542	0.1521:0.143:0.7049:0.0	.	331;1047;1047	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1052;1047;331;870	ENSP00000309245:R1052S;ENSP00000035383:R1047S;ENSP00000394867:R331S	ENSP00000035383:R1047S	R	+	3	2	LRRC7	70277350	1.000000	0.71417	0.991000	0.47740	0.013000	0.08279	2.999000	0.49473	0.646000	0.30693	-0.302000	0.09304	AGG		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70504762	G	C	70504762	3	2	156	1	0	0	0	0	1	0	0	0	9020	1165	41	5	3215	5	LRRC7	1	70504762	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	29734755	70504762	178745859	6	10937											
PTGFR	5737	broad.mit.edu	37	chr1	78958623	78958623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagaagtccaaggcatcGtttctgcttttggccagtgg	9	11	12	9	1	1	2	0	0	1	2	3	2	2	2	2	3	1	3	2	3	2	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:78958623G>A	ENST00000370757.3	+	2	432	c.195G>A	c.(193-195)tcG>tcA	p.S65S	PTGFR_ENST00000370758.1_Silent_p.S65S|PTGFR_ENST00000370756.3_Silent_p.S65S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	65					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.S65S(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CCAAGGCATCGTTTCTGCTTT	0.423																																						uc001din.3																			2	Substitution - coding silent(2)	p.S65S(3)	large_intestine(2)	breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(193-195)tcG>tcA		Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						124	119	121					1																	78958623		2203	4300	6503	SO:0001819	synonymous_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958623G>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.195G>A	1.37:g.78958623G>A						PTGFR_uc001dim.3_Silent_p.S65S	p.S65S	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	1	461	+			65					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	c.195G>A	CCDS686.1																																																																																				0.423	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		A	78958623	G	A	78958623	2	1	156	1	0	0	0	0	0	0	0	1	12749	1132	40	1		1	PTGFR	1	78958623	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	8453861	78958623	170291998	7	10938											
GBP4	115361	broad.mit.edu	37	chr1	89650937	89650937	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctggaatattcaggctcTtaaatacgtgagccaagata	14	11	8	8	1	2	2	1	1	1	1	2	3	2	3	2	2	3	1	2	2	8	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:89650937T>A	ENST00000355754.6	-	11	2020	c.1923A>T	c.(1921-1923)taA>taT	p.*641Y	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTCAGGCTCTTAAATACGTG	0.343																																						uc001dnb.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1921-1923)taA>taT		Homo sapiens guanylate binding protein 4 (GBP4), mRNA.							71	66	68					1																	89650937		2203	4300	6503	SO:0001578	stop_lost	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89650937T>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1923A>T	1.37:g.89650937T>A							p.*641Y	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	10	2039	-			0					B2R630|Q05D63|Q6NSL0|Q86T99	Nonstop_Mutation	SNP	ENST00000355754.6	37	c.1923A>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	T	3.471	-0.107978	0.06924	.	.	ENSG00000162654	ENST00000355754	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3111	0.37905	0.0:0.0:0.0:1.0	.	.	.	.	Y	641	.	.	X	-	3	2	GBP4	89423525	0.000000	0.05858	0.015000	0.15790	0.084000	0.17831	-0.006000	0.12833	1.750000	0.51863	0.529000	0.55759	TAA		0.343	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		A	89650937	T	A	89650937	4	1	156	1	0	0	0	0	0	0	0	0	6276	1616	56	5	3	5	GBP4	1	89650937	Nonstop_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	10692314	89650937	159599684	8	10939											
C1orf161	126868	broad.mit.edu	37	chr1	116670945	116670945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacaggccggttatcacGtcccaccatctgcaggtgag	9	7	13	12	2	2	1	1	1	1	0	3	2	3	2	3	4	2	2	3	4	2	1	rs148441950		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:116670945G>A	ENST00000369500.3	+	6	1105	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	280										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CGGTTATCACGTCCCACCATC	0.582																																						uc001egc.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(838-840)acG>acA		Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.		G		0,4406		0,0,2203	42	38	40		840	-7.7	0.3	1	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAB21L3	NM_152367.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		280/363	116670945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116670945G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.840G>A	1.37:g.116670945G>A							p.T280T	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN			5	1105	+			280					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.840G>A	CCDS886.1																																																																																				0.582	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		A	116670945	G	A	116670945	2	1	156	1	0	0	0	0	0	0	0	1	2009	1132	40	1		1	C1orf161	1	116670945	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	27020008	116670945	132579676	9	10940											
NBPF9	400818	broad.mit.edu	37	chr1	144823890	144823890	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatgttattcaactccttCaggttgtcttgaactgactg	9	16	8	8	0	3	3	2	2	1	1	4	3	4	3	1	1	2	2	1	1	4	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:144823890C>G	ENST00000281815.8	+	9	958	c.212C>G	c.(211-213)tCa>tGa	p.S71*	NBPF9_ENST00000338347.4_Nonsense_Mutation_p.S386*|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_Nonsense_Mutation_p.S386*			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	719						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TCAACTCCTTCAGGTTGTCTT	0.483																																						uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1924-1926)tCa>tGa		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001587	stop_gained	400818							g.chr1:144823890C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.212C>G	1.37:g.144823890C>G	ENSP00000281815:p.Ser71*					NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Nonsense_Mutation_p.S445*|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Nonsense_Mutation_p.S304*	p.S642*	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	15	2119	+	all_hematologic(923;0.032)		644						Nonsense_Mutation	SNP	ENST00000281815.8	37	c.1925C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.321870|6.321870	0.97471|0.97471	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|.	.|.	.|.	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|.	0.39655|.	0.1086|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35943|.	-0.9768|.	2|.	.|0.62326	.|D	.|0.03	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	E|X	385|386;386;71	.|.	.|ENSP00000281815:S71X	Q|S	+|+	1|2	0|0	NBPF9|NBPF9	143535247|143535247	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.011000|0.011000	0.07611|0.07611	-0.247000|-0.247000	0.08866|0.08866	0.482000|0.482000	0.27582|0.27582	0.194000|0.194000	0.17425|0.17425	CAG|TCA		0.483	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		G	144823890	C	G	144823890	4	3	156	1	0	0	0	0	0	1	0	0	10199	838	29	5	1983	5	NBPF9	1	144823890	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	28152945	144823890	104426731	10	10941											
FLG	2312	broad.mit.edu	37	chr1	152283564	152283564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctaacactggatccCtggtgcctgcttgtcctgga	5	12	11	13	0	0	0	0	0	0	0	3	2	3	2	4	4	3	2	4	4	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:152283564C>A	ENST00000368799.1	-	3	3833	c.3798G>T	c.(3796-3798)caG>caT	p.Q1266H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1266	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGATCCCTGGTGCCTGC	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3796-3798)caG>caT		Homo sapiens filaggrin (FLG), mRNA.							268	252	257					1																	152283564		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283564C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3798G>T	1.37:g.152283564C>A	ENSP00000357789:p.Gln1266His					AK056431_uc001ezv.3_5'Flank	p.Q1266H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3834	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1266			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3798G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.840	-0.240689	0.05944	.	.	ENSG00000143631	ENST00000368799	T	0.04551	3.6	2.39	-4.13	0.03904	.	.	.	.	.	T	0.01454	0.0047	M	0.67953	2.075	0.09310	N	1	P	0.38335	0.627	B	0.30401	0.115	T	0.37753	-0.9692	9	0.54805	T	0.06	.	3.8633	0.09005	0.0:0.3115:0.3816:0.3069	.	1266	P20930	FILA_HUMAN	H	1266	ENSP00000357789:Q1266H	ENSP00000357789:Q1266H	Q	-	3	2	FLG	150550188	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.236000	0.00546	-0.545000	0.06224	-1.293000	0.01348	CAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283564	C	A	152283564	3	1	156	1	0	0	0	0	1	0	0	0	5922	680	24	5	8391	5	FLG	1	152283564	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	7459674	152283564	96967057	11	10942											
OR6N2	81442	broad.mit.edu	37	chr1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaatgatttccttgttacGaagactgtagataattggat	12	17	8	4	1	0	3	0	1	0	2	1	5	1	4	1	1	1	2	1	1	5	8	rs144962739		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:158746549G>A	ENST00000339258.1	-	1	876	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418																																						uc010pir.2																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(877-879)Cgt>Tgt		Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.		G	CYS/ARG	0,4406		0,0,2203	170	160	163		877	4.6	1	1	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N2	NM_001005278.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	293/318	158746549	1,13005	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746549G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.877C>T	1.37:g.158746549G>A	ENSP00000344101:p.Arg293Cys						p.R293C	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			0	877	-	all_hematologic(112;0.0378)		293					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.877C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082889	0.55861	0.0	1.16E-4	ENSG00000188340	ENST00000339258	T	0.40476	1.03	4.64	4.64	0.57946	.	0.000000	0.34156	N	0.004219	T	0.51550	0.1681	M	0.72479	2.2	0.43007	D	0.994533	D	0.89917	1.0	D	0.70227	0.968	T	0.57046	-0.7878	10	0.87932	D	0	-10.9219	10.1599	0.42844	0.0:0.0:0.6865:0.3135	.	293	Q8NGY6	OR6N2_HUMAN	C	293	ENSP00000344101:R293C	ENSP00000344101:R293C	R	-	1	0	OR6N2	157013173	0.876000	0.30132	1.000000	0.80357	0.987000	0.75469	2.117000	0.41939	2.381000	0.81170	0.650000	0.86243	CGT		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			A	158746549	G	A	158746549	3	1	156	1	0	0	0	0	1	0	0	0	11207	1058	37	2	79	2	OR6N2	1	158746549	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6462985	158746549	90504072	12	10943											
IGSF8	93185	broad.mit.edu	37	chr1	160064843	160064843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttgaagacagcataggaGaactgggtatccttggtact	12	10	12	7	0	0	3	0	1	0	2	1	5	1	3	1	3	3	3	1	3	5	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:160064843G>A	ENST00000368086.1	-	2	474	c.258C>T	c.(256-258)ttC>ttT	p.F86F	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Silent_p.F86F			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	86	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCATAGGAGAACTGGGTAT	0.602																																						uc001fva.3																			0		p.Q85L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(256-258)ttC>ttT		Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.							84	80	82					1																	160064843		2203	4300	6503	SO:0001819	synonymous_variant	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064843G>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.258C>T	1.37:g.160064843G>A						IGSF8_uc001fuz.3_Silent_p.F86F|IGSF8_uc009wtf.3_Silent_p.F86F	p.F86F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		1	303	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		86			Ig-like C2-type 1.		Q8NG09|Q96DP4|Q9BTG9	Silent	SNP	ENST00000368086.1	37	c.258C>T	CCDS1195.1																																																																																				0.602	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		A	160064843	G	A	160064843	2	1	156	1	0	0	0	0	0	0	0	1	7604	933	33	3		3	IGSF8	1	160064843	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	1318294	160064843	89185778	13	10944											
SEC16B	89866	broad.mit.edu	37	chr1	177927423	177927423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatgaggttggccacaggGggctgccgcttgtacttctc	5	12	14	10	1	1	2	0	2	1	0	2	2	1	2	2	4	2	4	2	4	1	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:177927423G>A	ENST00000308284.6	-	10	1298	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	SEC16B_ENST00000464631.2_Silent_p.P404P|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	403					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCACAGGGGGCTGCCGCT	0.587																																						uc001glj.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1210-1212)ccC>ccT		Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.							43	47	46					1																	177927423		1981	4160	6141	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177927423G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1209C>T	1.37:g.177927423G>A						SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc001gli.1_Silent_p.P403P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001gll.4_Silent_p.P404P	p.P404P	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			14	2078	-			403					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1212C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521648	0.27211	.	.	ENSG00000120341	ENST00000527976	.	.	.	4.96	-4.21	0.03812	.	0.816060	0.11089	N	0.601016	T	0.33498	0.0865	.	.	.	0.26338	N	0.977413	.	.	.	.	.	.	T	0.40813	-0.9543	6	0.41790	T	0.15	-3.4837	7.7886	0.29106	0.1292:0.538:0.2462:0.0866	.	.	.	.	S	47	.	ENSP00000435101:P47S	P	-	1	0	AL359075.1	176194046	0.000000	0.05858	0.107000	0.21349	0.993000	0.82548	-1.550000	0.02180	-0.622000	0.05626	0.643000	0.83706	CCC		0.587	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		A	177927423	G	A	177927423	2	1	156	1	0	0	0	0	0	0	0	1	13987	1219	43	3		3	SEC16B	1	177927423	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	17862580	177927423	71323198	14	10945											
GPATCH2	55105	broad.mit.edu	37	chr1	217688167	217688167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgagtactcactcaTggtgatgagaatccggggaa	13	8	11	9	1	2	3	2	3	0	1	3	5	3	4	1	3	1	1	1	3	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:217688167T>C	ENST00000366935.3	-	6	1273	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	388					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACTCACTCATGGTGATGAGA	0.353																																						uc001hlf.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(1162-1164)cAt>cGt		Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.							44	44	44					1																	217688167		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217688167T>C	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1163A>G	1.37:g.217688167T>C	ENSP00000355902:p.His388Arg						p.H388R	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	5	1259	-			388					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1163A>G	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926117	0.52759	.	.	ENSG00000092978	ENST00000366935	T	0.30182	1.54	5.95	5.95	0.96441	.	0.050878	0.85682	D	0.000000	T	0.32010	0.0815	L	0.57536	1.79	0.80722	D	1	P	0.35077	0.483	B	0.33339	0.162	T	0.05500	-1.0881	10	0.25106	T	0.35	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	388	Q9NW75	GPTC2_HUMAN	R	388	ENSP00000355902:H388R	ENSP00000355902:H388R	H	-	2	0	GPATCH2	215754790	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.178000	0.50879	2.281000	0.76405	0.528000	0.53228	CAT		0.353	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		C	217688167	T	C	217688167	3	2	156	1	0	0	0	0	1	0	0	0	6591	1464	51	4	443	4	GPATCH2	1	217688167	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	39760744	217688167	31562454	15	10946											
NVL	4931	broad.mit.edu	37	chr1	224514105	224514105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttacctgtacactcttTgtaaatcagacgctaagact	12	15	5	9	1	2	2	1	0	1	2	2	2	2	2	1	0	2	3	1	0	6	7			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:224514105T>C	ENST00000281701.6	-	2	378	c.119A>G	c.(118-120)cAa>cGa	p.Q40R	NVL_ENST00000469075.1_Missense_Mutation_p.Q40R|NVL_ENST00000482491.1_Intron|NVL_ENST00000361463.3_Intron|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000391875.2_Intron|NVL_ENST00000340871.4_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	40						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACACTCTTTGTAAATCAGA	0.318																																						uc001hok.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(118-120)cAa>cGa		Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.							98	100	99					1																	224514105		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224514105T>C	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.119A>G	1.37:g.224514105T>C	ENSP00000281701:p.Gln40Arg					NVL_uc001hol.3_Intron|NVL_uc010pvd.2_Missense_Mutation_p.Q40R|NVL_uc010pve.2_Intron|NVL_uc010pvf.2_Intron|NVL_uc010pvg.2_Missense_Mutation_p.Q40R	p.Q40R	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	1	181	-			40					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.119A>G	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325092	0.81580	.	.	ENSG00000143748	ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546	D;D	0.96136	-3.74;-3.92	5.91	5.91	0.95273	.	0.063428	0.64402	N	0.000005	D	0.96959	0.9007	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.996;0.993;0.999	D;D;D	0.80764	0.986;0.968;0.994	D	0.96669	0.9495	10	0.42905	T	0.14	-16.7907	14.9163	0.70801	0.0:0.0:0.0:1.0	.	40;40;40	B4DF43;B4DP98;O15381	.;.;NVL_HUMAN	R	40	ENSP00000281701:Q40R;ENSP00000417826:Q40R	ENSP00000281701:Q40R	Q	-	2	0	NVL	222580728	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.906000	0.63293	2.261000	0.74972	0.533000	0.62120	CAA		0.318	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		C	224514105	T	C	224514105	3	2	156	1	0	0	0	0	1	0	0	0	10780	1812	63	4	2539	4	NVL	1	224514105	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	6825938	224514105	24736516	16	10947											
DYSF	8291	broad.mit.edu	37	chr2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagttcatcctgtggCggcgtttccggtgggccatc	5	11	13	12	3	1	1	1	1	0	0	4	1	3	1	4	4	0	2	4	4	1	2	rs200990851		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:71909724C>T	ENST00000258104.3	+	54	6398	c.6121C>T	c.(6121-6123)Cgg>Tgg	p.R2041W	DYSF_ENST00000413539.2_Missense_Mutation_p.R2072W|DYSF_ENST00000409366.1_Missense_Mutation_p.R2063W|DYSF_ENST00000409744.1_Missense_Mutation_p.R2049W|DYSF_ENST00000394120.2_Missense_Mutation_p.R2042W|DYSF_ENST00000409582.3_Missense_Mutation_p.R2079W|DYSF_ENST00000409651.1_Missense_Mutation_p.R2073W|DYSF_ENST00000410020.3_Missense_Mutation_p.R2080W|DYSF_ENST00000429174.2_Missense_Mutation_p.R2062W|DYSF_ENST00000410041.1_Missense_Mutation_p.R2059W|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.R2058W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2041					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582																																						uc010fen.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(6238-6240)Cgg>Tgg		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							173	125	141					2																	71909724		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909724C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6121C>T	2.37:g.71909724C>T	ENSP00000258104:p.Arg2041Trp					DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W	p.R2080W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN			54	6379	+			2041					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6238C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059284	0.76074	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.1	3.13	0.36017	.	0.050411	0.85682	D	0.000000	D	0.91908	0.7438	M	0.84773	2.715	0.53005	D	0.999969	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.985;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.995;1.0;0.975;0.982;1.0;1.0;0.999	D	0.92459	0.5976	10	0.87932	D	0	-25.7551	11.4408	0.50096	0.4266:0.5734:0.0:0.0	.	805;2073;2080;2063;2028;2059;2049;2058;2048;2072;2079;2062;2027;2042;2041	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	2072;2058;2079;2062;2041;2073;2042;2049;2063;2080;2059	ENSP00000407046:R2072W;ENSP00000387137:R2058W;ENSP00000386547:R2079W;ENSP00000398305:R2062W;ENSP00000258104:R2041W;ENSP00000386683:R2073W;ENSP00000377678:R2042W;ENSP00000386285:R2049W;ENSP00000386512:R2063W;ENSP00000386881:R2080W;ENSP00000386617:R2059W	ENSP00000258104:R2041W	R	+	1	2	DYSF	71763232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.570000	0.36439	1.220000	0.43490	0.655000	0.94253	CGG		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71909724	C	T	71909724	3	4	156	1	0	0	0	0	1	0	0	0	4859	759	27	1	6594	1	DYSF	2	71909724	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		71909724	171289649	17	10948											
ASTL	431705	broad.mit.edu	37	chr2	96798441	96798441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcatccctccactgcGccccacactcgagaagcacc	9	5	6	21	2	0	1	0	0	0	1	3	2	2	1	6	0	3	2	6	0	1	0	rs145986421		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:96798441G>A	ENST00000342380.2	-	6	474	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCCACTGCGCCCCACACTC	0.627																																						uc010yui.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(475-477)Cgc>Tgc		Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.		G	CYS/ARG	0,4406		0,0,2203	59	60	60		475	3.9	0.8	2	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	missense	ASTL	NM_001002036.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	159/432	96798441	2,13004	2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96798441G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.475C>T	2.37:g.96798441G>A	ENSP00000343674:p.Arg159Cys						p.R159C	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			5	475	-			159						Missense_Mutation	SNP	ENST00000342380.2	37	c.475C>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172317	0.57584	0.0	2.33E-4	ENSG00000188886	ENST00000342380	T	0.67345	-0.26	4.79	3.91	0.45181	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.47093	D	0.000244	T	0.70710	0.3255	M	0.90759	3.145	0.36713	D	0.880743	P	0.52316	0.952	B	0.41510	0.359	T	0.79981	-0.1574	10	0.66056	D	0.02	-14.8332	10.6411	0.45594	0.095:0.0:0.905:0.0	.	159	Q6HA08	ASTL_HUMAN	C	159	ENSP00000343674:R159C	ENSP00000343674:R159C	R	-	1	0	ASTL	96162168	0.559000	0.26562	0.786000	0.31890	0.756000	0.42949	2.321000	0.43805	1.016000	0.39470	0.551000	0.68910	CGC		0.627	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			A	96798441	G	A	96798441	3	1	156	1	0	0	0	0	1	0	0	0	1063	1087	38	1	835	1	ASTL	2	96798441	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	24888717	96798441	146400932	18	10949											
NEB	4703	broad.mit.edu	37	chr2	152470900	152470900	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtcgcttacaaggatctGacacttcttggccagcacca	10	11	8	12	1	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	3	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:152470900G>A	ENST00000172853.10	-	73	10909	c.10762C>T	c.(10762-10764)Cag>Tag	p.Q3588*	NEB_ENST00000409198.1_Nonsense_Mutation_p.Q3588*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q3831*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q3831*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q3831*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Q3831*			P20929	NEBU_HUMAN	nebulin	3588					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAAGGATCTGACACTTCTTG	0.527																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10762-10764)Cag>Tag		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.							234	229	231					2																	152470900		2059	4214	6273	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152470900G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10762C>T	2.37:g.152470900G>A	ENSP00000172853:p.Gln3588*					NEB_uc002txu.3_Nonsense_Mutation_p.Q3831*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3831*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3576*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3588*	p.Q3588*	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	71	10791	-			3588					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.10762C>T		.	.	.	.	.	.	.	.	.	.	G	53	20.527224	0.99931	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6058	0.95582	0.0:0.0:1.0:0.0	.	.	.	.	X	3588;3831;3831;3588	.	ENSP00000172853:Q3588X	Q	-	1	0	NEB	152179146	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	CAG		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152470900	G	A	152470900	4	1	156	1	0	0	0	0	0	1	0	0	10302	1299	45	3	14619	3	NEB	2	152470900	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	55672459	152470900	90728473	19	10950											
ZNF804A	91752	broad.mit.edu	37	chr2	185801478	185801478	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatacaactacgaaaccatCaatttcctatagctgtaatc	15	13	3	10	1	1	0	1	0	0	0	3	1	2	0	2	0	5	2	2	0	9	7			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:185801478C>G	ENST00000302277.6	+	4	1949	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	452							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACGAAACCATCAATTTCCTAT	0.333																																						uc002uph.3																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1354-1356)tCa>tGa		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							95	96	96					2																	185801478		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185801478C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1355C>G	2.37:g.185801478C>G	ENSP00000303252:p.Ser452*						p.S452*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			3	1949	+			452					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.1355C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	43	10.041875	0.99324	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.6	5.6	0.85130	.	0.277746	0.25897	N	0.027590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1723	18.5921	0.91217	0.0:1.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000303252:S452X	S	+	2	0	ZNF804A	185509723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.642000	0.89623	0.591000	0.81541	TCA		0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		G	185801478	C	G	185801478	4	3	156	1	0	0	0	0	0	1	0	0	18167	838	29	5	1369	5	ZNF804A	2	185801478	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	33330578	185801478	57397895	20	10951											
COL3A1	1281	broad.mit.edu	37	chr2	189851838	189851838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctggagtagcagtaggAggactcgcaggctatcctgg	10	8	15	8	1	1	0	0	0	1	0	3	3	2	3	1	5	1	5	1	5	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189851838A>G	ENST00000304636.3	+	5	671	c.501A>G	c.(499-501)ggA>ggG	p.G167G	COL3A1_ENST00000317840.5_Silent_p.G167G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	167	Nonhelical region (N-terminal).				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGCAGTAGGAGGACTCGCAG	0.403																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(499-501)ggA>ggG		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						143	140	141					2																	189851838		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189851838A>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.501A>G	2.37:g.189851838A>G							p.G167G	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		4	618	+			167			Nonhelical region (N-terminal).		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.501A>G	CCDS2297.1																																																																																				0.403	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		G	189851838	A	G	189851838	2	3	156	1	0	0	0	0	0	0	0	1	3688	291	11	4		4	COL3A1	2	189851838	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	4050360	189851838	53347535	21	10952											
COL3A1	1281	broad.mit.edu	37	chr2	189864035	189864035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctggtgcccctggtgaaCgtggacctcctggattggca	6	10	14	11	1	0	1	0	1	0	0	1	3	1	3	4	5	3	2	4	5	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189864035C>A	ENST00000304636.3	+	30	2217	c.2047C>A	c.(2047-2049)Cgt>Agt	p.R683S	COL3A1_ENST00000317840.5_Missense_Mutation_p.R683S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	683	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGGTGAACGTGGACCTCC	0.493																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2047-2049)Cgt>Agt		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						35	36	36					2																	189864035		2202	4300	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189864035C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2047C>A	2.37:g.189864035C>A	ENSP00000304408:p.Arg683Ser						p.R683S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		29	2164	+			683			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2047C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854488	0.51376	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93763	-3.16;-3.28	4.96	4.96	0.65561	.	0.000000	0.43919	D	0.000519	D	0.94588	0.8256	L	0.48260	1.515	0.51767	D	0.999934	D	0.76494	0.999	D	0.85130	0.997	D	0.92715	0.6186	10	0.26408	T	0.33	.	13.5649	0.61813	0.1554:0.8445:0.0:0.0	.	683	P02461	CO3A1_HUMAN	S	683	ENSP00000304408:R683S;ENSP00000315243:R683S	ENSP00000304408:R683S	R	+	1	0	COL3A1	189572280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.304000	0.33482	2.472000	0.83506	0.650000	0.86243	CGT		0.493	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189864035	C	A	189864035	3	1	156	1	0	0	0	0	1	0	0	0	3688	536	19	5	2165	5	COL3A1	2	189864035	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	12197	189864035	53335338	22	10953											
ANKAR	150709	broad.mit.edu	37	chr2	190571779	190571779	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattaaaggaaataatataAtccatttatcagtgttaacc	18	14	4	5	0	1	0	1	0	0	0	2	1	2	1	2	1	1	1	2	1	9	8			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:190571779A>C	ENST00000520309.1	+	9	2114	c.2026A>C	c.(2026-2028)Atc>Ctc	p.I676L	ANKAR_ENST00000313581.4_Missense_Mutation_p.I676L|ANKAR_ENST00000281412.6_Missense_Mutation_p.I440L|ANKAR_ENST00000438402.2_Missense_Mutation_p.I676L|ANKAR_ENST00000431575.2_Missense_Mutation_p.I605L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	676						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAATAATATAATCCATTTATC	0.343																																						uc002uqw.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2026-2028)Atc>Ctc		Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.							46	48	47					2																	190571779		2202	4300	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190571779A>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2026A>C	2.37:g.190571779A>C	ENSP00000427882:p.Ile676Leu					ANKAR_uc002uqu.3_Non-coding_Transcript	p.I676L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	2114	+			676					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2026A>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765518	0.49574	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	4.98	3.83	0.44106	.	0.000000	0.45361	D	0.000377	T	0.04634	0.0126	N	0.04355	-0.22	0.29517	N	0.853765	.	.	.	.	.	.	T	0.35475	-0.9787	8	0.02654	T	1	-12.3624	9.7335	0.40374	0.9173:0.0:0.0826:0.0	.	.	.	.	L	676;676;676;605;440	ENSP00000427882:I676L;ENSP00000313513:I676L;ENSP00000397243:I676L;ENSP00000393043:I605L;ENSP00000281412:I440L	ENSP00000281412:I440L	I	+	1	0	ANKAR	190280024	0.999000	0.42202	0.166000	0.22797	0.904000	0.53231	4.087000	0.57671	0.933000	0.37291	-0.250000	0.11733	ATC		0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		C	190571779	A	C	190571779	3	2	156	1	0	0	0	0	1	0	0	0	623	101	4	5	2056	5	ANKAR	2	190571779	Missense_Mutation	SNP	A	TCGA-19-2623-01A-01D-1495-08	707744	190571779	52627594	23	10954											
ZNF142	7701	broad.mit.edu	37	chr2	219507508	219507508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacccttaaccggtgcaagCgcagtttcgagttggtacca	9	10	11	11	3	0	0	0	0	0	0	1	1	0	0	3	2	5	6	3	2	4	5	rs200398690		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:219507508C>T	ENST00000449707.1	-	8	4152	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1244H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCGGTGCAAGCGCAGTTTCGA	0.542																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3730-3732)cGc>cAc		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.		C	HIS/ARG	3,4247		0,3,2122	105	114	111		3731	5.4	1	2		111	0,8464		0,0,4232	yes	missense	ZNF142	NM_001105537.1	29	0,3,6354	TT,TC,CC		0.0,0.0706,0.0236	probably-damaging	1244/1688	219507508	3,12711	2125	4232	6357	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507508C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3731G>A	2.37:g.219507508C>T	ENSP00000408643:p.Arg1244His					ZNF142_uc002vil.3_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.3_Missense_Mutation_p.R1081H|ZNF142_uc002vim.3_Missense_Mutation_p.R1081H	p.R1244H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4167	-		Renal(207;0.0474)	1244					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3731G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920326	0.92249	7.06E-4	0.0	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.61274	0.12;0.12	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67987	-0.5528	10	0.45353	T	0.12	-53.5349	19.4628	0.94924	0.0:1.0:0.0:0.0	.	1244;1081	P52746;A8MWU9	ZN142_HUMAN;.	H	1244	ENSP00000408643:R1244H;ENSP00000398798:R1244H	ENSP00000398798:R1244H	R	-	2	0	ZNF142	219215752	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	7.406000	0.80017	2.837000	0.97791	0.655000	0.94253	CGC		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		T	219507508	C	T	219507508	3	4	156	1	0	0	0	0	1	0	0	0	17728	768	27	1	1344	1	ZNF142	2	219507508	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	28935729	219507508	23691865	24	10955											
KIAA1486	57624	broad.mit.edu	37	chr2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccacctctccctcccccGtcagcatggggaggtccctg	5	8	9	19	1	2	0	1	0	1	0	6	1	5	1	6	3	1	1	6	3	0	0	rs551391208		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642																																						uc002voe.2																			1	Substitution - Missense(1)	p.V440I(1)	large_intestine(1)								c.(1318-1320)Gtc>Atc		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							35	39	37					2																	226447451		2007	4183	6190	SO:0001583	missense	57624							g.chr2:226447451G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1318G>A	2.37:g.226447451G>A	ENSP00000272907:p.Val440Ile					NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.V210I	p.V440I	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1493	+			440			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1318G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121708	0.77436	.	.	ENSG00000144460	ENST00000272907	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.41538	-0.9503	10	0.30854	T	0.27	-12.6994	18.7321	0.91739	0.0:0.0:1.0:0.0	.	440	Q9P242	K1486_HUMAN	I	440	ENSP00000272907:V440I	ENSP00000272907:V440I	V	+	1	0	KIAA1486	226155695	1.000000	0.71417	0.039000	0.18376	0.943000	0.58893	9.476000	0.97823	2.415000	0.81967	0.563000	0.77884	GTC		0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226447451	G	A	226447451	3	1	156	1	0	0	0	0	1	0	0	0	8237	1145	40	1	1328	1	KIAA1486	2	226447451	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6939943	226447451	16751922	25	10956											
TRPM8	79054	broad.mit.edu	37	chr2	234891861	234891861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggccaggtgcccagtgaCgtggatggtaagcctgactt	7	10	14	10	2	0	2	0	2	0	0	1	3	0	3	3	4	2	1	3	4	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:234891861C>T	ENST00000324695.4	+	20	2794	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D	TRPM8_ENST00000433712.2_Silent_p.D496D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	918					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCCCAGTGACGTGGATGGTA	0.592																																						uc002vvh.3																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2752-2754)gaC>gaT		Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	Menthol(DB00825)						75	69	71					2																	234891861		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234891861C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2754C>T	2.37:g.234891861C>T						TRPM8_uc010fyj.3_Silent_p.D496D|TRPM8_uc010fyk.3_Non-coding_Transcript	p.D918D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	19	2794	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	918					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2754C>T	CCDS33407.1																																																																																				0.592	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		T	234891861	C	T	234891861	2	4	156	1	0	0	0	0	0	0	0	1	16589	535	19	1		1	TRPM8	2	234891861	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	8444410	234891861	8307512	26	10957											
CAND2	23066	broad.mit.edu	37	chr3	12858462	12858462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacactggcagccctggaCgccctggcccagagccaggg	7	3	14	17	1	0	1	0	0	0	1	0	2	0	2	5	4	2	1	5	4	0	0	rs377443431		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:12858462C>T	ENST00000456430.2	+	10	2072	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_ENST00000295989.5_Silent_p.D584D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	677					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			2	Substitution - coding silent(2)	p.D584D(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2029-2031)gaC>gaT		Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.		C	,	2,4054		0,2,2026	24	26	25		2031,1752	-9.9	0.2	3		25	0,8374		0,0,4187	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,2,6213	TT,TC,CC		0.0,0.0493,0.0161	,	677/1237,584/1120	12858462	2,12428	2028	4187	6215	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858462C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2031C>T	3.37:g.12858462C>T						CAND2_uc003bxj.2_Silent_p.D584D	p.D677D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			9	2080	+			677					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.2031C>T	CCDS54554.1																																																																																				0.662	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		T	12858462	C	T	12858462	2	4	156	1	0	0	0	0	0	0	0	1	2616	535	19	1		1	CAND2	3	12858462	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08		12858462	185163968	27	10958											
SCN10A	6336	broad.mit.edu	37	chr3	38748876	38748876	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcctggccccctaagTgcagagagggccacactgtt	9	8	12	12	0	0	2	0	0	0	2	1	3	1	2	4	2	1	2	4	2	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:38748876T>C	ENST00000449082.2	-	25	4281		c.e25-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCCCCTAAGTGCAGAGAGGG	0.512																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e25-1		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						93	96	95					3																	38748876		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38748876T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4282-2A>G	3.37:g.38748876T>C							p.L1428_splice	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4282	-			1428					A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37	c.4282_splice	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330021	0.81690	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6558	0.68833	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38723880	1.000000	0.71417	0.974000	0.42286	0.965000	0.64279	7.819000	0.86621	2.058000	0.61347	0.459000	0.35465	.		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Intron	C	38748876	T	C	38748876	5	2	156	1	0	0	0	0	0	0	1	0	13912	1710	59	4	1602	4	SCN10A	3	38748876	Splice_Site	SNP	T	TCGA-19-2623-01A-01D-1495-08	25890414	38748876	159273554	28	10959											
PCOLCE2	26577	broad.mit.edu	37	chr3	142557612	142557612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaataggtgctacttacGcaggtggactatcaccacaa	14	9	8	10	1	1	0	1	0	0	0	1	1	1	1	1	3	3	2	1	3	7	5	rs532109090		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:142557612G>A	ENST00000295992.3	-	5	1016	c.710C>T	c.(709-711)gCg>gTg	p.A237V	PCOLCE2_ENST00000485766.1_Splice_Site_p.A237V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	237	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCTACTTACGCAGGTGGACT	0.378													G|||	1	0.000199681	0	0	5008	,	,		15224	0		0	False		,,,				2504	0.001					uc003evd.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.e5+1		Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.							123	112	116					3																	142557612		2203	4300	6503	SO:0001630	splice_region_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142557612G>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.710+1C>T	3.37:g.142557612G>A							p.A237_splice	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			5	1017	-			237			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.710_splice	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715748	0.48622	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.18657	2.2;2.2	5.77	3.05	0.35203	CUB (5);	0.154211	0.64402	N	0.000020	T	0.19525	0.0469	L	0.53617	1.68	0.58432	D	0.999997	B	0.15930	0.015	B	0.16289	0.015	T	0.04454	-1.0950	9	.	.	.	-6.9648	11.0301	0.47767	0.2006:0.0:0.7994:0.0	.	237	Q9UKZ9	PCOC2_HUMAN	V	237	ENSP00000295992:A237V;ENSP00000419842:A237V	.	A	-	2	0	PCOLCE2	144040302	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	4.534000	0.60622	0.377000	0.24735	-0.194000	0.12790	GCG;GCT		0.378	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	Missense_Mutation	A	142557612	G	A	142557612	5	1	156	1	0	0	0	0	0	0	1	0	11595	1101	38	1	557	1	PCOLCE2	3	142557612	Splice_Site	SNP	G	TCGA-19-2623-01A-01D-1495-08	103808736	142557612	55464818	29	10960											
GPR78	27201	broad.mit.edu	37	chr4	8582980	8582980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggacaccttcctggcgTccaacgcggcgctgagcgtg	5	8	13	15	5	0	1	0	1	0	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:8582980T>C	ENST00000382487.4	+	1	688	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	91					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCTGGCGTCCAACGCGGC	0.706																																						uc003glk.3																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(271-273)Tcc>Ccc		Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.							10	12	11					4																	8582980		2194	4283	6477	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8582980T>C	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.271T>C	4.37:g.8582980T>C	ENSP00000371927:p.Ser91Pro					GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	p.S91P	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			0	764	+			91					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.271T>C	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400876	0.62177	.	.	ENSG00000155269	ENST00000382487	T	0.72615	-0.67	2.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.364719	0.25208	U	0.032325	T	0.74756	0.3758	L	0.42245	1.32	0.26775	N	0.969729	D	0.69078	0.997	D	0.65874	0.939	T	0.65841	-0.6070	10	0.87932	D	0	.	9.7588	0.40519	0.0:0.0:0.0:1.0	.	91	Q96P69	GPR78_HUMAN	P	91	ENSP00000371927:S91P	ENSP00000371927:S91P	S	+	1	0	GPR78	8633880	0.888000	0.30383	0.003000	0.11579	0.962000	0.63368	1.095000	0.30964	0.852000	0.35287	0.260000	0.18958	TCC		0.706	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			C	8582980	T	C	8582980	3	2	156	1	0	0	0	0	1	0	0	0	6710	1667	58	4	273	4	GPR78	4	8582980	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		8582980	182571296	30	10961											
NCAPG	64151	broad.mit.edu	37	chr4	17816578	17816578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaaaaattgtagggcGcaccaaggatgtgaaagagg	14	8	13	6	1	0	2	0	1	0	1	0	3	0	3	2	3	1	2	2	3	5	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:17816578G>A	ENST00000251496.2	+	4	823	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	216					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTGTAGGGCGCACCAAGGAT	0.398																																						uc003gpp.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(646-648)cGc>cAc		Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.							93	87	89					4																	17816578		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17816578G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.647G>A	4.37:g.17816578G>A	ENSP00000251496:p.Arg216His					NCAPG_uc011bxj.2_5'UTR	p.R216H	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	3	823	+			216					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.647G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431352	0.96150	.	.	ENSG00000109805	ENST00000251496	T	0.46063	0.88	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71286	-0.4638	10	0.87932	D	0	-7.7618	20.3931	0.98965	0.0:0.0:1.0:0.0	.	216	Q9BPX3	CND3_HUMAN	H	216	ENSP00000251496:R216H	ENSP00000251496:R216H	R	+	2	0	NCAPG	17425676	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	9.096000	0.94182	2.824000	0.97209	0.655000	0.94253	CGC		0.398	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		A	17816578	G	A	17816578	3	1	156	1	0	0	0	0	1	0	0	0	10207	1087	38	1	661	1	NCAPG	4	17816578	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	9233598	17816578	173337698	31	10962											
LGI2	55203	broad.mit.edu	37	chr4	25014103	25014103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgactggtagggtaaaGtctgatgaacaacaaaatct	17	8	9	7	1	2	2	0	2	2	0	2	3	2	2	1	2	3	2	1	2	8	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:25014103G>T	ENST00000382114.4	-	7	859	c.674C>A	c.(673-675)aCt>aAt	p.T225N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	225						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTAGGGTAAAGTCTGATGAAC	0.473																																						uc003grf.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(673-675)aCt>aAt		Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.							95	88	91					4																	25014103		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25014103G>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.674C>A	4.37:g.25014103G>T	ENSP00000371548:p.Thr225Asn						p.T225N	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			6	773	-		Breast(46;0.173)	225					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.674C>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300234	0.60195	.	.	ENSG00000153012	ENST00000382114	T	0.80393	-1.37	4.81	3.95	0.45737	.	0.327890	0.34314	N	0.004067	T	0.74374	0.3708	L	0.43923	1.385	0.35296	D	0.782596	P	0.34699	0.464	B	0.42593	0.392	T	0.77715	-0.2484	10	0.46703	T	0.11	-12.2357	4.7964	0.13274	0.3151:0.0:0.6849:0.0	.	225	Q8N0V4	LGI2_HUMAN	N	225	ENSP00000371548:T225N	ENSP00000371548:T225N	T	-	2	0	LGI2	24623201	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	4.959000	0.63666	2.373000	0.80994	0.555000	0.69702	ACT		0.473	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			T	25014103	G	T	25014103	3	4	156	1	0	0	0	0	1	0	0	0	8752	1029	36	5	971	5	LGI2	4	25014103	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	7197525	25014103	166140173	32	10963											
GABRG1	2565	broad.mit.edu	37	chr4	46043100	46043100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaattttggcaatgcGtatgtgtatccttccttccc	8	15	8	10	1	1	1	1	0	0	1	4	1	4	1	3	1	1	3	3	1	4	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:46043100G>A	ENST00000295452.4	-	9	1470	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	435					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R435C(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGGCAATGCGTATGTGTATC	0.403																																						uc003gxb.3																			2	Substitution - Missense(2)	p.R435C(4)	lung(1)|endometrium(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1303-1305)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.							132	133	132					4																	46043100		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043100G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1303C>T	4.37:g.46043100G>A	ENSP00000295452:p.Arg435Cys						p.R435C	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1455	-			435					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1303C>T	CCDS3470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.211790|5.211790	0.95069|0.95069	.|.	.|.	ENSG00000163285|ENSG00000163285	ENST00000295452|ENST00000540030	D|.	0.84660|.	-1.88|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);|.	0.117464|.	0.64402|.	D|.	0.000011|.	T|T	0.74891|0.74891	0.3776|0.3776	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65010|.	0.931|.	T|T	0.72050|0.72050	-0.4407|-0.4407	10|6	0.72032|0.33141	D|T	0.01|0.24	.|.	18.356|18.356	0.90357|0.90357	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435|.	Q8N1C3|.	GBRG1_HUMAN|.	C|M	435|415	ENSP00000295452:R435C|.	ENSP00000295452:R435C|ENSP00000445441:T415M	R|T	-|-	1|2	0|0	GABRG1|GABRG1	45737857|45737857	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.973000|0.973000	0.67179|0.67179	7.919000|7.919000	0.87513|0.87513	2.580000|2.580000	0.87095|0.87095	0.585000|0.585000	0.79938|0.79938	CGC|ACG		0.403	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		A	46043100	G	A	46043100	3	1	156	1	0	0	0	0	1	0	0	0	6171	1145	40	1	98	1	GABRG1	4	46043100	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	21028997	46043100	145111176	33	10964											
UGT2B4	7363	broad.mit.edu	37	chr4	70361563	70361563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcagcagaagagctgaaGtccatttcatagacatcctg	13	10	9	9	0	2	4	2	1	0	3	4	4	4	4	2	0	2	3	2	0	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:70361563G>A	ENST00000305107.6	-	1	63	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_ENST00000512583.1_Missense_Mutation_p.T6I|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	6					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AAGAGCTGAAGTCCATTTCAT	0.443																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(16-18)aCt>aTt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							147	143	144					4																	70361563		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361563G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.17C>T	4.37:g.70361563G>A	ENSP00000305221:p.Thr6Ile					UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.T6I	p.T6I	NM_021139	NP_066962	P06133	UD2B4_HUMAN			0	64	-			6					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.17C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.447186	0.01089	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.59364	0.91;0.27;2.97	2.41	-3.08	0.05347	.	1.161080	0.06751	N	0.779990	T	0.28797	0.0714	N	0.05230	-0.09	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.12837	0.002;0.008	T	0.22800	-1.0206	10	0.08381	T	0.77	.	7.0339	0.24983	0.6879:0.0:0.3121:0.0	.	6;6	G5E9X8;P06133	.;UD2B4_HUMAN	I	6	ENSP00000421290:T6I;ENSP00000305221:T6I;ENSP00000421113:T6I	ENSP00000305221:T6I	T	-	2	0	UGT2B4	70396152	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.378000	0.07446	-0.764000	0.04651	0.306000	0.20318	ACT		0.443	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		A	70361563	G	A	70361563	3	1	156	1	0	0	0	0	1	0	0	0	16958	1029	36	3	1593	3	UGT2B4	4	70361563	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	24318463	70361563	120792713	34	10965											
PF4	5196	broad.mit.edu	37	chr4	74847163	74847163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggggcagtggggtccGgccttgatcacctccaggct	5	8	16	12	1	1	1	1	1	0	0	3	1	3	1	4	6	0	3	4	6	0	1	rs144253863		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:74847163G>A	ENST00000296029.3	-	2	359	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	63					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGTGGGGTCCGGCCTTGATCA	0.612																																						uc003hhi.2																			0				kidney(1)|lung(1)	2						c.(187-189)gcC>gcT		Homo sapiens platelet factor 4 (PF4), mRNA.	Drotrecogin alfa(DB00055)	G		0,4406		0,0,2203	76	72	73		189	-5.3	0	4	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PF4	NM_002619.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		63/102	74847163	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74847163G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.189C>T	4.37:g.74847163G>A							p.A63A	NM_002619	NP_002610	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		1	234	-	Breast(15;0.00136)		63					Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	c.189C>T	CCDS3562.1																																																																																				0.612	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			A	74847163	G	A	74847163	2	1	156	1	0	0	0	0	0	0	0	1	11752	1103	39	2		2	PF4	4	74847163	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	4485600	74847163	116307113	35	10966											
MEPE	56955	broad.mit.edu	37	chr4	88766796	88766796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctcctttcagtggggacgGccaaccttttaaggacattc	9	12	9	11	1	2	0	1	0	1	0	4	2	2	2	3	4	1	0	3	4	2	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:88766796G>A	ENST00000424957.3	+	4	849	c.776G>A	c.(775-777)gGc>gAc	p.G259D	MEPE_ENST00000497649.2_Missense_Mutation_p.G235D|MEPE_ENST00000560249.1_Missense_Mutation_p.G146D|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.G146D|MEPE_ENST00000395102.4_Missense_Mutation_p.G290D|MEPE_ENST00000361056.3_Missense_Mutation_p.G259D	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	259					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGTGGGGACGGCCAACCTTTT	0.453																																						uc021xpx.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(868-870)gGc>gAc		Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.							61	61	61					4																	88766796		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766796G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.776G>A	4.37:g.88766796G>A	ENSP00000416984:p.Gly259Asp					MEPE_uc021xpu.1_Missense_Mutation_p.G259D|MEPE_uc021xpv.1_Missense_Mutation_p.G146D|MEPE_uc021xpw.1_Missense_Mutation_p.G146D|MEPE_uc010ikn.3_Missense_Mutation_p.G146D|MEPE_uc003hqy.3_Missense_Mutation_p.G259D|MEPE_uc021xpy.1_Missense_Mutation_p.G146D	p.G290D	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	3	881	+		Hepatocellular(203;0.114)	259					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.869G>A	CCDS3625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.69|18.69	3.678159|3.678159	0.68042|0.68042	.|.	.|.	ENSG00000152595|ENSG00000152595	ENST00000535138|ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	.|T;T;T;T;T	.|0.56941	.|0.44;0.46;0.43;0.46;0.44	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	.|0.000000	.|0.47852	.|D	.|0.000203	T|T	0.71945|0.71945	0.3400|0.3400	M|M	0.83774|0.83774	2.66|2.66	0.39810|0.39810	D|D	0.972693|0.972693	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.77178|0.77178	-0.2683|-0.2683	6|10	0.87932|0.87932	D|D	0|0	-20.7018|-20.7018	11.5944|11.5944	0.50964|0.50964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|259	.|Q9NQ76	.|MEPE_HUMAN	T|D	259|259;290;235;146;259	.|ENSP00000416984:G259D;ENSP00000378534:G290D;ENSP00000422747:G235D;ENSP00000443491:G146D;ENSP00000354341:G259D	ENSP00000445423:A259T|ENSP00000354341:G259D	A|G	+|+	1|2	0|0	MEPE|MEPE	88985820|88985820	0.970000|0.970000	0.33590|0.33590	0.972000|0.972000	0.41901|0.41901	0.927000|0.927000	0.56198|0.56198	1.910000|1.910000	0.39927|0.39927	2.453000|2.453000	0.82957|0.82957	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.453	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			A	88766796	G	A	88766796	3	1	156	1	0	0	0	0	1	0	0	0	9478	1203	42	3	786	3	MEPE	4	88766796	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	13919633	88766796	102387480	36	10967											
FAM13A	10144	broad.mit.edu	37	chr4	89668975	89668975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcatcctgggagttaggTcctcttcagatatctttagt	7	14	10	10	1	3	1	1	0	2	1	5	2	5	2	3	2	0	2	3	2	3	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:89668975T>C	ENST00000264344.5	-	18	2396	c.2189A>G	c.(2188-2190)gAc>gGc	p.D730G	FAM13A_ENST00000508369.1_Missense_Mutation_p.D404G|FAM13A_ENST00000513837.1_Missense_Mutation_p.D376G|FAM13A_ENST00000503556.1_Missense_Mutation_p.D390G|FAM13A_ENST00000395002.2_Missense_Mutation_p.D404G|FAM13A_ENST00000511976.1_Missense_Mutation_p.D316G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	730					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGTTAGGTCCTCTTCAGA	0.398																																						uc003hse.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(2188-2190)gAc>gGc		Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.							83	92	89					4																	89668975		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668975T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2189A>G	4.37:g.89668975T>C	ENSP00000264344:p.Asp730Gly					FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	p.D730G	NM_014883	NP_055698	O94988	FA13A_HUMAN			17	2397	-			730					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2189A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430662	0.43122	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.47177	0.85;2.12;1.44;1.46;1.44;1.44	5.26	4.09	0.47781	.	0.101129	0.64402	D	0.000003	T	0.48021	0.1477	L	0.54323	1.7	0.80722	D	1	P;P;D;P;P;P	0.58268	0.57;0.86;0.982;0.837;0.51;0.702	B;P;P;P;B;B	0.48738	0.294;0.453;0.588;0.558;0.23;0.438	T	0.37596	-0.9699	10	0.23302	T	0.38	.	12.1475	0.54031	0.0:0.0:0.1558:0.8442	.	376;316;730;404;390;404	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	G	404;730;390;316;404;376	ENSP00000378450:D404G;ENSP00000264344:D730G;ENSP00000427189:D390G;ENSP00000421914:D316G;ENSP00000421562:D404G;ENSP00000423252:D376G	ENSP00000264344:D730G	D	-	2	0	FAM13A	89887998	1.000000	0.71417	0.970000	0.41538	0.275000	0.26752	6.022000	0.70839	1.013000	0.39391	0.533000	0.62120	GAC		0.398	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			C	89668975	T	C	89668975	3	2	156	1	0	0	0	0	1	0	0	0	5452	1667	58	4	910	4	FAM13A	4	89668975	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	902179	89668975	101485301	37	10968											
CDH18	1016	broad.mit.edu	37	chr5	19747074	19747074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctgacatttcaggcacaGtaacaatgtatggtccatct	12	13	7	9	0	3	1	1	1	2	0	4	1	4	1	1	2	1	3	1	2	4	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:19747074G>A	ENST00000507958.1	-	6	1490	c.500C>T	c.(499-501)aCt>aTt	p.T167I	CDH18_ENST00000502796.1_Missense_Mutation_p.T167I|CDH18_ENST00000382275.1_Missense_Mutation_p.T167I|CDH18_ENST00000511273.1_Missense_Mutation_p.T167I|CDH18_ENST00000274170.4_Missense_Mutation_p.T167I|CDH18_ENST00000506372.1_Missense_Mutation_p.T167I			Q13634	CAD18_HUMAN	cadherin 18, type 2	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGGCACAGTAACAATGTA	0.338																																						uc003jgd.3																			0		p.V166A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(499-501)aCt>aTt		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							124	122	123					5																	19747074		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747074G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.500C>T	5.37:g.19747074G>A	ENSP00000425093:p.Thr167Ile					CDH18_uc011cnm.2_Missense_Mutation_p.T167I|CDH18_uc003jgc.3_Missense_Mutation_p.T167I|CDH18_uc021xwu.1_Missense_Mutation_p.T167I	p.T167I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	1034	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		167			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.500C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796257	0.70567	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	L	0.32530	0.975	0.46376	D	0.999012	P;P	0.49253	0.921;0.906	P;P	0.56163	0.793;0.645	T	0.53746	-0.8395	9	.	.	.	.	16.587	0.84729	0.0:0.0:1.0:0.0	.	167;167	B4DHG6;Q13634	.;CAD18_HUMAN	I	167;167;167;167;167;167;113;167	ENSP00000371710:T167I;ENSP00000425093:T167I;ENSP00000274170:T167I;ENSP00000424931:T167I;ENSP00000422138:T167I;ENSP00000427383:T113I;ENSP00000425854:T167I	.	T	-	2	0	CDH18	19782831	1.000000	0.71417	0.818000	0.32626	0.988000	0.76386	6.208000	0.72165	2.253000	0.74438	0.591000	0.81541	ACT		0.338	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19747074	G	A	19747074	3	1	156	1	0	0	0	0	1	0	0	0	3103	1029	36	3	1912	3	CDH18	5	19747074	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		19747074	161168186	38	10969											
HEATR7B2	133558	broad.mit.edu	37	chr5	41012778	41012778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaggctctccagaccGtccagcatttcctctaggaa	8	10	11	12	1	2	2	0	1	2	1	5	3	4	3	4	3	1	3	4	3	2	3	rs565304743		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:41012778G>A	ENST00000399564.4	-	30	3492	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	MROH2B_ENST00000506092.2_Silent_p.D569D	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1014																	TCTCCAGACCGTCCAGCATTT	0.478																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(3040-3042)gaC>gaT		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							125	122	123					5																	41012778		1914	4142	6056	SO:0001819	synonymous_variant	133558						binding	g.chr5:41012778G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3042C>T	5.37:g.41012778G>A						HEATR7B2_uc003jmi.4_Silent_p.D569D	p.D1014D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			29	3532	-			1014					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3042C>T	CCDS47202.1																																																																																				0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		A	41012778	G	A	41012778	2	1	156	1	0	0	0	0	0	0	0	1	7035	1136	40	1		1	HEATR7B2	5	41012778	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	21265704	41012778	139902482	39	10970											
TTC37	9652	broad.mit.edu	37	chr5	94834176	94834176	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgataattactgtctttgTgtttgatgtgcttcagtaac	8	19	8	6	0	3	2	1	2	2	0	3	2	3	2	0	0	3	3	0	0	3	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:94834176T>A	ENST00000358746.2	-	33	3759	c.3461A>T	c.(3460-3462)cAc>cTc	p.H1154L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1154						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGTCTTTGTGTTTGATGTG	0.448																																						uc003klb.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3460-3462)cAc>cTc		Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.							209	196	201					5																	94834176		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94834176T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3461A>T	5.37:g.94834176T>A	ENSP00000351596:p.His1154Leu						p.H1154L	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			32	3758	-			1154					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3461A>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	4.725	0.134834	0.09032	.	.	ENSG00000198677	ENST00000358746	T	0.28069	1.63	5.72	0.128	0.14733	Tetratricopeptide-like helical (1);	1.475600	0.03218	N	0.177095	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.25751	T	0.34	.	0.4415	0.00487	0.2524:0.2505:0.1305:0.3666	.	1154	Q6PGP7	TTC37_HUMAN	L	1154	ENSP00000351596:H1154L	ENSP00000351596:H1154L	H	-	2	0	TTC37	94859932	0.000000	0.05858	0.035000	0.18076	0.873000	0.50193	0.627000	0.24506	0.083000	0.17047	0.460000	0.39030	CAC		0.448	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		A	94834176	T	A	94834176	3	1	156	1	0	0	0	0	1	0	0	0	16702	1696	59	5	1277	5	TTC37	5	94834176	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	53821398	94834176	86081084	40	10971											
SPOCK1	6695	broad.mit.edu	37	chr5	136476318	136476318	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcggtctggtagtcctGggtcacacacactttgtgag	7	10	14	10	1	2	1	1	1	1	0	3	1	3	1	1	4	0	1	1	4	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:136476318G>A	ENST00000394945.1	-	4	467	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SPOCK1_ENST00000282223.7_Nonsense_Mutation_p.Q100*	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	100					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTAGTCCTGGGTCACACAC	0.617																																						uc003lbo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(298-300)Cag>Tag		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.							74	60	65					5																	136476318		2203	4300	6503	SO:0001587	stop_gained	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136476318G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.298C>T	5.37:g.136476318G>A	ENSP00000378401:p.Gln100*					SPOCK1_uc003lbp.3_Nonsense_Mutation_p.Q100*	p.Q100*	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	489	-			100					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Nonsense_Mutation	SNP	ENST00000394945.1	37	c.298C>T	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	G	37	6.433033	0.97564	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	.	.	.	5.74	5.74	0.90152	.	0.208608	0.41294	D	0.000914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000282223:Q100X	Q	-	1	0	SPOCK1	136504217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.435000	0.73412	2.704000	0.92352	0.650000	0.86243	CAG		0.617	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136476318	G	A	136476318	4	1	156	1	0	0	0	0	0	1	0	0	15078	1357	47	3	1053	3	SPOCK1	5	136476318	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	41642142	136476318	44438942	41	10972											
GTF2H4	2968	broad.mit.edu	37	chr6	30876944	30876944	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccacatgtctggctgTcttcaggtgagaagcccctt	6	11	10	14	0	3	1	1	1	2	1	3	2	3	1	4	2	2	1	4	2	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:30876944T>G	ENST00000259895.4	+	2	354	c.131T>G	c.(130-132)gTc>gGc	p.V44G	GTF2H4_ENST00000376316.2_Missense_Mutation_p.V44G|GTF2H4_ENST00000539324.1_Intron|RN7SL175P_ENST00000580375.1_RNA	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	44					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCTGGCTGTCTTCAGGTGA	0.527								Nucleotide excision repair (NER)																														uc003nsa.1																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)gTc>gGc	Nucleotide excision repair (NER)	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.							43	41	42					6																	30876944		2203	4300	6503	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30876944T>G	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.131T>G	6.37:g.30876944T>G	ENSP00000259895:p.Val44Gly					GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron	p.V44G	NM_001517	NP_001508	Q92759	TF2H4_HUMAN			1	338	+			44					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.131T>G	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222166	0.79464	.	.	ENSG00000213780	ENST00000259895;ENST00000376316;ENST00000453897	T;T;T	0.55413	0.52;0.52;0.52	4.44	4.44	0.53790	.	0.202719	0.30510	U	0.009477	T	0.67078	0.2855	M	0.86864	2.845	0.80722	D	1	D;D;D	0.63046	0.992;0.965;0.98	D;D;D	0.67103	0.949;0.932;0.932	T	0.74375	-0.3686	10	0.87932	D	0	-37.9082	11.7261	0.51710	0.0:0.0:0.0:1.0	.	50;44;44	B4DNU0;Q53HH3;Q92759	.;.;TF2H4_HUMAN	G	44	ENSP00000259895:V44G;ENSP00000365493:V44G;ENSP00000410160:V44G	ENSP00000259895:V44G	V	+	2	0	GTF2H4	30984923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.699000	0.74613	1.866000	0.54105	0.459000	0.35465	GTC		0.527	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		G	30876944	T	G	30876944	3	3	156	1	0	0	0	0	1	0	0	0	6865	1667	58	5	133	5	GTF2H4	6	30876944	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		30876944	140238123	42	10973											
AARS2	57505	broad.mit.edu	37	chr6	44268962	44268962	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaggagcacagacgtgctGggggcctgctcacacagctg	9	6	15	11	1	1	1	1	0	0	1	1	2	1	2	1	3	4	5	1	3	1	1	rs185572013		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:44268962G>C	ENST00000244571.4	-	21	2726	c.2724C>G	c.(2722-2724)ccC>ccG	p.P908P	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGACGTGCTGGGGGCCTGCT	0.647																																						uc010jza.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2722-2724)ccC>ccG		Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Alanine(DB00160)						44	49	48					6																	44268962		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44268962G>C	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2724C>G	6.37:g.44268962G>C						TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	p.P908P	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2727	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		908						Silent	SNP	ENST00000244571.4	37	c.2724C>G	CCDS34464.1																																																																																				0.647	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		C	44268962	G	C	44268962	2	2	156	1	0	0	0	0	0	0	0	1	20	1335	47	5		5	AARS2	6	44268962	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	13392018	44268962	126846105	43	10974											
LGSN	51557	broad.mit.edu	37	chr6	63991036	63991036	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgctattaaaacatgtGgctcttatgttattcatttc	10	18	6	7	1	2	0	1	0	1	0	4	0	2	0	0	1	1	3	0	1	5	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:63991036G>T	ENST00000370657.4	-	4	453	c.420C>A	c.(418-420)gcC>gcA	p.A140A	LGSN_ENST00000370658.5_Silent_p.A140A			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	140					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAAAACATGTGGCTCTTATGT	0.408																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(418-420)gcC>gcA		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						129	123	126					6																	63991036		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63991036G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.420C>A	6.37:g.63991036G>T						LGSN_uc003pei.3_Silent_p.A140A	p.A140A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	454	-			140					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.420C>A	CCDS4964.1																																																																																				0.408	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		T	63991036	G	T	63991036	2	4	156	1	0	0	0	0	0	0	0	1	8759	1335	47	5		5	LGSN	6	63991036	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	19722074	63991036	107124031	44	10975											
SLC22A2	6582	broad.mit.edu	37	chr6	160679391	160679391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcggtgacgatggaCgagccaggcgtctcgtacac	8	8	12	13	5	1	1	0	1	1	0	3	4	1	2	2	3	3	1	2	3	2	2	rs112210325	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:160679391C>T	ENST00000366953.3	-	1	657	c.399G>A	c.(397-399)tcG>tcA	p.S133S	SLC22A2_ENST00000366952.1_Silent_p.S112S|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	133					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TGACGATGGACGAGCCAGGCG	0.627																																						uc003qtf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(397-399)tcG>tcA		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.							59	66	64					6																	160679391		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679391C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.399G>A	6.37:g.160679391C>T						SLC22A2_uc003qth.2_Silent_p.S133S	p.S133S	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	0	573	-		Breast(66;0.000776)|Ovarian(120;0.0303)	133					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.399G>A	CCDS5276.1																																																																																				0.627	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		T	160679391	C	T	160679391	2	4	156	1	0	0	0	0	0	0	0	1	14450	523	19	1		1	SLC22A2	6	160679391	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	96688355	160679391	10435676	45	10976											
MAD1L1	8379	broad.mit.edu	37	chr7	2269722	2269722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagatgaagttgttcaaaGatctcagggtggataaaacc	15	9	12	5	0	2	3	2	1	1	2	3	6	2	4	1	2	1	2	1	2	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:2269722G>A	ENST00000406869.1	-	3	604	c.47C>T	c.(46-48)tCt>tTt	p.S16F	MAD1L1_ENST00000265854.7_Missense_Mutation_p.S16F|MAD1L1_ENST00000402746.1_Intron|MAD1L1_ENST00000399654.2_Missense_Mutation_p.S16F			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	16					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTTGTTCAAAGATCTCAGGGT	0.537																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(46-48)tCt>tTt		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.							56	64	61					7																	2269722		2008	4167	6175	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2269722G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.47C>T	7.37:g.2269722G>A	ENSP00000385334:p.Ser16Phe					MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.3_Missense_Mutation_p.S16F	p.S16F	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	2	313	-		Ovarian(82;0.0272)	16					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.47C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044838	0.55110	.	.	ENSG00000002822	ENST00000399654;ENST00000406869;ENST00000265854;ENST00000455998;ENST00000429779	T;T;T;T;T	0.59772	1.4;1.4;1.4;0.24;1.4	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.966	T	0.75639	-0.3248	10	0.72032	D	0.01	-5.3235	16.7698	0.85534	0.0:0.0:1.0:0.0	.	16;16	A4D218;Q9Y6D9	.;MD1L1_HUMAN	F	16	ENSP00000382562:S16F;ENSP00000385334:S16F;ENSP00000265854:S16F;ENSP00000390099:S16F;ENSP00000395457:S16F	ENSP00000265854:S16F	S	-	2	0	MAD1L1	2236248	1.000000	0.71417	0.778000	0.31720	0.997000	0.91878	7.461000	0.80834	2.643000	0.89663	0.655000	0.94253	TCT		0.537	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	2269722	G	A	2269722	3	1	156	1	0	0	0	0	1	0	0	0	9147	942	33	3	2177	3	MAD1L1	7	2269722	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		2269722	156868941	46	10977											
SDK1	221935	broad.mit.edu	37	chr7	4009042	4009042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgaatgcatcggccaCgctcactgtgtggagtaagg	8	9	12	12	2	1	1	1	1	0	0	3	2	2	2	2	3	1	3	2	3	2	1	rs145189416	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:4009042C>T	ENST00000404826.2	+	11	1839	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	SDK1_ENST00000389531.3_Missense_Mutation_p.T567M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	567	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCATCGGCCACGCTCACTGTG	0.587													C|||	2	0.000399361	8e-04	0	5008	,	,		15964	0.001		0	False		,,,				2504	0					uc003smx.3																			0		p.T567T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1699-1701)aCg>aTg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	80	80	80		1700	-1.5	0	7	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK1	NM_152744.3	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	567/2214	4009042	3,13003	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4009042C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1700C>T	7.37:g.4009042C>T	ENSP00000385899:p.Thr567Met						p.T567M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1839	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	567			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1700C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425247	0.04701	2.27E-4	2.33E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68903	-0.36;-0.36	5.63	-1.52	0.08637	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.914660	0.09343	N	0.815194	T	0.52191	0.1719	L	0.48362	1.52	0.09310	N	1	B	0.24368	0.102	B	0.20767	0.031	T	0.37150	-0.9718	10	0.30854	T	0.27	.	4.8079	0.13329	0.2345:0.292:0.0:0.4735	.	567	Q7Z5N4	SDK1_HUMAN	M	567	ENSP00000385899:T567M;ENSP00000374182:T567M	ENSP00000374182:T567M	T	+	2	0	SDK1	3975568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.470000	0.02346	-0.119000	0.11830	-0.812000	0.03155	ACG		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4009042	C	T	4009042	3	4	156	1	0	0	0	0	1	0	0	0	13968	536	19	1	1742	1	SDK1	7	4009042	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1739320	4009042	155129621	47	10978											
POM121L12	285877	broad.mit.edu	37	chr7	53103741	53103741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaggggggctgtgtcGtgcctggaacccaggacgga	9	6	17	9	2	0	1	0	1	0	0	1	4	0	4	2	6	2	1	2	6	2	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:53103741G>A	ENST00000408890.4	+	1	393	c.377G>A	c.(376-378)cGt>cAt	p.R126H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	126										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCTGTGTCGTGCCTGGAAC	0.701																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(376-378)cGt>cAt		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							30	35	33					7																	53103741		1986	4136	6122	SO:0001583	missense	285877							g.chr7:53103741G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.377G>A	7.37:g.53103741G>A	ENSP00000386133:p.Arg126His						p.R126H	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	393	+			126					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.377G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176664	0.38413	.	.	ENSG00000221900	ENST00000408890	T	0.23348	1.91	2.69	1.78	0.24846	.	.	.	.	.	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.57324	0.818	T	0.09185	-1.0686	9	0.56958	D	0.05	.	6.0616	0.19841	0.1629:0.0:0.8371:0.0	.	126	Q8N7R1	P1L12_HUMAN	H	126	ENSP00000386133:R126H	ENSP00000386133:R126H	R	+	2	0	POM121L12	53071235	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.085000	0.11250	0.433000	0.26313	0.462000	0.41574	CGT		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103741	G	A	53103741	3	1	156	1	0	0	0	0	1	0	0	0	12241	1145	40	1	379	1	POM121L12	7	53103741	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	49094699	53103741	106034922	48	10979											
DGKI	9162	broad.mit.edu	37	chr7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaggtctcccgagaCgttggtctccagccacaggt	8	8	13	12	2	2	2	0	0	2	2	4	3	2	2	3	3	2	3	3	3	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:137363356C>T	ENST00000288490.5	-	3	553	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_ENST00000446122.1_Missense_Mutation_p.V185I|DGKI_ENST00000424189.2_Missense_Mutation_p.V185I|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	185					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507																																						uc003vtt.3																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(553-555)Gtc>Atc		Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.							167	154	158					7																	137363356		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137363356C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.553G>A	7.37:g.137363356C>T	ENSP00000288490:p.Val185Ile					DGKI_uc003vtu.3_5'UTR	p.V185I	NM_004717	NP_004708	O75912	DGKI_HUMAN			2	554	-			185					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.553G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502600	0.64298	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.84660	-1.88;-1.88	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.112824	0.64402	D	0.000008	T	0.79667	0.4485	L	0.54323	1.7	0.35774	D	0.821112	P	0.37525	0.598	B	0.22601	0.04	T	0.82756	-0.0300	10	0.26408	T	0.33	.	17.9582	0.89076	0.0:1.0:0.0:0.0	.	185	O75912	DGKI_HUMAN	I	133;185;185;185	ENSP00000288490:V185I;ENSP00000399131:V185I	ENSP00000288490:V185I	V	-	1	0	DGKI	137013896	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.667000	0.54547	2.534000	0.85438	0.467000	0.42956	GTC		0.507	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		T	137363356	C	T	137363356	3	4	156	1	0	0	0	0	1	0	0	0	4471	536	19	1	2772	1	DGKI	7	137363356	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	84259615	137363356	21775307	49	10980											
HTR5A	3361	broad.mit.edu	37	chr7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctccaacgtcatgatcGcgctcacctgggcactctcc	6	9	9	17	4	4	1	2	1	2	0	7	1	4	1	3	1	1	2	3	1	1	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:154863096G>A	ENST00000287907.2	+	1	1063	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGTCATGATCGCGCTCACCTG	0.627																																						uc003wlu.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(487-489)Gcg>Acg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.							102	74	84					7																	154863096		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863096G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.487G>A	7.37:g.154863096G>A	ENSP00000287907:p.Ala163Thr					LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	p.A163T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	0	551	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	163					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.487G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	6.284	0.420448	0.11928	.	.	ENSG00000157219	ENST00000287907	T	0.39997	1.05	4.75	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.29061	0.0722	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.30031	-0.9992	10	0.21540	T	0.41	.	7.9454	0.29982	0.2722:0.3975:0.3303:0.0	.	163	P47898	5HT5A_HUMAN	T	163	ENSP00000287907:A163T	ENSP00000287907:A163T	A	+	1	0	HTR5A	154494029	0.004000	0.15560	0.002000	0.10522	0.334000	0.28698	1.467000	0.35321	-0.612000	0.05701	-0.176000	0.13171	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		A	154863096	G	A	154863096	3	1	156	1	0	0	0	0	1	0	0	0	7450	1087	38	1	489	1	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	17499740	154863096	4275567	50	10981											
EN2	2020	broad.mit.edu	37	chr7	155251752	155251752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgctactcggaccggccttCttcaggtgagcccgcgggga	5	7	15	14	5	2	1	1	1	1	0	3	3	2	3	3	5	2	1	3	5	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:155251752C>T	ENST00000297375.4	+	1	929	c.680C>T	c.(679-681)tCt>tTt	p.S227F	AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	227					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCGGCCTTCTTCAGGTGAG	0.726																																						uc003wmb.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(679-681)tCt>tTt		Homo sapiens engrailed homeobox 2 (EN2), mRNA.							8	9	9					7																	155251752		1953	4132	6085	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155251752C>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"Homeoboxes / ANTP class : NKL subclass"	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.680C>T	7.37:g.155251752C>T	ENSP00000297375:p.Ser227Phe						p.S227F	NM_001427	NP_001418	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	929	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	227					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.680C>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033864	0.93575	.	.	ENSG00000164778	ENST00000297375	D	0.92299	-3.01	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.96242	0.9176	10	0.46703	T	0.11	-3.1947	16.9987	0.86376	0.0:1.0:0.0:0.0	.	227	P19622	HME2_HUMAN	F	227	ENSP00000297375:S227F	ENSP00000297375:S227F	S	+	2	0	EN2	154944513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.326000	0.79133	2.001000	0.58596	0.561000	0.74099	TCT		0.726	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		T	155251752	C	T	155251752	3	4	156	1	0	0	0	0	1	0	0	0	5110	913	32	3	682	3	EN2	7	155251752	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	388656	155251752	3886911	51	10982											
LMBR1	64327	broad.mit.edu	37	chr7	156521400	156521400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctttcccatgctgaagCcttttttcgcctctctatta	6	19	4	12	1	2	1	0	1	2	0	5	1	3	1	3	0	2	1	3	0	3	7			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:156521400C>G	ENST00000353442.5	-	11	1089	c.853G>C	c.(853-855)Gct>Cct	p.A285P	LMBR1_ENST00000540390.1_Missense_Mutation_p.A264P|LMBR1_ENST00000359422.4_Missense_Mutation_p.A133P|LMBR1_ENST00000354505.4_Missense_Mutation_p.A326P	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	285					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGCTGAAGCCTTTTTTCGC	0.299																																						uc010lqn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(976-978)Gct>Cct		Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.							84	87	86					7																	156521400		2203	4299	6502	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156521400C>G	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.853G>C	7.37:g.156521400C>G	ENSP00000326604:p.Ala285Pro					LMBR1_uc003wmv.4_Missense_Mutation_p.A133P|LMBR1_uc003wmw.4_Missense_Mutation_p.A285P|LMBR1_uc003wmx.4_Missense_Mutation_p.A133P|LMBR1_uc011kvx.2_Missense_Mutation_p.A264P	p.A326P	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	11	1191	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	285					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.976G>C	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687967	0.88639	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.02	5.02	0.67125	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	T	0.56251	-0.8010	10	0.66056	D	0.02	-11.0289	17.9442	0.89035	0.0:1.0:0.0:0.0	.	264;326;285	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	P	285;133;324;326;264	ENSP00000326604:A285P;ENSP00000352392:A133P;ENSP00000408256:A324P;ENSP00000346500:A326P;ENSP00000445509:A264P	ENSP00000326604:A285P	A	-	1	0	LMBR1	156214161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.516000	0.73755	2.328000	0.79073	0.655000	0.94253	GCT		0.299	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		G	156521400	C	G	156521400	3	3	156	1	0	0	0	0	1	0	0	0	8840	739	26	5	647	5	LMBR1	7	156521400	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1269648	156521400	2617263	52	10983											
TUSC3	7991	broad.mit.edu	37	chr8	15508246	15508246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatactggcgaactcctggCgctattcatctgctttttgt	8	15	8	10	2	2	0	1	0	1	0	3	1	3	0	1	2	3	2	1	2	4	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:15508246C>T	ENST00000503731.1	+	3	497	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	TUSC3_ENST00000509380.1_Missense_Mutation_p.R117C|TUSC3_ENST00000382020.4_Missense_Mutation_p.R117C|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Missense_Mutation_p.R117C	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	117	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R117C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAACTCCTGGCGCTATTCATC	0.398																																						uc003wwt.3																			1	Substitution - Missense(1)	p.R117C(2)|p.R117H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(349-351)Cgc>Tgc		Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.							232	225	228					8																	15508246		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15508246C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.349C>T	8.37:g.15508246C>T	ENSP00000424544:p.Arg117Cys					TUSC3_uc003wwu.3_Missense_Mutation_p.R117C	p.R117C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	2	693	+			117					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.349C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219528	0.95139	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.6	5.6	0.85130	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.99;0.985;0.992;0.993;0.993;0.997	T	0.70033	-0.4983	10	0.44086	T	0.13	-12.7594	18.9923	0.92798	0.0:1.0:0.0:0.0	.	117;117;117;117;117;117	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	C	117	ENSP00000371450:R117C;ENSP00000425777:R117C;ENSP00000423426:R117C;ENSP00000424544:R117C	ENSP00000221167:R117C	R	+	1	0	TUSC3	15552617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.644000	0.67902	2.805000	0.96524	0.655000	0.94253	CGC		0.398	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		T	15508246	C	T	15508246	3	4	156	1	0	0	0	0	1	0	0	0	16775	768	27	1	359	1	TUSC3	8	15508246	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		15508246	130855776	53	10984											
MSR1	4481	broad.mit.edu	37	chr8	16021625	16021625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgttcccaatctttcaGtctgagatcattagtgatgt	11	15	8	7	0	4	3	2	2	2	2	5	4	5	3	1	0	0	1	1	0	3	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:16021625G>C	ENST00000262101.5	-	5	887	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	MSR1_ENST00000445506.2_Missense_Mutation_p.L274V|MSR1_ENST00000536385.1_Missense_Mutation_p.L30V|MSR1_ENST00000381998.4_Missense_Mutation_p.L256V|MSR1_ENST00000350896.3_Missense_Mutation_p.L256V|MSR1_ENST00000355282.2_Missense_Mutation_p.L256V			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	256					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAATCTTTCAGTCTGAGATCA	0.308																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(820-822)Ctg>Gtg		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.							177	157	164					8																	16021625		2203	4299	6502	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16021625G>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.766C>G	8.37:g.16021625G>C	ENSP00000262101:p.Leu256Val					MSR1_uc003wwz.3_Missense_Mutation_p.L256V|MSR1_uc003wxa.3_Missense_Mutation_p.L256V|MSR1_uc003wxb.3_Missense_Mutation_p.L256V|MSR1_uc011kxz.2_Missense_Mutation_p.L30V	p.L274V	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	884	-			256			Collagen-like.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.820C>G	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008309	0.54361	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.76;-2.96;-2.91	4.9	3.1	0.35709	Macrophage scavenger receptor (1);	0.000000	0.44483	D	0.000447	D	0.94499	0.8229	M	0.78637	2.42	0.31969	N	0.607459	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.991;0.996;0.996;0.991	D	0.92736	0.6204	10	0.87932	D	0	.	5.7202	0.17982	0.2933:0.0:0.7067:0.0	.	30;274;256;256;256	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	V	256;256;274;256;46;256;30	ENSP00000262100:L256V;ENSP00000262101:L256V;ENSP00000405453:L274V;ENSP00000347430:L256V;ENSP00000430536:L46V;ENSP00000371428:L256V;ENSP00000444414:L30V	ENSP00000262101:L256V	L	-	1	2	MSR1	16065996	0.998000	0.40836	0.998000	0.56505	0.851000	0.48451	0.903000	0.28475	1.386000	0.46466	0.655000	0.94253	CTG		0.308	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			C	16021625	G	C	16021625	3	2	156	1	0	0	0	0	1	0	0	0	9886	1020	36	5	661	5	MSR1	8	16021625	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	513379	16021625	130342397	54	10985											
EFCAB1	79645	broad.mit.edu	37	chr8	49643175	49643175	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatacatttacacagccAtcattatctttatcaaaacc	15	13	1	12	0	3	0	2	0	1	0	4	0	4	0	3	0	4	0	3	0	7	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:49643175A>G	ENST00000262103.3	-	3	323	c.243T>C	c.(241-243)gaT>gaC	p.D81D	EFCAB1_ENST00000523092.1_Silent_p.D29D|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Silent_p.D29D	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	81	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTACACAGCCATCATTATCTT	0.368																																						uc003xqo.2																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(241-243)gaT>gaC		Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.							116	105	109					8																	49643175		2203	4300	6503	SO:0001819	synonymous_variant	79645						calcium ion binding	g.chr8:49643175A>G		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.243T>C	8.37:g.49643175A>G						EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	p.D81D	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN			2	403	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	81			EF-hand 1.		B4DSB4|E7EVN7	Silent	SNP	ENST00000262103.3	37	c.243T>C	CCDS6145.1																																																																																				0.368	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		G	49643175	A	G	49643175	2	3	156	1	0	0	0	0	0	0	0	1	4933	214	8	4		4	EFCAB1	8	49643175	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	33621550	49643175	96720847	55	10986											
COLEC10	10584	broad.mit.edu	37	chr8	120118082	120118082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagaaattctactacatCgtgcaggaagagaagaacta	18	7	10	6	1	1	3	0	0	1	3	2	7	1	4	0	1	4	1	0	1	8	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:120118082C>T	ENST00000332843.2	+	6	527	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	162	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TCTACTACATCGTGCAGGAAG	0.458																																						uc003yoo.3																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(484-486)atC>atT		Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.							72	56	61					8																	120118082		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118082C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.486C>T	8.37:g.120118082C>T							p.I162I	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		5	583	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		162			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.486C>T	CCDS6327.1																																																																																				0.458	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			T	120118082	C	T	120118082	2	4	156	1	0	0	0	0	0	0	0	1	3710	874	31	2		2	COLEC10	8	120118082	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	70474907	120118082	26245940	56	10987											
CYP11B1	1584	broad.mit.edu	37	chr8	143956451	143956451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaagccaaagggcacGtggtagaagttcctgccgga	12	6	13	10	2	0	1	0	0	0	1	1	2	1	2	4	3	3	3	4	3	4	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:143956451G>A	ENST00000292427.4	-	8	1352	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	CYP11B1_ENST00000377675.3_Silent_p.H511H|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	440					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAGGGCACGTGGTAGAAGT	0.652									Familial Hyperaldosteronism type I																													uc010mey.3																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1531-1533)caC>caT		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Mitotane(DB00648)						76	85	82					8																	143956451		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956451G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1320C>T	8.37:g.143956451G>A						CYP11B1_uc010mex.3_Silent_p.H139H|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.H440H|CYP11B1_uc003yxj.3_Intron	p.H511H	NM_000497	NP_000488	P15538	C11B1_HUMAN			9	1540	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		440					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.1533C>T	CCDS6392.1																																																																																				0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			A	143956451	G	A	143956451	2	1	156	1	0	0	0	0	0	0	0	1	4145	1136	40	1		1	CYP11B1	8	143956451	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	23838369	143956451	2407571	57	10988											
TAF1L	138474	broad.mit.edu	37	chr9	32633905	32633905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgcccaagagaattCgactcttcttcagagatgat	10	14	8	9	1	3	3	1	1	2	2	4	6	3	3	1	0	1	1	1	0	2	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:32633905C>A	ENST00000242310.4	-	1	1762	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	558					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAGAGAATTCGACTCTTCTT	0.458																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1672-1674)cGa>cTa		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							226	230	228					9																	32633905		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633905C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1673G>T	9.37:g.32633905C>A	ENSP00000418379:p.Arg558Leu					AX747113_uc003zrh.1_Non-coding_Transcript	p.R558L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	1763	-			558					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1673G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551766	0.65311	.	.	ENSG00000122728	ENST00000242310	T	0.09073	3.02	1.16	-0.372	0.12520	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.40543	1.245	0.46376	D	0.999013	B	0.27286	0.174	B	0.24155	0.051	T	0.28870	-1.0030	10	0.87932	D	0	.	5.649	0.17606	0.0:0.7546:0.0:0.2454	.	558	Q8IZX4	TAF1L_HUMAN	L	558	ENSP00000418379:R558L	ENSP00000418379:R558L	R	-	2	0	TAF1L	32623905	1.000000	0.71417	0.985000	0.45067	0.580000	0.36256	3.548000	0.53670	-0.347000	0.08299	0.195000	0.17529	CGA		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32633905	C	A	32633905	3	1	156	1	0	0	0	0	1	0	0	0	15520	884	31	5	3811	5	TAF1L	9	32633905	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		32633905	108579526	58	10989											
NOL6	65083	broad.mit.edu	37	chr9	33465223	33465223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcggaggggtgaagggcTcagggtgcaggaaaagggca	11	4	19	7	1	1	1	1	1	0	0	2	3	1	3	1	7	1	3	1	7	3	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:33465223T>C	ENST00000379471.2	-	20	2750	c.2663A>G	c.(2662-2664)gAg>gGg	p.E888G	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.E836G			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	888					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGAAGGGCTCAGGGTGCAG	0.602																																						uc003zsz.3																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2662-2664)gAg>gGg		Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.							31	24	26					9																	33465223		2202	4297	6499	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33465223T>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2663A>G	9.37:g.33465223T>C	ENSP00000368784:p.Glu888Gly					NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.E885G|NOL6_uc011lob.2_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	p.E888G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	19	2764	-			888					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2663A>G		.	.	.	.	.	.	.	.	.	.	T	16.25	3.070754	0.55539	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.43294	0.95;0.95;0.95	5.55	3.04	0.35103	.	0.158829	0.56097	D	0.000033	T	0.31263	0.0791	L	0.52573	1.65	0.40897	D	0.984124	B;B;B;B	0.21071	0.03;0.051;0.024;0.03	B;B;B;B	0.17433	0.018;0.015;0.01;0.018	T	0.11916	-1.0568	10	0.22706	T	0.39	.	6.8241	0.23872	0.1139:0.0:0.4135:0.4726	.	836;885;888;888	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	G	888;888;444;888;836	ENSP00000297990:E888G;ENSP00000368784:E888G;ENSP00000395915:E836G	ENSP00000297990:E888G	E	-	2	0	NOL6	33455223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.671000	0.68095	2.119000	0.64992	0.379000	0.24179	GAG		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		C	33465223	T	C	33465223	3	2	156	1	0	0	0	0	1	0	0	0	10525	1551	54	4	805	4	NOL6	9	33465223	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	831318	33465223	107748208	59	10990											
TRPM3	80036	broad.mit.edu	37	chr9	73167906	73167906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatgatgagctgatacCtctgaaacttccagacttgg	12	11	9	9	0	2	5	1	4	1	1	3	5	3	5	2	1	3	1	2	1	3	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:73167906C>T	ENST00000377111.2	-	23	3635	c.3392G>A	c.(3391-3393)aGg>aAg	p.R1131K	TRPM3_ENST00000358082.3_Missense_Mutation_p.R993K|TRPM3_ENST00000396285.1_Missense_Mutation_p.R990K|TRPM3_ENST00000377110.3_Missense_Mutation_p.R1131K|TRPM3_ENST00000360823.2_Missense_Mutation_p.R993K|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1003K|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1158K|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1135K|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1003K|TRPM3_ENST00000377105.1_Missense_Mutation_p.R990K|TRPM3_ENST00000396280.5_Missense_Mutation_p.R980K|TRPM3_ENST00000408909.2_Missense_Mutation_p.R990K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1156					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGCTGATACCTCTGAAACTT	0.423																																						uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3391-3393)aGg>aAg		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							131	134	133					9																	73167906		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73167906C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3392G>A	9.37:g.73167906C>T	ENSP00000366315:p.Arg1131Lys					TRPM3_uc004ahu.3_Missense_Mutation_p.R973K|TRPM3_uc004ahv.3_Missense_Mutation_p.R933K|TRPM3_uc004ahw.3_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.3_Missense_Mutation_p.R990K|TRPM3_uc004ahy.3_Missense_Mutation_p.R993K|TRPM3_uc004ahz.3_Missense_Mutation_p.R980K|TRPM3_uc004aia.3_Missense_Mutation_p.R978K|TRPM3_uc004aib.3_Missense_Mutation_p.R968K|TRPM3_uc004aic.3_Missense_Mutation_p.R1131K	p.R1131K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			22	3636	-			1156					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3392G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.303694	0.95601	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.87971	2.92	0.46654	D	0.999146	D;D;D;D;D;D;D;D	0.89917	0.993;0.999;0.996;0.989;0.989;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.961;0.976;0.995;0.915;0.915;0.995;0.994;0.997	D	0.85183	0.1005	10	0.87932	D	0	-23.9628	20.063	0.97692	0.0:1.0:0.0:0.0	.	1131;1131;1121;1135;993;990;1103;990	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	K	1131;1131;1003;993;990;1135;990;990;1003;993;1158	ENSP00000366315:R1131K;ENSP00000366314:R1131K;ENSP00000366310:R1003K;ENSP00000354066:R993K;ENSP00000366309:R990K;ENSP00000350140:R1135K;ENSP00000386127:R990K;ENSP00000379581:R990K;ENSP00000379587:R1003K;ENSP00000350791:R993K;ENSP00000389542:R1158K	ENSP00000350140:R1135K	R	-	2	0	TRPM3	72357726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.741000	0.93983	0.650000	0.86243	AGG		0.423	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73167906	C	T	73167906	3	4	156	1	0	0	0	0	1	0	0	0	16584	681	24	3	1743	3	TRPM3	9	73167906	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	39702683	73167906	68045525	60	10991											
IKBKAP	8518	broad.mit.edu	37	chr9	111658909	111658909	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactcacagcatcaggaTcagagggagcatttcctaac	13	7	9	12	0	3	1	3	0	0	1	4	3	4	3	1	2	4	3	1	2	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:111658909T>A	ENST00000374647.5	-	25	2910	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D519V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	868					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCATCAGGATCAGAGGGAGC	0.368																																						uc004bdm.4																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2602-2604)gAt>gTt		Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.							90	83	85					9																	111658909		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111658909T>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2603A>T	9.37:g.111658909T>A	ENSP00000363779:p.Asp868Val					IKBKAP_uc004bdl.3_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.2_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.3_Missense_Mutation_p.D519V	p.D868V	NM_003640	NP_003631	O95163	ELP1_HUMAN			24	3123	-			868					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2603A>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	5.756	0.323832	0.10900	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.29655	1.95;1.56	5.52	-4.5	0.03493	.	0.988064	0.08265	N	0.972402	T	0.11537	0.0281	N	0.12182	0.205	0.21473	N	0.999679	B	0.02656	0.0	B	0.04013	0.001	T	0.27468	-1.0073	10	0.25106	T	0.35	-0.415	0.3565	0.00358	0.2368:0.2268:0.1596:0.3767	.	868	O95163	ELP1_HUMAN	V	868;519	ENSP00000363779:D868V;ENSP00000439367:D519V	ENSP00000363779:D868V	D	-	2	0	IKBKAP	110698730	0.000000	0.05858	0.137000	0.22149	0.460000	0.32559	-0.945000	0.03909	-0.550000	0.06183	-0.624000	0.04008	GAT		0.368	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			A	111658909	T	A	111658909	3	1	156	1	0	0	0	0	1	0	0	0	7610	1435	50	5	1447	5	IKBKAP	9	111658909	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	38491003	111658909	29554522	61	10992											
SPTAN1	6709	broad.mit.edu	37	chr9	131371470	131371470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctcaaaccctccaacaGttcagccgggatgtggatga	12	8	10	11	1	2	1	2	1	1	0	4	4	3	3	3	2	3	1	3	2	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:131371470G>C	ENST00000372731.4	+	36	4775	c.4665G>C	c.(4663-4665)caG>caC	p.Q1555H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1555H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1555H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1555					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTCCAACAGTTCAGCCGGG	0.473																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4663-4665)caG>caC		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.							118	111	114					9																	131371470		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371470G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4665G>C	9.37:g.131371470G>C	ENSP00000361816:p.Gln1555His					SPTAN1_uc004bvm.4_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.4_Missense_Mutation_p.Q1535H	p.Q1555H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			35	4807	+			1555					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4665G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587180	0.66105	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55413	0.52;0.52;0.52	5.65	3.81	0.43845	.	0.128782	0.56097	D	0.000027	T	0.68778	0.3038	M	0.72576	2.205	0.80722	D	1	D;D;D	0.76494	0.999;0.965;0.971	D;P;P	0.76071	0.987;0.466;0.601	T	0.72371	-0.4314	10	0.87932	D	0	.	11.5544	0.50739	0.1431:0.0:0.8569:0.0	.	1535;1555;1555	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	1555;1555;1555;1535	ENSP00000350882:Q1555H;ENSP00000361816:Q1555H;ENSP00000361824:Q1555H	ENSP00000350882:Q1555H	Q	+	3	2	SPTAN1	130411291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.900000	0.56295	1.386000	0.46466	0.655000	0.94253	CAG		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		C	131371470	G	C	131371470	3	2	156	1	0	0	0	0	1	0	0	0	15116	1020	36	5	4803	5	SPTAN1	9	131371470	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	19712561	131371470	9841961	62	10993											
LHX3	8022	broad.mit.edu	37	chr9	139092592	139092592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacagccagcgcacagCgggatctctgtgggcacgag	8	6	15	12	3	2	0	1	0	1	0	3	2	2	1	1	3	3	2	1	3	0	0	rs183980824		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:139092592C>T	ENST00000371748.5	-	2	183	c.87G>A	c.(85-87)ccG>ccA	p.P29P	LHX3_ENST00000371746.3_Silent_p.P34P	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	29					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGCGCACAGCGGGATCTCTG	0.632													C|||	1	0.000199681	0	0	5008	,	,		19257	0		0.001	False		,,,				2504	0					uc004cgz.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(100-102)ccG>ccA		Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.		C	,	0,4404		0,0,2202	63	62	62		102,87	-5.4	1	9		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LHX3	NM_014564.3,NM_178138.4	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	34/403,29/398	139092592	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139092592C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.87G>A	9.37:g.139092592C>T						LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Silent_p.P29P	p.P34P	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	1	221	-		Myeloproliferative disorder(178;0.0511)	29	C -> R (in Ref. 2; AAF17291).		LIM zinc-binding 1.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	ENST00000371748.5	37	c.102G>A	CCDS6994.1																																																																																				0.632	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			T	139092592	C	T	139092592	2	4	156	1	0	0	0	0	0	0	0	1	8772	755	27	1		1	LHX3	9	139092592	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	7721122	139092592	2120839	63	10994											
OR4P4	81300	broad.mit.edu	37	chr11	55406513	55406513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtataccatcagagcatactCtgcagagagacgcagcaaag	15	6	10	10	1	2	3	1	0	1	3	2	4	2	3	1	0	5	5	1	0	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55406513C>T	ENST00000314612.2	+	1	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S227F(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGAGCATACTCTGCAGAGAGA	0.393																																						uc010rij.2																			1	Substitution - Missense(1)	p.S227F(2)	lung(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(679-681)tCt>tTt		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							178	126	144					11																	55406513		2181	4026	6207	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406513C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.680C>T	11.37:g.55406513C>T	ENSP00000324831:p.Ser227Phe						p.S227F	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	680	+			227						Missense_Mutation	SNP	ENST00000314612.2	37	c.680C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711093	0.30322	.	.	ENSG00000181927	ENST00000314612	T	0.00340	8.04	5.51	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.809565	0.10453	N	0.672817	T	0.00936	0.0031	M	0.91920	3.255	0.09310	N	1	P	0.38767	0.646	P	0.55871	0.786	T	0.22556	-1.0213	10	0.87932	D	0	-3.3875	8.8247	0.35047	0.1492:0.7716:0.0:0.0792	.	227	Q8NGL7	OR4P4_HUMAN	F	227	ENSP00000324831:S227F	ENSP00000324831:S227F	S	+	2	0	OR4P4	55163089	0.012000	0.17670	0.002000	0.10522	0.019000	0.09904	1.469000	0.35343	0.677000	0.31305	0.637000	0.83480	TCT		0.393	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		T	55406513	C	T	55406513	3	4	156	1	0	0	0	0	1	0	0	0	11080	913	32	3	682	3	OR4P4	11	55406513	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		55406513	79600003	64	10995											
OR5D16	390144	broad.mit.edu	37	chr11	55606713	55606713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttccctgacactcgcGtgctctgctttaaagttatc	7	14	8	12	2	1	1	0	1	1	0	4	1	2	1	1	0	2	5	1	0	3	4	rs201981572		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55606713G>A	ENST00000378396.1	+	1	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													-|||	1	0.000199681	0	0	5008	,	,		19905	0		0.001	False		,,,				2504	0					uc010rio.2																			0		p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(484-486)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							155	139	144					11																	55606713		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606713G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.486G>A	11.37:g.55606713G>A							p.A162A	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	486	+		all_epithelial(135;0.208)	162					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.486G>A	CCDS31512.1																																																																																				0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606713	G	A	55606713	2	1	156	1	0	0	0	0	0	0	0	1	11156	1132	40	1		1	OR5D16	11	55606713	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	200200	55606713	79399803	65	10996											
PVRL1	5818	broad.mit.edu	37	chr11	119535607	119535607	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctcatccacggtgaaGtagggccgcttggcgtcctc	5	9	13	14	4	1	1	1	1	0	0	5	1	3	1	4	4	0	2	4	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:119535607G>C	ENST00000264025.3	-	6	1934	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	468					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCACGGTGAAGTAGGGCCGCT	0.667																																						uc001pwv.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1402-1404)taC>taG		Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.							52	45	47					11																	119535607		2199	4295	6494	SO:0001587	stop_gained	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535607G>C	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1404C>G	11.37:g.119535607G>C	ENSP00000264025:p.Tyr468*					PVRL1_uc001pwu.1_Intron	p.Y468*	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	5	1576	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	468					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Nonsense_Mutation	SNP	ENST00000264025.3	37	c.1404C>G	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	38	7.141812	0.98092	.	.	ENSG00000110400	ENST00000264025	.	.	.	4.08	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8661	0.52495	0.0887:0.0:0.9113:0.0	.	.	.	.	X	468	.	ENSP00000264025:Y468X	Y	-	3	2	PVRL1	119040817	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	1.307000	0.33516	1.027000	0.39758	-0.354000	0.07668	TAC		0.667	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			C	119535607	G	C	119535607	4	2	156	1	0	0	0	0	0	1	0	0	12839	1024	36	5	539	5	PVRL1	11	119535607	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	63928894	119535607	15470909	66	10997											
LEPREL2	27239	broad.mit.edu	37	chr12	6939135	6939135	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgaatgtcgggagttcGgccccagagcttccgggacc	8	6	14	13	4	0	2	0	0	0	2	3	5	1	4	4	3	1	2	4	3	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:6939135G>A	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGGGAGTTCGGCCCCAGAGC	0.602																																						uc001qra.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(607-609)cGg>cAg		Homo sapiens leprecan-like 2 (LEPREL2), mRNA.							58	63	62					12																	6939135		1987	4159	6146	SO:0001628	intergenic_variant	10536					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6939135G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538			12.37:g.6939135G>A						GPR162_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	p.R203Q	NM_014262	NP_055077	Q16538	GP162_HUMAN			2	642	+			0					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.608G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908313	0.52333	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.57752	0.38;0.38	4.85	-0.966	0.10320	.	0.439392	0.25192	N	0.032445	T	0.40694	0.1127	.	.	.	0.09310	N	1	D;B	0.63046	0.992;0.0	P;B	0.45538	0.484;0.0	T	0.38845	-0.9642	9	0.38643	T	0.18	-4.5751	6.9396	0.24486	0.3833:0.1198:0.4969:0.0	.	204;227	Q8IVL6;Q13513	P3H3_HUMAN;.	Q	203;19	ENSP00000379951:R203Q;ENSP00000290510:R19Q	ENSP00000290510:R19Q	R	+	2	0	LEPREL2	6809396	0.004000	0.15560	0.052000	0.19188	0.919000	0.55068	0.217000	0.17603	-0.321000	0.08627	-0.458000	0.05436	CGG		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		A	6939135	G	A	6939135	1	1	156	0	1	0	0	0	0	0	0	0	8731	1116	39	2		2	LEPREL2	12	6939135	IGR	SNP	G	TCGA-19-2623-01A-01D-1495-08		6939135	126912760	67	10998											
C12orf39	80763	broad.mit.edu	37	chr12	21681996	21681996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaccatcttactggcGtcccttcagaaatcaccaga	12	8	7	14	1	3	2	2	0	1	2	4	2	4	2	3	1	3	2	3	1	3	2	rs547568893		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:21681996G>A	ENST00000256969.2	+	5	436	c.270G>A	c.(268-270)gcG>gcA	p.A90A	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		90					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTTACTGGCGTCCCTTCAGA	0.438													G|||	1	0.000199681	0	0.0014	5008	,	,		18861	0		0	False		,,,				2504	0					uc001rfa.1																			0				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(268-270)gcG>gcA		Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.							152	150	150					12																	21681996		2203	4300	6503	SO:0001819	synonymous_variant	80763					extracellular region|nucleus|transport vesicle		g.chr12:21681996G>A																												ENST00000256969.2:c.270G>A	12.37:g.21681996G>A						C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript	p.A90A	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN			4	421	+			90					B3KND6	Silent	SNP	ENST00000256969.2	37	c.270G>A	CCDS31757.1																																																																																				0.438	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			A	21681996	G	A	21681996	2	1	156	1	0	0	0	0	0	0	0	1	1684	1132	40	1		1	C12orf39	12	21681996	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	14742861	21681996	112169899	68	10999											
ITPR2	3709	broad.mit.edu	37	chr12	26628304	26628304	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaccctcatcatccccAtggtcacattccaatccttg	8	12	3	18	0	4	0	3	0	1	0	8	0	7	0	6	1	0	0	6	1	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:26628304A>G	ENST00000381340.3	-	45	6683	c.6267T>C	c.(6265-6267)caT>caC	p.H2089H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2089					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATCATCCCCATGGTCACATT	0.368																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6265-6267)caT>caC		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							106	110	109					12																	26628304		1968	4168	6136	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26628304A>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6267T>C	12.37:g.26628304A>G						ITPR2_uc009zjg.1_Silent_p.H240H	p.H2089H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			44	6684	-	Colorectal(261;0.0847)		2089					O94773	Silent	SNP	ENST00000381340.3	37	c.6267T>C	CCDS41764.1																																																																																				0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		G	26628304	A	G	26628304	2	3	156	1	0	0	0	0	0	0	0	1	7921	214	8	4		4	ITPR2	12	26628304	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	4946308	26628304	107223591	69	11000											
SFRS2IP	9169	broad.mit.edu	37	chr12	46321868	46321868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactgtacatacatctGtctttacctctgattgtgaa	11	15	7	8	0	3	3	0	3	3	0	3	4	3	3	1	0	4	1	1	0	5	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:46321868G>C	ENST00000369367.3	-	11	1849	c.1616C>G	c.(1615-1617)aCa>aGa	p.T539R	SCAF11_ENST00000419565.2_Missense_Mutation_p.T539R|SCAF11_ENST00000465950.1_Missense_Mutation_p.T224R|SCAF11_ENST00000549162.1_Missense_Mutation_p.T347R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	539					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACATACATCTGTCTTTACCTC	0.363																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1615-1617)aCa>aGa		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.							111	103	105					12																	46321868		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321868G>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1616C>G	12.37:g.46321868G>C	ENSP00000358374:p.Thr539Arg					SCAF11_uc001row.3_Missense_Mutation_p.T224R|SCAF11_uc001roy.1_Missense_Mutation_p.T613R	p.T539R	NM_004719	NP_004710	Q99590	SCAFB_HUMAN			10	1903	-			539					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1616C>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	2.684	-0.274789	0.05679	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.47528	1.45;2.18;1.45;2.18;0.84	5.97	1.88	0.25563	.	0.864813	0.10254	N	0.696830	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.22626	-1.0211	10	0.66056	D	0.02	-0.4142	6.2142	0.20646	0.2005:0.2501:0.5494:0.0	.	347;539	F8VXG7;Q99590	.;SCAFB_HUMAN	R	224;539;347;539;479	ENSP00000449812:T224R;ENSP00000358374:T539R;ENSP00000448864:T347R;ENSP00000413036:T539R;ENSP00000446746:T479R	ENSP00000358374:T539R	T	-	2	0	SCAF11	44608135	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	0.156000	0.16382	0.404000	0.25506	0.655000	0.94253	ACA		0.363	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		C	46321868	G	C	46321868	3	2	156	1	0	0	0	0	1	0	0	0	14177	1377	48	5	2795	5	SFRS2IP	12	46321868	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	19693564	46321868	87530027	70	11001											
SPATS2	65244	broad.mit.edu	37	chr12	49919998	49919998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaggggctcccccagcGcaaacccaggacctctcaga	13	3	9	16	1	1	1	1	0	1	1	3	2	2	2	4	3	2	2	4	3	3	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:49919998G>A	ENST00000553127.1	+	15	2111	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	SPATS2_ENST00000321898.6_Missense_Mutation_p.R533H|SPATS2_ENST00000552918.1_Missense_Mutation_p.R533H			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	533						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R533H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCCCCCAGCGCAAACCCAGG	0.522																																						uc001rud.2																			1	Substitution - Missense(1)	p.R533H(2)	breast(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(1597-1599)cGc>cAc		Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.							48	49	49					12																	49919998		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49919998G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1598G>A	12.37:g.49919998G>A	ENSP00000448228:p.Arg533His					SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H	p.R533H	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			13	2587	+			533					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.1598G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749215	0.89753	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.56088	0.791	T	0.61681	-0.7013	9	0.49607	T	0.09	-1.7478	15.5728	0.76354	0.0:0.0:1.0:0.0	.	533	Q86XZ4	SPAS2_HUMAN	H	533	.	ENSP00000326841:R533H	R	+	2	0	SPATS2	48206265	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.785000	0.68998	2.635000	0.89317	0.585000	0.79938	CGC		0.522	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		A	49919998	G	A	49919998	3	1	156	1	0	0	0	0	1	0	0	0	15018	1087	38	1	1644	1	SPATS2	12	49919998	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	3598130	49919998	83931897	71	11002											
MGAT4C	25834	broad.mit.edu	37	chr12	86373320	86373324	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-																															gccgatcttctgttccagtaTttactttaattttttttatt																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:86373320_86373324delTTTAC	ENST00000604798.1	-	8	2384_2388	c.1180_1184delGTAAA	c.(1180-1185)gtaaatfs	p.VN394fs	MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.VN394fs|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.VN394fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.VN394fs|MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.VN423fs|MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.VN394fs			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	394					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTCCAGTATTTACtttaattttt	0.346																																						uc010sum.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1252-1257)gtaaatfs		Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.																																				SO:0001589	frameshift_variant	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373320_86373324delTTTAC		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1180_1184delGTAAA	12.37:g.86373320_86373324delTTTAC	ENSP00000474896:p.Val394fs					MGAT4C_uc001tal.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.V394fs	p.V418fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			5	1411_1415	-			394					B4DRH2|Q4G199|Q9UIU5	Frame_Shift_Del	DEL	ENST00000604798.1	37	c.1252_1256delGTAAA	CCDS9030.1																																																																																				0.346	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		-	86373324	TTTAC	-	86373320	7	5	156	1	0	1	0	1	0	0	0	0	9547	1493	52	0	256	0	MGAT4C	12	86373320	Frame_Shift_Del	DEL	TTTAC	TCGA-19-2623-01A-01D-1495-08	36453322	86373320	47478575	72	11003											
RFX4	5992	broad.mit.edu	37	chr12	107033171	107033172	+	Splice_Site	INS	-	-	T																															ctcctgctactctgcaatggINStaagtttccatttttagcaa																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:107033171_107033172insT	ENST00000392842.1	+	3	605		c.e3+1		RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTCTGCAATGGTAAGTTTCCAT	0.371																																						uc001tlt.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.e3+1		Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.																																				SO:0001630	splice_region_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107033171_107033172insT	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.191+1->T	12.37:g.107033172_107033172dupT						LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.W64_splice|RFX4_uc010swv.2_Splice_Site|RFX4_uc001tls.3_Splice_Site_p.W73_splice	p.W73_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN			3	358	+			64					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Splice_Site	INS	ENST00000392842.1	37	c.218_splice	CCDS9106.1																																																																																				0.371	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	Intron	T	107033172	-	T	107033171	8	5	156	1	0	1	1	0	0	0	1	0	13265	1275	44	0	276	0	RFX4	12	107033171	Splice_Site	INS	-	TCGA-19-2623-01A-01D-1495-08	20659851	107033171	26818724	73	11004											
FLT3	2322	broad.mit.edu	37	chr13	28592630	28592630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgacaacatagttggaatCactcatgatatctcgagcca	13	10	7	11	1	3	2	2	2	1	0	4	4	3	3	2	1	2	1	2	1	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:28592630C>G	ENST00000241453.7	-	20	2596	c.2515G>C	c.(2515-2517)Gat>Cat	p.D839H	FLT3_ENST00000380982.4_Missense_Mutation_p.D839H|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTGGAATCACTCATGATA	0.453			"Mis, O"		"AML, ALL"																																	uc001urw.3				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0		p.D839?(2)|p.D835_S838del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2515-2517)Gat>Cat		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						189	144	159					13																	28592630		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592630C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2515G>C	13.37:g.28592630C>G	ENSP00000241453:p.Asp839His					FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	p.D839H	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	19	2597	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	839			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2515G>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873980	0.91664	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83992	-1.79;-1.79	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.89701	0.6791	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89731	0.3926	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	839	P36888	FLT3_HUMAN	H	839	ENSP00000241453:D839H;ENSP00000370369:D839H	ENSP00000241453:D839H	D	-	1	0	FLT3	27490630	1.000000	0.71417	0.838000	0.33150	0.924000	0.55760	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			G	28592630	C	G	28592630	3	3	156	1	0	0	0	0	1	0	0	0	5942	826	29	5	486	5	FLT3	13	28592630	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		28592630	86577248	74	11005											
RB1	5925	broad.mit.edu	37	chr13	48955560	48955563	+	Frame_Shift_Del	DEL	AATC	AATC	-																															atgtgaacatcgaatcatggAatcccttgcatggctctcag																								rs587778639		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:48955560_48955563delAATC	ENST00000267163.4	+	17	1814_1817	c.1676_1679delAATC	c.(1675-1680)gaatccfs	p.ES559fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	559	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CGAATCATGGAATCCCTTGCATGG	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1675-1680)gaatccfs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955560_48955563delAATC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1676_1679delAATC	13.37:g.48955560_48955563delAATC	ENSP00000267163:p.Glu559fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E559fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	16	1842_1845	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	559			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1676_1679delAATC	CCDS31973.1																																																																																				0.328	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48955563	AATC	-	48955560	7	5	156	1	0	1	0	1	0	0	0	0	13098	246	9	0	1742	0	RB1	13	48955560	Frame_Shift_Del	DEL	AATC	TCGA-19-2623-01A-01D-1495-08	20362930	48955560	66214318	75	11006											
PSMA3	5684	broad.mit.edu	37	chr14	58737688	58737688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaattgttccaaaagataTaagagaagaagcagagaaat	21	8	9	3	0	0	5	0	1	0	4	1	7	1	5	1	0	1	2	1	0	8	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:58737688T>C	ENST00000216455.4	+	10	785	c.695T>C	c.(694-696)aTa>aCa	p.I232T	RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.I157T|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000557660.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000556400.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.I225T	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCAAAAGATATAAGAGAAGAA	0.368																																						uc001xdj.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						c.(694-696)aTa>aCa		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3), transcript variant 1, mRNA.							61	60	61					14																	58737688		2203	4300	6503	SO:0001583	missense	5684				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr14:58737688T>C		CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.695T>C	14.37:g.58737688T>C	ENSP00000216455:p.Ile232Thr					C14orf37_uc010tro.2_Intron|PSMA3_uc001xdk.2_Missense_Mutation_p.I225T|PSMA3_uc021rtt.1_Missense_Mutation_p.I157T|C14orf37_uc001xdl.3_Intron|C14orf37_uc021rtu.1_Intron	p.I232T	NM_002788	NP_002779	P25788	PSA3_HUMAN			9	811	+			232					B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	c.695T>C	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173018	0.57584	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	.	0.324962	0.40554	N	0.001071	T	0.51770	0.1694	M	0.75615	2.305	0.52501	D	0.999958	B;B	0.33477	0.413;0.154	B;B	0.40677	0.337;0.181	T	0.57906	-0.7730	10	0.72032	D	0.01	-5.6807	15.0541	0.71897	0.0:0.0:0.0:1.0	.	225;232	P25788-2;P25788	.;PSA3_HUMAN	T	232;225;157;60	ENSP00000216455:I232T;ENSP00000390491:I225T	ENSP00000216455:I232T	I	+	2	0	PSMA3	57807441	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.520000	0.73773	2.274000	0.75844	0.477000	0.44152	ATA		0.368	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		C	58737688	T	C	58737688	3	2	156	1	0	0	0	0	1	0	0	0	12668	1406	49	4	733	4	PSMA3	14	58737688	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		58737688	48611852	76	11007											
CDCA4	55038	broad.mit.edu	37	chr14	105477700	105477700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtactgtgtccaggtcGtagtaggggctgtccacgtc	6	11	14	10	2	1	0	1	0	0	0	5	0	3	0	2	3	1	4	2	3	3	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:105477700G>A	ENST00000336219.3	-	2	722	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CDCA4_ENST00000392590.3_Silent_p.Y189Y	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	189						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGTCCAGGTCGTAGTAGGGGC	0.587																																						uc021sep.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(565-567)taC>taT		Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.							65	61	62					14																	105477700		2203	4300	6503	SO:0001819	synonymous_variant	55038					nucleus		g.chr14:105477700G>A	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.567C>T	14.37:g.105477700G>A						CDCA4_uc001yqa.2_Silent_p.Y189Y|CDCA4_uc001yqb.2_Silent_p.Y189Y	p.Y189Y	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	0	567	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	189					Q8TB18|Q9NWK7	Silent	SNP	ENST00000336219.3	37	c.567C>T	CCDS9996.1																																																																																				0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		A	105477700	G	A	105477700	2	1	156	1	0	0	0	0	0	0	0	1	3088	1140	40	1		1	CDCA4	14	105477700	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	46740012	105477700	1871840	77	11008											
MKRN3	7681	broad.mit.edu	37	chr15	23812072	23812072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttctgggtggaggaggaGgaagagaagcagaaacttat	14	7	17	3	0	1	2	0	0	1	2	1	8	1	6	0	5	2	2	0	5	4	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:23812072G>A	ENST00000314520.3	+	1	1619	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Silent_p.E141E|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	381					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGAGGAGGAGGAAGAGAAGC	0.507																																						uc001ywh.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1141-1143)gaG>gaA		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							95	95	95					15																	23812072		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812072G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1143G>A	15.37:g.23812072G>A						MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	p.E381E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	1619	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	381						Silent	SNP	ENST00000314520.3	37	c.1143G>A	CCDS10013.1																																																																																				0.507	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23812072	G	A	23812072	2	1	156	1	0	0	0	0	0	0	0	1	9608	991	35	3		3	MKRN3	15	23812072	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08		23812072	78719320	78	11009											
FMN1	342184	broad.mit.edu	37	chr15	33358855	33358855	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccctttctggggggccGgatgaatagggctttaaaag	8	10	15	8	1	1	1	0	1	1	0	2	2	2	2	3	6	0	1	3	6	4	4	rs372474008		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:33358855G>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.R411W|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.R411W			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGGGCCGGATGAATAGG	0.567																																						uc001zhf.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1231-1233)Cgg>Tgg		Homo sapiens formin 1 (FMN1), mRNA.		G	TRP/ARG	0,3916		0,0,1958	52	53	53		1231	6	1	15		53	1,8287		0,1,4143	no	missense	FMN1	NM_001103184.2	101	0,1,6101	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	411/1197	33358855	1,12203	1958	4144	6102	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358855G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1580C>T	15.37:g.33358855G>A						FMN1_uc001zhg.2_Missense_Mutation_p.R411W	p.R411W	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	0	1231	-		all_lung(180;1.14e-07)	172			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	15.70	2.912031	0.52439	0.0	1.21E-4	ENSG00000248905	ENST00000334528	T	0.50548	0.74	5.96	5.96	0.96718	.	0.444338	0.26432	N	0.024415	T	0.62962	0.2471	.	.	.	.	.	.	D;P	0.71674	0.998;0.941	P;B	0.57548	0.823;0.288	T	0.71279	-0.4640	8	0.72032	D	0.01	.	14.3487	0.66685	0.0:0.0:0.7393:0.2607	.	411;411	Q68DA7-3;Q68DA7-5	.;.	W	411	ENSP00000333950:R411W	ENSP00000333950:R411W	R	-	1	2	FMN1	31146147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.783000	0.55409	2.832000	0.97577	0.655000	0.94253	CGG		0.567	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		A	33358855	G	A	33358855	1	1	156	0	1	0	0	0	0	0	0	0	5949	1115	39	2		2	FMN1	15	33358855	Intron	SNP	G	TCGA-19-2623-01A-01D-1495-08	9546783	33358855	69172537	79	11010											
GPR176	11245	broad.mit.edu	37	chr15	40093624	40093624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggtggggcagagggCgcaaactgtggcccctgctc	6	6	17	12	1	1	1	1	0	0	1	2	1	1	1	2	6	2	3	2	6	1	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:40093624C>T	ENST00000561100.1	-	3	2122	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	GPR176_ENST00000543580.1_Silent_p.A374A|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Silent_p.A418A|GPR176_ENST00000560729.1_5'Flank	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGGCAGAGGGCGCAAACTGTG	0.572																																						uc001zkj.1																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1255-1257)gcG>gcA		Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.							139	136	137					15																	40093624		2203	4300	6503	SO:0001819	synonymous_variant	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093624C>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1257G>A	15.37:g.40093624C>T						GPR176_uc010uck.1_Silent_p.A359A	p.A419A	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	2	2123	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	419					Q6NXF6	Silent	SNP	ENST00000561100.1	37	c.1257G>A	CCDS10051.1																																																																																				0.572	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		T	40093624	C	T	40093624	2	4	156	1	0	0	0	0	0	0	0	1	6673	755	27	1		1	GPR176	15	40093624	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	6734769	40093624	62437768	80	11011											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364007	42364007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggctccgggatcctcCtcatcagccgtcccatgaag	6	8	11	16	3	2	1	2	1	0	0	7	2	7	2	6	3	1	1	6	3	1	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:42364007C>A	ENST00000290472.3	-	15	1632	c.1538G>T	c.(1537-1539)aGg>aTg	p.R513M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	513	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGATCCTCCTCATCAGCCG	0.617																																						uc001zox.3																			0		p.R513G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1537-1539)aGg>aTg		Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.							49	54	52					15																	42364007		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364007C>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1538G>T	15.37:g.42364007C>A	ENSP00000290472:p.Arg513Met						p.R513M	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	14	1633	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	513			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1538G>T	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580825	0.46006	.	.	ENSG00000159337	ENST00000290472	T	0.04360	3.64	4.79	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.374808	0.23768	N	0.044741	T	0.07728	0.0194	N	0.22421	0.69	0.32478	N	0.541929	D	0.76494	0.999	P	0.62649	0.905	T	0.06373	-1.0830	10	0.87932	D	0	-7.4413	10.5897	0.45302	0.0:0.1955:0.0:0.8045	.	513	Q86XP0	PA24D_HUMAN	M	513	ENSP00000290472:R513M	ENSP00000290472:R513M	R	-	2	0	PLA2G4D	40151299	0.940000	0.31905	0.610000	0.28997	0.190000	0.23558	-0.149000	0.10204	-0.240000	0.09696	0.561000	0.74099	AGG		0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		A	42364007	C	A	42364007	3	1	156	1	0	0	0	0	1	0	0	0	12004	681	24	5	942	5	PLA2G4D	15	42364007	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2270383	42364007	60167385	81	11012											
C15orf48	84419	broad.mit.edu	37	chr15	45724277	45724277	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttaattttagccttgatCgaaaaaaaaatccagaacct	16	13	4	8	1	1	2	0	1	1	1	3	3	2	2	3	0	2	0	3	0	7	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:45724277C>T	ENST00000344300.3	+	3	320	c.130C>T	c.(130-132)Cga>Tga	p.R44*	MIR147B_ENST00000390185.1_RNA|C15orf48_ENST00000396650.2_Nonsense_Mutation_p.R44*|RP11-519G16.5_ENST00000559553.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	44						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TAGCCTTGATCGAAAAAAAAA	0.313																																						uc001zvg.3																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(130-132)Cga>Tga		Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.							120	116	117					15																	45724277		2198	4298	6496	SO:0001587	stop_gained	84419					nucleus		g.chr15:45724277C>T		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.130C>T	15.37:g.45724277C>T	ENSP00000341610:p.Arg44*					C15orf48_uc001zvh.3_Nonsense_Mutation_p.R44*|C15orf48_uc021skp.1_5'Flank	p.R44*	NM_197955	NP_922946	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	3	248	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	44						Nonsense_Mutation	SNP	ENST00000344300.3	37	c.130C>T	CCDS10124.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808871	0.90707	.	.	ENSG00000166920	ENST00000396650;ENST00000344300	.	.	.	5.44	3.41	0.39046	.	0.138932	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.2248	5.6834	0.17788	0.2763:0.6227:0.0:0.101	.	.	.	.	X	44	.	ENSP00000341610:R44X	R	+	1	2	C15orf48	43511569	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.022000	0.57203	1.318000	0.45170	0.563000	0.77884	CGA		0.313	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		T	45724277	C	T	45724277	4	4	156	1	0	0	0	0	0	1	0	0	1799	876	31	2	140	2	C15orf48	15	45724277	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	3360270	45724277	56807115	82	11013											
UACA	55075	broad.mit.edu	37	chr15	70970467	70970467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaactgtaaaccattgaCtttatccaaaagtattcttt	13	16	4	8	0	1	1	0	1	1	0	2	1	2	1	2	0	2	3	2	0	7	8	rs145715387	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:70970467C>T	ENST00000322954.6	-	11	1155	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	UACA_ENST00000379983.2_Missense_Mutation_p.V311I|UACA_ENST00000560441.1_Missense_Mutation_p.V311I|UACA_ENST00000539319.1_Missense_Mutation_p.V215I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	324					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AAACCATTGACTTTATCCAAA	0.284																																						uc002asr.3																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(970-972)Gtc>Atc		Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.							126	122	123					15																	70970467		2198	4295	6493	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70970467C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.970G>A	15.37:g.70970467C>T	ENSP00000314556:p.Val324Ile					UACA_uc010uke.2_Missense_Mutation_p.V215I|UACA_uc002asq.3_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	p.V324I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			10	1074	-			324					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.970G>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352304	0.61293	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.33654	1.4;1.42;1.78	5.32	5.32	0.75619	.	0.104021	0.42420	D	0.000707	T	0.26268	0.0641	L	0.43152	1.355	0.52099	D	0.99994	B;B;B;B	0.33748	0.423;0.298;0.298;0.354	B;B;B;B	0.31946	0.138;0.065;0.065;0.138	T	0.04255	-1.0965	10	0.15499	T	0.54	-17.4934	8.5359	0.33362	0.0:0.8682:0.0:0.1318	.	215;324;324;311	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	I	324;311;311;215	ENSP00000314556:V324I;ENSP00000369319:V311I;ENSP00000438667:V215I	ENSP00000314556:V324I	V	-	1	0	UACA	68757521	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.182000	0.42556	2.662000	0.90505	0.591000	0.81541	GTC		0.284	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	70970467	C	T	70970467	3	4	156	1	0	0	0	0	1	0	0	0	16821	565	20	3	3316	3	UACA	15	70970467	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	25246190	70970467	31560925	83	11014											
MYH11	4629	broad.mit.edu	37	chr16	15857677	15857677	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatctggcatggacgcctGgtctgtgtttctttccttct	3	18	10	10	1	4	0	0	0	4	0	5	1	5	1	2	3	0	3	2	3	1	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:15857677G>A	ENST00000300036.5	-	10	1214	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	MYH11_ENST00000576790.2_Nonsense_Mutation_p.Q369*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q376*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q376*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	369	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATGGACGCCTGGTCTGTGTTT	0.507			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1126-1128)Cag>Tag		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							209	182	191					16																	15857677		2197	4300	6497	SO:0001587	stop_gained	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15857677G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1105C>T	16.37:g.15857677G>A	ENSP00000300036:p.Gln369*					MYH11_uc002ddv.3_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.3_Nonsense_Mutation_p.Q369*|MYH11_uc002ddy.3_Nonsense_Mutation_p.Q369*|MYH11_uc010bvg.3_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	p.Q376*	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			10	1233	-			369			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.1126C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	g	38	6.977385	0.97975	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9753	0.89126	0.0:0.0:1.0:0.0	.	.	.	.	X	369;369;376;376;376	.	ENSP00000300036:Q369X	Q	-	1	0	MYH11	15765178	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.810000	0.99221	2.482000	0.83794	0.556000	0.70494	CAG		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15857677	G	A	15857677	4	1	156	1	0	0	0	0	0	1	0	0	10031	1357	47	3	4976	3	MYH11	16	15857677	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		15857677	74497076	84	11015											
DNAH3	55567	broad.mit.edu	37	chr16	21145656	21145656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgttccacttcttggCgctcctgtagacactgtgcc	4	13	8	16	2	1	1	0	0	1	1	5	1	4	1	4	1	1	3	4	1	1	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:21145656C>T	ENST00000261383.3	-	7	1005	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A336T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	336	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTCTTGGCGCTCCTGTAG	0.527																																						uc010vbe.2																			0		p.S335S(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1006-1008)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							108	104	105					16																	21145656		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145656C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1006G>A	16.37:g.21145656C>T	ENSP00000261383:p.Ala336Thr					DNAH3_uc002die.2_Missense_Mutation_p.A307T	p.A336T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	6	1006	-			336			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1006G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048428	0.55110	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.27557	1.66;1.8	5.85	2.8	0.32819	.	0.723385	0.13471	N	0.385405	T	0.22551	0.0544	L	0.44542	1.39	0.20196	N	0.999925	B;B	0.34313	0.026;0.448	B;B	0.25506	0.006;0.061	T	0.07046	-1.0793	10	0.27785	T	0.31	.	10.7972	0.46468	0.0:0.7925:0.0:0.2075	.	336;307	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	336;336;307	ENSP00000261383:A336T;ENSP00000394245:A336T	ENSP00000261383:A336T	A	-	1	0	DNAH3	21053157	0.010000	0.17322	0.177000	0.23020	0.988000	0.76386	0.347000	0.20014	0.371000	0.24564	0.655000	0.94253	GCC		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21145656	C	T	21145656	3	4	156	1	0	0	0	0	1	0	0	0	4603	768	27	1	11567	1	DNAH3	16	21145656	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	5287979	21145656	69209097	85	11016											
ITGAD	3681	broad.mit.edu	37	chr16	31426282	31426282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcgtcctgtgctggcCgtgggctcacaagacctctt	6	10	11	14	2	2	1	1	0	1	1	3	1	3	1	4	2	3	2	4	2	2	1	rs144306080		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:31426282C>T	ENST00000389202.2	+	18	2302	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	751					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGCTGGCCGTGGGCTCAC	0.537													c|||	1	0.000199681	8e-04	0	5008	,	,		19491	0		0	False		,,,				2504	0					uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2254-2256)gcC>gcT		Homo sapiens integrin, alpha D (ITGAD), mRNA.		C		7,4387	11.4+/-27.6	0,7,2190	113	102	105		2253	-9.1	0	16	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	ITGAD	NM_005353.2		0,7,6490	TT,TC,CC		0.0,0.1593,0.0539		751/1162	31426282	7,12987	2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31426282C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2253C>T	16.37:g.31426282C>T						ITGAD_uc002ebv.1_Silent_p.A751A	p.A752A	NM_005353	NP_005344	Q13349	ITAD_HUMAN			17	2305	+			751					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2256C>T	CCDS32438.1																																																																																				0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		T	31426282	C	T	31426282	2	4	156	1	0	0	0	0	0	0	0	1	7884	639	23	2		2	ITGAD	16	31426282	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	10280626	31426282	58928471	86	11017											
CYLD	1540	broad.mit.edu	37	chr16	50815179	50815179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgagtgtgcaggctgtaCggatggaaccttcagaggca	11	8	15	7	1	1	3	1	1	0	2	1	5	1	5	1	4	3	4	1	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:50815179C>T	ENST00000427738.3	+	9	1746	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	CYLD_ENST00000564326.1_Missense_Mutation_p.T511M|CYLD_ENST00000398568.2_Missense_Mutation_p.T511M|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.T514M|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.T511M|CYLD_ENST00000569418.1_Missense_Mutation_p.T511M|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000540145.1_Missense_Mutation_p.T514M			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	514	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T514fs*29(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GCAGGCTGTACGGATGGAACC	0.453			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc021tib.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Insertion - Frameshift(1)	p.T514fs*29(2)|p.T514T(1)	skin(1)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1540-1542)aCg>aTg		Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.							107	104	105					16																	50815179		1946	4157	6103	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50815179C>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1541C>T	16.37:g.50815179C>T	ENSP00000392025:p.Thr514Met					CYLD_uc002ego.3_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egp.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	p.T514M	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			7	1664	+		all_cancers(37;0.0156)	514			CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1541C>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914515	0.72983	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.75367	-0.93;-0.93;-0.93	6.17	6.17	0.99709	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.85919	0.1445	10	0.87932	D	0	-19.502	20.8794	0.99867	0.0:1.0:0.0:0.0	.	511;514;511;514	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	M	514;514;511;511	ENSP00000445447:T514M;ENSP00000308928:T514M;ENSP00000381574:T511M	ENSP00000308928:T514M	T	+	2	0	CYLD	49372680	1.000000	0.71417	0.865000	0.33974	0.241000	0.25554	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	ACG		0.453	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			T	50815179	C	T	50815179	3	4	156	1	0	0	0	0	1	0	0	0	4143	536	19	1	1571	1	CYLD	16	50815179	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	19388897	50815179	39539574	87	11018											
LRRC50	123872	broad.mit.edu	37	chr16	84203580	84203580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctatttgttaaggaaagCtttgaggccaaggacgagct	12	10	13	6	1	0	1	0	1	0	0	0	5	0	3	1	3	3	4	1	3	4	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:84203580C>A	ENST00000378553.5	+	8	1270	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.S382R	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	382					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTAAGGAAAGCTTTGAGGCCA	0.577																																						uc002fhl.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1144-1146)agC>agA		Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.							78	82	80					16																	84203580		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203580C>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1146C>A	16.37:g.84203580C>A	ENSP00000367815:p.Ser382Arg					DNAAF1_uc010vnw.2_Missense_Mutation_p.S146R	p.S382R	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			7	1327	+			382					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1146C>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235285	0.58886	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37058	1.22;1.74	5.18	2.0	0.26442	.	0.578384	0.16419	N	0.215222	T	0.45836	0.1362	M	0.70595	2.14	0.31867	N	0.620214	D;D	0.63880	0.993;0.988	P;P	0.58210	0.835;0.804	T	0.50448	-0.8827	10	0.23891	T	0.37	-19.1111	6.0347	0.19699	0.0:0.6787:0.0:0.3213	.	146;382	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	R	382	ENSP00000334593:S382R;ENSP00000367815:S382R	ENSP00000334593:S382R	S	+	3	2	DNAAF1	82761081	1.000000	0.71417	0.986000	0.45419	0.689000	0.40095	1.050000	0.30404	0.764000	0.33197	0.643000	0.83706	AGC		0.577	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		A	84203580	C	A	84203580	3	1	156	1	0	0	0	0	1	0	0	0	9009	796	28	5	1176	5	LRRC50	16	84203580	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	33388401	84203580	6151173	88	11019											
NLRP1	22861	broad.mit.edu	37	chr17	5463322	5463322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccaccgctgcccatggggGcctgcctttctctgatttct	4	13	9	15	1	2	1	0	1	2	0	3	1	2	1	5	2	3	1	5	2	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:5463322G>A	ENST00000572272.1	-	4	693	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	NLRP1_ENST00000345221.3_Missense_Mutation_p.P232S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P232S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P232S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.P232S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P232S			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	232					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCCATGGGGGCCTGCCTTTC	0.507																																						uc002gci.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(694-696)Ccc>Tcc		Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.							30	35	33					17																	5463322		2197	4295	6492	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463322G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.694C>T	17.37:g.5463322G>A	ENSP00000460475:p.Pro232Ser					NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gch.4_Missense_Mutation_p.P232S|NLRP1_uc002gck.3_Missense_Mutation_p.P232S|NLRP1_uc002gcj.3_Missense_Mutation_p.P232S|NLRP1_uc002gcl.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.3_Missense_Mutation_p.P232S	p.P232S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			3	1249	-		Colorectal(1115;3.48e-05)	232					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.694C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	1.663	-0.510917	0.04231	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.72051	-0.62;-0.62;-0.58;-0.57;-0.58	1.5	-3.0	0.05480	.	.	.	.	.	T	0.40645	0.1125	N	0.19112	0.55	0.09310	N	1	B;P;B;B;B	0.38110	0.072;0.618;0.02;0.034;0.006	B;B;B;B;B	0.25884	0.008;0.064;0.006;0.013;0.004	T	0.27191	-1.0081	9	0.22109	T	0.4	.	2.9829	0.05958	0.191:0.0:0.3096:0.4994	.	232;232;232;232;232	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	S	232	ENSP00000442029:P232S;ENSP00000262467:P232S;ENSP00000269280:P232S;ENSP00000346390:P232S;ENSP00000324366:P232S	ENSP00000262467:P232S	P	-	1	0	NLRP1	5404046	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.373000	0.07494	-1.106000	0.03008	0.196000	0.17591	CCC		0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5463322	G	A	5463322	3	1	156	1	0	0	0	0	1	0	0	0	10471	1203	42	3	3858	3	NLRP1	17	5463322	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		5463322	75731888	89	11020											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G245S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577548	C	T	7577548	3	4	156	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2114226	7577548	73617662	90	11021											
MYH8	4626	broad.mit.edu	37	chr17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtggaggagctggacaCgctcactggcatccaggagc	8	6	17	10	1	1	0	1	0	0	0	2	4	2	4	1	6	2	3	1	6	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:10297588C>T	ENST00000403437.2	-	35	5238	c.5144G>A	c.(5143-5145)cGt>cAt	p.R1715H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1715					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5143-5145)cGt>cAt		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							117	103	108					17																	10297588		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297588C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5144G>A	17.37:g.10297588C>T	ENSP00000384330:p.Arg1715His					AK097500_uc002gml.1_Intron	p.R1715H	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	5239	-			1715					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5144G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091071	0.94149	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80824	-1.42	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.38217	U	0.001776	D	0.91958	0.7453	M	0.90870	3.155	0.54753	D	0.999983	D	0.89917	1.0	D	0.77557	0.99	D	0.93515	0.6856	10	0.87932	D	0	.	18.6157	0.91302	0.0:1.0:0.0:0.0	.	1715	P13535	MYH8_HUMAN	H	1715	ENSP00000384330:R1715H	ENSP00000252173:R1715H	R	-	2	0	MYH8	10238313	0.996000	0.38824	0.995000	0.50966	0.837000	0.47467	7.609000	0.82925	2.632000	0.89209	0.650000	0.86243	CGT		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10297588	C	T	10297588	3	4	156	1	0	0	0	0	1	0	0	0	10041	536	19	1	693	1	MYH8	17	10297588	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2720040	10297588	70897622	91	11022											
CCL13	6357	broad.mit.edu	37	chr17	32685057	32685057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccacagcttcagaaccaaActgggcaaggagatctgtgc	12	7	10	12	0	2	2	1	0	1	2	3	3	3	2	2	2	4	2	2	2	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:32685057A>C	ENST00000225844.2	+	3	279	c.204A>C	c.(202-204)aaA>aaC	p.K68N		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	68					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TCAGAACCAAACTGGGCAAGG	0.512																																						uc002hic.3																			0				large_intestine(1)|prostate(1)	2						c.(202-204)aaA>aaC		Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.							63	62	62					17																	32685057		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685057A>C	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"Chemokine ligands", "Endogenous ligands"	10611	protein-coding gene	gene with protein product		601391	"small inducible cytokine subfamily A (Cys-Cys), member 13"	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.204A>C	17.37:g.32685057A>C	ENSP00000225844:p.Lys68Asn						p.K68N	NM_005408	NP_005399	Q99616	CCL13_HUMAN			2	279	+		Ovarian(249;0.0443)|Breast(31;0.151)	68					O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.204A>C	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925950	0.34002	.	.	ENSG00000181374	ENST00000225844	T	0.09723	2.95	4.53	-0.439	0.12264	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.23532	0.0569	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.74674	0.984	T	0.09773	-1.0659	8	0.72032	D	0.01	.	4.1254	0.10125	0.3933:0.3916:0.215:0.0	.	68	Q99616	CCL13_HUMAN	N	68	ENSP00000225844:K68N	ENSP00000225844:K68N	K	+	3	2	CCL13	29709170	0.000000	0.05858	0.001000	0.08648	0.770000	0.43624	0.003000	0.13083	-0.144000	0.11314	0.459000	0.35465	AAA		0.512	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		C	32685057	A	C	32685057	3	2	156	1	0	0	0	0	1	0	0	0	2884	40	2	5	214	5	CCL13	17	32685057	Missense_Mutation	SNP	A	TCGA-19-2623-01A-01D-1495-08	22387469	32685057	48510153	92	11023											
KRT25	147183	broad.mit.edu	37	chr17	38911514	38911514	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggatgcactggaaagtcGaagagacatggtatcagggc	12	7	14	8	1	1	1	1	0	0	1	2	5	1	3	1	4	1	2	1	4	3	1	rs528755553		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:38911514G>A	ENST00000312150.4	-	1	70	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGAAAGTCGAAGAGACATG	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		21986	0		0	False		,,,				2504	0					uc002hve.3																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(10-12)Cga>Tga		Homo sapiens keratin 25 (KRT25), mRNA.							34	34	34					17																	38911514		2201	4292	6493	SO:0001587	stop_gained	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911514G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.10C>T	17.37:g.38911514G>A	ENSP00000310573:p.Arg4*						p.R4*	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			0	71	-		Breast(137;0.00526)	4			Head.			Nonsense_Mutation	SNP	ENST00000312150.4	37	c.10C>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226555	0.79576	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	.	.	.	5.76	4.6	0.57074	.	0.117651	0.39083	N	0.001478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.537	0.27717	0.0941:0.0:0.7372:0.1687	.	.	.	.	X	4	.	ENSP00000310573:R4X	R	-	1	2	KRT25	36165040	0.719000	0.27986	0.948000	0.38648	0.567000	0.35839	1.651000	0.37302	2.727000	0.93392	0.655000	0.94253	CGA		0.488	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		A	38911514	G	A	38911514	4	1	156	1	0	0	0	0	0	1	0	0	8462	1066	37	2	1374	2	KRT25	17	38911514	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6226457	38911514	42283696	93	11024											
DHX8	1659	broad.mit.edu	37	chr17	41601142	41601142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagaagaagcaacagcGtcttgaacccttgtacaacc	16	6	7	12	1	1	3	0	1	1	2	1	3	1	3	2	0	7	2	2	0	7	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:41601142G>A	ENST00000262415.3	+	23	3662	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1197					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGCAACAGCGTCTTGAACCC	0.517																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3589-3591)cGt>cAt		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.							136	118	124					17																	41601142		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601142G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3590G>A	17.37:g.41601142G>A	ENSP00000262415:p.Arg1197His					DHX8_uc010wig.2_Intron	p.R1197H	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	22	3662	+		Breast(137;0.00908)	1197						Missense_Mutation	SNP	ENST00000262415.3	37	c.3590G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361357	0.95877	.	.	ENSG00000067596	ENST00000262415	T	0.03607	3.87	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.81802	2.56	0.58432	D	0.999999	D	0.71674	0.998	P	0.61275	0.886	T	0.00005	-1.2544	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1197	Q14562	DHX8_HUMAN	H	1197	ENSP00000262415:R1197H	ENSP00000262415:R1197H	R	+	2	0	DHX8	38956668	1.000000	0.71417	0.972000	0.41901	0.895000	0.52256	7.895000	0.87343	2.941000	0.99782	0.655000	0.94253	CGT		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			A	41601142	G	A	41601142	3	1	156	1	0	0	0	0	1	0	0	0	4515	1145	40	1	3680	1	DHX8	17	41601142	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	2689628	41601142	39594068	94	11025											
TBX21	30009	broad.mit.edu	37	chr17	45822386	45822386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaccatgtcctactaccGaggccaggaggtcctggcac	8	6	11	16	1	0	0	0	0	0	0	2	2	2	1	6	4	2	1	6	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:45822386G>A	ENST00000177694.1	+	6	1473	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	421					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTACTACCGAGGCCAGGAG	0.662																																						uc002ilv.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1261-1263)cGa>cAa		Homo sapiens T-box 21 (TBX21), mRNA.							34	34	34					17																	45822386		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822386G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1262G>A	17.37:g.45822386G>A	ENSP00000177694:p.Arg421Gln						p.R421Q	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			5	1473	+			421						Missense_Mutation	SNP	ENST00000177694.1	37	c.1262G>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242061	0.39598	.	.	ENSG00000073861	ENST00000177694	D	0.84730	-1.89	5.2	3.09	0.35607	.	0.532161	0.17331	N	0.178139	T	0.71937	0.3399	L	0.36672	1.1	0.29172	N	0.877062	B	0.23058	0.079	B	0.08055	0.003	T	0.56426	-0.7981	10	0.11182	T	0.66	.	5.8821	0.18862	0.1059:0.2132:0.6809:0.0	.	421	Q9UL17	TBX21_HUMAN	Q	421	ENSP00000177694:R421Q	ENSP00000177694:R421Q	R	+	2	0	TBX21	43177385	0.235000	0.23794	0.990000	0.47175	0.997000	0.91878	0.759000	0.26461	2.404000	0.81709	0.655000	0.94253	CGA		0.662	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		A	45822386	G	A	45822386	3	1	156	1	0	0	0	0	1	0	0	0	15654	1058	37	2	1284	2	TBX21	17	45822386	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	4221244	45822386	35372824	95	11026											
MC2R	4158	broad.mit.edu	37	chr18	13885081	13885081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaagcaccaccacagtgCggcgcatggtcacgatgctg	9	6	12	14	4	1	0	1	0	0	0	1	1	1	0	3	2	3	4	3	2	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:13885081C>T	ENST00000327606.3	-	2	617	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	146			R -> H (in GCCD1).		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R146H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			1	Substitution - Missense(1)	p.R146H(2)	stomach(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30	GRCh37	CM950793	MC2R	M		c.(436-438)cGc>cAc		Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	Corticotropin(DB01285)|Cosyntropin(DB01284)						118	96	104					18																	13885081		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885081C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.437G>A	18.37:g.13885081C>T	ENSP00000333821:p.Arg146His					MC2R_uc021uhs.1_Missense_Mutation_p.R146H	p.R146H	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			1	614	-			146		R -> H (in GCCD1).			A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.437G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656917	0.88154	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.39592	1.07	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.91196	3.185	0.58432	D	0.999996	D	0.89917	1.0	D	0.72075	0.976	T	0.80049	-0.1545	10	0.87932	D	0	.	18.919	0.92518	0.0:1.0:0.0:0.0	.	146	Q01718	ACTHR_HUMAN	H	146	ENSP00000333821:R146H	ENSP00000333821:R146H	R	-	2	0	MC2R	13875081	1.000000	0.71417	0.943000	0.38184	0.582000	0.36321	5.487000	0.66863	2.469000	0.83416	0.655000	0.94253	CGC		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			T	13885081	C	T	13885081	3	4	156	1	0	0	0	0	1	0	0	0	9364	768	27	1	460	1	MC2R	18	13885081	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		13885081	64192167	96	11027											
ATP5A1	498	broad.mit.edu	37	chr18	43668121	43668121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcaacagtggatctcttTtgaccaatagcaacataaat	14	11	8	8	0	1	1	0	1	1	0	2	2	1	2	1	2	3	2	1	2	6	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:43668121T>C	ENST00000398752.6	-	6	874	c.753A>G	c.(751-753)caA>caG	p.Q251Q	ATP5A1_ENST00000282050.2_Silent_p.Q251Q|ATP5A1_ENST00000590665.1_Silent_p.Q229Q|ATP5A1_ENST00000593152.2_Silent_p.Q201Q	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	251					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TGGATCTCTTTTGACCAATAG	0.368																																						uc002lbr.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(751-753)caA>caG		Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							121	115	117					18																	43668121		2203	4299	6502	SO:0001819	synonymous_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43668121T>C	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.753A>G	18.37:g.43668121T>C						ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	p.Q251Q	NM_004046	NP_004037	P25705	ATPA_HUMAN			5	843	-			251					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	c.753A>G	CCDS11927.1																																																																																				0.368	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		C	43668121	T	C	43668121	2	2	156	1	0	0	0	0	0	0	0	1	1147	1838	64	4		4	ATP5A1	18	43668121	Silent	SNP	T	TCGA-19-2623-01A-01D-1495-08	29783040	43668121	34409127	97	11028											
INSR	3643	broad.mit.edu	37	chr19	7117197	7117197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccatcccggccccccGcctcctccctctgacagtgc	4	7	6	24	2	1	1	0	1	1	0	5	1	5	1	9	1	1	0	9	1	0	0	rs200400127		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:7117197G>A	ENST00000302850.5	-	22	4161	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	INSR_ENST00000341500.5_Missense_Mutation_p.A1328V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1340					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.A1340V(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCGGCCCCCCGCCTCCTCCCT	0.592																																						uc002mgd.1																			3	Substitution - Missense(3)	p.A1340V(5)|p.A1340A(1)	endometrium(2)|prostate(1)	breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(4018-4020)gCg>gTg		Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	75	68	70		4019,3983	0.2	0.7	19		70	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	INSR	NM_000208.2,NM_001079817.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1340/1383,1328/1371	7117197	1,13005	2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117197G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4019C>T	19.37:g.7117197G>A	ENSP00000303830:p.Ala1340Val					INSR_uc002mge.1_Missense_Mutation_p.A1328V	p.A1340V	NM_000208	NP_000199	P06213	INSR_HUMAN			21	4128	-			1340					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.4019C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517349	0.44763	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.75260	-0.92;-0.92	4.97	0.174	0.15040	.	0.164767	0.27951	U	0.017195	T	0.53302	0.1788	N	0.25647	0.755	0.24389	N	0.99475	B;B	0.17268	0.017;0.021	B;B	0.12156	0.007;0.003	T	0.38887	-0.9640	10	0.46703	T	0.11	.	2.9878	0.05973	0.3183:0.0:0.4648:0.2168	.	1328;1340	P06213-2;P06213	.;INSR_HUMAN	V	1340;1328	ENSP00000303830:A1340V;ENSP00000342838:A1328V	ENSP00000303830:A1340V	A	-	2	0	INSR	7068197	0.252000	0.23972	0.676000	0.29932	0.985000	0.73830	0.464000	0.21988	0.246000	0.21394	0.551000	0.68910	GCG		0.592	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7117197	G	A	7117197	3	1	156	1	0	0	0	0	1	0	0	0	7773	1087	38	1	133	1	INSR	19	7117197	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		7117197	52011786	98	11029											
FBN3	84467	broad.mit.edu	37	chr19	8160957	8160957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgccggtcacactcGtcaatgtctgcagaagcaaa	12	7	10	12	2	3	1	2	0	1	1	4	1	3	1	1	2	3	3	1	2	4	0	rs201513367	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:8160957G>A	ENST00000600128.1	-	45	5961	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D	FBN3_ENST00000601739.1_Silent_p.D1849D|FBN3_ENST00000270509.2_Silent_p.D1849D			Q75N90	FBN3_HUMAN	fibrillin 3	1849	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACACTCGTCAATGTCTG	0.582													G|||	2	0.000399361	0	0	5008	,	,		18954	0		0.001	False		,,,				2504	0.001					uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5545-5547)gaC>gaT		Homo sapiens fibrillin 3 (FBN3), mRNA.							107	85	93					19																	8160957		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8160957G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5547C>T	19.37:g.8160957G>A							p.D1849D	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			43	5564	-			1849			EGF-like 29; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5547C>T	CCDS12196.1																																																																																				0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8160957	G	A	8160957	2	1	156	1	0	0	0	0	0	0	0	1	5704	1136	40	1		1	FBN3	19	8160957	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	1043760	8160957	50968026	99	11030											
OR7C1	26664	broad.mit.edu	37	chr19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-																															caggacttcaagtagatcacAaaaaaagtgtggaatttcca																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:14910414delA	ENST00000248073.2	-	1	609	c.535delT	c.(535-537)tgtfs	p.C179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478																																						uc010xnz.2																			1	Deletion - Frameshift(1)	p.C179fs*7(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(535-537)tgtfs		Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.							107	108	108					19																	14910414		2203	4300	6503	SO:0001589	frameshift_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910414delA	X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.535delT	19.37:g.14910414delA	ENSP00000248073:p.Cys179fs						p.C179fs	NM_198944	NP_945182	O76099	OR7C1_HUMAN			0	535	-			179					Q15621|Q6IFP2|Q96R94	Frame_Shift_Del	DEL	ENST00000248073.2	37	c.535delT	CCDS12317.1																																																																																				0.478	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			-	14910414	A	-	14910414	7	5	156	1	0	1	0	1	0	0	0	0	11217	130	5	0	429	0	OR7C1	19	14910414	Frame_Shift_Del	DEL	A	TCGA-19-2623-01A-01D-1495-08	6749457	14910414	44218569	100	11031											
UPF1	5976	broad.mit.edu	37	chr19	18976409	18976409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactggtcgtgggggacGccagaagaaccgctttgggc	9	6	16	10	3	0	3	0	0	0	3	1	4	0	4	2	4	1	1	2	4	3	1	rs139317612		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:18976409G>A	ENST00000599848.1	+	22	3301	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	UPF1_ENST00000262803.5_Missense_Mutation_p.R1020H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1031					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGTGGGGGACGCCAGAAGAAC	0.642																																						uc002nkg.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3091-3093)cGc>cAc		Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.							72	78	76					19																	18976409		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976409G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3092G>A	19.37:g.18976409G>A	ENSP00000470142:p.Arg1031His					UPF1_uc002nkf.3_Missense_Mutation_p.R1020H|UPF1_uc002nkh.3_Missense_Mutation_p.R275H	p.R1031H	NM_002911	NP_002902	Q92900	RENT1_HUMAN			21	3367	+			1031					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3092G>A		.	.	.	.	.	.	.	.	.	.	g	17.65	3.441681	0.63067	.	.	ENSG00000005007	ENST00000262803	D	0.89552	-2.53	4.78	3.67	0.42095	.	0.241301	0.42821	D	0.000657	T	0.81814	0.4902	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.77536	-0.2551	10	0.33141	T	0.24	-35.1927	13.1469	0.59467	0.0:0.1619:0.8381:0.0	.	1031;1020	Q92900;Q92900-2	RENT1_HUMAN;.	H	1020	ENSP00000262803:R1020H	ENSP00000262803:R1020H	R	+	2	0	UPF1	18837409	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.492000	0.81482	2.213000	0.71641	0.479000	0.44913	CGC		0.642	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		A	18976409	G	A	18976409	3	1	156	1	0	0	0	0	1	0	0	0	17000	1087	38	1	3145	1	UPF1	19	18976409	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	4065995	18976409	40152574	101	11032											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908257	39908257	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgagatggtggaggaagcTattgtgtccatgacagcggt	9	9	16	7	3	0	2	0	1	0	1	1	5	1	4	1	4	2	1	1	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:39908257T>C	ENST00000409794.3	+	8	1657	c.807T>C	c.(805-807)gcT>gcC	p.A269A	PLEKHG2_ENST00000409797.2_Silent_p.A269A|PLEKHG2_ENST00000458508.2_Silent_p.A210A|PLEKHG2_ENST00000425673.1_Silent_p.A269A|PLEKHG2_ENST00000378550.1_Silent_p.A269A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	269	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGAAGCTATTGTGTCCA	0.647																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(805-807)gcT>gcC		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							70	61	64					19																	39908257		2203	4300	6503	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908257T>C	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.807T>C	19.37:g.39908257T>C						PLEKHG2_uc010xuy.2_Silent_p.A210A|PLEKHG2_uc002olj.3_Silent_p.A269A|PLEKHG2_uc010xva.2_Silent_p.A76A	p.A269A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	1132	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		269			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.807T>C	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893296	0.33442	.	.	ENSG00000090924	ENST00000205135	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	.	3.7012	0.08383	0.0819:0.5486:0.2455:0.1241	.	.	.	.	P	166	.	.	L	+	2	0	PLEKHG2	44600097	0.072000	0.21174	0.372000	0.25991	0.991000	0.79684	-0.665000	0.05286	-2.485000	0.00520	0.459000	0.35465	CTA		0.647	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		C	39908257	T	C	39908257	2	2	156	1	0	0	0	0	0	0	0	1	12069	1509	53	4		4	PLEKHG2	19	39908257	Silent	SNP	T	TCGA-19-2623-01A-01D-1495-08	20931848	39908257	19220726	102	11033											
XRCC1	7515	broad.mit.edu	37	chr19	44057610	44057610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcctcagagagttggCgctctcatcctcctccttca	5	10	8	18	2	3	1	3	0	1	1	7	2	6	1	6	2	0	2	6	2	0	2	rs190563109		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:44057610C>T	ENST00000262887.5	-	6	1091	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.A151T			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	182					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGAGAGTTGGCGCTCTCATCC	0.577								Other BER factors					C|||	1	0.000199681	0	0	5008	,	,		18427	0.001		0	False		,,,				2504	0					uc002owt.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(544-546)Gcc>Acc	Other BER factors	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.							89	83	85					19																	44057610		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057610C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.544G>A	19.37:g.44057610C>T	ENSP00000262887:p.Ala182Thr					XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	p.A182T	NM_006297	NP_006288	P18887	XRCC1_HUMAN			5	664	-		Prostate(69;0.0153)	182					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.544G>A	CCDS12624.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.669	0.307982	0.10733	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.02552	4.25;4.25	4.73	0.0736	0.14391	.	0.399851	0.26297	N	0.025185	T	0.02047	0.0064	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.08055	0.003;0.001	T	0.43766	-0.9371	10	0.32370	T	0.25	-3.5733	1.6883	0.02846	0.1437:0.4675:0.1399:0.2489	.	151;182	F5H8D7;P18887	.;XRCC1_HUMAN	T	196;182;151;182	ENSP00000262887:A182T;ENSP00000443671:A151T	ENSP00000262887:A182T	A	-	1	0	XRCC1	48749450	0.001000	0.12720	0.006000	0.13384	0.016000	0.09150	-0.255000	0.08769	0.037000	0.15575	-0.734000	0.03567	GCC		0.577	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		T	44057610	C	T	44057610	3	4	156	1	0	0	0	0	1	0	0	0	17449	768	27	1	1405	1	XRCC1	19	44057610	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	4149353	44057610	15071373	103	11034											
NLRP2	55655	broad.mit.edu	37	chr19	55501996	55501996	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacaggggtgaagtttctGtgtgagggcttgaggtaccc	9	11	15	6	0	1	3	0	3	1	0	1	3	1	3	1	4	2	3	1	4	4	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:55501996G>C	ENST00000543010.1	+	10	2807	c.2664G>C	c.(2662-2664)ctG>ctC	p.L888L	NLRP2_ENST00000391721.4_Silent_p.L864L|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000537859.1_Silent_p.L866L|NLRP2_ENST00000339757.7_Silent_p.L866L|NLRP2_ENST00000263437.6_Silent_p.L885L|NLRP2_ENST00000448584.2_Silent_p.L888L|NLRP2_ENST00000538819.1_Silent_p.L864L|NLRP2_ENST00000427260.2_Silent_p.L865L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	888					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGAAGTTTCTGTGTGAGGGCT	0.567																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2662-2664)ctG>ctC		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.							136	136	136					19																	55501996		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501996G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2664G>C	19.37:g.55501996G>C						NLRP2_uc010yfp.2_Silent_p.L865L|NLRP2_uc002qij.3_Silent_p.L888L|NLRP2_uc010esp.3_Silent_p.L866L|NLRP2_uc010esn.3_Silent_p.L864L|NLRP2_uc010eso.3_Silent_p.L885L	p.L888L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2775	+			888					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2664G>C	CCDS12913.1																																																																																				0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		C	55501996	G	C	55501996	2	2	156	1	0	0	0	0	0	0	0	1	10477	1364	48	5		5	NLRP2	19	55501996	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	11444386	55501996	3626987	104	11035											
NLRP5	126206	broad.mit.edu	37	chr19	56539073	56539073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtgggggagagcgtcGcccccttcaaccaaacgctc	8	6	13	14	4	1	1	1	0	0	1	3	2	1	1	3	3	3	1	3	3	2	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:56539073G>A	ENST00000390649.3	+	7	1474	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	492	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGAGCGTCGCCCCCTTCAA	0.637																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1474-1476)Gcc>Acc		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							30	34	32					19																	56539073		2130	4236	6366	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539073G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1474G>A	19.37:g.56539073G>A	ENSP00000375063:p.Ala492Thr					NLRP5_uc002qmi.3_Missense_Mutation_p.A473T	p.A492T	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	1474	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	492			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1474G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.516949	0.00975	.	.	ENSG00000171487	ENST00000390649	T	0.72835	-0.69	2.53	-5.05	0.02955	.	0.939026	0.08727	N	0.902612	T	0.32102	0.0818	N	0.04636	-0.2	0.09310	N	1	B	0.26744	0.158	B	0.15484	0.013	T	0.33574	-0.9863	10	0.07175	T	0.84	.	0.1945	0.00138	0.3704:0.1887:0.1894:0.2516	.	492	P59047	NALP5_HUMAN	T	492	ENSP00000375063:A492T	ENSP00000375063:A492T	A	+	1	0	NLRP5	61230885	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.765000	0.04730	-1.457000	0.01919	-1.036000	0.02392	GCC		0.637	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56539073	G	A	56539073	3	1	156	1	0	0	0	0	1	0	0	0	10480	1087	38	1	1500	1	NLRP5	19	56539073	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	1037077	56539073	2589910	105	11036											
VPS16	64601	broad.mit.edu	37	chr20	2843940	2843940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggtctaccaggctcGtgttgcggagactttacccc	6	9	11	15	3	1	1	0	0	1	1	2	2	1	1	5	3	3	2	5	3	2	4	rs377198108		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:2843940G>A	ENST00000380445.3	+	15	1444	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.V314M|VPS16_ENST00000380443.3_Missense_Mutation_p.V144M|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	458					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TACCAGGCTCGTGTTGCGGAG	0.592																																						uc002whe.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1372-1374)Gtg>Atg		Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	91	81	85		1372,940	4.7	1	20		85	0,8600		0,0,4300	no	missense,missense	VPS16	NM_022575.2,NM_080413.1	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	458/840,314/696	2843940	1,13005	2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843940G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1372G>A	20.37:g.2843940G>A	ENSP00000369810:p.Val458Met					PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.V314M|VPS16_uc002whg.3_Missense_Mutation_p.V144M	p.V458M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			14	1420	+			458					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1372G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867584	0.72065	2.27E-4	0.0	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.46451	0.87;0.88;0.87	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.94;0.983;0.962	T	0.64846	-0.6311	10	0.87932	D	0	-17.1139	15.1055	0.72319	0.0:0.0:1.0:0.0	.	144;314;458	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	M	458;314;196;144	ENSP00000369810:V458M;ENSP00000369836:V314M;ENSP00000369808:V144M	ENSP00000369808:V144M	V	+	1	0	VPS16	2791940	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	5.651000	0.67951	2.426000	0.82243	0.561000	0.74099	GTG		0.592	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		A	2843940	G	A	2843940	3	1	156	1	0	0	0	0	1	0	0	0	17190	1145	40	1	1430	1	VPS16	20	2843940	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		2843940	60181580	106	11037											
SMOX	54498	broad.mit.edu	37	chr20	4162543	4162543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcacccgagaggaggtgCgtaaccgcatcaggaatgac	11	7	13	10	3	2	2	2	1	0	1	2	5	2	4	2	3	2	3	2	3	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:4162543C>T	ENST00000305958.4	+	4	754	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	SMOX_ENST00000379460.2_Missense_Mutation_p.R177C|SMOX_ENST00000339123.6_Missense_Mutation_p.R177C|SMOX_ENST00000278795.3_Missense_Mutation_p.R177C|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000484515.1_3'UTR	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	177					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGGTGCGTAACCGCAT	0.537																																						uc002wkp.2																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(529-531)Cgt>Tgt		Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	Spermine(DB00127)						91	89	90					20																	4162543		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4162543C>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.529C>T	20.37:g.4162543C>T	ENSP00000307252:p.Arg177Cys					SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkm.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.R177C	p.R177C	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			3	730	+			177					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.529C>T	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852025	0.71719	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;T	0.92545	-3.06;-3.06;-3.06;-3.06;1.43	5.44	4.5	0.54988	Amine oxidase (1);	0.663946	0.16370	N	0.217380	D	0.94288	0.8165	L	0.58810	1.83	0.80722	D	1	D;B;D;D;B	0.89917	1.0;0.011;1.0;0.999;0.006	D;B;D;P;B	0.65773	0.938;0.01;0.938;0.804;0.004	D	0.93350	0.6717	10	0.54805	T	0.06	-10.3473	12.3563	0.55178	0.0:0.917:0.0:0.083	.	154;177;177;177;177	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	C	177;177;177;177;34	ENSP00000344595:R177C;ENSP00000307252:R177C;ENSP00000278795:R177C;ENSP00000368773:R177C;ENSP00000407269:R34C	ENSP00000278795:R177C	R	+	1	0	SMOX	4110543	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.089000	0.71384	1.313000	0.45069	0.558000	0.71614	CGT		0.537	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		T	4162543	C	T	4162543	3	4	156	1	0	0	0	0	1	0	0	0	14803	768	27	1	539	1	SMOX	20	4162543	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1318603	4162543	58862977	107	11038											
ZNF831	128611	broad.mit.edu	37	chr20	57767832	57767832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgcagaggacacagaCgcaaagagaactgctgcgcg	12	3	14	12	4	0	3	0	0	0	3	0	5	0	4	1	1	4	3	1	1	2	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:57767832C>T	ENST00000371030.2	+	1	1758	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	586							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACACAGACGCAAAGAGAA	0.672																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1756-1758)gaC>gaT		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							19	23	22					20																	57767832		2033	4167	6200	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767832C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1758C>T	20.37:g.57767832C>T							p.D586D	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	1758	+	all_lung(29;0.0085)		586					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1758C>T	CCDS42894.1																																																																																				0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57767832	C	T	57767832	2	4	156	1	0	0	0	0	0	0	0	1	18182	535	19	1		1	ZNF831	20	57767832	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	53605289	57767832	5257688	108	11039											
SAMSN1	64092	broad.mit.edu	37	chr21	15889263	15889263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacccacttttttcttcaTtgtccatgaaatagctctca	9	18	3	11	0	3	1	2	1	2	0	5	1	4	1	2	0	2	1	2	0	3	8			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr21:15889263T>C	ENST00000400566.1	-	3	310	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	SAMSN1_ENST00000285670.2_Missense_Mutation_p.M145V|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	77					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTTCTTCATTGTCCATGAA	0.338																																						uc002yju.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(229-231)Atg>Gtg		Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.							133	116	121					21																	15889263		1795	4067	5862	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889263T>C	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.229A>G	21.37:g.15889263T>C	ENSP00000383411:p.Met77Val					SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	p.M77V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	2	311	-			77					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.229A>G	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022137	0.75275	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.66995	-0.24;-0.24	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.87900	2.915	0.53005	D	0.999963	P;P	0.47604	0.655;0.898	B;P	0.51415	0.269;0.669	T	0.82653	-0.0351	10	0.54805	T	0.06	-12.8173	15.3481	0.74359	0.0:0.0:0.0:1.0	.	145;77	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	V	145;77	ENSP00000285670:M145V;ENSP00000383411:M77V	ENSP00000285670:M145V	M	-	1	0	SAMSN1	14811134	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.666000	0.74446	2.033000	0.60031	0.533000	0.62120	ATG		0.338	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			C	15889263	T	C	15889263	3	2	156	1	0	0	0	0	1	0	0	0	13830	1493	52	4	916	4	SAMSN1	21	15889263	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		15889263	32240632	109	11040											
PCYT1B	9468	broad.mit.edu	37	chrX	24580418	24580418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagcagcctctacttttCatcctcatccccctcgctca	6	12	3	20	1	4	0	3	0	1	0	8	0	7	0	5	0	3	2	5	0	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:24580418C>G	ENST00000379144.2	-	8	1232	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	PCYT1B_ENST00000356768.4_Intron|PCYT1B_ENST00000379145.1_Missense_Mutation_p.E350Q	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	368					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTCTACTTTTCATCCTCATCC	0.577																																						uc004dbi.3																			0		p.E368G(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(1102-1104)Gaa>Caa		Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	Choline(DB00122)						42	32	36					X																	24580418		2203	4298	6501	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24580418C>G	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.1102G>C	X.37:g.24580418C>G	ENSP00000368439:p.Glu368Gln					PCYT1B_uc004dbk.4_Intron|PCYT1B_uc004dbj.3_Missense_Mutation_p.E350Q	p.E368Q	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN			7	1335	-			368					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.1102G>C	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392163	0.83011	.	.	ENSG00000102230	ENST00000379145;ENST00000379144	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	L	0.44542	1.39	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.60789	0.833;0.879	T	0.74179	-0.3749	9	0.72032	D	0.01	-30.2285	19.163	0.93543	0.0:1.0:0.0:0.0	.	350;368	E9PD84;Q9Y5K3	.;PCY1B_HUMAN	Q	350;368	.	ENSP00000368439:E368Q	E	-	1	0	PCYT1B	24490339	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.167000	0.77562	2.476000	0.83614	0.544000	0.68410	GAA		0.577	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		G	24580418	C	G	24580418	3	3	156	1	0	0	0	0	1	0	0	0	11611	835	29	5	48	5	PCYT1B	23	24580418	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		24580418	130690142	110	11041											
DMD	1756	broad.mit.edu	37	chrX	32563337	32563337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaggtggtggtggaaGttcctcttgagcatgcttta	6	14	16	5	0	1	1	0	1	1	0	2	3	2	3	1	6	2	3	1	6	2	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:32563337G>T	ENST00000357033.4	-	17	2313	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	DMD_ENST00000288447.4_Missense_Mutation_p.L695I|DMD_ENST00000378677.2_Missense_Mutation_p.L699I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	703					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGGTGGAAGTTCCTCTTGA	0.448																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2107-2109)Ctt>Att		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							274	197	223					X																	32563337		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32563337G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2107C>A	X.37:g.32563337G>T	ENSP00000354923:p.Leu703Ile					DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.L695I	p.L703I	NM_004006	NP_004001	P11532	DMD_HUMAN			16	2351	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	703					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2107C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389040	0.42308	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73363	-0.03;-0.04;-0.74	5.64	2.88	0.33553	.	0.240677	0.20557	U	0.089992	T	0.70509	0.3232	M	0.68952	2.095	0.21652	N	0.999609	B;B;P;B	0.45986	0.104;0.03;0.87;0.018	B;B;B;B	0.42555	0.035;0.02;0.391;0.009	T	0.61978	-0.6951	10	0.52906	T	0.07	.	8.2752	0.31868	0.145:0.1262:0.7287:0.0	.	695;695;703;699	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	695;699;703;703;580;695	ENSP00000367948:L699I;ENSP00000354923:L703I;ENSP00000288447:L695I	ENSP00000288447:L695I	L	-	1	0	DMD	32473258	1.000000	0.71417	0.927000	0.36925	0.996000	0.88848	2.786000	0.47790	0.170000	0.19704	0.506000	0.49869	CTT		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32563337	G	T	32563337	3	4	156	1	0	0	0	0	1	0	0	0	4580	1029	36	5	9445	5	DMD	23	32563337	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	7982919	32563337	122707223	111	11042											
CXorf22	170063	broad.mit.edu	37	chrX	35989828	35989828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaaattcaattagagCgaatcgattgttaaccacca	16	9	7	9	2	1	1	1	0	0	1	2	3	1	1	2	0	4	3	2	0	5	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:35989828C>T	ENST00000297866.5	+	12	2162	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	699										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAATTAGAGCGAATCGATTG	0.448																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2095-2097)gCg>gTg		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							51	45	47					X																	35989828		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989828C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2096C>T	X.37:g.35989828C>T	ENSP00000297866:p.Ala699Val					CXorf22_uc010ngv.3_Non-coding_Transcript	p.A699V	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			11	2162	+			699					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2096C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519233	0.27211	.	.	ENSG00000165164	ENST00000297866	T	0.15017	2.46	5.72	-4.71	0.03279	.	1.352200	0.04497	N	0.380495	T	0.11324	0.0276	L	0.44542	1.39	0.09310	N	1	B	0.21753	0.06	B	0.10450	0.005	T	0.29941	-0.9995	10	0.13853	T	0.58	1.8838	4.1328	0.10158	0.4426:0.148:0.3308:0.0785	.	699	Q6ZTR5	CX022_HUMAN	V	699	ENSP00000297866:A699V	ENSP00000297866:A699V	A	+	2	0	CXorf22	35899749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.764000	0.04735	-0.798000	0.04444	0.600000	0.82982	GCG		0.448	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35989828	C	T	35989828	3	4	156	1	0	0	0	0	1	0	0	0	4102	768	27	1	2142	1	CXorf22	23	35989828	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	3426491	35989828	119280732	112	11043											
THOC2	57187	broad.mit.edu	37	chrX	122799597	122799597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattgaacacgtctctccTcaaatcttcaaagctctcag	12	12	4	13	1	5	1	3	1	3	0	8	1	6	1	1	0	2	1	1	0	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:122799597T>C	ENST00000245838.8	-	12	1313	c.1282A>G	c.(1282-1284)Agg>Ggg	p.R428G	THOC2_ENST00000491737.1_Missense_Mutation_p.R313G|THOC2_ENST00000355725.4_Missense_Mutation_p.R428G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	428					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACGTCTCTCCTCAAATCTTCA	0.403																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1282-1284)Agg>Ggg		Homo sapiens THO complex 2 (THOC2), mRNA.							176	165	169					X																	122799597		1871	4093	5964	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122799597T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1282A>G	X.37:g.122799597T>C	ENSP00000245838:p.Arg428Gly					THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	p.R428G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			11	1314	-			428					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1282A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873952	0.51695	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.7	5.7	0.88788	.	0.069441	0.64402	D	0.000017	T	0.60143	0.2246	M	0.68317	2.08	0.58432	D	0.999993	B;B	0.25521	0.02;0.128	B;B	0.21546	0.016;0.035	T	0.56896	-0.7903	9	0.23891	T	0.37	-12.4951	14.9132	0.70773	0.0:0.0:0.0:1.0	.	349;428	B4DKZ6;Q8NI27	.;THOC2_HUMAN	G	428;428;313;349	.	ENSP00000245838:R428G	R	-	1	2	THOC2	122627278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.372000	0.52387	1.904000	0.55121	0.486000	0.48141	AGG		0.403	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122799597	T	C	122799597	3	2	156	1	0	0	0	0	1	0	0	0	15862	1550	54	4	3607	4	THOC2	23	122799597	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	86809769	122799597	32470963	113	11044											
HES5	388585	broad.mit.edu	37	chr1	2461382	2461382	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaactcctgctccagcagCagcttcagctgctcgatgct	7	9	10	15	2	1	0	1	0	0	0	4	2	3	0	2	0	8	7	2	0	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:2461382C>G	ENST00000378453.3	-	2	203	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_001010926.3	NP_001010926.1	Q5TA89	HES5_HUMAN	hes family bHLH transcription factor 5	41	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				astrocyte differentiation (GO:0048708)|auditory receptor cell differentiation (GO:0042491)|auditory receptor cell fate determination (GO:0042668)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cartilage development (GO:0051216)|cell adhesion (GO:0007155)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|comma-shaped body morphogenesis (GO:0072049)|forebrain radial glial cell differentiation (GO:0021861)|glial cell fate commitment (GO:0021781)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of forebrain neuron differentiation (GO:2000978)|negative regulation of inner ear receptor cell differentiation (GO:2000981)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein complex assembly (GO:0006461)|regulation of cell differentiation (GO:0045595)|regulation of myelination (GO:0031641)|regulation of neurogenesis (GO:0050767)|S-shaped body morphogenesis (GO:0072050)|smoothened signaling pathway (GO:0007224)|specification of loop of Henle identity (GO:0072086)|telencephalon development (GO:0021537)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription factor binding (GO:0008134)			lung(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCTCCAGCAGCAGCTTCAGCT	0.647																																						uc001ajn.3																			0				lung(1)	1						c.(121-123)ctG>ctC		Homo sapiens hairy and enhancer of split 5 (Drosophila) (HES5), mRNA.							22	24	24					1																	2461382		2017	4179	6196	SO:0001819	synonymous_variant	388585				transcription, DNA-dependent	nucleus		g.chr1:2461382C>G	AL139246	CCDS41233.1	1p36	2013-10-17	2013-10-17		ENSG00000197921	ENSG00000197921		"Basic helix-loop-helix proteins"	19764	protein-coding gene	gene with protein product		607348	"hairy and enhancer of split 5 (Drosophila)"			7836401	Standard	NM_001010926		Approved	bHLHb38	uc001ajn.3	Q5TA89	OTTHUMG00000000793	ENST00000378453.3:c.123G>C	1.37:g.2461382C>G							p.L41L	NM_001010926	NP_001010926	Q5TA89	HES5_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	1	204	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	41			Helix-loop-helix motif.		B9DI85	Silent	SNP	ENST00000378453.3	37	c.123G>C	CCDS41233.1																																																																																				0.647	HES5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002102.1			G	2461382	C	G	2461382	2	3	157	1	0	0	0	0	0	0	0	1	7069	697	25	5		5	HES5	1	2461382	Silent	SNP	C	TCGA-19-2624-01A-01D-1495-08		2461382	246789239	1	11045											
PTPRF	5792	broad.mit.edu	37	chr1	44085120	44085120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtgttcatccatgaggCgctgctggaggctgccacgt	6	10	14	11	3	1	1	1	1	0	0	2	2	2	2	2	3	3	5	2	3	1	2	rs373838949		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:44085120C>A	ENST00000359947.4	+	28	5148	c.4808C>A	c.(4807-4809)gCg>gAg	p.A1603E	PTPRF_ENST00000372414.3_Missense_Mutation_p.A1603E|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1594E|PTPRF_ENST00000422171.2_Missense_Mutation_p.A962E|PTPRF_ENST00000438120.1_Missense_Mutation_p.A1594E	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1603	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCATGAGGCGCTGCTGGAG	0.607																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(4807-4809)gCg>gAg		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							70	66	67					1																	44085120		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085120C>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4808C>A	1.37:g.44085120C>A	ENSP00000353030:p.Ala1603Glu					PTPRF_uc001cjs.3_Missense_Mutation_p.A1594E|PTPRF_uc001cju.3_Missense_Mutation_p.A992E|PTPRF_uc009vwt.3_Missense_Mutation_p.A1163E|PTPRF_uc001cjv.3_Missense_Mutation_p.A1074E|PTPRF_uc001cjw.3_Missense_Mutation_p.A829E	p.A1603E	NM_002840	NP_002831	P10586	PTPRF_HUMAN			27	5148	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1603			Tyrosine-protein phosphatase 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4808C>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353441|4.353441	0.82243|0.82243	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.34;1.34|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34133|.	N|.	0.004222|.	D|D	0.91676|0.91676	0.7369|0.7369	H|H	0.99507|0.99507	4.6|4.6	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	0.997;0.998;0.997;0.994;1.0|.	D|D	0.95283|0.95283	0.8388|0.8388	10|5	0.87932|.	D|.	0|.	.|.	18.9146|18.9146	0.92499|0.92499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1248;962;1180;1594;1603|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	E|S	1603;1594;1603;1594;962;675|1249	ENSP00000353030:A1603E;ENSP00000398822:A1594E;ENSP00000361491:A1603E;ENSP00000361490:A1594E;ENSP00000387885:A962E;ENSP00000361484:A675E|.	ENSP00000353030:A1603E|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43857707|43857707	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.960000|0.960000	0.62799|0.62799	6.014000|6.014000	0.70784|0.70784	2.633000|2.633000	0.89246|0.89246	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44085120	C	A	44085120	3	1	157	1	0	0	0	0	1	0	0	0	12801	768	27	5	4910	5	PTPRF	1	44085120	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	41623738	44085120	205165501	2	11046											
KANK4	163782	broad.mit.edu	37	chr1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttccggctggagacgCggaaccactcttgactgatg	9	8	12	12	4	1	3	0	2	1	1	2	6	2	4	2	3	1	1	2	3	1	2	rs374086260		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H|KANK4_ENST00000371150.1_Missense_Mutation_p.R142H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774). {ECO:0000305}.		cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562																																						uc001dah.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(2356-2358)cGc>cAc		Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.		C	HIS/ARG	0,4406		0,0,2203	69	55	60		2357	5.3	1	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	786/996	62728946	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62728946C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2357G>A	1.37:g.62728946C>T	ENSP00000360195:p.Arg786His					KANK4_uc001dai.4_Missense_Mutation_p.R158H|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.R142H	p.R786H	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			6	2734	-			786	R -> H (in Ref. 1; BAC03774).				B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2357G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008210	0.93346	0.0	1.16E-4	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.57752	0.38;0.47;0.48	5.3	5.3	0.74995	.	0.000000	0.35378	N	0.003260	T	0.73273	0.3566	M	0.85777	2.775	0.50313	D	0.999866	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.943	T	0.77281	-0.2646	10	0.72032	D	0.01	-13.7329	13.1198	0.59318	0.0:0.9161:0.0:0.0839	.	158;786	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	H	786;158;142	ENSP00000360195:R786H;ENSP00000346352:R158H;ENSP00000360192:R142H	ENSP00000346352:R158H	R	-	2	0	KANK4	62501534	0.971000	0.33674	0.960000	0.40013	0.984000	0.73092	2.379000	0.44318	2.654000	0.90174	0.561000	0.74099	CGC		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62728946	C	T	62728946	3	4	157	1	0	0	0	0	1	0	0	0	7979	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	18643826	62728946	186521675	3	11047											
CSDE1	7812	broad.mit.edu	37	chr1	115272925	115272925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttaggattggaaaaaGtggcttctttttctaccgtg	8	17	11	5	1	2	0	0	0	2	0	2	2	2	2	1	4	1	2	1	4	4	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:115272925G>C	ENST00000358528.4	-	12	1736	c.1310C>G	c.(1309-1311)aCt>aGt	p.T437S	CSDE1_ENST00000369530.1_Missense_Mutation_p.T452S|CSDE1_ENST00000261443.5_Missense_Mutation_p.T406S|CSDE1_ENST00000534699.1_Missense_Mutation_p.T437S|CSDE1_ENST00000530886.1_Missense_Mutation_p.T307S|CSDE1_ENST00000339438.6_Missense_Mutation_p.T406S|CSDE1_ENST00000438362.2_Missense_Mutation_p.T483S|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	437					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378																																						uc001efi.3																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1447-1449)aCt>aGt		Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.							125	132	130					1																	115272925		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272925G>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1310C>G	1.37:g.115272925G>C	ENSP00000351329:p.Thr437Ser					CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.T437S|CSDE1_uc001efm.3_Missense_Mutation_p.T452S|CSDE1_uc009wgv.3_Missense_Mutation_p.T437S|CSDE1_uc001efl.3_Missense_Mutation_p.T406S|CSDE1_uc001efn.3_Missense_Mutation_p.T406S	p.T483S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1970	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	437			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1448C>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649343	0.29336	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	5.85	0.93711	.	0.246207	0.42053	D	0.000774	T	0.55847	0.1946	L	0.38531	1.155	0.38485	D	0.947812	B;B;D	0.56035	0.278;0.131;0.974	B;B;D	0.67725	0.057;0.026;0.953	T	0.45512	-0.9256	9	0.08837	T	0.75	-7.3357	20.1731	0.98165	0.0:0.0:1.0:0.0	.	452;437;483	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	S	406;483;437;406;307;452;437	.	ENSP00000261443:T406S	T	-	2	0	CSDE1	115074448	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.265000	0.51561	2.768000	0.95171	0.655000	0.94253	ACT		0.378	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		C	115272925	G	C	115272925	3	2	157	1	0	0	0	0	1	0	0	0	3929	1029	36	5	1122	5	CSDE1	1	115272925	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	52543979	115272925	133977696	4	11048											
F11R	50848	broad.mit.edu	37	chr1	160970003	160970003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgggtgcttttgggattcGtaggcatcactatcccatct	7	13	10	11	2	2	0	1	0	1	0	4	1	3	1	1	3	1	3	1	3	2	5	rs144844671		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:160970003G>A	ENST00000368026.6	-	5	798	c.524C>T	c.(523-525)aCg>aTg	p.T175M	F11R_ENST00000537746.1_Missense_Mutation_p.T126M|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	175	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TTTGGGATTCGTAGGCATCAC	0.517													G|||	1	0.000199681	0	0	5008	,	,		20917	0.001		0	False		,,,				2504	0					uc009wtt.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(523-525)aCg>aTg		Homo sapiens F11 receptor (F11R), mRNA.							150	139	143					1																	160970003		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970003G>A	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.524C>T	1.37:g.160970003G>A	ENSP00000357005:p.Thr175Met					F11R_uc010pjv.2_Missense_Mutation_p.T126M|F11R_uc010pjw.2_Missense_Mutation_p.T179M|F11R_uc001fxf.4_Missense_Mutation_p.T175M	p.T175M	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		4	794	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		175			Ig-like V-type 2.		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.524C>T	CCDS1213.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.407	1.079460	0.20227	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.13420	2.59;2.59;2.59	5.16	-5.05	0.02955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.434430	0.04014	N	0.298614	T	0.02304	0.0071	L	0.28054	0.825	0.09310	N	1	P;P;P;P;P	0.50819	0.939;0.907;0.931;0.931;0.931	B;B;B;B;B	0.41440	0.22;0.313;0.27;0.27;0.357	T	0.23226	-1.0194	10	0.39692	T	0.17	.	0.8353	0.01139	0.3009:0.103:0.2935:0.3026	.	179;126;175;175;175	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	M	175;175;175;126;179	ENSP00000357005:T175M;ENSP00000440812:T126M;ENSP00000394809:T179M	ENSP00000289779:T175M	T	-	2	0	F11R	159236627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.841000	0.04200	0.563000	0.77884	ACG		0.517	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		A	160970003	G	A	160970003	3	1	157	1	0	0	0	0	1	0	0	0	5338	1145	40	1	399	1	F11R	1	160970003	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	45697078	160970003	88280618	5	11049											
LAMC1	3915	broad.mit.edu	37	chr1	183101569	183101569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatgacattgttcgagtgGcaaagacagccaatgatacg	13	9	11	8	2	0	4	0	3	0	1	1	5	0	4	1	1	2	2	1	1	3	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:183101569G>A	ENST00000258341.4	+	21	3858	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1201	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTTCGAGTGGCAAAGACAGC	0.388																																						uc001gpy.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3601-3603)Gca>Aca		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133	119	124					1																	183101569		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183101569G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3601G>A	1.37:g.183101569G>A	ENSP00000258341:p.Ala1201Thr						p.A1201T	NM_002293	NP_002284	P11047	LAMC1_HUMAN			20	3858	+			1201			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3601G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534957	0.96460	.	.	ENSG00000135862	ENST00000258341	T	0.21734	1.99	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54118	-0.8341	10	0.87932	D	0	.	18.8505	0.92227	0.0:0.0:1.0:0.0	.	1201	P11047	LAMC1_HUMAN	T	1201	ENSP00000258341:A1201T	ENSP00000258341:A1201T	A	+	1	0	LAMC1	181368192	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	9.099000	0.94207	2.541000	0.85698	0.655000	0.94253	GCA		0.388	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183101569	G	A	183101569	3	1	157	1	0	0	0	0	1	0	0	0	8614	1203	42	3	3683	3	LAMC1	1	183101569	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	22131566	183101569	66149052	6	11050											
ZC3H11A	9877	broad.mit.edu	37	chr1	203818961	203818961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagtcttgacacctcttcgGggagatgtagcctcttgcaa	8	12	10	11	1	4	2	1	1	3	1	5	3	4	2	2	2	2	2	2	2	2	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:203818961G>A	ENST00000545588.1	+	14	5573	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	ZC3H11A_ENST00000367214.1_Silent_p.R582R|ZC3H11A_ENST00000332127.4_Silent_p.R582R|ZC3H11A_ENST00000367212.3_Silent_p.R582R|ZC3H11A_ENST00000367210.1_Silent_p.R582R	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	582					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCTTCGGGGAGATGTAG	0.493																																						uc001hac.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1744-1746)cgG>cgA		Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.							100	94	96					1																	203818961		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203818961G>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1746G>A	1.37:g.203818961G>A						ZC3H11A_uc001had.3_Silent_p.R582R|ZC3H11A_uc001hae.3_Silent_p.R582R|ZC3H11A_uc001haf.3_Silent_p.R582R|ZC3H11A_uc010pqm.2_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R	p.R582R	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		16	2362	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		582					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.1746G>A	CCDS30978.1																																																																																				0.493	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		A	203818961	G	A	203818961	2	1	157	1	0	0	0	0	0	0	0	1	17557	1219	43	3		3	ZC3H11A	1	203818961	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	20717392	203818961	45431660	7	11051											
CEP170	9859	broad.mit.edu	37	chr1	243362438	243362438	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttcatccacctcatcAtccccccaccatgacggctg	7	12	4	18	1	3	1	3	1	0	0	5	1	5	1	6	1	0	1	6	1	0	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:243362438A>G	ENST00000366542.1	-	7	606	c.555T>C	c.(553-555)gaT>gaC	p.D185D	CEP170_ENST00000366543.1_Silent_p.D185D|CEP170_ENST00000366544.1_Silent_p.D185D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	185						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCACCTCATCATCCCCCCACC	0.428																																						uc021plo.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(553-555)gaT>gaC		Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.							64	58	60					1																	243362438		1832	4082	5914	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243362438A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.555T>C	1.37:g.243362438A>G						CEP170_uc021plp.1_Silent_p.D185D|CEP170_uc021plq.1_Silent_p.D185D	p.D185D	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		6	963	-	all_neural(11;0.101)	all_cancers(173;0.003)	185					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.555T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	9.454	1.091275	0.20471	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.05	-0.0447	0.13854	.	.	.	.	.	T	0.42630	0.1211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	-13.9473	2.447	0.04508	0.5003:0.1139:0.2752:0.1105	.	.	.	.	T	87	.	.	M	-	2	0	CEP170	241429061	0.992000	0.36948	0.968000	0.41197	0.946000	0.59487	0.515000	0.22801	-0.034000	0.13713	-0.566000	0.04163	ATG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		G	243362438	A	G	243362438	2	3	157	1	0	0	0	0	0	0	0	1	3250	214	8	4		4	CEP170	1	243362438	Silent	SNP	A	TCGA-19-2624-01A-01D-1495-08	39543477	243362438	5888183	8	11052											
TTN	7273	broad.mit.edu	37	chr2	179442793	179442793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattgattgccataactcGgaattcatattcaagacctt	14	14	5	8	1	2	2	2	1	0	1	3	3	2	3	2	1	2	0	2	1	6	8	rs371678190		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:179442793G>A	ENST00000591111.1	-	272	63750	c.63526C>T	c.(63526-63528)Cga>Tga	p.R21176*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R20249*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R13944*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R13877*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R13752*|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R22817*|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21176	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATAACTCGGAATTCATAT	0.423																																						uc021vsy.1																			5	Substitution - Nonsense(5)	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1)	breast(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60745-60747)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							115	108	110					2																	179442793		1888	4122	6010	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442793G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63526C>T	2.37:g.179442793G>A	ENSP00000465570:p.Arg21176*					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R13944*|TTN_uc021vta.1_Nonsense_Mutation_p.R13877*|TTN_uc021vtb.1_Nonsense_Mutation_p.R13752*|AX746670_uc002umv.1_5'Flank	p.R20249*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		270	60970	-			21176			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.60745C>T		.	.	.	.	.	.	.	.	.	.	G	62	64.110339	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.83	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4749	0.75471	0.0:0.0:0.2295:0.7705	.	.	.	.	X	20249;13752;13944;13877;13750	.	ENSP00000340554:R13944X	R	-	1	2	TTN	179151039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.767000	0.38501	0.312000	0.23038	0.650000	0.86243	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179442793	G	A	179442793	4	1	157	1	0	0	0	0	0	1	0	0	16732	1124	39	2	39694	2	TTN	2	179442793	Nonsense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		179442793	63756580	9	11053											
KCTD18	130535	broad.mit.edu	37	chr2	201371625	201371625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgaccactgaacatagatgCcaacatggagtccttgaagc	13	7	10	11	1	0	3	0	2	0	1	1	5	1	4	3	1	4	0	3	1	4	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:201371625C>A	ENST00000359878.3	-	2	625	c.115G>T	c.(115-117)Gca>Tca	p.A39S	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.A39S	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	39	BTB.				protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AACATAGATGCCAACATGGAG	0.458																																						uc002uvs.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(115-117)Gca>Tca		Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.							83	88	86					2																	201371625		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201371625C>A	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.115G>T	2.37:g.201371625C>A	ENSP00000352941:p.Ala39Ser					KCTD18_uc002uvt.3_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S	p.A39S	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN			1	632	-			39			BTB.		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.115G>T	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988625	0.53934	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76060	-0.99;-0.99	5.46	4.59	0.56863	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000005	T	0.60064	0.2240	N	0.25890	0.77	0.32592	N	0.526991	B;P	0.37061	0.004;0.58	B;B	0.37550	0.004;0.253	T	0.67126	-0.5749	10	0.33141	T	0.24	-21.711	8.9979	0.36063	0.1467:0.7789:0.0:0.0744	.	39;39	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	S	39	ENSP00000352941:A39S;ENSP00000386751:A39S	ENSP00000352941:A39S	A	-	1	0	KCTD18	201079870	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.564000	0.36375	1.545000	0.49373	0.655000	0.94253	GCA		0.458	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		A	201371625	C	A	201371625	3	1	157	1	0	0	0	0	1	0	0	0	8105	739	26	5	1189	5	KCTD18	2	201371625	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	21928832	201371625	41827748	10	11054											
PARD3B	117583	broad.mit.edu	37	chr2	205986432	205986432	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctctcttaacatttttggTaataatgatggcgttttgaa	10	17	9	5	1	1	2	0	2	1	0	2	2	1	2	0	3	1	3	0	3	4	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:205986432T>C	ENST00000406610.2	+	8	1131	c.924T>C	c.(922-924)ggT>ggC	p.G308G	PARD3B_ENST00000462231.1_Silent_p.G308G|PARD3B_ENST00000349953.3_Silent_p.G308G|PARD3B_ENST00000351153.1_Silent_p.G308G|PARD3B_ENST00000358768.2_Silent_p.G308G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	308					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACATTTTTGGTAATAATGATG	0.453																																						uc002var.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(922-924)ggT>ggC		Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.							119	111	114					2																	205986432		1908	4140	6048	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205986432T>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.924T>C	2.37:g.205986432T>C						PARD3B_uc010fub.2_Silent_p.G308G|PARD3B_uc002vao.2_Silent_p.G308G|PARD3B_uc002vap.2_Silent_p.G308G|PARD3B_uc002vaq.2_Silent_p.G308G	p.G308G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	1131	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	308					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.924T>C																																																																																					0.453	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		C	205986432	T	C	205986432	2	2	157	1	0	0	0	0	0	0	0	1	11444	1625	57	4		4	PARD3B	2	205986432	Silent	SNP	T	TCGA-19-2624-01A-01D-1495-08	4614807	205986432	37212941	11	11055											
ALPP	250	broad.mit.edu	37	chr2	233244353	233244353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccagtgcaacacgacacGcggcaacgaggtcatctccg	12	5	10	14	5	2	0	1	0	1	0	3	2	2	0	2	2	4	2	2	2	3	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:233244353G>A	ENST00000392027.2	+	4	709	c.440G>A	c.(439-441)cGc>cAc	p.R147H	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	147					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AACACGACACGCGGCAACGAG	0.607																																						uc002vsq.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(439-441)cGc>cAc		Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.							43	40	41					2																	233244353		2203	4296	6499	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244353G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.440G>A	2.37:g.233244353G>A	ENSP00000375881:p.Arg147His						p.R147H	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	605	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	147					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.440G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	3.490	-0.103998	0.06967	.	.	ENSG00000163283	ENST00000392027	D	0.96334	-3.98	2.22	-4.45	0.03546	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.930262	0.09331	N	0.816823	D	0.88636	0.6490	L	0.27975	0.815	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.77621	-0.2519	10	0.23302	T	0.38	.	0.951	0.01376	0.4227:0.1124:0.1479:0.317	.	147	P05187	PPB1_HUMAN	H	147	ENSP00000375881:R147H	ENSP00000375881:R147H	R	+	2	0	ALPP	232952597	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-3.989000	0.00319	-1.159000	0.02807	0.298000	0.19748	CGC		0.607	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		A	233244353	G	A	233244353	3	1	157	1	0	0	0	0	1	0	0	0	548	1087	38	1	454	1	ALPP	2	233244353	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	27257921	233244353	9955020	12	11056											
HES1	3280	broad.mit.edu	37	chr3	193855643	193855643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatcaatgccatgacctAccccgggcagccgcaccccg	9	4	9	19	3	1	2	1	1	0	1	1	2	1	2	8	1	3	2	8	1	2	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr3:193855643A>C	ENST00000232424.3	+	4	700	c.464A>C	c.(463-465)tAc>tCc	p.Y155S		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCCATGACCTACCCCGGGCAG	0.731																																						uc003ftq.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(463-465)tAc>tCc		Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.							36	37	37					3																	193855643		2203	4300	6503	SO:0001583	missense	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855643A>C	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.464A>C	3.37:g.193855643A>C	ENSP00000232424:p.Tyr155Ser						p.Y155S	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	3	703	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		155					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000232424.3	37	c.464A>C	CCDS3305.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538844	0.45176	.	.	ENSG00000114315	ENST00000232424	T	0.18338	2.22	4.6	3.4	0.38934	.	0.091745	0.44097	U	0.000491	T	0.13114	0.0318	L	0.39898	1.24	0.54753	D	0.999988	B	0.29481	0.245	B	0.24269	0.052	T	0.07868	-1.0750	10	0.34782	T	0.22	-4.353	9.9087	0.41392	0.8473:0.0:0.0:0.1527	.	155	Q14469	HES1_HUMAN	S	155	ENSP00000232424:Y155S	ENSP00000232424:Y155S	Y	+	2	0	HES1	195338337	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.603000	0.67619	0.688000	0.31529	0.454000	0.30748	TAC		0.731	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			C	193855643	A	C	193855643	3	2	157	1	0	0	0	0	1	0	0	0	7065	391	14	5	478	5	HES1	3	193855643	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		193855643	4166787	13	11057											
PLCXD3	345557	broad.mit.edu	37	chr5	41313846	41313846	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttctgcgtgcggAcccactgcatcatggcagga	6	9	12	14	2	2	0	1	0	1	0	3	2	3	2	2	4	3	3	2	4	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:41313846A>T	ENST00000377801.3	-	3	913	c.839T>A	c.(838-840)gTc>gAc	p.V280D	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V280D			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	280					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGCGTGCGGACCCACTGCAT	0.433																																						uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(838-840)gTc>gAc		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							77	72	74					5																	41313846		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313846A>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.839T>A	5.37:g.41313846A>T	ENSP00000367032:p.Val280Asp						p.V280D	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	941	-			280					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.839T>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583737	0.86748	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.116192	0.64402	D	0.000016	T	0.53658	0.1810	L	0.46819	1.47	0.80722	D	1	P	0.48407	0.91	B	0.41271	0.352	T	0.60647	-0.7222	9	0.72032	D	0.01	-6.8615	15.8879	0.79264	1.0:0.0:0.0:0.0	.	280	Q63HM9	PLCX3_HUMAN	D	280	.	ENSP00000333751:V280D	V	-	2	0	PLCXD3	41349603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.886000	0.92447	2.163000	0.67991	0.533000	0.62120	GTC		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		T	41313846	A	T	41313846	3	4	157	1	0	0	0	0	1	0	0	0	12043	275	10	5	130	5	PLCXD3	5	41313846	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		41313846	139601414	14	11058											
NMUR2	56923	broad.mit.edu	37	chr5	151784217	151784217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctctgcagtttggcgCggaacgggtgtaggatggcc	5	9	19	8	3	1	0	0	0	1	0	1	2	1	2	1	6	3	4	1	6	2	2	rs370782921		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:151784217C>T	ENST00000255262.3	-	1	623	c.458G>A	c.(457-459)cGc>cAc	p.R153H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	153					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGTTTGGCGCGGAACGGGTG	0.637																																						uc003luv.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(457-459)cGc>cAc		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							47	53	51					5																	151784217		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784217C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.458G>A	5.37:g.151784217C>T	ENSP00000255262:p.Arg153His						p.R153H	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		0	624	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	153					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.458G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072172	0.55646	.	.	ENSG00000132911	ENST00000255262	T	0.39406	1.08	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.170414	0.42548	D	0.000689	T	0.58192	0.2105	M	0.62723	1.935	0.44330	D	0.997219	D	0.89917	1.0	D	0.68353	0.957	T	0.57883	-0.7734	10	0.48119	T	0.1	-15.3605	11.5244	0.50571	0.0:0.9184:0.0:0.0816	.	153	Q9GZQ4	NMUR2_HUMAN	H	153	ENSP00000255262:R153H	ENSP00000255262:R153H	R	-	2	0	NMUR2	151764410	0.070000	0.21116	0.918000	0.36340	0.403000	0.30841	0.584000	0.23864	2.502000	0.84385	0.591000	0.81541	CGC		0.637	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		T	151784217	C	T	151784217	3	4	157	1	0	0	0	0	1	0	0	0	10507	768	27	1	805	1	NMUR2	5	151784217	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	110470371	151784217	29131043	15	11059											
DOCK2	1794	broad.mit.edu	37	chr5	169508958	169508958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaagaagacactcacacgGaagaaggtcaatcagttctt	16	7	9	9	1	4	3	3	0	1	3	4	5	4	4	0	2	0	1	0	2	5	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:169508958G>A	ENST00000256935.8	+	51	5480	c.5400G>A	c.(5398-5400)cgG>cgA	p.R1800R	DOCK2_ENST00000520908.1_Silent_p.R1292R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.R861R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1800					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTCACACGGAAGAAGGTCA	0.527																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5398-5400)cgG>cgA		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							112	104	106					5																	169508958		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169508958G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5400G>A	5.37:g.169508958G>A						DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.R1292R|DOCK2_uc003mah.3_Silent_p.R356R	p.R1800R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5480	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1800					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5400G>A	CCDS4371.1																																																																																				0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169508958	G	A	169508958	2	1	157	1	0	0	0	0	0	0	0	1	4687	1161	41	3		3	DOCK2	5	169508958	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	17724741	169508958	11406302	16	11060											
C6orf195	154386	broad.mit.edu	37	chr6	2623743	2623743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcagatggcagggagtgGcctggtcactgttgatcttg	6	13	14	8	0	3	2	2	1	2	1	4	3	3	3	1	4	0	2	1	4	0	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:2623743G>C	ENST00000296847.3	-	3	837	c.314C>G	c.(313-315)gCc>gGc	p.A105G		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	105										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCAGGGAGTGGCCTGGTCACT	0.547																																						uc003mtw.2																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)	5						c.(313-315)gCc>gGc		Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.							61	66	64					6																	2623743		2015	4189	6204	SO:0001583	missense	154386							g.chr6:2623743G>C	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.314C>G	6.37:g.2623743G>C	ENSP00000296847:p.Ala105Gly					C6orf195_uc021ykp.1_Missense_Mutation_p.A105G	p.A105G	NM_152554	NP_689767	Q96MT4	CF195_HUMAN			2	1299	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	105					Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP	ENST00000296847.3	37	c.314C>G	CCDS43416.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597638	0.28445	.	.	ENSG00000164385	ENST00000296847	T	0.38560	1.13	4.07	-1.17	0.09648	.	.	.	.	.	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.33266	-0.9875	9	0.87932	D	0	.	4.039	0.09743	0.4258:0.3628:0.2113:0.0	.	105	Q96MT4	CF195_HUMAN	G	105	ENSP00000296847:A105G	ENSP00000296847:A105G	A	-	2	0	C6orf195	2568742	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	-0.351000	0.07711	-0.180000	0.10637	-0.302000	0.09304	GCC		0.547	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554		C	2623743	G	C	2623743	3	2	157	1	0	0	0	0	1	0	0	0	2350	1203	42	5	73	5	C6orf195	6	2623743	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		2623743	168491324	17	11061											
LRRC1	55227	broad.mit.edu	37	chr6	53784332	53784332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatccctgactgccttgaaGttgaaggctctgtggctatc	7	14	10	10	0	1	3	0	3	1	0	3	3	2	3	2	2	1	3	2	2	4	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:53784332G>C	ENST00000370888.1	+	12	1420	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	381						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGCCTTGAAGTTGAAGGCTC	0.398																																						uc003pcd.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1141-1143)aaG>aaC		Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.							90	81	84					6																	53784332		1922	4135	6057	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53784332G>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1143G>C	6.37:g.53784332G>C	ENSP00000359925:p.Lys381Asn						p.K381N	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	11	1664	+	Lung NSC(77;0.0147)		381					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.1143G>C	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408820	0.11812	.	.	ENSG00000137269	ENST00000370888	T	0.76968	-1.06	5.69	1.91	0.25777	.	0.206543	0.41712	D	0.000825	T	0.28532	0.0706	N	0.13327	0.33	0.80722	D	1	B	0.32245	0.361	B	0.24155	0.051	T	0.43572	-0.9383	10	0.05436	T	0.98	.	7.2111	0.25935	0.2053:0.1228:0.6719:0.0	.	381	Q9BTT6	LRRC1_HUMAN	N	381	ENSP00000359925:K381N	ENSP00000359925:K381N	K	+	3	2	LRRC1	53892291	1.000000	0.71417	0.575000	0.28536	0.996000	0.88848	2.070000	0.41491	0.063000	0.16370	0.655000	0.94253	AAG		0.398	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		C	53784332	G	C	53784332	3	2	157	1	0	0	0	0	1	0	0	0	8966	1020	36	5	1189	5	LRRC1	6	53784332	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	51160589	53784332	117330735	18	11062											
AKD1	221264	broad.mit.edu	37	chr6	109993332	109993332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaccataactcctgattCggtttcagcagcaatctgtt	9	15	7	10	1	2	1	1	1	1	0	4	1	3	1	2	1	4	5	2	1	3	6	rs536856236		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:109993332C>T	ENST00000424296.2	-	4	296	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	AK9_ENST00000368948.2_Missense_Mutation_p.E74K|AK9_ENST00000285397.5_Missense_Mutation_p.E74K|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	74	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ACTCCTGATTCGGTTTCAGCA	0.279													C|||	1	0.000199681	0	0	5008	,	,		20098	0.001		0	False		,,,				2504	0					uc003ptn.2																			0				endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						c.(220-222)Gaa>Aaa		Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.							67	64	65					6																	109993332		2202	4299	6501	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109993332C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.220G>A	6.37:g.109993332C>T	ENSP00000410186:p.Glu74Lys					AKD1_uc003ptr.4_Missense_Mutation_p.E74K|AKD1_uc003pts.2_Non-coding_Transcript	p.E74K	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			3	297	-			74					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.220G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	9.490	1.100551	0.20552	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.7	-1.5	0.08691	ATPase, AAA+ type, core (1);	0.579487	0.19752	N	0.106866	T	0.56455	0.1986	L	0.46614	1.455	0.09310	N	0.999998	B;P	0.40230	0.372;0.708	B;B	0.44278	0.03;0.445	T	0.57929	-0.7726	9	.	.	.	-2.8792	10.4999	0.44800	0.0:0.3078:0.5383:0.1539	.	74;74	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	K	74	ENSP00000410186:E74K;ENSP00000357944:E74K;ENSP00000285397:E74K;ENSP00000436325:E74K	.	E	-	1	0	AKD1	110100025	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.555000	0.05999	-0.204000	0.10235	-0.142000	0.14014	GAA		0.279	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		T	109993332	C	T	109993332	3	4	157	1	0	0	0	0	1	0	0	0	460	893	31	2	5679	2	AKD1	6	109993332	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	56209000	109993332	61121735	19	11063											
VNN1	8876	broad.mit.edu	37	chr6	133005540	133005540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaagacatactgggttccGaaagtgccactgagggagaa	14	6	14	7	1	0	3	0	1	0	2	1	6	1	4	2	3	2	1	2	3	4	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:133005540G>A	ENST00000367928.4	-	6	1306	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	431					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTGGGTTCCGAAAGTGCCAC	0.418																																						uc003qdo.3																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1291-1293)ttC>ttT		Homo sapiens vanin 1 (VNN1), mRNA.							90	85	87					6																	133005540		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133005540G>A	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1293C>T	6.37:g.133005540G>A						VNN1_uc003qdn.3_Non-coding_Transcript	p.F431F	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	5	1313	-	Breast(56;0.135)		431					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.1293C>T	CCDS5159.1																																																																																				0.418	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			A	133005540	G	A	133005540	2	1	157	1	0	0	0	0	0	0	0	1	17179	1049	37	2		2	VNN1	6	133005540	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	23012208	133005540	38109527	20	11064											
C7orf28A	51622	broad.mit.edu	37	chr7	5959509	5959509	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacgttggatttttgcCgaagactggacagcatcgtt	10	11	10	10	3	0	1	0	0	0	1	1	4	0	3	2	2	3	3	2	2	2	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:5959509C>T	ENST00000325974.6	+	12	1084	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	CCZ1_ENST00000537980.1_Nonsense_Mutation_p.R197*	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	340						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						GGATTTTTGCCGAAGACTGGA	0.468																																						uc003spf.3																			0				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(1018-1020)Cga>Tga		Homo sapiens CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) (CCZ1), mRNA.																																				SO:0001587	stop_gained	51622					lysosomal membrane		g.chr7:5959509C>T	AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1018C>T	7.37:g.5959509C>T	ENSP00000325681:p.Arg340*						p.R340*	NM_015622	NP_932765	P86790	CCZ1L_HUMAN			11	1108	+			340					A2RU45|O95766|Q9UG65|Q9Y359	Nonsense_Mutation	SNP	ENST00000325974.6	37	c.1018C>T	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	C	39	7.778327	0.98483	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.95	4.05	0.47172	.	0.137334	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2092	12.9362	0.58316	0.2924:0.7076:0.0:0.0	.	.	.	.	X	340;197	.	ENSP00000325681:R340X	R	+	1	2	CCZ1	5926035	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.420000	0.52735	1.068000	0.40764	0.454000	0.30748	CGA		0.468	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1	NM_015622		T	5959509	C	T	5959509	4	4	157	1	0	0	0	0	0	1	0	0	2383	644	23	2	1064	2	C7orf28A	7	5959509	Nonsense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		5959509	153179154	21	11065											
EGFR	1956	broad.mit.edu	37	chr7	55210077	55210078	+	Missense_Mutation	DNP	GG	GG	AA																															ataactgtgaggtggtccttGggaatttggaaattacctat																										TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:55210077_55210078GG>AA	ENST00000275493.2	+	2	364_365	c.187_188GG>AA	c.(187-189)GGg>AAg	p.G63K	EGFR_ENST00000342916.3_Missense_Mutation_p.G63K|EGFR_ENST00000455089.1_Missense_Mutation_p.G63K|EGFR_ENST00000420316.2_Missense_Mutation_p.G63K|EGFR_ENST00000344576.2_Missense_Mutation_p.G63K|EGFR_ENST00000442591.1_Missense_Mutation_p.G63K|EGFR_ENST00000454757.2_Missense_Mutation_p.G10K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	63			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G63R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGGTCCTTGGGAATTTGGAA	0.396		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.G63R(2)|p.L62R(2)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(187-189)ggg>AAg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210077_55210078GG>AA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	Exception_encountered	7.37:g.55210077_55210078delinsAA	ENSP00000275493:p.Gly63Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.G63K|EGFR_uc003tqi.3_Missense_Mutation_p.G63K|EGFR_uc003tqj.3_Missense_Mutation_p.G63K|EGFR_uc022adm.1_Missense_Mutation_p.G63K|EGFR_uc010kzg.2_Missense_Mutation_p.G63K|EGFR_uc022adn.1_Missense_Mutation_p.G63K|EGFR_uc011kco.2_Missense_Mutation_p.G10K	p.G63K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		1	433_434	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		63					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	DNP	ENST00000275493.2	37	c.187_188GG>AA	CCDS5514.1																																																																																				0.396	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		AA	55210078	GG	AA	55210077	3	1	157	1	0	0	0	0	1	0	0	0	4967	1348	47	3	193	3	EGFR	7	55210077	Missense_Mutation	DNP	GG	TCGA-19-2624-01A-01D-1495-08	49250568	55210077	103928586	22	11066											
STEAP1	26872	broad.mit.edu	37	chr7	89794038	89794038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacaaaactgagatatgttCccagttgtagaattactgtt	14	14	7	6	0	0	2	0	1	0	2	1	3	1	2	1	0	3	4	1	0	7	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:89794038C>A	ENST00000297205.2	+	5	1210	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	337					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGATATGTTCCCAGTTGTAG	0.299																																						uc003ujx.3																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1009-1011)tCc>tAc		Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.							48	47	47					7																	89794038		2202	4299	6501	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89794038C>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.1010C>A	7.37:g.89794038C>A	ENSP00000297205:p.Ser337Tyr					STEAP2_uc003ujy.2_5'Flank	p.S337Y	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			4	1210	+	all_hematologic(106;0.112)		337					A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.1010C>A	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303099	0.40795	.	.	ENSG00000164647	ENST00000297205	T	0.08008	3.14	5.79	3.64	0.41730	.	0.231087	0.31092	N	0.008276	T	0.12092	0.0294	M	0.70595	2.14	0.34334	D	0.687967	P	0.42785	0.79	B	0.39876	0.312	T	0.24154	-1.0168	10	0.87932	D	0	0.1626	11.1798	0.48620	0.0:0.7915:0.1308:0.0776	.	337	Q9UHE8	STEA1_HUMAN	Y	337	ENSP00000297205:S337Y	ENSP00000297205:S337Y	S	+	2	0	STEAP1	89631974	0.892000	0.30473	0.958000	0.39756	0.736000	0.42039	2.006000	0.40874	1.435000	0.47434	0.655000	0.94253	TCC		0.299	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		A	89794038	C	A	89794038	3	1	157	1	0	0	0	0	1	0	0	0	15276	855	30	5	1024	5	STEAP1	7	89794038	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	34583961	89794038	69344625	23	11067											
LHFPL3	375612	broad.mit.edu	37	chr7	104377161	104377161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtatgattttccctgatgGctgggactcagatgaagtaa	10	13	11	7	0	1	4	1	3	0	1	2	5	2	5	1	2	0	3	1	2	3	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:104377161G>C	ENST00000401970.2	+	2	565	c.443G>C	c.(442-444)gGc>gCc	p.G148A	LHFPL3_ENST00000535008.1_Missense_Mutation_p.G162A|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000543266.1_Missense_Mutation_p.G162A|LHFPL3_ENST00000424859.1_Missense_Mutation_p.G148A|LHFPL3-AS1_ENST00000433514.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	162						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TTCCCTGATGGCTGGGACTCA	0.418																																						uc003vce.3																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(484-486)gGc>gCc		Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.							62	59	60					7																	104377161		1916	4140	6056	SO:0001583	missense	375612					integral to membrane		g.chr7:104377161G>C	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.443G>C	7.37:g.104377161G>C	ENSP00000385374:p.Gly148Ala					LHFPL3_uc003vcf.3_Missense_Mutation_p.G162A	p.G162A	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	609	+			148					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.485G>C		.	.	.	.	.	.	.	.	.	.	G	26.2	4.717815	0.89205	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.12	5.12	0.69794	.	0.101366	0.64402	D	0.000002	D	0.90686	0.7078	M	0.91406	3.205	0.80722	D	1	D;D	0.76494	0.981;0.999	D;D	0.74674	0.956;0.984	D	0.92264	0.5819	10	0.87932	D	0	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	162;162	A1L384;A4D0Q5	.;.	A	148;162;148;162	ENSP00000393128:G148A;ENSP00000444350:G162A;ENSP00000385374:G148A;ENSP00000445976:G162A	ENSP00000385374:G148A	G	+	2	0	LHFPL3	104164397	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.601000	0.98297	2.821000	0.97095	0.650000	0.86243	GGC		0.418	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		C	104377161	G	C	104377161	3	2	157	1	0	0	0	0	1	0	0	0	8766	1203	42	5	491	5	LHFPL3	7	104377161	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	14583123	104377161	54761502	24	11068											
DAB2IP	153090	broad.mit.edu	37	chr9	124538504	124538504	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgctgcaggacaagctgCgaatctccaccaagaagctg	11	6	12	12	2	1	1	0	0	1	1	2	3	1	2	2	2	5	4	2	2	4	0			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr9:124538504C>T	ENST00000408936.3	+	14	3330	c.3148C>T	c.(3148-3150)Cga>Tga	p.R1050*	DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.R1022*|DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.R926*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1050					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGACAAGCTGCGAATCTCCAC	0.622																																						uc004bln.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(3064-3066)Cga>Tga		Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.							42	33	36					9																	124538504		2197	4295	6492	SO:0001587	stop_gained	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124538504C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3148C>T	9.37:g.124538504C>T	ENSP00000386183:p.Arg1050*					DAB2IP_uc004blo.3_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.3_Nonsense_Mutation_p.R455*	p.R1022*	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			13	3133	+			1050					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Nonsense_Mutation	SNP	ENST00000408936.3	37	c.3064C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.144957	0.99346	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	.	.	.	4.99	4.99	0.66335	.	0.295381	0.38217	N	0.001778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2888	0.87150	0.0:1.0:0.0:0.0	.	.	.	.	X	1022;1050;959;926	.	ENSP00000259371:R1022X	R	+	1	2	DAB2IP	123578325	1.000000	0.71417	0.984000	0.44739	0.969000	0.65631	3.983000	0.56916	2.305000	0.77605	0.561000	0.74099	CGA		0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		T	124538504	C	T	124538504	4	4	157	1	0	0	0	0	0	1	0	0	4219	760	27	1	3118	1	DAB2IP	9	124538504	Nonsense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		124538504	16674927	25	11069											
ALDH18A1	5832	broad.mit.edu	37	chr10	97396856	97396856	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctctcacctgggcAgcacagatgctgtactgggt	7	8	12	14	0	1	1	1	0	1	1	2	1	1	1	3	2	4	4	3	2	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:97396856A>T	ENST00000371224.2	-	5	689	c.552T>A	c.(550-552)gcT>gcA	p.A184A	ALDH18A1_ENST00000371221.3_Silent_p.A184A|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	184	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCACCTGGGCAGCACAGATGC	0.547																																						uc001kkz.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(550-552)gcT>gcA		Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						53	46	48					10																	97396856		2203	4300	6503	SO:0001819	synonymous_variant	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97396856A>T	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.552T>A	10.37:g.97396856A>T						ALDH18A1_uc001kky.3_Silent_p.A184A|ALDH18A1_uc010qog.2_Silent_p.A73A|ALDH18A1_uc010qoh.2_Intron	p.A184A	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	4	794	-		Colorectal(252;0.0402)	184			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	c.552T>A	CCDS7443.1																																																																																				0.547	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		T	97396856	A	T	97396856	2	4	157	1	0	0	0	0	0	0	0	1	489	175	7	5		5	ALDH18A1	10	97396856	Silent	SNP	A	TCGA-19-2624-01A-01D-1495-08		97396856	38137891	26	11070											
ADAM8	101	broad.mit.edu	37	chr10	135084467	135084467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccggagcagggcgtgccGttctcctggaaggcgtcttc	4	8	14	15	4	2	0	0	0	2	0	4	2	2	2	4	4	2	2	4	4	1	2	rs200740125	byFrequency	TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:135084467G>A	ENST00000445355.3	-	14	1532	c.1482C>T	c.(1480-1482)aaC>aaT	p.N494N	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Silent_p.N455N|ADAM8_ENST00000415217.3_Silent_p.N494N	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	494	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGGCGTGCCGTTCTCCTGGA	0.667													g|||	3	0.000599042	0	0.0014	5008	,	,		18659	0		0.002	False		,,,				2504	0					uc021qbe.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1480-1482)aaC>aaT		Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.			,,	1,4403	2.1+/-5.4	0,1,2201	43	48	46		1482,1482,1365	-6.9	0.8	10		46	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAM8	NM_001109.4,NM_001164489.1,NM_001164490.1	,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,	494/825,494/743,455/734	135084467	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084467G>A	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1482C>T	10.37:g.135084467G>A						ADAM8_uc009ybi.3_Silent_p.N494N|ADAM8_uc010qva.2_Silent_p.N455N	p.N494N	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	13	1568	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	455					B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	ENST00000445355.3	37	c.1482C>T	CCDS31319.2																																																																																				0.667	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		A	135084467	G	A	135084467	2	1	157	1	0	0	0	0	0	0	0	1	252	1136	40	1		1	ADAM8	10	135084467	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	37687611	135084467	450280	27	11071											
C11orf35	256329	broad.mit.edu	37	chr11	558885	558885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagaccaccggtgcGgggtggggcgtggtgtctgg	5	6	21	9	3	1	2	0	0	1	2	1	2	1	2	2	7	2	2	2	7	0	0			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:558885G>A	ENST00000329451.3	-	2	191	c.129C>T	c.(127-129)ccC>ccT	p.P43P	RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000344375.4_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		43										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCGGTGCGGGGTGGGGCG	0.692																																						uc001lpx.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(127-129)ccC>ccT		Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.							34	41	39					11																	558885		2203	4297	6500	SO:0001819	synonymous_variant	256329							g.chr11:558885G>A																												ENST00000329451.3:c.129C>T	11.37:g.558885G>A						AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	p.P43P	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	1	192	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	43						Silent	SNP	ENST00000329451.3	37	c.129C>T	CCDS7701.1																																																																																				0.692	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			A	558885	G	A	558885	2	1	157	1	0	0	0	0	0	0	0	1	1638	1103	39	2		2	C11orf35	11	558885	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08		558885	134447631	28	11072											
OR51E2	81285	broad.mit.edu	37	chr11	4703127	4703127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcacccatgacaacaCgcacaatgggatgaaggctg	14	6	11	10	1	1	3	1	2	0	1	1	4	1	4	1	2	1	2	1	2	3	0	rs138231892		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:4703127C>T	ENST00000396950.3	-	2	1054	c.815G>A	c.(814-816)cGt>cAt	p.R272H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	272					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATGACAACACGCACAATGGG	0.507																																						uc001lzk.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(814-816)cGt>cAt		Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	180	131	148		815	1.3	0.6	11	dbSNP_134	148	0,8596		0,0,4298	yes	missense	OR51E2	NM_030774.3	29	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	272/321	4703127	2,12996	2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703127C>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.815G>A	11.37:g.4703127C>T	ENSP00000380153:p.Arg272His					OR51E2_uc021qcr.1_Missense_Mutation_p.R272H	p.R272H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	1059	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	272					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.815G>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.546775	0.00140	4.54E-4	0.0	ENSG00000167332	ENST00000396950	T	0.00115	8.71	4.97	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.139482	0.32987	N	0.005414	T	0.00039	0.0001	N	0.00166	-1.94	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	10	0.02654	T	1	.	4.5007	0.11863	0.0:0.1826:0.1654:0.6521	.	272	Q9H255	O51E2_HUMAN	H	272	ENSP00000380153:R272H	ENSP00000380153:R272H	R	-	2	0	OR51E2	4659703	0.000000	0.05858	0.642000	0.29436	0.042000	0.13812	-0.122000	0.10627	0.051000	0.15978	-0.302000	0.09304	CGT		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		T	4703127	C	T	4703127	3	4	157	1	0	0	0	0	1	0	0	0	11095	536	19	1	151	1	OR51E2	11	4703127	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	4144242	4703127	130303389	29	11073											
OR52N4	390072	broad.mit.edu	37	chr11	5776764	5776764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccttcttttcccaccGctttggggaacacataatcc	7	14	5	15	1	2	0	0	0	2	0	5	1	4	1	4	2	1	1	4	2	2	6	rs574734485		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:5776764G>A	ENST00000317254.3	+	1	842	c.794G>A	c.(793-795)cGc>cAc	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTTTCCCACCGCTTTGGGGAA	0.468																																						uc001mbu.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(793-795)cGc>cAc		Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.							194	183	187					11																	5776764		1971	4186	6157	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776764G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.794G>A	11.37:g.5776764G>A	ENSP00000323224:p.Arg265His					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.R265H	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	0	842	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.794G>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494430	0.64186	.	.	ENSG00000181074	ENST00000317254	T	0.37235	1.21	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001355	T	0.48892	0.1525	M	0.82823	2.61	0.27867	N	0.94018	B	0.19200	0.034	B	0.26693	0.072	T	0.49437	-0.8940	10	0.66056	D	0.02	.	18.5053	0.90894	0.0:0.0:1.0:0.0	.	265	Q8NGI2	O52N4_HUMAN	H	265	ENSP00000323224:R265H	ENSP00000323224:R265H	R	+	2	0	OR52N4	5733340	0.024000	0.19004	0.742000	0.31022	0.978000	0.69477	1.992000	0.40737	2.705000	0.92388	0.644000	0.83932	CGC		0.468	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		A	5776764	G	A	5776764	3	1	157	1	0	0	0	0	1	0	0	0	11129	1087	38	1	796	1	OR52N4	11	5776764	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	1073637	5776764	129229752	30	11074											
OR8I2	120586	broad.mit.edu	37	chr11	55861299	55861299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgttctgtgattccagCatcaatcattttttttgtga	7	19	8	7	1	3	2	2	2	1	0	4	2	4	2	1	1	1	2	1	1	1	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:55861299C>A	ENST00000302124.2	+	1	547	c.516C>A	c.(514-516)agC>agA	p.S172R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGATTCCAGCATCAATCATT	0.448																																						uc010rix.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(514-516)agC>agA		Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.							163	153	156					11																	55861299		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861299C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.516C>A	11.37:g.55861299C>A	ENSP00000303864:p.Ser172Arg						p.S172R	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			0	516	+	Esophageal squamous(21;0.00693)		172					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.516C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	5.691	0.311977	0.10789	.	.	ENSG00000172154	ENST00000302124	T	0.00099	8.73	4.33	-3.45	0.04781	GPCR, rhodopsin-like superfamily (1);	2.086290	0.02733	N	0.115390	T	0.00073	0.0002	N	0.01091	-1.02	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.43065	-0.9414	10	0.87932	D	0	0.0088	11.9976	0.53212	0.0:0.28:0.0:0.72	.	172	Q8N0Y5	OR8I2_HUMAN	R	172	ENSP00000303864:S172R	ENSP00000303864:S172R	S	+	3	2	OR8I2	55617875	0.000000	0.05858	0.001000	0.08648	0.176000	0.22953	-2.151000	0.01289	-0.749000	0.04747	-0.423000	0.05987	AGC		0.448	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		A	55861299	C	A	55861299	3	1	157	1	0	0	0	0	1	0	0	0	11240	709	25	5	518	5	OR8I2	11	55861299	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	50084535	55861299	79145217	31	11075											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177159	67177159	+	Frame_Shift_Del	DEL	C	C	-																															ctcctgactcgggcccggggCccccccatcgaggggccccc																										TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:67177159delC	ENST00000542590.1	+	9	1289	c.1275delC	c.(1273-1275)ggcfs	p.G425fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000312390.5_Frame_Shift_Del_p.G425fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	425	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCCCGGGGCCCCCCCATCG	0.682																																						uc001ola.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1273-1275)ggcfs		Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.							9	13	11					11																	67177159		1944	3973	5917	SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177159delC	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1275delC	11.37:g.67177159delC	ENSP00000443654:p.Gly425fs					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	p.G425fs	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1304	+			425			Interaction with calcineurin.		G3V1D6	Frame_Shift_Del	DEL	ENST00000542590.1	37	c.1275delC	CCDS8162.1																																																																																				0.682	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		-	67177159	C	-	67177159	7	5	157	1	0	1	0	1	0	0	0	0	15597	726	26	0	1309	0	TBC1D10C	11	67177159	Frame_Shift_Del	DEL	C	TCGA-19-2624-01A-01D-1495-08	11315860	67177159	67829357	32	11076											
ST14	6768	broad.mit.edu	37	chr11	130069857	130069857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcagactgtgggctgCggtcattcacgagacaggct	7	9	13	12	2	3	2	2	0	1	2	3	3	3	2	1	3	2	3	1	3	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:130069857C>T	ENST00000278742.5	+	16	2237	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	607					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTGTGGGCTGCGGTCATTCAC	0.612																																						uc001qfw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1819-1821)Cgg>Tgg		Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	Urokinase(DB00013)						83	80	81					11																	130069857		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130069857C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1819C>T	11.37:g.130069857C>T	ENSP00000278742:p.Arg607Trp						p.R607W	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	15	2012	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	607					Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.1819C>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341752	0.81911	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.93811	-3.29	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.34386	N	0.004008	D	0.96895	0.8986	M	0.83852	2.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	D	0.97267	0.9908	10	0.87932	D	0	.	19.0319	0.92960	0.0:1.0:0.0:0.0	.	607	Q9Y5Y6	ST14_HUMAN	W	607;509	ENSP00000278742:R607W	ENSP00000278742:R607W	R	+	1	2	ST14	129575067	0.993000	0.37304	0.988000	0.46212	0.859000	0.49053	2.364000	0.44187	2.599000	0.87857	0.655000	0.94253	CGG		0.612	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			T	130069857	C	T	130069857	3	4	157	1	0	0	0	0	1	0	0	0	15210	759	27	1	1881	1	ST14	11	130069857	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	62892698	130069857	4936659	33	11077											
FOXJ2	55810	broad.mit.edu	37	chr12	8201337	8201337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgactctttaaaggaaAgcttcaagatggtgaatcgg	14	12	10	5	1	2	3	1	2	1	1	3	4	2	4	0	3	1	1	0	3	6	5			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:8201337A>G	ENST00000162391.3	+	8	2415	c.1270A>G	c.(1270-1272)Agc>Ggc	p.S424G	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S424G	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	424					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTTAAAGGAAAGCTTCAAGAT	0.428																																						uc001qtu.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1270-1272)Agc>Ggc		Homo sapiens forkhead box J2 (FOXJ2), mRNA.							203	200	201					12																	8201337		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8201337A>G	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1270A>G	12.37:g.8201337A>G	ENSP00000162391:p.Ser424Gly					FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G	p.S424G	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2355	+			424					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1270A>G	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535835	0.85812	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.99121	-5.42;-5.45	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	L	0.55743	1.74	0.47407	D	0.999416	P;D	0.71674	0.956;0.998	D;D	0.76071	0.931;0.987	D	0.99850	1.1070	10	0.87932	D	0	.	14.1055	0.65085	1.0:0.0:0.0:0.0	.	424;424	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	G	424	ENSP00000162391:S424G;ENSP00000403411:S424G	ENSP00000162391:S424G	S	+	1	0	FOXJ2	8092604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.042000	0.89430	2.217000	0.71921	0.528000	0.53228	AGC		0.428	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		G	8201337	A	G	8201337	3	3	157	1	0	0	0	0	1	0	0	0	6012	72	3	4	1296	4	FOXJ2	12	8201337	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		8201337	125650558	34	11078											
CACNB3	784	broad.mit.edu	37	chr12	49217552	49217552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtccagggctctggagtcaActttgaggccaaagattttc	10	11	11	9	0	2	2	1	1	1	1	4	3	3	3	2	3	1	1	2	3	2	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:49217552A>G	ENST00000301050.2	+	3	456	c.257A>G	c.(256-258)aAc>aGc	p.N86S	CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000536187.2_Missense_Mutation_p.N85S|CACNB3_ENST00000540990.1_Missense_Mutation_p.N73S|CACNB3_ENST00000547230.1_Intron|CACNB3_ENST00000547392.1_Missense_Mutation_p.N86S	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	86	SH3.				axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTGGAGTCAACTTTGAGGCC	0.493																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(256-258)aAc>aGc		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						110	109	109					12																	49217552		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49217552A>G		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.257A>G	12.37:g.49217552A>G	ENSP00000301050:p.Asn86Ser					CACNB3_uc010slx.2_Missense_Mutation_p.N73S|CACNB3_uc010sly.2_Missense_Mutation_p.N73S|CACNB3_uc010slz.2_Missense_Mutation_p.N85S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Intron	p.N86S	NM_000725	NP_000716	P54284	CACB3_HUMAN			2	716	+			86			SH3.		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.257A>G	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	A	4.683	0.127007	0.08931	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000550190	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.89	4.89	0.63831	Src homology-3 domain (2);	0.046276	0.85682	D	0.000000	T	0.57784	0.2077	N	0.00066	-2.3	0.80722	D	1	D;P;B;P	0.61697	0.99;0.604;0.025;0.956	D;B;B;D	0.72982	0.979;0.218;0.004;0.931	T	0.69101	-0.5234	10	0.02654	T	1	-31.3857	13.6115	0.62080	1.0:0.0:0.0:0.0	.	85;73;73;86	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	S	73;85;86;86;86;37	ENSP00000445495:N73S;ENSP00000444160:N85S;ENSP00000446529:N86S;ENSP00000301050:N86S;ENSP00000449497:N86S;ENSP00000447261:N37S	ENSP00000301050:N86S	N	+	2	0	CACNB3	47503819	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.723000	0.47277	2.064000	0.61679	0.260000	0.18958	AAC		0.493	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			G	49217552	A	G	49217552	3	3	157	1	0	0	0	0	1	0	0	0	2554	43	2	4	267	4	CACNB3	12	49217552	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08	41016215	49217552	84634343	35	11079											
ESPL1	9700	broad.mit.edu	37	chr12	53662942	53662942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgccctaggcatctgggGagcctgctggagctggcaga	6	8	16	11	0	1	1	0	0	1	1	1	3	1	3	2	5	4	5	2	5	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:53662942G>A	ENST00000257934.4	+	3	307	c.216G>A	c.(214-216)ggG>ggA	p.G72G	ESPL1_ENST00000552462.1_Silent_p.G72G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	72					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCATCTGGGGAGCCTGCTGG	0.567																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(214-216)ggG>ggA		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							90	87	88					12																	53662942		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662942G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.216G>A	12.37:g.53662942G>A						ESPL1_uc001scj.2_5'UTR	p.G72G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			2	307	+			72						Silent	SNP	ENST00000257934.4	37	c.216G>A	CCDS8852.1																																																																																				0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53662942	G	A	53662942	2	1	157	1	0	0	0	0	0	0	0	1	5253	1161	41	3		3	ESPL1	12	53662942	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	4445390	53662942	80188953	36	11080											
NEDD1	121441	broad.mit.edu	37	chr12	97345747	97345747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaatgcattctttgctGgaaagatactcagtgaatga	15	12	9	5	0	2	4	1	3	1	1	2	5	2	5	0	1	3	2	0	1	5	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:97345747G>A	ENST00000266742.4	+	16	2238	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	NEDD1_ENST00000457368.2_Silent_p.L544L|NEDD1_ENST00000429527.2_Silent_p.L633L|NEDD1_ENST00000411739.2_Silent_p.L544L|NEDD1_ENST00000557644.1_Silent_p.L640L	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	633					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTCTTTGCTGGAAAGATACT	0.323																																						uc001tew.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(1918-1920)ctG>ctA		Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.							76	77	77					12																	97345747		2203	4300	6503	SO:0001819	synonymous_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97345747G>A		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1899G>A	12.37:g.97345747G>A						NEDD1_uc001teu.4_Silent_p.L633L|NEDD1_uc001tev.4_Silent_p.L633L|NEDD1_uc010svc.2_Silent_p.L544L|NEDD1_uc001tex.3_Silent_p.L544L	p.L640L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN			14	2066	+			633					B0AZN0|B4E145|G3V3F1|Q8NA30	Silent	SNP	ENST00000266742.4	37	c.1920G>A	CCDS9063.1																																																																																				0.323	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			A	97345747	G	A	97345747	2	1	157	1	0	0	0	0	0	0	0	1	10309	1335	47	3		3	NEDD1	12	97345747	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	43682805	97345747	36506148	37	11081											
ATXN2	6311	broad.mit.edu	37	chr12	111895056	111895056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgacttccaccatgttGgctttgctgctgtccagtgg	6	13	12	10	0	0	1	0	1	0	0	2	2	2	2	3	3	2	4	3	3	0	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:111895056G>A	ENST00000377617.3	-	22	3639	c.3478C>T	c.(3478-3480)Caa>Taa	p.Q1160*	ATXN2_ENST00000535949.1_Nonsense_Mutation_p.Q853*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.Q1000*|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.Q897*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.Q895*|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1160					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCACCATGTTGGCTTTGCTGC	0.552																																						uc001tsj.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3478-3480)Caa>Taa		Homo sapiens ataxin 2 (ATXN2), mRNA.							217	155	176					12																	111895056		2203	4300	6503	SO:0001587	stop_gained	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895056G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3478C>T	12.37:g.111895056G>A	ENSP00000366843:p.Gln1160*					ATXN2_uc001tsh.3_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.3_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161*	p.Q1160*	NM_002973	NP_002964	Q99700	ATX2_HUMAN			21	3640	-			1160					A6NLD4|Q6ZQZ7|Q99493	Nonsense_Mutation	SNP	ENST00000377617.3	37	c.3478C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	42	9.579803	0.99210	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-7.703	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	215;897;1160;161;895;853;85	.	ENSP00000366843:Q1160X	Q	-	1	0	ATXN2	110379439	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.829000	0.92055	2.879000	0.98667	0.650000	0.86243	CAA		0.552	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		A	111895056	G	A	111895056	4	1	157	1	0	0	0	0	0	1	0	0	1211	1357	47	3	479	3	ATXN2	12	111895056	Nonsense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	14549309	111895056	21956839	38	11082											
FZD10	11211	broad.mit.edu	37	chr12	130648665	130648665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcatggacgtcaacgCgctcaccggcttcgtgctca	7	7	13	14	5	3	0	3	0	0	0	4	1	3	1	1	3	3	5	1	3	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:130648665C>T	ENST00000229030.4	+	1	1662	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	FZD10_ENST00000539839.1_Silent_p.R360R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	393					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GACGTCAACGCGCTCACCGGC	0.657																																						uc001uii.3																			0		p.A393S(1)|p.N392K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1177-1179)gCg>gTg		Homo sapiens frizzled family receptor 10 (FZD10), mRNA.							117	106	110					12																	130648665		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648665C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1178C>T	12.37:g.130648665C>T	ENSP00000229030:p.Ala393Val					FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	p.A393V	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	0	1662	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		393						Missense_Mutation	SNP	ENST00000229030.4	37	c.1178C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014380	0.93404	.	.	ENSG00000111432	ENST00000229030	D	0.82526	-1.62	5.21	5.21	0.72293	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.90386	0.6991	M	0.87456	2.885	0.80722	D	1	D	0.59767	0.986	P	0.55222	0.771	D	0.91076	0.4896	10	0.46703	T	0.11	.	18.7539	0.91825	0.0:1.0:0.0:0.0	.	393	Q9ULW2	FZD10_HUMAN	V	393	ENSP00000229030:A393V	ENSP00000229030:A393V	A	+	2	0	FZD10	129214618	1.000000	0.71417	0.230000	0.23976	0.975000	0.68041	7.644000	0.83416	2.432000	0.82394	0.561000	0.74099	GCG		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	130648665	C	T	130648665	3	4	157	1	0	0	0	0	1	0	0	0	6129	768	27	1	1180	1	FZD10	12	130648665	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	18753609	130648665	3203230	39	11083											
CYP46A1	10858	broad.mit.edu	37	chr14	100166408	100166408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgctggcacaagcagcGgagagtcatagacctggcct	10	6	14	11	2	1	3	1	1	0	2	1	4	1	3	2	3	3	3	2	3	2	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:100166408G>A	ENST00000261835.3	+	5	517	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R41Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	138					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CACAAGCAGCGGAGAGTCATA	0.627																																						uc001ygo.3																			0		p.Q137Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(412-414)cGg>cAg		Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.							74	63	67					14																	100166408		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166408G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.413G>A	14.37:g.100166408G>A	ENSP00000261835:p.Arg138Gln					CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q	p.R138Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			4	413	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	138					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.413G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790642	0.90367	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	D;D	0.92752	-2.03;-3.1	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	M	0.77486	2.375	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.95778	0.8814	10	0.87932	D	0	.	14.1712	0.65510	0.0:0.0:1.0:0.0	.	138;109	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	Q	138;41	ENSP00000261835:R138Q;ENSP00000405779:R41Q	ENSP00000261835:R138Q	R	+	2	0	CYP46A1	99236161	1.000000	0.71417	0.954000	0.39281	0.930000	0.56654	5.110000	0.64622	2.618000	0.88619	0.655000	0.94253	CGG		0.627	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			A	100166408	G	A	100166408	3	1	157	1	0	0	0	0	1	0	0	0	4182	1116	39	2	431	2	CYP46A1	14	100166408	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		100166408	7183132	40	11084											
AHNAK2	113146	broad.mit.edu	37	chr14	105410901	105410901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttggcagtcacgtcCttgtcagccagggacaggtc	6	11	12	12	1	3	0	2	0	1	0	5	1	4	1	2	3	1	1	2	3	0	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105410901C>A	ENST00000333244.5	-	7	11006	c.10887G>T	c.(10885-10887)aaG>aaT	p.K3629N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3629						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACGTCCTTGTCAGCCA	0.597																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10885-10887)aaG>aaT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							168	180	176					14																	105410901		2030	4189	6219	SO:0001583	missense	113146					nucleus		g.chr14:105410901C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10887G>T	14.37:g.105410901C>A	ENSP00000353114:p.Lys3629Asn					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N	p.K3629N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11007	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3629					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10887G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.521475	0.44866	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.89	2.02	0.26589	.	.	.	.	.	T	0.03220	0.0094	M	0.85945	2.785	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.39563	-0.9608	9	0.16896	T	0.51	.	5.9028	0.18976	0.0:0.568:0.0:0.432	.	3629	Q8IVF2	AHNK2_HUMAN	N	3629	ENSP00000353114:K3629N	ENSP00000353114:K3629N	K	-	3	2	AHNAK2	104481946	0.297000	0.24408	0.102000	0.21198	0.055000	0.15305	-0.022000	0.12480	0.158000	0.19367	0.491000	0.48974	AAG		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105410901	C	A	105410901	3	1	157	1	0	0	0	0	1	0	0	0	415	680	24	5	6504	5	AHNAK2	14	105410901	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	5244493	105410901	1938639	41	11085											
AHNAK2	113146	broad.mit.edu	37	chr14	105418389	105418389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttggctcccggggcctcGacgtccacctccacgctggg	4	7	13	17	4	0	0	0	0	0	0	4	1	3	0	5	4	1	3	5	4	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105418389G>A	ENST00000333244.5	-	7	3518	c.3399C>T	c.(3397-3399)gtC>gtT	p.V1133V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1133						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGGGCCTCGACGTCCACCT	0.632																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3397-3399)gtC>gtT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							131	155	148					14																	105418389		1946	4143	6089	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418389G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3399C>T	14.37:g.105418389G>A						AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1033V	p.V1133V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	3519	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1133					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3399C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105418389	G	A	105418389	2	1	157	1	0	0	0	0	0	0	0	1	415	1045	37	2		2	AHNAK2	14	105418389	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	7488	105418389	1931151	42	11086											
DUOX2	50506	broad.mit.edu	37	chr15	45393418	45393418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgctccccaggtgtcCgagtgatgaacgagactcga	9	7	11	14	4	1	3	1	2	0	1	4	6	3	3	4	1	1	1	4	1	1	0	rs146664125		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:45393418C>T	ENST00000603300.1	-	22	3108	c.2906G>A	c.(2905-2907)cGg>cAg	p.R969Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R969Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	969	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCCAGGTGTCCGAGTGATGAA	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		20000	0		0	False		,,,				2504	0					uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(2905-2907)cGg>cAg		Homo sapiens dual oxidase 2 (DUOX2), mRNA.		C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	43	44	44		2906	2	1	15	dbSNP_134	44	12,8584	8.4+/-32.0	0,12,4286	yes	missense	DUOX2	NM_014080.4	43	0,13,6483	TT,TC,CC		0.1396,0.0227,0.1001	benign	969/1549	45393418	13,12979	2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45393418C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2906G>A	15.37:g.45393418C>T	ENSP00000475084:p.Arg969Gln					DUOX2_uc010bea.3_Missense_Mutation_p.R969Q	p.R969Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	21	3109	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	969			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2906G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165525	0.21538	2.27E-4	0.001396	ENSG00000140279	ENST00000389039	.	.	.	4.91	2.03	0.26663	.	0.765681	0.12472	N	0.465936	T	0.28067	0.0692	L	0.34521	1.04	0.19945	N	0.999943	B	0.06786	0.001	B	0.04013	0.001	T	0.17440	-1.0369	9	0.27082	T	0.32	-13.6793	6.4602	0.21952	0.0:0.7069:0.0:0.2931	.	969	Q9NRD8	DUOX2_HUMAN	Q	969	.	ENSP00000373691:R969Q	R	-	2	0	DUOX2	43180710	0.115000	0.22152	0.966000	0.40874	0.648000	0.38561	0.462000	0.21956	0.780000	0.33566	0.609000	0.83330	CGG		0.547	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45393418	C	T	45393418	3	4	157	1	0	0	0	0	1	0	0	0	4801	652	23	2	1792	2	DUOX2	15	45393418	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		45393418	57137974	43	11087											
CCPG1	9236	broad.mit.edu	37	chr15	55652558	55652559	+	Frame_Shift_Ins	INS	-	-	C																															tagccctgtggcttcctctgINSccccctttcttttttccatc																										TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:55652558_55652559insC	ENST00000310958.6	-	8	1710_1711	c.1412_1413insG	c.(1411-1413)ggcfs	p.G471fs	CCPG1_ENST00000442196.3_Frame_Shift_Ins_p.G471fs|CCPG1_ENST00000569205.1_Frame_Shift_Ins_p.G471fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	471					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGCTTCCTCTGCCCCCTTTCTT	0.391																																						uc010bfk.2																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1411-1413)ggcfs		Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55652558_55652559insC	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1413dupG	15.37:g.55652563_55652563dupC	ENSP00000311656:p.Gly471fs					CCPG1_uc002acy.3_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.G91fs	p.G471fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	1711_1712	-			471					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Ins	INS	ENST00000310958.6	37	c.1412_1413insG	CCDS42039.1																																																																																				0.391	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		C	55652559	-	C	55652558	7	5	157	1	0	1	1	0	0	0	0	0	2938	1306	46	0	864	0	CCPG1	15	55652558	Frame_Shift_Ins	INS	-	TCGA-19-2624-01A-01D-1495-08	10259140	55652558	46878834	44	11088											
GFOD2	81577	broad.mit.edu	37	chr16	67709764	67709764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgcctgagtagatgCgggcatcacagatcatcacc	10	7	12	12	1	3	3	3	1	0	2	3	3	3	3	2	2	2	4	2	2	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:67709764C>T	ENST00000268797.7	-	3	797	c.452G>A	c.(451-453)cGc>cAc	p.R151H	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	151					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAGTAGATGCGGGCATCACA	0.592																																						uc002eub.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(451-453)cGc>cAc		Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.							81	73	76					16																	67709764		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709764C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.452G>A	16.37:g.67709764C>T	ENSP00000268797:p.Arg151His					GFOD2_uc002euc.3_Missense_Mutation_p.R46H|GFOD2_uc002eua.1_Non-coding_Transcript	p.R151H	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	2	747	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	151					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.452G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973844	0.74246	.	.	ENSG00000141098	ENST00000268797	T	0.43294	0.95	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.56769	1.78	0.80722	D	1	P	0.51351	0.944	P	0.46917	0.531	T	0.44498	-0.9324	10	0.34782	T	0.22	-20.5	18.2572	0.90023	0.0:1.0:0.0:0.0	.	151	Q3B7J2	GFOD2_HUMAN	H	151	ENSP00000268797:R151H	ENSP00000268797:R151H	R	-	2	0	GFOD2	66267265	0.998000	0.40836	0.989000	0.46669	0.508000	0.34012	3.974000	0.56852	2.475000	0.83589	0.557000	0.71058	CGC		0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		T	67709764	C	T	67709764	3	4	157	1	0	0	0	0	1	0	0	0	6344	768	27	1	709	1	GFOD2	16	67709764	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		67709764	22644989	45	11089											
CBFA2T3	863	broad.mit.edu	37	chr16	88945788	88945788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctccgtggtgatgagctCgtgcgctttgcgctccgcgt	3	11	14	13	7	0	2	0	2	0	0	3	2	2	2	2	1	3	4	2	1	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:88945788C>T	ENST00000268679.4	-	11	1948	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E432K|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E442K|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E480K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E432K	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	518			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E518K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGATGAGCTCGTGCGCTTTG	0.657			T	RUNX1	AML																																	uc002fmm.2				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		1	Substitution - Missense(1)	p.E518K(2)|p.H517H(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1552-1554)Gag>Aag		Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.							81	70	73					16																	88945788		2198	4298	6496	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945788C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1552G>A	16.37:g.88945788C>T	ENSP00000268679:p.Glu518Lys					CBFA2T3_uc002fml.2_Missense_Mutation_p.E432K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E17K	p.E518K	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	10	1841	-			518		E -> K (in a colorectal cancer sample; somatic mutation).			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1552G>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166906	0.94768	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.7	4.7	0.59300	.	0.116434	0.56097	D	0.000024	T	0.64702	0.2622	M	0.82323	2.585	0.80722	D	1	D;D	0.63046	0.992;0.987	P;P	0.59012	0.812;0.85	T	0.72880	-0.4158	10	0.87932	D	0	-2.3526	17.6401	0.88133	0.0:1.0:0.0:0.0	.	518;432	O75081;O75081-2	MTG16_HUMAN;.	K	432;518;480;442;432	ENSP00000332122:E432K;ENSP00000268679:E518K;ENSP00000395739:E480K;ENSP00000401254:E442K;ENSP00000353449:E432K	ENSP00000268679:E518K	E	-	1	0	CBFA2T3	87473289	1.000000	0.71417	0.912000	0.35992	0.434000	0.31775	7.536000	0.82023	2.145000	0.66743	0.462000	0.41574	GAG		0.657	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		T	88945788	C	T	88945788	3	4	157	1	0	0	0	0	1	0	0	0	2698	893	31	2	417	2	CBFA2T3	16	88945788	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	21236024	88945788	1408965	46	11090											
GPR179	440435	broad.mit.edu	37	chr17	36499303	36499303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtaccattccacatcctcctCcacactggactcacggatgt	9	10	6	16	1	1	0	1	0	0	0	5	2	5	2	5	2	1	1	5	2	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr17:36499303C>G	ENST00000342292.4	-	1	390	c.370G>C	c.(370-372)Gag>Cag	p.E124Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	124					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACATCCTCCTCCACACTGGAC	0.627																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(370-372)Gag>Cag		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							46	46	46					17																	36499303		2139	4252	6391	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499303C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.370G>C	17.37:g.36499303C>G	ENSP00000345060:p.Glu124Gln						p.E124Q	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			0	391	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	124						Missense_Mutation	SNP	ENST00000342292.4	37	c.370G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314671	0.60524	.	.	ENSG00000188888	ENST00000342292	T	0.79033	-1.23	5.14	5.14	0.70334	.	0.067944	0.56097	D	0.000032	T	0.65417	0.2689	L	0.39898	1.24	0.27372	N	0.95567	P	0.43431	0.807	B	0.39217	0.294	T	0.60414	-0.7268	10	0.27082	T	0.32	-17.9939	7.9078	0.29771	0.0:0.8317:0.0:0.1683	.	124	Q6PRD1	GP179_HUMAN	Q	124	ENSP00000345060:E124Q	ENSP00000345060:E124Q	E	-	1	0	GPR179	33752829	0.932000	0.31603	1.000000	0.80357	0.994000	0.84299	1.162000	0.31786	2.837000	0.97791	0.655000	0.94253	GAG		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			G	36499303	C	G	36499303	3	3	157	1	0	0	0	0	1	0	0	0	6674	864	30	5	6777	5	GPR179	17	36499303	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		36499303	44695907	47	11091											
C18orf45	85019	broad.mit.edu	37	chr18	20889650	20889650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaagacttaccatcccGtggttgcactggtcaggatc	10	10	10	11	1	1	1	1	0	0	1	3	2	2	2	2	3	3	3	2	3	3	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr18:20889650G>A	ENST00000383233.3	-	14	876	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.T154M|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	275						integral component of membrane (GO:0016021)											TTACCATCCCGTGGTTGCACT	0.403																																						uc002kuf.3																			0											c.(823-825)aCg>aTg		Homo sapiens transmembrane protein 241 (TMEM241), mRNA.							143	133	136					18																	20889650		1941	4143	6084	SO:0001583	missense	85019					integral to membrane		g.chr18:20889650G>A	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.824C>T	18.37:g.20889650G>A	ENSP00000372720:p.Thr275Met					TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	p.T275M	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			13	933	-			275					I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	c.824C>T	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	G	2.424	-0.332352	0.05314	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.68903	0.93;-0.36	4.44	0.547	0.17202	.	.	.	.	.	T	0.45054	0.1323	N	0.14661	0.345	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.19063	-1.0317	9	0.35671	T	0.21	-12.9142	9.1839	0.37158	0.9023:0.0:0.0977:0.0	.	275	Q24JQ0	CR045_HUMAN	M	154;275	ENSP00000414899:T154M;ENSP00000372720:T275M	ENSP00000372720:T275M	T	-	2	0	C18orf45	19143648	0.800000	0.28916	0.428000	0.26697	0.018000	0.09664	1.363000	0.34159	0.285000	0.22329	-1.417000	0.01113	ACG		0.403	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		A	20889650	G	A	20889650	3	1	157	1	0	0	0	0	1	0	0	0	1903	1145	40	1	74	1	C18orf45	18	20889650	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		20889650	57187598	48	11092											
MIER2	54531	broad.mit.edu	37	chr19	307371	307371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagtgacagctggctggTatgaggctgggtcggccagg	7	7	19	8	1	0	2	0	2	0	0	1	3	0	2	1	6	2	5	1	6	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:307371T>C	ENST00000264819.4	-	13	1374	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGCTGGTATGAGGCTGG	0.687																																						uc002lok.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1363-1365)tAc>tGc		Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.							15	16	16					19																	307371		2199	4298	6497	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:307371T>C	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1364A>G	19.37:g.307371T>C	ENSP00000264819:p.Tyr455Cys						p.Y455C	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1373	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	455					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.1364A>G	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	T	6.402	0.442314	0.12164	.	.	ENSG00000105556	ENST00000264819	T	0.22539	1.95	3.66	-1.95	0.07548	.	1.412380	0.04861	N	0.444155	T	0.14787	0.0357	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.32134	-0.9918	10	0.59425	D	0.04	-6.0952	3.0293	0.06102	0.4065:0.1943:0.0:0.3992	.	455	Q8N344	MIER2_HUMAN	C	455	ENSP00000264819:Y455C	ENSP00000264819:Y455C	Y	-	2	0	MIER2	258371	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.470000	0.06639	-0.695000	0.05105	-0.371000	0.07208	TAC		0.687	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		C	307371	T	C	307371	3	2	157	1	0	0	0	0	1	0	0	0	9581	1638	57	4	281	4	MIER2	19	307371	Missense_Mutation	SNP	T	TCGA-19-2624-01A-01D-1495-08		307371	58821612	49	11093											
CHAF1A	10036	broad.mit.edu	37	chr19	4409704	4409704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggccgcctgctccccCaaagcagcacagcagtacca	10	3	11	17	2	0	0	0	0	0	0	1	1	1	0	5	2	5	5	5	2	2	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:4409704C>A	ENST00000301280.5	+	3	1009	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	303	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTCCCCCAAAGCAGCAC	0.612								Chromatin Structure																														uc002mal.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(907-909)cCa>cAa	Chromatin Structure	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.							80	71	74					19																	4409704		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409704C>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.908C>A	19.37:g.4409704C>A	ENSP00000301280:p.Pro303Gln						p.P303Q	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1008	+		Hepatocellular(1079;0.137)	303			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.908C>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766852	0.31320	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.20881	2.04	5.78	-7.63	0.01290	.	.	.	.	.	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39210	-0.9625	9	0.87932	D	0	10.1966	9.1843	0.37160	0.1895:0.4752:0.3353:0.0	.	303	Q13111	CAF1A_HUMAN	Q	303	ENSP00000301280:P303Q	ENSP00000301280:P303Q	P	+	2	0	CHAF1A	4360704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.128000	0.10531	-1.870000	0.01139	-0.340000	0.08031	CCA		0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		A	4409704	C	A	4409704	3	1	157	1	0	0	0	0	1	0	0	0	3311	594	21	5	918	5	CHAF1A	19	4409704	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	4102333	4409704	54719279	50	11094											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913972	39913972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggattcccagatgagctgGcattccgctcttgctcagaa	9	10	11	11	1	2	3	1	1	1	2	4	4	4	4	2	2	2	4	2	2	1	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:39913972G>A	ENST00000409794.3	+	18	3128	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.A731T|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.A701T|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	760					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATGAGCTGGCATTCCGCTC	0.597																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2278-2280)Gca>Aca		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							40	45	43					19																	39913972		2203	4299	6502	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913972G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2278G>A	19.37:g.39913972G>A	ENSP00000386733:p.Ala760Thr					PLEKHG2_uc010xuy.2_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.A538T	p.A760T	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	2603	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		760					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2278G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.94|11.94	1.789312|1.789312	0.31685|0.31685	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.70045|.	-0.31;-0.31;-0.45|.	5.35|5.35	3.15|3.15	0.36227|0.36227	.|.	1.111920|.	0.06862|.	N|.	0.799319|.	T|.	0.39600|.	0.1084|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.29716|.	0.187;0.067;0.255|.	B;B;B|.	0.26969|.	0.075;0.034;0.071|.	T|.	0.11203|.	-1.0597|.	10|.	0.49607|.	T|.	0.09|.	.|.	12.4308|12.4308	0.55573|0.55573	0.0:0.3243:0.6757:0.0|0.0:0.3243:0.6757:0.0	.|.	731;760;701|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	T|X	760;731;701|627	ENSP00000386733:A760T;ENSP00000392906:A731T;ENSP00000408857:A701T|.	ENSP00000386733:A760T|.	A|W	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44605812|44605812	0.393000|0.393000	0.25237|0.25237	0.916000|0.916000	0.36221|0.36221	0.140000|0.140000	0.21249|0.21249	0.947000|0.947000	0.29082|0.29082	0.707000|0.707000	0.31934|0.31934	0.561000|0.561000	0.74099|0.74099	GCA|TGG		0.597	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39913972	G	A	39913972	3	1	157	1	0	0	0	0	1	0	0	0	12069	1203	42	3	2344	3	PLEKHG2	19	39913972	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	35504268	39913972	19215011	51	11095											
TGM3	7053	broad.mit.edu	37	chr20	2320632	2320632	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgggtaacctgaagatcGagtgagtcctgggcctaagt	9	11	14	7	1	0	3	0	2	0	1	2	4	1	3	3	2	1	2	3	2	3	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:2320632G>A	ENST00000381458.5	+	12	1996	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	645					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCTGAAGATCGAGTGAGTCCT	0.642																																						uc002wfx.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.e12+1		Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	L-Glutamine(DB00130)						77	54	62					20																	2320632		2203	4300	6503	SO:0001630	splice_region_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2320632G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1934+1G>A	20.37:g.2320632G>A							p.D645_splice	NM_003245	NP_003236	Q08188	TGM3_HUMAN			12	2031	+			645					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1934_splice	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433794	0.12045	.	.	ENSG00000125780	ENST00000381458	T	0.68181	-0.31	5.26	3.28	0.37604	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.071550	0.07151	N	0.849146	T	0.48502	0.1503	L	0.32530	0.975	0.33331	D	0.56856	P	0.37997	0.614	B	0.28139	0.086	T	0.48210	-0.9055	10	0.09590	T	0.72	-1.7848	8.6708	0.34149	0.1828:0.0:0.8172:0.0	.	645	Q08188	TGM3_HUMAN	N	645	ENSP00000370867:D645N	ENSP00000370867:D645N	D	+	1	0	TGM3	2268632	0.959000	0.32827	0.947000	0.38551	0.327000	0.28475	1.545000	0.36169	1.208000	0.43306	0.561000	0.74099	GAC		0.642	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	Missense_Mutation	A	2320632	G	A	2320632	5	1	157	1	0	0	0	0	0	0	1	0	15828	1072	37	2	1979	2	TGM3	20	2320632	Splice_Site	SNP	G	TCGA-19-2624-01A-01D-1495-08		2320632	60704888	52	11096											
SEMG1	6406	broad.mit.edu	37	chr20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtaaagaacaaacttccGtctctggtgcacaaaaaggt	16	9	8	8	1	1	1	0	0	1	1	3	1	2	1	1	2	3	2	1	2	7	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	178	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							81	76	78					20																	43836470		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836470G>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.532G>A	20.37:g.43836470G>A	ENSP00000361867:p.Val178Ile					SEMG2_uc002xni.2_Missense_Mutation_p.V178I|SEMG2_uc002xnj.2_Missense_Mutation_p.V178I		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146628	0.09134	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08102	3.13;3.13	1.02	-2.04	0.07343	.	.	.	.	.	T	0.10895	0.0266	L	0.57536	1.79	0.09310	N	1	P;B;D	0.53745	0.941;0.14;0.962	B;B;P	0.48770	0.304;0.062;0.589	T	0.19257	-1.0311	9	0.28530	T	0.3	.	6.5467	0.22410	0.0:0.3717:0.6283:0.0	.	178;178;178	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	I	178	ENSP00000244069:V178I;ENSP00000361867:V178I	ENSP00000244069:V178I	V	+	1	0	SEMG1	43269884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.602000	0.05680	-0.657000	0.05373	-0.357000	0.07601	GTC		0.423	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		A	43836470	G	A	43836470	3	1	157	1	0	0	0	0	1	0	0	0	14044	1145	40	1	538	1	SEMG1	20	43836470	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	41515838	43836470	19189050	53	11097											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986055	31986055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatagccatagccacAgagggagcgggagccatagc	12	4	13	12	1	0	1	0	0	0	1	1	3	1	3	4	2	5	1	4	2	3	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr21:31986055A>T	ENST00000329122.2	-	1	194	c.169T>A	c.(169-171)Tgt>Agt	p.C57S	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	57						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						CCATAGCCACAGAGGGAGCGG	0.567																																						uc002yop.3																			0				breast(2)|endometrium(1)|lung(7)	10						c.(169-171)Tgt>Agt		Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.							103	109	107					21																	31986055		2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986055A>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.169T>A	21.37:g.31986055A>T	ENSP00000332690:p.Cys57Ser					KRTAP20-1_uc011ade.2_5'Flank	p.C57S	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			0	169	-			57						Missense_Mutation	SNP	ENST00000329122.2	37	c.169T>A	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	A	6.781	0.512996	0.12944	.	.	ENSG00000184724	ENST00000329122	T	0.17854	2.25	4.1	1.49	0.22878	.	0.388604	0.18562	U	0.137595	T	0.11623	0.0283	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.21552	-1.0242	9	0.87932	D	0	.	5.4794	0.16715	0.7243:0.1741:0.1016:0.0	.	57	Q3LI64	KRA61_HUMAN	S	57	ENSP00000332690:C57S	ENSP00000332690:C57S	C	-	1	0	KRTAP6-1	30907926	0.927000	0.31430	0.561000	0.28357	0.481000	0.33189	1.849000	0.39318	0.742000	0.32697	0.472000	0.43445	TGT		0.567	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		T	31986055	A	T	31986055	3	4	157	1	0	0	0	0	1	0	0	0	8569	188	7	5	50	5	KRTAP6-1	21	31986055	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		31986055	16143840	54	11098											
MYH9	4627	broad.mit.edu	37	chr22	36689392	36689392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgggcatggagggtggCgatctgcttctccaggttgt	6	11	15	9	1	2	0	0	0	2	0	3	2	2	1	2	5	2	3	2	5	1	2	rs569649580		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr22:36689392C>T	ENST00000216181.5	-	30	4308	c.4078G>A	c.(4078-4080)Gcc>Acc	p.A1360T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1360					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGAGGGTGGCGATCTGCTTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4078-4080)Gcc>Acc		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.							73	73	73					22																	36689392		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689392C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4078G>A	22.37:g.36689392C>T	ENSP00000216181:p.Ala1360Thr						p.A1360T	NM_002473	NP_002464	P35579	MYH9_HUMAN			29	4309	-			1360					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4078G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.016950	0.19355	.	.	ENSG00000100345	ENST00000216181	T	0.78924	-1.22	5.27	-1.05	0.10036	Myosin tail (1);	0.855692	0.10532	N	0.663684	T	0.57330	0.2046	N	0.12569	0.235	0.24098	N	0.995885	B	0.02656	0.0	B	0.08055	0.003	T	0.49835	-0.8897	10	0.87932	D	0	.	6.6576	0.22996	0.5714:0.2754:0.0:0.1532	.	1360	P35579	MYH9_HUMAN	T	1360	ENSP00000216181:A1360T	ENSP00000216181:A1360T	A	-	1	0	MYH9	35019338	0.000000	0.05858	0.358000	0.25811	0.960000	0.62799	0.015000	0.13355	0.034000	0.15491	-0.500000	0.04577	GCC		0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36689392	C	T	36689392	3	4	157	1	0	0	0	0	1	0	0	0	10042	768	27	1	1852	1	MYH9	22	36689392	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		36689392	14615174	55	11099											
MAGEB18	286514	broad.mit.edu	37	chrX	26157310	26157310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcagggagccccatccAccaccaatgctattgcacct	9	8	7	17	1	1	0	1	0	0	0	2	1	2	1	6	1	3	3	6	1	2	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chrX:26157310A>G	ENST00000325250.1	+	2	395	c.208A>G	c.(208-210)Acc>Gcc	p.T70A		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	70						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCCCATCCACCACCAATGC	0.532																																						uc022bub.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(208-210)Acc>Gcc		Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.							44	38	40					X																	26157310		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157310A>G	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.208A>G	X.37:g.26157310A>G	ENSP00000314543:p.Thr70Ala					MAGEB18_uc004dbq.2_Missense_Mutation_p.T70A	p.T70A	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			0	208	+			70						Missense_Mutation	SNP	ENST00000325250.1	37	c.208A>G	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243317	0.22796	.	.	ENSG00000176774	ENST00000325250	T	0.05139	3.49	3.97	-2.91	0.05631	Melanoma associated antigen, MAGE, N-terminal (1);	74.368000	0.00541	N	0.000234	T	0.05868	0.0153	L	0.42686	1.345	0.09310	N	1	B	0.26935	0.164	B	0.25884	0.064	T	0.30650	-0.9971	10	0.35671	T	0.21	.	1.1596	0.01803	0.3015:0.1724:0.3552:0.171	.	70	Q96M61	MAGBI_HUMAN	A	70	ENSP00000314543:T70A	ENSP00000314543:T70A	T	+	1	0	MAGEB18	26067231	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.122000	0.10627	-0.739000	0.04809	0.486000	0.48141	ACC		0.532	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		G	26157310	A	G	26157310	3	3	157	1	0	0	0	0	1	0	0	0	9175	159	6	4	210	4	MAGEB18	23	26157310	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		26157310	129113250	56	11100											
SPOCD1	90853	broad.mit.edu	37	chr1	32280067	32280067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcccatcccctgtagCgggcaaatatccaaatttct	9	10	9	13	1	1	0	0	0	1	0	3	0	3	0	4	3	1	2	4	3	4	3	rs555926182		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:32280067C>T	ENST00000360482.2	-	2	997	c.868G>A	c.(868-870)Gct>Act	p.A290T	SPOCD1_ENST00000373648.2_Missense_Mutation_p.A290T|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A290T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	290					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCCCTGTAGCGGGCAAATAT	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		18224	0		0	False		,,,				2504	0					uc001bts.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(868-870)Gct>Act		Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.							17	20	19					1																	32280067		2199	4288	6487	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280067C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.868G>A	1.37:g.32280067C>T	ENSP00000353670:p.Ala290Thr					SPOCD1_uc001btu.3_Missense_Mutation_p.A290T|SPOCD1_uc001btv.3_Intron	p.A290T	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	1	926	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	290					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.868G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241289	0.01493	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.33438	1.84;1.41;1.84	3.88	-7.76	0.01232	.	.	.	.	.	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.20907	-1.0261	9	0.07175	T	0.84	0.1298	1.6672	0.02804	0.202:0.3041:0.1011:0.3928	.	290;290	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	290	ENSP00000353670:A290T;ENSP00000362752:A290T;ENSP00000435851:A290T	ENSP00000353670:A290T	A	-	1	0	SPOCD1	32052654	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.200000	0.00561	-2.634000	0.00433	-0.290000	0.09829	GCT		0.632	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32280067	C	T	32280067	3	4	158	1	0	0	0	0	1	0	0	0	15077	768	27	1	2842	1	SPOCD1	1	32280067	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		32280067	216970554	1	11101											
PTPRF	5792	broad.mit.edu	37	chr1	44056912	44056912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgaggcagtgcgggcaCgcacgggagaacaggcgccc	9	1	17	14	5	0	1	0	0	0	1	0	3	0	1	2	4	3	3	2	4	1	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:44056912C>T	ENST00000359947.4	+	9	1559	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCGGGCACGCACGGGAGA	0.701																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1219-1221)Cgc>Tgc		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							12	13	13					1																	44056912		2193	4277	6470	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056912C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1219C>T	1.37:g.44056912C>T	ENSP00000353030:p.Arg407Cys					PTPRF_uc001cjs.3_Missense_Mutation_p.R407C|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	p.R407C	NM_002840	NP_002831	P10586	PTPRF_HUMAN			8	1559	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	407			Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1219C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.83|18.83	3.706693|3.706693	0.68615|0.68615	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568	T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.000000|.	0.34555|.	N|.	0.003863|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.912|.	T|T	0.79259|0.79259	-0.1877|-0.1877	10|5	0.87932|.	D|.	0|.	.|.	15.1184|15.1184	0.72423|0.72423	0.2077:0.7923:0.0:0.0|0.2077:0.7923:0.0:0.0	.|.	407;407|.	P10586-2;P10586|.	.;PTPRF_HUMAN|.	C|M	407|74	ENSP00000353030:R407C;ENSP00000398822:R407C;ENSP00000361491:R407C;ENSP00000361490:R407C|.	ENSP00000353030:R407C|.	R|T	+|+	1|2	0|0	PTPRF|PTPRF	43829499|43829499	0.993000|0.993000	0.37304|0.37304	0.959000|0.959000	0.39883|0.39883	0.957000|0.957000	0.61999|0.61999	3.077000|3.077000	0.50089|0.50089	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44056912	C	T	44056912	3	4	158	1	0	0	0	0	1	0	0	0	12801	536	19	1	1245	1	PTPRF	1	44056912	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	11776845	44056912	205193709	2	11102											
CLCA1	1179	broad.mit.edu	37	chr1	86951220	86951220	+	Frame_Shift_Del	DEL	C	C	-																															caaagaattgtgtgtttagtCcttgacaaatctggaagcat																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:86951220delC	ENST00000234701.3	+	7	1281	c.930delC	c.(928-930)gtcfs	p.V310fs	CLCA1_ENST00000394711.1_Frame_Shift_Del_p.V310fs			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	310	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTGTTTAGTCCTTGACAAAT	0.448																																						uc001dlt.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(928-930)gtcfs		Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.							200	169	179					1																	86951220		2203	4300	6503	SO:0001589	frameshift_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86951220delC		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.930delC	1.37:g.86951220delC	ENSP00000234701:p.Val310fs					CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs	p.V310fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	5	1190	+		Lung NSC(277;0.239)	310			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Frame_Shift_Del	DEL	ENST00000234701.3	37	c.930delC	CCDS709.1																																																																																				0.448	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		-	86951220	C	-	86951220	7	5	158	1	0	1	0	1	0	0	0	0	3457	842	30	0	952	0	CLCA1	1	86951220	Frame_Shift_Del	DEL	C	TCGA-19-2625-01A-01D-1495-08	42894308	86951220	162299401	3	11103											
SLAMF6	114836	broad.mit.edu	37	chr1	160465979	160465979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggactgggtgaagttcagtCgctttccctgtttcggatta	7	14	12	8	2	1	1	1	1	0	0	4	3	2	3	1	3	0	3	1	3	2	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:160465979C>T	ENST00000368057.3	-	2	314	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.R85Q			Q96DU3	SLAF6_HUMAN	SLAM family member 6	85	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAGTTCAGTCGCTTTCCCTG	0.463																																						uc001fwe.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(253-255)cGa>cAa		Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.							233	198	210					1																	160465979		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160465979C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.254G>A	1.37:g.160465979C>T	ENSP00000357036:p.Arg85Gln					SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.2_Missense_Mutation_p.R36Q|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.R36Q	p.R85Q	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		1	324	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		85					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.254G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783448	0.49891	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.72282	-0.64;-0.64	4.95	0.995	0.19838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.249361	0.38058	N	0.001828	T	0.46541	0.1398	M	0.71871	2.18	0.09310	N	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.996	B;B;B;B	0.42625	0.231;0.273;0.393;0.393	T	0.48080	-0.9066	10	0.54805	T	0.06	-0.1302	4.284	0.10846	0.0:0.5536:0.1682:0.2782	.	36;85;85;85	B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	Q	85	ENSP00000357038:R85Q;ENSP00000357036:R85Q	ENSP00000357036:R85Q	R	-	2	0	SLAMF6	158732603	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.069000	0.14552	0.033000	0.15463	0.655000	0.94253	CGA		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		T	160465979	C	T	160465979	3	4	158	1	0	0	0	0	1	0	0	0	14368	884	31	2	772	2	SLAMF6	1	160465979	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	73514759	160465979	88784642	4	11104											
NPHS2	7827	broad.mit.edu	37	chr1	179520378	179520378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggacttgggaaggggAggcttccctgagttctgttg	7	11	17	6	0	1	1	0	1	1	0	2	5	2	5	1	6	0	3	1	6	2	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:179520378A>G	ENST00000367615.4	-	8	1150	c.1082T>C	c.(1081-1083)cTc>cCc	p.L361P	RP11-545A16.1_ENST00000569644.1_RNA|AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.L293P	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	361					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGGAAGGGGAGGCTTCCCTG	0.473																																						uc001gmq.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20	GRCh37	CM055460	NPHS2	M		c.(1081-1083)cTc>cCc		Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.							87	86	86					1																	179520378		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520378A>G	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.1082T>C	1.37:g.179520378A>G	ENSP00000356587:p.Leu361Pro					AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.L293P|AXDND1_uc001gmr.3_Non-coding_Transcript	p.L361P	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			7	1167	-			361					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.1082T>C	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099569	0.56183	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99667	-6.34;-6.34	5.34	5.34	0.76211	.	0.482902	0.23631	N	0.046128	D	0.97607	0.9216	N	0.19112	0.55	0.47276	D	0.999378	P;B	0.41848	0.763;0.0	B;B	0.41088	0.347;0.0	D	0.96399	0.9295	10	0.42905	T	0.14	-2.6	6.6636	0.23029	0.6927:0.1567:0.0:0.1506	.	293;361	Q9NP85-2;Q9NP85	.;PODO_HUMAN	P	361;293	ENSP00000356587:L361P;ENSP00000356588:L293P	ENSP00000356587:L361P	L	-	2	0	NPHS2	177787001	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.085000	0.41634	2.143000	0.66587	0.533000	0.62120	CTC		0.473	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			G	179520378	A	G	179520378	3	3	158	1	0	0	0	0	1	0	0	0	10583	304	11	4	73	4	NPHS2	1	179520378	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	19054399	179520378	69730243	5	11105											
CENPF	1063	broad.mit.edu	37	chr1	214816089	214816089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatgcagctgggcttggagGaggggctcgttccatccctg	6	9	16	10	1	0	1	0	0	0	1	3	3	2	3	2	5	2	5	2	5	0	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:214816089G>A	ENST00000366955.3	+	12	4576	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1566	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1470Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGGCTTGGAGGAGGGGCTCGT	0.478																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			1	Substitution - Missense(1)	p.E1470Q(2)	lung(1)	NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4408-4410)Gag>Aag		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							70	69	70					1																	214816089		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816089G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4408G>A	1.37:g.214816089G>A	ENSP00000355922:p.Glu1470Lys						p.E1470K	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	4582	+			1566			2 X 96 AA approximate tandem repeats.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.4408G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	4.705	0.131048	0.08981	.	.	ENSG00000117724	ENST00000366955	T	0.33216	1.42	4.73	4.73	0.59995	.	0.704021	0.11656	N	0.542353	T	0.18676	0.0448	L	0.29908	0.895	0.09310	N	1	P	0.37864	0.61	B	0.34824	0.19	T	0.06144	-1.0843	10	0.07813	T	0.8	.	8.6306	0.33917	0.0:0.1518:0.6681:0.1801	.	1470	P49454	CENPF_HUMAN	K	1470	ENSP00000355922:E1470K	ENSP00000355922:E1470K	E	+	1	0	CENPF	212882712	0.014000	0.17966	0.059000	0.19551	0.022000	0.10575	0.585000	0.23879	2.334000	0.79466	0.655000	0.94253	GAG		0.478	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214816089	G	A	214816089	3	1	158	1	0	0	0	0	1	0	0	0	3231	1175	41	3	4450	3	CENPF	1	214816089	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	35295711	214816089	34434532	6	11106											
EPRS	2058	broad.mit.edu	37	chr1	220154727	220154727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgaatacctaccaccacaTtgcaccactgattgagcttg	11	10	8	12	0	0	3	0	3	0	0	0	3	0	3	4	1	4	2	4	1	3	5	rs372289785		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:220154727T>C	ENST00000366923.3	-	24	3715	c.3446A>G	c.(3445-3447)aAt>aGt	p.N1149S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1149	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TACCACCACATTGCACCACTG	0.358																																						uc001hly.1																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(3445-3447)aAt>aGt		Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	T	SER/ASN	0,4406		0,0,2203	157	137	144		3446	6.1	1	1		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPRS	NM_004446.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	1149/1513	220154727	1,13005	2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220154727T>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3446A>G	1.37:g.220154727T>C	ENSP00000355890:p.Asn1149Ser					RNU5F-1_uc021pjd.1_Intron	p.N1149S	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	23	3716	-			1149			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3446A>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317076	0.81469	0.0	1.16E-4	ENSG00000136628	ENST00000366923	T	0.66638	-0.22	6.07	6.07	0.98685	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	N	0.25201	0.72	0.53005	D	0.999969	D	0.55605	0.972	D	0.64687	0.928	T	0.72272	-0.4342	10	0.59425	D	0.04	-39.4617	12.4026	0.55422	0.0:0.0667:0.0:0.9333	.	1149	P07814	SYEP_HUMAN	S	1149	ENSP00000355890:N1149S	ENSP00000355890:N1149S	N	-	2	0	EPRS	218221350	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.950000	0.63603	2.326000	0.78906	0.533000	0.62120	AAT		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		C	220154727	T	C	220154727	3	2	158	1	0	0	0	0	1	0	0	0	5191	1493	52	4	1128	4	EPRS	1	220154727	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	5338638	220154727	29095894	7	11107											
TGFA	7039	broad.mit.edu	37	chr2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttctccaaggcctggcacGcagccaacacaatacctgtt	10	9	8	14	1	1	0	0	0	1	0	2	0	1	0	4	2	3	4	4	2	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:70742029G>A	ENST00000295400.6	-	2	303	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_ENST00000418333.2_Missense_Mutation_p.A19V|TGFA_ENST00000450929.1_Missense_Mutation_p.A25V|TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000445399.1_Missense_Mutation_p.A19V|TGFA_ENST00000444975.1_Missense_Mutation_p.A25V	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	19					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)	p.A19V(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597																																						uc002sgs.4																			1	Substitution - Missense(1)	p.A19V(2)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(55-57)gCg>gTg		Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.							74	65	68					2																	70742029		2203	4300	6503	SO:0001583	missense	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70742029G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.56C>T	2.37:g.70742029G>A	ENSP00000295400:p.Ala19Val					TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V	p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN			1	304	-			19					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	c.56C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	5.866	0.344039	0.11126	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.17213	2.55;2.31;2.31;2.3;2.29;2.3	5.14	2.6	0.31112	.	0.377651	0.24940	N	0.034385	T	0.07098	0.0180	N	0.08118	0	0.24501	N	0.994259	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.36553	-0.9743	10	0.20519	T	0.43	.	6.2326	0.20744	0.7672:0.0:0.2328:0.0	.	25;25;19;19;19;19;19	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	V	19;19;19;25;25;19	ENSP00000295400:A19V;ENSP00000387493:A19V;ENSP00000404099:A19V;ENSP00000414127:A25V;ENSP00000404131:A25V;ENSP00000377787:A19V	ENSP00000295400:A19V	A	-	2	0	TGFA	70595537	1.000000	0.71417	0.917000	0.36280	0.231000	0.25187	2.007000	0.40883	0.435000	0.26365	-0.345000	0.07892	GCG		0.597	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			A	70742029	G	A	70742029	3	1	158	1	0	0	0	0	1	0	0	0	15812	1087	38	1	446	1	TGFA	2	70742029	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		70742029	172457344	8	11108											
THNSL2	55258	broad.mit.edu	37	chr2	88472749	88472749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctggctatgcacctgacgGgggcctctttatgcctgaag	6	11	12	12	1	2	2	0	2	2	0	2	2	2	2	3	3	2	2	3	3	3	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:88472749G>A	ENST00000324166.5	+	1	1771	c.80G>A	c.(79-81)gGg>gAg	p.G27E	THNSL2_ENST00000377254.3_Missense_Mutation_p.G27E|THNSL2_ENST00000343544.4_Missense_Mutation_p.G27E|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.G27E|THNSL2_ENST00000402102.1_Missense_Mutation_p.G27E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	27					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.G27V(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACCTGACGGGGGCCTCTTT	0.607																																						uc002ssy.4																			1	Substitution - Missense(1)	p.G27V(2)	lung(1)	breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(79-81)gGg>gAg		Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.							65	70	68					2																	88472749		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88472749G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.80G>A	2.37:g.88472749G>A	ENSP00000327323:p.Gly27Glu					THNSL2_uc002ssw.4_Missense_Mutation_p.G27E|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Missense_Mutation_p.G27E|THNSL2_uc021vkr.1_Missense_Mutation_p.G27E	p.G27E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			0	1771	+			27					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.80G>A	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315901	0.60524	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.36	5.36	0.76844	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.000000	0.64402	U	0.000001	T	0.65302	0.2678	H	0.95816	3.725	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77051	-0.2731	10	0.87932	D	0	.	18.0741	0.89422	0.0:0.0:1.0:0.0	.	27;27	Q86YJ6;Q86YJ6-2	THNS2_HUMAN;.	E	27	ENSP00000351402:G27E;ENSP00000366464:G27E;ENSP00000384475:G27E;ENSP00000391300:G27E;ENSP00000339563:G27E;ENSP00000327323:G27E	ENSP00000327323:G27E	G	+	2	0	THNSL2	88253864	1.000000	0.71417	0.631000	0.29282	0.017000	0.09413	7.337000	0.79256	2.496000	0.84212	0.561000	0.74099	GGG		0.607	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		A	88472749	G	A	88472749	3	1	158	1	0	0	0	0	1	0	0	0	15860	1232	43	3	82	3	THNSL2	2	88472749	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	17730720	88472749	154726624	9	11109											
YSK4	80122	broad.mit.edu	37	chr2	135745654	135745654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactagggctcccggaggcTcgtttgatgggctgagctca	7	10	14	10	2	1	2	1	2	0	0	3	3	2	3	1	4	2	5	1	4	2	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:135745654T>G	ENST00000375845.3	-	7	818	c.788A>C	c.(787-789)gAg>gCg	p.E263A	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E150A|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E280A|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	263							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCCCGGAGGCTCGTTTGATGG	0.443																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(787-789)gAg>gCg		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							79	85	83					2																	135745654		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745654T>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.788A>C	2.37:g.135745654T>G	ENSP00000365005:p.Glu263Ala					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E280A	p.E263A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	819	-			263					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.788A>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	5.244	0.230424	0.09969	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70282	-0.47;-0.47;1.9	4.62	0.795	0.18643	.	0.372474	0.19226	N	0.119529	T	0.44891	0.1315	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35649	-0.9780	10	0.87932	D	0	.	5.0391	0.14449	0.0:0.1617:0.1539:0.6844	.	150;280;263	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	A	263;150;280	ENSP00000365005:E263A;ENSP00000351140:E150A;ENSP00000376647:E280A	ENSP00000351140:E150A	E	-	2	0	YSK4	135462124	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.128000	0.15810	-0.010000	0.14271	-0.297000	0.09499	GAG		0.443	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		G	135745654	T	G	135745654	3	3	158	1	0	0	0	0	1	0	0	0	17492	1551	54	5	3214	5	YSK4	2	135745654	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	47272905	135745654	107453719	10	11110											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913090	143913090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaattctgatacttccGtggaaacactgaattctacc	13	12	5	11	1	2	2	0	2	2	0	3	3	3	3	2	1	4	0	2	1	6	6	rs140767178		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:143913090G>A	ENST00000295095.6	+	2	198	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.V11M	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	11					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATACTTCCGTGGAAACACT	0.363																																						uc002tvm.4																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(31-33)Gtg>Atg		Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	66	59	61		31	-4	0	2	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ARHGAP15	NM_018460.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	11/476	143913090	1,13005	2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913090G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.31G>A	2.37:g.143913090G>A	ENSP00000295095:p.Val11Met					ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M	p.V11M	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	1	182	+			11					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.31G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	6.554	0.470566	0.12461	2.27E-4	0.0	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08546	3.08	5.96	-3.96	0.04106	.	1.123690	0.06556	N	0.745888	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40384	-0.9566	10	0.37606	T	0.19	.	1.823	0.03115	0.3093:0.0738:0.3019:0.3149	.	11;11	B4E0R3;Q53QZ3	.;RHG15_HUMAN	M	11	ENSP00000295095:V11M	ENSP00000295095:V11M	V	+	1	0	ARHGAP15	143629560	0.002000	0.14202	0.012000	0.15200	0.582000	0.36321	-0.186000	0.09670	-1.790000	0.01263	-2.472000	0.00202	GTG		0.363	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		A	143913090	G	A	143913090	3	1	158	1	0	0	0	0	1	0	0	0	866	1145	40	1	33	1	ARHGAP15	2	143913090	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	8167436	143913090	99286283	11	11111											
SCN7A	6332	broad.mit.edu	37	chr2	167262458	167262458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatggggaggtccaaagCaatgagctggcccttgtttg	9	9	14	9	0	0	1	0	1	0	0	1	2	1	2	3	4	3	3	3	4	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:167262458C>A	ENST00000409855.1	-	25	4807	c.4681G>T	c.(4681-4683)Gct>Tct	p.A1561S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1561					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGGTCCAAAGCAATGAGCTGG	0.453																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4681-4683)Gct>Tct		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							115	117	116					2																	167262458		1946	4181	6127	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262458C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4681G>T	2.37:g.167262458C>A	ENSP00000386796:p.Ala1561Ser					SCN7A_uc010fpm.2_Non-coding_Transcript	p.A1561S	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	4811	-			1561						Missense_Mutation	SNP	ENST00000409855.1	37	c.4681G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832188	0.50845	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96522	-4.04	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000026	D	0.96312	0.8797	L	0.31664	0.95	0.30130	N	0.804917	P	0.52463	0.953	D	0.74674	0.984	D	0.93361	0.6727	10	0.41790	T	0.15	.	15.4902	0.75600	0.0:1.0:0.0:0.0	.	1561	Q01118	SCN7A_HUMAN	S	1561	ENSP00000386796:A1561S	ENSP00000259060:A1561S	A	-	1	0	SCN7A	166970704	0.000000	0.05858	0.931000	0.37212	0.994000	0.84299	-0.228000	0.09114	2.612000	0.88384	0.650000	0.86243	GCT		0.453	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167262458	C	A	167262458	3	1	158	1	0	0	0	0	1	0	0	0	13923	710	25	5	371	5	SCN7A	2	167262458	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	23349368	167262458	75936915	12	11112											
INPP5D	3635	broad.mit.edu	37	chr2	234106832	234106832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaatgcccctgcacGtgaagcagaccttgtcccct	8	7	9	17	1	0	2	0	1	0	1	1	2	1	2	7	1	3	2	7	1	2	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234106832G>A	ENST00000359570.5	+	27	2749	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M	INPP5D_ENST00000455936.2_Missense_Mutation_p.V681M|INPP5D_ENST00000450745.1_Missense_Mutation_p.V681M			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	929					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCCTGCACGTGAAGCAGAC	0.647																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.2																			0				central_nervous_system(1)|ovary(1)	2						c.(2698-2700)Gtg>Atg		Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.							30	34	33					2																	234106832		1983	4170	6153	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234106832G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2749G>A	2.37:g.234106832G>A	ENSP00000352575:p.Val917Met					INPP5D_uc010zmp.2_Missense_Mutation_p.V899M	p.V900M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	23	2851	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	929					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2698G>A		.	.	.	.	.	.	.	.	.	.	G	0.845	-0.740630	0.03088	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.96365	-3.95;-3.99;-3.99;-3.99;-3.99;-3.99	4.92	-0.56	0.11789	.	1.172470	0.05996	N	0.646848	D	0.90837	0.7122	.	.	.	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.11329	0.006;0.003	T	0.78961	-0.1997	9	0.35671	T	0.21	.	1.2884	0.02055	0.4189:0.1565:0.2842:0.1404	.	928;929	Q92835-2;Q92835	.;SHIP1_HUMAN	M	917;681;681;550;550;550;51	ENSP00000352575:V917M;ENSP00000407916:V681M;ENSP00000404610:V681M;ENSP00000400151:V550M;ENSP00000397421:V550M;ENSP00000405338:V550M	ENSP00000352575:V917M	V	+	1	0	INPP5D	233771571	0.016000	0.18221	0.000000	0.03702	0.054000	0.15201	-0.056000	0.11787	-0.359000	0.08150	-1.553000	0.00894	GTG		0.647	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		A	234106832	G	A	234106832	3	1	158	1	0	0	0	0	1	0	0	0	7756	1145	40	1	2391	1	INPP5D	2	234106832	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	66844374	234106832	9092541	13	11113											
UGT1A1	54658	broad.mit.edu	37	chr2	234669017	234669017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtggtgtcccatgctggGaagatactgttgatcccagt	8	11	12	10	0	0	2	0	1	0	1	2	3	2	3	3	2	2	2	3	2	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234669017G>A	ENST00000608383.1	+	1	84	c.84G>A	c.(82-84)ggG>ggA	p.G28G	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.G28G|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.G28G			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	28					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCCATGCTGGGAAGATACTGT	0.617																																						uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30								Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						64	50	55					2																	234669017		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669017G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.84G>A	2.37:g.234669017G>A						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.G28G|UGT1A1_uc002vvb.3_Silent_p.G28G		NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)			+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37		CCDS2510.1																																																																																				0.617	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				A	234669017	G	A	234669017	2	1	158	1	0	0	0	0	0	0	0	1	16941	1161	41	3		3	UGT1A1	2	234669017	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	562185	234669017	8530356	14	11114											
PPP1R7	5510	broad.mit.edu	37	chr2	242105797	242105797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagaacctggtgaacCtgcgggagctgtaccttagc	8	9	13	11	1	1	2	0	1	1	1	1	3	1	3	3	2	7	3	3	2	4	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:242105797C>G	ENST00000234038.6	+	8	1234	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000407025.1_Missense_Mutation_p.L254V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.L248V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.L254V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.L211V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.L195V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L211V	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	254					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCTGGTGAACCTGCGGGAGCT	0.552																																					NSCLC(62;446 1299 5417 11238 27640)	uc002wat.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(760-762)Ctg>Gtg		Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.							105	86	93					2																	242105797		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242105797C>G	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.760C>G	2.37:g.242105797C>G	ENSP00000234038:p.Leu254Val					PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002was.3_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V	p.L254V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	7	769	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	254					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.760C>G	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825385	0.71143	.	.	ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987	T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.996;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.996;0.982;0.99;0.999	T	0.78216	-0.2290	10	0.87932	D	0	-12.1954	9.8166	0.40856	0.0:0.7798:0.0:0.2202	.	238;195;211;254;254;248	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.;.;.;PP1R7_HUMAN;.;.	V	238;195;195;254;211;254;248;254;211	ENSP00000396376:L238V;ENSP00000385012:L195V;ENSP00000412092:L195V;ENSP00000385657:L254V;ENSP00000272983:L211V;ENSP00000234038:L254V;ENSP00000385498:L248V;ENSP00000385022:L254V;ENSP00000385466:L211V	ENSP00000234038:L254V	L	+	1	2	PPP1R7	241754470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.516000	0.35856	1.273000	0.44346	-0.136000	0.14681	CTG		0.552	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		G	242105797	C	G	242105797	3	3	158	1	0	0	0	0	1	0	0	0	12376	680	24	5	790	5	PPP1R7	2	242105797	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	7436780	242105797	1093576	15	11115											
CAND2	23066	broad.mit.edu	37	chr3	12856870	12856870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacagcccccgaagggaTggctggaggccatggaggaa	13	3	15	10	1	0	0	0	0	0	0	0	5	0	4	3	6	2	1	3	6	3	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:12856870T>A	ENST00000456430.2	+	8	1278	c.1237T>A	c.(1237-1239)Tgg>Agg	p.W413R	CAND2_ENST00000295989.5_Missense_Mutation_p.W320R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	413					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGAAGGGATGGCTGGAGGC	0.607																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1237-1239)Tgg>Agg		Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.							42	50	48					3																	12856870		2090	4204	6294	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856870T>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1237T>A	3.37:g.12856870T>A	ENSP00000387641:p.Trp413Arg					CAND2_uc003bxj.2_Missense_Mutation_p.W320R	p.W413R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			7	1286	+			413					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1237T>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	T	4.473	0.087619	0.08583	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.63255	-0.03;-0.03	4.7	3.46	0.39613	Armadillo-like helical (1);Armadillo-type fold (1);	0.096227	0.46758	D	0.000268	T	0.59432	0.2193	N	0.20401	0.57	0.80722	D	1	B;D	0.64830	0.0;0.994	B;D	0.78314	0.002;0.991	T	0.53479	-0.8433	10	0.16420	T	0.52	-22.8013	8.3986	0.32572	0.1753:0.0:0.0:0.8246	.	413;320	O75155;O75155-2	CAND2_HUMAN;.	R	320;413	ENSP00000295989:W320R;ENSP00000387641:W413R	ENSP00000295989:W320R	W	+	1	0	CAND2	12831870	1.000000	0.71417	0.839000	0.33178	0.304000	0.27724	4.556000	0.60775	1.748000	0.51833	0.459000	0.35465	TGG		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		A	12856870	T	A	12856870	3	1	158	1	0	0	0	0	1	0	0	0	2616	1464	51	5	1267	5	CAND2	3	12856870	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		12856870	185165560	16	11116											
LRIG1	26018	broad.mit.edu	37	chr3	66455660	66455660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctgagaaggcgccgctCgtgtcctctattgtgcccga	6	9	12	14	4	1	1	0	1	1	1	3	3	2	1	4	1	2	1	4	1	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:66455660C>T	ENST00000273261.3	-	9	1646	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	LRIG1_ENST00000383703.3_Silent_p.T374T|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	374					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGCGCCGCTCGTGTCCTCTA	0.612																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1120-1122)acG>acA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							106	90	96					3																	66455660		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66455660C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1122G>A	3.37:g.66455660C>T						LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_Silent_p.T40T|LRIG1_uc010hnz.3_Silent_p.T114T|LRIG1_uc010hoa.3_Silent_p.T374T	p.T374T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	8	1136	-		Lung NSC(201;0.0101)	374					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1122G>A	CCDS33783.1																																																																																				0.612	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		T	66455660	C	T	66455660	2	4	158	1	0	0	0	0	0	0	0	1	8944	871	31	2		2	LRIG1	3	66455660	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	53598790	66455660	131566770	17	11117											
GPR15	2838	broad.mit.edu	37	chr3	98251885	98251885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgagacatcagatagtcaCctcactaaggctctctccac	12	9	6	14	0	4	2	3	1	1	2	6	3	5	2	2	1	0	1	2	1	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:98251885C>G	ENST00000284311.3	+	1	1143	c.1008C>G	c.(1006-1008)caC>caG	p.H336Q		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	336					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGATAGTCACCTCACTAAGG	0.483																																						uc011bgy.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1006-1008)caC>caG		Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.							83	86	85					3																	98251885		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251885C>G		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1008C>G	3.37:g.98251885C>G	ENSP00000284311:p.His336Gln						p.H336Q	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	0	1008	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	336					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.1008C>G	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572006	0.28092	.	.	ENSG00000154165	ENST00000284311	T	0.65916	-0.18	5.08	2.35	0.29111	.	0.130267	0.34700	N	0.003753	T	0.55561	0.1928	N	0.24115	0.695	0.31171	N	0.703199	D	0.65815	0.995	P	0.57911	0.829	T	0.56038	-0.8045	10	0.27082	T	0.32	-16.2853	7.1408	0.25554	0.0:0.725:0.0:0.275	.	336	P49685	GPR15_HUMAN	Q	336	ENSP00000284311:H336Q	ENSP00000284311:H336Q	H	+	3	2	GPR15	99734575	0.997000	0.39634	0.995000	0.50966	0.937000	0.57800	1.076000	0.30729	0.423000	0.26033	-0.137000	0.14449	CAC		0.483	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			G	98251885	C	G	98251885	3	3	158	1	0	0	0	0	1	0	0	0	6655	506	18	5	1010	5	GPR15	3	98251885	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	31796225	98251885	99770545	18	11118											
PDLIM5	10611	broad.mit.edu	37	chr4	95575673	95575673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaattcaactgcgctcactGcaaaaatacaatggcctaca	16	8	6	11	1	2	1	2	0	0	1	2	1	2	1	1	1	5	2	1	1	7	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:95575673G>A	ENST00000317968.4	+	10	1482	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y	PDLIM5_ENST00000514743.1_Missense_Mutation_p.C478Y|PDLIM5_ENST00000542407.1_Missense_Mutation_p.C327Y|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.C340Y	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	449	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGCGCTCACTGCAAAAATACA	0.448																																						uc003hti.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1345-1347)tGc>tAc		Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.							113	114	113					4																	95575673		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95575673G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1346G>A	4.37:g.95575673G>A	ENSP00000321746:p.Cys449Tyr					PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003htj.3_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.3_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.2_Missense_Mutation_p.C327Y|PDLIM5_uc003hth.3_Missense_Mutation_p.C340Y|PDLIM5_uc003htl.3_Missense_Mutation_p.C124Y	p.C449Y	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	9	1497	+		Hepatocellular(203;0.114)	449			LIM zinc-binding 1.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.1346G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543798	0.86022	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61	5.86	5.86	0.93980	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99225	4.475	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.96134	0.9095	10	0.87932	D	0	.	20.1813	0.98205	0.0:0.0:1.0:0.0	.	346;478;449;340	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	Y	340;449;346;327;478	ENSP00000398469:C340Y;ENSP00000321746:C449Y;ENSP00000424297:C346Y;ENSP00000442187:C327Y;ENSP00000424360:C478Y	ENSP00000321746:C449Y	C	+	2	0	PDLIM5	95794696	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.864000	0.99589	2.763000	0.94921	0.585000	0.79938	TGC		0.448	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			A	95575673	G	A	95575673	3	1	158	1	0	0	0	0	1	0	0	0	11683	1319	46	3	1540	3	PDLIM5	4	95575673	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		95575673	95578603	19	11119											
ODZ3	55714	broad.mit.edu	37	chr4	183710311	183710311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagaaaagatctatgaCgaccaccgtaaatttctact	17	9	6	9	2	2	4	0	1	2	3	2	5	2	4	2	0	1	1	2	0	7	4	rs576293347	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:183710311C>T	ENST00000511685.1	+	25	5493	c.5370C>T	c.(5368-5370)gaC>gaT	p.D1790D	TENM3_ENST00000406950.2_Silent_p.D1790D			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1790					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGATCTATGACGACCACCGTA	0.448													C|||	2	0.000399361	0	0	5008	,	,		17932	0.001		0	False		,,,				2504	0.001					uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(5368-5370)gaC>gaT		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							37	36	36					4																	183710311		1904	4131	6035	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183710311C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5370C>T	4.37:g.183710311C>T							p.D1790D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	23	5445	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1790					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5370C>T	CCDS47165.1																																																																																				0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183710311	C	T	183710311	2	4	158	1	0	0	0	0	0	0	0	1	10836	535	19	1		1	ODZ3	4	183710311	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	88134638	183710311	7443965	20	11120											
SLC12A7	10723	broad.mit.edu	37	chr5	1085433	1085433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggccaggaagaccagCgccagcttgttgacatactt	11	7	11	12	2	0	2	0	1	0	1	0	3	0	3	3	2	3	3	3	2	2	4	rs112522540		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:1085433C>T	ENST00000264930.5	-	7	874	c.831G>A	c.(829-831)gcG>gcA	p.A277A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	277					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGACCAGCGCCAGCTTGT	0.637													c|||	1	0.000199681	8e-04	0	5008	,	,		15516	0		0	False		,,,				2504	0					uc003jbu.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(829-831)gcG>gcA		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	Potassium Chloride(DB00761)						96	69	78					5																	1085433		2197	4298	6495	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1085433C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.831G>A	5.37:g.1085433C>T							p.A277A	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		6	897	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		277					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.831G>A	CCDS34129.1																																																																																				0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		T	1085433	C	T	1085433	2	4	158	1	0	0	0	0	0	0	0	1	14388	755	27	1		1	SLC12A7	5	1085433	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08		1085433	179829827	21	11121											
JMY	133746	broad.mit.edu	37	chr5	78533329	78533329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaaatcgacactctgTgttaccagctccaggtctac	11	9	9	12	1	2	0	0	0	2	0	4	2	3	1	2	2	4	3	2	2	3	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:78533329T>C	ENST00000396137.4	+	1	1318	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	286					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGACACTCTGTGTTACCAGCT	0.632																																						uc003kfx.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(856-858)Tgt>Cgt		Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.							75	82	80					5																	78533329		1993	4160	6153	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78533329T>C	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.856T>C	5.37:g.78533329T>C	ENSP00000379441:p.Cys286Arg						p.C286R	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	0	1405	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	286					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.856T>C	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457011	0.63401	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.11712	2.75	5.12	3.96	0.45880	.	0.065016	0.64402	U	0.000007	T	0.14570	0.0352	M	0.78049	2.395	0.80722	D	1	B	0.17667	0.023	B	0.16722	0.016	T	0.03017	-1.1082	10	0.87932	D	0	.	6.9127	0.24344	0.0:0.0771:0.1499:0.773	.	286	Q8N9B5	JMY_HUMAN	R	286	ENSP00000379441:C286R	ENSP00000282259:C286R	C	+	1	0	JMY	78569085	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	5.684000	0.68197	0.797000	0.33971	0.460000	0.39030	TGT		0.632	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		C	78533329	T	C	78533329	3	2	158	1	0	0	0	0	1	0	0	0	7957	1696	59	4	858	4	JMY	5	78533329	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	77447896	78533329	102381931	22	11122											
EGR1	1958	broad.mit.edu	37	chr5	137801566	137801568	+	In_Frame_Del	DEL	TGC	TGC	-																															ccctaagctggaggagatgaTgctgctgagcaacggggctc																								rs538748263|rs577004119		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:137801566_137801568delTGC	ENST00000239938.4	+	1	388_390	c.116_118delTGC	c.(115-120)atgctg>atg	p.L41del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	41					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGGAGATGATGCTGCTGAGCAA	0.67																																						uc003ldb.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(115-120)atgctg>atg		Homo sapiens early growth response 1 (EGR1), mRNA.																																				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801566_137801568delTGC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.116_118delTGC	5.37:g.137801569_137801571delTGC	ENSP00000239938:p.Leu41del						p.L41del	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		0	386_388	+			41						In_Frame_Del	DEL	ENST00000239938.4	37	c.116_118delTGC	CCDS4206.1																																																																																				0.67	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		-	137801568	TGC	-	137801566	7	5	158	1	0	1	0	1	0	0	0	0	4971	1464	51	0	118	0	EGR1	5	137801566	In_Frame_Del	DEL	TGC	TCGA-19-2625-01A-01D-1495-08	59268237	137801566	43113694	23	11123											
MED7	9443	broad.mit.edu	37	chr5	156566183	156566183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaaggtccaagaaattaAtaaggatagacatattaagt	20	10	7	4	0	0	2	0	0	0	2	1	3	1	3	1	2	0	0	1	2	9	6			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:156566183A>G	ENST00000286317.5	-	2	641	c.260T>C	c.(259-261)aTt>aCt	p.I87T	MED7_ENST00000420343.1_Missense_Mutation_p.I87T	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	87					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGAAATTAATAAGGATAGA	0.378																																						uc010jik.3																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(259-261)aTt>aCt		Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.							53	58	56					5																	156566183		2201	4298	6499	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566183A>G	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.260T>C	5.37:g.156566183A>G	ENSP00000286317:p.Ile87Thr					MED7_uc003lwm.4_Missense_Mutation_p.I87T|MED7_uc021ygl.1_Missense_Mutation_p.I87T	p.I87T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	652	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	87						Missense_Mutation	SNP	ENST00000286317.5	37	c.260T>C	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473215	0.43942	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.91	4.74	0.60224	.	0.112881	0.64402	D	0.000014	T	0.43612	0.1255	N	0.22421	0.69	0.41796	D	0.989898	B	0.02656	0.0	B	0.10450	0.005	T	0.27773	-1.0064	9	0.44086	T	0.13	-38.6238	11.9911	0.53176	0.9327:0.0:0.0673:0.0	.	87	O43513	MED7_HUMAN	T	87	.	ENSP00000286317:I87T	I	-	2	0	MED7	156498761	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.253000	0.78320	1.056000	0.40484	0.533000	0.62120	ATT		0.378	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		G	156566183	A	G	156566183	3	3	158	1	0	0	0	0	1	0	0	0	9452	101	4	4	445	4	MED7	5	156566183	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	18764617	156566183	24349077	24	11124											
SQSTM1	8878	broad.mit.edu	37	chr5	179260112	179260114	+	In_Frame_Del	DEL	GAG	GAG	-																															ctccagagagttccagcacaGaggagaagagcagctcacag																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:179260112_179260114delGAG	ENST00000389805.4	+	6	1013_1015	c.835_837delGAG	c.(835-837)gagdel	p.E280del	SQSTM1_ENST00000510187.1_In_Frame_Del_p.E280del|SQSTM1_ENST00000376929.3_In_Frame_Del_p.E196del|SQSTM1_ENST00000360718.5_In_Frame_Del_p.E196del|SQSTM1_ENST00000402874.3_In_Frame_Del_p.E196del	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	280	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAGCACAGAGGAGAAGAGCA	0.596																																						uc003mkw.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(835-837)gagdel		Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.			,,	6,4258		1,4,2127					,,	-10	0			48	8,8246		4,0,4123	no	coding,coding,coding	SQSTM1	NM_003900.4,NM_001142299.1,NM_001142298.1	,,	5,4,6250	A1A1,A1R,RR		0.0969,0.1407,0.1118	,,	,,		14,12504				SO:0001651	inframe_deletion	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260112_179260114delGAG	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.835_837delGAG	5.37:g.179260115_179260117delGAG	ENSP00000374455:p.Glu280del					SQSTM1_uc011dgr.2_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.2_In_Frame_Del_p.E196del|SQSTM1_uc003mkx.3_In_Frame_Del_p.E196del	p.E280del	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	930_932	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	280			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	In_Frame_Del	DEL	ENST00000389805.4	37	c.835_837delGAG	CCDS34317.1																																																																																				0.596	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			-	179260114	GAG	-	179260112	7	5	158	1	0	1	0	1	0	0	0	0	15129	943	33	0	857	0	SQSTM1	5	179260112	In_Frame_Del	DEL	GAG	TCGA-19-2625-01A-01D-1495-08	22693929	179260112	1655148	25	11125											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217828	44217828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacagagtacctagaagaGaggcgggtcaaagaagtagt	16	5	14	6	1	1	5	1	0	0	5	1	6	1	5	1	2	1	2	1	2	6	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:44217828G>C	ENST00000371554.1	+	5	799	c.585G>C	c.(583-585)gaG>gaC	p.E195D	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E195D|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E195D			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	195					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCTAGAAGAGAGGCGGGTCA	0.428																																						uc003oxa.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(583-585)gaG>gaC		Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.							98	101	100					6																	44217828		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217828G>C	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.585G>C	6.37:g.44217828G>C	ENSP00000360609:p.Glu195Asp					HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR	p.E195D	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	669	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		195					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.585G>C	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480261	0.44044	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11821	2.74;2.74;2.74	4.49	0.561	0.17285	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.074396	0.52532	U	0.000072	T	0.11024	0.0269	M	0.89658	3.05	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.21151	0.033;0.001;0.002	T	0.04440	-1.0951	10	0.66056	D	0.02	-24.9371	9.6222	0.39727	0.3686:0.0:0.6314:0.0	.	157;185;195	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	D	147;195;195;195	ENSP00000360709:E195D;ENSP00000325875:E195D;ENSP00000360609:E195D	ENSP00000325875:E195D	E	+	3	2	HSP90AB1	44325806	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	0.651000	0.24873	0.041000	0.15688	-0.252000	0.11476	GAG		0.428	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		C	44217828	G	C	44217828	3	2	158	1	0	0	0	0	1	0	0	0	7402	933	33	5	599	5	HSP90AB1	6	44217828	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		44217828	126897239	26	11126											
GSTA4	2941	broad.mit.edu	37	chr6	52850376	52850376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttggaacagcaggtGgttacctgagaatggaagcc	11	9	13	8	0	0	1	0	1	0	1	0	4	0	3	2	4	4	3	2	4	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:52850376G>A	ENST00000370959.1	-	4	262	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	GSTA4_ENST00000541324.1_5'UTR|GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	49	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	AACAGCAGGTGGTTACCTGAG	0.458																																						uc003pbf.3																			0				endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.(145-147)Cac>Tac		Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	Glutathione(DB00143)						132	121	124					6																	52850376		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52850376G>A	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.145C>T	6.37:g.52850376G>A	ENSP00000359998:p.His49Tyr					GSTA4_uc003pbd.3_5'UTR	p.H49Y	NM_001512	NP_001503	O15217	GSTA4_HUMAN			3	295	-	Lung NSC(77;0.103)		49			GST N-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.145C>T	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	G	3.847	-0.032706	0.07543	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	T;T	0.06528	3.29;3.29	5.36	3.47	0.39725	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.381288	0.29692	N	0.011459	T	0.01061	0.0035	N	0.25647	0.755	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.47649	-0.9101	10	0.02654	T	1	-8.6722	3.3622	0.07190	0.1725:0.0:0.585:0.2426	.	49	O15217	GSTA4_HUMAN	Y	49	ENSP00000360002:H49Y;ENSP00000359998:H49Y	ENSP00000359998:H49Y	H	-	1	0	GSTA4	52958335	0.384000	0.25164	1.000000	0.80357	0.971000	0.66376	0.249000	0.18216	2.658000	0.90341	0.655000	0.94253	CAC		0.458	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		A	52850376	G	A	52850376	3	1	158	1	0	0	0	0	1	0	0	0	6833	1348	47	3	539	3	GSTA4	6	52850376	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	8632548	52850376	118264691	27	11127											
PHF3	23469	broad.mit.edu	37	chr6	64416078	64416078	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttgaggaggagaaacAggagtctccaaagtcaacgt	14	9	11	7	1	3	2	1	1	2	1	4	5	3	4	1	3	2	0	1	3	3	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:64416078A>T	ENST00000262043.3	+	12	3867	c.3527A>T	c.(3526-3528)cAg>cTg	p.Q1176L	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1176L			Q92576	PHF3_HUMAN	PHD finger protein 3	1176					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGAGAAACAGGAGTCTCCA	0.378																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3526-3528)cAg>cTg		Homo sapiens PHD finger protein 3 (PHF3), mRNA.							83	78	79					6																	64416078		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64416078A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3527A>T	6.37:g.64416078A>T	ENSP00000262043:p.Gln1176Leu					PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	p.Q1176L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		10	3552	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1176					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3527A>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393774	0.42410	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.48522	2.09;0.81;2.1;2.1	5.79	5.79	0.91817	.	0.000000	0.34676	N	0.003766	T	0.56746	0.2006	L	0.54323	1.7	0.58432	D	0.999991	D	0.76494	0.999	D	0.78314	0.991	T	0.58769	-0.7578	10	0.51188	T	0.08	-12.7372	16.1376	0.81497	1.0:0.0:0.0:0.0	.	1176	Q92576	PHF3_HUMAN	L	990;445;1176;1176	ENSP00000424694:Q990L;ENSP00000425338:Q445L;ENSP00000262043:Q1176L;ENSP00000377048:Q1176L	ENSP00000262043:Q1176L	Q	+	2	0	PHF3	64474037	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	4.928000	0.63447	2.212000	0.71576	0.533000	0.62120	CAG		0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64416078	A	T	64416078	3	4	158	1	0	0	0	0	1	0	0	0	11836	188	7	5	3569	5	PHF3	6	64416078	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	11565702	64416078	106698989	28	11128											
EZR	7430	broad.mit.edu	37	chr6	159210403	159210403	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaactcggacattgaTctgaaaaacagaatgaaaca	17	8	10	6	1	1	4	0	3	1	1	2	5	1	5	0	3	3	1	0	3	5	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:159210403T>C	ENST00000367075.3	-	3	181	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EZR_ENST00000337147.7_Splice_Site_p.I5V|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Splice_Site_p.I5V	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	5	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGACATTGATCTGAAAAACA	0.428			T	ROS1	NSCLC																																	uc003qrt.4				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.e2-1		Homo sapiens ezrin (EZR), transcript variant 1, mRNA.							102	92	96					6																	159210403		2203	4300	6503	SO:0001630	splice_region_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159210403T>C	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.13-1A>G	6.37:g.159210403T>C						EZR_uc011efs.2_Splice_Site_p.I5_splice|EZR_uc003qru.4_Splice_Site_p.I5_splice	p.I5_splice	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	2	228	-		Breast(66;0.000776)|Ovarian(120;0.0303)	5			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.13_splice	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460666	0.26248	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.75938	-0.98;-0.98;-0.98	4.67	4.67	0.58626	Band 4.1 domain (1);FERM domain (1);	0.218041	0.47455	D	0.000231	T	0.42245	0.1194	N	0.25426	0.745	0.54753	D	0.999981	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.43393	-0.9394	10	0.27785	T	0.31	.	7.3962	0.26938	0.0:0.1644:0.0:0.8356	.	5;5	E7EQR4;P15311	.;EZRI_HUMAN	V	5	ENSP00000338934:I5V;ENSP00000356042:I5V;ENSP00000376016:I5V	ENSP00000338934:I5V	I	-	1	0	EZR	159130391	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.039000	0.30266	2.074000	0.62210	0.454000	0.30748	ATC		0.428	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	Missense_Mutation	C	159210403	T	C	159210403	5	2	158	1	0	0	0	0	0	0	1	0	5335	1449	50	4	1795	4	EZR	6	159210403	Splice_Site	SNP	T	TCGA-19-2625-01A-01D-1495-08	94794325	159210403	11904664	29	11129											
MLLT4	4301	broad.mit.edu	37	chr6	168343837	168343837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagataaactaggaatctAtgtgaagtcggttgtgaaag	15	11	11	4	1	2	3	1	2	1	1	3	4	2	4	0	2	1	1	0	2	8	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:168343837A>G	ENST00000447894.2	+	23	3107	c.3107A>G	c.(3106-3108)tAt>tGt	p.Y1036C	MLLT4_ENST00000351017.4_Missense_Mutation_p.Y1043C|MLLT4_ENST00000392108.3_Missense_Mutation_p.Y1036C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000366806.2_Missense_Mutation_p.Y1036C|MLLT4_ENST00000392112.1_Missense_Mutation_p.Y1020C|MLLT4_ENST00000400822.3_Missense_Mutation_p.Y1035C|MLLT4_ENST00000344191.4_Missense_Mutation_p.Y1036C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1036	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGAATCTATGTGAAGTCG	0.373			T	MLL	AL																																	uc021zik.1				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2983-2985)tAt>tGt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.							178	161	167					6																	168343837		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168343837A>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3107A>G	6.37:g.168343837A>G	ENSP00000404595:p.Tyr1036Cys					MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.2_Missense_Mutation_p.Y1036C|MLLT4_uc021zij.1_Missense_Mutation_p.Y1020C|MLLT4_uc021zim.1_Missense_Mutation_p.Y582C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	p.Y995C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	22	3303	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1036					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2984A>G		.	.	.	.	.	.	.	.	.	.	A	22.5	4.300305	0.81136	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.58148	0.2102	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.71104	-0.4689	10	0.87932	D	0	-8.0093	15.0548	0.71904	1.0:0.0:0.0:0.0	.	1036;1035;1036;1020	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1036;1043;1036;1036;1020;1036;1035;1036	ENSP00000341118:Y1036C;ENSP00000252692:Y1043C;ENSP00000375956:Y1036C;ENSP00000355771:Y1036C;ENSP00000375960:Y1020C;ENSP00000383623:Y1035C;ENSP00000404595:Y1036C	ENSP00000345834:Y1036C	Y	+	2	0	MLLT4	168086686	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	8.558000	0.90704	1.954000	0.56735	0.528000	0.53228	TAT		0.373	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168343837	A	G	168343837	3	3	158	1	0	0	0	0	1	0	0	0	9629	449	16	4	3197	4	MLLT4	6	168343837	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	9133434	168343837	2771230	30	11130											
EGFR	1956	broad.mit.edu	37	chr7	55249002	55249003	+	In_Frame_Ins	INS	-	-	CAGCGTGGA																															caggaagcctacgtgatggcINScagcgtggacaacccccacg																								rs397517107|rs397517109		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:55249002_55249003insCAGCGTGGA	ENST00000275493.2	+	20	2477_2478	c.2300_2301insCAGCGTGGA	c.(2299-2304)gccagc>gcCAGCGTGGAcagc	p.768_769insVDS	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_In_Frame_Ins_p.715_716insVDS|EGFR_ENST00000455089.1_In_Frame_Ins_p.723_724insVDS|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> I (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type; dbSNP:rs121913465). {ECO:0000269|PubMed:15623594}.|V -> M (found in a lung cancer sample; dbSNP:rs147149347). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A767V(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TACGTGATGGCCAGCGTGGACA	0.649		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.V769_D770insASV(26)|p.D770_N771insSVD(24)|p.D770_N771insG(8)|p.D770>GY(4)|p.V769M(4)|p.A767V(3)|p.V769L(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.V769_D770insMASVD(2)|p.S768_V769insVAS(2)|p.N771_P772>SVDNR(2)|p.N771>TH(1)|p.N771>GT(1)|p.V769_D770insCV(1)|p.D770_N771insVDSVDNP(1)|p.D770_N771insGF(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.S768_V769>IL(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.(768_770)insRCD(1)|p.N771_P772insRH(1)|p.(V769)ins?(1)|p.N771>SH(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.S768_V769insAWT(1)|p.N771>GY(1)|p.S752_V769del(1)|p.N771>YG(1)|p.V769_D770insGRV(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)|p.N771>GF(1)	eye(1)|stomach(1)|lung(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2299-2301)gcc>gcCAGCGTGGAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001652	inframe_insertion	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249002_55249003insCAGCGTGGA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2301_2309dupCAGCGTGGA	7.37:g.55249003_55249011dupCAGCGTGGA	ENSP00000275493:p.Ser768_Val769insValAspSer	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_In_Frame_Ins_p.770_771insSVD|EGFR_uc010kzg.2_In_Frame_Ins_p.725_726insSVD|EGFR_uc022adn.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.2_In_Frame_Ins_p.717_718insSVD|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.5_6insSVD	p.770_771insSVD	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2546_2547	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		770			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Ins	INS	ENST00000275493.2	37	c.2300_2301insCAGCGTGGA	CCDS5514.1																																																																																				0.649	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		CAGCGTGGA	55249003	-	CAGCGTGGA	55249002	7	5	158	1	0	1	1	0	0	0	0	0	4967	739	26	0	2642	0	EGFR	7	55249002	In_Frame_Ins	INS	-	TCGA-19-2625-01A-01D-1495-08		55249002	103889661	31	11131											
CYP3A5	1577	broad.mit.edu	37	chr7	99277452	99277452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggacagttactcacagaTagaggagcaccaggctgaca	13	8	11	9	0	1	3	1	1	0	2	1	5	1	5	1	3	2	3	1	3	2	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:99277452T>C	ENST00000222982.4	-	1	167	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	CYP3A5_ENST00000339843.2_Missense_Mutation_p.Y23C|CYP3A5_ENST00000439761.1_Missense_Mutation_p.Y23C|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000480723.1_5'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	23					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TACTCACAGATAGAGGAGCAC	0.488																																						uc003urq.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(67-69)tAt>tGt		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.							127	118	121					7																	99277452		2203	4300	6503	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99277452T>C	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.68A>G	7.37:g.99277452T>C	ENSP00000222982:p.Tyr23Cys					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_5'UTR|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.Y23C	p.Y23C	NM_000777	NP_000768	P24462	CP3A7_HUMAN			0	170	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		23					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.68A>G	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121358	0.77436	.	.	ENSG00000106258	ENST00000222982;ENST00000339843;ENST00000439761	T;T;T	0.24908	1.83;1.83;1.83	2.67	2.67	0.31697	.	0.600016	0.16483	N	0.212451	T	0.41811	0.1175	L	0.58428	1.81	0.23132	N	0.998245	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.894	T	0.08066	-1.0740	10	0.87932	D	0	.	7.073	0.25189	0.0:0.0:0.0:1.0	.	23;23	B7Z5I7;P20815	.;CP3A5_HUMAN	C	23	ENSP00000222982:Y23C;ENSP00000343074:Y23C;ENSP00000401269:Y23C	ENSP00000222982:Y23C	Y	-	2	0	CYP3A5	99115388	0.616000	0.27035	0.942000	0.38095	0.820000	0.46376	2.791000	0.47829	1.214000	0.43395	0.260000	0.18958	TAT		0.488	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			C	99277452	T	C	99277452	3	2	158	1	0	0	0	0	1	0	0	0	4180	1406	49	4	1492	4	CYP3A5	7	99277452	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	44028450	99277452	59861211	32	11132											
DOCK5	80005	broad.mit.edu	37	chr8	25232155	25232155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacacgcttctcttgcaCgctgagcttctgcaggtgaa	7	11	10	13	2	2	2	0	2	2	0	3	2	2	2	1	1	4	5	1	1	2	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr8:25232155C>T	ENST00000276440.7	+	37	3845	c.3801C>T	c.(3799-3801)caC>caT	p.H1267H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1267	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCTCTTGCACGCTGAGCTTC	0.463																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3799-3801)caC>caT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							201	176	184					8																	25232155		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25232155C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3801C>T	8.37:g.25232155C>T						DOCK5_uc003xeh.1_Silent_p.H981H|DOCK5_uc003xek.3_Silent_p.H56H|DOCK5_uc003xei.3_Silent_p.H837H|DOCK5_uc003xej.3_Non-coding_Transcript	p.H1267H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	36	3938	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1267			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.3801C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	5.686	0.311142	0.10789	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.56	-9.51	0.00581	.	.	.	.	.	T	0.62732	0.2452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71919	-0.4447	4	.	.	.	.	17.3972	0.87449	0.0:0.5681:0.0:0.4319	.	.	.	.	C	1039	.	.	R	+	1	0	DOCK5	25288072	0.000000	0.05858	0.374000	0.26016	0.701000	0.40568	-2.073000	0.01376	-1.834000	0.01193	-1.008000	0.02478	CGC		0.463	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25232155	C	T	25232155	2	4	158	1	0	0	0	0	0	0	0	1	4690	535	19	1		1	DOCK5	8	25232155	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08		25232155	121131867	33	11133											
TBC1D2	55357	broad.mit.edu	37	chr9	101017509	101017509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagatcccctcctcagcGtccgccttacagtcaaacac	10	8	6	17	3	2	1	2	0	0	1	6	2	5	1	5	0	3	0	5	0	3	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr9:101017509G>C	ENST00000375064.1	-	1	353	c.315C>G	c.(313-315)gaC>gaG	p.D105E	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.D105E	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	105	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCCTCAGCGTCCGCCTTAC	0.537																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(313-315)gaC>gaG		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							61	61	61					9																	101017509		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017509G>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.315C>G	9.37:g.101017509G>C	ENSP00000364205:p.Asp105Glu					TBC1D2_uc004ayq.3_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.3_5'UTR	p.D105E	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	0	495	-		Myeloproliferative disorder(762;0.0255)	105			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.315C>G		.	.	.	.	.	.	.	.	.	.	G	2.541	-0.306398	0.05458	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.75367	-0.93;-0.93	5.79	2.61	0.31194	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.174109	0.49916	N	0.000123	T	0.36552	0.0971	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.36089	-0.9762	10	0.02654	T	1	.	2.9633	0.05900	0.096:0.1491:0.5277:0.2271	.	105;105	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	E	105	ENSP00000364205:D105E;ENSP00000364207:D105E	ENSP00000364205:D105E	D	-	3	2	TBC1D2	100057330	0.998000	0.40836	0.983000	0.44433	0.436000	0.31835	0.863000	0.27913	0.762000	0.33152	0.462000	0.41574	GAC		0.537	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		C	101017509	G	C	101017509	3	2	158	1	0	0	0	0	1	0	0	0	15605	1136	40	5	2490	5	TBC1D2	9	101017509	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		101017509	40195922	34	11134											
ARMC4	55130	broad.mit.edu	37	chr10	28229643	28229643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctccacagggccagtGccccacagcgagccacttcc	8	5	10	18	1	0	0	0	0	0	0	2	1	2	0	6	1	5	2	6	1	0	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:28229643G>T	ENST00000305242.5	-	13	1927	c.1835C>A	c.(1834-1836)gCa>gAa	p.A612E	ARMC4_ENST00000537576.1_Missense_Mutation_p.A304E|ARMC4_ENST00000545014.1_Missense_Mutation_p.A137E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	612					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGGCCAGTGCCCCACAGCG	0.517																																						uc009xky.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1834-1836)gCa>gAa		Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.							87	83	84					10																	28229643		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229643G>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1835C>A	10.37:g.28229643G>T	ENSP00000306410:p.Ala612Glu					ARMC4_uc010qds.2_Missense_Mutation_p.A137E|ARMC4_uc010qdt.2_Missense_Mutation_p.A304E|ARMC4_uc001itz.3_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E	p.A612E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			12	1933	-			612					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1835C>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029292	0.75504	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.68624	-0.34;-0.34;-0.34	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (2);	0.096930	0.64402	D	0.000001	D	0.84800	0.5552	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.88051	0.2787	10	0.72032	D	0.01	-8.973	18.2808	0.90097	0.0:0.0:1.0:0.0	.	137;612	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	E	304;612;137	ENSP00000443208:A304E;ENSP00000306410:A612E;ENSP00000441076:A137E	ENSP00000306410:A612E	A	-	2	0	ARMC4	28269649	1.000000	0.71417	0.940000	0.37924	0.261000	0.26267	9.436000	0.97532	2.384000	0.81235	0.655000	0.94253	GCA		0.517	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		T	28229643	G	T	28229643	3	4	158	1	0	0	0	0	1	0	0	0	953	1319	46	5	1331	5	ARMC4	10	28229643	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		28229643	107305104	35	11135											
PTEN	5728	broad.mit.edu	37	chr10	89685314	89685314	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattacaagatatacaatcTgtaagtatgttttcttattt	13	18	4	6	0	2	1	0	0	2	1	2	1	2	1	1	0	2	3	1	0	8	9	rs398123318|rs121909226		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:89685314T>A	ENST00000371953.3	+	3	1566	c.209T>A	c.(208-210)cTt>cAt	p.L70H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	70	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		L -> P (in CWS1). {ECO:0000269|PubMed:9832031}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATACAATCTGTAAGTATGT	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(6)|Substitution - Missense(1)|Complex - deletion inframe(1)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CS982332	PTEN	S	rs121909226	c.e3+1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							43	44	43					10																	89685314		2187	4276	6463	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685314T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.209+1T>A	10.37:g.89685314T>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Intron	p.L70_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1241	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	70		L -> P (in CD).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.209_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515284	0.85389	.	.	ENSG00000171862	ENST00000371953	D	0.98987	-5.3	5.46	5.46	0.80206	Phosphatase tensin type (1);	0.000000	0.64402	D	0.000001	D	0.99588	0.9851	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97670	1.0166	9	.	.	.	-5.8283	15.5246	0.75894	0.0:0.0:0.0:1.0	.	70	P60484	PTEN_HUMAN	H	70	ENSP00000361021:L70H	.	L	+	2	0	PTEN	89675294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.448000	0.80631	2.072000	0.62099	0.533000	0.62120	CTT		0.279	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation	A	89685314	T	A	89685314	5	1	158	1	0	0	0	0	0	0	1	0	12738	1594	55	5	219	5	PTEN	10	89685314	Splice_Site	SNP	T	TCGA-19-2625-01A-01D-1495-08	61455671	89685314	45849433	36	11136											
CDHR5	53841	broad.mit.edu	37	chr11	618758	618758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctggggtctgtgctgTgcccccaccgggtgtggctg	1	11	16	13	1	2	0	0	0	2	0	2	0	2	0	4	4	3	2	4	4	0	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:618758T>C	ENST00000358353.3	-	14	2123	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.T601A|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	601	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCTGTGCTGTGCCCCCACCG	0.667																																						uc001lql.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1801-1803)Aca>Gca		Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.							109	117	115					11																	618758		2202	4300	6502	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618758T>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1801A>G	11.37:g.618758T>C	ENSP00000351118:p.Thr601Ala					IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.T601A|CDHR5_uc009ycd.3_Missense_Mutation_p.T595A|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.T435A	p.T601A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			12	2068	-			601			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1801A>G	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	t	0.574	-0.839930	0.02692	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.41065	1.01;1.01	2.7	0.299	0.15771	.	.	.	.	.	T	0.21267	0.0512	N	0.14661	0.345	0.09310	N	1	B;B	0.21606	0.058;0.058	B;B	0.17098	0.017;0.017	T	0.17868	-1.0355	9	0.44086	T	0.13	2.5958	3.0454	0.06152	0.6274:0.0:0.1421:0.2305	.	595;601	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	A	601	ENSP00000380676:T601A;ENSP00000351118:T601A	ENSP00000351118:T601A	T	-	1	0	CDHR5	608758	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	-1.006000	0.03671	0.266000	0.21894	-0.695000	0.03696	ACA		0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	618758	T	C	618758	3	2	158	1	0	0	0	0	1	0	0	0	3122	1696	59	4	748	4	CDHR5	11	618758	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		618758	134387758	37	11137											
CD3E	916	broad.mit.edu	37	chr11	118184559	118184559	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccaagcctgtgacaCgaggagcgggtgctggcggc	8	4	17	12	3	0	1	0	1	0	0	0	3	0	2	3	5	3	1	3	5	2	0	rs201840561		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:118184559C>T	ENST00000361763.4	+	7	781	c.490C>T	c.(490-492)Cga>Tga	p.R164*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.R158*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	164					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCCTGTGACACGAGGAGCGGG	0.597																																						uc001psq.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(490-492)Cga>Tga		Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	Muromonab(DB00075)						58	53	55					11																	118184559		2200	4296	6496	SO:0001587	stop_gained	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118184559C>T	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.490C>T	11.37:g.118184559C>T	ENSP00000354566:p.Arg164*						p.R164*	NM_000733	NP_000724	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	6	746	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164					A8K997	Nonsense_Mutation	SNP	ENST00000361763.4	37	c.490C>T	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158649	0.38119	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.97	1.85	0.25348	.	0.000000	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3209	0.49421	0.4065:0.5935:0.0:0.0	.	.	.	.	X	164;158	.	ENSP00000354566:R164X	R	+	1	2	CD3E	117689769	0.613000	0.27009	0.034000	0.17996	0.435000	0.31806	0.845000	0.27668	0.182000	0.20032	0.491000	0.48974	CGA		0.597	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		T	118184559	C	T	118184559	4	4	158	1	0	0	0	0	0	1	0	0	3011	528	19	1	512	1	CD3E	11	118184559	Nonsense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	117565801	118184559	16821957	38	11138											
ABCC9	10060	broad.mit.edu	37	chr12	22065805	22065805	+	Splice_Site	DEL	C	C	-																															tgaaaatcaccaggaacttaCtccagttgtgttatttgtcc																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:22065805delC	ENST00000261201.4	-	6	1011		c.e6+1		ABCC9_ENST00000261200.4_Splice_Site|ABCC9_ENST00000345162.2_Splice_Site	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGGAACTTACTCCAGTTGTG	0.353																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.e6+1		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						70	65	67					12																	22065805		2203	4300	6503	SO:0001630	splice_region_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22065805delC	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1011+1G>-	12.37:g.22065805delC						ABCC9_uc001rfi.1_Splice_Site_p.G337_splice	p.G337_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN			6	1031	-			337			ABC transmembrane type-1 1.		O60707	Splice_Site	DEL	ENST00000261201.4	37	c.1011_splice	CCDS8694.1																																																																																				0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	Intron	-	22065805	C	-	22065805	8	5	158	1	0	1	0	1	0	0	1	0	59	579	20	0	3911	0	ABCC9	12	22065805	Splice_Site	DEL	C	TCGA-19-2625-01A-01D-1495-08		22065805	111786090	39	11139											
WNT10B	7480	broad.mit.edu	37	chr12	49361974	49361974	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtttggccctcagccGatcctgctcaccactgccct	6	9	8	18	1	2	0	2	0	0	0	3	1	3	0	5	1	4	3	5	1	0	1	rs187437079		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:49361974G>T	ENST00000301061.4	-	4	814	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	WNT10B_ENST00000403957.1_Intron|WNT10B_ENST00000407467.1_Silent_p.R156R	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	156					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCCCTCAGCCGATCCTGCTCA	0.667																																						uc001rss.3																			0		p.R156Q(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						c.(466-468)Cgg>Agg		Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.							44	39	41					12																	49361974		2203	4299	6502	SO:0001819	synonymous_variant	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49361974G>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"Wingless-type MMTV integration sites"	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.466C>A	12.37:g.49361974G>T						WNT10B_uc001rst.3_Silent_p.R156R	p.R156R	NM_003394	NP_003385	O00744	WN10B_HUMAN			3	910	-			156					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	37	c.466C>A	CCDS8775.1																																																																																				0.667	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		T	49361974	G	T	49361974	2	4	158	1	0	0	0	0	0	0	0	1	17380	1057	37	5		5	WNT10B	12	49361974	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	27296169	49361974	84489921	40	11140											
EP400	57634	broad.mit.edu	37	chr12	132471269	132471269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggggtggtggcatctgccCccaccaaaccacagagtcct	9	6	11	15	0	1	1	0	0	1	1	2	1	2	1	5	4	2	1	5	4	1	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:132471269C>A	ENST00000333577.4	+	7	2357	c.2248C>A	c.(2248-2250)Ccc>Acc	p.P750T	EP400_ENST00000389562.2_Missense_Mutation_p.P713T|EP400_ENST00000389561.2_Missense_Mutation_p.P714T|EP400_ENST00000332482.4_Missense_Mutation_p.P677T|EP400_ENST00000330386.6_Missense_Mutation_p.P714T			Q96L91	EP400_HUMAN	E1A binding protein p400	750					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCATCTGCCCCCACCAAACC	0.532																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2140-2142)Ccc>Acc		Homo sapiens E1A binding protein p400 (EP400), mRNA.							119	120	120					12																	132471269		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132471269C>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2248C>A	12.37:g.132471269C>A	ENSP00000333602:p.Pro750Thr					EP400_uc021rgq.1_Missense_Mutation_p.P713T|EP400_uc001ujm.3_Missense_Mutation_p.P714T|EP400_uc001ujj.2_Missense_Mutation_p.P677T|EP400_uc001ujk.3_Missense_Mutation_p.P750T	p.P714T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	5	2292	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	750					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2140C>A		.	.	.	.	.	.	.	.	.	.	C	2.598	-0.293655	0.05568	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90004	-2.57;-2.59;-2.6;-2.59;-2.59	5.71	-1.35	0.09114	.	0.448187	0.24891	N	0.034764	T	0.74696	0.3750	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.13594	0.001;0.001;0.001;0.008;0.0	B;B;B;B;B	0.13407	0.001;0.001;0.001;0.009;0.001	T	0.58323	-0.7656	10	0.23891	T	0.37	.	4.1514	0.10240	0.3417:0.2505:0.3375:0.0704	.	714;714;713;750;677	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	T	677;750;714;713;677;714;750;714;714	ENSP00000333602:P750T;ENSP00000374212:P714T;ENSP00000374213:P713T;ENSP00000331737:P677T;ENSP00000330620:P714T	ENSP00000330620:P714T	P	+	1	0	EP400	131037222	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.477000	0.06583	0.048000	0.15891	-0.311000	0.09066	CCC		0.532	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132471269	C	A	132471269	3	1	158	1	0	0	0	0	1	0	0	0	5149	623	22	5	2155	5	EP400	12	132471269	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	83109295	132471269	1380626	41	11141											
RB1	5925	broad.mit.edu	37	chr13	48919325	48919332	+	Frame_Shift_Del	DEL	AAATTGGA	AAATTGGA	-																															tattgtttgcactcttcagcAaattggaaaggtaaagtaaa																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr13:48919325_48919332delAAATTGGA	ENST00000267163.4	+	4	628_635	c.490_497delAAATTGGA	c.(490-498)aaattggaafs	p.KLE164fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	164					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E166*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACTCTTCAGCAAATTGGAAAGGTAAAGT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		22	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(1)	p.0?(15)|p.?(6)|p.E166*(2)	bone(11)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(490-498)aaattggaafs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48919325_48919332delAAATTGGA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.490_497delAAATTGGA	13.37:g.48919325_48919332delAAATTGGA	ENSP00000267163:p.Lys164fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.K164fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	656_663	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	164					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.490_497delAAATTGGA	CCDS31973.1																																																																																				0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48919332	AAATTGGA	-	48919325	7	5	158	1	0	1	0	1	0	0	0	0	13098	131	5	0	504	0	RB1	13	48919325	Frame_Shift_Del	DEL	AAATTGGA	TCGA-19-2625-01A-01D-1495-08		48919325	66250553	42	11142											
KIAA0317	9870	broad.mit.edu	37	chr14	75149998	75149998	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaaggaaaaaagaacctaCcaggttgaaaaattttgtag	20	8	9	4	0	0	3	0	1	0	2	0	4	0	4	2	2	2	2	2	2	9	5			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr14:75149998C>T	ENST00000356357.4	-	5	997		c.e5+1		AREL1_ENST00000557401.1_Splice_Site	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										aaagaaCCTACCAGGTTGAAA	0.388																																						uc001xqb.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e5+1		Homo sapiens KIAA0317 (KIAA0317), mRNA.							66	65	65					14																	75149998		1825	4083	5908	SO:0001630	splice_region_variant	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75149998C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.481+1G>A	14.37:g.75149998C>T						KIAA0317_uc010tut.1_Splice_Site	p.G161_splice	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	5	986	-			161					B4E2C7|Q7LDY1|Q8IYY9	Splice_Site	SNP	ENST00000356357.4	37	c.481_splice	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823714	0.71143	.	.	ENSG00000119682	ENST00000356357	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0346	0.86470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0317	74219751	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.175000	0.77632	2.452000	0.82932	0.462000	0.41574	.		0.388	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821	Intron	T	75149998	C	T	75149998	5	4	158	1	0	0	0	0	0	0	1	0	8167	521	18	3	2053	3	KIAA0317	14	75149998	Splice_Site	SNP	C	TCGA-19-2625-01A-01D-1495-08		75149998	32199542	43	11143											
PGP	283871	broad.mit.edu	37	chr16	2263929	2263929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtctcccaccatgaCggtgcgctcggggttgatgc	5	8	15	13	4	1	2	0	2	1	0	3	2	1	2	2	5	2	2	2	5	0	1	rs563436875		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:2263929C>A	ENST00000333503.7	-	2	795	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	256					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CCCACCATGACGGTGCGCTCG	0.632																																					GBM(63;906 1080 2092 17773 18795)	uc002cpk.1																			0				skin(1)	1						c.(766-768)Gtc>Ttc		Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.							85	92	90					16																	2263929		2040	4216	6256	SO:0001583	missense	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2263929C>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.766G>T	16.37:g.2263929C>A	ENSP00000330918:p.Val256Phe					C16orf79_uc002cpi.2_5'Flank|C16orf79_uc010bsh.3_5'Flank	p.V256F	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN			1	810	-			256						Missense_Mutation	SNP	ENST00000333503.7	37	c.766G>T	CCDS42104.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557396	0.65425	.	.	ENSG00000184207	ENST00000333503	T	0.34859	1.34	4.66	2.71	0.32032	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.240936	0.35262	N	0.003331	T	0.49762	0.1576	M	0.62154	1.92	0.45822	D	0.998697	D	0.61080	0.989	D	0.63877	0.919	T	0.46555	-0.9183	10	0.66056	D	0.02	-16.2661	8.289	0.31946	0.0:0.7368:0.0:0.2632	.	256	A6NDG6	PGP_HUMAN	F	256	ENSP00000330918:V256F	ENSP00000330918:V256F	V	-	1	0	PGP	2203930	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.755000	0.47540	0.574000	0.29417	0.655000	0.94253	GTC		0.632	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118		A	2263929	C	A	2263929	3	1	158	1	0	0	0	0	1	0	0	0	11802	536	19	5	203	5	PGP	16	2263929	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		2263929	88090824	44	11144											
CDH5	1003	broad.mit.edu	37	chr16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaatacagcttcatcGtcgaggccacagaccccacc	11	6	7	17	2	1	1	1	0	0	1	4	2	2	1	5	1	3	2	5	1	2	2	rs147523967		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:66426078G>A	ENST00000341529.3	+	7	1157	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	CDH5_ENST00000563425.2_Missense_Mutation_p.V337I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CAGCTTCATCGTCGAGGCCAC	0.547													G|||	1	0.000199681	0	0	5008	,	,		19702	0.001		0	False		,,,				2504	0					uc002eom.4																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1009-1011)Gtc>Atc		Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.		G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	162	159	160		1009	2.2	0.7	16	dbSNP_134	160	0,8600		0,0,4300	no	missense	CDH5	NM_001795.3	29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	337/785	66426078	1,13001	2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426078G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1009G>A	16.37:g.66426078G>A	ENSP00000344115:p.Val337Ile					CDH5_uc002eon.1_Missense_Mutation_p.V337I	p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	6	1165	+		Ovarian(137;0.0955)	337			Cadherin 3.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1009G>A	CCDS10804.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.566	-0.535388	0.04082	2.27E-4	0.0	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.48836	0.8	5.56	2.19	0.27852	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.25531	0.0621	N	0.11651	0.15	0.26949	N	0.966072	B	0.12013	0.005	B	0.14023	0.01	T	0.21690	-1.0238	9	0.21014	T	0.42	.	7.9394	0.29950	0.7568:0.0:0.2432:0.0	.	337	P33151	CADH5_HUMAN	I	337;337;78	ENSP00000344115:V337I	ENSP00000344115:V337I	V	+	1	0	CDH5	64983579	0.018000	0.18449	0.705000	0.30386	0.045000	0.14185	0.290000	0.18975	0.415000	0.25817	-0.302000	0.09304	GTC		0.547	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		A	66426078	G	A	66426078	3	1	158	1	0	0	0	0	1	0	0	0	3113	1145	40	1	1031	1	CDH5	16	66426078	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	64162149	66426078	23928675	45	11145											
PMFBP1	83449	broad.mit.edu	37	chr16	72153835	72153835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttccagcccaaggtgccGcacactttctccctctgtgt	5	11	7	18	1	2	0	0	0	2	0	4	0	3	0	5	1	2	1	5	1	1	2	rs201023213		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:72153835G>A	ENST00000237353.10	-	20	3183	c.2922C>T	c.(2920-2922)tgC>tgT	p.C974C	PMFBP1_ENST00000355636.6_Silent_p.C849C|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000537465.1_Silent_p.C979C	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	979						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCAAGGTGCCGCACACTTTCT	0.557													G|||	1	0.000199681	0	0	5008	,	,		18061	0		0	False		,,,				2504	0.001					uc002fcc.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2935-2937)tgC>tgT		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							130	106	114					16																	72153835		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72153835G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2922C>T	16.37:g.72153835G>A						PMFBP1_uc002fcd.3_Silent_p.C974C|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.C849C	p.C979C	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			19	3109	-		Ovarian(137;0.179)	979					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.2937C>T	CCDS32483.1																																																																																				0.557	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		A	72153835	G	A	72153835	2	1	158	1	0	0	0	0	0	0	0	1	12134	1079	38	1		1	PMFBP1	16	72153835	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	5727757	72153835	18200918	46	11146											
KARS	3735	broad.mit.edu	37	chr16	75669879	75669879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgtgatctcataCggaatgatgctcagctcacc	11	9	10	11	1	3	2	3	2	1	0	4	4	3	3	1	1	4	3	1	1	2	1	rs143003475		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:75669879C>T	ENST00000302445.3	-	5	639	c.600G>A	c.(598-600)ccG>ccA	p.P200P	KARS_ENST00000319410.5_Silent_p.P228P|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	200					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGATCTCATACGGAATGATGC	0.448																																						uc002feq.3																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(598-600)ccG>ccA		Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	L-Lysine(DB00123)	C	,	1,4395	2.1+/-5.4	0,1,2197	120	91	101		684,600	3.1	0.5	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KARS	NM_001130089.1,NM_005548.2	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	228/626,200/598	75669879	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75669879C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.600G>A	16.37:g.75669879C>T						KARS_uc002fer.3_Silent_p.P228P|KARS_uc010cgz.3_Silent_p.P44P	p.P200P	NM_005548	NP_005539	Q15046	SYK_HUMAN			4	648	-			200					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	c.600G>A	CCDS10923.1																																																																																				0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75669879	C	T	75669879	2	4	158	1	0	0	0	0	0	0	0	1	7980	523	19	1		1	KARS	16	75669879	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	3516044	75669879	14684874	47	11147											
OR1G1	8390	broad.mit.edu	37	chr17	3030338	3030338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggatctcatggtttgCgcagaaggacaggctgttca	8	11	15	7	1	2	1	2	0	1	1	3	3	2	3	0	4	1	4	0	4	1	2	rs201573244		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:3030338C>T	ENST00000328890.2	-	1	537	c.508G>A	c.(508-510)Gca>Aca	p.A170T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	170					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TCATGGTTTGCGCAGAAGGAC	0.532																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(508-510)Gca>Aca		Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.							166	151	156					17																	3030338		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030338C>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.508G>A	17.37:g.3030338C>T	ENSP00000331545:p.Ala170Thr						p.A170T	NM_003555	NP_003546	P47890	OR1G1_HUMAN			0	508	-			170					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.508G>A	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	7.029	0.560287	0.13498	.	.	ENSG00000183024	ENST00000328890	T	0.36699	1.24	4.53	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28797	0.0714	N	0.26092	0.79	0.23023	N	0.998414	D	0.69078	0.997	P	0.53035	0.716	T	0.07028	-1.0794	9	0.02654	T	1	.	8.0263	0.30438	0.162:0.7514:0.0:0.0865	.	170	P47890	OR1G1_HUMAN	T	170	ENSP00000331545:A170T	ENSP00000331545:A170T	A	-	1	0	OR1G1	2977088	0.002000	0.14202	0.790000	0.31976	0.428000	0.31595	0.342000	0.19926	0.500000	0.27991	-0.356000	0.07607	GCA		0.532	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			T	3030338	C	T	3030338	3	4	158	1	0	0	0	0	1	0	0	0	10957	768	27	1	437	1	OR1G1	17	3030338	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		3030338	78164872	48	11148											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132	103	113					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.C238Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577568	C	T	7577568	3	4	158	1	0	0	0	0	1	0	0	0	16378	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	4547230	7577568	73617642	49	11149											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(127)|p.E204*(27)|p.Y205S(26)|p.Y205F(16)|p.Y205D(14)|p.Y205H(8)|p.0?(8)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.Y205N(4)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.E204fs*4(1)|p.Y73S(1)|p.V203_E204>V*(1)|p.Y112S(1)|p.Y205fs*43(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(613-615)tAt>tGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							136	121	126					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.3_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.2_Missense_Mutation_p.Y166C|DL476358_uc021tph.1_5'Flank	p.Y205C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	808	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578235	T	C	7578235	3	2	158	1	0	0	0	0	1	0	0	0	16378	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	667	7578235	73616975	50	11150											
MYH2	4620	broad.mit.edu	37	chr17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctttctaggtccatgcGaagtttcttttcttgctcca	6	16	7	12	1	3	0	0	0	3	0	5	1	5	0	3	1	3	2	3	1	2	6			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:10432765G>A	ENST00000245503.5	-	25	3535	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1051C|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1051					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1051C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCATGCGAAGTTTCTTT	0.383																																						uc010coi.3																			1	Substitution - Missense(1)	p.R1051C(2)|p.R1051H(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3151-3153)Cgc>Tgc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							123	117	119					17																	10432765		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432765G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3151C>T	17.37:g.10432765G>A	ENSP00000245503:p.Arg1051Cys					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|MYH2_uc010coj.3_Intron	p.R1051C	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			24	3279	-			1051					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3151C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069009	0.55539	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.95885	-3.84;-3.84	5.24	5.24	0.73138	.	0.000000	0.40144	U	0.001162	D	0.97235	0.9096	H	0.97265	3.97	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	D	0.95818	0.8847	10	0.87932	D	0	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1051	Q9UKX2	MYH2_HUMAN	C	1051	ENSP00000245503:R1051C;ENSP00000380367:R1051C	ENSP00000245503:R1051C	R	-	1	0	MYH2	10373490	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.349000	0.59385	2.718000	0.92993	0.591000	0.81541	CGC		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10432765	G	A	10432765	3	1	158	1	0	0	0	0	1	0	0	0	10035	1058	37	2	2738	2	MYH2	17	10432765	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	2854530	10432765	70762445	51	11151											
MUC16	94025	broad.mit.edu	37	chr19	9068025	9068025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgagtcatagctgagTgggtccctgcctgtgaggtt	7	12	13	9	0	1	3	1	3	0	0	3	3	3	3	3	2	2	2	3	2	1	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:9068025T>C	ENST00000397910.4	-	3	19624	c.19421A>G	c.(19420-19422)cAc>cGc	p.H6474R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6476	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAGCTGAGTGGGTCCCTGC	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19420-19422)cAc>cGc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							201	200	200					19																	9068025		2002	4180	6182	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068025T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19421A>G	19.37:g.9068025T>C	ENSP00000381008:p.His6474Arg						p.H6474R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	19625	-			6476			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19421A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.034	-0.198948	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.37915	1.17	1.83	-0.554	0.11811	.	.	.	.	.	T	0.20170	0.0485	L	0.42245	1.32	.	.	.	P	0.39809	0.689	B	0.26693	0.072	T	0.18967	-1.0320	8	0.87932	D	0	.	2.4496	0.04515	0.271:0.0:0.2765:0.4525	.	6474	B5ME49	.	R	6474	ENSP00000381008:H6474R	ENSP00000381008:H6474R	H	-	2	0	MUC16	8929025	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.201000	0.09464	-0.204000	0.10235	0.149000	0.16113	CAC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9068025	T	C	9068025	3	2	158	1	0	0	0	0	1	0	0	0	9973	1696	59	4	24430	4	MUC16	19	9068025	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		9068025	50060958	52	11152											
LDLR	3949	broad.mit.edu	37	chr19	11224247	11224247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacggcgtctcttcctaTgacaccgtcatcagcagaga	9	8	9	15	3	3	2	2	1	1	1	5	3	4	2	3	1	1	1	3	1	1	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:11224247T>C	ENST00000558518.1	+	10	1582	c.1395T>C	c.(1393-1395)taT>taC	p.Y465Y	LDLR_ENST00000535915.1_Silent_p.Y424Y|LDLR_ENST00000455727.2_Silent_p.Y297Y|LDLR_ENST00000545707.1_Silent_p.Y338Y|LDLR_ENST00000557933.1_Silent_p.Y465Y|LDLR_ENST00000558013.1_Silent_p.Y465Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	465					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TCTCTTCCTATGACACCGTCA	0.622																																					GBM(18;201 575 7820 21545)	uc002mqk.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1393-1395)taT>taC		Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						45	43	44					19																	11224247		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224247T>C	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1395T>C	19.37:g.11224247T>C						LDLR_uc010xlk.2_Silent_p.Y465Y|LDLR_uc010xll.2_Silent_p.Y424Y|LDLR_uc021upc.1_Silent_p.Y344Y|LDLR_uc010xln.2_Silent_p.Y338Y|LDLR_uc010xlo.2_Silent_p.Y297Y|LDLR_uc010xlm.2_Silent_p.Y318Y|LDLR_uc021upd.1_Silent_p.Y202Y	p.Y465Y	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	9	1582	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	465					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1395T>C	CCDS12254.1																																																																																				0.622	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			C	11224247	T	C	11224247	2	2	158	1	0	0	0	0	0	0	0	1	8704	1471	51	4		4	LDLR	19	11224247	Silent	SNP	T	TCGA-19-2625-01A-01D-1495-08	2156222	11224247	47904736	53	11153											
PRPF31	26121	broad.mit.edu	37	chr19	54621969	54621969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttgctgagattatgaTgaagattgaggagtatatca	14	13	11	3	0	1	5	1	4	0	2	1	7	1	6	0	1	1	3	0	1	4	5	rs145505952	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:54621969T>C	ENST00000321030.4	+	3	543	c.194T>C	c.(193-195)aTg>aCg	p.M65T	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.M65T|PRPF31_ENST00000391755.1_Missense_Mutation_p.M65T|TFPT_ENST00000391759.1_5'Flank	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	65					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGATTATGATGAAGATTGAG	0.502																																						uc002qdh.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(193-195)aTg>aCg		Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.							165	161	162					19																	54621969		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54621969T>C	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.194T>C	19.37:g.54621969T>C	ENSP00000324122:p.Met65Thr					TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T|PRPF31_uc021vbi.1_Missense_Mutation_p.M65T	p.M65T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			2	590	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		65					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.194T>C	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	T	7.523	0.657061	0.14580	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	T;D;T;D;D;D	0.89485	-0.94;-2.52;-0.94;-2.52;-2.52;-2.52	4.96	4.96	0.65561	.	0.332611	0.32769	N	0.005672	T	0.70334	0.3212	N	0.01168	-0.975	0.31846	N	0.6228	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.65990	-0.6034	10	0.12103	T	0.63	-22.1877	13.9511	0.64118	0.0:0.0:0.0:1.0	.	65;65	E7ESA8;Q8WWY3	.;PRP31_HUMAN	T	65	ENSP00000324122:M65T;ENSP00000395894:M65T;ENSP00000405166:M65T;ENSP00000408980:M65T;ENSP00000395089:M65T;ENSP00000375635:M65T	ENSP00000263436:M65T	M	+	2	0	PRPF31	59313781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.481000	0.45215	1.997000	0.58415	0.533000	0.62120	ATG		0.502	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			C	54621969	T	C	54621969	3	2	158	1	0	0	0	0	1	0	0	0	12566	1464	51	4	200	4	PRPF31	19	54621969	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	43397722	54621969	4507014	54	11154											
C20orf72	27131	broad.mit.edu	37	chr20	17950509	17950509	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacaaatctgaatgaagAtgaagttatttcagaccatt	18	11	7	5	0	2	5	1	3	1	2	2	6	2	5	1	0	1	1	1	0	7	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:17950509A>G	ENST00000377768.3	-	0	0				SNX5_ENST00000377759.4_5'Flank|MGME1_ENST00000377709.1_Missense_Mutation_p.M3V|SNX5_ENST00000481323.1_5'Flank|SNX5_ENST00000606602.1_5'Flank|SNX5_ENST00000606557.1_5'Flank|SNX5_ENST00000486039.1_5'Flank|MGME1_ENST00000377704.4_Missense_Mutation_p.M3V|MGME1_ENST00000377710.5_Missense_Mutation_p.M3V	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTGAATGAAGATGAAGTTATT	0.408																																						uc002wqh.3																			0				breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						c.(7-9)Atg>Gtg		Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.							52	52	52					20																	17950509		2203	4298	6501	SO:0001631	upstream_gene_variant	92667							g.chr20:17950509A>G	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17950509A>G	Exception_encountered					C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_5'Flank|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank	p.M3V	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN			1	89	+			3					B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.7A>G	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415742	0.62511	.	.	ENSG00000125871	ENST00000377710;ENST00000377709;ENST00000377704	T;T;T	0.53206	0.86;0.63;0.63	5.67	5.67	0.87782	.	0.206689	0.64402	D	0.000014	T	0.65228	0.2671	M	0.68952	2.095	0.40816	D	0.98346	D	0.63880	0.993	D	0.68192	0.956	T	0.67377	-0.5686	10	0.48119	T	0.1	-30.2637	13.8729	0.63631	1.0:0.0:0.0:0.0	.	3	Q9BQP7	CT072_HUMAN	V	3	ENSP00000366939:M3V;ENSP00000366938:M3V;ENSP00000366933:M3V	ENSP00000366933:M3V	M	+	1	0	C20orf72	17898509	1.000000	0.71417	0.989000	0.46669	0.649000	0.38597	4.307000	0.59123	2.155000	0.67459	0.459000	0.35465	ATG		0.408	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			G	17950509	A	G	17950509	1	3	158	0	1	0	0	0	0	0	0	0	2118	333	12	4		4	C20orf72	20	17950509	5'Flank	SNP	A	TCGA-19-2625-01A-01D-1495-08		17950509	45075011	55	11155											
WFDC8	90199	broad.mit.edu	37	chr20	44184401	44184401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgttggcattcccttcGcagcccctgtatttgaaggg	7	13	11	10	1	0	1	0	1	0	0	2	1	1	1	3	2	1	5	3	2	3	6	rs150100809	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:44184401G>A	ENST00000357199.4	-	4	462	c.384C>T	c.(382-384)tgC>tgT	p.C128C	WFDC8_ENST00000289953.2_Silent_p.C128C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	128	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATTCCCTTCGCAGCCCCTGT	0.468													G|||	2	0.000399361	0.0015	0	5008	,	,		19325	0		0	False		,,,				2504	0					uc002xow.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(382-384)tgC>tgT		Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.		G	,	3,4403	6.2+/-15.9	0,3,2200	128	112	118		384,384	3.3	0.1	20	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFDC8	NM_130896.2,NM_181510.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	128/242,128/242	44184401	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44184401G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.384C>T	20.37:g.44184401G>A						WFDC8_uc002xox.3_Silent_p.C128C	p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			3	463	-		Myeloproliferative disorder(115;0.0122)	128			BPTI/Kunitz inhibitor.		E1P623|Q5TDV2|Q96A34	Silent	SNP	ENST00000357199.4	37	c.384C>T	CCDS13361.1																																																																																				0.468	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			A	44184401	G	A	44184401	2	1	158	1	0	0	0	0	0	0	0	1	17353	1079	38	1		1	WFDC8	20	44184401	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	26233892	44184401	18841119	56	11156											
MC3R	4159	broad.mit.edu	37	chr20	54824279	54824279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgactccatgatctgcatctCcctggtggcctccatctgca	6	11	8	16	1	3	1	0	1	3	0	6	2	5	1	4	2	2	2	4	2	0	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:54824279C>T	ENST00000243911.2	+	1	492	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	127					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTGCATCTCCCTGGTGGCC	0.557																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(379-381)tCc>tTc		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							155	124	134					20																	54824279		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824279C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.380C>T	20.37:g.54824279C>T	ENSP00000243911:p.Ser127Phe						p.S127F	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	492	+			164					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.380C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428051	0.83667	.	.	ENSG00000124089	ENST00000243911	T	0.30714	1.52	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000006	T	0.60766	0.2294	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67948	-0.5538	10	0.87932	D	0	.	17.857	0.88767	0.0:1.0:0.0:0.0	.	164	P41968	MC3R_HUMAN	F	127	ENSP00000243911:S127F	ENSP00000243911:S127F	S	+	2	0	MC3R	54257686	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.624000	0.83124	2.287000	0.76781	0.650000	0.86243	TCC		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824279	C	T	54824279	3	4	158	1	0	0	0	0	1	0	0	0	9365	855	30	3	382	3	MC3R	20	54824279	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	10639878	54824279	8201241	57	11157											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatataacataatggtgagaCgtagctgggtatgaagcaag	16	9	12	4	1	0	2	0	2	0	1	0	3	0	2	0	2	3	4	0	2	8	5	rs200135144		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418																																						uc002ynv.3																			0		p.V188V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(562-564)Gtc>Atc		Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.							130	126	127					21																	31654689		1872	4106	5978	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654689C>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	21.37:g.31654689C>T	ENSP00000339238:p.Val188Ile						p.V188I	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			0	588	-			188					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.562G>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC		0.418	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		T	31654689	C	T	31654689	3	4	158	1	0	0	0	0	1	0	0	0	8542	536	19	1	206	1	KRTAP24-1	21	31654689	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		31654689	16475206	58	11158											
PRDM15	63977	broad.mit.edu	37	chr21	43281674	43281674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccccaactgtgcgcaccgGcatgtccttcctgcaacctg	7	9	8	17	2	0	0	0	0	0	0	3	0	3	0	6	1	4	3	6	1	2	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:43281674G>A	ENST00000269844.3	-	7	999	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000447207.2_5'Flank	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCGCACCGGCATGTCCTTC	0.532																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(889-891)Ccg>Tcg		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							96	80	85					21																	43281674		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43281674G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.889C>T	21.37:g.43281674G>A	ENSP00000269844:p.Pro297Ser					PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	p.P297S	NM_022115	NP_071398	P57071	PRD15_HUMAN			6	1000	-			297					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.889C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476265	0.12521	.	.	ENSG00000141956	ENST00000269844	T	0.07114	3.22	1.61	0.708	0.18144	.	.	.	.	.	T	0.05502	0.0145	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.37957	-0.9683	9	0.72032	D	0.01	.	4.1943	0.10437	0.2167:0.0:0.7833:0.0	.	297	P57071	PRD15_HUMAN	S	297	ENSP00000269844:P297S	ENSP00000269844:P297S	P	-	1	0	PRDM15	42154743	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.397000	0.20883	0.268000	0.21939	0.561000	0.74099	CCG		0.532	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43281674	G	A	43281674	3	1	158	1	0	0	0	0	1	0	0	0	12456	1203	42	3	3734	3	PRDM15	21	43281674	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	11626985	43281674	4848221	59	11159											
COL6A2	1292	broad.mit.edu	37	chr21	47546138	47546138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcgatgacatggaggaCgtcctctgcccgggtgagcg	7	9	14	11	4	2	2	1	2	1	0	4	5	3	4	2	3	2	0	2	3	0	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:47546138C>T	ENST00000300527.4	+	26	2513	c.2409C>T	c.(2407-2409)gaC>gaT	p.D803D	COL6A2_ENST00000357838.4_Silent_p.D803D|COL6A2_ENST00000310645.5_Silent_p.D803D|COL6A2_ENST00000409416.1_Silent_p.D803D|COL6A2_ENST00000397763.1_Silent_p.D803D	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	803	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATGGAGGACGTCCTCTGCC	0.647																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2407-2409)gaC>gaT		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							136	136	136					21																	47546138		2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546138C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2409C>T	21.37:g.47546138C>T						COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc010gqe.2_5'Flank	p.D803D	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	25	2491	+	Breast(49;0.245)		803			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2409C>T	CCDS13728.1																																																																																				0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47546138	C	T	47546138	2	4	158	1	0	0	0	0	0	0	0	1	3700	535	19	1		1	COL6A2	21	47546138	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	4264464	47546138	583757	60	11160											
RIMBP3	85376	broad.mit.edu	37	chr22	20458331	20458331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgggagccatacggagcaCccctttggtccccagaaggg	9	6	13	13	1	0	1	0	0	0	1	1	3	1	3	5	4	3	1	5	4	2	2	rs571676241		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:20458331C>G	ENST00000426804.1	-	1	3455	c.2971G>C	c.(2971-2973)Gtg>Ctg	p.V991L	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	991										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATACGGAGCACCCCTTTGGTC	0.602													c|||	1	0.000199681	0	0	5008	,	,		23014	0		0.001	False		,,,				2504	0					uc002zsd.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2971-2973)Gtg>Ctg		Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.							2	3	3					22																	20458331		1225	2960	4185	SO:0001583	missense	85376							g.chr22:20458331C>G	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2971G>C	22.37:g.20458331C>G	ENSP00000391564:p.Val991Leu					RN7SK_uc021wlw.1_5'Flank	p.V991L	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		0	3456	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2971G>C	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	9.087	1.000837	0.19121	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.21734	1.99	3.56	-1.96	0.07525	Fibronectin, type III (1);	0.851634	0.09877	N	0.744171	T	0.12689	0.0308	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31586	-0.9938	10	0.34782	T	0.22	0.0559	6.1469	0.20291	0.433:0.2359:0.3311:0.0	.	897	Q9UFD9	RIM3A_HUMAN	L	897;991	ENSP00000391564:V991L	ENSP00000347318:V897L	V	-	1	0	RIMBP3	18838331	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.106000	0.10890	-0.048000	0.13401	0.398000	0.26397	GTG		0.602	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		G	20458331	C	G	20458331	3	3	158	1	0	0	0	0	1	0	0	0	13364	507	18	5	1952	5	RIMBP3	22	20458331	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		20458331	30846235	61	11161											
PISD	23761	broad.mit.edu	37	chr22	32017352	32017352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcctctgtgcacataCgcgggcccaggaacgactcc	8	6	12	15	3	1	0	0	0	1	0	3	2	3	1	3	3	3	2	3	3	2	1	rs199747774		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:32017352C>T	ENST00000439502.2	-	5	888	c.665G>A	c.(664-666)cGt>cAt	p.R222H	PISD_ENST00000266095.5_Missense_Mutation_p.R188H|PISD_ENST00000382151.2_Missense_Mutation_p.R188H|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000336566.4_Missense_Mutation_p.R221H|PISD_ENST00000397500.1_Missense_Mutation_p.R188H			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	222					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTGCACATACGCGGGCCCAG	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003alm.4																			0				central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(664-666)cGt>cAt		Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	Phosphatidylserine(DB00144)						82	78	80					22																	32017352		2203	4300	6503	SO:0001583	missense	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32017352C>T		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.665G>A	22.37:g.32017352C>T	ENSP00000391739:p.Arg222His		OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc011alr.1_Missense_Mutation_p.R188H	p.R222H	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			4	723	-			222					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.665G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.709641|2.709641	0.48517|0.48517	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020|ENST00000435900	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.106594|.	0.64402|.	D|.	0.000003|.	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.05031|0.05031	-0.125|-0.125	0.51233|0.51233	D|D	0.99991|0.99991	B;B;B;B|.	0.19817|.	0.034;0.039;0.016;0.003|.	B;B;B;B|.	0.22386|.	0.039;0.038;0.01;0.005|.	T|T	0.24297|0.24297	-1.0164|-1.0164	9|5	0.41790|.	T|.	0.15|.	-28.1847|-28.1847	11.7396|11.7396	0.51786|0.51786	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	212;222;188;188|.	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2|.	.;PISD_HUMAN;.;.|.	H|I	188;188;188;222;221;188;188|213	.|.	ENSP00000266095:R188H|.	R|V	-|-	2|1	0|0	PISD|PISD	30347352|30347352	.|.	.|.	0.108000|0.108000	0.21378|0.21378	0.043000|0.043000	0.13939|0.13939	.|.	.|.	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	CGT|GTA		0.627	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			T	32017352	C	T	32017352	3	4	158	1	0	0	0	0	1	0	0	0	11946	536	19	1	580	1	PISD	22	32017352	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	11559021	32017352	19287214	62	11162											
PLCXD1	55344	broad.mit.edu	37	chrX	215977	215977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagtgacgtcatcgcgcTcaatcagaagctgctgtggt	8	10	12	11	4	4	2	4	1	0	1	5	2	4	2	0	1	2	3	0	1	2	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:215977T>C	ENST00000381657.2	+	7	1461	c.947T>C	c.(946-948)cTc>cCc	p.L316P	PLCXD1_ENST00000399012.1_Missense_Mutation_p.L316P|PLCXD1_ENST00000381663.3_Missense_Mutation_p.L316P	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	316					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCATCGCGCTCAATCAGAAG	0.602																																						uc004cpc.3																			0		p.L316L(1)		endometrium(3)|large_intestine(1)|lung(7)	11						c.(946-948)cTc>cCc		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.							84	75	78					X																	215977		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215977T>C	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.947T>C	X.37:g.215977T>C	ENSP00000371073:p.Leu316Pro					PLCXD1_uc011mgx.2_Non-coding_Transcript	p.L316P	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			6	1259	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	316					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.947T>C	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	11.51	1.658833	0.29515	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	.	.	.	1.77	1.77	0.24775	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.64402	D	0.000001	T	0.55862	0.1947	.	.	.	0.23972	N	0.996303	D	0.89917	1.0	D	0.91635	0.999	T	0.38520	-0.9657	8	0.44086	T	0.13	-32.3693	8.048	0.30562	0.0:0.0:0.0:1.0	.	316	Q9NUJ7	PLCX1_HUMAN	P	316	.	ENSP00000371073:L316P	L	+	2	0	PLCXD1	155977	1.000000	0.71417	0.661000	0.29709	0.018000	0.09664	4.999000	0.63934	0.762000	0.33152	0.151000	0.16131	CTC		0.602	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		C	215977	T	C	215977	3	2	158	1	0	0	0	0	1	0	0	0	12041	1551	54	4	969	4	PLCXD1	23	215977	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		215977	155054583	63	11163											
WWC3	55841	broad.mit.edu	37	chrX	10096087	10096087	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgagatgcagctgcgctgGcattccgtgcaggtgttcac	7	10	14	10	2	1	1	1	1	0	1	2	2	2	1	1	2	4	6	1	2	0	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:10096087G>A	ENST00000380861.4	+	16	2557	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.W722*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	722					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562																																						uc004csx.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2164-2166)tgG>tgA		Homo sapiens WWC family member 3 (WWC3), mRNA.							102	91	95					X																	10096087		2203	4300	6503	SO:0001587	stop_gained	55841							g.chrX:10096087G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2166G>A	X.37:g.10096087G>A	ENSP00000370242:p.Trp722*					WWC3_uc010nds.3_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.3_Non-coding_Transcript	p.W722*	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			15	2364	+			722					A8KA96|Q659C1|Q9BTQ1	Nonsense_Mutation	SNP	ENST00000380861.4	37	c.2166G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	43	10.499865	0.99416	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.1889	19.1732	0.93588	0.0:0.0:1.0:0.0	.	.	.	.	X	722;722;217	.	.	W	+	3	0	WWC3	10056087	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	7.965000	0.87945	2.479000	0.83701	0.600000	0.82982	TGG		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		A	10096087	G	A	10096087	4	1	158	1	0	0	0	0	0	1	0	0	17410	1212	42	3	2224	3	WWC3	23	10096087	Nonsense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	9880110	10096087	145174473	64	11164											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						uc004czg.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(319-321)gGc>gAc		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						102	94	97					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_uc004czh.4_Missense_Mutation_p.G145D|PDHA1_uc011mjc.2_Missense_Mutation_p.G114D|PDHA1_uc011mjd.2_Missense_Mutation_p.G107D	p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN			3	465	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.320G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			A	19369427	G	A	19369427	3	1	158	1	0	0	0	0	1	0	0	0	11664	1203	42	3	473	3	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	9273340	19369427	135901133	65	11165											
CCNB3	85417	broad.mit.edu	37	chrX	50051674	50051674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacccactattgaggatGaaacccttatcaataagtca	16	9	7	9	0	2	2	2	2	0	0	2	4	2	4	2	2	2	0	2	2	6	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:50051674G>A	ENST00000376042.1	+	6	803	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CCNB3_ENST00000276014.7_Missense_Mutation_p.E169K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	169					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATTGAGGATGAAACCCTTAT	0.433																																						uc004dox.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(505-507)Gaa>Aaa		Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.							99	88	91					X																	50051674		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051674G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.505G>A	X.37:g.50051674G>A	ENSP00000365210:p.Glu169Lys					CCNB3_uc004doy.3_Missense_Mutation_p.E169K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	p.E169K	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			5	803	+	Ovarian(276;0.236)		169					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.505G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	g	9.283	1.048710	0.19827	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.17528	2.27;2.27	3.56	-3.68	0.04463	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	8	.	.	.	.	1.033	0.01542	0.3057:0.1763:0.3436:0.1744	.	169	Q8WWL7	CCNB3_HUMAN	K	169	ENSP00000365210:E169K;ENSP00000276014:E169K	.	E	+	1	0	CCNB3	50068414	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.069000	0.14552	-0.978000	0.03533	-1.231000	0.01572	GAA		0.433	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50051674	G	A	50051674	3	1	158	1	0	0	0	0	1	0	0	0	2914	1291	45	3	519	3	CCNB3	23	50051674	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	30682247	50051674	105218886	66	11166											
TBX22	50945	broad.mit.edu	37	chrX	79281244	79281244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctttgatcgcatgaaaCtcaccaacaatgagatggat	14	10	8	9	1	2	3	2	3	0	1	3	5	2	4	1	1	3	2	1	1	3	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:79281244C>G	ENST00000373294.5	+	4	629	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	TBX22_ENST00000442340.1_Missense_Mutation_p.L81V|TBX22_ENST00000373296.3_Missense_Mutation_p.L201V|TBX22_ENST00000373291.1_Missense_Mutation_p.L81V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	201					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L201I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537																																						uc010nmg.1																			1	Substitution - Missense(1)	p.L201I(2)	ovary(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(601-603)Ctc>Gtc		Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.							105	68	80					X																	79281244		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281244C>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.601C>G	X.37:g.79281244C>G	ENSP00000362390:p.Leu201Val					TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	p.L201V	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN			4	735	+			201					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.601C>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022760	0.75275	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.96125	0.8737	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97165	0.9840	10	0.87932	D	0	.	15.4757	0.75478	0.0:1.0:0.0:0.0	.	201	Q9Y458	TBX22_HUMAN	V	201;81;201;81	ENSP00000362393:L201V;ENSP00000396394:L81V;ENSP00000362390:L201V;ENSP00000362388:L81V	ENSP00000362388:L81V	L	+	1	0	TBX22	79167900	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	5.619000	0.67729	1.948000	0.56530	0.600000	0.82982	CTC		0.537	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		G	79281244	C	G	79281244	3	3	158	1	0	0	0	0	1	0	0	0	15655	565	20	5	615	5	TBX22	23	79281244	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	29229570	79281244	75989316	67	11167											
ATP11C	286410	broad.mit.edu	37	chrX	138897124	138897124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcattgtcagctctgtgTctcagacaatcctcatatcc	9	14	5	13	0	5	1	4	0	2	1	8	1	7	1	2	0	1	1	2	0	2	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:138897124T>A	ENST00000327569.3	-	5	446	c.348A>T	c.(346-348)agA>agT	p.R116S	ATP11C_ENST00000359686.2_Missense_Mutation_p.R116S|ATP11C_ENST00000370543.1_Missense_Mutation_p.R116S|ATP11C_ENST00000361648.2_Missense_Mutation_p.R116S|ATP11C_ENST00000370557.1_Missense_Mutation_p.R113S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	116					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGCTCTGTGTCTCAGACAAT	0.303																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(346-348)agA>agT		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							89	77	81					X																	138897124		2202	4296	6498	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138897124T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.348A>T	X.37:g.138897124T>A	ENSP00000332756:p.Arg116Ser					ATP11C_uc004fba.3_Missense_Mutation_p.R116S	p.R116S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			4	447	-	Acute lymphoblastic leukemia(192;0.000127)		116					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.348A>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525083	0.64747	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	4.29	1.66	0.24008	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	H	0.97682	4.055	0.43152	D	0.994922	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90720	0.4634	10	0.87932	D	0	.	6.1097	0.20094	0.0:0.3652:0.0:0.6348	.	116;116	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	S	113;116;116;116;116	ENSP00000359588:R113S;ENSP00000355165:R116S;ENSP00000332756:R116S;ENSP00000359574:R116S;ENSP00000352715:R116S	ENSP00000332756:R116S	R	-	3	2	ATP11C	138724790	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.763000	0.26517	0.128000	0.18479	0.393000	0.25936	AGA		0.303	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138897124	T	A	138897124	3	1	158	1	0	0	0	0	1	0	0	0	1121	1664	58	5	3217	5	ATP11C	23	138897124	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	59615880	138897124	16373436	68	11168											
DNAJB4	11080	broad.mit.edu	37	chr1	78470832	78470832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcattttgggaattgagaAaggagcttcagatgaagata	14	12	12	3	0	1	4	1	2	0	3	1	7	1	6	0	2	2	2	0	2	4	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:78470832A>G	ENST00000370763.5	+	1	295	c.38A>G	c.(37-39)aAa>aGa	p.K13R	GIPC2_ENST00000476882.1_Intron|RP11-386I14.4_ENST00000608684.1_RNA|DNAJB4_ENST00000487931.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	13	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAATTGAGAAAGGAGCTTCA	0.368																																						uc001dij.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(37-39)aAa>aGa		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.							100	112	108					1																	78470832		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78470832A>G	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.38A>G	1.37:g.78470832A>G	ENSP00000359799:p.Lys13Arg					DNAJB4_uc010orn.2_Intron	p.K13R	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			0	197	+			13			J.		B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.38A>G	CCDS684.1	.	.	.	.	.	.	.	.	.	.	A	7.219	0.597063	0.13875	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.29142	1.58;1.58	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	N	0.00980	-1.08	0.80722	D	1	B	0.17465	0.022	B	0.26864	0.074	T	0.31861	-0.9928	10	0.02654	T	1	.	16.1885	0.81971	1.0:0.0:0.0:0.0	.	13	Q9UDY4	DNJB4_HUMAN	R	13	ENSP00000399494:K13R;ENSP00000359799:K13R	ENSP00000359799:K13R	K	+	2	0	DNAJB4	78243420	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.952000	0.70282	2.213000	0.71641	0.528000	0.53228	AAA		0.368	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			G	78470832	A	G	78470832	3	3	159	1	0	0	0	0	1	0	0	0	4622	14	1	4	40	4	DNAJB4	1	78470832	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08		78470832	170779789	1	11169											
ODF2L	57489	broad.mit.edu	37	chr1	86822223	86822223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaagcctccgttccgcCgccgtcaaggaatcgcagac	8	7	11	15	6	1	2	1	1	0	1	5	3	3	3	5	1	1	2	5	1	3	1	rs372029682		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:86822223C>T	ENST00000359242.3	-	14	1703	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	ODF2L_ENST00000394731.1_Silent_p.A314A|ODF2L_ENST00000294678.2_Silent_p.A445A|ODF2L_ENST00000370566.3_Intron|ODF2L_ENST00000317336.7_Silent_p.A474A|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370567.1_Silent_p.A445A	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	474						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCCGTTCCGCCGCCGTCAAGG	0.547																																						uc001dll.2																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1420-1422)gcG>gcA		Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.		C	,,,	0,4406		0,0,2203	77	70	72		1422,,,1335	-3.9	0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,coding-synonymous	ODF2L	NM_001007022.2,NM_001184765.1,NM_001184766.1,NM_020729.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	474/637,,,445/621	86822223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57489					centrosome		g.chr1:86822223C>T		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1422G>A	1.37:g.86822223C>T						ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Silent_p.A445A	p.A474A	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	13	1784	-			474					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Silent	SNP	ENST00000359242.3	37	c.1422G>A	CCDS41354.2																																																																																				0.547	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			T	86822223	C	T	86822223	2	4	159	1	0	0	0	0	0	0	0	1	10828	639	23	2		2	ODF2L	1	86822223	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	8351391	86822223	162428398	2	11170											
ZNF644	84146	broad.mit.edu	37	chr1	91403294	91403296	+	In_Frame_Del	DEL	CTT	CTT	-																															ttcatttaagaaattcagccCttcttcttctgatgcagaca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:91403294_91403296delCTT	ENST00000370440.1	-	4	3651_3653	c.3434_3436delAAG	c.(3433-3438)gaaggg>ggg	p.E1145del	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_In_Frame_Del_p.E1145del			Q9H582	ZN644_HUMAN	zinc finger protein 644	1145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAATTCAGCCCTTCTTCTTCTGA	0.365																																						uc001dnw.3																			0		p.E1144K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3433-3438)gaaggg>ggg		Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403294_91403296delCTT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3434_3436delAAG	1.37:g.91403300_91403302delCTT	ENSP00000359469:p.Glu1145del					ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron	p.E1145del	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	3717_3719	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1145					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	In_Frame_Del	DEL	ENST00000370440.1	37	c.3434_3436delAAG	CCDS731.1																																																																																				0.365	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		-	91403296	CTT	-	91403294	7	5	159	1	0	1	0	1	0	0	0	0	18057	681	24	0	559	0	ZNF644	1	91403294	In_Frame_Del	DEL	CTT	TCGA-19-2629-01A-01D-1495-08	4581071	91403294	157847327	3	11171											
TMED5	50999	broad.mit.edu	37	chr1	93620253	93620256	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															tctacttttcctcttatcttCaaacagactcttcagcatat																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:93620253_93620256delCAAA	ENST00000370282.3	-	4	1146_1149	c.661_664delTTTG	c.(661-666)tttgaafs	p.FE221fs	TMED5_ENST00000479918.1_3'UTR|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	221					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTCTTATCTTCAAACAGACTCTTC	0.348																																						uc001dpn.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(661-666)tttgaafs		Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93620253_93620256delCAAA	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.661_664delTTTG	1.37:g.93620253_93620256delCAAA	ENSP00000359305:p.Phe221fs					TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_3'UTR	p.F221fs	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	3	1108_1111	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	221					B1AKT4|B2R703|D3DT38|Q96AX8	Frame_Shift_Del	DEL	ENST00000370282.3	37	c.661_664delTTTG	CCDS743.1																																																																																				0.348	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		-	93620256	CAAA	-	93620253	7	5	159	1	0	1	0	1	0	0	0	0	16004	835	29	0	29	0	TMED5	1	93620253	Frame_Shift_Del	DEL	CAAA	TCGA-19-2629-01A-01D-1495-08	2216959	93620253	155630368	4	11172											
SSR2	6746	broad.mit.edu	37	chr1	155989853	155989853	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtcaggtctcgtccctCcacggcgtatctgttcagca	7	10	10	14	3	4	0	2	0	2	0	7	0	6	0	2	3	1	3	2	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:155989853C>A	ENST00000295702.4	-	2	177	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SSR2_ENST00000496742.1_Nonsense_Mutation_p.E36*|SSR2_ENST00000529008.1_Nonsense_Mutation_p.E36*|SSR2_ENST00000480567.1_Nonsense_Mutation_p.E36*	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	36					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCGTCCCTCCACGGCGTAT	0.483																																						uc001fmx.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10						c.(106-108)Gag>Tag		Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.							120	110	114					1																	155989853		2203	4300	6503	SO:0001587	stop_gained	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155989853C>A	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.106G>T	1.37:g.155989853C>A	ENSP00000295702:p.Glu36*					SSR2_uc010pgw.2_Nonsense_Mutation_p.E55*	p.E36*	NM_003145	NP_003136	P43308	SSRB_HUMAN			1	186	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		36					B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Nonsense_Mutation	SNP	ENST00000295702.4	37	c.106G>T	CCDS1126.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863481	0.91511	.	.	ENSG00000163479	ENST00000295702;ENST00000529008;ENST00000496742;ENST00000480567;ENST00000531917;ENST00000526212	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-17.9018	15.9945	0.80230	0.0:1.0:0.0:0.0	.	.	.	.	X	36	.	ENSP00000295702:E36X	E	-	1	0	SSR2	154256477	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.294000	0.78760	2.346000	0.79739	0.430000	0.28490	GAG		0.483	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		A	155989853	C	A	155989853	4	1	159	1	0	0	0	0	0	1	0	0	15190	864	30	5	465	5	SSR2	1	155989853	Nonsense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	62369600	155989853	93260768	5	11173											
OR6K2	81448	broad.mit.edu	37	chr1	158670186	158670186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaatgctcctctcactaAgcaggctagacagcatcttt	12	10	8	11	0	2	1	1	0	2	1	4	2	3	2	1	2	3	4	1	2	3	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:158670186A>G	ENST00000359610.2	-	1	300	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTCTCACTAAGCAGGCTAGA	0.458																																						uc001fsu.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(256-258)cTt>cCt		Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.							100	95	97					1																	158670186		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670186A>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.257T>C	1.37:g.158670186A>G	ENSP00000352626:p.Leu86Pro						p.L86P	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			0	257	-	all_hematologic(112;0.0378)		86					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.257T>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841091	0.71488	.	.	ENSG00000196171	ENST00000359610	T	0.00542	6.69	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	N	0.002113	T	0.01222	0.0040	M	0.90595	3.13	0.80722	D	1	D	0.58970	0.984	P	0.56916	0.809	T	0.49969	-0.8882	10	0.87932	D	0	-13.1354	13.7372	0.62824	1.0:0.0:0.0:0.0	.	86	Q8NGY2	OR6K2_HUMAN	P	86	ENSP00000352626:L86P	ENSP00000352626:L86P	L	-	2	0	OR6K2	156936810	0.806000	0.28996	0.891000	0.34965	0.774000	0.43823	4.151000	0.58105	2.050000	0.60909	0.533000	0.62120	CTT		0.458	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		G	158670186	A	G	158670186	3	3	159	1	0	0	0	0	1	0	0	0	11202	72	3	4	721	4	OR6K2	1	158670186	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	2680333	158670186	90580435	6	11174											
NDUFS2	4720	broad.mit.edu	37	chr1	161182256	161182256	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgtctccacctaagCgagcagagatgaaggttggc	12	7	12	10	1	1	2	0	1	1	1	2	4	1	2	3	2	2	2	3	2	3	2	rs534026057		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:161182256C>T	ENST00000367993.3	+	11	1550	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	NDUFS2_ENST00000465923.1_3'UTR|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000392179.4_Nonsense_Mutation_p.R368*|FCER1G_ENST00000289902.1_5'Flank	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	368					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TCCACCTAAGCGAGCAGAGAT	0.527													C|||	1	0.000199681	0	0	5008	,	,		18918	0		0.001	False		,,,				2504	0					uc001fyv.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(1102-1104)Cga>Tga		Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						77	66	69					1																	161182256		2203	4300	6503	SO:0001587	stop_gained	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161182256C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1102C>T	1.37:g.161182256C>T	ENSP00000356972:p.Arg368*					NDUFS2_uc001fyw.3_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.R317*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	p.R368*	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		10	1550	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		368					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Nonsense_Mutation	SNP	ENST00000367993.3	37	c.1102C>T	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	C	39	7.865975	0.98534	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2259	0.48884	0.2954:0.7046:0.0:0.0	.	.	.	.	X	368	.	ENSP00000356972:R368X	R	+	1	2	NDUFS2	159448880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.438000	0.52871	2.412000	0.81896	0.650000	0.86243	CGA		0.527	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		T	161182256	C	T	161182256	4	4	159	1	0	0	0	0	0	1	0	0	10292	760	27	1	1140	1	NDUFS2	1	161182256	Nonsense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	2512070	161182256	88068365	7	11175											
NOS1AP	9722	broad.mit.edu	37	chr1	162257211	162257213	+	In_Frame_Del	DEL	GAA	GAA	-																															gatggagtgaaagtgattctGaagaagaagaaaaaggtaag																								rs530021849		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:162257211_162257213delGAA	ENST00000361897.5	+	3	657_659	c.255_257delGAA	c.(253-258)ctgaag>ctg	p.K90del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.K92del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	90	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGTGATTCTGAAGAAGAAGAAA	0.433																																						uc001gbv.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(253-258)ctgaag>ctg		Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162257211_162257213delGAA	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.255_257delGAA	1.37:g.162257220_162257222delGAA	ENSP00000355133:p.Lys90del					NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_Non-coding_Transcript	p.K90del	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		2	642_644	+	all_hematologic(112;0.203)		90			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.255_257delGAA	CCDS1237.1																																																																																				0.433	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		-	162257213	GAA	-	162257211	7	5	159	1	0	1	0	1	0	0	0	0	10542	1277	45	0	265	0	NOS1AP	1	162257211	In_Frame_Del	DEL	GAA	TCGA-19-2629-01A-01D-1495-08	1074955	162257211	86993410	8	11176											
TNNT2	7139	broad.mit.edu	37	chr1	201331099	201331101	+	In_Frame_Del	DEL	TCT	TCT	-																															cttcctcctctcagccagaaTcttcttcttcttttcccgct																								rs121964859|rs190805300|rs45578238		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:201331099_201331101delTCT	ENST00000509001.1	-	13	915_917	c.629_631delAGA	c.(628-633)aagatt>att	p.K210del	TNNT2_ENST00000367320.2_In_Frame_Del_p.K177del|TNNT2_ENST00000236918.7_In_Frame_Del_p.K215del|TNNT2_ENST00000367322.1_In_Frame_Del_p.K207del|TNNT2_ENST00000367315.2_In_Frame_Del_p.K207del|TNNT2_ENST00000367317.4_In_Frame_Del_p.K210del|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000458432.2_In_Frame_Del_p.K219del|TNNT2_ENST00000360372.4_In_Frame_Del_p.K205del|TNNT2_ENST00000421663.2_In_Frame_Del_p.K213del|TNNT2_ENST00000367318.5_In_Frame_Del_p.K210del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	220			Missing (in CMD1D). {ECO:0000269|PubMed:11106718}.		ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCAGCCAGAATCTTCTTCTTCTT	0.576											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gwf.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20	GRCh37	CD003106	TNNT2	D	rs45578238	c.(649-654)aagatt>att		Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201331099_201331101delTCT	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.629_631delAGA	1.37:g.201331108_201331110delTCT	ENSP00000422031:p.Lys210del		OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2121	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_In_Frame_Del_p.K210del|TNNT2_uc001gwg.3_In_Frame_Del_p.K207del|TNNT2_uc001gwh.3_In_Frame_Del_p.K198del|TNNT2_uc001gwi.3_In_Frame_Del_p.K177del|TNNT2_uc009wzr.3_In_Frame_Del_p.K148del	p.K217del	NM_000364	NP_000355	P45379	TNNT2_HUMAN			12	719_721	-			220					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	In_Frame_Del	DEL	ENST00000509001.1	37	c.650_652delAGA	CCDS30969.1																																																																																				0.576	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		-	201331101	TCT	-	201331099	7	5	159	1	0	1	0	1	0	0	0	0	16328	1435	50	0	251	0	TNNT2	1	201331099	In_Frame_Del	DEL	TCT	TCGA-19-2629-01A-01D-1495-08	39073888	201331099	47919522	9	11177											
KIDINS220	57498	broad.mit.edu	37	chr2	8872006	8872006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagcaatgtattctctaTaggcatctctatactcggcc	9	14	7	11	1	3	1	0	1	3	0	6	1	3	1	1	2	2	3	1	2	6	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:8872006T>C	ENST00000256707.3	-	30	4341	c.4160A>G	c.(4159-4161)tAt>tGt	p.Y1387C	KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y1368C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y1288C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y1368C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1387					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTATTCTCTATAGGCATCTCT	0.463																																						uc002qzc.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4159-4161)tAt>tGt		Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.							108	105	106					2																	8872006		1848	4100	5948	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8872006T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4160A>G	2.37:g.8872006T>C	ENSP00000256707:p.Tyr1387Cys					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	p.Y1387C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			29	4342	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1387					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4160A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163535	0.78226	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.81247	-1.39;-1.41;-1.47;-1.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.85630	0.5741	L	0.36672	1.1	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87188	0.2232	10	0.87932	D	0	.	16.2644	0.82568	0.0:0.0:0.0:1.0	.	1288;1387;241	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	C	1387;1368;1288;1368	ENSP00000256707:Y1387C;ENSP00000411849:Y1368C;ENSP00000414923:Y1288C;ENSP00000418974:Y1368C	ENSP00000256707:Y1387C	Y	-	2	0	KIDINS220	8789457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.499000	0.81566	2.244000	0.73946	0.528000	0.53228	TAT		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		C	8872006	T	C	8872006	3	2	159	1	0	0	0	0	1	0	0	0	8271	1406	49	4	1159	4	KIDINS220	2	8872006	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08		8872006	234327367	10	11178											
DPYSL5	56896	broad.mit.edu	37	chr2	27165614	27165616	+	In_Frame_Del	DEL	AGA	AGA	-																															caagaagctggtccagagagAgaaggtgaggtgggaggagg																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27165614_27165616delAGA	ENST00000288699.6	+	11	1594_1596	c.1436_1438delAGA	c.(1435-1440)gagaag>gag	p.K480del	DPYSL5_ENST00000401478.1_In_Frame_Del_p.K480del	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	480					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGAGAGAGAAGGTGAGGTG	0.557											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rhu.4																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1435-1440)gagaag>gag		Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165614_27165616delAGA	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1436_1438delAGA	2.37:g.27165614_27165616delAGA	ENSP00000288699:p.Lys480del		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_uc002rhv.4_In_Frame_Del_p.K480del|DPYSL5_uc021vev.1_In_Frame_Del_p.K480del	p.K480del	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			10	1594_1596	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		480					Q8TCL6|Q9NQC4|Q9NRY9	In_Frame_Del	DEL	ENST00000288699.6	37	c.1436_1438delAGA	CCDS1730.1																																																																																				0.557	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		-	27165616	AGA	-	27165614	7	5	159	1	0	1	0	1	0	0	0	0	4750	304	11	0	1474	0	DPYSL5	2	27165614	In_Frame_Del	DEL	AGA	TCGA-19-2629-01A-01D-1495-08	18293608	27165614	216033759	11	11179											
TMEM214	54867	broad.mit.edu	37	chr2	27258019	27258019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggatgtggcagaccTgcagaaggaactggacaaga	13	5	15	8	0	0	3	0	0	0	3	0	6	0	6	1	4	3	4	1	4	3	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27258019T>A	ENST00000238788.9	+	3	430	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.L123Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	123					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCAGACCTGCAGAAGGAA	0.537																																						uc002ria.4																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(367-369)cTg>cAg		Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.							68	69	69					2																	27258019		1992	4190	6182	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27258019T>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.368T>A	2.37:g.27258019T>A	ENSP00000238788:p.Leu123Gln					TMEM214_uc002rib.4_Missense_Mutation_p.L123Q	p.L123Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			2	478	+			123					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.368T>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756308	0.89843	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.87334	-2.24;-2.24	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	D	0.92535	0.7629	M	0.65498	2.005	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.99	D	0.93326	0.6697	10	0.87932	D	0	-8.5843	15.3575	0.74440	0.0:0.0:0.0:1.0	.	123;123	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	Q	123	ENSP00000238788:L123Q;ENSP00000384417:L123Q	ENSP00000238788:L123Q	L	+	2	0	TMEM214	27111523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.292000	0.78731	2.107000	0.64212	0.459000	0.35465	CTG		0.537	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		A	27258019	T	A	27258019	3	1	159	1	0	0	0	0	1	0	0	0	16134	1580	55	5	378	5	TMEM214	2	27258019	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	92405	27258019	215941354	12	11180											
FAM176A	84141	broad.mit.edu	37	chr2	75745200	75745200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgagacaaaggaataggCcgctaggatgttgctgagca	13	7	13	8	1	0	2	0	2	0	1	0	5	0	4	2	3	2	4	2	3	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:75745200C>A	ENST00000233712.1	-	3	504	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	EVA1A_ENST00000393913.3_Missense_Mutation_p.A23S|EVA1A_ENST00000410113.1_Missense_Mutation_p.A23S|EVA1A_ENST00000410071.1_Missense_Mutation_p.A23S|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000490746.1_5'UTR	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	23	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											AAGGAATAGGCCGCTAGGATG	0.612																																						uc002sni.2																			0				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						c.(67-69)Gcc>Tcc		Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.							116	104	108					2																	75745200		2203	4300	6503	SO:0001583	missense	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75745200C>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.67G>T	2.37:g.75745200C>A	ENSP00000233712:p.Ala23Ser					FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	p.A23S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN			2	545	-			23			Necessary for the localization and biological activity.		D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.67G>T	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743513	0.30865	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.11	2.21	0.28008	.	0.250459	0.45867	D	0.000334	T	0.41834	0.1176	M	0.68952	2.095	0.32965	D	0.521614	B	0.12013	0.005	B	0.12156	0.007	T	0.45527	-0.9255	10	0.51188	T	0.08	7.1197	6.6671	0.23047	0.0:0.6781:0.0:0.3219	.	23	Q9H8M9	F176A_HUMAN	S	23	ENSP00000377490:A23S;ENSP00000233712:A23S;ENSP00000386435:A23S;ENSP00000386930:A23S;ENSP00000398249:A23S;ENSP00000388105:A23S	ENSP00000233712:A23S	A	-	1	0	FAM176A	75598708	0.716000	0.27956	0.299000	0.25016	0.721000	0.41392	0.953000	0.29162	0.231000	0.21079	0.543000	0.68304	GCC		0.612	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		A	75745200	C	A	75745200	3	1	159	1	0	0	0	0	1	0	0	0	5499	739	26	5	399	5	FAM176A	2	75745200	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	48487181	75745200	167454173	13	11181											
SEPT10	151011	broad.mit.edu	37	chr2	110350668	110350668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgaagacatacaagttGttttcgttgccatgtgagac	10	14	10	7	1	0	3	0	2	0	2	1	4	0	3	1	0	2	3	1	0	3	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:110350668G>C	ENST00000397712.2	-	2	437	c.59C>G	c.(58-60)aCa>aGa	p.T20R	SEPT10_ENST00000356688.4_Missense_Mutation_p.T20R|SEPT10_ENST00000545389.1_Missense_Mutation_p.T20R|SEPT10_ENST00000334001.6_5'UTR|SEPT10_ENST00000415095.1_Missense_Mutation_p.T20R|SEPT10_ENST00000437928.1_Missense_Mutation_p.T5R|SEPT10_ENST00000397714.2_Intron|AC011753.5_ENST00000425576.1_RNA	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	20					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATACAAGTTGTTTTCGTTGC	0.323																																						uc002tey.3																			0		p.T19T(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.(58-60)aCa>aGa		Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.							123	118	119					2																	110350668		1865	4107	5972	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110350668G>C	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"Septins"	14349	protein-coding gene	gene with protein product	"sept1-like"	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.59C>G	2.37:g.110350668G>C	ENSP00000380824:p.Thr20Arg					SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tew.3_Missense_Mutation_p.T20R|SEPT10_uc002tex.3_Intron|SEPT10_uc010ywv.2_5'UTR	p.T20R	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			1	438	-			20					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.59C>G	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007854	0.19199	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000423520;ENST00000411469;ENST00000442746	T;T;T;T;T;T	0.56941	0.62;0.7;0.7;0.45;0.7;0.43	3.67	1.87	0.25490	.	0.660669	0.13414	N	0.389694	T	0.29458	0.0734	N	0.19112	0.55	0.09310	N	1	P;B;B	0.41041	0.736;0.294;0.17	B;B;B	0.33196	0.159;0.036;0.052	T	0.08638	-1.0712	10	0.41790	T	0.15	.	5.7735	0.18267	0.2436:0.0:0.7564:0.0	.	20;20;20	B7Z277;B5ME97;Q9P0V9	.;.;SEP10_HUMAN	R	20;20;5;20;20;20;5;11	ENSP00000349116:T20R;ENSP00000380824:T20R;ENSP00000407790:T5R;ENSP00000439364:T20R;ENSP00000396728:T20R;ENSP00000416597:T20R	ENSP00000349116:T20R	T	-	2	0	SEPT10	109707957	0.117000	0.22190	0.009000	0.14445	0.253000	0.25986	1.391000	0.34475	0.548000	0.28955	-0.136000	0.14681	ACA		0.323	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		C	110350668	G	C	110350668	3	2	159	1	0	0	0	0	1	0	0	0	14060	1377	48	5	1345	5	SEPT10	2	110350668	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	34605468	110350668	132848705	14	11182											
NEB	4703	broad.mit.edu	37	chr2	152518698	152518698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaccatgttcatcgagTccatgagtgtggaatacttc	12	11	8	10	1	1	1	1	1	0	0	4	3	2	2	3	1	2	1	3	1	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:152518698T>C	ENST00000172853.10	-	46	6068	c.5921A>G	c.(5920-5922)gAc>gGc	p.D1974G	NEB_ENST00000427231.2_Missense_Mutation_p.D1974G|NEB_ENST00000603639.1_Missense_Mutation_p.D1974G|NEB_ENST00000397345.3_Missense_Mutation_p.D1974G|NEB_ENST00000409198.1_Missense_Mutation_p.D1974G|NEB_ENST00000604864.1_Missense_Mutation_p.D1974G			P20929	NEBU_HUMAN	nebulin	1974					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTCATCGAGTCCATGAGTGT	0.413																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5920-5922)gAc>gGc		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.							108	104	106					2																	152518698		1918	4126	6044	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152518698T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5921A>G	2.37:g.152518698T>C	ENSP00000172853:p.Asp1974Gly					NEB_uc002txu.3_Missense_Mutation_p.D1974G|NEB_uc021vrc.1_Missense_Mutation_p.D1974G|NEB_uc010fnx.3_Missense_Mutation_p.D1974G|NEB_uc021vrd.1_Missense_Mutation_p.D1974G	p.D1974G	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	43	5950	-			1974					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5921A>G		.	.	.	.	.	.	.	.	.	.	T	28.8	4.953375	0.92660	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.87557	0.2469	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1974	P20929	NEBU_HUMAN	G	1974	ENSP00000386259:D1974G;ENSP00000380505:D1974G;ENSP00000416578:D1974G;ENSP00000172853:D1974G	ENSP00000172853:D1974G	D	-	2	0	NEB	152226944	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.986000	0.88173	2.367000	0.80283	0.528000	0.53228	GAC		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152518698	T	C	152518698	3	2	159	1	0	0	0	0	1	0	0	0	10302	1667	58	4	20313	4	NEB	2	152518698	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	42168030	152518698	90680675	15	11183											
LASS6	253782	broad.mit.edu	37	chr2	169404150	169404150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccctcaacattcaggccaAtggaccacaaattgctccgc	12	7	7	15	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	3	2	rs372014490		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:169404150A>G	ENST00000305747.6	+	2	802	c.215A>G	c.(214-216)aAt>aGt	p.N72S	CERS6_ENST00000392687.4_Missense_Mutation_p.N72S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	72					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ATTCAGGCCAATGGACCACAA	0.413																																						uc002uec.1																			0											c.(214-216)aAt>aGt		Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.		A	SER/ASN	0,4406		0,0,2203	104	87	93		215	-1	1	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	CERS6	NM_203463.1	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	72/385	169404150	1,13005	2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169404150A>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.215A>G	2.37:g.169404150A>G	ENSP00000306579:p.Asn72Ser					CERS6_uc002ueb.1_Missense_Mutation_p.N72S	p.N72S	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			1	339	+			72					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.215A>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	A	4.474	0.087774	0.08583	0.0	1.16E-4	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.21191	2.02;2.02	5.68	-1.04	0.10068	.	0.167448	0.64402	N	0.000004	T	0.06508	0.0167	N	0.03016	-0.435	0.54753	D	0.999982	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.42565	-0.9444	10	0.06891	T	0.86	-26.2634	10.8501	0.46765	0.5237:0.0:0.4763:0.0	.	72;72	Q32M63;Q6ZMG9	.;CERS6_HUMAN	S	72	ENSP00000306579:N72S;ENSP00000376453:N72S	ENSP00000306579:N72S	N	+	2	0	CERS6	169112396	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	0.887000	0.28254	-0.413000	0.07507	-0.911000	0.02809	AAT		0.413	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		G	169404150	A	G	169404150	3	3	159	1	0	0	0	0	1	0	0	0	8643	101	4	4	221	4	LASS6	2	169404150	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	16885452	169404150	73795223	16	11184											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	159	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	39708962	209113112	34086261	17	11185											
ZNF142	7701	broad.mit.edu	37	chr2	219521105	219521105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagggcacagtccatccatCtccccggtgctactggctgg	6	9	11	15	1	2	0	1	0	1	0	5	0	4	0	4	4	2	3	4	4	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:219521105C>T	ENST00000449707.1	-	4	469	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF142_ENST00000411696.2_Silent_p.E16E	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCATCCATCTCCCCGGTGC	0.582																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(46-48)gaG>gaA		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							55	61	59					2																	219521105		1974	4143	6117	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219521105C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.48G>A	2.37:g.219521105C>T						ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	p.E16E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	484	-		Renal(207;0.0474)	16					Q92510	Silent	SNP	ENST00000449707.1	37	c.48G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	6.012	0.370536	0.11352	.	.	ENSG00000115568	ENST00000440934	.	.	.	4.69	2.65	0.31530	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-1.7294	7.563	0.27862	0.0:0.7248:0.1728:0.1024	.	.	.	.	N	8	.	.	D	-	1	0	ZNF142	219229349	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	0.691000	0.25467	1.139000	0.42245	0.563000	0.77884	GAT		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		T	219521105	C	T	219521105	2	4	159	1	0	0	0	0	0	0	0	1	17728	912	32	3		3	ZNF142	2	219521105	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10407993	219521105	23678268	18	11186											
NUP210	23225	broad.mit.edu	37	chr3	13432743	13432743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtctgagaacctgtcCgcctcggagtccttcacaat	8	10	11	12	2	2	1	1	1	1	1	5	4	4	3	4	2	1	0	4	2	2	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:13432743C>T	ENST00000254508.5	-	4	583	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	167					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAACCTGTCCGCCTCGGAGT	0.582																																						uc003bxv.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(499-501)gcG>gcA		Homo sapiens nucleoporin 210kDa (NUP210), mRNA.							114	89	97					3																	13432743		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13432743C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.501G>A	3.37:g.13432743C>T							p.A167A	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			3	584	-	all_neural(104;0.187)		167					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.501G>A	CCDS33704.1																																																																																				0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		T	13432743	C	T	13432743	2	4	159	1	0	0	0	0	0	0	0	1	10760	639	23	2		2	NUP210	3	13432743	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08		13432743	184589687	19	11187											
MRPS25	64432	broad.mit.edu	37	chr3	15094113	15094115	+	In_Frame_Del	DEL	CTC	CTC	-																															gggtgagaaagctgctttttCtcctcctcctcttccctgag																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:15094113_15094115delCTC	ENST00000253686.2	-	4	495_497	c.355_357delGAG	c.(355-357)gagdel	p.E119del	MRPS25_ENST00000444840.2_In_Frame_Del_p.89_90RR>R|MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GCTGCTTTTTCTCCTCCTCCTCT	0.586																																						uc003bzl.3																			0				large_intestine(1)|lung(1)	2						c.(355-357)gagdel		Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.				1,4265		0,1,2132						4.7	0.8			140	1,8253		0,1,4126	no	coding	MRPS25	NM_022497.3		0,2,6258	A1A1,A1R,RR		0.0121,0.0234,0.016				2,12518				SO:0001651	inframe_deletion	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094113_15094115delCTC	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"Mitochondrial ribosomal proteins / small subunits"	14511	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S25"	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.355_357delGAG	3.37:g.15094122_15094124delCTC	ENSP00000253686:p.Glu119del					MRPS25_uc011avl.2_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron	p.E119del	NM_022497	NP_071942	P82663	RT25_HUMAN			3	470_472	-			119					B4DFJ5|B4DQG6|Q9H7P5	In_Frame_Del	DEL	ENST00000253686.2	37	c.355_357delGAG	CCDS2622.1																																																																																				0.586	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		-	15094115	CTC	-	15094113	7	5	159	1	0	1	0	1	0	0	0	0	9836	912	32	0	168	0	MRPS25	3	15094113	In_Frame_Del	DEL	CTC	TCGA-19-2629-01A-01D-1495-08	1661370	15094113	182928317	20	11188											
NICN1	84276	broad.mit.edu	37	chr3	49463788	49463788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccacttggcaggtgtgTgtgctgaggtgtactgacgg	6	11	15	9	1	1	2	1	2	0	0	1	2	1	2	1	4	2	3	1	4	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:49463788T>G	ENST00000273598.3	-	2	292	c.206A>C	c.(205-207)cAc>cCc	p.H69P	NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000436744.2_Missense_Mutation_p.H69P|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	69						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGTGTGTGTGCTGAGGT	0.498																																						uc003cwz.1																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(205-207)cAc>cCc		Homo sapiens nicolin 1 (NICN1), mRNA.							98	82	87					3																	49463788		2203	4300	6503	SO:0001583	missense	84276					microtubule|nucleus		g.chr3:49463788T>G	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.206A>C	3.37:g.49463788T>G	ENSP00000273598:p.His69Pro					NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Missense_Mutation_p.H69P	p.H69P	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	291	-			69					Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	c.206A>C	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	T	8.060	0.767916	0.15983	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.24538	1.85;1.85	5.3	5.3	0.74995	.	0.211030	0.40144	N	0.001164	T	0.33206	0.0855	L	0.34521	1.04	0.25069	N	0.991006	D;D	0.64830	0.987;0.994	P;P	0.56865	0.6;0.808	T	0.11991	-1.0565	10	0.45353	T	0.12	-15.6021	13.1802	0.59649	0.0:0.0:0.0:1.0	.	69;69	B4DX77;Q9BSH3	.;NICN1_HUMAN	P	69	ENSP00000273598:H69P;ENSP00000402335:H69P	ENSP00000273598:H69P	H	-	2	0	NICN1	49438792	0.577000	0.26708	0.092000	0.20876	0.016000	0.09150	1.022000	0.30052	2.012000	0.59069	0.533000	0.62120	CAC		0.498	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		G	49463788	T	G	49463788	3	3	159	1	0	0	0	0	1	0	0	0	10413	1696	59	5	455	5	NICN1	3	49463788	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	34369675	49463788	148558642	21	11189											
TMEM115	11070	broad.mit.edu	37	chr3	50396188	50396190	+	In_Frame_Del	DEL	AGA	AGA	-																															tacagacacattcaccactgAgaagaagatgagcagctcca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:50396188_50396190delAGA	ENST00000266025.3	-	1	851_853	c.305_307delTCT	c.(304-309)ttctca>tca	p.F102del	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	102					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCACCACTGAGAAGAAGATGAG	0.601																																						uc003dan.1																			0				breast(2)|endometrium(1)|lung(1)|prostate(1)	5						c.(304-309)ttctca>tca		Homo sapiens transmembrane protein 115 (TMEM115), mRNA.																																				SO:0001651	inframe_deletion	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50396188_50396190delAGA	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.305_307delTCT	3.37:g.50396194_50396196delAGA	ENSP00000266025:p.Phe102del					Mir_324_uc021wyp.1_5'Flank	p.F102del	NM_007024	NP_008955	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	0	750_752	-			102					A2IDB7|O14568|Q6IAY4|Q9UIX3	In_Frame_Del	DEL	ENST00000266025.3	37	c.305_307delTCT	CCDS2828.1																																																																																				0.601	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		-	50396190	AGA	-	50396188	7	5	159	1	0	1	0	1	0	0	0	0	16026	304	11	0	756	0	TMEM115	3	50396188	In_Frame_Del	DEL	AGA	TCGA-19-2629-01A-01D-1495-08	932400	50396188	147626242	22	11190											
C3orf17	25871	broad.mit.edu	37	chr3	112724550	112724550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagtttgtatgacaggcaTtgaaactccactattcaaga	13	13	7	8	0	1	3	1	2	0	1	2	3	2	3	1	1	1	3	1	1	5	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:112724550T>C	ENST00000314400.5	-	9	1728	c.1537A>G	c.(1537-1539)Atg>Gtg	p.M513V	C3orf17_ENST00000383675.2_Missense_Mutation_p.M443V|C3orf17_ENST00000393857.2_Missense_Mutation_p.M377V|C3orf17_ENST00000472762.1_5'Flank	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	513					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGACAGGCATTGAAACTCCA	0.388																																						uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(1537-1539)Atg>Gtg		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.							157	148	151					3																	112724550		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112724550T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1537A>G	3.37:g.112724550T>C	ENSP00000320251:p.Met513Val					C3orf17_uc011bia.2_Missense_Mutation_p.M310V|C3orf17_uc003dzu.3_Missense_Mutation_p.M442V|C3orf17_uc011bib.2_Missense_Mutation_p.M402V|C3orf17_uc011bic.2_Missense_Mutation_p.M346V|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.3_Missense_Mutation_p.M416V|C3orf17_uc003dzs.3_Missense_Mutation_p.M377V|C3orf17_uc010hqg.3_Missense_Mutation_p.M338V	p.M513V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			8	1598	-			513					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.1537A>G	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	5.508	0.278619	0.10458	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.28895	1.59;1.59;1.59	5.18	-3.45	0.04781	.	2.020510	0.01969	N	0.043917	T	0.11495	0.0280	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.15378	-1.0439	10	0.27082	T	0.32	1.014	5.3811	0.16192	0.0:0.3139:0.2693:0.4168	.	402;310;443;513	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	V	513;443;160;377	ENSP00000320251:M513V;ENSP00000373173:M443V;ENSP00000377438:M377V	ENSP00000320251:M513V	M	-	1	0	C3orf17	114207240	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.257000	0.08745	-0.666000	0.05310	-0.274000	0.10170	ATG		0.388	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		C	112724550	T	C	112724550	3	2	159	1	0	0	0	0	1	0	0	0	2210	1493	52	4	170	4	C3orf17	3	112724550	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	62328362	112724550	85297880	23	11191											
CCDC37	348807	broad.mit.edu	37	chr3	126138549	126138549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcctatacaagctgtcGcccaaggagtggcttgaaga	11	10	11	9	1	0	2	0	1	0	1	2	4	1	3	2	2	2	2	2	2	5	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:126138549G>A	ENST00000352312.1	+	9	900	c.801G>A	c.(799-801)tcG>tcA	p.S267S	CCDC37_ENST00000505024.1_Silent_p.S268S|CCDC37_ENST00000393425.1_Silent_p.S268S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	267										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAAGCTGTCGCCCAAGGAGT	0.488																																						uc010hsg.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(802-804)tcG>tcA		Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.							71	74	73					3																	126138549		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126138549G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.801G>A	3.37:g.126138549G>A						CCDC37_uc003eiu.1_Silent_p.S267S	p.S268S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	7	863	+			267					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.804G>A	CCDS3037.1																																																																																				0.488	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126138549	G	A	126138549	2	1	159	1	0	0	0	0	0	0	0	1	2809	1074	38	1		1	CCDC37	3	126138549	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	13413999	126138549	71883881	24	11192											
CP	1356	broad.mit.edu	37	chr3	148903188	148903188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtatatttttgcttcatgCcgcctgtgtaatgatcagtt	8	17	8	8	1	2	1	2	1	0	0	2	1	2	1	2	0	2	4	2	0	3	7			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:148903188C>T	ENST00000264613.6	-	12	2385	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	708	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCTTCATGCCGCCTGTGTA	0.468																																						uc003ewy.4																			0		p.G708S(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2122-2124)gGc>gAc		Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	Drotrecogin alfa(DB00055)						145	135	138					3																	148903188		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903188C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2123G>A	3.37:g.148903188C>T	ENSP00000264613:p.Gly708Asp					CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G489D|CP_uc003ewz.3_Missense_Mutation_p.G708D	p.G708D	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		11	2376	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	708			F5/8 type A 2.|Plastocyanin-like 4.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2123G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734938	0.89482	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99981	-10.34;-10.34	5.63	5.63	0.86233	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99984	0.9995	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99264	1.0891	10	0.62326	D	0.03	-20.8732	19.6942	0.96016	0.0:1.0:0.0:0.0	.	708;708;708	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	D	708;491	ENSP00000264613:G708D;ENSP00000420545:G491D	ENSP00000264613:G708D	G	-	2	0	CP	150385878	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.989000	0.76219	2.651000	0.90000	0.455000	0.32223	GGC		0.468	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		T	148903188	C	T	148903188	3	4	159	1	0	0	0	0	1	0	0	0	3787	739	26	3	1106	3	CP	3	148903188	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	22764639	148903188	49119242	25	11193											
VEPH1	79674	broad.mit.edu	37	chr3	157213090	157213090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggagaagaggtccccagCtcgtgaaagatctttttgtc	11	11	11	8	1	1	4	0	1	1	3	4	5	2	4	2	2	1	1	2	2	3	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:157213090C>A	ENST00000362010.2	-	2	356	c.49G>T	c.(49-51)Gct>Tct	p.A17S	VEPH1_ENST00000543418.1_Missense_Mutation_p.A17S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A17S|VEPH1_ENST00000537559.1_Missense_Mutation_p.A17S|VEPH1_ENST00000468233.1_Missense_Mutation_p.A17S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A17S|VEPH1_ENST00000494677.1_Missense_Mutation_p.A17S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	17						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGTCCCCAGCTCGTGAAAGA	0.413																																						uc003fbj.2																			0		p.A17G(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(49-51)Gct>Tct		Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.							153	154	153					3																	157213090		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157213090C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.49G>T	3.37:g.157213090C>A	ENSP00000354919:p.Ala17Ser					VEPH1_uc003fbk.2_Missense_Mutation_p.A17S|VEPH1_uc010hvu.2_Missense_Mutation_p.A17S|VEPH1_uc021xgk.1_Missense_Mutation_p.A17S|VEPH1_uc003fbn.3_Missense_Mutation_p.A17S|VEPH1_uc003fbm.3_Missense_Mutation_p.A17S	p.A17S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	468	-			17					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.49G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845540	0.91197	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T	0.13901	2.55;2.64;2.55;2.64	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.994	T	0.11084	-1.0602	10	0.72032	D	0.01	-23.9413	19.3422	0.94347	0.0:1.0:0.0:0.0	.	17;17;17	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	S	17	ENSP00000376578:A17S;ENSP00000354919:A17S;ENSP00000446258:A17S;ENSP00000376577:A17S	ENSP00000354919:A17S	A	-	1	0	VEPH1	158695784	1.000000	0.71417	0.932000	0.37286	0.998000	0.95712	7.535000	0.82014	2.567000	0.86603	0.655000	0.94253	GCT		0.413	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		A	157213090	C	A	157213090	3	1	159	1	0	0	0	0	1	0	0	0	17151	797	28	5	2626	5	VEPH1	3	157213090	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	8309902	157213090	40809340	26	11194											
TP63	8626	broad.mit.edu	37	chr3	189607256	189607256	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctccgtatcccacAgattgcagcattgtcaggtg	8	9	8	16	1	1	1	1	0	0	1	3	1	3	1	5	1	2	3	5	1	1	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:189607256A>G	ENST00000264731.3	+	12	1724	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	TP63_ENST00000392463.2_Silent_p.T451T|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Silent_p.T460T|TP63_ENST00000456148.1_Silent_p.T447T|TP63_ENST00000440651.2_Silent_p.T541T|TP63_ENST00000392461.3_Intron|TP63_ENST00000354600.5_Silent_p.T451T|TP63_ENST00000449992.1_Silent_p.T366T|TP63_ENST00000392460.3_Silent_p.T545T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	545	SAM.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGTATCCCACAGATTGCAGCA	0.597										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1633-1635)acA>acG		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							119	105	109					3																	189607256		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189607256A>G	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1635A>G	3.37:g.189607256A>G		HNSCC(45;0.13)				TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T366T	p.T545T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1724	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		545			SAM.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1635A>G	CCDS3293.1																																																																																				0.597	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		G	189607256	A	G	189607256	2	3	159	1	0	0	0	0	0	0	0	1	16389	175	7	4		4	TP63	3	189607256	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	32394166	189607256	8415174	27	11195											
LGI2	55203	broad.mit.edu	37	chr4	25019723	25019723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggaatttgtcatcttcaaCcacaggtatagccacttggc	10	12	9	10	0	3	0	2	0	1	0	3	1	3	1	2	3	2	1	2	3	4	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:25019723C>A	ENST00000382114.4	-	6	728	c.543G>T	c.(541-543)tgG>tgT	p.W181C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	181	LRRCT.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATCTTCAACCACAGGTATA	0.373																																						uc003grf.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(541-543)tgG>tgT		Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.							184	171	175					4																	25019723		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25019723C>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.543G>T	4.37:g.25019723C>A	ENSP00000371548:p.Trp181Cys						p.W181C	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			5	642	-		Breast(46;0.173)	181			LRRCT.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.543G>T	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.417110|4.417110	0.83449|0.83449	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|D	.|0.91740	.|-2.9	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Cysteine-rich flanking region, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97129|0.97129	0.9062|0.9062	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.97286|0.97286	0.9921|0.9921	5|10	.|0.72032	.|D	.|0.01	-17.0959|-17.0959	20.0781|20.0781	0.97751|0.97751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181	.|Q8N0V4	.|LGI2_HUMAN	V|C	172|181	.|ENSP00000371548:W181C	.|ENSP00000371548:W181C	G|W	-|-	2|3	0|0	LGI2|LGI2	24628821|24628821	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.373	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			A	25019723	C	A	25019723	3	1	159	1	0	0	0	0	1	0	0	0	8752	508	18	5	1106	5	LGI2	4	25019723	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		25019723	166134553	28	11196											
UGT2A3	79799	broad.mit.edu	37	chr4	69798344	69798344	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggattggaggttttactgAccttctgtgggatctgggca	7	13	14	7	0	2	1	0	1	2	0	2	4	2	4	1	5	1	2	1	5	1	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:69798344A>G	ENST00000251566.4	-	3	1027		c.e3+1		UGT2A3_ENST00000420231.2_Splice_Site	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3						cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTTACTGACCTTCTGTGG	0.398																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e3+1		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							140	137	138					4																	69798344		2203	4300	6503	SO:0001630	splice_region_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798344A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.996+1T>C	4.37:g.69798344A>G						UGT2A3_uc010ihp.1_Splice_Site	p.K332_splice	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			3	1027	-			332					Q9H6S4	Splice_Site	SNP	ENST00000251566.4	37	c.996_splice	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	-	14.17	2.455256	0.43634	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7361	0.28815	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2A3	69832933	1.000000	0.71417	0.806000	0.32338	0.284000	0.27059	7.491000	0.81471	0.948000	0.37687	0.459000	0.35465	.		0.398	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	Intron	G	69798344	A	G	69798344	5	3	159	1	0	0	0	0	0	0	1	0	16952	289	10	4	601	4	UGT2A3	4	69798344	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	44778621	69798344	121355932	29	11197											
USP53	54532	broad.mit.edu	37	chr4	120213685	120213686	+	Frame_Shift_Del	DEL	CT	CT	-																															ttgccttttcacgttgataaCtctgcttctgggaagagagt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:120213685_120213686delCT	ENST00000274030.6	+	19	3720_3721	c.2541_2542delCT	c.(2539-2544)aactctfs	p.S848fs	USP53_ENST00000450251.1_Frame_Shift_Del_p.S848fs	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGTTGATAACTCTGCTTCTGG	0.391																																						uc003ics.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2539-2544)aactctfs		Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.																																				SO:0001589	frameshift_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120213685_120213686delCT	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2541_2542delCT	4.37:g.120213687_120213688delCT	ENSP00000274030:p.Ser848fs					USP53_uc003icr.4_Frame_Shift_Del_p.N847fs|USP53_uc003icu.4_Frame_Shift_Del_p.N470fs	p.N847fs	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			17	3607_3608	+			847						Frame_Shift_Del	DEL	ENST00000274030.6	37	c.2541_2542delCT	CCDS43265.1																																																																																				0.391	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		-	120213686	CT	-	120213685	7	5	159	1	0	1	0	1	0	0	0	0	17081	564	20	0	2599	0	USP53	4	120213685	Frame_Shift_Del	DEL	CT	TCGA-19-2629-01A-01D-1495-08	50415341	120213685	70940591	30	11198											
PCDH18	54510	broad.mit.edu	37	chr4	138442804	138442804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggtggcatccagcactgGtcagagtgtcccaggaccct	8	8	13	12	0	1	1	1	0	0	1	3	2	3	2	3	4	1	2	3	4	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:138442804G>T	ENST00000344876.4	-	4	3173	c.2787C>A	c.(2785-2787)gaC>gaA	p.D929E	PCDH18_ENST00000507846.1_Missense_Mutation_p.D708E|PCDH18_ENST00000412923.2_Missense_Mutation_p.D928E|PCDH18_ENST00000510305.1_Missense_Mutation_p.D140E|PCDH18_ENST00000511115.1_Missense_Mutation_p.D109E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	929	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAGCACTGGTCAGAGTGTC	0.498																																						uc003ihe.4																			0		p.D929V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2785-2787)gaC>gaA		Homo sapiens protocadherin 18 (PCDH18), mRNA.							132	131	131					4																	138442804		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442804G>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2787C>A	4.37:g.138442804G>T	ENSP00000355082:p.Asp929Glu					PCDH18_uc003ihf.4_Missense_Mutation_p.D921E|PCDH18_uc011cgz.2_Missense_Mutation_p.D140E|PCDH18_uc003ihg.4_Missense_Mutation_p.D708E|PCDH18_uc011cha.2_Missense_Mutation_p.D109E	p.D929E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			3	3174	-	all_hematologic(180;0.24)		929			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2787C>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518315	0.64634	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	D;D;D;T;T	0.83591	-1.69;-1.68;-1.74;-0.49;-0.45	5.55	4.71	0.59529	.	0.000000	0.45867	D	0.000337	D	0.91314	0.7261	M	0.84948	2.725	0.52099	D	0.999943	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.991;0.992;0.991	D	0.91429	0.5164	10	0.42905	T	0.14	.	14.6088	0.68501	0.07:0.0:0.93:0.0	.	109;708;928;929	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	929;928;708;140;109	ENSP00000355082:D929E;ENSP00000390688:D928E;ENSP00000425903:D708E;ENSP00000424269:D140E;ENSP00000425647:D109E	ENSP00000355082:D929E	D	-	3	2	PCDH18	138662254	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.141000	0.58038	1.358000	0.45922	-0.137000	0.14449	GAC		0.498	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		T	138442804	G	T	138442804	3	4	159	1	0	0	0	0	1	0	0	0	11513	1252	44	5	624	5	PCDH18	4	138442804	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	18229119	138442804	52711472	31	11199											
SPOCK3	50859	broad.mit.edu	37	chr4	167921580	167921580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttatggcgactacatttCatctttaagcatggatcctt	10	16	6	9	1	2	0	1	0	1	0	3	2	3	1	1	2	2	1	1	2	3	7			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:167921580C>T	ENST00000357154.3	-	5	416	c.279G>A	c.(277-279)atG>atA	p.M93I	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000421836.2_Missense_Mutation_p.M42I|SPOCK3_ENST00000511531.1_Missense_Mutation_p.M93I|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.M90I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000535728.1_Start_Codon_SNP_p.M1I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.M93I|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000512648.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.M93I|SPOCK3_ENST00000541637.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	93					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTACATTTCATCTTTAAGC	0.348																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(304-306)atG>atA		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							127	121	123					4																	167921580		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167921580C>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.279G>A	4.37:g.167921580C>T	ENSP00000349677:p.Met93Ile					SPOCK3_uc021xuf.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cjp.2_Missense_Mutation_p.M90I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_Non-coding_Transcript	p.M102I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	2	363	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	93					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.306G>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926124	0.34002	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000512648;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38560	1.67;1.66;1.66;1.67;1.67;1.67;1.66;1.66;1.74;1.42;2.38;1.18;1.13;1.13	5.4	4.55	0.56014	.	0.315580	0.38548	N	0.001659	T	0.30665	0.0772	N	0.26042	0.785	0.80722	D	1	B;B;B;B;B;B	0.21905	0.002;0.049;0.049;0.0;0.038;0.062	B;B;B;B;B;B	0.20955	0.004;0.009;0.009;0.005;0.015;0.032	T	0.05869	-1.0859	10	0.24483	T	0.36	-5.2744	14.1629	0.65457	0.0:0.9274:0.0:0.0726	.	42;102;90;93;90;93	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	I	93;90;90;93;93;93;90;90;1;42;90;90;93;93	ENSP00000349677:M93I;ENSP00000350153:M90I;ENSP00000425570:M90I;ENSP00000420920:M93I;ENSP00000423421:M93I;ENSP00000423606:M93I;ENSP00000426716:M90I;ENSP00000425502:M90I;ENSP00000441396:M1I;ENSP00000411344:M42I;ENSP00000426177:M90I;ENSP00000423367:M90I;ENSP00000424168:M93I;ENSP00000425407:M93I	ENSP00000349677:M93I	M	-	3	0	SPOCK3	168158155	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.852000	0.27764	1.406000	0.46857	0.557000	0.71058	ATG		0.348	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			T	167921580	C	T	167921580	3	4	159	1	0	0	0	0	1	0	0	0	15080	826	29	3	1063	3	SPOCK3	4	167921580	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	29478776	167921580	23232696	32	11200											
MFAP3L	9848	broad.mit.edu	37	chr4	170926952	170926952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtcacactcttagcggtgGctagagtggatactaggatt	10	12	12	7	1	2	1	1	0	1	1	2	3	2	3	0	4	2	1	0	4	5	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:170926952G>A	ENST00000361618.3	-	2	384	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MFAP3L_ENST00000393702.3_Missense_Mutation_p.A26V|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A26V|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTAGCGGTGGCTAGAGTGGA	0.458																																						uc003isp.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(76-78)gCc>gTc		Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.							100	100	100					4																	170926952		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170926952G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.77C>T	4.37:g.170926952G>A	ENSP00000354583:p.Ala26Val					MFAP3L_uc003isn.4_5'Flank	p.A26V	NM_021647	NP_001009554	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	1	255	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	26					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.77C>T	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403205	0.42613	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.86164	-1.79;-2.08;-2.08;-2.08;-1.82	5.58	4.72	0.59763	.	0.274739	0.37483	N	0.002074	D	0.84561	0.5499	M	0.69823	2.125	0.19575	N	0.999966	P	0.39282	0.666	B	0.33339	0.162	T	0.75977	-0.3127	10	0.31617	T	0.26	0.738	14.925	0.70871	0.0:0.1426:0.8574:0.0	.	26	O75121	MFA3L_HUMAN	V	26	ENSP00000354583:A26V;ENSP00000377305:A26V;ENSP00000422571:A26V;ENSP00000425303:A26V;ENSP00000426247:A26V	ENSP00000354583:A26V	A	-	2	0	MFAP3L	171163527	0.098000	0.21812	0.164000	0.22755	0.004000	0.04260	1.276000	0.33156	1.429000	0.47314	0.655000	0.94253	GCC		0.458	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		A	170926952	G	A	170926952	3	1	159	1	0	0	0	0	1	0	0	0	9516	1203	42	3	1160	3	MFAP3L	4	170926952	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	3005372	170926952	20227324	33	11201											
TLR3	7098	broad.mit.edu	37	chr4	187003773	187003773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagtataataatatacaGcatttgttttctcactcttt	12	18	4	7	0	2	1	1	0	2	1	3	1	2	1	0	0	2	3	0	0	6	10			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:187003773G>A	ENST00000296795.3	+	4	1037	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TLR3_ENST00000504367.1_Silent_p.Q34Q|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	311					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATAATATACAGCATTTGTTTT	0.383																																						uc003iyq.3																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(931-933)caG>caA		Homo sapiens toll-like receptor 3 (TLR3), mRNA.							64	68	66					4																	187003773		2202	4300	6502	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003773G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.933G>A	4.37:g.187003773G>A						TLR3_uc011ckz.2_Silent_p.Q34Q|TLR3_uc003iyr.3_Silent_p.Q34Q	p.Q311Q	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	3	1034	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	311					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.933G>A	CCDS3846.1																																																																																				0.383	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			A	187003773	G	A	187003773	2	1	159	1	0	0	0	0	0	0	0	1	15949	962	34	3		3	TLR3	4	187003773	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	16076821	187003773	4150503	34	11202											
SPEF2	79925	broad.mit.edu	37	chr5	35771803	35771804	+	Frame_Shift_Ins	INS	-	-	A																															ctcctcagatgggtgcaaatINSaaaaaagtcaaaaaggagcc																								rs373047946		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:35771803_35771804insA	ENST00000356031.3	+	27	4048_4049	c.3894_3895insA	c.(3895-3897)aaafs	p.K1299fs	SPEF2_ENST00000440995.2_Frame_Shift_Ins_p.K1294fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1299					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGCAAATAAAAAAGTCAA	0.426																																						uc003jjo.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3892-3897)aataaafs		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771803_35771804insA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3900dupA	5.37:g.35771809_35771809dupA	ENSP00000348314:p.Lys1299fs					SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.3_5'Flank	p.N1298fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		26	4005_4006	+	all_lung(31;7.56e-05)		1298					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Ins	INS	ENST00000356031.3	37	c.3894_3895insA	CCDS43309.1																																																																																				0.426	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		A	35771804	-	A	35771803	7	5	159	1	0	1	1	0	0	0	0	0	15034	1403	49	0	4021	0	SPEF2	5	35771803	Frame_Shift_Ins	INS	-	TCGA-19-2629-01A-01D-1495-08		35771803	145143457	35	11203											
PIK3R1	5295	broad.mit.edu	37	chr5	67589619	67589621	+	In_Frame_Del	DEL	GAG	GAG	-																															tcagtttcaagaaaaaagtcGagaatatgatagattatatg																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:67589619_67589621delGAG	ENST00000521381.1	+	11	1998_2000	c.1382_1384delGAG	c.(1381-1386)cgagaa>caa	p.461_462RE>Q	PIK3R1_ENST00000396611.1_In_Frame_Del_p.461_462RE>Q|PIK3R1_ENST00000521657.1_In_Frame_Del_p.461_462RE>Q|PIK3R1_ENST00000274335.5_In_Frame_Del_p.461_462RE>Q|PIK3R1_ENST00000320694.8_In_Frame_Del_p.161_162RE>Q|PIK3R1_ENST00000336483.5_In_Frame_Del_p.191_192RE>Q|PIK3R1_ENST00000523872.1_In_Frame_Del_p.98_99RE>Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	461					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E162*(1)|p.E192*(1)|p.0?(1)|p.?(1)|p.F456_R461>S(1)|p.F456_R461del(1)|p.E462_R465delEYDR(1)|p.Q457_R461del(1)|p.T454_D464del(1)|p.E462*(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAAAAAGTCGAGAATATGATAG	0.281			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		10	Deletion - In frame(4)|Substitution - Nonsense(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	p.F456_R461>S(2)|p.F456_R461del(2)|p.E462_R465delEYDR(2)|p.Q457_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.E462*(2)|p.E162*(1)|p.E192*(1)|p.K459_S460>N(1)|p.0?(1)|p.?(1)|p.S460fs*5(1)|p.R461*(1)	lung(5)|endometrium(4)|large_intestine(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1381-1386)cgagaa>caa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589619_67589621delGAG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1382_1384delGAG	5.37:g.67589619_67589621delGAG	ENSP00000428056:p.Arg461_Glu462delinsGln	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.3_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.3_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc021xzn.1_In_Frame_Del_p.98_99RE>Q|PIK3R1_uc011crb.2_In_Frame_Del_p.131_132RE>Q	p.461_462RE>Q	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1962_1964	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	461					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1382_1384delGAG	CCDS3993.1																																																																																				0.281	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67589621	GAG	-	67589619	7	5	159	1	0	1	0	1	0	0	0	0	11918	1058	37	0	1550	0	PIK3R1	5	67589619	In_Frame_Del	DEL	GAG	TCGA-19-2629-01A-01D-1495-08	31817816	67589619	113325641	36	11204											
HOMER1	9456	broad.mit.edu	37	chr5	78752779	78752781	+	In_Frame_Del	DEL	TTC	TTC	-																															gcttgctggtgggtacccagTtcttctttgtgtttgggtca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:78752779_78752781delTTC	ENST00000334082.6	-	2	1508_1510	c.66_68delGAA	c.(64-69)aagaac>aac	p.K22del	HOMER1_ENST00000282260.6_In_Frame_Del_p.K22del|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_In_Frame_Del_p.K22del	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	22	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GGGTACCCAGTTCTTCTTTGTGT	0.433																																						uc003kfy.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(64-69)aagaac>aac		Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.																																				SO:0001651	inframe_deletion	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752779_78752781delTTC	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.66_68delGAA	5.37:g.78752782_78752784delTTC	ENSP00000334382:p.Lys22del					HOMER1_uc010jab.3_In_Frame_Del_p.K22del|HOMER1_uc010jac.3_In_Frame_Del_p.K22del|HOMER1_uc010jad.3_Intron	p.K22del	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	1	1169_1171	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	22			WH1.		B2R688|O96003|Q86YM5	In_Frame_Del	DEL	ENST00000334082.6	37	c.66_68delGAA	CCDS43335.1																																																																																				0.433	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		-	78752781	TTC	-	78752779	7	5	159	1	0	1	0	1	0	0	0	0	7278	1725	60	0	1028	0	HOMER1	5	78752779	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	11163160	78752779	102162481	37	11205											
FAT2	2196	broad.mit.edu	37	chr5	150934173	150934173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcattgacgtccaagAtgcctaccaccaccctggag	10	9	9	13	1	1	2	1	1	0	1	2	4	2	3	5	1	2	0	5	1	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:150934173A>G	ENST00000261800.5	-	4	3707	c.3695T>C	c.(3694-3696)aTc>aCc	p.I1232T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1232	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTCCAAGATGCCTACCAC	0.552																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3694-3696)aTc>aCc		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							144	125	132					5																	150934173		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934173A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3695T>C	5.37:g.150934173A>G	ENSP00000261800:p.Ile1232Thr						p.I1232T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	3708	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1232			Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3695T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746476	0.30955	.	.	ENSG00000086570	ENST00000261800	T	0.58940	0.3	5.46	5.46	0.80206	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.918173	0.09172	N	0.838752	T	0.69142	0.3078	M	0.88570	2.965	0.40252	D	0.978088	B	0.28783	0.222	B	0.30716	0.119	T	0.68792	-0.5315	10	0.87932	D	0	.	15.019	0.71613	1.0:0.0:0.0:0.0	.	1232	Q9NYQ8	FAT2_HUMAN	T	1232	ENSP00000261800:I1232T	ENSP00000261800:I1232T	I	-	2	0	FAT2	150914366	1.000000	0.71417	0.012000	0.15200	0.043000	0.13939	8.832000	0.92079	2.191000	0.70037	0.533000	0.62120	ATC		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150934173	A	G	150934173	3	3	159	1	0	0	0	0	1	0	0	0	5690	333	12	4	9434	4	FAT2	5	150934173	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	72181394	150934173	29981087	38	11206											
TIMD4	91937	broad.mit.edu	37	chr5	156381617	156381617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctcattccatcagtgCggatgagcgcctccttgcaa	8	10	8	15	2	3	1	3	1	0	0	5	2	5	2	4	1	3	1	4	1	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:156381617C>T	ENST00000274532.2	-	2	265	c.209G>A	c.(208-210)cGc>cAc	p.R70H	TIMD4_ENST00000407087.3_Missense_Mutation_p.R70H	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	70	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATCAGTGCGGATGAGCGC	0.522																																						uc003lwh.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(208-210)cGc>cAc		Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.							116	107	110					5																	156381617		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381617C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.209G>A	5.37:g.156381617C>T	ENSP00000274532:p.Arg70His					TIMD4_uc010jii.2_Missense_Mutation_p.R70H	p.R70H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	266	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	70			Ig-like V-type.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.209G>A	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	c	2.092	-0.408116	0.04832	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.67345	-0.26;-0.26	5.54	-3.49	0.04724	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.198340	0.05969	N	0.641972	T	0.46073	0.1374	L	0.33339	1.005	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19910	-1.0291	10	0.12430	T	0.62	-4.1324	3.2121	0.06686	0.1018:0.2633:0.1044:0.5305	.	70;70	B5MCL9;Q96H15	.;TIMD4_HUMAN	H	70	ENSP00000274532:R70H;ENSP00000385973:R70H	ENSP00000274532:R70H	R	-	2	0	TIMD4	156314195	0.000000	0.05858	0.073000	0.20177	0.009000	0.06853	-1.060000	0.03475	-0.168000	0.10853	-1.119000	0.02030	CGC		0.522	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		T	156381617	C	T	156381617	3	4	159	1	0	0	0	0	1	0	0	0	15900	768	27	1	959	1	TIMD4	5	156381617	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	5447444	156381617	24533643	39	11207											
FGFR4	2264	broad.mit.edu	37	chr5	176520301	176520301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgcccgccactgtgcAgaagctctcccgcttccctc	4	7	8	22	4	1	1	0	0	1	1	4	1	2	1	6	0	2	3	6	0	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:176520301A>C	ENST00000292408.4	+	9	1465	c.1220A>C	c.(1219-1221)cAg>cCg	p.Q407P	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q407P|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000292410.3_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	407					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GCCACTGTGCAGAAGCTCTCC	0.692										TSP Lung(9;0.080)																												uc003mfl.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1219-1221)cAg>cCg		Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	Palifermin(DB00039)						39	44	43					5																	176520301		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520301A>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1220A>C	5.37:g.176520301A>C	ENSP00000292408:p.Gln407Pro	TSP Lung(9;0.080)				FGFR4_uc003mfm.3_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	p.Q407P	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	407					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1220A>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581650	0.46006	.	.	ENSG00000160867	ENST00000292408;ENST00000502906;ENST00000377207	D;D	0.84660	-1.88;-1.88	4.25	4.25	0.50352	.	0.479090	0.24081	N	0.041725	D	0.88284	0.6395	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.52109	0.69	D	0.89273	0.3606	10	0.56958	D	0.05	.	13.2011	0.59769	1.0:0.0:0.0:0.0	.	407	P22455	FGFR4_HUMAN	P	407;407;635	ENSP00000292408:Q407P;ENSP00000424960:Q407P	ENSP00000292408:Q407P	Q	+	2	0	FGFR4	176452907	1.000000	0.71417	0.994000	0.49952	0.406000	0.30931	5.921000	0.70028	1.795000	0.52594	0.459000	0.35465	CAG		0.692	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			C	176520301	A	C	176520301	3	2	159	1	0	0	0	0	1	0	0	0	5868	188	7	5	1250	5	FGFR4	5	176520301	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	20138684	176520301	4394959	40	11208											
KIAA0319	9856	broad.mit.edu	37	chr6	24563608	24563608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagatccgagtgggcccgaAtcttctggaccttaatgtcc	8	11	11	11	2	2	1	0	1	2	1	4	5	4	2	4	2	0	0	4	2	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:24563608A>G	ENST00000378214.3	-	16	3094	c.2570T>C	c.(2569-2571)aTt>aCt	p.I857T	KIAA0319_ENST00000430948.2_Missense_Mutation_p.I812T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.I857T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.I857T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.I848T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	857					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGGGCCCGAATCTTCTGGAC	0.567																																						uc011djo.2																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2569-2571)aTt>aCt		Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.							75	62	66					6																	24563608		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24563608A>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2570T>C	6.37:g.24563608A>G	ENSP00000367459:p.Ile857Thr					KIAA0319_uc011djp.2_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	p.I857T	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN			15	3070	-			857					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2570T>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500600	0.64298	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.10960	2.83;2.83;2.83;2.82;2.82	4.23	4.23	0.50019	.	0.075313	0.53938	D	0.000053	T	0.17746	0.0426	M	0.76328	2.33	0.50813	D	0.999899	D;P;P	0.63046	0.992;0.925;0.877	P;P;B	0.57101	0.813;0.536;0.335	T	0.01416	-1.1360	10	0.87932	D	0	-20.0534	13.4883	0.61379	1.0:0.0:0.0:0.0	.	857;848;857	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	857;848;812;857;857	ENSP00000439700:I857T;ENSP00000442403:I848T;ENSP00000401086:I812T;ENSP00000367459:I857T;ENSP00000437656:I857T	ENSP00000367459:I857T	I	-	2	0	KIAA0319	24671587	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.087000	0.89521	1.754000	0.51921	0.533000	0.62120	ATT		0.567	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		G	24563608	A	G	24563608	3	3	159	1	0	0	0	0	1	0	0	0	8168	101	4	4	672	4	KIAA0319	6	24563608	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08		24563608	146551459	41	11209											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250643	26250643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgctggaatggtagcttgCgaatcagtagctcagtcgat	10	10	13	8	3	2	0	2	0	0	0	3	4	2	1	0	2	3	5	0	2	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:26250643C>T	ENST00000446824.2	-	1	192	c.191G>A	c.(190-192)cGc>cAc	p.R64H	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	64					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						TGGTAGCTTGCGAATCAGTAG	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhg.1																			0				lung(6)|urinary_tract(1)	7						c.(190-192)cGc>cAc		Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.							118	119	119					6																	26250643		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250643C>T	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.191G>A	6.37:g.26250643C>T	ENSP00000444823:p.Arg64His		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.3_5'Flank	p.R64H	NM_021018	NP_066298	P68431	H31_HUMAN			0	193	-			64					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.191G>A	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	16.85	3.237711	0.58886	.	.	ENSG00000256316	ENST00000446824	T	0.46819	0.86	4.82	4.82	0.62117	.	.	.	.	.	T	0.58004	0.2092	.	.	.	0.45762	D	0.998659	.	.	.	.	.	.	T	0.60500	-0.7251	6	0.56958	D	0.05	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	H	64	ENSP00000444823:R64H	ENSP00000444823:R64H	R	-	2	0	HIST1H3F	26358622	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.826000	0.69293	2.602000	0.87976	0.561000	0.74099	CGC		0.612	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		T	26250643	C	T	26250643	3	4	159	1	0	0	0	0	1	0	0	0	7160	768	27	1	223	1	HIST1H3F	6	26250643	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	1687035	26250643	144864424	42	11210											
TULP1	7287	broad.mit.edu	37	chr6	35477607	35477607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaggctgggctcaccttTcttcttggtctttctcatct	3	17	7	14	0	6	0	2	0	5	0	7	0	6	0	2	3	0	2	2	3	1	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:35477607T>C	ENST00000229771.6	-	6	677	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TULP1_ENST00000322263.4_Missense_Mutation_p.K147E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	200					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCACCTTTCTTCTTGGTC	0.592																																					GBM(55;1027 1091 11115 23439)	uc003okv.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(598-600)Aaa>Gaa		Homo sapiens tubby like protein 1 (TULP1), mRNA.							191	185	187					6																	35477607		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35477607T>C	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.598A>G	6.37:g.35477607T>C	ENSP00000229771:p.Lys200Glu					TULP1_uc003okw.4_Missense_Mutation_p.K147E|TULP1_uc021yyx.1_Missense_Mutation_p.K200E|TULP1_uc021yyy.1_Missense_Mutation_p.K200E	p.K200E	NM_003322	NP_003313	O00294	TULP1_HUMAN			5	610	-			200					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.598A>G	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333983	0.41297	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	D;D;T	0.82526	-1.62;-1.5;-0.11	4.16	4.16	0.48862	.	0.219095	0.21296	U	0.076887	T	0.81870	0.4914	L	0.58101	1.795	0.54753	D	0.999986	D;D	0.71674	0.998;0.988	D;P	0.78314	0.991;0.76	T	0.79378	-0.1828	10	0.11485	T	0.65	.	10.6768	0.45792	0.0:0.0:0.0:1.0	.	147;200	O00294-2;O00294	.;TULP1_HUMAN	E	200;147;147;152	ENSP00000229771:K200E;ENSP00000319414:K147E;ENSP00000406765:K152E	ENSP00000229771:K200E	K	-	1	0	TULP1	35585585	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	3.261000	0.51530	1.747000	0.51819	0.379000	0.24179	AAA		0.592	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			C	35477607	T	C	35477607	3	2	159	1	0	0	0	0	1	0	0	0	16770	1792	62	4	1070	4	TULP1	6	35477607	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	9226964	35477607	135637460	43	11211											
CAPN11	11131	broad.mit.edu	37	chr6	44140965	44140965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccacaggctgagtgggTcctatgaagcattgtcaggg	8	9	15	9	0	1	2	1	2	0	0	2	2	2	2	2	3	2	2	2	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:44140965T>A	ENST00000398776.1	+	7	711	c.673T>A	c.(673-675)Tcc>Acc	p.S225T	CAPN11_ENST00000542245.1_Missense_Mutation_p.S225T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	225	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGTGGGTCCTATGAAGC	0.617											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owt.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(673-675)Tcc>Acc		Homo sapiens calpain 11 (CAPN11), mRNA.							94	96	95					6																	44140965		2026	4181	6207	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44140965T>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.673T>A	6.37:g.44140965T>A	ENSP00000381758:p.Ser225Thr		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.S225T	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	711	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		225			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.673T>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116771	0.77323	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.89050	-2.46;-2.46	4.3	4.3	0.51218	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.48286	D	0.000198	D	0.94827	0.8329	H	0.95539	3.685	0.36467	D	0.867011	P	0.51933	0.949	P	0.61940	0.896	D	0.96239	0.9174	10	0.72032	D	0.01	.	13.6399	0.62243	0.0:0.0:0.0:1.0	.	225	Q9UMQ6	CAN11_HUMAN	T	225	ENSP00000381758:S225T;ENSP00000441078:S225T	ENSP00000381758:S225T	S	+	1	0	CAPN11	44248943	0.993000	0.37304	0.961000	0.40146	0.727000	0.41649	5.956000	0.70315	2.170000	0.68504	0.491000	0.48974	TCC		0.617	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			A	44140965	T	A	44140965	3	1	159	1	0	0	0	0	1	0	0	0	2624	1667	58	5	699	5	CAPN11	6	44140965	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	8663358	44140965	126974102	44	11212											
RAB23	51715	broad.mit.edu	37	chr6	57055306	57055309	+	Frame_Shift_Del	DEL	TTTG	TTTG	-																															atttctgtttttcttggtccTttgtttgttgggtctaagat																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:57055306_57055309delTTTG	ENST00000317483.3	-	7	1283_1286	c.664_667delCAAA	c.(664-669)caaaggfs	p.QR222fs	RAB23_ENST00000468148.1_Frame_Shift_Del_p.QR222fs	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	222					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTTGGTCCTTTGTTTGTTGGGT	0.387																																						uc003pds.3																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8						c.(664-669)caaaggfs		Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57055306_57055309delTTTG	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"RAB, member RAS oncogene"	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.664_667delCAAA	6.37:g.57055310_57055313delTTTG	ENSP00000320413:p.Gln222fs					RAB23_uc003pdt.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.3_Non-coding_Transcript	p.Q222fs	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	870_873	-	Lung NSC(77;0.121)		222					B2R9I5|Q68DJ6|Q8NI06|Q9P023	Frame_Shift_Del	DEL	ENST00000317483.3	37	c.664_667delCAAA	CCDS4962.1																																																																																				0.387	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			-	57055309	TTTG	-	57055306	7	5	159	1	0	1	0	1	0	0	0	0	12910	1608	56	0	50	0	RAB23	6	57055306	Frame_Shift_Del	DEL	TTTG	TCGA-19-2629-01A-01D-1495-08	12914341	57055306	114059761	45	11213											
SPACA1	81833	broad.mit.edu	37	chr6	88769216	88769216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatcctagaagtacgcAaggaaagtcaccccttggct	13	7	9	12	1	1	1	1	0	0	1	2	2	2	2	3	2	2	4	3	2	6	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:88769216A>C	ENST00000237201.1	+	5	637	c.520A>C	c.(520-522)Aag>Cag	p.K174Q	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	174					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGAAGTACGCAAGGAAAGTCA	0.343																																						uc003pmn.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(520-522)Aag>Cag		Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.							87	84	85					6																	88769216		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88769216A>C	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.520A>C	6.37:g.88769216A>C	ENSP00000237201:p.Lys174Gln						p.K174Q	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	4	637	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	174						Missense_Mutation	SNP	ENST00000237201.1	37	c.520A>C	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	A	6.708	0.499289	0.12762	.	.	ENSG00000118434	ENST00000237201	T	0.21031	2.03	5.5	3.18	0.36537	.	0.000000	0.64402	D	0.000002	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.36016	-0.9765	10	0.72032	D	0.01	-11.4498	12.0546	0.53527	0.677:0.323:0.0:0.0	.	174	Q9HBV2	SACA1_HUMAN	Q	174	ENSP00000237201:K174Q	ENSP00000237201:K174Q	K	+	1	0	SPACA1	88825935	0.986000	0.35501	0.497000	0.27552	0.041000	0.13682	2.837000	0.48191	0.894000	0.36317	0.528000	0.53228	AAG		0.343	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			C	88769216	A	C	88769216	3	2	159	1	0	0	0	0	1	0	0	0	14972	131	5	5	538	5	SPACA1	6	88769216	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	31713910	88769216	82345851	46	11214											
ASCC3	10973	broad.mit.edu	37	chr6	101110219	101110219	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaggaaggtaagctcttAccttaataataacagcatgg	16	10	8	7	0	2	0	1	0	1	0	2	1	2	1	1	3	4	3	1	3	7	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:101110219A>T	ENST00000369162.2	-	15	2823		c.e15+1			NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAAGCTCTTACCTTAATAAT	0.398																																						uc003pqk.3																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.e15+1		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							58	54	56					6																	101110219		2203	4299	6502	SO:0001630	splice_region_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101110219A>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2478+1T>A	6.37:g.101110219A>T						ASCC3_uc011eai.1_Splice_Site_p.K728_splice	p.K826_splice	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	15	2807	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	826			Helicase C-terminal 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Splice_Site	SNP	ENST00000369162.2	37	c.2478_splice	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973407	0.74246	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.52	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7512	0.57310	0.8628:0.1372:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASCC3	101216940	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.287000	0.95975	0.990000	0.38787	0.528000	0.53228	.		0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Intron	T	101110219	A	T	101110219	5	4	159	1	0	0	0	0	0	0	1	0	1033	405	14	5	4240	5	ASCC3	6	101110219	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	12341003	101110219	70004848	47	11215											
CCDC129	223075	broad.mit.edu	37	chr7	31617703	31617703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacccagaggtatcagaGtccttcaaggtgaaggatga	13	9	12	7	0	2	4	2	2	0	2	3	5	3	5	2	3	1	2	2	3	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:31617703G>A	ENST00000407970.3	+	8	863	c.825G>A	c.(823-825)gaG>gaA	p.E275E	CCDC129_ENST00000451887.2_Silent_p.E301E|CCDC129_ENST00000409210.1_Silent_p.E183E|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	275										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGTATCAGAGTCCTTCAAGG	0.453																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(901-903)gaG>gaA		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							57	58	57					7																	31617703		2203	4299	6502	SO:0001819	synonymous_variant	223075							g.chr7:31617703G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.825G>A	7.37:g.31617703G>A						CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tcj.1_Silent_p.E275E|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.E183E	p.E301E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			7	915	+			275					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.903G>A	CCDS5435.2																																																																																				0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31617703	G	A	31617703	2	1	159	1	0	0	0	0	0	0	0	1	2764	1020	36	3		3	CCDC129	7	31617703	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08		31617703	127520960	48	11216											
TRIM73	375593	broad.mit.edu	37	chr7	75028495	75028495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtctgcgtgcaccaccGgaacccgctcagccttttct	7	9	9	16	3	3	0	1	0	2	0	3	1	3	1	4	2	4	2	4	2	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:75028495G>A	ENST00000437796.1	+	1	297	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	TRIM73_ENST00000430211.1_Missense_Mutation_p.R93Q|TRIM73_ENST00000447409.2_Missense_Mutation_p.R93Q|TRIM73_ENST00000323819.3_Missense_Mutation_p.R93Q|TRIM73_ENST00000450434.1_5'UTR			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGCACCACCGGAACCCGCTC	0.667																																						uc010ldc.3																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(277-279)cGg>cAg		Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.							7	19	16					7																	75028495		848	2258	3106	SO:0001583	missense	378108					intracellular	zinc ion binding	g.chr7:75028495G>A	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18162	protein-coding gene	gene with protein product		612549	"tripartite motif-containing 50B", "tripartite motif-containing 73"	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.278G>A	7.37:g.75028495G>A	ENSP00000417040:p.Arg93Gln					TRIM73_uc003udc.1_Missense_Mutation_p.R93Q|TRIM73_uc010ldd.2_Missense_Mutation_p.R93Q	p.R93Q	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN			1	478	+			93					Q8N0S3	Missense_Mutation	SNP	ENST00000437796.1	37	c.278G>A	CCDS34665.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576170	0.28092	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);Zinc finger, B-box (6);	0.385077	0.21047	N	0.081073	T	0.24044	0.0582	N	0.04148	-0.265	0.21627	N	0.999618	B;B	0.24533	0.105;0.105	B;B	0.14578	0.011;0.011	T	0.08806	-1.0704	10	0.54805	T	0.06	.	4.0895	0.09963	0.3041:0.0:0.6959:0.0	.	93;93	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	Q	93	ENSP00000318615:R93Q;ENSP00000410121:R93Q;ENSP00000407135:R93Q;ENSP00000417040:R93Q	ENSP00000318615:R93Q	R	+	2	0	TRIM73	74866431	0.977000	0.34250	0.996000	0.52242	0.947000	0.59692	2.023000	0.41040	1.612000	0.50221	0.400000	0.26472	CGG		0.667	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1			A	75028495	G	A	75028495	3	1	159	1	0	0	0	0	1	0	0	0	16543	1116	39	2	280	2	TRIM73	7	75028495	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	43410792	75028495	84110168	49	11217											
SMURF1	57154	broad.mit.edu	37	chr7	98636097	98636099	+	In_Frame_Del	DEL	GTT	GTT	-																															tgcaggatccgcccgaaggcGttgtgttccacgcagaaggt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:98636097_98636099delGTT	ENST00000361125.1	-	15	1997_1999	c.1678_1680delAAC	c.(1678-1680)aacdel	p.N560del	AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_In_Frame_Del_p.N534del	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	560	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCGAAGGCGTTGTGTTCCACG	0.512																																						uc003upu.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1678-1680)aacdel		Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98636097_98636099delGTT	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1678_1680delAAC	7.37:g.98636097_98636099delGTT	ENSP00000354621:p.Asn560del					SMURF1_uc003upv.2_In_Frame_Del_p.N534del|SMURF1_uc003upt.3_In_Frame_Del_p.N534del	p.N560del	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		14	2018_2020	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		560			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	In_Frame_Del	DEL	ENST00000361125.1	37	c.1678_1680delAAC	CCDS34690.1																																																																																				0.512	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		-	98636099	GTT	-	98636097	7	5	159	1	0	1	0	1	0	0	0	0	14819	1136	40	0	613	0	SMURF1	7	98636097	In_Frame_Del	DEL	GTT	TCGA-19-2629-01A-01D-1495-08	23607602	98636097	60502566	50	11218											
CFTR	1080	broad.mit.edu	37	chr7	117180363	117180363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccctgggctgtacaaaCatggtatgactctcttggag	9	13	10	9	0	1	1	0	1	1	0	3	2	2	2	1	3	2	3	1	3	3	4	rs75053309|rs397508152		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:117180363C>G	ENST00000003084.6	+	8	1211	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	CFTR_ENST00000454343.1_Missense_Mutation_p.T360R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	360	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		QT -> KK (in CF).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCTGTACAAACATGGTATGAC	0.388									Cystic Fibrosis																													uc003vjd.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM983548	CFTR	M	rs75053309	c.(1078-1080)aCa>aGa		Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	Bumetanide(DB00887)|Glibenclamide(DB01016)						106	102	103					7																	117180363		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117180363C>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1079C>G	7.37:g.117180363C>G	ENSP00000003084:p.Thr360Arg					CFTR_uc011knq.2_5'UTR	p.T360R	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		7	1211	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		360		QT -> KK (in CF).	ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1079C>G	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255333	0.59321	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91843	-2.92;-2.92;-2.92	5.26	2.4	0.29515	ABC transporter, transmembrane domain, type 1 (1);	0.137729	0.64402	D	0.000004	D	0.86581	0.5967	N	0.20685	0.6	0.31969	N	0.607406	P	0.38370	0.628	P	0.47346	0.544	T	0.82434	-0.0459	10	0.13108	T	0.6	-8.9007	9.5986	0.39589	0.0:0.7688:0.0:0.2312	.	360	P13569	CFTR_HUMAN	R	360;360;330	ENSP00000003084:T360R;ENSP00000403677:T360R;ENSP00000389119:T330R	ENSP00000003084:T360R	T	+	2	0	CFTR	116967599	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	2.980000	0.49321	0.684000	0.31448	0.563000	0.77884	ACA		0.388	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		G	117180363	C	G	117180363	3	3	159	1	0	0	0	0	1	0	0	0	3294	478	17	5	1109	5	CFTR	7	117180363	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	18544266	117180363	41958300	51	11219											
SSPO	23145	broad.mit.edu	37	chr7	149477563	149477563	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcgccagctgtgtaaccCctggtgggtccttgagccat	5	10	13	13	2	0	1	0	1	0	0	1	1	1	1	5	2	4	2	5	2	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:149477563C>A	ENST00000378016.2	+	0	1634							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTAACCCCTGGTGGGTC	0.627																																						uc010lpk.3																			0											c.(1633-1635)cCc>cAc		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							30	35	33					7																	149477563		2116	4227	6343			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477563C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477563C>A						SSPO_uc010lpl.1_Intron	p.P545H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		11	1634	+	Melanoma(164;0.165)|Ovarian(565;0.177)		545					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1634C>A																																																																																					0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149477563	C	A	149477563	1	1	159	0	1	0	0	0	0	0	0	0	15188	623	22	5		5	SSPO	7	149477563	RNA	SNP	C	TCGA-19-2629-01A-01D-1495-08	32297200	149477563	9661100	52	11220											
POLR3D	661	broad.mit.edu	37	chr8	22106020	22106020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccccggcctgaggaaCgacactcgaaatatgcctgt	11	7	11	12	3	0	2	0	2	0	0	1	6	0	3	4	2	2	0	4	2	3	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:22106020C>T	ENST00000397802.4	+	5	728	c.513C>T	c.(511-513)aaC>aaT	p.N171N	POLR3D_ENST00000306433.4_Silent_p.N171N			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	171					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCCTGAGGAACGACACTCGAA	0.527																																						uc003xbl.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(511-513)aaC>aaT		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.							89	96	94					8																	22106020		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106020C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.513C>T	8.37:g.22106020C>T						POLR3D_uc003xbm.3_Silent_p.N171N|POLR3D_uc011kze.2_Non-coding_Transcript	p.N171N	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	5	596	+			171					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.513C>T	CCDS34858.1																																																																																				0.527	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		T	22106020	C	T	22106020	2	4	159	1	0	0	0	0	0	0	0	1	12231	535	19	1		1	POLR3D	8	22106020	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08		22106020	124258002	53	11221											
KCTD9	54793	broad.mit.edu	37	chr8	25287394	25287394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgacactttgtgacatGtgtagtggtgtcagcatctc	8	14	10	9	0	3	2	1	2	2	0	4	2	3	2	0	1	1	2	0	1	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:25287394G>A	ENST00000221200.4	-	12	1369	c.1149C>T	c.(1147-1149)caC>caT	p.H383H		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	383					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTTGTGACATGTGTAGTGGTG	0.428																																						uc003xeo.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(1147-1149)caC>caT		Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.							135	122	127					8																	25287394		2203	4300	6503	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25287394G>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.1149C>T	8.37:g.25287394G>A						DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	p.H383H	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	11	1371	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	383					Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.1149C>T	CCDS6048.1																																																																																				0.428	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		A	25287394	G	A	25287394	2	1	159	1	0	0	0	0	0	0	0	1	8116	1368	48	3		3	KCTD9	8	25287394	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	3181374	25287394	121076628	54	11222											
FAM110B	90362	broad.mit.edu	37	chr8	59058884	59058884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctgcgcatcctgaacaAggggccagactacttccgca	9	6	10	16	2	0	2	0	1	0	1	2	2	2	2	5	2	3	2	5	2	3	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:59058884A>T	ENST00000361488.3	+	5	975	c.95A>T	c.(94-96)aAg>aTg	p.K32M	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	32						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCTGAACAAGGGGCCAGAC	0.657																																						uc022auu.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(94-96)aAg>aTg		Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.							36	37	37					8																	59058884		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058884A>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.95A>T	8.37:g.59058884A>T	ENSP00000355204:p.Lys32Met					FAM110B_uc003xtj.1_Missense_Mutation_p.K32M	p.K32M	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			0	95	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	32					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.95A>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094451	0.56075	.	.	ENSG00000169122	ENST00000361488	T	0.55413	0.52	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72408	-0.4303	9	.	.	.	-20.4984	14.6972	0.69132	1.0:0.0:0.0:0.0	.	32	Q8TC76	F110B_HUMAN	M	32	ENSP00000355204:K32M	.	K	+	2	0	FAM110B	59221438	1.000000	0.71417	0.995000	0.50966	0.443000	0.32047	9.125000	0.94402	1.873000	0.54277	0.260000	0.18958	AAG		0.657	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		T	59058884	A	T	59058884	3	4	159	1	0	0	0	0	1	0	0	0	5397	72	3	5	97	5	FAM110B	8	59058884	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	33771490	59058884	87305138	55	11223											
NCOA2	10499	broad.mit.edu	37	chr8	71069277	71069277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcccccagaaccaccAaacctgcccatgggcatgcc	10	7	6	18	0	1	1	1	0	0	1	2	1	2	1	7	1	4	1	7	1	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:71069277A>G	ENST00000452400.2	-	11	1504	c.1323T>C	c.(1321-1323)ttT>ttC	p.F441F	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	441					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCACCAAACCTGCCCA	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1321-1323)ttT>ttC		Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.							120	114	116					8																	71069277		1945	4136	6081	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069277A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1323T>C	8.37:g.71069277A>G							p.F441F	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		10	1485	-	Breast(64;0.201)		441					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1323T>C	CCDS47872.1																																																																																				0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			G	71069277	A	G	71069277	2	3	159	1	0	0	0	0	0	0	0	1	10229	127	5	4		4	NCOA2	8	71069277	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	12010393	71069277	75294745	56	11224											
SLC7A13	157724	broad.mit.edu	37	chr8	87235301	87235301	+	Frame_Shift_Del	DEL	G	G	-																															aacgcagtaaatatgcatttGggaattgttgttctgggctt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:87235301delG	ENST00000297524.3	-	2	820	c.717delC	c.(715-717)cccfs	p.P239fs	SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.P230fs|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	239						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATGCATTTGGGAATTGTTG	0.358																																						uc003ydq.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(715-717)cccfs		Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.							143	148	146					8																	87235301		2203	4300	6503	SO:0001589	frameshift_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87235301delG	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.717delC	8.37:g.87235301delG	ENSP00000297524:p.Pro239fs					SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs	p.P239fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	815	-			239					Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL	ENST00000297524.3	37	c.717delC	CCDS34917.1																																																																																				0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		-	87235301	G	-	87235301	7	5	159	1	0	1	0	1	0	0	0	0	14695	1335	47	0	707	0	SLC7A13	8	87235301	Frame_Shift_Del	DEL	G	TCGA-19-2629-01A-01D-1495-08	16166024	87235301	59128721	57	11225											
NCALD	83988	broad.mit.edu	37	chr8	102705056	102705056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggcggaagatcttttcTgttcttttctctggggttga	5	18	11	7	1	5	2	0	1	5	1	6	3	5	3	0	4	0	2	0	4	1	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:102705056T>C	ENST00000311028.3	-	6	825	c.447A>G	c.(445-447)acA>acG	p.T149T	NCALD_ENST00000521599.1_Silent_p.T149T|NCALD_ENST00000522951.1_Silent_p.T149T|NCALD_ENST00000519508.2_Silent_p.T149T|NCALD_ENST00000220931.6_Silent_p.T149T|NCALD_ENST00000395923.1_Silent_p.T149T	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGATCTTTTCTGTTCTTTTCT	0.507																																						uc003yke.3																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(445-447)acA>acG		Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.							168	158	161					8																	102705056		2203	4300	6503	SO:0001819	synonymous_variant	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102705056T>C	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.447A>G	8.37:g.102705056T>C						NCALD_uc003ykf.3_Silent_p.T149T|NCALD_uc003ykg.3_Silent_p.T149T|NCALD_uc003ykh.3_Silent_p.T149T|NCALD_uc003yki.3_Silent_p.T149T|NCALD_uc003ykj.3_Silent_p.T149T|NCALD_uc003ykk.3_Silent_p.T149T|NCALD_uc003ykl.3_Silent_p.T149T	p.T149T	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		2	816	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		149			EF-hand 4.		P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	c.447A>G	CCDS6292.1																																																																																				0.507	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			C	102705056	T	C	102705056	2	2	159	1	0	0	0	0	0	0	0	1	10201	1567	55	4		4	NCALD	8	102705056	Silent	SNP	T	TCGA-19-2629-01A-01D-1495-08	15469755	102705056	43658966	58	11226											
PKHD1L1	93035	broad.mit.edu	37	chr8	110460477	110460477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtaatgtaaccatggccaAtgatagtgtggtgcagtgca	11	11	13	6	0	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:110460477A>G	ENST00000378402.5	+	39	5986	c.5882A>G	c.(5881-5883)aAt>aGt	p.N1961S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1961	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATGGCCAATGATAGTGTG	0.438										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5881-5883)aAt>aGt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							95	96	95					8																	110460477		2032	4203	6235	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110460477A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5882A>G	8.37:g.110460477A>G	ENSP00000367655:p.Asn1961Ser	HNSCC(38;0.096)					p.N1961S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5986	+			1961			IPT/TIG 12.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5882A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	0.630	-0.817549	0.02776	.	.	ENSG00000205038	ENST00000378402	T	0.74632	-0.86	5.49	3.12	0.35913	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.325031	0.28665	N	0.014553	T	0.46756	0.1409	N	0.10874	0.06	0.21064	N	0.999796	B	0.02656	0.0	B	0.11329	0.006	T	0.28744	-1.0034	10	0.07482	T	0.82	.	4.7272	0.12946	0.6711:0.1609:0.168:0.0	.	1961	Q86WI1	PKHL1_HUMAN	S	1961	ENSP00000367655:N1961S	ENSP00000367655:N1961S	N	+	2	0	PKHD1L1	110529653	0.994000	0.37717	0.890000	0.34922	0.223000	0.24884	1.238000	0.32707	0.392000	0.25172	0.477000	0.44152	AAT		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		G	110460477	A	G	110460477	3	3	159	1	0	0	0	0	1	0	0	0	11972	101	4	4	6036	4	PKHD1L1	8	110460477	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	7755421	110460477	35903545	59	11227											
FER1L6	654463	broad.mit.edu	37	chr8	125047566	125047566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaagcaaaagtcgacGtgtacctgtggctgggctcc	8	9	13	11	2	0	0	0	0	0	0	2	1	1	0	2	2	3	5	2	2	4	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:125047566G>A	ENST00000522917.1	+	19	2541	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V779M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	779						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGTCGACGTGTACCTGTG	0.493																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2335-2337)Gtg>Atg		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							99	99	99					8																	125047566		1960	4155	6115	SO:0001583	missense	654463					integral to membrane		g.chr8:125047566G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2335G>A	8.37:g.125047566G>A	ENSP00000428280:p.Val779Met					FER1L6-AS1_uc003yqx.1_Intron	p.V779M	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2541	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		779						Missense_Mutation	SNP	ENST00000522917.1	37	c.2335G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179454	0.57800	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.73152	-0.72;-0.72	4.83	1.97	0.26223	Ferlin B-domain (1);	0.332965	0.23945	U	0.043005	T	0.71863	0.3390	M	0.69185	2.1	0.26722	N	0.970767	D	0.53745	0.962	P	0.53006	0.715	T	0.63497	-0.6624	10	0.52906	T	0.07	.	5.6104	0.17402	0.2555:0.1448:0.5996:0.0	.	779	Q2WGJ9	FR1L6_HUMAN	M	779	ENSP00000428280:V779M;ENSP00000381982:V779M	ENSP00000381982:V779M	V	+	1	0	FER1L6	125116747	0.435000	0.25577	0.329000	0.25429	0.989000	0.77384	0.673000	0.25203	0.161000	0.19458	0.563000	0.77884	GTG		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125047566	G	A	125047566	3	1	159	1	0	0	0	0	1	0	0	0	5815	1145	40	1	2405	1	FER1L6	8	125047566	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	14587089	125047566	21316456	60	11228											
DGAT1	8694	broad.mit.edu	37	chr8	145540703	145540703	+	Frame_Shift_Del	DEL	G	G	-																															acctcgtggaagaaggccgaGgccaggaacacccctgtcct																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:145540703delG	ENST00000332324.4	-	15	1503	c.1230delC	c.(1228-1230)gccfs	p.A410fs	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	410					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGAAGGCCGAGGCCAGGAACA	0.637																																						uc003zbv.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(1228-1230)gccfs		Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.							59	57	58					8																	145540703		2203	4296	6499	SO:0001589	frameshift_variant	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145540703delG	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1230delC	8.37:g.145540703delG	ENSP00000332258:p.Ala410fs						p.A410fs	NM_012079	NP_036211	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		14	1498	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		410					B2RWQ2|D3DWL6|Q96BB8	Frame_Shift_Del	DEL	ENST00000332324.4	37	c.1230delC	CCDS6420.1																																																																																				0.637	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		-	145540703	G	-	145540703	7	5	159	1	0	1	0	1	0	0	0	0	4457	987	35	0	248	0	DGAT1	8	145540703	Frame_Shift_Del	DEL	G	TCGA-19-2629-01A-01D-1495-08	20493137	145540703	823319	61	11229											
FXN	2395	broad.mit.edu	37	chr9	71687595	71687595	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacggcgtgtccctccatGagctgctggccgcagagctc	6	7	13	15	4	0	2	0	1	0	1	3	3	2	2	3	2	3	4	3	2	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:71687595G>T	ENST00000377270.3	+	5	1074	c.550G>T	c.(550-552)Gag>Tag	p.E184*	FXN_ENST00000498653.1_Nonsense_Mutation_p.E109*|FXN_ENST00000396366.2_Missense_Mutation_p.M186I|FXN_ENST00000396364.3_Intron	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	184					adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						GTCCCTCCATGAGCTGCTGGC	0.498																																						uc004aha.2																			0				large_intestine(1)|lung(1)	2						c.(550-552)Gag>Tag		Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							119	102	108					9																	71687595		2203	4300	6503	SO:0001587	stop_gained	2395				cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding	g.chr9:71687595G>T	U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"Friedreich ataxia"	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.550G>T	9.37:g.71687595G>T	ENSP00000366482:p.Glu184*					FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	p.E184*	NM_000144	NP_000135	Q16595	FRDA_HUMAN			4	770	+			184					A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Nonsense_Mutation	SNP	ENST00000377270.3	37	c.550G>T	CCDS6626.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.52|13.52|13.52	2.263156|2.263156|2.263156	0.39995|0.39995|0.39995	.|.|.	.|.|.	ENSG00000165060|ENSG00000165060|ENSG00000165060	ENST00000377270;ENST00000498653|ENST00000396366|ENST00000484259	.|D|.	.|0.95622|.	.|-3.76|.	4.87|4.87|4.87	1.91|1.91|1.91	0.25777|0.25777|0.25777	.|.|.	0.435914|.|.	0.25461|.|.	N|.|.	0.030517|.|.	.|T|.	.|0.69333|.	.|0.3099|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.09377|.	.|0.004|.	.|T|.	.|0.66795|.	.|-0.5833|.	.|8|.	0.38643|0.39692|.	T|T|.	0.18|0.17|.	-8.8717|-8.8717|-8.8717	15.522|15.522|15.522	0.75874|0.75874|0.75874	0.0:0.4531:0.5469:0.0|0.0:0.4531:0.5469:0.0|0.0:0.4531:0.5469:0.0	.|.|.	.|186|.	.|A8MXJ6|.	.|.|.	X|I|L	184;109|186|81	.|ENSP00000379652:M186I|.	ENSP00000366482:E184X|ENSP00000379652:M186I|.	E|M|X	+|+|+	1|3|2	0|0|2	FXN|FXN|FXN	70877415|70877415|70877415	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.871000|0.871000|0.871000	0.34182|0.34182|0.34182	0.625000|0.625000|0.625000	0.37756|0.37756|0.37756	2.559000|2.559000|2.559000	0.45888|0.45888|0.45888	0.093000|0.093000|0.093000	0.17368|0.17368|0.17368	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|ATG|TGA		0.498	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144		T	71687595	G	T	71687595	4	4	159	1	0	0	0	0	0	1	0	0	6114	1291	45	5	576	5	FXN	9	71687595	Nonsense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		71687595	69525836	62	11230											
TLE4	7091	broad.mit.edu	37	chr9	82227600	82227600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaagaggctgaatgctatCtgtgcacaagtcattccttt	10	13	9	9	0	3	2	2	1	1	1	4	2	4	2	1	1	2	3	1	1	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:82227600C>T	ENST00000376552.2	+	5	1300	c.282C>T	c.(280-282)atC>atT	p.I94I	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Silent_p.I94I|TLE4_ENST00000376544.3_Silent_p.I94I|TLE4_ENST00000376537.4_Silent_p.I94I|TLE4_ENST00000376520.4_Silent_p.I94I|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	94	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGAATGCTATCTGTGCACAAG	0.408																																						uc004ald.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(259-261)atC>atT		Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.							195	175	181					9																	82227600		1896	4119	6015	SO:0001819	synonymous_variant	7091							g.chr9:82227600C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.282C>T	9.37:g.82227600C>T						TLE4_uc004alc.3_Silent_p.I94I|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.I87I|TLE4_uc010mps.3_Silent_p.I87I|TLE4_uc004alf.3_Silent_p.I32I	p.I87I	NM_007005	NP_008936	O60756	BCE1_HUMAN			4	1110	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.261C>T	CCDS43837.1																																																																																				0.408	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		T	82227600	C	T	82227600	2	4	159	1	0	0	0	0	0	0	0	1	15938	903	32	3		3	TLE4	9	82227600	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10540005	82227600	58985831	63	11231											
TDRD7	23424	broad.mit.edu	37	chr9	100235814	100235814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaagtaactaatatttGctctgatgggacactctact	12	14	7	8	0	3	1	1	1	2	0	3	2	3	2	0	1	3	2	0	1	5	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:100235814G>T	ENST00000355295.4	+	11	2280	c.1985G>T	c.(1984-1986)tGc>tTc	p.C662F	TDRD7_ENST00000422139.2_Missense_Mutation_p.C588F|TDRD7_ENST00000540902.1_Missense_Mutation_p.C11F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	662					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACTAATATTTGCTCTGATGGG	0.443																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1984-1986)tGc>tTc		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.							190	171	177					9																	100235814		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100235814G>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1985G>T	9.37:g.100235814G>T	ENSP00000347444:p.Cys662Phe					TDRD7_uc011lux.2_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Missense_Mutation_p.C11F	p.C662F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			10	2210	+		Acute lymphoblastic leukemia(62;0.158)	662					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1985G>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515821	0.44763	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.30714	2.99;2.99;1.52	4.23	4.23	0.50019	Maternal tudor protein (1);	0.084537	0.85682	D	0.000000	T	0.28134	0.0694	M	0.63428	1.95	0.58432	D	0.999996	P;B	0.34934	0.476;0.068	B;B	0.35413	0.202;0.082	T	0.02654	-1.1128	10	0.09843	T	0.71	-14.0043	12.1121	0.53846	0.0:0.0:0.8278:0.1722	.	11;662	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	F	662;588;11	ENSP00000347444:C662F;ENSP00000413608:C588F;ENSP00000440717:C11F	ENSP00000347444:C662F	C	+	2	0	TDRD7	99275635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.878000	0.48515	2.653000	0.90120	0.585000	0.79938	TGC		0.443	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		T	100235814	G	T	100235814	3	4	159	1	0	0	0	0	1	0	0	0	15732	1319	46	5	2023	5	TDRD7	9	100235814	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	18008214	100235814	40977617	64	11232											
HSDL2	84263	broad.mit.edu	37	chr9	115181194	115181194	+	Frame_Shift_Del	DEL	A	A	-																															tgtgcttggaatggcagaagAatttaaaggtgaaattgcag																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:115181194delA	ENST00000398805.3	+	6	781	c.554delA	c.(553-555)gaafs	p.E185fs	HSDL2_ENST00000539114.1_Intron|HSDL2_ENST00000398803.1_Frame_Shift_Del_p.E112fs|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Frame_Shift_Del_p.E65fs	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	185						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGGCAGAAGAATTTAAAGGT	0.284																																						uc004bga.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(553-555)gaafs		Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.							134	127	129					9																	115181194		1849	4081	5930	SO:0001589	frameshift_variant	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115181194delA	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.554delA	9.37:g.115181194delA	ENSP00000381785:p.Glu185fs					HSDL2_uc004bgc.2_Frame_Shift_Del_p.E112fs|HSDL2_uc004bgb.2_Frame_Shift_Del_p.N36fs|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Frame_Shift_Del_p.E64fs	p.E185fs	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN			5	809	+			185					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Frame_Shift_Del	DEL	ENST00000398805.3	37	c.554delA	CCDS43864.1																																																																																				0.284	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		-	115181194	A	-	115181194	7	5	159	1	0	1	0	1	0	0	0	0	7394	246	9	0	576	0	HSDL2	9	115181194	Frame_Shift_Del	DEL	A	TCGA-19-2629-01A-01D-1495-08	14945380	115181194	26032237	65	11233											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123313122	123313122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgttgcattctttccTcaaggaaatagatgcggagc	10	13	9	9	1	2	1	1	0	1	1	4	3	4	3	2	2	3	2	2	2	3	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:123313122T>A	ENST00000349780.4	-	4	433	c.254A>T	c.(253-255)gAg>gTg	p.E85V	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E85V|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E85V|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E85V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	85					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATTCTTTCCTCAAGGAAATA	0.383																																						uc004bkf.3																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(253-255)gAg>gTg		Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.							149	149	149					9																	123313122		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123313122T>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.254A>T	9.37:g.123313122T>A	ENSP00000343818:p.Glu85Val					CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	p.E85V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			3	435	-			85					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.254A>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952076	0.92660	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	6.08	6.08	0.98989	Spindle associated (1);	0.000000	0.64402	D	0.000014	T	0.63094	0.2482	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70321	-0.4904	10	0.87932	D	0	.	15.6338	0.76933	0.0:0.0:0.0:1.0	.	85;85;85	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	V	85	ENSP00000354065:E85V;ENSP00000352258:E85V;ENSP00000343818:E85V;ENSP00000353317:E85V	ENSP00000341695:E85V	E	-	2	0	CDK5RAP2	122352943	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.545000	0.82128	2.333000	0.79357	0.482000	0.46254	GAG		0.383	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123313122	T	A	123313122	3	1	159	1	0	0	0	0	1	0	0	0	3146	1551	54	5	5567	5	CDK5RAP2	9	123313122	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	8131928	123313122	17900309	66	11234											
TOR1A	1861	broad.mit.edu	37	chr9	132585088	132585088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgattttctttgcaagatgCtgtccaaagaggttgtcgtc	9	15	10	7	1	1	3	0	1	1	2	4	3	2	3	1	1	2	3	1	1	2	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:132585088C>T	ENST00000351698.4	-	2	264	c.216G>A	c.(214-216)caG>caA	p.Q72Q	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	72					ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGCAAGATGCTGTCCAAAGA	0.483																																						uc004byl.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(214-216)caG>caA		Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.							125	112	117					9																	132585088		2203	4300	6503	SO:0001819	synonymous_variant	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132585088C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.216G>A	9.37:g.132585088C>T						TOR1A_uc004byn.3_Silent_p.Q72Q	p.Q72Q	NM_000113	NP_000104	O14656	TOR1A_HUMAN			1	293	-		Ovarian(14;0.00556)	72					B2RB58|Q53Y64|Q96CA0	Silent	SNP	ENST00000351698.4	37	c.216G>A	CCDS6930.1																																																																																				0.483	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		T	132585088	C	T	132585088	2	4	159	1	0	0	0	0	0	0	0	1	16368	796	28	3		3	TOR1A	9	132585088	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	9271966	132585088	8628343	67	11235											
JMJD1C	221037	broad.mit.edu	37	chr10	64960280	64960282	+	In_Frame_Del	DEL	TTC	TTC	-																															aatactggtgagtgagctggTtcttctccttttttactgcg																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:64960280_64960282delTTC	ENST00000399262.2	-	11	5448_5450	c.5230_5232delGAA	c.(5230-5232)gaadel	p.E1744del	JMJD1C_ENST00000402544.1_In_Frame_Del_p.E1525del|JMJD1C_ENST00000542921.1_In_Frame_Del_p.E1562del|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1744					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTGAGCTGGTTCTTCTCCTTTT	0.35																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5230-5232)gaadel		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960280_64960282delTTC	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5230_5232delGAA	10.37:g.64960283_64960285delTTC	ENSP00000382204:p.Glu1744del					JMJD1C_uc001jml.3_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.3_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.3_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc009xpk.1_Intron	p.E1744del	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	5530_5532	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1744					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	In_Frame_Del	DEL	ENST00000399262.2	37	c.5230_5232delGAA	CCDS41532.1																																																																																				0.35	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		-	64960282	TTC	-	64960280	7	5	159	1	0	1	0	1	0	0	0	0	7950	1722	60	0	2454	0	JMJD1C	10	64960280	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08		64960280	70574467	68	11236											
CYP2E1	1571	broad.mit.edu	37	chr10	135351261	135351261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttctcctagggcacaGtcgtagtgccaactctggac	7	13	10	11	1	2	0	0	0	2	0	4	1	2	1	2	2	2	3	2	2	3	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:135351261G>C	ENST00000463117.2	+	10	1434	c.1162G>C	c.(1162-1164)Gtc>Ctc	p.V388L	CYP2E1_ENST00000252945.3_Missense_Mutation_p.V388L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	388					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTAGGGCACAGTCGTAGTGCC	0.398									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1162-1164)Gtc>Ctc		Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						91	85	87					10																	135351261		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135351261G>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1162G>C	10.37:g.135351261G>C	ENSP00000440689:p.Val388Leu					CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	p.V388L	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	1195	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	388					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1162G>C	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785857	0.16189	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.87	-0.357	0.12579	.	0.753028	0.13404	N	0.390432	T	0.45836	0.1362	N	0.20610	0.595	0.09310	N	1	B;B	0.21688	0.059;0.017	B;B	0.18871	0.023;0.006	T	0.26815	-1.0092	10	0.31617	T	0.26	.	8.1067	0.30890	0.5772:0.0:0.4228:0.0	.	284;388	Q59EW1;P05181	.;CP2E1_HUMAN	L	388;388;301;251	ENSP00000440689:V388L;ENSP00000252945:V388L;ENSP00000412754:V301L;ENSP00000397299:V251L	ENSP00000252945:V388L	V	+	1	0	CYP2E1	135201251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.022000	0.12480	0.047000	0.15862	-0.312000	0.09012	GTC		0.398	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		C	135351261	G	C	135351261	3	2	159	1	0	0	0	0	1	0	0	0	4170	1029	36	5	1192	5	CYP2E1	10	135351261	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	70390981	135351261	183486	69	11237											
CHRNA10	57053	broad.mit.edu	37	chr11	3687783	3687783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggtcatagtggccaTgtagtacttccctgcaagag	10	10	11	10	0	1	1	1	0	0	1	2	2	2	1	3	2	2	3	3	2	4	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:3687783T>C	ENST00000250699.2	-	5	978	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	CHRNA10_ENST00000534359.1_Silent_p.T120T|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000364409.1_RNA|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	303					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	ATAGTGGCCATGTAGTACTTC	0.507																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(907-909)Atg>Gtg		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						76	74	75					11																	3687783		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687783T>C	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.907A>G	11.37:g.3687783T>C	ENSP00000250699:p.Met303Val					CHRNA10_uc010qxt.2_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.2_Missense_Mutation_p.M97V	p.M303V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	979	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	303						Missense_Mutation	SNP	ENST00000250699.2	37	c.907A>G	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623424	0.46840	.	.	ENSG00000129749	ENST00000250699	D	0.83992	-1.79	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.078967	0.56097	D	0.000040	T	0.73729	0.3624	N	0.20881	0.62	0.80722	D	1	B	0.22683	0.073	B	0.20577	0.03	T	0.70081	-0.4970	10	0.41790	T	0.15	.	14.4483	0.67367	0.0:0.0:0.0:1.0	.	303	Q9GZZ6	ACH10_HUMAN	V	303	ENSP00000250699:M303V	ENSP00000250699:M303V	M	-	1	0	CHRNA10	3644359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.091000	0.63221	0.459000	0.35465	ATG		0.507	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			C	3687783	T	C	3687783	3	2	159	1	0	0	0	0	1	0	0	0	3382	1464	51	4	449	4	CHRNA10	11	3687783	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08		3687783	131318733	70	11238											
CNGA4	1262	broad.mit.edu	37	chr11	6261617	6261617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtacctgggcttcgggcGtgacgcatgggtgtacccgg	4	8	17	12	5	0	1	0	1	0	0	1	1	0	1	3	5	2	4	3	5	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:6261617G>A	ENST00000379936.2	+	4	708	c.593G>A	c.(592-594)cGt>cAt	p.R198H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	198					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTCGGGCGTGACGCATGG	0.547																																						uc001mco.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(592-594)cGt>cAt		Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.							62	66	65					11																	6261617		2200	4295	6495	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261617G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.593G>A	11.37:g.6261617G>A	ENSP00000369268:p.Arg198His					CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R158H	p.R198H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	708	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	198						Missense_Mutation	SNP	ENST00000379936.2	37	c.593G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380601	0.24944	.	.	ENSG00000132259	ENST00000379936	D	0.98531	-4.98	5.25	4.33	0.51752	Ion transport (1);	0.529460	0.21971	N	0.066444	D	0.91640	0.7358	N	0.14661	0.345	0.20703	N	0.999862	B;P	0.52463	0.124;0.953	B;B	0.30316	0.033;0.114	D	0.87342	0.2332	10	0.59425	D	0.04	.	5.8619	0.18752	0.1702:0.1597:0.6701:0.0	.	198;158	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	H	198	ENSP00000369268:R198H	ENSP00000369268:R198H	R	+	2	0	CNGA4	6218193	0.000000	0.05858	0.848000	0.33437	0.333000	0.28666	0.417000	0.21214	1.342000	0.45619	0.650000	0.86243	CGT		0.547	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		A	6261617	G	A	6261617	3	1	159	1	0	0	0	0	1	0	0	0	3599	1145	40	1	607	1	CNGA4	11	6261617	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2573834	6261617	128744899	71	11239											
OR10A6	390093	broad.mit.edu	37	chr11	7950020	7950020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccacagataagttcaGgagaaacaggtacatgggaa	16	6	11	8	0	1	2	1	0	0	2	2	4	2	3	2	3	2	2	2	3	4	3	rs141585665	byFrequency	TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:7950020G>A	ENST00000309838.2	-	1	189	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATAAGTTCAGGAGAAACAGG	0.443													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		18002	0		0	False		,,,				2504	0					uc010rbh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(190-192)Ctg>Ttg		Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.		G		5,4397	9.9+/-24.2	0,5,2196	119	114	116		190	2.1	0.9	11	dbSNP_134	116	0,8592		0,0,4296	no	coding-synonymous	OR10A6	NM_001004461.1		0,5,6492	AA,AG,GG		0.0,0.1136,0.0385		64/315	7950020	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950020G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.190C>T	11.37:g.7950020G>A							p.L64L	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	190	-			64					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.190C>T	CCDS31420.1																																																																																				0.443	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		A	7950020	G	A	7950020	2	1	159	1	0	0	0	0	0	0	0	1	10894	991	35	3		3	OR10A6	11	7950020	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	1688403	7950020	127056496	72	11240											
SYT13	57586	broad.mit.edu	37	chr11	45268002	45268002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcagcaccaccaggaggCggttggcagccgggaggtag	10	5	16	10	2	1	0	1	0	0	0	1	2	1	2	3	6	2	4	3	6	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:45268002C>T	ENST00000020926.3	-	5	1019	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACCAGGAGGCGGTTGGCAGC	0.572																																						uc001myq.2																			0		p.N302N(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(907-909)cGc>cAc		Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.							69	67	68					11																	45268002		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45268002C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.908G>A	11.37:g.45268002C>T	ENSP00000020926:p.Arg303His					SYT13_uc009yku.1_Missense_Mutation_p.R159H	p.R303H	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN			4	1034	-			303			C2 2.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.908G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017168	0.93404	.	.	ENSG00000019505	ENST00000020926	T	0.09630	2.96	5.24	5.24	0.73138	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.36114	-0.9761	10	0.87932	D	0	.	18.8357	0.92162	0.0:1.0:0.0:0.0	.	303	Q7L8C5	SYT13_HUMAN	H	303	ENSP00000020926:R303H	ENSP00000020926:R303H	R	-	2	0	SYT13	45224578	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.242000	0.72376	2.448000	0.82819	0.561000	0.74099	CGC		0.572	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		T	45268002	C	T	45268002	3	4	159	1	0	0	0	0	1	0	0	0	15466	768	27	1	380	1	SYT13	11	45268002	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	37317982	45268002	89738514	73	11241											
PSMC3	5702	broad.mit.edu	37	chr11	47446172	47446173	+	Frame_Shift_Del	DEL	TT	TT	-																															gctcacctgtcgtgtagaggTtttgatcacagcacacttgc																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:47446172_47446173delTT	ENST00000298852.3	-	4	532_533	c.375_376delAA	c.(373-378)aaaaccfs	p.KT125fs	PSMC3_ENST00000602866.1_Frame_Shift_Del_p.KT109fs|PSMC3_ENST00000530912.1_Frame_Shift_Del_p.KT83fs	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K125N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGTAGAGGTTTTGATCACAG	0.545																																						uc001nfh.2																			1	Substitution - Missense(1)	p.K125N(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17						c.(373-378)aaaaccfs		Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.																																				SO:0001589	frameshift_variant	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47446172_47446173delTT	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.375_376delAA	11.37:g.47446174_47446175delTT	ENSP00000298852:p.Lys125fs						p.K125fs	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	569_570	-			125					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Frame_Shift_Del	DEL	ENST00000298852.3	37	c.375_376delAA	CCDS7935.1																																																																																				0.545	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		-	47446173	TT	-	47446172	7	5	159	1	0	1	0	1	0	0	0	0	12687	1725	60	0	979	0	PSMC3	11	47446172	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08	2178170	47446172	87560344	74	11242											
SSRP1	6749	broad.mit.edu	37	chr11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-																															ctggggggagtactggctagTtcttcttcttcagagtcctg																								rs142261788		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:57093935_57093937delTTC	ENST00000278412.2	-	17	2340_2342	c.2074_2076delGAA	c.(2074-2076)gaadel	p.E692del	RP11-872D17.4_ENST00000534162.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	692	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TACTGGCTAGTTCTTCTTCTTCA	0.552																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(2074-2076)gaadel		Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.																																				SO:0001651	inframe_deletion	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57093935_57093937delTTC	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2074_2076delGAA	11.37:g.57093944_57093946delTTC	ENSP00000278412:p.Glu692del					TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	p.E692del	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			16	2341_2343	-			692			Ser-rich.		Q5BJG8	In_Frame_Del	DEL	ENST00000278412.2	37	c.2074_2076delGAA	CCDS7952.1																																																																																				0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		-	57093937	TTC	-	57093935	7	5	159	1	0	1	0	1	0	0	0	0	15193	1722	60	0	57	0	SSRP1	11	57093935	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	9647763	57093935	77912581	75	11243											
ODZ4	26011	broad.mit.edu	37	chr11	78440577	78440577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgaggttgaaggggaTggtcgggtgggtgaggctga	7	10	20	4	1	1	4	1	4	0	0	2	5	1	5	0	7	0	2	0	7	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:78440577T>C	ENST00000278550.7	-	22	3712	c.3250A>G	c.(3250-3252)Atc>Gtc	p.I1084V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1084					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTGAAGGGGATGGTCGGGTGG	0.567																																						uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3250-3252)Atc>Gtc		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							59	66	64					11																	78440577		1979	4152	6131	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78440577T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3250A>G	11.37:g.78440577T>C	ENSP00000278550:p.Ile1084Val						p.I1084V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			21	3713	-			1084					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3250A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127512	0.56721	.	.	ENSG00000149256	ENST00000278550	D	0.89875	-2.58	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	N	0.10782	0.045	0.51767	D	0.999938	P	0.48640	0.913	P	0.61592	0.891	D	0.85804	0.1375	9	.	.	.	.	14.3756	0.66874	0.0:0.0:0.0:1.0	.	1084	Q6N022	TEN4_HUMAN	V	1084	ENSP00000278550:I1084V	.	I	-	1	0	ODZ4	78118225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.921000	0.63397	1.974000	0.57490	0.402000	0.26972	ATC		0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			C	78440577	T	C	78440577	3	2	159	1	0	0	0	0	1	0	0	0	10837	1464	51	4	5111	4	ODZ4	11	78440577	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	21346642	78440577	56565939	76	11244											
TMEM126B	55863	broad.mit.edu	37	chr11	85342819	85342819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaatggtcatagaaatcaTagaaaaaaattttgactatc	19	11	5	6	0	2	3	2	1	0	2	3	3	2	3	1	1	0	0	1	1	8	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:85342819T>C	ENST00000358867.6	+	2	193	c.170T>C	c.(169-171)aTa>aCa	p.I57T	TMEM126B_ENST00000393375.1_Missense_Mutation_p.I27T|TMEM126B_ENST00000534341.1_Missense_Mutation_p.I57T	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	57						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAGAAATCATAGAAAAAAAT	0.353																																						uc001pap.3																			0				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(169-171)aTa>aCa		Homo sapiens transmembrane protein 126B (TMEM126B), transcript variant 1, mRNA.							45	43	44					11																	85342819		2203	4299	6502	SO:0001583	missense	55863					integral to membrane		g.chr11:85342819T>C		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"Mitochondrial respiratory chain complex assembly factors"	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.170T>C	11.37:g.85342819T>C	ENSP00000351737:p.Ile57Thr					TMEM126B_uc001pan.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.2_Missense_Mutation_p.I57T|TMEM126B_uc001pao.3_Missense_Mutation_p.I27T|TMEM126B_uc021qog.1_Missense_Mutation_p.I37T|TMEM126B_uc021qoh.1_Intron	p.I57T	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN			1	200	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	57					A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.170T>C	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	T	19.64	3.864670	0.71949	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375	T;T;T	0.39056	1.1;1.1;1.1	4.89	4.89	0.63831	.	0.524779	0.22179	N	0.063538	T	0.57607	0.2065	M	0.73598	2.24	0.41050	D	0.985298	P;P	0.52577	0.954;0.944	P;P	0.57057	0.812;0.714	T	0.60146	-0.7320	9	.	.	.	.	12.2842	0.54783	0.0:0.0:0.0:1.0	.	57;27	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	T	57;57;27	ENSP00000351737:I57T;ENSP00000433471:I57T;ENSP00000377039:I27T	.	I	+	2	0	TMEM126B	85020467	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.821000	0.55700	2.188000	0.69820	0.533000	0.62120	ATA		0.353	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		C	85342819	T	C	85342819	3	2	159	1	0	0	0	0	1	0	0	0	16036	1406	49	4	82	4	TMEM126B	11	85342819	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	6902242	85342819	49663697	77	11245											
FOLH1B	219595	broad.mit.edu	37	chr11	89424051	89424054	+	RNA	DEL	AAAC	AAAC	-																															tttgttattttttctgtaggAaacaaacaaattcagcggct																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:89424051_89424054delAAAC	ENST00000532352.1	+	0	1514_1517							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.T235I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTGTAGGAAACAAACAAATTC	0.319																																						uc001pda.3																			1	Substitution - Missense(1)	p.T235I(2)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						c.(700-705)gaaacafs		Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424051_89424054delAAAC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424055_89424058delAAAC							p.E234fs	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			10	1227_1230	+			234						Frame_Shift_Del	DEL	ENST00000532352.1	37	c.701_704delAAAC																																																																																					0.319	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		-	89424054	AAAC	-	89424051	6	5	159	0	1	1	0	1	0	0	0	0	5980	260	9	0		0	FOLH1B	11	89424051	RNA	DEL	AAAC	TCGA-19-2629-01A-01D-1495-08	4081232	89424051	45582465	78	11246											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840825	128840825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccatcatcctggtggggGgcagtggtgcaggaaagcca	8	8	15	10	0	2	0	1	0	1	0	4	1	3	1	3	6	2	2	3	6	1	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:128840825G>C	ENST00000310343.9	-	22	4240	c.4241C>G	c.(4240-4242)cCc>cGc	p.P1414R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1065R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1065R|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1414	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGTGGGGGGCAGTGGTGC	0.592																																						uc009zcp.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4240-4242)cCc>cGc		Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.							72	68	69					11																	128840825		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840825G>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4241C>G	11.37:g.128840825G>C	ENSP00000310561:p.Pro1414Arg					ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1065R	p.P1414R	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN			21	4241	-			1414			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4241C>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058282	0.76074	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.40756	1.14;1.02;1.02	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.68952	2.095	0.58432	D	0.999998	D	0.63880	0.993	P	0.60682	0.878	T	0.60480	-0.7255	10	0.52906	T	0.07	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	1414	A7KAX9	RHG32_HUMAN	R	1414;1065;1065	ENSP00000310561:P1414R;ENSP00000376425:P1065R;ENSP00000432862:P1065R	ENSP00000310561:P1414R	P	-	2	0	ARHGAP32	128346035	1.000000	0.71417	0.624000	0.29186	0.411000	0.31082	8.988000	0.93501	2.825000	0.97269	0.655000	0.94253	CCC		0.592	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		C	128840825	G	C	128840825	3	2	159	1	0	0	0	0	1	0	0	0	881	1232	43	5	2026	5	ARHGAP32	11	128840825	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	39416774	128840825	6165691	79	11247											
KIAA1467	57613	broad.mit.edu	37	chr12	13208755	13208755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggtgtcatatgtgcGcacgtctgtcttcctgctga	4	14	10	13	2	3	1	1	1	2	0	5	1	5	1	2	1	2	2	2	1	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:13208755G>A	ENST00000197268.8	+	2	428	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	103						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCATATGTGCGCACGTCTGTC	0.587																																						uc001rbi.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(307-309)cGc>cAc		Homo sapiens KIAA1467 (KIAA1467), mRNA.							102	88	93					12																	13208755		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208755G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.308G>A	12.37:g.13208755G>A	ENSP00000197268:p.Arg103His						p.R103H	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	1	331	+		Prostate(47;0.184)	103					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.308G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	g	31	5.090377	0.94149	.	.	ENSG00000084444	ENST00000197268	T	0.28255	1.62	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.78456	2.415	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.64266	-0.6448	10	0.87932	D	0	-8.4903	19.0711	0.93136	0.0:0.0:1.0:0.0	.	103	A2RU67	K1467_HUMAN	H	103	ENSP00000197268:R103H	ENSP00000197268:R103H	R	+	2	0	KIAA1467	13100022	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.282000	0.78630	2.495000	0.84180	0.598000	0.82781	CGC		0.587	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		A	13208755	G	A	13208755	3	1	159	1	0	0	0	0	1	0	0	0	8235	1087	38	1	314	1	KIAA1467	12	13208755	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		13208755	120643140	80	11248											
HIST4H4	121504	broad.mit.edu	37	chr12	14923761	14923761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcagcgcgtacaccacAtccatggccgtgacggtctt	7	10	10	14	5	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	1	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:14923761A>G	ENST00000539745.1	-	1	304	c.258T>C	c.(256-258)gaT>gaC	p.D86D	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	86					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGTACACCACATCCATGGCCG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rcf.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						c.(256-258)gaT>gaC		Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.							105	88	94					12																	14923761		2203	4300	6503	SO:0001819	synonymous_variant	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14923761A>G	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.258T>C	12.37:g.14923761A>G			OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	698	HIST4H4_uc001rce.3_Non-coding_Transcript	p.D86D	NM_175054	NP_778224	P62805	H4_HUMAN			0	305	-			86					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000539745.1	37	c.258T>C	CCDS8665.1																																																																																				0.587	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		G	14923761	A	G	14923761	2	3	159	1	0	0	0	0	0	0	0	1	7185	214	8	4		4	HIST4H4	12	14923761	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	1715006	14923761	118928134	81	11249											
ARID2	196528	broad.mit.edu	37	chr12	46245922	46245923	+	Frame_Shift_Del	DEL	AG	AG	-																															gaatggagcatctgggaaacAgaactcagaacaaatagaca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:46245922_46245923delAG	ENST00000334344.6	+	15	4188_4189	c.4016_4017delAG	c.(4015-4017)cagfs	p.Q1339fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.Q1190fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Frame_Shift_Del_p.Q949fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1339					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGGGAAACAGAACTCAGAAC	0.371			"N, S, F"		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4015-4017)cagfs		Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245922_46245923delAG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4016_4017delAG	12.37:g.46245922_46245923delAG	ENSP00000335044:p.Gln1339fs					ARID2_uc001ror.3_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	p.Q1339fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	4016_4017	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1339					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.4016_4017delAG	CCDS31783.1																																																																																				0.371	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		-	46245923	AG	-	46245922	7	5	159	1	0	1	0	1	0	0	0	0	915	188	7	0	4074	0	ARID2	12	46245922	Frame_Shift_Del	DEL	AG	TCGA-19-2629-01A-01D-1495-08	31322161	46245922	87605973	82	11250											
FREM2	341640	broad.mit.edu	37	chr13	39425866	39425866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaatttagtgtcactgaAcccaaagaacctggagagtc	15	8	8	10	0	1	3	1	1	0	2	2	4	1	3	3	1	2	0	3	1	5	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:39425866A>G	ENST00000280481.7	+	11	7002	c.6786A>G	c.(6784-6786)gaA>gaG	p.E2262E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2262	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGTCACTGAACCCAAAGAAC	0.398																																						uc001uwv.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6784-6786)gaA>gaG		Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.							55	56	56					13																	39425866		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425866A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6786A>G	13.37:g.39425866A>G						FREM2_uc001uww.3_Silent_p.E348E	p.E2262E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	7095	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2262			Calx-beta 5.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.6786A>G	CCDS31960.1																																																																																				0.398	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39425866	A	G	39425866	2	3	159	1	0	0	0	0	0	0	0	1	6045	40	2	4		4	FREM2	13	39425866	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08		39425866	75744012	83	11251											
AKAP11	11215	broad.mit.edu	37	chr13	42877884	42877884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgagcgagagctgagcAgtaccagcctggcagccgac	11	4	14	12	2	0	3	0	2	0	1	0	5	0	3	3	1	7	5	3	1	2	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:42877884A>G	ENST00000025301.2	+	8	5177	c.5002A>G	c.(5002-5004)Agt>Ggt	p.S1668G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1668					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAGCTGAGCAGTACCAGCCT	0.507																																						uc001uys.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(5002-5004)Agt>Ggt		Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.							37	36	36					13																	42877884		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877884A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5002A>G	13.37:g.42877884A>G	ENSP00000025301:p.Ser1668Gly						p.S1668G	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	7	5177	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1668					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.5002A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	4.112	0.018934	0.08006	.	.	ENSG00000023516	ENST00000025301	T	0.45668	0.89	5.67	5.67	0.87782	.	0.165154	0.49916	D	0.000133	T	0.23451	0.0567	N	0.08118	0	0.19775	N	0.99996	B	0.13145	0.007	B	0.06405	0.002	T	0.12811	-1.0533	10	0.30854	T	0.27	.	11.6813	0.51458	0.8599:0.0:0.0:0.1401	.	1668	Q9UKA4	AKA11_HUMAN	G	1668	ENSP00000025301:S1668G	ENSP00000025301:S1668G	S	+	1	0	AKAP11	41775884	0.992000	0.36948	0.880000	0.34516	0.032000	0.12392	3.899000	0.56288	2.148000	0.66965	0.482000	0.46254	AGT		0.507	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		G	42877884	A	G	42877884	3	3	159	1	0	0	0	0	1	0	0	0	447	188	7	4	5024	4	AKAP11	13	42877884	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	3452018	42877884	72291994	84	11252											
RCBTB2	1102	broad.mit.edu	37	chr13	49089796	49089796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctgacgaattaactgtaGttcttcttcagaacaaaggg	13	11	9	8	1	3	2	1	1	2	1	3	3	3	2	1	1	3	2	1	1	5	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:49089796G>C	ENST00000344532.3	-	5	547	c.124C>G	c.(124-126)Cta>Gta	p.L42V	RCBTB2_ENST00000544904.1_Missense_Mutation_p.L18V|RCBTB2_ENST00000430805.2_Missense_Mutation_p.L47V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	42					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATTAACTGTAGTTCTTCTTCA	0.363																																						uc010tgg.2																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(139-141)Cta>Gta		Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.							85	88	87					13																	49089796		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49089796G>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.124C>G	13.37:g.49089796G>C	ENSP00000345144:p.Leu42Val					RCBTB2_uc001vci.3_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.2_5'UTR|RCBTB2_uc001vch.3_Missense_Mutation_p.L42V|RCBTB2_uc001vcj.3_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V	p.L47V	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	3	430	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	42					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.139C>G	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387308	0.25031	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904	T;T;T	0.62364	0.03;0.04;0.85	6.04	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	L	0.49513	1.565	0.46458	D	0.999056	B;B;B;B	0.20887	0.049;0.003;0.028;0.003	B;B;B;B	0.18871	0.023;0.004;0.023;0.008	T	0.33266	-0.9875	10	0.11485	T	0.65	.	5.4475	0.16544	0.1925:0.0:0.5619:0.2455	.	18;47;46;42	B4DPP7;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	V	42;46;47;47;18	ENSP00000345144:L42V;ENSP00000389910:L47V;ENSP00000443904:L18V	ENSP00000345144:L42V	L	-	1	2	RCBTB2	47987797	0.994000	0.37717	0.912000	0.35992	0.984000	0.73092	2.216000	0.42871	1.537000	0.49254	0.561000	0.74099	CTA		0.363	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		C	49089796	G	C	49089796	3	2	159	1	0	0	0	0	1	0	0	0	13172	1020	36	5	1575	5	RCBTB2	13	49089796	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	6211912	49089796	66080082	85	11253											
RNASE4	6038	broad.mit.edu	37	chr14	21167918	21167918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatagcgagcactagaCgtgttgtcattgcctgtgag	8	10	14	9	2	1	2	1	1	0	1	1	3	1	2	2	1	3	2	2	1	2	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:21167918C>T	ENST00000555835.1	+	2	1064	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.R130C|RNASE4_ENST00000397995.2_Missense_Mutation_p.R130C|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Missense_Mutation_p.R130C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	130					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GAGCACTAGACGTGTTGTCAT	0.527																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc021rol.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(388-390)Cgt>Tgt		Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.							129	117	121					14																	21167918		2203	4299	6502	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167918C>T	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"Ribonucleases, RNase A"	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.388C>T	14.37:g.21167918C>T	ENSP00000452245:p.Arg130Cys					RNASE4_uc001vxy.4_Missense_Mutation_p.R130C|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R130C	p.R130C	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	0	388	+	all_cancers(95;0.00304)		130						Missense_Mutation	SNP	ENST00000555835.1	37	c.388C>T	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874291	0.33069	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.8	4.91	0.64330	Ribonuclease A, domain (4);	0.492459	0.22254	N	0.062513	T	0.39118	0.1066	M	0.72118	2.19	0.09310	N	0.999995	B	0.33612	0.419	B	0.23150	0.044	T	0.42241	-0.9463	10	0.54805	T	0.06	-4.916	11.1289	0.48334	0.0:0.915:0.0:0.085	.	130	P34096	RNAS4_HUMAN	C	130	ENSP00000452245:R130C;ENSP00000381081:R130C;ENSP00000451624:R130C;ENSP00000381087:R130C;ENSP00000307096:R130C;ENSP00000381085:R130C	ENSP00000307096:R130C	R	+	1	0	AL163636.2;RNASE4	20237758	0.018000	0.18449	0.015000	0.15790	0.732000	0.41865	1.520000	0.35899	1.598000	0.50083	0.650000	0.86243	CGT		0.527	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			T	21167918	C	T	21167918	3	4	159	1	0	0	0	0	1	0	0	0	13406	536	19	1	390	1	RNASE4	14	21167918	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		21167918	86181622	86	11254											
GMPR2	51292	broad.mit.edu	37	chr14	24707579	24707581	+	In_Frame_Del	DEL	GAA	GAA	-																															atgagttctgaaatggccatGaagaagtatgctgggggcgt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:24707579_24707581delGAA	ENST00000355299.4	+	9	1286_1288	c.825_827delGAA	c.(823-828)atgaag>atg	p.K277del	GMPR2_ENST00000559910.1_In_Frame_Del_p.K244del|GMPR2_ENST00000559104.1_In_Frame_Del_p.K262del|GMPR2_ENST00000420554.2_In_Frame_Del_p.K295del|GMPR2_ENST00000399440.2_In_Frame_Del_p.K277del|GMPR2_ENST00000557854.1_In_Frame_Del_p.K295del|GMPR2_ENST00000559836.1_In_Frame_Del_p.K277del|GMPR2_ENST00000456667.3_In_Frame_Del_p.K249del|GMPR2_ENST00000348719.7_In_Frame_Del_p.K277del	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	277					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AAATGGCCATGAAGAAGTATGCT	0.537																																						uc001wnr.3																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(823-828)atgaag>atg		Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707579_24707581delGAA		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.825_827delGAA	14.37:g.24707582_24707584delGAA	ENSP00000347449:p.Lys277del					GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wns.3_In_Frame_Del_p.K277del|GMPR2_uc001wnv.3_In_Frame_Del_p.K114del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc001wnw.3_In_Frame_Del_p.K277del|GMPR2_uc001wnx.3_In_Frame_Del_p.K295del|GMPR2_uc010all.3_In_Frame_Del_p.K249del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	p.K277del	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	8	1207_1209	+			277					D3DS66|Q567T0|Q6IAJ8|Q86T14	In_Frame_Del	DEL	ENST00000355299.4	37	c.825_827delGAA	CCDS41935.1																																																																																				0.537	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		-	24707581	GAA	-	24707579	7	5	159	1	0	1	0	1	0	0	0	0	6497	1290	45	0	909	0	GMPR2	14	24707579	In_Frame_Del	DEL	GAA	TCGA-19-2629-01A-01D-1495-08	3539661	24707579	82641961	87	11255											
DUOX2	50506	broad.mit.edu	37	chr15	45401132	45401132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtctgtacgggagaatttgCcagggccaggccagtaatct	10	9	13	9	1	2	1	0	0	2	1	2	2	2	1	3	3	2	2	3	3	3	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:45401132C>T	ENST00000603300.1	-	12	1455	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	DUOX2_ENST00000389039.6_Missense_Mutation_p.G418D	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	418	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAGAATTTGCCAGGGCCAGG	0.552																																						uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63	GRCh37	CD060597	DUOX2	D		c.(1252-1254)gGc>gAc		Homo sapiens dual oxidase 2 (DUOX2), mRNA.							48	51	50					15																	45401132		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45401132C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1253G>A	15.37:g.45401132C>T	ENSP00000475084:p.Gly418Asp					DUOX2_uc010bea.3_Missense_Mutation_p.G418D	p.G418D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	11	1456	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	418			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1253G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414003	0.42817	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.11	0.447	0.16608	.	0.686987	0.15094	N	0.280928	T	0.38983	0.1061	M	0.67397	2.05	0.24081	N	0.995941	B	0.06786	0.001	B	0.15870	0.014	T	0.31392	-0.9945	9	0.37606	T	0.19	-5.5753	3.5223	0.07747	0.2634:0.2995:0.0:0.4371	.	418	Q9NRD8	DUOX2_HUMAN	D	418	.	ENSP00000373691:G418D	G	-	2	0	DUOX2	43188424	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	1.600000	0.36762	0.039000	0.15632	0.467000	0.42956	GGC		0.552	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45401132	C	T	45401132	3	4	159	1	0	0	0	0	1	0	0	0	4801	739	26	3	3485	3	DUOX2	15	45401132	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		45401132	57130260	88	11256											
ALDH1A2	8854	broad.mit.edu	37	chr15	58256142	58256142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactacgcgcctcttggcccGctccacgcttcttctcacaa	6	10	6	19	4	3	0	1	0	3	0	5	0	4	0	3	1	1	2	3	1	2	4	rs137957671		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:58256142G>A	ENST00000249750.4	-	9	1794	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R322W|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R314W|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R247W|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R305W	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	343					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CTCTTGGCCCGCTCCACGCTT	0.527																																						uc002aex.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1027-1029)Cgg>Tgg		Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4384		0,0,2192	79	80	80		964,1027,913,739	2.6	1	15	dbSNP_134	80	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense,missense,missense	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2,NM_170697.2	101,101,101,101	0,1,6483	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	322/498,343/519,305/481,247/423	58256142	1,12967	2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256142G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1027C>T	15.37:g.58256142G>A	ENSP00000249750:p.Arg343Trp					ALDH1A2_uc010ugv.2_Missense_Mutation_p.R322W|ALDH1A2_uc002aey.3_Missense_Mutation_p.R305W|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.3_Missense_Mutation_p.R247W	p.R343W	NM_003888	NP_733798	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	8	1300	-			343					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1027C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875752	0.72180	0.0	1.16E-4	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78003	-1.14;-1.14;-1.14	5.6	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;P;D;D	0.83275	0.831;0.74;0.996;0.994	D	0.89862	0.4017	10	0.87932	D	0	.	14.8482	0.70275	0.0:0.0:0.6136:0.3864	.	314;322;305;343	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	W	343;247;314;305;322	ENSP00000249750:R343W;ENSP00000309623:R305W;ENSP00000438296:R322W	ENSP00000249750:R343W	R	-	1	2	ALDH1A2	56043434	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	2.524000	0.45589	0.338000	0.23692	-0.188000	0.12872	CGG		0.527	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			A	58256142	G	A	58256142	3	1	159	1	0	0	0	0	1	0	0	0	491	1086	38	1	549	1	ALDH1A2	15	58256142	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	12855010	58256142	44275250	89	11257											
SCAPER	49855	broad.mit.edu	37	chr15	77059334	77059336	+	In_Frame_Del	DEL	TTC	TTC	-																															tcaatttctctagttaactgTtcttcttcagcaatagcact																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:77059334_77059336delTTC	ENST00000563290.1	-	11	1437_1439	c.1342_1344delGAA	c.(1342-1344)gaadel	p.E448del	SCAPER_ENST00000538941.2_In_Frame_Del_p.E202del|SCAPER_ENST00000324767.7_In_Frame_Del_p.E448del			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	448	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAGTTAACTGTTCTTCTTCAGCA	0.355																																						uc002bby.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1342-1344)gaadel		Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77059334_77059336delTTC	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1342_1344delGAA	15.37:g.77059340_77059342delTTC	ENSP00000454973:p.Glu448del					SCAPER_uc002bbx.3_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del	p.E448del	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			9	1401_1403	-			447			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	In_Frame_Del	DEL	ENST00000563290.1	37	c.1342_1344delGAA	CCDS53962.1																																																																																				0.355	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		-	77059336	TTC	-	77059334	7	5	159	1	0	1	0	1	0	0	0	0	13878	1722	60	0	2946	0	SCAPER	15	77059334	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	18803192	77059334	25472058	90	11258											
SLC28A1	9154	broad.mit.edu	37	chr15	85476431	85476431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccccttgtgccttggCcctctccaagctggtctacc	3	11	10	17	0	2	0	0	0	2	0	3	0	2	0	6	3	4	2	6	3	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:85476431C>T	ENST00000286749.3	+	12	1229	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A380V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A380V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A380V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	380					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGTGCCTTGGCCCTCTCCAAG	0.562																																						uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1138-1140)gCc>gTc		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.							162	137	145					15																	85476431		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476431C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1139C>T	15.37:g.85476431C>T	ENSP00000286749:p.Ala380Val					SLC28A1_uc010bnb.3_Missense_Mutation_p.A380V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	p.A380V	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	1341	+			380					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1139C>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823597	0.90873	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	4.4	3.46	0.39613	Na dependent nucleoside transporter, C-terminal (1);	0.164292	0.53938	D	0.000052	T	0.18383	0.0441	L	0.53561	1.675	0.80722	D	1	D;P;D	0.76494	0.999;0.929;0.999	D;P;D	0.74023	0.973;0.839;0.982	T	0.00386	-1.1772	10	0.87932	D	0	-8.3774	11.9652	0.53031	0.0:0.8233:0.1767:0.0	.	380;380;380	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	380	ENSP00000440546:A380V;ENSP00000444700:A380V;ENSP00000286749:A380V;ENSP00000378074:A380V	ENSP00000286749:A380V	A	+	2	0	SLC28A1	83277435	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	2.980000	0.49321	1.035000	0.39972	0.563000	0.77884	GCC		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85476431	C	T	85476431	3	4	159	1	0	0	0	0	1	0	0	0	14531	739	26	3	1252	3	SLC28A1	15	85476431	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	8417097	85476431	17054961	91	11259											
MVP	9961	broad.mit.edu	37	chr16	29855969	29855969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccataagaactcagcccGcatcattcgcactgctgtct	9	11	6	15	2	3	1	2	0	1	1	5	1	4	1	2	0	3	3	2	0	2	3	rs377434387		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:29855969G>A	ENST00000357402.5	+	11	1928	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	MVP_ENST00000395353.1_Missense_Mutation_p.R597H	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	597					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AACTCAGCCCGCATCATTCGC	0.617																																						uc002dui.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1789-1791)cGc>cAc		Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.		G	HIS/ARG,HIS/ARG	0,4394		0,0,2197	110	100	103		1790,1790	5	1	16		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MVP	NM_005115.4,NM_017458.3	29,29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	597/894,597/894	29855969	1,12993	2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855969G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1790G>A	16.37:g.29855969G>A	ENSP00000349977:p.Arg597His					BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R597H|MVP_uc010vea.2_Missense_Mutation_p.R191H	p.R597H	NM_005115	NP_059447	Q14764	MVP_HUMAN			10	1942	+			597					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1790G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948226	0.92593	0.0	1.16E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.45276	0.9;0.9	5.91	4.96	0.65561	Shoulder domain (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.63821	-0.6550	10	0.49607	T	0.09	-5.8926	13.076	0.59087	0.0777:0.0:0.9223:0.0	.	597	Q14764	MVP_HUMAN	H	597	ENSP00000349977:R597H;ENSP00000378760:R597H	ENSP00000349977:R597H	R	+	2	0	MVP	29763470	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	8.396000	0.90190	1.512000	0.48834	0.655000	0.94253	CGC		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29855969	G	A	29855969	3	1	159	1	0	0	0	0	1	0	0	0	9996	1087	38	1	1828	1	MVP	16	29855969	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		29855969	60498784	92	11260											
MT1A	4489	broad.mit.edu	37	chr16	56673190	56673190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtggctcctgcaccTgcactggctcctgcaaatgc	6	10	11	14	0	0	0	0	0	0	0	2	0	2	0	3	3	5	6	3	3	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56673190T>C	ENST00000290705.8	+	2	116	c.43T>C	c.(43-45)Tgc>Cgc	p.C15R	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	15	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCCTGCACCTGCACTGGCTC	0.512																																						uc002ejq.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(43-45)Tgc>Cgc		Homo sapiens metallothionein 1A (MT1A), mRNA.							84	81	82					16																	56673190		2198	4300	6498	SO:0001583	missense	4489					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56673190T>C	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"Metallothioneins"	7393	protein-coding gene	gene with protein product		156350	"metallothionein 1S"	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.43T>C	16.37:g.56673190T>C	ENSP00000290705:p.Cys15Arg					MT1A_uc002eji.3_Intron	p.C15R	NM_005946	NP_005937	P04731	MT1A_HUMAN			1	116	+			15			Beta.		Q86YX5	Missense_Mutation	SNP	ENST00000290705.8	37	c.43T>C	CCDS32454.1	.	.	.	.	.	.	.	.	.	.	T	9.502	1.103425	0.20632	.	.	ENSG00000205362	ENST00000290705	T	0.34667	1.35	3.15	3.15	0.36227	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000003	T	0.55449	0.1921	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57171	-0.7857	9	0.54805	T	0.06	.	9.2532	0.37568	0.0:0.0:0.0:1.0	.	15	P04731	MT1A_HUMAN	R	15	ENSP00000290705:C15R	ENSP00000290705:C15R	C	+	1	0	MT1A	55230691	0.987000	0.35691	0.142000	0.22268	0.045000	0.14185	3.921000	0.56454	1.418000	0.47098	0.374000	0.22700	TGC		0.512	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		C	56673190	T	C	56673190	3	2	159	1	0	0	0	0	1	0	0	0	9897	1580	55	4	49	4	MT1A	16	56673190	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	26817221	56673190	33681563	93	11261											
SLC12A3	6559	broad.mit.edu	37	chr16	56901059	56901059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatgggctggtggagggCgaggcaggcaccagcagcga	9	4	19	9	2	0	1	0	1	0	0	0	4	0	2	1	6	2	4	1	6	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56901059C>T	ENST00000563236.1	+	2	385	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SLC12A3_ENST00000566786.1_Silent_p.G119G|SLC12A3_ENST00000262502.5_Silent_p.G119G|SLC12A3_ENST00000438926.2_Silent_p.G120G			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	120					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGTGGAGGGCGAGGCAGGCA	0.652																																						uc002ekd.4																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(358-360)ggC>ggT		Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						41	44	43					16																	56901059		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56901059C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.360C>T	16.37:g.56901059C>T						SLC12A3_uc010ccm.3_Silent_p.G120G|SLC12A3_uc010ccn.3_Silent_p.G119G	p.G120G	NM_000339	NP_000330	P55017	S12A3_HUMAN			1	389	+			120					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.360C>T	CCDS58464.1																																																																																				0.652	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			T	56901059	C	T	56901059	2	4	159	1	0	0	0	0	0	0	0	1	14384	755	27	1		1	SLC12A3	16	56901059	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	227869	56901059	33453694	94	11262											
CNOT1	23019	broad.mit.edu	37	chr16	58562381	58562385	+	Frame_Shift_Del	DEL	TTAGA	TTAGA	-																															aactagttggaaccttacctTtagattaggagtgaatgggt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:58562381_58562385delTTAGA	ENST00000317147.5	-	44	6779_6783	c.6447_6451delTCTAA	c.(6445-6453)aatctaaagfs	p.NL2149fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.NL2144fs|CNOT1_ENST00000245138.4_Frame_Shift_Del_p.NL1000fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2149					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCTTACCTTTAGATTAGGAGTGA	0.4																																						uc002env.3																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6445-6453)aatctaaagfs		Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58562381_58562385delTTAGA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6447_6451delTCTAA	16.37:g.58562381_58562385delTTAGA	ENSP00000320949:p.Asn2149fs					CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.3_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.2_Frame_Shift_Del_p.N1106fs	p.N2149fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	43	6740_6744	-			2149					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.6447_6451delTCTAA	CCDS10799.1																																																																																				0.4	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		-	58562385	TTAGA	-	58562381	7	5	159	1	0	1	0	1	0	0	0	0	3617	1850	64	0	703	0	CNOT1	16	58562381	Frame_Shift_Del	DEL	TTAGA	TCGA-19-2629-01A-01D-1495-08	1661322	58562381	31792372	95	11263											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							42	42	42					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578555	C	T	7578555	5	4	159	1	0	0	0	0	0	0	1	0	16378	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-19-2629-01A-01D-1495-08		7578555	73616655	96	11264											
MYH4	4622	broad.mit.edu	37	chr17	10350506	10350506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcatcttggcctctgaTggcatcatccaaatgtagct	10	12	9	10	0	4	1	2	1	2	0	5	1	5	1	2	3	1	3	2	3	3	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10350506T>A	ENST00000255381.2	-	35	5103	c.4993A>T	c.(4993-4995)Atc>Ttc	p.I1665F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1665					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCTCTGATGGCATCATCC	0.468																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4993-4995)Atc>Ttc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							112	93	100					17																	10350506		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350506T>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4993A>T	17.37:g.10350506T>A	ENSP00000255381:p.Ile1665Phe					AK097500_uc002gml.1_Intron	p.I1665F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			34	5104	-			1665						Missense_Mutation	SNP	ENST00000255381.2	37	c.4993A>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504249	0.44558	.	.	ENSG00000141048	ENST00000255381	T	0.77620	-1.11	5.09	-1.84	0.07809	Myosin tail (1);	0.474818	0.15237	U	0.273077	T	0.63792	0.2541	L	0.34521	1.04	0.31756	N	0.634023	B	0.18166	0.026	B	0.24155	0.051	T	0.56908	-0.7901	10	0.38643	T	0.18	.	9.1105	0.36725	0.0:0.225:0.5494:0.2256	.	1665	Q9Y623	MYH4_HUMAN	F	1665	ENSP00000255381:I1665F	ENSP00000255381:I1665F	I	-	1	0	MYH4	10291231	0.032000	0.19561	0.995000	0.50966	0.983000	0.72400	-0.210000	0.09345	-0.197000	0.10350	-0.460000	0.05396	ATC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10350506	T	A	10350506	3	1	159	1	0	0	0	0	1	0	0	0	10037	1464	51	5	850	5	MYH4	17	10350506	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	2771951	10350506	70844704	97	11265											
MYH1	4619	broad.mit.edu	37	chr17	10395868	10395868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggaatttggagaggttGacgttggattgttcctcctg	6	14	14	7	2	0	2	0	1	0	1	2	5	2	4	2	4	1	3	2	4	1	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10395868G>T	ENST00000226207.5	-	40	5779	c.5685C>A	c.(5683-5685)gtC>gtA	p.V1895V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1895					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAGGTTGACGTTGGATT	0.473																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5683-5685)gtC>gtA		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							102	93	96					17																	10395868		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10395868G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5685C>A	17.37:g.10395868G>T						AK097500_uc002gml.1_Intron	p.V1895V	NM_005963	NP_005954	P12882	MYH1_HUMAN			39	5779	-			1895					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5685C>A	CCDS11155.1																																																																																				0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10395868	G	T	10395868	2	4	159	1	0	0	0	0	0	0	0	1	10029	1277	45	5		5	MYH1	17	10395868	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	45362	10395868	70799342	98	11266											
DNAH9	1770	broad.mit.edu	37	chr17	11757746	11757749	+	Splice_Site	DEL	GTGA	GTGA	-																															ccatcaaagccaagatcgctGtgagtgaccccagagcccct																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:11757746_11757749delGTGA	ENST00000262442.4	+	50	10001		c.e50+1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGATCGCTGTGAGTGACCCCAG	0.544																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.e50+1		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.																																				SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757746_11757749delGTGA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9933+1GTGA>-	17.37:g.11757750_11757753delGTGA						DNAH9_uc010coo.3_Splice_Site_p.A2605_splice	p.A3311_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	10001	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3311			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	DEL	ENST00000262442.4	37	c.9933_splice	CCDS11160.1																																																																																				0.544	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron	-	11757749	GTGA	-	11757746	8	5	159	1	0	1	0	1	0	0	1	0	4608	1391	48	0	10132	0	DNAH9	17	11757746	Splice_Site	DEL	GTGA	TCGA-19-2629-01A-01D-1495-08	1361878	11757746	69437464	99	11267											
FAM83G	644815	broad.mit.edu	37	chr17	18906958	18906958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgtcgggccagcccaGgtccagctgcgggatggagc	6	6	18	11	2	0	0	0	0	0	0	2	3	1	2	3	5	4	1	3	5	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:18906958G>A	ENST00000388995.6	-	2	620	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.L133L|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.L133L|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	133					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCCAGCCCAGGTCCAGCTGC	0.701																																						uc002guw.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(397-399)Ctg>Ttg		Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.							22	26	24					17																	18906958		2070	4187	6257	SO:0001819	synonymous_variant	644815							g.chr17:18906958G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.397C>T	17.37:g.18906958G>A						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.L133L	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			1	564	-			133					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.397C>T	CCDS42276.1																																																																																				0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			A	18906958	G	A	18906958	2	1	159	1	0	0	0	0	0	0	0	1	5639	991	35	3		3	FAM83G	17	18906958	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	7149212	18906958	62288252	100	11268											
ACACA	31	broad.mit.edu	37	chr17	35564699	35564701	+	In_Frame_Del	DEL	GGA	GGA	-																															atgccatagtggttgaggttGgaggagaaggacattctaaa																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:35564699_35564701delGGA	ENST00000394406.2	-	31	3800_3802	c.3610_3612delTCC	c.(3610-3612)tccdel	p.S1204del	ACACA_ENST00000335166.5_In_Frame_Del_p.S1126del|ACACA_ENST00000353139.5_In_Frame_Del_p.S1241del|ACACA_ENST00000360679.3_In_Frame_Del_p.S1146del	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1204					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTGAGGTTGGAGGAGAAGGAC	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3610-3612)tccdel		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)																																			SO:0001651	inframe_deletion	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35564699_35564701delGGA	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3610_3612delTCC	17.37:g.35564702_35564704delGGA	ENSP00000377928:p.Ser1204del					ACACA_uc002hnk.3_In_Frame_Del_p.S1126del|ACACA_uc002hnl.3_In_Frame_Del_p.S1146del|ACACA_uc002hnn.3_In_Frame_Del_p.S1204del|ACACA_uc002hno.3_In_Frame_Del_p.S1241del|ACACA_uc010cuy.3_5'Flank	p.S1204del	NM_198836	NP_942135	Q13085	ACACA_HUMAN			30	3801_3803	-		Breast(25;0.00157)|Ovarian(249;0.15)	1204					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	In_Frame_Del	DEL	ENST00000394406.2	37	c.3610_3612delTCC	CCDS11317.1																																																																																				0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		-	35564701	GGA	-	35564699	7	5	159	1	0	1	0	1	0	0	0	0	106	1335	47	0	3532	0	ACACA	17	35564699	In_Frame_Del	DEL	GGA	TCGA-19-2629-01A-01D-1495-08	16657741	35564699	45630511	101	11269											
SGSH	6448	broad.mit.edu	37	chr17	78185892	78185892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggctcacgtaggcctcGctgacttggccccagcgttt	6	9	13	13	3	1	1	1	1	0	0	2	2	1	2	3	4	1	4	3	4	1	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:78185892G>A	ENST00000326317.6	-	7	1013	c.927C>T	c.(925-927)agC>agT	p.S309S	SGSH_ENST00000534910.1_Silent_p.S106S|SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000570923.1_3'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	309					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGGCCTCGCTGACTTGGC	0.617																																						uc002jxz.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(925-927)agC>agT		Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.							73	60	65					17																	78185892		2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78185892G>A	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.927C>T	17.37:g.78185892G>A						SGSH_uc002jya.4_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	p.S309S	NM_000199	NP_000190	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		6	1014	-	all_neural(118;0.0952)		309					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.927C>T	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		A	78185892	G	A	78185892	2	1	159	1	0	0	0	0	0	0	0	1	14221	1078	38	1		1	SGSH	17	78185892	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	42621193	78185892	3009318	102	11270											
SETBP1	26040	broad.mit.edu	37	chr18	42533090	42533090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggactcatgcacgaaaaGatactctggcagtggcgggg	10	8	15	8	2	2	1	1	0	1	1	2	3	2	2	0	5	2	2	0	5	3	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:42533090G>C	ENST00000282030.5	+	4	4081	c.3785G>C	c.(3784-3786)aGa>aCa	p.R1262T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1262						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1208K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCACGAAAAGATACTCTGGC	0.537									Schinzel-Giedion syndrome																													uc010dni.3																			1	Substitution - Missense(1)	p.R1208K(1)|p.A1262A(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(3784-3786)aGa>aCa		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							95	87	89					18																	42533090		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42533090G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3785G>C	18.37:g.42533090G>C	ENSP00000282030:p.Arg1262Thr						p.R1262T	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	3	4081	+			1262					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3785G>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687687	0.48097	.	.	ENSG00000152217	ENST00000282030	T	0.69926	-0.44	6.17	5.13	0.70059	.	0.161389	0.56097	D	0.000039	T	0.50274	0.1606	N	0.24115	0.695	0.27288	N	0.957907	P	0.35272	0.493	B	0.30495	0.116	T	0.53344	-0.8452	10	0.49607	T	0.09	.	12.7716	0.57423	0.137:0.0:0.863:0.0	.	1262	Q9Y6X0	SETBP_HUMAN	T	1262	ENSP00000282030:R1262T	ENSP00000282030:R1262T	R	+	2	0	SETBP1	40787088	1.000000	0.71417	0.936000	0.37596	0.960000	0.62799	3.741000	0.55090	2.941000	0.99782	0.655000	0.94253	AGA		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		C	42533090	G	C	42533090	3	2	159	1	0	0	0	0	1	0	0	0	14129	942	33	5	3988	5	SETBP1	18	42533090	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		42533090	35544158	103	11271											
MYO5B	4645	broad.mit.edu	37	chr18	47479673	47479674	+	Frame_Shift_Del	DEL	TC	TC	-																															tctgctcttcatacaccgtgTctctgtttttctccagaaaa																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:47479673_47479674delTC	ENST00000285039.7	-	14	2007_2008	c.1708_1709delGA	c.(1708-1710)gacfs	p.D570fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	570	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATACACCGTGTCTCTGTTTTTC	0.52																																						uc002leb.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1708-1710)gacfs		Homo sapiens myosin VB (MYO5B), mRNA.																																				SO:0001589	frameshift_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47479673_47479674delTC	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1708_1709delGA	18.37:g.47479675_47479676delTC	ENSP00000285039:p.Asp570fs					MYO5B_uc021ukb.1_Frame_Shift_Del_p.D569fs	p.D570fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	13	1996_1997	-			570			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	ENST00000285039.7	37	c.1708_1709delGA	CCDS42436.1																																																																																				0.52	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			-	47479674	TC	-	47479673	7	5	159	1	0	1	0	1	0	0	0	0	10079	1667	58	0	3945	0	MYO5B	18	47479673	Frame_Shift_Del	DEL	TC	TCGA-19-2629-01A-01D-1495-08	4946583	47479673	30597575	104	11272											
ZNF407	55628	broad.mit.edu	37	chr18	72343319	72343319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgaaacagggaaggagaCctttctgagtgactgcacag	14	7	13	7	0	1	5	0	3	1	2	1	7	1	6	1	2	2	1	1	2	2	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:72343319C>A	ENST00000299687.5	+	1	344	c.344C>A	c.(343-345)aCc>aAc	p.T115N	ZNF407_ENST00000309902.6_Missense_Mutation_p.T115N|ZNF407_ENST00000582337.1_Missense_Mutation_p.T115N|ZNF407_ENST00000577538.1_Missense_Mutation_p.T115N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAAGGAGACCTTTCTGAGT	0.443																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(343-345)aCc>aAc		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							112	110	110					18																	72343319		1914	4137	6051	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343319C>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.344C>A	18.37:g.72343319C>A	ENSP00000299687:p.Thr115Asn					ZNF407_uc010xfc.2_Missense_Mutation_p.T115N|ZNF407_uc010dqu.2_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	p.T115N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	0	397	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	115					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.344C>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404969	0.25378	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09911	2.93;3.41	5.53	3.71	0.42584	.	.	.	.	.	T	0.06280	0.0162	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23806	0.091;0.091;0.055	B;B;B	0.21360	0.023;0.034;0.015	T	0.21621	-1.0240	9	0.39692	T	0.17	.	3.1113	0.06359	0.1526:0.564:0.1307:0.1528	.	115;115;115	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	115	ENSP00000299687:T115N;ENSP00000310359:T115N	ENSP00000299687:T115N	T	+	2	0	ZNF407	70472307	0.001000	0.12720	0.044000	0.18714	0.039000	0.13416	0.646000	0.24797	2.770000	0.95276	0.655000	0.94253	ACC		0.443	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72343319	C	A	72343319	3	1	159	1	0	0	0	0	1	0	0	0	17884	507	18	5	346	5	ZNF407	18	72343319	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	24863646	72343319	5733929	105	11273											
ELANE	1991	broad.mit.edu	37	chr19	855979	855979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggactccggcagccccttgGtctgcaacgggctaatccac	7	7	12	15	2	1	0	0	0	1	0	3	1	3	1	4	4	3	3	4	4	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:855979G>A	ENST00000590230.1	+	6	760	c.619G>A	c.(619-621)Gtc>Atc	p.V207I	ELANE_ENST00000263621.1_Missense_Mutation_p.V207I			P08246	ELNE_HUMAN	elastase, neutrophil expressed	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGCCCCTTGGTCTGCAACGG	0.657																																						uc002lqb.3																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(619-621)Gtc>Atc		Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						42	48	46					19																	855979		2203	4299	6502	SO:0001583	missense	1991				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:855979G>A		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.619G>A	19.37:g.855979G>A	ENSP00000466090:p.Val207Ile						p.V207I	NM_001972	NP_001963	P08246	ELNE_HUMAN			4	657	+			207			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	c.619G>A	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686221	0.14973	.	.	ENSG00000197561	ENST00000263621	D	0.89270	-2.49	4.46	2.31	0.28768	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.224860	0.22162	N	0.063771	D	0.85656	0.5747	L	0.53561	1.675	0.35939	D	0.833078	P	0.37398	0.593	B	0.42738	0.396	T	0.82110	-0.0619	10	0.30854	T	0.27	.	6.8505	0.24012	0.22:0.0:0.78:0.0	.	207	P08246	ELNE_HUMAN	I	207	ENSP00000263621:V207I	ENSP00000263621:V207I	V	+	1	0	ELANE	806979	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	1.598000	0.36740	0.446000	0.26666	0.462000	0.41574	GTC		0.657	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		A	855979	G	A	855979	3	1	159	1	0	0	0	0	1	0	0	0	5048	1261	44	3	637	3	ELANE	19	855979	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		855979	58273004	106	11274											
TMIGD2	126259	broad.mit.edu	37	chr19	4298041	4298042	+	Frame_Shift_Del	DEL	TA	TA	-																															tcctccaactcaggaatctcTacggccgcccagcacacgta																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:4298041_4298042delTA	ENST00000301272.2	-	2	392_393	c.347_348delTA	c.(346-348)gtafs	p.V116fs	TMIGD2_ENST00000595645.1_Frame_Shift_Del_p.V116fs|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	116	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATCTCTACGGCCGCCCA	0.653																																						uc002lzx.2																			0		p.A115A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(346-348)gtafs		Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	126259					integral to membrane		g.chr19:4298041_4298042delTA	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.347_348delTA	19.37:g.4298041_4298042delTA	ENSP00000301272:p.Val116fs					TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.V116fs	p.V116fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	1	393_394	-			116			Ig-like.		Q6UW59	Frame_Shift_Del	DEL	ENST00000301272.2	37	c.347_348delTA	CCDS12126.1																																																																																				0.653	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		-	4298042	TA	-	4298041	7	5	159	1	0	1	0	1	0	0	0	0	16228	1509	53	0	516	0	TMIGD2	19	4298041	Frame_Shift_Del	DEL	TA	TCGA-19-2629-01A-01D-1495-08	3442062	4298041	54830942	107	11275											
TRIP10	9322	broad.mit.edu	37	chr19	6751206	6751206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgcccacctcctacctccGagtcacgctcaattgaaccc	8	8	6	19	3	2	1	2	1	0	0	4	2	4	1	6	0	3	1	6	0	3	2	rs139028261	byFrequency	TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:6751206G>A	ENST00000313244.9	+	15	1825	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.R541Q|TRIP10_ENST00000600428.1_Missense_Mutation_p.R433Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E551K			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	597	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCCTACCTCCGAGTCACGCTC	0.612													G|||	4	0.000798722	0.003	0	5008	,	,		12144	0		0	False		,,,				2504	0					uc002mfs.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(1789-1791)cGa>cAa		Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	61	67	65		1622	4.8	1	19	dbSNP_134	65	0,8600		0,0,4300	yes	missense	TRIP10	NM_004240.2	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	541/546	6751206	3,13003	2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6751206G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1790G>A	19.37:g.6751206G>A	ENSP00000320117:p.Arg597Gln					TRIP10_uc010dux.2_Missense_Mutation_p.E551K|TRIP10_uc002mfr.3_Missense_Mutation_p.R541Q|TRIP10_uc010duy.3_Non-coding_Transcript	p.R597Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN			14	1856	+			597			Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1790G>A		2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.40|11.40	1.626713|1.626713	0.28978|0.28978	6.81E-4|6.81E-4	0.0|0.0	ENSG00000125733|ENSG00000125733	ENST00000420690|ENST00000313285;ENST00000313244	.|T;T	.|0.16196	.|2.36;3.4	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Src homology-3 domain (3);	.|0.569877	.|0.16222	.|N	.|0.224005	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.00670|0.00670	-1.27|-1.27	0.32213|0.32213	N|N	0.576258|0.576258	B|D;D	0.12630|0.64830	0.006|0.994;0.979	B|D;P	0.06405|0.64042	0.002|0.921;0.511	T|T	0.18147|0.18147	-1.0346|-1.0346	8|10	0.87932|0.41790	D|T	0|0.15	-11.8101|-11.8101	9.2393|9.2393	0.37486|0.37486	0.0967:0.0:0.9033:0.0|0.0967:0.0:0.9033:0.0	.|.	551|597;541	G5E9U1|Q15642;Q15642-2	.|CIP4_HUMAN;.	K|Q	551|541;597	.|ENSP00000320493:R541Q;ENSP00000320117:R597Q	ENSP00000415493:E551K|ENSP00000320117:R597Q	E|R	+|+	1|2	0|0	TRIP10|TRIP10	6702206|6702206	0.171000|0.171000	0.23029|0.23029	0.963000|0.963000	0.40424|0.40424	0.150000|0.150000	0.21749|0.21749	2.065000|2.065000	0.41442|0.41442	2.678000|2.678000	0.91216|0.91216	0.305000|0.305000	0.20034|0.20034	GAG|CGA		0.612	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			A	6751206	G	A	6751206	3	1	159	1	0	0	0	0	1	0	0	0	16551	1058	37	2	1676	2	TRIP10	19	6751206	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2453165	6751206	52377777	108	11276											
C19orf43	79002	broad.mit.edu	37	chr19	12841881	12841881	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcacctttacttgttaatAcctgtggaaaggggatacgg	10	12	11	8	2	1	0	1	0	0	0	1	2	1	2	2	4	3	1	2	4	5	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:12841881A>G	ENST00000242784.4	-	3	542	c.425T>C	c.(424-426)gTa>gCa	p.V142A	C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Splice_Site_p.V116A	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	142										endometrium(2)|large_intestine(2)	4						ACTTGTTAATACCTGTGGAAA	0.547																																						uc002muu.3																			0				endometrium(2)|large_intestine(2)	4						c.e3-1		Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA.							118	106	110					19																	12841881		2203	4300	6503	SO:0001630	splice_region_variant	79002							g.chr19:12841881A>G	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 18"					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.424-1T>C	19.37:g.12841881A>G							p.V142_splice	NM_024038	NP_076943	Q9BQ61	CS043_HUMAN			3	482	-			142						Missense_Mutation	SNP	ENST00000242784.4	37	c.424_splice	CCDS12279.1	.	.	.	.	.	.	.	.	.	.	A	8.817	0.936676	0.18206	.	.	ENSG00000123144	ENST00000242784	.	.	.	4.47	4.47	0.54385	.	0.327528	0.27266	N	0.020147	T	0.42017	0.1184	L	0.32530	0.975	0.80722	D	1	B	0.24576	0.106	B	0.20184	0.028	T	0.24941	-1.0146	9	0.07813	T	0.8	-4.4004	12.7471	0.57287	1.0:0.0:0.0:0.0	.	142	Q9BQ61	CS043_HUMAN	A	142	.	ENSP00000242784:V142A	V	-	2	0	C19orf43	12702881	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.209000	0.58493	1.640000	0.50565	0.482000	0.46254	GTA		0.547	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038	Missense_Mutation	G	12841881	A	G	12841881	5	3	159	1	0	0	0	0	0	0	1	0	1926	405	14	4	109	4	C19orf43	19	12841881	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	6090675	12841881	46287102	109	11277											
CYP4F12	66002	broad.mit.edu	37	chr19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggcgggctttggctgCgggtggagcccctgaatgta	5	8	18	10	3	0	1	0	1	0	0	0	3	0	2	3	5	2	3	3	5	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:15807863C>T	ENST00000550308.1	+	13	1923	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R515W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	515					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTTTGGCTGCGGGTGGAGCC	0.567																																						uc002nbl.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1543-1545)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.							58	64	62					19																	15807863		2187	4299	6486	SO:0001583	missense	66002							g.chr19:15807863C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1543C>T	19.37:g.15807863C>T	ENSP00000448998:p.Arg515Trp						p.R515W	NM_023944	NP_076433					12	1662	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1543C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	7.143	0.582198	0.13749	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.80653	-1.4;-1.4	2.31	1.27	0.21489	.	0.293900	0.27554	U	0.018856	T	0.80363	0.4609	M	0.88640	2.97	0.30998	N	0.720611	B	0.25772	0.134	B	0.27715	0.082	T	0.77811	-0.2449	10	0.59425	D	0.04	.	6.9546	0.24563	0.0:0.8482:0.0:0.1518	.	515	Q9HCS2	CP4FC_HUMAN	W	515	ENSP00000448998:R515W;ENSP00000321821:R515W	ENSP00000321821:R515W	R	+	1	2	CYP4F12	15668863	0.978000	0.34361	0.452000	0.26994	0.009000	0.06853	2.488000	0.45276	0.529000	0.28599	0.313000	0.20887	CGG		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15807863	C	T	15807863	3	4	159	1	0	0	0	0	1	0	0	0	4187	759	27	1	1589	1	CYP4F12	19	15807863	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	2965982	15807863	43321120	110	11278											
USP29	57663	broad.mit.edu	37	chr19	57641232	57641232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaaatgccactttgaatActgggaaagaatgtggggat	15	11	11	4	0	0	2	0	1	0	1	0	4	0	4	1	3	2	0	1	3	7	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:57641232A>G	ENST00000254181.4	+	4	1643	c.1189A>G	c.(1189-1191)Act>Gct	p.T397A	USP29_ENST00000598197.1_Missense_Mutation_p.T397A	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	397	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTTGAATACTGGGAAAGA	0.383																																						uc002qny.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1189-1191)Act>Gct		Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.							81	75	77					19																	57641232		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641232A>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1189A>G	19.37:g.57641232A>G	ENSP00000254181:p.Thr397Ala					USP29_uc021vci.1_Missense_Mutation_p.T397A	p.T397A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1545	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	397						Missense_Mutation	SNP	ENST00000254181.4	37	c.1189A>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	2.399	-0.338004	0.05278	.	.	ENSG00000131864	ENST00000254181	T	0.50001	0.76	2.69	-0.682	0.11339	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.907134	0.08951	N	0.870138	T	0.41073	0.1143	L	0.50333	1.59	0.09310	N	1	P	0.34997	0.479	B	0.38921	0.285	T	0.34601	-0.9822	10	0.34782	T	0.22	-2.067	6.6554	0.22984	0.6254:0.0:0.3746:0.0	.	397	Q9HBJ7	UBP29_HUMAN	A	397	ENSP00000254181:T397A	ENSP00000254181:T397A	T	+	1	0	USP29	62333044	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	1.354000	0.34056	-0.271000	0.09272	0.482000	0.46254	ACT		0.383	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			G	57641232	A	G	57641232	3	3	159	1	0	0	0	0	1	0	0	0	17056	391	14	4	1191	4	USP29	19	57641232	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	41833369	57641232	1487751	111	11279											
MYH7B	57644	broad.mit.edu	37	chr20	33572918	33572918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaagctggcatccgCggatattgacagctgtgagt	8	10	14	9	2	1	2	0	2	1	0	2	4	2	4	1	3	2	3	1	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:33572918C>T	ENST00000262873.7	+	11	1009	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	264	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGCATCCGCGGATATTGAC	0.642																																						uc002xbi.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(916-918)gCg>gTg		Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.							62	67	65					20																	33572918		2076	4195	6271	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33572918C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.917C>T	20.37:g.33572918C>T	ENSP00000262873:p.Ala306Val						p.A306V	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		12	1234	+			264			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.917C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535911	0.85812	.	.	ENSG00000078814	ENST00000262873	T	0.79247	-1.25	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.209200	0.24067	N	0.041856	D	0.91324	0.7264	H	0.96239	3.79	0.80722	D	1	D	0.67145	0.996	P	0.61592	0.891	D	0.93493	0.6837	10	0.56958	D	0.05	.	18.9917	0.92794	0.0:1.0:0.0:0.0	.	264	A7E2Y1	MYH7B_HUMAN	V	306	ENSP00000262873:A306V	ENSP00000262873:A306V	A	+	2	0	MYH7B	33036579	1.000000	0.71417	0.170000	0.22879	0.966000	0.64601	6.056000	0.71111	2.555000	0.86185	0.655000	0.94253	GCG		0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		T	33572918	C	T	33572918	3	4	159	1	0	0	0	0	1	0	0	0	10040	768	27	1	959	1	MYH7B	20	33572918	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		33572918	29452602	112	11280											
PTPRT	11122	broad.mit.edu	37	chr20	40911144	40911144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataccttttgtagccagacGaacacagttgattttggtct	10	14	8	9	1	1	2	0	1	1	1	1	3	1	2	2	1	3	2	2	1	3	7			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:40911144G>A	ENST00000373187.1	-	13	2160	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	PTPRT_ENST00000373198.4_Missense_Mutation_p.R721C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R721C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R721C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R721C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R721C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R721C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	721	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGCCAGACGAACACAGTTG	0.348																																						uc002xkg.3																			0		p.R721H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2161-2163)Cgt>Tgt		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							122	111	115					20																	40911144		1880	4113	5993	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40911144G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2161C>T	20.37:g.40911144G>A	ENSP00000362283:p.Arg721Cys					PTPRT_uc010ggj.3_Missense_Mutation_p.R721C	p.R721C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			12	2345	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	721			Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2161C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645826	0.67358	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.39592	1.21;1.2;1.2;1.1;1.07;1.23;1.22	5.34	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.68239	-0.5461	10	0.87932	D	0	.	11.4502	0.50147	0.0:0.0:0.8216:0.1784	.	721;721	O14522-1;O14522	.;PTPRT_HUMAN	C	721	ENSP00000362286:R721C;ENSP00000362283:R721C;ENSP00000362289:R721C;ENSP00000348408:R721C;ENSP00000362294:R721C;ENSP00000362280:R721C;ENSP00000362297:R721C	ENSP00000348408:R721C	R	-	1	0	PTPRT	40344558	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.367000	0.52350	2.779000	0.95612	0.655000	0.94253	CGT		0.348	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	40911144	G	A	40911144	3	1	159	1	0	0	0	0	1	0	0	0	12812	1058	37	2	2301	2	PTPRT	20	40911144	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	7338226	40911144	22114376	113	11281											
KCNE1	3753	broad.mit.edu	37	chr21	35821746	35821746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggagcggatgtagctcaGcatgatgcccagggtgaaga	10	8	15	8	1	1	3	1	2	0	1	1	5	1	5	1	3	4	3	1	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:35821746G>T	ENST00000337385.3	-	3	562	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	KCNE1_ENST00000399289.3_Missense_Mutation_p.L63M|KCNE1_ENST00000416357.2_Missense_Mutation_p.L63M|KCNE1_ENST00000432085.1_Missense_Mutation_p.L63M|KCNE1_ENST00000399286.2_Missense_Mutation_p.L63M|KCNE1_ENST00000399284.1_Missense_Mutation_p.L63M	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	63					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGTAGCTCAGCATGATGCCC	0.592																																						uc021wit.1																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(187-189)Ctg>Atg		Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	Indapamide(DB00808)						94	74	81					21																	35821746		2203	4300	6503	SO:0001583	missense	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821746G>T	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.187C>A	21.37:g.35821746G>T	ENSP00000337255:p.Leu63Met					KCNE1_uc010gmp.3_Missense_Mutation_p.L63M|KCNE1_uc002ytz.3_Missense_Mutation_p.L63M|KCNE1_uc010gmq.3_Missense_Mutation_p.L63M|KCNE1_uc010gmr.3_Missense_Mutation_p.L63M|KCNE1_uc010gms.3_Missense_Mutation_p.L63M|KCNE1_uc002yua.3_Non-coding_Transcript	p.L63M	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN			0	187	-			63					A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	c.187C>A	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090927	0.55968	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.16	4.27	0.50696	.	0.259335	0.29321	N	0.012492	D	0.95389	0.8503	M	0.85859	2.78	0.34164	D	0.668948	B	0.31209	0.313	P	0.44860	0.462	D	0.97117	0.9808	10	0.59425	D	0.04	-18.5755	7.133	0.25512	0.1544:0.1426:0.703:0.0	.	63	P15382	KCNE1_HUMAN	M	63	ENSP00000382228:L63M;ENSP00000337255:L63M;ENSP00000412498:L63M;ENSP00000382226:L63M;ENSP00000416258:L63M;ENSP00000382225:L63M	ENSP00000337255:L63M	L	-	1	2	KCNE1	34743616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.436000	0.34980	2.398000	0.81561	0.591000	0.81541	CTG		0.592	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			T	35821746	G	T	35821746	3	4	159	1	0	0	0	0	1	0	0	0	8021	962	34	5	206	5	KCNE1	21	35821746	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		35821746	12308149	114	11282											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971183	45971183	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcagcaggggctggaCacacagctcactggggtgca	8	5	16	12	0	1	0	1	0	0	0	1	1	1	1	1	6	3	5	1	6	0	0	rs587703858		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:45971183C>G	ENST00000391621.1	-	1	205	c.159G>C	c.(157-159)gtG>gtC	p.V53V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	53	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						AGGGGCTGGACACACAGCTCA	0.697													C|||	1	0.000199681	0	0	5008	,	,		18881	0		0	False		,,,				2504	0.001					uc002zfi.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(157-159)gtG>gtC		Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.							28	34	32					21																	45971183		2199	4295	6494	SO:0001819	synonymous_variant	386679					keratin filament		g.chr21:45971183C>G	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.159G>C	21.37:g.45971183C>G						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V53V	NM_198693	NP_941966	P60368	KR102_HUMAN			0	206	-			53			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Silent	SNP	ENST00000391621.1	37	c.159G>C	CCDS42955.1																																																																																				0.697	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			G	45971183	C	G	45971183	2	3	159	1	0	0	0	0	0	0	0	1	8509	465	17	5		5	KRTAP10-2	21	45971183	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10149437	45971183	2158712	115	11283											
OSBP2	23762	broad.mit.edu	37	chr22	31137202	31137202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcaacctgtccaccgcGcacattgacacggaggactc	11	6	8	16	3	1	1	1	1	0	0	3	3	2	3	4	2	1	1	4	2	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:31137202G>A	ENST00000332585.6	+	2	803	c.699G>A	c.(697-699)gcG>gcA	p.A233A	OSBP2_ENST00000403222.3_Silent_p.A68A|OSBP2_ENST00000382310.3_Silent_p.A233A|OSBP2_ENST00000446658.2_Silent_p.A233A|OSBP2_ENST00000407373.1_Silent_p.A60A	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	233	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTCCACCGCGCACATTGACA	0.557																																						uc003aiy.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(697-699)gcG>gcA		Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.							52	54	54					22																	31137202		2032	4162	6194	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31137202G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.699G>A	22.37:g.31137202G>A						OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	p.A233A	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	803	+			233			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.699G>A	CCDS43002.1																																																																																				0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		A	31137202	G	A	31137202	2	1	159	1	0	0	0	0	0	0	0	1	11274	1074	38	1		1	OSBP2	22	31137202	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08		31137202	20167364	116	11284											
TMPRSS6	164656	broad.mit.edu	37	chr22	37492125	37492125	+	Frame_Shift_Del	DEL	C	C	-																															agaagaagcaggtgaggggtCcctccctaaggcaggcagaa																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37492125delC	ENST00000346753.3	-	5	553	c.437delG	c.(436-438)ggafs	p.G146fs	TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.G137fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.G137fs|TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.G137fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.G146fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	146	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTGAGGGGTCCCTCCCTAAG	0.622																																						uc003aqt.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(409-411)ggafs		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							37	40	39					22																	37492125		2203	4300	6503	SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37492125delC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.437delG	22.37:g.37492125delC	ENSP00000334962:p.Gly146fs					TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.G146fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.G137fs	p.G137fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			4	472	-			146					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	c.410delG	CCDS13941.1																																																																																				0.622	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		-	37492125	C	-	37492125	7	5	159	1	0	1	0	1	0	0	0	0	16248	855	30	0	2054	0	TMPRSS6	22	37492125	Frame_Shift_Del	DEL	C	TCGA-19-2629-01A-01D-1495-08	6354923	37492125	13812441	117	11285											
CYTH4	27128	broad.mit.edu	37	chr22	37707507	37707507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtaggacaaggagcCacggggaattatacctcttg	10	10	11	10	1	1	0	0	0	1	0	2	3	2	3	3	4	2	1	3	4	5	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37707507C>T	ENST00000248901.6	+	11	1083	c.896C>T	c.(895-897)cCa>cTa	p.P299L		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	299	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACAAGGAGCCACGGGGAATT	0.582																																						uc003arf.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(895-897)cCa>cTa		Homo sapiens cytohesin 4 (CYTH4), mRNA.							64	63	63					22																	37707507		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707507C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.896C>T	22.37:g.37707507C>T	ENSP00000248901:p.Pro299Leu					CYTH4_uc011amw.2_Missense_Mutation_p.P242L	p.P299L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			10	1012	+			299			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.896C>T	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553258	0.86127	.	.	ENSG00000100055	ENST00000248901	T	0.21932	1.98	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	T	0.58109	-0.7694	10	0.56958	D	0.05	.	16.1429	0.81539	0.0:1.0:0.0:0.0	.	299	Q9UIA0	CYH4_HUMAN	L	299	ENSP00000248901:P299L	ENSP00000248901:P299L	P	+	2	0	CYTH4	36037453	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.696000	0.84270	2.170000	0.68504	0.563000	0.77884	CCA		0.582	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			T	37707507	C	T	37707507	3	4	159	1	0	0	0	0	1	0	0	0	4206	594	21	3	938	3	CYTH4	22	37707507	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	215382	37707507	13597059	118	11286											
DDX17	10521	broad.mit.edu	37	chr22	38890068	38890069	+	Frame_Shift_Del	DEL	TT	TT	-																															tcagatcatcacagcgtctcTttgtctccacaaatattatt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:38890068_38890069delTT	ENST00000396821.3	-	9	1381_1382	c.1282_1283delAA	c.(1282-1284)aagfs	p.K428fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Del_p.K349fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	428	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACAGCGTCTCTTTGTCTCCACA	0.386																																					Ovarian(55;1085 1454 6392 21425)	uc003avy.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1282-1284)aagfs		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38890068_38890069delTT	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1282_1283delAA	22.37:g.38890068_38890069delTT	ENSP00000380033:p.Lys428fs					DDX17_uc003avx.4_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.2_Frame_Shift_Del_p.K341fs	p.K428fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			8	1385_1386	-	Melanoma(58;0.0286)		349			Helicase C-terminal.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Del	DEL	ENST00000396821.3	37	c.1282_1283delAA	CCDS46706.1																																																																																				0.386	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		-	38890069	TT	-	38890068	7	5	159	1	0	1	0	1	0	0	0	0	4344	1609	56	0	932	0	DDX17	22	38890068	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08	1182561	38890068	12414498	119	11287											
MCHR1	2847	broad.mit.edu	37	chr22	41077826	41077826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctctgtgagacgttccGcaaacgcttggtcctgtcgg	5	11	13	12	5	1	1	0	1	1	1	4	2	3	1	2	2	2	4	2	2	1	2	rs199697488		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:41077826G>A	ENST00000249016.4	+	2	1859	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R262H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	388					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGACGTTCCGCAAACGCTTG	0.572																																						uc003ayz.3																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(1162-1164)cGc>cAc		Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.							111	90	97					22																	41077826		2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077826G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1163G>A	22.37:g.41077826G>A	ENSP00000249016:p.Arg388His					MCHR1_uc003aza.3_Missense_Mutation_p.R277H|HV452684_uc003azb.1_Non-coding_Transcript	p.R388H	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			1	1431	+			388					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.1163G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209252	0.79240	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.58358	0.34;0.34	5.4	5.4	0.78164	.	0.101947	0.64402	D	0.000008	T	0.57286	0.2043	N	0.19112	0.55	0.41286	D	0.986946	D	0.76494	0.999	P	0.62184	0.899	T	0.62955	-0.6744	10	0.87932	D	0	.	17.0403	0.86487	0.0:0.0:1.0:0.0	.	388	Q99705	MCHR1_HUMAN	H	388;262	ENSP00000249016:R388H;ENSP00000370841:R262H	ENSP00000249016:R388H	R	+	2	0	MCHR1	39407772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.226000	0.58606	2.698000	0.92095	0.655000	0.94253	CGC		0.572	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		A	41077826	G	A	41077826	3	1	159	1	0	0	0	0	1	0	0	0	9382	1087	38	1	1169	1	MCHR1	22	41077826	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2187758	41077826	10226740	120	11288											
ATRX	546	broad.mit.edu	37	chrX	76939674	76939675	+	Frame_Shift_Del	DEL	TT	TT	-																															ttggctgtggtctcaatcagTttttttgccttcttaatcat																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chrX:76939674_76939675delTT	ENST00000373344.5	-	9	1287_1288	c.1073_1074delAA	c.(1072-1074)aaafs	p.K358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTCAATCAGTTTTTTTGCCTT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1072-1074)aaafs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939674_76939675delTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1073_1074delAA	X.37:g.76939678_76939679delTT	ENSP00000362441:p.Lys358fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	p.K358fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	1305_1306	-			358					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1073_1074delAA	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76939675	TT	-	76939674	7	5	159	1	0	1	0	1	0	0	0	0	1208	1722	60	0	6512	0	ATRX	23	76939674	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08		76939674	78330886	121	11289											
SEPN1	57190	broad.mit.edu	37	chr1	26140414	26140414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgtcctggaaagttcgcCcatcctcaccctgctcaacg	8	9	8	16	2	2	0	2	0	0	0	5	2	4	1	4	1	2	2	4	1	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:26140414C>A	ENST00000374315.1	+	10	1366	c.1328C>A	c.(1327-1329)cCc>cAc	p.P443H	SEPN1_ENST00000361547.2_Missense_Mutation_p.P477H|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.6_ENST00000527604.1_5'Flank|RP1-317E23.3_ENST00000442055.1_RNA|SEPN1_ENST00000354177.4_Missense_Mutation_p.P443H	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	477						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTCGCCCATCCTCACC	0.612																																						uc021ojk.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1429-1431)cCc>cAc		Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.							89	94	92					1																	26140414		2037	4184	6221	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26140414C>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1328C>A	1.37:g.26140414C>A	ENSP00000363434:p.Pro443His					SEPN1_uc021ojl.1_Missense_Mutation_p.P443H	p.P477H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	10	1485	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	477					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1430C>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968830	0.92855	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.90261	-2.64;-2.64;-2.64	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94565	0.8249	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94769	0.7943	10	0.72032	D	0.01	-29.6739	19.256	0.93945	0.0:1.0:0.0:0.0	.	443;477	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	477;443;443	ENSP00000355141:P477H;ENSP00000346109:P443H;ENSP00000363434:P443H	ENSP00000346109:P443H	P	+	2	0	SEPN1	26013001	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.437000	0.80417	2.561000	0.86390	0.462000	0.41574	CCC		0.612	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		A	26140414	C	A	26140414	3	1	160	1	0	0	0	0	1	0	0	0	14056	623	22	5	1472	5	SEPN1	1	26140414	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		26140414	223110207	1	11290											
NTNG1	22854	broad.mit.edu	37	chr1	107867040	107867040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttggaaggagtatcccaAgcctctccaggttaacatca	12	9	8	12	0	2	0	1	0	1	0	4	2	3	2	3	3	2	2	3	3	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:107867040A>G	ENST00000370068.1	+	3	1229	c.383A>G	c.(382-384)aAg>aGg	p.K128R	NTNG1_ENST00000370073.2_Missense_Mutation_p.K128R|NTNG1_ENST00000370070.2_Missense_Mutation_p.K128R|NTNG1_ENST00000370066.1_Missense_Mutation_p.K128R|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.K128R|NTNG1_ENST00000370072.3_Missense_Mutation_p.K128R|NTNG1_ENST00000370067.1_Missense_Mutation_p.K128R|NTNG1_ENST00000542803.1_Missense_Mutation_p.K128R|NTNG1_ENST00000370065.1_Missense_Mutation_p.K128R|NTNG1_ENST00000370074.4_Missense_Mutation_p.K128R|NTNG1_ENST00000370061.3_Missense_Mutation_p.K128R			Q9Y2I2	NTNG1_HUMAN	netrin G1	128	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTATCCCAAGCCTCTCCAG	0.478																																						uc001dvh.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(382-384)aAg>aGg		Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.							110	115	113					1																	107867040		2203	4300	6503	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867040A>G	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.383A>G	1.37:g.107867040A>G	ENSP00000359085:p.Lys128Arg					NTNG1_uc001dvc.4_Missense_Mutation_p.K128R|NTNG1_uc010out.2_Missense_Mutation_p.K128R|NTNG1_uc001dvf.4_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	p.K128R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	1101	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	128			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.383A>G	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917384	0.73098	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.83	5.83	0.93111	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000005	T	0.77391	0.4123	L	0.40543	1.245	0.58432	D	0.999996	D;D;P;D;P	0.76494	0.995;0.999;0.883;0.99;0.809	D;D;P;D;B	0.85130	0.993;0.997;0.545;0.966;0.353	T	0.79536	-0.1763	10	0.52906	T	0.07	.	16.2015	0.82084	1.0:0.0:0.0:0.0	.	128;128;128;128;128	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	R	128	ENSP00000359090:K128R;ENSP00000359088:K128R;ENSP00000440561:K128R;ENSP00000359078:K128R;ENSP00000359089:K128R;ENSP00000359087:K128R;ENSP00000359091:K128R;ENSP00000359085:K128R;ENSP00000359084:K128R;ENSP00000359083:K128R;ENSP00000359082:K128R	ENSP00000294649:K128R	K	+	2	0	NTNG1	107668563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.230000	0.72887	0.533000	0.62120	AAG		0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		G	107867040	A	G	107867040	3	3	160	1	0	0	0	0	1	0	0	0	10704	72	3	4	389	4	NTNG1	1	107867040	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	81726626	107867040	141383581	2	11291											
AKNAD1	254268	broad.mit.edu	37	chr1	109395162	109395162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatttgatttaagactTcaaggccatccttttttgag	13	16	6	6	0	1	3	1	2	0	1	2	3	2	3	2	1	0	0	2	1	4	8			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:109395162T>C	ENST00000370001.3	-	2	393	c.125A>G	c.(124-126)gAa>gGa	p.E42G	AKNAD1_ENST00000369995.3_Missense_Mutation_p.E42G|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E42G	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	42						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTTAAGACTTCAAGGCCATC	0.408																																						uc001dwa.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(124-126)gAa>gGa		Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.							96	93	94					1																	109395162		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109395162T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.125A>G	1.37:g.109395162T>C	ENSP00000359018:p.Glu42Gly					AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	p.E42G	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			1	394	-			42					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.125A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	8.524	0.869480	0.17322	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09073	3.04;3.06;3.02	5.45	1.8	0.24995	.	0.650998	0.14732	N	0.301700	T	0.01765	0.0056	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47509	-0.9112	10	0.25106	T	0.35	-0.3464	5.4652	0.16639	0.0:0.2733:0.1442:0.5825	.	42	Q5T1N1	AKND1_HUMAN	G	42	ENSP00000359018:E42G;ENSP00000359011:E42G;ENSP00000359012:E42G	ENSP00000359011:E42G	E	-	2	0	AKNAD1	109196685	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.007000	0.13174	0.113000	0.18004	0.533000	0.62120	GAA		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		C	109395162	T	C	109395162	3	2	160	1	0	0	0	0	1	0	0	0	464	1783	62	4	2445	4	AKNAD1	1	109395162	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	1528122	109395162	139855459	3	11292											
IGSF9	57549	broad.mit.edu	37	chr1	159897140	159897140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcagggatgttcacaGcagagtggcctgttcggggt	8	10	14	9	1	3	1	3	0	0	1	4	2	3	2	1	4	1	3	1	4	0	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159897140G>A	ENST00000368094.1	-	21	3732	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	IGSF9_ENST00000361509.3_Silent_p.L1163L|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1179					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCACAGCAGAGTGGCC	0.607																																						uc001fur.2																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3535-3537)Ctg>Ttg		Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.							55	59	57					1																	159897140		2189	4270	6459	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159897140G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3535C>T	1.37:g.159897140G>A						IGSF9_uc001fuq.2_Silent_p.L1163L|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	p.L1179L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	3733	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1179						Silent	SNP	ENST00000368094.1	37	c.3535C>T	CCDS44254.1																																																																																				0.607	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		A	159897140	G	A	159897140	2	1	160	1	0	0	0	0	0	0	0	1	7605	962	34	3		3	IGSF9	1	159897140	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	50501978	159897140	89353481	4	11293											
FMO3	2328	broad.mit.edu	37	chr1	171077238	171077238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggactaaaccactttaaagGcaaatgcttccacagcaggg	15	7	9	10	0	0	0	0	0	0	0	1	1	1	1	2	3	3	3	2	3	5	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:171077238G>A	ENST00000367755.4	+	5	614	c.503G>A	c.(502-504)gGc>gAc	p.G168D	FMO3_ENST00000538429.1_Missense_Mutation_p.G105D|FMO3_ENST00000542847.1_Missense_Mutation_p.G148D|FMO3_ENST00000392085.2_Missense_Mutation_p.G168D	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	168					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CACTTTAAAGGCAAATGCTTC	0.423																																						uc001ghi.3																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(502-504)gGc>gAc		Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.							115	124	121					1																	171077238		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171077238G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.503G>A	1.37:g.171077238G>A	ENSP00000356729:p.Gly168Asp					FMO3_uc001ghh.3_Missense_Mutation_p.G168D|FMO3_uc010pmb.2_Missense_Mutation_p.G148D|FMO3_uc010pmc.2_Missense_Mutation_p.G105D	p.G168D	NM_001002294	NP_008825	P31513	FMO3_HUMAN			4	614	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		168					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.503G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601816	0.87055	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88558	0.3121	10	0.87932	D	0	-18.3074	18.0577	0.89368	0.0:0.0:1.0:0.0	.	105;148;168	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	D	168;168;148;105	ENSP00000356729:G168D;ENSP00000375935:G168D;ENSP00000444073:G148D;ENSP00000439500:G105D	ENSP00000356729:G168D	G	+	2	0	FMO3	169343862	1.000000	0.71417	0.996000	0.52242	0.798000	0.45092	9.864000	0.99589	2.322000	0.78497	0.563000	0.77884	GGC		0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		A	171077238	G	A	171077238	3	1	160	1	0	0	0	0	1	0	0	0	5956	1203	42	3	517	3	FMO3	1	171077238	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	11180098	171077238	78173383	5	11294											
OR14A16	284532	broad.mit.edu	37	chr1	247978223	247978223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtgtagaacacagaaattAcagcatccaaaatagaagga	20	7	8	6	0	0	3	0	0	0	3	1	4	1	4	1	1	3	2	1	1	9	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:247978223A>G	ENST00000357627.1	-	1	808	c.809T>C	c.(808-810)gTa>gCa	p.V270A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGAAATTACAGCATCCAA	0.413																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(808-810)gTa>gCa		Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.							71	70	70					1																	247978223		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978223A>G	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.809T>C	1.37:g.247978223A>G	ENSP00000350248:p.Val270Ala						p.V270A	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			0	809	-			270					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.809T>C	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	9.334	1.061179	0.19987	.	.	ENSG00000196772	ENST00000357627	T	0.00262	8.4	3.69	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	2.726190	0.02989	U	0.146658	T	0.00178	0.0005	N	0.25992	0.78	0.09310	N	1	B	0.27192	0.171	B	0.36608	0.229	T	0.41875	-0.9484	10	0.22706	T	0.39	.	1.576	0.02624	0.5483:0.1802:0.0978:0.1737	.	270	Q8NHC5	O14AG_HUMAN	A	270	ENSP00000350248:V270A	ENSP00000350248:V270A	V	-	2	0	OR14A16	246044846	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.605000	0.36815	0.483000	0.27608	0.486000	0.48141	GTA		0.413	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		G	247978223	A	G	247978223	3	3	160	1	0	0	0	0	1	0	0	0	10945	391	14	4	124	4	OR14A16	1	247978223	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	76900985	247978223	1272398	6	11295											
CTNNA2	1496	broad.mit.edu	37	chr2	80874750	80874750	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccaggcagctaaaaaccTgatgaatgctgttgtcctca	12	11	8	10	0	1	2	1	2	0	0	3	2	3	2	3	1	3	4	3	1	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:80874750T>C	ENST00000402739.4	+	18	2620	c.2615T>C	c.(2614-2616)cTg>cCg	p.L872P	CTNNA2_ENST00000361291.4_Missense_Mutation_p.L858P|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L824P|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L824P|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L503P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L779P|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L824P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	872					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTAAAAACCTGATGAATGCT	0.468																																						uc010ysh.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2614-2616)cTg>cCg		Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.							137	134	135					2																	80874750		1958	4181	6139	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874750T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2615T>C	2.37:g.80874750T>C	ENSP00000384638:p.Leu872Pro					CTNNA2_uc010yse.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.2_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.2_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.2_Missense_Mutation_p.L153P	p.L872P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			17	2620	+			872					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2615T>C		.	.	.	.	.	.	.	.	.	.	T	20.5	3.999549	0.74818	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.07	6.07	0.98685	.	0.165970	0.40554	N	0.001073	D	0.88058	0.6335	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.90597	0.4541	9	.	.	.	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	456;872;779;824	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	P	824;824;858;872;824;779;503	ENSP00000418191:L824P;ENSP00000419295:L824P;ENSP00000355398:L858P;ENSP00000384638:L872P;ENSP00000444675:L824P;ENSP00000441705:L779P;ENSP00000341500:L503P	.	L	+	2	0	CTNNA2	80728261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CTG		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		C	80874750	T	C	80874750	3	2	160	1	0	0	0	0	1	0	0	0	4013	1580	55	4	2329	4	CTNNA2	2	80874750	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		80874750	162324623	7	11296											
RGPD4	285190	broad.mit.edu	37	chr2	108455335	108455335	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagaattgctttgtaaaaAtgatgttactgatggaagag	14	13	11	3	0	0	4	0	2	0	2	0	5	0	5	0	1	3	4	0	1	6	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:108455335A>T	ENST00000408999.3	+	4	397	c.320A>T	c.(319-321)aAt>aTt	p.N107I	RGPD4_ENST00000354986.4_Missense_Mutation_p.N107I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	107					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGTAAAAATGATGTTACT	0.333																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(319-321)aAt>aTt		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							82	87	85					2																	108455335		692	1582	2274	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108455335A>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.320A>T	2.37:g.108455335A>T	ENSP00000386810:p.Asn107Ile					RGPD4_uc002tdu.3_5'UTR	p.N107I	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			3	402	+			107					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.320A>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	a	2.873	-0.233589	0.05983	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.37058	1.22;1.22	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.26521	0.0648	L	0.42245	1.32	0.21967	N	0.999443	B	0.25850	0.136	B	0.26202	0.067	T	0.18967	-1.0320	9	0.21014	T	0.42	-32.2227	5.7659	0.18227	0.7613:0.0:0.0:0.2387	.	107	Q7Z3J3	RGPD4_HUMAN	I	107;107;50	ENSP00000347081:N107I;ENSP00000386810:N107I	ENSP00000347081:N107I	N	+	2	0	RGPD4	107821767	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.241000	0.51376	1.133000	0.42147	0.136000	0.15936	AAT		0.333	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		T	108455335	A	T	108455335	3	4	160	1	0	0	0	0	1	0	0	0	13288	101	4	5	334	5	RGPD4	2	108455335	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	27580585	108455335	134744038	8	11297											
SCN9A	6335	broad.mit.edu	37	chr2	167159653	167159653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgctttctaatgtttcaTtattttcaagtgaatttcga	10	21	5	5	1	3	1	2	1	1	0	4	2	3	1	0	0	1	2	0	0	5	8			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:167159653T>C	ENST00000409435.1	-	6	847	c.848A>G	c.(847-849)aAt>aGt	p.N283S	SCN9A_ENST00000409672.1_Missense_Mutation_p.N283S|SCN9A_ENST00000375387.4_Missense_Mutation_p.N284S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N284S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	283					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATGTTTCATTATTTTCAAG	0.338																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(847-849)aAt>aGt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						94	92	93					2																	167159653		2108	4282	6390	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167159653T>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.848A>G	2.37:g.167159653T>C	ENSP00000386330:p.Asn283Ser					SCN9A_uc002udr.1_Missense_Mutation_p.N154S|SCN9A_uc002uds.1_Missense_Mutation_p.N154S|SCN9A_uc002udt.1_Missense_Mutation_p.N154S	p.N283S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			6	1189	-			283					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.848A>G	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823587	0.50739	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96459	-3.99;-4.02;-4.01;-4.02;-3.92;-3.94	6.07	4.89	0.63831	Ion transport (1);	0.997866	0.08110	N	0.996326	D	0.93220	0.7840	L	0.33137	0.985	0.30255	N	0.793727	B;B;B	0.19445	0.036;0.001;0.002	B;B;B	0.29077	0.098;0.006;0.006	D	0.86662	0.1905	10	0.23891	T	0.37	.	7.9324	0.29909	0.1364:0.0:0.1429:0.7207	.	283;283;284	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	283;284;284;283;148;148	ENSP00000386306:N283S;ENSP00000364536:N284S;ENSP00000304748:N284S;ENSP00000386330:N283S;ENSP00000413212:N148S;ENSP00000393141:N148S	ENSP00000304748:N284S	N	-	2	0	SCN9A	166867899	0.997000	0.39634	0.981000	0.43875	0.377000	0.30045	3.816000	0.55658	1.084000	0.41184	0.477000	0.44152	AAT		0.338	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		C	167159653	T	C	167159653	3	2	160	1	0	0	0	0	1	0	0	0	13925	1493	52	4	5169	4	SCN9A	2	167159653	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	58704318	167159653	76039720	9	11298											
ZSWIM2	151112	broad.mit.edu	37	chr2	187713851	187713851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccttatagcctcggcGaagcatgctgggtgcgggcg	7	7	17	10	4	0	1	0	0	0	1	1	2	0	1	2	4	4	2	2	4	3	2	rs34437613		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:187713851G>T	ENST00000295131.2	-	1	46	c.7C>A	c.(7-9)Cgc>Agc	p.R3S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	3					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGCCTCGGCGAAGCATGCTG	0.642																																						uc002upu.1																			0		p.R3L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(7-9)Cgc>Agc		Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.							25	25	25					2																	187713851		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187713851G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.7C>A	2.37:g.187713851G>T	ENSP00000295131:p.Arg3Ser						p.R3S	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		0	47	-			3					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.7C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811227	0.50527	.	.	ENSG00000163012	ENST00000295131	T	0.27557	1.66	4.77	1.66	0.24008	.	0.425365	0.20119	N	0.098860	T	0.19327	0.0464	L	0.27053	0.805	0.19300	N	0.999972	B	0.17852	0.024	B	0.09377	0.004	T	0.20605	-1.0270	10	0.87932	D	0	-2.4302	7.778	0.29048	0.0:0.3394:0.4858:0.1748	.	3	Q8NEG5	ZSWM2_HUMAN	S	3	ENSP00000295131:R3S	ENSP00000295131:R3S	R	-	1	0	ZSWIM2	187422096	0.275000	0.24201	0.506000	0.27664	0.114000	0.19823	0.665000	0.25083	0.667000	0.31107	0.650000	0.86243	CGC		0.642	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		T	187713851	G	T	187713851	3	4	160	1	0	0	0	0	1	0	0	0	18238	1058	37	5	1930	5	ZSWIM2	2	187713851	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	20554198	187713851	55485522	10	11299											
FAM126B	285172	broad.mit.edu	37	chr2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttatccttggctgaaCgcccagttgctactttcctt	5	18	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	3	8	rs138872845		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	382						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1144-1146)cGt>cAt		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.		C	HIS/ARG	0,4406		0,0,2203	102	100	101		1145	5.8	1	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM126B	NM_173822.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/531	201846441	1,13005	2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846441C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1145G>A	2.37:g.201846441C>T	ENSP00000393667:p.Arg382His					FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1333	-			382					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1145G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927537	0.52759	0.0	1.16E-4	ENSG00000155744	ENST00000418596	T	0.80393	-1.37	5.76	5.76	0.90799	.	0.052330	0.85682	D	0.000000	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.84551	0.0644	10	0.40728	T	0.16	-9.4248	19.9664	0.97271	0.0:1.0:0.0:0.0	.	188;382	B3KUG1;Q8IXS8	.;F126B_HUMAN	H	382	ENSP00000393667:R382H	ENSP00000393667:R382H	R	-	2	0	FAM126B	201554686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.718000	0.92993	0.655000	0.94253	CGT		0.493	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		T	201846441	C	T	201846441	3	4	160	1	0	0	0	0	1	0	0	0	5430	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	14132590	201846441	41352932	11	11300											
ZDBF2	57683	broad.mit.edu	37	chr2	207176262	207176262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttgtttacaacaacGtgagagaatgatgactcggc	12	11	9	9	2	2	4	1	3	1	1	3	5	2	4	0	1	3	1	0	1	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:207176262G>A	ENST00000374423.3	+	5	7396	c.7010G>A	c.(7009-7011)cGt>cAt	p.R2337H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2337							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTACAACAACGTGAGAGAATG	0.428																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(7009-7011)cGt>cAt		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							47	48	48					2																	207176262		1925	4141	6066	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176262G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.7010G>A	2.37:g.207176262G>A	ENSP00000363545:p.Arg2337His						p.R2337H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	7260	+			2337					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.7010G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308326	0.23821	.	.	ENSG00000204186	ENST00000374423	T	0.45276	0.9	4.46	2.58	0.30949	.	.	.	.	.	T	0.26484	0.0647	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.21546	0.035	T	0.14980	-1.0453	9	0.59425	D	0.04	.	8.0491	0.30566	0.1711:0.5123:0.3167:0.0	.	2337	Q9HCK1	ZDBF2_HUMAN	H	2337	ENSP00000363545:R2337H	ENSP00000363545:R2337H	R	+	2	0	ZDBF2	206884507	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.103000	0.15292	0.543000	0.28864	-0.340000	0.08031	CGT		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207176262	G	A	207176262	3	1	160	1	0	0	0	0	1	0	0	0	17596	1145	40	1	7020	1	ZDBF2	2	207176262	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	5329821	207176262	36023111	12	11301											
CHRND	1144	broad.mit.edu	37	chr2	233394744	233394744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgccaggacatcaccttcTacctcatcatccgccgcaag	9	7	7	18	3	4	0	3	0	1	0	5	1	5	1	6	1	1	1	6	1	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:233394744T>C	ENST00000258385.3	+	7	747	c.715T>C	c.(715-717)Tac>Cac	p.Y239H	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.L202P|CHRND_ENST00000543200.1_Missense_Mutation_p.Y224H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	239					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CATCACCTTCTACCTCATCAT	0.612																																						uc002vsw.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(715-717)Tac>Cac		Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.							161	133	143					2																	233394744		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394744T>C	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.715T>C	2.37:g.233394744T>C	ENSP00000258385:p.Tyr239His					CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.Y224H|CHRND_uc010zmh.2_Intron	p.Y239H	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	6	719	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	239					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.715T>C	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.362525|4.362525	0.82353|0.82353	.|.	.|.	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|T;T	0.73897|0.79554	-0.79|-1.28;-1.28	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.120747	.|0.64402	.|D	.|0.000019	D|D	0.86318|0.86318	0.5904|0.5904	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.83013|0.83013	-0.0171|-0.0171	7|10	0.87932|0.14656	D|T	0|0.56	.|.	15.3496|15.3496	0.74373|0.74373	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224;239;239	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	P|H	202|224;239	ENSP00000437740:L202P|ENSP00000438380:Y224H;ENSP00000258385:Y239H	ENSP00000408819:L202P|ENSP00000258385:Y239H	L|Y	+|+	2|1	0|0	CHRND|CHRND	233102988|233102988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.203000|2.203000	0.42752|0.42752	2.105000|2.105000	0.64084|0.64084	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			C	233394744	T	C	233394744	3	2	160	1	0	0	0	0	1	0	0	0	3394	1522	53	4	741	4	CHRND	2	233394744	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	26218482	233394744	9804629	13	11302											
ATG4B	23192	broad.mit.edu	37	chr2	242592988	242592988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcggtgtggacagatgatCtttgcccaagccctggtgtg	6	11	14	10	1	1	2	0	1	1	1	1	3	1	3	2	3	3	0	2	3	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:242592988C>G	ENST00000404914.3	+	4	349	c.246C>G	c.(244-246)atC>atG	p.I82M	ATG4B_ENST00000402096.1_Missense_Mutation_p.I8M|ATG4B_ENST00000396411.3_Missense_Mutation_p.I8M|ATG4B_ENST00000405546.3_Missense_Mutation_p.I82M|ATG4B_ENST00000474739.2_Missense_Mutation_p.I68M	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	82					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.I82M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GACAGATGATCTTTGCCCAAG	0.642																																					Melanoma(78;458 1323 6342 12171 39523)	uc002wbv.3																			1	Substitution - Missense(1)	p.I82M(2)	endometrium(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(244-246)atC>atG		Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.							27	32	30					2																	242592988		2113	4201	6314	SO:0001583	missense	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242592988C>G	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.246C>G	2.37:g.242592988C>G	ENSP00000384259:p.Ile82Met					ATG4B_uc002wbu.3_Missense_Mutation_p.I8M|ATG4B_uc002wbw.3_Missense_Mutation_p.I82M|ATG4B_uc010zox.2_Missense_Mutation_p.I68M|ATG4B_uc010zoy.2_Missense_Mutation_p.I8M|ATG4B_uc010fzp.3_Missense_Mutation_p.I82M|ATG4B_uc010zoz.2_Missense_Mutation_p.I8M	p.I82M	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	3	349	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	82					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	ENST00000404914.3	37	c.246C>G	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663103	0.29515	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000419606;ENST00000474739;ENST00000396411;ENST00000425239;ENST00000400771;ENST00000430617;ENST00000429899;ENST00000311517	T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.6	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	N	0.10645	0.015	0.58432	D	0.999994	B;B;B;B;B	0.32128	0.357;0.213;0.178;0.115;0.094	B;B;B;B;B	0.37989	0.237;0.262;0.237;0.137;0.237	T	0.10660	-1.0620	10	0.23302	T	0.38	-35.9327	14.2069	0.65739	0.1502:0.8498:0.0:0.0	.	68;199;170;82;8	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	M	82;199;8;82;8;68;8;82;82;8;8;8	ENSP00000383964:I82M;ENSP00000384661:I8M;ENSP00000384259:I82M;ENSP00000400050:I8M;ENSP00000442378:I68M;ENSP00000379692:I8M;ENSP00000409895:I82M;ENSP00000383582:I82M;ENSP00000407389:I8M;ENSP00000410526:I8M	ENSP00000309348:I8M	I	+	3	3	ATG4B	242241661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.522000	0.35921	2.653000	0.90120	0.561000	0.74099	ATC		0.642	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		G	242592988	C	G	242592988	3	3	160	1	0	0	0	0	1	0	0	0	1097	903	32	5	260	5	ATG4B	2	242592988	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9198244	242592988	606385	14	11303											
ZFYVE20	64145	broad.mit.edu	37	chr3	15123959	15123959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtccttgcagtgtgtaCagcagcggatccggtcatcg	6	10	14	11	4	1	0	1	0	0	0	4	1	3	1	2	2	4	3	2	2	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:15123959C>A	ENST00000253699.3	-	9	1368	c.755G>T	c.(754-756)tGt>tTt	p.C252F	ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.C252F	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	252	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCAGTGTGTACAGCAGCGGAT	0.572																																						uc003bzm.1																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(754-756)tGt>tTt		Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.							165	130	142					3																	15123959		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15123959C>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.755G>T	3.37:g.15123959C>A	ENSP00000253699:p.Cys252Phe					ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	p.C252F	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			8	1369	-			252			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.755G>T	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653282	0.88056	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	D;D	0.96885	-4.16;-4.16	5.79	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98593	1.0655	10	0.87932	D	0	-14.1829	14.7188	0.69289	0.0:0.9304:0.0:0.0696	.	252	Q9H1K0	RBNS5_HUMAN	F	252	ENSP00000253699:C252F;ENSP00000422551:C252F	ENSP00000253699:C252F	C	-	2	0	ZFYVE20	15098963	1.000000	0.71417	0.887000	0.34795	0.997000	0.91878	7.738000	0.84966	1.436000	0.47453	0.585000	0.79938	TGT		0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		A	15123959	C	A	15123959	3	1	160	1	0	0	0	0	1	0	0	0	17663	478	17	5	1623	5	ZFYVE20	3	15123959	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		15123959	182898471	15	11304											
FLNB	2317	broad.mit.edu	37	chr3	58141766	58141766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggtcatcgcaccctcCgacgacgcccgccgcctcac	5	5	10	21	7	2	0	2	0	0	0	4	2	3	0	6	1	1	1	6	1	0	0	rs113304692		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:58141766C>T	ENST00000295956.4	+	41	7017	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	FLNB_ENST00000429972.2_Silent_p.S2273S|FLNB_ENST00000419752.2_Silent_p.S2104S|FLNB_ENST00000490882.1_Silent_p.S2315S|FLNB_ENST00000493452.1_Silent_p.S2091S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Silent_p.S2260S|FLNB_ENST00000348383.5_Silent_p.S2243S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2284	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGCACCCTCCGACGACGCCC	0.587																																						uc003djj.2																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6850-6852)tcC>tcT		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.		C	,,,	3,4403	6.2+/-15.9	0,3,2200	77	69	72		6945,6819,6780,6852	-11.6	0	3	dbSNP_132	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,	2315/2634,2273/2592,2260/2579,2284/2603	58141766	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58141766C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6852C>T	3.37:g.58141766C>T						FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	p.S2284S	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	40	7017	+			2284			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.6852C>T	CCDS2885.1																																																																																				0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	58141766	C	T	58141766	2	4	160	1	0	0	0	0	0	0	0	1	5934	639	23	2		2	FLNB	3	58141766	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	43017807	58141766	139880664	16	11305											
ROBO1	6091	broad.mit.edu	37	chr3	78711202	78711202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgtggaggtgcagaaCagcatttcccagctctctct	7	11	13	10	0	2	1	0	0	2	1	4	2	3	2	1	4	4	4	1	4	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:78711202C>T	ENST00000464233.1	-	15	2142	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	ROBO1_ENST00000495273.1_Missense_Mutation_p.V641I|ROBO1_ENST00000467549.1_Missense_Mutation_p.V641I|ROBO1_ENST00000436010.2_Missense_Mutation_p.V638I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	677	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.V654F(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTGCAGAACAGCATTTCCC	0.483																																						uc003dqe.2																			1	Substitution - Missense(1)	p.V654F(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2029-2031)Gtt>Att		Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.							88	97	94					3																	78711202		1977	4154	6131	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78711202C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2029G>A	3.37:g.78711202C>T	ENSP00000420321:p.Val677Ile					ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	p.V677I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	14	2237	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	677			Fibronectin type-III 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2029G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617961	0.46736	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61158	0.15;0.13;0.13;0.21	5.31	5.31	0.75309	Fibronectin, type III (3);	0.054018	0.64402	D	0.000001	T	0.56411	0.1983	L	0.46157	1.445	0.53688	D	0.999979	B;B;B;B;B;B	0.32302	0.015;0.05;0.193;0.363;0.106;0.086	B;B;B;B;B;B	0.37091	0.019;0.085;0.241;0.136;0.085;0.051	T	0.52381	-0.8583	9	.	.	.	.	18.9628	0.92682	0.0:1.0:0.0:0.0	.	641;641;677;641;641;638	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	I	638;641;677;641;641;681	ENSP00000406043:V638I;ENSP00000420321:V677I;ENSP00000420637:V641I;ENSP00000417992:V641I	.	V	-	1	0	ROBO1	78793892	0.999000	0.42202	0.778000	0.31720	0.694000	0.40290	4.018000	0.57174	2.456000	0.83038	0.555000	0.69702	GTT		0.483	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78711202	C	T	78711202	3	4	160	1	0	0	0	0	1	0	0	0	13513	478	17	3	2994	3	ROBO1	3	78711202	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	20569436	78711202	119311228	17	11306											
OR5H1	26341	broad.mit.edu	37	chr3	97851558	97851558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatggaagaggaaaatgCaacattgctgacagagtttg	15	8	13	5	0	0	3	0	1	0	2	0	6	0	6	0	3	3	3	0	3	4	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:97851558C>G	ENST00000354565.2	+	1	17	c.17C>G	c.(16-18)gCa>gGa	p.A6G	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GAGGAAAATGCAACATTGCTG	0.393																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(16-18)gCa>gGa		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							80	81	81					3																	97851558		2202	4293	6495	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851558C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.17C>G	3.37:g.97851558C>G	ENSP00000346575:p.Ala6Gly						p.A6G	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	17	+			6						Missense_Mutation	SNP	ENST00000354565.2	37	c.17C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	4.486	0.090183	0.08632	.	.	ENSG00000231192	ENST00000354565	T	0.00510	6.9	3.63	-3.98	0.04082	.	1.047220	0.07606	N	0.924569	T	0.00210	0.0006	N	0.04260	-0.245	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.29458	-1.0011	10	0.24483	T	0.36	.	3.2481	0.06804	0.4568:0.2243:0.0:0.319	.	6	A6NKK0	OR5H1_HUMAN	G	6	ENSP00000346575:A6G	ENSP00000346575:A6G	A	+	2	0	OR5H1	99334248	0.000000	0.05858	0.004000	0.12327	0.030000	0.12068	-2.181000	0.01257	-0.415000	0.07484	0.195000	0.17529	GCA		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		G	97851558	C	G	97851558	3	3	160	1	0	0	0	0	1	0	0	0	11159	710	25	5	19	5	OR5H1	3	97851558	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	19140356	97851558	100170872	18	11307											
CEP70	80321	broad.mit.edu	37	chr3	138216906	138216906	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatcattagtaaatgcctGaaatgctgggaaaaattcct	15	12	8	6	0	1	2	1	1	0	1	2	3	2	3	2	1	2	2	2	1	7	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:138216906G>A	ENST00000264982.3	-	17	1965	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	CEP70_ENST00000542237.1_Nonsense_Mutation_p.Q547*|CEP70_ENST00000489254.1_Nonsense_Mutation_p.Q415*|CEP70_ENST00000484888.1_Nonsense_Mutation_p.Q567*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	567					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTAAATGCCTGAAATGCTGGG	0.343																																						uc003esl.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(1699-1701)Cag>Tag		Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.							119	114	116					3																	138216906		2203	4300	6503	SO:0001587	stop_gained	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138216906G>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1699C>T	3.37:g.138216906G>A	ENSP00000264982:p.Gln567*					CEP70_uc011bmk.2_Nonsense_Mutation_p.Q547*|CEP70_uc011bml.2_Nonsense_Mutation_p.Q549*|CEP70_uc011bmm.2_Nonsense_Mutation_p.Q415*	p.Q567*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			16	1897	-			567					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Nonsense_Mutation	SNP	ENST00000264982.3	37	c.1699C>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	39	7.801013	0.98498	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000459695	.	.	.	5.27	5.27	0.74061	.	0.182066	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-1.7323	12.0106	0.53284	0.0:0.1736:0.8264:0.0	.	.	.	.	X	567;547;415;567;549;40	.	ENSP00000264982:Q567X	Q	-	1	0	CEP70	139699596	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.495000	0.81514	2.722000	0.93159	0.655000	0.94253	CAG		0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		A	138216906	G	A	138216906	4	1	160	1	0	0	0	0	0	1	0	0	3259	1299	45	3	102	3	CEP70	3	138216906	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	40365348	138216906	59805524	19	11308											
NAALADL2	254827	broad.mit.edu	37	chr3	174814645	174814645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggacactcacagtacttaGacaatgatgaccttcaagcc	14	8	7	12	0	2	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:174814645G>A	ENST00000454872.1	+	2	237	c.109G>A	c.(109-111)Gac>Aac	p.D37N	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	37						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACAGTACTTAGACAATGATGA	0.413																																						uc003fit.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(109-111)Gac>Aac		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.							48	45	46					3																	174814645		1910	4131	6041	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814645G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.109G>A	3.37:g.174814645G>A	ENSP00000404705:p.Asp37Asn					NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	p.D37N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	1	196	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	37					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.109G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146273	0.77888	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.34667	1.36;1.35	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000024	T	0.50684	0.1630	L	0.27053	0.805	0.35239	D	0.777603	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.965	T	0.58907	-0.7553	10	0.72032	D	0.01	-22.2559	20.2504	0.98404	0.0:0.0:1.0:0.0	.	20;37	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	N	20;37	ENSP00000409858:D20N;ENSP00000404705:D37N	ENSP00000409858:D20N	D	+	1	0	NAALADL2	176297339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.506000	0.81665	2.850000	0.98022	0.650000	0.86243	GAC		0.413	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		A	174814645	G	A	174814645	3	1	160	1	0	0	0	0	1	0	0	0	10130	942	33	3	115	3	NAALADL2	3	174814645	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	36597739	174814645	23207785	20	11309											
PDGFRA	5156	broad.mit.edu	37	chr4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccgtgtataagtcagggGaaacgattgtggtcacctgt	12	10	12	7	2	2	0	2	0	0	0	2	2	2	1	2	3	2	1	2	3	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:55131142G>A	ENST00000257290.5	+	5	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(685-687)Gaa>Aaa		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173	167	169					4																	55131142		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131142G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.685G>A	4.37:g.55131142G>A	ENSP00000257290:p.Glu229Lys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	p.E229K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		4	1016	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		229			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.685G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103790	0.94245	.	.	ENSG00000134853	ENST00000257290	T	0.68479	-0.33	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32884	U	0.005529	D	0.83202	0.5203	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.913	D	0.85423	0.1144	10	0.72032	D	0.01	.	18.8692	0.92306	0.0:0.0:1.0:0.0	.	229;229	P16234-3;P16234	.;PGFRA_HUMAN	K	229	ENSP00000257290:E229K	ENSP00000257290:E229K	E	+	1	0	PDGFRA	54825899	1.000000	0.71417	0.799000	0.32177	0.762000	0.43233	7.968000	0.87980	2.470000	0.83445	0.491000	0.48974	GAA		0.423	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55131142	G	A	55131142	3	1	160	1	0	0	0	0	1	0	0	0	11661	1175	41	3	699	3	PDGFRA	4	55131142	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		55131142	136023134	21	11310											
LRBA	987	broad.mit.edu	37	chr4	151357950	151357950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaactttggaacttgatCatcttcccatgattcataac	12	14	6	9	0	3	3	2	3	1	0	4	4	4	4	1	1	3	0	1	1	3	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:151357950C>A	ENST00000357115.3	-	46	7123	c.6880G>T	c.(6880-6882)Gat>Tat	p.D2294Y	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.D2283Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D2283Y|LRBA_ENST00000507224.1_Missense_Mutation_p.D2283Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2294	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAACTTGATCATCTTCCCAT	0.388																																						uc010ipj.3																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6880-6882)Gat>Tat		Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.							96	85	89					4																	151357950		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151357950C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6880G>T	4.37:g.151357950C>A	ENSP00000349629:p.Asp2294Tyr					LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.D184Y|LRBA_uc003ilt.4_Missense_Mutation_p.D942Y|LRBA_uc003ilu.4_Missense_Mutation_p.D2283Y	p.D2294Y	NM_006726	NP_006717	P50851	LRBA_HUMAN			45	7124	-	all_hematologic(180;0.151)		2294			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6880G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.161725|5.161725	0.94727|0.94727	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42|.	5.93|5.93	5.93|5.93	0.95920|0.95920	BEACH domain (4);|.	0.106944|.	0.64402|.	D|.	0.000006|.	D|D	0.83899|0.83899	0.5354|0.5354	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.555;0.926|.	D;B;D|.	0.63877|.	0.919;0.37;0.914|.	D|D	0.84204|0.84204	0.0452|0.0452	10|5	0.72032|.	D|.	0.01|.	.|.	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2294;2283;184|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	Y|I	2283;2283;2294;2283|935	ENSP00000446299:D2283Y;ENSP00000421552:D2283Y;ENSP00000349629:D2294Y;ENSP00000422180:D2283Y|.	ENSP00000349629:D2294Y|.	D|M	-|-	1|3	0|0	LRBA|LRBA	151577400|151577400	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.917000|0.917000	0.54804|0.54804	6.014000|6.014000	0.70784|0.70784	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			A	151357950	C	A	151357950	3	1	160	1	0	0	0	0	1	0	0	0	8931	826	29	5	1763	5	LRBA	4	151357950	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	96226808	151357950	39796326	22	11311											
FGG	2266	broad.mit.edu	37	chr4	155528109	155528109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtcagcttcaggtcccaCcttgaacatggcatagtctg	8	12	9	12	0	3	1	2	1	1	0	4	1	4	1	2	2	2	2	2	2	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:155528109C>T	ENST00000336098.3	-	8	915	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	FGG_ENST00000404648.3_Missense_Mutation_p.V293M|FGG_ENST00000407946.1_Missense_Mutation_p.V301M|FGG_ENST00000405164.1_Missense_Mutation_p.V301M	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	293	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCAGGTCCCACCTTGAACATG	0.493																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(877-879)Gtg>Atg		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						146	132	137					4																	155528109		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528109C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.877G>A	4.37:g.155528109C>T	ENSP00000336829:p.Val293Met					FGG_uc003iog.3_Missense_Mutation_p.V293M	p.V293M	NM_021870	NP_068656	P02679	FIBG_HUMAN			7	1018	-	all_hematologic(180;0.215)	Renal(120;0.0458)	293			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.877G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318402	0.60524	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	5.91	5.06	0.68205	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.116470	0.56097	D	0.000022	D	0.98548	0.9515	M	0.79123	2.44	0.51012	D	0.999902	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.998;0.997	P;D;D;D;P	0.72338	0.899;0.977;0.936;0.936;0.895	D	0.99274	1.0894	10	0.62326	D	0.03	.	16.3524	0.83220	0.1332:0.8668:0.0:0.0	.	190;301;293;301;293	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	M	293;301;293;301	ENSP00000384860:V293M;ENSP00000384101:V301M;ENSP00000336829:V293M;ENSP00000384552:V301M	ENSP00000336829:V293M	V	-	1	0	FGG	155747559	0.996000	0.38824	0.961000	0.40146	0.799000	0.45148	1.798000	0.38814	1.461000	0.47929	0.655000	0.94253	GTG		0.493	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		T	155528109	C	T	155528109	3	4	160	1	0	0	0	0	1	0	0	0	5870	507	18	3	511	3	FGG	4	155528109	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	4170159	155528109	35626167	23	11312											
SPEF2	79925	broad.mit.edu	37	chr5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaacatgaggaaagaCgacttaaagatttccaggat	20	7	8	6	1	0	3	0	1	0	2	1	6	1	5	1	2	2	0	1	2	6	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:35659271C>T	ENST00000356031.3	+	8	1283	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.R377*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.R377*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.R377*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	377					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.R377*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGAAAGACGACTTAAAGA	0.408																																						uc003jjo.3																			1	Substitution - Nonsense(1)	p.R377*(2)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1129-1131)Cga>Tga		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							49	52	51					5																	35659271		2203	4300	6503	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35659271C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1129C>T	5.37:g.35659271C>T	ENSP00000348314:p.Arg377*					SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.4_Nonsense_Mutation_p.R377*	p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1240	+	all_lung(31;7.56e-05)		377					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.1129C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	38	7.241348	0.98157	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	.	.	.	5.53	4.64	0.57946	.	0.065861	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4384	0.75165	0.1475:0.8525:0.0:0.0	.	.	.	.	X	377	.	ENSP00000282469:R377X	R	+	1	2	SPEF2	35695028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.126000	0.31344	1.296000	0.44742	0.491000	0.48974	CGA		0.408	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		T	35659271	C	T	35659271	4	4	160	1	0	0	0	0	0	1	0	0	15034	528	19	1	1159	1	SPEF2	5	35659271	Nonsense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		35659271	145255989	24	11313											
C5orf39	389289	broad.mit.edu	37	chr5	43040065	43040065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccacgatcttctgaactCacaataggtggaggctgggg	9	8	14	10	1	3	1	1	1	2	0	3	3	3	2	1	6	1	1	1	6	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:43040065C>T	ENST00000314890.3	-	2	1503	c.84G>A	c.(82-84)gtG>gtA	p.V28V	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	28																	CTTCTGAACTCACAATAGGTG	0.557											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jnf.3																			0											c.(82-84)gtG>gtA		Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.							41	48	46					5																	43040065		2202	4300	6502	SO:0001819	synonymous_variant	389289						receptor activity	g.chr5:43040065C>T	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"chromosome 5 open reading frame 39"	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.84G>A	5.37:g.43040065C>T			OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	p.V28V	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN			0	383	-			28					Q8NHX5	Silent	SNP	ENST00000314890.3	37	c.84G>A	CCDS34153.1																																																																																				0.557	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		T	43040065	C	T	43040065	2	4	160	1	0	0	0	0	0	0	0	1	2297	813	29	3		3	C5orf39	5	43040065	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	7380794	43040065	137875195	25	11314											
ITGA1	3672	broad.mit.edu	37	chr5	52145207	52145207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcctaaagttgttctaCgctgctgcgtatcattcaat	8	17	6	10	2	4	0	2	0	2	0	5	0	4	0	1	0	3	5	1	0	5	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:52145207C>T	ENST00000282588.6	+	2	528	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTGTTCTACGCTGCTGCGT	0.373																																						uc003jou.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(70-72)Cgc>Tgc		Homo sapiens integrin, alpha 1 (ITGA1), mRNA.							133	134	134					5																	52145207		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52145207C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.70C>T	5.37:g.52145207C>T	ENSP00000282588:p.Arg24Cys					ITGA1_uc003jov.3_Non-coding_Transcript	p.R24C	NM_181501	NP_852478	P56199	ITA1_HUMAN			1	484	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	24					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.70C>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817776	0.16607	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	0.205	0.15204	.	0.976260	0.08444	N	0.944947	T	0.76256	0.3962	N	0.25485	0.75	0.26840	N	0.968384	B	0.02656	0.0	B	0.04013	0.001	T	0.59810	-0.7384	10	0.31617	T	0.26	.	12.0425	0.53460	0.0755:0.6071:0.3174:0.0	.	24	P56199	ITA1_HUMAN	C	24	ENSP00000282588:R24C	ENSP00000282588:R24C	R	+	1	0	ITGA1	52180964	1.000000	0.71417	0.631000	0.29282	0.019000	0.09904	1.251000	0.32862	0.093000	0.17368	-0.865000	0.03005	CGC		0.373	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		T	52145207	C	T	52145207	3	4	160	1	0	0	0	0	1	0	0	0	7872	536	19	1	76	1	ITGA1	5	52145207	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9105142	52145207	128770053	26	11315											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855139	79855139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccttaggggccaatgCaggtttcctcacaggggaac	8	7	14	12	0	1	0	1	0	0	0	2	1	2	1	4	6	2	2	4	6	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:79855139C>T	ENST00000338682.3	-	5	1372	c.700G>A	c.(700-702)Gca>Aca	p.A234T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	234						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGCCAATGCAGGTTTCCTC	0.522																																						uc010jam.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(700-702)Gca>Aca		Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.							46	50	48					5																	79855139		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855139C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.700G>A	5.37:g.79855139C>T	ENSP00000339802:p.Ala234Thr					ANKRD34B_uc003kgw.3_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.3_Missense_Mutation_p.A234T|ANKRD34B_uc021yax.1_Missense_Mutation_p.A234T	p.A234T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	3	1050	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	234					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.700G>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728863	0.03135	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	5.85	-1.47	0.08772	.	1.111340	0.06917	N	0.808643	T	0.12774	0.0310	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36672	-0.9738	10	0.11794	T	0.64	-0.1333	0.3869	0.00404	0.2076:0.2794:0.2032:0.3098	.	234	A5PLL1	AN34B_HUMAN	T	234	ENSP00000339802:A234T	ENSP00000339802:A234T	A	-	1	0	ANKRD34B	79890895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.284000	0.02793	-0.345000	0.08325	-0.878000	0.02970	GCA		0.522	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		T	79855139	C	T	79855139	3	4	160	1	0	0	0	0	1	0	0	0	663	710	25	3	848	3	ANKRD34B	5	79855139	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	27709932	79855139	101060121	27	11316											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585466	101585466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaattggcattacaagggGctatcaagtttcccaattct	12	13	7	9	0	2	0	1	0	1	0	3	0	3	0	1	3	2	3	1	3	7	6	rs373841324		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:101585466G>A	ENST00000310954.6	-	9	1782	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTACAAGGGGCTATCAAGTT	0.373																																						uc003knm.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1495-1497)gCc>gTc		Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.							96	96	96					5																	101585466		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585466G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1496C>T	5.37:g.101585466G>A	ENSP00000309741:p.Ala499Val						p.A499V	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1783	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	499			Kazal-like.			Missense_Mutation	SNP	ENST00000310954.6	37	c.1496C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835633	0.50951	.	.	ENSG00000173930	ENST00000310954	T	0.40225	1.04	5.76	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.079098	0.52532	D	0.000078	T	0.61837	0.2379	M	0.86864	2.845	0.37939	D	0.93226	P	0.44816	0.844	P	0.52598	0.703	T	0.72447	-0.4291	10	0.66056	D	0.02	.	13.544	0.61693	0.0758:0.0:0.9242:0.0	.	499	Q6ZQN7	SO4C1_HUMAN	V	499	ENSP00000309741:A499V	ENSP00000309741:A499V	A	-	2	0	SLCO4C1	101613365	1.000000	0.71417	0.489000	0.27452	0.033000	0.12548	4.960000	0.63673	1.445000	0.47624	0.460000	0.39030	GCC		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		A	101585466	G	A	101585466	3	1	160	1	0	0	0	0	1	0	0	0	14730	1203	42	3	698	3	SLCO4C1	5	101585466	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	21730327	101585466	79329794	28	11317											
TXNDC15	79770	broad.mit.edu	37	chr5	134223439	134223439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgctcaccctctccAggtgggggctgtgtacctgg	4	9	14	14	0	2	0	1	0	1	0	3	0	2	0	4	4	3	4	4	4	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:134223439A>G	ENST00000358387.4	+	2	783	c.158A>G	c.(157-159)cAg>cGg	p.Q53R	TXNDC15_ENST00000546290.1_Missense_Mutation_p.Q30R	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	53					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCCTCTCCAGGTGGGGGCT	0.567																																						uc003lac.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(157-159)cAg>cGg		Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.							48	49	48					5																	134223439		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134223439A>G	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.158A>G	5.37:g.134223439A>G	ENSP00000351157:p.Gln53Arg					TXNDC15_uc010jdy.1_Intron	p.Q53R	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	816	+			53					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.158A>G	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.12|12.12	1.842963|1.842963	0.32606|0.32606	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000358387;ENST00000506916;ENST00000508810;ENST00000546290|ENST00000508779	T;T|.	0.49139|.	0.79;0.81|.	5.77|5.77	0.411|0.411	0.16392|0.16392	.|.	0.494492|.	0.20475|.	N|.	0.091620|.	T|T	0.20088|0.20088	0.0483|0.0483	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.33141|.	T|.	0.24|.	-12.9026|-12.9026	0.4762|0.4762	0.00540|0.00540	0.4162:0.1276:0.2091:0.2471|0.4162:0.1276:0.2091:0.2471	.|.	53|.	Q96J42|.	TXD15_HUMAN|.	R|G	53;51;36;30|37	ENSP00000351157:Q53R;ENSP00000443942:Q30R|.	ENSP00000351157:Q53R|.	Q|R	+|+	2|1	0|2	TXNDC15|TXNDC15	134251338|134251338	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.030000|0.030000	0.12068|0.12068	1.099000|1.099000	0.31013|0.31013	0.085000|0.085000	0.17107|0.17107	-0.353000|-0.353000	0.07706|0.07706	CAG|AGG		0.567	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		G	134223439	A	G	134223439	3	3	160	1	0	0	0	0	1	0	0	0	16791	188	7	4	164	4	TXNDC15	5	134223439	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	32637973	134223439	46691821	29	11318											
CDC23	8697	broad.mit.edu	37	chr5	137548883	137548883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcccgggtaaggcccGcaataagcagcagttgcttt	8	8	11	14	3	0	0	0	0	0	0	1	0	1	0	3	2	3	7	3	2	3	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137548883G>A	ENST00000394886.2	-	1	149	c.119C>T	c.(118-120)gCg>gTg	p.A40V	CDC23_ENST00000505120.1_Missense_Mutation_p.A40V|CDC23_ENST00000394884.3_Missense_Mutation_p.A40V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAAGGCCCGCAATAAGCAG	0.572																																						uc003lcl.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(118-120)gCg>gTg		Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.							80	90	87					5																	137548883		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548883G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.119C>T	5.37:g.137548883G>A	ENSP00000378350:p.Ala40Val					CDC23_uc003lcm.1_Missense_Mutation_p.A40V	p.A40V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		0	150	-			40					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.119C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223576	0.22457	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.42131	0.98;0.98;0.98	5.93	5.01	0.66863	Cdc23 (1);	0.107089	0.64402	D	0.000003	T	0.26593	0.0650	N	0.05467	-0.045	0.36629	D	0.876179	D;B	0.62365	0.991;0.034	P;B	0.47827	0.558;0.023	T	0.09885	-1.0654	10	0.02654	T	1	-12.4821	16.2719	0.82626	0.0:0.1325:0.8675:0.0	.	40;40	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	V	40	ENSP00000378350:A40V;ENSP00000378348:A40V;ENSP00000423704:A40V	ENSP00000378348:A40V	A	-	2	0	CDC23	137576782	1.000000	0.71417	0.952000	0.39060	0.994000	0.84299	4.093000	0.57714	2.826000	0.97356	0.655000	0.94253	GCG		0.572	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			A	137548883	G	A	137548883	3	1	160	1	0	0	0	0	1	0	0	0	3061	1087	38	1	1738	1	CDC23	5	137548883	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	3325444	137548883	43366377	30	11319											
FAM53C	51307	broad.mit.edu	37	chr5	137682463	137682463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctctccaccatggttcAtggcctgtagccccccaccc	6	9	7	19	0	2	0	1	0	1	0	4	0	3	0	7	2	1	3	7	2	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137682463A>G	ENST00000239906.5	+	5	1422	c.994A>G	c.(994-996)Atg>Gtg	p.M332V	FAM53C_ENST00000513056.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.M332V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	332										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCATGGTTCATGGCCTGTAG	0.572																																						uc003lcv.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(994-996)Atg>Gtg		Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.							49	52	51					5																	137682463		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137682463A>G	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.994A>G	5.37:g.137682463A>G	ENSP00000239906:p.Met332Val					FAM53C_uc003lcw.3_Missense_Mutation_p.M332V|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_3'UTR	p.M332V	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1464	+			332					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.994A>G	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452761	0.26074	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.45276	0.9;0.9	5.72	5.72	0.89469	.	0.186505	0.49916	D	0.000130	T	0.32285	0.0824	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.30029	0.11	T	0.10706	-1.0618	10	0.02654	T	1	-6.6923	10.6903	0.45867	0.8569:0.0:0.0:0.1431	.	332	Q9NYF3	FA53C_HUMAN	V	332	ENSP00000403705:M332V;ENSP00000239906:M332V	ENSP00000239906:M332V	M	+	1	0	FAM53C	137710362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.630000	0.46494	2.171000	0.68590	0.533000	0.62120	ATG		0.572	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		G	137682463	A	G	137682463	3	3	160	1	0	0	0	0	1	0	0	0	5581	217	8	4	1008	4	FAM53C	5	137682463	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	133580	137682463	43232797	31	11320											
PCDHA1	56147	broad.mit.edu	37	chr5	140167728	140167728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggcagcaggcggcgCgcgcatcccgttccgcgtgg	4	4	17	16	8	0	0	0	0	0	0	2	0	2	0	3	4	2	5	3	4	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140167728C>T	ENST00000504120.2	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A618V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGGCGCGCGCATCCCG	0.672																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1852-1854)gCg>gTg		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							68	72	71					5																	140167728		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167728C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1853C>T	5.37:g.140167728C>T	ENSP00000420840:p.Ala618Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A618V	p.A618V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1853	+			629			Cadherin 6.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1853C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	1.011	-0.687777	0.03328	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.38560	1.13;1.13	3.25	1.1	0.20463	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29652	0.0740	N	0.25890	0.77	0.09310	N	1	B;B	0.18166	0.026;0.021	B;B	0.15870	0.014;0.008	T	0.24154	-1.0168	9	0.46703	T	0.11	.	11.0192	0.47707	0.0:0.6816:0.3184:0.0	.	618;618	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	618	ENSP00000420840:A618V;ENSP00000367373:A618V	ENSP00000367373:A618V	A	+	2	0	PCDHA1	140147912	0.832000	0.29368	0.002000	0.10522	0.023000	0.10783	0.915000	0.28638	0.434000	0.26340	0.484000	0.47621	GCG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140167728	C	T	140167728	3	4	160	1	0	0	0	0	1	0	0	0	11519	768	27	1	1855	1	PCDHA1	5	140167728	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	2485265	140167728	40747532	32	11321											
PCDHB7	56129	broad.mit.edu	37	chr5	140553181	140553181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcaggtgcccgaaaatagCcccgttggttccatggttgt	7	11	13	10	2	0	0	0	0	0	0	1	1	1	0	4	3	3	4	4	3	3	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140553181C>T	ENST00000231137.3	+	1	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(763-765)agC>agT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							67	72	70					5																	140553181		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553181C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.765C>T	5.37:g.140553181C>T							p.S255S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	939	+			255			Cadherin 3.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.765C>T	CCDS4249.1																																																																																				0.507	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553181	C	T	140553181	2	4	160	1	0	0	0	0	0	0	0	1	11547	738	26	3		3	PCDHB7	5	140553181	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	385453	140553181	40362079	33	11322											
SLC34A1	6569	broad.mit.edu	37	chr5	176815108	176815108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcactcgacttgtggtggCctccttcaacatccatggtg	7	12	9	13	1	2	0	2	0	0	0	5	1	4	0	3	3	1	0	3	3	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:176815108C>A	ENST00000324417.5	+	7	849	c.758C>A	c.(757-759)gCc>gAc	p.A253D	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A253D	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	253					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGTGGTGGCCTCCTTCAAC	0.592																																						uc003mgk.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(757-759)gCc>gAc		Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.							75	65	68					5																	176815108		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176815108C>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.758C>A	5.37:g.176815108C>A	ENSP00000321424:p.Ala253Asp					SLC34A1_uc021yis.1_Missense_Mutation_p.A253D	p.A253D	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	862	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	253					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.758C>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	8.124	0.781551	0.16120	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	T;T	0.46063	0.88;1.55	5.05	4.18	0.49190	.	0.333064	0.31922	N	0.006858	T	0.17789	0.0427	N	0.04297	-0.235	0.09310	N	0.999993	B	0.06786	0.001	B	0.12837	0.008	T	0.21314	-1.0249	10	0.13108	T	0.6	-21.4714	7.3188	0.26515	0.2887:0.6327:0.0:0.0787	.	253	Q06495	NPT2A_HUMAN	D	253	ENSP00000423022:A253D;ENSP00000321424:A253D	ENSP00000321424:A253D	A	+	2	0	SLC34A1	176747714	0.028000	0.19301	1.000000	0.80357	0.925000	0.55904	0.384000	0.20668	1.140000	0.42260	0.561000	0.74099	GCC		0.592	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		A	176815108	C	A	176815108	3	1	160	1	0	0	0	0	1	0	0	0	14567	739	26	5	780	5	SLC34A1	5	176815108	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	36261927	176815108	4100152	34	11323											
FLT4	2324	broad.mit.edu	37	chr5	180048821	180048821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctcgtacttgtagctgtCggcttggcagctcaggagca	7	11	13	10	2	1	0	1	0	0	0	3	1	1	1	0	3	5	8	0	3	2	4	rs368426530		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:180048821C>T	ENST00000261937.6	-	13	1819	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FLT4_ENST00000393347.3_Missense_Mutation_p.D581N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D581N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	581	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAGCTGTCGGCTTGGCAG	0.617																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1741-1743)Gac>Aac		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	82	85	84		1741,1741	4.6	0.9	5		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT4	NM_002020.4,NM_182925.4	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	581/1299,581/1364	180048821	1,13005	2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048821C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1741G>A	5.37:g.180048821C>T	ENSP00000261937:p.Asp581Asn					FLT4_uc003mma.4_Missense_Mutation_p.D581N|FLT4_uc003mmb.1_Missense_Mutation_p.D114N|FLT4_uc011dgy.2_Missense_Mutation_p.D581N	p.D581N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	1820	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	581			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1741G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102599	0.76983	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13307	2.6;2.6;2.6	4.64	4.64	0.57946	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33933	0.0880	L	0.57536	1.79	0.80722	D	1	D;P;P;P	0.89917	1.0;0.905;0.893;0.893	D;B;B;B	0.80764	0.994;0.392;0.416;0.416	T	0.02519	-1.1147	9	0.34782	T	0.22	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	581;391;581;581	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	581;581;581;391	ENSP00000261937:D581N;ENSP00000377016:D581N;ENSP00000426057:D581N	ENSP00000261937:D581N	D	-	1	0	FLT4	179981427	1.000000	0.71417	0.930000	0.37139	0.441000	0.31987	7.487000	0.81328	2.300000	0.77407	0.561000	0.74099	GAC		0.617	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180048821	C	T	180048821	3	4	160	1	0	0	0	0	1	0	0	0	5944	884	31	2	2430	2	FLT4	5	180048821	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	3233713	180048821	866439	35	11324											
NKAPL	222698	broad.mit.edu	37	chr6	28227888	28227888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaataagaaaaccaaaaaaGaatccagtgactcaagctgt	21	6	7	7	0	1	4	1	1	0	3	2	4	2	4	2	0	2	1	2	0	9	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:28227888G>A	ENST00000343684.3	+	1	791	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	247										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AACCAAAAAAGAATCCAGTGA	0.368																																						uc003nkt.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(739-741)Gaa>Aaa		Homo sapiens NFKB activating protein-like (NKAPL), mRNA.							25	27	27					6																	28227888		2202	4300	6502	SO:0001583	missense	222698							g.chr6:28227888G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.739G>A	6.37:g.28227888G>A	ENSP00000345716:p.Glu247Lys					ZKSCAN4_uc011dlb.1_5'Flank	p.E247K	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			0	791	+			247					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.739G>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293127	0.23564	.	.	ENSG00000189134	ENST00000343684	T	0.13420	2.59	4.21	2.43	0.29744	.	28.980700	0.00357	N	0.000021	T	0.06781	0.0173	M	0.66939	2.045	0.58432	D	0.99999	B	0.32653	0.379	B	0.23150	0.044	T	0.39482	-0.9612	10	0.29301	T	0.29	-2.4831	8.5718	0.33574	0.1928:0.0:0.8072:0.0	.	247	Q5M9Q1	NKAPL_HUMAN	K	247	ENSP00000345716:E247K	ENSP00000345716:E247K	E	+	1	0	NKAPL	28335867	1.000000	0.71417	0.129000	0.21949	0.623000	0.37688	2.037000	0.41174	0.726000	0.32339	0.655000	0.94253	GAA		0.368	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			A	28227888	G	A	28227888	3	1	160	1	0	0	0	0	1	0	0	0	10440	943	33	3	741	3	NKAPL	6	28227888	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		28227888	142887179	36	11325											
PKHD1	5314	broad.mit.edu	37	chr6	51768472	51768472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggagagtccctcggcacCagaaacctggatgatcacgt	11	8	11	11	2	1	3	1	1	0	2	3	5	2	4	3	3	1	1	3	3	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:51768472C>T	ENST00000371117.3	-	43	7194	c.6919G>A	c.(6919-6921)Ggt>Agt	p.G2307S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2307S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2307					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTCGGCACCAGAAACCTGG	0.418																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6919-6921)Ggt>Agt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							186	170	175					6																	51768472		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51768472C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6919G>A	6.37:g.51768472C>T	ENSP00000360158:p.Gly2307Ser					PKHD1_uc010jzn.1_Missense_Mutation_p.G290S|PKHD1_uc003pai.3_Missense_Mutation_p.G2307S	p.G2307S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			42	7195	-	Lung NSC(77;0.0605)		2307					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6919G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561191	0.65538	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79749	-1.3;-1.3	5.87	5.87	0.94306	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.360108	0.26041	N	0.026686	T	0.78336	0.4267	M	0.64997	1.995	0.30741	N	0.746179	P;B;P	0.52692	0.885;0.063;0.955	P;B;P	0.54889	0.589;0.072;0.763	T	0.73151	-0.4073	10	0.11485	T	0.65	.	17.3804	0.87403	0.0:1.0:0.0:0.0	.	2307;2307;2307	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2307	ENSP00000360158:G2307S;ENSP00000341097:G2307S	ENSP00000341097:G2307S	G	-	1	0	PKHD1	51876431	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	4.428000	0.59894	2.770000	0.95276	0.650000	0.86243	GGT		0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51768472	C	T	51768472	3	4	160	1	0	0	0	0	1	0	0	0	11971	594	21	3	5444	3	PKHD1	6	51768472	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	23540584	51768472	119346595	37	11326											
BMP5	653	broad.mit.edu	37	chr6	55638880	55638880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattctggaggagtcctgatGagagctggatttattgcggt	8	13	14	6	1	1	2	0	2	1	1	2	6	2	5	1	4	2	1	1	4	1	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:55638880G>A	ENST00000370830.3	-	4	1692	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	BMP5_ENST00000446683.2_Missense_Mutation_p.H332Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	332					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGTCCTGATGAGAGCTGGAT	0.468																																						uc003pcq.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(994-996)Cat>Tat		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.							168	146	154					6																	55638880		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638880G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.994C>T	6.37:g.55638880G>A	ENSP00000359866:p.His332Tyr					BMP5_uc011dxf.2_Missense_Mutation_p.H332Y	p.H332Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	1706	-	Lung NSC(77;0.0462)		332					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.994C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354086	0.41700	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72725	-0.68;-0.26	5.74	5.74	0.90152	.	0.419107	0.30658	N	0.009147	T	0.40015	0.1100	N	0.08118	0	0.40619	D	0.981746	B;B	0.19331	0.035;0.035	B;B	0.26614	0.071;0.044	T	0.46076	-0.9217	10	0.59425	D	0.04	.	13.1723	0.59606	0.0727:0.0:0.9273:0.0	.	332;332	B4E0Y4;P22003	.;BMP5_HUMAN	Y	332	ENSP00000359866:H332Y;ENSP00000391818:H332Y	ENSP00000359866:H332Y	H	-	1	0	BMP5	55746839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.685000	0.84117	2.703000	0.92315	0.655000	0.94253	CAT		0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			A	55638880	G	A	55638880	3	1	160	1	0	0	0	0	1	0	0	0	1463	1290	45	3	386	3	BMP5	6	55638880	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	3870408	55638880	115476187	38	11327											
BEND6	221336	broad.mit.edu	37	chr6	56883316	56883316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaagaagccaaatttaagCaaaaatcttaactctcagga	19	8	5	9	0	2	1	1	0	2	1	3	2	2	2	2	1	3	1	2	1	7	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:56883316C>G	ENST00000370746.3	+	6	1079	c.810C>G	c.(808-810)agC>agG	p.S270R	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.S172R	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	270	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATTTAAGCAAAAATCTTA	0.313																																						uc010kab.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(808-810)agC>agG		Homo sapiens BEN domain containing 6 (BEND6), mRNA.							69	66	67					6																	56883316		1816	4074	5890	SO:0001583	missense	221336							g.chr6:56883316C>G	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.810C>G	6.37:g.56883316C>G	ENSP00000359782:p.Ser270Arg					BEND6_uc003pdi.4_Missense_Mutation_p.S172R	p.S270R	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			5	1396	+			270			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.810C>G	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297011	0.81025	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	5.49	5.49	0.81192	BEN domain (1);	0.000000	0.44688	U	0.000437	T	0.39784	0.1091	N	0.08118	0	0.44175	D	0.996989	D;D	0.64830	0.986;0.994	P;P	0.56514	0.8;0.799	T	0.53662	-0.8407	9	0.87932	D	0	-13.7122	16.8714	0.86041	0.0:1.0:0.0:0.0	.	270;172	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	R	270;172	.	ENSP00000359782:S270R	S	+	3	2	BEND6	56991275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.960000	0.49161	2.727000	0.93392	0.655000	0.94253	AGC		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		G	56883316	C	G	56883316	3	3	160	1	0	0	0	0	1	0	0	0	1402	709	25	5	828	5	BEND6	6	56883316	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	1244436	56883316	114231751	39	11328											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611257	62611257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacgtagttgttcctgaCgaatttcatcattgtagtcc	9	16	7	9	2	3	1	3	1	0	0	5	2	5	1	2	0	0	4	2	0	3	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:62611257C>T	ENST00000281156.4	-	5	781	c.503G>A	c.(502-504)cGt>cAt	p.R168H		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGTTCCTGACGAATTTCATC	0.403																																						uc003peg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(502-504)cGt>cAt		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							99	98	98					6																	62611257		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611257C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.503G>A	6.37:g.62611257C>T	ENSP00000281156:p.Arg168His						p.R168H	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	4	750	-			168					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.503G>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985555	0.74589	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.19806	2.12	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00478	-1.1715	10	0.44086	T	0.13	-3.1157	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q5VWX1	KHDR2_HUMAN	H	168	ENSP00000281156:R168H	ENSP00000281156:R168H	R	-	2	0	KHDRBS2	62669216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.162000	0.71874	2.941000	0.99782	0.655000	0.94253	CGT		0.403	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		T	62611257	C	T	62611257	3	4	160	1	0	0	0	0	1	0	0	0	8147	536	19	1	566	1	KHDRBS2	6	62611257	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5727941	62611257	108503810	40	11329											
SNAP91	9892	broad.mit.edu	37	chr6	84303343	84303343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcagttgcgggaactGgaggggctgtgctagctgta	9	8	18	6	1	0	0	0	0	0	0	0	3	0	3	0	5	5	6	0	5	4	3	rs376878292		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:84303343G>C	ENST00000439399.2	-	18	1866	c.1550C>G	c.(1549-1551)cCa>cGa	p.P517R	SNAP91_ENST00000521743.1_Missense_Mutation_p.P517R|SNAP91_ENST00000195649.6_Missense_Mutation_p.P517R|SNAP91_ENST00000369694.2_Missense_Mutation_p.P517R|SNAP91_ENST00000520302.1_Missense_Mutation_p.P515R|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.P517R|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.P517R	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	517	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGGGAACTGGAGGGGCTGT	0.607																																						uc021zcf.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1549-1551)cCa>cGa		Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.							20	27	25					6																	84303343		2143	4262	6405	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84303343G>C	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1550C>G	6.37:g.84303343G>C	ENSP00000400459:p.Pro517Arg					SNAP91_uc011dzd.2_Missense_Mutation_p.P20R|SNAP91_uc003pka.3_Missense_Mutation_p.P515R|SNAP91_uc011dze.2_Missense_Mutation_p.P515R|SNAP91_uc003pkc.3_Missense_Mutation_p.P515R|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P480R	p.P517R	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	16	1580	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	517			Ala-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1550C>G	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354226	0.82243	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.15256	2.45;2.48;2.48;2.45;2.5;2.44;2.48	5.63	5.63	0.86233	.	0.417900	0.28088	N	0.016658	T	0.13713	0.0332	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.41313	0.745;0.535;0.535;0.535	B;B;B;B	0.42959	0.403;0.228;0.331;0.228	T	0.01476	-1.1345	10	0.66056	D	0.02	-5.7058	19.6728	0.95916	0.0:0.0:1.0:0.0	.	398;515;517;515	B7Z2N2;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	R	517;517;517;517;517;515;517;200	ENSP00000429776:P517R;ENSP00000358708:P517R;ENSP00000400459:P517R;ENSP00000195649:P517R;ENSP00000412492:P517R;ENSP00000428511:P515R;ENSP00000428215:P517R	ENSP00000195649:P517R	P	-	2	0	SNAP91	84360062	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.258000	0.89853	2.646000	0.89796	0.462000	0.41574	CCA		0.607	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			C	84303343	G	C	84303343	3	2	160	1	0	0	0	0	1	0	0	0	14833	1348	47	5	1221	5	SNAP91	6	84303343	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	21692086	84303343	86811724	41	11330											
MAP3K7	6885	broad.mit.edu	37	chr6	91266234	91266234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaccttcaaaaacttcagGtgccatccaagcagcactcc	12	10	5	14	0	2	0	2	0	0	0	4	0	4	0	4	1	5	2	4	1	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:91266234G>A	ENST00000369329.3	-	6	753	c.592C>T	c.(592-594)Cct>Tct	p.P198S	MAP3K7_ENST00000369327.3_Missense_Mutation_p.P198S|MAP3K7_ENST00000369332.3_Missense_Mutation_p.P198S|MAP3K7_ENST00000369325.3_Missense_Mutation_p.P198S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	198	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAACTTCAGGTGCCATCCAA	0.403																																						uc003pnz.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(592-594)Cct>Tct		Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.							146	129	135					6																	91266234		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91266234G>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.592C>T	6.37:g.91266234G>A	ENSP00000358335:p.Pro198Ser					MAP3K7_uc003pob.1_Missense_Mutation_p.P198S|MAP3K7_uc003poa.1_Missense_Mutation_p.P198S|MAP3K7_uc003poc.1_Missense_Mutation_p.P198S	p.P198S	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	897	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	198			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.592C>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650811	0.87958	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.04	5.04	0.67666	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98849	4.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96555	0.9411	10	0.87932	D	0	.	18.3589	0.90368	0.0:0.0:1.0:0.0	.	198;198;198;198	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	S	198;198;198;198;125	ENSP00000358338:P198S;ENSP00000358335:P198S;ENSP00000358331:P198S;ENSP00000358333:P198S	ENSP00000358331:P198S	P	-	1	0	MAP3K7	91322955	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.864000	0.99589	2.325000	0.78763	0.460000	0.39030	CCT		0.403	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		A	91266234	G	A	91266234	3	1	160	1	0	0	0	0	1	0	0	0	9255	1261	44	3	1276	3	MAP3K7	6	91266234	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6962891	91266234	79848833	42	11331											
SEPT7	989	broad.mit.edu	37	chr7	35942771	35942771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtcagttcgaggatgAgaaagcaaactgggaagctc	13	7	13	8	3	1	1	1	1	0	1	4	5	1	3	0	2	3	3	0	2	3	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:35942771A>G	ENST00000435235.1	+	12	1493	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	SEPT7_ENST00000494488.2_3'UTR|SEPT7_ENST00000350320.6_Missense_Mutation_p.E406G|SEPT7_ENST00000399034.2_Missense_Mutation_p.E408G|SEPT7_ENST00000432293.2_Missense_Mutation_p.E58G|SEPT7_ENST00000399035.3_Missense_Mutation_p.E406G			Q16181	SEPT7_HUMAN	septin 7	407					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTCGAGGATGAGAAAGCAAAC	0.383																																						uc010kxc.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(1213-1215)gAg>gGg		Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.							58	55	56					7																	35942771		1851	4095	5946	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35942771A>G	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.1061A>G	7.37:g.35942771A>G	ENSP00000413507:p.Glu354Gly					SEPT7_uc011kat.2_Missense_Mutation_p.E405G|SEPT7_uc011kau.2_Missense_Mutation_p.E371G|SEPT7_uc011kav.2_Missense_Mutation_p.E354G	p.E405G	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			11	1438	+			407					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.1214A>G		.	.	.	.	.	.	.	.	.	.	A	21.3	4.122687	0.77436	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000432293	T;T;T;T	0.55930	0.5;0.49;0.49;0.49	5.12	5.12	0.69794	.	0.060660	0.64402	U	0.000005	T	0.59622	0.2207	M	0.64997	1.995	0.80722	D	1	P;D;D	0.56287	0.954;0.975;0.975	P;P;P	0.50136	0.548;0.632;0.632	T	0.62374	-0.6868	10	0.45353	T	0.12	.	15.2138	0.73247	1.0:0.0:0.0:0.0	.	352;406;407	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	G	354;408;406;406;352;354;58	ENSP00000413507:E354G;ENSP00000381992:E408G;ENSP00000344868:E406G;ENSP00000381993:E406G	ENSP00000344868:E406G	E	+	2	0	SEPT7	35909296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.053000	0.61076	0.496000	0.49642	GAG		0.383	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		G	35942771	A	G	35942771	3	3	160	1	0	0	0	0	1	0	0	0	14069	304	11	4	1264	4	SEPT7	7	35942771	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		35942771	123195892	43	11332											
C7orf64	84060	broad.mit.edu	37	chr7	92163996	92163997	+	Frame_Shift_Del	DEL	TT	TT	-																															cattataaccacaatgactcTttgcggaaaacacagataaa																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:92163996_92163997delTT	ENST00000265732.5	+	4	770_771	c.729_730delTT	c.(727-732)tctttgfs	p.L244fs	RBM48_ENST00000481551.1_Frame_Shift_Del_p.L244fs	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	244						nucleus (GO:0005634)	RNA binding (GO:0003723)										ACAATGACTCTTTGCGGAAAAC	0.45																																						uc003uma.3																			0											c.(727-732)tctttgfs		Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.				2,3640		1,0,1820						2.5	0			92	3,7865		1,1,3932	no	frameshift	C7orf64	NM_032120.2		2,1,5752	A1A1,A1R,RR		0.0381,0.0549,0.0434				5,11505				SO:0001589	frameshift_variant	84060						nucleotide binding	g.chr7:92163996_92163997delTT	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.729_730delTT	7.37:g.92163996_92163997delTT	ENSP00000265732:p.Leu244fs					RBM48_uc003ulz.3_Frame_Shift_Del_p.S243fs	p.S243fs			Q5RL73	CG064_HUMAN			3	770_771	+			243					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Frame_Shift_Del	DEL	ENST00000265732.5	37	c.729_730delTT	CCDS43615.1																																																																																				0.45	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		-	92163997	TT	-	92163996	7	5	160	1	0	1	0	1	0	0	0	0	2410	1596	56	0	743	0	C7orf64	7	92163996	Frame_Shift_Del	DEL	TT	TCGA-19-2631-01A-01D-1353-08	56221225	92163996	66974667	44	11333											
SRRT	51593	broad.mit.edu	37	chr7	100485931	100485931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctccatacccccatgccCcgtatggtgctggtcgaggg	5	8	12	16	2	0	0	0	0	0	0	2	1	1	0	6	3	3	2	6	3	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:100485931C>G	ENST00000347433.4	+	19	2640	c.2482C>G	c.(2482-2484)Ccg>Gcg	p.P828A	SRRT_ENST00000457580.2_Missense_Mutation_p.P824A|SRRT_ENST00000388793.4_Missense_Mutation_p.P827A|SRRT_ENST00000432932.1_Missense_Mutation_p.P823A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	828	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCCATGCCCCGTATGGTGC	0.577																																						uc003uwy.2																			0		p.P828Q(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2482-2484)Ccg>Gcg		Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.							58	62	61					7																	100485931		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485931C>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2482C>G	7.37:g.100485931C>G	ENSP00000314491:p.Pro828Ala					SRRT_uc010lhl.1_Missense_Mutation_p.P827A|SRRT_uc003uxa.2_Missense_Mutation_p.P823A|SRRT_uc003uwz.2_Missense_Mutation_p.P824A|DJ051769_uc010lhm.1_5'Flank	p.P828A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			18	2749	+			828			Pro-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.2482C>G	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061600	0.19987	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.59	3.71	0.42584	Arsenite-resistance protein 2 (1);	0.190417	0.46442	D	0.000299	T	0.45377	0.1339	L	0.58810	1.83	0.36789	D	0.884764	B;P;P;P	0.45474	0.356;0.859;0.759;0.798	B;B;B;B	0.42030	0.115;0.373;0.244;0.358	T	0.49934	-0.8886	9	0.11794	T	0.64	.	10.6135	0.45436	0.0:0.9047:0.0:0.0953	.	827;823;824;828	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	A	824;827;823;828;451	.	ENSP00000314491:P828A	P	+	1	0	SRRT	100323867	0.991000	0.36638	0.031000	0.17742	0.287000	0.27160	4.805000	0.62561	1.154000	0.42482	0.484000	0.47621	CCG		0.577	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		G	100485931	C	G	100485931	3	3	160	1	0	0	0	0	1	0	0	0	15171	623	22	5	2552	5	SRRT	7	100485931	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	8321935	100485931	58652732	45	11334											
LAMB4	22798	broad.mit.edu	37	chr7	107708521	107708521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtcacagcagcgccCgaccacaagaggtttacact	11	6	9	15	2	1	1	1	0	0	1	1	2	1	1	3	1	3	3	3	1	2	2	rs544784448		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:107708521C>T	ENST00000388781.3	-	19	2469	c.2386G>A	c.(2386-2388)Ggg>Agg	p.G796R	LAMB4_ENST00000205386.4_Missense_Mutation_p.G796R|LAMB4_ENST00000388780.3_Missense_Mutation_p.G796R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	796	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCAGCGCCCGACCACAAGA	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		17915	0		0	False		,,,				2504	0					uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2386-2388)Ggg>Agg		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							171	160	164					7																	107708521		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107708521C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2386G>A	7.37:g.107708521C>T	ENSP00000373433:p.Gly796Arg					LAMB4_uc003vey.2_Missense_Mutation_p.G796R	p.G796R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			18	2470	-			796			Laminin EGF-like 6.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2386G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094972	0.76870	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	D;D;D	0.85629	-2.01;-2.01;-2.01	4.78	4.78	0.61160	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.56097	D	0.000034	D	0.94476	0.8222	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95672	0.8724	10	0.87932	D	0	.	18.3584	0.90367	0.0:1.0:0.0:0.0	.	796	A4D0S4	LAMB4_HUMAN	R	796	ENSP00000205386:G796R;ENSP00000373433:G796R;ENSP00000373432:G796R	ENSP00000205386:G796R	G	-	1	0	LAMB4	107495757	1.000000	0.71417	0.686000	0.30086	0.350000	0.29205	5.361000	0.66092	2.640000	0.89533	0.655000	0.94253	GGG		0.567	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107708521	C	T	107708521	3	4	160	1	0	0	0	0	1	0	0	0	8613	652	23	2	2963	2	LAMB4	7	107708521	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	7222590	107708521	51430142	46	11335											
GPR85	54329	broad.mit.edu	37	chr7	112724397	112724397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctctttgtatagaagCggtgatgggcgatagctaaa	11	11	12	7	2	2	2	1	1	1	1	2	3	2	2	1	2	3	2	1	2	6	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:112724397C>T	ENST00000297146.3	-	3	983	c.380G>A	c.(379-381)cGc>cAc	p.R127H	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000424100.1_Missense_Mutation_p.R127H|GPR85_ENST00000449591.1_Missense_Mutation_p.R127H|GPR85_ENST00000501255.2_Missense_Mutation_p.R127H	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	127					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGTATAGAAGCGGTGATGGGC	0.493																																						uc010ljv.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(379-381)cGc>cAc		Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.							70	71	71					7																	112724397		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724397C>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.380G>A	7.37:g.112724397C>T	ENSP00000297146:p.Arg127His					GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H|GPR85_uc022akd.1_Missense_Mutation_p.R127H	p.R127H	NM_001146266	NP_061843	P60893	GPR85_HUMAN			1	897	-			127					Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.380G>A	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964276	0.74131	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.62062	-0.6933	10	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	127	P60893	GPR85_HUMAN	H	127	ENSP00000445808:R127H;ENSP00000297146:R127H;ENSP00000396763:R127H;ENSP00000401178:R127H	ENSP00000297146:R127H	R	-	2	0	GPR85	112511633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.539000	0.85634	0.561000	0.74099	CGC		0.493	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			T	112724397	C	T	112724397	3	4	160	1	0	0	0	0	1	0	0	0	6715	768	27	1	736	1	GPR85	7	112724397	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5015876	112724397	46414266	47	11336											
GRM8	2918	broad.mit.edu	37	chr7	126173579	126173579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtaactaagttcGcgtcctgaagccctcacgat	11	8	10	12	4	1	1	1	1	0	0	3	3	2	2	2	1	3	3	2	1	3	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)	p.R619R(2)|p.R619L(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1855-1857)cgC>cgT		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						114	110	112					7																	126173579		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173579G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1857C>T	7.37:g.126173579G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_Non-coding_Transcript	p.R619R	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	2168	-		Prostate(267;0.186)	619					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1857C>T	CCDS5794.1																																																																																				0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126173579	G	A	126173579	2	1	160	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	13449182	126173579	32965084	48	11337											
CALD1	800	broad.mit.edu	37	chr7	134618735	134618735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcaagagacaaagataaaAggggaaaaggtagaacagaa	23	3	12	3	0	0	4	0	0	0	4	0	6	0	5	0	3	2	2	0	3	9	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:134618735A>G	ENST00000361675.2	+	5	1444	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	405					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAAAGATAAAAGGGGAAAAGG	0.418																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1213-1215)aaA>aaG		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.							101	108	105					7																	134618735		2203	4300	6503	SO:0001819	synonymous_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618735A>G	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1215A>G	7.37:g.134618735A>G						CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Silent_p.K269K	p.K405K	NM_033138	NP_149129	Q05682	CALD1_HUMAN			4	1681	+			405					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	c.1215A>G	CCDS5835.1																																																																																				0.418	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		G	134618735	A	G	134618735	2	3	160	1	0	0	0	0	0	0	0	1	2581	69	3	4		4	CALD1	7	134618735	Silent	SNP	A	TCGA-19-2631-01A-01D-1353-08	8445156	134618735	24519928	49	11338											
ADAM2	2515	broad.mit.edu	37	chr8	39626970	39626970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcattaccacacactgCttgctgtttgaaaaaaggat	12	13	7	9	0	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:39626970C>A	ENST00000265708.4	-	12	1256	c.1153G>T	c.(1153-1155)Gca>Tca	p.A385S	ADAM2_ENST00000521880.1_Missense_Mutation_p.A385S|ADAM2_ENST00000347580.4_Missense_Mutation_p.A366S|ADAM2_ENST00000379853.2_Missense_Mutation_p.A259S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	385	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCACACACTGCTTGCTGTTTG	0.448																																						uc003xnj.3																			0		p.A385V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1153-1155)Gca>Tca		Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.							159	145	149					8																	39626970		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626970C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1153G>T	8.37:g.39626970C>A	ENSP00000265708:p.Ala385Ser					ADAM2_uc003xnk.3_Missense_Mutation_p.A366S|ADAM2_uc011lck.2_Missense_Mutation_p.A385S|ADAM2_uc003xnl.3_Missense_Mutation_p.A259S	p.A385S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	11	1228	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	385			Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1153G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	6.344	0.431564	0.12045	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02158	5.05;4.42;5.28;5.24	5.11	-0.477	0.12097	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.01870	0.0059	L	0.35288	1.05	0.09310	N	1	B;B;B;B	0.22480	0.001;0.07;0.012;0.003	B;B;B;B	0.22152	0.006;0.038;0.037;0.006	T	0.47911	-0.9080	8	.	.	.	.	4.6253	0.12476	0.1477:0.3335:0.4328:0.086	.	385;259;366;385	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	366;259;385;385	ENSP00000343854:A366S;ENSP00000369182:A259S;ENSP00000265708:A385S;ENSP00000429352:A385S	.	A	-	1	0	ADAM2	39746127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.467000	0.06664	-0.012000	0.14223	-0.156000	0.13503	GCA		0.448	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		A	39626970	C	A	39626970	3	1	160	1	0	0	0	0	1	0	0	0	241	797	28	5	1090	5	ADAM2	8	39626970	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		39626970	106737052	50	11339											
TMEM55A	55529	broad.mit.edu	37	chr8	92007945	92007945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gataactgactcttatggctCcccaataacaagctcggata	13	10	7	11	1	1	1	0	1	1	0	3	3	2	2	2	2	3	2	2	2	6	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:92007945C>T	ENST00000285419.3	-	7	1048	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	245						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCTTATGGCTCCCCAATAACA	0.438																																						uc003yes.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(733-735)gGa>gAa		Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.							115	110	111					8																	92007945		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92007945C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.734G>A	8.37:g.92007945C>T	ENSP00000285419:p.Gly245Glu						p.G245E	NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		6	960	-			245					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.734G>A	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715229	0.68844	.	.	ENSG00000155099	ENST00000285419	.	.	.	5.36	5.36	0.76844	.	0.049334	0.85682	D	0.000000	T	0.62454	0.2429	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62172	-0.6910	9	0.30078	T	0.28	-3.2485	19.4348	0.94786	0.0:1.0:0.0:0.0	.	245	Q8N4L2	TM55A_HUMAN	E	245	.	ENSP00000285419:G245E	G	-	2	0	TMEM55A	92077121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.663000	0.90544	0.650000	0.86243	GGA		0.438	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		T	92007945	C	T	92007945	3	4	160	1	0	0	0	0	1	0	0	0	16178	855	30	3	43	3	TMEM55A	8	92007945	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	52380975	92007945	54356077	51	11340											
TRPS1	7227	broad.mit.edu	37	chr8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaacaccggagcctctaCgcctctgaaacaggggaaaa	17	4	9	11	2	2	1	0	1	2	0	2	3	2	3	3	3	4	0	3	3	7	1	rs549374718		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:116430676C>T	ENST00000220888.5	-	5	2825	c.2666G>A	c.(2665-2667)cGt>cAt	p.R889H	TRPS1_ENST00000395715.3_Missense_Mutation_p.R902H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643H|TRPS1_ENST00000520276.1_Missense_Mutation_p.R893H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				C|||	1	0.000199681	0	0	5008	,	,		19725	0		0	False		,,,				2504	0.001					uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2704-2706)cGt>cAt		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							91	93	92					8																	116430676		1913	4124	6037	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116430676C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2666G>A	8.37:g.116430676C>T	ENSP00000220888:p.Arg889His					TRPS1_uc011lhy.2_Missense_Mutation_p.R893H|TRPS1_uc003ynz.3_Missense_Mutation_p.R889H|TRPS1_uc010mcy.3_Missense_Mutation_p.R889H	p.R902H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	3283	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		889					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2705G>A		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777453	0.70107	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99601	1.0978	10	0.72032	D	0.01	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	893;889;902	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	902;889;643;893	ENSP00000379065:R902H;ENSP00000220888:R889H;ENSP00000428910:R643H;ENSP00000428680:R893H	ENSP00000220888:R889H	R	-	2	0	TRPS1	116499852	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.899000	0.63245	2.755000	0.94549	0.650000	0.86243	CGT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116430676	C	T	116430676	3	4	160	1	0	0	0	0	1	0	0	0	16590	536	19	1	1187	1	TRPS1	8	116430676	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	24422731	116430676	29933346	52	11341											
RANBP6	26953	broad.mit.edu	37	chr9	6012502	6012502	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggaattatttggaccaaTtacaactgggtggttacttt	11	16	9	5	0	0	0	0	0	0	0	0	2	0	2	1	4	3	1	1	4	6	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:6012502T>G	ENST00000259569.5	-	1	3116	c.3106A>C	c.(3106-3108)Att>Ctt	p.I1036L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1036					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTGGACCAATTACAACTGGG	0.368																																						uc003zjr.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(3106-3108)Att>Ctt		Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.							79	79	79					9																	6012502		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012502T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3106A>C	9.37:g.6012502T>G	ENSP00000259569:p.Ile1036Leu					RANBP6_uc011lmf.2_Missense_Mutation_p.I684L|RANBP6_uc003zjs.3_3'UTR	p.I1036L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	0	3139	-		Acute lymphoblastic leukemia(23;0.158)	1036					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.3106A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	0.076	-1.192226	0.01607	.	.	ENSG00000137040	ENST00000259569	T	0.05925	3.37	4.79	0.549	0.17213	Armadillo-like helical (1);Armadillo-type fold (1);	0.063724	0.64402	N	0.000005	T	0.00967	0.0032	N	0.00075	-2.25	0.26451	N	0.975617	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46652	-0.9176	10	0.02654	T	1	-5.1597	7.2876	0.26348	0.0:0.3409:0.4169:0.2422	.	203;624;1036	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	1036	ENSP00000259569:I1036L	ENSP00000259569:I1036L	I	-	1	0	RANBP6	6002502	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	2.387000	0.44389	0.092000	0.17331	0.533000	0.62120	ATT		0.368	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		G	6012502	T	G	6012502	3	3	160	1	0	0	0	0	1	0	0	0	13031	1493	52	5	215	5	RANBP6	9	6012502	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		6012502	135200929	53	11342											
C9orf41	138199	broad.mit.edu	37	chr9	77631261	77631261	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctttctgctttcccagtTtcactccagtctctcacaaa	7	15	3	16	0	4	0	2	0	2	0	8	0	7	0	3	0	1	2	3	0	1	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:77631261T>G	ENST00000376834.3	-	3	665	c.513A>C	c.(511-513)gaA>gaC	p.E171D	RP11-197P3.5_ENST00000455336.2_RNA|C9orf41_ENST00000376837.3_Missense_Mutation_p.E171D	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTCCCAGTTTCACTCCAGT	0.353																																						uc004ajq.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(511-513)gaA>gaC		Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.							179	180	180					9																	77631261		2203	4300	6503	SO:0001583	missense	138199							g.chr9:77631261T>G	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.513A>C	9.37:g.77631261T>G	ENSP00000366030:p.Glu171Asp					C9orf41_uc011lsi.1_Non-coding_Transcript	p.E171D	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN			2	666	-			171					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.513A>C	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421820	0.25639	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.03860	3.78;3.78	5.99	2.09	0.27110	N2227-like (1);	0.092452	0.64402	D	0.000001	T	0.03434	0.0099	L	0.37561	1.115	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.43212	-0.9405	10	0.12103	T	0.63	-9.7528	4.8648	0.13602	0.126:0.2036:0.0:0.6704	.	171	Q8N4J0	CI041_HUMAN	D	171;171;110	ENSP00000366030:E171D;ENSP00000396353:E110D	ENSP00000366030:E171D	E	-	3	2	C9orf41	76821081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.547000	0.36190	0.477000	0.27464	0.533000	0.62120	GAA		0.353	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		G	77631261	T	G	77631261	3	3	160	1	0	0	0	0	1	0	0	0	2482	1838	64	5	740	5	C9orf41	9	77631261	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	71618759	77631261	63582170	54	11343											
TLE1	7088	broad.mit.edu	37	chr9	84200544	84200544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgccagccactccccGgtggggcagtaccccaggga	7	4	12	18	1	0	0	0	0	0	0	1	1	1	1	7	4	3	2	7	4	1	1	rs2229270		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:84200544G>A	ENST00000376499.3	-	18	3068	c.2004C>T	c.(2002-2004)acC>acT	p.T668T		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	668					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACTCCCCGGTGGGGCAGT	0.557																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004alz.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2032-2034)acC>acT		Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.							66	52	57					9																	84200544		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84200544G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2004C>T	9.37:g.84200544G>A						TLE1_uc004aly.3_Silent_p.T668T|TLE1_uc011lsr.2_Silent_p.T653T	p.T678T	NM_005077	NP_005068	Q04724	TLE1_HUMAN			17	2475	-			668					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.2034C>T	CCDS6661.1																																																																																				0.557	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		A	84200544	G	A	84200544	2	1	160	1	0	0	0	0	0	0	0	1	15935	1103	39	2		2	TLE1	9	84200544	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	6569283	84200544	57012887	55	11344											
FAM22F	54754	broad.mit.edu	37	chr9	97081002	97081002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagactgaagagctccctgGggtcctctccctcctgggct	5	9	13	14	0	1	3	0	1	1	2	5	4	4	3	4	4	1	2	4	4	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:97081002G>T	ENST00000253262.4	-	7	2036	c.2016C>A	c.(2014-2016)ccC>ccA	p.P672P	NUTM2F_ENST00000341207.4_Silent_p.P657P|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	672																	GAGCTCCCTGGGGTCCTCTCC	0.607																																						uc004aup.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(2014-2016)ccC>ccA		Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.							46	37	40					9																	97081002		1853	4088	5941	SO:0001819	synonymous_variant	54754							g.chr9:97081002G>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2016C>A	9.37:g.97081002G>T							p.P672P	NM_017561	NP_060031	A1L443	FA22F_HUMAN			6	2037	-		Acute lymphoblastic leukemia(62;0.136)	672					B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.2016C>A	CCDS47994.1																																																																																				0.607	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		T	97081002	G	T	97081002	2	4	160	1	0	0	0	0	0	0	0	1	5545	1219	43	5		5	FAM22F	9	97081002	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	12880458	97081002	44132429	56	11345											
FAM22G	441457	broad.mit.edu	37	chr9	99694201	99694201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggacaggatggccgcGgcccaagtggggctggggct	6	5	20	10	2	0	0	0	0	0	0	0	2	0	2	2	9	0	3	2	9	1	0	rs370086124	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:99694201G>A	ENST00000372322.3	+	2	235	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	NUTM2G_ENST00000354649.3_Missense_Mutation_p.G72S|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	72																	GGATGGCCGCGGCCCAAGTGG	0.642													.|||	4	0.000798722	0	0	5008	,	,		14915	0		0	False		,,,				2504	0.0041					uc022bkp.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17						c.(214-216)Ggc>Agc		Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.		G	SER/GLY,SER/GLY	0,3714		0,0,1857	21	27	25		214,214	0	0	9		25	2,8178		0,2,4088	no	missense,missense	FAM22G	NM_001170741.1,NM_001045477.2	56,56	0,2,5945	AA,AG,GG		0.0244,0.0,0.0168	benign,benign	72/742,72/493	99694201	2,11892	1857	4090	5947	SO:0001583	missense	441457							g.chr9:99694201G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.214G>A	9.37:g.99694201G>A	ENSP00000361397:p.Gly72Ser					FAM22G_uc004awq.2_Missense_Mutation_p.G72S	p.G72S	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN			1	235	+		Acute lymphoblastic leukemia(62;0.0527)	72					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.214G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	8.737	0.918034	0.17982	0.0	2.44E-4	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.24538	1.85;1.85	1.03	0.0308	0.14168	.	.	.	.	.	T	0.17619	0.0423	L	0.39898	1.24	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.26883	-1.0090	9	0.49607	T	0.09	.	3.5206	0.07740	0.2887:0.0:0.7113:0.0	.	72	Q5VZR2-2	.	S	72	ENSP00000346670:G72S;ENSP00000361397:G72S	ENSP00000346670:G72S	G	+	1	0	FAM22G	98734022	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.078000	0.11375	0.018000	0.15052	0.479000	0.44913	GGC		0.642	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		A	99694201	G	A	99694201	3	1	160	1	0	0	0	0	1	0	0	0	5546	1116	39	2	220	2	FAM22G	9	99694201	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2613199	99694201	41519230	57	11346											
ANKRD26	22852	broad.mit.edu	37	chr10	27324683	27324683	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatgactatgagaattcTaagtaaaacaaaggaaactt	18	11	6	6	0	2	2	1	2	1	1	2	4	2	3	0	1	2	1	0	1	7	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:27324683T>C	ENST00000376087.4	-	24	2863		c.e24-2		ANKRD26_ENST00000436985.2_Splice_Site|ANKRD26_ENST00000376070.3_Splice_Site	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGAATTCTAAGTAAAACA	0.313																																						uc009xku.1																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.e24-1		Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.							23	20	21					10																	27324683		1800	4056	5856	SO:0001630	splice_region_variant	22852					centrosome		g.chr10:27324683T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2698-2A>G	10.37:g.27324683T>C						ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc001ith.2_Splice_Site_p.N899_splice	p.N900_splice	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	2870	-			899					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP	ENST00000376087.4	37	c.2698_splice	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.288416	0.23478	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8035	0.63216	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD26	27364689	1.000000	0.71417	0.830000	0.32933	0.048000	0.14542	3.986000	0.56937	2.160000	0.67779	0.482000	0.46254	.		0.313	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		Intron	C	27324683	T	C	27324683	5	2	160	1	0	0	0	0	0	0	1	0	654	1536	53	4	2480	4	ANKRD26	10	27324683	Splice_Site	SNP	T	TCGA-19-2631-01A-01D-1353-08		27324683	108210064	58	11347											
TLL2	7093	broad.mit.edu	37	chr10	98173027	98173027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaatggttggcctgaCgccattgtcatcttgacggg	6	11	13	11	2	2	2	1	2	1	0	2	2	2	2	3	4	0	1	3	4	1	3	rs61743696		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:98173027C>T	ENST00000357947.3	-	8	1195	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	324	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTGGCCTGACGCCATTGTCA	0.522																																						uc001kml.2																			0		p.G323G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(970-972)Gtc>Atc		Homo sapiens tolloid-like 2 (TLL2), mRNA.		C	ILE/VAL	0,4406		0,0,2203	67	62	64		970	0.3	1	10	dbSNP_129	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	TLL2	NM_012465.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	324/1016	98173027	2,13004	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98173027C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.970G>A	10.37:g.98173027C>T	ENSP00000350630:p.Val324Ile					TLL2_uc009xvf.2_Missense_Mutation_p.V272I	p.V324I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	7	1211	-		Colorectal(252;0.0846)	324			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.970G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430998	0.25726	0.0	2.33E-4	ENSG00000095587	ENST00000357947	T	0.63096	-0.02	5.28	0.281	0.15687	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.170979	0.27289	N	0.020045	T	0.39226	0.1070	N	0.17474	0.49	0.41153	D	0.986044	B	0.02656	0.0	B	0.04013	0.001	T	0.15983	-1.0418	10	0.10636	T	0.68	.	11.5928	0.50955	0.0:0.8109:0.0:0.1891	.	324	Q9Y6L7	TLL2_HUMAN	I	324	ENSP00000350630:V324I	ENSP00000350630:V324I	V	-	1	0	TLL2	98163017	0.133000	0.22466	0.977000	0.42913	0.992000	0.81027	0.755000	0.26405	-0.211000	0.10124	0.455000	0.32223	GTC		0.522	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			T	98173027	C	T	98173027	3	4	160	1	0	0	0	0	1	0	0	0	15943	536	19	1	2133	1	TLL2	10	98173027	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	70848344	98173027	37361720	59	11348											
LOC729020	729020	broad.mit.edu	37	chr10	105005929	105005929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggtagaaagccttcgaaAgcagctaggccaggaccctt	11	8	12	10	1	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:105005929A>G	ENST00000441178.2	+	1	286	c.176A>G	c.(175-177)aAg>aGg	p.K59R		NM_001143909.1	NP_001137381.1																					AGCCTTCGAAAGCAGCTAGGC	0.498																																						uc009xxi.2																			0											c.(175-177)aAg>aGg		Homo sapiens rcRPE (LOC729020), mRNA.							155	128	136					10																	105005929		692	1591	2283	SO:0001583	missense	729020				carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity	g.chr10:105005929A>G																												ENST00000441178.2:c.176A>G	10.37:g.105005929A>G	ENSP00000476672:p.Lys59Arg					BC040734_uc001kwr.3_Intron	p.K59R	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN			0	286	+			59						Missense_Mutation	SNP	ENST00000441178.2	37	c.176A>G																																																																																					0.498	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050120.2			G	105005929	A	G	105005929	3	3	160	1	0	0	0	0	1	0	0	0	8888	72	3	4	178	4	LOC729020	10	105005929	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	6832902	105005929	30528818	60	11349											
INS	3630	broad.mit.edu	37	chr11	2181187	2181187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagggccaagggctgcagGctgcctgcaccagggccccc	6	4	14	17	0	0	0	0	0	0	0	1	0	1	0	6	4	3	4	6	4	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:2181187G>C	ENST00000397262.1	-	2	460	c.228C>G	c.(226-228)agC>agG	p.S76R	INS_ENST00000381330.4_Missense_Mutation_p.S76R|INS-IGF2_ENST00000481781.1_5'Flank|INS-IGF2_ENST00000397270.1_Intron|INS_ENST00000250971.3_Missense_Mutation_p.S76R|INS_ENST00000512523.1_Missense_Mutation_p.S64R	NM_001185098.1	NP_001172027.1	P01308	INS_HUMAN	insulin	76					activation of protein kinase B activity (GO:0032148)|acute-phase response (GO:0006953)|alpha-beta T cell activation (GO:0046631)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of fatty acid metabolic process (GO:0045922)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of glycogen catabolic process (GO:0045818)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of protein secretion (GO:0050709)|negative regulation of proteolysis (GO:0045861)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|negative regulation of vasodilation (GO:0045908)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of respiratory burst (GO:0060267)|positive regulation of vasodilation (GO:0045909)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of insulin secretion (GO:0050796)|regulation of protein localization (GO:0032880)|regulation of protein secretion (GO:0050708)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transmembrane transporter activity (GO:0022898)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	endoplasmic reticulum lumen (GO:0005788)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)|identical protein binding (GO:0042802)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protease binding (GO:0002020)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		AGGGCTGCAGGCTGCCTGCAC	0.662																																						uc021qcd.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(226-228)agC>agG		Homo sapiens insulin (INS), transcript variant 3, mRNA.							34	30	32					11																	2181187		2177	4282	6459	SO:0001583	missense	3630				glucose metabolic process	extracellular region	hormone activity	g.chr11:2181187G>C	X70508	CCDS7729.1	11p15.5	2014-02-03			ENSG00000254647	ENSG00000254647			6081	protein-coding gene	gene with protein product		176730	"insulin-dependent diabetes mellitus 2"	IDDM2, IDDM1		6243748, 7773291	Standard	NM_000207		Approved			P01308	OTTHUMG00000009558	ENST00000397262.1:c.228C>G	11.37:g.2181187G>C	ENSP00000380432:p.Ser76Arg					IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Missense_Mutation_p.S76R|INS-IGF2_uc001lvn.2_Missense_Mutation_p.S76R|INS-IGF2_uc009ydg.1_Missense_Mutation_p.S64R	p.S76R	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	1	466	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	0					Q5EEX2	Missense_Mutation	SNP	ENST00000397262.1	37	c.228C>G	CCDS7729.1	.	.	.	.	.	.	.	.	.	.	G	7.787	0.710663	0.15239	.	.	ENSG00000254647	ENST00000397262;ENST00000250971;ENST00000381330;ENST00000512523	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	3.21	2.24	0.28232	Insulin-like (4);	.	.	.	.	T	0.81754	0.4889	L	0.34521	1.04	0.20926	N	0.999821	P;B	0.36282	0.546;0.004	B;B	0.36608	0.229;0.007	T	0.69587	-0.5105	9	0.37606	T	0.19	.	7.9063	0.29763	0.0:0.0:0.7529:0.247	.	64;76	A6XGL2;P01308	.;INS_HUMAN	R	76;76;76;64	ENSP00000380432:S76R;ENSP00000250971:S76R;ENSP00000370731:S76R;ENSP00000424008:S64R	ENSP00000250971:S76R	S	-	3	2	INS	2137763	0.805000	0.28982	0.015000	0.15790	0.049000	0.14656	1.586000	0.36611	0.604000	0.29930	0.462000	0.41574	AGC		0.662	INS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026395.3	NM_000207		C	2181187	G	C	2181187	3	2	160	1	0	0	0	0	1	0	0	0	7762	1194	42	5	108	5	INS	11	2181187	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		2181187	132825329	61	11350											
CCKBR	887	broad.mit.edu	37	chr11	6291993	6291993	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgacggcgacagtgacagCgacagccaaagcagggtccg	11	5	14	11	4	0	2	0	2	0	0	1	4	1	2	2	2	3	1	2	2	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:6291993C>T	ENST00000334619.2	+	4	964	c.771C>T	c.(769-771)agC>agT	p.S257S	CCKBR_ENST00000525462.1_Silent_p.S257S|CCKBR_ENST00000532715.1_Silent_p.S173S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	257					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACAGTGACAGCGACAGCCAAA	0.622																																						uc001mcp.3																			0		p.D256N(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(769-771)agC>agT		Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	Pentagastrin(DB00183)						81	68	72					11																	6291993		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291993C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.771C>T	11.37:g.6291993C>T						CCKBR_uc001mcq.3_Silent_p.S185S|CCKBR_uc001mcr.3_Silent_p.S257S|CCKBR_uc001mcs.3_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	p.S257S	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	1026	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	257					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.771C>T	CCDS7761.1																																																																																				0.622	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		T	6291993	C	T	6291993	2	4	160	1	0	0	0	0	0	0	0	1	2881	767	27	1		1	CCKBR	11	6291993	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	4110806	6291993	128714523	62	11351											
RAG1	5896	broad.mit.edu	37	chr11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagagctacttcctggcCggacctcattgccaaggttt	10	10	10	11	1	1	1	1	0	0	1	2	3	2	2	4	3	3	2	4	3	3	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:36595309C>T	ENST00000299440.5	+	2	567	c.455C>T	c.(454-456)cCg>cTg	p.P152L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	152	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(454-456)cCg>cTg		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							77	73	74					11																	36595309		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595309C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.455C>T	11.37:g.36595309C>T	ENSP00000299440:p.Pro152Leu					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P152L	p.P152L	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	455	+	all_lung(20;0.226)	all_hematologic(20;0.107)	152			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.455C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798720	0.90538	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73469	-0.75;-0.75	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:1.0:0.0:0.0	.	152	P15918	RAG1_HUMAN	L	152	ENSP00000434610:P152L;ENSP00000299440:P152L	ENSP00000299440:P152L	P	+	2	0	RAG1	36551885	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCG		0.507	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		T	36595309	C	T	36595309	3	4	160	1	0	0	0	0	1	0	0	0	13003	652	23	2	457	2	RAG1	11	36595309	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	30303316	36595309	98411207	63	11352											
ACCSL	390110	broad.mit.edu	37	chr11	44077630	44077630	+	Frame_Shift_Del	DEL	A	A	-																															cccatgtgatctggggtaccAgtaaggtgagccattgcttt																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:44077630delA	ENST00000378832.1	+	10	1236	c.1180delA	c.(1180-1182)agtfs	p.S394fs		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	394					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTGGGGTACCAGTAAGGTGAG	0.443																																						uc001mxw.1																			0		p.T393S(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1180-1182)agtfs		Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.							147	138	141					11																	44077630		1921	4129	6050	SO:0001589	frameshift_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44077630delA		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1180delA	11.37:g.44077630delA	ENSP00000368109:p.Ser394fs					ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	p.S394fs	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			9	1236	+			394						Frame_Shift_Del	DEL	ENST00000378832.1	37	c.1180delA	CCDS41636.1																																																																																				0.443	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		-	44077630	A	-	44077630	7	5	160	1	0	1	0	1	0	0	0	0	134	188	7	0	1218	0	ACCSL	11	44077630	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	7482321	44077630	90928886	64	11353											
CREB3L1	90993	broad.mit.edu	37	chr11	46341859	46341859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgacggggcaggcttaTgggaagatggccgcagcacc	10	5	16	10	3	0	2	0	1	0	1	0	4	0	3	2	5	1	4	2	5	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:46341859T>C	ENST00000529193.1	+	11	1754	c.1303T>C	c.(1303-1305)Tgg>Cgg	p.W435R	CREB3L1_ENST00000288400.3_Missense_Mutation_p.W435R			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	435					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCAGGCTTATGGGAAGATGG	0.652			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	uc021qil.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1303-1305)Tgg>Cgg		Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.							33	35	34					11																	46341859		1962	4143	6105	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46341859T>C		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1303T>C	11.37:g.46341859T>C	ENSP00000434939:p.Trp435Arg					CREB3L1_uc021qik.1_Missense_Mutation_p.W435R|CREB3L1_uc001ncg.3_Missense_Mutation_p.W69R	p.W435R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	10	1738	+			435					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.1303T>C	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.465009	0.26335	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63255	-0.03;-0.03	4.93	3.8	0.43715	.	1.011060	0.07959	N	0.982062	T	0.50086	0.1595	N	0.22421	0.69	0.24931	N	0.991915	P;B	0.52170	0.951;0.261	P;B	0.46362	0.514;0.094	T	0.25082	-1.0142	10	0.17369	T	0.5	-14.4676	7.7497	0.28890	0.0:0.1361:0.0:0.8639	.	347;435	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	R	435;435;347	ENSP00000434939:W435R;ENSP00000288400:W435R	ENSP00000288400:W435R	W	+	1	0	CREB3L1	46298435	0.979000	0.34478	0.894000	0.35097	0.939000	0.58152	2.138000	0.42140	1.864000	0.54056	0.352000	0.21897	TGG		0.652	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		C	46341859	T	C	46341859	3	2	160	1	0	0	0	0	1	0	0	0	3856	1464	51	4	1345	4	CREB3L1	11	46341859	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	2264229	46341859	88664657	65	11354											
OR5A1	219982	broad.mit.edu	37	chr11	59211096	59211096	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcatggtggttggggcatAtgttggtggcttcctgagct	5	13	16	7	1	0	1	0	1	0	0	1	1	1	1	1	6	1	6	1	6	1	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:59211096A>T	ENST00000302030.2	+	1	480	c.455A>T	c.(454-456)tAt>tTt	p.Y152F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGGGCATATGTTGGTGGC	0.547																																						uc001nnx.1																			0		p.A151S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(454-456)tAt>tTt		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							265	248	253					11																	59211096		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211096A>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.455A>T	11.37:g.59211096A>T	ENSP00000303096:p.Tyr152Phe						p.Y152F	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	455	+			152					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.455A>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	A	4.006	-0.001578	0.07819	.	.	ENSG00000172320	ENST00000302030	T	0.37411	1.2	5.98	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.137460	0.33496	N	0.004848	T	0.34424	0.0897	M	0.66560	2.04	0.09310	N	1	B	0.19817	0.039	B	0.31614	0.133	T	0.34900	-0.9810	10	0.46703	T	0.11	-22.3453	3.4402	0.07461	0.5794:0.0:0.1551:0.2654	.	152	Q8NGJ0	OR5A1_HUMAN	F	152	ENSP00000303096:Y152F	ENSP00000303096:Y152F	Y	+	2	0	OR5A1	58967672	0.000000	0.05858	0.010000	0.14722	0.075000	0.17131	-0.286000	0.08399	1.083000	0.41159	-0.274000	0.10170	TAT		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211096	A	T	59211096	3	4	160	1	0	0	0	0	1	0	0	0	11139	449	16	5	457	5	OR5A1	11	59211096	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	12869237	59211096	75795420	66	11355											
CABP4	57010	broad.mit.edu	37	chr11	67225877	67225877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggacgaattacggtggcGgagctgcgggaggcggtacc	8	6	19	8	5	0	0	0	0	0	0	0	5	0	3	1	7	4	2	1	7	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:67225877G>A	ENST00000325656.5	+	5	764	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CTC-1337H24.1_ENST00000602912.1_lincRNA|CABP4_ENST00000438189.2_Silent_p.A124A	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	229	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.652																																						uc001olo.3																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(685-687)gcG>gcA		Homo sapiens calcium binding protein 4 (CABP4), mRNA.							62	65	64					11																	67225877		2200	4295	6495	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67225877G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.687G>A	11.37:g.67225877G>A						CABP4_uc001oln.3_Silent_p.A124A	p.A229A	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		4	764	+			229			EF-hand 3.		Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.687G>A	CCDS8166.1																																																																																				0.652	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			A	67225877	G	A	67225877	2	1	160	1	0	0	0	0	0	0	0	1	2533	1103	39	2		2	CABP4	11	67225877	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	8014781	67225877	67780639	67	11356											
APOBEC1	339	broad.mit.edu	37	chr12	7803627	7803627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgacttactagaattaTgcagtgcagctccagtgcgt	12	11	10	8	1	0	2	0	1	0	1	1	2	1	2	1	0	5	3	1	0	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:7803627T>C	ENST00000229304.4	-	4	573	c.553A>G	c.(553-555)Ata>Gta	p.I185V		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	185	Leu-rich.				cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTAGAATTATGCAGTGCAGC	0.433																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.3																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(553-555)Ata>Gta		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.							154	142	146					12																	7803627		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803627T>C	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.553A>G	12.37:g.7803627T>C	ENSP00000229304:p.Ile185Val					APOBEC1_uc001qtc.3_Missense_Mutation_p.I140V	p.I185V	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	587	-			185			Leu-rich.		Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.553A>G	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758463	0.49468	.	.	ENSG00000111701	ENST00000229304	T	0.64618	-0.11	4.9	4.9	0.64082	.	0.113561	0.39020	N	0.001490	T	0.77260	0.4104	M	0.78223	2.4	0.25225	N	0.989879	D	0.69078	0.997	D	0.80764	0.994	T	0.70193	-0.4939	10	0.62326	D	0.03	-24.4458	11.2091	0.48786	0.0:0.0:0.0:1.0	.	185	P41238	ABEC1_HUMAN	V	185	ENSP00000229304:I185V	ENSP00000229304:I185V	I	-	1	0	APOBEC1	7694894	0.998000	0.40836	0.999000	0.59377	0.443000	0.32047	3.367000	0.52350	1.960000	0.56953	0.533000	0.62120	ATA		0.433	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		C	7803627	T	C	7803627	3	2	160	1	0	0	0	0	1	0	0	0	787	1464	51	4	165	4	APOBEC1	12	7803627	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		7803627	126048268	68	11357											
PRB1	5542	broad.mit.edu	37	chr12	11506566	11506566	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggtggtccttgtggCtttcctggaggagatcaggg	4	12	19	6	0	1	1	1	0	0	1	3	3	3	2	2	7	0	1	2	7	0	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:11506566C>T	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597																																						uc001qzw.1																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(466-468)aaG>aaA		Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.							13	8	10					12																	11506566		1174	1923	3097	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506566C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+157G>A	12.37:g.11506566C>T						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.K156K	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	505	-			157		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.468G>A	CCDS8642.1																																																																																				0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		T	11506566	C	T	11506566	1	4	160	0	1	0	0	0	0	0	0	0	12442	796	28	3		3	PRB1	12	11506566	Intron	SNP	C	TCGA-19-2631-01A-01D-1353-08	3702939	11506566	122345329	69	11358											
KRT75	9119	broad.mit.edu	37	chr12	52828035	52828035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgatggccgaggtggtGctgaagcccctgcggctgcc	4	7	19	11	2	0	2	0	2	0	0	0	3	0	2	4	6	4	2	4	6	1	0	rs140932366		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:52828035G>A	ENST00000252245.5	-	1	274	c.54C>T	c.(52-54)agC>agT	p.S18S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	18	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCGAGGTGGTGCTGAAGCCCC	0.672																																						uc001saj.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(52-54)agC>agT		Homo sapiens keratin 75 (KRT75), mRNA.							17	22	20					12																	52828035		2150	4234	6384	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52828035G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.54C>T	12.37:g.52828035G>A							p.S18S	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	0	76	-			18			Head.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.54C>T	CCDS8827.1																																																																																				0.672	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		A	52828035	G	A	52828035	2	1	160	1	0	0	0	0	0	0	0	1	8488	1310	46	3		3	KRT75	12	52828035	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	41321469	52828035	81023860	70	11359											
OR6C68	403284	broad.mit.edu	37	chr12	55886262	55886262	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctatttatcacctacaTgttgagtgtaacagggaaac	12	14	8	7	0	2	1	1	1	1	0	2	2	2	2	1	1	3	3	1	1	5	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:55886262T>A	ENST00000548615.1	+	1	101	c.101T>A	c.(100-102)aTg>aAg	p.M34K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.M39K|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATCACCTACATGTTGAGTGTA	0.398																																						uc010spo.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(115-117)aTg>aAg		Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.							180	166	170					12																	55886262		2203	4300	6503	SO:0001583	missense	403284				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55886262T>A		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.101T>A	12.37:g.55886262T>A	ENSP00000448811:p.Met34Lys						p.M39K	NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN			0	116	+			34						Missense_Mutation	SNP	ENST00000548615.1	37	c.116T>A	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897664	0.52121	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.03065	4.06;4.06	4.77	1.01	0.19927	.	1.264820	0.05610	N	0.578037	T	0.06781	0.0173	M	0.76574	2.34	0.09310	N	1	B	0.32051	0.354	B	0.31191	0.125	T	0.38628	-0.9652	10	0.87932	D	0	.	5.13	0.14905	0.1337:0.1514:0.0:0.7148	.	34	A6NDL8	O6C68_HUMAN	K	39;34	ENSP00000368983:M39K;ENSP00000448811:M34K	ENSP00000368983:M39K	M	+	2	0	OR6C68	54172529	0.012000	0.17670	0.182000	0.23118	0.368000	0.29767	1.944000	0.40263	0.080000	0.16959	0.487000	0.48397	ATG		0.398	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1			A	55886262	T	A	55886262	3	1	160	1	0	0	0	0	1	0	0	0	11196	1464	51	5	118	5	OR6C68	12	55886262	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	3058227	55886262	77965633	71	11360											
FAM19A2	338811	broad.mit.edu	37	chr12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatgatggagcagctcGcgtggtgcctgccacctgcc	7	7	12	15	2	0	1	0	1	0	0	1	2	0	2	4	2	5	2	4	2	0	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:62148677G>A	ENST00000416284.3	-	3	1819	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.R79*|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502																																						uc001sqw.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(235-237)Cga>Tga		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.							172	117	136					12																	62148677		2203	4300	6503	SO:0001587	stop_gained	338811					cytoplasm		g.chr12:62148677G>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.235C>T	12.37:g.62148677G>A	ENSP00000393987:p.Arg79*					FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.3_Non-coding_Transcript	p.R79*	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	2	1817	-			79					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Nonsense_Mutation	SNP	ENST00000416284.3	37	c.235C>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462806	0.63513	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	4.3	0.51218	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8801	0.58012	0.0:0.0:0.7043:0.2957	.	.	.	.	X	79;79;80;86;80	.	.	R	-	1	2	FAM19A2	60434944	0.713000	0.27926	0.819000	0.32651	0.502000	0.33828	0.937000	0.28951	1.172000	0.42781	0.558000	0.71614	CGA		0.502	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		A	62148677	G	A	62148677	4	1	160	1	0	0	0	0	0	1	0	0	5532	1095	38	1	172	1	FAM19A2	12	62148677	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6262415	62148677	71703218	72	11361											
GRIP1	23426	broad.mit.edu	37	chr12	66800092	66800092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctttgcggattttgAgcttcaccaggtcttcacat	7	16	7	11	1	5	1	3	1	2	0	5	2	5	2	1	2	2	1	1	2	0	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:66800092A>G	ENST00000398016.3	-	15	1867	c.1799T>C	c.(1798-1800)cTc>cCc	p.L600P	GRIP1_ENST00000359742.4_Missense_Mutation_p.L652P|GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000286445.7_Missense_Mutation_p.L652P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGATTTTGAGCTTCACCAG	0.413																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1798-1800)cTc>cCc		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							138	127	131					12																	66800092		1896	4115	6011	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66800092A>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1799T>C	12.37:g.66800092A>G	ENSP00000381098:p.Leu600Pro					GRIP1_uc010sta.1_Missense_Mutation_p.L544P|GRIP1_uc001stj.3_Missense_Mutation_p.L382P|GRIP1_uc001stm.3_Missense_Mutation_p.L600P|GRIP1_uc001stl.1_Missense_Mutation_p.L492P	p.L600P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	14	2040	-			652			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1799T>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.400111|4.400111	0.83120|0.83120	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31;0.31;0.31|.	5.38|5.38	5.38|5.38	0.77491|0.77491	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88614|0.88614	0.6484|0.6484	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.92840|0.92840	0.6288|0.6288	9|5	.|.	.|.	.|.	-14.0119|-14.0119	15.6925|15.6925	0.77466|0.77466	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600;652;600;652|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	P|P	600;652;652;600;544;492|467	ENSP00000381098:L600P;ENSP00000352780:L652P;ENSP00000286445:L652P;ENSP00000446047:L600P;ENSP00000446024:L544P;ENSP00000446011:L492P|.	.|.	L|S	-|-	2|1	0|0	GRIP1|GRIP1	65086359|65086359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.166000|2.166000	0.68216|0.68216	0.402000|0.402000	0.26972|0.26972	CTC|TCA		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			G	66800092	A	G	66800092	3	3	160	1	0	0	0	0	1	0	0	0	6787	304	11	4	1471	4	GRIP1	12	66800092	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	4651415	66800092	67051803	73	11362											
MED13L	23389	broad.mit.edu	37	chr12	116446291	116446291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggcctgaactcagcatCatcactgggtgggagacgat	10	8	14	9	1	3	2	3	1	0	1	3	5	3	3	1	4	2	1	1	4	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:116446291C>G	ENST00000281928.3	-	10	2133	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	643						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACTCAGCATCATCACTGGGT	0.517																																						uc001tvw.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1927-1929)Gat>Cat		Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.							80	66	71					12																	116446291		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446291C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1927G>C	12.37:g.116446291C>G	ENSP00000281928:p.Asp643His						p.D643H	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	9	1982	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		643					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1927G>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301605	0.40694	.	.	ENSG00000123066	ENST00000281928	T	0.76060	-0.99	5.7	5.7	0.88788	.	0.157869	0.64402	D	0.000011	T	0.64605	0.2613	L	0.29908	0.895	0.42723	D	0.993685	P	0.44578	0.838	B	0.42422	0.387	T	0.68864	-0.5296	10	0.66056	D	0.02	.	10.2853	0.43564	0.0:0.854:0.0:0.146	.	643	Q71F56	MD13L_HUMAN	H	643	ENSP00000281928:D643H	ENSP00000281928:D643H	D	-	1	0	MED13L	114930674	0.966000	0.33281	0.999000	0.59377	0.992000	0.81027	2.166000	0.42406	2.703000	0.92315	0.655000	0.94253	GAT		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			G	116446291	C	G	116446291	3	3	160	1	0	0	0	0	1	0	0	0	9431	826	29	5	4793	5	MED13L	12	116446291	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49646199	116446291	17405604	74	11363											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687854	123687854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctcaggtaactgcttGttttccctttgttttttata	5	22	5	9	0	1	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	3	10			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:123687854G>A	ENST00000606320.1	-	9	1469	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	MPHOSPH9_ENST00000541076.2_Silent_p.N391N|MPHOSPH9_ENST00000392425.3_Silent_p.N269N|MPHOSPH9_ENST00000302349.5_Silent_p.N269N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	421						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTAACTGCTTGTTTTCCCTTT	0.373																																						uc001uel.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(805-807)aaC>aaT		Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.							199	206	204					12																	123687854		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687854G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1263C>T	12.37:g.123687854G>A						MPHOSPH9_uc010tal.2_5'UTR|MPHOSPH9_uc010tam.2_Intron|MPHOSPH9_uc001uem.3_5'UTR	p.N269N	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	4	915	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		269					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.807C>T		.	.	.	.	.	.	.	.	.	.	G	7.917	0.737695	0.15574	.	.	ENSG00000257076	ENST00000539336	.	.	.	6.16	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.907	12.4149	0.55488	0.0674:0.2238:0.7088:0.0	.	.	.	.	X	279	.	.	Q	-	1	0	RP11-546D6.2	122253807	0.982000	0.34865	0.994000	0.49952	0.996000	0.88848	1.102000	0.31050	0.878000	0.35920	0.650000	0.86243	CAA		0.373	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			A	123687854	G	A	123687854	2	1	160	1	0	0	0	0	0	0	0	1	9728	1368	48	3		3	MPHOSPH9	12	123687854	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	7241563	123687854	10164041	75	11364											
TGM1	7051	broad.mit.edu	37	chr14	24730965	24730965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggacaggaggaggagcatAtggaaaggctgcccgcggcg	10	3	19	9	4	0	0	0	0	0	0	0	5	0	5	1	7	2	2	1	7	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:24730965A>G	ENST00000206765.6	-	3	567	c.444T>C	c.(442-444)caT>caC	p.H148H	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	148					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGGAGCATATGGAAAGGCT	0.592																																						uc001wod.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(442-444)caT>caC		Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	L-Glutamine(DB00130)						132	117	122					14																	24730965		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24730965A>G	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.444T>C	14.37:g.24730965A>G						TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	p.H148H	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	568	-			148					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.444T>C	CCDS9622.1																																																																																				0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		G	24730965	A	G	24730965	2	3	160	1	0	0	0	0	0	0	0	1	15826	446	16	4		4	TGM1	14	24730965	Silent	SNP	A	TCGA-19-2631-01A-01D-1353-08		24730965	82618575	76	11365											
SRP54	6729	broad.mit.edu	37	chr14	35465958	35465958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaataacatcagcattaCgctcgttgagcaatgccacc	15	8	7	11	2	1	1	1	1	0	0	2	2	1	1	2	0	5	4	2	0	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:35465958C>T	ENST00000556994.1	+	3	440	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000546080.1_5'UTR|SRP54_ENST00000216774.6_Missense_Mutation_p.R15C|SRP54_ENST00000555557.1_5'UTR			P61011	SRP54_HUMAN	signal recognition particle 54kDa	15	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATCAGCATTACGCTCGTTGAG	0.343																																						uc001wso.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(43-45)Cgc>Tgc		Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.							116	122	120					14																	35465958		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35465958C>T	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.43C>T	14.37:g.35465958C>T	ENSP00000451818:p.Arg15Cys					SRP54_uc010tpp.2_5'UTR|SRP54_uc010tpq.2_Intron	p.R15C	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	1	394	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		15			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.43C>T	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285728	0.59867	.	.	ENSG00000100883	ENST00000556994;ENST00000554803;ENST00000555746;ENST00000216774	.	.	.	6.17	5.29	0.74685	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	P	0.61477	0.889	D	0.87676	0.2544	9	0.72032	D	0.01	-3.3307	15.0983	0.72253	0.0:0.9322:0.0:0.0678	.	15	P61011	SRP54_HUMAN	C	15	.	ENSP00000216774:R15C	R	+	1	0	SRP54	34535709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.198000	0.58419	1.633000	0.50488	0.655000	0.94253	CGC		0.343	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		T	35465958	C	T	35465958	3	4	160	1	0	0	0	0	1	0	0	0	15154	536	19	1	45	1	SRP54	14	35465958	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	10734993	35465958	71883582	77	11366											
C14orf37	145407	broad.mit.edu	37	chr14	58471770	58471770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttggttccatacctttCttttatgccttttgaagcca	6	19	7	9	0	1	1	0	1	1	0	2	1	2	1	4	1	3	3	4	1	3	9			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:58471770C>G	ENST00000267485.7	-	7	2446	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	751						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCATACCTTTCTTTTATGCCT	0.413																																						uc010tro.2																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(2365-2367)aGa>aCa		Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.							163	147	153					14																	58471770		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58471770C>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2252G>C	14.37:g.58471770C>G	ENSP00000267485:p.Arg751Thr					C14orf37_uc001xdc.3_Missense_Mutation_p.R751T|C14orf37_uc001xdd.3_Missense_Mutation_p.R751T	p.R789T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			7	2564	-			751					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.2366G>C	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924943	0.73213	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.47177	0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.58101	1.795	0.46149	D	0.998895	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67787	-0.5580	10	0.87932	D	0	-14.815	19.3848	0.94553	0.0:1.0:0.0:0.0	.	789;751;751	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	T	751;789	ENSP00000267485:R751T	ENSP00000267485:R751T	R	-	2	0	C14orf37	57541523	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.050000	0.64251	2.829000	0.97493	0.655000	0.94253	AGA		0.413	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		G	58471770	C	G	58471770	3	3	160	1	0	0	0	0	1	0	0	0	1771	913	32	5	80	5	C14orf37	14	58471770	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	23005812	58471770	48877770	78	11367											
GABRB3	2562	broad.mit.edu	37	chr15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccttgtccccgcctcGccagtaaaactcaatgtcat	11	9	6	15	2	2	0	2	0	0	0	4	0	3	0	5	0	3	1	5	0	4	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:26825568G>A	ENST00000311550.5	-	6	691	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GABRB3_ENST00000541819.2_Nonsense_Mutation_p.R250*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.R194*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.R123*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.R109*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	194					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCCCGCCTCGCCAGTAAAAC	0.517																																						uc001zbb.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(748-750)Cga>Tga		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						103	87	92					15																	26825568		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825568G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.580C>T	15.37:g.26825568G>A	ENSP00000308725:p.Arg194*					GABRB3_uc021sgg.1_Nonsense_Mutation_p.R123*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.R194*|GABRB3_uc001zba.3_Nonsense_Mutation_p.R194*	p.R250*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	851	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	194					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.748C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	37	6.181066	0.97352	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	.	.	.	5.12	3.05	0.35203	.	0.170915	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	13.6494	0.62301	0.0:0.0:0.6481:0.3519	.	.	.	.	X	194;250;194;123;109;109	.	ENSP00000299267:R194X	R	-	1	2	GABRB3	24376661	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.907000	0.39897	1.220000	0.43490	0.561000	0.74099	CGA		0.517	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			A	26825568	G	A	26825568	4	1	160	1	0	0	0	0	0	1	0	0	6168	1095	38	1	857	1	GABRB3	15	26825568	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		26825568	75705824	79	11368											
PCSK6	5046	broad.mit.edu	37	chr15	101924538	101924538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcacctttatgacccGcgccgttcactttccagtcg	5	11	8	17	5	1	1	1	1	0	0	3	1	2	1	5	0	1	2	5	0	1	4	rs376876626		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:101924538G>A	ENST00000348070.1	-	11	1399	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	PCSK6_ENST00000398181.2_Missense_Mutation_p.A467V|PCSK6_ENST00000358417.3_Missense_Mutation_p.A467V|PCSK6_ENST00000331826.7_Missense_Mutation_p.A302V|PCSK6_ENST00000344273.2_Missense_Mutation_p.A467V|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	468	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATGACCCGCGCCGTTCAC	0.567																																						uc002bxa.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1399-1401)gCg>gTg		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,3977		0,1,1988	47	48	47		1401,1401,1401,1401,1401,1401,1401,1401	6.1	0.2	15		47	0,8316		0,0,4158	no	missense,missense,missense,missense,missense,missense,missense,missense	PCSK6	NM_002570.3,NM_138319.2,NM_138320.1,NM_138321.1,NM_138322.2,NM_138323.1,NM_138324.1,NM_138325.2	64,64,64,64,64,64,64,64	0,1,6146	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	468/970,468/957,468/976,468/963,468/488,468/624,468/653,468/665	101924538	1,12293	1989	4158	6147	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101924538G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1400C>T	15.37:g.101924538G>A	ENSP00000305056:p.Ala467Val					PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Missense_Mutation_p.A467V|PCSK6_uc010bpe.3_Missense_Mutation_p.A464V|PCSK6_uc002bxb.2_Missense_Mutation_p.A467V|PCSK6_uc002bxc.1_Missense_Mutation_p.A467V|PCSK6_uc002bxd.1_Missense_Mutation_p.A467V|PCSK6_uc002bxe.3_Missense_Mutation_p.A467V|PCSK6_uc002bxg.1_Missense_Mutation_p.A467V	p.A467V	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1714	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		468					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1400C>T		.	.	.	.	.	.	.	.	.	.	G	12.85	2.061195	0.36373	2.51E-4	0.0	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	6.08	6.08	0.98989	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	N	0.13043	0.29	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.71674	0.998;0.995;0.983;0.961;0.986;0.99;0.994;0.995	D;P;P;P;P;P;P;D	0.65140	0.925;0.692;0.66;0.771;0.771;0.65;0.566;0.932	T	0.71144	-0.4678	10	0.02654	T	1	-21.5723	19.6516	0.95815	0.0:0.0:1.0:0.0	.	468;467;468;467;467;468;468;467	P29122;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.	V	467;467;467;467;302	ENSP00000305056:A467V;ENSP00000351193:A467V;ENSP00000344410:A467V;ENSP00000381243:A467V;ENSP00000332052:A302V	ENSP00000332052:A302V	A	-	2	0	PCSK6	99742061	1.000000	0.71417	0.234000	0.24042	0.260000	0.26232	3.793000	0.55484	2.894000	0.99253	0.655000	0.94253	GCG		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		A	101924538	G	A	101924538	3	1	160	1	0	0	0	0	1	0	0	0	11604	1087	38	1	2037	1	PCSK6	15	101924538	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	75098970	101924538	606854	80	11369											
GLYR1	84656	broad.mit.edu	37	chr16	4863830	4863830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcagcacaccactggggcCcagcaccagctgtggggaca	9	5	13	14	0	0	0	0	0	0	0	0	1	0	1	3	4	4	4	3	4	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:4863830C>T	ENST00000321919.9	-	12	1103	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	GLYR1_ENST00000436648.5_Missense_Mutation_p.G262S|GLYR1_ENST00000381983.3_Missense_Mutation_p.G326S|GLYR1_ENST00000591451.1_Missense_Mutation_p.G337S	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	343					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCACTGGGGCCCAGCACCAGC	0.612																																						uc002cxx.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1027-1029)Ggc>Agc		Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.							54	43	46					16																	4863830		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4863830C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1027G>A	16.37:g.4863830C>T	ENSP00000322716:p.Gly343Ser					GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	p.G343S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			11	1064	-			343					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.1027G>A	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828849	0.96996	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.72835	-0.38;-0.37;-0.69	5.37	5.37	0.77165	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.77103	2.36	0.80722	D	1	P;D;P;D	0.89917	0.764;0.97;0.764;1.0	P;D;P;D	0.97110	0.759;0.91;0.581;1.0	D	0.86369	0.1722	10	0.87932	D	0	-19.1931	18.2373	0.89954	0.0:1.0:0.0:0.0	.	262;337;326;343	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	S	343;326;262	ENSP00000322716:G343S;ENSP00000371413:G326S;ENSP00000390276:G262S	ENSP00000322716:G343S	G	-	1	0	GLYR1	4803831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.667000	0.90743	0.655000	0.94253	GGC		0.612	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		T	4863830	C	T	4863830	3	4	160	1	0	0	0	0	1	0	0	0	6483	623	22	3	654	3	GLYR1	16	4863830	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		4863830	85490923	81	11370											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524533	10524533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaagccaaaaagacaatgcCcctaagttgccggaagcaag	18	4	9	10	1	0	1	0	0	0	1	0	2	0	2	4	1	4	2	4	1	8	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:10524533C>T	ENST00000396560.2	+	3	283	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.P19L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P19L|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.P19L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AAGACAATGCCCCTAAGTTGC	0.383																																						uc002czw.3																			0				large_intestine(3)	3						c.(55-57)cCc>cTc		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.							78	75	76					16																	10524533		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524533C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.56C>T	16.37:g.10524533C>T	ENSP00000379808:p.Pro19Leu					ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.P19L|ATF7IP2_uc002czv.3_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.P19L	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			1	215	+			19					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.56C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306373	0.60305	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.60424	0.19;0.19	5.25	4.29	0.51040	.	0.000000	0.48767	D	0.000167	T	0.68274	0.2983	L	0.47716	1.5	0.40442	D	0.980058	D;D	0.89917	1.0;1.0	D;D	0.97110	0.979;1.0	T	0.71504	-0.4573	10	0.87932	D	0	-6.5144	11.8134	0.52195	0.0:0.8229:0.1771:0.0	.	19;19	Q5U623-2;Q5U623	.;MCAF2_HUMAN	L	19	ENSP00000379808:P19L;ENSP00000348799:P19L	ENSP00000322811:P19L	P	+	2	0	ATF7IP2	10432034	0.997000	0.39634	0.889000	0.34880	0.624000	0.37722	3.819000	0.55686	1.185000	0.42971	0.467000	0.42956	CCC		0.383	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		T	10524533	C	T	10524533	3	4	160	1	0	0	0	0	1	0	0	0	1088	623	22	3	58	3	ATF7IP2	16	10524533	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5660703	10524533	79830220	82	11371											
UMOD	7369	broad.mit.edu	37	chr16	20359594	20359594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgccatctgccattattCgatttgcagtcctcgtctat	7	15	7	12	2	2	0	0	0	2	0	5	1	3	0	3	0	3	1	3	0	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:20359594C>T	ENST00000570689.1	-	4	1070	c.924G>A	c.(922-924)tcG>tcA	p.S308S	UMOD_ENST00000396138.4_Silent_p.S357S|UMOD_ENST00000424589.1_Silent_p.S341S|UMOD_ENST00000302509.4_Silent_p.S308S|UMOD_ENST00000396142.2_Silent_p.S308S|UMOD_ENST00000396134.2_Silent_p.S341S			P07911	UROM_HUMAN	uromodulin	308					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552																																						uc002dhb.3																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1021-1023)tcG>tcA		Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.							231	204	213					16																	20359594		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20359594C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.924G>A	16.37:g.20359594C>T						UMOD_uc002dgz.3_Silent_p.S308S|UMOD_uc002dha.3_Silent_p.S308S	p.S341S	NM_003361	NP_003352	P07911	UROM_HUMAN			4	1152	-			308			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1023G>A	CCDS10583.1																																																																																				0.552	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			T	20359594	C	T	20359594	2	4	160	1	0	0	0	0	0	0	0	1	16976	871	31	2		2	UMOD	16	20359594	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	9835061	20359594	69995159	83	11372											
ITGAX	3687	broad.mit.edu	37	chr16	31373991	31373991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcctgggggcccccCgctaccagcacaccgggaag	6	4	14	17	2	0	0	0	0	0	0	1	1	1	1	7	4	2	2	7	4	2	1	rs201384441		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:31373991C>T	ENST00000268296.4	+	12	1397	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	ITGAX_ENST00000562522.1_Missense_Mutation_p.R426C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	426					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657													c|||	1	0.000199681	0	0	5008	,	,		10122	0.001		0	False		,,,				2504	0					uc002ebt.3																			0		p.R426fs*20(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1276-1278)Cgc>Tgc		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.		C	CYS/ARG	0,4394		0,0,2197	26	27	26		1276	3.9	1	16		26	1,8599		0,1,4299	no	missense	ITGAX	NM_000887.3	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	426/1164	31373991	1,12993	2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373991C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1276C>T	16.37:g.31373991C>T	ENSP00000268296:p.Arg426Cys					ITGAX_uc002ebu.1_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	p.R426C	NM_000887	NP_000878	P20702	ITAX_HUMAN			11	1343	+			426					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1276C>T	CCDS10711.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	23.0	4.364361	0.82463	0.0	1.16E-4	ENSG00000140678	ENST00000268296	T	0.41758	0.99	3.91	3.91	0.45181	.	.	.	.	.	T	0.76004	0.3927	H	0.97983	4.12	0.45883	D	0.998735	D	0.89917	1.0	D	0.91635	0.999	D	0.85085	0.0948	9	0.87932	D	0	.	13.281	0.60214	0.0:1.0:0.0:0.0	.	426	P20702	ITAX_HUMAN	C	426	ENSP00000268296:R426C	ENSP00000268296:R426C	R	+	1	0	ITGAX	31281492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.567000	0.53813	1.912000	0.55364	0.448000	0.29417	CGC		0.657	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31373991	C	T	31373991	3	4	160	1	0	0	0	0	1	0	0	0	7889	652	23	2	1322	2	ITGAX	16	31373991	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	11014397	31373991	58980762	84	11373											
MYO15A	51168	broad.mit.edu	37	chr17	18055238	18055238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctgaaagggcagatgacCcacctggcagctgcacctgg	10	6	12	13	0	0	3	0	2	0	1	1	3	1	3	4	3	2	4	4	3	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18055238C>T	ENST00000205890.5	+	41	8204	c.7866C>T	c.(7864-7866)acC>acT	p.T2622T	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2622	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCAGATGACCCACCTGGCAG	0.602																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7864-7866)acC>acT		Homo sapiens myosin XVA (MYO15A), mRNA.							31	34	33					17																	18055238		1945	4133	6078	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18055238C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7866C>T	17.37:g.18055238C>T						MYO15A_uc021trl.1_Silent_p.T2620T|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	p.T2622T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			39	8085	+	all_neural(463;0.228)		2622			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.7866C>T	CCDS42271.1																																																																																				0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18055238	C	T	18055238	2	4	160	1	0	0	0	0	0	0	0	1	10063	610	22	3		3	MYO15A	17	18055238	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08		18055238	63139972	85	11374											
LLGL1	3996	broad.mit.edu	37	chr17	18138556	18138556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccacgtggccagtgtccCcgccaagctgtgggcccgca	5	5	14	17	3	0	0	0	0	0	0	1	0	1	0	6	3	1	2	6	3	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18138556C>G	ENST00000316843.4	+	10	1310	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	405					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCAGTGTCCCCGCCAAGCTG	0.672																																						uc002gsp.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1213-1215)cCc>cGc		Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.							19	21	20					17																	18138556		2201	4295	6496	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138556C>G		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1214C>G	17.37:g.18138556C>G	ENSP00000321537:p.Pro405Arg						p.P405R	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			9	1275	+	all_neural(463;0.228)		405					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1214C>G	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885324	0.72410	.	.	ENSG00000131899	ENST00000316843	T	0.06687	3.27	6.02	6.02	0.97574	WD40 repeat-like-containing domain (1);	0.199129	0.53938	D	0.000048	T	0.30634	0.0771	M	0.86805	2.84	0.58432	D	0.999997	D	0.59357	0.985	P	0.55222	0.771	T	0.02917	-1.1094	10	0.66056	D	0.02	-24.828	19.3726	0.94495	0.0:1.0:0.0:0.0	.	405	Q15334	L2GL1_HUMAN	R	405	ENSP00000321537:P405R	ENSP00000321537:P405R	P	+	2	0	LLGL1	18079281	1.000000	0.71417	0.962000	0.40283	0.188000	0.23474	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CCC		0.672	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			G	18138556	C	G	18138556	3	3	160	1	0	0	0	0	1	0	0	0	8833	623	22	5	1252	5	LLGL1	17	18138556	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	83318	18138556	63056654	86	11375											
KCNJ12	3768	broad.mit.edu	37	chr17	21319068	21319068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccttcctcttctccatCgagacgcagaccaccatcgg	7	8	9	17	4	2	2	0	0	2	2	6	3	3	2	5	2	0	1	5	2	0	2	rs371084705	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:21319068C>T	ENST00000583088.1	+	3	1309	c.414C>T	c.(412-414)atC>atT	p.I138I	KCNJ12_ENST00000331718.5_Silent_p.I138I	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	138					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCTTCTCCATCGAGACGCAGA	0.672										Prostate(3;0.18)			.|||	3	0.000599042	0.0023	0	5008	,	,		35669	0		0	False		,,,				2504	0					uc021tss.1																			0											c.(412-414)atC>atT		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.		C		2,4404		0,2,2201	43	41	42		414	-6.3	0.9	17		42	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		138/434	21319068	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319068C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.414C>T	17.37:g.21319068C>T						KCNJ18_uc002gyv.1_Silent_p.I138I|KCNJ18_uc021tst.1_Silent_p.I138I	p.I138I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	784	+			138					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.414C>T	CCDS11219.1																																																																																				0.672	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319068	C	T	21319068	2	4	160	1	0	0	0	0	0	0	0	1	8046	874	31	2		2	KCNJ12	17	21319068	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	3180512	21319068	59876142	87	11376											
ACCN1	40	broad.mit.edu	37	chr17	31352958	31352958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgacctagggcaggctctGcacactccttgtgctgctca	7	10	10	14	0	2	1	1	1	1	0	3	1	3	1	2	2	3	5	2	2	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:31352958G>A	ENST00000359872.6	-	5	1789	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	ASIC2_ENST00000225823.2_Missense_Mutation_p.A394V|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	343					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GGCAGGCTCTGCACACTCCTT	0.532																																						uc002hht.3																			0											c.(1180-1182)gCa>gTa		Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	Amiloride(DB00594)						87	69	75					17																	31352958		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31352958G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1028C>T	17.37:g.31352958G>A	ENSP00000352934:p.Ala343Val					ASIC2_uc002hhu.3_Missense_Mutation_p.A343V	p.A394V	NM_183377	NP_899233	Q16515	ACCN1_HUMAN			4	2054	-			343					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1181C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713338	0.89112	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.63913	-0.07;-0.07	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.78314	0.991;0.891	T	0.62586	-0.6823	10	0.16896	T	0.51	-1.2745	16.4308	0.83841	0.0:0.0:1.0:0.0	.	343;394	Q16515;E9PBX2	ACCN1_HUMAN;.	V	394;343;149	ENSP00000225823:A394V;ENSP00000352934:A343V	ENSP00000225823:A394V	A	-	2	0	ACCN1	28377071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.703000	0.98714	2.541000	0.85698	0.555000	0.69702	GCA		0.532	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		A	31352958	G	A	31352958	3	1	160	1	0	0	0	0	1	0	0	0	128	1319	46	3	534	3	ACCN1	17	31352958	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	10033890	31352958	49842252	88	11377											
GAS2L2	246176	broad.mit.edu	37	chr17	34074081	34074081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgtccctgctccccGttccctgcggggtctggggg	0	8	15	18	3	1	0	0	0	1	0	4	0	4	0	6	5	2	2	6	5	0	1	rs369252885		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34074081G>A	ENST00000254466.6	-	5	1066	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R331W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	347					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGCTCCCCGTTCCCTGCGG	0.612																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1039-1041)Cgg>Tgg		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.		G	TRP/ARG	1,4405		0,1,2202	29	34	32		1039	-4.9	0	17		32	0,8596		0,0,4298	no	missense	GAS2L2	NM_139285.3	101	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	347/881	34074081	1,13001	2203	4298	6501	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074081G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1039C>T	17.37:g.34074081G>A	ENSP00000254466:p.Arg347Trp						p.R347W	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1067	-		Ovarian(249;0.17)	347					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1039C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943345	0.18281	2.27E-4	0.0	ENSG00000132139	ENST00000254466	T	0.19394	2.15	4.59	-4.89	0.03103	.	2.211840	0.01653	N	0.024643	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.37606	T	0.19	1.1167	0.8797	0.01231	0.327:0.1142:0.3268:0.2321	.	347	Q8NHY3	GA2L2_HUMAN	W	347	ENSP00000254466:R347W	ENSP00000254466:R347W	R	-	1	2	GAS2L2	31098194	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.326000	0.07965	-0.698000	0.05085	0.561000	0.74099	CGG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		A	34074081	G	A	34074081	3	1	160	1	0	0	0	0	1	0	0	0	6247	1144	40	1	1611	1	GAS2L2	17	34074081	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2721123	34074081	47121129	89	11378											
TAF15	8148	broad.mit.edu	37	chr17	34151174	34151174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtgggggatatgacaagGatggaagaggtcctatgaca	12	7	17	5	1	0	3	0	2	0	1	1	6	1	6	1	6	0	0	1	6	4	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34151174G>T	ENST00000588240.1	+	7	692	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	TAF15_ENST00000311979.3_Missense_Mutation_p.D190Y|AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000592237.1_Missense_Mutation_p.D102Y|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATGACAAGGATGGAAGAGG	0.428			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	uc002hkd.3				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(577-579)Gat>Tat		Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.							153	136	141					17																	34151174		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34151174G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.577G>T	17.37:g.34151174G>T	ENSP00000466950:p.Asp193Tyr					TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.D190Y	p.D193Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	6	663	+		Ovarian(249;0.17)	193			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.577G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471058	0.84533	.	.	ENSG00000172660	ENST00000311979	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	T	0.75102	0.3804	L	0.51422	1.61	0.48762	D	0.999704	D;D	0.71674	0.997;0.998	D;D	0.70935	0.936;0.971	T	0.73467	-0.3973	8	0.51188	T	0.08	-14.6365	18.1147	0.89549	0.0:0.0:1.0:0.0	.	193;190	Q92804;Q92804-2	RBP56_HUMAN;.	Y	193	.	ENSP00000309558:D193Y	D	+	1	0	TAF15	31175287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.882000	0.98803	0.655000	0.94253	GAT		0.428	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		T	34151174	G	T	34151174	3	4	160	1	0	0	0	0	1	0	0	0	15515	1174	41	5	603	5	TAF15	17	34151174	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	77093	34151174	47044036	90	11379											
KCNH6	81033	broad.mit.edu	37	chr17	61607575	61607575	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcagcagccgcagctTgtcccagcgcctgttgtccc	6	8	11	16	2	0	0	0	0	0	0	2	0	2	0	4	0	5	5	4	0	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:61607575T>C	ENST00000583023.1	+	3	442	c.431T>C	c.(430-432)tTg>tCg	p.L144S	KCNH6_ENST00000314672.5_Missense_Mutation_p.L144S|KCNH6_ENST00000581784.1_Missense_Mutation_p.L144S|KCNH6_ENST00000456941.2_Missense_Mutation_p.L144S|KCNH6_ENST00000580652.1_Missense_Mutation_p.L144S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	144	PAC.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGCCGCAGCTTGTCCCAGCGC	0.642																																						uc002jay.3																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(430-432)tTg>tCg		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	Ibutilide(DB00308)						60	57	58					17																	61607575		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61607575T>C	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.431T>C	17.37:g.61607575T>C	ENSP00000463533:p.Leu144Ser					KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.2_Missense_Mutation_p.L21S|KCNH6_uc010wpm.2_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	p.L144S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			2	511	+			144			PAC.		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.431T>C	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.617189	0.28801	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99311	-5.18;-5.73	4.58	4.58	0.56647	.	0.152147	0.29451	N	0.012118	D	0.98005	0.9343	N	0.22421	0.69	0.33076	D	0.535999	D;B;D;P;B	0.62365	0.958;0.349;0.991;0.932;0.187	P;B;P;B;B	0.60682	0.549;0.092;0.878;0.387;0.058	D	0.96864	0.9634	10	0.05833	T	0.94	.	13.7796	0.63075	0.0:0.0:0.0:1.0	.	21;144;144;144;144	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	S	144	ENSP00000318212:L144S;ENSP00000396900:L144S	ENSP00000318212:L144S	L	+	2	0	KCNH6	58961307	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.687000	0.54692	1.928000	0.55862	0.459000	0.35465	TTG		0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		C	61607575	T	C	61607575	3	2	160	1	0	0	0	0	1	0	0	0	8036	1821	63	4	441	4	KCNH6	17	61607575	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	27456401	61607575	19587635	91	11380											
THOC1	9984	broad.mit.edu	37	chr18	247872	247874	+	In_Frame_Del	DEL	TCT	TCT	-																															gagaaaagttttccatgaaaTcttctcatagcattgcacag																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:247872_247874delTCT	ENST00000261600.6	-	10	768_770	c.761_763delAGA	c.(760-765)aagatt>att	p.K254del	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	254					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCCATGAAATCTTCTCATAGCA	0.35																																						uc002kkj.4																			0		p.E253K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(760-765)aagatt>att		Homo sapiens THO complex 1 (THOC1), mRNA.																																				SO:0001651	inframe_deletion	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:247872_247874delTCT	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.761_763delAGA	18.37:g.247875_247877delTCT	ENSP00000261600:p.Lys254del					THOC1_uc002kkl.2_In_Frame_Del_p.K254del	p.K254del	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			9	801_803	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	254					B2RBP6|Q15219|Q64I72|Q64I73	In_Frame_Del	DEL	ENST00000261600.6	37	c.761_763delAGA	CCDS45820.1																																																																																				0.35	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		-	247874	TCT	-	247872	7	5	160	1	0	1	0	1	0	0	0	0	15861	1435	50	0	1258	0	THOC1	18	247872	In_Frame_Del	DEL	TCT	TCGA-19-2631-01A-01D-1353-08		247872	77829376	92	11381											
KIAA1012	22878	broad.mit.edu	37	chr18	29496353	29496353	+	Frame_Shift_Del	DEL	A	A	-																															aattcgatgctgttcttgtgAcaactttgaaaactgttcca																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:29496353delA	ENST00000283351.4	-	4	834	c.499delT	c.(499-501)tcafs	p.S167fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.S113fs|TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.S167fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	167					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTCTTGTGACAACTTTGAA	0.348																																						uc002kxc.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(499-501)tcafs		Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.							133	110	118					18																	29496353		2203	4300	6503	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29496353delA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.499delT	18.37:g.29496353delA	ENSP00000283351:p.Ser167fs					TRAPPC8_uc002kxb.4_Frame_Shift_Del_p.S113fs|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Frame_Shift_Del_p.S167fs|TRAPPC8_uc002kxe.2_Frame_Shift_Del_p.S167fs	p.S167fs	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			3	863	-			167					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.499delT	CCDS11901.1																																																																																				0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		-	29496353	A	-	29496353	7	5	160	1	0	1	0	1	0	0	0	0	8204	275	10	0	3912	0	KIAA1012	18	29496353	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	29248481	29496353	48580895	93	11382											
PSTPIP2	9050	broad.mit.edu	37	chr18	43572096	43572096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatctgtccagttttgcGttgattcacaaagtattcaa	11	15	8	7	1	3	1	2	1	1	0	4	2	4	2	1	1	1	3	1	1	4	6	rs371604789		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:43572096G>A	ENST00000409746.5	-	11	885	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	RN7SKP26_ENST00000410247.1_RNA|PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	272						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCAGTTTTGCGTTGATTCACA	0.388																																						uc002lbp.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						c.(814-816)Cgc>Tgc		Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.		G	CYS/ARG	1,3135		0,1,1567	79	76	77		814	5.5	1	18		77	1,7163		0,1,3581	no	missense	PSTPIP2	NM_024430.3	180	0,2,5148	AA,AG,GG		0.014,0.0319,0.0194	probably-damaging	272/335	43572096	2,10298	1568	3582	5150	SO:0001583	missense	9050					membrane		g.chr18:43572096G>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.814C>T	18.37:g.43572096G>A	ENSP00000387261:p.Arg272Cys					PSTPIP2_uc002lbq.4_Intron|RN7SK_uc021ujh.1_5'Flank	p.R272C	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			10	910	-			272						Missense_Mutation	SNP	ENST00000409746.5	37	c.814C>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849676	0.91277	3.19E-4	1.4E-4	ENSG00000152229	ENST00000409746	T	0.43688	0.94	5.51	5.51	0.81932	.	0.112192	0.64402	D	0.000016	T	0.61912	0.2385	M	0.78456	2.415	0.42100	D	0.991332	D	0.76494	0.999	P	0.56343	0.796	T	0.64833	-0.6314	10	0.54805	T	0.06	.	18.6203	0.91318	0.0:0.0:1.0:0.0	.	272	Q9H939	PPIP2_HUMAN	C	272	ENSP00000387261:R272C	ENSP00000387261:R272C	R	-	1	0	PSTPIP2	41826094	0.681000	0.27614	0.951000	0.38953	0.951000	0.60555	3.514000	0.53422	2.769000	0.95229	0.579000	0.79373	CGC		0.388	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			A	43572096	G	A	43572096	3	1	160	1	0	0	0	0	1	0	0	0	12722	1145	40	1	206	1	PSTPIP2	18	43572096	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	14075743	43572096	34505152	94	11383											
DENND1C	79958	broad.mit.edu	37	chr19	6477231	6477231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccccgagccccgctcaccgGcttgctattcccccgggtag	4	8	10	19	4	1	0	1	0	0	0	3	1	3	0	7	2	2	4	7	2	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:6477231G>C	ENST00000381480.2	-	8	623	c.511C>G	c.(511-513)Ccg>Gcg	p.P171A	DENND1C_ENST00000543576.1_Missense_Mutation_p.P127A|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	171	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCGCTCACCGGCTTGCTATTC	0.667																																						uc002mfe.3																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(511-513)Ccg>Gcg		Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.							19	25	23					19																	6477231		1911	4101	6012	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477231G>C	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.511C>G	19.37:g.6477231G>C	ENSP00000370889:p.Pro171Ala					DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P127A	p.P171A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			7	603	-			171			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.511C>G	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	g	7.279	0.608632	0.14002	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.10668	2.85;2.85	4.34	1.81	0.25067	DENN (3);	1.160310	0.06935	U	0.811728	T	0.07503	0.0189	L	0.33245	0.995	0.09310	N	1	B	0.18310	0.027	B	0.17979	0.02	T	0.43750	-0.9372	10	0.10377	T	0.69	-1.756	4.3261	0.11041	0.1203:0.0:0.5988:0.281	.	171	Q8IV53	DEN1C_HUMAN	A	171;127	ENSP00000370889:P171A;ENSP00000437805:P127A	ENSP00000370889:P171A	P	-	1	0	DENND1C	6428231	0.819000	0.29175	0.358000	0.25811	0.120000	0.20174	0.897000	0.28390	0.957000	0.37930	0.543000	0.68304	CCG		0.667	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		C	6477231	G	C	6477231	3	2	160	1	0	0	0	0	1	0	0	0	4428	1203	42	5	1958	5	DENND1C	19	6477231	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		6477231	52651752	95	11384											
MUC16	94025	broad.mit.edu	37	chr19	8997532	8997532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaccaggagagggctGgcagctgtcgtggaggtggg	9	6	19	7	1	0	1	0	0	0	1	1	3	0	2	1	6	2	4	1	6	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:8997532G>A	ENST00000397910.4	-	59	41093	c.40890C>T	c.(40888-40890)gcC>gcT	p.A13630A	MUC16_ENST00000380951.5_Silent_p.A271A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13632				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGGCTGGCAGCTGTCG	0.468																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40888-40890)gcC>gcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							137	110	119					19																	8997532		1951	4177	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997532G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40890C>T	19.37:g.8997532G>A						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.A447A|MUC16_uc021uog.1_Non-coding_Transcript	p.A13630A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			58	41094	-			13632	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40890C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.792	-0.479308	0.04383	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.77	-5.53	0.02552	.	.	.	.	.	T	0.33498	0.0865	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32241	-0.9914	3	.	.	.	-0.0872	6.538	0.22365	0.4839:0.0:0.3835:0.1326	.	.	.	.	L	470	.	.	P	-	2	0	MUC16	8858532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.410000	0.00238	-5.416000	0.00015	-1.189000	0.01698	CCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8997532	G	A	8997532	2	1	160	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	8997532	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	2520301	8997532	50131451	96	11385											
FBXL12	54850	broad.mit.edu	37	chr19	9922084	9922084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggacgcggtccagcaCgatgcattcaagcaggggca	9	4	17	11	4	1	0	1	0	0	0	2	2	2	1	1	6	3	4	1	6	1	1	rs61753275		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:9922084C>T	ENST00000247977.4	-	3	710	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.V104M|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.V104M|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	157					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGGTCCAGCACGATGCATTCA	0.667													C|||	1	0.000199681	0	0	5008	,	,		15237	0.001		0	False		,,,				2504	0					uc002mme.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(469-471)Gtg>Atg		Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.		C	MET/VAL	0,4406	2.1+/-5.4	0,0,2203	45	46	45		469	2.6	0.9	19	dbSNP_129	45	6,8592	5.0+/-18.6	0,6,4293	yes	missense	FBXL12	NM_017703.1	21	0,6,6496	TT,TC,CC		0.0698,0.0,0.0461	possibly-damaging	157/327	9922084	6,12998	2203	4299	6502	SO:0001583	missense	54850						protein binding	g.chr19:9922084C>T	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.469G>A	19.37:g.9922084C>T	ENSP00000247977:p.Val157Met					FBXL12_uc002mmd.3_Missense_Mutation_p.V104M|FBXL12_uc002mmf.3_Missense_Mutation_p.V104M|FBXL12_uc002mmg.3_Missense_Mutation_p.V104M	p.V157M	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	711	-			157					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.469G>A	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120847	0.56613	0.0	6.98E-4	ENSG00000127452	ENST00000247977	T	0.17370	2.28	4.76	2.58	0.30949	.	0.274687	0.29653	N	0.011546	T	0.15435	0.0372	N	0.19112	0.55	0.58432	D	0.999999	D	0.71674	0.998	P	0.54346	0.749	T	0.04400	-1.0954	9	.	.	.	.	7.5129	0.27583	0.0:0.8002:0.0:0.1998	rs61753275	157	Q9NXK8	FXL12_HUMAN	M	157	ENSP00000247977:V157M	.	V	-	1	0	FBXL12	9783084	0.259000	0.24043	0.874000	0.34290	0.941000	0.58515	0.360000	0.20250	1.233000	0.43693	0.655000	0.94253	GTG		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		T	9922084	C	T	9922084	3	4	160	1	0	0	0	0	1	0	0	0	5708	536	19	1	515	1	FBXL12	19	9922084	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	924552	9922084	49206899	97	11386											
B3GNT3	10331	broad.mit.edu	37	chr19	17919127	17919127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggaggcacagactcacGgagacatcctgcagtgggac	11	5	14	11	1	1	2	1	0	0	2	2	5	2	4	1	4	2	3	1	4	0	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17919127G>A	ENST00000318683.6	+	2	658	c.511G>A	c.(511-513)Gga>Aga	p.G171R	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G171R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	171					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACAGACTCACGGAGACATCCT	0.637																																						uc002nhl.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(511-513)Gga>Aga		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.							44	42	43					19																	17919127		2203	4299	6502	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17919127G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.511G>A	19.37:g.17919127G>A	ENSP00000321874:p.Gly171Arg					B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			1	658	+			171					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.511G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672086	0.14776	.	.	ENSG00000179913	ENST00000318683	T	0.50548	0.74	3.92	1.7	0.24286	.	0.318671	0.32987	U	0.005406	T	0.35068	0.0919	L	0.41124	1.26	0.09310	N	0.999997	P	0.41345	0.746	B	0.40375	0.327	T	0.13926	-1.0491	10	0.39692	T	0.17	.	7.0395	0.25013	0.1022:0.1744:0.7234:0.0	.	171	Q9Y2A9	B3GN3_HUMAN	R	171	ENSP00000321874:G171R	ENSP00000321874:G171R	G	+	1	0	B3GNT3	17780127	0.013000	0.17824	0.001000	0.08648	0.219000	0.24729	0.871000	0.28023	0.154000	0.19237	-0.772000	0.03388	GGA		0.637	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		A	17919127	G	A	17919127	3	1	160	1	0	0	0	0	1	0	0	0	1258	1117	39	2	513	2	B3GNT3	19	17919127	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	7997043	17919127	41209856	98	11387											
SLC5A5	6528	broad.mit.edu	37	chr19	17986765	17986765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcccatgctgcagggcgGcatgaaggctgtggtctgga	6	9	16	10	1	1	1	0	1	1	0	2	2	2	2	1	5	2	4	1	5	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17986765G>A	ENST00000222248.3	+	5	895	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	183					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCAGGGCGGCATGAAGGCT	0.612																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.4																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(547-549)gGc>gAc		Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.							277	200	226					19																	17986765		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17986765G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.548G>A	19.37:g.17986765G>A	ENSP00000222248:p.Gly183Asp						p.G183D	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			4	895	+			183					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.548G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419001	0.83559	.	.	ENSG00000105641	ENST00000222248	D	0.97888	-4.59	5.0	5.0	0.66597	Sodium/solute symporter, conserved site (1);	0.054065	0.64402	D	0.000001	D	0.99272	0.9746	H	0.98525	4.255	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98600	1.0658	10	0.87932	D	0	.	16.1536	0.81640	0.0:0.0:1.0:0.0	.	183	Q92911	SC5A5_HUMAN	D	183	ENSP00000222248:G183D	ENSP00000222248:G183D	G	+	2	0	SLC5A5	17847765	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.646000	0.98474	2.515000	0.84797	0.491000	0.48974	GGC		0.612	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			A	17986765	G	A	17986765	3	1	160	1	0	0	0	0	1	0	0	0	14668	1203	42	3	566	3	SLC5A5	19	17986765	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	67638	17986765	41142218	99	11388											
FAM187B	148109	broad.mit.edu	37	chr19	35718991	35718991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggacgtggcaggcttccAcctgcagctcaggccgcaag	8	6	13	14	2	1	0	1	0	0	0	2	1	2	1	3	4	2	5	3	4	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:35718991A>C	ENST00000324675.3	-	1	641	c.593T>G	c.(592-594)gTg>gGg	p.V198G		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	198						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCAGGCTTCCACCTGCAGCTC	0.542																																						uc002nyk.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(592-594)gTg>gGg		Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.							73	63	67					19																	35718991		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35718991A>C	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.593T>G	19.37:g.35718991A>C	ENSP00000323355:p.Val198Gly						p.V198G	NM_152481	NP_689694	Q17R55	F187B_HUMAN			0	638	-			198					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.593T>G	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335914	0.41398	.	.	ENSG00000177558	ENST00000324675	T	0.27256	1.68	5.07	5.07	0.68467	.	1.208890	0.06144	N	0.672982	T	0.48589	0.1508	L	0.57536	1.79	0.49798	D	0.999826	D	0.76494	0.999	D	0.65010	0.931	T	0.05699	-1.0869	10	0.87932	D	0	-12.232	11.5204	0.50546	1.0:0.0:0.0:0.0	.	198	Q17R55	F187B_HUMAN	G	198	ENSP00000323355:V198G	ENSP00000323355:V198G	V	-	2	0	FAM187B	40410831	0.357000	0.24938	0.580000	0.28601	0.030000	0.12068	4.438000	0.59961	2.033000	0.60031	0.533000	0.62120	GTG		0.542	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		C	35718991	A	C	35718991	3	2	160	1	0	0	0	0	1	0	0	0	5513	159	6	5	524	5	FAM187B	19	35718991	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	17732226	35718991	23409992	100	11389											
SYMPK	8189	broad.mit.edu	37	chr19	46338456	46338456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaaggaggctggcatggCctcgggtaggtacaccatgc	8	7	16	10	1	0	0	0	0	0	0	1	2	0	2	2	7	2	4	2	7	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:46338456C>T	ENST00000245934.7	-	11	1517	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	425					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCTGGCATGGCCTCGGGTAGG	0.572																																						uc002pdn.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1273-1275)Gcc>Acc		Homo sapiens symplekin (SYMPK), mRNA.							82	76	78					19																	46338456		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46338456C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1273G>A	19.37:g.46338456C>T	ENSP00000245934:p.Ala425Thr					SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.2_Missense_Mutation_p.A425T	p.A425T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	10	1518	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	425					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1273G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682775	0.14907	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.86	0.194	0.15143	Armadillo-type fold (1);	0.365415	0.27206	N	0.020437	T	0.06690	0.0171	N	0.01048	-1.04	0.25148	N	0.990441	B;B	0.15141	0.012;0.0	B;B	0.08055	0.003;0.0	T	0.32295	-0.9912	9	0.07990	T	0.79	.	3.6072	0.08046	0.1774:0.3504:0.0:0.4722	.	440;425	Q4LE61;Q92797	.;SYMPK_HUMAN	T	425	.	ENSP00000245934:A425T	A	-	1	0	SYMPK	51030296	0.995000	0.38212	0.987000	0.45799	0.827000	0.46813	0.486000	0.22340	-0.056000	0.13221	-0.236000	0.12185	GCC		0.572	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		T	46338456	C	T	46338456	3	4	160	1	0	0	0	0	1	0	0	0	15436	739	26	3	2619	3	SYMPK	19	46338456	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	10619465	46338456	12790527	101	11390											
FAM83E	54854	broad.mit.edu	37	chr19	49106813	49106813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggtcccacatggagcGgctgggccgggccggggggc	4	5	20	12	3	0	0	0	0	0	0	1	1	1	1	3	8	1	2	3	8	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:49106813G>A	ENST00000263266.3	-	4	1303	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	372			R -> H (in dbSNP:rs3745727).							NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACATGGAGCGGCTgggccgg	0.692																																						uc002pjn.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(1114-1116)Cgc>Tgc		Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.							9	11	10					19																	49106813		1780	3933	5713	SO:0001583	missense	54854							g.chr19:49106813G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1114C>T	19.37:g.49106813G>A	ENSP00000263266:p.Arg372Cys						p.R372C	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	3	1179	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	372		R -> H (in dbSNP:rs3745727).			Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.1114C>T	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008304	0.75046	.	.	ENSG00000105523	ENST00000263266	T	0.10960	2.82	4.45	4.45	0.53987	.	0.262081	0.28166	N	0.016355	T	0.18882	0.0453	L	0.29908	0.895	0.40386	D	0.979494	D	0.89917	1.0	D	0.69654	0.965	T	0.01188	-1.1424	10	0.87932	D	0	-17.6962	10.2418	0.43316	0.0:0.0:0.8016:0.1984	.	372	Q2M2I3	FA83E_HUMAN	C	372	ENSP00000263266:R372C	ENSP00000263266:R372C	R	-	1	0	FAM83E	53798625	0.997000	0.39634	1.000000	0.80357	0.897000	0.52465	1.092000	0.30927	2.217000	0.71921	0.549000	0.68633	CGC		0.692	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		A	49106813	G	A	49106813	3	1	160	1	0	0	0	0	1	0	0	0	5637	1116	39	2	330	2	FAM83E	19	49106813	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2768357	49106813	10022170	102	11391											
ZNF845	91664	broad.mit.edu	37	chr19	53854361	53854361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcttggatcaagctttCattcgcatctgcctgaactc	9	13	7	12	1	4	1	3	1	1	0	6	2	4	2	1	1	4	3	1	1	2	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:53854361C>A	ENST00000595091.1	+	5	652	c.433C>A	c.(433-435)Cat>Aat	p.H145N	ZNF845_ENST00000458035.1_Missense_Mutation_p.H145N			Q96IR2	ZN845_HUMAN	zinc finger protein 845	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAGCTTTCATTCGCATCT	0.428																																						uc010ydv.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(433-435)Cat>Aat		Homo sapiens zinc finger protein 845 (ZNF845), mRNA.							74	55	60					19																	53854361		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854361C>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.433C>A	19.37:g.53854361C>A	ENSP00000470005:p.His145Asn					ZNF845_uc010ydw.1_Missense_Mutation_p.H145N	p.H145N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			3	550	+			145						Missense_Mutation	SNP	ENST00000595091.1	37	c.433C>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	6.101	0.386908	0.11581	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07114	3.22	1.2	1.2	0.21068	.	.	.	.	.	T	0.06690	0.0171	N	0.11698	0.16	0.09310	N	1	P	0.51449	0.945	P	0.50082	0.63	T	0.41197	-0.9522	9	0.23302	T	0.38	.	7.9339	0.29918	0.0:1.0:0.0:0.0	.	145	Q96IR2	ZN845_HUMAN	N	145	ENSP00000388311:H145N	ENSP00000412086:H145N	H	+	1	0	ZNF845	58546173	0.015000	0.18098	0.009000	0.14445	0.021000	0.10359	0.760000	0.26475	0.960000	0.38005	0.411000	0.27672	CAT		0.428	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		A	53854361	C	A	53854361	3	1	160	1	0	0	0	0	1	0	0	0	18188	826	29	5	443	5	ZNF845	19	53854361	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	4747548	53854361	5274622	103	11392											
SEC23B	10483	broad.mit.edu	37	chr20	18511418	18511418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttaatggagatttccgaAtggcatttggtgctactttg	9	17	10	5	1	0	1	0	0	0	1	1	3	1	1	1	3	2	2	1	3	3	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:18511418A>G	ENST00000336714.3	+	10	1636	c.1204A>G	c.(1204-1206)Atg>Gtg	p.M402V	SEC23B_ENST00000377465.1_Missense_Mutation_p.M402V|SEC23B_ENST00000377475.3_Missense_Mutation_p.M402V|SEC23B_ENST00000262544.2_Missense_Mutation_p.M402V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	402					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGATTTCCGAATGGCATTTGG	0.398																																						uc002wra.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1204-1206)Atg>Gtg		Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.							82	81	82					20																	18511418		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18511418A>G	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1204A>G	20.37:g.18511418A>G	ENSP00000338844:p.Met402Val					SEC23B_uc010zsb.2_Missense_Mutation_p.M384V|SEC23B_uc002wrb.2_Missense_Mutation_p.M402V|SEC23B_uc002wqz.2_Missense_Mutation_p.M402V|SEC23B_uc002wrc.2_Missense_Mutation_p.M402V	p.M402V	NM_032985	NP_116781	Q15437	SC23B_HUMAN			9	1665	+			402					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1204A>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217916	0.79352	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89033	0.6600	M	0.87758	2.905	0.80722	D	1	B;B	0.24533	0.105;0.053	B;B	0.23419	0.046;0.029	D	0.87553	0.2466	10	0.59425	D	0.04	-24.9691	15.0164	0.71588	1.0:0.0:0.0:0.0	.	384;402	B4DJW8;Q15437	.;SC23B_HUMAN	V	402	ENSP00000338844:M402V;ENSP00000262544:M402V;ENSP00000366695:M402V;ENSP00000366685:M402V	ENSP00000262544:M402V	M	+	1	0	SEC23B	18459418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.326000	0.78906	0.533000	0.62120	ATG		0.398	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			G	18511418	A	G	18511418	3	3	160	1	0	0	0	0	1	0	0	0	13992	101	4	4	1238	4	SEC23B	20	18511418	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		18511418	44514102	104	11393											
SRC	6714	broad.mit.edu	37	chr20	36030005	36030005	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtctctctctgcccagGgagtttgctggactttctca	4	14	11	12	0	3	0	1	0	3	0	6	2	3	2	1	3	2	2	1	3	0	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36030005G>A	ENST00000373578.2	+	11	1389	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	SRC_ENST00000445403.1_Splice_Site_p.G347E|SRC_ENST00000373567.2_Splice_Site_p.G347E|SRC_ENST00000358208.4_Splice_Site_p.G347E|SRC_ENST00000360723.4_Splice_Site_p.G353E|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373558.2_Splice_Site_p.G353E	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CTCTGCCCAGGGAGTTTGCTG	0.617																																						uc002xgx.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.e11-1		Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	Dasatinib(DB01254)						86	77	80					20																	36030005		2203	4300	6503	SO:0001630	splice_region_variant	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36030005G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1040-1G>A	20.37:g.36030005G>A						SRC_uc002xgy.3_Splice_Site_p.G347_splice|SRC_uc021wdd.1_5'Flank	p.G347_splice	NM_005417	NP_938033	P12931	SRC_HUMAN			11	1489	+		Myeloproliferative disorder(115;0.00878)	347			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1040_splice	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923727	0.92319	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96715	0.9528	9	.	.	.	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	347	P12931	SRC_HUMAN	E	347;347;353;347;347;353	ENSP00000408503:G347E;ENSP00000362680:G347E;ENSP00000353950:G353E;ENSP00000350941:G347E;ENSP00000362668:G347E;ENSP00000362659:G353E	.	G	+	2	0	SRC	35463419	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GGG		0.617	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417	Missense_Mutation	A	36030005	G	A	36030005	5	1	160	1	0	0	0	0	0	0	1	0	15133	1246	43	3	1070	3	SRC	20	36030005	Splice_Site	SNP	G	TCGA-19-2631-01A-01D-1353-08	17518587	36030005	26995515	105	11394											
KIAA1755	85449	broad.mit.edu	37	chr20	36841631	36841631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcttgtgggagcctttgCcgtcttcagcctctgcagcc	4	11	12	14	1	3	0	1	0	2	0	3	1	3	1	4	1	6	3	4	1	0	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36841631C>T	ENST00000279024.4	-	14	3687	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1139										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGAGCCTTTGCCGTCTTCAGC	0.652																																						uc002xhy.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3415-3417)gGc>gAc		Homo sapiens KIAA1755 (KIAA1755), mRNA.							40	41	40					20																	36841631		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36841631C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3416G>A	20.37:g.36841631C>T	ENSP00000279024:p.Gly1139Asp					KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	p.G1139D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			13	3688	-		Myeloproliferative disorder(115;0.00874)	1139					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.3416G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759568	0.31137	.	.	ENSG00000149633	ENST00000279024	T	0.07021	3.23	4.4	0.00781	0.14072	.	1.255630	0.05653	N	0.585590	T	0.06234	0.0161	L	0.43923	1.385	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.43081	-0.9413	10	0.09590	T	0.72	.	1.3486	0.02168	0.1752:0.4558:0.1703:0.1987	.	1139	Q5JYT7	K1755_HUMAN	D	1139	ENSP00000279024:G1139D	ENSP00000279024:G1139D	G	-	2	0	KIAA1755	36275045	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.111000	0.15458	-0.045000	0.13468	0.561000	0.74099	GGC		0.652	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36841631	C	T	36841631	3	4	160	1	0	0	0	0	1	0	0	0	8257	739	26	3	190	3	KIAA1755	20	36841631	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	811626	36841631	26183889	106	11395											
LPIN3	64900	broad.mit.edu	37	chr20	39986528	39986528	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccccactctcagaaatggGtacaagttcctgtactgctc	9	11	7	14	0	1	1	1	0	1	1	5	1	3	1	3	1	3	4	3	1	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:39986528G>T	ENST00000373257.3	+	17	2137	c.2046G>T	c.(2044-2046)ggG>ggT	p.G682G		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	682	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCAGAAATGGGTACAAGTTCC	0.622																																						uc010ggh.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2047-2049)ggG>ggT		Homo sapiens lipin 3 (LPIN3), mRNA.							46	50	49					20																	39986528		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39986528G>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2046G>T	20.37:g.39986528G>T						LPIN3_uc002xjx.3_Silent_p.G682G|LPIN3_uc010zwf.2_Non-coding_Transcript	p.G683G	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			16	2140	+		Myeloproliferative disorder(115;0.000739)	682			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.2049G>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	9.480	1.097851	0.20552	.	.	ENSG00000132793	ENST00000445975	D	0.89485	-2.52	5.37	1.18	0.20946	.	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75113	-0.3432	6	.	.	.	-31.691	1.4263	0.02324	0.269:0.2582:0.3463:0.1266	.	.	.	.	V	172	ENSP00000398092:G172V	.	G	+	2	0	LPIN3	39419942	0.993000	0.37304	1.000000	0.80357	0.958000	0.62258	0.344000	0.19962	0.621000	0.30232	0.655000	0.94253	GGT		0.622	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39986528	G	T	39986528	2	4	160	1	0	0	0	0	0	0	0	1	8920	1248	44	5		5	LPIN3	20	39986528	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	3144897	39986528	23038992	107	11396											
DPM1	8813	broad.mit.edu	37	chr20	49574949	49574949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgatgagcggcaggttctCgcgctcgttgtaggtaggta	7	10	15	9	5	1	1	0	1	1	0	3	2	1	1	0	4	1	7	0	4	3	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:49574949C>T	ENST00000371588.5	-	1	138	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DPM1_ENST00000371583.5_Missense_Mutation_p.E38K|MOCS3_ENST00000244051.1_5'Flank|DPM1_ENST00000371582.4_Missense_Mutation_p.E38K|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	38					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGCAGGTTCTCGCGCTCGTTG	0.582																																						uc002xvw.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(112-114)Gag>Aag		Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.							51	45	47					20																	49574949		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49574949C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.112G>A	20.37:g.49574949C>T	ENSP00000360644:p.Glu38Lys					DPM1_uc002xvx.1_Non-coding_Transcript|MOCS3_uc002xvy.1_5'Flank	p.E38K	NM_003859	NP_003850	O60762	DPM1_HUMAN			0	112	-			38					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.112G>A	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.151955|4.151955	0.78001|0.78001	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|T	0.60299|0.59224	0.2;0.2;0.2;0.2|0.28	5.8|5.8	5.8|5.8	0.92144|0.92144	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63319|0.63319	0.2501|0.2501	L|L	0.46567|0.46567	1.45|1.45	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.21225|.	0.053|.	B|.	0.25405|.	0.06|.	T|T	0.58295|0.58295	-0.7661|-0.7661	9|6	.|.	.|.	.|.	-16.8914|-16.8914	15.9799|15.9799	0.80102|0.80102	0.0:0.8652:0.1348:0.0|0.0:0.8652:0.1348:0.0	.|.	38|.	O60762|.	DPM1_HUMAN|.	K|Q	38|37	ENSP00000360644:E38K;ENSP00000360638:E38K;ENSP00000360639:E38K;ENSP00000394921:E38K|ENSP00000360640:R37Q	.|.	E|R	-|-	1|2	0|0	DPM1|DPM1	49008356|49008356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.055000|5.055000	0.64282|0.64282	2.733000|2.733000	0.93635|0.93635	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.582	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		T	49574949	C	T	49574949	3	4	160	1	0	0	0	0	1	0	0	0	4724	893	31	2	706	2	DPM1	20	49574949	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9588421	49574949	13450571	108	11397											
NFATC2	4773	broad.mit.edu	37	chr20	50007936	50007936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctataatggcttcttttaCgtctgatttctggcaggagg	7	16	11	7	1	3	1	0	1	3	0	3	2	3	2	0	4	2	3	0	4	3	6	rs148642400		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:50007936C>T	ENST00000396009.3	-	10	2994	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	NFATC2_ENST00000610033.1_3'UTR|NFATC2_ENST00000609507.1_3'UTR|NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000609943.1_Silent_p.T905T|NFATC2_ENST00000414705.1_3'UTR	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	925					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCTTTTACGTCTGATTTC	0.498																																						uc002xwd.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2773-2775)acG>acA		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.		C	,,	0,4406		0,0,2203	173	174	174		,,2775	3.7	1	20	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,utr-3,coding-synonymous	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	,,925/926	50007936	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50007936C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2775G>A	20.37:g.50007936C>T						NFATC2_uc002xwc.3_3'UTR|NFATC2_uc010zyv.2_3'UTR|NFATC2_uc010zyw.2_Silent_p.T706T|NFATC2_uc002xwe.3_Silent_p.T905T|NFATC2_uc010zyx.2_3'UTR|NFATC2_uc010zyy.2_3'UTR|NFATC2_uc010zyz.2_Silent_p.T706T	p.T925T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2995	-	Hepatocellular(150;0.248)		925					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2775G>A	CCDS13437.1																																																																																				0.498	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		T	50007936	C	T	50007936	2	4	160	1	0	0	0	0	0	0	0	1	10362	523	19	1		1	NFATC2	20	50007936	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	432987	50007936	13017584	109	11398											
TMPRSS15	5651	broad.mit.edu	37	chr21	19651292	19651292	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatttaccttgatatacaAccgtcccccaaccagcaata	15	10	3	13	1	0	1	0	1	0	0	1	1	1	1	5	0	5	1	5	0	8	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:19651292A>T	ENST00000284885.3	-	23	2786	c.2753T>A	c.(2752-2754)gTt>gAt	p.V918D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	918	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGATATACAACCGTCCCCCA	0.328																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2752-2754)gTt>gAt		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							43	44	44					21																	19651292		2203	4297	6500	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19651292A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2753T>A	21.37:g.19651292A>T	ENSP00000284885:p.Val918Asp						p.V918D	NM_002772	NP_002763	P98073	ENTK_HUMAN			22	2784	-			918			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2753T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	2.162	-0.392029	0.04932	.	.	ENSG00000154646	ENST00000284885	D	0.92858	-3.12	5.4	4.26	0.50523	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.493310	0.04075	N	0.308612	D	0.88051	0.6333	L	0.37850	1.14	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.73122	-0.4082	9	.	.	.	.	7.4165	0.27047	0.8383:0.0:0.1617:0.0	.	918	P98073	ENTK_HUMAN	D	918	ENSP00000284885:V918D	.	V	-	2	0	TMPRSS15	18573163	0.000000	0.05858	0.025000	0.17156	0.001000	0.01503	0.582000	0.23834	2.043000	0.60533	0.533000	0.62120	GTT		0.328	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19651292	A	T	19651292	3	4	160	1	0	0	0	0	1	0	0	0	16243	43	2	5	318	5	TMPRSS15	21	19651292	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		19651292	28478603	110	11399											
IFNGR2	3460	broad.mit.edu	37	chr21	34805024	34805024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgtgtcctctttttagcctCcactgagcttcagcaagtca	7	14	7	13	1	3	1	2	1	1	0	6	1	5	1	3	0	3	2	3	0	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:34805024C>G	ENST00000290219.6	+	6	1373	c.725C>G	c.(724-726)tCc>tGc	p.S242C	IFNGR2_ENST00000381995.1_Missense_Mutation_p.S261C|IFNGR2_ENST00000405436.1_Missense_Mutation_p.S163C	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	242					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTTTTAGCCTCCACTGAGCTT	0.468																																						uc002yrp.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(724-726)tCc>tGc		Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	Interferon gamma-1b(DB00033)						148	132	137					21																	34805024		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34805024C>G		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.725C>G	21.37:g.34805024C>G	ENSP00000290219:p.Ser242Cys					TMEM50B_uc002yrs.2_Non-coding_Transcript	p.S242C	NM_005534	NP_005525	P38484	INGR2_HUMAN			5	1373	+			242					Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.725C>G	CCDS33544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.10|17.10	3.303807|3.303807	0.60305|0.60305	.|.	.|.	ENSG00000159128|ENSG00000159128	ENST00000421802|ENST00000290219;ENST00000381995;ENST00000405436	.|T;T;T	.|0.71103	.|0.61;0.59;-0.54	5.44|5.44	3.2|3.2	0.36748|0.36748	.|Immunoglobulin-like fold (1);	.|2.522970	.|0.01028	.|N	.|0.004089	T|T	0.74824|0.74824	0.3767|0.3767	L|L	0.50333|0.50333	1.59|1.59	0.18873|0.18873	N|N	0.999989|0.999989	.|D;D	.|0.71674	.|0.995;0.998	.|P;P	.|0.54270	.|0.747;0.747	T|T	0.56347|0.56347	-0.7994|-0.7994	5|10	.|0.51188	.|T	.|0.08	-2.5866|-2.5866	4.2521|4.2521	0.10700|0.10700	0.2206:0.643:0.0:0.1364|0.2206:0.643:0.0:0.1364	.|.	.|261;242	.|E7EUY1;P38484	.|.;INGR2_HUMAN	A|C	8|242;261;163	.|ENSP00000290219:S242C;ENSP00000371425:S261C;ENSP00000385044:S163C	.|ENSP00000290219:S242C	P|S	+|+	1|2	0|0	IFNGR2|IFNGR2	33726894|33726894	0.000000|0.000000	0.05858|0.05858	0.042000|0.042000	0.18584|0.18584	0.272000|0.272000	0.26649|0.26649	0.401000|0.401000	0.20948|0.20948	1.401000|1.401000	0.46761|0.46761	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.468	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			G	34805024	C	G	34805024	3	3	160	1	0	0	0	0	1	0	0	0	7550	855	30	5	747	5	IFNGR2	21	34805024	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	15153732	34805024	13324871	111	11400											
ZBED1	9189	broad.mit.edu	37	chrX	2407889	2407889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcattgaaggtgtggcccAggcagggcatgtgcactgcg	7	7	17	10	2	0	1	0	1	0	0	0	1	0	1	1	5	2	4	1	5	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:2407889A>G	ENST00000381223.4	-	2	1075	c.872T>C	c.(871-873)cTg>cCg	p.L291P	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.L291P|ZBED1_ENST00000381222.2_Missense_Mutation_p.L291P|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	291					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGCCCAGGCAGGGCAT	0.647																																						uc022brx.1																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(871-873)cTg>cCg		Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.							101	96	98					X																	2407889		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407889A>G	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.872T>C	X.37:g.2407889A>G	ENSP00000370621:p.Leu291Pro					DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.L291P|ZBED1_uc004cqg.2_Missense_Mutation_p.L291P|ZBED1_uc022brw.1_Missense_Mutation_p.L291P	p.L291P	NM_004729	NP_004720	O96006	ZBED1_HUMAN			0	872	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	291					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.872T>C	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	a	11.75	1.730343	0.30684	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22945	1.93;1.93;1.93	3.19	3.19	0.36642	Ribonuclease H-like (1);	0.114485	0.35151	N	0.003415	T	0.44008	0.1273	.	.	.	0.20489	N	0.999894	D	0.76494	0.999	D	0.83275	0.996	T	0.18398	-1.0338	9	0.36615	T	0.2	-31.2606	10.991	0.47549	1.0:0.0:0.0:0.0	.	291	O96006	ZBED1_HUMAN	P	291	ENSP00000370621:L291P;ENSP00000370620:L291P;ENSP00000370616:L291P	ENSP00000370616:L291P	L	-	2	0	ZBED1	2417889	1.000000	0.71417	0.654000	0.29608	0.158000	0.22134	6.612000	0.74187	1.003000	0.39130	0.419000	0.28159	CTG		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		G	2407889	A	G	2407889	3	3	160	1	0	0	0	0	1	0	0	0	17514	188	7	4	1216	4	ZBED1	23	2407889	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		2407889	152862671	112	11401											
ARX	170302	broad.mit.edu	37	chrX	25031255	25031255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgggtgacagctccccgCcctctgtggccactgcagcg	4	8	12	17	2	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:25031255C>G	ENST00000379044.4	-	2	1067	c.857G>C	c.(856-858)gGc>gCc	p.G286A		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	286			G -> S (in MRXARX; dbSNP:rs28935479). {ECO:0000269|PubMed:11971879}.		axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CAGCTCCCCGCCCTCTGTGGC	0.726																																						uc004dbp.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(856-858)gGc>gCc		Homo sapiens aristaless related homeobox (ARX), mRNA.							14	12	13					X																	25031255		2194	4279	6473	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031255C>G	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.857G>C	X.37:g.25031255C>G	ENSP00000368332:p.Gly286Ala						p.G286A	NM_139058	NP_620689	Q96QS3	ARX_HUMAN			1	1068	-			286		G -> S (in MRX54; dbSNP:rs28935479).				Missense_Mutation	SNP	ENST00000379044.4	37	c.857G>C	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.500695	0.26861	.	.	ENSG00000004848	ENST00000379044	D	0.94280	-3.39	3.83	2.88	0.33553	.	0.198483	0.41938	D	0.000793	T	0.79347	0.4430	N	0.02539	-0.55	0.30571	N	0.763455	B	0.12013	0.005	B	0.09377	0.004	T	0.73129	-0.4080	10	0.32370	T	0.25	.	6.2261	0.20708	0.0:0.7042:0.1867:0.1092	.	286	Q96QS3	ARX_HUMAN	A	286	ENSP00000368332:G286A	ENSP00000368332:G286A	G	-	2	0	ARX	24941176	.	.	1.000000	0.80357	0.370000	0.29829	.	.	1.518000	0.48934	0.141000	0.15989	GGC		0.726	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			G	25031255	C	G	25031255	3	3	160	1	0	0	0	0	1	0	0	0	1004	739	26	5	847	5	ARX	23	25031255	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	22623366	25031255	130239305	113	11402											
DMD	1756	broad.mit.edu	37	chrX	32305784	32305784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatgaataatgtcaatcCgacctgagctttgttgtaga	11	14	9	7	1	1	3	1	2	0	1	2	4	2	3	2	0	2	4	2	0	5	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:32305784C>T	ENST00000357033.4	-	43	6358	c.6152G>A	c.(6151-6153)cGg>cAg	p.R2051Q	DMD_ENST00000378677.2_Missense_Mutation_p.R2047Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2051					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATGTCAATCCGACCTGAGCT	0.348																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6151-6153)cGg>cAg		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							87	67	74					X																	32305784		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305784C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6152G>A	X.37:g.32305784C>T	ENSP00000354923:p.Arg2051Gln					DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	p.R2051Q	NM_004006	NP_004001	P11532	DMD_HUMAN			42	6396	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2051					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6152G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.108576	0.01813	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.52295	0.67;0.67	4.36	2.56	0.30785	.	0.276929	0.19581	U	0.110869	T	0.14743	0.0356	N	0.01242	-0.935	0.80722	D	1	B;B;B;B;B	0.14805	0.005;0.011;0.007;0.004;0.004	B;B;B;B;B	0.09377	0.002;0.004;0.003;0.002;0.001	T	0.05402	-1.0887	10	0.12766	T	0.61	.	4.3568	0.11183	0.0:0.4652:0.0:0.5348	.	2043;2051;2047;710;707	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	2043;710;707;2047;2051;2051;1928	ENSP00000367948:R2047Q;ENSP00000354923:R2051Q	ENSP00000354923:R2051Q	R	-	2	0	DMD	32215705	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	1.501000	0.35693	0.950000	0.37743	0.600000	0.82982	CGG		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32305784	C	T	32305784	3	4	160	1	0	0	0	0	1	0	0	0	4580	652	23	2	5201	2	DMD	23	32305784	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	7274529	32305784	122964776	114	11403											
RBM3	5935	broad.mit.edu	37	chrX	48433596	48433596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaggaaagctcttcGtgggagggctcaactttaac	12	9	12	8	1	2	2	1	1	1	1	3	4	2	4	0	3	3	2	0	3	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:48433596G>C	ENST00000376759.3	+	2	91	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L	AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000376755.1_Missense_Mutation_p.V10L|RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	10	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAAGCTCTTCGTGGGAGGGCT	0.502											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dkf.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(28-30)Gtg>Ctg		Homo sapiens RNA binding motif (RNP1, RRM) protein 3 (RBM3), mRNA.							76	55	62					X																	48433596		2203	4300	6503	SO:0001583	missense	5935				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding	g.chrX:48433596G>C	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.28G>C	X.37:g.48433596G>C	ENSP00000365950:p.Val10Leu		OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954		p.V10L	NM_006743	NP_006734	P98179	RBM3_HUMAN			1	262	+			10			RRM.			Missense_Mutation	SNP	ENST00000376759.3	37	c.28G>C	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050877	0.55218	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.33654	1.4;1.4	4.74	3.87	0.44632	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111340	0.37053	U	0.002276	T	0.45236	0.1332	M	0.79011	2.435	0.80722	D	1	B	0.31949	0.348	B	0.40410	0.328	T	0.47849	-0.9085	10	0.62326	D	0.03	-1.2767	10.2389	0.43299	0.1008:0.0:0.8992:0.0	.	10	P98179	RBM3_HUMAN	L	10	ENSP00000365950:V10L;ENSP00000365946:V10L	ENSP00000365946:V10L	V	+	1	0	RBM3	48318540	1.000000	0.71417	0.998000	0.56505	0.570000	0.35934	4.588000	0.60999	1.097000	0.41459	0.513000	0.50165	GTG		0.502	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743		C	48433596	G	C	48433596	3	2	160	1	0	0	0	0	1	0	0	0	13129	1145	40	5	30	5	RBM3	23	48433596	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	16127812	48433596	106836964	115	11404											
CLCN5	1184	broad.mit.edu	37	chrX	49851112	49851112	+	Frame_Shift_Del	DEL	A	A	-																															actattttatgtggagtttcAcaccccatggcatctctttg																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:49851112delA	ENST00000307367.2	+	8	1223	c.932delA	c.(931-933)cacfs	p.H311fs	CLCN5_ENST00000376088.3_Frame_Shift_Del_p.H381fs|CLCN5_ENST00000376091.3_Frame_Shift_Del_p.H381fs|CLCN5_ENST00000376108.3_Frame_Shift_Del_p.H311fs			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	311					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGGAGTTTCACACCCCATGG	0.498																																						uc004dos.1																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(931-933)cacfs		Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.							100	76	84					X																	49851112		2203	4300	6503	SO:0001589	frameshift_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851112delA	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.932delA	X.37:g.49851112delA	ENSP00000304257:p.His311fs					CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	p.H311fs	NM_000084	NP_000075	P51795	CLCN5_HUMAN			7	1180	+	Ovarian(276;0.236)		311					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Frame_Shift_Del	DEL	ENST00000307367.2	37	c.932delA	CCDS14328.1																																																																																				0.498	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			-	49851112	A	-	49851112	7	5	160	1	0	1	0	1	0	0	0	0	3466	159	6	0	1176	0	CLCN5	23	49851112	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	1417516	49851112	105419448	116	11405											
USP51	158880	broad.mit.edu	37	chrX	55513943	55513943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgcagttacagcagttgGggttattggcctcctgccca	7	12	12	10	0	0	1	0	1	0	0	1	1	1	1	3	3	4	5	3	3	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:55513943G>A	ENST00000500968.3	-	2	1512	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	477	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ACAGCAGTTGGGGTTATTGGC	0.478																																						uc022bxu.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1429-1431)cCc>cTc		Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.							151	112	126					X																	55513943		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513943G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1430C>T	X.37:g.55513943G>A	ENSP00000423333:p.Pro477Leu					USP51_uc004dun.2_Missense_Mutation_p.P477L	p.P477L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			0	1430	-			477					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1430C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	6.878	0.531355	0.13127	.	.	ENSG00000247746	ENST00000500968	T	0.28454	1.61	3.04	2.17	0.27698	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.608492	0.17242	U	0.181518	T	0.27027	0.0662	L	0.56340	1.77	0.58432	D	0.999997	B	0.20459	0.045	B	0.23852	0.049	T	0.05920	-1.0856	10	0.38643	T	0.18	.	7.6254	0.28210	0.1388:0.0:0.8612:0.0	.	477	Q70EK9	UBP51_HUMAN	L	477	ENSP00000423333:P477L	ENSP00000423333:P477L	P	-	2	0	USP51	55530668	1.000000	0.71417	0.753000	0.31225	0.804000	0.45430	4.327000	0.59247	0.683000	0.31428	0.508000	0.49915	CCC		0.478	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		A	55513943	G	A	55513943	3	1	160	1	0	0	0	0	1	0	0	0	17080	1232	43	3	709	3	USP51	23	55513943	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	5662831	55513943	99756617	117	11406											
NRK	203447	broad.mit.edu	37	chrX	105159747	105159747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagatctccttctgtgcCtaacaaccaggatcatgcac	12	9	8	12	0	3	2	1	0	2	2	4	4	3	3	3	1	4	1	3	1	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:105159747C>T	ENST00000243300.9	+	15	2678	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	NRK_ENST00000428173.2_Missense_Mutation_p.P793L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	792					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCTTCTGTGCCTAACAACCAG	0.313										HNSCC(51;0.14)																												uc004emd.3																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(2374-2376)cCt>cTt		Homo sapiens Nik related kinase (NRK), mRNA.							126	110	115					X																	105159747		1861	4075	5936	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105159747C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2375C>T	X.37:g.105159747C>T	ENSP00000434830:p.Pro792Leu	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P460L	p.P792L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			14	2678	+			792					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2375C>T		.	.	.	.	.	.	.	.	.	.	C	11.20	1.567621	0.28003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	D;D	0.87809	-2.29;-2.3	5.09	2.84	0.33178	.	0.000000	0.43747	D	0.000537	T	0.73923	0.3649	N	0.14661	0.345	0.09310	N	1	P;B	0.46784	0.884;0.421	B;B	0.42916	0.402;0.039	T	0.67960	-0.5535	10	0.87932	D	0	.	3.6439	0.08177	0.0:0.5787:0.2451:0.1762	.	460;792	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	792;793	ENSP00000434830:P792L;ENSP00000438378:P793L	ENSP00000434830:P792L	P	+	2	0	NRK	105046403	0.284000	0.24287	0.345000	0.25642	0.069000	0.16628	2.050000	0.41297	0.998000	0.38996	0.594000	0.82650	CCT		0.313	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105159747	C	T	105159747	3	4	160	1	0	0	0	0	1	0	0	0	10655	681	24	3	2433	3	NRK	23	105159747	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49645804	105159747	50110813	118	11407											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	10	9	9	13	1	1	2	0	2	1	0	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592																																						uc004epp.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(274-276)Cgc>Tgc		Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.							141	125	130					X																	111914414		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914414G>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.205C>T	X.37:g.111914414G>A	ENSP00000361036:p.Arg69Cys					LHFPL1_uc004epq.3_Missense_Mutation_p.R69C|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.R69C	p.R92C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN			0	347	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.274C>T	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861972	0.71949	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73152	-0.72;-0.72	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.83944	0.0313	10	0.49607	T	0.09	-29.645	10.2057	0.43112	0.0:0.0:0.8026:0.1974	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	69	ENSP00000361036:R69C;ENSP00000444573:R69C	ENSP00000361036:R69C	R	-	1	0	LHFPL1	111801070	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.553000	0.53713	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		A	111914414	G	A	111914414	3	1	160	1	0	0	0	0	1	0	0	0	8764	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6754667	111914414	43356146	119	11408											
HTR2C	3358	broad.mit.edu	37	chrX	114082719	114082719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagccgtttcaattcgcGgactaaggccatcatgaaga	12	9	10	10	3	2	2	2	1	0	1	3	3	2	3	2	2	1	2	2	2	4	4	rs376838998		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:114082719G>A	ENST00000276198.1	+	5	1231	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.R168Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	168					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R168Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCAATTCGCGGACTAAGGCC	0.408																																						uc004epu.1																			1	Substitution - Missense(1)	p.R168Q(2)|p.S167L(1)	endometrium(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(502-504)cGg>cAg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						125	105	112					X																	114082719		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082719G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.503G>A	X.37:g.114082719G>A	ENSP00000276198:p.Arg168Gln					HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	p.R168Q	NM_000868	NP_000859	P28335	5HT2C_HUMAN			4	1231	+			168					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.503G>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468007	0.84533	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.72282	-0.64;-0.64	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.81163	0.4765	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.79621	-0.1727	10	0.28530	T	0.3	.	13.6882	0.62529	0.0:0.0:1.0:0.0	.	168	P28335	5HT2C_HUMAN	Q	168	ENSP00000276198:R168Q;ENSP00000361019:R168Q	ENSP00000276198:R168Q	R	+	2	0	HTR2C	113988975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.584000	0.67490	1.793000	0.52555	0.600000	0.82982	CGG		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		A	114082719	G	A	114082719	3	1	160	1	0	0	0	0	1	0	0	0	7443	1116	39	2	513	2	HTR2C	23	114082719	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2168305	114082719	41187841	120	11409											
MAGEC3	139081	broad.mit.edu	37	chrX	140985023	140985023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaagaagtataaggactaTtttcccatgatcttcgggaa	14	12	8	7	1	2	2	1	1	1	1	4	4	3	4	1	2	0	1	1	2	6	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:140985023T>C	ENST00000298296.1	+	7	1479	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	MAGEC3_ENST00000409007.1_Silent_p.Y195Y|MAGEC3_ENST00000544766.1_Silent_p.Y195Y|MAGEC3_ENST00000536088.1_Silent_p.Y195Y|MAGEC3_ENST00000443323.2_Silent_p.Y115Y	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	493	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGGACTATTTTCCCATGA	0.438																																						uc011mwp.2																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1477-1479)taT>taC		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.							130	126	127					X																	140985023		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985023T>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1479T>C	X.37:g.140985023T>C						MAGEC3_uc004fbs.3_Silent_p.Y195Y|MAGEC3_uc010nsj.3_Silent_p.Y195Y|MAGEC3_uc022cfh.1_Silent_p.Y195Y	p.Y493Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			6	1479	+	Acute lymphoblastic leukemia(192;6.56e-05)		493			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1479T>C	CCDS14676.1																																																																																				0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		C	140985023	T	C	140985023	2	2	160	1	0	0	0	0	0	0	0	1	9182	1500	52	4		4	MAGEC3	23	140985023	Silent	SNP	T	TCGA-19-2631-01A-01D-1353-08	26902304	140985023	14285537	121	11410											
MTMR1	8776	broad.mit.edu	37	chrX	149924177	149924177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgtatatacaaagaCgatatctttatggtcgtata	14	14	8	5	2	2	1	1	0	1	1	3	3	2	2	0	2	1	2	0	2	8	8			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:149924177C>T	ENST00000370390.3	+	14	1830	c.1673C>T	c.(1672-1674)aCg>aTg	p.T558M	MTMR1_ENST00000544228.1_Missense_Mutation_p.T558M|MTMR1_ENST00000541925.1_Missense_Mutation_p.T464M|MTMR1_ENST00000445323.2_Missense_Mutation_p.T566M|MTMR1_ENST00000538506.1_3'UTR	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	558	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TATACAAAGACGATATCTTTA	0.323																																						uc004feh.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1696-1698)aCg>aTg		Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.							105	94	98					X																	149924177		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149924177C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1673C>T	X.37:g.149924177C>T	ENSP00000359417:p.Thr558Met					MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004fei.3_Missense_Mutation_p.T558M|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	p.T566M	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			14	1832	+	Acute lymphoblastic leukemia(192;6.56e-05)		558			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1697C>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338433	0.60963	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.51	5.51	0.81932	Myotubularin phosphatase domain (1);	0.043517	0.85682	D	0.000000	D	0.97458	0.9168	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.98660	1.0683	10	0.87932	D	0	.	18.4259	0.90608	0.0:1.0:0.0:0.0	.	558;566	Q13613;F8WA39	MTMR1_HUMAN;.	M	464;558;566;558	ENSP00000441879:T464M;ENSP00000359417:T558M;ENSP00000414178:T566M;ENSP00000440534:T558M	ENSP00000359417:T558M	T	+	2	0	MTMR1	149674835	1.000000	0.71417	0.544000	0.28141	0.391000	0.30476	5.717000	0.68446	2.292000	0.77174	0.600000	0.82982	ACG		0.323	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		T	149924177	C	T	149924177	3	4	160	1	0	0	0	0	1	0	0	0	9938	536	19	1	1727	1	MTMR1	23	149924177	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	8939154	149924177	5346383	122	11411											
FAM3A	60343	broad.mit.edu	37	chrX	153736149	153736149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgcaactcacctccggcCcacatgtcaaaggcccgggc	8	5	10	18	3	2	0	2	0	0	0	3	0	3	0	4	3	2	2	4	3	2	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:153736149C>A	ENST00000447601.2	-	6	844	c.378G>T	c.(376-378)tgG>tgT	p.W126C	FAM3A_ENST00000393572.1_Missense_Mutation_p.W88C|FAM3A_ENST00000369641.3_Missense_Mutation_p.W133C|FAM3A_ENST00000369643.1_Missense_Mutation_p.W126C|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000359889.5_Missense_Mutation_p.W126C|FAM3A_ENST00000434658.2_Intron	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	126						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTCCGGCCCACATGTCAA	0.627																																						uc004flt.2																			0				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(418-420)tgG>tgT		Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA.							15	12	13					X																	153736149		2181	4282	6463	SO:0001583	missense	60343					extracellular region		g.chrX:153736149C>A	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.378G>T	X.37:g.153736149C>A	ENSP00000416146:p.Trp126Cys					FAM3A_uc011mzp.2_Intron|FAM3A_uc022cih.1_Missense_Mutation_p.W88C|FAM3A_uc004flw.2_Missense_Mutation_p.W126C|FAM3A_uc004fls.2_Missense_Mutation_p.W126C	p.W140C	NM_001171133	NP_001164604	P98173	FAM3A_HUMAN			6	946	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		126					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	c.420G>T	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312361	0.60414	.	.	ENSG00000071889	ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266	T;T;T;T;T;T	0.58652	0.61;0.61;0.61;1.89;0.32;1.83	5.19	5.19	0.71726	.	0.117609	0.64402	D	0.000007	T	0.64516	0.2605	M	0.80183	2.485	0.80722	D	1	B;B	0.20887	0.04;0.049	B;B	0.28232	0.06;0.087	T	0.66602	-0.5882	10	0.72032	D	0.01	-18.194	16.5103	0.84282	0.0:1.0:0.0:0.0	.	140;126	D3DWX8;P98173	.;FAM3A_HUMAN	C	126;126;126;133;88;133	ENSP00000352955:W126C;ENSP00000358657:W126C;ENSP00000416146:W126C;ENSP00000358655:W133C;ENSP00000377202:W88C;ENSP00000396845:W133C	ENSP00000352955:W126C	W	-	3	0	FAM3A	153389343	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.667000	0.68067	2.154000	0.67381	0.529000	0.55759	TGG		0.627	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			A	153736149	C	A	153736149	3	1	160	1	0	0	0	0	1	0	0	0	5556	624	22	5	330	5	FAM3A	23	153736149	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	3811972	153736149	1534411	123	11412											
CHD5	26038	broad.mit.edu	37	chr1	6181182	6181182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctctcggcagctgctccGgggagggcggggccttctcc	4	7	15	15	3	2	0	0	0	2	0	5	1	3	1	4	6	3	3	4	6	1	1	rs201640978	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:6181182G>A	ENST00000262450.3	-	33	4994	c.4895C>T	c.(4894-4896)cCg>cTg	p.P1632L	CHD5_ENST00000378021.1_Missense_Mutation_p.P489L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGCTGCTCCGGGGAGGGCGG	0.652													G|||	2	0.000399361	0	0.0014	5008	,	,		15078	0		0.001	False		,,,				2504	0					uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4894-4896)cCg>cTg		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							22	27	25					1																	6181182		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181182G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4895C>T	1.37:g.6181182G>A	ENSP00000262450:p.Pro1632Leu					CHD5_uc001alz.2_Missense_Mutation_p.P489L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.P1632L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	32	5006	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1632					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4895C>T	CCDS57.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	g	12.62	1.992332	0.35131	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90504	-2.68;2.27	4.78	4.78	0.61160	.	0.000000	0.64402	U	0.000002	T	0.81312	0.4796	N	0.19112	0.55	0.49299	D	0.99977	P;P	0.39404	0.524;0.672	B;B	0.20184	0.019;0.028	D	0.84130	0.0411	10	0.52906	T	0.07	-26.9676	17.2033	0.86912	0.0:0.0:1.0:0.0	.	1632;489	Q8TDI0;Q5TG85	CHD5_HUMAN;.	L	1632;489;1040;1040;489	ENSP00000262450:P1632L;ENSP00000367260:P489L	ENSP00000262450:P1632L	P	-	2	0	CHD5	6103769	0.084000	0.21492	0.997000	0.53966	0.043000	0.13939	1.671000	0.37513	2.370000	0.80446	0.472000	0.43445	CCG		0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6181182	G	A	6181182	3	1	161	1	0	0	0	0	1	0	0	0	3328	1116	39	2	1005	2	CHD5	1	6181182	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		6181182	243069439	1	11413											
RORC	6097	broad.mit.edu	37	chr1	151789268	151789268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgttacagcgctggctcCggcggaagaagccctgggga	7	5	16	13	5	0	1	0	0	0	1	1	3	1	3	3	5	3	3	3	5	3	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:151789268C>T	ENST00000318247.6	-	4	277	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RORC_ENST00000356728.6_Missense_Mutation_p.R36Q|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.R111Q	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	57					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCTGGCTCCGGCGGAAGAA	0.637																																						uc001ezh.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(169-171)cGg>cAg		Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.							32	27	29					1																	151789268		2199	4298	6497	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151789268C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.170G>A	1.37:g.151789268C>T	ENSP00000327025:p.Arg57Gln					RORC_uc001ezg.3_Missense_Mutation_p.R36Q|RORC_uc010pdo.2_Missense_Mutation_p.R111Q|RORC_uc010pdp.2_Missense_Mutation_p.R57Q	p.R57Q	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	278	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		57					Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.170G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454104	0.96223	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.98958	-5.27;-5.27;-5.27	5.24	5.24	0.73138	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	U	0.000009	D	0.99594	0.9853	H	0.99182	4.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97612	1.0130	10	0.87932	D	0	.	16.3321	0.83039	0.0:1.0:0.0:0.0	.	57;111;57;36	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Q	36;111;57	ENSP00000349164:R36Q;ENSP00000376461:R111Q;ENSP00000327025:R57Q	ENSP00000327025:R57Q	R	-	2	0	RORC	150055892	0.999000	0.42202	0.997000	0.53966	0.864000	0.49448	7.813000	0.86123	2.436000	0.82500	0.563000	0.77884	CGG		0.637	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			T	151789268	C	T	151789268	3	4	161	1	0	0	0	0	1	0	0	0	13530	652	23	2	1418	2	RORC	1	151789268	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	145608086	151789268	97461353	2	11414											
RPTN	126638	broad.mit.edu	37	chr1	152127687	152127687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccctgtccctggttttGgtacccttcctgtcctggag	4	14	10	13	0	0	0	0	0	0	0	4	2	4	1	5	3	1	2	5	3	2	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:152127687G>T	ENST00000316073.3	-	3	1952	c.1888C>A	c.(1888-1890)Caa>Aaa	p.Q630K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	630	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGGTTTTGGTACCCTTCC	0.498																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1888-1890)Caa>Aaa		Homo sapiens repetin (RPTN), mRNA.							229	193	204					1																	152127687		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127687G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1888C>A	1.37:g.152127687G>T	ENSP00000317895:p.Gln630Lys						p.Q630K	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1953	-			630			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1888C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070856	0.07228	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12672	2.66	4.06	1.98	0.26296	.	.	.	.	.	T	0.02848	0.0085	L	0.43152	1.355	0.09310	N	1	B	0.30406	0.278	B	0.27887	0.084	T	0.40421	-0.9564	9	0.06757	T	0.87	-0.2415	9.2482	0.37539	0.0:0.0:0.4617:0.5383	.	630	Q6XPR3	RPTN_HUMAN	K	630;285	ENSP00000317895:Q630K	ENSP00000317895:Q630K	Q	-	1	0	RPTN	150394311	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.632000	0.24583	0.943000	0.37553	-0.234000	0.12200	CAA		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152127687	G	T	152127687	3	4	161	1	0	0	0	0	1	0	0	0	13664	1357	47	5	470	5	RPTN	1	152127687	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	338419	152127687	97122934	3	11415											
HMCN1	83872	broad.mit.edu	37	chr1	185958748	185958748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaatacagccggctaCgccaaaaggaaagtgcagct	14	4	10	13	2	0	0	0	0	0	0	0	1	0	1	4	2	5	3	4	2	6	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:185958748C>T	ENST00000271588.4	+	21	3406	c.3177C>T	c.(3175-3177)taC>taT	p.Y1059Y	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.Y1059Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1059	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCCGGCTACGCCAAAAGGA	0.483																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3175-3177)taC>taT		Homo sapiens hemicentin 1 (HMCN1), mRNA.							93	89	91					1																	185958748		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185958748C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3177C>T	1.37:g.185958748C>T						HMCN1_uc001grr.1_Silent_p.Y400Y	p.Y1059Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			20	3406	+			1059			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3177C>T	CCDS30956.1																																																																																				0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185958748	C	T	185958748	2	4	161	1	0	0	0	0	0	0	0	1	7220	547	19	1		1	HMCN1	1	185958748	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	33831061	185958748	63291873	4	11416											
IGFN1	91156	broad.mit.edu	37	chr1	201182690	201182690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagagaggagagatgctaCccggagttccacatccagat	12	7	13	9	1	0	3	0	0	0	3	2	8	2	6	3	3	2	2	3	3	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:201182690C>T	ENST00000335211.4	+	12	8799	c.8669C>T	c.(8668-8670)aCc>aTc	p.T2890I	IGFN1_ENST00000451870.2_Missense_Mutation_p.T433I|IGFN1_ENST00000295591.8_Missense_Mutation_p.T50I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	433						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGATGCTACCCGGAGTTCC	0.562																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8668-8670)aCc>aTc		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							88	83	84					1																	201182690		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201182690C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8669C>T	1.37:g.201182690C>T	ENSP00000334714:p.Thr2890Ile					IGFN1_uc001gwb.3_Non-coding_Transcript	p.T2890I	NM_001164586	NP_001158058					11	8799	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8669C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155373	0.57259	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.62498	0.4;0.02;0.65	3.01	-0.259	0.12971	.	1.517440	0.04996	U	0.468214	T	0.53867	0.1823	L	0.34521	1.04	0.09310	N	1	P	0.36048	0.534	B	0.40506	0.331	T	0.45716	-0.9242	10	0.38643	T	0.18	.	7.4468	0.27215	0.1771:0.2994:0.5235:0.0	.	2890	F8WAI1	.	I	2890;433;50	ENSP00000334714:T2890I;ENSP00000398386:T433I;ENSP00000295591:T50I	ENSP00000295591:T50I	T	+	2	0	IGFN1	199449313	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.000000	0.12993	-0.300000	0.08895	0.491000	0.48974	ACC		0.562	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201182690	C	T	201182690	3	4	161	1	0	0	0	0	1	0	0	0	7590	507	18	3	8711	3	IGFN1	1	201182690	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	15223942	201182690	48067931	5	11417											
GTF2A1L	3973	broad.mit.edu	37	chr2	48960045	48960045	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaggcattcccaagaaGgacatcgtttaacacctaaa	15	7	7	12	2	0	1	0	0	0	1	2	3	1	2	3	2	1	2	3	2	6	4	rs374481158		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:48960045G>C	ENST00000294954.7	-	2	183				STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor						activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCCCAAGAAGGACATCGTTT	0.363																																						uc021vhf.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91								Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 2, mRNA.		G	,	0,3720		0,0,1860	145	130	135		,	3.7	0	2		135	1,8187		0,1,4093	no	intron,intron	LHCGR,STON1-GTF2A1L	NM_000233.3,NM_001198593.1	,	0,1,5953	CC,CG,GG		0.0122,0.0,0.0084	,	,	48960045	1,11907	1860	4094	5954	SO:0001627	intron_variant	11036				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48960045G>C		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.162-1608C>G	2.37:g.48960045G>C						LHCGR_uc002rwu.4_Intron|LHCGR_uc002rwv.2_Intron		NM_001198593	NP_001185522	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)				+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)						Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37		CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231445	0.22626	0.0	1.22E-4	ENSG00000242441	ENST00000508440	.	.	.	5.84	3.72	0.42706	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	.	8.8145	0.34987	0.1962:0.0:0.8038:0.0	.	.	.	.	T	97	.	.	R	+	2	0	GTF2A1L	48813549	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.114000	0.15520	1.477000	0.48234	0.655000	0.94253	AGG		0.363	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		C	48960045	G	C	48960045	1	2	161	0	1	0	0	0	0	0	0	0	6853	1000	35	5		5	GTF2A1L	2	48960045	Intron	SNP	G	TCGA-19-4068-01A-01D-1353-08		48960045	194239328	6	11418											
DPP10	57628	broad.mit.edu	37	chr2	116548904	116548904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaagattttatggacCgaaaccagtatgctcttctg	11	13	7	10	1	2	1	0	0	2	1	3	3	3	2	3	1	2	2	3	1	4	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:116548904C>T	ENST00000410059.1	+	19	2152	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.R508*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.R551*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.R562*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	558						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTATGGACCGAAACCAGTA	0.289																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1684-1686)Cga>Tga		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							94	97	96					2																	116548904		2203	4298	6501	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548904C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1672C>T	2.37:g.116548904C>T	ENSP00000386565:p.Arg558*					DPP10_uc002tla.2_Nonsense_Mutation_p.R558*|DPP10_uc002tlb.2_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.2_Nonsense_Mutation_p.R554*|DPP10_uc002tlf.2_Nonsense_Mutation_p.R551*	p.R562*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			18	1705	+			558					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.1684C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	40	8.330808	0.98764	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.54	2.6	0.31112	.	0.316995	0.31495	N	0.007545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-24.4944	9.7865	0.40679	0.238:0.6331:0.1289:0.0	.	.	.	.	X	558;508;562;551;508	.	ENSP00000309066:R551X	R	+	1	2	DPP10	116265374	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.438000	0.35002	0.366000	0.24427	0.650000	0.86243	CGA		0.289	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		T	116548904	C	T	116548904	4	4	161	1	0	0	0	0	0	1	0	0	4727	644	23	2	1917	2	DPP10	2	116548904	Nonsense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	67588859	116548904	126650469	7	11419											
NCL	4691	broad.mit.edu	37	chr2	232325239	232325239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttctgtttggccattTccttctttcgttttccaggt	2	21	7	11	1	2	0	0	0	2	0	5	0	4	0	3	2	1	3	3	2	0	7			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:232325239T>C	ENST00000322723.4	-	5	1088	c.848A>G	c.(847-849)gAa>gGa	p.E283G	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	283					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGGCCATTTCCTTCTTTCG	0.433																																						uc002vru.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(847-849)gAa>gGa		Homo sapiens nucleolin (NCL), mRNA.							201	177	185					2																	232325239		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232325239T>C		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.848A>G	2.37:g.232325239T>C	ENSP00000318195:p.Glu283Gly					SNORD82_uc010fxw.1_5'Flank	p.E283G	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	4	989	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	283					Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.848A>G	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198255	0.79015	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.25085	1.82	5.36	5.36	0.76844	.	0.141244	0.64402	D	0.000005	T	0.48995	0.1531	M	0.75264	2.295	0.80722	D	1	D	0.67145	0.996	P	0.62740	0.906	T	0.53837	-0.8382	10	0.87932	D	0	-16.4532	14.5804	0.68284	0.0:0.0:0.0:1.0	.	283	P19338	NUCL_HUMAN	G	283;175	ENSP00000318195:E283G	ENSP00000318195:E283G	E	-	2	0	NCL	232033483	1.000000	0.71417	0.941000	0.38009	0.493000	0.33554	6.870000	0.75526	2.033000	0.60031	0.524000	0.50904	GAA		0.433	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		C	232325239	T	C	232325239	3	2	161	1	0	0	0	0	1	0	0	0	10226	1783	62	4	1324	4	NCL	2	232325239	Missense_Mutation	SNP	T	TCGA-19-4068-01A-01D-1353-08	115776335	232325239	10874134	8	11420											
SUSD5	26032	broad.mit.edu	37	chr3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtggttgccatgatcGttgaggggatgtggttaggt	5	13	19	4	1	0	2	0	2	0	0	1	3	0	3	1	6	1	4	1	6	1	3	rs372702857		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:33194586G>A	ENST00000309558.3	-	5	1955	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	513					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		21630	0		0	False		,,,				2504	0					uc003cfo.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1537-1539)aCg>aTg		Homo sapiens sushi domain containing 5 (SUSD5), mRNA.		G	MET/THR	3,4107		0,3,2052	171	181	177		1538	2.8	0	3		177	0,8410		0,0,4205	no	missense	SUSD5	NM_015551.1	81	0,3,6257	AA,AG,GG		0.0,0.073,0.024	possibly-damaging	513/630	33194586	3,12517	2055	4205	6260	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194586G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1538C>T	3.37:g.33194586G>A	ENSP00000308727:p.Thr513Met						p.T513M	NM_015551	NP_056366	O60279	SUSD5_HUMAN			4	1956	-			513						Missense_Mutation	SNP	ENST00000309558.3	37	c.1538C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.994069	0.19043	7.3E-4	0.0	ENSG00000173705	ENST00000309558	T	0.08193	3.12	5.56	2.75	0.32379	.	0.843298	0.10411	N	0.677863	T	0.14830	0.0358	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.53689	0.732	T	0.18429	-1.0337	10	0.39692	T	0.17	-6.4031	5.0228	0.14370	0.0719:0.3327:0.4103:0.1852	.	513	O60279	SUSD5_HUMAN	M	513	ENSP00000308727:T513M	ENSP00000308727:T513M	T	-	2	0	SUSD5	33169590	0.067000	0.21026	0.015000	0.15790	0.253000	0.25986	1.843000	0.39259	0.280000	0.22209	-0.133000	0.14855	ACG		0.522	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		A	33194586	G	A	33194586	3	1	161	1	0	0	0	0	1	0	0	0	15408	1145	40	1	355	1	SUSD5	3	33194586	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		33194586	164827844	9	11421											
VILL	50853	broad.mit.edu	37	chr3	38048114	38048114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgccacgatcaacGggggcctgcgccgggaacaa	10	2	14	15	5	1	0	1	0	0	0	1	2	1	1	4	3	4	1	4	3	3	0	rs376387498		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:38048114G>T	ENST00000283713.6	+	19	2646	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	VILL_ENST00000383759.2_Missense_Mutation_p.G794W|VILL_ENST00000465644.1_Missense_Mutation_p.G512W			O15195	VILL_HUMAN	villin-like	794	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACGATCAACGGGGGCCTGCG	0.672																																						uc003chj.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2380-2382)Ggg>Tgg		Homo sapiens villin-like (VILL), mRNA.							28	34	32					3																	38048114		2202	4296	6498	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048114G>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2380G>T	3.37:g.38048114G>T	ENSP00000283713:p.Gly794Trp					VILL_uc003chl.3_Missense_Mutation_p.G794W	p.G794W	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	18	2666	+			794			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2380G>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	g	13.28	2.191082	0.38707	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.15603	2.5;2.5;2.41	4.19	0.15	0.14883	Villin headpiece (3);	1.006310	0.07981	N	0.985590	T	0.28433	0.0703	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.31833	-0.9929	10	0.44086	T	0.13	-9.9622	8.6807	0.34207	0.3641:0.0:0.6359:0.0	.	794	O15195	VILL_HUMAN	W	794;794;780;512	ENSP00000283713:G794W;ENSP00000373266:G794W;ENSP00000422096:G512W	ENSP00000283713:G794W	G	+	1	0	VILL	38023118	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	1.560000	0.36331	0.055000	0.16094	-0.378000	0.06908	GGG		0.672	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		T	38048114	G	T	38048114	3	4	161	1	0	0	0	0	1	0	0	0	17162	1116	39	5	2450	5	VILL	3	38048114	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	4853528	38048114	159974316	10	11422											
SHISA5	51246	broad.mit.edu	37	chr3	48510545	48510545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatccatgtaggccgggttGtaaggaggctggctggcggg	6	8	19	8	2	0	0	0	0	0	0	1	1	1	1	2	7	0	6	2	7	2	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:48510545G>A	ENST00000296444.2	-	6	1020	c.684C>T	c.(682-684)taC>taT	p.Y228Y	SHISA5_ENST00000444115.1_Silent_p.Y197Y|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000442747.1_Silent_p.Y197Y|SHISA5_ENST00000443308.2_Silent_p.Y221Y|SHISA5_ENST00000426002.1_Silent_p.Y125Y	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	228	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						AGGCCGGGTTGTAAGGAGGCT	0.637																																						uc003ctp.1																			0				large_intestine(1)|lung(1)	2						c.(682-684)taC>taT		Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.							53	54	54					3																	48510545		2203	4300	6503	SO:0001819	synonymous_variant	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48510545G>A	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"Shisa homologs"	30376	protein-coding gene	gene with protein product		607290	"shisa homolog 5 (Xenopus laevis)"			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.684C>T	3.37:g.48510545G>A						SHISA5_uc003ctm.2_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc011bbl.2_Silent_p.Y126Y|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.3_3'UTR	p.Y228Y	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			5	818	-			228			Pro-rich.		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	ENST00000296444.2	37	c.684C>T	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.108034	0.20714	.	.	ENSG00000164054	ENST00000536074	.	.	.	5.05	2.24	0.28232	.	.	.	.	.	T	0.63141	0.2486	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63435	-0.6638	5	0.87932	D	0	-14.7121	7.7368	0.28819	0.2855:0.0:0.7145:0.0	.	.	.	.	I	49	.	ENSP00000445956:T49I	T	-	2	0	SHISA5	48485549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.114000	0.41911	0.642000	0.30620	0.563000	0.77884	ACA		0.637	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		A	48510545	G	A	48510545	2	1	161	1	0	0	0	0	0	0	0	1	14283	1372	48	3		3	SHISA5	3	48510545	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	10462431	48510545	149511885	11	11423											
POC1A	25886	broad.mit.edu	37	chr3	52156395	52156395	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgccaagccacttacCagattccccatggagctggc	9	8	9	15	0	0	1	0	0	0	1	1	2	1	2	6	2	5	1	6	2	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:52156395C>T	ENST00000296484.2	-	9	1020	c.981G>A	c.(979-981)ctG>ctA	p.L327L	POC1A_ENST00000474012.1_Splice_Site_p.L289L|POC1A_ENST00000394970.2_Splice_Site_p.L327L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	327					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGCCACTTACCAGATTCCCCA	0.547																																						uc003dcu.3																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.e9+1		Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.							64	60	61					3																	52156395		2203	4300	6503	SO:0001630	splice_region_variant	25886					centriole|microtubule basal body		g.chr3:52156395C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.981+1G>A	3.37:g.52156395C>T						POC1A_uc003dcv.3_Splice_Site_p.L289_splice|POC1A_uc003dcw.3_Splice_Site_p.L327_splice	p.L327_splice	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN			9	1299	-			327					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.981_splice	CCDS2846.1																																																																																				0.547	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426	Silent	T	52156395	C	T	52156395	5	4	161	1	0	0	0	0	0	0	1	0	12175	608	21	3	254	3	POC1A	3	52156395	Splice_Site	SNP	C	TCGA-19-4068-01A-01D-1353-08	3645850	52156395	145866035	12	11424											
EPHA6	285220	broad.mit.edu	37	chr3	97124120	97124120	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaagtactatgagaaagTaggtcttatttggagcttcc	12	13	10	6	0	2	1	1	1	1	1	3	4	3	2	1	2	2	3	1	2	6	6			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:97124120T>A	ENST00000389672.5	+	6	1769		c.e6+2			NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGAGAAAGTAGGTCTTATT	0.353																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.e6+2		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							56	52	53					3																	97124120		1830	4075	5905	SO:0001630	splice_region_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97124120T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1731+2T>A	3.37:g.97124120T>A							p.K577_splice	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			6	1774	+			482					D6RAL5	Splice_Site	SNP	ENST00000389672.5	37	c.1731_splice	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742208	0.89573	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA6	98606810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.542000	0.82095	2.123000	0.65237	0.528000	0.53228	.		0.353	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	Intron	A	97124120	T	A	97124120	5	1	161	1	0	0	0	0	0	0	1	0	5171	1652	57	5	1755	5	EPHA6	3	97124120	Splice_Site	SNP	T	TCGA-19-4068-01A-01D-1353-08	44967725	97124120	100898310	13	11425											
IMPG2	50939	broad.mit.edu	37	chr3	100964883	100964883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggaccagagctgaaatCaagtggtggaatactgctgg	12	7	16	6	0	1	2	1	1	0	1	1	5	1	5	1	5	3	2	1	5	4	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:100964883C>G	ENST00000193391.7	-	12	1493	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	436					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GAGCTGAAATCAAGTGGTGGA	0.468																																						uc003duq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1306-1308)Gat>Cat		Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.							96	107	103					3																	100964883		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964883C>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1306G>C	3.37:g.100964883C>G	ENSP00000193391:p.Asp436His					IMPG2_uc011bhe.2_Missense_Mutation_p.D299H	p.D436H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			11	1509	-			436					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1306G>C	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408752	0.83340	.	.	ENSG00000081148	ENST00000193391	T	0.32515	1.45	6.03	6.03	0.97812	.	0.215436	0.39985	N	0.001217	T	0.44159	0.1280	L	0.27053	0.805	0.34146	D	0.666948	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.909	T	0.52609	-0.8553	10	0.72032	D	0.01	-5.6416	18.7374	0.91761	0.0:1.0:0.0:0.0	.	436;436	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	H	436	ENSP00000193391:D436H	ENSP00000193391:D436H	D	-	1	0	IMPG2	102447573	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.168000	0.50801	2.861000	0.98227	0.655000	0.94253	GAT		0.468	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			G	100964883	C	G	100964883	3	3	161	1	0	0	0	0	1	0	0	0	7729	826	29	5	2451	5	IMPG2	3	100964883	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	3840763	100964883	97057547	14	11426											
CASR	846	broad.mit.edu	37	chr3	122003194	122003194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagtcccggaagctgcCggagaacttcaatgaagcca	12	7	10	12	2	2	2	2	1	0	1	3	4	3	3	3	2	4	1	3	2	5	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:122003194C>T	ENST00000490131.1	+	7	2765	c.2393C>T	c.(2392-2394)cCg>cTg	p.P798L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.P808L|CASR_ENST00000296154.5_Missense_Mutation_p.P798L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	798					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGAAGCTGCCGGAGAACTTC	0.552																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2422-2424)cCg>cTg		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						55	53	53					3																	122003194		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003194C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2393C>T	3.37:g.122003194C>T	ENSP00000418685:p.Pro798Leu					CASR_uc003eev.4_Missense_Mutation_p.P798L	p.P808L	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	2861	+			798					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2423C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280344	0.80692	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89875	-2.58;-2.58;-2.58	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97612	1.0130	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	808;798	E7ENE0;P41180	.;CASR_HUMAN	L	798;808;798	ENSP00000418685:P798L;ENSP00000420194:P808L;ENSP00000296154:P798L	ENSP00000296154:P798L	P	+	2	0	CASR	123485884	1.000000	0.71417	0.974000	0.42286	0.932000	0.56968	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCG		0.552	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122003194	C	T	122003194	3	4	161	1	0	0	0	0	1	0	0	0	2682	652	23	2	2445	2	CASR	3	122003194	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	21038311	122003194	76019236	15	11427											
PLXNA1	5361	broad.mit.edu	37	chr3	126708342	126708342	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgagttccccattggctgCgagcaggcgggtgtggagta	6	10	17	8	2	0	1	0	1	0	0	1	3	1	2	2	4	2	5	2	4	1	4	rs372794860	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:126708342C>T	ENST00000393409.2	+	1	906	c.906C>T	c.(904-906)tgC>tgT	p.C302C	PLXNA1_ENST00000251772.4_Silent_p.C279C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	302	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATTGGCTGCGAGCAGGCGG	0.662													C|||	17	0.00339457	0	0	5008	,	,		18615	0.0169		0	False		,,,				2504	0					uc003ejg.3																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(904-906)tgC>tgT		Homo sapiens plexin A1 (PLXNA1), mRNA.		C		0,4404		0,0,2202	140	146	144		906	-3.8	0.9	3		144	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		302/1897	126708342	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708342C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.906C>T	3.37:g.126708342C>T							p.C302C	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	0	906	+			302			Sema.			Silent	SNP	ENST00000393409.2	37	c.906C>T	CCDS33847.2																																																																																				0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126708342	C	T	126708342	2	4	161	1	0	0	0	0	0	0	0	1	12119	776	27	1		1	PLXNA1	3	126708342	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	4705148	126708342	71314088	16	11428											
THPO	7066	broad.mit.edu	37	chr3	184090840	184090840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggtgggtggggcccGcctgacgcagagggtggacc	5	6	20	10	2	0	2	0	1	0	1	0	3	0	3	3	6	1	2	3	6	0	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:184090840G>A	ENST00000204615.7	-	6	737	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.R171W	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	175					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGGGCCCGCCTGACGCAG	0.562																																						uc003fol.1																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(523-525)Cgg>Tgg		Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.							76	81	79					3																	184090840		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090840G>A		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.523C>T	3.37:g.184090840G>A	ENSP00000204615:p.Arg175Trp					THPO_uc003fom.2_Missense_Mutation_p.R171W|THPO_uc021xii.1_Missense_Mutation_p.A169V|THPO_uc003fon.3_Intron|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Intron|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	p.R175W	NM_000460	NP_000451	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	738	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		175					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.523C>T	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.236677	0.58886	.	.	ENSG00000090534	ENST00000204615;ENST00000445696	T;T	0.47869	0.83;0.83	4.32	4.32	0.51571	Four-helical cytokine, core (1);	0.337248	0.21781	N	0.069204	T	0.47040	0.1424	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57425	0.725;0.82	T	0.51718	-0.8670	10	0.87932	D	0	-10.7468	12.1905	0.54268	0.0:0.0:1.0:0.0	.	171;175	P40225-2;P40225	.;TPO_HUMAN	W	175;171	ENSP00000204615:R175W;ENSP00000410763:R171W	ENSP00000204615:R175W	R	-	1	2	THPO	185573534	1.000000	0.71417	0.802000	0.32245	0.665000	0.39181	2.734000	0.47368	2.240000	0.73641	0.454000	0.30748	CGG		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		A	184090840	G	A	184090840	3	1	161	1	0	0	0	0	1	0	0	0	15869	1087	38	1	542	1	THPO	3	184090840	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	57382498	184090840	13931590	17	11429											
DEFB131	644414	broad.mit.edu	37	chr4	9452176	9452176	+	Frame_Shift_Del	DEL	G	G	-																															tgaacatgcaattagatactGtgctgacttcagcatctgct																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr4:9452176delG	ENST00000334879.1	+	2	149	c.149delG	c.(148-150)tgtfs	p.C50fs		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	50					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						ATTAGATACTGTGCTGACTTC	0.383																																						uc011bwt.2																			0				lung(2)	2						c.(148-150)tgtfs		Homo sapiens defensin, beta 131 (DEFB131), mRNA.							43	35	38					4																	9452176		1855	4098	5953	SO:0001589	frameshift_variant	644414				defense response to bacterium	extracellular region		g.chr4:9452176delG	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"Defensins, beta"	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.149delG	4.37:g.9452176delG	ENSP00000335538:p.Cys50fs						p.C50fs	NM_001040448	NP_001035538	P59861	DB131_HUMAN			1	149	+			50						Frame_Shift_Del	DEL	ENST00000334879.1	37	c.149delG	CCDS43213.1																																																																																				0.383	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448		-	9452176	G	-	9452176	7	5	161	1	0	1	0	1	0	0	0	0	4416	1377	48	0	155	0	DEFB131	4	9452176	Frame_Shift_Del	DEL	G	TCGA-19-4068-01A-01D-1353-08		9452176	181702100	18	11430											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163559	163559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagagaagaagctcccGctgtggcagcatgccaggag	11	4	14	12	1	0	2	0	0	0	2	1	4	1	3	3	2	3	4	3	2	2	0	rs114260538	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:163559G>A	ENST00000283426.6	+	11	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652													G|||	4	0.000798722	0	0.0029	5008	,	,		15776	0.001		0	False		,,,				2504	0.001					uc003jak.2																			1	Substitution - coding silent(1)	p.P768P(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2302-2304)ccG>ccA		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.		G		0,4404		0,0,2202	34	40	38		2304	-1.1	0	5	dbSNP_132	38	1,8595		0,1,4297	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		768/1272	163559	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163559G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2304G>A	5.37:g.163559G>A							p.P768P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	2354	+			768						Silent	SNP	ENST00000283426.6	37	c.2304G>A	CCDS34124.1																																																																																				0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	163559	G	A	163559	2	1	161	1	0	0	0	0	0	0	0	1	12072	1074	38	1		1	PLEKHG4B	5	163559	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		163559	180751701	19	11431											
MAST4	375449	broad.mit.edu	37	chr5	65892596	65892596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctctccgggtgcttcctCggccgagtcctcctcgggct	1	11	12	17	4	1	0	0	0	1	0	8	1	5	0	6	3	1	2	6	3	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:65892596C>T	ENST00000403625.2	+	1	408	c.113C>T	c.(112-114)tCg>tTg	p.S38L	MAST4_ENST00000404260.3_Missense_Mutation_p.S38L|MAST4_ENST00000406039.1_Missense_Mutation_p.S38L|MAST4_ENST00000406374.1_Missense_Mutation_p.S38L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	38						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGTGCTTCCTCGGCCGAGTCC	0.731																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(112-114)tCg>tTg		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							6	7	7					5																	65892596		1752	3929	5681	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:65892596C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.113C>T	5.37:g.65892596C>T	ENSP00000385727:p.Ser38Leu					MAST4_uc010iwz.3_Missense_Mutation_p.S38L|MAST4_uc003jur.4_Missense_Mutation_p.S38L	p.S38L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	0	421	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	38					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.113C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014506	0.75161	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039	T;T;T;T	0.66099	-0.19;-0.19;1.24;1.26	3.44	3.44	0.39384	.	0.705128	0.11681	U	0.539871	T	0.58509	0.2127	N	0.19112	0.55	0.25642	N	0.986194	D;D	0.64830	0.994;0.994	P;P	0.53224	0.721;0.721	T	0.52449	-0.8574	10	0.87932	D	0	.	11.8764	0.52550	0.0:1.0:0.0:0.0	.	38;38	E7EX28;O15021-4	.;.	L	38	ENSP00000385048:S38L;ENSP00000385727:S38L;ENSP00000385088:S38L;ENSP00000384547:S38L	ENSP00000385727:S38L	S	+	2	0	MAST4	65928352	0.536000	0.26378	0.988000	0.46212	0.890000	0.51754	1.111000	0.31159	1.760000	0.52011	0.305000	0.20034	TCG		0.731	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	65892596	C	T	65892596	3	4	161	1	0	0	0	0	1	0	0	0	9327	893	31	2	115	2	MAST4	5	65892596	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	65729037	65892596	115022664	20	11432											
TAF9	6880	broad.mit.edu	37	chr5	68647987	68647987	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgggcagctgatgcacGatttcttccttgtaggatgc	7	14	11	9	1	1	1	0	1	1	0	2	3	2	2	1	2	4	4	1	2	2	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:68647987G>T	ENST00000380822.4	-	5	471	c.420C>A	c.(418-420)atC>atA	p.I140I	TAF9_ENST00000380818.3_Silent_p.I137I|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000512561.1_Silent_p.I109I	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGATGCACGATTTCTTCCT	0.373																																						uc003jwa.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(418-420)atC>atA		Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.							102	94	97					5																	68647987		2202	4300	6502	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68647987G>T	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.420C>A	5.37:g.68647987G>T						TAF9_uc003jwb.3_Silent_p.I137I	p.I140I	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	4	512	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	140					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000380822.4	37	c.420C>A	CCDS4001.1																																																																																				0.373	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216793.1	NM_003187		T	68647987	G	T	68647987	2	4	161	1	0	0	0	0	0	0	0	1	15532	1048	37	5		5	TAF9	5	68647987	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	2755391	68647987	112267273	21	11433											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794118	101794138	+	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA	-																															acataaatccttgatattagTtccaagtttcagatctttaa																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	ENST00000506729.1	-	6	1250_1270	c.1079_1099delTTAAAGATCTGAAACTTGGAA	c.(1078-1101)cttaaagatctgaaacttggaact>cct	p.360_367LKDLKLGT>P	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_In_Frame_Del_p.298_305LKDLKLGT>P|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_In_Frame_Del_p.360_367LKDLKLGT>P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	360						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC	0.285																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1078-1101)cttaaagatctgaaacttggaact>cct		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.																																				SO:0001651	inframe_deletion	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1079_1099delTTAAAGATCTGAAACTTGGAA	5.37:g.101794118_101794138delTTCCAAGTTTCAGATCTTTAA	ENSP00000421339:p.Leu360_Thr367delinsPro					SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.3_In_Frame_Del_p.298_305LKDLKLGT>P	p.360_367LKDLKLGT>P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	5	1251_1271	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	360					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	In_Frame_Del	DEL	ENST00000506729.1	37	c.1079_1099delTTAAAGATCTGAAACTTGGAA	CCDS34206.1																																																																																				0.285	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		-	101794138	TTCCAAGTTTCAGATCTTTAA	-	101794118	7	5	161	1	0	1	0	1	0	0	0	0	14732	1725	60	0	1092	0	SLCO6A1	5	101794118	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TCGA-19-4068-01A-01D-1353-08	33146131	101794118	79121142	22	11434											
SEC24A	10802	broad.mit.edu	37	chr5	134033601	134033601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggttgtatttctcGgtattcagcaggtagtgtct	6	17	10	8	1	4	0	1	0	3	0	6	0	5	0	1	3	1	5	1	3	3	7			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:134033601G>A	ENST00000398844.2	+	15	2408	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	707					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATTTCTCGGTATTCAGCA	0.383																																						uc003kzs.3																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2119-2121)cGg>cAg		Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.							220	202	208					5																	134033601		1922	4130	6052	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134033601G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2120G>A	5.37:g.134033601G>A	ENSP00000381823:p.Arg707Gln					SEC24A_uc011cxu.2_Missense_Mutation_p.R471Q	p.R707Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2412	+			707					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2120G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522301	0.96431	.	.	ENSG00000113615	ENST00000398844	T	0.25085	1.82	5.6	5.6	0.85130	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	M	0.62723	1.935	0.80722	D	1	P;D	0.56287	0.872;0.975	B;P	0.48141	0.192;0.568	T	0.05007	-1.0912	10	0.33141	T	0.24	-12.9266	19.6088	0.95594	0.0:0.0:1.0:0.0	.	471;707	B4E205;O95486	.;SC24A_HUMAN	Q	707	ENSP00000381823:R707Q	ENSP00000381823:R707Q	R	+	2	0	SEC24A	134061500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.762000	0.98944	2.636000	0.89361	0.467000	0.42956	CGG		0.383	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			A	134033601	G	A	134033601	3	1	161	1	0	0	0	0	1	0	0	0	13994	1116	39	2	2178	2	SEC24A	5	134033601	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	32239483	134033601	46881659	23	11435											
SH3RF2	153769	broad.mit.edu	37	chr5	145435652	145435652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttcagaaggtgatccacgGcaaagccgtcccttcaaatc	12	9	8	12	2	2	2	2	1	0	1	5	2	4	2	3	2	1	1	3	2	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000359120.4_Silent_p.R477R|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).		negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562																																						uc003lnt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1429-1431)cgG>cgA		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							136	129	132					5																	145435652		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145435652G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1431G>A	5.37:g.145435652G>A						SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	p.R477R	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1669	+			477		R -> Q (in dbSNP:rs35165046).			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1431G>A	CCDS4280.1																																																																																				0.562	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		A	145435652	G	A	145435652	2	1	161	1	0	0	0	0	0	0	0	1	14259	1190	42	3		3	SH3RF2	5	145435652	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	11402051	145435652	35479608	24	11436											
TRIM41	90933	broad.mit.edu	37	chr5	180651777	180651777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacaaacagcacagcGtggtgccattggaggaggtg	11	5	16	9	1	0	0	0	0	0	0	0	3	0	3	2	5	5	1	2	5	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:180651777G>A	ENST00000315073.5	+	1	1488	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.V260M	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	260					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCACAGCGTGGTGCCATT	0.552																																						uc003mne.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(778-780)Gtg>Atg		Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.							76	67	70					5																	180651777		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651777G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.778G>A	5.37:g.180651777G>A	ENSP00000320869:p.Val260Met					TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.2_Missense_Mutation_p.V260M|TRIM41_uc003mnd.2_Missense_Mutation_p.V260M|TRIM41_uc003mnf.2_Non-coding_Transcript	p.V260M	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		0	1515	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	260					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.778G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546881	0.45383	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.51817	0.69;0.69	5.08	5.08	0.68730	Zinc finger, B-box (3);	0.000000	0.48767	D	0.000173	T	0.60676	0.2287	L	0.49455	1.56	0.30492	N	0.7713	D;P;P	0.89917	1.0;0.88;0.88	D;B;B	0.79784	0.993;0.363;0.294	T	0.62067	-0.6932	10	0.52906	T	0.07	.	11.8191	0.52228	0.0:0.177:0.823:0.0	.	260;260;260	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	M	260;260;139	ENSP00000336749:V260M;ENSP00000320869:V260M	ENSP00000320869:V260M	V	+	1	0	TRIM41	180584383	0.931000	0.31567	1.000000	0.80357	0.995000	0.86356	2.765000	0.47621	2.345000	0.79718	0.491000	0.48974	GTG		0.552	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		A	180651777	G	A	180651777	3	1	161	1	0	0	0	0	1	0	0	0	16513	1145	40	1	780	1	TRIM41	5	180651777	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	35216125	180651777	263483	25	11437											
MCM3	4172	broad.mit.edu	37	chr6	52141940	52141940	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtggtggggatagctcGgggtgcagtgcaaagcacat	9	7	17	8	1	0	0	0	0	0	0	1	1	0	1	1	5	4	4	1	5	2	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:52141940G>A	ENST00000229854.7	-	8	1166	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MCM3_ENST00000596288.1_Nonsense_Mutation_p.R409*|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Nonsense_Mutation_p.R318*			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	364	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGGATAGCTCGGGGTGCAGTG	0.597																																						uc003pan.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1090-1092)Cga>Tga		Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.							60	60	60					6																	52141940		2203	4300	6503	SO:0001587	stop_gained	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141940G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1090C>T	6.37:g.52141940G>A	ENSP00000229854:p.Arg364*					MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	p.R364*	NM_002388	NP_002379	P25205	MCM3_HUMAN			7	1200	-	Lung NSC(77;0.0931)		364			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Nonsense_Mutation	SNP	ENST00000229854.7	37	c.1090C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.473340	0.97594	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	.	.	.	5.22	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.4865	14.0232	0.64571	0.0:0.0:0.7159:0.284	.	.	.	.	X	364;318	.	ENSP00000229854:R364X	R	-	1	2	MCM3	52249899	1.000000	0.71417	0.921000	0.36526	0.991000	0.79684	2.978000	0.49305	0.712000	0.32039	0.655000	0.94253	CGA		0.597	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			A	52141940	G	A	52141940	4	1	161	1	0	0	0	0	0	1	0	0	9387	1124	39	2	1376	2	MCM3	6	52141940	Nonsense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		52141940	118973127	26	11438											
BMP5	653	broad.mit.edu	37	chr6	55684540	55684540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggtccttgtatatcCggaattcagctgctgtcact	6	14	9	12	2	2	0	2	0	0	0	5	1	5	1	3	2	3	4	3	2	3	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:55684540C>T	ENST00000370830.3	-	2	1294	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R199Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	199					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGTATATCCGGAATTCAGC	0.368																																						uc003pcq.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(595-597)cGg>cAg		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.							110	103	106					6																	55684540		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684540C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.596G>A	6.37:g.55684540C>T	ENSP00000359866:p.Arg199Gln					BMP5_uc011dxf.2_Missense_Mutation_p.R199Q	p.R199Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1308	-	Lung NSC(77;0.0462)		199					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.596G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384724	0.95967	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.73469	-0.75;-0.75	5.74	5.74	0.90152	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84615	0.5511	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85289	0.1066	10	0.87932	D	0	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	199;199	B4E0Y4;P22003	.;BMP5_HUMAN	Q	199	ENSP00000359866:R199Q;ENSP00000391818:R199Q	ENSP00000359866:R199Q	R	-	2	0	BMP5	55792499	1.000000	0.71417	0.932000	0.37286	0.947000	0.59692	7.487000	0.81328	2.712000	0.92718	0.650000	0.86243	CGG		0.368	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			T	55684540	C	T	55684540	3	4	161	1	0	0	0	0	1	0	0	0	1463	652	23	2	792	2	BMP5	6	55684540	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	3542600	55684540	115430527	27	11439											
NOX3	50508	broad.mit.edu	37	chr6	155764472	155764472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcccagcttggaaagtgCggccagaagtccctgggcct	7	8	14	12	1	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	2	2	rs142034685		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:155764472C>T	ENST00000159060.2	-	5	523	c.421G>A	c.(421-423)Gca>Aca	p.A141T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	141	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTGGAAAGTGCGGCCAGAAGT	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		14574	0		0	False		,,,				2504	0					uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(421-423)Gca>Aca		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.		C	THR/ALA	0,4406		0,0,2203	120	99	106		421	2.8	0.5	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOX3	NM_015718.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	141/569	155764472	1,13005	2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155764472C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.421G>A	6.37:g.155764472C>T	ENSP00000159060:p.Ala141Thr						p.A141T	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	4	524	-		Breast(66;0.0183)	141			Ferric oxidoreductase.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.421G>A	CCDS5250.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.386	0.439422	0.12104	0.0	1.16E-4	ENSG00000074771	ENST00000159060	D	0.95482	-3.72	5.52	2.75	0.32379	Flavoprotein transmembrane component (1);	0.555369	0.17453	N	0.173710	T	0.81446	0.4824	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.70622	-0.4821	10	0.17369	T	0.5	-8.7208	6.2068	0.20608	0.0:0.6442:0.0:0.3558	.	141	Q9HBY0	NOX3_HUMAN	T	141	ENSP00000159060:A141T	ENSP00000159060:A141T	A	-	1	0	NOX3	155806164	0.013000	0.17824	0.466000	0.27168	0.135000	0.20990	2.218000	0.42889	1.324000	0.45282	0.561000	0.74099	GCA		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			T	155764472	C	T	155764472	3	4	161	1	0	0	0	0	1	0	0	0	10557	768	27	1	1321	1	NOX3	6	155764472	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	100079932	155764472	15350595	28	11440											
DTX2	113878	broad.mit.edu	37	chr7	76109950	76109950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccgtctgcagcttcAtcgagcagcagtttgtccag	7	10	11	13	2	2	0	1	0	1	0	4	1	3	0	3	0	5	5	3	0	0	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:76109950A>G	ENST00000324432.5	+	4	634	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	DTX2_ENST00000446600.1_Intron|DTX2_ENST00000413936.2_Missense_Mutation_p.I42V|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Missense_Mutation_p.I42V|DTX2_ENST00000307569.8_Missense_Mutation_p.I42V|DTX2_ENST00000446820.2_Missense_Mutation_p.I42V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	42	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTGCAGCTTCATCGAGCAGCA	0.662																																						uc011kgk.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27								Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.							39	38	38					7																	76109950		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76109950A>G		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.124A>G	7.37:g.76109950A>G	ENSP00000322885:p.Ile42Val					DTX2_uc003uff.4_Missense_Mutation_p.I42V|DTX2_uc003ufg.4_Missense_Mutation_p.I42V|DTX2_uc003ufh.4_Missense_Mutation_p.I42V|DTX2_uc003ufj.4_Missense_Mutation_p.I42V		NM_020892	NP_065943	Q86UW9	DTX2_HUMAN					+								Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37		CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.052377	0.55218	.	.	ENSG00000091073	ENST00000425780;ENST00000324432;ENST00000307569;ENST00000457529;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.68	5.68	0.88126	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	L	0.58101	1.795	0.58432	D	0.999998	D;D	0.71674	0.988;0.998	P;D	0.71414	0.844;0.973	T	0.76356	-0.2989	10	0.52906	T	0.07	-31.253	15.093	0.72211	1.0:0.0:0.0:0.0	.	42;42	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	V	42	ENSP00000407398:I42V;ENSP00000322885:I42V;ENSP00000305242:I42V;ENSP00000390881:I42V;ENSP00000390218:I42V;ENSP00000415838:I42V;ENSP00000387894:I42V;ENSP00000411986:I42V;ENSP00000403342:I42V;ENSP00000399639:I42V;ENSP00000392545:I42V	ENSP00000305242:I42V	I	+	1	0	AC005522.1	75947886	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	8.919000	0.92770	2.166000	0.68216	0.460000	0.39030	ATC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			G	76109950	A	G	76109950	3	3	161	1	0	0	0	0	1	0	0	0	4794	217	8	4	126	4	DTX2	7	76109950	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08		76109950	83028713	29	11441											
CALCR	799	broad.mit.edu	37	chr7	93067382	93067382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattctcaccacaagtgccGccatgacaggtccatggatt	11	10	8	12	1	1	1	1	1	1	0	3	2	2	2	4	2	1	0	4	2	2	3	rs527875590		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:93067382G>A	ENST00000394441.1	-	10	1235	c.920C>T	c.(919-921)gCg>gTg	p.A307V	CALCR_ENST00000359558.2_Missense_Mutation_p.A341V|CALCR_ENST00000360249.4_Missense_Mutation_p.A323V|CALCR_ENST00000421592.1_Missense_Mutation_p.A323V|CALCR_ENST00000426151.1_Missense_Mutation_p.A307V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	341					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A341V(1)|p.A307V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CACAAGTGCCGCCATGACAGG	0.348													G|||	1	0.000199681	0	0	5008	,	,		19838	0		0	False		,,,				2504	0.001					uc003umv.2																			2	Substitution - Missense(2)	p.A341V(1)|p.A307V(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1021-1023)gCg>gTg		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						73	69	70					7																	93067382		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93067382G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.920C>T	7.37:g.93067382G>A	ENSP00000377959:p.Ala307Val					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V	p.A341V	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		12	1322	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		323					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1022C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221564	0.39300	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	4.67	0.705	0.18127	.	.	.	.	.	T	0.31358	0.0794	L	0.53729	1.69	0.51482	D	0.999922	P;B	0.40909	0.732;0.075	B;B	0.39876	0.312;0.045	T	0.06373	-1.0830	9	0.49607	T	0.09	.	8.6301	0.33915	0.1237:0.1272:0.7491:0.0	.	341;307	F5H605;A4D1G6	.;.	V	341;323;323;307;307	ENSP00000352561:A341V;ENSP00000353385:A323V;ENSP00000399552:A323V;ENSP00000377959:A307V;ENSP00000389295:A307V	ENSP00000352561:A341V	A	-	2	0	CALCR	92905318	1.000000	0.71417	0.202000	0.23494	0.501000	0.33797	3.324000	0.52022	0.018000	0.15052	0.655000	0.94253	GCG		0.348	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93067382	G	A	93067382	3	1	161	1	0	0	0	0	1	0	0	0	2579	1087	38	1	520	1	CALCR	7	93067382	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	16957432	93067382	66071281	30	11442											
LAMB1	3912	broad.mit.edu	37	chr7	107600245	107600245	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccgttgggatcacacacGgaacttaacgaaccctgagg	11	7	10	13	3	1	1	1	1	0	0	2	4	2	3	3	3	3	1	3	3	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:107600245G>A	ENST00000222399.6	-	19	2579	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S	LAMB1_ENST00000393560.1_Silent_p.S783S|LAMB1_ENST00000393561.1_Silent_p.S807S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	783	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GATCACACACGGAACTTAACG	0.572																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2419-2421)tcC>tcT		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50	43	46					7																	107600245		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600245G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2349C>T	7.37:g.107600245G>A						LAMB1_uc003vew.2_Silent_p.S783S|LAMB1_uc003vex.3_Silent_p.S783S	p.S807S	NM_002291	NP_002282	P07942	LAMB1_HUMAN			16	2582	-			783			Laminin EGF-like 6.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.2421C>T	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107600245	G	A	107600245	2	1	161	1	0	0	0	0	0	0	0	1	8610	1103	39	2		2	LAMB1	7	107600245	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	14532863	107600245	51538418	31	11443											
TRYX3	136541	broad.mit.edu	37	chr7	141955123	141955123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaacccccaatatcaccCgaagctttctggaacaatat	13	11	5	12	1	2	0	1	0	1	0	2	2	2	1	3	1	3	2	3	1	7	5	rs138718517		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:141955123C>T	ENST00000552471.1	-	3	507	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	PRSS58_ENST00000547058.2_Missense_Mutation_p.R63Q			Q8IYP2	PRS58_HUMAN	protease, serine, 58	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R63L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAATATCACCCGAAGCTTTCT	0.428																																						uc003vxb.3																			1	Substitution - Missense(1)	p.R63L(2)|p.L62P(1)	lung(1)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(187-189)cGg>cAg		Homo sapiens protease, serine, 58 (PRSS58), mRNA.							119	114	116					7																	141955123		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955123C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.188G>A	7.37:g.141955123C>T	ENSP00000446916:p.Arg63Gln					PRSS58_uc003vxc.4_Missense_Mutation_p.R63Q	p.R63Q	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			2	508	-			63			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.188G>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	0.697	-0.792369	0.02884	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88431	-2.38;-2.38	4.63	-9.27	0.00659	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.57125	0.2032	N	0.01624	-0.795	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	T	0.57130	-0.7864	9	0.02654	T	1	.	1.3154	0.02106	0.1808:0.3004:0.2921:0.2267	.	63	Q8IYP2	PRS58_HUMAN	Q	63	ENSP00000447588:R63Q;ENSP00000446916:R63Q	ENSP00000307206:R63Q	R	-	2	0	PRSS58	141601600	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.401000	0.02502	-3.101000	0.00244	-0.315000	0.08773	CGG		0.428	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		T	141955123	C	T	141955123	3	4	161	1	0	0	0	0	1	0	0	0	16601	652	23	2	549	2	TRYX3	7	141955123	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	34354878	141955123	17183540	32	11444											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24251644	24251644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagaggaaattaccaCgaaacctgagaacatggtag	17	5	12	7	1	0	3	0	1	0	3	0	7	0	4	2	3	3	1	2	3	5	2	rs201994292	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:24251644C>G	ENST00000256412.4	+	4	567	c.347C>G	c.(346-348)aCg>aGg	p.T116R	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.T37R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.T37R	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	116					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAATTACCACGAAACCTGAG	0.463																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(346-348)aCg>aGg		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							78	74	75					8																	24251644		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24251644C>G	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.347C>G	8.37:g.24251644C>G	ENSP00000256412:p.Thr116Arg					ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	p.T116R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	3	567	+		Prostate(55;0.0181)	116					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.347C>G	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	2.983	-0.209822	0.06140	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.05786	3.39;3.39;3.39	5.46	1.37	0.22104	Peptidase M12B, propeptide (1);	0.840931	0.10506	N	0.666723	T	0.08758	0.0217	L	0.44542	1.39	0.09310	N	1	P	0.37955	0.612	B	0.42214	0.38	T	0.32241	-0.9914	10	0.52906	T	0.07	-2.4905	9.691	0.40127	0.0:0.5135:0.3995:0.087	.	116	O15204	ADEC1_HUMAN	R	116;37;37	ENSP00000256412:T116R;ENSP00000442592:T37R;ENSP00000428993:T37R	ENSP00000256412:T116R	T	+	2	0	ADAMDEC1	24307589	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.182000	0.09726	0.341000	0.23771	-0.222000	0.12452	ACG		0.463	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		G	24251644	C	G	24251644	3	3	161	1	0	0	0	0	1	0	0	0	254	536	19	5	361	5	ADAMDEC1	8	24251644	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		24251644	122112378	33	11445											
FZD3	7976	broad.mit.edu	37	chr8	28385048	28385048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttcttcattggatttttGcttgaagatcgagtagcctg	8	18	9	6	1	2	2	1	1	1	1	3	4	2	3	1	1	2	2	1	1	2	8			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:28385048G>A	ENST00000240093.3	+	5	1249	c.771G>A	c.(769-771)ttG>ttA	p.L257L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Silent_p.L257L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	257					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTGGATTTTTGCTTGAAGATC	0.378																																						uc003xgx.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(769-771)ttG>ttA		Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.							89	91	91					8																	28385048		2203	4299	6502	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385048G>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.771G>A	8.37:g.28385048G>A						FZD3_uc010lvb.3_Silent_p.L257L	p.L257L	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	4	1300	+		Ovarian(32;2.06e-05)	257					A8K615	Silent	SNP	ENST00000240093.3	37	c.771G>A	CCDS6069.1																																																																																				0.378	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		A	28385048	G	A	28385048	2	1	161	1	0	0	0	0	0	0	0	1	6131	1310	46	3		3	FZD3	8	28385048	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	4133404	28385048	117978974	34	11446											
GPR124	25960	broad.mit.edu	37	chr8	37693258	37693258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcaagaggcgtggcGtggccacccccgtcatcttc	5	7	14	15	3	2	1	1	0	1	1	3	1	2	1	4	5	0	1	4	5	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:37693258G>A	ENST00000412232.2	+	13	2033	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	674					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGCGTGGCGTGGCCACCCC	0.652																																						uc003xkj.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2020-2022)Gtg>Atg		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							38	41	40					8																	37693258		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693258G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2020G>A	8.37:g.37693258G>A	ENSP00000406367:p.Val674Met					GPR124_uc010lvy.3_Intron	p.V674M	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	2406	+			674					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2020G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	34	5.305345	0.95601	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.62941	-0.01	5.29	5.29	0.74685	.	0.072573	0.56097	D	0.000038	T	0.76579	0.4007	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.79004	-0.1980	10	0.87932	D	0	-16.3131	18.9399	0.92601	0.0:0.0:1.0:0.0	.	674	Q96PE1	GP124_HUMAN	M	667;674	ENSP00000406367:V674M	ENSP00000406367:V674M	V	+	1	0	GPR124	37812416	1.000000	0.71417	0.974000	0.42286	0.858000	0.48976	7.373000	0.79623	2.497000	0.84241	0.655000	0.94253	GTG		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			A	37693258	G	A	37693258	3	1	161	1	0	0	0	0	1	0	0	0	6638	1145	40	1	2049	1	GPR124	8	37693258	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	9308210	37693258	108670764	35	11447											
C8orf84	157869	broad.mit.edu	37	chr8	73993342	73993342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcagggcgccccgccGttctgaggctcctgctgcac	3	7	16	15	3	1	1	0	1	1	0	2	1	2	1	4	4	2	5	4	4	0	1	rs200404302		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:73993342G>A	ENST00000297354.6	-	2	525	c.321C>T	c.(319-321)aaC>aaT	p.N107N	RP11-956J14.1_ENST00000442274.1_RNA|SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	107	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										GCGCCCCGCCGTTCTGAGGCT	0.657																																						uc003xzf.3																			0											c.(319-321)aaC>aaT		Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.							65	75	72					8																	73993342		1999	4157	6156	SO:0001819	synonymous_variant	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73993342G>A		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.321C>T	8.37:g.73993342G>A							p.N107N	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			1	526	-			107			TSP type-1.		A8KAA5|Q96J64	Silent	SNP	ENST00000297354.6	37	c.321C>T	CCDS43747.2																																																																																				0.657	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		A	73993342	G	A	73993342	2	1	161	1	0	0	0	0	0	0	0	1	2440	1136	40	1		1	C8orf84	8	73993342	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	36300084	73993342	72370680	36	11448											
VPS13B	157680	broad.mit.edu	37	chr8	100874087	100874087	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaggagcactacaacCggcaggaggagtggcggcgg	10	4	19	8	3	0	1	0	1	0	0	0	5	0	5	1	8	3	2	1	8	2	1	rs560723051		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:100874087C>A	ENST00000358544.2	+	58	11314	c.11203C>A	c.(11203-11205)Cgg>Agg	p.R3735R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3710R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3735					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTACAACCGGCAGGAGGA	0.657																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11203-11205)Cgg>Agg		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							38	27	31					8																	100874087		2198	4298	6496	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100874087C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11203C>A	8.37:g.100874087C>A						VPS13B_uc003yiw.3_Silent_p.R3710R	p.R3735R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		57	11314	+	Breast(36;3.73e-07)		3735					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.11203C>A	CCDS6280.1																																																																																				0.657	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100874087	C	A	100874087	2	1	161	1	0	0	0	0	0	0	0	1	17187	643	23	5		5	VPS13B	8	100874087	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	26880745	100874087	45489935	37	11449											
PKHD1L1	93035	broad.mit.edu	37	chr8	110463211	110463211	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctttcataggcacgggAgctgagcaagcctgtgaagt	9	10	12	10	1	1	2	1	2	0	0	2	3	2	3	2	2	3	3	2	2	3	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:110463211A>T	ENST00000378402.5	+	41	6287	c.6183A>T	c.(6181-6183)ggA>ggT	p.G2061G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2061	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGCACGGGAGCTGAGCAAG	0.458										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6181-6183)ggA>ggT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							89	98	95					8																	110463211		2067	4190	6257	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110463211A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6183A>T	8.37:g.110463211A>T		HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427		p.G2061G	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		40	6287	+			2061			IPT/TIG 13.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6183A>T	CCDS47911.1																																																																																				0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110463211	A	T	110463211	2	4	161	1	0	0	0	0	0	0	0	1	11972	291	11	5		5	PKHD1L1	8	110463211	Silent	SNP	A	TCGA-19-4068-01A-01D-1353-08	9589124	110463211	35900811	38	11450											
FLJ46321	389763	broad.mit.edu	37	chr9	84609453	84609453	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaaatggatgaagacCtctttgcagtggtttaataa	14	13	9	5	0	2	3	1	1	1	2	2	4	2	4	1	2	1	2	1	2	5	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:84609453C>A	ENST00000344803.2	+	4	4115	c.4068C>A	c.(4066-4068)acC>acA	p.T1356T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1356					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGATGAAGACCTCTTTGCAGT	0.433																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(4066-4068)acC>acA		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							27	24	25					9																	84609453		1851	4080	5931	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84609453C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4068C>A	9.37:g.84609453C>A							p.T1356T	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	4115	+			1356						Silent	SNP	ENST00000344803.2	37	c.4068C>A	CCDS47986.1																																																																																				0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84609453	C	A	84609453	2	1	161	1	0	0	0	0	0	0	0	1	5932	668	24	5		5	FLJ46321	9	84609453	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08		84609453	56603978	39	11451											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653179	130653179	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggtggtcttgttgccCacatcagctgagtagccagt	7	11	13	10	1	2	1	1	1	1	0	2	1	2	1	2	3	3	4	2	3	2	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:130653179C>A	ENST00000373146.1	-	5	620	c.441G>T	c.(439-441)gtG>gtT	p.V147V	ST6GALNAC6_ENST00000291839.5_Silent_p.V147V|ST6GALNAC6_ENST00000373144.3_Silent_p.V113V|ST6GALNAC6_ENST00000373141.1_Silent_p.V113V|ST6GALNAC6_ENST00000373142.1_Silent_p.V147V|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	147					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTGTTGCCCACATCAGCTG	0.607																																						uc004bsp.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(439-441)gtG>gtT		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.							95	87	90					9																	130653179		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653179C>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.441G>T	9.37:g.130653179C>A						ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript	p.V147V			Q969X2	SIA7F_HUMAN			4	560	-			147					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.441G>T	CCDS6882.1																																																																																				0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		A	130653179	C	A	130653179	2	1	161	1	0	0	0	0	0	0	0	1	15227	581	21	5		5	ST6GALNAC6	9	130653179	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	46043726	130653179	10560252	40	11452											
PLXDC2	84898	broad.mit.edu	37	chr10	20453469	20453469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgtccgatgcatttgtcGttgtccacaggatccaacaa	10	11	9	11	2	0	0	0	0	0	0	4	3	3	1	3	1	2	2	3	1	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:20453469G>A	ENST00000377252.4	+	7	1697	c.856G>A	c.(856-858)Gtt>Att	p.V286I	PLXDC2_ENST00000377242.3_Missense_Mutation_p.V237I|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	286					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCATTTGTCGTTGTCCACAG	0.443																																						uc001iqg.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(856-858)Gtt>Att		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							121	96	105					10																	20453469		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20453469G>A	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.856G>A	10.37:g.20453469G>A	ENSP00000366460:p.Val286Ile					PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.V286I	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			6	1493	+			286					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.856G>A	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726707	0.48833	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.77877	-1.13;-1.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	N	0.21508	0.67	0.80722	D	1	P;P	0.49961	0.93;0.885	B;B	0.38194	0.267;0.148	T	0.65829	-0.6073	10	0.02654	T	1	.	19.8381	0.96666	0.0:0.0:1.0:0.0	.	237;286	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	I	286;237;149;272	ENSP00000366460:V286I;ENSP00000366450:V237I	ENSP00000366446:V149I	V	+	1	0	PLXDC2	20493475	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.085000	0.76875	2.695000	0.91970	0.460000	0.39030	GTT		0.443	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		A	20453469	G	A	20453469	3	1	161	1	0	0	0	0	1	0	0	0	12118	1145	40	1	882	1	PLXDC2	10	20453469	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		20453469	115081278	41	11453											
MYO3A	53904	broad.mit.edu	37	chr10	26463063	26463063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actttggaacctacacttagCcaaaggtcaatttatcaaaa	16	11	5	9	0	2	0	2	0	0	0	2	1	2	1	2	2	3	0	2	2	8	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:26463063C>T	ENST00000265944.5	+	30	4036	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1290					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTACACTTAGCCAAAGGTCAA	0.428																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3868-3870)agC>agT		Homo sapiens myosin IIIA (MYO3A), mRNA.							65	70	68					10																	26463063		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463063C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3870C>T	10.37:g.26463063C>T						MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.S1290S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			29	4230	+			1290					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3870C>T	CCDS7148.1																																																																																				0.428	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26463063	C	T	26463063	2	4	161	1	0	0	0	0	0	0	0	1	10076	738	26	3		3	MYO3A	10	26463063	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	6009594	26463063	109071684	42	11454											
DKK1	22943	broad.mit.edu	37	chr10	54076434	54076434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagtgtgtaccaagcAtaggagaaaaggctctcatg	14	8	12	7	0	2	1	2	0	1	1	3	2	2	1	1	3	2	3	1	3	6	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:54076434A>G	ENST00000373970.3	+	4	807	c.668A>G	c.(667-669)cAt>cGt	p.H223R	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	223	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGTACCAAGCATAGGAGAAAA	0.463																																						uc001jjr.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(667-669)cAt>cGt		Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.							122	115	117					10																	54076434		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076434A>G		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.668A>G	10.37:g.54076434A>G	ENSP00000363081:p.His223Arg					LOC100506939_uc009xox.2_5'Flank	p.H223R	NM_012242	NP_036374	O94907	DKK1_HUMAN			3	822	+			223			DKK-type Cys-2.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.668A>G	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590139	0.46214	.	.	ENSG00000107984	ENST00000373970	T	0.44083	0.93	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33033	-0.9884	10	0.08179	T	0.78	-0.0894	16.0852	0.81042	1.0:0.0:0.0:0.0	.	223	O94907	DKK1_HUMAN	R	223	ENSP00000363081:H223R	ENSP00000363081:H223R	H	+	2	0	DKK1	53746440	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	CAT		0.463	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			G	54076434	A	G	54076434	3	3	161	1	0	0	0	0	1	0	0	0	4544	217	8	4	682	4	DKK1	10	54076434	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	27613371	54076434	81458313	43	11455											
TMEM26	219623	broad.mit.edu	37	chr10	63170245	63170245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgactgacttctcaaCgaagcacggactgccaatgc	10	9	8	14	2	2	2	1	2	2	0	3	4	2	3	2	1	4	1	2	1	3	2	rs199811582		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:63170245C>T	ENST00000399298.3	-	6	1310	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	314						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GACTTCTCAACGAAGCACGGA	0.557																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(940-942)tcG>tcA		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.		C		0,4100		0,0,2050	98	101	100		942	0.6	0	10		100	2,8402		0,2,4200	no	coding-synonymous	TMEM26	NM_178505.6		0,2,6250	TT,TC,CC		0.0238,0.0,0.016		314/369	63170245	2,12502	2050	4202	6252	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170245C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.942G>A	10.37:g.63170245C>T						TMEM26_uc001jlp.1_Non-coding_Transcript	p.S314S	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			5	1311	-	Prostate(12;0.0112)		314					Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.942G>A	CCDS41530.1																																																																																				0.557	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		T	63170245	C	T	63170245	2	4	161	1	0	0	0	0	0	0	0	1	16148	523	19	1		1	TMEM26	10	63170245	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	9093811	63170245	72364502	44	11456											
RUFY2	55680	broad.mit.edu	37	chr10	70154149	70154149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcaggccaaccagcAgcccaacaattactgctcct	12	8	5	16	0	2	0	2	0	0	0	3	0	3	0	4	1	6	2	4	1	4	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:70154149A>G	ENST00000602465.1	-	5	558	c.458T>C	c.(457-459)cTg>cCg	p.L153P	RUFY2_ENST00000388768.2_Missense_Mutation_p.L188P|RUFY2_ENST00000399200.2_Missense_Mutation_p.L119P|RUFY2_ENST00000454950.2_Missense_Mutation_p.L95P|RUFY2_ENST00000342616.4_Missense_Mutation_p.L153P|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	202	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCAACCAGCAGCCCAACAAT	0.383																																						uc001job.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(562-564)cTg>cCg		Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.							177	169	172					10																	70154149		2041	4203	6244	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70154149A>G	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.458T>C	10.37:g.70154149A>G	ENSP00000473462:p.Leu153Pro					RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.L119P|RUFY2_uc010qiw.2_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	p.L188P	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			4	890	-			202			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.563T>C		.	.	.	.	.	.	.	.	.	.	A	27.6	4.843781	0.91197	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	T;T;T;T	0.37915	1.17;2.49;1.17;1.17	5.54	5.54	0.83059	.	0.069579	0.64402	D	0.000014	T	0.65428	0.2690	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.71674	0.988;0.994;0.997;0.99;0.998	D;D;D;P;D	0.75020	0.94;0.985;0.967;0.885;0.959	T	0.72265	-0.4344	10	0.87932	D	0	.	15.8453	0.78883	1.0:0.0:0.0:0.0	.	95;153;153;119;188	B4DFR0;Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.;.	P	188;119;95;153	ENSP00000373420:L188P;ENSP00000382151:L119P;ENSP00000404986:L95P;ENSP00000341727:L153P	ENSP00000341727:L153P	L	-	2	0	RUFY2	69824155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.129000	0.94430	2.330000	0.79161	0.528000	0.53228	CTG		0.383	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		G	70154149	A	G	70154149	3	3	161	1	0	0	0	0	1	0	0	0	13739	188	7	4	1531	4	RUFY2	10	70154149	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	6983904	70154149	65380598	45	11457											
COL17A1	1308	broad.mit.edu	37	chr10	105815707	105815707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatagggcagtatgctcCtcctgatcctctccagctca	7	10	7	17	0	2	1	1	1	1	0	6	1	5	1	6	1	2	4	6	1	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:105815707C>A	ENST00000353479.5	-	18	1810	c.1520G>T	c.(1519-1521)aGg>aTg	p.R507M	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.R507M	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	507	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGTATGCTCCTCCTGATCCT	0.597																																						uc001kxr.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1519-1521)aGg>aTg		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							141	116	125					10																	105815707		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105815707C>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1520G>T	10.37:g.105815707C>A	ENSP00000340937:p.Arg507Met					COL17A1_uc010qqv.1_Missense_Mutation_p.R491M	p.R507M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	1689	-		Colorectal(252;0.103)|Breast(234;0.122)	507			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1520G>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484029	0.26598	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	T;T	0.45668	0.89;0.89	4.35	2.47	0.30058	.	1.387560	0.05245	N	0.512905	T	0.25195	0.0612	N	0.08118	0	0.09310	N	0.999998	B;B	0.22480	0.034;0.07	B;B	0.23018	0.043;0.037	T	0.25606	-1.0127	10	0.42905	T	0.14	4.6382	6.3179	0.21200	0.0:0.4913:0.2869:0.2218	.	507;507	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	M	507;507;491	ENSP00000340937:R507M;ENSP00000358748:R507M	ENSP00000340937:R507M	R	-	2	0	COL17A1	105805697	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.101000	0.15251	0.303000	0.22785	0.462000	0.41574	AGG		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105815707	C	A	105815707	3	1	161	1	0	0	0	0	1	0	0	0	3674	681	24	5	3129	5	COL17A1	10	105815707	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	35661558	105815707	29719040	46	11458											
UBQLN3	50613	broad.mit.edu	37	chr11	5529360	5529360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataagccggggatggcaGccagggaggctcagggattc	9	6	18	8	1	1	0	1	0	0	0	2	4	1	4	2	7	2	2	2	7	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:5529360G>A	ENST00000311659.4	-	2	1576	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	477										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGATGGCAGCCAGGGAGGC	0.552																																					Ovarian(72;684 1260 12332 41642 52180)	uc021qcw.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1429-1431)Ctg>Ttg		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							54	61	59					11																	5529360		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5529360G>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1429C>T	11.37:g.5529360G>A						HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L477L	p.L477L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	1429	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	477					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.1429C>T	CCDS7758.1																																																																																				0.552	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		A	5529360	G	A	5529360	2	1	161	1	0	0	0	0	0	0	0	1	16895	962	34	3		3	UBQLN3	11	5529360	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		5529360	129477156	47	11459											
DCHS1	8642	broad.mit.edu	37	chr11	6646055	6646055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgatcagtggcagagacGgagagaatggcactgcctgg	10	6	15	10	2	1	2	1	0	0	2	2	6	2	3	2	4	1	2	2	4	1	0	rs370143518		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:6646055G>A	ENST00000299441.3	-	20	7602	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2397	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557																																						uc001mem.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7189-7191)tcC>tcT		Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.							128	88	101					11																	6646055		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646055G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7191C>T	11.37:g.6646055G>A						DCHS1_uc021qdb.1_5'Flank	p.S2397S	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	19	7592	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2397			Cadherin 23.		O15098	Silent	SNP	ENST00000299441.3	37	c.7191C>T	CCDS7771.1																																																																																				0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6646055	G	A	6646055	2	1	161	1	0	0	0	0	0	0	0	1	4287	1103	39	2		2	DCHS1	11	6646055	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	1116695	6646055	128360461	48	11460											
RAG1	5896	broad.mit.edu	37	chr11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctttgtgatgccacccGtctggaagcctctcaaaatc	9	12	7	13	1	3	1	1	1	3	0	5	2	3	2	3	1	3	0	3	1	4	2	rs104894286		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:36597064G>A	ENST00000299440.5	+	2	2322	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507; dbSNP:rs104894286). {ECO:0000269|PubMed:18463379, ECO:0000269|PubMed:9630231}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	8e-04	0	5008	,	,		18590	0		0	False		,,,				2504	0				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM981696	RAG1	M	rs104894286	c.(2209-2211)cGt>cAt		Homo sapiens recombination activating gene 1 (RAG1), mRNA.		G	HIS/ARG	0,4404		0,0,2202	83	80	81	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2210	6.1	1	11	dbSNP_132	81	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG1	NM_000448.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	737/1044	36597064	1,12999	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597064G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2210G>A	11.37:g.36597064G>A	ENSP00000299440:p.Arg737His					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R737H	p.R737H	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	2210	+	all_lung(20;0.226)	all_hematologic(20;0.107)	737		R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2210G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542171	0.85917	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88664	-2.41;-2.41	6.13	6.13	0.99165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	H	0.96365	3.81	0.80722	A	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96968	0.9706	9	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	737	P15918	RAG1_HUMAN	H	737	ENSP00000434610:R737H;ENSP00000299440:R737H	ENSP00000299440:R737H	R	+	2	0	RAG1	36553640	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	CGT		0.502	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		A	36597064	G	A	36597064	3	1	161	1	0	0	0	0	1	0	0	0	13003	1145	40	1	2212	1	RAG1	11	36597064	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	29951009	36597064	98409452	49	11461											
OR5D18	219438	broad.mit.edu	37	chr11	55587399	55587399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatttcatttttaggatgCgtagtacaattctttttctt	9	20	5	7	1	3	0	1	0	2	0	3	1	3	1	1	1	2	2	1	1	4	10	rs147156620		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55587399C>T	ENST00000333976.4	+	1	314	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(292-294)tgC>tgT		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.		C		3,4397		0,3,2197	203	203	203		294	-5.2	0	11	dbSNP_134	203	0,8592		0,0,4296	no	coding-synonymous	OR5D18	NM_001001952.1		0,3,6493	TT,TC,CC		0.0,0.0682,0.0231		98/314	55587399	3,12989	2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587399C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.294C>T	11.37:g.55587399C>T							p.C98C	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	294	+		all_epithelial(135;0.208)	98					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.294C>T	CCDS31510.1																																																																																				0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		T	55587399	C	T	55587399	2	4	161	1	0	0	0	0	0	0	0	1	11157	776	27	1		1	OR5D18	11	55587399	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	18990335	55587399	79419117	50	11462											
OR8J3	81168	broad.mit.edu	37	chr11	55904467	55904467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgactgctatcatatgcGaagcgcaggtggaaaaggct	11	8	13	9	3	1	1	1	1	0	0	1	3	1	2	1	3	3	3	1	3	5	2	rs550603090		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55904467G>A	ENST00000301529.1	-	1	727	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATCATATGCGAAGCGCAGGT	0.403													G|||	1	0.000199681	0	0	5008	,	,		20290	0		0	False		,,,				2504	0.001					uc010riz.2																			0		p.A242T(1)|p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(727-729)tCg>tTg		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.							119	111	113					11																	55904467		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904467G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.728C>T	11.37:g.55904467G>A	ENSP00000301529:p.Ser243Leu						p.S243L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	728	-	Esophageal squamous(21;0.00693)		243					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.728C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206656	0.39003	.	.	ENSG00000167822	ENST00000301529	T	0.38560	1.13	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000038	T	0.76219	0.3957	H	0.98027	4.13	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73820	-0.3862	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	243	Q8NGG0	OR8J3_HUMAN	L	243	ENSP00000301529:S243L	ENSP00000301529:S243L	S	-	2	0	OR8J3	55661043	1.000000	0.71417	0.288000	0.24862	0.112000	0.19704	6.243000	0.72384	1.553000	0.49476	0.297000	0.19635	TCG		0.403	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		A	55904467	G	A	55904467	3	1	161	1	0	0	0	0	1	0	0	0	11242	1059	37	2	221	2	OR8J3	11	55904467	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	317068	55904467	79102049	51	11463											
SLC43A3	29015	broad.mit.edu	37	chr11	57193641	57193641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcaggccctggcccGccatgagcagaagtggagtg	8	4	18	11	1	0	2	0	1	0	1	0	3	0	3	3	5	1	3	3	5	1	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:57193641G>A	ENST00000395123.2	-	3	309	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SLC43A3_ENST00000533524.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000529554.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	2					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCCCTGGCCCGCCATGAGCAG	0.587																																						uc010rjr.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(4-6)gCg>gTg		Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.							44	51	49					11																	57193641		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57193641G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.5C>T	11.37:g.57193641G>A	ENSP00000378555:p.Ala2Val					SLC43A3_uc001nke.3_5'Flank|SLC43A3_uc001nkg.3_Missense_Mutation_p.A2V|SLC43A3_uc001nkh.3_Missense_Mutation_p.A2V|SLC43A3_uc009yme.3_Missense_Mutation_p.A2V|SLC43A3_uc001nki.3_Missense_Mutation_p.A2V|SLC43A3_uc009ymf.1_Missense_Mutation_p.A2V|SLC43A3_uc010rjs.1_Missense_Mutation_p.A2V|SLC43A3_uc009ymg.1_Missense_Mutation_p.A2V	p.A2V	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN			2	347	-			2					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.5C>T	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723604	0.48728	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795;ENST00000533051;ENST00000529896;ENST00000526621;ENST00000530316;ENST00000529748	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.45;1.45;1.45;1.45;1.4;0.8;0.92;0.91;0.88;0.91;0.91;0.92;0.92;0.91;0.89;0.71;0.79	4.86	0.708	0.18144	.	2.073540	0.02291	N	0.070325	T	0.36193	0.0958	L	0.34521	1.04	0.09310	N	1	B;B;B	0.15141	0.012;0.008;0.003	B;B;B	0.10450	0.005;0.002;0.001	T	0.12041	-1.0563	10	0.33141	T	0.24	-2.4754	3.8945	0.09133	0.2501:0.0:0.4471:0.3028	.	2;2;2	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	V	2	ENSP00000378555:A2V;ENSP00000378556:A2V;ENSP00000337561:A2V;ENSP00000436254:A2V;ENSP00000434515:A2V;ENSP00000435893:A2V;ENSP00000436055:A2V;ENSP00000434913:A2V;ENSP00000435273:A2V;ENSP00000433974:A2V;ENSP00000431762:A2V;ENSP00000435156:A2V;ENSP00000434569:A2V;ENSP00000435109:A2V;ENSP00000435490:A2V;ENSP00000431367:A2V;ENSP00000434710:A2V	ENSP00000337561:A2V	A	-	2	0	SLC43A3	56950217	0.011000	0.17503	0.327000	0.25402	0.336000	0.28762	0.005000	0.13129	0.183000	0.20059	0.561000	0.74099	GCG		0.587	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		A	57193641	G	A	57193641	3	1	161	1	0	0	0	0	1	0	0	0	14634	1087	38	1	1518	1	SLC43A3	11	57193641	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	1289174	57193641	77812875	52	11464											
DYNC2H1	79659	broad.mit.edu	37	chr11	103006524	103006524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaaatgaagagattcatCggcattccaaatcagtttaa	17	10	8	6	1	2	3	2	1	0	2	4	5	3	3	1	1	0	2	1	1	4	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:103006524C>T	ENST00000375735.2	+	17	2565	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	DYNC2H1_ENST00000398093.3_Silent_p.I807I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	807	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATTCATCGGCATTCCAA	0.343																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(2419-2421)atC>atT		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							57	54	55					11																	103006524		1807	4059	5866	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103006524C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2421C>T	11.37:g.103006524C>T						DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I807I	p.I807I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	16	2565	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	807			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.2421C>T	CCDS53701.1																																																																																				0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103006524	C	T	103006524	2	4	161	1	0	0	0	0	0	0	0	1	4846	874	31	2		2	DYNC2H1	11	103006524	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	45812883	103006524	31999992	53	11465											
CD163L1	283316	broad.mit.edu	37	chr12	7519881	7519881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgaggcaggtctccatCtcatggaataaattctcctc	9	13	7	12	0	4	1	1	1	4	0	8	2	4	2	2	3	0	1	2	3	3	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:7519881C>T	ENST00000313599.3	-	18	4287	c.4230G>A	c.(4228-4230)gaG>gaA	p.E1410E	CD163L1_ENST00000416109.2_Silent_p.E1420E|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGTCTCCATCTCATGGAATA	0.498																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4258-4260)gaG>gaA		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							75	67	69					12																	7519881		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7519881C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4230G>A	12.37:g.7519881C>T						CD163L1_uc001qsy.3_Silent_p.E1410E	p.E1420E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			17	4286	-			1410					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.4260G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	1.631	-0.518940	0.04171	.	.	ENSG00000177675	ENST00000539726	.	.	.	1.93	0.982	0.19762	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	.	4.9225	0.13876	0.0:0.7891:0.0:0.2109	.	.	.	.	N	66	.	.	D	-	1	0	CD163L1	7411148	0.160000	0.22878	0.026000	0.17262	0.021000	0.10359	0.068000	0.14531	0.103000	0.17682	0.555000	0.69702	GAT		0.498	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7519881	C	T	7519881	2	4	161	1	0	0	0	0	0	0	0	1	2968	912	32	3		3	CD163L1	12	7519881	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08		7519881	126332014	54	11466											
KRT18	3875	broad.mit.edu	37	chr12	53346096	53346096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagatcgccacctaccGccgcctgctggaagatggcg	7	6	14	14	4	0	2	0	1	0	2	1	4	0	3	5	3	2	2	5	3	2	1	rs147541172	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:53346096G>A	ENST00000388835.3	+	6	1352	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.R381H|KRT8_ENST00000552551.1_5'Flank|KRT18_ENST00000550600.1_Missense_Mutation_p.R381H|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	381	Coil 2.|Interaction with DNAJB6.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCCACCTACCGCCGCCTGCTG	0.602																																						uc001sbe.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(1141-1143)cGc>cAc		Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.		G	HIS/ARG,HIS/ARG	0,4382		0,0,2191	16	19	18		1142,1142	4	1	12	dbSNP_134	18	3,8587		0,3,4292	no	missense,missense	KRT18	NM_000224.2,NM_199187.1	29,29	0,3,6483	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	381/431,381/431	53346096	3,12969	2191	4295	6486	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346096G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1142G>A	12.37:g.53346096G>A	ENSP00000373487:p.Arg381His					KRT18_uc009zmn.2_Missense_Mutation_p.R381H|KRT18_uc001sbg.3_Missense_Mutation_p.R381H|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.R381H	NM_199187	NP_954657	P05783	K1C18_HUMAN			6	1211	+			381			Coil 2.|Interaction with DNAJB6.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.1142G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	14.02	2.411230	0.42817	0.0	3.49E-4	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.94687	-3.49;-3.49;-3.49	4.0	4.0	0.46444	Filament (1);Intermediate filament protein, conserved site (1);	0.105638	0.36555	N	0.002525	D	0.91300	0.7257	L	0.41415	1.275	0.49582	D	0.999803	B;B	0.19200	0.011;0.034	B;B	0.23275	0.019;0.045	D	0.89427	0.3714	10	0.72032	D	0.01	.	14.3934	0.66996	0.0:0.0:1.0:0.0	.	381;381	F8VZY9;P05783	.;K1C18_HUMAN	H	381	ENSP00000373489:R381H;ENSP00000447278:R381H;ENSP00000373487:R381H	ENSP00000373487:R381H	R	+	2	0	KRT18	51632363	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.189000	0.65098	2.535000	0.85469	0.561000	0.74099	CGC		0.602	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		A	53346096	G	A	53346096	3	1	161	1	0	0	0	0	1	0	0	0	8455	1087	38	1	1164	1	KRT18	12	53346096	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	45826215	53346096	80505799	55	11467											
ACACB	32	broad.mit.edu	37	chr12	109693958	109693958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagctctgaagggaacGtggcagagcggattctttga	10	9	13	9	2	2	3	0	2	2	1	3	5	3	5	1	3	3	2	1	3	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:109693958G>A	ENST00000338432.7	+	45	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_ENST00000543201.1_Silent_p.T726T|ACACB_ENST00000377854.5_Silent_p.T1990T|ACACB_ENST00000377848.3_Silent_p.T2060T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2060	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6178-6180)acG>acA		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						59	54	56					12																	109693958		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109693958G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6180G>A	12.37:g.109693958G>A						ACACB_uc001toc.3_Silent_p.T2060T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T726T	p.T2060T	NM_001093	NP_001084	O00763	ACACB_HUMAN			44	6299	+			2060			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6180G>A	CCDS31898.1																																																																																				0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109693958	G	A	109693958	2	1	161	1	0	0	0	0	0	0	0	1	107	1132	40	1		1	ACACB	12	109693958	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	56347862	109693958	24157937	56	11468											
PITPNM2	57605	broad.mit.edu	37	chr12	123473301	123473301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggagaccacgtctgtTgactcccagtagctggcgtg	10	8	13	10	2	1	3	0	1	1	2	2	4	2	3	2	2	1	3	2	2	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:123473301T>C	ENST00000542749.1	-	17	2913	c.2850A>G	c.(2848-2850)tcA>tcG	p.S950S	PITPNM2_ENST00000320201.4_Silent_p.S950S|PITPNM2_ENST00000392428.1_Silent_p.S671S|PITPNM2_ENST00000280562.5_Silent_p.S944S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	950	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACGTCTGTTGACTCCCAGT	0.632																																						uc001uej.1																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2848-2850)tcA>tcG		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.							67	49	55					12																	123473301		2200	4296	6496	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123473301T>C	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2850A>G	12.37:g.123473301T>C						PITPNM2_uc001uek.1_Silent_p.S944S	p.S950S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	3049	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		950			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2850A>G	CCDS9242.1																																																																																				0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		C	123473301	T	C	123473301	2	2	161	1	0	0	0	0	0	0	0	1	11951	1799	63	4		4	PITPNM2	12	123473301	Silent	SNP	T	TCGA-19-4068-01A-01D-1353-08	13779343	123473301	10378594	57	11469											
MYH6	4624	broad.mit.edu	37	chr14	23861788	23861789	+	Frame_Shift_Del	DEL	TC	TC	-																															cacctggttttccttcagttTcttctgtagttgaagggcca																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr14:23861788_23861789delTC	ENST00000356287.3	-	24	3353_3354	c.3324_3325delGA	c.(3322-3327)aagaaafs	p.KK1108fs	MYH6_ENST00000405093.3_Frame_Shift_Del_p.KK1108fs			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1108					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTCAGTTTCTTCTGTAGTT	0.505																																						uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3322-3327)aagaaafs		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.																																				SO:0001589	frameshift_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23861788_23861789delTC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3324_3325delGA	14.37:g.23861788_23861789delTC	ENSP00000348634:p.Lys1108fs						p.K1108fs	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	24	3395_3396	-	all_cancers(95;2.54e-05)		1108					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Frame_Shift_Del	DEL	ENST00000356287.3	37	c.3324_3325delGA	CCDS9600.1																																																																																				0.505	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			-	23861789	TC	-	23861788	7	5	161	1	0	1	0	1	0	0	0	0	10038	1792	62	0	2554	0	MYH6	14	23861788	Frame_Shift_Del	DEL	TC	TCGA-19-4068-01A-01D-1353-08		23861788	83487752	58	11470											
SPTBN5	51332	broad.mit.edu	37	chr15	42160382	42160382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgatacacctggtccCgctggtcctgcagggctcga	6	9	13	13	2	1	1	0	1	1	0	4	2	3	1	3	4	2	3	3	4	1	1	rs374054802	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:42160382C>A	ENST00000320955.6	-	34	6319	c.6092G>T	c.(6091-6093)cGg>cTg	p.R2031L	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2031					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCTGGTCCCGCTGGTCCTG	0.642																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5986-5988)cGg>cTg		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							20	20	20					15																	42160382		2030	4192	6222	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42160382C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6092G>T	15.37:g.42160382C>A	ENSP00000317790:p.Arg2031Leu					MIR4310_uc021sjo.1_5'Flank	p.R1996L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	33	6320	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2031						Missense_Mutation	SNP	ENST00000320955.6	37	c.5987G>T		.	.	.	.	.	.	.	.	.	.	.	17.54	3.415825	0.62511	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.78	1.84	0.25277	.	0.090641	0.43416	D	0.000577	T	0.61173	0.2326	M	0.73962	2.25	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.52668	-0.8545	10	0.72032	D	0.01	.	7.0745	0.25197	0.0:0.7115:0.0:0.2885	.	2031	Q9NRC6	SPTN5_HUMAN	L	2031	ENSP00000317790:R2031L	ENSP00000317790:R2031L	R	-	2	0	SPTBN5	39947674	0.000000	0.05858	0.060000	0.19600	0.899000	0.52679	0.959000	0.29240	0.101000	0.17610	0.401000	0.26515	CGG		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42160382	C	A	42160382	3	1	161	1	0	0	0	0	1	0	0	0	15121	652	23	5	5072	5	SPTBN5	15	42160382	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		42160382	60371010	59	11471											
ATP8B4	79895	broad.mit.edu	37	chr15	50209193	50209193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacacatcattcatgtcGtcagtcagcatgttgcaggc	12	10	8	11	1	4	0	4	0	0	0	5	0	4	0	0	1	3	3	0	1	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:50209193G>A	ENST00000284509.6	-	20	2220	c.2079C>T	c.(2077-2079)gaC>gaT	p.D693D	ATP8B4_ENST00000559829.1_Silent_p.D693D	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	693						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATTCATGTCGTCAGTCAGCA	0.408																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2077-2079)gaC>gaT		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							275	232	247					15																	50209193		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50209193G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2079C>T	15.37:g.50209193G>A						ATP8B4_uc010ber.3_Silent_p.D566D|ATP8B4_uc010ufd.2_Silent_p.D503D|ATP8B4_uc010ufe.2_Non-coding_Transcript	p.D693D	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2221	-		all_lung(180;0.00183)	693					Q9H727	Silent	SNP	ENST00000284509.6	37	c.2079C>T	CCDS32238.1																																																																																				0.408	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50209193	G	A	50209193	2	1	161	1	0	0	0	0	0	0	0	1	1197	1136	40	1		1	ATP8B4	15	50209193	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	8048811	50209193	52322199	60	11472											
SH3GL3	6457	broad.mit.edu	37	chr15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccagtgtccccagaCgagaatacaagccaaggcct	12	6	9	14	1	0	2	0	0	0	2	2	3	2	2	5	1	3	1	5	1	4	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:84257442C>T	ENST00000427482.2	+	8	1063	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253	Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458																																						uc002bjw.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(757-759)Cga>Tga		Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.							131	96	108					15																	84257442		2203	4300	6503	SO:0001587	stop_gained	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84257442C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.757C>T	15.37:g.84257442C>T	ENSP00000391372:p.Arg253*					SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.3_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.3_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.3_Non-coding_Transcript	p.R253*	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			7	952	+			253			Interaction with ARC (By similarity).		O43553|O43554	Nonsense_Mutation	SNP	ENST00000427482.2	37	c.757C>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	SH3GL3	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA		0.458	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		T	84257442	C	T	84257442	4	4	161	1	0	0	0	0	0	1	0	0	14252	528	19	1	787	1	SH3GL3	15	84257442	Nonsense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	34048249	84257442	18273950	61	11473											
DNAH9	1770	broad.mit.edu	37	chr17	11865572	11865572	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcctgctgggacacacAggtaaagcttggaatgaacc	12	7	13	9	0	0	1	0	1	0	0	0	3	0	3	2	4	4	3	2	4	4	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:11865572A>G	ENST00000262442.4	+	68	13300	c.13232A>G	c.(13231-13233)cAg>cGg	p.Q4411R	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Splice_Site_p.Q4335R|DNAH9_ENST00000608377.1_Splice_Site_p.Q723R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4411					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGACACACAGGTAAAGCTT	0.473																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.e68+1		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							53	56	55					17																	11865572		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865572A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13233+1A>G	17.37:g.11865572A>G						DNAH9_uc010coo.3_Splice_Site_p.Q3629_splice|DNAH9_uc002gnf.3_Splice_Site_p.Q723_splice	p.Q4411_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13301	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4411					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13233_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601055	0.66332	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08634	3.07;3.07;3.07	5.04	5.04	0.67666	Dynein heavy chain (1);	0.056757	0.64402	D	0.000001	T	0.17109	0.0411	L	0.48935	1.535	0.51012	D	0.999905	P	0.50819	0.939	P	0.59825	0.864	T	0.01323	-1.1385	10	0.32370	T	0.25	.	11.0149	0.47682	0.8443:0.1557:0.0:0.0	.	4411	Q9NYC9	DYH9_HUMAN	R	4411;4335;2917;723	ENSP00000262442:Q4411R;ENSP00000414874:Q4335R;ENSP00000379323:Q723R	ENSP00000262442:Q4411R	Q	+	2	0	DNAH9	11806297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.348000	0.73009	2.116000	0.64780	0.533000	0.62120	CAG		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	G	11865572	A	G	11865572	5	3	161	1	0	0	0	0	0	0	1	0	4608	202	7	4	13502	4	DNAH9	17	11865572	Splice_Site	SNP	A	TCGA-19-4068-01A-01D-1353-08		11865572	69329638	62	11474											
ALDH3A1	218	broad.mit.edu	37	chr17	19642827	19642827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaccacccaccttgtcGttgctggagaacatgtagag	9	8	11	13	1	0	2	0	0	0	2	1	3	0	2	4	2	2	3	4	2	2	3	rs374241489		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:19642827G>A	ENST00000457500.2	-	7	1439	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ALDH3A1_ENST00000494157.2_Silent_p.N297N|ALDH3A1_ENST00000444455.1_Silent_p.N370N|ALDH3A1_ENST00000225740.6_Silent_p.N370N|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Silent_p.N306N	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	370					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCACCTTGTCGTTGCTGGAGA	0.632																																						uc002gwk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1459-1461)aaC>aaT		Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	NADH(DB00157)	G	,,	0,4406		0,0,2203	68	52	57		1110,1110,1110	-7.2	0	17		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	370/454,370/454,370/454	19642827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19642827G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1110C>T	17.37:g.19642827G>A						ALDH3A1_uc010cqu.3_Silent_p.N370N|ALDH3A1_uc010vzd.2_Silent_p.N370N|ALDH3A1_uc002gwj.3_Silent_p.N370N|ALDH3A1_uc010cqv.3_Silent_p.N369N|ALDH3A1_uc002gwl.1_Silent_p.N297N	p.N487N			P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	5	1724	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		370					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.1461C>T	CCDS11212.1																																																																																				0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		A	19642827	G	A	19642827	2	1	161	1	0	0	0	0	0	0	0	1	497	1136	40	1		1	ALDH3A1	17	19642827	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	7777255	19642827	61552383	63	11475											
DNAI2	64446	broad.mit.edu	37	chr17	72283178	72283178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagagtatttcaatgaCgaggaggccatggaagtgat	14	10	13	4	1	1	4	1	3	0	1	1	7	1	6	1	3	0	1	1	3	5	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:72283178C>T	ENST00000311014.6	+	4	475	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DNAI2_ENST00000446837.2_Silent_p.D136D|DNAI2_ENST00000579490.1_Silent_p.D193D|DNAI2_ENST00000582036.1_Silent_p.D136D|DNAI2_ENST00000307504.5_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	136					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATTTCAATGACGAGGAGGCCA	0.507									Kartagener syndrome																													uc002jkf.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(406-408)gaC>gaT		Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.							155	116	129					17																	72283178		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72283178C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.408C>T	17.37:g.72283178C>T						DNAI2_uc002jkg.3_Silent_p.D136D|DNAI2_uc010dfp.3_Intron	p.D136D	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			3	518	+			136					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.408C>T	CCDS11697.1																																																																																				0.507	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		T	72283178	C	T	72283178	2	4	161	1	0	0	0	0	0	0	0	1	4610	535	19	1		1	DNAI2	17	72283178	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	52640351	72283178	8912032	64	11476											
AFG3L2	10939	broad.mit.edu	37	chr18	12356814	12356814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcccagtgcctggaggaCcagtgagaatggcacccttc	8	9	11	13	0	1	1	0	1	1	1	3	4	2	3	4	3	1	1	4	3	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:12356814C>G	ENST00000269143.3	-	9	1274	c.1043G>C	c.(1042-1044)gGt>gCt	p.G348A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	348					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTGGAGGACCAGTGAGAAT	0.418																																						uc002kqz.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1042-1044)gGt>gCt		Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	Adenosine triphosphate(DB00171)						88	74	79					18																	12356814		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12356814C>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1043G>C	18.37:g.12356814C>G	ENSP00000269143:p.Gly348Ala						p.G348A	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			8	1237	-			348					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1043G>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978578	0.92982	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.99089	-5.41	5.41	5.41	0.78517	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97771	1.0226	10	0.87932	D	0	-4.7233	19.5665	0.95395	0.0:1.0:0.0:0.0	.	348	Q9Y4W6	AFG32_HUMAN	A	348;363	ENSP00000269143:G348A	ENSP00000269143:G348A	G	-	2	0	AFG3L2	12346814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.699000	0.92147	0.655000	0.94253	GGT		0.418	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		G	12356814	C	G	12356814	3	3	161	1	0	0	0	0	1	0	0	0	360	507	18	5	1386	5	AFG3L2	18	12356814	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		12356814	65720434	65	11477											
DSG4	147409	broad.mit.edu	37	chr18	28986155	28986155	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcacaaatggtgcagttAtatgcctgtgattgcgatga	10	13	12	6	1	0	2	0	2	0	0	0	3	0	2	1	2	3	3	1	2	3	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:28986155A>G	ENST00000308128.4	+	12	1887	c.1752A>G	c.(1750-1752)ttA>ttG	p.L584L	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.L584L|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	584					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTGCAGTTATATGCCTGTG	0.483																																						uc002kwr.2																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1750-1752)ttA>ttG		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							108	104	105					18																	28986155		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986155A>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1752A>G	18.37:g.28986155A>G						DSG4_uc002kwq.2_Silent_p.L584L	p.L584L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1887	+			584					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1752A>G	CCDS11897.1																																																																																				0.483	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		G	28986155	A	G	28986155	2	3	161	1	0	0	0	0	0	0	0	1	4779	446	16	4		4	DSG4	18	28986155	Silent	SNP	A	TCGA-19-4068-01A-01D-1353-08	16629341	28986155	49091093	66	11478											
THEG	51298	broad.mit.edu	37	chr19	362390	362390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctcccagcgaggatctCggtcaggaacgcacttgtcc	8	7	11	15	3	2	0	1	0	1	0	5	3	4	2	3	3	2	2	3	3	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:362390C>T	ENST00000342640.4	-	8	992	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	THEG_ENST00000346878.2_Missense_Mutation_p.R293Q	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	317					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGATCTCGGTCAGGAAC	0.597																																						uc002lol.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(949-951)cGa>cAa		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							100	93	96					19																	362390		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362390C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.950G>A	19.37:g.362390C>T	ENSP00000340088:p.Arg317Gln					THEG_uc002lom.3_Missense_Mutation_p.R293Q	p.R317Q	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	993	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	317					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.950G>A	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.640490|3.640490	0.67244|0.67244	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000530711|ENST00000342640;ENST00000346878	.|T;T	.|0.34275	.|1.37;1.37	3.55|3.55	2.51|2.51	0.30379|0.30379	.|.	.|0.111738	.|0.38720	.|N	.|0.001594	T|T	0.51719|0.51719	0.1691|0.1691	M|M	0.75777|0.75777	2.31|2.31	0.33188|0.33188	D|D	0.550518|0.550518	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.69307	.|0.946;0.963	T|T	0.62520|0.62520	-0.6837|-0.6837	6|10	0.87932|0.66056	D|D	0|0.02	-13.0681|-13.0681	6.1145|6.1145	0.20120|0.20120	0.0:0.8609:0.0:0.1391|0.0:0.8609:0.0:0.1391	.|.	.|293;317	.|Q9P2T0-2;Q9P2T0	.|.;THEG_HUMAN	K|Q	95|317;293	.|ENSP00000340088:R317Q;ENSP00000264820:R293Q	ENSP00000431699:E95K|ENSP00000340088:R317Q	E|R	-|-	1|2	0|0	THEG|THEG	313390|313390	0.922000|0.922000	0.31269|0.31269	0.983000|0.983000	0.44433|0.44433	0.886000|0.886000	0.51366|0.51366	1.591000|1.591000	0.36665|0.36665	1.982000|1.982000	0.57802|0.57802	0.505000|0.505000	0.49811|0.49811	GAG|CGA		0.597	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			T	362390	C	T	362390	3	4	161	1	0	0	0	0	1	0	0	0	15854	884	31	2	193	2	THEG	19	362390	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		362390	58766593	67	11479											
GPX4	22904	broad.mit.edu	37	chr19	1105195	1105195	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgcagtgcgcgtcccGggacgactggcgctgtgcgc	3	8	16	14	6	0	0	0	0	0	0	1	2	1	1	2	2	4	2	2	2	0	1	rs369712159		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:1105195G>A	ENST00000361757.3	-	0	4922				GPX4_ENST00000589115.1_Missense_Mutation_p.R32Q|GPX4_ENST00000354171.8_Missense_Mutation_p.R32Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGCGTCCCGGGACGACTGG	0.672																																						uc021umh.1																			0				endometrium(1)|kidney(2)	3						c.(205-207)cGg>cAg		Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 3, mRNA.	Glutathione(DB00143)	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4118		0,0,2059	30	33	32		95,206,95	1.8	0.5	19		32	1,8345		0,1,4172	no	missense,missense,missense	GPX4	NM_001039847.1,NM_001039848.1,NM_002085.3	43,43,43	0,1,6231	AA,AG,GG		0.012,0.0,0.0080	benign,benign,benign	32/228,69/235,32/198	1105195	1,12463	2059	4173	6232	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105195G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105195G>A						GPX4_uc021umg.1_Missense_Mutation_p.R32Q|GPX4_uc021umf.1_Missense_Mutation_p.R32Q	p.R69Q	NM_001039848	NP_002076	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	291	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	32					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.206G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	2.375	-0.343399	0.05243	0.0	1.2E-4	ENSG00000167468	ENST00000354171	T	0.03553	3.89	3.93	1.79	0.24919	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.006;0.032;0.032	B;B;B	0.16722	0.016;0.008;0.008	T	0.49771	-0.8904	9	0.13853	T	0.58	.	4.3788	0.11284	0.2028:0.1878:0.6094:0.0	.	5;32;32	P36969-2;Q6PI42;P36969	.;.;GPX4_HUMAN	Q	32	ENSP00000346103:R32Q	ENSP00000346103:R32Q	R	+	2	0	GPX4	1056195	0.995000	0.38212	0.476000	0.27291	0.031000	0.12232	3.192000	0.50989	0.337000	0.23665	-0.794000	0.03295	CGG		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1105195	G	A	1105195	1	1	161	0	1	0	0	0	0	0	0	0	6742	1116	39	2		2	GPX4	19	1105195	IGR	SNP	G	TCGA-19-4068-01A-01D-1353-08	742805	1105195	58023788	68	11480											
CD209	30835	broad.mit.edu	37	chr19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgccactaaattccgCgcagtcttcctccccaacgt	8	10	6	17	3	1	0	0	0	1	0	4	0	4	0	6	0	2	1	6	0	3	4	rs200282091		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000204801.8_Missense_Mutation_p.A313T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													c|||	1	0.000199681	8e-04	0	5008	,	,		19290	0		0	False		,,,				2504	0					uc002mht.2																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1069-1071)Gcg>Acg		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	251	229	236		661,937,793,997,1051,586,1069	3.5	0	19		236	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	221/269,313/361,265/313,333/381,351/399,196/244,357/405	7808071	1,13005	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7808071C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1069G>A	19.37:g.7808071C>T	ENSP00000315477:p.Ala357Thr					CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	p.A357T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			6	1136	-			357			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.1069G>A	CCDS12186.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.08	2.427520	0.43122	0.0	1.16E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	3.45	3.45	0.39498	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.40815	0.1132	M	0.69463	2.115	0.09310	N	1	B;D;D;D;P;B;D;D;D;P;D	0.69078	0.438;0.997;0.985;0.996;0.93;0.379;0.975;0.957;0.986;0.903;0.96	B;D;B;D;B;B;B;B;P;B;B	0.65573	0.054;0.936;0.351;0.933;0.182;0.024;0.432;0.15;0.556;0.064;0.239	T	0.08391	-1.0724	9	0.66056	D	0.02	.	10.7263	0.46070	0.0:1.0:0.0:0.0	.	357;121;351;313;221;333;265;357;287;333;357	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	357;351;333;313;265;221;121	ENSP00000315477:A357T;ENSP00000346373:A351T;ENSP00000315407:A333T;ENSP00000204801:A313T;ENSP00000301357:A221T;ENSP00000377716:A121T	ENSP00000204801:A313T	A	-	1	0	CD209	7714071	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	2.594000	0.46189	2.221000	0.72209	0.455000	0.32223	GCG		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7808071	C	T	7808071	3	4	161	1	0	0	0	0	1	0	0	0	2984	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	6702876	7808071	51320912	69	11481											
MUC16	94025	broad.mit.edu	37	chr19	9072932	9072932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattcaaatgctgaaccGgtggtccccacattggtaac	10	11	10	10	1	1	2	1	2	0	0	2	2	2	2	3	3	3	2	3	3	3	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:9072932G>A	ENST00000397910.4	-	3	14717	c.14514C>T	c.(14512-14514)acC>acT	p.T4838T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4840	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGAACCGGTGGTCCCCA	0.463																																						uc002mkp.3																			0		p.T4837T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14512-14514)acC>acT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							170	159	163					19																	9072932		2068	4197	6265	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072932G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14514C>T	19.37:g.9072932G>A							p.T4838T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	14718	-			4840			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.14514C>T	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9072932	G	A	9072932	2	1	161	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9072932	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	1264861	9072932	50056051	70	11482											
ZNF345	25850	broad.mit.edu	37	chr19	37368940	37368940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctatgaatgtaaagaatGtggaaagtcctttagtagtg	14	12	10	5	0	0	2	0	1	0	1	1	3	1	3	2	1	0	2	2	1	8	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:37368940G>C	ENST00000529555.1	+	2	1996	c.1208G>C	c.(1207-1209)tGt>tCt	p.C403S	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C403S|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C403S			Q14585	ZN345_HUMAN	zinc finger protein 345	403					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAAAGAATGTGGAAAGTCC	0.418																																						uc002oex.3																			0		p.E402Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1207-1209)tGt>tCt		Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.							83	80	81					19																	37368940		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368940G>C	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1208G>C	19.37:g.37368940G>C	ENSP00000431202:p.Cys403Ser					ZNF345_uc021utn.1_Missense_Mutation_p.C403S|ZNF345_uc002oey.4_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.C403S|ZNF345_uc021utp.1_Missense_Mutation_p.C403S|ZNF345_uc021utq.1_Missense_Mutation_p.C403S	p.C403S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1589	+	Esophageal squamous(110;0.183)		403						Missense_Mutation	SNP	ENST00000529555.1	37	c.1208G>C	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715571	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	D;D	0.85861	-2.04;-2.04	3.93	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92254	0.7543	M	0.92317	3.295	0.27128	N	0.961965	D	0.63880	0.993	P	0.61533	0.89	D	0.84148	0.0421	9	0.87932	D	0	.	9.246	0.37527	0.1124:0.0:0.8876:0.0	.	403	Q14585	ZN345_HUMAN	S	403;403;167	ENSP00000431216:C403S;ENSP00000431202:C403S	ENSP00000442320:C167S	C	+	2	0	ZNF345	42060780	1.000000	0.71417	0.994000	0.49952	0.688000	0.40055	5.898000	0.69838	2.162000	0.67917	0.561000	0.74099	TGT		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			C	37368940	G	C	37368940	3	2	161	1	0	0	0	0	1	0	0	0	17856	1377	48	5	1210	5	ZNF345	19	37368940	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	28296008	37368940	21760043	71	11483											
KLC3	147700	broad.mit.edu	37	chr19	45849928	45849929	+	Frame_Shift_Ins	INS	-	-	G																															actggaggagacgcagcggcINSggcttcgggccagcgaggag																								rs141629020		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:45849928_45849929insG	ENST00000391946.2	+	3	487_488	c.385_386insG	c.(385-387)cggfs	p.R129fs	KLC3_ENST00000470402.1_Frame_Shift_Ins_p.R143fs|KLC3_ENST00000585434.1_Frame_Shift_Ins_p.R129fs	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	129					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCAGCGGCGGCTTCGGGCC	0.713																																						uc002pbg.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(427-429)cggfs		Homo sapiens kinesin light chain 3 (KLC3), mRNA.																																				SO:0001589	frameshift_variant	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45849928_45849929insG	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.387dupG	19.37:g.45849930_45849930dupG	ENSP00000375810:p.Arg129fs					KLC3_uc002pbe.3_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbf.1_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs	p.R143fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	1	527_528	+		Ovarian(192;0.0728)|all_neural(266;0.112)	129					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Frame_Shift_Ins	INS	ENST00000391946.2	37	c.427_428insG	CCDS12660.2																																																																																				0.713	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		G	45849929	-	G	45849928	7	5	161	1	0	1	1	0	0	0	0	0	8335	759	27	0	391	0	KLC3	19	45849928	Frame_Shift_Ins	INS	-	TCGA-19-4068-01A-01D-1353-08	8480988	45849928	13279055	72	11484											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341632	55341632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacacagagaaaaatcactCgcccttctcagaggcccaag	14	6	7	14	1	3	2	3	0	1	2	5	3	3	2	2	1	0	0	2	1	3	1	rs573252093		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:55341632C>T	ENST00000391728.4	+	9	1270	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R413C|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R318C|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R396C|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R396C|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	413					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AAAAATCACTCGCCCTTCTCA	0.507													.|||	1	0.000199681	8e-04	0	5008	,	,		15489	0		0	False		,,,				2504	0					uc002qhm.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23								Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.							248	235	240					19																	55341632		2174	4167	6341	SO:0001583	missense	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55341632C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1237C>T	19.37:g.55341632C>T	ENSP00000375608:p.Arg413Cys					KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.R413C|KIR3DL2_uc010esf.3_Missense_Mutation_p.R318C|KIR3DL2_uc021vbo.1_Missense_Mutation_p.R396C|KIR3DL2_uc002qhk.4_Missense_Mutation_p.R413C|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank		NM_012314	NP_036446	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)			+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37		CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	2.778	-0.254123	0.05829	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00482	7.15;7.1;7.15;7.1;7.16	0.569	0.569	0.17340	.	.	.	.	.	T	0.00384	0.0012	L	0.48174	1.505	0.09310	N	1	B;B;B	0.16166	0.006;0.016;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.37056	-0.9722	8	0.48119	T	0.1	.	.	.	.	.	396;318;413	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	C	413;396;391;413;396;318	ENSP00000443350:R413C;ENSP00000442355:R396C;ENSP00000375608:R413C;ENSP00000326868:R396C;ENSP00000350901:R318C	ENSP00000326868:R396C	R	+	1	0	KIR3DL1	60033444	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.678000	0.25277	0.567000	0.29293	0.184000	0.17185	CGC		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		T	55341632	C	T	55341632	3	4	161	1	0	0	0	0	1	0	0	0	8320	884	31	2	1271	2	KIR3DL1	19	55341632	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	9491704	55341632	3787351	73	11485											
TOP1	7150	broad.mit.edu	37	chr20	39726941	39726941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttcaaagcccagacGgaagctcggaaacagatgag	15	6	11	9	2	1	3	1	1	0	2	2	5	1	5	1	2	3	2	1	2	4	2	rs369208633		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:39726941G>A	ENST00000361337.2	+	11	1189	c.939G>A	c.(937-939)acG>acA	p.T313T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	313					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	AAGCCCAGACGGAAGCTCGGA	0.368			T	NUP98	AML*																																	uc002xjl.3				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(937-939)acG>acA		Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	G		1,4405	2.1+/-5.4	0,1,2202	83	83	83		939	-2.3	0.8	20		83	0,8600		0,0,4300	no	coding-synonymous	TOP1	NM_003286.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		313/766	39726941	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39726941G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.939G>A	20.37:g.39726941G>A							p.T313T	NM_003286	NP_003277	P11387	TOP1_HUMAN			10	1185	+		Myeloproliferative disorder(115;0.00878)	313					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.939G>A	CCDS13312.1																																																																																				0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			A	39726941	G	A	39726941	2	1	161	1	0	0	0	0	0	0	0	1	16360	1103	39	2		2	TOP1	20	39726941	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		39726941	23298579	74	11486											
SLC12A5	57468	broad.mit.edu	37	chr20	44665416	44665416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccatgagtgcaattgcaAcgaatggtgttgtgcctggt	8	13	12	8	1	1	1	0	1	1	0	2	2	1	1	2	2	4	3	2	2	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:44665416A>G	ENST00000454036.2	+	5	581	c.532A>G	c.(532-534)Acg>Gcg	p.T178A	SLC12A5_ENST00000372315.1_Missense_Mutation_p.T155A|SLC12A5_ENST00000608944.1_Missense_Mutation_p.T104A|SLC12A5_ENST00000243964.3_Missense_Mutation_p.T155A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	178					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAATTGCAACGAATGGTGT	0.612																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(532-534)Acg>Gcg		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						153	114	127					20																	44665416		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44665416A>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.532A>G	20.37:g.44665416A>G	ENSP00000387694:p.Thr178Ala					SLC12A5_uc002xra.2_Missense_Mutation_p.T155A|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.T155A	p.T178A	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			4	608	+		Myeloproliferative disorder(115;0.0122)	178					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.532A>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.251290	0.39797	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	4.65	3.54	0.40534	Amino acid permease domain (1);	0.059462	0.64402	D	0.000003	D	0.99399	0.9788	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.66716	0.946;0.911;0.946	D	0.98423	1.0578	10	0.87932	D	0	.	9.9308	0.41521	0.8477:0.0:0.0:0.1523	.	178;155;155	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	A	178;155;155;155	ENSP00000387694:T178A;ENSP00000361389:T155A;ENSP00000446091:T155A;ENSP00000243964:T155A	ENSP00000243964:T155A	T	+	1	0	SLC12A5	44098823	1.000000	0.71417	0.992000	0.48379	0.042000	0.13812	9.006000	0.93592	0.792000	0.33850	-0.490000	0.04691	ACG		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			G	44665416	A	G	44665416	3	3	161	1	0	0	0	0	1	0	0	0	14386	43	2	4	606	4	SLC12A5	20	44665416	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	4938475	44665416	18360104	75	11487											
TFF2	7032	broad.mit.edu	37	chr21	43767708	43767708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggtagccacagtttcttCggtctgagacctccatgacg	7	10	11	13	3	2	2	0	2	2	1	4	3	3	2	4	2	1	2	4	2	1	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:43767708C>T	ENST00000291526.4	-	3	433	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	88	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602																																						uc002zaw.3																			0				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						c.(262-264)cGa>cAa		Homo sapiens trefoil factor 2 (TFF2), mRNA.							76	65	69					21																	43767708		2203	4300	6503	SO:0001583	missense	7032				digestion	extracellular region		g.chr21:43767708C>T		CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"spasmolytic protein 1"	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.263G>A	21.37:g.43767708C>T	ENSP00000291526:p.Arg88Gln						p.R88Q	NM_005423	NP_005414	Q03403	TFF2_HUMAN			2	405	-			88			P-type 2.		Q15854	Missense_Mutation	SNP	ENST00000291526.4	37	c.263G>A	CCDS13684.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754229	0.69648	.	.	ENSG00000160181	ENST00000291526	T	0.76968	-1.06	4.2	4.2	0.49525	P-type trefoil, conserved site (1);P-type trefoil (5);	0.000000	0.52532	D	0.000062	D	0.90304	0.6967	H	0.94808	3.585	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83355	-0.0001	9	.	.	.	-18.2562	12.285	0.54788	0.0:1.0:0.0:0.0	.	88	Q03403	TFF2_HUMAN	Q	88	ENSP00000291526:R88Q	.	R	-	2	0	TFF2	42640777	0.044000	0.20184	0.022000	0.16811	0.010000	0.07245	2.020000	0.41010	2.345000	0.79718	0.650000	0.86243	CGA		0.602	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1	NM_005423		T	43767708	C	T	43767708	3	4	161	1	0	0	0	0	1	0	0	0	15801	884	31	2	134	2	TFF2	21	43767708	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		43767708	4362187	76	11488											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970888	45970888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagagcaggtgggcaCgcagcacacagctttgcagc	10	6	13	12	1	1	2	1	1	0	1	1	2	1	2	0	2	5	6	0	2	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:45970888C>T	ENST00000391621.1	-	1	500	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	152	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGGTGGGCACGCAGCACACA	0.617																																						uc002zfi.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(454-456)Gtg>Atg		Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.							128	128	128					21																	45970888		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970888C>T	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.454G>A	21.37:g.45970888C>T	ENSP00000375479:p.Val152Met					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V152M	NM_198693	NP_941966	P60368	KR102_HUMAN			0	501	-			152			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.454G>A	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	c	7.675	0.687892	0.14973	.	.	ENSG00000205445	ENST00000391621	T	0.00678	5.87	3.1	-3.29	0.05017	.	.	.	.	.	T	0.00815	0.0027	M	0.65498	2.005	0.09310	N	1	P	0.39116	0.66	B	0.32762	0.152	T	0.35847	-0.9772	9	0.49607	T	0.09	.	1.2778	0.02034	0.162:0.1803:0.1611:0.4967	.	152	P60368	KR102_HUMAN	M	152	ENSP00000375479:V152M	ENSP00000375479:V152M	V	-	1	0	KRTAP10-2	44795316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.034000	0.01424	-0.793000	0.04475	-0.390000	0.06520	GTG		0.617	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45970888	C	T	45970888	3	4	161	1	0	0	0	0	1	0	0	0	8509	536	19	1	317	1	KRTAP10-2	21	45970888	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	2203180	45970888	2159007	77	11489											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021573	46021573	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccagcctcctgtgTgtctctcctttgccgccccg	1	11	9	20	3	1	0	0	0	1	0	4	0	3	0	8	0	3	0	8	0	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:46021573T>G	ENST00000380102.2	+	1	1077	c.1052T>G	c.(1051-1053)gTg>gGg	p.V351G	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	351	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCCTCCTGTGTGTCTCTCCTT	0.672																																						uc002zfn.4																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1036-1038)gTg>gGg		Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.							33	38	37					21																	46021573		2190	4278	6468	SO:0001583	missense	386675					keratin filament		g.chr21:46021573T>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.1052T>G	21.37:g.46021573T>G	ENSP00000369445:p.Val351Gly					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V346G	NM_198689	NP_941962	P60409	KR107_HUMAN			1	1062	+			351			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.1037T>G		.	.	.	.	.	.	.	.	.	.	t	6.513	0.462906	0.12402	.	.	ENSG00000205441	ENST00000380102	T	0.00724	5.78	3.89	3.89	0.44902	.	.	.	.	.	T	0.01029	0.0034	M	0.71036	2.16	0.51233	D	0.999919	P	0.37101	0.582	B	0.31686	0.134	T	0.65874	-0.6062	9	0.29301	T	0.29	.	6.8316	0.23913	0.2076:0.0:0.0:0.7924	.	346	P60409-2	.	G	351	ENSP00000369445:V351G	ENSP00000369445:V351G	V	+	2	0	KRTAP10-7	44846001	0.996000	0.38824	0.991000	0.47740	0.068000	0.16541	1.864000	0.39469	1.538000	0.49270	0.383000	0.25322	GTG		0.672	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		G	46021573	T	G	46021573	3	3	161	1	0	0	0	0	1	0	0	0	8514	1696	59	5	1043	5	KRTAP10-7	21	46021573	Missense_Mutation	SNP	T	TCGA-19-4068-01A-01D-1353-08	50685	46021573	2108322	78	11490											
CDC42EP1	11135	broad.mit.edu	37	chr22	37964570	37964570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccagcccagtgggaGggggtccccgaggacctgct	7	6	16	12	1	0	1	0	1	0	0	2	4	2	3	5	4	2	1	5	4	1	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr22:37964570G>A	ENST00000249014.4	+	3	1339	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	307					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGTGGGAGGGGGTCCCCG	0.692																																						uc003asz.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(919-921)Ggg>Agg		Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.							16	16	16					22																	37964570		2193	4296	6489	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964570G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.919G>A	22.37:g.37964570G>A	ENSP00000249014:p.Gly307Arg						p.G307R	NM_152243	NP_689449	Q00587	BORG5_HUMAN			2	1322	+	Melanoma(58;0.0574)		307					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.919G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390338	0.42410	.	.	ENSG00000128283	ENST00000249014	T	0.28895	1.59	4.9	3.88	0.44766	.	1.317480	0.05133	N	0.492842	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.22382	-1.0218	10	0.20519	T	0.43	-19.0437	7.7164	0.28706	0.0908:0.1764:0.7328:0.0	.	307	Q00587	BORG5_HUMAN	R	307	ENSP00000249014:G307R	ENSP00000249014:G307R	G	+	1	0	CDC42EP1	36294516	0.869000	0.29996	0.002000	0.10522	0.040000	0.13550	5.519000	0.67074	1.188000	0.43014	0.561000	0.74099	GGG		0.692	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		A	37964570	G	A	37964570	3	1	161	1	0	0	0	0	1	0	0	0	3075	1000	35	3	925	3	CDC42EP1	22	37964570	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		37964570	13339996	79	11491											
ZMYM3	9203	broad.mit.edu	37	chrX	70466243	70466243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctccaccttgcaggaGacgccccgattctgcatcag	8	10	8	15	2	4	1	2	0	2	1	5	3	4	1	4	1	2	2	4	1	0	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:70466243G>T	ENST00000353904.2	-	15	2719	c.2532C>A	c.(2530-2532)gtC>gtA	p.V844V	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.V844V|ZMYM3_ENST00000373998.1_Silent_p.V832V|ZMYM3_ENST00000373988.1_Silent_p.V846V|ZMYM3_ENST00000373984.3_Silent_p.V846V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	844					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTTGCAGGAGACGCCCCGAT	0.597																																						uc004dzh.2																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2530-2532)gtC>gtA		Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.							85	65	72					X																	70466243		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466243G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2532C>A	X.37:g.70466243G>T						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.V844V|ZMYM3_uc004dzj.2_Silent_p.V832V	p.V844V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			14	2711	-	Renal(35;0.156)		844					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.2532C>A	CCDS14409.1																																																																																				0.597	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		T	70466243	G	T	70466243	2	4	161	1	0	0	0	0	0	0	0	1	17698	929	33	5		5	ZMYM3	23	70466243	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		70466243	84804317	80	11492											
ERCC6L	54821	broad.mit.edu	37	chrX	71428507	71428507	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttaaatgcttcttccAggtctccattcttagttgct	9	17	6	9	0	3	0	0	0	3	0	5	0	4	0	2	1	2	4	2	1	4	7			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:71428507A>T	ENST00000334463.3	-	2	245	c.110T>A	c.(109-111)cTg>cAg	p.L37Q	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_5'UTR	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	37					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTTCTTCCAGGTCTCCATT	0.363																																						uc004eaq.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(109-111)cTg>cAg		Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.							95	80	85					X																	71428507		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71428507A>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.110T>A	X.37:g.71428507A>T	ENSP00000334675:p.Leu37Gln					PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_5'UTR	p.L37Q	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			1	207	-	Renal(35;0.156)		37					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.110T>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197933	0.38806	.	.	ENSG00000186871	ENST00000334463	D	0.92647	-3.08	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.86218	0.5880	L	0.34521	1.04	0.41332	D	0.987249	P	0.45396	0.857	B	0.36922	0.236	D	0.87493	0.2428	9	0.72032	D	0.01	-4.3447	11.9259	0.52819	1.0:0.0:0.0:0.0	.	37	Q2NKX8	ERC6L_HUMAN	Q	37	ENSP00000334675:L37Q	ENSP00000334675:L37Q	L	-	2	0	ERCC6L	71345232	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.774000	0.75012	1.718000	0.51419	0.486000	0.48141	CTG		0.363	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		T	71428507	A	T	71428507	3	4	161	1	0	0	0	0	1	0	0	0	5218	188	7	5	3646	5	ERCC6L	23	71428507	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	962264	71428507	83842053	81	11493											
SLC6A14	11254	broad.mit.edu	37	chrX	115590033	115590033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatacctggaacaacatcGtggggaaagatataaagaca	17	7	9	8	1	0	2	0	0	0	2	2	4	1	4	2	3	3	0	2	3	7	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:115590033G>A	ENST00000371900.4	+	14	1929	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	614					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAACAACATCGTGGGGAAAGA	0.403																																						uc004eqi.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1840-1842)cGt>cAt		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						125	116	119					X																	115590033		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115590033G>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1841G>A	X.37:g.115590033G>A	ENSP00000360967:p.Arg614His						p.R614H	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			13	1972	+			614					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1841G>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668167	0.88348	.	.	ENSG00000087916	ENST00000371900	T	0.74842	-0.88	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.81683	0.4874	L	0.39245	1.2	0.52099	D	0.999948	D	0.89917	1.0	D	0.91635	0.999	T	0.83097	-0.0130	10	0.72032	D	0.01	.	16.199	0.82057	0.0:0.0:1.0:0.0	.	614	Q9UN76	S6A14_HUMAN	H	614	ENSP00000360967:R614H	ENSP00000360967:R614H	R	+	2	0	SLC6A14	115504061	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	8.785000	0.91822	2.516000	0.84829	0.538000	0.68166	CGT		0.403	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			A	115590033	G	A	115590033	3	1	161	1	0	0	0	0	1	0	0	0	14677	1145	40	1	1895	1	SLC6A14	23	115590033	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	44161526	115590033	39680527	82	11494											
ZNF280C	55609	broad.mit.edu	37	chrX	129339341	129339341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagccatacgatctaagccGgaagaatcagctaggaaatc	15	8	9	9	2	2	1	1	0	1	1	3	4	2	3	2	2	4	1	2	2	7	4	rs375528832		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:129339341G>A	ENST00000370978.4	-	17	2244	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTAAGCCGGAAGAATCAG	0.323																																						uc004evm.3																			0		p.S696Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2089-2091)tcC>tcT		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.		A		0,3835		0,0,0,1632,571	98	84	89		2091	-3.7	0.1	X		89	2,6725		0,1,1,2427,1870	no	coding-synonymous	ZNF280C	NM_017666.4		0,1,1,4059,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189		697/738	129339341	2,10560	2203	4299	6502	SO:0001819	synonymous_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129339341G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2091C>T	X.37:g.129339341G>A							p.S697S	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			16	2294	-			697					A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	c.2091C>T	CCDS14622.1																																																																																				0.323	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		A	129339341	G	A	129339341	2	1	161	1	0	0	0	0	0	0	0	1	17813	1103	39	2		2	ZNF280C	23	129339341	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	13749308	129339341	25931219	83	11495											
F9	2158	broad.mit.edu	37	chrX	138643870	138643870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctgacaaggaatacacGaacatcttcctcaaatttgg	14	11	7	9	1	2	1	1	1	1	0	3	3	3	2	1	2	3	1	1	2	5	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:138643870G>A	ENST00000218099.2	+	8	1033	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	F9_ENST00000394090.2_Silent_p.T304T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	342	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate). {ECO:0000269|PubMed:12604421, ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:9222764}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGGAATACACGAACATCTTCC	0.433																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(1024-1026)acG>acA		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						200	165	177					X																	138643870		2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643870G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1026G>A	X.37:g.138643870G>A						F9_uc004fat.1_Silent_p.T304T	p.T342T	NM_000133	NP_000124	P00740	FA9_HUMAN			7	1055	+	Acute lymphoblastic leukemia(192;0.000127)		342		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.1026G>A	CCDS14666.1																																																																																				0.433	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			A	138643870	G	A	138643870	2	1	161	1	0	0	0	0	0	0	0	1	5351	1045	37	2		2	F9	23	138643870	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	9304529	138643870	16626690	84	11496											
F8	2157	broad.mit.edu	37	chrX	154194774	154194774	+	Frame_Shift_Del	DEL	T	T	-																															agcaatgtaatgtacccaagTtttaggatgcttcttggcaa																								rs387906441		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:154194774delT	ENST00000360256.4	-	8	1398	c.1198delA	c.(1198-1200)actfs	p.T400fs	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	400	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTACCCAAGTTTTAGGATGC	0.448																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1198-1200)actfs		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						150	116	128					X																	154194774		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194774delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1198delA	X.37:g.154194774delT	ENSP00000353393:p.Thr400fs						p.T400fs	NM_000132	NP_000123	P00451	FA8_HUMAN			7	1369	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		400			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.1198delA	CCDS35457.1																																																																																				0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			-	154194774	T	-	154194774	7	5	161	1	0	1	0	1	0	0	0	0	5350	1725	60	0	5961	0	F8	23	154194774	Frame_Shift_Del	DEL	T	TCGA-19-4068-01A-01D-1353-08	15550904	154194774	1075786	85	11497											
RERE	473	broad.mit.edu	37	chr1	8424241	8424242	+	Frame_Shift_Ins	INS	-	-	T																															atgggcgggagctcaccgtaINStttcttgaagtggatgcgac																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:8424241_8424242insT	ENST00000337907.3	-	16	2248_2249	c.1614_1615insA	c.(1612-1617)aaatacfs	p.Y539fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Frame_Shift_Ins_p.Y539fs|RERE_ENST00000377464.1_Frame_Shift_Ins_p.Y271fs|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'Flank	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	539					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCACCGTATTTCTTGAAGT	0.569																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1612-1617)aaatacfs		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424241_8424242insT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1615dupA	1.37:g.8424244_8424244dupT	ENSP00000338629:p.Tyr539fs					RERE_uc001apf.3_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.3_5'UTR	p.K538fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	15	2424_2425	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	538					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Ins	INS	ENST00000337907.3	37	c.1614_1615insA	CCDS95.1																																																																																				0.569	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8424242	-	T	8424241	7	5	162	1	0	1	1	0	0	0	0	0	13231	449	16	0	3121	0	RERE	1	8424241	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08		8424241	240826380	1	11498											
MSH4	4438	broad.mit.edu	37	chr1	76288094	76288094	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catttcttgtgttttgaaagGaataatcacactctctttgg	10	17	7	7	0	3	1	1	1	2	0	4	2	3	2	0	2	0	1	0	2	3	6			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:76288094G>A	ENST00000263187.3	+	7	1094	c.990G>A	c.(988-990)agG>agA	p.R330R		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	330					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTTTTGAAAGGAATAATCACA	0.308								Mismatch excision repair (MMR)																														uc001dhd.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.e7-1	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.							78	81	80					1																	76288094		2203	4296	6499	SO:0001630	splice_region_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76288094G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.990-1G>A	1.37:g.76288094G>A							p.R330_splice	NM_002440	NP_002431	O15457	MSH4_HUMAN			7	1105	+			330					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.990_splice	CCDS670.1																																																																																				0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	Silent	A	76288094	G	A	76288094	5	1	162	1	0	0	0	0	0	0	1	0	9872	1188	41	3	1016	3	MSH4	1	76288094	Splice_Site	SNP	G	TCGA-19-5947-01A-11D-1696-08	67863853	76288094	172962527	2	11499											
RPL5	6125	broad.mit.edu	37	chr1	93303161	93303161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagaaacagttctctcaaTacataaagaacagcgtaact	19	8	5	9	1	2	2	1	0	1	2	3	2	2	2	0	0	5	2	0	0	8	4			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:93303161T>C	ENST00000370321.3	+	6	766	c.676T>C	c.(676-678)Tac>Cac	p.Y226H	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	226					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTTCTCTCAATACATAAAGAA	0.368																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)Tac>Cac		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							27	26	27					1																	93303161		2196	4279	6475	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93303161T>C	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.676T>C	1.37:g.93303161T>C	ENSP00000359345:p.Tyr226His					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.Y176H|RPL5_uc001dpd.3_Missense_Mutation_p.Y27H|SNORA66_uc021opt.1_5'Flank	p.Y226H	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	754	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	226					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.676T>C	CCDS741.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276193	0.80580	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	T	0.65364	-0.15	5.06	5.06	0.68205	.	0.057817	0.64402	D	0.000001	T	0.81442	0.4823	H	0.94734	3.575	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.70016	0.967;0.967	D	0.87185	0.2230	10	0.87932	D	0	.	15.102	0.72288	0.0:0.0:0.0:1.0	.	226;226	A2RUM7;P46777	.;RL5_HUMAN	H	176;226	ENSP00000359345:Y226H	ENSP00000359345:Y226H	Y	+	1	0	RPL5	93075749	1.000000	0.71417	0.893000	0.35052	0.863000	0.49368	7.785000	0.85724	2.017000	0.59298	0.533000	0.62120	TAC		0.368	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		C	93303161	T	C	93303161	3	2	162	1	0	0	0	0	1	0	0	0	13597	1406	49	4	698	4	RPL5	1	93303161	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08	17015067	93303161	155947460	3	11500											
SCYL3	57147	broad.mit.edu	37	chr1	169833511	169833511	+	Splice_Site	DEL	T	T	-																															actttgaaaaagcattcaccTtttttggggccaagcagata																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000367772.4_Splice_Site_p.K318fs|SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						uc001ggs.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.							92	94	94					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			9	1153	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		319					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Frame_Shift_Del	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	-	169833511	T	-	169833511	8	5	162	1	0	1	0	1	0	0	1	0	13949	1623	56	0	1298	0	SCYL3	1	169833511	Splice_Site	DEL	T	TCGA-19-5947-01A-11D-1696-08	76530350	169833511	79417110	4	11501											
GALNT14	79623	broad.mit.edu	37	chr2	31360949	31360949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgacgagtcaggcgccGcatggtcccctttgccgctt	5	8	12	16	5	1	0	1	0	0	0	2	2	2	0	5	2	2	2	5	2	0	2			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:31360949G>A	ENST00000349752.5	-	1	643	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	GALNT14_ENST00000420311.2_5'Flank|GALNT14_ENST00000324589.5_Missense_Mutation_p.R2W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R2W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	2					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTCAGGCGCCGCATGGTCCCC	0.682																																						uc002rns.3																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(4-6)Cgg>Tgg		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.							67	69	69					2																	31360949		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31360949G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.4C>T	2.37:g.31360949G>A	ENSP00000288988:p.Arg2Trp					GALNT14_uc010ymr.2_5'UTR|GALNT14_uc002rnr.3_Missense_Mutation_p.R2W|GALNT14_uc010ezo.2_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron	p.R2W	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN			0	644	-	Acute lymphoblastic leukemia(172;0.155)		2					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.4C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749351	0.69533	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000356174;ENST00000430167	T;T;T;T	0.66280	0.37;-0.06;0.06;-0.2	4.29	-0.385	0.12470	.	.	.	.	.	T	0.60932	0.2307	M	0.67397	2.05	0.80722	D	1	D;D;D	0.64830	0.986;0.994;0.975	B;P;B	0.47744	0.432;0.556;0.249	T	0.62826	-0.6772	9	0.87932	D	0	.	8.1462	0.31113	0.0:0.1297:0.3668:0.5035	.	2;2;2	Q96FL9-2;Q96FL9-3;Q96FL9	.;.;GLT14_HUMAN	W	2	ENSP00000288988:R2W;ENSP00000314500:R2W;ENSP00000348497:R2W;ENSP00000406399:R2W	ENSP00000314500:R2W	R	-	1	2	GALNT14	31214453	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	0.957000	0.29215	0.005000	0.14708	0.313000	0.20887	CGG		0.682	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31360949	G	A	31360949	3	1	162	1	0	0	0	0	1	0	0	0	6212	1086	38	1	1714	1	GALNT14	2	31360949	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08		31360949	211838424	5	11502											
ZAK	51776	broad.mit.edu	37	chr2	174104210	174104210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttcacttgaaaccaGgaactggcccacaggtaaat	12	11	9	9	0	1	1	1	1	0	0	1	2	1	2	2	4	2	2	2	4	4	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:174104210G>A	ENST00000375213.3	+	16	1423	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.G449R|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		449					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CTTGAAACCAGGAACTGGCCC	0.398																																						uc002uhz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1345-1347)Gga>Aga		Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.							58	59	58					2																	174104210		1813	4068	5881	SO:0001583	missense	51776				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr2:174104210G>A																												ENST00000375213.3:c.1345G>A	2.37:g.174104210G>A	ENSP00000364361:p.Gly449Arg					MLK7-AS1_uc002uib.3_Intron	p.G449R	NM_016653	NP_057737	Q14206	RCAN2_HUMAN			15	1545	+			0					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.1345G>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901821	0.72754	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.79141	-1.24;-1.24	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.82242	-0.0554	10	0.52906	T	0.07	.	19.6483	0.95791	0.0:0.0:1.0:0.0	.	449	Q9NYL2	MLTK_HUMAN	R	449	ENSP00000387259:G449R;ENSP00000364361:G449R	ENSP00000364361:G449R	G	+	1	0	AC013461.1	173812456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.017000	0.88712	2.697000	0.92050	0.643000	0.83706	GGA		0.398	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			A	174104210	G	A	174104210	3	1	162	1	0	0	0	0	1	0	0	0	17509	1001	35	3	1788	3	ZAK	2	174104210	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	142743261	174104210	69095163	6	11503											
LMCD1	29995	broad.mit.edu	37	chr3	8574487	8574487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgcaaggggacgtgttCgggcttcgagccacattcat	8	9	15	9	3	1	0	1	0	0	0	3	3	1	2	1	4	2	3	1	4	1	3	rs199520704		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:8574487C>T	ENST00000157600.3	+	2	339	c.107C>T	c.(106-108)tCg>tTg	p.S36L	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.F9F|LMCD1_ENST00000454244.1_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.S36L	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	36	Cys-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGGACGTGTTCGGGCTTCGAG	0.537													C|||	1	0.000199681	0	0.0014	5008	,	,		16681	0		0	False		,,,				2504	0					uc003bqq.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(106-108)tCg>tTg		Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.							156	151	153					3																	8574487		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8574487C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.107C>T	3.37:g.8574487C>T	ENSP00000157600:p.Ser36Leu					LMCD1_uc011atd.2_Intron|LMCD1_uc011ate.2_Silent_p.F9F	p.S36L	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	1	221	+			36			Cys-rich.		B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.107C>T	CCDS33688.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.16	2.452342	0.43531	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732	T;T;T	0.29397	1.57;1.57;1.57	5.39	4.51	0.55191	.	0.468733	0.19668	N	0.108823	T	0.26484	0.0647	L	0.52573	1.65	0.80722	D	1	B	0.27656	0.184	B	0.19391	0.025	T	0.04509	-1.0946	10	0.39692	T	0.17	-10.0403	9.7711	0.40589	0.0:0.8327:0.0:0.1673	.	36	Q9NZU5	LMCD1_HUMAN	L	36;42;36	ENSP00000157600:S36L;ENSP00000400555:S42L;ENSP00000441100:S36L	ENSP00000157600:S36L	S	+	2	0	LMCD1	8549487	0.487000	0.25988	0.339000	0.25562	0.721000	0.41392	1.641000	0.37197	1.276000	0.44395	0.467000	0.42956	TCG		0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		T	8574487	C	T	8574487	3	4	162	1	0	0	0	0	1	0	0	0	8844	893	31	2	113	2	LMCD1	3	8574487	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		8574487	189447943	7	11504											
TLR9	54106	broad.mit.edu	37	chr3	52257538	52257538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacgagggcactccatgCaggggttgggagcgtggtcg	7	7	19	8	3	0	1	0	1	0	0	2	3	1	2	1	5	2	3	1	5	0	1			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:52257538C>A	ENST00000360658.2	-	2	1427	c.794G>T	c.(793-795)tGc>tTc	p.C265F	TLR9_ENST00000494383.1_Silent_p.L418L|TLR9_ENST00000597542.1_Missense_Mutation_p.C289F	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	265					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GCACTCCATGCAGGGGTTGGG	0.617																																						uc003ddb.3																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1084-1086)tGc>tTc		Homo sapiens toll-like receptor 9 (TLR9), mRNA.	Chloroquine(DB00608)						44	38	40					3																	52257538		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257538C>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.794G>T	3.37:g.52257538C>A	ENSP00000353874:p.Cys265Phe					TLR9_uc003dda.2_Missense_Mutation_p.C265F	p.C362F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1295	-			265					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1085G>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504772	0.85176	.	.	ENSG00000239732	ENST00000360658	T	0.28255	1.62	5.38	5.38	0.77491	.	0.000000	0.39687	N	0.001290	T	0.61198	0.2328	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.67405	-0.5679	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	362;265	B4E0A1;Q9NR96	.;TLR9_HUMAN	F	265	ENSP00000353874:C265F	ENSP00000353874:C265F	C	-	2	0	TLR9	52232578	1.000000	0.71417	0.949000	0.38748	0.857000	0.48899	4.615000	0.61190	2.521000	0.84997	0.655000	0.94253	TGC		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			A	52257538	C	A	52257538	3	1	162	1	0	0	0	0	1	0	0	0	15955	710	25	5	2308	5	TLR9	3	52257538	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	43683051	52257538	145764892	8	11505											
SR140	23350	broad.mit.edu	37	chr3	142773820	142773820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatcccccagcccatctcGcagtagcagtggtagacgag	10	7	10	14	2	1	1	0	0	1	1	3	2	2	1	3	1	3	4	3	1	3	3			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:142773820G>A	ENST00000473835.2	+	27	2900	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	U2SURP_ENST00000397933.2_Missense_Mutation_p.R528H|U2SURP_ENST00000493598.2_Missense_Mutation_p.R936H	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	937	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGCCCATCTCGCAGTAGCAGT	0.478																																						uc003evh.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(2809-2811)cGc>cAc		Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.							62	58	59					3																	142773820		1928	4140	6068	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142773820G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2810G>A	3.37:g.142773820G>A	ENSP00000418563:p.Arg937His					U2SURP_uc003evi.1_Missense_Mutation_p.R528H|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.R936H	p.R937H	NM_001080415	NP_001073884	O15042	SR140_HUMAN			26	2909	+			937			Arg/Ser-rich.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.2810G>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430878	0.83776	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.46451	0.87;0.87;0.87	5.74	5.74	0.90152	.	0.097443	0.64402	D	0.000001	T	0.43411	0.1246	L	0.40543	1.245	0.80722	D	1	P;D;P	0.57257	0.948;0.979;0.913	B;P;B	0.45474	0.361;0.482;0.198	T	0.23655	-1.0182	10	0.44086	T	0.13	-4.6453	20.2982	0.98569	0.0:0.0:1.0:0.0	.	936;528;937	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	H	937;937;528;936	ENSP00000418563:R937H;ENSP00000381027:R528H;ENSP00000422011:R936H	ENSP00000322376:R937H	R	+	2	0	U2SURP	144256510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.184000	0.94893	2.873000	0.98535	0.563000	0.77884	CGC		0.478	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		A	142773820	G	A	142773820	3	1	162	1	0	0	0	0	1	0	0	0	15130	1087	38	1	2916	1	SR140	3	142773820	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	90516282	142773820	55248610	9	11506											
PIK3CA	5290	broad.mit.edu	37	chr3	178921548	178921548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctttgtgcaacctacGtgaatgtaaatattcgagac	14	13	7	7	2	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	7	6			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:178921548G>A	ENST00000263967.3	+	5	1187	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V344M(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGCAACCTACGTGAATGTAAA	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		6	Substitution - Missense(6)	p.V344M(9)|p.V344G(5)|p.V344A(3)|p.Y343C(1)	endometrium(4)|ovary(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1030-1032)Gtg>Atg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							68	68	68					3																	178921548		1809	4073	5882	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921548G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1030G>A	3.37:g.178921548G>A	ENSP00000263967:p.Val344Met	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.V344M	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		4	1187	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		344					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1030G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709120	0.89018	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.82765	0.5108	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.83027	-0.0164	10	0.54805	T	0.06	-22.945	19.5423	0.95278	0.0:0.0:1.0:0.0	.	344	P42336	PK3CA_HUMAN	M	344	ENSP00000263967:V344M	ENSP00000263967:V344M	V	+	1	0	PIK3CA	180404242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.358000	0.97109	2.682000	0.91365	0.491000	0.48974	GTG		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178921548	G	A	178921548	3	1	162	1	0	0	0	0	1	0	0	0	11913	1145	40	1	1044	1	PIK3CA	3	178921548	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	36147728	178921548	19100882	10	11507											
PIK3R1	5295	broad.mit.edu	37	chr5	67591152	67591152	+	Splice_Site	DEL	T	T	-																															gacgagagaccaatacttgaTgtaagtatttgaaatggaat																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:67591152delT	ENST00000521381.1	+	13	2361	c.1745delT	c.(1744-1746)atg>ag	p.M582fs	PIK3R1_ENST00000336483.5_Splice_Site_p.M312fs|PIK3R1_ENST00000274335.5_Splice_Site_p.M582fs|PIK3R1_ENST00000396611.1_Splice_Site_p.M582fs|PIK3R1_ENST00000523872.1_Splice_Site_p.M219fs|PIK3R1_ENST00000521657.1_Splice_Site_p.M582fs|PIK3R1_ENST00000320694.8_Splice_Site_p.M282fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	582					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAATACTTGATGTAAGTATTT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - Frameshift(1)|Unknown(1)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|central_nervous_system(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e13+1		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						135	134	135					5																	67591152		2203	4300	6503	SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591152delT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1745+1T>-	5.37:g.67591152delT		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	p.M582_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2325	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	582					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.1745_splice	CCDS3993.1																																																																																				0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Frame_Shift_Del	-	67591152	T	-	67591152	8	5	162	1	0	1	0	1	0	0	1	0	11918	1478	51	0	1921	0	PIK3R1	5	67591152	Splice_Site	DEL	T	TCGA-19-5947-01A-11D-1696-08		67591152	113324108	11	11508											
AFF4	27125	broad.mit.edu	37	chr5	132227876	132227877	+	Frame_Shift_Ins	INS	-	-	G																															ttaacctccttggagctactINSggaagtcttcccttcggtct																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:132227876_132227877insG	ENST00000265343.5	-	13	2995_2996	c.2616_2617insC	c.(2614-2619)tccagtfs	p.S873fs	AFF4_ENST00000378595.3_Frame_Shift_Ins_p.S873fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	873	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGAGCTACTGGAAGTCTTCC	0.47																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.3																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(2614-2619)tccagtfs		Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.																																				SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132227876_132227877insG	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2617dupC	5.37:g.132227878_132227878dupG	ENSP00000265343:p.Ser873fs					AFF4_uc011cxk.2_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs	p.S872fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	3024_3025	-		all_cancers(142;0.145)|Breast(839;0.198)	872			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Ins	INS	ENST00000265343.5	37	c.2616_2617insC	CCDS4164.1																																																																																				0.47	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		G	132227877	-	G	132227876	7	5	162	1	0	1	1	0	0	0	0	0	359	1580	55	0	910	0	AFF4	5	132227876	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08	64636724	132227876	48687384	12	11509											
PCDHA6	56142	broad.mit.edu	37	chr5	140209539	140209539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcagcgctcgcttcccGtttcgcgtggggctgtacac	5	9	13	14	5	0	0	0	0	0	0	3	0	1	0	1	2	3	7	1	2	2	3			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:140209539G>A	ENST00000529310.1	+	1	1977	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1861-1863)ccG>ccA		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							72	76	75					5																	140209539		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140209539G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1863G>A	5.37:g.140209539G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P	p.P621P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1890	+			632			Cadherin 6.		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1863G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140209539	G	A	140209539	2	1	162	1	0	0	0	0	0	0	0	1	11528	1132	40	1		1	PCDHA6	5	140209539	Silent	SNP	G	TCGA-19-5947-01A-11D-1696-08	7981663	140209539	40705721	13	11510											
SH3RF2	153769	broad.mit.edu	37	chr5	145439569	145439569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcctccccctcagccGtggtggtggagatggggtcc	3	9	13	16	1	1	1	1	0	0	1	5	2	5	1	7	5	1	0	7	5	0	0			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:145439569G>A	ENST00000511217.1	+	8	1748	c.1696G>A	c.(1696-1698)Gtg>Atg	p.V566M	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.V566M			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	566					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTCAGCCGTGGTGGTGGA	0.672																																						uc003lnt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1696-1698)Gtg>Atg		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							62	58	60					5																	145439569		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439569G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1696G>A	5.37:g.145439569G>A	ENSP00000424497:p.Val566Met					SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.3_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.2_Missense_Mutation_p.V23M	p.V566M	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1934	+			566					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1696G>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	A	1.061	-0.672990	0.03403	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.18960	2.18;2.18	5.09	-2.49	0.06403	.	1.488470	0.03973	N	0.292065	T	0.13457	0.0326	N	0.22421	0.69	0.09310	N	1	B;B	0.20671	0.013;0.047	B;B	0.11329	0.006;0.005	T	0.28235	-1.0050	10	0.32370	T	0.25	0.3123	6.7443	0.23453	0.4162:0.0:0.4735:0.1103	.	57;566	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	M	566	ENSP00000352028:V566M;ENSP00000424497:V566M	ENSP00000352028:V566M	V	+	1	0	SH3RF2	145419762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.007000	0.12810	-0.465000	0.06953	-1.430000	0.01095	GTG		0.672	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		A	145439569	G	A	145439569	3	1	162	1	0	0	0	0	1	0	0	0	14259	1145	40	1	1726	1	SH3RF2	5	145439569	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	5230030	145439569	35475691	14	11511											
RIMS1	22999	broad.mit.edu	37	chr6	72957754	72957754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagaagatggaaaggcCttccatttctgttatttctc	10	15	7	9	0	3	2	1	0	3	2	6	3	4	3	2	2	0	1	2	2	3	4			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr6:72957754C>A	ENST00000521978.1	+	12	2165	c.2165C>A	c.(2164-2166)cCt>cAt	p.P722H	RIMS1_ENST00000348717.5_Missense_Mutation_p.P722H|RIMS1_ENST00000522291.1_Missense_Mutation_p.P722H|RIMS1_ENST00000517960.1_Missense_Mutation_p.P722H|RIMS1_ENST00000518273.1_Missense_Mutation_p.P722H|RIMS1_ENST00000425662.2_Missense_Mutation_p.P115H|RIMS1_ENST00000517827.1_Missense_Mutation_p.P181H|RIMS1_ENST00000264839.7_Missense_Mutation_p.P722H|RIMS1_ENST00000520567.1_Missense_Mutation_p.P722H|RIMS1_ENST00000401910.3_Missense_Mutation_p.P196H|RIMS1_ENST00000491071.2_Missense_Mutation_p.P722H|RIMS1_ENST00000523963.1_Missense_Mutation_p.P196H	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	722					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGAAAGGCCTTCCATTTCT	0.333																																						uc003pga.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2164-2166)cCt>cAt		Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.							130	122	124					6																	72957754		1813	4073	5886	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72957754C>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2165C>A	6.37:g.72957754C>A	ENSP00000428417:p.Pro722His					RIMS1_uc011dyb.2_Missense_Mutation_p.P348H|RIMS1_uc003pgc.3_Missense_Mutation_p.P348H|RIMS1_uc010kaq.3_Missense_Mutation_p.P196H|RIMS1_uc011dyc.2_Missense_Mutation_p.P196H|RIMS1_uc010kar.3_Missense_Mutation_p.P115H|RIMS1_uc011dyd.2_Missense_Mutation_p.P181H|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H	p.P722H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			11	2242	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	722					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2165C>A	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981824	0.93044	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20069	2.1;2.26;2.17;2.26;2.25;2.24;2.26;2.15;2.26;2.22;2.27;2.19;2.25	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000003	T	0.31358	0.0794	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.984;0.997;0.997;0.979;0.993;0.997;0.962	T	0.05733	-1.0867	10	0.87932	D	0	-15.1679	20.1615	0.98135	0.0:1.0:0.0:0.0	.	181;196;722;181;196;722;722	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.;.;.;.;.;.;RIMS1_HUMAN	H	722;722;722;722;722;722;722;722;722;722;722;722;196;196;115;115;181	ENSP00000430101:P722H;ENSP00000275037:P722H;ENSP00000264839:P722H;ENSP00000429959:P722H;ENSP00000430408:P722H;ENSP00000430502:P722H;ENSP00000430932:P722H;ENSP00000428417:P722H;ENSP00000385649:P196H;ENSP00000428328:P196H;ENSP00000411235:P115H;ENSP00000389503:P115H;ENSP00000428367:P181H	ENSP00000264839:P722H	P	+	2	0	RIMS1	73014475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	CCT		0.333	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	72957754	C	A	72957754	3	1	162	1	0	0	0	0	1	0	0	0	13367	681	24	5	2374	5	RIMS1	6	72957754	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		72957754	98157313	15	11512											
DENND2A	27147	broad.mit.edu	37	chr7	140301861	140301861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgacgttcactgctcCtttattcctctccttctctg	3	16	4	18	2	3	0	1	0	2	0	8	1	6	0	5	0	1	2	5	0	1	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr7:140301861C>T	ENST00000275884.6	-	2	754	c.337G>A	c.(337-339)Gga>Aga	p.G113R	DENND2A_ENST00000537639.1_Missense_Mutation_p.G113R|DENND2A_ENST00000496613.1_Missense_Mutation_p.G113R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G113R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	113					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCACTGCTCCTTTATTCCTC	0.587																																						uc010lnk.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(337-339)Gga>Aga		Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.							178	180	179					7																	140301861		2068	4209	6277	SO:0001583	missense	27147							g.chr7:140301861C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.337G>A	7.37:g.140301861C>T	ENSP00000275884:p.Gly113Arg					DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G113R|DENND2A_uc003vvw.3_Missense_Mutation_p.G113R|DENND2A_uc003vvx.3_Missense_Mutation_p.G113R	p.G113R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			2	857	-	Melanoma(164;0.00956)		113					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.337G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601362	0.28534	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.13	2.33	0.28932	.	1.407880	0.04144	N	0.320113	T	0.60340	0.2261	N	0.08118	0	0.09310	N	1	P;B	0.41524	0.753;0.012	B;B	0.37304	0.246;0.027	T	0.55976	-0.8055	10	0.62326	D	0.03	-1.909	6.3411	0.21322	0.0:0.64:0.1329:0.2271	.	113;113	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	R	113	ENSP00000275884:G113R;ENSP00000442245:G113R;ENSP00000419654:G113R;ENSP00000419464:G113R;ENSP00000418844:G113R	ENSP00000275884:G113R	G	-	1	0	DENND2A	139948330	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	1.619000	0.36965	0.318000	0.23185	0.655000	0.94253	GGA		0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140301861	C	T	140301861	3	4	162	1	0	0	0	0	1	0	0	0	4429	690	24	3	2764	3	DENND2A	7	140301861	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		140301861	18836802	16	11513											
RAG2	5897	broad.mit.edu	37	chr11	36615451	36615451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctccatggatgatgtattGatgcttttcagactccaagc	9	13	8	11	0	1	3	1	2	0	1	3	4	3	4	3	1	2	2	3	1	2	4	rs149769148		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:36615451G>C	ENST00000311485.3	-	2	429	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	90					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATGATGTATTGATGCTTTTCA	0.413									Familial Hemophagocytic Lymphohistiocytosis																													uc021qge.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(268-270)Caa>Gaa		Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.		G	GLU/GLN	0,4404		0,0,2202	156	158	157		268	3.8	1	11	dbSNP_134	157	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG2	NM_000536.3	29	0,1,6499	CC,CG,GG		0.0116,0.0,0.0077	benign	90/528	36615451	1,12999	2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615451G>C	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.268C>G	11.37:g.36615451G>C	ENSP00000308620:p.Gln90Glu					RAG2_uc021qgc.1_Missense_Mutation_p.Q90E|RAG2_uc021qgd.1_Missense_Mutation_p.Q90E|RAG2_uc001mwv.4_Missense_Mutation_p.Q90E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	p.Q90E	NM_001243786	NP_001230715	P55895	RAG2_HUMAN			0	268	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	90					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.268C>G	CCDS7903.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.64	1.700138	0.30142	0.0	1.16E-4	ENSG00000175097	ENST00000311485;ENST00000529083	T;T	0.73575	-0.76;-0.73	5.73	3.79	0.43588	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.259107	0.39985	N	0.001208	T	0.80984	0.4729	M	0.92219	3.285	0.39817	D	0.97278	B	0.10296	0.003	B	0.13407	0.009	T	0.80167	-0.1495	10	0.66056	D	0.02	-25.9494	16.1002	0.81166	0.0:0.2533:0.7467:0.0	.	90	P55895	RAG2_HUMAN	E	90	ENSP00000308620:Q90E;ENSP00000436327:Q90E	ENSP00000308620:Q90E	Q	-	1	0	RAG2	36572027	0.991000	0.36638	0.984000	0.44739	0.888000	0.51559	2.473000	0.45145	0.704000	0.31869	0.650000	0.86243	CAA		0.413	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		C	36615451	G	C	36615451	3	2	162	1	0	0	0	0	1	0	0	0	13005	1299	45	5	1319	5	RAG2	11	36615451	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08		36615451	98391065	17	11514											
KDELC2	143888	broad.mit.edu	37	chr11	108361783	108361783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgacagtttcatacatcCtatatctcatcaaaaatgtt	14	14	3	10	1	3	0	3	0	1	0	6	1	4	0	1	0	1	2	1	0	5	5	rs201945088		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:108361783C>T	ENST00000323468.5	-	2	379	c.314G>A	c.(313-315)aGg>aAg	p.R105K	KDELC2_ENST00000434945.2_Missense_Mutation_p.R49K|KDELC2_ENST00000375648.1_Missense_Mutation_p.R49K	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	105						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TTCATACATCCTATATCTCAT	0.388																																						uc001pkj.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(313-315)aGg>aAg		Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.							103	100	101					11																	108361783		1924	4139	6063	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108361783C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.314G>A	11.37:g.108361783C>T	ENSP00000315386:p.Arg105Lys					KDELC2_uc001pki.2_Missense_Mutation_p.R49K	p.R105K	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	1	380	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	105					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.314G>A	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481721	0.26598	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.22134	1.97;2.27;2.54	5.05	4.07	0.47477	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	L	0.42686	1.345	0.49915	D	0.999834	B;B	0.32893	0.02;0.389	B;B	0.43478	0.135;0.421	T	0.02238	-1.1190	10	0.14252	T	0.57	-18.298	14.0667	0.64834	0.0:0.9162:0.0:0.0838	.	105;49	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	K	105;49;49	ENSP00000315386:R105K;ENSP00000413429:R49K;ENSP00000364799:R49K	ENSP00000315386:R105K	R	-	2	0	KDELC2	107866993	1.000000	0.71417	0.153000	0.22517	0.313000	0.28021	5.579000	0.67457	2.640000	0.89533	0.561000	0.74099	AGG		0.388	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		T	108361783	C	T	108361783	3	4	162	1	0	0	0	0	1	0	0	0	8118	681	24	3	1237	3	KDELC2	11	108361783	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	71746332	108361783	26644733	18	11515											
ESAM	90952	broad.mit.edu	37	chr11	124623728	124623728	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtgggggtcaatgcAccaggcctgggagggccatg	6	6	19	10	1	1	0	1	0	0	0	1	1	1	1	3	6	1	1	3	6	1	0			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:124623728A>C	ENST00000278927.5	-	7	1116	c.987T>G	c.(985-987)ggT>ggG	p.G329G	ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	329					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGTCAATGCACCAGGCCTGG	0.647																																						uc001qav.4																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(985-987)ggT>ggG		Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.							58	67	64					11																	124623728		2201	4299	6500	SO:0001819	synonymous_variant	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124623728A>C	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.987T>G	11.37:g.124623728A>C						VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Silent_p.G256G|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	p.G329G	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	6	1160	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	329					B4DVN8|Q96T50	Silent	SNP	ENST00000278927.5	37	c.987T>G	CCDS8453.1																																																																																				0.647	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		C	124623728	A	C	124623728	2	2	162	1	0	0	0	0	0	0	0	1	5247	146	6	5		5	ESAM	11	124623728	Silent	SNP	A	TCGA-19-5947-01A-11D-1696-08	16261945	124623728	10382788	19	11516											
ANKRD33	341405	broad.mit.edu	37	chr12	52284586	52284586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccttcactcctagaaCggctgcaggctaccttgagc	7	10	9	15	1	1	2	1	1	0	1	2	2	2	2	4	2	5	3	4	2	3	5	rs200291062		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr12:52284586C>T	ENST00000340970.4	+	5	852	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.R92W|ANKRD33_ENST00000301190.6_Missense_Mutation_p.R286W			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	161					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCCTAGAACGGCTGCAGGC	0.662																																						uc001rzd.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(856-858)Cgg>Tgg		Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	25	24	24		481,856	0.1	0.6	12		24	4,8590		0,4,4293	yes	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	101,101	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	161/273,286/453	52284586	4,12996	2203	4297	6500	SO:0001583	missense	341405							g.chr12:52284586C>T		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.481C>T	12.37:g.52284586C>T	ENSP00000344690:p.Arg161Trp					ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.R161W|ANKRD33_uc001rze.3_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.4_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.4_Missense_Mutation_p.R161W	p.R286W	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	4	1034	+			161					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.856C>T	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419121	0.42918	0.0	4.65E-4	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.24908	1.93;1.83;2.28	4.7	0.0507	0.14294	.	0.080339	0.47455	D	0.000234	T	0.39655	0.1086	L	0.55481	1.735	0.21473	N	0.999672	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.965;0.984;0.977	T	0.22836	-1.0205	10	0.37606	T	0.19	-7.9632	11.629	0.51162	0.7308:0.2692:0.0:0.0	.	161;92;286	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	W	286;92;161	ENSP00000301190:R286W;ENSP00000443722:R92W;ENSP00000344690:R161W	ENSP00000301190:R286W	R	+	1	2	ANKRD33	50570853	0.279000	0.24239	0.605000	0.28930	0.607000	0.37147	0.456000	0.21859	0.192000	0.20272	0.561000	0.74099	CGG		0.662	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52284586	C	T	52284586	3	4	162	1	0	0	0	0	1	0	0	0	661	527	19	1	904	1	ANKRD33	12	52284586	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		52284586	81567309	20	11517											
IGDCC3	9543	broad.mit.edu	37	chr15	65621380	65621380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcagggagccgtggccTctgtggtcttcgcctccgtc	2	9	15	15	5	2	0	0	0	2	0	5	1	3	1	4	4	1	1	4	4	0	1			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr15:65621380T>A	ENST00000327987.4	-	14	2563	c.2312A>T	c.(2311-2313)gAg>gTg	p.E771V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	771					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGTGGCCTCTGTGGTCTT	0.716																																						uc002aos.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2311-2313)gAg>gTg		Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.							16	21	19					15																	65621380		2200	4299	6499	SO:0001583	missense	9543							g.chr15:65621380T>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2312A>T	15.37:g.65621380T>A	ENSP00000332773:p.Glu771Val					IGDCC3_uc002aor.1_Missense_Mutation_p.E57V	p.E771V	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			13	2564	-			771					O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.2312A>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	6.693	0.496552	0.12762	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66815	-0.23	.	.	.	.	0.542417	0.15481	N	0.260109	T	0.49406	0.1555	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.36792	-0.9733	6	0.28530	T	0.3	-10.9933	.	.	.	.	771	Q8IVU1	IGDC3_HUMAN	V	771;594	ENSP00000332773:E771V	ENSP00000332773:E771V	E	-	2	0	IGDCC3	63408433	0.500000	0.26091	0.025000	0.17156	0.029000	0.11900	0.077000	0.14738	0.056000	0.16144	0.055000	0.15244	GAG		0.716	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65621380	T	A	65621380	3	1	162	1	0	0	0	0	1	0	0	0	7568	1551	54	5	136	5	IGDCC3	15	65621380	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08		65621380	36910012	21	11518											
RBBP6	5930	broad.mit.edu	37	chr16	24581255	24581256	+	Frame_Shift_Ins	INS	-	-	A																															atcttcctctcagaaggatgINSaaaaaatcactggaaccccc																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:24581255_24581256insA	ENST00000319715.4	+	17	3676_3677	c.3244_3245insA	c.(3244-3246)gaafs	p.E1082fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.E1048fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1082	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCAGAAGGATGAAAAAATCACT	0.406																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3244-3246)gaafs		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581255_24581256insA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3250dupA	16.37:g.24581261_24581261dupA	ENSP00000317872:p.Glu1082fs					RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E915fs	p.E1082fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	16	4284_4285	+			1082			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	c.3244_3245insA	CCDS10621.1																																																																																				0.406	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		A	24581256	-	A	24581255	7	5	162	1	0	1	1	0	0	0	0	0	13103	1291	45	0	3364	0	RBBP6	16	24581255	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08		24581255	65773498	22	11519											
CES3	23491	broad.mit.edu	37	chr16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggttacagtccagtacCgccttggggtccttggcttc	4	13	12	12	2	0	0	0	0	0	0	4	0	2	0	4	4	2	3	4	4	2	5	rs148620443		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:66997813C>T	ENST00000303334.4	+	4	606	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_ENST00000394037.1_Missense_Mutation_p.R179C|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	179						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													c|||	1	0.000199681	0	0	5008	,	,		19924	0		0.001	False		,,,				2504	0					uc002eqt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(535-537)Cgc>Tgc		Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	138	122	127		535,535	2	0.8	16	dbSNP_134	127	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	CES3	NM_001185177.1,NM_024922.5	180,180	0,9,6491	TT,TC,CC		0.0814,0.0455,0.0692	probably-damaging,probably-damaging	179/569,179/572	66997813	9,12991	2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66997813C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.535C>T	16.37:g.66997813C>T	ENSP00000304782:p.Arg179Cys					CES3_uc010cdz.3_Missense_Mutation_p.R179C	p.R179C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	3	614	+		Ovarian(137;0.0563)	179					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.535C>T	CCDS10826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.10	3.547802	0.65311	4.55E-4	8.14E-4	ENSG00000172828	ENST00000303334;ENST00000394037	D;D	0.90788	-2.73;-2.73	4.15	2.02	0.26589	Carboxylesterase, type B (1);	0.198539	0.25319	N	0.031529	D	0.96294	0.8791	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94029	0.7299	10	0.87932	D	0	.	5.0707	0.14606	0.345:0.5464:0.0:0.1086	.	179	Q6UWW8	EST3_HUMAN	C	179	ENSP00000304782:R179C;ENSP00000377602:R179C	ENSP00000304782:R179C	R	+	1	0	CES3	65555314	0.998000	0.40836	0.784000	0.31847	0.026000	0.11368	1.740000	0.38228	1.086000	0.41228	0.609000	0.83330	CGC		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		T	66997813	C	T	66997813	3	4	162	1	0	0	0	0	1	0	0	0	3271	652	23	2	549	2	CES3	16	66997813	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	42416558	66997813	23356940	23	11520											
SSTR2	6752	broad.mit.edu	37	chr17	71166297	71166297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcaacgtttcttccgTctccatggccatcagcccca	8	12	5	16	2	4	0	2	0	2	0	6	0	5	0	5	1	2	1	5	1	2	4			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr17:71166297T>C	ENST00000357585.2	+	2	1208	c.839T>C	c.(838-840)gTc>gCc	p.V280A	SSTR2_ENST00000315332.2_Missense_Mutation_p.V280A|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	280					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTTTCTTCCGTCTCCATGGCC	0.512																																						uc002jje.3																			0		p.V280I(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(838-840)gTc>gCc		Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.							213	175	188					17																	71166297		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166297T>C		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.839T>C	17.37:g.71166297T>C	ENSP00000350198:p.Val280Ala					SSTR2_uc021ucm.1_Missense_Mutation_p.V280A	p.V280A	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	1199	+			280					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.839T>C	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576464	0.45902	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.36520	1.25;1.25	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	L	0.28014	0.82	0.80722	D	1	P	0.36171	0.541	P	0.49953	0.627	T	0.24440	-1.0160	10	0.32370	T	0.25	.	15.2552	0.73579	0.0:0.0:0.0:1.0	.	280	P30874	SSR2_HUMAN	A	280	ENSP00000350198:V280A;ENSP00000326616:V280A	ENSP00000326616:V280A	V	+	2	0	SSTR2	68677892	1.000000	0.71417	0.465000	0.27155	0.496000	0.33645	8.036000	0.88901	2.084000	0.62774	0.533000	0.62120	GTC		0.512	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			C	71166297	T	C	71166297	3	2	162	1	0	0	0	0	1	0	0	0	15197	1667	58	4	841	4	SSTR2	17	71166297	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08		71166297	10028913	24	11521											
CDH19	28513	broad.mit.edu	37	chr18	64178924	64178925	+	Splice_Site	INS	-	-	A																															actgatagtctgaattacctINSaaaaaaaaagggggatagat																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:64178924_64178925insA	ENST00000262150.2	-	10	1751		c.e10-2		CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGAATTACCTAAAAAAAAAGG	0.317																																						uc002lkc.1																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.e10-1		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.				8,4256		0,8,2124						4.9	1			66	12,8234		0,12,4111	no	splice-3	CDH19	NM_021153.2		0,20,6235	A1A1,A1R,RR		0.1455,0.1876,0.1599				20,12490				SO:0001630	splice_region_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178924_64178925insA	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1459-2->T	18.37:g.64178933_64178933dupA						CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron	p.V487_splice	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1597	-		Esophageal squamous(42;0.0132)	487			Cadherin 5.		O15098	Splice_Site	INS	ENST00000262150.2	37	c.1459_splice	CCDS11994.1																																																																																				0.317	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153	Intron	A	64178925	-	A	64178924	8	5	162	1	0	1	1	0	0	0	1	0	3104	1536	53	0	873	0	CDH19	18	64178924	Splice_Site	INS	-	TCGA-19-5947-01A-11D-1696-08		64178924	13898324	25	11522											
ZNF516	9658	broad.mit.edu	37	chr18	74091275	74091275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcgatgacggtgggcGtaggggtggcgctcctgctg	3	7	20	11	5	0	1	0	1	0	0	1	2	1	1	2	6	1	3	2	6	1	1	rs370362208		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:74091275G>A	ENST00000443185.2	-	4	3112	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	932					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T932M(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GACGGTGGGCGTAGGGGTGGC	0.726																																						uc021ulp.1																			1	Substitution - Missense(1)	p.T932M(2)	central_nervous_system(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2794-2796)aCg>aTg		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.		G	MET/THR	0,3554		0,0,1777	14	18	17		2795	3.2	0.2	18		17	2,7742		0,2,3870	no	missense	ZNF516	NM_014643.3	81	0,2,5647	AA,AG,GG		0.0258,0.0,0.0177	possibly-damaging	932/1164	74091275	2,11296	1777	3872	5649	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091275G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2795C>T	18.37:g.74091275G>A	ENSP00000394757:p.Thr932Met					ZNF516_uc002lmd.3_Non-coding_Transcript	p.T932M	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3113	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	932						Missense_Mutation	SNP	ENST00000443185.2	37	c.2795C>T		.	.	.	.	.	.	.	.	.	.	G	10.43	1.346879	0.24426	0.0	2.58E-4	ENSG00000101493	ENST00000443185	T	0.10960	2.82	4.13	3.25	0.37280	.	0.353403	0.25968	N	0.027147	T	0.10680	0.0261	.	.	.	0.18873	N	0.999982	P	0.52316	0.952	B	0.40477	0.33	T	0.11060	-1.0603	9	0.87932	D	0	-9.6177	12.7492	0.57298	0.0:0.1645:0.8354:0.0	.	932	Q92618	ZN516_HUMAN	M	932	ENSP00000394757:T932M	ENSP00000394757:T932M	T	-	2	0	ZNF516	72220263	0.655000	0.27376	0.171000	0.22900	0.545000	0.35147	2.655000	0.46707	1.088000	0.41272	0.491000	0.48974	ACG		0.726	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		A	74091275	G	A	74091275	3	1	162	1	0	0	0	0	1	0	0	0	17957	1145	40	1	713	1	ZNF516	18	74091275	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	9912351	74091275	3985973	26	11523											
ZNF135	7694	broad.mit.edu	37	chr19	58578313	58578313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcacgcctgtgaagaCgcctgttctggagcagtggc	6	9	14	12	2	2	2	1	1	1	1	2	3	2	3	3	3	1	2	3	3	1	2			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr19:58578313C>T	ENST00000313434.5	+	5	562	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ZNF135_ENST00000439855.2_Missense_Mutation_p.T154M|ZNF135_ENST00000401053.4_Missense_Mutation_p.T178M|ZNF135_ENST00000511556.1_Missense_Mutation_p.T166M|ZNF135_ENST00000506786.1_Missense_Mutation_p.T112M|ZNF135_ENST00000359978.6_Missense_Mutation_p.T166M	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	154					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T178K(1)|p.T154K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGTGAAGACGCCTGTTCTG	0.557																																						uc002qrg.3																			2	Substitution - Missense(2)	p.T178K(1)|p.T154K(1)	lung(2)	breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(532-534)aCg>aTg		Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.							76	65	69					19																	58578313		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578313C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.461C>T	19.37:g.58578313C>T	ENSP00000321406:p.Thr154Met					ZNF135_uc002qre.3_Missense_Mutation_p.T154M|ZNF135_uc002qrf.3_Missense_Mutation_p.T112M|ZNF135_uc010yhq.2_Missense_Mutation_p.T166M|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.T166M|ZNF135_uc021vcu.1_Intron	p.T178M	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	3	536	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	166					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.533C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.033632|2.033632	0.35893|0.35893	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.06449	.|3.38;3.48;3.42;3.42;3.4;3.3	3.48|3.48	-3.58|-3.58	0.04597|0.04597	.|.	.|.	.|.	.|.	.|.	T|T	0.04048|0.04048	0.0113|0.0113	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.50443	.|0.935;0.935;0.935	.|B;B;B	.|0.38842	.|0.211;0.211;0.283	T|T	0.33879|0.33879	-0.9851|-0.9851	5|9	.|0.40728	.|T	.|0.16	.|.	3.2158|3.2158	0.06699|0.06699	0.4149:0.2279:0.0:0.3572|0.4149:0.2279:0.0:0.3572	.|.	.|166;154;166	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	C|M	172|166;178;166;154;154;166;112	.|ENSP00000441410:T178M;ENSP00000369437:T166M;ENSP00000444828:T154M;ENSP00000321406:T154M;ENSP00000422074:T166M;ENSP00000427691:T112M	.|ENSP00000321406:T154M	R|T	+|+	1|2	0|0	ZNF135|ZNF135	63270125|63270125	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.422000|-0.422000	0.07043|0.07043	-0.348000|-0.348000	0.08286|0.08286	-0.321000|-0.321000	0.08615|0.08615	CGC|ACG		0.557	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		T	58578313	C	T	58578313	3	4	162	1	0	0	0	0	1	0	0	0	17722	536	19	1	664	1	ZNF135	19	58578313	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		58578313	550670	27	11524											
SEMG2	6407	broad.mit.edu	37	chr20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcatacccgtcttcaCgtacagaagaaagacaactt	17	9	5	10	2	3	3	2	0	1	3	3	3	3	3	1	0	3	1	1	0	7	5	rs140069155	byFrequency	TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr20:43851147C>T	ENST00000372769.3	+	2	964	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.R292S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													C|||	3	0.000599042	0	0	5008	,	,		23488	0.001		0.002	False		,,,				2504	0					uc010ggz.3																			1	Substitution - Missense(1)	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)	lung(1)	autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(874-876)Cgt>Tgt		Homo sapiens semenogelin II (SEMG2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	94	88	90		874	-1.7	0	20	dbSNP_134	90	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SEMG2	NM_003008.2	180	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	possibly-damaging	292/583	43851147	5,13001	2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851147C>T		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.874C>T	20.37:g.43851147C>T	ENSP00000361855:p.Arg292Cys					SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			1	931	+		Myeloproliferative disorder(115;0.0122)	292			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.874C>T	CCDS13346.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.34	1.610816	0.28712	0.0	5.81E-4	ENSG00000124157	ENST00000372769	T	0.06449	3.3	1.28	-1.66	0.08265	.	.	.	.	.	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	D;D;D	0.67145	0.992;0.996;0.996	P;P;P	0.57283	0.817;0.806;0.806	T	0.32561	-0.9902	9	0.72032	D	0.01	.	5.7337	0.18055	0.4022:0.5978:0.0:0.0	.	292;292;292	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	C	292	ENSP00000361855:R292C	ENSP00000361855:R292C	R	+	1	0	SEMG2	43284561	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.512000	0.00446	-0.525000	0.06391	-0.335000	0.08231	CGT		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		T	43851147	C	T	43851147	3	4	162	1	0	0	0	0	1	0	0	0	14045	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		43851147	19174373	28	11525											
CXorf66	347487	broad.mit.edu	37	chrX	139038184	139038184	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcacatgatcaccgtaTgcattgttcctggaatctaa	11	14	6	10	1	4	1	3	1	1	0	5	2	5	2	2	1	1	3	2	1	3	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:139038184T>C	ENST00000370540.1	-	3	980	c.957A>G	c.(955-957)gcA>gcG	p.A319A		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	319						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATCACCGTATGCATTGTTCC	0.383																																						uc004fbb.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(955-957)gcA>gcG		Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.							220	184	196					X																	139038184		2203	4300	6503	SO:0001819	synonymous_variant	347487					integral to membrane		g.chrX:139038184T>C		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.957A>G	X.37:g.139038184T>C							p.A319A	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			2	979	-			319						Silent	SNP	ENST00000370540.1	37	c.957A>G	CCDS35411.1																																																																																				0.383	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		C	139038184	T	C	139038184	2	2	162	1	0	0	0	0	0	0	0	1	4118	1451	51	4		4	CXorf66	23	139038184	Silent	SNP	T	TCGA-19-5947-01A-11D-1696-08		139038184	16232376	29	11526											
UBE2NL	389898	broad.mit.edu	37	chrX	142967295	142967295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaccagatgaaagcaaCgcccgttattttcatgtggt	12	10	10	9	2	1	3	1	1	0	2	1	3	1	3	2	1	3	3	2	1	4	3			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:142967295C>T	ENST00000370494.1	+	1	123	c.93C>T	c.(91-93)aaC>aaT	p.N31N		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	31						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAGCAACGCCCGTTATT	0.493																																						uc004fca.3																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(91-93)aaC>aaT		Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.							85	82	83					X																	142967295		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967295C>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.93C>T	X.37:g.142967295C>T							p.N31N	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			0	123	+	Acute lymphoblastic leukemia(192;6.56e-05)		31					E9KL27	Silent	SNP	ENST00000370494.1	37	c.93C>T	CCDS35420.1																																																																																				0.493	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		T	142967295	C	T	142967295	2	4	162	1	0	0	0	0	0	0	0	1	16864	535	19	1		1	UBE2NL	23	142967295	Silent	SNP	C	TCGA-19-5947-01A-11D-1696-08	3929111	142967295	12303265	30	11527											
EPHA8	2046	broad.mit.edu	37	chr1	22903296	22903296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaagatgtactgcagcgCggagggcgagtggctcgtgc	8	6	16	11	4	0	1	0	0	0	1	1	3	0	2	1	3	4	3	1	3	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:22903296C>T	ENST00000166244.3	+	3	818	c.746C>T	c.(745-747)gCg>gTg	p.A249V	EPHA8_ENST00000374644.4_Missense_Mutation_p.A249V|EPHA8_ENST00000538803.1_Missense_Mutation_p.A249V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	249	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTGCAGCGCGGAGGGCGAG	0.687																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(745-747)gCg>gTg		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							43	43	43					1																	22903296		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903296C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.746C>T	1.37:g.22903296C>T	ENSP00000166244:p.Ala249Val					EPHA8_uc001bfw.3_Missense_Mutation_p.A249V	p.A249V	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	871	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	249			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.746C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819262	0.71028	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.74315	-0.83;5.01;5.01	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.72576	2.205	0.51767	D	0.999934	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.963	D	0.84478	0.0603	10	0.41790	T	0.15	.	15.0354	0.71741	0.0:1.0:0.0:0.0	.	249;249	P29322;P29322-2	EPHA8_HUMAN;.	V	249	ENSP00000166244:A249V;ENSP00000363775:A249V;ENSP00000440274:A249V	ENSP00000166244:A249V	A	+	2	0	EPHA8	22775883	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.854000	0.69503	2.103000	0.63969	0.442000	0.29010	GCG		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22903296	C	T	22903296	3	4	163	1	0	0	0	0	1	0	0	0	5173	768	27	1	756	1	EPHA8	1	22903296	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		22903296	226347325	1	11528											
TSSK3	81629	broad.mit.edu	37	chr1	32828323	32828323	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggactttctgctctcCaatgggtaccagctgggcaa	9	10	12	10	0	2	0	0	0	2	0	3	2	2	2	2	4	3	4	2	4	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:32828323C>A	ENST00000373534.3	+	1	526	c.21C>A	c.(19-21)tcC>tcA	p.S7S	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	7					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTCTGCTCTCCAATGGGTACC	0.502																																						uc001bvf.3																			0				NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15						c.(19-21)tcC>tcA		Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.							97	104	101					1																	32828323		2203	4300	6503	SO:0001819	synonymous_variant	81629				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:32828323C>A	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"serine/threonine kinase 22C (spermiogenesis associated)"	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.21C>A	1.37:g.32828323C>A						LOC100128071_uc021oku.1_5'Flank	p.S7S	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN			0	462	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	7					Q5TEE5	Silent	SNP	ENST00000373534.3	37	c.21C>A	CCDS362.1																																																																																				0.502	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1			A	32828323	C	A	32828323	2	1	163	1	0	0	0	0	0	0	0	1	16667	581	21	5		5	TSSK3	1	32828323	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	9925027	32828323	216422298	2	11529											
GRIK3	2899	broad.mit.edu	37	chr1	37356541	37356541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttttggtcgcctcgaagCtgtcatggaagtgaatcctc	7	13	10	11	2	1	1	1	1	0	0	5	3	2	2	3	2	1	1	3	2	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:37356541C>G	ENST00000373091.3	-	2	288	c.272G>C	c.(271-273)aGc>aCc	p.S91T	GRIK3_ENST00000373093.4_Missense_Mutation_p.S91T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	91					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGCCTCGAAGCTGTCATGGAA	0.527																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(271-273)aGc>aCc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						252	189	210					1																	37356541		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356541C>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.272G>C	1.37:g.37356541C>G	ENSP00000362183:p.Ser91Thr					GRIK3_uc001cba.1_Missense_Mutation_p.S91T	p.S91T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			1	407	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	91					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.272G>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351833	0.95830	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22539	1.95;1.95	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.83953	2.67	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.39738	0.308;0.308	T	0.41822	-0.9487	10	0.72032	D	0.01	.	20.1224	0.97967	0.0:1.0:0.0:0.0	.	91;91	A9Z1Z8;Q13003	.;GRIK3_HUMAN	T	91	ENSP00000362183:S91T;ENSP00000362185:S91T	ENSP00000362183:S91T	S	-	2	0	GRIK3	37129128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.749000	0.94314	0.650000	0.86243	AGC		0.527	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		G	37356541	C	G	37356541	3	3	163	1	0	0	0	0	1	0	0	0	6775	797	28	5	2547	5	GRIK3	1	37356541	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	4528218	37356541	211894080	3	11530											
SDC1	6382	broad.mit.edu	37	chr2	20403674	20403674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctgtgtggggagtgTgaaggtcagcttggctgggt	5	12	17	7	0	2	1	1	1	1	0	3	2	3	2	1	5	1	2	1	5	1	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr2:20403674T>C	ENST00000254351.4	-	3	771	c.527A>G	c.(526-528)cAc>cGc	p.H176R	SDC1_ENST00000381150.1_Missense_Mutation_p.H176R|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	176					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTGGGGAGTGTGAAGGTCAGC	0.662																																						uc002rdo.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(526-528)cAc>cGc		Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.							104	99	101					2																	20403674		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20403674T>C	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.527A>G	2.37:g.20403674T>C	ENSP00000254351:p.His176Arg					SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.3_Intron	p.H176R	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	826	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		176					D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.527A>G	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306808	0.23821	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000429035	T;T;T	0.31769	2.34;2.34;1.48	3.44	1.01	0.19927	.	1.434210	0.04318	N	0.350120	T	0.36138	0.0956	M	0.63428	1.95	0.09310	N	1	B	0.34181	0.44	B	0.40782	0.34	T	0.37103	-0.9720	10	0.87932	D	0	-0.0099	3.4349	0.07442	0.0:0.1265:0.2374:0.6361	.	176	P18827	SDC1_HUMAN	R	176;176;184	ENSP00000254351:H176R;ENSP00000370542:H176R;ENSP00000400773:H184R	ENSP00000254351:H176R	H	-	2	0	SDC1	20267155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.211000	0.17474	0.214000	0.20742	0.459000	0.35465	CAC		0.662	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		C	20403674	T	C	20403674	3	2	163	1	0	0	0	0	1	0	0	0	13951	1696	59	4	417	4	SDC1	2	20403674	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08		20403674	222795699	4	11531											
KCNH8	131096	broad.mit.edu	37	chr3	19574895	19574895	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccacataggtaacaacAttgactcaggaagtttctca	14	11	6	10	0	2	1	2	1	1	0	4	2	3	2	1	2	2	2	1	2	5	5	rs199880222		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:19574895A>G	ENST00000328405.2	+	16	2894	c.2628A>G	c.(2626-2628)acA>acG	p.T876T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	876					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGGTAACAACATTGACTCAGG	0.413													A|||	1	0.000199681	8e-04	0	5008	,	,		18651	0		0	False		,,,				2504	0				NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2626-2628)acA>acG		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							80	73	76					3																	19574895		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19574895A>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2628A>G	3.37:g.19574895A>G						KCNH8_uc010hex.1_Silent_p.T337T	p.T876T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	2823	+			876					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.2628A>G	CCDS2632.1																																																																																				0.413	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		G	19574895	A	G	19574895	2	3	163	1	0	0	0	0	0	0	0	1	8038	204	8	4		4	KCNH8	3	19574895	Silent	SNP	A	TCGA-19-5950-01A-11D-1696-08		19574895	178447535	5	11532											
ERC2	26059	broad.mit.edu	37	chr3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggagaccttggcaaaCgaggggatctggaagggcta	13	5	16	7	2	1	1	0	0	1	1	1	6	1	3	1	6	2	2	1	6	4	2	rs200184138		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:56468977C>T	ENST00000288221.6	-	2	314	c.59G>A	c.(58-60)cGt>cAt	p.R20H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	20						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R20H(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													C|||	1	0.000199681	0	0	5008	,	,		17910	0.001		0	False		,,,				2504	0					uc021wzo.1																			2	Substitution - Missense(2)	p.R20H(3)	breast(2)	breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(58-60)cGt>cAt		Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.		C	HIS/ARG	1,3825		0,1,1912	98	94	95		59	5.5	1	3		95	1,8245		0,1,4122	no	missense	ERC2	NM_015576.1	29	0,2,6034	TT,TC,CC		0.0121,0.0261,0.0166	probably-damaging	20/958	56468977	2,12070	1913	4123	6036	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468977C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.59G>A	3.37:g.56468977C>T	ENSP00000288221:p.Arg20His					ERC2_uc003dhr.1_Missense_Mutation_p.R20H	p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	0	199	-			20					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.59G>A	CCDS46851.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.8	4.954224	0.92726	2.61E-4	1.21E-4	ENSG00000187672	ENST00000288221	T	0.57273	0.41	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70208	-0.4935	10	0.87932	D	0	-13.9449	19.6793	0.95956	0.0:1.0:0.0:0.0	.	20	O15083	ERC2_HUMAN	H	20	ENSP00000288221:R20H	ENSP00000288221:R20H	R	-	2	0	ERC2	56444017	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.744000	0.85034	2.713000	0.92767	0.655000	0.94253	CGT		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56468977	C	T	56468977	3	4	163	1	0	0	0	0	1	0	0	0	5211	536	19	1	2868	1	ERC2	3	56468977	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	36894082	56468977	141553453	6	11533											
SLC33A1	9197	broad.mit.edu	37	chr3	155547581	155547581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtagaaggccagtttcCtcccagattggacacggtat	10	11	10	10	1	0	2	0	0	0	2	2	3	2	3	3	3	1	3	3	3	4	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:155547581C>T	ENST00000392845.3	-	5	1758	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SLC33A1_ENST00000359479.3_Missense_Mutation_p.G460R			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	460					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAGTTTCCTCCCAGATTG	0.428																																						uc003fan.4																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(1378-1380)Gga>Aga		Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.							129	110	117					3																	155547581		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155547581C>T	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1378G>A	3.37:g.155547581C>T	ENSP00000376587:p.Gly460Arg					SLC33A1_uc003fao.2_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_Non-coding_Transcript	p.G460R	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	1840	-			460					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.1378G>A	CCDS3173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.542676|5.542676	0.96474|0.96474	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772|ENST00000475842	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Major facilitator superfamily domain, general substrate transporter (1);|.	0.046602|.	0.85682|.	D|.	0.000000|.	D|D	0.86994|0.86994	0.6067|0.6067	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.71184|.	0.972|.	D|D	0.89268|0.89268	0.3602|0.3602	10|5	0.30078|.	T|.	0.28|.	-11.8079|-11.8079	20.0093|20.0093	0.97446|0.97446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	460|.	O00400|.	ACATN_HUMAN|.	R|K	460;460;96|179	ENSP00000376587:G460R;ENSP00000352456:G460R;ENSP00000419165:G96R|.	ENSP00000352456:G460R|.	G|R	-|-	1|2	0|0	SLC33A1|SLC33A1	157030275|157030275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.704000|7.704000	0.84595|0.84595	2.738000|2.738000	0.93877|0.93877	0.585000|0.585000	0.79938|0.79938	GGA|AGG		0.428	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		T	155547581	C	T	155547581	3	4	163	1	0	0	0	0	1	0	0	0	14566	690	24	3	279	3	SLC33A1	3	155547581	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	99078604	155547581	42474849	7	11534											
ABCG2	9429	broad.mit.edu	37	chr4	89061129	89061129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacactgggataaaaacttCgacattactggaagacatct	15	10	8	8	1	1	2	0	1	1	1	2	5	1	4	0	2	2	0	0	2	5	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:89061129C>T	ENST00000237612.3	-	2	564	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	ABCG2_ENST00000515655.1_Missense_Mutation_p.E7K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	7					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATAAAAACTTCGACATTACTG	0.413																																						uc003hrg.3																			0		p.E7D(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(19-21)Gaa>Aaa		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						56	55	55					4																	89061129		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89061129C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.19G>A	4.37:g.89061129C>T	ENSP00000237612:p.Glu7Lys					ABCG2_uc003hrh.3_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	p.E7K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	1	512	-		Hepatocellular(203;0.114)	7					A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.19G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317444	0.23908	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;T;T	0.86097	-2.07;-1.95;-0.26;-0.25	5.41	1.71	0.24356	.	0.657679	0.16410	N	0.215609	T	0.68311	0.2987	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.002	B;B	0.14023	0.01;0.002	T	0.54153	-0.8336	10	0.31617	T	0.26	-0.2165	9.5977	0.39584	0.0819:0.4724:0.4458:0.0	.	7;7	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	K	7;7;45;25	ENSP00000426917:E7K;ENSP00000237612:E7K;ENSP00000426916:E45K;ENSP00000426934:E25K	ENSP00000237612:E7K	E	-	1	0	ABCG2	89280153	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	0.585000	0.23879	0.004000	0.14682	0.650000	0.86243	GAA		0.413	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		T	89061129	C	T	89061129	3	4	163	1	0	0	0	0	1	0	0	0	69	893	31	2	2008	2	ABCG2	4	89061129	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		89061129	102093147	8	11535											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005603	118005603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctctgaagccagagagtaAttaagttccatgttacgtag	13	11	9	8	1	1	2	0	1	1	1	2	3	2	2	3	0	2	4	3	0	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:118005603A>G	ENST00000310754.4	-	1	1133	c.947T>C	c.(946-948)aTt>aCt	p.I316T		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	316	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAGAGAGTAATTAAGTTCCA	0.408																																						uc003ibv.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(946-948)aTt>aCt		Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.							141	138	139					4																	118005603		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005603A>G	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.947T>C	4.37:g.118005603A>G	ENSP00000309402:p.Ile316Thr						p.I316T	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			0	1134	-			316			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.947T>C	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	3.670	-0.067781	0.07228	.	.	ENSG00000174599	ENST00000310754	T	0.55588	0.51	3.59	2.43	0.29744	TRAM/LAG1/CLN8 homology domain (2);	0.351789	0.32328	N	0.006255	T	0.39436	0.1078	L	0.32530	0.975	0.19300	N	0.999978	B	0.18863	0.031	B	0.30782	0.12	T	0.34551	-0.9824	10	0.56958	D	0.05	-1.7762	5.0615	0.14559	0.8603:0.0:0.1397:0.0	.	316	Q8N609	TR1L1_HUMAN	T	316	ENSP00000309402:I316T	ENSP00000309402:I316T	I	-	2	0	TRAM1L1	118225051	0.969000	0.33509	0.003000	0.11579	0.040000	0.13550	3.394000	0.52551	0.749000	0.32854	0.528000	0.53228	ATT		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		G	118005603	A	G	118005603	3	3	163	1	0	0	0	0	1	0	0	0	16449	101	4	4	166	4	TRAM1L1	4	118005603	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	28944474	118005603	73148673	9	11536											
DNAH5	1767	broad.mit.edu	37	chr5	13901576	13901576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcgagccagaggaggatCgtatttctgctttgtataca	9	14	11	7	2	1	1	0	0	1	1	3	4	1	3	1	2	3	4	1	2	3	6	rs141072655		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:13901576C>T	ENST00000265104.4	-	14	1941	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	613	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGAGGATCGTATTTCTGC	0.448									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(1837-1839)Gat>Aat		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.		C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	70	67	68		1837	5.7	0.2	5	dbSNP_134	68	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	613/4625	13901576	2,13004	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901576C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1837G>A	5.37:g.13901576C>T	ENSP00000265104:p.Asp613Asn						p.D613N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			13	1879	-	Lung NSC(4;0.00476)		613			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1837G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445574	0.43429	4.54E-4	0.0	ENSG00000039139	ENST00000265104	T	0.54479	0.57	5.69	5.69	0.88448	Dynein heavy chain, domain-1 (1);	0.049529	0.85682	D	0.000000	T	0.50803	0.1637	L	0.52126	1.63	0.80722	D	1	B	0.15141	0.012	B	0.26864	0.074	T	0.45614	-0.9249	10	0.13108	T	0.6	.	19.7949	0.96477	0.0:1.0:0.0:0.0	.	613	Q8TE73	DYH5_HUMAN	N	613	ENSP00000265104:D613N	ENSP00000265104:D613N	D	-	1	0	DNAH5	13954576	1.000000	0.71417	0.213000	0.23690	0.643000	0.38383	5.934000	0.70138	2.691000	0.91804	0.591000	0.81541	GAT		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13901576	C	T	13901576	3	4	163	1	0	0	0	0	1	0	0	0	4604	884	31	2	12301	2	DNAH5	5	13901576	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		13901576	167013684	10	11537											
PRDM9	56979	broad.mit.edu	37	chr5	23527545	23527545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagggagtgtgggcGgggctttagagataagtcaa	9	10	17	5	1	2	1	1	0	1	1	2	3	2	2	0	4	1	2	0	4	3	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:23527545G>A	ENST00000296682.3	+	11	2530	c.2348G>A	c.(2347-2349)cGg>cAg	p.R783Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	783					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGA	0.577										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2347-2349)cGg>cAg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							86	81	83					5																	23527545		2191	4290	6481	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527545G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2348G>A	5.37:g.23527545G>A	ENSP00000296682:p.Arg783Gln	HNSCC(3;0.000094)					p.R783Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	2530	+			783					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2348G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602343	0.13939	.	.	ENSG00000164256	ENST00000296682	T	0.18960	2.18	3.09	0.242	0.15498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16085	0.0387	L	0.45470	1.425	0.19775	N	0.999958	B	0.30179	0.271	B	0.24155	0.051	T	0.19647	-1.0299	9	0.72032	D	0.01	.	6.0062	0.19547	0.5121:0.0:0.4879:0.0	.	783	Q9NQV7	PRDM9_HUMAN	Q	783	ENSP00000296682:R783Q	ENSP00000296682:R783Q	R	+	2	0	PRDM9	23563302	0.003000	0.15002	0.782000	0.31804	0.006000	0.05464	0.972000	0.29409	0.037000	0.15575	-0.361000	0.07541	CGG		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527545	G	A	23527545	3	1	163	1	0	0	0	0	1	0	0	0	12463	1116	39	2	2386	2	PRDM9	5	23527545	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	9625969	23527545	157387715	11	11538											
EMB	133418	broad.mit.edu	37	chr5	49698154	49698154	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaattctttcccctcatCtgtgtaacaaaagaagaatt	14	13	4	10	0	4	2	2	0	2	2	5	2	5	2	2	0	1	1	2	0	6	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:49698154C>T	ENST00000303221.5	-	7	1093		c.e7-1		EMB_ENST00000506190.1_5'Flank|EMB_ENST00000508934.1_Splice_Site|EMB_ENST00000514111.1_Splice_Site	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin						cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCCCCTCATCTGTGTAACAA	0.318																																						uc003jom.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.e7-1		Homo sapiens embigin (EMB), mRNA.							55	58	57					5																	49698154		2201	4292	6493	SO:0001630	splice_region_variant	133418					integral to membrane		g.chr5:49698154C>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.878-1G>A	5.37:g.49698154C>T						EMB_uc010ivq.3_Splice_Site_p.D87_splice|EMB_uc003jol.3_Splice_Site_p.D224_splice|EMB_uc011cpy.2_Splice_Site_p.D243_splice	p.D293_splice	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN			7	1127	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	293					B7Z6S3|B7Z902	Splice_Site	SNP	ENST00000303221.5	37	c.878_splice	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	C	9.523	1.108789	0.20714	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4595	0.75342	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EMB	49733911	1.000000	0.71417	0.969000	0.41365	0.087000	0.18053	4.463000	0.60128	2.431000	0.82371	0.455000	0.32223	.		0.318	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	Intron	T	49698154	C	T	49698154	5	4	163	1	0	0	0	0	0	0	1	0	5085	927	32	3	118	3	EMB	5	49698154	Splice_Site	SNP	C	TCGA-19-5950-01A-11D-1696-08	26170609	49698154	131217106	12	11539											
OCLN	100506658	broad.mit.edu	37	chr5	68805174	68805174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctgtgtggcctccaCgcttgcctgggacagaggct	4	11	13	13	1	0	1	0	0	0	1	1	2	1	2	4	3	2	2	4	3	0	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:68805174C>T	ENST00000355237.2	+	3	693	c.257C>T	c.(256-258)aCg>aTg	p.T86M	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.T86M|OCLN_ENST00000396442.2_Missense_Mutation_p.T86M	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	86	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGGCCTCCACGCTTGCCTGG	0.507																																						uc003jwu.3																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(256-258)aCg>aTg		Homo sapiens occludin (OCLN), transcript variant 1, mRNA.							193	182	186					5																	68805174		2203	4300	6503	SO:0001583	missense	4950				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805174C>T	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.257C>T	5.37:g.68805174C>T	ENSP00000347379:p.Thr86Met					OCLN_uc003jwv.4_Missense_Mutation_p.T86M|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	p.T86M	NM_002538	NP_001192184	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	2	693	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	86			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.257C>T	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660963	0.88154	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.26810	1.71;1.71;1.71	6.04	6.04	0.98038	Marvel (1);MARVEL-like domain (1);	0.044623	0.85682	D	0.000000	T	0.57888	0.2084	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60120	-0.7325	10	0.87932	D	0	-29.8201	19.3663	0.94464	0.0:1.0:0.0:0.0	.	86	Q16625	OCLN_HUMAN	M	86	ENSP00000347379:T86M;ENSP00000379719:T86M;ENSP00000370143:T86M	ENSP00000347379:T86M	T	+	2	0	OCLN	68840930	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	7.702000	0.84576	2.873000	0.98535	0.563000	0.77884	ACG		0.507	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		T	68805174	C	T	68805174	3	4	163	1	0	0	0	0	1	0	0	0	10820	536	19	1	263	1	OCLN	5	68805174	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	19107020	68805174	112110086	13	11540											
PKHD1	5314	broad.mit.edu	37	chr6	51491843	51491843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcccttgtgattctcggcGtttggatgagatgtggatat	6	14	15	6	2	1	2	0	2	1	1	2	5	1	4	1	4	0	1	1	4	1	4	rs151198392|rs35002037	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:51491843G>A	ENST00000371117.3	-	66	12012	c.11737C>T	c.(11737-11739)Cgc>Tgc	p.R3913C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCTCGGCGTTTGGATGAG	0.433													G|||	2	0.000399361	0.0015	0	5008	,	,		17475	0		0	False		,,,				2504	0					uc003pah.1																			0		p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM052352	PKHD1	M	rs35002037	c.(11737-11739)Cgc>Tgc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	287	275	279		11737	-2.9	0	6	dbSNP_134	279	0,8600		0,0,4300	yes	missense	PKHD1	NM_138694.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	3913/4075	51491843	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491843G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11737C>T	6.37:g.51491843G>A	ENSP00000360158:p.Arg3913Cys						p.R3913C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	12013	-	Lung NSC(77;0.0605)		3913		R -> H (in dbSNP:rs2661487).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11737C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289354	0.23478	4.54E-4	0.0	ENSG00000170927	ENST00000371117	D	0.85773	-2.03	5.0	-2.92	0.05615	.	1.617350	0.03443	N	0.209548	T	0.46405	0.1391	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48186	-0.9057	10	0.52906	T	0.07	.	6.0625	0.19846	0.3856:0.0:0.4907:0.1237	.	3913	P08F94	PKHD1_HUMAN	C	3913	ENSP00000360158:R3913C	ENSP00000360158:R3913C	R	-	1	0	PKHD1	51599802	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.514000	0.06298	-0.356000	0.08187	-0.937000	0.02696	CGC		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51491843	G	A	51491843	3	1	163	1	0	0	0	0	1	0	0	0	11971	1145	40	1	495	1	PKHD1	6	51491843	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08		51491843	119623224	14	11541											
COL12A1	1303	broad.mit.edu	37	chr6	75898089	75898089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactcaccttcttctccaCtaaccaattcaccaagttgt	10	14	2	15	0	5	0	2	0	3	0	6	0	5	0	4	0	2	1	4	0	4	6			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:75898089C>A	ENST00000322507.8	-	8	1295	c.986G>T	c.(985-987)aGt>aTt	p.S329I	COL12A1_ENST00000483888.2_Missense_Mutation_p.S329I|COL12A1_ENST00000416123.2_Missense_Mutation_p.S329I|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	329					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTTCTCCACTAACCAATTC	0.373																																						uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(985-987)aGt>aTt		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							209	192	198					6																	75898089		1950	4145	6095	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898089C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.986G>T	6.37:g.75898089C>A	ENSP00000325146:p.Ser329Ile					COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S329I|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	p.S329I	NM_004370	NP_004361	Q99715	COCA1_HUMAN			6	1021	-			329					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.986G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367825	0.82463	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.87334	-2.23;-2.24;-2.21	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	L	0.56769	1.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.90164	0.4230	10	0.49607	T	0.09	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	329	Q99715	COCA1_HUMAN	I	329	ENSP00000325146:S329I;ENSP00000412864:S329I;ENSP00000421216:S329I	ENSP00000325146:S329I	S	-	2	0	COL12A1	75954809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.871000	0.98454	0.655000	0.94253	AGT		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		A	75898089	C	A	75898089	3	1	163	1	0	0	0	0	1	0	0	0	3669	565	20	5	8441	5	COL12A1	6	75898089	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	24406246	75898089	95216978	15	11542											
DOPEY1	23033	broad.mit.edu	37	chr6	83841949	83841949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacacctcagcatcacCagaagagtgtggaactattt	13	9	10	9	0	2	2	2	0	0	2	2	4	2	4	2	2	2	1	2	2	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:83841949C>T	ENST00000349129.2	+	18	2931	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q882*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q872*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	891					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGCATCACCAGAAGAGTGT	0.373																																						uc011dyy.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2644-2646)Cag>Tag		Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.							150	146	147					6																	83841949		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83841949C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2671C>T	6.37:g.83841949C>T	ENSP00000195654:p.Gln891*					DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q891*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	p.Q882*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	17	2904	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	891					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.2644C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	42	9.728009	0.99249	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	891;872;872	.	ENSP00000237163:Q872X	Q	+	1	0	DOPEY1	83898668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.641000	0.67881	2.746000	0.94184	0.655000	0.94253	CAG		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		T	83841949	C	T	83841949	4	4	163	1	0	0	0	0	0	1	0	0	4707	595	21	3	2733	3	DOPEY1	6	83841949	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	7943860	83841949	87273118	16	11543											
PREP	5550	broad.mit.edu	37	chr6	105771589	105771589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttttacggtcacctctCggaaaactcttggctccagc	7	13	7	14	2	3	0	1	0	2	0	6	1	5	1	3	3	3	1	3	3	3	4	rs141737006		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:105771589C>T	ENST00000369110.3	-	10	1460	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	423					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCACCTCTCGGAAAACTCT	0.408													C|||	1	0.000199681	0	0	5008	,	,		22524	0		0.001	False		,,,				2504	0					uc003prc.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1267-1269)cGa>cAa		Homo sapiens prolyl endopeptidase (PREP), mRNA.	Oxytocin(DB00107)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	169	156	161		1268	5.9	1	6	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREP	NM_002726.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	423/711	105771589	2,13004	2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105771589C>T		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1268G>A	6.37:g.105771589C>T	ENSP00000358106:p.Arg423Gln						p.R423Q	NM_002726	NP_002717	P48147	PPCE_HUMAN			9	1501	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	423					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.1268G>A	CCDS5053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821119|4.821119	0.90873|0.90873	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000085377|ENSG00000085377	ENST00000448705|ENST00000369110;ENST00000535457	.|T	.|0.31769	.|1.48	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30665|0.30665	0.0772|0.0772	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|P	.|0.46026	.|0.501	T|T	0.03630|0.03630	-1.1018|-1.1018	5|10	.|0.42905	.|T	.|0.14	-8.3645|-8.3645	20.3057|20.3057	0.98631|0.98631	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|423	.|P48147	.|PPCE_HUMAN	K|Q	19|423;18	.|ENSP00000358106:R423Q	.|ENSP00000358106:R423Q	E|R	-|-	1|2	0|0	PREP|PREP	105878282|105878282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.459000|7.459000	0.80802|0.80802	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.408	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			T	105771589	C	T	105771589	3	4	163	1	0	0	0	0	1	0	0	0	12474	884	31	2	888	2	PREP	6	105771589	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	21929640	105771589	65343478	17	11544											
DNAH11	55536	broad.mit.edu	37	chr7	21939697	21939697	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagattatggacaccCgccaagggaaggtgcatacc	15	5	12	9	1	0	1	0	0	0	1	0	4	0	4	3	4	2	1	3	4	6	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:21939697C>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Missense_Mutation_p.P4428L|DNAH11_ENST00000409508.3_Missense_Mutation_p.P4421L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TATGGACACCCGCCAAGGGAA	0.488																																						uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13282-13284)cCg>cTg		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							56	57	57					7																	21939697		1889	4108	5997	SO:0001628	intergenic_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21939697C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939697C>T							p.P4428L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			81	13314	+			4428					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13283C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376136	0.82682	.	.	ENSG00000105877	ENST00000328843	T	0.08282	3.11	5.52	5.52	0.82312	Dynein heavy chain (1);	0.049527	0.85682	D	0.000000	T	0.29423	0.0733	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.00945	-1.1505	9	0.72032	D	0.01	.	18.2299	0.89931	0.0:1.0:0.0:0.0	.	4428	Q96DT5	DYH11_HUMAN	L	4428	ENSP00000330671:P4428L	ENSP00000330671:P4428L	P	+	2	0	DNAH11	21906222	0.422000	0.25473	0.898000	0.35279	0.431000	0.31685	4.888000	0.63164	2.581000	0.87130	0.655000	0.94253	CCG		0.488	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		T	21939697	C	T	21939697	1	4	163	0	1	0	0	0	0	0	0	0	4599	652	23	2		2	DNAH11	7	21939697	IGR	SNP	C	TCGA-19-5950-01A-11D-1696-08		21939697	137198966	18	11545											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879506	94879506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaagagactcaaagccagTatcaggccttggaaaagaaa	18	6	9	8	0	3	2	3	0	0	2	3	4	3	3	2	2	1	1	2	2	6	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:94879506T>C	ENST00000433881.1	+	9	2801	c.2269T>C	c.(2269-2271)Tat>Cat	p.Y757H	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Y779H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	757	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAAAGCCAGTATCAGGCCTT	0.373										HNSCC(28;0.073)																												uc003unp.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2269-2271)Tat>Cat		Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.							72	68	69					7																	94879506		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879506T>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2269T>C	7.37:g.94879506T>C	ENSP00000398870:p.Tyr757His	HNSCC(28;0.073)				PPP1R9A_uc010lfj.3_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.2_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.3_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.2_Missense_Mutation_p.Y757H	p.Y757H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	2551	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		757			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2269T>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921058	0.73213	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.18016	2.24;2.27;2.25;2.27;2.28;2.25	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	L	0.56280	1.765	0.53005	D	0.999966	P;P;P;D;P	0.53312	0.609;0.729;0.729;0.959;0.861	B;P;P;P;B	0.50791	0.168;0.544;0.544;0.65;0.275	T	0.00953	-1.1502	10	0.48119	T	0.1	.	15.5801	0.76428	0.0:0.0:0.0:1.0	.	757;757;779;757;757	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	779;757;757;757;757;757	ENSP00000405514:Y779H;ENSP00000344524:Y757H;ENSP00000411342:Y757H;ENSP00000398870:Y757H;ENSP00000289495:Y757H;ENSP00000402893:Y757H	ENSP00000289495:Y757H	Y	+	1	0	PPP1R9A	94717442	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.127000	0.71642	2.326000	0.78906	0.533000	0.62120	TAT		0.373	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		C	94879506	T	C	94879506	3	2	163	1	0	0	0	0	1	0	0	0	12378	1638	57	4	2369	4	PPP1R9A	7	94879506	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	72939809	94879506	64259157	19	11546											
IRF5	3663	broad.mit.edu	37	chr7	128585975	128585975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtggaaggccaacctgcGctgtgcccttaacaagagcc	11	6	11	13	1	0	1	0	0	0	1	0	2	0	2	4	2	5	1	4	2	5	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:128585975G>A	ENST00000402030.2	+	3	344	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IRF5_ENST00000249375.4_Missense_Mutation_p.R91H|IRF5_ENST00000477535.1_Missense_Mutation_p.R91H|IRF5_ENST00000473745.1_Missense_Mutation_p.R91H|IRF5_ENST00000357234.5_Missense_Mutation_p.R91H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	91					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCCAACCTGCGCTGTGCCCTT	0.612																																						uc003voh.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(271-273)cGc>cAc		Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.							89	74	79					7																	128585975		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128585975G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.272G>A	7.37:g.128585975G>A	ENSP00000385352:p.Arg91His					IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003vog.3_Missense_Mutation_p.R91H|IRF5_uc010llt.3_Missense_Mutation_p.R91H|IRF5_uc003voi.3_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.4_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	p.R91H	NM_001098630	NP_116032	Q13568	IRF5_HUMAN			2	393	+			91					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.272G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851515	0.91355	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.14	4.24	0.50183	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.096809	0.46145	D	0.000303	D	0.99155	0.9708	H	0.95114	3.625	0.58432	D	0.999999	D;D;D;D;D;D;B;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.385;1.0	D;D;D;D;D;D;B;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.101;0.996	D	0.98776	1.0730	10	0.87932	D	0	-8.2439	11.9	0.52678	0.088:0.0:0.912:0.0	.	91;91;91;91;91;91;91;91	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	H	91	ENSP00000418037:R91H;ENSP00000349770:R91H;ENSP00000419950:R91H;ENSP00000417770:R91H;ENSP00000419056:R91H;ENSP00000385352:R91H;ENSP00000249375:R91H;ENSP00000419149:R91H	ENSP00000249375:R91H	R	+	2	0	IRF5	128373211	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.420000	0.97426	2.396000	0.81511	0.555000	0.69702	CGC		0.612	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		A	128585975	G	A	128585975	3	1	163	1	0	0	0	0	1	0	0	0	7833	1087	38	1	278	1	IRF5	7	128585975	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	33706469	128585975	30552688	20	11547											
OR2A12	346525	broad.mit.edu	37	chr7	143792799	143792799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccaggtggtcctatttgCgggttctgcgttcatcttag	6	14	11	10	2	3	0	1	0	2	0	4	0	4	0	2	3	3	2	2	3	3	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:143792799C>T	ENST00000408949.2	+	1	659	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A200V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTCCTATTTGCGGGTTCTGCG	0.532																																						uc011kty.2																			1	Substitution - Missense(1)	p.A200V(2)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(598-600)gCg>gTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							200	194	196					7																	143792799		2016	4181	6197	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792799C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.599C>T	7.37:g.143792799C>T	ENSP00000386174:p.Ala200Val						p.A200V	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	599	+	Melanoma(164;0.0783)		200					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.599C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.786891	0.00628	.	.	ENSG00000221858	ENST00000408949	T	0.00031	8.89	4.23	-3.66	0.04489	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.21508	0.67	0.09310	N	1	B	0.15930	0.015	B	0.23150	0.044	T	0.22312	-1.0220	9	0.02654	T	1	-0.9631	7.0043	0.24828	0.1369:0.1976:0.0:0.6655	.	200	Q8NGT7	O2A12_HUMAN	V	200	ENSP00000386174:A200V	ENSP00000386174:A200V	A	+	2	0	OR2A12	143423732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.159000	0.03150	-0.716000	0.04962	0.505000	0.49811	GCG		0.532	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			T	143792799	C	T	143792799	3	4	163	1	0	0	0	0	1	0	0	0	10975	768	27	1	601	1	OR2A12	7	143792799	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	15206824	143792799	15345864	21	11548											
CSMD1	64478	broad.mit.edu	37	chr8	3057257	3057257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatacacgaagtggaagcCgcgggcagaggcaccgctct	10	6	14	11	4	1	2	0	1	1	1	1	4	1	3	2	3	2	3	2	3	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:3057257C>T	ENST00000520002.1	-	34	5731	c.5176G>A	c.(5176-5178)Ggc>Agc	p.G1726S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1726S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1726S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1725S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1726S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1725S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1725S|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1726	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGAAGCCGCGGGCAGAG	0.512																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(5173-5175)Ggc>Agc		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							31	33	33					8																	3057257		1961	4185	6146	SO:0001583	missense	64478					integral to membrane		g.chr8:3057257C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5176G>A	8.37:g.3057257C>T	ENSP00000430733:p.Gly1726Ser					CSMD1_uc011kwj.2_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.3_Missense_Mutation_p.G882S	p.G1725S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	32	5563	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1726			CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5173G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.596947|4.596947	0.87055|0.87055	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|T	0.33438|0.18810	1.41;1.41;1.41;1.41;1.41|2.19	5.46|5.46	5.46|5.46	0.80206|0.80206	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62853|0.62853	0.2462|0.2462	H|H	0.97491|0.97491	4.015|4.015	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.71027|0.71027	-0.4711|-0.4711	10|7	0.87932|0.23891	D|T	0|0.37	.|.	19.6793|19.6793	0.95956|0.95956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1726;1726;1726|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|Q	1726;1726;1588;1725;1725;1725|1205	ENSP00000383047:G1726S;ENSP00000430733:G1726S;ENSP00000441462:G1725S;ENSP00000446243:G1725S;ENSP00000441675:G1725S|ENSP00000334828:R1205Q	ENSP00000320445:G1588S|ENSP00000334828:R1205Q	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3044664|3044664	1.000000|1.000000	0.71417|0.71417	0.261000|0.261000	0.24466|0.24466	0.296000|0.296000	0.27459|0.27459	7.593000|7.593000	0.82686|0.82686	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3057257	C	T	3057257	3	4	163	1	0	0	0	0	1	0	0	0	3944	652	23	2	5673	2	CSMD1	8	3057257	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		3057257	143306765	22	11549											
MSR1	4481	broad.mit.edu	37	chr8	15978016	15978016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacgcgcacttcccagCgatcgtcacaaattgtaccc	10	8	7	16	4	1	0	1	0	0	0	4	1	3	0	3	0	3	2	3	0	3	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:15978016C>T	ENST00000262101.5	-	9	1254	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.R396H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	378	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CACTTCCCAGCGATCGTCACA	0.562																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1186-1188)cGc>cAc		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.							120	116	117					8																	15978016		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15978016C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1133G>A	8.37:g.15978016C>T	ENSP00000262101:p.Arg378His					MSR1_uc003wwz.3_Missense_Mutation_p.R378H|MSR1_uc003wxa.3_Intron	p.R396H	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	8	1251	-			378			SRCR.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1187G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566668	0.28003	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	T;T	0.28255	1.62;1.62	4.84	-2.37	0.06643	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.919485	0.08996	N	0.863671	T	0.11067	0.0270	N	0.02697	-0.525	0.34928	D	0.749103	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.37478	-0.9704	10	0.19147	T	0.46	.	7.7119	0.28682	0.0:0.1623:0.1251:0.7126	.	396;378	B4DDJ5;P21757	.;MSRE_HUMAN	H	378;396	ENSP00000262101:R378H;ENSP00000405453:R396H	ENSP00000262101:R378H	R	-	2	0	MSR1	16022387	0.000000	0.05858	0.929000	0.37066	0.478000	0.33099	-2.568000	0.00915	-0.512000	0.06505	0.655000	0.94253	CGC		0.562	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			T	15978016	C	T	15978016	3	4	163	1	0	0	0	0	1	0	0	0	9886	768	27	1	230	1	MSR1	8	15978016	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	12920759	15978016	130386006	23	11550											
CDCA2	157313	broad.mit.edu	37	chr8	25341581	25341581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaagtgtttgatgaatCtttgccagcaaatactccat	11	12	8	10	1	1	2	0	2	1	0	2	3	2	3	3	1	3	2	3	1	4	3	rs199672795		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:25341581C>A	ENST00000330560.3	+	10	1697	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S392Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	407					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTGATGAATCTTTGCCAGCA	0.428																																						uc003xep.1																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1219-1221)tCt>tAt		Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.							90	88	89					8																	25341581		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25341581C>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1220C>A	8.37:g.25341581C>A	ENSP00000328228:p.Ser407Tyr					DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	p.S407Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	9	1697	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	407					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1220C>A	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398300	0.83120	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.36520	1.25;1.25	6.01	6.01	0.97437	.	0.146689	0.46758	D	0.000277	T	0.60327	0.2260	M	0.70595	2.14	0.43846	D	0.996435	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.993;0.993	T	0.58962	-0.7543	10	0.54805	T	0.06	-22.5729	16.0212	0.80493	0.0:1.0:0.0:0.0	.	407;392;407	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	Y	407;392	ENSP00000328228:S407Y;ENSP00000370040:S392Y	ENSP00000328228:S407Y	S	+	2	0	CDCA2	25397498	0.981000	0.34729	1.000000	0.80357	0.992000	0.81027	2.656000	0.46716	2.861000	0.98227	0.650000	0.86243	TCT		0.428	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		A	25341581	C	A	25341581	3	1	163	1	0	0	0	0	1	0	0	0	3086	913	32	5	1254	5	CDCA2	8	25341581	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	9363565	25341581	121022441	24	11551											
PKHD1L1	93035	broad.mit.edu	37	chr8	110424605	110424605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttaaaccaaacagaCgaccatatggagatatttta	17	10	7	7	1	0	3	0	0	0	3	0	5	0	3	2	1	2	1	2	1	6	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:110424605C>T	ENST00000378402.5	+	20	2301	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	733					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCAAACAGACGACCATATGG	0.368										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(2197-2199)Cga>Tga		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							104	93	96					8																	110424605		1831	4079	5910	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110424605C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2197C>T	8.37:g.110424605C>T	ENSP00000367655:p.Arg733*	HNSCC(38;0.096)					p.R733*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		19	2301	+			733					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.2197C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	37	6.169717	0.97343	.	.	ENSG00000205038	ENST00000378402	.	.	.	4.9	-2.24	0.06909	.	3.050000	0.01041	N	0.004300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	3.8929	0.09127	0.3883:0.3588:0.0:0.2528	.	.	.	.	X	733	.	ENSP00000367655:R733X	R	+	1	2	PKHD1L1	110493781	0.397000	0.25270	0.220000	0.23810	0.741000	0.42261	-0.165000	0.09968	-0.308000	0.08792	-0.440000	0.05779	CGA		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110424605	C	T	110424605	4	4	163	1	0	0	0	0	0	1	0	0	11972	528	19	1	2275	1	PKHD1L1	8	110424605	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	85083024	110424605	35939417	25	11552											
DGAT1	8694	broad.mit.edu	37	chr8	145541816	145541818	+	In_Frame_Del	DEL	CTT	CTT	-																															ggggcagcagcactgctggcCttcttccctgcagaggctac																										TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:145541816_145541818delCTT	ENST00000332324.4	-	8	964_966	c.691_693delAAG	c.(691-693)aagdel	p.K231del	DGAT1_ENST00000527438.1_5'Flank|DGAT1_ENST00000531896.1_In_Frame_Del_p.E261del	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	231					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACTGCTGGCCTTCTTCCCTGCA	0.709																																						uc003zbv.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(691-693)aagdel		Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.																																				SO:0001651	inframe_deletion	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541816_145541818delCTT	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.691_693delAAG	8.37:g.145541819_145541821delCTT	ENSP00000332258:p.Lys231del						p.K231del	NM_012079	NP_036211	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	959_961	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		231					B2RWQ2|D3DWL6|Q96BB8	In_Frame_Del	DEL	ENST00000332324.4	37	c.691_693delAAG	CCDS6420.1																																																																																				0.709	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		-	145541818	CTT	-	145541816	7	5	163	1	0	1	0	1	0	0	0	0	4457	680	24	0	813	0	DGAT1	8	145541816	In_Frame_Del	DEL	CTT	TCGA-19-5950-01A-11D-1696-08	35117211	145541816	822206	26	11553											
ZNF250	58500	broad.mit.edu	37	chr8	146108024	146108024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactgcctggtgcggagTgagtggcatgctttggctta	6	11	16	8	1	0	1	0	1	0	0	0	2	0	2	1	5	3	4	1	5	1	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:146108024T>C	ENST00000292579.7	-	6	675	c.559A>G	c.(559-561)Act>Gct	p.T187A	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.T182A	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGTGCGGAGTGAGTGGCATG	0.498																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.4																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(559-561)Act>Gct		Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.							158	142	147					8																	146108024		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108024T>C	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.559A>G	8.37:g.146108024T>C	ENSP00000292579:p.Thr187Ala					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.T182A|ZNF250_uc010mgg.3_Missense_Mutation_p.T182A	p.T187A	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	5	676	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		187					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.559A>G	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	T	8.364	0.833731	0.16820	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.15256	2.44;2.44	3.48	-3.1	0.05315	.	1.106500	0.06962	N	0.816611	T	0.08846	0.0219	L	0.28504	0.86	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39461	-0.9613	10	0.15952	T	0.53	-1.0016	1.2095	0.01902	0.2603:0.3717:0.1321:0.2359	.	182;187	D3DWP1;P15622	.;ZN250_HUMAN	A	187;182;182	ENSP00000292579:T187A;ENSP00000393442:T182A	ENSP00000292579:T187A	T	-	1	0	ZNF250	146078828	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-3.135000	0.00588	-0.639000	0.05502	0.260000	0.18958	ACT		0.498	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		C	146108024	T	C	146108024	3	2	163	1	0	0	0	0	1	0	0	0	17792	1696	59	4	1127	4	ZNF250	8	146108024	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	566208	146108024	255998	27	11554											
MOBKL2B	79817	broad.mit.edu	37	chr9	27455216	27455216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtactggggagctggcagCgctgttggcttcttatactt	6	14	13	8	1	1	0	0	0	1	0	1	1	1	1	0	4	4	6	0	4	3	6			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:27455216C>T	ENST00000262244.5	-	2	757	c.333G>A	c.(331-333)gcG>gcA	p.A111A		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	111							metal ion binding (GO:0046872)										GAGCTGGCAGCGCTGTTGGCT	0.488																																						uc003zqn.3																			0											c.(331-333)gcG>gcA		Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.							104	95	98					9																	27455216		2203	4300	6503	SO:0001819	synonymous_variant	79817						metal ion binding|protein binding	g.chr9:27455216C>T	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"MOB kinase activators"	23825	protein-coding gene	gene with protein product	"monopolar spindle 1 binding, MOB1, domain containing"		"MOB1, Mps One Binder kinase activator-like 2B (yeast)", "chromosome 9 open reading frame 35"	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.333G>A	9.37:g.27455216C>T							p.A111A	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN			1	829	-			111					Q8NEB4|Q9H8V4	Silent	SNP	ENST00000262244.5	37	c.333G>A	CCDS6520.1																																																																																				0.488	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		T	27455216	C	T	27455216	2	4	163	1	0	0	0	0	0	0	0	1	9685	755	27	1		1	MOBKL2B	9	27455216	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		27455216	113758215	28	11555											
FBP2	8789	broad.mit.edu	37	chr9	97329591	97329591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatattcagtggtggcCgcatcaaaatacttggcata	12	11	9	9	1	2	0	2	0	0	0	2	0	2	0	1	3	2	3	1	3	5	5	rs367608023		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:97329591C>T	ENST00000375337.3	-	5	732	c.666G>A	c.(664-666)gcG>gcA	p.A222A	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	222					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAGTGGTGGCCGCATCAAAAT	0.463																																						uc004auv.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(664-666)gcG>gcA		Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.		T		1,4405	2.1+/-5.4	0,1,2202	164	165	165		666	-6.3	0.8	9		165	0,8600		0,0,4300	no	coding-synonymous	FBP2	NM_003837.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		222/340	97329591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97329591C>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.666G>A	9.37:g.97329591C>T						BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	p.A222A	NM_003837	NP_003828	O00757	F16P2_HUMAN			4	733	-		Acute lymphoblastic leukemia(62;0.136)	222					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.666G>A	CCDS6711.1																																																																																				0.463	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		T	97329591	C	T	97329591	2	4	163	1	0	0	0	0	0	0	0	1	5706	639	23	2		2	FBP2	9	97329591	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	69874375	97329591	43883840	29	11556											
ITIH2	3698	broad.mit.edu	37	chr10	7763617	7763617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgttctttctaggcgcaCgtctccttcaagcccacggt	6	11	8	16	4	4	0	1	0	3	0	5	0	4	0	3	2	1	2	3	2	2	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:7763617C>T	ENST00000358415.4	+	8	910	c.744C>T	c.(742-744)caC>caT	p.H248H	ITIH2_ENST00000379587.4_Silent_p.H237H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	248					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTAGGCGCACGTCTCCTTCA	0.587																																						uc001ijs.3																			0		p.H248L(1)|p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(742-744)caC>caT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.							134	121	125					10																	7763617		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763617C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.744C>T	10.37:g.7763617C>T							p.H248H	NM_002216	NP_002207	P19823	ITIH2_HUMAN			7	906	+			248					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.744C>T	CCDS31141.1																																																																																				0.587	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7763617	C	T	7763617	2	4	163	1	0	0	0	0	0	0	0	1	7904	535	19	1		1	ITIH2	10	7763617	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		7763617	127771130	30	11557											
EXOC6	54536	broad.mit.edu	37	chr10	94653171	94653171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttagatgcttgtatccGtaatcatgacaaggaaattg	15	12	9	5	1	1	2	1	1	0	1	2	3	2	3	1	1	1	4	1	1	6	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:94653171G>A	ENST00000260762.6	+	2	181	c.167G>A	c.(166-168)cGt>cAt	p.R56H	EXOC6_ENST00000371552.4_Missense_Mutation_p.R51H|EXOC6_ENST00000371547.4_Missense_Mutation_p.R72H|EXOC6_ENST00000371543.1_Missense_Mutation_p.R56H|EXOC6_ENST00000443748.2_Missense_Mutation_p.R56H	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	56					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GCTTGTATCCGTAATCATGAC	0.333																																						uc010qnr.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(214-216)cGt>cAt		Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.							103	105	104					10																	94653171		2203	4297	6500	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94653171G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.167G>A	10.37:g.94653171G>A	ENSP00000260762:p.Arg56His					EXOC6_uc001kie.3_Missense_Mutation_p.R51H|EXOC6_uc001kif.4_Missense_Mutation_p.R56H|EXOC6_uc001kig.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.3_Missense_Mutation_p.R56H|EXOC6_uc009xuc.3_Missense_Mutation_p.R56H	p.R72H	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN			2	358	+		Colorectal(252;0.123)	56					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.215G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953411	0.73902	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000371543;ENST00000443748;ENST00000260762	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.52011	1.625	0.31188	N	0.701319	D;D;B;P;P	0.89917	0.998;1.0;0.347;0.603;0.603	P;D;B;B;B	0.64410	0.815;0.925;0.097;0.111;0.066	T	0.46884	-0.9159	10	0.46703	T	0.11	-11.6453	20.6397	0.99537	0.0:0.0:1.0:0.0	.	72;56;48;56;51	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	H	72;51;56;56;56	ENSP00000360602:R72H;ENSP00000360607:R51H;ENSP00000360598:R56H;ENSP00000396206:R56H;ENSP00000260762:R56H	ENSP00000260762:R56H	R	+	2	0	EXOC6	94643151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.948000	0.87774	2.880000	0.98712	0.650000	0.86243	CGT		0.333	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		A	94653171	G	A	94653171	3	1	163	1	0	0	0	0	1	0	0	0	5308	1145	40	1	263	1	EXOC6	10	94653171	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	86889554	94653171	40881576	31	11558											
SORBS1	10580	broad.mit.edu	37	chr10	97194458	97194458	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaaatagagcgtgcgcgTaaagggtcggcagttgctga	11	7	16	7	4	0	3	0	1	0	2	1	3	0	3	0	2	3	5	0	2	4	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:97194458T>A	ENST00000361941.3	-	3	119	c.93A>T	c.(91-93)ttA>ttT	p.L31F	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.L31F|SORBS1_ENST00000371246.2_Missense_Mutation_p.L31F|SORBS1_ENST00000353505.5_Missense_Mutation_p.L31F|SORBS1_ENST00000306402.6_Missense_Mutation_p.L31F|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.L31F|SORBS1_ENST00000393949.1_Missense_Mutation_p.L31F|SORBS1_ENST00000354106.3_Missense_Mutation_p.L31F|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.L31F|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.L31F|SORBS1_ENST00000277982.5_Missense_Mutation_p.L31F	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGCGTGCGCGTAAAGGGTCGG	0.483																																						uc001kkp.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(91-93)ttA>ttT		Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.							87	86	86					10																	97194458		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97194458T>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.93A>T	10.37:g.97194458T>A	ENSP00000355136:p.Leu31Phe					SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Missense_Mutation_p.L19F|SORBS1_uc001kko.3_Missense_Mutation_p.L31F|SORBS1_uc001kkq.3_Missense_Mutation_p.L31F|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Missense_Mutation_p.L31F|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.L31F|SORBS1_uc010qoe.2_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	p.L31F	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	2	138	-		Colorectal(252;0.0429)	31						Missense_Mutation	SNP	ENST00000361941.3	37	c.93A>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116652	0.37339	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T;T	0.21543	2.55;2.1;2.43;2.2;2.72;2.2;2.55;2.0;2.43;2.72;2.2	5.82	-5.2	0.02823	.	0.624550	0.12019	N	0.507188	T	0.20495	0.0493	N	0.24115	0.695	0.09310	N	0.999999	P;B;B;P;P;B	0.44946	0.846;0.005;0.0;0.761;0.846;0.001	P;B;B;P;P;B	0.54460	0.753;0.004;0.002;0.571;0.683;0.003	T	0.26573	-1.0099	10	0.87932	D	0	0.8998	9.828	0.40923	0.0:0.122:0.5422:0.3359	.	31;31;31;31;31;31	Q9BX66-11;Q9BX66-9;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;SRBS1_HUMAN;.;.	F	31	ENSP00000360291:L31F;ENSP00000302556:L31F;ENSP00000360293:L31F;ENSP00000360271:L31F;ENSP00000360292:L31F;ENSP00000377521:L31F;ENSP00000343998:L31F;ENSP00000277985:L31F;ENSP00000355136:L31F;ENSP00000277982:L31F;ENSP00000277984:L31F	ENSP00000277982:L31F	L	-	3	2	SORBS1	97184448	0.999000	0.42202	0.763000	0.31416	0.579000	0.36224	0.336000	0.19823	-1.266000	0.02446	-0.250000	0.11733	TTA		0.483	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			A	97194458	T	A	97194458	3	1	163	1	0	0	0	0	1	0	0	0	14927	1635	57	5	4098	5	SORBS1	10	97194458	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	2541287	97194458	38340289	32	11559											
NLRP14	338323	broad.mit.edu	37	chr11	7065151	7065151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgtttgcggaccatcAggctgtctgtaactgtggta	6	12	14	9	2	2	0	1	0	1	0	2	1	2	1	2	4	2	4	2	4	2	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:7065151A>G	ENST00000299481.4	+	4	2240	c.1894A>G	c.(1894-1896)Agg>Ggg	p.R632G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	632					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCGGACCATCAGGCTGTCTGT	0.423																																						uc001mfb.1																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1894-1896)Agg>Ggg		Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.							91	95	94					11																	7065151		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7065151A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1894A>G	11.37:g.7065151A>G	ENSP00000299481:p.Arg632Gly						p.R632G	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	2217	+			632					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1894A>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.514513	0.27123	.	.	ENSG00000158077	ENST00000299481	D	0.89552	-2.53	4.2	3.08	0.35506	.	0.353219	0.24647	N	0.036756	D	0.84365	0.5456	M	0.71871	2.18	0.09310	N	1	B	0.30482	0.281	B	0.21917	0.037	T	0.74551	-0.3628	10	0.39692	T	0.17	.	6.3564	0.21404	0.8898:0.0:0.1102:0.0	.	632	Q86W24	NAL14_HUMAN	G	632	ENSP00000299481:R632G	ENSP00000299481:R632G	R	+	1	2	NLRP14	7021727	0.002000	0.14202	0.006000	0.13384	0.060000	0.15804	0.926000	0.28804	0.960000	0.38005	0.533000	0.62120	AGG		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		G	7065151	A	G	7065151	3	3	163	1	0	0	0	0	1	0	0	0	10476	179	7	4	1904	4	NLRP14	11	7065151	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08		7065151	127941365	33	11560											
OR5AN1	390195	broad.mit.edu	37	chr11	59132528	59132528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttctttgtacaggtcatGactgctatattaaccatgtt	10	17	6	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	7			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:59132528G>A	ENST00000313940.2	+	1	644	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGTCATGACTGCTATAT	0.408																																						uc010rks.2																			0		p.V198V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(595-597)atG>atA		Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.							188	166	173					11																	59132528		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132528G>A	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.597G>A	11.37:g.59132528G>A	ENSP00000320302:p.Met199Ile						p.M199I	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			0	597	+			199					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.597G>A	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382969	0.01194	.	.	ENSG00000176495	ENST00000313940	T	0.36157	1.27	4.12	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	1.022310	0.07857	N	0.965562	T	0.15262	0.0368	N	0.05199	-0.095	0.09310	N	1	B	0.16802	0.019	B	0.21151	0.033	T	0.23762	-1.0179	10	0.39692	T	0.17	-1.7434	2.3338	0.04242	0.1618:0.1248:0.4586:0.2547	.	199	Q8NGI8	O5AN1_HUMAN	I	199	ENSP00000320302:M199I	ENSP00000320302:M199I	M	+	3	0	OR5AN1	58889104	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.181000	0.09740	-0.115000	0.11915	-0.181000	0.13052	ATG		0.408	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		A	59132528	G	A	59132528	3	1	163	1	0	0	0	0	1	0	0	0	11143	1290	45	3	599	3	OR5AN1	11	59132528	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	52067377	59132528	75873988	34	11561											
ATM	472	broad.mit.edu	37	chr11	108172455	108172455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatagtttctgggagatttAtaagatgacaacagatccaa	16	11	8	6	0	1	4	0	1	1	3	2	5	2	4	1	1	1	1	1	1	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:108172455A>G	ENST00000452508.2	+	36	5447	c.5258A>G	c.(5257-5259)tAt>tGt	p.Y1753C	ATM_ENST00000278616.4_Missense_Mutation_p.Y1753C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1753					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGGAGATTTATAAGATGACA	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5257-5259)tAt>tGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							127	131	129					11																	108172455		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108172455A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5258A>G	11.37:g.108172455A>G	ENSP00000388058:p.Tyr1753Cys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.2_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	p.Y1753C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	34	5643	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1753					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5258A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317176	0.40996	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.68025	-0.3;-0.3	4.9	4.9	0.64082	Armadillo-type fold (1);	0.226361	0.46442	D	0.000285	T	0.55657	0.1934	L	0.41236	1.265	0.36072	D	0.842197	B	0.14438	0.01	B	0.17979	0.02	T	0.60393	-0.7272	10	0.42905	T	0.14	.	9.3855	0.38340	0.9193:0.0:0.0807:0.0	.	1753	Q13315	ATM_HUMAN	C	1753	ENSP00000278616:Y1753C;ENSP00000388058:Y1753C	ENSP00000278616:Y1753C	Y	+	2	0	ATM	107677665	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.238000	0.65366	1.975000	0.57531	0.377000	0.23210	TAT		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108172455	A	G	108172455	3	3	163	1	0	0	0	0	1	0	0	0	1109	449	16	4	5392	4	ATM	11	108172455	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	49039927	108172455	26834061	35	11562											
BUD13	84811	broad.mit.edu	37	chr11	116633616	116633616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaggaaccatgacgggctCgcctaggaggagagggatct	10	6	16	9	2	1	3	0	2	1	1	2	7	1	6	2	5	1	1	2	5	2	1	rs139478949		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:116633616C>T	ENST00000260210.4	-	4	712	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	230	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.R230Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGACGGGCTCGCCTAGGAGG	0.532																																						uc001ppn.3																			1	Substitution - Missense(1)	p.R230Q(2)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(688-690)cGa>cAa		Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.		C	,GLN/ARG	0,4402		0,0,2201	123	126	125		,689	2.2	0	11	dbSNP_134	125	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense	BUD13	NM_001159736.1,NM_032725.3	,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,230/620	116633616	1,12993	2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633616C>T	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.689G>A	11.37:g.116633616C>T	ENSP00000260210:p.Arg230Gln					BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.R230Q	p.R230Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	3	723	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	230			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.689G>A	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704552	0.30232	0.0	1.16E-4	ENSG00000137656	ENST00000260210	T	0.27557	1.66	5.08	2.18	0.27775	.	0.271172	0.41194	D	0.000924	T	0.26738	0.0654	M	0.74258	2.255	0.31247	N	0.694493	P;P	0.50369	0.934;0.934	B;B	0.34038	0.174;0.174	T	0.43442	-0.9391	9	.	.	.	-9.9463	10.4446	0.44486	0.0:0.7867:0.0:0.2133	.	230;230	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	Q	230	ENSP00000260210:R230Q	.	R	-	2	0	BUD13	116138826	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	0.776000	0.26704	0.739000	0.32628	0.655000	0.94253	CGA		0.532	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		T	116633616	C	T	116633616	3	4	163	1	0	0	0	0	1	0	0	0	1573	884	31	2	1198	2	BUD13	11	116633616	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	8461161	116633616	18372900	36	11563											
TIMELESS	8914	broad.mit.edu	37	chr12	56822356	56822356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgcggctgctctccCtcacagcctcatctggagat	7	11	10	13	1	4	3	2	2	2	1	5	4	4	3	2	2	3	2	2	2	0	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:56822356C>T	ENST00000553532.1	-	12	1535	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R461K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGCTCTCCCTCACAGCCTC	0.557																																						uc001slf.2																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1384-1386)aGg>aAg		Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.							69	57	61					12																	56822356		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822356C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1385G>A	12.37:g.56822356C>T	ENSP00000450607:p.Arg462Lys					TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	p.R462K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			11	1553	-			462						Missense_Mutation	SNP	ENST00000553532.1	37	c.1385G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815041	0.70912	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07567	3.18;3.18	5.13	4.24	0.50183	.	0.055015	0.64402	N	0.000002	T	0.07052	0.0179	L	0.31752	0.955	0.80722	D	1	P;P	0.42375	0.778;0.671	B;B	0.38712	0.28;0.145	T	0.43718	-0.9374	10	0.27082	T	0.32	-12.7506	12.8404	0.57800	0.0:0.9191:0.0:0.0809	.	461;462	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	K	461;462	ENSP00000229201:R461K;ENSP00000450607:R462K	ENSP00000229201:R462K	R	-	2	0	TIMELESS	55108623	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.761000	0.62243	1.315000	0.45114	0.462000	0.41574	AGG		0.557	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		T	56822356	C	T	56822356	3	4	163	1	0	0	0	0	1	0	0	0	15901	681	24	3	2313	3	TIMELESS	12	56822356	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		56822356	77029539	37	11564											
KCNC2	3747	broad.mit.edu	37	chr12	75601221	75601221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgccaggtcctcgtcGtcgccggggtcgccgccaat	3	8	14	16	7	0	0	0	0	0	0	5	0	1	0	6	4	0	0	6	4	1	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:75601221G>A	ENST00000549446.1	-	2	1223	c.543C>T	c.(541-543)gaC>gaT	p.D181D	KCNC2_ENST00000393288.2_Silent_p.D181D|KCNC2_ENST00000298972.1_Silent_p.D181D|KCNC2_ENST00000548513.1_Silent_p.D181D|KCNC2_ENST00000540018.1_Silent_p.D181D|KCNC2_ENST00000350228.2_Silent_p.D181D|KCNC2_ENST00000550433.1_Silent_p.D181D|KCNC2_ENST00000341669.3_Silent_p.D181D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	181					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGTCCTCGTCGTCGCCGGGGT	0.726																																						uc001sxg.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(541-543)gaC>gaT		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.							14	16	15					12																	75601221		2198	4295	6493	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601221G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.543C>T	12.37:g.75601221G>A						KCNC2_uc009zry.3_Silent_p.D181D|KCNC2_uc001sxe.3_Silent_p.D181D|KCNC2_uc001sxf.3_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	p.D181D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			1	1087	-			181					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.543C>T	CCDS9007.1																																																																																				0.726	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75601221	G	A	75601221	2	1	163	1	0	0	0	0	0	0	0	1	8015	1136	40	1		1	KCNC2	12	75601221	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08	18778865	75601221	58250674	38	11565											
NTN4	59277	broad.mit.edu	37	chr12	96076575	96076575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggaagtcaggaacttcaTgataccagtctatgtctgtg	11	11	11	8	1	4	1	2	1	2	0	4	4	4	3	1	2	2	0	1	2	4	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:96076575T>G	ENST00000343702.4	-	7	1866	c.1418A>C	c.(1417-1419)cAt>cCt	p.H473P	NTN4_ENST00000538383.1_Missense_Mutation_p.H436P|NTN4_ENST00000553059.1_Missense_Mutation_p.H473P|NTN4_ENST00000344911.4_Missense_Mutation_p.H436P	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	473					axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGGAACTTCATGATACCAGTC	0.423																																						uc001tei.3																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1417-1419)cAt>cCt		Homo sapiens netrin 4 (NTN4), mRNA.							133	114	121					12																	96076575		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96076575T>G	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1418A>C	12.37:g.96076575T>G	ENSP00000340998:p.His473Pro					NTN4_uc009ztf.3_Missense_Mutation_p.H473P|NTN4_uc009ztg.3_Missense_Mutation_p.H436P	p.H473P	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			6	1867	-			473					B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1418A>C	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795169	0.31777	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.37058	1.24;1.22;1.22;1.29	4.86	4.86	0.63082	.	0.254426	0.31268	N	0.007942	T	0.30324	0.0761	L	0.41236	1.265	0.31767	N	0.63254	P;P	0.44090	0.826;0.607	B;B	0.43103	0.408;0.177	T	0.34527	-0.9825	10	0.31617	T	0.26	.	9.1809	0.37141	0.0:0.081:0.0:0.919	.	473;473	Q9HB63-2;Q9HB63	.;NET4_HUMAN	P	473;436;436;473	ENSP00000340998:H473P;ENSP00000339436:H436P;ENSP00000444432:H436P;ENSP00000447292:H473P	ENSP00000340998:H473P	H	-	2	0	NTN4	94600706	1.000000	0.71417	0.995000	0.50966	0.533000	0.34776	3.686000	0.54685	2.047000	0.60756	0.379000	0.24179	CAT		0.423	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		G	96076575	T	G	96076575	3	3	163	1	0	0	0	0	1	0	0	0	10702	1464	51	5	484	5	NTN4	12	96076575	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	20475354	96076575	37775320	39	11566											
FOXA1	3169	broad.mit.edu	37	chr14	38061515	38061515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgaacgtcttggcGtcgccgccgccgcccgcgcg	2	7	14	18	10	1	1	0	1	1	0	2	1	1	1	4	1	2	1	4	1	1	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:38061515G>A	ENST00000250448.2	-	2	535	c.474C>T	c.(472-474)gaC>gaT	p.D158D	FOXA1_ENST00000540786.1_Silent_p.D125D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	158					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTCTTGGCGTcgccgccgc	0.697																																						uc001wuf.3																			0		p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(472-474)gaC>gaT		Homo sapiens forkhead box A1 (FOXA1), mRNA.							48	46	46					14																	38061515		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061515G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.474C>T	14.37:g.38061515G>A						FOXA1_uc010tpz.2_Silent_p.D125D	p.D158D	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	786	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		158					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.474C>T	CCDS9665.1																																																																																				0.697	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			A	38061515	G	A	38061515	2	1	163	1	0	0	0	0	0	0	0	1	5989	1136	40	1		1	FOXA1	14	38061515	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08		38061515	69288025	40	11567											
TMEM229B	161145	broad.mit.edu	37	chr14	67940157	67940157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcagtcttgacatggcCgttggccagggctagggcgc	6	9	15	11	2	3	1	2	1	1	0	3	1	3	1	2	4	0	2	2	4	1	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:67940157C>T	ENST00000557006.1	-	4	766	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	TMEM229B_ENST00000357461.2_Missense_Mutation_p.G162S			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	162						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGACATGGCCGTTGGCCAGG	0.632																																						uc001xjk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(484-486)Ggc>Agc		Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.							44	50	48					14																	67940157		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940157C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.484G>A	14.37:g.67940157C>T	ENSP00000451774:p.Gly162Ser					TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.G162S	p.G162S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			2	894	-			162						Missense_Mutation	SNP	ENST00000557006.1	37	c.484G>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575860	0.86645	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.27053	0.805	0.58432	D	0.999999	P	0.41393	0.748	B	0.30401	0.115	T	0.48547	-0.9026	9	0.66056	D	0.02	-22.0479	16.9889	0.86348	0.0:1.0:0.0:0.0	.	162	Q8NBD8	T229B_HUMAN	S	162	.	ENSP00000350050:G162S	G	-	1	0	TMEM229B	67009910	1.000000	0.71417	0.986000	0.45419	0.362000	0.29581	6.233000	0.72320	2.001000	0.58596	0.555000	0.69702	GGC		0.632	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		T	67940157	C	T	67940157	3	4	163	1	0	0	0	0	1	0	0	0	16145	652	23	2	23	2	TMEM229B	14	67940157	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	29878642	67940157	39409383	41	11568											
RPS6KL1	83694	broad.mit.edu	37	chr14	75388196	75388196	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctcgtgagcaaggctCaggctccaggccggggctgg	5	6	17	13	3	1	1	1	1	0	0	3	1	2	1	3	6	2	5	3	6	1	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:75388196C>A	ENST00000555647.1	-	3	336	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RPS6KL1_ENST00000354625.2_Nonsense_Mutation_p.E17*|RPS6KL1_ENST00000358328.4_Nonsense_Mutation_p.E17*|RPS6KL1_ENST00000557413.1_Nonsense_Mutation_p.E17*|RPS6KL1_ENST00000554900.1_Intron			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	17						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGCAAGGCTCAGGCTCCAGG	0.607																																						uc010tux.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(49-51)Gag>Tag		Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.							61	60	60					14																	75388196		2203	4300	6503	SO:0001587	stop_gained	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75388196C>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.49G>T	14.37:g.75388196C>A	ENSP00000452027:p.Glu17*					RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Nonsense_Mutation_p.E17*|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	p.E17*	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	1	577	-			17					A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Nonsense_Mutation	SNP	ENST00000555647.1	37	c.49G>T	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	C	38	7.255153	0.98168	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	.	.	.	3.76	3.76	0.43208	.	0.000000	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.3085	12.9692	0.58503	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000346644:E17X	E	-	1	0	RPS6KL1	74457949	0.986000	0.35501	0.968000	0.41197	0.426000	0.31534	2.772000	0.47678	2.106000	0.64143	0.561000	0.74099	GAG		0.607	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			A	75388196	C	A	75388196	4	1	163	1	0	0	0	0	0	1	0	0	13659	835	29	5	1616	5	RPS6KL1	14	75388196	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	7448039	75388196	31961344	42	11569											
ACAN	176	broad.mit.edu	37	chr15	89386832	89386832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgcatgccaaccagaCgggctaccccgacccctcat	9	6	8	18	3	1	1	1	0	0	1	1	2	1	1	6	1	5	2	6	1	3	2	rs370865297		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:89386832C>T	ENST00000561243.1	+	5	1004	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	ACAN_ENST00000558207.1_Missense_Mutation_p.T335M|ACAN_ENST00000352105.7_Missense_Mutation_p.T335M|ACAN_ENST00000439576.2_Missense_Mutation_p.T335M|ACAN_ENST00000559004.1_Missense_Mutation_p.T335M			P16112	PGCA_HUMAN	aggrecan	335	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCAACCAGACGGGCTACCCC	0.657																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1003-1005)aCg>aTg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.		C	MET/THR,MET/THR	1,4117		0,1,2058	48	53	51		1004,1004	4.6	0.9	15		51	1,8365		0,1,4182	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	81,81	0,2,6240	TT,TC,CC		0.012,0.0243,0.016	probably-damaging,probably-damaging	335/2432,335/2531	89386832	2,12482	2059	4183	6242	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386832C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1004C>T	15.37:g.89386832C>T	ENSP00000453342:p.Thr335Met					ACAN_uc002bmx.3_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_Non-coding_Transcript	p.T335M	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		5	1378	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		335					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1004C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697576	0.68386	2.43E-4	1.2E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03035	4.31;4.07	5.56	4.63	0.57726	.	0.000000	0.33553	N	0.004786	T	0.24392	0.0591	M	0.92026	3.265	0.49051	D	0.999741	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.991;0.994	T	0.18587	-1.0332	10	0.87932	D	0	-11.9767	15.4131	0.74943	0.0:0.8605:0.1395:0.0	.	335;335;335	E7ENV9;E7EX88;Q6PID9	.;.;.	M	335	ENSP00000387356:T335M;ENSP00000341615:T335M	ENSP00000268134:T335M	T	+	2	0	ACAN	87187836	1.000000	0.71417	0.881000	0.34555	0.994000	0.84299	7.469000	0.80959	1.324000	0.45282	0.650000	0.86243	ACG		0.657	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89386832	C	T	89386832	3	4	163	1	0	0	0	0	1	0	0	0	117	536	19	1	1022	1	ACAN	15	89386832	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		89386832	13144560	43	11570											
LRRK1	79705	broad.mit.edu	37	chr15	101567475	101567475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcacagtgagatttcCtgcaagagcctggaaggtca	10	11	11	9	0	2	2	2	1	0	2	3	4	3	3	2	2	3	2	2	2	2	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:101567475C>T	ENST00000388948.3	+	18	2774	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	LRRK1_ENST00000284395.5_Silent_p.S802S	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAGATTTCCTGCAAGAGCC	0.562																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2413-2415)tcC>tcT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							48	53	51					15																	101567475		2009	4187	6196	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567475C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2415C>T	15.37:g.101567475C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.S805S	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		17	2734	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		805			Roc.			Silent	SNP	ENST00000388948.3	37	c.2415C>T	CCDS42086.1																																																																																				0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101567475	C	T	101567475	2	4	163	1	0	0	0	0	0	0	0	1	9032	668	24	3		3	LRRK1	15	101567475	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	12180643	101567475	963917	44	11571											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctgcatgagcgggcCgctggccgcgtgcagcctgc	3	6	17	15	4	0	1	0	1	0	0	0	1	0	1	4	3	5	4	4	3	0	0	rs372115241		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652																																						uc002isv.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1144-1146)cCg>cTg		Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.			LEU/PRO	0,4406		0,0,2203	42	40	41		1145	5.1	0.9	17		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	WFIKKN2	NM_175575.5	98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	382/577	48917794	1,13001	2203	4298	6501	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917794C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1145C>T	17.37:g.48917794C>T	ENSP00000311184:p.Pro382Leu					WFIKKN2_uc010dbu.3_Missense_Mutation_p.P289L	p.P382L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	1839	+			382					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1145C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	WFIKKN2	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG		0.652	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		T	48917794	C	T	48917794	3	4	163	1	0	0	0	0	1	0	0	0	17356	652	23	2	1151	2	WFIKKN2	17	48917794	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		48917794	32277416	45	11572											
ABCA10	10349	broad.mit.edu	37	chr17	67188731	67188731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatccaataccccactttCgcttcagaaacaaagatgat	15	10	5	11	1	1	3	1	1	0	2	3	4	2	3	3	0	2	1	3	0	5	4	rs138792982	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:67188731C>T	ENST00000269081.4	-	17	2753	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCCCACTTTCGCTTCAGAAA	0.328																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1843-1845)cGa>cAa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	137	144	142		1844	-3.4	0	17	dbSNP_134	142	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ABCA10	NM_080282.3	43	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	probably-damaging	615/1544	67188731	10,12996	2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67188731C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1844G>A	17.37:g.67188731C>T	ENSP00000269081:p.Arg615Gln					ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	p.R615Q	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			16	2723	-	Breast(10;6.95e-12)		615			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1844G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878766	0.33162	4.54E-4	9.3E-4	ENSG00000154263	ENST00000269081	T	0.63255	-0.03	3.32	-3.42	0.04825	ABC transporter-like (1);	0.685899	0.10497	N	0.667770	T	0.33644	0.0870	N	0.16130	0.375	0.09310	N	1	P;P	0.43477	0.808;0.62	B;B	0.36666	0.23;0.068	T	0.29671	-1.0004	10	0.22109	T	0.4	.	5.9252	0.19108	0.0:0.4149:0.1297:0.4554	.	615;615	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	Q	615	ENSP00000269081:R615Q	ENSP00000269081:R615Q	R	-	2	0	ABCA10	64700326	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-2.688000	0.00832	-0.847000	0.04168	-0.448000	0.05591	CGA		0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		T	67188731	C	T	67188731	3	4	163	1	0	0	0	0	1	0	0	0	29	884	31	2	2883	2	ABCA10	17	67188731	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	18270937	67188731	14006479	46	11573											
DNAH17	8632	broad.mit.edu	37	chr17	76557880	76557880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttgagctgcccggccacGggaggcatgtttttgtggat	6	12	14	9	2	0	1	0	1	0	0	0	3	0	3	2	4	2	3	2	4	0	3	rs184174651	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:76557880G>A	ENST00000585328.1	-	12	1876	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	DNAH17_ENST00000389840.5_Silent_p.P584P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	584	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577													G|||	2	0.000399361	0	0	5008	,	,		19200	0.002		0	False		,,,				2504	0					uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1750-1752)ccC>ccT		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							41	39	40					17																	76557880		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76557880G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1752C>T	17.37:g.76557880G>A						DNAH17_uc002jvv.2_Silent_p.P286P	p.P584P	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		11	1877	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1752C>T																																																																																					0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76557880	G	A	76557880	2	1	163	1	0	0	0	0	0	0	0	1	4601	1103	39	2		2	DNAH17	17	76557880	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08	9369149	76557880	4637330	47	11574											
ANKRD12	23253	broad.mit.edu	37	chr18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catatctcctggatggaaacCccttaagcaagatttgtatt	12	13	7	9	0	1	1	0	0	1	1	2	3	1	3	3	2	2	2	3	2	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr18:9258903C>T	ENST00000262126.4	+	9	5878	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	ANKRD12_ENST00000383440.2_Missense_Mutation_p.P1857S|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1857S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1880						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1880S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGGAAACCCCTTAAGCAA	0.383																																						uc002knv.3																			1	Substitution - Missense(1)	p.P1880S(2)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5638-5640)Ccc>Tcc		Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.							97	95	96					18																	9258903		2202	4297	6499	SO:0001583	missense	23253					nucleus		g.chr18:9258903C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5638C>T	18.37:g.9258903C>T	ENSP00000262126:p.Pro1880Ser					ANKRD12_uc002knw.3_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	p.P1880S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			8	5902	+			1880					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5638C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889236	0.91889	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67698	-0.28;-0.28	5.44	5.44	0.79542	.	0.116868	0.64402	D	0.000015	T	0.78168	0.4241	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79165	-0.1916	10	0.72032	D	0.01	-8.3714	19.6223	0.95663	0.0:1.0:0.0:0.0	.	1857;1880	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	S	1857;1880	ENSP00000372932:P1857S;ENSP00000262126:P1880S	ENSP00000262126:P1880S	P	+	1	0	ANKRD12	9248903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.707000	0.92482	0.655000	0.94253	CCC		0.383	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		T	9258903	C	T	9258903	3	4	163	1	0	0	0	0	1	0	0	0	640	623	22	3	5668	3	ANKRD12	18	9258903	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		9258903	68818345	48	11575											
ATCAY	85300	broad.mit.edu	37	chr19	3907801	3907801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttggggacggcacgaCggaggacggcagcgccgcca	8	5	16	12	6	1	0	0	0	1	0	1	4	1	3	2	6	1	2	2	6	1	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:3907801C>T	ENST00000450849.2	+	5	895	c.428C>T	c.(427-429)aCg>aTg	p.T143M	ATCAY_ENST00000301260.6_Missense_Mutation_p.T143M|ATCAY_ENST00000600960.1_Missense_Mutation_p.T143M|ATCAY_ENST00000398448.3_Missense_Mutation_p.T149M	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	143					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GACGGCACGACGGAGGACGGC	0.637																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(445-447)aCg>aTg		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.							48	58	55					19																	3907801		2074	4206	6280	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907801C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.428C>T	19.37:g.3907801C>T	ENSP00000390941:p.Thr143Met					ATCAY_uc002lyy.4_Missense_Mutation_p.T143M|ATCAY_uc010dts.3_5'Flank	p.T149M			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	929	+		Hepatocellular(1079;0.137)	143					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.446C>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617893	0.28801	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.36520	1.26;1.26;1.25	5.08	1.67	0.24075	.	0.999489	0.08097	N	0.998440	T	0.37128	0.0992	N	0.17082	0.46	0.09310	N	1	D;P	0.55605	0.972;0.932	P;P	0.62491	0.903;0.623	T	0.30297	-0.9983	10	0.31617	T	0.26	-1.3262	6.8543	0.24032	0.0:0.583:0.2663:0.1507	.	149;143	B4DS11;Q86WG3	.;ATCAY_HUMAN	M	143;143;143;149;121	ENSP00000390941:T143M;ENSP00000301260:T143M;ENSP00000381466:T149M	ENSP00000301260:T143M	T	+	2	0	ATCAY	3858801	0.004000	0.15560	0.000000	0.03702	0.082000	0.17680	0.474000	0.22148	0.166000	0.19597	0.638000	0.83543	ACG		0.637	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			T	3907801	C	T	3907801	3	4	163	1	0	0	0	0	1	0	0	0	1077	536	19	1	442	1	ATCAY	19	3907801	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		3907801	55221182	49	11576											
HOMER3	9454	broad.mit.edu	37	chr19	19043763	19043784	+	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT	-																															acatcttctttagccgctcgCgctctgtggggccgggggca																								rs147820524|rs552061594|rs562250340	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	ENST00000539827.1	-	5	1134_1155	c.482_503delATGCCCCCGGCCCCACAGAGCG	c.(481-504)gatgcccccggccccacagagcgcfs	p.DAPGPTER161fs	HOMER3_ENST00000221222.11_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.DAPGPTER125fs|AC002985.3_ENST00000596918.1_Frame_Shift_Del_p.MPPAPQSA56fs			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	161					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TAGCCGCTCGCGCTCTGTGGGGCCGGGGGCATCAGCGCTCTG	0.671																																						uc002nku.2																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(481-504)gatgcccccggccccacagagcgcfs		Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.482_503delATGCCCCCGGCCCCACAGAGCG	19.37:g.19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	ENSP00000439937:p.Asp161fs					HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs	p.D161fs	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		4	1135_1156	-			161					E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Frame_Shift_Del	DEL	ENST00000539827.1	37	c.482_503delATGCCCCCGGCCCCACAGAGCG	CCDS12391.1																																																																																				0.671	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			-	19043784	CGCTCTGTGGGGCCGGGGGCAT	-	19043763	7	5	163	1	0	1	0	1	0	0	0	0	7280	768	27	0	602	0	HOMER3	19	19043763	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	TCGA-19-5950-01A-11D-1696-08	15135962	19043763	40085220	50	11577											
LSM14A	26065	broad.mit.edu	37	chr19	34710329	34710329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctccaaggagagggcGtgggggtcatcggggtggca	7	7	19	8	2	2	1	2	0	0	1	4	2	3	1	1	7	1	2	1	7	1	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:34710329G>A	ENST00000433627.5	+	7	890	c.815G>A	c.(814-816)cGt>cAt	p.R272H	LSM14A_ENST00000540746.2_Missense_Mutation_p.R231H|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272H	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGGAGAGGGCGTGGGGGTCAT	0.443																																						uc002nvb.4																			0		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(814-816)cGt>cAt		Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.							70	81	77					19																	34710329		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710329G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.815G>A	19.37:g.34710329G>A	ENSP00000413964:p.Arg272His					LSM14A_uc002nva.4_Missense_Mutation_p.R272H|LSM14A_uc010xru.2_Missense_Mutation_p.R231H|LSM14A_uc002nvc.4_Missense_Mutation_p.R78H	p.R272H	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			6	1011	+	Esophageal squamous(110;0.162)		272					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.815G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	g	34	5.398724	0.96030	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.37915	1.21;1.2;1.17	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.953;0.991;0.93	T	0.59700	-0.7405	10	0.31617	T	0.26	-10.3844	20.0371	0.97565	0.0:0.0:1.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	H	272;272;231	ENSP00000446271:R272H;ENSP00000413964:R272H;ENSP00000446451:R231H	ENSP00000314768:R272H	R	+	2	0	LSM14A	39402169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.464000	0.97655	2.734000	0.93682	0.655000	0.94253	CGT		0.443	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		A	34710329	G	A	34710329	3	1	163	1	0	0	0	0	1	0	0	0	9054	1145	40	1	841	1	LSM14A	19	34710329	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	15666566	34710329	24418654	51	11578											
CHGB	1114	broad.mit.edu	37	chr20	5903378	5903378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggagagacacaaaaCgcttttctcaatgaaagaaa	18	6	9	8	1	1	3	1	1	1	2	2	6	1	4	1	1	2	1	1	1	5	2	rs149359798		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:5903378C>T	ENST00000378961.4	+	4	792	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	196						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGACACAAAACGCTTTTCTCA	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		20835	0		0	False		,,,				2504	0					uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(586-588)aaC>aaT		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							87	91	89					20																	5903378		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903378C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.588C>T	20.37:g.5903378C>T						CHGB_uc010zqz.2_5'UTR	p.N196N	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	894	+			196					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.588C>T	CCDS13092.1																																																																																				0.483	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903378	C	T	5903378	2	4	163	1	0	0	0	0	0	0	0	1	3339	535	19	1		1	CHGB	20	5903378	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		5903378	57122142	52	11579											
CD93	22918	broad.mit.edu	37	chr20	23066544	23066544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttctctcgctggagccCaatccagaacttgctcatcc	7	10	7	17	1	2	1	1	0	1	1	6	2	4	2	4	1	3	2	4	1	2	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:23066544C>T	ENST00000246006.4	-	1	433	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGCTGGAGCCCAATCCAGAAC	0.642																																						uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(286-288)Ggg>Agg		Homo sapiens CD93 molecule (CD93), mRNA.							38	30	33					20																	23066544		2202	4298	6500	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066544C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.286G>A	20.37:g.23066544C>T	ENSP00000246006:p.Gly96Arg						p.G96R	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	434	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		96			C-type lectin.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.286G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113133	0.94339	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.30714	1.52	5.58	5.58	0.84498	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000013	T	0.71108	0.3301	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81180	-0.1050	10	0.87932	D	0	-42.1515	18.9352	0.92583	0.0:1.0:0.0:0.0	.	96	Q9NPY3	C1QR1_HUMAN	R	96	ENSP00000246006:G96R	ENSP00000246006:G96R	G	-	1	0	CD93	23014544	0.999000	0.42202	0.882000	0.34594	0.904000	0.53231	4.109000	0.57824	2.774000	0.95407	0.655000	0.94253	GGG		0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		T	23066544	C	T	23066544	3	4	163	1	0	0	0	0	1	0	0	0	3047	594	21	3	1680	3	CD93	20	23066544	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	17163166	23066544	39958976	53	11580											
REM1	28954	broad.mit.edu	37	chr20	30070096	30070096	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctctcctgcaggataaaAgctggagccaggagtcatgc	10	8	11	12	0	2	0	1	0	1	0	4	3	3	3	3	3	4	2	3	3	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:30070096A>T	ENST00000201979.2	+	4	723	c.430A>T	c.(430-432)Agc>Tgc	p.S144C		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	144					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGATAAAAGCTGGAGCCA	0.587																																						uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(430-432)Agc>Tgc		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.							62	60	61					20																	30070096		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070096A>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.430A>T	20.37:g.30070096A>T	ENSP00000201979:p.Ser144Cys						p.S144C	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		3	714	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.430A>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.520299	0.27211	.	.	ENSG00000088320	ENST00000201979	T	0.76709	-1.04	4.75	4.75	0.60458	Small GTP-binding protein domain (1);	0.337248	0.35291	N	0.003313	T	0.79557	0.4466	M	0.84683	2.71	0.35352	D	0.787453	B	0.10296	0.003	B	0.11329	0.006	T	0.82002	-0.0673	10	0.44086	T	0.13	.	13.6198	0.62130	1.0:0.0:0.0:0.0	.	144	O75628	REM1_HUMAN	C	144	ENSP00000201979:S144C	ENSP00000201979:S144C	S	+	1	0	REM1	29533757	0.048000	0.20356	0.967000	0.41034	0.371000	0.29859	1.685000	0.37659	1.975000	0.57531	0.533000	0.62120	AGC		0.587	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		T	30070096	A	T	30070096	3	4	163	1	0	0	0	0	1	0	0	0	13222	72	3	5	440	5	REM1	20	30070096	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	7003552	30070096	32955424	54	11581											
RBL1	5933	broad.mit.edu	37	chr20	35690525	35690525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggttatactccacattagCctgtgctgtcagtttcccta	9	14	7	11	0	1	0	1	0	0	0	3	0	3	0	3	1	3	3	3	1	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:35690525C>A	ENST00000373664.3	-	8	1111	c.1045G>T	c.(1045-1047)Gct>Tct	p.A349S	RBL1_ENST00000344359.3_Missense_Mutation_p.A349S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	349					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCACATTAGCCTGTGCTGTC	0.423																																						uc002xgi.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1045-1047)Gct>Tct		Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.							152	131	138					20																	35690525		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35690525C>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1045G>T	20.37:g.35690525C>A	ENSP00000362768:p.Ala349Ser					RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_Non-coding_Transcript	p.A349S	NM_002895	NP_002886	P28749	RBL1_HUMAN			7	1124	-		Myeloproliferative disorder(115;0.00878)	349					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1045G>T	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.034|7.034	0.561295|0.561295	0.13498|0.13498	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000373664;ENST00000344359|ENST00000525052	D;D|.	0.92545|.	-2.83;-3.06|.	5.04|5.04	3.05|3.05	0.35203|0.35203	.|.	0.675688|.	0.15146|.	N|.	0.277984|.	T|T	0.31575|0.31575	0.0801|0.0801	N|N	0.21373|0.21373	0.66|0.66	0.29094|0.29094	N|N	0.881899|0.881899	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.12156|.	0.007;0.001|.	T|T	0.22382|0.22382	-1.0218|-1.0218	10|5	0.07990|.	T|.	0.79|.	-17.1613|-17.1613	10.2972|10.2972	0.43631|0.43631	0.0:0.7844:0.0:0.2156|0.0:0.7844:0.0:0.2156	.|.	349;349|.	P28749-2;P28749|.	.;RBL1_HUMAN|.	S|S	349|153	ENSP00000362768:A349S;ENSP00000343646:A349S|.	ENSP00000343646:A349S|.	A|R	-|-	1|3	0|2	RBL1|RBL1	35123939|35123939	0.740000|0.740000	0.28207|0.28207	0.862000|0.862000	0.33874|0.33874	0.899000|0.899000	0.52679|0.52679	0.352000|0.352000	0.20113|0.20113	0.664000|0.664000	0.31047|0.31047	0.655000|0.655000	0.94253|0.94253	GCT|AGG		0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		A	35690525	C	A	35690525	3	1	163	1	0	0	0	0	1	0	0	0	13109	739	26	5	2230	5	RBL1	20	35690525	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	5620429	35690525	27334995	55	11582											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253366	32253366	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacttagcaggttcttcGgcagctggacacgcaggact	10	8	11	12	2	1	0	0	0	1	0	2	2	1	2	0	4	2	5	0	4	1	3	rs369918804		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr21:32253366G>A	ENST00000332378.4	-	1	508	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	160						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAGGTTCTTCGGCAGCTGGAC	0.562																																						uc002yov.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(478-480)Cga>Tga		Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.		G	stop/ARG	0,4406		0,0,2203	70	69	69		478	2.5	1	21		69	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KRTAP11-1	NM_175858.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		160/164	32253366	1,13005	2203	4300	6503	SO:0001587	stop_gained	337880					keratin filament	structural molecule activity	g.chr21:32253366G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.478C>T	21.37:g.32253366G>A	ENSP00000330720:p.Arg160*						p.R160*	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			0	509	-			160					A1L4I8	Nonsense_Mutation	SNP	ENST00000332378.4	37	c.478C>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342661	0.82022	0.0	1.16E-4	ENSG00000182591	ENST00000332378	.	.	.	5.4	2.47	0.30058	.	0.160707	0.39544	N	0.001335	.	.	.	.	.	.	0.23144	N	0.998227	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.3305	7.0129	0.24873	0.0789:0.0:0.469:0.4522	.	.	.	.	X	160	.	ENSP00000330720:R160X	R	-	1	2	KRTAP11-1	31175237	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	1.260000	0.32968	0.312000	0.23038	-0.187000	0.12897	CGA		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			A	32253366	G	A	32253366	4	1	163	1	0	0	0	0	0	1	0	0	8517	1124	39	2	17	2	KRTAP11-1	21	32253366	Nonsense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08		32253366	15876529	56	11583											
ARSE	415	broad.mit.edu	37	chrX	2873479	2873479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgcacagggtatctgccCgtgaggaaggcggctctgct	7	8	15	11	3	2	1	0	1	2	0	3	3	2	2	1	4	2	4	1	4	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:2873479C>T	ENST00000381134.3	-	4	351	c.285G>A	c.(283-285)acG>acA	p.T95T	ARSE_ENST00000540563.1_Silent_p.T50T|ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000545496.1_Silent_p.T120T	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	95					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTATCTGCCCGTGAGGAAGG	0.527																																						uc011mhh.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(358-360)acG>acA		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							106	69	82					X																	2873479		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2873479C>T	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.285G>A	X.37:g.2873479C>T						ARSE_uc011mhi.2_Silent_p.T41T|ARSE_uc004crc.4_Silent_p.T95T	p.T120T			P51690	ARSE_HUMAN			4	821	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	95					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.360G>A	CCDS14122.1																																																																																				0.527	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2873479	C	T	2873479	2	4	163	1	0	0	0	0	0	0	0	1	990	639	23	2		2	ARSE	23	2873479	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		2873479	152397081	57	11584											
TLR7	51284	broad.mit.edu	37	chrX	12903821	12903821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctggaggtattcccaCgaacaccacgaacctcaccc	12	7	6	16	2	1	0	1	0	0	0	3	3	3	1	5	2	2	1	5	2	4	3	rs200329031		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:12903821C>T	ENST00000380659.3	+	3	333	c.194C>T	c.(193-195)aCg>aTg	p.T65M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	65					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGTATTCCCACGAACACCACG	0.488																																						uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(193-195)aCg>aTg		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						167	151	157					X																	12903821		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903821C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.194C>T	X.37:g.12903821C>T	ENSP00000370034:p.Thr65Met						p.T65M	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			2	333	+			65					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.194C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051924	0.08291	.	.	ENSG00000196664	ENST00000380659	T	0.46819	0.86	5.61	4.72	0.59763	Leucine-rich repeat-containing N-terminal (1);	0.630019	0.16002	N	0.234265	T	0.43942	0.1270	M	0.67569	2.06	0.34768	D	0.733412	B	0.28512	0.214	B	0.17433	0.018	T	0.54050	-0.8351	10	0.33141	T	0.24	.	11.4355	0.50066	0.1305:0.7299:0.1396:0.0	.	65	Q9NYK1	TLR7_HUMAN	M	65	ENSP00000370034:T65M	ENSP00000370034:T65M	T	+	2	0	TLR7	12813742	0.086000	0.21541	0.128000	0.21923	0.015000	0.08874	0.999000	0.29757	2.359000	0.80004	0.500000	0.49745	ACG		0.488	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		T	12903821	C	T	12903821	3	4	163	1	0	0	0	0	1	0	0	0	15953	536	19	1	200	1	TLR7	23	12903821	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	10030342	12903821	142366739	58	11585											
DMD	1756	broad.mit.edu	37	chrX	32407637	32407637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacacaatgatttagctgtGactgtactacttcctgttcc	9	14	6	12	0	0	2	0	2	0	0	2	2	2	2	3	0	3	3	3	0	4	6			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:32407637G>A	ENST00000357033.4	-	32	4705	c.4499C>T	c.(4498-4500)tCa>tTa	p.S1500L	DMD_ENST00000378677.2_Missense_Mutation_p.S1496L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1500	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTAGCTGTGACTGTACTAC	0.393																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4498-4500)tCa>tTa		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							200	149	166					X																	32407637		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32407637G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4499C>T	X.37:g.32407637G>A	ENSP00000354923:p.Ser1500Leu					DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	p.S1500L	NM_004006	NP_004001	P11532	DMD_HUMAN			31	4743	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1500			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4499C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677921	0.88445	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.17213	2.29;2.29	5.58	5.58	0.84498	.	0.000000	0.29775	U	0.011235	T	0.18635	0.0447	L	0.42245	1.32	0.80722	D	1	P;B;P;P;P	0.46142	0.873;0.314;0.799;0.608;0.608	B;B;B;B;B	0.39660	0.306;0.083;0.162;0.115;0.115	T	0.01249	-1.1406	10	0.39692	T	0.17	.	18.5631	0.91108	0.0:0.0:1.0:0.0	.	1492;1500;1496;159;156	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	1492;159;156;1496;1500;1500;1377	ENSP00000367948:S1496L;ENSP00000354923:S1500L	ENSP00000354923:S1500L	S	-	2	0	DMD	32317558	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.374000	0.97172	2.327000	0.79052	0.594000	0.82650	TCA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	32407637	G	A	32407637	3	1	163	1	0	0	0	0	1	0	0	0	4580	1294	45	3	6898	3	DMD	23	32407637	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	19503816	32407637	122862923	59	11586											
P2RY10	27334	broad.mit.edu	37	chrX	78216970	78216970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgtgaccaactatcccGccatggcagttctgtgaccc	7	11	9	14	2	1	2	0	2	1	0	3	2	2	2	4	1	1	3	4	1	2	3	rs200750596		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:78216970G>A	ENST00000171757.2	+	4	1233	c.953G>A	c.(952-954)cGc>cAc	p.R318H	P2RY10_ENST00000544091.1_Missense_Mutation_p.R318H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAACTATCCCGCCATGGCAGT	0.438													G|||	1	0.000264901	0	0	3775	,	,		13316	0.001		0	False		,,,				2504	0					uc022bzl.1																			0		p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(952-954)cGc>cAc		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							111	106	108					X																	78216970		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216970G>A	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.953G>A	X.37:g.78216970G>A	ENSP00000171757:p.Arg318His					P2RY10_uc004ede.3_Missense_Mutation_p.R318H|P2RY10_uc004edf.3_Missense_Mutation_p.R318H	p.R318H	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	953	+			318					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.953G>A	CCDS14442.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.29	1.310658	0.23821	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.40756	1.02;1.02	4.99	4.99	0.66335	.	1.640790	0.03461	N	0.212117	T	0.28599	0.0708	N	0.14661	0.345	0.19300	N	0.999977	P	0.37781	0.608	B	0.30716	0.119	T	0.17198	-1.0377	10	0.45353	T	0.12	.	9.6026	0.39615	0.0971:0.0:0.9029:0.0	.	318	O00398	P2Y10_HUMAN	H	318	ENSP00000443138:R318H;ENSP00000171757:R318H	ENSP00000171757:R318H	R	+	2	0	P2RY10	78103626	.	.	0.087000	0.20705	0.440000	0.31957	.	.	2.311000	0.77944	0.597000	0.82753	CGC		0.438	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			A	78216970	G	A	78216970	3	1	163	1	0	0	0	0	1	0	0	0	11347	1087	38	1	955	1	P2RY10	23	78216970	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	45809333	78216970	77053590	60	11587											
RPA4	29935	broad.mit.edu	37	chrX	96139918	96139918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcaatttcatccaggaCgaagtgctgcgtttgattca	10	11	9	11	3	2	1	2	1	0	0	3	3	3	2	2	1	2	3	2	1	2	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:96139918C>T	ENST00000373040.3	+	1	1012	c.609C>T	c.(607-609)gaC>gaT	p.D203D	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	203					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCATCCAGGACGAAGTGCTGC	0.522								Other identified genes with known or suspected DNA repair function																														uc004efv.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(607-609)gaC>gaT	Other identified genes with known or suspected DNA repair function	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.							159	120	133					X																	96139918		2203	4300	6503	SO:0001819	synonymous_variant	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139918C>T	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.609C>T	X.37:g.96139918C>T						DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	p.D203D	NM_013347	NP_037479	Q13156	RFA4_HUMAN			0	1012	+			203					Q3SY03	Silent	SNP	ENST00000373040.3	37	c.609C>T	CCDS35345.1																																																																																				0.522	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		T	96139918	C	T	96139918	2	4	163	1	0	0	0	0	0	0	0	1	13539	535	19	1		1	RPA4	23	96139918	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	17922948	96139918	59130642	61	11588											
RAB9B	51209	broad.mit.edu	37	chrX	103080537	103080537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcagtgtcccagaTctggagggttacaaagcgtc	8	9	12	12	1	1	1	0	0	1	1	3	2	2	2	2	2	4	2	2	2	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:103080537T>C	ENST00000243298.2	-	3	462	c.178A>G	c.(178-180)Atc>Gtc	p.I60V		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	60					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GTGTCCCAGATCTGGAGGGTT	0.507																																						uc004ell.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						c.(178-180)Atc>Gtc		Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.							115	93	101					X																	103080537		2203	4300	6503	SO:0001583	missense	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080537T>C	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"RAB, member RAS oncogene"	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.178A>G	X.37:g.103080537T>C	ENSP00000243298:p.Ile60Val					RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Missense_Mutation_p.I60V	p.I60V	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN			2	517	-			60					B2R8M0|Q52LX2	Missense_Mutation	SNP	ENST00000243298.2	37	c.178A>G	CCDS14515.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361298	0.61403	.	.	ENSG00000123570	ENST00000243298	T	0.79454	-1.27	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	M	0.64080	1.96	0.80722	D	1	D	0.63046	0.992	D	0.66847	0.947	D	0.85744	0.1339	10	0.52906	T	0.07	-2.9841	13.1314	0.59385	0.0:0.0:0.0:1.0	.	60	Q9NP90	RAB9B_HUMAN	V	60	ENSP00000243298:I60V	ENSP00000243298:I60V	I	-	1	0	RAB9B	102967193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.010000	0.58986	0.486000	0.48141	ATC		0.507	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1			C	103080537	T	C	103080537	3	2	163	1	0	0	0	0	1	0	0	0	12959	1435	50	4	431	4	RAB9B	23	103080537	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	6940619	103080537	52190023	62	11589											
KLHL13	90293	broad.mit.edu	37	chrX	117043525	117043525	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggggctaacgatttccActcatgggccttttcatcat	8	13	9	11	1	3	0	3	0	0	0	4	1	4	0	2	3	1	1	2	3	1	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:117043525A>T	ENST00000262820.3	-	5	2014	c.1105T>A	c.(1105-1107)Tgg>Agg	p.W369R	KLHL13_ENST00000545703.1_Missense_Mutation_p.W327R|KLHL13_ENST00000371878.1_Missense_Mutation_p.W318R|KLHL13_ENST00000371876.1_Missense_Mutation_p.W318R|KLHL13_ENST00000541812.1_Missense_Mutation_p.W353R|KLHL13_ENST00000539496.1_Missense_Mutation_p.W372R|KLHL13_ENST00000371882.1_Missense_Mutation_p.W318R|KLHL13_ENST00000540167.1_Missense_Mutation_p.W353R|KLHL13_ENST00000469946.1_Missense_Mutation_p.W318R	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	369					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACGATTTCCACTCATGGGCC	0.493																																						uc011mtp.2																			0		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1114-1116)Tgg>Agg		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.							102	90	94					X																	117043525		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043525A>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1105T>A	X.37:g.117043525A>T	ENSP00000262820:p.Trp369Arg					KLHL13_uc004eqk.3_Missense_Mutation_p.W318R|KLHL13_uc004eql.3_Missense_Mutation_p.W369R|KLHL13_uc011mtn.2_Missense_Mutation_p.W209R|KLHL13_uc011mto.2_Missense_Mutation_p.W363R|KLHL13_uc011mtq.2_Missense_Mutation_p.W353R|KLHL13_uc004eqm.3_Missense_Mutation_p.W327R|KLHL13_uc022cde.1_Missense_Mutation_p.W353R	p.W372R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			5	1247	-			369					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1114T>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425516	0.62733	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.02	3.84	0.44239	Galactose oxidase, beta-propeller (1);	0.060240	0.64402	D	0.000001	D	0.88771	0.6527	M	0.89904	3.07	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.991;0.999;0.999	D	0.88899	0.3351	10	0.87932	D	0	.	10.3406	0.43875	0.8507:0.0:0.0:0.1493	.	353;372;363;369	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	R	318;318;318;318;353;353;372;369;327;318	ENSP00000360949:W318R;ENSP00000360943:W318R;ENSP00000360945:W318R;ENSP00000412640:W318R;ENSP00000444450:W353R;ENSP00000441029:W353R;ENSP00000443191:W372R;ENSP00000262820:W369R;ENSP00000440707:W327R;ENSP00000419803:W318R	ENSP00000262820:W369R	W	-	1	0	KLHL13	116927553	1.000000	0.71417	0.810000	0.32431	0.994000	0.84299	9.139000	0.94554	0.699000	0.31761	0.481000	0.45027	TGG		0.493	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117043525	A	T	117043525	3	4	163	1	0	0	0	0	1	0	0	0	8369	159	6	5	874	5	KLHL13	23	117043525	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	13962988	117043525	38227035	63	11590											
MAGEA8	4107	broad.mit.edu	37	chrX	149013837	149013837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggagtaccgccaggCgcccggcagtgatcctgtgc	6	7	13	15	3	0	1	0	1	0	0	1	2	1	2	5	3	3	2	5	3	2	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:149013837C>T	ENST00000542674.1	+	3	1312	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MAGEA8_ENST00000286482.1_Missense_Mutation_p.A264V|MAGEA8_ENST00000535454.1_Missense_Mutation_p.A264V	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGCCAGGCGCCCGGCAGT	0.577																																						uc022cgq.1																			0		p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(790-792)gCg>gTg		Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.							108	103	104					X																	149013837		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013837C>T		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.791C>T	X.37:g.149013837C>T	ENSP00000443776:p.Ala264Val					MAGEA8_uc022cgo.1_Missense_Mutation_p.A264V|MAGEA8_uc004fdw.2_Missense_Mutation_p.A264V|MAGEA8_uc022cgp.1_Missense_Mutation_p.A264V	p.A264V	NM_005364	NP_005355	P43361	MAGA8_HUMAN			0	791	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.791C>T	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.085359	0.00371	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.03889	3.77;3.77;3.77	1.0	-2.01	0.07410	.	0.398443	0.27526	N	0.018972	T	0.00552	0.0018	N	0.00017	-2.845	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37197	-0.9716	10	0.02654	T	1	.	4.681	0.12734	0.0:0.2457:0.0:0.7543	.	264	P43361	MAGA8_HUMAN	V	264	ENSP00000438293:A264V;ENSP00000443776:A264V;ENSP00000286482:A264V	ENSP00000286482:A264V	A	+	2	0	MAGEA8	148774495	0.001000	0.12720	0.097000	0.21041	0.261000	0.26267	-0.038000	0.12144	-1.079000	0.03113	-2.572000	0.00171	GCG		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		T	149013837	C	T	149013837	3	4	163	1	0	0	0	0	1	0	0	0	9171	768	27	1	793	1	MAGEA8	23	149013837	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	31970312	149013837	6256723	64	11591											
PNCK	139728	broad.mit.edu	37	chrX	152937465	152937465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcggtcaaacagctcgccaCccgtcaccctgggggtgcca	7	6	12	16	3	2	0	2	0	0	0	3	0	2	0	4	3	4	1	4	3	1	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:152937465C>T	ENST00000370150.1	-	5	462	c.284G>A	c.(283-285)gGt>gAt	p.G95D	PNCK_ENST00000340888.3_Missense_Mutation_p.G95D|PNCK_ENST00000370142.1_Missense_Mutation_p.G95D|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Missense_Mutation_p.G178D|PNCK_ENST00000393831.2_Missense_Mutation_p.G95D|PNCK_ENST00000370145.4_Missense_Mutation_p.G112D			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGCCACCCGTCACCCT	0.662																																						uc011myu.2																			0				breast(2)|lung(3)|skin(1)	6						c.(532-534)gGt>gAt		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							39	35	36					X																	152937465		2203	4299	6502	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937465C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.284G>A	X.37:g.152937465C>T	ENSP00000359169:p.Gly95Asp					PNCK_uc011myt.2_Missense_Mutation_p.G112D|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.G122D|PNCK_uc011myw.2_Missense_Mutation_p.G122D	p.G178D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			4	719	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		95			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.533G>A		.	.	.	.	.	.	.	.	.	.	c	24.5	4.535748	0.85812	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	T	0.66694	0.2815	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74996	-0.3473	10	0.87932	D	0	-21.7197	16.1385	0.81506	0.0:1.0:0.0:0.0	.	122;178;112;95	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	D	95;95;95;95;112;178;95;95	ENSP00000340586:G95D;ENSP00000359169:G95D;ENSP00000377417:G95D;ENSP00000359161:G95D;ENSP00000359164:G112D;ENSP00000405950:G178D;ENSP00000415770:G95D;ENSP00000391772:G95D	ENSP00000340586:G95D	G	-	2	0	PNCK	152590659	1.000000	0.71417	0.061000	0.19648	0.910000	0.53928	7.657000	0.83745	2.060000	0.61445	0.529000	0.55759	GGT		0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		T	152937465	C	T	152937465	3	4	163	1	0	0	0	0	1	0	0	0	12145	507	18	3	775	3	PNCK	23	152937465	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	3923628	152937465	2333095	65	11592											
RAB39B	116442	broad.mit.edu	37	chrX	154490194	154490194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcctggattgtaatcTccccccttttaaccagctca	8	12	5	16	0	2	0	1	0	1	0	4	1	3	1	6	1	3	2	6	1	2	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:154490194T>C	ENST00000369454.3	-	2	836	c.536A>G	c.(535-537)gAg>gGg	p.E179G		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	179					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTT	0.463																																						uc004fne.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(535-537)gAg>gGg		Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.							112	94	100					X																	154490194		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490194T>C	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.536A>G	X.37:g.154490194T>C	ENSP00000358466:p.Glu179Gly						p.E179G	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			1	815	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		179					Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.536A>G	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128200	0.37533	.	.	ENSG00000155961	ENST00000369454	T	0.80566	-1.39	5.17	5.17	0.71159	.	0.114053	0.64402	D	0.000016	T	0.65883	0.2734	N	0.19112	0.55	0.58432	D	0.999997	B	0.31383	0.321	B	0.26770	0.073	T	0.64063	-0.6495	10	0.27082	T	0.32	.	12.0756	0.53641	0.0:0.0:0.0:1.0	.	179	Q96DA2	RB39B_HUMAN	G	179	ENSP00000358466:E179G	ENSP00000358466:E179G	E	-	2	0	RAB39B	154143388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.629000	0.83207	1.824000	0.53156	0.417000	0.27973	GAG		0.463	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		C	154490194	T	C	154490194	3	2	163	1	0	0	0	0	1	0	0	0	12930	1551	54	4	109	4	RAB39B	23	154490194	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	1552729	154490194	780366	66	11593											
KIF17	57576	broad.mit.edu	37	chr1	21009246	21009246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccccgctgtcctcatccGagttctgcagggcagccacc	6	8	10	17	2	2	0	1	0	1	0	5	1	5	0	6	1	2	4	6	1	0	1	rs370565385		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:21009246G>A	ENST00000247986.2	-	11	2673	c.2363C>T	c.(2362-2364)tCg>tTg	p.S788L	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S688L|KIF17_ENST00000400463.3_Missense_Mutation_p.S788L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	788					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTCCTCATCCGAGTTCTGCAG	0.607																																						uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2362-2364)tCg>tTg		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.		G	LEU/SER,LEU/SER	0,4406		0,0,2203	77	68	71		2363,2363	5.8	1	1		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIF17	NM_001122819.1,NM_020816.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	788/1029,788/1030	21009246	1,13005	2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009246G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2363C>T	1.37:g.21009246G>A	ENSP00000247986:p.Ser788Leu					KIF17_uc001bdp.4_Missense_Mutation_p.S66L|KIF17_uc009vpx.3_Missense_Mutation_p.S158L|KIF17_uc001bds.4_Missense_Mutation_p.S788L	p.S788L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	10	2481	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	788					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.2363C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214614	0.39102	0.0	1.16E-4	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.71934	-0.61;-0.5;-0.5	5.76	5.76	0.90799	.	0.320980	0.17268	U	0.180507	T	0.68997	0.3062	L	0.61218	1.895	0.25065	N	0.991034	P;P;B	0.39964	0.571;0.697;0.384	B;B;B	0.37550	0.129;0.253;0.078	T	0.64339	-0.6431	10	0.30078	T	0.28	.	17.1331	0.86732	0.0:0.0:1.0:0.0	.	788;788;788	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	L	688;788;788;169	ENSP00000364184:S688L;ENSP00000383311:S788L;ENSP00000247986:S788L	ENSP00000247986:S788L	S	-	2	0	KIF17	20881833	0.257000	0.24022	0.967000	0.41034	0.478000	0.33099	2.751000	0.47508	2.724000	0.93272	0.563000	0.77884	TCG		0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21009246	G	A	21009246	3	1	164	1	0	0	0	0	1	0	0	0	8279	1059	37	2	746	2	KIF17	1	21009246	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		21009246	228241375	1	11594											
DNALI1	7802	broad.mit.edu	37	chr1	38025070	38025070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcatctgccctgtcCgcagggaactctactcacag	11	7	9	14	1	3	0	1	0	2	0	4	1	4	1	2	2	4	2	2	2	3	1	rs375269116		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:38025070C>T	ENST00000296218.7	+	3	446	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	124					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCCTGTCCGCAGGGAACT	0.587																																						uc001cbj.3																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(436-438)Cgc>Tgc		Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	61	51	54		436	5.1	1	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNALI1	NM_003462.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	146/281	38025070	1,13005	2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38025070C>T	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.436C>T	1.37:g.38025070C>T	ENSP00000296218:p.Arg146Cys					DNALI1_uc010oie.2_Intron	p.R146C	NM_003462	NP_003453	O14645	IDLC_HUMAN			2	446	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	124					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.436C>T	CCDS420.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203546	0.95033	0.0	1.16E-4	ENSG00000163879	ENST00000296218	T	0.70282	-0.47	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.92898	0.6337	10	0.87932	D	0	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	124	O14645	IDLC_HUMAN	C	146	ENSP00000296218:R146C	ENSP00000296218:R146C	R	+	1	0	DNALI1	37797657	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	7.692000	0.84203	2.517000	0.84864	0.563000	0.77884	CGC		0.587	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		T	38025070	C	T	38025070	3	4	164	1	0	0	0	0	1	0	0	0	4659	652	23	2	446	2	DNALI1	1	38025070	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	17015824	38025070	211225551	2	11595											
TIE1	7075	broad.mit.edu	37	chr1	43784978	43784978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagattgcagacttcGgcctttctcggggagaggag	8	9	13	11	2	1	3	0	0	1	3	4	5	2	4	3	4	1	1	3	4	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:43784978G>T	ENST00000372476.3	+	18	3074	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G644C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	999	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCAGACTTCGGCCTTTCTCG	0.577																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2995-2997)Ggc>Tgc		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							109	104	106					1																	43784978		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43784978G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2995G>T	1.37:g.43784978G>T	ENSP00000361554:p.Gly999Cys					TIE1_uc010oke.2_Missense_Mutation_p.G954C|TIE1_uc009vwq.3_Missense_Mutation_p.G955C|TIE1_uc010okg.2_Missense_Mutation_p.G644C|TIE1_uc021omo.1_5'Flank	p.G999C	NM_005424	NP_005415	P35590	TIE1_HUMAN			17	3172	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	999			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2995G>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247955	0.95305	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.93133	-3.17;-3.17	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39759	N	0.001261	D	0.98147	0.9388	H	0.97158	3.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98604	1.0660	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	954;644;999	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	C	999;402;282;644	ENSP00000361554:G999C;ENSP00000411728:G644C	ENSP00000361553:G402C	G	+	1	0	TIE1	43557565	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.807000	0.99171	2.837000	0.97791	0.655000	0.94253	GGC		0.577	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		T	43784978	G	T	43784978	3	4	164	1	0	0	0	0	1	0	0	0	15890	1116	39	5	3065	5	TIE1	1	43784978	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	5759908	43784978	205465643	3	11596											
LCE3A	353142	broad.mit.edu	37	chr1	152595450	152595450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaggcagcagctgcgctCggagctgggcccacagcccc	7	4	13	17	2	1	0	1	0	0	0	2	1	1	1	3	3	5	5	3	3	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152595450C>T	ENST00000335674.1	-	1	129	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	44					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657																																						uc010pdt.2																			0				endometrium(1)|lung(5)	6						c.(130-132)Gag>Aag		Homo sapiens late cornified envelope 3A (LCE3A), mRNA.							47	50	49					1																	152595450		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595450C>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"Late cornified envelopes"	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.130G>A	1.37:g.152595450C>T	ENSP00000335006:p.Glu44Lys						p.E44K	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	130	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		44						Missense_Mutation	SNP	ENST00000335674.1	37	c.130G>A	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	2.312	-0.357604	0.05138	.	.	ENSG00000185962	ENST00000335674	T	0.03920	3.76	3.61	-0.756	0.11057	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.48175	-0.9058	8	0.87932	D	0	.	0.9802	0.01434	0.1834:0.4197:0.1787:0.2182	.	44	Q5TA76	LCE3A_HUMAN	K	44	ENSP00000335006:E44K	ENSP00000335006:E44K	E	-	1	0	LCE3A	150862074	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.407000	0.07178	-0.261000	0.09405	-0.913000	0.02753	GAG		0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		T	152595450	C	T	152595450	3	4	164	1	0	0	0	0	1	0	0	0	8669	893	31	2	142	2	LCE3A	1	152595450	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	108810472	152595450	96655171	4	11597											
HMCN1	83872	broad.mit.edu	37	chr1	186045741	186045741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacctcaagtgataaagtAttgattttgccaggtaaaga	14	12	9	6	0	1	4	1	3	0	1	1	4	1	4	2	1	1	2	2	1	6	6			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:186045741A>G	ENST00000271588.4	+	54	8701	c.8472A>G	c.(8470-8472)gtA>gtG	p.V2824V	HMCN1_ENST00000367492.2_Silent_p.V2824V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2824	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGATAAAGTATTGATTTTGC	0.428																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8470-8472)gtA>gtG		Homo sapiens hemicentin 1 (HMCN1), mRNA.							81	76	78					1																	186045741		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186045741A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8472A>G	1.37:g.186045741A>G						MIR548F1_uc021pgf.1_Intron	p.V2824V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			53	8701	+			2824			Ig-like C2-type 26.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8472A>G	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186045741	A	G	186045741	2	3	164	1	0	0	0	0	0	0	0	1	7220	436	16	4		4	HMCN1	1	186045741	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	33450291	186045741	63204880	5	11598											
LEFTY2	7044	broad.mit.edu	37	chr1	226127598	226127598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccggctcctggaagagccGcagcacggcctgcaccagct	8	4	13	16	3	0	1	0	0	0	1	1	3	1	2	5	3	4	5	5	3	1	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:226127598G>A	ENST00000366820.5	-	2	703	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LEFTY2_ENST00000420304.2_Intron|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'UTR	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	119					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGAAGAGCCGCAGCACGGCC	0.741																																					Colon(172;116 2643 9098 43333)	uc001hpt.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(355-357)Cgg>Tgg		Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.							3	4	3					1																	226127598		1594	3362	4956	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127598G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.355C>T	1.37:g.226127598G>A	ENSP00000355785:p.Arg119Trp					LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron	p.R119W	NM_003240	NP_003231	O00292	LFTY2_HUMAN			1	598	-	Breast(184;0.197)		119					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.355C>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	19.46	3.832154	0.71258	.	.	ENSG00000143768	ENST00000366820	T	0.72725	-0.68	4.25	3.17	0.36434	Transforming growth factor-beta, N-terminal (1);	0.057733	0.64402	D	0.000002	T	0.78861	0.4350	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.78252	-0.2276	10	0.44086	T	0.13	.	8.7823	0.34798	0.0:0.0:0.6139:0.3861	.	119	O00292	LFTY2_HUMAN	W	119	ENSP00000355785:R119W	ENSP00000355785:R119W	R	-	1	2	LEFTY2	224194221	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.418000	0.52721	2.082000	0.62665	0.561000	0.74099	CGG		0.741	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		A	226127598	G	A	226127598	3	1	164	1	0	0	0	0	1	0	0	0	8716	1086	38	1	757	1	LEFTY2	1	226127598	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	40081857	226127598	23123023	6	11599											
OR2T1	26696	broad.mit.edu	37	chr1	248569915	248569915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctctttggatggctTcctcctaacccccatcacca	6	11	9	15	0	2	0	1	0	1	0	4	1	4	1	5	4	1	2	5	4	1	3	rs373134110		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:248569915T>C	ENST00000366474.1	+	1	620	c.620T>C	c.(619-621)tTc>tCc	p.F207S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGATGGCTTCCTCCTAACC	0.537																																						uc010pzm.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(619-621)tTc>tCc		Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.		T	SER/PHE	0,4406		0,0,2203	103	98	99		620	3.7	0.9	1		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T1	NM_030904.1	155	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	207/370	248569915	1,13005	2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569915T>C	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.620T>C	1.37:g.248569915T>C	ENSP00000355430:p.Phe207Ser						p.F207S	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	620	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.620T>C	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	15.71	2.914033	0.52546	0.0	1.16E-4	ENSG00000175143	ENST00000366474	T	0.00099	8.73	4.84	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	U	0.001899	T	0.00144	0.0004	N	0.11364	0.135	0.09310	N	1	D	0.56521	0.976	P	0.57283	0.817	T	0.66081	-0.6012	10	0.46703	T	0.11	.	9.8694	0.41164	0.0:0.0847:0.0:0.9153	.	207	O43869	OR2T1_HUMAN	S	207	ENSP00000355430:F207S	ENSP00000355430:F207S	F	+	2	0	OR2T1	246636538	0.000000	0.05858	0.906000	0.35671	0.995000	0.86356	-0.494000	0.06451	2.026000	0.59711	0.528000	0.53228	TTC		0.537	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			C	248569915	T	C	248569915	3	2	164	1	0	0	0	0	1	0	0	0	11016	1783	62	4	622	4	OR2T1	1	248569915	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	22442317	248569915	680706	7	11600											
CCDC148	130940	broad.mit.edu	37	chr2	159215014	159215015	+	Frame_Shift_Ins	INS	-	-	T																															gcttcagttaatgcacgcaaINSttgttgatagtctactggtt																										TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:159215014_159215015insT	ENST00000283233.5	-	2	406_407	c.93_94insA	c.(91-96)caattgfs	p.L32fs	CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.L41fs|CCDC148_ENST00000409889.1_Frame_Shift_Ins_p.L32fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	32										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AATGCACGCAATTGTTGATAGT	0.322																																						uc002tzq.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(91-96)caattgfs		Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	130940							g.chr2:159215014_159215015insT		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.94dupA	2.37:g.159215016_159215016dupT	ENSP00000283233:p.Leu32fs					CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Frame_Shift_Ins_p.Q31fs	p.Q31fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			1	407_408	-			31					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Ins	INS	ENST00000283233.5	37	c.93_94insA	CCDS33304.1																																																																																				0.322	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		T	159215015	-	T	159215014	7	5	164	1	0	1	1	0	0	0	0	0	2782	98	4	0	1785	0	CCDC148	2	159215014	Frame_Shift_Ins	INS	-	TCGA-19-5951-01A-11D-1696-08		159215014	83984359	8	11601											
ITGB6	3694	broad.mit.edu	37	chr2	160993973	160993973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagccctttgtgtctcacGcaggagaaattgtcacactg	10	10	10	11	1	2	1	2	0	1	1	3	2	2	1	1	1	2	2	1	1	1	2	rs61737765	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:160993973G>A	ENST00000283249.2	-	10	1869	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	ITGB6_ENST00000409872.1_Silent_p.C544C|ITGB6_ENST00000428609.2_Silent_p.C502C|ITGB6_ENST00000409967.2_Silent_p.C544C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	544	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTGTCTCACGCAGGAGAAAT	0.527													G|||	8	0.00159744	0.0061	0	5008	,	,		23177	0		0	False		,,,				2504	0					uc002ubh.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1630-1632)tgC>tgT		Homo sapiens integrin, beta 6 (ITGB6), mRNA.		G		23,4383	29.9+/-59.1	0,23,2180	93	88	90		1632	-1.1	1	2	dbSNP_129	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB6	NM_000888.3		0,24,6479	AA,AG,GG		0.0116,0.522,0.1845		544/789	160993973	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160993973G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1632C>T	2.37:g.160993973G>A						ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	p.C544C	NM_000888	NP_000879	P18564	ITB6_HUMAN			9	1647	-			544			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1632C>T	CCDS2212.1																																																																																				0.527	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		A	160993973	G	A	160993973	2	1	164	1	0	0	0	0	0	0	0	1	7899	1079	38	1		1	ITGB6	2	160993973	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	1778959	160993973	82205400	9	11602											
COL6A3	1293	broad.mit.edu	37	chr2	238275681	238275681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccaccttagtgttggCgtgtcttccccctttgtaga	6	13	10	12	1	1	1	0	0	1	1	2	1	2	1	4	2	0	2	4	2	3	5	rs376135795		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:238275681C>T	ENST00000295550.4	-	11	5601	c.5149G>A	c.(5149-5151)Gcc>Acc	p.A1717T	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1511T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1516T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1517T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1110T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1511T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1717	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTAGTGTTGGCGTGTCTTCCC	0.542																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5149-5151)Gcc>Acc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							93	77	83					2																	238275681		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275681C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5149G>A	2.37:g.238275681C>T	ENSP00000295550:p.Ala1717Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	p.A1717T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5434	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1717			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5149G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705273	0.48412	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000046	T	0.63462	0.2513	N	0.05050	-0.12	0.46222	D	0.998934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.968	T	0.58312	-0.7658	10	0.05620	T	0.96	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	1110;1511;1717	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1717;1516;1511;1110;1511;1517	ENSP00000295550:A1717T;ENSP00000315609:A1516T;ENSP00000315873:A1511T;ENSP00000418285:A1110T;ENSP00000386844:A1511T;ENSP00000295546:A1517T	ENSP00000295550:A1717T	A	-	1	0	COL6A3	237940420	0.997000	0.39634	0.954000	0.39281	0.539000	0.34962	3.343000	0.52167	2.604000	0.88044	0.650000	0.86243	GCC		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238275681	C	T	238275681	3	4	164	1	0	0	0	0	1	0	0	0	3701	768	27	1	4520	1	COL6A3	2	238275681	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	77281708	238275681	4923692	10	11603											
BSN	8927	broad.mit.edu	37	chr3	49689184	49689184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggggagcagcatgcGgcctttgctgcaggcccagg	7	6	17	11	1	0	0	0	0	0	0	0	1	0	1	2	6	5	4	2	6	1	1	rs376181418		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:49689184G>A	ENST00000296452.4	+	5	2309	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	732					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCATGCGGCCTTTGCTG	0.667																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2194-2196)cGg>cAg		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.			GLN/ARG	0,4406		0,0,2203	47	47	47		2195	4.2	0.9	3		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	732/3927	49689184	1,13005	2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689184G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2195G>A	3.37:g.49689184G>A	ENSP00000296452:p.Arg732Gln						p.R732Q	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	2309	+			732					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2195G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.028345	0.35797	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.19938	2.11	5.06	4.19	0.49359	.	0.201811	0.40064	N	0.001197	T	0.18425	0.0442	M	0.64997	1.995	0.35097	D	0.764868	P	0.40144	0.704	B	0.27608	0.081	T	0.30090	-0.9990	10	0.29301	T	0.29	.	13.2399	0.59992	0.0773:0.0:0.9227:0.0	.	732	Q9UPA5	BSN_HUMAN	Q	732	ENSP00000296452:R732Q	ENSP00000296452:R732Q	R	+	2	0	BSN	49664188	1.000000	0.71417	0.950000	0.38849	0.828000	0.46876	3.544000	0.53640	1.119000	0.41883	0.556000	0.70494	CGG		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49689184	G	A	49689184	3	1	164	1	0	0	0	0	1	0	0	0	1530	1116	39	2	2213	2	BSN	3	49689184	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		49689184	148333246	11	11604											
SEMA3G	56920	broad.mit.edu	37	chr3	52475289	52475289	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcttaccacgcagacGcggcccacgcggctgacagt	8	5	11	17	5	1	2	0	1	1	1	1	2	1	2	3	2	2	3	3	2	1	1	rs138050174		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:52475289G>A	ENST00000231721.2	-	7	803	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	268	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGCAGACGCGGCCCACGC	0.612																																						uc003dea.1																			0		p.R268C(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(802-804)cgC>cgT		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	59	47	51		804	-9.1	0	3	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	SEMA3G	NM_020163.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		268/783	52475289	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475289G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.804C>T	3.37:g.52475289G>A							p.R268R	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	6	804	-			268			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.804C>T	CCDS2856.1																																																																																				0.612	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		A	52475289	G	A	52475289	2	1	164	1	0	0	0	0	0	0	0	1	14030	1074	38	1		1	SEMA3G	3	52475289	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	2786105	52475289	145547141	12	11605											
PLXNA1	5361	broad.mit.edu	37	chr3	126733439	126733439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaaggtgctgtgcaGccctgtggagagcgagtaca	8	7	17	9	2	0	1	0	0	0	1	0	3	0	1	1	3	5	4	1	3	2	1	rs138171477		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:126733439G>A	ENST00000393409.2	+	12	2723	c.2723G>A	c.(2722-2724)aGc>aAc	p.S908N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S885N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	908	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCTGTGCAGCCCTGTGGAG	0.701																																						uc003ejg.3																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2722-2724)aGc>aAc		Homo sapiens plexin A1 (PLXNA1), mRNA.		G	ASN/SER	0,4406		0,0,2203	78	81	80		2723	3.8	1	3	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA1	NM_032242.3	46	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	908/1897	126733439	1,13005	2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733439G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2723G>A	3.37:g.126733439G>A	ENSP00000377061:p.Ser908Asn						p.S908N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	11	2723	+			908			IPT/TIG 1.			Missense_Mutation	SNP	ENST00000393409.2	37	c.2723G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600751	0.13939	0.0	1.16E-4	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76186	-1.0;-1.0	3.78	3.78	0.43462	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.381644	0.24571	N	0.037388	T	0.49338	0.1551	N	0.08118	0	0.26683	N	0.971499	B	0.02656	0.0	B	0.09377	0.004	T	0.25779	-1.0122	10	0.11182	T	0.66	.	9.6828	0.40080	0.0:0.0:0.6291:0.3709	.	908	Q9UIW2	PLXA1_HUMAN	N	908;885	ENSP00000377061:S908N;ENSP00000251772:S885N	ENSP00000251772:S885N	S	+	2	0	PLXNA1	128216129	0.997000	0.39634	1.000000	0.80357	0.772000	0.43724	0.859000	0.27858	2.125000	0.65367	0.484000	0.47621	AGC		0.701	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		A	126733439	G	A	126733439	3	1	164	1	0	0	0	0	1	0	0	0	12119	971	34	3	2769	3	PLXNA1	3	126733439	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	74258150	126733439	71288991	13	11606											
D4S234E	27065	broad.mit.edu	37	chr4	4411320	4411320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccgtgttggtcctcttCgccctggccttcctcacctg	1	14	9	17	2	3	0	1	0	2	0	7	0	5	0	6	2	0	1	6	2	0	3	rs143847165		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:4411320C>T	ENST00000421177.2	+	8	2258	c.267C>T	c.(265-267)ttC>ttT	p.F89F	NSG1_ENST00000397958.1_Silent_p.F89F|NSG1_ENST00000433139.2_Silent_p.F89F|NSG1_ENST00000513555.1_Silent_p.F89F|NSG1_ENST00000506380.1_Silent_p.F89F|NSG1_ENST00000504171.1_Silent_p.F50F|NSG1_ENST00000505246.1_Silent_p.F89F			P42857	NSG1_HUMAN		89					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGGTCCTCTTCGCCCTGGCCT	0.617																																						uc011bvz.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(265-267)ttC>ttT		Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	168	128	142		267,267	-4.5	0.8	4	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	D4S234E	NM_001040101.1,NM_014392.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	89/186,89/186	4411320	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4411320C>T																												ENST00000421177.2:c.267C>T	4.37:g.4411320C>T						D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.3_Silent_p.F89F|D4S234E_uc003gia.3_Silent_p.F89F	p.F89F	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	6	1548	+			89					B4DXC5|Q49AQ1	Silent	SNP	ENST00000421177.2	37	c.267C>T	CCDS3376.1																																																																																				0.617	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			T	4411320	C	T	4411320	2	4	164	1	0	0	0	0	0	0	0	1	4214	883	31	2		2	D4S234E	4	4411320	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		4411320	186742956	14	11607											
UGT2A3	79799	broad.mit.edu	37	chr4	69795715	69795715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttggctcctttgtggCgcatgacaaactcgatccag	7	11	12	11	2	0	1	0	1	0	0	3	2	2	1	2	3	2	3	2	3	1	2	rs553189244		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:69795715C>T	ENST00000251566.4	-	6	1430	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A3_ENST00000420231.2_Missense_Mutation_p.R178H	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	467					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTTTGTGGCGCATGACAAA	0.488																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1399-1401)cGc>cAc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							92	93	92					4																	69795715		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795715C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1400G>A	4.37:g.69795715C>T	ENSP00000251566:p.Arg467His					UGT2A3_uc010ihp.1_Non-coding_Transcript	p.R467H	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			5	1431	-			467					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1400G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015305	0.19355	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.72725	-0.68;-0.68	2.22	1.3	0.21679	.	0.058367	0.64402	D	0.000002	T	0.65709	0.2717	M	0.76002	2.32	0.33073	D	0.535627	B	0.27882	0.192	B	0.27500	0.08	T	0.67421	-0.5675	10	0.56958	D	0.05	.	7.5802	0.27961	0.2567:0.7433:0.0:0.0	.	467	Q6UWM9	UD2A3_HUMAN	H	467;178	ENSP00000251566:R467H;ENSP00000440115:R178H	ENSP00000251566:R467H	R	-	2	0	UGT2A3	69830304	0.838000	0.29461	1.000000	0.80357	0.078000	0.17371	1.832000	0.39151	0.239000	0.21243	-0.500000	0.04577	CGC		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		T	69795715	C	T	69795715	3	4	164	1	0	0	0	0	1	0	0	0	16952	768	27	1	187	1	UGT2A3	4	69795715	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	65384395	69795715	121358561	15	11608											
EGF	1950	broad.mit.edu	37	chr4	110864421	110864421	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgcagagagtatgtaaTatagagaaaaatgtttctgg	15	14	10	2	0	1	2	0	0	1	2	1	4	1	2	0	1	1	4	0	1	6	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:110864421T>C	ENST00000265171.5	+	3	784	c.339T>C	c.(337-339)aaT>aaC	p.N113N	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Silent_p.N113N|EGF_ENST00000503392.1_Silent_p.N113N	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	113					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GAGTATGTAATATAGAGAAAA	0.254																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(337-339)aaT>aaC		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						42	49	46					4																	110864421		2195	4290	6485	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864421T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.339T>C	4.37:g.110864421T>C						EGF_uc011cfu.2_Silent_p.N113N|EGF_uc011cfv.2_Silent_p.N113N	p.N113N	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	2	791	+		Hepatocellular(203;0.0893)	113					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.339T>C	CCDS3689.1																																																																																				0.254	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			C	110864421	T	C	110864421	2	2	164	1	0	0	0	0	0	0	0	1	4962	1403	49	4		4	EGF	4	110864421	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	41068706	110864421	80289855	16	11609											
FAT4	79633	broad.mit.edu	37	chr4	126241369	126241369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacctctggtcaggtaaCactaattggcaaattagact	13	11	8	9	0	2	1	1	0	1	1	2	1	2	1	1	3	2	3	1	3	5	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:126241369C>T	ENST00000394329.3	+	1	3816	c.3803C>T	c.(3802-3804)aCa>aTa	p.T1268I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1268	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCAGGTAACACTAATTGGC	0.373																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3802-3804)aCa>aTa		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							83	76	78					4																	126241369		1868	4109	5977	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241369C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3803C>T	4.37:g.126241369C>T	ENSP00000377862:p.Thr1268Ile						p.T1268I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			0	3803	+			1268			Cadherin 12.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3803C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083715	0.36758	.	.	ENSG00000196159	ENST00000394329	T	0.01821	4.62	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.215706	0.21825	U	0.068569	T	0.02418	0.0074	L	0.35341	1.055	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.59910	-0.7365	10	0.27785	T	0.31	.	18.0596	0.89373	0.0:1.0:0.0:0.0	.	1268	Q6V0I7	FAT4_HUMAN	I	1268	ENSP00000377862:T1268I	ENSP00000377862:T1268I	T	+	2	0	FAT4	126460819	1.000000	0.71417	0.876000	0.34364	0.990000	0.78478	5.782000	0.68973	2.503000	0.84419	0.561000	0.74099	ACA		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126241369	C	T	126241369	3	4	164	1	0	0	0	0	1	0	0	0	5692	478	17	3	3805	3	FAT4	4	126241369	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	15376948	126241369	64912907	17	11610											
INPP4B	8821	broad.mit.edu	37	chr4	143159105	143159105	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacatctgctctcgaattcGcatccacttattgtcagatg	9	14	7	11	2	3	2	1	1	2	1	6	3	4	2	1	0	1	2	1	0	2	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:143159105G>A	ENST00000513000.1	-	13	1181	c.748C>T	c.(748-750)Cga>Tga	p.R250*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.R250*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.R250*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.R250*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.R250*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	250					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCGAATTCGCATCCACTTA	0.318																																						uc003iix.4																			0		p.R250Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(748-750)Cga>Tga		Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.							46	46	46					4																	143159105		2201	4295	6496	SO:0001587	stop_gained	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159105G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.748C>T	4.37:g.143159105G>A	ENSP00000425487:p.Arg250*					INPP4B_uc003iiw.4_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	p.R250*	NM_003866	NP_003857	O15327	INP4B_HUMAN			12	1343	-	all_hematologic(180;0.158)		250					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	ENST00000513000.1	37	c.748C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641784	0.67244	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.49	2.61	0.31194	.	0.417260	0.24398	N	0.038872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	6.4456	0.21875	0.1285:0.0:0.4961:0.3755	.	.	.	.	X	250;250;250;121;250;250;65;65;250;121	.	ENSP00000262992:R250X	R	-	1	2	INPP4B	143378555	0.988000	0.35896	0.997000	0.53966	0.514000	0.34195	1.525000	0.35953	0.748000	0.32831	-0.169000	0.13324	CGA		0.318	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		A	143159105	G	A	143159105	4	1	164	1	0	0	0	0	0	1	0	0	7753	1095	38	1	2086	1	INPP4B	4	143159105	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	16917736	143159105	47995171	18	11611											
SH3RF1	57630	broad.mit.edu	37	chr4	170043337	170043337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattccagcagcagcagcAgcggcggtggcgcctggtgg	6	5	16	14	3	0	0	0	0	0	0	1	0	1	0	3	5	5	4	3	5	0	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:170043337A>G	ENST00000284637.9	-	7	1601	c.1260T>C	c.(1258-1260)gcT>gcC	p.A420A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	420	Poly-Ala.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCAGCGGCGGTGG	0.582																																						uc003isa.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1258-1260)gcT>gcC		Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.							47	43	44					4																	170043337		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043337A>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1260T>C	4.37:g.170043337A>G						SH3RF1_uc010irc.1_Silent_p.A120A	p.A420A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	6	1595	-		Prostate(90;0.00267)|Renal(120;0.0183)	420			Poly-Ala.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1260T>C	CCDS34099.1																																																																																				0.582	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		G	170043337	A	G	170043337	2	3	164	1	0	0	0	0	0	0	0	1	14258	175	7	4		4	SH3RF1	4	170043337	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	26884232	170043337	21110939	19	11612											
DNAH5	1767	broad.mit.edu	37	chr5	13719110	13719110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtggtcatccagaggCggaacgcatcatgtacaagc	10	7	12	12	3	2	1	2	0	0	1	4	2	3	2	2	4	3	2	2	4	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:13719110C>T	ENST00000265104.4	-	72	12484	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4127	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCCAGAGGCGGAACGCATC	0.493									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12379-12381)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							143	138	140					5																	13719110		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719110C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12380G>A	5.37:g.13719110C>T	ENSP00000265104:p.Arg4127His					DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	p.R4127H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12422	-	Lung NSC(4;0.00476)		4127			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12380G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223546	0.58668	.	.	ENSG00000039139	ENST00000265104	T	0.33438	1.41	5.59	4.73	0.59995	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	H	0.99516	4.605	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	D	0.85301	0.1073	10	0.87932	D	0	.	14.4431	0.67330	0.0:0.9295:0.0:0.0705	.	4127	Q8TE73	DYH5_HUMAN	H	4127	ENSP00000265104:R4127H	ENSP00000265104:R4127H	R	-	2	0	DNAH5	13772110	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	7.709000	0.84645	1.366000	0.46076	-0.142000	0.14014	CGC		0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13719110	C	T	13719110	3	4	164	1	0	0	0	0	1	0	0	0	4604	768	27	1	1526	1	DNAH5	5	13719110	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		13719110	167196150	20	11613											
TRIO	7204	broad.mit.edu	37	chr5	14462975	14462975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgacgccgtgcccctgCcgccacccatggccatccag	5	4	12	20	4	0	0	0	0	0	0	1	1	1	0	9	2	2	0	9	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:14462975C>G	ENST00000344204.4	+	36	5632	c.5608C>G	c.(5608-5610)Ccg>Gcg	p.P1870A	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.P1870A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1870					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGTGCCCCTGCCGCCACCCAT	0.652																																						uc003jff.3																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(5608-5610)Ccg>Gcg		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							33	37	36					5																	14462975		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14462975C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5608C>G	5.37:g.14462975C>G	ENSP00000339299:p.Pro1870Ala					TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A	p.P1870A	NM_007118	NP_009049	O75962	TRIO_HUMAN			35	5614	+	Lung NSC(4;0.000742)		1870					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.5608C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199455	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.75050	-0.9;-0.85	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.72118	2.19	0.80722	D	1	D;B;D	0.76494	0.999;0.113;0.999	D;B;D	0.80764	0.994;0.032;0.991	D	0.87059	0.2152	10	0.72032	D	0.01	.	19.3484	0.94374	0.0:1.0:0.0:0.0	.	1870;1870;1870	D3DTD2;O75962-5;O75962	.;.;TRIO_HUMAN	A	1870;1870;1557	ENSP00000339299:P1870A;ENSP00000446348:P1870A	ENSP00000339299:P1870A	P	+	1	0	TRIO	14515975	1.000000	0.71417	0.941000	0.38009	0.377000	0.30045	7.755000	0.85180	2.570000	0.86706	0.655000	0.94253	CCG		0.652	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14462975	C	G	14462975	3	3	164	1	0	0	0	0	1	0	0	0	16549	739	26	5	5750	5	TRIO	5	14462975	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	743865	14462975	166452285	21	11614											
GDNF	2668	broad.mit.edu	37	chr5	37816010	37816010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagacccaagtcagtgaCatttaaatgtattgcagtta	13	11	8	9	0	1	2	1	1	0	1	1	2	1	2	2	0	1	3	2	0	5	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:37816010C>T	ENST00000326524.2	-	3	578	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	GDNF_ENST00000381826.4_Missense_Mutation_p.V118I|GDNF_ENST00000515058.1_Missense_Mutation_p.V101I|GDNF_ENST00000427982.1_Missense_Mutation_p.V144I|GDNF_ENST00000344622.4_Missense_Mutation_p.V101I	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	127					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTCAGTGACATTTAAATGT	0.493																																						uc011cpi.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(379-381)Gtc>Atc		Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.							104	107	106					5																	37816010		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816010C>T		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.379G>A	5.37:g.37816010C>T	ENSP00000317145:p.Val127Ile					GDNF_uc011cpd.2_Missense_Mutation_p.V75I|GDNF_uc011cpe.2_Missense_Mutation_p.V101I|GDNF_uc011cpf.2_Missense_Mutation_p.V101I|GDNF_uc011cpg.2_Missense_Mutation_p.V144I|GDNF_uc011cph.2_Missense_Mutation_p.V118I	p.V127I	NM_000514	NP_000505	P39905	GDNF_HUMAN			2	579	-	all_lung(31;0.00118)		127					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.379G>A	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473953	0.84640	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.76	5.76	0.90799	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.76494	0.994;0.965;0.998;0.999	D;D;D;D	0.85130	0.995;0.981;0.996;0.997	D	0.94873	0.8032	10	0.72032	D	0.01	-14.6879	19.9576	0.97228	0.0:1.0:0.0:0.0	.	127;118;144;101	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	I	127;101;101;144;118	ENSP00000317145:V127I;ENSP00000339703:V101I;ENSP00000425928:V101I;ENSP00000409007:V144I;ENSP00000371248:V118I	ENSP00000317145:V127I	V	-	1	0	GDNF	37851767	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.487000	0.81328	2.736000	0.93811	0.655000	0.94253	GTC		0.493	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		T	37816010	C	T	37816010	3	4	164	1	0	0	0	0	1	0	0	0	6322	478	17	3	259	3	GDNF	5	37816010	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	23353035	37816010	143099250	22	11615											
PIK3R1	5295	broad.mit.edu	37	chr5	67589199	67589213	+	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG	-																															atatggcttctctgacccatTaaccttcagttctgtggttg																										TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	ENST00000521381.1	+	10	1803_1817	c.1187_1201delTAACCTTCAGTTCTG	c.(1186-1203)ttaaccttcagttctgtg>ttg	p.TFSSV397del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.TFSSV34del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.TFSSV397del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.TFSSV397del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.TFSSV397del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.TFSSV127del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.TFSSV97del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	397	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT	0.326			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1186-1203)ttaaccttcagttctgtg>ttg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1187_1201delTAACCTTCAGTTCTG	5.37:g.67589199_67589213delTAACCTTCAGTTCTG	ENSP00000428056:p.Thr397_Val401del	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.3_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.3_In_Frame_Del_p.TFSSV76del|PIK3R1_uc021xzn.1_In_Frame_Del_p.TFSSV34del|PIK3R1_uc011crb.2_In_Frame_Del_p.TFSSV67del	p.TFSSV397del	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1767_1781	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	397			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1187_1201delTAACCTTCAGTTCTG	CCDS3993.1																																																																																				0.326	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67589213	TAACCTTCAGTTCTG	-	67589199	7	5	164	1	0	1	0	1	0	0	0	0	11918	1764	61	0	1351	0	PIK3R1	5	67589199	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TCGA-19-5951-01A-11D-1696-08	29773189	67589199	113326061	23	11616											
PCDHA6	56142	broad.mit.edu	37	chr5	140208958	140208958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttggtggtaaccgcgCgggacgggggctcgccttcg	5	8	18	10	6	0	1	0	1	0	0	2	2	0	2	2	5	1	3	2	5	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140208958C>T	ENST00000529310.1	+	1	1396	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R428W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACCGCGCGGGACGGGGG	0.617																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1282-1284)Cgg>Tgg		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							87	96	93					5																	140208958		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140208958C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1282C>T	5.37:g.140208958C>T	ENSP00000433378:p.Arg428Trp					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R428W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R428W	p.R428W	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1309	+			442			Cadherin 4.		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1282C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	0.353	-0.943651	0.02322	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01804	4.63;4.63	3.7	0.359	0.16088	Cadherin (5);Cadherin-like (1);	0.000000	0.33732	U	0.004611	T	0.01627	0.0052	L	0.33189	0.99	0.09310	N	1	P;P;P	0.43287	0.631;0.546;0.802	B;B;B	0.39094	0.136;0.214;0.29	T	0.50259	-0.8849	10	0.59425	D	0.04	.	8.1384	0.31069	0.4947:0.3778:0.1275:0.0	.	428;428;428	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	428	ENSP00000433378:R428W;ENSP00000434113:R428W	ENSP00000434113:R428W	R	+	1	2	PCDHA6	140189142	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	-1.364000	0.02590	0.291000	0.22468	0.313000	0.20887	CGG		0.617	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		T	140208958	C	T	140208958	3	4	164	1	0	0	0	0	1	0	0	0	11528	759	27	1	1284	1	PCDHA6	5	140208958	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	72619759	140208958	40706302	24	11617											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735359	140735359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagagctggtgctggaaCgcgctctagatcgcgaggaa	10	6	14	11	4	1	2	0	0	1	2	2	5	1	4	1	3	3	3	1	3	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140735359C>T	ENST00000571252.1	+	1	592	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGAACGCGCTCTAGA	0.562																																						uc003ljq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(592-594)Cgc>Tgc		Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.							28	31	30					5																	140735359		2158	4285	6443	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735359C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.592C>T	5.37:g.140735359C>T	ENSP00000458570:p.Arg198Cys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R198C	p.R198C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	592	+			198			Cadherin 2.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.592C>T	CCDS58979.1																																																																																				0.562	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140735359	C	T	140735359	3	4	164	1	0	0	0	0	1	0	0	0	11556	536	19	1	594	1	PCDHGA4	5	140735359	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	526401	140735359	40179901	25	11618											
PPARGC1B	133522	broad.mit.edu	37	chr5	149219665	149219665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcacgccaggaagcggCgggaaaaggccattgtaagt	11	5	15	10	4	0	0	0	0	0	0	1	2	1	2	3	5	1	2	3	5	4	2	rs182592244	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:149219665C>T	ENST00000309241.5	+	9	2712	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R830W|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R894W|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R855W	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	894					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGAAGCGGCGGGAAAAGGC	0.577													C|||	3	0.000599042	0.0015	0	5008	,	,		18703	0.001		0	False		,,,				2504	0					uc003lrc.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2680-2682)Cgg>Tgg		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	53	50	51		2563,2488,2680	3.1	1	5		51	0,8600		0,0,4300	no	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	855/985,830/960,894/1024	149219665	1,13005	2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149219665C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2680C>T	5.37:g.149219665C>T	ENSP00000312649:p.Arg894Trp					PPARGC1B_uc003lrb.2_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R855W|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R830W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R873W	p.R894W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2771	+			894					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2680C>T	CCDS4298.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	14.36|14.36	2.510736|2.510736	0.44660|0.44660	2.27E-4|2.27E-4	0.0|0.0	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.|T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82	5.05|5.05	3.06|3.06	0.35304|0.35304	.|Nucleotide-binding, alpha-beta plait (1);	.|0.099637	.|0.43110	.|D	.|0.000610	T|T	0.39545|0.39545	0.1082|0.1082	M|M	0.65975|0.65975	2.015|2.015	0.39522|0.39522	D|D	0.968523|0.968523	.|B;B;B;B;P	.|0.37398	.|0.052;0.101;0.052;0.031;0.593	.|B;B;B;B;B	.|0.29176	.|0.033;0.067;0.033;0.015;0.099	T|T	0.47018|0.47018	-0.9149|-0.9149	5|10	.|0.87932	.|D	.|0	-14.4042|-14.4042	8.1133|8.1133	0.30928|0.30928	0.2739:0.6367:0.0:0.0894|0.2739:0.6367:0.0:0.0894	.|.	.|873;873;855;894;894	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	V|W	580|855;894;894;830	.|ENSP00000353638:R855W;ENSP00000377855:R894W;ENSP00000312649:R894W;ENSP00000384403:R830W	.|ENSP00000312649:R894W	A|R	+|+	2|1	0|2	PPARGC1B|PPARGC1B	149199858|149199858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.869000|1.869000	0.39519|0.39519	1.129000|1.129000	0.42072|0.42072	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		T	149219665	C	T	149219665	3	4	164	1	0	0	0	0	1	0	0	0	12301	759	27	1	2721	1	PPARGC1B	5	149219665	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	8484306	149219665	31695595	26	11619											
NRN1	51299	broad.mit.edu	37	chr6	5999377	5999377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttatcccacatatctttCgccccttcctggcaatccgt	7	14	5	15	2	1	0	0	0	1	0	5	0	4	0	5	1	0	2	5	1	3	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:5999377C>T	ENST00000244766.2	-	3	478	c.261G>A	c.(259-261)gcG>gcA	p.A87A	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	87					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ACATATCTTTCGCCCCTTCCT	0.527																																						uc003mwu.3																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(259-261)gcG>gcA		Homo sapiens neuritin 1 (NRN1), mRNA.							93	83	86					6																	5999377		2203	4300	6503	SO:0001819	synonymous_variant	51299					anchored to membrane|plasma membrane		g.chr6:5999377C>T	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.261G>A	6.37:g.5999377C>T						NRN1_uc021ykx.1_Non-coding_Transcript	p.A87A	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	912	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	87					B2RA93|Q7Z4Y1	Silent	SNP	ENST00000244766.2	37	c.261G>A	CCDS4495.1																																																																																				0.527	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			T	5999377	C	T	5999377	2	4	164	1	0	0	0	0	0	0	0	1	10658	871	31	2		2	NRN1	6	5999377	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		5999377	165115690	27	11620											
DSP	1832	broad.mit.edu	37	chr6	7584664	7584664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcgtttaccagttgacaTagcatataagaggggctatt	12	12	9	8	1	0	2	0	1	0	1	1	2	0	2	2	2	2	4	2	2	5	8			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:7584664T>C	ENST00000379802.3	+	24	7510	c.7169T>C	c.(7168-7170)aTa>aCa	p.I2390T	DSP_ENST00000418664.2_Missense_Mutation_p.I1791T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2390	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGTTGACATAGCATATAAG	0.443																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7168-7170)aTa>aCa		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							84	82	82					6																	7584664		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584664T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7169T>C	6.37:g.7584664T>C	ENSP00000369129:p.Ile2390Thr					DSP_uc003mxq.1_Missense_Mutation_p.I1791T|DSP_uc021yle.1_Missense_Mutation_p.I1947T	p.I2390T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	7448	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2390			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7169T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259536	0.23051	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72725	-0.68;-0.68	5.6	5.6	0.85130	.	0.244920	0.36628	N	0.002494	T	0.26159	0.0638	N	0.12182	0.205	0.24965	N	0.9917	B;B	0.32781	0.384;0.001	B;B	0.28709	0.093;0.004	T	0.05869	-1.0859	10	0.13470	T	0.59	.	8.4104	0.32640	0.0:0.116:0.0:0.884	.	1838;2390	Q4LE79;P15924	.;DESP_HUMAN	T	2390;1791	ENSP00000369129:I2390T;ENSP00000396591:I1791T	ENSP00000369129:I2390T	I	+	2	0	DSP	7529663	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.114000	0.64648	2.127000	0.65507	0.533000	0.62120	ATA		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		C	7584664	T	C	7584664	3	2	164	1	0	0	0	0	1	0	0	0	4781	1406	49	4	7263	4	DSP	6	7584664	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	1585287	7584664	163530403	28	11621											
GPR146	115330	broad.mit.edu	37	chr7	1098107	1098107	+	Frame_Shift_Del	DEL	G	G	-																															aaagctgccctgcggggaccGgcactgctccccggaccaca																								rs147446123		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:1098107delG	ENST00000397095.1	+	2	1179	c.956delG	c.(955-957)cggfs	p.R319fs	RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPR146_ENST00000297468.3_Frame_Shift_Del_p.R319fs|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCGGGGACCGGCACTGCTCC	0.617																																						uc003sjx.4																			0				autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8						c.(955-957)cggfs		Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.							39	44	42					7																	1098107		2203	4300	6503	SO:0001589	frameshift_variant	115330					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:1098107delG	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.956delG	7.37:g.1098107delG	ENSP00000380283:p.Arg319fs					C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	p.R319fs	NM_138445	NP_612454	Q96CH1	GP146_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	1	1155	+		Ovarian(82;0.0779)	319					Q86SP5	Frame_Shift_Del	DEL	ENST00000397095.1	37	c.956delG	CCDS5321.1																																																																																				0.617	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		-	1098107	G	-	1098107	7	5	164	1	0	1	0	1	0	0	0	0	6652	1116	39	0	958	0	GPR146	7	1098107	Frame_Shift_Del	DEL	G	TCGA-19-5951-01A-11D-1696-08		1098107	158040556	29	11622											
PDE1C	5137	broad.mit.edu	37	chr7	31855673	31855673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcagctttgccagatgCgccttcttcagcctggcttt	4	16	8	13	1	3	1	2	0	2	1	4	1	3	1	3	1	4	2	3	1	0	5	rs558149608		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:31855673C>T	ENST00000396191.1	-	15	2133	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	PDE1C_ENST00000396182.2_Missense_Mutation_p.A560T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A620T|PDE1C_ENST00000396184.3_Missense_Mutation_p.A560T|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A560T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	560					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTGCCAGATGCGCCTTCTTCA	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		19217	0		0	False		,,,				2504	0					uc003tcm.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1678-1680)Gca>Aca		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.							221	218	219					7																	31855673		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855673C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1678G>A	7.37:g.31855673C>T	ENSP00000379494:p.Ala560Thr					PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.2_Missense_Mutation_p.A620T|PDE1C_uc003tcr.3_Missense_Mutation_p.A560T|PDE1C_uc003tcs.3_Missense_Mutation_p.A560T	p.A560T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	2139	-			560					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1678G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	6.517	0.463641	0.12402	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72394	-0.64;-0.64;-0.64;-0.65;-0.65	4.92	-1.4	0.08968	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.209480	0.06078	N	0.661375	T	0.44371	0.1290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22173	-1.0224	10	0.10111	T	0.7	.	5.8546	0.18712	0.1245:0.492:0.0:0.3835	.	560;620;560	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	T	620;560;560;560;560	ENSP00000379496:A620T;ENSP00000379494:A560T;ENSP00000318105:A560T;ENSP00000379487:A560T;ENSP00000379485:A560T	ENSP00000318105:A560T	A	-	1	0	PDE1C	31822198	0.013000	0.17824	0.002000	0.10522	0.666000	0.39218	0.306000	0.19279	-0.416000	0.07473	-0.290000	0.09829	GCA		0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			T	31855673	C	T	31855673	3	4	164	1	0	0	0	0	1	0	0	0	11635	768	27	1	238	1	PDE1C	7	31855673	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	30757566	31855673	127282990	30	11623											
CD36	948	broad.mit.edu	37	chr7	80295787	80295787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctattgggaaagtcactgcGacatgattaatggtacaggt	12	11	11	7	1	1	1	1	1	0	0	1	3	1	2	1	3	2	1	1	3	4	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:80295787G>A	ENST00000435819.1	+	11	1414	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CD36_ENST00000433696.2_Intron|CD36_ENST00000544133.1_Missense_Mutation_p.D244N|CD36_ENST00000394788.3_Missense_Mutation_p.D244N|CD36_ENST00000432207.1_Missense_Mutation_p.D244N|CD36_ENST00000534394.1_Missense_Mutation_p.D168N|CD36_ENST00000309881.7_Missense_Mutation_p.D244N|CD36_ENST00000538969.1_Missense_Mutation_p.D184N|CD36_ENST00000447544.2_Missense_Mutation_p.D244N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	244					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCACTGCGACATGATTAA	0.348																																						uc003uhc.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(730-732)Gac>Aac		Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.							157	147	150					7																	80295787		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80295787G>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.730G>A	7.37:g.80295787G>A	ENSP00000399421:p.Asp244Asn					CD36_uc011kgv.2_Missense_Mutation_p.D168N|CD36_uc003uhd.4_Missense_Mutation_p.D244N|CD36_uc003uhe.4_Missense_Mutation_p.D244N|CD36_uc003uhf.4_Missense_Mutation_p.D244N|CD36_uc003uhg.4_Missense_Mutation_p.D244N|CD36_uc003uhh.4_Missense_Mutation_p.D244N|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.D184N	p.D244N	NM_001127444	NP_001120916	P16671	CD36_HUMAN			10	1414	+			244					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.730G>A	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002307	0.35320	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000544133	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.01	5.01	0.66863	.	0.044013	0.85682	D	0.000000	T	0.59074	0.2167	N	0.20401	0.57	0.49915	D	0.999837	D	0.54047	0.964	P	0.51516	0.672	T	0.56902	-0.7902	9	.	.	.	-10.7638	11.7851	0.52037	0.0821:0.0:0.9179:0.0	.	244	P16671	CD36_HUMAN	N	244;244;168;244;244;244;244;184;244	ENSP00000399421:D244N;ENSP00000308165:D244N;ENSP00000431296:D168N;ENSP00000378268:D244N;ENSP00000415743:D244N;ENSP00000411411:D244N;ENSP00000392298:D244N;ENSP00000439543:D184N;ENSP00000441956:D244N	.	D	+	1	0	CD36	80133723	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.022000	0.70839	2.474000	0.83562	0.655000	0.94253	GAC		0.348	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		A	80295787	G	A	80295787	3	1	164	1	0	0	0	0	1	0	0	0	3007	1058	37	2	752	2	CD36	7	80295787	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	48440114	80295787	78842876	31	11624											
SLC26A4	5172	broad.mit.edu	37	chr7	107303838	107303838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggctgcttagtgacGtcatttcgggagttagtact	9	13	13	6	2	1	1	1	1	0	0	2	3	1	3	0	3	2	4	0	3	4	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:107303838G>A	ENST00000265715.3	+	3	486	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000440512.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	88					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTAGTGACGTCATTTCGGG	0.502									Pendred syndrome																													uc003vep.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(262-264)Gtc>Atc		Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.							163	133	143					7																	107303838		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107303838G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.262G>A	7.37:g.107303838G>A	ENSP00000265715:p.Val88Ile					LOC286002_uc003veo.3_5'Flank	p.V88I	NM_000441	NP_000432	O43511	S26A4_HUMAN			2	486	+			88					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.262G>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.001731	0.00431	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.90900	-2.75;-2.75	4.8	0.962	0.19643	.	0.495350	0.20760	N	0.086190	T	0.69744	0.3145	N	0.02202	-0.64	0.41986	D	0.99082	B	0.09022	0.002	B	0.11329	0.006	T	0.55231	-0.8173	10	0.08381	T	0.77	.	4.8351	0.13460	0.4832:0.2823:0.2345:0.0	.	88	O43511	S26A4_HUMAN	I	88	ENSP00000265715:V88I;ENSP00000394760:V88I	ENSP00000265715:V88I	V	+	1	0	SLC26A4	107091074	0.033000	0.19621	0.858000	0.33744	0.080000	0.17528	0.181000	0.16880	0.073000	0.16731	-0.383000	0.06682	GTC		0.502	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		A	107303838	G	A	107303838	3	1	164	1	0	0	0	0	1	0	0	0	14519	1145	40	1	268	1	SLC26A4	7	107303838	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	27008051	107303838	51834825	32	11625											
WDR91	29062	broad.mit.edu	37	chr7	134874110	134874110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataccaaacagccggatgAcgccatcagctgcccctgtg	10	6	10	15	2	1	1	1	1	0	0	1	2	1	2	5	1	5	2	5	1	2	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:134874110A>G	ENST00000354475.4	-	12	1785	c.1754T>C	c.(1753-1755)gTc>gCc	p.V585A	WDR91_ENST00000344400.5_Missense_Mutation_p.V585A|WDR91_ENST00000423565.1_Missense_Mutation_p.V550A	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	585										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCCGGATGACGCCATCAGC	0.488																																						uc003vsp.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1753-1755)gTc>gCc		Homo sapiens WD repeat domain 91 (WDR91), mRNA.							126	107	113					7																	134874110		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134874110A>G	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1754T>C	7.37:g.134874110A>G	ENSP00000346466:p.Val585Ala					WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.V174A	p.V585A	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			11	1816	-			585					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1754T>C	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	A	8.007	0.756680	0.15846	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.60171	0.21;0.21;0.21	4.62	-0.566	0.11767	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.843870	0.10986	N	0.612194	T	0.37758	0.1015	L	0.28458	0.855	0.25460	N	0.987926	B	0.09022	0.002	B	0.11329	0.006	T	0.24835	-1.0149	10	0.13853	T	0.58	-18.1074	6.295	0.21081	0.66:0.125:0.215:0.0	.	585	A4D1P6	WDR91_HUMAN	A	585;585;550	ENSP00000340877:V585A;ENSP00000346466:V585A;ENSP00000392555:V550A	ENSP00000340877:V585A	V	-	2	0	WDR91	134524650	0.998000	0.40836	0.197000	0.23402	0.449000	0.32228	4.091000	0.57700	0.028000	0.15324	0.533000	0.62120	GTC		0.488	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		G	134874110	A	G	134874110	3	3	164	1	0	0	0	0	1	0	0	0	17335	275	10	4	505	4	WDR91	7	134874110	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	27570272	134874110	24264553	33	11626											
OR2F2	135948	broad.mit.edu	37	chr7	143632553	143632553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctcctatgccacaagCgtagtcccccagctgctggc	7	9	10	15	1	1	0	0	0	1	0	3	1	2	0	4	1	4	3	4	1	3	2	rs377643542		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:143632553C>T	ENST00000408955.2	+	1	295	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATGCCACAAGCGTAGTCCCCC	0.517																																						uc011ktv.2																			0		p.T75R(1)|p.T75T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(226-228)agC>agT		Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.		C		0,4406		0,0,2203	236	229	231		228	1.6	1	7		231	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2F2	NM_001004685.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		76/318	143632553	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632553C>T		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.228C>T	7.37:g.143632553C>T							p.S76S	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			0	228	+	Melanoma(164;0.0903)		76					A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	c.228C>T	CCDS43666.1																																																																																				0.517	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			T	143632553	C	T	143632553	2	4	164	1	0	0	0	0	0	0	0	1	10997	767	27	1		1	OR2F2	7	143632553	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	8758443	143632553	15506110	34	11627											
NOBOX	135935	broad.mit.edu	37	chr7	144098293	144098293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccacagggcactgggttGtgtgtggcacgggctgagtt	6	9	17	9	1	0	1	0	1	0	0	0	2	0	1	1	4	0	5	1	4	0	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:144098293G>T	ENST00000467773.1	-	4	689	c.690C>A	c.(688-690)caC>caA	p.H230Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.H230Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.H145Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	230					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCACTGGGTTGTGTGTGGCAC	0.617																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(688-690)caC>caA		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							31	32	31					7																	144098293		1939	4131	6070	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098293G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.690C>A	7.37:g.144098293G>T	ENSP00000419457:p.His230Gln						p.H230Q	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	690	-	Melanoma(164;0.14)		230					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.690C>A		.	.	.	.	.	.	.	.	.	.	G	11.69	1.714672	0.30413	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.93076	-2.94;-3.16;-2.94	5.01	4.06	0.47325	.	.	.	.	.	D	0.84884	0.5571	N	0.14661	0.345	0.23168	N	0.998181	B	0.19331	0.035	B	0.14578	0.011	T	0.70414	-0.4878	9	0.17369	T	0.5	-14.1699	9.7202	0.40297	0.0:0.0:0.7789:0.2211	.	230	O60393	NOBOX_HUMAN	Q	230;230;145;19	ENSP00000419565:H230Q;ENSP00000419457:H230Q;ENSP00000223140:H145Q	ENSP00000223140:H145Q	H	-	3	2	NOBOX	143729226	0.995000	0.38212	0.978000	0.43139	0.669000	0.39330	1.015000	0.29963	2.602000	0.87976	0.555000	0.69702	CAC		0.617	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144098293	G	T	144098293	3	4	164	1	0	0	0	0	1	0	0	0	10512	1368	48	5	1317	5	NOBOX	7	144098293	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	465740	144098293	15040370	35	11628											
DOCK5	80005	broad.mit.edu	37	chr8	25246735	25246735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggaagacatcaagtcGtcccccaagcagtgtatcct	10	8	10	13	1	1	1	1	0	0	1	4	2	3	2	4	2	1	2	4	2	4	1	rs566691068		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:25246735G>A	ENST00000276440.7	+	41	4304	c.4260G>A	c.(4258-4260)tcG>tcA	p.S1420S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1420	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACATCAAGTCGTCCCCCAAGC	0.567													C|||	1	0.000199681	0	0.0014	5008	,	,		18092	0		0	False		,,,				2504	0				Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4258-4260)tcG>tcA		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							115	102	106					8																	25246735		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246735G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4260G>A	8.37:g.25246735G>A						DOCK5_uc003xek.3_Silent_p.S209S|DOCK5_uc003xei.3_Silent_p.S990S|DOCK5_uc003xej.3_Non-coding_Transcript	p.S1420S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	40	4397	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1420			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4260G>A	CCDS6047.1																																																																																				0.567	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25246735	G	A	25246735	2	1	164	1	0	0	0	0	0	0	0	1	4690	1132	40	1		1	DOCK5	8	25246735	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		25246735	121117287	36	11629											
BRF2	55290	broad.mit.edu	37	chr8	37704528	37704528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaggggccagttatgctgtCggcaggtgattaagacgcag	9	10	15	7	2	0	2	0	1	0	1	1	2	0	2	1	4	1	4	1	4	3	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:37704528C>T	ENST00000220659.6	-	3	500	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	BRF2_ENST00000520601.1_Missense_Mutation_p.R127Q|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GTTATGCTGTCGGCAGGTGAT	0.527																																						uc003xkk.3																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(379-381)cGa>cAa		Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.							214	192	200					8																	37704528		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704528C>T	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.380G>A	8.37:g.37704528C>T	ENSP00000220659:p.Arg127Gln						p.R127Q	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		2	510	-		Lung NSC(58;0.118)|all_lung(54;0.195)	127					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.380G>A	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	36	5.860472	0.97036	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.54	5.54	0.83059	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80567	-0.1325	9	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	127	Q9HAW0	BRF2_HUMAN	Q	127;104;127	.	ENSP00000220659:R127Q	R	-	2	0	BRF2	37823686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.153000	0.77428	2.615000	0.88500	0.555000	0.69702	CGA		0.527	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		T	37704528	C	T	37704528	3	4	164	1	0	0	0	0	1	0	0	0	1511	884	31	2	887	2	BRF2	8	37704528	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	12457793	37704528	108659494	37	11630											
SOX17	64321	broad.mit.edu	37	chr8	55371633	55371633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcaagtcgtggaaggCgctgacgctggcggagaagc	9	5	18	9	4	0	2	0	1	0	1	1	4	0	3	0	5	2	4	0	5	3	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:55371633C>T	ENST00000297316.4	+	2	527	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	108					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TCGTGGAAGGCGCTGACGCTG	0.701																																						uc003xsb.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(322-324)gCg>gTg		Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.							14	15	15					8																	55371633		2181	4254	6435	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371633C>T	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.323C>T	8.37:g.55371633C>T	ENSP00000297316:p.Ala108Val						p.A108V	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		1	527	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	108						Missense_Mutation	SNP	ENST00000297316.4	37	c.323C>T	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182183	0.94885	.	.	ENSG00000164736	ENST00000297316	D	0.98178	-4.77	4.03	4.03	0.46877	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.98039	1.0381	10	0.29301	T	0.29	.	16.3544	0.83230	0.0:1.0:0.0:0.0	.	108	Q9H6I2	SOX17_HUMAN	V	108	ENSP00000297316:A108V	ENSP00000297316:A108V	A	+	2	0	SOX17	55534186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.760000	0.68793	2.087000	0.62958	0.455000	0.32223	GCG		0.701	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			T	55371633	C	T	55371633	3	4	164	1	0	0	0	0	1	0	0	0	14947	768	27	1	329	1	SOX17	8	55371633	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	17667105	55371633	90992389	38	11631											
WDR67	93594	broad.mit.edu	37	chr8	124113069	124113069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggagtactaagtcaagAtggtattatgagatttatca	13	15	9	4	0	3	2	2	1	1	2	3	4	3	3	0	2	1	2	0	2	6	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:124113069A>G	ENST00000287380.1	+	7	944	c.854A>G	c.(853-855)gAt>gGt	p.D285G	TBC1D31_ENST00000327098.5_Missense_Mutation_p.D285G|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D285G|TBC1D31_ENST00000521676.1_Missense_Mutation_p.D180G|TBC1D31_ENST00000378080.2_Missense_Mutation_p.D180G|TBC1D31_ENST00000518805.1_5'Flank|TBC1D31_ENST00000522420.1_Missense_Mutation_p.D180G	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	285						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTAAGTCAAGATGGTATTATG	0.353																																						uc003ypp.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(853-855)gAt>gGt		Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.							87	86	86					8																	124113069		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124113069A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.854A>G	8.37:g.124113069A>G	ENSP00000287380:p.Asp285Gly					WDR67_uc011lig.2_Missense_Mutation_p.D285G|WDR67_uc011lih.2_Missense_Mutation_p.D175G|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.3_Non-coding_Transcript	p.D285G	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	944	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		285					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.854A>G	CCDS6338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.290498|4.290498	0.80914|0.80914	.|.	.|.	ENSG00000156787|ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000543408;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080|ENST00000521914	T;T;T;T;T;T|.	0.75050|.	-0.9;0.8;0.8;0.89;0.89;0.89|.	5.26|5.26	5.26|5.26	0.73747|0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.054101|.	0.64402|.	D|.	0.000001|.	T|T	0.78464|0.78464	0.4287|0.4287	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.97;0.994;1.0|.	P;P;D|.	0.87578|.	0.759;0.899;0.998|.	T|T	0.81300|0.81300	-0.0995|-0.0995	10|5	0.87932|.	D|.	0|.	-15.8465|-15.8465	15.1814|15.1814	0.72962|0.72962	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	285;285;285|.	B7ZL19;Q96DN5;Q3KRB0|.	.;WDR67_HUMAN;.|.	G|V	285;285;164;285;180;180;180|89	ENSP00000287380:D285G;ENSP00000308358:D285G;ENSP00000312701:D285G;ENSP00000429334:D180G;ENSP00000430628:D180G;ENSP00000367320:D180G|.	ENSP00000287380:D285G|.	D|M	+|+	2|1	0|0	WDR67|WDR67	124182250|124182250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	8.514000|8.514000	0.90545|0.90545	1.995000|1.995000	0.58328|0.58328	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.353	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		G	124113069	A	G	124113069	3	3	164	1	0	0	0	0	1	0	0	0	17315	333	12	4	880	4	WDR67	8	124113069	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	68741436	124113069	22250953	39	11632											
ADCY8	114	broad.mit.edu	37	chr8	131896832	131896832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgctccaggctggagtctTtaaacatcagtgagaatggc	10	11	12	8	0	2	1	1	1	1	1	3	3	3	2	1	3	2	2	1	3	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:131896832T>G	ENST00000286355.5	-	8	4179	c.2087A>C	c.(2086-2088)aAa>aCa	p.K696T	ADCY8_ENST00000377928.3_Missense_Mutation_p.K696T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	696					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGGAGTCTTTAAACATCAG	0.468										HNSCC(32;0.087)																												uc003ytd.4																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2086-2088)aAa>aCa		Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.							118	116	117					8																	131896832		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896832T>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2087A>C	8.37:g.131896832T>G	ENSP00000286355:p.Lys696Thr	HNSCC(32;0.087)				ADCY8_uc010mds.3_Missense_Mutation_p.K696T	p.K696T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	2343	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		696						Missense_Mutation	SNP	ENST00000286355.5	37	c.2087A>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604975	0.66445	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78003	0.76;-1.14	5.98	5.98	0.97165	.	0.042999	0.85682	D	0.000000	T	0.75413	0.3846	L	0.41492	1.28	0.35681	D	0.814098	P;B	0.38711	0.643;0.276	B;B	0.42995	0.404;0.1	T	0.81967	-0.0690	10	0.52906	T	0.07	.	15.7097	0.77615	0.0:0.0:0.0:1.0	.	696;696	E7EVL1;P40145	.;ADCY8_HUMAN	T	696	ENSP00000286355:K696T;ENSP00000367161:K696T	ENSP00000286355:K696T	K	-	2	0	ADCY8	131966014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.545000	0.67237	2.307000	0.77673	0.529000	0.55759	AAA		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			G	131896832	T	G	131896832	3	3	164	1	0	0	0	0	1	0	0	0	300	1841	64	5	1712	5	ADCY8	8	131896832	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	7783763	131896832	14467190	40	11633											
KIF24	347240	broad.mit.edu	37	chr9	34257897	34257897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggagctctgaattcGttttggagaggagtttccag	8	11	14	8	1	1	2	0	1	1	1	3	5	2	4	2	4	1	3	2	4	1	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:34257897G>A	ENST00000402558.2	-	10	1732	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KIF24_ENST00000345050.2_Nonsense_Mutation_p.R436*|KIF24_ENST00000379166.2_Nonsense_Mutation_p.R570*|KIF24_ENST00000379174.3_Nonsense_Mutation_p.R436*			Q5T7B8	KIF24_HUMAN	kinesin family member 24	570					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTGAATTCGTTTTGGAGAG	0.448																																						uc003zua.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1708-1710)Cga>Tga		Homo sapiens kinesin family member 24 (KIF24), mRNA.							104	112	109					9																	34257897		2203	4300	6503	SO:0001587	stop_gained	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257897G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1708C>T	9.37:g.34257897G>A	ENSP00000384433:p.Arg570*					KIF24_uc010mkb.3_Intron	p.R570*	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		10	1828	-			570					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Nonsense_Mutation	SNP	ENST00000402558.2	37	c.1708C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	38	6.795603	0.97845	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	.	.	.	5.53	5.53	0.82687	.	0.000000	0.34025	N	0.004326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4658	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	570;436;570;436;570	.	ENSP00000340179:R436X	R	-	1	2	KIF24	34247897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.439000	0.44846	2.599000	0.87857	0.655000	0.94253	CGA		0.448	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			A	34257897	G	A	34257897	4	1	164	1	0	0	0	0	0	1	0	0	8292	1153	40	1	2410	1	KIF24	9	34257897	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		34257897	106955534	41	11634											
COL15A1	1306	broad.mit.edu	37	chr9	101810265	101810265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaagggtaccaaaggagatCcaggggtcattatgcaggtg	12	8	14	7	0	2	1	2	0	0	1	3	2	3	1	2	5	2	2	2	5	4	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:101810265C>A	ENST00000375001.3	+	28	3199	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	926	Collagen-like 4.|Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAAAGGAGATCCAGGGGTCAT	0.617																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2776-2778)Cca>Aca		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							58	49	52					9																	101810265		2201	4295	6496	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101810265C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2776C>A	9.37:g.101810265C>A	ENSP00000364140:p.Pro926Thr						p.P926T	NM_001855	NP_001846	P39059	COFA1_HUMAN			27	2982	+		Acute lymphoblastic leukemia(62;0.0562)	926			Triple-helical region 5 (COL5).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2776C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	7.601	0.672708	0.14776	.	.	ENSG00000204291	ENST00000375001	D	0.92348	-3.02	5.86	4.95	0.65309	C-type lectin fold (1);	0.547841	0.18456	N	0.140684	D	0.87908	0.6296	L	0.45470	1.425	0.29155	N	0.878142	B	0.22604	0.072	B	0.23018	0.043	T	0.77096	-0.2714	10	0.14252	T	0.57	-2.8874	12.209	0.54369	0.1704:0.8296:0.0:0.0	.	926	P39059	COFA1_HUMAN	T	926	ENSP00000364140:P926T	ENSP00000364140:P926T	P	+	1	0	COL15A1	100850086	0.992000	0.36948	0.969000	0.41365	0.292000	0.27327	1.555000	0.36277	1.443000	0.47586	0.591000	0.81541	CCA		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101810265	C	A	101810265	3	1	164	1	0	0	0	0	1	0	0	0	3672	855	30	5	2886	5	COL15A1	9	101810265	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	67552368	101810265	39403166	42	11635											
C9orf86	55684	broad.mit.edu	37	chr9	139726289	139726289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgccggacgacgtgcGtgacttcatcgacaacctgg	8	8	11	14	5	1	1	1	1	0	0	3	4	2	2	3	2	3	0	3	2	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:139726289G>A	ENST00000311502.7	+	6	811	c.575G>A	c.(574-576)cGt>cAt	p.R192H	RABL6_ENST00000357466.2_Missense_Mutation_p.R192H|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Missense_Mutation_p.R192H|MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000432842.2_Missense_Mutation_p.R154H|RABL6_ENST00000371663.4_Missense_Mutation_p.R192H|RABL6_ENST00000371675.3_Missense_Mutation_p.R77H			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	192	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GACGACGTGCGTGACTTCATC	0.677																																						uc004cjj.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(574-576)cGt>cAt		Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.							48	52	51					9																	139726289		2124	4225	6349	SO:0001583	missense	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139726289G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.575G>A	9.37:g.139726289G>A	ENSP00000311134:p.Arg192His					C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.3_Missense_Mutation_p.R192H|C9orf86_uc004cji.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	p.R192H	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	5	1032	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	192			Small GTPase-like.		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.575G>A	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210729	0.95069	.	.	ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675	T;T;T;T;T	0.67523	-0.27;-0.25;0.77;0.78;-0.26	4.33	4.33	0.51752	.	0.000000	0.85682	U	0.000000	T	0.73682	0.3618	L	0.34521	1.04	0.80722	D	1	B;B;D;D;D	0.89917	0.345;0.082;1.0;1.0;0.998	B;B;D;D;P	0.87578	0.026;0.01;0.998;0.996;0.793	T	0.75966	-0.3131	10	0.51188	T	0.08	-11.7716	16.1566	0.81673	0.0:0.0:1.0:0.0	.	192;192;192;192;192	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.;.;.;PARF_HUMAN;.	H	192;192;192;192;192;154;77	ENSP00000360727:R192H;ENSP00000311134:R192H;ENSP00000350056:R192H;ENSP00000414081:R154H;ENSP00000360740:R77H	ENSP00000311134:R192H	R	+	2	0	C9orf86	138846110	1.000000	0.71417	0.892000	0.35008	0.866000	0.49608	9.207000	0.95064	2.118000	0.64928	0.313000	0.20887	CGT		0.677	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		A	139726289	G	A	139726289	3	1	164	1	0	0	0	0	1	0	0	0	2502	1145	40	1	597	1	C9orf86	9	139726289	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	37916024	139726289	1487142	43	11636											
OR51A7	119687	broad.mit.edu	37	chr11	4929295	4929295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattgcatctttggcagaGaggcttaaggccctaaatac	12	10	10	9	0	1	1	0	0	1	1	1	2	1	1	1	3	3	4	1	3	4	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:4929295G>T	ENST00000359350.4	+	1	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTGGCAGAGAGGCTTAAGG	0.478																																						uc010qyq.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(694-696)gaG>gaT		Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.							235	202	213					11																	4929295		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929295G>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.696G>T	11.37:g.4929295G>T	ENSP00000352305:p.Glu232Asp						p.E232D	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	696	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	232					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.696G>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004987	0.35415	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.37058	1.22	4.87	-0.224	0.13115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000214	T	0.46014	0.1371	M	0.63169	1.94	0.09310	N	1	P	0.52463	0.953	P	0.59643	0.861	T	0.35251	-0.9796	10	0.62326	D	0.03	.	7.6505	0.28346	0.4657:0.0:0.5343:0.0	.	232	Q8NH64	O51A7_HUMAN	D	232;232;221	ENSP00000352305:E232D	ENSP00000352305:E232D	E	+	3	2	OR51A7	4885871	0.000000	0.05858	0.673000	0.29887	0.298000	0.27526	-0.592000	0.05747	-0.207000	0.10187	0.655000	0.94253	GAG		0.478	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		T	4929295	G	T	4929295	3	4	164	1	0	0	0	0	1	0	0	0	11088	933	33	5	698	5	OR51A7	11	4929295	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		4929295	130077221	44	11637											
OR52B6	340980	broad.mit.edu	37	chr11	5602633	5602633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagcttcatcattatgtTtccatccatctttctccttg	7	17	3	14	0	4	0	2	0	2	0	7	0	6	0	4	0	1	2	4	0	1	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:5602633T>A	ENST00000345043.2	+	1	527	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATTATGTTTCCATCCATC	0.498																																						uc010qzi.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(526-528)tTt>tAt		Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.							191	200	197					11																	5602633		2198	4297	6495	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602633T>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.527T>A	11.37:g.5602633T>A	ENSP00000341581:p.Phe176Tyr					HBG1_uc001mak.1_Intron	p.F176Y	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	527	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	176					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.527T>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112487	0.56398	.	.	ENSG00000187747	ENST00000345043	T	0.00107	8.72	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	U	0.001044	T	0.00552	0.0018	M	0.93328	3.405	0.09310	N	1	D	0.69078	0.997	D	0.66351	0.943	T	0.29941	-0.9995	10	0.59425	D	0.04	.	8.5678	0.33550	0.0:0.0862:0.0:0.9138	.	176	Q8NGF0	O52B6_HUMAN	Y	176	ENSP00000341581:F176Y	ENSP00000341581:F176Y	F	+	2	0	OR52B6	5559209	0.002000	0.14202	0.914000	0.36105	0.851000	0.48451	1.149000	0.31626	2.159000	0.67721	0.528000	0.53228	TTT		0.498	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		A	5602633	T	A	5602633	3	1	164	1	0	0	0	0	1	0	0	0	11113	1841	64	5	529	5	OR52B6	11	5602633	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	673338	5602633	129403883	45	11638											
PIK3C2A	5286	broad.mit.edu	37	chr11	17111388	17111388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaagaaaaaattctccCgcagagattctgcactgagt	14	8	7	12	1	2	3	0	1	2	2	3	4	2	3	2	0	1	2	2	0	4	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:17111388C>T	ENST00000265970.7	-	32	4957	c.4958G>A	c.(4957-4959)cGg>cAg	p.R1653Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1273Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1653	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AAAATTCTCCCGCAGAGATTC	0.413																																						uc001mmq.4																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4957-4959)cGg>cAg		Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	Phosphatidylserine(DB00144)						177	191	187					11																	17111388		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17111388C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4958G>A	11.37:g.17111388C>T	ENSP00000265970:p.Arg1653Gln					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	p.R1653Q	NM_002645	NP_002636	O00443	P3C2A_HUMAN			31	5023	-			1653			C2.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4958G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068243	0.55539	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.08102	3.13;3.13	5.58	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.19257	-1.0311	10	0.19590	T	0.45	-5.8239	14.985	0.71342	0.0:0.9311:0.0:0.0689	.	1653	O00443	P3C2A_HUMAN	Q	1653;1273	ENSP00000265970:R1653Q;ENSP00000438687:R1273Q	ENSP00000265970:R1653Q	R	-	2	0	PIK3C2A	17067964	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.014000	0.70784	1.500000	0.48636	0.655000	0.94253	CGG		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		T	17111388	C	T	17111388	3	4	164	1	0	0	0	0	1	0	0	0	11909	652	23	2	106	2	PIK3C2A	11	17111388	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	11508755	17111388	117895128	46	11639											
MS4A14	84689	broad.mit.edu	37	chr11	60184370	60184370	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaactgttatgccaagaTtcagaatcccaaatacagca	17	8	5	11	0	1	2	1	0	0	2	2	2	2	2	3	0	4	2	3	0	7	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:60184370T>C	ENST00000300187.6	+	5	2206	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	MS4A14_ENST00000531787.1_Silent_p.D531D|MS4A14_ENST00000531783.1_Silent_p.D676D|MS4A14_ENST00000395005.2_Silent_p.D626D	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TATGCCAAGATTCAGAATCCC	0.473																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1927-1929)gaT>gaC		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							85	86	86					11																	60184370		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60184370T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1929T>C	11.37:g.60184370T>C						MS4A14_uc001npi.3_Silent_p.D531D|MS4A14_uc001npn.3_Silent_p.D381D|MS4A14_uc001npk.3_Silent_p.D626D|MS4A14_uc001npl.3_Silent_p.D381D|MS4A14_uc001npm.3_Silent_p.D381D	p.D643D	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	2494	+			643			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1929T>C	CCDS31569.1																																																																																				0.473	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			C	60184370	T	C	60184370	2	2	164	1	0	0	0	0	0	0	0	1	9858	1490	52	4		4	MS4A14	11	60184370	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	43072982	60184370	74822146	47	11640											
RBM4	5936	broad.mit.edu	37	chr11	66411465	66411465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctacagccccagtcccCactgttggagagggctacgg	7	6	13	15	3	0	1	0	0	0	1	1	2	1	1	4	3	3	3	4	3	2	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:66411465C>T	ENST00000409406.1	+	2	1734	c.957C>T	c.(955-957)ccC>ccT	p.P319P	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P294P|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Silent_p.P319P|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Silent_p.P294P|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_Silent_p.P319P|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Silent_p.P319P			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	319	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CCCCAGTCCCCACTGTTGGAG	0.622																																						uc009yrj.3																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(955-957)ccC>ccT		Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.							48	54	52					11																	66411465		2105	4240	6345	SO:0001819	synonymous_variant	5936				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66411465C>T	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.957C>T	11.37:g.66411465C>T						RBM14_uc009yrk.3_Silent_p.P294P|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.P319P|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.P319P	p.P319P	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN			2	1445	+			510			Ala-rich.|TRBP-interacting domain.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.957C>T	CCDS41676.1																																																																																				0.622	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		T	66411465	C	T	66411465	2	4	164	1	0	0	0	0	0	0	0	1	13134	581	21	3		3	RBM4	11	66411465	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	6227095	66411465	68595051	48	11641											
POU2AF1	5450	broad.mit.edu	37	chr11	111229596	111229596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctccttcacacggaCgccctggtatggccgggccg	5	7	13	16	4	1	0	1	0	0	0	2	1	2	1	4	5	0	2	4	5	1	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:111229596C>T	ENST00000393067.3	-	2	578	c.64G>A	c.(64-66)Gtc>Atc	p.V22I		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	22					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACACGGACGCCCTGGTAT	0.647			T	BCL6	NHL																																	uc001plg.4				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(64-66)Gtc>Atc		Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.							65	55	58					11																	111229596		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111229596C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.64G>A	11.37:g.111229596C>T	ENSP00000376786:p.Val22Ile						p.V22I	NM_006235	NP_006226	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	1	319	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	22					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.64G>A	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910549	0.92107	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.38722	1.12;1.12	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000004	T	0.64216	0.2578	M	0.65498	2.005	0.44395	D	0.997309	D	0.76494	0.999	D	0.79108	0.992	T	0.68326	-0.5438	10	0.87932	D	0	-2.6953	17.9036	0.88912	0.0:1.0:0.0:0.0	.	22	Q16633	OBF1_HUMAN	I	22;24	ENSP00000376786:V22I;ENSP00000433527:V24I	ENSP00000376786:V22I	V	-	1	0	POU2AF1	110734806	1.000000	0.71417	0.890000	0.34922	0.936000	0.57629	5.745000	0.68672	2.331000	0.79229	0.305000	0.20034	GTC		0.647	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		T	111229596	C	T	111229596	3	4	164	1	0	0	0	0	1	0	0	0	12270	536	19	1	722	1	POU2AF1	11	111229596	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	44818131	111229596	23776920	49	11642											
CD3E	916	broad.mit.edu	37	chr11	118183512	118183512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaattggagcaaagtggtTattatgtctgctaccccaga	12	11	10	8	0	1	2	0	0	1	2	1	3	1	3	2	2	3	3	2	2	5	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:118183512T>C	ENST00000361763.4	+	6	574	c.283T>C	c.(283-285)Tat>Cat	p.Y95H	CD3E_ENST00000528600.1_Missense_Mutation_p.Y89H	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	95	Ig-like.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCAAAGTGGTTATTATGTCTG	0.443																																						uc001psq.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(283-285)Tat>Cat		Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	Muromonab(DB00075)						123	118	120					11																	118183512		2200	4296	6496	SO:0001583	missense	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118183512T>C	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.283T>C	11.37:g.118183512T>C	ENSP00000354566:p.Tyr95His					CD3E_uc010rya.2_Missense_Mutation_p.Y95H	p.Y95H	NM_000733	NP_000724	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	5	539	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	95			Ig-like.		A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	c.283T>C	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396008	0.25205	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.21932	1.98;1.98	5.25	0.355	0.16069	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	1.475880	0.03580	N	0.230018	T	0.19167	0.0460	L	0.43152	1.355	0.09310	N	1	P;B	0.44380	0.834;0.095	B;B	0.41666	0.363;0.034	T	0.17501	-1.0367	10	0.35671	T	0.21	.	4.1967	0.10447	0.0:0.2652:0.1695:0.5653	.	95;95	B4DVW0;P07766	.;CD3E_HUMAN	H	95;89	ENSP00000354566:Y95H;ENSP00000433975:Y89H	ENSP00000354566:Y95H	Y	+	1	0	CD3E	117688722	0.008000	0.16893	0.073000	0.20177	0.187000	0.23431	0.419000	0.21247	0.166000	0.19597	-0.313000	0.08912	TAT		0.443	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		C	118183512	T	C	118183512	3	2	164	1	0	0	0	0	1	0	0	0	3011	1754	61	4	301	4	CD3E	11	118183512	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	6953916	118183512	16823004	50	11643											
MFRP	83552	broad.mit.edu	37	chr11	119215663	119215663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagagacgaagaccaccagGaggtggctggcattggtgtt	10	8	15	8	1	1	2	1	0	0	2	1	5	1	3	2	5	0	3	2	5	1	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:119215663G>A	ENST00000530681.1	-	6	837	c.693C>T	c.(691-693)ctC>ctT	p.L231L	MFRP_ENST00000360167.4_Silent_p.L231L|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Silent_p.L231L|MFRP_ENST00000449574.2_Silent_p.L231L|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	231	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGACCACCAGGAGGTGGCTGG	0.617																																						uc010rzg.1																			0				endometrium(1)|lung(2)	3						c.(691-693)ctC>ctT		Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.							34	26	29					11																	119215663		2197	4291	6488	SO:0001819	synonymous_variant	83552				embryo development	integral to membrane		g.chr11:119215663G>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.693C>T	11.37:g.119215663G>A						C1QTNF5_uc001pwj.2_5'UTR	p.L231L			Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	853	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	231			CUB 1.		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	c.693C>T	CCDS8421.1																																																																																				0.617	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		A	119215663	G	A	119215663	2	1	164	1	0	0	0	0	0	0	0	1	9526	1161	41	3		3	MFRP	11	119215663	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	1032151	119215663	15790853	51	11644											
OR10G7	390265	broad.mit.edu	37	chr11	123909127	123909127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaaagatgaccatctcGttggctgaggtgtctgcaca	10	11	10	10	1	3	3	1	2	2	1	4	3	3	3	1	2	1	3	1	2	1	2	rs386758387|rs147011748	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:123909127G>A	ENST00000330487.5	-	1	590	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N194N(1)|p.N194K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACCATCTCGTTGGCTGAGG	0.537																																						uc001pzq.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.N194N(2)|p.N194K(2)	large_intestine(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(580-582)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.		G		0,4402		0,0,2201	252	234	240		582	-6.8	0	11	dbSNP_134	240	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous	OR10G7	NM_001004463.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		194/312	123909127	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909127G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.582C>T	11.37:g.123909127G>A							p.N194N	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	582	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	194					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.582C>T	CCDS31705.1																																																																																				0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909127	G	A	123909127	2	1	164	1	0	0	0	0	0	0	0	1	10902	1136	40	1		1	OR10G7	11	123909127	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	4693464	123909127	11097389	52	11645											
ACSM4	341392	broad.mit.edu	37	chr12	7456944	7456944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccatgaagatttttttccGctaccagacatttagattca	13	14	5	9	1	1	4	1	1	0	3	2	4	2	4	3	0	2	1	3	0	4	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:7456944G>A	ENST00000399422.4	+	1	65	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	6					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ATTTTTTTCCGCTACCAGACA	0.468																																						uc001qsx.1																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(16-18)cGc>cAc		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.							146	140	142					12																	7456944		1881	4115	5996	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456944G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.17G>A	12.37:g.7456944G>A	ENSP00000382349:p.Arg6His						p.R6H	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			0	17	+			6					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.17G>A	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710651	0.30322	.	.	ENSG00000215009	ENST00000399422	T	0.47528	0.84	4.01	-3.53	0.04667	.	.	.	.	.	T	0.32704	0.0838	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23190	-1.0195	9	0.34782	T	0.22	-12.2911	10.4873	0.44731	0.5549:0.0:0.4451:0.0	.	6	P0C7M7	ACSM4_HUMAN	H	6	ENSP00000382349:R6H	ENSP00000382349:R6H	R	+	2	0	ACSM4	7348211	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-0.278000	0.08490	-0.653000	0.05401	-0.734000	0.03567	CGC		0.468	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		A	7456944	G	A	7456944	3	1	164	1	0	0	0	0	1	0	0	0	186	1087	38	1	19	1	ACSM4	12	7456944	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		7456944	126394951	53	11646											
SLCO1B3	28234	broad.mit.edu	37	chr12	21036410	21036410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaacagaaattactcagCacacttgggtgaatgcccaa	15	7	8	11	0	1	3	1	1	0	2	1	3	1	3	2	1	4	1	2	1	5	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21036410C>T	ENST00000381545.3	+	13	1775	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.A519V|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.A519V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A519V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	519					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AATTACTCAGCACACTTGGGT	0.338																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1555-1557)gCa>gTa		Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							94	95	95					12																	21036410		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21036410C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1556C>T	12.37:g.21036410C>T	ENSP00000370956:p.Ala519Val					SLCO1B3_uc001rek.3_Missense_Mutation_p.A519V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A519V|SLCO1B3_uc010sim.2_Intron	p.A519V			Q9NPD5	SO1B3_HUMAN			10	1621	+	Esophageal squamous(101;0.149)		519					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1556C>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.718459	0.30503	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	3.58	0.691	0.18045	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.355926	0.30859	N	0.008727	T	0.44329	0.1288	L	0.55213	1.73	0.09310	N	1	P;P;P	0.49185	0.913;0.92;0.698	B;P;P	0.54924	0.429;0.764;0.764	T	0.29058	-1.0024	10	0.30854	T	0.27	.	6.5545	0.22452	0.0:0.6673:0.0:0.3327	.	519;519;519	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	V	519;519;519;343;519	ENSP00000261196:A519V;ENSP00000370956:A519V;ENSP00000451758:A519V;ENSP00000443225:A343V;ENSP00000441269:A519V	ENSP00000441269:A519V	A	+	2	0	SLCO1B3;RP11-545J16.1	20927677	0.036000	0.19791	0.000000	0.03702	0.014000	0.08584	0.204000	0.17335	-0.053000	0.13289	0.313000	0.20887	GCA		0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		T	21036410	C	T	21036410	3	4	164	1	0	0	0	0	1	0	0	0	14724	710	25	3	1598	3	SLCO1B3	12	21036410	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	13579466	21036410	112815485	54	11647											
ABCC9	10060	broad.mit.edu	37	chr12	21997448	21997448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattagtatcagctgaaaagCgattgagaatcagtcccagg	14	10	10	7	1	2	2	2	2	0	1	3	4	3	2	1	1	2	2	1	1	6	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21997448C>T	ENST00000261201.4	-	26	3283	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1095H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1059H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1095	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGCTGAAAAGCGATTGAGAAT	0.353																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3283-3285)cGc>cAc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						104	111	109					12																	21997448		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997448C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3284G>A	12.37:g.21997448C>T	ENSP00000261201:p.Arg1095His					ABCC9_uc001rfi.1_Missense_Mutation_p.R1095H	p.R1095H	NM_020297	NP_064693	O60706	ABCC9_HUMAN			25	3304	-			1095			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3284G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976649	0.92982	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99222	1.0879	10	0.87932	D	0	-9.942	18.6123	0.91290	0.0:1.0:0.0:0.0	.	1095;1095	O60706;O60706-2	ABCC9_HUMAN;.	H	1095;722;1095;1059	ENSP00000261200:R1095H;ENSP00000440521:R722H;ENSP00000261201:R1095H;ENSP00000261202:R1059H	ENSP00000261200:R1095H	R	-	2	0	ABCC9	21888715	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.183000	0.77697	2.634000	0.89283	0.650000	0.86243	CGC		0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21997448	C	T	21997448	3	4	164	1	0	0	0	0	1	0	0	0	59	768	27	1	1559	1	ABCC9	12	21997448	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	961038	21997448	111854447	55	11648											
STK38L	23012	broad.mit.edu	37	chr12	27467499	27467499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaacacagttctacAtttcagagactgttctggca	14	10	9	8	0	3	2	1	0	2	2	3	4	3	3	0	2	2	3	0	2	3	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:27467499A>G	ENST00000389032.3	+	7	749	c.580A>G	c.(580-582)Att>Gtt	p.I194V	STK38L_ENST00000539577.1_Missense_Mutation_p.I101V	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACAGTTCTACATTTCAGAGAC	0.378																																						uc001rhr.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(580-582)Att>Gtt		Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.							118	106	110					12																	27467499		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27467499A>G	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.580A>G	12.37:g.27467499A>G	ENSP00000373684:p.Ile194Val					STK38L_uc010sjm.2_Missense_Mutation_p.I101V|STK38L_uc010sjn.2_5'UTR	p.I194V	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			6	779	+	Colorectal(261;0.0847)		194			Protein kinase.			Missense_Mutation	SNP	ENST00000389032.3	37	c.580A>G	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836321	0.50951	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	T;T;T	0.64618	-0.11;-0.11;-0.11	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053228	0.64402	N	0.000001	T	0.54565	0.1866	L	0.28608	0.87	0.80722	D	1	B;B	0.24368	0.102;0.06	B;B	0.34385	0.116;0.181	T	0.52764	-0.8532	10	0.33940	T	0.23	.	14.6964	0.69124	1.0:0.0:0.0:0.0	.	101;194	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	V	194;153;101	ENSP00000373684:I194V;ENSP00000439457:I153V;ENSP00000446386:I101V	ENSP00000373684:I194V	I	+	1	0	STK38L	27358766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.999000	0.63934	2.121000	0.65114	0.460000	0.39030	ATT		0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		G	27467499	A	G	27467499	3	3	164	1	0	0	0	0	1	0	0	0	15303	217	8	4	602	4	STK38L	12	27467499	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	5470051	27467499	106384396	56	11649											
CACNB3	784	broad.mit.edu	37	chr12	49218455	49218455	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctttcttctcaggagAtctgggaacccttccagcct	6	12	7	16	0	3	1	1	0	3	1	6	3	5	2	5	2	2	0	5	2	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:49218455A>G	ENST00000301050.2	+	5	610	c.411A>G	c.(409-411)agA>agG	p.R137R	CACNB3_ENST00000547392.1_Silent_p.R137R|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000540990.1_Silent_p.R124R|CACNB3_ENST00000547230.1_Silent_p.R96R|CACNB3_ENST00000536187.2_Silent_p.R136R	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	137					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTCAGGAGATCTGGGAACC	0.483																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(409-411)agA>agG		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						48	50	49					12																	49218455		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49218455A>G		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.411A>G	12.37:g.49218455A>G						CACNB3_uc010slx.2_Silent_p.R124R|CACNB3_uc010sly.2_Silent_p.R124R|CACNB3_uc010slz.2_Silent_p.R136R|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Silent_p.R96R	p.R137R	NM_000725	NP_000716	P54284	CACB3_HUMAN			4	870	+			137					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.411A>G	CCDS8769.1																																																																																				0.483	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			G	49218455	A	G	49218455	2	3	164	1	0	0	0	0	0	0	0	1	2554	330	12	4		4	CACNB3	12	49218455	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	21750956	49218455	84633440	57	11650											
RNF17	56163	broad.mit.edu	37	chr13	25444863	25444863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgcttcctcctctgaCggattttagaacaggtatac	10	11	10	10	2	1	3	0	1	1	2	3	4	3	4	2	3	2	2	2	3	4	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:25444863C>T	ENST00000255324.5	+	32	4485	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	RNF17_ENST00000381921.1_Missense_Mutation_p.T1436M|RNF17_ENST00000339524.3_Missense_Mutation_p.T488M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1478					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTCCTCTGACGGATTTTAGA	0.423																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4432-4434)aCg>aTg		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							70	63	66					13																	25444863		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25444863C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4433C>T	13.37:g.25444863C>T	ENSP00000255324:p.Thr1478Met					RNF17_uc010tde.2_Missense_Mutation_p.T1474M|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1417M|RNF17_uc010aac.3_Missense_Mutation_p.T670M|RNF17_uc010aad.3_Missense_Mutation_p.T488M	p.T1478M	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	31	4474	+		Lung SC(185;0.0225)|Breast(139;0.077)	1478					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4433C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090489	0.36855	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.79	4.96	0.65561	Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000011	T	0.31765	0.0807	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.978;1.0	D;D;B;D	0.97110	1.0;0.992;0.395;0.999	T	0.03166	-1.1065	10	0.54805	T	0.06	-8.2994	12.0699	0.53609	0.0:0.9194:0.0:0.0806	.	1474;488;1472;1478	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	M	1478;1436;802;488	ENSP00000255324:T1478M;ENSP00000371346:T1436M;ENSP00000388892:T802M;ENSP00000344776:T488M	ENSP00000255324:T1478M	T	+	2	0	RNF17	24342863	1.000000	0.71417	0.988000	0.46212	0.079000	0.17450	4.654000	0.61469	1.443000	0.47586	-0.229000	0.12294	ACG		0.423	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25444863	C	T	25444863	3	4	164	1	0	0	0	0	1	0	0	0	13461	536	19	1	4559	1	RNF17	13	25444863	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		25444863	89725015	58	11651											
PCDH20	64881	broad.mit.edu	37	chr13	61985634	61985634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttgtggttctttctcCtctatattaatctctggttc	6	20	7	8	0	4	1	0	0	4	1	7	2	4	1	1	2	0	2	1	2	3	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:61985634C>T	ENST00000409186.1	-	5	4703	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	PCDH20_ENST00000409204.4_Silent_p.E866E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	866					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTTTCTCCTCTATATTAA	0.393																																						uc001vid.4																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2596-2598)gaG>gaA		Homo sapiens protocadherin 20 (PCDH20), mRNA.							78	72	74					13																	61985634		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985634C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2598G>A	13.37:g.61985634C>T						PCDH20_uc010thj.2_Silent_p.E866E	p.E866E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2962	-		Breast(118;0.195)|Prostate(109;0.229)	839					A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2598G>A	CCDS9442.2																																																																																				0.393	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		T	61985634	C	T	61985634	2	4	164	1	0	0	0	0	0	0	0	1	11515	680	24	3		3	PCDH20	13	61985634	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	36540771	61985634	53184244	59	11652											
OR4K17	390436	broad.mit.edu	37	chr14	20586156	20586156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccatttgctgtgaacttGcccttttgtggtcccaatgt	7	16	8	10	0	0	1	0	1	0	0	1	1	1	1	3	1	4	1	3	1	3	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:20586156G>A	ENST00000315543.4	+	1	591	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTGAACTTGCCCTTTTGTG	0.428																																						uc001vwo.1																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(589-591)ttG>ttA		Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.							278	241	254					14																	20586156		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586156G>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.591G>A	14.37:g.20586156G>A							p.L197L	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	591	+	all_cancers(95;0.00108)		169					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.591G>A	CCDS32030.1																																																																																				0.428	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			A	20586156	G	A	20586156	2	1	164	1	0	0	0	0	0	0	0	1	11071	1310	46	3		3	OR4K17	14	20586156	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		20586156	86763384	60	11653											
CLEC14A	161198	broad.mit.edu	37	chr14	38724256	38724256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctctcccagcttctcGtcgaccctgattggccatgt	4	13	10	14	2	2	1	0	1	2	0	6	2	3	1	3	2	1	1	3	2	0	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:38724256G>T	ENST00000342213.2	-	1	1318	c.972C>A	c.(970-972)gaC>gaA	p.D324E		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	324						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGCTTCTCGTCGACCCTGA	0.602																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(970-972)gaC>gaA		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							87	80	82					14																	38724256		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724256G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.972C>A	14.37:g.38724256G>T	ENSP00000353013:p.Asp324Glu						p.D324E	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1319	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		324					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.972C>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551663	0.03996	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.73363	-0.74	4.07	-7.76	0.01232	.	3.061260	0.01207	N	0.007759	T	0.52240	0.1722	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15484	0.013	T	0.41288	-0.9517	10	0.42905	T	0.14	1.3618	4.7517	0.13064	0.1858:0.1413:0.5492:0.1236	.	324	Q86T13	CLC14_HUMAN	E	324;89	ENSP00000353013:D324E	ENSP00000353013:D324E	D	-	3	2	CLEC14A	37794007	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.639000	0.02011	-1.582000	0.01640	0.591000	0.81541	GAC		0.602	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		T	38724256	G	T	38724256	3	4	164	1	0	0	0	0	1	0	0	0	3499	1136	40	5	504	5	CLEC14A	14	38724256	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	18138100	38724256	68625284	61	11654											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208951	65208951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccccactgcaccccCgcatcgtgcagctctcccac	5	7	9	20	2	1	0	0	0	1	0	3	0	1	0	5	2	3	4	5	2	0	0	rs150120531		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:65208951C>G	ENST00000394691.1	+	16	2863	c.2716C>G	c.(2716-2718)Cgc>Ggc	p.R906G	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R439G|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R850G|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R411G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	906							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACTGCACCCCCGCATCGTGCA	0.662																																						uc001xhp.2																			0		p.P1027Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3079-3081)Cgc>Ggc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.							37	43	41					14																	65208951		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208951C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2716C>G	14.37:g.65208951C>G	ENSP00000378183:p.Arg906Gly					PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xho.1_Missense_Mutation_p.R906G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G	p.R1027G	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3118	+			906					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3079C>G		.	.	.	.	.	.	.	.	.	.	C	16.51	3.142961	0.57044	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.66995	0.2;-0.24;1.11;1.12	6.17	4.36	0.52297	.	0.380719	0.25807	N	0.028179	T	0.68769	0.3037	M	0.66939	2.045	0.09310	N	1	P;P;P;P	0.51240	0.943;0.943;0.858;0.913	P;P;B;P	0.50314	0.535;0.535;0.433;0.637	T	0.62817	-0.6774	10	0.56958	D	0.05	.	7.0952	0.25305	0.1394:0.7168:0.0:0.1438	.	439;411;906;850	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	G	850;906;439;411	ENSP00000247226:R850G;ENSP00000378183:R906G;ENSP00000450945:R439G;ENSP00000450973:R411G	ENSP00000247226:R850G	R	+	1	0	PLEKHG3	64278704	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	-0.074000	0.11450	0.935000	0.37341	0.655000	0.94253	CGC		0.662	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		G	65208951	C	G	65208951	3	3	164	1	0	0	0	0	1	0	0	0	12070	652	23	5	2598	5	PLEKHG3	14	65208951	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	26484695	65208951	42140589	62	11655											
AK7	122481	broad.mit.edu	37	chr14	96864516	96864516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaagcttcctcaaccaaAgtgaaggaaggcacattcca	14	7	9	11	0	1	1	1	1	0	0	3	3	3	3	3	3	2	2	3	3	5	2	rs17853407		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:96864516A>T	ENST00000267584.4	+	2	254	c.210A>T	c.(208-210)aaA>aaT	p.K70N	AK7_ENST00000555570.1_Missense_Mutation_p.K70N	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	70					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTCAACCAAAGTGAAGGAAG	0.507																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(208-210)aaA>aaT		Homo sapiens adenylate kinase 7 (AK7), mRNA.							118	107	111					14																	96864516		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864516A>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.210A>T	14.37:g.96864516A>T	ENSP00000267584:p.Lys70Asn					AK7_uc001yfm.1_Missense_Mutation_p.K70N	p.K70N	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	1	254	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	70					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.210A>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917592	0.73098	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.57273	0.41	5.35	-5.36	0.02689	.	0.470134	0.23219	N	0.050590	T	0.59542	0.2201	M	0.62723	1.935	0.09310	N	1	P;D	0.71674	0.565;0.998	B;D	0.66979	0.135;0.948	T	0.58031	-0.7708	10	0.56958	D	0.05	-18.885	10.3324	0.43831	0.3997:0.1013:0.4989:0.0	.	70;70	Q96M32;G3V365	KAD7_HUMAN;.	N	70	ENSP00000267584:K70N	ENSP00000267584:K70N	K	+	3	2	AK7	95934269	0.020000	0.18652	0.002000	0.10522	0.508000	0.34012	0.002000	0.13061	-0.934000	0.03733	0.402000	0.26972	AAA		0.507	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			T	96864516	A	T	96864516	3	4	164	1	0	0	0	0	1	0	0	0	444	69	3	5	216	5	AK7	14	96864516	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	31655565	96864516	10485024	63	11656											
JAG2	3714	broad.mit.edu	37	chr14	105609273	105609273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcctcgtccgccctgCgcggcggcggcgtgaagttc	3	6	16	16	8	0	1	0	1	0	0	3	1	1	1	3	3	2	2	3	3	1	1	rs200736888	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:105609273C>T	ENST00000331782.3	-	26	3879	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	JAG2_ENST00000347004.2_Missense_Mutation_p.R1121H	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1159					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gtccgccctgcgcggcggcgg	0.721													C|||	2	0.000399361	8e-04	0	5008	,	,		9916	0		0	False		,,,				2504	0.001					uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3475-3477)cGc>cAc		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4354		0,0,2177	12	14	13		3476,3362	1.2	0.9	14		13	6,8484		0,6,4239	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	29,29	0,6,6416	TT,TC,CC		0.0707,0.0,0.0467	benign,benign	1159/1239,1121/1201	105609273	6,12838	2177	4245	6422	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609273C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3476G>A	14.37:g.105609273C>T	ENSP00000328169:p.Arg1159His					JAG2_uc001yqf.3_Missense_Mutation_p.R563H|JAG2_uc001yqh.3_Missense_Mutation_p.R1121H	p.R1159H	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3880	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1159					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3476G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	6.313	0.425762	0.11987	0.0	7.07E-4	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86432	-2.12;-2.12	4.61	1.22	0.21188	.	0.810877	0.11082	N	0.601761	T	0.75376	0.3841	N	0.16478	0.41	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.04013	0.001;0.001	T	0.64110	-0.6484	10	0.56958	D	0.05	.	6.9449	0.24512	0.0:0.4991:0.0:0.5009	.	1121;1159	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	H	1159;1121	ENSP00000328169:R1159H;ENSP00000328566:R1121H	ENSP00000328169:R1159H	R	-	2	0	JAG2	104680318	0.024000	0.19004	0.912000	0.35992	0.031000	0.12232	0.640000	0.24705	0.385000	0.24970	-0.424000	0.05967	CGC		0.721	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105609273	C	T	105609273	3	4	164	1	0	0	0	0	1	0	0	0	7935	768	27	1	244	1	JAG2	14	105609273	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	8744757	105609273	1740267	64	11657											
PIF1	80119	broad.mit.edu	37	chr15	65110455	65110455	+	Splice_Site	DEL	C	C	-																															ccacctcctcccaacacttaCctctcccttctgcctcgaac																										TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:65110455delC	ENST00000268043.4	-	10	1623		c.e10+1		PIF1_ENST00000333425.6_Splice_Site|PIF1_ENST00000559239.1_Splice_Site					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCAACACTTACCTCTCCCTTC	0.582																																						uc002ant.2																			0				kidney(1)|lung(1)	2						c.e10+1		Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.							163	128	140					15																	65110455		2202	4299	6501	SO:0001630	splice_region_variant	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65110455delC	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1528+1G>-	15.37:g.65110455delC						PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	p.G510_splice	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			10	1594	-			510			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Splice_Site	DEL	ENST00000268043.4	37	c.1528_splice	CCDS10195.2																																																																																				0.582	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049	Intron	-	65110455	C	-	65110455	8	5	164	1	0	1	0	1	0	0	1	0	11883	521	18	0	412	0	PIF1	15	65110455	Splice_Site	DEL	C	TCGA-19-5951-01A-11D-1696-08		65110455	37420937	65	11658											
LRRK1	79705	broad.mit.edu	37	chr15	101595366	101595366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgagggcgccctaggcGtggagggcactcctggctac	6	7	15	13	2	0	1	0	1	0	0	2	2	2	2	3	5	1	2	3	5	2	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:101595366G>A	ENST00000388948.3	+	27	4629	c.4270G>A	c.(4270-4272)Gtg>Atg	p.V1424M	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.V1421M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCCCTAGGCGTGGAGGGCAC	0.567																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4270-4272)Gtg>Atg		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							67	68	67					15																	101595366		2014	4168	6182	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595366G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4270G>A	15.37:g.101595366G>A	ENSP00000373600:p.Val1424Met					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	p.V1424M	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		26	4589	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1424			Protein kinase.			Missense_Mutation	SNP	ENST00000388948.3	37	c.4270G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834290	0.71373	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762	T;T	0.67171	-0.25;-0.25	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	N	0.16233	0.39	0.45378	D	0.998369	D	0.89917	1.0	D	0.74348	0.983	T	0.74269	-0.3720	10	0.48119	T	0.1	.	18.1639	0.89718	0.0:0.0:1.0:0.0	.	1424	Q38SD2	LRRK1_HUMAN	M	1424;1421;115	ENSP00000373600:V1424M;ENSP00000284395:V1421M	ENSP00000284395:V1421M	V	+	1	0	LRRK1	99412889	1.000000	0.71417	0.977000	0.42913	0.839000	0.47603	7.541000	0.82084	2.347000	0.79759	0.591000	0.81541	GTG		0.567	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101595366	G	A	101595366	3	1	164	1	0	0	0	0	1	0	0	0	9032	1145	40	1	4372	1	LRRK1	15	101595366	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	36484911	101595366	936026	66	11659											
APOB48R	55911	broad.mit.edu	37	chr16	28507939	28507939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggaggcaactccagaggCcaggcctgaggaggagctca	10	5	15	11	0	1	2	1	1	0	1	2	5	2	5	3	6	2	2	3	6	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:28507939C>T	ENST00000431282.1	+	3	1560	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V	APOBR_ENST00000564831.1_Missense_Mutation_p.A526V|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.A517V|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	517	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACTCCAGAGGCCAGGCCTGAG	0.652																																						uc002dqb.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1576-1578)gCc>gTc		Homo sapiens apolipoprotein B receptor (APOBR), mRNA.							15	18	17					16																	28507939		2072	4198	6270	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507939C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1550C>T	16.37:g.28507939C>T	ENSP00000416094:p.Ala517Val					NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.A55V	p.A526V	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			1	1610	+			517			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1577C>T		.	.	.	.	.	.	.	.	.	.	C	13.87	2.366089	0.41902	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.70986	-0.53;-0.53	4.92	-0.242	0.13039	.	.	.	.	.	T	0.50667	0.1629	N	0.20986	0.625	0.09310	N	1	P;P	0.37101	0.582;0.582	B;B	0.36464	0.225;0.188	T	0.40942	-0.9536	9	0.40728	T	0.16	0.0148	4.5446	0.12074	0.1546:0.523:0.0:0.3224	.	517;517	Q0VD83;Q9NS13	APOBR_HUMAN;.	V	517	ENSP00000327669:A517V;ENSP00000416094:A517V	ENSP00000327669:A517V	A	+	2	0	APOBR	28415440	0.001000	0.12720	0.042000	0.18584	0.180000	0.23129	0.068000	0.14531	0.471000	0.27319	-0.144000	0.13903	GCC		0.652	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		T	28507939	C	T	28507939	3	4	164	1	0	0	0	0	1	0	0	0	786	739	26	3	1560	3	APOB48R	16	28507939	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		28507939	61846814	67	11660											
SLC5A2	6524	broad.mit.edu	37	chr16	31500623	31500623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggcctcctcaccctcacGgtctccctgtgcaccgcgcc	3	9	8	21	3	4	0	2	0	2	0	6	0	5	0	6	2	1	1	6	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:31500623G>A	ENST00000330498.3	+	12	1648	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	543					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCACCCTCACGGTCTCCCTGT	0.637																																						uc002ecf.4																			0		p.L542F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1627-1629)acG>acA		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.							115	67	83					16																	31500623		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500623G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1629G>A	16.37:g.31500623G>A						SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	p.T543T	NM_003041	NP_003032	P31639	SC5A2_HUMAN			11	1648	+			543					A2RRD2	Silent	SNP	ENST00000330498.3	37	c.1629G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	1.725	-0.495726	0.04291	.	.	ENSG00000140675	ENST00000419665	D	0.87571	-2.27	5.02	-10.0	0.00425	.	.	.	.	.	D	0.84279	0.5437	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.81059	-0.1104	6	0.87932	D	0	.	10.0756	0.42358	0.0777:0.5438:0.2459:0.1325	.	.	.	.	S	437	ENSP00000410601:G437S	ENSP00000410601:G437S	G	+	1	0	SLC5A2	31408124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-11.194000	0.00004	-4.842000	0.00030	-1.172000	0.01736	GGT		0.637	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			A	31500623	G	A	31500623	2	1	164	1	0	0	0	0	0	0	0	1	14665	1103	39	2		2	SLC5A2	16	31500623	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	2992684	31500623	58854130	68	11661											
NOL3	8996	broad.mit.edu	37	chr16	67208819	67208819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacccagagcccgagccCgacttcgaggaaagggacga	11	2	14	14	5	0	1	0	0	0	1	1	8	0	4	4	3	2	0	4	3	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:67208819C>T	ENST00000568146.1	+	3	634	c.581C>T	c.(580-582)cCg>cTg	p.P194L	KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_Silent_p.P197P|NOL3_ENST00000564053.1_Silent_p.P259P|NOL3_ENST00000432069.2_Silent_p.P197P			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	194					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcccgagcccgacttcgaGG	0.672																																						uc010vjd.2																			0				ovary(1)	1						c.(580-582)cCg>cTg		Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.							34	45	41					16																	67208819		2054	4220	6274	SO:0001583	missense	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208819C>T	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.581C>T	16.37:g.67208819C>T	ENSP00000454598:p.Pro194Leu					NOL3_uc010vjc.2_Silent_p.P197P|NOL3_uc002erp.3_Silent_p.P197P	p.P194L	NM_001185057	NP_001171986	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	774	+		Ovarian(137;0.192)	194					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.581C>T	CCDS58473.1																																																																																				0.672	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			T	67208819	C	T	67208819	3	4	164	1	0	0	0	0	1	0	0	0	10523	652	23	2	597	2	NOL3	16	67208819	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	35708196	67208819	23145934	69	11662											
FOXL1	2300	broad.mit.edu	37	chr16	86613224	86613224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgggtgcctcgctcctgGccgcctcctccagcctccgt	1	10	11	19	3	1	0	0	0	1	0	6	0	5	0	8	2	2	1	8	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:86613224G>A	ENST00000320241.3	+	1	1110	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	299					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCGCTCCTGGCCGCCTCCTC	0.672																																					NSCLC(163;308 2020 10889 11476 18208)	uc002fjr.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(895-897)Gcc>Acc		Homo sapiens forkhead box L1 (FOXL1), mRNA.							21	24	23					16																	86613224		2198	4300	6498	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86613224G>A	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.895G>A	16.37:g.86613224G>A	ENSP00000326272:p.Ala299Thr						p.A299T	NM_005250	NP_005241	Q12952	FOXL1_HUMAN			0	1110	+			299					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.895G>A	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276193	0.59649	.	.	ENSG00000176678	ENST00000320241	D	0.94046	-3.34	4.92	4.92	0.64577	.	1.163160	0.06391	U	0.717175	D	0.92721	0.7686	N	0.19112	0.55	0.26339	N	0.977393	D	0.63880	0.993	P	0.55508	0.777	D	0.85090	0.0951	10	0.19590	T	0.45	.	16.7292	0.85431	0.0:0.0:1.0:0.0	.	299	Q12952	FOXL1_HUMAN	T	299	ENSP00000326272:A299T	ENSP00000326272:A299T	A	+	1	0	FOXL1	85170725	0.960000	0.32886	1.000000	0.80357	0.750000	0.42670	2.754000	0.47532	2.276000	0.75962	0.555000	0.69702	GCC		0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		A	86613224	G	A	86613224	3	1	164	1	0	0	0	0	1	0	0	0	6016	1203	42	3	897	3	FOXL1	16	86613224	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	19404405	86613224	3741529	70	11663											
TRPV1	7442	broad.mit.edu	37	chr17	3493599	3493599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagaagtccccatgggccGcagcctggacgtctgctccg	8	7	12	14	3	1	1	0	0	1	1	3	2	3	2	5	2	2	2	5	2	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:3493599G>A	ENST00000571088.1	-	5	905	c.692C>T	c.(691-693)gCg>gTg	p.A231V	TRPV1_ENST00000174621.6_Missense_Mutation_p.A229V|SHPK_ENST00000572705.1_Missense_Mutation_p.A231V|TRPV1_ENST00000576351.1_Missense_Mutation_p.A231V|TRPV1_ENST00000310522.5_Missense_Mutation_p.A231V|TRPV1_ENST00000425167.2_Missense_Mutation_p.A231V|TRPV1_ENST00000399759.3_Missense_Mutation_p.A231V|TRPV1_ENST00000399756.4_Missense_Mutation_p.A231V	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	231					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCATGGGCCGCAGCCTGGAC	0.572																																					Melanoma(38;962 1762 15789)	uc010vro.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(691-693)gCg>gTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						70	77	75					17																	3493599		2091	4219	6310	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493599G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.692C>T	17.37:g.3493599G>A	ENSP00000461007:p.Ala231Val					TRPV1_uc010vrp.2_Missense_Mutation_p.A231V|TRPV1_uc010vrq.2_Missense_Mutation_p.A229V|TRPV1_uc010vrr.2_Missense_Mutation_p.A231V|TRPV1_uc010vrs.2_Missense_Mutation_p.A231V|TRPV1_uc010vrt.2_Missense_Mutation_p.A231V|TRPV1_uc010vru.2_Missense_Mutation_p.A231V	p.A231V	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	3	725	-			231					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.692C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.122874	0.37436	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.89810	-2.43;-2.43;-2.57;-2.43;-2.42	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.211187	0.48767	D	0.000172	D	0.85401	0.5688	N	0.11000	0.08	0.25493	N	0.987621	D;D;D;D	0.76494	0.971;0.993;0.993;0.999	B;B;P;P	0.55824	0.21;0.316;0.52;0.785	T	0.79676	-0.1704	10	0.59425	D	0.04	-7.2664	13.0868	0.59146	0.0:0.2704:0.7296:0.0	.	231;229;231;231	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	V	231;231;229;231;231	ENSP00000382661:A231V;ENSP00000382659:A231V;ENSP00000174621:A229V;ENSP00000409627:A231V;ENSP00000311692:A231V	ENSP00000174621:A229V	A	-	2	0	TRPV1	3440348	0.224000	0.23674	0.877000	0.34402	0.273000	0.26683	2.251000	0.43187	2.555000	0.86185	0.467000	0.42956	GCG		0.572	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		A	3493599	G	A	3493599	3	1	164	1	0	0	0	0	1	0	0	0	16592	1087	38	1	1548	1	TRPV1	17	3493599	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		3493599	77701611	71	11664											
POTEC	388468	broad.mit.edu	37	chr18	14542809	14542809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccacgttgctcttgcCgctccccctgcagcagggga	5	7	12	17	3	1	0	0	0	1	0	2	1	2	1	4	2	5	5	4	2	0	2	rs113041483		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr18:14542809C>T	ENST00000358970.5	-	1	336	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	113										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCTTGCCGCTCCCCCTG	0.597																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(337-339)Ggc>Agc		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							35	45	42					18																	14542809		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542809C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.337G>A	18.37:g.14542809C>T	ENSP00000351856:p.Gly113Ser					POTEC_uc010xaj.2_Non-coding_Transcript	p.G113S	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			0	791	-			113						Missense_Mutation	SNP	ENST00000358970.5	37	c.337G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	6.547	0.469204	0.12461	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.30714	1.52	0.15	0.15	0.14883	.	.	.	.	.	T	0.22003	0.0530	L	0.50333	1.59	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.19095	-1.0316	8	0.26408	T	0.33	.	.	.	.	.	113	B2RU33	POTEC_HUMAN	S	113	ENSP00000351856:G113S	ENSP00000351856:G113S	G	-	1	0	POTEC	14532809	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.371000	0.07513	0.194000	0.20326	0.197000	0.17608	GGC		0.597	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		T	14542809	C	T	14542809	3	4	164	1	0	0	0	0	1	0	0	0	12262	652	23	2	1335	2	POTEC	18	14542809	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		14542809	63534439	72	11665											
ABCA7	10347	broad.mit.edu	37	chr19	1056425	1056425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcccccaggcccggccCgccacgcccacagcatcacc	7	2	8	24	3	1	0	1	0	0	0	1	0	1	0	8	2	2	1	8	2	0	0	rs574184010	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:1056425C>T	ENST00000263094.6	+	33	4744	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	ABCA7_ENST00000435683.2_Missense_Mutation_p.R1367C|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1505C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1505					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCGGCCCGCCACGCCCA	0.612													C|||	7	0.00139776	0	0.0014	5008	,	,		16838	0.001		0	False		,,,				2504	0.0051					uc002lqw.4																			0		p.A1504V(1)|p.R1505L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4513-4515)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.							121	103	109					19																	1056425		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056425C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4513C>T	19.37:g.1056425C>T	ENSP00000263094:p.Arg1505Cys					ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	p.R1505C	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	32	4744	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1505					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4513C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	9.479	1.097752	0.20552	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86769	-2.17;-2.17	3.76	1.5	0.22942	.	.	.	.	.	D	0.86121	0.5857	L	0.31065	0.9	0.09310	N	0.999999	D	0.62365	0.991	P	0.56788	0.806	T	0.76961	-0.2765	9	0.66056	D	0.02	.	10.7548	0.46230	0.3721:0.6279:0.0:0.0	.	1505	Q8IZY2	ABCA7_HUMAN	C	1505	ENSP00000263094:R1505C;ENSP00000414062:R1505C	ENSP00000263094:R1505C	R	+	1	0	ABCA7	1007425	0.001000	0.12720	0.031000	0.17742	0.029000	0.11900	0.927000	0.28818	0.224000	0.20940	-0.410000	0.06199	CGC		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1056425	C	T	1056425	3	4	164	1	0	0	0	0	1	0	0	0	37	652	23	2	4639	2	ABCA7	19	1056425	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		1056425	58072558	73	11666											
EMR1	2015	broad.mit.edu	37	chr19	6906478	6906478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggaagatgtgataccCgataataagcagatccagca	16	8	10	7	1	0	3	0	1	0	2	1	5	1	4	2	1	3	3	2	1	5	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:6906478C>T	ENST00000312053.4	+	9	1021	c.984C>T	c.(982-984)ccC>ccT	p.P328P	EMR1_ENST00000250572.8_Silent_p.P328P|EMR1_ENST00000381407.5_Silent_p.P187P|EMR1_ENST00000450315.3_Silent_p.P151P|EMR1_ENST00000381404.4_Silent_p.P276P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	328	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGTGATACCCGATAATAAGC	0.388																																						uc002mfw.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(982-984)ccC>ccT		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.							140	134	136					19																	6906478		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6906478C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.984C>T	19.37:g.6906478C>T						EMR1_uc010dvc.3_Silent_p.P328P|EMR1_uc010dvb.3_Silent_p.P276P|EMR1_uc010xji.2_Silent_p.P187P|EMR1_uc010xjj.2_Silent_p.P151P	p.P328P	NM_001974	NP_001965	Q14246	EMR1_HUMAN			8	1022	+	all_hematologic(4;0.166)		328			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.984C>T	CCDS12175.1																																																																																				0.388	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			T	6906478	C	T	6906478	2	4	164	1	0	0	0	0	0	0	0	1	5104	639	23	2		2	EMR1	19	6906478	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	5850053	6906478	52222505	74	11667											
RAVER1	125950	broad.mit.edu	37	chr19	10434234	10434234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctgcccatcctggccGcacgccagctgccggaggaa	7	6	12	16	3	1	0	1	0	0	0	2	2	2	2	5	3	4	3	5	3	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:10434234G>A	ENST00000293677.6	-	4	897	c.816C>T	c.(814-816)tgC>tgT	p.C272C	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(814-816)tgC>tgT		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							23	27	26					19																	10434234		2187	4275	6462	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434234G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.816C>T	19.37:g.10434234G>A							p.C272C	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	896	-			255			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.816C>T	CCDS45960.1																																																																																				0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		A	10434234	G	A	10434234	2	1	164	1	0	0	0	0	0	0	0	1	13094	1079	38	1		1	RAVER1	19	10434234	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	3527756	10434234	48694749	75	11668											
ZNF676	163223	broad.mit.edu	37	chr19	22364159	22364159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaacatttatgaaagacGtttgcatatttgccacattg	12	16	7	6	1	0	3	0	2	0	1	0	3	0	3	1	0	3	2	1	0	4	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:22364159G>C	ENST00000397121.2	-	3	677	c.360C>G	c.(358-360)aaC>aaG	p.N120K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAAAGACGTTTGCATATT	0.328																																						uc002nqs.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(358-360)aaC>aaG		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.							145	136	139					19																	22364159		1988	4194	6182	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364159G>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.360C>G	19.37:g.22364159G>C	ENSP00000380310:p.Asn120Lys						p.N120K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	678	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	120					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.360C>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.057955	0.00038	.	.	ENSG00000196109	ENST00000397121	T	0.21031	2.03	0.742	-1.48	0.08745	.	.	.	.	.	T	0.03520	0.0101	N	0.00014	-2.91	0.09310	N	1	D	0.63880	0.993	P	0.55824	0.785	T	0.18555	-1.0333	9	0.02654	T	1	.	2.7232	0.05206	0.4855:0.0:0.3063:0.2082	.	120	Q8N7Q3	ZN676_HUMAN	K	120	ENSP00000380310:N120K	ENSP00000380310:N120K	N	-	3	2	ZNF676	22155999	0.136000	0.22515	0.002000	0.10522	0.159000	0.22180	0.000000	0.12993	-1.476000	0.01874	-1.101000	0.02118	AAC		0.328	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		C	22364159	G	C	22364159	3	2	164	1	0	0	0	0	1	0	0	0	18080	1136	40	5	1410	5	ZNF676	19	22364159	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	11929925	22364159	36764824	76	11669											
C5AR1	728	broad.mit.edu	37	chr19	47823567	47823567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtaccgggtggtccGggaggagtactttccaccaa	7	10	12	12	2	0	0	0	0	0	0	3	2	3	2	5	4	2	2	5	4	3	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:47823567G>A	ENST00000355085.3	+	2	555	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	178					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGGGTGGTCCGGGAGGAGTAC	0.637																																						uc002pgj.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(532-534)cGg>cAg		Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.							77	78	78					19																	47823567		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823567G>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.533G>A	19.37:g.47823567G>A	ENSP00000347197:p.Arg178Gln						p.R178Q	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	1	582	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	178						Missense_Mutation	SNP	ENST00000355085.3	37	c.533G>A	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.514208	0.27123	.	.	ENSG00000197405	ENST00000355085	T	0.37752	1.18	4.63	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	0.935307	0.08914	U	0.875470	T	0.15089	0.0364	N	0.04705	-0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	10	0.29301	T	0.29	.	4.609	0.12392	0.4878:0.0:0.358:0.1542	.	178	P21730	C5AR_HUMAN	Q	178	ENSP00000347197:R178Q	ENSP00000347197:R178Q	R	+	2	0	C5AR1	52515407	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.720000	0.01871	-0.737000	0.04824	-0.371000	0.07208	CGG		0.637	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		A	47823567	G	A	47823567	3	1	164	1	0	0	0	0	1	0	0	0	2281	1116	39	2	538	2	C5AR1	19	47823567	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	25459408	47823567	11305416	77	11670											
POLD1	5424	broad.mit.edu	37	chr19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggacctgctgtgcaaccGcatcgatatctcccagctgg	7	9	10	15	3	1	0	0	0	1	0	4	2	1	1	3	2	4	4	3	2	2	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:50918754G>A	ENST00000440232.2	+	21	2677	c.2624G>A	c.(2623-2625)cGc>cAc	p.R875H	POLD1_ENST00000599857.1_Missense_Mutation_p.R875H|POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	875					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)																														uc010eny.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2701-2703)cGc>cAc	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.							45	36	39					19																	50918754		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918754G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2624G>A	19.37:g.50918754G>A	ENSP00000406046:p.Arg875His					POLD1_uc002psb.4_Missense_Mutation_p.R875H|POLD1_uc002psc.4_Missense_Mutation_p.R875H|POLD1_uc010enx.3_Non-coding_Transcript	p.R901H	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	19	2703	+		all_neural(266;0.0571)	875					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2702G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604917	0.87157	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18174	2.23	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.059138	0.64402	D	0.000002	T	0.40886	0.1135	M	0.92219	3.285	0.80722	D	1	P;P	0.47409	0.792;0.895	B;P	0.49502	0.429;0.613	T	0.58487	-0.7628	10	0.62326	D	0.03	-20.3747	15.8183	0.78621	0.0:0.0:1.0:0.0	.	901;875	E7EVW0;P28340	.;DPOD1_HUMAN	H	875;876	ENSP00000406046:R875H	ENSP00000366129:R876H	R	+	2	0	POLD1	55610566	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.860000	0.69546	2.114000	0.64651	0.450000	0.29827	CGC		0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50918754	G	A	50918754	3	1	164	1	0	0	0	0	1	0	0	0	12190	1087	38	1	2702	1	POLD1	19	50918754	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	3095187	50918754	8210229	78	11671											
SNX5	27131	broad.mit.edu	37	chr20	17929612	17929612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgatgaaactcgaccCtctactttctatatagaaaa	14	13	4	10	1	4	3	1	2	3	1	5	4	4	3	1	0	2	0	1	0	7	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:17929612C>T	ENST00000377768.3	-	11	1152	c.840G>A	c.(838-840)gaG>gaA	p.E280E	SNX5_ENST00000377759.4_Silent_p.E280E|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	280	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.E280D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAACTCGACCCTCTACTTTCT	0.383																																						uc002wqc.3																			1	Substitution - Missense(1)	p.E280D(2)	lung(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(838-840)gaG>gaA		Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.							80	80	80					20																	17929612		2203	4300	6503	SO:0001819	synonymous_variant	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17929612C>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.840G>A	20.37:g.17929612C>T						SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.E280E|SNX5_uc002wqe.3_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	p.E280E	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN			9	926	-			280			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	c.840G>A	CCDS13130.1																																																																																				0.383	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			T	17929612	C	T	17929612	2	4	164	1	0	0	0	0	0	0	0	1	14905	680	24	3		3	SNX5	20	17929612	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		17929612	45095908	79	11672											
NCOA3	8202	broad.mit.edu	37	chr20	46264906	46264906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcaaatagcagagatcaCctcagtgacaaagaaagtaa	19	6	8	8	0	3	3	3	1	0	2	3	4	3	3	1	0	1	2	1	0	5	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:46264906C>T	ENST00000371998.3	+	12	1967	c.1776C>T	c.(1774-1776)caC>caT	p.H592H	NCOA3_ENST00000341724.6_Silent_p.H602H|NCOA3_ENST00000371997.3_Silent_p.H602H|NCOA3_ENST00000372004.3_Silent_p.H592H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	592	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGAGATCACCTCAGTGACA	0.423																																						uc002xtk.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1774-1776)caC>caT		Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.							63	60	61					20																	46264906		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264906C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1776C>T	20.37:g.46264906C>T						NCOA3_uc002xtl.3_Silent_p.H592H|NCOA3_uc002xtn.3_Silent_p.H592H|NCOA3_uc010ght.2_Silent_p.H602H|NCOA3_uc002xtm.3_Silent_p.H592H|NCOA3_uc010zyc.2_Silent_p.H387H	p.H592H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			11	2037	+			592			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.1776C>T	CCDS13407.1																																																																																				0.423	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46264906	C	T	46264906	2	4	164	1	0	0	0	0	0	0	0	1	10230	506	18	3		3	NCOA3	20	46264906	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	28335294	46264906	16760614	80	11673											
DSCAM	1826	broad.mit.edu	37	chr21	41455893	41455893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggtgatggaggaagaCgtggtcttggagactgtaag	12	8	18	3	1	1	3	0	1	1	2	1	7	1	5	0	5	0	1	0	5	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr21:41455893C>T	ENST00000400454.1	-	24	4650	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1391	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAAGACGTGGTCTTGG	0.433																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4171-4173)acG>acA		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							80	80	80					21																	41455893		1905	4127	6032	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41455893C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4173G>A	21.37:g.41455893C>T						DSCAM_uc002yyr.1_Non-coding_Transcript	p.T1391T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			23	4625	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1391			Fibronectin type-III 5.		O60468	Silent	SNP	ENST00000400454.1	37	c.4173G>A	CCDS42929.1																																																																																				0.433	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	41455893	C	T	41455893	2	4	164	1	0	0	0	0	0	0	0	1	4768	523	19	1		1	DSCAM	21	41455893	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		41455893	6674002	81	11674											
ARSH	347527	broad.mit.edu	37	chrX	2931164	2931164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcttcccaccaatgaaacGacttttgccaagctgctgca	10	10	8	13	1	1	1	0	1	1	0	2	2	2	1	3	1	5	3	3	1	3	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:2931164G>A	ENST00000381130.2	+	3	291	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	97					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAATGAAACGACTTTTGCCA	0.552																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(289-291)acG>acA		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							157	121	133					X																	2931164		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2931164G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.291G>A	X.37:g.2931164G>A							p.T97T	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			2	291	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	97						Silent	SNP	ENST00000381130.2	37	c.291G>A	CCDS35198.1																																																																																				0.552	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		A	2931164	G	A	2931164	2	1	164	1	0	0	0	0	0	0	0	1	993	1045	37	2		2	ARSH	23	2931164	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		2931164	152339396	82	11675											
ELK1	2002	broad.mit.edu	37	chrX	47496310	47496310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatgtgcacctgggcgCtgccactggatggaaactgg	9	7	16	9	1	0	0	0	0	0	0	0	3	0	3	2	5	3	2	2	5	2	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47496310C>T	ENST00000247161.3	-	6	1304	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N	ELK1_ENST00000376983.3_Missense_Mutation_p.S402N|ELK1_ENST00000592066.1_Missense_Mutation_p.S348N	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	402					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACCTGGGCGCTGCCACTGGA	0.597																																						uc004dik.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(1204-1206)aGc>aAc		Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.							24	21	22					X																	47496310		2189	4271	6460	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47496310C>T	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1205G>A	X.37:g.47496310C>T	ENSP00000247161:p.Ser402Asn					ELK1_uc010nhv.3_Missense_Mutation_p.S402N|ELK1_uc010nhw.3_Missense_Mutation_p.S292N|ELK1_uc004dil.4_Non-coding_Transcript	p.S402N	NM_001114123	NP_005220	P19419	ELK1_HUMAN			6	1527	-			402					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.1205G>A	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157190	0.09236	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.46063	0.88;0.88	5.19	4.33	0.51752	.	0.327281	0.39020	N	0.001487	T	0.21227	0.0511	N	0.17674	0.51	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.10382	-1.0632	10	0.02654	T	1	.	7.2708	0.26256	0.0:0.7959:0.0:0.2041	.	402	P19419	ELK1_HUMAN	N	402;95;402	ENSP00000247161:S402N;ENSP00000366182:S402N	ENSP00000247161:S402N	S	-	2	0	ELK1	47381254	0.904000	0.30761	1.000000	0.80357	0.886000	0.51366	0.540000	0.23191	0.966000	0.38159	0.513000	0.50165	AGC		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		T	47496310	C	T	47496310	3	4	164	1	0	0	0	0	1	0	0	0	5059	797	28	3	85	3	ELK1	23	47496310	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	44565146	47496310	107774250	83	11676											
ZNF182	7569	broad.mit.edu	37	chrX	47842806	47842806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacatcttcaaatgtcacTagcccctgtaatggtacatt	11	13	6	11	0	3	0	2	0	1	0	3	0	3	0	2	1	3	3	2	1	5	6			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47842806T>C	ENST00000396965.1	-	5	428	c.78A>G	c.(76-78)ctA>ctG	p.L26L	ZNF182_ENST00000305127.6_Silent_p.L26L|ZNF182_ENST00000376943.3_Silent_p.L7L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAATGTCACTAGCCCCTGTA	0.463																																						uc004dir.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(76-78)ctA>ctG		Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.							107	94	99					X																	47842806		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47842806T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.78A>G	X.37:g.47842806T>C						ZNF182_uc004dis.3_Silent_p.L7L|ZNF182_uc004dit.3_Silent_p.L26L|ZNF630_uc010nhz.1_Non-coding_Transcript	p.L26L	NM_006962	NP_008893	P17025	ZN182_HUMAN			4	424	-			26					A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.78A>G	CCDS35236.1																																																																																				0.463	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		C	47842806	T	C	47842806	2	2	164	1	0	0	0	0	0	0	0	1	17747	1509	53	4		4	ZNF182	23	47842806	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	346496	47842806	107427754	84	11677											
WAS	7454	broad.mit.edu	37	chrX	48545194	48545194	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgggtccgctctcccTggggctggcgacagtggaca	5	8	15	13	2	1	0	0	0	1	0	4	2	3	1	3	5	0	2	3	5	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:48545194T>G	ENST00000376701.4	+	7	659	c.584T>G	c.(583-585)cTg>cGg	p.L195R	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	195					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCTCTCCCTGGGGCTGGCG	0.582			"Mis, N, F, S"			lymphoma																																uc004dkm.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"Mis, N, F, S"	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(583-585)cTg>cGg		Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.							69	57	61					X																	48545194		2203	4300	6503	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48545194T>G	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.584T>G	X.37:g.48545194T>G	ENSP00000365891:p.Leu195Arg						p.L195R	NM_000377	NP_000368	P42768	WASP_HUMAN			6	641	+		all_lung(315;1.27e-10)	195					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.584T>G	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944106	0.34283	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99778	-6.73;-6.67	4.39	4.39	0.52855	.	0.493351	0.19643	N	0.109414	D	0.99513	0.9826	L	0.55213	1.73	0.24021	N	0.996144	D	0.69078	0.997	D	0.68943	0.961	D	0.98979	1.0804	10	0.51188	T	0.08	-8.6658	10.7559	0.46237	0.0:0.0:0.0:1.0	.	195	P42768	WASP_HUMAN	R	195	ENSP00000410537:L195R;ENSP00000365891:L195R	ENSP00000365891:L195R	L	+	2	0	WAS	48430138	0.991000	0.36638	0.833000	0.33012	0.367000	0.29736	3.449000	0.52950	1.430000	0.47334	0.231000	0.17811	CTG		0.582	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		G	48545194	T	G	48545194	3	3	164	1	0	0	0	0	1	0	0	0	17248	1580	55	5	610	5	WAS	23	48545194	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	702388	48545194	106725366	85	11678											
SHROOM4	57477	broad.mit.edu	37	chrX	50377938	50377938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagtgggttggaatccaCgctggaagctctgtcacagg	9	10	14	8	1	2	1	1	1	1	0	3	3	3	3	1	4	1	3	1	4	2	2	rs376491533		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:50377938C>T	ENST00000289292.7	-	4	1418	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V379M|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V263M			Q9ULL8	SHRM4_HUMAN	shroom family member 4	379					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGGAATCCACGCTGGAAGCT	0.542																																						uc004dpe.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1135-1137)Gtg>Atg		Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.		T	MET/VAL	0,3835		0,0,1632,571	51	38	42		1135	0.7	0	X		42	1,6727		0,1,2427,1872	no	missense	SHROOM4	NM_020717.3	21	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	379/1494	50377938	1,10562	2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377938C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1135G>A	X.37:g.50377938C>T	ENSP00000289292:p.Val379Met					SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	p.V379M	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			3	1161	-	Ovarian(276;0.236)		379					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1135G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.268792	0.00259	0.0	1.49E-4	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.42131	0.98;0.98;0.98	4.69	0.708	0.18144	.	1.358100	0.04602	N	0.398746	T	0.26011	0.0634	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	10	0.34782	T	0.22	.	0.5879	0.00723	0.1704:0.1991:0.1733:0.4573	.	379	Q9ULL8	SHRM4_HUMAN	M	379;379;263	ENSP00000289292:V379M;ENSP00000365188:V379M;ENSP00000421450:V263M	ENSP00000289292:V379M	V	-	1	0	SHROOM4	50394678	0.011000	0.17503	0.001000	0.08648	0.000000	0.00434	0.876000	0.28092	-0.340000	0.08388	-1.368000	0.01194	GTG		0.542	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50377938	C	T	50377938	3	4	164	1	0	0	0	0	1	0	0	0	14296	536	19	1	3370	1	SHROOM4	23	50377938	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	1832744	50377938	104892622	86	11679											
ERCC6L	54821	broad.mit.edu	37	chrX	71425657	71425657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacaaaccctgctctggaaTtaggtgcagagccacacaag	13	6	10	12	0	1	1	0	0	1	1	1	2	1	2	2	2	4	3	2	2	4	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:71425657T>C	ENST00000334463.3	-	2	3095	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	ERCC6L_ENST00000373657.1_Missense_Mutation_p.N864S|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	987					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTCTGGAATTAGGTGCAGA	0.393																																						uc004eaq.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2959-2961)aAt>aGt		Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.							96	90	92					X																	71425657		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425657T>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2960A>G	X.37:g.71425657T>C	ENSP00000334675:p.Asn987Ser					PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S	p.N987S	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			1	3057	-	Renal(35;0.156)		987					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2960A>G	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	T	9.224	1.034129	0.19590	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91792	-2.87;-2.91	5.58	3.19	0.36642	.	.	.	.	.	D	0.87661	0.6233	L	0.59436	1.845	0.09310	N	1	P	0.37525	0.598	B	0.32211	0.142	T	0.78201	-0.2296	9	0.54805	T	0.06	-3.0329	6.3618	0.21433	0.0:0.1995:0.0:0.8005	.	987	Q2NKX8	ERC6L_HUMAN	S	864;987	ENSP00000362761:N864S;ENSP00000334675:N987S	ENSP00000334675:N987S	N	-	2	0	ERCC6L	71342382	0.024000	0.19004	0.002000	0.10522	0.459000	0.32528	0.984000	0.29565	0.266000	0.21894	0.481000	0.45027	AAT		0.393	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		C	71425657	T	C	71425657	3	2	164	1	0	0	0	0	1	0	0	0	5218	1493	52	4	796	4	ERCC6L	23	71425657	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	21047719	71425657	83844903	87	11680											
AMOT	154796	broad.mit.edu	37	chrX	112025789	112025789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctccatgtcaaggcaaCgcttattggccatcaagatt	10	11	8	12	1	2	1	2	0	0	1	3	1	3	1	3	2	2	2	3	2	4	3	rs534527259		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:112025789C>A	ENST00000524145.1	-	9	2293	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	AMOT_ENST00000371962.1_Missense_Mutation_p.R508L|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000304758.1_Missense_Mutation_p.R331L|AMOT_ENST00000371958.1_Missense_Mutation_p.R508L|AMOT_ENST00000371959.3_Missense_Mutation_p.R740L			Q4VCS5	AMOT_HUMAN	angiomotin	740					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCAAGGCAACGCTTATTGGC	0.453																																						uc004epr.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2218-2220)cGt>cTt		Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.							192	156	168					X																	112025789		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112025789C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2219G>T	X.37:g.112025789C>A	ENSP00000429013:p.Arg740Leu					AMOT_uc004eps.3_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|MIR4329_uc022ccu.1_5'Flank	p.R740L	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN			7	2237	-			740					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2219G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343057	0.95783	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.38560	1.13;1.61;1.86;1.61;1.37	5.54	5.54	0.83059	Angiomotin, C-terminal (1);	0.049290	0.85682	D	0.000000	T	0.58921	0.2156	M	0.74881	2.28	0.58432	D	0.999999	P	0.52577	0.954	P	0.53035	0.716	T	0.64219	-0.6459	10	0.72032	D	0.01	-8.0961	17.4084	0.87480	0.0:1.0:0.0:0.0	.	740	Q4VCS5	AMOT_HUMAN	L	331;740;508;740;508	ENSP00000305557:R331L;ENSP00000361027:R740L;ENSP00000361030:R508L;ENSP00000429013:R740L;ENSP00000361026:R508L	ENSP00000305557:R331L	R	-	2	0	AMOT	111912445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.324000	0.78689	0.523000	0.50628	CGT		0.453	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		A	112025789	C	A	112025789	3	1	164	1	0	0	0	0	1	0	0	0	582	536	19	5	1051	5	AMOT	23	112025789	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	40600132	112025789	43244771	88	11681											
FAM70A	55026	broad.mit.edu	37	chrX	119410875	119410875	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacatcgatgtattcGtagtacccaccagtgatctc	9	12	8	12	2	1	2	0	2	1	0	4	3	1	2	2	0	2	4	2	0	3	4	rs372830851		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:119410875G>T	ENST00000309720.5	-	8	735	c.612C>A	c.(610-612)taC>taA	p.Y204*	TMEM255A_ENST00000371352.1_Nonsense_Mutation_p.Y40*|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Nonsense_Mutation_p.Y180*	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	204						integral component of membrane (GO:0016021)											CGATGTATTCGTAGTACCCAC	0.582																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(610-612)taC>taA		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							233	171	192					X																	119410875		2203	4300	6503	SO:0001587	stop_gained	55026					integral to membrane		g.chrX:119410875G>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.612C>A	X.37:g.119410875G>T	ENSP00000310110:p.Tyr204*					FAM70A_uc004esp.4_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.3_Intron	p.Y204*	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	839	-			204					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Nonsense_Mutation	SNP	ENST00000309720.5	37	c.612C>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.948199	0.97134	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	.	.	.	5.27	-2.71	0.05986	.	0.056595	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6748	10.4148	0.44316	0.5677:0.0:0.4323:0.0	.	.	.	.	X	204;180;40	.	ENSP00000310110:Y204X	Y	-	3	2	FAM70A	119294903	0.039000	0.19947	0.897000	0.35233	0.971000	0.66376	-0.425000	0.07017	-1.008000	0.03404	-0.896000	0.02909	TAC		0.582	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		T	119410875	G	T	119410875	4	4	164	1	0	0	0	0	0	1	0	0	5605	1140	40	5	449	5	FAM70A	23	119410875	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	7385086	119410875	35859685	89	11682											
GDI1	2664	broad.mit.edu	37	chrX	153666947	153666947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacccctactacgggggcGagagctcctccatcacaccc	9	5	10	17	2	1	1	1	0	0	1	3	3	3	2	5	3	4	1	5	3	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:153666947G>A	ENST00000447750.2	+	2	459	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	42					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACGGGGGCGAGAGCTCCTC	0.617																																						uc004fli.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(124-126)Gag>Aag		Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.							99	75	83					X																	153666947		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153666947G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.124G>A	X.37:g.153666947G>A	ENSP00000394071:p.Glu42Lys					GDI1_uc011mzo.1_Missense_Mutation_p.E42K	p.E42K	NM_001493	NP_001484	P31150	GDIA_HUMAN			1	466	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		42					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.124G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395952	0.83011	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.58358	0.34	4.53	4.53	0.55603	.	0.064974	0.64402	D	0.000010	T	0.64114	0.2569	M	0.92459	3.31	0.80722	D	1	B;B	0.32031	0.319;0.352	B;B	0.34301	0.179;0.073	T	0.72431	-0.4296	10	0.72032	D	0.01	0.2163	13.6829	0.62496	0.0:0.0:1.0:0.0	.	42;42	B4DH24;P31150	.;GDIA_HUMAN	K	42	ENSP00000394071:E42K	ENSP00000358756:E42K	E	+	1	0	GDI1	153320141	1.000000	0.71417	0.906000	0.35671	0.984000	0.73092	9.569000	0.98170	2.091000	0.63221	0.529000	0.55759	GAG		0.617	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		A	153666947	G	A	153666947	3	1	164	1	0	0	0	0	1	0	0	0	6320	1059	37	2	130	2	GDI1	23	153666947	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	34256072	153666947	1603613	90	11683											
NBPF1	55672	broad.mit.edu	37	chr1	16893838	16893838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcatccagcagctccCtgctgagcctggaacagtgg	7	10	10	14	0	1	1	1	1	1	0	4	2	3	2	3	2	5	3	3	2	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:16893838C>T	ENST00000430580.2	-	25	3562	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	NBPF1_ENST00000432949.1_Silent_p.Q295Q|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	892	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGCAGCTCCCTGCTGAGCCT	0.473																																						uc009vos.1																			0											c.(2674-2676)aGg>aAg		Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							259	237	244					1																	16893838		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893838C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2675G>A	1.37:g.16893838C>T	ENSP00000474456:p.Arg892Lys					NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K	p.R892K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	24	3563	-			892			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2675G>A																																																																																					0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		T	16893838	C	T	16893838	3	4	165	1	0	0	0	0	1	0	0	0	10192	681	24	3	769	3	NBPF1	1	16893838	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		16893838	232356783	1	11684											
PLK3	1263	broad.mit.edu	37	chr1	45271002	45271002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgctgctgcagtgggTcaagacggatcaggctctcc	6	9	13	13	1	3	1	2	0	1	1	4	2	3	2	2	3	3	4	2	3	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:45271002T>C	ENST00000372201.4	+	14	1939	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	567	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTGGGTCAAGACGGAT	0.602																																						uc001cmn.3																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1699-1701)gTc>gCc		Homo sapiens polo-like kinase 3 (PLK3), mRNA.							185	144	158					1																	45271002		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271002T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1700T>C	1.37:g.45271002T>C	ENSP00000361275:p.Val567Ala						p.V567A	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			13	1800	+	Acute lymphoblastic leukemia(166;0.155)		567			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1700T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459282	0.63401	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.32272	1.46	5.83	4.71	0.59529	POLO box duplicated domain (1);	.	.	.	.	T	0.28962	0.0719	L	0.51422	1.61	0.58432	D	0.999992	B	0.24258	0.1	B	0.22152	0.038	T	0.05835	-1.0861	9	0.62326	D	0.03	-21.3511	10.8624	0.46833	0.0:0.0732:0.0:0.9268	.	567	Q9H4B4	PLK3_HUMAN	A	567;542	ENSP00000361275:V567A	ENSP00000361275:V567A	V	+	2	0	PLK3	45043589	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.111000	0.64628	1.040000	0.40099	0.533000	0.62120	GTC		0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		C	45271002	T	C	45271002	3	2	165	1	0	0	0	0	1	0	0	0	12097	1667	58	4	1754	4	PLK3	1	45271002	Missense_Mutation	SNP	T	TCGA-19-5952-01A-11D-1696-08	28377164	45271002	203979619	2	11685											
LGALS8	3964	broad.mit.edu	37	chr1	236700824	236700824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtttgttggcaccattcctGatcagctggatcctggaact	7	13	10	11	1	1	1	1	1	0	0	3	3	3	3	3	3	2	4	3	3	1	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:236700824G>A	ENST00000366584.4	+	3	639	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LGALS8_ENST00000527974.1_Missense_Mutation_p.D25N|LGALS8_ENST00000416919.2_Missense_Mutation_p.D25N|LGALS8_ENST00000525042.1_Missense_Mutation_p.D25N|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.D25N|LGALS8_ENST00000341872.6_Missense_Mutation_p.D25N|LGALS8_ENST00000323938.6_Missense_Mutation_p.D25N|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000450372.2_Missense_Mutation_p.D25N|LGALS8_ENST00000352231.2_Missense_Mutation_p.D25N|LGALS8_ENST00000526589.1_Missense_Mutation_p.D25N	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	25	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCATTCCTGATCAGCTGGA	0.393																																						uc001hxz.2																			0		p.P24P(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(73-75)Gat>Aat		Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.							117	97	104					1																	236700824		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236700824G>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.73G>A	1.37:g.236700824G>A	ENSP00000355543:p.Asp25Asn					LGALS8_uc001hxw.2_Missense_Mutation_p.D25N|LGALS8_uc001hxy.2_Missense_Mutation_p.D25N|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.D25N|LGALS8_uc001hyc.2_Missense_Mutation_p.D25N	p.D25N	NM_201543	NP_963838	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		3	454	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	25			Galectin 1.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.73G>A	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438188	0.62955	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000529489;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11169	3.48;3.48;3.48;3.48;3.48;3.48;3.48;2.8;3.48;3.48;3.48;3.48;3.48;2.8;3.48;3.48	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.167498	0.51477	D	0.000095	T	0.07954	0.0199	N	0.05510	-0.035	0.33947	D	0.644011	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18587	-1.0332	10	0.49607	T	0.09	-4.2483	19.4714	0.94965	0.0:0.0:1.0:0.0	.	25;25;25	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	N	25	ENSP00000435632:D25N;ENSP00000405504:D25N;ENSP00000431398:D25N;ENSP00000398630:D25N;ENSP00000309576:D25N;ENSP00000385999:D25N;ENSP00000435460:D25N;ENSP00000437007:D25N;ENSP00000342139:D25N;ENSP00000408657:D25N;ENSP00000355543:D25N;ENSP00000238181:D25N;ENSP00000410843:D25N;ENSP00000434860:D25N;ENSP00000437040:D25N;ENSP00000431884:D25N	ENSP00000238181:D25N	D	+	1	0	LGALS8	234767447	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.606000	0.61126	2.837000	0.97791	0.591000	0.81541	GAT		0.393	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		A	236700824	G	A	236700824	3	1	165	1	0	0	0	0	1	0	0	0	8747	1290	45	3	79	3	LGALS8	1	236700824	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	191429822	236700824	12549797	3	11686											
GPR17	2840	broad.mit.edu	37	chr2	128408657	128408657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctacctcaacatgtaCgccagcatctacttcctcac	9	12	3	17	1	5	0	2	0	3	0	6	0	6	0	3	0	5	2	3	0	4	5	rs61749508		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:128408657C>T	ENST00000272644.3	+	3	506	c.432C>T	c.(430-432)taC>taT	p.Y144Y	LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000393018.3_Silent_p.Y144Y|GPR17_ENST00000544369.1_Silent_p.Y144Y|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	144					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAACATGTACGCCAGCATCT	0.602													C|||	1	0.000199681	0	0	5008	,	,		18263	0.001		0	False		,,,				2504	0					uc010yzn.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(430-432)taC>taT		Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.							118	100	106					2																	128408657		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408657C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.432C>T	2.37:g.128408657C>T						LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.Y144Y|GPR17_uc010yzo.2_Silent_p.Y116Y|GPR17_uc002tpd.3_Silent_p.Y116Y	p.Y144Y	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	3	1043	+	Colorectal(110;0.1)	Ovarian(717;0.15)	144					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.432C>T	CCDS2148.1																																																																																				0.602	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			T	128408657	C	T	128408657	2	4	165	1	0	0	0	0	0	0	0	1	6667	547	19	1		1	GPR17	2	128408657	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		128408657	114790716	4	11687											
TTN	7273	broad.mit.edu	37	chr2	179548796	179548796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctgggacagctctcttCggttcctctggcactttaaa	6	15	8	12	1	4	0	0	0	4	0	7	1	5	1	1	3	1	3	1	3	2	5	rs368838709		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:179548796C>T	ENST00000591111.1	-	131	32009	c.31785G>A	c.(31783-31785)ccG>ccA	p.P10595P	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P9668P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.P10912P|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTCTCTTCGGTTCCTCTG	0.368																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29002-29004)ccG>ccA		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							80	79	79					2																	179548796		1810	4071	5881	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179548796C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31785G>A	2.37:g.179548796C>T						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	p.P9668P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		129	29229	-			10595			Ig-like 78.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.29004G>A																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179548796	C	T	179548796	2	4	165	1	0	0	0	0	0	0	0	1	16732	871	31	2		2	TTN	2	179548796	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	51140139	179548796	63650577	5	11688											
ACCN4	55515	broad.mit.edu	37	chr2	220379838	220379838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcattcggcactcagcgatgCcgacatcttccacctggcca	8	8	9	16	3	2	0	1	0	1	0	4	2	3	0	4	2	2	2	4	2	0	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:220379838C>T	ENST00000347842.3	+	1	787	c.773C>T	c.(772-774)gCc>gTc	p.A258V	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.A258V	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	258					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CTCAGCGATGCCGACATCTTC	0.657																																						uc002vlz.3																			0											c.(772-774)gCc>gTc		Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.							50	43	45					2																	220379838		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379838C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.773C>T	2.37:g.220379838C>T	ENSP00000326627:p.Ala258Val					ASIC4_uc010fwi.2_Missense_Mutation_p.A258V|ASIC4_uc010fwj.2_Missense_Mutation_p.A258V|ASIC4_uc002vly.2_Missense_Mutation_p.A258V|ASIC4_uc002vma.3_Missense_Mutation_p.A258V|ASIC4_uc002vmb.3_5'Flank	p.A258V	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN			0	947	+			258					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.773C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337837	0.60963	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.61980	0.06;0.06	4.69	4.69	0.59074	.	0.169173	0.37955	N	0.001870	T	0.64204	0.2577	L	0.45137	1.4	0.51482	D	0.999924	P;P;D	0.61697	0.948;0.928;0.99	P;P;P	0.54965	0.765;0.681;0.723	T	0.60632	-0.7225	10	0.30078	T	0.28	-13.9006	12.533	0.56126	0.1666:0.8334:0.0:0.0	.	258;258;258	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	V	258	ENSP00000326627:A258V;ENSP00000350786:A258V	ENSP00000326627:A258V	A	+	2	0	ACCN4	220088082	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.717000	0.54911	2.431000	0.82371	0.655000	0.94253	GCC		0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		T	220379838	C	T	220379838	3	4	165	1	0	0	0	0	1	0	0	0	131	739	26	3	775	3	ACCN4	2	220379838	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	40831042	220379838	22819535	6	11689											
CX3CR1	1524	broad.mit.edu	37	chr3	39307959	39307959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcctcagccaaatcatcGtactcaaagttttctgtcac	11	11	6	13	1	5	0	4	0	1	0	6	0	5	0	2	1	2	2	2	1	3	3	rs550232627		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:39307959G>A	ENST00000541347.1	-	2	281	c.42C>T	c.(40-42)taC>taT	p.Y14Y	CX3CR1_ENST00000542107.1_Silent_p.Y14Y|CX3CR1_ENST00000358309.3_Silent_p.Y46Y|CX3CR1_ENST00000399220.2_Silent_p.Y14Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	14					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAAATCATCGTACTCAAAGT	0.443																																						uc021wwc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(136-138)taC>taT		Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.							64	64	64					3																	39307959		1926	4145	6071	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307959G>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.42C>T	3.37:g.39307959G>A						CX3CR1_uc021wwa.1_Silent_p.Y14Y|CX3CR1_uc021wwb.1_Silent_p.Y14Y|CX3CR1_uc003cjl.3_Silent_p.Y14Y|CX3CR1_uc021wwd.1_Silent_p.Y14Y	p.Y46Y	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	1	178	-			14					A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.138C>T	CCDS43069.1																																																																																				0.443	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		A	39307959	G	A	39307959	2	1	165	1	0	0	0	0	0	0	0	1	4075	1140	40	1		1	CX3CR1	3	39307959	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		39307959	158714471	7	11690											
WDR82	80335	broad.mit.edu	37	chr3	52292683	52292683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagacatggatcttgcCatcctctgaacctaaagagg	12	10	8	11	0	2	3	0	1	2	2	4	4	4	4	4	2	2	0	4	2	3	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:52292683C>T	ENST00000296490.3	-	8	1062	c.781G>A	c.(781-783)Ggc>Agc	p.G261S		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	261					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGATCTTGCCATCCTCTGAA	0.438																																						uc003ddl.2																			0											c.(781-783)Ggc>Agc		Homo sapiens WD repeat domain 82 (WDR82), mRNA.							113	105	107					3																	52292683		1947	4143	6090	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52292683C>T	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.781G>A	3.37:g.52292683C>T	ENSP00000296490:p.Gly261Ser					WDR82_uc003ddk.2_Missense_Mutation_p.G186S	p.G261S	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	7	1063	-			261					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.781G>A	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	36	5.694579	0.96793	.	.	ENSG00000164091	ENST00000296490	T	0.64618	-0.11	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	L	0.52206	1.635	0.80722	D	1	D	0.53462	0.96	P	0.54924	0.764	T	0.66464	-0.5917	10	0.35671	T	0.21	-21.6384	20.1957	0.98242	0.0:1.0:0.0:0.0	.	261	Q6UXN9	WDR82_HUMAN	S	261	ENSP00000296490:G261S	ENSP00000296490:G261S	G	-	1	0	WDR82	52267723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.581000	0.82535	2.780000	0.95670	0.563000	0.77884	GGC		0.438	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		T	52292683	C	T	52292683	3	4	165	1	0	0	0	0	1	0	0	0	17328	594	21	3	168	3	WDR82	3	52292683	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	12984724	52292683	145729747	8	11691											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.3																			1	Substitution - coding silent(1)	p.E170E(2)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A							p.E170E	NM_007117	NP_009048	P20396	TRH_HUMAN			2	1071	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		A	129695840	G	A	129695840	2	1	165	1	0	0	0	0	0	0	0	1	16475	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	77403157	129695840	68326590	9	11692											
GFM1	85476	broad.mit.edu	37	chr3	158378683	158378683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgaggaagtatatgcCggagacatctgtgcattgtt	10	13	13	5	1	1	2	0	1	1	1	1	5	1	3	1	2	2	4	1	2	3	5	rs575709528		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:158378683C>T	ENST00000486715.1	+	10	1599	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	GFM1_ENST00000478576.1_Silent_p.A414A|GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000264263.5_Silent_p.A433A	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAGTATATGCCGGAGACATCT	0.353																																						uc003fce.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(1240-1242)gcC>gcT		Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.							158	156	157					3																	158378683		2203	4300	6503	SO:0001819	synonymous_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158378683C>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1242C>T	3.37:g.158378683C>T						GFM1_uc003fcd.3_Silent_p.A414A|GFM1_uc003fcg.3_Silent_p.A345A	p.A414A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		9	1349	+			414						Silent	SNP	ENST00000486715.1	37	c.1242C>T	CCDS33885.1																																																																																				0.353	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		T	158378683	C	T	158378683	2	4	165	1	0	0	0	0	0	0	0	1	6341	639	23	2		2	GFM1	3	158378683	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	28682843	158378683	39643747	10	11693											
FGG	2266	broad.mit.edu	37	chr4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacttgtcactaggatcatCgccaaaatcaaagccatcaa	17	8	5	11	1	4	0	4	0	0	0	5	1	4	1	2	1	2	0	2	1	6	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr4:155528019C>T	ENST00000336098.3	-	8	1005	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_ENST00000407946.1_Missense_Mutation_p.D331N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N|FGG_ENST00000404648.3_Missense_Mutation_p.D323N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	323	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(967-969)Gat>Aat		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						245	216	226					4																	155528019		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528019C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.967G>A	4.37:g.155528019C>T	ENSP00000336829:p.Asp323Asn					FGG_uc003iog.3_Missense_Mutation_p.D323N	p.D323N	NM_021870	NP_068656	P02679	FIBG_HUMAN			7	1108	-	all_hematologic(180;0.215)	Renal(120;0.0458)	323			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.967G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075013	0.76415	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.135793	0.64402	D	0.000003	D	0.98469	0.9490	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.967;0.987;0.987;0.987;0.978	D	0.98387	1.0561	10	0.46703	T	0.11	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	220;331;323;331;323	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	323;331;323;331	ENSP00000384860:D323N;ENSP00000384101:D331N;ENSP00000336829:D323N;ENSP00000384552:D331N	ENSP00000336829:D323N	D	-	1	0	FGG	155747469	1.000000	0.71417	0.984000	0.44739	0.495000	0.33615	4.731000	0.62022	2.727000	0.93392	0.650000	0.86243	GAT		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		T	155528019	C	T	155528019	3	4	165	1	0	0	0	0	1	0	0	0	5870	884	31	2	421	2	FGG	4	155528019	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		155528019	35626257	11	11694											
IRX4	50805	broad.mit.edu	37	chr5	1880903	1880903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcggctggtgccaGgcccccatgcgcagatcccg	5	4	16	16	4	0	1	0	0	0	1	1	1	1	1	4	5	3	3	4	5	0	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:1880903G>A	ENST00000505790.1	-	4	799	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	IRX4_ENST00000513692.1_Silent_p.L115L|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Silent_p.L115L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	115					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCTGGTGCCAGGCCCCCATGC	0.622																																						uc003jcz.2																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(343-345)Ctg>Ttg		Homo sapiens iroquois homeobox 4 (IRX4), mRNA.							68	73	71					5																	1880903		2203	4300	6503	SO:0001819	synonymous_variant	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1880903G>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.343C>T	5.37:g.1880903G>A						IRX4_uc011cmf.1_5'UTR	p.L115L	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	2	462	-			115					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	c.343C>T	CCDS3867.1																																																																																				0.622	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		A	1880903	G	A	1880903	2	1	165	1	0	0	0	0	0	0	0	1	7846	991	35	3		3	IRX4	5	1880903	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		1880903	179034357	12	11695											
TRPC7	57113	broad.mit.edu	37	chr5	135692954	135692954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgctcctcctcgggcGtcagactggtgcccttctcg	4	9	13	15	4	2	1	1	0	1	1	6	2	4	2	3	3	2	1	3	3	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:135692954G>A	ENST00000513104.1	-	2	404	c.122C>T	c.(121-123)aCg>aTg	p.T41M	TRPC7_ENST00000426057.2_Missense_Mutation_p.T41M|TRPC7_ENST00000355180.3_Missense_Mutation_p.T41M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	41					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCTCGGGCGTCAGACTGGT	0.602																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(121-123)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							81	90	87					5																	135692954		2105	4248	6353	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692954G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.122C>T	5.37:g.135692954G>A	ENSP00000426070:p.Thr41Met					TRPC7_uc010jef.2_Missense_Mutation_p.T32M|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.T41M|TRPC7_uc010jei.2_Missense_Mutation_p.T41M	p.T41M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	344	-			41					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.122C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546444	0.86022	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79247	-1.08;-1.25;-1.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	L	0.48642	1.525	0.41798	D	0.989908	D;D;D;D	0.65815	0.995;0.978;0.991;0.991	P;P;P;P	0.56127	0.63;0.738;0.792;0.714	D	0.84463	0.0595	10	0.87932	D	0	-17.8157	18.9316	0.92568	0.0:0.0:1.0:0.0	.	41;41;41;41	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	41	ENSP00000347312:T41M;ENSP00000441628:T41M;ENSP00000426070:T41M	ENSP00000265193:T41M	T	-	2	0	TRPC7	135720853	1.000000	0.71417	0.962000	0.40283	0.952000	0.60782	7.831000	0.86748	2.691000	0.91804	0.655000	0.94253	ACG		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692954	G	A	135692954	3	1	165	1	0	0	0	0	1	0	0	0	16581	1145	40	1	2510	1	TRPC7	5	135692954	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	133812051	135692954	45222306	13	11696											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754770	140754770	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctttttcaagtgttcgatCgagactctggcctgaatggc	7	13	10	11	2	2	2	1	1	1	1	4	4	2	2	2	2	0	1	2	2	2	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:140754770C>T	ENST00000517434.1	+	1	1120	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTTCGATCGAGACTCTGG	0.428																																						uc003ljy.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1120-1122)Cga>Tga		Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.							81	82	82					5																	140754770		1906	4133	6039	SO:0001587	stop_gained	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754770C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1120C>T	5.37:g.140754770C>T	ENSP00000429601:p.Arg374*					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.R374*	p.R374*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1120	+			377			Cadherin 4.		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	ENST00000517434.1	37	c.1120C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.430445	0.43122	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	2.19	0.27852	.	0.264887	0.18545	U	0.138098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0177	0.36179	0.4868:0.4392:0.0:0.0739	.	.	.	.	X	374	.	ENSP00000429601:R374X	R	+	1	2	PCDHGA6	140734954	0.000000	0.05858	0.774000	0.31636	0.122000	0.20287	-3.187000	0.00566	0.827000	0.34685	0.655000	0.94253	CGA		0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		T	140754770	C	T	140754770	4	4	165	1	0	0	0	0	0	1	0	0	11558	876	31	2	1122	2	PCDHGA6	5	140754770	Nonsense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	5061816	140754770	40160490	14	11697											
FBXO38	81545	broad.mit.edu	37	chr5	147807296	147807296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggatggtacgagatcCgccttttcctttaggactct	6	12	11	12	3	1	1	0	0	1	1	3	4	3	3	4	4	1	1	4	4	2	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:147807296C>T	ENST00000340253.5	+	15	2607	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	813					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACGAGATCCGCCTTTTCCT	0.567																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2437-2439)tcC>tcT		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							50	47	48					5																	147807296		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147807296C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2439C>T	5.37:g.147807296C>T						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	p.S813S	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2559	+			813					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.2439C>T																																																																																					0.567	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		T	147807296	C	T	147807296	2	4	165	1	0	0	0	0	0	0	0	1	5746	639	23	2		2	FBXO38	5	147807296	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	7052526	147807296	33107964	15	11698											
FAM54A	113115	broad.mit.edu	37	chr6	136554632	136554632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgggtctaccgccaGgtgacctattttttaaaaaa	13	13	8	7	1	1	2	0	2	1	0	1	2	1	2	3	2	1	0	3	2	7	6			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr6:136554632G>A	ENST00000420702.1	-	7	1264	c.875C>T	c.(874-876)cCt>cTt	p.P292L	MTFR2_ENST00000451457.2_Missense_Mutation_p.P292L	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	292					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											TCTACCGCCAGGTGACCtatt	0.318																																						uc010kgp.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11						c.(874-876)cCt>cTt		Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.							35	39	37					6																	136554632		2201	4296	6497	SO:0001583	missense	113115							g.chr6:136554632G>A	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.875C>T	6.37:g.136554632G>A	ENSP00000395232:p.Pro292Leu					FAM54A_uc003qgt.1_Missense_Mutation_p.P292L|FAM54A_uc003qgu.1_Missense_Mutation_p.P249L	p.P292L	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN		GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)	6	1265	-	Colorectal(23;0.24)		292					A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.875C>T	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239268	0.79800	.	.	ENSG00000146410	ENST00000451457;ENST00000420702	T;T	0.54866	0.55;0.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67833	-0.5568	10	0.87932	D	0	-21.8913	18.3566	0.90359	0.0:0.0:1.0:0.0	.	292	Q6P444	FA54A_HUMAN	L	292	ENSP00000407010:P292L;ENSP00000395232:P292L	ENSP00000395232:P292L	P	-	2	0	FAM54A	136596325	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.817000	0.75252	2.632000	0.89209	0.561000	0.74099	CCT		0.318	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		A	136554632	G	A	136554632	3	1	165	1	0	0	0	0	1	0	0	0	5582	1000	35	3	290	3	FAM54A	6	136554632	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		136554632	34560435	16	11699											
SDK1	221935	broad.mit.edu	37	chr7	3991529	3991529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttttgaaccggccagggCgacggcctttcttttcatca	6	12	10	13	4	3	1	2	1	1	0	3	2	3	1	3	3	1	1	3	3	1	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:3991529C>T	ENST00000404826.2	+	7	1266	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	SDK1_ENST00000389531.3_Missense_Mutation_p.A376V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	376	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGGCCAGGGCGACGGCCTTT	0.577																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1126-1128)gCg>gTg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							29	32	31					7																	3991529		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3991529C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1127C>T	7.37:g.3991529C>T	ENSP00000385899:p.Ala376Val						p.A376V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	6	1266	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	376			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1127C>T	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.89|17.89	3.498583|3.498583	0.64298|0.64298	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000404826;ENST00000389531|ENST00000426596	T;T|.	0.29917|.	1.55;1.55|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.077913|.	0.49916|.	D|.	0.000133|.	D|.	0.83124|.	0.5186|.	M|M	0.88105|0.88105	2.93|2.93	0.49299|0.49299	D|D	0.999773|0.999773	D|.	0.56035|.	0.974|.	B|.	0.41894|.	0.369|.	D|.	0.86165|.	0.1596|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.5463|16.5463	0.84446|0.84446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	376|.	Q7Z5N4|.	SDK1_HUMAN|.	V|X	376|95	ENSP00000385899:A376V;ENSP00000374182:A376V|.	ENSP00000374182:A376V|.	A|R	+|+	2|1	0|2	SDK1|SDK1	3958055|3958055	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.030000|0.030000	0.12068|0.12068	5.850000|5.850000	0.69473|0.69473	2.410000|2.410000	0.81850|0.81850	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	3991529	C	T	3991529	3	4	165	1	0	0	0	0	1	0	0	0	13968	768	27	1	1153	1	SDK1	7	3991529	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		3991529	155147134	17	11700											
CALCR	799	broad.mit.edu	37	chr7	93055883	93055883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaattgggcccattggcGcttcacggtggtttggacct	5	14	13	9	2	1	1	1	1	0	0	1	2	1	2	2	5	0	2	2	5	1	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:93055883G>A	ENST00000394441.1	-	13	1525	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	CALCR_ENST00000359558.2_Missense_Mutation_p.R438C|CALCR_ENST00000426151.1_Missense_Mutation_p.R404C|CALCR_ENST00000360249.4_Missense_Mutation_p.R420C|CALCR_ENST00000421592.1_Missense_Mutation_p.R420C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	438					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R438C(1)|p.R404C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCCCATTGGCGCTTCACGGTG	0.537																																						uc003umv.2																			2	Substitution - Missense(2)	p.R438C(1)|p.R404C(1)	endometrium(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1312-1314)Cgc>Tgc		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						33	37	35					7																	93055883		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055883G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1210C>T	7.37:g.93055883G>A	ENSP00000377959:p.Arg404Cys					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	p.R438C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1612	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		420					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1312C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805196	0.50315	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.78	3.83	0.44106	.	.	.	.	.	T	0.78483	0.4290	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.97110	1.0;0.679	T	0.80336	-0.1425	9	0.87932	D	0	.	9.7877	0.40686	0.0:0.0:0.7949:0.2051	.	438;404	F5H605;A4D1G6	.;.	C	438;420;420;404;404	ENSP00000352561:R438C;ENSP00000353385:R420C;ENSP00000399552:R420C;ENSP00000377959:R404C;ENSP00000389295:R404C	ENSP00000352561:R438C	R	-	1	0	CALCR	92893819	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	2.210000	0.42816	2.669000	0.90835	0.585000	0.79938	CGC		0.537	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93055883	G	A	93055883	3	1	165	1	0	0	0	0	1	0	0	0	2579	1087	38	1	218	1	CALCR	7	93055883	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	89064354	93055883	66082780	18	11701											
KIAA1549	57670	broad.mit.edu	37	chr7	138593736	138593736	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcattcagtgatattctcaCctgcaccgtgaggttatacg	9	13	9	10	2	2	2	2	2	1	0	3	2	2	2	2	1	3	3	2	1	3	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:138593736C>A	ENST00000422774.1	-	5	3325		c.e5+1		KIAA1549_ENST00000440172.1_Splice_Site|KIAA1549_ENST00000242365.4_Splice_Site			Q9HCM3	K1549_HUMAN	KIAA1549							integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATATTCTCACCTGCACCGTG	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.e5+1		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							93	93	93					7																	138593736		1943	4143	6086	SO:0001630	splice_region_variant	57670					integral to membrane		g.chr7:138593736C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3276+1G>T	7.37:g.138593736C>A						KIAA1549_uc011kqj.2_Splice_Site_p.Q1092_splice	p.Q1092_splice	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN			5	3325	-			1092					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Splice_Site	SNP	ENST00000422774.1	37	c.3276_splice	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370678	0.61624	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1549	138244276	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.249000	0.78278	2.603000	0.88011	0.585000	0.79938	.		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		Intron	A	138593736	C	A	138593736	5	1	165	1	0	0	0	0	0	0	1	0	8244	521	18	5	2639	5	KIAA1549	7	138593736	Splice_Site	SNP	C	TCGA-19-5952-01A-11D-1696-08	45537853	138593736	20544927	19	11702											
PRKAG2	51422	broad.mit.edu	37	chr7	151261177	151261177	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcacctcagctcttactAttctgtccacgatggtctcc	6	14	6	15	1	5	0	2	0	4	0	8	1	6	0	3	1	2	1	3	1	2	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:151261177A>T	ENST00000287878.4	-	14	2075	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	PRKAG2_ENST00000433631.2_Missense_Mutation_p.I399K|PRKAG2_ENST00000418337.2_Missense_Mutation_p.I283K|PRKAG2_ENST00000492843.1_Missense_Mutation_p.I400K|PRKAG2_ENST00000392801.2_Missense_Mutation_p.I480K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	524	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AGCTCTTACTATTCTGTCCAC	0.517																																						uc003wkk.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(1570-1572)aTa>aAa		Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.							211	194	200					7																	151261177		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151261177A>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1571T>A	7.37:g.151261177A>T	ENSP00000287878:p.Ile524Lys					PRKAG2_uc003wki.3_Missense_Mutation_p.I283K|PRKAG2_uc011kvl.2_Missense_Mutation_p.I399K|PRKAG2_uc003wkj.3_Missense_Mutation_p.I480K|PRKAG2_uc003wkl.2_Missense_Mutation_p.I72K	p.I524K	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	13	2182	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	524			CBS 4.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.1571T>A	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121378	0.77436	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.95	5.95	0.96441	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	M	0.92317	3.295	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.997	D;D;D	0.71656	0.968;0.974;0.953	D	0.97709	1.0189	10	0.87932	D	0	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	399;57;524	B7Z6X8;Q5H9N7;Q9UGJ0	.;.;AAKG2_HUMAN	K	283;524;400;399;480	ENSP00000387386:I283K;ENSP00000287878:I524K;ENSP00000419577:I400K;ENSP00000406544:I399K;ENSP00000376549:I480K	ENSP00000287878:I524K	I	-	2	0	PRKAG2	150892110	1.000000	0.71417	0.892000	0.35008	0.412000	0.31113	9.097000	0.94193	2.279000	0.76181	0.533000	0.62120	ATA		0.517	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		T	151261177	A	T	151261177	3	4	165	1	0	0	0	0	1	0	0	0	12501	449	16	5	150	5	PRKAG2	7	151261177	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	12667441	151261177	7877486	20	11703											
FRMD3	257019	broad.mit.edu	37	chr9	85913683	85913683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcacctcaggaggctcCctctggatcttggaactggc	6	10	12	13	0	3	0	1	0	2	0	4	3	4	3	2	5	2	2	2	5	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:85913683C>T	ENST00000304195.3	-	12	1256	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	FRMD3_ENST00000376434.1_Silent_p.R156R|FRMD3_ENST00000376438.1_Silent_p.R350R	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	350						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGGAGGCTCCCTCTGGATCT	0.493																																						uc004ams.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1048-1050)agG>agA		Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.							82	82	82					9																	85913683		1967	4163	6130	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85913683C>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1050G>A	9.37:g.85913683C>T						FRMD3_uc004amr.1_Silent_p.R350R|FRMD3_uc022bja.1_Silent_p.R306R|FRMD3_uc022biz.1_Silent_p.R156R	p.R350R	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			11	1252	-			350					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.1050G>A	CCDS43840.1																																																																																				0.493	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		T	85913683	C	T	85913683	2	4	165	1	0	0	0	0	0	0	0	1	6050	622	22	3		3	FRMD3	9	85913683	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		85913683	55299748	21	11704											
LRRC8A	56262	broad.mit.edu	37	chr9	131669841	131669841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggtgcttctgcacaCgctcatcttcctggcctgca	5	12	8	16	1	3	0	1	0	2	0	4	0	4	0	3	2	4	4	3	2	1	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:131669841C>T	ENST00000259324.5	+	3	921	c.398C>T	c.(397-399)aCg>aTg	p.T133M	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T133M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T133M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	133					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGCACACGCTCATCTTC	0.557																																						uc004bwl.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(397-399)aCg>aTg		Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.							114	107	109					9																	131669841		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669841C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.398C>T	9.37:g.131669841C>T	ENSP00000259324:p.Thr133Met					LRRC8A_uc010myp.3_Missense_Mutation_p.T133M|LRRC8A_uc010myq.3_Missense_Mutation_p.T133M	p.T133M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			2	652	+			133					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.398C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401023	0.62288	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.36878	1.23;1.23;1.23	5.17	5.17	0.71159	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59742	-0.7397	10	0.87932	D	0	.	17.6579	0.88183	0.0:1.0:0.0:0.0	.	133	Q8IWT6	LRC8A_HUMAN	M	133	ENSP00000361682:T133M;ENSP00000361680:T133M;ENSP00000259324:T133M	ENSP00000259324:T133M	T	+	2	0	LRRC8A	130709662	1.000000	0.71417	0.985000	0.45067	0.977000	0.68977	7.818000	0.86416	2.421000	0.82119	0.563000	0.77884	ACG		0.557	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		T	131669841	C	T	131669841	3	4	165	1	0	0	0	0	1	0	0	0	9021	536	19	1	400	1	LRRC8A	9	131669841	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	45756158	131669841	9543590	22	11705											
APBB1IP	54518	broad.mit.edu	37	chr10	26849669	26849672	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															ctctccccagtatgggaagaCtctctatgataactaccagc																								rs145279460		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:26849669_26849672delCTCT	ENST00000376236.4	+	13	1720_1723	c.1265_1268delCTCT	c.(1264-1269)actctcfs	p.TL422fs		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	422					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATGGGAAGACTCTCTATGATAAC	0.461																																						uc001iss.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1264-1269)actctcfs		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.																																				SO:0001589	frameshift_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26849669_26849672delCTCT	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1265_1268delCTCT	10.37:g.26849669_26849672delCTCT	ENSP00000365411:p.Thr422fs						p.T422fs	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			12	1586_1589	+			422					Q8IWS8|Q8IYL7|Q8IZZ7	Frame_Shift_Del	DEL	ENST00000376236.4	37	c.1265_1268delCTCT	CCDS31167.1																																																																																				0.461	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		-	26849672	CTCT	-	26849669	7	5	165	1	0	1	0	1	0	0	0	0	760	565	20	0	1307	0	APBB1IP	10	26849669	Frame_Shift_Del	DEL	CTCT	TCGA-19-5952-01A-11D-1696-08		26849669	108685078	23	11706											
SYT15	83849	broad.mit.edu	37	chr10	46965845	46965845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgtccacgtggtagacgGagaacttcagcaccctctgg	8	8	12	13	2	2	2	1	0	1	2	3	3	3	2	3	3	2	2	3	3	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:46965845G>T	ENST00000374321.4	-	5	758	c.692C>A	c.(691-693)tCc>tAc	p.S231Y	SYT15_ENST00000374323.4_Missense_Mutation_p.S284Y|SYT15_ENST00000503753.1_Missense_Mutation_p.S231Y|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Missense_Mutation_p.S231Y	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	231	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTGGTAGACGGAGAACTTCAG	0.622																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(691-693)tCc>tAc		Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.							45	49	48					10																	46965845		2120	4248	6368	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46965845G>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.692C>A	10.37:g.46965845G>T	ENSP00000363441:p.Ser231Tyr					SYT15_uc001jdz.2_Missense_Mutation_p.S231Y|SYT15_uc001jeb.3_Missense_Mutation_p.S109Y|SYT15_uc010qfp.1_Non-coding_Transcript	p.S231Y	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			4	845	-			231			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.692C>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.861548	0.51482	.	.	ENSG00000204176	ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.13	5.13	0.70059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.141246	0.51477	D	0.000086	D	0.83083	0.5177	M	0.85197	2.74	0.39970	D	0.974787	D;D	0.76494	0.999;0.999	D;D	0.74348	0.982;0.983	D	0.85787	0.1365	10	0.54805	T	0.06	.	16.4476	0.83942	0.0:0.0:1.0:0.0	.	231;231	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	Y	231;21;231;231;70;284;231;115	ENSP00000363448:S21Y;ENSP00000363445:S231Y;ENSP00000427607:S231Y;ENSP00000363443:S284Y;ENSP00000363441:S231Y;ENSP00000424803:S115Y	ENSP00000363441:S231Y	S	-	2	0	SYT15	46385851	0.981000	0.34729	0.660000	0.29694	0.280000	0.26924	1.916000	0.39986	2.550000	0.86006	0.561000	0.74099	TCC		0.622	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		T	46965845	G	T	46965845	3	4	165	1	0	0	0	0	1	0	0	0	15468	1174	41	5	643	5	SYT15	10	46965845	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	20116176	46965845	88568902	24	11707											
PTEN	5728	broad.mit.edu	37	chr10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggaaagggacgaactgGtgtaatgatatgtgcatatt	13	11	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	3	3	0	3	5	4	rs121909241		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.G132D(9)|p.?(5)|p.R55fs*1(5)|p.G132V(3)|p.G132S(3)|p.T131fs*3(3)|p.A121_F145del(2)|p.Y27fs*1(2)|p.T131fs*42(2)|p.Y27_N212>Y(2)|p.T131fs*50(1)|p.T131I(1)|p.G132fs*2(1)|p.R130fs*2(1)|p.T131N(1)|p.T131P(1)|p.T131A(1)|p.G132R(1)|p.F56fs*2(1)|p.K128fs*47(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241	c.(394-396)gGt>gAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							137	127	130					10																	89692911		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692911G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.395G>A	10.37:g.89692911G>A	ENSP00000361021:p.Gly132Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G132D	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1427	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.395G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103845	0.94245	.	.	ENSG00000171862	ENST00000371953	D	0.99563	-6.17	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	9	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	D	132	ENSP00000361021:G132D	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692911	G	A	89692911	3	1	165	1	0	0	0	0	1	0	0	0	12738	1261	44	3	413	3	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	42727066	89692911	45841836	25	11708											
PSD	5662	broad.mit.edu	37	chr10	104171572	104171572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaggccagctccttcagaaAcaccctggagaaggggcaag	13	5	12	11	0	1	2	1	0	0	2	2	3	2	2	3	4	2	2	3	4	4	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:104171572A>G	ENST00000020673.5	-	8	2360	c.1834T>C	c.(1834-1836)Ttt>Ctt	p.F612L	PSD_ENST00000406432.1_Missense_Mutation_p.F612L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	612	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCTTCAGAAACACCCTGGAG	0.582																																						uc001kvg.1																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1834-1836)Ttt>Ctt		Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.							42	32	36					10																	104171572		2202	4300	6502	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104171572A>G	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1834T>C	10.37:g.104171572A>G	ENSP00000020673:p.Phe612Leu					PSD_uc001kvh.1_Missense_Mutation_p.F233L|PSD_uc009xxd.1_Missense_Mutation_p.F612L	p.F612L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	7	2361	-			612			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1834T>C	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031202	0.93575	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.55234	0.53;0.53	5.28	5.28	0.74379	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	L	0.59912	1.85	0.46521	D	0.999089	P	0.46578	0.88	P	0.55303	0.773	T	0.67150	-0.5743	10	0.62326	D	0.03	.	15.2116	0.73227	1.0:0.0:0.0:0.0	.	612	A5PKW4	PSD1_HUMAN	L	612;515;612	ENSP00000020673:F612L;ENSP00000384830:F612L	ENSP00000020673:F612L	F	-	1	0	PSD	104161562	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.437000	0.80417	2.012000	0.59069	0.454000	0.30748	TTT		0.582	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			G	104171572	A	G	104171572	3	3	165	1	0	0	0	0	1	0	0	0	12646	43	2	4	1280	4	PSD	10	104171572	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	14478661	104171572	31363175	26	11709											
OR8K3	219473	broad.mit.edu	37	chr11	56086192	56086192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatacacagtaatcatgtCacgaagggtatgtcaggtgc	12	10	11	8	1	3	0	3	0	0	0	3	1	3	0	0	2	2	3	0	2	5	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:56086192C>T	ENST00000312711.1	+	1	410	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S137*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTAATCATGTCACGAAGGGTA	0.413																																						uc010rjf.2																			1	Substitution - Nonsense(1)	p.S137*(2)	lung(1)	central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(409-411)tCa>tTa		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							124	118	120					11																	56086192		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086192C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.410C>T	11.37:g.56086192C>T	ENSP00000323555:p.Ser137Leu						p.S137L	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	410	+	Esophageal squamous(21;0.00448)		137					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.410C>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466103	0.43839	.	.	ENSG00000181689	ENST00000312711	T	0.41400	1.0	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.70029	0.3177	M	0.93978	3.48	0.29848	N	0.828702	D	0.58268	0.982	D	0.65010	0.931	T	0.73636	-0.3920	10	0.87932	D	0	.	13.1294	0.59373	0.0:0.7222:0.2778:0.0	.	137	Q8NH51	OR8K3_HUMAN	L	137	ENSP00000323555:S137L	ENSP00000323555:S137L	S	+	2	0	OR8K3	55842768	0.002000	0.14202	0.947000	0.38551	0.012000	0.07955	0.489000	0.22387	2.518000	0.84900	0.573000	0.79308	TCA		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		T	56086192	C	T	56086192	3	4	165	1	0	0	0	0	1	0	0	0	11244	838	29	3	412	3	OR8K3	11	56086192	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		56086192	78920324	27	11710											
OR5B3	441608	broad.mit.edu	37	chr11	58170525	58170525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacactgctgcatagcGgtcataggccattgaggcca	9	10	11	11	1	1	1	1	1	0	0	1	1	1	1	2	3	4	3	2	3	2	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:58170525G>A	ENST00000309403.2	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCATAGCGGTCATAGGCC	0.468																																						uc010rkf.2																			0		p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(358-360)Cgc>Tgc		Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.							132	117	122					11																	58170525		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170525G>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.358C>T	11.37:g.58170525G>A	ENSP00000308270:p.Arg120Cys						p.R120C	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			0	358	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.358C>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	15.22	2.767909	0.49680	.	.	ENSG00000172769	ENST00000309403	T	0.77358	-1.09	3.96	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.81302	0.4794	M	0.87617	2.895	0.43846	D	0.996438	D	0.55605	0.972	P	0.46419	0.516	D	0.83524	0.0087	10	0.72032	D	0.01	-27.9791	10.4958	0.44777	0.099:0.0:0.901:0.0	.	120	Q8NH48	OR5B3_HUMAN	C	120	ENSP00000308270:R120C	ENSP00000308270:R120C	R	-	1	0	OR5B3	57927101	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	2.271000	0.43364	1.003000	0.39130	0.585000	0.79938	CGC		0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		A	58170525	G	A	58170525	3	1	165	1	0	0	0	0	1	0	0	0	11152	1116	39	2	588	2	OR5B3	11	58170525	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	2084333	58170525	76835991	28	11711											
CLPB	81570	broad.mit.edu	37	chr11	72114088	72114088	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgacatctgcaccttctGacaacagcctaaaacaagac	15	8	5	13	0	2	3	0	2	2	1	2	3	2	3	2	0	4	1	2	0	4	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:72114088G>C	ENST00000294053.3	-	3	637	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CLPB_ENST00000340729.5_Intron|CLPB_ENST00000538039.1_Nonsense_Mutation_p.S155*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.S110*|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000445069.2_Nonsense_Mutation_p.S51*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	155					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGCACCTTCTGACAACAGCCT	0.458																																						uc001osj.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(463-465)tCa>tGa		Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.							145	116	126					11																	72114088		2200	4293	6493	SO:0001587	stop_gained	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72114088G>C	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.464C>G	11.37:g.72114088G>C	ENSP00000294053:p.Ser155*					CLPB_uc010rqx.2_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Nonsense_Mutation_p.S155*|CLPB_uc010rqz.2_Intron	p.S155*	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			2	514	-			155					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Nonsense_Mutation	SNP	ENST00000294053.3	37	c.464C>G	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278887	0.80692	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000437826;ENST00000544683;ENST00000539148	.	.	.	5.18	5.18	0.71444	.	0.208574	0.41605	D	0.000853	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.8543	11.7342	0.51755	0.0:0.0:0.8239:0.1761	.	.	.	.	X	155;155;160;110;9;9	.	ENSP00000294053:S155X	S	-	2	0	CLPB	71791736	0.158000	0.22850	1.000000	0.80357	0.572000	0.35998	0.808000	0.27154	2.529000	0.85273	0.000000	0.15137	TCA		0.458	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		C	72114088	G	C	72114088	4	2	165	1	0	0	0	0	0	1	0	0	3551	1294	45	5	1719	5	CLPB	11	72114088	Nonsense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	13943563	72114088	62892428	29	11712											
MMP1	4312	broad.mit.edu	37	chr11	102665949	102665949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgaatcgtagttatagcAtcaaaggttagcttactgtc	11	12	8	10	2	1	0	1	0	0	0	3	1	1	0	2	1	3	5	2	1	7	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:102665949A>T	ENST00000315274.6	-	6	922	c.855T>A	c.(853-855)gaT>gaA	p.D285E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	285					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TAGTTATAGCATCAAAGGTTA	0.403																																						uc001phi.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(853-855)gaT>gaA		Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.							172	152	159					11																	102665949		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102665949A>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.855T>A	11.37:g.102665949A>T	ENSP00000322788:p.Asp285Glu					LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	p.D285E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	5	998	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	285			Hemopexin-like 1.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.855T>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	a	15.15	2.747370	0.49257	.	.	ENSG00000196611	ENST00000315274	T	0.08370	3.1	5.73	2.05	0.26809	Hemopexin/matrixin (2);	0.084010	0.51477	D	0.000100	T	0.36608	0.0973	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35076	-0.9803	10	0.87932	D	0	.	10.0304	0.42096	0.806:0.0:0.194:0.0	.	285	P03956	MMP1_HUMAN	E	285	ENSP00000322788:D285E	ENSP00000322788:D285E	D	-	3	2	MMP1	102171159	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	3.250000	0.51445	0.146000	0.19002	-0.256000	0.11100	GAT		0.403	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		T	102665949	A	T	102665949	3	4	165	1	0	0	0	0	1	0	0	0	9648	214	8	5	574	5	MMP1	11	102665949	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	30551861	102665949	32340567	30	11713											
DSCAML1	57453	broad.mit.edu	37	chr11	117329509	117329509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagagcacactgctgcgtaCgccgtccccagcctgggtgt	6	8	13	14	3	0	1	0	0	0	1	1	1	1	1	4	1	5	4	4	1	2	2	rs544850403		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:117329509C>T	ENST00000321322.6	-	19	3710	c.3709G>A	c.(3709-3711)Gta>Ata	p.V1237I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V967I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1177	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCTGCGTACGCCGTCCCCA	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		19138	0		0	False		,,,				2504	0					uc001prh.1																			0		p.G1236G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3709-3711)Gta>Ata		Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.							100	80	87					11																	117329509		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117329509C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3709G>A	11.37:g.117329509C>T	ENSP00000315465:p.Val1237Ile						p.V1237I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	18	3711	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1177			Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3709G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385182	0.82792	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57436	0.4;0.4	4.22	4.22	0.49857	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72382	0.3453	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76337	-0.2996	9	0.59425	D	0.04	.	17.1572	0.86794	0.0:1.0:0.0:0.0	.	1177	Q8TD84	DSCL1_HUMAN	I	967;1237;944	ENSP00000434335:V967I;ENSP00000315465:V1237I	ENSP00000315465:V1237I	V	-	1	0	DSCAML1	116834719	1.000000	0.71417	0.970000	0.41538	0.682000	0.39822	7.640000	0.83355	2.373000	0.80994	0.561000	0.74099	GTA		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117329509	C	T	117329509	3	4	165	1	0	0	0	0	1	0	0	0	4769	536	19	1	2692	1	DSCAML1	11	117329509	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	14663560	117329509	17677007	31	11714											
KIAA1467	57613	broad.mit.edu	37	chr12	13215874	13215874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttggatgaagacggtgttCgagaccttgtggttctggcc	7	12	14	8	2	1	3	0	1	1	2	2	5	1	4	2	4	0	2	2	4	1	4	rs373297852		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:13215874C>G	ENST00000197268.8	+	5	937	c.817C>G	c.(817-819)Cga>Gga	p.R273G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	273						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACGGTGTTCGAGACCTTGT	0.448																																						uc001rbi.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(817-819)Cga>Gga		Homo sapiens KIAA1467 (KIAA1467), mRNA.		C	GLY/ARG	2,4404	4.2+/-10.8	0,2,2201	308	297	301		817	-5.2	0	12		301	0,8600		0,0,4300	no	missense	KIAA1467	NM_020853.1	125	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	benign	273/623	13215874	2,13004	2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13215874C>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.817C>G	12.37:g.13215874C>G	ENSP00000197268:p.Arg273Gly					KIAA1467_uc021qvn.1_Non-coding_Transcript	p.R273G	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	4	840	+		Prostate(47;0.184)	273					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.817C>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	6.283	0.420308	0.11928	4.54E-4	0.0	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.22336	1.96	5.57	-5.25	0.02781	.	0.113441	0.64402	D	0.000010	T	0.13329	0.0323	L	0.36672	1.1	0.22873	N	0.998629	B	0.09022	0.002	B	0.12156	0.007	T	0.20009	-1.0288	10	0.22706	T	0.39	-20.6511	13.9977	0.64411	0.3024:0.6387:0.0589:0.0	.	273	A2RU67	K1467_HUMAN	G	273;49	ENSP00000437974:R49G	ENSP00000197268:R273G	R	+	1	2	KIAA1467	13107141	0.016000	0.18221	0.006000	0.13384	0.076000	0.17211	-0.002000	0.12924	-0.988000	0.03489	-0.457000	0.05445	CGA		0.448	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		G	13215874	C	G	13215874	3	3	165	1	0	0	0	0	1	0	0	0	8235	876	31	5	835	5	KIAA1467	12	13215874	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		13215874	120636021	32	11715											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435551	18435551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtagcattcctccaacaaAttcatccttctcaagtgact	13	12	4	12	0	2	1	2	1	1	0	6	1	5	1	3	0	2	2	3	0	5	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:18435551A>G	ENST00000266497.5	+	1	574	c.536A>G	c.(535-537)aAt>aGt	p.N179S	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N179S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N179S|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N179S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	179					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCTCCAACAAATTCATCCTTC	0.343																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(535-537)aAt>aGt		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							94	92	93					12																	18435551		1847	4095	5942	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435551A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.536A>G	12.37:g.18435551A>G	ENSP00000266497:p.Asn179Ser					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.2_5'UTR	p.N179S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			1	652	+		Hepatocellular(102;0.194)	179					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.536A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	5.340	0.247987	0.10130	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.59906	1.56;0.24;0.24;0.23	4.52	0.907	0.19321	.	3.923480	0.00397	N	0.000045	T	0.38799	0.1054	N	0.14661	0.345	0.09310	N	1	B;B	0.20368	0.044;0.026	B;B	0.20955	0.032;0.014	T	0.14117	-1.0484	10	0.21540	T	0.41	-0.0407	3.7132	0.08428	0.6123:0.1911:0.1966:0.0	.	179;179	F5H369;O75747	.;P3C2G_HUMAN	S	179	ENSP00000443850:N179S;ENSP00000404845:N179S;ENSP00000266497:N179S;ENSP00000445381:N179S	ENSP00000266497:N179S	N	+	2	0	PIK3C2G	18326818	0.021000	0.18746	0.001000	0.08648	0.001000	0.01503	0.586000	0.23894	0.149000	0.19098	0.533000	0.62120	AAT		0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18435551	A	G	18435551	3	3	165	1	0	0	0	0	1	0	0	0	11911	101	4	4	538	4	PIK3C2G	12	18435551	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	5219677	18435551	115416344	33	11716											
TMEM132D	121256	broad.mit.edu	37	chr12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaactttgatgtttgccGttccaacagctaacacactc	11	14	5	11	1	0	1	0	1	0	0	2	1	1	1	2	0	5	3	2	0	3	6	rs542438666		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:129559351G>A	ENST00000422113.2	-	9	2695	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T328M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	790					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGTTTGCCGTTCCAACAGC	0.483													G|||	1	0.000199681	0	0	5008	,	,		21901	0		0	False		,,,				2504	0.001					uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2368-2370)aCg>aTg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							192	156	168					12																	129559351		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559351G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2369C>T	12.37:g.129559351G>A	ENSP00000408581:p.Thr790Met					TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	p.T790M	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2697	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	790					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2369C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.701	-0.790851	0.02884	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14144	2.53;2.53	4.2	4.2	0.49525	.	0.206643	0.38837	N	0.001551	T	0.25344	0.0616	M	0.65975	2.015	0.09310	N	1	D;P	0.65815	0.995;0.532	P;B	0.56916	0.809;0.08	T	0.05566	-1.0877	9	.	.	.	-18.5498	7.774	0.29026	0.0934:0.1798:0.7268:0.0	.	790;328	Q14C87;Q14C87-2	T132D_HUMAN;.	M	328;790	ENSP00000374092:T328M;ENSP00000408581:T790M	.	T	-	2	0	TMEM132D	128125304	0.892000	0.30473	0.025000	0.17156	0.057000	0.15508	1.613000	0.36900	2.033000	0.60031	0.462000	0.41574	ACG		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129559351	G	A	129559351	3	1	165	1	0	0	0	0	1	0	0	0	16044	1145	40	1	934	1	TMEM132D	12	129559351	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	111123800	129559351	4292544	34	11717											
ADCY4	196883	broad.mit.edu	37	chr14	24787905	24787905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccatgcggctggccacGttcactgtgttgccccaaat	6	11	9	15	2	2	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	1	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:24787905G>A	ENST00000310677.4	-	25	3149	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	ADCY4_ENST00000418030.2_Silent_p.N1012N|ADCY4_ENST00000554068.2_Silent_p.N1012N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1012					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGCTGGCCACGTTCACTGTGT	0.537																																						uc001wow.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3034-3036)aaC>aaT		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							103	95	98					14																	24787905		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787905G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3036C>T	14.37:g.24787905G>A						ADCY4_uc010toh.2_Silent_p.N698N|ADCY4_uc001wox.3_Silent_p.N1012N|ADCY4_uc001woy.3_Silent_p.N1012N	p.N1012N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	23	3455	-			1012					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.3036C>T	CCDS9627.1																																																																																				0.537	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24787905	G	A	24787905	2	1	165	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY4	14	24787905	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		24787905	82561635	35	11718											
SERPINA1	5265	broad.mit.edu	37	chr14	94849557	94849557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaggaggatgccccaCgagacagaagacggcattgt	12	4	14	11	2	0	3	0	0	0	3	0	6	0	5	3	3	2	2	3	3	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:94849557C>T	ENST00000448921.1	-	4	590	c.18G>A	c.(16-18)tcG>tcA	p.S6S	SERPINA1_ENST00000393088.4_Silent_p.S6S|SERPINA1_ENST00000393087.4_Silent_p.S6S|SERPINA1_ENST00000437397.1_Silent_p.S6S|SERPINA1_ENST00000402629.1_Silent_p.S6S|SERPINA1_ENST00000355814.4_Silent_p.S6S|SERPINA1_ENST00000440909.1_Silent_p.S6S|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Silent_p.S6S|SERPINA1_ENST00000404814.4_Silent_p.S6S	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	6					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGATGCCCCACGAGACAGAAG	0.612																																						uc001ycy.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(16-18)tcG>tcA		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	Alpha-1-proteinase inhibitor(DB00058)						53	49	50					14																	94849557		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849557C>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.18G>A	14.37:g.94849557C>T						SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.S6S|SERPINA1_uc010auy.3_Silent_p.S6S|SERPINA1_uc001ycz.4_Silent_p.S6S|SERPINA1_uc010auz.3_Silent_p.S6S|SERPINA1_uc010ava.3_Silent_p.S6S|SERPINA1_uc001ydb.4_Silent_p.S6S|SERPINA1_uc010avb.3_Silent_p.S6S|SERPINA1_uc001ydc.4_Silent_p.S6S|SERPINA1_uc010auw.3_Silent_p.S6S|SERPINA1_uc010aux.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	p.S6S	NM_001002236	NP_001121179	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	572	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	6					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.18G>A	CCDS9925.1																																																																																				0.612	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		T	94849557	C	T	94849557	2	4	165	1	0	0	0	0	0	0	0	1	14086	523	19	1		1	SERPINA1	14	94849557	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	70061652	94849557	12499983	36	11719											
RYR3	6263	broad.mit.edu	37	chr15	34064164	34064164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgaaggctgggttaCgagcattctttgaaaatgct	10	12	13	6	1	1	2	0	2	1	0	1	3	1	2	0	3	4	5	0	3	4	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr15:34064164C>T	ENST00000389232.4	+	63	8930	c.8860C>T	c.(8860-8862)Cga>Tga	p.R2954*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2954*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2954					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTGGGTTACGAGCATTCTT	0.448																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8860-8862)Cga>Tga		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							58	56	56					15																	34064164		1905	4130	6035	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064164C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8860C>T	15.37:g.34064164C>T	ENSP00000373884:p.Arg2954*					RYR3_uc010bar.3_Nonsense_Mutation_p.R2954*	p.R2954*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	62	8930	+		all_lung(180;7.18e-09)	2954					O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8860C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	51	17.535514	0.99888	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.64	5.64	0.86602	.	0.143577	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0742	0.64880	0.0:0.9289:0.0:0.0711	.	.	.	.	X	2954	.	ENSP00000354735:R2954X	R	+	1	2	RYR3	31851456	0.940000	0.31905	0.924000	0.36721	0.930000	0.56654	1.914000	0.39966	2.937000	0.99478	0.650000	0.86243	CGA		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34064164	C	T	34064164	4	4	165	1	0	0	0	0	0	1	0	0	13770	528	19	1	9110	1	RYR3	15	34064164	Nonsense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		34064164	68467228	37	11720											
ODF4	146852	broad.mit.edu	37	chr17	8243551	8243551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaggtccttgggccagcGccagaactctccgctgccct	7	8	10	16	2	1	1	0	0	1	1	3	1	2	1	5	2	4	1	5	2	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:8243551G>A	ENST00000328248.2	+	1	370	c.182G>A	c.(181-183)cGc>cAc	p.R61H	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						TTGGGCCAGCGCCAGAACTCT	0.587																																						uc002gle.1																			0		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(181-183)cGc>cAc		Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.							82	75	78					17																	8243551		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243551G>A	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.182G>A	17.37:g.8243551G>A	ENSP00000331086:p.Arg61His						p.R61H	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			0	364	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.182G>A	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631653	0.46944	.	.	ENSG00000184650	ENST00000328248	T	0.27557	1.66	4.34	-2.17	0.07059	.	0.790513	0.11133	N	0.596122	T	0.20088	0.0483	L	0.38838	1.175	0.09310	N	1	B	0.25169	0.119	B	0.13407	0.009	T	0.18429	-1.0337	10	0.42905	T	0.14	-3.2119	8.3164	0.32102	0.6097:0.0:0.3903:0.0	.	61	Q2M2E3	ODFP4_HUMAN	H	61	ENSP00000331086:R61H	ENSP00000331086:R61H	R	+	2	0	ODF4	8184276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.400000	0.07241	-0.241000	0.09681	-0.136000	0.14681	CGC		0.587	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			A	8243551	G	A	8243551	3	1	165	1	0	0	0	0	1	0	0	0	10833	1087	38	1	184	1	ODF4	17	8243551	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		8243551	72951659	38	11721											
PPP1R1B	84152	broad.mit.edu	37	chr17	37791907	37791907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctggaagggccctgggagCgcccaccccctctggatgag	6	6	15	14	1	2	1	0	1	2	0	2	4	2	4	4	4	1	0	4	4	1	0	rs367543181		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:37791907C>T	ENST00000254079.4	+	6	962	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	STARD3_ENST00000544210.2_5'Flank|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.R129C|STARD3_ENST00000336308.5_5'Flank|STARD3_ENST00000394250.4_5'Flank|STARD3_ENST00000580611.1_5'Flank|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.R165C|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.R129C|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.R132C	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	165					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGGAGCGCCCACCCCC	0.582																																						uc002hrz.3																			0				kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(493-495)Cgc>Tgc		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.							68	78	74					17																	37791907		2203	4300	6503	SO:0001583	missense	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37791907C>T	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9287	protein-coding gene	gene with protein product	"dopamine and cAMP regulated phosphoprotein"	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.493C>T	17.37:g.37791907C>T	ENSP00000254079:p.Arg165Cys					PPP1R1B_uc010cvx.3_Missense_Mutation_p.R132C|PPP1R1B_uc002hsb.3_Missense_Mutation_p.R129C|PPP1R1B_uc002hsc.3_Missense_Mutation_p.R129C|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank	p.R165C	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	962	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		165					Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	c.493C>T	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949729	0.73787	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271;ENST00000394267;ENST00000394265	T;T;T	0.33438	1.41;1.41;1.41	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000092	T	0.48502	0.1503	L	0.51422	1.61	0.51482	D	0.99992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.991	T	0.47114	-0.9142	10	0.87932	D	0	-16.8158	12.2211	0.54435	0.0:0.8286:0.1714:0.0	.	165;176;165	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	C	165;165;176;129;129	ENSP00000254079:R165C;ENSP00000377810:R129C;ENSP00000377808:R129C	ENSP00000254079:R165C	R	+	1	0	PPP1R1B	35045433	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.323000	0.43823	2.466000	0.83321	0.650000	0.86243	CGC		0.582	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		T	37791907	C	T	37791907	3	4	165	1	0	0	0	0	1	0	0	0	12368	768	27	1	515	1	PPP1R1B	17	37791907	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	29548356	37791907	43403303	39	11722											
INTS2	57508	broad.mit.edu	37	chr17	59952385	59952385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgaagtgcattaaccGtcattacccatagcctgata	13	10	8	10	1	1	2	1	2	0	0	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:59952385G>A	ENST00000444766.3	-	19	2570	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	INTS2_ENST00000251334.6_Missense_Mutation_p.T824M|Y_RNA_ENST00000365491.1_RNA	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	832					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCATTAACCGTCATTACCCA	0.343																																						uc002izn.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(2494-2496)aCg>aTg		Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.							60	54	56					17																	59952385		1849	4099	5948	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59952385G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2495C>T	17.37:g.59952385G>A	ENSP00000414237:p.Thr832Met					INTS2_uc002izm.3_Missense_Mutation_p.T824M	p.T832M	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			18	2571	-			832					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.2495C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124253	0.77436	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.56776	0.44	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70956	-0.4731	9	.	.	.	-11.2641	17.8928	0.88877	0.0:0.0:1.0:0.0	.	832	Q9H0H0	INT2_HUMAN	M	832;831	ENSP00000414237:T832M	.	T	-	2	0	INTS2	57307167	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	9.182000	0.94881	2.521000	0.84997	0.650000	0.86243	ACG		0.343	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		A	59952385	G	A	59952385	3	1	165	1	0	0	0	0	1	0	0	0	7778	1145	40	1	1147	1	INTS2	17	59952385	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	22160478	59952385	21242825	40	11723											
TANC2	26115	broad.mit.edu	37	chr17	61271350	61271350	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgccttcttgttacAggtgatgctgaacaggagct	9	13	10	9	0	2	2	1	2	1	0	2	3	2	3	1	2	5	3	1	2	3	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:61271350A>G	ENST00000424789.2	+	4	215		c.e4-1		AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Splice_Site|AC037445.1_ENST00000435892.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2						in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCTTGTTACAGGTGATGCTG	0.423																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.e4-2		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.							68	65	66					17																	61271350		1939	4120	6059	SO:0001630	splice_region_variant	26115						binding	g.chr17:61271350A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.212-1A>G	17.37:g.61271350A>G						TANC2_uc010wpe.2_5'Flank	p.G71_splice	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			4	235	+			71					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Splice_Site	SNP	ENST00000424789.2	37	c.212_splice	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.191880	0.58017	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6722	0.77286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TANC2	58625082	1.000000	0.71417	0.977000	0.42913	0.718000	0.41266	9.070000	0.93974	2.096000	0.63516	0.528000	0.53228	.		0.423	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		Intron	G	61271350	A	G	61271350	5	3	165	1	0	0	0	0	0	0	1	0	15542	202	7	4	224	4	TANC2	17	61271350	Splice_Site	SNP	A	TCGA-19-5952-01A-11D-1696-08	1318965	61271350	19923860	41	11724											
PCYT2	5833	broad.mit.edu	37	chr17	79864762	79864762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccggtccaggggttccGcccaccagggcactgcaagc	7	5	12	17	2	0	0	0	0	0	0	2	0	2	0	6	4	3	3	6	4	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:79864762G>A	ENST00000538936.2	-	7	658	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PCYT2_ENST00000570388.1_Missense_Mutation_p.R106W|PCYT2_ENST00000570391.1_Missense_Mutation_p.R152W|PCYT2_ENST00000571105.1_Missense_Mutation_p.R184W|PCYT2_ENST00000331285.3_Missense_Mutation_p.R106W|PCYT2_ENST00000538721.2_Missense_Mutation_p.R202W	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	184					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CAGGGGTTCCGCCCACCAGGG	0.622																																						uc002kcf.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(550-552)Cgg>Tgg		Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.							44	47	46					17																	79864762		2203	4299	6502	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79864762G>A	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.550C>T	17.37:g.79864762G>A	ENSP00000439245:p.Arg184Trp					PCYT2_uc010wvb.2_Missense_Mutation_p.R152W|PCYT2_uc002kce.2_Missense_Mutation_p.R106W|PCYT2_uc002kch.2_Missense_Mutation_p.R202W|PCYT2_uc002kci.2_Missense_Mutation_p.R143W|PCYT2_uc010wvc.2_Missense_Mutation_p.R106W	p.R184W	NM_002861	NP_002852	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	659	-	all_neural(118;0.0878)|Ovarian(332;0.12)		184			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.550C>T	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548480	0.86127	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	0.334911	0.29791	N	0.011188	T	0.52256	0.1723	L	0.38175	1.15	0.37319	D	0.909485	P;P;D;P;D	0.62365	0.846;0.921;0.987;0.921;0.991	B;B;P;B;P	0.48677	0.339;0.339;0.54;0.339;0.586	T	0.64223	-0.6458	9	0.66056	D	0.02	-20.4416	17.0425	0.86493	0.0:0.0:1.0:0.0	.	152;152;202;106;184	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	W	202;184;106	.	ENSP00000331719:R106W	R	-	1	2	PCYT2	77458054	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	6.891000	0.75639	2.233000	0.73108	0.561000	0.74099	CGG		0.622	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		A	79864762	G	A	79864762	3	1	165	1	0	0	0	0	1	0	0	0	11612	1086	38	1	647	1	PCYT2	17	79864762	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	18593412	79864762	1330448	42	11725											
DSC3	1825	broad.mit.edu	37	chr18	28605880	28605880	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtgctgcatcagattcaAcctaaaagtagaaaaaaaat	18	10	6	7	0	3	2	2	0	1	2	3	2	3	2	1	0	3	3	1	0	8	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28605880A>G	ENST00000360428.4	-	5	556	c.476T>C	c.(475-477)gTt>gCt	p.V159A	DSC3_ENST00000434452.1_Splice_Site_p.V159A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	159	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATCAGATTCAACCTAAAAGTA	0.264																																						uc002kwj.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e5-1		Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.							36	37	36					18																	28605880		2203	4298	6501	SO:0001630	splice_region_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28605880A>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.475-1T>C	18.37:g.28605880A>G						DSC3_uc002kwi.4_Splice_Site_p.V159_splice	p.V159_splice	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		5	630	-			159			Cadherin 1.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.475_splice	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397884	0.83120	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.51817	0.69;0.69	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.30446	N	0.009611	T	0.68421	0.2999	M	0.83774	2.66	0.44000	D	0.996705	P;D	0.54964	0.949;0.969	D;P	0.63113	0.911;0.81	T	0.74278	-0.3717	10	0.87932	D	0	.	14.0067	0.64468	1.0:0.0:0.0:0.0	.	159;159	Q14574;Q14574-2	DSC3_HUMAN;.	A	159	ENSP00000353608:V159A;ENSP00000392068:V159A	ENSP00000353608:V159A	V	-	2	0	DSC3	26859878	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.926000	0.75835	2.186000	0.69663	0.533000	0.62120	GTT		0.264	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	Missense_Mutation	G	28605880	A	G	28605880	5	3	165	1	0	0	0	0	0	0	1	0	4767	57	2	4	2293	4	DSC3	18	28605880	Splice_Site	SNP	A	TCGA-19-5952-01A-11D-1696-08		28605880	49471368	43	11726											
DSG4	147409	broad.mit.edu	37	chr18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgttggcctcatggccGcaggggccgcaggagcctca	6	5	15	15	3	2	0	2	0	0	0	2	1	2	1	5	5	2	3	5	5	0	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28991295G>A	ENST00000308128.4	+	15	2374	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	DSG4_ENST00000359747.4_Missense_Mutation_p.A766T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612																																						uc002kwr.2																			2	Substitution - Missense(2)	p.A747T(1)|p.A766T(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2296-2298)Gca>Aca		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							55	54	54					18																	28991295		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991295G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2239G>A	18.37:g.28991295G>A	ENSP00000311859:p.Ala747Thr					DSG4_uc002kwq.2_Missense_Mutation_p.A747T	p.A766T	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2431	+			747					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2296G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081746	0.20309	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.97	3.21	0.36854	.	1.875210	0.03665	N	0.243122	T	0.47303	0.1438	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.035;0.036	B;B	0.15870	0.014;0.012	T	0.23013	-1.0200	10	0.33141	T	0.24	.	6.4264	0.21772	0.2094:0.1314:0.6592:0.0	.	766;747	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	747;766	ENSP00000311859:A747T;ENSP00000352785:A766T	ENSP00000311859:A747T	A	+	1	0	DSG4	27245293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	0.413000	0.25759	-0.727000	0.03589	GCA		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		A	28991295	G	A	28991295	3	1	165	1	0	0	0	0	1	0	0	0	4779	1087	38	1	2418	1	DSG4	18	28991295	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	385415	28991295	49085953	44	11727											
POLRMT	5442	broad.mit.edu	37	chr19	618520	618522	+	In_Frame_Del	DEL	GGA	GGA	-																															agggcggtgagcatcatgtgGgaggagtccagcgagtggat																										TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:618520_618522delGGA	ENST00000588649.2	-	17	3472_3474	c.3388_3390delTCC	c.(3388-3390)tccdel	p.S1130del	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1130	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCATGTGGGAGGAGTCCAGC	0.66																																						uc002lpf.1																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(3388-3390)tccdel		Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001651	inframe_deletion	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:618520_618522delGGA		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3388_3390delTCC	19.37:g.618523_618525delGGA	ENSP00000465759:p.Ser1130del						p.S1130del	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	3444_3446	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1130			Mediates interaction with TEFM.		O60370	In_Frame_Del	DEL	ENST00000588649.2	37	c.3388_3390delTCC	CCDS12036.1																																																																																				0.66	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		-	618522	GGA	-	618520	7	5	165	1	0	1	0	1	0	0	0	0	12238	1219	43	0	322	0	POLRMT	19	618520	In_Frame_Del	DEL	GGA	TCGA-19-5952-01A-11D-1696-08		618520	58510463	45	11728											
ZNF681	148213	broad.mit.edu	37	chr19	23927954	23927954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgggtagttggcaaaCattggttaagtccattataa	11	14	10	6	0	1	0	0	0	1	0	2	0	2	0	1	3	2	5	1	3	5	6			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:23927954C>T	ENST00000402377.3	-	4	539	c.398G>A	c.(397-399)tGt>tAt	p.C133Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.C64Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTTGGCAAACATTGGTTAAG	0.313																																						uc002nrk.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(397-399)tGt>tAt		Homo sapiens zinc finger protein 681 (ZNF681), mRNA.							53	52	53					19																	23927954		2202	4300	6502	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927954C>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.398G>A	19.37:g.23927954C>T	ENSP00000384000:p.Cys133Tyr					ZNF681_uc002nrl.4_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.4_Missense_Mutation_p.C64Y	p.C133Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			3	540	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	133					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.398G>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	2.896	-0.228660	0.06022	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.10099	3.23;2.91;6.06;6.41	1.27	-2.39	0.06602	.	.	.	.	.	T	0.11153	0.0272	M	0.83012	2.62	0.09310	N	1	B	0.25272	0.122	B	0.31290	0.127	T	0.47623	-0.9103	9	0.09338	T	0.73	.	0.1863	0.00129	0.256:0.2598:0.2549:0.2293	.	133	Q96N22	ZN681_HUMAN	Y	133;64;64;64	ENSP00000384000:C133Y;ENSP00000378783:C64Y;ENSP00000433806:C64Y;ENSP00000435824:C64Y	ENSP00000378783:C64Y	C	-	2	0	ZNF681	23719794	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.715000	0.04997	-0.381000	0.07882	0.313000	0.20887	TGT		0.313	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		T	23927954	C	T	23927954	3	4	165	1	0	0	0	0	1	0	0	0	18085	478	17	3	1543	3	ZNF681	19	23927954	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	23309434	23927954	35201029	46	11729											
PRODH2	58510	broad.mit.edu	37	chr19	36293096	36293096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccattcacatacccaGtgctagagagacgtggtcac	11	7	12	11	1	2	2	2	0	0	2	2	4	2	3	2	2	3	1	2	2	2	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:36293096G>A	ENST00000301175.3	-	10	1440	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	475					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACATACCCAGTGCTAGAGAG	0.577																																						uc002obx.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1423-1425)Ctg>Ttg		Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.							202	171	181					19																	36293096		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36293096G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1423C>T	19.37:g.36293096G>A							p.L475L	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1441	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		475						Silent	SNP	ENST00000301175.3	37	c.1423C>T	CCDS12478.1																																																																																				0.577	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		A	36293096	G	A	36293096	2	1	165	1	0	0	0	0	0	0	0	1	12549	1020	36	3		3	PRODH2	19	36293096	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	12365142	36293096	22835887	47	11730											
PSG7	5676	broad.mit.edu	37	chr19	43439731	43439731	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatttaattatttgaccGtctactatatatgatgtaac	13	17	4	7	1	1	2	0	2	1	0	1	2	1	2	2	0	2	1	2	0	8	10	rs140238439	byFrequency	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:43439731G>A	ENST00000406070.2	-	0	351				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTATTTGACCGTCTACTATAT	0.418													.|||	9	0.00179712	0	0	5008	,	,		19066	0.0069		0	False		,,,				2504	0.002					uc002ovl.4																			0											c.(253-255)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.							245	247	246					19																	43439731		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439731G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439731G>A						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	p.D85D	NM_002783	NP_002774	Q13046	PSG7_HUMAN			1	357	-		Prostate(69;0.00682)	85			Ig-like V-type.		Q15232	Silent	SNP	ENST00000406070.2	37	c.255C>T																																																																																					0.418	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		A	43439731	G	A	43439731	1	1	165	0	1	0	0	0	0	0	0	0	12660	1136	40	1		1	PSG7	19	43439731	RNA	SNP	G	TCGA-19-5952-01A-11D-1696-08	7146635	43439731	15689252	48	11731											
PVR	5817	broad.mit.edu	37	chr19	45153193	45153193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaaatcacctggcaCtcagacctgggcgggatgcc	9	5	11	16	1	2	1	2	0	0	1	2	2	2	2	5	3	2	1	5	3	1	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:45153193C>T	ENST00000425690.3	+	3	839	c.540C>T	c.(538-540)caC>caT	p.H180H	PVR_ENST00000344956.4_Silent_p.H180H|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.H180H|PVR_ENST00000403059.4_Silent_p.H180H	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	180	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCACCTGGCACTCAGACCTGG	0.632																																						uc002ozm.3																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(538-540)caC>caT		Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.							56	59	58					19																	45153193		2203	4300	6503	SO:0001819	synonymous_variant	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153193C>T	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.540C>T	19.37:g.45153193C>T						PVR_uc010ejs.3_Silent_p.H180H|PVR_uc010xxb.2_Silent_p.H180H|PVR_uc010xxc.2_Silent_p.H180H|PVR_uc002ozn.3_Silent_p.H125H	p.H180H	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	2	839	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	180			Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	37	c.540C>T	CCDS12640.1																																																																																				0.632	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		T	45153193	C	T	45153193	2	4	165	1	0	0	0	0	0	0	0	1	12837	564	20	3		3	PVR	19	45153193	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	1713462	45153193	13975790	49	11732											
VSTM1	284415	broad.mit.edu	37	chr19	54567025	54567025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagggagaggaattctgCggtcatagcgtcccttctgc	9	9	13	10	2	3	1	1	0	2	1	4	3	4	2	1	3	4	1	1	3	3	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:54567025C>T	ENST00000338372.2	-	1	182	c.7G>A	c.(7-9)Gca>Aca	p.A3T	VSTM1_ENST00000376626.1_Missense_Mutation_p.A3T|VSTM1_ENST00000425006.2_Missense_Mutation_p.A3T|VSTM1_ENST00000366170.2_5'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	3					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGAATTCTGCGGTCATAGCG	0.627																																						uc002qcw.4																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(7-9)Gca>Aca		Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.							164	163	164					19																	54567025		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54567025C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.7G>A	19.37:g.54567025C>T	ENSP00000343366:p.Ala3Thr					VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_5'UTR|VSTM1_uc002qcx.4_Missense_Mutation_p.A3T|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A3T	p.A3T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	0	183	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		3					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.7G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.471814	0.01044	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.00557	6.86;6.62;6.65	3.38	-1.32	0.09201	.	.	.	.	.	T	0.00241	0.0007	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36625	-0.9740	9	0.45353	T	0.12	-0.6291	3.9167	0.09227	0.0:0.3509:0.1993:0.4498	.	3;3	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	3	ENSP00000343366:A3T;ENSP00000365813:A3T;ENSP00000413006:A3T	ENSP00000343366:A3T	A	-	1	0	VSTM1	59258837	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.303000	0.02743	-0.391000	0.07763	-0.415000	0.06103	GCA		0.627	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		T	54567025	C	T	54567025	3	4	165	1	0	0	0	0	1	0	0	0	17225	768	27	1	739	1	VSTM1	19	54567025	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	9413832	54567025	4561958	50	11733											
SLCO4A1	28231	broad.mit.edu	37	chr20	61297841	61297841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgcctgttctgcacCgttgtcagcctgctgggcat	5	13	11	12	1	3	0	1	0	2	0	3	0	3	0	3	1	4	6	3	1	1	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr20:61297841C>T	ENST00000370507.1	+	6	1482	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	SLCO4A1_ENST00000217159.1_Silent_p.T462T|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	462					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTTCTGCACCGTTGTCAGCC	0.652																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1384-1386)acC>acT		Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.							175	161	166					20																	61297841		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61297841C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1386C>T	20.37:g.61297841C>T						LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	p.T462T	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		6	1591	+	Breast(26;3.65e-08)		462					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1386C>T	CCDS13501.1																																																																																				0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61297841	C	T	61297841	2	4	165	1	0	0	0	0	0	0	0	1	14729	639	23	2		2	SLCO4A1	20	61297841	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		61297841	1727679	51	11734											
OSM	5008	broad.mit.edu	37	chr22	30660354	30660354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctgcaggaagccccGcctgcccagccccctcaggg	6	4	14	17	1	2	0	1	0	1	0	2	2	2	1	6	3	4	1	6	3	1	0	rs201503663		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr22:30660354G>A	ENST00000215781.2	-	3	317	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Missense_Mutation_p.R72W	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	93					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAAGCCCCGCCTGCCCAGC	0.642													G|||	1	0.000199681	0	0	5008	,	,		15973	0		0	False		,,,				2504	0.001					uc003ahb.3																			0		p.R93R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11						c.(277-279)Cgg>Tgg		Homo sapiens oncostatin M (OSM), mRNA.		G	TRP/ARG	0,4386		0,0,2193	23	25	24		277	-4.8	0	22		24	1,8547		0,1,4273	no	missense	OSM	NM_020530.4	101	0,1,6466	AA,AG,GG		0.0117,0.0,0.0077	benign	93/253	30660354	1,12933	2193	4274	6467	SO:0001583	missense	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30660354G>A	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.277C>T	22.37:g.30660354G>A	ENSP00000215781:p.Arg93Trp						p.R93W	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		2	318	-			93					Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	c.277C>T	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696181	0.30052	0.0	1.17E-4	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.48836	0.8	3.73	-4.81	0.03180	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.698390	0.03715	N	0.250910	T	0.25791	0.0628	N	0.17082	0.46	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.15037	-1.0451	10	0.56958	D	0.05	-0.4006	0.5647	0.00685	0.1995:0.2884:0.2193:0.2927	.	93	P13725	ONCM_HUMAN	W	93;72	ENSP00000215781:R93W	ENSP00000215781:R93W	R	-	1	2	OSM	28990354	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.352000	0.07701	-0.562000	0.06086	0.561000	0.74099	CGG		0.642	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		A	30660354	G	A	30660354	3	1	165	1	0	0	0	0	1	0	0	0	11291	1086	38	1	485	1	OSM	22	30660354	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		30660354	20644212	52	11735											
PADI6	353238	broad.mit.edu	37	chr1	17708559	17708559	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catacctccaaggaagagtcGaagaaggcgagagtctactg	14	6	12	9	2	1	3	0	0	1	3	3	6	2	4	2	2	2	0	2	2	6	2	rs376937636	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:17708559G>A	ENST00000434762.2	+	0	701							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAAGAGTCGAAGAAGGCGA	0.522													G|||	4	0.000798722	0.0023	0	5008	,	,		18302	0		0.001	False		,,,				2504	0					uc001bak.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29						c.(649-651)tcG>tcA		Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	L-Citrulline(DB00155)	G		3,3983		0,3,1990	68	72	71		651	-6.4	0	1		71	1,8287		0,1,4143	no	coding-synonymous	PADI6	NM_207421.3		0,4,6133	AA,AG,GG		0.0121,0.0753,0.0326		217/695	17708559	4,12270	1993	4144	6137			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17708559G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708559G>A							p.S217S	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	651	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	209					Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37	c.651G>A																																																																																					0.522	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		A	17708559	G	A	17708559	1	1	166	0	1	0	0	0	0	0	0	0	11381	1045	37	2		2	PADI6	1	17708559	RNA	SNP	G	TCGA-19-5953-01B-12D-1845-08		17708559	231542062	1	11736											
HP1BP3	50809	broad.mit.edu	37	chr1	21071371	21071371	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcttgcactggttgcAggcttctttgaggagccacc	5	14	10	12	0	2	1	0	1	2	0	3	2	3	2	3	3	3	4	3	3	0	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:21071371A>G	ENST00000312239.5	-	13	1720	c.1581T>C	c.(1579-1581)ccT>ccC	p.P527P	RP5-930J4.4_ENST00000413451.1_RNA|HP1BP3_ENST00000375003.2_Silent_p.P375P	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	527	Lys-rich.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CACTGGTTGCAGGCTTCTTTG	0.458																																						uc001bdy.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(1579-1581)ccT>ccC		Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.							100	101	101					1																	21071371		2203	4300	6503	SO:0001819	synonymous_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21071371A>G	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1581T>C	1.37:g.21071371A>G						HP1BP3_uc001bdv.1_Silent_p.P489P|HP1BP3_uc001bdw.1_Silent_p.P527P|HP1BP3_uc010odh.1_Silent_p.P489P|HP1BP3_uc010odf.1_Silent_p.P186P|HP1BP3_uc010odg.1_Silent_p.P375P	p.P527P	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	11	1681	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	527			Lys-rich.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	ENST00000312239.5	37	c.1581T>C	CCDS30621.1																																																																																				0.458	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		G	21071371	A	G	21071371	2	3	166	1	0	0	0	0	0	0	0	1	7328	175	7	4		4	HP1BP3	1	21071371	Silent	SNP	A	TCGA-19-5953-01B-12D-1845-08	3362812	21071371	228179250	2	11737											
TINAGL1	64129	broad.mit.edu	37	chr1	32050587	32050587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccaccagcagcagggCtgccgcggtgggcgtctcga	7	4	15	15	4	1	0	0	0	1	0	2	2	1	0	3	3	3	3	3	3	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:32050587C>T	ENST00000271064.7	+	7	883	c.807C>T	c.(805-807)ggC>ggT	p.G269G	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.G238G	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	269					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGCAGCAGGGCTGCCGCGGTG	0.627																																						uc001bta.3																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(805-807)ggC>ggT		Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.							56	59	58					1																	32050587		2203	4300	6503	SO:0001819	synonymous_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050587C>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.807C>T	1.37:g.32050587C>T						TINAGL1_uc010ogj.2_Silent_p.G238G|TINAGL1_uc010ogk.1_Silent_p.G269G|TINAGL1_uc021oko.1_Silent_p.G164G	p.G269G	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	6	933	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	269					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	c.807C>T	CCDS343.1																																																																																				0.627	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		T	32050587	C	T	32050587	2	4	166	1	0	0	0	0	0	0	0	1	15919	784	28	3		3	TINAGL1	1	32050587	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	10979216	32050587	217200034	3	11738											
WDR78	79819	broad.mit.edu	37	chr1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccattgtgatagccaaCggctaaaaggttaggtgctc	10	11	12	8	1	0	1	0	1	0	0	1	1	0	1	2	3	4	3	2	3	5	4	rs375562160		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363																																						uc001dcx.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1660-1662)Gtt>Att		Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104	103	103		1660	4.4	1	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense	79819							g.chr1:67301382C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1660G>A	1.37:g.67301382C>T	ENSP00000360065:p.Val554Ile					WDR78_uc009waw.3_Missense_Mutation_p.V300I|WDR78_uc009wax.3_Intron	p.V554I	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			10	1716	-			554					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1660G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		T	67301382	C	T	67301382	3	4	166	1	0	0	0	0	1	0	0	0	17325	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	35250795	67301382	181949239	4	11739											
BARHL2	343472	broad.mit.edu	37	chr1	91182597	91182597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacggtatcaatctccgaAcagggagatggggtggcctg	9	8	14	10	2	2	1	1	0	1	1	3	3	2	1	3	5	2	1	3	5	4	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:91182597A>G	ENST00000370445.4	-	1	197	c.156T>C	c.(154-156)tgT>tgC	p.C52C		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	52					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAATCTCCGAACAGGGAGATG	0.607																																					GBM(199;3561 4100 22440)	uc001dns.3																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(154-156)tgT>tgC		Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.							75	83	80					1																	91182597		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182597A>G	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.156T>C	1.37:g.91182597A>G							p.C52C	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	0	198	-		all_lung(203;0.0263)|Lung SC(238;0.128)	52					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.156T>C	CCDS730.1																																																																																				0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			G	91182597	A	G	91182597	2	3	166	1	0	0	0	0	0	0	0	1	1314	41	2	4		4	BARHL2	1	91182597	Silent	SNP	A	TCGA-19-5953-01B-12D-1845-08	23881215	91182597	158068024	5	11740											
HSD3B1	3283	broad.mit.edu	37	chr1	120056674	120056674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgggtggaatctgaaaaaCggcggcaccctgtacacttg	12	7	12	10	3	1	1	0	1	1	0	1	2	1	2	1	4	3	2	1	4	5	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:120056674C>T	ENST00000369413.3	+	4	673	c.528C>T	c.(526-528)aaC>aaT	p.N176N	HSD3B1_ENST00000235547.6_Silent_p.N178N|HSD3B1_ENST00000528909.1_Silent_p.N176N			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	176					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ATCTGAAAAACGGCGGCACCC	0.507																																						uc001ehv.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(526-528)aaC>aaT		Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	NADH(DB00157)|Trilostane(DB01108)						72	72	72					1																	120056674		2203	4300	6503	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056674C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.528C>T	1.37:g.120056674C>T							p.N176N	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	3	673	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	176					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.528C>T	CCDS903.1																																																																																				0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		T	120056674	C	T	120056674	2	4	166	1	0	0	0	0	0	0	0	1	7390	535	19	1		1	HSD3B1	1	120056674	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	28874077	120056674	129193947	6	11741											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859794	144859794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtttccagggtcagtgCtggctgggaagttctggtta	5	14	15	7	0	2	0	1	0	1	0	3	1	3	1	1	4	1	6	1	4	2	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859794C>G	ENST00000369354.3	-	38	6479	c.6290G>C	c.(6289-6291)aGc>aCc	p.S2097T	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2097T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1991T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2233T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2182T|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2097					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTCAGTGCTGGCTGGGAA	0.577			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6289-6291)aGc>aCc		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							66	64	65					1																	144859794		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859794C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6290G>C	1.37:g.144859794C>G	ENSP00000358360:p.Ser2097Thr					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S2097T|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1991T|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1104T	p.S2097T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6592	-			2097					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6290G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348436	0.11126	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01685	4.69;4.77;4.77;4.79;4.77	3.79	-5.38	0.02673	.	.	.	.	.	T	0.00440	0.0014	L	0.34521	1.04	0.09310	N	0.999996	B;B	0.23316	0.001;0.083	B;B	0.16722	0.002;0.016	T	0.46205	-0.9208	9	0.44086	T	0.13	.	2.2809	0.04114	0.1203:0.3781:0.1329:0.3687	.	1991;2097	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	T	1991;2097;2097;2182;2233	ENSP00000327209:S1991T;ENSP00000358360:S2097T;ENSP00000358363:S2097T;ENSP00000435654:S2182T;ENSP00000358366:S2233T	ENSP00000327209:S1991T	S	-	2	0	PDE4DIP	143571151	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.228000	0.00549	-0.951000	0.03654	-0.884000	0.02946	AGC		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144859794	C	G	144859794	3	3	166	1	0	0	0	0	1	0	0	0	11643	797	28	5	778	5	PDE4DIP	1	144859794	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	24803120	144859794	104390827	7	11742											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859988	144859988	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatttggtgacaggcatcCaggctgtaagctgagagaga	11	8	16	6	0	0	3	0	2	0	2	1	6	1	4	1	4	1	4	1	4	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859988C>G	ENST00000369354.3	-	38	6285	c.6096G>C	c.(6094-6096)ctG>ctC	p.L2032L	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.L2032L|PDE4DIP_ENST00000313382.9_Silent_p.L1926L|PDE4DIP_ENST00000369359.4_Silent_p.L2168L|PDE4DIP_ENST00000530740.1_Silent_p.L2117L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2032					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACAGGCATCCAGGCTGTAAG	0.527			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6094-6096)ctG>ctC		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							116	111	113					1																	144859988		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859988C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6096G>C	1.37:g.144859988C>G						NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L2032L|PDE4DIP_uc001elx.4_Silent_p.L1926L|PDE4DIP_uc001elv.4_Silent_p.L1039L	p.L2032L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6398	-			2032					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6096G>C	CCDS30824.1																																																																																				0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144859988	C	G	144859988	2	3	166	1	0	0	0	0	0	0	0	1	11643	581	21	5		5	PDE4DIP	1	144859988	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	194	144859988	104390633	8	11743											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530495	150530495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgccagctgcagtgccGgcaggaatttggggggggtg	6	6	19	10	2	0	0	0	0	0	0	0	1	0	1	3	6	3	4	3	6	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:150530495G>A	ENST00000369038.2	+	12	2453	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R774Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R751Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R751Q			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	751	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCAGTGCCGGCAGGAATTT	0.706																																						uc009wlw.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2320-2322)cGg>cAg		Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.							36	42	40					1																	150530495		2112	4160	6272	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530495G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2252G>A	1.37:g.150530495G>A	ENSP00000358034:p.Arg751Gln					ADAMTSL4_uc001euw.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R712Q|ADAMTSL4_uc009wlx.3_5'UTR	p.R774Q	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		13	2479	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		751			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2321G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463726	0.96257	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.92	5.92	0.95590	.	.	.	.	.	T	0.58308	0.2113	L	0.52011	1.625	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.953;0.974;0.953;0.998	T	0.56475	-0.7973	9	0.54805	T	0.06	.	17.8145	0.88627	0.0:0.0:1.0:0.0	.	712;774;751;751	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	751;751;289;774;751	ENSP00000358037:R751Q;ENSP00000271643:R751Q;ENSP00000358035:R774Q;ENSP00000358034:R751Q	ENSP00000271643:R751Q	R	+	2	0	ADAMTSL4	148797119	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	9.282000	0.95840	2.813000	0.96785	0.561000	0.74099	CGG		0.706	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		A	150530495	G	A	150530495	3	1	166	1	0	0	0	0	1	0	0	0	277	1116	39	2	2298	2	ADAMTSL4	1	150530495	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	5670507	150530495	98720126	9	11744											
FCGR3A	2214	broad.mit.edu	37	chr1	161518335	161518335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcctggcttgagatgagGctctcattgtgaaaccactg	9	10	13	9	0	1	3	1	3	1	1	2	5	1	3	2	3	1	2	2	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:161518335G>A	ENST00000436743.1	-	4	349	c.195C>T	c.(193-195)agC>agT	p.S65S	FCGR3A_ENST00000443193.1_Silent_p.S100S|FCGR3A_ENST00000367969.3_Silent_p.S101S|FCGR3A_ENST00000540048.1_Silent_p.S65S|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	65	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGAGATGAGGCTCTCATTGT	0.552																																						uc001gar.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(301-303)agC>agT		Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						304	294	298					1																	161518335		2203	4300	6503	SO:0001819	synonymous_variant	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518335G>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.195C>T	1.37:g.161518335G>A						FCGR3A_uc001gas.3_Silent_p.S100S|FCGR3A_uc001gat.4_Silent_p.S65S|FCGR3A_uc009wuh.3_Silent_p.S64S|FCGR3A_uc009wui.3_Silent_p.S65S	p.S101S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	487	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		65			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	c.303C>T	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056905	0.08339	.	.	ENSG00000203747	ENST00000426740	.	.	.	4.43	0.132	0.14762	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34079	-0.9843	4	.	.	.	.	1.0832	0.01647	0.2139:0.1737:0.4337:0.1787	.	.	.	.	V	82	.	.	A	-	2	0	FCGR3A	159784959	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.663000	0.05299	0.156000	0.19299	-0.226000	0.12346	GCC		0.552	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		A	161518335	G	A	161518335	2	1	166	1	0	0	0	0	0	0	0	1	5784	1194	42	3		3	FCGR3A	1	161518335	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	10987840	161518335	87732286	10	11745											
GORAB	92344	broad.mit.edu	37	chr1	170521169	170521169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggaagcggtttgacAgggctgaagcagagtacatt	12	9	13	7	1	0	3	0	2	0	1	0	4	0	4	0	3	4	4	0	3	4	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:170521169A>G	ENST00000367763.3	+	5	771	c.751A>G	c.(751-753)Agg>Ggg	p.R251G		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	251	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGTTTGACAGGGCTGAAGC	0.398																																						uc001gha.2																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(751-753)Agg>Ggg		Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.							112	114	114					1																	170521169		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170521169A>G	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.751A>G	1.37:g.170521169A>G	ENSP00000356737:p.Arg251Gly					GORAB_uc009wvx.2_Missense_Mutation_p.R71G|GORAB_uc001ghb.2_Missense_Mutation_p.R71G|GORAB_uc001ghc.2_Missense_Mutation_p.R71G|GORAB_uc001ghd.2_Missense_Mutation_p.R44G	p.R251G	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			4	778	+			251			Necessary for interaction with RCHY1.		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.751A>G	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.864576	0.71949	.	.	ENSG00000120370	ENST00000367763	T	0.63580	-0.05	5.6	5.6	0.85130	.	0.290840	0.41396	D	0.000898	T	0.48732	0.1516	M	0.62723	1.935	0.80722	D	1	P	0.41848	0.763	B	0.36608	0.229	T	0.61013	-0.7148	10	0.72032	D	0.01	-23.6268	15.5031	0.75716	1.0:0.0:0.0:0.0	.	251	Q5T7V8	GORAB_HUMAN	G	251	ENSP00000356737:R251G	ENSP00000356737:R251G	R	+	1	2	GORAB	168787793	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.884000	0.92432	2.144000	0.66660	0.529000	0.55759	AGG		0.398	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		G	170521169	A	G	170521169	3	3	166	1	0	0	0	0	1	0	0	0	6574	179	7	4	773	4	GORAB	1	170521169	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08	9002834	170521169	78729452	11	11746											
PAPPA2	60676	broad.mit.edu	37	chr1	176563936	176563936	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccctgaacagcccctTcatggcatcttgccgctctt	5	12	8	16	1	3	1	1	1	2	0	4	1	4	1	5	2	3	2	5	2	1	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:176563936T>C	ENST00000367662.3	+	3	2360	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.F399S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	399					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACAGCCCCTTCATGGCATCT	0.592																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1195-1197)tTc>tCc		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							93	93	93					1																	176563936		2038	4190	6228	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563936T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1196T>C	1.37:g.176563936T>C	ENSP00000356634:p.Phe399Ser					PAPPA2_uc001gky.1_Missense_Mutation_p.F399S|PAPPA2_uc009www.3_Non-coding_Transcript	p.F399S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	2360	+			399					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1196T>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096892	0.56075	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32515	4.67;1.45	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.106709	0.64402	D	0.000004	T	0.49253	0.1546	M	0.68593	2.085	0.39792	D	0.972445	B;D	0.71674	0.392;0.998	B;D	0.68039	0.374;0.955	T	0.51148	-0.8742	10	0.42905	T	0.14	-22.0804	10.4272	0.44385	0.1457:0.0:0.0:0.8543	.	399;399	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	S	399	ENSP00000356634:F399S;ENSP00000356633:F399S	ENSP00000356633:F399S	F	+	2	0	PAPPA2	174830559	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.917000	0.56424	2.063000	0.61619	0.524000	0.50904	TTC		0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176563936	T	C	176563936	3	2	166	1	0	0	0	0	1	0	0	0	11433	1783	62	4	1202	4	PAPPA2	1	176563936	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08	6042767	176563936	72686685	12	11747											
ANGPTL1	9068	broad.mit.edu	37	chr1	178822880	178822880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatataaatcccactgaccGaatgcccagcttcttttgct	10	13	5	13	1	2	1	1	1	1	0	3	2	3	1	3	0	3	2	3	0	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:178822880G>A	ENST00000234816.2	-	4	1313	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S289L	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	289	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCCACTGACCGAATGCCCAGC	0.373																																						uc001gma.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(865-867)tCg>tTg		Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.							102	97	98					1																	178822880		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178822880G>A	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.866C>T	1.37:g.178822880G>A	ENSP00000234816:p.Ser289Leu					RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S289L|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S211L	p.S289L	NM_004673	NP_004664	O95841	ANGL1_HUMAN			3	1342	-			289			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.866C>T	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037547	0.75617	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.77098	-1.07;-1.07	6.16	6.16	0.99307	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.320888	0.33712	N	0.004639	T	0.76321	0.3971	L	0.39898	1.24	0.49299	D	0.999777	P	0.41345	0.746	B	0.43658	0.426	T	0.71852	-0.4467	10	0.30078	T	0.28	.	20.4549	0.99139	0.0:0.0:1.0:0.0	.	289	O95841	ANGL1_HUMAN	L	289;289;253	ENSP00000234816:S289L;ENSP00000356601:S289L	ENSP00000234816:S289L	S	-	2	0	ANGPTL1	177089503	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	4.793000	0.62474	2.937000	0.99478	0.650000	0.86243	TCG		0.373	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		A	178822880	G	A	178822880	3	1	166	1	0	0	0	0	1	0	0	0	613	1059	37	2	621	2	ANGPTL1	1	178822880	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	2258944	178822880	70427741	13	11748											
KIAA1614	57710	broad.mit.edu	37	chr1	180914469	180914469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcaccacggcgtgccctCagtgtggaggacgtgggtgc	6	8	15	12	3	2	0	2	0	0	0	2	2	2	2	2	4	2	0	2	4	0	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:180914469C>T	ENST00000367588.4	+	9	3373	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Silent_p.L727L|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGTGCCCTCAGTGTGGAGG	0.662																																						uc001gok.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(3316-3318)ctC>ctT		Homo sapiens KIAA1614 (KIAA1614), mRNA.							51	57	55					1																	180914469		2074	4181	6255	SO:0001819	synonymous_variant	57710							g.chr1:180914469C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3318C>T	1.37:g.180914469C>T						KIAA1614_uc001gol.1_Silent_p.L727L|KIAA1614_uc001gom.1_Silent_p.L197L|STX6_uc009wxo.1_Non-coding_Transcript	p.L1106L	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			8	3385	+			1106					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.3318C>T	CCDS41442.1																																																																																				0.662	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180914469	C	T	180914469	2	4	166	1	0	0	0	0	0	0	0	1	8248	813	29	3		3	KIAA1614	1	180914469	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	2091589	180914469	68336152	14	11749											
LAMB3	3914	broad.mit.edu	37	chr1	209796522	209796522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctggagttgccacaGagctgtggacagatggcggt	8	9	15	9	1	1	2	0	0	1	2	1	4	1	4	2	4	3	2	2	4	0	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:209796522G>T	ENST00000356082.4	-	17	2495	c.2361C>A	c.(2359-2361)ctC>ctA	p.L787L	LAMB3_ENST00000367030.3_Silent_p.L787L|LAMB3_ENST00000391911.1_Silent_p.L787L|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	787	Domain alpha.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTTGCCACAGAGCTGTGGAC	0.572																																						uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2359-2361)ctC>ctA		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.							46	49	48					1																	209796522		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209796522G>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2361C>A	1.37:g.209796522G>T						LAMB3_uc009xco.3_Silent_p.L787L|LAMB3_uc001hhh.3_Silent_p.L787L|LAMB3_uc010psl.1_Non-coding_Transcript	p.L787L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	15	2751	-			787			Domain alpha.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.2361C>A	CCDS1487.1																																																																																				0.572	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		T	209796522	G	T	209796522	2	4	166	1	0	0	0	0	0	0	0	1	8612	929	33	5		5	LAMB3	1	209796522	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	28882053	209796522	39454099	15	11750											
TRIM58	25893	broad.mit.edu	37	chr1	248039229	248039229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctggatcccgccacggCgcacccgagtctgctcttga	8	7	11	15	4	2	1	0	1	2	0	3	3	3	2	3	2	2	3	3	2	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:248039229C>T	ENST00000366481.3	+	6	947	c.899C>T	c.(898-900)gCg>gTg	p.A300V	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCGCCACGGCGCACCCGAGT	0.552																																						uc001ido.3																			0		p.T299T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(898-900)gCg>gTg		Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.							62	60	61					1																	248039229		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039229C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.899C>T	1.37:g.248039229C>T	ENSP00000355437:p.Ala300Val					OR2W3_uc001idp.1_5'UTR	p.A300V	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		5	947	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	300			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.899C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056178	0.55325	.	.	ENSG00000162722	ENST00000366481	T	0.37915	1.17	3.95	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.57975	0.2090	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62840	-0.6769	10	0.72032	D	0.01	.	11.2344	0.48931	0.1846:0.8154:0.0:0.0	.	300	Q8NG06	TRI58_HUMAN	V	300	ENSP00000355437:A300V	ENSP00000355437:A300V	A	+	2	0	TRIM58	246105852	0.995000	0.38212	0.197000	0.23402	0.100000	0.18952	3.349000	0.52217	1.250000	0.43966	0.650000	0.86243	GCG		0.552	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039229	C	T	248039229	3	4	166	1	0	0	0	0	1	0	0	0	16528	768	27	1	921	1	TRIM58	1	248039229	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	38242707	248039229	1211392	16	11751											
APOB	338	broad.mit.edu	37	chr2	21232448	21232448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacaaactggtggtaaTcaaatgactttaatttcttt	13	16	5	7	0	3	1	1	1	2	0	3	1	3	1	0	2	2	1	0	2	5	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:21232448T>C	ENST00000233242.1	-	26	7419	c.7292A>G	c.(7291-7293)gAt>gGt	p.D2431G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2431					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGTAATCAAATGACTT	0.343																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7291-7293)gAt>gGt		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						88	86	86					2																	21232448		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232448T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7292A>G	2.37:g.21232448T>C	ENSP00000233242:p.Asp2431Gly						p.D2431G	NM_000384	NP_000375	P04114	APOB_HUMAN			25	7420	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2431					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7292A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985932	0.74589	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01034	5.42	5.49	5.49	0.81192	.	0.371166	0.23321	N	0.049460	T	0.03348	0.0097	M	0.76574	2.34	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.44360	-0.9333	10	0.72032	D	0.01	.	15.5929	0.76550	0.0:0.0:0.0:1.0	.	2431	P04114	APOB_HUMAN	G	2431	ENSP00000233242:D2431G	ENSP00000233242:D2431G	D	-	2	0	APOB	21085953	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.436000	0.59948	2.075000	0.62263	0.459000	0.35465	GAT		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21232448	T	C	21232448	3	2	166	1	0	0	0	0	1	0	0	0	785	1435	50	4	6415	4	APOB	2	21232448	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08		21232448	221966925	17	11752											
SLC9A4	389015	broad.mit.edu	37	chr2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagattctgatccgccGccagaacaccttaagggaga	14	7	10	10	2	1	4	0	1	1	3	2	6	2	4	4	1	1	0	4	1	4	3	rs368438401		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:103141556G>A	ENST00000295269.4	+	10	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	631					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1891-1893)cGc>cAc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	155	161	159		1892	5.8	1	2		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	631/799	103141556	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141556G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1892G>A	2.37:g.103141556G>A	ENSP00000295269:p.Arg631His						p.R631H	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			9	2349	+			631					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1892G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984733	0.74474	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.44083	0.93	5.84	5.84	0.93424	.	0.213337	0.50627	D	0.000109	T	0.69106	0.3074	M	0.83603	2.65	0.45962	D	0.998788	D	0.89917	1.0	D	0.78314	0.991	T	0.70912	-0.4743	10	0.56958	D	0.05	.	18.9173	0.92510	0.0:0.0:1.0:0.0	.	631	Q6AI14	SL9A4_HUMAN	H	631	ENSP00000295269:R631H	ENSP00000295269:R631H	R	+	2	0	SLC9A4	102507988	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	3.351000	0.52232	2.765000	0.95021	0.643000	0.83706	CGC		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		A	103141556	G	A	103141556	3	1	166	1	0	0	0	0	1	0	0	0	14716	1087	38	1	1930	1	SLC9A4	2	103141556	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	81909108	103141556	140057817	18	11753											
EEFSEC	60678	broad.mit.edu	37	chr3	127981028	127981028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggggaccagaggccccCgaaactgaagctccacaggg	10	2	15	14	2	0	2	0	1	0	1	1	4	1	3	5	5	2	1	5	5	2	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:127981028C>T	ENST00000254730.6	+	3	636	c.582C>T	c.(580-582)ccC>ccT	p.P194P	EEFSEC_ENST00000483457.1_Silent_p.P194P	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	194	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CAGAGGCCCCCGAAACTGAAG	0.562																																						uc003eki.3																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(580-582)ccC>ccT		Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.							87	100	96					3																	127981028		2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127981028C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.582C>T	3.37:g.127981028C>T							p.P194P	NM_021937	NP_068756	P57772	SELB_HUMAN			2	620	+			194					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.582C>T	CCDS33849.1																																																																																				0.562	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	127981028	C	T	127981028	2	4	166	1	0	0	0	0	0	0	0	1	4931	639	23	2		2	EEFSEC	3	127981028	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08		127981028	70041402	19	11754											
INTU	27152	broad.mit.edu	37	chr4	128564761	128564761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgaagaagaaagcCtccttcctgagacaccaact	14	7	10	10	0	0	5	0	3	0	3	2	7	2	6	4	1	2	0	4	1	4	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr4:128564761C>G	ENST00000335251.6	+	2	335	c.232C>G	c.(232-234)Ctc>Gtc	p.L78V	INTU_ENST00000296461.5_Missense_Mutation_p.L78V	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	78					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGAAGAAAGCCTCCTTCCTGA	0.393																																						uc003ifk.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(232-234)Ctc>Gtc		Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.							168	182	177					4																	128564761		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128564761C>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.232C>G	4.37:g.128564761C>G	ENSP00000334003:p.Leu78Val					INTU_uc011cgq.2_Non-coding_Transcript	p.L78V	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			1	335	+			78					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.232C>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735108	0.48939	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.49720	0.77	5.1	3.33	0.38152	.	0.288376	0.33834	N	0.004501	T	0.43188	0.1236	M	0.70275	2.135	0.44595	D	0.997562	B	0.18310	0.027	B	0.16289	0.015	T	0.37197	-0.9716	10	0.52906	T	0.07	-0.9196	6.3086	0.21153	0.1264:0.5591:0.2451:0.0695	.	78	Q9ULD6	PDZD6_HUMAN	V	59;78;78	ENSP00000296461:L78V	ENSP00000296461:L78V	L	+	1	0	INTU	128784211	0.998000	0.40836	0.997000	0.53966	0.982000	0.71751	1.287000	0.33284	0.695000	0.31675	0.655000	0.94253	CTC		0.393	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		G	128564761	C	G	128564761	3	3	166	1	0	0	0	0	1	0	0	0	7786	681	24	5	238	5	INTU	4	128564761	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		128564761	62589515	20	11755											
ELOVL7	79993	broad.mit.edu	37	chr5	60060144	60060144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttggctatttttcttgcGcagaacaaaaaagatctgaa	14	12	7	8	1	2	3	0	1	2	2	2	3	2	3	0	1	2	2	0	1	6	5	rs200379193		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:60060144G>A	ENST00000508821.1	-	7	723	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ELOVL7_ENST00000505959.1_Missense_Mutation_p.R124C|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R137C|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R137C	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	137					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTTTCTTGCGCAGAACAAAA	0.348																																						uc003jsi.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(409-411)Cgc>Tgc		Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.							67	65	66					5																	60060144		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60060144G>A	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.409C>T	5.37:g.60060144G>A	ENSP00000424123:p.Arg137Cys					ELOVL7_uc011cqo.2_Missense_Mutation_p.R50C|ELOVL7_uc010iwk.3_Missense_Mutation_p.R137C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R124C	p.R137C	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			6	609	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	137					Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.409C>T	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218426	0.79464	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86251	0.1649	10	0.87932	D	0	-9.6232	18.471	0.90774	0.0:0.0:1.0:0.0	.	124;137	D6RHD0;A1L3X0	.;ELOV7_HUMAN	C	137;137;137;124;137;137	ENSP00000424123:R137C;ENSP00000411255:R137C;ENSP00000402634:R137C;ENSP00000421043:R124C;ENSP00000426400:R137C;ENSP00000424081:R137C	ENSP00000402634:R137C	R	-	1	0	ELOVL7	60095901	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.569000	0.67391	2.606000	0.88127	0.650000	0.86243	CGC		0.348	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			A	60060144	G	A	60060144	3	1	166	1	0	0	0	0	1	0	0	0	5079	1087	38	1	448	1	ELOVL7	5	60060144	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		60060144	120855116	21	11756											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725076	140725076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcacttatgcattgacCgaggacactctccagggggc	9	8	11	13	2	2	1	1	1	1	0	3	3	2	2	2	3	1	2	2	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140725076C>T	ENST00000253812.6	+	1	1476	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATTGACCGAGGACACTC	0.542																																						uc003ljm.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1474-1476)acC>acT		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							75	84	81					5																	140725076		2082	4238	6320	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725076C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1476C>T	5.37:g.140725076C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T492T	p.T492T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1476	+			494			Cadherin 5.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1476C>T	CCDS47290.1																																																																																				0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725076	C	T	140725076	2	4	166	1	0	0	0	0	0	0	0	1	11555	639	23	2		2	PCDHGA3	5	140725076	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	80664932	140725076	40190184	22	11757											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755737	140755737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggtggccgcggtctcctgcg	2	10	16	13	4	2	0	0	0	2	0	3	0	2	0	3	6	2	1	3	6	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140755737C>T	ENST00000517434.1	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672																																						uc003ljy.2																			0		p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2086-2088)gCg>gTg		Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.							58	67	64					5																	140755737		2202	4293	6495	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755737C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2087C>T	5.37:g.140755737C>T	ENSP00000429601:p.Ala696Val					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.A696V	p.A696V	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2087	+			697					A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2087C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.957947	0.92726	.	.	ENSG00000253731	ENST00000517434	T	0.25250	1.81	5.02	5.02	0.67125	.	0.000000	0.30890	U	0.008674	T	0.65760	0.2722	H	0.96547	3.84	0.37617	D	0.921163	D;D	0.89917	1.0;0.996	D;D	0.75020	0.985;0.965	T	0.79916	-0.1601	10	0.87932	D	0	.	18.889	0.92391	0.0:1.0:0.0:0.0	.	696;696	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	V	696	ENSP00000429601:A696V	ENSP00000429601:A696V	A	+	2	0	PCDHGA6	140735921	1.000000	0.71417	0.967000	0.41034	0.819000	0.46315	4.781000	0.62389	2.767000	0.95098	0.563000	0.77884	GCG		0.672	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		T	140755737	C	T	140755737	3	4	166	1	0	0	0	0	1	0	0	0	11558	768	27	1	2089	1	PCDHGA6	5	140755737	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	30661	140755737	40159523	23	11758											
FAT2	2196	broad.mit.edu	37	chr5	150942915	150942915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatcataaagaatcccAtgtagttcccactggtgatg	12	11	10	8	0	1	3	1	2	0	1	3	3	3	3	2	2	0	2	2	2	5	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:150942915A>G	ENST00000261800.5	-	2	3557	c.3545T>C	c.(3544-3546)aTg>aCg	p.M1182T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1182	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAATCCCATGTAGTTCCC	0.512																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3544-3546)aTg>aCg		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							88	90	89					5																	150942915		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150942915A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3545T>C	5.37:g.150942915A>G	ENSP00000261800:p.Met1182Thr					FAT2_uc010jhx.1_Missense_Mutation_p.M1182T	p.M1182T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3558	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1182			Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3545T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	8.959	0.970177	0.18659	.	.	ENSG00000086570	ENST00000261800	T	0.50001	0.76	5.03	2.36	0.29203	Cadherin (4);Cadherin-like (1);	0.995923	0.08140	N	0.991701	T	0.27866	0.0686	N	0.12471	0.22	0.20563	N	0.999889	B	0.09022	0.002	B	0.09377	0.004	T	0.19745	-1.0296	10	0.13470	T	0.59	.	9.0575	0.36414	0.4633:0.0:0.0:0.5367	.	1182	Q9NYQ8	FAT2_HUMAN	T	1182	ENSP00000261800:M1182T	ENSP00000261800:M1182T	M	-	2	0	FAT2	150923108	0.550000	0.26489	0.848000	0.33437	0.945000	0.59286	1.379000	0.34340	0.828000	0.34709	0.459000	0.35465	ATG		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150942915	A	G	150942915	3	3	166	1	0	0	0	0	1	0	0	0	5690	217	8	4	9592	4	FAT2	5	150942915	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08	10187178	150942915	29972345	24	11759											
GPR116	221395	broad.mit.edu	37	chr6	46826522	46826522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccggttcttggtcaccgAtttccacaccacagcttcca	8	11	7	15	2	2	0	1	0	1	0	5	1	5	0	5	2	1	2	5	2	0	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:46826522A>T	ENST00000283296.7	-	17	3406	c.3118T>A	c.(3118-3120)Tcg>Acg	p.S1040T	GPR116_ENST00000265417.7_Missense_Mutation_p.S1040T|GPR116_ENST00000362015.4_Missense_Mutation_p.S1040T|GPR116_ENST00000545669.1_Missense_Mutation_p.S469T|GPR116_ENST00000456426.2_Missense_Mutation_p.S898T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1040					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGGTCACCGATTTCCACACC	0.507																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3118-3120)Tcg>Acg		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							52	52	52					6																	46826522		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826522A>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3118T>A	6.37:g.46826522A>T	ENSP00000283296:p.Ser1040Thr					GPR116_uc011dwj.1_Missense_Mutation_p.S595T|GPR116_uc011dwk.1_Missense_Mutation_p.S469T|GPR116_uc003oyp.3_Missense_Mutation_p.S898T|GPR116_uc003oyq.3_Missense_Mutation_p.S1040T|GPR116_uc010jzi.1_Missense_Mutation_p.S712T	p.S1040T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		16	3407	-			1040					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3118T>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.454000	0.26161	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.61	5.61	0.85477	GPCR, family 2-like (1);	0.131367	0.35151	N	0.003412	T	0.20373	0.0490	L	0.39397	1.21	0.09310	N	1	P;B;P;B;P	0.48407	0.532;0.236;0.91;0.198;0.91	B;B;P;B;P	0.46917	0.263;0.261;0.531;0.257;0.531	T	0.06643	-1.0815	10	0.31617	T	0.26	-12.122	12.0988	0.53772	0.8716:0.0:0.0:0.1284	.	469;595;1040;898;1040	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	1040;1040;1040;898;411;1040;469	ENSP00000283296:S1040T;ENSP00000354563:S1040T;ENSP00000412866:S898T;ENSP00000265417:S1040T;ENSP00000441581:S469T	ENSP00000265417:S1040T	S	-	1	0	GPR116	46934481	0.003000	0.15002	0.987000	0.45799	0.793000	0.44817	1.173000	0.31920	2.135000	0.66039	0.528000	0.53228	TCG		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		T	46826522	A	T	46826522	3	4	166	1	0	0	0	0	1	0	0	0	6633	333	12	5	942	5	GPR116	6	46826522	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08		46826522	124288545	25	11760											
MANEA	79694	broad.mit.edu	37	chr6	96054014	96054014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaacacgcaaaacactcgGaaccgaatcaatgggaagta	17	5	10	9	3	1	0	1	0	0	0	2	4	1	3	1	3	3	2	1	3	8	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:96054014G>A	ENST00000358812.4	+	5	1256	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	374	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAAACACTCGGAACCGAATCA	0.408																																						uc003poo.2																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1120-1122)cgG>cgA		Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.							98	106	103					6																	96054014		2203	4300	6503	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054014G>A	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1122G>A	6.37:g.96054014G>A							p.R374R	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	4	1302	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	374			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.1122G>A	CCDS5032.1																																																																																				0.408	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		A	96054014	G	A	96054014	2	1	166	1	0	0	0	0	0	0	0	1	9221	1161	41	3		3	MANEA	6	96054014	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	49227492	96054014	75061053	26	11761											
SLC22A16	85413	broad.mit.edu	37	chr6	110768146	110768146	+	Frame_Shift_Del	DEL	A	A	-																															acgccgctgctattccaaacAaaaacatgctactgcttgtg																										TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:110768146delA	ENST00000368919.3	-	3	647	c.581delT	c.(580-582)ttgfs	p.L194fs	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Frame_Shift_Del_p.L160fs|SLC22A16_ENST00000439654.1_Frame_Shift_Del_p.L194fs	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	194					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TATTCCAAACAAAAACATGCT	0.433																																						uc003puf.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(580-582)ttgfs		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.							79	73	75					6																	110768146		2203	4300	6503	SO:0001589	frameshift_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110768146delA		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.581delT	6.37:g.110768146delA	ENSP00000357915:p.Leu194fs					SLC22A16_uc003pue.3_Frame_Shift_Del_p.L175fs	p.L194fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	648	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	194					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Frame_Shift_Del	DEL	ENST00000368919.3	37	c.581delT	CCDS5084.1																																																																																				0.433	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		-	110768146	A	-	110768146	7	5	166	1	0	1	0	1	0	0	0	0	14447	131	5	0	1176	0	SLC22A16	6	110768146	Frame_Shift_Del	DEL	A	TCGA-19-5953-01B-12D-1845-08	14714132	110768146	60346921	27	11762											
OLIG3	167826	broad.mit.edu	37	chr6	137815222	137815222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcctggtggtggtggTggcggtggtggtggtccctc	0	12	20	9	1	1	0	0	0	1	0	4	0	2	0	2	10	0	1	2	10	0	0	rs541674248	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:137815222T>C	ENST00000367734.2	-	1	309	c.86A>G	c.(85-87)cAc>cGc	p.H29R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	29	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggtggcggtggtg	0.577																																						uc003qhp.1																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(85-87)cAc>cGc		Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.							52	56	55					6																	137815222		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815222T>C	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.86A>G	6.37:g.137815222T>C	ENSP00000356708:p.His29Arg						p.H29R	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	0	310	-	Breast(32;0.165)|Colorectal(23;0.24)		29			Poly-His.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.86A>G	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084187	0.36758	.	.	ENSG00000177468	ENST00000367734	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.101283	0.41712	D	0.000831	D	0.97018	0.9026	N	0.08118	0	0.50039	D	0.999842	D	0.53885	0.963	P	0.52454	0.699	D	0.97379	0.9981	10	0.21540	T	0.41	-5.4979	13.9229	0.63942	0.0:0.0:0.0:1.0	.	29	Q7RTU3	OLIG3_HUMAN	R	29	ENSP00000356708:H29R	ENSP00000356708:H29R	H	-	2	0	OLIG3	137856915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.657000	0.61490	2.095000	0.63458	0.482000	0.46254	CAC		0.577	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		C	137815222	T	C	137815222	3	2	166	1	0	0	0	0	1	0	0	0	10862	1696	59	4	736	4	OLIG3	6	137815222	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08	27047076	137815222	33299845	28	11763											
REPS1	85021	broad.mit.edu	37	chr6	139266737	139266737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggaattacaccagaataCgacccttgattttcagaatc	13	10	9	9	1	1	3	1	1	0	2	2	5	1	4	2	2	2	0	2	2	5	5	rs372546561		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:139266737C>T	ENST00000450536.2	-	3	949	c.375G>A	c.(373-375)tcG>tcA	p.S125S	REPS1_ENST00000258062.5_Silent_p.S125S|REPS1_ENST00000415951.2_Silent_p.S125S|REPS1_ENST00000367663.4_Silent_p.S125S|REPS1_ENST00000409812.2_Silent_p.S125S|REPS1_ENST00000531675.1_5'Flank			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	125					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACCAGAATACGACCCTTGAT	0.483																																						uc003qii.3																			0		p.H124N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(373-375)tcG>tcA		Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	142	135	138		375,375	-3.5	0.5	6		138	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	REPS1	NM_001128617.1,NM_031922.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	125/770,125/796	139266737	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266737C>T		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.375G>A	6.37:g.139266737C>T						REPS1_uc003qig.4_Silent_p.S125S|REPS1_uc011edr.2_Silent_p.S125S|REPS1_uc003qij.3_Silent_p.S125S|REPS1_uc003qik.3_5'UTR	p.S125S	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	2	954	-			125					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	37	c.375G>A																																																																																					0.483	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			T	139266737	C	T	139266737	2	4	166	1	0	0	0	0	0	0	0	1	13228	523	19	1		1	REPS1	6	139266737	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	1451515	139266737	31848330	29	11764											
PCLO	27445	broad.mit.edu	37	chr7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgatcttttcttgttctCggaacctttgaatttcctga	7	18	6	10	1	3	3	0	3	3	0	5	4	4	4	3	1	1	1	3	1	2	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:82580167C>T	ENST00000333891.9	-	6	10074	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.R3246Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3246L(2)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473																																						uc003uhx.2																			3	Substitution - Missense(3)	p.R3246L(3)|p.R3246R(1)|p.R3177L(1)	lung(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9736-9738)cGa>cAa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							89	85	86					7																	82580167		1867	4114	5981	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580167C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9737G>A	7.37:g.82580167C>T	ENSP00000334319:p.Arg3246Gln					PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.3_Missense_Mutation_p.R211Q	p.R3246Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	10026	-			3177			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9737G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147623	0.37923	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.59772	0.24;0.27	5.45	5.45	0.79879	.	.	.	.	.	T	0.77096	0.4080	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.77557	0.886;0.99;0.99	T	0.79482	-0.1785	9	0.87932	D	0	.	18.8749	0.92331	0.0:1.0:0.0:0.0	.	3177;3246;3246	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3177;3246;3246	ENSP00000334319:R3246Q;ENSP00000388393:R3246Q	ENSP00000334319:R3246Q	R	-	2	0	PCLO	82418103	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.792000	0.85828	2.565000	0.86533	0.462000	0.41574	CGA		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82580167	C	T	82580167	3	4	166	1	0	0	0	0	1	0	0	0	11583	884	31	2	5788	2	PCLO	7	82580167	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		82580167	76558496	30	11765											
ABCB1	5243	broad.mit.edu	37	chr7	87174224	87174224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctttttcttattagactgGatcttgaatcatttgaagac	11	18	6	6	0	4	4	1	2	3	2	4	5	4	5	0	1	0	0	0	1	4	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:87174224G>C	ENST00000265724.3	-	17	2396	c.1979C>G	c.(1978-1980)tCc>tGc	p.S660C	ABCB1_ENST00000543898.1_Missense_Mutation_p.S596C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	660					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATTAGACTGGATCTTGAATC	0.388																																						uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1978-1980)tCc>tGc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						131	120	123					7																	87174224		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174224G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1979C>G	7.37:g.87174224G>C	ENSP00000265724:p.Ser660Cys					ABCB1_uc011khc.2_Missense_Mutation_p.S596C	p.S660C	NM_000927	NP_000918	P08183	MDR1_HUMAN			16	2472	-	Esophageal squamous(14;0.00164)		660					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1979C>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753869	0.49362	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88277	-2.35;-2.36	5.75	5.75	0.90469	.	11.850800	0.00166	N	0.000000	D	0.93141	0.7816	M	0.65975	2.015	0.47621	D	0.999476	B;D	0.67145	0.03;0.996	B;P	0.51999	0.019;0.687	T	0.82343	-0.0504	10	0.59425	D	0.04	-15.8321	15.4381	0.75162	0.0:0.0:1.0:0.0	.	596;660	B5AK60;P08183	.;MDR1_HUMAN	C	441;660;596	ENSP00000265724:S660C;ENSP00000444095:S596C	ENSP00000265724:S660C	S	-	2	0	ABCB1	87012160	0.928000	0.31464	0.992000	0.48379	0.862000	0.49288	2.370000	0.44240	2.732000	0.93576	0.650000	0.86243	TCC		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		C	87174224	G	C	87174224	3	2	166	1	0	0	0	0	1	0	0	0	40	1174	41	5	1915	5	ABCB1	7	87174224	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	4594057	87174224	71964439	31	11766											
COL1A2	1278	broad.mit.edu	37	chr7	94039107	94039107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgttggtgctgccGgtgctactggtgccagagga	4	10	16	11	1	0	1	0	0	0	1	0	2	0	2	3	5	5	3	3	5	1	2	rs67865220		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:94039107G>A	ENST00000297268.6	+	19	1480	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	337			G -> C (in OI3). {ECO:0000269|PubMed:10408781}.|G -> S (in OI3). {ECO:0000269|PubMed:8829649}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTGCCGGTGCTACTGG	0.557										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CM070788|CM960326|CM970356|CP015771	COL1A2	M|X	rs67865220	c.(1009-1011)Ggt>Agt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						110	104	106					7																	94039107		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039107G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1009G>A	7.37:g.94039107G>A	ENSP00000297268:p.Gly337Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G337S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	1480	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		337		G -> C (in OI3).|G -> S (in OI3).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1009G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767603	0.90020	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99167	-5.51	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97837	1.0266	10	0.87932	D	0	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	337	P08123	CO1A2_HUMAN	S	337;338	ENSP00000297268:G337S	ENSP00000297268:G337S	G	+	1	0	COL1A2	93877043	1.000000	0.71417	0.999000	0.59377	0.708000	0.40852	9.411000	0.97342	2.861000	0.98227	0.655000	0.94253	GGT		0.557	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94039107	G	A	94039107	3	1	166	1	0	0	0	0	1	0	0	0	3678	1116	39	2	1083	2	COL1A2	7	94039107	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	6864883	94039107	65099556	32	11767											
C7orf43	55262	broad.mit.edu	37	chr7	99753440	99753440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgctcctcctcacacaGctgctttcctgggggcagaa	6	8	11	16	2	1	1	1	0	0	1	4	1	4	1	4	3	2	4	4	3	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99753440G>A	ENST00000316937.3	-	9	1434	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	C7orf43_ENST00000498638.1_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_Silent_p.L185L|C7orf43_ENST00000457641.1_Silent_p.L148L|C7orf43_ENST00000394035.2_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	417										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCACACAGCTGCTTTCCT	0.612																																						uc003utr.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1249-1251)Ctg>Ttg		Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.							41	39	40					7																	99753440		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99753440G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1249C>T	7.37:g.99753440G>A						C7orf43_uc010lgo.3_Silent_p.L43L|C7orf43_uc010lgp.3_Silent_p.L39L|C7orf43_uc011kjj.2_Silent_p.L185L|C7orf43_uc003uts.3_Silent_p.L148L	p.L417L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			8	1429	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		417					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.1249C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660553	0.47572	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.66	4.78	0.61160	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60515	-0.7248	4	.	.	.	-11.7797	10.5546	0.45110	0.0892:0.0:0.9108:0.0	.	.	.	.	V	322	.	.	A	-	2	0	C7orf43	99591376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.731000	0.68554	1.397000	0.46682	0.561000	0.74099	GCT		0.612	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		A	99753440	G	A	99753440	2	1	166	1	0	0	0	0	0	0	0	1	2393	962	34	3		3	C7orf43	7	99753440	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	5714333	99753440	59385223	33	11768											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998739	99998739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatcttccatgagttgCtccaggtccaggtcactgga	9	10	9	13	0	2	1	1	1	1	0	5	2	5	2	4	3	2	2	4	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99998739C>T	ENST00000398027.2	-	18	2092	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ZCWPW1_ENST00000324725.6_Silent_p.E444E|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Silent_p.E444E	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	615							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGAGTTGCTCCAGGTCCA	0.612																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1843-1845)gaG>gaA		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							49	52	51					7																	99998739		2026	4199	6225	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998739C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1845G>A	7.37:g.99998739C>T						ZCWPW1_uc011kjq.2_Silent_p.E495E|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Silent_p.E444E|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	p.E615E	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			17	2093	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		615					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1845G>A	CCDS43623.1																																																																																				0.612	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		T	99998739	C	T	99998739	2	4	166	1	0	0	0	0	0	0	0	1	17594	796	28	3		3	ZCWPW1	7	99998739	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	245299	99998739	59139924	34	11769											
MUC17	140453	broad.mit.edu	37	chr7	100677675	100677675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacacctgtcagccacaCgctggtggccaattctgagg	10	7	11	13	1	2	1	1	1	1	0	2	1	2	1	3	3	2	2	3	3	2	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:100677675C>T	ENST00000306151.4	+	3	3042	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	993	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCCACACGCTGGTGGCC	0.512																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2977-2979)aCg>aTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							355	318	331					7																	100677675		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677675C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2978C>T	7.37:g.100677675C>T	ENSP00000302716:p.Thr993Met					MUC17_uc010lho.1_Non-coding_Transcript	p.T993M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	3031	+	Lung NSC(181;0.136)|all_lung(186;0.182)		993			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2978C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.825581	0.00071	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.373	-0.746	0.11095	.	.	.	.	.	T	0.01489	0.0048	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	B	0.31812	0.136	T	0.40496	-0.9560	8	0.39692	T	0.17	.	.	.	.	.	993	Q685J3	MUC17_HUMAN	M	993	ENSP00000302716:T993M	ENSP00000302716:T993M	T	+	2	0	MUC17	100464395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-3.214000	0.00213	-3.604000	0.00028	ACG		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677675	C	T	100677675	3	4	166	1	0	0	0	0	1	0	0	0	9974	536	19	1	2988	1	MUC17	7	100677675	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	678936	100677675	58460988	35	11770											
OR2A25	392138	broad.mit.edu	37	chr7	143772171	143772171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcccatgcttaatcccCtaatttatagtcttaggaac	12	14	4	11	0	2	0	1	0	1	0	4	1	4	1	3	1	2	1	3	1	7	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:143772171C>T	ENST00000408898.2	+	1	897	c.859C>T	c.(859-861)Cta>Tta	p.L287L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTTAATCCCCTAATTTATAG	0.413																																						uc011ktx.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(859-861)Cta>Tta		Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.							187	208	201					7																	143772171		2199	4298	6497	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772171C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.859C>T	7.37:g.143772171C>T							p.L287L	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			0	859	+	Melanoma(164;0.0783)		287					B2RNC9	Silent	SNP	ENST00000408898.2	37	c.859C>T	CCDS43669.1																																																																																				0.413	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			T	143772171	C	T	143772171	2	4	166	1	0	0	0	0	0	0	0	1	10978	680	24	3		3	OR2A25	7	143772171	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	43094496	143772171	15366492	36	11771											
DEPDC6	64798	broad.mit.edu	37	chr8	121021282	121021282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagattgttggtgacgcGgttggctggggttttgtggt	3	16	17	5	2	1	2	0	1	1	1	1	2	1	2	0	6	0	4	0	6	1	6	rs544954637		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:121021282G>A	ENST00000286234.5	+	8	1141	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.A236A	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	337	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGGTGACGCGGTTGGCTGGG	0.542													G|||	1	0.000199681	0	0	5008	,	,		16338	0		0.001	False		,,,				2504	0					uc003yow.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1009-1011)gcG>gcA		Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.							169	112	132					8																	121021282		2203	4300	6503	SO:0001819	synonymous_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:121021282G>A		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.1011G>A	8.37:g.121021282G>A						DEPTOR_uc011lid.2_Silent_p.A236A	p.A337A	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN			7	1198	+			337			PDZ.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	c.1011G>A	CCDS6331.1																																																																																				0.542	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		A	121021282	G	A	121021282	2	1	166	1	0	0	0	0	0	0	0	1	4443	1103	39	2		2	DEPDC6	8	121021282	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08		121021282	25342740	37	11772											
FAM83H	286077	broad.mit.edu	37	chr8	144808270	144808270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgctctccatgcggcGcagcagccgatcgcgctcct	5	7	12	17	6	1	0	0	0	1	0	4	1	2	0	3	1	4	5	3	1	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:144808270G>A	ENST00000388913.3	-	5	3486	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1121					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCATGCGGCGCAGCAGCCGA	0.677																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3361-3363)Cgc>Tgc		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							10	12	12					8																	144808270		1999	4132	6131	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808270G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3361C>T	8.37:g.144808270G>A	ENSP00000373565:p.Arg1121Cys						p.R1121C	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	3430	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1121					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3361C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	18.97	3.734942	0.69189	.	.	ENSG00000180921	ENST00000388913	T	0.18174	2.23	4.96	4.96	0.65561	.	0.141767	0.30890	U	0.008672	T	0.16938	0.0407	L	0.29908	0.895	0.41222	D	0.986517	D	0.76494	0.999	P	0.47528	0.549	T	0.01074	-1.1460	10	0.87932	D	0	.	11.1612	0.48516	0.0:0.0:0.7037:0.2963	.	1121	Q6ZRV2	FA83H_HUMAN	C	1121	ENSP00000373565:R1121C	ENSP00000373565:R1121C	R	-	1	0	FAM83H	144880258	1.000000	0.71417	0.966000	0.40874	0.919000	0.55068	3.858000	0.55979	2.304000	0.77564	0.556000	0.70494	CGC		0.677	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		A	144808270	G	A	144808270	3	1	166	1	0	0	0	0	1	0	0	0	5640	1087	38	1	182	1	FAM83H	8	144808270	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	23786988	144808270	1555752	38	11773											
TAF1L	138474	broad.mit.edu	37	chr9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagatcctgaggtgtgcGcataaaaaacaactctccac	13	9	9	10	1	1	2	0	2	1	1	3	3	2	2	2	1	3	1	2	1	4	1	rs147409173		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:32633525G>A	ENST00000242310.4	-	1	2142	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R685C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448																																						uc003zrg.1																			1	Substitution - Missense(1)	p.R685C(2)|p.R685L(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2053-2055)Cgc>Tgc		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.		G	CYS/ARG	0,4406		0,0,2203	180	164	169		2053	0.6	1	9	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	685/1827	32633525	1,13005	2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633525G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2053C>T	9.37:g.32633525G>A	ENSP00000418379:p.Arg685Cys					AX747113_uc003zrh.1_Non-coding_Transcript	p.R685C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	2143	-			685					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2053C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896532	0.72639	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.10288	2.89	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09773	-1.0659	10	0.87932	D	0	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	685	Q8IZX4	TAF1L_HUMAN	C	685	ENSP00000418379:R685C	ENSP00000418379:R685C	R	-	1	0	TAF1L	32623525	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.377000	0.52425	0.632000	0.30432	0.195000	0.17529	CGC		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32633525	G	A	32633525	3	1	166	1	0	0	0	0	1	0	0	0	15520	1087	38	1	3431	1	TAF1L	9	32633525	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		32633525	108579906	39	11774											
STRBP	55342	broad.mit.edu	37	chr9	125909182	125909182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttggatggtcctgaggcTtcatatgttgtgccatccac	6	15	10	10	0	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	1	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:125909182T>C	ENST00000348403.5	-	13	1719	c.1290A>G	c.(1288-1290)gaA>gaG	p.E430E	STRBP_ENST00000447404.2_Silent_p.E430E|STRBP_ENST00000360998.3_Silent_p.E416E	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	430	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTCCTGAGGCTTCATATGTTG	0.433																																						uc004bns.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(1288-1290)gaA>gaG		Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.							149	136	140					9																	125909182		2203	4300	6503	SO:0001819	synonymous_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125909182T>C	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1290A>G	9.37:g.125909182T>C						STRBP_uc004bnt.3_Silent_p.E248E|STRBP_uc004bnu.3_Silent_p.E416E|STRBP_uc004bnv.3_Silent_p.E430E	p.E430E	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN			12	1732	-			430			DRBM 1.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	c.1290A>G	CCDS6851.1																																																																																				0.433	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			C	125909182	T	C	125909182	2	2	166	1	0	0	0	0	0	0	0	1	15326	1606	56	4		4	STRBP	9	125909182	Silent	SNP	T	TCGA-19-5953-01B-12D-1845-08	93275657	125909182	15304249	40	11775											
PTEN	5728	broad.mit.edu	37	chr10	89692893	89692893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaattcactgtaaagCtggaaagggacgaactggtg	13	8	13	7	1	1	0	1	0	0	0	1	3	1	2	0	3	4	4	0	3	5	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:89692893C>T	ENST00000371953.3	+	5	1734	c.377C>T	c.(376-378)gCt>gTt	p.A126V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	126	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		56	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.A126D(6)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.A126V(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.K125N(2)|p.A126S(2)|p.A126P(2)|p.K125E(2)|p.Y27_N212>Y(2)|p.A126fs*8(1)|p.K125*(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|endometrium(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(376-378)gCt>gTt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141	130	133					10																	89692893		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692893C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.377C>T	10.37:g.89692893C>T	ENSP00000361021:p.Ala126Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.A126V	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1409	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	126			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.377C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424416	0.96111	.	.	ENSG00000171862	ENST00000371953	D	0.99158	-5.5	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97426	1.0012	9	.	.	.	-8.4283	18.7776	0.91918	0.0:1.0:0.0:0.0	.	126	P60484	PTEN_HUMAN	V	126	ENSP00000361021:A126V	.	A	+	2	0	PTEN	89682873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	GCT		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692893	C	T	89692893	3	4	166	1	0	0	0	0	1	0	0	0	12738	797	28	3	395	3	PTEN	10	89692893	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		89692893	45841854	41	11776											
PDE3B	5140	broad.mit.edu	37	chr11	14839801	14839801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactggctctctaactaatcGatcacccatagaatttcctg	11	13	5	12	1	2	1	1	0	1	1	5	2	3	1	2	1	2	1	2	1	5	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:14839801G>A	ENST00000282096.4	+	6	1948	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	PDE3B_ENST00000455098.2_Missense_Mutation_p.R481Q	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	532					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.R532Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CTAACTAATCGATCACCCATA	0.388																																						uc001mln.3																			1	Substitution - Missense(1)	p.R532Q(2)	endometrium(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1594-1596)cGa>cAa		Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.							70	64	66					11																	14839801		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14839801G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1595G>A	11.37:g.14839801G>A	ENSP00000282096:p.Arg532Gln					PDE3B_uc010rcr.2_Missense_Mutation_p.R481Q	p.R532Q	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			5	1948	+			532					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1595G>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799204	0.31869	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.32988	1.43;1.43	5.42	2.38	0.29361	.	5.610350	0.00166	N	0.000001	T	0.32971	0.0847	M	0.63843	1.955	0.32803	D	0.500355	B;B	0.23735	0.09;0.09	B;B	0.13407	0.009;0.009	T	0.38457	-0.9660	10	0.12430	T	0.62	.	10.187	0.43004	0.2304:0.0:0.7696:0.0	.	481;532	B7ZM37;Q13370	.;PDE3B_HUMAN	Q	532;481	ENSP00000282096:R532Q;ENSP00000388644:R481Q	ENSP00000282096:R532Q	R	+	2	0	PDE3B	14796377	1.000000	0.71417	0.933000	0.37362	0.494000	0.33585	2.726000	0.47302	0.600000	0.29862	0.305000	0.20034	CGA		0.388	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		A	14839801	G	A	14839801	3	1	166	1	0	0	0	0	1	0	0	0	11638	1058	37	2	1617	2	PDE3B	11	14839801	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		14839801	120166715	42	11777											
OR5T3	390154	broad.mit.edu	37	chr11	56020021	56020021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatgttggtcaatttcCtggcaaaaaataaatccatt	17	12	5	7	0	1	0	1	0	0	0	3	0	3	0	2	2	0	2	2	2	8	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:56020021C>T	ENST00000303059.3	+	1	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGTCAATTTCCTGGCAAAAAA	0.368																																						uc010rjd.2																			0		p.F115F(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(346-348)Ctg>Ttg		Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.							136	137	136					11																	56020021		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020021C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.346C>T	11.37:g.56020021C>T							p.L116L	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			0	346	+	Esophageal squamous(21;0.00448)		116					Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.346C>T	CCDS31524.1																																																																																				0.368	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		T	56020021	C	T	56020021	2	4	166	1	0	0	0	0	0	0	0	1	11183	680	24	3		3	OR5T3	11	56020021	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	41180220	56020021	78986495	43	11778											
SHANK2	22941	broad.mit.edu	37	chr11	70319235	70319235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtatcgagggggatggCgacctactgcgtcccgctgg	6	8	16	11	4	0	0	0	0	0	0	2	3	1	1	2	4	3	3	2	4	2	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:70319235C>T	ENST00000423696.2	-	16	4188	c.4152G>A	c.(4150-4152)tcG>tcA	p.S1384S	SHANK2_ENST00000449833.2_Silent_p.S1168S|SHANK2_ENST00000338508.4_Silent_p.S1764S|SHANK2_ENST00000409161.1_Silent_p.S1167S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1384					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGGGGATGGCGACCTACTGC	0.537																																						uc001oqc.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5089-5091)tcG>tcA		Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.							95	99	97					11																	70319235		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319235C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4152G>A	11.37:g.70319235C>T						SHANK2_uc010rqn.2_Silent_p.S1173S|SHANK2_uc001opz.3_Silent_p.S1168S|BC127192_uc009ysn.1_Silent_p.G45G|SHANK2_uc001opy.3_Silent_p.S99S|SHANK2_uc021qmr.1_Non-coding_Transcript	p.S1697S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	5203	-			1384					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.5091G>A																																																																																					0.537	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		T	70319235	C	T	70319235	2	4	166	1	0	0	0	0	0	0	0	1	14265	755	27	1		1	SHANK2	11	70319235	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	14299214	70319235	64687281	44	11779											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276821	71276910	+	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-																															gccagcctgttcctgctccaGctgtggctcctgtgggggct																								rs71473841|rs12289712|rs12788123|rs34154361|rs528994893|rs111331435|rs145089413|rs12793134|rs200707146|rs113426209|rs12792973|rs561795826|rs146095815|rs71272260|rs201070584|rs12787188|rs111692708|rs201034939	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	ENST00000398531.1	+	1	213_302	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc	p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del	KRTAP5-10_ENST00000376536.4_Splice_Site_p.CGSCGGSKGDC64del	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	64	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G69C(1)|p.K81K(1)|p.G65S(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGCTGTGGCTC	0.676																																						uc001oqt.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.G69C(2)|p.K81K(2)|p.G65S(2)	lung(1)|endometrium(1)|skin(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc		Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.																																				SO:0001651	inframe_deletion	387273					keratin filament		g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	11.37:g.71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	ENSP00000381542:p.Cys64_Gly93del						p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			0	213_302	+			64			7 X 4 AA repeats of C-C-X-P.		B9EHA4	In_Frame_Del	DEL	ENST00000398531.1	37	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	CCDS41684.1																																																																																				0.676	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			-	71276910	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-	71276821	7	5	166	1	0	1	0	1	0	0	0	0	8559	971	34	0	190	0	KRTAP5-10	11	71276821	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	TCGA-19-5953-01B-12D-1845-08	957586	71276821	63729695	45	11780											
SLCO2B1	11309	broad.mit.edu	37	chr11	74876887	74876887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttggcagccgggtgcaccGaccccgaatgattggctatg	7	10	13	11	3	0	1	0	1	0	0	0	3	0	1	4	3	2	3	4	3	2	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:74876887G>A	ENST00000289575.5	+	4	736	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R92Q|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	114					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CGGGTGCACCGACCCCGAATG	0.572																																						uc001owb.3																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(340-342)cGa>cAa		Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	Ergoloid mesylate(DB01049)						162	151	155					11																	74876887		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74876887G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.341G>A	11.37:g.74876887G>A	ENSP00000289575:p.Arg114Gln					SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Missense_Mutation_p.R92Q	p.R114Q	NM_007256	NP_001138683	O94956	SO2B1_HUMAN			3	736	+			114					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.341G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233605	0.79688	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000002	T	0.78978	0.4369	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85364	0.1109	9	.	.	.	.	14.1582	0.65430	0.0:0.0:1.0:0.0	.	114	O94956	SO2B1_HUMAN	Q	114;92;92;92	ENSP00000289575:R114Q;ENSP00000436513:R92Q;ENSP00000433872:R92Q;ENSP00000388912:R92Q	.	R	+	2	0	SLCO2B1	74554535	1.000000	0.71417	0.984000	0.44739	0.376000	0.30014	8.806000	0.91930	2.180000	0.69256	0.563000	0.77884	CGA		0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		A	74876887	G	A	74876887	3	1	166	1	0	0	0	0	1	0	0	0	14727	1058	37	2	355	2	SLCO2B1	11	74876887	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	3600066	74876887	60129629	46	11781											
DRD2	1813	broad.mit.edu	37	chr11	113286210	113286210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgactcgcttgcggCgtctgcggaggacaatgtag	6	11	16	8	4	1	1	0	1	1	0	2	3	1	3	0	4	2	3	0	4	2	3	rs200148328		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:113286210C>T	ENST00000362072.3	-	5	1000	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DRD2_ENST00000544518.1_Missense_Mutation_p.R218H|DRD2_ENST00000346454.3_Missense_Mutation_p.R219H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.R219H|DRD2_ENST00000355319.2_Missense_Mutation_p.R219H|DRD2_ENST00000538967.1_Missense_Mutation_p.R219H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	219	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTTGCGGCGTCTGCGGAG	0.572																																						uc001pnz.3																			0		p.R219C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(655-657)cGc>cAc		Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						170	149	156					11																	113286210		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113286210C>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.656G>A	11.37:g.113286210C>T	ENSP00000354859:p.Arg219His					DRD2_uc010rwv.2_Missense_Mutation_p.R218H|DRD2_uc001poa.4_Missense_Mutation_p.R219H|DRD2_uc001pob.4_Missense_Mutation_p.R219H|DRD2_uc009yyr.1_Missense_Mutation_p.R219H	p.R219H	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	3	977	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	219			Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.656G>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717168	0.96839	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.093417	0.85682	D	0.000000	T	0.62478	0.2431	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.997;0.999	T	0.62760	-0.6786	10	0.59425	D	0.04	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	218;219;219;219	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	H	219;219;219;218;219;219	ENSP00000347474:R219H;ENSP00000278597:R219H;ENSP00000354859:R219H;ENSP00000441068:R218H;ENSP00000442172:R219H;ENSP00000438215:R219H	ENSP00000278597:R219H	R	-	2	0	DRD2	112791420	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.666000	0.90696	0.561000	0.74099	CGC		0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		T	113286210	C	T	113286210	3	4	166	1	0	0	0	0	1	0	0	0	4757	768	27	1	691	1	DRD2	11	113286210	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	38409323	113286210	21720306	47	11782											
GDF3	9573	broad.mit.edu	37	chr12	7842975	7842975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatctccaggaataacccGaaatttttccgggggttgtc	10	12	10	9	2	1	0	0	0	1	0	4	2	2	1	3	3	1	2	3	3	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:7842975G>A	ENST00000329913.3	-	2	641	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	198					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAATAACCCGAAATTTTTCC	0.473																																						uc001qte.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(592-594)ttC>ttT		Homo sapiens growth differentiation factor 3 (GDF3), mRNA.							67	72	70					12																	7842975		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842975G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.594C>T	12.37:g.7842975G>A							p.F198F	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			1	630	-			198					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.594C>T	CCDS8581.1																																																																																				0.473	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			A	7842975	G	A	7842975	2	1	166	1	0	0	0	0	0	0	0	1	6315	1049	37	2		2	GDF3	12	7842975	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08		7842975	126008920	48	11783											
ERP27	121506	broad.mit.edu	37	chr12	15070213	15070213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagatgaatctgaattaCgctgttgaataacccaatca	15	10	9	7	1	2	4	1	3	1	1	2	6	2	4	1	1	2	2	1	1	6	3	rs139573344		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:15070213C>T	ENST00000266397.2	-	5	1048	c.475G>A	c.(475-477)Gta>Ata	p.V159I	ERP27_ENST00000540097.1_Missense_Mutation_p.V58I|ERP27_ENST00000544881.1_5'UTR	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	159						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATCTGAATTACGCTGTTGAAT	0.453													c|||	1	0.000199681	0	0	5008	,	,		21778	0.001		0	False		,,,				2504	0					uc001rco.3																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(475-477)Gta>Ata		Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.		T	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	206	183	190		475	-6.2	0	12	dbSNP_134	190	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERP27	NM_152321.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	159/274	15070213	3,13003	2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15070213C>T	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.475G>A	12.37:g.15070213C>T	ENSP00000266397:p.Val159Ile						p.V159I	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			4	496	-			159						Missense_Mutation	SNP	ENST00000266397.2	37	c.475G>A	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	c	6.178	0.400978	0.11696	4.54E-4	1.16E-4	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.13538	2.58;2.58	5.63	-6.17	0.02091	Thioredoxin-like fold (1);	1.090810	0.06810	N	0.790219	T	0.03434	0.0099	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36792	-0.9733	10	0.37606	T	0.19	2.5955	0.3273	0.00313	0.2071:0.1894:0.2244:0.3791	.	159	Q96DN0	ERP27_HUMAN	I	159;58	ENSP00000266397:V159I;ENSP00000440573:V58I	ENSP00000266397:V159I	V	-	1	0	ERP27	14961480	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.928000	0.03980	-0.795000	0.04462	-1.290000	0.01357	GTA		0.453	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		T	15070213	C	T	15070213	3	4	166	1	0	0	0	0	1	0	0	0	5241	536	19	1	358	1	ERP27	12	15070213	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	7227238	15070213	118781682	49	11784											
CPSF6	11052	broad.mit.edu	37	chr12	69645041	69645041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caactgttggtgatgatgtgGgtaaaggagcagcaccaaat	13	9	13	6	0	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	4	2	rs370987967		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:69645041G>C	ENST00000435070.2	+	2	303	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R	CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.G65R|CPSF6_ENST00000266679.8_Missense_Mutation_p.G65R	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	65					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGATGATGTGGGTAAAGGAGC	0.378																																						uc001sut.4																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(193-195)Ggt>Cgt		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							82	72	75					12																	69645041		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69645041G>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.193G>C	12.37:g.69645041G>C	ENSP00000391774:p.Gly65Arg					CPSF6_uc001suu.4_Missense_Mutation_p.G65R	p.G65R	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		1	303	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		65					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.193G>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202290	0.79127	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.73	4.73	0.59995	.	0.152104	0.64402	D	0.000017	T	0.56232	0.1971	L	0.29908	0.895	0.80722	D	1	P;P	0.48016	0.904;0.498	P;B	0.49887	0.625;0.265	T	0.53005	-0.8499	8	.	.	.	-10.0663	18.5948	0.91226	0.0:0.0:1.0:0.0	.	65;65	Q16630-2;Q16630	.;CPSF6_HUMAN	R	65	.	.	G	+	1	0	CPSF6	67931308	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.239000	0.72356	2.558000	0.86282	0.563000	0.77884	GGT		0.378	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		C	69645041	G	C	69645041	3	2	166	1	0	0	0	0	1	0	0	0	3829	1232	43	5	199	5	CPSF6	12	69645041	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	54574828	69645041	64206854	50	11785											
KIAA1033	23325	broad.mit.edu	37	chr12	105514968	105514968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcacactgaaagaccactgGactatgtacaaaaggtacac	17	7	7	10	0	1	2	1	1	0	1	1	3	1	3	1	2	2	2	1	2	6	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:105514968G>T	ENST00000332180.5	+	9	738	c.651G>T	c.(649-651)tgG>tgT	p.W217C		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGACCACTGGACTATGTACA	0.299																																						uc010swr.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(649-651)tgG>tgT		Homo sapiens KIAA1033 (KIAA1033), mRNA.							96	87	90					12																	105514968		1822	4068	5890	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105514968G>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.651G>T	12.37:g.105514968G>T	ENSP00000328062:p.Trp217Cys					KIAA1033_uc001tld.3_Missense_Mutation_p.W217C|KIAA1033_uc010sws.2_Missense_Mutation_p.W29C	p.W217C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			8	738	+			217						Missense_Mutation	SNP	ENST00000332180.5	37	c.651G>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351595	0.82132	.	.	ENSG00000136051	ENST00000332180	T	0.55588	0.51	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.79203	-0.1900	10	0.87932	D	0	.	19.8611	0.96785	0.0:0.0:1.0:0.0	.	217;217	B7ZKT9;Q2M389	.;WASH7_HUMAN	C	217	ENSP00000328062:W217C	ENSP00000328062:W217C	W	+	3	0	KIAA1033	104039098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.605000	0.98321	2.687000	0.91594	0.585000	0.79938	TGG		0.299	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		T	105514968	G	T	105514968	3	4	166	1	0	0	0	0	1	0	0	0	8206	1183	41	5	685	5	KIAA1033	12	105514968	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	35869927	105514968	28336927	51	11786											
WSCD2	9671	broad.mit.edu	37	chr12	108603905	108603905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcccccaggggttacCtgtatggcgggctggagttc	5	9	14	13	1	0	0	0	0	0	0	2	1	1	1	4	5	2	4	4	5	2	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:108603905C>A	ENST00000332082.4	+	5	1323	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	WSCD2_ENST00000261400.3_Missense_Mutation_p.L169M|WSCD2_ENST00000547525.1_Missense_Mutation_p.L169M|WSCD2_ENST00000549903.1_Missense_Mutation_p.L169M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	169	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGGGGTTACCTGTATGGCGG	0.647																																						uc001tms.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(505-507)Ctg>Atg		Homo sapiens WSC domain containing 2 (WSCD2), mRNA.							28	31	30					12																	108603905		2123	4235	6358	SO:0001583	missense	9671					integral to membrane		g.chr12:108603905C>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.505C>A	12.37:g.108603905C>A	ENSP00000331933:p.Leu169Met					WSCD2_uc001tmt.3_Missense_Mutation_p.L169M	p.L169M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			3	1249	+			169			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.505C>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801068	0.31869	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.22	3.4	0.38934	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.125962	0.53938	D	0.000055	T	0.35941	0.0949	N	0.25789	0.76	0.50467	D	0.999876	B	0.27791	0.189	B	0.31614	0.133	T	0.09596	-1.0667	10	0.33141	T	0.24	-18.2936	5.7063	0.17911	0.1556:0.6795:0.0:0.1649	.	169	Q2TBF2	WSCD2_HUMAN	M	169;169;16;169;169	ENSP00000448047:L169M;ENSP00000261400:L169M;ENSP00000446744:L16M;ENSP00000331933:L169M;ENSP00000447272:L169M	ENSP00000261400:L169M	L	+	1	2	WSCD2	107128035	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.107000	0.31110	0.598000	0.29829	0.555000	0.69702	CTG		0.647	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		A	108603905	C	A	108603905	3	1	166	1	0	0	0	0	1	0	0	0	17404	680	24	5	515	5	WSCD2	12	108603905	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	3088937	108603905	25247990	52	11787											
TMEM132D	121256	broad.mit.edu	37	chr12	129563144	129563144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggccctgttgcttcctgGgctgagctgcaaggagagtg	6	10	16	9	0	0	2	0	1	0	1	1	4	1	2	2	3	3	5	2	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:129563144G>A	ENST00000422113.2	-	8	2376	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.P222S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	684					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P684A(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGCTTCCTGGGCTGAGCTGC	0.577																																						uc009zyl.1																			1	Substitution - Missense(1)	p.P684A(2)	skin(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2050-2052)Cca>Tca		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							139	118	125					12																	129563144		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563144G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2050C>T	12.37:g.129563144G>A	ENSP00000408581:p.Pro684Ser					TMEM132D_uc001uia.2_Missense_Mutation_p.P222S	p.P684S	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2378	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	684					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2050C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198550	0.38806	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.22743	1.94;1.94	4.79	2.79	0.32731	.	0.066392	0.64402	D	0.000017	T	0.28134	0.0694	L	0.37507	1.11	0.50039	D	0.999843	B;D	0.57899	0.25;0.981	B;P	0.57324	0.082;0.818	T	0.01516	-1.1335	9	.	.	.	-16.009	12.8823	0.58024	0.0:0.0:0.7042:0.2958	.	684;222	Q14C87;Q14C87-2	T132D_HUMAN;.	S	222;684	ENSP00000374092:P222S;ENSP00000408581:P684S	.	P	-	1	0	TMEM132D	128129097	1.000000	0.71417	0.945000	0.38365	0.870000	0.49936	0.883000	0.28200	0.966000	0.38159	0.563000	0.77884	CCA		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129563144	G	A	129563144	3	1	166	1	0	0	0	0	1	0	0	0	16044	1232	43	3	1257	3	TMEM132D	12	129563144	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	20959239	129563144	4288751	53	11788											
ANKLE2	23141	broad.mit.edu	37	chr12	133306704	133306704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcttctatgaggtctgcctCctgctccaaggggaaggcgc	6	9	14	12	1	2	1	0	1	2	0	4	2	4	2	3	5	2	2	3	5	3	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:133306704C>G	ENST00000357997.5	-	11	2133	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E620Q|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_Missense_Mutation_p.E37Q|ANKLE2_ENST00000542282.1_Missense_Mutation_p.E37Q	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	682					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGTCTGCCTCCTGCTCCAAG	0.572																																						uc001ukx.2																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2044-2046)Gag>Cag		Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.							59	64	62					12																	133306704		1964	4141	6105	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306704C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2044G>C	12.37:g.133306704C>G	ENSP00000350686:p.Glu682Gln					ANKLE2_uc009zyw.1_Missense_Mutation_p.E37Q	p.E682Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	10	2111	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	682					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2044G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068924	0.36470	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.44482	1.93;1.92;0.92;0.92;0.92	5.76	-0.826	0.10805	.	0.901448	0.09973	N	0.732044	T	0.14917	0.0360	N	0.08118	0	0.20489	N	0.999891	B	0.32731	0.382	B	0.21708	0.036	T	0.17289	-1.0374	10	0.15952	T	0.53	-6.9432	2.9848	0.05964	0.1148:0.3653:0.1183:0.4016	.	682	Q86XL3	ANKL2_HUMAN	Q	620;682;37;37;37	ENSP00000446268:E620Q;ENSP00000350686:E682Q;ENSP00000437807:E37Q;ENSP00000438551:E37Q;ENSP00000445760:E37Q	ENSP00000350686:E682Q	E	-	1	0	ANKLE2	131816777	0.020000	0.18652	0.343000	0.25615	0.125000	0.20455	0.443000	0.21644	-0.293000	0.08986	-0.310000	0.09108	GAG		0.572	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			G	133306704	C	G	133306704	3	3	166	1	0	0	0	0	1	0	0	0	633	864	30	5	784	5	ANKLE2	12	133306704	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	3743560	133306704	545191	54	11789											
SLC39A2	29986	broad.mit.edu	37	chr14	21469493	21469493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggcagtgttctccataCtattattagctctcatgtcc	8	15	8	10	0	2	0	1	0	2	0	5	1	3	0	2	1	2	3	2	1	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr14:21469493C>T	ENST00000298681.4	+	4	842	c.685C>T	c.(685-687)Cta>Tta	p.L229L	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	229					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTTCTCCATACTATTATTAGC	0.567																																						uc001vyr.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(685-687)Cta>Tta		Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.							138	120	126					14																	21469493		2203	4300	6503	SO:0001819	synonymous_variant	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469493C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.685C>T	14.37:g.21469493C>T						SLC39A2_uc001vys.3_Silent_p.L130L	p.L229L	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	3	877	+	all_cancers(95;0.00267)		229					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Silent	SNP	ENST00000298681.4	37	c.685C>T	CCDS9563.1																																																																																				0.567	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		T	21469493	C	T	21469493	2	4	166	1	0	0	0	0	0	0	0	1	14618	564	20	3		3	SLC39A2	14	21469493	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08		21469493	85880047	55	11790											
C15orf2	23742	broad.mit.edu	37	chr15	24921103	24921103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccgctcccctgtcccGggacgcctccccgcccggtc	1	5	10	25	6	0	0	0	0	0	0	4	1	3	1	9	2	0	1	9	2	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:24921103G>A	ENST00000329468.2	+	1	563	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCCCTGTCCCGGGACGCCTCC	0.706																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(88-90)cGg>cAg		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							6	9	8					15																	24921103		1961	3888	5849	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921103G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.89G>A	15.37:g.24921103G>A	ENSP00000333735:p.Arg30Gln						p.R30Q	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	563	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	30						Missense_Mutation	SNP	ENST00000329468.2	37	c.89G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	15.07	2.724818	0.48833	.	.	ENSG00000185823	ENST00000329468	T	0.05996	3.36	2.09	-1.21	0.09524	.	1.971860	0.03089	N	0.159568	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	D	0.56035	0.974	B	0.34824	0.19	T	0.38178	-0.9673	10	0.27785	T	0.31	.	2.7514	0.05282	0.3385:0.2528:0.4087:0.0	.	30	Q9NZP6	CO002_HUMAN	Q	30	ENSP00000333735:R30Q	ENSP00000333735:R30Q	R	+	2	0	C15orf2	22472196	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.001000	0.13038	-0.299000	0.08909	0.484000	0.47621	CGG		0.706	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921103	G	A	24921103	3	1	166	1	0	0	0	0	1	0	0	0	1784	1116	39	2	91	2	C15orf2	15	24921103	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		24921103	77610289	56	11791											
CHRNB4	1143	broad.mit.edu	37	chr15	78917630	78917630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgtacttccagtcctcaaCgacctgcaggcagacagagg	11	6	10	14	2	1	2	1	0	0	2	3	3	3	2	3	2	3	3	3	2	2	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78917630C>T	ENST00000261751.3	-	6	1453	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	CHRNB4_ENST00000412074.2_Silent_p.S121S|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	448					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CAGTCCTCAACGACCTGCAGG	0.607																																						uc002bed.1																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(1342-1344)Gtt>Att		Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.							235	192	206					15																	78917630		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78917630C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1342G>A	15.37:g.78917630C>T	ENSP00000261751:p.Val448Ile					CHRNB4_uc002bee.1_Silent_p.S121S|AX748237_uc002bef.1_5'Flank	p.V448I	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	1454	-			448					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.1342G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831644	0.32329	.	.	ENSG00000117971	ENST00000261751	D	0.85484	-1.99	5.37	-4.34	0.03666	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.432703	0.23209	N	0.050697	T	0.51736	0.1692	N	0.00258	-1.755	0.18873	N	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.52873	-0.8517	10	0.23302	T	0.38	.	14.5514	0.68070	0.0:0.2122:0.0:0.7878	.	448	P30926	ACHB4_HUMAN	I	448	ENSP00000261751:V448I	ENSP00000261751:V448I	V	-	1	0	CHRNB4	76704685	0.039000	0.19947	0.000000	0.03702	0.861000	0.49209	0.585000	0.23879	-0.745000	0.04772	-0.137000	0.14449	GTT		0.607	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			T	78917630	C	T	78917630	3	4	166	1	0	0	0	0	1	0	0	0	3393	536	19	1	158	1	CHRNB4	15	78917630	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	53996527	78917630	23613762	57	11792											
CHRNB4	1143	broad.mit.edu	37	chr15	78922161	78922161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggtgcagttctgctggtcGaagggaaagtacttcacctc	9	10	13	9	1	2	0	1	0	1	0	4	2	2	1	1	3	3	4	1	3	3	3	rs80249872		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78922161G>A	ENST00000261751.3	-	5	597	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	162					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TCTGCTGGTCGAAGGGAAAGT	0.552																																						uc002bed.1																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(484-486)ttC>ttT		Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.							74	67	69					15																	78922161		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922161G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.486C>T	15.37:g.78922161G>A						CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	p.F162F	NM_000750	NP_000741	P30926	ACHB4_HUMAN			4	598	-			162					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.486C>T	CCDS10306.1																																																																																				0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			A	78922161	G	A	78922161	2	1	166	1	0	0	0	0	0	0	0	1	3393	1049	37	2		2	CHRNB4	15	78922161	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	4531	78922161	23609231	58	11793											
SEPT12	124404	broad.mit.edu	37	chr16	4833669	4833669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgcgcctgaaggcctctCgctcctccatggtcaggctg	4	9	11	17	2	2	1	1	1	1	0	5	1	4	1	5	3	1	2	5	3	1	0	rs140969211	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:4833669C>T	ENST00000268231.8	-	6	874	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.R158Q	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	204	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GAAGGCCTCTCGCTCCTCCAT	0.677													C|||	4	0.000798722	0.003	0	5008	,	,		16160	0		0	False		,,,				2504	0					uc002cxq.3																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(610-612)cGa>cAa		Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG	3,4391	6.2+/-15.9	0,3,2194	51	54	53		473,611	4.6	1	16	dbSNP_134	53	0,8600		0,0,4300	yes	missense,missense	SEPT12	NM_001154458.2,NM_144605.4	43,43	0,3,6494	TT,TC,CC		0.0,0.0683,0.0231	probably-damaging,probably-damaging	158/313,204/359	4833669	3,12991	2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833669C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.611G>A	16.37:g.4833669C>T	ENSP00000268231:p.Arg204Gln					SEPT12_uc002cxr.3_Missense_Mutation_p.R158Q|SEPT12_uc010bty.3_Non-coding_Transcript	p.R204Q	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			5	875	-			204					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.611G>A	CCDS10522.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.57	2.872592	0.51695	6.83E-4	0.0	ENSG00000140623	ENST00000396693;ENST00000268231	D;T	0.82711	-1.64;0.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	M	0.92268	3.29	0.42425	D	0.992651	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.94633	0.7823	10	0.72032	D	0.01	.	16.1963	0.82029	0.0:1.0:0.0:0.0	.	158;204	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	Q	158;204	ENSP00000379922:R158Q;ENSP00000268231:R204Q	ENSP00000268231:R204Q	R	-	2	0	SEPT12	4773670	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	3.806000	0.55583	2.416000	0.81992	0.313000	0.20887	CGA		0.677	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		T	4833669	C	T	4833669	3	4	166	1	0	0	0	0	1	0	0	0	14062	884	31	2	485	2	SEPT12	16	4833669	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		4833669	85521084	59	11794											
ITGAD	3681	broad.mit.edu	37	chr16	31435264	31435264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaagggcaatctcagtttCggctgggtccgcgaggtgtg	6	10	16	9	3	1	1	1	1	1	0	4	2	2	1	1	4	0	3	1	4	2	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:31435264C>T	ENST00000389202.2	+	27	3193	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1048					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTCAGTTTCGGCTGGGTCC	0.642																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(3145-3147)ttC>ttT		Homo sapiens integrin, alpha D (ITGAD), mRNA.							52	44	46					16																	31435264		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435264C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3144C>T	16.37:g.31435264C>T						ITGAD_uc002ebv.1_Silent_p.F1048F	p.F1049F	NM_005353	NP_005344	Q13349	ITAD_HUMAN			26	3196	+			1048					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.3147C>T	CCDS32438.1																																																																																				0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		T	31435264	C	T	31435264	2	4	166	1	0	0	0	0	0	0	0	1	7884	883	31	2		2	ITGAD	16	31435264	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	26601595	31435264	58919489	60	11795											
C16orf78	123970	broad.mit.edu	37	chr16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagactgctgaagataggcGcatgtctgacctcacctgtg	10	9	12	10	1	2	4	1	2	1	2	2	5	2	4	2	1	1	2	2	1	3	1	rs144505396		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		20790	0		0	False		,,,				2504	0					uc002efr.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(79-81)cGc>cAc		Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.		G	HIS/ARG	5,4393	9.9+/-24.2	0,5,2194	141	124	130		80	1.6	0.3	16	dbSNP_134	130	0,8600		0,0,4300	yes	missense	C16orf78	NM_144602.2	29	0,5,6494	AA,AG,GG		0.0,0.1137,0.0385	possibly-damaging	27/266	49407930	5,12993	2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407930G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.80G>A	16.37:g.49407930G>A	ENSP00000299191:p.Arg27His						p.R27H	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			0	123	+			27						Missense_Mutation	SNP	ENST00000299191.3	37	c.80G>A	CCDS10738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	C16orf78	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		A	49407930	G	A	49407930	3	1	166	1	0	0	0	0	1	0	0	0	1835	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	17972666	49407930	40946823	61	11796											
NF1	4763	broad.mit.edu	37	chr17	29588751	29588751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcataaagctgttggaagaCgaccttttgataagatggca	14	11	10	6	1	1	3	1	1	0	2	1	5	1	4	1	2	1	3	1	2	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:29588751C>T	ENST00000358273.4	+	35	4983	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1513*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1534					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R1534*(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTGGAAGACGACCTTTTGA	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	15	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(3)	p.0?(8)|p.R1534*(6)|p.?(4)	soft_tissue(9)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM941093	NF1	M		c.(4600-4602)Cga>Tga		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							127	111	117					17																	29588751		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29588751C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4600C>T	17.37:g.29588751C>T	ENSP00000351015:p.Arg1534*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.R1513*|NF1_uc002hgi.1_Nonsense_Mutation_p.R546*	p.R1534*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	4983	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1534					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.4600C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	39	7.727621	0.98456	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2503	0.60048	0.1585:0.8414:0.0:0.0	.	.	.	.	X	1534;1513;1179	.	ENSP00000348498:R1513X	R	+	1	2	NF1	26612877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.061000	0.41403	2.565000	0.86533	0.650000	0.86243	CGA		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29588751	C	T	29588751	4	4	166	1	0	0	0	0	0	1	0	0	10356	528	19	1	4799	1	NF1	17	29588751	Nonsense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		29588751	51606459	62	11797											
KRT25	147183	broad.mit.edu	37	chr17	38904633	38904633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaccactatggctttggCtgggtctgagcattaaaaat	11	13	9	8	0	1	1	0	1	1	0	1	1	1	1	1	3	2	3	1	3	5	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:38904633C>T	ENST00000312150.4	-	8	1309	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATGGCTTTGGCTGGGTCTGAG	0.348																																						uc002hve.3																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1249-1251)Gcc>Acc		Homo sapiens keratin 25 (KRT25), mRNA.							121	114	117					17																	38904633		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38904633C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1249G>A	17.37:g.38904633C>T	ENSP00000310573:p.Ala417Thr						p.A417T	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			7	1310	-		Breast(137;0.00526)	417			Tail.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1249G>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187720	0.21954	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.82081	-1.57	5.75	-6.75	0.01738	.	2.304750	0.01320	N	0.010917	T	0.61652	0.2364	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55528	-0.8127	10	0.12103	T	0.63	.	3.6459	0.08184	0.0959:0.1432:0.3789:0.3821	.	417	Q7Z3Z0	K1C25_HUMAN	T	346;417	ENSP00000310573:A417T	ENSP00000310573:A417T	A	-	1	0	KRT25	36158159	0.000000	0.05858	0.000000	0.03702	0.616000	0.37450	-1.974000	0.01499	-1.102000	0.03023	-0.176000	0.13171	GCC		0.348	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		T	38904633	C	T	38904633	3	4	166	1	0	0	0	0	1	0	0	0	8462	797	28	3	107	3	KRT25	17	38904633	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	9315882	38904633	42290577	63	11798											
RAD51C	5889	broad.mit.edu	37	chr17	56809897	56809897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaatgcacagtactgtttCaaatcaaagtcagtattatt	15	13	7	6	0	3	0	3	0	0	0	3	1	3	1	0	1	2	4	0	1	6	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:56809897C>G	ENST00000337432.4	+	8	1089	c.1018C>G	c.(1018-1020)Caa>Gaa	p.Q340E	RAD51C_ENST00000583539.1_Missense_Mutation_p.Q340E	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	340					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.Q340K(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTGTTTCAAATCAAAGT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.3																			1	Substitution - Missense(1)	p.Q340K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(1018-1020)Caa>Gaa	Homologous recombination	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.							156	144	148					17																	56809897		2203	4300	6503	SO:0001583	missense	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56809897C>G	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1018C>G	17.37:g.56809897C>G	ENSP00000336701:p.Gln340Glu					RAD51C_uc010woa.1_Missense_Mutation_p.Q340E|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	p.Q340E	NM_058216	NP_478123	O43502	RA51C_HUMAN			7	1060	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		340					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.1018C>G	CCDS11611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.378|1.378	-0.584194|-0.584194	0.03827|0.03827	.|.	.|.	ENSG00000108384|ENSG00000108384	ENST00000337432|ENST00000413590	T|.	0.39056|.	1.1|.	5.75|5.75	0.794|0.794	0.18638|0.18638	DNA recombination and repair protein Rad51, C-terminal (1);|.	1.213780|.	0.05299|.	N|.	0.522595|.	T|.	0.57154|.	0.2034|.	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.14023|.	0.01;0.005|.	T|.	0.54057|.	-0.8350|.	10|.	0.29301|.	T|.	0.29|.	-0.8649|-0.8649	16.3106|16.3106	0.82869|0.82869	0.0:0.4343:0.5657:0.0|0.0:0.4343:0.5657:0.0	.|.	331;340|.	B4E0G0;O43502|.	.;RA51C_HUMAN|.	E|X	340|220	ENSP00000336701:Q340E|.	ENSP00000336701:Q340E|.	Q|S	+|+	1|2	0|0	RAD51C|RAD51C	54164896|54164896	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.953000|0.953000	0.61014|0.61014	0.187000|0.187000	0.16998|0.16998	0.302000|0.302000	0.22762|0.22762	0.585000|0.585000	0.79938|0.79938	CAA|TCA		0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		G	56809897	C	G	56809897	3	3	166	1	0	0	0	0	1	0	0	0	12988	827	29	5	1052	5	RAD51C	17	56809897	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	17905264	56809897	24385313	64	11799											
BAHCC1	57597	broad.mit.edu	37	chr17	79412126	79412126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcagcacccgggccagctCcctgtgtactcgaggccgca	7	6	12	16	3	0	0	0	0	0	0	2	1	1	0	4	2	4	5	4	2	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:79412126C>T	ENST00000307745.7	+	13	2757	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L																								CGGGCCAGCTCCCTGTGTACT	0.697																																						uc002kaf.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26						c.(2569-2571)ctC>ctT		Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.							7	9	9					17																	79412126		2026	4160	6186	SO:0001819	synonymous_variant	57597						DNA binding	g.chr17:79412126C>T																												ENST00000307745.7:c.2757C>T	17.37:g.79412126C>T						BAHCC1_uc002kae.2_Silent_p.L118L	p.L857L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		7	2571	+	all_neural(118;0.0804)|Melanoma(429;0.242)		919			Pro-rich.			Silent	SNP	ENST00000307745.7	37	c.2571C>T																																																																																					0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79412126	C	T	79412126	2	4	166	1	0	0	0	0	0	0	0	1	1296	842	30	3		3	BAHCC1	17	79412126	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	22602229	79412126	1783084	65	11800											
LAMA1	284217	broad.mit.edu	37	chr18	7011448	7011448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttactctgagaaaccacacGcagaagaggctgatcggagc	13	6	12	10	2	1	4	0	2	1	3	2	6	1	5	1	2	3	3	1	2	3	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:7011448G>A	ENST00000389658.3	-	25	3631	c.3538C>T	c.(3538-3540)Cgt>Tgt	p.R1180C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1180	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAAACCACACGCAGAAGAGGC	0.552																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3538-3540)Cgt>Tgt		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						28	29	28					18																	7011448		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011448G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3538C>T	18.37:g.7011448G>A	ENSP00000374309:p.Arg1180Cys					LAMA1_uc010wzj.2_Missense_Mutation_p.R656C	p.R1180C	NM_005559	NP_005550	P25391	LAMA1_HUMAN			24	3632	-		Colorectal(10;0.172)	1180			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3538C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127936	0.77549	.	.	ENSG00000101680	ENST00000389658	T	0.18657	2.2	5.87	4.98	0.66077	Laminin B type IV (1);	0.503034	0.19034	N	0.124469	T	0.31734	0.0806	L	0.57536	1.79	0.33589	D	0.600841	D	0.71674	0.998	P	0.53689	0.732	T	0.46386	-0.9195	10	0.38643	T	0.18	.	10.5178	0.44900	0.0686:0.0:0.7967:0.1347	.	1180	P25391	LAMA1_HUMAN	C	1180	ENSP00000374309:R1180C	ENSP00000374309:R1180C	R	-	1	0	LAMA1	7001448	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.218000	0.58554	1.432000	0.47375	0.643000	0.83706	CGT		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7011448	G	A	7011448	3	1	166	1	0	0	0	0	1	0	0	0	8605	1087	38	1	5845	1	LAMA1	18	7011448	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		7011448	71065800	66	11801											
MIB1	57534	broad.mit.edu	37	chr18	19358097	19358097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaggatgccaagggaGgttctttctacagagatcac	10	10	12	9	0	3	1	1	0	2	1	4	4	4	3	2	3	2	1	2	3	2	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:19358097G>A	ENST00000261537.6	+	5	934	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	AC091038.1_ENST00000582102.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	224					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCCAAGGGAGGTTCTTTCTA	0.403																																						uc002ktq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(670-672)Ggt>Agt		Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.							162	147	152					18																	19358097		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19358097G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.670G>A	18.37:g.19358097G>A	ENSP00000261537:p.Gly224Ser					MIB1_uc002ktp.3_5'UTR	p.G224S	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		4	670	+			224					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.670G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530533	0.85706	.	.	ENSG00000101752	ENST00000261537	T	0.37584	1.19	5.56	4.67	0.58626	.	0.050079	0.85682	D	0.000000	T	0.32315	0.0825	L	0.42529	1.33	0.80722	D	1	P	0.51791	0.948	B	0.41332	0.354	T	0.05068	-1.0908	10	0.27785	T	0.31	-22.1333	16.2148	0.82198	0.0:0.1332:0.8668:0.0	.	224	Q86YT6	MIB1_HUMAN	S	224	ENSP00000261537:G224S	ENSP00000261537:G224S	G	+	1	0	MIB1	17612095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	1.301000	0.44836	0.655000	0.94253	GGT		0.403	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		A	19358097	G	A	19358097	3	1	166	1	0	0	0	0	1	0	0	0	9566	1000	35	3	688	3	MIB1	18	19358097	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	12346649	19358097	58719151	67	11802											
DSG3	1830	broad.mit.edu	37	chr18	29039054	29039054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaaaccacttatactaaCggttaaaattttggatatta	17	13	6	5	1	0	1	0	0	0	1	0	3	0	2	1	2	3	1	1	2	8	8	rs62095186		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:29039054C>T	ENST00000257189.4	+	5	514	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATACTAACGGTTAAAATT	0.358																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(430-432)aCg>aTg		Homo sapiens desmoglein 3 (DSG3), mRNA.							78	79	78					18																	29039054		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29039054C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.431C>T	18.37:g.29039054C>T	ENSP00000257189:p.Thr144Met						p.T144M	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	540	+			144			Cadherin 1.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.431C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780045	0.31502	.	.	ENSG00000134757	ENST00000257189	T	0.56103	0.48	5.3	3.39	0.38822	Cadherin (4);Cadherin-like (1);	0.440720	0.19178	N	0.120780	T	0.62938	0.2469	L	0.53249	1.67	0.21627	N	0.999616	D	0.89917	1.0	D	0.75020	0.985	T	0.50608	-0.8808	10	0.34782	T	0.22	.	9.586	0.39517	0.0:0.6157:0.3031:0.0812	rs62095186	144	P32926	DSG3_HUMAN	M	144	ENSP00000257189:T144M	ENSP00000257189:T144M	T	+	2	0	DSG3	27293052	0.018000	0.18449	0.645000	0.29479	0.114000	0.19823	1.100000	0.31025	1.363000	0.46019	0.591000	0.81541	ACG		0.358	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29039054	C	T	29039054	3	4	166	1	0	0	0	0	1	0	0	0	4778	536	19	1	449	1	DSG3	18	29039054	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	9680957	29039054	49038194	68	11803											
COL6A1	1291	broad.mit.edu	37	chr21	47423347	47423347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcaccatcctgctggacgGctccgccagcgtgggcagcc	6	6	12	17	3	1	0	1	0	0	0	3	1	3	1	5	3	3	3	5	3	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr21:47423347G>A	ENST00000361866.3	+	35	2621	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	836	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.			DGSAS -> EPPPD (in Ref. 1; CAA33889). {ECO:0000305}.	axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTGCTGGACGGCTCCGCCAGC	0.692																																						uc002zhu.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2506-2508)gGc>gAc		Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	Palifermin(DB00039)						18	21	20					21																	47423347		2172	4225	6397	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423347G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2507G>A	21.37:g.47423347G>A	ENSP00000355180:p.Gly836Asp					COL6A1_uc002zhv.1_Missense_Mutation_p.G167D	p.G836D	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	34	2609	+	all_hematologic(128;0.24)		836	DGSAS -> EPPPD (in Ref. 1; CAA33889).		C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2507G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883978	0.91814	.	.	ENSG00000142156	ENST00000361866	D	0.85088	-1.94	4.84	4.84	0.62591	von Willebrand factor, type A (3);	0.166096	0.51477	D	0.000087	D	0.82811	0.5118	L	0.50333	1.59	0.35246	D	0.778274	B	0.31752	0.338	B	0.33121	0.158	D	0.85468	0.1171	10	0.35671	T	0.21	-13.0292	17.9519	0.89056	0.0:0.0:1.0:0.0	.	836	P12109	CO6A1_HUMAN	D	836	ENSP00000355180:G836D	ENSP00000355180:G836D	G	+	2	0	COL6A1	46247775	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	8.836000	0.92105	2.234000	0.73211	0.530000	0.56133	GGC		0.692	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		A	47423347	G	A	47423347	3	1	166	1	0	0	0	0	1	0	0	0	3699	1203	42	3	2645	3	COL6A1	21	47423347	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		47423347	706548	69	11804											
SLC5A4	6527	broad.mit.edu	37	chr22	32628993	32628993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcacgtgagacatgtccTtgccacacaggcagcgctgc	8	8	10	15	2	1	1	1	1	0	1	2	2	2	1	3	1	3	2	3	1	0	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:32628993T>G	ENST00000266086.4	-	9	925	c.914A>C	c.(913-915)aAg>aCg	p.K305T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	305					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGACATGTCCTTGCCACACAG	0.557																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(913-915)aAg>aCg		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.							117	79	92					22																	32628993		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32628993T>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.914A>C	22.37:g.32628993T>G	ENSP00000266086:p.Lys305Thr						p.K305T	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			8	916	-			305					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.914A>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	17.77	3.470811	0.63625	.	.	ENSG00000100191	ENST00000266086	D	0.90444	-2.67	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.94021	3.485	0.80722	D	1	D	0.61697	0.99	D	0.85130	0.997	D	0.96705	0.9521	10	0.66056	D	0.02	.	12.3969	0.55391	0.0:0.0:0.0:1.0	.	305	Q9NY91	SC5A4_HUMAN	T	305	ENSP00000266086:K305T	ENSP00000266086:K305T	K	-	2	0	SLC5A4	30958993	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	4.930000	0.63462	2.098000	0.63641	0.460000	0.39030	AAG		0.557	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		G	32628993	T	G	32628993	3	3	166	1	0	0	0	0	1	0	0	0	14667	1609	56	5	1093	5	SLC5A4	22	32628993	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08		32628993	18675573	70	11805											
FAM47A	158724	broad.mit.edu	37	chrX	34150044	34150044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcttccacttgctctaCgaacgccttccgtgctagct	5	12	9	15	3	1	0	0	0	1	0	3	1	3	0	3	1	5	4	3	1	3	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:34150044C>T	ENST00000346193.3	-	1	403	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	118								p.V118I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGCTCTACGAACGCCTTC	0.547																																						uc004ddg.3																			1	Substitution - Missense(1)	p.V118I(2)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(352-354)Gta>Ata		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							87	83	85					X																	34150044		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150044C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.352G>A	X.37:g.34150044C>T	ENSP00000345029:p.Val118Ile						p.V118I	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			0	404	-			118					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.352G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467786	0.26335	.	.	ENSG00000185448	ENST00000346193	T	0.18502	2.21	1.1	-0.947	0.10382	.	.	.	.	.	T	0.10723	0.0262	L	0.43701	1.375	0.09310	N	1	P	0.36222	0.544	B	0.28385	0.089	T	0.16660	-1.0395	9	0.51188	T	0.08	.	4.0132	0.09632	0.0:0.4843:0.0:0.5157	.	118	Q5JRC9	FA47A_HUMAN	I	118	ENSP00000345029:V118I	ENSP00000345029:V118I	V	-	1	0	FAM47A	34059965	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	-1.188000	0.03064	-0.485000	0.06754	-0.411000	0.06167	GTA		0.547	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34150044	C	T	34150044	3	4	166	1	0	0	0	0	1	0	0	0	5569	536	19	1	2027	1	FAM47A	23	34150044	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		34150044	121120516	71	11806											
ZNF711	7552	broad.mit.edu	37	chrX	84526085	84526085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgtgttgagtgtgggaagGgttttcgacatccttctgaa	7	16	13	5	1	1	2	0	2	1	0	3	4	2	3	1	2	0	2	1	2	2	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:84526085G>A	ENST00000373165.3	+	9	1843	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	ZNF711_ENST00000276123.3_Missense_Mutation_p.G513S|ZNF711_ENST00000542798.1_Missense_Mutation_p.G355S|ZNF711_ENST00000395402.1_Missense_Mutation_p.G521S|ZNF711_ENST00000360700.4_Missense_Mutation_p.G559S	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	513					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413																																						uc004eeq.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1675-1677)Ggt>Agt		Homo sapiens zinc finger protein 711 (ZNF711), mRNA.							87	70	76					X																	84526085		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526085G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1537G>A	X.37:g.84526085G>A	ENSP00000362260:p.Gly513Ser					ZNF711_uc004eep.3_Missense_Mutation_p.G513S|ZNF711_uc004eeo.3_Missense_Mutation_p.G513S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S	p.G559S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	2561	+			513					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1675G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816636	0.70912	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000507	T	0.21761	0.0524	N	0.03253	-0.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.47459	-0.9116	10	0.44086	T	0.13	-9.6284	17.9439	0.89034	0.0:0.0:1.0:0.0	.	559;513	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	S	521;513;513;559;355	ENSP00000378798:G521S;ENSP00000362260:G513S;ENSP00000276123:G513S;ENSP00000353922:G559S;ENSP00000442071:G355S	ENSP00000276123:G513S	G	+	1	0	ZNF711	84412741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.171000	0.68590	0.513000	0.50165	GGT		0.413	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		A	84526085	G	A	84526085	3	1	166	1	0	0	0	0	1	0	0	0	18113	1232	43	3	1563	3	ZNF711	23	84526085	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	50376041	84526085	70744475	72	11807											
GABRD	2563	broad.mit.edu	37	chr1	1961508	1961508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcccgccggcagcgccgCgtcccggggaacctgatggg	5	5	15	16	6	1	1	0	1	1	0	3	2	2	2	5	4	2	1	5	4	1	0	rs374718450		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:1961508C>T	ENST00000378585.4	+	9	1229	c.1146C>T	c.(1144-1146)cgC>cgT	p.R382R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	382					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCAGCGCCGCGTCCCGGGGA	0.692																																						uc001aip.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1144-1146)cgC>cgT		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.		C		1,4397		0,1,2198	24	28	26		1146	-5.2	0	1		26	0,8586		0,0,4293	no	coding-synonymous	GABRD	NM_000815.4		0,1,6491	TT,TC,CC		0.0,0.0227,0.0077		382/453	1961508	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961508C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1146C>T	1.37:g.1961508C>T							p.R382R	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	1241	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	382					Q8N4N9	Silent	SNP	ENST00000378585.4	37	c.1146C>T	CCDS36.1																																																																																				0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		T	1961508	C	T	1961508	2	4	167	1	0	0	0	0	0	0	0	1	6169	755	27	1		1	GABRD	1	1961508	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		1961508	247289113	1	11808											
DNAJC11	55735	broad.mit.edu	37	chr1	6704720	6704720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgtactccaccaccgtcCcaaagaagcctgctctgcag	9	7	7	18	2	1	1	0	0	1	1	4	1	4	1	6	0	4	3	6	0	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:6704720C>T	ENST00000377577.5	-	10	1118	c.995G>A	c.(994-996)gGg>gAg	p.G332E	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Missense_Mutation_p.G242E|DNAJC11_ENST00000542246.1_Missense_Mutation_p.G294E|DNAJC11_ENST00000294401.7_Missense_Mutation_p.G332E|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	332						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCACCGTCCCAAAGAAGCC	0.562																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(994-996)gGg>gAg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							73	71	72					1																	6704720		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6704720C>T	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.995G>A	1.37:g.6704720C>T	ENSP00000366800:p.Gly332Glu					DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	p.G332E	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	9	1101	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	332					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.995G>A	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028502	0.75390	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.30182	2.17;2.25;1.92;1.54	5.58	5.58	0.84498	.	0.103856	0.64402	D	0.000003	T	0.59622	0.2207	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.988;0.99;0.999	P;D;D	0.71184	0.839;0.972;0.952	T	0.63550	-0.6612	10	0.72032	D	0.01	.	18.5658	0.91116	0.0:1.0:0.0:0.0	.	242;332;332	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	E	332;332;294;242	ENSP00000366800:G332E;ENSP00000294401:G332E;ENSP00000444020:G294E;ENSP00000366796:G242E	ENSP00000294401:G332E	G	-	2	0	DNAJC11	6627307	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.249000	0.78278	2.624000	0.88883	0.585000	0.79938	GGG		0.562	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		T	6704720	C	T	6704720	3	4	167	1	0	0	0	0	1	0	0	0	4630	623	22	3	712	3	DNAJC11	1	6704720	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	4743212	6704720	242545901	2	11809											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998781	7998781	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatctttgaactcatacCtttacactgcctgcatatgt	12	15	4	10	0	2	1	1	1	1	0	2	1	2	1	2	0	5	1	2	0	6	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																						uc001aot.3																			1	Substitution - Missense(1)	p.G70C(1)	kidney(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e4+1		Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.							176	178	177					1																	7998781		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7998781C>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>T	1.37:g.7998781C>A							p.G70_splice	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	4	469	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	70						Missense_Mutation	SNP	ENST00000377507.3	37	c.208_splice	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596826	0.46318	.	.	ENSG00000049249	ENST00000377507	D	0.98178	-4.77	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	L	0.47190	1.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.97864	1.0282	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	C	70	ENSP00000366729:G70C	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Missense_Mutation	A	7998781	C	A	7998781	5	1	167	1	0	0	0	0	0	0	1	0	16297	695	24	5	583	5	TNFRSF9	1	7998781	Splice_Site	SNP	C	TCGA-19-5954-01A-11D-1696-08	1294061	7998781	241251840	3	11810											
FBLIM1	54751	broad.mit.edu	37	chr1	16095074	16095074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcccctcaggcccatggagGaagagctgccacctcccccg	7	5	11	18	1	1	1	1	0	0	1	3	3	3	3	7	3	2	1	7	3	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:16095074G>A	ENST00000375766.3	+	5	1130	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E164K|FBLIM1_ENST00000375771.1_Missense_Mutation_p.E164K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	164	Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCCATGGAGGAAGAGCTGCC	0.652																																						uc001axd.1																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(490-492)Gaa>Aaa		Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.							36	38	37					1																	16095074		2203	4300	6503	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16095074G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.490G>A	1.37:g.16095074G>A	ENSP00000364921:p.Glu164Lys					FBLIM1_uc001axe.1_Missense_Mutation_p.E164K|FBLIM1_uc001axg.1_Missense_Mutation_p.E164K|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	p.E164K	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	5	933	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	164			Pro-rich.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.490G>A	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429562	0.43122	.	.	ENSG00000162458	ENST00000375771;ENST00000375766;ENST00000441801	T;T;T	0.58506	0.38;0.38;0.33	3.44	3.44	0.39384	.	1.200970	0.05933	N	0.635572	T	0.69620	0.3131	M	0.65975	2.015	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.57911	0.829;0.584	T	0.62358	-0.6871	10	0.28530	T	0.3	.	10.6936	0.45886	0.0:0.0:1.0:0.0	.	164;164	Q8WUP2-2;Q8WUP2	.;FBLI1_HUMAN	K	164	ENSP00000364926:E164K;ENSP00000364921:E164K;ENSP00000416387:E164K	ENSP00000364921:E164K	E	+	1	0	FBLIM1	15967661	0.990000	0.36364	0.915000	0.36163	0.039000	0.13416	3.960000	0.56752	2.231000	0.72958	0.313000	0.20887	GAA		0.652	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		A	16095074	G	A	16095074	3	1	167	1	0	0	0	0	1	0	0	0	5697	1175	41	3	500	3	FBLIM1	1	16095074	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	8096293	16095074	233155547	4	11811											
C1orf38	9473	broad.mit.edu	37	chr1	28208484	28208484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcccctctccacagtgCgcaggaccattgtcaagatc	9	8	9	15	1	2	1	1	0	1	1	4	2	2	2	4	1	3	2	4	1	1	1	rs375363209		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:28208484C>T	ENST00000373921.3	+	4	653	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.R217C	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	217	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCCACAGTGCGCAGGACCAT	0.652																																						uc001bpc.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(649-651)Cgc>Tgc		Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.		C	,CYS/ARG,	0,4232		0,0,2116	45	46	46		,649,	5.3	1	1		46	1,8481		0,1,4240	no	intron,missense,intron	C1orf38	NM_001039477.1,NM_001105556.1,NM_004848.2	,180,	0,1,6356	TT,TC,CC		0.0118,0.0,0.0079	,probably-damaging,	,217/644,	28208484	1,12713	2116	4241	6357	SO:0001583	missense	9473				cell adhesion|inflammatory response			g.chr1:28208484C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.649C>T	1.37:g.28208484C>T	ENSP00000363031:p.Arg217Cys					C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Missense_Mutation_p.R217C	p.R217C	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	3	677	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	217			CABIT 1.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.649C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636271	0.67130	0.0	1.18E-4	ENSG00000130775	ENST00000328928;ENST00000442118;ENST00000373921	T;T;T	0.52295	2.5;0.67;2.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.79475	2.455	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71682	-0.4519	10	0.87932	D	0	-25.1368	12.9616	0.58462	0.1619:0.8381:0.0:0.0	.	217;217	Q5TEJ8-5;Q5TEJ8	.;THMS2_HUMAN	C	217;80;217	ENSP00000329862:R217C;ENSP00000413725:R80C;ENSP00000363031:R217C	ENSP00000329862:R217C	R	+	1	0	C1orf38	28081071	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.051000	0.57412	2.654000	0.90174	0.561000	0.74099	CGC		0.652	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		T	28208484	C	T	28208484	3	4	167	1	0	0	0	0	1	0	0	0	2039	768	27	1	663	1	C1orf38	1	28208484	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	12113410	28208484	221042137	5	11812											
FLG	2312	broad.mit.edu	37	chr1	152276552	152276552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaccagaggaattctCtgcatgatgagtgcctgatt	9	12	10	10	0	1	4	0	3	1	1	3	5	2	5	3	1	2	1	3	1	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152276552C>T	ENST00000368799.1	-	3	10845	c.10810G>A	c.(10810-10812)Gag>Aag	p.E3604K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3604	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10810-10812)Gag>Aag		Homo sapiens filaggrin (FLG), mRNA.							207	211	210					1																	152276552		2202	4298	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276552C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10810G>A	1.37:g.152276552C>T	ENSP00000357789:p.Glu3604Lys						p.E3604K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10846	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3604			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10810G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	6.184	0.402038	0.11696	.	.	ENSG00000143631	ENST00000368799	T	0.03860	3.78	2.52	-4.75	0.03239	.	.	.	.	.	T	0.02083	0.0065	M	0.67953	2.075	0.09310	N	1	P	0.46220	0.874	B	0.42555	0.391	T	0.15321	-1.0441	9	0.09590	T	0.72	.	15.4071	0.74887	0.0:0.199:0.801:0.0	.	3604	P20930	FILA_HUMAN	K	3604	ENSP00000357789:E3604K	ENSP00000357789:E3604K	E	-	1	0	FLG	150543176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.937000	0.00685	-1.107000	0.03004	-0.301000	0.09380	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152276552	C	T	152276552	3	4	167	1	0	0	0	0	1	0	0	0	5922	922	32	3	1379	3	FLG	1	152276552	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	124068068	152276552	96974069	6	11813											
FLG	2312	broad.mit.edu	37	chr1	152280440	152280440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaccagaggaattctCtgcatgatgagtgcctgatt	9	12	10	10	0	1	4	0	3	1	1	3	5	2	5	3	1	2	1	3	1	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152280440C>T	ENST00000368799.1	-	3	6957	c.6922G>A	c.(6922-6924)Gag>Aag	p.E2308K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2308	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6922-6924)Gag>Aag		Homo sapiens filaggrin (FLG), mRNA.							240	266	257					1																	152280440		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280440C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6922G>A	1.37:g.152280440C>T	ENSP00000357789:p.Glu2308Lys						p.E2308K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6958	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2308			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6922G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.674	0.687686	0.14973	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03860	3.78	2.81	-2.55	0.06288	.	.	.	.	.	T	0.02119	0.0066	M	0.62723	1.935	0.09310	N	1	B	0.32409	0.37	B	0.30105	0.111	T	0.24693	-1.0153	9	0.38643	T	0.18	.	12.9083	0.58164	0.0:0.2495:0.7505:0.0	.	2308	P20930	FILA_HUMAN	K	2308;218	ENSP00000357789:E2308K	ENSP00000271820:E218K	E	-	1	0	FLG	150547064	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.612000	0.05616	-0.491000	0.06697	0.194000	0.17425	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280440	C	T	152280440	3	4	167	1	0	0	0	0	1	0	0	0	5922	922	32	3	5267	3	FLG	1	152280440	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	3888	152280440	96970181	7	11814											
SEC16B	89866	broad.mit.edu	37	chr1	177936906	177936906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcctggatgcataatGgggctgctgctgatggtctg	5	11	15	10	0	1	1	0	1	1	0	1	2	1	2	2	5	3	4	2	5	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:177936906G>T	ENST00000308284.6	-	2	300	c.211C>A	c.(211-213)Cat>Aat	p.H71N	SEC16B_ENST00000464631.2_Missense_Mutation_p.H71N|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	71	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GATGCATAATGGGGCTGCTGC	0.542																																						uc001glj.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(211-213)Cat>Aat		Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.							72	76	75					1																	177936906		2073	4221	6294	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177936906G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.211C>A	1.37:g.177936906G>T	ENSP00000308339:p.His71Asn					SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.H71N|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.H71N	p.H71N	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			6	1077	-			71			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.211C>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980112	0.18812	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.43294	2.51;0.95	5.58	2.41	0.29592	.	0.949029	0.08856	N	0.883704	T	0.26448	0.0646	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19331	0.035;0.014;0.011	B;B;B	0.17722	0.019;0.019;0.014	T	0.21552	-1.0242	10	0.23302	T	0.38	-0.6111	2.9016	0.05707	0.0881:0.2214:0.4326:0.2578	.	71;71;71	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	71	ENSP00000308339:H71N;ENSP00000431727:H71N	ENSP00000308339:H71N	H	-	1	0	AL359075.1	176203529	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.048000	0.11944	1.357000	0.45904	-0.252000	0.11476	CAT		0.542	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		T	177936906	G	T	177936906	3	4	167	1	0	0	0	0	1	0	0	0	13987	1348	47	5	3071	5	SEC16B	1	177936906	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	25656466	177936906	71313715	8	11815											
LAMB3	3914	broad.mit.edu	37	chr1	209791966	209791966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagggccagcacggcctCgctgacctcctggatagtgg	7	6	13	15	2	0	1	0	1	0	0	2	2	1	2	5	4	1	2	5	4	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:209791966C>T	ENST00000356082.4	-	19	2874	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	LAMB3_ENST00000391911.1_Missense_Mutation_p.E914K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E914K	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	914	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACGGCCTCGCTGACCTCC	0.582																																						uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2740-2742)Gag>Aag		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.							70	67	68					1																	209791966		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791966C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2740G>A	1.37:g.209791966C>T	ENSP00000348384:p.Glu914Lys					LAMB3_uc009xco.3_Missense_Mutation_p.E914K|LAMB3_uc001hhh.3_Missense_Mutation_p.E914K	p.E914K	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	17	3130	-			914			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2740G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034756	0.54896	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.22743	1.94;1.94;1.94	5.12	3.24	0.37175	.	0.235283	0.42548	D	0.000695	T	0.23572	0.0570	M	0.73598	2.24	0.40877	D	0.983964	B	0.25809	0.135	B	0.15484	0.013	T	0.10660	-1.0620	10	0.59425	D	0.04	.	10.4553	0.44546	0.0:0.8407:0.0:0.1593	.	914	Q13751	LAMB3_HUMAN	K	914	ENSP00000375778:E914K;ENSP00000348384:E914K;ENSP00000355997:E914K	ENSP00000348384:E914K	E	-	1	0	LAMB3	207858589	0.885000	0.30320	1.000000	0.80357	0.822000	0.46500	1.695000	0.37763	1.172000	0.42781	0.555000	0.69702	GAG		0.582	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		T	209791966	C	T	209791966	3	4	167	1	0	0	0	0	1	0	0	0	8612	893	31	2	798	2	LAMB3	1	209791966	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	31855060	209791966	39458655	9	11816											
CENPF	1063	broad.mit.edu	37	chr1	214819178	214819178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattatgaaaagctgaatGtctccaaggccttggaggcc	12	9	11	9	0	1	3	0	2	1	1	2	4	1	4	3	3	1	1	3	3	5	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:214819178G>A	ENST00000366955.3	+	13	6433	c.6265G>A	c.(6265-6267)Gtc>Atc	p.V2089I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2185					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGCTGAATGTCTCCAAGGC	0.473																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(6265-6267)Gtc>Atc		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							51	56	54					1																	214819178		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819178G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6265G>A	1.37:g.214819178G>A	ENSP00000355922:p.Val2089Ile						p.V2089I	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	6439	+			2185					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6265G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.172648	0.01646	.	.	ENSG00000117724	ENST00000366955	T	0.02552	4.25	5.45	-1.66	0.08265	.	1.341490	0.05472	N	0.553286	T	0.01489	0.0048	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48525	-0.9028	10	0.13108	T	0.6	.	4.972	0.14121	0.5795:0.1766:0.1598:0.0841	.	2185	P49454	CENPF_HUMAN	I	2089	ENSP00000355922:V2089I	ENSP00000355922:V2089I	V	+	1	0	CENPF	212885801	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.977000	0.03782	-0.668000	0.05296	-0.183000	0.12914	GTC		0.473	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214819178	G	A	214819178	3	1	167	1	0	0	0	0	1	0	0	0	3231	1377	48	3	6311	3	CENPF	1	214819178	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	5027212	214819178	34431443	10	11817											
ADCY3	109	broad.mit.edu	37	chr2	25141642	25141642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtctcgtggcgctgcCttttgaagtaggtctggtag	5	12	16	8	2	2	1	0	1	2	0	3	1	2	1	1	4	1	4	1	4	3	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:25141642C>T	ENST00000260600.5	-	1	1066	c.215G>A	c.(214-216)aGg>aAg	p.R72K		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	72					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGGCGCTGCCTTTTGAAGTA	0.597																																						uc010ykm.2																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(214-216)aGg>aAg		Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.							69	74	72					2																	25141642		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141642C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.215G>A	2.37:g.25141642C>T	ENSP00000260600:p.Arg72Lys					ADCY3_uc002rfs.4_Missense_Mutation_p.R72K	p.R72K	NM_004036	NP_004027	O60266	ADCY3_HUMAN			0	414	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		72					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.215G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469595	0.84533	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80653	-1.4;-0.99;0.38	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.54323	1.7	0.80722	D	1	P;P	0.36412	0.552;0.552	B;B	0.27380	0.079;0.079	T	0.71344	-0.4621	10	0.10902	T	0.67	.	16.446	0.83932	0.0:1.0:0.0:0.0	.	72;72	B7ZLX9;O60266	.;ADCY3_HUMAN	K	72;47;72;72	ENSP00000260600:R72K;ENSP00000389799:R72K;ENSP00000406153:R72K	ENSP00000260600:R72K	R	-	2	0	ADCY3	24995146	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.380000	0.79704	2.211000	0.71520	0.563000	0.77884	AGG		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			T	25141642	C	T	25141642	3	4	167	1	0	0	0	0	1	0	0	0	295	681	24	3	3303	3	ADCY3	2	25141642	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		25141642	218057731	11	11818											
UXS1	80146	broad.mit.edu	37	chr2	106710571	106710571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtactcgagttctttacGgaagtagtgaattgctttgt	8	16	11	6	2	1	1	0	1	1	0	2	3	1	2	0	2	3	4	0	2	5	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:106710571G>A	ENST00000409501.3	-	15	1231	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	UXS1_ENST00000409032.1_Missense_Mutation_p.R224C|UXS1_ENST00000540130.1_Missense_Mutation_p.R335C|UXS1_ENST00000283148.7_Missense_Mutation_p.R397C			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	392					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTTCTTTACGGAAGTAGTGA	0.468																																						uc002tdm.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1174-1176)Cgt>Tgt		Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.							241	226	231					2																	106710571		1947	4140	6087	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710571G>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1174C>T	2.37:g.106710571G>A	ENSP00000387019:p.Arg392Cys					UXS1_uc002tdk.3_Missense_Mutation_p.R190C|UXS1_uc002tdl.3_Missense_Mutation_p.R224C|UXS1_uc002tdn.3_Missense_Mutation_p.R397C|UXS1_uc002tdo.3_Missense_Mutation_p.R335C	p.R392C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			14	1272	-			392					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1174C>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701554	0.68501	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.68	5.68	0.88126	.	0.047902	0.85682	D	0.000000	T	0.61739	0.2371	M	0.87827	2.91	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	P;B;P	0.48654	0.585;0.381;0.504	T	0.70753	-0.4786	10	0.87932	D	0	-4.895	14.5947	0.68397	0.0:0.0:0.854:0.146	.	397;392;397	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	C	397;335;392;224	ENSP00000283148:R397C;ENSP00000438265:R335C;ENSP00000387019:R392C;ENSP00000387096:R224C	ENSP00000283148:R397C	R	-	1	0	UXS1	106077003	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.563000	0.67352	2.670000	0.90874	0.563000	0.77884	CGT		0.468	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		A	106710571	G	A	106710571	3	1	167	1	0	0	0	0	1	0	0	0	17106	1116	39	2	92	2	UXS1	2	106710571	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	81568929	106710571	136488802	12	11819											
TUBA3D	113457	broad.mit.edu	37	chr2	132238151	132238151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgagatcaccaatgcctgCttcgagccagccaatcaaat	12	7	8	14	2	2	1	2	0	0	1	3	3	2	1	5	0	4	1	5	0	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:132238151C>T	ENST00000321253.6	+	4	992	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	295					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAATGCCTGCTTCGAGCCAG	0.597																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(883-885)tgC>tgT		Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.							93	127	115					2																	132238151		2202	4300	6502	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238151C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.885C>T	2.37:g.132238151C>T							p.C295C	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	1078	+			295					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.885C>T	CCDS33290.1																																																																																				0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		T	132238151	C	T	132238151	2	4	167	1	0	0	0	0	0	0	0	1	16744	805	28	3		3	TUBA3D	2	132238151	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	25527580	132238151	110961222	13	11820											
HOXD9	3235	broad.mit.edu	37	chr2	176988850	176988850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatctggtttcagaacCgtaggatgaaaatgaaaaag	18	9	9	5	1	3	3	2	2	1	1	3	4	3	4	1	2	1	2	1	2	8	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:176988850C>A	ENST00000249499.6	+	2	1415	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	336					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTTCAGAACCGTAGGATGAA	0.532																																					GBM(47;924 952 7959 9248 12176)	uc010zex.2																			0		p.E336D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(1006-1008)Cgt>Agt		Homo sapiens homeobox D9 (HOXD9), mRNA.							70	83	79					2																	176988850		2203	4300	6503	SO:0001583	missense	3235					nucleus	sequence-specific DNA binding	g.chr2:176988850C>A		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.1006C>A	2.37:g.176988850C>A	ENSP00000249499:p.Arg336Ser						p.R336S	NM_014213	NP_055028	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	1090	+			336					Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	c.1006C>A	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511374	0.64522	.	.	ENSG00000128709	ENST00000249499	D	0.97710	-4.5	5.7	5.7	0.88788	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.99217	0.9728	H	0.98487	4.245	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98786	1.0734	10	0.87932	D	0	.	12.232	0.54492	0.2647:0.7353:0.0:0.0	.	336	P28356	HXD9_HUMAN	S	336	ENSP00000249499:R336S	ENSP00000249499:R336S	R	+	1	0	HOXD9	176697096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.674000	0.46867	2.694000	0.91930	0.650000	0.86243	CGT		0.532	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			A	176988850	C	A	176988850	3	1	167	1	0	0	0	0	1	0	0	0	7326	652	23	5	1012	5	HOXD9	2	176988850	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	44750699	176988850	66210523	14	11821											
AOX1	316	broad.mit.edu	37	chr2	201478599	201478599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccttttgggctcggcGccaggtgggaaagtggagtt	5	11	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	2	2	5	1	3	rs200716526		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:201478599G>A	ENST00000374700.2	+	15	1762	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGGCTCGGCGCCAGGTGGGA	0.468																																						uc002uvx.3																			1	Substitution - coding silent(1)	p.A507A(2)|p.A507V(1)	upper_aerodigestive_tract(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1519-1521)gcG>gcA		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	G		0,4406		0,0,2203	95	92	93		1521	-7.1	0.6	2		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AOX1	NM_001159.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		507/1339	201478599	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478599G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1521G>A	2.37:g.201478599G>A						AOX1_uc010zhf.2_Silent_p.A63A|AOX1_uc010fsu.3_5'UTR	p.A507A	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1622	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1521G>A	CCDS33360.1																																																																																				0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201478599	G	A	201478599	2	1	167	1	0	0	0	0	0	0	0	1	729	1074	38	1		1	AOX1	2	201478599	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	24489749	201478599	41720774	15	11822											
GRIP2	80852	broad.mit.edu	37	chr3	14552933	14552933	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctacctgtgtgccacgCtgcctttcttgatgtcggag	4	12	11	14	2	1	1	0	1	1	0	2	2	1	2	5	1	3	1	5	1	1	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:14552933C>T	ENST00000273083.3	-	0	1839							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGCCACGCTGCCTTTCTT	0.597																																						uc021wtn.1																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						c.(2062-2064)aGc>aAc		Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.							112	113	113					3																	14552933		2166	4268	6434			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552933C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552933C>T						GRIP2_uc010heh.3_Non-coding_Transcript	p.S688N	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			16	2063	-			592			PDZ 6.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.2063G>A																																																																																					0.597	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		T	14552933	C	T	14552933	1	4	167	0	1	0	0	0	0	0	0	0	6788	797	28	3		3	GRIP2	3	14552933	RNA	SNP	C	TCGA-19-5954-01A-11D-1696-08		14552933	183469497	16	11823											
TRIM71	131405	broad.mit.edu	37	chr3	32915463	32915463	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatgcccagcagggaCgacaggcaatccaggtgagc	11	4	15	11	1	0	2	0	1	0	1	1	4	1	3	2	4	3	3	2	4	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:32915463C>T	ENST00000383763.5	+	2	1069	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	336					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCAGGGACGACAGGCAAT	0.612																																						uc003cff.3																			0		p.R336fs*6(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1006-1008)Cga>Tga		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							82	88	86					3																	32915463		2115	4231	6346	SO:0001587	stop_gained	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32915463C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1006C>T	3.37:g.32915463C>T	ENSP00000373272:p.Arg336*						p.R336*	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			1	1069	+			336						Nonsense_Mutation	SNP	ENST00000383763.5	37	c.1006C>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078839	0.97262	.	.	ENSG00000206557	ENST00000383763	.	.	.	5.83	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-38.6517	15.1708	0.72872	0.1421:0.8579:0.0:0.0	.	.	.	.	X	336	.	ENSP00000373272:R336X	R	+	1	2	TRIM71	32890467	0.998000	0.40836	1.000000	0.80357	0.656000	0.38851	3.818000	0.55678	1.476000	0.48215	-0.152000	0.13540	CGA		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		T	32915463	C	T	32915463	4	4	167	1	0	0	0	0	0	1	0	0	16541	528	19	1	1012	1	TRIM71	3	32915463	Nonsense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	18362530	32915463	165106967	17	11824											
MINA	84864	broad.mit.edu	37	chr3	97686291	97686291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaaagtctctgtcttGatgggcgagattaaactttc	12	14	9	6	1	2	3	0	2	2	1	4	4	2	3	0	1	1	0	0	1	5	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:97686291G>T	ENST00000333396.7	-	2	729	c.147C>A	c.(145-147)atC>atA	p.I49I	MINA_ENST00000330299.2_Silent_p.I49I|MINA_ENST00000394198.2_Silent_p.I49I|MINA_ENST00000360258.4_Silent_p.I49I	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCTCTGTCTTGATGGGCGAGA	0.488																																						uc003drz.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(145-147)atC>atA		Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.							87	93	91					3																	97686291		2203	4300	6503	SO:0001819	synonymous_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97686291G>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.147C>A	3.37:g.97686291G>T						MINA_uc003dsa.1_Silent_p.I49I|MINA_uc003dsb.1_Silent_p.I49I|MINA_uc003dsc.1_Silent_p.I49I|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	p.I49I	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN			1	653	-			49						Silent	SNP	ENST00000333396.7	37	c.147C>A	CCDS43114.1																																																																																				0.488	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		T	97686291	G	T	97686291	2	4	167	1	0	0	0	0	0	0	0	1	9586	1280	45	5		5	MINA	3	97686291	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	64770828	97686291	100336139	18	11825											
ALCAM	214	broad.mit.edu	37	chr3	105238918	105238918	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccccaaaggccttggAtggtatactgtaaattcagc	10	13	8	10	0	1	0	1	0	0	0	2	1	2	1	3	3	2	2	3	3	5	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:105238918A>T	ENST00000306107.5	+	2	581	c.81A>T	c.(79-81)ggA>ggT	p.G27G	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_De_novo_Start_OutOfFrame|ALCAM_ENST00000472644.2_Silent_p.G27G	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	27					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGCCTTGGATGGTATACTG	0.358																																						uc003dvx.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(79-81)ggA>ggT		Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.							107	100	102					3																	105238918		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105238918A>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.81A>T	3.37:g.105238918A>T						ALCAM_uc003dvv.3_Silent_p.G27G|ALCAM_uc003dvw.2_Silent_p.G27G|ALCAM_uc003dvy.3_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	p.G27G	NM_001627	NP_001618	Q13740	CD166_HUMAN			1	777	+			27					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.81A>T	CCDS33810.1																																																																																				0.358	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		T	105238918	A	T	105238918	2	4	167	1	0	0	0	0	0	0	0	1	487	320	12	5		5	ALCAM	3	105238918	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	7552627	105238918	92783512	19	11826											
BCHE	590	broad.mit.edu	37	chr3	165503999	165503999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgagcacgtagtttcgTcattattcttgttgactctg	6	19	9	7	2	3	2	1	2	2	0	4	2	3	2	0	0	1	5	0	0	2	8			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:165503999T>C	ENST00000264381.3	-	3	1784	c.1618A>G	c.(1618-1620)Acg>Gcg	p.T540A	BCHE_ENST00000540653.1_Missense_Mutation_p.T2A	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	540					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CGTAGTTTCGTCATTATTCTT	0.363																																						uc003fem.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1618-1620)Acg>Gcg		Homo sapiens butyrylcholinesterase (BCHE), mRNA.	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						158	143	148					3																	165503999		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165503999T>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1618A>G	3.37:g.165503999T>C	ENSP00000264381:p.Thr540Ala					BCHE_uc003fen.4_Non-coding_Transcript	p.T540A	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1778	-			540					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1618A>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	T	5.617	0.298597	0.10622	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653;ENST00000488954	D;D;T;D	0.95307	-3.67;-3.67;-1.14;-3.67	5.48	-0.221	0.13126	Acetylcholinesterase, tetramerisation (1);Carboxylesterase, type B (1);	0.494884	0.21019	N	0.081543	D	0.85813	0.5784	L	0.28054	0.825	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.73538	-0.3951	10	0.40728	T	0.16	.	1.9942	0.03453	0.1256:0.2359:0.1221:0.5164	.	540	P06276	CHLE_HUMAN	A	540;70;2;70	ENSP00000264381:T540A;ENSP00000418325:T70A;ENSP00000443583:T2A;ENSP00000418504:T70A	ENSP00000264381:T540A	T	-	1	0	BCHE	166986693	0.028000	0.19301	0.007000	0.13788	0.023000	0.10783	0.082000	0.14847	0.050000	0.15949	0.533000	0.62120	ACG		0.363	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			C	165503999	T	C	165503999	3	2	167	1	0	0	0	0	1	0	0	0	1358	1667	58	4	198	4	BCHE	3	165503999	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	60265081	165503999	32518431	20	11827											
PIK3CA	5290	broad.mit.edu	37	chr3	178916623	178916623	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagaacaatgcctccaCgaccatcatcaggtgaactg	14	7	8	12	1	3	2	3	1	0	1	4	4	4	2	3	1	3	0	3	1	4	0	rs1051397		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916623C>T	ENST00000263967.3	+	2	167	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	4					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGCCTCCACGACCATCATC	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(10-12)Cga>Tga		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							49	49	49					3																	178916623		1869	4094	5963	SO:0001587	stop_gained	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916623C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.10C>T	3.37:g.178916623C>T	ENSP00000263967:p.Arg4*	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R4*	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	167	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		4					Q14CW1|Q99762	Nonsense_Mutation	SNP	ENST00000263967.3	37	c.10C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673277	0.88445	.	.	ENSG00000121879	ENST00000477735;ENST00000263967;ENST00000468036	.	.	.	5.37	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-9.5854	12.1587	0.54091	0.5222:0.4778:0.0:0.0	.	.	.	.	X	4	.	ENSP00000263967:R4X	R	+	1	2	PIK3CA	180399317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.602000	0.61098	1.079000	0.41038	0.650000	0.86243	CGA		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178916623	C	T	178916623	4	4	167	1	0	0	0	0	0	1	0	0	11913	528	19	1	12	1	PIK3CA	3	178916623	Nonsense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	13412624	178916623	19105807	21	11828											
PIK3CA	5290	broad.mit.edu	37	chr3	178916945	178916945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaggcaaccgtgaagaaaAgatcctcaatcgagaaattg	17	7	10	7	2	1	4	1	1	0	3	3	5	2	4	2	1	1	2	2	1	7	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916945A>G	ENST00000263967.3	+	2	489	c.332A>G	c.(331-333)aAg>aGg	p.K111R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111_L113delKIL(2)|p.K111R(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CGTGAAGAAAAGATCCTCAAT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Deletion - In frame(3)|Substitution - Missense(1)	p.K111N(13)|p.K111E(12)|p.E110K(4)|p.K111_L113delKIL(3)|p.K111R(2)|p.K111del(2)|p.K111_I112>N(1)	breast(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(331-333)aAg>aGg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							82	78	80					3																	178916945		1821	4069	5890	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916945A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.332A>G	3.37:g.178916945A>G	ENSP00000263967:p.Lys111Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K111R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	489	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		111					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.332A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944242	0.73672	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74737	0.87;-0.87	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.86497	0.1801	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	R	111	ENSP00000263967:K111R;ENSP00000417479:K111R	.	K	+	2	0	PIK3CA	180399639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.058000	0.76676	2.089000	0.63090	0.454000	0.30748	AAG		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178916945	A	G	178916945	3	3	167	1	0	0	0	0	1	0	0	0	11913	72	3	4	334	4	PIK3CA	3	178916945	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	322	178916945	19105485	22	11829											
WDR1	9948	broad.mit.edu	37	chr4	10099515	10099515	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggaagactgctccaaaCcttgacccaatgacacaggt	14	6	9	12	0	0	4	0	2	0	2	1	5	1	5	3	2	2	1	3	2	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:10099515C>T	ENST00000499869.2	-	5	571	c.378G>A	c.(376-378)aaG>aaA	p.K126K	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Splice_Site_p.K126K			O75083	WDR1_HUMAN	WD repeat domain 1	126					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCTCCAAACCTTGACCCAA	0.478																																						uc021xlv.1																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.e5-1		Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.							46	43	44					4																	10099515		1960	4148	6108	SO:0001630	splice_region_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10099515C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.378-1G>A	4.37:g.10099515C>T						WDR1_uc021xlw.1_Intron	p.K126_splice	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	661	-			126					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.378_splice	CCDS54740.1																																																																																				0.478	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		Silent	T	10099515	C	T	10099515	5	4	167	1	0	0	0	0	0	0	1	0	17269	521	18	3	1486	3	WDR1	4	10099515	Splice_Site	SNP	C	TCGA-19-5954-01A-11D-1696-08		10099515	181054761	23	11830											
CDKL2	8999	broad.mit.edu	37	chr4	76539498	76539498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaatacttttgaactaCttggtagtctagtccatttg	13	15	6	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	1	1	1	7	8			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:76539498C>G	ENST00000429927.2	-	3	1007	c.304G>C	c.(304-306)Gta>Cta	p.V102L	CDKL2_ENST00000307465.4_Missense_Mutation_p.V102L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTTGAACTACTTGGTAGTCT	0.313																																						uc011cbp.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(304-306)Gta>Cta		Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.							82	86	85					4																	76539498		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539498C>G	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.304G>C	4.37:g.76539498C>G	ENSP00000412365:p.Val102Leu					CDKL2_uc003hiq.3_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	p.V102L	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	829	-			102			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.304G>C	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532540	0.13127	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.64260	-0.09;-0.09	5.16	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.36496	0.0969	N	0.10874	0.06	0.30449	N	0.775458	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25847	-1.0120	9	0.23891	T	0.37	-0.2573	3.9508	0.09368	0.0:0.2065:0.3919:0.4015	.	102;102	B4DH08;Q92772	.;CDKL2_HUMAN	L	102	ENSP00000412365:V102L;ENSP00000306340:V102L	ENSP00000306340:V102L	V	-	1	0	CDKL2	76758522	0.997000	0.39634	0.997000	0.53966	0.969000	0.65631	1.440000	0.35024	0.702000	0.31825	0.313000	0.20887	GTA		0.313	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		G	76539498	C	G	76539498	3	3	167	1	0	0	0	0	1	0	0	0	3154	565	20	5	1213	5	CDKL2	4	76539498	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	66439983	76539498	114614778	24	11831											
HTR1A	3350	broad.mit.edu	37	chr5	63256355	63256355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagtatgcgtaaatgaCggggttaagcagagagttgg	12	10	16	3	2	0	3	0	2	0	1	0	4	0	3	0	3	2	6	0	3	5	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:63256355C>T	ENST00000323865.3	-	1	1425	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	398					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGTAAATGACGGGGTTAAGC	0.517																																						uc011cqt.2																			0		p.P397H(1)|p.P397P(1)|p.P397T(1)|p.P397N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1192-1194)Gtc>Atc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						199	207	204					5																	63256355		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256355C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1192G>A	5.37:g.63256355C>T	ENSP00000316244:p.Val398Ile						p.V398I	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	0	1192	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	398					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1192G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.924839	0.00493	.	.	ENSG00000178394	ENST00000323865	T	0.32753	1.44	5.82	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.112998	0.64402	D	0.000018	T	0.06872	0.0175	N	0.00690	-1.25	0.38579	D	0.950133	B	0.17268	0.021	B	0.12156	0.007	T	0.28808	-1.0032	10	0.02654	T	1	.	6.3635	0.21441	0.0:0.5919:0.0:0.4081	.	398	P08908	5HT1A_HUMAN	I	398	ENSP00000316244:V398I	ENSP00000316244:V398I	V	-	1	0	HTR1A	63292111	0.975000	0.34042	0.683000	0.30040	0.099000	0.18886	2.044000	0.41241	0.814000	0.34374	0.655000	0.94253	GTC		0.517	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		T	63256355	C	T	63256355	3	4	167	1	0	0	0	0	1	0	0	0	7436	536	19	1	79	1	HTR1A	5	63256355	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		63256355	117658905	25	11832											
GPR98	84059	broad.mit.edu	37	chr5	90049615	90049615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgggctggcgtgctgcGtctgtcttcattagagtagc	4	14	15	8	2	3	1	1	0	2	1	3	1	3	1	0	3	3	3	0	3	2	4	rs375790811		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:90049615G>A	ENST00000405460.2	+	54	11442	c.11346G>A	c.(11344-11346)gcG>gcA	p.A3782A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3782	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCGTGCTGCGTCTGTCTTCA	0.368																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11344-11346)gcG>gcA		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							47	44	45					5																	90049615		1915	4142	6057	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90049615G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11346G>A	5.37:g.90049615G>A						GPR98_uc003kjt.3_Silent_p.A1488A|GPR98_uc003kjv.3_Silent_p.A1382A	p.A3782A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	53	11442	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3782					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.11346G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.258	-1.001397	0.02128	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.67	1.05	0.20165	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	.	1.628	0.02727	0.1939:0.1289:0.4199:0.2573	.	.	.	.	H	1348	.	.	R	+	2	0	GPR98	90085371	0.030000	0.19436	0.654000	0.29608	0.015000	0.08874	-0.817000	0.04472	0.723000	0.32274	0.655000	0.94253	CGT		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90049615	G	A	90049615	2	1	167	1	0	0	0	0	0	0	0	1	6721	1132	40	1		1	GPR98	5	90049615	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	26793260	90049615	90865645	26	11833											
PCDHA8	56140	broad.mit.edu	37	chr5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagatcagcaccactcGtgtcctggacgaagcggact	9	6	14	12	4	1	1	1	0	0	1	3	5	2	3	2	3	2	1	2	3	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1903-1905)cGt>cAt		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							112	110	111					5																	140222810		2198	4268	6466	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222810G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1904G>A	5.37:g.140222810G>A	ENSP00000434655:p.Arg635His					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R635H	p.R635H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1904	+			646			Cadherin 6.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1904G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002912	T	0.70745	0.3259	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.63283	0.913;0.84	T	0.65578	-0.6134	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	635;635	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	635	ENSP00000434655:R635H;ENSP00000367363:R635H	ENSP00000367363:R635H	R	+	2	0	PCDHA8	140202994	0.611000	0.26992	0.405000	0.26409	0.126000	0.20510	3.932000	0.56537	1.624000	0.50355	0.313000	0.20887	CGT		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222810	G	A	140222810	3	1	167	1	0	0	0	0	1	0	0	0	11530	1145	40	1	1906	1	PCDHA8	5	140222810	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	50173195	140222810	40692450	27	11834											
KIF4B	285643	broad.mit.edu	37	chr5	154395782	154395782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaaaaaggaatctcGggagaatccacctcctaaac	19	5	7	10	1	1	2	0	0	1	2	4	4	3	3	3	2	1	0	3	2	8	1	rs370994878		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:154395782G>A	ENST00000435029.4	+	1	2523	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	788	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGGAATCTCGGGAGAATCCA	0.438																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2362-2364)cGg>cAg		Homo sapiens kinesin family member 4B (KIF4B), mRNA.		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	47	50	49		2363	0.5	0.9	5		49	0,8600		0,0,4300	no	missense	KIF4B	NM_001099293.1	43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	788/1235	154395782	1,13001	2201	4300	6501	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395782G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2363G>A	5.37:g.154395782G>A	ENSP00000387875:p.Arg788Gln						p.R788Q	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	2523	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	788			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2363G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	4.483	0.089628	0.08632	2.27E-4	0.0	ENSG00000226650	ENST00000435029	T	0.66995	-0.24	1.48	0.541	0.17168	.	.	.	.	.	T	0.44095	0.1277	N	0.14661	0.345	0.09310	N	0.999998	B	0.15719	0.014	B	0.17433	0.018	T	0.24548	-1.0157	9	0.13470	T	0.59	.	8.7561	0.34645	0.1597:0.0:0.8403:0.0	.	788	Q2VIQ3	KIF4B_HUMAN	Q	788	ENSP00000387875:R788Q	ENSP00000387875:R788Q	R	+	2	0	KIF4B	154375975	1.000000	0.71417	0.947000	0.38551	0.482000	0.33219	3.284000	0.51708	-0.171000	0.10797	-1.119000	0.02030	CGG		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154395782	G	A	154395782	3	1	167	1	0	0	0	0	1	0	0	0	8304	1116	39	2	2365	2	KIF4B	5	154395782	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	14172972	154395782	26519478	28	11835											
ME1	4199	broad.mit.edu	37	chr6	84056027	84056027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtctcccaagccaagaatAcgctctccatcagtcaccac	12	7	6	16	1	4	1	2	0	2	1	6	1	4	1	4	1	2	1	4	1	4	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:84056027A>G	ENST00000369705.3	-	5	581	c.465T>C	c.(463-465)cgT>cgC	p.R155R	ME1_ENST00000543031.1_Silent_p.R80R|ME1_ENST00000541327.1_5'UTR	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	155					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AGCCAAGAATACGCTCTCCAT	0.428																																						uc003pjy.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(463-465)cgT>cgC		Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	NADH(DB00157)						71	65	67					6																	84056027		2203	4300	6503	SO:0001819	synonymous_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84056027A>G	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.465T>C	6.37:g.84056027A>G						ME1_uc011dzb.2_Silent_p.R80R|ME1_uc011dzc.2_5'UTR	p.R155R	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	4	730	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	155					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	c.465T>C	CCDS34492.1																																																																																				0.428	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			G	84056027	A	G	84056027	2	3	167	1	0	0	0	0	0	0	0	1	9417	378	14	4		4	ME1	6	84056027	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08		84056027	87059040	29	11836											
PRDM13	59336	broad.mit.edu	37	chr6	100062503	100062503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgccaaagcgggcgaCggcccgggtgccgagcccgg	5	3	17	16	7	0	0	0	0	0	0	1	2	0	0	4	4	4	1	4	4	1	0	rs546224169		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:100062503C>T	ENST00000369215.4	+	4	2297	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	664					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AAGCGGGCGACGGCCCGGGTG	0.687																																						uc003pqg.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1990-1992)gaC>gaT		Homo sapiens PR domain containing 13 (PRDM13), mRNA.							12	14	14					6																	100062503		1798	3909	5707	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062503C>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1992C>T	6.37:g.100062503C>T							p.D664D	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	2253	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	664					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1992C>T	CCDS43487.1																																																																																				0.687	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			T	100062503	C	T	100062503	2	4	167	1	0	0	0	0	0	0	0	1	12454	535	19	1		1	PRDM13	6	100062503	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	16006476	100062503	71052564	30	11837											
C6orf170	221322	broad.mit.edu	37	chr6	121427228	121427228	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagaggcaactcagcctTcagtagcatttcaatataat	15	10	6	10	0	3	1	3	0	0	1	3	1	3	1	1	1	3	3	1	1	6	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:121427228T>A	ENST00000398212.2	-	30	3455	c.3406A>T	c.(3406-3408)Aag>Tag	p.K1136*	TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.K1177*|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1136	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AACTCAGCCTTCAGTAGCATT	0.393																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(3406-3408)Aag>Tag		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.							193	191	191					6																	121427228		1872	4091	5963	SO:0001587	stop_gained	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121427228T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3406A>T	6.37:g.121427228T>A	ENSP00000381270:p.Lys1136*						p.K1136*	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	29	3474	-			1136			Rab-GAP TBC.		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	37	c.3406A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	41	8.551614	0.98859	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4333	0.67266	0.0:0.0:0.0:1.0	.	.	.	.	X	1177;1136	.	ENSP00000275159:K1177X	K	-	1	0	C6orf170	121468927	1.000000	0.71417	0.544000	0.28141	0.226000	0.24999	6.666000	0.74446	2.239000	0.73571	0.528000	0.53228	AAG		0.393	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		A	121427228	T	A	121427228	4	1	167	1	0	0	0	0	0	1	0	0	2344	1792	62	5	379	5	C6orf170	6	121427228	Nonsense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	21364725	121427228	49687839	31	11838											
SYNE1	23345	broad.mit.edu	37	chr6	152660497	152660497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgcaaagctctgaagtgtTtgacctggaaaaggcagtta	12	11	11	7	0	1	2	0	2	1	0	1	3	1	3	1	2	2	5	1	2	5	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:152660497T>C	ENST00000367255.5	-	75	12831	c.12230A>G	c.(12229-12231)aAa>aGa	p.K4077R	SYNE1_ENST00000448038.1_Missense_Mutation_p.K4006R|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3942R|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4077R|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4006R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4077					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGAAGTGTTTGACCTGGAA	0.403										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12229-12231)aAa>aGa		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							128	114	119					6																	152660497		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152660497T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12230A>G	6.37:g.152660497T>C	ENSP00000356224:p.Lys4077Arg	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.K4006R|SYNE1_uc003qou.4_Missense_Mutation_p.K4077R|SYNE1_uc010kja.2_Missense_Mutation_p.K782R	p.K4077R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	72	12453	-		Ovarian(120;0.0955)	4077					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12230A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974426	0.74246	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	T	0.50034	0.1592	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.74348	0.972;0.972;0.972;0.983	T	0.54282	-0.8317	10	0.72032	D	0.01	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	4077;4077;4077;4006	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	4077;4006;4077;4006;3942	ENSP00000356224:K4077R;ENSP00000396024:K4006R;ENSP00000265368:K4077R;ENSP00000390975:K4006R;ENSP00000341887:K3942R	ENSP00000265368:K4077R	K	-	2	0	SYNE1	152702190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.632000	0.83247	2.223000	0.72356	0.533000	0.62120	AAA		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152660497	T	C	152660497	3	2	167	1	0	0	0	0	1	0	0	0	15442	1841	64	4	14524	4	SYNE1	6	152660497	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	31233269	152660497	18454570	32	11839											
SNX13	23161	broad.mit.edu	37	chr7	17861198	17861198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgataggttttccacatctcCtcactgtttaggttgcgccg	6	14	9	12	3	2	0	1	0	1	0	4	1	3	0	3	2	1	3	3	2	2	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:17861198C>T	ENST00000409389.1	-	18	1984	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.E593E			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	604	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCCACATCTCCTCACTGTTTA	0.413																																						uc003stv.3																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1777-1779)gaG>gaA		Homo sapiens sorting nexin 13 (SNX13), mRNA.							160	158	159					7																	17861198		1934	4135	6069	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17861198C>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1812G>A	7.37:g.17861198C>T						SNX13_uc010kuc.3_Silent_p.E390E|SNX13_uc003stw.1_Silent_p.E604E|SNX13_uc010kub.3_5'UTR	p.E593E	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN			17	1992	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		604			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.1779G>A																																																																																					0.413	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		T	17861198	C	T	17861198	2	4	167	1	0	0	0	0	0	0	0	1	14884	680	24	3		3	SNX13	7	17861198	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		17861198	141277465	33	11840											
CHN2	1124	broad.mit.edu	37	chr7	29407583	29407583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcacctcgtcccaagAgaatcatttgtcctcgggag	11	8	11	11	2	1	2	1	0	0	2	5	4	3	3	3	2	0	1	3	2	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:29407583A>G	ENST00000222792.6	+	3	654	c.124A>G	c.(124-126)Aga>Gga	p.R42G	CHN2_ENST00000539389.1_Missense_Mutation_p.R42G|CHN2_ENST00000435288.2_Missense_Mutation_p.R42G|CHN2_ENST00000495789.2_Missense_Mutation_p.R55G|CHN2_ENST00000539406.1_Missense_Mutation_p.R117G|CHN2_ENST00000546235.1_Missense_Mutation_p.R27G	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	42					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCGTCCCAAGAGAATCATTTG	0.403																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(124-126)Aga>Gga		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							117	114	115					7																	29407583		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29407583A>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.124A>G	7.37:g.29407583A>G	ENSP00000222792:p.Arg42Gly					CHN2_uc011jzs.2_Missense_Mutation_p.R117G|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R55G|CHN2_uc010kvd.3_Missense_Mutation_p.R42G|CHN2_uc011jzu.2_Missense_Mutation_p.R27G	p.R42G	NM_004067	NP_004058	P52757	CHIO_HUMAN			2	561	+			42					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.124A>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110867	0.77210	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.71579	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.58;-0.04	5.12	5.12	0.69794	.	0.099589	0.64402	D	0.000002	T	0.79902	0.4526	L	0.57536	1.79	0.80722	D	1	P;D;D;B;D	0.61080	0.882;0.967;0.989;0.116;0.967	P;P;D;B;P	0.75020	0.449;0.879;0.985;0.014;0.879	T	0.78494	-0.2182	10	0.34782	T	0.22	.	13.1551	0.59511	1.0:0.0:0.0:0.0	.	27;55;117;42;42	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	G	117;117;42;42;55;55;42;27	ENSP00000409843:R117G;ENSP00000444063:R117G;ENSP00000222792:R42G;ENSP00000400282:R42G;ENSP00000386968:R55G;ENSP00000438587:R55G;ENSP00000440526:R42G;ENSP00000442812:R27G	ENSP00000222792:R42G	R	+	1	2	CHN2	29374108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.522000	0.73783	1.934000	0.56057	0.477000	0.44152	AGA		0.403	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		G	29407583	A	G	29407583	3	3	167	1	0	0	0	0	1	0	0	0	3363	296	11	4	134	4	CHN2	7	29407583	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	11546385	29407583	129731080	34	11841											
PLEKHA8	84725	broad.mit.edu	37	chr7	30088881	30088882	+	Frame_Shift_Ins	INS	-	-	A																															tgctgaaatcaacctgtaatINSacttttctgaagaccttgga																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:30088881_30088882insA	ENST00000449726.1	+	5	830_831	c.480_481insA	c.(481-483)actfs	p.T161fs	PLEKHA8_ENST00000396259.1_Frame_Shift_Ins_p.T161fs|PLEKHA8_ENST00000396257.2_Frame_Shift_Ins_p.T161fs|PLEKHA8_ENST00000258679.7_Frame_Shift_Ins_p.T161fs	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	161					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAACCTGTAATACTTTTCTGAA	0.465																																						uc003taq.3																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(478-483)aatactfs		Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30088881_30088882insA	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.481dupA	7.37:g.30088882_30088882dupA	ENSP00000397947:p.Thr161fs					PLEKHA8_uc022aba.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.3_Frame_Shift_Ins_p.N160fs	p.N160fs	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN			4	882_883	+			160					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Frame_Shift_Ins	INS	ENST00000449726.1	37	c.480_481insA	CCDS56473.1																																																																																				0.465	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		A	30088882	-	A	30088881	7	5	167	1	0	1	1	0	0	0	0	0	12062	1403	49	0	498	0	PLEKHA8	7	30088881	Frame_Shift_Ins	INS	-	TCGA-19-5954-01A-11D-1696-08	681298	30088881	129049782	35	11842											
CDK13	8621	broad.mit.edu	37	chr7	40117639	40117639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcctgcagtgtggcCtgatgtaatcaaactaccat	10	12	8	11	0	1	1	1	1	0	0	3	1	3	1	4	1	3	2	4	1	3	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:40117639C>T	ENST00000181839.4	+	10	3421	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CDK13_ENST00000340829.5_Missense_Mutation_p.P939L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAGTGTGGCCTGATGTAATC	0.368																																						uc003thh.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2815-2817)cCt>cTt		Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.							234	214	221					7																	40117639		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40117639C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2816C>T	7.37:g.40117639C>T	ENSP00000181839:p.Pro939Leu					CDK13_uc003thi.4_Missense_Mutation_p.P939L|CDK13_uc003thj.3_5'UTR	p.P939L	NM_003718	NP_003709	Q14004	CDK13_HUMAN			9	3098	+			939			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2816C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219837	0.95139	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.66099	-0.19;-0.19	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80803	0.4693	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79897	-0.1609	8	.	.	.	-9.2909	20.0184	0.97486	0.0:1.0:0.0:0.0	.	939;939	Q14004-2;Q14004	.;CDK13_HUMAN	L	939	ENSP00000181839:P939L;ENSP00000340557:P939L	.	P	+	2	0	CDK13	40084164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	CCT		0.368	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		T	40117639	C	T	40117639	3	4	167	1	0	0	0	0	1	0	0	0	3129	681	24	3	2854	3	CDK13	7	40117639	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	10028758	40117639	119021024	36	11843											
ABCB1	5243	broad.mit.edu	37	chr7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtaggctccaaacCggaaacatccagcataggaa	16	4	8	13	1	0	0	0	0	0	0	2	2	2	2	5	3	3	3	5	3	6	2	rs144369247	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:87148696C>T	ENST00000265724.3	-	24	3290	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R894Q|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GGCTCCAAACCGGAAACATCC	0.383													C|||	2	0.000399361	0	0	5008	,	,		21852	0		0	False		,,,				2504	0.002					uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2872-2874)cGg>cAg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C	GLN/ARG	0,4406		0,0,2203	95	87	90		2873	4.9	1	7	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCB1	NM_000927.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	958/1281	87148696	1,13005	2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148696C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2873G>A	7.37:g.87148696C>T	ENSP00000265724:p.Arg958Gln					ABCB1_uc011khc.2_Missense_Mutation_p.R894Q	p.R958Q	NM_000927	NP_000918	P08183	MDR1_HUMAN			23	3366	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2873G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556119	0.65425	0.0	1.16E-4	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89617	-2.54;-2.54	5.79	4.92	0.64577	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	N	0.000013	D	0.87168	0.6110	M	0.73753	2.245	0.44155	D	0.996951	P;P	0.45715	0.672;0.865	B;B	0.35278	0.076;0.199	D	0.87917	0.2701	10	0.56958	D	0.05	-10.1447	14.8877	0.70582	0.0:0.9313:0.0:0.0687	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	Q	739;958;894	ENSP00000265724:R958Q;ENSP00000444095:R894Q	ENSP00000265724:R958Q	R	-	2	0	ABCB1	86986632	0.994000	0.37717	1.000000	0.80357	0.968000	0.65278	3.169000	0.50809	1.459000	0.47892	0.561000	0.74099	CGG		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87148696	C	T	87148696	3	4	167	1	0	0	0	0	1	0	0	0	40	652	23	2	993	2	ABCB1	7	87148696	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	47031057	87148696	71989967	37	11844											
SAMD9L	219285	broad.mit.edu	37	chr7	92761184	92761184	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttgagttttgctgcagTaggaaggcatattcattcac	9	17	9	6	0	2	1	2	1	0	0	2	2	2	2	0	2	2	5	0	2	3	9			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:92761184T>C	ENST00000318238.4	-	5	5317	c.4101A>G	c.(4099-4101)ctA>ctG	p.L1367L	SAMD9L_ENST00000411955.1_Silent_p.L1367L|SAMD9L_ENST00000437805.1_Silent_p.L1367L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1367					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCTGCAGTAGGAAGGCAT	0.383																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4099-4101)ctA>ctG		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							163	158	160					7																	92761184		2203	4299	6502	SO:0001819	synonymous_variant	219285							g.chr7:92761184T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4101A>G	7.37:g.92761184T>C						SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc022ahh.1_Silent_p.L1367L	p.L1367L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	5317	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1367					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.4101A>G	CCDS34681.1																																																																																				0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92761184	T	C	92761184	2	2	167	1	0	0	0	0	0	0	0	1	13827	1625	57	4		4	SAMD9L	7	92761184	Silent	SNP	T	TCGA-19-5954-01A-11D-1696-08	5612488	92761184	66377479	38	11845											
MUC17	140453	broad.mit.edu	37	chr7	100685627	100685627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccattatgcctgtcagcAccacatcggtgaccatttct	10	12	6	13	1	2	1	1	1	1	0	3	1	2	1	4	1	3	1	4	1	2	3	rs199996089		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:100685627A>G	ENST00000306151.4	+	3	10994	c.10930A>G	c.(10930-10932)Acc>Gcc	p.T3644A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3644	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTGTCAGCACCACATCGGT	0.478																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10930-10932)Acc>Gcc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							176	161	166					7																	100685627		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685627A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10930A>G	7.37:g.100685627A>G	ENSP00000302716:p.Thr3644Ala					MUC17_uc010lho.1_Non-coding_Transcript	p.T3644A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	10983	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3644			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10930A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	7.536	0.659659	0.14645	.	.	ENSG00000169876	ENST00000306151	T	0.01821	4.62	1.22	-0.0325	0.13905	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	D	0.67103	0.949	T	0.43261	-0.9402	9	0.08599	T	0.76	.	4.4328	0.11536	0.778:0.0:0.222:0.0	.	3644	Q685J3	MUC17_HUMAN	A	3644	ENSP00000302716:T3644A	ENSP00000302716:T3644A	T	+	1	0	MUC17	100472347	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.413000	0.21148	-0.018000	0.14079	0.156000	0.16432	ACC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100685627	A	G	100685627	3	3	167	1	0	0	0	0	1	0	0	0	9974	159	6	4	10940	4	MUC17	7	100685627	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	7924443	100685627	58453036	39	11846											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651361	121651361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaacccaaccggtatacaAtggtgagacacctcttcaac	14	7	7	13	1	2	1	1	1	1	1	2	3	2	1	3	2	4	1	3	2	6	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:121651361A>G	ENST00000393386.2	+	12	2672	c.2261A>G	c.(2260-2262)aAt>aGt	p.N754S	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N754S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	754					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCGGTATACAATGGTGAGACA	0.488																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2260-2262)aAt>aGt		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							184	164	171					7																	121651361		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651361A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2261A>G	7.37:g.121651361A>G	ENSP00000377047:p.Asn754Ser					PTPRZ1_uc011knt.2_Missense_Mutation_p.N754S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.N754S	p.N754S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			11	2656	+			754					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2261A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470213	0.43942	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75938	0.57;-0.98	5.87	5.87	0.94306	.	0.073354	0.56097	D	0.000024	D	0.85526	0.5717	M	0.72894	2.215	0.42125	D	0.991447	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.985;0.985	D	0.87288	0.2297	10	0.87932	D	0	.	16.2622	0.82552	1.0:0.0:0.0:0.0	.	754;754;754	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	S	754	ENSP00000377047:N754S;ENSP00000410000:N754S	ENSP00000377047:N754S	N	+	2	0	PTPRZ1	121438597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.242000	0.73789	0.533000	0.62120	AAT		0.488	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121651361	A	G	121651361	3	3	167	1	0	0	0	0	1	0	0	0	12814	101	4	4	2307	4	PTPRZ1	7	121651361	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	20965734	121651361	37487302	40	11847											
OR6V1	346517	broad.mit.edu	37	chr7	142749543	142749543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatgctttatcttctcGccttcatgggaaacaccatc	8	14	5	14	1	4	0	2	0	2	0	7	1	5	1	3	1	2	1	3	1	2	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:142749543G>A	ENST00000418316.1	+	1	127	c.106G>A	c.(106-108)Gcc>Acc	p.A36T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTATCTTCTCGCCTTCATGGG	0.498																																						uc011ksv.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(106-108)Gcc>Acc		Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.							227	216	219					7																	142749543		1994	4167	6161	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749543G>A		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.106G>A	7.37:g.142749543G>A	ENSP00000396085:p.Ala36Thr						p.A36T	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			0	106	+	Melanoma(164;0.059)		36					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.106G>A	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	1.211	-0.629570	0.03610	.	.	ENSG00000225781	ENST00000418316	T	0.04015	3.73	4.14	-2.94	0.05581	.	.	.	.	.	T	0.00998	0.0033	N	0.00677	-1.265	0.09310	N	1	B	0.30686	0.29	B	0.17722	0.019	T	0.41662	-0.9496	9	0.23302	T	0.38	.	0.3551	0.00355	0.3646:0.1376:0.218:0.2798	.	36	Q8N148	OR6V1_HUMAN	T	36	ENSP00000396085:A36T	ENSP00000396085:A36T	A	+	1	0	OR6V1	142459665	0.002000	0.14202	0.000000	0.03702	0.201000	0.24016	0.543000	0.23237	-1.012000	0.03387	0.561000	0.74099	GCC		0.498	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			A	142749543	G	A	142749543	3	1	167	1	0	0	0	0	1	0	0	0	11211	1087	38	1	108	1	OR6V1	7	142749543	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	21098182	142749543	16389120	41	11848											
IDO2	169355	broad.mit.edu	37	chr8	39836613	39836613	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagctgccagttcctgAagggtcaccgggagcagcgc	7	7	15	12	2	1	2	1	2	0	0	2	3	2	3	3	2	5	4	3	2	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:39836613A>T	ENST00000389060.4	+	3	223	c.223A>T	c.(223-225)Aag>Tag	p.K75*	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Nonsense_Mutation_p.K88*			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	75					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCAGTTCCTGAAGGGTCACCG	0.637																																						uc010lwy.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(262-264)Aag>Tag		Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.							27	30	29					8																	39836613		1991	4168	6159	SO:0001587	stop_gained	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39836613A>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.223A>T	8.37:g.39836613A>T	ENSP00000426447:p.Lys75*					IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR	p.K88*	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			3	504	+			75					A4UD41	Nonsense_Mutation	SNP	ENST00000389060.4	37	c.262A>T		.	.	.	.	.	.	.	.	.	.	A	17.98	3.520737	0.64747	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	.	.	.	5.36	4.18	0.49190	.	0.805437	0.11873	N	0.521212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4168	0.38525	0.8207:0.1793:0.0:0.0	.	.	.	.	X	88;75	.	.	K	+	1	0	IDO2	39955770	0.001000	0.12720	0.007000	0.13788	0.185000	0.23345	0.406000	0.21032	0.869000	0.35703	0.383000	0.25322	AAG		0.637	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		T	39836613	A	T	39836613	4	4	167	1	0	0	0	0	0	1	0	0	7502	247	9	5	276	5	IDO2	8	39836613	Nonsense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		39836613	106527409	42	11849											
FBXO43	286151	broad.mit.edu	37	chr8	101149805	101149805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacattacctcagaatctgtTttcagttgtgtgatataaaa	13	16	6	6	0	3	2	2	1	1	1	3	2	3	2	1	0	2	2	1	0	6	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:101149805T>C	ENST00000428847.2	-	3	1978	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	554					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGAATCTGTTTTCAGTTGTG	0.308																																						uc003yjd.3																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1660-1662)aaA>aaG		Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.							109	101	104					8																	101149805		1811	4067	5878	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101149805T>C	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1662A>G	8.37:g.101149805T>C						FBXO43_uc003yje.3_Silent_p.K520K|FBXO43_uc010mbp.2_Silent_p.K554K	p.K554K	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	2398	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		554						Silent	SNP	ENST00000428847.2	37	c.1662A>G	CCDS47904.1																																																																																				0.308	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		C	101149805	T	C	101149805	2	2	167	1	0	0	0	0	0	0	0	1	5752	1838	64	4		4	FBXO43	8	101149805	Silent	SNP	T	TCGA-19-5954-01A-11D-1696-08	61313192	101149805	45214217	43	11850											
TRPM6	140803	broad.mit.edu	37	chr9	77436668	77436668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccaccactgggtccttGtccttgacagtctcccacac	8	9	6	18	0	1	1	0	1	1	0	4	1	3	1	5	1	0	0	5	1	0	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr9:77436668G>T	ENST00000360774.1	-	8	1164	c.927C>A	c.(925-927)gaC>gaA	p.D309E	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Missense_Mutation_p.D309E|TRPM6_ENST00000376871.3_Missense_Mutation_p.D309E|TRPM6_ENST00000361255.3_Missense_Mutation_p.D304E|TRPM6_ENST00000376872.3_Missense_Mutation_p.D309E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D304E|TRPM6_ENST00000451710.3_Missense_Mutation_p.D309E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	309					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGGGTCCTTGTCCTTGACAG	0.592																																						uc004ajl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(925-927)gaC>gaA		Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.							155	109	125					9																	77436668		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77436668G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.927C>A	9.37:g.77436668G>T	ENSP00000354006:p.Asp309Glu					TRPM6_uc004ajk.1_Missense_Mutation_p.D304E|TRPM6_uc022bib.1_Missense_Mutation_p.D304E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D309E|TRPM6_uc010mpd.1_Missense_Mutation_p.D309E|TRPM6_uc010mpe.1_Intron	p.D309E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			7	1165	-			309					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.927C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	8.826	0.938746	0.18206	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.47	4.54	0.55810	.	0.344486	0.36200	N	0.002735	T	0.14527	0.0351	N	0.03903	-0.33	0.20196	N	0.99993	B;B;B;B	0.18741	0.001;0.005;0.002;0.03	B;B;B;B	0.16289	0.004;0.007;0.011;0.015	T	0.12967	-1.0527	10	0.05833	T	0.94	.	12.5995	0.56489	0.0:0.1256:0.744:0.1304	.	309;309;309;304	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	E	309;309;309;309;304;304;309	ENSP00000354006:D309E;ENSP00000407341:D309E;ENSP00000366068:D309E;ENSP00000366067:D309E;ENSP00000396672:D304E;ENSP00000354962:D304E;ENSP00000366060:D309E	ENSP00000354006:D309E	D	-	3	2	TRPM6	76626488	0.004000	0.15560	0.744000	0.31058	0.944000	0.59088	0.518000	0.22847	2.567000	0.86603	0.561000	0.74099	GAC		0.592	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77436668	G	T	77436668	3	4	167	1	0	0	0	0	1	0	0	0	16587	1368	48	5	5269	5	TRPM6	9	77436668	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		77436668	63776763	44	11851											
MYOF	26509	broad.mit.edu	37	chr10	95148849	95148849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactctctggggcttccatAaagattcaggtaacaaggtc	11	11	10	9	0	2	1	1	0	1	1	5	1	3	1	1	4	2	3	1	4	5	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:95148849A>G	ENST00000359263.4	-	18	1518	c.1519T>C	c.(1519-1521)Tat>Cat	p.Y507H	MYOF_ENST00000358334.5_Missense_Mutation_p.Y494H|MYOF_ENST00000371501.4_Missense_Mutation_p.Y507H|MYOF_ENST00000371502.4_Missense_Mutation_p.Y507H	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	507					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGCTTCCATAAAGATTCAGG	0.428																																						uc001kin.3																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1519-1521)Tat>Cat		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							136	125	128					10																	95148849		1840	4087	5927	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95148849A>G	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1519T>C	10.37:g.95148849A>G	ENSP00000352208:p.Tyr507His					MYOF_uc001kio.3_Missense_Mutation_p.Y494H	p.Y507H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			17	1642	-			507					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.1519T>C	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554290	0.65425	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.92858	-3.12;-3.0;-3.0;-3.03	5.11	5.11	0.69529	.	0.062767	0.64402	D	0.000003	D	0.96131	0.8739	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.96064	0.9041	10	0.46703	T	0.11	-14.6802	15.0725	0.72049	1.0:0.0:0.0:0.0	.	494;507	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	H	494;507;507;507	ENSP00000351094:Y494H;ENSP00000352208:Y507H;ENSP00000360556:Y507H;ENSP00000360557:Y507H	ENSP00000351094:Y494H	Y	-	1	0	MYOF	95138839	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	9.139000	0.94554	2.138000	0.66242	0.460000	0.39030	TAT		0.428	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		G	95148849	A	G	95148849	3	3	167	1	0	0	0	0	1	0	0	0	10089	362	13	4	4814	4	MYOF	10	95148849	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		95148849	40385898	45	11852											
MKI67	4288	broad.mit.edu	37	chr10	129906302	129906302	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatacttctcttgggtcGttgctttgtgcttgttgggg	2	18	13	8	1	1	1	0	1	1	0	3	1	1	1	1	3	3	4	1	3	1	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:129906302G>A	ENST00000368654.3	-	13	4177	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.R908*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGTCGTTGCTTTGTG	0.507																																						uc001lke.3																			0		p.R1268Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3802-3804)Cga>Tga		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							219	210	213					10																	129906302		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906302G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3802C>T	10.37:g.129906302G>A	ENSP00000357643:p.Arg1268*					MKI67_uc001lkf.3_Nonsense_Mutation_p.R908*|MKI67_uc009yav.1_Nonsense_Mutation_p.R843*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R418*	p.R1268*	NM_002417	NP_002408	P46013	KI67_HUMAN			12	3997	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1268			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.3802C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	43	9.909027	0.99293	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.04	-0.0605	0.13788	.	1.619920	0.04367	N	0.358471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	2.2766	0.04103	0.2902:0.0:0.4632:0.2466	.	.	.	.	X	1268;908;1267	.	ENSP00000357642:R908X	R	-	1	2	MKI67	129796292	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.324000	0.07986	0.118000	0.18165	0.462000	0.41574	CGA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129906302	G	A	129906302	4	1	167	1	0	0	0	0	0	1	0	0	9598	1153	40	1	5980	1	MKI67	10	129906302	Nonsense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	34757453	129906302	5628445	46	11853											
F2	2147	broad.mit.edu	37	chr11	46750326	46750326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctgatgaagctgaagaagCctgttgccttcagtgactac	10	10	10	11	0	1	5	1	4	0	1	1	5	1	5	3	0	4	2	3	0	4	3	rs377462682		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:46750326C>G	ENST00000311907.5	+	11	1467	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	471	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.P471S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.4																			1	Substitution - Missense(1)	p.P471S(2)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1411-1413)Cct>Gct		Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	C	ALA/PRO	1,4401	2.1+/-5.4	0,1,2200	122	105	111		1411	5.1	0.6	11		111	0,8598		0,0,4299	no	missense	F2	NM_000506.3	27	0,1,6499	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	471/623	46750326	1,12999	2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46750326C>G	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1411C>G	11.37:g.46750326C>G	ENSP00000308541:p.Pro471Ala						p.P471A	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	10	1454	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	471			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1411C>G	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291316	0.59976	2.27E-4	0.0	ENSG00000180210	ENST00000311907	D	0.94650	-3.48	5.97	5.05	0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97501	1.0060	10	0.87932	D	0	.	17.208	0.86923	0.0:0.8739:0.1261:0.0	.	471	P00734	THRB_HUMAN	A	471	ENSP00000308541:P471A	ENSP00000308541:P471A	P	+	1	0	F2	46706902	1.000000	0.71417	0.615000	0.29064	0.232000	0.25224	5.917000	0.69989	1.511000	0.48818	-0.175000	0.13238	CCT		0.547	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			G	46750326	C	G	46750326	3	3	167	1	0	0	0	0	1	0	0	0	5342	739	26	5	1453	5	F2	11	46750326	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		46750326	88256190	47	11854											
FAM111A	63901	broad.mit.edu	37	chr11	58919918	58919918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagccagttgatgaattAgaaggcagatactttcaggt	13	10	10	8	0	1	4	1	2	0	2	1	4	1	4	2	2	2	2	2	2	4	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:58919918A>G	ENST00000528737.1	+	5	3595	c.777A>G	c.(775-777)ttA>ttG	p.L259L	FAM111A_ENST00000361723.3_Silent_p.L259L|FAM111A_ENST00000420244.1_Silent_p.L259L|FAM111A_ENST00000533703.1_Silent_p.L259L|FAM111A_ENST00000531147.1_Silent_p.L259L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	259					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTGATGAATTAGAAGGCAGAT	0.423																																						uc010rkp.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(775-777)ttA>ttG		Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.							88	88	88					11																	58919918		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919918A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.777A>G	11.37:g.58919918A>G						FAM111A_uc010rkq.2_Silent_p.L259L|FAM111A_uc010rkr.2_Silent_p.L259L|FAM111A_uc001nno.3_Silent_p.L259L|FAM111A_uc001nnp.3_Silent_p.L259L|FAM111A_uc001nnq.3_Silent_p.L259L	p.L259L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN			4	1004	+		all_epithelial(135;0.139)	259					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.777A>G	CCDS7973.1																																																																																				0.423	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		G	58919918	A	G	58919918	2	3	167	1	0	0	0	0	0	0	0	1	5399	417	15	4		4	FAM111A	11	58919918	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	12169592	58919918	76086598	48	11855											
NRXN2	9379	broad.mit.edu	37	chr11	64375399	64375399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccccagagggcgggcGgcgcgcggcgggcgggggca	3	0	24	14	8	0	1	0	0	0	1	0	1	0	1	2	8	0	1	2	8	0	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:64375399G>A	ENST00000377551.1	-	22	4619	c.4408C>T	c.(4408-4410)Cgc>Tgc	p.R1470C	NRXN2_ENST00000409571.1_Missense_Mutation_p.R1463C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R1400C|NRXN2_ENST00000265459.6_Missense_Mutation_p.R1470C|NRXN2_ENST00000301894.2_Missense_Mutation_p.R424C			Q9P2S2	NRX2A_HUMAN	neurexin 2	1470					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAgggcgggcggcgcgcggcg	0.751																																						uc021qkw.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(4408-4410)Cgc>Tgc		Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.							3	4	4					11																	64375399		1764	3525	5289	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64375399G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4408C>T	11.37:g.64375399G>A	ENSP00000366774:p.Arg1470Cys					NRXN2_uc021qkx.1_Missense_Mutation_p.R1400C|NRXN2_uc001oas.3_Missense_Mutation_p.R1400C|NRXN2_uc001oao.3_Missense_Mutation_p.R110C|NRXN2_uc001oap.3_Missense_Mutation_p.R424C|NRXN2_uc001oaq.3_Missense_Mutation_p.R1137C	p.R1470C	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN			22	4870	-			1470					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.4408C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746904	0.30955	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.61742	0.59;0.08;0.14;0.08;0.19	3.72	2.79	0.32731	.	.	.	.	.	T	0.53334	0.1790	L	0.36672	1.1	0.48975	D	0.999739	D;D;P;B	0.76494	0.999;0.992;0.883;0.007	P;P;B;B	0.51550	0.648;0.673;0.2;0.004	T	0.52260	-0.8599	9	0.56958	D	0.05	.	8.7787	0.34778	0.0:0.0:0.7741:0.2259	.	1400;1470;1216;424	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	C	424;1470;1400;1470;1400;1463	ENSP00000301894:R424C;ENSP00000366774:R1470C;ENSP00000366782:R1400C;ENSP00000265459:R1470C;ENSP00000386416:R1463C	ENSP00000265459:R1470C	R	-	1	0	NRXN2	64131975	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	2.559000	0.45888	0.674000	0.31244	0.313000	0.20887	CGC		0.751	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64375399	G	A	64375399	3	1	167	1	0	0	0	0	1	0	0	0	10666	1116	39	2	734	2	NRXN2	11	64375399	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	5455481	64375399	70631117	49	11856											
IL10RA	3587	broad.mit.edu	37	chr11	117860220	117860220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcctatgaccttacCgcagtgaccttggacctgta	8	11	8	14	1	0	2	0	2	0	0	1	3	1	3	6	1	1	2	6	1	3	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:117860220C>T	ENST00000227752.3	+	3	372	c.252C>T	c.(250-252)acC>acT	p.T84T	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Silent_p.T64T	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	84			T -> I (in IBD28). {ECO:0000269|PubMed:19890111}.		cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATGACCTTACCGCAGTGACCT	0.577																																						uc001prv.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(250-252)acC>acT		Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.							160	129	139					11																	117860220		2200	4296	6496	SO:0001819	synonymous_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117860220C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.252C>T	11.37:g.117860220C>T						IL10RA_uc010rxl.2_Silent_p.T64T|IL10RA_uc010rxm.2_Silent_p.T64T|IL10RA_uc010rxn.2_Intron|IL10RA_uc001prw.3_5'UTR	p.T84T	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	2	329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	84		T -> I (in IBD28).			A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	c.252C>T	CCDS8388.1																																																																																				0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			T	117860220	C	T	117860220	2	4	167	1	0	0	0	0	0	0	0	1	7620	639	23	2		2	IL10RA	11	117860220	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	53484821	117860220	17146296	50	11857											
APLP2	334	broad.mit.edu	37	chr11	129999030	129999030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacctggcccgagtggaaGctatgctgaatgaccgccgt	8	7	12	14	3	0	2	0	2	0	0	0	4	0	3	5	2	2	2	5	2	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:129999030G>A	ENST00000263574.5	+	10	1456	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	APLP2_ENST00000528499.1_Missense_Mutation_p.A406T|APLP2_ENST00000543137.1_Missense_Mutation_p.A369T|APLP2_ENST00000278756.7_Missense_Mutation_p.A472T|APLP2_ENST00000338167.5_Missense_Mutation_p.A462T|APLP2_ENST00000345598.5_Missense_Mutation_p.A233T|APLP2_ENST00000539648.1_Missense_Mutation_p.A250T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	462					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGAGTGGAAGCTATGCTGAA	0.582																																						uc010sby.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1384-1386)Gct>Act		Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.							102	91	94					11																	129999030		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999030G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1384G>A	11.37:g.129999030G>A	ENSP00000263574:p.Ala462Thr					APLP2_uc001qfp.3_Missense_Mutation_p.A462T|APLP2_uc001qfq.3_Missense_Mutation_p.A406T|APLP2_uc010sbz.2_Missense_Mutation_p.A250T|APLP2_uc001qfr.3_Missense_Mutation_p.A228T|APLP2_uc001qfs.3_Missense_Mutation_p.A233T|APLP2_uc021qsg.1_Missense_Mutation_p.A472T|APLP2_uc001qfv.3_Missense_Mutation_p.A353T	p.A462T	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	9	1541	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	462					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1384G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420318	0.96111	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.71	5.71	0.89125	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.975;0.999;0.969;0.985;0.999;0.964;0.996	T	0.75439	-0.3317	10	0.48119	T	0.1	-24.4112	18.8518	0.92235	0.0:0.0:1.0:0.0	.	250;462;406;233;400;406;462	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	T	406;250;462;233;462;472;369	ENSP00000435914:A406T;ENSP00000443728:A250T;ENSP00000263574:A462T;ENSP00000263575:A233T;ENSP00000345444:A462T;ENSP00000278756:A472T;ENSP00000444122:A369T	ENSP00000263574:A462T	A	+	1	0	APLP2	129504240	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	9.476000	0.97823	2.694000	0.91930	0.655000	0.94253	GCT		0.582	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		A	129999030	G	A	129999030	3	1	167	1	0	0	0	0	1	0	0	0	779	971	34	3	1422	3	APLP2	11	129999030	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	12138810	129999030	5007486	51	11858											
TAS2R30	259293	broad.mit.edu	37	chr12	11286246	11286246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtttacacagagaacAgattaacagcagaaaagata	20	7	9	5	0	0	5	0	0	0	5	0	7	0	5	0	0	4	2	0	0	6	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:11286246A>G	ENST00000539585.1	-	1	997	c.598T>C	c.(598-600)Tgt>Cgt	p.C200R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	200					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CACAGAGAACAGATTAACAGC	0.428																																						uc009zhs.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(598-600)Tgt>Cgt		Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.							204	220	215					12																	11286246		2203	4300	6503	SO:0001583	missense	259293							g.chr12:11286246A>G	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.598T>C	12.37:g.11286246A>G	ENSP00000444736:p.Cys200Arg					PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.C200R	NM_001097643	NP_001091112					0	598	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.598T>C	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778295	0.31502	.	.	ENSG00000256188	ENST00000539585	T	0.34072	1.38	2.6	-2.22	0.06952	.	.	.	.	.	T	0.34948	0.0915	L	0.55481	1.735	0.09310	N	1	P	0.44195	0.828	P	0.50860	0.652	T	0.24404	-1.0161	9	0.46703	T	0.11	.	0.3903	0.00409	0.4173:0.2226:0.1428:0.2172	.	200	P59541	T2R30_HUMAN	R	200	ENSP00000444736:C200R	ENSP00000444736:C200R	C	-	1	0	TAS2R30	11177513	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.004000	0.13106	-0.604000	0.05760	0.260000	0.18958	TGT		0.428	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		G	11286246	A	G	11286246	3	3	167	1	0	0	0	0	1	0	0	0	15570	188	7	4	365	4	TAS2R30	12	11286246	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		11286246	122565649	52	11859											
SOAT2	8435	broad.mit.edu	37	chr12	53516999	53516999	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcttccttgtcattggAggtgagctggtctctgtgcc	5	15	11	10	0	3	1	1	1	2	0	5	2	4	2	2	3	3	1	2	3	1	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:53516999A>G	ENST00000301466.3	+	13	1431	c.1371A>G	c.(1369-1371)ggA>ggG	p.G457G		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	457					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TTGTCATTGGAGGTGAGCTGG	0.582																																						uc001sbv.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.e13+1		Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.							197	155	170					12																	53516999		2203	4300	6503	SO:0001630	splice_region_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53516999A>G	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1372+1A>G	12.37:g.53516999A>G						SOAT2_uc009zms.3_Splice_Site	p.G458_splice	NM_003578	NP_003569	O75908	SOAT2_HUMAN			13	1460	+			458					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.1372_splice	CCDS8847.1																																																																																				0.582	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1		Silent	G	53516999	A	G	53516999	5	3	167	1	0	0	0	0	0	0	1	0	14911	318	11	4	1421	4	SOAT2	12	53516999	Splice_Site	SNP	A	TCGA-19-5954-01A-11D-1696-08	42230753	53516999	80334896	53	11860											
CLYBL	171425	broad.mit.edu	37	chr13	100425088	100425088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcttgcaggaaagcgtctCtagcagctgatatccccaga	10	10	10	11	1	2	2	0	1	2	1	4	3	3	3	2	1	4	3	2	1	3	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr13:100425088C>G	ENST00000376360.1	+	2	100	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CLYBL_ENST00000339105.4_Missense_Mutation_p.L25V|CLYBL_ENST00000376354.1_Missense_Mutation_p.L25V|CLYBL_ENST00000376355.3_Missense_Mutation_p.L25V|CLYBL_ENST00000444838.2_Missense_Mutation_p.L25V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	25						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAGCGTCTCTAGCAGCTGA	0.388																																						uc001vok.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(73-75)Cta>Gta		Homo sapiens citrate lyase beta like (CLYBL), mRNA.							138	131	134					13																	100425088		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425088C>G	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.73C>G	13.37:g.100425088C>G	ENSP00000365538:p.Leu25Val					CLYBL_uc010tix.2_Missense_Mutation_p.L25V|CLYBL_uc010tiy.2_Missense_Mutation_p.L25V	p.L25V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			1	104	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		25					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.73C>G	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	6.086	0.384200	0.11524	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.23754	1.89;1.93;1.9;1.89;1.93	5.0	3.2	0.36748	.	0.968199	0.08537	N	0.931196	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	B;B;B	0.26809	0.131;0.16;0.043	B;B;B	0.33690	0.027;0.168;0.016	T	0.37596	-0.9699	10	0.30078	T	0.28	.	8.2235	0.31556	0.0:0.7575:0.1587:0.0838	.	25;25;25	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	V	25	ENSP00000365533:L25V;ENSP00000365538:L25V;ENSP00000404768:L25V;ENSP00000365532:L25V;ENSP00000342991:L25V	ENSP00000342991:L25V	L	+	1	2	CLYBL	99223089	0.843000	0.29541	0.001000	0.08648	0.068000	0.16541	1.627000	0.37050	1.060000	0.40578	0.462000	0.41574	CTA		0.388	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			G	100425088	C	G	100425088	3	3	167	1	0	0	0	0	1	0	0	0	3573	912	32	5	79	5	CLYBL	13	100425088	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		100425088	14744790	54	11861											
ALDH6A1	4329	broad.mit.edu	37	chr14	74534253	74534253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattggcatctggcatgactAccccatggttcttggctccc	6	13	9	13	0	2	1	0	1	2	0	3	1	3	1	3	4	1	4	3	4	2	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:74534253A>G	ENST00000553458.1	-	8	970	c.872T>C	c.(871-873)gTa>gCa	p.V291A	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.V8A|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.V278A|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	291					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TGGCATGACTACCCCATGGTT	0.478																																						uc001xpo.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(871-873)gTa>gCa		Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						69	69	69					14																	74534253		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74534253A>G	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.872T>C	14.37:g.74534253A>G	ENSP00000450436:p.Val291Ala					C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.V278A|ALDH6A1_uc010asa.3_Missense_Mutation_p.V136A	p.V291A	NM_005589	NP_005580	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	7	971	-			291					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.872T>C	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321994	0.60634	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	D;D;D	0.91740	-2.9;-2.9;-2.9	5.93	5.93	0.95920	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.89715	3.055	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.60541	0.876;0.876	D	0.96316	0.9232	10	0.48119	T	0.1	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	278;291	B4DFS8;Q02252	.;MMSA_HUMAN	A	291;278;8	ENSP00000450436:V291A;ENSP00000342564:V278A;ENSP00000452081:V8A	ENSP00000342564:V291A	V	-	2	0	ALDH6A1	73604006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.324000	0.96373	2.270000	0.75569	0.482000	0.46254	GTA		0.478	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			G	74534253	A	G	74534253	3	3	167	1	0	0	0	0	1	0	0	0	503	391	14	4	755	4	ALDH6A1	14	74534253	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		74534253	32815287	55	11862											
LTBP2	4053	broad.mit.edu	37	chr14	75078642	75078642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgggctttggtccgcggCctcatggcgcggggcggctg	1	8	19	13	6	1	0	1	0	0	0	2	0	2	0	2	7	1	2	2	7	0	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:75078642C>T	ENST00000261978.4	-	1	392	c.6G>A	c.(4-6)agG>agA	p.R2R	LTBP2_ENST00000556690.1_Silent_p.R2R|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.2_ENST00000556652.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	2					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGTCCGCGGCCTCATGGCGC	0.756																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4-6)agG>agA		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							4	6	6					14																	75078642		1706	3653	5359	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078642C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.6G>A	14.37:g.75078642C>T							p.R2R	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	0	393	-			2					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.6G>A	CCDS9831.1																																																																																				0.756	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	75078642	C	T	75078642	2	4	167	1	0	0	0	0	0	0	0	1	9074	738	26	3		3	LTBP2	14	75078642	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	544389	75078642	32270898	56	11863											
GABRB3	2562	broad.mit.edu	37	chr15	26812728	26812728	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttaaaaatagcacatacCgagggcaactctagcagcag	16	6	8	11	1	1	0	0	0	1	0	1	1	1	0	1	1	5	4	1	1	7	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:26812728C>T	ENST00000311550.5	-	7	946	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	GABRB3_ENST00000400188.3_Splice_Site_p.G208R|GABRB3_ENST00000299267.4_Splice_Site_p.G279R|GABRB3_ENST00000541819.2_Splice_Site_p.G335R|GABRB3_ENST00000545868.1_Splice_Site_p.G194R	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	279					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.G279R(2)|p.G335R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAGCACATACCGAGGGCAACT	0.373																																						uc001zbb.3																			3	Substitution - Missense(3)	p.G279R(2)|p.G335R(1)	cervix(3)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.e8+1		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						90	81	84					15																	26812728		2203	4300	6503	SO:0001630	splice_region_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812728C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.835+1G>A	15.37:g.26812728C>T						GABRB3_uc021sgg.1_Splice_Site_p.G208_splice|GABRB3_uc021sgh.1_Splice_Site_p.G194_splice|GABRB3_uc001zaz.3_Splice_Site_p.G279_splice|GABRB3_uc001zba.3_Splice_Site_p.G279_splice	p.G335_splice	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1106	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	279					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1003_splice	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399307	0.83120	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97388	0.9987	9	.	.	.	.	19.6125	0.95613	0.0:1.0:0.0:0.0	.	335;279;279	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	R	279;335;279;208;194	ENSP00000308725:G279R;ENSP00000442408:G335R;ENSP00000299267:G279R;ENSP00000383049:G208R;ENSP00000439169:G194R	.	G	-	1	0	GABRB3	24363821	1.000000	0.71417	0.980000	0.43619	0.398000	0.30690	7.707000	0.84623	2.879000	0.98667	0.650000	0.86243	GGG		0.373	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		Missense_Mutation	T	26812728	C	T	26812728	5	4	167	1	0	0	0	0	0	0	1	0	6168	666	23	2	598	2	GABRB3	15	26812728	Splice_Site	SNP	C	TCGA-19-5954-01A-11D-1696-08		26812728	75718664	57	11864											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306465	58306465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgagttctgccactcGttgtttataaagatctaagg	9	15	8	9	1	3	2	0	1	3	1	5	2	3	2	1	1	1	3	1	1	4	6	rs374228229		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:58306465G>A	ENST00000249750.4	-	2	899	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ALDH1A2_ENST00000558231.1_Silent_p.N15N|ALDH1A2_ENST00000537372.1_Silent_p.N23N|ALDH1A2_ENST00000347587.3_Silent_p.N44N|ALDH1A2_ENST00000559517.1_5'Flank	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	44					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCTGCCACTCGTTGTTTATAA	0.453																																						uc002aex.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(130-132)aaC>aaT		Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G	,,	1,4383	2.1+/-5.4	0,1,2191	87	84	85		69,132,132	0.8	1	15		85	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2	,,	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	,,	23/498,44/519,44/481	58306465	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306465G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.132C>T	15.37:g.58306465G>A						ALDH1A2_uc010ugv.2_Silent_p.N23N|ALDH1A2_uc002aey.3_Silent_p.N44N|ALDH1A2_uc010ugw.2_Silent_p.N15N|ALDH1A2_uc002aew.3_5'Flank	p.N44N	NM_003888	NP_733798	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	1	405	-			44					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.132C>T	CCDS10163.1																																																																																				0.453	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			A	58306465	G	A	58306465	2	1	167	1	0	0	0	0	0	0	0	1	491	1136	40	1		1	ALDH1A2	15	58306465	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	31493737	58306465	44224927	58	11865											
CIB1	10519	broad.mit.edu	37	chr15	90775506	90775506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgtgcccgaagtgacGactccacgctccgctgctcc	6	8	10	17	4	0	1	0	1	0	0	3	3	3	1	4	0	2	4	4	0	1	1	rs369465701		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:90775506G>A	ENST00000328649.6	-	3	301	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	47					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAAGTGACGACTCCACGCT	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		18503	0		0	False		,,,				2504	0					uc002bpb.4																			0				lung(1)|prostate(1)	2						c.(139-141)tCg>tTg		Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.		G	LEU/SER	0,4398		0,0,2199	90	83	86		140	3.1	1	15		86	1,8595	1.2+/-3.3	0,1,4297	no	missense	CIB1	NM_006384.3	145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	47/192	90775506	1,12993	2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775506G>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.140C>T	15.37:g.90775506G>A	ENSP00000333873:p.Ser47Leu					GDPGP1_uc002bpc.3_5'Flank	p.S47L	NM_006384	NP_006375	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		2	302	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		47					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.140C>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534107	0.13188	0.0	1.16E-4	ENSG00000185043	ENST00000328649	T	0.08458	3.09	5.43	3.12	0.35913	EF-hand-like domain (1);	0.633514	0.17526	N	0.171072	T	0.04815	0.0130	N	0.08118	0	0.22629	N	0.998918	B	0.16396	0.017	B	0.12837	0.008	T	0.38672	-0.9650	10	0.38643	T	0.18	-9.6563	10.9453	0.47297	0.0:0.0:0.3038:0.6962	.	47	Q99828	CIB1_HUMAN	L	47	ENSP00000333873:S47L	ENSP00000333873:S47L	S	-	2	0	CIB1	88576510	0.335000	0.24748	0.981000	0.43875	0.047000	0.14425	2.168000	0.42424	0.493000	0.27837	-1.142000	0.01873	TCG		0.612	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			A	90775506	G	A	90775506	3	1	167	1	0	0	0	0	1	0	0	0	3420	1059	37	2	455	2	CIB1	15	90775506	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	32469041	90775506	11755886	59	11866											
HS3ST6	64711	broad.mit.edu	37	chr16	1962053	1962053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgtctgggcgtagtcGgagatggcccgggtcacggg	6	6	20	9	5	2	2	1	0	1	2	3	4	2	2	1	5	1	1	1	5	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:1962053G>A	ENST00000293937.3	-	2	566	c.567C>T	c.(565-567)tcC>tcT	p.S189S	HS3ST6_ENST00000443547.1_Silent_p.S158S|HS3ST6_ENST00000454677.2_Silent_p.S206S			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	189					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGGCGTAGTCGGAGATGGCCC	0.721																																						uc002cnf.3																			0				endometrium(2)|lung(2)	4						c.(472-474)tcC>tcT		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.							18	22	21					16																	1962053		2193	4297	6490	SO:0001819	synonymous_variant	64711							g.chr16:1962053G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.567C>T	16.37:g.1962053G>A						TCRBV20S1_uc021tak.1_Intron	p.S158S	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			1	474	-			158					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.474C>T																																																																																					0.721	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		A	1962053	G	A	1962053	2	1	167	1	0	0	0	0	0	0	0	1	7369	1103	39	2		2	HS3ST6	16	1962053	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		1962053	88392700	60	11867											
GDPD3	79153	broad.mit.edu	37	chr16	30124034	30124036	+	In_Frame_Del	DEL	TCA	TCA	-																															ccgactggcggcacaggttcTcatcatgtgacaccaccacc																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:30124034_30124036delTCA	ENST00000406256.3	-	3	638_640	c.261_263delTGA	c.(259-264)gatgag>gag	p.D87del	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	87	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCACAGGTTCTCATCATGTGACA	0.645											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(259-264)gatgag>gag		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.																																				SO:0001651	inframe_deletion	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124034_30124036delTCA	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.261_263delTGA	16.37:g.30124037_30124039delTCA	ENSP00000384363:p.Asp87del		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_In_Frame_Del_p.D25del|NR_027081_uc010vei.1_5'Flank	p.D87del	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			2	340_342	-			87			GDPD.		Q9H652	In_Frame_Del	DEL	ENST00000406256.3	37	c.261_263delTGA	CCDS10671.2																																																																																				0.645	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		-	30124036	TCA	-	30124034	7	5	167	1	0	1	0	1	0	0	0	0	6325	1551	54	0	725	0	GDPD3	16	30124034	In_Frame_Del	DEL	TCA	TCGA-19-5954-01A-11D-1696-08	28161981	30124034	60230719	61	11868											
CHD9	80205	broad.mit.edu	37	chr16	53308187	53308187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttattggaaatgagtgtcAgaaagtatttgatggagttg	13	14	13	1	0	1	3	1	2	0	1	1	5	1	5	0	2	0	3	0	2	4	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:53308187A>T	ENST00000398510.3	+	23	5027	c.4940A>T	c.(4939-4941)cAg>cTg	p.Q1647L	CHD9_ENST00000566029.1_Missense_Mutation_p.Q1647L|CHD9_ENST00000564845.1_Missense_Mutation_p.Q1647L|CHD9_ENST00000447540.1_Missense_Mutation_p.Q1647L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1647					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATGAGTGTCAGAAAGTATTT	0.348																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(4939-4941)cAg>cTg		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							129	110	116					16																	53308187		1836	4097	5933	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53308187A>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4940A>T	16.37:g.53308187A>T	ENSP00000381522:p.Gln1647Leu					CHD9_uc002egy.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.3_Missense_Mutation_p.Q761L|CHD9_uc002ehg.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.3_Missense_Mutation_p.Q15L	p.Q1647L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			22	5104	+		all_cancers(37;0.0212)	1647					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4940A>T		.	.	.	.	.	.	.	.	.	.	A	17.99	3.522859	0.64747	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.89415	-2.51;-2.51	5.6	5.6	0.85130	.	0.000000	0.53938	D	0.000051	D	0.86573	0.5965	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.33694	0.421;0.029;0.281;0.403	B;B;B;B	0.33042	0.075;0.039;0.075;0.157	D	0.85158	0.0990	10	0.36615	T	0.2	-8.3297	15.4445	0.75220	1.0:0.0:0.0:0.0	.	15;1647;1647;1647	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	1647;1647;15	ENSP00000396345:Q1647L;ENSP00000381522:Q1647L	ENSP00000381522:Q1647L	Q	+	2	0	CHD9	51865688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.136000	0.66102	0.460000	0.39030	CAG		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		T	53308187	A	T	53308187	3	4	167	1	0	0	0	0	1	0	0	0	3332	188	7	5	5030	5	CHD9	16	53308187	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	23184153	53308187	37046566	62	11869											
MFSD6L	162387	broad.mit.edu	37	chr17	8702398	8702398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggaagagcttggccaccCccagcgccctgctgatgtcc	6	7	13	15	1	0	2	0	1	0	1	1	3	1	3	5	3	3	2	5	3	1	1	rs551590102		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:8702398C>A	ENST00000329805.4	-	1	269	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	14						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTTGGCCACCCCCAGCGCCCT	0.726																																						uc002glp.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(40-42)gGg>gTg		Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.							21	23	22					17																	8702398		2198	4288	6486	SO:0001583	missense	162387					integral to membrane		g.chr17:8702398C>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.41G>T	17.37:g.8702398C>A	ENSP00000330051:p.Gly14Val						p.G14V	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			0	270	-			14					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.41G>T	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578458	0.28180	.	.	ENSG00000185156	ENST00000329805	T	0.80033	-1.33	4.37	-0.0586	0.13796	Major facilitator superfamily domain, general substrate transporter (1);	1.522090	0.03919	N	0.283319	T	0.60090	0.2242	N	0.14661	0.345	0.24145	N	0.995711	B	0.30763	0.294	B	0.22152	0.038	T	0.51364	-0.8715	10	0.24483	T	0.36	-0.0598	1.6585	0.02786	0.1387:0.3263:0.3322:0.2028	.	14	Q8IWD5	MFS6L_HUMAN	V	14	ENSP00000330051:G14V	ENSP00000330051:G14V	G	-	2	0	MFSD6L	8643123	0.053000	0.20554	0.988000	0.46212	0.791000	0.44710	1.547000	0.36190	0.475000	0.27415	0.585000	0.79938	GGG		0.726	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		A	8702398	C	A	8702398	3	1	167	1	0	0	0	0	1	0	0	0	9536	623	22	5	1723	5	MFSD6L	17	8702398	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		8702398	72492812	63	11870											
SREBF1	6720	broad.mit.edu	37	chr17	17721038	17721038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagactgggctgtcaGgctccgagtcactgccactg	8	8	11	14	1	3	1	3	0	0	1	4	2	4	1	3	2	1	2	3	2	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:17721038G>T	ENST00000261646.5	-	7	1560	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	SREBF1_ENST00000435530.2_Missense_Mutation_p.P459H|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.P489H|SREBF1_ENST00000395757.1_Missense_Mutation_p.P205H|SREBF1_ENST00000338854.5_Missense_Mutation_p.P459H	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	459	Gly/Pro/Ser-rich.|Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGGGCTGTCAGGCTCCGAGTC	0.657																																						uc002gru.2																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1375-1377)cCt>cAt		Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.							45	35	38					17																	17721038		2203	4297	6500	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721038G>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1376C>A	17.37:g.17721038G>T	ENSP00000261646:p.Pro459His					SREBF1_uc002grp.2_Missense_Mutation_p.L29M|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.P205H|SREBF1_uc002grs.2_Missense_Mutation_p.P435H|SREBF1_uc002grt.2_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	p.P459H	NM_004176	NP_004167	P36956	SRBP1_HUMAN			6	1570	-			459			Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1376C>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.494526|4.494526	0.85069|0.85069	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395756|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;D	.|0.96651	.|0.15;0.19;0.2;0.72;-4.08	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97983|0.97983	0.9336|0.9336	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P|D;D;D;D	0.46220|0.89917	0.874|1.0;1.0;1.0;1.0	P|D;D;D;D	0.48141|0.97110	0.568|0.998;0.998;0.999;1.0	D|D	0.99129|0.99129	1.0852|1.0852	8|10	0.87932|0.87932	D|D	0|0	-17.0705|-17.0705	17.5399|17.5399	0.87844|0.87844	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	29|459;435;459;489	A8MTU8|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	M|H	29|459;489;459;205;296;385;459	.|ENSP00000345822:P459H;ENSP00000348069:P489H;ENSP00000261646:P459H;ENSP00000379106:P205H;ENSP00000413389:P459H	ENSP00000379105:L29M|ENSP00000261646:P459H	L|P	-|-	1|2	2|0	SREBF1|SREBF1	17661763|17661763	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.640000|0.640000	0.38277|0.38277	9.593000|9.593000	0.98250|0.98250	2.250000|2.250000	0.74265|0.74265	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.657	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		T	17721038	G	T	17721038	3	4	167	1	0	0	0	0	1	0	0	0	15140	1000	35	5	2119	5	SREBF1	17	17721038	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	9018640	17721038	63474172	64	11871											
RGS9	8787	broad.mit.edu	37	chr17	63221294	63221294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccctcacccatcagaGtggccttggagagctcatcg	7	9	10	15	1	4	2	3	0	1	2	5	3	4	2	4	2	2	1	4	2	0	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:63221294G>A	ENST00000262406.9	+	18	1649	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	RGS9_ENST00000443584.3_Missense_Mutation_p.V525M|RGS9_ENST00000449996.3_Missense_Mutation_p.V525M	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	528				RVALE -> LVVLD (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACCCATCAGAGTGGCCTTGGA	0.677																																						uc002jfe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1582-1584)Gtg>Atg		Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.							95	108	104					17																	63221294		2067	4202	6269	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221294G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1582G>A	17.37:g.63221294G>A	ENSP00000262406:p.Val528Met					RGS9_uc010dem.3_Missense_Mutation_p.V525M|RGS9_uc002jfd.3_Missense_Mutation_p.V525M|RGS9_uc002jfg.3_Missense_Mutation_p.V299M	p.V528M	NM_003835	NP_003826	O75916	RGS9_HUMAN			17	1785	+			528	RVALE -> LVVLD (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1582G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894071	0.33442	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.36878	1.24;1.23	4.56	3.59	0.41128	.	0.214011	0.40469	N	0.001093	T	0.30727	0.0774	L	0.49350	1.555	0.30894	N	0.730018	B;B;B	0.26195	0.001;0.089;0.144	B;B;B	0.26094	0.003;0.03;0.066	T	0.29671	-1.0004	10	0.42905	T	0.14	.	8.8021	0.34916	0.2287:0.0:0.7713:0.0	.	528;528;525	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	M	528;525	ENSP00000262406:V528M;ENSP00000396329:V525M	ENSP00000262406:V528M	V	+	1	0	RGS9	60651756	0.956000	0.32656	0.318000	0.25279	0.968000	0.65278	1.425000	0.34859	1.217000	0.43442	0.561000	0.74099	GTG		0.677	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		A	63221294	G	A	63221294	3	1	167	1	0	0	0	0	1	0	0	0	13313	1029	36	3	1707	3	RGS9	17	63221294	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	45500256	63221294	17973916	65	11872											
SERPINB2	5055	broad.mit.edu	37	chr18	61570323	61570323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaatttctcagggatgtcGgagaggaatgacctgtttct	9	12	12	8	1	2	2	1	1	2	1	4	5	2	4	2	3	0	1	2	3	2	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:61570323G>A	ENST00000299502.4	+	8	1112	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	SERPINB2_ENST00000457692.1_Silent_p.S344S	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	344					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S344S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CAGGGATGTCGGAGAGGAATG	0.498																																						uc010xeu.2																			1	Substitution - coding silent(1)	p.S344S(2)	large_intestine(1)	NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(1030-1032)tcG>tcA		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						137	111	120					18																	61570323		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570323G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1032G>A	18.37:g.61570323G>A						SERPINB2_uc002ljo.3_Silent_p.S344S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.S344S	NM_001143818	NP_002566	P05120	PAI2_HUMAN			8	1365	+		Esophageal squamous(42;0.131)	344					Q96E96	Silent	SNP	ENST00000299502.4	37	c.1032G>A	CCDS11989.1																																																																																				0.498	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		A	61570323	G	A	61570323	2	1	167	1	0	0	0	0	0	0	0	1	14101	1103	39	2		2	SERPINB2	18	61570323	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		61570323	16506925	66	11873											
ADNP2	22850	broad.mit.edu	37	chr18	77895050	77895050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatcagccagtgagacctgGtgcttcgcagaacaccacct	11	7	10	13	1	1	2	1	1	0	2	2	4	1	2	4	1	3	2	4	1	2	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:77895050G>A	ENST00000262198.4	+	4	2209	c.1754G>A	c.(1753-1755)gGt>gAt	p.G585D		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	585					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTGAGACCTGGTGCTTCGCAG	0.552																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1753-1755)gGt>gAt		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							104	99	101					18																	77895050		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895050G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1754G>A	18.37:g.77895050G>A	ENSP00000262198:p.Gly585Asp						p.G585D	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	2209	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	585					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1754G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	5.059	0.196634	0.09599	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.07	4.18	0.49190	.	0.178983	0.37348	N	0.002125	T	0.31071	0.0785	L	0.27053	0.805	0.09310	N	1	P	0.49783	0.928	P	0.45829	0.494	T	0.10870	-1.0611	8	.	.	.	-14.6276	15.1176	0.72416	0.0:0.2849:0.7151:0.0	.	585	Q6IQ32	ADNP2_HUMAN	D	585	.	.	G	+	2	0	ADNP2	75996041	0.701000	0.27806	0.038000	0.18304	0.066000	0.16364	2.503000	0.45407	1.335000	0.45486	0.650000	0.86243	GGT		0.552	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		A	77895050	G	A	77895050	3	1	167	1	0	0	0	0	1	0	0	0	324	1261	44	3	1764	3	ADNP2	18	77895050	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	16324727	77895050	182198	67	11874											
VAV1	7409	broad.mit.edu	37	chr19	6828672	6828672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgaggtcaagcgagacaacGagacactgcgacagatcacc	15	3	11	12	4	2	3	2	0	0	3	2	7	2	3	1	1	3	0	1	1	2	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:6828672G>A	ENST00000602142.1	+	12	1214	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	VAV1_ENST00000304076.2_Missense_Mutation_p.E378K|VAV1_ENST00000596764.1_Missense_Mutation_p.E346K|VAV1_ENST00000539284.1_Missense_Mutation_p.E281K|VAV1_ENST00000599806.1_Missense_Mutation_p.E323K	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	378					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGAGACAACGAGACACTGCG	0.637																																						uc002mfu.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1132-1134)Gag>Aag		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							133	132	132					19																	6828672		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828672G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1132G>A	19.37:g.6828672G>A	ENSP00000472929:p.Glu378Lys					VAV1_uc010xjh.1_Missense_Mutation_p.E346K|VAV1_uc010dva.1_Missense_Mutation_p.E378K|VAV1_uc002mfv.1_Missense_Mutation_p.E323K	p.E378K	NM_005428	NP_005419	P15498	VAV_HUMAN			11	1229	+			378					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1132G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580398	0.96565	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.74632	-0.61;-0.86	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.67145	0.991;0.979;0.996;0.996	P;B;P;P	0.57057	0.565;0.44;0.812;0.812	D	0.87905	0.2693	10	0.87932	D	0	.	16.4086	0.83699	0.0:0.0:1.0:0.0	.	281;378;323;378	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	K	378;281	ENSP00000302269:E378K;ENSP00000443242:E281K	ENSP00000302269:E378K	E	+	1	0	VAV1	6779672	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.723000	0.91458	2.484000	0.83849	0.591000	0.81541	GAG		0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			A	6828672	G	A	6828672	3	1	167	1	0	0	0	0	1	0	0	0	17128	1059	37	2	1178	2	VAV1	19	6828672	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		6828672	52300311	68	11875											
MUC16	94025	broad.mit.edu	37	chr19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcttttggggtcaagaCggtgggtgcagatggcatcc	7	9	17	8	1	1	2	1	0	0	2	2	2	2	2	1	6	1	3	1	6	1	2	rs548938808	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAAGACGGTGGGTGCA	0.567													-|||	2	0.000399361	8e-04	0	5008	,	,		18194	0		0	False		,,,				2504	0.001					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38320-38322)cGt>cAt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							66	53	57					19																	9014654		1809	4040	5849	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014654C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38321G>A	19.37:g.9014654C>T	ENSP00000381008:p.Arg12774His					MUC16_uc021uog.1_5'Flank	p.R12774H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			30	38525	-			12776	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38321G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385079	0.25031	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	3.03	-5.32	0.02722	.	.	.	.	.	T	0.20700	0.0498	L	0.37630	1.12	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.24083	-1.0170	8	0.87932	D	0	.	8.6369	0.33953	0.0:0.3055:0.0:0.6945	.	12774	B5ME49	.	H	12774	ENSP00000381008:R12774H	ENSP00000381008:R12774H	R	-	2	0	MUC16	8875654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.947000	0.00328	-1.202000	0.02655	-1.872000	0.00552	CGT		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9014654	C	T	9014654	3	4	167	1	0	0	0	0	1	0	0	0	9973	536	19	1	5418	1	MUC16	19	9014654	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	2185982	9014654	50114329	69	11876											
IL27RA	9466	broad.mit.edu	37	chr19	14150321	14150321	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctctctcctcacagcCgttccaacaaaacccagact	10	7	4	20	2	2	1	1	0	1	1	5	1	4	1	6	0	3	1	6	0	3	1	rs201645440		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:14150321C>T	ENST00000263379.2	+	3	345	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	74					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCCTCACAGCCGTTCCAACAA	0.602																																					Colon(164;1849 1896 4443 37792 47834)	uc002mxx.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.e3-1		Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.							84	73	77					19																	14150321		2203	4300	6503	SO:0001630	splice_region_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150321C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.219-1C>T	19.37:g.14150321C>T							p.Y73_splice	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			3	642	+			73					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.219_splice	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949619	0.34377	.	.	ENSG00000104998	ENST00000263379	T	0.62105	0.05	4.55	4.55	0.56014	.	0.163104	0.29080	N	0.013215	T	0.44265	0.1285	N	0.14661	0.345	0.38376	D	0.944996	D	0.53151	0.958	B	0.40534	0.332	T	0.56517	-0.7966	10	0.59425	D	0.04	-6.6586	13.0301	0.58837	0.0:1.0:0.0:0.0	.	74	Q6UWB1	I27RA_HUMAN	C	74	ENSP00000263379:R74C	ENSP00000263379:R74C	R	+	1	0	IL27RA	14011321	0.808000	0.29022	0.903000	0.35520	0.029000	0.11900	2.143000	0.42187	2.536000	0.85505	0.561000	0.74099	CGT		0.602	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	Missense_Mutation	T	14150321	C	T	14150321	5	4	167	1	0	0	0	0	0	0	1	0	7681	666	23	2	230	2	IL27RA	19	14150321	Splice_Site	SNP	C	TCGA-19-5954-01A-11D-1696-08	5135667	14150321	44978662	70	11877											
CPAMD8	27151	broad.mit.edu	37	chr19	17017818	17017818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggggctgccgggctgCggagcagggtcagcgcgtag	5	5	19	12	4	2	0	2	0	0	0	2	1	2	1	2	5	4	4	2	5	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17017818C>T	ENST00000443236.1	-	30	4143	c.4112G>A	c.(4111-4113)cGc>cAc	p.R1371H	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1324						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCGGGCTGCGGAGCAGGGT	0.667																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4111-4113)cGc>cAc		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.																																				SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17017818C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4112G>A	19.37:g.17017818C>T	ENSP00000402505:p.Arg1371His						p.R1371H	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			29	4144	-			1324					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4112G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.169|5.169	0.216840|0.216840	0.09810|0.09810	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.09|3.09	0.539|0.539	0.17156|0.17156	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.|0.384228	.|0.27023	.|N	.|0.021307	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.12156	.|0.007	T|T	0.11891|0.11891	-1.0569|-1.0569	5|9	.|0.30854	.|T	.|0.27	.|.	7.0603|7.0603	0.25121|0.25121	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1324	.|Q8IZJ3	.|CPMD8_HUMAN	T|H	1382|1371	.|.	.|ENSP00000291440:R1371H	A|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16878818|16878818	0.999000|0.999000	0.42202|0.42202	0.984000|0.984000	0.44739|0.44739	0.110000|0.110000	0.19582|0.19582	0.468000|0.468000	0.22051|0.22051	0.316000|0.316000	0.23135|0.23135	-0.274000|-0.274000	0.10170|0.10170	GCA|CGC		0.667	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17017818	C	T	17017818	3	4	167	1	0	0	0	0	1	0	0	0	3795	768	27	1	1738	1	CPAMD8	19	17017818	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	2867497	17017818	42111165	71	11878											
ABHD8	79575	broad.mit.edu	37	chr19	17411828	17411828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacctcatagcctaggcGcacaaagaagtccagctgct	12	6	8	15	1	1	1	1	0	0	1	2	1	2	1	4	1	3	3	4	1	4	2	rs371098180		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17411828G>A	ENST00000247706.3	-	2	837	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	200							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TAGCCTAGGCGCACAAAGAAG	0.642													G|||	1	0.000199681	0	0	5008	,	,		12938	0		0	False		,,,				2504	0.001				Ovarian(156;1368 2543 15275 41187)	uc002ngb.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(598-600)Cgc>Tgc		Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.							66	76	73					19																	17411828		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411828G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.598C>T	19.37:g.17411828G>A	ENSP00000247706:p.Arg200Cys						p.R200C	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			1	838	-			200					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.598C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247421	0.59103	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.68181	-0.31	5.03	3.9	0.45041	.	0.124831	0.53938	D	0.000060	T	0.72914	0.3520	M	0.64997	1.995	0.20489	N	0.999899	D	0.76494	0.999	P	0.58970	0.849	T	0.64529	-0.6386	10	0.72032	D	0.01	-33.3607	9.1372	0.36881	0.0:0.1647:0.6856:0.1497	.	200	Q96I13	ABHD8_HUMAN	C	200;146	ENSP00000247706:R200C	ENSP00000247706:R200C	R	-	1	0	ABHD8	17272828	0.995000	0.38212	1.000000	0.80357	0.944000	0.59088	1.681000	0.37618	2.352000	0.79861	0.561000	0.74099	CGC		0.642	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		A	17411828	G	A	17411828	3	1	167	1	0	0	0	0	1	0	0	0	87	1087	38	1	737	1	ABHD8	19	17411828	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	394010	17411828	41717155	72	11879											
LGALS14	56891	broad.mit.edu	37	chr19	40197279	40197279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcctgttggttcgtgcGtgataatcacagggacaccg	7	11	12	11	3	1	1	1	1	0	0	2	2	1	2	3	2	2	2	3	2	1	4	rs199912882		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:40197279G>A	ENST00000392052.3	+	2	281	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	LGALS14_ENST00000360675.3_Missense_Mutation_p.V49M	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	20	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TGGTTCGTGCGTGATAATCAC	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		22912	0		0	False		,,,				2504	0					uc002omf.3																			0		p.C48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(145-147)Gtg>Atg		Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.							278	214	235					19																	40197279		2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40197279G>A	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.58G>A	19.37:g.40197279G>A	ENSP00000375905:p.Val20Met					LGALS14_uc002omg.3_Missense_Mutation_p.V20M	p.V49M	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		2	586	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	20			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.145G>A	CCDS46073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	10.46	1.356694	0.24598	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.20598	2.06;2.06	0.906	-0.45	0.12223	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.42944	0.1225	M	0.85777	2.775	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.20207	-1.0282	9	0.87932	D	0	.	4.5174	0.11943	0.0:0.4188:0.5812:0.0	.	20;49	Q8TCE9;A8MPV8	PPL13_HUMAN;.	M	20;49	ENSP00000375905:V20M;ENSP00000353893:V49M	ENSP00000353893:V49M	V	+	1	0	LGALS14	44889119	0.030000	0.19436	0.005000	0.12908	0.021000	0.10359	-0.006000	0.12833	-0.107000	0.12088	0.313000	0.20887	GTG		0.498	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		A	40197279	G	A	40197279	3	1	167	1	0	0	0	0	1	0	0	0	8741	1145	40	1	170	1	LGALS14	19	40197279	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	22785451	40197279	18931704	73	11880											
KLK5	25818	broad.mit.edu	37	chr19	51452018	51452018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcaagcactggaggacctTagggaagtgcactgtcaaac	13	8	11	9	0	2	0	2	0	0	0	2	3	2	3	1	3	3	2	1	3	4	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:51452018T>C	ENST00000336334.3	-	5	956	c.604A>G	c.(604-606)Aag>Gag	p.K202E	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.K202E|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.K202E	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	202	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGGAGGACCTTAGGGAAGTGC	0.502																																						uc002pue.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(604-606)Aag>Gag		Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.							110	100	103					19																	51452018		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452018T>C	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.604A>G	19.37:g.51452018T>C	ENSP00000337733:p.Lys202Glu					KLK5_uc002puf.3_Missense_Mutation_p.K202E|KLK5_uc002pug.3_Missense_Mutation_p.K202E	p.K202E	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	822	-		all_neural(266;0.026)	202			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.604A>G	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	t	7.059	0.566061	0.13560	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.87966	-2.32;-2.32	4.67	-0.214	0.13161	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.240358	0.21333	U	0.076271	T	0.71576	0.3356	N	0.13168	0.305	0.09310	N	1	B	0.17852	0.024	B	0.22152	0.038	T	0.57952	-0.7722	10	0.33141	T	0.24	.	5.3646	0.16107	0.0:0.4307:0.1907:0.3786	.	202	Q9Y337	KLK5_HUMAN	E	202	ENSP00000337733:K202E;ENSP00000375685:K202E	ENSP00000337733:K202E	K	-	1	0	KLK5	56143830	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	-0.042000	0.12063	0.015000	0.14971	0.533000	0.62120	AAG		0.502	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		C	51452018	T	C	51452018	3	2	167	1	0	0	0	0	1	0	0	0	8407	1763	61	4	285	4	KLK5	19	51452018	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	11254739	51452018	7676965	74	11881											
KIR3DL1	3811	broad.mit.edu	37	chr19	55331314	55331314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggacccctcacgcctcGttggacagatccatgatggg	9	8	11	13	2	1	2	1	1	0	1	3	4	2	4	4	3	0	1	4	3	1	2	rs200785070	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55331314G>A	ENST00000391728.4	+	4	535	c.502G>A	c.(502-504)Gtt>Att	p.V168I	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V168I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V168I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V168I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V168I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V73I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	168	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTCACGCCTCGTTGGACAGAT	0.502													g|||	2	0.000399361	0	0	5008	,	,		16455	0.002		0	False		,,,				2504	0					uc002qhl.4																			0		p.V168I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(502-504)Gtt>Att		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.		G	ILE/VAL	2,4372		1,0,2186	177	164	169		502	-2.9	0	19		169	1,8383		0,1,4191	no	missense	KIR3DL1	NM_013289.2	29	1,1,6377	AA,AG,GG		0.0119,0.0457,0.0235		168/445	55331314	3,12755	2187	4192	6379	SO:0001583	missense	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55331314G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.502G>A	19.37:g.55331314G>A	ENSP00000375608:p.Val168Ile					KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.V168I|KIR3DL2_uc010esf.3_Missense_Mutation_p.V73I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V168I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V168I	p.V168I			P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	565	+			168			Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.502G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.041	-1.282695	0.01398	4.57E-4	1.19E-4	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03004	4.08;4.08;4.08;4.08;4.08;4.08	1.44	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01421	0.0046	N	0.02665	-0.54	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.005;0.004;0.001	T	0.44406	-0.9330	9	0.41790	T	0.15	.	2.9028	0.05711	0.5216:0.0:0.264:0.2143	.	168;73;168;168	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	I	168;168;168;146;168;168;73	ENSP00000384528:V168I;ENSP00000443350:V168I;ENSP00000442355:V168I;ENSP00000375608:V168I;ENSP00000326868:V168I;ENSP00000350901:V73I	ENSP00000326868:V168I	V	+	1	0	KIR3DL1	60023126	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.557000	0.05985	-1.463000	0.01904	-1.207000	0.01640	GTT		0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		A	55331314	G	A	55331314	3	1	167	1	0	0	0	0	1	0	0	0	8320	1145	40	1	516	1	KIR3DL1	19	55331314	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	3879296	55331314	3797669	75	11882											
SYT5	6861	broad.mit.edu	37	chr19	55685985	55685985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcttccgcacctttttgCcgccctgcagcaggtggacc	4	12	9	16	2	2	0	0	0	2	0	3	1	3	1	5	2	3	3	5	2	0	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55685985C>T	ENST00000354308.3	-	8	1229	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SYT5_ENST00000537500.1_Missense_Mutation_p.G287D|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Missense_Mutation_p.G283D	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	287	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G287D(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTTTTGCCGCCCTGCAG	0.517																																						uc002qjm.1																			1	Substitution - Missense(1)	p.G287D(2)	large_intestine(1)	kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(859-861)gGc>gAc		Homo sapiens synaptotagmin V (SYT5), mRNA.							158	145	149					19																	55685985		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55685985C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.860G>A	19.37:g.55685985C>T	ENSP00000346265:p.Gly287Asp					SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	p.G287D	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1920	-			287			C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.860G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325151	0.81580	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.72394	-0.65;-0.65	3.42	3.42	0.39159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	L	0.48362	1.52	0.51233	D	0.999911	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.70016	0.967;0.919;0.967	T	0.76127	-0.3073	10	0.34782	T	0.22	.	14.7937	0.69863	0.0:1.0:0.0:0.0	.	283;286;287	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	D	287;287;283	ENSP00000442896:G287D;ENSP00000346265:G287D	ENSP00000346265:G287D	G	-	2	0	SYT5	60377797	0.823000	0.29233	0.962000	0.40283	0.878000	0.50629	3.079000	0.50104	2.220000	0.72140	0.561000	0.74099	GGC		0.517	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		T	55685985	C	T	55685985	3	4	167	1	0	0	0	0	1	0	0	0	15474	739	26	3	308	3	SYT5	19	55685985	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	354671	55685985	3442998	76	11883											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565136	58565136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaccagaagacccatcGcgaggaagggccctttccgt	10	5	12	14	4	0	2	0	0	0	2	2	5	1	3	4	2	1	1	4	2	2	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:58565136G>A	ENST00000282326.1	+	6	1191	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGACCCATCGCGAGGAAGGG	0.647																																						uc002qrc.1																			0		p.R315C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(943-945)cGc>cAc		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.							70	63	65					19																	58565136		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565136G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.944G>A	19.37:g.58565136G>A	ENSP00000282326:p.Arg315His						p.R315H	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	1191	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	315					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.944G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328390	0.24080	.	.	ENSG00000152467	ENST00000282326	T	0.16073	2.37	1.22	-2.44	0.06502	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	N	0.21324	0.655	0.09310	N	1	D	0.57257	0.979	B	0.43838	0.433	T	0.09975	-1.0650	9	0.72032	D	0.01	.	0.8802	0.01232	0.2068:0.3794:0.201:0.2127	.	315	Q8NBB4	ZSCA1_HUMAN	H	315	ENSP00000282326:R315H	ENSP00000282326:R315H	R	+	2	0	ZSCAN1	63256948	0.000000	0.05858	0.000000	0.03702	0.601000	0.36947	-2.672000	0.00843	-1.305000	0.02327	0.313000	0.20887	CGC		0.647	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		A	58565136	G	A	58565136	3	1	167	1	0	0	0	0	1	0	0	0	18223	1087	38	1	958	1	ZSCAN1	19	58565136	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	2879151	58565136	563847	77	11884											
EMILIN3	90187	broad.mit.edu	37	chr20	39990117	39990119	+	In_Frame_Del	DEL	CCT	CCT	-																															gcccagcctcctgcacgcacCctccacttgtgccacccgct																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr20:39990117_39990119delCCT	ENST00000332312.3	-	4	2282_2284	c.2090_2092delAGG	c.(2089-2094)gagggt>ggt	p.E697del		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	697						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGCACGCACCCTCCACTTGTGC	0.665																																						uc002xjy.1																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(2089-2094)gagggt>ggt		Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.																																				SO:0001651	inframe_deletion	90187					proteinaceous extracellular matrix		g.chr20:39990117_39990119delCCT	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2090_2092delAGG	20.37:g.39990117_39990119delCCT	ENSP00000332806:p.Glu697del						p.E697del	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			3	2314_2316	-		Myeloproliferative disorder(115;0.00425)	697					Q495S5|Q495S6|Q495S7|Q76KT4	In_Frame_Del	DEL	ENST00000332312.3	37	c.2090_2092delAGG	CCDS13316.1																																																																																				0.665	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		-	39990119	CCT	-	39990117	7	5	167	1	0	1	0	1	0	0	0	0	5095	623	22	0	212	0	EMILIN3	20	39990117	In_Frame_Del	DEL	CCT	TCGA-19-5954-01A-11D-1696-08		39990117	23035403	78	11885											
ERG	2078	broad.mit.edu	37	chr21	39795376	39795376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgttcgtggtcatgtttgggGgtggcatgtgcttctcctcc	2	15	14	10	2	2	0	1	0	1	0	5	0	3	0	2	4	1	4	2	4	0	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:39795376G>A	ENST00000417133.2	-	5	550	c.365C>T	c.(364-366)cCc>cTc	p.P122L	ERG_ENST00000429727.2_Missense_Mutation_p.P115L|ERG_ENST00000398910.1_Missense_Mutation_p.P122L|ERG_ENST00000442448.1_Missense_Mutation_p.P122L|ERG_ENST00000398911.1_Missense_Mutation_p.P122L|ERG_ENST00000288319.7_Missense_Mutation_p.P115L|ERG_ENST00000398905.1_Missense_Mutation_p.P115L|ERG_ENST00000398897.1_Missense_Mutation_p.P23L|ERG_ENST00000398919.2_Missense_Mutation_p.P122L|ERG_ENST00000398907.1_Missense_Mutation_p.P115L|ERG_ENST00000453032.2_Missense_Mutation_p.P23L	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	140	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CATGTTTGGGGGTGGCATGTG	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.3				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(364-366)cCc>cTc		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.							249	158	189					21																	39795376		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795376G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.365C>T	21.37:g.39795376G>A	ENSP00000414150:p.Pro122Leu					ERG_uc021wjd.1_Missense_Mutation_p.P122L|ERG_uc002yxa.3_Missense_Mutation_p.P115L|ERG_uc011aek.2_Missense_Mutation_p.P23L|ERG_uc010gnv.3_Missense_Mutation_p.P23L|ERG_uc010gnx.3_Missense_Mutation_p.P122L|ERG_uc011ael.2_Missense_Mutation_p.P122L|ERG_uc002yxb.3_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.4_Missense_Mutation_p.P122L	p.P122L	NM_001243428	NP_001230357	P11308	ERG_HUMAN			4	660	-		Prostate(19;3.6e-06)	122			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.365C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148603	0.94603	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.05	5.05	0.67936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.165045	0.53938	D	0.000049	T	0.60830	0.2299	M	0.83118	2.625	0.80722	D	1	D;P;P;D;D;P	0.63046	0.992;0.94;0.94;0.983;0.984;0.956	P;D;D;D;D;P	0.72982	0.866;0.944;0.91;0.979;0.944;0.815	T	0.67166	-0.5739	10	0.87932	D	0	.	18.7902	0.91971	0.0:0.0:1.0:0.0	.	115;122;115;122;122;115	B4E3C5;P11308;B5MDW0;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.;.	L	115;115;115;23;122;122;122;122;23;122;115	ENSP00000381877:P115L;ENSP00000381879:P115L;ENSP00000288319:P115L;ENSP00000381871:P23L;ENSP00000381882:P122L;ENSP00000414150:P122L;ENSP00000381881:P122L;ENSP00000394694:P122L;ENSP00000396268:P23L;ENSP00000381891:P122L	ENSP00000288319:P115L	P	-	2	0	ERG	38717246	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.420000	0.97426	2.503000	0.84419	0.561000	0.74099	CCC		0.592	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39795376	G	A	39795376	3	1	167	1	0	0	0	0	1	0	0	0	5222	1232	43	3	1127	3	ERG	21	39795376	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		39795376	8334519	79	11886											
POFUT2	23275	broad.mit.edu	37	chr21	46689872	46689872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtctgtgaccccagatGaaatcttttcttctcaggtg	7	15	8	11	0	4	3	1	2	4	1	6	3	5	3	3	1	0	0	3	1	1	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:46689872G>A	ENST00000349485.5	-	7	920	c.894C>T	c.(892-894)ttC>ttT	p.F298F	POFUT2_ENST00000331343.7_Silent_p.F298F|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	298					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GACCCCAGATGAAATCTTTTC	0.572																																						uc002zhc.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(892-894)ttC>ttT		Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.							68	70	69					21																	46689872		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46689872G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.894C>T	21.37:g.46689872G>A						POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.F298F	p.F298F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	6	919	-			298					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.894C>T	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	g	0.647	-0.811186	0.02798	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.67	-2.52	0.06346	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53753	-0.8394	4	.	.	.	-15.9561	10.9992	0.47596	0.4531:0.0:0.5469:0.0	.	.	.	.	Y	221	.	.	H	-	1	0	POFUT2	45514300	1.000000	0.71417	0.985000	0.45067	0.006000	0.05464	1.157000	0.31724	-0.349000	0.08274	-1.892000	0.00534	CAT		0.572	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		A	46689872	G	A	46689872	2	1	167	1	0	0	0	0	0	0	0	1	12184	1281	45	3		3	POFUT2	21	46689872	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	6894496	46689872	1440023	80	11887											
MXRA5	25878	broad.mit.edu	37	chrX	3242355	3242355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatattgtttgagaatactgGgtgtagtaggaaagtagcac	13	12	13	3	0	0	1	0	1	0	1	0	4	0	2	0	2	2	5	0	2	7	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:3242355G>T	ENST00000217939.6	-	5	1525	c.1371C>A	c.(1369-1371)acC>acA	p.T457T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	457						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGAATACTGGGTGTAGTAGG	0.488																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1369-1371)acC>acA		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							124	121	122					X																	3242355		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3242355G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1371C>A	X.37:g.3242355G>T							p.T457T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	1528	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	457					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1371C>A	CCDS14124.1																																																																																				0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3242355	G	T	3242355	2	4	167	1	0	0	0	0	0	0	0	1	10003	1219	43	5		5	MXRA5	23	3242355	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		3242355	152028205	81	11888											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999353	27999353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtctgaggaggccgcCgtcaccgctgctactccaga	8	8	11	14	3	3	2	2	1	1	1	4	3	4	3	4	2	2	2	4	2	2	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:27999353C>T	ENST00000441525.1	-	1	213	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567																																						uc004dbx.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(97-99)acG>acA		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							54	43	47					X																	27999353		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999353C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.99G>A	X.37:g.27999353C>T							p.T33T	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	214	-			33					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.99G>A	CCDS35222.1																																																																																				0.567	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		T	27999353	C	T	27999353	2	4	167	1	0	0	0	0	0	0	0	1	4277	639	23	2		2	DCAF8L1	23	27999353	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	24756998	27999353	127271207	82	11889											
GPR34	2857	broad.mit.edu	37	chrX	41555890	41555890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgtccagtaacattcGcaaaataatgtgccaacttc	13	11	6	11	1	0	1	0	1	0	0	3	1	1	1	3	0	3	2	3	0	5	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:41555890G>A	ENST00000378142.4	+	3	1288	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R335H|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	335					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTAACATTCGCAAAATAATG	0.373																																						uc022bvc.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1003-1005)cGc>cAc		Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.							103	87	92					X																	41555890		2202	4300	6502	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555890G>A	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.1004G>A	X.37:g.41555890G>A	ENSP00000367384:p.Arg335His					CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R335H|GPR34_uc004dfq.4_Missense_Mutation_p.R335H|GPR34_uc010nhg.3_Missense_Mutation_p.R335H|GPR34_uc004dfr.4_Missense_Mutation_p.R335H	p.R335H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN			0	1004	+			335					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.1004G>A	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711578	0.68730	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.58358	0.34;0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68085	-0.5502	10	0.87932	D	0	-9.9376	18.8763	0.92337	0.0:0.0:1.0:0.0	.	335	Q9UPC5	GPR34_HUMAN	H	335;335;288	ENSP00000367384:R335H;ENSP00000367378:R335H	ENSP00000367378:R335H	R	+	2	0	GPR34	41440834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.689000	0.74562	2.405000	0.81733	0.594000	0.82650	CGC		0.373	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		A	41555890	G	A	41555890	3	1	167	1	0	0	0	0	1	0	0	0	6689	1087	38	1	1006	1	GPR34	23	41555890	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	13556537	41555890	113714670	83	11890											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420246	69420246	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccatccatcactcccTttgtagggaccttagaaagg	9	13	7	12	0	1	1	1	0	0	1	4	2	4	2	4	2	0	1	4	2	3	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:69420246T>A	ENST00000333026.3	+	4	509	c.409T>A	c.(409-411)Ttt>Att	p.F137I		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	137					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATCACTCCCTTTGTAGGGAC	0.413																																						uc004dxx.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(409-411)Ttt>Att		Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.							133	105	115					X																	69420246		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420246T>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.409T>A	X.37:g.69420246T>A	ENSP00000328036:p.Phe137Ile						p.F137I	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			3	506	+			137					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.409T>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183748	0.57800	.	.	ENSG00000184210	ENST00000333026	D	0.91068	-2.78	5.35	5.35	0.76521	.	0.691939	0.14187	N	0.335597	D	0.90061	0.6896	M	0.71206	2.165	0.41596	D	0.988826	B	0.24317	0.101	B	0.29942	0.109	D	0.86571	0.1847	10	0.35671	T	0.21	-4.3172	12.077	0.53649	0.0:0.0:0.0:1.0	.	137	Q6ZPD8	DG2L6_HUMAN	I	137	ENSP00000328036:F137I	ENSP00000328036:F137I	F	+	1	0	DGAT2L6	69336971	0.663000	0.27448	0.686000	0.30086	0.784000	0.44337	4.369000	0.59511	1.982000	0.57802	0.486000	0.48141	TTT		0.413	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		A	69420246	T	A	69420246	3	1	167	1	0	0	0	0	1	0	0	0	4459	1609	56	5	423	5	DGAT2L6	23	69420246	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	27864356	69420246	85850314	84	11891											
CENPI	2491	broad.mit.edu	37	chrX	100382542	100382542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtagctacactaaagAatgtggaaaaaaagagatga	19	8	9	5	0	0	3	0	1	0	2	1	5	1	4	1	1	2	2	1	1	8	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:100382542A>G	ENST00000372927.1	+	10	1239	c.962A>G	c.(961-963)gAa>gGa	p.E321G	CENPI_ENST00000372926.1_Missense_Mutation_p.E321G|CENPI_ENST00000423383.1_Missense_Mutation_p.E321G|CENPI_ENST00000218507.5_Missense_Mutation_p.E321G	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	321					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TACACTAAAGAATGTGGAAAA	0.353																																						uc004egx.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(961-963)gAa>gGa		Homo sapiens centromere protein I (CENPI), mRNA.							83	79	80					X																	100382542		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382542A>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.962A>G	X.37:g.100382542A>G	ENSP00000362018:p.Glu321Gly					CENPI_uc011mrg.2_Missense_Mutation_p.E321G|CENPI_uc004egy.3_Missense_Mutation_p.E321G	p.E321G	NM_006733	NP_006724	Q92674	CENPI_HUMAN			9	1232	+			321					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.962A>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	a	7.642	0.681017	0.14907	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.27	4.11	0.48088	.	0.519730	0.20694	N	0.087418	T	0.33760	0.0874	M	0.63428	1.95	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.011;0.015	T	0.29671	-1.0004	9	0.24483	T	0.36	-12.1507	3.0834	0.06270	0.639:0.1427:0.0781:0.1401	.	321;321	B4DZL4;Q92674	.;CENPI_HUMAN	G	321	.	ENSP00000218507:E321G	E	+	2	0	CENPI	100269198	0.006000	0.16342	0.935000	0.37517	0.398000	0.30690	0.343000	0.19944	0.757000	0.33036	0.412000	0.27726	GAA		0.353	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		G	100382542	A	G	100382542	3	3	167	1	0	0	0	0	1	0	0	0	3233	246	9	4	996	4	CENPI	23	100382542	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	30962296	100382542	54888018	85	11892											
ARMCX5	64860	broad.mit.edu	37	chrX	101858012	101858012	+	Frame_Shift_Del	DEL	C	C	-																															agcctaaagagtttgataaaCttgttgccctccttaagtta																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858012delC	ENST00000604957.1	+	1	3565	c.943delC	c.(943-945)cttfs	p.L315fs	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Frame_Shift_Del_p.L315fs|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Frame_Shift_Del_p.L315fs|ARMCX5_ENST00000536530.1_Frame_Shift_Del_p.L315fs|ARMCX5_ENST00000541409.1_Frame_Shift_Del_p.L315fs|ARMCX5_ENST00000246174.2_Frame_Shift_Del_p.L315fs	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	315										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTTGATAAACTTGTTGCCCT	0.388																																						uc022cbb.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(943-945)cttfs		Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.							65	61	63					X																	101858012		2202	4300	6502	SO:0001589	frameshift_variant	64860						binding	g.chrX:101858012delC		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.943delC	X.37:g.101858012delC	ENSP00000474720:p.Leu315fs					ARMCX5_uc004ejg.3_Frame_Shift_Del_p.L315fs|ARMCX5_uc022caw.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cax.1_Frame_Shift_Del_p.L315fs|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cba.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc004ejh.3_Frame_Shift_Del_p.L315fs	p.L315fs	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			0	943	+			315					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Frame_Shift_Del	DEL	ENST00000604957.1	37	c.943delC	CCDS14500.1																																																																																				0.388	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		-	101858012	C	-	101858012	7	5	167	1	0	1	0	1	0	0	0	0	962	565	20	0	945	0	ARMCX5	23	101858012	Frame_Shift_Del	DEL	C	TCGA-19-5954-01A-11D-1696-08	1475470	101858012	53412548	86	11893			1	32		2	2	18	N	G_C	4.94226e-05
ARMCX5	64860	broad.mit.edu	37	chrX	101858029	101858029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgttgccctccttaaGttaactaaggatcctttcat	11	15	5	10	0	1	0	1	0	0	0	3	1	3	1	3	1	3	2	3	1	4	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858029G>C	ENST00000604957.1	+	1	3582	c.960G>C	c.(958-960)aaG>aaC	p.K320N	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K320N|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K320N|ARMCX5_ENST00000536530.1_Missense_Mutation_p.K320N|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K320N|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K320N	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	320										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTCCTTAAGTTAACTAAGG	0.383																																						uc022cbb.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(958-960)aaG>aaC		Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.							68	66	66					X																	101858029		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101858029G>C		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.960G>C	X.37:g.101858029G>C	ENSP00000474720:p.Lys320Asn					ARMCX5_uc004ejg.3_Missense_Mutation_p.K320N|ARMCX5_uc022caw.1_Missense_Mutation_p.K320N|ARMCX5_uc022cax.1_Missense_Mutation_p.K320N|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.K320N|ARMCX5_uc022cba.1_Missense_Mutation_p.K320N|ARMCX5_uc004ejh.3_Missense_Mutation_p.K320N	p.K320N	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			0	960	+			320					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.960G>C	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155029	0.38021	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	3.9	1.09	0.20402	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44285	D	0.000471	T	0.36303	0.0962	L	0.46157	1.445	0.28677	N	0.905316	D	0.67145	0.996	D	0.64687	0.928	T	0.16070	-1.0415	10	0.40728	T	0.16	-10.5721	3.3049	0.06996	0.2558:0.2193:0.5248:0.0	.	320	Q6P1M9	ARMX5_HUMAN	N	320	ENSP00000246174:K320N;ENSP00000439001:K320N;ENSP00000446385:K320N;ENSP00000445851:K320N;ENSP00000361827:K320N	ENSP00000246174:K320N	K	+	3	2	ARMCX5	101744685	0.998000	0.40836	0.624000	0.29186	0.816000	0.46133	0.310000	0.19356	0.105000	0.17753	0.600000	0.82982	AAG		0.383	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		C	101858029	G	C	101858029	3	2	167	1	0	0	0	0	1	0	0	0	962	1020	36	5	962	5	ARMCX5	23	101858029	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	17	101858029	53412531	87	11894			1	32		2	2	18	N	G_C	4.94226e-05
SLITRK4	139065	broad.mit.edu	37	chrX	142717642	142717642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccattgagatatagcctgCgtaaattagtgagattgtga	12	13	11	5	1	0	3	0	3	0	2	0	5	0	3	2	0	3	1	2	0	5	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:142717642C>T	ENST00000381779.4	-	2	1508	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R428H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R428H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	428						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAGCCTGCGTAAATTAGT	0.358																																						uc022cfm.1																			0		p.R428R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1282-1284)cGc>cAc		Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.							98	86	90					X																	142717642		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717642C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1283G>A	X.37:g.142717642C>T	ENSP00000371198:p.Arg428His					SLITRK4_uc022cfl.1_Missense_Mutation_p.R428H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R428H|SLITRK4_uc004fby.3_Missense_Mutation_p.R428H	p.R428H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			0	1283	-	Acute lymphoblastic leukemia(192;6.56e-05)		428					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1283G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807959	0.50421	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.59772	0.24;0.24;0.24	5.38	5.38	0.77491	.	0.056847	0.64402	D	0.000003	T	0.67841	0.2936	L	0.33137	0.985	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.71073	-0.4698	10	0.72032	D	0.01	-8.338	16.8528	0.85998	0.0:1.0:0.0:0.0	.	428	Q8IW52	SLIK4_HUMAN	H	428	ENSP00000371198:R428H;ENSP00000349400:R428H;ENSP00000336627:R428H	ENSP00000336627:R428H	R	-	2	0	SLITRK4	142545308	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	3.309000	0.51903	2.384000	0.81235	0.594000	0.82650	CGC		0.358	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		T	142717642	C	T	142717642	3	4	167	1	0	0	0	0	1	0	0	0	14745	768	27	1	1234	1	SLITRK4	23	142717642	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	40859613	142717642	12552918	88	11895											
PASD1	139135	broad.mit.edu	37	chrX	150828252	150828252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcacatgtttgtagattCtgattcaacttattgctcca	9	17	6	9	1	3	2	2	1	1	1	4	2	4	2	1	0	2	4	1	0	3	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:150828252C>A	ENST00000370357.4	+	10	1030	c.785C>A	c.(784-786)tCt>tAt	p.S262Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	262						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373																																						uc004fev.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(784-786)tCt>tAt		Homo sapiens PAS domain containing 1 (PASD1), mRNA.							224	182	196					X																	150828252		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150828252C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.785C>A	X.37:g.150828252C>A	ENSP00000359382:p.Ser262Tyr						p.S262Y	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			9	1117	+	Acute lymphoblastic leukemia(192;6.56e-05)		262					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.785C>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143612	0.21205	.	.	ENSG00000166049	ENST00000370357	T	0.70164	-0.46	3.47	1.65	0.23941	.	.	.	.	.	T	0.61464	0.2349	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.56474	0.799	T	0.50890	-0.8774	9	0.87932	D	0	.	4.0977	0.09998	0.0:0.6207:0.2396:0.1397	.	262	Q8IV76	PASD1_HUMAN	Y	262	ENSP00000359382:S262Y	ENSP00000359382:S262Y	S	+	2	0	PASD1	150578908	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.989000	0.03736	0.315000	0.23110	0.600000	0.82982	TCT		0.373	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		A	150828252	C	A	150828252	3	1	167	1	0	0	0	0	1	0	0	0	11471	913	32	5	819	5	PASD1	23	150828252	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	8110610	150828252	4442308	89	11896											
DUSP9	1852	broad.mit.edu	37	chrX	152915703	152915703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgcggcctccaacccGccctccttcttcaccacccc	5	8	5	23	2	3	0	1	0	2	0	5	0	5	0	8	1	2	1	8	1	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:152915703G>A	ENST00000342782.3	+	4	1363	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	DUSP9_ENST00000370167.4_Silent_p.P366P			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	366	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAACCCGCCCTCCTTCT	0.716																																						uc004fhx.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16						c.(1096-1098)ccG>ccA		Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.							46	43	44					X																	152915703		2203	4299	6502	SO:0001819	synonymous_variant	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915703G>A	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1098G>A	X.37:g.152915703G>A						DUSP9_uc004fhy.4_Silent_p.P366P	p.P366P	NM_001395	NP_001386	Q99956	DUS9_HUMAN			3	1302	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		366			Tyrosine-protein phosphatase.		D3DWU5	Silent	SNP	ENST00000342782.3	37	c.1098G>A	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	g	5.798	0.331506	0.10956	.	.	ENSG00000130829	ENST00000433144	.	.	.	4.68	-7.87	0.01183	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.41142	-0.9525	4	.	.	.	.	3.3249	0.07063	0.3235:0.3901:0.1935:0.093	.	.	.	.	H	337	.	.	R	+	2	0	DUSP9	152568897	0.000000	0.05858	0.172000	0.22920	0.446000	0.32137	-2.859000	0.00727	-1.424000	0.01999	0.529000	0.55759	CGC		0.716	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		A	152915703	G	A	152915703	2	1	167	1	0	0	0	0	0	0	0	1	4832	1074	38	1		1	DUSP9	23	152915703	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	2087451	152915703	2354857	90	11897											
CLCN6	1185	broad.mit.edu	37	chr1	11897139	11897139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagcgagctacggaaCatgtgtgatgagcacatcgc	11	7	11	12	3	0	2	0	2	0	0	2	4	1	3	2	1	5	2	2	1	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:11897139C>T	ENST00000346436.6	+	19	2116	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	CLCN6_ENST00000376487.3_Silent_p.N666N|CLCN6_ENST00000376496.3_Silent_p.N688N|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	688					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTACGGAACATGTGTGATG	0.632																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2062-2064)aaC>aaT		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.							68	63	65					1																	11897139		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897139C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2064C>T	1.37:g.11897139C>T						CLCN6_uc010oat.2_Silent_p.N404N|CLCN6_uc010oau.2_Silent_p.N666N	p.N688N	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	2177	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	688					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2064C>T	CCDS138.1																																																																																				0.632	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		T	11897139	C	T	11897139	2	4	168	1	0	0	0	0	0	0	0	1	3467	477	17	3		3	CLCN6	1	11897139	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		11897139	237353482	1	11898											
PADI3	51702	broad.mit.edu	37	chr1	17609431	17609431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctggaggagaaggtgCggtccctgctggagccgctg	5	7	18	11	2	0	1	0	0	0	1	1	4	1	3	3	5	4	3	3	5	1	0	rs144763474	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:17609431C>T	ENST00000375460.3	+	16	1892	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	618			R -> Q (in dbSNP:rs35624745).		protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGAAGGTGCGGTCCCTGCT	0.602													C|||	3	0.000599042	0.0023	0	5008	,	,		19111	0		0	False		,,,				2504	0					uc001bai.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1852-1854)Cgg>Tgg		Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	L-Citrulline(DB00155)	C	TRP/ARG	21,4385	29.0+/-57.7	0,21,2182	79	64	69		1852	5	1	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense	PADI3	NM_016233.2	101	0,21,6482	TT,TC,CC		0.0,0.4766,0.1615	probably-damaging	618/665	17609431	21,12985	2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17609431C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1852C>T	1.37:g.17609431C>T	ENSP00000364609:p.Arg618Trp						p.R618W	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	15	1892	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	618		R -> Q (in dbSNP:rs35624745).			Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1852C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974616	0.74360	0.004766	0.0	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.0	5.0	0.66597	Protein-arginine deiminase, C-terminal (1);	0.275088	0.37095	N	0.002252	T	0.45816	0.1361	M	0.87682	2.9	0.45822	D	0.998695	D	0.65815	0.995	P	0.54210	0.745	T	0.52563	-0.8559	10	0.56958	D	0.05	-18.3345	10.5262	0.44950	0.0:0.9105:0.0:0.0895	.	618	Q9ULW8	PADI3_HUMAN	W	618	ENSP00000364609:R618W	ENSP00000364609:R618W	R	+	1	2	PADI3	17482018	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	0.964000	0.29306	2.317000	0.78254	0.561000	0.74099	CGG		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			T	17609431	C	T	17609431	3	4	168	1	0	0	0	0	1	0	0	0	11379	759	27	1	1914	1	PADI3	1	17609431	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	5712292	17609431	231641190	2	11899											
TMEM57	55219	broad.mit.edu	37	chr1	25784890	25784890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtattgtagcagccaaaGgattacctgatatggattct	11	14	10	6	0	1	1	0	1	1	0	1	3	1	3	2	3	3	3	2	3	5	7			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:25784890G>A	ENST00000374343.4	+	6	840	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	221					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCCAAAGGATTACCTGA	0.378																																						uc001bkk.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(661-663)Gga>Aga		Homo sapiens transmembrane protein 57 (TMEM57), mRNA.							119	134	129					1																	25784890		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25784890G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.661G>A	1.37:g.25784890G>A	ENSP00000363463:p.Gly221Arg					TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	p.G221R	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	5	863	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	221					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.661G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770517	0.90108	.	.	ENSG00000204178	ENST00000374343	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.72894	2.215	0.80722	D	1	D	0.54964	0.969	P	0.58454	0.839	T	0.70912	-0.4743	9	0.30078	T	0.28	-12.2619	19.583	0.95478	0.0:0.0:1.0:0.0	.	221	Q8N5G2	MACOI_HUMAN	R	221	.	ENSP00000363463:G221R	G	+	1	0	TMEM57	25657477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GGA		0.378	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		A	25784890	G	A	25784890	3	1	168	1	0	0	0	0	1	0	0	0	16181	1001	35	3	683	3	TMEM57	1	25784890	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	8175459	25784890	223465731	3	11900											
SFRS11	9295	broad.mit.edu	37	chr1	70716405	70716405	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacaaaggaatgttctgtgGaaaagggaactggtgattca	16	9	12	4	0	2	1	1	1	1	0	2	4	2	4	0	4	2	1	0	4	6	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:70716405G>T	ENST00000370950.3	+	13	1454	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	SRSF11_ENST00000370951.1_Nonsense_Mutation_p.E457*|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Nonsense_Mutation_p.E458*|SRSF11_ENST00000370949.1_Nonsense_Mutation_p.E398*			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	458					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						ATGTTCTGTGGAAAAGGGAAC	0.398																																						uc001des.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1372-1374)Gaa>Taa		Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.							87	81	83					1																	70716405		2203	4300	6503	SO:0001587	stop_gained	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70716405G>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1372G>T	1.37:g.70716405G>T	ENSP00000359988:p.Glu458*					SRSF11_uc001det.3_Nonsense_Mutation_p.E457*|SRSF11_uc001dev.3_Nonsense_Mutation_p.E268*|SRSF11_uc001dew.3_Nonsense_Mutation_p.E398*	p.E458*	NM_004768	NP_004759	Q05519	SRS11_HUMAN			12	1496	+			458					Q5T758|Q8IWE6	Nonsense_Mutation	SNP	ENST00000370950.3	37	c.1372G>T	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536559	0.85812	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	.	.	.	5.46	5.46	0.80206	.	0.227174	0.44688	D	0.000436	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6842	0.95974	0.0:0.0:1.0:0.0	.	.	.	.	X	457;458;458;398	.	ENSP00000359987:E398X	E	+	1	0	SRSF11	70488993	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.384000	0.79751	2.740000	0.93945	0.455000	0.32223	GAA		0.398	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		T	70716405	G	T	70716405	4	4	168	1	0	0	0	0	0	1	0	0	14166	1175	41	5	1418	5	SFRS11	1	70716405	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	44931515	70716405	178534216	4	11901											
C1orf173	127254	broad.mit.edu	37	chr1	75037396	75037396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccacaacccttcctcctCccatgccctcattcttttgt	6	13	3	19	0	2	0	1	0	1	0	5	0	5	0	6	0	3	0	6	0	1	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:75037396C>T	ENST00000326665.5	-	14	4216	c.3998G>A	c.(3997-3999)gGa>gAa	p.G1333E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1333	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCCTCCCATGCCCTC	0.562																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3997-3999)gGa>gAa		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							271	252	258					1																	75037396		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037396C>T																												ENST00000326665.5:c.3998G>A	1.37:g.75037396C>T	ENSP00000322609:p.Gly1333Glu						p.G1333E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	4217	-			1333			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3998G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720974	0.30503	.	.	ENSG00000178965	ENST00000326665	T	0.14022	2.54	4.48	-7.66	0.01277	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41106	-0.9527	9	0.02654	T	1	.	1.8043	0.03077	0.1128:0.2351:0.2451:0.4071	.	1333	Q5RHP9	CA173_HUMAN	E	1333	ENSP00000322609:G1333E	ENSP00000322609:G1333E	G	-	2	0	C1orf173	74809984	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.337000	0.01104	-0.827000	0.04278	0.462000	0.41574	GGA		0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			T	75037396	C	T	75037396	3	4	168	1	0	0	0	0	1	0	0	0	2014	855	30	3	598	3	C1orf173	1	75037396	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	4320991	75037396	174213225	5	11902											
FNDC7	163479	broad.mit.edu	37	chr1	109270578	109270578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgacactactcctgcGtgcaccctttcggctctaga	8	11	8	14	2	1	2	0	1	1	1	3	2	2	2	2	1	4	3	2	1	3	3	rs151239518	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:109270578G>A	ENST00000370017.3	+	7	1537	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	FNDC7_ENST00000271311.2_Silent_p.A421A	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	420	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTACTCCTGCGTGCACCCTTT	0.483													G|||	5	0.000998403	8e-04	0	5008	,	,		24008	0.004		0	False		,,,				2504	0					uc001dvx.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1258-1260)gcG>gcA		Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	266	226	240		1260	-11.4	0.3	1	dbSNP_134	240	0,8600		0,0,4300	no	coding-synonymous	FNDC7	NM_001144937.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		420/734	109270578	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109270578G>A		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1260G>A	1.37:g.109270578G>A						FNDC7_uc010ova.2_Silent_p.A187A	p.A420A	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	6	1260	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	421			Fibronectin type-III 5.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.1260G>A	CCDS44185.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	0.884	-0.727708	0.03158	4.54E-4	0.0	ENSG00000143107	ENST00000445274	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	4	.	.	.	-20.1361	2.065	0.03601	0.2224:0.353:0.229:0.1956	.	.	.	.	M	196	.	.	V	+	1	0	FNDC7	109072101	0.071000	0.21146	0.304000	0.25085	0.076000	0.17211	-0.800000	0.04555	-2.229000	0.00720	-2.108000	0.00357	GTG		0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		A	109270578	G	A	109270578	2	1	168	1	0	0	0	0	0	0	0	1	5973	1132	40	1		1	FNDC7	1	109270578	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	34233182	109270578	139980043	6	11903											
FLG	2312	broad.mit.edu	37	chr1	152276186	152276186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtactgggcccagcccGtccatgggcagactcagact	8	7	11	15	1	1	2	1	0	0	2	3	2	3	2	4	2	2	2	4	2	1	1	rs145171931	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:152276186G>A	ENST00000368799.1	-	3	11211	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3726	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCCCGTCCATGGGCA	0.607									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11176-11178)Cgg>Tgg		Homo sapiens filaggrin (FLG), mRNA.		G	TRP/ARG	0,4406		0,0,2203	222	226	224		11176	1.4	0	1	dbSNP_134	224	4,8596	3.7+/-12.6	0,4,4296	no	missense	FLG	NM_002016.1	101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	3726/4062	152276186	4,13002	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276186G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11176C>T	1.37:g.152276186G>A	ENSP00000357789:p.Arg3726Trp						p.R3726W	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11212	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3726			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11176C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.227	0.041046	0.08196	0.0	4.65E-4	ENSG00000143631	ENST00000368799	T	0.01745	4.66	3.35	1.37	0.22104	.	.	.	.	.	T	0.00552	0.0018	N	0.22421	0.69	0.09310	N	1	B	0.21381	0.055	B	0.09377	0.004	T	0.45614	-0.9249	9	0.52906	T	0.07	.	9.373	0.38266	0.0:0.4314:0.5686:0.0	.	3726	P20930	FILA_HUMAN	W	3726	ENSP00000357789:R3726W	ENSP00000357789:R3726W	R	-	1	2	FLG	150542810	0.046000	0.20272	0.003000	0.11579	0.003000	0.03518	0.711000	0.25764	0.400000	0.25396	-0.321000	0.08615	CGG		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152276186	G	A	152276186	3	1	168	1	0	0	0	0	1	0	0	0	5922	1144	40	1	1013	1	FLG	1	152276186	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	43005608	152276186	96974435	7	11904											
NUF2	83540	broad.mit.edu	37	chr1	163306614	163306614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaagcatgccgtgaaacGtatatggaatttctttggca	13	11	11	6	2	1	2	0	1	1	1	1	4	1	3	1	2	3	3	1	2	5	4	rs148215962		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:163306614G>A	ENST00000271452.3	+	6	690	c.411G>A	c.(409-411)acG>acA	p.T137T	NUF2_ENST00000367900.3_Silent_p.T137T|NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Silent_p.T137T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	137	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCCGTGAAACGTATATGGAAT	0.313													G|||	1	0.000199681	0	0.0014	5008	,	,		16210	0		0	False		,,,				2504	0					uc001gcq.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(409-411)acG>acA		Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	68	70	69		411,411	-9.4	0	1	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	NUF2	NM_031423.3,NM_145697.2	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	137/465,137/465	163306614	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163306614G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.411G>A	1.37:g.163306614G>A						NUF2_uc001gcr.1_Silent_p.T137T	p.T137T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			5	711	+	all_hematologic(923;0.101)		137			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.411G>A	CCDS1245.1																																																																																				0.313	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		A	163306614	G	A	163306614	2	1	168	1	0	0	0	0	0	0	0	1	10747	1132	40	1		1	NUF2	1	163306614	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	11030428	163306614	85944007	8	11905											
PAPPA2	60676	broad.mit.edu	37	chr1	176734853	176734853	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccgtcattgctgctTgatcatgctgatgtggtgaa	7	14	12	8	1	2	3	2	3	0	0	3	3	3	3	1	1	4	4	1	1	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:176734853T>C	ENST00000367662.3	+	15	5367	c.4203T>C	c.(4201-4203)ctT>ctC	p.L1401L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1401	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATTGCTGCTTGATCATGCTG	0.507																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4201-4203)ctT>ctC		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							193	185	187					1																	176734853		2077	4221	6298	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734853T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4203T>C	1.37:g.176734853T>C						PAPPA2_uc009www.3_Non-coding_Transcript	p.L1401L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5367	+			1401			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4203T>C	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176734853	T	C	176734853	2	2	168	1	0	0	0	0	0	0	0	1	11433	1799	63	4		4	PAPPA2	1	176734853	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	13428239	176734853	72515768	9	11906											
SLC45A3	85414	broad.mit.edu	37	chr1	205632180	205632180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttccggaaagccaagcGggcccggcatggacagcagt	10	4	15	12	3	0	0	0	0	0	0	1	2	1	2	3	5	3	3	3	5	2	1	rs374541335		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:205632180G>A	ENST00000367145.3	-	3	1034	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	247					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAAGCCAAGCGGGCCCGGCAT	0.716			T	"ETV1, ETV5, ELK4, ERG"	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"solute carrier family 45, member 3"			E	"ETV1, ETV5, ELK4, ERG"		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(739-741)Cgc>Tgc		Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.		G	CYS/ARG	0,4396		0,0,2198	16	23	21		739	4.2	0.4	1		21	1,8587		0,1,4293	no	missense	SLC45A3	NM_033102.2	180	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	benign	247/554	205632180	1,12983	2198	4294	6492	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632180G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.739C>T	1.37:g.205632180G>A	ENSP00000356113:p.Arg247Cys					SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	p.R247C	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	1078	-	Breast(84;0.07)		247					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.739C>T	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530172	0.27387	0.0	1.16E-4	ENSG00000158715	ENST00000367145	T	0.48201	0.82	5.15	4.21	0.49690	Major facilitator superfamily domain, general substrate transporter (1);	0.224366	0.47455	D	0.000237	T	0.30978	0.0782	N	0.14661	0.345	0.27659	N	0.947147	P;P	0.50710	0.938;0.938	B;B	0.43360	0.417;0.417	T	0.13229	-1.0517	10	0.56958	D	0.05	-13.8637	8.6119	0.33808	0.0811:0.3038:0.6151:0.0	.	247;247	A8K2U9;Q96JT2	.;S45A3_HUMAN	C	247	ENSP00000356113:R247C	ENSP00000356113:R247C	R	-	1	0	SLC45A3	203898803	0.033000	0.19621	0.421000	0.26609	0.231000	0.25187	0.964000	0.29306	1.117000	0.41842	0.491000	0.48974	CGC		0.716	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		A	205632180	G	A	205632180	3	1	168	1	0	0	0	0	1	0	0	0	14642	1116	39	2	934	2	SLC45A3	1	205632180	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	28897327	205632180	43618441	10	11907											
LEFTY2	7044	broad.mit.edu	37	chr1	226125177	226125177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcacgagcgccccatcCgaggcacagctgcacttctg	7	7	11	16	3	1	0	0	0	1	0	2	2	2	0	3	2	3	4	3	2	0	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:226125177C>T	ENST00000366820.5	-	4	1413	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Silent_p.S321S|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	355					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGCCCCATCCGAGGCACAGC	0.602																																					Colon(172;116 2643 9098 43333)	uc001hpt.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1063-1065)tcG>tcA		Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.							59	59	59					1																	226125177		2203	4300	6503	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125177C>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.1065G>A	1.37:g.226125177C>T						LEFTY2_uc010pvk.2_Silent_p.S321S|LEFTY2_uc009xek.2_3'UTR	p.S355S	NM_003240	NP_003231	O00292	LFTY2_HUMAN			3	1308	-	Breast(184;0.197)		355					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.1065G>A	CCDS1549.1																																																																																				0.602	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		T	226125177	C	T	226125177	2	4	168	1	0	0	0	0	0	0	0	1	8716	639	23	2		2	LEFTY2	1	226125177	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	20492997	226125177	23125444	11	11908											
OR2M2	391194	broad.mit.edu	37	chr1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGttgcaaagctttcacgacct	9	10	13	9	2	2	1	1	0	1	1	3	4	2	2	1	3	2	3	1	3	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468																																						uc010pzf.2																			2	Substitution - Missense(2)	p.R234H(4)	prostate(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(700-702)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.							175	154	161					1																	248343988		2203	4299	6502	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343988G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.701G>A	1.37:g.248343988G>A	ENSP00000352710:p.Arg234His						p.R234H	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.701G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436111	0.12104	.	.	ENSG00000198601	ENST00000359682	T	0.00333	8.07	2.03	-0.0998	0.13623	GPCR, rhodopsin-like superfamily (1);	1.102670	0.07291	N	0.872436	T	0.00412	0.0013	M	0.83603	2.65	0.09310	N	1	B	0.21606	0.058	B	0.21708	0.036	T	0.38478	-0.9659	10	0.72032	D	0.01	.	10.5714	0.45202	0.1236:0.0:0.8764:0.0	.	234	Q96R28	OR2M2_HUMAN	H	234	ENSP00000352710:R234H	ENSP00000352710:R234H	R	+	2	0	OR2M2	246410611	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.169000	0.10834	-1.847000	0.00572	CGT		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		A	248343988	G	A	248343988	3	1	168	1	0	0	0	0	1	0	0	0	11010	1145	40	1	703	1	OR2M2	1	248343988	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	22218811	248343988	906633	12	11909											
OR2T27	403239	broad.mit.edu	37	chr1	248813409	248813409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaagaatgaggcagcacGtatgtgtacatggcagcccc	11	8	13	9	1	0	2	0	1	0	1	0	2	0	2	2	3	3	6	2	3	4	3	rs370373865		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248813409G>A	ENST00000344889.3	-	1	776	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGCAGCACGTATGTGTACA	0.532																																						uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(775-777)taC>taT		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.							45	36	39					1																	248813409		2188	4270	6458	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813409G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.777C>T	1.37:g.248813409G>A							p.Y259Y	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	777	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	259						Silent	SNP	ENST00000344889.3	37	c.777C>T	CCDS31124.1																																																																																				0.532	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813409	G	A	248813409	2	1	168	1	0	0	0	0	0	0	0	1	11021	1140	40	1		1	OR2T27	1	248813409	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	469421	248813409	437212	13	11910											
DCTN1	1639	broad.mit.edu	37	chr2	74598790	74598790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagctcacctgctgaCgctgagccagaggggcccag	7	6	13	15	1	2	3	2	2	0	1	2	3	2	3	3	2	4	4	3	2	0	0	rs376565787		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:74598790C>T	ENST00000361874.3	-	8	836	c.519G>A	c.(517-519)gcG>gcA	p.A173A	DCTN1_ENST00000407639.2_Silent_p.A39A|DCTN1_ENST00000409240.1_Silent_p.A136A|DCTN1_ENST00000394003.3_Silent_p.A166A|DCTN1_ENST00000409438.1_Silent_p.A39A|DCTN1_ENST00000409567.3_Silent_p.A153A|DCTN1_ENST00000409868.1_Silent_p.A156A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	173	Ser-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CACCTGCTGACGCTGAGCCAG	0.652																																						uc002skx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(517-519)gcG>gcA		Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.		C	,,,,,	0,4402		0,0,2201	15	18	17		459,117,408,498,519,117	-8.3	0.9	2		17	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	,,,,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	153/1254,39/1140,136/1237,166/1272,173/1279,39/1145	74598790	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598790C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.519G>A	2.37:g.74598790C>T						DCTN1_uc002skv.3_Silent_p.A39A|DCTN1_uc002sku.3_Silent_p.A39A|DCTN1_uc002skw.2_Silent_p.A166A|DCTN1_uc010ffd.3_Silent_p.A153A|DCTN1_uc002sky.3_Silent_p.A136A	p.A173A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			7	837	-			173			Ser-rich.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.519G>A	CCDS1939.1																																																																																				0.652	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74598790	C	T	74598790	2	4	168	1	0	0	0	0	0	0	0	1	4306	523	19	1		1	DCTN1	2	74598790	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		74598790	168600583	14	11911											
IL1RL2	8808	broad.mit.edu	37	chr2	102849423	102849423	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaattccttttcagAtgggaagctgtatgacgcct	8	14	9	10	1	1	2	1	1	0	1	3	3	3	3	3	1	1	2	3	1	3	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:102849423A>T	ENST00000264257.2	+	10	1262	c.1136A>T	c.(1135-1137)gAt>gTt	p.D379V	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Splice_Site_p.D261V|IL1RL2_ENST00000539491.1_Splice_Site_p.D379V	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	379					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCTTTTCAGATGGGAAGCTG	0.507																																						uc002tbs.3																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.e10-1		Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.							97	89	92					2																	102849423		2203	4300	6503	SO:0001630	splice_region_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849423A>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1136-1A>T	2.37:g.102849423A>T						IL1RL2_uc002tbt.3_Splice_Site_p.D261_splice	p.D379_splice	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			10	1262	+			379					A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1136_splice	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503773	0.64298	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.02737	4.18;4.18;4.18	5.93	5.93	0.95920	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.174026	0.48767	D	0.000173	T	0.18383	0.0441	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00307	-1.1830	9	.	.	.	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	261;379	A4FU63;Q9HB29	.;ILRL2_HUMAN	V	379;261;379	ENSP00000264257:D379V;ENSP00000413348:D261V;ENSP00000442184:D379V	.	D	+	2	0	IL1RL2	102215855	1.000000	0.71417	0.978000	0.43139	0.444000	0.32077	5.281000	0.65609	2.263000	0.75096	0.533000	0.62120	GAT		0.507	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	Missense_Mutation	T	102849423	A	T	102849423	5	4	168	1	0	0	0	0	0	0	1	0	7664	347	12	5	1170	5	IL1RL2	2	102849423	Splice_Site	SNP	A	TCGA-19-5955-01A-11D-1696-08	28250633	102849423	140349950	15	11912											
TTN	7273	broad.mit.edu	37	chr2	179446667	179446667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagcggccttggatgcGtcactgggtttgcctggtcc	5	11	14	11	2	1	0	1	0	0	0	2	1	2	1	3	4	3	2	3	4	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179446667G>A	ENST00000591111.1	-	265	61730	c.61506C>T	c.(61504-61506)gaC>gaT	p.D20502D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.D13203D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.D22143D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.D19575D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.D13078D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.D13270D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20502	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGATGCGTCACTGGGTT	0.438																																						uc021vsy.1																			4	Substitution - coding silent(4)	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(1)	prostate(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(58723-58725)gaC>gaT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84	80	81					2																	179446667		1913	4133	6046	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446667G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61506C>T	2.37:g.179446667G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D13270D|TTN_uc021vta.1_Silent_p.D13203D|TTN_uc021vtb.1_Silent_p.D13078D	p.D19575D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	58950	-			20502			Ig-like 109.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.58725C>T																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179446667	G	A	179446667	2	1	168	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179446667	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	76597244	179446667	63752706	16	11913											
TTN	7273	broad.mit.edu	37	chr2	179666963	179666963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtcacggcggggatcGtcagtttagcgcggccatcg	6	10	14	11	6	2	0	2	0	0	0	4	1	2	1	1	4	1	1	1	4	2	4	rs372755739		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179666963G>A	ENST00000591111.1	-	3	421	c.197C>T	c.(196-198)aCg>aTg	p.T66M	TTN_ENST00000359218.5_Missense_Mutation_p.T66M|TTN_ENST00000589042.1_Missense_Mutation_p.T66M|TTN_ENST00000342992.6_Missense_Mutation_p.T66M|TTN_ENST00000460472.2_Missense_Mutation_p.T66M|TTN_ENST00000342175.6_Missense_Mutation_p.T66M|TTN_ENST00000360870.5_Missense_Mutation_p.T66M			Q8WZ42	TITIN_HUMAN	titin	32678	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCGGGGATCGTCAGTTTAGC	0.547																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(196-198)aCg>aTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	130	115	120		197,197,197,197,197	-2	0.9	2		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	66/27119,66/27052,66/5605,66/33424,66/26927	179666963	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179666963G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.197C>T	2.37:g.179666963G>A	ENSP00000465570:p.Thr66Met					TTN_uc021vsz.1_Missense_Mutation_p.T66M|TTN_uc021vta.1_Missense_Mutation_p.T66M|TTN_uc021vtb.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M|TTN_uc002und.3_Missense_Mutation_p.T66M	p.T66M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		2	422	-			66			Ig-like 1.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.197C>T		.	.	.	.	.	.	.	.	.	.	G	9.946	1.218826	0.22373	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.74	-1.97	0.07503	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58736	0.2143	M	0.68317	2.08	0.24357	N	0.994892	B;B;B;B;B	0.28082	0.014;0.014;0.049;0.014;0.2	B;B;B;B;B	0.16289	0.006;0.006;0.006;0.006;0.015	T	0.49844	-0.8896	9	0.87932	D	0	.	8.6829	0.34221	0.6679:0.0:0.2151:0.1171	.	66;66;66;66;66	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	66	ENSP00000343764:T66M;ENSP00000434586:T66M;ENSP00000340554:T66M;ENSP00000352154:T66M;ENSP00000354117:T66M	ENSP00000340554:T66M	T	-	2	0	TTN	179375208	0.124000	0.22315	0.881000	0.34555	0.547000	0.35210	-0.376000	0.07465	-0.770000	0.04614	-1.083000	0.02208	ACG		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179666963	G	A	179666963	3	1	168	1	0	0	0	0	1	0	0	0	16732	1145	40	1	111231	1	TTN	2	179666963	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	220296	179666963	63532410	17	11914											
DCLK3	85443	broad.mit.edu	37	chr3	36779980	36779980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcttgggggtctcGgtctccccacagcggtggtc	3	10	14	14	2	3	0	0	0	3	0	6	0	3	0	2	5	3	2	2	5	0	1	rs188521258	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:36779980G>A	ENST00000416516.2	-	2	661	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGGGGTCTCGGTCTCCCCAC	0.617													G|||	2	0.000399361	0	0.0014	5008	,	,		16602	0.001		0	False		,,,				2504	0					uc003cgi.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(169-171)acC>acT		Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.		G		1,3899		0,1,1949	78	82	80		171	-9.4	0	3		80	0,8294		0,0,4147	no	coding-synonymous	DCLK3	NM_033403.1		0,1,6096	AA,AG,GG		0.0,0.0256,0.0082		57/649	36779980	1,12193	1950	4147	6097	SO:0001819	synonymous_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779980G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.171C>T	3.37:g.36779980G>A							p.T57T	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			1	662	-			57						Silent	SNP	ENST00000416516.2	37	c.171C>T	CCDS43064.1																																																																																				0.617	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		A	36779980	G	A	36779980	2	1	168	1	0	0	0	0	0	0	0	1	4293	1103	39	2		2	DCLK3	3	36779980	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		36779980	161242450	18	11915											
GOLGA4	2803	broad.mit.edu	37	chr3	37360647	37360647	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaagaagcttcagaccCgagaaagggaatttcaggaa	16	6	11	8	1	2	4	2	1	0	3	2	7	2	6	2	2	1	1	2	2	5	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:37360647C>T	ENST00000361924.2	+	12	1881	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.R525*|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	503	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTCAGACCCGAGAAAGGGA	0.378																																						uc003cgv.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1507-1509)Cga>Tga		Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.							87	95	92					3																	37360647		2203	4300	6503	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37360647C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1507C>T	3.37:g.37360647C>T	ENSP00000354486:p.Arg503*					GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.R384*	p.R503*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			11	1867	+			503			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.1507C>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	39	7.738879	0.98462	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	6.02	6.02	0.97574	.	0.538297	0.14074	N	0.343161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	15.2786	0.73764	0.1401:0.8599:0.0:0.0	.	.	.	.	X	503;525;374	.	ENSP00000349305:R525X	R	+	1	2	GOLGA4	37335651	0.679000	0.27596	0.571000	0.28486	0.951000	0.60555	2.501000	0.45389	2.865000	0.98341	0.655000	0.94253	CGA		0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		T	37360647	C	T	37360647	4	4	168	1	0	0	0	0	0	1	0	0	6555	644	23	2	1623	2	GOLGA4	3	37360647	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	580667	37360647	160661783	19	11916											
VIPR1	7433	broad.mit.edu	37	chr3	42567437	42567437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacctggagcctggcccGtaccccattgcctgtggttt	5	10	11	15	2	0	0	0	0	0	0	0	1	0	1	6	3	3	3	6	3	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:42567437G>A	ENST00000325123.4	+	4	464	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Silent_p.P70P|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.P76P|VIPR1-AS1_ENST00000602176.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	117					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662																																						uc003clf.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(349-351)ccG>ccA		Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.							81	62	69					3																	42567437		2203	4300	6503	SO:0001819	synonymous_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42567437G>A	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.351G>A	3.37:g.42567437G>A						VIPR1_uc021wwl.1_Silent_p.P76P|VIPR1_uc011azn.2_Silent_p.P90P|VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR	p.P117P	NM_004624	NP_001238811	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	475	+			117					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	c.351G>A	CCDS2698.1																																																																																				0.662	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		A	42567437	G	A	42567437	2	1	168	1	0	0	0	0	0	0	0	1	17166	1132	40	1		1	VIPR1	3	42567437	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	5206790	42567437	155454993	20	11917											
GRM2	2912	broad.mit.edu	37	chr3	51746533	51746533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatcccacagattagctaCgcctctaccagtgccaagct	11	8	7	15	1	1	2	0	0	1	2	2	2	2	2	4	0	5	2	4	0	4	3	rs200050063		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:51746533C>T	ENST00000395052.3	+	3	729	c.495C>T	c.(493-495)taC>taT	p.Y165Y	GRM2_ENST00000442933.2_Silent_p.Y165Y|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	165					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATTAGCTACGCCTCTACCA	0.532																																						uc010hlv.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(493-495)taC>taT		Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)	C	,	0,4406		0,0,2203	147	133	138		495,	-9.4	0.7	3		138	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,intron	GRM2	NM_000839.3,NM_001130063.1	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	165/873,	51746533	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746533C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.495C>T	3.37:g.51746533C>T						GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	p.Y165Y	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	734	+			165					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.495C>T	CCDS2834.1																																																																																				0.532	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			T	51746533	C	T	51746533	2	4	168	1	0	0	0	0	0	0	0	1	6797	547	19	1		1	GRM2	3	51746533	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	9179096	51746533	146275897	21	11918											
TRAT1	50852	broad.mit.edu	37	chr3	108572525	108572525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcgttaaggggaagcGtagaaagcccaggaaacaga	16	4	13	8	2	1	2	1	0	0	2	1	4	1	4	1	3	4	2	1	3	5	2	rs567522133	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:108572525G>A	ENST00000295756.6	+	6	592	c.362G>A	c.(361-363)cGt>cAt	p.R121H	TRAT1_ENST00000426646.1_Missense_Mutation_p.R84H	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	121					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGGGGAAGCGTAGAAAGCCC	0.423													G|||	3	0.000599042	0	0	5008	,	,		21738	0		0	False		,,,				2504	0.0031					uc003dxi.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(361-363)cGt>cAt		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.							121	107	112					3																	108572525		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572525G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.362G>A	3.37:g.108572525G>A	ENSP00000295756:p.Arg121His					TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	p.R121H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	506	+			121					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.362G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850242	0.51270	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.48836	0.8;0.8	5.48	-1.48	0.08745	.	0.855602	0.10451	N	0.673059	T	0.26122	0.0637	N	0.21583	0.68	0.27357	N	0.956068	B;B	0.24533	0.054;0.105	B;B	0.17433	0.011;0.018	T	0.16276	-1.0408	10	0.41790	T	0.15	-13.2171	2.281	0.04114	0.1611:0.3753:0.2826:0.1809	.	84;121	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	H	121;84	ENSP00000295756:R121H;ENSP00000410097:R84H	ENSP00000295756:R121H	R	+	2	0	TRAT1	110055215	0.000000	0.05858	0.747000	0.31113	0.593000	0.36681	-1.796000	0.01750	-0.293000	0.08986	-0.140000	0.14226	CGT		0.423	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		A	108572525	G	A	108572525	3	1	168	1	0	0	0	0	1	0	0	0	16463	1145	40	1	384	1	TRAT1	3	108572525	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	56825992	108572525	89449905	22	11919											
GPR156	165829	broad.mit.edu	37	chr3	119962857	119962857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcacttacaattgttGtcttgcagagatcatgaagg	10	13	10	8	0	3	2	2	1	1	1	3	3	3	2	0	1	3	4	0	1	3	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:119962857G>A	ENST00000464295.1	-	2	534	c.89C>T	c.(88-90)aCa>aTa	p.T30I	GPR156_ENST00000461057.1_Missense_Mutation_p.T30I|GPR156_ENST00000315843.3_Missense_Mutation_p.T30I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAATTGTTGTCTTGCAGAG	0.537																																						uc011bjf.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(88-90)aCa>aTa		Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.							92	77	82					3																	119962857		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962857G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.89C>T	3.37:g.119962857G>A	ENSP00000417261:p.Thr30Ile					GPR156_uc011bjg.2_Missense_Mutation_p.T30I	p.T30I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	0	469	-			30					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.89C>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324899	0.24080	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22945	1.93;1.93;1.93	4.96	4.07	0.47477	.	0.160723	0.29707	N	0.011418	T	0.12603	0.0306	N	0.17082	0.46	0.28706	N	0.903803	B;B	0.32203	0.36;0.36	B;B	0.24269	0.052;0.052	T	0.09684	-1.0663	9	.	.	.	-3.8559	9.3691	0.38244	0.0994:0.0:0.9006:0.0	.	30;30	E9PFZ4;Q8NFN8	.;GP156_HUMAN	I	30	ENSP00000417261:T30I;ENSP00000324553:T30I;ENSP00000418758:T30I	.	T	-	2	0	GPR156	121445547	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.841000	0.39240	2.563000	0.86464	0.555000	0.69702	ACA		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		A	119962857	G	A	119962857	3	1	168	1	0	0	0	0	1	0	0	0	6661	1377	48	3	2391	3	GPR156	3	119962857	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	11390332	119962857	78059573	23	11920											
DBR1	51163	broad.mit.edu	37	chr3	137890532	137890532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgatccttacacctcGgtattttaccacaccagcca	10	10	4	17	2	0	0	0	0	0	0	3	1	2	0	7	1	3	1	7	1	3	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:137890532G>A	ENST00000260803.4	-	3	499	c.346C>T	c.(346-348)Cga>Tga	p.R116*	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	116					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CTTACACCTCGGTATTTTACC	0.343																																						uc003erv.3																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(346-348)Cga>Tga		Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.							86	87	87					3																	137890532		2203	4300	6503	SO:0001587	stop_gained	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137890532G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.346C>T	3.37:g.137890532G>A	ENSP00000260803:p.Arg116*					DBR1_uc003eru.3_Nonsense_Mutation_p.R65*	p.R116*	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			2	500	-			116					Q96GH0|Q9NXQ6	Nonsense_Mutation	SNP	ENST00000260803.4	37	c.346C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	36	5.788409	0.96945	.	.	ENSG00000138231	ENST00000260803	.	.	.	5.77	5.77	0.91146	.	0.063428	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-13.4936	17.4888	0.87696	0.0:0.0:1.0:0.0	.	.	.	.	X	116	.	ENSP00000260803:R116X	R	-	1	2	DBR1	139373222	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.785000	0.62418	2.727000	0.93392	0.655000	0.94253	CGA		0.343	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			A	137890532	G	A	137890532	4	1	168	1	0	0	0	0	0	1	0	0	4257	1124	39	2	1312	2	DBR1	3	137890532	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	17927675	137890532	60131898	24	11921											
CLSTN2	64084	broad.mit.edu	37	chr3	140185512	140185512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgtctttctcttgcGgaaggacttcgaccaggctg	5	11	11	14	4	2	0	0	0	2	0	5	3	2	2	3	3	1	1	3	3	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:140185512G>A	ENST00000458420.3	+	8	1473	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	428					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTCTCTTGCGGAAGGACTTC	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1282-1284)cGg>cAg		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.							80	73	75					3																	140185512		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140185512G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1283G>A	3.37:g.140185512G>A	ENSP00000402460:p.Arg428Gln	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	p.R428Q	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1473	+			428					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1283G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724618	0.96847	.	.	ENSG00000158258	ENST00000458420	T	0.74106	-0.81	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.112601	0.64402	D	0.000019	T	0.79839	0.4515	M	0.79805	2.47	0.80722	D	1	D	0.53462	0.96	P	0.46940	0.532	T	0.82955	-0.0200	10	0.56958	D	0.05	-15.0041	16.2867	0.82725	0.0:0.0:1.0:0.0	.	428	Q9H4D0	CSTN2_HUMAN	Q	428	ENSP00000402460:R428Q	ENSP00000402460:R428Q	R	+	2	0	CLSTN2	141668202	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.657000	0.98554	2.706000	0.92434	0.655000	0.94253	CGG		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		A	140185512	G	A	140185512	3	1	168	1	0	0	0	0	1	0	0	0	3562	1116	39	2	1313	2	CLSTN2	3	140185512	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	2294980	140185512	57836918	25	11922											
ZBBX	79740	broad.mit.edu	37	chr3	167083682	167083682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcttcttaccttaacaaCatttcctttattttgtgaca	10	19	3	9	0	2	1	0	1	2	0	3	1	3	1	2	0	3	1	2	0	5	9			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:167083682C>A	ENST00000392766.2	-	6	605	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	ZBBX_ENST00000392764.1_Missense_Mutation_p.V60F|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.V89F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V89F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V89F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	89						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACCTTAACAACATTTCCTTTA	0.294																																						uc011bpc.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(265-267)Gtt>Ttt		Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.							99	95	96					3																	167083682		1825	4066	5891	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167083682C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.265G>T	3.37:g.167083682C>A	ENSP00000376519:p.Val89Phe					ZBBX_uc003feq.3_Missense_Mutation_p.V60F|ZBBX_uc003fep.3_Missense_Mutation_p.V89F	p.V89F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN			5	602	-			89					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.265G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584755	0.28268	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.31769	2.99;2.99;3.0;3.0;2.82;1.48	5.21	-3.11	0.05299	.	.	.	.	.	T	0.14141	0.0342	N	0.16478	0.41	0.23889	N	0.996554	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.003	T	0.24977	-1.0145	9	0.54805	T	0.06	0.591	1.4118	0.02293	0.3586:0.2613:0.2346:0.1455	.	89;89	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	89;89;89;89;60;89	ENSP00000376519:V89F;ENSP00000376520:V89F;ENSP00000390232:V89F;ENSP00000305065:V89F;ENSP00000376517:V60F;ENSP00000419307:V89F	ENSP00000305065:V89F	V	-	1	0	ZBBX	168566376	0.001000	0.12720	0.425000	0.26659	0.272000	0.26649	-1.369000	0.02578	-0.478000	0.06823	0.567000	0.79289	GTT		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		A	167083682	C	A	167083682	3	1	168	1	0	0	0	0	1	0	0	0	17513	478	17	5	2201	5	ZBBX	3	167083682	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	26898170	167083682	30938748	26	11923											
FRYL	285527	broad.mit.edu	37	chr4	48559529	48559529	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcttgtggagatccccAtccttctccccgtaaccagc	7	10	9	15	1	1	1	0	0	1	1	4	2	3	1	6	2	2	2	6	2	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:48559529A>C	ENST00000503238.1	-	31	4065	c.4066T>G	c.(4066-4068)Tgg>Ggg	p.W1356G	FRYL_ENST00000537810.1_Missense_Mutation_p.W1356G|FRYL_ENST00000358350.4_Missense_Mutation_p.W1356G|FRYL_ENST00000507711.1_Missense_Mutation_p.W1356G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.W1356G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGAGATCCCCATCCTTCTCCC	0.423																																						uc003gyh.1																			1	Substitution - Missense(1)	p.W1356G(2)	skin(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4066-4068)Tgg>Ggg		Homo sapiens FRY-like (FRYL), mRNA.							138	139	138					4																	48559529		1905	4125	6030	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559529A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4066T>G	4.37:g.48559529A>C	ENSP00000426064:p.Trp1356Gly					FRYL_uc003gyk.3_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	p.W1356G	NM_015030	NP_055845	O94915	FRYL_HUMAN			33	4671	-			1356					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.4066T>G	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.345972|4.345972	0.82022|0.82022	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.|T;T;T;T	.|0.52526	.|1.58;1.58;1.58;0.66	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71195|0.71195	0.3311|0.3311	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;B;D;D	.|0.89917	.|0.985;0.268;1.0;1.0	.|D;B;D;D	.|0.97110	.|0.973;0.437;1.0;0.999	T|T	0.75306|0.75306	-0.3364|-0.3364	5|10	.|0.72032	.|D	.|0.01	.|.	16.2713|16.2713	0.82622|0.82622	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1356;187;1356;1356	.|F2Z2S2;Q6ZR29;O94915;F5GX82	.|.;.;FRYL_HUMAN;.	R|G	226|1356	.|ENSP00000426064:W1356G;ENSP00000351113:W1356G;ENSP00000441114:W1356G;ENSP00000421584:W1356G	.|ENSP00000351113:W1356G	M|W	-|-	2|1	0|0	FRYL|FRYL	48254286|48254286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	9.303000|9.303000	0.96183|0.96183	2.232000|2.232000	0.73038|0.73038	0.528000|0.528000	0.53228|0.53228	ATG|TGG		0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			C	48559529	A	C	48559529	3	2	168	1	0	0	0	0	1	0	0	0	6064	217	8	5	5099	5	FRYL	4	48559529	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08		48559529	142594747	27	11924											
CWH43	80157	broad.mit.edu	37	chr4	49040170	49040170	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggctccagagattatctAcagctcactgaacatggcaa	12	9	8	12	0	2	2	1	1	1	1	3	3	3	2	2	2	3	3	2	2	4	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:49040170A>C	ENST00000226432.4	+	13	1959	c.1776A>C	c.(1774-1776)ctA>ctC	p.L592L	CWH43_ENST00000513409.1_Silent_p.L565L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	592					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATTATCTACAGCTCACTG	0.323																																						uc003gyv.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1774-1776)ctA>ctC		Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.							127	136	133					4																	49040170		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49040170A>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1776A>C	4.37:g.49040170A>C						CWH43_uc011bzl.2_Silent_p.L565L	p.L592L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			12	1958	+			592					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1776A>C	CCDS3486.1																																																																																				0.323	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		C	49040170	A	C	49040170	2	2	168	1	0	0	0	0	0	0	0	1	4073	378	14	5		5	CWH43	4	49040170	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	480641	49040170	142114106	28	11925											
CSN2	1447	broad.mit.edu	37	chr4	70823249	70823249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagaggcagaggaagatGcagattttcaagatcagtga	15	7	14	5	0	2	6	2	1	0	5	2	8	2	7	0	2	2	3	0	2	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:70823249G>T	ENST00000353151.3	-	5	429	c.418C>A	c.(418-420)Cat>Aat	p.H140N		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGAGGAAGATGCAGATTTTCA	0.507																																						uc003hes.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(418-420)Cat>Aat		Homo sapiens casein beta (CSN2), mRNA.							90	96	94					4																	70823249		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823249G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.418C>A	4.37:g.70823249G>T	ENSP00000341030:p.His140Asn					CSN2_uc003het.4_Missense_Mutation_p.H139N	p.H140N	NM_001891	NP_001882	P05814	CASB_HUMAN			4	431	-			140	H -> Q (in Ref. 3; CAA34916).				O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.418C>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319123	0.41096	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.59	1.73	0.24493	.	1.017480	0.07855	N	0.965277	T	0.36524	0.0970	L	0.60455	1.87	0.09310	N	1	B	0.26547	0.152	B	0.24701	0.055	T	0.40924	-0.9537	9	0.62326	D	0.03	-15.2685	2.7829	0.05366	0.1044:0.1785:0.5327:0.1843	.	140	P05814	CASB_HUMAN	N	140	.	ENSP00000341030:H140N	H	-	1	0	CSN2	70857838	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.755000	0.26405	0.349000	0.23975	-0.172000	0.13284	CAT		0.507	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			T	70823249	G	T	70823249	3	4	168	1	0	0	0	0	1	0	0	0	3948	1319	46	5	270	5	CSN2	4	70823249	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	21783079	70823249	120331027	29	11926											
WDFY3	23001	broad.mit.edu	37	chr4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttaaaggacttgccaaaCgtaaaaactccctaagaaag	19	8	6	8	1	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	9	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:85719250C>T	ENST00000295888.4	-	18	3241	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R945H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	945					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R945H(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313																																						uc003hpd.3																			1	Substitution - Missense(1)	p.R945H(2)	prostate(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2833-2835)cGt>cAt		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							101	101	101					4																	85719250		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85719250C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2834G>A	4.37:g.85719250C>T	ENSP00000295888:p.Arg945His						p.R945H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	17	3242	-		Hepatocellular(203;0.114)	945					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2834G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114865	0.94339	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62105	0.05;0.05	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.79329	-0.1848	10	0.66056	D	0.02	.	19.7348	0.96198	0.0:1.0:0.0:0.0	.	945	Q8IZQ1	WDFY3_HUMAN	H	945	ENSP00000318466:R945H;ENSP00000295888:R945H	ENSP00000295888:R945H	R	-	2	0	WDFY3	85938274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.442000	0.80503	2.716000	0.92895	0.655000	0.94253	CGT		0.313	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85719250	C	T	85719250	3	4	168	1	0	0	0	0	1	0	0	0	17267	536	19	1	7950	1	WDFY3	4	85719250	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	14896001	85719250	105435026	30	11927											
ADAM29	11086	broad.mit.edu	37	chr4	175898963	175898963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagagtcaacctcctGtgacaccctcccagagtcaa	10	8	6	17	0	2	3	2	1	0	2	5	3	5	3	5	0	1	0	5	0	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:175898963G>C	ENST00000359240.3	+	5	2957	c.2287G>C	c.(2287-2289)Gtg>Ctg	p.V763L	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V763L|ADAM29_ENST00000445694.1_Missense_Mutation_p.V763L|ADAM29_ENST00000404450.4_Missense_Mutation_p.V763L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	763	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V763M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAACCTCCTGTGACACCCTC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			1	Substitution - Missense(1)	p.V763M(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2287-2289)Gtg>Ctg		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							171	149	156					4																	175898963		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898963G>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2287G>C	4.37:g.175898963G>C	ENSP00000352177:p.Val763Leu					ADAM29_uc003iud.3_Missense_Mutation_p.V763L|ADAM29_uc010irr.3_Missense_Mutation_p.V763L|ADAM29_uc011cki.2_Missense_Mutation_p.V763L|ADAM29_uc021xuo.1_Missense_Mutation_p.V763L	p.V763L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	2957	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	763			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2287G>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	g	4.901	0.167356	0.09339	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01804	4.63;4.63;4.63;4.63	0.537	-0.478	0.12093	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.17433	0.018	T	0.48681	-0.9014	8	.	.	.	.	3.7153	0.08435	0.6278:0.0:0.3722:0.0	.	763	Q9UKF5	ADA29_HUMAN	L	763	ENSP00000352177:V763L;ENSP00000414544:V763L;ENSP00000384229:V763L;ENSP00000423517:V763L	.	V	+	1	0	ADAM29	176135538	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.111000	0.15458	-0.273000	0.09246	0.297000	0.19635	GTG		0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				C	175898963	G	C	175898963	3	2	168	1	0	0	0	0	1	0	0	0	247	1377	48	5	2289	5	ADAM29	4	175898963	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	90179713	175898963	15255313	31	11928											
PIK3R1	5295	broad.mit.edu	37	chr5	67591246	67591246	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcaaaactgtttttcAggtggttgactcaaaaaggt	11	16	8	6	0	4	1	3	1	1	0	4	1	4	1	0	3	1	2	0	3	4	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:67591246A>G	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		12	Unknown(10)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.?(10)|p.Y580fs*1(1)|p.0?(1)	endometrium(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14-2		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						150	148	149					5																	67591246		2203	4300	6503	SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591246A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1746-1A>G	5.37:g.67591246A>G		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	p.M582_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2326	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	582					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	ENST00000521381.1	37	c.1746_splice	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060385	0.76074	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6086	0.68498	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67627002	1.000000	0.71417	0.981000	0.43875	0.926000	0.56050	9.105000	0.94246	2.036000	0.60181	0.377000	0.23210	.		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	G	67591246	A	G	67591246	5	3	168	1	0	0	0	0	0	0	1	0	11918	202	7	4	1924	4	PIK3R1	5	67591246	Splice_Site	SNP	A	TCGA-19-5955-01A-11D-1696-08		67591246	113324014	32	11929											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709074	101709074	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttacaagtcagtttcttcTtttttcttaacttttggatt	8	22	5	6	0	4	0	1	0	3	0	4	1	4	1	0	1	2	2	0	1	3	10	rs146381310	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:101709074T>C	ENST00000506729.1	-	13	2313	c.2142A>G	c.(2140-2142)aaA>aaG	p.K714K	SLCO6A1_ENST00000379807.3_Silent_p.K714K|SLCO6A1_ENST00000513675.1_Silent_p.K461K|SLCO6A1_ENST00000379810.1_Silent_p.K461K|SLCO6A1_ENST00000389019.3_Silent_p.K652K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	714						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGTTTCTTCTTTTTTCTTAA	0.274													T|||	2	0.000399361	0	0	5008	,	,		12766	0		0.002	False		,,,				2504	0					uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2140-2142)aaA>aaG		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.		T		6,4398	11.4+/-27.6	0,6,2196	126	130	129		2142	-6.7	0	5	dbSNP_134	129	11,8585	7.1+/-27.0	0,11,4287	no	coding-synonymous	SLCO6A1	NM_173488.3		0,17,6483	CC,CT,TT		0.128,0.1362,0.1308		714/720	101709074	17,12983	2202	4298	6500	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101709074T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2142A>G	5.37:g.101709074T>C						SLCO6A1_uc003kno.3_Silent_p.K461K|SLCO6A1_uc003knp.3_Silent_p.K714K|SLCO6A1_uc003knq.3_Silent_p.K652K	p.K714K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	12	2314	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	714					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.2142A>G	CCDS34206.1																																																																																				0.274	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		C	101709074	T	C	101709074	2	2	168	1	0	0	0	0	0	0	0	1	14732	1606	56	4		4	SLCO6A1	5	101709074	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	34117828	101709074	79206186	33	11930											
PCDHA11	56138	broad.mit.edu	37	chr5	140249928	140249928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcgccctggacCgcgagaacgtgtgggcctat	7	7	15	12	4	0	1	0	0	0	1	0	4	0	3	3	3	3	1	3	3	2	1	rs375366430		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140249928C>A	ENST00000398640.2	+	1	1240	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAACGT	0.627																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1240-1242)Cgc>Agc		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.							156	153	154					5																	140249928		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140249928C>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1240C>A	5.37:g.140249928C>A	ENSP00000381636:p.Arg414Ser					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R414S	p.R414S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2098	+			429			Cadherin 4.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1240C>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451941	0.43531	.	.	ENSG00000249158	ENST00000398640	T	0.59638	0.25	5.7	3.89	0.44902	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84156	0.5410	H	0.97340	3.985	0.29594	N	0.848171	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.83718	0.0191	9	0.87932	D	0	.	14.6492	0.68784	0.266:0.734:0.0:0.0	.	414;414	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	414	ENSP00000381636:R414S	ENSP00000381636:R414S	R	+	1	0	PCDHA11	140230112	0.493000	0.26035	0.975000	0.42487	0.244000	0.25665	0.739000	0.26173	0.714000	0.32081	0.563000	0.77884	CGC		0.627	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140249928	C	A	140249928	3	1	168	1	0	0	0	0	1	0	0	0	11521	652	23	5	1242	5	PCDHA11	5	140249928	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	38540854	140249928	40665332	34	11931											
PCDHA11	56138	broad.mit.edu	37	chr5	140250294	140250294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacagttccaggtgagcGcgcgcgatgcgggcgtgccg	5	7	17	12	7	0	1	0	1	0	0	1	2	1	1	2	2	5	2	2	2	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140250294G>A	ENST00000398640.2	+	1	1606	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGATGC	0.672																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1606-1608)Gcg>Acg		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.							66	74	71					5																	140250294		2202	4298	6500	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140250294G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1606G>A	5.37:g.140250294G>A	ENSP00000381636:p.Ala536Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A536T	p.A536T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2464	+			551			Cadherin 5.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1606G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782481	0.90282	.	.	ENSG00000249158	ENST00000398640	T	0.75589	-0.95	5.15	5.15	0.70609	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91503	0.7317	H	0.97315	3.98	0.48901	D	0.999725	D;D	0.89917	1.0;1.0	D;D	0.85130	0.93;0.997	D	0.94546	0.7749	9	0.87932	D	0	.	18.2779	0.90089	0.0:0.0:1.0:0.0	.	536;536	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	536	ENSP00000381636:A536T	ENSP00000381636:A536T	A	+	1	0	PCDHA11	140230478	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	9.178000	0.94855	2.398000	0.81561	0.556000	0.70494	GCG		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140250294	G	A	140250294	3	1	168	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1608	1	PCDHA11	5	140250294	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	366	140250294	40664966	35	11932											
PCDHB7	56129	broad.mit.edu	37	chr5	140553185	140553185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcccgaaaatagccccGttggttccatggttgtctcc	7	11	11	12	2	1	0	0	0	1	0	3	1	2	0	5	3	2	3	5	3	3	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140553185G>A	ENST00000231137.3	+	1	943	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCCCCGTTGGTTCCAT	0.502																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(769-771)Gtt>Att		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							68	73	71					5																	140553185		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553185G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.769G>A	5.37:g.140553185G>A	ENSP00000231137:p.Val257Ile						p.V257I	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	943	+			257			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.769G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.861739	0.00552	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52754	0.65	4.61	-3.51	0.04696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26593	0.0650	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.24701	0.055	T	0.25328	-1.0135	9	0.24483	T	0.36	.	13.4977	0.61436	0.658:0.0:0.342:0.0	.	257	Q9Y5E2	PCDB7_HUMAN	I	257;40	ENSP00000231137:V257I	ENSP00000231137:V257I	V	+	1	0	PCDHB7	140533369	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.746000	0.00795	-0.796000	0.04456	-0.345000	0.07892	GTT		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553185	G	A	140553185	3	1	168	1	0	0	0	0	1	0	0	0	11547	1145	40	1	771	1	PCDHB7	5	140553185	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	302891	140553185	40362075	36	11933											
PCDHB14	56122	broad.mit.edu	37	chr5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggaaatcgagaactttcGaaatagctttggacttaaca	14	10	11	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	1	0	3	5	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140605446G>A	ENST00000239449.4	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	790					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.3																			0		p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2368-2370)cGa>cAa		Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.							65	72	70					5																	140605446		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605446G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2369G>A	5.37:g.140605446G>A	ENSP00000239449:p.Arg790Gln						p.R790Q	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2369	+			790					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2369G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	11.35	1.613348	0.28712	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.13196	2.61;2.61	4.3	3.41	0.39046	.	.	.	.	.	T	0.13927	0.0337	L	0.59436	1.845	0.09310	N	1	B	0.20988	0.05	B	0.11329	0.006	T	0.18209	-1.0344	9	0.38643	T	0.18	.	7.2492	0.26140	0.0949:0.1742:0.7309:0.0	.	790	Q9Y5E9	PCDBE_HUMAN	Q	637;790	ENSP00000444518:R637Q;ENSP00000239449:R790Q	ENSP00000239449:R790Q	R	+	2	0	PCDHB14	140585630	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	-0.484000	0.06528	0.892000	0.36259	0.585000	0.79938	CGA		0.348	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140605446	G	A	140605446	3	1	168	1	0	0	0	0	1	0	0	0	11539	1058	37	2	2371	2	PCDHB14	5	140605446	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	52261	140605446	40309814	37	11934											
BTBD9	114781	broad.mit.edu	37	chr6	38256068	38256068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtattgacccaatcatgtaCggttgtgccaactgaaccac	11	10	8	12	2	1	2	1	2	0	0	1	2	1	2	3	1	4	3	3	1	5	4	rs181693343		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:38256068C>T	ENST00000481247.1	-	8	1585	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	BTBD9_ENST00000403056.1_Silent_p.P478P|BTBD9_ENST00000408958.1_Silent_p.P410P|BTBD9_ENST00000314100.6_Silent_p.P410P|BTBD9_ENST00000419706.2_Silent_p.P448P	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	478					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAATCATGTACGGTTGTGCCA	0.398													C|||	1	0.000199681	0	0.0014	5008	,	,		21399	0		0	False		,,,				2504	0					uc003ooa.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1432-1434)ccG>ccA		Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.							115	112	113					6																	38256068		2110	4237	6347	SO:0001819	synonymous_variant	114781				cell adhesion			g.chr6:38256068C>T		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1434G>A	6.37:g.38256068C>T						BTBD9_uc010jwv.3_Silent_p.P448P|BTBD9_uc003ony.4_Silent_p.P410P|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.P478P	p.P478P	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN			8	2010	-			478					Q494V9|Q494W1|Q96M00	Silent	SNP	ENST00000481247.1	37	c.1434G>A	CCDS47418.1																																																																																				0.398	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		T	38256068	C	T	38256068	2	4	168	1	0	0	0	0	0	0	0	1	1548	523	19	1		1	BTBD9	6	38256068	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		38256068	132858999	38	11935											
PKHD1	5314	broad.mit.edu	37	chr6	51524416	51524416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgtgggggctctggAgctcatggtagaatacagcc	11	7	15	8	1	2	3	1	0	1	3	2	4	2	4	1	4	3	3	1	4	4	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:51524416A>G	ENST00000371117.3	-	61	10783	c.10508T>C	c.(10507-10509)cTc>cCc	p.L3503P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3503					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGGCTCTGGAGCTCATGGTA	0.438																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10507-10509)cTc>cCc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							64	64	64					6																	51524416		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524416A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10508T>C	6.37:g.51524416A>G	ENSP00000360158:p.Leu3503Pro						p.L3503P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			60	10784	-	Lung NSC(77;0.0605)		3503					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10508T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946554	0.34377	.	.	ENSG00000170927	ENST00000371117	D	0.84944	-1.92	5.72	3.38	0.38709	.	0.282420	0.29616	N	0.011657	T	0.50480	0.1618	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.50092	-0.8868	10	0.33940	T	0.23	.	5.6271	0.17488	0.6643:0.0:0.3357:0.0	.	3503	P08F94	PKHD1_HUMAN	P	3503	ENSP00000360158:L3503P	ENSP00000360158:L3503P	L	-	2	0	PKHD1	51632375	0.992000	0.36948	0.997000	0.53966	0.895000	0.52256	2.569000	0.45973	1.005000	0.39183	0.533000	0.62120	CTC		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51524416	A	G	51524416	3	3	168	1	0	0	0	0	1	0	0	0	11971	304	11	4	1744	4	PKHD1	6	51524416	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	13268348	51524416	119590651	39	11936											
DOPEY1	23033	broad.mit.edu	37	chr6	83847935	83847935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgccatcaaagccatcTtgaaaactaaccctatagct	13	11	4	13	0	3	1	1	1	2	0	4	1	3	1	3	0	5	1	3	0	6	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:83847935T>C	ENST00000349129.2	+	21	4434	c.4174T>C	c.(4174-4176)Ttg>Ctg	p.L1392L	DOPEY1_ENST00000369739.3_Silent_p.L1383L|DOPEY1_ENST00000237163.5_Silent_p.L1373L|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1392					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAGCCATCTTGAAAACTAA	0.383																																						uc011dyy.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4147-4149)Ttg>Ctg		Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.							130	137	135					6																	83847935		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83847935T>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4174T>C	6.37:g.83847935T>C						DOPEY1_uc003pjs.1_Silent_p.L1392L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.3_Non-coding_Transcript	p.L1383L	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	20	4407	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1392					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.4147T>C	CCDS4996.1																																																																																				0.383	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		C	83847935	T	C	83847935	2	2	168	1	0	0	0	0	0	0	0	1	4707	1606	56	4		4	DOPEY1	6	83847935	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	32323519	83847935	87267132	40	11937											
IKZF1	10320	broad.mit.edu	37	chr7	50468241	50468241	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtgatccttttgagtgCaacatgtgcggctaccacag	8	12	10	11	2	0	2	0	2	0	0	2	2	2	2	3	1	4	2	3	1	2	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:50468241C>A	ENST00000331340.3	+	8	1631	c.1476C>A	c.(1474-1476)tgC>tgA	p.C492*	IKZF1_ENST00000439701.1_Nonsense_Mutation_p.C450*|IKZF1_ENST00000357364.4_Nonsense_Mutation_p.C405*|IKZF1_ENST00000359197.5_Nonsense_Mutation_p.C450*|IKZF1_ENST00000346667.4_Nonsense_Mutation_p.C262*|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.C405*|IKZF1_ENST00000349824.4_Nonsense_Mutation_p.C349*|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.C405*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	492					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTTTTGAGTGCAACATGTGCG	0.592			"D,T"	BCL6	"ALL, DLBCL"																																	uc003tow.4				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1474-1476)tgC>tgA		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							47	53	51					7																	50468241		2191	4297	6488	SO:0001587	stop_gained	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468241C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1476C>A	7.37:g.50468241C>A	ENSP00000331614:p.Cys492*					IKZF1_uc022acq.1_Nonsense_Mutation_p.C349*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.C257*|IKZF1_uc022acr.1_Nonsense_Mutation_p.C267*|IKZF1_uc022acs.1_Nonsense_Mutation_p.C222*|IKZF1_uc022act.1_Nonsense_Mutation_p.C395*|IKZF1_uc022acu.1_Nonsense_Mutation_p.C405*|IKZF1_uc003tox.4_Nonsense_Mutation_p.C450*|IKZF1_uc022acv.1_Nonsense_Mutation_p.C353*|IKZF1_uc022acw.1_Nonsense_Mutation_p.C363*|IKZF1_uc022acx.1_Nonsense_Mutation_p.C405*|IKZF1_uc022acy.1_Nonsense_Mutation_p.C299*|IKZF1_uc022acz.1_Nonsense_Mutation_p.C309*|IKZF1_uc011kck.2_Nonsense_Mutation_p.C405*|IKZF1_uc003toy.4_Nonsense_Mutation_p.C450*|IKZF1_uc003toz.4_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.C232*	p.C492*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1631	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	492					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	37	c.1476C>A		.	.	.	.	.	.	.	.	.	.	C	36	5.886240	0.97068	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	.	.	.	5.75	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.0926	9.7089	0.40233	0.0:0.7766:0.0:0.2234	.	.	.	.	X	262;405;450;349;405;492;405;450	.	ENSP00000331614:C492X	C	+	3	2	IKZF1	50435735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.161000	0.42358	0.759000	0.33084	0.655000	0.94253	TGC		0.592	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		A	50468241	C	A	50468241	4	1	168	1	0	0	0	0	0	1	0	0	7614	718	25	5	1502	5	IKZF1	7	50468241	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		50468241	108670422	41	11938											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97944874	97944874	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctctttgcaaccatcTgcaatgaatttctggatttc	10	14	7	10	0	3	2	0	1	3	1	4	3	3	3	2	1	4	2	2	1	3	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:97944874T>C	ENST00000005260.8	-	7	752	c.537A>G	c.(535-537)gcA>gcG	p.A179A	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	179	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAACCATCTGCAATGAATT	0.358																																						uc003upj.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(535-537)gcA>gcG		Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.							110	110	110					7																	97944874		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97944874T>C	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.537A>G	7.37:g.97944874T>C							p.A179A	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	800	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		179			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.537A>G	CCDS34687.1																																																																																				0.358	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		C	97944874	T	C	97944874	2	2	168	1	0	0	0	0	0	0	0	1	1302	1567	55	4		4	BAIAP2L1	7	97944874	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	47476633	97944874	61193789	42	11939											
CLDN15	24146	broad.mit.edu	37	chr7	100877603	100877603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtggccgccagcttggctTtcctggagagctccaggccc	4	8	14	15	2	0	1	0	0	0	1	2	2	2	1	5	5	2	3	5	5	0	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:100877603T>C	ENST00000401528.1	-	3	1463	c.338A>G	c.(337-339)aAa>aGa	p.K113R	CLDN15_ENST00000308344.5_Missense_Mutation_p.K113R|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	113					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGCTTGGCTTTCCTGGAGAG	0.662																																						uc003uyg.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(337-339)aAa>aGa		Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.							51	58	56					7																	100877603		2203	4300	6503	SO:0001583	missense	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100877603T>C	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.338A>G	7.37:g.100877603T>C	ENSP00000385300:p.Lys113Arg					CLDN15_uc003uyh.2_Missense_Mutation_p.K113R|CLDN15_uc003uyi.3_3'UTR|CLDN15_uc022aja.1_3'UTR	p.K113R	NM_014343	NP_001172009	P56746	CLD15_HUMAN			1	703	-	Lung NSC(181;0.168)|all_lung(186;0.215)		113					B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	c.338A>G	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138812	0.77775	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000412417	D;D;T	0.88509	-2.39;-2.39;-0.26	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.89478	3.035	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.95708	0.8755	10	0.87932	D	0	.	13.5331	0.61633	0.0:0.0:0.0:1.0	.	113	P56746	CLD15_HUMAN	R	113;113;90	ENSP00000308870:K113R;ENSP00000385300:K113R;ENSP00000390230:K90R	ENSP00000308870:K113R	K	-	2	0	CLDN15	100664323	1.000000	0.71417	0.989000	0.46669	0.289000	0.27227	7.037000	0.76531	2.074000	0.62210	0.459000	0.35465	AAA		0.662	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		C	100877603	T	C	100877603	3	2	168	1	0	0	0	0	1	0	0	0	3476	1841	64	4	364	4	CLDN15	7	100877603	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	2932729	100877603	58261060	43	11940											
GRM8	2918	broad.mit.edu	37	chr7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccatcaatggtactcattCgtggacaaaggccaatgtat	12	11	8	10	1	2	0	2	0	0	0	4	1	3	1	2	3	1	2	2	3	5	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1297-1299)cGa>cAa		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						142	129	134					7																	126409978		2203	4299	6502	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409978C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1298G>A	7.37:g.126409978C>T	ENSP00000344173:p.Arg433Gln	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	p.R433Q	NM_000845	NP_000836	O00222	GRM8_HUMAN			5	1609	-		Prostate(267;0.186)	433					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1298G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848477	0.51164	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	N	0.12471	0.22	0.50632	D	0.999884	B;B;B	0.20550	0.046;0.024;0.013	B;B;B	0.22601	0.04;0.004;0.028	T	0.72047	-0.4408	10	0.21540	T	0.41	.	18.9751	0.92733	0.0:1.0:0.0:0.0	.	433;433;433	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Q	433	ENSP00000344173:R433Q;ENSP00000409790:R433Q;ENSP00000351142:R433Q;ENSP00000385731:R433Q	ENSP00000344173:R433Q	R	-	2	0	GRM8	126197214	0.157000	0.22836	1.000000	0.80357	0.995000	0.86356	2.604000	0.46274	2.708000	0.92522	0.650000	0.86243	CGA		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126409978	C	T	126409978	3	4	168	1	0	0	0	0	1	0	0	0	6803	884	31	2	1498	2	GRM8	7	126409978	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	25532375	126409978	32728685	44	11941											
STC1	6781	broad.mit.edu	37	chr8	23702306	23702306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcactctcatgggatgtgcGtttgatgtgggagggagagt	7	12	17	5	1	1	2	1	1	1	1	2	5	1	4	0	3	2	2	0	3	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:23702306G>A	ENST00000290271.2	-	4	1004	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	STC1_ENST00000524323.1_Missense_Mutation_p.R172C	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	241					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGGATGTGCGTTTGATGTGG	0.507																																						uc003xdw.1																			0		p.R241H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(721-723)Cgc>Tgc		Homo sapiens stanniocalcin 1 (STC1), mRNA.							111	94	100					8																	23702306		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702306G>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.721C>T	8.37:g.23702306G>A	ENSP00000290271:p.Arg241Cys						p.R241C	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	1005	-		Prostate(55;0.055)|Breast(100;0.116)	241					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.721C>T	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424249	0.43020	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.98	4.12	0.48240	.	0.210191	0.49916	D	0.000127	T	0.29620	0.0739	N	0.19112	0.55	0.49213	D	0.999761	D	0.56968	0.978	B	0.38296	0.27	T	0.20174	-1.0283	9	0.87932	D	0	-0.8003	10.8438	0.46730	0.0:0.1406:0.7132:0.1462	.	241	P52823	STC1_HUMAN	C	241;172;172	.	ENSP00000290271:R241C	R	-	1	0	STC1	23758251	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.034000	0.57289	1.515000	0.48885	-0.188000	0.12872	CGC		0.507	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			A	23702306	G	A	23702306	3	1	168	1	0	0	0	0	1	0	0	0	15274	1145	40	1	26	1	STC1	8	23702306	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		23702306	122661716	45	11942											
EBF2	64641	broad.mit.edu	37	chr8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcaatgtctgcggctcGcttcaaaatgatgtcctaca	10	12	8	11	2	3	1	2	1	1	0	5	1	4	1	1	1	3	3	1	1	4	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:25718727G>A	ENST00000520164.1	-	13	1717	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	EBF2_ENST00000535548.1_Nonsense_Mutation_p.R125*|EBF2_ENST00000408929.3_Nonsense_Mutation_p.R246*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	394					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1180-1182)Cga>Tga		Homo sapiens early B-cell factor 2 (EBF2), mRNA.							115	121	119					8																	25718727		1993	4171	6164	SO:0001587	stop_gained	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25718727G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1180C>T	8.37:g.25718727G>A	ENSP00000430241:p.Arg394*					DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	p.R394*	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	12	1445	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	394					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	c.1180C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	40	8.006618	0.98607	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3669	12.9768	0.58542	0.0:0.0:0.7173:0.2827	.	.	.	.	X	394;246;125	.	ENSP00000386178:R246X	R	-	1	2	EBF2	25774644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.032000	0.49736	2.587000	0.87381	0.655000	0.94253	CGA		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25718727	G	A	25718727	4	1	168	1	0	0	0	0	0	1	0	0	4881	1095	38	1	563	1	EBF2	8	25718727	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	2016421	25718727	120645295	46	11943											
LYN	4067	broad.mit.edu	37	chr8	56866431	56866431	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagattggagaaggcttgTattagtcccaagccacagaa	15	8	11	7	0	0	4	0	0	0	4	1	5	1	4	2	2	1	2	2	2	6	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:56866431T>C	ENST00000519728.1	+	8	974	c.678T>C	c.(676-678)tgT>tgC	p.C226C	LYN_ENST00000520220.2_Silent_p.C205C	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	226	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	AGAAGGCTTGTATTAGTCCCA	0.478																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(676-678)tgT>tgC		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							74	77	76					8																	56866431		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866431T>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.678T>C	8.37:g.56866431T>C						LYN_uc003xsl.4_Silent_p.C205C	p.C226C	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	960	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	226			SH2.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.678T>C	CCDS6162.1																																																																																				0.478	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		C	56866431	T	C	56866431	2	2	168	1	0	0	0	0	0	0	0	1	9107	1644	57	4		4	LYN	8	56866431	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	31147704	56866431	89497591	47	11944											
PRDM14	63978	broad.mit.edu	37	chr8	70980585	70980585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacacaccaaaatgTgggacttcaccaaacaccgt	15	6	7	13	1	1	1	1	0	0	1	1	2	1	2	3	1	3	1	3	1	4	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:70980585T>C	ENST00000276594.2	-	4	993	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	264	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACCAAAATGTGGGACTTCAC	0.488																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.3																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(790-792)ccA>ccG		Homo sapiens PR domain containing 14 (PRDM14), mRNA.							91	84	86					8																	70980585		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70980585T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.792A>G	8.37:g.70980585T>C							p.P264P	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		3	994	-	Breast(64;0.193)		264			SET.		Q86UX9	Silent	SNP	ENST00000276594.2	37	c.792A>G	CCDS6206.1																																																																																				0.488	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			C	70980585	T	C	70980585	2	2	168	1	0	0	0	0	0	0	0	1	12455	1683	59	4		4	PRDM14	8	70980585	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	14114154	70980585	75383437	48	11945											
PABPC1	26986	broad.mit.edu	37	chr8	101730507	101730507	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtccaaagcacgctcCgctgcaggaaggacattttc	10	9	11	11	2	0	0	0	0	0	0	3	2	2	2	2	3	2	4	2	3	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:101730507C>T	ENST00000318607.5	-	2	1323	c.195G>A	c.(193-195)gcG>gcA	p.A65A	PABPC1_ENST00000522387.1_Splice_Site_p.A65A|PABPC1_ENST00000519004.1_Splice_Site_p.A20A|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGCACGCTCCGCTGCAGGAA	0.433																																						uc003yjs.1																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.e2-1		Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.							38	35	36					8																	101730507		2203	4300	6503	SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101730507C>T	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.194-1G>A	8.37:g.101730507C>T						PABPC1_uc011lhc.1_Splice_Site_p.A65_splice|PABPC1_uc011lhd.1_Splice_Site_p.A20_splice|PABPC1_uc003yjt.1_Splice_Site_p.A65_splice|PABPC1_uc003yju.2_Splice_Site	p.A65_splice	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		2	698	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		65			RRM 1.		Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.194_splice	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351171	0.41700	.	.	ENSG00000070756	ENST00000523555	.	.	.	5.37	4.44	0.53790	.	.	.	.	.	T	0.64472	0.2601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	.	13.1071	0.59253	0.2806:0.7194:0.0:0.0	.	.	.	.	R	60	.	.	G	-	1	0	PABPC1	101799683	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.621000	0.46418	2.683000	0.91414	0.650000	0.86243	GGA		0.433	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	Silent	T	101730507	C	T	101730507	5	4	168	1	0	0	0	0	0	0	1	0	11363	666	23	2	1767	2	PABPC1	8	101730507	Splice_Site	SNP	C	TCGA-19-5955-01A-11D-1696-08	30749922	101730507	44633515	49	11946											
RIMS2	9699	broad.mit.edu	37	chr8	104778688	104778688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaaaagtcgatctcaTgggctcacaagacagcattc	13	8	11	9	1	2	2	2	0	1	2	5	4	2	2	0	2	1	2	0	2	3	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:104778688T>C	ENST00000406091.3	+	3	621	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	238					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGATCTCATGGGCTCACAA	0.443										HNSCC(12;0.0054)																												uc003ylp.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(619-621)caT>caC		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.							106	102	103					8																	104778688		1943	4150	6093	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104778688T>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.621T>C	8.37:g.104778688T>C		HNSCC(12;0.0054)					p.H207H	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	760	+			238					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	c.621T>C	CCDS55269.1																																																																																				0.443	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		C	104778688	T	C	104778688	2	2	168	1	0	0	0	0	0	0	0	1	13368	1461	51	4		4	RIMS2	8	104778688	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	3048181	104778688	41585334	50	11947											
FREM1	158326	broad.mit.edu	37	chr9	14775892	14775892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagtcagtctgggagtcCcctcctgagtgccgataggc	8	8	13	12	1	2	1	1	1	1	0	4	3	4	2	4	2	2	1	4	2	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:14775892C>T	ENST00000380880.3	-	25	5535	c.4752G>A	c.(4750-4752)ggG>ggA	p.G1584G	FREM1_ENST00000380894.1_Silent_p.G120G|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.G1584G|FREM1_ENST00000380881.4_Silent_p.G1585G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1584					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4750-4752)ggG>ggA		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							144	138	140					9																	14775892		1996	4177	6173	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14775892C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4752G>A	9.37:g.14775892C>T						FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G	p.G1584G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5568	-			1584					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4752G>A	CCDS47952.1																																																																																				0.512	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		T	14775892	C	T	14775892	2	4	168	1	0	0	0	0	0	0	0	1	6044	610	22	3		3	FREM1	9	14775892	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		14775892	126437539	51	11948											
RRAGA	54801	broad.mit.edu	37	chr9	19050342	19050342	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgcgacgtccaccggtttGagaagatcagcaacatcatc	12	7	10	12	4	2	2	2	1	0	2	4	4	3	2	2	1	3	2	2	1	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:19050342G>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.E229K	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCACCGGTTTGAGAAGATCAG	0.473																																						uc003znj.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(685-687)Gag>Aag		Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.							139	121	127					9																	19050342		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050342G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050342G>A							p.E229K	NM_006570	NP_006561	Q7L523	RRAGA_HUMAN			0	971	+			229	E -> G (in Ref. 2; AAB63255).				B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.685G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742254	0.89573	.	.	ENSG00000155876	ENST00000380527	T	0.72505	-0.66	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91146	0.4949	10	0.87932	D	0	-23.2405	16.0155	0.80434	0.0:0.0:1.0:0.0	.	229	Q7L523	RRAGA_HUMAN	K	229	ENSP00000369899:E229K	ENSP00000369899:E229K	E	+	1	0	RRAGA	19040342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.188000	0.77739	2.735000	0.93741	0.655000	0.94253	GAG		0.473	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		A	19050342	G	A	19050342	1	1	168	0	1	0	0	0	0	0	0	0	13672	1291	45	3		3	RRAGA	9	19050342	IGR	SNP	G	TCGA-19-5955-01A-11D-1696-08	4274450	19050342	122163089	52	11949											
TAF1L	138474	broad.mit.edu	37	chr9	32632340	32632340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacattcctctttgtaacGctcttgatgctcagccacag	8	13	7	13	1	3	2	1	2	2	0	4	2	4	2	2	0	3	3	2	0	1	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:32632340G>A	ENST00000242310.4	-	1	3327	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1080					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1080S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTTGTAACGCTCTTGATGC	0.473																																						uc003zrg.1																			1	Substitution - Missense(1)	p.R1080S(2)|p.R1080H(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3238-3240)Cgt>Tgt		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							179	168	172					9																	32632340		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632340G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3238C>T	9.37:g.32632340G>A	ENSP00000418379:p.Arg1080Cys					AX747113_uc003zrh.1_5'Flank	p.R1080C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	3328	-			1080					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3238C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134261	0.37630	.	.	ENSG00000122728	ENST00000242310	T	0.18657	2.2	0.479	0.479	0.16796	.	0.047970	0.85682	D	0.000000	T	0.13628	0.0330	L	0.55481	1.735	0.80722	D	1	P	0.34780	0.468	B	0.24394	0.053	T	0.08249	-1.0731	10	0.87932	D	0	.	3.4488	0.07490	1.0E-4:1.0E-4:0.5509:0.449	.	1080	Q8IZX4	TAF1L_HUMAN	C	1080	ENSP00000418379:R1080C	ENSP00000418379:R1080C	R	-	1	0	TAF1L	32622340	1.000000	0.71417	0.981000	0.43875	0.701000	0.40568	1.327000	0.33746	0.507000	0.28148	0.195000	0.17529	CGT		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32632340	G	A	32632340	3	1	168	1	0	0	0	0	1	0	0	0	15520	1087	38	1	2246	1	TAF1L	9	32632340	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	13581998	32632340	108581091	53	11950											
FGD3	89846	broad.mit.edu	37	chr9	95738835	95738835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagggcttggaggctggCccaagccccactgtactggg	7	6	17	11	0	0	0	0	0	0	0	0	3	0	2	3	6	2	3	3	6	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:95738835C>T	ENST00000375482.3	+	3	793	c.297C>T	c.(295-297)ggC>ggT	p.G99G	FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.G99G|FGD3_ENST00000337352.6_Silent_p.G99G	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	99					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGGAGGCTGGCCCAAGCCCCA	0.657																																						uc004asz.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(295-297)ggC>ggT		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.							20	27	24					9																	95738835		2013	4168	6181	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738835C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.297C>T	9.37:g.95738835C>T						FGD3_uc004asw.2_Silent_p.G99G|FGD3_uc004asx.2_Silent_p.G99G	p.G99G	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN			2	825	+			99					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.297C>T	CCDS43849.1																																																																																				0.657	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		T	95738835	C	T	95738835	2	4	168	1	0	0	0	0	0	0	0	1	5834	726	26	3		3	FGD3	9	95738835	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	63106495	95738835	45474596	54	11951											
ASTN2	23245	broad.mit.edu	37	chr9	119488220	119488220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcaggatcttgagaacaTtagtgaagcctggacaagag	13	9	13	6	0	2	3	1	2	1	2	2	6	2	5	1	3	2	0	1	3	4	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:119488220T>C	ENST00000313400.4	-	16	2736	c.2636A>G	c.(2635-2637)aAt>aGt	p.N879S	ASTN2_ENST00000361209.2_Missense_Mutation_p.N828S|ASTN2_ENST00000373996.3_Missense_Mutation_p.N875S|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	879					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTGAGAACATTAGTGAAGCC	0.542																																						uc004bjt.2																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(2482-2484)aAt>aGt		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							107	98	101					9																	119488220		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119488220T>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2636A>G	9.37:g.119488220T>C	ENSP00000314038:p.Asn879Ser					ASTN2_uc022bml.1_Missense_Mutation_p.N524S|ASTN2_uc022bmm.1_Missense_Mutation_p.N528S	p.N828S	NM_014010	NP_054729	O75129	ASTN2_HUMAN			14	2584	-			879					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.2483A>G		.	.	.	.	.	.	.	.	.	.	T	14.29	2.491252	0.44249	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.93	5.93	0.95920	Membrane attack complex component/perforin (MACPF) domain (2);	0.046101	0.85682	D	0.000000	T	0.75398	0.3844	L	0.34521	1.04	0.52501	D	0.999959	P;P;B	0.47106	0.89;0.625;0.383	B;B;B	0.39119	0.291;0.192;0.122	T	0.75578	-0.3269	9	.	.	.	-26.5629	16.3798	0.83452	0.0:0.0:0.0:1.0	.	828;879;875	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	S	879;875;602;828	ENSP00000314038:N879S;ENSP00000363108:N875S;ENSP00000363098:N602S;ENSP00000354504:N828S	.	N	-	2	0	ASTN2	118528041	1.000000	0.71417	0.993000	0.49108	0.336000	0.28762	6.272000	0.72575	2.271000	0.75665	0.533000	0.62120	AAT		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		C	119488220	T	C	119488220	3	2	168	1	0	0	0	0	1	0	0	0	1065	1493	52	4	1647	4	ASTN2	9	119488220	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	23749385	119488220	21725211	55	11952											
FCN2	2220	broad.mit.edu	37	chr9	137777089	137777089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttcccttcccaggcccGcgtacctgcaaggacctgct	5	8	11	17	3	0	0	0	0	0	0	2	1	2	1	5	3	3	4	5	3	2	3	rs369807019		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:137777089G>A	ENST00000291744.6	+	5	316	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FCN2_ENST00000350339.2_Silent_p.P64P	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	102	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCCCAGGCCCGCGTACCTGCA	0.662													G|||	1	0.000199681	0	0	5008	,	,		16065	0		0	False		,,,				2504	0.001					uc004cfg.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(304-306)ccG>ccA		Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.							56	54	55					9																	137777089		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777089G>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.306G>A	9.37:g.137777089G>A						FCN2_uc004cfh.1_Silent_p.P64P	p.P102P	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	4	316	+		Myeloproliferative disorder(178;0.0333)	102			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.306G>A	CCDS6983.1																																																																																				0.662	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		A	137777089	G	A	137777089	2	1	168	1	0	0	0	0	0	0	0	1	5792	1074	38	1		1	FCN2	9	137777089	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	18288869	137777089	3436342	56	11953											
MYO3A	53904	broad.mit.edu	37	chr10	26315330	26315330	+	Frame_Shift_Del	DEL	G	G	-																															ttgactaaagattatgaaaaGcgtccaacagtgtcagaact																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:26315330delG	ENST00000265944.5	+	10	988	c.822delG	c.(820-822)aagfs	p.K274fs	MYO3A_ENST00000543632.1_Frame_Shift_Del_p.K274fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTATGAAAAGCGTCCAACAG	0.328																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(820-822)aagfs		Homo sapiens myosin IIIA (MYO3A), mRNA.							80	77	78					10																	26315330		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26315330delG	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.822delG	10.37:g.26315330delG	ENSP00000265944:p.Lys274fs					MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	p.K274fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			9	1182	+			274			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.822delG	CCDS7148.1																																																																																				0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		-	26315330	G	-	26315330	7	5	168	1	0	1	0	1	0	0	0	0	10076	962	34	0	852	0	MYO3A	10	26315330	Frame_Shift_Del	DEL	G	TCGA-19-5955-01A-11D-1696-08		26315330	109219417	57	11954											
PTEN	5728	broad.mit.edu	37	chr10	89725130	89725130	+	Frame_Shift_Del	DEL	C	C	-																															gtaacaccagatgttagtgaCaatgaacctgatcattatag																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:89725130delC	ENST00000371953.3	+	9	2470	c.1113delC	c.(1111-1113)gacfs	p.D371fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	371					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGTTAGTGACAATGAACCTG	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		47	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(1111-1113)gacfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							33	31	32					10																	89725130		2201	4279	6480	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725130delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1113delC	10.37:g.89725130delC	ENSP00000361021:p.Asp371fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D371fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2145	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	371					B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.1113delC	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89725130	C	-	89725130	7	5	168	1	0	1	0	1	0	0	0	0	12738	477	17	0	1147	0	PTEN	10	89725130	Frame_Shift_Del	DEL	C	TCGA-19-5955-01A-11D-1696-08	63409800	89725130	45809617	58	11955											
HTR7	3363	broad.mit.edu	37	chr10	92508680	92508680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttccggttgatattcCggtactggcactggagcagg	8	10	14	9	2	0	2	0	1	0	1	2	3	2	3	2	5	3	5	2	5	2	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:92508680C>T	ENST00000336152.3	-	2	1237	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	HTR7_ENST00000371719.2_Missense_Mutation_p.R404Q|HTR7_ENST00000277874.6_Missense_Mutation_p.R404Q|HTR7_ENST00000371721.3_Missense_Mutation_p.R404Q	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	404					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTTGATATTCCGGTACTGGCA	0.507																																						uc001kha.3																			0		p.R404R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)cGg>cAg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						130	137	134					10																	92508680		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508680C>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1211G>A	10.37:g.92508680C>T	ENSP00000337949:p.Arg404Gln					HTR7_uc001kgz.3_Missense_Mutation_p.R404Q|HTR7_uc001khb.3_Missense_Mutation_p.R404Q	p.R404Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN			1	1454	-			404					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1211G>A	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088065	0.76642	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.48571	D	0.999671	P;P	0.46277	0.875;0.726	B;B	0.28991	0.097;0.079	T	0.06698	-1.0812	10	0.34782	T	0.22	.	19.4534	0.94876	0.0:1.0:0.0:0.0	.	404;404	P34969;P34969-2	5HT7R_HUMAN;.	Q	404	ENSP00000337949:R404Q;ENSP00000277874:R404Q;ENSP00000360784:R404Q;ENSP00000360786:R404Q	ENSP00000277874:R404Q	R	-	2	0	HTR7	92498660	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.484000	0.81180	2.593000	0.87608	0.650000	0.86243	CGG		0.507	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		T	92508680	C	T	92508680	3	4	168	1	0	0	0	0	1	0	0	0	7452	652	23	2	244	2	HTR7	10	92508680	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	2783550	92508680	43026067	59	11956											
OR4D10	390197	broad.mit.edu	37	chr11	59245250	59245250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtattttctctttcGgtgatggcattggatcgata	7	17	12	5	2	1	1	0	1	1	0	4	4	1	3	0	4	0	2	0	4	2	6			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:59245250G>A	ENST00000530162.1	+	1	405	c.348G>A	c.(346-348)tcG>tcA	p.S116S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTTCGGTGATGGCAT	0.473																																						uc001nnz.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(346-348)tcG>tcA		Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.							81	83	82					11																	59245250		2174	4283	6457	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245250G>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.348G>A	11.37:g.59245250G>A							p.S116S	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			0	348	+			116					B2RNH6	Silent	SNP	ENST00000530162.1	37	c.348G>A	CCDS53636.1																																																																																				0.473	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		A	59245250	G	A	59245250	2	1	168	1	0	0	0	0	0	0	0	1	11054	1103	39	2		2	OR4D10	11	59245250	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		59245250	75761266	60	11957											
ATM	472	broad.mit.edu	37	chr11	108199882	108199882	+	Frame_Shift_Del	DEL	G	G	-																															gaaaactacatgaaatcatcGgaatttgaaaacaagcaagc																								rs145747513		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:108199882delG	ENST00000452508.2	+	50	7413	c.7224delG	c.(7222-7224)tcgfs	p.S2408fs	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.S2408fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2408	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		S -> L (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGAAATCATCGGAATTTGAAA	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0		p.S2408L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7222-7224)tcgfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							76	75	75					11																	108199882		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108199882delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7224delG	11.37:g.108199882delG	ENSP00000388058:p.Ser2408fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs	p.S2408fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	48	7609	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2408		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).	FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.7224delG	CCDS31669.1																																																																																				0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		-	108199882	G	-	108199882	7	5	168	1	0	1	0	1	0	0	0	0	1109	1103	39	0	7414	0	ATM	11	108199882	Frame_Shift_Del	DEL	G	TCGA-19-5955-01A-11D-1696-08	48954632	108199882	26806634	61	11958											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354787	22354787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagaactttccaatgctaCgcagaaagttggggttggca	11	10	11	9	1	0	2	0	0	0	2	2	2	2	2	2	3	3	5	2	3	4	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:22354787C>T	ENST00000396037.4	-	5	1251	c.770G>A	c.(769-771)cGt>cAt	p.R257H	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.R114H	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	257					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCCAATGCTACGCAGAAAGTT	0.478																																						uc001rfo.4																			0		p.R257C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(769-771)cGt>cAt		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.							72	73	73					12																	22354787		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354787C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.770G>A	12.37:g.22354787C>T	ENSP00000379353:p.Arg257His					ST8SIA1_uc009zix.3_Missense_Mutation_p.R114H	p.R257H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			4	1252	-			257					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.770G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963734	0.53507	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T;T	0.34072	1.38;1.38	5.73	5.73	0.89815	.	0.158578	0.56097	D	0.000025	T	0.28962	0.0719	L	0.41824	1.3	0.53688	D	0.99997	B;P	0.41947	0.41;0.766	B;B	0.32211	0.033;0.142	T	0.05321	-1.0892	10	0.18710	T	0.47	-10.8842	20.2602	0.98440	0.0:1.0:0.0:0.0	.	114;257	G3V1U7;Q92185	.;SIA8A_HUMAN	H	257;114	ENSP00000379353:R257H;ENSP00000446363:R114H	ENSP00000379353:R257H	R	-	2	0	ST8SIA1	22246054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.894000	0.48640	2.861000	0.98227	0.655000	0.94253	CGT		0.478	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		T	22354787	C	T	22354787	3	4	168	1	0	0	0	0	1	0	0	0	15230	536	19	1	304	1	ST8SIA1	12	22354787	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		22354787	111497108	62	11959											
SRGAP1	57522	broad.mit.edu	37	chr12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagagggcgcttcacatccGcaaactcctcctgactttgc	8	10	9	14	2	1	2	1	2	0	1	4	3	4	2	3	1	2	2	3	1	1	2	rs201404379		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463																																						uc010ssp.1																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1849-1851)cGc>cAc		Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.		G	HIS/ARG	0,4406		0,0,2203	150	131	137		1850	4.3	1	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502748G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His					SRGAP1_uc001srv.2_Missense_Mutation_p.R554H	p.R617H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	1906	+			617			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1850G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			A	64502748	G	A	64502748	3	1	168	1	0	0	0	0	1	0	0	0	15144	1087	38	1	1912	1	SRGAP1	12	64502748	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	42147961	64502748	69349147	63	11960											
GRIP1	23426	broad.mit.edu	37	chr12	66765507	66765507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggagttggagacatgatCtcctttatttcttgtttcat	9	17	8	7	0	3	2	1	1	2	1	4	4	3	3	1	2	0	2	1	2	1	6			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:66765507C>T	ENST00000398016.3	-	22	2891	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	GRIP1_ENST00000286445.7_Silent_p.E978E|GRIP1_ENST00000359742.4_Silent_p.E993E	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAGACATGATCTCCTTTATTT	0.493																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2821-2823)gaG>gaA		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							160	164	163					12																	66765507		1960	4153	6113	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66765507C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2823G>A	12.37:g.66765507C>T						GRIP1_uc010sta.1_Silent_p.E885E|GRIP1_uc001stj.3_Silent_p.E708E|GRIP1_uc001stm.3_Silent_p.E926E|GRIP1_uc001stl.1_Silent_p.E818E	p.E941E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	21	3064	-			993					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.2823G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.197524	0.01594	.	.	ENSG00000155974	ENST00000538164	.	.	.	6.13	4.24	0.50183	.	.	.	.	.	T	0.49047	0.1534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-18.5136	4.2564	0.10719	0.1422:0.4126:0.354:0.0912	.	.	.	.	K	793	.	.	R	-	2	0	GRIP1	65051774	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	1.204000	0.32296	0.847000	0.35167	0.650000	0.86243	AGA		0.493	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66765507	C	T	66765507	2	4	168	1	0	0	0	0	0	0	0	1	6787	912	32	3		3	GRIP1	12	66765507	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	2262759	66765507	67086388	64	11961											
C12orf43	64897	broad.mit.edu	37	chr12	121444130	121444130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtataaccactcaccatcatCctccaaagcgactttctgta	12	11	4	14	1	3	0	2	0	1	0	5	1	5	0	4	0	2	2	4	0	4	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:121444130C>T	ENST00000288757.3	-	4	377	c.355G>A	c.(355-357)Gat>Aat	p.D119N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000445832.3_Missense_Mutation_p.D89N|C12orf43_ENST00000539736.1_Missense_Mutation_p.D119N|C12orf43_ENST00000366211.2_Missense_Mutation_p.D77N|C12orf43_ENST00000537817.1_Missense_Mutation_p.D120N	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	119										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCATCATCCTCCAAAGCG	0.403																																						uc009zxa.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(448-450)Gat>Aat		Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.							175	142	153					12																	121444130		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121444130C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.355G>A	12.37:g.121444130C>T	ENSP00000288757:p.Asp119Asn					C12orf43_uc001tzh.1_Missense_Mutation_p.D119N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	p.D150N	NM_022895	NP_075046	Q96C57	CL043_HUMAN			3	471	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		119			Poly-Ser.		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.448G>A	CCDS9210.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361603	0.61403	.	.	ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	T;T;T;T;T	0.56941	0.45;0.43;0.46;0.75;0.49	5.32	5.32	0.75619	.	0.141947	0.64402	D	0.000008	T	0.71467	0.3343	M	0.70275	2.135	0.33627	D	0.605487	D;D;P;D;B	0.89917	0.999;1.0;0.763;0.999;0.328	D;D;B;D;B	0.71656	0.974;0.974;0.308;0.933;0.232	T	0.78999	-0.1982	10	0.72032	D	0.01	-11.3074	17.0765	0.86588	0.0:1.0:0.0:0.0	.	119;77;120;119;119	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.;.;.;.;CL043_HUMAN	N	89;119;120;77;119;56;73	ENSP00000409788:D89N;ENSP00000288757:D119N;ENSP00000442224:D120N;ENSP00000437803:D119N;ENSP00000442041:D56N	ENSP00000288757:D119N	D	-	1	0	C12orf43	119928513	0.999000	0.42202	0.974000	0.42286	0.146000	0.21551	4.274000	0.58921	2.886000	0.99085	0.650000	0.86243	GAT		0.403	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		T	121444130	C	T	121444130	3	4	168	1	0	0	0	0	1	0	0	0	1689	855	30	3	445	3	C12orf43	12	121444130	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	54678623	121444130	12407765	65	11962											
RNF17	56163	broad.mit.edu	37	chr13	25419167	25419167	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaaacttgaagaaaaTctaaagacaatgggaagact	21	8	8	4	0	1	5	0	1	1	4	1	6	1	6	0	1	1	0	0	1	10	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr13:25419167T>A	ENST00000255324.5	+	22	3103	c.3051T>A	c.(3049-3051)aaT>aaA	p.N1017K	RNF17_ENST00000339524.3_Missense_Mutation_p.N69K|RNF17_ENST00000381921.1_Missense_Mutation_p.N1017K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1017	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGAAGAAAATCTAAAGACAA	0.308																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3049-3051)aaT>aaA		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							119	132	127					13																	25419167		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25419167T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3051T>A	13.37:g.25419167T>A	ENSP00000255324:p.Asn1017Lys					RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010tde.2_Missense_Mutation_p.N1017K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N956K|RNF17_uc010aac.3_Missense_Mutation_p.N215K|RNF17_uc010aad.3_Missense_Mutation_p.N69K	p.N1017K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	21	3092	+		Lung SC(185;0.0225)|Breast(139;0.077)	1017			Tudor 2.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3051T>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237476	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.86	2.62	0.31277	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.237875	0.36066	N	0.002803	T	0.05410	0.0143	N	0.19112	0.55	0.80722	D	1	P;P;B;P	0.45283	0.855;0.608;0.16;0.734	B;B;B;B	0.43386	0.418;0.183;0.087;0.363	T	0.52102	-0.8620	10	0.19147	T	0.46	-7.1031	6.4963	0.22144	0.0:0.1634:0.0:0.8366	.	1017;69;1017;1017	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	K	1017;1017;876;341;69	ENSP00000255324:N1017K;ENSP00000371346:N1017K;ENSP00000388892:N341K;ENSP00000344776:N69K	ENSP00000255324:N1017K	N	+	3	2	RNF17	24317167	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	0.158000	0.16422	0.431000	0.26258	0.482000	0.46254	AAT		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		A	25419167	T	A	25419167	3	1	168	1	0	0	0	0	1	0	0	0	13461	1432	50	5	3137	5	RNF17	13	25419167	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08		25419167	89750711	66	11963											
TEP1	7011	broad.mit.edu	37	chr14	20873722	20873722	+	Missense_Mutation	SNP	C	C	G																															cttctgagaccagagtagagCacagcaagctcagtagagcc																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873722C>G	ENST00000262715.5	-	4	798	c.758G>C	c.(757-759)tGc>tCc	p.C253S	TEP1_ENST00000556935.1_Missense_Mutation_p.C253S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	253	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAGTAGAGCACAGCAAGCT	0.468																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(757-759)tGc>tCc		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							91	87	89					14																	20873722		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20873722C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.758G>C	14.37:g.20873722C>G	ENSP00000262715:p.Cys253Ser					TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	p.C253S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	798	-	all_cancers(95;0.00123)	all_lung(585;0.235)	253			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.758G>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480961	0.63849	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15718	2.4;2.4	4.84	4.84	0.62591	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.32530	0.975	0.80722	D	1	D;P	0.76494	0.999;0.926	D;P	0.83275	0.996;0.83	T	0.00827	-1.1550	10	0.23302	T	0.38	-16.5757	13.0248	0.58808	0.0:0.8374:0.1625:0.0	.	253;253	G3V5X7;Q99973	.;TEP1_HUMAN	S	253	ENSP00000262715:C253S;ENSP00000452574:C253S	ENSP00000262715:C253S	C	-	2	0	TEP1	19943562	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.495000	0.60353	2.679000	0.91253	0.655000	0.94253	TGC		0.468	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20873722	C	G	20873722	3	3	168	1	0	0	0	0	1	0	0	0	15756	710	25	5	7333	5	TEP1	14	20873722	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		20873722	86475818	67	11964	15	2									
TEP1	7011	broad.mit.edu	37	chr14	20873724	20873724	+	Silent	SNP	C	C	G																															tctgagaccagagtagagcaCagcaagctcagtagagccat																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873724C>G	ENST00000262715.5	-	4	796	c.756G>C	c.(754-756)ctG>ctC	p.L252L	TEP1_ENST00000556935.1_Silent_p.L252L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	252	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGTAGAGCACAGCAAGCTCA	0.463																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(754-756)ctG>ctC		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							89	85	86					14																	20873724		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20873724C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.756G>C	14.37:g.20873724C>G						TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L252L	p.L252L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	796	-	all_cancers(95;0.00123)	all_lung(585;0.235)	252			TROVE.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.756G>C	CCDS9548.1																																																																																				0.463	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20873724	C	G	20873724	2	3	168	1	0	0	0	0	0	0	0	1	15756	465	17	5		5	TEP1	14	20873724	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	2	20873724	86475816	68	11965	15	2									
NOVA1	4857	broad.mit.edu	37	chr14	26941562	26941562	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcatgggatcagatggAgaggacttggtggtagttgg	8	11	19	3	0	2	2	2	0	0	2	2	5	2	4	0	7	0	2	0	7	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:26941562A>C	ENST00000344429.5	-	4	486	c.483T>G	c.(481-483)tcT>tcG	p.S161S	NOVA1_ENST00000547619.1_Silent_p.S161S|NOVA1_ENST00000267422.7_Silent_p.S39S|NOVA1_ENST00000539517.2_Silent_p.S161S|NOVA1_ENST00000465357.2_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	164					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCAGATGGAGAGGACTTGG	0.428																																						uc001wqa.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(115-117)tcT>tcG		Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.							217	180	193					14																	26941562		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26941562A>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.483T>G	14.37:g.26941562A>C						NOVA1_uc001wpy.3_Silent_p.S161S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Silent_p.S161S	p.S39S	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	4	903	-			164					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.117T>G	CCDS9635.1																																																																																				0.428	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		C	26941562	A	C	26941562	2	2	168	1	0	0	0	0	0	0	0	1	10554	291	11	5		5	NOVA1	14	26941562	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	6067838	26941562	80407978	69	11966											
RTN1	6252	broad.mit.edu	37	chr14	60212931	60212931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtggactctgcaggagtCatctctattccagaatcaga	10	11	9	11	1	4	2	2	0	2	2	7	4	6	4	2	2	1	1	2	2	2	2	rs201476917		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60212931C>G	ENST00000267484.5	-	2	845	c.510G>C	c.(508-510)atG>atC	p.M170I		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	170					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCAGGAGTCATCTCTATTC	0.512																																						uc001xen.1																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(508-510)atG>atC		Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.							104	104	104					14																	60212931		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212931C>G	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.510G>C	14.37:g.60212931C>G	ENSP00000267484:p.Met170Ile						p.M170I	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	1	719	-			170					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.510G>C	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054873	0.75960	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.25414	1.8	5.48	5.48	0.80851	.	0.255193	0.45867	D	0.000331	T	0.32645	0.0836	M	0.72894	2.215	0.58432	D	0.999994	B	0.30824	0.296	B	0.26202	0.067	T	0.10359	-1.0633	10	0.46703	T	0.11	.	19.3358	0.94319	0.0:1.0:0.0:0.0	.	170	Q16799	RTN1_HUMAN	I	170;96	ENSP00000267484:M170I	ENSP00000267484:M170I	M	-	3	0	RTN1	59282684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.025000	0.57225	2.573000	0.86826	0.557000	0.71058	ATG		0.512	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			G	60212931	C	G	60212931	3	3	168	1	0	0	0	0	1	0	0	0	13725	826	29	5	1917	5	RTN1	14	60212931	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	33271369	60212931	47136609	70	11967											
RTN1	6252	broad.mit.edu	37	chr14	60213169	60213169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgttgttgagaaggtgTggtccatggcactggaaaca	10	12	14	5	0	0	2	0	2	0	1	1	4	1	3	1	4	1	3	1	4	2	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60213169T>C	ENST00000267484.5	-	2	607	c.272A>G	c.(271-273)cAc>cGc	p.H91R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	91					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGAGAAGGTGTGGTCCATGGC	0.478																																						uc001xen.1																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(271-273)cAc>cGc		Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.							81	62	68					14																	60213169		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60213169T>C	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.272A>G	14.37:g.60213169T>C	ENSP00000267484:p.His91Arg						p.H91R	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	1	481	-			91					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.272A>G	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	T	9.890	1.203926	0.22121	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.23348	1.91	5.07	-1.5	0.08691	.	1.038360	0.07466	N	0.901455	T	0.19287	0.0463	L	0.50919	1.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35325	-0.9793	10	0.17369	T	0.5	.	5.2691	0.15615	0.0:0.3129:0.1448:0.5422	.	91	Q16799	RTN1_HUMAN	R	91;17	ENSP00000267484:H91R	ENSP00000267484:H91R	H	-	2	0	RTN1	59282922	0.005000	0.15991	0.003000	0.11579	0.016000	0.09150	0.022000	0.13511	-0.186000	0.10533	-0.379000	0.06801	CAC		0.478	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			C	60213169	T	C	60213169	3	2	168	1	0	0	0	0	1	0	0	0	13725	1696	59	4	2155	4	RTN1	14	60213169	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	238	60213169	47136371	71	11968											
SYNE2	23224	broad.mit.edu	37	chr14	64430685	64430685	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacagaagttgctaaaggaTtcagagaatgatacctactt	15	11	8	7	0	1	3	1	1	0	2	1	5	1	4	1	1	4	2	1	1	7	7			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:64430685T>C	ENST00000344113.4	+	10	1169	c.957T>C	c.(955-957)gaT>gaC	p.D319D	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.D319D|SYNE2_ENST00000358025.3_Silent_p.D319D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	319					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCTAAAGGATTCAGAGAATG	0.308																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(955-957)gaT>gaC		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							81	77	78					14																	64430685		1806	4069	5875	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64430685T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.957T>C	14.37:g.64430685T>C						SYNE2_uc001xgm.3_Silent_p.D319D|SYNE2_uc021ruh.1_Silent_p.D319D	p.D319D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	9	1187	+			319					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.957T>C	CCDS41963.1																																																																																				0.308	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64430685	T	C	64430685	2	2	168	1	0	0	0	0	0	0	0	1	15443	1490	52	4		4	SYNE2	14	64430685	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	4217516	64430685	42918855	72	11969											
NEDD4	4734	broad.mit.edu	37	chr15	56132880	56132880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaagagaggtgatcttcGttacacaatccagagtttgg	13	11	11	6	1	1	3	0	1	1	2	3	4	2	3	1	2	1	3	1	2	4	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr15:56132880G>A	ENST00000508342.1	-	16	3440	c.3141C>T	c.(3139-3141)aaC>aaT	p.N1047N	NEDD4_ENST00000435532.3_Silent_p.N628N|NEDD4_ENST00000506154.1_Silent_p.N1031N|NEDD4_ENST00000338963.2_Silent_p.N975N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1047	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGATCTTCGTTACACAATC	0.338																																						uc002adj.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3139-3141)aaC>aaT		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.							135	145	142					15																	56132880		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132880G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3141C>T	15.37:g.56132880G>A						NEDD4_uc002adl.3_Silent_p.N628N|NEDD4_uc002adi.3_Silent_p.N975N|NEDD4_uc010ugj.2_Silent_p.N1031N|NEDD4_uc010bfm.3_Silent_p.N1030N|NEDD4_uc002adk.3_Non-coding_Transcript	p.N1047N	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3441	-			1047			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.3141C>T		.	.	.	.	.	.	.	.	.	.	G	8.038	0.763159	0.15914	.	.	ENSG00000069869	ENST00000508871	.	.	.	6.07	2.54	0.30619	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50406	-0.8832	4	.	.	.	.	9.3814	0.38316	0.7988:0.0:0.2012:0.0	.	.	.	.	M	638	.	.	T	-	2	0	NEDD4	53920172	0.985000	0.35326	1.000000	0.80357	0.934000	0.57294	0.464000	0.21988	0.190000	0.20209	-1.004000	0.02495	ACG		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		A	56132880	G	A	56132880	2	1	168	1	0	0	0	0	0	0	0	1	10310	1136	40	1		1	NEDD4	15	56132880	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		56132880	46398512	73	11970											
HS3ST6	64711	broad.mit.edu	37	chr16	1962204	1962204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttcggggcatcagaCtcctgcgggacgggtgcaag	7	6	17	11	3	1	1	1	0	0	1	3	2	2	2	2	5	2	3	2	5	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr16:1962204C>A	ENST00000293937.3	-	2	415	c.416G>T	c.(415-417)aGt>aTt	p.S139I	HS3ST6_ENST00000443547.1_Missense_Mutation_p.S108I|HS3ST6_ENST00000454677.2_Missense_Mutation_p.S156I			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	139					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGGCATCAGACTCCTGCGGGA	0.706																																						uc002cnf.3																			0				endometrium(2)|lung(2)	4						c.(322-324)aGt>aTt		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.							11	13	12					16																	1962204		2188	4290	6478	SO:0001583	missense	64711							g.chr16:1962204C>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.416G>T	16.37:g.1962204C>A	ENSP00000293937:p.Ser139Ile					TCRBV20S1_uc021tak.1_Intron	p.S108I	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			1	323	-			108					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.323G>T		.	.	.	.	.	.	.	.	.	.	C	11.24	1.579912	0.28180	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.57273	0.41;0.41	4.91	2.95	0.34219	Sulfotransferase domain (1);	0.508110	0.22524	N	0.058924	T	0.62600	0.2441	M	0.85630	2.765	0.26396	N	0.97651	P	0.45126	0.851	P	0.50314	0.637	T	0.57195	-0.7853	10	0.54805	T	0.06	.	7.5376	0.27719	0.0:0.7401:0.0:0.2599	.	139	Q96QI5	HS3S6_HUMAN	I	139;108;178	ENSP00000293937:S139I;ENSP00000390354:S108I	ENSP00000293937:S139I	S	-	2	0	HS3ST6	1902205	1.000000	0.71417	0.999000	0.59377	0.014000	0.08584	0.970000	0.29383	1.084000	0.41184	0.555000	0.69702	AGT		0.706	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		A	1962204	C	A	1962204	3	1	168	1	0	0	0	0	1	0	0	0	7369	565	20	5	616	5	HS3ST6	16	1962204	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		1962204	88392549	74	11971											
PHF12	57649	broad.mit.edu	37	chr17	27240276	27240276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatatgctgcactggagcGcaacaacactacagagccac	14	6	8	13	1	1	1	1	0	0	1	1	2	1	2	1	1	7	3	1	1	5	2	rs141809044		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:27240276G>A	ENST00000332830.4	-	9	2123	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PHF12_ENST00000268756.3_Missense_Mutation_p.A438V|PHF12_ENST00000577226.1_Missense_Mutation_p.A438V|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACTGGAGCGCAACAACACT	0.532																																						uc002hdg.1																			0		p.A438A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1312-1314)gCg>gTg		Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	78	79	79		1313,1313	5.5	1	17	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense	PHF12	NM_001033561.1,NM_020889.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	438/1005,438/705	27240276	1,13005	2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27240276G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1313C>T	17.37:g.27240276G>A	ENSP00000329933:p.Ala438Val					PHF12_uc010wbb.1_Missense_Mutation_p.A420V|PHF12_uc002hdi.1_Missense_Mutation_p.A434V|PHF12_uc002hdj.1_Missense_Mutation_p.A438V|PHF12_uc010crw.1_Missense_Mutation_p.A141V|PHF12_uc002hdh.1_Missense_Mutation_p.A221V	p.A438V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		8	1843	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		438			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1313C>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911124	0.92178	2.27E-4	0.0	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.96396	-3.98;-4.0;-4.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.996;0.994;0.926;0.991	D	0.98145	1.0438	10	0.87932	D	0	-0.3355	18.2435	0.89977	0.0:0.0:1.0:0.0	.	420;438;438;438;438	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	V	438	ENSP00000329933:A438V;ENSP00000368157:A438V;ENSP00000268756:A438V	ENSP00000268756:A438V	A	-	2	0	PHF12	24264402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.724000	0.93272	0.563000	0.77884	GCG		0.532	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		A	27240276	G	A	27240276	3	1	168	1	0	0	0	0	1	0	0	0	11823	1087	38	1	1755	1	PHF12	17	27240276	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		27240276	53954934	75	11972											
ACACA	31	broad.mit.edu	37	chr17	35633950	35633950	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggcaatgccatttttcaAgagaagttccggtagtttgg	11	12	12	6	1	1	1	1	0	0	1	2	3	2	1	2	3	1	4	2	3	5	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:35633950A>G	ENST00000394406.2	-	7	857	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	ACACA_ENST00000360679.3_Silent_p.L165L|ACACA_ENST00000353139.5_Silent_p.L260L|ACACA_ENST00000335166.5_Silent_p.L145L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	223	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATTTTTCAAGAGAAGTTCC	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(667-669)Ttg>Ctg		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						145	144	144					17																	35633950		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35633950A>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.667T>C	17.37:g.35633950A>G						ACACA_uc002hnk.3_Silent_p.L145L|ACACA_uc002hnl.3_Silent_p.L165L|ACACA_uc002hnn.3_Silent_p.L223L|ACACA_uc002hno.3_Silent_p.L260L|ACACA_uc010cuz.3_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	p.L223L	NM_198836	NP_942135	Q13085	ACACA_HUMAN			6	858	-		Breast(25;0.00157)|Ovarian(249;0.15)	223			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.667T>C	CCDS11317.1																																																																																				0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		G	35633950	A	G	35633950	2	3	168	1	0	0	0	0	0	0	0	1	106	69	3	4		4	ACACA	17	35633950	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	8393674	35633950	45561260	76	11973											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240673	39240673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccacctgctgtgagaCgacctgctgccaccctaggt	6	8	10	17	2	0	1	0	1	0	1	1	3	0	1	6	1	3	2	6	1	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39240673C>T	ENST00000391417.4	+	1	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	72	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCTGTGAGACGACctgctgc	0.652																																						uc010wfn.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(214-216)aCg>aTg		Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.							18	30	27					17																	39240673		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240673C>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.215C>T	17.37:g.39240673C>T	ENSP00000375236:p.Thr72Met						p.T72M	NM_033061	NP_149050					0	215	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.215C>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189254	0.09547	.	.	ENSG00000240871	ENST00000391417	T	0.01455	4.87	3.54	1.35	0.21983	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.44590	-0.9318	8	0.87932	D	0	.	6.5286	0.22314	0.0:0.706:0.183:0.111	.	72	Q9BYR0	KRA47_HUMAN	M	72	ENSP00000375236:T72M	ENSP00000375236:T72M	T	+	2	0	KRTAP4-7	36494199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.962000	0.29280	0.093000	0.17368	-0.398000	0.06409	ACG		0.652	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			T	39240673	C	T	39240673	3	4	168	1	0	0	0	0	1	0	0	0	8555	536	19	1	217	1	KRTAP4-7	17	39240673	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	3606723	39240673	41954537	77	11974											
COL1A1	1277	broad.mit.edu	37	chr17	48263379	48263379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccctggccgccatactcGaactgcaggggaggggagag	9	4	17	11	2	0	1	0	0	0	1	1	5	0	2	3	5	4	1	3	5	2	1	rs72656346		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48263379G>A	ENST00000225964.5	-	50	4126	c.4008C>T	c.(4006-4008)ttC>ttT	p.F1336F		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1336	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGCCATACTCGAACTGCAGGG	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(4006-4008)ttC>ttT		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						28	28	28					17																	48263379		2199	4293	6492	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263379G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4008C>T	17.37:g.48263379G>A						DD181999_uc021tzy.1_5'Flank	p.F1336F	NM_000088	NP_000079	P02452	CO1A1_HUMAN			49	4134	-			1336			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.4008C>T	CCDS11561.1																																																																																				0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			A	48263379	G	A	48263379	2	1	168	1	0	0	0	0	0	0	0	1	3677	1049	37	2		2	COL1A1	17	48263379	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	9022706	48263379	32931831	78	11975											
ABCC3	8714	broad.mit.edu	37	chr17	48757178	48757178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacatttgctctgaactGgatgatacgaatgatgtcag	11	12	12	6	1	2	4	1	4	1	0	2	6	2	5	0	2	3	1	0	2	3	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48757178G>A	ENST00000285238.8	+	26	3805	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1242	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCTCTGAACTGGATGATACGA	0.517																																						uc002isl.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3724-3726)tGg>tAg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	Glibenclamide(DB01016)						176	144	155					17																	48757178		2203	4300	6503	SO:0001587	stop_gained	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48757178G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3725G>A	17.37:g.48757178G>A	ENSP00000285238:p.Trp1242*					ABCC3_uc002isn.3_5'UTR	p.W1242*	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		25	3805	+			1242			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Nonsense_Mutation	SNP	ENST00000285238.8	37	c.3725G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	44	10.890546	0.99484	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9464	18.1785	0.89769	0.0:0.0:1.0:0.0	.	.	.	.	X	1242	.	ENSP00000285238:W1242X	W	+	2	0	ABCC3	46112177	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.605000	0.74155	2.263000	0.75096	0.655000	0.94253	TGG		0.517	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48757178	G	A	48757178	4	1	168	1	0	0	0	0	0	1	0	0	54	1357	47	3	3911	3	ABCC3	17	48757178	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	493799	48757178	32438032	79	11976											
SOX9	6662	broad.mit.edu	37	chr17	70120351	70120351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagaactccagctcctaCtacagccacgcggcaggcca	11	4	8	18	2	0	1	0	0	0	1	2	1	2	1	5	2	5	2	5	2	3	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:70120351C>T	ENST00000245479.2	+	3	1725	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	451					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGCTCCTACTACAGCCACG	0.637																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1351-1353)taC>taT		Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.							179	167	171					17																	70120351		2203	4300	6503	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120351C>T	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1353C>T	17.37:g.70120351C>T							p.Y451Y	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	1725	+		Colorectal(1115;0.245)	451					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1353C>T	CCDS11689.1																																																																																				0.637	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		T	70120351	C	T	70120351	2	4	168	1	0	0	0	0	0	0	0	1	14958	576	20	3		3	SOX9	17	70120351	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	21363173	70120351	11074859	80	11977											
SEPT9	10801	broad.mit.edu	37	chr17	75398771	75398771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgtggctgaggctacacCccggagccaggagggtgagt	7	6	16	12	1	0	2	0	2	0	0	0	4	0	4	4	5	2	2	4	5	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:75398771C>T	ENST00000427177.1	+	3	833	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SEPT9_ENST00000431235.2_Missense_Mutation_p.P72L|SEPT9_ENST00000592420.1_Missense_Mutation_p.P45L|SEPT9_ENST00000591198.1_Missense_Mutation_p.P217L|SEPT9_ENST00000427674.2_Missense_Mutation_p.P72L|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000423034.2_Missense_Mutation_p.P229L|SEPT9_ENST00000329047.8_Missense_Mutation_p.P218L|SEPT9_ENST00000590294.1_Missense_Mutation_p.P218L|SEPT9_ENST00000588690.1_Missense_Mutation_p.P72L|SEPT9_ENST00000449803.2_Missense_Mutation_p.P72L	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	236					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGGCTACACCCCGGAGCCAG	0.627																																						uc002jts.4																			0		p.A235V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(706-708)cCc>cTc		Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.							19	23	22					17																	75398771		1906	4107	6013	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398771C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.707C>T	17.37:g.75398771C>T	ENSP00000391249:p.Pro236Leu					SEPT9_uc010wtk.2_Missense_Mutation_p.P217L|SEPT9_uc002jtt.4_Missense_Mutation_p.P72L|SEPT9_uc002jtu.4_Missense_Mutation_p.P218L|SEPT9_uc002jtv.3_Missense_Mutation_p.P229L|SEPT9_uc002jtw.3_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.2_5'Flank	p.P236L	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	833	+			236					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.707C>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	C	4.298	0.054529	0.08291	.	.	ENSG00000184640	ENST00000427177;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674	T;T;T;T;T	0.43688	1.31;0.94;1.32;1.32;0.94	4.84	3.84	0.44239	.	2.201380	0.01633	U	0.023636	T	0.41811	0.1175	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B;B	0.30281	0.161;0.275;0.191;0.001;0.005	B;B;B;B;B	0.33690	0.116;0.168;0.156;0.002;0.004	T	0.35325	-0.9793	10	0.23891	T	0.37	.	11.2297	0.48905	0.3448:0.6552:0.0:0.0	.	217;197;229;218;236	Q9UHD8-7;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;SEPT9_HUMAN	L	236;72;218;229;72	ENSP00000391249:P236L;ENSP00000400181:P72L;ENSP00000329161:P218L;ENSP00000405877:P229L;ENSP00000403194:P72L	ENSP00000329161:P218L	P	+	2	0	SEPT9	72910366	0.179000	0.23135	0.205000	0.23548	0.177000	0.22998	1.645000	0.37238	0.964000	0.38108	0.313000	0.20887	CCC		0.627	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		T	75398771	C	T	75398771	3	4	168	1	0	0	0	0	1	0	0	0	14071	623	22	3	802	3	SEPT9	17	75398771	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	5278420	75398771	5796439	81	11978											
GAA	2548	broad.mit.edu	37	chr17	78083809	78083809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacgacgagggtctgcggagGggggttttcatcaccaacga	9	8	15	9	4	3	0	2	0	1	0	3	4	3	1	1	5	3	1	1	5	2	3	rs372786811		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:78083809G>A	ENST00000302262.3	+	9	1611	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	GAA_ENST00000390015.3_Silent_p.R464R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	464					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GTCTGCGGAGGGGGGTTTTCA	0.657																																						uc002jxp.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1390-1392)agG>agA		Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	Acarbose(DB00284)						37	43	41					17																	78083809		2202	4300	6502	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083809G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1392G>A	17.37:g.78083809G>A						GAA_uc002jxo.3_Silent_p.R464R|GAA_uc002jxq.3_Silent_p.R464R	p.R464R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		8	1759	+	all_neural(118;0.117)		464					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1392G>A	CCDS32760.1																																																																																				0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			A	78083809	G	A	78083809	2	1	168	1	0	0	0	0	0	0	0	1	6147	1223	43	3		3	GAA	17	78083809	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	2685038	78083809	3111401	82	11979											
SMCHD1	23347	broad.mit.edu	37	chr18	2700844	2700844	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaggtcagcacaaataaAttgacgtttatggatcttga	13	13	8	7	1	2	2	1	2	1	0	3	3	3	3	1	2	1	2	1	2	4	6			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:2700844A>C	ENST00000320876.6	+	12	1913	c.1575A>C	c.(1573-1575)aaA>aaC	p.K525N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K525N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	525					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCACAAATAAATTGACGTTTA	0.338																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1573-1575)aaA>aaC		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							83	83	83					18																	2700844		1836	4090	5926	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2700844A>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1575A>C	18.37:g.2700844A>C	ENSP00000326603:p.Lys525Asn					SMCHD1_uc002klk.4_Non-coding_Transcript	p.K525N	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			11	1764	+			525					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1575A>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	7.944	0.743326	0.15642	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.59638	0.25;0.28	5.46	1.33	0.21861	.	.	.	.	.	T	0.67692	0.2920	L	0.53249	1.67	0.30829	N	0.736912	D	0.76494	0.999	D	0.80764	0.994	T	0.65647	-0.6117	9	0.87932	D	0	.	8.9801	0.35959	0.7086:0.0:0.2914:0.0	.	525	A6NHR9	SMHD1_HUMAN	N	525	ENSP00000326603:K525N;ENSP00000261598:K525N	ENSP00000261598:K525N	K	+	3	2	SMCHD1	2690844	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	0.956000	0.29202	-0.007000	0.14345	-0.353000	0.07706	AAA		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			C	2700844	A	C	2700844	3	2	168	1	0	0	0	0	1	0	0	0	14788	98	4	5	1621	5	SMCHD1	18	2700844	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08		2700844	75376404	83	11980											
CIDEA	1149	broad.mit.edu	37	chr18	12274238	12274238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtactccgtgtcctaCgacatccggtgcacgggact	8	9	12	12	4	0	1	0	0	0	1	3	4	3	2	3	2	3	2	3	2	2	2	rs143526030	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:12274238C>T	ENST00000320477.9	+	4	542	c.477C>T	c.(475-477)taC>taT	p.Y159Y	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	159					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGTGTCCTACGACATCCGGT	0.587																																						uc002kqt.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(475-477)taC>taT		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.		C		0,4406		0,0,2203	128	103	111		477	-1.7	1	18	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CIDEA	NM_001279.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		159/220	12274238	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274238C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.477C>T	18.37:g.12274238C>T						CIDEA_uc002kqu.4_Silent_p.Y193Y|CIDEA_uc010dlc.3_Non-coding_Transcript	p.Y159Y	NM_001279	NP_001270	O60543	CIDEA_HUMAN			3	542	+			159					B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	c.477C>T	CCDS11856.1																																																																																				0.587	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		T	12274238	C	T	12274238	2	4	168	1	0	0	0	0	0	0	0	1	3425	547	19	1		1	CIDEA	18	12274238	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	9573394	12274238	65803010	84	11981											
TICAM1	148022	broad.mit.edu	37	chr19	4817811	4817811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgccagtggatcgcagGgagcacccttggctccagtc	6	7	15	13	1	0	0	0	0	0	0	3	2	1	2	3	4	2	4	3	4	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:4817811G>A	ENST00000248244.5	-	2	808	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	193					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGATCGCAGGGAGCACCCTT	0.652																																						uc002mbi.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(577-579)tcC>tcT		Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.							60	58	59					19																	4817811		2203	4300	6503	SO:0001819	synonymous_variant	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817811G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.579C>T	19.37:g.4817811G>A						TICAM1_uc021unj.1_Silent_p.S193S	p.S193S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	830	-			193					B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	c.579C>T	CCDS12136.1																																																																																				0.652	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		A	4817811	G	A	4817811	2	1	168	1	0	0	0	0	0	0	0	1	15889	1219	43	3		3	TICAM1	19	4817811	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		4817811	54311172	85	11982											
MUC16	94025	broad.mit.edu	37	chr19	9058146	9058146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccaacacttctgtagtcTtcaccaggcctgggaggata	10	11	9	11	0	3	0	1	0	2	0	4	2	4	2	3	3	1	1	3	3	4	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9058146T>C	ENST00000397910.4	-	3	29503	c.29300A>G	c.(29299-29301)aAg>aGg	p.K9767R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9769	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGTAGTCTTCACCAGGCC	0.493																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29299-29301)aAg>aGg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							60	57	58					19																	9058146		1910	4129	6039	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058146T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29300A>G	19.37:g.9058146T>C	ENSP00000381008:p.Lys9767Arg						p.K9767R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	29504	-			9769			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29300A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.720	0.501527	0.12822	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.81	-4.95	0.03048	.	.	.	.	.	T	0.12305	0.0299	N	0.24115	0.695	.	.	.	B	0.20052	0.041	B	0.15052	0.012	T	0.29212	-1.0019	8	0.87932	D	0	.	1.2289	0.01939	0.1526:0.2422:0.3669:0.2383	.	9767	B5ME49	.	R	9767	ENSP00000381008:K9767R	ENSP00000381008:K9767R	K	-	2	0	MUC16	8919146	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.838000	0.04372	-1.217000	0.02604	-0.385000	0.06624	AAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9058146	T	C	9058146	3	2	168	1	0	0	0	0	1	0	0	0	9973	1609	56	4	14551	4	MUC16	19	9058146	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	4240335	9058146	50070837	86	11983											
MUC16	94025	broad.mit.edu	37	chr19	9084687	9084687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagttgaagaagctatggaGgtgttgatcagatcagaaga	15	10	13	3	0	2	6	2	2	0	4	2	7	2	7	0	2	1	3	0	2	5	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9084687G>A	ENST00000397910.4	-	1	7331	c.7128C>T	c.(7126-7128)acC>acT	p.T2376T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2376	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGCTATGGAGGTGTTGATCA	0.438																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(7126-7128)acC>acT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							136	132	133					19																	9084687		1953	4153	6106	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084687G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7128C>T	19.37:g.9084687G>A							p.T2376T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	7332	-			2376			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.7128C>T	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9084687	G	A	9084687	2	1	168	1	0	0	0	0	0	0	0	1	9973	987	35	3		3	MUC16	19	9084687	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	26541	9084687	50044296	87	11984											
IL28B	282617	broad.mit.edu	37	chr19	39734655	39734655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacgactcacacaggccCggagctgggagaggatatgg	10	5	15	11	2	1	2	1	1	0	1	1	6	1	4	2	5	1	1	2	5	1	1	rs540120208	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:39734655C>T	ENST00000413851.2	-	3	439	c.401G>A	c.(400-402)cGg>cAg	p.R134Q		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	134					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CACACAGGCCCGGAGCTGGGA	0.667													C|||	2	0.000399361	0	0	5008	,	,		16020	0		0	False		,,,				2504	0.002					uc010xut.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(400-402)cGg>cAg		Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.							51	57	55					19																	39734655		2203	4300	6503	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734655C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.401G>A	19.37:g.39734655C>T	ENSP00000409000:p.Arg134Gln					IL28B_uc010xuu.2_Missense_Mutation_p.R134Q	p.R134Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	403	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		134					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.401G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.478765	0.01035	.	.	ENSG00000197110	ENST00000413851	T	0.28255	1.62	3.95	-0.975	0.10289	.	1.155750	0.06241	N	0.690477	T	0.08447	0.0210	N	0.00926	-1.1	0.53688	D	0.999971	B	0.20550	0.046	B	0.09377	0.004	T	0.50583	-0.8811	10	0.02654	T	1	-7.6864	7.6929	0.28577	0.0:0.5486:0.0:0.4514	.	134	Q8IZI9	IL28B_HUMAN	Q	134	ENSP00000409000:R134Q	ENSP00000409000:R134Q	R	-	2	0	IL28B	44426495	0.005000	0.15991	0.314000	0.25224	0.349000	0.29174	-0.667000	0.05274	-0.187000	0.10516	0.205000	0.17691	CGG		0.667	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		T	39734655	C	T	39734655	3	4	168	1	0	0	0	0	1	0	0	0	7683	652	23	2	200	2	IL28B	19	39734655	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	30649968	39734655	19394328	88	11985											
KLC3	147700	broad.mit.edu	37	chr19	45853908	45853908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccccaggcccttcgcCgcagcagctcactctccaag	6	6	7	22	2	2	0	1	0	1	0	5	0	3	0	7	1	2	3	7	1	1	1	rs373353596		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:45853908C>T	ENST00000391946.2	+	11	1384	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Missense_Mutation_p.R427C|KLC3_ENST00000470402.1_Missense_Mutation_p.R442C	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	428					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCCTTCGCCGCAGCAGCTC	0.692																																						uc002pbg.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1324-1326)Cgc>Tgc		Homo sapiens kinesin light chain 3 (KLC3), mRNA.		C	CYS/ARG	1,3819		0,1,1909	21	25	24		1282	2.5	0.6	19		24	0,8226		0,0,4113	no	missense	KLC3	NM_177417.2	180	0,1,6022	TT,TC,CC		0.0,0.0262,0.0083	probably-damaging	428/505	45853908	1,12045	1910	4113	6023	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853908C>T	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1282C>T	19.37:g.45853908C>T	ENSP00000375810:p.Arg428Cys					KLC3_uc002pbf.1_Missense_Mutation_p.R428C|KLC3_uc010ejy.1_Missense_Mutation_p.R427C	p.R442C	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	9	1424	+		Ovarian(192;0.0728)|all_neural(266;0.112)	428					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.1324C>T	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436179	0.43224	2.62E-4	0.0	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.88354	-2.37;-2.3	3.68	2.5	0.30297	.	0.077009	0.51477	D	0.000088	D	0.91503	0.7317	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.90089	0.4176	10	0.87932	D	0	-13.2488	8.0044	0.30317	0.3417:0.6583:0.0:0.0	.	427;442;428	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	C	428;442	ENSP00000375810:R428C;ENSP00000436019:R442C	ENSP00000375810:R428C	R	+	1	0	KLC3	50545748	0.102000	0.21896	0.596000	0.28811	0.463000	0.32649	0.468000	0.22051	0.662000	0.31006	0.455000	0.32223	CGC		0.692	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		T	45853908	C	T	45853908	3	4	168	1	0	0	0	0	1	0	0	0	8335	652	23	2	1320	2	KLC3	19	45853908	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	6119253	45853908	13275075	89	11986											
TMEM143	55260	broad.mit.edu	37	chr19	48845929	48845929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaggttgagcagggcgCgctgcagggtgggcgtgcgc	5	6	21	9	4	0	2	0	2	0	0	0	2	0	2	0	4	3	5	0	4	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:48845929C>T	ENST00000293261.3	-	6	1149	c.833G>A	c.(832-834)cGc>cAc	p.R278H	TMEM143_ENST00000435956.3_Missense_Mutation_p.R243H|TMEM143_ENST00000541566.1_Missense_Mutation_p.R168H|TMEM143_ENST00000377431.2_Missense_Mutation_p.R178H|TMEM143_ENST00000436660.2_Missense_Mutation_p.R213H	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	278					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGCAGGGCGCGCTGCAGGGT	0.637																																						uc002pix.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(832-834)cGc>cAc		Homo sapiens transmembrane protein 143 (TMEM143), mRNA.							61	51	55					19																	48845929		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48845929C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.833G>A	19.37:g.48845929C>T	ENSP00000293261:p.Arg278His					TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|Mir_324_uc021uws.1_5'Flank	p.R278H	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	5	842	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	278					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.833G>A	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631562	0.87660	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50277	0.75;0.77;0.76	4.63	4.63	0.57726	.	0.210372	0.29624	N	0.011622	T	0.62060	0.2397	L	0.47716	1.5	0.33103	D	0.539482	D;P;D;D	0.89917	1.0;0.923;1.0;1.0	D;B;D;D	0.87578	0.998;0.308;0.949;0.98	T	0.68588	-0.5369	10	0.38643	T	0.18	-5.5042	16.6974	0.85339	0.0:1.0:0.0:0.0	.	213;178;243;278	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	H	278;178;243;213;168	ENSP00000293261:R278H;ENSP00000397038:R243H;ENSP00000444275:R168H	ENSP00000293261:R278H	R	-	2	0	TMEM143	53537741	0.876000	0.30132	0.980000	0.43619	0.995000	0.86356	1.496000	0.35638	2.301000	0.77427	0.456000	0.33151	CGC		0.637	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		T	48845929	C	T	48845929	3	4	168	1	0	0	0	0	1	0	0	0	16054	768	27	1	558	1	TMEM143	19	48845929	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	2992021	48845929	10283054	90	11987											
TMEM150B	284417	broad.mit.edu	37	chr19	55828201	55828201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagaggcccaggcggaggGgcccaatccaggcagccccg	8	2	16	15	2	0	1	0	0	0	1	1	2	1	2	5	6	2	2	5	6	1	0			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:55828201G>A	ENST00000326652.4	-	7	640	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM150B_ENST00000438693.1_Missense_Mutation_p.P153L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	153						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CAGGCGGAGGGGCCCAATCCA	0.617																																						uc010esw.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(457-459)cCc>cTc		Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.							17	20	19					19																	55828201		1954	4122	6076	SO:0001583	missense	284417					integral to membrane		g.chr19:55828201G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.458C>T	19.37:g.55828201G>A	ENSP00000320757:p.Pro153Leu					TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	p.P153L	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			6	631	-			153					B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.458C>T	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	1.411	-0.575485	0.03882	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.39787	1.06;1.06	4.77	-3.75	0.04372	.	0.367632	0.27052	N	0.021169	T	0.24275	0.0588	L	0.40543	1.245	0.09310	N	0.999997	B	0.28552	0.215	B	0.33196	0.159	T	0.33445	-0.9868	10	0.11485	T	0.65	-0.1776	4.9034	0.13786	0.3386:0.2601:0.4014:0.0	.	153	A6NC51	T150B_HUMAN	L	153	ENSP00000320757:P153L;ENSP00000412658:P153L	ENSP00000320757:P153L	P	-	2	0	TMEM150B	60520013	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.049000	0.14099	-0.725000	0.04901	-0.291000	0.09656	CCC		0.617	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		A	55828201	G	A	55828201	3	1	168	1	0	0	0	0	1	0	0	0	16065	1232	43	3	251	3	TMEM150B	19	55828201	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	6982272	55828201	3300782	91	11988											
SIRPD	128646	broad.mit.edu	37	chr20	1517818	1517818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgagtcccagcagcCggaggcagcagcagggttgg	8	5	16	12	1	0	1	0	1	0	0	1	2	1	2	3	4	4	5	3	4	0	1	rs181823552	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:1517818C>T	ENST00000381623.3	-	3	1749	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.R188Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	187						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCCCAGCAGCCGGAGGCAGCA	0.612													C|||	2	0.000399361	8e-04	0	5008	,	,		17797	0		0	False		,,,				2504	0.001					uc002wfi.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(559-561)cGg>cAg		Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	112	101	105		560	1.9	1	20		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIRPD	NM_178460.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	187/198	1517818	2,13004	2203	4300	6503	SO:0001583	missense	128646					extracellular region		g.chr20:1517818C>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.560G>A	20.37:g.1517818C>T	ENSP00000371036:p.Arg187Gln						p.R187Q	NM_178460	NP_848555	Q9H106	SIRPD_HUMAN			2	604	-			187					B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	c.560G>A	CCDS13018.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	6.298|6.298	0.423044|0.423044	0.11928|0.11928	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000125900|ENSG00000125900	ENST00000429387|ENST00000381623;ENST00000381621	.|T;T	.|0.01918	.|4.56;4.61	2.83|2.83	1.88|1.88	0.25563|0.25563	.|.	.|5.151010	.|0.00786	.|U	.|0.001302	T|T	0.01592|0.01592	0.0051|0.0051	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999961|0.999961	.|B	.|0.31193	.|0.312	.|B	.|0.09377	.|0.004	T|T	0.35724|0.35724	-0.9777|-0.9777	5|10	.|0.66056	.|D	.|0.02	.|.	5.5441|5.5441	0.17053|0.17053	0.0:0.8455:0.0:0.1545|0.0:0.8455:0.0:0.1545	.|.	.|187	.|Q9H106	.|SIRPD_HUMAN	S|Q	70|187;188	.|ENSP00000371036:R187Q;ENSP00000371034:R188Q	.|ENSP00000371034:R188Q	G|R	-|-	1|2	0|0	SIRPD|SIRPD	1465818|1465818	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.341000|0.341000	0.28922|0.28922	0.588000|0.588000	0.23924|0.23924	0.745000|0.745000	0.32763|0.32763	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.612	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		T	1517818	C	T	1517818	3	4	168	1	0	0	0	0	1	0	0	0	14335	652	23	2	41	2	SIRPD	20	1517818	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		1517818	61507702	92	11989											
C20orf132	140699	broad.mit.edu	37	chr20	35776290	35776290	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagagccactaggtgtccaAgtctttggaatcgcagtgga	10	10	12	9	1	2	1	1	0	1	1	4	3	3	3	2	3	1	1	2	3	3	2	rs553957738		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:35776290A>C	ENST00000400441.3	-	10	1096	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	MROH8_ENST00000441008.2_Missense_Mutation_p.L352R|MROH8_ENST00000217333.8_Missense_Mutation_p.L246R			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	251																	TAGGTGTCCAAGTCTTTGGAA	0.478																																						uc010zvu.2																			0		p.R366R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1096-1098)cTt>cGt		Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.							53	55	54					20																	35776290		1943	4130	6073	SO:0001583	missense	140699							g.chr20:35776290A>C	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1097T>G	20.37:g.35776290A>C	ENSP00000383291:p.Leu366Arg					C20orf132_uc002xgk.3_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L366R|C20orf132_uc002xgn.2_Missense_Mutation_p.L331R	p.L366R	NM_152503	NP_689716	Q9H579	CT132_HUMAN			10	1188	-		Myeloproliferative disorder(115;0.00878)	251					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1097T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.41|18.41	3.618095|3.618095	0.66787|0.66787	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	T;T;T|T;T	0.13778|0.12672	2.56;2.56;2.56|2.66;2.66	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000006|0.000006	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.68952|0.68952	2.095|2.095	0.43246|0.43246	D|D	0.995168|0.995168	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.999|.	T|T	0.01276|0.01276	-1.1398|-1.1398	10|8	0.87932|0.72032	D|D	0|0.01	-12.5217|-12.5217	12.3215|12.3215	0.54987|0.54987	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	366;251;376;251|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.;CT132_HUMAN;.;.|.	R|V	352;366;246|393;397	ENSP00000392144:L352R;ENSP00000383291:L366R;ENSP00000217333:L246R|ENSP00000339971:L393V;ENSP00000383290:L397V	ENSP00000217333:L246R|ENSP00000339971:L393V	L|L	-|-	2|1	0|2	C20orf132|C20orf132	35209704|35209704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	4.207000|4.207000	0.58480|0.58480	2.178000|2.178000	0.69098|0.69098	0.528000|0.528000	0.53228|0.53228	CTT|TTG		0.478	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		C	35776290	A	C	35776290	3	2	168	1	0	0	0	0	1	0	0	0	2086	72	3	5	2103	5	C20orf132	20	35776290	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	34258472	35776290	27249230	93	11990											
PLXNB2	23654	broad.mit.edu	37	chr22	50717405	50717405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttcaccgggatggcGtccactccctcgtcctgcac	6	8	10	17	3	1	0	1	0	0	0	5	2	4	2	5	3	1	1	5	3	0	1	rs200143109	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr22:50717405G>A	ENST00000449103.1	-	28	4565	c.4425C>T	c.(4423-4425)gaC>gaT	p.D1475D	PLXNB2_ENST00000359337.4_Silent_p.D1475D			O15031	PLXB2_HUMAN	plexin B2	1475					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGATGGCGTCCACTCCCT	0.622													G|||	2	0.000399361	0	0.0014	5008	,	,		17847	0		0.001	False		,,,				2504	0					uc003bkv.4																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4423-4425)gaC>gaT		Homo sapiens plexin B2 (PLXNB2), mRNA.		G		0,4398		0,0,2199	117	120	119		4425	-8.5	0	22		119	6,8592	5.0+/-18.6	0,6,4293	no	coding-synonymous	PLXNB2	NM_012401.3		0,6,6492	AA,AG,GG		0.0698,0.0,0.0462		1475/1839	50717405	6,12990	2199	4299	6498	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50717405G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4425C>T	22.37:g.50717405G>A						PLXNB2_uc003bkt.1_Silent_p.D267D|PLXNB2_uc003bku.1_Silent_p.D460D	p.D1475D	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4518	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1475					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4425C>T	CCDS43035.1																																																																																				0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50717405	G	A	50717405	2	1	168	1	0	0	0	0	0	0	0	1	12124	1136	40	1		1	PLXNB2	22	50717405	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		50717405	587161	94	11991											
PIM2	11040	broad.mit.edu	37	chrX	48771532	48771532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgagggtcgggaagaaGgtttgggggccaggcaccgg	8	5	20	8	2	0	2	0	1	0	1	1	3	0	3	3	7	0	2	3	7	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:48771532G>A	ENST00000376509.4	-	6	1001	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SLC35A2_ENST00000452555.2_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376521.1_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCGGGAAGAAGGTTTGGGGGC	0.602																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(811-813)cCt>cTt		Homo sapiens pim-2 oncogene (PIM2), mRNA.							29	30	30					X																	48771532		2201	4298	6499	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48771532G>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.812C>T	X.37:g.48771532G>A	ENSP00000365692:p.Pro271Leu					SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	p.P271L	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			5	1114	-			271			Protein kinase.		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.812C>T	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388784	0.82902	.	.	ENSG00000102096	ENST00000376509	T	0.19532	2.14	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.63745	0.2537	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79478	-0.1787	10	0.87932	D	0	.	16.5231	0.84322	0.0:0.0:1.0:0.0	.	271	Q9P1W9	PIM2_HUMAN	L	271	ENSP00000365692:P271L	ENSP00000365692:P271L	P	-	2	0	PIM2	48656476	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.404000	0.97306	2.158000	0.67659	0.600000	0.82982	CCT		0.602	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			A	48771532	G	A	48771532	3	1	168	1	0	0	0	0	1	0	0	0	11928	1000	35	3	127	3	PIM2	23	48771532	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		48771532	106499028	95	11992											
ATP7A	538	broad.mit.edu	37	chrX	77243835	77243835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgacatgggctttgatgCtgttatccataatcctgacc	9	14	9	9	0	0	4	0	4	0	0	2	4	2	4	3	1	1	3	3	1	2	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:77243835C>A	ENST00000341514.6	+	3	373	c.218C>A	c.(217-219)gCt>gAt	p.A73D	ATP7A_ENST00000343533.5_Missense_Mutation_p.A73D|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	73	HMA 1. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GGCTTTGATGCTGTTATCCAT	0.423																																						uc004ecx.4																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(217-219)gCt>gAt		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.							358	306	324					X																	77243835		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77243835C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.218C>A	X.37:g.77243835C>A	ENSP00000345728:p.Ala73Asp					ATP7A_uc004ecw.2_Missense_Mutation_p.A73D	p.A73D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			2	378	+			73			HMA 1.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.218C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151026	0.78001	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.90261	-2.64;-2.64	5.72	5.72	0.89469	Heavy metal-associated domain, HMA (2);Heavy metal-associated domain, copper ion-binding (1);	0.135338	0.51477	D	0.000098	D	0.97225	0.9093	H	0.98005	4.125	0.80722	D	1	D;D	0.71674	0.993;0.998	D;P	0.65443	0.935;0.893	D	0.98115	1.0422	10	0.54805	T	0.06	-6.1007	18.8983	0.92432	0.0:1.0:0.0:0.0	.	73;83	Q04656;Q59HD1	ATP7A_HUMAN;.	D	73;73;73;83	ENSP00000343026:A73D;ENSP00000345728:A73D	ENSP00000345728:A73D	A	+	2	0	ATP7A	77130491	1.000000	0.71417	0.921000	0.36526	0.983000	0.72400	5.518000	0.67068	2.411000	0.81874	0.600000	0.82982	GCT		0.423	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		A	77243835	C	A	77243835	3	1	168	1	0	0	0	0	1	0	0	0	1190	797	28	5	224	5	ATP7A	23	77243835	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	28472303	77243835	78026725	96	11993											
STAG2	10735	broad.mit.edu	37	chrX	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccactgatgtcttacCgaaattctttgctagctggt	7	15	9	10	1	2	1	0	1	2	0	3	2	3	1	2	2	3	3	2	2	3	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:123220476C>T	ENST00000371160.1	+	30	3423	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.R976*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1045*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1045					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1045*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433																																						uc004eua.3																			1	Substitution - Nonsense(1)	p.R1045*(2)	haematopoietic_and_lymphoid_tissue(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(3133-3135)Cga>Tga		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							190	157	168					X																	123220476		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123220476C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3133C>T	X.37:g.123220476C>T	ENSP00000360202:p.Arg1045*					STAG2_uc004etz.4_Nonsense_Mutation_p.R1045*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1045*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1045*	p.R1045*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			29	3537	+			1045					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.3133C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	43	10.078881	0.99332	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	0.396	0.16309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0759	15.262	0.73631	0.6782:0.3218:0.0:0.0	.	.	.	.	X	1045;976;1045;1045;1045;1045	.	ENSP00000218089:R1045X	R	+	1	2	STAG2	123048157	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.174000	0.31932	0.105000	0.17753	-0.364000	0.07487	CGA		0.433	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123220476	C	T	123220476	4	4	168	1	0	0	0	0	0	1	0	0	15242	644	23	2	3243	2	STAG2	23	123220476	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	45976641	123220476	32050084	97	11994											
L1CAM	3897	broad.mit.edu	37	chrX	153129351	153129351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctacctgagtatttgccGcccttgctgcgcttgatgaa	7	12	11	11	2	0	3	0	3	0	0	0	3	0	3	3	1	4	4	3	1	3	5	rs201721767		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:153129351G>A	ENST00000370060.1	-	26	3633	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	L1CAM_ENST00000361981.3_Silent_p.G1143G|L1CAM_ENST00000361699.4_Silent_p.G1148G|L1CAM_ENST00000538883.1_Silent_p.G1150G|L1CAM_ENST00000543994.1_Silent_p.G1150G|L1CAM_ENST00000370057.3_Silent_p.G1148G|L1CAM_ENST00000370055.1_Silent_p.G1143G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1148					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTATTTGCCGCCCTTGCTGC	0.627																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3442-3444)ggC>ggT		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							73	57	62					X																	153129351		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129351G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3444C>T	X.37:g.153129351G>A						L1CAM_uc004fjc.3_Silent_p.G1148G|L1CAM_uc010nuo.3_Silent_p.G1143G	p.G1148G	NM_000425	NP_000416	P32004	L1CAM_HUMAN			24	3552	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1148					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3444C>T	CCDS14733.1																																																																																				0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153129351	G	A	153129351	2	1	168	1	0	0	0	0	0	0	0	1	8588	1074	38	1		1	L1CAM	23	153129351	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	29908875	153129351	2141209	98	11995											
ZNF642	339559	broad.mit.edu	37	chr1	40960711	40960711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatataatttattccacGttgagaaaagtctccacata	15	13	6	7	1	1	2	0	2	1	1	3	4	2	2	2	0	0	1	2	0	6	7			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr1:40960711G>A	ENST00000372706.1	+	6	1567	c.561G>A	c.(559-561)acG>acA	p.T187T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.T187T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTATTCCACGTTGAGAAAAG	0.398																																						uc010ojk.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13						c.(562-564)acG>acA		Homo sapiens zinc finger protein 642 (ZNF642), mRNA.							76	77	76					1																	40960711		2203	4300	6503	SO:0001819	synonymous_variant	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40960711G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.561G>A	1.37:g.40960711G>A						ZNF642_uc001cfo.3_Silent_p.T187T|ZNF642_uc009vwb.3_Silent_p.T187T	p.T188T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		5	858	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	187					Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.564G>A	CCDS30686.1																																																																																				0.398	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		A	40960711	G	A	40960711	2	1	169	1	0	0	0	0	0	0	0	1	18055	1132	40	1		1	ZNF642	1	40960711	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		40960711	208289910	1	11996											
LRPPRC	10128	broad.mit.edu	37	chr2	44152273	44152273	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcttctgtgtcagctcCactaatttttccagagtttc	9	16	6	10	0	2	1	1	0	1	1	5	1	4	1	2	0	2	3	2	0	3	6			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:44152273C>A	ENST00000260665.7	-	27	2886	c.2829G>T	c.(2827-2829)gtG>gtT	p.V943V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	943					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGTCAGCTCCACTAATTTTT	0.323																																						uc002rtr.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2827-2829)gtG>gtT		Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.							134	142	139					2																	44152273		2202	4300	6502	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44152273C>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2829G>T	2.37:g.44152273C>A						LRPPRC_uc010yob.1_Silent_p.V843V	p.V943V	NM_133259	NP_573566	P42704	LPPRC_HUMAN			26	2887	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	943					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.2829G>T	CCDS33189.1																																																																																				0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		A	44152273	C	A	44152273	2	1	169	1	0	0	0	0	0	0	0	1	8965	581	21	5		5	LRPPRC	2	44152273	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08		44152273	199047100	2	11997											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315641	73315641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgggaagagacagcttGcaaggagccagaggatggaa	15	3	16	7	1	0	2	0	0	0	2	0	8	0	6	2	4	4	2	2	4	4	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:73315641G>C	ENST00000258098.6	-	3	1345	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	369					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGACAGCTTGCAAGGAGCCA	0.617																																						uc002siu.4																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1105-1107)Caa>Gaa		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							37	42	40					2																	73315641		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315641G>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1105C>G	2.37:g.73315641G>C	ENSP00000258098:p.Gln369Glu					RAB11FIP5_uc002sit.4_Missense_Mutation_p.Q291E	p.Q369E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	1346	-			369					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1105C>G	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	4.091	0.014837	0.07959	.	.	ENSG00000135631	ENST00000258098	T	0.42131	0.98	4.19	4.19	0.49359	.	0.466103	0.20512	N	0.090869	T	0.21267	0.0512	N	0.08118	0	0.39028	D	0.959883	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09465	-1.0673	10	0.02654	T	1	-8.9315	15.6183	0.76784	0.0:0.0:1.0:0.0	.	369;369	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	E	369	ENSP00000258098:Q369E	ENSP00000258098:Q369E	Q	-	1	0	RAB11FIP5	73169149	0.962000	0.33011	0.989000	0.46669	0.096000	0.18686	3.396000	0.52565	2.335000	0.79485	0.462000	0.41574	CAA		0.617	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		C	73315641	G	C	73315641	3	2	169	1	0	0	0	0	1	0	0	0	12897	1328	46	5	868	5	RAB11FIP5	2	73315641	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	29163368	73315641	169883732	3	11998											
DNAH6	1768	broad.mit.edu	37	chr2	84777113	84777113	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcactgacaagctaaaaCgaacaccttcagcagatgtc	15	8	6	12	1	2	2	2	1	1	1	4	3	2	2	1	0	4	2	1	0	4	2	rs143013494		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:84777113C>T	ENST00000237449.6	+	8	1425	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R473*|DNAH6_ENST00000389394.3_Nonsense_Mutation_p.R473*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	473	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGCTAAAACGAACACCTTC	0.348																																						uc010fgb.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1417-1419)Cga>Tga		Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.							94	84	87					2																	84777113		2203	4300	6503	SO:0001587	stop_gained	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84777113C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1417C>T	2.37:g.84777113C>T	ENSP00000237449:p.Arg473*					DNAH6_uc002soo.3_Nonsense_Mutation_p.R52*|DNAH6_uc002sop.3_Nonsense_Mutation_p.R52*	p.R473*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			8	1554	+			473			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	c.1417C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	38	6.976240	0.97975	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	6.02	5.13	0.70059	.	0.152826	0.30920	N	0.008608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.4281	0.27111	0.302:0.6226:0.0:0.0753	.	.	.	.	X	473	.	ENSP00000237449:R473X	R	+	1	2	DNAH6	84630624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.574000	0.36482	1.530000	0.49136	0.650000	0.86243	CGA		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84777113	C	T	84777113	4	4	169	1	0	0	0	0	0	1	0	0	4605	528	19	1	1447	1	DNAH6	2	84777113	Nonsense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	11461472	84777113	158422260	4	11999											
YSK4	80122	broad.mit.edu	37	chr2	135738725	135738725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctttattattccagttgGcatgagcataacattatttc	11	16	6	8	0	0	1	0	1	0	0	2	1	1	1	1	1	3	4	1	1	4	8			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:135738725G>A	ENST00000375845.3	-	9	3616	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	MAP3K19_ENST00000392918.3_Missense_Mutation_p.P330S|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.P57S|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P378S|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P328S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P1083S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTCCAGTTGGCATGAGCATA	0.428																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3586-3588)Cca>Tca		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							131	128	129					2																	135738725		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738725G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3586C>T	2.37:g.135738725G>A	ENSP00000365005:p.Pro1196Ser					YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc021vpz.1_Missense_Mutation_p.P57S|YSK4_uc002tuh.4_Missense_Mutation_p.P924S|YSK4_uc002tui.4_3'UTR	p.P1196S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3617	-			1196			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3586C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060710	0.76074	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000317	T	0.52597	0.1744	N	0.01405	-0.89	0.80722	D	1	P;D;D;D;D	0.76494	0.905;0.999;0.991;0.991;0.992	P;D;D;D;D	0.77004	0.67;0.988;0.926;0.926;0.989	T	0.57341	-0.7828	10	0.07325	T	0.83	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	328;1083;330;378;1196	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	S	1196;1083;378;330;328;586;57	ENSP00000365005:P1196S;ENSP00000351140:P1083S;ENSP00000365004:P378S;ENSP00000376650:P330S;ENSP00000376649:P328S;ENSP00000392827:P586S;ENSP00000321160:P57S	ENSP00000321160:P57S	P	-	1	0	YSK4	135455195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.614000	0.98353	2.782000	0.95742	0.655000	0.94253	CCA		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135738725	G	A	135738725	3	1	169	1	0	0	0	0	1	0	0	0	17492	1203	42	3	408	3	YSK4	2	135738725	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	50961612	135738725	107460648	5	12000											
TTN	7273	broad.mit.edu	37	chr2	179605482	179605482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataccttctttggagaaggTtttctgggactgtacaatct	10	15	9	7	0	3	1	0	0	3	1	3	3	3	2	1	3	2	2	1	3	5	6			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:179605482T>A	ENST00000591111.1	-	46	11751	c.11527A>T	c.(11527-11529)Acc>Tcc	p.T3843S	TTN_ENST00000342175.6_Missense_Mutation_p.T3989S|TTN_ENST00000589042.1_Missense_Mutation_p.T4160S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3922S|TTN_ENST00000460472.2_Missense_Mutation_p.T3797S|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAGAAGGTTTTCTGGGAC	0.453																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							110	109	109					2																	179605482		1896	4115	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605482T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11527A>T	2.37:g.179605482T>A	ENSP00000465570:p.Thr3843Ser					TTN_uc021vsz.1_Missense_Mutation_p.T3989S|TTN_uc021vta.1_Missense_Mutation_p.T3922S|TTN_uc021vtb.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	T	9.331	1.060596	0.19987	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61859	0.15;0.08;0.07	5.36	4.2	0.49525	.	.	.	.	.	T	0.45316	0.1336	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20887	0.049;0.049;0.049	B;B;B	0.16722	0.016;0.016;0.016	T	0.41770	-0.9490	9	0.87932	D	0	.	9.0612	0.36436	0.0:0.1483:0.0:0.8517	.	3797;3922;3989	D3DPF9;E7EQE6;E7ET18	.;.;.	S	3797;3989;3922;3797	ENSP00000434586:T3797S;ENSP00000340554:T3989S;ENSP00000352154:T3922S	ENSP00000340554:T3989S	T	-	1	0	TTN	179313727	0.026000	0.19158	0.979000	0.43373	0.691000	0.40173	0.715000	0.25822	0.871000	0.35750	0.533000	0.62120	ACC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179605482	T	A	179605482	3	1	169	1	0	0	0	0	1	0	0	0	16732	1725	60	5	92311	5	TTN	2	179605482	Missense_Mutation	SNP	T	TCGA-19-5958-01A-11D-1696-08	43866757	179605482	63593891	6	12001											
CACNA1D	776	broad.mit.edu	37	chr3	53757913	53757913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttctcttcattatcAtcttttccttgcttgggatg	4	22	6	9	0	4	0	2	0	2	0	6	1	5	1	1	1	2	2	1	1	1	8			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr3:53757913A>G	ENST00000350061.5	+	14	2498	c.1987A>G	c.(1987-1989)Atc>Gtc	p.I663V	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I663V|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I683V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	663					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCATTATCATCTTTTCCTT	0.438																																						uc003dgv.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1987-1989)Atc>Gtc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	Verapamil(DB00661)						174	158	164					3																	53757913		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757913A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1987A>G	3.37:g.53757913A>G	ENSP00000288133:p.Ile663Val					CACNA1D_uc003dgu.4_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.4_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.4_Missense_Mutation_p.I330V	p.I663V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	2150	+			663					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1987A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475264	0.84640	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.68952	2.095	0.80722	D	1	D;P;P;D	0.69078	0.997;0.855;0.719;0.997	D;P;P;D	0.71184	0.972;0.67;0.573;0.952	D	0.99879	1.1110	10	0.72032	D	0.01	.	16.4416	0.83903	1.0:0.0:0.0:0.0	.	663;356;663;683	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	V	663;683;663;356	ENSP00000288133:I663V;ENSP00000288139:I683V;ENSP00000409174:I663V;ENSP00000418014:I356V	ENSP00000288139:I683V	I	+	1	0	CACNA1D	53732953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.285000	0.76669	0.477000	0.44152	ATC		0.438	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53757913	A	G	53757913	3	3	169	1	0	0	0	0	1	0	0	0	2541	217	8	4	2213	4	CACNA1D	3	53757913	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08		53757913	144264517	7	12002											
CNOT6L	246175	broad.mit.edu	37	chr4	78650009	78650009	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatattataaataccTgaatctggcaatgagttaag	17	12	8	4	0	1	3	0	3	1	0	1	4	1	3	1	1	1	2	1	1	9	5	rs533556317		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:78650009T>C	ENST00000504123.1	-	10	1381	c.1251A>G	c.(1249-1251)tcA>tcG	p.S417S	CNOT6L_ENST00000264903.4_Splice_Site_p.S417S			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	417	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATAAATACCTGAATCTGGCA	0.403																																						uc011ccd.2																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.e10+1		Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.							88	85	86					4																	78650009		1860	4099	5959	SO:0001630	splice_region_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650009T>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1252+1A>G	4.37:g.78650009T>C						CNOT6L_uc003hks.3_Splice_Site_p.G418_splice|CNOT6L_uc003hkt.1_Splice_Site_p.G261_splice	p.G418_splice	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			10	1383	-			418					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.1252_splice		.	.	.	.	.	.	.	.	.	.	T	13.65	2.299934	0.40694	.	.	ENSG00000138767	ENST00000515506	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.71813	0.3384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71159	-0.4674	4	.	.	.	-2.3794	15.7114	0.77631	0.0:0.0:0.0:1.0	.	.	.	.	G	446	.	.	R	-	1	2	CNOT6L	78869033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.246000	0.32803	2.122000	0.65172	0.460000	0.39030	AGG		0.403	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1		Silent	C	78650009	T	C	78650009	5	2	169	1	0	0	0	0	0	0	1	0	3623	1594	55	4	428	4	CNOT6L	4	78650009	Splice_Site	SNP	T	TCGA-19-5958-01A-11D-1696-08		78650009	112504267	8	12003											
FRAS1	80144	broad.mit.edu	37	chr4	79236756	79236756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccttagcttgtgacCaatcctgtgacagttgtggc	6	12	10	13	0	0	2	0	2	0	0	2	2	2	2	5	1	1	2	5	1	2	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:79236756C>A	ENST00000325942.6	+	16	2127	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	FRAS1_ENST00000264895.6_Missense_Mutation_p.Q563K|FRAS1_ENST00000264899.6_Missense_Mutation_p.Q563K	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	563					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTTGTGACCAATCCTGTGA	0.478																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1687-1689)Caa>Aaa		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							188	175	179					4																	79236756		1937	4143	6080	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79236756C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1687C>A	4.37:g.79236756C>A	ENSP00000326330:p.Gln563Lys					FRAS1_uc003hkw.3_Missense_Mutation_p.Q563K|FRAS1_uc003hky.1_Missense_Mutation_p.Q267K|FRAS1_uc003hkz.3_Missense_Mutation_p.Q267K|FRAS1_uc003hla.1_Missense_Mutation_p.Q74K	p.Q563K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			15	2127	+			563					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1687C>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.794|7.794	0.712293|0.712293	0.15306|0.15306	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895;ENST00000264899	.|T;T;T	.|0.43688	.|0.94;0.94;0.94	5.86|5.86	5.01|5.01	0.66863|0.66863	.|Growth factor, receptor (1);	.|0.320758	.|0.33309	.|N	.|0.005046	T|T	0.27384|0.27384	0.0672|0.0672	L|L	0.31664|0.31664	0.95|0.95	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.28552	.|0.215;0.215;0.06;0.017	.|B;B;B;B	.|0.29353	.|0.101;0.065;0.07;0.017	T|T	0.08932|0.08932	-1.0698|-1.0698	5|10	.|0.31617	.|T	.|0.26	.|.	5.7043|5.7043	0.17899|0.17899	0.0:0.6744:0.1687:0.1569|0.0:0.6744:0.1687:0.1569	.|.	.|563;563;563;563	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	Q|K	405|563	.|ENSP00000326330:Q563K;ENSP00000264895:Q563K;ENSP00000264899:Q563K	.|ENSP00000264895:Q563K	P|Q	+|+	2|1	0|0	FRAS1|FRAS1	79455780|79455780	0.002000|0.002000	0.14202|0.14202	0.895000|0.895000	0.35142|0.35142	0.016000|0.016000	0.09150|0.09150	0.588000|0.588000	0.23924|0.23924	2.771000|2.771000	0.95319|0.95319	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.478	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79236756	C	A	79236756	3	1	169	1	0	0	0	0	1	0	0	0	6042	595	21	5	1749	5	FRAS1	4	79236756	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	586747	79236756	111917520	9	12004											
HCN1	348980	broad.mit.edu	37	chr5	45303842	45303842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggttgaaacacctcaaAtctcaacttgctcagcatgg	12	10	7	12	0	3	1	3	1	1	0	5	1	4	1	2	2	4	3	2	2	3	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:45303842A>T	ENST00000303230.4	-	6	1534	c.1477T>A	c.(1477-1479)Ttt>Att	p.F493I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	493					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AACACCTCAAATCTCAACTTG	0.413																																						uc003jok.3																			0		p.R492K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1477-1479)Ttt>Att		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							119	121	120					5																	45303842		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303842A>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1477T>A	5.37:g.45303842A>T	ENSP00000307342:p.Phe493Ile						p.F493I	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1502	-			493						Missense_Mutation	SNP	ENST00000303230.4	37	c.1477T>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	31	5.090364	0.94149	.	.	ENSG00000164588	ENST00000303230	D	0.96459	-4.02	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.96873	0.8979	M	0.80616	2.505	0.80722	D	1	P	0.52170	0.951	P	0.49140	0.601	D	0.97054	0.9766	10	0.56958	D	0.05	.	16.1172	0.81314	1.0:0.0:0.0:0.0	.	493	O60741	HCN1_HUMAN	I	493	ENSP00000307342:F493I	ENSP00000307342:F493I	F	-	1	0	HCN1	45339599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.235000	0.95353	2.266000	0.75297	0.533000	0.62120	TTT		0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45303842	A	T	45303842	3	4	169	1	0	0	0	0	1	0	0	0	6996	101	4	5	1207	5	HCN1	5	45303842	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08		45303842	135611418	10	12005											
PLK2	10769	broad.mit.edu	37	chr5	57754862	57754862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaggaataatttttgCggcgtagactttgttatttg	8	17	12	4	2	0	2	0	1	0	1	0	3	0	3	0	2	1	3	0	2	4	7			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:57754862C>T	ENST00000274289.3	-	2	628	c.328G>A	c.(328-330)Gca>Aca	p.A110T	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.A110T(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATAATTTTTGCGGCGTAGACT	0.423																																						uc003jrn.3																			1	Substitution - Missense(1)	p.A110T(2)	prostate(1)	endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(328-330)Gca>Aca		Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.							198	201	200					5																	57754862		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57754862C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.328G>A	5.37:g.57754862C>T	ENSP00000274289:p.Ala110Thr					PLK2_uc021xyx.1_Missense_Mutation_p.A96T|PLK2_uc011cql.1_Missense_Mutation_p.A12T	p.A110T	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	508	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	110			Protein kinase.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.328G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672022	0.96754	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.24908	1.83	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.45470	1.425	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.57425	0.649;0.82	T	0.01444	-1.1353	10	0.40728	T	0.16	-18.6972	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12;110	B7Z9B4;Q9NYY3	.;PLK2_HUMAN	T	110;110;96	ENSP00000274289:A110T	ENSP00000274289:A110T	A	-	1	0	PLK2	57790619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.941000	0.99782	0.655000	0.94253	GCA		0.423	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		T	57754862	C	T	57754862	3	4	169	1	0	0	0	0	1	0	0	0	12096	768	27	1	1781	1	PLK2	5	57754862	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	12451020	57754862	123160398	11	12006											
PIK3R1	5295	broad.mit.edu	37	chr5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagggggaaataacaaAttaatcaaaatatttcatcg	20	9	8	4	1	2	0	2	0	0	0	3	2	2	2	0	3	1	0	0	3	8	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:67589149A>T	ENST00000521381.1	+	10	1753	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_ENST00000396611.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K16N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K79N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K379N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K109N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1137)aaA>aaT		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						53	59	57					5																	67589149		2187	4295	6482	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589149A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1137A>T	5.37:g.67589149A>T	ENSP00000428056:p.Lys379Asn	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	p.K379N	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1717	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1137A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982589	0.74474	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.2	2.78	0.32641	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.995;0.999	D	0.94107	0.7367	10	0.87932	D	0	-33.0253	9.9875	0.41849	0.8618:0.0:0.1382:0.0	.	49;109;79;379	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	N	379;379;379;379;109;79;16;109;52;16	ENSP00000428056:K379N;ENSP00000429277:K379N;ENSP00000379855:K379N;ENSP00000274335:K379N;ENSP00000430126:K109N;ENSP00000323512:K79N;ENSP00000431058:K16N;ENSP00000338554:K109N;ENSP00000429156:K52N;ENSP00000430098:K16N	ENSP00000274335:K379N	K	+	3	2	PIK3R1	67624905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	0.516000	0.28340	0.454000	0.30748	AAA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67589149	A	T	67589149	3	4	169	1	0	0	0	0	1	0	0	0	11918	98	4	5	1301	5	PIK3R1	5	67589149	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08	9834287	67589149	113326111	12	12007											
TGFBI	7045	broad.mit.edu	37	chr5	135385160	135385160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcagggctcaacacgatGcttgaaggtaacggccagta	12	7	12	10	2	2	1	2	1	0	0	2	2	2	1	1	3	3	5	1	3	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:135385160G>T	ENST00000442011.2	+	7	965	c.804G>T	c.(802-804)atG>atT	p.M268I	TGFBI_ENST00000305126.8_Missense_Mutation_p.M268I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	268	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACACGATGCTTGAAGGTA	0.567																																						uc003lbf.4																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(802-804)atG>atT		Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.							58	64	62					5																	135385160		2067	4198	6265	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135385160G>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.804G>T	5.37:g.135385160G>T	ENSP00000416330:p.Met268Ile					TGFBI_uc003lbg.4_Missense_Mutation_p.M1I|TGFBI_uc003lbh.4_Missense_Mutation_p.M94I|TGFBI_uc011cyb.2_Missense_Mutation_p.M94I	p.M268I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	965	+			268			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.804G>T	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.823|6.823	0.520944|0.520944	0.13005|0.13005	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.90563	.|-2.69;-2.69	5.94|5.94	3.96|3.96	0.45880|0.45880	.|FAS1 domain (4);	.|0.547716	.|0.19797	.|N	.|0.105821	T|T	0.78130|0.78130	0.4235|0.4235	N|N	0.04746|0.04746	-0.17|-0.17	0.31219|0.31219	N|N	0.697666|0.697666	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.004;0.003	T|T	0.71988|0.71988	-0.4426|-0.4426	5|10	.|0.45353	.|T	.|0.12	-34.9571|-34.9571	7.1972|7.1972	0.25860|0.25860	0.0712:0.1208:0.683:0.1249|0.0712:0.1208:0.683:0.1249	.|.	.|1;268	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	S|I	44|268;1;268	.|ENSP00000416330:M268I;ENSP00000306306:M268I	.|ENSP00000306306:M268I	A|M	+|+	1|3	0|0	TGFBI|TGFBI	135413059|135413059	1.000000|1.000000	0.71417|0.71417	0.627000|0.627000	0.29227|0.29227	0.050000|0.050000	0.14768|0.14768	2.102000|2.102000	0.41796|0.41796	0.694000|0.694000	0.31654|0.31654	0.561000|0.561000	0.74099|0.74099	GCT|ATG		0.567	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			T	135385160	G	T	135385160	3	4	169	1	0	0	0	0	1	0	0	0	15817	1319	46	5	830	5	TGFBI	5	135385160	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	67796011	135385160	45530100	13	12008											
NDST1	3340	broad.mit.edu	37	chr5	149925000	149925000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcttgcccaaagccaaggtCctgaccatcctcatcaaccc	10	8	5	18	0	3	1	2	1	1	0	5	1	5	1	6	1	3	0	6	1	3	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:149925000C>T	ENST00000261797.6	+	11	2599	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	NDST1_ENST00000523767.1_Silent_p.V699V|snoU13_ENST00000459561.1_RNA	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	699	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGTCCTGACCATCC	0.612																																						uc003lsk.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2095-2097)gtC>gtT		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.							116	131	126					5																	149925000		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149925000C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2097C>T	5.37:g.149925000C>T						NDST1_uc011dcj.2_Silent_p.V699V	p.V699V	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2599	+		all_hematologic(541;0.224)	699			Heparan sulfate N-sulfotransferase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.2097C>T	CCDS34277.1																																																																																				0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		T	149925000	C	T	149925000	2	4	169	1	0	0	0	0	0	0	0	1	10255	842	30	3		3	NDST1	5	149925000	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08	14539840	149925000	30990260	14	12009											
ANXA6	309	broad.mit.edu	37	chr5	150512089	150512089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagctcccctcggatgctGgcttcaatcggcttccctgt	5	11	10	15	2	1	0	1	0	0	0	5	2	3	1	3	3	2	4	3	3	1	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:150512089G>A	ENST00000354546.5	-	10	911	c.684C>T	c.(682-684)gcC>gcT	p.A228A	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Silent_p.A196A|ANXA6_ENST00000356496.5_Silent_p.A228A|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	228					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGATGCTGGCTTCAATCG	0.542																																						uc003ltl.2																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(682-684)gcC>gcT		Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.							52	53	52					5																	150512089		1931	4137	6068	SO:0001819	synonymous_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512089G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.684C>T	5.37:g.150512089G>A						ANXA6_uc011dcp.2_Silent_p.A196A|ANXA6_uc003lto.2_Intron	p.A228A	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	912	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	228					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	c.684C>T	CCDS47315.1																																																																																				0.542	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		A	150512089	G	A	150512089	2	1	169	1	0	0	0	0	0	0	0	1	722	1335	47	3		3	ANXA6	5	150512089	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	587089	150512089	30403171	15	12010											
DOCK2	1794	broad.mit.edu	37	chr5	169098173	169098174	+	Frame_Shift_Del	DEL	TA	TA	-																															gaagcatctggaaacaactcTatgtggtgagactcagaact																										TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:169098173_169098174delTA	ENST00000256935.8	+	5	396_397	c.316_317delTA	c.(316-318)tatfs	p.Y106fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	106					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAACAACTCTATGTGGTGAGA	0.441																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(316-318)tatfs		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.																																				SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169098173_169098174delTA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.316_317delTA	5.37:g.169098173_169098174delTA	ENSP00000256935:p.Tyr106fs					DOCK2_uc011der.2_Non-coding_Transcript	p.Y106fs	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	396_397	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	106					Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	37	c.316_317delTA	CCDS4371.1																																																																																				0.441	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		-	169098174	TA	-	169098173	7	5	169	1	0	1	0	1	0	0	0	0	4687	1522	53	0	334	0	DOCK2	5	169098173	Frame_Shift_Del	DEL	TA	TCGA-19-5958-01A-11D-1696-08	18586084	169098173	11817087	16	12011											
PRSS16	10279	broad.mit.edu	37	chr6	27222902	27222902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcccccagcctccgcctaGggcgccaggtaagagaaaaa	12	4	10	15	2	0	1	0	0	0	1	2	2	2	1	6	2	1	1	6	2	4	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:27222902G>T	ENST00000230582.3	+	11	1483	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.G233W	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	490					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCGCCTAGGGCGCCAGGT	0.507																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1468-1470)Ggg>Tgg		Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.							77	86	83					6																	27222902		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222902G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1468G>T	6.37:g.27222902G>T	ENSP00000230582:p.Gly490Trp					PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.G233W|PRSS16_uc003njd.3_Non-coding_Transcript	p.G490W	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			10	1483	+			490					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1468G>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586576	0.66105	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14640	2.49;2.49	4.35	4.35	0.52113	.	0.110120	0.64402	D	0.000017	T	0.25232	0.0613	M	0.65975	2.015	0.34165	D	0.669149	D;D	0.76494	0.999;0.998	D;D	0.71870	0.975;0.938	T	0.02457	-1.1156	10	0.87932	D	0	-10.7244	14.8169	0.70041	0.0:0.0:1.0:0.0	.	233;490	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	W	233;490	ENSP00000404349:G233W;ENSP00000230582:G490W	ENSP00000230582:G490W	G	+	1	0	PRSS16	27330881	0.664000	0.27457	0.496000	0.27539	0.925000	0.55904	4.412000	0.59787	2.440000	0.82611	0.552000	0.68991	GGG		0.507	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			T	27222902	G	T	27222902	3	4	169	1	0	0	0	0	1	0	0	0	12616	1000	35	5	1510	5	PRSS16	6	27222902	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		27222902	143892165	17	12012											
MSH5	4439	broad.mit.edu	37	chr6	31721395	31721395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaggtcagcgactggcagGttctctacaaggtaaggcct	10	8	12	11	1	2	0	1	0	1	0	3	1	2	0	2	5	2	3	2	5	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:31721395G>T	ENST00000375755.3	+	12	1289	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F	MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.V352F|MSH5_ENST00000534153.4_Missense_Mutation_p.V352F|MSH5_ENST00000375742.3_Missense_Mutation_p.V352F|MSH5_ENST00000431848.2_Missense_Mutation_p.V34F|MSH5_ENST00000375703.3_Missense_Mutation_p.V335F|MSH5_ENST00000375740.3_Missense_Mutation_p.V352F|MSH5_ENST00000375750.3_Missense_Mutation_p.V335F|MSH5_ENST00000395853.1_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	335					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CGACTGGCAGGTTCTCTACAA	0.493								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwu.2																			0				breast(1)|ovary(2)|skin(2)	5						c.(1003-1005)Gtt>Ttt	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.							100	90	94					6																	31721395		2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31721395G>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1003G>T	6.37:g.31721395G>T	ENSP00000364908:p.Val335Phe					MSH5_uc003nwx.2_Missense_Mutation_p.V352F|MSH5_uc003nwv.2_Missense_Mutation_p.V335F|MSH5_uc003nww.2_Missense_Mutation_p.V335F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	p.V335F	NM_172165	NP_751897	O43196	MSH5_HUMAN			11	1131	+			335					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1003G>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733661	0.30684	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848	D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.04	1.05	0.20165	DNA mismatch repair protein MutS, core (3);	0.431350	0.23197	N	0.050824	T	0.61776	0.2374	N	0.08118	0	0.31260	N	0.6929879999999999	B;B;B;B	0.11235	0.001;0.003;0.001;0.004	B;B;B;B	0.11329	0.006;0.006;0.005;0.006	T	0.49103	-0.8974	9	0.46703	T	0.11	-15.636	4.271	0.10787	0.2819:0.0:0.5544:0.1637	.	352;335;335;352	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	F	335;352;335;352;335;352;172;34	ENSP00000364908:V335F;ENSP00000364894:V352F;ENSP00000364903:V335F;ENSP00000431693:V352F;ENSP00000364855:V335F;ENSP00000364892:V352F;ENSP00000394971:V172F;ENSP00000416784:V34F	ENSP00000364855:V335F	V	+	1	0	MSH5	31829374	0.997000	0.39634	0.996000	0.52242	0.992000	0.81027	2.300000	0.43620	0.531000	0.28639	0.462000	0.41574	GTT		0.493	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			T	31721395	G	T	31721395	3	4	169	1	0	0	0	0	1	0	0	0	9873	1261	44	5	1096	5	MSH5	6	31721395	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	4498493	31721395	139393672	18	12013											
ANKRD6	22881	broad.mit.edu	37	chr6	90333750	90333750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagctctacacattgtacCggggcaaggatgggaaagtg	12	8	13	8	1	2	0	1	0	1	0	2	2	2	2	1	4	3	3	1	4	4	3	rs375712466		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:90333750C>T	ENST00000522441.1	+	12	1833	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	ANKRD6_ENST00000339746.4_Missense_Mutation_p.R398W|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R363W|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R398W|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R339W	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	398					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CACATTGTACCGGGGCAAGGA	0.522																																						uc003pni.4																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1192-1194)Cgg>Tgg		Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.							54	55	55					6																	90333750		2028	4177	6205	SO:0001583	missense	22881						protein binding	g.chr6:90333750C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1192C>T	6.37:g.90333750C>T	ENSP00000430985:p.Arg398Trp					ANKRD6_uc003pne.4_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.4_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.2_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.3_Missense_Mutation_p.R339W|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR	p.R398W	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	11	1533	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	398					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1192C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.127639|4.127639	0.77549|0.77549	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793	.|T;T;T;T;T	.|0.76316	.|0.54;0.71;0.66;0.71;-1.01	6.02|6.02	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.83326|0.83326	0.5230|0.5230	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.928;0.991;0.996;0.996	D|D	0.86187|0.86187	0.1610|0.1610	5|10	.|0.87932	.|D	.|0	-29.4865|-29.4865	14.1677|14.1677	0.65488|0.65488	0.2724:0.7276:0.0:0.0|0.2724:0.7276:0.0:0.0	.|.	.|339;398;363;398	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	L|W	22|363;398;398;398;139;339	.|ENSP00000358416:R363W;ENSP00000345767:R398W;ENSP00000396771:R398W;ENSP00000430985:R398W;ENSP00000429782:R339W	.|ENSP00000345767:R398W	P|R	+|+	2|1	0|2	ANKRD6|ANKRD6	90390471|90390471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	0.989000|0.989000	0.29629|0.29629	1.510000|1.510000	0.48803|0.48803	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.522	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			T	90333750	C	T	90333750	3	4	169	1	0	0	0	0	1	0	0	0	685	643	23	2	1234	2	ANKRD6	6	90333750	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	58612355	90333750	80781317	19	12014											
SLC22A3	6581	broad.mit.edu	37	chr6	160819102	160819102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagcattcaccttaggctAtgcagcagacaggtaggtac	11	9	12	9	0	1	1	1	0	0	1	1	2	1	2	1	4	4	6	1	4	4	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:160819102A>G	ENST00000275300.2	+	2	673	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	SLC22A3_ENST00000392145.1_Missense_Mutation_p.Y174C	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	174					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	ACCTTAGGCTATGCAGCAGAC	0.433																																						uc003qti.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(520-522)tAt>tGt		Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.							163	148	153					6																	160819102		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160819102A>G	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.521A>G	6.37:g.160819102A>G	ENSP00000275300:p.Tyr174Cys					SLC22A3_uc011efx.2_Non-coding_Transcript	p.Y174C	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	1	548	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	174					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.521A>G	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492418	0.64074	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.59906	0.23;0.23	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	T	0.72120	0.3421	M	0.85462	2.755	0.58432	D	0.999996	D	0.89917	1.0	D	0.79108	0.992	T	0.75190	-0.3405	10	0.42905	T	0.14	.	14.2977	0.66325	1.0:0.0:0.0:0.0	.	174	O75751	S22A3_HUMAN	C	174	ENSP00000275300:Y174C;ENSP00000375989:Y174C	ENSP00000275300:Y174C	Y	+	2	0	SLC22A3	160739092	1.000000	0.71417	0.864000	0.33941	0.616000	0.37450	6.368000	0.73104	2.110000	0.64415	0.528000	0.53228	TAT		0.433	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		G	160819102	A	G	160819102	3	3	169	1	0	0	0	0	1	0	0	0	14455	449	16	4	527	4	SLC22A3	6	160819102	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08	70485352	160819102	10295965	20	12015											
ABCB1	5243	broad.mit.edu	37	chr7	87135283	87135283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgaggctgtctaacaaggGcacgagctatggcaatgcgt	11	9	13	8	2	1	1	0	1	1	0	1	2	1	1	0	3	3	4	0	3	5	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:87135283G>A	ENST00000265724.3	-	28	3983	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V	ABCB1_ENST00000543898.1_Missense_Mutation_p.A1125V|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1189	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTAACAAGGGCACGAGCTAT	0.403																																						uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3565-3567)gCc>gTc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						176	161	166					7																	87135283		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87135283G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3566C>T	7.37:g.87135283G>A	ENSP00000265724:p.Ala1189Val					ABCB1_uc011khc.2_Missense_Mutation_p.A1125V	p.A1189V	NM_000927	NP_000918	P08183	MDR1_HUMAN			27	4059	-	Esophageal squamous(14;0.00164)		1189			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3566C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	36	5.776267	0.96922	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92965	-3.14;-3.14	5.94	5.94	0.96194	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95788	0.8822	10	0.87932	D	0	-20.3932	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1125;1189	B5AK60;P08183	.;MDR1_HUMAN	V	970;1189;1125	ENSP00000265724:A1189V;ENSP00000444095:A1125V	ENSP00000265724:A1189V	A	-	2	0	ABCB1	86973219	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	9.853000	0.99521	2.820000	0.97059	0.650000	0.86243	GCC		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87135283	G	A	87135283	3	1	169	1	0	0	0	0	1	0	0	0	40	1203	42	3	284	3	ABCB1	7	87135283	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		87135283	72003380	21	12016											
MLL3	58508	broad.mit.edu	37	chr7	151970848	151970848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatgtgactgaaatcCtgaaaggtgccggctcctgc	11	8	13	9	1	0	4	0	3	0	1	2	5	2	5	3	3	2	1	3	3	3	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:151970848C>A	ENST00000262189.6	-	7	1172	c.954G>T	c.(952-954)caG>caT	p.Q318H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q318H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	318					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GACTGAAATCCTGAAAGGTGC	0.423																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(952-954)caG>caT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							261	244	250					7																	151970848		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970848C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.954G>T	7.37:g.151970848C>A	ENSP00000262189:p.Gln318His						p.Q318H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	6	1173	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	318					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.954G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839726	0.32513	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70869	-0.52;-0.52	4.87	3.99	0.46301	Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.164580	0.28442	N	0.015327	T	0.73001	0.3531	M	0.82923	2.615	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.71265	-0.4644	10	0.35671	T	0.21	.	15.6338	0.76933	0.0:0.8621:0.1379:0.0	.	318	Q8NEZ4	MLL3_HUMAN	H	318	ENSP00000262189:Q318H;ENSP00000347325:Q318H	ENSP00000262189:Q318H	Q	-	3	2	MLL3	151601781	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.294000	0.51787	1.203000	0.43233	-0.127000	0.14921	CAG		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151970848	C	A	151970848	3	1	169	1	0	0	0	0	1	0	0	0	9622	680	24	5	13993	5	MLL3	7	151970848	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	64835565	151970848	7167815	22	12017											
SAMD12	401474	broad.mit.edu	37	chr8	119593041	119593041	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatttttaatggattgAgattccacaccttcaccttc	9	19	4	9	0	1	1	1	1	0	1	3	3	2	2	3	1	0	0	3	1	2	10			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:119593041A>T	ENST00000314727.4	-	2	241	c.105T>A	c.(103-105)tcT>tcA	p.S35S	SAMD12_ENST00000409003.4_Silent_p.S35S	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	35										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAATGGATTGAGATTCCACAC	0.453																																						uc003yom.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(103-105)tcT>tcA		Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.							72	70	71					8																	119593041		2203	4299	6502	SO:0001819	synonymous_variant	401474							g.chr8:119593041A>T	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.105T>A	8.37:g.119593041A>T						SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_Non-coding_Transcript	p.S35S	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		1	234	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		35					Q0P502	Silent	SNP	ENST00000314727.4	37	c.105T>A	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.181|2.181	-0.387650|-0.387650	0.04932|0.04932	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000526765|ENST00000453675	.|.	.|.	.|.	5.32|5.32	2.91|2.91	0.33838|0.33838	.|.	.|0.310296	.|0.31554	.|N	.|0.007445	T|T	0.47002|0.47002	0.1422|0.1422	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29640|0.29640	-1.0005|-1.0005	4|5	.|.	.|.	.|.	-3.2544|-3.2544	4.1615|4.1615	0.10285|0.10285	0.6116:0.1724:0.216:0.0|0.6116:0.1724:0.216:0.0	.|.	.|.	.|.	.|.	H|T	50|32	.|.	.|.	L|S	-|-	2|1	0|0	SAMD12|SAMD12	119662222|119662222	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.085000|0.085000	0.17905|0.17905	0.418000|0.418000	0.21230|0.21230	0.337000|0.337000	0.23665|0.23665	0.460000|0.460000	0.39030|0.39030	CTC|TCA		0.453	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		T	119593041	A	T	119593041	2	4	169	1	0	0	0	0	0	0	0	1	13817	291	11	5		5	SAMD12	8	119593041	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08		119593041	26770981	23	12018											
TBC1D2	55357	broad.mit.edu	37	chr9	100971301	100971301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgctccctcagcggcCgatccacagcctcgaggccc	6	4	10	21	4	1	0	1	0	0	0	4	2	3	0	6	2	3	1	6	2	0	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr9:100971301C>T	ENST00000375064.1	-	9	1837	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	TBC1D2_ENST00000375066.5_Missense_Mutation_p.R600Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R140Q|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R382Q	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	600					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCAGCGGCCGATCCACAGC	0.652																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1798-1800)cGg>cAg		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							97	103	101					9																	100971301		2202	4299	6501	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971301C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1799G>A	9.37:g.100971301C>T	ENSP00000364205:p.Arg600Gln					TBC1D2_uc004ayp.3_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.3_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.3_Missense_Mutation_p.R382Q	p.R600Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	8	1979	-		Myeloproliferative disorder(762;0.0255)	600					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1799G>A		.	.	.	.	.	.	.	.	.	.	C	14.81	2.645121	0.47258	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.08102	3.42;3.13;3.53;3.15	5.71	4.7	0.59300	.	0.347806	0.31010	N	0.008427	T	0.05823	0.0152	L	0.51422	1.61	0.37797	D	0.927577	B;B	0.32203	0.246;0.36	B;B	0.17722	0.008;0.019	T	0.32481	-0.9905	10	0.14252	T	0.57	.	3.8674	0.09022	0.0:0.529:0.0:0.471	.	600;600	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	600;600;382;140	ENSP00000364205:R600Q;ENSP00000364207:R600Q;ENSP00000341567:R382Q;ENSP00000364203:R140Q	ENSP00000341567:R382Q	R	-	2	0	TBC1D2	100011122	0.842000	0.29525	0.998000	0.56505	0.948000	0.59901	0.437000	0.21543	1.358000	0.45922	0.561000	0.74099	CGG		0.652	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		T	100971301	C	T	100971301	3	4	169	1	0	0	0	0	1	0	0	0	15605	652	23	2	974	2	TBC1D2	9	100971301	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		100971301	40242130	24	12019											
PRKG1	5592	broad.mit.edu	37	chr10	54053584	54053584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcacccacagacacaaGtaattttgacagtttccctg	12	11	6	12	0	1	2	1	1	0	1	2	2	2	2	2	0	1	3	2	0	2	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:54053584G>A	ENST00000401604.2	+	18	2134	c.1940G>A	c.(1939-1941)aGt>aAt	p.S647N	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.S365N|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.S662N|PRKG1_ENST00000373985.1_Missense_Mutation_p.S635N			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	647	AGC-kinase C-terminal.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACAGACACAAGTAATTTTGAC	0.388																																						uc001jjm.3																			0		p.L647L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1939-1941)aGt>aAt		Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.							153	141	145					10																	54053584		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54053584G>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1940G>A	10.37:g.54053584G>A	ENSP00000384200:p.Ser647Asn					PRKG1_uc001jjo.3_Missense_Mutation_p.S662N|PRKG1_uc009xow.2_Missense_Mutation_p.S365N|LOC100506939_uc021pqu.1_Intron	p.S647N	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	17	2168	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	647			AGC-kinase C-terminal.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1940G>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142378	0.77888	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.08807	3.05;3.05;3.05	5.69	5.69	0.88448	AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.82193	2.58	0.80722	D	1	B;P;P	0.49358	0.011;0.821;0.923	B;P;P	0.51777	0.143;0.679;0.548	T	0.01018	-1.1479	10	0.87932	D	0	-19.8244	19.776	0.96393	0.0:0.0:1.0:0.0	.	365;662;647	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	N	647;635;662;365;259	ENSP00000384200:S647N;ENSP00000363097:S635N;ENSP00000363092:S662N	ENSP00000327642:S365N	S	+	2	0	PRKG1	53723590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.840000	0.97914	0.655000	0.94253	AGT		0.388	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	54053584	G	A	54053584	3	1	169	1	0	0	0	0	1	0	0	0	12522	1029	36	3	2325	3	PRKG1	10	54053584	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		54053584	81481163	25	12020											
RRP12	23223	broad.mit.edu	37	chr10	99130292	99130292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcttccgtgcgcccaccGacacctccttggtgcacagg	5	9	10	17	4	1	0	0	0	1	0	3	1	3	0	5	2	2	2	5	2	0	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:99130292G>A	ENST00000370992.4	-	23	2720	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	RRP12_ENST00000536831.1_Missense_Mutation_p.S588L|RRP12_ENST00000315563.6_Missense_Mutation_p.S770L|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.S809L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	870						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.S870L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCGCCCACCGACACCTCCTT	0.612																																						uc001knf.3																			1	Substitution - Missense(1)	p.S870L(2)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2608-2610)tCg>tTg		Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.							108	82	91					10																	99130292		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99130292G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2609C>T	10.37:g.99130292G>A	ENSP00000360031:p.Ser870Leu					RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.S588L|RRP12_uc010qou.2_Missense_Mutation_p.S809L|RRP12_uc009xvn.3_Missense_Mutation_p.S770L	p.S870L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	22	2748	-		Colorectal(252;0.162)	870					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2609C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026941	0.75390	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.995	P;D;P;P	0.64595	0.866;0.927;0.899;0.738	D	0.83471	0.0059	10	0.87932	D	0	-7.8431	17.6528	0.88169	0.0:0.0:1.0:0.0	.	809;770;588;870	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	870;770;809;588	ENSP00000360031:S870L;ENSP00000324315:S770L;ENSP00000414863:S809L;ENSP00000446184:S588L	ENSP00000324315:S770L	S	-	2	0	RRP12	99120282	1.000000	0.71417	0.942000	0.38095	0.392000	0.30506	9.488000	0.97947	2.174000	0.68829	0.313000	0.20887	TCG		0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99130292	G	A	99130292	3	1	169	1	0	0	0	0	1	0	0	0	13686	1059	37	2	1332	2	RRP12	10	99130292	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	45076708	99130292	36404455	26	12021											
RIC8A	60626	broad.mit.edu	37	chr11	209871	209871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgacacactggagctgacGctgggggtgactcctgaagg	9	7	15	10	1	0	4	0	4	0	0	1	5	1	5	1	4	1	2	1	4	1	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:209871G>A	ENST00000526104.1	+	3	1941	c.597G>A	c.(595-597)acG>acA	p.T199T	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000325207.5_Silent_p.T199T|BET1L_ENST00000382762.3_5'Flank|RIC8A_ENST00000527696.1_Silent_p.T193T|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	199					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGCTGACGCTGGGGGTGA	0.602																																						uc001lof.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(595-597)acG>acA		Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.							51	47	48					11																	209871		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209871G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.597G>A	11.37:g.209871G>A						BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.T199T|RIC8A_uc001loh.3_Silent_p.T192T	p.T199T	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	922	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	199					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	G	8.707	0.911232	0.17833	.	.	ENSG00000177963	ENST00000527728	.	.	.	4.45	-8.05	0.01106	.	.	.	.	.	T	0.35941	0.0949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41484	-0.9506	4	.	.	.	-27.3145	3.4667	0.07552	0.2705:0.4499:0.1149:0.1648	.	.	.	.	H	81	.	.	R	+	2	0	RIC8A	199871	0.000000	0.05858	0.313000	0.25210	0.656000	0.38851	-6.581000	0.00060	-1.414000	0.02025	-0.305000	0.09177	CGC		0.602	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		A	209871	G	A	209871	2	1	169	1	0	0	0	0	0	0	0	1	13355	1074	38	1		1	RIC8A	11	209871	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		209871	134796645	27	12022											
OR52A4	390053	broad.mit.edu	37	chr11	5142008	5142008	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatataagatccaaatctgCgagtaaaaaatgaaaaaaaa	23	7	7	4	1	1	2	0	1	1	1	2	4	2	3	1	1	1	1	1	1	10	3	rs532765750		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:5142008C>T	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCCAAATCTGCGAGTAAAAAA	0.368													c|||	1	0.000199681	8e-04	0	5008	,	,		18243	0		0	False		,,,				2504	0																								0																				75	82	80					11																	5142008		2201	4298	6499			390053							g.chr11:5142008C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142008C>T						OR52E2 (61151 upstream) : DQ656008 (377 downstream)																			Silent	SNP	ENST00000498233.1	37																																																																																						0.368	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		T	5142008	C	T	5142008	1	4	169	0	1	0	0	0	0	0	0	0	11109	755	27	1		1	OR52A4	11	5142008	RNA	SNP	C	TCGA-19-5958-01A-11D-1696-08	4932137	5142008	129864508	28	12023											
MMP3	4314	broad.mit.edu	37	chr11	102709358	102709358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatcgattttcctcaCggttggagggaaacctaggg	8	10	14	9	2	1	0	1	0	0	0	3	3	2	2	2	5	2	3	2	5	2	4	rs202217886	byFrequency	TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:102709358C>T	ENST00000299855.5	-	8	1409	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	385					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATTTTCCTCACGGTTGGAGGG	0.403													C|||	4	0.000798722	0	0	5008	,	,		18443	0		0	False		,,,				2504	0.0041					uc001phj.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1153-1155)Gtg>Atg		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)	C	MET/VAL	0,4406		0,0,2203	126	119	121		1153	-1.5	0	11		121	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MMP3	NM_002422.3	21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	385/478	102709358	1,13003	2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709358C>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1153G>A	11.37:g.102709358C>T	ENSP00000299855:p.Val385Met					DD413629_uc021qpi.1_5'Flank	p.V385M	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1218	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	385					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1153G>A	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455151	0.26161	0.0	1.16E-4	ENSG00000149968	ENST00000299855	T	0.15952	2.38	5.07	-1.55	0.08558	Hemopexin/matrixin (2);	0.000000	0.30676	U	0.009112	T	0.36110	0.0955	M	0.84846	2.72	0.20703	N	0.999862	D	0.62365	0.991	P	0.59889	0.865	T	0.28839	-1.0031	10	0.87932	D	0	.	11.5326	0.50618	0.0:0.5499:0.0:0.4501	.	385	P08254	MMP3_HUMAN	M	385	ENSP00000299855:V385M	ENSP00000299855:V385M	V	-	1	0	MMP3	102214568	0.003000	0.15002	0.000000	0.03702	0.024000	0.10985	0.102000	0.15272	-0.356000	0.08187	0.591000	0.81541	GTG		0.403	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		T	102709358	C	T	102709358	3	4	169	1	0	0	0	0	1	0	0	0	9666	536	19	1	292	1	MMP3	11	102709358	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	97567350	102709358	32297158	29	12024											
SCN2B	6327	broad.mit.edu	37	chr11	118037799	118037799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggagtcccgctcaggggGctctggaaaggaagcagagc	9	5	17	10	2	2	1	1	0	1	1	3	4	3	4	1	5	2	3	1	5	2	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:118037799G>T	ENST00000278947.5	-	4	692	c.451C>A	c.(451-453)Ccc>Acc	p.P151T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	151	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCTCAGGGGGCTCTGGAAAG	0.627																																						uc001psf.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(451-453)Ccc>Acc		Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.							47	50	49					11																	118037799		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037799G>T	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.451C>A	11.37:g.118037799G>T	ENSP00000278947:p.Pro151Thr						p.P151T	NM_004588	NP_004579	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	3	642	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	151			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.451C>A	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637682	0.87760	.	.	ENSG00000149575	ENST00000278947	D	0.97731	-4.51	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97894	1.0299	10	0.25751	T	0.34	-8.5151	18.1626	0.89714	0.0:0.0:1.0:0.0	.	151	O60939	SCN2B_HUMAN	T	151	ENSP00000278947:P151T	ENSP00000278947:P151T	P	-	1	0	SCN2B	117543009	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.310000	0.72830	2.640000	0.89533	0.655000	0.94253	CCC		0.627	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		T	118037799	G	T	118037799	3	4	169	1	0	0	0	0	1	0	0	0	13917	1203	42	5	200	5	SCN2B	11	118037799	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	15328441	118037799	16968717	30	12025											
PIWIL1	9271	broad.mit.edu	37	chr12	130833883	130833883	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccttcgaagtgagacTgttttggatttcatgttcaa	11	15	9	6	1	2	1	2	1	0	1	4	4	3	2	1	1	0	2	1	1	3	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr12:130833883T>A	ENST00000245255.3	+	8	1106	c.834T>A	c.(832-834)acT>acA	p.T278T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	278	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGTGAGACTGTTTTGGATT	0.383																																						uc001uik.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(832-834)acT>acA		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							115	105	108					12																	130833883		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130833883T>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.834T>A	12.37:g.130833883T>A						PIWIL1_uc001uij.2_Silent_p.T278T	p.T278T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	7	1105	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		278			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.834T>A	CCDS9268.1																																																																																				0.383	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130833883	T	A	130833883	2	1	169	1	0	0	0	0	0	0	0	1	11957	1567	55	5		5	PIWIL1	12	130833883	Silent	SNP	T	TCGA-19-5958-01A-11D-1696-08		130833883	3018012	31	12026											
IRS2	8660	broad.mit.edu	37	chr13	110436118	110436118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtagtccccgttgggCagcagcttgccatctgcatg	6	11	13	11	1	1	1	0	1	1	0	2	1	2	1	3	2	4	6	3	2	1	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr13:110436118C>T	ENST00000375856.3	-	1	2797	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	761					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCCGTTGGGCAGCAGCTTGC	0.692																																					Melanoma(100;613 2409 40847)	uc001vqv.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(2281-2283)ctG>ctA		Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.							24	14	17					13																	110436118		2091	4135	6226	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436118C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2283G>A	13.37:g.110436118C>T							p.L761L	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		0	2797	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	761					Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.2283G>A	CCDS9510.1																																																																																				0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		T	110436118	C	T	110436118	2	4	169	1	0	0	0	0	0	0	0	1	7841	697	25	3		3	IRS2	13	110436118	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08		110436118	4733760	32	12027											
NFATC4	4776	broad.mit.edu	37	chr14	24845826	24845826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgacccgtatggagggCggggctcctctttctccctg	4	11	13	13	2	2	1	0	1	2	0	4	2	3	2	3	4	0	2	3	4	2	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:24845826C>T	ENST00000250373.4	+	9	2524	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	NFATC4_ENST00000557451.1_Missense_Mutation_p.R725W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R808W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R330W|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.R783W|NFATC4_ENST00000555802.1_Missense_Mutation_p.R83W|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.R827W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R330W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R783W|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000553879.1_Missense_Mutation_p.R725W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R808W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R827W|NFATC4_ENST00000555393.1_Missense_Mutation_p.R83W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R725W|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000413692.2_Missense_Mutation_p.R858W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R795W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	795	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTATGGAGGGCGGGGCTCCTC	0.642																																						uc001wpc.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2383-2385)Cgg>Tgg		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.							47	54	52					14																	24845826		2203	4299	6502	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845826C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2383C>T	14.37:g.24845826C>T	ENSP00000250373:p.Arg795Trp					NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.R858W|NFATC4_uc010tol.2_Missense_Mutation_p.R858W|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.R808W|NFATC4_uc010ton.2_Missense_Mutation_p.R808W|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.R827W|NFATC4_uc010top.2_Missense_Mutation_p.R827W|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.R725W|NFATC4_uc010tot.2_Missense_Mutation_p.R783W|NFATC4_uc010tou.2_Missense_Mutation_p.R725W|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.R783W|NFATC4_uc010tox.2_Missense_Mutation_p.R725W|NFATC4_uc001wpd.3_Missense_Mutation_p.R330W|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.R330W|NFATC4_uc010tpa.2_Missense_Mutation_p.R83W|NFATC4_uc010tpb.2_Missense_Mutation_p.R83W	p.R795W	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	8	2704	+			795			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2383C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476472	0.44044	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	3.19;3.21;3.2;3.2;3.21;3.22;3.21;2.9;2.9;2.88;2.88;2.89;1.46;1.45;0.78;0.83	5.0	0.541	0.17168	.	0.249876	0.28296	N	0.015865	T	0.25195	0.0612	N	0.08118	0	0.23720	N	0.997026	P;D;P;P;D;D;P;D;P	0.57257	0.947;0.979;0.947;0.947;0.979;0.979;0.947;0.979;0.74	B;B;B;B;B;B;B;B;B	0.43123	0.319;0.292;0.219;0.219;0.409;0.409;0.319;0.409;0.109	T	0.22452	-1.0216	10	0.56958	D	0.05	-7.9657	8.4975	0.33136	0.387:0.4715:0.1415:0.0	.	783;827;808;808;858;858;783;827;795	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	858;808;808;827;827;795;795;725;725;725;783;783;330;330;83;83	ENSP00000388910:R858W;ENSP00000451224:R808W;ENSP00000388668:R808W;ENSP00000439350:R827W;ENSP00000452270:R827W;ENSP00000250373:R795W;ENSP00000450590:R795W;ENSP00000452349:R725W;ENSP00000450469:R725W;ENSP00000451284:R725W;ENSP00000396788:R783W;ENSP00000450686:R783W;ENSP00000451183:R330W;ENSP00000451395:R330W;ENSP00000451801:R83W;ENSP00000451590:R83W	ENSP00000250373:R795W	R	+	1	2	NFATC4	23915666	0.419000	0.25449	0.986000	0.45419	0.937000	0.57800	1.331000	0.33793	0.220000	0.20860	0.561000	0.74099	CGG		0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		T	24845826	C	T	24845826	3	4	169	1	0	0	0	0	1	0	0	0	10365	759	27	1	2610	1	NFATC4	14	24845826	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		24845826	82503714	33	12028											
C14orf105	55195	broad.mit.edu	37	chr14	57949812	57949812	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcattgtcctggcttctcGctggctcaggagtcttcctg	3	14	12	12	1	3	0	1	0	2	0	6	1	5	1	2	3	1	4	2	3	0	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:57949812G>A	ENST00000216445.3	-	3	500	c.364C>T	c.(364-366)Cga>Tga	p.R122*	C14orf105_ENST00000422976.2_Nonsense_Mutation_p.R122*|C14orf105_ENST00000526336.1_3'UTR|C14orf105_ENST00000534126.1_Nonsense_Mutation_p.R122*	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	122										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTGGCTTCTCGCTGGCTCAGG	0.522																																						uc010trl.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(364-366)Cga>Tga		Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.							179	143	155					14																	57949812		2203	4300	6503	SO:0001587	stop_gained	55195							g.chr14:57949812G>A	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.364C>T	14.37:g.57949812G>A	ENSP00000216445:p.Arg122*					C14orf105_uc001xcy.2_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Nonsense_Mutation_p.R44*	p.R122*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			2	507	-			122					Q53G04	Nonsense_Mutation	SNP	ENST00000216445.3	37	c.364C>T	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149889	0.57151	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	.	.	.	4.92	1.78	0.24846	.	0.882998	0.09683	N	0.769470	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-1.1015	7.0451	0.25040	0.0:0.1622:0.4636:0.3741	.	.	.	.	X	122	.	ENSP00000216445:R122X	R	-	1	2	C14orf105	57019565	0.844000	0.29557	0.998000	0.56505	0.425000	0.31504	1.174000	0.31932	0.639000	0.30564	-0.188000	0.12872	CGA		0.522	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		A	57949812	G	A	57949812	4	1	169	1	0	0	0	0	0	1	0	0	1737	1095	38	1	542	1	C14orf105	14	57949812	Nonsense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	33103986	57949812	49399728	34	12029											
ATP10A	57194	broad.mit.edu	37	chr15	25924506	25924506	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcactgtgaccgccttgaAgatgctcctataagtagtct	9	14	8	10	1	2	3	1	2	1	1	3	3	3	3	3	0	1	2	3	0	4	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr15:25924506A>T	ENST00000356865.6	-	21	4593	c.4482T>A	c.(4480-4482)tcT>tcA	p.S1494S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1494					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCGCCTTGAAGATGCTCCTA	0.418																																						uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4480-4482)tcT>tcA		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							56	59	58					15																	25924506		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924506A>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4482T>A	15.37:g.25924506A>T							p.S1494S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	4588	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1494					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4482T>A	CCDS32178.1																																																																																				0.418	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25924506	A	T	25924506	2	4	169	1	0	0	0	0	0	0	0	1	1116	59	3	5		5	ATP10A	15	25924506	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08		25924506	76606886	35	12030											
CACNA1H	8912	broad.mit.edu	37	chr16	1259347	1259347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggtggccctgcccagcGacttcttcctgcgcatcgac	5	9	12	15	3	1	0	0	0	1	0	3	2	2	0	3	3	3	1	3	3	0	2	rs376491138		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:1259347G>A	ENST00000348261.5	+	17	3927	c.3679G>A	c.(3679-3681)Gac>Aac	p.D1227N	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1227N|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1227N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1227					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTGCCCAGCGACTTCTTCCT	0.736																																						uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3679-3681)Gac>Aac		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)	G	ASN/ASP,ASN/ASP	0,4168		0,0,2084	21	23	23		3679,3679	2.7	1	16		23	1,8313		0,1,4156	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	23,23	0,1,6240	AA,AG,GG		0.012,0.0,0.0080	benign,benign	1227/2348,1227/2354	1259347	1,12481	2084	4157	6241	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1259347G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3679G>A	16.37:g.1259347G>A	ENSP00000334198:p.Asp1227Asn					CACNA1H_uc002ckt.3_Missense_Mutation_p.D1227N|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	p.D1227N	NM_021098	NP_066921	O95180	CAC1H_HUMAN			16	3927	+		Hepatocellular(780;0.00369)	1227					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.3679G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666648	0.29604	0.0	1.2E-4	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96427	-4.01;-3.96	3.67	2.67	0.31697	.	59.016000	0.00166	N	0.000000	D	0.93703	0.7988	L	0.48642	1.525	0.22412	N	0.999122	P;P	0.38711	0.462;0.643	B;B	0.26517	0.07;0.054	D	0.84790	0.0778	10	0.39692	T	0.17	.	11.9088	0.52727	0.0:0.1776:0.8224:0.0	.	1227;1227	O95180-2;O95180	.;CAC1H_HUMAN	N	1227	ENSP00000334198:D1227N;ENSP00000351401:D1227N	ENSP00000334198:D1227N	D	+	1	0	CACNA1H	1199348	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	4.683000	0.61679	0.696000	0.31696	0.491000	0.48974	GAC		0.736	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1259347	G	A	1259347	3	1	169	1	0	0	0	0	1	0	0	0	2545	1058	37	2	3741	2	CACNA1H	16	1259347	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		1259347	89095406	36	12031											
CORO7	79585	broad.mit.edu	37	chr16	4409376	4409376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcgtacaggaatacaCgggtgtcgccctgcggggaa	9	6	15	11	4	0	0	0	0	0	0	2	2	0	2	1	4	4	3	1	4	4	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4409376C>T	ENST00000251166.4	-	23	2406	c.2261G>A	c.(2260-2262)cGt>cAt	p.R754H	CORO7_ENST00000539968.1_Missense_Mutation_p.R534H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R754H|CORO7_ENST00000574025.1_Missense_Mutation_p.R669H|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.R736H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	754					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CAGGAATACACGGGTGTCGCC	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002cwf.3																			0											c.(2260-2262)cGt>cAt		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							56	49	52					16																	4409376		2197	4299	6496	SO:0001583	missense	79585							g.chr16:4409376C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2261G>A	16.37:g.4409376C>T	ENSP00000251166:p.Arg754His		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R534H|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R754H|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R736H|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R669H|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R534H	p.R754H	NM_001201479	NP_001188408					22	2704	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2261G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274285	0.80580	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.32023	1.47;1.47	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.057993	0.64402	D	0.000002	T	0.56920	0.2018	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.999;1.0;0.999;1.0	T	0.55309	-0.8161	10	0.56958	D	0.05	-17.4984	19.4755	0.94985	0.0:1.0:0.0:0.0	.	669;736;534;754;735	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	754;669;534	ENSP00000251166:R754H;ENSP00000446221:R534H	ENSP00000251166:R754H	R	-	2	0	CORO7	4349377	1.000000	0.71417	0.964000	0.40570	0.082000	0.17680	6.938000	0.75904	2.704000	0.92352	0.655000	0.94253	CGT		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4409376	C	T	4409376	3	4	169	1	0	0	0	0	1	0	0	0	3759	536	19	1	540	1	CORO7	16	4409376	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	3150029	4409376	85945377	37	12032											
MGRN1	23295	broad.mit.edu	37	chr16	4731589	4731589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggctacgagcccatctcGctgctcgaggcgctcaacgg	6	7	12	16	5	2	0	1	0	1	0	4	2	2	0	2	3	4	4	2	3	2	1	rs372689801		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4731589G>A	ENST00000399577.5	+	13	1263	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MGRN1_ENST00000588994.1_Silent_p.S368S|MGRN1_ENST00000415496.1_Silent_p.S369S|MGRN1_ENST00000262370.7_Silent_p.S390S|MGRN1_ENST00000586183.1_Silent_p.S368S	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	390					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCCCATCTCGCTGCTCGAGG	0.647																																						uc002cxa.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1168-1170)tcG>tcA		Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.		G	,,,	1,4183		0,1,2091	37	43	41		1104,1170,1104,1170	1.3	1	16		41	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,1,6302	AA,AG,GG		0.0,0.0239,0.0079	,,,	368/555,390/553,368/531,390/577	4731589	1,12605	2092	4211	6303	SO:0001819	synonymous_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4731589G>A	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1170G>A	16.37:g.4731589G>A						MGRN1_uc002cwz.3_Silent_p.S390S|MGRN1_uc010uxo.2_Silent_p.S368S|MGRN1_uc010uxp.2_Silent_p.S368S|MGRN1_uc010btw.3_Silent_p.S369S|MGRN1_uc010uxq.2_Non-coding_Transcript	p.S390S	NM_015246	NP_056061	O60291	MGRN1_HUMAN			12	1307	+			390					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.1170G>A	CCDS45402.1																																																																																				0.647	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			A	4731589	G	A	4731589	2	1	169	1	0	0	0	0	0	0	0	1	9559	1074	38	1		1	MGRN1	16	4731589	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	322213	4731589	85623164	38	12033											
NKD1	85407	broad.mit.edu	37	chr16	50664787	50664787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccactgaggacctgCggagctgggagaagaagcag	12	3	15	11	1	0	3	0	1	0	2	0	6	0	5	3	3	4	2	3	3	3	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:50664787C>T	ENST00000268459.3	+	8	885	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	221					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGACCTGCGGAGCTGGGA	0.612																																						uc002egg.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(661-663)Cgg>Tgg		Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.							42	36	38					16																	50664787		2182	4294	6476	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664787C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.661C>T	16.37:g.50664787C>T	ENSP00000268459:p.Arg221Trp						p.R221W	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	885	+		all_cancers(37;0.229)	221					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.661C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268892	0.80469	.	.	ENSG00000140807	ENST00000268459	T	0.73047	-0.71	4.69	3.66	0.41972	.	0.053955	0.64402	D	0.000001	T	0.81143	0.4761	M	0.79258	2.445	0.46396	D	0.999025	D	0.89917	1.0	D	0.70227	0.968	T	0.82682	-0.0336	10	0.87932	D	0	-10.1444	9.2432	0.37509	0.3937:0.6063:0.0:0.0	.	221	Q969G9	NKD1_HUMAN	W	221	ENSP00000268459:R221W	ENSP00000268459:R221W	R	+	1	2	NKD1	49222288	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	3.916000	0.56416	2.146000	0.66826	0.467000	0.42956	CGG		0.612	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			T	50664787	C	T	50664787	3	4	169	1	0	0	0	0	1	0	0	0	10441	759	27	1	691	1	NKD1	16	50664787	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	45933198	50664787	39689966	39	12034											
CNGB1	1258	broad.mit.edu	37	chr16	57949167	57949167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctacctttaaacagcgggGcaggcggaggagggggttca	9	7	16	9	2	1	0	1	0	0	0	2	2	2	2	2	7	3	2	2	7	3	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:57949167G>A	ENST00000251102.8	-	23	2350	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	CNGB1_ENST00000564448.1_Missense_Mutation_p.P758S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	764					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAACAGCGGGGCAGGCGGAGG	0.602																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2290-2292)Ccc>Tcc		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							39	43	42					16																	57949167		1937	4127	6064	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57949167G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2290C>T	16.37:g.57949167G>A	ENSP00000251102:p.Pro764Ser					CNGB1_uc010cdh.2_Missense_Mutation_p.P758S	p.P764S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			22	2355	-			764					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2290C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165205	0.78339	.	.	ENSG00000070729	ENST00000251102	T	0.52295	0.67	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	M	0.87456	2.885	0.80722	D	1	B;D	0.60160	0.065;0.987	B;P	0.60609	0.03;0.877	T	0.75260	-0.3380	10	0.51188	T	0.08	.	18.0549	0.89361	0.0:0.0:1.0:0.0	.	136;764	Q14028-2;Q14028	.;CNGB1_HUMAN	S	764	ENSP00000251102:P764S	ENSP00000251102:P764S	P	-	1	0	CNGB1	56506668	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.371000	0.97162	2.497000	0.84241	0.655000	0.94253	CCC		0.602	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57949167	G	A	57949167	3	1	169	1	0	0	0	0	1	0	0	0	3600	1203	42	3	1509	3	CNGB1	16	57949167	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	7284380	57949167	32405586	40	12035											
MYH4	4622	broad.mit.edu	37	chr17	10355578	10355578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggagaggtcagagcGctgcttctctgctttggccc	4	10	13	14	2	2	2	1	0	1	2	4	3	3	2	2	3	3	3	2	3	0	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:10355578G>A	ENST00000255381.2	-	27	3528	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1140					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3418-3420)Cgc>Tgc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							60	66	64					17																	10355578		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355578G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3418C>T	17.37:g.10355578G>A	ENSP00000255381:p.Arg1140Cys					AK097500_uc002gml.1_Intron	p.R1140C	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			26	3529	-			1140						Missense_Mutation	SNP	ENST00000255381.2	37	c.3418C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861742	0.71949	.	.	ENSG00000141048	ENST00000255381	D	0.82893	-1.66	5.4	4.36	0.52297	Myosin tail (1);	0.000000	0.35291	U	0.003304	D	0.93446	0.7909	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94902	0.8057	10	0.87932	D	0	.	15.2147	0.73254	0.0:0.0:0.8587:0.1413	.	1140	Q9Y623	MYH4_HUMAN	C	1140	ENSP00000255381:R1140C	ENSP00000255381:R1140C	R	-	1	0	MYH4	10296303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.794000	0.55492	2.685000	0.91497	0.655000	0.94253	CGC		0.582	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10355578	G	A	10355578	3	1	169	1	0	0	0	0	1	0	0	0	10037	1087	38	1	2457	1	MYH4	17	10355578	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		10355578	70839632	41	12036											
DNAH9	1770	broad.mit.edu	37	chr17	11572540	11572540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggataccatctctggtgcCacggctttccccacaaaatg	10	10	8	13	1	1	0	0	0	1	0	3	1	2	1	4	3	2	1	4	3	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:11572540C>T	ENST00000262442.4	+	16	2959	c.2891C>T	c.(2890-2892)cCa>cTa	p.P964L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P964L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	964	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTGGTGCCACGGCTTTCC	0.527																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2890-2892)cCa>cTa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							112	105	107					17																	11572540		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572540C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2891C>T	17.37:g.11572540C>T	ENSP00000262442:p.Pro964Leu					DNAH9_uc010coo.3_Missense_Mutation_p.P258L	p.P964L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	15	2959	+		Breast(5;0.0122)|all_epithelial(5;0.131)	964			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2891C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070530	0.93950	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26223	1.8;1.75	5.6	5.6	0.85130	.	0.065102	0.64402	D	0.000007	T	0.40886	0.1135	M	0.85197	2.74	0.80722	D	1	P	0.40376	0.715	B	0.42062	0.374	T	0.34601	-0.9822	10	0.23891	T	0.37	.	19.599	0.95552	0.0:1.0:0.0:0.0	.	964	Q9NYC9	DYH9_HUMAN	L	964	ENSP00000262442:P964L;ENSP00000414874:P964L	ENSP00000262442:P964L	P	+	2	0	DNAH9	11513265	1.000000	0.71417	0.981000	0.43875	0.921000	0.55340	5.771000	0.68881	2.632000	0.89209	0.655000	0.94253	CCA		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11572540	C	T	11572540	3	4	169	1	0	0	0	0	1	0	0	0	4608	594	21	3	2953	3	DNAH9	17	11572540	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	1216962	11572540	69622670	42	12037											
ERAL1	26284	broad.mit.edu	37	chr17	27182172	27182172	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcactcttaggcttccaAcggaggtgcgtgtcctgcgt	5	12	11	13	3	2	0	1	0	1	0	5	1	5	1	3	3	3	1	3	3	2	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:27182172A>G	ENST00000254928.5	+	1	217	c.120A>G	c.(118-120)caA>caG	p.Q40Q	ERAL1_ENST00000578001.1_3'UTR|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	40					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TAGGCTTCCAACGGAGGTGCG	0.627																																						uc002hcy.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(118-120)caA>caG		Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.							87	78	81					17																	27182172		2203	4300	6503	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27182172A>G	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.120A>G	17.37:g.27182172A>G						ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	p.Q40Q	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		0	130	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		40					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.120A>G	CCDS11244.1																																																																																				0.627	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			G	27182172	A	G	27182172	2	3	169	1	0	0	0	0	0	0	0	1	5202	40	2	4		4	ERAL1	17	27182172	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08	15609632	27182172	54013038	43	12038											
ICAM4	3386	broad.mit.edu	37	chr19	10398453	10398453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgtgatctgccacgcGcgcctcaatctcgacggcct	6	7	10	18	6	3	1	1	1	2	0	4	2	3	1	4	1	2	0	4	1	1	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:10398453G>A	ENST00000380770.3	+	2	682	c.636G>A	c.(634-636)gcG>gcA	p.A212A	ICAM4_ENST00000340992.4_Missense_Mutation_p.A187T|ICAM4_ENST00000393717.2_Silent_p.A212A|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	212	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCTGCCACGCGCGCCTCAATC	0.642																																						uc002mnr.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(559-561)Gcg>Acg		Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.							68	66	66					19																	10398453		2203	4300	6503	SO:0001819	synonymous_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398453G>A	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.636G>A	19.37:g.10398453G>A						ICAM4_uc002mns.2_Silent_p.A212A|ICAM4_uc002mnt.2_Silent_p.A212A|ICAM5_uc002mnu.4_5'Flank	p.A187T	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	605	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Silent	SNP	ENST00000380770.3	37	c.559G>A	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821604	0.71028	.	.	ENSG00000105371	ENST00000340992	T	0.26518	1.73	4.82	-7.64	0.01286	.	2.542110	0.02178	N	0.060282	T	0.13628	0.0330	.	.	.	0.49299	D	0.999775	B	0.29612	0.251	B	0.18561	0.022	T	0.29518	-1.0009	9	0.72032	D	0.01	0.1856	2.2675	0.04082	0.4725:0.2521:0.1558:0.1196	.	187	Q9BWR0	.	T	187	ENSP00000342114:A187T	ENSP00000342114:A187T	A	+	1	0	ICAM4	10259453	0.001000	0.12720	0.812000	0.32479	0.009000	0.06853	-2.025000	0.01435	-0.835000	0.04234	-0.314000	0.08810	GCG		0.642	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		A	10398453	G	A	10398453	2	1	169	1	0	0	0	0	0	0	0	1	7482	1087	38	1		1	ICAM4	19	10398453	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		10398453	48730530	44	12039											
OR10H1	26539	broad.mit.edu	37	chr19	15918076	15918076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcttcaggtaaatgaCggaggcaaagccatagtgca	12	9	13	7	1	1	1	1	1	0	0	1	2	1	2	1	4	2	4	1	4	4	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:15918076C>T	ENST00000334920.2	-	1	860	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGTAAATGACGGAGGCAAAG	0.552																																						uc002nbq.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(772-774)Gtc>Atc		Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.							115	88	97					19																	15918076		2203	4300	6503	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918076C>T	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.772G>A	19.37:g.15918076C>T	ENSP00000335596:p.Val258Ile						p.V258I	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			0	861	-			258					Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.772G>A	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.508390	0.00984	.	.	ENSG00000186723	ENST00000334920	T	0.00107	8.72	4.96	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.150994	0.30695	N	0.009067	T	0.00039	0.0001	N	0.02181	-0.65	0.29135	N	0.879414	B	0.18013	0.025	B	0.18263	0.021	T	0.02417	-1.1162	10	0.09084	T	0.74	.	5.5472	0.17071	0.1983:0.7014:0.0:0.1004	.	258	Q9Y4A9	O10H1_HUMAN	I	258	ENSP00000335596:V258I	ENSP00000335596:V258I	V	-	1	0	OR10H1	15779076	0.000000	0.05858	0.996000	0.52242	0.300000	0.27592	-0.417000	0.07088	2.286000	0.76751	0.643000	0.83706	GTC		0.552	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			T	15918076	C	T	15918076	3	4	169	1	0	0	0	0	1	0	0	0	10905	536	19	1	188	1	OR10H1	19	15918076	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	5519623	15918076	43210907	45	12040											
PSG9	5678	broad.mit.edu	37	chr19	43766196	43766196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccataggtagcttgcGtccagagtctcaggatcaca	11	9	9	12	1	2	1	2	0	1	1	5	2	4	2	3	2	2	2	3	2	2	3	rs150952802		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:43766196G>A	ENST00000270077.3	-	3	621	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000244293.7_Silent_p.D175D|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532																																						uc002owd.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(523-525)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							246	238	241					19																	43766196		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766196G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.525C>T	19.37:g.43766196G>A						PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN			2	624	-		Prostate(69;0.00682)	175			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.525C>T	CCDS12618.1																																																																																				0.532	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		A	43766196	G	A	43766196	2	1	169	1	0	0	0	0	0	0	0	1	12662	1136	40	1		1	PSG9	19	43766196	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	27848120	43766196	15362787	46	12041											
PLEKHA4	57664	broad.mit.edu	37	chr19	49360714	49360714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgggtcccagggggccGcggggggagctggagataag	6	3	22	10	3	0	1	0	0	0	1	1	3	1	2	3	8	1	1	3	8	1	1	rs201722692		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:49360714G>A	ENST00000263265.6	-	9	1567	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PLEKHA4_ENST00000596713.1_5'Flank|PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	338	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGGGGCCGCGGGGGGAGC	0.542																																						uc002pkx.3																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1012-1014)Cgg>Tgg		Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.							12	17	15					19																	49360714		2159	4272	6431	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49360714G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1012C>T	19.37:g.49360714G>A	ENSP00000263265:p.Arg338Trp					PLEKHA4_uc010eml.3_Intron	p.R338W	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	8	1563	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	338			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1012C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680383	0.47886	.	.	ENSG00000105559	ENST00000263265	T	0.09350	2.99	4.57	1.11	0.20524	.	0.261930	0.26708	N	0.022911	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	0.999997	D	0.89917	1.0	D	0.79784	0.993	T	0.05289	-1.0894	10	0.66056	D	0.02	.	10.6248	0.45502	0.0:0.0:0.5147:0.4853	.	338	Q9H4M7	PKHA4_HUMAN	W	338	ENSP00000263265:R338W	ENSP00000263265:R338W	R	-	1	2	PLEKHA4	54052526	0.002000	0.14202	0.044000	0.18714	0.617000	0.37484	0.318000	0.19504	0.073000	0.16731	0.462000	0.41574	CGG		0.542	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			A	49360714	G	A	49360714	3	1	169	1	0	0	0	0	1	0	0	0	12058	1086	38	1	1375	1	PLEKHA4	19	49360714	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	5594518	49360714	9768269	47	12042											
GFRA4	64096	broad.mit.edu	37	chr20	3640606	3640606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatggagagcagggagcGtctctccagggccctgcctg	8	7	15	11	1	1	1	0	0	1	1	3	3	2	2	3	3	3	2	3	3	2	1	rs373372326	byFrequency	TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr20:3640606G>A	ENST00000319242.3	-	5	849	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	GFRA4_ENST00000290417.2_Missense_Mutation_p.R254C			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	284					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						AGCAGGGAGCGTCTCTCCAGG	0.642													G|||	3	0.000599042	0	0	5008	,	,		19272	0		0	False		,,,				2504	0.0031					uc002wio.3																			0				large_intestine(1)|lung(2)	3						c.(850-852)Cgc>Tgc		Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.							25	25	25					20																	3640606		2200	4291	6491	SO:0001583	missense	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3640606G>A	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.850C>T	20.37:g.3640606G>A	ENSP00000313423:p.Arg284Cys					GFRA4_uc002win.3_Missense_Mutation_p.R254C	p.R284C	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			4	850	-			284					Q5JT74|Q9H191|Q9H192	Missense_Mutation	SNP	ENST00000319242.3	37	c.850C>T	CCDS13056.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.234832	0.22626	.	.	ENSG00000125861	ENST00000290417;ENST00000319242	.	.	.	4.59	-2.38	0.06622	.	3.230950	0.01092	N	0.005216	T	0.19967	0.0480	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27773	-1.0064	9	0.72032	D	0.01	-1.4926	5.3719	0.16144	0.3984:0.0:0.2838:0.3179	.	284;254	Q9GZZ7;Q9GZZ7-2	GFRA4_HUMAN;.	C	254;284	.	ENSP00000290417:R254C	R	-	1	0	GFRA4	3588606	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.369000	0.01076	-0.591000	0.05859	-2.276000	0.00273	CGC		0.642	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		A	3640606	G	A	3640606	3	1	169	1	0	0	0	0	1	0	0	0	6350	1145	40	1	53	1	GFRA4	20	3640606	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		3640606	59384914	48	12043											
MX2	4600	broad.mit.edu	37	chr21	42770891	42770891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaccgaggagctgcggcGttgcggggctgacatcccca	6	5	17	13	5	0	1	0	1	0	0	1	4	1	2	3	5	3	3	3	5	0	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr21:42770891G>A	ENST00000330714.3	+	9	1401	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	406					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAGCTGCGGCGTTGCGGGGCT	0.527																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1216-1218)cGt>cAt		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							81	86	85					21																	42770891		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42770891G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1217G>A	21.37:g.42770891G>A	ENSP00000333657:p.Arg406His					MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	p.R406H	NM_002463	NP_002454	P20592	MX2_HUMAN			8	1321	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	406					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1217G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417500	0.25552	.	.	ENSG00000183486	ENST00000330714	T	0.74002	-0.8	4.09	1.3	0.21679	Dynamin central domain (1);	0.665977	0.14674	N	0.305179	T	0.63896	0.2550	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.55860	-0.8074	10	0.62326	D	0.03	-0.5719	8.2852	0.31924	0.8629:0.0:0.1371:0.0	.	406	P20592	MX2_HUMAN	H	406	ENSP00000333657:R406H	ENSP00000333657:R406H	R	+	2	0	MX2	41692761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.357000	0.20199	0.090000	0.17273	-0.216000	0.12614	CGT		0.527	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		A	42770891	G	A	42770891	3	1	169	1	0	0	0	0	1	0	0	0	9998	1145	40	1	1247	1	MX2	21	42770891	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		42770891	5359004	49	12044											
ITIH5L	347365	broad.mit.edu	37	chrX	54785074	54785074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacccaggtagttcagaCgcacatctgccagcagaggc	11	5	11	14	1	2	2	1	0	1	2	2	2	2	2	3	2	3	4	3	2	1	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:54785074C>T	ENST00000218436.6	-	8	1462	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	478					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GTAGTTCAGACGCACATCTGC	0.597																																						uc004dtj.2																			0											c.(1432-1434)cGt>cAt		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							45	40	42					X																	54785074		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785074C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1433G>A	X.37:g.54785074C>T	ENSP00000218436:p.Arg478His						p.R478H	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	1463	-			478					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1433G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	2.280	-0.364922	0.05103	.	.	ENSG00000102313	ENST00000218436	T	0.11604	2.76	3.66	-6.82	0.01698	.	0.849036	0.10374	N	0.682431	T	0.06416	0.0165	N	0.24115	0.695	0.19575	N	0.999964	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	10	0.18710	T	0.47	.	14.0856	0.64954	0.0:0.2673:0.0:0.7327	.	478	Q6UXX5	ITH5L_HUMAN	H	478	ENSP00000218436:R478H	ENSP00000218436:R478H	R	-	2	0	ITIH5L	54801799	0.000000	0.05858	0.283000	0.24790	0.354000	0.29330	-1.031000	0.03578	-2.087000	0.00862	-2.471000	0.00202	CGT		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54785074	C	T	54785074	3	4	169	1	0	0	0	0	1	0	0	0	7908	536	19	1	2532	1	ITIH5L	23	54785074	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		54785074	100485486	50	12045											
TBC1D8B	54885	broad.mit.edu	37	chrX	106109162	106109162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgttgagtccctgggCtcattctgcaaataaagact	10	13	8	10	0	3	2	2	1	1	1	4	2	4	2	1	1	1	3	1	1	3	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:106109162C>T	ENST00000357242.5	+	16	2735	c.2561C>T	c.(2560-2562)gCt>gTt	p.A854V	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A848V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	854							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTCCCTGGGCTCATTCTGCA	0.408																																						uc004emo.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2560-2562)gCt>gTt		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.							153	134	140					X																	106109162		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109162C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2561C>T	X.37:g.106109162C>T	ENSP00000349781:p.Ala854Val					MORC4_uc004emp.4_Intron	p.A854V	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			15	2726	+			854					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2561C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914724	0.72983	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.29655	1.56;1.56	5.71	5.71	0.89125	EF-hand-like domain (1);	0.312978	0.32593	N	0.005891	T	0.34193	0.0889	M	0.69358	2.11	0.45648	D	0.998576	P	0.36222	0.544	B	0.30495	0.116	T	0.22591	-1.0212	10	0.59425	D	0.04	-1.6099	17.2863	0.87142	0.0:1.0:0.0:0.0	.	854	Q0IIM8	TBC8B_HUMAN	V	854;848;116	ENSP00000349781:A854V;ENSP00000276175:A848V	ENSP00000276175:A848V	A	+	2	0	TBC1D8B	105995818	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.487000	0.81328	2.400000	0.81607	0.594000	0.82650	GCT		0.408	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		T	106109162	C	T	106109162	3	4	169	1	0	0	0	0	1	0	0	0	15623	797	28	3	2689	3	TBC1D8B	23	106109162	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	51324088	106109162	49161398	51	12046											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925190	4925190	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtgccactgattcgaaTtgaagaggatactggtgaga	13	10	13	5	1	0	5	0	3	0	3	1	8	0	6	1	2	2	0	1	2	3	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrY:4925190T>A	ENST00000333703.4	+	4	806	c.293T>A	c.(292-294)aTt>aAt	p.I98N	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.I109N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.I109N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCGAATTGAAGAGGAT	0.443																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(325-327)aTt>aAt		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925190T>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.293T>A	Y.37:g.4925190T>A	ENSP00000330552:p.Ile98Asn					PCDH11Y_uc010nwg.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fql.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.I109N	p.I109N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			0	1060	+			109			Cadherin 1.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.326T>A	CCDS14776.1																																																																																				0.443	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		A	4925190	T	A	4925190	3	1	169	1	0	0	0	0	1	0	0	0	11509	1493	52	5	364	5	PCDH11Y	24	4925190	Missense_Mutation	SNP	T	TCGA-19-5958-01A-11D-1696-08		4925190	54448376	52	12047											
SKI	6497	broad.mit.edu	37	chr1	2234792	2234792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcccccgcagtgtcagcGagtgagaaagagctctcccc	8	7	12	14	2	2	2	1	1	1	2	4	4	3	2	4	1	2	2	4	1	1	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:2234792G>A	ENST00000378536.4	+	3	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	388					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622																																					Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(1162-1164)gcG>gcA		Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.							125	126	126					1																	2234792		2203	4300	6503	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2234792G>A	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1164G>A	1.37:g.2234792G>A							p.A388A	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	2	1236	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		388					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.1164G>A	CCDS39.1																																																																																				0.622	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		A	2234792	G	A	2234792	2	1	170	1	0	0	0	0	0	0	0	1	14357	1045	37	2		2	SKI	1	2234792	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		2234792	247015829	1	12048											
HIVEP3	59269	broad.mit.edu	37	chr1	42048030	42048030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccaagccactcggctgCtcgagagaatcagatttctc	9	10	8	14	2	2	2	1	0	1	2	6	4	3	2	3	1	2	2	3	1	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:42048030C>T	ENST00000372583.1	-	4	3324	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Silent_p.E813E|HIVEP3_ENST00000247584.5_Silent_p.E813E|HIVEP3_ENST00000429157.2_Silent_p.E813E	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	813	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACTCGGCTGCTCGAGAGAAT	0.557																																						uc001cgz.4																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2437-2439)gaG>gaA		Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.							50	54	53					1																	42048030		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048030C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2439G>A	1.37:g.42048030C>T						HIVEP3_uc001cha.4_Silent_p.E813E|HIVEP3_uc001cgy.3_Non-coding_Transcript	p.E813E	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			3	3652	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	813			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.2439G>A	CCDS463.1																																																																																				0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42048030	C	T	42048030	2	4	170	1	0	0	0	0	0	0	0	1	7188	796	28	3		3	HIVEP3	1	42048030	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	39813238	42048030	207202591	2	12049											
ZYG11B	79699	broad.mit.edu	37	chr1	53250588	53250588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaccaccctatgaatttgCcagtgcaactggctgcaagc	12	8	9	12	0	0	1	0	1	0	0	0	2	0	1	3	1	6	3	3	1	5	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:53250588C>T	ENST00000294353.6	+	5	1277	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	ZYG11B_ENST00000545132.1_Missense_Mutation_p.P378S|ZYG11B_ENST00000443756.2_Missense_Mutation_p.P378S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	378										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATGAATTTGCCAGTGCAACT	0.458																																						uc001cuj.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1132-1134)Cca>Tca		Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.							103	104	104					1																	53250588		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53250588C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1132C>T	1.37:g.53250588C>T	ENSP00000294353:p.Pro378Ser					ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.P369S	p.P378S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			4	1327	+			378					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1132C>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200244	0.38905	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.06933	3.24;3.24;3.24	5.13	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.106800	0.64402	D	0.000005	T	0.06188	0.0160	L	0.39020	1.185	0.49483	D	0.999792	P;P	0.43826	0.774;0.818	B;B	0.36567	0.207;0.228	T	0.27806	-1.0063	10	0.07644	T	0.81	.	13.2468	0.60028	0.0:0.9236:0.0:0.0764	.	378;378	B4DK95;Q9C0D3	.;ZY11B_HUMAN	S	378	ENSP00000400522:P378S;ENSP00000441315:P378S;ENSP00000294353:P378S	ENSP00000294353:P378S	P	+	1	0	ZYG11B	53023176	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.948000	0.56660	1.154000	0.42482	0.591000	0.81541	CCA		0.458	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		T	53250588	C	T	53250588	3	4	170	1	0	0	0	0	1	0	0	0	18250	739	26	3	1150	3	ZYG11B	1	53250588	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	11202558	53250588	196000033	3	12050											
PCSK9	255738	broad.mit.edu	37	chr1	55527067	55527067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagctcccactgggaGgtggaggaccttggcaccca	7	6	15	13	0	0	0	0	0	0	0	1	3	1	3	3	6	2	4	3	6	0	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:55527067G>A	ENST00000302118.5	+	11	1991	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	567	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCCACTGGGAGGTGGAGGACC	0.642																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.2																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1699-1701)gaG>gaA		Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.							21	22	22					1																	55527067		2201	4300	6501	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55527067G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1701G>A	1.37:g.55527067G>A						PCSK9_uc010oom.2_Non-coding_Transcript	p.E567E	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			10	2063	+			567					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1701G>A	CCDS603.1																																																																																				0.642	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		A	55527067	G	A	55527067	2	1	170	1	0	0	0	0	0	0	0	1	11606	991	35	3		3	PCSK9	1	55527067	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	2276479	55527067	193723554	4	12051											
TACSTD2	4070	broad.mit.edu	37	chr1	59041860	59041860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccgccgggtacctaCaagctcggttcctttctcaa	6	10	8	17	3	1	0	1	0	1	0	4	0	2	0	6	2	4	3	6	2	4	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:59041860C>T	ENST00000371225.2	-	1	1306	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	323					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CGGGTACCTACAAGCTCGGTT	0.592																																						uc001cyz.4																			0											c.(967-969)ttG>ttA		Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.							56	55	55					1																	59041860		2203	4300	6503	SO:0001819	synonymous_variant	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59041860C>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.969G>A	1.37:g.59041860C>T							p.L323L	NM_002353	NP_002344	P09758	TACD2_HUMAN			0	1307	-	all_cancers(7;6.54e-05)		323					Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	ENST00000371225.2	37	c.969G>A	CCDS609.1																																																																																				0.592	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		T	59041860	C	T	59041860	2	4	170	1	0	0	0	0	0	0	0	1	15505	477	17	3		3	TACSTD2	1	59041860	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	3514793	59041860	190208761	5	12052											
DDX20	11218	broad.mit.edu	37	chr1	112305594	112305594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatatgatgatgagaattgCccagaaatgtaatatcaacc	18	10	7	6	0	1	4	1	3	0	2	1	5	1	4	2	0	2	1	2	0	7	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:112305594C>T	ENST00000369702.4	+	10	1897	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	DDX20_ENST00000475700.1_Missense_Mutation_p.A34V|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	426	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGAATTGCCCAGAAATGT	0.353																																						uc001ebs.3																			0		p.I425N(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21						c.(1276-1278)gCc>gTc		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.							114	115	115					1																	112305594		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112305594C>T	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1277C>T	1.37:g.112305594C>T	ENSP00000358716:p.Ala426Val					DDX20_uc010owf.2_Missense_Mutation_p.A188V|DDX20_uc001ebt.3_Missense_Mutation_p.A34V	p.A426V	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1634	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	426			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1277C>T	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427626	0.96131	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.44881	1.22;0.91	5.33	5.33	0.75918	Helicase, C-terminal (1);	0.049378	0.85682	D	0.000000	T	0.47525	0.1450	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.728	T	0.49615	-0.8921	10	0.59425	D	0.04	-39.8081	18.9932	0.92801	0.0:1.0:0.0:0.0	.	34;426	E9PJ60;Q9UHI6	.;DDX20_HUMAN	V	426;34	ENSP00000358716:A426V;ENSP00000435660:A34V	ENSP00000358716:A426V	A	+	2	0	DDX20	112107117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.100000	0.76989	2.649000	0.89929	0.650000	0.86243	GCC		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		T	112305594	C	T	112305594	3	4	170	1	0	0	0	0	1	0	0	0	4348	739	26	3	1315	3	DDX20	1	112305594	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	53263734	112305594	136945027	6	12053											
CRNN	49860	broad.mit.edu	37	chr1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgggcctgtcctcccGgtactgtctctcctgcctca	3	12	9	17	1	3	0	1	0	2	0	7	0	6	0	5	2	2	1	5	2	1	1	rs200128647		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:152382359G>A	ENST00000271835.3	-	3	1261	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	400					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.P400L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		23894	0		0	False		,,,				2504	0					uc001ezx.2																			1	Substitution - Missense(1)	p.P400L(2)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1198-1200)cCg>cTg		Homo sapiens cornulin (CRNN), mRNA.							96	80	85					1																	152382359		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382359G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1199C>T	1.37:g.152382359G>A	ENSP00000271835:p.Pro400Leu						p.P400L	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1273	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		400					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1199C>T	CCDS1010.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.586	-0.084551	0.07097	.	.	ENSG00000143536	ENST00000271835	T	0.03745	3.82	5.01	-10.0	0.00425	.	1.727610	0.03049	N	0.154336	T	0.00300	0.0009	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.02654	T	1	.	9.1807	0.37141	0.1601:0.0:0.5346:0.3053	.	400	Q9UBG3	CRNN_HUMAN	L	400	ENSP00000271835:P400L	ENSP00000271835:P400L	P	-	2	0	CRNN	150648983	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.802000	0.04545	-3.270000	0.00200	-1.627000	0.00785	CCG		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		A	152382359	G	A	152382359	3	1	170	1	0	0	0	0	1	0	0	0	3892	1116	39	2	292	2	CRNN	1	152382359	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	40076765	152382359	96868262	7	12054											
CD1D	912	broad.mit.edu	37	chr1	158153825	158153825	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggtttaagaggcaaaCgtaagtctcccctttccctt	8	12	7	14	2	1	1	0	0	1	1	4	1	3	1	4	2	1	3	4	2	3	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:158153825C>T	ENST00000368171.3	+	6	1485	c.986C>T	c.(985-987)aCt>aTt	p.T329I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGGCAAACGTAAGTCTCC	0.512																																						uc001frr.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.e6+1		Homo sapiens CD1d molecule (CD1D), mRNA.							340	309	319					1																	158153825		2203	4300	6503	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153825C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1C>T	1.37:g.158153825C>T						CD1D_uc009wss.3_Splice_Site_p.T236_splice	p.T329_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN			6	1485	+	all_hematologic(112;0.0378)		329					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.986_splice	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924012	0.18056	.	.	ENSG00000158473	ENST00000368171	T	0.01474	4.85	3.87	0.935	0.19483	.	1.281110	0.05449	N	0.549115	T	0.00637	0.0021	N	0.22421	0.69	0.09310	N	1	B	0.29432	0.244	B	0.21360	0.034	T	0.47560	-0.9108	10	0.48119	T	0.1	0.0105	12.2124	0.54388	0.0:0.3669:0.6331:0.0	.	329	P15813	CD1D_HUMAN	I	329	ENSP00000357153:T329I	ENSP00000357153:T329I	T	+	2	0	CD1D	156420449	0.513000	0.26194	0.081000	0.20488	0.001000	0.01503	0.395000	0.20850	0.226000	0.20979	-0.837000	0.03062	ACT		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	Missense_Mutation	T	158153825	C	T	158153825	5	4	170	1	0	0	0	0	0	0	1	0	2977	550	19	1	1004	1	CD1D	1	158153825	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	5771466	158153825	91096796	8	12055											
SERPINC1	462	broad.mit.edu	37	chr1	173883833	173883833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatagaaagtggtagcaaagCgggaattggccttggacagt	13	8	15	5	1	0	1	0	0	0	1	0	4	0	3	1	4	2	2	1	4	5	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:173883833C>T	ENST00000367698.3	-	2	384	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	89			R -> C (in AT3D; type-I; dbSNP:rs147266200). {ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGTAGCAAAGCGGGAATTGGC	0.532											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gjt.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(265-267)cGc>cAc		Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						136	130	132					1																	173883833		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883833C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.266G>A	1.37:g.173883833C>T	ENSP00000356671:p.Arg89His		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911		p.R89H	NM_000488	NP_000479	P01008	ANT3_HUMAN			1	385	-			89		R -> C (in AT3D; type-I).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.266G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487762	0.44249	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82984	-1.67	5.67	-2.02	0.07388	Serpin domain (2);	0.319277	0.35677	N	0.003055	T	0.60663	0.2286	L	0.35288	1.05	0.50171	D	0.999857	B	0.21520	0.057	B	0.32724	0.151	T	0.49021	-0.8982	10	0.35671	T	0.21	.	11.199	0.48730	0.0:0.4628:0.0:0.5372	.	89	P01008	ANT3_HUMAN	H	89	ENSP00000356671:R89H	ENSP00000307953:R89H	R	-	2	0	SERPINC1	172150456	0.913000	0.31002	0.949000	0.38748	0.991000	0.79684	0.099000	0.15210	-0.394000	0.07727	0.561000	0.74099	CGC		0.532	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		T	173883833	C	T	173883833	3	4	170	1	0	0	0	0	1	0	0	0	14109	768	27	1	1152	1	SERPINC1	1	173883833	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	15730008	173883833	75366788	9	12056											
PRG4	10216	broad.mit.edu	37	chr1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggattctcagtactggcGttttaccaatgatataaaag	13	13	8	7	1	2	1	2	1	1	0	3	2	2	2	1	2	2	2	1	2	6	6	rs201785504		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:186280588G>A	ENST00000445192.2	+	10	3698	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H|PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H|PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1218					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGTACTGGCGTTTTACCAAT	0.353													G|||	1	0.000199681	0	0	5008	,	,		14970	0.001		0	False		,,,				2504	0					uc001gru.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3652-3654)cGt>cAt		Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.							80	93	89					1																	186280588		2202	4300	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280588G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3653G>A	1.37:g.186280588G>A	ENSP00000399679:p.Arg1218His					MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.R1177H|PRG4_uc009wyl.3_Missense_Mutation_p.R1125H|PRG4_uc009wym.3_Missense_Mutation_p.R1084H|PRG4_uc010poo.2_Non-coding_Transcript	p.R1218H	NM_005807	NP_005798	Q92954	PRG4_HUMAN			9	3704	+			1218			Hemopexin-like 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3653G>A	CCDS1369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.78	2.933386	0.52866	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.000000	0.41823	D	0.000806	T	0.36331	0.0963	H	0.97131	3.945	0.47123	D	0.999329	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.58896	-0.7555	10	0.87932	D	0	-7.0976	18.551	0.91065	0.0:0.0:1.0:0.0	.	1084;1125;1218;1177	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1175;747;1177;1125;1218	ENSP00000356456:R1175H;ENSP00000356454:R747H;ENSP00000356453:R1177H;ENSP00000356455:R1125H;ENSP00000399679:R1218H	ENSP00000356453:R1177H	R	+	2	0	PRG4	184547211	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.083000	0.94067	2.453000	0.82957	0.585000	0.79938	CGT		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		A	186280588	G	A	186280588	3	1	170	1	0	0	0	0	1	0	0	0	12481	1145	40	1	3687	1	PRG4	1	186280588	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	12396755	186280588	62970033	10	12057											
LHX9	56956	broad.mit.edu	37	chr1	197889248	197889248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagctggccctcgagtcCgagctcacctgctttgccaa	7	10	10	14	2	1	0	1	0	0	0	3	2	2	0	4	1	4	4	4	1	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:197889248C>T	ENST00000367387.4	+	2	746	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000367391.1_Silent_p.S98S|LHX9_ENST00000367390.3_Silent_p.S98S|LHX9_ENST00000337020.2_Silent_p.S107S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	107	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S107S(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557																																						uc001guk.1																			2	Substitution - coding silent(2)	p.S107S(2)|p.E106G(1)|p.S98S(1)	lung(2)	endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(319-321)tcC>tcT		Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.							217	205	209					1																	197889248		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889248C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.321C>T	1.37:g.197889248C>T						LHX9_uc001gui.1_Silent_p.S98S	p.S107S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			1	758	+			107			LIM zinc-binding 1.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.321C>T	CCDS1393.1																																																																																				0.557	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		T	197889248	C	T	197889248	2	4	170	1	0	0	0	0	0	0	0	1	8777	639	23	2		2	LHX9	1	197889248	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	11608660	197889248	51361373	11	12058											
OBSCN	84033	broad.mit.edu	37	chr1	228509734	228509734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgcatccgttttgaggcGctcactgaggcccgccaggc	6	9	12	14	3	2	2	1	2	1	0	3	2	3	2	3	3	1	3	3	3	0	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:228509734G>A	ENST00000422127.1	+	55	15236	c.15192G>A	c.(15190-15192)gcG>gcA	p.A5064A	OBSCN_ENST00000570156.2_Silent_p.A6021A|OBSCN_ENST00000366709.4_Silent_p.A2183A|OBSCN_ENST00000284548.11_Silent_p.A5064A|OBSCN_ENST00000366707.4_Silent_p.A2698A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5064					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGAGGCGCTCACTGAGG	0.612																																						uc009xez.1																			0		p.T5063S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15190-15192)gcG>gcA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							28	32	31					1																	228509734		2006	4161	6167	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509734G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15192G>A	1.37:g.228509734G>A						OBSCN_uc001hsn.3_Silent_p.A5064A	p.A5064A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			54	15236	+		Prostate(94;0.0405)	5064					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.15192G>A	CCDS58065.1																																																																																				0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228509734	G	A	228509734	2	1	170	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228509734	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	30620486	228509734	20740887	12	12059											
CCDC88A	55704	broad.mit.edu	37	chr2	55563820	55563821	+	Frame_Shift_Del	DEL	TC	TC	-																															gtaaaaaatgtatgaacctgTctctctgaattttctctcag																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:55563820_55563821delTC	ENST00000436346.1	-	14	2493_2494	c.1652_1653delGA	c.(1651-1653)agafs	p.R551fs	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.R551fs|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.R551fs|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.R551fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	551					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATGAACCTGTCTCTCTGAATT	0.262																																						uc002ryv.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1651-1653)agafs		Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55563820_55563821delTC	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1652_1653delGA	2.37:g.55563824_55563825delTC	ENSP00000410608:p.Arg551fs					CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.3_5'Flank	p.R551fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			13	2494_2495	-			551					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.1652_1653delGA																																																																																					0.262	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		-	55563821	TC	-	55563820	7	5	170	1	0	1	0	1	0	0	0	0	2863	1664	58	0	4038	0	CCDC88A	2	55563820	Frame_Shift_Del	DEL	TC	TCGA-19-5959-01A-11D-1696-08		55563820	187635553	13	12060											
SMYD5	10322	broad.mit.edu	37	chr2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-																															cctcagaagaggaagaggaaGaggaggaggaggaggaagga																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						uc002siw.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)gagdel		Homo sapiens SMYD family member 5 (SMYD5), mRNA.																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del					SMYD5_uc010yre.1_In_Frame_Del_p.E287del	p.E403del	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			12	1221_1223	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		-	73453011	GAG	-	73453009	7	5	170	1	0	1	0	1	0	0	0	0	14825	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-19-5959-01A-11D-1696-08	17889189	73453009	169746364	14	12061											
IL18RAP	8807	broad.mit.edu	37	chr2	103040451	103040451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacctatctgatgtccaatGgtaccaacaaccttcgaatg	12	10	7	12	2	1	1	0	1	1	0	3	3	2	1	4	1	3	1	4	1	6	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:103040451G>T	ENST00000264260.2	+	4	840	c.251G>T	c.(250-252)tGg>tTg	p.W84L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	84					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GATGTCCAATGGTACCAACAA	0.458																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(250-252)tGg>tTg		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							93	85	88					2																	103040451		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040451G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.251G>T	2.37:g.103040451G>T	ENSP00000264260:p.Trp84Leu					IL18RAP_uc010fiz.3_Intron	p.W84L	NM_003853	NP_003844	O95256	I18RA_HUMAN			3	735	+			84					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.251G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390859	0.62066	.	.	ENSG00000115607	ENST00000264260	T	0.37058	1.22	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000007	T	0.59998	0.2235	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61850	-0.6978	10	0.87932	D	0	.	15.3869	0.74708	0.0:0.0:1.0:0.0	.	84	O95256	I18RA_HUMAN	L	84	ENSP00000264260:W84L	ENSP00000264260:W84L	W	+	2	0	IL18RAP	102406883	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	4.359000	0.59449	2.771000	0.95319	0.563000	0.77884	TGG		0.458	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103040451	G	T	103040451	3	4	170	1	0	0	0	0	1	0	0	0	7648	1357	47	5	257	5	IL18RAP	2	103040451	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	29587442	103040451	140158922	15	12062											
LRP2	4036	broad.mit.edu	37	chr2	170112639	170112639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagatggcaagtccaaacGgatgtgtcatctgctctata	13	10	9	9	1	3	1	1	0	2	1	4	2	4	2	1	2	2	2	1	2	5	2	rs375755424		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:170112639G>A	ENST00000263816.3	-	19	3032	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	LRP2_ENST00000443831.1_Missense_Mutation_p.P779L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	916					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P916Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AAGTCCAAACGGATGTGTCAT	0.378																																						uc002ues.3																			1	Substitution - Missense(1)	p.P916Q(2)	lung(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2746-2748)cCg>cTg		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	LEU/PRO	0,4406		0,0,2203	107	101	103		2747	5.5	1	2		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	916/4656	170112639	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170112639G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2747C>T	2.37:g.170112639G>A	ENSP00000263816:p.Pro916Leu					LRP2_uc010zdf.1_Missense_Mutation_p.P779L	p.P916L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	18	2960	-			916					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2747C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020436	0.93462	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94758	-3.51;-3.51	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98237	1.0486	10	0.87932	D	0	.	19.4272	0.94746	0.0:0.0:1.0:0.0	.	779;916	E9PC35;P98164	.;LRP2_HUMAN	L	916;779	ENSP00000263816:P916L;ENSP00000409813:P779L	ENSP00000263816:P916L	P	-	2	0	LRP2	169820885	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.530000	0.98051	2.593000	0.87608	0.591000	0.81541	CCG		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170112639	G	A	170112639	3	1	170	1	0	0	0	0	1	0	0	0	8956	1116	39	2	11464	2	LRP2	2	170112639	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	67072188	170112639	73086734	16	12063											
TTN	7273	broad.mit.edu	37	chr2	179442111	179442111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctaatgtcttttcctGccttggaccaacttgatttt	7	18	7	9	0	2	1	0	1	2	0	3	2	3	2	3	2	2	0	3	2	2	7			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:179442111G>A	ENST00000591111.1	-	274	64252	c.64028C>T	c.(64027-64029)gCa>gTa	p.A21343V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A14111V|TTN_ENST00000589042.1_Missense_Mutation_p.A22984V|TTN_ENST00000342992.6_Missense_Mutation_p.A20416V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A14044V|TTN_ENST00000460472.2_Missense_Mutation_p.A13919V			Q8WZ42	TITIN_HUMAN	titin	21343	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTTTCCTGCCTTGGACCA	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(61246-61248)gCa>gTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							120	105	110					2																	179442111		1880	4110	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442111G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64028C>T	2.37:g.179442111G>A	ENSP00000465570:p.Ala21343Val					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A14111V|TTN_uc021vta.1_Missense_Mutation_p.A14044V|TTN_uc021vtb.1_Missense_Mutation_p.A13919V|AX746670_uc002umv.1_5'Flank	p.A20416V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		272	61472	-			21343			Fibronectin type-III 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.61247C>T		.	.	.	.	.	.	.	.	.	.	G	12.85	2.061277	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.72	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45478	0.1344	L	0.41710	1.295	0.45502	D	0.998466	B;B;B;P	0.35493	0.324;0.324;0.324;0.505	B;B;B;P	0.44732	0.305;0.305;0.305;0.459	T	0.48980	-0.8986	9	0.87932	D	0	.	15.6788	0.77352	0.0:0.0:0.7735:0.2265	.	13919;14044;14111;21343	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20416;13919;14111;14044;13917	ENSP00000343764:A20416V;ENSP00000434586:A13919V;ENSP00000340554:A14111V;ENSP00000352154:A14044V	ENSP00000340554:A14111V	A	-	2	0	TTN	179150357	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.247000	0.72411	0.830000	0.34757	0.655000	0.94253	GCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179442111	G	A	179442111	3	1	170	1	0	0	0	0	1	0	0	0	16732	1319	46	3	39184	3	TTN	2	179442111	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	9329472	179442111	63757262	17	12064											
MFF	56947	broad.mit.edu	37	chr2	228195421	228195421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagtacgaaatggaatatActgaaggcattagtcagcga	15	10	10	6	2	2	1	2	1	0	0	2	4	2	2	0	2	3	2	0	2	7	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:228195421A>T	ENST00000353339.3	+	4	559	c.118A>T	c.(118-120)Act>Tct	p.T40S	MFF_ENST00000349901.7_Missense_Mutation_p.T14S|MFF_ENST00000304593.9_Missense_Mutation_p.T14S|MFF_ENST00000524634.1_Intron|MFF_ENST00000409616.1_Missense_Mutation_p.T14S|MFF_ENST00000409565.1_Missense_Mutation_p.T14S|MFF_ENST00000354503.6_Missense_Mutation_p.T14S|MFF_ENST00000392059.1_Missense_Mutation_p.T40S|MFF_ENST00000337110.7_Missense_Mutation_p.T14S|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	40					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AATGGAATATACTGAAGGCAT	0.458																																						uc002vos.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(118-120)Act>Tct		Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.							83	69	74					2																	228195421		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195421A>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.118A>T	2.37:g.228195421A>T	ENSP00000302037:p.Thr40Ser					MFF_uc002vot.3_Missense_Mutation_p.T14S|MFF_uc002vow.3_Missense_Mutation_p.T14S|MFF_uc002voy.3_Missense_Mutation_p.T40S|MFF_uc021vxu.1_Missense_Mutation_p.T14S|MFF_uc002voz.3_Missense_Mutation_p.T14S	p.T40S	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN			3	530	+			40					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.118A>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194217	0.94960	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	T;T;T	0.45668	1.27;0.89;1.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.71036	2.16	0.58432	D	0.999999	D;D;B;D;D;D	0.76494	0.999;0.993;0.323;0.959;0.977;0.99	D;P;B;P;D;D	0.76575	0.988;0.834;0.182;0.61;0.935;0.949	T	0.66252	-0.5970	10	0.54805	T	0.06	-4.2361	16.1537	0.81640	1.0:0.0:0.0:0.0	.	14;14;14;14;14;40	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	S	14;14;40;14;14;14;14;14;14;14;40;14;40	ENSP00000302037:T40S;ENSP00000391829:T40S;ENSP00000375912:T40S	ENSP00000304898:T14S	T	+	1	0	MFF	227903665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.930000	0.92872	2.213000	0.71641	0.528000	0.53228	ACT		0.458	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		T	228195421	A	T	228195421	3	4	170	1	0	0	0	0	1	0	0	0	9519	391	14	5	124	5	MFF	2	228195421	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	48753310	228195421	15003952	18	12065											
UGT1A10	54575	broad.mit.edu	37	chr2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcttgacttatttttttCgcattgcaggagtttgttta	6	23	7	5	1	1	1	0	1	1	0	2	2	1	2	0	1	1	4	0	1	2	11	rs145610800		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:234545533C>T	ENST00000344644.5	+	1	434	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.S122L	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	122					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TTATTTTTTTCGCATTGCAGG	0.363																																						uc002vur.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(364-366)tCg>tTg		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	C	LEU/SER,	1,4405	2.1+/-5.4	0,1,2202	106	114	111		365,	2.8	0.6	2	dbSNP_134	111	0,8600		0,0,4300	no	missense,intron	UGT1A10,UGT1A8	NM_019075.2,NM_019076.4	145,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	122/531,	234545533	1,13005	2203	4300	6503	SO:0001583	missense	54575				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234545533C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.365C>T	2.37:g.234545533C>T	ENSP00000343838:p.Ser122Leu					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	411	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	125					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.365C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	1.678	-0.507136	0.04231	2.27E-4	0.0	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.61980	0.06;0.06	3.67	2.78	0.32641	.	.	.	.	.	T	0.47432	0.1445	L	0.37630	1.12	0.09310	N	1	P;B	0.40970	0.734;0.208	B;B	0.37780	0.258;0.11	T	0.25813	-1.0121	9	0.33940	T	0.23	.	6.6688	0.23056	0.0:0.673:0.1488:0.1782	.	122;122	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	L	122	ENSP00000343838:S122L;ENSP00000362544:S122L	ENSP00000343838:S122L	S	+	2	0	UGT1A10	234210272	0.000000	0.05858	0.597000	0.28824	0.023000	0.10783	-0.462000	0.06704	0.902000	0.36520	0.405000	0.27470	TCG		0.363	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		T	234545533	C	T	234545533	3	4	170	1	0	0	0	0	1	0	0	0	16942	893	31	2	367	2	UGT1A10	2	234545533	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	6350112	234545533	8653840	19	12066											
NEU4	129807	broad.mit.edu	37	chr2	242755707	242755707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctcgtaccccttcacGgacagtgctcttcgagcggg	5	9	12	15	4	2	0	1	0	1	0	5	2	3	1	3	3	3	2	3	3	1	3	rs138212045		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:242755707G>A	ENST00000391969.2	+	3	737	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	NEU4_ENST00000405370.1_Missense_Mutation_p.R9Q|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000407683.1_Missense_Mutation_p.R9Q|NEU4_ENST00000325935.6_Missense_Mutation_p.R22Q|NEU4_ENST00000404257.1_Missense_Mutation_p.R21Q	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	9					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCCCTTCACGGACAGTGCTC	0.692																																						uc002wcp.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(64-66)cGg>cAg		Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.			GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36	37	37		65,26,26,26,62	3.1	0	2	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	22/498,9/485,9/485,9/485,21/497	242755707	1,13005	2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755707G>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.26G>A	2.37:g.242755707G>A	ENSP00000375830:p.Arg9Gln					NEU4_uc010fzr.3_Missense_Mutation_p.R9Q|NEU4_uc002wcm.3_Missense_Mutation_p.R9Q|NEU4_uc002wco.2_Missense_Mutation_p.R9Q|NEU4_uc002wcn.2_Missense_Mutation_p.R21Q	p.R22Q	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	1	559	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	9					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.65G>A	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082359	0.76528	2.27E-4	0.0	ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	T;D;T;T;T;T;T;D;D;T;T	0.83837	2.98;-1.77;2.98;2.98;2.98;2.98;2.98;-1.77;-1.77;2.98;2.98	3.12	3.12	0.35913	Neuraminidase (1);	0.000000	0.85682	U	0.000000	D	0.87341	0.6153	L	0.54323	1.7	0.43230	D	0.995129	D;D;P	0.89917	1.0;1.0;0.792	D;D;B	0.87578	0.998;0.998;0.155	D	0.84838	0.0806	10	0.22706	T	0.39	-10.9157	14.3512	0.66702	0.0:0.0:1.0:0.0	.	21;21;9	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	Q	9;9;9;9;21;9;22;48;9;21;9;50	ENSP00000385402:R9Q;ENSP00000397167:R9Q;ENSP00000384804:R9Q;ENSP00000397860:R9Q;ENSP00000385149:R21Q;ENSP00000375830:R9Q;ENSP00000320318:R22Q;ENSP00000398571:R9Q;ENSP00000406678:R21Q;ENSP00000388707:R9Q;ENSP00000396197:R50Q	ENSP00000320318:R22Q	R	+	2	0	NEU4	242404380	0.993000	0.37304	0.025000	0.17156	0.031000	0.12232	4.575000	0.60908	1.587000	0.49959	0.443000	0.29094	CGG		0.692	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		A	242755707	G	A	242755707	3	1	170	1	0	0	0	0	1	0	0	0	10344	1116	39	2	71	2	NEU4	2	242755707	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	8210174	242755707	443666	20	12067											
FBLN2	2199	broad.mit.edu	37	chr3	13670420	13670420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacatcaacgagtgcaCgtcactgtccgagccatgtc	10	8	10	13	3	2	1	2	0	0	1	4	3	3	1	2	0	4	2	2	0	1	0	rs375695017		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670420C>T	ENST00000295760.7	+	11	2513	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	FBLN2_ENST00000404922.3_Missense_Mutation_p.T862M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T862M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T841M	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	815	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGAGTGCACGTCACTGTCC	0.662																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2584-2586)aCg>aTg		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.		C	MET/THR,MET/THR,MET/THR	0,4350		0,0,2175	37	41	40		2585,2585,2444	5.1	0.9	3		40	1,8567		0,1,4283	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	81,81,81	0,1,6458	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	862/1232,862/1232,815/1185	13670420	1,12917	2175	4284	6459	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670420C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2444C>T	3.37:g.13670420C>T	ENSP00000295760:p.Thr815Met					FBLN2_uc011auz.2_Missense_Mutation_p.T841M|FBLN2_uc011avb.2_Missense_Mutation_p.T815M|FBLN2_uc011ava.2_Missense_Mutation_p.T862M	p.T862M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		11	2967	+			863			EGF-like 6; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2585C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334854	0.41297	0.0	1.17E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.11	5.11	0.69529	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.115109	0.64402	D	0.000012	D	0.93501	0.7926	L	0.28556	0.865	0.44603	D	0.997571	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.998;0.999	D	0.93829	0.7126	10	0.48119	T	0.1	.	18.146	0.89655	0.0:1.0:0.0:0.0	.	815;862;841	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	M	841;862;815;862	ENSP00000445705:T841M;ENSP00000384169:T862M;ENSP00000295760:T815M;ENSP00000420042:T862M	ENSP00000295760:T815M	T	+	2	0	FBLN2	13645421	0.994000	0.37717	0.938000	0.37757	0.047000	0.14425	1.773000	0.38563	2.366000	0.80165	0.655000	0.94253	ACG		0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13670420	C	T	13670420	3	4	170	1	0	0	0	0	1	0	0	0	5699	536	19	1	1317	1	FBLN2	3	13670420	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		13670420	184352010	21	12068											
FBLN2	2199	broad.mit.edu	37	chr3	13670486	13670486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggctcctacacatgccAgaggaacccgctgatctgcg	8	7	13	13	2	1	2	0	1	1	1	2	3	2	3	3	3	4	2	3	3	2	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670486A>G	ENST00000295760.7	+	11	2579	c.2510A>G	c.(2509-2511)cAg>cGg	p.Q837R	FBLN2_ENST00000404922.3_Missense_Mutation_p.Q884R|FBLN2_ENST00000492059.1_Missense_Mutation_p.Q884R|FBLN2_ENST00000535798.1_Missense_Mutation_p.Q863R	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	837	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TACACATGCCAGAGGAACCCG	0.652																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2650-2652)cAg>cGg		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							42	47	45					3																	13670486		2176	4284	6460	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670486A>G	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2510A>G	3.37:g.13670486A>G	ENSP00000295760:p.Gln837Arg					FBLN2_uc011auz.2_Missense_Mutation_p.Q863R|FBLN2_uc011avb.2_Missense_Mutation_p.Q837R|FBLN2_uc011ava.2_Missense_Mutation_p.Q884R	p.Q884R	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		11	3033	+			885			EGF-like 6; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2651A>G	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165978	0.78339	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.91631	-2.88;-2.88;-2.25;-2.88	5.11	5.11	0.69529	EGF-like calcium-binding (2);	0.182838	0.49916	D	0.000139	D	0.92215	0.7531	N	0.20357	0.565	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.79784	0.982;0.993;0.993	D	0.92844	0.6291	10	0.48119	T	0.1	.	14.5761	0.68249	1.0:0.0:0.0:0.0	.	837;884;863	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	R	863;884;837;884	ENSP00000445705:Q863R;ENSP00000384169:Q884R;ENSP00000295760:Q837R;ENSP00000420042:Q884R	ENSP00000295760:Q837R	Q	+	2	0	FBLN2	13645487	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.233000	0.65337	1.917000	0.55516	0.533000	0.62120	CAG		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		G	13670486	A	G	13670486	3	3	170	1	0	0	0	0	1	0	0	0	5699	188	7	4	1383	4	FBLN2	3	13670486	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	66	13670486	184351944	22	12069											
KCNH8	131096	broad.mit.edu	37	chr3	19575088	19575088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctacacttgcaaacaggcGgggctgcttatacccaagca	11	7	10	13	1	0	0	0	0	0	0	0	0	0	0	2	3	6	4	2	3	5	4	rs527585599		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:19575088G>A	ENST00000328405.2	+	16	3087	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	941					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAACAGGCGGGGCTGCTTA	0.547													G|||	1	0.000199681	0	0	5008	,	,		18493	0		0	False		,,,				2504	0.001				NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2821-2823)Ggg>Agg		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							81	79	80					3																	19575088		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575088G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2821G>A	3.37:g.19575088G>A	ENSP00000328813:p.Gly941Arg					KCNH8_uc010hex.1_Missense_Mutation_p.G402R	p.G941R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	3016	+			941					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2821G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	2.767	-0.256639	0.05829	.	.	ENSG00000183960	ENST00000328405	D	0.98280	-4.84	5.58	4.6	0.57074	.	0.709223	0.10956	U	0.615456	D	0.94132	0.8118	L	0.40543	1.245	0.41984	D	0.990814	P	0.35307	0.494	B	0.22753	0.041	D	0.90653	0.4584	9	.	.	.	.	3.6539	0.08213	0.3481:0.0:0.6519:0.0	.	941	Q96L42	KCNH8_HUMAN	R	941	ENSP00000328813:G941R	.	G	+	1	0	KCNH8	19550092	0.228000	0.23718	0.014000	0.15608	0.059000	0.15707	3.331000	0.52075	2.616000	0.88540	0.655000	0.94253	GGG		0.547	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		A	19575088	G	A	19575088	3	1	170	1	0	0	0	0	1	0	0	0	8038	1116	39	2	2883	2	KCNH8	3	19575088	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5904602	19575088	178447342	23	12070											
RTP3	83597	broad.mit.edu	37	chr3	46542293	46542293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaatgtctattcctaCgcatgccaaaaccacatctg	13	9	8	11	1	2	1	0	0	2	1	3	3	3	2	3	1	3	1	3	1	5	3	rs547846654		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:46542293C>T	ENST00000296142.3	+	2	1175	c.603C>T	c.(601-603)taC>taT	p.Y201Y		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	201					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTATTCCTACGCATGCCAAA	0.453													C|||	1	0.000199681	0	0.0014	5008	,	,		21194	0		0	False		,,,				2504	0					uc003cps.1																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(601-603)taC>taT		Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.							82	79	80					3																	46542293		2203	4300	6503	SO:0001819	synonymous_variant	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542293C>T	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.603C>T	3.37:g.46542293C>T							p.Y201Y	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	1	671	+			201					A2RRP6	Silent	SNP	ENST00000296142.3	37	c.603C>T	CCDS2740.1																																																																																				0.453	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		T	46542293	C	T	46542293	2	4	170	1	0	0	0	0	0	0	0	1	13735	547	19	1		1	RTP3	3	46542293	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	26967205	46542293	151480137	24	12071											
DNAH1	25981	broad.mit.edu	37	chr3	52433096	52433096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggcctggatccaagatgGcatcccagctgtcttctgga	8	9	12	12	0	2	1	0	0	2	1	4	3	4	3	3	4	1	3	3	4	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52433096G>C	ENST00000420323.2	+	76	12581	c.12320G>C	c.(12319-12321)gGc>gCc	p.G4107A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4172					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCAAGATGGCATCCCAGCT	0.532																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12319-12321)gGc>gCc		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							207	215	213					3																	52433096		1992	4161	6153	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433096G>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12320G>C	3.37:g.52433096G>C	ENSP00000401514:p.Gly4107Ala					DNAH1_uc003ddv.3_Missense_Mutation_p.G965A	p.G4107A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	75	12581	+			4172					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12320G>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355716	0.61293	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08282	3.11	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000003	T	0.34658	0.0905	M	0.86502	2.82	0.49389	D	0.999787	D;D	0.89917	1.0;0.986	D;P	0.97110	1.0;0.64	T	0.38373	-0.9664	10	0.62326	D	0.03	.	17.1652	0.86814	0.0:0.0:1.0:0.0	.	4107;4172	C9JXH6;Q9P2D7-2	.;.	A	4107;860	ENSP00000401514:G4107A	ENSP00000273600:G860A	G	+	2	0	DNAH1	52408136	1.000000	0.71417	0.996000	0.52242	0.629000	0.37895	7.663000	0.83820	2.356000	0.79943	0.655000	0.94253	GGC		0.532	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		C	52433096	G	C	52433096	3	2	170	1	0	0	0	0	1	0	0	0	4597	1203	42	5	12618	5	DNAH1	3	52433096	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5890803	52433096	145589334	25	12072											
NT5DC2	64943	broad.mit.edu	37	chr3	52563292	52563292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcacgcaggctgatctcGttgttggcgtagatggctgc	6	11	14	10	4	2	2	1	1	1	1	3	2	2	2	0	3	1	6	0	3	1	3	rs148646310	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52563292G>A	ENST00000307076.4	-	2	580	c.180C>T	c.(178-180)aaC>aaT	p.N60N	NT5DC2_ENST00000307092.4_Silent_p.N26N|NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000459839.1_Silent_p.N97N|NT5DC2_ENST00000422318.2_Silent_p.N97N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	60							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCTGATCTCGTTGTTGGCGT	0.592													G|||	2	0.000399361	8e-04	0	5008	,	,		20812	0		0	False		,,,				2504	0.001					uc003den.3																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(289-291)aaC>aaT		Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	219	178	192		291,180	-5.1	1	3	dbSNP_134	192	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NT5DC2	NM_001134231.1,NM_022908.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	97/558,60/521	52563292	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52563292G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.180C>T	3.37:g.52563292G>A						NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Silent_p.N97N|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Silent_p.N60N	p.N97N	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	1	331	-			60					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.291C>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892327	0.17613	2.27E-4	0.0	ENSG00000168268	ENST00000489316	.	.	.	5.38	-5.08	0.02929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.8645	16.9029	0.86117	0.7841:0.0:0.2159:0.0	.	.	.	.	X	29	.	.	R	-	1	2	NT5DC2	52538332	0.869000	0.29996	0.971000	0.41717	0.971000	0.66376	0.049000	0.14099	-0.753000	0.04721	-0.378000	0.06908	CGA		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		A	52563292	G	A	52563292	2	1	170	1	0	0	0	0	0	0	0	1	10691	1136	40	1		1	NT5DC2	3	52563292	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	130196	52563292	145459138	26	12073											
KIAA1524	57650	broad.mit.edu	37	chr3	108276241	108276241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcaacttctctcaaCatactagcaagtgtccgtgc	9	14	5	13	1	4	0	2	0	2	0	7	0	5	0	1	0	5	1	1	0	5	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:108276241C>A	ENST00000295746.8	-	17	2110	c.2034G>T	c.(2032-2034)atG>atT	p.M678I	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M519I	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	678					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTCAACATACTAGCAA	0.368																																						uc003dxb.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2032-2034)atG>atT		Homo sapiens KIAA1524 (KIAA1524), mRNA.							94	83	86					3																	108276241		2201	4300	6501	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108276241C>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2034G>T	3.37:g.108276241C>A	ENSP00000295746:p.Met678Ile						p.M678I	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			16	2303	-			678					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2034G>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749195	0.69533	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.29655	1.56;1.56	5.89	5.89	0.94794	.	0.048339	0.85682	D	0.000000	T	0.26774	0.0655	N	0.24115	0.695	0.47153	D	0.999333	P	0.44690	0.841	B	0.39840	0.311	T	0.03121	-1.1070	10	0.59425	D	0.04	-19.7774	20.2527	0.98410	0.0:1.0:0.0:0.0	.	678	Q8TCG1	CIP2A_HUMAN	I	519;678	ENSP00000419487:M519I;ENSP00000295746:M678I	ENSP00000295746:M678I	M	-	3	0	KIAA1524	109758931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.320000	0.59203	2.788000	0.95919	0.557000	0.71058	ATG		0.368	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		A	108276241	C	A	108276241	3	1	170	1	0	0	0	0	1	0	0	0	8239	478	17	5	703	5	KIAA1524	3	108276241	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	55712949	108276241	89746189	27	12074											
PLSCR2	57047	broad.mit.edu	37	chr3	146177634	146177634	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttacgtatttgaaattaCctgacttaagtattccaatc	13	17	4	7	1	0	2	0	2	0	0	2	2	1	2	2	0	2	2	2	0	7	8			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:146177634C>T	ENST00000497985.1	-	4	716		c.e4+1		PLSCR2_ENST00000336685.2_Splice_Site	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2						phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTTGAAATTACCTGACTTAAG	0.373																																						uc021xfa.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.e4+1		Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.							114	111	112					3																	146177634		2203	4300	6503	SO:0001630	splice_region_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146177634C>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.276+1G>A	3.37:g.146177634C>T						PLSCR2_uc003evw.2_Splice_Site_p.Q88_splice|PLSCR2_uc003evv.2_Splice_Site_p.Q19_splice	p.Q92_splice	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN			4	716	-			19					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Splice_Site	SNP	ENST00000497985.1	37	c.276_splice	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513717	0.44763	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.351	0.83208	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLSCR2	147660324	1.000000	0.71417	0.757000	0.31301	0.164000	0.22412	5.715000	0.68430	2.138000	0.66242	0.563000	0.77884	.		0.373	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	Intron	T	146177634	C	T	146177634	5	4	170	1	0	0	0	0	0	0	1	0	12110	521	18	3	640	3	PLSCR2	3	146177634	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	37901393	146177634	51844796	28	12075											
NFXL1	152518	broad.mit.edu	37	chr4	47864932	47864932	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagctgtggttattttTctaaaaataagaaagttgat	15	15	7	4	0	2	2	1	1	1	1	2	2	2	2	0	1	1	3	0	1	6	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:47864932T>C	ENST00000507489.1	-	19	2423	c.2247A>G	c.(2245-2247)agA>agG	p.R749R	NFXL1_ENST00000381538.3_Splice_Site_p.R749R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	749						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGGTTATTTTTCTAAAAATAA	0.269																																						uc010igh.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.e19-1		Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.							107	113	111					4																	47864932		2203	4298	6501	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47864932T>C	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2247-1A>G	4.37:g.47864932T>C						NFXL1_uc003gxo.3_Splice_Site_p.R74_splice|NFXL1_uc003gxp.3_Splice_Site_p.R749_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.R749_splice	p.R749_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			19	2424	-			749					B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	c.2247_splice	CCDS3478.2																																																																																				0.269	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Silent	C	47864932	T	C	47864932	5	2	170	1	0	0	0	0	0	0	1	0	10388	1797	62	4	508	4	NFXL1	4	47864932	Splice_Site	SNP	T	TCGA-19-5959-01A-11D-1696-08		47864932	143289344	29	12076											
TXK	7294	broad.mit.edu	37	chr4	48069656	48069656	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcattctgtttccggtcAccaggtttccgcaatctctg	5	15	9	12	2	3	0	1	0	2	0	6	0	5	0	3	3	0	4	3	3	1	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:48069656A>T	ENST00000264316.4	-	15	1667	c.1582T>A	c.(1582-1584)Tga>Aga	p.*528R	TXK_ENST00000507351.1_Nonstop_Mutation_p.*183R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	0					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTTTCCGGTCACCAGGTTTCC	0.483																																						uc003gxx.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(1582-1584)Tga>Aga		Homo sapiens TXK tyrosine kinase (TXK), mRNA.							119	125	123					4																	48069656		2203	4300	6503	SO:0001578	stop_lost	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48069656A>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1582T>A	4.37:g.48069656A>T						TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Nonstop_Mutation_p.*215R	p.*528R	NM_003328	NP_003319	P42681	TXK_HUMAN			14	1668	-			0					Q14220	Nonstop_Mutation	SNP	ENST00000264316.4	37	c.1582T>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	A	8.026	0.760733	0.15914	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0574	0.19819	0.6729:0.1669:0.0:0.1601	.	.	.	.	R	528;183	.	.	X	-	1	0	TXK	47764413	1.000000	0.71417	0.991000	0.47740	0.071000	0.16799	2.794000	0.47853	2.207000	0.71202	0.459000	0.35465	TGA		0.483	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		T	48069656	A	T	48069656	4	4	170	1	0	0	0	0	0	0	0	0	16783	172	6	5	5	5	TXK	4	48069656	Nonstop_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	204724	48069656	143084620	30	12077											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68934340	68934340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggttaacttacttccAaaagcagtgagctgctgtga	10	12	10	9	0	0	2	0	2	0	0	1	2	1	2	2	1	5	4	2	1	4	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:68934340A>G	ENST00000356291.2	-	7	810	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTTACTTCCAAAAGCAGTGA	0.522																																						uc003hdt.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(751-753)Tgg>Cgg		Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.							65	58	60					4																	68934340		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934340A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.751T>C	4.37:g.68934340A>G	ENSP00000348639:p.Trp251Arg					LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	p.W251R	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			6	800	-			251			Peptidase S1.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.751T>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.391535	0.00200	.	.	ENSG00000198092	ENST00000356291	D	0.87729	-2.29	5.73	0.809	0.18725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.849622	0.10231	N	0.699659	T	0.56156	0.1966	N	0.00422	-1.515	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.51996	-0.8634	10	0.12103	T	0.63	.	3.5452	0.07826	0.2526:0.0:0.4501:0.2973	.	251	Q6ZWK6	TM11F_HUMAN	R	251	ENSP00000348639:W251R	ENSP00000348639:W251R	W	-	1	0	TMPRSS11F	68616935	0.015000	0.18098	0.305000	0.25099	0.017000	0.09413	-0.112000	0.10791	-0.165000	0.10908	-0.132000	0.14878	TGG		0.522	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		G	68934340	A	G	68934340	3	3	170	1	0	0	0	0	1	0	0	0	16240	130	5	4	581	4	TMPRSS11F	4	68934340	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	20864684	68934340	122219936	31	12078											
SCARB2	950	broad.mit.edu	37	chr4	77102252	77102255	+	Splice_Site	DEL	TCCC	TCCC	-																															tatttgctttgtttctgagtTccctaaaagaaagaaaaggg																								rs145870223	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:77102252_77102255delTCCC	ENST00000264896.2	-	3	625_627	c.276_278delGGGA	c.(274-279)agggga>aga	p.G93fs	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	93					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GTTTCTGAGTTCCCTAAAAGAAAG	0.319																																						uc003hju.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.e3-1		Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77102252_77102255delTCCC	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.276-1GGGA>-	4.37:g.77102252_77102255delTCCC						SCARB2_uc011cbu.2_Intron	p.R92_splice	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		3	632	-			92					B4DKD8|E7EM68|Q53Y63	Splice_Site	DEL	ENST00000264896.2	37	c.276_splice	CCDS3577.1																																																																																				0.319	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	Frame_Shift_Del	-	77102255	TCCC	-	77102252	8	5	170	1	0	1	0	1	0	0	1	0	13882	1783	62	0	1198	0	SCARB2	4	77102252	Splice_Site	DEL	TCCC	TCGA-19-5959-01A-11D-1696-08	8167912	77102252	114052024	32	12079											
CDH18	1016	broad.mit.edu	37	chr5	19503219	19503219	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgatggtatgaataacCtaaagaaaagacaaactcta	19	8	7	7	0	1	4	0	2	1	2	1	4	1	4	1	1	2	2	1	1	9	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:19503219C>G	ENST00000507958.1	-	13	2503		c.e13-1		CDH18_ENST00000506372.1_Splice_Site|CDH18_ENST00000274170.4_Splice_Site|CDH18_ENST00000382275.1_Splice_Site|CDH18_ENST00000511273.1_Splice_Site|CDH18_ENST00000502796.1_Splice_Site			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGAATAACCTAAAGAAAAG	0.303																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.e11-1		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							97	90	92					5																	19503219		2203	4300	6503	SO:0001630	splice_region_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503219C>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1513-1G>C	5.37:g.19503219C>G						CDH18_uc011cnm.2_Splice_Site_p.V505_splice|CDH18_uc003jgc.3_Splice_Site_p.V505_splice|CDH18_uc021xwu.1_Splice_Site_p.V505_splice	p.V505_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2047	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		505			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Splice_Site	SNP	ENST00000507958.1	37	c.1513_splice	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497898	0.64186	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0605	0.59003	0.0:0.9218:0.0:0.0782	.	.	.	.	.	-1	.	.	.	-	.	.	CDH18	19538976	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.666000	0.74446	1.322000	0.45245	0.650000	0.86243	.		0.303	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	Intron	G	19503219	C	G	19503219	5	3	170	1	0	0	0	0	0	0	1	0	3103	695	24	5	872	5	CDH18	5	19503219	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08		19503219	161412041	33	12080											
CDH9	1007	broad.mit.edu	37	chr5	26881626	26881626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatcttcttccccgccGccttcatcgttgtaggtcac	4	14	9	14	3	4	0	2	0	2	0	6	0	5	0	4	2	0	3	4	2	2	6	rs202002897		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:26881626G>A	ENST00000231021.4	-	12	2161	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	663					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438													G|||	1	0.000199681	0	0	5008	,	,		16632	0.001		0	False		,,,				2504	0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1987-1989)ggC>ggT		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							162	164	163					5																	26881626		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881626G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1989C>T	5.37:g.26881626G>A						CDH9_uc011cnv.1_Silent_p.G256G	p.G663G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2158	-			663					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1989C>T	CCDS3893.1																																																																																				0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26881626	G	A	26881626	2	1	170	1	0	0	0	0	0	0	0	1	3117	1074	38	1		1	CDH9	5	26881626	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	7378407	26881626	154033634	34	12081											
UGT3A2	167127	broad.mit.edu	37	chr5	36035988	36035988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccccctgtctggaggaCgtggtcaatccagcccacca	7	6	11	17	3	2	0	1	0	1	0	3	2	3	2	5	3	1	0	5	3	1	0	rs545963580		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:36035988C>T	ENST00000282507.3	-	7	1485	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	UGT3A2_ENST00000513300.1_Missense_Mutation_p.V428I|UGT3A2_ENST00000545528.1_Missense_Mutation_p.V160I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	462					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCTGGAGGACGTGGTCAATC	0.617													C|||	1	0.000199681	0	0	5008	,	,		15483	0		0	False		,,,				2504	0.001					uc003jjz.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1384-1386)Gtc>Atc		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.							39	37	38					5																	36035988		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035988C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1384G>A	5.37:g.36035988C>T	ENSP00000282507:p.Val462Ile					UGT3A2_uc011cos.2_Missense_Mutation_p.V428I|UGT3A2_uc011cot.2_Missense_Mutation_p.V160I	p.V462I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1516	-	all_lung(31;0.000179)		462					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1384G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.312753	0.01331	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.65732	-0.17;-0.17;-0.17	2.74	-1.18	0.09617	.	0.081019	0.46442	N	0.000281	T	0.32793	0.0841	N	0.05012	-0.13	0.20074	N	0.999931	B;B	0.31655	0.334;0.027	B;B	0.31016	0.123;0.003	T	0.21965	-1.0230	10	0.35671	T	0.21	.	7.3078	0.26457	0.0:0.3223:0.0:0.6777	.	428;462	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	462;428;160	ENSP00000282507:V462I;ENSP00000427404:V428I;ENSP00000445367:V160I	ENSP00000282507:V462I	V	-	1	0	UGT3A2	36071745	1.000000	0.71417	0.020000	0.16555	0.016000	0.09150	0.882000	0.28186	-0.227000	0.09884	-1.264000	0.01445	GTC		0.617	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		T	36035988	C	T	36035988	3	4	170	1	0	0	0	0	1	0	0	0	16961	536	19	1	191	1	UGT3A2	5	36035988	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	9154362	36035988	144879272	35	12082											
PCDHA7	56141	broad.mit.edu	37	chr5	140215418	140215418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcgggggacgcggacGcgcagaagaacgcgctggtg	7	4	20	10	8	0	2	0	0	0	2	1	4	0	4	0	5	1	2	0	5	2	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:140215418G>A	ENST00000525929.1	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A484T|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGAAGAA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1450-1452)Gcg>Acg		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							45	49	47					5																	140215418		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140215418G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1450G>A	5.37:g.140215418G>A	ENSP00000436426:p.Ala484Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A484T	p.A484T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1450	+			498			Cadherin 5.		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1450G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	5.103	0.204636	0.09704	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01838	4.61;4.61	4.0	1.82	0.25136	Cadherin (4);Cadherin-like (1);	0.000000	0.31519	U	0.007516	T	0.01765	0.0056	N	0.04508	-0.205	0.09310	N	1	B;B	0.25105	0.118;0.085	B;B	0.40825	0.061;0.341	T	0.45963	-0.9225	10	0.49607	T	0.09	.	4.8727	0.13640	0.2828:0.1546:0.5626:0.0	.	484;484	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	484	ENSP00000436426:A484T;ENSP00000367365:A484T	ENSP00000367365:A484T	A	+	1	0	PCDHA7	140195602	0.000000	0.05858	0.949000	0.38748	0.214000	0.24535	-0.439000	0.06897	0.141000	0.18875	0.298000	0.19748	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215418	G	A	140215418	3	1	170	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1452	1	PCDHA7	5	140215418	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	104179430	140215418	40699842	36	12083											
DRD1	1812	broad.mit.edu	37	chr5	174869392	174869392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctggcaattcttggcGtggactgctgccctctccaa	5	12	12	12	1	3	0	0	0	3	0	4	1	3	1	2	4	2	2	2	4	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:174869392G>A	ENST00000393752.2	-	2	1703	c.711C>T	c.(709-711)caC>caT	p.H237H		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	237					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AATTCTTGGCGTGGACTGCTG	0.483																																						uc003mcz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(709-711)caC>caT		Homo sapiens dopamine receptor D1 (DRD1), mRNA.	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						108	109	109					5																	174869392		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869392G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.711C>T	5.37:g.174869392G>A						DRD1_uc021yia.1_Silent_p.H237H	p.H237H	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1656	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	237					B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.711C>T	CCDS4393.1																																																																																				0.483	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		A	174869392	G	A	174869392	2	1	170	1	0	0	0	0	0	0	0	1	4756	1136	40	1		1	DRD1	5	174869392	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	34653974	174869392	6045868	37	12084											
EEF1A1	1915	broad.mit.edu	37	chr6	74229088	74229088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtaatcatgtttttgAtaaagtctctgtgtcctggg	7	17	9	8	0	2	1	1	1	1	0	5	1	4	1	2	1	0	2	2	1	3	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:74229088A>G	ENST00000316292.9	-	2	1287	c.296T>C	c.(295-297)aTc>aCc	p.I99T	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I99T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I99T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	99	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATGTTTTTGATAAAGTCTCT	0.408											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(295-297)aTc>aCc		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							112	126	122					6																	74229088		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229088A>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.296T>C	6.37:g.74229088A>G	ENSP00000339063:p.Ile99Thr		OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.I99T|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	p.I99T	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	1288	-			99					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.296T>C	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601483	0.46423	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303;ENST00000455918	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	4.45	4.45	0.53987	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	T	0.74222	0.3688	L	0.46614	1.455	0.80722	D	1	B;D;B;B	0.56521	0.029;0.976;0.029;0.029	P;D;P;P	0.87578	0.752;0.998;0.752;0.819	T	0.78648	-0.2122	10	0.87932	D	0	.	14.102	0.65062	1.0:0.0:0.0:0.0	.	99;99;99;99	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	T	99	ENSP00000339063:I99T;ENSP00000339053:I99T;ENSP00000330054:I99T;ENSP00000348651:I99T;ENSP00000392366:I99T	ENSP00000339053:I99T	I	-	2	0	EEF1A1	74285809	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	8.961000	0.93122	1.789000	0.52484	0.449000	0.29647	ATC		0.408	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		G	74229088	A	G	74229088	3	3	170	1	0	0	0	0	1	0	0	0	4923	333	12	4	1116	4	EEF1A1	6	74229088	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08		74229088	96885979	38	12085											
BACH2	60468	broad.mit.edu	37	chr6	90660866	90660866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggccccagctggggccgtgGgggtaggggcagggctgggc	3	4	23	11	2	0	0	0	0	0	0	0	0	0	0	3	9	1	4	3	9	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:90660866G>A	ENST00000257749.4	-	7	1666	c.959C>T	c.(958-960)cCc>cTc	p.P320L	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.P320L|BACH2_ENST00000537989.1_Missense_Mutation_p.P320L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	320						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGCCGTGGGGGTAGGGGC	0.637																																						uc011eab.2																			0		p.P320S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(958-960)cCc>cTc		Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.							27	29	29					6																	90660866		2202	4300	6502	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660866G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.959C>T	6.37:g.90660866G>A	ENSP00000257749:p.Pro320Leu					BACH2_uc003pnw.3_Missense_Mutation_p.P320L|BACH2_uc010kch.3_Missense_Mutation_p.P320L	p.P320L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	1833	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	320					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.959C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	7.738	0.700613	0.15106	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.35973	1.28;1.28;1.28	4.92	4.92	0.64577	.	0.262069	0.27696	N	0.018240	T	0.11067	0.0270	N	0.19112	0.55	0.32627	N	0.52257	B	0.02656	0.0	B	0.04013	0.001	T	0.07065	-1.0792	10	0.45353	T	0.12	-14.643	9.093	0.36623	0.0966:0.0:0.9034:0.0	.	320	Q9BYV9	BACH2_HUMAN	L	320	ENSP00000257749:P320L;ENSP00000437473:P320L;ENSP00000345642:P320L	ENSP00000257749:P320L	P	-	2	0	BACH2	90717587	0.445000	0.25657	0.640000	0.29408	0.067000	0.16453	0.000000	0.12993	2.560000	0.86352	0.655000	0.94253	CCC		0.637	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90660866	G	A	90660866	3	1	170	1	0	0	0	0	1	0	0	0	1284	1232	43	3	1578	3	BACH2	6	90660866	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	16431778	90660866	80454201	39	12086											
FAM184A	79632	broad.mit.edu	37	chr6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaattcttcaagctcttgcGtaagccgctgtcgttcttgc	6	15	8	12	3	4	0	1	0	3	0	5	0	4	0	1	0	4	4	1	0	3	7			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:119301415G>A	ENST00000338891.7	-	10	2632	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.T610M|FAM184A_ENST00000521531.1_Missense_Mutation_p.T730M|FAM184A_ENST00000352896.5_Missense_Mutation_p.T610M	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	730						extracellular space (GO:0005615)		p.T730M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423																																						uc003pyj.3																			1	Substitution - Missense(1)	p.T730M(2)|p.T730T(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2188-2190)aCg>aTg		Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.							125	117	120					6																	119301415		1907	4128	6035	SO:0001583	missense	79632							g.chr6:119301415G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2189C>T	6.37:g.119301415G>A	ENSP00000342604:p.Thr730Met					FAM184A_uc003pyk.4_Missense_Mutation_p.T610M|FAM184A_uc003pyl.4_Missense_Mutation_p.T610M	p.T730M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			9	2537	-			730					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2189C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231489	0.79688	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.17	6.17	0.99709	.	0.183892	0.52532	D	0.000072	T	0.42040	0.1185	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.66497	0.942;0.855;0.944	T	0.04650	-1.0936	10	0.48119	T	0.1	-14.5524	20.8794	0.99867	0.0:0.0:1.0:0.0	.	730;610;730	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	M	730;610;610;730	ENSP00000342604:T730M;ENSP00000326608:T610M;ENSP00000357460:T610M;ENSP00000430442:T730M	ENSP00000342604:T730M	T	-	2	0	FAM184A	119343114	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.608000	0.67654	2.941000	0.99782	0.655000	0.94253	ACG		0.423	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		A	119301415	G	A	119301415	3	1	170	1	0	0	0	0	1	0	0	0	5511	1145	40	1	1269	1	FAM184A	6	119301415	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	28640549	119301415	51813652	40	12087											
TTYH3	80727	broad.mit.edu	37	chr7	2687687	2687687	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccaagggcatcctggtgGggtgagtctgggggtgtcgg	4	9	20	8	1	1	1	0	1	1	0	4	1	3	1	2	7	0	2	2	7	1	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:2687687G>T	ENST00000258796.7	+	5	926	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Splice_Site_p.G70W	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	241					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CATCCTGGTGGGGTGAGTCTG	0.662																																						uc003smp.3																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.e5+1		Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.							75	63	67					7																	2687687		2202	4300	6502	SO:0001630	splice_region_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687687G>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.722+1G>T	7.37:g.2687687G>T						TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Splice_Site_p.G70_splice	p.G241_splice	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	909	+		Ovarian(82;0.0112)	241					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.722_splice	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431870	0.62844	.	.	ENSG00000136295	ENST00000258796;ENST00000403167	T;T	0.11930	2.73;2.73	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.13255	-1.0516	10	0.38643	T	0.18	.	17.2022	0.86909	0.0:0.0:1.0:0.0	.	70;241	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	W	241;70	ENSP00000258796:G241W;ENSP00000385015:G70W	ENSP00000258796:G241W	G	+	1	0	TTYH3	2654213	1.000000	0.71417	0.968000	0.41197	0.790000	0.44656	9.096000	0.94182	2.121000	0.65114	0.561000	0.74099	GGG		0.662	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523	Missense_Mutation	T	2687687	G	T	2687687	5	4	170	1	0	0	0	0	0	0	1	0	16738	1246	43	5	739	5	TTYH3	7	2687687	Splice_Site	SNP	G	TCGA-19-5959-01A-11D-1696-08		2687687	156450976	41	12088											
AHR	196	broad.mit.edu	37	chr7	17379818	17379818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagatgcagtacaatcCagtactgccaggccaacagg	12	6	12	11	0	1	1	1	0	0	1	2	1	2	1	3	3	5	3	3	3	4	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:17379818C>T	ENST00000242057.4	+	10	3012	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	790					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CAGTACAATCCAGTACTGCCA	0.443																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2368-2370)cCa>cTa		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							59	60	60					7																	17379818		2182	4297	6479	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379818C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2369C>T	7.37:g.17379818C>T	ENSP00000242057:p.Pro790Leu						p.P790L	NM_001621	NP_001612	P35869	AHR_HUMAN			9	2982	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		790					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.2369C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670294	0.67814	.	.	ENSG00000106546	ENST00000242057	T	0.56275	0.47	5.25	4.34	0.51931	.	0.221806	0.39083	N	0.001475	T	0.61515	0.2353	M	0.77103	2.36	0.09310	N	0.999998	P	0.52842	0.956	P	0.48368	0.575	T	0.61332	-0.7084	10	0.59425	D	0.04	.	15.4511	0.75274	0.1388:0.8612:0.0:0.0	.	790	P35869	AHR_HUMAN	L	790	ENSP00000242057:P790L	ENSP00000242057:P790L	P	+	2	0	AHR	17346343	0.068000	0.21057	0.010000	0.14722	0.015000	0.08874	3.885000	0.56182	2.729000	0.93468	0.650000	0.86243	CCA		0.443	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		T	17379818	C	T	17379818	3	4	170	1	0	0	0	0	1	0	0	0	416	594	21	3	2407	3	AHR	7	17379818	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	14692131	17379818	141758845	42	12089											
MGC26647	219557	broad.mit.edu	37	chr7	88423665	88423665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaacttggtgtaagttatCgcctggtcctttagtgccta	7	15	10	9	1	0	0	0	0	0	0	2	0	1	0	3	2	3	3	3	2	5	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:88423665C>T	ENST00000297203.2	-	2	777	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	198								p.D198N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTAAGTTATCGCCTGGTCCT	0.423																																						uc003ujv.3																			2	Substitution - Missense(2)	p.D198N(4)	large_intestine(1)|skin(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(592-594)Gat>Aat		Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.							199	161	174					7																	88423665		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423665C>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.592G>A	7.37:g.88423665C>T	ENSP00000297203:p.Asp198Asn					ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.D198N	p.D198N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN			1	774	-			198						Missense_Mutation	SNP	ENST00000297203.2	37	c.592G>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515374	0.64634	.	.	ENSG00000164645	ENST00000297203	T	0.24723	1.84	5.91	5.03	0.67393	.	0.262333	0.36101	N	0.002792	T	0.29288	0.0729	M	0.74881	2.28	0.38929	D	0.957903	B	0.28439	0.212	B	0.22880	0.042	T	0.17137	-1.0379	10	0.62326	D	0.03	-0.699	11.0043	0.47624	0.0:0.9153:0.0:0.0847	.	198	Q8TBZ9	CG062_HUMAN	N	198	ENSP00000297203:D198N	ENSP00000297203:D198N	D	-	1	0	C7orf62	88261601	0.988000	0.35896	0.903000	0.35520	0.410000	0.31052	2.402000	0.44521	1.509000	0.48786	-0.136000	0.14681	GAT		0.423	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		T	88423665	C	T	88423665	3	4	170	1	0	0	0	0	1	0	0	0	9550	884	31	2	173	2	MGC26647	7	88423665	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	71043847	88423665	70714998	43	12090											
RELN	5649	broad.mit.edu	37	chr7	103205876	103205876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgccattgttcagagAatactggagctgtacactgt	9	13	10	9	0	1	1	1	0	0	1	2	3	2	2	2	1	4	3	2	1	3	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103205876A>G	ENST00000428762.1	-	34	5218	c.5059T>C	c.(5059-5061)Tct>Cct	p.S1687P	RELN_ENST00000424685.2_Missense_Mutation_p.S1687P|RELN_ENST00000343529.5_Missense_Mutation_p.S1687P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1687					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTCAGAGAATACTGGAGC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.S1687Y(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5059-5061)Tct>Cct		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							118	103	108					7																	103205876		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205876A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5059T>C	7.37:g.103205876A>G	ENSP00000392423:p.Ser1687Pro					RELN_uc022ajq.1_Missense_Mutation_p.S1687P|RELN_uc010liz.3_Missense_Mutation_p.S1687P	p.S1687P	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	5219	-			1687					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5059T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.777646	0.90195	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.53640	0.61;0.61;0.61	6.02	6.02	0.97574	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.84585	2.705	0.58432	D	0.999999	D;D	0.89917	1.0;0.99	D;D	0.97110	1.0;0.972	T	0.77667	-0.2502	10	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1687;1687	P78509-2;P78509	.;RELN_HUMAN	P	1687	ENSP00000392423:S1687P;ENSP00000345694:S1687P;ENSP00000388446:S1687P	ENSP00000345694:S1687P	S	-	1	0	RELN	102993112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.645000	0.91049	2.311000	0.77944	0.533000	0.62120	TCT		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103205876	A	G	103205876	3	3	170	1	0	0	0	0	1	0	0	0	13220	246	9	4	5451	4	RELN	7	103205876	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	14782211	103205876	55932787	44	12091											
RELN	5649	broad.mit.edu	37	chr7	103338351	103338351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcctgtgtccactgggtcGagactatcttctaaaacgac	9	12	9	11	2	2	1	0	0	2	1	4	3	3	1	2	1	2	0	2	1	3	4	rs142192165		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103338351G>A	ENST00000428762.1	-	10	1251	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_ENST00000424685.2_Silent_p.L364L|RELN_ENST00000343529.5_Silent_p.L364L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	364					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACTGGGTCGAGACTATCTT	0.418																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.S363G(1)|p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1090-1092)ctC>ctT		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	139	129	132		1092,1092	-12.1	0.2	7	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	364/3461,364/3459	103338351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338351G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1092C>T	7.37:g.103338351G>A						RELN_uc022ajq.1_Silent_p.L364L|RELN_uc010liz.3_Silent_p.L364L	p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	9	1252	-			364					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1092C>T	CCDS47680.1																																																																																				0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103338351	G	A	103338351	2	1	170	1	0	0	0	0	0	0	0	1	13220	1045	37	2		2	RELN	7	103338351	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	132475	103338351	55800312	45	12092											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825899	146825899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacattactgatcttgccAgaaggaagaaattagagccc	15	9	8	9	0	2	4	1	1	1	3	2	5	2	5	2	1	4	0	2	1	6	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:146825899A>G	ENST00000361727.3	+	7	1570	c.1054A>G	c.(1054-1056)Aga>Gga	p.R352G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	352	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGATCTTGCCAGAAGGAAGAA	0.388										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1054-1056)Aga>Gga		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							108	112	111					7																	146825899		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825899A>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1054A>G	7.37:g.146825899A>G	ENSP00000354778:p.Arg352Gly	HNSCC(39;0.1)					p.R352G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1570	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	352			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1054A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941471	0.53079	.	.	ENSG00000174469	ENST00000361727	D	0.89485	-2.52	5.64	3.23	0.37069	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.084718	0.43110	D	0.000614	D	0.83982	0.5372	L	0.46741	1.465	0.80722	D	1	P	0.38395	0.629	B	0.35114	0.196	T	0.81086	-0.1092	10	0.62326	D	0.03	.	11.6073	0.51039	0.6857:0.3143:0.0:0.0	.	352	Q9UHC6	CNTP2_HUMAN	G	352	ENSP00000354778:R352G	ENSP00000354778:R352G	R	+	1	2	CNTNAP2	146456832	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.902000	0.56310	0.409000	0.25649	0.533000	0.62120	AGA		0.388	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			G	146825899	A	G	146825899	3	3	170	1	0	0	0	0	1	0	0	0	3647	180	7	4	1080	4	CNTNAP2	7	146825899	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	43487548	146825899	12312764	46	12093											
REPIN1	29803	broad.mit.edu	37	chr7	150069842	150069842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtccaacctggtgtcGcaccggcgcatccacacggg	9	5	12	15	4	0	1	0	0	0	1	3	1	2	1	4	3	1	2	4	3	2	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:150069842G>A	ENST00000425389.2	+	1	1590	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	REPIN1_ENST00000540729.1_Silent_p.S504S|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.S504S|REPIN1_ENST00000489432.2_Silent_p.S561S|REPIN1_ENST00000397281.2_Silent_p.S504S	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	504					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667																																						uc022apt.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14								Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).							43	50	48					7																	150069842		2203	4299	6502	SO:0001819	synonymous_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069842G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1512G>A	7.37:g.150069842G>A						REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpq.1_Silent_p.S504S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S				Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		0		-	Ovarian(565;0.183)|Melanoma(164;0.226)							C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37		CCDS43677.1																																																																																				0.667	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150069842	G	A	150069842	2	1	170	1	0	0	0	0	0	0	0	1	13227	1074	38	1		1	REPIN1	7	150069842	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	3243943	150069842	9068821	47	12094											
TEX15	56154	broad.mit.edu	37	chr8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacattcattaacctgtcGtttgtactttaagaatacat	12	17	4	8	1	2	1	2	0	0	1	3	1	2	1	1	0	3	2	1	0	5	8			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:30701172G>A	ENST00000256246.2	-	1	5436	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1788					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(5362-5364)Cga>Tga		Homo sapiens testis expressed 15 (TEX15), mRNA.							75	68	71					8																	30701172		2203	4300	6503	SO:0001587	stop_gained	56154							g.chr8:30701172G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5362C>T	8.37:g.30701172G>A	ENSP00000256246:p.Arg1788*						p.R1788*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	5362	-			1788						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.5362C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	45	11.274584	0.99540	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.27	4.36	0.52297	.	0.000000	0.39909	N	0.001224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1394	0.53989	0.0:0.0:0.6965:0.3034	.	.	.	.	X	1788	.	ENSP00000256246:R1788X	R	-	1	2	TEX15	30820714	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.785000	0.47782	2.448000	0.82819	0.650000	0.86243	CGA		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30701172	G	A	30701172	4	1	170	1	0	0	0	0	0	1	0	0	15776	1153	40	1	3023	1	TEX15	8	30701172	Nonsense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		30701172	115662850	48	12095											
DPY19L4	286148	broad.mit.edu	37	chr8	95792643	95792643	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcagcttatggaaagaGgtaaaaaaattagattttta	16	13	9	3	0	1	2	1	0	1	2	2	3	1	3	0	3	1	2	0	3	8	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:95792643G>A	ENST00000414645.2	+	15	1731	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	544						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATGGAAAGAGGtaaaaaaat	0.299																																						uc003ygx.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.e15+1		Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.							40	40	40					8																	95792643		2198	4292	6490	SO:0001630	splice_region_variant	286148					integral to membrane		g.chr8:95792643G>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1632+1G>A	8.37:g.95792643G>A							p.E544_splice	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			15	1756	+	Breast(36;3.85e-06)		544					Q6ZW32|Q6ZW42|Q7Z329	Silent	SNP	ENST00000414645.2	37	c.1632_splice	CCDS34924.1																																																																																				0.299	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	Silent	A	95792643	G	A	95792643	5	1	170	1	0	0	0	0	0	0	1	0	4743	1014	35	3	1690	3	DPY19L4	8	95792643	Splice_Site	SNP	G	TCGA-19-5959-01A-11D-1696-08	65091471	95792643	50571379	49	12096											
HAS2	3037	broad.mit.edu	37	chr8	122641443	122641443	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggcaccatacagtccAaaagagaaatagtaattatc	21	7	6	7	0	0	1	0	0	0	1	2	2	1	1	2	1	1	2	2	1	9	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:122641443A>G	ENST00000303924.4	-	2	675	c.138T>C	c.(136-138)ttT>ttC	p.F46F		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	46					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATACAGTCCAAAAGAGAAAT	0.418																																						uc003yph.2																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(136-138)ttT>ttC		Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.							118	117	117					8																	122641443		2203	4300	6503	SO:0001819	synonymous_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641443A>G	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.138T>C	8.37:g.122641443A>G							p.F46F	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	676	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		46					Q32MM3	Silent	SNP	ENST00000303924.4	37	c.138T>C	CCDS6335.1																																																																																				0.418	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		G	122641443	A	G	122641443	2	3	170	1	0	0	0	0	0	0	0	1	6962	127	5	4		4	HAS2	8	122641443	Silent	SNP	A	TCGA-19-5959-01A-11D-1696-08	26848800	122641443	23722579	50	12097											
FAM75C1	441452	broad.mit.edu	37	chr9	90536465	90536465	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaaggttctgggggCgacctctgaggagtcagaaa	10	6	16	9	1	3	2	1	1	2	1	3	5	3	4	2	5	0	1	2	5	2	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:90536465C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTTCTGGGGGCGACCTCTGAG	0.512																																						uc010mqi.3																			0											c.(1642-1644)gCg>gTg		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							16	19	18					9																	90536465		692	1591	2283			441452							g.chr9:90536465C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536465C>T						FAM75C1_uc004apq.4_Missense_Mutation_p.A531V	p.A548V	NM_001145124	NP_001138596					3	1672	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1643C>T																																																																																					0.512	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		T	90536465	C	T	90536465	1	4	170	0	1	0	0	0	0	0	0	0	5623	768	27	1		1	FAM75C1	9	90536465	RNA	SNP	C	TCGA-19-5959-01A-11D-1696-08		90536465	50676966	51	12098											
CTSL2	1515	broad.mit.edu	37	chr9	99799549	99799549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgattcttcactggCgtcacgtagcctttctttct	5	16	6	14	2	6	1	3	1	3	0	6	1	6	1	2	1	1	1	2	1	1	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:99799549C>T	ENST00000259470.5	-	4	630	c.381G>A	c.(379-381)acG>acA	p.T127T	CTSV_ENST00000538255.1_Silent_p.T127T|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	127					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										TCTTCACTGGCGTCACGTAGC	0.483																																						uc010msi.3																			0				endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19						c.(379-381)acG>acA		Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.							67	60	62					9																	99799549		2203	4300	6503	SO:0001819	synonymous_variant	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99799549C>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.381G>A	9.37:g.99799549C>T						CTSL2_uc004awt.3_Silent_p.T127T|CTSL2_uc004awu.3_Silent_p.T72T|CTSL2_uc010msj.2_Silent_p.T72T|CTSL2_uc010msk.3_Silent_p.T72T	p.T127T	NM_001201575	NP_001188504	O60911	CATL2_HUMAN			3	588	-		Acute lymphoblastic leukemia(62;0.0559)	127					O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.381G>A	CCDS6723.1																																																																																				0.483	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		T	99799549	C	T	99799549	2	4	170	1	0	0	0	0	0	0	0	1	4039	755	27	1		1	CTSL2	9	99799549	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	9263084	99799549	41413882	52	12099											
C9orf98	158067	broad.mit.edu	37	chr9	135702390	135702390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctctggcaccatgagaCggttctggatttcagattcg	7	13	11	10	2	3	2	1	1	2	2	5	4	4	3	2	3	0	2	2	3	0	3	rs375829164		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:135702390C>T	ENST00000298545.3	-	8	1129	c.608G>A	c.(607-609)cGt>cAt	p.R203H	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	203	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.R203H(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CACCATGAGACGGTTCTGGAT	0.517																																						uc004cbu.1																			2	Substitution - Missense(2)	p.R203H(3)	NS(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(607-609)cGt>cAt		Homo sapiens adenylate kinase 8 (AK8), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	207	195	199		608	5.3	1	9		199	0,8600		0,0,4300	no	missense	AK8	NM_152572.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	203/480	135702390	1,13005	2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702390C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.608G>A	9.37:g.135702390C>T	ENSP00000298545:p.Arg203His					AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR	p.R203H	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN			7	1164	-			203					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.608G>A	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393142	0.62066	2.27E-4	0.0	ENSG00000165695	ENST00000298545	T	0.70516	-0.49	5.34	5.34	0.76211	Adenylate kinase, active site lid domain (1);	0.120541	0.56097	D	0.000027	D	0.86514	0.5951	M	0.92507	3.315	0.35272	D	0.780516	D	0.89917	1.0	D	0.85130	0.997	D	0.91822	0.5468	10	0.72032	D	0.01	-15.9543	11.4936	0.50396	0.0:0.9181:0.0:0.0819	.	203	Q96MA6	KAD8_HUMAN	H	203	ENSP00000298545:R203H	ENSP00000298545:R203H	R	-	2	0	AK8	134692211	0.998000	0.40836	0.957000	0.39632	0.417000	0.31264	4.027000	0.57239	2.497000	0.84241	0.455000	0.32223	CGT		0.517	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		T	135702390	C	T	135702390	3	4	170	1	0	0	0	0	1	0	0	0	2509	536	19	1	855	1	C9orf98	9	135702390	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	35902841	135702390	5511041	53	12100											
CACNA1B	774	broad.mit.edu	37	chr9	140881238	140881238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttttcctcaggttcAacttccaggatgagactccc	7	14	7	13	0	2	1	2	1	0	1	6	3	6	2	4	2	1	2	4	2	1	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:140881238A>G	ENST00000371372.1	+	15	2051	c.1906A>G	c.(1906-1908)Aac>Gac	p.N636D	CACNA1B_ENST00000371355.4_Missense_Mutation_p.N637D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N637D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N636D|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N636D	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	636					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCAGGTTCAACTTCCAGGA	0.602																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1906-1908)Aac>Gac		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						182	197	192					9																	140881238		2121	4234	6355	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140881238A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1906A>G	9.37:g.140881238A>G	ENSP00000360423:p.Asn636Asp					CACNA1B_uc022bqn.1_Missense_Mutation_p.N636D|CACNA1B_uc011mfd.2_Missense_Mutation_p.N238D	p.N636D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	14	2051	+	all_cancers(76;0.166)		636					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1906A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673801	0.47781	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.02	4.02	0.46733	.	0.212304	0.48767	D	0.000176	D	0.97315	0.9122	L	0.60957	1.885	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.50860	0.559;0.652	D	0.96431	0.9319	10	0.46703	T	0.11	.	10.2339	0.43270	0.8337:0.1663:0.0:0.0	.	636;636	B1AQK4;B1AQK6	.;.	D	636;636;636;637;637	ENSP00000360423:N636D;ENSP00000277551:N636D;ENSP00000360414:N636D;ENSP00000360408:N637D;ENSP00000360406:N637D	ENSP00000277551:N636D	N	+	1	0	CACNA1B	140001059	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.708000	0.68377	1.756000	0.51951	0.368000	0.22195	AAC		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		G	140881238	A	G	140881238	3	3	170	1	0	0	0	0	1	0	0	0	2539	130	5	4	1964	4	CACNA1B	9	140881238	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	5178848	140881238	332193	54	12101											
C10orf53	282966	broad.mit.edu	37	chr10	50901822	50901822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctttccttcccagctGtgttggccatagatggacat	6	16	8	11	0	1	1	0	0	1	1	3	2	3	2	3	2	1	2	3	2	1	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:50901822G>T	ENST00000374111.3	+	2	112	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	C10orf53_ENST00000535836.1_Missense_Mutation_p.V34L|C10orf53_ENST00000374112.3_Missense_Mutation_p.V34L|CHAT_ENST00000455728.2_Silent_p.L542L|C10orf53_ENST00000374113.3_Missense_Mutation_p.V34L	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	34										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTTCCCAGCTGTGTTGGCCAT	0.468																																						uc001jid.1																			0				endometrium(1)|lung(6)	7						c.(100-102)Gtg>Ttg		Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.							144	131	135					10																	50901822		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50901822G>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.100G>T	10.37:g.50901822G>T	ENSP00000363225:p.Val34Leu					CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jib.3_Missense_Mutation_p.V34L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L	p.V34L	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN			1	160	+		all_neural(218;0.107)	34					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374111.3	37	c.100G>T	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976030	0.53720	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.44	3.57	0.40892	.	0.275572	0.22565	U	0.058401	T	0.47857	0.1468	L	0.52011	1.625	0.37420	D	0.913615	P;P;B	0.50528	0.936;0.465;0.253	P;B;B	0.46320	0.512;0.243;0.073	T	0.49744	-0.8907	9	0.19147	T	0.46	-19.8463	10.7956	0.46459	0.1573:0.0:0.8427:0.0	.	34;34;34	B9ZVK6;Q8N6V4-2;Q8N6V4	.;.;CJ053_HUMAN	L	34	.	ENSP00000363225:V34L	V	+	1	0	C10orf53	50571828	1.000000	0.71417	0.955000	0.39395	0.284000	0.27059	2.272000	0.43373	1.438000	0.47492	0.655000	0.94253	GTG		0.468	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		T	50901822	G	T	50901822	3	4	170	1	0	0	0	0	1	0	0	0	1606	1377	48	5	106	5	C10orf53	10	50901822	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		50901822	84632925	55	12102											
STOX1	219736	broad.mit.edu	37	chr10	70644150	70644150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattacaaatacaaccaccCaggaaaataagagaatgctg	19	7	6	9	0	1	1	1	0	0	1	1	3	1	2	2	1	4	1	2	1	8	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:70644150C>T	ENST00000298596.6	+	3	681	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	STOX1_ENST00000399165.4_Nonsense_Mutation_p.Q200*|STOX1_ENST00000399169.4_Nonsense_Mutation_p.Q200*|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Nonsense_Mutation_p.Q90*	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	200						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TACAACCACCCAGGAAAATAA	0.443																																						uc001jos.2																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(598-600)Cag>Tag		Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.							87	84	85					10																	70644150		1907	4120	6027	SO:0001587	stop_gained	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644150C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.598C>T	10.37:g.70644150C>T	ENSP00000298596:p.Gln200*					STOX1_uc001joq.3_Nonsense_Mutation_p.Q90*|STOX1_uc001jor.3_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Nonsense_Mutation_p.Q90*	p.Q200*	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN			2	685	+			200					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Nonsense_Mutation	SNP	ENST00000298596.6	37	c.598C>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066231	0.55539	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000421961	.	.	.	5.58	2.57	0.30868	.	0.508313	0.17290	U	0.179668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	10.8655	0.46853	0.4354:0.446:0.1186:0.0	.	.	.	.	X	200;200;200;90	.	ENSP00000298596:Q200X	Q	+	1	0	STOX1	70314156	0.001000	0.12720	0.347000	0.25668	0.762000	0.43233	0.593000	0.23999	0.686000	0.31488	0.491000	0.48974	CAG		0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		T	70644150	C	T	70644150	4	4	170	1	0	0	0	0	0	1	0	0	15318	595	21	3	608	3	STOX1	10	70644150	Nonsense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	19742328	70644150	64890597	56	12103											
PTEN	5728	broad.mit.edu	37	chr10	89692810	89692810	+	Frame_Shift_Del	DEL	A	A	-																															gaccataacccaccacagctAgaacttatcaaacccttttg																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:89692810delA	ENST00000371953.3	+	5	1651	c.294delA	c.(292-294)ctafs	p.L98fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	98	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACCACAGCTAGAACTTATCA	0.358		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(292-294)ctafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							111	103	105					10																	89692810		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692810delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.294delA	10.37:g.89692810delA	ENSP00000361021:p.Leu98fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L98fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1326	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	98			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.294delA	CCDS31238.1																																																																																				0.358	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89692810	A	-	89692810	7	5	170	1	0	1	0	1	0	0	0	0	12738	407	15	0	312	0	PTEN	10	89692810	Frame_Shift_Del	DEL	A	TCGA-19-5959-01A-11D-1696-08	19048660	89692810	45841937	57	12104											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643251	1643251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccccacagccagagcCacagcccccacagccggagc	11	0	9	21	1	0	1	0	0	0	1	0	2	0	2	7	1	6	0	7	1	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:1643251C>T	ENST00000399682.1	-	1	117	c.73G>A	c.(73-75)Ggc>Agc	p.G25S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagccagagccacagccccca	0.692																																						uc009ycy.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(31-33)Ggc>Agc		Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.							4	8	7					11																	1643251		643	1512	2155	SO:0001583	missense	387267					keratin filament		g.chr11:1643251C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.73G>A	11.37:g.1643251C>T	ENSP00000382590:p.Gly25Ser					MOB2_uc001ltq.2_Intron	p.G11S	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	0	118	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	105						Missense_Mutation	SNP	ENST00000399682.1	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	-	0.031	-1.332015	0.01298	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01139	5.28	2.15	1.22	0.21188	.	.	.	.	.	T	0.01730	0.0055	M	0.73598	2.24	0.20196	N	0.999929	B	0.31351	0.32	B	0.32090	0.14	T	0.43925	-0.9361	9	0.13470	T	0.59	.	7.1462	0.25585	0.0:0.8463:0.0:0.1537	.	25	Q6L8H1	KRA54_HUMAN	S	25	ENSP00000382590:G25S	ENSP00000331603:G25S	G	-	1	0	KRTAP5-4	1599827	0.004000	0.15560	0.472000	0.27241	0.011000	0.07611	0.089000	0.15002	0.466000	0.27193	-0.498000	0.04607	GGC		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		T	1643251	C	T	1643251	3	4	170	1	0	0	0	0	1	0	0	0	8563	594	21	3	617	3	KRTAP5-4	11	1643251	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		1643251	133363265	58	12105											
SLC6A5	9152	broad.mit.edu	37	chr11	20636272	20636272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacagatcaagaactcgActttctgcatgaccgcttat	14	11	6	10	2	2	3	1	1	1	2	3	4	2	3	1	0	3	2	1	0	5	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:20636272A>T	ENST00000525748.1	+	6	1306	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	345					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGAACTCGACTTTCTGCAT	0.403																																						uc001mqd.3																			0		p.S344S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1033-1035)Act>Tct		Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	Glycine(DB00145)						178	160	166					11																	20636272		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20636272A>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1033A>T	11.37:g.20636272A>T	ENSP00000434364:p.Thr345Ser					SLC6A5_uc009yic.3_Missense_Mutation_p.T110S	p.T345S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			5	1306	+			345					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1033A>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310979	0.60414	.	.	ENSG00000165970	ENST00000525748	T	0.72942	-0.7	5.71	5.71	0.89125	.	1.493900	0.03576	N	0.229415	T	0.66327	0.2778	L	0.28556	0.865	0.80722	D	1	B	0.16166	0.016	B	0.24006	0.05	T	0.08411	-1.0723	10	0.15499	T	0.54	.	15.65	0.77084	1.0:0.0:0.0:0.0	.	345	Q9Y345	SC6A5_HUMAN	S	345	ENSP00000434364:T345S	ENSP00000434364:T345S	T	+	1	0	SLC6A5	20592848	1.000000	0.71417	0.849000	0.33467	0.966000	0.64601	5.199000	0.65152	2.178000	0.69098	0.482000	0.46254	ACT		0.403	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		T	20636272	A	T	20636272	3	4	170	1	0	0	0	0	1	0	0	0	14687	275	10	5	1055	5	SLC6A5	11	20636272	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	18993021	20636272	114370244	59	12106											
OR8H3	390152	broad.mit.edu	37	chr11	55890213	55890213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaatggcctatgatcGctatgcagcgatctgcagtc	8	11	9	13	2	2	1	1	1	1	0	5	2	3	1	2	1	3	3	2	1	3	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:55890213G>A	ENST00000313472.3	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTATGATCGCTATGCAGCG	0.468																																						uc001nii.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.							219	205	210					11																	55890213		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890213G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.365G>A	11.37:g.55890213G>A	ENSP00000323928:p.Arg122His						p.R122H	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			0	365	+	Esophageal squamous(21;0.00693)		122					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.365G>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844565	0.32606	.	.	ENSG00000181761	ENST00000313472	T	0.77489	-1.1	3.44	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.249486	0.28889	N	0.013810	T	0.75481	0.3855	M	0.86343	2.81	0.30982	N	0.722421	P	0.41345	0.746	B	0.34138	0.176	T	0.76934	-0.2775	10	0.72032	D	0.01	.	8.7093	0.34374	0.1942:0.0:0.8058:0.0	.	122	Q8N146	OR8H3_HUMAN	H	122	ENSP00000323928:R122H	ENSP00000323928:R122H	R	+	2	0	OR8H3	55646789	0.988000	0.35896	0.709000	0.30452	0.374000	0.29953	6.851000	0.75425	0.544000	0.28883	0.173000	0.16961	CGC		0.468	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55890213	G	A	55890213	3	1	170	1	0	0	0	0	1	0	0	0	11239	1087	38	1	367	1	OR8H3	11	55890213	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	35253941	55890213	79116303	60	12107											
OR5A1	219982	broad.mit.edu	37	chr11	59210760	59210760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcctgggcatctatcttaCcaccctggcctggaacctgg	6	11	9	15	0	2	0	0	0	2	0	3	1	3	1	5	4	2	1	5	4	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:59210760C>T	ENST00000302030.2	+	1	144	c.119C>T	c.(118-120)aCc>aTc	p.T40I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502																																						uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(118-120)aCc>aTc		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							135	128	130					11																	59210760		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210760C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.119C>T	11.37:g.59210760C>T	ENSP00000303096:p.Thr40Ile						p.T40I	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	119	+			40					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.119C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.579008	0.00129	.	.	ENSG00000172320	ENST00000302030	T	0.00397	7.57	6.16	2.61	0.31194	.	0.418143	0.20218	N	0.096749	T	0.00144	0.0004	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.02654	T	1	-3.4997	10.908	0.47092	0.0:0.1483:0.0:0.8517	.	40	Q8NGJ0	OR5A1_HUMAN	I	40	ENSP00000303096:T40I	ENSP00000303096:T40I	T	+	2	0	OR5A1	58967336	0.019000	0.18553	0.000000	0.03702	0.008000	0.06430	2.107000	0.41844	0.194000	0.20326	-1.206000	0.01644	ACC		0.502	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59210760	C	T	59210760	3	4	170	1	0	0	0	0	1	0	0	0	11139	507	18	3	121	3	OR5A1	11	59210760	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	3320547	59210760	75795756	61	12108											
C11orf66	220004	broad.mit.edu	37	chr11	61249365	61249365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggaccccctgaaattctaCgccaccagctactgcaccgc	10	6	7	18	3	1	1	0	1	1	0	1	2	1	2	5	1	4	2	5	1	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:61249365C>T	ENST00000338608.2	+	2	209	c.84C>T	c.(82-84)taC>taT	p.Y28Y	RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Silent_p.Y28Y|RP11-286N22.8_ENST00000543044.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	28							phosphatase binding (GO:0019902)										TGAAATTCTACGCCACCAGCT	0.622																																						uc001nru.2																			0											c.(82-84)taC>taT		Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							37	37	37					11																	61249365		2202	4299	6501	SO:0001819	synonymous_variant	220004							g.chr11:61249365C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.84C>T	11.37:g.61249365C>T						PPP1R32_uc009ynq.2_Silent_p.Y28Y	p.Y28Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			1	216	+			28					Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	c.84C>T	CCDS8008.1																																																																																				0.622	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		T	61249365	C	T	61249365	2	4	170	1	0	0	0	0	0	0	0	1	1656	547	19	1		1	C11orf66	11	61249365	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	2038605	61249365	73757151	62	12109											
OVOL1	5017	broad.mit.edu	37	chr11	65561705	65561705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagaccatggcttcctgCgcaccaagatgaaggtaatg	12	7	12	10	1	0	3	0	1	0	2	1	4	1	3	3	2	1	4	3	2	3	2	rs547964049		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:65561705C>T	ENST00000335987.3	+	2	656	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	OVOL1_ENST00000532448.1_Missense_Mutation_p.R40C|RP11-770G2.5_ENST00000531155.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	102					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		TGGCTTCCTGCGCACCAAGAT	0.612																																						uc001ofp.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(304-306)Cgc>Tgc		Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.							64	63	63					11																	65561705		2201	4297	6498	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65561705C>T	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.304C>T	11.37:g.65561705C>T	ENSP00000337862:p.Arg102Cys					OVOL1_uc001ofq.3_Missense_Mutation_p.R40C	p.R102C	NM_004561	NP_004552	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	1	644	+			102					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.304C>T	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400277	0.42613	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.11277	2.91;2.79	4.95	4.02	0.46733	.	0.387780	0.24245	N	0.040223	T	0.05868	0.0153	N	0.08118	0	0.51482	D	0.99992	B	0.15473	0.013	B	0.08055	0.003	T	0.32666	-0.9898	10	0.38643	T	0.18	-29.3658	10.5526	0.45099	0.193:0.807:0.0:0.0	.	102	O14753	OVOL1_HUMAN	C	102;40	ENSP00000337862:R102C;ENSP00000434220:R40C	ENSP00000337862:R102C	R	+	1	0	OVOL1	65318281	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	0.894000	0.28350	1.040000	0.40099	0.655000	0.94253	CGC		0.612	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		T	65561705	C	T	65561705	3	4	170	1	0	0	0	0	1	0	0	0	11326	768	27	1	310	1	OVOL1	11	65561705	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	4312340	65561705	69444811	63	12110											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249153	71249153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccggctgtgggggctgcGgctctggctgtgggggatgt	1	10	21	9	2	1	0	0	0	1	0	2	1	2	1	1	7	1	5	1	7	0	0	rs534156781	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:71249153G>A	ENST00000398534.3	+	1	83	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	18						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGGGGGCTGCGGCTCTGGCTG	0.652													g|||	2	0.000399361	0	0	5008	,	,		11178	0		0	False		,,,				2504	0.002					uc001oqr.1																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(52-54)Ggc>Agc		Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.							56	77	70					11																	71249153		2197	4287	6484	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249153G>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.52G>A	11.37:g.71249153G>A	ENSP00000420723:p.Gly18Ser						p.G18S	NM_021046	NP_066384	O75690	KRA58_HUMAN			0	83	+			18					Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.52G>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.315924	0.00235	.	.	ENSG00000241233	ENST00000398534	T	0.01599	4.74	1.47	0.521	0.17046	.	.	.	.	.	T	0.01421	0.0046	L	0.46885	1.475	0.09310	N	1	B	0.27932	0.194	B	0.26693	0.072	T	0.46925	-0.9156	9	0.05351	T	0.99	.	2.265	0.04077	0.1978:0.0:0.5053:0.2969	.	18	O75690	KRA58_HUMAN	S	18	ENSP00000420723:G18S	ENSP00000420723:G18S	G	+	1	0	KRTAP5-8	70926801	0.192000	0.23301	0.897000	0.35233	0.043000	0.13939	0.632000	0.24583	0.185000	0.20105	-0.279000	0.10071	GGC		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		A	71249153	G	A	71249153	3	1	170	1	0	0	0	0	1	0	0	0	8567	1116	39	2	54	2	KRTAP5-8	11	71249153	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5687448	71249153	63757363	64	12111											
ARRB1	408	broad.mit.edu	37	chr11	74979943	74979943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctcaccttcccgatgCgggggttcctctttgggctt	2	15	11	13	2	3	0	1	0	2	0	5	1	5	0	3	3	2	3	3	3	0	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:74979943C>T	ENST00000420843.2	-	14	1180	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	ARRB1_ENST00000360025.3_Silent_p.P353P|ARRB1_ENST00000393505.4_Silent_p.P361P	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	361	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTTCCCGATGCGGGGGTTCCT	0.622																																						uc001owe.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1081-1083)ccG>ccA		Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.							115	104	107					11																	74979943		2200	4293	6493	SO:0001819	synonymous_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74979943C>T	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1083G>A	11.37:g.74979943C>T						ARRB1_uc001owf.2_Silent_p.P353P	p.P361P	NM_004041	NP_004032	P49407	ARRB1_HUMAN			13	1307	-			361			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	c.1083G>A	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	c	4.310	0.056889	0.08339	.	.	ENSG00000137486	ENST00000532447	.	.	.	4.05	-4.73	0.03259	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.38433	D	0.946483	.	.	.	.	.	.	T	0.38972	-0.9636	4	.	.	.	-3.507	1.0533	0.01585	0.287:0.3444:0.1463:0.2223	.	.	.	.	T	178	.	.	A	-	1	0	ARRB1	74657591	0.933000	0.31639	0.959000	0.39883	0.641000	0.38312	-0.058000	0.11750	-0.759000	0.04684	-1.318000	0.01297	GCA		0.622	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		T	74979943	C	T	74979943	2	4	170	1	0	0	0	0	0	0	0	1	980	755	27	1		1	ARRB1	11	74979943	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	3730790	74979943	60026573	65	12112											
GRIN2B	2904	broad.mit.edu	37	chr12	13716218	13716218	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaggcttacgctgcgcggGgccagggcggcttcttcctt	3	11	14	13	4	2	0	1	0	1	0	3	0	3	0	2	5	2	3	2	5	1	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:13716218G>C	ENST00000609686.1	-	13	4163	c.3954C>G	c.(3952-3954)gcC>gcG	p.A1318A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1318					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTGCGCGGGGCCAGGGCGG	0.587																																						uc001rbt.2																			0		p.L1317M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3952-3954)gcC>gcG		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						67	76	73					12																	13716218		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716218G>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3954C>G	12.37:g.13716218G>C							p.A1318A	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	4133	-			1318					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3954C>G	CCDS8662.1																																																																																				0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			C	13716218	G	C	13716218	2	2	170	1	0	0	0	0	0	0	0	1	6780	1219	43	5		5	GRIN2B	12	13716218	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		13716218	120135677	66	12113											
OAS1	4938	broad.mit.edu	37	chr12	113346549	113346549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctggggcaacccccGtgcgctcagcttcgtactga	6	8	11	16	4	1	1	1	1	0	0	3	1	2	1	3	2	4	5	3	2	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:113346549G>A	ENST00000202917.5	+	2	652	c.389G>A	c.(388-390)cGt>cAt	p.R130H	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.R130H|OAS1_ENST00000452357.2_Missense_Mutation_p.R130H|OAS1_ENST00000553185.1_Missense_Mutation_p.R130H|OAS1_ENST00000551241.1_Missense_Mutation_p.R130H	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	130					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.R130L(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAACCCCCGTGCGCTCAGC	0.577																																						uc001tuc.3																			3	Substitution - Missense(3)	p.R130L(4)	lung(3)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						c.(388-390)cGt>cAt		Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.							81	76	78					12																	113346549		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113346549G>A	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.389G>A	12.37:g.113346549G>A	ENSP00000202917:p.Arg130His					OAS1_uc010syn.2_Missense_Mutation_p.R129H|OAS1_uc010syo.2_Missense_Mutation_p.R129H|OAS1_uc001tub.3_Missense_Mutation_p.R130H|OAS1_uc001tud.3_Missense_Mutation_p.R130H|OAS1_uc009zwf.3_Missense_Mutation_p.R129H	p.R130H	NM_001032409	NP_001027581	P00973	OAS1_HUMAN			1	495	+			130			Necessary for binding to dsRNA.		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.389G>A	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687975	0.68271	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	4.31	4.31	0.51392	.	0.563411	0.15923	N	0.238042	T	0.40171	0.1106	M	0.91510	3.215	0.09310	N	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.974;0.99;0.987;0.994;0.99;0.982	T	0.29941	-0.9995	10	0.87932	D	0	-25.987	12.456	0.55704	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	H	130;130;130;130;130;130;130;126	ENSP00000202917:R130H;ENSP00000388001:R130H;ENSP00000415721:R130H;ENSP00000448790:R130H;ENSP00000448001:R130H;ENSP00000448348:R126H	ENSP00000202917:R130H	R	+	2	0	OAS1	111830932	0.236000	0.23804	0.196000	0.23383	0.007000	0.05969	3.393000	0.52544	2.420000	0.82092	0.455000	0.32223	CGT		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			A	113346549	G	A	113346549	3	1	170	1	0	0	0	0	1	0	0	0	10799	1145	40	1	395	1	OAS1	12	113346549	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	99630331	113346549	20505346	67	12114											
OR4K15	81127	broad.mit.edu	37	chr14	20443959	20443959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacctgtcatttatagaCgtatgtgttgcctcttttgc	8	16	8	9	1	2	1	1	0	1	1	2	1	2	1	2	0	3	3	2	0	4	7			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:20443959C>T	ENST00000305051.5	+	1	357	c.282C>T	c.(280-282)gaC>gaT	p.D94D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D94D(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATAGACGTATGTGTTG	0.453																																						uc010tkx.2																			2	Substitution - coding silent(2)	p.D94D(4)	lung(1)|prostate(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(280-282)gaC>gaT		Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.							107	119	115					14																	20443959		2203	4298	6501	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443959C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.282C>T	14.37:g.20443959C>T							p.D94D	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	282	+	all_cancers(95;0.00108)		94					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.282C>T	CCDS32026.1																																																																																				0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			T	20443959	C	T	20443959	2	4	170	1	0	0	0	0	0	0	0	1	11070	535	19	1		1	OR4K15	14	20443959	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08		20443959	86905581	68	12115											
FLJ10357	55701	broad.mit.edu	37	chr14	21543075	21543075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctcttagccgaggagggGacagtgccccactgagccct	7	6	15	13	1	1	1	0	1	1	0	1	4	1	3	4	4	3	1	4	4	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21543075G>T	ENST00000298694.4	+	3	1313	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.D396Y			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	396						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCGAGGAGGGGACAGTGCCCC	0.597																																						uc001vzp.3																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1186-1188)Gac>Tac		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.							89	77	81					14																	21543075		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21543075G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1186G>T	14.37:g.21543075G>T	ENSP00000298694:p.Asp396Tyr					ARHGEF40_uc001vzn.1_Missense_Mutation_p.D396Y|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	p.D396Y	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN			2	1215	+			396					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1186G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236412	0.58886	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02579	4.31;4.24	5.14	5.14	0.70334	.	0.356351	0.24165	N	0.040946	T	0.05777	0.0151	N	0.14661	0.345	0.36219	D	0.851873	D;D	0.61697	0.963;0.99	P;P	0.60473	0.521;0.875	T	0.50516	-0.8819	10	0.62326	D	0.03	.	14.456	0.67416	0.0:0.0:1.0:0.0	.	396;396	Q8TER5;G3V3N2	ARH40_HUMAN;.	Y	396	ENSP00000298694:D396Y;ENSP00000298693:D396Y	ENSP00000298693:D396Y	D	+	1	0	ARHGEF40	20612915	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	2.896000	0.48656	2.550000	0.86006	0.462000	0.41574	GAC		0.597	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			T	21543075	G	T	21543075	3	4	170	1	0	0	0	0	1	0	0	0	5926	1174	41	5	1196	5	FLJ10357	14	21543075	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	1099116	21543075	85806465	69	12116											
CHD8	57680	broad.mit.edu	37	chr14	21871175	21871175	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagacaatgaattcctttaCctgcaggtcattttgtggat	11	15	8	7	0	1	2	1	1	0	1	2	3	2	3	2	2	2	1	2	2	4	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21871175C>T	ENST00000557364.1	-	18	3978		c.e18+1		CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000399982.2_Splice_Site|CHD8_ENST00000555962.1_Splice_Site			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCCTTTACCTGCAGGTCA	0.403																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.e17+1		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							44	46	46					14																	21871175		2131	4266	6397	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871175C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3714+1G>A	14.37:g.21871175C>T						CHD8_uc001was.2_Splice_Site_p.Q959_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	p.Q1238_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	17	3779	-	all_cancers(95;0.00121)		1238			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP	ENST00000557364.1	37	c.3714_splice	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080931	0.76528	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000555935	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7127	0.88326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20941015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.711000	0.92665	0.655000	0.94253	.		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Intron	T	21871175	C	T	21871175	5	4	170	1	0	0	0	0	0	0	1	0	3331	521	18	3	4114	3	CHD8	14	21871175	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	328100	21871175	85478365	70	12117											
ACTN1	87	broad.mit.edu	37	chr14	69356891	69356891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggatggaggccttctgcCggaacttctctgccaggtgg	5	10	15	11	2	2	0	0	0	2	0	3	3	2	3	3	6	3	0	3	6	1	2	rs575011573	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:69356891C>T	ENST00000193403.6	-	11	1582	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	ACTN1_ENST00000394419.4_Missense_Mutation_p.R400Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.R400Q|ACTN1_ENST00000376839.3_Missense_Mutation_p.R335Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.R400Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	400	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCTTCTGCCGGAACTTCTC	0.647													c|||	2	0.000399361	0	0	5008	,	,		16477	0		0	False		,,,				2504	0.002					uc001xkl.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(1198-1200)cGg>cAg		Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.							76	60	66					14																	69356891		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69356891C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1199G>A	14.37:g.69356891C>T	ENSP00000193403:p.Arg400Gln					ACTN1_uc001xkk.3_5'Flank|ACTN1_uc010ttb.2_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.3_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.3_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	p.R400Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	10	1509	-			400			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1199G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071323	0.93950	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52266	1.64	0.80722	D	1	B;P;B;B	0.38978	0.452;0.652;0.225;0.141	B;B;B;B	0.34452	0.048;0.183;0.017;0.054	T	0.47898	-0.9081	10	0.45353	T	0.12	.	17.8487	0.88738	0.0:1.0:0.0:0.0	.	400;400;400;400	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	Q	400;400;400;335;400	ENSP00000193403:R400Q;ENSP00000377941:R400Q;ENSP00000414272:R400Q;ENSP00000366035:R335Q;ENSP00000439828:R400Q	ENSP00000193403:R400Q	R	-	2	0	ACTN1	68426644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.913000	0.69957	2.432000	0.82394	0.655000	0.94253	CGG		0.647	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		T	69356891	C	T	69356891	3	4	170	1	0	0	0	0	1	0	0	0	204	652	23	2	1593	2	ACTN1	14	69356891	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	47485716	69356891	37992649	71	12118											
ITGA11	22801	broad.mit.edu	37	chr15	68643617	68643617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgcatatcttgttacGttgtctctttcgctttgctg	4	17	8	12	3	2	0	0	0	2	0	4	0	2	0	2	0	2	5	2	0	2	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:68643617G>A	ENST00000315757.7	-	8	959	c.873C>T	c.(871-873)aaC>aaT	p.N291N	ITGA11_ENST00000423218.2_Silent_p.N291N|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	291	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ATCTTGTTACGTTGTCTCTTT	0.552																																						uc010bib.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(871-873)aaC>aaT		Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	Tirofiban(DB00775)						125	130	129					15																	68643617		2066	4198	6264	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68643617G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.873C>T	15.37:g.68643617G>A						ITGA11_uc002ari.3_Silent_p.N291N	p.N291N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			7	960	-			291			VWFA.		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.873C>T	CCDS45291.1																																																																																				0.552	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		A	68643617	G	A	68643617	2	1	170	1	0	0	0	0	0	0	0	1	7874	1136	40	1		1	ITGA11	15	68643617	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		68643617	33887775	72	12119											
CSPG4	1464	broad.mit.edu	37	chr15	75980091	75980091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcccgtcggacacctgCagctggatccagccacggtc	6	8	12	15	3	0	0	0	0	0	0	3	2	1	2	4	3	4	3	4	3	0	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:75980091C>T	ENST00000308508.5	-	3	3407	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1105	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGACACCTGCAGCTGGATCC	0.657																																						uc002baw.3																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3313-3315)ctG>ctA		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.							55	54	54					15																	75980091		2197	4290	6487	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980091C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3315G>A	15.37:g.75980091C>T							p.L1105L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			2	3408	-			1105			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.3315G>A	CCDS10284.1																																																																																				0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75980091	C	T	75980091	2	4	170	1	0	0	0	0	0	0	0	1	3960	697	25	3		3	CSPG4	15	75980091	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	7336474	75980091	26551301	73	12120											
C15orf27	123591	broad.mit.edu	37	chr15	76430102	76430102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctcccaacaagtagaCgaagaaaccaagagcattgc	17	6	7	11	1	2	3	1	0	1	3	3	4	2	3	2	0	4	2	2	0	6	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:76430102C>T	ENST00000388942.3	+	3	369	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	31					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AACAAGTAGACGAAGAAACCA	0.537																																						uc002bbq.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(91-93)gaC>gaT		Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.							124	132	129					15																	76430102		1984	4161	6145	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76430102C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.93C>T	15.37:g.76430102C>T						C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	p.D31D	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			2	248	+			31					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.93C>T	CCDS10289.2																																																																																				0.537	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		T	76430102	C	T	76430102	2	4	170	1	0	0	0	0	0	0	0	1	1788	535	19	1		1	C15orf27	15	76430102	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	450011	76430102	26101290	74	12121											
C15orf26	161502	broad.mit.edu	37	chr15	81429012	81429012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcccatctgaaagaCgaattagaggtaccctgtgg	12	10	10	9	1	2	3	1	1	1	2	3	4	3	3	2	2	1	1	2	2	4	3	rs371138907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:81429012C>T	ENST00000286732.4	+	3	398	c.315C>T	c.(313-315)gaC>gaT	p.D105D		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	105										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATCTGAAAGACGAATTAGAGG	0.448													C|||	1	0.000199681	0	0	5008	,	,		19821	0.001		0	False		,,,				2504	0					uc002bgb.3																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(313-315)gaC>gaT		Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.		C		0,4148		0,0,2074	123	126	125		315	-10.6	0	15		125	1,8421		0,1,4210	no	coding-synonymous	C15orf26	NM_173528.2		0,1,6284	TT,TC,CC		0.0119,0.0,0.0080		105/302	81429012	1,12569	2074	4211	6285	SO:0001819	synonymous_variant	161502							g.chr15:81429012C>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.315C>T	15.37:g.81429012C>T						C15orf26_uc010blp.1_Silent_p.D80D	p.D105D	NM_173528	NP_775799	Q6P656	CO026_HUMAN			2	342	+			105					Q8N906	Silent	SNP	ENST00000286732.4	37	c.315C>T	CCDS42068.1																																																																																				0.448	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		T	81429012	C	T	81429012	2	4	170	1	0	0	0	0	0	0	0	1	1787	535	19	1		1	C15orf26	15	81429012	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	4998910	81429012	21102380	75	12122											
HAPLN3	145864	broad.mit.edu	37	chr15	89430480	89430480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgttgtagaagggcagtCcgtaggagccgggcagcagg	9	5	18	9	3	0	1	0	0	0	1	1	2	1	2	3	4	3	6	3	4	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:89430480C>A	ENST00000359595.3	-	2	264	c.50G>T	c.(49-51)gGa>gTa	p.G17V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.G79V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	17					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GAAGGGCAGTCCGTAGGAGCC	0.642																																						uc002bnd.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(235-237)gGa>gTa		Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.							111	98	102					15																	89430480		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89430480C>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.50G>T	15.37:g.89430480C>A	ENSP00000352606:p.Gly17Val					HAPLN3_uc002bnc.3_Missense_Mutation_p.G17V|HAPLN3_uc002bne.3_Non-coding_Transcript	p.G79V	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			2	317	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		17			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.236G>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765093	0.31228	.	.	ENSG00000140511	ENST00000359595	T	0.05855	3.38	4.3	4.3	0.51218	.	0.315043	0.28262	N	0.015988	T	0.17280	0.0415	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;P	0.67725	0.953;0.878	T	0.00324	-1.1817	10	0.51188	T	0.08	-17.5989	9.5732	0.39440	0.0:0.8898:0.0:0.1102	.	17;17	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	17	ENSP00000352606:G17V	ENSP00000352606:G17V	G	-	2	0	HAPLN3	87231484	0.087000	0.21565	0.495000	0.27527	0.397000	0.30659	2.744000	0.47450	1.926000	0.55796	0.655000	0.94253	GGA		0.642	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		A	89430480	C	A	89430480	3	1	170	1	0	0	0	0	1	0	0	0	6956	855	30	5	1048	5	HAPLN3	15	89430480	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	8001468	89430480	13100912	76	12123											
GNPTG	84572	broad.mit.edu	37	chr16	1412483	1412483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagaggccctgcagcGgcagtgggaccaggtagagc	8	4	16	13	1	0	2	0	0	0	2	0	3	0	3	4	4	4	3	4	4	1	1	rs139997459		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:1412483G>A	ENST00000204679.4	+	8	600	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	186					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCTGCAGCGGCAGTGGGAC	0.682													G|||	1	0.000199681	0	0.0014	5008	,	,		15538	0		0	False		,,,				2504	0					uc002clm.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(556-558)cGg>cAg		Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.							33	37	36					16																	1412483		2199	4300	6499	SO:0001583	missense	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412483G>A	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.557G>A	16.37:g.1412483G>A	ENSP00000204679:p.Arg186Gln						p.R186Q	NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN			7	624	+		Hepatocellular(780;0.0893)	186					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.557G>A	CCDS10436.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.761	0.324847	0.10900	.	.	ENSG00000090581	ENST00000204679	D	0.87729	-2.29	4.97	-4.38	0.03622	.	0.832224	0.11087	N	0.601236	T	0.53738	0.1815	N	0.00801	-1.175	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.57568	-0.7789	10	0.02654	T	1	-7.5368	4.9508	0.14013	0.6571:0.0:0.1133:0.2296	.	186	Q9UJJ9	GNPTG_HUMAN	Q	186	ENSP00000204679:R186Q	ENSP00000204679:R186Q	R	+	2	0	GNPTG	1352484	0.004000	0.15560	0.072000	0.20136	0.989000	0.77384	-0.056000	0.11787	-1.109000	0.02996	-0.312000	0.09012	CGG		0.682	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		A	1412483	G	A	1412483	3	1	170	1	0	0	0	0	1	0	0	0	6546	1116	39	2	587	2	GNPTG	16	1412483	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		1412483	88942270	77	12124											
TEKT5	146279	broad.mit.edu	37	chr16	10788509	10788509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggcaggatggtgggCggccgcagggtactggtgct	5	8	21	7	2	0	0	0	0	0	0	0	1	0	1	1	7	2	4	1	7	1	1	rs532956287		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:10788509C>T	ENST00000283025.2	-	1	293	c.222G>A	c.(220-222)ccG>ccA	p.P74P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	74						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(220-222)ccG>ccA		Homo sapiens tektin 5 (TEKT5), mRNA.							84	97	93					16																	10788509		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788509C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.222G>A	16.37:g.10788509C>T							p.P74P	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			0	294	-			74					A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.222G>A	CCDS10542.1																																																																																				0.642	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		T	10788509	C	T	10788509	2	4	170	1	0	0	0	0	0	0	0	1	15753	755	27	1		1	TEKT5	16	10788509	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	9376026	10788509	79566244	78	12125											
ITGAM	3684	broad.mit.edu	37	chr16	31336846	31336846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcacagcgatcctggcGcctggcctgtgagtctgcct	4	9	13	15	3	2	1	1	1	1	0	3	2	3	1	4	2	2	1	4	2	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:31336846G>A	ENST00000287497.8	+	21	2606	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R845H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	844					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.R844H(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGATCCTGGCGCCTGGCCTGT	0.602																																						uc002ebr.3																			1	Substitution - Missense(1)	p.R844H(2)	prostate(1)	endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(2533-2535)cGc>cAc		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							59	63	61					16																	31336846		2064	4193	6257	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336846G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2531G>A	16.37:g.31336846G>A	ENSP00000287497:p.Arg844His					ITGAM_uc002ebq.3_Missense_Mutation_p.R844H|ITGAM_uc010can.3_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H	p.R845H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			20	2632	+			844					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2534G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239314	0.22711	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	3.6	0.327	0.15913	Integrin alpha-2 (1);	.	.	.	.	T	0.39145	0.1067	M	0.65975	2.015	0.09310	N	1	B;B;B	0.28350	0.208;0.034;0.034	B;B;B	0.28232	0.087;0.052;0.052	T	0.30416	-0.9979	9	0.30078	T	0.28	.	3.361	0.07186	0.1096:0.1657:0.5561:0.1686	.	250;844;844	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	H	845;844	ENSP00000441691:R845H;ENSP00000287497:R844H	ENSP00000287497:R844H	R	+	2	0	ITGAM	31244347	0.001000	0.12720	0.078000	0.20375	0.104000	0.19210	0.254000	0.18314	0.741000	0.32674	-0.142000	0.14014	CGC		0.602	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31336846	G	A	31336846	3	1	170	1	0	0	0	0	1	0	0	0	7887	1087	38	1	2616	1	ITGAM	16	31336846	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	20548337	31336846	59017907	79	12126											
DPEP3	64180	broad.mit.edu	37	chr16	68010069	68010069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcctcgctccagctaCgactcagcaactcctctatc	7	11	5	18	2	3	0	1	0	2	0	8	1	6	0	3	0	4	4	3	0	3	3	rs377446311		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:68010069C>T	ENST00000268793.4	-	9	1605	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	386					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCTCCAGCTACGACTCAGCAA	0.577													C|||	1	0.000199681	0	0	5008	,	,		17638	0		0	False		,,,				2504	0.001					uc002evc.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1231-1233)cGt>cAt		Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	143	132	136		1229,1232	4.8	0.9	16		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DPEP3	NM_001129758.1,NM_022357.3	29,29	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	410/513,411/514	68010069	2,12994	2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010069C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1232G>A	16.37:g.68010069C>T	ENSP00000268793:p.Arg411His					DPEP3_uc010cex.3_Missense_Mutation_p.R410H	p.R411H	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	8	1326	-		Ovarian(137;0.192)	386					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1232G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076454	0.76415	2.27E-4	1.16E-4	ENSG00000141096	ENST00000268793	T	0.27720	1.65	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	M	0.91459	3.21	0.58432	D	0.999995	P	0.37276	0.589	B	0.36885	0.235	T	0.59156	-0.7507	10	0.52906	T	0.07	-2.3584	17.0545	0.86530	0.0:1.0:0.0:0.0	.	386	Q9H4B8	DPEP3_HUMAN	H	411	ENSP00000268793:R411H	ENSP00000268793:R411H	R	-	2	0	DPEP3	66567570	1.000000	0.71417	0.925000	0.36789	0.995000	0.86356	5.589000	0.67523	2.619000	0.88677	0.655000	0.94253	CGT		0.577	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		T	68010069	C	T	68010069	3	4	170	1	0	0	0	0	1	0	0	0	4715	536	19	1	317	1	DPEP3	16	68010069	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	36673223	68010069	22344684	80	12127											
CNTNAP4	85445	broad.mit.edu	37	chr16	76482757	76482757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcagtgctcatccagcGtttgggcaaacaagtcaact	11	10	9	11	1	3	0	3	0	0	0	4	0	4	0	1	1	4	4	1	1	3	2	rs148969138		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:76482757G>A	ENST00000476707.1	+	5	984	c.845G>A	c.(844-846)cGt>cAt	p.R282H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R254H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R278H|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R278H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	279	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCATCCAGCGTTTGGGCAAA	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		18074	0		0	False		,,,				2504	0					uc002fex.1																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(844-846)cGt>cAt		Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	2,4394	4.2+/-10.8	0,2,2196	145	109	121		835,761	-1.6	0	16	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	29,29	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	benign,benign	279/1309,254/1236	76482757	2,12994	2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76482757G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.845G>A	16.37:g.76482757G>A	ENSP00000417628:p.Arg282His					CNTNAP4_uc002feu.1_Missense_Mutation_p.R278H|CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H	p.R282H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			4	984	+			279			Laminin G-like 1.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885788	0.33348	4.55E-4	0.0	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.34	-1.56	0.08532	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.165870	0.06480	N	0.732719	T	0.69655	0.3135	.	.	.	0.24385	N	0.994777	B;B;B;B	0.15930	0.015;0.015;0.003;0.001	B;B;B;B	0.23716	0.022;0.033;0.048;0.002	T	0.57946	-0.7723	9	0.54805	T	0.06	.	5.2745	0.15641	0.4927:0.0:0.3685:0.1389	.	254;282;254;279	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	H	278;278;254;282	ENSP00000306893:R278H;ENSP00000439733:R278H;ENSP00000418741:R254H;ENSP00000417628:R282H	ENSP00000306893:R278H	R	+	2	0	CNTNAP4	75040258	0.015000	0.18098	0.016000	0.15963	0.942000	0.58702	0.148000	0.16224	-0.089000	0.12484	-0.727000	0.03589	CGT		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76482757	G	A	76482757	3	1	170	1	0	0	0	0	1	0	0	0	3649	1145	40	1	871	1	CNTNAP4	16	76482757	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	8472688	76482757	13871996	81	12128											
SDR42E1	93517	broad.mit.edu	37	chr16	82033639	82033639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgattgagttgctcccGccctgacataccataagagg	9	11	10	11	2	0	3	0	2	0	1	2	4	1	3	3	1	2	3	3	1	2	5	rs572676726	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:82033639G>A	ENST00000328945.5	-	3	386	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	87					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)	p.R87R(1)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGCTCCCGCCCTGACATA	0.498																																						uc002fgu.3																			1	Substitution - coding silent(1)	p.R87R(2)	lung(1)	NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(259-261)Cgg>Tgg		Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.							139	138	138					16																	82033639		2009	4183	6192	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033639G>A	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.259C>T	16.37:g.82033639G>A	ENSP00000332407:p.Arg87Trp						p.R87W	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			2	387	-			87					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.259C>T	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816052	0.32145	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.84516	-1.86;-1.86	6.03	-0.168	0.13343	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.153374	0.53938	D	0.000059	T	0.77691	0.4168	L	0.46947	1.48	0.27854	N	0.940637	B	0.20261	0.043	B	0.08055	0.003	T	0.69394	-0.5157	10	0.59425	D	0.04	-11.0901	10.569	0.45190	0.0694:0.0:0.3647:0.5658	.	87	Q8WUS8	D42E1_HUMAN	W	87;84	ENSP00000332407:R87W;ENSP00000434529:R84W	ENSP00000332407:R87W	R	-	1	2	SDR42E1	80591140	0.590000	0.26815	0.991000	0.47740	0.805000	0.45488	0.454000	0.21827	0.111000	0.17947	-0.899000	0.02877	CGG		0.498	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		A	82033639	G	A	82033639	3	1	170	1	0	0	0	0	1	0	0	0	13973	1086	38	1	926	1	SDR42E1	16	82033639	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5550882	82033639	8321114	82	12129											
CDH13	1012	broad.mit.edu	37	chr16	83704506	83704506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctacaccatcatcaacGgaaaccccgggcagagcttt	11	7	8	15	2	2	1	2	0	0	1	2	2	2	2	4	2	5	2	4	2	3	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:83704506G>A	ENST00000566620.1	+	9	1503	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	CDH13_ENST00000428848.3_Missense_Mutation_p.G366R|CDH13_ENST00000268613.10_Missense_Mutation_p.G452R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	405	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATCATCAACGGAAACCCCGG	0.498																																						uc010vns.2																			0				large_intestine(1)	1						c.(1354-1356)Gga>Aga		Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.							133	131	132					16																	83704506		1950	4145	6095	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704506G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1213G>A	16.37:g.83704506G>A	ENSP00000454435:p.Gly405Arg					CDH13_uc002fgx.3_Missense_Mutation_p.G405R|CDH13_uc010vnt.2_Missense_Mutation_p.G151R|CDH13_uc010vnu.2_Missense_Mutation_p.G366R	p.G452R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1618	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	405			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1354G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567704	0.86439	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.66460	-0.21	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87920	0.6299	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90902	0.4769	9	0.87932	D	0	.	18.9266	0.92548	0.0:0.0:1.0:0.0	.	366;452;405	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	R	452;405;366;107;95	ENSP00000268613:G452R	ENSP00000268613:G452R	G	+	1	0	CDH13	82262007	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	9.082000	0.94059	2.717000	0.92951	0.585000	0.79938	GGA		0.498	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		A	83704506	G	A	83704506	3	1	170	1	0	0	0	0	1	0	0	0	3099	1117	39	2	1247	2	CDH13	16	83704506	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	1670867	83704506	6650247	83	12130											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666722	26666722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaggccatgttcagtGggcgcatggaggtgctgacc	7	9	15	10	1	2	1	2	1	0	0	2	2	2	2	2	4	2	4	2	4	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:26666722G>A	ENST00000226225.2	+	2	442	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	59	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CATGTTCAGTGGGCGCATGGA	0.617																																						uc002hax.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(175-177)Ggg>Agg		Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.							78	73	74					17																	26666722		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26666722G>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.175G>A	17.37:g.26666722G>A	ENSP00000226225:p.Gly59Arg					TNFAIP1_uc002hay.3_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.2_Intron	p.G59R	NM_021137	NP_066960	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	194	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		59			BTB.		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.175G>A	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403034	0.62288	.	.	ENSG00000109079	ENST00000226225	T	0.76316	-1.01	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90790	0.4686	10	0.87932	D	0	-20.0916	18.751	0.91814	0.0:0.0:1.0:0.0	.	59	Q13829	BACD2_HUMAN	R	59	ENSP00000226225:G59R	ENSP00000226225:G59R	G	+	1	0	TNFAIP1	23690849	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.476000	0.97823	2.666000	0.90696	0.561000	0.74099	GGG		0.617	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		A	26666722	G	A	26666722	3	1	170	1	0	0	0	0	1	0	0	0	16269	1348	47	3	177	3	TNFAIP1	17	26666722	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		26666722	54528488	84	12131											
KRT32	3882	broad.mit.edu	37	chr17	39619277	39619277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcgggcctcactctccGtcagcgtgttttccagggag	5	11	13	12	3	3	0	2	0	1	0	5	1	4	1	3	2	2	2	3	2	1	3	rs368676953		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:39619277G>A	ENST00000225899.3	-	6	1125	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	341	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCACTCTCCGTCAGCGTGTT	0.572																																						uc002hwr.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1021-1023)aCg>aTg		Homo sapiens keratin 32 (KRT32), mRNA.		G	MET/THR	0,4406		0,0,2203	66	67	67		1022	1.3	0	17		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT32	NM_002278.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	341/449	39619277	1,13005	2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39619277G>A	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1022C>T	17.37:g.39619277G>A	ENSP00000225899:p.Thr341Met						p.T341M	NM_002278	NP_002269	Q14532	K1H2_HUMAN			5	1083	-		Breast(137;0.000812)	341			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225899.3	37	c.1022C>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633016	0.29068	0.0	1.16E-4	ENSG00000108759	ENST00000225899	D	0.89050	-2.46	4.74	1.31	0.21738	Filament (1);	1.347140	0.05417	N	0.543572	D	0.85890	0.5802	L	0.60845	1.875	0.09310	N	1	P	0.34662	0.462	B	0.33254	0.16	T	0.74247	-0.3727	10	0.66056	D	0.02	.	5.6648	0.17689	0.081:0.1422:0.6389:0.1378	.	341	Q14532	K1H2_HUMAN	M	341	ENSP00000225899:T341M	ENSP00000225899:T341M	T	-	2	0	KRT32	36872803	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.888000	0.28268	0.493000	0.27837	0.491000	0.48974	ACG		0.572	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		A	39619277	G	A	39619277	3	1	170	1	0	0	0	0	1	0	0	0	8468	1145	40	1	332	1	KRT32	17	39619277	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	12952555	39619277	41575933	85	12132											
DCC	1630	broad.mit.edu	37	chr18	50451729	50451729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagtgcctctgcagagcTcacagtcttgggtaagttag	9	13	11	8	0	3	1	1	0	2	1	3	1	3	1	1	1	3	4	1	1	4	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr18:50451729T>C	ENST00000442544.2	+	5	1590	c.974T>C	c.(973-975)cTc>cCc	p.L325P	DCC_ENST00000412726.1_Missense_Mutation_p.L173P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	325	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGCAGAGCTCACAGTCTTG	0.388																																						uc002lfe.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(973-975)cTc>cCc		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							125	127	126					18																	50451729		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50451729T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.974T>C	18.37:g.50451729T>C	ENSP00000389140:p.Leu325Pro					DCC_uc010xdr.1_Missense_Mutation_p.L173P	p.L325P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1590	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	325			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.974T>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207589	0.39003	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.87571	-2.27;-2.27	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000006	D	0.96417	0.8831	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98034	1.0378	10	0.87932	D	0	.	15.3697	0.74554	0.0:0.0:0.0:1.0	.	173;325	E7EQM8;P43146	.;DCC_HUMAN	P	325;258;173	ENSP00000389140:L325P;ENSP00000397322:L173P	ENSP00000304146:L258P	L	+	2	0	DCC	48705727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.981000	0.70524	2.270000	0.75569	0.482000	0.46254	CTC		0.388	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50451729	T	C	50451729	3	2	170	1	0	0	0	0	1	0	0	0	4282	1551	54	4	992	4	DCC	18	50451729	Missense_Mutation	SNP	T	TCGA-19-5959-01A-11D-1696-08		50451729	27625519	86	12133											
ATCAY	85300	broad.mit.edu	37	chr19	3909561	3909561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacggtgccacgccccggcGgaggatgcctggaatcggct	7	5	16	13	5	0	0	0	0	0	0	1	4	0	3	4	6	3	1	4	6	2	0	rs373780288		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:3909561G>A	ENST00000450849.2	+	7	1192	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	ATCAY_ENST00000398448.3_Missense_Mutation_p.R248Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.R242Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.R242Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCCCCGGCGGAGGATGCCT	0.592																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(742-744)cGg>cAg		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.		G	GLN/ARG	0,4260		0,0,2130	41	46	44		725	5.2	1	19		44	1,8475		0,1,4237	no	missense	ATCAY	NM_033064.4	43	0,1,6367	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	242/372	3909561	1,12735	2130	4238	6368	SO:0001583	missense	85300				transport		protein binding	g.chr19:3909561G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.725G>A	19.37:g.3909561G>A	ENSP00000390941:p.Arg242Gln					ATCAY_uc002lyy.4_Missense_Mutation_p.R242Q|ATCAY_uc010dts.3_5'UTR	p.R248Q			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	7	1226	+		Hepatocellular(1079;0.137)	242			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.743G>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438391	0.83885	0.0	1.18E-4	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.290551	0.37136	N	0.002238	T	0.20981	0.0505	L	0.33668	1.02	0.41853	D	0.99018	P;B	0.43412	0.806;0.41	B;B	0.37650	0.255;0.163	T	0.02917	-1.1094	10	0.23891	T	0.37	.	17.8229	0.88655	0.0:0.0:1.0:0.0	.	248;242	B4DS11;Q86WG3	.;ATCAY_HUMAN	Q	242;242;242;248;220	ENSP00000390941:R242Q;ENSP00000301260:R242Q;ENSP00000381466:R248Q	ENSP00000301260:R242Q	R	+	2	0	ATCAY	3860561	1.000000	0.71417	0.996000	0.52242	0.872000	0.50106	5.046000	0.64226	2.456000	0.83038	0.585000	0.79938	CGG		0.592	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			A	3909561	G	A	3909561	3	1	170	1	0	0	0	0	1	0	0	0	1077	1116	39	2	747	2	ATCAY	19	3909561	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		3909561	55219422	87	12134											
TNFSF9	8744	broad.mit.edu	37	chr19	6534936	6534936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgctgcacctgagtgcCggccagcgcctgggcgtcca	4	7	14	16	4	0	1	0	1	0	0	1	1	1	1	5	2	4	3	5	2	0	1	rs201323170		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:6534936C>T	ENST00000245817.3	+	3	662	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	208					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACCTGAGTGCCGGCCAGCGCC	0.697													c|||	1	0.000199681	0	0.0014	5008	,	,		12431	0		0	False		,,,				2504	0					uc002mfh.2																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(622-624)gcC>gcT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							14	16	15					19																	6534936		2185	4286	6471	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6534936C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.624C>T	19.37:g.6534936C>T							p.A208A	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	662	+			208					Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.624C>T	CCDS12169.1																																																																																				0.697	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		T	6534936	C	T	6534936	2	4	170	1	0	0	0	0	0	0	0	1	16309	639	23	2		2	TNFSF9	19	6534936	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	2625375	6534936	52594047	88	12135											
DOCK6	57572	broad.mit.edu	37	chr19	11361720	11361720	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagaggcaccactgcttcGaggggtgtcttccggggagc	6	8	16	11	2	1	1	0	0	1	1	3	3	2	2	2	5	2	3	2	5	1	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:11361720G>A	ENST00000294618.7	-	6	561	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	184					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCACTGCTTCGAGGGGTGTCT	0.607																																						uc002mqs.4																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(550-552)Cga>Tga		Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.							22	27	25					19																	11361720		1984	4160	6144	SO:0001587	stop_gained	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361720G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.550C>T	19.37:g.11361720G>A	ENSP00000294618:p.Arg184*						p.R184*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			5	591	-			184					A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	37	c.550C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	37	6.386196	0.97524	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1629	16.7706	0.85536	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000294618:R184X	R	-	1	2	DOCK6	11222720	1.000000	0.71417	0.690000	0.30148	0.678000	0.39670	7.173000	0.77612	2.250000	0.74265	0.462000	0.41574	CGA		0.607	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11361720	G	A	11361720	4	1	170	1	0	0	0	0	0	1	0	0	4691	1066	37	2	5765	2	DOCK6	19	11361720	Nonsense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	4826784	11361720	47767263	89	12136											
OR10H5	284433	broad.mit.edu	37	chr19	15905063	15905063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgccctctccatcAccgagatcctctacaccgtg	6	11	7	17	2	3	1	1	0	2	1	6	2	5	1	6	0	2	0	6	0	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:15905063A>G	ENST00000308940.8	+	1	303	c.205A>G	c.(205-207)Acc>Gcc	p.T69A		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCTCTCCATCACCGAGATCCT	0.622																																						uc010xos.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(205-207)Acc>Gcc		Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.							199	160	173					19																	15905063		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905063A>G	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.205A>G	19.37:g.15905063A>G	ENSP00000310704:p.Thr69Ala						p.T69A	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			0	205	+			69					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.205A>G	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	4.046	0.006202	0.07866	.	.	ENSG00000172519	ENST00000308940	T	0.02944	4.1	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.01627	0.0052	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46816	-0.9164	10	0.46703	T	0.11	.	3.0744	0.06241	0.2124:0.1185:0.0:0.6691	.	69	Q8NGA6	O10H5_HUMAN	A	69	ENSP00000310704:T69A	ENSP00000310704:T69A	T	+	1	0	OR10H5	15766063	0.000000	0.05858	0.424000	0.26647	0.095000	0.18619	-1.097000	0.03349	0.351000	0.24027	-0.346000	0.07831	ACC		0.622	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			G	15905063	A	G	15905063	3	3	170	1	0	0	0	0	1	0	0	0	10909	159	6	4	207	4	OR10H5	19	15905063	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	4543343	15905063	43223920	90	12137											
HIF3A	64344	broad.mit.edu	37	chr19	46832519	46832519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatctccatggatgatgActtccagctcaacgccagcg	10	9	8	14	2	2	2	1	2	1	0	4	3	3	3	3	1	4	1	3	1	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:46832519A>G	ENST00000377670.4	+	12	1527	c.1496A>G	c.(1495-1497)gAc>gGc	p.D499G	HIF3A_ENST00000244303.6_Missense_Mutation_p.D430G|HIF3A_ENST00000300862.3_Missense_Mutation_p.D497G|HIF3A_ENST00000420102.2_Missense_Mutation_p.D448G|HIF3A_ENST00000339613.2_Missense_Mutation_p.D443G|HIF3A_ENST00000472815.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.D430G	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	499	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ATGGATGATGACTTCCAGCTC	0.622																																						uc002peh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1495-1497)gAc>gGc		Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.							77	73	74					19																	46832519		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46832519A>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1496A>G	19.37:g.46832519A>G	ENSP00000366898:p.Asp499Gly					HIF3A_uc002peg.4_Missense_Mutation_p.D499G|HIF3A_uc021uwf.1_Missense_Mutation_p.D443G|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.D430G|HIF3A_uc002pel.3_Missense_Mutation_p.D497G|HIF3A_uc010xxz.2_Missense_Mutation_p.D448G	p.D499G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	11	1527	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	499			NTAD.|ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1496A>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110824	0.77210	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	4.81	4.81	0.61882	.	0.316432	0.22910	N	0.054157	D	0.98732	0.9574	M	0.68952	2.095	0.48341	D	0.999636	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999;0.998	D	0.99312	1.0904	10	0.72032	D	0.01	.	11.0539	0.47907	1.0:0.0:0.0:0.0	.	448;430;497;443;499;499	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	G	499;499;430;443;443;497;448	ENSP00000366898:D499G;ENSP00000244303:D430G;ENSP00000341877:D443G;ENSP00000300862:D497G;ENSP00000407771:D448G	ENSP00000244302:D499G	D	+	2	0	HIF3A	51524359	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.945000	0.70226	1.935000	0.56089	0.528000	0.53228	GAC		0.622	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			G	46832519	A	G	46832519	3	3	170	1	0	0	0	0	1	0	0	0	7105	275	10	4	1566	4	HIF3A	19	46832519	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	30927456	46832519	12296464	91	12138											
FPR2	2358	broad.mit.edu	37	chr19	52272915	52272915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccccaactaatgacaCggctgccaattctgcttcac	10	9	6	16	1	3	1	2	1	1	0	3	1	3	1	3	1	4	2	3	1	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:52272915C>T	ENST00000598776.1	+	2	1776	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	FPR2_ENST00000340023.6_Missense_Mutation_p.T335M|FPR2_ENST00000598953.1_Missense_Mutation_p.T335M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	335					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.T335R(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTAATGACACGGCTGCCAAT	0.537																																						uc002pxr.3																			1	Substitution - Missense(1)	p.T335R(2)|p.T335T(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1003-1005)aCg>aTg		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							66	63	64					19																	52272915		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272915C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.1004C>T	19.37:g.52272915C>T	ENSP00000468897:p.Thr335Met					FPR2_uc002pxs.4_Missense_Mutation_p.T335M|FPR2_uc010epf.3_Missense_Mutation_p.T335M|FPR2_uc021uyp.1_Missense_Mutation_p.T335M	p.T335M	NM_001005738	NP_001453	P25090	FPR2_HUMAN			1	1049	+			335					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.1004C>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527363	0.44969	.	.	ENSG00000171049	ENST00000340023	T	0.39592	1.07	4.49	0.525	0.17072	.	0.401503	0.22134	U	0.064152	T	0.49525	0.1562	M	0.81802	2.56	0.09310	N	1	D	0.63046	0.992	P	0.51742	0.678	T	0.42531	-0.9446	10	0.62326	D	0.03	.	6.806	0.23779	0.3229:0.3606:0.3164:0.0	.	335	P25090	FPR2_HUMAN	M	335	ENSP00000340191:T335M	ENSP00000340191:T335M	T	+	2	0	FPR2	56964727	0.307000	0.24500	0.002000	0.10522	0.020000	0.10135	2.161000	0.42358	0.374000	0.24650	0.484000	0.47621	ACG		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		T	52272915	C	T	52272915	3	4	170	1	0	0	0	0	1	0	0	0	6039	536	19	1	1006	1	FPR2	19	52272915	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	5440396	52272915	6856068	92	12139											
ZNF71	58491	broad.mit.edu	37	chr19	57133247	57133247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaaggccttcagccagCgcatgaacctcactgtgcac	9	6	11	15	2	2	1	2	1	0	0	2	1	2	1	3	2	4	3	3	2	2	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:57133247C>T	ENST00000328070.6	+	3	826	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCAGCCAGCGCATGAACCT	0.637																																						uc002qnm.4																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(592-594)Cgc>Tgc		Homo sapiens zinc finger protein 71 (ZNF71), mRNA.							48	44	45					19																	57133247		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133247C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.592C>T	19.37:g.57133247C>T	ENSP00000328245:p.Arg198Cys					ZNF71_uc021vcg.1_Missense_Mutation_p.R198C	p.R198C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	2	830	+			198					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.592C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720095	0.30503	.	.	ENSG00000197951	ENST00000328070	T	0.08634	3.07	3.47	-0.465	0.12157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.33668	1.02	0.09310	N	1	B	0.28605	0.217	B	0.12156	0.007	T	0.30650	-0.9971	9	0.54805	T	0.06	.	10.7593	0.46256	0.7099:0.2901:0.0:0.0	.	198	Q9NQZ8	ZNF71_HUMAN	C	198	ENSP00000328245:R198C	ENSP00000328245:R198C	R	+	1	0	ZNF71	61825059	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-1.347000	0.02632	0.170000	0.19704	0.561000	0.74099	CGC		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		T	57133247	C	T	57133247	3	4	170	1	0	0	0	0	1	0	0	0	18111	768	27	1	594	1	ZNF71	19	57133247	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	4860332	57133247	1995736	93	12140											
CHGB	1114	broad.mit.edu	37	chr20	5903871	5903871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggacctggagtgggagCgctataggggcagaggaagt	10	6	19	6	1	0	2	0	1	0	1	0	6	0	6	1	6	1	2	1	6	3	2	rs144051265		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:5903871C>T	ENST00000378961.4	+	4	1285	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	361						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGTGGGAGCGCTATAGGGG	0.527																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1081-1083)Cgc>Tgc		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.		C	CYS/ARG	0,4406		0,0,2203	87	89	89		1081	3	0	20	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHGB	NM_001819.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	361/678	5903871	2,13004	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903871C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1081C>T	20.37:g.5903871C>T	ENSP00000368244:p.Arg361Cys					CHGB_uc010zqz.2_Missense_Mutation_p.R44C	p.R361C	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	1387	+			361					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1081C>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692952	0.30052	0.0	2.33E-4	ENSG00000089199	ENST00000378961	T	0.02050	4.48	5.07	3.01	0.34805	.	1.255240	0.05824	N	0.616205	T	0.08447	0.0210	M	0.62723	1.935	0.09310	N	1	D	0.69078	0.997	P	0.57846	0.828	T	0.31779	-0.9931	10	0.87932	D	0	0.1302	7.44	0.27176	0.5507:0.3435:0.1058:0.0	.	361	P05060	SCG1_HUMAN	C	361	ENSP00000368244:R361C	ENSP00000368244:R361C	R	+	1	0	CHGB	5851871	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.083000	0.14871	0.553000	0.29044	0.563000	0.77884	CGC		0.527	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903871	C	T	5903871	3	4	170	1	0	0	0	0	1	0	0	0	3339	768	27	1	1095	1	CHGB	20	5903871	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		5903871	57121649	94	12141											
SNTA1	6640	broad.mit.edu	37	chr20	32000203	32000203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcagttagcagggcCagggtgggggctgtgccccc	4	10	15	12	0	1	0	1	0	0	0	2	0	2	0	4	4	2	3	4	4	1	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:32000203C>T	ENST00000217381.2	-	5	1210	c.939G>A	c.(937-939)ctG>ctA	p.L313L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	313	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTAGCAGGGCCAGGGTGGGGG	0.652																																						uc002wzd.1																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(937-939)ctG>ctA		Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.							17	22	20					20																	32000203		2200	4295	6495	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32000203C>T	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.939G>A	20.37:g.32000203C>T						SNTA1_uc010zuf.1_Intron	p.L313L	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			4	1211	-			313			PH 2.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.939G>A	CCDS13220.1																																																																																				0.652	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		T	32000203	C	T	32000203	2	4	170	1	0	0	0	0	0	0	0	1	14871	581	21	3		3	SNTA1	20	32000203	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	26096332	32000203	31025317	95	12142											
SRMS	6725	broad.mit.edu	37	chr20	62178625	62178625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctccccgccacaccgCgccgtgaagtcatagagcgc	8	5	10	18	5	2	2	2	1	0	1	3	2	3	2	5	0	2	1	5	0	2	1	rs140773907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:62178625C>T	ENST00000217188.1	-	1	232	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	64	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCACACCGCGCCGTGAAGT	0.692																																						uc002yfi.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(190-192)gcG>gcA		Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.		C		0,4330		0,0,2165	148	150	149		192	-2.8	0	20	dbSNP_134	149	1,8419		0,1,4209	no	coding-synonymous	SRMS	NM_080823.2		0,1,6374	TT,TC,CC		0.0119,0.0,0.0078		64/489	62178625	1,12749	2165	4210	6375	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178625C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.192G>A	20.37:g.62178625C>T							p.A64A	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		0	233	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		64			SH3.			Silent	SNP	ENST00000217188.1	37	c.192G>A	CCDS13525.1																																																																																				0.692	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		T	62178625	C	T	62178625	2	4	170	1	0	0	0	0	0	0	0	1	15151	755	27	1		1	SRMS	20	62178625	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	30178422	62178625	846895	96	12143											
PCNT	5116	broad.mit.edu	37	chr21	47850134	47850134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggtgcagcaggaggTcctccagctgaggtgcgcct	6	7	16	12	2	0	1	0	1	0	0	2	3	2	2	3	4	5	3	3	4	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr21:47850134T>C	ENST00000359568.5	+	36	8008	c.7901T>C	c.(7900-7902)gTc>gCc	p.V2634A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2634					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCAGGAGGTCCTCCAGCTG	0.607																																						uc002zji.4																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7900-7902)gTc>gCc		Homo sapiens pericentrin (PCNT), mRNA.							51	50	50					21																	47850134		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47850134T>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7901T>C	21.37:g.47850134T>C	ENSP00000352572:p.Val2634Ala					PCNT_uc002zjj.3_Missense_Mutation_p.V2516A	p.V2634A	NM_006031	NP_006022	O95613	PCNT_HUMAN			35	8008	+	Breast(49;0.112)		2634					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7901T>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	t	14.89	2.669732	0.47677	.	.	ENSG00000160299	ENST00000359568	T	0.01821	4.62	4.31	1.9	0.25705	.	.	.	.	.	T	0.05227	0.0139	L	0.54323	1.7	0.09310	N	0.999995	D;D	0.76494	0.965;0.999	P;D	0.68353	0.546;0.957	T	0.41088	-0.9528	9	0.20046	T	0.44	.	7.1647	0.25683	0.0:0.1897:0.0:0.8103	.	2516;2634	O95613-2;O95613	.;PCNT_HUMAN	A	2634	ENSP00000352572:V2634A	ENSP00000352572:V2634A	V	+	2	0	PCNT	46674562	0.986000	0.35501	0.826000	0.32828	0.585000	0.36419	2.620000	0.46410	0.272000	0.22027	-0.550000	0.04213	GTC		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47850134	T	C	47850134	3	2	170	1	0	0	0	0	1	0	0	0	11590	1667	58	4	8043	4	PCNT	21	47850134	Missense_Mutation	SNP	T	TCGA-19-5959-01A-11D-1696-08		47850134	279761	97	12144											
ZRSR2	8233	broad.mit.edu	37	chrX	15841126	15841126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaagtagtcgtcacaggGggaagaaatctcacaaacgc	16	5	12	8	2	2	1	2	0	1	1	4	3	2	3	0	3	1	1	0	3	6	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:15841126G>A	ENST00000307771.7	+	11	1234	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	404					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCGTCACAGGGGGAAGAAATC	0.552			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.4				Rec	yes		X	Xp22.1	8233	"F, S, Mis"	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"			L			"MDS, CLL"		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(1210-1212)Ggg>Agg		Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.							47	46	46					X																	15841126		2201	4299	6500	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15841126G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1210G>A	X.37:g.15841126G>A	ENSP00000303015:p.Gly404Arg						p.G404R	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			10	1255	+	Hepatocellular(33;0.183)		404					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.1210G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629816	0.28978	.	.	ENSG00000169249	ENST00000307771	D	0.85339	-1.97	5.35	2.05	0.26809	.	1.363860	0.04012	N	0.298332	T	0.74786	0.3762	L	0.29908	0.895	0.46317	D	0.998989	B	0.06786	0.001	B	0.04013	0.001	T	0.60505	-0.7250	10	0.12103	T	0.63	.	3.8797	0.09072	0.5191:0.1895:0.2914:0.0	.	404	Q15696	U2AFM_HUMAN	R	404	ENSP00000303015:G404R	ENSP00000303015:G404R	G	+	1	0	ZRSR2	15751047	0.961000	0.32948	0.029000	0.17559	0.982000	0.71751	3.039000	0.49791	0.500000	0.27991	0.506000	0.49869	GGG		0.552	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		A	15841126	G	A	15841126	3	1	170	1	0	0	0	0	1	0	0	0	18222	1232	43	3	1252	3	ZRSR2	23	15841126	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		15841126	139429434	98	12145											
FTHL17	53940	broad.mit.edu	37	chrX	31089936	31089936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctccagggccacgtcGtcccggttgaagtagaaggc	9	8	13	11	3	1	2	0	1	1	1	4	2	2	2	3	3	0	3	3	3	4	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:31089936G>A	ENST00000359202.3	-	1	234	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	45	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582																																						uc004dcl.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(133-135)gaC>gaT		Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.							92	79	84					X																	31089936		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089936G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.135C>T	X.37:g.31089936G>A							p.D45D	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			0	235	-			45			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.135C>T	CCDS14227.1																																																																																				0.582	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		A	31089936	G	A	31089936	2	1	170	1	0	0	0	0	0	0	0	1	6083	1136	40	1		1	FTHL17	23	31089936	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	15248810	31089936	124180624	99	12146											
HUWE1	10075	broad.mit.edu	37	chrX	53591568	53591568	+	Frame_Shift_Del	DEL	C	C	-																															gaactgagcacctcaggctgCccagcaatcaccactgagtc																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:53591568delC	ENST00000342160.3	-	50	7453	c.6996delG	c.(6994-6996)gggfs	p.G2332fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.G2332fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2332	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTCAGGCTGCCCAGCAATCA	0.562																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6994-6996)gggfs		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							143	86	105					X																	53591568		2203	4300	6503	SO:0001589	frameshift_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53591568delC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6996delG	X.37:g.53591568delC	ENSP00000340648:p.Gly2332fs					HUWE1_uc004dsn.3_Frame_Shift_Del_p.G1156fs	p.G2332fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			50	7398	-			2332			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	ENST00000342160.3	37	c.6996delG	CCDS35301.1																																																																																				0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		-	53591568	C	-	53591568	7	5	170	1	0	1	0	1	0	0	0	0	7461	726	26	0	6264	0	HUWE1	23	53591568	Frame_Shift_Del	DEL	C	TCGA-19-5959-01A-11D-1696-08	22501632	53591568	101678992	100	12147											
FAM155B	27112	broad.mit.edu	37	chrX	68725733	68725733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttgcgacacctacaCggtctgggacttgctgctgg	5	12	11	13	2	1	0	0	0	1	0	2	2	2	1	2	3	4	2	2	3	1	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:68725733C>T	ENST00000252338.4	+	1	650	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	203						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACACCTACACGGTCTGGGAC	0.632																																						uc004dxk.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(607-609)aCg>aTg		Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.							54	51	52					X																	68725733		2202	4300	6502	SO:0001583	missense	27112					integral to membrane		g.chrX:68725733C>T	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.608C>T	X.37:g.68725733C>T	ENSP00000252338:p.Thr203Met						p.T203M	NM_015686	NP_056501	O75949	F155B_HUMAN			0	656	+			203					B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	c.608C>T	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644885	0.67358	.	.	ENSG00000130054	ENST00000252338	T	0.13420	2.59	4.9	4.9	0.64082	.	0.080742	0.47093	D	0.000257	T	0.28632	0.0709	L	0.48642	1.525	0.47183	D	0.999348	D	0.89917	1.0	D	0.63703	0.917	T	0.01679	-1.1297	10	0.87932	D	0	-4.2179	14.5826	0.68302	0.0:1.0:0.0:0.0	.	203	O75949-2	.	M	203	ENSP00000252338:T203M	ENSP00000252338:T203M	T	+	2	0	FAM155B	68642458	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.039000	0.76544	2.023000	0.59567	0.464000	0.42555	ACG		0.632	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		T	68725733	C	T	68725733	3	4	170	1	0	0	0	0	1	0	0	0	5466	536	19	1	610	1	FAM155B	23	68725733	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	15134165	68725733	86544827	101	12148											
AIFM1	9131	broad.mit.edu	37	chrX	129272643	129272643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaattgatttgacttcccGtgaaatcttctccaagcttc	9	15	6	11	2	2	3	0	3	2	0	5	3	3	3	2	0	1	2	2	0	3	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:129272643G>A	ENST00000287295.3	-	9	1122	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.R211W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R294W|AIFM1_ENST00000440263.1_5'Flank	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	298	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TTGACTTCCCGTGAAATCTTC	0.433																																						uc004evg.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(892-894)Cgg>Tgg		Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							115	103	107					X																	129272643		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272643G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.892C>T	X.37:g.129272643G>A	ENSP00000287295:p.Arg298Trp					AIFM1_uc011mur.2_5'Flank|AIFM1_uc011mus.2_Missense_Mutation_p.R298W|AIFM1_uc004evh.3_Missense_Mutation_p.R294W|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR	p.R298W	NM_004208	NP_004199	O95831	AIFM1_HUMAN			8	1123	-			298			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.892C>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832744	0.71258	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.49139	0.79;0.79;0.79	5.54	4.59	0.56863	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.110824	0.64402	D	0.000019	T	0.67297	0.2878	M	0.81802	2.56	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.844;0.921	T	0.71702	-0.4513	10	0.72032	D	0.01	-9.5066	11.6487	0.51275	0.0:0.0:0.7355:0.2645	.	298;294;298	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	W	294;211;298	ENSP00000315122:R294W;ENSP00000446113:R211W;ENSP00000287295:R298W	ENSP00000287295:R298W	R	-	1	2	AIFM1	129100324	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	3.421000	0.52742	2.306000	0.77630	0.600000	0.82982	CGG		0.433	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			A	129272643	G	A	129272643	3	1	170	1	0	0	0	0	1	0	0	0	426	1144	40	1	993	1	AIFM1	23	129272643	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	60546910	129272643	25997917	102	12149											
GPR112	139378	broad.mit.edu	37	chrX	135431775	135431775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacttccacattggctgaCgttaagcacacatttgagaa	13	11	7	10	1	1	2	1	2	0	1	2	3	2	2	1	1	1	3	1	1	2	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:135431775C>T	ENST00000394143.1	+	6	6201	c.5910C>T	c.(5908-5910)gaC>gaT	p.D1970D	GPR112_ENST00000287534.4_Silent_p.D1907D|GPR112_ENST00000394141.1_Silent_p.D1765D|GPR112_ENST00000370652.1_Silent_p.D1970D|GPR112_ENST00000412101.1_Silent_p.D1765D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1970					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D1970D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGCTGACGTTAAGCACA	0.413																																						uc004ezu.1																			1	Substitution - coding silent(1)	p.D1970D(2)	lung(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5908-5910)gaC>gaT		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							105	99	101					X																	135431775		2203	4299	6502	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431775C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5910C>T	X.37:g.135431775C>T						GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	p.D1970D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	6201	+	Acute lymphoblastic leukemia(192;0.000127)		1970					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.5910C>T	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135431775	C	T	135431775	2	4	170	1	0	0	0	0	0	0	0	1	6629	535	19	1		1	GPR112	23	135431775	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	6159132	135431775	19838785	103	12150											
SRPK3	26576	broad.mit.edu	37	chrX	153049211	153049211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctggctctgacagcagaCcggtaagctgtccaaaaaca	13	6	9	13	1	1	2	0	1	1	1	2	2	2	2	3	2	3	4	3	2	3	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:153049211C>A	ENST00000370101.3	+	9	825	c.779C>A	c.(778-780)aCc>aAc	p.T260N	SRPK3_ENST00000370104.1_Splice_Site_p.T259N|SRPK3_ENST00000370108.3_Splice_Site_p.T259N|SRPK3_ENST00000370100.1_Splice_Site_p.T217N|SRPK3_ENST00000393786.3_Splice_Site_p.T259N|SRPK3_ENST00000489426.1_Missense_Mutation_p.T327N	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACAGCAGACCGGTAAGCTG	0.622																																					Esophageal Squamous(167;766 3400 32156)	uc004fik.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(976-978)aCc>aAc		Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.							36	37	37					X																	153049211		2200	4297	6497	SO:0001583	missense	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049211C>A	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.779C>A	X.37:g.153049211C>A	ENSP00000359119:p.Thr260Asn					SRPK3_uc004fim.3_Splice_Site_p.T259_splice|SRPK3_uc004fil.3_Missense_Mutation_p.T260N|SRPK3_uc004fin.3_Splice_Site_p.T259_splice|SRPK3_uc010nul.3_Splice_Site_p.T217_splice	p.T326N	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			14	3402	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		260			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	c.977C>A	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	C	0.221	-1.028313	0.02045	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.54675	0.58;0.61;0.62;0.61;0.59;0.56	5.3	0.074	0.14393	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.737203	0.11423	N	0.565524	T	0.18551	0.0445	N	0.02111	-0.68	0.09310	N	0.999999	B;B;B;B;B	0.15141	0.012;0.0;0.004;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.0;0.01;0.0;0.0	T	0.25779	-1.0122	10	0.08599	T	0.76	-0.214	3.7299	0.08489	0.3154:0.3142:0.0:0.3704	.	217;259;259;260;327	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	N	327;259;259;259;260;217	ENSP00000420058:T327N;ENSP00000377376:T259N;ENSP00000359122:T259N;ENSP00000359126:T259N;ENSP00000359119:T260N;ENSP00000359118:T217N	ENSP00000359118:T217N	T	+	2	0	SRPK3	152702405	0.000000	0.05858	0.033000	0.17914	0.526000	0.34562	-0.542000	0.06091	0.048000	0.15891	0.529000	0.55759	ACC		0.622	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		A	153049211	C	A	153049211	3	1	170	1	0	0	0	0	1	0	0	0	15160	521	18	5	813	5	SRPK3	23	153049211	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	17617436	153049211	2221349	104	12151											
MTF1	4520	broad.mit.edu	37	chr1	38297931	38297931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttaccgtactggaattttCtcgcaattcagaatctgtgg	10	14	8	9	2	3	1	1	0	2	1	4	2	3	2	1	2	2	2	1	2	5	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:38297931C>G	ENST00000373036.4	-	7	1194	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	352					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGAATTTTCTCGCAATTCA	0.393																																						uc001cce.1																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1054-1056)Gaa>Caa		Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.							110	103	105					1																	38297931		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38297931C>G	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1054G>C	1.37:g.38297931C>G	ENSP00000362127:p.Glu352Gln					MTF1_uc009vvj.1_Missense_Mutation_p.E43Q	p.E352Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN			6	1195	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	352					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1054G>C	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734275	0.89482	.	.	ENSG00000188786	ENST00000373036	T	0.10192	2.9	5.23	5.23	0.72850	.	0.048902	0.85682	D	0.000000	T	0.19565	0.0470	M	0.70275	2.135	0.53688	D	0.999979	P	0.45348	0.856	B	0.43623	0.425	T	0.01587	-1.1318	10	0.38643	T	0.18	.	18.8263	0.92121	0.0:1.0:0.0:0.0	.	352	Q14872	MTF1_HUMAN	Q	352	ENSP00000362127:E352Q	ENSP00000362127:E352Q	E	-	1	0	MTF1	38070518	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.121000	0.77160	2.453000	0.82957	0.561000	0.74099	GAA		0.393	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		G	38297931	C	G	38297931	3	3	171	1	0	0	0	0	1	0	0	0	9922	922	32	5	1227	5	MTF1	1	38297931	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		38297931	210952690	1	12152											
BSND	7809	broad.mit.edu	37	chr1	55470704	55470704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttgcagatcaccttcGtccctgctgactctgacttt	5	16	7	13	1	2	3	1	2	1	1	4	3	3	3	2	0	3	3	2	0	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:55470704G>A	ENST00000371265.4	+	2	441	c.187G>A	c.(187-189)Gtc>Atc	p.V63I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	63					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GATCACCTTCGTCCCTGCTGA	0.582																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(187-189)Gtc>Atc		Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.							118	97	104					1																	55470704		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55470704G>A	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.187G>A	1.37:g.55470704G>A	ENSP00000360312:p.Val63Ile						p.V63I	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			1	430	+			63					Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.187G>A	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222729	0.22457	.	.	ENSG00000162399	ENST00000371265	T	0.69435	-0.4	4.08	0.995	0.19838	.	0.334361	0.19180	N	0.120716	T	0.41971	0.1182	N	0.16743	0.435	0.09310	N	0.999992	B	0.22983	0.078	B	0.15052	0.012	T	0.19224	-1.0312	10	0.13853	T	0.58	-6.415	7.5147	0.27593	0.194:0.0:0.806:0.0	.	63	Q8WZ55	BSND_HUMAN	I	63	ENSP00000360312:V63I	ENSP00000360312:V63I	V	+	1	0	BSND	55243292	0.001000	0.12720	0.083000	0.20561	0.810000	0.45777	-0.165000	0.09968	-0.019000	0.14055	0.297000	0.19635	GTC		0.582	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		A	55470704	G	A	55470704	3	1	171	1	0	0	0	0	1	0	0	0	1531	1145	40	1	193	1	BSND	1	55470704	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	17172773	55470704	193779917	2	12153											
HFM1	164045	broad.mit.edu	37	chr1	91840986	91840986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcctgttgcacaccCttccttgttgcacaaaactg	10	10	8	13	0	0	0	0	0	0	0	1	1	1	0	3	0	5	5	3	0	3	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:91840986C>T	ENST00000370425.3	-	13	1712	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Silent_p.K217K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	538	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGCACACCCTTCCTTGTTG	0.308																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1612-1614)aaG>aaA		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							75	71	72					1																	91840986		1827	4080	5907	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91840986C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1614G>A	1.37:g.91840986C>T						HFM1_uc010osu.2_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K	p.K538K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1713	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	538			Helicase C-terminal.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1614G>A	CCDS30769.2																																																																																				0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91840986	C	T	91840986	2	4	171	1	0	0	0	0	0	0	0	1	7083	680	24	3		3	HFM1	1	91840986	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	36370282	91840986	157409635	3	12154											
TCHH	7062	broad.mit.edu	37	chr1	152083402	152083402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccatgtgaagtcccggCgctgctcctcttcctgctgc	4	11	10	16	2	1	1	0	1	1	0	4	1	4	1	4	1	4	3	4	1	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:152083402C>G	ENST00000368804.1	-	2	2290	c.2291G>C	c.(2290-2292)cGc>cCc	p.R764P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	764					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCCCGGCGCTGCTCCTC	0.682																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2290-2292)cGc>cCc		Homo sapiens trichohyalin (TCHH), mRNA.							51	65	60					1																	152083402		2047	4204	6251	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083402C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2291G>C	1.37:g.152083402C>G	ENSP00000357794:p.Arg764Pro					TCHH_uc001ezp.2_Missense_Mutation_p.R764P	p.R764P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2563	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		764					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2291G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.900	0.956034	0.18507	.	.	ENSG00000159450	ENST00000368804	T	0.07688	3.17	4.61	3.59	0.41128	.	.	.	.	.	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.63597	0.916	T	0.38178	-0.9673	9	0.35671	T	0.21	.	12.9036	0.58139	0.1743:0.8257:0.0:0.0	.	764	Q07283	TRHY_HUMAN	P	764	ENSP00000357794:R764P	ENSP00000357794:R764P	R	-	2	0	TCHH	150350026	0.000000	0.05858	0.555000	0.28281	0.725000	0.41563	-0.011000	0.12721	2.096000	0.63516	0.457000	0.33378	CGC		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		G	152083402	C	G	152083402	3	3	171	1	0	0	0	0	1	0	0	0	15697	768	27	5	3544	5	TCHH	1	152083402	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	60242416	152083402	97167219	4	12155											
NCF2	4688	broad.mit.edu	37	chr1	183546838	183546838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctttgatagccaaatCatatctgcaggacagaggga	14	9	11	7	0	3	2	1	1	2	1	3	4	3	4	1	3	2	1	1	3	4	3			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:183546838C>A	ENST00000367535.3	-	3	513	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	NCF2_ENST00000367536.1_Missense_Mutation_p.D88Y|NCF2_ENST00000413720.1_Missense_Mutation_p.D88Y|NCF2_ENST00000418089.1_Missense_Mutation_p.D88Y	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	88					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ATAGCCAAATCATATCTGCAG	0.443																																						uc001gqj.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(262-264)Gat>Tat		Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.							79	78	78					1																	183546838		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546838C>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.262G>T	1.37:g.183546838C>A	ENSP00000356505:p.Asp88Tyr					NCF2_uc010pod.2_Missense_Mutation_p.D88Y|NCF2_uc010poe.2_Missense_Mutation_p.D88Y|NCF2_uc001gqk.4_Missense_Mutation_p.D88Y	p.D88Y	NM_000433	NP_001121123	P19878	NCF2_HUMAN			2	537	-			88					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.262G>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560841	0.45590	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.491876	0.25083	N	0.033268	T	0.70727	0.3257	L	0.46157	1.445	0.35124	D	0.76736	D;D;D	0.76494	0.999;0.991;0.977	D;D;P	0.73380	0.98;0.92;0.873	T	0.77950	-0.2395	10	0.87932	D	0	0.5099	16.6438	0.85155	0.0:1.0:0.0:0.0	.	88;88;88	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	Y	88;116;88;88;88	ENSP00000356506:D88Y;ENSP00000399294:D88Y;ENSP00000407217:D88Y;ENSP00000356505:D88Y	ENSP00000356505:D88Y	D	-	1	0	NCF2	181813461	0.981000	0.34729	0.890000	0.34922	0.077000	0.17291	4.896000	0.63222	2.669000	0.90835	0.655000	0.94253	GAT		0.443	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		A	183546838	C	A	183546838	3	1	171	1	0	0	0	0	1	0	0	0	10217	826	29	5	1370	5	NCF2	1	183546838	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	31463436	183546838	65703783	5	12156											
OBSCN	84033	broad.mit.edu	37	chr1	228505193	228505193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcccccagaggatgctgaGgtggtggctcgcagcagcca	8	6	15	12	1	0	2	0	1	0	1	2	4	1	3	3	4	3	4	3	4	0	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:228505193G>T	ENST00000422127.1	+	52	13634	c.13590G>T	c.(13588-13590)gaG>gaT	p.E4530D	OBSCN_ENST00000570156.2_Missense_Mutation_p.E5487D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4530D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1649D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2164D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4530	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGATGCTGAGGTGGTGGCTC	0.647																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13588-13590)gaG>gaT		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							29	32	31					1																	228505193		2023	4193	6216	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505193G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13590G>T	1.37:g.228505193G>T	ENSP00000409493:p.Glu4530Asp					OBSCN_uc001hsn.3_Missense_Mutation_p.E4530D	p.E4530D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			51	13634	+		Prostate(94;0.0405)	4530			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13590G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	14.54	2.566057	0.45694	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.42	-2.34	0.06704	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.075146	0.52532	D	0.000072	T	0.60534	0.2276	L	0.58510	1.815	0.25087	N	0.990887	D;D	0.71674	0.998;0.988	D;P	0.71870	0.975;0.829	T	0.58808	-0.7571	10	0.18710	T	0.47	.	13.1556	0.59516	0.6019:0.0:0.3981:0.0	.	4530;4530	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	4530;4530;2164;1649	ENSP00000284548:E4530D;ENSP00000409493:E4530D;ENSP00000355668:E2164D;ENSP00000355670:E1649D	ENSP00000284548:E4530D	E	+	3	2	OBSCN	226571816	0.999000	0.42202	0.398000	0.26321	0.253000	0.25986	0.475000	0.22164	-1.111000	0.02988	-1.676000	0.00740	GAG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228505193	G	T	228505193	3	4	171	1	0	0	0	0	1	0	0	0	10812	991	35	5	13792	5	OBSCN	1	228505193	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	44958355	228505193	20745428	6	12157											
EPT1	85465	broad.mit.edu	37	chr2	26596336	26596336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgtgtttactttgttGtgactgtttattccatcttt	5	22	8	6	0	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	2	8			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:26596336G>A	ENST00000260585.7	+	5	531	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	138					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										TTACTTTGTTGTGACTGTTTA	0.433																																						uc021veu.1																			0											c.(412-414)Gtg>Atg		Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.							160	153	156					2																	26596336		1923	4134	6057	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26596336G>A		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.412G>A	2.37:g.26596336G>A	ENSP00000260585:p.Val138Met					EPT1_uc010eyl.1_Non-coding_Transcript	p.V138M	NM_033505		Q9C0D9	EPT1_HUMAN			4	559	+			138					Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.412G>A	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791945	0.50102	.	.	ENSG00000138018	ENST00000442141;ENST00000260585	T;T	0.50277	0.75;0.75	5.97	5.97	0.96955	.	0.104629	0.64402	D	0.000003	T	0.39600	0.1084	N	0.19112	0.55	0.46499	D	0.999071	B	0.27192	0.171	B	0.29785	0.107	T	0.20273	-1.0280	10	0.51188	T	0.08	-1.9978	18.9889	0.92783	0.0:0.0:1.0:0.0	.	138	Q9C0D9	EPT1_HUMAN	M	106;138	ENSP00000415280:V106M;ENSP00000260585:V138M	ENSP00000260585:V138M	V	+	1	0	EPT1	26449840	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.507000	0.73717	2.829000	0.97493	0.650000	0.86243	GTG		0.433	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		A	26596336	G	A	26596336	3	1	171	1	0	0	0	0	1	0	0	0	5199	1377	48	3	430	3	EPT1	2	26596336	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		26596336	216603037	7	12158											
TTN	7273	broad.mit.edu	37	chr2	179432795	179432795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtggtaacctatgaCggggcttccaccattgttga	8	11	11	11	1	0	2	0	2	0	0	2	2	2	2	4	4	1	3	4	4	2	5	rs374764110		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:179432795C>T	ENST00000591111.1	-	276	73365	c.73141G>A	c.(73141-73143)Gtc>Atc	p.V24381I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23454I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17082I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16957I|TTN_ENST00000589042.1_Missense_Mutation_p.V26022I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17149I|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24381	Fibronectin type-III 77. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACCTATGACGGGGCTTCCA	0.443													C|||	1	0.000199681	8e-04	0	5008	,	,		21103	0		0	False		,,,				2504	0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(70360-70362)Gtc>Atc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3757		0,1,1878	102	94	97		51445,51244,70360,50869	3.8	1	2		97	0,8226		0,0,4113	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,1,5991	TT,TC,CC		0.0,0.0266,0.0083	benign,benign,benign,benign	17149/27119,17082/27052,23454/33424,16957/26927	179432795	1,11983	1879	4113	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432795C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73141G>A	2.37:g.179432795C>T	ENSP00000465570:p.Val24381Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17149I|TTN_uc021vta.1_Missense_Mutation_p.V17082I|TTN_uc021vtb.1_Missense_Mutation_p.V16957I	p.V23454I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	70585	-			24381			Fibronectin type-III 70.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.70360G>A		.	.	.	.	.	.	.	.	.	.	C	10.39	1.336386	0.24253	2.66E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.62	3.81	0.43845	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24431	0.0592	N	0.02830	-0.485	0.40342	D	0.97904	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.003	T	0.06303	-1.0834	9	0.87932	D	0	.	10.5499	0.45081	0.0:0.7904:0.0:0.2096	.	16957;17082;17149;24381	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23454;16957;17149;17082;16955	ENSP00000343764:V23454I;ENSP00000434586:V16957I;ENSP00000340554:V17149I;ENSP00000352154:V17082I	ENSP00000340554:V17149I	V	-	1	0	TTN	179141041	0.383000	0.25156	0.980000	0.43619	0.997000	0.91878	0.427000	0.21379	0.704000	0.31869	0.655000	0.94253	GTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179432795	C	T	179432795	3	4	171	1	0	0	0	0	1	0	0	0	16732	536	19	1	30063	1	TTN	2	179432795	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	152836459	179432795	63766578	8	12159											
OXSR1	9943	broad.mit.edu	37	chr3	38266149	38266149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaaaatatggaaaatcaTttagaaaaatgatttcattg	20	13	6	2	0	2	3	2	2	0	1	2	4	2	4	0	1	0	0	0	1	9	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:38266149T>C	ENST00000446845.1	+	8	1162	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L	OXSR1_ENST00000311806.3_Missense_Mutation_p.F264L					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGAAAATCATTTAGAAAAAT	0.313																																						uc003chy.3																			0				skin(1)	1						c.(790-792)Ttt>Ctt		Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.							37	39	38					3																	38266149		2200	4298	6498	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38266149T>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.790T>C	3.37:g.38266149T>C	ENSP00000415851:p.Phe264Leu					OXSR1_uc010hhb.3_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L	p.F264L	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	1132	+			264			Protein kinase.			Missense_Mutation	SNP	ENST00000446845.1	37	c.790T>C		.	.	.	.	.	.	.	.	.	.	T	22.4	4.283911	0.80803	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.61627	0.09;0.09	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045609	0.85682	D	0.000000	T	0.46600	0.1401	N	0.20574	0.59	0.80722	D	1	B;B	0.24882	0.113;0.064	B;B	0.29440	0.102;0.102	T	0.47861	-0.9084	10	0.66056	D	0.02	-16.8532	14.9075	0.70730	0.0:0.0:0.0:1.0	.	264;264	C9JIG9;O95747	.;OXSR1_HUMAN	L	264	ENSP00000415851:F264L;ENSP00000311713:F264L	ENSP00000311713:F264L	F	+	1	0	OXSR1	38241153	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.092000	0.71414	2.191000	0.70037	0.482000	0.46254	TTT		0.313	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		C	38266149	T	C	38266149	3	2	171	1	0	0	0	0	1	0	0	0	11336	1493	52	4	820	4	OXSR1	3	38266149	Missense_Mutation	SNP	T	TCGA-19-5960-01A-11D-1696-08		38266149	159756281	9	12160											
TRAK1	22906	broad.mit.edu	37	chr3	42242442	42242442	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccctcctgtccagctgCgtcagcaccccccggtccag	6	7	8	20	2	1	0	1	0	0	0	5	0	5	0	7	1	4	2	7	1	1	0	rs368017667		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:42242442C>T	ENST00000327628.5	+	12	1723	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.C383C|TRAK1_ENST00000341421.3_Silent_p.C383C|TRAK1_ENST00000449246.1_Silent_p.C367C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	441	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTCCAGCTGCGTCAGCACCC	0.582																																					GBM(44;195 884 22595 31865 41850)	uc003cky.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1321-1323)tgC>tgT		Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	119	111	113		1323,1149	-1.3	1	3		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAK1	NM_001042646.1,NM_014965.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	441/954,383/687	42242442	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242442C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1323C>T	3.37:g.42242442C>T						TRAK1_uc011azh.2_Silent_p.C441C|TRAK1_uc011azi.2_Silent_p.C441C|TRAK1_uc003ckz.4_Silent_p.C367C|TRAK1_uc011azj.2_Silent_p.C367C|TRAK1_uc003cla.3_Silent_p.C383C	p.C441C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			11	1539	+			441			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.1323C>T	CCDS43072.1																																																																																				0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		T	42242442	C	T	42242442	2	4	171	1	0	0	0	0	0	0	0	1	16446	776	27	1		1	TRAK1	3	42242442	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	3976293	42242442	155779988	10	12161											
CASR	846	broad.mit.edu	37	chr3	122003250	122003250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcatcttcttcatcGtctggatctccttcattcca	6	16	5	14	1	7	0	3	0	4	0	10	1	8	1	2	1	1	2	2	1	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:122003250G>A	ENST00000490131.1	+	7	2821	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	CASR_ENST00000296154.5_Missense_Mutation_p.V817I|CASR_ENST00000498619.1_Missense_Mutation_p.V827I|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	817					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTCTTCATCGTCTGGATCTC	0.527																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84	GRCh37	CM952040	CASR	M		c.(2479-2481)Gtc>Atc		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						90	81	84					3																	122003250		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003250G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2449G>A	3.37:g.122003250G>A	ENSP00000418685:p.Val817Ile					CASR_uc003eev.4_Missense_Mutation_p.V817I	p.V827I	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	2917	+			817					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2479G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453044	0.84209	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87571	-2.27;-2.27;-2.27	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93559	0.7944	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	D	0.93328	0.6698	10	0.72032	D	0.01	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	827;817	E7ENE0;P41180	.;CASR_HUMAN	I	817;827;817	ENSP00000418685:V817I;ENSP00000420194:V827I;ENSP00000296154:V817I	ENSP00000296154:V817I	V	+	1	0	CASR	123485940	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GTC		0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	122003250	G	A	122003250	3	1	171	1	0	0	0	0	1	0	0	0	2682	1145	40	1	2501	1	CASR	3	122003250	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	79760808	122003250	76019180	11	12162											
COL6A6	131873	broad.mit.edu	37	chr3	130313143	130313143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcccagggaagagaGggactcctggtgaccgtgga	11	4	18	8	1	0	2	0	1	0	1	1	7	1	6	3	5	1	0	3	5	2	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:130313143G>C	ENST00000358511.6	+	17	4520	c.4489G>C	c.(4489-4491)Ggg>Cgg	p.G1497R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1497R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1497	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGGAAGAGAGGGACTCCTGG	0.463																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4489-4491)Ggg>Cgg		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							72	77	76					3																	130313143		1861	4086	5947	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130313143G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4489G>C	3.37:g.130313143G>C	ENSP00000351310:p.Gly1497Arg					COL6A6_uc003eni.4_5'UTR	p.G1497R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			16	4520	+			1497			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4489G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658194	0.67586	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.99637	-6.29;-6.29	5.17	5.17	0.71159	.	0.000000	0.39146	N	0.001442	D	0.99809	0.9917	H	0.98295	4.195	0.43103	D	0.994798	D	0.89917	1.0	D	0.91635	0.999	D	0.96837	0.9615	10	0.87932	D	0	.	15.9514	0.79843	0.0:0.0:1.0:0.0	.	1497	A6NMZ7	CO6A6_HUMAN	R	1497	ENSP00000351310:G1497R;ENSP00000399236:G1497R	ENSP00000351310:G1497R	G	+	1	0	COL6A6	131795833	1.000000	0.71417	0.683000	0.30040	0.650000	0.38633	5.478000	0.66806	2.575000	0.86900	0.650000	0.86243	GGG		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		C	130313143	G	C	130313143	3	2	171	1	0	0	0	0	1	0	0	0	3703	1000	35	5	4555	5	COL6A6	3	130313143	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	8309893	130313143	67709287	12	12163											
TP63	8626	broad.mit.edu	37	chr3	189587160	189587160	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgacatccatcaagaaaCgaagatccccagatgatgaa	18	6	8	9	1	1	7	1	3	0	4	3	8	3	7	3	0	1	0	3	0	4	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:189587160C>T	ENST00000264731.3	+	9	1266	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	TP63_ENST00000392460.3_Nonsense_Mutation_p.R393*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R308*|TP63_ENST00000354600.5_Nonsense_Mutation_p.R299*|TP63_ENST00000437221.1_Nonsense_Mutation_p.R299*|TP63_ENST00000392461.3_Nonsense_Mutation_p.R299*|TP63_ENST00000440651.2_Nonsense_Mutation_p.R389*|TP63_ENST00000320472.5_Nonsense_Mutation_p.R393*|TP63_ENST00000392463.2_Nonsense_Mutation_p.R299*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R295*|TP63_ENST00000418709.2_Nonsense_Mutation_p.R393*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R214*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	393					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCAAGAAACGAAGATCCCC	0.413										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1177-1179)Cga>Tga		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							157	131	140					3																	189587160		2203	4300	6503	SO:0001587	stop_gained	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189587160C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1177C>T	3.37:g.189587160C>T	ENSP00000264731:p.Arg393*	HNSCC(45;0.13)				TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc021xir.1_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270*	p.R393*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1266	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		393					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	c.1177C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281204	0.95489	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3339	12.7517	0.57312	0.1744:0.8256:0.0:0.0	.	.	.	.	X	393;393;393;393;389;308;299;299;299;299;214;295	.	.	R	+	1	2	TP63	191069854	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.360000	0.52299	2.766000	0.95052	0.655000	0.94253	CGA		0.413	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189587160	C	T	189587160	4	4	171	1	0	0	0	0	0	1	0	0	16389	528	19	1	1257	1	TP63	3	189587160	Nonsense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	59274017	189587160	8435270	13	12164											
FYTTD1	84248	broad.mit.edu	37	chr3	197497100	197497100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttctcaagagacctaGccagctaagcagaaagtaag	16	6	10	9	0	1	2	1	0	1	2	2	3	1	2	2	0	4	5	2	0	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:197497100G>T	ENST00000241502.4	+	4	704	c.482G>T	c.(481-483)aGc>aTc	p.S161I	FYTTD1_ENST00000428395.2_Missense_Mutation_p.S70I|FYTTD1_ENST00000424384.2_Missense_Mutation_p.S94I|FYTTD1_ENST00000415708.2_Missense_Mutation_p.S135I	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	161					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAGAGACCTAGCCAGCTAAGC	0.363																																						uc003fyi.2																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(481-483)aGc>aTc		Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.							67	64	65					3																	197497100		2203	4300	6503	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197497100G>T	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"UAP56-interacting factor"					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.482G>T	3.37:g.197497100G>T	ENSP00000241502:p.Ser161Ile					FYTTD1_uc011bui.1_Missense_Mutation_p.S135I|FYTTD1_uc011buj.1_Intron|FYTTD1_uc011buk.1_Missense_Mutation_p.S94I	p.S161I	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	3	701	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	161					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.482G>T	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	G	9.607	1.130352	0.21041	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.71	4.55	0.56014	.	0.263259	0.44483	D	0.000449	T	0.21387	0.0515	N	0.08118	0	0.20563	N	0.999883	B;B	0.20459	0.045;0.022	B;B	0.26614	0.062;0.071	T	0.19063	-1.0317	10	0.21540	T	0.41	-11.2916	7.0237	0.24928	0.7342:0.1875:0.0782:0.0	.	135;161	Q96QD9-2;Q96QD9	.;UIF_HUMAN	I	94;135;70;161;94	ENSP00000399896:S94I;ENSP00000393746:S135I;ENSP00000391157:S70I;ENSP00000241502:S161I;ENSP00000394631:S94I	ENSP00000241502:S161I	S	+	2	0	FYTTD1	198981497	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.246000	0.32803	1.092000	0.41356	-0.429000	0.05907	AGC		0.363	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		T	197497100	G	T	197497100	3	4	171	1	0	0	0	0	1	0	0	0	6127	971	34	5	525	5	FYTTD1	3	197497100	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	7909940	197497100	525330	14	12165											
EGF	1950	broad.mit.edu	37	chr4	110895931	110895931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaaggagaacatctctcaAccacgaggaattgctgttca	14	9	8	10	1	3	1	2	0	1	1	4	4	3	2	1	2	3	2	1	2	4	3			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr4:110895931A>T	ENST00000265171.5	+	12	2242	c.1797A>T	c.(1795-1797)caA>caT	p.Q599H	EGF_ENST00000503392.1_Missense_Mutation_p.Q599H|EGF_ENST00000509793.1_Missense_Mutation_p.Q557H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	599					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ACATCTCTCAACCACGAGGAA	0.388																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1795-1797)caA>caT		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						103	94	97					4																	110895931		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110895931A>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1797A>T	4.37:g.110895931A>T	ENSP00000265171:p.Gln599His					EGF_uc011cfu.2_Missense_Mutation_p.Q557H|EGF_uc011cfv.2_Missense_Mutation_p.Q599H	p.Q599H	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	11	2249	+		Hepatocellular(203;0.0893)	599					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1797A>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	9.333	1.060931	0.19987	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95307	-3.67;-3.67;-3.67	4.94	0.637	0.17735	Six-bladed beta-propeller, TolB-like (1);	0.229367	0.45126	D	0.000389	D	0.91771	0.7397	L	0.51422	1.61	0.35190	D	0.773243	B;B;P	0.35192	0.31;0.079;0.489	B;B;B	0.42495	0.315;0.124;0.389	D	0.88555	0.3119	10	0.59425	D	0.04	.	6.5967	0.22677	0.1523:0.2528:0.5949:0.0	.	599;557;599	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	H	557;599;599	ENSP00000424316:Q557H;ENSP00000265171:Q599H;ENSP00000421384:Q599H	ENSP00000265171:Q599H	Q	+	3	2	EGF	111115380	1.000000	0.71417	0.938000	0.37757	0.066000	0.16364	0.919000	0.28692	-0.141000	0.11374	-0.290000	0.09829	CAA		0.388	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			T	110895931	A	T	110895931	3	4	171	1	0	0	0	0	1	0	0	0	4962	40	2	5	1843	5	EGF	4	110895931	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08		110895931	80258345	15	12166											
C6	729	broad.mit.edu	37	chr5	41196027	41196027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctaactttctggcaaTgcagcggcctagtcaagaaa	12	10	9	10	1	3	1	1	0	2	1	3	1	3	1	1	2	3	3	1	2	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:41196027T>C	ENST00000263413.3	-	5	718	c.454A>G	c.(454-456)Att>Gtt	p.I152V	C6_ENST00000337836.5_Missense_Mutation_p.I152V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	152	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTGGCAATGCAGCGGCCT	0.358																																						uc003jmk.2																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(454-456)Att>Gtt		Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.							149	133	138					5																	41196027		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41196027T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.454A>G	5.37:g.41196027T>C	ENSP00000263413:p.Ile152Val					C6_uc003jml.1_Missense_Mutation_p.I152V	p.I152V	NM_000065	NP_001108603	P13671	CO6_HUMAN			4	664	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	152			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263413.3	37	c.454A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228161	0.79576	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.98012	-4.66;-4.66	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.63208	1.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.98732	1.0713	10	0.48119	T	0.1	-11.1178	14.8558	0.70335	0.0:0.0:0.0:1.0	.	152	P13671	CO6_HUMAN	V	152	ENSP00000338861:I152V;ENSP00000263413:I152V	ENSP00000263413:I152V	I	-	1	0	C6	41231784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.649000	0.54417	2.146000	0.66826	0.528000	0.53228	ATT		0.358	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			C	41196027	T	C	41196027	3	2	171	1	0	0	0	0	1	0	0	0	2315	1464	51	4	2406	4	C6	5	41196027	Missense_Mutation	SNP	T	TCGA-19-5960-01A-11D-1696-08		41196027	139719233	16	12167											
C5orf34	375444	broad.mit.edu	37	chr5	43487196	43487196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatctggtttaggatacCactattttctagtagcacta	13	14	7	7	0	2	1	0	0	2	1	2	2	2	2	1	2	2	3	1	2	7	9	rs544594256		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:43487196C>A	ENST00000306862.2	-	13	2113	c.1738G>T	c.(1738-1740)Ggt>Tgt	p.G580C	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	580										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTTAGGATACCACTATTTTCT	0.313																																						uc003jnz.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(1738-1740)Ggt>Tgt		Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.							47	47	47					5																	43487196		2201	4294	6495	SO:0001583	missense	375444							g.chr5:43487196C>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1738G>T	5.37:g.43487196C>A	ENSP00000303490:p.Gly580Cys						p.G580C	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			12	2140	-	Lung NSC(6;2.07e-05)		580						Missense_Mutation	SNP	ENST00000306862.2	37	c.1738G>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126244	0.37533	.	.	ENSG00000172244	ENST00000306862	T	0.47869	0.83	5.71	3.7	0.42460	.	0.296642	0.30347	N	0.009830	T	0.54159	0.1841	L	0.57536	1.79	0.27250	N	0.958919	D	0.65815	0.995	P	0.60415	0.874	T	0.50004	-0.8878	10	0.72032	D	0.01	-5.8778	4.4522	0.11626	0.0:0.6335:0.0:0.3665	.	580	Q96MH7	CE034_HUMAN	C	580	ENSP00000303490:G580C	ENSP00000303490:G580C	G	-	1	0	C5orf34	43522953	0.986000	0.35501	0.924000	0.36721	0.055000	0.15305	2.090000	0.41682	1.424000	0.47217	0.650000	0.86243	GGT		0.313	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		A	43487196	C	A	43487196	3	1	171	1	0	0	0	0	1	0	0	0	2293	594	21	5	182	5	C5orf34	5	43487196	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	2291169	43487196	137428064	17	12168											
FGFR4	2264	broad.mit.edu	37	chr5	176519769	176519769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcctaccagtctgcctgGctcacggtgctgccaggtga	5	10	11	15	1	3	1	1	1	2	0	4	1	3	1	4	3	4	2	4	3	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:176519769G>A	ENST00000292408.4	+	8	1286	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W347*|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W347*|FGFR4_ENST00000393637.1_Nonsense_Mutation_p.W347*|FGFR4_ENST00000292410.3_Nonsense_Mutation_p.W347*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	347	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGTCTGCCTGGCTCACGGTGC	0.647										TSP Lung(9;0.080)																												uc003mfl.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1039-1041)tgG>tgA		Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	Palifermin(DB00039)						52	50	51					5																	176519769		2203	4300	6503	SO:0001587	stop_gained	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176519769G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1041G>A	5.37:g.176519769G>A	ENSP00000292408:p.Trp347*	TSP Lung(9;0.080)				FGFR4_uc003mfm.3_Nonsense_Mutation_p.W347*|FGFR4_uc011dfu.2_Nonsense_Mutation_p.W347*|FGFR4_uc011dfw.1_Nonsense_Mutation_p.W347*|FGFR4_uc003mfo.3_Nonsense_Mutation_p.W347*	p.W347*	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1208	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	347			Ig-like C2-type 3.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Nonsense_Mutation	SNP	ENST00000292408.4	37	c.1041G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.442042	0.97568	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0496	0.89343	0.0:0.0:1.0:0.0	.	.	.	.	X	347;347;347;347;347;459	.	ENSP00000292408:W347X	W	+	3	0	FGFR4	176452375	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.721000	0.98766	2.425000	0.82216	0.561000	0.74099	TGG		0.647	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			A	176519769	G	A	176519769	4	1	171	1	0	0	0	0	0	1	0	0	5868	1212	42	3	1067	3	FGFR4	5	176519769	Nonsense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	133032573	176519769	4395491	18	12169											
TMEM217	221468	broad.mit.edu	37	chr6	37186701	37186701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaactgccattccctaggtGcttctgttcaaagatgagat	10	12	9	10	0	2	2	1	1	1	2	3	3	3	2	2	1	3	3	2	1	3	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:37186701G>T	ENST00000336655.2	-	2	145	c.106C>A	c.(106-108)Cac>Aac	p.H36N	TMEM217_ENST00000356757.2_Missense_Mutation_p.H36N|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	36						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTCCCTAGGTGCTTCTGTTCA	0.468																																						uc003onl.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(106-108)Cac>Aac		Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.							263	226	239					6																	37186701		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186701G>T		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.106C>A	6.37:g.37186701G>T	ENSP00000338164:p.His36Asn					TMEM217_uc010jwr.3_Missense_Mutation_p.H36N|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.H36N	p.H36N	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN			1	187	-			36					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.106C>A	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665884	0.47677	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.81	-1.81	0.07882	.	.	.	.	.	T	0.30230	0.0758	L	0.43152	1.355	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.54924	0.764;0.764	T	0.34403	-0.9830	8	0.66056	D	0.02	-10.1377	12.5589	0.56269	0.151:0.0:0.849:0.0	.	36;36	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	N	36	.	ENSP00000338164:H36N	H	-	1	0	TMEM217	37294679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.247000	0.08866	-0.443000	0.07180	-0.320000	0.08662	CAC		0.468	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		T	37186701	G	T	37186701	3	4	171	1	0	0	0	0	1	0	0	0	16137	1319	46	5	595	5	TMEM217	6	37186701	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		37186701	133928366	19	12170											
DNAH8	1769	broad.mit.edu	37	chr6	38830180	38830180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggaaaatatgtggtcGtgttcaattgctcagatcaa	11	14	11	5	1	3	1	3	0	0	1	4	2	3	2	0	2	1	3	0	2	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:38830180G>A	ENST00000359357.3	+	42	5859	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1869M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2086M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1869	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGTGGTCGTGTTCAATTG	0.418																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6256-6258)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							150	147	148					6																	38830180		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830180G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5605G>A	6.37:g.38830180G>A	ENSP00000352312:p.Val1869Met					DNAH8_uc003ooe.2_Missense_Mutation_p.V1869M	p.V2086M	NM_001206927	NP_001193856					43	6365	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6256G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.132215	0.94473	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14640	2.49;2.49;2.49	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.50206	-0.8855	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1869	Q96JB1	DYH8_HUMAN	M	2074;2074;1869;1869	ENSP00000333363:V2074M;ENSP00000352312:V1869M;ENSP00000402294:V1869M	ENSP00000333363:V2074M	V	+	1	0	DNAH8	38938158	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GTG		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38830180	G	A	38830180	3	1	171	1	0	0	0	0	1	0	0	0	4607	1145	40	1	5763	1	DNAH8	6	38830180	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	1643479	38830180	132284887	20	12171											
LRFN2	57497	broad.mit.edu	37	chr6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaggtccaccagccccGtcatgttggcaaagtcctgg	7	8	13	13	1	2	0	2	0	0	0	4	0	4	0	5	4	1	2	5	4	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:40400626G>A	ENST00000338305.6	-	2	769	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597																																						uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(226-228)aCg>aTg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.							60	54	56					6																	40400626		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400626G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.227C>T	6.37:g.40400626G>A	ENSP00000345985:p.Thr76Met						p.T76M	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			1	692	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		76					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.227C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966600	0.74131	.	.	ENSG00000156564	ENST00000338305	T	0.58506	0.33	5.76	5.76	0.90799	.	0.091150	0.64402	D	0.000001	T	0.76905	0.4053	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.80551	-0.1332	10	0.72032	D	0.01	.	18.5214	0.90954	0.0:0.0:1.0:0.0	.	76	Q9ULH4	LRFN2_HUMAN	M	76	ENSP00000345985:T76M	ENSP00000345985:T76M	T	-	2	0	LRFN2	40508604	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	8.017000	0.88712	2.736000	0.93811	0.655000	0.94253	ACG		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		A	40400626	G	A	40400626	3	1	171	1	0	0	0	0	1	0	0	0	8938	1145	40	1	2150	1	LRFN2	6	40400626	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	1570446	40400626	130714441	21	12172											
TBP	6908	broad.mit.edu	37	chr6	170880497	170880497	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcaattttccttctaGttatgagccagagttatttc	8	20	6	7	0	1	2	0	1	1	1	3	2	2	2	2	0	2	3	2	0	4	9			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:170880497G>A	ENST00000392092.2	+	7	1124		c.e7-1		TBP_ENST00000540980.1_Splice_Site|TBP_ENST00000230354.6_Splice_Site	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein						cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTTCCTTCTAGTTATGAGCCA	0.318																																						uc003qxu.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.e7-1		Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.							119	112	114					6																	170880497		2203	4298	6501	SO:0001630	splice_region_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170880497G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.846-1G>A	6.37:g.170880497G>A						TBP_uc011ehf.2_Splice_Site_p.S262_splice|TBP_uc003qxt.3_Splice_Site_p.S282_splice	p.S282_splice	NM_003194	NP_001165556	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	7	1125	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	282					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Splice_Site	SNP	ENST00000392092.2	37	c.846_splice	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.999019	0.74818	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091;ENST00000446829	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4018	0.94632	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBP	170722422	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	9.248000	0.95456	2.578000	0.87016	0.655000	0.94253	.		0.318	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	Intron	A	170880497	G	A	170880497	5	1	171	1	0	0	0	0	0	0	1	0	15641	1043	36	3	867	3	TBP	6	170880497	Splice_Site	SNP	G	TCGA-19-5960-01A-11D-1696-08	130479871	170880497	234570	22	12173											
TECPR1	25851	broad.mit.edu	37	chr7	97862242	97862242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcagcggtctgggccGgcgtgatggacagggacagc	7	5	18	11	3	1	1	0	1	1	0	2	3	2	3	2	6	2	1	2	6	0	0	rs375364856		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:97862242G>A	ENST00000447648.2	-	12	2014	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	TECPR1_ENST00000542604.1_Missense_Mutation_p.P502L|TECPR1_ENST00000379795.3_Missense_Mutation_p.P573L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	572					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTCTGGGCCGGCGTGATGGA	0.652																																						uc003upg.3																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1714-1716)cCg>cTg		Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.		G	LEU/PRO	0,4248		0,0,2124	49	56	54		1715	4.1	0.5	7		54	1,8453		0,1,4226	no	missense	TECPR1	NM_015395.1	98	0,1,6350	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	572/1166	97862242	1,12701	2124	4227	6351	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97862242G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1715C>T	7.37:g.97862242G>A	ENSP00000404923:p.Pro572Leu					TECPR1_uc003uph.1_Missense_Mutation_p.P502L	p.P572L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			11	1920	-			572					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1715C>T	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349307	0.82132	0.0	1.18E-4	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.33438	1.42;1.44;1.41	5.0	4.11	0.48088	.	0.056025	0.64402	N	0.000001	T	0.49029	0.1533	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.49409	-0.8943	10	0.72032	D	0.01	-30.0066	12.2046	0.54345	0.0822:0.0:0.9178:0.0	.	502;572	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	572;573;502	ENSP00000404923:P572L;ENSP00000369121:P573L;ENSP00000441121:P502L	ENSP00000369121:P573L	P	-	2	0	TECPR1	97700178	1.000000	0.71417	0.455000	0.27031	0.832000	0.47134	6.706000	0.74649	1.110000	0.41699	0.462000	0.41574	CCG		0.652	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97862242	G	A	97862242	3	1	171	1	0	0	0	0	1	0	0	0	15740	1116	39	2	1842	2	TECPR1	7	97862242	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		97862242	61276421	23	12174											
CYP3A5	1577	broad.mit.edu	37	chr7	99264589	99264589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctccttgagttttcCgctggtgaaggttggagaca	8	13	11	9	1	1	3	1	2	0	1	3	4	3	3	3	3	1	3	3	3	2	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:99264589C>T	ENST00000222982.4	-	5	517	c.418G>A	c.(418-420)Gga>Aga	p.G140R	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.G130R|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	140					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTGAGTTTTCCGCTGGTGAAG	0.413																																						uc003urq.3																			0		p.G140R(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(418-420)Gga>Aga		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.							105	94	98					7																	99264589		2203	4300	6503	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99264589C>T	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.418G>A	7.37:g.99264589C>T	ENSP00000222982:p.Gly140Arg					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G27R|CYP3A7_uc011kiy.2_Missense_Mutation_p.G130R|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	p.G140R	NM_000777	NP_000768	P24462	CP3A7_HUMAN			4	520	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		140					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.418G>A	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835672	0.71373	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.68765	-0.35;-0.35	3.74	2.86	0.33363	.	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.84817	0.0794	10	0.87932	D	0	.	9.4557	0.38753	0.0:0.89:0.0:0.11	.	130;140	F5H4S0;P20815	.;CP3A5_HUMAN	R	140;130	ENSP00000222982:G140R;ENSP00000342969:G130R	ENSP00000222982:G140R	G	-	1	0	CYP3A5	99102525	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.442000	0.59988	0.682000	0.31407	-0.119000	0.15052	GGA		0.413	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			T	99264589	C	T	99264589	3	4	171	1	0	0	0	0	1	0	0	0	4180	661	23	2	1126	2	CYP3A5	7	99264589	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	1402347	99264589	59874074	24	12175											
KIAA1147	57189	broad.mit.edu	37	chr7	141365018	141365018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacctctacctccaggctCtcgatgtcagccacgttcac	8	9	7	17	2	4	0	2	0	2	0	6	2	5	0	4	1	2	2	4	1	1	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:141365018C>G	ENST00000536163.1	-	6	920	c.921G>C	c.(919-921)gaG>gaC	p.E307D	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.E203D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	307										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCTCCAGGCTCTCGATGTCAG	0.602																																						uc003vwk.3																			0		p.I306L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(919-921)gaG>gaC		Homo sapiens KIAA1147 (KIAA1147), mRNA.							74	80	78					7																	141365018		2110	4229	6339	SO:0001583	missense	57189							g.chr7:141365018C>G	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.921G>C	7.37:g.141365018C>G	ENSP00000445768:p.Glu307Asp						p.E307D	NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN			5	921	-	Melanoma(164;0.0171)		307					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.921G>C	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158082	0.21454	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.8	2.89	0.33648	.	0.463345	0.24823	N	0.035307	T	0.15739	0.0379	N	0.10916	0.065	0.27679	N	0.946495	B	0.02656	0.0	B	0.01281	0.0	T	0.28004	-1.0057	9	0.10377	T	0.69	-14.1572	7.1004	0.25333	0.0:0.5184:0.3646:0.1169	.	307	A4D1U4	LCHN_HUMAN	D	307;203	.	ENSP00000297761:E307D	E	-	3	2	KIAA1147	141011487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.565000	0.23578	0.354000	0.24105	0.655000	0.94253	GAG		0.602	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			G	141365018	C	G	141365018	3	3	171	1	0	0	0	0	1	0	0	0	8210	912	32	5	462	5	KIAA1147	7	141365018	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	42100429	141365018	17773645	25	12176											
NOS3	4846	broad.mit.edu	37	chr7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggatggctctgtgcGgggggacccagccaacgtgg	7	5	18	11	2	1	0	0	0	1	0	1	2	1	2	2	6	4	3	2	6	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:150695737G>A	ENST00000484524.1	+	6	785	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q|NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000297494.3_Missense_Mutation_p.R262Q	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTCTGTGCGGGGGGACCCA	0.652																																						uc003wif.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(784-786)cGg>cAg		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						13	13	13					7																	150695737		2178	4274	6452	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150695737G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.785G>A	7.37:g.150695737G>A	ENSP00000420215:p.Arg262Gln					NOS3_uc011kuy.2_Missense_Mutation_p.R56Q|NOS3_uc011kva.2_Missense_Mutation_p.R262Q|NOS3_uc011kuz.2_Missense_Mutation_p.R262Q|NOS3_uc011kvb.2_Missense_Mutation_p.R262Q	p.R262Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1081	+	all_neural(206;0.219)		262			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.785G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.756054	0.49362	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.0	2.0	0.26442	Nitric oxide synthase, oxygenase domain (2);	0.306973	0.22925	N	0.053964	T	0.07908	0.0198	N	0.03608	-0.345	0.30076	N	0.809627	B;B;B;B;B	0.15930	0.001;0.001;0.004;0.002;0.015	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.001;0.0	T	0.09228	-1.0684	10	0.46703	T	0.11	-9.7242	5.7049	0.17903	0.094:0.0:0.4347:0.4713	.	262;262;262;56;262	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	Q	262;56;262;262	ENSP00000297494:R262Q;ENSP00000417143:R56Q;ENSP00000420215:R262Q;ENSP00000420551:R262Q	ENSP00000297494:R262Q	R	+	2	0	NOS3	150326670	0.737000	0.28175	0.956000	0.39512	0.788000	0.44548	2.139000	0.42149	1.225000	0.43566	0.542000	0.68232	CGG		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		A	150695737	G	A	150695737	3	1	171	1	0	0	0	0	1	0	0	0	10544	1116	39	2	807	2	NOS3	7	150695737	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	9330719	150695737	8442926	26	12177											
IMPAD1	54928	broad.mit.edu	37	chr8	57905955	57905955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagccagcatctcgcGcaagtccacggtgcccccat	9	6	9	17	3	1	1	0	1	1	0	3	1	2	1	4	1	3	2	4	1	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:57905955G>A	ENST00000262644.4	-	1	448	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	64					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741																																						uc003xte.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(190-192)Cgc>Tgc		Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.							19	19	19					8																	57905955		2194	4291	6485	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57905955G>A		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.190C>T	8.37:g.57905955G>A	ENSP00000262644:p.Arg64Cys						p.R64C	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			0	476	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	64					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.190C>T	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041267	0.55003	.	.	ENSG00000104331	ENST00000262644	T	0.53423	0.62	5.05	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68526	-0.5385	10	0.66056	D	0.02	-0.0018	6.9727	0.24658	0.0931:0.0:0.7402:0.1667	.	64	Q9NX62	IMPA3_HUMAN	C	64	ENSP00000262644:R64C	ENSP00000262644:R64C	R	-	1	0	IMPAD1	58068509	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.892000	0.56235	1.023000	0.39654	-0.378000	0.06908	CGC		0.741	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		A	57905955	G	A	57905955	3	1	171	1	0	0	0	0	1	0	0	0	7725	1087	38	1	909	1	IMPAD1	8	57905955	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		57905955	88458067	27	12178											
TPD52	7163	broad.mit.edu	37	chr8	80954870	80954870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctttaagttttcgacCttttcttcaaatgatttaaa	10	19	4	8	1	2	1	1	1	1	0	3	2	2	1	2	0	1	1	2	0	4	10			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:80954870C>T	ENST00000379097.3	-	5	902	c.540G>A	c.(538-540)aaG>aaA	p.K180K	TPD52_ENST00000519303.2_Silent_p.K16K|TPD52_ENST00000518937.1_Silent_p.K163K|TPD52_ENST00000537855.1_Silent_p.K180K|TPD52_ENST00000379096.5_Silent_p.K140K|TPD52_ENST00000448733.2_Silent_p.K194K|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000520527.1_Silent_p.K203K|TPD52_ENST00000517427.1_Silent_p.K189K	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	180					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			AGTTTTCGACCTTTTCTTCAA	0.308																																						uc022awn.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(607-609)aaG>aaA		Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.							114	118	117					8																	80954870		2202	4299	6501	SO:0001819	synonymous_variant	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80954870C>T	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.540G>A	8.37:g.80954870C>T						TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Silent_p.K180K|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Silent_p.K194K|TPD52_uc022awp.1_Silent_p.K189K	p.K203K	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		6	931	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	180					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Silent	SNP	ENST00000379097.3	37	c.609G>A	CCDS34912.1																																																																																				0.308	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		T	80954870	C	T	80954870	2	4	171	1	0	0	0	0	0	0	0	1	16394	680	24	3		3	TPD52	8	80954870	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	23048915	80954870	65409152	28	12179											
FBP1	2203	broad.mit.edu	37	chr9	97401548	97401548	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcctccatgacgaagcgGgtcagggtgttgacgtccgt	6	9	13	13	4	1	2	1	2	0	0	4	3	4	2	4	2	1	1	4	2	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:97401548G>C	ENST00000375326.4	-	1	241	c.45C>G	c.(43-45)acC>acG	p.T15T	FBP1_ENST00000415431.1_Silent_p.T15T	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	15					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGACGAAGCGGGTCAGGGTGT	0.667																																					Ovarian(142;590 2466 25593 44496)	uc004auw.4																			0				kidney(1)|liver(1)|lung(1)	3						c.(43-45)acC>acG		Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						38	30	32					9																	97401548		2202	4298	6500	SO:0001819	synonymous_variant	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97401548G>C	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.45C>G	9.37:g.97401548G>C						FBP1_uc010mrl.3_Silent_p.T15T	p.T15T	NM_000507	NP_001121100	P09467	F16P1_HUMAN			0	376	-		Acute lymphoblastic leukemia(62;0.136)	15					O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	c.45C>G	CCDS6712.1																																																																																				0.667	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		C	97401548	G	C	97401548	2	2	171	1	0	0	0	0	0	0	0	1	5705	1219	43	5		5	FBP1	9	97401548	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08		97401548	43811883	29	12180											
TRAF2	7186	broad.mit.edu	37	chr9	139818449	139818449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcggtggcccttcaaccaGaaggtgaggccgtccctgca	7	7	13	14	2	1	2	1	1	0	1	2	2	2	2	4	4	3	1	4	4	2	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:139818449G>A	ENST00000247668.2	+	10	1336	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAF2_ENST00000359662.3_Silent_p.Q480Q|TRAF2_ENST00000536468.1_Silent_p.Q428Q	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	428	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCTTCAACCAGAAGGTGAGGC	0.647																																						uc004cjv.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1282-1284)caG>caA		Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.							59	49	52					9																	139818449		2203	4300	6503	SO:0001819	synonymous_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139818449G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1284G>A	9.37:g.139818449G>A						TRAF2_uc010nbu.3_Silent_p.Q428Q|TRAF2_uc011mek.2_Silent_p.Q417Q|TRAF2_uc010nbw.3_Silent_p.Q403Q	p.Q428Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1341	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	428			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	c.1284G>A	CCDS7013.1																																																																																				0.647	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		A	139818449	G	A	139818449	2	1	171	1	0	0	0	0	0	0	0	1	16435	933	33	3		3	TRAF2	9	139818449	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08	42416901	139818449	1394982	30	12181											
CAMK1D	57118	broad.mit.edu	37	chr10	12802954	12802954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttgccagggtgtccGgtggagagctgtttgaccgg	4	14	15	8	2	1	2	0	1	1	1	2	3	2	2	3	4	2	2	3	4	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:12802954G>A	ENST00000378847.3	+	4	644	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G103S	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGGGTGTCCGGTGGAGAGCT	0.443																																						uc001ilo.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(307-309)Ggt>Agt		Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.							107	105	106					10																	12802954		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12802954G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.307G>A	10.37:g.12802954G>A	ENSP00000368124:p.Gly103Ser					CAMK1D_uc001iln.3_Missense_Mutation_p.G103S	p.G103S	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	3	542	+			103			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.307G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150507	0.78001	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.51071	0.72;0.72	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78597	-0.2142	10	0.87932	D	0	-19.4563	18.8366	0.92165	0.0:0.0:1.0:0.0	.	103;103	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	S	103	ENSP00000368124:G103S;ENSP00000368122:G103S	ENSP00000368122:G103S	G	+	1	0	CAMK1D	12842960	1.000000	0.71417	0.970000	0.41538	0.158000	0.22134	9.869000	0.99810	2.684000	0.91462	0.655000	0.94253	GGT		0.443	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		A	12802954	G	A	12802954	3	1	171	1	0	0	0	0	1	0	0	0	2597	1116	39	2	321	2	CAMK1D	10	12802954	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		12802954	122731793	31	12182											
C10orf76	79591	broad.mit.edu	37	chr10	103716424	103716424	+	Frame_Shift_Del	DEL	G	G	-																															taaagttcatcatagctgctGggggttggcagaaatgtgtc																										TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:103716424delG	ENST00000370033.4	-	22	1754	c.1635delC	c.(1633-1635)cccfs	p.P545fs		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	545						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATAGCTGCTGGGGGTTGGCA	0.408																																						uc009xwy.1																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1633-1635)cccfs		Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.							104	102	103					10																	103716424		1886	4110	5996	SO:0001589	frameshift_variant	79591					integral to membrane		g.chr10:103716424delG	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1635delC	10.37:g.103716424delG	ENSP00000359050:p.Pro545fs					C10orf76_uc009xwx.1_Non-coding_Transcript	p.P545fs	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	21	1737	-		Colorectal(252;0.123)	545					Q2TB87|Q9H8Z9	Frame_Shift_Del	DEL	ENST00000370033.4	37	c.1635delC	CCDS41563.1																																																																																				0.408	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		-	103716424	G	-	103716424	7	5	171	1	0	1	0	1	0	0	0	0	1616	1335	47	0	454	0	C10orf76	10	103716424	Frame_Shift_Del	DEL	G	TCGA-19-5960-01A-11D-1696-08	90913470	103716424	31818323	32	12183											
OR52M1	119772	broad.mit.edu	37	chr11	4566796	4566796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcttttgatcgctacGtggccatctgcaacccacta	8	11	8	14	2	1	1	0	1	1	0	2	1	1	1	3	2	3	3	3	2	3	4	rs61751910	byFrequency	TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:4566796G>A	ENST00000360213.1	+	1	376	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCGCTACGTGGCCATCTG	0.527													G|||	6	0.00119808	0.0045	0	5008	,	,		20791	0		0	False		,,,				2504	0					uc010qyf.2																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(376-378)Gtg>Atg		Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.		G	MET/VAL	12,4390	19.1+/-41.9	0,12,2189	141	124	130		376	3.1	0.7	11	dbSNP_129	130	0,8596		0,0,4298	yes	missense	OR52M1	NM_001004137.1	21	0,12,6487	AA,AG,GG		0.0,0.2726,0.0923	benign	126/318	4566796	12,12986	2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566796G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.376G>A	11.37:g.4566796G>A	ENSP00000353343:p.Val126Met						p.V126M	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	376	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	126						Missense_Mutation	SNP	ENST00000360213.1	37	c.376G>A	CCDS31353.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.336	0.827609	0.16749	0.002726	0.0	ENSG00000197790	ENST00000360213	T	0.20463	2.07	4.98	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000663	T	0.26738	0.0654	M	0.86953	2.85	0.36154	D	0.847649	P	0.35107	0.484	B	0.26770	0.073	T	0.41805	-0.9488	10	0.72032	D	0.01	.	10.9867	0.47526	0.1557:0.0:0.8443:0.0	rs61751910	126	Q8NGK5	O52M1_HUMAN	M	126	ENSP00000353343:V126M	ENSP00000353343:V126M	V	+	1	0	OR52M1	4523372	0.021000	0.18746	0.658000	0.29665	0.074000	0.17049	0.198000	0.17217	0.809000	0.34255	-0.143000	0.13931	GTG		0.527	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		A	4566796	G	A	4566796	3	1	171	1	0	0	0	0	1	0	0	0	11126	1145	40	1	378	1	OR52M1	11	4566796	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		4566796	130439720	33	12184											
GLYAT	10249	broad.mit.edu	37	chr11	58478160	58478160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgccatatagagaatgcGttgtgtttgtttgactttga	9	16	11	5	1	0	3	0	2	0	1	0	4	0	3	1	0	3	4	1	0	3	6	rs200442404	byFrequency	TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:58478160G>A	ENST00000344743.3	-	5	532	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R131C|GLYAT_ENST00000278400.3_Missense_Mutation_p.R131C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	131					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.R131C(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAGAGAATGCGTTGTGTTTGT	0.428													G|||	11	0.00219649	0	0	5008	,	,		20019	0		0	False		,,,				2504	0.0112					uc001nnb.3																			1	Substitution - Missense(1)	p.R131C(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(391-393)Cgc>Tgc		Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)						172	155	161					11																	58478160		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58478160G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.391C>T	11.37:g.58478160G>A	ENSP00000340200:p.Arg131Cys					GLYAT_uc001nnc.3_Missense_Mutation_p.R131C	p.R131C	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			4	546	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	131					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.391C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419945	0.25552	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.16743	2.32;2.32;2.32	5.88	-11.8	0.00035	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.761000	0.02153	N	0.058160	T	0.03739	0.0106	N	0.01122	-1.005	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33394	-0.9870	10	0.22706	T	0.39	-0.0383	4.6346	0.12518	0.1113:0.0801:0.2257:0.5829	.	131;131	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	C	131	ENSP00000340200:R131C;ENSP00000431688:R131C;ENSP00000278400:R131C	ENSP00000278400:R131C	R	-	1	0	GLYAT	58234736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.479000	0.02327	-1.461000	0.01909	-1.147000	0.01851	CGC		0.428	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			A	58478160	G	A	58478160	3	1	171	1	0	0	0	0	1	0	0	0	6479	1145	40	1	511	1	GLYAT	11	58478160	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	53911364	58478160	76528356	34	12185											
GPR83	10888	broad.mit.edu	37	chr11	94113665	94113665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggacgtagcagttgaGggggaaccagcagagggcaa	13	3	19	6	1	0	2	0	1	0	1	0	6	0	5	1	5	3	5	1	5	3	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:94113665G>A	ENST00000243673.2	-	4	1093	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	GPR83_ENST00000539203.2_Missense_Mutation_p.L266F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	308					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGCAGTTGAGGGGGAACCAG	0.532																																						uc001pet.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(922-924)Ctc>Ttc		Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.							146	106	119					11																	94113665		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113665G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.922C>T	11.37:g.94113665G>A	ENSP00000243673:p.Leu308Phe						p.L308F	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			3	1094	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	308					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.922C>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850153	0.71719	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.71579	-0.58;-0.58	5.49	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	L	0.45744	1.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72620	-0.4238	10	0.36615	T	0.2	.	7.4187	0.27059	0.2223:0.0:0.7777:0.0	.	308	Q9NYM4	GPR83_HUMAN	F	308;266	ENSP00000243673:L308F;ENSP00000441550:L266F	ENSP00000243673:L308F	L	-	1	0	GPR83	93753313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.297000	0.59061	2.570000	0.86706	0.655000	0.94253	CTC		0.532	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		A	94113665	G	A	94113665	3	1	171	1	0	0	0	0	1	0	0	0	6713	1000	35	3	353	3	GPR83	11	94113665	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	35635505	94113665	40892851	35	12186											
MPZL2	10205	broad.mit.edu	37	chr11	118133277	118133277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagaaggatggaggcatcGtaccgctcaggattcccatc	11	7	12	11	2	1	1	1	0	0	1	4	5	2	4	2	4	1	3	2	4	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:118133277G>A	ENST00000278937.2	-	3	440	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MPZL2_ENST00000438295.2_Silent_p.Y104Y|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	104	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGGAGGCATCGTACCGCTCAG	0.527																																						uc001psn.3																			0		p.R103Q(1)|p.Y104H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(310-312)taC>taT		Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.							137	103	115					11																	118133277		2200	4296	6496	SO:0001819	synonymous_variant	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133277G>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.312C>T	11.37:g.118133277G>A						MPZL2_uc001pso.3_Silent_p.Y104Y	p.Y104Y	NM_005797	NP_658911	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	695	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	104			Ig-like V-type.		A8K2R1	Silent	SNP	ENST00000278937.2	37	c.312C>T	CCDS8393.1																																																																																				0.527	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		A	118133277	G	A	118133277	2	1	171	1	0	0	0	0	0	0	0	1	9750	1140	40	1		1	MPZL2	11	118133277	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08	24019612	118133277	16873239	36	12187											
FLI1	2313	broad.mit.edu	37	chr11	128680531	128680531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaattacgacaagctgaGccgggccctccgttattact	10	10	9	12	3	0	2	0	2	0	0	1	3	1	2	3	1	4	2	3	1	5	3			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:128680531G>T	ENST00000527786.2	+	9	1496	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	FLI1_ENST00000534087.2_Missense_Mutation_p.S303I|FLI1_ENST00000525560.1_Missense_Mutation_p.S143I|FLI1_ENST00000344954.6_Missense_Mutation_p.S303I|FLI1_ENST00000281428.8_Missense_Mutation_p.S270I	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	336					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GACAAGCTGAGCCGGGCCCTC	0.522			T	EWSR1	Ewing sarcoma																																	uc010sbu.2				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1006-1008)aGc>aTc		Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.							41	47	45					11																	128680531		2198	4296	6494	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680531G>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1007G>T	11.37:g.128680531G>T	ENSP00000433488:p.Ser336Ile					FLI1_uc010sbt.2_Missense_Mutation_p.S143I|FLI1_uc010sbv.2_Missense_Mutation_p.S303I|FLI1_uc009zci.3_Missense_Mutation_p.S270I	p.S336I	NM_002017	NP_001161153	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	8	1350	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	336					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.1007G>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814625	0.70912	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.039891	0.85682	D	0.000000	D	0.87172	0.6111	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91489	0.5210	10	0.87932	D	0	.	18.9143	0.92499	0.0:0.0:1.0:0.0	.	336;143;270	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	I	143;303;336;303;270	ENSP00000437124:S143I;ENSP00000339627:S303I;ENSP00000399985:S336I;ENSP00000432950:S303I;ENSP00000281428:S270I	ENSP00000281428:S270I	S	+	2	0	FLI1	128185741	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.595000	0.98260	2.703000	0.92315	0.650000	0.86243	AGC		0.522	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		T	128680531	G	T	128680531	3	4	171	1	0	0	0	0	1	0	0	0	5924	971	34	5	1041	5	FLI1	11	128680531	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	10547254	128680531	6325985	37	12188											
RASSF9	9182	broad.mit.edu	37	chr12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatcagcagaggtggtgcGtttagtcagcccacagacaa	12	7	12	10	1	2	2	2	0	0	2	2	3	2	2	1	2	3	2	1	2	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr12:86199652G>A	ENST00000361228.3	-	2	504	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453																																						uc001taf.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Cgc>Tgc		Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.							120	119	119					12																	86199652		1938	4168	6106	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199652G>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.136C>T	12.37:g.86199652G>A	ENSP00000354884:p.Arg46Cys						p.R46C	NM_005447	NP_005438	O75901	RASF9_HUMAN			1	475	-			46			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.136C>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900455	0.72754	.	.	ENSG00000198774	ENST00000361228	T	0.52983	0.64	4.82	4.82	0.62117	Ras-association (2);	0.069647	0.64402	D	0.000010	T	0.66287	0.2774	M	0.78916	2.43	0.54753	D	0.999989	D	0.69078	0.997	P	0.57283	0.817	T	0.72769	-0.4193	10	0.87932	D	0	-18.6986	18.2669	0.90055	0.0:0.0:1.0:0.0	.	46	O75901	RASF9_HUMAN	C	46	ENSP00000354884:R46C	ENSP00000354884:R46C	R	-	1	0	RASSF9	84723783	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	6.552000	0.73914	2.397000	0.81536	0.514000	0.50259	CGC		0.453	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			A	86199652	G	A	86199652	3	1	171	1	0	0	0	0	1	0	0	0	13093	1145	40	1	1175	1	RASSF9	12	86199652	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		86199652	47652243	38	12189											
DCLK1	9201	broad.mit.edu	37	chr13	36700120	36700120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcttggccttcttctcgGagctgagcgtctgcagcgtg	3	14	12	12	3	4	1	0	1	4	0	5	2	4	2	1	2	4	2	1	2	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:36700120G>T	ENST00000360631.3	-	2	366	c.155C>A	c.(154-156)tCc>tAc	p.S52Y	DCLK1_ENST00000379892.4_Missense_Mutation_p.S52Y|DCLK1_ENST00000255448.4_Missense_Mutation_p.S52Y			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582																																						uc001uvf.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(154-156)tCc>tAc		Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.							80	74	76					13																	36700120		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700120G>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.155C>A	13.37:g.36700120G>T	ENSP00000353846:p.Ser52Tyr						p.S52Y	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	1	438	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	52					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.155C>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.115792	0.77323	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.87650	-2.28;-2.28;-2.28	5.66	5.66	0.87406	.	0.186050	0.48286	D	0.000191	D	0.89392	0.6702	L	0.52573	1.65	0.46222	D	0.998931	P	0.44380	0.834	P	0.53649	0.731	D	0.89884	0.4032	10	0.72032	D	0.01	.	14.5835	0.68308	0.0:0.0:0.8541:0.1459	.	52	O15075-2	.	Y	52	ENSP00000255448:S52Y;ENSP00000353846:S52Y;ENSP00000369222:S52Y	ENSP00000255448:S52Y	S	-	2	0	DCLK1	35598120	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.344000	0.72991	2.671000	0.90904	0.650000	0.86243	TCC		0.582	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36700120	G	T	36700120	3	4	171	1	0	0	0	0	1	0	0	0	4291	1174	41	5	2102	5	DCLK1	13	36700120	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		36700120	78469758	39	12190											
SLITRK5	26050	broad.mit.edu	37	chr13	88329407	88329407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgggcgtcctagtggaCgaggtgatctgtaaggcgcc	9	8	16	8	3	1	1	0	1	1	0	2	3	2	2	2	4	0	1	2	4	3	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:88329407C>T	ENST00000325089.6	+	2	1983	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	SLITRK5_ENST00000400028.3_Silent_p.D347D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	588	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCTAGTGGACGAGGTGATCT	0.512																																						uc001vln.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1762-1764)gaC>gaT		Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.							161	144	150					13																	88329407		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329407C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1764C>T	13.37:g.88329407C>T						SLITRK5_uc010tic.1_Silent_p.D347D|SLITRK5_uc021rlc.1_Silent_p.D588D	p.D588D	NM_015567	NP_056382	O94991	SLIK5_HUMAN			1	1983	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		588			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1764C>T	CCDS9465.1																																																																																				0.512	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			T	88329407	C	T	88329407	2	4	171	1	0	0	0	0	0	0	0	1	14746	535	19	1		1	SLITRK5	13	88329407	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	51629287	88329407	26840471	40	12191											
CLYBL	171425	broad.mit.edu	37	chr13	100515267	100515267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaaattttcattccActtaaaaggccgaaaacttg	15	11	6	9	1	1	1	1	0	0	1	2	2	2	1	2	1	2	1	2	1	5	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:100515267A>G	ENST00000376360.1	+	4	488	c.461A>G	c.(460-462)cAc>cGc	p.H154R	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.H154R			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	154						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCATTCCACTTAAAAGGC	0.358																																						uc001vok.3																			0		p.F153F(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(460-462)cAc>cGc		Homo sapiens citrate lyase beta like (CLYBL), mRNA.							82	79	80					13																	100515267		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100515267A>G	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.461A>G	13.37:g.100515267A>G	ENSP00000365538:p.His154Arg					CLYBL_uc010tix.2_Missense_Mutation_p.H154R|CLYBL_uc010tiy.2_Intron	p.H154R	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			3	492	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		154					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.461A>G	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843862	0.32606	.	.	ENSG00000125246	ENST00000376360;ENST00000339105;ENST00000416504	T;T;T	0.28666	1.6;1.6;1.6	5.52	5.52	0.82312	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.348037	0.36932	N	0.002332	T	0.15739	0.0379	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.12091	-1.0561	10	0.25106	T	0.35	-16.822	10.3223	0.43773	0.9264:0.0:0.0736:0.0	.	154	Q8N0X4	CLYBL_HUMAN	R	154;154;71	ENSP00000365538:H154R;ENSP00000342991:H154R;ENSP00000403408:H71R	ENSP00000342991:H154R	H	+	2	0	CLYBL	99313268	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.623000	0.67757	2.225000	0.72522	0.460000	0.39030	CAC		0.358	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			G	100515267	A	G	100515267	3	3	171	1	0	0	0	0	1	0	0	0	3573	159	6	4	475	4	CLYBL	13	100515267	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08	12185860	100515267	14654611	41	12192											
TEKT5	146279	broad.mit.edu	37	chr16	10783110	10783110	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaaaagcccttacCgcatctggatatcaattctt	18	10	4	9	1	3	0	1	0	2	0	3	1	3	1	2	1	2	1	2	1	9	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr16:10783110C>T	ENST00000283025.2	-	3	790	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	240						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCCCTTACCGCATCTGGAT	0.413																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.e3+1		Homo sapiens tektin 5 (TEKT5), mRNA.							60	56	58					16																	10783110		2197	4300	6497	SO:0001630	splice_region_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10783110C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.719+1G>A	16.37:g.10783110C>T							p.R240_splice	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			3	791	-			240					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.719_splice	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341612	0.24339	.	.	ENSG00000153060	ENST00000283025	T	0.02837	4.14	5.12	4.17	0.49024	.	0.124853	0.36409	N	0.002615	T	0.06508	0.0167	M	0.74467	2.265	0.32131	N	0.586809	P	0.51933	0.949	P	0.46850	0.529	T	0.07712	-1.0758	9	.	.	.	-32.2934	8.6	0.33738	0.0:0.7652:0.1524:0.0824	.	240	Q96M29	TEKT5_HUMAN	Q	240	ENSP00000283025:R240Q	.	R	-	2	0	TEKT5	10690611	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	0.908000	0.28545	1.282000	0.44496	0.655000	0.94253	CGG		0.413	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	Missense_Mutation	T	10783110	C	T	10783110	5	4	171	1	0	0	0	0	0	0	1	0	15753	666	23	2	758	2	TEKT5	16	10783110	Splice_Site	SNP	C	TCGA-19-5960-01A-11D-1696-08		10783110	79571643	42	12193											
RECQL5	9400	broad.mit.edu	37	chr17	73625102	73625102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccctgtgtacttctctgGggccatcgggggtccctgaa	4	11	12	14	1	1	1	0	1	1	0	5	1	3	1	4	4	1	1	4	4	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr17:73625102G>A	ENST00000317905.5	-	16	2560	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P774S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	801					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACTTCTCTGGGGCCATCGGG	0.647								Other identified genes with known or suspected DNA repair function																														uc010dgl.3																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(2401-2403)Cca>Tca	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.							38	39	39					17																	73625102		1896	4107	6003	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625102G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2401C>T	17.37:g.73625102G>A	ENSP00000317636:p.Pro801Ser					RECQL5_uc010dgk.3_Missense_Mutation_p.P774S|RECQL5_uc002jot.4_5'Flank	p.P801S	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	2610	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		801					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2401C>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464649	0.26335	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.60040	0.22	4.75	2.74	0.32292	RecQ helicase-like 5 (1);	1.374310	0.04343	N	0.354362	T	0.55433	0.1920	L	0.51422	1.61	0.21782	N	0.999541	P;B	0.39717	0.684;0.285	B;B	0.41036	0.346;0.185	T	0.41197	-0.9522	10	0.35671	T	0.21	0.2394	7.3246	0.26547	0.0895:0.0:0.7427:0.1678	.	801;774	O94762;Q6P4G0	RECQ5_HUMAN;.	S	396;801;801	ENSP00000317636:P801S	ENSP00000317636:P801S	P	-	1	0	RECQL5	71136697	0.011000	0.17503	0.006000	0.13384	0.099000	0.18886	1.246000	0.32803	0.602000	0.29896	0.655000	0.94253	CCA		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		A	73625102	G	A	73625102	3	1	171	1	0	0	0	0	1	0	0	0	13203	1232	43	3	594	3	RECQL5	17	73625102	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		73625102	7570108	43	12194											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60036664	60036664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggctcccaagctcagCgagggcaggtgccgggtctg	6	6	18	11	2	2	0	1	0	1	0	3	2	3	1	2	5	3	3	2	5	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr18:60036664C>T	ENST00000586569.1	+	9	1552	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	505					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCAAGCTCAGCGAGGGCAGGT	0.632																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1513-1515)gCg>gTg		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							36	41	40					18																	60036664		1862	3664	5526	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60036664C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1514C>T	18.37:g.60036664C>T	ENSP00000465500:p.Ala505Val					TNFRSF11A_uc010dpv.3_Intron	p.A505V	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			8	1552	+		Colorectal(73;0.188)	505					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.1514C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490938	0.26774	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.03	-1.09	0.09904	.	10.623100	0.00397	N	0.000054	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.04013	0.001	T	0.07158	-1.0787	8	.	.	.	-0.0638	1.0933	0.01668	0.4257:0.2587:0.1225:0.1931	.	505	Q9Y6Q6	TNR11_HUMAN	V	505	.	.	A	+	2	0	TNFRSF11A	58187644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.893000	0.04127	-0.113000	0.11958	-0.244000	0.11960	GCG		0.632	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			T	60036664	C	T	60036664	3	4	171	1	0	0	0	0	1	0	0	0	16281	768	27	1	1548	1	TNFRSF11A	18	60036664	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		60036664	18040584	44	12195											
CREB3L3	84699	broad.mit.edu	37	chr19	4171806	4171806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcttccaggacaccgCgaacctgaccaattcgacgg	9	6	12	14	4	0	1	0	1	0	0	2	4	1	2	4	4	1	1	4	4	2	2	rs148141076		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:4171806C>T	ENST00000078445.2	+	10	1373	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	CREB3L3_ENST00000595923.1_Missense_Mutation_p.A408V|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A407V|CREB3L3_ENST00000252587.3_Nonsense_Mutation_p.R298*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	409					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACACCGCGAACCTGACC	0.677																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(1225-1227)gCg>gTg		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		C	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	41	47	45		1226	-6.2	0	19	dbSNP_134	45	0,8598		0,0,4299	no	missense	CREB3L3	NM_032607.1	64	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	409/462	4171806	1,13001	2202	4299	6501	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171806C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1226C>T	19.37:g.4171806C>T	ENSP00000078445:p.Ala409Val					CREB3L3_uc002lzm.3_Missense_Mutation_p.A399V|CREB3L3_uc010xib.2_Missense_Mutation_p.A398V|CREB3L3_uc010xic.2_3'UTR	p.A409V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1342	+			409					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.1226C>T	CCDS12121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865327|2.865327	0.51588|0.51588	2.27E-4|2.27E-4	0.0|0.0	ENSG00000060566|ENSG00000060566	ENST00000078445;ENST00000381943|ENST00000252587	D|.	0.82619|.	-1.63|.	3.6|3.6	-6.24|-6.24	0.02046|0.02046	.|.	2.456720|.	0.02248|.	N|.	0.066365|.	T|.	0.10551|.	0.0258|.	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B|.	0.14438|.	0.006;0.01;0.006|.	B;B;B|.	0.06405|.	0.001;0.002;0.001|.	T|.	0.32745|.	-0.9895|.	10|.	0.17369|0.02654	T|T	0.5|1	-21.9456|-21.9456	1.5166|1.5166	0.02507|0.02507	0.1486:0.2267:0.1472:0.4776|0.1486:0.2267:0.1472:0.4776	.|.	407;408;409|.	B7ZL69;Q68CJ9-2;Q68CJ9|.	.;.;CR3L3_HUMAN|.	V|X	409;367|298	ENSP00000078445:A409V|.	ENSP00000078445:A409V|ENSP00000252587:R298X	A|R	+|+	2|1	0|2	CREB3L3|CREB3L3	4122806|4122806	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.848000|-2.848000	0.00733|0.00733	-0.913000|-0.913000	0.03832|0.03832	-0.459000|-0.459000	0.05422|0.05422	GCG|CGA		0.677	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		T	4171806	C	T	4171806	3	4	171	1	0	0	0	0	1	0	0	0	3858	768	27	1	1264	1	CREB3L3	19	4171806	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		4171806	54957177	45	12196											
LILRA6	79168	broad.mit.edu	37	chr19	54744788	54744788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatagcacctgtactggcCcccgtgggaggggctcacag	8	6	13	14	1	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:54744788C>T	ENST00000396365.2	-	5	913	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	LILRA6_ENST00000419410.2_Missense_Mutation_p.G292S|LILRA6_ENST00000440558.2_Missense_Mutation_p.G292S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G292S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	292	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTACTGGCCCCCGTGGGAG	0.682																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							54	66	62					19																	54744788		2203	4300	6503	SO:0001583	missense	79168				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54744788C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.874G>A	19.37:g.54744788C>T	ENSP00000379651:p.Gly292Ser					LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.G292S|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc010yep.1_Missense_Mutation_p.G292S|LILRB3_uc010yeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.G292S|LILRB3_uc002qev.1_Missense_Mutation_p.G153S		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638826	0.29157	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.01548	4.78;4.78;4.78;4.78	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125811	0.35525	N	0.003146	T	0.14527	0.0351	H	0.97564	4.03	0.29884	N	0.825762	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.976;0.999	T	0.05582	-1.0876	10	0.87932	D	0	.	7.7785	0.29051	0.0:1.0:0.0:0.0	.	292;292;292;292	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	S	292	ENSP00000390120:G292S;ENSP00000411227:G292S;ENSP00000379651:G292S;ENSP00000245621:G292S	ENSP00000245621:G292S	G	-	1	0	LILRA6	59436600	0.015000	0.18098	0.269000	0.24586	0.037000	0.13140	1.490000	0.35573	1.507000	0.48752	0.162000	0.16502	GGC		0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744788	C	T	54744788	3	4	171	1	0	0	0	0	1	0	0	0	8789	623	22	3	587	3	LILRA6	19	54744788	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	50572982	54744788	4384195	46	12197											
ADNP	23394	broad.mit.edu	37	chr20	49508976	49508976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcataggaatcatcttcatGacccttggggtctaaagcta	11	13	8	9	0	5	1	3	1	2	0	5	2	5	2	1	3	1	1	1	3	5	6			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:49508976G>T	ENST00000396029.3	-	5	2842	c.2275C>A	c.(2275-2277)Cat>Aat	p.H759N	ADNP_ENST00000371602.4_Missense_Mutation_p.H759N|ADNP_ENST00000396032.3_Missense_Mutation_p.H759N|ADNP_ENST00000349014.3_Missense_Mutation_p.H759N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	759					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCATCTTCATGACCCTTGGGG	0.418																																						uc002xvt.1																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2275-2277)Cat>Aat		Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.							74	75	74					20																	49508976		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508976G>T	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2275C>A	20.37:g.49508976G>T	ENSP00000379346:p.His759Asn					ADNP_uc002xvu.1_Missense_Mutation_p.H759N	p.H759N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN			4	2620	-			759					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.2275C>A	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123479	0.77436	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	6.07	0.98685	Homeobox (1);Homeodomain-like (1);	0.188590	0.56097	D	0.000023	T	0.50837	0.1639	N	0.22421	0.69	0.47153	D	0.999334	P	0.42827	0.791	B	0.41236	0.351	T	0.53251	-0.8465	9	0.56958	D	0.05	-12.2836	20.6593	0.99626	0.0:0.0:1.0:0.0	.	759	Q9H2P0	ADNP_HUMAN	N	759	.	ENSP00000342905:H759N	H	-	1	0	ADNP	48942383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.505000	0.60421	2.885000	0.99019	0.655000	0.94253	CAT		0.418	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		T	49508976	G	T	49508976	3	4	171	1	0	0	0	0	1	0	0	0	323	1290	45	5	1037	5	ADNP	20	49508976	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		49508976	13516544	47	12198											
ATP9A	10079	broad.mit.edu	37	chr20	50313988	50313988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacgatgataaggtctccaActtggatgttagaactcttc	12	12	8	9	1	2	2	0	1	2	1	4	4	2	3	1	2	3	1	1	2	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:50313988A>G	ENST00000338821.5	-	5	734	c.470T>C	c.(469-471)gTt>gCt	p.V157A	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	157					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGTCTCCAACTTGGATGTT	0.418																																						uc002xwg.1																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(469-471)gTt>gCt		Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.							262	243	250					20																	50313988		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50313988A>G	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.470T>C	20.37:g.50313988A>G	ENSP00000342481:p.Val157Ala					ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	p.V157A	NM_006045	NP_006036	O75110	ATP9A_HUMAN			4	470	-			157					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.470T>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026867	0.75390	.	.	ENSG00000054793	ENST00000338821	D	0.91996	-2.95	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96611	0.8894	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97472	1.0041	10	0.87932	D	0	-22.2655	14.7939	0.69863	1.0:0.0:0.0:0.0	.	157	O75110	ATP9A_HUMAN	A	157	ENSP00000342481:V157A	ENSP00000342481:V157A	V	-	2	0	ATP9A	49747395	1.000000	0.71417	0.735000	0.30896	0.616000	0.37450	8.671000	0.91174	1.889000	0.54706	0.533000	0.62120	GTT		0.418	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		G	50313988	A	G	50313988	3	3	171	1	0	0	0	0	1	0	0	0	1198	43	2	4	2769	4	ATP9A	20	50313988	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08	805012	50313988	12711532	48	12199											
RCAN1	1827	broad.mit.edu	37	chr21	35890504	35890504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcactctcacatacatggaCcaccacgctgggagtggtgt	10	9	10	12	1	2	0	2	0	1	0	3	2	2	2	2	3	1	1	2	3	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr21:35890504C>T	ENST00000313806.4	-	4	767	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	RCAN1_ENST00000443408.2_Missense_Mutation_p.V78I|RCAN1_ENST00000481448.1_Missense_Mutation_p.V203I|RCAN1_ENST00000381135.3_Missense_Mutation_p.V203I|RCAN1_ENST00000487990.1_Missense_Mutation_p.V78I|RCAN1_ENST00000482533.1_Missense_Mutation_p.V78I|RCAN1_ENST00000381132.2_Missense_Mutation_p.V158I|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.V132I	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	213					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CATACATGGACCACCACGCTG	0.493																																						uc002yue.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(637-639)Gtc>Atc		Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.							113	101	105					21																	35890504		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35890504C>T		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"Down syndrome critical region gene 1"	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.637G>A	21.37:g.35890504C>T	ENSP00000320768:p.Val213Ile					RCAN1_uc002yuc.3_Missense_Mutation_p.V132I|RCAN1_uc002yud.3_Missense_Mutation_p.V78I|RCAN1_uc002yub.3_Missense_Mutation_p.V158I	p.V213I	NM_004414	NP_004405	P53805	RCAN1_HUMAN			3	709	-			213					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.637G>A	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945601	0.73672	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.69	5.69	0.88448	.	0.052983	0.85682	D	0.000000	T	0.76751	0.4031	L	0.54323	1.7	0.80722	D	1	D;B;D	0.63046	0.972;0.154;0.992	P;B;D	0.77004	0.823;0.019;0.989	T	0.75522	-0.3288	9	0.49607	T	0.09	-11.4874	19.4097	0.94665	0.0:1.0:0.0:0.0	.	213;132;158	P53805;P53805-3;Q6FGP2	RCAN1_HUMAN;.;.	I	78;213;158;132;203;78;203;78	.	ENSP00000320768:V213I	V	-	1	0	RCAN1	34812374	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	4.560000	0.60802	2.682000	0.91365	0.655000	0.94253	GTC		0.493	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			T	35890504	C	T	35890504	3	4	171	1	0	0	0	0	1	0	0	0	13168	507	18	3	125	3	RCAN1	21	35890504	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		35890504	12239391	49	12200											
ZDHHC8	29801	broad.mit.edu	37	chr22	20131184	20131184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctgccctccccgccCggcactccccactcaccatc	5	5	7	24	2	1	0	1	0	0	0	4	0	3	0	8	2	1	1	8	2	0	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr22:20131184C>T	ENST00000334554.7	+	10	2172	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	ZDHHC8_ENST00000405930.3_Silent_p.P677P|ZDHHC8_ENST00000320602.7_Silent_p.P585P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	677					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCCCCGCCCGGCACTCCCC	0.716																																						uc002zrr.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2029-2031)ccC>ccT		Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.							13	14	13					22																	20131184		2184	4290	6474	SO:0001819	synonymous_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20131184C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2031C>T	22.37:g.20131184C>T						ZDHHC8_uc002zrq.3_Silent_p.P677P|ZDHHC8_uc010gsa.3_Silent_p.P483P	p.P677P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN			9	2138	+	Colorectal(54;0.0993)		677					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	c.2031C>T	CCDS13776.1																																																																																				0.716	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		T	20131184	C	T	20131184	2	4	171	1	0	0	0	0	0	0	0	1	17618	639	23	2		2	ZDHHC8	22	20131184	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08		20131184	31173382	50	12201											
PCDH19	57526	broad.mit.edu	37	chrX	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-																															gcctgcgtccacagtatggcCagcagcagcagcaccggcag																										TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(34-36)ctgdel		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.			,,	56,3144		0,40,16,1328,448					,,	5.7	1			6	159,5726		2,89,66,2096,1445	no	coding,coding,coding	PCDH19	NM_020766.2,NM_001184880.1,NM_001105243.1	,,	2,129,82,3424,1893	A1A1,A1R,A1,RR,R		2.7018,1.75,2.3665	,,	,,		215,8870				SO:0001651	inframe_deletion	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663560_99663562delCAG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.34_36delCTG	X.37:g.99663569_99663571delCAG	ENSP00000362125:p.Leu12del					PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del	p.L12del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	1710_1712	-			12					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	In_Frame_Del	DEL	ENST00000373034.4	37	c.34_36delCTG	CCDS55462.1																																																																																				0.665	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		-	99663562	CAG	-	99663560	7	5	171	1	0	1	0	1	0	0	0	0	11514	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-19-5960-01A-11D-1696-08		99663560	55607000	51	12202											
TTLL10	254173	broad.mit.edu	37	chr1	1120451	1120451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacgttctggaaggccCggggcctcgccaaggactgg	7	6	16	12	3	1	1	0	1	1	0	2	3	1	3	3	6	0	1	3	6	2	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:1120451C>T	ENST00000379290.1	+	13	1536	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	TTLL10_ENST00000379288.3_Missense_Mutation_p.R382W|TTLL10_ENST00000379289.1_Missense_Mutation_p.R455W			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612																																						uc001acy.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(1363-1365)Cgg>Tgg		Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.							88	69	75					1																	1120451		2203	4300	6503	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1120451C>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1363C>T	1.37:g.1120451C>T	ENSP00000368592:p.Arg455Trp					TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.2_Missense_Mutation_p.R382W	p.R455W	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	1514	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	455			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.1363C>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495670	0.12762	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.15372	3.27;3.27;2.43	4.54	2.08	0.27032	.	0.404445	0.17982	U	0.155491	T	0.27313	0.0670	L	0.35793	1.09	0.25680	N	0.985802	D;D	0.89917	0.998;1.0	P;D	0.68765	0.849;0.96	T	0.05566	-1.0877	10	0.59425	D	0.04	.	9.8485	0.41041	0.6057:0.3943:0.0:0.0	.	382;455	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	W	455;455;382	ENSP00000368592:R455W;ENSP00000368591:R455W;ENSP00000368590:R382W	ENSP00000368590:R382W	R	+	1	2	TTLL10	1110314	0.999000	0.42202	0.737000	0.30932	0.151000	0.21798	4.204000	0.58460	0.232000	0.21100	-0.309000	0.09137	CGG		0.612	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		T	1120451	C	T	1120451	3	4	172	1	0	0	0	0	1	0	0	0	16720	643	23	2	1401	2	TTLL10	1	1120451	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		1120451	248130170	1	12203											
ADC	113451	broad.mit.edu	37	chr1	33583680	33583681	+	Frame_Shift_Ins	INS	-	-	C																															ccccttttgggggacccaggINScctgccacatcacctatgcc																										TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:33583680_33583681insC	ENST00000294517.6	+	11	1794_1795	c.1207_1208insC	c.(1207-1209)gccfs	p.A403fs	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.A423fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.A403fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.A423fs	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		403					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GGGGACCCAGGCCTGCCACATC	0.614																																						uc009vug.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1267-1269)gccfs		Homo sapiens arginine decarboxylase (ADC), mRNA.	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583680_33583681insC																												ENST00000294517.6:c.1209dupC	1.37:g.33583682_33583682dupC	ENSP00000294517:p.Ala403fs					ADC_uc001bwr.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bws.3_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs	p.A423fs	NM_052998	NP_443724	Q96A70	ADC_HUMAN			7	1339_1340	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	403					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1267_1268insC	CCDS375.1																																																																																				0.614	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			C	33583681	-	C	33583680	7	5	172	1	0	1	1	0	0	0	0	0	287	1203	42	0	1237	0	ADC	1	33583680	Frame_Shift_Ins	INS	-	TCGA-26-1439-01A-01D-1353-08	32463229	33583680	215666941	2	12204											
TCHH	7062	broad.mit.edu	37	chr1	152081494	152081494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgctcgcgctcctggcagCgcagctgctgttcctcctta	3	12	11	15	3	0	0	0	0	0	0	4	0	3	0	3	1	4	8	3	1	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:152081494C>T	ENST00000368804.1	-	2	4198	c.4199G>A	c.(4198-4200)cGc>cAc	p.R1400H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.		keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1400P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCAGCGCAGCTGCTG	0.587																																						uc009wne.1																			1	Substitution - Missense(1)	p.R1400P(2)	kidney(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4198-4200)cGc>cAc		Homo sapiens trichohyalin (TCHH), mRNA.							55	58	57					1																	152081494		1857	4100	5957	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081494C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4199G>A	1.37:g.152081494C>T	ENSP00000357794:p.Arg1400His					TCHH_uc001ezp.2_Missense_Mutation_p.R1400H	p.R1400H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4471	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1400		R -> P (found in a renal cell carcinoma sample; somatic mutation).	23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4199G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	9.594	1.126894	0.20959	.	.	ENSG00000159450	ENST00000368804	T	0.08546	3.08	3.34	-0.16	0.13375	.	.	.	.	.	T	0.05273	0.0140	L	0.47716	1.5	0.09310	N	1	D	0.64830	0.994	P	0.56563	0.801	T	0.26744	-1.0094	9	0.46703	T	0.11	.	4.0289	0.09700	0.403:0.4736:0.0:0.1234	.	1400	Q07283	TRHY_HUMAN	H	1400	ENSP00000357794:R1400H	ENSP00000357794:R1400H	R	-	2	0	TCHH	150348118	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	-1.941000	0.01542	0.145000	0.18977	0.297000	0.19635	CGC		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081494	C	T	152081494	3	4	172	1	0	0	0	0	1	0	0	0	15697	768	27	1	1636	1	TCHH	1	152081494	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	118497814	152081494	97169127	3	12205											
PCP4L1	654790	broad.mit.edu	37	chr1	161253488	161253488	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccccagcaaccaacCaggcagctggccaagaggaa	16	2	9	14	0	0	1	0	0	0	1	1	2	1	2	5	3	5	3	5	3	5	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:161253488C>T	ENST00000504449.1	+	2	288	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAACCAACCAGGCAGCTGG	0.428																																						uc001gad.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(40-42)Cag>Tag		Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.							53	51	51					1																	161253488		1840	4100	5940	SO:0001587	stop_gained	654790							g.chr1:161253488C>T	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"purkinje cell protein 4 like 1"				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.40C>T	1.37:g.161253488C>T	ENSP00000426296:p.Gln14*						p.Q14*	NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	288	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		14					B2RV24|B9EJG4	Nonsense_Mutation	SNP	ENST00000504449.1	37	c.40C>T	CCDS53412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622308	0.96660	.	.	ENSG00000248485	ENST00000504449	.	.	.	4.94	4.94	0.65067	.	0.215348	0.29964	N	0.010760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5407	0.61672	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000426296:Q14X	Q	+	1	0	PCP4L1	159520112	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.356000	0.34079	2.573000	0.86826	0.561000	0.74099	CAG		0.428	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			T	161253488	C	T	161253488	4	4	172	1	0	0	0	0	0	1	0	0	11599	595	21	3	46	3	PCP4L1	1	161253488	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	9171994	161253488	87997133	4	12206											
NMNAT2	23057	broad.mit.edu	37	chr1	183261948	183261948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaatcagaattctggacGgccagctgacacatgatgag	13	8	10	10	1	2	4	1	3	1	1	3	5	3	5	2	2	1	1	2	2	2	1	rs138225647		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:183261948G>A	ENST00000287713.6	-	3	553	c.219C>T	c.(217-219)gcC>gcT	p.A73A	NMNAT2_ENST00000473046.1_5'Flank|NMNAT2_ENST00000294868.4_Silent_p.A68A	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	73					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AATTCTGGACGGCCAGCTGAC	0.562																																						uc001gqc.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						c.(217-219)gcC>gcT		Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.		G	,	2,4404	4.2+/-10.8	0,2,2201	64	55	58		219,204	-10.5	0.7	1	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NMNAT2	NM_015039.3,NM_170706.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	73/308,68/303	183261948	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183261948G>A	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.219C>T	1.37:g.183261948G>A						NMNAT2_uc001gqb.2_Silent_p.A68A|NMNAT2_uc001gqd.3_5'Flank	p.A73A	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			2	451	-			73					O75067|Q5T1Q3|Q8WU99|Q96QW1	Silent	SNP	ENST00000287713.6	37	c.219C>T	CCDS1353.1																																																																																				0.562	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			A	183261948	G	A	183261948	2	1	172	1	0	0	0	0	0	0	0	1	10499	1103	39	2		2	NMNAT2	1	183261948	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	22008460	183261948	65988673	5	12207											
MFSD2B	388931	broad.mit.edu	37	chr2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtcctcattggcGccgtgcccacctgcatgatc	7	9	8	17	2	2	1	2	1	0	0	4	1	3	1	5	1	2	1	5	1	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:24247038G>A	ENST00000406420.3	+	13	1403	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A463T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	463					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607																																						uc002reo.2																			1	Substitution - Missense(1)	p.A463T(1)	large_intestine(1)	cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1387-1389)Gcc>Acc		Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.							62	72	69					2																	24247038		2109	4231	6340	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247038G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1387G>A	2.37:g.24247038G>A	ENSP00000385527:p.Ala463Thr						p.A463T	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			12	1401	+			463					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1387G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032328	0.54790	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88818	-2.43;-2.43	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.068242	0.56097	U	0.000025	D	0.91570	0.7337	M	0.71581	2.175	0.32785	N	0.501925	D	0.56746	0.977	P	0.52514	0.701	D	0.93483	0.6829	10	0.45353	T	0.12	-12.6105	17.1616	0.86805	0.0:0.0:1.0:0.0	.	463	A6NFX1	MFS2B_HUMAN	T	463	ENSP00000385527:A463T;ENSP00000342501:A463T	ENSP00000342501:A463T	A	+	1	0	MFSD2B	24100542	0.992000	0.36948	0.487000	0.27428	0.752000	0.42762	3.595000	0.54016	2.497000	0.84241	0.456000	0.33151	GCC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		A	24247038	G	A	24247038	3	1	172	1	0	0	0	0	1	0	0	0	9531	1087	38	1	1437	1	MFSD2B	2	24247038	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		24247038	218952335	6	12208											
VAX2	25806	broad.mit.edu	37	chr2	71160172	71160172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtcctcggcctcagcGtcccccccactgccgccccc	2	6	8	25	4	1	0	1	0	0	0	4	0	3	0	9	1	2	1	9	1	0	0	rs144443163	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:71160172G>A	ENST00000234392.2	+	3	743	c.711G>A	c.(709-711)gcG>gcA	p.A237A	ATP6V1B1_ENST00000412314.1_5'Flank|ATP6V1B1_ENST00000234396.4_5'Flank|snoU13_ENST00000459218.1_RNA	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	237					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CGGCCTCAGCGTCCCCCCCAC	0.692													G|||	2	0.000399361	0.0015	0	5008	,	,		12140	0		0	False		,,,				2504	0					uc002shh.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(709-711)gcG>gcA		Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.		G		10,4396	15.5+/-35.6	0,10,2193	23	26	25		711	-6.5	0	2	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous	VAX2	NM_012476.2		0,10,6492	AA,AG,GG		0.0,0.227,0.0769		237/291	71160172	10,12994	2203	4299	6502	SO:0001819	synonymous_variant	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71160172G>A	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.711G>A	2.37:g.71160172G>A						ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	p.A237A	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN			2	743	+			237					Q53Y33	Silent	SNP	ENST00000234392.2	37	c.711G>A	CCDS1911.1																																																																																				0.692	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			A	71160172	G	A	71160172	2	1	172	1	0	0	0	0	0	0	0	1	17132	1132	40	1		1	VAX2	2	71160172	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	46913134	71160172	172039201	7	12209											
EXOC6B	23233	broad.mit.edu	37	chr2	72692422	72692422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaactggtcaatcttcTggtttaagttggtataaatc	11	15	10	5	0	3	0	1	0	2	0	4	1	3	1	0	4	1	4	0	4	7	7			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:72692422T>A	ENST00000272427.6	-	18	1977	c.1847A>T	c.(1846-1848)cAg>cTg	p.Q616L	EXOC6B_ENST00000410104.1_Missense_Mutation_p.Q616L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	616					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTCAATCTTCTGGTTTAAGTT	0.393																																						uc010fep.3																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1846-1848)cAg>cTg		Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.							124	118	120					2																	72692422		1916	4128	6044	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72692422T>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1847A>T	2.37:g.72692422T>A	ENSP00000272427:p.Gln616Leu					EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	p.Q616L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			17	1985	-			616					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.1847A>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929815	0.52759	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.31247	1.5;1.5	5.33	5.33	0.75918	.	0.211887	0.42821	D	0.000657	T	0.36524	0.0970	M	0.76574	2.34	0.49798	D	0.999822	B;B	0.34372	0.451;0.082	B;B	0.33042	0.157;0.059	T	0.32745	-0.9895	10	0.59425	D	0.04	.	14.4082	0.67096	0.0:0.0:0.0:1.0	.	616;616	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	L	616	ENSP00000272427:Q616L;ENSP00000386698:Q616L	ENSP00000272427:Q616L	Q	-	2	0	EXOC6B	72545930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.095000	0.57728	2.139000	0.66308	0.482000	0.46254	CAG		0.393	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		A	72692422	T	A	72692422	3	1	172	1	0	0	0	0	1	0	0	0	5309	1580	55	5	608	5	EXOC6B	2	72692422	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08	1532250	72692422	170506951	8	12210											
SUSD5	26032	broad.mit.edu	37	chr3	33194868	33194868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagggtgctactcttgggcTtcttaacttccacaagaatg	9	13	10	9	0	2	2	0	1	2	1	3	2	3	2	1	2	3	2	1	2	4	5			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:33194868T>C	ENST00000309558.3	-	5	1673	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	419					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCTTGGGCTTCTTAACTTC	0.517																																						uc003cfo.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1255-1257)aAg>aGg		Homo sapiens sushi domain containing 5 (SUSD5), mRNA.							81	89	87					3																	33194868		2004	4161	6165	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194868T>C	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1256A>G	3.37:g.33194868T>C	ENSP00000308727:p.Lys419Arg						p.K419R	NM_015551	NP_056366	O60279	SUSD5_HUMAN			4	1674	-			419						Missense_Mutation	SNP	ENST00000309558.3	37	c.1256A>G	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	T	2.715	-0.267969	0.05716	.	.	ENSG00000173705	ENST00000309558	T	0.09255	3.0	5.22	-0.18	0.13295	.	0.774049	0.12320	N	0.479355	T	0.06554	0.0168	L	0.31926	0.97	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38394	-0.9663	10	0.36615	T	0.2	-6.1513	1.3302	0.02133	0.1331:0.2234:0.1384:0.5052	.	419	O60279	SUSD5_HUMAN	R	419	ENSP00000308727:K419R	ENSP00000308727:K419R	K	-	2	0	SUSD5	33169872	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.353000	0.20130	-0.271000	0.09272	0.528000	0.53228	AAG		0.517	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		C	33194868	T	C	33194868	3	2	172	1	0	0	0	0	1	0	0	0	15408	1609	56	4	637	4	SUSD5	3	33194868	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08		33194868	164827562	9	12211											
SGEF	26084	broad.mit.edu	37	chr3	153867229	153867229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaggaaagaaagagaCaagaggtatgtttctaccga	16	6	13	6	1	1	3	0	0	1	3	1	7	1	5	2	3	1	2	2	3	5	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:153867229C>G	ENST00000356448.4	+	5	1605	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.Q441E	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGAAAGAGACAAGAGGTATG	0.393																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc021xgc.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(1321-1323)Caa>Gaa		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.							67	68	68					3																	153867229		1891	4115	6006	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153867229C>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1321C>G	3.37:g.153867229C>G	ENSP00000348828:p.Gln441Glu					ARHGEF26_uc011bog.1_Missense_Mutation_p.Q441E|ARHGEF26_uc011boh.1_Missense_Mutation_p.Q441E	p.Q441E	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN			4	1605	+			441			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1321C>G	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118732	0.77323	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.34472	1.36;1.36	4.46	4.46	0.54185	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.80508	2.5	0.80722	D	1	D;D	0.64830	0.965;0.994	P;D	0.70716	0.829;0.97	T	0.69168	-0.5216	10	0.87932	D	0	-14.9008	17.263	0.87078	0.0:1.0:0.0:0.0	.	441;441	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	E	441	ENSP00000348828:Q441E;ENSP00000423418:Q441E	ENSP00000348828:Q441E	Q	+	1	0	ARHGEF26	155349919	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.973000	0.70456	2.459000	0.83118	0.561000	0.74099	CAA		0.393	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		G	153867229	C	G	153867229	3	3	172	1	0	0	0	0	1	0	0	0	14205	479	17	5	1335	5	SGEF	3	153867229	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	120672361	153867229	44155201	10	12212											
DCHS2	54798	broad.mit.edu	37	chr4	155219800	155219800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcccggtccaaagcaCgagtggttgagagttctcct	7	12	11	11	2	1	1	0	1	1	1	4	3	3	1	3	2	2	4	3	2	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155219800C>G	ENST00000357232.4	-	18	4300	c.4301G>C	c.(4300-4302)cGt>cCt	p.R1434P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1434	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393																																						uc003inw.2																			0		p.R1434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4300-4302)cGt>cCt		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							88	92	90					4																	155219800		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219800C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4301G>C	4.37:g.155219800C>G	ENSP00000349768:p.Arg1434Pro						p.R1434P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	17	4301	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1434			Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4301G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412849	0.62511	.	.	ENSG00000197410	ENST00000357232	T	0.54279	0.58	5.86	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.246394	0.35320	N	0.003287	T	0.69477	0.3115	M	0.89095	3.005	0.09310	N	1	D	0.64830	0.994	D	0.64776	0.929	T	0.60722	-0.7207	10	0.59425	D	0.04	.	7.2804	0.26308	0.0:0.5906:0.1051:0.3043	.	1434	Q6V1P9	PCD23_HUMAN	P	1434	ENSP00000349768:R1434P	ENSP00000349768:R1434P	R	-	2	0	DCHS2	155439250	0.041000	0.20044	0.042000	0.18584	0.999000	0.98932	0.617000	0.24359	-0.028000	0.13850	0.650000	0.86243	CGT		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155219800	C	G	155219800	3	3	172	1	0	0	0	0	1	0	0	0	4288	536	19	5	4481	5	DCHS2	4	155219800	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		155219800	35934476	11	12213											
DCHS2	54798	broad.mit.edu	37	chr4	155242236	155242236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaacaatactaaaatgtaActttccattataatgttgtt	15	16	4	6	0	0	0	0	0	0	0	1	0	1	0	1	0	4	4	1	0	8	8			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155242236A>G	ENST00000357232.4	-	14	2949	c.2950T>C	c.(2950-2952)Tta>Cta	p.L984L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	984	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAAATGTAACTTTCCATTA	0.328																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2950-2952)Tta>Cta		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							77	79	78					4																	155242236		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155242236A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2950T>C	4.37:g.155242236A>G							p.L984L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	13	2950	-	all_hematologic(180;0.208)	Renal(120;0.0854)	984			Cadherin 8.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.2950T>C	CCDS3785.1																																																																																				0.328	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155242236	A	G	155242236	2	3	172	1	0	0	0	0	0	0	0	1	4288	40	2	4		4	DCHS2	4	155242236	Silent	SNP	A	TCGA-26-1439-01A-01D-1353-08	22436	155242236	35912040	12	12214											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058241	41058241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccagggcgtatccaCggaagtcttcccgatgcagc	7	7	12	15	3	1	0	0	0	1	0	3	2	3	1	4	3	2	2	4	3	2	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:41058241C>T	ENST00000399564.4	-	7	1130	c.680G>A	c.(679-681)cGt>cAt	p.R227H	MROH2B_ENST00000506092.2_De_novo_Start_OutOfFrame	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	227																	GGCGTATCCACGGAAGTCTTC	0.517																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(679-681)cGt>cAt		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							76	74	75					5																	41058241		1921	4125	6046	SO:0001583	missense	133558						binding	g.chr5:41058241C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.680G>A	5.37:g.41058241C>T	ENSP00000382476:p.Arg227His					HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.R227H	p.R227H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	1170	-			227					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.680G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	8.886	0.952879	0.18431	.	.	ENSG00000171495	ENST00000399564	T	0.08370	3.1	5.27	2.2	0.27929	Armadillo-type fold (1);	0.679311	0.13950	N	0.351566	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31166	-0.9953	10	0.49607	T	0.09	.	5.6	0.17349	0.0:0.6298:0.0:0.3702	.	227	Q7Z745	HTRB2_HUMAN	H	227	ENSP00000382476:R227H	ENSP00000382476:R227H	R	-	2	0	HEATR7B2	41093998	0.002000	0.14202	0.450000	0.26969	0.052000	0.14988	0.514000	0.22786	0.729000	0.32403	0.650000	0.86243	CGT		0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41058241	C	T	41058241	3	4	172	1	0	0	0	0	1	0	0	0	7035	536	19	1	4221	1	HEATR7B2	5	41058241	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		41058241	139857019	13	12215											
MAST4	375449	broad.mit.edu	37	chr5	66460510	66460510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcccaagtggtgacGtgagggcctctgtgccacca	7	6	13	15	1	1	2	0	2	1	0	1	2	1	2	6	2	2	0	6	2	1	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:66460510G>A	ENST00000403625.2	+	29	5798	c.5503G>A	c.(5503-5505)Gtg>Atg	p.V1835M	MAST4_ENST00000403666.1_Missense_Mutation_p.V1646M|MAST4_ENST00000405643.1_Missense_Mutation_p.V1656M|MAST4_ENST00000404260.3_Missense_Mutation_p.V1838M|MAST4_ENST00000261569.7_Missense_Mutation_p.V1641M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1838						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGTGGTGACGTGAGGGCCTC	0.562																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5503-5505)Gtg>Atg		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							60	66	64					5																	66460510		1986	4150	6136	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460510G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5503G>A	5.37:g.66460510G>A	ENSP00000385727:p.Val1835Met					MAST4_uc003jut.2_Missense_Mutation_p.V1646M|MAST4_uc003juw.3_Missense_Mutation_p.V1574M|MAST4_uc003jux.3_5'Flank	p.V1835M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	28	5811	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1838					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.5503G>A	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.659|2.659	-0.280196|-0.280196	0.05642|0.05642	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.65364	.|-0.13;-0.13;-0.15;-0.15;-0.13	5.01|5.01	-6.93|-6.93	0.01638|0.01638	.|.	.|0.873887	.|0.09833	.|N	.|0.749936	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18968	.|0.008;0.032	.|B;B	.|0.13407	.|0.004;0.009	T|T	0.28870|0.28870	-1.0030|-1.0030	5|10	.|0.51188	.|T	.|0.08	-0.0334|-0.0334	8.9282|8.9282	0.35655|0.35655	0.5486:0.1822:0.2693:0.0|0.5486:0.1822:0.2693:0.0	.|.	.|1838;1646	.|O15021;O15021-3	.|MAST4_HUMAN;.	H|M	891|1838;1835;1646;1656;1656;1641	.|ENSP00000385048:V1838M;ENSP00000385727:V1835M;ENSP00000384313:V1646M;ENSP00000384099:V1656M;ENSP00000261569:V1641M	.|ENSP00000261569:V1641M	R|V	+|+	2|1	0|0	MAST4|MAST4	66496266|66496266	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.886000|-0.886000	0.04157|0.04157	-1.606000|-1.606000	0.01591|0.01591	-0.251000|-0.251000	0.11542|0.11542	CGT|GTG		0.562	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66460510	G	A	66460510	3	1	172	1	0	0	0	0	1	0	0	0	9327	1145	40	1	5747	1	MAST4	5	66460510	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	25402269	66460510	114454750	14	12216											
TRPC7	57113	broad.mit.edu	37	chr5	135692416	135692416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccagtcctttgtaggcGttcatgcgcgagcgcgagtg	5	10	14	12	6	1	0	1	0	0	0	3	2	2	0	2	1	2	2	2	1	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:135692416G>A	ENST00000513104.1	-	2	942	c.660C>T	c.(658-660)aaC>aaT	p.N220N	TRPC7_ENST00000426057.2_Silent_p.N220N|TRPC7_ENST00000355180.3_Silent_p.N220N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	220					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.N220N(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAGGCGTTCATGCGCG	0.607																																						uc003lbn.2																			2	Substitution - coding silent(2)	p.N220N(3)	NS(2)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(658-660)aaC>aaT		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							50	57	55					5																	135692416		2143	4255	6398	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692416G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.660C>T	5.37:g.135692416G>A						TRPC7_uc010jef.2_Silent_p.N211N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.N220N|TRPC7_uc010jei.2_Silent_p.N220N	p.N220N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	882	-			220					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.660C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	8.513	0.866919	0.17250	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.26	-9.63	0.00544	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70842	-0.4762	4	.	.	.	-22.007	15.4967	0.75658	0.434:0.0:0.566:0.0	.	.	.	.	C	220	.	.	R	-	1	0	TRPC7	135720315	0.372000	0.25064	0.657000	0.29651	0.994000	0.84299	-0.116000	0.10724	-2.153000	0.00793	-0.157000	0.13467	CGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692416	G	A	135692416	2	1	172	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135692416	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	69231906	135692416	45222844	15	12217											
LRRTM2	26045	broad.mit.edu	37	chr5	138209080	138209081	+	Frame_Shift_Ins	INS	-	-	T																															tttctttgtctcccacatggINStaacttgatgagcttattct																								rs555273836	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:138209080_138209081insT	ENST00000274711.6	-	2	1547_1548	c.1169_1170insA	c.(1168-1170)tacfs	p.Y390fs	LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000540387.1_5'Flank	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	390					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCACATGGTAACTTGATGA	0.431																																						uc011cyz.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16						c.(1168-1170)tacfs		Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.																																				SO:0001589	frameshift_variant	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209080_138209081insT	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.1170dupA	5.37:g.138209081_138209081dupT	ENSP00000274711:p.Tyr390fs					CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.3_5'Flank	p.Y390fs	NM_015564	NP_056379	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		1	1626_1627	-			390					A0AVL3|A8K4U9|B7ZLN8|Q7L770	Frame_Shift_Ins	INS	ENST00000274711.6	37	c.1169_1170insA	CCDS47272.1																																																																																				0.431	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			T	138209081	-	T	138209080	7	5	172	1	0	1	1	0	0	0	0	0	9040	1256	44	0	384	0	LRRTM2	5	138209080	Frame_Shift_Ins	INS	-	TCGA-26-1439-01A-01D-1353-08	2516664	138209080	42706180	16	12218											
PCDHA9	9752	broad.mit.edu	37	chr5	140229393	140229393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccttcactgtgggccaCggccagggtgtctgtggagg	4	9	16	12	2	2	0	1	0	1	0	3	1	2	1	3	5	0	0	3	5	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:140229393C>T	ENST00000532602.1	+	1	2346	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHA9_ENST00000378122.3_Missense_Mutation_p.T438M|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTG	0.657																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1312-1314)aCg>aTg		Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.							82	79	80					5																	140229393		2196	4268	6464	SO:0001583	missense	9752				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140229393C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1313C>T	5.37:g.140229393C>T	ENSP00000436042:p.Thr438Met					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.T438M	p.T438M	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2037	+			452			Cadherin 4.		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1313C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.345758	0.24426	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57107	0.42;0.42	3.56	1.69	0.24217	Cadherin (5);Cadherin-like (1);	0.276328	0.17729	U	0.163964	T	0.72503	0.3468	M	0.90922	3.16	0.09310	N	1	D;D	0.89917	0.98;1.0	P;D	0.66196	0.475;0.942	T	0.62627	-0.6814	10	0.72032	D	0.01	.	8.1906	0.31366	0.0:0.617:0.2964:0.0866	.	438;438	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	438	ENSP00000436042:T438M;ENSP00000367362:T438M	ENSP00000367362:T438M	T	+	2	0	PCDHA9	140209577	0.000000	0.05858	0.131000	0.22000	0.108000	0.19459	0.226000	0.17776	0.279000	0.22186	-0.699000	0.03677	ACG		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229393	C	T	140229393	3	4	172	1	0	0	0	0	1	0	0	0	11531	536	19	1	1315	1	PCDHA9	5	140229393	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	2020313	140229393	40685867	17	12219											
RUNX2	860	broad.mit.edu	37	chr6	45390685	45390685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaagaccctgcccgtGgccttcaaggtaagaggcta	11	7	11	12	1	1	2	1	0	0	2	1	2	1	2	3	3	3	3	3	3	5	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr6:45390685G>A	ENST00000371438.1	+	2	772	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RUNX2_ENST00000371432.3_Silent_p.V124V|RUNX2_ENST00000352853.5_Silent_p.V206V|RUNX2_ENST00000541979.1_Silent_p.V206V|RUNX2_ENST00000371436.6_Silent_p.V138V|RUNX2_ENST00000465038.2_Silent_p.V138V|RUNX2_ENST00000359524.5_Silent_p.V124V|RUNX2_ENST00000576263.1_Silent_p.V138V|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	138	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCTGCCCGTGGCCTTCAAGG	0.721																																						uc011dvx.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(412-414)gtG>gtA		Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.							30	34	33					6																	45390685		2203	4299	6502	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390685G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.414G>A	6.37:g.45390685G>A						RUNX2_uc011dvy.2_Silent_p.V138V|RUNX2_uc003oxt.3_Silent_p.V124V	p.V138V	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			2	624	+			138			Runt.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.414G>A	CCDS43467.2																																																																																				0.721	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45390685	G	A	45390685	2	1	172	1	0	0	0	0	0	0	0	1	13748	1335	47	3		3	RUNX2	6	45390685	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08		45390685	125724382	18	12220											
DBNL	28988	broad.mit.edu	37	chr7	44100419	44100419	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgagaacctcatcacGggcatcgaggtgatcgacga	11	5	12	13	5	2	2	2	1	0	1	4	7	2	2	3	2	1	1	3	2	1	0	rs539416356		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:44100419G>T	ENST00000448521.1	+	13	1295	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	DBNL_ENST00000456905.1_Silent_p.T351T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000494774.1_Silent_p.T400T|DBNL_ENST00000490734.2_Silent_p.T305T|DBNL_ENST00000440166.1_Silent_p.T296T|DBNL_ENST00000452943.1_Silent_p.T375T|DBNL_ENST00000468694.1_Silent_p.T408T	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	399	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCTCATCACGGGCATCGAGG	0.587																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.4																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(1195-1197)acG>acT		Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.							126	104	112					7																	44100419		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44100419G>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1197G>T	7.37:g.44100419G>T						DBNL_uc003tjo.4_Silent_p.T400T|DBNL_uc003tjq.4_Silent_p.T408T|DBNL_uc011kbm.2_Silent_p.T375T|DBNL_uc011kbo.2_Silent_p.T300T|DBNL_uc011kbp.2_Silent_p.T351T|DBNL_uc011kbq.2_Silent_p.T324T|DBNL_uc011kbn.2_Silent_p.T296T|DBNL_uc011kbr.2_Silent_p.T348T|DBNL_uc011kbs.2_Silent_p.T304T	p.T399T	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			12	1295	+			399			SH3.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.1197G>T	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.693|8.693	0.907880|0.907880	0.17833|0.17833	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000452661	.|.	.|.	.|.	5.4|5.4	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.46210|0.46210	0.1381|0.1381	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59032|0.59032	-0.7530|-0.7530	4|4	.|.	.|.	.|.	-27.3457|-27.3457	8.8381|8.8381	0.35123|0.35123	0.645:0.1882:0.0985:0.0683|0.645:0.1882:0.0985:0.0683	.|.	.|.	.|.	.|.	W|L	328|107	.|.	.|.	G|R	+|+	1|2	0|0	DBNL|DBNL	44066944|44066944	0.000000|0.000000	0.05858|0.05858	0.190000|0.190000	0.23270|0.23270	0.953000|0.953000	0.61014|0.61014	-1.527000|-1.527000	0.02227|0.02227	-2.831000|-2.831000	0.00339|0.00339	-1.250000|-1.250000	0.01514|0.01514	GGG|CGG		0.587	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		T	44100419	G	T	44100419	2	4	172	1	0	0	0	0	0	0	0	1	4255	1103	39	5		5	DBNL	7	44100419	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08		44100419	115038244	19	12221											
POM121L12	285877	broad.mit.edu	37	chr7	53103950	53103950	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgctaggttcgacgggccgTtgtggttcgaggtctcagac	5	10	16	10	5	1	1	1	0	1	1	4	3	1	1	1	4	0	4	1	4	1	4			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:53103950T>C	ENST00000408890.4	+	1	602	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	196										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGGGCCGTTGTGGTTCGA	0.677																																						uc003tpz.3																			0		p.P195P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(586-588)Ttg>Ctg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							49	57	54					7																	53103950		1975	4148	6123	SO:0001819	synonymous_variant	285877							g.chr7:53103950T>C		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.586T>C	7.37:g.53103950T>C							p.L196L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	602	+			196					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.586T>C	CCDS43584.1																																																																																				0.677	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		C	53103950	T	C	53103950	2	2	172	1	0	0	0	0	0	0	0	1	12241	1722	60	4		4	POM121L12	7	53103950	Silent	SNP	T	TCGA-26-1439-01A-01D-1353-08	9003531	53103950	106034713	20	12222											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	172	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	2129093	55233043	103905620	21	12223											
ADAM22	53616	broad.mit.edu	37	chr7	87760639	87760639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctatggaaacctgggCgactgacaacaagtttgcca	11	9	12	9	1	0	1	0	1	0	0	0	3	0	2	2	3	4	3	2	3	4	3	rs545692266		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:87760639C>T	ENST00000265727.7	+	11	960	c.881C>T	c.(880-882)gCg>gTg	p.A294V	ADAM22_ENST00000398204.4_Missense_Mutation_p.A294V|ADAM22_ENST00000398201.4_Missense_Mutation_p.A294V|ADAM22_ENST00000398209.3_Missense_Mutation_p.A294V|ADAM22_ENST00000439864.1_Missense_Mutation_p.A294V|ADAM22_ENST00000315984.7_Missense_Mutation_p.A294V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	294	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCTGGGCGACTGACAAC	0.358													C|||	1	0.000199681	0	0	5008	,	,		16360	0.001		0	False		,,,				2504	0					uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(880-882)gCg>gTg		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							104	98	100					7																	87760639		1843	4094	5937	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87760639C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.881C>T	7.37:g.87760639C>T	ENSP00000265727:p.Ala294Val					ADAM22_uc003ujj.2_Missense_Mutation_p.A294V|ADAM22_uc003ujk.2_Missense_Mutation_p.A294V|ADAM22_uc003ujl.2_Missense_Mutation_p.A294V|ADAM22_uc003ujm.3_Missense_Mutation_p.A294V|ADAM22_uc003ujo.3_Missense_Mutation_p.A294V|ADAM22_uc003ujp.1_Missense_Mutation_p.A346V	p.A294V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	1096	+	Esophageal squamous(14;0.00202)		294			Peptidase M12B.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.881C>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798210	0.90538	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.48	5.48	0.80851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.053759	0.64402	D	0.000001	T	0.32164	0.0820	L	0.40543	1.245	0.58432	D	0.999997	P;P;P;D;D	0.71674	0.935;0.92;0.935;0.99;0.998	B;B;B;P;D	0.66196	0.334;0.176;0.334;0.513;0.942	T	0.00630	-1.1636	10	0.52906	T	0.07	.	16.0154	0.80434	0.0:0.8656:0.1344:0.0	.	346;294;294;294;294	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1	.;.;ADA22_HUMAN;.;.	V	294;294;294;294;294;294;261	ENSP00000381262:A294V;ENSP00000391334:A294V;ENSP00000381260:A294V;ENSP00000265727:A294V;ENSP00000315900:A294V;ENSP00000381267:A294V;ENSP00000381261:A261V	ENSP00000265727:A294V	A	+	2	0	ADAM22	87598575	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	5.687000	0.68219	2.738000	0.93877	0.591000	0.81541	GCG		0.358	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		T	87760639	C	T	87760639	3	4	172	1	0	0	0	0	1	0	0	0	244	768	27	1	923	1	ADAM22	7	87760639	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	32527596	87760639	71378024	22	12224											
EPHB4	2050	broad.mit.edu	37	chr7	100404060	100404060	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcctgattgctcatgtcCcagtacggcctctccccaaa	8	10	7	16	2	2	1	1	1	1	0	5	1	4	1	5	1	2	2	5	1	2	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100404060C>T	ENST00000358173.3	-	14	2934	c.2466G>A	c.(2464-2466)tgG>tgA	p.W822*	EPHB4_ENST00000360620.3_Nonsense_Mutation_p.W822*	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCATGTCCCAGTACGGCC	0.562																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2464-2466)tgG>tgA		Homo sapiens EPH receptor B4 (EPHB4), mRNA.							186	142	157					7																	100404060		2203	4300	6503	SO:0001587	stop_gained	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404060C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2466G>A	7.37:g.100404060C>T	ENSP00000350896:p.Trp822*					EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	p.W822*	NM_004444	NP_004435	P54760	EPHB4_HUMAN			13	2957	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		822			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	37	c.2466G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	43	9.992249	0.99313	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.44	4.44	0.53790	.	0.000000	0.45361	D	0.000371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5502	0.68059	0.0:1.0:0.0:0.0	.	.	.	.	X	822	.	ENSP00000350896:W822X	W	-	3	0	EPHB4	100241996	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.021000	0.59480	0.455000	0.32223	TGG		0.562	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		T	100404060	C	T	100404060	4	4	172	1	0	0	0	0	0	1	0	0	5177	624	22	3	513	3	EPHB4	7	100404060	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	12643421	100404060	58734603	23	12225											
TAF2	6873	broad.mit.edu	37	chr8	120774701	120774701	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagaagtttttccatatTcaaaaatctggtgatttctt	12	16	7	6	1	3	2	1	1	2	1	4	3	4	3	1	2	0	1	1	2	5	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:120774701T>G	ENST00000378164.2	-	19	2810	c.2512A>C	c.(2512-2514)Aat>Cat	p.N838H	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	838					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTCCATATTCAAAAATCTG	0.333																																						uc003you.3																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2512-2514)Aat>Cat		Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.							68	69	69					8																	120774701		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120774701T>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2512A>C	8.37:g.120774701T>G	ENSP00000367406:p.Asn838His						p.N838H	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	2782	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		838					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2512A>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996588	0.54147	.	.	ENSG00000064313	ENST00000378164	T	0.46819	0.86	5.86	4.69	0.59074	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.70230	-0.4929	10	0.62326	D	0.03	-32.3965	12.3646	0.55222	0.1265:0.0:0.0:0.8735	.	838	Q6P1X5	TAF2_HUMAN	H	838	ENSP00000367406:N838H	ENSP00000367406:N838H	N	-	1	0	TAF2	120843882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	1.021000	0.39600	0.477000	0.44152	AAT		0.333	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		G	120774701	T	G	120774701	3	3	172	1	0	0	0	0	1	0	0	0	15521	1783	62	5	1119	5	TAF2	8	120774701	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08		120774701	25589321	24	12226											
FLJ43860	389690	broad.mit.edu	37	chr8	142505515	142505515	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagccatgttcttgatctTcttgatgatgtacttcaagt	9	17	8	7	0	4	4	1	4	3	0	4	4	4	4	1	0	2	2	1	0	2	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:142505515T>C	ENST00000430863.1	-	0	411					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TTCTTGATCTTCTTGATGATG	0.527																																						uc003ywi.2																			0											c.(331-333)Aag>Gag		Homo sapiens FLJ43860 protein (FLJ43860), mRNA.							131	130	130					8																	142505515		2109	4233	6342			389690						binding	g.chr8:142505515T>C			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505515T>C						FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	p.K111E	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	412	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		111						Missense_Mutation	SNP	ENST00000430863.1	37	c.331A>G		.	.	.	.	.	.	.	.	.	.	T	12.68	2.011363	0.35511	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.6	3.43	0.39272	.	.	.	.	.	T	0.35038	0.0918	N	0.24115	0.695	.	.	.	P	0.49961	0.93	P	0.49683	0.619	T	0.44847	-0.9301	7	0.51188	T	0.08	.	7.3004	0.26418	0.0:0.1045:0.0:0.8955	.	111	Q6ZUA9	.	E	76	.	ENSP00000431031:K111E	K	-	1	0	AC100803.1	142574697	1.000000	0.71417	0.400000	0.26346	0.238000	0.25445	3.712000	0.54875	0.695000	0.31675	-0.411000	0.06167	AAG		0.527	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		C	142505515	T	C	142505515	1	2	172	0	1	0	0	0	0	0	0	0	5930	1792	62	4		4	FLJ43860	8	142505515	RNA	SNP	T	TCGA-26-1439-01A-01D-1353-08	21730814	142505515	3858507	25	12227											
PLEC	5339	broad.mit.edu	37	chr8	144993831	144993831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcctccagcaggagCgcagccgttgtggctctcag	5	7	14	15	3	1	0	1	0	1	0	3	1	2	1	4	2	4	4	4	2	0	1	rs373820763		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:144993831C>T	ENST00000322810.4	-	32	10738	c.10569G>A	c.(10567-10569)gcG>gcA	p.A3523A	PLEC_ENST00000357649.2_Silent_p.A3390A|PLEC_ENST00000354589.3_Silent_p.A3386A|PLEC_ENST00000527096.1_Silent_p.A3409A|PLEC_ENST00000345136.3_Silent_p.A3386A|PLEC_ENST00000356346.3_Silent_p.A3372A|PLEC_ENST00000354958.2_Silent_p.A3364A|PLEC_ENST00000398774.2_Silent_p.A3354A|PLEC_ENST00000436759.2_Silent_p.A3413A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3523	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGCAGGAGCGCAGCCGTTG	0.692																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10567-10569)gcG>gcA		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.		C	,,,,,,,	1,3805		0,1,1902	11	14	13		10239,10116,10092,10569,10062,10158,10170,10158	-9.7	0	8		13	6,7970		0,6,3982	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,7,5884	TT,TC,CC		0.0752,0.0263,0.0594	,,,,,,,	3413/4575,3372/4534,3364/4526,3523/4685,3354/4516,3386/4548,3390/4552,3386/4548	144993831	7,11775	1903	3988	5891	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993831C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10569G>A	8.37:g.144993831C>T						PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	p.A3523A	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	10739	-			3523			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10569G>A	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144993831	C	T	144993831	2	4	172	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144993831	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	2488316	144993831	1370191	26	12228											
FBXL6	26233	broad.mit.edu	37	chr8	145581939	145581939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgcgccgctgtgcgcgggGccgggcggggccgggttcgg	1	4	23	13	9	0	0	0	0	0	0	1	0	0	0	3	7	2	2	3	7	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:145581939G>A	ENST00000331890.5	-	1	233	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.P57S|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	57	F-box.				protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			tgtgcgcggggccgggcgggg	0.791																																						uc003zcb.3																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(169-171)Ccc>Tcc		Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.							2	2	2					8																	145581939		1102	2579	3681	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145581939G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.169C>T	8.37:g.145581939G>A	ENSP00000330098:p.Pro57Ser					C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_Missense_Mutation_p.P57S|FBXL6_uc010mfx.3_5'UTR|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	p.P57S	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		0	245	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		57			F-box.		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.169C>T	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	G	0.258	-1.001530	0.02128	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.21734	1.99;2.0	3.39	-6.78	0.01721	.	1.296930	0.05904	U	0.630436	T	0.07908	0.0198	N	0.11255	0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.20605	-1.0270	10	0.17369	T	0.5	-13.9506	2.7258	0.05213	0.1171:0.1859:0.4326:0.2644	.	57;57	Q8N531;Q8N531-2	FBXL6_HUMAN;.	S	57	ENSP00000403873:P57S;ENSP00000330098:P57S	ENSP00000330098:P57S	P	-	1	0	FBXL6	145552747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.750000	0.04808	-3.483000	0.00154	-3.746000	0.00022	CCC		0.791	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		A	145581939	G	A	145581939	3	1	172	1	0	0	0	0	1	0	0	0	5723	1203	42	3	1486	3	FBXL6	8	145581939	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	588108	145581939	782083	27	12229											
DMRT3	58524	broad.mit.edu	37	chr9	977245	977245	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcagcaggccaacgagAgcttggagagcctcatcccc	9	4	13	15	2	1	2	1	0	0	2	2	4	2	2	5	3	4	3	5	3	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:977245A>G	ENST00000190165.2	+	1	282	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	82					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGCCAACGAGAGCTTGGAGAG	0.731																																						uc003zgw.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(244-246)Agc>Ggc		Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.							29	26	27					9																	977245		2198	4297	6495	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977245A>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.244A>G	9.37:g.977245A>G	ENSP00000190165:p.Ser82Gly						p.S82G	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	0	282	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	82					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.244A>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763287	0.69763	.	.	ENSG00000064218	ENST00000190165	T	0.24538	1.85	4.01	4.01	0.46588	.	0.186145	0.64402	D	0.000017	T	0.47783	0.1464	M	0.70275	2.135	0.58432	D	0.999999	D	0.63880	0.993	D	0.68192	0.956	T	0.51942	-0.8641	10	0.72032	D	0.01	-25.1335	12.9895	0.58610	1.0:0.0:0.0:0.0	.	82	Q9NQL9	DMRT3_HUMAN	G	82	ENSP00000190165:S82G	ENSP00000190165:S82G	S	+	1	0	DMRT3	967245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.088000	0.71371	1.462000	0.47948	0.374000	0.22700	AGC		0.731	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		G	977245	A	G	977245	3	3	172	1	0	0	0	0	1	0	0	0	4587	304	11	4	246	4	DMRT3	9	977245	Missense_Mutation	SNP	A	TCGA-26-1439-01A-01D-1353-08		977245	140236186	28	12230											
CACNA1B	774	broad.mit.edu	37	chr9	141014620	141014620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctttgcccacagcccGtcacagatgccagccccatg	8	7	8	18	1	1	1	1	0	0	1	2	1	2	1	6	0	4	0	6	0	0	1	rs200800510		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:141014620G>A	ENST00000371372.1	+	45	6179	c.6034G>A	c.(6034-6036)Gtc>Atc	p.V2012I	CACNA1B_ENST00000371357.1_Missense_Mutation_p.V2011I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V1206I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V2010I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V2012I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V2013I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2012					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCACAGCCCGTCACAGATGC	0.672																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(6028-6030)Gtc>Atc		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)	G	ILE/VAL	0,4322		0,0,2161	37	60	52		6034	1.3	0	9		52	1,8509		0,1,4254	no	missense	CACNA1B	NM_000718.3	29	0,1,6415	AA,AG,GG		0.0118,0.0,0.0078	benign	2012/2340	141014620	1,12831	2161	4255	6416	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014620G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6034G>A	9.37:g.141014620G>A	ENSP00000360423:p.Val2012Ile					CACNA1B_uc022bqn.1_Missense_Mutation_p.V2010I|CACNA1B_uc004coi.3_Missense_Mutation_p.V1224I	p.V2010I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	43	6173	+	all_cancers(76;0.166)		2012					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.6028G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.406944	0.01155	0.0	1.18E-4	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.78	1.33	0.21861	.	1.379010	0.04758	N	0.425741	T	0.27027	0.0662	N	0.00138	-2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49899	-0.8890	10	0.02654	T	1	.	3.6495	0.08198	0.2499:0.5089:0.2413:0.0	.	2011;2010	B1AQK7;B1AQK6	.;.	I	2012;2012;1206;2010;2011;2013	ENSP00000360423:V2012I;ENSP00000277551:V2012I;ENSP00000277549:V1206I;ENSP00000360414:V2010I;ENSP00000360408:V2011I;ENSP00000360406:V2013I	ENSP00000277549:V1206I	V	+	1	0	CACNA1B	140134441	0.996000	0.38824	0.001000	0.08648	0.092000	0.18411	3.436000	0.52856	0.411000	0.25702	0.491000	0.48974	GTC		0.672	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	141014620	G	A	141014620	3	1	172	1	0	0	0	0	1	0	0	0	2539	1145	40	1	6208	1	CACNA1B	9	141014620	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	140037375	141014620	198811	29	12231											
AKR1C4	1109	broad.mit.edu	37	chr10	5254979	5254979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacccaaactccccagttCttttggaggacccagttctt	8	12	8	13	0	2	0	0	0	2	0	3	3	3	3	4	3	1	2	4	3	1	5			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:5254979C>A	ENST00000380448.1	+	9	956	c.703C>A	c.(703-705)Ctt>Att	p.L235I	AKR1C4_ENST00000263126.1_Missense_Mutation_p.L235I			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	235					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CTCCCCAGTTCTTTTGGAGGA	0.527																																						uc001ihw.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(703-705)Ctt>Att		Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	NADH(DB00157)						43	42	43					10																	5254979		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5254979C>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.703C>A	10.37:g.5254979C>A	ENSP00000369814:p.Leu235Ile						p.L235I	NM_001818	NP_001809	P17516	AK1C4_HUMAN			6	736	+			235					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.703C>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352923	0.24512	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.26223	1.75;1.75	3.3	3.3	0.37823	NADP-dependent oxidoreductase domain (3);	0.117602	0.37906	N	0.001895	T	0.39627	0.1085	L	0.49455	1.56	0.40352	D	0.979141	P	0.48998	0.918	P	0.60068	0.868	T	0.32613	-0.9900	10	0.62326	D	0.03	.	12.0585	0.53548	0.0:1.0:0.0:0.0	.	235	P17516	AK1C4_HUMAN	I	235	ENSP00000369814:L235I;ENSP00000263126:L235I	ENSP00000263126:L235I	L	+	1	0	AKR1C4	5244979	0.381000	0.25140	0.010000	0.14722	0.002000	0.02628	0.866000	0.27954	1.362000	0.46000	0.313000	0.20887	CTT		0.527	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		A	5254979	C	A	5254979	3	1	172	1	0	0	0	0	1	0	0	0	472	913	32	5	729	5	AKR1C4	10	5254979	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		5254979	130279768	30	12232											
HPS6	79803	broad.mit.edu	37	chr10	103825336	103825336	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagcggtccgagtccgTggcagtccggacggccgcca	6	5	15	15	6	1	0	1	0	0	0	4	3	4	1	5	4	1	1	5	4	0	0	rs573488604	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:103825336T>C	ENST00000299238.5	+	1	190	c.105T>C	c.(103-105)cgT>cgC	p.R35R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	35					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCCGAGTCCGTGGCAGTCCGG	0.756									Hermansky-Pudlak syndrome				T|||	8	0.00159744	0	0	5008	,	,		8802	0		0	False		,,,				2504	0.0082					uc001kuj.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(103-105)cgT>cgC		Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.							3	4	4					10																	103825336		1193	2650	3843	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825336T>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.105T>C	10.37:g.103825336T>C							p.R35R	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	0	213	+		Colorectal(252;0.122)	35					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.105T>C	CCDS7527.1																																																																																				0.756	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		C	103825336	T	C	103825336	2	2	172	1	0	0	0	0	0	0	0	1	7343	1683	59	4		4	HPS6	10	103825336	Silent	SNP	T	TCGA-26-1439-01A-01D-1353-08	98570357	103825336	31709411	31	12233											
NPAS4	266743	broad.mit.edu	37	chr11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatgttcctggaagagaCgcccgtggaagacatcttca	12	9	10	10	2	2	2	1	0	1	2	3	5	3	4	2	2	1	1	2	2	3	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:66192484C>T	ENST00000311034.2	+	7	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	708					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612																																						uc001ohx.1																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2122-2124)aCg>aTg		Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.							74	81	78					11																	66192484		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192484C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2123C>T	11.37:g.66192484C>T	ENSP00000311196:p.Thr708Met					NPAS4_uc010rpc.1_Missense_Mutation_p.T498M	p.T708M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			6	2299	+			708					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.2123C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.399943	0.25291	.	.	ENSG00000174576	ENST00000311034	T	0.47177	0.85	4.79	-1.53	0.08611	.	0.701451	0.13527	N	0.381227	T	0.22399	0.0540	N	0.08118	0	0.30657	N	0.75483	B	0.06786	0.001	B	0.04013	0.001	T	0.11036	-1.0604	10	0.87932	D	0	1.0838	4.9632	0.14078	0.1492:0.427:0.0:0.4238	.	708	Q8IUM7	NPAS4_HUMAN	M	708	ENSP00000311196:T708M	ENSP00000311196:T708M	T	+	2	0	NPAS4	65949060	0.116000	0.22171	0.997000	0.53966	0.999000	0.98932	-0.326000	0.07965	-0.093000	0.12396	0.655000	0.94253	ACG		0.612	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66192484	C	T	66192484	3	4	172	1	0	0	0	0	1	0	0	0	10565	536	19	1	2149	1	NPAS4	11	66192484	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		66192484	68814032	32	12234											
CABP4	57010	broad.mit.edu	37	chr11	67225127	67225127	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcacatgctgggggtgCgagagctgcgcatcgccttc	5	7	16	13	5	0	1	0	0	0	1	2	2	0	1	1	3	4	4	1	3	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:67225127C>T	ENST00000325656.5	+	4	702	c.625C>T	c.(625-627)Cga>Tga	p.R209*	CABP4_ENST00000438189.2_Nonsense_Mutation_p.R104*|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	209	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGGGGGTGCGAGAGCTGCG	0.637																																						uc001olo.3																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(625-627)Cga>Tga		Homo sapiens calcium binding protein 4 (CABP4), mRNA.							62	50	54					11																	67225127		2195	4293	6488	SO:0001587	stop_gained	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67225127C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.625C>T	11.37:g.67225127C>T	ENSP00000324960:p.Arg209*					CABP4_uc001oln.3_Nonsense_Mutation_p.R104*	p.R209*	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		3	702	+			209			EF-hand 3.		Q8N4Z2|Q8WWY5	Nonsense_Mutation	SNP	ENST00000325656.5	37	c.625C>T	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409753	0.62399	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	.	.	.	4.58	3.64	0.41730	.	0.066460	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-20.5637	10.5399	0.45026	0.4747:0.5253:0.0:0.0	.	.	.	.	X	104;209	.	ENSP00000324960:R209X	R	+	1	2	CABP4	66981703	0.066000	0.20996	0.930000	0.37139	0.792000	0.44763	1.384000	0.34396	1.223000	0.43536	0.655000	0.94253	CGA		0.637	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			T	67225127	C	T	67225127	4	4	172	1	0	0	0	0	0	1	0	0	2533	760	27	1	639	1	CABP4	11	67225127	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	1032643	67225127	67781389	33	12235											
SORL1	6653	broad.mit.edu	37	chr11	121424742	121424742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctctcaccgggctacGggcagcagtggccctggact	5	8	14	14	2	1	0	1	0	1	0	2	1	1	1	3	4	3	4	3	4	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:121424742G>A	ENST00000260197.7	+	17	2492	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	788					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCGGGCTACGGGCAGCAGTG	0.562																																						uc001pxx.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2362-2364)cGg>cAg		Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.							149	138	142					11																	121424742		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121424742G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2363G>A	11.37:g.121424742G>A	ENSP00000260197:p.Arg788Gln						p.R788Q	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	16	2492	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	788					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2363G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.941793	0.53079	.	.	ENSG00000137642	ENST00000260197	D	0.91124	-2.79	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);	0.624267	0.16062	N	0.231452	T	0.81735	0.4885	N	0.25992	0.78	0.80722	D	1	P	0.44006	0.824	B	0.35688	0.208	T	0.78708	-0.2099	10	0.17832	T	0.49	.	11.8083	0.52169	0.0796:0.0:0.9204:0.0	.	788	Q92673	SORL_HUMAN	Q	788	ENSP00000260197:R788Q	ENSP00000260197:R788Q	R	+	2	0	SORL1	120929952	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.928000	0.56506	2.564000	0.86499	0.561000	0.74099	CGG		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121424742	G	A	121424742	3	1	172	1	0	0	0	0	1	0	0	0	14934	1116	39	2	2429	2	SORL1	11	121424742	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	54199615	121424742	13581774	34	12236											
TFDP1	7027	broad.mit.edu	37	chr13	114294537	114294537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctacgtcggggaggaCgacgaggaggacgatgactt	9	7	17	8	5	0	1	0	1	0	0	2	8	1	5	1	5	1	0	1	5	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr13:114294537C>T	ENST00000375370.5	+	12	1400	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D	TFDP1_ENST00000544902.1_Silent_p.D367D|TFDP1_ENST00000538138.1_Silent_p.D297D	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	396	Asp/Glu-rich (acidic; NCB domain).				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			tcggggaggacgacgaggagg	0.557										TSP Lung(29;0.18)																												uc001vtw.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1186-1188)gaC>gaT		Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.							61	54	56					13																	114294537		2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114294537C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1188C>T	13.37:g.114294537C>T		TSP Lung(29;0.18)				TFDP1_uc010tkd.2_Silent_p.D297D|TFDP1_uc010tke.2_Silent_p.D367D|TFDP1_uc001vty.4_Silent_p.D392D	p.D396D	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		11	1400	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	396			Asp/Glu-rich (acidic; NCB domain).		B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.1188C>T	CCDS9538.1																																																																																				0.557	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		T	114294537	C	T	114294537	2	4	172	1	0	0	0	0	0	0	0	1	15794	535	19	1		1	TFDP1	13	114294537	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08		114294537	875341	35	12237											
CDC42BPB	9578	broad.mit.edu	37	chr14	103523372	103523372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtacttgtcgcggcGcagggccgagtggctgcact	5	7	16	13	5	0	0	0	0	0	0	1	1	0	0	2	4	2	4	2	4	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:103523372G>A	ENST00000361246.2	-	1	427	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGTCGCGGCGCAGGGCCGAG	0.721																																						uc001ymi.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(139-141)Cgc>Tgc		Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.							11	8	9					14																	103523372		2086	4108	6194	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103523372G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.139C>T	14.37:g.103523372G>A	ENSP00000355237:p.Arg47Cys						p.R47C	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	0	371	-		Melanoma(154;0.155)	47						Missense_Mutation	SNP	ENST00000361246.2	37	c.139C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.999796	0.74818	.	.	ENSG00000198752	ENST00000361246	T	0.69435	-0.4	3.15	2.12	0.27331	.	0.293591	0.27664	N	0.018372	T	0.76637	0.4015	M	0.89414	3.03	0.80722	D	1	D	0.71674	0.998	P	0.52481	0.7	T	0.82252	-0.0549	10	0.87932	D	0	.	11.3441	0.49550	0.0:0.1858:0.8142:0.0	.	47	Q9Y5S2	MRCKB_HUMAN	C	47	ENSP00000355237:R47C	ENSP00000355237:R47C	R	-	1	0	CDC42BPB	102593125	0.957000	0.32711	1.000000	0.80357	0.995000	0.86356	1.418000	0.34782	1.478000	0.48253	0.444000	0.29173	CGC		0.721	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103523372	G	A	103523372	3	1	172	1	0	0	0	0	1	0	0	0	3073	1087	38	1	5144	1	CDC42BPB	14	103523372	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		103523372	3826168	36	12238											
KIAA1370	56204	broad.mit.edu	37	chr15	52902145	52902145	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgattttatatcacctatAccactaaagcctagaatatt	14	15	4	8	0	1	2	1	1	0	1	1	2	1	2	3	0	2	0	3	0	9	9			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:52902145A>G	ENST00000261844.7	-	6	1118	c.966T>C	c.(964-966)ggT>ggC	p.G322G	FAM214A_ENST00000546305.2_Silent_p.G329G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	322																	TATCACCTATACCACTAAAGC	0.383																																						uc010ugf.2																			0											c.(985-987)ggT>ggC		Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.							41	36	38					15																	52902145		1827	4081	5908	SO:0001819	synonymous_variant	56204							g.chr15:52902145A>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.966T>C	15.37:g.52902145A>G						FAM214A_uc002acg.4_Silent_p.G322G|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.G234G	p.G329G	NM_019600	NP_062546	Q32MH5	K1370_HUMAN			4	1121	-			322					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.987T>C	CCDS45263.1																																																																																				0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		G	52902145	A	G	52902145	2	3	172	1	0	0	0	0	0	0	0	1	8226	378	14	4		4	KIAA1370	15	52902145	Silent	SNP	A	TCGA-26-1439-01A-01D-1353-08		52902145	49629247	37	12239											
ANPEP	290	broad.mit.edu	37	chr15	90349552	90349552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtacggtctcagcGtcacccggtaggaatcgggt	7	8	17	9	4	2	1	2	1	1	0	4	2	2	2	1	6	2	2	1	6	3	2	rs569385341		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:90349552G>A	ENST00000300060.6	-	2	576	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	88	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CGGTCTCAGCGTCACCCGGTA	0.597																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(262-264)aCg>aTg		Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	Ezetimibe(DB00973)						117	93	101					15																	90349552		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349552G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.263C>T	15.37:g.90349552G>A	ENSP00000300060:p.Thr88Met						p.T88M	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		1	555	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		88			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.263C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923559	0.33908	.	.	ENSG00000166825	ENST00000300060	T	0.02837	4.14	4.74	-8.08	0.01094	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.196930	0.05794	N	0.610875	T	0.03220	0.0094	M	0.68728	2.09	0.09310	N	1	P	0.48230	0.907	B	0.43658	0.426	T	0.32079	-0.9920	10	0.33940	T	0.23	.	0.4847	0.00554	0.2221:0.2032:0.1955:0.3793	.	88	P15144	AMPN_HUMAN	M	88	ENSP00000300060:T88M	ENSP00000300060:T88M	T	-	2	0	ANPEP	88150556	0.000000	0.05858	0.002000	0.10522	0.246000	0.25737	-0.787000	0.04618	-0.942000	0.03695	0.467000	0.42956	ACG		0.597	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			A	90349552	G	A	90349552	3	1	172	1	0	0	0	0	1	0	0	0	710	1145	40	1	2720	1	ANPEP	15	90349552	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	37447407	90349552	12181840	38	12240											
NOD2	64127	broad.mit.edu	37	chr16	50745689	50745689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcagtgctgatgtgccaCcagctttgctcagacacctc	8	10	8	15	0	2	2	2	1	0	1	3	2	2	2	3	0	4	3	3	0	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:50745689C>G	ENST00000300589.2	+	4	1972	c.1867C>G	c.(1867-1869)Cca>Gca	p.P623A	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	623					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGATGTGCCACCAGCTTTGCT	0.582																																						uc002egm.1																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1867-1869)Cca>Gca		Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.							85	68	74					16																	50745689		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745689C>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1867C>G	16.37:g.50745689C>G	ENSP00000300589:p.Pro623Ala					NOD2_uc021tia.1_Missense_Mutation_p.P455A|NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.P623A	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			3	1972	+		all_cancers(37;0.0156)	623					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1867C>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.406174	0.00193	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.68025	-0.3	5.3	-0.334	0.12666	.	0.748570	0.12559	N	0.458301	T	0.56761	0.2007	M	0.76002	2.32	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.43360	-0.9396	10	0.14252	T	0.57	.	3.9682	0.09441	0.2263:0.3829:0.3124:0.0784	.	407;596;623	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	A	596;623	ENSP00000300589:P623A	ENSP00000300589:P623A	P	+	1	0	NOD2	49303190	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.126000	0.15769	-0.299000	0.08909	0.555000	0.69702	CCA		0.582	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		G	50745689	C	G	50745689	3	3	172	1	0	0	0	0	1	0	0	0	10517	507	18	5	1881	5	NOD2	16	50745689	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		50745689	39609064	39	12241											
NUP93	9688	broad.mit.edu	37	chr16	56865910	56865910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaactgaggattacctGtggctgaaggtaggcactgt	12	9	13	7	0	0	2	0	2	0	0	0	4	0	3	1	4	2	3	1	4	5	2	rs531620406		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:56865910G>A	ENST00000308159.5	+	11	1363	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	NUP93_ENST00000542526.1_Silent_p.L291L|NUP93_ENST00000569842.1_Silent_p.L414L|NUP93_ENST00000564887.1_Silent_p.L291L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	414					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGGATTACCTGTGGCTGAAGG	0.502													G|||	1	0.000199681	0	0	5008	,	,		20913	0		0.001	False		,,,				2504	0				Colon(33;610 796 1305 1705 38917)	uc002eka.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1240-1242)ctG>ctA		Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.							139	120	126					16																	56865910		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56865910G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1242G>A	16.37:g.56865910G>A						NUP93_uc002ekb.3_Silent_p.L291L|NUP93_uc010vhi.2_Silent_p.L291L	p.L414L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN			10	1363	+			414					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.1242G>A	CCDS10769.1																																																																																				0.502	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		A	56865910	G	A	56865910	2	1	172	1	0	0	0	0	0	0	0	1	10772	1364	48	3		3	NUP93	16	56865910	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	6120221	56865910	33488843	40	12242											
CDYL2	124359	broad.mit.edu	37	chr16	80718650	80718650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtcctgtaagacaccGtcttggtggccctgtcacct	6	11	12	12	1	2	1	1	0	1	1	3	1	3	1	4	3	0	2	4	3	2	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:80718650G>A	ENST00000570137.2	-	2	556	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CDYL2_ENST00000563890.1_Missense_Mutation_p.T134M|CDYL2_ENST00000562812.1_Missense_Mutation_p.T134M|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.T134M	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	134						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAAGACACCGTCTTGGTGGC	0.537																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(400-402)aCg>aTg		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.							86	90	89					16																	80718650		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718650G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.401C>T	16.37:g.80718650G>A	ENSP00000476295:p.Thr134Met						p.T134M	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			1	506	-			134					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.401C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548031	0.45383	.	.	ENSG00000166446	ENST00000299564	T	0.57436	0.4	5.14	5.14	0.70334	.	0.211907	0.41001	D	0.000968	T	0.47967	0.1474	N	0.14661	0.345	0.45194	D	0.998209	D	0.60575	0.988	P	0.50708	0.648	T	0.54931	-0.8219	10	0.62326	D	0.03	.	17.7803	0.88522	0.0:0.0:1.0:0.0	.	134	Q8N8U2	CDYL2_HUMAN	M	134	ENSP00000299564:T134M	ENSP00000299564:T134M	T	-	2	0	CDYL2	79276151	1.000000	0.71417	0.981000	0.43875	0.401000	0.30781	5.426000	0.66476	2.665000	0.90641	0.591000	0.81541	ACG		0.537	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		A	80718650	G	A	80718650	3	1	172	1	0	0	0	0	1	0	0	0	3186	1145	40	1	1143	1	CDYL2	16	80718650	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	23852740	80718650	9636103	41	12243											
NLRP1	22861	broad.mit.edu	37	chr17	5418262	5418262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagcaccctctcgtactGctcctggctcagcacctgtc	6	9	8	18	1	2	0	1	0	1	0	5	0	3	0	4	1	5	5	4	1	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:5418262G>A	ENST00000572272.1	-	17	4233	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	NLRP1_ENST00000577119.1_Nonsense_Mutation_p.Q1338*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.Q1368*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.Q1382*|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.Q1368*|NLRP1_ENST00000262467.5_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1412	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCTCGTACTGCTCCTGGCTC	0.572																																						uc002gci.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4234-4236)Cag>Tag		Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.							77	80	79					17																	5418262		2139	4254	6393	SO:0001587	stop_gained	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418262G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4234C>T	17.37:g.5418262G>A	ENSP00000460475:p.Gln1412*					NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gck.3_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.Q1338*	p.Q1412*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			16	4789	-		Colorectal(1115;3.48e-05)	1412			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	c.4234C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	38	7.117791	0.98074	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	.	.	.	5.07	0.299	0.15771	.	1.259230	0.05929	N	0.634760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.838	0.40982	0.0797:0.3877:0.5326:0.0	.	.	.	.	X	1412;1382;1368	.	ENSP00000269280:Q1412X	Q	-	1	0	NLRP1	5358986	0.992000	0.36948	0.020000	0.16555	0.283000	0.27025	1.226000	0.32563	0.226000	0.20979	0.650000	0.86243	CAG		0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5418262	G	A	5418262	4	1	172	1	0	0	0	0	0	1	0	0	10471	1328	46	3	254	3	NLRP1	17	5418262	Nonsense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		5418262	75776948	42	12244											
DNAH2	146754	broad.mit.edu	37	chr17	7708677	7708677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatgattcttcgaggcaaCgagcccacatgggcagaggc	10	8	13	10	2	1	2	0	1	1	1	2	4	1	2	1	3	2	3	1	3	2	3	rs200872109		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:7708677C>T	ENST00000572933.1	+	61	10868	c.9408C>T	c.(9406-9408)aaC>aaT	p.N3136N	DNAH2_ENST00000389173.2_Silent_p.N3136N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3136	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3136N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCGAGGCAACGAGCCCACAT	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		19185	0		0	False		,,,				2504	0					uc002giu.1																			1	Substitution - coding silent(1)	p.N3136N(2)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9406-9408)aaC>aaT		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							95	90	92					17																	7708677		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708677C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9408C>T	17.37:g.7708677C>T						DNAH2_uc010cnm.1_Silent_p.N74N	p.N3136N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			59	9422	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3136			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.9408C>T	CCDS32551.1																																																																																				0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7708677	C	T	7708677	2	4	172	1	0	0	0	0	0	0	0	1	4602	535	19	1		1	DNAH2	17	7708677	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	2290415	7708677	73486533	43	12245											
PRPSAP2	5636	broad.mit.edu	37	chr17	18833933	18833933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgtggatatcagcatgatCctttcagaggcgatccgtcg	9	11	11	10	3	2	2	2	1	0	1	5	4	4	3	2	2	1	1	2	2	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:18833933C>T	ENST00000268835.2	+	12	1315	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PRPSAP2_ENST00000536323.1_Silent_p.I258I|PRPSAP2_ENST00000419071.2_Silent_p.I304I|PRPSAP2_ENST00000542013.1_Silent_p.I295I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	344					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCAGCATGATCCTTTCAGAGG	0.448																																						uc002gup.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1030-1032)atC>atT		Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.							118	105	109					17																	18833933		2203	4300	6503	SO:0001819	synonymous_variant	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18833933C>T	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.1032C>T	17.37:g.18833933C>T						PRPSAP2_uc002guo.2_Silent_p.I258I|PRPSAP2_uc010vyi.2_Silent_p.I304I|PRPSAP2_uc010vyj.2_Silent_p.I258I|PRPSAP2_uc010vyk.2_Silent_p.I295I|PRPSAP2_uc002guq.2_Silent_p.I131I	p.I344I	NM_002767	NP_002758	O60256	KPRB_HUMAN			11	1354	+			344					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	37	c.1032C>T	CCDS11200.1																																																																																				0.448	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		T	18833933	C	T	18833933	2	4	172	1	0	0	0	0	0	0	0	1	12582	845	30	3		3	PRPSAP2	17	18833933	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	11125256	18833933	62361277	44	12246											
SLC6A4	6532	broad.mit.edu	37	chr17	28537542	28537542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgatactcacaaaagtcagGgtgaccagggatccaaagaa	17	6	10	8	0	2	3	2	2	0	1	3	4	3	4	2	2	1	0	2	2	5	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:28537542G>A	ENST00000401766.2	-	10	1952	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	SLC6A4_ENST00000261707.3_Silent_p.T480T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	480					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CAAAAGTCAGGGTGACCAGGG	0.582																																						uc002hey.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1438-1440)acC>acT		Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						104	88	93					17																	28537542		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28537542G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1440C>T	17.37:g.28537542G>A						SLC6A4_uc010csg.3_Non-coding_Transcript	p.T480T	NM_001045	NP_001036	P31645	SC6A4_HUMAN			10	1984	-			480					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.1440C>T	CCDS11256.1																																																																																				0.582	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		A	28537542	G	A	28537542	2	1	172	1	0	0	0	0	0	0	0	1	14686	1219	43	3		3	SLC6A4	17	28537542	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	9703609	28537542	52657668	45	12247											
C17orf71	55181	broad.mit.edu	37	chr17	57288448	57288448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccgggaagccaggaggagGacccagtaggtatgttgctg	10	7	16	8	1	0	0	0	0	0	0	0	4	0	4	3	5	3	4	3	5	4	4			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:57288448G>A	ENST00000543872.2	+	2	1300	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.D346N|SMG8_ENST00000578922.1_Missense_Mutation_p.D346N			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	346					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCAGGAGGAGGACCCAGTAGG	0.527																																						uc002ixi.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1036-1038)Gac>Aac		Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.							75	60	65					17																	57288448		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288448G>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1036G>A	17.37:g.57288448G>A	ENSP00000438748:p.Asp346Asn						p.D346N	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			0	1078	+			346					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1036G>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374971	0.82573	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.69040	-0.37;-0.37	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.80482	-0.1363	10	0.66056	D	0.02	-17.328	19.2147	0.93772	0.0:0.0:1.0:0.0	.	346	Q8ND04	SMG8_HUMAN	N	346	ENSP00000300917:D346N;ENSP00000438748:D346N	ENSP00000300917:D346N	D	+	1	0	SMG8	54643230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.471000	0.97696	2.769000	0.95229	0.655000	0.94253	GAC		0.527	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		A	57288448	G	A	57288448	3	1	172	1	0	0	0	0	1	0	0	0	1878	1174	41	3	1038	3	C17orf71	17	57288448	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	28750906	57288448	23906762	46	12248											
ABCA5	23461	broad.mit.edu	37	chr17	67305454	67305454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcatatcaggaaaaaaacGaagttcataggacatggagt	19	8	9	5	1	3	0	3	0	0	0	3	4	3	3	0	3	1	1	0	3	7	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:67305454G>A	ENST00000392676.3	-	4	482	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_ENST00000588877.1_Missense_Mutation_p.R140C|ABCA5_ENST00000392677.2_Missense_Mutation_p.R140C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	140					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GGAAAAAAACGAAGTTCATAG	0.328																																						uc002jif.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(418-420)Cgt>Tgt		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							110	114	113					17																	67305454		2203	4299	6502	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67305454G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.418C>T	17.37:g.67305454G>A	ENSP00000376443:p.Arg140Cys					ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	p.R140C	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN			2	1636	-	Breast(10;3.72e-11)		140					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.418C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987748	0.74589	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.49432	0.78;0.78	5.77	4.77	0.60923	.	0.000000	0.53938	D	0.000057	T	0.67859	0.2938	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69049	-0.5248	9	.	.	.	.	13.6051	0.62041	0.0:0.0:0.6865:0.3135	.	140;140	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	C	140	ENSP00000376444:R140C;ENSP00000376443:R140C	.	R	-	1	0	ABCA5	64817049	0.769000	0.28531	0.968000	0.41197	0.988000	0.76386	1.221000	0.32503	2.728000	0.93425	0.557000	0.71058	CGT		0.328	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		A	67305454	G	A	67305454	3	1	172	1	0	0	0	0	1	0	0	0	35	1058	37	2	4654	2	ABCA5	17	67305454	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	10017006	67305454	13889756	47	12249											
RECQL5	9400	broad.mit.edu	37	chr17	73626864	73626864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgtctcttaccttcaCagtcagcctggggatcctcc	5	11	8	17	1	3	0	2	0	1	0	6	1	5	1	5	2	3	0	5	2	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73626864C>G	ENST00000317905.5	-	12	1798	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.V520L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	547	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTACCTTCACAGTCAGCCTG	0.657								Other identified genes with known or suspected DNA repair function																														uc010dgl.3																			0		p.E546D(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1639-1641)Gtg>Ctg	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.							16	22	20					17																	73626864		1904	4117	6021	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73626864C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1639G>C	17.37:g.73626864C>G	ENSP00000317636:p.Val547Leu					RECQL5_uc010dgk.3_Missense_Mutation_p.V520L|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	p.V547L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		11	1848	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		547					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1639G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008457	0.54361	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.59224	0.28	5.43	5.43	0.79202	.	0.075580	0.52532	D	0.000062	T	0.59865	0.2225	L	0.58669	1.825	0.80722	D	1	B;B	0.33964	0.434;0.434	B;B	0.38056	0.138;0.264	T	0.57318	-0.7832	10	0.32370	T	0.25	-15.8538	19.24	0.93877	0.0:1.0:0.0:0.0	.	547;520	O94762;Q6P4G0	RECQ5_HUMAN;.	L	142;547;547	ENSP00000317636:V547L	ENSP00000317636:V547L	V	-	1	0	RECQL5	71138459	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.501000	0.73691	2.539000	0.85634	0.563000	0.77884	GTG		0.657	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		G	73626864	C	G	73626864	3	3	172	1	0	0	0	0	1	0	0	0	13203	478	17	5	1372	5	RECQL5	17	73626864	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	6321410	73626864	7568346	48	12250											
GALK1	2584	broad.mit.edu	37	chr17	73754163	73754163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcaccttggctccatCggctgcttgagagaggtaga	9	8	13	11	1	0	3	0	1	0	2	2	4	1	3	2	3	2	6	2	3	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73754163C>A	ENST00000588479.1	-	8	1727	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y	GALK1_ENST00000437911.1_Missense_Mutation_p.D415Y|GALK1_ENST00000225614.2_Missense_Mutation_p.D385Y			P51570	GALK1_HUMAN	galactokinase 1	385					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGCTCCATCGGCTGCTTGA	0.682																																						uc002jpk.3																			0				endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(1153-1155)Gat>Tat		Homo sapiens galactokinase 1 (GALK1), mRNA.							43	41	42					17																	73754163		2202	4299	6501	SO:0001583	missense	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73754163C>A		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.1153G>T	17.37:g.73754163C>A	ENSP00000465930:p.Asp385Tyr						p.D385Y	NM_000154	NP_000145	P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	1216	-	all_cancers(13;1.5e-07)		385					B2RC07|B4E1G6	Missense_Mutation	SNP	ENST00000588479.1	37	c.1153G>T	CCDS11728.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009382	0.35415	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.85411	-1.98;-1.98	4.84	2.7	0.31948	.	0.338095	0.30159	N	0.010274	D	0.90765	0.7101	M	0.93939	3.475	0.09310	N	0.999998	D	0.69078	0.997	P	0.54924	0.764	D	0.83720	0.0192	10	0.87932	D	0	.	7.4621	0.27302	0.1643:0.7501:0.0:0.0856	.	385	P51570	GALK1_HUMAN	Y	385;415;393	ENSP00000225614:D385Y;ENSP00000406305:D415Y	ENSP00000225614:D385Y	D	-	1	0	GALK1	71265758	0.369000	0.25039	0.106000	0.21319	0.121000	0.20230	1.543000	0.36147	1.045000	0.40225	0.563000	0.77884	GAT		0.682	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1			A	73754163	C	A	73754163	3	1	172	1	0	0	0	0	1	0	0	0	6203	884	31	5	29	5	GALK1	17	73754163	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	127299	73754163	7441047	49	12251											
OR10H3	26532	broad.mit.edu	37	chr19	15852470	15852470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatctgctcttcaccCatcgttccatcacctttgtg	5	15	7	14	1	4	1	2	1	2	0	6	1	5	1	3	1	1	3	3	1	0	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:15852470C>T	ENST00000305892.1	+	1	268	c.268C>T	c.(268-270)Cat>Tat	p.H90Y		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTCTTCACCCATCGTTCCAT	0.502																																						uc010xoq.2																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(268-270)Cat>Tat		Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.							564	470	502					19																	15852470		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852470C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.268C>T	19.37:g.15852470C>T	ENSP00000307130:p.His90Tyr						p.H90Y	NM_013938	NP_039226	O60404	O10H3_HUMAN			0	268	+			90					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.268C>T	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.998040	0.00435	.	.	ENSG00000171936	ENST00000305892	T	0.05580	3.42	2.35	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.349418	0.20614	U	0.088906	T	0.04227	0.0117	L	0.35542	1.07	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.33007	-0.9885	10	0.46703	T	0.11	.	2.5112	0.04657	0.2901:0.533:0.0:0.1769	.	90	O60404	O10H3_HUMAN	Y	90	ENSP00000307130:H90Y	ENSP00000307130:H90Y	H	+	1	0	OR10H3	15713470	0.000000	0.05858	0.201000	0.23476	0.053000	0.15095	-0.120000	0.10660	1.320000	0.45209	0.185000	0.17295	CAT		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			T	15852470	C	T	15852470	3	4	172	1	0	0	0	0	1	0	0	0	10907	594	21	3	270	3	OR10H3	19	15852470	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		15852470	43276513	50	12252											
CPAMD8	27151	broad.mit.edu	37	chr19	17017835	17017835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggagcagggtcagcgcGtaggtagtcagggcacagct	8	6	17	10	3	2	0	2	0	0	0	2	1	2	1	0	4	4	5	0	4	2	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:17017835G>A	ENST00000443236.1	-	30	4126	c.4095C>T	c.(4093-4095)taC>taT	p.Y1365Y	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1318						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTCAGCGCGTAGGTAGTCA	0.662																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4093-4095)taC>taT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							28	36	34					19																	17017835		2147	4256	6403	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17017835G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4095C>T	19.37:g.17017835G>A							p.Y1365Y	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			29	4127	-			1318					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4095C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.345643	0.01266	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.09	-0.494	0.12034	.	.	.	.	.	T	0.56934	0.2019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	10.041	0.42158	0.2501:0.0:0.7499:0.0	.	.	.	.	M	1376	.	.	T	-	2	0	CPAMD8	16878835	0.996000	0.38824	0.039000	0.18376	0.005000	0.04900	0.160000	0.16462	-0.424000	0.07382	-1.349000	0.01238	ACG		0.662	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17017835	G	A	17017835	2	1	172	1	0	0	0	0	0	0	0	1	3795	1140	40	1		1	CPAMD8	19	17017835	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	1165365	17017835	42111148	51	12253											
PSG1	5669	broad.mit.edu	37	chr19	43373123	43373123	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggttcacaggtgaagtttAagacatccttattctccctg	10	14	8	9	0	2	2	1	1	1	1	4	2	3	2	2	2	0	2	2	2	4	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:43373123A>C	ENST00000436291.2	-	4	889	c.773T>G	c.(772-774)tTa>tGa	p.L258*	PSG1_ENST00000244296.2_Nonsense_Mutation_p.L258*|PSG1_ENST00000403380.3_Nonsense_Mutation_p.L165*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.L165*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.L258*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.L258*	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	258	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGTGAAGTTTAAGACATCCTT	0.488																																						uc002ovd.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(772-774)tTa>tGa		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							232	248	242					19																	43373123		1509	2709	4218	SO:0001587	stop_gained	5669				defense response|female pregnancy	extracellular region		g.chr19:43373123A>C		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.773T>G	19.37:g.43373123A>C	ENSP00000413041:p.Leu258*					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Nonsense_Mutation_p.L258*|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Nonsense_Mutation_p.L165*|PSG3_uc002ova.2_Nonsense_Mutation_p.L165*|PSG3_uc002ouz.2_Nonsense_Mutation_p.L258*|PSG3_uc002ovb.3_Nonsense_Mutation_p.L258*	p.L258*	NM_006905	NP_008836	Q16557	PSG3_HUMAN			3	911	-		Prostate(69;0.00682)	258			Ig-like C2-type 2.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Nonsense_Mutation	SNP	ENST00000436291.2	37	c.773T>G	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	13.46	2.242611	0.39598	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.47	0.371	0.16168	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9111	0.05737	0.7011:0.0:0.2989:0.0	.	.	.	.	X	258;165;258;258	.	ENSP00000244296:L258X	L	-	2	0	PSG1	48064963	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.482000	0.22276	0.649000	0.30751	0.155000	0.16302	TTA		0.488	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			C	43373123	A	C	43373123	4	2	172	1	0	0	0	0	0	1	0	0	12653	372	13	5	551	5	PSG1	19	43373123	Nonsense_Mutation	SNP	A	TCGA-26-1439-01A-01D-1353-08	26355288	43373123	15755860	52	12254											
SPTLC3	55304	broad.mit.edu	37	chr20	13052931	13052931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccactgtatcaagactttGaaaatttttatacaagaaac	16	13	5	7	0	1	3	1	1	0	2	1	3	1	3	1	0	3	1	1	0	8	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr20:13052931G>C	ENST00000399002.2	+	3	605	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E111Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	111					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCAAGACTTTGAAAATTTTTA	0.428																																						uc002wod.1																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(331-333)Gaa>Caa		Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	Pyridoxal Phosphate(DB00114)						117	124	121					20																	13052931		1825	4077	5902	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13052931G>C	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.331G>C	20.37:g.13052931G>C	ENSP00000381968:p.Glu111Gln						p.E111Q	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			2	620	+			111					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.331G>C	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009439	0.93346	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.88202	0.6373	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91063	0.4887	10	0.87932	D	0	-25.1433	18.7708	0.91892	0.0:0.0:1.0:0.0	.	111	Q9NUV7	SPTC3_HUMAN	Q	111;111;111;84	ENSP00000389749:E111Q;ENSP00000381968:E111Q;ENSP00000367436:E111Q;ENSP00000409125:E84Q	ENSP00000367436:E111Q	E	+	1	0	SPTLC3	13000931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.980000	0.88113	2.437000	0.82529	0.655000	0.94253	GAA		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		C	13052931	G	C	13052931	3	2	172	1	0	0	0	0	1	0	0	0	15124	1291	45	5	341	5	SPTLC3	20	13052931	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		13052931	49972589	53	12255											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066487	46066487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcccccagctgctgcGccccggccccctccctgagc	3	4	11	23	3	0	1	0	1	0	0	1	1	1	1	7	1	5	3	7	1	0	0	rs373410945		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr21:46066487G>A	ENST00000334670.8	+	1	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	38	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697													G|||	1	0.000199681	0	0	5008	,	,		13955	0		0.001	False		,,,				2504	0					uc002zfr.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(112-114)Gcc>Acc		Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.		G	,THR/ALA	3,4255		0,3,2126	26	30	28		,112	-6.3	0.8	21		28	0,8458		0,0,4229	no	intron,missense	TSPEAR,KRTAP10-11	NM_144991.2,NM_198692.2	,58	0,3,6355	AA,AG,GG		0.0,0.0705,0.0236	,benign	,38/299	46066487	3,12713	2129	4229	6358	SO:0001583	missense	386678					keratin filament		g.chr21:46066487G>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.112G>A	21.37:g.46066487G>A	ENSP00000334197:p.Ala38Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A38T	NM_198692	NP_941965	P60411	KR109_HUMAN			0	157	+			38			25 X 5 AA repeats of C-C-X(3).		A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.112G>A	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	g	0.792	-0.758538	0.03019	7.05E-4	0.0	ENSG00000243489	ENST00000334670	T	0.04654	3.58	3.34	-6.3	0.02007	.	.	.	.	.	T	0.02888	0.0086	L	0.35542	1.07	0.20873	N	0.999838	B	0.10296	0.003	B	0.04013	0.001	T	0.45977	-0.9224	9	0.29301	T	0.29	.	2.6499	0.04995	0.2961:0.1188:0.4652:0.1199	.	38	P60412	KR10B_HUMAN	T	38	ENSP00000334197:A38T	ENSP00000334197:A38T	A	+	1	0	KRTAP10-11	44890915	0.000000	0.05858	0.795000	0.32087	0.048000	0.14542	-3.693000	0.00391	-0.784000	0.04528	-1.792000	0.00626	GCC		0.697	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		A	46066487	G	A	46066487	3	1	172	1	0	0	0	0	1	0	0	0	8507	1087	38	1	114	1	KRTAP10-11	21	46066487	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		46066487	2063408	54	12256											
CECR6	27439	broad.mit.edu	37	chr22	17600851	17600851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcatccggccgcgcggtgCcgctggggctgcagcagcag	6	4	17	14	5	0	0	0	0	0	0	1	0	1	0	3	4	5	6	3	4	1	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:17600851C>T	ENST00000331437.3	-	1	1292	c.1167G>A	c.(1165-1167)cgG>cgA	p.R389R	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Silent_p.R34R	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	389										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCGCGCGGTGCCGCTGGGGCT	0.736																																						uc002zmb.2																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(1165-1167)cgG>cgA		Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.							7	7	7					22																	17600851		2127	4143	6270	SO:0001819	synonymous_variant	27439							g.chr22:17600851C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1167G>A	22.37:g.17600851C>T						CECR6_uc002zma.2_Silent_p.R34R|BC021738_uc002zmc.3_5'Flank	p.R389R	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	0	1363	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	389					A8MYY1	Silent	SNP	ENST00000331437.3	37	c.1167G>A	CCDS13740.1																																																																																				0.736	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		T	17600851	C	T	17600851	2	4	172	1	0	0	0	0	0	0	0	1	3208	726	26	3		3	CECR6	22	17600851	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08		17600851	33703715	55	12257											
GNB1L	54584	broad.mit.edu	37	chr22	19794193	19794193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccttacctgccacagccGcaggcacatgggcatgccca	8	5	12	16	1	0	0	0	0	0	0	0	0	0	0	5	3	4	3	5	3	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:19794193G>C	ENST00000329517.6	-	6	741	c.505C>G	c.(505-507)Cgg>Ggg	p.R169G	GNB1L_ENST00000405009.1_Missense_Mutation_p.R169G|GNB1L_ENST00000403325.1_Missense_Mutation_p.R169G|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	169					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGCCACAGCCGCAGGCACATG	0.607																																						uc002zqf.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(505-507)Cgg>Ggg		Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.							40	33	35					22																	19794193		2203	4300	6503	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19794193G>C	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.505C>G	22.37:g.19794193G>C	ENSP00000331313:p.Arg169Gly						p.R169G	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			5	742	-	Colorectal(54;0.0993)		169					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.505C>G	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282043	0.40394	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.18502	2.21;2.21;5.0	5.21	-3.71	0.04424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.728469	0.11810	N	0.527295	T	0.04998	0.0134	N	0.02539	-0.55	0.23620	N	0.997273	B	0.06786	0.001	B	0.04013	0.001	T	0.40327	-0.9569	10	0.22109	T	0.4	-23.0731	6.6685	0.23056	0.0:0.2097:0.2642:0.5262	.	169	Q9BYB4	GNB1L_HUMAN	G	169	ENSP00000331313:R169G;ENSP00000385154:R169G;ENSP00000384626:R169G	ENSP00000331313:R169G	R	-	1	2	GNB1L	18174193	0.175000	0.23083	0.955000	0.39395	0.991000	0.79684	-0.684000	0.05173	-0.600000	0.05790	-0.165000	0.13383	CGG		0.607	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			C	19794193	G	C	19794193	3	2	172	1	0	0	0	0	1	0	0	0	6516	1086	38	5	490	5	GNB1L	22	19794193	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	2193342	19794193	31510373	56	12258											
CSF2RB	1439	broad.mit.edu	37	chr22	37325775	37325775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcccgagtacggacccGcctggccccaggttctcggc	4	6	14	17	5	1	0	0	0	1	0	2	2	1	1	5	5	1	2	5	5	1	2	rs149714683		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37325775G>A	ENST00000403662.3	+	6	866	c.644G>A	c.(643-645)cGc>cAc	p.R215H	CSF2RB_ENST00000536485.1_Missense_Mutation_p.R156H|CSF2RB_ENST00000262825.5_Missense_Mutation_p.R215H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R215H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	215	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTACGGACCCGCCTGGCCCCA	0.647													G|||	1	0.000199681	0	0	5008	,	,		18174	0.001		0	False		,,,				2504	0					uc003aqa.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(643-645)cGc>cAc		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)	G	HIS/ARG	0,4406		0,0,2203	34	36	36		644	-0.7	0	22	dbSNP_134	36	6,8594	5.0+/-18.6	0,6,4294	yes	missense	CSF2RB	NM_000395.2	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	possibly-damaging	215/898	37325775	6,13000	2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325775G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.644G>A	22.37:g.37325775G>A	ENSP00000384053:p.Arg215His					CSF2RB_uc003aqc.4_Missense_Mutation_p.R215H	p.R215H	NM_000395	NP_000386	P32927	IL3RB_HUMAN			5	861	+			215			Fibronectin type-III 1.		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.644G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	6.959	0.546894	0.13312	0.0	6.98E-4	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.37	-0.721	0.11189	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.133070	0.02404	N	0.080945	T	0.46249	0.1383	L	0.33245	0.995	0.09310	N	1	P;B	0.47034	0.889;0.364	B;B	0.28849	0.095;0.01	T	0.46665	-0.9175	10	0.31617	T	0.26	-13.1409	4.8095	0.13337	0.4115:0.0:0.4463:0.1422	.	215;215	P32927-2;P32927	.;IL3RB_HUMAN	H	215;215;215;215;135;156	ENSP00000384053:R215H;ENSP00000262825:R215H;ENSP00000385271:R215H;ENSP00000393585:R135H;ENSP00000440003:R156H	ENSP00000262825:R215H	R	+	2	0	CSF2RB	35655721	0.012000	0.17670	0.027000	0.17364	0.012000	0.07955	0.198000	0.17217	0.019000	0.15079	-0.182000	0.12963	CGC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37325775	G	A	37325775	3	1	172	1	0	0	0	0	1	0	0	0	3935	1087	38	1	662	1	CSF2RB	22	37325775	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	17531582	37325775	13978791	57	12259											
SSTR3	6753	broad.mit.edu	37	chr22	37603101	37603101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgttcggagcgccgccGccgctggcacgagggtgccc	3	5	16	17	7	0	0	0	0	0	0	1	2	0	1	5	3	3	3	5	3	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37603101G>A	ENST00000328544.3	-	2	1275	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	SSTR3_ENST00000402501.1_Missense_Mutation_p.R248W	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	248					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GAGCGCCGCCGCCGCTGGCAC	0.667																																						uc003ara.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(742-744)Cgg>Tgg		Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.							29	30	30					22																	37603101		2195	4279	6474	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603101G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.742C>T	22.37:g.37603101G>A	ENSP00000330138:p.Arg248Trp					SSTR3_uc003arb.3_Missense_Mutation_p.R248W|SSTR3_uc021wos.1_Missense_Mutation_p.R248W	p.R248W	NM_001051	NP_001042	P32745	SSR3_HUMAN			1	804	-			248					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.742C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756665	0.49362	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.46451	0.87;0.87	5.08	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.066696	0.64402	D	0.000020	T	0.69557	0.3124	M	0.90870	3.155	0.46336	D	0.998991	D	0.89917	1.0	D	0.87578	0.998	T	0.77056	-0.2729	10	0.87932	D	0	.	12.8621	0.57920	0.0:0.0:0.7527:0.2473	.	248	P32745	SSR3_HUMAN	W	248	ENSP00000330138:R248W;ENSP00000384904:R248W	ENSP00000330138:R248W	R	-	1	2	SSTR3	35933047	1.000000	0.71417	0.996000	0.52242	0.172000	0.22775	1.665000	0.37449	2.353000	0.79882	0.563000	0.77884	CGG		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			A	37603101	G	A	37603101	3	1	172	1	0	0	0	0	1	0	0	0	15198	1086	38	1	518	1	SSTR3	22	37603101	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	277326	37603101	13701465	58	12260											
EFNB1	1947	broad.mit.edu	37	chrX	68058542	68058542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgagcagaagcagggCggccctatgagtactacaag	11	4	13	13	2	0	2	0	1	0	1	0	3	0	2	3	2	4	3	3	2	5	3	rs367996552		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chrX:68058542C>G	ENST00000204961.4	+	2	991	c.211C>G	c.(211-213)Cgg>Ggg	p.R71G		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	71	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.R71W(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGAAGCAGGGCGGCCCTATGA	0.572																																						uc004dxe.2																			1	Substitution - Missense(1)	p.R71W(2)|p.R71Q(1)	large_intestine(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(211-213)Cgg>Ggg		Homo sapiens ephrin-B1 (EFNB1), mRNA.							58	45	50					X																	68058542		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058542C>G	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.211C>G	X.37:g.68058542C>G	ENSP00000204961:p.Arg71Gly					EFNB1_uc004dxd.4_Missense_Mutation_p.R71G	p.R71G	NM_004429	NP_004420	P98172	EFNB1_HUMAN			1	991	+			71					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.211C>G	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536173	0.13188	.	.	ENSG00000090776	ENST00000204961	D	0.92965	-3.14	5.03	1.06	0.20224	Cupredoxin (2);	0.449209	0.22871	N	0.054633	T	0.81578	0.4852	N	0.16790	0.44	0.40141	D	0.976838	B	0.21821	0.061	B	0.22753	0.041	T	0.68895	-0.5288	10	0.02654	T	1	-21.7179	12.4068	0.55445	0.565:0.435:0.0:0.0	.	71	P98172	EFNB1_HUMAN	G	71	ENSP00000204961:R71G	ENSP00000204961:R71G	R	+	1	2	EFNB1	67975267	0.902000	0.30710	0.995000	0.50966	0.944000	0.59088	0.385000	0.20685	-0.108000	0.12066	-0.763000	0.03452	CGG		0.572	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		G	68058542	C	G	68058542	3	3	172	1	0	0	0	0	1	0	0	0	4955	759	27	5	217	5	EFNB1	23	68058542	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		68058542	87212018	59	12261											
TIE1	7075	broad.mit.edu	37	chr1	43778133	43778133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggagcggcgggagaaCgtctcatccccccaggcccg	7	3	16	15	4	1	1	1	0	1	1	3	3	2	2	4	5	2	1	4	5	1	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:43778133C>T	ENST00000372476.3	+	12	1867	c.1788C>T	c.(1786-1788)aaC>aaT	p.N596N	TIE1_ENST00000433781.2_Silent_p.N241N	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	596	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGGAGAACGTCTCATCCC	0.697																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1786-1788)aaC>aaT		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							35	34	34					1																	43778133		2203	4299	6502	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778133C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1788C>T	1.37:g.43778133C>T						TIE1_uc010okd.2_Silent_p.N596N|TIE1_uc010oke.2_Silent_p.N551N|TIE1_uc009vwq.3_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.2_Silent_p.N241N	p.N596N	NM_005424	NP_005415	P35590	TIE1_HUMAN			11	1965	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	596			Fibronectin type-III 2.		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1788C>T	CCDS482.1																																																																																				0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		T	43778133	C	T	43778133	2	4	173	1	0	0	0	0	0	0	0	1	15890	535	19	1		1	TIE1	1	43778133	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08		43778133	205472488	1	12262											
DNAJB4	11080	broad.mit.edu	37	chr1	78478954	78478954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatgaatggatatccaaGagacaggaattctgtggggc	13	8	13	7	0	1	2	0	1	1	1	2	5	2	4	1	4	1	1	1	4	4	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:78478954G>C	ENST00000370763.5	+	2	688	c.431G>C	c.(430-432)aGa>aCa	p.R144T	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	144					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGATATCCAAGAGACAGGAAT	0.413																																						uc001dij.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(430-432)aGa>aCa		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.							139	137	138					1																	78478954		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478954G>C	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.431G>C	1.37:g.78478954G>C	ENSP00000359799:p.Arg144Thr					DNAJB4_uc010orn.2_Missense_Mutation_p.R29T	p.R144T	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			1	590	+			144					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.431G>C	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246916	0.59103	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.64803	-0.12;0.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.38953	1.18	0.80722	D	1	B	0.17465	0.022	B	0.18561	0.022	T	0.35375	-0.9791	10	0.13853	T	0.58	.	18.928	0.92553	0.0:0.0:1.0:0.0	.	144	Q9UDY4	DNJB4_HUMAN	T	144	ENSP00000399494:R144T;ENSP00000359799:R144T	ENSP00000359799:R144T	R	+	2	0	DNAJB4	78251542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.439000	0.82584	0.644000	0.83932	AGA		0.413	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			C	78478954	G	C	78478954	3	2	173	1	0	0	0	0	1	0	0	0	4622	942	33	5	437	5	DNAJB4	1	78478954	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	34700821	78478954	170771667	2	12263											
S100A8	6279	broad.mit.edu	37	chr1	153362982	153362982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagacgtcgatgatagaGttcaaggctttctccagctc	9	12	11	9	2	2	3	1	1	1	2	5	4	2	3	1	2	1	4	1	2	3	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:153362982G>T	ENST00000368733.3	-	2	199	c.30C>A	c.(28-30)aaC>aaA	p.N10K	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.N10K	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGATGATAGAGTTCAAGGCTT	0.502																																						uc001fbs.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(28-30)aaC>aaA		Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.							181	181	181					1																	153362982		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362982G>T	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.30C>A	1.37:g.153362982G>T	ENSP00000357722:p.Asn10Lys						p.N10K	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	200	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		10					A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.30C>A	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.773927	0.49786	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.09255	3.0;3.0	4.17	4.17	0.49024	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.270973	0.42682	D	0.000664	T	0.04815	0.0130	.	.	.	0.09310	N	1	P	0.39352	0.669	B	0.43889	0.435	T	0.36163	-0.9759	9	0.25106	T	0.35	.	12.2866	0.54795	0.0:0.0:1.0:0.0	.	10	P05109	S10A8_HUMAN	K	10	ENSP00000357722:N10K;ENSP00000357721:N10K	ENSP00000357721:N10K	N	-	3	2	S100A8	151629606	0.002000	0.14202	0.025000	0.17156	0.016000	0.09150	0.387000	0.20718	2.625000	0.88918	0.650000	0.86243	AAC		0.502	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		T	153362982	G	T	153362982	3	4	173	1	0	0	0	0	1	0	0	0	13786	1020	36	5	259	5	S100A8	1	153362982	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	74884028	153362982	95887639	3	12264											
C1orf14	81626	broad.mit.edu	37	chr1	182920519	182920519	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaagaatacactgggattAgtcttccagactccaagcca	15	8	7	11	0	1	2	0	0	1	2	3	3	3	3	3	1	2	0	3	1	5	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:182920519A>T	ENST00000367547.3	-	2	725	c.489T>A	c.(487-489)acT>acA	p.T163T	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.T44T	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	235										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CACTGGGATTAGTCTTCCAGA	0.318																																						uc001gpu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(487-489)acT>acA		Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.							58	61	60					1																	182920519		2202	4294	6496	SO:0001819	synonymous_variant	81626							g.chr1:182920519A>T	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.489T>A	1.37:g.182920519A>T						SHCBP1L_uc001gpv.3_Silent_p.T44T|SHCBP1L_uc010pnz.2_Silent_p.T21T|SHCBP1L_uc001gpw.3_5'UTR	p.T163T	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN			1	774	-			235					Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	c.489T>A	CCDS30955.1																																																																																				0.318	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		T	182920519	A	T	182920519	2	4	173	1	0	0	0	0	0	0	0	1	2000	407	15	5		5	C1orf14	1	182920519	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	29557537	182920519	66330102	4	12265											
CFHR4	3080	broad.mit.edu	37	chr1	196887345	196887345	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgctttcagatccaTgtataataactgaagaaaac	14	15	5	7	0	2	3	1	1	1	2	3	3	3	3	1	0	3	2	1	0	6	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:196887345T>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.C139R|CFHR4_ENST00000251424.4_Missense_Mutation_p.C269R|CFHR4_ENST00000367416.2_Missense_Mutation_p.C515R|CFHR4_ENST00000367418.2_Missense_Mutation_p.C269R			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTCAGATCCATGTATAATAAC	0.259																																						uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1546-1548)Tgt>Cgt		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							36	41	39					1																	196887345		2167	4284	6451	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196887345T>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31240T>C	1.37:g.196887345T>C						CFH_uc021pgt.1_Missense_Mutation_p.C139R|CFH_uc009wyy.3_Missense_Mutation_p.C515R|CFH_uc001gto.3_Missense_Mutation_p.C269R	p.C516R	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			9	1683	+			868			Sushi 9.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1546T>C		.	.	.	.	.	.	.	.	.	.	T	16.57	3.159708	0.57368	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.99462	-5.94;-5.94;-5.94	3.24	3.24	0.37175	Complement control module (1);	.	.	.	.	D	0.99429	0.9798	M	0.88031	2.925	0.46396	D	0.999023	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.87578	0.764;0.994;0.998	D	0.99437	1.0937	9	0.54805	T	0.06	.	8.1699	0.31249	0.0:0.0:0.0:1.0	.	515;516;269	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	R	515;269;269;269	ENSP00000356386:C515R;ENSP00000356388:C269R;ENSP00000251424:C269R	ENSP00000251424:C269R	C	+	1	0	CFHR4	195153968	1.000000	0.71417	0.771000	0.31576	0.408000	0.30992	3.180000	0.50895	1.238000	0.43771	0.358000	0.22013	TGT		0.259	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		C	196887345	T	C	196887345	1	2	173	0	1	0	0	0	0	0	0	0	3287	1464	51	4		4	CFHR4	1	196887345	Intron	SNP	T	TCGA-26-1442-01A-01D-1696-08	13966826	196887345	52363276	5	12266											
CACNA1S	779	broad.mit.edu	37	chr1	201042718	201042718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcacccttgggtttctgctCcagcttcttggccatcgttg	3	15	9	14	1	3	0	1	0	2	0	5	0	4	0	3	2	2	4	3	2	0	5	rs397843806		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:201042718C>G	ENST00000362061.3	-	15	2342	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E706Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	706					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTTCTGCTCCAGCTTCTTG	0.542																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2116-2118)Gag>Cag		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						404	386	392					1																	201042718		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201042718C>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2116G>C	1.37:g.201042718C>G	ENSP00000355192:p.Glu706Gln						p.E706Q	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			14	2343	-			706					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2116G>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143327	0.57044	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96427	-4.01;-3.93	4.39	4.39	0.52855	.	0.248759	0.14191	U	0.335314	D	0.93916	0.8053	L	0.51853	1.615	0.50467	D	0.999879	P	0.41188	0.741	B	0.37267	0.245	D	0.92599	0.6089	10	0.31617	T	0.26	.	15.1236	0.72465	0.0:1.0:0.0:0.0	.	706	Q13698	CAC1S_HUMAN	Q	706	ENSP00000355192:E706Q;ENSP00000356307:E706Q	ENSP00000355192:E706Q	E	-	1	0	CACNA1S	199309341	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.974000	0.76122	1.987000	0.57996	0.551000	0.68910	GAG		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201042718	C	G	201042718	3	3	173	1	0	0	0	0	1	0	0	0	2547	864	30	5	3625	5	CACNA1S	1	201042718	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	4155373	201042718	48207903	6	12267											
USH2A	7399	broad.mit.edu	37	chr1	216348801	216348801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgttgattcctttaaccaGaggtggcctcagttgtgctg	6	14	12	9	0	1	2	1	1	0	1	2	2	2	2	3	2	2	4	3	2	1	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:216348801G>C	ENST00000307340.3	-	21	4806	c.4420C>G	c.(4420-4422)Ctg>Gtg	p.L1474V	USH2A_ENST00000366942.3_Missense_Mutation_p.L1474V|USH2A_ENST00000366943.2_Missense_Mutation_p.L1474V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1474					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTAACCAGAGGTGGCCTC	0.403										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4420-4422)Ctg>Gtg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							122	112	115					1																	216348801		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216348801G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4420C>G	1.37:g.216348801G>C	ENSP00000305941:p.Leu1474Val	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.L1474V	p.L1474V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	20	4807	-			1474					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4420C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.329831	0.01298	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.53423	0.62;0.62;0.62	5.38	-4.63	0.03359	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.110610	0.07146	N	0.848185	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.12837	0.008;0.002	T	0.28933	-1.0028	10	0.11485	T	0.65	.	0.3594	0.00362	0.2357:0.1874:0.2775:0.2994	.	1474;1474	O75445-2;O75445	.;USH2A_HUMAN	V	1474	ENSP00000305941:L1474V;ENSP00000355910:L1474V;ENSP00000355909:L1474V	ENSP00000305941:L1474V	L	-	1	2	USH2A	214415424	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.625000	0.05534	-1.495000	0.01831	-1.071000	0.02255	CTG		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216348801	G	C	216348801	3	2	173	1	0	0	0	0	1	0	0	0	17033	933	33	5	11410	5	USH2A	1	216348801	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	15306083	216348801	32901820	7	12268											
TTC27	55622	broad.mit.edu	37	chr2	33036261	33036261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtatatggaaatgggcaGagtgaaaagcctgatgaaaa	17	7	12	5	1	0	4	0	3	0	1	0	5	0	5	1	2	1	2	1	2	7	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:33036261G>C	ENST00000317907.4	+	17	2400	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	723										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAATGGGCAGAGTGAAAAGC	0.428																																						uc002rom.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2167-2169)caG>caC		Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.							102	104	103					2																	33036261		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33036261G>C	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2169G>C	2.37:g.33036261G>C	ENSP00000313953:p.Gln723His					TTC27_uc010ymx.2_Missense_Mutation_p.Q673H	p.Q723H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN			16	2442	+			723					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.2169G>C	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761644	0.15914	.	.	ENSG00000018699	ENST00000317907	T	0.60040	0.22	5.22	3.45	0.39498	.	0.330721	0.35772	N	0.002986	T	0.37046	0.0989	L	0.27053	0.805	0.31363	N	0.681115	B	0.02656	0.0	B	0.04013	0.001	T	0.29366	-1.0014	10	0.15066	T	0.55	-13.7778	6.2682	0.20939	0.2164:0.1334:0.6502:0.0	.	723	Q6P3X3	TTC27_HUMAN	H	723	ENSP00000313953:Q723H	ENSP00000313953:Q723H	Q	+	3	2	TTC27	32889765	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	0.627000	0.24506	0.792000	0.33850	0.650000	0.86243	CAG		0.428	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		C	33036261	G	C	33036261	3	2	173	1	0	0	0	0	1	0	0	0	16692	933	33	5	2235	5	TTC27	2	33036261	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		33036261	210163112	8	12269											
INO80B	83444	broad.mit.edu	37	chr2	74684891	74684891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgctacgcttgctcccGcacaggccaggcactctgta	6	7	11	17	4	1	0	0	0	1	0	2	0	2	0	3	2	2	6	3	2	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:74684891G>A	ENST00000233331.7	+	5	1065	c.971G>A	c.(970-972)cGc>cAc	p.R324H	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	324					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTTGCTCCCGCACAGGCCAG	0.697																																						uc010yrs.2																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(1024-1026)cGc>cAc		Homo sapiens INO80 complex subunit B (INO80B), mRNA.							16	18	18					2																	74684891		2154	4199	6353	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74684891G>A	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.971G>A	2.37:g.74684891G>A	ENSP00000233331:p.Arg324His					INO80B_uc002slg.3_Missense_Mutation_p.R324H|INO80B_uc010yrr.2_Missense_Mutation_p.R296H|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	p.R342H	NM_031288	NP_112578	Q9C086	IN80B_HUMAN			3	1226	+			324						Missense_Mutation	SNP	ENST00000233331.7	37	c.1025G>A	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128178	0.77549	.	.	ENSG00000115274	ENST00000233331	T	0.51817	0.69	5.27	5.27	0.74061	Zinc finger, HIT-type (1);	0.114795	0.64402	D	0.000014	T	0.46483	0.1395	N	0.12182	0.205	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.69307	0.963;0.886;0.886	T	0.45963	-0.9225	10	0.48119	T	0.1	-22.8453	9.7473	0.40455	0.0912:0.0:0.9088:0.0	.	342;309;324	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	H	324	ENSP00000233331:R324H	ENSP00000233331:R324H	R	+	2	0	INO80B	74538399	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.278000	0.65592	2.739000	0.93911	0.561000	0.74099	CGC		0.697	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		A	74684891	G	A	74684891	3	1	173	1	0	0	0	0	1	0	0	0	7747	1087	38	1	989	1	INO80B	2	74684891	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	41648630	74684891	168514482	9	12270											
KIF5C	3800	broad.mit.edu	37	chr2	149857246	149857246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtttttcagattgctcaacGataaaagggaacaagccaga	15	10	9	7	1	2	2	2	0	0	2	2	4	2	3	1	1	4	2	1	1	5	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:149857246G>C	ENST00000435030.1	+	21	2691	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	KIF5C_ENST00000397413.1_Missense_Mutation_p.D543H|KIF5C_ENST00000414838.2_Missense_Mutation_p.D680H|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	775					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTGCTCAACGATAAAAGGGA	0.423																																						uc010zbu.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2323-2325)Gat>Cat		Homo sapiens kinesin family member 5C (KIF5C), mRNA.							189	173	178					2																	149857246		1855	4105	5960	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149857246G>C	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2323G>C	2.37:g.149857246G>C	ENSP00000393379:p.Asp775His					KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.D57H	p.D775H	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	20	2718	+			775					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2323G>C		.	.	.	.	.	.	.	.	.	.	G	18.52	3.640792	0.67244	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.80033	-1.33;-1.33;-1.33	5.01	5.01	0.66863	.	0.196392	0.47852	D	0.000207	T	0.74473	0.3721	.	.	.	0.58432	D	0.999994	B;B	0.28971	0.037;0.229	B;B	0.30646	0.048;0.118	T	0.69888	-0.5023	8	.	.	.	.	18.5179	0.90942	0.0:0.0:1.0:0.0	.	775;83	O60282;Q59GB8	KIF5C_HUMAN;.	H	775;680;678;543	ENSP00000393379:D775H;ENSP00000410115:D680H;ENSP00000380560:D543H	.	D	+	1	0	KIF5C	149565492	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.657000	0.98554	2.601000	0.87937	0.655000	0.94253	GAT		0.423	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		C	149857246	G	C	149857246	3	2	173	1	0	0	0	0	1	0	0	0	8307	1058	37	5	2327	5	KIF5C	2	149857246	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	75172355	149857246	93342127	10	12271											
COQ10B	80219	broad.mit.edu	37	chr2	198318368	198318368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagcggccggggcgcaGgcgcccgtgcggaatggcag	6	2	20	13	7	0	0	0	0	0	0	0	2	0	1	2	6	2	2	2	6	1	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:198318368G>A	ENST00000263960.2	+	1	222	c.84G>A	c.(82-84)caG>caA	p.Q28Q	COQ10B_ENST00000409010.1_5'Flank|COQ10B_ENST00000409398.1_Silent_p.Q28Q|COQ10B_ENST00000545340.1_5'Flank	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	28						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGGGGCGCAGGCGCCCGTGC	0.627																																						uc002uuh.1																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(82-84)caG>caA		Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.							33	43	40					2																	198318368		2202	4298	6500	SO:0001819	synonymous_variant	80219					mitochondrial inner membrane		g.chr2:198318368G>A	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"coenzyme Q10 homolog B (yeast)"				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.84G>A	2.37:g.198318368G>A						COQ10B_uc010fsl.1_5'Flank	p.Q28Q	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		0	138	+			28					B7Z1Y4	Silent	SNP	ENST00000263960.2	37	c.84G>A	CCDS2319.1																																																																																				0.627	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		A	198318368	G	A	198318368	2	1	173	1	0	0	0	0	0	0	0	1	3744	991	35	3		3	COQ10B	2	198318368	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	48461122	198318368	44881005	11	12272											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	173	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	10794744	209113112	34086261	12	12273											
SMARCC1	6599	broad.mit.edu	37	chr3	47755965	47755965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatcaacatcattactatgGacccaagtatcatagctata	15	11	5	10	0	3	0	3	0	0	0	3	1	3	1	1	1	3	3	1	1	8	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:47755965G>A	ENST00000254480.5	-	8	851	c.732C>T	c.(730-732)gtC>gtT	p.V244V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	244					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATTACTATGGACCCAAGTAT	0.274																																						uc003crq.2																			0		p.W243L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(730-732)gtC>gtT		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.							76	81	79					3																	47755965		2202	4299	6501	SO:0001819	synonymous_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47755965G>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.732C>T	3.37:g.47755965G>A						SMARCC1_uc011bbd.1_Silent_p.V135V	p.V244V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	7	850	-			244					Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	c.732C>T	CCDS2758.1																																																																																				0.274	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			A	47755965	G	A	47755965	2	1	173	1	0	0	0	0	0	0	0	1	14775	1161	41	3		3	SMARCC1	3	47755965	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08		47755965	150266465	13	12274											
ITIH1	3697	broad.mit.edu	37	chr3	52822082	52822082	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaccgagtgaccggcGgtgagtccttggaagggtct	7	8	16	10	3	1	3	0	2	1	1	2	5	2	4	4	4	1	0	4	4	1	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:52822082G>A	ENST00000273283.2	+	17	2029	c.2005G>A	c.(2005-2007)Gtg>Atg	p.V669M	ITIH1_ENST00000537050.1_Splice_Site_p.V381M|ITIH1_ENST00000405128.3_Splice_Site_p.V35M|ITIH1_ENST00000540715.1_Splice_Site_p.V527M|ITIH1_ENST00000542827.1_Intron	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	669	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGTGACCGGCGGTGAGTCCTT	0.607																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.e17+1		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.							83	77	79					3																	52822082		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52822082G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2005+1G>A	3.37:g.52822082G>A						ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.V527_splice|ITIH1_uc021wzg.1_Splice_Site_p.V381_splice|ITIH1_uc021wzh.1_Splice_Site_p.V381_splice|ITIH1_uc003dft.3_Splice_Site_p.V270_splice	p.V669_splice	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	17	2035	+			669			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2005_splice	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815161	0.70912	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.18502	4.5;4.39;4.19;3.69;2.21	4.0	4.0	0.46444	.	0.067056	0.64402	D	0.000016	T	0.45558	0.1348	M	0.88640	2.97	0.44234	D	0.997079	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.986;0.99;0.972;0.99	T	0.51779	-0.8662	10	0.66056	D	0.02	-25.5629	11.9255	0.52817	0.0:0.0:1.0:0.0	.	527;35;270;669	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	M	669;527;381;222;35	ENSP00000273283:V669M;ENSP00000443973:V527M;ENSP00000443847:V381M;ENSP00000395836:V222M;ENSP00000384589:V35M	ENSP00000273283:V669M	V	+	1	0	ITIH1	52797122	0.998000	0.40836	0.952000	0.39060	0.142000	0.21351	4.361000	0.59461	2.525000	0.85131	0.655000	0.94253	GTG		0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Missense_Mutation	A	52822082	G	A	52822082	5	1	173	1	0	0	0	0	0	0	1	0	7903	1130	39	2	2071	2	ITIH1	3	52822082	Splice_Site	SNP	G	TCGA-26-1442-01A-01D-1696-08	5066117	52822082	145200348	14	12275											
DZIP1L	199221	broad.mit.edu	37	chr3	137799416	137799416	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaggtcccaccttcctcTggagagtcctcctctgtgtc	6	12	9	14	0	2	1	0	0	2	1	7	2	6	1	5	2	0	1	5	2	1	2	rs369312454		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:137799416T>C	ENST00000327532.2	-	10	1643	c.1281A>G	c.(1279-1281)ccA>ccG	p.P427P	DZIP1L_ENST00000469243.1_Silent_p.P427P|DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	427					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACCTTCCTCTGGAGAGTCCT	0.522													C|||	1	0.000199681	0	0	5008	,	,		20550	0		0.001	False		,,,				2504	0					uc003erq.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1279-1281)ccA>ccG		Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	129	113	119		1281,1281	-8.9	0.1	3		119	4,8596	819.1+/-406.8	0,4,4296	no	coding-synonymous,coding-synonymous	DZIP1L	NM_001170538.1,NM_173543.2	,	0,4,6499	CC,CT,TT		0.0465,0.0,0.0308	,	427/540,427/768	137799416	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137799416T>C	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1281A>G	3.37:g.137799416T>C						DZIP1L_uc003err.1_Silent_p.P427P	p.P427P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			9	1644	-			427					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1281A>G	CCDS3096.1																																																																																				0.522	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		C	137799416	T	C	137799416	2	2	173	1	0	0	0	0	0	0	0	1	4864	1567	55	4		4	DZIP1L	3	137799416	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	84977334	137799416	60223014	15	12276											
ZBTB38	253461	broad.mit.edu	37	chr3	141162963	141162963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatgcaagagagccccttAtaagagctaccgaaattctt	15	9	8	9	1	1	2	0	0	1	2	1	5	1	2	3	0	4	2	3	0	6	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:141162963A>G	ENST00000514251.1	+	4	2012	c.1733A>G	c.(1732-1734)tAt>tGt	p.Y578C	ZBTB38_ENST00000441582.2_Missense_Mutation_p.Y578C|ZBTB38_ENST00000321464.5_Missense_Mutation_p.Y579C					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGCCCCTTATAAGAGCTAC	0.408																																						uc010hup.3																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(1735-1737)tAt>tGt		Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.							63	61	61					3																	141162963		1838	4097	5935	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162963A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1733A>G	3.37:g.141162963A>G	ENSP00000426387:p.Tyr578Cys					ZBTB38_uc003etw.3_Missense_Mutation_p.Y578C|ZBTB38_uc010hun.3_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.3_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.3_Missense_Mutation_p.Y578C|ZBTB38_uc021xes.1_Missense_Mutation_p.Y578C	p.Y579C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			1	1783	+			578						Missense_Mutation	SNP	ENST00000514251.1	37	c.1736A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920226	0.52653	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.12039	3.35;2.72;2.72;2.72	5.69	3.26	0.37387	.	0.233180	0.36555	N	0.002521	T	0.28300	0.0699	M	0.66939	2.045	0.34499	D	0.705847	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	T	0.31724	-0.9933	9	.	.	.	-12.0748	8.0794	0.30735	0.724:0.1415:0.0:0.1345	.	579;578	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	C	578;578;578;579	ENSP00000424254:Y578C;ENSP00000426387:Y578C;ENSP00000406955:Y578C;ENSP00000372635:Y579C	.	Y	+	2	0	ZBTB38	142645653	1.000000	0.71417	0.863000	0.33907	0.930000	0.56654	6.800000	0.75165	0.406000	0.25560	-0.264000	0.10439	TAT		0.408	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			G	141162963	A	G	141162963	3	3	173	1	0	0	0	0	1	0	0	0	17536	449	16	4	1735	4	ZBTB38	3	141162963	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	3363547	141162963	56859467	16	12277											
TRIML1	339976	broad.mit.edu	37	chr4	189068016	189068016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacagctaatgcctatctCgtgttgtcggaggatctgaa	9	11	11	10	2	2	1	0	1	2	0	4	3	2	3	2	2	2	2	2	2	3	3	rs201972598	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr4:189068016C>T	ENST00000332517.3	+	6	1037	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L299L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512													c|||	2	0.000399361	0	0	5008	,	,		19111	0.001		0	False		,,,				2504	0.001				Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			2	Substitution - coding silent(2)	p.L299L(4)	lung(2)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(895-897)ctC>ctT		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							152	152	152					4																	189068016		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068016C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.897C>T	4.37:g.189068016C>T						TRIML1_uc003izn.1_Silent_p.L23L	p.L299L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1012	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	299			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.897C>T	CCDS3851.1																																																																																				0.512	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189068016	C	T	189068016	2	4	173	1	0	0	0	0	0	0	0	1	16547	871	31	2		2	TRIML1	4	189068016	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08		189068016	2086260	17	12278											
CNOT8	9337	broad.mit.edu	37	chr5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgttttttagagaggAcatgtactcccaggattcca	10	13	8	10	0	0	1	0	0	0	1	2	4	2	3	3	2	1	2	3	2	2	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr5:154250226A>G	ENST00000517876.1	+	5	793	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	106					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393																																					NSCLC(140;1804 1895 27149 29895 35312)	uc003lvu.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(316-318)gAc>gGc		Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.							123	116	118					5																	154250226		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250226A>G	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.317A>G	5.37:g.154250226A>G	ENSP00000430493:p.Asp106Gly					CNOT8_uc011ddf.2_5'UTR|CNOT8_uc011ddg.2_5'UTR|CNOT8_uc011ddh.2_Intron|CNOT8_uc003lvv.3_Missense_Mutation_p.D106G|CNOT8_uc010jig.3_5'UTR|CNOT8_uc010jif.3_5'UTR|CNOT8_uc003lvw.3_Missense_Mutation_p.D106G|CNOT8_uc011ddi.2_5'UTR|CNOT8_uc011ddj.2_Intron	p.D106G	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	796	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	106					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.317A>G	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833278	0.91036	.	.	ENSG00000155508	ENST00000517876;ENST00000520472;ENST00000519211;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.54	5.54	0.83059	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81118	-0.1078	10	0.87932	D	0	-20.7976	15.6768	0.77332	1.0:0.0:0.0:0.0	.	106	Q9UFF9	CNOT8_HUMAN	G	106;106;106;106;106;106;83	ENSP00000430493:D106G;ENSP00000430215:D106G;ENSP00000429108:D106G;ENSP00000384747:D106G;ENSP00000428090:D106G;ENSP00000285896:D106G	ENSP00000285896:D106G	D	+	2	0	CNOT8	154230419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.731000	0.91529	2.102000	0.63906	0.454000	0.30748	GAC		0.393	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		G	154250226	A	G	154250226	3	3	173	1	0	0	0	0	1	0	0	0	3625	275	10	4	327	4	CNOT8	5	154250226	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08		154250226	26665034	18	12279											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107726	26107726	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgtggcctttctaacaTtaacttcatgatgttgggtc	9	16	9	7	0	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	3	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:26107726T>A	ENST00000338379.4	-	1	638	c.596A>T	c.(595-597)aAt>aTt	p.N199I		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	199					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTTCTAACATTAACTTCATG	0.448																																						uc003ngj.3																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(595-597)aAt>aTt		Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.							118	113	115					6																	26107726		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107726T>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.596A>T	6.37:g.26107726T>A	ENSP00000341214:p.Asn199Ile						p.N199I	NM_005323	NP_005314	P22492	H1T_HUMAN			0	639	-			199					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.596A>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183171	0.38511	.	.	ENSG00000187475	ENST00000338379	T	0.04406	3.63	4.61	-0.578	0.11724	.	0.330918	0.29522	N	0.011911	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.50242	-0.8851	10	0.87932	D	0	-15.3139	8.3576	0.32340	0.0:0.3515:0.0:0.6485	.	199	P22492	H1T_HUMAN	I	199	ENSP00000341214:N199I	ENSP00000341214:N199I	N	-	2	0	HIST1H1T	26215705	0.212000	0.23540	0.000000	0.03702	0.001000	0.01503	0.547000	0.23299	-0.241000	0.09681	0.533000	0.62120	AAT		0.448	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		A	26107726	T	A	26107726	3	1	173	1	0	0	0	0	1	0	0	0	7127	1493	52	5	31	5	HIST1H1T	6	26107726	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		26107726	145007341	19	12280											
NCOA7	135112	broad.mit.edu	37	chr6	126210501	126210501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaatgcacaaaaaagAcaccttgaaggagtgccttt	14	9	11	7	0	0	2	0	1	0	1	0	4	0	4	2	3	2	1	2	3	5	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:126210501A>T	ENST00000368357.3	+	10	1653	c.1301A>T	c.(1300-1302)gAc>gTc	p.D434V	NCOA7_ENST00000229634.9_Missense_Mutation_p.D319V|NCOA7_ENST00000392477.2_Missense_Mutation_p.D434V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	434					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CACAAAAAAGACACCTTGAAG	0.423																																						uc003qai.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(1300-1302)gAc>gTc		Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.							60	64	63					6																	126210501		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210501A>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1301A>T	6.37:g.126210501A>T	ENSP00000357341:p.Asp434Val					NCOA7_uc010kes.3_Missense_Mutation_p.D434V|NCOA7_uc003qae.4_Missense_Mutation_p.D434V|NCOA7_uc010ket.3_Missense_Mutation_p.D319V|NCOA7_uc003qah.3_Missense_Mutation_p.D423V	p.D434V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	8	1670	+			434					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1301A>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	4.474	0.087758	0.08583	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.32272	2.72;2.72;2.74;1.46	5.28	2.92	0.33932	.	0.553801	0.19647	N	0.109313	T	0.06872	0.0175	L	0.27053	0.805	0.26849	N	0.968195	B;P;P	0.42296	0.22;0.775;0.666	B;B;B	0.37304	0.022;0.246;0.125	T	0.14008	-1.0488	10	0.56958	D	0.05	-9.1616	3.5998	0.08020	0.5559:0.0:0.2498:0.1943	.	423;423;434	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	V	434;434;319;232	ENSP00000357341:D434V;ENSP00000376269:D434V;ENSP00000229634:D319V;ENSP00000389186:D232V	ENSP00000229634:D319V	D	+	2	0	NCOA7	126252194	0.978000	0.34361	0.403000	0.26384	0.009000	0.06853	2.450000	0.44943	0.473000	0.27368	0.533000	0.62120	GAC		0.423	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		T	126210501	A	T	126210501	3	4	173	1	0	0	0	0	1	0	0	0	10234	275	10	5	1331	5	NCOA7	6	126210501	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	100102775	126210501	44904566	20	12281											
TNRC18	84629	broad.mit.edu	37	chr7	5354614	5354614	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggggaccaggccaacctaCcacccttggccttggcgctg	6	7	12	16	1	0	0	0	0	0	0	0	1	0	1	6	5	2	1	6	5	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:5354614C>A	ENST00000430969.1	-	26	7376		c.e26+1		TNRC18_ENST00000399537.4_Missense_Mutation_p.G2343V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCAACCTACCACCCTTGGC	0.672																																						uc003soi.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.e26+1		Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.							20	22	22					7																	5354614		1567	3579	5146	SO:0001630	splice_region_variant	84629						DNA binding	g.chr7:5354614C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7027+1G>T	7.37:g.5354614C>A							p.D2343_splice	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	26	7376	-		Ovarian(82;0.142)	2343					A8MX41|Q96JH1|Q96K91	Splice_Site	SNP	ENST00000430969.1	37	c.7027_splice	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	14.38|14.38	2.517824|2.517824	0.44763|0.44763	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000430969;ENST00000328270|ENST00000399537	.|T	.|0.14516	.|2.5	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|.	.|.	.|.	.|.	.|T	.|0.25195	.|0.0612	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00668	.|-1.1618	.|6	.|0.29301	.|T	.|0.29	.|.	15.7741|15.7741	0.78198|0.78198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|2343	.|ENSP00000382452:G2343V	.|ENSP00000382452:G2343V	.|G	-|-	.|2	.|0	TNRC18|TNRC18	5321140|5321140	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.448000|0.448000	0.32197|0.32197	2.643000|2.643000	0.46604|0.46604	2.380000|2.380000	0.81148|0.81148	0.561000|0.561000	0.74099|0.74099	.|GGT		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Intron	A	5354614	C	A	5354614	5	1	173	1	0	0	0	0	0	0	1	0	16336	521	18	5	1898	5	TNRC18	7	5354614	Splice_Site	SNP	C	TCGA-26-1442-01A-01D-1696-08		5354614	153784049	21	12282											
OGDH	4967	broad.mit.edu	37	chr7	44747273	44747273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaggagcacaagaaccaAggctactatgactacgtgaa	16	5	11	9	1	0	3	0	2	0	1	0	5	0	5	1	3	4	2	1	3	7	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:44747273A>G	ENST00000222673.5	+	22	2931	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	OGDH_ENST00000447398.1_Silent_p.Q974Q|OGDH_ENST00000444676.1_Silent_p.Q978Q|OGDH_ENST00000439616.2_Silent_p.Q813Q|OGDH_ENST00000543843.1_Silent_p.Q914Q|OGDH_ENST00000449767.1_Silent_p.Q959Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	963					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACAAGAACCAAGGCTACTATG	0.592																																						uc003tln.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2887-2889)caA>caG		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						122	100	108					7																	44747273		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747273A>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2889A>G	7.37:g.44747273A>G						OGDH_uc011kbx.2_Silent_p.Q959Q|OGDH_uc011kby.2_Silent_p.Q813Q|OGDH_uc003tlp.3_Silent_p.Q974Q|OGDH_uc011kbz.2_Silent_p.Q758Q	p.Q963Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN			21	3048	+			963					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2889A>G	CCDS34627.1																																																																																				0.592	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			G	44747273	A	G	44747273	2	3	173	1	0	0	0	0	0	0	0	1	10839	69	3	4		4	OGDH	7	44747273	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	39392659	44747273	114391390	22	12283											
ERLIN2	11160	broad.mit.edu	37	chr8	37611537	37611537	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaacatgttcatggactcTgcgggcagtgtgagcaagca	10	9	12	10	1	2	1	1	1	1	0	2	2	2	2	1	2	4	4	1	2	2	2	rs574464016		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:37611537T>C	ENST00000276461.5	+	12	991	c.924T>C	c.(922-924)tcT>tcC	p.S308S	ERLIN2_ENST00000519638.1_Silent_p.S308S	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	308	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCATGGACTCTGCGGGCAGTG	0.463													T|||	1	0.000199681	0	0	5008	,	,		19297	0.001		0	False		,,,				2504	0					uc003xke.4																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(922-924)tcT>tcC		Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.							110	97	101					8																	37611537		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611537T>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.924T>C	8.37:g.37611537T>C							p.S308S	NM_007175	NP_009106	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	1039	+		Lung NSC(58;0.174)	308			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.924T>C	CCDS6095.1																																																																																				0.463	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		C	37611537	T	C	37611537	2	2	173	1	0	0	0	0	0	0	0	1	5233	1567	55	4		4	ERLIN2	8	37611537	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08		37611537	108752485	23	12284											
LAPTM4B	55353	broad.mit.edu	37	chr8	98863639	98863639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggtgctgctacccccGtatgatgatgccactgtgaa	8	11	10	12	1	1	3	1	3	1	0	2	3	1	3	3	1	4	3	3	1	3	2	rs147233429	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:98863639G>A	ENST00000521545.2	+	7	852	c.618G>A	c.(616-618)ccG>ccA	p.P206P	LAPTM4B_ENST00000445593.2_Silent_p.P297P			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	350					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TGCTACCCCCGTATGATGATG	0.527																																						uc003yia.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(889-891)ccG>ccA		Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.							168	133	145					8																	98863639		2203	4300	6503	SO:0001819	synonymous_variant	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98863639G>A	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.618G>A	8.37:g.98863639G>A						LAPTM4B_uc010mbg.3_Silent_p.P129P	p.P297P	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		6	1047	+	Breast(36;1.59e-06)		350					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Silent	SNP	ENST00000521545.2	37	c.891G>A																																																																																					0.527	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			A	98863639	G	A	98863639	2	1	173	1	0	0	0	0	0	0	0	1	8625	1132	40	1		1	LAPTM4B	8	98863639	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	61252102	98863639	47500383	24	12285											
C9orf79	286234	broad.mit.edu	37	chr9	90499950	90499950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggaaatgcatgcaagAtccgtctcctgccagcttgt	9	10	11	11	1	1	1	0	0	1	1	3	2	2	2	3	1	4	4	3	1	2	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:90499950A>G	ENST00000325643.5	+	4	614	c.548A>G	c.(547-549)gAt>gGt	p.D183G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	183	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D183V(1)									TGCATGCAAGATCCGTCTCCT	0.627																																						uc004app.4																			1	Substitution - Missense(1)	p.D183V(1)	lung(1)								c.(547-549)gAt>gGt		Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.							77	80	79					9																	90499950		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90499950A>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.548A>G	9.37:g.90499950A>G	ENSP00000322640:p.Asp183Gly					FAM75E1_uc004apo.1_Intron	p.D183G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			3	583	+			183			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.548A>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	8.579	0.881905	0.17467	.	.	ENSG00000177992	ENST00000325643	T	0.05717	3.4	2.35	1.21	0.21127	.	0.898653	0.09189	N	0.836249	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	P	0.50528	0.936	P	0.50934	0.654	T	0.27020	-1.0086	10	0.33940	T	0.23	.	3.2097	0.06678	0.7204:0.0:0.2796:0.0	.	183	Q6ZUB1	CI079_HUMAN	G	183	ENSP00000322640:D183G	ENSP00000322640:D183G	D	+	2	0	C9orf79	89689770	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.287000	0.18920	0.354000	0.24105	0.416000	0.27883	GAT		0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90499950	A	G	90499950	3	3	173	1	0	0	0	0	1	0	0	0	2497	333	12	4	562	4	C9orf79	9	90499950	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08		90499950	50713481	25	12286											
AK1	203	broad.mit.edu	37	chr9	130630690	130630691	+	Frame_Shift_Ins	INS	-	-	T																															gctttttgatggtctcctcaINSttgtcgtccacacgcccgct																										TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:130630690_130630691insT	ENST00000373176.1	-	6	577_578	c.425_426insA	c.(424-426)aatfs	p.N142fs	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Frame_Shift_Ins_p.N142fs|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000223836.10_Frame_Shift_Ins_p.N158fs	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TGGTCTCCTCATTGTCGTCCAC	0.574																																						uc004bsm.4																			0				endometrium(1)|prostate(1)	2						c.(424-426)aatfs		Homo sapiens adenylate kinase 1 (AK1), mRNA.																																				SO:0001589	frameshift_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130630690_130630691insT	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.426dupA	9.37:g.130630692_130630692dupT	ENSP00000362271:p.Asn142fs						p.N142fs	NM_000476	NP_000467	P00568	KAD1_HUMAN			5	578_579	-			142						Frame_Shift_Ins	INS	ENST00000373176.1	37	c.425_426insA	CCDS6881.1																																																																																				0.574	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			T	130630691	-	T	130630690	7	5	173	1	0	1	1	0	0	0	0	0	439	214	8	0	166	0	AK1	9	130630690	Frame_Shift_Ins	INS	-	TCGA-26-1442-01A-01D-1696-08	40130740	130630690	10582741	26	12287											
DLG5	9231	broad.mit.edu	37	chr10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtgtcagaggccccGccctcttggagggctgggga	4	8	19	10	1	2	1	1	0	1	1	2	3	2	3	3	7	0	1	3	7	0	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:79581222G>A	ENST00000372391.2	-	15	3025	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1007	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3019-3021)gCg>gTg		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							37	48	44					10																	79581222		2083	4112	6195	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581222G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3020C>T	10.37:g.79581222G>A	ENSP00000361467:p.Ala1007Val					DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.A611V	p.A1007V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		14	3090	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1007			Pro-rich.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3020C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	5.801	0.332030	0.10956	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04119	3.7	5.87	-1.85	0.07784	.	0.969624	0.08390	N	0.953021	T	0.04137	0.0115	L	0.44542	1.39	0.24179	N	0.995594	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.48328	-0.9045	10	0.15499	T	0.54	.	6.0329	0.19690	0.2783:0.0:0.4441:0.2776	.	897;1007	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	V	1007;556	ENSP00000361467:A1007V	ENSP00000361467:A1007V	A	-	2	0	DLG5	79251228	0.870000	0.30015	0.030000	0.17652	0.030000	0.12068	2.301000	0.43628	-0.156000	0.11079	-0.345000	0.07892	GCG		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79581222	G	A	79581222	3	1	173	1	0	0	0	0	1	0	0	0	4558	1087	38	1	2811	1	DLG5	10	79581222	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		79581222	55953525	27	12288											
CDHR1	92211	broad.mit.edu	37	chr10	85972090	85972090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcacactgctggatgtcaAtgaccacccccctcagtttg	9	11	7	14	0	3	1	3	1	0	0	3	2	3	2	4	1	1	2	4	1	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:85972090A>G	ENST00000372117.3	+	15	1812	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	CDHR1_ENST00000332904.3_Missense_Mutation_p.N570S|CDHR1_ENST00000440770.2_Missense_Mutation_p.N274S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	570	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGATGTCAATGACCACCCC	0.522																																						uc001kcv.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1708-1710)aAt>aGt		Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.							168	148	154					10																	85972090		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972090A>G	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1709A>G	10.37:g.85972090A>G	ENSP00000361189:p.Asn570Ser					CDHR1_uc001kcw.3_Missense_Mutation_p.N570S|CDHR1_uc009xst.3_Missense_Mutation_p.N274S|CDHR1_uc001kcx.3_5'Flank	p.N570S	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			14	1814	+			570			Cadherin 5.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1709A>G	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193432	0.58017	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	D;D;D	0.85171	-1.95;-1.95;-1.95	5.0	5.0	0.66597	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.046593	0.85682	D	0.000000	D	0.94555	0.8246	H	0.96301	3.8	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.78314	0.991;0.988;0.891	D	0.96032	0.9017	10	0.87932	D	0	-19.873	13.9879	0.64348	1.0:0.0:0.0:0.0	.	274;570;570	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	S	570;570;274	ENSP00000331063:N570S;ENSP00000361189:N570S;ENSP00000415980:N274S	ENSP00000331063:N570S	N	+	2	0	CDHR1	85962070	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	8.843000	0.92142	2.022000	0.59522	0.533000	0.62120	AAT		0.522	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		G	85972090	A	G	85972090	3	3	173	1	0	0	0	0	1	0	0	0	3118	101	4	4	1767	4	CDHR1	10	85972090	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	6390868	85972090	49562657	28	12289											
TRPM5	29850	broad.mit.edu	37	chr11	2434731	2434731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgaggttggtatagaCgagggcggggcagaggaagg	10	6	22	3	2	0	4	0	2	0	2	0	6	0	5	0	8	0	3	0	8	3	3	rs149949624	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:2434731C>T	ENST00000155858.6	-	13	1986	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	TRPM5_ENST00000452833.1_Missense_Mutation_p.V662I|TRPM5_ENST00000528453.1_Missense_Mutation_p.V660I|TRPM5_ENST00000533060.1_Missense_Mutation_p.V660I	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGTATAGACGAGGGCGGGG	0.677																																					NSCLC(1;49 61 17205 18850 43201)	uc010qxl.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1978-1980)Gtc>Atc		Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.		C	ILE/VAL	2,4394	4.2+/-10.8	0,2,2196	42	43	43		1978	-7.9	0.4	11	dbSNP_134	43	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TRPM5	NM_014555.3	29	0,5,6492	TT,TC,CC		0.0349,0.0455,0.0385	benign	660/1166	2434731	5,12989	2198	4299	6497	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2434731C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1978G>A	11.37:g.2434731C>T	ENSP00000155858:p.Val660Ile					TRPM5_uc001lwm.4_Missense_Mutation_p.V660I|TRPM5_uc009ydn.3_Missense_Mutation_p.V662I	p.V660I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	12	1987	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	660						Missense_Mutation	SNP	ENST00000155858.6	37	c.1978G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.501289	0.01001	4.55E-4	3.49E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	3.97	-7.94	0.01152	.	0.222160	0.37219	N	0.002194	T	0.19208	0.0461	N	0.00707	-1.245	0.27144	N	0.961587	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.44907	-0.9297	10	0.02654	T	1	-10.0548	6.5943	0.22664	0.0:0.2965:0.2272:0.4763	.	660;662;660	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	I	654;660;662;660;660;660	ENSP00000434383:V654I;ENSP00000155858:V660I;ENSP00000387965:V662I;ENSP00000434121:V660I;ENSP00000436809:V660I	ENSP00000155858:V660I	V	-	1	0	TRPM5	2391307	0.009000	0.17119	0.445000	0.26908	0.096000	0.18686	-0.345000	0.07770	-1.690000	0.01432	-1.800000	0.00619	GTC		0.677	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2434731	C	T	2434731	3	4	173	1	0	0	0	0	1	0	0	0	16586	536	19	1	1567	1	TRPM5	11	2434731	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		2434731	132571785	29	12290											
OR52B6	340980	broad.mit.edu	37	chr11	5602310	5602310	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcatcctaatttgtgtCatcctctcccaggcaatcct	9	13	6	13	0	2	0	1	0	1	0	6	0	5	0	4	2	0	2	4	2	3	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5602310C>A	ENST00000345043.2	+	1	204	c.204C>A	c.(202-204)gtC>gtA	p.V68V	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTTGTGTCATCCTCTCCC	0.522																																						uc010qzi.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(202-204)gtC>gtA		Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.							163	158	160					11																	5602310		2152	4263	6415	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602310C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.204C>A	11.37:g.5602310C>A						HBG1_uc001mak.1_Intron	p.V68V	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	204	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	68					Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.204C>A	CCDS41611.1																																																																																				0.522	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		A	5602310	C	A	5602310	2	1	173	1	0	0	0	0	0	0	0	1	11113	813	29	5		5	OR52B6	11	5602310	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08	3167579	5602310	129404206	30	12291											
TRIM34	53840	broad.mit.edu	37	chr11	5656037	5656037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcagttggtgagagaGctcatctcagatgtggagtg	11	9	15	6	0	2	4	2	1	1	3	3	6	2	5	0	2	2	3	0	2	1	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5656037G>T	ENST00000514226.1	+	4	1033	c.696G>T	c.(694-696)gaG>gaT	p.E232D	TRIM34_ENST00000429814.2_Missense_Mutation_p.E232D|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E586D|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E232D	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	232					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGAGAGCTCATCTCAG	0.488																																						uc001mbh.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(694-696)gaG>gaT		Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.							127	111	116					11																	5656037		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5656037G>T	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.696G>T	11.37:g.5656037G>T	ENSP00000422947:p.Glu232Asp					HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.E586D|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.E232D|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.E232D	p.E232D	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	3	853	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	586					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.696G>T	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231523	0.09969	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	3.51	0.404	0.16355	.	0.231155	0.22145	N	0.063995	T	0.03477	0.0100	L	0.52206	1.635	0.22096	N	0.999366	B;B;B	0.24258	0.043;0.013;0.1	B;B;B	0.29942	0.045;0.02;0.109	T	0.40534	-0.9558	10	0.27785	T	0.31	.	1.6478	0.02765	0.1262:0.2112:0.4459:0.2167	.	232;232;586	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	D	586;232;232;232;586	ENSP00000422947:E232D;ENSP00000402595:E232D;ENSP00000395982:E232D;ENSP00000346916:E586D	ENSP00000402595:E232D	E	+	3	2	TRIM34;TRIM6-TRIM34	5612613	0.000000	0.05858	0.871000	0.34182	0.162000	0.22319	-1.289000	0.02780	0.094000	0.17404	0.655000	0.94253	GAG		0.488	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		T	5656037	G	T	5656037	3	4	173	1	0	0	0	0	1	0	0	0	16505	962	34	5	706	5	TRIM34	11	5656037	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	53727	5656037	129350479	31	12292											
MRVI1	10335	broad.mit.edu	37	chr11	10673684	10673684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgtgcccggaacctccGctgcgtcagccccaaagatg	8	6	11	16	4	1	1	1	0	0	1	2	2	2	2	5	1	4	1	5	1	2	0	rs368754767		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:10673684G>A	ENST00000436272.1	-	1	164	c.86C>T	c.(85-87)gCg>gTg	p.A29V	MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.A38V|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.A38V|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.A29V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A29V|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000547195.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	29					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGAACCTCCGCTGCGTCAGC	0.647																																						uc010rcc.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(112-114)gCg>gTg		Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.		G	VAL/ALA,,,VAL/ALA,,VAL/ALA	1,4069		0,1,2034	22	28	26		86,,,113,,113	0.6	0.9	11		26	0,8382		0,0,4191	no	missense,intron,utr-5,missense,intron,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	64,,,64,,64	0,1,6225	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging,,,possibly-damaging,,possibly-damaging	29/905,,,38/707,,38/913	10673684	1,12451	2035	4191	6226	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10673684G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.86C>T	11.37:g.10673684G>A	ENSP00000412229:p.Ala29Val					MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	p.A38V	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	1	499	-			29					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.113C>T		.	.	.	.	.	.	.	.	.	.	G	14.85	2.658583	0.47467	2.46E-4	0.0	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107	T;T;T;T;T	0.21543	2.86;2.86;2.5;2.0;2.86	5.26	0.588	0.17445	.	0.443560	0.19317	N	0.117257	T	0.12561	0.0305	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.18461	0.003;0.016;0.016;0.028	B;B;B;B	0.10450	0.003;0.002;0.002;0.005	T	0.08351	-1.0726	10	0.87932	D	0	-2.8033	6.0099	0.19569	0.0965:0.0:0.3244:0.5791	.	38;29;29;29	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	29;29;29;38;38;29	ENSP00000414598:A29V;ENSP00000412229:A29V;ENSP00000412130:A38V;ENSP00000437784:A38V;ENSP00000432436:A29V	ENSP00000307885:A29V	A	-	2	0	MRVI1	10630260	0.999000	0.42202	0.921000	0.36526	0.802000	0.45316	1.030000	0.30153	0.238000	0.21222	-1.028000	0.02416	GCG		0.647	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		A	10673684	G	A	10673684	3	1	173	1	0	0	0	0	1	0	0	0	9853	1087	38	1	2705	1	MRVI1	11	10673684	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5017647	10673684	124332832	32	12293											
MS4A8B	83661	broad.mit.edu	37	chr11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggctccatcatggCgacggttctcgtaggggaat	6	9	14	12	5	2	0	1	0	1	0	5	2	3	1	2	6	0	3	2	6	2	2	rs572019233		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:60470903C>T	ENST00000300226.2	+	3	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	91						integral component of membrane (GO:0016021)											TCCATCATGGCGACGGTTCTC	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		15713	0		0	False		,,,				2504	0					uc001npv.3																			0		p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(271-273)gCg>gTg		Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.							146	133	137					11																	60470903		2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60470903C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.272C>T	11.37:g.60470903C>T	ENSP00000300226:p.Ala91Val					MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			2	475	+			91					Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.272C>T	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733032|-1.733032	0.00687|0.00687	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226;ENST00000529752|ENST00000525458	T;T|.	0.02446|.	4.29;4.29|.	3.62|3.62	-7.24|-7.24	0.01475|0.01475	.|.	2.684580|.	0.01449|.	N|.	0.015388|.	T|.	0.11580|.	0.0282|.	N|N	0.02685|0.02685	-0.53|-0.53	0.09310|0.09310	N|N	1|1	B;B|.	0.14805|.	0.011;0.001|.	B;B|.	0.09377|.	0.004;0.001|.	T|.	0.27191|.	-1.0081|.	10|.	0.11485|.	T|.	0.65|.	0.0772|0.0772	8.0544|8.0544	0.30596|0.30596	0.0:0.1354:0.3924:0.4722|0.0:0.1354:0.3924:0.4722	.|.	91;91|.	E9PQE1;Q9BY19|.	.;M4A8B_HUMAN|.	V|X	91|73	ENSP00000300226:A91V;ENSP00000436857:A91V|.	ENSP00000300226:A91V|.	A|R	+|+	2|1	0|2	MS4A8B|MS4A8B	60227479|60227479	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.321000|-3.321000	0.00513|0.00513	-3.018000|-3.018000	0.00270|0.00270	-1.419000|-1.419000	0.01111|0.01111	GCG|CGA		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			T	60470903	C	T	60470903	3	4	173	1	0	0	0	0	1	0	0	0	9867	768	27	1	278	1	MS4A8B	11	60470903	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	49797219	60470903	74535613	33	12294											
HRASLS5	117245	broad.mit.edu	37	chr11	63257740	63257740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgcttctgccctgttCtaatgtgcccggcggaggct	4	12	13	12	2	2	0	0	0	2	0	2	2	2	2	2	4	3	3	2	4	1	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:63257740C>G	ENST00000301790.4	-	2	403	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HRASLS5_ENST00000539221.1_Missense_Mutation_p.E82Q|HRASLS5_ENST00000540857.1_Missense_Mutation_p.E72Q			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	82							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGCCCTGTTCTAATGTGCCC	0.498																																						uc001nwy.2																			0		p.L81L(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(244-246)Gaa>Caa		Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.							194	219	210					11																	63257740		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257740C>G	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.244G>C	11.37:g.63257740C>G	ENSP00000301790:p.Glu82Gln					HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_Non-coding_Transcript	p.E82Q	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			1	418	-			82					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.244G>C	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790678	0.50102	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.37915	1.19;1.67;1.17	3.89	2.95	0.34219	.	5.895030	0.00465	N	0.000119	T	0.46210	0.1381	L	0.32530	0.975	0.09310	N	1	D;B;B	0.57257	0.979;0.129;0.2	P;B;B	0.55785	0.784;0.081;0.055	T	0.38415	-0.9662	10	0.87932	D	0	-9.8589	9.4682	0.38826	0.0:0.7843:0.2157:0.0	.	82;72;82	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	Q	72;82;82	ENSP00000444809:E72Q;ENSP00000443873:E82Q;ENSP00000301790:E82Q	ENSP00000301790:E82Q	E	-	1	0	HRASLS5	63014316	0.062000	0.20869	0.018000	0.16275	0.024000	0.10985	0.716000	0.25836	1.191000	0.43056	0.655000	0.94253	GAA		0.498	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		G	63257740	C	G	63257740	3	3	173	1	0	0	0	0	1	0	0	0	7351	922	32	5	615	5	HRASLS5	11	63257740	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	2786837	63257740	71748776	34	12295											
PFKM	5213	broad.mit.edu	37	chr12	48529142	48529142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcagaggggtgggacGccatcagcctttgacagaat	10	8	14	9	1	1	3	1	1	0	2	1	4	1	4	2	3	2	1	2	3	1	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:48529142G>A	ENST00000312352.7	+	10	951	c.912G>A	c.(910-912)acG>acA	p.T304T	PFKM_ENST00000547587.1_Silent_p.T304T|PFKM_ENST00000340802.6_Silent_p.T375T|PFKM_ENST00000359794.5_Silent_p.T304T|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000395233.2_Intron	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	304	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGTGGGACGCCATCAGCCT	0.572																																						uc001rrb.2																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1123-1125)acG>acA		Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.							126	104	111					12																	48529142		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48529142G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.912G>A	12.37:g.48529142G>A						PFKM_uc001rra.2_5'UTR|PFKM_uc001rrc.3_Silent_p.T304T|PFKM_uc001rrd.3_5'UTR|PFKM_uc001rre.2_Silent_p.T304T|PFKM_uc021qxj.1_Silent_p.T304T|PFKM_uc001rrg.2_Intron	p.T375T	NM_001166686	NP_001160160	P08237	K6PF_HUMAN			11	1399	+			304					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.1125G>A	CCDS8760.1																																																																																				0.572	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		A	48529142	G	A	48529142	2	1	173	1	0	0	0	0	0	0	0	1	11765	1074	38	1		1	PFKM	12	48529142	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08		48529142	85322753	35	12296											
ESPL1	9700	broad.mit.edu	37	chr12	53663316	53663316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctccaacagcctgtcGagcggtagctgcccatcagc	7	9	10	15	2	2	0	1	0	1	0	4	1	2	0	3	1	7	3	3	1	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53663316G>T	ENST00000257934.4	+	3	681	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ESPL1_ENST00000552462.1_Missense_Mutation_p.R197L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	197					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACAGCCTGTCGAGCGGTAGCT	0.517																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(589-591)cGa>cTa		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							233	238	236					12																	53663316		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663316G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.590G>T	12.37:g.53663316G>T	ENSP00000257934:p.Arg197Leu					ESPL1_uc001scj.2_5'UTR	p.R197L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			2	681	+			197						Missense_Mutation	SNP	ENST00000257934.4	37	c.590G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930046	0.34096	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.12147	2.71;2.71	5.11	2.22	0.28083	.	0.355296	0.27052	N	0.021163	T	0.12305	0.0299	M	0.68317	2.08	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.20371	-1.0277	10	0.33141	T	0.24	.	2.8667	0.05603	0.3058:0.0:0.4965:0.1978	.	197	Q14674	ESPL1_HUMAN	L	197	ENSP00000257934:R197L;ENSP00000449831:R197L	ENSP00000257934:R197L	R	+	2	0	ESPL1	51949583	0.999000	0.42202	0.394000	0.26270	0.853000	0.48598	4.946000	0.63576	0.810000	0.34279	0.561000	0.74099	CGA		0.517	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53663316	G	T	53663316	3	4	173	1	0	0	0	0	1	0	0	0	5253	1058	37	5	596	5	ESPL1	12	53663316	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5134174	53663316	80188579	36	12297											
SP1	6667	broad.mit.edu	37	chr12	53804896	53804896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccactccttcagcccttAttaccaccaatatggtagcc	9	11	5	16	0	1	0	1	0	0	0	2	0	2	0	6	1	4	1	6	1	5	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53804896A>T	ENST00000327443.4	+	6	2328	c.2230A>T	c.(2230-2232)Att>Ttt	p.I744F	SP1_ENST00000426431.2_Missense_Mutation_p.I737F	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	744	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TTCAGCCCTTATTACCACCAA	0.572																																						uc001scw.3																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2230-2232)Att>Ttt		Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.							108	93	98					12																	53804896		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804896A>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2230A>T	12.37:g.53804896A>T	ENSP00000329357:p.Ile744Phe					SP1_uc021qyf.1_Missense_Mutation_p.I696F|SP1_uc010sog.2_Missense_Mutation_p.I737F	p.I744F	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	5	2327	+			744			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2230A>T	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.574948	0.65878	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08458	3.12;3.09	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000024	T	0.11495	0.0280	N	0.19112	0.55	0.58432	D	0.999993	D	0.65815	0.995	P	0.53185	0.72	T	0.04565	-1.0942	10	0.87932	D	0	.	14.2115	0.65767	1.0:0.0:0.0:0.0	.	744	P08047	SP1_HUMAN	F	744;737	ENSP00000329357:I744F;ENSP00000404263:I737F	ENSP00000329357:I744F	I	+	1	0	SP1	52091163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.548000	0.60718	2.254000	0.74563	0.460000	0.39030	ATT		0.572	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			T	53804896	A	T	53804896	3	4	173	1	0	0	0	0	1	0	0	0	14959	449	16	5	2252	5	SP1	12	53804896	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	141580	53804896	80046999	37	12298											
ITGA7	3679	broad.mit.edu	37	chr12	56087909	56087909	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggggaatggccattcTggcgtggagaggtcagaaca	9	9	16	7	1	2	2	1	0	1	2	2	4	2	3	1	6	2	1	1	6	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:56087909T>C	ENST00000555728.1	-	20	2593		c.e20-2		ITGA7_ENST00000257879.6_Splice_Site|ITGA7_ENST00000257880.7_Splice_Site|ITGA7_ENST00000452168.2_Splice_Site|ITGA7_ENST00000394229.2_Splice_Site|ITGA7_ENST00000553804.1_Splice_Site|ITGA7_ENST00000394230.2_Splice_Site|ITGA7_ENST00000347027.6_Splice_Site			Q13683	ITA7_HUMAN	integrin, alpha 7						blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCCATTCTGGCGTGGAGA	0.592																																						uc001shh.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e19-1		Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.							104	77	86					12																	56087909		2203	4300	6503	SO:0001630	splice_region_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56087909T>C		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2565-2A>G	12.37:g.56087909T>C						ITGA7_uc001shg.3_Splice_Site_p.G811_splice|ITGA7_uc010sps.2_Splice_Site_p.G718_splice|ITGA7_uc009znw.3_Splice_Site_p.G58_splice|ITGA7_uc009znx.3_Splice_Site_p.G692_splice	p.G815_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			19	2665	-			855					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Splice_Site	SNP	ENST00000555728.1	37	c.2445_splice		.	.	.	.	.	.	.	.	.	.	T	11.72	1.723887	0.30593	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.627	0.62170	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA7	54374176	0.885000	0.30320	0.998000	0.56505	0.080000	0.17528	1.990000	0.40717	2.156000	0.67533	0.482000	0.46254	.		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	Intron	C	56087909	T	C	56087909	5	2	173	1	0	0	0	0	0	0	1	0	7881	1594	55	4	1010	4	ITGA7	12	56087909	Splice_Site	SNP	T	TCGA-26-1442-01A-01D-1696-08	2283013	56087909	77763986	38	12299											
MTERFD3	80298	broad.mit.edu	37	chr12	107372183	107372183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttggactacagacaattgCttccgggcagcgttccaaaa	11	9	11	10	2	0	1	0	0	0	1	2	2	2	2	2	3	3	4	2	3	4	5	rs199833664		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:107372183C>T	ENST00000552029.1	-	2	2378	c.310G>A	c.(310-312)Gca>Aca	p.A104T	MTERFD3_ENST00000392830.2_Missense_Mutation_p.A104T|MTERFD3_ENST00000240050.4_Missense_Mutation_p.A104T|C12orf23_ENST00000551237.1_3'UTR			Q49AM1	MTEF2_HUMAN		104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAGACAATTGCTTCCGGGCAG	0.423																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(310-312)Gca>Aca		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.							136	146	143					12																	107372183		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372183C>T																												ENST00000552029.1:c.310G>A	12.37:g.107372183C>T	ENSP00000447651:p.Ala104Thr					MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc021rdh.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	p.A104T	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			1	2129	-			104					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.310G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885976	0.72410	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.12255	2.7;2.7;2.7;2.71	5.82	4.01	0.46588	.	0.049069	0.85682	N	0.000000	T	0.33673	0.0871	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.02437	-1.1159	10	0.31617	T	0.26	-12.3428	12.3753	0.55277	0.0:0.8637:0.0:0.1363	.	104	Q49AM1	MTER3_HUMAN	T	104	ENSP00000376575:A104T;ENSP00000240050:A104T;ENSP00000447651:A104T;ENSP00000448343:A104T	ENSP00000240050:A104T	A	-	1	0	MTERFD3	105896313	1.000000	0.71417	0.941000	0.38009	0.557000	0.35523	4.692000	0.61746	0.808000	0.34231	-0.262000	0.10625	GCA		0.423	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			T	107372183	C	T	107372183	3	4	173	1	0	0	0	0	1	0	0	0	9921	797	28	3	851	3	MTERFD3	12	107372183	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	51284274	107372183	26479712	39	12300											
EIF2B1	1967	broad.mit.edu	37	chr12	124116941	124116941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggatggcagccactgcTgaggccatgtcaggatcttc	7	9	13	12	1	2	1	1	1	1	0	4	3	3	3	3	4	2	2	3	4	0	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:124116941T>C	ENST00000424014.2	-	2	274	c.66A>G	c.(64-66)tcA>tcG	p.S22S	EIF2B1_ENST00000539951.1_Silent_p.S9S|GTF2H3_ENST00000228955.7_5'Flank|GTF2H3_ENST00000543341.2_5'Flank|EIF2B1_ENST00000537073.1_Silent_p.S22S|EIF2B1_ENST00000543940.1_5'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	22					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGCCACTGCTGAGGCCATGT	0.398																																						uc001ufm.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(64-66)tcA>tcG		Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.							111	126	121					12																	124116941		2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124116941T>C	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.66A>G	12.37:g.124116941T>C						GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc010tat.2_Silent_p.S22S	p.S22S	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	1	285	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		22					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.66A>G	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628923	0.28978	.	.	ENSG00000111361	ENST00000534960	.	.	.	5.38	-2.33	0.06724	.	.	.	.	.	T	0.50240	0.1604	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	-9.6253	6.3727	0.21491	0.1798:0.4019:0.0:0.4183	.	.	.	.	R	38	.	.	Q	-	2	0	EIF2B1	122682894	0.008000	0.16893	0.992000	0.48379	0.998000	0.95712	-1.324000	0.02690	-0.226000	0.09899	0.455000	0.32223	CAG		0.398	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		C	124116941	T	C	124116941	2	2	173	1	0	0	0	0	0	0	0	1	5000	1567	55	4		4	EIF2B1	12	124116941	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	16744758	124116941	9734954	40	12301											
FZD10	11211	broad.mit.edu	37	chr12	130648643	130648643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaccggggtctgctacGtgggcagcatggacgtcaac	8	7	14	12	3	3	0	2	0	1	0	3	1	3	1	1	4	5	4	1	4	2	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:130648643G>A	ENST00000229030.4	+	1	1640	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	FZD10_ENST00000539839.1_Missense_Mutation_p.R353H|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	386					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTCTGCTACGTGGGCAGCAT	0.657																																						uc001uii.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1156-1158)Gtg>Atg		Homo sapiens frizzled family receptor 10 (FZD10), mRNA.							99	90	93					12																	130648643		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648643G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1156G>A	12.37:g.130648643G>A	ENSP00000229030:p.Val386Met					FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	p.V386M	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	0	1640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		386						Missense_Mutation	SNP	ENST00000229030.4	37	c.1156G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517175|2.517175	0.44763|0.44763	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|D	.|0.88509	.|-2.39	5.21|5.21	4.32|4.32	0.51571|0.51571	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.96087|0.96087	0.8725|0.8725	H|H	0.96460|0.96460	3.825|3.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.96958|0.96958	0.9699|0.9699	6|10	0.87932|0.87932	D|D	0|0	.|.	13.8021|13.8021	0.63206|0.63206	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	.|386	.|Q9ULW2	.|FZD10_HUMAN	H|M	353|386	.|ENSP00000229030:V386M	ENSP00000438460:R353H|ENSP00000229030:V386M	R|V	+|+	2|1	0|0	FZD10|FZD10	129214596|129214596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.643000|9.643000	0.98464|0.98464	1.203000|1.203000	0.43233|0.43233	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	130648643	G	A	130648643	3	1	173	1	0	0	0	0	1	0	0	0	6129	1145	40	1	1158	1	FZD10	12	130648643	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	6531702	130648643	3203252	41	12302											
C13orf26	122046	broad.mit.edu	37	chr13	31531137	31531137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcagtttatttcccttaCtaagagagactttgtggaca	13	14	7	7	0	1	2	1	0	0	2	2	4	2	3	1	1	1	1	1	1	4	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:31531137C>G	ENST00000380473.3	+	4	453	c.440C>G	c.(439-441)aCt>aGt	p.T147S	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	147																	ATTTCCCTTACTAAGAGAGAC	0.428																																						uc001uti.3																			0											c.(439-441)aCt>aGt		Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.							122	112	116					13																	31531137		2203	4300	6503	SO:0001583	missense	122046							g.chr13:31531137C>G	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.440C>G	13.37:g.31531137C>G	ENSP00000369840:p.Thr147Ser						p.T147S	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN			3	459	+			147						Missense_Mutation	SNP	ENST00000380473.3	37	c.440C>G	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905765	0.52333	.	.	ENSG00000175664	ENST00000380473	T	0.46451	0.87	4.86	3.08	0.35506	.	0.508313	0.17882	N	0.158821	T	0.46425	0.1392	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.64042	0.921	T	0.32402	-0.9908	10	0.08837	T	0.75	-21.0257	7.3301	0.26577	0.0:0.8203:0.0:0.1797	.	147	Q8N6G2	CM026_HUMAN	S	147	ENSP00000369840:T147S	ENSP00000369840:T147S	T	+	2	0	C13orf26	30429137	0.000000	0.05858	0.025000	0.17156	0.736000	0.42039	0.090000	0.15025	2.207000	0.71202	0.655000	0.94253	ACT		0.428	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		G	31531137	C	G	31531137	3	3	173	1	0	0	0	0	1	0	0	0	1722	565	20	5	454	5	C13orf26	13	31531137	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		31531137	83638741	42	12303											
SLC15A1	6564	broad.mit.edu	37	chr13	99378425	99378425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagctccgagaattggcGtcaggtagcacagagccaca	13	6	12	10	2	1	3	1	0	0	3	2	4	2	3	2	2	3	3	2	2	3	3	rs374943370		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:99378425G>A	ENST00000376503.5	-	4	252	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	66					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAGAATTGGCGTCAGGTAGCA	0.463																																						uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(196-198)aCg>aTg		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	G	MET/THR	0,4406		0,0,2203	79	66	71		197	5.3	1	13		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC15A1	NM_005073.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	66/709	99378425	1,13005	2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99378425G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.197C>T	13.37:g.99378425G>A	ENSP00000365686:p.Thr66Met					SLC15A1_uc001vnp.1_Missense_Mutation_p.T34M	p.T66M	NM_005073	NP_005064	P46059	S15A1_HUMAN			3	274	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		66					Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.197C>T	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343575	0.61073	0.0	1.16E-4	ENSG00000088386	ENST00000376503;ENST00000376494;ENST00000313260	T	0.59083	0.29	6.17	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.62266	1.93	0.80722	D	1	P;D	0.63046	0.914;0.992	B;P	0.49829	0.139;0.623	T	0.62812	-0.6775	10	0.30854	T	0.27	-13.4128	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	34;66	Q9BZ22;P46059	.;S15A1_HUMAN	M	66;34;76	ENSP00000365686:T66M	ENSP00000318937:T76M	T	-	2	0	SLC15A1	98176426	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.777000	0.68931	1.627000	0.50400	0.655000	0.94253	ACG		0.463	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		A	99378425	G	A	99378425	3	1	173	1	0	0	0	0	1	0	0	0	14398	1145	40	1	2009	1	SLC15A1	13	99378425	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	67847288	99378425	15791453	43	12304											
CHD8	57680	broad.mit.edu	37	chr14	21870120	21870120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagacagaacatgccttaGcaaaggtggaaccttttcct	13	10	8	10	0	0	2	0	0	0	2	1	3	1	3	3	2	4	1	3	2	5	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:21870120G>C	ENST00000557364.1	-	20	4321	c.4058C>G	c.(4057-4059)gCt>gGt	p.A1353G	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A1074G|CHD8_ENST00000399982.2_Missense_Mutation_p.A1353G			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1353					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACATGCCTTAGCAAAGGTGGA	0.428																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4057-4059)gCt>gGt		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							147	139	142					14																	21870120		1965	4182	6147	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870120G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4058C>G	14.37:g.21870120G>C	ENSP00000451601:p.Ala1353Gly					CHD8_uc001was.2_Missense_Mutation_p.A1074G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	p.A1353G	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	4123	-	all_cancers(95;0.00121)		1353					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4058C>G	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.773970|4.773970	0.90108|0.90108	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.86865|.	-2.18;-2.18;-2.18|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.057934|.	0.64402|.	D|.	0.000002|.	D|D	0.82733|0.82733	0.5101|0.5101	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.54047|.	0.939;0.964|.	P;P|.	0.56751|.	0.643;0.805|.	T|T	0.82121|0.82121	-0.0614|-0.0614	10|5	0.59425|.	D|.	0.04|.	-4.767|-4.767	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1353;1074|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	G|W	1074;1353;1073;1353|578	ENSP00000406288:A1074G;ENSP00000382863:A1353G;ENSP00000451601:A1353G|.	ENSP00000262707:A1073G|.	A|C	-|-	2|3	0|2	CHD8|CHD8	20939960|20939960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.813000|9.813000	0.99286|0.99286	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21870120	G	C	21870120	3	2	173	1	0	0	0	0	1	0	0	0	3331	971	34	5	3763	5	CHD8	14	21870120	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		21870120	85479420	44	12305											
NYNRIN	57523	broad.mit.edu	37	chr14	24878580	24878580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggaagcccgtggctcaagGggggctgacagatcagtcag	10	5	17	9	1	3	2	3	1	0	1	3	3	3	3	1	5	1	2	1	5	2	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:24878580G>A	ENST00000382554.3	+	4	1898	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	527					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGCTCAAGGGGGGCTGACA	0.567																																						uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1579-1581)gGg>gAg		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							36	40	38					14																	24878580		1994	4162	6156	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878580G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1580G>A	14.37:g.24878580G>A	ENSP00000371994:p.Gly527Glu						p.G527E	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	1898	+			527					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1580G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327729	0.41197	.	.	ENSG00000205978	ENST00000382554	T	0.10005	2.92	4.38	-2.13	0.07144	.	.	.	.	.	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41124	-0.9526	9	0.27785	T	0.31	.	4.9158	0.13846	0.4634:0.0:0.3964:0.1402	.	527	Q9P2P1	NYNRI_HUMAN	E	527	ENSP00000371994:G527E	ENSP00000371994:G527E	G	+	2	0	NYNRIN	23948420	0.050000	0.20438	0.001000	0.08648	0.216000	0.24613	0.330000	0.19715	-0.383000	0.07858	0.467000	0.42956	GGG		0.567	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24878580	G	A	24878580	3	1	173	1	0	0	0	0	1	0	0	0	10796	1232	43	3	1590	3	NYNRIN	14	24878580	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	3008460	24878580	82470960	45	12306											
FRMD6	122786	broad.mit.edu	37	chr14	52194629	52194629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaggaaggcctctattGcaacagttgcttggcccagc	9	9	13	10	0	1	1	0	1	1	0	1	3	1	3	2	4	4	3	2	4	3	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:52194629G>A	ENST00000344768.5	+	14	1947	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	FRMD6_ENST00000553556.1_Missense_Mutation_p.C226Y|FRMD6_ENST00000356218.4_Missense_Mutation_p.C576Y|FRMD6_ENST00000395718.2_Missense_Mutation_p.C576Y|FRMD6_ENST00000554167.1_Missense_Mutation_p.C507Y			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	584					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGCCTCTATTGCAACAGTTGC	0.468																																						uc001wzd.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1750-1752)tGc>tAc		Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.							122	98	106					14																	52194629		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52194629G>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1751G>A	14.37:g.52194629G>A	ENSP00000343899:p.Cys584Tyr					FRMD6_uc001wzb.3_Missense_Mutation_p.C576Y|FRMD6_uc001wzc.3_Missense_Mutation_p.C576Y|FRMD6_uc001wze.3_Missense_Mutation_p.C507Y|FRMD6_uc001wzf.3_Missense_Mutation_p.C277Y|FRMD6_uc001wzg.3_Missense_Mutation_p.C226Y	p.C584Y	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			13	2036	+	all_epithelial(31;0.0163)|Breast(41;0.089)		584					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1751G>A	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920931	0.73213	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	T;T;T;T	0.77098	-1.07;-1.07;-0.85;-0.65	5.96	5.07	0.68467	.	0.057733	0.64402	D	0.000001	T	0.71417	0.3337	N	0.22421	0.69	0.45284	D	0.998289	D;D;D	0.56521	0.969;0.976;0.969	P;P;P	0.47827	0.558;0.556;0.558	T	0.74615	-0.3606	10	0.54805	T	0.06	.	15.1395	0.72599	0.069:0.0:0.931:0.0	.	507;584;576	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	Y	576;576;584;507;226	ENSP00000348550:C576Y;ENSP00000379068:C576Y;ENSP00000343899:C584Y;ENSP00000451977:C507Y	ENSP00000343899:C584Y	C	+	2	0	FRMD6	51264379	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.422000	0.52749	2.832000	0.97577	0.655000	0.94253	TGC		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		A	52194629	G	A	52194629	3	1	173	1	0	0	0	0	1	0	0	0	6054	1319	46	3	1777	3	FRMD6	14	52194629	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	27316049	52194629	55154911	46	12307											
SYNE2	23224	broad.mit.edu	37	chr14	64540771	64540771	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaaaagagataattgctTtgaagaatttctttcaacag	16	13	6	6	0	3	3	2	1	1	2	3	4	3	3	0	0	2	1	0	0	6	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:64540771T>C	ENST00000344113.4	+	53	10995	c.10783T>C	c.(10783-10785)Ttg>Ctg	p.L3595L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000394768.2_5'Flank|SYNE2_ENST00000554584.1_Silent_p.L3628L|SYNE2_ENST00000555002.1_Silent_p.L229L|SYNE2_ENST00000358025.3_Silent_p.L3595L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3595					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAATTGCTTTGAAGAATTT	0.358																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10783-10785)Ttg>Ctg		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							135	132	133					14																	64540771		1831	4084	5915	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64540771T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10783T>C	14.37:g.64540771T>C						SYNE2_uc001xgm.3_Silent_p.L3595L|SYNE2_uc021ruh.1_Silent_p.L3628L|SYNE2_uc010apy.3_5'Flank|SYNE2_uc010apw.1_Silent_p.L301L|SYNE2_uc010apx.1_5'UTR	p.L3595L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	52	11013	+			3595					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.10783T>C	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64540771	T	C	64540771	2	2	173	1	0	0	0	0	0	0	0	1	15443	1838	64	4		4	SYNE2	14	64540771	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	12346142	64540771	42808769	47	12308											
TUBGCP5	114791	broad.mit.edu	37	chr15	22835924	22835924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttaatagatttcatcGtttcttggatgtcaacagcc	9	17	7	8	1	4	1	2	0	2	1	5	2	4	2	1	1	2	1	1	1	3	6	rs143778036	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr15:22835924G>T	ENST00000283645.4	+	2	285	c.155G>T	c.(154-156)cGt>cTt	p.R52L	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R52L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	52					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGATTTCATCGTTTCTTGGAT	0.368																																						uc001yuq.2																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(154-156)cGt>cTt		Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.							131	145	140					15																	22835924		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22835924G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.155G>T	15.37:g.22835924G>T	ENSP00000283645:p.Arg52Leu					TUBGCP5_uc001yur.4_Missense_Mutation_p.R52L	p.R52L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	1	285	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	52					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.155G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	18.84	3.709997	0.68730	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.31510	1.49;1.49	5.44	1.48	0.22813	.	0.309061	0.36519	N	0.002550	T	0.39200	0.1069	M	0.80183	2.485	0.58432	D	0.999992	P;P	0.52577	0.852;0.954	P;P	0.47102	0.537;0.537	T	0.40384	-0.9566	10	0.66056	D	0.02	-4.1468	9.5773	0.39465	0.2816:0.0:0.7184:0.0	.	52;52	Q96RT8;E9PB12	GCP5_HUMAN;.	L	52	ENSP00000283645:R52L;ENSP00000409217:R52L	ENSP00000283645:R52L	R	+	2	0	TUBGCP5	20387365	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.288000	0.51739	0.371000	0.24564	0.655000	0.94253	CGT		0.368	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		T	22835924	G	T	22835924	3	4	173	1	0	0	0	0	1	0	0	0	16766	1145	40	5	161	5	TUBGCP5	15	22835924	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		22835924	79695468	48	12309											
KCTD19	146212	broad.mit.edu	37	chr16	67331487	67331487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctcgtaggtgatgtcccTtttgtctaggaaggcacaga	8	12	13	8	1	1	2	0	1	1	1	3	3	2	3	1	4	0	3	1	4	3	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr16:67331487T>C	ENST00000304372.5	-	7	1121	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	KCTD19_ENST00000562860.1_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	356					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGATGTCCCTTTTGTCTAGG	0.517																																						uc002esu.2																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1066-1068)Agg>Ggg		Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.							114	114	114					16																	67331487		1913	4125	6038	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67331487T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1066A>G	16.37:g.67331487T>C	ENSP00000305702:p.Arg356Gly					KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	p.R356G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	1117	-		Ovarian(137;0.192)	356					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1066A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335147	0.24253	.	.	ENSG00000168676	ENST00000304372	T	0.58060	0.36	5.97	4.89	0.63831	.	0.072732	0.64402	D	0.000014	T	0.22205	0.0535	N	0.02011	-0.69	0.32528	N	0.535309	B	0.09022	0.002	B	0.08055	0.003	T	0.19484	-1.0304	10	0.22109	T	0.4	-24.3638	6.716	0.23304	0.0:0.1482:0.0:0.8518	.	356	Q17RG1	KCD19_HUMAN	G	356	ENSP00000305702:R356G	ENSP00000305702:R356G	R	-	1	2	KCTD19	65888988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.733000	0.38156	2.288000	0.76882	0.533000	0.62120	AGG		0.517	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		C	67331487	T	C	67331487	3	2	173	1	0	0	0	0	1	0	0	0	8106	1608	56	4	1754	4	KCTD19	16	67331487	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		67331487	23023266	49	12310											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	173	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		7577121	73618089	50	12311											
DNAH9	1770	broad.mit.edu	37	chr17	11696846	11696846	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctcctcagtggaatgTgtgaaatccacatgggatct	9	13	9	10	0	4	1	1	1	3	0	6	3	5	3	2	2	0	0	2	2	2	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:11696846T>C	ENST00000262442.4	+	42	8156	c.8088T>C	c.(8086-8088)tgT>tgC	p.C2696C	DNAH9_ENST00000454412.2_Silent_p.C2696C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2696					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTGGAATGTGTGAAATCCA	0.388																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8086-8088)tgT>tgC		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							153	141	145					17																	11696846		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696846T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8088T>C	17.37:g.11696846T>C						DNAH9_uc010coo.3_Silent_p.C1990C	p.C2696C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8156	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2696					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.8088T>C	CCDS11160.1																																																																																				0.388	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11696846	T	C	11696846	2	2	173	1	0	0	0	0	0	0	0	1	4608	1702	59	4		4	DNAH9	17	11696846	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	4119725	11696846	69498364	51	12312											
BPTF	2186	broad.mit.edu	37	chr17	65862640	65862640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattacagcacaaaggtccaActtgcagaattaattgactg	15	11	7	8	0	0	2	0	1	0	1	1	2	1	2	1	1	4	2	1	1	6	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:65862640A>G	ENST00000321892.4	+	3	1558	c.1497A>G	c.(1495-1497)caA>caG	p.Q499Q	BPTF_ENST00000306378.6_Silent_p.Q499Q|BPTF_ENST00000335221.5_Silent_p.Q499Q|BPTF_ENST00000424123.3_Silent_p.Q360Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	499					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAAGGTCCAACTTGCAGAAT	0.343																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1495-1497)caA>caG		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							85	96	92					17																	65862640		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862640A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1497A>G	17.37:g.65862640A>G						BPTF_uc002jge.3_Silent_p.Q499Q|BPTF_uc010wqm.1_Silent_p.Q499Q	p.Q499Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1558	+	all_cancers(12;6e-11)		499					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.1497A>G																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		G	65862640	A	G	65862640	2	3	173	1	0	0	0	0	0	0	0	1	1495	40	2	4		4	BPTF	17	65862640	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	54165794	65862640	15332570	52	12313											
MIB1	57534	broad.mit.edu	37	chr18	19321653	19321653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acggcggcgagggccatgtgGgcaccgtccggagcttcgag	6	5	18	12	6	0	0	0	0	0	0	2	3	1	1	3	5	1	2	3	5	0	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:19321653G>C	ENST00000261537.6	+	1	373	c.109G>C	c.(109-111)Ggc>Cgc	p.G37R	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	37	MIB/HERC2 1. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGGCCATGTGGGCACCGTCCG	0.677																																						uc002ktq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(109-111)Ggc>Cgc		Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.							25	24	24					18																	19321653		2193	4293	6486	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19321653G>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.109G>C	18.37:g.19321653G>C	ENSP00000261537:p.Gly37Arg					MIB1_uc002ktp.3_Intron	p.G37R	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		0	109	+			37			MIB/HERC2 1.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.109G>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550208	0.86127	.	.	ENSG00000101752	ENST00000261537	T	0.79247	-1.25	4.19	3.28	0.37604	Mib-herc2 (2);	0.119403	0.56097	D	0.000028	D	0.88644	0.6492	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89843	0.4004	10	0.87932	D	0	-5.9312	13.6593	0.62357	0.0:0.1566:0.8433:0.0	.	37	Q86YT6	MIB1_HUMAN	R	37	ENSP00000261537:G37R	ENSP00000261537:G37R	G	+	1	0	MIB1	17575651	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.474000	0.97718	0.695000	0.31675	0.313000	0.20887	GGC		0.677	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		C	19321653	G	C	19321653	3	2	173	1	0	0	0	0	1	0	0	0	9566	1232	43	5	111	5	MIB1	18	19321653	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		19321653	58755595	53	12314											
SOCS6	9306	broad.mit.edu	37	chr18	67992496	67992496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagagctcggcttctcatAatggagacctgcatcttcac	10	11	9	11	1	3	3	2	1	2	2	5	4	3	3	1	2	2	3	1	2	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:67992496A>G	ENST00000397942.3	+	2	908	c.592A>G	c.(592-594)Aat>Gat	p.N198D	SOCS6_ENST00000582322.1_Missense_Mutation_p.N198D	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	198					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCTTCTCATAATGGAGACCT	0.512																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(592-594)Aat>Gat		Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.							108	94	99					18																	67992496		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992496A>G	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.592A>G	18.37:g.67992496A>G	ENSP00000381034:p.Asn198Asp					SOCS6_uc010dqq.2_Missense_Mutation_p.N198D|SOCS6_uc021ulj.1_Missense_Mutation_p.N198D	p.N198D	NM_004232	NP_004223	O14544	SOCS6_HUMAN			1	908	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	198					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.592A>G	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.619214	0.28801	.	.	ENSG00000170677	ENST00000397942	T	0.25085	1.82	5.12	0.264	0.15607	.	0.487639	0.20210	N	0.096926	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18335	-1.0340	10	0.51188	T	0.08	-2.7492	8.3611	0.32359	0.6733:0.0:0.3267:0.0	.	198	O14544	SOCS6_HUMAN	D	198	ENSP00000381034:N198D	ENSP00000381034:N198D	N	+	1	0	SOCS6	66143476	0.075000	0.21258	0.000000	0.03702	0.102000	0.19082	1.557000	0.36299	0.023000	0.15187	0.459000	0.35465	AAT		0.512	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			G	67992496	A	G	67992496	3	3	173	1	0	0	0	0	1	0	0	0	14918	362	13	4	594	4	SOCS6	18	67992496	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	48670843	67992496	10084752	54	12315											
LMNB2	84823	broad.mit.edu	37	chr19	2444529	2444529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactcgtacagcgccttgaTgccactcacctggggagacc	8	7	11	15	3	1	2	1	1	0	1	2	4	1	2	4	2	3	1	4	2	1	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:2444529T>C	ENST00000582871.1	-	2	300	c.214A>G	c.(214-216)Atc>Gtc	p.I72V	LMNB2_ENST00000325327.3_Missense_Mutation_p.I92V	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	72	Linker 1.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCTTGATGCCACTCACC	0.642																																						uc002lvy.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(214-216)Atc>Gtc		Homo sapiens lamin B2 (LMNB2), mRNA.							81	68	72					19																	2444529		2203	4300	6503	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2444529T>C	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.214A>G	19.37:g.2444529T>C	ENSP00000462730:p.Ile72Val						p.I72V	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	301	-		Hepatocellular(1079;0.137)	72			Linker 1.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.214A>G		.	.	.	.	.	.	.	.	.	.	T	14.14	2.447176	0.43429	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.04	4.04	0.47022	Filament (1);	0.135395	0.49305	D	0.000149	T	0.53981	0.1830	L	0.39898	1.24	0.51482	D	0.999923	B	0.20052	0.041	B	0.31101	0.124	T	0.50145	-0.8862	9	0.29301	T	0.29	.	11.8181	0.52222	0.0:0.0:0.0:1.0	.	72	Q03252	LMNB2_HUMAN	V	72	.	ENSP00000327054:I72V	I	-	1	0	LMNB2	2395529	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.583000	0.36579	1.481000	0.48307	0.459000	0.35465	ATC		0.642	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		C	2444529	T	C	2444529	3	2	173	1	0	0	0	0	1	0	0	0	8850	1464	51	4	1632	4	LMNB2	19	2444529	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		2444529	56684454	55	12316											
PGLS	25796	broad.mit.edu	37	chr19	17626983	17626983	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctctgttggctgcagaCgcatcttctctccagactgc	5	12	9	15	1	3	2	0	0	3	2	6	2	5	2	2	1	2	4	2	1	0	2	rs143569199		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:17626983C>T	ENST00000252603.2	+	2	334	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	97					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						TGGCTGCAGACGCATCTTCTC	0.537																																						uc002ngw.3																			0				endometrium(1)|lung(1)	2						c.e2-1		Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.		C	MET/THR	0,4406		0,0,2203	110	78	89		290	3.8	1	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PGLS	NM_012088.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	97/259	17626983	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17626983C>T	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.289-1C>T	19.37:g.17626983C>T							p.T97_splice	NM_012088	NP_036220	O95336	6PGL_HUMAN			2	339	+			97						Missense_Mutation	SNP	ENST00000252603.2	37	c.289_splice	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569663	0.28003	0.0	1.16E-4	ENSG00000130313	ENST00000252603	T	0.44083	0.93	4.84	3.8	0.43715	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.293340	0.37761	N	0.001943	T	0.56819	0.2011	M	0.69358	2.11	0.31298	N	0.68861	D	0.71674	0.998	D	0.65773	0.938	T	0.62581	-0.6824	10	0.56958	D	0.05	-39.1078	9.3426	0.38089	0.0:0.8989:0.0:0.1011	.	97	O95336	6PGL_HUMAN	M	97	ENSP00000252603:T97M	ENSP00000252603:T97M	T	+	2	0	PGLS	17487983	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	2.301000	0.43628	1.026000	0.39733	-0.224000	0.12420	ACG		0.537	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		Missense_Mutation	T	17626983	C	T	17626983	5	4	173	1	0	0	0	0	0	0	1	0	11792	550	19	1	296	1	PGLS	19	17626983	Splice_Site	SNP	C	TCGA-26-1442-01A-01D-1696-08	15182454	17626983	41502000	56	12317											
ZNF233	353355	broad.mit.edu	37	chr19	44778066	44778066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacttcaagcccatcagaGaggtcactctagagacaaga	16	6	8	11	0	4	3	3	0	1	3	4	5	4	3	1	1	2	0	1	1	4	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:44778066G>A	ENST00000391958.2	+	5	1380	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	ZNF233_ENST00000334152.1_Missense_Mutation_p.R400K|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGGTCACTCT	0.418																																						uc021uvi.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1252-1254)aGa>aAa		Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.							85	87	86					19																	44778066		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778066G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1253G>A	19.37:g.44778066G>A	ENSP00000375820:p.Arg418Lys					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.R233K|ZNF233_uc002oyz.2_Missense_Mutation_p.R418K	p.R418K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN			4	1359	+		Prostate(69;0.0435)|all_neural(266;0.226)	418					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1253G>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009924	0.35415	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.16897	2.31;2.31	4.28	-0.851	0.10716	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.38112	-0.9676	9	0.23891	T	0.37	-1.5948	5.8178	0.18506	0.08:0.3852:0.4137:0.1211	.	418	A6NK53	ZN233_HUMAN	K	400;418;339	ENSP00000334957:R400K;ENSP00000375820:R418K	ENSP00000280305:R339K	R	+	2	0	ZNF233	49469906	0.000000	0.05858	0.006000	0.13384	0.299000	0.27559	-0.087000	0.11215	0.022000	0.15160	-0.243000	0.11985	AGA		0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		A	44778066	G	A	44778066	3	1	173	1	0	0	0	0	1	0	0	0	17783	942	33	3	1267	3	ZNF233	19	44778066	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	27151083	44778066	14350917	57	12318											
PEG3	5178	broad.mit.edu	37	chr19	57328400	57328400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctagtatgcatgatctgGtgctcaacaaattctgagat	11	14	8	8	0	4	2	1	2	3	1	5	3	4	2	0	1	3	3	0	1	4	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:57328400G>A	ENST00000326441.9	-	10	1773	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.H470H|PEG3_ENST00000593695.1_Silent_p.H344H|PEG3_ENST00000598410.1_Silent_p.H346H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	470					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCATGATCTGGTGCTCAACAA	0.458																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1408-1410)caC>caT		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							202	173	183					19																	57328400		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328400G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1410C>T	19.37:g.57328400G>A						PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.H441H|PEG3_uc002qnv.2_Silent_p.H470H|PEG3_uc002qnw.2_Silent_p.H346H|PEG3_uc002qnx.2_Silent_p.H344H|PEG3_uc010etr.2_Silent_p.H470H	p.H470H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	1761	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	470					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1410C>T	CCDS12948.1																																																																																				0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57328400	G	A	57328400	2	1	173	1	0	0	0	0	0	0	0	1	11720	1252	44	3		3	PEG3	19	57328400	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	12550334	57328400	1800583	58	12319											
ACOT8	10005	broad.mit.edu	37	chr20	44477248	44477248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcacggccttcacagagCgcaccgagaagctcgaccct	9	6	11	15	4	1	2	1	0	0	2	2	4	1	2	3	1	3	4	3	1	1	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr20:44477248C>T	ENST00000217455.4	-	3	419	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	110					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTTCACAGAGCGCACCGAGAA	0.627																																						uc002xqa.2																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(328-330)cGc>cAc		Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.							134	119	124					20																	44477248		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44477248C>T	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.329G>A	20.37:g.44477248C>T	ENSP00000217455:p.Arg110His					ACOT8_uc010zxe.2_Missense_Mutation_p.R110H|ACOT8_uc002xqc.2_Missense_Mutation_p.R57H|ACOT8_uc010zxf.2_Intron	p.R110H	NM_005469	NP_005460	O14734	ACOT8_HUMAN			2	423	-		Myeloproliferative disorder(115;0.0122)	110					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.329G>A	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.13|19.13	3.767685|3.767685	0.69878|0.69878	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000487205|ENST00000217455	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91280|0.91280	0.7251|0.7251	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94377|0.94377	0.7601|0.7601	6|9	0.72032|0.87932	D|D	0.01|0	.|.	19.3333|19.3333	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|110;57;110	.|B4DLF4;A8K8X9;O14734	.|.;.;ACOT8_HUMAN	T|H	65|110	.|.	ENSP00000433923:A131T|ENSP00000217455:R110H	A|R	-|-	1|2	0|0	ACOT8|ACOT8	43910655|43910655	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.985000|0.985000	0.73830|0.73830	7.126000|7.126000	0.77201|0.77201	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.627	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		T	44477248	C	T	44477248	3	4	173	1	0	0	0	0	1	0	0	0	156	768	27	1	646	1	ACOT8	20	44477248	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		44477248	18548272	59	12320											
KDM5C	8242	broad.mit.edu	37	chrX	53223866	53223866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggccgaattggtgcgacGcagctgcaggataccctcct	7	9	12	13	3	0	0	0	0	0	0	1	3	1	1	3	3	4	3	3	3	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chrX:53223866G>A	ENST00000375401.3	-	23	4025	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	KDM5C_ENST00000404049.3_Missense_Mutation_p.R1164C|KDM5C_ENST00000375383.3_Missense_Mutation_p.R1124C|KDM5C_ENST00000452825.3_Missense_Mutation_p.R1098C|KDM5C_ENST00000375379.3_Missense_Mutation_p.R1165C	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1165					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGGTGCGACGCAGCTGCAGG	0.612			"N, F, S"		clear cell renal carcinoma																																	uc004drz.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(3493-3495)Cgt>Tgt		Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.							240	172	195					X																	53223866		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53223866G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3493C>T	X.37:g.53223866G>A	ENSP00000364550:p.Arg1165Cys					KDM5C_uc022bxe.1_Missense_Mutation_p.R1098C|KDM5C_uc004dsa.3_Missense_Mutation_p.R1164C|AY927613_uc004dsb.1_Non-coding_Transcript	p.R1165C	NM_004187	NP_004178	P41229	KDM5C_HUMAN			22	4026	-			1165					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.3493C>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	17.60	3.430733	0.62844	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.88664	-2.41;-2.13;-2.13;-2.13;-2.28	4.61	4.61	0.57282	.	0.058078	0.64402	D	0.000001	D	0.94499	0.8229	M	0.85777	2.775	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.983;0.983	D	0.95319	0.8419	10	0.87932	D	0	-12.1671	14.082	0.64929	0.0:0.0:1.0:0.0	.	1098;1164;1165	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	C	1098;1165;1164;1165;1124	ENSP00000445176:R1098C;ENSP00000364550:R1165C;ENSP00000385394:R1164C;ENSP00000364528:R1165C;ENSP00000364532:R1124C	ENSP00000364528:R1165C	R	-	1	0	KDM5C	53240591	0.986000	0.35501	0.998000	0.56505	0.982000	0.71751	2.041000	0.41213	1.893000	0.54813	0.525000	0.51046	CGT		0.612	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53223866	G	A	53223866	3	1	173	1	0	0	0	0	1	0	0	0	8135	1087	38	1	1303	1	KDM5C	23	53223866	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		53223866	102046694	60	12321											
DNAJC16	23341	broad.mit.edu	37	chr1	15873341	15873341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttctgtttgaccaaaCgcccattgtgccactgttat	7	15	7	12	1	1	1	0	1	1	0	2	1	2	1	4	0	2	2	4	0	2	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:15873341C>T	ENST00000375847.3	+	6	1003	c.839C>T	c.(838-840)aCg>aTg	p.T280M	DNAJC16_ENST00000375849.1_Missense_Mutation_p.T280M|DNAJC16_ENST00000375838.1_Missense_Mutation_p.T280M	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	280					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTGACCAAACGCCCATTGTG	0.328																																						uc001aws.3																			0		p.T280T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(838-840)aCg>aTg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.							104	101	102					1																	15873341		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15873341C>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.839C>T	1.37:g.15873341C>T	ENSP00000365007:p.Thr280Met					DNAJC16_uc001awr.1_Missense_Mutation_p.T280M|DNAJC16_uc001awt.3_5'UTR	p.T280M	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	5	959	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	280					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.839C>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429146	0.25726	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.70986	-0.53;-0.52;-0.53	6.17	0.984	0.19773	.	0.479484	0.26627	N	0.023322	T	0.35422	0.0931	N	0.01267	-0.92	0.21416	N	0.999692	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26087	-1.0113	10	0.31617	T	0.26	-0.5326	5.9557	0.19271	0.0:0.2215:0.1482:0.6303	.	280;280	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	M	280	ENSP00000365007:T280M;ENSP00000364998:T280M;ENSP00000365009:T280M	ENSP00000364998:T280M	T	+	2	0	DNAJC16	15745928	1.000000	0.71417	0.007000	0.13788	0.018000	0.09664	2.385000	0.44371	-0.033000	0.13736	-1.202000	0.01658	ACG		0.328	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		T	15873341	C	T	15873341	3	4	174	1	0	0	0	0	1	0	0	0	4635	536	19	1	857	1	DNAJC16	1	15873341	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		15873341	233377280	1	12322											
MACF1	23499	broad.mit.edu	37	chr1	39907987	39907987	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagaaaattgcccacCgacaggtaaggcaggtggta	12	7	15	7	1	0	1	0	1	0	1	0	3	0	1	2	5	1	3	2	5	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:39907987C>T	ENST00000372915.3	+	75	18727	c.18640C>T	c.(18640-18642)Cga>Tga	p.R6214*	MACF1_ENST00000317713.7_Nonsense_Mutation_p.R4256*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.R4758*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.R6315*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.R4256*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.R4126*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.R4256*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.R6352*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6214					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTGCCCACCGACAGGTAAG	0.443																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14272-14274)Cga>Tga		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							46	47	47					1																	39907987		2203	4300	6503	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907987C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18640C>T	1.37:g.39907987C>T	ENSP00000362006:p.Arg6214*					MACF1_uc021ols.1_Nonsense_Mutation_p.R4253*|MACF1_uc021olt.1_Nonsense_Mutation_p.R4256*	p.R4758*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		40	14272	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6323					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.14272C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.202023|16.202023	0.99857|0.99857	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	6.03|6.03	3.64|3.64	0.41730|0.41730	.|.	.|0.089556	.|0.48767	.|D	.|0.000176	T|.	0.39784|.	0.1091|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23691|.	-1.0181|.	4|.	.|0.02654	.|T	.|1	.|.	13.5204|13.5204	0.61563|0.61563	0.616:0.384:0.0:0.0|0.616:0.384:0.0:0.0	.|.	.|.	.|.	.|.	L|X	3259|4256;6214;4256;4256;4126;4758	.|.	.|ENSP00000289893:R4758X	P|R	+|+	2|1	0|2	MACF1|MACF1	39680574|39680574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	2.920000|2.920000	0.48844|0.48844	1.110000|1.110000	0.41699|0.41699	-0.262000|-0.262000	0.10625|0.10625	CCG|CGA		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39907987	C	T	39907987	4	4	174	1	0	0	0	0	0	1	0	0	9144	644	23	2	19203	2	MACF1	1	39907987	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	24034646	39907987	209342634	2	12323											
KCNQ4	9132	broad.mit.edu	37	chr1	41284177	41284177	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcccccgcccctgcagActtcatcgtgttcgtggcct	3	9	10	19	5	1	1	1	0	0	1	3	1	1	1	6	1	1	2	6	1	0	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:41284177A>G	ENST00000347132.5	+	4	615	c.533A>G	c.(532-534)gAc>gGc	p.D178G	KCNQ4_ENST00000509682.2_Splice_Site_p.D178G	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	178					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCCCCTGCAGACTTCATCGTG	0.701																																						uc001cgh.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.e4-1		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.							24	25	24					1																	41284177		2193	4274	6467	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284177A>G	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.533-1A>G	1.37:g.41284177A>G						KCNQ4_uc001cgi.2_Splice_Site_p.D178_splice	p.D178_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	615	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	178					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.533_splice	CCDS456.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945578	0.92593	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99388	-5.81;-5.81	5.04	5.04	0.67666	Ion transport (1);	0.054274	0.64402	D	0.000001	D	0.99417	0.9794	M	0.93594	3.435	0.80722	D	1	P;D	0.61080	0.924;0.989	P;P	0.59703	0.838;0.862	D	0.98570	1.0645	9	.	.	.	.	12.7811	0.57476	1.0:0.0:0.0:0.0	.	178;178	P56696-2;P56696	.;KCNQ4_HUMAN	G	178	ENSP00000262916:D178G;ENSP00000423756:D178G	.	D	+	2	0	KCNQ4	41056764	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.058000	0.93896	2.114000	0.64651	0.528000	0.53228	GAC		0.701	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	Missense_Mutation	G	41284177	A	G	41284177	5	3	174	1	0	0	0	0	0	0	1	0	8085	289	10	4	547	4	KCNQ4	1	41284177	Splice_Site	SNP	A	TCGA-26-5132-01A-01D-1486-08	1376190	41284177	207966444	3	12324											
MYSM1	114803	broad.mit.edu	37	chr1	59141202	59141202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctactgcatcttttctgtCtctgattcgtactttgtcaa	6	20	5	10	1	5	1	1	1	4	0	7	1	5	1	0	0	3	2	0	0	3	7			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:59141202C>T	ENST00000472487.1	-	10	1480	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	481					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCTTTTCTGTCTCTGATTCGT	0.408																																						uc009wab.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1441-1443)Gac>Aac		Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.							240	228	232					1																	59141202		1981	4163	6144	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59141202C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1441G>A	1.37:g.59141202C>T	ENSP00000418734:p.Asp481Asn					MYSM1_uc001czc.3_Non-coding_Transcript	p.D481N	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			9	1464	-	all_cancers(7;9.36e-06)		481					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1441G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323153	0.60634	.	.	ENSG00000162601	ENST00000472487	T	0.22134	1.97	5.35	5.35	0.76521	.	0.045535	0.85682	D	0.000000	T	0.21186	0.0510	L	0.36672	1.1	0.45452	D	0.998421	B	0.10296	0.003	B	0.06405	0.002	T	0.02244	-1.1189	10	0.62326	D	0.03	-16.0959	18.2298	0.89931	0.0:1.0:0.0:0.0	.	481	Q5VVJ2	MYSM1_HUMAN	N	481	ENSP00000418734:D481N	ENSP00000418734:D481N	D	-	1	0	MYSM1	58913790	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.435000	0.66532	2.785000	0.95823	0.655000	0.94253	GAC		0.408	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		T	59141202	C	T	59141202	3	4	174	1	0	0	0	0	1	0	0	0	10101	913	32	3	1089	3	MYSM1	1	59141202	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	17857025	59141202	190109419	4	12325											
GJA5	2702	broad.mit.edu	37	chr1	147230552	147230552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcactgattaaagtcGgggggtggtgtgcagctctg	7	10	16	8	1	1	1	0	1	1	0	3	1	2	1	1	5	2	3	1	5	2	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:147230552G>A	ENST00000271348.2	-	2	956	c.795C>T	c.(793-795)ccC>ccT	p.P265P	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.P265P	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	265					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.P265P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GATTAAAGTCGGGGGGTGGTG	0.532																																						uc021ovl.1																			1	Substitution - coding silent(1)	p.P265P(2)	lung(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(793-795)ccC>ccT		Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.							72	79	77					1																	147230552		2203	4300	6503	SO:0001819	synonymous_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230552G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.795C>T	1.37:g.147230552G>A						GJA5_uc001eps.1_Silent_p.P265P|GJA5_uc001ept.1_Silent_p.P265P	p.P265P	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		0	795	-	all_hematologic(923;0.0276)		265					Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	37	c.795C>T	CCDS929.1																																																																																				0.532	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		A	147230552	G	A	147230552	2	1	174	1	0	0	0	0	0	0	0	1	6404	1103	39	2		2	GJA5	1	147230552	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	88089350	147230552	102020069	5	12326											
PRPF3	9129	broad.mit.edu	37	chr1	150318611	150318611	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacgtggtagtagtggaaggGggtgagtctgaaaaacttga	13	9	16	3	1	1	3	0	3	1	0	1	4	1	4	0	4	2	2	0	4	6	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:150318611G>A	ENST00000324862.6	+	13	1923	c.1758G>A	c.(1756-1758)ggG>ggA	p.G586G	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Splice_Site_p.G537G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	586					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGTGGAAGGGGGTGAGTCTG	0.488																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e13+1		Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.							177	184	182					1																	150318611		2203	4300	6503	SO:0001630	splice_region_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150318611G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1759+1G>A	1.37:g.150318611G>A						PRPF3_uc009wlp.2_Splice_Site|PRPF3_uc010pca.2_Splice_Site_p.G546_splice|PRPF3_uc010pcb.2_Splice_Site_p.G538_splice|PRPF3_uc009wlq.1_Splice_Site	p.G587_splice	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	13	1921	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		587					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.1759_splice	CCDS951.1																																																																																				0.488	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698	Silent	A	150318611	G	A	150318611	5	1	174	1	0	0	0	0	0	0	1	0	12565	1246	43	3	1804	3	PRPF3	1	150318611	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	3088059	150318611	98932010	6	12327											
FAM5C	339479	broad.mit.edu	37	chr1	190234152	190234152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgtttgctcaacttcCgcttgtccacaaaaattgtg	9	13	7	12	2	1	0	1	0	0	0	4	0	3	0	2	0	3	4	2	0	3	4	rs369089898		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:190234152C>T	ENST00000367462.3	-	4	692	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	BRINP3_ENST00000534846.1_Missense_Mutation_p.R52Q|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	154	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GCTCAACTTCCGCTTGTCCAC	0.388																																						uc001gse.1																			0		p.K153Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(460-462)cGg>cAg		Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.		C	GLN/ARG	0,4406		0,0,2203	101	84	90		461	5.8	1	1		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM5C	NM_199051.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	154/767	190234152	1,13005	2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190234152C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.461G>A	1.37:g.190234152C>T	ENSP00000356432:p.Arg154Gln					FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	p.R154Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	693	-	Prostate(682;0.198)		154					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.461G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046608	0.93740	0.0	1.16E-4	ENSG00000162670	ENST00000367462;ENST00000534846	D;T	0.84070	-1.8;2.19	5.75	5.75	0.90469	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	L	0.38531	1.155	0.53005	D	0.999968	D;D	0.71674	0.998;0.998	D;D	0.76575	0.979;0.988	D	0.85921	0.1446	10	0.39692	T	0.17	.	17.4435	0.87572	0.0:1.0:0.0:0.0	.	52;154	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	154;52	ENSP00000356432:R154Q;ENSP00000438022:R52Q	ENSP00000356432:R154Q	R	-	2	0	FAM5C	188500775	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.556000	0.67307	2.721000	0.93114	0.585000	0.79938	CGG		0.388	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190234152	C	T	190234152	3	4	174	1	0	0	0	0	1	0	0	0	5594	652	23	2	1859	2	FAM5C	1	190234152	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	39915541	190234152	59016469	7	12328											
LYST	1130	broad.mit.edu	37	chr1	235922440	235922440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaatagtgctgtggcttCgctggaaggaggccaatccc	8	10	13	10	1	0	0	0	0	0	0	2	2	1	2	2	4	2	4	2	4	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:235922440C>T	ENST00000389794.3	-	23	6887	c.6713G>A	c.(6712-6714)cGa>cAa	p.R2238Q	LYST_ENST00000389793.2_Missense_Mutation_p.R2238Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2238					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTGGCTTCGCTGGAAGGA	0.527																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6712-6714)cGa>cAa		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							85	83	84					1																	235922440		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922440C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6713G>A	1.37:g.235922440C>T	ENSP00000374444:p.Arg2238Gln					LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	p.R2238Q	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		22	6888	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2238					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6713G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274445	0.59649	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66638	-0.22;-0.22	4.93	0.343	0.16001	.	0.487642	0.23676	N	0.045678	T	0.59390	0.2190	M	0.63428	1.95	0.80722	D	1	B	0.14805	0.011	B	0.12156	0.007	T	0.53322	-0.8455	10	0.54805	T	0.06	.	9.5082	0.39060	0.0:0.4905:0.0:0.5095	.	2238	Q99698	LYST_HUMAN	Q	2238	ENSP00000374444:R2238Q;ENSP00000374443:R2238Q	ENSP00000374443:R2238Q	R	-	2	0	LYST	233989063	0.873000	0.30073	0.843000	0.33291	0.991000	0.79684	0.550000	0.23345	-0.121000	0.11787	0.558000	0.71614	CGA		0.527	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235922440	C	T	235922440	3	4	174	1	0	0	0	0	1	0	0	0	9128	884	31	2	4816	2	LYST	1	235922440	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	45688288	235922440	13328181	8	12329											
FBXO41	150726	broad.mit.edu	37	chr2	73493658	73493658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctggcgctgggcGtgctgccacagctgctgctg	3	7	17	14	2	0	0	0	0	0	0	0	0	0	0	2	4	5	6	2	4	0	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:73493658G>A	ENST00000521871.1	-	3	1473	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	FBXO41_ENST00000520530.2_Missense_Mutation_p.T353M|FBXO41_ENST00000295133.5_Missense_Mutation_p.T414M			Q8TF61	FBX41_HUMAN	F-box protein 41	353										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGCTGGGCGTGCTGCCACA	0.692																																						uc021vjh.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1057-1059)aCg>aTg		Homo sapiens F-box protein 41 (FBXO41), mRNA.							9	12	11					2																	73493658		1931	4031	5962	SO:0001583	missense	150726					intracellular	protein binding|zinc ion binding	g.chr2:73493658G>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1058C>T	2.37:g.73493658G>A	ENSP00000428646:p.Thr353Met						p.T353M	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			1	1148	-			353					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.1058C>T	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764828	0.90020	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	.	.	.	5.24	5.24	0.73138	.	0.102711	0.64402	D	0.000003	T	0.75170	0.3813	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77324	-0.2630	9	0.72032	D	0.01	.	17.3622	0.87354	0.0:0.0:1.0:0.0	.	353	Q8TF61	FBX41_HUMAN	M	414;353;414	.	ENSP00000295133:T414M	T	-	2	0	FBXO41	73347166	1.000000	0.71417	0.954000	0.39281	0.962000	0.63368	9.027000	0.93706	2.439000	0.82584	0.453000	0.30009	ACG		0.692	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			A	73493658	G	A	73493658	3	1	174	1	0	0	0	0	1	0	0	0	5750	1145	40	1	1613	1	FBXO41	2	73493658	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		73493658	169705715	9	12330											
SCN7A	6332	broad.mit.edu	37	chr2	167328840	167328840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcactcaaacacagttaCgctgaaatcgagccagttcc	13	9	6	13	2	2	1	2	1	0	0	4	2	3	1	2	0	4	3	2	0	4	3	rs557709889	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:167328840C>T	ENST00000409855.1	-	5	685	c.559G>A	c.(559-561)Gta>Ata	p.V187I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	187					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V187I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AACACAGTTACGCTGAAATCG	0.338													C|||	2	0.000399361	0	0	5008	,	,		16604	0		0	False		,,,				2504	0.002					uc002udu.2																			2	Substitution - Missense(2)	p.V187I(3)	endometrium(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(559-561)Gta>Ata		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							44	43	43					2																	167328840		1884	4143	6027	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328840C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.559G>A	2.37:g.167328840C>T	ENSP00000386796:p.Val187Ile					SCN7A_uc010fpm.2_Non-coding_Transcript	p.V187I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			4	689	-			187						Missense_Mutation	SNP	ENST00000409855.1	37	c.559G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040349	0.55003	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98567	-5.0;-5.0;-5.0	5.37	1.54	0.23209	Ion transport (1);	0.382752	0.21813	N	0.068736	D	0.95449	0.8522	L	0.53780	1.695	0.30392	N	0.780945	P	0.41784	0.762	B	0.36464	0.225	D	0.91620	0.5310	10	0.28530	T	0.3	.	10.2854	0.43564	0.0:0.7071:0.0:0.2929	.	187	Q01118	SCN7A_HUMAN	I	187	ENSP00000386796:V187I;ENSP00000413699:V187I;ENSP00000403846:V187I	ENSP00000259060:V187I	V	-	1	0	SCN7A	167037086	0.863000	0.29885	0.942000	0.38095	0.559000	0.35586	1.372000	0.34261	0.349000	0.23975	-0.783000	0.03347	GTA		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167328840	C	T	167328840	3	4	174	1	0	0	0	0	1	0	0	0	13923	536	19	1	4573	1	SCN7A	2	167328840	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	93835182	167328840	75870533	10	12331											
DCLK3	85443	broad.mit.edu	37	chr3	36779849	36779850	+	Frame_Shift_Ins	INS	-	-	C																															cttgctactgggttctggctINScccatttccccctcccccac																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:36779849_36779850insC	ENST00000416516.2	-	2	791_792	c.301_302insG	c.(301-303)gagfs	p.E101fs		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E101*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTTCTGGCTCCCATTTCCCC	0.589																																						uc003cgi.2																			1	Substitution - Nonsense(1)	p.E101*(2)	lung(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(301-303)gagfs		Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.																																				SO:0001589	frameshift_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779849_36779850insC	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.302dupG	3.37:g.36779852_36779852dupC	ENSP00000394484:p.Glu101fs						p.E101fs	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			1	792_793	-			101						Frame_Shift_Ins	INS	ENST00000416516.2	37	c.301_302insG	CCDS43064.1																																																																																				0.589	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		C	36779850	-	C	36779849	7	5	174	1	0	1	1	0	0	0	0	0	4293	1551	54	0	1660	0	DCLK3	3	36779849	Frame_Shift_Ins	INS	-	TCGA-26-5132-01A-01D-1486-08		36779849	161242581	11	12332											
SLCO2A1	6578	broad.mit.edu	37	chr3	133653573	133653573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcagatgaggcctgccGccttctgcacgttgtactcc	5	10	13	13	2	2	2	1	1	1	1	3	2	3	2	4	3	3	3	4	3	1	3	rs142805553	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:133653573G>A	ENST00000310926.4	-	14	2189	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A563V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	639					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GAGGCCTGCCGCCTTCTGCAC	0.567																																						uc003eqa.4																			0		p.A639A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1915-1917)gCg>gTg		Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	123	105	111		1916	4.6	0.7	3	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLCO2A1	NM_005630.2	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	639/644	133653573	3,13003	2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133653573G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1916C>T	3.37:g.133653573G>A	ENSP00000311291:p.Ala639Val						p.A639V	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			13	2190	-			639					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1916C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231875	0.39399	2.27E-4	2.33E-4	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.54479	1.08;0.57	5.51	4.63	0.57726	.	1.564600	0.06327	U	0.705519	T	0.35595	0.0937	N	0.14661	0.345	0.35880	D	0.828915	P;P	0.45428	0.614;0.858	B;B	0.32583	0.057;0.148	T	0.25606	-1.0127	10	0.39692	T	0.17	.	13.2497	0.60045	0.0:0.0:0.7112:0.2888	.	563;639	E7EU40;Q92959	.;SO2A1_HUMAN	V	639;563	ENSP00000311291:A639V;ENSP00000418893:A563V	ENSP00000311291:A639V	A	-	2	0	SLCO2A1	135136263	1.000000	0.71417	0.746000	0.31095	0.225000	0.24961	2.447000	0.44917	1.328000	0.45358	-0.268000	0.10319	GCG		0.567	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		A	133653573	G	A	133653573	3	1	174	1	0	0	0	0	1	0	0	0	14726	1087	38	1	19	1	SLCO2A1	3	133653573	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08	96873724	133653573	64368857	12	12333											
DNAJC19	131118	broad.mit.edu	37	chr3	180705861	180705861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaggctccatatgctTcatggcttgcaaaacgtaac	11	12	8	10	1	1	1	1	1	0	0	2	1	2	1	1	2	5	5	1	2	5	6			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:180705861T>C	ENST00000382564.2	-	3	249	c.79A>G	c.(79-81)Aag>Gag	p.K27E	DNAJC19_ENST00000491873.1_Missense_Mutation_p.K2E|DNAJC19_ENST00000486355.1_Missense_Mutation_p.K27E|DNAJC19_ENST00000479269.1_Missense_Mutation_p.K2E	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	27					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TCCATATGCTTCATGGCTTGC	0.388																																						uc003fkt.3																			0				large_intestine(2)|lung(1)	3						c.(79-81)Aag>Gag		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							94	91	92					3																	180705861		2203	4300	6503	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180705861T>C		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.79A>G	3.37:g.180705861T>C	ENSP00000372005:p.Lys27Glu					DNAJC19_uc021xhv.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhw.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	p.K27E	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		2	251	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		27					B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.79A>G	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644177	0.87859	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	.	.	.	5.62	5.62	0.85841	.	0.041718	0.85682	D	0.000000	T	0.60663	0.2286	L	0.61387	1.9	0.58432	D	0.999999	D	0.58268	0.982	P	0.48815	0.591	T	0.59506	-0.7442	9	0.26408	T	0.33	-7.3075	13.348	0.60584	0.0:0.0:0.0:1.0	.	27	Q96DA6	TIM14_HUMAN	E	27;2;2	.	ENSP00000372005:K27E	K	-	1	0	DNAJC19	182188555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.283000	0.72646	2.140000	0.66376	0.459000	0.35465	AAG		0.388	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		C	180705861	T	C	180705861	3	2	174	1	0	0	0	0	1	0	0	0	4638	1792	62	4	287	4	DNAJC19	3	180705861	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	47052288	180705861	17316569	13	12334											
LGI2	55203	broad.mit.edu	37	chr4	25014080	25014080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagttgaacgtatccaCtgaaaccgactggtagggta	11	10	12	8	2	0	2	0	2	0	0	1	4	1	3	2	3	2	4	2	3	5	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:25014080C>T	ENST00000382114.4	-	7	882	c.697G>A	c.(697-699)Gtg>Atg	p.V233M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	233						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AACGTATCCACTGAAACCGAC	0.453																																						uc003grf.2																			0		p.V233V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(697-699)Gtg>Atg		Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.							120	107	111					4																	25014080		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25014080C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.697G>A	4.37:g.25014080C>T	ENSP00000371548:p.Val233Met						p.V233M	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			6	796	-		Breast(46;0.173)	233					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.697G>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407289	0.83230	.	.	ENSG00000153012	ENST00000382114	D	0.83673	-1.75	4.81	4.81	0.61882	.	0.060817	0.64402	D	0.000005	D	0.89849	0.6834	M	0.61703	1.905	0.58432	D	0.99999	D	0.76494	0.999	D	0.74348	0.983	D	0.90942	0.4798	10	0.72032	D	0.01	-23.9359	18.2456	0.89984	0.0:1.0:0.0:0.0	.	233	Q8N0V4	LGI2_HUMAN	M	233	ENSP00000371548:V233M	ENSP00000371548:V233M	V	-	1	0	LGI2	24623178	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	5.858000	0.69532	2.373000	0.80994	0.555000	0.69702	GTG		0.453	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			T	25014080	C	T	25014080	3	4	174	1	0	0	0	0	1	0	0	0	8752	565	20	3	948	3	LGI2	4	25014080	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		25014080	166140196	14	12335											
DCHS2	54798	broad.mit.edu	37	chr4	155219629	155219629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccactgttcccacttcaGcatcttctctcacagaggac	10	10	6	15	0	4	1	2	0	2	1	6	3	5	2	2	1	2	2	2	1	1	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:155219629G>T	ENST00000357232.4	-	18	4471	c.4472C>A	c.(4471-4473)gCt>gAt	p.A1491D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1491	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCACTTCAGCATCTTCTCT	0.463																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4471-4473)gCt>gAt		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							144	146	146					4																	155219629		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219629G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4472C>A	4.37:g.155219629G>T	ENSP00000349768:p.Ala1491Asp						p.A1491D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	17	4472	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1491			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4472C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342313	0.41498	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.76	2.64	0.31445	Cadherin (3);Cadherin-like (1);	0.589951	0.15920	N	0.238180	T	0.62441	0.2428	M	0.85041	2.73	0.31738	N	0.63616	P	0.50369	0.934	P	0.52758	0.708	T	0.65417	-0.6173	10	0.40728	T	0.16	.	5.418	0.16384	0.5068:0.0:0.4932:0.0	.	1491	Q6V1P9	PCD23_HUMAN	D	1491	ENSP00000349768:A1491D	ENSP00000349768:A1491D	A	-	2	0	DCHS2	155439079	0.852000	0.29690	0.184000	0.23157	0.985000	0.73830	2.590000	0.46154	0.902000	0.36520	0.650000	0.86243	GCT		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155219629	G	T	155219629	3	4	174	1	0	0	0	0	1	0	0	0	4288	971	34	5	4310	5	DCHS2	4	155219629	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08	130205549	155219629	35934647	15	12336											
SLC6A19	340024	broad.mit.edu	37	chr5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacctggctggacgcgggcGcacaggtcttcttctccttc	5	10	11	15	3	3	0	0	0	3	0	5	1	3	1	2	4	0	2	2	4	0	3	rs373991930		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1214110G>A	ENST00000304460.10	+	6	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	273					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647																																						uc003jbw.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(817-819)Gca>Aca		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92	90	91		817	3.2	0.2	5		91	0,8600		0,0,4300	no	missense	SLC6A19	NM_001003841.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	273/635	1214110	1,13005	2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1214110G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.817G>A	5.37:g.1214110G>A	ENSP00000305302:p.Ala273Thr						p.A273T	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	873	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		273					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.817G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	3.003	-0.205525	0.06180	2.27E-4	0.0	ENSG00000174358	ENST00000304460	T	0.73047	-0.71	4.96	3.18	0.36537	.	0.268254	0.42294	N	0.000722	T	0.38374	0.1038	N	0.02379	-0.575	0.54753	D	0.999985	B	0.12013	0.005	B	0.16289	0.015	T	0.36261	-0.9755	10	0.02654	T	1	.	10.1766	0.42941	0.1631:0.0:0.8369:0.0	.	273	Q695T7	S6A19_HUMAN	T	273	ENSP00000305302:A273T	ENSP00000305302:A273T	A	+	1	0	SLC6A19	1267110	1.000000	0.71417	0.206000	0.23566	0.524000	0.34500	3.714000	0.54889	0.509000	0.28195	0.491000	0.48974	GCA		0.647	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		A	1214110	G	A	1214110	3	1	174	1	0	0	0	0	1	0	0	0	14682	1087	38	1	839	1	SLC6A19	5	1214110	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		1214110	179701150	16	12337											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576573	33576573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtactttccactggagcGtcatttccaggtactctgat	7	15	8	11	1	3	1	1	1	2	0	5	2	5	2	2	2	3	2	2	2	2	4	rs181608167		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:33576573G>A	ENST00000504830.1	-	19	3893	c.3558C>T	c.(3556-3558)gaC>gaT	p.D1186D	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.D1101D	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1186	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACTGGAGCGTCATTTCCAG	0.498										HNSCC(64;0.19)			G|||	1	0.000199681	0	0	5008	,	,		21105	0.001		0	False		,,,				2504	0					uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3556-3558)gaC>gaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							205	186	193					5																	33576573		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576573G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3558C>T	5.37:g.33576573G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.D1101D	p.D1186D	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	3721	-			1186			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3558C>T	CCDS34140.1																																																																																				0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33576573	G	A	33576573	2	1	174	1	0	0	0	0	0	0	0	1	257	1136	40	1		1	ADAMTS12	5	33576573	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	32362463	33576573	147338687	17	12338											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247188	26247188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaggccttttccggcCttgccccgaacagacatgat	8	10	8	15	2	0	2	0	1	0	1	2	3	2	2	6	2	2	0	6	2	2	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:26247188C>T	ENST00000244537.4	-	1	71	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	6						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTTCCGGCCTTGCCCCGAA	0.483																																						uc003nhf.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(16-18)aaG>aaA		Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.							41	39	40					6																	26247188		2203	4300	6503	SO:0001819	synonymous_variant	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247188C>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.18G>A	6.37:g.26247188C>T							p.K6K	NM_003547	NP_003538	Q99525	H4G_HUMAN			0	18	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	6						Silent	SNP	ENST00000244537.4	37	c.18G>A	CCDS4599.1																																																																																				0.483	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		T	26247188	C	T	26247188	2	4	174	1	0	0	0	0	0	0	0	1	7171	680	24	3		3	HIST1H4G	6	26247188	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08		26247188	144867879	18	12339											
ZFP57	4340	broad.mit.edu	37	chr6	29641134	29641134	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggtaacccagatggaCgcggcggtgacgacttagtc	8	6	16	11	5	0	2	0	1	0	1	1	4	0	3	2	5	1	1	2	5	2	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:29641134C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.V232I|ZFP57_ENST00000376881.3_Missense_Mutation_p.V232I|ZFP57_ENST00000488757.1_Missense_Mutation_p.V252I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCAGATGGACGCGGCGGTGA	0.557																																						uc011dlw.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(754-756)Gtc>Atc		Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.							82	91	88					6																	29641134		1350	2604	3954	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641134C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641134C>T							p.V252I	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			3	905	-			168					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.754G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951028	0.34471	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.14391	2.51;2.51;2.51	4.48	4.48	0.54585	.	0.327889	0.22203	N	0.063209	T	0.01765	0.0056	N	0.17631	0.505	0.09310	N	1	P;P	0.39352	0.669;0.669	B;B	0.31946	0.138;0.138	T	0.35375	-0.9791	10	0.02654	T	1	-11.9414	8.5918	0.33693	0.0:0.8957:0.0:0.1043	.	252;232	Q9NU63-3;Q9NU63-2	.;.	I	252;232;232	ENSP00000418259:V252I;ENSP00000366078:V232I;ENSP00000366080:V232I	ENSP00000366078:V232I	V	-	1	0	ZFP57	29749113	0.001000	0.12720	0.791000	0.31998	0.872000	0.50106	0.496000	0.22499	2.476000	0.83614	0.563000	0.77884	GTC		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		T	29641134	C	T	29641134	1	4	174	0	1	0	0	0	0	0	0	0	17648	536	19	1		1	ZFP57	6	29641134	IGR	SNP	C	TCGA-26-5132-01A-01D-1486-08	3393946	29641134	141473933	19	12340											
TJAP1	93643	broad.mit.edu	37	chr6	43470020	43470020	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtattatcccttttcaGgctgcagaacagctacacgg	9	12	8	12	1	1	1	1	0	0	1	2	1	2	1	2	2	4	4	2	2	4	6			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:43470020G>T	ENST00000372445.5	+	7	666		c.e7-1		TJAP1_ENST00000259751.1_Splice_Site|TJAP1_ENST00000372444.2_Splice_Site|TJAP1_ENST00000436109.2_Splice_Site|TJAP1_ENST00000372449.1_Splice_Site|TJAP1_ENST00000483640.1_Splice_Site|TJAP1_ENST00000372452.1_Splice_Site|TJAP1_ENST00000438588.2_Splice_Site	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)						Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCTTTTCAGGCTGCAGAAC	0.547																																						uc003ovd.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.e7-1		Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.							100	83	89					6																	43470020		2203	4300	6503	SO:0001630	splice_region_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43470020G>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.291-1G>T	6.37:g.43470020G>T						TJAP1_uc003ovf.2_Splice_Site_p.R97_splice|TJAP1_uc003ove.2_Splice_Site_p.R97_splice|TJAP1_uc003ovc.2_Splice_Site_p.R97_splice|TJAP1_uc010jyp.2_Splice_Site_p.R56_splice|TJAP1_uc011dvh.1_Splice_Site_p.R97_splice|TJAP1_uc003ovg.2_Splice_Site|TJAP1_uc010jyq.2_Splice_Site_p.R97_splice|TJAP1_uc011dvi.1_Splice_Site_p.R97_splice|TJAP1_uc011dvj.2_Splice_Site|TJAP1_uc003ovi.2_5'UTR	p.R97_splice	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		7	667	+	all_lung(25;0.00536)		97					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Splice_Site	SNP	ENST00000372445.5	37	c.291_splice	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428221	0.62844	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588;ENST00000454762	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1135	0.81278	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TJAP1	43577998	1.000000	0.71417	0.995000	0.50966	0.689000	0.40095	8.702000	0.91338	2.228000	0.72767	0.462000	0.41574	.		0.547	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604	Intron	T	43470020	G	T	43470020	5	4	174	1	0	0	0	0	0	0	1	0	15925	1014	35	5	304	5	TJAP1	6	43470020	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	13828886	43470020	127645047	20	12341											
HDAC2	3066	broad.mit.edu	37	chr6	114264560	114264563	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															cttatcttcttcaattctagCtttctttgctcctttcttat																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:114264560_114264563delCTTT	ENST00000519065.1	-	12	1706_1709	c.1330_1333delAAAG	c.(1330-1335)aaagctfs	p.KA444fs	HDAC2_ENST00000519108.1_Frame_Shift_Del_p.KA414fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.KA414fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.KA538fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	444					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	tcaattctagctttctttgctcct	0.353																																						uc003pwd.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1330-1335)aaagctfs		Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	Vorinostat(DB02546)																																			SO:0001589	frameshift_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114264560_114264563delCTTT	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1330_1333delAAAG	6.37:g.114264564_114264567delCTTT	ENSP00000430432:p.Lys444fs					HDAC2_uc003pwc.2_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.K414fs	p.K444fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	11	1617_1620	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	444					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Del	DEL	ENST00000519065.1	37	c.1330_1333delAAAG	CCDS43493.2																																																																																				0.353	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			-	114264563	CTTT	-	114264560	7	5	174	1	0	1	0	1	0	0	0	0	7007	797	28	0	145	0	HDAC2	6	114264560	Frame_Shift_Del	DEL	CTTT	TCGA-26-5132-01A-01D-1486-08	70794540	114264560	56850507	21	12342											
HEY2	23493	broad.mit.edu	37	chr6	126080793	126080793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccttcgcgggggcattcCccatgcttcccccaaacgca	6	9	9	17	3	0	0	0	0	0	0	4	0	3	0	5	2	2	3	5	2	1	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:126080793C>T	ENST00000368364.3	+	5	1056	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_ENST00000368365.1_Missense_Mutation_p.P241S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	287	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667																																						uc003qad.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(859-861)Ccc>Tcc		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							99	106	104					6																	126080793		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080793C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.859C>T	6.37:g.126080793C>T	ENSP00000357348:p.Pro287Ser					HEY2_uc011ebr.2_Missense_Mutation_p.P241S	p.P287S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	4	1050	+			287			Ala-rich.			Missense_Mutation	SNP	ENST00000368364.3	37	c.859C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869811	0.33069	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58506	0.34;0.33	5.64	4.76	0.60689	.	0.811285	0.11159	N	0.593236	T	0.45677	0.1354	L	0.46157	1.445	0.47308	D	0.999381	D	0.58620	0.983	P	0.49140	0.601	T	0.38542	-0.9656	10	0.18276	T	0.48	-16.9894	15.831	0.78752	0.1369:0.8631:0.0:0.0	.	287	Q9UBP5	HEY2_HUMAN	S	241;287	ENSP00000357349:P241S;ENSP00000357348:P287S	ENSP00000357348:P287S	P	+	1	0	HEY2	126122486	1.000000	0.71417	0.886000	0.34754	0.957000	0.61999	4.508000	0.60441	1.335000	0.45486	0.561000	0.74099	CCC		0.667	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			T	126080793	C	T	126080793	3	4	174	1	0	0	0	0	1	0	0	0	7079	623	22	3	877	3	HEY2	6	126080793	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	11816233	126080793	45034274	22	12343											
HOXA6	3203	broad.mit.edu	37	chr7	27185435	27185435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcgatgcggcggcgccGtgtcaggtagcggttgaagt	6	9	17	9	6	2	1	1	1	1	0	3	3	2	1	1	4	2	2	1	4	2	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:27185435G>A	ENST00000222728.3	-	2	568	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	182					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGGCGCCGTGTCAGGTAG	0.602																																						uc003syo.2																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(544-546)Cgg>Tgg		Homo sapiens homeobox A6 (HOXA6), mRNA.							154	141	146					7																	27185435		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185435G>A		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.544C>T	7.37:g.27185435G>A	ENSP00000222728:p.Arg182Trp					HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	p.R182W	NM_024014	NP_076919	P31267	HXA6_HUMAN			1	569	-			182					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.544C>T	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801745	0.90538	.	.	ENSG00000106006	ENST00000222728	D	0.96459	-4.02	5.6	4.66	0.58398	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98842	1.0755	10	0.87932	D	0	.	13.1747	0.59619	0.0:0.0:0.6627:0.3373	.	182	P31267	HXA6_HUMAN	W	182	ENSP00000222728:R182W	ENSP00000222728:R182W	R	-	1	2	HOXA6	27151960	0.984000	0.35163	0.999000	0.59377	0.996000	0.88848	1.749000	0.38319	2.627000	0.88993	0.561000	0.74099	CGG		0.602	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			A	27185435	G	A	27185435	3	1	174	1	0	0	0	0	1	0	0	0	7296	1144	40	1	161	1	HOXA6	7	27185435	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		27185435	131953228	23	12344											
CCDC132	55610	broad.mit.edu	37	chr7	92985271	92985271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggattttcaacagttttTaatgaaacttgaaaaactaa	17	15	5	4	0	1	2	1	2	0	0	1	3	1	3	0	1	3	1	0	1	6	8			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:92985271T>C	ENST00000305866.5	+	27	2782	c.2654T>C	c.(2653-2655)tTa>tCa	p.L885S	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L855S|CCDC132_ENST00000535481.1_Missense_Mutation_p.L605S|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	885						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAGTTTTTAATGAAACTT	0.303																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2653-2655)tTa>tCa		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							46	44	45					7																	92985271		1807	4066	5873	SO:0001583	missense	55610							g.chr7:92985271T>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2654T>C	7.37:g.92985271T>C	ENSP00000307666:p.Leu885Ser					CCDC132_uc003ump.3_Missense_Mutation_p.L855S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.L605S	p.L885S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		26	2782	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		885					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2654T>C	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650412	0.87958	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.77	5.77	0.91146	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.87578	0.998;0.996;0.995	T	0.79808	-0.1647	9	0.49607	T	0.09	-9.5372	16.4116	0.83717	0.0:0.0:0.0:1.0	.	605;855;885	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	S	885;855;605	.	ENSP00000307666:L885S	L	+	2	0	CCDC132	92823207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.340000	0.79590	0.528000	0.53228	TTA		0.303	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		C	92985271	T	C	92985271	3	2	174	1	0	0	0	0	1	0	0	0	2767	1764	61	4	2802	4	CCDC132	7	92985271	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	65799836	92985271	66153392	24	12345											
PEG10	23089	broad.mit.edu	37	chr7	94293142	94293142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgatggcaacccagacAtgctggctcctttcatggcc	8	10	10	13	1	1	1	1	0	0	1	3	2	2	1	3	3	2	4	3	3	1	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:94293142A>G	ENST00000482108.1	+	2	753	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	PEG10_ENST00000488574.1_Missense_Mutation_p.M92V	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	92	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAACCCAGACATGCTGGCTCC	0.562																																						uc003uno.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(274-276)Atg>Gtg		Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.							61	65	63					7																	94293142		2005	4151	6156	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293142A>G	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.274A>G	7.37:g.94293142A>G	ENSP00000417587:p.Met92Val					PEG10_uc011kie.2_Missense_Mutation_p.M168V|PEG10_uc022ahn.1_Missense_Mutation_p.M92V	p.M92V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	753	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		92			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.274A>G	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.568266	0.00895	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.10960	2.82;2.82	4.25	3.09	0.35607	.	.	.	.	.	T	0.06872	0.0175	N	0.19112	0.55	0.19775	N	0.999959	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.002	T	0.34775	-0.9815	9	0.35671	T	0.21	.	6.5645	0.22505	0.8885:0.0:0.1115:0.0	.	168;92	B4DSP0;Q86TG7	.;PEG10_HUMAN	V	92	ENSP00000417587:M92V;ENSP00000418944:M92V	ENSP00000417587:M92V	M	+	1	0	PEG10	94131078	0.316000	0.24580	1.000000	0.80357	0.994000	0.84299	0.570000	0.23653	0.795000	0.33922	0.454000	0.30748	ATG		0.562	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		G	94293142	A	G	94293142	3	3	174	1	0	0	0	0	1	0	0	0	11719	217	8	4	508	4	PEG10	7	94293142	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1307871	94293142	64845521	25	12346											
OR2AE1	81392	broad.mit.edu	37	chr7	99474406	99474406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcttgccagataggtagTtggtagccatcttcaggatg	9	14	11	7	0	3	1	1	0	2	1	3	2	3	2	2	3	2	3	2	3	3	7			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:99474406T>C	ENST00000316368.2	-	1	274	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGATAGGTAGTTGGTAGCCAT	0.468																																						uc003usc.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(250-252)aAc>aGc		Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.							116	98	104					7																	99474406		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474406T>C	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.251A>G	7.37:g.99474406T>C	ENSP00000313936:p.Asn84Ser						p.N84S	NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN			0	251	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		84					B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.251A>G	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.125911	0.37533	.	.	ENSG00000244623	ENST00000316368	T	0.00468	7.22	3.63	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000539	T	0.00724	0.0024	L	0.45422	1.42	0.20489	N	0.999897	D	0.69078	0.997	D	0.70716	0.97	T	0.52786	-0.8529	10	0.59425	D	0.04	.	7.3435	0.26650	0.0:0.1099:0.0:0.8901	.	84	Q8NHA4	O2AE1_HUMAN	S	84	ENSP00000313936:N84S	ENSP00000313936:N84S	N	-	2	0	OR2AE1	99312342	0.000000	0.05858	0.898000	0.35279	0.407000	0.30961	-0.145000	0.10265	0.763000	0.33175	0.410000	0.27636	AAC		0.468	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			C	99474406	T	C	99474406	3	2	174	1	0	0	0	0	1	0	0	0	10983	1725	60	4	724	4	OR2AE1	7	99474406	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	5181264	99474406	59664257	26	12347											
KRBA1	84626	broad.mit.edu	37	chr7	149431067	149431067	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcagcctgctgggaggAgtgcagagggccctccagga	8	4	17	12	1	0	1	0	0	0	1	1	5	1	4	4	4	4	3	4	4	0	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:149431067A>T	ENST00000485033.2	+	15	2841	c.2841A>T	c.(2839-2841)ggA>ggT	p.G947G	KRBA1_ENST00000255992.10_Silent_p.G1007G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.G947G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1008	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGGAGGAGTGCAGAGGG	0.647																																						uc003wfz.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(3019-3021)ggA>ggT		Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.							12	16	15					7																	149431067		1961	4147	6108	SO:0001819	synonymous_variant	84626							g.chr7:149431067A>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2841A>T	7.37:g.149431067A>T						KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.G615G	p.G1007G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		17	3420	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1008					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.3021A>T																																																																																					0.647	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		T	149431067	A	T	149431067	2	4	174	1	0	0	0	0	0	0	0	1	8439	291	11	5		5	KRBA1	7	149431067	Silent	SNP	A	TCGA-26-5132-01A-01D-1486-08	49956661	149431067	9707596	27	12348											
ANK1	286	broad.mit.edu	37	chr8	41519452	41519452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatctgtcgaaccaccttgCgaatgatctaggaaaggaag	13	9	10	9	2	2	1	0	1	2	0	3	5	2	3	2	2	2	0	2	2	6	3	rs370175565		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr8:41519452C>T	ENST00000347528.4	-	41	5569	c.5486G>A	c.(5485-5487)cGc>cAc	p.R1829H	ANK1_ENST00000265709.8_Missense_Mutation_p.R1870H|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.R104H|MIR486_ENST00000408108.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.R1829H|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000396942.1_Missense_Mutation_p.R1829H|ANK1_ENST00000522231.1_Missense_Mutation_p.R104H|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.R104H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1829	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AACCACCTTGCGAATGATCTA	0.602																																						uc003xok.3																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5485-5487)cGc>cAc		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							40	43	42					8																	41519452		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519452C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5486G>A	8.37:g.41519452C>T	ENSP00000339620:p.Arg1829His					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R983H|ANK1_uc003xoi.3_Missense_Mutation_p.R1829H|ANK1_uc003xoj.3_Missense_Mutation_p.R1829H|ANK1_uc003xol.3_Missense_Mutation_p.R1667H|ANK1_uc003xom.3_Missense_Mutation_p.R1870H|ANK1_uc003xof.3_Intron|ANK1_uc011lcl.2_Missense_Mutation_p.R104H|ANK1_uc003xod.3_Missense_Mutation_p.R104H|ANK1_uc003xoc.3_Missense_Mutation_p.R104H|MIR486_uc022auh.1_5'Flank	p.R1829H	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		40	5570	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1829			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5486G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658631	0.47467	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.92699	-1.22;-1.23;-1.23;-2.57;-3.08;-3.09;-1.12	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;P;P;D;D;D;D	0.89917	1.0;0.964;0.99;0.939;0.835;0.992;0.999;0.999;1.0	D;P;P;B;B;P;P;D;D	0.72982	0.949;0.536;0.781;0.433;0.326;0.832;0.828;0.931;0.979	D	0.95691	0.8740	10	0.87932	D	0	.	15.6155	0.76764	0.1385:0.8615:0.0:0.0	.	104;1870;1667;1829;1829;1829;983;104;104	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	H	1829;1829;1829;104;104;104;1870	ENSP00000339620:R1829H;ENSP00000289734:R1829H;ENSP00000380147:R1829H;ENSP00000428750:R104H;ENSP00000430368:R104H;ENSP00000319123:R104H;ENSP00000265709:R1870H	ENSP00000265709:R1870H	R	-	2	0	ANK1	41638609	1.000000	0.71417	0.987000	0.45799	0.013000	0.08279	4.933000	0.63484	1.525000	0.49052	0.561000	0.74099	CGC		0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41519452	C	T	41519452	3	4	174	1	0	0	0	0	1	0	0	0	620	768	27	1	270	1	ANK1	8	41519452	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		41519452	104844570	28	12349											
SLC28A3	64078	broad.mit.edu	37	chr9	86917142	86917142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagaaccaatggctgtttAgaagccttctgccaggagac	11	8	11	11	0	1	3	0	0	1	3	1	4	1	3	4	2	3	2	4	2	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:86917142A>G	ENST00000376238.4	-	5	546	c.497T>C	c.(496-498)cTa>cCa	p.L166P	SLC28A3_ENST00000537648.1_Missense_Mutation_p.L97P	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	166					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ATGGCTGTTTAGAAGCCTTCT	0.433																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.3																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(496-498)cTa>cCa		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.							111	102	105					9																	86917142		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86917142A>G	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.497T>C	9.37:g.86917142A>G	ENSP00000365413:p.Leu166Pro					SLC28A3_uc011lsy.2_Missense_Mutation_p.L97P|SLC28A3_uc004anu.2_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.3_Missense_Mutation_p.L97P	p.L166P	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN			4	643	-			166					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.497T>C	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678418	0.29783	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.02121	4.6;4.44	5.33	5.33	0.75918	.	0.457458	0.21815	N	0.068717	T	0.09423	0.0232	M	0.76328	2.33	0.24263	N	0.995272	P;D	0.65815	0.595;0.995	B;P	0.62649	0.15;0.905	T	0.09552	-1.0669	10	0.62326	D	0.03	-5.1866	8.9631	0.35860	0.9169:0.0:0.0831:0.0	.	97;166	B4E2S8;Q9HAS3	.;S28A3_HUMAN	P	166;97	ENSP00000365413:L166P;ENSP00000446438:L97P	ENSP00000365413:L166P	L	-	2	0	SLC28A3	86106962	0.903000	0.30736	0.031000	0.17742	0.009000	0.06853	4.619000	0.61218	2.240000	0.73641	0.533000	0.62120	CTA		0.433	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		G	86917142	A	G	86917142	3	3	174	1	0	0	0	0	1	0	0	0	14533	420	15	4	1634	4	SLC28A3	9	86917142	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		86917142	54296289	29	12350											
NAA35	60560	broad.mit.edu	37	chr9	88627995	88627995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcagatccatggacataAcagggctcgacagagagata	15	8	10	8	1	1	3	1	0	0	3	3	6	2	4	1	2	1	1	1	2	3	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:88627995A>T	ENST00000361671.5	+	16	1458	c.1325A>T	c.(1324-1326)aAc>aTc	p.N442I		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	442					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGGACATAACAGGGCTCGA	0.378																																						uc004aoi.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1324-1326)aAc>aTc		Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.							125	119	121					9																	88627995		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88627995A>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1325A>T	9.37:g.88627995A>T	ENSP00000354972:p.Asn442Ile					NAA35_uc004aoj.4_Missense_Mutation_p.N442I	p.N442I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			15	1462	+			442					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.1325A>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755472	0.89843	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87121	0.2191	9	0.87932	D	0	-14.6378	15.573	0.76354	1.0:0.0:0.0:0.0	.	442	Q5VZE5	NAA35_HUMAN	I	442	.	ENSP00000354972:N442I	N	+	2	0	NAA35	87817815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.272000	0.95707	2.076000	0.62316	0.460000	0.39030	AAC		0.378	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		T	88627995	A	T	88627995	3	4	174	1	0	0	0	0	1	0	0	0	10123	43	2	5	1383	5	NAA35	9	88627995	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1710853	88627995	52585436	30	12351											
SUSD3	203328	broad.mit.edu	37	chr9	95841846	95841846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaacaaacccgtgagCgggcccagccaggcgcacga	11	3	11	16	4	1	1	1	1	0	0	1	2	1	1	3	2	4	1	3	2	2	1	rs146086851	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:95841846C>T	ENST00000375472.3	+	4	555	c.519C>T	c.(517-519)agC>agT	p.S173S	SUSD3_ENST00000375469.1_Silent_p.S160S	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	173						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AACCCGTGAGCGGGCCCAGCC	0.642													C|||	2	0.000399361	0	0	5008	,	,		20275	0		0.002	False		,,,				2504	0					uc004atb.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(517-519)agC>agT		Homo sapiens sushi domain containing 3 (SUSD3), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	62	57	59		519	1.4	0	9	dbSNP_134	59	17,8583	13.3+/-46.6	0,17,4283	no	coding-synonymous	SUSD3	NM_145006.2		0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384		173/256	95841846	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	203328					integral to membrane		g.chr9:95841846C>T	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.519C>T	9.37:g.95841846C>T						SUSD3_uc004atc.3_Silent_p.S160S	p.S173S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			3	555	+			173					Q49AA6|Q6UXV7	Silent	SNP	ENST00000375472.3	37	c.519C>T	CCDS6701.1																																																																																				0.642	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		T	95841846	C	T	95841846	2	4	174	1	0	0	0	0	0	0	0	1	15406	767	27	1		1	SUSD3	9	95841846	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08	7213851	95841846	45371585	31	12352											
DDX31	64794	broad.mit.edu	37	chr9	135470499	135470500	+	Splice_Site	DEL	CC	CC	-																															gtcttcttatgaaggtcaggCctgaagaacagtaacagcag																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:135470499_135470500delCC	ENST00000372159.3	-	20	2461	c.2310delGG	c.(2308-2310)agg>ag	p.R770fs	DDX31_ENST00000372153.1_Splice_Site_p.R697fs|DDX31_ENST00000438527.3_Splice_Site_p.R641fs	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	770						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAAGGTCAGGCCTGAAGAACAG	0.46																																						uc004cbq.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.e20-1		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135470499_135470500delCC	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2310-1GG>-	9.37:g.135470499_135470500delCC						DDX31_uc010mzu.1_Splice_Site_p.R697_splice	p.R770_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	20	2462	-			770					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Splice_Site	DEL	ENST00000372159.3	37	c.2310_splice	CCDS6951.1																																																																																				0.46	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	Frame_Shift_Del	-	135470500	CC	-	135470499	8	5	174	1	0	1	0	1	0	0	1	0	4356	753	26	0	249	0	DDX31	9	135470499	Splice_Site	DEL	CC	TCGA-26-5132-01A-01D-1486-08	39628653	135470499	5742932	32	12353											
HSPA14	51182	broad.mit.edu	37	chr10	14891809	14891809	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcaaaaaaatgctcttGggtaagtatatggggtttat	16	12	10	3	0	1	0	0	0	1	0	1	0	1	0	0	3	2	5	0	3	9	6			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:14891809G>A	ENST00000378372.3	+	6	705	c.466G>A	c.(466-468)Gga>Aga	p.G156R		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	156					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGCTCTTGGGTAAGTATA	0.338																																						uc001inf.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.e6+1		Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.							90	95	93					10																	14891809		2203	4300	6503	SO:0001630	splice_region_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14891809G>A	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.467+1G>A	10.37:g.14891809G>A						HSPA14_uc010qbw.2_Missense_Mutation_p.G156R	p.G156_splice	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN			6	608	+			156					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.467_splice	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744627	0.49151	.	.	ENSG00000187522	ENST00000378372	T	0.00922	5.54	5.73	5.73	0.89815	.	0.140857	0.64402	D	0.000004	T	0.00608	0.0020	N	0.00637	-1.305	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75266	-0.3378	10	0.72032	D	0.01	-7.5899	19.9053	0.97004	0.0:0.0:1.0:0.0	.	156	Q0VDF9	HSP7E_HUMAN	R	156	ENSP00000367623:G156R	ENSP00000367623:G156R	G	+	1	0	HSPA14	14931815	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.800000	0.75165	2.679000	0.91253	0.650000	0.86243	GGA		0.338	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299	Missense_Mutation	A	14891809	G	A	14891809	5	1	174	1	0	0	0	0	0	0	1	0	7407	1362	47	3	488	3	HSPA14	10	14891809	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08		14891809	120642938	33	12354											
PTEN	5728	broad.mit.edu	37	chr10	89720650	89720650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttttttttttttaGgacaaaatgtttcacttttg	7	26	4	4	0	2	0	1	0	1	0	2	1	2	1	0	1	0	1	0	1	3	12			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:89720650G>A	ENST00000371953.3	+	8	2158		c.e8-1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e8-1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							22	23	23					10																	89720650		2151	4239	6390	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720650G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.802-1G>A	10.37:g.89720650G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.D268_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1834	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	268			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.802_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994774	0.74703	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89710630	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.325000	0.96381	2.399000	0.81585	0.591000	0.81541	.		0.264	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	A	89720650	G	A	89720650	5	1	174	1	0	0	0	0	0	0	1	0	12738	1014	35	3	831	3	PTEN	10	89720650	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	74828841	89720650	45814097	34	12355											
MUC2	4583	broad.mit.edu	37	chr11	1084747	1084747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacctgcaagagaggaCgctgggtgtgcacccaggct	9	6	14	12	1	1	1	1	0	0	1	1	3	1	2	2	3	3	5	2	3	1	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:1084747C>T	ENST00000441003.2	+	20	2569	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	MUC2_ENST00000359061.5_Missense_Mutation_p.R848C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	848					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGAGAGGACGCTGGGTGTG	0.602																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2542-2544)Cgc>Tgc		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						54	51	52					11																	1084747		2096	4209	6305	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1084747C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2542C>T	11.37:g.1084747C>T	ENSP00000415183:p.Arg848Cys						p.R848C	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	19	2569	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	848					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2542C>T		.	.	.	.	.	.	.	.	.	.	C	11.70	1.715705	0.30413	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.22743	1.94;1.94	4.21	2.02	0.26589	.	0.905093	0.09224	N	0.831508	T	0.40886	0.1135	M	0.78049	2.395	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.14309	-1.0477	10	0.72032	D	0.01	.	7.4556	0.27264	0.5762:0.2995:0.1243:0.0	.	848	E7EUV1	.	C	848	ENSP00000415183:R848C;ENSP00000351956:R848C	ENSP00000351956:R848C	R	+	1	0	MUC2	1074747	0.000000	0.05858	0.603000	0.28903	0.694000	0.40290	0.471000	0.22100	0.930000	0.37217	0.555000	0.69702	CGC		0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1084747	C	T	1084747	3	4	174	1	0	0	0	0	1	0	0	0	9975	536	19	1	2620	1	MUC2	11	1084747	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		1084747	133921769	35	12356											
NELL1	4745	broad.mit.edu	37	chr11	21596532	21596532	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacagaatggaagagtctgTtgttctgtggattttgagtg	9	15	14	3	0	2	3	0	1	2	2	2	5	2	5	0	2	1	3	0	2	3	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:21596532T>C	ENST00000357134.5	+	20	2549	c.2397T>C	c.(2395-2397)tgT>tgC	p.C799C	NELL1_ENST00000532434.1_Silent_p.C752C|NELL1_ENST00000298925.5_Silent_p.C827C|NELL1_ENST00000325319.5_Silent_p.C742C|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	799					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAAGAGTCTGTTGTTCTGTGG	0.353																																						uc009yid.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2479-2481)tgT>tgC		Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.							185	166	173					11																	21596532		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21596532T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2397T>C	11.37:g.21596532T>C						NELL1_uc010rdp.2_Silent_p.C512C|NELL1_uc001mqe.3_Silent_p.C799C|NELL1_uc001mqf.3_Silent_p.C752C|NELL1_uc010rdo.2_Silent_p.C742C|NELL1_uc001mqh.3_Silent_p.C344C	p.C827C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			20	2634	+			799					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2481T>C	CCDS7855.1																																																																																				0.353	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		C	21596532	T	C	21596532	2	2	174	1	0	0	0	0	0	0	0	1	10333	1731	60	4		4	NELL1	11	21596532	Silent	SNP	T	TCGA-26-5132-01A-01D-1486-08	20511785	21596532	113409984	36	12357											
OR5D18	219438	broad.mit.edu	37	chr11	55587476	55587476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggcctatgaccgctTcgtggccatttgcaaccctc	6	12	10	13	2	0	2	0	2	0	0	2	2	0	2	4	2	2	2	4	2	2	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:55587476T>C	ENST00000333976.4	+	1	391	c.371T>C	c.(370-372)tTc>tCc	p.F124S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATGACCGCTTCGTGGCCATT	0.458																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(370-372)tTc>tCc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							172	164	167					11																	55587476		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587476T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.371T>C	11.37:g.55587476T>C	ENSP00000335025:p.Phe124Ser						p.F124S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	371	+		all_epithelial(135;0.208)	124					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.371T>C	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437353	0.62955	.	.	ENSG00000186119	ENST00000333976	T	0.01347	4.99	4.84	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001172	T	0.06005	0.0156	M	0.83603	2.65	0.26371	N	0.976881	D	0.63046	0.992	D	0.65323	0.934	T	0.07986	-1.0744	10	0.87932	D	0	-32.647	5.2431	0.15483	0.4212:0.0:0.1482:0.4306	.	124	Q8NGL1	OR5DI_HUMAN	S	124	ENSP00000335025:F124S	ENSP00000335025:F124S	F	+	2	0	OR5D18	55344052	0.454000	0.25728	0.013000	0.15412	0.784000	0.44337	1.075000	0.30716	0.800000	0.34041	0.457000	0.33378	TTC		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		C	55587476	T	C	55587476	3	2	174	1	0	0	0	0	1	0	0	0	11157	1783	62	4	373	4	OR5D18	11	55587476	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	33990944	55587476	79419040	37	12358											
PANX3	116337	broad.mit.edu	37	chr11	124489386	124489386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattcagctgctccatcaAgacagggctgctaagtgatg	12	9	11	9	0	2	3	2	1	0	2	3	3	3	3	1	1	3	4	1	1	3	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:124489386A>G	ENST00000284288.2	+	4	801	c.734A>G	c.(733-735)aAg>aGg	p.K245R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	245					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTCCATCAAGACAGGGCTG	0.488																																						uc001qah.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(733-735)aAg>aGg		Homo sapiens pannexin 3 (PANX3), mRNA.							113	95	101					11																	124489386		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489386A>G	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.734A>G	11.37:g.124489386A>G	ENSP00000284288:p.Lys245Arg						p.K245R	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	3	734	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	245						Missense_Mutation	SNP	ENST00000284288.2	37	c.734A>G	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	A	9.898	1.205982	0.22205	.	.	ENSG00000154143	ENST00000284288	T	0.28255	1.62	5.24	5.24	0.73138	.	0.047874	0.85682	D	0.000000	T	0.19565	0.0470	N	0.17312	0.475	0.32968	D	0.521937	P	0.36199	0.543	B	0.34991	0.193	T	0.19679	-1.0298	10	0.17832	T	0.49	-16.6455	15.1306	0.72520	1.0:0.0:0.0:0.0	.	245	Q96QZ0	PANX3_HUMAN	R	245	ENSP00000284288:K245R	ENSP00000284288:K245R	K	+	2	0	PANX3	123994596	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	4.635000	0.61332	1.990000	0.58119	0.459000	0.35465	AAG		0.488	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			G	124489386	A	G	124489386	3	3	174	1	0	0	0	0	1	0	0	0	11422	72	3	4	748	4	PANX3	11	124489386	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	68901910	124489386	10517130	38	12359											
ABCC9	10060	broad.mit.edu	37	chr12	21995285	21995285	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttctggataaaataaaAggcaacaccaaggggcagga	17	7	11	6	0	1	0	0	0	1	0	1	2	1	2	1	5	1	3	1	5	7	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:21995285A>T	ENST00000261201.4	-	27	3435	c.3436T>A	c.(3436-3438)Ttt>Att	p.F1146I	ABCC9_ENST00000345162.2_Missense_Mutation_p.F1110I|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.F1146I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1146	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATAAAATAAAAGGCAACACCA	0.438																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3436-3438)Ttt>Att		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						112	101	105					12																	21995285		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21995285A>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3436T>A	12.37:g.21995285A>T	ENSP00000261201:p.Phe1146Ile					ABCC9_uc001rfi.1_Missense_Mutation_p.F1146I	p.F1146I	NM_020297	NP_064693	O60706	ABCC9_HUMAN			26	3456	-			1146			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3436T>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342182	0.61073	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.21	5.21	0.72293	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053505	0.85682	D	0.000000	D	0.91192	0.7225	M	0.67569	2.06	0.53688	D	0.999973	P;D	0.53462	0.741;0.96	P;P	0.52066	0.507;0.689	D	0.92035	0.5636	10	0.62326	D	0.03	-21.2695	15.2508	0.73545	1.0:0.0:0.0:0.0	.	1146;1146	O60706;O60706-2	ABCC9_HUMAN;.	I	1146;773;1146;1110	ENSP00000261200:F1146I;ENSP00000440521:F773I;ENSP00000261201:F1146I;ENSP00000261202:F1110I	ENSP00000261200:F1146I	F	-	1	0	ABCC9	21886552	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.315000	0.78998	2.186000	0.69663	0.460000	0.39030	TTT		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21995285	A	T	21995285	3	4	174	1	0	0	0	0	1	0	0	0	59	72	3	5	1403	5	ABCC9	12	21995285	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		21995285	111856610	39	12360											
ITPR2	3709	broad.mit.edu	37	chr12	26808744	26808744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtcagggcaaatttcCtcttcatatcatttctggaa	10	15	6	10	0	5	0	3	0	2	0	6	1	6	1	2	2	0	1	2	2	3	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:26808744C>T	ENST00000381340.3	-	20	2902	c.2486G>A	c.(2485-2487)aGg>aAg	p.R829K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	829					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCAAATTTCCTCTTCATATC	0.313																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2485-2487)aGg>aAg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							100	100	100					12																	26808744		1798	4068	5866	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26808744C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2486G>A	12.37:g.26808744C>T	ENSP00000370744:p.Arg829Lys						p.R829K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			19	2903	-	Colorectal(261;0.0847)		829					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2486G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071855	0.36566	.	.	ENSG00000123104	ENST00000381340	D	0.91180	-2.8	5.48	3.62	0.41486	.	0.073580	0.85682	D	0.000000	T	0.82079	0.4959	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.70777	-0.4780	10	0.08381	T	0.77	.	6.9431	0.24504	0.0:0.6739:0.1368:0.1893	.	829	Q14571	ITPR2_HUMAN	K	829	ENSP00000370744:R829K	ENSP00000370744:R829K	R	-	2	0	ITPR2	26700011	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.558000	0.23469	2.565000	0.86533	0.655000	0.94253	AGG		0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26808744	C	T	26808744	3	4	174	1	0	0	0	0	1	0	0	0	7921	681	24	3	5771	3	ITPR2	12	26808744	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	4813459	26808744	107043151	40	12361											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771195	43771195	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttccaactttccaagtGgccaaatgcaaacagctgtt	12	12	6	11	0	0	0	0	0	0	0	2	0	2	0	3	1	4	3	3	1	4	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:43771195G>C	ENST00000389420.3	-	32	4967	c.4968C>G	c.(4966-4968)gcC>gcG	p.A1656A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1656	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCAAGTGGCCAAATGCA	0.403																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4966-4968)gcC>gcG		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							90	82	85					12																	43771195		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771195G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4968C>G	12.37:g.43771195G>C							p.A1656A	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	31	4968	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1656			TSP type-1 15.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.4968C>G	CCDS31778.2																																																																																				0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43771195	G	C	43771195	2	2	174	1	0	0	0	0	0	0	0	1	266	1335	47	5		5	ADAMTS20	12	43771195	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	16962451	43771195	90080700	41	12362											
SUDS3	64426	broad.mit.edu	37	chr12	118841310	118841310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagatggcaaactgtactAtgacaaaagatggtatgtta	17	10	10	4	0	0	4	0	1	0	3	0	4	0	4	0	2	2	4	0	2	8	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:118841310A>G	ENST00000543473.1	+	10	1103	c.791A>G	c.(790-792)tAt>tGt	p.Y264C	SUDS3_ENST00000541280.1_3'UTR|SUDS3_ENST00000397564.2_Missense_Mutation_p.Y265C	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	264					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACTGTACTATGACAAAAGA	0.483																																						uc001twz.3																			0				breast(1)|lung(1)	2						c.(790-792)tAt>tGt		Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.							41	40	40					12																	118841310		1914	4133	6047	SO:0001583	missense	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118841310A>G	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.791A>G	12.37:g.118841310A>G	ENSP00000443988:p.Tyr264Cys						p.Y264C	NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN			9	930	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		264					Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	c.791A>G	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158138	0.78114	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.82186	-0.0582	9	0.87932	D	0	-6.9635	14.8967	0.70649	1.0:0.0:0.0:0.0	.	264	Q9H7L9	SDS3_HUMAN	C	264;265	.	ENSP00000380695:Y265C	Y	+	2	0	SUDS3	117325693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.069000	0.89491	2.174000	0.68829	0.533000	0.62120	TAT		0.483	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		G	118841310	A	G	118841310	3	3	174	1	0	0	0	0	1	0	0	0	15366	449	16	4	829	4	SUDS3	12	118841310	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	75070115	118841310	15010585	42	12363											
RB1	5925	broad.mit.edu	37	chr13	48953730	48953730	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	7	19	9	6	2	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	9	rs3092891	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.0?(15)|p.?(8)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.e14-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18	19	19					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation	T	48953730	C	T	48953730	5	4	174	1	0	0	0	0	0	0	1	0	13098	782	27	1	1387	1	RB1	13	48953730	Splice_Site	SNP	C	TCGA-26-5132-01A-01D-1486-08		48953730	66216148	43	12364											
THBS1	7057	broad.mit.edu	37	chr15	39874516	39874516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttccgcatcgaggatGccaacctgatcccccctgtg	7	9	9	16	2	0	1	0	1	0	0	3	3	2	2	6	1	3	2	6	1	1	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:39874516G>A	ENST00000260356.5	+	3	355	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	64	Heparin-binding.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCGAGGATGCCAACCTGAT	0.612																																						uc001zkh.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(190-192)Gcc>Acc		Homo sapiens thrombospondin 1 (THBS1), mRNA.	Becaplermin(DB00102)						61	59	59					15																	39874516		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874516G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.190G>A	15.37:g.39874516G>A	ENSP00000260356:p.Ala64Thr						p.A64T	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	2	369	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	64			Heparin-binding.|TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.190G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475311	0.84640	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.02103	4.45;4.45	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.35903	N	0.002903	T	0.06234	0.0161	L	0.59436	1.845	0.53005	D	0.999969	P	0.51057	0.941	P	0.48982	0.597	T	0.45775	-0.9238	10	0.32370	T	0.25	-34.3224	18.0692	0.89400	0.0:0.0:1.0:0.0	.	64	P07996	TSP1_HUMAN	T	64	ENSP00000260356:A64T;ENSP00000380720:A64T	ENSP00000260356:A64T	A	+	1	0	THBS1	37661808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.672000	0.61597	2.741000	0.93983	0.563000	0.77884	GCC		0.612	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		A	39874516	G	A	39874516	3	1	174	1	0	0	0	0	1	0	0	0	15850	1319	46	3	196	3	THBS1	15	39874516	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		39874516	62656876	44	12365											
CDAN1	146059	broad.mit.edu	37	chr15	43022940	43022940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgctgcagcagagtcCgcacatccaggaccggaggg	8	4	14	15	3	0	1	0	0	0	1	3	3	2	3	4	3	2	4	4	3	0	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:43022940C>T	ENST00000356231.3	-	14	2053	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	677					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGCAGAGTCCGCACATCCAG	0.647																																						uc001zql.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2029-2031)cGg>cAg		Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.							17	20	19					15																	43022940		2198	4287	6485	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43022940C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2030G>A	15.37:g.43022940C>T	ENSP00000348564:p.Arg677Gln					CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.G3R	p.R677Q	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	13	2147	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	677					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2030G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666551	0.47677	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.85861	-2.04	5.77	-1.52	0.08637	.	0.622651	0.17546	N	0.170353	T	0.67325	0.2881	N	0.16903	0.455	0.22171	N	0.999316	P	0.45283	0.855	B	0.37480	0.251	T	0.63116	-0.6709	10	0.62326	D	0.03	-0.5448	6.4878	0.22099	0.5666:0.2053:0.0:0.2281	.	677	Q8IWY9	CDAN1_HUMAN	Q	677;675	ENSP00000348564:R677Q	ENSP00000267892:R675Q	R	-	2	0	CDAN1	40810232	0.562000	0.26586	0.011000	0.14972	0.447000	0.32167	1.251000	0.32862	-0.139000	0.11414	-0.140000	0.14226	CGG		0.647	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		T	43022940	C	T	43022940	3	4	174	1	0	0	0	0	1	0	0	0	3054	652	23	2	1713	2	CDAN1	15	43022940	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	3148424	43022940	59508452	45	12366											
ZCCHC14	23174	broad.mit.edu	37	chr16	87448889	87448889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcacactcacttttccaGctccagctgggtcttgagct	7	13	7	14	0	3	1	2	1	1	0	5	1	5	1	2	1	3	3	2	1	0	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr16:87448889G>T	ENST00000268616.4	-	9	1274	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	353							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTTTCCAGCTCCAGCTGG	0.423																																						uc002fjz.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1057-1059)Ctg>Atg		Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.							130	125	127					16																	87448889		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448889G>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1057C>A	16.37:g.87448889G>T	ENSP00000268616:p.Leu353Met					ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.L129M	p.L353M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1084	-			353					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1057C>A	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119982	0.56613	.	.	ENSG00000140948	ENST00000268616	T	0.21734	1.99	5.8	3.86	0.44501	Sterile alpha motif/pointed domain (1);	0.000000	0.64402	D	0.000001	T	0.31482	0.0798	L	0.36672	1.1	0.40357	D	0.979205	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.03051	-1.1078	10	0.33940	T	0.23	-24.2363	8.7767	0.34767	0.2813:0.0:0.7187:0.0	.	353;353	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	M	353	ENSP00000268616:L353M	ENSP00000268616:L353M	L	-	1	2	ZCCHC14	86006390	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.605000	0.46283	0.822000	0.34565	0.561000	0.74099	CTG		0.423	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		T	87448889	G	T	87448889	3	4	174	1	0	0	0	0	1	0	0	0	17580	962	34	5	1812	5	ZCCHC14	16	87448889	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		87448889	2905864	46	12367											
PRPF8	10594	broad.mit.edu	37	chr17	1577829	1577829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggaaactgagaaagtcaTttggcatctgagggggccca	11	8	13	9	0	2	2	1	2	1	1	2	4	2	3	2	4	1	1	2	4	2	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:1577829T>C	ENST00000572621.1	-	20	3471	c.3206A>G	c.(3205-3207)aAt>aGt	p.N1069S	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1069S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1069	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGAAAGTCATTTGGCATCTG	0.507																																						uc002fte.3																			0		p.N1069D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3205-3207)aAt>aGt		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							152	147	149					17																	1577829		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577829T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3206A>G	17.37:g.1577829T>C	ENSP00000460348:p.Asn1069Ser						p.N1069S	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	20	3320	-			1069					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3206A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542697	0.85917	.	.	ENSG00000174231	ENST00000304992	D	0.83591	-1.74	5.25	5.25	0.73442	RNA recognition motif, spliceosomal PrP8 (1);	0.039940	0.85682	D	0.000000	D	0.92211	0.7530	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93574	0.6906	10	0.72032	D	0.01	.	15.3304	0.74203	0.0:0.0:0.0:1.0	.	1069	Q6P2Q9	PRP8_HUMAN	S	1069	ENSP00000304350:N1069S	ENSP00000304350:N1069S	N	-	2	0	PRPF8	1524579	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.868000	0.87116	2.212000	0.71576	0.260000	0.18958	AAT		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			C	1577829	T	C	1577829	3	2	174	1	0	0	0	0	1	0	0	0	12575	1493	52	4	3893	4	PRPF8	17	1577829	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08		1577829	79617381	47	12368											
ALDH3A1	218	broad.mit.edu	37	chr17	19644516	19644516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgaatttcccccaggCgatgcgtctgtgagaatccc	8	11	10	12	2	2	2	1	2	1	1	4	4	4	2	3	1	1	1	3	1	2	2	rs140108064	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:19644516C>T	ENST00000457500.2	-	5	1026	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A233T|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A233T|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A160T|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A233T	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	233					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TTCCCCCAGGCGATGCGTCTG	0.537													C|||	5	0.000998403	0.0038	0	5008	,	,		18964	0		0	False		,,,				2504	0					uc002gwk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1048-1050)Gcc>Acc		Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	NADH(DB00157)	C	THR/ALA,THR/ALA,THR/ALA	9,4397	15.5+/-35.6	0,9,2194	82	74	77		697,697,697	3.2	1	17	dbSNP_134	77	0,8600		0,0,4300	yes	missense,missense,missense	ALDH3A1	NM_001135168.1,NM_001135167.1,NM_000691.4	58,58,58	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	benign,benign,benign	233/454,233/454,233/454	19644516	9,12997	2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19644516C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.697G>A	17.37:g.19644516C>T	ENSP00000411821:p.Ala233Thr					ALDH3A1_uc010cqu.3_Missense_Mutation_p.A233T|ALDH3A1_uc010vzd.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.3_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.3_Missense_Mutation_p.A233T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T	p.A350T			P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	3	1311	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		233					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.1048G>A	CCDS11212.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.439	0.850297	0.17034	0.002043	0.0	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.47	3.25	0.37280	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.213239	0.49305	N	0.000147	T	0.57110	0.2031	N	0.21097	0.63	0.58432	D	0.999997	B;P;B	0.39883	0.01;0.693;0.01	B;B;B	0.35312	0.034;0.2;0.034	T	0.48592	-0.9022	10	0.16896	T	0.51	-0.7352	6.8307	0.23909	0.0:0.5185:0.0:0.4815	.	233;350;233	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	T	233;233;291;233;233;160;233	ENSP00000225740:A233T;ENSP00000378923:A233T;ENSP00000388469:A233T;ENSP00000411821:A233T;ENSP00000389766:A233T	ENSP00000225740:A233T	A	-	1	0	ALDH3A1	19585108	0.885000	0.30320	0.961000	0.40146	0.669000	0.39330	1.154000	0.31688	0.667000	0.31107	0.655000	0.94253	GCC		0.537	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		T	19644516	C	T	19644516	3	4	174	1	0	0	0	0	1	0	0	0	497	768	27	1	688	1	ALDH3A1	17	19644516	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	18066687	19644516	61550694	48	12369											
SEZ6	124925	broad.mit.edu	37	chr17	27287691	27287691	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgcgaatgatgagccTgaaccaggagagtggcagct	11	7	13	10	1	0	4	0	3	0	1	0	6	0	4	3	2	4	2	3	2	2	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:27287691T>A	ENST00000317338.12	-	7	1838		c.e7-2		PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Splice_Site|SEZ6_ENST00000335960.6_Splice_Site|SEZ6_ENST00000360295.9_Splice_Site			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATGATGAGCCTGAACCAGGAG	0.592																																						uc002hdp.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.e7-1		Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.							39	45	43					17																	27287691		2074	4207	6281	SO:0001630	splice_region_variant	124925					integral to membrane|plasma membrane		g.chr17:27287691T>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1410-2A>T	17.37:g.27287691T>A						SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	p.R470_splice	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		7	1604	-	Lung NSC(42;0.0137)		470			CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Splice_Site	SNP	ENST00000317338.12	37	c.1410_splice	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636258	0.67130	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381;ENST00000539265	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5852	0.50914	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEZ6	24311817	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.772000	0.68889	1.916000	0.55485	0.254000	0.18369	.		0.592	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		Intron	A	27287691	T	A	27287691	5	1	174	1	0	0	0	0	0	0	1	0	14142	1594	55	5	1633	5	SEZ6	17	27287691	Splice_Site	SNP	T	TCGA-26-5132-01A-01D-1486-08	7643175	27287691	53907519	49	12370											
KRT9	3857	broad.mit.edu	37	chr17	39724628	39724628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttccaagctcttctccaGagctgctttctaagggttag	7	14	9	11	0	4	1	0	0	4	1	6	1	5	1	2	1	3	4	2	1	3	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:39724628G>A	ENST00000246662.4	-	6	1245	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	KRT9_ENST00000588431.1_Silent_p.L161L	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	394	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCTTCTCCAGAGCTGCTTTC	0.532																																						uc002hxe.4																			0		p.A393V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1180-1182)Ctg>Ttg		Homo sapiens keratin 9 (KRT9), mRNA.							112	112	112					17																	39724628		2203	4300	6503	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724628G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1180C>T	17.37:g.39724628G>A						JUP_uc010wfs.2_Intron	p.L394L	NM_000226	NP_000217	P35527	K1C9_HUMAN			5	1246	-		Breast(137;0.000307)	394			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.1180C>T	CCDS32654.1																																																																																				0.532	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		A	39724628	G	A	39724628	2	1	174	1	0	0	0	0	0	0	0	1	8501	933	33	3		3	KRT9	17	39724628	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	12436937	39724628	41470582	50	12371											
C19orf40	91442	broad.mit.edu	37	chr19	33464993	33464993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttaaaggaattgtagtcGttgaaaaaacccggatgagt	15	11	10	5	2	1	2	0	2	1	0	2	4	1	4	1	2	1	2	1	2	7	4	rs562557952		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:33464993G>A	ENST00000588258.1	+	4	381	c.271G>A	c.(271-273)Gtt>Att	p.V91I	C19orf40_ENST00000590281.1_Missense_Mutation_p.V91I|C19orf40_ENST00000589646.1_De_novo_Start_OutOfFrame|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame|CEP89_ENST00000590597.2_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	91					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage																														uc002nud.4																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(271-273)Gtt>Att	Direct reversal of damage	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.							77	73	74					19																	33464993		2203	4300	6503	SO:0001583	missense	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464993G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.271G>A	19.37:g.33464993G>A	ENSP00000466121:p.Val91Ile					CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	p.V91I	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			3	389	+	Esophageal squamous(110;0.137)		91					B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	c.271G>A	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379589	0.61845	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.81	3.75	0.43078	.	0.056799	0.64402	D	0.000001	T	0.44435	0.1293	M	0.69823	2.125	0.35104	D	0.76554	P	0.52316	0.952	B	0.35413	0.202	T	0.58578	-0.7612	9	0.11485	T	0.65	-8.0328	14.2423	0.65966	0.0:0.0:0.8495:0.1505	.	91	Q9BTP7	FAP24_HUMAN	I	91	.	ENSP00000254262:V91I	V	+	1	0	C19orf40	38156833	1.000000	0.71417	0.773000	0.31616	0.644000	0.38419	9.004000	0.93583	1.125000	0.41998	0.467000	0.42956	GTT		0.418	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		A	33464993	G	A	33464993	3	1	174	1	0	0	0	0	1	0	0	0	1923	1145	40	1	281	1	C19orf40	19	33464993	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		33464993	25663990	51	12372											
DMRTC2	63946	broad.mit.edu	37	chr19	42352997	42352997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccaccaccagtggtgtgCcgcctgctgtaccaagaacc	9	7	10	15	1	0	1	0	0	0	1	0	1	0	1	7	1	5	2	7	1	3	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:42352997C>T	ENST00000269945.3	+	5	633	c.582C>T	c.(580-582)tgC>tgT	p.C194C	DMRTC2_ENST00000596827.1_Silent_p.C194C	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	194	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CAGTGGTGTGCCGCCTGCTGT	0.567																																						uc010xwe.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(580-582)tgC>tgT		Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.							95	94	94					19																	42352997		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352997C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.582C>T	19.37:g.42352997C>T						DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc002ors.3_Silent_p.C194C	p.C194C	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			4	665	+			194			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.582C>T	CCDS33034.1																																																																																				0.567	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		T	42352997	C	T	42352997	2	4	174	1	0	0	0	0	0	0	0	1	4591	747	26	3		3	DMRTC2	19	42352997	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08	8888004	42352997	16775986	52	12373											
CD93	22918	broad.mit.edu	37	chr20	23065459	23065459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggggccagcacccaGcctggcaggcagccacagtg	8	5	13	15	0	0	0	0	0	0	0	0	0	0	0	5	4	3	3	5	4	0	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:23065459G>A	ENST00000246006.4	-	1	1518	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	457	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCACCCAGCCTGGCAGGC	0.632																																						uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1369-1371)ggC>ggT		Homo sapiens CD93 molecule (CD93), mRNA.							36	45	42					20																	23065459		2197	4297	6494	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065459G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1371C>T	20.37:g.23065459G>A							p.G457G	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	1519	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		457			EGF-like 5; calcium-binding (Potential).		O00274	Silent	SNP	ENST00000246006.4	37	c.1371C>T	CCDS13149.1																																																																																				0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23065459	G	A	23065459	2	1	174	1	0	0	0	0	0	0	0	1	3047	958	34	3		3	CD93	20	23065459	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08		23065459	39960061	53	12374											
TOP1	7150	broad.mit.edu	37	chr20	39704846	39704848	+	In_Frame_Del	DEL	AGG	AGG	-																															tgaaaagaaacacaaagagaAggagaagaccaaacacaaag																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:39704846_39704848delAGG	ENST00000361337.2	+	4	441_443	c.191_193delAGG	c.(190-195)aaggag>aag	p.E65del		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	65	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	cacaaagagaaggagaagaccaa	0.374			T	NUP98	AML*																																	uc002xjl.3				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(190-195)aaggag>aag		Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)																																			SO:0001651	inframe_deletion	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39704846_39704848delAGG		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.191_193delAGG	20.37:g.39704846_39704848delAGG	ENSP00000354522:p.Glu65del					TOP1_uc010gge.1_Non-coding_Transcript	p.E65del	NM_003286	NP_003277	P11387	TOP1_HUMAN			3	437_439	+		Myeloproliferative disorder(115;0.00878)	65			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	In_Frame_Del	DEL	ENST00000361337.2	37	c.191_193delAGG	CCDS13312.1																																																																																				0.374	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			-	39704848	AGG	-	39704846	7	5	174	1	0	1	0	1	0	0	0	0	16360	72	3	0	205	0	TOP1	20	39704846	In_Frame_Del	DEL	AGG	TCGA-26-5132-01A-01D-1486-08	16639387	39704846	23320674	54	12375											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998785	27998785	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgccgcacccagtcccAcactatcacccttaagtcat	9	10	4	18	1	3	0	2	0	1	0	4	0	4	0	4	0	1	1	4	0	2	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:27998785A>G	ENST00000441525.1	-	1	781	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	223										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACCCAGTCCCACACTATCACC	0.498																																						uc004dbx.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(667-669)Tgg>Cgg		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							50	41	44					X																	27998785		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998785A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.667T>C	X.37:g.27998785A>G	ENSP00000405222:p.Trp223Arg						p.W223R	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	782	-			223					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.667T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040947	0.55003	.	.	ENSG00000226372	ENST00000441525	D	0.83506	-1.73	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	H	0.96547	3.84	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	D	0.89148	0.3521	10	0.87932	D	0	-6.0648	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	223	A6NGE4	DC8L1_HUMAN	R	223	ENSP00000405222:W223R	ENSP00000405222:W223R	W	-	1	0	DCAF8L1	27908706	1.000000	0.71417	0.624000	0.29186	0.504000	0.33889	5.261000	0.65496	0.571000	0.29365	0.235000	0.17854	TGG		0.498	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		G	27998785	A	G	27998785	3	3	174	1	0	0	0	0	1	0	0	0	4277	159	6	4	1139	4	DCAF8L1	23	27998785	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		27998785	127271775	55	12376											
MED12	9968	broad.mit.edu	37	chrX	70341430	70341430	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtactctggggaatttgttCagtctgcatacctgtcccgc	7	13	10	11	1	3	0	1	0	2	0	4	1	4	1	2	2	3	3	2	2	3	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:70341430C>T	ENST00000374080.3	+	7	897	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	MED12_ENST00000374102.1_Nonsense_Mutation_p.Q289*|MED12_ENST00000333646.6_Nonsense_Mutation_p.Q289*			Q93074	MED12_HUMAN	mediator complex subunit 12	289					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATTTGTTCAGTCTGCATA	0.502			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(865-867)Cag>Tag		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							42	43	42					X																	70341430		2027	4168	6195	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341430C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.865C>T	X.37:g.70341430C>T	ENSP00000363193:p.Gln289*					MED12_uc011mpq.1_Nonsense_Mutation_p.Q289*|MED12_uc004dyz.3_Nonsense_Mutation_p.Q289*|MED12_uc004dza.3_Nonsense_Mutation_p.Q136*	p.Q289*	NM_005120	NP_005111	Q93074	MED12_HUMAN			6	1064	+	Renal(35;0.156)		289					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.865C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	38	7.195983	0.98129	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.7728	18.7005	0.91618	0.0:1.0:0.0:0.0	.	.	.	.	X	289;289;289;289;257	.	ENSP00000333125:Q289X	Q	+	1	0	MED12	70258155	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.100000	0.76989	2.615000	0.88500	0.597000	0.82753	CAG		0.502	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		T	70341430	C	T	70341430	4	4	174	1	0	0	0	0	0	1	0	0	9428	827	29	3	891	3	MED12	23	70341430	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	42342645	70341430	84929130	56	12377											
MAGEA6	4105	broad.mit.edu	37	chrX	151870122	151870122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctgcatgctatgagtTcctgtggggtccaagggccc	6	11	13	11	0	0	2	0	2	0	0	3	2	3	2	4	3	2	3	4	3	2	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:151870122T>A	ENST00000329342.5	+	3	1037	c.812T>A	c.(811-813)tTc>tAc	p.F271Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	271	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTATGAGTTCCTGTGGGGT	0.532																																						uc022chf.1																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(811-813)tTc>tAc		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.							142	138	140					X																	151870122		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870122T>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.812T>A	X.37:g.151870122T>A	ENSP00000329199:p.Phe271Tyr					MAGEA6_uc004ffq.1_Missense_Mutation_p.F271Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y	p.F271Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN			0	812	+	Acute lymphoblastic leukemia(192;6.56e-05)		271			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.812T>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	12.70	2.015404	0.35511	.	.	ENSG00000197172	ENST00000329342	T	0.06768	3.26	0.879	0.879	0.19155	.	.	.	.	.	T	0.24928	0.0605	M	0.85099	2.735	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.06516	-1.0822	9	0.66056	D	0.02	.	3.7732	0.08650	0.0:0.0:0.0:1.0	.	271	P43360	MAGA6_HUMAN	Y	271	ENSP00000329199:F271Y	ENSP00000329199:F271Y	F	+	2	0	MAGEA6	151620778	0.997000	0.39634	0.093000	0.20910	0.076000	0.17211	1.558000	0.36309	0.593000	0.29745	0.151000	0.16131	TTC		0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		A	151870122	T	A	151870122	3	1	174	1	0	0	0	0	1	0	0	0	9170	1783	62	5	814	5	MAGEA6	23	151870122	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	81528692	151870122	3400438	57	12378											
MUTYH	4595	broad.mit.edu	37	chr1	45797465	45797465	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgaccactcccagggTctggtcccagggctccgagg	7	7	14	13	1	1	1	0	1	1	0	4	3	4	1	4	4	0	2	4	4	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:45797465T>A	ENST00000372098.3	-	12	1178	c.1045A>T	c.(1045-1047)Acc>Tcc	p.T349S	MUTYH_ENST00000450313.1_Missense_Mutation_p.T352S|MUTYH_ENST00000448481.1_Missense_Mutation_p.T335S|MUTYH_ENST00000354383.6_Missense_Mutation_p.T325S|MUTYH_ENST00000355498.2_Missense_Mutation_p.T324S|MUTYH_ENST00000372115.3_Missense_Mutation_p.T338S|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.T324S|MUTYH_ENST00000372110.3_Missense_Mutation_p.T339S|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.T335S|MUTYH_ENST00000456914.2_Missense_Mutation_p.T324S|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.T338S			Q9UIF7	MUTYH_HUMAN	mutY homolog	349					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACTCCCAGGGTCTGGTCCCAG	0.652			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.3			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1045-1047)Acc>Tcc	Base excision repair (BER), DNA glycosylases	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.							19	22	21					1																	45797465		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797465T>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1045A>T	1.37:g.45797465T>A	ENSP00000361170:p.Thr349Ser					MUTYH_uc001cnf.3_Missense_Mutation_p.T324S|MUTYH_uc009vxo.3_Missense_Mutation_p.T324S|MUTYH_uc001cng.3_Missense_Mutation_p.T335S|MUTYH_uc001cnj.3_Missense_Mutation_p.T232S|MUTYH_uc001cni.3_Missense_Mutation_p.T324S|MUTYH_uc001cnh.3_Missense_Mutation_p.T325S|MUTYH_uc001cnl.3_Missense_Mutation_p.T338S|MUTYH_uc009vxp.3_Missense_Mutation_p.T352S|MUTYH_uc001cnn.3_Missense_Mutation_p.T339S|MUTYH_uc001cno.3_Missense_Mutation_p.T232S|MUTYH_uc010oll.2_Intron	p.T349S	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			11	1261	-	Acute lymphoblastic leukemia(166;0.155)		349					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1045A>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	T	1.460	-0.562700	0.03939	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971	T;T;T;T;T;T;T;T;T;T;T	0.20738	3.34;3.34;3.34;3.34;3.34;3.33;3.33;3.33;3.33;3.34;2.05	5.5	4.38	0.52667	.	1.097440	0.06599	N	0.753370	T	0.11110	0.0271	N	0.16266	0.395	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.39961	-0.9588	10	0.02654	T	1	-9.1023	5.3409	0.15982	0.1566:0.1079:0.0:0.7355	.	352;349;339;349;338;232;325	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	S	324;335;324;325;324;349;339;338;352;335;196;196	ENSP00000361176:T324S;ENSP00000409718:T335S;ENSP00000407590:T324S;ENSP00000346354:T325S;ENSP00000347685:T324S;ENSP00000361170:T349S;ENSP00000361182:T339S;ENSP00000361187:T338S;ENSP00000408176:T352S;ENSP00000361172:T335S;ENSP00000410263:T196S	ENSP00000346354:T325S	T	-	1	0	MUTYH	45570052	0.000000	0.05858	0.447000	0.26932	0.612000	0.37316	0.423000	0.21313	2.100000	0.63781	0.533000	0.62120	ACC		0.652	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		A	45797465	T	A	45797465	3	1	175	1	0	0	0	0	1	0	0	0	9993	1667	58	5	615	5	MUTYH	1	45797465	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		45797465	203453156	1	12379											
CTSK	1513	broad.mit.edu	37	chr1	150771721	150771721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcatggttcagattatcGctattgcagctttcatcata	10	15	7	9	1	3	1	3	0	0	1	4	1	3	1	0	1	3	5	0	1	3	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:150771721G>A	ENST00000271651.3	-	7	923	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	271					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGATTATCGCTATTGCAGC	0.433																																						uc001evp.2																			0				cervix(1)|endometrium(1)|lung(4)|skin(1)	7						c.(811-813)agC>agT		Homo sapiens cathepsin K (CTSK), mRNA.							165	148	154					1																	150771721		2203	4300	6503	SO:0001819	synonymous_variant	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150771721G>A	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.813C>T	1.37:g.150771721G>A							p.S271S	NM_000396	NP_000387	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1042	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		271					Q6FHS6	Silent	SNP	ENST00000271651.3	37	c.813C>T	CCDS969.1																																																																																				0.433	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		A	150771721	G	A	150771721	2	1	175	1	0	0	0	0	0	0	0	1	4037	1078	38	1		1	CTSK	1	150771721	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	104974256	150771721	98478900	2	12380											
FCRL1	115350	broad.mit.edu	37	chr1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaactgagcagatgaggAccagcctgtctccctccatc	10	8	9	14	0	1	3	0	2	1	1	4	4	2	4	4	1	4	2	4	1	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:157772382A>C	ENST00000368176.3	-	4	459	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_ENST00000491942.1_Missense_Mutation_p.V131G|FCRL1_ENST00000358292.3_Missense_Mutation_p.V131G|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	131	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGATGAGGACCAGCCTGTC	0.542																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(391-393)gTc>gGc		Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.							68	61	63					1																	157772382		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772382A>C	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.392T>G	1.37:g.157772382A>C	ENSP00000357158:p.Val131Gly					FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.V131G|FCRL1_uc001fri.3_Missense_Mutation_p.V131G|FCRL1_uc001frj.3_Intron	p.V131G	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	505	-	all_hematologic(112;0.0378)		131			Ig-like C2-type 2.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.392T>G	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436286	0.43224	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.13901	2.55;2.55;2.55	5.41	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586754	0.16416	N	0.215370	T	0.30665	0.0772	M	0.93375	3.41	0.47905	D	0.999544	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.71656	0.974;0.962;0.971	T	0.12477	-1.0546	10	0.66056	D	0.02	.	7.2524	0.26156	0.8242:0.0:0.1758:0.0	.	131;131;131	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	G	131	ENSP00000351039:V131G;ENSP00000357158:V131G;ENSP00000418130:V131G	ENSP00000351039:V131G	V	-	2	0	FCRL1	156039006	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	2.156000	0.42310	0.445000	0.26639	0.533000	0.62120	GTC		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		C	157772382	A	C	157772382	3	2	175	1	0	0	0	0	1	0	0	0	5794	275	10	5	995	5	FCRL1	1	157772382	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	7000661	157772382	91478239	3	12381											
HMCN1	83872	broad.mit.edu	37	chr1	186097315	186097315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccacttttactgaacttCctggagacgtgtcattaaat	10	14	6	11	1	1	2	1	1	0	1	3	3	3	2	3	1	2	0	3	1	4	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:186097315C>A	ENST00000271588.4	+	83	13025	c.12796C>A	c.(12796-12798)Cct>Act	p.P4266T	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4266T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4266	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACTGAACTTCCTGGAGACGT	0.418																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12796-12798)Cct>Act		Homo sapiens hemicentin 1 (HMCN1), mRNA.							122	109	113					1																	186097315		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097315C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12796C>A	1.37:g.186097315C>A	ENSP00000271588:p.Pro4266Thr					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	p.P4266T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			82	13025	+			4266			Ig-like C2-type 42.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12796C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622510	0.66787	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.41065	1.01;1.01	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051742	0.85682	D	0.000000	T	0.69628	0.3132	M	0.85197	2.74	0.46149	D	0.998894	D	0.89917	1.0	D	0.91635	0.999	T	0.71735	-0.4503	10	0.44086	T	0.13	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	4266	Q96RW7	HMCN1_HUMAN	T	4266	ENSP00000271588:P4266T;ENSP00000356462:P4266T	ENSP00000271588:P4266T	P	+	1	0	HMCN1	184363938	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.726000	0.68515	2.502000	0.84385	0.585000	0.79938	CCT		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186097315	C	A	186097315	3	1	175	1	0	0	0	0	1	0	0	0	7220	855	30	5	13126	5	HMCN1	1	186097315	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	28324933	186097315	63153306	4	12382											
CACNA1S	779	broad.mit.edu	37	chr1	201021762	201021762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtcccatccaccaaggcGatcttcccaaacatctgcaa	11	8	7	15	1	2	0	0	0	2	0	5	1	5	0	4	2	2	1	4	2	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:201021762G>A	ENST00000362061.3	-	32	4102	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I	CACNA1S_ENST00000367338.3_Silent_p.I1273I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1292					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACCAAGGCGATCTTCCCAA	0.557																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3874-3876)atC>atT		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						229	195	206					1																	201021762		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201021762G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3876C>T	1.37:g.201021762G>A							p.I1292I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			31	4103	-			1292					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3876C>T	CCDS1407.1																																																																																				0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201021762	G	A	201021762	2	1	175	1	0	0	0	0	0	0	0	1	2547	1048	37	2		2	CACNA1S	1	201021762	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	14924447	201021762	48228859	5	12383											
C1orf69	200205	broad.mit.edu	37	chr1	228362831	228362831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatccctgcaggcgttcctGagggggtccgagacttgcct	6	9	13	13	2	0	2	0	1	0	1	3	3	3	2	4	3	2	2	4	3	1	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:228362831G>A	ENST00000366711.3	+	3	690	c.688G>A	c.(688-690)Gag>Aag	p.E230K	IBA57_ENST00000546123.1_Missense_Mutation_p.E37K|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	230					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGGCGTTCCTGAGGGGGTCCG	0.627																																						uc001hsl.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(688-690)Gag>Aag		Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.							46	51	49					1																	228362831		2203	4300	6503	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362831G>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.688G>A	1.37:g.228362831G>A	ENSP00000355672:p.Glu230Lys					IBA57_uc010pvw.2_Missense_Mutation_p.E37K	p.E230K	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			2	777	+			230						Missense_Mutation	SNP	ENST00000366711.3	37	c.688G>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426631	0.96131	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.75154	-0.91;0.87	5.5	5.5	0.81552	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, N-terminal (1);	0.102951	0.64402	D	0.000004	D	0.89287	0.6672	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90702	0.4621	10	0.62326	D	0.03	-28.8069	19.3799	0.94529	0.0:0.0:1.0:0.0	.	230	Q5T440	CAF17_HUMAN	K	230;37	ENSP00000355672:E230K;ENSP00000437347:E37K	ENSP00000355672:E230K	E	+	1	0	IBA57	226429454	1.000000	0.71417	0.981000	0.43875	0.686000	0.39977	7.396000	0.79891	2.584000	0.87258	0.655000	0.94253	GAG		0.627	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		A	228362831	G	A	228362831	3	1	175	1	0	0	0	0	1	0	0	0	2057	1291	45	3	698	3	C1orf69	1	228362831	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	27341069	228362831	20887790	6	12384											
TMEM18	129787	broad.mit.edu	37	chr2	669581	669581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaagcagctgctgcccctCagtcttctttccttctcctt	4	15	5	17	0	4	0	1	0	3	0	7	0	6	0	5	0	4	3	5	0	1	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:669581C>T	ENST00000281017.3	-	5	515	c.422G>A	c.(421-423)tGa>tAa	p.*141*	TMEM18_ENST00000355654.2_Silent_p.*128*|TMEM18_ENST00000405941.3_Silent_p.*144*	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	0					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TGCTGCCCCTCAGTCttcttt	0.512																																						uc002qwl.3																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(421-423)tGa>tAa		Homo sapiens transmembrane protein 18 (TMEM18), mRNA.							161	145	150					2																	669581		2203	4300	6503	SO:0001819	synonymous_variant	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:669581C>T	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.422G>A	2.37:g.669581C>T						TMEM18_uc002qwk.3_Non-coding_Transcript	p.*141*	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	4	516	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	0					D6W4X9|Q8N5H2|Q9NTH3	Silent	SNP	ENST00000281017.3	37	c.422G>A	CCDS33141.1																																																																																				0.512	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		T	669581	C	T	669581	2	4	175	1	0	0	0	0	0	0	0	1	16095	837	29	3		3	TMEM18	2	669581	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		669581	242529792	7	12385											
GREB1	9687	broad.mit.edu	37	chr2	11750922	11750922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaagaactacacgtcGgtggagacgctggagatcac	13	6	13	9	3	1	5	1	1	0	4	2	7	1	5	0	3	2	1	0	3	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:11750922G>A	ENST00000381486.2	+	18	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_ENST00000234142.5_Silent_p.S925S|GREB1_ENST00000396123.1_5'Flank	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	925						integral component of membrane (GO:0016021)		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - coding silent(1)	p.S925S(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2773-2775)tcG>tcA		Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.							42	46	45					2																	11750922		2069	4221	6290	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11750922G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2775G>A	2.37:g.11750922G>A						GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank	p.S925S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	17	3075	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		925					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2775G>A	CCDS42655.1																																																																																				0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11750922	G	A	11750922	2	1	175	1	0	0	0	0	0	0	0	1	6760	1103	39	2		2	GREB1	2	11750922	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	11081341	11750922	231448451	8	12386											
APOB	338	broad.mit.edu	37	chr2	21225763	21225763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggaattcttgagtaacTcgtaccaagccatcaaacac	15	10	6	10	1	2	1	1	1	1	0	3	2	2	2	2	1	4	2	2	1	6	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:21225763T>C	ENST00000233242.1	-	29	12658	c.12531A>G	c.(12529-12531)cgA>cgG	p.R4177R	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4177					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGAGTAACTCGTACCAAGC	0.463																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12529-12531)cgA>cgG		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						71	68	69					2																	21225763		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225763T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12531A>G	2.37:g.21225763T>C							p.R4177R	NM_000384	NP_000375	P04114	APOB_HUMAN			28	12659	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4177					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12531A>G	CCDS1703.1																																																																																				0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21225763	T	C	21225763	2	2	175	1	0	0	0	0	0	0	0	1	785	1538	54	4		4	APOB	2	21225763	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	9474841	21225763	221973610	9	12387											
FAM128A	653784	broad.mit.edu	37	chr2	132241729	132241729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcctctggctggatccctCgtggttgctgcgttccgcca	3	12	11	15	3	1	0	0	0	1	0	5	1	4	1	4	3	2	4	4	3	0	2	rs368959769		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:132241729C>T	ENST00000309451.6	-	3	427	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	128						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						CTGGATCCCTCGTGGTTGCTG	0.642																																						uc002tsw.4																			0				breast(1)|lung(1)	2						c.(382-384)Gag>Aag		Homo sapiens mitotic spindle organizing protein 2A (MZT2A), mRNA.		C	LYS/GLU	1,4405		0,1,2202	52	64	60		382	2.2	0	2		60	0,8600		0,0,4300	no	missense	MZT2A	NM_001085365.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	128/159	132241729	1,13005	2203	4300	6503	SO:0001583	missense	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132241729C>T	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.382G>A	2.37:g.132241729C>T	ENSP00000311500:p.Glu128Lys					MZT2A_uc002tsv.4_Non-coding_Transcript	p.E128K	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN			2	497	-			128					Q3SWV8|Q8WVB2	Missense_Mutation	SNP	ENST00000309451.6	37	c.382G>A	CCDS42758.1	.	.	.	.	.	.	.	.	.	.	c	9.280	1.047836	0.19827	2.27E-4	0.0	ENSG00000173272	ENST00000309451	T	0.55760	0.5	2.24	2.24	0.28232	.	0.108661	0.64402	D	0.000009	T	0.43523	0.1251	L	0.58101	1.795	0.36960	D	0.893311	B	0.29671	0.254	B	0.15484	0.013	T	0.54886	-0.8226	10	0.54805	T	0.06	-8.3934	10.1507	0.42791	0.0:1.0:0.0:0.0	.	128	Q6P582	MZT2A_HUMAN	K	128	ENSP00000311500:E128K	ENSP00000311500:E128K	E	-	1	0	MZT2A	131958199	0.994000	0.37717	0.046000	0.18839	0.008000	0.06430	3.737000	0.55060	1.243000	0.43853	0.194000	0.17425	GAG		0.642	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			T	132241729	C	T	132241729	3	4	175	1	0	0	0	0	1	0	0	0	5434	893	31	2	98	2	FAM128A	2	132241729	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	111015966	132241729	110957644	10	12388											
FMNL2	114793	broad.mit.edu	37	chr2	153399316	153399316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctcaaaggctatctggatCcagctgtaaccaggaaggta	13	8	11	9	0	2	0	1	0	1	0	3	2	3	2	2	4	3	5	2	4	5	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:153399316C>T	ENST00000288670.9	+	3	632	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	89	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTATCTGGATCCAGCTGTAAC	0.433																																						uc002tye.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(265-267)Cca>Tca		Homo sapiens formin-like 2 (FMNL2), mRNA.							144	135	138					2																	153399316		1915	4102	6017	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153399316C>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.265C>T	2.37:g.153399316C>T	ENSP00000288670:p.Pro89Ser						p.P89S	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			2	632	+			89			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.265C>T	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098182	0.94197	.	.	ENSG00000157827	ENST00000288670	D	0.92199	-2.99	6.02	6.02	0.97574	.	0.099000	0.64402	D	0.000001	D	0.95430	0.8516	M	0.62209	1.925	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	D	0.94163	0.7416	10	0.41790	T	0.15	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	89	Q96PY5-3	.	S	89	ENSP00000288670:P89S	ENSP00000288670:P89S	P	+	1	0	FMNL2	153107562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.137000	0.77295	2.865000	0.98341	0.655000	0.94253	CCA		0.433	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		T	153399316	C	T	153399316	3	4	175	1	0	0	0	0	1	0	0	0	5952	855	30	3	275	3	FMNL2	2	153399316	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	21157587	153399316	89800057	11	12389											
ACVR1C	130399	broad.mit.edu	37	chr2	158485147	158485147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagcgctgagcagagcgCccgggtcatcgccaccaggc	7	3	16	15	5	1	2	1	1	0	1	2	3	1	3	3	3	3	2	3	3	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:158485147C>T	ENST00000243349.8	-	1	370	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ACVR1C_ENST00000335450.7_Missense_Mutation_p.A4T|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A4T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAGCAGAGCGCCCGGGTCATC	0.751																																						uc002tzk.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(10-12)Gcg>Acg		Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.							4	5	5					2																	158485147		1911	3852	5763	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158485147C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.10G>A	2.37:g.158485147C>T	ENSP00000243349:p.Ala4Thr					ACVR1C_uc002tzl.4_Missense_Mutation_p.A4T|ACVR1C_uc010fof.3_Missense_Mutation_p.A4T	p.A4T	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN			0	253	-			4						Missense_Mutation	SNP	ENST00000243349.8	37	c.10G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520436	0.64747	.	.	ENSG00000123612	ENST00000243349;ENST00000348328;ENST00000335450	D;D;D	0.92545	-2.34;-3.06;-2.5	3.88	2.95	0.34219	.	0.000000	0.43579	U	0.000560	D	0.85978	0.5823	L	0.58101	1.795	0.20196	N	0.999929	P;B;P	0.40000	0.698;0.448;0.573	B;B;B	0.27170	0.077;0.046;0.035	T	0.76509	-0.2933	10	0.38643	T	0.18	.	8.6779	0.34189	0.2286:0.7714:0.0:0.0	.	4;4;4	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	T	4	ENSP00000243349:A4T;ENSP00000335139:A4T;ENSP00000335178:A4T	ENSP00000243349:A4T	A	-	1	0	ACVR1C	158193393	0.982000	0.34865	0.737000	0.30932	0.911000	0.54048	1.225000	0.32551	0.681000	0.31386	0.313000	0.20887	GCG		0.751	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		T	158485147	C	T	158485147	3	4	175	1	0	0	0	0	1	0	0	0	222	739	26	3	1507	3	ACVR1C	2	158485147	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	5085831	158485147	84714226	12	12390											
CPS1	1373	broad.mit.edu	37	chr2	211476895	211476895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaagctttacggatgTgccacccatctatagaaggt	12	10	9	10	1	1	2	0	0	1	2	2	3	2	3	3	2	3	1	3	2	5	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:211476895T>C	ENST00000233072.5	+	20	2642	c.2446T>C	c.(2446-2448)Tgc>Cgc	p.C816R	CPS1_ENST00000430249.2_Missense_Mutation_p.C822R|CPS1_ENST00000451903.2_Missense_Mutation_p.C365R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	816			C -> R (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTACGGATGTGCCACCCATC	0.413																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2464-2466)Tgc>Cgc		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							146	146	146					2																	211476895		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476895T>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2446T>C	2.37:g.211476895T>C	ENSP00000233072:p.Cys816Arg					CPS1_uc002vee.4_Missense_Mutation_p.C816R|CPS1_uc010fus.3_Missense_Mutation_p.C365R	p.C822R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2546	+			816					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2464T>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340123	0.81911	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.95482	-3.72;-3.72;-3.72	5.25	5.25	0.73442	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	L	0.46741	1.465	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.51806	0.68;0.68	D	0.95666	0.8719	10	0.87932	D	0	.	15.4451	0.75223	0.0:0.0:0.0:1.0	.	826;816	Q59HF8;P31327	.;CPSM_HUMAN	R	822;824;816;365	ENSP00000402608:C822R;ENSP00000233072:C816R;ENSP00000406136:C365R	ENSP00000233072:C816R	C	+	1	0	CPS1	211185140	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.456000	0.80751	2.106000	0.64143	0.455000	0.32223	TGC		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			C	211476895	T	C	211476895	3	2	175	1	0	0	0	0	1	0	0	0	3823	1696	59	4	2546	4	CPS1	2	211476895	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	52991748	211476895	31722478	13	12391											
CYP27A1	1593	broad.mit.edu	37	chr2	219677652	219677652	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgctttcacagggaagAagctgattgatgagaagctc	11	11	12	7	0	1	4	1	3	0	2	2	6	1	5	0	1	3	4	0	1	3	3	rs72551319		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:219677652A>C	ENST00000258415.4	+	5	1277	c.850A>C	c.(850-852)Aag>Cag	p.K284Q		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	284					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CACAGGGAAGAAGCTGATTGA	0.517																																						uc002viz.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26	GRCh37	CM942104	CYP27A1	M	rs72551319	c.(850-852)Aag>Cag		Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	Cholecalciferol(DB00169)						76	79	78					2																	219677652		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677652A>C	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.850A>C	2.37:g.219677652A>C	ENSP00000258415:p.Lys284Gln						p.K284Q	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	4	1284	+		Renal(207;0.0474)	284					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.850A>C	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393182	0.42410	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.67865	-0.29;-0.29	5.44	5.44	0.79542	.	0.431905	0.28841	N	0.013968	T	0.62417	0.2426	L	0.55481	1.735	0.39867	D	0.973451	B	0.24258	0.1	B	0.19666	0.026	T	0.61520	-0.7046	10	0.39692	T	0.17	-25.2237	14.836	0.70183	1.0:0.0:0.0:0.0	.	284	Q02318	CP27A_HUMAN	Q	284;190	ENSP00000258415:K284Q;ENSP00000392671:K190Q	ENSP00000258415:K284Q	K	+	1	0	CYP27A1	219385896	0.990000	0.36364	1.000000	0.80357	0.989000	0.77384	2.253000	0.43205	2.285000	0.76669	0.533000	0.62120	AAG		0.517	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			C	219677652	A	C	219677652	3	2	175	1	0	0	0	0	1	0	0	0	4158	247	9	5	868	5	CYP27A1	2	219677652	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	8200757	219677652	23521721	14	12392											
C2orf54	79919	broad.mit.edu	37	chr2	241831024	241831024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcaagctgccctcaGggaatccgggcatctgctgc	6	10	10	15	1	3	0	2	0	2	0	6	1	5	1	3	2	4	3	3	2	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:241831024G>A	ENST00000388934.4	-	2	829	c.671C>T	c.(670-672)cCt>cTt	p.P224L	C2orf54_ENST00000307486.8_Missense_Mutation_p.P75L|C2orf54_ENST00000402775.2_Missense_Mutation_p.P56L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	224										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTGCCCTCAGGGAATCCGGG	0.647																																						uc002wae.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(670-672)cCt>cTt		Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.							48	57	54					2																	241831024		2014	4171	6185	SO:0001583	missense	79919							g.chr2:241831024G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.671C>T	2.37:g.241831024G>A	ENSP00000373586:p.Pro224Leu					C2orf54_uc002wac.3_Missense_Mutation_p.P56L|C2orf54_uc002wad.3_Missense_Mutation_p.P75L	p.P224L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	830	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	224					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.671C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447276	0.63178	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.14516	2.76;2.76;2.5	4.11	4.11	0.48088	.	0.000000	0.53938	D	0.000052	T	0.35740	0.0942	M	0.74881	2.28	0.48087	D	0.999585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.17048	-1.0382	10	0.87932	D	0	-1.4949	12.186	0.54239	0.0:0.0:1.0:0.0	.	224;75;56	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	L	56;75;224	ENSP00000385338:P56L;ENSP00000302779:P75L;ENSP00000373586:P224L	ENSP00000302779:P75L	P	-	2	0	C2orf54	241479697	1.000000	0.71417	0.087000	0.20705	0.008000	0.06430	3.915000	0.56409	2.013000	0.59113	0.491000	0.48974	CCT		0.647	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		A	241831024	G	A	241831024	3	1	175	1	0	0	0	0	1	0	0	0	2175	1000	35	3	688	3	C2orf54	2	241831024	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	22153372	241831024	1368349	15	12393											
CX3CR1	1524	broad.mit.edu	37	chr3	39307958	39307958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcctcagccaaatcatCgtactcaaagttttctgtca	12	11	6	12	1	5	0	4	0	1	0	6	0	5	0	2	1	2	2	2	1	3	3	rs373233918		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:39307958C>T	ENST00000541347.1	-	2	282	c.43G>A	c.(43-45)Gat>Aat	p.D15N	CX3CR1_ENST00000399220.2_Missense_Mutation_p.D15N|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D15N|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D47N	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	15					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448																																						uc021wwc.1																			1	Substitution - Missense(1)	p.D15N(1)	skin(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)Gat>Aat		Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.							67	67	67					3																	39307958		1933	4148	6081	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307958C>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.43G>A	3.37:g.39307958C>T	ENSP00000439140:p.Asp15Asn					CX3CR1_uc021wwa.1_Missense_Mutation_p.D15N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D15N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D15N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D15N	p.D47N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	1	179	-			15					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.139G>A	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560687	0.45590	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	T;T;T;T;T;T	0.66638	-0.22;-0.21;-0.22;-0.22;1.55;1.39	5.39	4.51	0.55191	.	0.654924	0.14021	N	0.346813	T	0.68613	0.3020	M	0.77313	2.365	0.09310	N	1	D	0.60575	0.988	B	0.42319	0.383	T	0.63161	-0.6699	10	0.46703	T	0.11	.	14.1756	0.65539	0.1511:0.8489:0.0:0.0	.	15	P49238	CX3C1_HUMAN	N	15;23;47;15;15;15;15	ENSP00000382166:D15N;ENSP00000351059:D47N;ENSP00000439140:D15N;ENSP00000444928:D15N;ENSP00000394960:D15N;ENSP00000408835:D15N	ENSP00000351059:D47N	D	-	1	0	CX3CR1	39282962	0.213000	0.23551	0.254000	0.24359	0.113000	0.19764	1.006000	0.29847	1.267000	0.44247	0.655000	0.94253	GAT		0.448	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		T	39307958	C	T	39307958	3	4	175	1	0	0	0	0	1	0	0	0	4075	884	31	2	1028	2	CX3CR1	3	39307958	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		39307958	158714472	16	12394											
BAP1	51533	broad.mit.edu	37	chr3	52442518	52442518	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagaacatgttattcacaAtatcatcatcaatcacggac	17	10	4	10	1	5	1	5	0	0	1	5	2	5	2	0	1	1	1	0	1	6	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:52442518A>G	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.I76T|BAP1_ENST00000296288.5_Missense_Mutation_p.I76T	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I72fs*7(1)|p.I76fs*45(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTTATTCACAATATCATCATC	0.478																																						uc003ddx.3										"N, Mis, F, S, O"						"mesothelioma, uveal melanoma"	"uveal melanoma, breast, NSCLC, RCC"		2	Deletion - Frameshift(2)	p.I76fs*45(2)|p.I72fs*7(1)|p.D75G(1)	eye(1)|pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(226-228)aTt>aCt		Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.							66	55	59					3																	52442518		2202	4299	6501	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442518A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442518A>G	Exception_encountered					PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	p.I76T	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	342	-			76					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.227T>C	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719674	0.68844	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53640	0.61;0.61	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.101747	0.64402	D	0.000002	T	0.47857	0.1468	L	0.35644	1.08	0.80722	D	1	P	0.41080	0.737	P	0.46685	0.524	T	0.42783	-0.9431	10	0.40728	T	0.16	-2.6379	15.6492	0.77078	1.0:0.0:0.0:0.0	.	76	Q92560	BAP1_HUMAN	T	76	ENSP00000417132:I76T;ENSP00000296288:I76T	ENSP00000296288:I76T	I	-	2	0	BAP1	52417558	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.297000	0.96120	2.106000	0.64143	0.533000	0.62120	ATT		0.478	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52442518	A	G	52442518	1	3	175	0	1	0	0	0	0	0	0	0	1311	101	4	4		4	BAP1	3	52442518	5'Flank	SNP	A	TCGA-26-5133-01A-01D-1486-08	13134560	52442518	145579912	17	12395											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-																															ttgtgatggagttcctcaacGggggggacctgatgtaccac																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						uc003dgl.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1294-1296)gggfs		Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.							215	220	218					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1647	+		Ovarian(412;0.0728)	432			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			-	53220653	G	-	53220653	7	5	175	1	0	1	0	1	0	0	0	0	12509	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	778135	53220653	144801777	18	12396											
ATXN7	6314	broad.mit.edu	37	chr3	63898472	63898472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggacggcgggcccggCgccgcctccacctcggccgc	3	2	16	20	8	0	0	0	0	0	0	2	2	1	2	7	6	0	0	7	6	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:63898472C>T	ENST00000295900.6	+	3	748	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ATXN7_ENST00000538065.1_Silent_p.G66G|ATXN7_ENST00000487717.1_Silent_p.G66G|ATXN7_ENST00000398590.3_Silent_p.G66G	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	66					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		gcgggcccggcgccgccTCCA	0.746																																						uc003dlv.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(196-198)ggC>ggT		Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.							16	18	17					3																	63898472		1822	4046	5868	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63898472C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.198C>T	3.37:g.63898472C>T						ATXN7_uc003dlw.4_Silent_p.G66G|ATXN7_uc021wzy.1_Silent_p.G66G|ATXN7_uc010hnu.1_Non-coding_Transcript	p.G66G	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	2	751	+		Prostate(884;0.0181)	66					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.198C>T	CCDS43102.1																																																																																				0.746	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		T	63898472	C	T	63898472	2	4	175	1	0	0	0	0	0	0	0	1	1215	755	27	1		1	ATXN7	3	63898472	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	10677819	63898472	134123958	19	12397											
SR140	23350	broad.mit.edu	37	chr3	142731118	142731118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcggacacgacctaagAgcccaagaaaacataattat	18	6	7	10	2	0	2	0	0	0	2	1	4	0	3	2	1	2	0	2	1	7	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:142731118A>G	ENST00000473835.2	+	3	235	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S49G	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	49					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACGACCTAAGAGCCCAAGAAA	0.388																																						uc003evh.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(145-147)Agc>Ggc		Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.							88	81	83					3																	142731118		1850	4080	5930	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142731118A>G	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.145A>G	3.37:g.142731118A>G	ENSP00000418563:p.Ser49Gly					U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.S49G|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.S49G	p.S49G	NM_001080415	NP_001073884	O15042	SR140_HUMAN			2	244	+			49					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.145A>G	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113447	0.56398	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11063	2.81;2.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	N	0.14661	0.345	0.80722	D	1	B;B;B	0.28667	0.14;0.219;0.14	B;P;P	0.51806	0.153;0.68;0.481	T	0.35176	-0.9799	10	0.87932	D	0	-10.2041	12.5837	0.56406	1.0:0.0:0.0:0.0	.	49;49;49	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	G	49;49;49;49;19	ENSP00000418563:S49G;ENSP00000422011:S49G	ENSP00000322376:S49G	S	+	1	0	U2SURP	144213808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.088000	0.57678	2.285000	0.76669	0.533000	0.62120	AGC		0.388	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		G	142731118	A	G	142731118	3	3	175	1	0	0	0	0	1	0	0	0	15130	304	11	4	155	4	SR140	3	142731118	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	78832646	142731118	55291312	20	12398											
ZBBX	79740	broad.mit.edu	37	chr3	167034878	167034878	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaagagctgtgtgttgtActttggtctcctcacctagg	9	14	10	8	0	2	1	1	0	1	1	3	1	2	1	2	2	2	3	2	2	4	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:167034878A>T	ENST00000392766.2	-	14	1449	c.1109T>A	c.(1108-1110)gTa>gAa	p.V370E	ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000392767.2_Missense_Mutation_p.V370E|ZBBX_ENST00000455345.2_Missense_Mutation_p.V370E|ZBBX_ENST00000307529.5_Missense_Mutation_p.V370E|ZBBX_ENST00000392764.1_Missense_Mutation_p.V341E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	370						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGTGTTGTACTTTGGTCTC	0.328																																						uc011bpc.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1108-1110)gTa>gAa		Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.							166	152	156					3																	167034878		1848	4084	5932	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167034878A>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1109T>A	3.37:g.167034878A>T	ENSP00000376519:p.Val370Glu					ZBBX_uc003feq.3_Missense_Mutation_p.V341E|ZBBX_uc003fep.3_Missense_Mutation_p.V370E	p.V370E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN			13	1446	-			370					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1109T>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868122	0.32977	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10573	3.02;3.02;3.02;3.02;2.86	5.88	2.08	0.27032	.	0.956028	0.08669	N	0.911192	T	0.09686	0.0238	L	0.42245	1.32	0.09310	N	1	B;B	0.28850	0.225;0.144	B;B	0.27262	0.078;0.035	T	0.33879	-0.9851	10	0.62326	D	0.03	-2.9437	4.2382	0.10635	0.6789:0.0:0.1695:0.1516	.	370;370	A8MT70-2;A8MT70	.;ZBBX_HUMAN	E	370;370;370;370;341	ENSP00000376519:V370E;ENSP00000376520:V370E;ENSP00000390232:V370E;ENSP00000305065:V370E;ENSP00000376517:V341E	ENSP00000305065:V370E	V	-	2	0	ZBBX	168517572	0.000000	0.05858	0.795000	0.32087	0.118000	0.20060	0.492000	0.22435	1.060000	0.40578	0.533000	0.62120	GTA		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		T	167034878	A	T	167034878	3	4	175	1	0	0	0	0	1	0	0	0	17513	391	14	5	1325	5	ZBBX	3	167034878	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	24303760	167034878	30987552	21	12399											
TMEM44	93109	broad.mit.edu	37	chr3	194325157	194325157	+	Frame_Shift_Del	DEL	G	G	-																															tgcccgtcacctggcagcctGgtggcactgcagcctgcctg																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:194325157delG	ENST00000392432.2	-	10	1381	c.1176delC	c.(1174-1176)accfs	p.T392fs	TMEM44_ENST00000381975.3_Frame_Shift_Del_p.P344fs|TMEM44_ENST00000473092.1_Frame_Shift_Del_p.T345fs|TMEM44_ENST00000347147.4_Frame_Shift_Del_p.T345fs|TMEM44_ENST00000273580.7_Frame_Shift_Del_p.T345fs	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	392						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGGCAGCCTGGTGGCACTGC	0.597																																						uc010hzn.3																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8						c.(1174-1176)accfs		Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.							18	16	17					3																	194325157		2147	4195	6342	SO:0001589	frameshift_variant	93109					integral to membrane		g.chr3:194325157delG	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1176delC	3.37:g.194325157delG	ENSP00000376227:p.Thr392fs					TMEM44_uc010hzm.3_Frame_Shift_Del_p.P76fs|TMEM44_uc021xjc.1_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuc.3_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuf.3_Frame_Shift_Del_p.P344fs|TMEM44_uc003fue.3_Frame_Shift_Del_p.T345fs|TMEM44_uc011bsv.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_Non-coding_Transcript	p.T392fs	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	9	1382	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		392					A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Frame_Shift_Del	DEL	ENST00000392432.2	37	c.1176delC	CCDS54699.1																																																																																				0.597	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		-	194325157	G	-	194325157	7	5	175	1	0	1	0	1	0	0	0	0	16165	1348	47	0	293	0	TMEM44	3	194325157	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	27290279	194325157	3697273	22	12400											
KIAA0232	9778	broad.mit.edu	37	chr4	6865692	6865692	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacatcactggattccCaggaggaatcaactgggatt	12	9	10	10	0	3	1	3	0	0	1	4	5	4	5	1	4	1	0	1	4	2	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:6865692C>T	ENST00000307659.5	+	7	4038	c.3583C>T	c.(3583-3585)Cag>Tag	p.Q1195*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.Q1195*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1195							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACTGGATTCCCAGGAGGAATC	0.408																																						uc003gjr.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(3583-3585)Cag>Tag		Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.							54	52	53					4																	6865692		1814	4069	5883	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6865692C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3583C>T	4.37:g.6865692C>T	ENSP00000303928:p.Gln1195*					KIAA0232_uc003gjq.4_Nonsense_Mutation_p.Q1195*	p.Q1195*	NM_014743	NP_055558	Q92628	K0232_HUMAN			6	4046	+			1195					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.3583C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	46	12.856516	0.99701	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.4116	19.1974	0.93695	0.0:1.0:0.0:0.0	.	.	.	.	X	1195	.	ENSP00000303928:Q1195X	Q	+	1	0	KIAA0232	6916593	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.380000	0.79704	2.708000	0.92522	0.655000	0.94253	CAG		0.408	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		T	6865692	C	T	6865692	4	4	175	1	0	0	0	0	0	1	0	0	8163	595	21	3	3601	3	KIAA0232	4	6865692	Nonsense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		6865692	184288584	23	12401											
NAAA	27163	broad.mit.edu	37	chr4	76842123	76842123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctccattcaaaggatctaGaggccaaatgtctgctgggc	10	9	11	11	1	3	1	1	0	2	1	4	2	4	2	2	3	1	2	2	3	3	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:76842123G>C	ENST00000286733.4	-	6	921	c.820C>G	c.(820-822)Cta>Gta	p.L274V	NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000399497.3_Missense_Mutation_p.L274V|NAAA_ENST00000507956.1_Missense_Mutation_p.L274V|NAAA_ENST00000505594.1_Missense_Mutation_p.L173V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	274					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAAGGATCTAGAGGCCAAATG	0.433																																						uc003hjb.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(820-822)Cta>Gta		Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.							73	73	73					4																	76842123		1904	4107	6011	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76842123G>C	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.820C>G	4.37:g.76842123G>C	ENSP00000286733:p.Leu274Val					NAAA_uc003hja.3_Missense_Mutation_p.L274V|NAAA_uc003hjc.4_Missense_Mutation_p.L274V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Missense_Mutation_p.L173V	p.L274V	NM_014435	NP_055250	Q02083	NAAA_HUMAN			5	884	-			274					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.820C>G	CCDS43239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323967|4.323967	0.81580|0.81580	.|.	.|.	ENSG00000138744|ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594|ENST00000513045	T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84929|0.84929	0.5581|0.5581	M|M	0.90425|0.90425	3.115|3.115	0.53688|0.53688	D|D	0.999977|0.999977	D;D|.	0.65815|.	0.995;0.995|.	D;D|.	0.68353|.	0.942;0.957|.	D|D	0.86902|0.86902	0.2055|0.2055	10|5	0.40728|.	T|.	0.16|.	-10.6814|-10.6814	17.7344|17.7344	0.88388|0.88388	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;274|.	B4DVL2;Q02083|.	.;NAAA_HUMAN|.	V|C	274;274;274;173|78	ENSP00000382420:L274V;ENSP00000286733:L274V;ENSP00000427641:L274V;ENSP00000426977:L173V|.	ENSP00000286733:L274V|.	L|S	-|-	1|2	2|0	NAAA|NAAA	77061147|77061147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.129000|4.129000	0.57957|0.57957	2.797000|2.797000	0.96272|0.96272	0.561000|0.561000	0.74099|0.74099	CTA|TCT		0.433	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			C	76842123	G	C	76842123	3	2	175	1	0	0	0	0	1	0	0	0	10127	933	33	5	286	5	NAAA	4	76842123	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	69976431	76842123	114312153	24	12402											
PET112L	5188	broad.mit.edu	37	chr4	152592379	152592379	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcatgactggatctgctcGgctttgagtcgctttccgga	6	14	11	10	3	2	2	1	2	1	0	5	4	3	4	1	3	1	3	1	3	1	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:152592379G>A	ENST00000515812.1	-	12	1514	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	PET112_ENST00000507592.1_5'UTR|RP11-164P12.4_ENST00000508664.1_RNA|PET112_ENST00000263985.6_Nonsense_Mutation_p.R541*																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GGATCTGCTCGGCTTTGAGTC	0.453																																						uc003iml.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1621-1623)Cga>Tga		Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						162	153	156					4																	152592379		2203	4300	6503	SO:0001587	stop_gained	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152592379G>A																												ENST00000515812.1:c.1498C>T	4.37:g.152592379G>A	ENSP00000426859:p.Arg500*					PET112_uc003imk.3_Non-coding_Transcript	p.R541*	NM_004564	NP_004555	O75879	GATB_HUMAN			12	1662	-			541						Nonsense_Mutation	SNP	ENST00000515812.1	37	c.1621C>T		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154246	0.78114	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	.	.	.	5.8	4.93	0.64822	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	4.6239	13.9525	0.64126	0.0:0.0:0.8479:0.1521	.	.	.	.	X	541;500	.	ENSP00000263985:R541X	R	-	1	2	PET112	152811829	1.000000	0.71417	0.982000	0.44146	0.155000	0.21991	3.982000	0.56909	1.386000	0.46466	0.655000	0.94253	CGA		0.453	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			A	152592379	G	A	152592379	4	1	175	1	0	0	0	0	0	1	0	0	11734	1124	39	2	56	2	PET112L	4	152592379	Nonsense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	75750256	152592379	38561897	25	12403											
ETFDH	2110	broad.mit.edu	37	chr4	159603468	159603468	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgaaaaggacatccgTgtgtgtctagtggagaaagc	13	8	13	7	1	1	2	0	1	1	1	2	4	2	3	1	2	1	1	1	2	4	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:159603468T>C	ENST00000511912.1	+	3	629	c.297T>C	c.(295-297)cgT>cgC	p.R99R	ETFDH_ENST00000307738.5_Silent_p.R52R	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	99					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGACATCCGTGTGTGTCTAG	0.502																																						uc003iqb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(295-297)cgT>cgC		Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.							168	172	170					4																	159603468		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159603468T>C	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.297T>C	4.37:g.159603468T>C						ETFDH_uc011cjg.2_Silent_p.R52R|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Silent_p.R38R|ETFDH_uc010iqs.3_Silent_p.R38R	p.R99R	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	2	629	+	all_hematologic(180;0.24)	Renal(120;0.0458)	99					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.297T>C	CCDS3800.1																																																																																				0.502	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			C	159603468	T	C	159603468	2	2	175	1	0	0	0	0	0	0	0	1	5271	1683	59	4		4	ETFDH	4	159603468	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	7011089	159603468	31550808	26	12404											
PCDHGB1	56104	broad.mit.edu	37	chr5	140729895	140729896	+	Frame_Shift_Del	DEL	TC	TC	-																															tcccttcctgctgtctttgtTctgcggggccatctcccagc																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr5:140729895_140729896delTC	ENST00000523390.1	+	1	68_69	c.68_69delTC	c.(67-69)ttcfs	p.F23fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTTTGTTCTGCGGGGCCA	0.55											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljo.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(67-69)ttcfs		Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140729895_140729896delTC	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.68_69delTC	5.37:g.140729895_140729896delTC	ENSP00000429273:p.Phe23fs		OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Frame_Shift_Del_p.F23fs	p.F23fs	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	68_69	+			22					Q3SY75|Q9Y5C8	Frame_Shift_Del	DEL	ENST00000523390.1	37	c.68_69delTC	CCDS54923.1																																																																																				0.55	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		-	140729896	TC	-	140729895	7	5	175	1	0	1	0	1	0	0	0	0	11562	1783	62	0	70	0	PCDHGB1	5	140729895	Frame_Shift_Del	DEL	TC	TCGA-26-5133-01A-01D-1486-08		140729895	40185365	27	12405											
C6orf10	10665	broad.mit.edu	37	chr6	32260945	32260945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcatctctctcctttTctttatcattatttccttta	5	23	1	12	0	5	0	1	0	4	0	9	0	6	0	2	0	1	1	2	0	3	8			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32260945T>A	ENST00000447241.2	-	23	1677	c.1505A>T	c.(1504-1506)gAa>gTa	p.E502V	C6orf10_ENST00000375015.4_Missense_Mutation_p.E501V|C6orf10_ENST00000375007.4_Missense_Mutation_p.E500V|C6orf10_ENST00000533191.1_Missense_Mutation_p.E500V|C6orf10_ENST00000527965.1_Missense_Mutation_p.E486V|C6orf10_ENST00000442822.2_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	502	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						tctctccttttctttatcatt	0.363																																						uc021yvt.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1504-1506)gAa>gTa		Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.							116	122	120					6																	32260945		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32260945T>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1505A>T	6.37:g.32260945T>A	ENSP00000415517:p.Glu502Val					C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E419V|C6orf10_uc011dpz.2_Missense_Mutation_p.E500V|C6orf10_uc021yvu.1_Missense_Mutation_p.E500V|C6orf10_uc021yvv.1_Missense_Mutation_p.E486V	p.E502V	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			22	1678	-			502			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1505A>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749629	0.30955	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T	0.04654	3.59;3.6;3.59;3.59;3.58	1.89	0.453	0.16639	.	.	.	.	.	T	0.06234	0.0161	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.21075	-1.0256	9	0.72032	D	0.01	.	6.2731	0.20965	0.0:0.0:0.2873:0.7127	.	502	Q5SRN2	CF010_HUMAN	V	502;501;500;486;500;499;499	ENSP00000415517:E502V;ENSP00000364155:E501V;ENSP00000431199:E500V;ENSP00000435103:E486V;ENSP00000364146:E500V	ENSP00000303292:E499V	E	-	2	0	C6orf10	32368923	0.009000	0.17119	0.022000	0.16811	0.060000	0.15804	0.116000	0.15561	-0.066000	0.12998	0.454000	0.30748	GAA		0.363	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		A	32260945	T	A	32260945	3	1	175	1	0	0	0	0	1	0	0	0	2317	1783	62	5	190	5	C6orf10	6	32260945	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		32260945	138854122	28	12406											
HLA-DMB	3109	broad.mit.edu	37	chr6	32903319	32903319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgagtcactcactagagtGgccagctctccgccagctga	9	7	11	14	2	3	2	2	1	1	1	4	3	3	2	3	1	3	2	3	1	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32903319G>A	ENST00000418107.2	-	4	995	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	245					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCACTAGAGTGGCCAGCTCTC	0.537																																						uc003ocl.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(733-735)Cac>Tac		Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.							106	119	114					6																	32903319		1509	2709	4218	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32903319G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.733C>T	6.37:g.32903319G>A	ENSP00000398890:p.His245Tyr					HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.2_Intron|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	p.H245Y	NM_002118	NP_002109	P28068	DMB_HUMAN			3	996	-			245					O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.733C>T	CCDS4760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.444|7.444	0.641393|0.641393	0.14451|0.14451	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000446948;ENST00000418107|ENST00000414017	T|.	0.00986|.	5.47|.	4.81|4.81	-1.76|-1.76	0.08006|0.08006	.|.	1.580120|.	0.03701|.	N|.	0.248606|.	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.0;0.007|.	B;B|.	0.15484|.	0.0;0.013|.	T|T	0.40627|0.40627	-0.9553|-0.9553	10|5	0.54805|.	T|.	0.06|.	.|.	8.775|8.775	0.34756|0.34756	0.5287:0.0:0.4713:0.0|0.5287:0.0:0.4713:0.0	.|.	134;245|.	B0V062;P28068|.	.;DMB_HUMAN|.	Y|L	245|134	ENSP00000398890:H245Y|.	ENSP00000398890:H245Y|.	H|P	-|-	1|2	0|0	HLA-DMB|HLA-DMB	33011297|33011297	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.516000|0.516000	0.34256|0.34256	-0.708000|-0.708000	0.05035|0.05035	-0.354000|-0.354000	0.08212|0.08212	-0.522000|-0.522000	0.04353|0.04353	CAC|CCA		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		A	32903319	G	A	32903319	3	1	175	1	0	0	0	0	1	0	0	0	7199	1348	47	3	70	3	HLA-DMB	6	32903319	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	642374	32903319	138211748	29	12407											
GRM4	2914	broad.mit.edu	37	chr6	34004117	34004117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggccaggaagaggggCagcacggcccagggcgagcc	10	0	17	14	3	0	1	0	0	0	1	0	3	0	2	4	6	2	2	4	6	1	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:34004117C>T	ENST00000538487.2	-	9	2213	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	GRM4_ENST00000374181.4_Silent_p.L590L|GRM4_ENST00000374177.3_Silent_p.L474L|GRM4_ENST00000609222.1_Silent_p.L457L|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Silent_p.L457L|GRM4_ENST00000544773.2_Silent_p.L421L|GRM4_ENST00000455714.2_Silent_p.L450L	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	590					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGAAGAGGGGCAGCACGGCCC	0.647																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1768-1770)ctG>ctA		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						50	46	47					6																	34004117		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004117C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1770G>A	6.37:g.34004117C>T						GRM4_uc011dsn.2_Silent_p.L543L|GRM4_uc010jvh.3_Silent_p.L590L|GRM4_uc010jvi.3_Silent_p.L282L|GRM4_uc003oio.3_Silent_p.L282L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.L450L|GRM4_uc003oiq.3_Silent_p.L457L|GRM4_uc011dsm.2_Silent_p.L421L	p.L590L	NM_000841	NP_000832	Q14833	GRM4_HUMAN			7	2133	-			590					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1770G>A	CCDS4787.1																																																																																				0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			T	34004117	C	T	34004117	2	4	175	1	0	0	0	0	0	0	0	1	6799	697	25	3		3	GRM4	6	34004117	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	1100798	34004117	137110950	30	12408											
IKZF1	10320	broad.mit.edu	37	chr7	50450397	50450397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactggccacctgaggaCgcactccggtaggtcccctg	6	7	11	17	2	1	1	1	1	0	0	3	2	3	2	6	4	0	2	6	4	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:50450397C>T	ENST00000331340.3	+	5	736	c.581C>T	c.(580-582)aCg>aTg	p.T194M	IKZF1_ENST00000343574.5_Missense_Mutation_p.T107M|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.T194M|IKZF1_ENST00000438033.1_Missense_Mutation_p.T107M|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.T194M|IKZF1_ENST00000359197.5_Missense_Mutation_p.T194M|IKZF1_ENST00000440768.2_Missense_Mutation_p.T194M	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	194	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization. {ECO:0000250}.				B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCTGAGGACGCACTCCGGT	0.657			"D,T"	BCL6	"ALL, DLBCL"																																	uc003tow.4				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(580-582)aCg>aTg		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							19	23	22					7																	50450397		2118	4237	6355	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50450397C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.581C>T	7.37:g.50450397C>T	ENSP00000331614:p.Thr194Met					IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.T107M|IKZF1_uc022acu.1_Missense_Mutation_p.T107M|IKZF1_uc003tox.4_Missense_Mutation_p.T194M|IKZF1_uc022acv.1_Missense_Mutation_p.T107M|IKZF1_uc022acw.1_Missense_Mutation_p.T107M|IKZF1_uc022acx.1_Missense_Mutation_p.T194M|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.T107M|IKZF1_uc003toy.4_Missense_Mutation_p.T194M|IKZF1_uc003toz.4_Missense_Mutation_p.T164M|IKZF1_uc010kyx.3_Intron	p.T194M	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			4	736	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	194			Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.581C>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.652311	0.88056	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000440768;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T	0.42900	2.08;0.96;0.96;3.19;2.08;2.08;0.96	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.996	T	0.68131	-0.5490	9	0.56958	D	0.05	-14.4457	20.428	0.99075	0.0:1.0:0.0:0.0	.	107;194;194	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	M	107;194;194;194;194;107;194	ENSP00000342750:T107M;ENSP00000352123:T194M;ENSP00000401507:T194M;ENSP00000349928:T194M;ENSP00000331614:T194M;ENSP00000396554:T107M;ENSP00000413025:T194M	ENSP00000331614:T194M	T	+	2	0	IKZF1	50417891	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.815000	0.86186	2.837000	0.97791	0.655000	0.94253	ACG		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50450397	C	T	50450397	3	4	175	1	0	0	0	0	1	0	0	0	7614	536	19	1	595	1	IKZF1	7	50450397	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		50450397	108688266	31	12409											
TAF6	6878	broad.mit.edu	37	chr7	99711354	99711354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccccaccagaggcgaagcgGaaaggaatgaactcctgggc	12	3	13	13	2	0	2	0	1	0	1	1	5	1	4	4	4	2	0	4	4	4	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:99711354G>A	ENST00000344095.4	-	4	807	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Silent_p.F94F|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_Silent_p.F131F|TAF6_ENST00000453269.2_Silent_p.F94F|TAF6_ENST00000418432.2_Silent_p.F37F|TAF6_ENST00000472509.1_Silent_p.F151F	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	94					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGAAGCGGAAAGGAATGA	0.602																																						uc003uth.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(451-453)ttC>ttT		Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.							40	42	41					7																	99711354		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711354G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.282C>T	7.37:g.99711354G>A						TAF6_uc003utg.3_Silent_p.F35F|TAF6_uc003utm.3_Silent_p.F94F|TAF6_uc003uti.3_Silent_p.F94F|TAF6_uc003utk.3_Silent_p.F94F|TAF6_uc011kji.2_Silent_p.F131F	p.F151F	NM_139315	NP_647476	P49848	TAF6_HUMAN			2	590	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		94					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.453C>T	CCDS5686.1																																																																																				0.602	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		A	99711354	G	A	99711354	2	1	175	1	0	0	0	0	0	0	0	1	15527	1165	41	3		3	TAF6	7	99711354	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	49260957	99711354	59427309	32	12410											
PIK3CG	5294	broad.mit.edu	37	chr7	106509904	106509904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaatgcagctcctggactGcaacttctcagatgaaaatg	14	9	8	10	0	1	2	1	1	1	1	3	3	2	3	1	1	5	3	1	1	5	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:106509904G>A	ENST00000359195.3	+	2	2208	c.1898G>A	c.(1897-1899)tGc>tAc	p.C633Y	PIK3CG_ENST00000440650.2_Missense_Mutation_p.C633Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.C633Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	633	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCTGGACTGCAACTTCTCA	0.448																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1897-1899)tGc>tAc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							65	64	64					7																	106509904		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509904G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1898G>A	7.37:g.106509904G>A	ENSP00000352121:p.Cys633Tyr					PIK3CG_uc003vdu.3_Missense_Mutation_p.C633Y|PIK3CG_uc003vdw.3_Missense_Mutation_p.C633Y	p.C633Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	1983	+			633					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1898G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641415	0.47153	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.63913	-0.07;-0.07;-0.07	5.54	5.54	0.83059	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.081458	0.85682	D	0.000000	T	0.47266	0.1436	N	0.21617	0.685	0.80722	D	1	B	0.17852	0.024	B	0.13407	0.009	T	0.47535	-0.9110	10	0.02654	T	1	-22.6747	19.5024	0.95100	0.0:0.0:1.0:0.0	.	633	P48736	PK3CG_HUMAN	Y	633	ENSP00000392258:C633Y;ENSP00000419260:C633Y;ENSP00000352121:C633Y	ENSP00000352121:C633Y	C	+	2	0	PIK3CG	106297140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.496000	0.97967	2.607000	0.88179	0.655000	0.94253	TGC		0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106509904	G	A	106509904	3	1	175	1	0	0	0	0	1	0	0	0	11916	1319	46	3	1900	3	PIK3CG	7	106509904	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	6798550	106509904	52628759	33	12411											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24251623	24251623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgaaacattgtactcacCcagaggagaggaaattacca	16	7	8	10	0	1	3	1	1	0	2	1	5	1	4	2	2	3	1	2	2	4	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:24251623C>A	ENST00000256412.4	+	4	546	c.326C>A	c.(325-327)cCc>cAc	p.P109H	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P30H|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.P30H	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	109					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTACTCACCCAGAGGAGAG	0.463																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(325-327)cCc>cAc		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							76	72	74					8																	24251623		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24251623C>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.326C>A	8.37:g.24251623C>A	ENSP00000256412:p.Pro109His					ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	p.P109H	NM_014479	NP_001138744	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	3	546	+		Prostate(55;0.0181)	109					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.326C>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606745	0.46527	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.06142	3.34;3.34;3.34	5.46	5.46	0.80206	Peptidase M12B, propeptide (1);	0.308092	0.28527	N	0.015025	T	0.28300	0.0699	M	0.85462	2.755	0.29146	N	0.878724	D	0.76494	0.999	D	0.70016	0.967	T	0.08932	-1.0698	10	0.87932	D	0	-8.199	15.1532	0.72717	0.0:1.0:0.0:0.0	.	109	O15204	ADEC1_HUMAN	H	109;30;30	ENSP00000256412:P109H;ENSP00000442592:P30H;ENSP00000428993:P30H	ENSP00000256412:P109H	P	+	2	0	ADAMDEC1	24307568	0.001000	0.12720	0.687000	0.30102	0.076000	0.17211	1.172000	0.31908	2.706000	0.92434	0.563000	0.77884	CCC		0.463	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		A	24251623	C	A	24251623	3	1	175	1	0	0	0	0	1	0	0	0	254	623	22	5	340	5	ADAMDEC1	8	24251623	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		24251623	122112399	34	12412											
SNTB1	6641	broad.mit.edu	37	chr8	121644863	121644863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttaggatcaccgtgtgctTagcatctggagagtggattt	8	13	12	8	1	2	1	1	0	1	1	2	4	2	3	2	3	2	2	2	3	2	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:121644863T>C	ENST00000395601.3	-	4	1231	c.817A>G	c.(817-819)Aag>Gag	p.K273E	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.K273E	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	273	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACCGTGTGCTTAGCATCTGGA	0.527																																						uc010mdg.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(817-819)Aag>Gag		Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.							110	100	103					8																	121644863		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121644863T>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.817A>G	8.37:g.121644863T>C	ENSP00000378965:p.Lys273Glu					SNTB1_uc003ype.3_Missense_Mutation_p.K273E	p.K273E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1043	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		273			PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.817A>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609448	0.46527	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.55588	0.51;0.51	6.03	4.81	0.61882	Pleckstrin homology domain (2);	0.094778	0.64402	D	0.000001	T	0.45094	0.1325	L	0.59436	1.845	0.53005	D	0.999969	B;P	0.43287	0.024;0.802	B;B	0.40677	0.01;0.337	T	0.46610	-0.9179	10	0.05525	T	0.97	.	13.0341	0.58860	0.0:0.0:0.1341:0.8659	.	273;273	Q13884;Q13884-2	SNTB1_HUMAN;.	E	273	ENSP00000378965:K273E;ENSP00000431124:K273E	ENSP00000378965:K273E	K	-	1	0	SNTB1	121714044	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.357000	0.44125	2.313000	0.78055	0.454000	0.30748	AAG		0.527	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		C	121644863	T	C	121644863	3	2	175	1	0	0	0	0	1	0	0	0	14872	1763	61	4	819	4	SNTB1	8	121644863	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	97393240	121644863	24719159	35	12413											
SH2D3C	10044	broad.mit.edu	37	chr9	130507361	130507361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggggctgcaggggCggcatggacacgggttactg	8	5	20	8	2	0	1	0	0	0	1	0	2	0	2	0	8	2	5	0	8	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:130507361C>T	ENST00000314830.8	-	7	1395	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	SH2D3C_ENST00000373274.3_Missense_Mutation_p.A268T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A74T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A360T|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A271T|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A270T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	428					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTGCAGGGGCGGCATGGACA	0.627																																						uc004bsc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1282-1284)Gcc>Acc		Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.							17	22	20					9																	130507361		2172	4250	6422	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507361C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1282G>A	9.37:g.130507361C>T	ENSP00000317817:p.Ala428Thr					SH2D3C_uc010mxo.3_Missense_Mutation_p.A268T|SH2D3C_uc004bry.3_Missense_Mutation_p.A270T|SH2D3C_uc004brz.4_Missense_Mutation_p.A74T|SH2D3C_uc011mak.2_Missense_Mutation_p.A74T|SH2D3C_uc004bsb.3_Missense_Mutation_p.A360T|SH2D3C_uc004bsa.3_Missense_Mutation_p.A271T	p.A428T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			6	1424	-			428					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1282G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	2.383	-0.341737	0.05243	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	3.72	-4.06	0.03986	.	1.414110	0.04235	N	0.335926	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.002;0.001;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.11227	-1.0596	10	0.13470	T	0.59	-0.0691	3.8623	0.09001	0.1252:0.1921:0.1119:0.5709	.	268;428;360;271;270	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	T	271;270;360;268;74;428	ENSP00000362374:A271T;ENSP00000388536:A270T;ENSP00000362373:A360T;ENSP00000362371:A268T;ENSP00000394632:A74T;ENSP00000317817:A428T	ENSP00000317817:A428T	A	-	1	0	SH2D3C	129547182	0.000000	0.05858	0.002000	0.10522	0.630000	0.37929	-2.220000	0.01217	-1.018000	0.03363	-0.379000	0.06801	GCC		0.627	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		T	130507361	C	T	130507361	3	4	175	1	0	0	0	0	1	0	0	0	14234	768	27	1	1324	1	SH2D3C	9	130507361	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		130507361	10706070	36	12414											
GFI1B	8328	broad.mit.edu	37	chr9	135863634	135863634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggggactctccactgtccGactcacccccattctacaag	9	9	7	16	1	3	0	1	0	2	0	5	2	4	1	4	2	1	0	4	2	2	2	rs145562579	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:135863634G>A	ENST00000339463.3	+	8	1108	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GFI1B_ENST00000372122.1_Missense_Mutation_p.D97N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D97N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D97N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D97N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D97N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	97	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D97Y(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587													G|||	59	0.0117812	8e-04	0	5008	,	,		18729	0		0	False		,,,				2504	0.0593					uc004ccg.3																			2	Substitution - Missense(2)	p.D97Y(4)	lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(289-291)Gac>Aac		Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.		G	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	109	94	99		289,289	3.7	0.9	9	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	GFI1B	NM_001135031.1,NM_004188.4	23,23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	97/285,97/331	135863634	2,13004	2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863634G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.289G>A	9.37:g.135863634G>A	ENSP00000344782:p.Asp97Asn					GFI1B_uc010mzy.3_Missense_Mutation_p.D97N	p.D97N	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	3	644	+			97			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.289G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627217	0.46944	4.54E-4	0.0	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08634	3.2;3.07;3.07;3.2;3.2;3.07	4.6	3.69	0.42338	.	0.710545	0.13222	N	0.404314	T	0.04952	0.0133	N	0.16478	0.41	0.20926	N	0.999829	B;B	0.12013	0.005;0.001	B;B	0.04013	0.001;0.001	T	0.38178	-0.9673	10	0.18710	T	0.47	-26.2484	7.6508	0.28348	0.1146:0.0:0.8854:0.0	.	97;97	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	N	97	ENSP00000361197:D97N;ENSP00000344782:D97N;ENSP00000409546:D97N;ENSP00000446134:D97N;ENSP00000361196:D97N;ENSP00000361195:D97N	ENSP00000344782:D97N	D	+	1	0	GFI1B	134853455	0.967000	0.33354	0.884000	0.34674	0.953000	0.61014	2.544000	0.45761	2.075000	0.62263	0.563000	0.77884	GAC		0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		A	135863634	G	A	135863634	3	1	175	1	0	0	0	0	1	0	0	0	6340	1058	37	2	299	2	GFI1B	9	135863634	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	5356273	135863634	5349797	37	12415											
PCDH15	65217	broad.mit.edu	37	chr10	55591167	55591167	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggccccttctgtgtatccTagactttctcctctcttttt	5	18	5	13	0	3	1	0	0	3	1	6	1	4	1	4	1	0	1	4	1	3	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr10:55591167T>C	ENST00000320301.6	-	30	4504	c.4110A>G	c.(4108-4110)ctA>ctG	p.L1370L	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.L1299L|PCDH15_ENST00000395432.2_Silent_p.L1333L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.L981L|PCDH15_ENST00000414778.1_Silent_p.L1375L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.L1370L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1348L|PCDH15_ENST00000361849.3_Silent_p.L1370L|PCDH15_ENST00000373965.2_Silent_p.L1377L|PCDH15_ENST00000395438.1_Silent_p.L1370L|PCDH15_ENST00000395445.1_Silent_p.L1377L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1370					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTATCCTAGACTTTCTC	0.483										HNSCC(58;0.16)																												uc010qhy.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4123-4125)ctA>ctG		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							279	237	251					10																	55591167		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591167T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4110A>G	10.37:g.55591167T>C		HNSCC(58;0.16)				PCDH15_uc010qhq.2_Silent_p.L1375L|PCDH15_uc010qhr.2_Silent_p.L1370L|PCDH15_uc021pqv.1_Silent_p.L1370L|PCDH15_uc021pqw.1_Silent_p.L1382L|PCDH15_uc010qht.2_Silent_p.L1377L|PCDH15_uc021pqx.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L1370L|PCDH15_uc021pqz.1_Silent_p.L1348L|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc001jju.1_Silent_p.L1370L|PCDH15_uc010qib.1_Silent_p.L1348L	p.L1375L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN			30	4520	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1370					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4125A>G	CCDS7248.1																																																																																				0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		C	55591167	T	C	55591167	2	2	175	1	0	0	0	0	0	0	0	1	11511	1509	53	4		4	PCDH15	10	55591167	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08		55591167	79943580	38	12416											
PLA2G16	11145	broad.mit.edu	37	chr11	63381479	63381479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcacttacaatgggcGcacgcatcttccctcgcggt	6	8	10	17	5	1	0	0	0	1	0	3	0	2	0	3	2	1	3	3	2	2	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:63381479G>A	ENST00000323646.5	-	1	362	c.8C>T	c.(7-9)gCg>gTg	p.A3V	RP11-697H9.3_ENST00000542805.1_RNA|PLA2G16_ENST00000415826.1_Missense_Mutation_p.A3V|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	3					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACAATGGGCGCACGCATCTT	0.617																																						uc001nxh.2																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(7-9)gCg>gTg		Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.							56	60	59					11																	63381479		2201	4298	6499	SO:0001583	missense	11145				lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding	g.chr11:63381479G>A	X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.8C>T	11.37:g.63381479G>A	ENSP00000320337:p.Ala3Val					PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	p.A3V	NM_007069	NP_009000	P53816	PAG16_HUMAN			0	431	-			3					B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	ENST00000323646.5	37	c.8C>T	CCDS8047.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413424	0.25465	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.37752	1.18;1.18	3.52	1.64	0.23874	.	1.128850	0.06571	N	0.748546	T	0.22244	0.0536	N	0.16478	0.41	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.23511	-1.0186	10	0.36615	T	0.2	0.014	5.659	0.17658	0.2491:0.0:0.7509:0.0	.	3	P53816	PAG16_HUMAN	V	3	ENSP00000320337:A3V;ENSP00000389124:A3V	ENSP00000320337:A3V	A	-	2	0	PLA2G16	63138055	0.033000	0.19621	0.002000	0.10522	0.098000	0.18820	3.378000	0.52432	0.493000	0.27837	0.591000	0.81541	GCG		0.617	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203		A	63381479	G	A	63381479	3	1	175	1	0	0	0	0	1	0	0	0	11993	1087	38	1	496	1	PLA2G16	11	63381479	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08		63381479	71625037	39	12417											
ANO6	196527	broad.mit.edu	37	chr12	45823037	45823037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacgaaaaatatgggggtGatagctgagcggatgataga	15	8	15	3	2	0	5	0	4	0	1	0	7	0	6	0	3	2	1	0	3	5	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:45823037G>A	ENST00000320560.8	+	20	2878	c.2676G>A	c.(2674-2676)gtG>gtA	p.V892V	ANO6_ENST00000423947.3_Silent_p.V913V|ANO6_ENST00000435642.1_Intron|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000441606.2_Silent_p.V874V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	892					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATGGGGGTGATAGCTGAGC	0.373																																						uc010slf.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2737-2739)gtG>gtA		Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.							52	50	51					12																	45823037		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45823037G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2676G>A	12.37:g.45823037G>A						ANO6_uc001roo.3_Silent_p.V892V|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.2_Silent_p.V874V	p.V913V	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN			20	3074	+			892					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2739G>A	CCDS31782.1																																																																																				0.373	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		A	45823037	G	A	45823037	2	1	175	1	0	0	0	0	0	0	0	1	701	1277	45	3		3	ANO6	12	45823037	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08		45823037	88028858	40	12418											
STAT6	6778	broad.mit.edu	37	chr12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactggctggctcaggCagctgtcttccaccatggtc	5	11	11	14	0	3	0	2	0	1	0	5	0	4	0	2	4	1	4	2	4	0	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:57490672C>T	ENST00000300134.3	-	21	2640	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y|STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	772					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642																																						uc009zpg.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2461-2463)tGc>tAc		Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.							50	47	48					12																	57490672		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490672C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2315G>A	12.37:g.57490672C>T	ENSP00000300134:p.Cys772Tyr					STAT6_uc009zpe.3_Missense_Mutation_p.C772Y|STAT6_uc001sna.3_Missense_Mutation_p.C772Y|STAT6_uc009zpf.3_Missense_Mutation_p.C772Y|STAT6_uc010srb.2_Missense_Mutation_p.C662Y|STAT6_uc010src.2_Missense_Mutation_p.C662Y|STAT6_uc010srd.2_Missense_Mutation_p.C662Y	p.C821Y	NM_001178081	NP_001171552	P42226	STAT6_HUMAN			20	2464	-			772					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2462G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949601	0.53186	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.92397	-2.79;-3.03;-2.79;-2.79;-3.03;-2.79	4.87	4.87	0.63330	.	0.475564	0.20115	N	0.098921	D	0.87087	0.6090	N	0.24115	0.695	0.34682	D	0.724782	P;P	0.42785	0.79;0.79	B;B	0.41723	0.365;0.365	D	0.91590	0.5286	10	0.72032	D	0.01	-8.3535	13.3934	0.60836	0.0:1.0:0.0:0.0	.	772;772	A8K4S9;P42226	.;STAT6_HUMAN	Y	772;662;662;772;772;662;772;662	ENSP00000300134:C772Y;ENSP00000445409:C662Y;ENSP00000438451:C772Y;ENSP00000451742:C772Y;ENSP00000444530:C662Y;ENSP00000401486:C772Y	ENSP00000300134:C772Y	C	-	2	0	STAT6	55776939	0.911000	0.30947	1.000000	0.80357	0.965000	0.64279	1.974000	0.40559	2.537000	0.85549	0.561000	0.74099	TGC		0.642	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		T	57490672	C	T	57490672	3	4	175	1	0	0	0	0	1	0	0	0	15269	710	25	3	236	3	STAT6	12	57490672	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	11667635	57490672	76361223	41	12419											
OSBPL8	114882	broad.mit.edu	37	chr12	76791554	76791554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgatggacgttcaatgaTttcacaggcattcagaagaa	13	13	9	6	1	3	4	3	2	0	2	3	5	3	5	0	2	0	2	0	2	3	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:76791554T>C	ENST00000261183.3	-	8	1071	c.592A>G	c.(592-594)Atc>Gtc	p.I198V	OSBPL8_ENST00000393250.4_Missense_Mutation_p.I156V|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I156V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	198	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CGTTCAATGATTTCACAGGCA	0.408																																						uc001sye.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(592-594)Atc>Gtc		Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.							127	109	115					12																	76791554		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76791554T>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.592A>G	12.37:g.76791554T>C	ENSP00000261183:p.Ile198Val					OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	p.I198V	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN			7	1072	-			198			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.592A>G	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728279	0.30593	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.74632	-0.86;3.3;-0.86;3.3;-0.86	5.64	4.54	0.55810	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.248699	0.41938	D	0.000785	T	0.51873	0.1700	N	0.11560	0.145	0.48975	D	0.999738	B;B	0.02656	0.0;0.0	B;B	0.13407	0.005;0.009	T	0.48269	-0.9050	10	0.09084	T	0.74	-9.2191	11.7259	0.51710	0.0:0.0:0.2391:0.7609	.	173;198	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	V	156;198;183;156;198;198;173	ENSP00000376939:I156V;ENSP00000261183:I198V;ENSP00000376940:I156V;ENSP00000450238:I198V;ENSP00000447893:I173V	ENSP00000261183:I198V	I	-	1	0	OSBPL8	75315685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.962000	0.70364	2.152000	0.67230	0.528000	0.53228	ATC		0.408	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		C	76791554	T	C	76791554	3	2	175	1	0	0	0	0	1	0	0	0	11283	1493	52	4	2145	4	OSBPL8	12	76791554	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	19300882	76791554	57060341	42	12420											
EP400	57634	broad.mit.edu	37	chr12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcctccggtggtgtccGtcccggcagctgtggtctcc	3	9	14	15	4	1	0	0	0	1	0	5	1	4	0	5	4	2	2	5	4	1	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:132551418G>A	ENST00000333577.4	+	50	8870	c.8761G>A	c.(8761-8763)Gtc>Atc	p.V2921I	EP400_ENST00000330386.6_Missense_Mutation_p.V2804I|EP400_ENST00000389561.2_Missense_Mutation_p.V2885I|EP400_ENST00000389562.2_Missense_Mutation_p.V2884I|EP400_ENST00000332482.4_Missense_Mutation_p.V2848I			Q96L91	EP400_HUMAN	E1A binding protein p400	2921					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V2884I(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTGGTGTCCGTCCCGGCAGC	0.682																																						uc001ujn.3																			1	Substitution - Missense(1)	p.V2884I(2)|p.P2885P(1)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8653-8655)Gtc>Atc		Homo sapiens E1A binding protein p400 (EP400), mRNA.							36	38	37					12																	132551418		2203	4299	6502	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132551418G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8761G>A	12.37:g.132551418G>A	ENSP00000333602:p.Val2921Ile					EP400_uc021rgq.1_Missense_Mutation_p.V2884I|EP400_uc001ujm.3_Missense_Mutation_p.V2804I|EP400_uc001ujp.3_Missense_Mutation_p.V95I	p.V2885I	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8805	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2921					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.8653G>A		.	.	.	.	.	.	.	.	.	.	G	14.77	2.633162	0.47049	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.92199	-2.99;-2.99;-2.92;-2.97;-2.96	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.32530	0.975	0.39049	D	0.960288	D;D;D;D	0.76494	0.987;0.999;0.999;0.999	P;D;D;D	0.78314	0.897;0.991;0.991;0.991	D	0.92891	0.6331	10	0.33141	T	0.24	.	16.1317	0.81445	0.0:0.0:1.0:0.0	.	2921;2885;2804;2884	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	I	2921;2885;2884;2848;2804;2885	ENSP00000333602:V2921I;ENSP00000374212:V2885I;ENSP00000374213:V2884I;ENSP00000331737:V2848I;ENSP00000330620:V2804I	ENSP00000330620:V2804I	V	+	1	0	EP400	131117371	1.000000	0.71417	0.656000	0.29637	0.119000	0.20118	6.023000	0.70848	2.244000	0.73946	0.561000	0.74099	GTC		0.682	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132551418	G	A	132551418	3	1	175	1	0	0	0	0	1	0	0	0	5149	1145	40	1	8840	1	EP400	12	132551418	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	55759864	132551418	1300477	43	12421											
LMO7	4008	broad.mit.edu	37	chr13	76287343	76287343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagagaagaattttgaaaCaaaagattttcgagcctctc	17	10	7	7	1	1	4	0	1	1	3	3	6	1	4	1	0	3	0	1	0	6	4	rs75385907		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr13:76287343C>A	ENST00000341547.4	+	3	1511	c.251C>A	c.(250-252)aCa>aAa	p.T84K	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.T84K|LMO7_ENST00000377534.3_Missense_Mutation_p.T84K	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	84	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTTTGAAACAAAAGATTTT	0.318																																						uc021rkq.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(94-96)aCa>aAa		Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.							49	53	51					13																	76287343		2202	4300	6502	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76287343C>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.251C>A	13.37:g.76287343C>A	ENSP00000342112:p.Thr84Lys					LMO7_uc010thv.2_Missense_Mutation_p.T84K|LMO7_uc001vjt.1_Missense_Mutation_p.T32K	p.T32K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	1	430	+		Breast(118;0.0992)	84					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.95C>A	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704618	0.68615	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.59	3.73	0.42828	.	1.313350	0.05340	N	0.529904	D	0.89497	0.6732	N	0.11870	0.19	0.28065	N	0.932812	P;P	0.44627	0.839;0.705	B;B	0.41510	0.322;0.359	T	0.83259	-0.0049	10	0.62326	D	0.03	.	9.5196	0.39126	0.159:0.6868:0.1542:0.0	.	84;32	Q8WWI1-3;F8J2B5	.;.	K	84;84;84;32	ENSP00000342112:T84K;ENSP00000349571:T84K;ENSP00000366757:T84K;ENSP00000366719:T32K	ENSP00000342112:T84K	T	+	2	0	LMO7	75185344	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	1.540000	0.36115	1.458000	0.47871	0.561000	0.74099	ACA		0.318	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		A	76287343	C	A	76287343	3	1	175	1	0	0	0	0	1	0	0	0	8855	478	17	5	261	5	LMO7	13	76287343	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		76287343	38882535	44	12422											
OR11G2	390439	broad.mit.edu	37	chr14	20666093	20666093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttgattcctatcgtcaAcatctcccaaatgtccttct	8	16	4	13	1	4	1	1	1	3	0	8	1	6	1	3	0	1	1	3	0	3	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:20666093A>G	ENST00000357366.3	+	1	599	c.599A>G	c.(598-600)aAc>aGc	p.N200S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTATCGTCAACATCTCCCAA	0.448																																						uc010tlb.2																			0		p.V199I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(598-600)aAc>aGc		Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.							118	101	107					14																	20666093		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666093A>G		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.599A>G	14.37:g.20666093A>G	ENSP00000349930:p.Asn200Ser						p.N200S	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	599	+	all_cancers(95;0.00108)		200					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.599A>G	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	a	4.982	0.182422	0.09495	.	.	ENSG00000196832	ENST00000357366	T	0.00169	8.63	4.93	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	1.150220	0.06639	N	0.760732	T	0.00109	0.0003	N	0.03224	-0.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35674	-0.9779	10	0.49607	T	0.09	.	10.3921	0.44179	0.1469:0.0:0.0:0.853	.	200	Q8NGC1	O11G2_HUMAN	S	200	ENSP00000349930:N200S	ENSP00000349930:N200S	N	+	2	0	OR11G2	19735933	0.000000	0.05858	0.141000	0.22245	0.063000	0.16089	0.215000	0.17562	0.905000	0.36596	-0.277000	0.10078	AAC		0.448	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			G	20666093	A	G	20666093	3	3	175	1	0	0	0	0	1	0	0	0	10925	43	2	4	601	4	OR11G2	14	20666093	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08		20666093	86683447	45	12423											
AKAP5	9495	broad.mit.edu	37	chr14	64936331	64936331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaatgctattcagttgTcaatagaacagctggttaat	14	13	8	6	0	3	2	3	0	0	2	3	2	3	2	0	1	3	4	0	1	7	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:64936331T>C	ENST00000394718.4	+	2	1597	c.1219T>C	c.(1219-1221)Tca>Cca	p.S407P	AKAP5_ENST00000320636.5_Missense_Mutation_p.S407P|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	407				S -> Y (in Ref. 6; no nucleotide entry). {ECO:0000305}.	energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TATTCAGTTGTCAATAGAACA	0.348																																						uc021ruk.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1219-1221)Tca>Cca		Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.							86	94	91					14																	64936331		2203	4298	6501	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936331T>C	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1219T>C	14.37:g.64936331T>C	ENSP00000378207:p.Ser407Pro					ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Missense_Mutation_p.S407P	p.S407P	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	0	1219	+			407	S -> Y (in Ref. 3).				A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1219T>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821788	0.71028	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.49432	0.78;0.78	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000073	T	0.57301	0.2044	L	0.29908	0.895	0.34309	D	0.685288	D	0.89917	1.0	D	0.87578	0.998	T	0.69803	-0.5046	10	0.87932	D	0	-21.5174	14.1604	0.65443	0.0:0.0:0.0:1.0	.	407	P24588	AKAP5_HUMAN	P	407	ENSP00000378207:S407P;ENSP00000315615:S407P	ENSP00000315615:S407P	S	+	1	0	AKAP5	64006084	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.755000	0.62198	2.217000	0.71921	0.482000	0.46254	TCA		0.348	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			C	64936331	T	C	64936331	3	2	175	1	0	0	0	0	1	0	0	0	454	1667	58	4	1221	4	AKAP5	14	64936331	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	44270238	64936331	42413209	46	12424											
HEATR4	399671	broad.mit.edu	37	chr14	73989140	73989140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgactccagtcgtactgCtggcgcaggaagctctgcca	8	9	12	12	2	1	1	0	1	1	0	3	2	2	2	2	2	4	4	2	2	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:73989140C>A	ENST00000553558.1	-	3	1038	c.717G>T	c.(715-717)caG>caT	p.Q239H	RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.Q239H|HEATR4_ENST00000560393.1_Missense_Mutation_p.Q192H|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	239										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTCGTACTGCTGGCGCAGGA	0.582																																						uc021rwe.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(715-717)caG>caT		Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.							72	70	71					14																	73989140		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73989140C>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.717G>T	14.37:g.73989140C>A	ENSP00000450444:p.Gln239His					HEATR4_uc021rwf.1_Missense_Mutation_p.Q192H|HEATR4_uc010tub.1_Missense_Mutation_p.Q239H	p.Q239H	NM_001220484	NP_001207413				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	2	1065	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.717G>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007337	0.19199	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.45668	0.89	5.93	1.48	0.22813	.	0.415295	0.23487	N	0.047658	T	0.20333	0.0489	N	0.14661	0.345	0.30415	N	0.778705	B	0.15141	0.012	B	0.11329	0.006	T	0.09100	-1.0690	10	0.28530	T	0.3	-7.2805	4.517	0.11939	0.2812:0.514:0.1246:0.0801	.	239	Q86WZ0	HEAT4_HUMAN	H	239;192	ENSP00000450444:Q239H	ENSP00000335447:Q192H	Q	-	3	2	HEATR4	73058893	0.962000	0.33011	0.996000	0.52242	0.583000	0.36354	-0.245000	0.08890	0.368000	0.24481	0.561000	0.74099	CAG		0.582	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		A	73989140	C	A	73989140	3	1	175	1	0	0	0	0	1	0	0	0	7030	796	28	5	2427	5	HEATR4	14	73989140	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	9052809	73989140	33360400	47	12425											
LTBP2	4053	broad.mit.edu	37	chr14	74974771	74974771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgccctcccacacacGggtctgtggtggcacactcg	7	7	11	16	2	1	0	0	0	1	0	3	0	2	0	2	3	1	1	2	3	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:74974771G>A	ENST00000261978.4	-	25	4066	c.3680C>T	c.(3679-3681)cCg>cTg	p.P1227L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1227L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1227	Cys-rich.|EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCACACACGGGTCTGTGGT	0.582																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3679-3681)cCg>cTg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							64	54	57					14																	74974771		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74974771G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3680C>T	14.37:g.74974771G>A	ENSP00000261978:p.Pro1227Leu						p.P1227L	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	24	4067	-			1227			Cys-rich.|EGF-like 13; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3680C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	1.976	-0.435403	0.04669	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91894	-2.93;-2.4	5.41	-5.99	0.02213	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	1.131700	0.07041	N	0.830049	T	0.78830	0.4345	L	0.41824	1.3	0.25350	N	0.988879	P	0.47545	0.897	B	0.35073	0.195	T	0.74777	-0.3550	10	0.07813	T	0.8	.	0.4198	0.00454	0.2873:0.1763:0.2951:0.2413	.	1227	Q14767	LTBP2_HUMAN	L	1227	ENSP00000261978:P1227L;ENSP00000451477:P1227L	ENSP00000261978:P1227L	P	-	2	0	LTBP2	74044524	0.041000	0.20044	0.048000	0.18961	0.036000	0.12997	-0.367000	0.07553	-1.501000	0.01817	-1.243000	0.01532	CCG		0.582	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	74974771	G	A	74974771	3	1	175	1	0	0	0	0	1	0	0	0	9074	1116	39	2	1833	2	LTBP2	14	74974771	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	985631	74974771	32374769	48	12426											
ATP8B4	79895	broad.mit.edu	37	chr15	50190419	50190419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaagttctaggagatcAttcttgacatcactttctag	12	13	7	9	0	5	2	2	1	3	1	5	3	5	2	0	1	1	2	0	1	4	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:50190419A>T	ENST00000284509.6	-	22	2460	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N773K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	773						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTAGGAGATCATTCTTGACAT	0.398																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2317-2319)aaT>aaA		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							113	102	106					15																	50190419		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50190419A>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2319T>A	15.37:g.50190419A>T	ENSP00000284509:p.Asn773Lys					ATP8B4_uc010ber.3_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.2_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	p.N773K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	21	2461	-		all_lung(180;0.00183)	773					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2319T>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	6.312	0.425685	0.11987	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.92	-6.68	0.01778	HAD-like domain (1);	0.672387	0.15355	N	0.266707	T	0.34832	0.0911	N	0.02665	-0.54	0.22737	N	0.998798	B	0.02656	0.0	B	0.06405	0.002	T	0.52185	-0.8609	10	0.02654	T	1	.	0.4249	0.00462	0.2107:0.2114:0.268:0.3099	.	773	Q8TF62	AT8B4_HUMAN	K	773	ENSP00000284509:N773K	ENSP00000284509:N773K	N	-	3	2	ATP8B4	47977711	0.000000	0.05858	0.816000	0.32577	0.851000	0.48451	-1.323000	0.02692	-1.123000	0.02940	0.533000	0.62120	AAT		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50190419	A	T	50190419	3	4	175	1	0	0	0	0	1	0	0	0	1197	214	8	5	1287	5	ATP8B4	15	50190419	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08		50190419	52340973	49	12427											
C15orf60	283677	broad.mit.edu	37	chr15	73832877	73832877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaagattgtaagacgcGtggattgtctgttgtttgga	8	15	15	3	2	1	3	0	1	1	2	1	5	1	5	0	3	0	4	0	3	2	6	rs182542888	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:73832877G>A	ENST00000331090.6	+	3	329	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	C15orf60_ENST00000560581.1_Intron	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		101					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGTAAGACGCGTGGATTGTCT	0.383																																						uc002avq.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						c.(301-303)Gtg>Atg		Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.							327	306	312					15																	73832877		1903	4103	6006	SO:0001583	missense	283677							g.chr15:73832877G>A																												ENST00000331090.6:c.301G>A	15.37:g.73832877G>A	ENSP00000328423:p.Val101Met					C15orf60_uc010bjb.3_Intron	p.V101M	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			2	329	+			101						Missense_Mutation	SNP	ENST00000331090.6	37	c.301G>A	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103613	0.06967	.	.	ENSG00000183324	ENST00000331090	T	0.41065	1.01	4.97	-6.78	0.01721	.	0.725050	0.13902	N	0.354836	T	0.15262	0.0368	N	0.01410	-0.885	0.43021	D	0.994571	B	0.10296	0.003	B	0.09377	0.004	T	0.12142	-1.0559	10	0.35671	T	0.21	5.1413	17.276	0.87115	0.2846:0.0:0.7154:0.0	.	101	Q7Z4M0	CO060_HUMAN	M	101	ENSP00000328423:V101M	ENSP00000328423:V101M	V	+	1	0	C15orf60	71619930	0.000000	0.05858	0.740000	0.30986	0.493000	0.33554	-1.076000	0.03420	-1.580000	0.01644	-2.010000	0.00438	GTG		0.383	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			A	73832877	G	A	73832877	3	1	175	1	0	0	0	0	1	0	0	0	1808	1145	40	1	311	1	C15orf60	15	73832877	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	23642458	73832877	28698515	50	12428											
KIAA1199	57214	broad.mit.edu	37	chr15	81213426	81213426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaacctcatcaactgtgCcgctgcaggatctgaggtga	11	8	10	12	1	3	2	2	2	1	0	3	3	3	3	2	2	5	2	2	2	3	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:81213426C>T	ENST00000394685.3	+	16	2476	c.2057C>T	c.(2056-2058)gCc>gTc	p.A686V	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A686V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A686V			Q8WUJ3	CEMIP_HUMAN		686					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.A686V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAACTGTGCCGCTGCAGGA	0.547																																						uc002bfw.1																			1	Substitution - Missense(1)	p.A686V(2)	kidney(1)	breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2056-2058)gCc>gTc		Homo sapiens KIAA1199 (KIAA1199), mRNA.							114	84	95					15																	81213426		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81213426C>T																												ENST00000394685.3:c.2057C>T	15.37:g.81213426C>T	ENSP00000378177:p.Ala686Val					KIAA1199_uc010unn.1_Missense_Mutation_p.A686V	p.A686V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			14	2317	+			686					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2057C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115668	0.37339	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.54071	0.59;0.59;0.59	4.45	4.45	0.53987	Pectin lyase fold/virulence factor (1);	0.201603	0.41294	D	0.000909	T	0.43366	0.1244	L	0.31207	0.915	0.44789	D	0.997796	P	0.40050	0.7	B	0.40199	0.322	T	0.27640	-1.0068	10	0.20046	T	0.44	-10.3787	17.6395	0.88131	0.0:1.0:0.0:0.0	.	686	Q8WUJ3	K1199_HUMAN	V	686	ENSP00000220244:A686V;ENSP00000378177:A686V;ENSP00000348583:A686V	ENSP00000220244:A686V	A	+	2	0	KIAA1199	79000481	1.000000	0.71417	0.016000	0.15963	0.005000	0.04900	7.186000	0.77722	2.450000	0.82876	0.655000	0.94253	GCC		0.547	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81213426	C	T	81213426	3	4	175	1	0	0	0	0	1	0	0	0	8213	739	26	3	2111	3	KIAA1199	15	81213426	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	7380549	81213426	21317966	51	12429											
RHBDL1	9028	broad.mit.edu	37	chr16	727863	727863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcccagcttcatggcGcacctggcaggcgcggtggt	6	6	14	15	3	1	0	1	0	0	0	1	0	1	0	3	5	2	3	3	5	0	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:727863G>A	ENST00000219551.2	+	7	1155	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	STUB1_ENST00000219548.4_5'Flank|RHBDL1_ENST00000352681.3_Silent_p.A311A|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	376					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTTCATGGCGCACCTGGCAG	0.736																																						uc002cis.1																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(1126-1128)gcG>gcA		Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.							13	15	15					16																	727863		2166	4279	6445	SO:0001819	synonymous_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:727863G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.1128G>A	16.37:g.727863G>A						RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	p.A376A	NM_003961	NP_003952	O75783	RHBL1_HUMAN			6	1155	+		Hepatocellular(780;0.0218)	376					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.1128G>A	CCDS10418.1																																																																																				0.736	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		A	727863	G	A	727863	2	1	175	1	0	0	0	0	0	0	0	1	13321	1074	38	1		1	RHBDL1	16	727863	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08		727863	89626890	52	12430											
KIAA0430	9665	broad.mit.edu	37	chr16	15690712	15690712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgctgagatgcaggaCgagctggagtcagaggtcag	11	6	16	8	1	2	2	2	1	0	2	2	6	2	4	0	3	4	4	0	3	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:15690712C>T	ENST00000396368.3	-	27	5273	c.5067G>A	c.(5065-5067)tcG>tcA	p.S1689S	KIAA0430_ENST00000540441.2_Silent_p.S1524S|KIAA0430_ENST00000602337.1_Silent_p.S1686S|KIAA0430_ENST00000344181.3_Silent_p.S1377S|KIAA0430_ENST00000548025.1_Silent_p.S1686S|KIAA0430_ENST00000551742.1_Silent_p.S1689S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1689	Poly-Ser.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGATGCAGGACGAGCTGGAGT	0.507																																						uc002ddr.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(5065-5067)tcG>tcA		Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.							51	53	53					16																	15690712		2050	4221	6271	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15690712C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5067G>A	16.37:g.15690712C>T						KIAA0430_uc002ddq.3_Silent_p.S1523S|KIAA0430_uc010uzv.2_Silent_p.S1686S|KIAA0430_uc010uzw.2_Silent_p.S1689S	p.S1689S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			26	5274	-			1688			Poly-Ser.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.5067G>A	CCDS10562.2																																																																																				0.507	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		T	15690712	C	T	15690712	2	4	175	1	0	0	0	0	0	0	0	1	8177	523	19	1		1	KIAA0430	16	15690712	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	14962849	15690712	74664041	53	12431											
ITGAX	3687	broad.mit.edu	37	chr16	31388543	31388543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaagaccaccttccagCtggagctcccggtgaagtat	10	7	10	14	1	0	2	0	1	0	1	2	3	2	3	5	2	3	4	5	2	3	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:31388543C>A	ENST00000268296.4	+	23	2867	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M	ITGAX_ENST00000562522.1_Missense_Mutation_p.L916M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	916					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCTTCCAGCTGGAGCTCCC	0.537																																						uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2746-2748)Ctg>Atg		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							110	113	112					16																	31388543		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388543C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2746C>A	16.37:g.31388543C>A	ENSP00000268296:p.Leu916Met					ITGAX_uc002ebu.1_Missense_Mutation_p.L916M	p.L916M	NM_000887	NP_000878	P20702	ITAX_HUMAN			22	2813	+			916					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2746C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990197	0.18966	.	.	ENSG00000140678	ENST00000268296	T	0.55930	0.49	4.37	-3.4	0.04853	Integrin alpha-2 (1);	.	.	.	.	T	0.64483	0.2602	M	0.81112	2.525	0.09310	N	0.999997	D;P	0.89917	1.0;0.842	D;P	0.87578	0.998;0.761	T	0.55464	-0.8137	9	0.59425	D	0.04	.	2.0026	0.03471	0.5045:0.2012:0.1243:0.17	.	916;101	P20702;Q8TES5	ITAX_HUMAN;.	M	916	ENSP00000268296:L916M	ENSP00000268296:L916M	L	+	1	2	ITGAX	31296044	0.005000	0.15991	0.340000	0.25575	0.057000	0.15508	-0.301000	0.08232	-0.713000	0.04981	-0.810000	0.03169	CTG		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31388543	C	A	31388543	3	1	175	1	0	0	0	0	1	0	0	0	7889	796	28	5	2836	5	ITGAX	16	31388543	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	15697831	31388543	58966210	54	12432											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5	rs587780073		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM035576	TP53	M		c.(700-702)tAc>tGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							119	95	103					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.Y234C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577580	T	C	7577580	3	2	175	1	0	0	0	0	1	0	0	0	16378	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		7577580	73617630	55	12433											
NF1	4763	broad.mit.edu	37	chr17	29667528	29667528	+	Frame_Shift_Del	DEL	G	G	-																															tatcttctttgccaggactcGcctctgcacaaagccctctt																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:29667528delG	ENST00000358273.4	+	47	7310	c.6927delG	c.(6925-6927)tcgfs	p.S2309fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2309					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCAGGACTCGCCTCTGCACA	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(1)|Insertion - Frameshift(1)	p.0?(8)|p.?(3)|p.S2309S(2)|p.D2308fs*11(1)|p.P2310fs*11(1)	soft_tissue(7)|autonomic_ganglia(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6925-6927)tcgfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							114	107	110					17																	29667528		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667528delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6927delG	17.37:g.29667528delG	ENSP00000351015:p.Ser2309fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.3_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	p.S2309fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	46	7310	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2309					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6927delG	CCDS42292.1																																																																																				0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29667528	G	-	29667528	7	5	175	1	0	1	0	1	0	0	0	0	10356	1074	38	0	7174	0	NF1	17	29667528	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	22089948	29667528	51527682	56	12434											
KRT31	3881	broad.mit.edu	37	chr17	39551111	39551111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtactcacttgcagtcctcGctctccagcaggctccggta	6	11	9	15	2	2	0	1	0	1	0	6	0	4	0	3	2	3	6	3	2	2	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:39551111G>A	ENST00000251645.2	-	6	1138	c.1086C>T	c.(1084-1086)agC>agT	p.S362S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	362	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGTCCTCGCTCTCCAGCA	0.532																																						uc002hwn.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1084-1086)agC>agT		Homo sapiens keratin 31 (KRT31), mRNA.							121	116	118					17																	39551111		2203	4300	6503	SO:0001819	synonymous_variant	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551111G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1086C>T	17.37:g.39551111G>A						KRT31_uc010cxn.3_Silent_p.S362S	p.S362S	NM_002277	NP_002268	Q15323	K1H1_HUMAN			5	1139	-		Breast(137;0.000496)	362			Coil 2.|Rod.		Q9UE12	Silent	SNP	ENST00000251645.2	37	c.1086C>T	CCDS11391.1																																																																																				0.532	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		A	39551111	G	A	39551111	2	1	175	1	0	0	0	0	0	0	0	1	8467	1078	38	1		1	KRT31	17	39551111	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	9883583	39551111	41644099	57	12435											
MMD	23531	broad.mit.edu	37	chr17	53471726	53471726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataaagtccgtaggacttCggtaaaggtatttccaaatg	13	11	10	7	2	0	0	0	0	0	0	3	1	2	1	2	3	0	4	2	3	7	6	rs556969177		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:53471726C>T	ENST00000262065.3	-	7	982	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	229					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463													C|||	1	0.000199681	0	0	5008	,	,		17152	0.001		0	False		,,,				2504	0					uc002iui.3																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(685-687)cGa>cAa		Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.							127	127	127					17																	53471726		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471726C>T	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.686G>A	17.37:g.53471726C>T	ENSP00000262065:p.Arg229Gln						p.R229Q	NM_012329	NP_036461	Q15546	PAQRB_HUMAN			6	971	-			229					B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.686G>A	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595699	0.28445	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	3.97	0.46021	.	0.579993	0.15725	N	0.247684	T	0.39627	0.1085	N	0.21448	0.665	0.38726	D	0.95355	B	0.06786	0.001	B	0.01281	0.0	T	0.32903	-0.9889	9	0.36615	T	0.2	-12.6603	6.7007	0.23223	0.1444:0.7106:0.0:0.145	.	229	Q15546	PAQRB_HUMAN	Q	229	.	ENSP00000262065:R229Q	R	-	2	0	MMD	50826725	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.022000	0.49659	1.570000	0.49709	0.643000	0.83706	CGA		0.463	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			T	53471726	C	T	53471726	3	4	175	1	0	0	0	0	1	0	0	0	9643	884	31	2	34	2	MMD	17	53471726	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	13920615	53471726	27723484	58	12436											
KCNH6	81033	broad.mit.edu	37	chr17	61611547	61611547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaccacctatgtcaacAccaatgatgaggtggtcagc	11	8	9	13	1	2	2	2	2	0	0	3	2	3	2	4	2	2	1	4	2	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:61611547A>G	ENST00000583023.1	+	5	987	c.976A>G	c.(976-978)Acc>Gcc	p.T326A	KCNH6_ENST00000314672.5_Missense_Mutation_p.T326A|KCNH6_ENST00000581784.1_Missense_Mutation_p.T326A|KCNH6_ENST00000580652.1_Missense_Mutation_p.T326A|KCNH6_ENST00000456941.2_Missense_Mutation_p.T326A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	326					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTATGTCAACACCAATGATGA	0.567																																						uc002jay.3																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(976-978)Acc>Gcc		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	Ibutilide(DB00308)						186	145	159					17																	61611547		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611547A>G	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.976A>G	17.37:g.61611547A>G	ENSP00000463533:p.Thr326Ala					KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.2_Missense_Mutation_p.T203A|KCNH6_uc010wpm.2_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	p.T326A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			4	1056	+			326					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.976A>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062911	0.19987	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94046	-3.34;-3.34	4.14	-3.8	0.04307	Ion transport (1);	0.554792	0.18197	N	0.148622	T	0.76744	0.4030	N	0.11284	0.12	0.24767	N	0.99289	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.18561	0.021;0.007;0.022;0.004;0.002	T	0.69068	-0.5243	10	0.06757	T	0.87	.	1.4045	0.02278	0.5012:0.1102:0.1507:0.2379	.	203;326;326;326;326	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	A	326	ENSP00000318212:T326A;ENSP00000396900:T326A	ENSP00000318212:T326A	T	+	1	0	KCNH6	58965279	0.925000	0.31364	0.265000	0.24526	0.672000	0.39443	0.194000	0.17135	-0.505000	0.06568	0.254000	0.18369	ACC		0.567	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		G	61611547	A	G	61611547	3	3	175	1	0	0	0	0	1	0	0	0	8036	159	6	4	994	4	KCNH6	17	61611547	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	8139821	61611547	19583663	59	12437											
DNMT1	1786	broad.mit.edu	37	chr19	10288042	10288042	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctaggtgaaggttcAgctgtttaaagaagaaaaag	14	9	14	4	0	1	3	1	1	0	2	1	3	1	3	0	4	1	4	0	4	7	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:10288042A>G	ENST00000340748.4	-	5	682	c.447T>C	c.(445-447)ccT>ccC	p.P149P	DNMT1_ENST00000359526.4_Splice_Site_p.A165A|DNMT1_ENST00000540357.1_Splice_Site_p.P149P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	149	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GTGAAGGTTCAGCTGTTTAAA	0.398																																						uc002mng.3																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.e5-1		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						128	113	118					19																	10288042		2203	4300	6503	SO:0001630	splice_region_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10288042A>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.446-1T>C	19.37:g.10288042A>G						DNMT1_uc010xlc.2_Splice_Site_p.A165_splice|DNMT1_uc002mnh.3_Splice_Site_p.A44_splice|DNMT1_uc010xld.2_Splice_Site_p.P149_splice|DNMT1_uc010dxb.1_Splice_Site	p.P149_splice	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		5	626	-			149			Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.446_splice	CCDS12228.1																																																																																				0.398	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	Silent	G	10288042	A	G	10288042	5	3	175	1	0	0	0	0	0	0	1	0	4675	202	7	4	4547	4	DNMT1	19	10288042	Splice_Site	SNP	A	TCGA-26-5133-01A-01D-1486-08		10288042	48840941	60	12438											
PLEKHG2	64857	broad.mit.edu	37	chr19	39915859	39915859	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggttgaaccaccctgcTctcttggcctccacacagga	7	9	9	16	1	1	1	0	1	1	0	4	2	3	2	5	3	2	2	5	3	1	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:39915859T>G	ENST00000409794.3	+	19	4936	c.4086T>G	c.(4084-4086)gcT>gcG	p.A1362A	PLEKHG2_ENST00000425673.1_Silent_p.A1333A|PLEKHG2_ENST00000458508.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1362					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCACCCTGCTCTCTTGGCCT	0.652																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(4084-4086)gcT>gcG		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							18	21	20					19																	39915859		2183	4251	6434	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915859T>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.4086T>G	19.37:g.39915859T>G						PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.A1140A	p.A1362A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	4411	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1362					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.4086T>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	T	4.603	0.112067	0.08831	.	.	ENSG00000090924	ENST00000205135	.	.	.	5.23	-2.77	0.05877	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44003	-0.9356	4	.	.	.	.	6.65	0.22957	0.1682:0.5655:0.0:0.2663	.	.	.	.	R	1230	.	.	L	+	2	0	PLEKHG2	44607699	0.711000	0.27906	0.829000	0.32907	0.305000	0.27757	-0.699000	0.05087	-0.521000	0.06426	-0.899000	0.02877	CTC		0.652	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		G	39915859	T	G	39915859	2	3	175	1	0	0	0	0	0	0	0	1	12069	1538	54	5		5	PLEKHG2	19	39915859	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	29627817	39915859	19213124	61	12439											
NLRP13	126204	broad.mit.edu	37	chr19	56423467	56423467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctttgtcaagcaagacGtgttgcagtaacatcttcat	10	14	8	9	1	4	1	2	0	2	1	4	1	4	1	0	0	3	5	0	0	3	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:56423467G>A	ENST00000342929.3	-	5	1715	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	NLRP13_ENST00000588751.1_Silent_p.H572H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	572							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGCAAGACGTGTTGCAGTA	0.423																																						uc010ygg.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1714-1716)caC>caT		Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.							122	129	127					19																	56423467		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423467G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1716C>T	19.37:g.56423467G>A							p.H572H	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	4	1741	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	572					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1716C>T	CCDS33119.1																																																																																				0.423	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56423467	G	A	56423467	2	1	175	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56423467	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	16507608	56423467	2705516	62	12440											
COL18A1	80781	broad.mit.edu	37	chr21	46875768	46875768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagaggagaacattgcCggtgtcggagccgagatcct	9	6	15	11	4	0	3	0	0	0	3	2	6	1	4	4	3	3	0	4	3	1	1	rs370000815		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr21:46875768C>T	ENST00000359759.4	+	1	345	c.324C>T	c.(322-324)gcC>gcT	p.A108A	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.A108A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	108					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGAACATTGCCGGTGTCGGAG	0.642																																						uc002zhi.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(322-324)gcC>gcT		Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.		C	,	0,4298		0,0,2149	40	49	46		324,	-6.8	0.1	21		46	1,8517		0,1,4258	no	coding-synonymous,intron	COL18A1	NM_030582.3,NM_130445.2	,	0,1,6407	TT,TC,CC		0.0117,0.0,0.0078	,	108/1520,	46875768	1,12815	2149	4259	6408	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875768C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.324C>T	21.37:g.46875768C>T						COL18A1_uc002zhg.3_Intron	p.A108A	NM_030582	NP_085059	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	0	345	+			108					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.324C>T																																																																																					0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			T	46875768	C	T	46875768	2	4	175	1	0	0	0	0	0	0	0	1	3675	639	23	2		2	COL18A1	21	46875768	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		46875768	1254127	63	12441											
SFRS17A	8227	broad.mit.edu	37	chrX	1719770	1719770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacacgacgagctgggCgtggcacacgccgacctgct	9	4	12	16	5	0	0	0	0	0	0	0	3	0	0	2	2	2	3	2	2	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:1719770C>T	ENST00000313871.3	+	5	1567	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	457					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACGAGCTGGGCGTGGCACACG	0.701													c|||	3	0.000599042	0.0015	0	5008	,	,		13965	0.001		0	False		,,,				2504	0					uc004cqa.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(1369-1371)ggC>ggT		Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.			,	2,4366		0,2,2182	25	23	24		,1371	-3.1	0	X		24	0,8542		0,0,4271	no	intron,coding-synonymous	ASMT,AKAP17A	NM_004043.2,NM_005088.2	,	0,2,6453	TT,TC,CC		0.0,0.0458,0.0155	,	,457/696	1719770	2,12908	2184	4271	6455	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719770C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1371C>T	X.37:g.1719770C>T						AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	p.G457G	NM_005088	NP_005079	Q02040	AK17A_HUMAN			4	1567	+			457					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.1371C>T	CCDS14116.1																																																																																				0.701	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		T	1719770	C	T	1719770	2	4	175	1	0	0	0	0	0	0	0	1	14173	755	27	1		1	SFRS17A	23	1719770	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		1719770	153550790	64	12442											
CITED1	4435	broad.mit.edu	37	chrX	71522708	71522708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaagtgcaggcctcgaCgttgttggcatttcagagcc	9	10	11	11	2	2	1	2	0	0	1	3	2	2	1	2	2	2	4	2	2	1	3	rs146201846	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:71522708C>T	ENST00000246139.5	-	2	587	c.12G>A	c.(10-12)acG>acA	p.T4T	CITED1_ENST00000431381.1_Silent_p.T30T|CITED1_ENST00000373619.3_Silent_p.T4T|CITED1_ENST00000445983.1_Silent_p.T4T	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	4					apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			skin(1)	1	Renal(35;0.156)					CAGGCCTCGACGTTGTTGGCA	0.512																																						uc011mqc.2																			0				skin(1)	1						c.(88-90)acG>acA		Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.		C	,,,	3,3832		0,3,1629,571	120	85	97		90,12,12,12	3.3	1	X	dbSNP_134	97	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CITED1	NM_001144885.1,NM_001144886.1,NM_001144887.1,NM_004143.3	,,,	0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284	,,,	30/220,4/194,4/194,4/194	71522708	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	4435				apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chrX:71522708C>T	U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.12G>A	X.37:g.71522708C>T						CITED1_uc011mqd.2_Silent_p.T4T|CITED1_uc004eas.3_Silent_p.T4T|CITED1_uc004eat.3_Silent_p.T4T	p.T30T	NM_001144885	NP_004134	Q99966	CITE1_HUMAN			2	288	-	Renal(35;0.156)		4					B5BU50|B5BUI2	Silent	SNP	ENST00000246139.5	37	c.90G>A	CCDS14419.1	.	.	.	.	.	.	.	.	.	.	C	7.295	0.611772	0.14066	7.82E-4	0.0	ENSG00000125931	ENST00000429794	.	.	.	4.13	3.26	0.37387	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54153	-0.8336	4	.	.	.	-4.4949	8.3659	0.32387	0.2332:0.7668:0.0:0.0	.	.	.	.	H	4	.	.	R	-	2	0	CITED1	71439433	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.630000	0.37081	1.098000	0.41479	-0.307000	0.09154	CGT		0.512	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057181.1	NM_004143		T	71522708	C	T	71522708	2	4	175	1	0	0	0	0	0	0	0	1	3439	523	19	1		1	CITED1	23	71522708	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	69802938	71522708	83747852	65	12443											
CHRDL1	91851	broad.mit.edu	37	chrX	109922648	109922648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaatatggaagtgctggaGaatgcctagggccaagcaaa	14	7	12	8	0	1	1	1	0	0	1	1	3	1	2	2	3	3	2	2	3	7	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:109922648G>C	ENST00000372045.1	-	11	1269	c.1138C>G	c.(1138-1140)Ctc>Gtc	p.L380V	CHRDL1_ENST00000372042.1_Missense_Mutation_p.L388V|CHRDL1_ENST00000482160.1_Missense_Mutation_p.L308V|CHRDL1_ENST00000218054.4_Missense_Mutation_p.L386V|CHRDL1_ENST00000444321.2_Missense_Mutation_p.L387V|CHRDL1_ENST00000434224.1_Missense_Mutation_p.L307V|CHRDL1_ENST00000394797.4_Missense_Mutation_p.L386V			Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453																																						uc004eou.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(1162-1164)Ctc>Gtc		Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.							120	94	103					X																	109922648		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109922648G>C	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1138C>G	X.37:g.109922648G>C	ENSP00000361115:p.Leu380Val					CHRDL1_uc004eov.3_Missense_Mutation_p.L377V|CHRDL1_uc004eow.3_Missense_Mutation_p.L386V|CHRDL1_uc010nps.3_Missense_Mutation_p.L387V|CHRDL1_uc011mss.2_Missense_Mutation_p.L308V	p.L388V	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			10	1511	-			380					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.1162C>G		.	.	.	.	.	.	.	.	.	.	G	11.15	1.552863	0.27739	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.38240	1.92;1.15;1.91;1.91;2.17;1.16;1.91	5.04	3.26	0.37387	.	0.000000	0.64402	D	0.000001	T	0.42291	0.1196	L	0.27053	0.805	0.45621	D	0.998551	D;D;D;D;D;D	0.63880	0.986;0.993;0.993;0.993;0.993;0.993	D;D;D;D;D;D	0.70016	0.965;0.967;0.967;0.967;0.967;0.952	T	0.10543	-1.0625	9	.	.	.	-5.765	11.1547	0.48480	0.1573:0.0:0.8427:0.0	.	308;387;367;380;388;307	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	V	380;307;386;386;388;308;387	ENSP00000361115:L380V;ENSP00000389627:L307V;ENSP00000218054:L386V;ENSP00000378276:L386V;ENSP00000361112:L388V;ENSP00000418443:L308V;ENSP00000399739:L387V	.	L	-	1	0	CHRDL1	109809304	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	3.747000	0.55134	0.590000	0.29694	-0.191000	0.12829	CTC		0.453	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		C	109922648	G	C	109922648	3	2	175	1	0	0	0	0	1	0	0	0	3373	942	33	5	222	5	CHRDL1	23	109922648	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	38399940	109922648	45347912	66	12444											
GALE	11313	broad.mit.edu	37	chr1	24123528	24123528	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcccttttgccttacctggGagacataaggcatgaggttg	8	13	11	9	0	0	2	0	1	0	1	1	3	1	2	3	3	2	2	3	3	2	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:24123528G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Missense_Mutation_p.S213F|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTTACCTGGGAGACATAAGG	0.587																																						uc009vqo.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(637-639)tCc>tTc		Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.							71	58	62					1																	24123528		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24123528G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24123528G>A						GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F	p.S213F	NM_001127621	NP_001121093	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	5	848	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	213					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.638C>T	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744557	0.89663	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277	D;D;D	0.93247	-3.19;-3.19;-3.19	5.55	5.55	0.83447	NAD-dependent epimerase/dehydratase (1);	0.174887	0.51477	D	0.000096	D	0.94941	0.8364	L	0.35414	1.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.977;1.0;1.0	D;D;P;D;D	0.87578	0.994;0.998;0.87;0.997;0.997	D	0.95566	0.8634	10	0.87932	D	0	-21.8604	19.0958	0.93251	0.0:0.0:1.0:0.0	.	149;139;149;213;213	Q5QPP3;B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;.;GALE_HUMAN	F	149;213;149;149	ENSP00000363621:S213F;ENSP00000398585:S149F;ENSP00000414719:S149F	ENSP00000363621:S213F	S	-	2	0	GALE	23996115	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.511000	0.81718	2.620000	0.88729	0.655000	0.94253	TCC		0.587	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			A	24123528	G	A	24123528	1	1	176	0	1	0	0	0	0	0	0	0	6202	1174	41	3		3	GALE	1	24123528	IGR	SNP	G	TCGA-26-5134-01A-01D-1486-08		24123528	225127093	1	12445											
MFSD2A	84879	broad.mit.edu	37	chr1	40431623	40431623	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtttccaggacctcaaTagctctacagtagcttcaca	10	12	6	13	0	3	0	2	0	1	0	4	1	4	1	3	1	3	4	3	1	4	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:40431623T>C	ENST00000372809.5	+	6	833	c.690T>C	c.(688-690)aaT>aaC	p.N230N	MFSD2A_ENST00000372811.5_Silent_p.N217N|MFSD2A_ENST00000420632.2_Silent_p.N61N|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	230					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGACCTCAATAGCTCTACAG	0.572																																						uc001cev.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(688-690)aaT>aaC		Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.							125	98	107					1																	40431623		2203	4300	6503	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40431623T>C	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.690T>C	1.37:g.40431623T>C						MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.3_Silent_p.N217N|MFSD2A_uc010ojc.2_Silent_p.N61N|MFSD2A_uc009vvy.3_Non-coding_Transcript	p.N230N	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			5	871	+			230					A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.690T>C	CCDS44118.1																																																																																				0.572	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		C	40431623	T	C	40431623	2	2	176	1	0	0	0	0	0	0	0	1	9530	1403	49	4		4	MFSD2A	1	40431623	Silent	SNP	T	TCGA-26-5134-01A-01D-1486-08	16308095	40431623	208818998	2	12446											
CYP4Z1	199974	broad.mit.edu	37	chr1	47583502	47583502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcattaactctgctcCgcttcaagctggctccagac	8	10	9	14	1	2	1	1	0	1	1	4	1	4	1	2	2	3	5	2	2	2	2	rs145758676		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:47583502C>T	ENST00000334194.3	+	12	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	472						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468													c|||	1	0.000199681	0	0	5008	,	,		15724	0		0.001	False		,,,				2504	0					uc001cqu.1																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1414-1416)Cgc>Tgc		Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	83	73	77		1414	0.9	0.1	1	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4Z1	NM_178134.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	472/506	47583502	1,13005	2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583502C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1414C>T	1.37:g.47583502C>T	ENSP00000334246:p.Arg472Cys						p.R472C	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			11	1417	+			472					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.1414C>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.029346	0.54790	0.0	1.16E-4	ENSG00000186160	ENST00000334194	T	0.71103	-0.54	1.87	0.888	0.19206	.	0.165528	0.36854	U	0.002373	T	0.78672	0.4320	M	0.72894	2.215	0.42263	D	0.992025	D	0.89917	1.0	D	0.73380	0.98	T	0.76515	-0.2931	10	0.87932	D	0	.	7.392	0.26915	0.0:0.8486:0.0:0.1514	.	472	Q86W10	CP4Z1_HUMAN	C	472	ENSP00000334246:R472C	ENSP00000334246:R472C	R	+	1	0	CYP4Z1	47356089	0.075000	0.21258	0.082000	0.20525	0.520000	0.34377	1.509000	0.35780	0.160000	0.19432	0.271000	0.19318	CGC		0.468	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		T	47583502	C	T	47583502	3	4	176	1	0	0	0	0	1	0	0	0	4194	652	23	2	1460	2	CYP4Z1	1	47583502	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	7151879	47583502	201667119	3	12447											
ROCK2	9475	broad.mit.edu	37	chr2	11332301	11332301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggggcaagctgtcgaCttggccgtctaatagactgg	7	12	14	8	2	1	1	0	0	1	1	2	2	1	1	1	4	1	3	1	4	3	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:11332301C>T	ENST00000315872.6	-	32	4584	c.4136G>A	c.(4135-4137)aGt>aAt	p.S1379N	ROCK2_ENST00000401753.1_Missense_Mutation_p.S1136N	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1379					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCTGTCGACTTGGCCGTCT	0.368																																						uc002rbd.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(4135-4137)aGt>aAt		Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.							116	110	112					2																	11332301		1818	4077	5895	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332301C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4136G>A	2.37:g.11332301C>T	ENSP00000317985:p.Ser1379Asn						p.S1379N	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	31	4585	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1379					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.4136G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675956	0.88445	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64618	-0.11;0.95	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	N	0.08118	0	0.58432	D	0.999996	P	0.45531	0.86	P	0.45343	0.477	T	0.56938	-0.7896	10	0.44086	T	0.13	.	19.6691	0.95903	0.0:1.0:0.0:0.0	.	1379	O75116	ROCK2_HUMAN	N	1379;1136;737	ENSP00000317985:S1379N;ENSP00000385509:S1136N	ENSP00000317985:S1379N	S	-	2	0	ROCK2	11249752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.939000	0.63526	2.721000	0.93114	0.591000	0.81541	AGT		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			T	11332301	C	T	11332301	3	4	176	1	0	0	0	0	1	0	0	0	13518	565	20	3	38	3	ROCK2	2	11332301	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		11332301	231867072	4	12448											
ITSN2	50618	broad.mit.edu	37	chr2	24526701	24526701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagtttgagaaagatttGactgaagaagggcatttcta	13	12	12	4	0	1	6	0	4	1	3	1	7	1	6	0	1	0	3	0	1	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:24526701G>A	ENST00000355123.4	-	9	1267	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S275L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S275L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	275	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAGATTTGACTGAAGAAG	0.318																																						uc002rfe.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(823-825)tCa>tTa		Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.							88	91	90					2																	24526701		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24526701G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.824C>T	2.37:g.24526701G>A	ENSP00000347244:p.Ser275Leu					ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.3_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	p.S275L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			8	1082	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		275			EH 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.824C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919960	0.92249	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.81	4.81	0.61882	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.31335	U	0.007822	T	0.68485	0.3006	M	0.82517	2.595	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.81914	0.987;0.987;0.99;0.995	T	0.73883	-0.3842	10	0.87932	D	0	.	18.4397	0.90662	0.0:0.0:1.0:0.0	.	275;275;275;275	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	L	275;275;275;299;275;300	ENSP00000354561:S275L;ENSP00000347244:S275L;ENSP00000370250:S275L;ENSP00000384499:S275L;ENSP00000391224:S300L	ENSP00000347244:S275L	S	-	2	0	ITSN2	24380205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.046000	0.76592	2.674000	0.91012	0.491000	0.48974	TCA		0.318	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		A	24526701	G	A	24526701	3	1	176	1	0	0	0	0	1	0	0	0	7927	1294	45	3	4448	3	ITSN2	2	24526701	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	13194400	24526701	218672672	5	12449											
ZNF638	27332	broad.mit.edu	37	chr2	71577393	71577393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaacgtagaatgtagtCatttgaaggtgagtgttttt	10	17	12	2	1	1	3	1	2	0	1	1	3	1	3	0	1	1	4	0	1	5	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:71577393C>A	ENST00000409544.1	+	2	1939	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	ZNF638_ENST00000355812.3_Missense_Mutation_p.H437N|ZNF638_ENST00000264447.4_Missense_Mutation_p.H437N|ZNF638_ENST00000377802.2_Missense_Mutation_p.H437N|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	437					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAATGTAGTCATTTGAAGGT	0.358																																						uc002shx.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1309-1311)Cat>Aat		Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.							71	75	74					2																	71577393		2173	4287	6460	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577393C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1309C>A	2.37:g.71577393C>A	ENSP00000386433:p.His437Asn					ZNF638_uc010fec.2_Missense_Mutation_p.H543N|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.H437N|ZNF638_uc002shz.3_Missense_Mutation_p.H437N|ZNF638_uc002shy.3_Missense_Mutation_p.H437N|ZNF638_uc002sia.3_Missense_Mutation_p.H437N|ZNF638_uc002sib.1_Missense_Mutation_p.H437N	p.H437N	NM_014497	NP_055312	Q14966	ZN638_HUMAN			1	1632	+			437					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1309C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136292	0.37728	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.72725	-0.09;-0.68;0.48;-0.09;1.48;1.48	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.402088	0.29745	N	0.011309	T	0.65575	0.2704	N	0.24115	0.695	0.34064	D	0.657609	D;P;P;P;D	0.57257	0.979;0.94;0.949;0.932;0.979	P;P;P;P;P	0.53401	0.725;0.546;0.6;0.476;0.64	T	0.67325	-0.5699	10	0.17832	T	0.49	-13.8948	13.2837	0.60230	0.0:0.8412:0.1588:0.0	.	543;437;437;437;437	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	N	437;543;437;437;437;437	ENSP00000386669:H437N;ENSP00000438189:H543N;ENSP00000348066:H437N;ENSP00000367033:H437N;ENSP00000264447:H437N;ENSP00000386433:H437N	ENSP00000264447:H437N	H	+	1	0	ZNF638	71430901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.519000	0.45546	2.782000	0.95742	0.655000	0.94253	CAT		0.358	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71577393	C	A	71577393	3	1	176	1	0	0	0	0	1	0	0	0	18052	826	29	5	1311	5	ZNF638	2	71577393	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	47050692	71577393	171621980	6	12450											
ADRA2B	151	broad.mit.edu	37	chr2	96781837	96781837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaatgaggaaggtgatggCcgccgctatggccgctgtgg	8	7	18	8	3	0	3	0	2	0	1	0	5	0	4	3	5	0	2	3	5	3	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:96781837C>T	ENST00000409345.3	-	1	147	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	18					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGGTGATGGCCGCCGCTATG	0.662																																						uc021vlh.1																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(52-54)Gcc>Acc		Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						20	26	24					2																	96781837		2129	4229	6358	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781837C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.52G>A	2.37:g.96781837C>T	ENSP00000387281:p.Ala18Thr						p.A18T	NM_000682	NP_000673	P18089	ADA2B_HUMAN			0	52	-			18					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.52G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186225	0.38609	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.42	4.42	0.53409	.	.	.	.	.	T	0.20941	0.0504	N	0.11000	0.08	0.27484	N	0.952499	B	0.23058	0.079	B	0.21917	0.037	T	0.07654	-1.0761	9	0.72032	D	0.01	.	8.2547	0.31748	0.0:0.8937:0.0:0.1063	.	18	P18089	ADA2B_HUMAN	T	18	ENSP00000387281:A18T	ENSP00000387281:A18T	A	-	1	0	ADRA2B	96145564	0.985000	0.35326	0.999000	0.59377	0.340000	0.28889	2.319000	0.43788	2.302000	0.77476	0.456000	0.33151	GCC		0.662	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			T	96781837	C	T	96781837	3	4	176	1	0	0	0	0	1	0	0	0	338	739	26	3	1295	3	ADRA2B	2	96781837	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	25204444	96781837	146417536	7	12451											
WIPF1	7456	broad.mit.edu	37	chr2	175432647	175432647	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggtggaggtgggggAggtgccccagcactgggcct	5	8	20	8	0	0	1	0	1	0	0	0	3	0	3	3	7	2	2	3	7	0	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:175432647A>C	ENST00000392547.2	-	6	1383	c.1284T>G	c.(1282-1284)ccT>ccG	p.P428P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Silent_p.P428P|WIPF1_ENST00000272746.5_Silent_p.P428P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P428P|WIPF1_ENST00000392546.2_Silent_p.P428P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	428	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGTGGGGGAGGTGCCCCAG	0.587																																						uc002uiz.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(1282-1284)ccT>ccG		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							66	71	69					2																	175432647		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175432647A>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1284T>G	2.37:g.175432647A>C						BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002ujb.2_Silent_p.P428P	p.P428P	NM_003387	NP_003378	O43516	WIPF1_HUMAN			5	1384	-			428			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.1284T>G	CCDS2260.1																																																																																				0.587	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		C	175432647	A	C	175432647	2	2	176	1	0	0	0	0	0	0	0	1	17364	291	11	5		5	WIPF1	2	175432647	Silent	SNP	A	TCGA-26-5134-01A-01D-1486-08	78650810	175432647	67766726	8	12452											
KIF15	56992	broad.mit.edu	37	chr3	44882590	44882590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagacaccacctcactttCaaacacatttggcaaaactc	15	9	3	14	0	2	1	2	0	0	1	3	1	2	1	2	1	2	1	2	1	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:44882590C>G	ENST00000326047.4	+	29	3594	c.3445C>G	c.(3445-3447)Caa>Gaa	p.Q1149E	KIF15_ENST00000425755.1_Missense_Mutation_p.Q784E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1149					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTCACTTTCAAACACATTT	0.333																																						uc003cnx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3445-3447)Caa>Gaa		Homo sapiens kinesin family member 15 (KIF15), mRNA.							68	71	70					3																	44882590		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44882590C>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3445C>G	3.37:g.44882590C>G	ENSP00000324020:p.Gln1149Glu					KIF15_uc010hiq.3_Missense_Mutation_p.Q1052E|KIF15_uc010hir.3_Missense_Mutation_p.Q197E	p.Q1149E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	28	3594	+			1149					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3445C>G	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388222	0.42308	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.65732	-0.17;2.01	6.17	6.17	0.99709	.	0.282211	0.25310	N	0.031591	T	0.41604	0.1166	N	0.14661	0.345	0.28208	N	0.927075	B	0.14805	0.011	B	0.16289	0.015	T	0.15093	-1.0449	10	0.02654	T	1	.	14.3277	0.66530	0.0:0.8116:0.1884:0.0	.	1149	Q9NS87	KIF15_HUMAN	E	1149;1146;784	ENSP00000324020:Q1149E;ENSP00000389982:Q784E	ENSP00000324020:Q1149E	Q	+	1	0	KIF15	44857594	1.000000	0.71417	0.990000	0.47175	0.923000	0.55619	1.698000	0.37794	2.941000	0.99782	0.655000	0.94253	CAA		0.333	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			G	44882590	C	G	44882590	3	3	176	1	0	0	0	0	1	0	0	0	8277	827	29	5	3559	5	KIF15	3	44882590	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		44882590	153139840	9	12453											
SETD2	29072	broad.mit.edu	37	chr3	47147485	47147485	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacatatccaagctgcttAcctcatcattcttcagggcc	11	11	5	14	0	4	0	3	0	1	0	5	0	5	0	3	1	4	2	3	1	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:47147485A>G	ENST00000409792.3	-	6	4882		c.e6+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CAAGCTGCTTACCTCATCATT	0.368			"N, F, S, Mis"		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e6+1		Homo sapiens SET domain containing 2 (SETD2), mRNA.							161	158	159					3																	47147485		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47147485A>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4839+1T>C	3.37:g.47147485A>G						SETD2_uc003cqs.3_Splice_Site_p.E1613_splice	p.E1602_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	6	4892	-		Acute lymphoblastic leukemia(5;0.0169)	1613			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	c.4806_splice	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557244	0.86231	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47122489	1.000000	0.71417	0.941000	0.38009	0.942000	0.58702	8.840000	0.92125	2.134000	0.65973	0.528000	0.53228	.		0.368	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	G	47147485	A	G	47147485	5	3	176	1	0	0	0	0	0	0	1	0	14131	405	14	4	2917	4	SETD2	3	47147485	Splice_Site	SNP	A	TCGA-26-5134-01A-01D-1486-08	2264895	47147485	150874945	10	12454											
UQCRC1	7384	broad.mit.edu	37	chr3	48641675	48641675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctcacctgacattcTcactgggcccctccacagcc	8	8	5	20	0	2	1	2	1	2	0	5	1	3	1	6	1	2	0	6	1	1	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:48641675T>C	ENST00000203407.5	-	5	1033	c.617A>G	c.(616-618)gAg>gGg	p.E206G		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	206					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGACATTCTCACTGGGCCC	0.552																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(616-618)gAg>gGg		Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	Atovaquone(DB01117)						133	119	124					3																	48641675		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48641675T>C	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.617A>G	3.37:g.48641675T>C	ENSP00000203407:p.Glu206Gly						p.E206G	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	662	-			206					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.617A>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776087	0.49786	.	.	ENSG00000010256	ENST00000203407	T	0.53423	0.62	5.83	4.66	0.58398	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.374636	0.35378	N	0.003255	T	0.47303	0.1438	M	0.78456	2.415	0.37799	D	0.927645	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.51710	-0.8671	10	0.66056	D	0.02	-20.2623	7.7577	0.28933	0.0:0.0745:0.1381:0.7874	.	91;206	B4DUL5;P31930	.;QCR1_HUMAN	G	206	ENSP00000203407:E206G	ENSP00000203407:E206G	E	-	2	0	UQCRC1	48616679	0.014000	0.17966	1.000000	0.80357	0.988000	0.76386	0.864000	0.27926	1.020000	0.39573	0.459000	0.35465	GAG		0.552	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		C	48641675	T	C	48641675	3	2	176	1	0	0	0	0	1	0	0	0	17016	1551	54	4	861	4	UQCRC1	3	48641675	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	1494190	48641675	149380755	11	12455											
MECOM	2122	broad.mit.edu	37	chr3	168810761	168810761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctctcctccacattcCtgggagattggctgccatgg	6	13	9	13	0	1	1	0	0	1	1	4	2	3	1	5	3	2	1	5	3	1	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:168810761C>T	ENST00000464456.1	-	12	3758	c.2558G>A	c.(2557-2559)aGg>aAg	p.R853K	MECOM_ENST00000433243.2_Missense_Mutation_p.R863K|MECOM_ENST00000460814.1_Missense_Mutation_p.R853K|MECOM_ENST00000392736.3_Missense_Mutation_p.R862K|MECOM_ENST00000494292.1_Missense_Mutation_p.R1041K|MECOM_ENST00000472280.1_Missense_Mutation_p.R863K|MECOM_ENST00000468789.1_Missense_Mutation_p.R862K|MECOM_ENST00000264674.3_Missense_Mutation_p.R927K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCCACATTCCTGGGAGATTG	0.403																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(3148-3150)aGg>aAg		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							111	102	105					3																	168810761		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168810761C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2558G>A	3.37:g.168810761C>T	ENSP00000419770:p.Arg853Lys					MECOM_uc010hwk.1_Missense_Mutation_p.R876K|MECOM_uc003ffj.3_Missense_Mutation_p.R927K|MECOM_uc003ffi.3_Missense_Mutation_p.R862K|MECOM_uc011bpi.1_Missense_Mutation_p.R854K|MECOM_uc003ffn.3_Missense_Mutation_p.R862K|MECOM_uc003ffk.2_Missense_Mutation_p.R853K|MECOM_uc003ffl.2_Missense_Mutation_p.R1013K|MECOM_uc011bpk.1_Missense_Mutation_p.R862K	p.R1050K	NM_004991	NP_004982	Q13465	MDS1_HUMAN			13	3552	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.3149G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093430	0.36952	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.49;3.5;3.45;3.59;3.45;3.5;3.45;3.59	5.41	5.41	0.78517	.	0.524949	0.19629	N	0.109701	T	0.04861	0.0131	N	0.14661	0.345	0.33158	D	0.546597	P;B;B;B;B	0.36577	0.558;0.372;0.422;0.372;0.167	B;B;B;B;B	0.35770	0.21;0.114;0.066;0.114;0.034	T	0.36696	-0.9737	10	0.33940	T	0.23	-13.3537	13.1944	0.59730	0.1592:0.8408:0.0:0.0	.	1050;854;1041;927;862	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	927;862;853;863;1041;862;853;863	ENSP00000264674:R927K;ENSP00000376493:R862K;ENSP00000419770:R853K;ENSP00000420048:R863K;ENSP00000417899:R1041K;ENSP00000419995:R862K;ENSP00000420466:R853K;ENSP00000394302:R863K	ENSP00000264674:R927K	R	-	2	0	MECOM	170293455	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	1.048000	0.30379	2.527000	0.85204	0.460000	0.39030	AGG		0.403	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		T	168810761	C	T	168810761	3	4	176	1	0	0	0	0	1	0	0	0	9422	681	24	3	586	3	MECOM	3	168810761	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	120169086	168810761	29211669	12	12456											
SAMD7	344658	broad.mit.edu	37	chr3	169656173	169656173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataagacaagcatttgAtcaaccagcagatacatccc	15	9	5	12	0	1	3	1	1	0	2	3	3	3	3	3	0	4	2	3	0	5	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:169656173A>G	ENST00000428432.2	+	9	1609	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Missense_Mutation_p.D407G	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGCATTTGATCAACCAGCA	0.348																																						uc003fgd.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1219-1221)gAt>gGt		Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.							97	98	98					3																	169656173		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169656173A>G	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1220A>G	3.37:g.169656173A>G	ENSP00000391299:p.Asp407Gly					SAMD7_uc003fge.3_Missense_Mutation_p.D407G|SAMD7_uc011bpo.2_Missense_Mutation_p.D308G	p.D407G	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		8	1487	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		407						Missense_Mutation	SNP	ENST00000428432.2	37	c.1220A>G	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.302016	0.10678	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.43294	0.95;0.95	4.46	3.26	0.37387	.	0.405930	0.26528	N	0.023867	T	0.30510	0.0767	L	0.27053	0.805	0.18873	N	0.999986	P	0.42908	0.793	B	0.41374	0.355	T	0.11299	-1.0593	10	0.66056	D	0.02	-6.3231	9.6707	0.40011	0.8246:0.1754:0.0:0.0	.	407	Q7Z3H4	SAMD7_HUMAN	G	407	ENSP00000391299:D407G;ENSP00000334668:D407G	ENSP00000334668:D407G	D	+	2	0	SAMD7	171138867	0.942000	0.31987	0.065000	0.19835	0.004000	0.04260	1.510000	0.35790	0.648000	0.30732	0.402000	0.26972	GAT		0.348	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		G	169656173	A	G	169656173	3	3	176	1	0	0	0	0	1	0	0	0	13824	333	12	4	1246	4	SAMD7	3	169656173	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	845412	169656173	28366257	13	12457											
PDGFRA	5156	broad.mit.edu	37	chr4	55133888	55133899	+	In_Frame_Del	DEL	GGAAAAGATTCA	GGAAAAGATTCA	-																															actgagatcaccactgatgtGgaaaagattcaggaaataag																										TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:55133888_55133899delGGAAAAGATTCA	ENST00000257290.5	+	7	1432_1443	c.1101_1112delGGAAAAGATTCA	c.(1099-1113)gtggaaaagattcag>gtg	p.EKIQ368del	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	368	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCACTGATGTGGAAAAGATTCAGGAAATAAGG	0.448			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1099-1113)gtggaaaagattcag>gtg		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001651	inframe_deletion	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133888_55133899delGGAAAAGATTCA	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1101_1112delGGAAAAGATTCA	4.37:g.55133888_55133899delGGAAAAGATTCA	ENSP00000257290:p.Glu368_Gln371del	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_Non-coding_Transcript	p.EKIQ368del	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1432_1443	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		368			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	In_Frame_Del	DEL	ENST00000257290.5	37	c.1101_1112delGGAAAAGATTCA	CCDS3495.1																																																																																				0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		-	55133899	GGAAAAGATTCA	-	55133888	7	5	176	1	0	1	0	1	0	0	0	0	11661	1335	47	0	1123	0	PDGFRA	4	55133888	In_Frame_Del	DEL	GGAAAAGATTCA	TCGA-26-5134-01A-01D-1486-08		55133888	136020388	14	12458											
ENAM	10117	broad.mit.edu	37	chr4	71509712	71509712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcatcccaccaagttacCcatcaggtcaaaaagaagca	16	7	5	13	0	3	1	3	0	0	1	4	1	4	1	3	1	2	2	3	1	5	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:71509712C>A	ENST00000396073.3	+	9	2850	c.2569C>A	c.(2569-2571)Cca>Aca	p.P857T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	857					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCAAGTTACCCATCAGGTCA	0.448																																						uc011caw.1																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2569-2571)Cca>Aca		Homo sapiens enamelin (ENAM), mRNA.							105	102	103					4																	71509712		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509712C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2569C>A	4.37:g.71509712C>A	ENSP00000379383:p.Pro857Thr						p.P857T	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	2850	+			857					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2569C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703795	0.48412	.	.	ENSG00000132464	ENST00000396073	T	0.42131	0.98	6.08	4.37	0.52481	.	0.221905	0.32578	N	0.005914	T	0.61788	0.2375	M	0.80982	2.52	0.24110	N	0.995844	D	0.67145	0.996	D	0.68039	0.955	T	0.56938	-0.7896	10	0.87932	D	0	-3.1955	9.3144	0.37926	0.0:0.8366:0.0:0.1634	.	857	Q9NRM1	ENAM_HUMAN	T	857	ENSP00000379383:P857T	ENSP00000379383:P857T	P	+	1	0	ENAM	71728576	0.091000	0.21658	0.917000	0.36280	0.962000	0.63368	2.593000	0.46180	0.914000	0.36822	0.655000	0.94253	CCA		0.448	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		A	71509712	C	A	71509712	3	1	176	1	0	0	0	0	1	0	0	0	5112	623	22	5	2599	5	ENAM	4	71509712	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	16375824	71509712	119644564	15	12459											
PTPN13	5783	broad.mit.edu	37	chr4	87728883	87728883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaatccacagtgataGccatgatgactcaagaagta	18	7	8	8	0	1	4	1	3	0	1	2	4	2	4	2	0	2	2	2	0	6	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:87728883G>A	ENST00000411767.2	+	45	6979	c.6916G>A	c.(6916-6918)Gcc>Acc	p.A2306T	PTPN13_ENST00000427191.2_Missense_Mutation_p.A2287T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2311T|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2311T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2115T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2306	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACAGTGATAGCCATGATGAC	0.453																																						uc003hpz.3																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6916-6918)Gcc>Acc		Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.							159	152	154					4																	87728883		1930	4121	6051	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87728883G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6916G>A	4.37:g.87728883G>A	ENSP00000407249:p.Ala2306Thr					PTPN13_uc003hpy.3_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.3_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.3_Missense_Mutation_p.A2115T	p.A2306T	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	44	7396	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2306			Tyrosine-protein phosphatase.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6916G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667862	0.96745	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.68	5.68	0.88126	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49305	D	0.000149	T	0.47563	0.1452	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.999;0.999	D;P;D;D	0.87578	0.998;0.847;0.956;0.926	T	0.54029	-0.8354	10	0.72032	D	0.01	.	19.8003	0.96504	0.0:0.0:1.0:0.0	.	2115;2287;2306;2311	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	2287;2311;2115;2306;2311;2255	ENSP00000408368:A2287T;ENSP00000394794:A2311T;ENSP00000322675:A2115T;ENSP00000407249:A2306T;ENSP00000426626:A2311T	ENSP00000322675:A2115T	A	+	1	0	PTPN13	87947907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.672000	0.98629	2.672000	0.90937	0.650000	0.86243	GCC		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87728883	G	A	87728883	3	1	176	1	0	0	0	0	1	0	0	0	12782	971	34	3	7105	3	PTPN13	4	87728883	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	16219171	87728883	103425393	16	12460											
ADH1A	124	broad.mit.edu	37	chr4	100205753	100205753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggtgccatcctgcaGggtcccctgaggattgctta	5	11	12	13	0	0	1	0	1	0	0	2	2	2	2	5	3	4	3	5	3	1	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:100205753G>T	ENST00000209668.2	-	5	483	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	124					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CCATCCTGCAGGGTCCCCTGA	0.517																																						uc003hur.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(370-372)Ctg>Atg		Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						73	71	72					4																	100205753		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205753G>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.370C>A	4.37:g.100205753G>T	ENSP00000209668:p.Leu124Met					LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	p.L124M	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	4	484	-			124					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.370C>A	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.217239	0.00286	.	.	ENSG00000187758	ENST00000209668	T	0.03330	3.97	2.59	-5.18	0.02840	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.334747	0.31601	N	0.007363	T	0.00998	0.0033	N	0.01640	-0.785	0.09310	N	1	B	0.12013	0.005	B	0.25987	0.065	T	0.27706	-1.0066	10	0.02654	T	1	-1.5932	6.1796	0.20463	0.1974:0.0:0.2772:0.5254	.	124	P07327	ADH1A_HUMAN	M	124	ENSP00000209668:L124M	ENSP00000209668:L124M	L	-	1	2	ADH1A	100424776	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.920000	0.01571	-1.655000	0.01497	-0.535000	0.04281	CTG		0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		T	100205753	G	T	100205753	3	4	176	1	0	0	0	0	1	0	0	0	307	991	35	5	777	5	ADH1A	4	100205753	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	12476870	100205753	90948523	17	12461											
PRMT10	90826	broad.mit.edu	37	chr4	148589774	148589774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactttcccatacttttcaCaattagcactttcacctttg	10	17	2	12	0	2	0	2	0	0	0	3	0	3	0	2	0	3	1	2	0	4	8	rs147339843		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:148589774C>A	ENST00000322396.6	-	6	1111	c.869G>T	c.(868-870)tGt>tTt	p.C290F	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.C177F	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		290	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATACTTTTCACAATTAGCACT	0.318																																						uc003ilc.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(868-870)tGt>tTt		Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.							128	120	123					4																	148589774		2203	4299	6502	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148589774C>A																												ENST00000322396.6:c.869G>T	4.37:g.148589774C>A	ENSP00000314396:p.Cys290Phe					PRMT10_uc003ild.3_Missense_Mutation_p.C177F	p.C290F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			5	1011	-			290					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.869G>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531347	0.27387	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.24350	1.86;1.86	6.03	5.18	0.71444	.	0.363128	0.34156	N	0.004208	T	0.17746	0.0426	L	0.44542	1.39	0.31172	N	0.703086	B	0.19331	0.035	B	0.20955	0.032	T	0.22138	-1.0225	10	0.10377	T	0.69	-2.5753	5.8064	0.18442	0.1213:0.6334:0.1699:0.0754	.	290	Q6P2P2	ANM10_HUMAN	F	290;177	ENSP00000314396:C290F;ENSP00000439508:C177F	ENSP00000314396:C290F	C	-	2	0	PRMT10	148809224	0.915000	0.31059	0.769000	0.31535	0.917000	0.54804	0.054000	0.14205	1.554000	0.49487	0.551000	0.68910	TGT		0.318	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			A	148589774	C	A	148589774	3	1	176	1	0	0	0	0	1	0	0	0	12536	478	17	5	1696	5	PRMT10	4	148589774	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	48384021	148589774	42564502	18	12462											
FGA	2243	broad.mit.edu	37	chr4	155508053	155508053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccctcgacaagatcggatCttaatatcaatgtccaccta	13	10	6	12	2	2	1	1	0	1	1	5	4	3	2	3	1	0	0	3	1	5	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:155508053C>G	ENST00000302053.3	-	5	606	c.528G>C	c.(526-528)aaG>aaC	p.K176N	FGA_ENST00000403106.3_Missense_Mutation_p.K176N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	176					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGATCGGATCTTAATATCAA	0.393																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(526-528)aaG>aaC		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						74	75	75					4																	155508053		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508053C>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.528G>C	4.37:g.155508053C>G	ENSP00000306361:p.Lys176Asn					FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	p.K176N	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	586	-	all_hematologic(180;0.215)	Renal(120;0.0458)	176					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.528G>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529338	0.64860	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.86627	-2.15;-2.15	6.17	5.33	0.75918	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.087355	0.85682	D	0.000000	D	0.92678	0.7673	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93206	0.6596	10	0.87932	D	0	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	176;176	P02671-2;P02671	.;FIBA_HUMAN	N	176	ENSP00000306361:K176N;ENSP00000385981:K176N	ENSP00000306361:K176N	K	-	3	2	FGA	155727503	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.211000	0.42825	1.627000	0.50400	0.655000	0.94253	AAG		0.393	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		G	155508053	C	G	155508053	3	3	176	1	0	0	0	0	1	0	0	0	5830	912	32	5	2124	5	FGA	4	155508053	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	6918279	155508053	35646223	19	12463											
PCDHA7	56141	broad.mit.edu	37	chr5	140215867	140215867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacactggtgagatcagcacGacacgagccctagatgagac	13	6	11	11	2	1	3	1	2	0	3	1	7	1	3	1	1	3	1	1	1	2	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:140215867G>A	ENST00000525929.1	+	1	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.T633T|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGAGCCC	0.647																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1897-1899)acG>acA		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							98	100	99					5																	140215867		2203	4299	6502	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140215867G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1899G>A	5.37:g.140215867G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.T633T	p.T633T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1899	+			644			Cadherin 6.		O75282	Silent	SNP	ENST00000525929.1	37	c.1899G>A	CCDS54918.1																																																																																				0.647	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215867	G	A	140215867	2	1	176	1	0	0	0	0	0	0	0	1	11529	1045	37	2		2	PCDHA7	5	140215867	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08		140215867	40699393	20	12464											
HSPA1L	3305	broad.mit.edu	37	chr6	31778907	31778907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaatttctaggttggcCtgggtgctggacgacagggt	8	11	15	7	1	2	0	1	0	1	0	2	3	2	1	1	5	1	2	1	5	3	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:31778907C>A	ENST00000375654.4	-	2	1032	c.843G>T	c.(841-843)caG>caT	p.Q281H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q281H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	281					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGGTTGGCCTGGGTGCTGG	0.522																																						uc003nxh.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(841-843)caG>caT		Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.							67	74	72					6																	31778907		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31778907C>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.843G>T	6.37:g.31778907C>A	ENSP00000364805:p.Gln281His					HSPA1L_uc010jte.3_Missense_Mutation_p.Q281H|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q281H	p.Q281H	NM_005527	NP_005518	P34931	HS71L_HUMAN			1	1026	-			281					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.843G>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081147	0.55753	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.10099	2.91;2.91	5.4	3.48	0.39840	.	0.000000	0.33040	N	0.005355	T	0.40067	0.1102	H	0.99238	4.48	0.58432	D	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.58696	-0.7591	10	0.87932	D	0	-5.8395	9.3831	0.38327	0.0:0.815:0.0:0.185	.	281	P34931	HS71L_HUMAN	H	281;281;226;171	ENSP00000364805:Q281H;ENSP00000387691:Q281H	ENSP00000364804:Q226H	Q	-	3	2	HSPA1L	31886886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.642000	0.37207	1.514000	0.48869	0.585000	0.79938	CAG		0.522	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			A	31778907	C	A	31778907	3	1	176	1	0	0	0	0	1	0	0	0	7410	680	24	5	1086	5	HSPA1L	6	31778907	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		31778907	139336160	21	12465											
PKHD1	5314	broad.mit.edu	37	chr6	51484145	51484145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtacacctgctgagcagGagcacctggagcacagatgt	11	6	13	11	0	0	2	0	1	0	1	0	4	0	4	2	3	5	5	2	3	1	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:51484145G>C	ENST00000371117.3	-	67	12234	c.11959C>G	c.(11959-11961)Cct>Gct	p.P3987A	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3987					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCTGAGCAGGAGCACCTGGA	0.572																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11959-11961)Cct>Gct		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							87	80	83					6																	51484145		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484145G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11959C>G	6.37:g.51484145G>C	ENSP00000360158:p.Pro3987Ala						p.P3987A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			66	12235	-	Lung NSC(77;0.0605)		3987					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11959C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154543	0.21371	.	.	ENSG00000170927	ENST00000371117	D	0.86230	-2.09	5.06	1.16	0.20824	.	0.636452	0.14062	N	0.343971	T	0.68522	0.3010	M	0.62723	1.935	0.09310	N	1	B	0.29378	0.243	B	0.27380	0.079	T	0.57694	-0.7767	10	0.34782	T	0.22	.	4.6484	0.12584	0.2722:0.1595:0.5683:0.0	.	3987	P08F94	PKHD1_HUMAN	A	3987	ENSP00000360158:P3987A	ENSP00000360158:P3987A	P	-	1	0	PKHD1	51592104	0.105000	0.21958	0.016000	0.15963	0.363000	0.29612	0.533000	0.23082	-0.006000	0.14370	-0.136000	0.14681	CCT		0.572	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51484145	G	C	51484145	3	2	176	1	0	0	0	0	1	0	0	0	11971	1174	41	5	269	5	PKHD1	6	51484145	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	19705238	51484145	119630922	22	12466											
MTHFD1L	25902	broad.mit.edu	37	chr6	151281413	151281413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgggctggttcaggcGcagtttgacatcgcagtggc	5	12	16	8	2	1	1	1	1	0	0	2	1	1	1	0	4	0	6	0	4	0	3	rs146093887		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:151281413G>A	ENST00000367321.3	+	18	2080	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	602	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTCAGGCGCAGTTTGACA	0.612													G|||	1	0.000199681	0	0	5008	,	,		20452	0		0.001	False		,,,				2504	0					uc021zgs.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1807-1809)gcG>gcA		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		G	,,	0,4406		0,0,2203	79	71	73		1809,1611,1806	-11.6	0.2	6	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	603/980,537/914,602/979	151281413	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151281413G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1806G>A	6.37:g.151281413G>A						MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.A602A|MTHFD1L_uc021zgt.1_Silent_p.A537A|MTHFD1L_uc003qoc.3_Silent_p.A550A	p.A603A	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	17	1953	+		Ovarian(120;0.128)	602			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.1809G>A	CCDS5228.1																																																																																				0.612	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		A	151281413	G	A	151281413	2	1	176	1	0	0	0	0	0	0	0	1	9928	1074	38	1		1	MTHFD1L	6	151281413	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	99797268	151281413	19833654	23	12467											
PCLO	27445	broad.mit.edu	37	chr7	82785272	82785272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgccatcctgctgaagcgGatccctaccaggtccttgct	7	10	10	14	1	0	1	0	1	0	0	3	2	3	2	5	2	5	2	5	2	2	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:82785272G>T	ENST00000333891.9	-	2	1022	c.685C>A	c.(685-687)Ccg>Acg	p.P229T	PCLO_ENST00000423517.2_Missense_Mutation_p.P229T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGAAGCGGATCCCTACCA	0.463																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(685-687)Ccg>Acg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							122	114	117					7																	82785272		1927	4131	6058	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785272G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.685C>A	7.37:g.82785272G>T	ENSP00000334319:p.Pro229Thr					PCLO_uc003uhv.2_Missense_Mutation_p.P229T	p.P229T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	974	-			229			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.685C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	4.103	0.017146	0.07959	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.13196	2.62;2.61	5.48	1.26	0.21427	.	.	.	.	.	T	0.06188	0.0160	N	0.11201	0.11	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.36311	-0.9753	9	0.87932	D	0	.	0.8779	0.01228	0.1782:0.2281:0.3289:0.2649	.	229;229	Q9Y6V0-5;Q9Y6V0-6	.;.	T	229	ENSP00000334319:P229T;ENSP00000388393:P229T	ENSP00000334319:P229T	P	-	1	0	PCLO	82623208	0.000000	0.05858	0.002000	0.10522	0.244000	0.25665	-0.045000	0.12003	0.666000	0.31087	0.655000	0.94253	CCG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82785272	G	T	82785272	3	4	176	1	0	0	0	0	1	0	0	0	11583	1174	41	5	14856	5	PCLO	7	82785272	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		82785272	76353391	24	12468											
TFPI2	7980	broad.mit.edu	37	chr7	93519537	93519537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccgtacaggaactggcgGcagctctgcgtgtacctgtc	6	8	12	15	3	1	0	0	0	1	0	2	1	1	1	3	3	5	4	3	3	3	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:93519537G>A	ENST00000222543.5	-	2	495	c.183C>T	c.(181-183)tgC>tgT	p.C61C	GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Silent_p.C61C	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	61	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GGAACTGGCGGCAGCTCTGCG	0.577																																						uc003umy.1																			0		p.C61Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(181-183)tgC>tgT		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							36	39	38					7																	93519537		2203	4300	6503	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519537G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.183C>T	7.37:g.93519537G>A						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C	p.C61C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		1	258	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		61			BPTI/Kunitz inhibitor 1.		Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.183C>T	CCDS5632.1																																																																																				0.577	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		A	93519537	G	A	93519537	2	1	176	1	0	0	0	0	0	0	0	1	15806	1195	42	3		3	TFPI2	7	93519537	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	10734265	93519537	65619126	25	12469											
MOGAT3	346606	broad.mit.edu	37	chr7	100841600	100841600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctgcccgagctggggCtgggacaggatgaagtccag	8	5	17	11	2	0	1	0	1	0	0	1	4	1	3	3	5	2	2	3	5	1	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:100841600C>T	ENST00000223114.4	-	5	706	c.540G>A	c.(538-540)caG>caA	p.Q180Q	MOGAT3_ENST00000440203.2_Silent_p.Q180Q|MOGAT3_ENST00000379423.3_Silent_p.Q180Q	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	180					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAGCTGGGGCTGGGACAGGA	0.657																																						uc003uyc.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(538-540)caG>caA		Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.							40	43	42					7																	100841600		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841600C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.540G>A	7.37:g.100841600C>T						MOGAT3_uc010lhr.3_Silent_p.Q180Q	p.Q180Q	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			4	707	-	Lung NSC(181;0.168)|all_lung(186;0.215)		180					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.540G>A	CCDS5714.1																																																																																				0.657	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		T	100841600	C	T	100841600	2	4	176	1	0	0	0	0	0	0	0	1	9696	796	28	3		3	MOGAT3	7	100841600	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	7322063	100841600	58297063	26	12470											
KCNU1	157855	broad.mit.edu	37	chr8	36661576	36661576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgtactaagcattgggtCtcttataatctatttcatca	10	18	5	8	0	4	0	2	0	2	0	5	0	4	0	0	1	2	2	0	1	5	8			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:36661576C>G	ENST00000399881.3	+	3	384	c.347C>G	c.(346-348)tCt>tGt	p.S116C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	116					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTGGGTCTCTTATAATC	0.358																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(346-348)tCt>tGt		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							169	151	157					8																	36661576		1862	4089	5951	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36661576C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.347C>G	8.37:g.36661576C>G	ENSP00000382770:p.Ser116Cys					KCNU1_uc003xjw.2_Non-coding_Transcript	p.S116C	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	434	+			116						Missense_Mutation	SNP	ENST00000399881.3	37	c.347C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797379	0.50208	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.50548	0.74;0.74	5.22	5.22	0.72569	.	0.210068	0.29438	U	0.012141	T	0.67202	0.2868	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.69873	-0.5027	10	0.87932	D	0	-4.2238	16.0878	0.81070	0.0:1.0:0.0:0.0	.	116	A8MYU2	KCNU1_HUMAN	C	116	ENSP00000429951:S116C;ENSP00000382770:S116C	ENSP00000382770:S116C	S	+	2	0	KCNU1	36780734	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	3.985000	0.56930	2.607000	0.88179	0.655000	0.94253	TCT		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		G	36661576	C	G	36661576	3	3	176	1	0	0	0	0	1	0	0	0	8093	913	32	5	357	5	KCNU1	8	36661576	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		36661576	109702446	27	12471											
SNX16	64089	broad.mit.edu	37	chr8	82714627	82714627	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatacctagattcttcaTccaggacatcttgatcaacc	12	14	4	11	0	4	2	2	1	2	1	5	3	5	3	3	1	2	0	3	1	5	7			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:82714627T>A	ENST00000345957.4	-	7	1204	c.926A>T	c.(925-927)gAt>gTt	p.D309V	RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_Missense_Mutation_p.D309V|SNX16_ENST00000353788.4_Missense_Mutation_p.D280V	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	309				LDEE -> WMR (in Ref. 1; AAG25676). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGATTCTTCATCCAGGACATC	0.343																																						uc003ycn.3																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(925-927)gAt>gTt		Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.							78	77	77					8																	82714627		2203	4300	6503	SO:0001583	missense	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82714627T>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.926A>T	8.37:g.82714627T>A	ENSP00000322652:p.Asp309Val					SNX16_uc003yco.3_Missense_Mutation_p.D280V|SNX16_uc011lft.2_Missense_Mutation_p.D309V	p.D309V	NM_152836	NP_690049	P57768	SNX16_HUMAN			6	1187	-			309	LDEE -> WMR (in Ref. 1; AAG25676).				A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	c.926A>T	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524127	0.44866	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957	T;T;T	0.51817	0.78;0.69;0.69	5.76	4.58	0.56647	.	0.199790	0.51477	D	0.000086	T	0.40498	0.1119	M	0.62723	1.935	0.53005	D	0.999961	P;P	0.36577	0.558;0.52	B;B	0.33042	0.107;0.157	T	0.31943	-0.9925	10	0.45353	T	0.12	-12.2211	6.9129	0.24344	0.0:0.0809:0.1521:0.767	.	280;309	Q658L0;P57768	.;SNX16_HUMAN	V	280;309;309	ENSP00000322631:D280V;ENSP00000379621:D309V;ENSP00000322652:D309V	ENSP00000322652:D309V	D	-	2	0	SNX16	82877182	0.932000	0.31603	0.969000	0.41365	0.925000	0.55904	0.177000	0.16801	1.084000	0.41184	0.528000	0.53228	GAT		0.343	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		A	82714627	T	A	82714627	3	1	176	1	0	0	0	0	1	0	0	0	14887	1435	50	5	116	5	SNX16	8	82714627	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	46053051	82714627	63649395	28	12472											
TAF1L	138474	broad.mit.edu	37	chr9	32635178	32635178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatcataatccgagtggtAaaggggctgcaagctcccca	11	9	10	11	1	2	0	2	0	0	0	4	1	4	0	3	3	2	4	3	3	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:32635178A>G	ENST00000242310.4	-	1	489	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	134					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCGAGTGGTAAAGGGGCTGC	0.478																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(400-402)Tac>Cac		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							282	247	259					9																	32635178		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635178A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.400T>C	9.37:g.32635178A>G	ENSP00000418379:p.Tyr134His					AX747113_uc003zrh.1_Intron	p.Y134H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	490	-			134					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.400T>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	3.391	-0.124339	0.06795	.	.	ENSG00000122728	ENST00000242310	T	0.07021	3.23	1.16	-2.32	0.06745	.	0.237430	0.43747	D	0.000531	T	0.03390	0.0098	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.28427	-1.0044	10	0.44086	T	0.13	.	6.365	0.21449	0.8038:0.0:0.1962:0.0	.	134	Q8IZX4	TAF1L_HUMAN	H	134	ENSP00000418379:Y134H	ENSP00000418379:Y134H	Y	-	1	0	TAF1L	32625178	0.012000	0.17670	0.782000	0.31804	0.052000	0.14988	-0.706000	0.05047	-1.450000	0.01936	-1.645000	0.00762	TAC		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			G	32635178	A	G	32635178	3	3	176	1	0	0	0	0	1	0	0	0	15520	362	13	4	5084	4	TAF1L	9	32635178	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		32635178	108578253	29	12473											
PIGO	84720	broad.mit.edu	37	chr9	35090223	35090223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctgctgtctcttcCgcagcccttgactctcacac	4	11	10	16	1	2	1	1	1	2	0	5	1	3	1	2	2	2	3	2	2	0	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:35090223C>T	ENST00000378617.3	-	9	3303	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	PIGO_ENST00000341666.3_Missense_Mutation_p.R970Q|PIGO_ENST00000361778.2_Missense_Mutation_p.R553Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R553Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	970					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGTCTCTTCCGCAGCCCTTG	0.607																																						uc003zwd.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2908-2910)cGg>cAg		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							54	52	52					9																	35090223		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090223C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2909G>A	9.37:g.35090223C>T	ENSP00000367880:p.Arg970Gln					PIGO_uc003zwe.3_Missense_Mutation_p.R553Q|PIGO_uc003zwf.3_Missense_Mutation_p.R553Q|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_3'UTR	p.R970Q	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	3305	-			970					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2909G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	c	6.837	0.523707	0.13066	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.25	-10.5	0.00291	.	1.969230	0.02517	N	0.092149	T	0.63920	0.2552	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.59043	-0.7528	10	0.16420	T	0.52	-0.0026	18.5741	0.91149	0.0:0.1054:0.0751:0.8195	.	553;970	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	553;970;970;553	ENSP00000298004:R553Q;ENSP00000367880:R970Q;ENSP00000339382:R970Q;ENSP00000354678:R553Q	ENSP00000298004:R553Q	R	-	2	0	PIGO	35080223	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-1.983000	0.01488	-2.814000	0.00346	-1.563000	0.00883	CGG		0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		T	35090223	C	T	35090223	3	4	176	1	0	0	0	0	1	0	0	0	11894	652	23	2	372	2	PIGO	9	35090223	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	2455045	35090223	106123208	30	12474											
NR4A3	8013	broad.mit.edu	37	chr9	102590645	102590645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccaccaccaccaccaTcaccagcagcagcatcagca	14	2	4	21	0	2	0	2	0	0	0	2	0	2	0	7	0	4	4	7	0	0	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:102590645T>C	ENST00000395097.2	+	3	1050	c.321T>C	c.(319-321)caT>caC	p.H107H	NR4A3_ENST00000338488.4_Silent_p.H107H|NR4A3_ENST00000330847.1_Silent_p.H118H	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	107	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaccaccatcaccaGCAGC	0.627			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc022bky.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(352-354)caT>caC		Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.							31	34	33					9																	102590645		2203	4300	6503	SO:0001819	synonymous_variant	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590645T>C	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.321T>C	9.37:g.102590645T>C						NR4A3_uc004bae.3_Silent_p.H107H|NR4A3_uc004baf.1_Silent_p.H107H	p.H118H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN			3	1122	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	107					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.354T>C	CCDS6743.1																																																																																				0.627	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			C	102590645	T	C	102590645	2	2	176	1	0	0	0	0	0	0	0	1	10634	1432	50	4		4	NR4A3	9	102590645	Silent	SNP	T	TCGA-26-5134-01A-01D-1486-08	67500422	102590645	38622786	31	12475											
ERCC6	2074	broad.mit.edu	37	chr10	50690803	50690803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctccataaacacaggcAacgtgcctaactttcccggg	11	8	8	14	2	0	0	0	0	0	0	2	0	2	0	3	2	5	2	3	2	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:50690803A>G	ENST00000355832.5	-	10	2177	c.2099T>C	c.(2098-2100)tTg>tCg	p.L700S	ERCC6_ENST00000542458.1_Missense_Mutation_p.L70S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	700					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACACAGGCAACGTGCCTAA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2098-2100)tTg>tCg	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							102	93	96					10																	50690803		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690803A>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2099T>C	10.37:g.50690803A>G	ENSP00000348089:p.Leu700Ser					ERCC6_uc010qgr.2_Missense_Mutation_p.L70S|ERCC6_uc001jhr.4_Missense_Mutation_p.L100S	p.L700S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			9	2253	-			700					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2099T>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622536	0.87460	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.92858	-3.12;-3.12	5.68	5.68	0.88126	DEAD-like helicase (1);SNF2-related (1);	.	.	.	.	D	0.94892	0.8349	M	0.64080	1.96	0.58432	D	0.999991	D;D	0.76494	0.999;0.975	D;P	0.68943	0.961;0.893	D	0.95315	0.8415	9	0.87932	D	0	-15.33	14.5033	0.67737	1.0:0.0:0.0:0.0	.	700;109	Q03468;Q59FF6	ERCC6_HUMAN;.	S	700;109;70	ENSP00000348089:L700S;ENSP00000445134:L70S	ENSP00000348089:L700S	L	-	2	0	ERCC6	50360809	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	9.312000	0.96287	2.175000	0.68902	0.533000	0.62120	TTG		0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		G	50690803	A	G	50690803	3	3	176	1	0	0	0	0	1	0	0	0	5217	131	5	4	2430	4	ERCC6	10	50690803	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		50690803	84843944	32	12476											
NOC3L	64318	broad.mit.edu	37	chr10	96099659	96099659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcactggagtacaatctcaAcaccttcattggtagcacct	11	10	8	12	0	2	0	2	0	1	0	3	1	2	1	2	3	3	4	2	3	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:96099659A>G	ENST00000371361.3	-	17	1899	c.1799T>C	c.(1798-1800)gTt>gCt	p.V600A	NOC3L_ENST00000543788.1_Missense_Mutation_p.V338A|NOC3L_ENST00000371350.1_Missense_Mutation_p.V600A	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	600					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TACAATCTCAACACCTTCATT	0.433																																						uc001kjq.1																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(1798-1800)gTt>gCt		Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.							84	79	81					10																	96099659		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96099659A>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1799T>C	10.37:g.96099659A>G	ENSP00000360412:p.Val600Ala						p.V600A	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			16	1887	-		Colorectal(252;0.0897)	600					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.1799T>C	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347213	0.41599	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.19250	2.16;2.16;2.16	5.5	5.5	0.81552	CCAAT-binding factor (1);	0.450054	0.25798	N	0.028227	T	0.10380	0.0254	N	0.13272	0.32	0.22378	N	0.999151	B	0.10296	0.003	B	0.14578	0.011	T	0.32161	-0.9917	10	0.02654	T	1	-11.2391	10.2827	0.43550	0.9263:0.0:0.0737:0.0	.	600	Q8WTT2	NOC3L_HUMAN	A	338;600;600	ENSP00000437838:V338A;ENSP00000360412:V600A;ENSP00000360401:V600A	ENSP00000360401:V600A	V	-	2	0	NOC3L	96089649	0.995000	0.38212	0.720000	0.30636	0.988000	0.76386	5.002000	0.63952	2.226000	0.72624	0.459000	0.35465	GTT		0.433	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		G	96099659	A	G	96099659	3	3	176	1	0	0	0	0	1	0	0	0	10514	43	2	4	623	4	NOC3L	10	96099659	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	45408856	96099659	39435088	33	12477											
OR4A16	81327	broad.mit.edu	37	chr11	55111268	55111268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttataggactcactgtgGttgccaatggtggaataatt	11	14	10	6	0	1	0	1	0	0	0	1	2	1	2	1	4	1	1	1	4	5	6	rs570625324	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55111268G>T	ENST00000314721.2	+	1	642	c.592G>T	c.(592-594)Gtt>Ttt	p.V198F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTCACTGTGGTTGCCAATGG	0.428													.|||	2	0.000399361	0	0	5008	,	,		21262	0		0	False		,,,				2504	0.002					uc010rie.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(592-594)Gtt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.							266	236	246					11																	55111268		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111268G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.592G>T	11.37:g.55111268G>T	ENSP00000325128:p.Val198Phe						p.V198F	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			0	592	+			198					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.592G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	6.983	0.551361	0.13374	.	.	ENSG00000181961	ENST00000314721	T	0.00076	8.76	2.54	-0.684	0.11331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.04387	-0.21	0.09310	N	1	D	0.53151	0.958	P	0.61070	0.883	T	0.52525	-0.8564	9	0.72032	D	0.01	.	4.1468	0.10220	0.2706:0.2004:0.5289:0.0	.	198	Q8NH70	O4A16_HUMAN	F	198	ENSP00000325128:V198F	ENSP00000325128:V198F	V	+	1	0	OR4A16	54867844	0.000000	0.05858	0.135000	0.22099	0.032000	0.12392	-2.818000	0.00751	-0.010000	0.14271	0.423000	0.28283	GTT		0.428	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		T	55111268	G	T	55111268	3	4	176	1	0	0	0	0	1	0	0	0	11041	1261	44	5	594	5	OR4A16	11	55111268	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		55111268	79895248	34	12478											
OR5I1	10798	broad.mit.edu	37	chr11	55703585	55703585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaactgcagggcacaccCataataggaaatagatttgt	17	9	8	7	0	0	1	0	0	0	1	0	2	0	2	1	2	2	2	1	2	6	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55703585C>A	ENST00000301532.3	-	1	291	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	98					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGGCACACCCATAATAGGAA	0.428																																						uc010ris.2																			0		p.G98V(1)|p.G98G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(292-294)Ggg>Tgg		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							39	40	40					11																	55703585		2199	4294	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703585C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.292G>T	11.37:g.55703585C>A	ENSP00000301532:p.Gly98Trp						p.G98W	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	292	-			98					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.292G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617215	0.28801	.	.	ENSG00000167825	ENST00000301532	T	0.10099	2.91	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.153361	0.31010	N	0.008425	T	0.39384	0.1076	M	0.88031	2.925	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.35871	-0.9771	10	0.87932	D	0	.	15.8148	0.78592	0.0:1.0:0.0:0.0	.	98	Q13606	OR5I1_HUMAN	W	98	ENSP00000301532:G98W	ENSP00000301532:G98W	G	-	1	0	OR5I1	55460161	0.001000	0.12720	0.308000	0.25141	0.213000	0.24496	1.491000	0.35583	2.385000	0.81259	0.637000	0.83480	GGG		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		A	55703585	C	A	55703585	3	1	176	1	0	0	0	0	1	0	0	0	11164	594	21	5	655	5	OR5I1	11	55703585	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	592317	55703585	79302931	35	12479											
OR8K3	219473	broad.mit.edu	37	chr11	56085869	56085869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcaccattatttgcAttgttcctcatgatctatgt	8	16	7	10	0	2	1	1	1	1	0	3	1	3	1	2	1	2	4	2	1	2	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:56085869A>G	ENST00000312711.1	+	1	87	c.87A>G	c.(85-87)gcA>gcG	p.A29A		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATTATTTGCATTGTTCCTCA	0.433																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(85-87)gcA>gcG		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							199	179	186					11																	56085869		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085869A>G	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.87A>G	11.37:g.56085869A>G							p.A29A	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	87	+	Esophageal squamous(21;0.00448)		29					Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.87A>G	CCDS31527.1																																																																																				0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		G	56085869	A	G	56085869	2	3	176	1	0	0	0	0	0	0	0	1	11244	204	8	4		4	OR8K3	11	56085869	Silent	SNP	A	TCGA-26-5134-01A-01D-1486-08	382284	56085869	78920647	36	12480											
C11orf2	738	broad.mit.edu	37	chr11	64876151	64876151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagatcgtggaacgagtggCccgcgagcgcctgggccacc	7	4	17	13	5	0	1	0	0	0	1	1	5	0	2	4	4	2	0	4	4	1	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:64876151C>T	ENST00000279281.3	+	5	1300	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	403					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GAACGAGTGGCCCGCGAGCGC	0.761																																						uc001ocr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						c.(1207-1209)gCc>gTc		Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.							4	5	5					11																	64876151		1766	3725	5491	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64876151C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1208C>T	11.37:g.64876151C>T	ENSP00000279281:p.Ala403Val					C11orf2_uc001ocs.1_Missense_Mutation_p.A279V	p.A403V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			4	1248	+			403					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1208C>T	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079317	0.76528	.	.	ENSG00000149823	ENST00000279281	.	.	.	5.19	5.19	0.71726	Cullin repeat-like-containing domain (1);	0.106739	0.64402	D	0.000006	T	0.74313	0.3700	M	0.71581	2.175	0.80722	D	1	D	0.60160	0.987	P	0.57776	0.827	T	0.75448	-0.3314	8	.	.	.	-28.6858	16.2194	0.82247	0.0:1.0:0.0:0.0	.	403	Q9UID3	FFR_HUMAN	V	403	.	.	A	+	2	0	C11orf2	64632727	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.551000	0.82182	2.420000	0.82092	0.549000	0.68633	GCC		0.761	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		T	64876151	C	T	64876151	3	4	176	1	0	0	0	0	1	0	0	0	1633	739	26	3	1226	3	C11orf2	11	64876151	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	8790282	64876151	70130365	37	12481											
OR8D4	338662	broad.mit.edu	37	chr11	123777373	123777373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctattcttctgtcattaccCctaaaatgctatcagggttt	9	16	6	10	0	4	0	2	0	2	0	4	0	4	0	2	1	2	3	2	1	5	7			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:123777373C>A	ENST00000321355.2	+	1	265	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTCATTACCCCTAAAATGCT	0.358																																						uc010saa.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(235-237)Cct>Act		Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.							258	256	256					11																	123777373		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777373C>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.235C>A	11.37:g.123777373C>A	ENSP00000325381:p.Pro79Thr						p.P79T	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	0	235	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	79					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.235C>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812808	0.70912	.	.	ENSG00000181518	ENST00000321355	T	0.01854	4.6	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.24275	0.0588	H	0.96691	3.865	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.31586	-0.9938	10	0.87932	D	0	.	18.8542	0.92244	0.0:1.0:0.0:0.0	.	79	Q8NGM9	OR8D4_HUMAN	T	79	ENSP00000325381:P79T	ENSP00000325381:P79T	P	+	1	0	OR8D4	123282583	0.999000	0.42202	0.910000	0.35882	0.513000	0.34164	5.890000	0.69774	2.744000	0.94065	0.655000	0.94253	CCT		0.358	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		A	123777373	C	A	123777373	3	1	176	1	0	0	0	0	1	0	0	0	11233	623	22	5	237	5	OR8D4	11	123777373	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	58901222	123777373	11229143	38	12482											
VSIG2	23584	broad.mit.edu	37	chr11	124618351	124618351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttctggaacctgaccagGcagaacgcagcaactgacag	12	7	10	12	1	2	3	0	2	2	1	2	4	2	4	2	2	4	3	2	2	3	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:124618351G>A	ENST00000326621.5	-	6	886	c.786C>T	c.(784-786)tgC>tgT	p.C262C	VSIG2_ENST00000403470.1_Silent_p.C262C|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	262						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCTGACCAGGCAGAACGCAG	0.617																																						uc001qas.3																			0		p.F261F(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(784-786)tgC>tgT		Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.							110	98	102					11																	124618351		2201	4299	6500	SO:0001819	synonymous_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124618351G>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.786C>T	11.37:g.124618351G>A						VSIG2_uc001qat.3_Silent_p.C262C	p.C262C	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	5	862	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	262					O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	c.786C>T	CCDS8452.1																																																																																				0.617	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		A	124618351	G	A	124618351	2	1	176	1	0	0	0	0	0	0	0	1	17221	1195	42	3		3	VSIG2	11	124618351	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	840978	124618351	10388165	39	12483											
CD163L1	283316	broad.mit.edu	37	chr12	7527492	7527492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagatacatttgcgaggCatggaaacagtggctgggtc	10	9	15	7	1	1	1	1	0	0	1	2	3	1	2	0	5	3	2	0	5	2	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:7527492C>A	ENST00000313599.3	-	12	3086	c.3029G>T	c.(3028-3030)tGc>tTc	p.C1010F	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.C1020F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C1010F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1010						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTGCGAGGCATGGAAACAG	0.463											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3058-3060)tGc>tTc		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							78	73	75					12																	7527492		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527492C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3029G>T	12.37:g.7527492C>A	ENSP00000315945:p.Cys1010Phe		OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_uc001qsy.3_Missense_Mutation_p.C1010F	p.C1020F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			11	3085	-			1010					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3059G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023103	0.35701	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.01527	4.81;4.81;4.8	3.4	1.33	0.21861	.	1.796050	0.03261	U	0.183305	T	0.07369	0.0186	L	0.59436	1.845	0.09310	N	1	D;D	0.69078	0.964;0.997	B;D	0.65010	0.445;0.931	T	0.23404	-1.0189	10	0.52906	T	0.07	.	6.2521	0.20852	0.2102:0.5852:0.2046:0.0	.	1020;1010	E7EVK4;Q9NR16	.;C163B_HUMAN	F	1010;1020;1010	ENSP00000315945:C1010F;ENSP00000393474:C1020F;ENSP00000379871:C1010F	ENSP00000315945:C1010F	C	-	2	0	CD163L1	7418759	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.336000	0.07863	0.156000	0.19299	0.456000	0.33151	TGC		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7527492	C	A	7527492	3	1	176	1	0	0	0	0	1	0	0	0	2968	710	25	5	1364	5	CD163L1	12	7527492	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		7527492	126324403	40	12484											
SFRS2IP	9169	broad.mit.edu	37	chr12	46357935	46357935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccatatttagggtacataCagttttcttcttcatttctc	8	19	4	10	0	4	0	1	0	3	0	6	0	5	0	1	1	2	2	1	1	4	10			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:46357935C>T	ENST00000369367.3	-	2	249	c.16G>A	c.(16-18)Gta>Ata	p.V6I	SCAF11_ENST00000419565.2_Missense_Mutation_p.V6I|SCAF11_ENST00000395453.2_Missense_Mutation_p.V6I|SCAF11_ENST00000395454.2_Missense_Mutation_p.V6I	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	6					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGGGTACATACAGTTTTCTTC	0.279																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(16-18)Gta>Ata		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.							86	80	82					12																	46357935		1784	4051	5835	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46357935C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.16G>A	12.37:g.46357935C>T	ENSP00000358374:p.Val6Ile					SCAF11_uc001roy.1_Missense_Mutation_p.V70I|SCAF11_uc009zki.1_Non-coding_Transcript|SCAF11_uc001roz.3_Missense_Mutation_p.V6I	p.V6I	NM_004719	NP_004710	Q99590	SCAFB_HUMAN			1	303	-			6					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.16G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903400	0.17760	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.92	-1.29	0.09288	.	2.721200	0.02482	N	0.088614	T	0.26919	0.0659	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.06625	-1.0816	10	0.24483	T	0.36	-1.0359	1.8217	0.03112	0.1178:0.1943:0.3382:0.3498	.	6;6	A8MUK0;Q99590	.;SCAFB_HUMAN	I	6;6;22;6;6	ENSP00000358374:V6I;ENSP00000413036:V6I;ENSP00000266589:V22I;ENSP00000378840:V6I;ENSP00000378839:V6I	ENSP00000266589:V22I	V	-	1	0	SCAF11	44644202	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-1.089000	0.03376	-0.107000	0.12088	0.561000	0.74099	GTA		0.279	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		T	46357935	C	T	46357935	3	4	176	1	0	0	0	0	1	0	0	0	14177	478	17	3	4431	3	SFRS2IP	12	46357935	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	38830443	46357935	87493960	41	12485											
GRIP1	23426	broad.mit.edu	37	chr12	66773075	66773075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccactggctgtggacCggtcccagtcttcataactc	7	11	8	15	1	2	0	1	0	1	0	4	1	3	1	3	3	2	1	3	3	2	3	rs145115262	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:66773075C>T	ENST00000398016.3	-	19	2518	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.R869Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.R869Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGCTGTGGACCGGTCCCAGTC	0.517													C|||	15	0.00299521	8e-04	0.0058	5008	,	,		17397	0.003		0.007	False		,,,				2504	0					uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2449-2451)cGg>cAg		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	9,3877		0,9,1934	169	165	166		2450,2450	2	1	12	dbSNP_134	166	69,8193		0,69,4062	yes	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	43,43	0,78,5996	TT,TC,CC		0.8351,0.2316,0.6421	benign,benign	817/1062,817/1077	66773075	78,12070	1943	4131	6074	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66773075C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2450G>A	12.37:g.66773075C>T	ENSP00000381098:p.Arg817Gln					GRIP1_uc010sta.1_Missense_Mutation_p.R761Q|GRIP1_uc001stj.3_Missense_Mutation_p.R599Q|GRIP1_uc001stm.3_Missense_Mutation_p.R817Q|GRIP1_uc001stl.1_Missense_Mutation_p.R709Q	p.R817Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	18	2691	-			869					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2450G>A	CCDS41807.1	6|6	0.0027472527472527475|0.0027472527472527475	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	5|5	0.006596306068601583|0.006596306068601583	C|C	13.77|13.77	2.337222|2.337222	0.41398|0.41398	0.002316|0.002316	0.008351|0.008351	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.81415	.|-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.8|4.8	1.95|1.95	0.26073|0.26073	.|.	.|0.233910	.|0.42294	.|N	.|0.000731	T|T	0.69178|0.69178	0.3082|0.3082	M|M	0.62723|0.62723	1.935|1.935	0.44129|0.44129	D|D	0.996911|0.996911	.|P;P;P;D	.|0.54397	.|0.911;0.88;0.956;0.966	.|B;B;B;B	.|0.43018	.|0.173;0.108;0.297;0.405	T|T	0.69124|0.69124	-0.5228|-0.5228	5|9	.|.	.|.	.|.	-5.1095|-5.1095	9.3305|9.3305	0.38018|0.38018	0.0:0.7035:0.0:0.2965|0.0:0.7035:0.0:0.2965	.|.	.|817;869;817;869	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	S|Q	684|817;869;869;817;761;709	.|ENSP00000381098:R817Q;ENSP00000352780:R869Q;ENSP00000286445:R869Q;ENSP00000446047:R817Q;ENSP00000446024:R761Q;ENSP00000446011:R709Q	.|.	G|R	-|-	1|2	0|0	GRIP1|GRIP1	65059342|65059342	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.988000|0.988000	0.76386|0.76386	2.867000|2.867000	0.48428|0.48428	0.317000|0.317000	0.23160|0.23160	-0.258000|-0.258000	0.10820|0.10820	GGT|CGG		0.517	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66773075	C	T	66773075	3	4	176	1	0	0	0	0	1	0	0	0	6787	652	23	2	804	2	GRIP1	12	66773075	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	20415140	66773075	67078820	42	12486											
LRRC43	254050	broad.mit.edu	37	chr12	122672375	122672375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggaaagtctctacgtcaCcgctaatcactggtaactcg	10	11	8	12	3	3	0	2	0	1	0	5	1	3	1	1	2	2	2	1	2	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:122672375C>T	ENST00000339777.4	+	4	678	c.650C>T	c.(649-651)aCc>aTc	p.T217I	LRRC43_ENST00000425921.1_Missense_Mutation_p.T32I	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	217										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTACGTCACCGCTAATCAC	0.562																																						uc009zxm.3																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(649-651)aCc>aTc		Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.							59	60	60					12																	122672375		1932	4133	6065	SO:0001583	missense	254050							g.chr12:122672375C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.650C>T	12.37:g.122672375C>T	ENSP00000344233:p.Thr217Ile					LRRC43_uc001ubw.4_Missense_Mutation_p.T32I|LRRC43_uc009zxn.3_5'Flank|LRRC43_uc009zxl.1_Non-coding_Transcript	p.T217I	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	3	675	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		217					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.650C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053464	0.75960	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.22134	1.97;1.97;1.97	4.63	4.63	0.57726	.	0.142257	0.45867	D	0.000339	T	0.40448	0.1117	L	0.51422	1.61	0.40389	D	0.97952	D	0.76494	0.999	D	0.68943	0.961	T	0.21314	-1.0249	10	0.44086	T	0.13	-32.6884	17.4427	0.87569	0.0:1.0:0.0:0.0	.	217	Q8N309	LRC43_HUMAN	I	32;217;32;32	ENSP00000438751:T32I;ENSP00000344233:T217I;ENSP00000416628:T32I	ENSP00000289014:T32I	T	+	2	0	LRRC43	121238328	0.999000	0.42202	0.660000	0.29694	0.006000	0.05464	5.340000	0.65958	2.252000	0.74401	0.561000	0.74099	ACC		0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		T	122672375	C	T	122672375	3	4	176	1	0	0	0	0	1	0	0	0	9001	507	18	3	664	3	LRRC43	12	122672375	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	55899300	122672375	11179520	43	12487											
NBEA	26960	broad.mit.edu	37	chr13	35685025	35685025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccatacgcagagtaGgaacagtattacagctaatg	16	7	8	10	1	0	1	0	0	0	1	0	2	0	2	2	1	4	4	2	1	6	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:35685025G>C	ENST00000400445.3	+	13	2446	c.1912G>C	c.(1912-1914)Gga>Cga	p.G638R	NBEA_ENST00000379939.2_Missense_Mutation_p.G638R|NBEA_ENST00000310336.4_Missense_Mutation_p.G638R|NBEA_ENST00000540320.1_Missense_Mutation_p.G638R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	638					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGCAGAGTAGGAACAGTATT	0.368																																						uc021rid.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1912-1914)Gga>Cga		Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.							79	75	77					13																	35685025		1884	4107	5991	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35685025G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1912G>C	13.37:g.35685025G>C	ENSP00000383295:p.Gly638Arg					NBEA_uc021ric.1_Missense_Mutation_p.G638R	p.G638R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	12	2446	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	638					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1912G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128583	0.77549	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59669	-0.7411	10	0.27785	T	0.31	.	18.1255	0.89584	0.0:0.0:1.0:0.0	.	638	Q5T321	.	R	638	ENSP00000440951:G638R;ENSP00000383295:G638R;ENSP00000369271:G638R;ENSP00000308534:G638R	ENSP00000308534:G638R	G	+	1	0	NBEA	34583025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.009000	0.88606	2.282000	0.76494	0.655000	0.94253	GGA		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	35685025	G	C	35685025	3	2	176	1	0	0	0	0	1	0	0	0	10187	1001	35	5	1962	5	NBEA	13	35685025	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		35685025	79484853	44	12488											
OR4K2	390431	broad.mit.edu	37	chr14	20344857	20344857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtgtgtgttgctcTcgtggtggcttcctggatta	3	15	13	10	1	1	0	0	0	1	0	4	1	3	1	3	4	1	3	3	4	1	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:20344857T>C	ENST00000298642.2	+	1	467	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTCTCGTGGTGGCT	0.463																																						uc001vwh.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(430-432)cTc>cCc		Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.							297	296	296					14																	20344857		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344857T>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.431T>C	14.37:g.20344857T>C	ENSP00000298642:p.Leu144Pro						p.L144P	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	431	+	all_cancers(95;0.00108)		144					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.431T>C	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.795412	0.31777	.	.	ENSG00000165762	ENST00000298642	T	0.45276	0.9	5.12	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.591665	0.14305	N	0.328022	T	0.71592	0.3358	H	0.96604	3.85	0.09310	N	0.999996	D	0.76494	0.999	D	0.75484	0.986	T	0.60717	-0.7208	10	0.87932	D	0	.	6.8151	0.23826	0.1494:0.0:0.1556:0.6949	.	144	Q8NGD2	OR4K2_HUMAN	P	144	ENSP00000298642:L144P	ENSP00000298642:L144P	L	+	2	0	OR4K2	19414697	0.267000	0.24122	0.132000	0.22025	0.549000	0.35272	3.154000	0.50693	0.929000	0.37192	0.460000	0.39030	CTC		0.463	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			C	20344857	T	C	20344857	3	2	176	1	0	0	0	0	1	0	0	0	11072	1551	54	4	433	4	OR4K2	14	20344857	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08		20344857	87004683	45	12489											
PCNX	22990	broad.mit.edu	37	chr14	71540387	71540387	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgctgcatttagccagCgatggctagcttgggaagtg	9	12	13	7	1	0	0	0	0	0	0	0	2	0	1	1	2	5	4	1	2	4	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:71540387C>T	ENST00000304743.2	+	27	5424	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.R1588*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.R1549*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1660						integral component of membrane (GO:0016021)		p.R1660*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTAGCCAGCGATGGCTAGC	0.438																																						uc001xmo.2																			1	Substitution - Nonsense(1)	p.R1660*(2)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4978-4980)Cga>Tga		Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.							237	208	218					14																	71540387		2203	4300	6503	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71540387C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4978C>T	14.37:g.71540387C>T	ENSP00000304192:p.Arg1660*					PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	p.R1660*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	26	5424	+			1660					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.4978C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848689	0.97023	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	4.97	4.08	0.47627	.	0.044134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5025	0.61465	0.0:0.9248:0.0:0.0752	.	.	.	.	X	1660;1588;1549	.	ENSP00000238570:R1588X	R	+	1	2	PCNX	70610140	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.278000	0.78587	1.457000	0.47850	0.650000	0.86243	CGA		0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		T	71540387	C	T	71540387	4	4	176	1	0	0	0	0	0	1	0	0	11591	760	27	1	5084	1	PCNX	14	71540387	Nonsense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	51195530	71540387	35809153	46	12490											
EML5	161436	broad.mit.edu	37	chr14	89168805	89168805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacctggcctgttgccacGtagtctttcaaaggatgaat	9	12	9	11	1	2	1	1	1	1	0	2	2	2	2	4	2	2	2	4	2	4	4	rs371578525		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:89168805G>A	ENST00000380664.5	-	14	2222	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	EML5_ENST00000554922.1_Silent_p.Y741Y|EML5_ENST00000352093.5_Silent_p.Y741Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	741						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCCACGTAGTCTTTCA	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		14776	0		0	False		,,,				2504	0					uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2221-2223)taC>taT		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.		G		2,3766		0,2,1882	88	81	83		2223	-2.2	1	14		83	0,8204		0,0,4102	no	coding-synonymous	EML5	NM_183387.2		0,2,5984	AA,AG,GG		0.0,0.0531,0.0167		741/1978	89168805	2,11970	1884	4102	5986	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89168805G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2223C>T	14.37:g.89168805G>A						EML5_uc021ryg.1_Silent_p.Y741Y|EML5_uc001xxh.1_5'UTR	p.Y741Y	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			13	2472	-			741					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2223C>T	CCDS45148.1																																																																																				0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89168805	G	A	89168805	2	1	176	1	0	0	0	0	0	0	0	1	5100	1140	40	1		1	EML5	14	89168805	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	17628418	89168805	18180735	47	12491											
AQR	9716	broad.mit.edu	37	chr15	35168164	35168164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagggataaaagtttctAtctccagaatctgagcagcc	14	9	10	8	0	3	3	0	1	3	2	4	5	3	4	2	1	2	2	2	1	5	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168164A>G	ENST00000156471.5	-	28	3434	c.3209T>C	c.(3208-3210)aTa>aCa	p.I1070T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1070					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAAGTTTCTATCTCCAGAAT	0.358																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3208-3210)aTa>aCa		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							100	97	98					15																	35168164		1826	4079	5905	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168164A>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3209T>C	15.37:g.35168164A>G	ENSP00000156471:p.Ile1070Thr						p.I1070T	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	27	3390	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1070					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3209T>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178566	0.78564	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82433	-1.61	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	M	0.80028	2.48	0.58432	D	0.999997	D	0.63046	0.992	D	0.68765	0.96	D	0.91990	0.5602	10	0.72032	D	0.01	-18.3903	14.7525	0.69536	1.0:0.0:0.0:0.0	.	1070	O60306	AQR_HUMAN	T	1070	ENSP00000156471:I1070T	ENSP00000156471:I1070T	I	-	2	0	AQR	32955456	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.333000	0.96459	1.880000	0.54463	0.528000	0.53228	ATA		0.358	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35168164	A	G	35168164	3	3	176	1	0	0	0	0	1	0	0	0	835	449	16	4	1280	4	AQR	15	35168164	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		35168164	67363228	48	12492			1	33		2	2	12	N	C_A	2.20305e-05
AQR	9716	broad.mit.edu	37	chr15	35168175	35168175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtttctatctccagaatCtgagcagcctcttccatcaa	12	12	5	12	0	5	2	1	1	4	1	7	2	6	2	3	0	2	2	3	0	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168175C>T	ENST00000156471.5	-	28	3423	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1066					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCCAGAATCTGAGCAGCCT	0.353																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3196-3198)caG>caA		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							92	90	91					15																	35168175		1828	4079	5907	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168175C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3198G>A	15.37:g.35168175C>T							p.Q1066Q	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	27	3379	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1066					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.3198G>A	CCDS42013.1																																																																																				0.353	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35168175	C	T	35168175	2	4	176	1	0	0	0	0	0	0	0	1	835	912	32	3		3	AQR	15	35168175	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	11	35168175	67363217	49	12493			1	33		2	2	12	N	C_A	2.20305e-05
NOX5	79400	broad.mit.edu	37	chr15	69324094	69324094	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacggggccatcaccttcGaggagctccgggacgagctg	8	5	15	13	4	1	0	1	0	0	0	3	4	2	2	3	4	3	3	3	4	1	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:69324094G>T	ENST00000388866.3	+	4	603	c.562G>T	c.(562-564)Gag>Tag	p.E188*	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Nonsense_Mutation_p.E170*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.E160*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.E142*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.E153*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	188	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCACCTTCGAGGAGCTCCG	0.677																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(562-564)Gag>Tag		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							20	20	20					15																	69324094		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69324094G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.562G>T	15.37:g.69324094G>T	ENSP00000373518:p.Glu188*					MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.E142*|NOX5_uc002arp.2_Nonsense_Mutation_p.E170*|NOX5_uc010bid.2_Nonsense_Mutation_p.E153*|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Nonsense_Mutation_p.E160*|NOX5_uc010bif.2_Non-coding_Transcript	p.E188*	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			3	603	+			188			EF-hand 4.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.562G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	33	5.290092	0.95546	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.33	3.33	0.38152	.	0.545250	0.17672	U	0.165929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	9.6032	0.39617	0.0:0.3722:0.6278:0.0	.	.	.	.	X	153;170;188;160	.	ENSP00000373518:E188X	E	+	1	0	NOX5	67111148	1.000000	0.71417	0.954000	0.39281	0.348000	0.29142	3.623000	0.54224	1.438000	0.47492	0.485000	0.47835	GAG		0.677	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		T	69324094	G	T	69324094	4	4	176	1	0	0	0	0	0	1	0	0	10559	1059	37	5	609	5	NOX5	15	69324094	Nonsense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	34155919	69324094	33207298	50	12494											
PAPD5	64282	broad.mit.edu	37	chr16	50263117	50263117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcttccaaggtacaactCaaacaagccatggttccttg	13	9	8	11	0	1	0	1	0	0	0	3	0	3	0	3	3	4	3	3	3	6	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr16:50263117C>G	ENST00000561678.1	+	11	1719	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	PAPD5_ENST00000436909.3_Missense_Mutation_p.Q659E|PAPD5_ENST00000357464.3_Missense_Mutation_p.Q580E|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	533					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGGTACAACTCAAACAAGCCA	0.433																																						uc010vgo.2																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(1975-1977)Caa>Gaa		Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.							94	87	89					16																	50263117		1902	4128	6030	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50263117C>G	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1645C>G	16.37:g.50263117C>G	ENSP00000455837:p.Gln549Glu					PAPD5_uc002efz.3_Missense_Mutation_p.Q612E|PAPD5_uc010cbi.2_Intron	p.Q659E	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	12	2010	+		all_cancers(37;0.0452)	533					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1975C>G		.	.	.	.	.	.	.	.	.	.	C	14.82	2.648539	0.47258	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.43688	0.94;0.96	5.66	5.66	0.87406	.	0.591213	0.17304	N	0.179134	T	0.25195	0.0612	N	0.08118	0	0.29244	N	0.872468	B;B	0.27791	0.189;0.017	B;B	0.24541	0.054;0.004	T	0.12451	-1.0547	10	0.33940	T	0.23	.	14.4694	0.67506	0.1825:0.8175:0.0:0.0	.	659;533	B4DV38;Q8NDF8	.;PAPD5_HUMAN	E	659;580	ENSP00000396995:Q659E;ENSP00000350054:Q580E	ENSP00000350054:Q580E	Q	+	1	0	PAPD5	48820618	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	4.007000	0.57093	2.662000	0.90505	0.650000	0.86243	CAA		0.433	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		G	50263117	C	G	50263117	3	3	176	1	0	0	0	0	1	0	0	0	11425	827	29	5	2025	5	PAPD5	16	50263117	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		50263117	40091636	51	12495											
INPP5K	51763	broad.mit.edu	37	chr17	1419767	1419767	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacctgagcctcctgcctttCggcccgctcagcttccgcga	4	9	9	19	4	1	1	1	1	0	0	4	2	3	1	6	1	3	2	6	1	0	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:1419767C>G	ENST00000421807.2	-	1	415	c.27G>C	c.(25-27)ccG>ccC	p.P9P	INPP5K_ENST00000397335.3_5'UTR|INPP5K_ENST00000542125.1_Silent_p.P9P|INPP5K_ENST00000320345.6_5'UTR|PITPNA-AS1_ENST00000425081.2_RNA|INPP5K_ENST00000406424.4_5'UTR	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	9					actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCTGCCTTTCGGCCCGCTCA	0.756																																						uc002fsr.3																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(25-27)ccG>ccC		Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.							11	11	11					17																	1419767		2156	4221	6377	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1419767C>G		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.27G>C	17.37:g.1419767C>G						INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_5'UTR|INPP5K_uc010vqm.2_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P|LOC100306951_uc021tne.1_5'Flank	p.P9P	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN			0	416	-			9					B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.27G>C	CCDS11004.1																																																																																				0.756	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			G	1419767	C	G	1419767	2	3	176	1	0	0	0	0	0	0	0	1	7760	871	31	5		5	INPP5K	17	1419767	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08		1419767	79775443	52	12496											
PHF12	57649	broad.mit.edu	37	chr17	27233967	27233967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacagcacattgtccaccgTtgtcccatgctcactgtagt	9	12	7	13	1	1	0	1	0	0	0	3	0	3	0	3	0	3	4	3	0	2	4	rs374710227		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:27233967T>C	ENST00000332830.4	-	14	3397	c.2587A>G	c.(2587-2589)Acg>Gcg	p.T863A	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCCACCGTTGTCCCATGC	0.507																																						uc002hdg.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2587-2589)Acg>Gcg		Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.		T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	221	197	205		2587	5.1	1	17		205	0,8600		0,0,4300	no	missense	PHF12	NM_001033561.1	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	863/1005	27233967	1,13005	2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233967T>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2587A>G	17.37:g.27233967T>C	ENSP00000329933:p.Thr863Ala					PHF12_uc010wbb.1_Missense_Mutation_p.T845A	p.T863A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		13	3117	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		863			FHA.			Missense_Mutation	SNP	ENST00000332830.4	37	c.2587A>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423509	0.62733	2.27E-4	0.0	ENSG00000109118	ENST00000332830	T	0.42131	0.98	5.14	5.14	0.70334	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.054900	0.64402	D	0.000001	T	0.59851	0.2224	L	0.59436	1.845	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.62599	-0.6820	10	0.66056	D	0.02	-25.9118	13.921	0.63930	0.0:0.0:0.0:1.0	.	845;863	B4DFE2;Q96QT6	.;PHF12_HUMAN	A	863	ENSP00000329933:T863A	ENSP00000329933:T863A	T	-	1	0	PHF12	24258093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.113000	0.77095	2.155000	0.67459	0.460000	0.39030	ACG		0.507	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		C	27233967	T	C	27233967	3	2	176	1	0	0	0	0	1	0	0	0	11823	1725	60	4	435	4	PHF12	17	27233967	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	25814200	27233967	53961243	53	12497											
DSG3	1830	broad.mit.edu	37	chr18	29052357	29052357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggaacaattcatcagtggGgaattgaaggagcccatcct	14	8	11	8	0	2	1	2	1	0	0	3	4	3	4	2	4	2	0	2	4	5	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr18:29052357G>A	ENST00000257189.4	+	13	2091	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	670					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCATCAGTGGGGAATTGAAGG	0.428																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2008-2010)Gga>Aga		Homo sapiens desmoglein 3 (DSG3), mRNA.							91	93	92					18																	29052357		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052357G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2008G>A	18.37:g.29052357G>A	ENSP00000257189:p.Gly670Arg					DSG3_uc002kwt.3_5'Flank	p.G670R	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	2117	+			670					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2008G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134976	0.37728	.	.	ENSG00000134757	ENST00000257189	T	0.52295	0.67	5.73	3.93	0.45458	.	0.276635	0.25192	N	0.032453	T	0.35278	0.0926	L	0.39245	1.2	0.42961	D	0.994407	B	0.23058	0.079	B	0.19946	0.027	T	0.10132	-1.0643	10	0.26408	T	0.33	.	8.3175	0.32108	0.1407:0.139:0.7203:0.0	.	670	P32926	DSG3_HUMAN	R	670	ENSP00000257189:G670R	ENSP00000257189:G670R	G	+	1	0	DSG3	27306355	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.952000	0.29149	0.753000	0.32945	0.467000	0.42956	GGA		0.428	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29052357	G	A	29052357	3	1	176	1	0	0	0	0	1	0	0	0	4778	1233	43	3	2058	3	DSG3	18	29052357	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		29052357	49024891	54	12498											
S1PR4	8698	broad.mit.edu	37	chr19	3179828	3179828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccgtcgaggctcactcCggagcttccaccaccgacag	7	5	12	17	5	1	0	1	0	0	0	4	3	3	1	5	3	1	2	5	3	0	1	rs147906636	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:3179828C>T	ENST00000246115.3	+	1	1093	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	346					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						AGGCTCACTCCGGAGCTTCCA	0.687													C|||	2	0.000399361	0	0.0014	5008	,	,		15667	0.001		0	False		,,,				2504	0				GBM(82;318 1638 33279 49708)	uc002lxg.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(1036-1038)tcC>tcT		Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.		C		1,4389		0,1,2194	42	51	48		1038	-6.9	0	19	dbSNP_134	48	9,8555		0,9,4273	no	coding-synonymous	S1PR4	NM_003775.3		0,10,6467	TT,TC,CC		0.1051,0.0228,0.0772		346/385	3179828	10,12944	2195	4282	6477	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179828C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1038C>T	19.37:g.3179828C>T							p.S346S	NM_003775	NP_003766	O95977	S1PR4_HUMAN			0	1093	+			346					D6W612	Silent	SNP	ENST00000246115.3	37	c.1038C>T	CCDS12105.1																																																																																				0.687	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		T	3179828	C	T	3179828	2	4	176	1	0	0	0	0	0	0	0	1	13796	639	23	2		2	S1PR4	19	3179828	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08		3179828	55949155	55	12499											
TYK2	7297	broad.mit.edu	37	chr19	10463654	10463654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtagtactcgtggccttCgggcacggccttggctaggc	4	9	16	12	4	0	0	0	0	0	0	2	0	0	0	2	6	1	4	2	6	3	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:10463654C>T	ENST00000525621.1	-	22	3629	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Missense_Mutation_p.E865K|TYK2_ENST00000264818.6_Missense_Mutation_p.E1050K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1050	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGTGGCCTTCGGGCACGGCC	0.652																																						uc002moc.4																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3148-3150)Gaa>Aaa		Homo sapiens tyrosine kinase 2 (TYK2), mRNA.							82	67	72					19																	10463654		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463654C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3148G>A	19.37:g.10463654C>T	ENSP00000431885:p.Glu1050Lys					TYK2_uc010dxe.3_Missense_Mutation_p.E865K	p.E1050K	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		21	3526	-			1050			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.3148G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847609	0.91277	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.293115	0.24585	N	0.037277	T	0.71821	0.3385	N	0.20685	0.6	0.58432	D	0.999996	B	0.32620	0.378	B	0.31547	0.132	T	0.68800	-0.5313	10	0.14252	T	0.57	-11.5444	17.0338	0.86468	0.0:1.0:0.0:0.0	.	1050	P29597	TYK2_HUMAN	K	865;1050;1050;797;73	ENSP00000433203:E865K;ENSP00000431885:E1050K;ENSP00000264818:E1050K;ENSP00000436155:E73K	ENSP00000264818:E1050K	E	-	1	0	TYK2	10324654	0.543000	0.26434	1.000000	0.80357	0.992000	0.81027	1.568000	0.36418	2.636000	0.89361	0.555000	0.69702	GAA		0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			T	10463654	C	T	10463654	3	4	176	1	0	0	0	0	1	0	0	0	16807	893	31	2	431	2	TYK2	19	10463654	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	7283826	10463654	48665329	56	12500											
ZNF540	163255	broad.mit.edu	37	chr19	38103690	38103690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtacgatgtgggaagacCtttagatttggtttctacct	8	16	11	6	1	1	2	0	0	1	2	1	4	1	3	2	2	2	2	2	2	4	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:38103690C>T	ENST00000592533.1	+	5	1841	c.1509C>T	c.(1507-1509)acC>acT	p.T503T	ZNF540_ENST00000316433.4_Silent_p.T503T|ZNF540_ENST00000589117.1_Silent_p.T471T|ZNF540_ENST00000343599.5_Silent_p.T503T	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	503					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAGACCTTTAGATTTG	0.393																																						uc002ogq.3																			0											c.(1507-1509)acC>acT		Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.							91	93	92					19																	38103690		2203	4300	6503	SO:0001819	synonymous_variant	163255							g.chr19:38103690C>T	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1509C>T	19.37:g.38103690C>T						LOC100507433_uc002ogu.3_Silent_p.T503T|LOC100507433_uc010efq.3_Silent_p.T471T	p.T503T	NM_152606	NP_689819					4	1876	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.1509C>T	CCDS12506.1																																																																																				0.393	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		T	38103690	C	T	38103690	2	4	176	1	0	0	0	0	0	0	0	1	17972	668	24	3		3	ZNF540	19	38103690	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	27640036	38103690	21025293	57	12501											
CD33	945	broad.mit.edu	37	chr19	51728575	51728575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcactttcttccatcccAtaccctactacgacaagaac	11	10	3	17	1	1	1	0	0	1	1	3	2	3	1	4	0	5	1	4	0	5	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:51728575A>T	ENST00000262262.4	+	2	160	c.139A>T	c.(139-141)Ata>Tta	p.I47L	CD33_ENST00000391796.3_Missense_Mutation_p.I47L|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	47	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTTCCATCCCATACCCTACTA	0.532																																						uc002pwa.2																			0		p.P46H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(139-141)Ata>Tta		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)						92	89	90					19																	51728575		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728575A>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.139A>T	19.37:g.51728575A>T	ENSP00000262262:p.Ile47Leu					CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.I47L	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	1	179	+		all_neural(266;0.0199)	47			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.139A>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.280197	0.00254	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.42513	0.97;2.02	2.05	-4.1	0.03940	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12987	0.0315	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05386	-1.0888	9	0.11794	T	0.64	.	0.4153	0.00447	0.2133:0.283:0.2066:0.297	.	47;47	F8WAL2;P20138	.;CD33_HUMAN	L	47	ENSP00000262262:I47L;ENSP00000375673:I47L	ENSP00000262262:I47L	I	+	1	0	CD33	56420387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.187000	0.01250	-5.132000	0.00021	-2.330000	0.00249	ATA		0.532	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		T	51728575	A	T	51728575	3	4	176	1	0	0	0	0	1	0	0	0	3005	217	8	5	145	5	CD33	19	51728575	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	13624885	51728575	7400408	58	12502											
FAM113A	64773	broad.mit.edu	37	chr20	2819125	2819125	+	Splice_Site	DEL	C	C	-																															gagcctgccaggggctggagCtaagtgagaaagtgcagcct																										TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:2819125delC	ENST00000360652.2	-	6	1097		c.e6-1		VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Splice_Site	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A																		GGGGCTGGAGCTAAGTGAGAA	0.572																																						uc002wgz.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						c.e6-1		Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.							46	51	49					20																	2819125		2203	4300	6503	SO:0001630	splice_region_variant	64773						hydrolase activity|protein binding	g.chr20:2819125delC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.595-1G>-	20.37:g.2819125delC						FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	p.L199_splice	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			6	1092	-			199					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Splice_Site	DEL	ENST00000360652.2	37	c.595_splice	CCDS13035.1																																																																																				0.572	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760	Intron	-	2819125	C	-	2819125	8	5	176	1	0	1	0	1	0	0	1	0	5401	811	28	0	782	0	FAM113A	20	2819125	Splice_Site	DEL	C	TCGA-26-5134-01A-01D-1486-08		2819125	60206395	59	12503											
ISM1	140862	broad.mit.edu	37	chr20	13260546	13260546	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagatcagccagaatatgGtgagtttaccacctagtaat	15	10	8	8	0	1	3	1	1	0	2	1	3	1	3	3	1	2	2	3	1	6	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:13260546G>T	ENST00000262487.4	+	3	649		c.e3+1		TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGAATATGGTGAGTTTACC	0.498																																						uc010gce.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.e3+1		Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.							30	33	33					20																	13260546		1878	4105	5983	SO:0001630	splice_region_variant	140862					extracellular region		g.chr20:13260546G>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.643+1G>T	20.37:g.13260546G>T						TASP1_uc010zri.1_Intron	p.D215_splice	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			3	649	+			215					Q8WVH9	Splice_Site	SNP	ENST00000262487.4	37	c.643_splice	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527314	0.85706	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ISM1	13208546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.823000	0.92018	2.828000	0.97474	0.655000	0.94253	.		0.498	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		Intron	T	13260546	G	T	13260546	5	4	176	1	0	0	0	0	0	0	1	0	7860	1275	44	5	654	5	ISM1	20	13260546	Splice_Site	SNP	G	TCGA-26-5134-01A-01D-1486-08	10441421	13260546	49764974	60	12504											
CSTF1	1477	broad.mit.edu	37	chr20	54974411	54974411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacactggtcagatacaCgggtatgtgagacgttgatg	12	9	13	7	3	1	3	1	2	0	2	1	5	1	3	0	2	2	2	0	2	3	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:54974411C>T	ENST00000217109.4	+	5	1386	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	345					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GTCAGATACACGGGTATGTGA	0.373																																						uc002xxl.1																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(1033-1035)aCg>aTg		Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.							89	88	88					20																	54974411		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54974411C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1034C>T	20.37:g.54974411C>T	ENSP00000217109:p.Thr345Met					CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M	p.T345M	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		4	1234	+			345					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.1034C>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645972	0.87958	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000425890;ENST00000452950	D;D;D	0.81739	-1.53;-1.53;-1.53	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90198	0.4255	10	0.66056	D	0.02	-13.1241	20.3539	0.98825	0.0:1.0:0.0:0.0	.	345	Q05048	CSTF1_HUMAN	M	345;345;332;345	ENSP00000387968:T345M;ENSP00000217109:T345M;ENSP00000409035:T345M	ENSP00000217109:T345M	T	+	2	0	CSTF1	54407818	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.657000	0.83745	2.826000	0.97356	0.655000	0.94253	ACG		0.373	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		T	54974411	C	T	54974411	3	4	176	1	0	0	0	0	1	0	0	0	3983	536	19	1	1048	1	CSTF1	20	54974411	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	41713865	54974411	8051109	61	12505											
CXADR	1525	broad.mit.edu	37	chr21	18933791	18933791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagttcatcacgataTcaggtaattaagtgagacag	17	9	10	5	1	3	1	3	1	0	1	3	4	3	2	0	2	0	2	0	2	5	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr21:18933791T>C	ENST00000284878.7	+	6	1578	c.830T>C	c.(829-831)aTc>aCc	p.I277T	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.I236T|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.I277T|CXADR_ENST00000400166.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CATCACGATATCAGGTAATTA	0.363																																						uc002yki.3																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(829-831)aTc>aCc		Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.							72	71	71					21																	18933791		2203	4300	6503	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18933791T>C	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.830T>C	21.37:g.18933791T>C	ENSP00000284878:p.Ile277Thr					CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.I236T|CXADR_uc002ykj.2_Missense_Mutation_p.I277T	p.I277T	NM_001338	NP_001329	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	5	1054	+			277					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.830T>C	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.802075	0.70682	.	.	ENSG00000154639	ENST00000284878;ENST00000400169;ENST00000306618	T;T;D	0.91407	-1.26;-1.32;-2.84	4.49	4.49	0.54785	.	0.045406	0.85682	D	0.000000	D	0.93766	0.8007	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.974;0.989	D	0.91947	0.5568	10	0.14656	T	0.56	.	13.2808	0.60212	0.0:0.0:0.0:1.0	.	277;277	B7WPI3;P78310	.;CXAR_HUMAN	T	277;277;236	ENSP00000284878:I277T;ENSP00000383033:I277T;ENSP00000303395:I236T	ENSP00000284878:I277T	I	+	2	0	CXADR	17855662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.918000	0.75788	1.799000	0.52666	0.482000	0.46254	ATC		0.363	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			C	18933791	T	C	18933791	3	2	176	1	0	0	0	0	1	0	0	0	4076	1435	50	4	852	4	CXADR	21	18933791	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08		18933791	29196104	62	12506											
HCRTR1	3061	broad.mit.edu	37	chr1	32084853	32084853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggcagcagagagccGtcccctgtgcctccagacta	7	6	10	18	1	0	2	0	0	0	2	2	3	2	2	7	1	3	2	7	1	1	1	rs142288232		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:32084853G>A	ENST00000373706.5	+	1	213	c.60G>A	c.(58-60)ccG>ccA	p.P20P	HCRTR1_ENST00000373705.1_Silent_p.P20P|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Silent_p.P20P			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	20					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCAGAGAGCCGTCCCCTGTGC	0.607																																						uc009vtx.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(58-60)ccG>ccA		Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.		G		3,4403	8.1+/-20.4	0,3,2200	86	90	89		60	-6.2	0	1	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	HCRTR1	NM_001525.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		20/426	32084853	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084853G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.60G>A	1.37:g.32084853G>A						HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Silent_p.P20P|HCRTR1_uc010ogl.2_Silent_p.P20P	p.P20P	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	2	445	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	20					A8K3A6|Q9HBV6	Silent	SNP	ENST00000373706.5	37	c.60G>A	CCDS344.1																																																																																				0.607	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		A	32084853	G	A	32084853	2	1	177	1	0	0	0	0	0	0	0	1	7001	1132	40	1		1	HCRTR1	1	32084853	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		32084853	217165768	1	12507											
MSH4	4438	broad.mit.edu	37	chr1	76269590	76269590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagctggacaccacaagtggGatattcaggtaaaataagtg	15	8	12	6	0	1	0	1	0	0	0	1	3	1	2	1	3	1	2	1	3	5	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:76269590G>A	ENST00000263187.3	+	2	523	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	140					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCACAAGTGGGATATTCAGGT	0.313								Mismatch excision repair (MMR)																														uc001dhd.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(418-420)gGa>gAa	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.							85	88	87					1																	76269590		2202	4300	6502	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76269590G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.419G>A	1.37:g.76269590G>A	ENSP00000263187:p.Gly140Glu						p.G140E	NM_002440	NP_002431	O15457	MSH4_HUMAN			1	534	+			140					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.419G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559692	0.27827	.	.	ENSG00000057468	ENST00000263187	D	0.87650	-2.28	4.73	1.65	0.23941	.	1.972850	0.02654	N	0.106777	T	0.68769	0.3037	N	0.20986	0.625	0.36993	D	0.894903	B	0.15930	0.015	B	0.17433	0.018	T	0.56123	-0.8031	10	0.66056	D	0.02	-5.1142	8.0091	0.30342	0.1489:0.1303:0.7208:0.0	.	140	O15457	MSH4_HUMAN	E	140	ENSP00000263187:G140E	ENSP00000263187:G140E	G	+	2	0	MSH4	76042178	1.000000	0.71417	0.988000	0.46212	0.698000	0.40448	2.584000	0.46102	0.427000	0.26145	-0.266000	0.10368	GGA		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		A	76269590	G	A	76269590	3	1	177	1	0	0	0	0	1	0	0	0	9872	1174	41	3	425	3	MSH4	1	76269590	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	44184737	76269590	172981031	2	12508											
KCNA10	3744	broad.mit.edu	37	chr1	111061339	111061339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatagcctggctctTcttggatttcatctgaatta	7	16	9	9	0	4	1	1	1	3	0	4	2	4	2	1	3	1	2	1	3	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:111061339T>A	ENST00000369771.2	-	1	458	c.71A>T	c.(70-72)gAa>gTa	p.E24V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	24					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GCCTGGCTCTTCTTGGATTTC	0.522																																						uc001dzt.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(70-72)gAa>gTa		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.							36	36	36					1																	111061339		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061339T>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.71A>T	1.37:g.111061339T>A	ENSP00000358786:p.Glu24Val						p.E24V	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	0	459	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	24						Missense_Mutation	SNP	ENST00000369771.2	37	c.71A>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193896	0.58017	.	.	ENSG00000143105	ENST00000369771	D	0.96830	-4.14	5.63	5.63	0.86233	.	0.807665	0.10919	N	0.619701	D	0.92011	0.7469	L	0.57536	1.79	0.40720	D	0.982656	B	0.30068	0.267	B	0.18871	0.023	D	0.87894	0.2686	10	0.33141	T	0.24	.	15.0134	0.71565	0.0:0.0:0.0:1.0	.	24	Q16322	KCA10_HUMAN	V	24	ENSP00000358786:E24V	ENSP00000358786:E24V	E	-	2	0	KCNA10	110862862	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.126000	0.50477	2.136000	0.66102	0.533000	0.62120	GAA		0.522	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		A	111061339	T	A	111061339	3	1	177	1	0	0	0	0	1	0	0	0	8002	1783	62	5	1468	5	KCNA10	1	111061339	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	34791749	111061339	138189282	3	12509											
TRIM33	51592	broad.mit.edu	37	chr1	114969900	114969900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgctttcaaaatatgaCgcaactggaaagtaatctta	15	11	7	8	2	2	1	1	1	1	0	2	2	2	2	1	1	2	3	1	1	7	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:114969900C>T	ENST00000358465.2	-	8	1402	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	TRIM33_ENST00000450349.2_Missense_Mutation_p.R48H|TRIM33_ENST00000369543.2_Missense_Mutation_p.R440H	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	440					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAATATGACGCAACTGGAA	0.353			T	RET	papillary thyroid																																	uc001eew.3				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1318-1320)cGt>cAt		Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.							94	95	94					1																	114969900		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114969900C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1319G>A	1.37:g.114969900C>T	ENSP00000351250:p.Arg440His					TRIM33_uc010owr.2_Missense_Mutation_p.R48H|TRIM33_uc010ows.2_Missense_Mutation_p.R48H|TRIM33_uc001eex.3_Missense_Mutation_p.R440H	p.R440H	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1403	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	440					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1319G>A	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.53|18.53	3.644214|3.644214	0.67244|0.67244	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.75260|.	-0.78;-0.69;-0.92|.	4.94|4.94	4.94|4.94	0.65067|0.65067	B-box, C-terminal (1);|.	0.108901|.	0.64402|.	D|.	0.000005|.	T|T	0.47857|0.47857	0.1468|0.1468	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999998|0.999998	D;D;B;B|.	0.76494|.	0.999;0.999;0.354;0.062|.	D;D;B;B|.	0.74674|.	0.984;0.984;0.041;0.015|.	T|T	0.43988|0.43988	-0.9357|-0.9357	10|5	0.34782|.	T|.	0.22|.	-4.9585|-4.9585	18.1494|18.1494	0.89669|0.89669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	48;48;440;440|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	H|I	440;440;48|177	ENSP00000351250:R440H;ENSP00000358556:R440H;ENSP00000412077:R48H|.	ENSP00000351250:R440H|.	R|V	-|-	2|1	0|0	TRIM33|TRIM33	114771423|114771423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.616000|4.616000	0.61197|0.61197	2.298000|2.298000	0.77334|0.77334	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		T	114969900	C	T	114969900	3	4	177	1	0	0	0	0	1	0	0	0	16504	536	19	1	2116	1	TRIM33	1	114969900	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	3908561	114969900	134280721	4	12510											
CRTC2	200186	broad.mit.edu	37	chr1	153927550	153927550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctactcacctggaactcGgccaggccagagccaatctg	9	7	11	14	1	3	1	1	0	2	1	4	2	3	2	4	4	3	0	4	4	3	1	rs372355568		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:153927550G>A	ENST00000368633.1	-	2	373	c.246C>T	c.(244-246)gcC>gcT	p.A82A	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	82					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGAACTCGGCCAGGCCAG	0.547																																						uc021pab.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(244-246)gcC>gcT		Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	70	70	70		246	-9.4	0.6	1		70	0,8600		0,0,4300	no	coding-synonymous	CRTC2	NM_181715.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		82/694	153927550	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153927550G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.246C>T	1.37:g.153927550G>A						CRTC2_uc001fde.4_5'Flank|CRTC2_uc001fdf.4_5'Flank	p.A82A	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	405	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		82					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.246C>T	CCDS30875.1																																																																																				0.547	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153927550	G	A	153927550	2	1	177	1	0	0	0	0	0	0	0	1	3900	1103	39	2		2	CRTC2	1	153927550	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	38957650	153927550	95323071	5	12511											
GON4L	54856	broad.mit.edu	37	chr1	155791284	155791284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacattggcatatcttccGtctcactgatggctgctttc	8	14	7	12	1	2	1	1	1	2	0	5	1	3	1	1	2	2	3	1	2	2	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:155791284G>A	ENST00000368331.1	-	5	992	c.944C>T	c.(943-945)aCg>aTg	p.T315M	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.T315M|GON4L_ENST00000437809.1_Missense_Mutation_p.T315M|GON4L_ENST00000271883.5_Missense_Mutation_p.T315M	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	315					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATATCTTCCGTCTCACTGAT	0.398																																						uc001flz.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(943-945)aCg>aTg		Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.							230	179	197					1																	155791284		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155791284G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.944C>T	1.37:g.155791284G>A	ENSP00000357315:p.Thr315Met					GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.3_Missense_Mutation_p.T315M|GON4L_uc001fmd.4_Missense_Mutation_p.T315M|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T143M|GON4L_uc001fmf.3_Missense_Mutation_p.T9M	p.T315M	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			4	1041	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		315					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.944C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.108738	0.77096	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14391	2.69;2.69;2.69;2.51	5.16	5.16	0.70880	.	0.059662	0.64402	D	0.000003	T	0.28830	0.0715	M	0.69823	2.125	0.33363	D	0.572511	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.87578	0.988;0.998;0.942;0.877;0.942	T	0.03184	-1.1063	10	0.72032	D	0.01	.	16.5835	0.84720	0.0:0.0:1.0:0.0	.	9;315;315;315;315	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	M	315	ENSP00000396117:T315M;ENSP00000357315:T315M;ENSP00000271883:T315M;ENSP00000354322:T315M	ENSP00000271883:T315M	T	-	2	0	GON4L	154057908	1.000000	0.71417	0.961000	0.40146	0.961000	0.63080	7.471000	0.80985	2.693000	0.91896	0.655000	0.94253	ACG		0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155791284	G	A	155791284	3	1	177	1	0	0	0	0	1	0	0	0	6572	1145	40	1	6007	1	GON4L	1	155791284	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	1863734	155791284	93459337	6	12512											
SPTA1	6708	broad.mit.edu	37	chr1	158609712	158609712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttgaacctctgttgaCgactggcctcattgagcttc	6	15	10	10	1	2	3	1	3	1	0	3	4	2	3	2	1	2	3	2	1	1	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:158609712C>T	ENST00000368147.4	-	34	5003	c.4823G>A	c.(4822-4824)cGt>cAt	p.R1608H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1608					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463																																						uc001fst.1																			0		p.R1608C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4822-4824)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							200	184	189					1																	158609712		1922	4121	6043	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609712C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4823G>A	1.37:g.158609712C>T	ENSP00000357129:p.Arg1608His						p.R1608H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			33	5022	-	all_hematologic(112;0.0378)		1608					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4823G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741017	0.89573	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35789	1.29;1.29	5.53	5.53	0.82687	.	0.000000	0.32134	N	0.006521	T	0.45377	0.1339	M	0.68952	2.095	0.39432	D	0.967103	D	0.76494	0.999	D	0.70716	0.97	T	0.50048	-0.8873	10	0.87932	D	0	.	8.2512	0.31724	0.0:0.8418:0.0:0.1582	.	1608	P02549	SPTA1_HUMAN	H	1608	ENSP00000357130:R1608H;ENSP00000357129:R1608H	ENSP00000357129:R1608H	R	-	2	0	SPTA1	156876336	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.475000	0.66787	2.882000	0.98803	0.655000	0.94253	CGT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158609712	C	T	158609712	3	4	177	1	0	0	0	0	1	0	0	0	15115	536	19	1	2512	1	SPTA1	1	158609712	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2818428	158609712	90640909	7	12513											
DUSP27	92235	broad.mit.edu	37	chr1	167096396	167096396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgatggggacacgacGtcagtactgagcacccagag	11	5	14	11	3	1	3	1	2	0	1	1	5	1	4	1	2	3	3	1	2	1	1	rs376593703		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:167096396G>A	ENST00000361200.2	+	6	2194	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.T676T|DUSP27_ENST00000443333.1_Silent_p.T676T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637																																						uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2026-2028)acG>acA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.		G		0,4406		0,0,2203	48	49	49		2028	-9.1	0	1		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DUSP27	NM_001080426.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		676/1159	167096396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096396G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2028G>A	1.37:g.167096396G>A							p.T676T	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	2044	+			676					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2028G>A	CCDS30932.1																																																																																				0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167096396	G	A	167096396	2	1	177	1	0	0	0	0	0	0	0	1	4824	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	8486684	167096396	82154225	8	12514											
C4BPB	725	broad.mit.edu	37	chr1	207263727	207263727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtggaaggacagattctgGggacttacgtttgtatcaag	11	11	14	5	1	2	1	1	0	1	1	2	4	2	4	0	5	1	2	0	5	4	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:207263727G>T	ENST00000243611.5	+	2	427	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	C4BPB_ENST00000391923.1_Missense_Mutation_p.G45W|C4BPB_ENST00000451804.2_Missense_Mutation_p.G35W|C4BPB_ENST00000367078.3_Missense_Mutation_p.G45W|C4BPB_ENST00000367076.3_Missense_Mutation_p.G44W	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	45	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						ACAGATTCTGGGGACTTACGT	0.473																																						uc009xcd.3																			0				breast(2)|lung(1)|ovary(1)	4						c.(103-105)Ggg>Tgg		Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.							136	118	124					1																	207263727		2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207263727G>T	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"complement component 4 binding protein, beta chain", "C4b binding protein, beta chain"	120831	"complement component 4-binding protein, beta"	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.133G>T	1.37:g.207263727G>T	ENSP00000243611:p.Gly45Trp					C4BPB_uc001hfi.3_Missense_Mutation_p.G44W|C4BPB_uc001hfj.3_Missense_Mutation_p.G45W|C4BPB_uc001hfl.3_Missense_Mutation_p.G45W|C4BPB_uc001hfk.3_Missense_Mutation_p.G44W|C4BPB_uc001hfm.3_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	p.G35W	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN			1	423	+			45			Sushi 1.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.103G>T	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226426	0.58668	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.08	4.16	0.48862	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000128	T	0.73992	0.3658	L	0.57536	1.79	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.997	T	0.65940	-0.6046	10	0.72032	D	0.01	-19.2581	11.8895	0.52620	0.0:0.1762:0.8238:0.0	.	35;35;45;44	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	W	45;45;45;44;45;35	ENSP00000356045:G45W;ENSP00000392237:G45W;ENSP00000243611:G45W;ENSP00000356043:G44W;ENSP00000375790:G45W;ENSP00000405649:G35W	ENSP00000243611:G45W	G	+	1	0	C4BPB	205330350	0.170000	0.23016	0.075000	0.20258	0.265000	0.26407	1.744000	0.38268	1.255000	0.44051	0.650000	0.86243	GGG		0.473	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		T	207263727	G	T	207263727	3	4	177	1	0	0	0	0	1	0	0	0	2250	1232	43	5	139	5	C4BPB	1	207263727	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	40167331	207263727	41986894	9	12515											
OR2L13	284521	broad.mit.edu	37	chr1	248263039	248263039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctccatggcctacgaccGttatttggccatctgccact	7	11	8	15	2	1	0	0	0	1	0	2	2	2	0	6	2	2	1	6	2	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:248263039G>A	ENST00000358120.2	+	2	507	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_ENST00000366478.2_Missense_Mutation_p.R121H			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121H(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCTACGACCGTTATTTGGCC	0.498																																						uc001ids.3																			2	Substitution - Missense(2)	p.R121H(3)|p.R121S(1)|p.R121C(1)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(361-363)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							216	204	208					1																	248263039		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263039G>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.362G>A	1.37:g.248263039G>A	ENSP00000350836:p.Arg121His					OR2L13_uc021pmc.1_Missense_Mutation_p.R121H	p.R121H	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	699	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.362G>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715152	0.30413	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.77489	-1.1;-1.1	4.07	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000732	T	0.77585	0.4152	M	0.82716	2.605	0.29193	N	0.875743	B	0.18461	0.028	B	0.14023	0.01	T	0.74112	-0.3770	10	0.66056	D	0.02	.	11.2646	0.49104	0.0909:0.0:0.9091:0.0	.	121	Q8N349	OR2LD_HUMAN	H	121	ENSP00000355434:R121H;ENSP00000350836:R121H	ENSP00000350836:R121H	R	+	2	0	OR2L13	246329662	0.960000	0.32886	0.059000	0.19551	0.201000	0.24016	7.333000	0.79214	0.908000	0.36671	0.650000	0.86243	CGT		0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		A	248263039	G	A	248263039	3	1	177	1	0	0	0	0	1	0	0	0	11006	1145	40	1	364	1	OR2L13	1	248263039	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	40999312	248263039	987582	10	12516											
C2orf70	339778	broad.mit.edu	37	chr2	26798883	26798883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catggagaagagccacactcCcttcagccaaggcggccatt	11	6	10	14	1	1	2	1	0	0	2	2	3	2	2	4	3	2	0	4	3	2	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:26798883C>T	ENST00000329615.3	+	2	219	c.188C>T	c.(187-189)cCc>cTc	p.P63L	C2orf70_ENST00000409392.1_Silent_p.S50S	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	63						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGCCACACTCCCTTCAGCCAA	0.637																																						uc010eyn.3																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						c.(187-189)cCc>cTc		Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.							115	124	121					2																	26798883		2098	4230	6328	SO:0001583	missense	339778							g.chr2:26798883C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"hypothetical protein LOC339778"						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.188C>T	2.37:g.26798883C>T	ENSP00000332875:p.Pro63Leu						p.P63L	NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN			1	188	+			63						Missense_Mutation	SNP	ENST00000329615.3	37	c.188C>T	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337675	0.05278	.	.	ENSG00000173557	ENST00000329615	T	0.41758	0.99	4.68	0.577	0.17385	.	1.172930	0.06286	N	0.698262	T	0.30759	0.0775	L	0.41236	1.265	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.21586	-1.0241	10	0.21014	T	0.42	-1.9802	5.0218	0.14365	0.0:0.5646:0.1544:0.281	.	63	A6NJV1	CB070_HUMAN	L	63	ENSP00000332875:P63L	ENSP00000332875:P63L	P	+	2	0	C2orf70	26652387	0.001000	0.12720	0.000000	0.03702	0.164000	0.22412	0.005000	0.13129	-0.213000	0.10094	0.313000	0.20887	CCC		0.637	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		T	26798883	C	T	26798883	3	4	177	1	0	0	0	0	1	0	0	0	2190	623	22	3	194	3	C2orf70	2	26798883	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08		26798883	216400490	11	12517											
VAMP5	10791	broad.mit.edu	37	chr2	85818867	85818867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaatagagttggagcGgtgccagcagcaggcgaacg	11	4	18	8	3	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:85818867G>A	ENST00000306384.4	+	2	106	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						GAGTTGGAGCGGTGCCAGCAG	0.602																																						uc002spu.1																			0		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						c.(22-24)cGg>cAg		Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.							107	91	96					2																	85818867		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818867G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.23G>A	2.37:g.85818867G>A	ENSP00000305647:p.Arg8Gln						p.R8Q	NM_006634	NP_006625	O95183	VAMP5_HUMAN			1	106	+			8			v-SNARE coiled-coil homology.		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.23G>A	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	G	5.245	0.230696	0.09969	.	.	ENSG00000168899	ENST00000306384	T	0.39592	1.07	4.84	1.75	0.24633	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.15262	0.0368	N	0.05383	-0.06	0.21416	N	0.999693	B	0.20671	0.047	B	0.15484	0.013	T	0.29701	-1.0003	10	0.02654	T	1	.	4.3255	0.11038	0.1972:0.0:0.6264:0.1763	.	8	O95183	VAMP5_HUMAN	Q	8	ENSP00000305647:R8Q	ENSP00000305647:R8Q	R	+	2	0	VAMP5	85672378	0.084000	0.21492	0.932000	0.37286	0.991000	0.79684	-0.133000	0.10451	0.433000	0.26313	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		A	85818867	G	A	85818867	3	1	177	1	0	0	0	0	1	0	0	0	17113	1116	39	2	29	2	VAMP5	2	85818867	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	59019984	85818867	157380506	12	12518											
SEMA4C	54910	broad.mit.edu	37	chr2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagacactgtcttacgcgGcacaaggttccaccacacct	12	7	8	14	2	1	2	0	0	1	2	2	2	2	2	3	2	1	2	3	2	3	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642																																						uc002sxg.4																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17								Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.							165	149	155					2																	97533539		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97533539G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.85C>T	2.37:g.97533539G>A	ENSP00000306844:p.Pro29Ser					SEMA4C_uc002sxh.4_Missense_Mutation_p.P29S		NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN					-								Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37		CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312270	0.81358	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.59638	1.43;0.25;0.25	4.3	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.285799	0.25277	N	0.031836	T	0.62097	0.2400	N	0.24115	0.695	0.38811	D	0.955416	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	.	12.123	0.53902	0.0:0.0:1.0:0.0	.	29	Q9C0C4	SEM4C_HUMAN	S	29	ENSP00000306844:P29S;ENSP00000393498:P29S;ENSP00000391094:P29S	ENSP00000306844:P29S	P	-	1	0	SEMA4C	96897266	0.004000	0.15560	1.000000	0.80357	0.838000	0.47535	0.611000	0.24268	2.224000	0.72417	0.491000	0.48974	CCG		0.642	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		A	97533539	G	A	97533539	3	1	177	1	0	0	0	0	1	0	0	0	14033	1203	42	3	2472	3	SEMA4C	2	97533539	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	11714672	97533539	145665834	13	12519											
FYCO1	79443	broad.mit.edu	37	chr3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctactcactgttcagccGcatttgggtcgagagaatca	9	11	9	12	2	4	1	3	0	1	1	5	3	4	1	2	1	2	2	2	1	2	3	rs140583635		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																						uc011bal.1																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3934-3936)gCg>gTg		Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.		G	VAL/ALA	0,4406		0,0,2203	176	181	179		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45996750G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val					FYCO1_uc003cpb.4_Missense_Mutation_p.A1312V	p.A1312V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	12	4047	-			1312					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3935C>T	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		A	45996750	G	A	45996750	3	1	177	1	0	0	0	0	1	0	0	0	6125	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		45996750	152025680	14	12520											
PFKFB4	5210	broad.mit.edu	37	chr3	48563038	48563038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtacttgtcctggtccCgcagggcgaactccagtgga	7	8	13	13	3	0	0	0	0	0	0	3	2	3	1	4	4	2	2	4	4	2	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:48563038C>T	ENST00000232375.3	-	10	1164	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PFKFB4_ENST00000416568.1_Missense_Mutation_p.R344Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R340Q|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R317Q|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCCTGGTCCCGCAGGGCGAA	0.562																																						uc003ctv.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1051-1053)cGg>cAg		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.							73	61	65					3																	48563038		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563038C>T	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1052G>A	3.37:g.48563038C>T	ENSP00000232375:p.Arg351Gln					PFKFB4_uc003ctx.3_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.3_Missense_Mutation_p.R344Q|PFKFB4_uc003ctw.3_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_Non-coding_Transcript	p.R351Q	NM_004567	NP_004558	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	9	1069	-			351			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1052G>A	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168250	0.94768	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.983;0.997;0.924	D	0.87504	0.2435	10	0.87932	D	0	-17.215	14.2073	0.65741	0.0:1.0:0.0:0.0	.	340;344;351	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	Q	351;340;344;317	ENSP00000232375:R351Q;ENSP00000438908:R340Q;ENSP00000388394:R344Q;ENSP00000437446:R317Q	ENSP00000232375:R351Q	R	-	2	0	PFKFB4	48538042	0.865000	0.29922	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.274000	0.75844	0.467000	0.42956	CGG		0.562	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		T	48563038	C	T	48563038	3	4	177	1	0	0	0	0	1	0	0	0	11763	652	23	2	377	2	PFKFB4	3	48563038	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2566288	48563038	149459392	15	12521											
NISCH	11188	broad.mit.edu	37	chr3	52521957	52521957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttgcaccccagcacatgGccatgctgtgtagccccatc	7	9	9	16	0	0	0	0	0	0	0	1	0	0	0	5	1	4	5	5	1	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:52521957G>A	ENST00000479054.1	+	17	2521	c.2449G>A	c.(2449-2451)Gcc>Acc	p.A817T	NISCH_ENST00000345716.4_Missense_Mutation_p.A817T			Q9Y2I1	NISCH_HUMAN	nischarin	817	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCAGCACATGGCCATGCTGTG	0.622																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2449-2451)Gcc>Acc		Homo sapiens nischarin (NISCH), mRNA.							41	34	36					3																	52521957		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521957G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2449G>A	3.37:g.52521957G>A	ENSP00000418232:p.Ala817Thr					NISCH_uc003dee.4_Missense_Mutation_p.A306T|NISCH_uc003deg.1_Non-coding_Transcript	p.A817T	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	15	2583	+			817			Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2449G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658622	0.67586	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.07327	3.2;3.2	5.04	3.12	0.35913	.	0.419381	0.26895	N	0.021958	T	0.04497	0.0123	N	0.14661	0.345	0.31524	N	0.662077	P	0.39216	0.664	B	0.36092	0.217	T	0.09058	-1.0692	10	0.44086	T	0.13	-29.3432	7.5135	0.27587	0.0:0.3416:0.4097:0.2487	.	817	Q9Y2I1	NISCH_HUMAN	T	817;817;161	ENSP00000418232:A817T;ENSP00000339958:A817T	ENSP00000339958:A817T	A	+	1	0	NISCH	52496997	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.489000	0.35562	2.504000	0.84457	0.561000	0.74099	GCC		0.622	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		A	52521957	G	A	52521957	3	1	177	1	0	0	0	0	1	0	0	0	10432	1203	42	3	2511	3	NISCH	3	52521957	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	3958919	52521957	145500473	16	12522											
ADCY5	111	broad.mit.edu	37	chr3	123046533	123046533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaggtaggcgttgcgctCgcccccacagcctggctcca	5	8	12	16	3	0	1	0	1	0	0	2	1	1	1	4	3	2	4	4	3	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:123046533C>T	ENST00000462833.1	-	7	3091	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ADCY5_ENST00000491190.1_Missense_Mutation_p.E260K|ADCY5_ENST00000309879.5_Missense_Mutation_p.E277K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	627					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E627K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGCGCTCGCCCCCACAG	0.642																																						uc003egh.2																			1	Substitution - Missense(1)	p.E627K(2)|p.G626G(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1879-1881)Gag>Aag		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							91	71	78					3																	123046533		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046533C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1879G>A	3.37:g.123046533C>T	ENSP00000419361:p.Glu627Lys					ADCY5_uc021xdd.1_Missense_Mutation_p.E277K|ADCY5_uc003egg.2_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	p.E627K	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	6	1879	-			627					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1879G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798012	0.96952	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.146381	0.43919	D	0.000502	D	0.87026	0.6075	L	0.41710	1.295	0.80722	D	1	P;D	0.69078	0.816;0.997	B;P	0.55965	0.375;0.788	D	0.84590	0.0666	10	0.27785	T	0.31	.	19.4472	0.94852	0.0:1.0:0.0:0.0	.	627;260	O95622;B3KWA8	ADCY5_HUMAN;.	K	627;260;277;186	ENSP00000419361:E627K;ENSP00000418537:E260K;ENSP00000308685:E277K;ENSP00000420082:E186K	ENSP00000308685:E277K	E	-	1	0	ADCY5	124529223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.578000	0.87016	0.655000	0.94253	GAG		0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123046533	C	T	123046533	3	4	177	1	0	0	0	0	1	0	0	0	297	893	31	2	1966	2	ADCY5	3	123046533	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	70524576	123046533	74975897	17	12523											
RBP2	5948	broad.mit.edu	37	chr3	139195249	139195249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccttcatgtagcccTcaaagttttcattactctcc	8	13	6	14	0	4	0	3	0	1	0	5	0	4	0	4	1	2	2	4	1	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:139195249T>C	ENST00000232217.2	-	1	109	c.53A>G	c.(52-54)gAg>gGg	p.E18G	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	18					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CATGTAGCCCTCAAAGTTTTC	0.562																																						uc003eth.3																			0				breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)gAg>gGg		Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	Vitamin A(DB00162)						227	186	200					3																	139195249		2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139195249T>C	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"Fatty acid binding protein family"	9920	protein-coding gene	gene with protein product		180280	"retinol-binding protein 2, cellular"			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.53A>G	3.37:g.139195249T>C	ENSP00000232217:p.Glu18Gly						p.E18G	NM_004164	NP_004155	P50120	RET2_HUMAN			0	104	-			18					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.53A>G	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941218	0.73557	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.10382	2.88;2.88	5.44	5.44	0.79542	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.348037	0.36101	N	0.002797	T	0.28001	0.0690	M	0.82323	2.585	0.80722	D	1	P	0.48503	0.911	P	0.52109	0.69	T	0.03773	-1.1005	10	0.87932	D	0	.	13.5403	0.61671	0.0:0.0:0.0:1.0	.	18	P50120	RET2_HUMAN	G	18	ENSP00000232217:E18G;ENSP00000424333:E18G	ENSP00000232217:E18G	E	-	2	0	RBP2	140677939	1.000000	0.71417	0.942000	0.38095	0.633000	0.38033	5.156000	0.64905	2.194000	0.70268	0.460000	0.39030	GAG		0.562	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		C	139195249	T	C	139195249	3	2	177	1	0	0	0	0	1	0	0	0	13156	1551	54	4	367	4	RBP2	3	139195249	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	16148716	139195249	58827181	18	12524											
PSMD2	5708	broad.mit.edu	37	chr3	184021749	184021749	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtcaggagctcttctTgcctgtggcatagtgaactc	7	14	11	9	0	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:184021749T>C	ENST00000310118.4	+	11	1896	c.1338T>C	c.(1336-1338)ctT>ctC	p.L446L	PSMD2_ENST00000435761.1_Silent_p.L287L|PSMD2_ENST00000439383.1_Silent_p.L316L|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	446					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGCTCTTCTTGCCTGTGGCA	0.512																																					Colon(24;313 636 6917 9932 15554)	uc003fnn.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1336-1338)ctT>ctC		Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	Bortezomib(DB00188)						124	122	122					3																	184021749		2203	4300	6503	SO:0001819	synonymous_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184021749T>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1338T>C	3.37:g.184021749T>C						PSMD2_uc011brj.1_Silent_p.L287L|PSMD2_uc011brk.1_Silent_p.L316L	p.L446L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1371	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		446					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.1338T>C	CCDS3258.1																																																																																				0.512	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		C	184021749	T	C	184021749	2	2	177	1	0	0	0	0	0	0	0	1	12698	1799	63	4		4	PSMD2	3	184021749	Silent	SNP	T	TCGA-26-5135-01A-01D-1486-08	44826500	184021749	14000681	19	12525											
LRRC15	131578	broad.mit.edu	37	chr3	194080518	194080518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggattgtcatacagccGcagctcacacagtttcccca	10	8	8	15	1	2	0	2	0	0	0	3	1	3	1	4	1	3	3	4	1	1	3	rs373084418		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:194080518G>A	ENST00000347624.3	-	2	1340	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	LRRC15_ENST00000428839.1_Missense_Mutation_p.R425W|LRRC15_ENST00000439944.2_Missense_Mutation_p.R425W	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	419					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCATACAGCCGCAGCTCACAC	0.577																																						uc003ftt.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1273-1275)Cgg>Tgg		Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.							53	48	50					3																	194080518		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080518G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1255C>T	3.37:g.194080518G>A	ENSP00000306276:p.Arg419Trp					LRRC15_uc003ftu.3_Missense_Mutation_p.R419W|LRRC15_uc021xiy.1_Missense_Mutation_p.R419W	p.R425W	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1398	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		419			LRRCT.		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1273C>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125167	0.20959	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.36;0.36	5.2	-0.611	0.11601	.	0.433804	0.20199	N	0.097126	T	0.51856	0.1699	N	0.11845	0.185	0.22648	N	0.998894	B;D	0.89917	0.35;1.0	B;D	0.70016	0.055;0.967	T	0.57991	-0.7715	10	0.38643	T	0.18	.	16.8652	0.86027	0.0:0.0:0.288:0.7119	.	419;425	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	W	419;425;425	ENSP00000306276:R419W;ENSP00000389128:R425W;ENSP00000413707:R425W	ENSP00000306276:R419W	R	-	1	2	LRRC15	195561813	0.000000	0.05858	0.983000	0.44433	0.825000	0.46686	0.446000	0.21694	-0.024000	0.13941	0.655000	0.94253	CGG		0.577	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			A	194080518	G	A	194080518	3	1	177	1	0	0	0	0	1	0	0	0	8970	1086	38	1	494	1	LRRC15	3	194080518	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	10058769	194080518	3941912	20	12526											
ADD1	118	broad.mit.edu	37	chr4	2930135	2930135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctcagctgtcgaggaggGggccgccgcggaccctggca	5	4	16	16	4	1	0	1	0	0	0	2	3	1	2	5	5	1	2	5	5	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:2930135G>A	ENST00000398129.1	+	14	2119	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E	ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.G700E|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.G731E			P35611	ADDA_HUMAN	adducin 1 (alpha)	700					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCGAGGAGGGGGCCGCCGCG	0.662																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfq.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(2191-2193)gGg>gAg		Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.							39	52	48					4																	2930135		2197	4296	6493	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2930135G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2099G>A	4.37:g.2930135G>A	ENSP00000381197:p.Gly700Glu					ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.G700E|ADD1_uc003gfs.3_3'UTR	p.G731E	NM_014189	NP_054908	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	14	2380	+			700			Interaction with calmodulin (Potential).		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.2192G>A	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.759931|1.759931	0.31137|0.31137	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129|ENST00000514940	T;T;T|T	0.05139|0.13538	3.49;3.55;3.55|2.58	5.08|5.08	4.21|4.21	0.49690|0.49690	.|.	0.108919|0.108919	0.40064|0.40064	N|N	0.001181|0.001181	T|T	0.16938|0.16938	0.0407|0.0407	L|L	0.34521|0.34521	1.04|1.04	0.40250|0.40250	D|D	0.978069|0.978069	B;B|.	0.14805|.	0.007;0.011|.	B;B|.	0.13407|.	0.004;0.009|.	T|T	0.02505|0.02505	-1.1149|-1.1149	10|8	0.14656|0.72032	T|D	0.56|0.01	-23.5481|-23.5481	10.303|10.303	0.43663|0.43663	0.0:0.1473:0.6998:0.1529|0.0:0.1473:0.6998:0.1529	.|.	700;731|.	P35611;P35611-3|.	ADDA_HUMAN;.|.	E|R	731;700;700|437	ENSP00000264758:G731E;ENSP00000399828:G700E;ENSP00000381197:G700E|ENSP00000424143:G437R	ENSP00000264758:G731E|ENSP00000424143:G437R	G|G	+|+	2|1	0|0	ADD1|ADD1	2899933|2899933	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.272000|0.272000	0.26649|0.26649	2.269000|2.269000	0.43346|0.43346	1.063000|1.063000	0.40649|0.40649	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.662	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		A	2930135	G	A	2930135	3	1	177	1	0	0	0	0	1	0	0	0	304	1232	43	3	2284	3	ADD1	4	2930135	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		2930135	188224141	21	12527											
RXFP1	59350	broad.mit.edu	37	chr4	159538309	159538309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaataacgtcctcacccGtttacctgataaacctctct	11	12	5	13	2	2	2	1	2	1	0	4	3	3	2	4	0	3	1	4	0	5	4	rs368431235		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:159538309G>A	ENST00000307765.5	+	9	958	c.707G>A	c.(706-708)cGt>cAt	p.R236H	RXFP1_ENST00000343542.5_Missense_Mutation_p.R236H|RXFP1_ENST00000448688.2_Missense_Mutation_p.R155H|RXFP1_ENST00000460056.2_Missense_Mutation_p.R155H|RXFP1_ENST00000470033.1_Missense_Mutation_p.R203H	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTCCTCACCCGTTTACCTGAT	0.363																																						uc003ipz.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(706-708)cGt>cAt		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.		G	HIS/ARG	1,3691		0,1,1845	162	155	157		707	-7.6	0	4		157	0,8210		0,0,4105	no	missense	RXFP1	NM_021634.2	29	0,1,5950	AA,AG,GG		0.0,0.0271,0.0084	benign	236/758	159538309	1,11901	1846	4105	5951	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159538309G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.707G>A	4.37:g.159538309G>A	ENSP00000303248:p.Arg236His					RXFP1_uc010iqj.2_Missense_Mutation_p.R65H|RXFP1_uc010iqk.3_Missense_Mutation_p.R104H|RXFP1_uc011cja.2_Missense_Mutation_p.R155H|RXFP1_uc010iqo.3_Missense_Mutation_p.R236H|RXFP1_uc011cjb.2_Missense_Mutation_p.R182H|RXFP1_uc011cjc.2_Missense_Mutation_p.R155H|RXFP1_uc011cjd.2_Missense_Mutation_p.R155H|RXFP1_uc010iql.3_Missense_Mutation_p.R104H|RXFP1_uc011cje.2_Missense_Mutation_p.R263H|RXFP1_uc010iqm.3_Missense_Mutation_p.R203H|RXFP1_uc011cjf.2_Missense_Mutation_p.R106H|RXFP1_uc010iqn.3_Missense_Mutation_p.R182H	p.R236H	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	8	970	+	all_hematologic(180;0.24)	Renal(120;0.0854)	236					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.707G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	1.806	-0.475979	0.04414	2.71E-4	0.0	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.83755	3.62;3.62;4.28;-1.76;3.62	5.53	-7.55	0.01327	.	0.672502	0.16592	N	0.207737	T	0.65260	0.2674	N	0.11364	0.135	0.09310	N	0.99999	B;B;B;B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.001;0.0;0.002;0.001;0.0	B;B;B;B;B;B;B;B;B	0.10450	0.001;0.001;0.003;0.002;0.002;0.001;0.005;0.001;0.001	T	0.12863	-1.0531	10	0.35671	T	0.21	.	18.4961	0.90865	0.6913:0.0:0.3087:0.0	.	247;263;155;236;203;155;106;173;236	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	H	155;236;155;236;203;106	ENSP00000423306:R155H;ENSP00000303248:R236H;ENSP00000414885:R155H;ENSP00000345889:R236H;ENSP00000420712:R203H	ENSP00000303248:R236H	R	+	2	0	RXFP1	159757759	0.000000	0.05858	0.001000	0.08648	0.237000	0.25408	-1.237000	0.02922	-1.957000	0.01021	-0.897000	0.02905	CGT		0.363	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		A	159538309	G	A	159538309	3	1	177	1	0	0	0	0	1	0	0	0	13759	1145	40	1	741	1	RXFP1	4	159538309	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	156608174	159538309	31615967	22	12528											
ODZ3	55714	broad.mit.edu	37	chr4	183713542	183713542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaccatgcagaccatccGatccattggctactaccgca	11	7	6	17	2	0	1	0	0	0	1	2	2	2	1	6	1	3	3	6	1	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:183713542G>A	ENST00000511685.1	+	26	5840	c.5717G>A	c.(5716-5718)cGa>cAa	p.R1906Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R1906Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1906					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGACCATCCGATCCATTGGC	0.542																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(5716-5718)cGa>cAa		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							65	70	68					4																	183713542		2022	4184	6206	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713542G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5717G>A	4.37:g.183713542G>A	ENSP00000424226:p.Arg1906Gln						p.R1906Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	5792	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1906					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5717G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587914	0.66105	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86164	-2.08;-2.08	5.18	5.18	0.71444	.	.	.	.	.	D	0.91855	0.7422	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.89608	0.3839	9	0.28530	T	0.3	.	18.8905	0.92399	0.0:0.0:1.0:0.0	.	1906	Q9P273	TEN3_HUMAN	Q	1906	ENSP00000424226:R1906Q;ENSP00000385276:R1906Q	ENSP00000385276:R1906Q	R	+	2	0	ODZ3	183950536	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	9.623000	0.98386	2.688000	0.91661	0.591000	0.81541	CGA		0.542	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183713542	G	A	183713542	3	1	177	1	0	0	0	0	1	0	0	0	10836	1058	37	2	5815	2	ODZ3	4	183713542	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	24175233	183713542	7440734	23	12529											
SLC6A19	340024	broad.mit.edu	37	chr5	1216784	1216784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcgccacacagcgctaCgacgactgcttcagcacgtg	8	7	10	16	6	1	0	1	0	0	0	2	2	2	0	2	0	4	3	2	0	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:1216784C>T	ENST00000304460.10	+	7	1055	c.999C>T	c.(997-999)taC>taT	p.Y333Y		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	333					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACAGCGCTACGACGACTGCT	0.617																																						uc003jbw.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(997-999)taC>taT		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							204	149	167					5																	1216784		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216784C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.999C>T	5.37:g.1216784C>T							p.Y333Y	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	1055	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		333					A8K446	Silent	SNP	ENST00000304460.10	37	c.999C>T	CCDS34130.1																																																																																				0.617	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1216784	C	T	1216784	2	4	177	1	0	0	0	0	0	0	0	1	14682	547	19	1		1	SLC6A19	5	1216784	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		1216784	179698476	24	12530											
UGT3A1	133688	broad.mit.edu	37	chr5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgggcacaccatgaCggatggcctccattacgctg	9	7	10	15	2	0	1	0	1	0	0	1	2	1	2	5	3	1	2	5	3	1	1	rs375679556		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:35955903C>T	ENST00000274278.3	-	6	1496	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	UGT3A1_ENST00000503189.1_Missense_Mutation_p.R380H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R346H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	380						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493																																						uc003jjv.2																			0		p.R380C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1138-1140)cGt>cAt		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.		C	HIS/ARG	0,4406		0,0,2203	155	140	145		1139	3	0	5		145	1,8599		0,1,4299	no	missense	UGT3A1	NM_152404.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	380/524	35955903	1,13005	2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35955903C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1139G>A	5.37:g.35955903C>T	ENSP00000274278:p.Arg380His					UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R380H|UGT3A1_uc011cor.2_Missense_Mutation_p.R346H	p.R380H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1332	-	all_lung(31;0.000197)		380					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1139G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	8.934	0.964086	0.18583	0.0	1.16E-4	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.61859	0.07;0.07;0.07	4.12	2.95	0.34219	.	0.415474	0.21401	N	0.075157	T	0.24624	0.0597	N	0.01091	-1.02	0.58432	D	0.999997	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.09377	0.004;0.0;0.0	T	0.03095	-1.1073	10	0.33141	T	0.24	.	8.1933	0.31381	0.0:0.1043:0.0:0.8957	.	346;380;380	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	H	380;380;346	ENSP00000274278:R380H;ENSP00000427079:R380H;ENSP00000426100:R346H	ENSP00000274278:R380H	R	-	2	0	UGT3A1	35991660	1.000000	0.71417	0.002000	0.10522	0.048000	0.14542	2.421000	0.44688	0.553000	0.29044	-0.373000	0.07131	CGT		0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		T	35955903	C	T	35955903	3	4	177	1	0	0	0	0	1	0	0	0	16960	536	19	1	440	1	UGT3A1	5	35955903	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	34739119	35955903	144959357	25	12531											
HCN1	348980	broad.mit.edu	37	chr5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctggagggactcctcGgttcggggggatggctcccg	3	8	20	10	3	0	0	0	0	0	0	4	3	2	3	2	8	1	3	2	8	0	1	rs534013981		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45262136G>A	ENST00000303230.4	-	8	2617	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	854					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTCCTCGGTTCGGGGGG	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		13483	0		0	False		,,,				2504	0					uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2560-2562)Cga>Tga		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							54	64	60					5																	45262136		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262136G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2560C>T	5.37:g.45262136G>A	ENSP00000307342:p.Arg854*						p.R854*	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2585	-			854						Nonsense_Mutation	SNP	ENST00000303230.4	37	c.2560C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	g	37	6.510808	0.97624	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.01	5.01	0.66863	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6446	0.62275	0.0:0.0:0.8453:0.1547	.	.	.	.	X	854	.	ENSP00000307342:R854X	R	-	1	2	HCN1	45297893	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.706000	0.68362	2.487000	0.83934	0.651000	0.88453	CGA		0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262136	G	A	45262136	4	1	177	1	0	0	0	0	0	1	0	0	6996	1124	39	2	116	2	HCN1	5	45262136	Nonsense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	9306233	45262136	135653124	26	12532											
HCN1	348980	broad.mit.edu	37	chr5	45353296	45353296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcatgtatcttctgaCgcatatcagctggtaactta	12	14	7	8	1	4	1	2	1	2	0	4	1	4	1	0	1	2	5	0	1	5	6			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45353296C>T	ENST00000303230.4	-	5	1340	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	428					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R428H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTTCTGACGCATATCAGC	0.338																																						uc003jok.3																			1	Substitution - Missense(1)	p.R428H(2)	prostate(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1282-1284)cGt>cAt		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							163	150	154					5																	45353296		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353296C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1283G>A	5.37:g.45353296C>T	ENSP00000307342:p.Arg428His						p.R428H	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1308	-			428						Missense_Mutation	SNP	ENST00000303230.4	37	c.1283G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374180	0.95923	.	.	ENSG00000164588	ENST00000303230	D	0.96967	-4.19	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000002	D	0.98182	0.9399	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	P	0.60173	0.87	D	0.98485	1.0607	10	0.87932	D	0	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	428	O60741	HCN1_HUMAN	H	428	ENSP00000307342:R428H	ENSP00000307342:R428H	R	-	2	0	HCN1	45389053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.828000	0.97474	0.655000	0.94253	CGT		0.338	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45353296	C	T	45353296	3	4	177	1	0	0	0	0	1	0	0	0	6996	536	19	1	1405	1	HCN1	5	45353296	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	91160	45353296	135561964	27	12533											
PTCD2	79810	broad.mit.edu	37	chr5	71634538	71634538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaggagagcatcctgtttCgctgtggcattagctctgaa	8	12	11	10	1	1	2	0	1	1	1	4	3	3	2	2	2	2	5	2	2	2	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:71634538C>T	ENST00000380639.5	+	7	745	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Silent_p.F71F|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000503868.1_Silent_p.F134F	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	243					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(727-729)ttC>ttT		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							74	69	71					5																	71634538		2203	4300	6503	SO:0001819	synonymous_variant	79810							g.chr5:71634538C>T	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.729C>T	5.37:g.71634538C>T						PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.3_Silent_p.F91F|PTCD2_uc011csg.2_Silent_p.F71F|PTCD2_uc011csh.2_Silent_p.F134F|PTCD2_uc003kcd.3_Non-coding_Transcript	p.F243F	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	6	739	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	243					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Silent	SNP	ENST00000380639.5	37	c.729C>T	CCDS4014.2																																																																																				0.423	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		T	71634538	C	T	71634538	2	4	177	1	0	0	0	0	0	0	0	1	12728	883	31	2		2	PTCD2	5	71634538	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	26281242	71634538	109280722	28	12534											
FCHO2	115548	broad.mit.edu	37	chr5	72370577	72370577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatattctaggtgtgtcaCggggtcccagccctgtcagc	6	12	12	11	1	3	0	2	0	1	0	4	0	4	0	2	3	2	1	2	3	3	4	rs368140227	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:72370577C>T	ENST00000430046.2	+	20	1704	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	FCHO2_ENST00000341845.6_Missense_Mutation_p.R530W|FCHO2_ENST00000512348.1_Missense_Mutation_p.R497W	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R530W(3)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGTGTGTCACGGGGTCCCAG	0.403													C|||	2	0.000399361	0.0015	0	5008	,	,		18479	0		0	False		,,,				2504	0					uc003kcl.3																			3	Substitution - Missense(3)	p.R530W(4)|p.R530R(1)	endometrium(2)|large_intestine(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1588-1590)Cgg>Tgg		Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	1,3747		0,1,1873	81	78	79		1489,1588	4.8	1	5		79	0,8208		0,0,4104	no	missense,missense	FCHO2	NM_001146032.1,NM_138782.2	101,101	0,1,5977	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,probably-damaging	497/778,530/811	72370577	1,11955	1874	4104	5978	SO:0001583	missense	115548							g.chr5:72370577C>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1588C>T	5.37:g.72370577C>T	ENSP00000393776:p.Arg530Trp					FCHO2_uc011csl.2_Missense_Mutation_p.R497W|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	p.R530W	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	19	1704	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	530					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.1588C>T	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273686	0.80580	2.67E-4	0.0	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.44083	0.93;0.94;3.36	5.73	4.85	0.62838	.	0.123853	0.56097	D	0.000028	T	0.66317	0.2777	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.72030	-0.4413	10	0.87932	D	0	-8.8324	16.0653	0.80867	0.1352:0.8648:0.0:0.0	.	497;530	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	W	530;530;497	ENSP00000393776:R530W;ENSP00000344034:R530W;ENSP00000427296:R497W	ENSP00000344034:R530W	R	+	1	2	FCHO2	72406333	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.729000	0.54999	1.401000	0.46761	0.555000	0.69702	CGG		0.403	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		T	72370577	C	T	72370577	3	4	177	1	0	0	0	0	1	0	0	0	5788	527	19	1	1666	1	FCHO2	5	72370577	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	736039	72370577	108544683	29	12535											
ARRDC3	57561	broad.mit.edu	37	chr5	90672545	90672545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggctttcacccaatagcGcacactgccatgtcggcctt	7	11	8	15	3	1	0	1	0	0	0	3	0	1	0	3	2	2	2	3	2	2	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:90672545G>A	ENST00000265138.3	-	3	669	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	135					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ACCCAATAGCGCACACTGCCA	0.398																																						uc003kjz.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(403-405)Cgc>Tgc		Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.							76	77	77					5																	90672545		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90672545G>A	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.403C>T	5.37:g.90672545G>A	ENSP00000265138:p.Arg135Cys						p.R135C	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	2	643	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	135					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.403C>T	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393707	0.96009	.	.	ENSG00000113369	ENST00000265138	T	0.17854	2.25	5.62	5.62	0.85841	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68629	-0.5358	10	0.87932	D	0	-20.769	20.024	0.97514	0.0:0.0:1.0:0.0	.	135	Q96B67	ARRD3_HUMAN	C	135	ENSP00000265138:R135C	ENSP00000265138:R135C	R	-	1	0	ARRDC3	90708301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.745000	0.74860	2.809000	0.96659	0.655000	0.94253	CGC		0.398	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		A	90672545	G	A	90672545	3	1	177	1	0	0	0	0	1	0	0	0	984	1087	38	1	865	1	ARRDC3	5	90672545	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	18301968	90672545	90242715	30	12536											
SLIT3	6586	broad.mit.edu	37	chr5	168112721	168112721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgttggcctggggtcggaCcttggcggaggccagttcca	5	9	17	10	2	0	0	0	0	0	0	2	3	1	2	4	7	0	2	4	7	0	3	rs143177032		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:168112721C>T	ENST00000519560.1	-	31	3945	c.3526G>A	c.(3526-3528)Gtc>Atc	p.V1176I	SLIT3_ENST00000332966.8_Missense_Mutation_p.V1183I|SLIT3_ENST00000404867.3_Missense_Mutation_p.V1176I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1176	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGTCGGACCTTGGCGGAG	0.607																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3547-3549)Gtc>Atc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							75	80	78					5																	168112721		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112721C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3526G>A	5.37:g.168112721C>T	ENSP00000430333:p.Val1176Ile					SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	p.V1183I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3967	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1176			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3547G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904515	0.52333	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.69306	-0.39;-0.39;-0.39	4.76	3.62	0.41486	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.217412	0.47093	D	0.000257	T	0.41026	0.1141	N	0.12746	0.255	0.36395	D	0.862755	B	0.02656	0.0	B	0.06405	0.002	T	0.39375	-0.9617	10	0.17369	T	0.5	.	6.2308	0.20734	0.0:0.7646:0.0:0.2354	.	1176	O75094	SLIT3_HUMAN	I	1176;1183;1176	ENSP00000430333:V1176I;ENSP00000332164:V1183I;ENSP00000384890:V1176I	ENSP00000332164:V1183I	V	-	1	0	SLIT3	168045299	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.278000	0.43426	2.349000	0.79799	0.561000	0.74099	GTC		0.607	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168112721	C	T	168112721	3	4	177	1	0	0	0	0	1	0	0	0	14741	507	18	3	1069	3	SLIT3	5	168112721	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	77440176	168112721	12802539	31	12537											
OR12D2	26529	broad.mit.edu	37	chr6	29364964	29364964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactccgtaatgacttctcGcttgaacttctgtggttcca	7	14	8	12	2	2	2	0	2	2	0	5	2	4	2	2	1	1	4	2	1	2	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29364964G>A	ENST00000383555.2	+	1	549	c.488G>A	c.(487-489)cGc>cAc	p.R163H	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATGACTTCTCGCTTGAACTTC	0.468																																						uc003nmf.4																			0		p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(487-489)cGc>cAc		Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.							168	164	165					6																	29364964		1511	2709	4220	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364964G>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.488G>A	6.37:g.29364964G>A	ENSP00000373047:p.Arg163His						p.R163H	NM_013936	NP_039224	P58182	O12D2_HUMAN			0	549	+			163					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.488G>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	3.358	-0.130999	0.06753	.	.	ENSG00000168787	ENST00000383555	T	0.00169	8.63	3.94	-4.6	0.03390	GPCR, rhodopsin-like superfamily (1);	0.709656	0.13318	N	0.396909	T	0.00039	0.0001	L	0.38531	1.155	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.22730	-1.0208	10	0.46703	T	0.11	.	9.4267	0.38583	0.7184:0.1341:0.1474:0.0	.	163	P58182	O12D2_HUMAN	H	163	ENSP00000373047:R163H	ENSP00000373047:R163H	R	+	2	0	OR12D2	29472943	0.000000	0.05858	0.000000	0.03702	0.335000	0.28730	-4.572000	0.00214	-1.108000	0.03000	0.205000	0.17691	CGC		0.468	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			A	29364964	G	A	29364964	3	1	177	1	0	0	0	0	1	0	0	0	10931	1087	38	1	490	1	OR12D2	6	29364964	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		29364964	141750103	32	12538											
HLA-G	3135	broad.mit.edu	37	chr6	29797340	29797340	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaggacgtggagctcgtGgagaccaggcctgcagggga	9	4	17	11	2	0	1	0	0	0	1	1	5	0	4	3	6	2	2	3	6	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29797340G>C	ENST00000360323.6	+	4	789	c.765G>C	c.(763-765)gtG>gtC	p.V255V	HLA-G_ENST00000428701.1_Silent_p.V255V|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Silent_p.V163V|HLA-G_ENST00000376828.2_Silent_p.V260V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGGAGCTCGTGGAGACCAGGC	0.632																																						uc003nnw.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(763-765)gtG>gtC		Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.							74	67	69					6																	29797340		2203	4299	6502	SO:0001819	synonymous_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797340G>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.765G>C	6.37:g.29797340G>C						HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	p.V255V	NM_002127	NP_002118	P17693	HLAG_HUMAN			4	943	+			255			Alpha-3.|Ig-like C1-type.			Silent	SNP	ENST00000360323.6	37	c.765G>C	CCDS4668.1																																																																																				0.632	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		C	29797340	G	C	29797340	2	2	177	1	0	0	0	0	0	0	0	1	7212	1335	47	5		5	HLA-G	6	29797340	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	432376	29797340	141317727	33	12539											
SKIV2L	6499	broad.mit.edu	37	chr6	31936703	31936703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgaagctggcagggcGggtggcttgtgccatgagca	7	8	17	9	1	0	2	0	2	0	0	0	2	0	2	1	4	3	4	1	4	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:31936703G>A	ENST00000375394.2	+	26	3349	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.R886Q|STK19_ENST00000375331.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1079					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGGCAGGGCGGGTGGCTTGT	0.592																																						uc003nyn.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3235-3237)cGg>cAg		Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.							89	92	91					6																	31936703		1508	2708	4216	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936703G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3236G>A	6.37:g.31936703G>A	ENSP00000364543:p.Arg1079Gln					SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	p.R1079Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			25	3625	+			1079					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3236G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219535	0.95139	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.28069	1.63;1.63	4.58	4.58	0.56647	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.63625	-0.6595	10	0.87932	D	0	-28.2661	16.6655	0.85252	0.0:0.0:1.0:0.0	.	1079	Q15477	SKIV2_HUMAN	Q	1079;921;886	ENSP00000364543:R1079Q;ENSP00000442645:R886Q	ENSP00000364543:R1079Q	R	+	2	0	SKIV2L	32044682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.622000	0.74233	2.537000	0.85549	0.563000	0.77884	CGG		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31936703	G	A	31936703	3	1	177	1	0	0	0	0	1	0	0	0	14359	1116	39	2	3338	2	SKIV2L	6	31936703	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	2139363	31936703	139178364	34	12540											
SFRS3	6428	broad.mit.edu	37	chr6	36564707	36564707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgttgaatttgaagatccCcgagatgcagctgatgcagt	10	13	11	7	1	0	5	0	3	0	2	1	6	1	5	2	0	3	4	2	0	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:36564707C>T	ENST00000373715.6	+	2	284	c.168C>T	c.(166-168)ccC>ccT	p.P56P	SRSF3_ENST00000339436.7_Silent_p.P56P	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TTGAAGATCCCCGAGATGCAG	0.433																																						uc003omj.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(166-168)ccC>ccT		Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.							64	67	66					6																	36564707		2203	4300	6503	SO:0001819	synonymous_variant	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36564707C>T	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.168C>T	6.37:g.36564707C>T						SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Silent_p.P56P	p.P56P	NM_003017	NP_003008	P84103	SRSF3_HUMAN			1	339	+			56			RRM.		B4E241|O08831|P23152|Q5R3K0	Silent	SNP	ENST00000373715.6	37	c.168C>T	CCDS4823.1																																																																																				0.433	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		T	36564707	C	T	36564707	2	4	177	1	0	0	0	0	0	0	0	1	14178	610	22	3		3	SFRS3	6	36564707	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	4628004	36564707	134550360	35	12541											
HMGCLL1	54511	broad.mit.edu	37	chr6	55360237	55360237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaagggccgtaaggatatTtgctaaggcttgtccgtatg	9	12	13	7	2	0	1	0	1	0	0	1	2	1	2	2	3	1	4	2	3	5	6			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:55360237T>C	ENST00000398661.2	-	8	996	c.865A>G	c.(865-867)Aat>Gat	p.N289D	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.N156D|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.N227D|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.N259D|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	289					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTAAGGATATTTGCTAAGGCT	0.398																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(865-867)Aat>Gat		Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.							121	109	113					6																	55360237		1892	4113	6005	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360237T>C	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.865A>G	6.37:g.55360237T>C	ENSP00000381654:p.Asn289Asp					HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.3_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.2_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.2_Missense_Mutation_p.N156D	p.N289D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1024	-	Lung NSC(77;0.0875)		289					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.865A>G	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719610	0.89205	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.5	5.5	0.81552	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99042	4.41	0.80722	D	1	D;P;P;D	0.71674	0.998;0.937;0.933;0.994	D;P;D;D	0.83275	0.996;0.877;0.965;0.994	D	0.97346	0.9960	10	0.87932	D	0	-22.7576	15.6081	0.76689	0.0:0.0:0.0:1.0	.	156;227;259;289	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	D	259;289;156;227	ENSP00000274901:N259D;ENSP00000381654:N289D;ENSP00000359887:N156D;ENSP00000309737:N227D	ENSP00000274901:N259D	N	-	1	0	HMGCLL1	55468196	1.000000	0.71417	0.862000	0.33874	0.943000	0.58893	8.020000	0.88740	2.084000	0.62774	0.533000	0.62120	AAT		0.398	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		C	55360237	T	C	55360237	3	2	177	1	0	0	0	0	1	0	0	0	7230	1841	64	4	259	4	HMGCLL1	6	55360237	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	18795530	55360237	115754830	36	12542											
TIAM2	26230	broad.mit.edu	37	chr6	155504465	155504465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttttctgagaagagCgtcggactcactctgattgc	7	12	11	11	2	3	3	1	2	2	2	4	5	3	4	1	1	2	1	1	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:155504465C>G	ENST00000461783.3	+	16	4168	c.2895C>G	c.(2893-2895)agC>agG	p.S965R	TIAM2_ENST00000318981.5_Missense_Mutation_p.S965R|TIAM2_ENST00000360366.4_Missense_Mutation_p.S989R|TIAM2_ENST00000529824.2_Missense_Mutation_p.S965R|TIAM2_ENST00000367174.2_Missense_Mutation_p.S341R|TIAM2_ENST00000456144.1_Missense_Mutation_p.S965R|TIAM2_ENST00000528391.2_Missense_Mutation_p.S301R|TIAM2_ENST00000456877.2_Missense_Mutation_p.S277R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	965	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAAGAGCGTCGGACTCA	0.527																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2893-2895)agC>agG		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							87	87	87					6																	155504465		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155504465C>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2895C>G	6.37:g.155504465C>G	ENSP00000437188:p.Ser965Arg					TIAM2_uc003qqe.3_Missense_Mutation_p.S965R|TIAM2_uc010kjj.3_Missense_Mutation_p.S498R|TIAM2_uc003qqf.3_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.3_Missense_Mutation_p.S277R	p.S965R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	15	4168	+		Ovarian(120;0.196)	965			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2895C>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617586	0.66787	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.67	1.29	0.21616	PDZ/DHR/GLGF (3);	0.212124	0.49916	D	0.000134	T	0.43809	0.1264	L	0.59436	1.845	0.35926	D	0.832178	D;D;D;D	0.76494	0.999;0.992;0.996;0.993	D;P;D;D	0.72338	0.977;0.88;0.911;0.927	T	0.49234	-0.8961	10	0.87932	D	0	.	9.793	0.40717	0.0:0.5417:0.0:0.4583	.	301;965;989;965	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	965;1211;965;965;965;341;989;965;277;301	ENSP00000437188:S965R;ENSP00000434901:S965R;ENSP00000407746:S965R;ENSP00000327315:S965R;ENSP00000356142:S341R;ENSP00000353528:S989R;ENSP00000433348:S965R;ENSP00000407183:S277R;ENSP00000435335:S301R	ENSP00000327315:S965R	S	+	3	2	TIAM2	155546157	0.078000	0.21339	0.994000	0.49952	0.997000	0.91878	-1.221000	0.02968	0.317000	0.23160	0.655000	0.94253	AGC		0.527	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		G	155504465	C	G	155504465	3	3	177	1	0	0	0	0	1	0	0	0	15888	767	27	5	2937	5	TIAM2	6	155504465	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	100144228	155504465	15610602	37	12543											
TMEM195	392636	broad.mit.edu	37	chr7	15425167	15425167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagatgaagatgatgagaaGggaacttctttgccggtgac	12	10	14	5	1	1	6	0	5	1	3	1	9	1	7	1	2	2	0	1	2	3	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:15425167G>A	ENST00000342526.3	-	10	1147	c.978C>T	c.(976-978)ccC>ccT	p.P326P		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	326					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGATGAGAAGGGAACTTCTT	0.368																																						uc003stb.1																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(976-978)ccC>ccT		Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.							98	96	97					7																	15425167		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15425167G>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.978C>T	7.37:g.15425167G>A							p.P326P	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			9	1148	-			326					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.978C>T	CCDS34604.1																																																																																				0.368	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		A	15425167	G	A	15425167	2	1	177	1	0	0	0	0	0	0	0	1	16114	987	35	3		3	TMEM195	7	15425167	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		15425167	143713496	38	12544											
PIK3CG	5294	broad.mit.edu	37	chr7	106508579	106508579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcggaggtggccagccgCgaccccaagctctacgccat	8	5	13	15	4	1	0	0	0	1	0	1	2	1	1	5	4	3	1	5	4	2	1	rs145944814		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:106508579C>T	ENST00000359195.3	+	2	883	c.573C>T	c.(571-573)cgC>cgT	p.R191R	PIK3CG_ENST00000440650.2_Silent_p.R191R|PIK3CG_ENST00000496166.1_Silent_p.R191R	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCAGCCGCGACCCCAAGC	0.612																																						uc003vdv.4																			0		p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(571-573)cgC>cgT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							62	67	65					7																	106508579		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508579C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.573C>T	7.37:g.106508579C>T						PIK3CG_uc003vdu.3_Silent_p.R191R|PIK3CG_uc003vdw.3_Silent_p.R191R	p.R191R	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	658	+			191					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.573C>T	CCDS5739.1																																																																																				0.612	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106508579	C	T	106508579	2	4	177	1	0	0	0	0	0	0	0	1	11916	755	27	1		1	PIK3CG	7	106508579	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	91083412	106508579	52630084	39	12545											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368153	117368153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttacttcactgtcaCttgggcatgcccaggaacta	9	11	9	12	0	2	0	2	0	0	0	2	1	2	1	1	3	3	2	1	3	3	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:117368153C>A	ENST00000160373.3	-	17	4136	c.4045G>T	c.(4045-4047)Gtg>Ttg	p.V1349L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1349					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCACTGTCACTTGGGCATGC	0.493																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4045-4047)Gtg>Ttg		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							78	83	81					7																	117368153		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368153C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4045G>T	7.37:g.117368153C>A	ENSP00000160373:p.Val1349Leu						p.V1349L	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	4137	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1349					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4045G>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.66|15.66	2.899008|2.899008	0.52227|0.52227	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.88509	.|-2.39	5.43|5.43	4.53|4.53	0.55603|0.55603	.|.	.|0.520427	.|0.22968	.|N	.|0.053477	D|D	0.85371|0.85371	0.5681|0.5681	L|L	0.55481|0.55481	1.735|1.735	0.21697|0.21697	N|N	0.999581|0.999581	.|B	.|0.17852	.|0.024	.|B	.|0.12837	.|0.008	T|T	0.77705|0.77705	-0.2488|-0.2488	5|10	.|0.62326	.|D	.|0.03	-0.4957|-0.4957	9.8781|9.8781	0.41216|0.41216	0.0:0.7866:0.1405:0.073|0.0:0.7866:0.1405:0.073	.|.	.|1349	.|Q8WZ74	.|CTTB2_HUMAN	I|L	836|1349	.|ENSP00000160373:V1349L	.|ENSP00000160373:V1349L	S|V	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155389|117155389	0.003000|0.003000	0.15002|0.15002	0.995000|0.995000	0.50966|0.50966	0.968000|0.968000	0.65278|0.65278	1.166000|1.166000	0.31834|0.31834	1.383000|1.383000	0.46405|0.46405	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.493	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117368153	C	A	117368153	3	1	177	1	0	0	0	0	1	0	0	0	4045	565	20	5	974	5	CTTNBP2	7	117368153	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	10859574	117368153	41770510	40	12546											
RNF133	168433	broad.mit.edu	37	chr7	122338662	122338662	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaacctccccgttcaataAgtgcaagccaggtctctgag	11	9	8	13	1	2	1	1	1	1	0	4	1	3	1	4	1	4	2	4	1	5	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:122338662A>C	ENST00000340112.2	-	1	548	c.311T>G	c.(310-312)cTt>cGt	p.L104R	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	104	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCGTTCAATAAGTGCAAGCCA	0.458																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(310-312)cTt>cGt		Homo sapiens ring finger protein 133 (RNF133), mRNA.							155	164	161					7																	122338662		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338662A>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.311T>G	7.37:g.122338662A>C	ENSP00000344489:p.Leu104Arg					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.L104R	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			0	547	-			104			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.311T>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963346	0.74016	.	.	ENSG00000188050	ENST00000340112	T	0.14640	2.49	5.66	5.66	0.87406	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000016	T	0.51618	0.1685	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67875	-0.5557	10	0.87932	D	0	.	14.8721	0.70465	1.0:0.0:0.0:0.0	.	104	Q8WVZ7	RN133_HUMAN	R	104	ENSP00000344489:L104R	ENSP00000344489:L104R	L	-	2	0	RNF133	122125898	1.000000	0.71417	0.883000	0.34634	0.981000	0.71138	7.660000	0.83776	2.153000	0.67306	0.459000	0.35465	CTT		0.458	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		C	122338662	A	C	122338662	3	2	177	1	0	0	0	0	1	0	0	0	13439	72	3	5	823	5	RNF133	7	122338662	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	4970509	122338662	36800001	41	12547											
GCC1	79571	broad.mit.edu	37	chr7	127222596	127222596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagttgctccagttccaaGtccttctcggtgagcacagc	7	10	10	14	2	1	1	0	1	1	0	5	1	4	1	3	1	3	5	3	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:127222596G>A	ENST00000321407.2	-	2	2224	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	600					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAGTTCCAAGTCCTTCTCGG	0.627																																						uc003vma.3																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1798-1800)gaC>gaT		Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.							62	59	60					7																	127222596		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222596G>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1800C>T	7.37:g.127222596G>A							p.D600D	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	2218	-			600					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.1800C>T	CCDS5796.1																																																																																				0.627	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		A	127222596	G	A	127222596	2	1	177	1	0	0	0	0	0	0	0	1	6285	1020	36	3		3	GCC1	7	127222596	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	4883934	127222596	31916067	42	12548											
KEL	3792	broad.mit.edu	37	chr7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcctgtctcctccaCgcacttcatccatcgtgggc	6	10	9	16	3	2	0	1	0	1	0	6	1	4	0	4	1	2	1	4	1	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:142643377C>T	ENST00000355265.2	-	11	1705	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	411					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCTCCTCCACGCACTTCATC	0.567																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1231-1233)Gtg>Atg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							87	74	78					7																	142643377		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142643377C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1231G>A	7.37:g.142643377C>T	ENSP00000347409:p.Val411Met						p.V411M	NM_000420	NP_000411	P23276	KELL_HUMAN			10	1441	-	Melanoma(164;0.059)		411					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1231G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	9.334	1.061309	0.19987	.	.	ENSG00000197993	ENST00000355265	T	0.78003	-1.14	4.48	1.54	0.23209	Peptidase M13 (1);	0.762469	0.11301	N	0.578219	T	0.62085	0.2399	L	0.41824	1.3	0.27440	N	0.953734	P	0.44006	0.824	B	0.34536	0.185	T	0.57843	-0.7741	10	0.72032	D	0.01	-1.8374	4.0324	0.09714	0.1854:0.611:0.0:0.2036	.	411	P23276	KELL_HUMAN	M	411	ENSP00000347409:V411M	ENSP00000347409:V411M	V	-	1	0	KEL	142353499	0.016000	0.18221	0.915000	0.36163	0.177000	0.22998	-0.211000	0.09332	0.475000	0.27415	-0.355000	0.07637	GTG		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142643377	C	T	142643377	3	4	177	1	0	0	0	0	1	0	0	0	8142	536	19	1	1003	1	KEL	7	142643377	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	15420781	142643377	16495286	43	12549											
ADAM7	8756	broad.mit.edu	37	chr8	24324411	24324411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatataacctgagggtgccGtatggtgccaattattcctg	11	12	10	8	1	0	1	0	1	0	0	1	1	1	1	4	2	3	1	4	2	6	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:24324411G>A	ENST00000175238.6	+	6	572	c.489G>A	c.(487-489)ccG>ccA	p.P163P	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.P163P|ADAM7_ENST00000441335.2_Silent_p.P163P	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGGTGCCGTATGGTGCCA	0.388																																						uc003xeb.3																			0		p.V162A(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(487-489)ccG>ccA		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.							110	114	113					8																	24324411		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324411G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.489G>A	8.37:g.24324411G>A						ADAM7_uc003xea.1_Silent_p.P163P	p.P163P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	5	602	+		Prostate(55;0.0181)	163					A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.489G>A	CCDS6045.1																																																																																				0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24324411	G	A	24324411	2	1	177	1	0	0	0	0	0	0	0	1	251	1132	40	1		1	ADAM7	8	24324411	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		24324411	122039611	44	12550											
SLCO5A1	81796	broad.mit.edu	37	chr8	70667740	70667740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatttctccttcagaacatCgtcatcactaacagcatcaa	13	12	4	12	1	5	2	4	1	1	1	7	2	5	2	1	0	3	1	1	0	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:70667740C>T	ENST00000260126.4	-	4	1883	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.D393N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.D393N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	393						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D393N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCAGAACATCGTCATCACTA	0.363																																						uc003xyl.3																			1	Substitution - Missense(1)	p.D393N(2)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1177-1179)Gat>Aat		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							127	110	116					8																	70667740		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667740C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1177G>A	8.37:g.70667740C>T	ENSP00000260126:p.Asp393Asn					SLCO5A1_uc010lzb.3_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	p.D393N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1884	-	Breast(64;0.0654)		393					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1177G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573530	0.65765	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58797	1.14;1.14;0.31	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.319266	0.16286	U	0.221138	T	0.64023	0.2561	N	0.25094	0.71	0.47245	D	0.999363	D;D;P;D	0.67145	0.996;0.98;0.94;0.984	P;B;B;P	0.62184	0.899;0.438;0.257;0.589	T	0.63871	-0.6539	10	0.45353	T	0.12	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	393;393;393;393	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	N	393	ENSP00000260126:D393N;ENSP00000434422:D393N;ENSP00000431611:D393N	ENSP00000260126:D393N	D	-	1	0	SLCO5A1	70830294	1.000000	0.71417	0.969000	0.41365	0.246000	0.25737	7.611000	0.82962	2.786000	0.95864	0.563000	0.77884	GAT		0.363	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		T	70667740	C	T	70667740	3	4	177	1	0	0	0	0	1	0	0	0	14731	884	31	2	1397	2	SLCO5A1	8	70667740	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	46343329	70667740	75696282	45	12551											
MTSS1	9788	broad.mit.edu	37	chr8	125568545	125568545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtgggccgctggcGgtagtgggtcctcccccgtt	2	9	17	13	3	0	0	0	0	0	0	2	0	2	0	4	5	1	5	4	5	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:125568545G>A	ENST00000518547.1	-	12	1805	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Silent_p.T334T|MTSS1_ENST00000325064.5_Silent_p.T448T|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Silent_p.T419T|MTSS1_ENST00000395508.2_Silent_p.T218T|MTSS1_ENST00000354184.4_Silent_p.T162T|MTSS1_ENST00000431961.2_Silent_p.T162T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	444					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCCGCTGGCGGTAGTGGGTC	0.627																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrl.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1342-1344)acC>acT		Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.							81	69	73					8																	125568545		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125568545G>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1332C>T	8.37:g.125568545G>A						NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrk.2_Silent_p.T444T	p.T448T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1878	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		444					J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.1344C>T	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	4.120	0.020460	0.08006	.	.	ENSG00000170873	ENST00000519168;ENST00000523179	.	.	.	4.09	-8.18	0.01053	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.23036	N	0.998397	.	.	.	.	.	.	T	0.09773	-1.0659	4	.	.	.	-0.1937	1.0521	0.01582	0.3964:0.1436:0.2342:0.2258	.	.	.	.	C	232;227	.	.	R	-	1	0	MTSS1	125637726	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.710000	0.01888	-3.418000	0.00167	-1.644000	0.00765	CGC		0.627	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		A	125568545	G	A	125568545	2	1	177	1	0	0	0	0	0	0	0	1	9962	1103	39	2		2	MTSS1	8	125568545	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	54900805	125568545	20795477	46	12552											
CEL	1056	broad.mit.edu	37	chr9	135946656	135946656	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcccacgggtgactccggGgccccccccgtgccgcccac	3	3	12	23	5	0	1	0	1	0	0	1	1	1	1	9	3	1	0	9	3	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:135946656G>C	ENST00000372080.4	+	11	1792	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G	CEL_ENST00000351304.7_Silent_p.G523G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	589	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.811																																						uc010naa.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1774-1776)ggG>ggC		Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.							2	3	3					9																	135946656		1234	3110	4344	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946656G>C	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1776G>C	9.37:g.135946656G>C							p.G592G	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1792	+			589			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.1776G>C	CCDS43896.1																																																																																				0.811	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			C	135946656	G	C	135946656	2	2	177	1	0	0	0	0	0	0	0	1	3209	1219	43	5		5	CEL	9	135946656	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		135946656	5266775	47	12553											
RPL7A	6130	broad.mit.edu	37	chr9	136217156	136217156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtggtgattgcacaCgacgtggatcccatcgaggt	8	9	14	10	3	0	1	0	1	0	0	2	4	1	2	1	4	2	2	1	4	0	1	rs142456845		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:136217156C>T	ENST00000323345.6	+	5	507	c.477C>T	c.(475-477)caC>caT	p.H159H	SNORD24_ENST00000383884.1_RNA|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SNORD36C_ENST00000516733.1_RNA|RPL7A_ENST00000315731.4_Silent_p.H44H|RPL7A_ENST00000463740.1_3'UTR|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000344469.5_5'Flank|SURF1_ENST00000495952.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	159					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													C|||	1	0.000199681	0	0	5008	,	,		20771	0		0.001	False		,,,				2504	0					uc004cde.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(475-477)caC>caT		Homo sapiens ribosomal protein L7a (RPL7A), mRNA.							75	63	67					9																	136217156		2203	4300	6503	SO:0001819	synonymous_variant	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136217156C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.477C>T	9.37:g.136217156C>T						MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	p.H159H	NM_000972	NP_000963	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	4	507	+			159					P11518|Q5T8U4	Silent	SNP	ENST00000323345.6	37	c.477C>T	CCDS6965.1																																																																																				0.522	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		T	136217156	C	T	136217156	2	4	177	1	0	0	0	0	0	0	0	1	13600	535	19	1		1	RPL7A	9	136217156	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	270500	136217156	4996275	48	12554											
SVIL	6840	broad.mit.edu	37	chr10	29751331	29751331	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcttgagattttttcCtgtagttacacagattgcaa	9	18	8	6	0	1	2	0	1	1	2	2	3	2	2	1	1	2	4	1	1	3	8			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr10:29751331C>T	ENST00000355867.4	-	36	7030		c.e36-1		PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Splice_Site|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Splice_Site|SVIL_ENST00000535393.1_Splice_Site	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin						cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGATTTTTTCCTGTAGTTACA	0.468																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.e36-1		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							112	118	116					10																	29751331		2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29751331C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6278-1G>A	10.37:g.29751331C>T						LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	p.G2093_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN			36	7031	-		Breast(68;0.103)	2093					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.6278_splice	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284543	0.40394	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7774	0.88513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVIL	29791337	1.000000	0.71417	0.808000	0.32385	0.174000	0.22865	7.198000	0.77823	2.409000	0.81822	0.655000	0.94253	.		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Intron	T	29751331	C	T	29751331	5	4	177	1	0	0	0	0	0	0	1	0	15418	695	24	3	379	3	SVIL	10	29751331	Splice_Site	SNP	C	TCGA-26-5135-01A-01D-1486-08		29751331	105783416	49	12555											
MUC5B	727897	broad.mit.edu	37	chr11	1250506	1250506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggaccactgtgtggaCggctgcttctgccccccagg	5	8	14	14	2	1	0	0	0	1	0	1	3	1	2	4	4	3	2	4	4	0	1	rs200948745		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:1250506C>T	ENST00000529681.1	+	9	1141	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	MUC5B_ENST00000531082.1_3'UTR|MUC5B_ENST00000447027.1_Silent_p.D361D	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	361	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGTGTGGACGGCTGCTTCT	0.682																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1081-1083)gaC>gaT		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							21	26	25					11																	1250506		2022	4180	6202	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1250506C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1083C>T	11.37:g.1250506C>T						MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.D361D	p.D361D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	8	1142	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	361			TIL 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1083C>T	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1250506	C	T	1250506	2	4	177	1	0	0	0	0	0	0	0	1	9979	535	19	1		1	MUC5B	11	1250506	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		1250506	133756010	50	12556											
GAPDH	2597	broad.mit.edu	37	chr12	6647098	6647098	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcaacagcgacacccacTcctccacctttgacgctggg	9	8	7	17	2	1	1	1	1	0	0	3	2	3	1	4	1	2	1	4	1	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:6647098T>G	ENST00000229239.5	+	8	1540	c.874T>G	c.(874-876)Tcc>Gcc	p.S292A	GAPDH_ENST00000396856.1_Missense_Mutation_p.S217A|GAPDH_ENST00000396859.1_Missense_Mutation_p.S292A|GAPDH_ENST00000396861.1_Missense_Mutation_p.S292A|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Missense_Mutation_p.S250A	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	292					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CGACACCCACTCCTCCACCTT	0.582											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qop.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(874-876)Tcc>Gcc		Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	NADH(DB00157)						45	50	48					12																	6647098		2201	4296	6497	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6647098T>G	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.874T>G	12.37:g.6647098T>G	ENSP00000229239:p.Ser292Ala		OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635		p.S292A	NM_002046	NP_002037	P04406	G3P_HUMAN			7	976	+			292					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.874T>G	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429000	0.62844	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.84	4.84	0.62591	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.89478	3.035	0.41863	D	0.990231	D;D;P;B	0.63046	0.992;0.992;0.808;0.153	D;D;P;B	0.80764	0.994;0.994;0.846;0.174	T	0.82174	-0.0588	10	0.87932	D	0	.	14.4998	0.67714	0.0:0.0:0.0:1.0	.	250;292;217;292	E7EUT4;Q2TSD0;E7EUT5;P04406	.;.;.;G3P_HUMAN	A	292;217;292;292;250	ENSP00000229239:S292A;ENSP00000380065:S217A;ENSP00000380070:S292A;ENSP00000380068:S292A;ENSP00000380067:S250A	ENSP00000229239:S292A	S	+	1	0	GAPDH	6517359	1.000000	0.71417	0.994000	0.49952	0.782000	0.44232	8.010000	0.88615	1.824000	0.53156	0.454000	0.30748	TCC		0.582	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		G	6647098	T	G	6647098	3	3	177	1	0	0	0	0	1	0	0	0	6236	1551	54	5	900	5	GAPDH	12	6647098	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08		6647098	127204797	51	12557											
ATF7IP	55729	broad.mit.edu	37	chr12	14650695	14650695	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaagccacacttgaaGttagcacgcgttcagagtca	12	8	9	12	2	3	3	3	1	0	2	3	3	3	3	2	0	2	3	2	0	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:14650695G>A	ENST00000540793.1	+	14	3656	c.3501G>A	c.(3499-3501)aaG>aaA	p.K1167K	ATF7IP_ENST00000536444.1_Silent_p.K1166K|ATF7IP_ENST00000261168.4_Silent_p.K1167K|ATF7IP_ENST00000544627.1_Silent_p.K1175K			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1167	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACACTTGAAGTTAGCACGCG	0.547																																						uc001rbw.3																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3499-3501)aaG>aaA		Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.							158	133	142					12																	14650695		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650695G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3501G>A	12.37:g.14650695G>A						ATF7IP_uc001rbx.3_Silent_p.K1166K|ATF7IP_uc001rby.4_Silent_p.K1167K|ATF7IP_uc001rca.3_Silent_p.K1167K	p.K1167K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			14	3659	+			1167			Fibronectin type-III.|Interaction with MBD1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3501G>A	CCDS8663.1																																																																																				0.547	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		A	14650695	G	A	14650695	2	1	177	1	0	0	0	0	0	0	0	1	1087	1020	36	3		3	ATF7IP	12	14650695	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	8003597	14650695	119201200	52	12558											
PDE3A	5139	broad.mit.edu	37	chr12	20769164	20769164	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcaagtctctttcctagCgcctgagaaggagtttgcct	9	12	10	10	1	2	1	1	1	1	1	4	3	3	2	3	1	2	1	3	1	4	3	rs532896888		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:20769164C>T	ENST00000359062.3	+	4	1310	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	424					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTTTCCTAGCGCCTGAGAAG	0.428													C|||	1	0.000199681	8e-04	0	5008	,	,		15414	0		0	False		,,,				2504	0					uc001reh.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.e4-1		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						90	89	90					12																	20769164		2203	4300	6503	SO:0001630	splice_region_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769164C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1270-1C>T	12.37:g.20769164C>T						PDE3A_uc021qwa.1_Splice_Site_p.R102_splice	p.R424_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1310	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	424					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1270_splice	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849906	0.91277	.	.	ENSG00000172572	ENST00000359062	T	0.52983	0.64	5.43	5.43	0.79202	.	5.879110	0.00166	N	0.000000	T	0.73233	0.3561	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55970	-0.8056	9	.	.	.	.	19.5966	0.95541	0.0:1.0:0.0:0.0	.	424	Q14432	PDE3A_HUMAN	C	424	ENSP00000351957:R424C	.	R	+	1	0	PDE3A	20660431	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.085000	0.76875	2.698000	0.92095	0.655000	0.94253	CGC		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Missense_Mutation	T	20769164	C	T	20769164	5	4	177	1	0	0	0	0	0	0	1	0	11637	782	27	1	1284	1	PDE3A	12	20769164	Splice_Site	SNP	C	TCGA-26-5135-01A-01D-1486-08	6118469	20769164	113082731	53	12559											
SOAT2	8435	broad.mit.edu	37	chr12	53512677	53512677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattgccgctgcaggacGccctatgtcaggtggaatta	8	9	11	13	2	1	0	1	0	0	0	1	2	1	2	4	3	2	2	4	3	3	3	rs370273183		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:53512677G>A	ENST00000301466.3	+	9	927	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	289					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.T289T(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GCTGCAGGACGCCCTATGTCA	0.532																																						uc001sbv.3																			1	Substitution - coding silent(1)	p.T289T(2)	endometrium(1)	endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(865-867)acG>acA		Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.		G		0,4406		0,0,2203	153	139	144		867	-5.8	0.4	12		144	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SOAT2	NM_003578.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		289/523	53512677	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53512677G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.867G>A	12.37:g.53512677G>A						SOAT2_uc009zms.3_Intron	p.T289T	NM_003578	NP_003569	O75908	SOAT2_HUMAN			8	955	+			289					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.867G>A	CCDS8847.1																																																																																				0.532	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			A	53512677	G	A	53512677	2	1	177	1	0	0	0	0	0	0	0	1	14911	1074	38	1		1	SOAT2	12	53512677	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	32743513	53512677	80339218	54	12560											
EFNB2	1948	broad.mit.edu	37	chr13	107187289	107187289	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccccagcagtacttccaCacggagtcccttctcacagc	10	7	6	18	1	1	0	1	0	1	0	4	1	3	1	4	1	3	2	4	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr13:107187289C>A	ENST00000245323.4	-	1	173	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	8					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AGTACTTCCACACGGAGTCCC	0.542																																						uc001vqi.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(22-24)gtG>gtT		Homo sapiens ephrin-B2 (EFNB2), mRNA.							83	91	88					13																	107187289		2202	4300	6502	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107187289C>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.24G>T	13.37:g.107187289C>A							p.V8V	NM_004093	NP_004084	P52799	EFNB2_HUMAN			0	100	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		8					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.24G>T	CCDS9507.1																																																																																				0.542	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		A	107187289	C	A	107187289	2	1	177	1	0	0	0	0	0	0	0	1	4956	465	17	5		5	EFNB2	13	107187289	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		107187289	7982589	55	12561											
CTSG	1511	broad.mit.edu	37	chr14	25043934	25043934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgattatattgagggtggcGgatggctctgcgcgcagtga	7	11	16	7	3	1	3	0	3	1	0	1	4	1	4	0	4	1	2	0	4	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:25043934G>T	ENST00000216336.2	-	3	322	c.286C>A	c.(286-288)Cgc>Agc	p.R96S		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGAGGGTGGCGGATGGCTCTG	0.532																																						uc001wpq.3																			0		p.R96H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(286-288)Cgc>Agc		Homo sapiens cathepsin G (CTSG), mRNA.							219	175	190					14																	25043934		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043934G>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.286C>A	14.37:g.25043934G>T	ENSP00000216336:p.Arg96Ser						p.R96S	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	323	-			96			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.286C>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328222	0.41197	.	.	ENSG00000100448	ENST00000216336	D	0.92965	-3.14	5.14	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.559992	0.13176	N	0.407885	D	0.85186	0.5639	N	0.16016	0.355	0.37531	D	0.91793	B	0.28178	0.202	B	0.31547	0.132	T	0.82297	-0.0527	10	0.36615	T	0.2	.	11.4846	0.50346	0.0:0.0:0.8199:0.18	.	96	P08311	CATG_HUMAN	S	96	ENSP00000216336:R96S	ENSP00000216336:R96S	R	-	1	0	CTSG	24113774	0.996000	0.38824	0.896000	0.35187	0.017000	0.09413	3.373000	0.52394	1.437000	0.47472	0.655000	0.94253	CGC		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		T	25043934	G	T	25043934	3	4	177	1	0	0	0	0	1	0	0	0	4035	1116	39	5	493	5	CTSG	14	25043934	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		25043934	82305606	56	12562											
LRFN5	145581	broad.mit.edu	37	chr14	42356801	42356801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggatttctcctgaaGggaagcttatttcaaatgca	11	14	8	8	0	3	1	2	1	1	0	4	3	3	3	1	2	2	2	1	2	4	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:42356801G>T	ENST00000298119.4	+	3	2162	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	LRFN5_ENST00000554120.1_Missense_Mutation_p.G325W|LRFN5_ENST00000554171.1_Missense_Mutation_p.G325W	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	325	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTCCTGAAGGGAAGCTTAT	0.453										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(973-975)Ggg>Tgg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							125	122	123					14																	42356801		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356801G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.973G>T	14.37:g.42356801G>T	ENSP00000298119:p.Gly325Trp	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.G325W	p.G325W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2171	+			325			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.973G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314670	0.60524	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.67345	-0.26;-0.26;-0.26	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000024	D	0.88492	0.6451	H	0.97390	3.995	0.80722	D	1	D;D	0.71674	0.989;0.998	D;D	0.85130	0.99;0.997	D	0.92209	0.5774	10	0.87932	D	0	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	325;325	G3V364;Q96NI6	.;LRFN5_HUMAN	W	325	ENSP00000298119:G325W;ENSP00000451897:G325W;ENSP00000451067:G325W	ENSP00000298119:G325W	G	+	1	0	LRFN5	41426551	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.727000	0.74764	2.680000	0.91292	0.563000	0.77884	GGG		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42356801	G	T	42356801	3	4	177	1	0	0	0	0	1	0	0	0	8941	1000	35	5	975	5	LRFN5	14	42356801	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	17312867	42356801	64992739	57	12563											
FOXN3	1112	broad.mit.edu	37	chr14	89647054	89647054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccacttacctcatggccGctgtcaccccaatgggagtg	7	9	9	16	1	2	0	2	0	0	0	3	1	3	1	6	2	1	1	6	2	2	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:89647054G>A	ENST00000345097.4	-	6	1024	c.908C>T	c.(907-909)gCg>gTg	p.A303V	FOXN3_ENST00000557258.1_Missense_Mutation_p.A281V|FOXN3_ENST00000555353.1_Missense_Mutation_p.A281V|FOXN3_ENST00000261302.5_Missense_Mutation_p.A303V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	303					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCATGGCCGCTGTCACCCC	0.637																																						uc001xxo.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(907-909)gCg>gTg		Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.							21	20	20					14																	89647054		2203	4297	6500	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89647054G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.908C>T	14.37:g.89647054G>A	ENSP00000343288:p.Ala303Val					FOXN3_uc001xxn.4_Missense_Mutation_p.A281V|FOXN3_uc010atk.3_Missense_Mutation_p.A281V	p.A303V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			5	1045	-			303					Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.908C>T	CCDS41977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.75|11.75	1.730328|1.730328	0.30684|0.30684	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000557572;ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353|ENST00000553840	D;D;D;D|.	0.95035|.	-3.59;-3.59;-3.42;-3.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.201588|.	0.40728|.	N|.	0.001026|.	T|T	0.51500|0.51500	0.1678|0.1678	N|N	0.22421|0.22421	0.69|0.69	0.45648|0.45648	D|D	0.998574|0.998574	B;B|.	0.15719|.	0.005;0.014|.	B;B|.	0.12156|.	0.002;0.007|.	T|T	0.46133|0.46133	-0.9213|-0.9213	10|5	0.36615|.	T|.	0.2|.	.|.	13.7806|13.7806	0.63081|0.63081	0.0756:0.0:0.9244:0.0|0.0756:0.0:0.9244:0.0	.|.	303;281|.	O00409;O00409-2|.	FOXN3_HUMAN;.|.	V|W	12;303;303;281;281|152	ENSP00000343288:A303V;ENSP00000261302:A303V;ENSP00000452005:A281V;ENSP00000452227:A281V|.	ENSP00000261302:A303V|.	A|R	-|-	2|1	0|2	FOXN3|FOXN3	88716807|88716807	0.980000|0.980000	0.34600|0.34600	0.948000|0.948000	0.38648|0.38648	0.144000|0.144000	0.21451|0.21451	2.784000|2.784000	0.47774|0.47774	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.637	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		A	89647054	G	A	89647054	3	1	177	1	0	0	0	0	1	0	0	0	6021	1087	38	1	572	1	FOXN3	14	89647054	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	47290253	89647054	17702486	58	12564											
BAHD1	22893	broad.mit.edu	37	chr15	40758215	40758215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcccccctctgcagaCtattccaccccaccccaccg	6	8	5	22	1	1	1	0	0	1	1	3	1	3	1	9	1	1	2	9	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:40758215C>T	ENST00000416165.1	+	7	2300	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	BAHD1_ENST00000560846.1_Silent_p.D740D|BAHD1_ENST00000561234.1_Silent_p.D742D|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	743	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTCTGCAGACTATTCCACCC	0.602																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(2227-2229)gaC>gaT		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							136	128	131					15																	40758215		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40758215C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2229C>T	15.37:g.40758215C>T						BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	p.D743D	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	6	2300	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	743			BAH.		Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.2229C>T	CCDS10058.1																																																																																				0.602	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		T	40758215	C	T	40758215	2	4	177	1	0	0	0	0	0	0	0	1	1297	564	20	3		3	BAHD1	15	40758215	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		40758215	61773177	59	12565											
TARSL2	123283	broad.mit.edu	37	chr15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtttccatttccggattgCcctcccaatatgttgaggaa	9	14	8	10	1	0	1	0	1	0	0	3	3	3	3	4	2	1	2	4	2	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:102242566C>T	ENST00000335968.3	-	9	1313	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	366					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353																																						uc002bxm.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1096-1098)gGc>gAc		Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.							132	117	122					15																	102242566		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242566C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1097G>A	15.37:g.102242566C>T	ENSP00000338093:p.Gly366Asp					TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	p.G366D	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1152	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		366					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1097G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174082	0.78452	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.48	4.57	0.56435	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.049228	0.85682	N	0.000000	D	0.82614	0.5075	H	0.98027	4.13	0.80722	D	1	P	0.43314	0.803	P	0.47827	0.558	D	0.86781	0.1979	9	0.59425	D	0.04	-9.0206	12.098	0.53765	0.0:0.917:0.0:0.083	.	366	A2RTX5	SYTC2_HUMAN	D	366;271;366	.	ENSP00000329291:G271D	G	-	2	0	TARSL2	100060089	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	4.767000	0.62286	1.323000	0.45263	0.655000	0.94253	GGC		0.353	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		T	102242566	C	T	102242566	3	4	177	1	0	0	0	0	1	0	0	0	15558	739	26	3	1355	3	TARSL2	15	102242566	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	61484351	102242566	288826	60	12566											
IL32	9235	broad.mit.edu	37	chr16	3119233	3119233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggccctctggaaacagttCcagagtttctgctgctctct	7	12	9	13	0	3	1	0	0	3	1	5	2	4	2	2	2	3	4	2	2	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:3119233C>T	ENST00000534507.1	+	6	793	c.582C>T	c.(580-582)ttC>ttT	p.F194F	IL32_ENST00000526464.2_Silent_p.F148F|IL32_ENST00000552664.1_Silent_p.F148F|IL32_ENST00000529550.1_Silent_p.F148F|IL32_ENST00000531965.1_Silent_p.F138F|IL32_ENST00000549213.1_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000396887.3_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000533097.2_Silent_p.F148F|IL32_ENST00000440815.3_Silent_p.F148F|IL32_ENST00000528163.2_Silent_p.F148F|IL32_ENST00000548476.1_Silent_p.F194F|IL32_ENST00000325568.5_Silent_p.F148F|IL32_ENST00000382213.3_Silent_p.F139F|IL32_ENST00000548652.1_Silent_p.F139F|IL32_ENST00000548246.1_Silent_p.F108F|IL32_ENST00000396890.2_Silent_p.F194F|IL32_ENST00000552356.1_Silent_p.F128F|IL32_ENST00000551513.1_Silent_p.F185F|IL32_ENST00000530538.2_Silent_p.F148F|IL32_ENST00000525643.2_Silent_p.F148F|IL32_ENST00000530890.1_Silent_p.F128F|IL32_ENST00000529699.1_Silent_p.F128F|IL32_ENST00000444393.3_Silent_p.F148F|IL32_ENST00000552936.1_Silent_p.F172F|IL32_ENST00000008180.9_Silent_p.F128F			P24001	IL32_HUMAN	interleukin 32	194					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGAAACAGTTCCAGAGTTTCT	0.612																																						uc002ctq.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(580-582)ttC>ttT		Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.							73	87	82					16																	3119233		2197	4300	6497	SO:0001819	synonymous_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119233C>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.582C>T	16.37:g.3119233C>T						IL32_uc002ctn.3_Silent_p.F148F|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Silent_p.F194F|IL32_uc010uwp.2_Silent_p.F128F|IL32_uc010btb.3_Silent_p.F138F|IL32_uc002ctl.3_Silent_p.F148F|IL32_uc002ctm.3_Silent_p.F148F|IL32_uc002ctp.3_Silent_p.F128F|IL32_uc002ctr.3_Silent_p.F128F|IL32_uc002ctt.3_Silent_p.F148F|IL32_uc010uwr.2_Silent_p.F108F|IL32_uc002ctu.3_Silent_p.F139F|IL32_uc021tbc.1_Intron	p.F194F	NM_004221	NP_004212	P24001	IL32_HUMAN			5	677	+			194					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Silent	SNP	ENST00000534507.1	37	c.582C>T																																																																																					0.612	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		T	3119233	C	T	3119233	2	4	177	1	0	0	0	0	0	0	0	1	7692	854	30	3		3	IL32	16	3119233	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		3119233	87235520	61	12567											
ITGAM	3684	broad.mit.edu	37	chr16	31309135	31309135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggccgctttggggcaGccctaacagtgctgggggac	5	7	17	12	1	0	0	0	0	0	0	0	1	0	1	3	6	3	3	3	6	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:31309135G>T	ENST00000287497.8	+	14	1642	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	ITGAM_ENST00000544665.3_Missense_Mutation_p.A524S			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	523					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGGGGCAGCCCTAACAGT	0.607																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1570-1572)Gcc>Tcc		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							66	72	70					16																	31309135		2180	4287	6467	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309135G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1567G>T	16.37:g.31309135G>T	ENSP00000287497:p.Ala523Ser					ITGAM_uc002ebq.3_Missense_Mutation_p.A523S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Intron	p.A524S	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			13	1668	+			523					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1570G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201300	0.58234	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.23950	1.88;1.88	3.76	3.76	0.43208	.	.	.	.	.	T	0.33847	0.0877	N	0.25485	0.75	0.26964	N	0.96574	P;P	0.48407	0.91;0.91	D;D	0.64410	0.925;0.925	T	0.08330	-1.0727	9	0.30854	T	0.27	.	11.2861	0.49222	0.0:0.0:1.0:0.0	.	523;523	Q4VAK1;P11215	.;ITAM_HUMAN	S	524;523	ENSP00000441691:A524S;ENSP00000287497:A523S	ENSP00000287497:A523S	A	+	1	0	ITGAM	31216636	0.275000	0.24201	1.000000	0.80357	0.982000	0.71751	1.655000	0.37345	2.090000	0.63153	0.655000	0.94253	GCC		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31309135	G	T	31309135	3	4	177	1	0	0	0	0	1	0	0	0	7887	971	34	5	1624	5	ITGAM	16	31309135	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	28189902	31309135	59045618	62	12568											
CHST5	23563	broad.mit.edu	37	chr16	75564025	75564025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaggtagaagacgtcGgggtgctggctgaagagctg	9	8	16	8	2	1	4	1	1	0	3	3	4	2	4	1	4	2	4	1	4	3	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:75564025G>A	ENST00000336257.3	-	3	1652	c.258C>T	c.(256-258)ccC>ccT	p.P86P	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.P92P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(274-276)ccC>ccT		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							40	37	38					16																	75564025		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564025G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.258C>T	16.37:g.75564025G>A						CHST5_uc002fei.3_Silent_p.P86P|CHST5_uc021tlk.1_Silent_p.P86P	p.P92P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	597	-			86					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.276C>T	CCDS10919.1																																																																																				0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		A	75564025	G	A	75564025	2	1	177	1	0	0	0	0	0	0	0	1	3407	1103	39	2		2	CHST5	16	75564025	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	44254890	75564025	14790728	63	12569											
SUPT6H	6830	broad.mit.edu	37	chr17	27010834	27010834	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggaatatgtcataaaGgtgaggacagagactcatga	16	7	12	6	0	2	3	2	2	0	1	2	6	2	5	1	3	0	0	1	3	5	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr17:27010834G>A	ENST00000314616.6	+	17	2512	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	SUPT6H_ENST00000347486.4_Splice_Site_p.K743K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	743	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGTCATAAAGGTGAGGACAG	0.478																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e18+1		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							45	46	45					17																	27010834		2203	4300	6503	SO:0001630	splice_region_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010834G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2229+1G>A	17.37:g.27010834G>A						SUPT6H_uc002hby.3_Splice_Site_p.K743_splice	p.K743_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			18	2421	+	Lung NSC(42;0.00431)		743					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2229_splice	CCDS32596.1																																																																																				0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	Silent	A	27010834	G	A	27010834	5	1	177	1	0	0	0	0	0	0	1	0	15397	1014	35	3	2291	3	SUPT6H	17	27010834	Splice_Site	SNP	G	TCGA-26-5135-01A-01D-1486-08		27010834	54184376	64	12570											
DSG4	147409	broad.mit.edu	37	chr18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataacgctccagtcttttCgcaaagtgtatacacagcca	12	11	7	11	2	1	1	0	1	1	0	3	1	2	1	2	0	3	3	2	0	4	5	rs369555342		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr18:28968937C>T	ENST00000308128.4	+	5	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S158L	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413																																						uc002kwr.2																			1	Substitution - Missense(1)	p.S158L(2)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(472-474)tCg>tTg		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.		C	LEU/SER,LEU/SER	0,4406		0,0,2203	104	100	101		473,473	6.1	0.8	18		101	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	158/1060,158/1041	28968937	1,13003	2203	4299	6502	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968937C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.473C>T	18.37:g.28968937C>T	ENSP00000311859:p.Ser158Leu					DSG4_uc002kwq.2_Missense_Mutation_p.S158L	p.S158L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	608	+			158		Missing (in LAH1).	Cadherin 2.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.473C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263611	0.59431	0.0	1.16E-4	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61040	0.14;0.14	6.11	6.11	0.99139	Cadherin (3);Cadherin-like (1);	0.242046	0.21442	N	0.074461	T	0.56108	0.1963	M	0.69463	2.115	0.32283	N	0.567384	P;P	0.43431	0.807;0.549	B;B	0.36244	0.22;0.158	T	0.64698	-0.6346	10	0.25106	T	0.35	.	18.9147	0.92501	0.0:1.0:0.0:0.0	.	158;158	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	158	ENSP00000311859:S158L;ENSP00000352785:S158L	ENSP00000311859:S158L	S	+	2	0	DSG4	27222935	1.000000	0.71417	0.836000	0.33094	0.845000	0.48019	6.096000	0.71446	2.906000	0.99361	0.655000	0.94253	TCG		0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28968937	C	T	28968937	3	4	177	1	0	0	0	0	1	0	0	0	4779	893	31	2	491	2	DSG4	18	28968937	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08		28968937	49108311	65	12571											
ZNF57	126295	broad.mit.edu	37	chr19	2918067	2918067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgtaaacaatgtggaaAaaccttcacttggtcctcaa	14	11	8	8	0	2	1	2	1	0	0	3	2	3	2	2	2	2	1	2	2	6	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:2918067A>G	ENST00000306908.5	+	4	1596	c.1448A>G	c.(1447-1449)aAa>aGa	p.K483R	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.K451R	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGTGGAAAAACCTTCACT	0.448																																					NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1447-1449)aAa>aGa		Homo sapiens zinc finger protein 57 (ZNF57), mRNA.							107	88	94					19																	2918067		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2918067A>G	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1448A>G	19.37:g.2918067A>G	ENSP00000303696:p.Lys483Arg					ZNF57_uc010xha.2_Missense_Mutation_p.K451R	p.K483R	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1596	+			483					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1448A>G	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416224	0.42918	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.26223	1.75;1.75	2.25	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45316	0.1336	M	0.78049	2.395	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.20371	-1.0277	9	0.62326	D	0.03	.	5.3559	0.16061	0.8405:0.0:0.1595:0.0	.	483	Q68EA5	ZNF57_HUMAN	R	483;485;451	ENSP00000303696:K483R;ENSP00000430223:K451R	ENSP00000303696:K483R	K	+	2	0	ZNF57	2869067	0.948000	0.32251	0.001000	0.08648	0.019000	0.09904	3.737000	0.55060	0.135000	0.18707	0.418000	0.28097	AAA		0.448	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		G	2918067	A	G	2918067	3	3	177	1	0	0	0	0	1	0	0	0	17998	14	1	4	1462	4	ZNF57	19	2918067	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08		2918067	56210916	66	12572											
MUC16	94025	broad.mit.edu	37	chr19	9062081	9062081	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatggatgttcccctagaGgatatcacttctgtcctgga	9	12	10	10	0	2	1	1	0	1	1	4	5	4	4	3	3	0	1	3	3	2	4	rs201528861	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9062081G>C	ENST00000397910.4	-	3	25568	c.25365C>G	c.(25363-25365)tcC>tcG	p.S8455S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8457	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCCCTAGAGGATATCACTT	0.522																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25363-25365)tcC>tcG		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							126	120	122					19																	9062081		1986	4157	6143	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062081G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25365C>G	19.37:g.9062081G>C							p.S8455S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	25569	-			8457			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.25365C>G	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9062081	G	C	9062081	2	2	177	1	0	0	0	0	0	0	0	1	9973	987	35	5		5	MUC16	19	9062081	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	6144014	9062081	50066902	67	12573											
FBXL12	54850	broad.mit.edu	37	chr19	9921682	9921682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccctcccaccccagccCctgcagctcaaggactctga	8	6	7	20	0	2	2	1	2	1	0	3	3	3	3	6	1	3	2	6	1	1	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9921682C>T	ENST00000247977.4	-	3	1112	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.G238R|FBXL12_ENST00000591009.1_Missense_Mutation_p.G238R	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	291					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACCCCAGCCCCTGCAGCTCA	0.612																																						uc002mme.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(871-873)Ggg>Agg		Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.							28	29	29					19																	9921682		2203	4300	6503	SO:0001583	missense	54850						protein binding	g.chr19:9921682C>T	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.871G>A	19.37:g.9921682C>T	ENSP00000247977:p.Gly291Arg					FBXL12_uc002mmd.3_Missense_Mutation_p.G238R|FBXL12_uc002mmf.3_Missense_Mutation_p.G238R|FBXL12_uc002mmg.3_Missense_Mutation_p.G238R	p.G291R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	1113	-			291					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.871G>A	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294064	0.81025	.	.	ENSG00000127452	ENST00000247977	T	0.19806	2.12	4.51	4.51	0.55191	.	0.079672	0.48767	D	0.000161	T	0.27454	0.0674	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.01725	-1.1287	9	.	.	.	.	12.9418	0.58350	0.0:1.0:0.0:0.0	.	291	Q9NXK8	FXL12_HUMAN	R	291	ENSP00000247977:G291R	.	G	-	1	0	FBXL12	9782682	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	3.959000	0.56744	2.509000	0.84616	0.563000	0.77884	GGG		0.612	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		T	9921682	C	T	9921682	3	4	177	1	0	0	0	0	1	0	0	0	5708	623	22	3	113	3	FBXL12	19	9921682	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	859601	9921682	49207301	68	12574											
JAK3	3718	broad.mit.edu	37	chr19	17945947	17945947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcagcttgatgaagggCgggctcccatcagccccctc	7	8	10	16	1	3	2	3	2	0	0	5	2	4	2	3	2	2	2	3	2	1	1	rs200499852		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	uc002nhn.4		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1990-1992)ccG>ccA		Homo sapiens Janus kinase 3 (JAK3), mRNA.		C		0,4406		0,0,2203	49	48	48		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945947C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1992G>A	19.37:g.17945947C>T						JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P664P	p.P664P	NM_000215	NP_000206	P52333	JAK3_HUMAN			14	2092	-			664			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1992G>A	CCDS12366.1																																																																																				0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17945947	C	T	17945947	2	4	177	1	0	0	0	0	0	0	0	1	7939	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	8024265	17945947	41183036	69	12575											
CD22	933	broad.mit.edu	37	chr19	35837570	35837570	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcggcctcaggcacaagaAaatgtggactatgtgatcct	12	8	12	9	1	1	2	1	1	0	1	2	4	2	3	2	3	1	1	2	3	4	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:35837570A>C	ENST00000085219.5	+	14	2580	c.2514A>C	c.(2512-2514)gaA>gaC	p.E838D	CD22_ENST00000270311.6_Missense_Mutation_p.E653D|CD22_ENST00000536635.2_Missense_Mutation_p.E750D|CD22_ENST00000341773.6_Missense_Mutation_p.E661D|CD22_ENST00000419549.2_Missense_Mutation_p.E666D|CD22_ENST00000544992.2_3'UTR|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000594250.1_Missense_Mutation_p.E661D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	838					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCACAAGAAAATGTGGACT	0.552																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2512-2514)gaA>gaC		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						55	47	49					19																	35837570		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837570A>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2514A>C	19.37:g.35837570A>C	ENSP00000085219:p.Glu838Asp					CD22_uc010edu.3_Missense_Mutation_p.E750D|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.E661D|CD22_uc010xst.2_Missense_Mutation_p.E666D|CD22_uc010edx.3_Non-coding_Transcript	p.E838D	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		13	2598	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		838					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2514A>C	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228190	0.39399	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.63580	0.54;0.06;-0.05;0.08;0.62	4.58	2.51	0.30379	.	0.261745	0.27122	N	0.020834	T	0.59985	0.2234	L	0.49126	1.545	0.09310	N	1	B;P;B;P	0.46912	0.289;0.77;0.289;0.886	B;B;B;P	0.50659	0.07;0.417;0.07;0.647	T	0.51513	-0.8696	10	0.49607	T	0.09	.	5.72	0.17982	0.7857:0.0:0.2143:0.0	.	666;750;838;661	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	D	838;750;661;653;666	ENSP00000085219:E838D;ENSP00000442279:E750D;ENSP00000339349:E661D;ENSP00000270311:E653D;ENSP00000403822:E666D	ENSP00000085219:E838D	E	+	3	2	CD22	40529410	0.057000	0.20700	0.016000	0.15963	0.066000	0.16364	0.079000	0.14782	0.321000	0.23259	0.378000	0.23410	GAA		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		C	35837570	A	C	35837570	3	2	177	1	0	0	0	0	1	0	0	0	2985	11	1	5	2564	5	CD22	19	35837570	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	17891623	35837570	23291413	70	12576											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572329	38572329	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttgggattctgggccCagaatggcagcatgtcccag	7	9	12	13	0	1	1	0	0	1	1	3	2	3	2	3	3	1	2	3	3	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:38572329C>T	ENST00000222345.6	+	3	633	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	42					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCTGGGCCCAGAATGGCAG	0.706																																						uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(124-126)Cag>Tag		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.							21	21	21					19																	38572329		2202	4296	6498	SO:0001587	stop_gained	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572329C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.124C>T	19.37:g.38572329C>T	ENSP00000222345:p.Gln42*						p.Q42*	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	633	+			42					Q2TV87	Nonsense_Mutation	SNP	ENST00000222345.6	37	c.124C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188986	0.98125	.	.	ENSG00000105738	ENST00000222345	.	.	.	5.08	5.08	0.68730	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.1685	17.233	0.86990	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000222345:Q42X	Q	+	1	0	SIPA1L3	43264169	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	4.935000	0.63498	2.346000	0.79739	0.563000	0.77884	CAG		0.706	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38572329	C	T	38572329	4	4	177	1	0	0	0	0	0	1	0	0	14331	595	21	3	126	3	SIPA1L3	19	38572329	Nonsense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2734759	38572329	20556654	71	12577											
ZNF285	26974	broad.mit.edu	37	chr19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagtggacttgaagaaCggagcttgaactaaagcact	13	8	10	10	1	0	3	0	2	0	1	1	5	1	5	2	2	4	2	2	2	5	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:44891167C>T	ENST00000330997.4	-	4	1304	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTGAAGAACGGAGCTTGAA	0.488																																						uc010xxa.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						c.(1261-1263)Gtt>Att		Homo sapiens zinc finger protein 285 (ZNF285), mRNA.							50	49	49					19																	44891167		2203	4299	6502	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891167C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1240G>A	19.37:g.44891167C>T	ENSP00000333595:p.Val414Ile					ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V414I	p.V421I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN			3	1304	-			707					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1261G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357751	0.24598	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.15017	2.46	3.36	-4.36	0.03645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.13299	0.325	0.09310	N	1	B;B	0.20671	0.022;0.047	B;B	0.15484	0.005;0.013	T	0.39461	-0.9613	9	0.23302	T	0.38	.	6.0828	0.19950	0.0:0.4365:0.1864:0.3771	.	438;414	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	I	437;414	ENSP00000333595:V414I	ENSP00000333595:V414I	V	-	1	0	ZNF285	49583007	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-4.996000	0.00162	-0.544000	0.06232	0.298000	0.19748	GTT		0.488	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891167	C	T	44891167	3	4	177	1	0	0	0	0	1	0	0	0	17819	536	19	1	536	1	ZNF285	19	44891167	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	6318838	44891167	14237816	72	12578											
CKM	1158	broad.mit.edu	37	chr19	45821144	45821144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttgtagcccccgtggCgatccgagatgatggggtca	6	10	16	9	3	1	2	1	1	0	1	2	4	2	2	3	4	1	2	3	4	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:45821144C>T	ENST00000221476.3	-	3	461	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	96	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCCCGTGGCGATCCGAGAT	0.582																																						uc002pbd.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(286-288)cGc>cAc		Homo sapiens creatine kinase, muscle (CKM), mRNA.	Creatine(DB00148)						133	107	116					19																	45821144		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45821144C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.287G>A	19.37:g.45821144C>T	ENSP00000221476:p.Arg96His						p.R96H	NM_001824	NP_001815	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	2	460	-		Ovarian(192;0.0336)|all_neural(266;0.112)	96			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.287G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001354	0.74818	.	.	ENSG00000104879	ENST00000221476	T	0.65916	-0.18	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.064020	0.64402	D	0.000004	T	0.81697	0.4877	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.85303	0.1074	10	0.59425	D	0.04	-27.7907	15.0581	0.71930	0.0:1.0:0.0:0.0	.	96	P06732	KCRM_HUMAN	H	96	ENSP00000221476:R96H	ENSP00000221476:R96H	R	-	2	0	CKM	50512984	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.236000	0.78154	2.418000	0.82041	0.650000	0.86243	CGC		0.582	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			T	45821144	C	T	45821144	3	4	177	1	0	0	0	0	1	0	0	0	3448	768	27	1	882	1	CKM	19	45821144	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	929977	45821144	13307839	73	12579											
ZNF805	390980	broad.mit.edu	37	chr19	57765629	57765629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatccacactggagagaAgccctatgagtgcatggagt	12	7	12	10	0	0	2	0	1	0	1	1	5	1	4	2	2	3	2	2	2	2	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:57765629A>C	ENST00000414468.2	+	4	1442	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ZNF805_ENST00000535550.1_Missense_Mutation_p.K348T|ZNF805_ENST00000354309.4_Missense_Mutation_p.K348T	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGGAGAGAAGCCCTATGAG	0.527																																						uc010ygt.2																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(1441-1443)aAg>aCg		Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.							55	57	56					19																	57765629		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765629A>C	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1442A>C	19.37:g.57765629A>C	ENSP00000412999:p.Lys481Thr					ZNF805_uc010ygu.2_Missense_Mutation_p.K348T|ZNF805_uc021vcj.1_Missense_Mutation_p.K348T	p.K481T	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN			3	1649	+			481					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.1442A>C	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640104	0.67244	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.24908	1.83;1.83;1.83	4.21	4.21	0.49690	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.52549	0.1741	M	0.84326	2.69	0.30825	N	0.73733	D	0.89917	1.0	D	0.97110	1.0	T	0.61407	-0.7069	10	0.87932	D	0	.	12.6663	0.56844	1.0:0.0:0.0:0.0	.	481	Q5CZA5	ZN805_HUMAN	T	348;481;348	ENSP00000440067:K348T;ENSP00000412999:K481T;ENSP00000365414:K348T	ENSP00000365414:K348T	K	+	2	0	ZNF805	62457441	.	.	1.000000	0.80357	0.997000	0.91878	.	.	1.881000	0.54492	0.460000	0.39030	AAG		0.527	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		C	57765629	A	C	57765629	3	2	177	1	0	0	0	0	1	0	0	0	18169	72	3	5	1456	5	ZNF805	19	57765629	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	11944485	57765629	1363354	74	12580											
GGTLC1	92086	broad.mit.edu	37	chr20	23967182	23967182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgggcttgtagtaggAgatcgggtgagtggtgtcgt	7	11	18	5	3	0	2	0	1	0	1	3	4	0	2	0	4	1	3	0	4	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:23967182A>G	ENST00000335694.4	-	2	271	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	GGTLC1_ENST00000278765.4_Missense_Mutation_p.S23P|GGTLC1_ENST00000286890.4_Missense_Mutation_p.S23P	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	23					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTGTAGTAGGAGATCGGGTGA	0.632																																						uc002wts.3																			0		p.S23Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(67-69)Tcc>Ccc		Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.							67	65	66					20																	23967182		2203	4298	6501	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967182A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.67T>C	20.37:g.23967182A>G	ENSP00000337587:p.Ser23Pro					GGTLC1_uc002wtu.3_Missense_Mutation_p.S23P|DQ583395_uc021wbk.1_5'Flank	p.S23P	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			1	200	-			23					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.67T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	13.27	2.186450	0.38609	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.07688	3.17;3.17;3.17	0.844	-1.69	0.08186	.	0.751002	0.12626	N	0.452640	T	0.15565	0.0375	M	0.66378	2.025	0.20307	N	0.999914	P	0.52316	0.952	P	0.57009	0.811	T	0.10382	-1.0632	10	0.56958	D	0.05	-43.5766	4.5019	0.11869	0.3709:0.6289:0.0:1.0E-4	.	23	Q9BX51	GGTL1_HUMAN	P	23	ENSP00000286890:S23P;ENSP00000278765:S23P;ENSP00000337587:S23P	ENSP00000278765:S23P	S	-	1	0	GGTLC1	23915182	0.017000	0.18338	0.067000	0.19924	0.067000	0.16453	0.015000	0.13355	0.077000	0.16863	0.076000	0.15429	TCC		0.632	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		G	23967182	A	G	23967182	3	3	177	1	0	0	0	0	1	0	0	0	6365	304	11	4	630	4	GGTLC1	20	23967182	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08		23967182	39058338	75	12581											
MATN4	8785	broad.mit.edu	37	chr20	43922452	43922452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcctccaggcgcgcCgtcagctgggccagtgagcg	6	6	14	15	4	1	2	1	1	0	1	4	2	4	2	5	2	2	1	5	2	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:43922452C>T	ENST00000372754.1	-	10	1832	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	MATN4_ENST00000537548.1_Silent_p.T567T|MATN4_ENST00000360607.6_Silent_p.T526T|MATN4_ENST00000353917.5_Silent_p.T485T|MATN4_ENST00000342716.4_Silent_p.T567T|MATN4_ENST00000372756.1_Silent_p.T567T|MATN4_ENST00000372751.4_Silent_p.T418T			O95460	MATN4_HUMAN	matrilin 4	608					extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCAGGCGCGCCGTCAGCTGGG	0.687																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1699-1701)acG>acA		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							27	30	29					20																	43922452		2203	4299	6502	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43922452C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1824G>A	20.37:g.43922452C>T						MATN4_uc002xnp.2_Silent_p.T485T|MATN4_uc002xno.2_Silent_p.T526T	p.T567T	NM_003833	NP_003824	O95460	MATN4_HUMAN			9	1888	-		Myeloproliferative disorder(115;0.0122)	608					A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1701G>A																																																																																					0.687	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			T	43922452	C	T	43922452	2	4	177	1	0	0	0	0	0	0	0	1	9336	639	23	2		2	MATN4	20	43922452	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	19955270	43922452	19103068	76	12582											
FAM65C	140876	broad.mit.edu	37	chr20	49232571	49232571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggtgtctttgtggcGtccagacaggtggtccagct	4	12	13	12	1	1	1	0	0	1	1	4	1	4	1	4	4	1	1	4	4	0	1	rs147229572	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:49232571G>A	ENST00000327979.2	-	4	715	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	MIR1302-5_ENST00000408164.1_RNA|FAM65C_ENST00000045083.2_Missense_Mutation_p.R102C|FAM65C_ENST00000535356.1_Missense_Mutation_p.R106C			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	102								p.R102C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTTTGTGGCGTCCAGACAGG	0.542													G|||	2	0.000399361	0	0	5008	,	,		19561	0		0	False		,,,				2504	0.002					uc010zyt.2																			2	Substitution - Missense(2)	p.R102C(2)	large_intestine(1)|prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(316-318)Cgc>Tgc		Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.		G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	105	91	96		304	-0.7	0.1	20	dbSNP_134	96	0,8600		0,0,4300	no	missense	FAM65C	NM_080829.2	180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	102/947	49232571	4,13002	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49232571G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.304C>T	20.37:g.49232571G>A	ENSP00000332663:p.Arg102Cys					FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R102C|FAM65C_uc002xvn.1_Missense_Mutation_p.R102C	p.R106C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			3	567	-			102					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.316C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474409	0.26423	9.08E-4	0.0	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02216	4.39;4.39;4.39	5.07	-0.7	0.11273	.	0.321942	0.34700	N	0.003757	T	0.01627	0.0052	L	0.27053	0.805	0.22693	N	0.998845	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.43310	-0.9399	10	0.49607	T	0.09	-14.0537	5.2312	0.15422	0.3895:0.0:0.4795:0.131	.	106;102	F5H0X2;Q96MK2	.;FA65C_HUMAN	C	102;102;106	ENSP00000332663:R102C;ENSP00000045083:R102C;ENSP00000439802:R106C	ENSP00000045083:R102C	R	-	1	0	FAM65C	48665978	0.983000	0.35010	0.123000	0.21794	0.734000	0.41952	2.692000	0.47018	-0.057000	0.13199	-0.263000	0.10527	CGC		0.542	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			A	49232571	G	A	49232571	3	1	177	1	0	0	0	0	1	0	0	0	5601	1145	40	1	2612	1	FAM65C	20	49232571	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	5310119	49232571	13792949	77	12583											
TAF4	6874	broad.mit.edu	37	chr20	60572701	60572706	+	In_Frame_Del	DEL	TTTGTG	TTTGTG	-																															gttggcgtcccgctgtctcaTttgtgccagttcctgttgct																								rs200257941		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:60572701_60572706delTTTGTG	ENST00000252996.4	-	14	2989_2994	c.2990_2995delCACAAA	c.(2989-2997)gcacaaatg>gtg	p.997_999AQM>V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	997					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.M999V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCTGTCTCATTTGTGCCAGTTCCTG	0.471																																						uc002ybs.3																			1	Substitution - Missense(1)	p.M999V(2)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2989-2997)gcacaaatg>gtg		Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.																																				SO:0001651	inframe_deletion	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60572701_60572706delTTTGTG	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2990_2995delCACAAA	20.37:g.60572701_60572706delTTTGTG	ENSP00000252996:p.Ala997_Met999delinsVal						p.997_999AQM>V	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		13	2990_2995	-	Breast(26;1e-08)		997					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	In_Frame_Del	DEL	ENST00000252996.4	37	c.2990_2995delCACAAA	CCDS33500.1																																																																																				0.471	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		-	60572706	TTTGTG	-	60572701	7	5	177	1	0	1	0	1	0	0	0	0	15523	1493	52	0	270	0	TAF4	20	60572701	In_Frame_Del	DEL	TTTGTG	TCGA-26-5135-01A-01D-1486-08	11340130	60572701	2452819	78	12584											
PIK3CD	5293	broad.mit.edu	37	chr1	9780231	9780231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaaccccaacacggatagCgccgctgccctgctcatctg	9	7	9	16	3	2	0	1	0	1	0	2	1	2	1	4	1	5	3	4	1	3	2	rs200295565		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:9780231C>T	ENST00000377346.4	+	11	1596	c.1401C>T	c.(1399-1401)agC>agT	p.S467S	PIK3CD_ENST00000543390.1_Silent_p.S134S|PIK3CD_ENST00000361110.2_Silent_p.S432S|PIK3CD_ENST00000536656.1_Silent_p.S432S	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	467	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	ACACGGATAGCGCCGCTGCCC	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		15411	0		0	False		,,,				2504	0					uc001aqe.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1294-1296)agC>agT		Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.							50	49	49					1																	9780231		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780231C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1401C>T	1.37:g.9780231C>T						PIK3CD_uc001aqb.4_Silent_p.S467S|PIK3CD_uc010oaf.2_Silent_p.S467S|PIK3CD_uc021ogb.1_Silent_p.S251S	p.S432S	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	9	1504	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	467					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1296C>T	CCDS104.1																																																																																				0.662	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		T	9780231	C	T	9780231	2	4	178	1	0	0	0	0	0	0	0	1	11915	767	27	1		1	PIK3CD	1	9780231	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		9780231	239470390	1	12585											
MUL1	79594	broad.mit.edu	37	chr1	20828674	20828674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtttctttaacagaccGcacagctcctaagtggacac	12	9	8	12	2	1	1	0	0	1	1	2	2	2	2	2	1	3	3	2	1	3	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:20828674G>A	ENST00000264198.3	-	3	353	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	73					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTAACAGACCGCACAGCTCCT	0.433																																						uc001bdi.4																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(217-219)Cgg>Tgg		Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.							90	91	91					1																	20828674		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828674G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.217C>T	1.37:g.20828674G>A	ENSP00000264198:p.Arg73Trp						p.R73W	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	374	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	73					B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.217C>T	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229176	0.39399	.	.	ENSG00000090432	ENST00000264198	T	0.31510	1.49	6.17	4.24	0.50183	.	0.085304	0.64402	D	0.000003	T	0.32526	0.0832	M	0.63428	1.95	0.53005	D	0.999963	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.72032	D	0.01	-18.4184	12.5638	0.56297	0.0:0.0:0.5373:0.4627	.	73	Q969V5	MUL1_HUMAN	W	73	ENSP00000264198:R73W	ENSP00000264198:R73W	R	-	1	2	MUL1	20701261	0.953000	0.32496	0.969000	0.41365	0.756000	0.42949	2.901000	0.48695	0.856000	0.35383	0.655000	0.94253	CGG		0.433	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		A	20828674	G	A	20828674	3	1	178	1	0	0	0	0	1	0	0	0	9984	1086	38	1	849	1	MUL1	1	20828674	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	11048443	20828674	228421947	2	12586											
ZNF644	84146	broad.mit.edu	37	chr1	91404393	91404393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattaagtttttgcaaaaCgacaacagtcattttatgca	16	13	6	6	1	1	1	1	0	0	1	1	2	1	1	0	0	4	3	0	0	6	5	rs267598765		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:91404393C>T	ENST00000370440.1	-	3	2735	c.2518G>A	c.(2518-2520)Gtt>Att	p.V840I	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.V840I|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	840					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTGCAAAACGACAACAGTC	0.363																																						uc001dnw.3																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2518-2520)Gtt>Att		Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.							69	72	71					1																	91404393		2203	4297	6500	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404393C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2518G>A	1.37:g.91404393C>T	ENSP00000359469:p.Val840Ile					ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.V840I	p.V840I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	2	2801	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	840					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2518G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688640	0.48097	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.53640	0.61;0.61	5.7	5.7	0.88788	.	0.236438	0.34932	N	0.003574	T	0.20941	0.0504	L	0.32530	0.975	0.34770	D	0.733633	P	0.43938	0.822	B	0.30716	0.119	T	0.12708	-1.0537	10	0.37606	T	0.19	-12.4562	16.8263	0.85933	0.0:0.8718:0.1282:0.0	.	840	Q9H582	ZN644_HUMAN	I	840;840;412	ENSP00000359469:V840I;ENSP00000337008:V840I	ENSP00000337008:V840I	V	-	1	0	ZNF644	91176981	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.784000	0.55416	2.692000	0.91855	0.591000	0.81541	GTT		0.363	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		T	91404393	C	T	91404393	3	4	178	1	0	0	0	0	1	0	0	0	18057	536	19	1	1481	1	ZNF644	1	91404393	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	70575719	91404393	157846228	3	12587											
AMPD1	270	broad.mit.edu	37	chr1	115220069	115220069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccactcatcaggactgcGgccatagatggacaggcggg	9	6	14	12	2	2	1	2	0	0	1	3	3	3	3	2	5	1	1	2	5	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:115220069G>A	ENST00000520113.2	-	10	1405	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	AMPD1_ENST00000369538.3_Missense_Mutation_p.R460C|AMPD1_ENST00000353928.6_Missense_Mutation_p.R431C			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	464					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGGACTGCGGCCATAGATG	0.567																																						uc001efe.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1390-1392)Cgc>Tgc		Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						107	91	97					1																	115220069		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115220069G>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1390C>T	1.37:g.115220069G>A	ENSP00000430075:p.Arg464Cys					AMPD1_uc001eff.2_Missense_Mutation_p.R460C	p.R464C	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1438	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	431					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1390C>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219338	0.58560	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82893	-1.66;-1.66;-1.66	5.85	5.85	0.93711	Adenosine/AMP deaminase (1);	0.044093	0.85682	D	0.000000	D	0.84051	0.5387	M	0.81239	2.535	0.80722	D	1	B;P	0.49185	0.16;0.92	B;P	0.48368	0.064;0.575	D	0.86048	0.1524	10	0.59425	D	0.04	-15.5608	14.9543	0.71101	0.0:0.0:0.8573:0.1427	.	460;431	Q5TF02;P23109	.;AMPD1_HUMAN	C	464;460;431	ENSP00000430075:R464C;ENSP00000358551:R460C;ENSP00000316520:R431C	ENSP00000316520:R431C	R	-	1	0	AMPD1	115021592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.753000	0.55180	2.771000	0.95319	0.561000	0.74099	CGC		0.567	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			A	115220069	G	A	115220069	3	1	178	1	0	0	0	0	1	0	0	0	585	1116	39	2	980	2	AMPD1	1	115220069	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	23815676	115220069	134030552	4	12588											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767630	143767630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatagatggacttgtcaccGgtgccattagggtgtgtgaa	9	11	13	8	1	1	2	1	1	0	1	1	3	1	3	3	3	1	0	3	3	3	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:143767630G>A	ENST00000419275.1	-	1	251	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	73	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.T73T(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ACTTGTCACCGGTGCCATTAG	0.468																																						uc001ejt.3																			1	Substitution - coding silent(1)	p.T73T(2)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						c.(217-219)acC>acT		Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.							64	61	62					1																	143767630		1568	3565	5133	SO:0001819	synonymous_variant	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767630G>A		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.219C>T	1.37:g.143767630G>A							p.T73T	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			0	252	-			73			PPIase cyclophilin-type.		A1L431	Silent	SNP	ENST00000419275.1	37	c.219C>T	CCDS41375.1																																																																																				0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		A	143767630	G	A	143767630	2	1	178	1	0	0	0	0	0	0	0	1	12318	1103	39	2		2	PPIAL4G	1	143767630	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	28547561	143767630	105482991	5	12589											
PEAR1	375033	broad.mit.edu	37	chr1	156879622	156879622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgccagctgccagtgtgcCcatgaggcagtctgcagccc	8	7	12	14	0	1	1	0	1	1	0	1	1	1	1	4	1	6	3	4	1	1	0	rs370870570		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:156879622C>T	ENST00000338302.3	+	13	1716	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	PEAR1_ENST00000292357.7_Silent_p.A497A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	497	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTGTGCCCATGAGGCAG	0.662																																						uc001fqj.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1489-1491)gcC>gcT		Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.							48	49	48					1																	156879622		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156879622C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1491C>T	1.37:g.156879622C>T						PEAR1_uc001fqk.1_Silent_p.A122A	p.A497A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			11	1607	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		497			EGF-like 6.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.1491C>T	CCDS30892.1																																																																																				0.662	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156879622	C	T	156879622	2	4	178	1	0	0	0	0	0	0	0	1	11712	610	22	3		3	PEAR1	1	156879622	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	13111992	156879622	92370999	6	12590											
PVRL4	81607	broad.mit.edu	37	chr1	161049529	161049529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggcggctgctccacgCggccctcgtaagccgggctc	3	5	17	16	6	0	0	0	0	0	0	3	0	1	0	3	6	2	4	3	6	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:161049529C>T	ENST00000368012.3	-	2	592	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	97	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCTCCACGCGGCCCTCGTA	0.687																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(289-291)cGc>cAc		Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.							23	24	24					1																	161049529		2182	4276	6458	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049529C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.290G>A	1.37:g.161049529C>T	ENSP00000356991:p.Arg97His						p.R97H	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	589	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		97			Ig-like V-type 1.		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.290G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843901	0.71488	.	.	ENSG00000143217	ENST00000368012	T	0.39406	1.08	5.51	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101080	0.44688	D	0.000433	T	0.27384	0.0672	M	0.71206	2.165	0.80722	D	1	P	0.42757	0.789	B	0.34590	0.186	T	0.36529	-0.9744	10	0.87932	D	0	.	11.3584	0.49630	0.0:0.9128:0.0:0.0872	.	97	Q96NY8	PVRL4_HUMAN	H	97	ENSP00000356991:R97H	ENSP00000356991:R97H	R	-	2	0	PVRL4	159316153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.996000	0.49449	2.574000	0.86865	0.650000	0.86243	CGC		0.687	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		T	161049529	C	T	161049529	3	4	178	1	0	0	0	0	1	0	0	0	12842	768	27	1	1274	1	PVRL4	1	161049529	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	4169907	161049529	88201092	7	12591											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561420	232561420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgaacagaatgtcGttgggcagggcctggtcaag	8	9	17	7	1	1	2	1	1	0	1	2	2	1	2	1	4	2	3	1	4	3	1	rs370081594		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232561420G>A	ENST00000366630.1	-	17	4903	c.4545C>T	c.(4543-4545)aaC>aaT	p.N1515N	SIPA1L2_ENST00000262861.4_Silent_p.N1515N|SIPA1L2_ENST00000308942.4_Silent_p.N589N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1515					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACAGAATGTCGTTGGGCAGGG	0.642																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4543-4545)aaC>aaT		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.		G		1,4403	2.1+/-5.4	0,1,2201	71	85	80		4545	-0.6	1	1		80	0,8590		0,0,4295	no	coding-synonymous	SIPA1L2	NM_020808.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1515/1723	232561420	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232561420G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4545C>T	1.37:g.232561420G>A						SIPA1L2_uc001hvf.3_Silent_p.N589N	p.N1515N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			15	4703	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1515					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.4545C>T	CCDS41474.1																																																																																				0.642	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232561420	G	A	232561420	2	1	178	1	0	0	0	0	0	0	0	1	14330	1136	40	1		1	SIPA1L2	1	232561420	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	71511891	232561420	16689201	8	12592											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagttggaagcctgtcGcaaacactgaatgctcagct	10	9	13	9	1	1	2	1	2	0	0	2	3	1	3	1	2	4	4	1	2	3	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232626679G>A	ENST00000366630.1	-	4	2105	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R583*|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	583					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1747-1749)Cga>Tga		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							137	140	139					1																	232626679		1986	4204	6190	SO:0001587	stop_gained	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232626679G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1747C>T	1.37:g.232626679G>A	ENSP00000355589:p.Arg583*						p.R583*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			2	1905	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	583					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	c.1747C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	42	9.224472	0.99106	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.28	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9199	13.7568	0.62942	0.0:0.0:0.6509:0.3491	.	.	.	.	X	583	.	ENSP00000262861:R583X	R	-	1	2	SIPA1L2	230693302	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.207000	0.42788	0.606000	0.29965	0.650000	0.86243	CGA		0.463	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232626679	G	A	232626679	4	1	178	1	0	0	0	0	0	1	0	0	14330	1095	38	1	3497	1	SIPA1L2	1	232626679	Nonsense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	65259	232626679	16623942	9	12593											
OR2T6	254879	broad.mit.edu	37	chr1	248551010	248551010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggtgtcatttgtgccgTcttcttcatggccatgatag	5	17	10	9	2	4	1	2	1	2	0	5	1	4	1	2	2	1	0	2	2	1	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:248551010T>C	ENST00000355728.2	+	1	101	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V34A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTGTGCCGTCTTCTTCATG	0.463																																						uc001iei.1																			1	Substitution - Missense(1)	p.V34A(2)	lung(1)	endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(100-102)gTc>gCc		Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.							192	168	176					1																	248551010		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551010T>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.101T>C	1.37:g.248551010T>C	ENSP00000347965:p.Val34Ala						p.V34A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	101	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		34					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.101T>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	9.492	1.100955	0.20552	.	.	ENSG00000198104	ENST00000355728	T	0.03358	3.96	4.9	4.9	0.64082	.	1.264950	0.05597	N	0.575585	T	0.06735	0.0172	L	0.55017	1.72	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29701	-1.0003	10	0.72032	D	0.01	.	8.3045	0.32034	0.1764:0.0:0.0:0.8236	.	34	Q8NHC8	OR2T6_HUMAN	A	34	ENSP00000347965:V34A	ENSP00000347965:V34A	V	+	2	0	OR2T6	246617633	0.001000	0.12720	0.767000	0.31495	0.383000	0.30230	1.085000	0.30840	1.962000	0.57031	0.523000	0.50628	GTC		0.463	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		C	248551010	T	C	248551010	3	2	178	1	0	0	0	0	1	0	0	0	11029	1667	58	4	103	4	OR2T6	1	248551010	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	15924331	248551010	699611	10	12594											
MYCN	4613	broad.mit.edu	37	chr2	16082359	16082359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttgagctgctgcccaCgcccccgctgtcgcccagcc	5	7	11	18	3	0	1	0	1	0	0	1	2	0	1	5	0	4	4	5	0	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:16082359C>T	ENST00000281043.3	+	2	470	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000439180.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	58					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTGCTGCCCACGCCCCCGCTG	0.677			A		neuroblastoma																																	uc002rci.3				Dom	yes		2	2p24.1	4613	A	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(172-174)aCg>aTg		Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.							17	20	19					2																	16082359		2200	4300	6500	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082359C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.173C>T	2.37:g.16082359C>T	ENSP00000281043:p.Thr58Met					MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.T58M	p.T58M	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		1	473	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		58					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.173C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370939	0.82573	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.30448	1.53	2.89	2.89	0.33648	Transcription regulator Myc, N-terminal (1);	0.369160	0.30036	N	0.010568	T	0.59376	0.2189	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69851	-0.5033	10	0.66056	D	0.02	-14.876	14.556	0.68101	0.0:1.0:0.0:0.0	.	58	P04198	MYCN_HUMAN	M	58	ENSP00000281043:T58M	ENSP00000281043:T58M	T	+	2	0	MYCN	15999810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.495000	0.81514	1.567000	0.49668	0.561000	0.74099	ACG		0.677	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		T	16082359	C	T	16082359	3	4	178	1	0	0	0	0	1	0	0	0	10021	536	19	1	175	1	MYCN	2	16082359	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		16082359	227117014	11	12595											
SCN9A	6335	broad.mit.edu	37	chr2	167141183	167141183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacaaacagtgagcccCttctgctctcattgtctcca	8	10	9	14	0	3	1	1	1	3	0	5	1	3	1	3	2	3	2	3	2	1	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:167141183C>G	ENST00000409435.1	-	11	1753	c.1754G>C	c.(1753-1755)aGg>aCg	p.R585T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R586T|SCN9A_ENST00000409672.1_Missense_Mutation_p.R585T|SCN9A_ENST00000303354.6_Missense_Mutation_p.R586T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	585					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTGAGCCCCTTCTGCTCTC	0.502																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1753-1755)aGg>aCg		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						108	113	111					2																	167141183		2108	4247	6355	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141183C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1754G>C	2.37:g.167141183C>G	ENSP00000386330:p.Arg585Thr					BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	p.R585T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	2095	-			585					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1754G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462096	0.84425	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96554	-4.0;-4.02;-4.02;-4.02;-4.0;-4.05	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.98375	0.9460	M	0.91872	3.25	0.50039	D	0.999845	P;D;P	0.65815	0.781;0.995;0.578	P;D;B	0.76071	0.68;0.987;0.296	D	0.98855	1.0760	10	0.87932	D	0	.	14.2623	0.66092	0.0:0.9286:0.0:0.0714	.	585;585;586	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	585;586;586;585;450;450	ENSP00000386306:R585T;ENSP00000364536:R586T;ENSP00000304748:R586T;ENSP00000386330:R585T;ENSP00000413212:R450T;ENSP00000393141:R450T	ENSP00000304748:R586T	R	-	2	0	SCN9A	166849429	0.980000	0.34600	1.000000	0.80357	0.988000	0.76386	4.630000	0.61297	2.812000	0.96745	0.557000	0.71058	AGG		0.502	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		G	167141183	C	G	167141183	3	3	178	1	0	0	0	0	1	0	0	0	13925	681	24	5	4243	5	SCN9A	2	167141183	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	151058824	167141183	76058190	12	12596											
COL6A3	1293	broad.mit.edu	37	chr2	238270475	238270475	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcggcaatgttgtcCtaccgaaaggaagagaaacc	12	9	10	10	2	1	1	0	0	1	1	3	4	2	2	3	2	2	3	3	2	5	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:238270475C>G	ENST00000295550.4	-	15	6516		c.e15-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAATGTTGTCCTACCGAAAGG	0.527																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.e15-1		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							66	68	68					2																	238270475		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238270475C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6064-1G>C	2.37:g.238270475C>G						COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	p.D2022_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	15	6349	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2022			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	c.6064_splice	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512128	0.64522	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237935214	1.000000	0.71417	0.996000	0.52242	0.576000	0.36127	7.346000	0.79347	2.513000	0.84729	0.650000	0.86243	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	G	238270475	C	G	238270475	5	3	178	1	0	0	0	0	0	0	1	0	3701	695	24	5	3590	5	COL6A3	2	238270475	Splice_Site	SNP	C	TCGA-26-5136-01B-01D-1486-08	71129292	238270475	4928898	13	12597											
OXSM	54995	broad.mit.edu	37	chr3	25832620	25832620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttttcggaactgtgccaAtatccagattgcataggcga	11	12	10	8	2	0	1	0	0	0	1	2	3	1	2	2	2	3	2	2	2	4	5	rs370766105		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:25832620A>G	ENST00000280701.3	+	2	208	c.109A>G	c.(109-111)Ata>Gta	p.I37V	OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.I37V	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	37					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTGTGCCAATATCCAGATT	0.428													A|||	1	0.000199681	0	0.0014	5008	,	,		23033	0		0	False		,,,				2504	0					uc003cdn.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(109-111)Ata>Gta		Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	157	149	151		109,109	-3.5	0	3		151	0,8600		0,0,4300	no	missense,missense	OXSM	NM_017897.2,NM_001145391.1	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	37/460,37/377	25832620	1,13005	2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832620A>G	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.109A>G	3.37:g.25832620A>G	ENSP00000280701:p.Ile37Val					NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.I37V|OXSM_uc011awp.2_5'UTR	p.I37V	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			1	216	+			37						Missense_Mutation	SNP	ENST00000280701.3	37	c.109A>G	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.305625	0.00240	2.27E-4	0.0	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.14	-3.49	0.04724	.	0.951080	0.08789	N	0.893524	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.29181	-1.0020	9	0.13108	T	0.6	-0.9961	2.4324	0.04475	0.3055:0.2118:0.3692:0.1135	.	37;37	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	V	37	.	ENSP00000280701:I37V	I	+	1	0	OXSM	25807624	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.000000	0.12993	-0.399000	0.07668	0.459000	0.35465	ATA		0.428	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		G	25832620	A	G	25832620	3	3	178	1	0	0	0	0	1	0	0	0	11335	101	4	4	111	4	OXSM	3	25832620	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08		25832620	172189810	14	12598											
PIK3CA	5290	broad.mit.edu	37	chr3	178916882	178916882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaacaagacgactttGtgaccttcggctttttcaac	11	13	8	9	2	1	4	1	3	0	1	2	5	1	4	1	1	2	1	1	1	3	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:178916882G>A	ENST00000263967.3	+	2	426	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	90	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGACGACTTTGTGACCTTCGG	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(268-270)tGt>tAt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							106	101	103					3																	178916882		1820	4077	5897	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916882G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.269G>A	3.37:g.178916882G>A	ENSP00000263967:p.Cys90Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C90Y	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	426	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		90			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.269G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163066	0.78226	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.75367	-0.93;-0.93	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87276	0.2289	9	.	.	.	-21.1026	19.2635	0.93977	0.0:0.0:1.0:0.0	.	90	P42336	PK3CA_HUMAN	Y	90	ENSP00000263967:C90Y;ENSP00000417479:C90Y	.	C	+	2	0	PIK3CA	180399576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	TGT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916882	G	A	178916882	3	1	178	1	0	0	0	0	1	0	0	0	11913	1377	48	3	271	3	PIK3CA	3	178916882	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	153084262	178916882	19105548	15	12599											
UGT2B10	7365	broad.mit.edu	37	chr4	69696492	69696492	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactctttggatgtgattggGttcctgctggcttgtgtggc	3	16	14	8	0	1	1	0	1	1	0	2	2	2	2	1	4	1	3	1	4	0	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:69696492G>T	ENST00000265403.7	+	6	1509	c.1482G>T	c.(1480-1482)ggG>ggT	p.G494G	UGT2B10_ENST00000458688.2_Silent_p.G410G	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	494					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGTGATTGGGTTCCTGCTGG	0.458																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.3																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1480-1482)ggG>ggT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							171	164	166					4																	69696492		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696492G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1482G>T	4.37:g.69696492G>T						UGT2B10_uc011cam.2_Silent_p.G410G	p.G494G	NM_001075	NP_001066	P36537	UDB10_HUMAN			5	1507	+			494					A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1482G>T																																																																																					0.458	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		T	69696492	G	T	69696492	2	4	178	1	0	0	0	0	0	0	0	1	16953	1248	44	5		5	UGT2B10	4	69696492	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08		69696492	121457784	16	12600											
FAM13A	10144	broad.mit.edu	37	chr4	89941642	89941642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaatcgaggctgcaaCgctgaggtgatcagactgtc	11	9	13	8	2	1	5	1	4	0	1	3	6	1	5	0	2	2	3	0	2	3	0	rs147082682	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:89941642C>T	ENST00000264344.5	-	3	603	c.396G>A	c.(394-396)gcG>gcA	p.A132A	FAM13A_ENST00000515600.1_Silent_p.A132A|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_5'UTR|FAM13A_ENST00000509094.1_Silent_p.A132A	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	132	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGGCTGCAACGCTGAGGTGA	0.512																																						uc003hse.1																			0		p.S131*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(394-396)gcG>gcA		Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	67	63	65		396	-8.4	0	4	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM13A	NM_014883.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		132/1024	89941642	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89941642C>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.396G>A	4.37:g.89941642C>T						FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR	p.A132A	NM_014883	NP_055698	O94988	FA13A_HUMAN			2	604	-			132			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.396G>A	CCDS34029.1																																																																																				0.512	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89941642	C	T	89941642	2	4	178	1	0	0	0	0	0	0	0	1	5452	523	19	1		1	FAM13A	4	89941642	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	20245150	89941642	101212634	17	12601											
PTGER4	5734	broad.mit.edu	37	chr5	40681502	40681502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtggacaagcgattggCgggcctcacgctctttgcag	7	9	13	12	4	2	0	1	0	1	0	2	2	2	1	1	3	3	2	1	3	2	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr5:40681502C>T	ENST00000302472.3	+	2	1431	c.407C>T	c.(406-408)gCg>gTg	p.A136V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	136					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	AAGCGATTGGCGGGCCTCACG	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.3																			0		p.A136A(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(406-408)gCg>gTg		Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.							126	126	126					5																	40681502		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681502C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.407C>T	5.37:g.40681502C>T	ENSP00000302846:p.Ala136Val		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.A136V	NM_000958	NP_000949	P35408	PE2R4_HUMAN			1	999	+			136					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.407C>T	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795203	0.90453	.	.	ENSG00000171522	ENST00000302472	T	0.40225	1.04	5.42	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.70108	2.13	0.80722	D	1	D	0.60575	0.988	P	0.58970	0.849	T	0.66184	-0.5987	10	0.87932	D	0	-26.8039	15.7843	0.78291	0.0:0.8633:0.1367:0.0	.	136	P35408	PE2R4_HUMAN	V	136	ENSP00000302846:A136V	ENSP00000302846:A136V	A	+	2	0	PTGER4	40717259	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	5.999000	0.70665	1.227000	0.43598	0.561000	0.74099	GCG		0.597	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		T	40681502	C	T	40681502	3	4	178	1	0	0	0	0	1	0	0	0	12745	768	27	1	409	1	PTGER4	5	40681502	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		40681502	140233758	18	12602											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217321	44217321	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattcatggaggctcttcagGtattgcagttctgtaggcat	8	14	11	8	0	4	0	2	0	2	0	4	1	4	1	0	4	1	6	0	4	2	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr6:44217321G>T	ENST00000371554.1	+	3	568		c.e3+1		HSP90AB1_ENST00000371646.5_Splice_Site|HSP90AB1_ENST00000353801.3_Splice_Site			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1						axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCTTCAGGTATTGCAGTT	0.403																																						uc003oxa.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.e3+1		Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.							82	82	82					6																	44217321		2203	4300	6503	SO:0001630	splice_region_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217321G>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.354+1G>T	6.37:g.44217321G>T						HSP90AB1_uc011dvr.1_Splice_Site_p.Q118_splice|HSP90AB1_uc003oxb.1_Splice_Site_p.Q118_splice|HSP90AB1_uc011dvs.1_Splice_Site|HSP90AB1_uc003oxc.1_5'Flank	p.Q118_splice	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	438	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		118					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Splice_Site	SNP	ENST00000371554.1	37	c.354_splice	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742751	0.69418	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4677	0.87638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSP90AB1	44325299	.	.	1.000000	0.80357	0.874000	0.50279	.	.	2.289000	0.77006	0.561000	0.74099	.		0.403	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	Intron	T	44217321	G	T	44217321	5	4	178	1	0	0	0	0	0	0	1	0	7402	1275	44	5	361	5	HSP90AB1	6	44217321	Splice_Site	SNP	G	TCGA-26-5136-01B-01D-1486-08		44217321	126897746	19	12603											
RABGEF1	27342	broad.mit.edu	37	chr7	66262470	66262470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatgatgagaagaaagaTcttgccattcaaaagagaat	18	9	9	5	0	2	6	1	3	1	4	2	8	2	6	1	0	1	0	1	0	5	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:66262470T>C	ENST00000284957.5	+	6	782	c.705T>C	c.(703-705)gaT>gaC	p.D235D	RABGEF1_ENST00000450873.2_Silent_p.D235D|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Silent_p.D235D|RABGEF1_ENST00000437078.2_Silent_p.D249D|RABGEF1_ENST00000439720.2_Silent_p.D248D|KCTD7_ENST00000451741.2_Silent_p.D235D|KCTD7_ENST00000380828.2_Silent_p.D275D			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	452	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAAGAAAGATCTTGCCATTC	0.358																																						uc003tvf.3																			0		p.A107A(1)|p.A107T(1)|p.S108F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						c.(322-324)gaT>gaC		Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							68	65	66					7																	66262470		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66262470T>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.705T>C	7.37:g.66262470T>C						RABGEF1_uc003tvg.3_Silent_p.D43D|RABGEF1_uc003tvh.3_Silent_p.D235D|RABGEF1_uc010lag.3_Silent_p.D235D|RABGEF1_uc011kee.2_Silent_p.D249D|RABGEF1_uc003tvi.3_Silent_p.D69D	p.D108D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			9	1540	+			452					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.324T>C	CCDS5535.1																																																																																				0.358	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		C	66262470	T	C	66262470	2	2	178	1	0	0	0	0	0	0	0	1	12966	1432	50	4		4	RABGEF1	7	66262470	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08		66262470	92876193	20	12604											
TRIM50	135892	broad.mit.edu	37	chr7	72734159	72734159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacgacgattcgggtcCggttgttcaccagtttggcg	6	11	12	12	5	2	0	2	0	0	0	4	2	3	0	2	3	0	3	2	3	0	4	rs184647228		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:72734159C>T	ENST00000333149.2	-	3	682	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.R161Q	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	161						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GATTCGGGTCCGGTTGTTCAC	0.562													C|||	1	0.000199681	0	0	5008	,	,		18900	0.001		0	False		,,,				2504	0					uc003txy.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(481-483)cGg>cAg		Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.							389	332	351					7																	72734159		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72734159C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.482G>A	7.37:g.72734159C>T	ENSP00000327994:p.Arg161Gln					FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	p.R161Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			2	683	-			161					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.482G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643594	0.29246	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64618	-0.11;-0.11	4.14	4.14	0.48551	.	0.326831	0.24291	N	0.039808	T	0.41604	0.1166	N	0.24115	0.695	0.25621	N	0.986398	P;P	0.51791	0.948;0.913	B;B	0.42112	0.376;0.208	T	0.23691	-1.0181	10	0.13470	T	0.59	.	6.9189	0.24376	0.0:0.7986:0.0:0.2014	.	161;161	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	Q	161	ENSP00000327994:R161Q;ENSP00000413875:R161Q	ENSP00000327994:R161Q	R	-	2	0	TRIM50	72372095	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	2.413000	0.44618	2.042000	0.60477	0.485000	0.47835	CGG		0.562	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		T	72734159	C	T	72734159	3	4	178	1	0	0	0	0	1	0	0	0	16523	652	23	2	1001	2	TRIM50	7	72734159	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	6471689	72734159	86404504	21	12605											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97922864	97922864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccgagcgatcattcGtcacagtcgggcggagtttc	6	10	15	10	5	2	0	2	0	0	0	5	3	2	1	1	3	2	1	1	3	0	2	rs140138864		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:97922864G>A	ENST00000005260.8	-	14	1720	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	502	Binds F-actin.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCGATCATTCGTCACAGTCGG	0.547																																						uc003upj.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1504-1506)aCg>aTg		Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	131	128	129		1505	6.1	1	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense	BAIAP2L1	NM_018842.4	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	502/512	97922864	1,13005	2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97922864G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1505C>T	7.37:g.97922864G>A	ENSP00000005260:p.Thr502Met						p.T502M	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		13	1768	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		502			Binds F-actin.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1505C>T	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639934	0.67244	2.27E-4	0.0	ENSG00000006453	ENST00000005260	T	0.69806	-0.43	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83291	-0.0033	10	0.87932	D	0	-21.7749	19.609	0.95594	0.0:0.0:1.0:0.0	.	502	Q9UHR4	BI2L1_HUMAN	M	502	ENSP00000005260:T502M	ENSP00000005260:T502M	T	-	2	0	AC093799.1	97760800	1.000000	0.71417	0.985000	0.45067	0.006000	0.05464	8.863000	0.92288	2.882000	0.98803	0.655000	0.94253	ACG		0.547	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		A	97922864	G	A	97922864	3	1	178	1	0	0	0	0	1	0	0	0	1302	1145	40	1	34	1	BAIAP2L1	7	97922864	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	25188705	97922864	61215799	22	12606											
RELN	5649	broad.mit.edu	37	chr7	103389896	103389896	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatttggatttaattgcagTtggtggtaggagtcaaagtc	11	15	12	3	0	1	0	1	0	0	0	2	2	1	2	0	4	1	3	0	4	4	7			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:103389896T>C	ENST00000428762.1	-	6	792	c.633A>G	c.(631-633)caA>caG	p.Q211Q	RELN_ENST00000343529.5_Silent_p.Q211Q|RELN_ENST00000424685.2_Silent_p.Q211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	211					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAATTGCAGTTGGTGGTAGG	0.353																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(631-633)caA>caG		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							193	186	188					7																	103389896		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103389896T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.633A>G	7.37:g.103389896T>C						RELN_uc022ajq.1_Silent_p.Q211Q|RELN_uc010liz.3_Silent_p.Q211Q	p.Q211Q	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	5	793	-			211					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.633A>G	CCDS47680.1																																																																																				0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103389896	T	C	103389896	2	2	178	1	0	0	0	0	0	0	0	1	13220	1722	60	4		4	RELN	7	103389896	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08	5467032	103389896	55748767	23	12607											
PARP12	64761	broad.mit.edu	37	chr7	139724367	139724367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcctgtgcgctcactgtCggctgctgaacagggagccc	6	8	12	15	2	1	1	1	1	0	0	3	2	2	2	2	2	4	3	2	2	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:139724367C>T	ENST00000263549.3	-	12	2972	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	700						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGCTCACTGTCGGCTGCTGAA	0.522																																						uc003vvl.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(2098-2100)cGa>cAa		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.							77	66	70					7																	139724367		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724367C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2099G>A	7.37:g.139724367C>T	ENSP00000263549:p.Arg700Gln					PARP12_uc010lnf.1_Non-coding_Transcript	p.R700Q	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			11	2973	-	Melanoma(164;0.0142)		700					Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.2099G>A	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.93|18.93	3.727720|3.727720	0.69074|0.69074	.|.	.|.	ENSG00000059378|ENSG00000059378	ENST00000541746|ENST00000263549	.|T	.|0.08008	.|3.14	4.67|4.67	3.78|3.78	0.43462|0.43462	.|.	.|0.147317	.|0.29737	.|N	.|0.011330	T|T	0.09247|0.09247	0.0228|0.0228	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B	.|0.26081	.|0.141	.|B	.|0.17098	.|0.017	T|T	0.17623|0.17623	-1.0363|-1.0363	6|10	0.62326|0.72032	D|D	0.03|0.01	.|.	11.0652|11.0652	0.47972|0.47972	0.0:0.8119:0.1881:0.0|0.0:0.8119:0.1881:0.0	.|.	.|700	.|Q9H0J9	.|PAR12_HUMAN	N|Q	84|700	.|ENSP00000263549:R700Q	ENSP00000445106:D84N|ENSP00000263549:R700Q	D|R	-|-	1|2	0|0	PARP12|PARP12	139370836|139370836	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.091000|0.091000	0.18340|0.18340	0.499000|0.499000	0.22546|0.22546	1.066000|1.066000	0.40716|0.40716	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.522	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139724367	C	T	139724367	3	4	178	1	0	0	0	0	1	0	0	0	11457	884	31	2	10	2	PARP12	7	139724367	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	36334471	139724367	19414296	24	12608											
OR2F2	135948	broad.mit.edu	37	chr7	143632582	143632582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctgctggcacattttcTtgcagaacataaagccatcc	11	10	7	13	0	1	1	0	0	1	1	2	1	2	1	3	1	5	4	3	1	3	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:143632582T>C	ENST00000408955.2	+	1	324	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCACATTTTCTTGCAGAACAT	0.522																																						uc011ktv.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(256-258)cTt>cCt		Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.							176	172	173					7																	143632582		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632582T>C		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.257T>C	7.37:g.143632582T>C	ENSP00000386222:p.Leu86Pro						p.L86P	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			0	257	+	Melanoma(164;0.0903)		86					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.257T>C	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350851	0.24512	.	.	ENSG00000221910	ENST00000408955	T	0.01446	4.88	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000335	T	0.12433	0.0302	M	0.92077	3.27	0.45762	D	0.998658	D	0.89917	1.0	D	0.91635	0.999	T	0.00763	-1.1576	10	0.46703	T	0.11	-23.4328	10.5724	0.45209	0.0:0.0:0.0:1.0	.	86	O95006	OR2F2_HUMAN	P	86	ENSP00000386222:L86P	ENSP00000386222:L86P	L	+	2	0	OR2F2	143263515	0.617000	0.27043	0.833000	0.33012	0.057000	0.15508	4.533000	0.60615	1.665000	0.50811	0.402000	0.26972	CTT		0.522	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			C	143632582	T	C	143632582	3	2	178	1	0	0	0	0	1	0	0	0	10997	1609	56	4	259	4	OR2F2	7	143632582	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	3908215	143632582	15506081	25	12609											
SLC4A2	6522	broad.mit.edu	37	chr7	150759094	150759094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcagcgcccctcggcGccccgccaagggcgcagatt	7	4	13	17	5	0	2	0	1	0	1	1	2	0	2	5	2	2	2	5	2	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:150759094G>A	ENST00000485713.1	+	2	1060	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SLC4A2_ENST00000413384.2_Missense_Mutation_p.R7H|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R7H|SLC4A2_ENST00000461735.1_5'Flank|SLC4A2_ENST00000392826.2_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	7	Pro-rich.			R -> L (in Ref. 1; CAA44067). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.R7L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCTCGGCGCCCCGCCAAG	0.667																																						uc022apz.1																			1	Substitution - Missense(1)	p.R7L(2)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(19-21)cGc>cAc		Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.							25	27	26					7																	150759094		2203	4298	6501	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150759094G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.20G>A	7.37:g.150759094G>A	ENSP00000419412:p.Arg7His					SLC4A2_uc003wit.4_Missense_Mutation_p.R7H|SLC4A2_uc011kve.2_5'Flank|SLC4A2_uc003wiu.4_5'Flank	p.R7H	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1060	+			7	R -> L (in Ref. 1; CAA44067).		Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.20G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112432	0.56398	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000310317;ENST00000488420	T;T;T;T;T;T;T;T	0.80033	0.52;-1.13;-1.13;1.08;0.55;0.53;-1.33;-0.04	4.69	4.69	0.59074	.	2.103280	0.02303	N	0.071413	T	0.70500	0.3231	L	0.36672	1.1	0.22366	N	0.999168	P	0.48640	0.913	B	0.31337	0.128	T	0.60611	-0.7229	10	0.13108	T	0.6	.	13.0013	0.58676	0.0:0.0:1.0:0.0	.	7	P04920	B3A2_HUMAN	H	7	ENSP00000417808:R7H;ENSP00000419412:R7H;ENSP00000405600:R7H;ENSP00000418114:R7H;ENSP00000419379:R7H;ENSP00000418584:R7H;ENSP00000311402:R7H;ENSP00000417221:R7H	ENSP00000311402:R7H	R	+	2	0	SLC4A2	150390027	0.995000	0.38212	1.000000	0.80357	0.138000	0.21146	1.751000	0.38339	2.424000	0.82194	0.561000	0.74099	CGC		0.667	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		A	150759094	G	A	150759094	3	1	178	1	0	0	0	0	1	0	0	0	14654	1087	38	1	22	1	SLC4A2	7	150759094	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	7126512	150759094	8379569	26	12610											
TRIM14	9830	broad.mit.edu	37	chr9	100857227	100857227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttaaagaagctcttgaCgggctcaaaggagaggggca	12	6	14	9	1	2	3	1	1	1	2	2	4	2	3	1	4	1	3	1	4	4	2	rs149392923	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:100857227C>T	ENST00000341469.2	-	4	631	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TRIM14_ENST00000342043.3_Missense_Mutation_p.V208I|TRIM14_ENST00000375098.3_Missense_Mutation_p.V208I|TRIM14_ENST00000538344.1_5'Flank	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	208					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V208I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582																																					Colon(14;460 597 13826 51781)	uc004ayd.2																			1	Substitution - Missense(1)	p.V208I(2)|p.P207L(1)|p.P207P(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(622-624)Gtc>Atc		Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	102	94	97		622,622,622	1.6	1	9	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	TRIM14	NM_014788.2,NM_033219.1,NM_033220.1	29,29,29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign,benign	208/443,208/443,208/443	100857227	4,13002	2203	4300	6503	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100857227C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.622G>A	9.37:g.100857227C>T	ENSP00000344208:p.Val208Ile					TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I	p.V208I	NM_033220	NP_150089	Q14142	TRI14_HUMAN			3	640	-		Acute lymphoblastic leukemia(62;0.0559)	208					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.622G>A	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	C	7.035	0.561372	0.13498	2.27E-4	3.49E-4	ENSG00000106785	ENST00000375098;ENST00000311688;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.58060	0.36;0.36;0.36	5.49	1.63	0.23807	.	0.513806	0.17658	N	0.166431	T	0.34803	0.0910	L	0.42245	1.32	0.58432	D	0.999996	P;B;B;B	0.50819	0.939;0.014;0.002;0.001	B;B;B;B	0.35931	0.214;0.005;0.001;0.0	T	0.08046	-1.0741	10	0.24483	T	0.36	.	7.9383	0.29944	0.0:0.5876:0.0:0.4124	.	51;208;208;208	F8W956;Q14142-2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	I	208;51;208;208;208;208	ENSP00000364239:V208I;ENSP00000344208:V208I;ENSP00000343990:V208I	ENSP00000307909:V51I	V	-	1	0	TRIM14	99897048	0.001000	0.12720	0.984000	0.44739	0.375000	0.29983	-0.309000	0.08145	0.033000	0.15463	-0.254000	0.11334	GTC		0.582	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		T	100857227	C	T	100857227	3	4	178	1	0	0	0	0	1	0	0	0	16486	536	19	1	718	1	TRIM14	9	100857227	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		100857227	40356204	27	12611											
C9orf163	158055	broad.mit.edu	37	chr9	139379109	139379109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggcggctggtgagggaggGggtgatatccgtgccacgcc	5	6	19	11	4	0	2	0	2	0	0	1	3	1	3	4	6	1	1	4	6	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:139379109G>A	ENST00000354376.1	+	1	1163	c.209G>A	c.(208-210)gGg>gAg	p.G70E		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	70										kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GTGAGGGAGGGGGTGATATCC	0.687																																						uc004chy.3																			0				kidney(1)|lung(1)	2						c.(208-210)gGg>gAg		Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA.							21	23	22					9																	139379109		2200	4298	6498	SO:0001583	missense	158055						protein binding	g.chr9:139379109G>A	AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.209G>A	9.37:g.139379109G>A	ENSP00000346345:p.Gly70Glu					SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank	p.G70E	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)	0	1163	+		Myeloproliferative disorder(178;0.0511)	70						Missense_Mutation	SNP	ENST00000354376.1	37	c.209G>A	CCDS7001.1	.	.	.	.	.	.	.	.	.	.	G	8.628	0.892961	0.17613	.	.	ENSG00000196366	ENST00000354376	T	0.58506	0.33	3.7	1.48	0.22813	.	.	.	.	.	T	0.30262	0.0759	N	0.08118	0	0.09310	N	1	P	0.41393	0.748	B	0.32980	0.156	T	0.12837	-1.0532	9	0.87932	D	0	.	6.1215	0.20155	0.2899:0.0:0.7101:0.0	.	70	Q8N9P6	CI163_HUMAN	E	70	ENSP00000346345:G70E	ENSP00000346345:G70E	G	+	2	0	C9orf163	138498930	0.990000	0.36364	0.001000	0.08648	0.068000	0.16541	0.250000	0.18235	0.153000	0.19213	0.511000	0.50034	GGG		0.687	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254644.1	NM_152571		A	139379109	G	A	139379109	3	1	178	1	0	0	0	0	1	0	0	0	2467	1232	43	3	211	3	C9orf163	9	139379109	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	38521882	139379109	1834322	28	12612											
EPC1	80314	broad.mit.edu	37	chr10	32580102	32580102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatcaccttattaacttTgaactccttcacatccattg	12	16	2	11	0	2	1	2	1	0	0	4	1	4	1	3	0	2	0	3	0	4	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:32580102T>C	ENST00000263062.8	-	6	1233	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	EPC1_ENST00000375110.2_Missense_Mutation_p.K272E|EPC1_ENST00000319778.6_Missense_Mutation_p.K322E	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	322					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTATTAACTTTGAACTCCTTC	0.333																																						uc001iwg.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(964-966)Aaa>Gaa		Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.							133	121	125					10																	32580102		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32580102T>C	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.964A>G	10.37:g.32580102T>C	ENSP00000263062:p.Lys322Glu					EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	p.K322E	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			5	1234	-		Prostate(175;0.0199)	322					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.964A>G	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.597092	0.46318	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.68025	-0.3;-0.3;-0.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.65975	2.015	0.58432	D	0.999995	B;B;B;B	0.30686	0.264;0.29;0.127;0.001	B;B;B;B	0.34590	0.186;0.12;0.087;0.011	T	0.62172	-0.6910	10	0.12103	T	0.63	-17.1925	16.1135	0.81278	0.0:0.0:0.0:1.0	.	322;272;322;322	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	E	272;322;322	ENSP00000364251:K272E;ENSP00000318559:K322E;ENSP00000263062:K322E	ENSP00000263062:K322E	K	-	1	0	EPC1	32620108	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.175000	0.77632	2.267000	0.75376	0.383000	0.25322	AAA		0.333	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			C	32580102	T	C	32580102	3	2	178	1	0	0	0	0	1	0	0	0	5160	1821	63	4	1586	4	EPC1	10	32580102	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08		32580102	102954645	29	12613											
TBC1D12	23232	broad.mit.edu	37	chr10	96163266	96163266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccgccggtgcccttgcCcgccgcggagcagggtcctg	2	5	18	16	5	0	0	0	0	0	0	1	1	1	1	6	5	3	1	6	5	0	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96163266C>A	ENST00000225235.4	+	1	1006	c.896C>A	c.(895-897)cCc>cAc	p.P299H		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	299							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTGCCCTTGCCCGCCGCGGAG	0.692																																						uc001kjr.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(895-897)cCc>cAc		Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.							4	5	5					10																	96163266		1531	3513	5044	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96163266C>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.896C>A	10.37:g.96163266C>A	ENSP00000225235:p.Pro299His						p.P299H	NM_015188	NP_056003	O60347	TBC12_HUMAN			0	1081	+		Colorectal(252;0.0429)	299					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.896C>A	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836080	0.32421	.	.	ENSG00000108239	ENST00000225235	T	0.08370	3.1	3.88	1.9	0.25705	.	0.384013	0.21233	N	0.077942	T	0.07188	0.0182	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.27806	-1.0063	10	0.49607	T	0.09	-3.1751	6.1398	0.20253	0.1854:0.7096:0.0:0.105	.	299	O60347	TBC12_HUMAN	H	299	ENSP00000225235:P299H	ENSP00000225235:P299H	P	+	2	0	TBC1D12	96153256	0.229000	0.23729	0.002000	0.10522	0.060000	0.15804	3.115000	0.50391	0.379000	0.24794	0.462000	0.41574	CCC		0.692	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			A	96163266	C	A	96163266	3	1	178	1	0	0	0	0	1	0	0	0	15598	623	22	5	898	5	TBC1D12	10	96163266	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	63583164	96163266	39371481	30	12614											
C10orf129	142827	broad.mit.edu	37	chr10	96979715	96979715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggaagccattgccacCttatattgtccaggtaggag	9	11	12	9	0	1	0	0	0	1	0	2	2	2	2	4	4	2	1	4	4	4	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96979715C>T	ENST00000394005.3	+	8	1196	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	C10orf129_ENST00000341686.3_Missense_Mutation_p.P396L|C10orf129_ENST00000430183.1_3'UTR			Q6P461	ACSM6_HUMAN		396					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATTGCCACCTTATATTGTC	0.368																																						uc001kke.3																			0				breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1186-1188)cCt>cTt		Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.							132	133	133					10																	96979715		2203	4300	6503	SO:0001583	missense	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96979715C>T																												ENST00000394005.3:c.1187C>T	10.37:g.96979715C>T	ENSP00000377573:p.Pro396Leu					C10orf129_uc009xuu.1_Missense_Mutation_p.P306L	p.P396L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	8	1312	+		Colorectal(252;0.083)	396					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	c.1187C>T	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159148	0.57368	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.10382	2.88;2.88	1.08	1.08	0.20341	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.12860	0.0312	L	0.32530	0.975	0.34671	D	0.723698	D	0.55385	0.971	P	0.59424	0.857	T	0.35871	-0.9771	9	0.15066	T	0.55	.	5.4947	0.16795	0.0:1.0:0.0:0.0	.	396	Q6P461	ACSM6_HUMAN	L	422;396;396	ENSP00000340296:P396L;ENSP00000377573:P396L	ENSP00000340296:P396L	P	+	2	0	C10orf129	96969705	0.904000	0.30761	0.395000	0.26283	0.817000	0.46193	0.391000	0.20784	0.871000	0.35750	0.460000	0.39030	CCT		0.368	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			T	96979715	C	T	96979715	3	4	178	1	0	0	0	0	1	0	0	0	1593	681	24	3	1217	3	C10orf129	10	96979715	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	816449	96979715	38555032	31	12615											
DMBT1	1755	broad.mit.edu	37	chr10	124351971	124351971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccccaggaaatgcccGgtttggccagggctcaggac	7	6	15	13	2	1	0	1	0	0	0	2	2	1	2	4	6	1	2	4	6	1	1	rs199833346		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124351971G>A	ENST00000338354.3	+	20	2466	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R787Q|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R777Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R777Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	787	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.622													G|||	1	0.000199681	0	0	5008	,	,		17838	0		0.001	False		,,,				2504	0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(2359-2361)cGg>cAg		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.		G	,GLN/ARG,GLN/ARG	0,3976		0,0,1988	175	138	150		,2360,2330	-3.3	0	10		150	2,8224		0,2,4111	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,43,43	0,2,6099	AA,AG,GG		0.0243,0.0,0.0164	,probably-damaging,probably-damaging	,787/2414,777/2404	124351971	2,12200	1988	4113	6101	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124351971G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2360G>A	10.37:g.124351971G>A	ENSP00000342210:p.Arg787Gln					DMBT1_uc001lgl.1_Missense_Mutation_p.R777Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R787Q|DMBT1_uc021qag.1_Missense_Mutation_p.R777Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R787Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R400Q	p.R787Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			19	2466	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	787			SRCR 6.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2360G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.842	0.339525	0.11069	0.0	2.43E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.86	-3.27	0.05048	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.16557	0.0398	N	0.12502	0.225	0.09310	N	1	P;B;B;B	0.37276	0.589;0.04;0.04;0.049	B;B;B;B	0.25987	0.065;0.006;0.006;0.01	T	0.14448	-1.0472	9	0.27082	T	0.32	.	6.8244	0.23874	0.6813:0.0:0.1778:0.1409	.	548;787;777;787	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	Q	787;787;787;787;787;787;777;787;777	ENSP00000342210:R787Q;ENSP00000343175:R777Q;ENSP00000357905:R787Q;ENSP00000357951:R777Q	ENSP00000342210:R787Q	R	+	2	0	DMBT1	124341961	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.763000	0.04740	-0.732000	0.04856	-0.259000	0.10710	CGG		0.622	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124351971	G	A	124351971	3	1	178	1	0	0	0	0	1	0	0	0	4577	1116	39	2	2438	2	DMBT1	10	124351971	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	27372256	124351971	11182776	32	12616											
HMX3	340784	broad.mit.edu	37	chr10	124896723	124896723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggaggagagcgactccgagGaaagcaaaaaggaaggcgaa	17	2	16	6	3	0	1	0	0	0	1	1	8	1	4	1	5	2	1	1	5	5	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124896723G>C	ENST00000357878.5	+	2	639	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	184					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACTCCGAGGAAAGCAAAAA	0.677																																						uc010quc.2																			0				lung(4)	4						c.(550-552)Gaa>Caa		Homo sapiens H6 family homeobox 3 (HMX3), mRNA.							12	14	13					10																	124896723		1886	4108	5994	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896723G>C		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.550G>C	10.37:g.124896723G>C	ENSP00000350549:p.Glu184Gln						p.E184Q	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	550	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	184					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.550G>C	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842077	0.91197	.	.	ENSG00000188620	ENST00000357878	D	0.91295	-2.82	4.52	4.52	0.55395	.	0.109585	0.64402	D	0.000010	D	0.85991	0.5826	L	0.29908	0.895	0.80722	D	1	P	0.45044	0.849	B	0.42163	0.378	D	0.85247	0.1042	10	0.28530	T	0.3	.	17.0209	0.86433	0.0:0.0:1.0:0.0	.	184	A6NHT5	HMX3_HUMAN	Q	184	ENSP00000350549:E184Q	ENSP00000350549:E184Q	E	+	1	0	HMX3	124886713	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.611000	0.82962	2.346000	0.79739	0.455000	0.32223	GAA		0.677	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		C	124896723	G	C	124896723	3	2	178	1	0	0	0	0	1	0	0	0	7248	1175	41	5	556	5	HMX3	10	124896723	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	544752	124896723	10638024	33	12617											
PAOX	196743	broad.mit.edu	37	chr10	135197588	135197588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtttgaggagcccttCtgggagccagactgccagct	7	9	14	11	0	1	2	0	1	1	1	1	5	1	5	3	3	4	2	3	3	0	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:135197588C>A	ENST00000278060.5	+	4	1076	c.993C>A	c.(991-993)ttC>ttA	p.F331L	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.F331L|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	469					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGAGCCCTTCTGGGAGCCAG	0.587																																						uc001lmv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(991-993)ttC>ttA		Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.							91	89	90					10																	135197588		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135197588C>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.993C>A	10.37:g.135197588C>A	ENSP00000278060:p.Phe331Leu					PAOX_uc001lmx.3_Missense_Mutation_p.F331L|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	p.F331L	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	3	1073	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	469					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.993C>A	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.951409	0.73787	.	.	ENSG00000148832	ENST00000278060;ENST00000357296	D;D	0.95001	-3.58;-3.58	5.19	4.29	0.51040	.	0.098936	0.64402	D	0.000001	D	0.97383	0.9144	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.928	D	0.97095	0.9793	10	0.72032	D	0.01	-34.6116	7.6778	0.28497	0.0:0.8153:0.0:0.1847	.	331;331	Q6QHF9-4;Q6QHF9-2	.;.	L	331	ENSP00000278060:F331L;ENSP00000349847:F331L	ENSP00000278060:F331L	F	+	3	2	PAOX	135047578	0.999000	0.42202	1.000000	0.80357	0.958000	0.62258	0.663000	0.25053	1.414000	0.47017	0.558000	0.71614	TTC		0.587	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		A	135197588	C	A	135197588	3	1	178	1	0	0	0	0	1	0	0	0	11423	912	32	5	1007	5	PAOX	10	135197588	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	10300865	135197588	337159	34	12618											
PCF11	51585	broad.mit.edu	37	chr11	82878503	82878505	+	In_Frame_Del	DEL	TTG	TTG	-																															aattacacaggatgacttccTtgttgttgtgcatcaaattc																								rs373504788		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:82878503_82878505delTTG	ENST00000298281.4	+	7	2500_2502	c.2048_2050delTTG	c.(2047-2052)cttgtt>ctt	p.V686del		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	686					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATGACTTCCTTGTTGTTGTGCA	0.33																																						uc001ozx.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2047-2052)cttgtt>ctt		Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.																																				SO:0001651	inframe_deletion	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82878503_82878505delTTG	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2048_2050delTTG	11.37:g.82878509_82878511delTTG	ENSP00000298281:p.Val686del					PCF11_uc010rsu.1_In_Frame_Del_p.V686del	p.V686del	NM_015885	NP_056969	O94913	PCF11_HUMAN			6	2393_2395	+			686					A6H8W7|O43671|Q6P0X8	In_Frame_Del	DEL	ENST00000298281.4	37	c.2048_2050delTTG	CCDS44689.1																																																																																				0.33	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		-	82878505	TTG	-	82878503	7	5	178	1	0	1	0	1	0	0	0	0	11573	1609	56	0	2074	0	PCF11	11	82878503	In_Frame_Del	DEL	TTG	TCGA-26-5136-01B-01D-1486-08		82878503	52128013	35	12619											
TRIM49	57093	broad.mit.edu	37	chr11	89531467	89531467	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggatatattgcagcataAgtggggaggtggtaaagaga	13	10	16	2	0	0	1	0	0	0	1	0	4	0	3	0	5	2	3	0	5	5	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:89531467A>T	ENST00000329758.1	-	8	1518	c.1190T>A	c.(1189-1191)cTt>cAt	p.L397H	TRIM49_ENST00000532501.2_Missense_Mutation_p.L320H	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	397	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGCAGCATAAGTGGGGAGGT	0.428																																						uc001pdb.3																			0		p.P396Q(1)|p.P396T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1189-1191)cTt>cAt		Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.							49	54	52					11																	89531467		2111	4284	6395	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89531467A>T	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1190T>A	11.37:g.89531467A>T	ENSP00000327604:p.Leu397His						p.L397H	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			7	1519	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	397			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.1190T>A	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631242	0.28978	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.70749	-0.51	1.21	1.21	0.21127	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78947	0.4364	M	0.75777	2.31	0.09310	N	1	D	0.69078	0.997	D	0.70935	0.971	T	0.63915	-0.6529	8	.	.	.	.	4.6365	0.12527	1.0:0.0:0.0:0.0	.	397	P0CI25	TRI49_HUMAN	H	397;320	ENSP00000327604:L397H	.	L	-	2	0	TRIM49	89171115	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.430000	0.21428	0.822000	0.34565	0.352000	0.21897	CTT		0.428	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		T	89531467	A	T	89531467	3	4	178	1	0	0	0	0	1	0	0	0	16521	72	3	5	172	5	TRIM49	11	89531467	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08	6652964	89531467	45475049	36	12620											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762250	101762250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accaggcatgcagggcgacaCccatcattatcaacatctga	13	7	8	13	1	3	1	2	1	1	0	3	2	3	1	2	2	2	2	2	2	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:101762250C>T	ENST00000334289.3	-	9	1522	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	309	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGGGCGACACCCATCATTAT	0.443																																						uc001pgl.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(925-927)ggG>ggA		Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.							157	137	144					11																	101762250		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762250C>T	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.927G>A	11.37:g.101762250C>T							p.G309G	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1523	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	309			Fibrinogen C-terminal.		A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.927G>A	CCDS8312.1																																																																																				0.443	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		T	101762250	C	T	101762250	2	4	178	1	0	0	0	0	0	0	0	1	617	494	18	3		3	ANGPTL5	11	101762250	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	12230783	101762250	33244266	37	12621											
TSPAN9	10867	broad.mit.edu	37	chr12	3389625	3389625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaacgtggggctgaagaaCgcctggaacatcatccaggc	13	5	12	11	2	1	2	1	1	0	1	2	3	2	3	2	4	4	1	2	4	5	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr12:3389625C>T	ENST00000011898.5	+	6	569	c.408C>T	c.(406-408)aaC>aaT	p.N136N	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.N136N|TSPAN9_ENST00000407263.1_Silent_p.N136N	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	136						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCTGAAGAACGCCTGGAACA	0.657																																						uc001qlp.3																			0		p.K135R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(406-408)aaC>aaT		Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.							122	86	98					12																	3389625		2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3389625C>T	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.408C>T	12.37:g.3389625C>T						TSPAN9_uc021qtd.1_Silent_p.N136N	p.N136N	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		5	591	+			136					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.408C>T	CCDS8520.1																																																																																				0.657	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		T	3389625	C	T	3389625	2	4	178	1	0	0	0	0	0	0	0	1	16651	535	19	1		1	TSPAN9	12	3389625	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		3389625	130462270	38	12622											
PABPC3	5042	broad.mit.edu	37	chr13	25671151	25671151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaaaaaagtggaacGgcagacggaacttaagcgca	17	4	12	8	3	1	2	1	0	0	2	1	4	1	4	0	3	4	3	0	3	6	1	rs368285293		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:25671151G>A	ENST00000281589.3	+	1	852	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	272					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R272Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398																																						uc001upy.3																			1	Substitution - Missense(1)	p.R272Q(2)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(814-816)cGg>cAg		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							157	147	150					13																	25671151		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671151G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.815G>A	13.37:g.25671151G>A	ENSP00000281589:p.Arg272Gln						p.R272Q	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	876	+		Lung SC(185;0.0225)|Breast(139;0.0602)	272					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.815G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676067	0.67928	.	.	ENSG00000151846	ENST00000281589	T	0.06371	3.31	0.875	0.875	0.19130	.	0.000000	0.43416	U	0.000579	T	0.32912	0.0845	H	0.98295	4.195	0.46416	D	0.999035	D	0.89917	1.0	D	0.67548	0.952	T	0.38329	-0.9666	10	0.87932	D	0	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	272	Q9H361	PABP3_HUMAN	Q	272	ENSP00000281589:R272Q	ENSP00000281589:R272Q	R	+	2	0	PABPC3	24569151	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.590000	0.74085	0.759000	0.33084	0.313000	0.20887	CGG		0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671151	G	A	25671151	3	1	178	1	0	0	0	0	1	0	0	0	11365	1116	39	2	817	2	PABPC3	13	25671151	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		25671151	89498727	39	12623											
UGGT2	55757	broad.mit.edu	37	chr13	96530054	96530054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtcactttatcaaagcaTtgtccttccagtagtaagta	11	15	6	9	0	3	0	2	0	1	0	5	0	5	0	2	0	1	4	2	0	5	7			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:96530054T>C	ENST00000376747.3	-	28	3355	c.3285A>G	c.(3283-3285)caA>caG	p.Q1095Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1095					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCAAAGCATTGTCCTTCCA	0.403																																						uc001vmt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(3283-3285)caA>caG		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.							164	157	160					13																	96530054		2203	4300	6503	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96530054T>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3285A>G	13.37:g.96530054T>C						UGGT2_uc001vmu.1_Silent_p.Q182Q	p.Q1095Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			27	3455	-			1095					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.3285A>G	CCDS9480.1																																																																																				0.403	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		C	96530054	T	C	96530054	2	2	178	1	0	0	0	0	0	0	0	1	16939	1490	52	4		4	UGGT2	13	96530054	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08	70858903	96530054	18639824	40	12624											
ADPRHL1	113622	broad.mit.edu	37	chr13	114107590	114107590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatggtgttgtcactcaCgggccattctcctggcgaga	7	11	12	11	2	3	2	2	1	1	1	4	3	3	2	2	3	0	1	2	3	0	2	rs149499588	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:114107590C>T	ENST00000375418.3	-	1	249	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	55					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TTGTCACTCACGGGCCATTCT	0.632																																						uc001vtq.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(163-165)Gtg>Atg		Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	146	124	131		163	5.6	1	13	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADPRHL1	NM_138430.3	21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	55/355	114107590	3,13003	2203	4300	6503	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107590C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.163G>A	13.37:g.114107590C>T	ENSP00000364567:p.Val55Met						p.V55M	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		0	250	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	55					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.163G>A	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139487	0.77775	2.27E-4	2.33E-4	ENSG00000153531	ENST00000375418	T	0.33654	1.4	5.6	5.6	0.85130	.	0.073886	0.56097	D	0.000031	T	0.58949	0.2158	M	0.71036	2.16	0.43994	D	0.996698	D	0.69078	0.997	P	0.61003	0.882	T	0.60964	-0.7158	10	0.66056	D	0.02	-46.111	19.5989	0.95551	0.0:1.0:0.0:0.0	.	55	Q8NDY3	ARHL1_HUMAN	M	55	ENSP00000364567:V55M	ENSP00000364567:V55M	V	-	1	0	ADPRHL1	113155591	1.000000	0.71417	0.981000	0.43875	0.477000	0.33069	4.394000	0.59671	2.639000	0.89480	0.561000	0.74099	GTG		0.632	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		T	114107590	C	T	114107590	3	4	178	1	0	0	0	0	1	0	0	0	332	536	19	1	929	1	ADPRHL1	13	114107590	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	17577536	114107590	1062288	41	12625											
PEX11A	8800	broad.mit.edu	37	chr15	90226620	90226620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaccctaacgggtcttCagcttcatctgaggatatgc	12	10	8	11	1	4	1	2	1	2	0	4	2	4	2	1	2	4	1	1	2	4	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr15:90226620C>T	ENST00000300056.3	-	3	881	c.732G>A	c.(730-732)ctG>ctA	p.L244L	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Silent_p.L213L|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	244					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AACGGGTCTTCAGCTTCATCT	0.453																																						uc002boi.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(730-732)ctG>ctA		Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.							203	209	207					15																	90226620		2200	4299	6499	SO:0001819	synonymous_variant	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226620C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"peroxisomal biogenesis factor 11A"			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.732G>A	15.37:g.90226620C>T						PEX11A_uc010upy.2_Non-coding_Transcript	p.L244L	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	827	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		244					B4DV88	Silent	SNP	ENST00000300056.3	37	c.732G>A	CCDS10354.1																																																																																				0.453	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		T	90226620	C	T	90226620	2	4	178	1	0	0	0	0	0	0	0	1	11737	813	29	3		3	PEX11A	15	90226620	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		90226620	12304772	42	12626											
TIGD7	91151	broad.mit.edu	37	chr16	3349388	3349400	+	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TTCAGGTTCCTTT	-																															tctaagccttgaaaatcataTtcaggttcctttttgtaaag																										TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:3349388_3349400delTTCAGGTTCCTTT	ENST00000396862.1	-	2	3043_3055	c.1215_1227delAAAGGAACCTGAA	c.(1213-1227)aaaaaggaacctgaafs	p.KKEPE405fs	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Frame_Shift_Del_p.KKEPE405fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	405						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA	0.329																																						uc021tcc.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1213-1227)aaaaaggaacctgaafs		Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.																																				SO:0001589	frameshift_variant	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349388_3349400delTTCAGGTTCCTTT	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1215_1227delAAAGGAACCTGAA	16.37:g.3349388_3349400delTTCAGGTTCCTTT	ENSP00000380071:p.Lys405fs					ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.K405fs	p.K405fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN			0	1215_1227	-			405					Q9BXZ0	Frame_Shift_Del	DEL	ENST00000396862.1	37	c.1215_1227delAAAGGAACCTGAA	CCDS10500.1																																																																																				0.329	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		-	3349400	TTCAGGTTCCTTT	-	3349388	7	5	178	1	0	1	0	1	0	0	0	0	15898	1490	52	0	426	0	TIGD7	16	3349388	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TCGA-26-5136-01B-01D-1486-08		3349388	87005365	43	12627											
CDH5	1003	broad.mit.edu	37	chr16	66429972	66429972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcagatactccatcCgcaggaccagtgacaagggc	10	5	12	14	1	0	2	0	1	0	1	2	3	2	3	4	3	1	2	4	3	2	1	rs376317308		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:66429972C>T	ENST00000341529.3	+	8	1376	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATACTCCATCCGCAGGACCAG	0.493																																						uc002eom.4																			0		p.R410H(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1228-1230)Cgc>Tgc		Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.		C	CYS/ARG	0,4402		0,0,2201	82	76	78		1228	5	1	16		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH5	NM_001795.3	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	410/785	66429972	1,13001	2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66429972C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1228C>T	16.37:g.66429972C>T	ENSP00000344115:p.Arg410Cys						p.R410C	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1384	+		Ovarian(137;0.0955)	410			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1228C>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906878	0.72868	0.0	1.16E-4	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.52057	0.68	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69788	0.3150	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.74839	-0.3528	9	0.87932	D	0	.	15.0665	0.71999	0.0:1.0:0.0:0.0	.	410	P33151	CADH5_HUMAN	C	410;151	ENSP00000344115:R410C	ENSP00000344115:R410C	R	+	1	0	CDH5	64987473	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	1.815000	0.38981	2.590000	0.87494	0.561000	0.74099	CGC		0.493	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66429972	C	T	66429972	3	4	178	1	0	0	0	0	1	0	0	0	3113	652	23	2	1254	2	CDH5	16	66429972	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	63080584	66429972	23924781	44	12628											
CDH15	1013	broad.mit.edu	37	chr16	89251737	89251737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaagtggggctggaccGcgaggtgaggtggcgccccg	6	5	20	10	4	0	1	0	1	0	0	0	3	0	2	3	6	1	2	3	6	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:89251737G>A	ENST00000289746.2	+	5	724	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTGGACCGCGAGGTGAGG	0.706																																						uc002fmt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(658-660)cGc>cAc		Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.							37	31	33					16																	89251737		2191	4296	6487	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89251737G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.659G>A	16.37:g.89251737G>A	ENSP00000289746:p.Arg220His					CDH15_uc010cij.1_Missense_Mutation_p.R220H	p.R220H	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	4	736	+			220			Cadherin 2.			Missense_Mutation	SNP	ENST00000289746.2	37	c.659G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050145	0.75846	.	.	ENSG00000129910	ENST00000289746	T	0.60040	0.22	4.72	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000136	T	0.77370	0.4120	M	0.80746	2.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81636	-0.0843	10	0.87932	D	0	.	16.4536	0.84003	0.0:0.0:1.0:0.0	.	220	P55291	CAD15_HUMAN	H	220	ENSP00000289746:R220H	ENSP00000289746:R220H	R	+	2	0	CDH15	87779238	1.000000	0.71417	0.937000	0.37676	0.180000	0.23129	8.972000	0.93424	2.164000	0.68074	0.462000	0.41574	CGC		0.706	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		A	89251737	G	A	89251737	3	1	178	1	0	0	0	0	1	0	0	0	3100	1087	38	1	677	1	CDH15	16	89251737	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	22821765	89251737	1103016	45	12629											
TP53	7157	broad.mit.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagttggcaaaacatCttgttgagggcaggggagta	10	10	15	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	5	1	5	3	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(94)|p.K132R(37)|p.K132E(20)|p.K132Q(13)|p.Y126_K132delYSPALNK(12)|p.N131del(11)|p.K132M(10)|p.N131Y(8)|p.0?(8)|p.N131I(5)|p.K132T(5)|p.K132*(4)|p.N131fs*27(4)|p.N131fs*39(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.N131H(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_N131delALN(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.K132W(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(394-396)aaG>aaT	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							47	48	48					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578534C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.3_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.K93N	p.K132N	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	590	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.396G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578534	C	A	7578534	3	1	178	1	0	0	0	0	1	0	0	0	16378	912	32	5	902	5	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		7578534	73616676	46	12630											
PHF12	57649	broad.mit.edu	37	chr17	27240145	27240145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaggtgtcttgtcagctgTttgcagggaggtggtgactg	5	14	17	5	0	2	1	1	1	1	0	2	2	2	2	0	4	2	4	0	4	1	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:27240145T>C	ENST00000332830.4	-	9	2254	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.T482A|PHF12_ENST00000577226.1_Missense_Mutation_p.T482A	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCAGCTGTTTGCAGGGAG	0.542																																						uc002hdg.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1444-1446)Aca>Gca		Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.							180	152	161					17																	27240145		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27240145T>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1444A>G	17.37:g.27240145T>C	ENSP00000329933:p.Thr482Ala					PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	p.T482A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		8	1974	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		482			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1444A>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	8.525	0.869758	0.17322	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94000	-3.33;-3.29;-3.29	5.55	3.36	0.38483	.	0.399934	0.28072	N	0.016703	T	0.78266	0.4256	N	0.01874	-0.695	0.33773	D	0.623249	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.75274	-0.3375	10	0.13470	T	0.59	-14.6431	7.8404	0.29395	0.0:0.1751:0.0:0.8249	.	464;482;482;482;482	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	A	482	ENSP00000329933:T482A;ENSP00000368157:T482A;ENSP00000268756:T482A	ENSP00000268756:T482A	T	-	1	0	PHF12	24264271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.099000	0.41767	2.113000	0.64589	0.460000	0.39030	ACA		0.542	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		C	27240145	T	C	27240145	3	2	178	1	0	0	0	0	1	0	0	0	11823	1725	60	4	1624	4	PHF12	17	27240145	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	19661611	27240145	53955065	47	12631											
KIF18B	146909	broad.mit.edu	37	chr17	43005601	43005601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatgactgtggctgggCaaacgcgaggggaatggcag	9	9	17	6	2	0	2	0	2	0	0	0	4	0	3	0	5	1	3	0	5	2	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:43005601C>G	ENST00000593135.1	-	13	2166	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S	KIF18B_ENST00000339151.4_Missense_Mutation_p.C693S|KIF18B_ENST00000590129.1_Missense_Mutation_p.C711S|KIF18B_ENST00000438933.2_Missense_Mutation_p.C702S|KIF18B_ENST00000587309.1_Missense_Mutation_p.C702S	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	702					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGCTGGGCAAACGCGAGG	0.647																																						uc010wji.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2077-2079)tGc>tCc		Homo sapiens kinesin family member 18B (KIF18B), mRNA.							28	33	31					17																	43005601		2018	4157	6175	SO:0001583	missense	146909							g.chr17:43005601C>G		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2069G>C	17.37:g.43005601C>G	ENSP00000465992:p.Cys690Ser					KIF18B_uc002iht.3_Missense_Mutation_p.C702S|KIF18B_uc010wjh.2_Missense_Mutation_p.C690S	p.C693S	NM_001080443	NP_001073912					12	2179	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2078G>C	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927707	0.52759	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.75154	-0.88;-0.91	4.39	4.39	0.52855	.	.	.	.	.	D	0.83454	0.5258	M	0.72118	2.19	0.40786	D	0.983218	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.996	T	0.80487	-0.1361	9	0.11794	T	0.64	.	16.7443	0.85468	0.0:1.0:0.0:0.0	.	702;699;711	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	S	702;693;702	ENSP00000412798:C702S;ENSP00000341466:C693S	ENSP00000341466:C693S	C	-	2	0	KIF18B	40361127	1.000000	0.71417	0.998000	0.56505	0.314000	0.28054	3.206000	0.51098	2.275000	0.75901	0.561000	0.74099	TGC		0.647	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		G	43005601	C	G	43005601	3	3	178	1	0	0	0	0	1	0	0	0	8281	710	25	5	504	5	KIF18B	17	43005601	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	15765456	43005601	38189609	48	12632											
EPB41L3	23136	broad.mit.edu	37	chr18	5415838	5415838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcctctgaactgtcactCgggtcattgtctagggaggc	6	13	11	11	1	5	1	2	1	3	0	7	2	6	2	1	3	1	0	1	3	2	3	rs549355143		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:5415838C>T	ENST00000341928.2	-	13	2386	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.P682P|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	682	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACTGTCACTCGGGTCATTGT	0.582													C|||	1	0.000199681	0	0	5008	,	,		19746	0		0	False		,,,				2504	0.001					uc002kmt.1																			0		p.D681Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2044-2046)ccG>ccA		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							77	78	77					18																	5415838		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415838C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2046G>A	18.37:g.5415838C>T						EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.P682P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			12	2132	-			682			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2046G>A	CCDS11838.1																																																																																				0.582	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5415838	C	T	5415838	2	4	178	1	0	0	0	0	0	0	0	1	5154	871	31	2		2	EPB41L3	18	5415838	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		5415838	72661410	49	12633											
KIAA0802	23255	broad.mit.edu	37	chr18	8786006	8786020	+	In_Frame_Del	DEL	CGAGCCGCGCGGGAG	CGAGCCGCGCGGGAG	-																															agcgggagagcctgcgcctcCgagccgcgcgggagctgcac																								rs373316781|rs201426677|rs201927020|rs200305032|rs569097168|rs536482836	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:8786006_8786020delCGAGCCGCGCGGGAG	ENST00000306329.11	+	6	2884_2898	c.2884_2898delCGAGCCGCGCGGGAG	c.(2884-2898)cgagccgcgcgggagdel	p.RAARE962del	SOGA2_ENST00000517570.1_In_Frame_Del_p.RAARE602del|SOGA2_ENST00000359865.3_In_Frame_Del_p.RAARE602del|SOGA2_ENST00000400050.3_In_Frame_Del_p.RAARE602del|SOGA2_ENST00000306285.7_5'UTR																							CCTGCGCCTCCGAGCCGCGCGGGAGCTGCACCGCC	0.707														6	0.00119808	0	0	5008	,	,		9708	0		0.005	False		,,,				2504	0.001					uc002knr.2																			0											c.(1804-1818)cgagccgcgcgggagdel		Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.				10,4218		0,10,2104						-4	0			15	63,8101		1,61,4020	no	coding	CCDC165	NM_015210.3		1,71,6124	A1A1,A1R,RR		0.7717,0.2365,0.5891				73,12319				SO:0001651	inframe_deletion	23255							g.chr18:8786006_8786020delCGAGCCGCGCGGGAG																												ENST00000306329.11:c.2884_2898delCGAGCCGCGCGGGAG	18.37:g.8786006_8786020delCGAGCCGCGCGGGAG	ENSP00000305027:p.Arg962_Glu966del					SOGA2_uc002knq.2_In_Frame_Del_p.RAARE602del|SOGA2_uc010dkw.1_In_Frame_Del_p.RAARE440del	p.RAARE602del	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	1946_1960	+			953						In_Frame_Del	DEL	ENST00000306329.11	37	c.1804_1818delCGAGCCGCGCGGGAG																																																																																					0.707	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			-	8786020	CGAGCCGCGCGGGAG	-	8786006	7	5	178	1	0	1	0	1	0	0	0	0	8194	644	23	0	1822	0	KIAA0802	18	8786006	In_Frame_Del	DEL	CGAGCCGCGCGGGAG	TCGA-26-5136-01B-01D-1486-08	3370168	8786006	69291242	50	12634											
NWD1	284434	broad.mit.edu	37	chr19	16860196	16860196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcctgccgtggagccGcgacttggtgaaccccaaga	8	5	12	16	4	0	2	0	1	0	1	0	4	0	3	7	2	3	0	7	2	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:16860196G>A	ENST00000552788.1	+	4	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NWD1_ENST00000524140.2_Missense_Mutation_p.R248H|NWD1_ENST00000523826.1_Missense_Mutation_p.R42H|NWD1_ENST00000379808.3_Missense_Mutation_p.R248H|NWD1_ENST00000339803.6_Missense_Mutation_p.R113H|NWD1_ENST00000549814.1_Missense_Mutation_p.R248H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	248							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGTGGAGCCGCGACTTGGTG	0.597																																						uc002neu.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(742-744)cGc>cAc		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.							49	47	48					19																	16860196		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860196G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.743G>A	19.37:g.16860196G>A	ENSP00000447224:p.Arg248His					NWD1_uc002net.4_Missense_Mutation_p.R113H|NWD1_uc002nev.4_Missense_Mutation_p.R42H|NWD1_uc021uqg.1_Missense_Mutation_p.R113H	p.R248H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN			5	1165	+			248					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.743G>A		.	.	.	.	.	.	.	.	.	.	g	14.11	2.438928	0.43326	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58358	0.34;0.4;0.34;0.35;0.38;0.38	4.35	3.04	0.35103	.	0.272175	0.31797	N	0.007057	T	0.46678	0.1405	N	0.24115	0.695	0.33518	D	0.591975	D;D;D	0.76494	0.999;0.997;0.995	P;P;P	0.58873	0.813;0.847;0.707	T	0.54675	-0.8258	10	0.35671	T	0.21	-23.9941	5.3419	0.15988	0.1988:0.0:0.8012:0.0	.	248;248;113	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	113;248;248;248;42;248;113	ENSP00000428579:R248H;ENSP00000447548:R248H;ENSP00000369136:R248H;ENSP00000428955:R42H;ENSP00000447224:R248H;ENSP00000340159:R113H	ENSP00000340159:R113H	R	+	2	0	NWD1	16721196	0.163000	0.22920	0.957000	0.39632	0.092000	0.18411	0.469000	0.22067	2.139000	0.66308	0.637000	0.83480	CGC		0.597	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16860196	G	A	16860196	3	1	178	1	0	0	0	0	1	0	0	0	10781	1087	38	1	344	1	NWD1	19	16860196	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		16860196	42268787	51	12635											
MAST3	23031	broad.mit.edu	37	chr19	18218415	18218415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctgagcctgccaCgccgaggacgtgggtgagtt	9	6	17	9	3	0	3	0	2	0	1	0	6	0	5	3	3	3	2	3	3	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:18218415C>T	ENST00000262811.6	+	2	58	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	20							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GAGCCTGCCACGCCGAGGACG	0.572																																						uc002nhz.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(58-60)Cgc>Tgc		Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.							105	113	111					19																	18218415		1960	4145	6105	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18218415C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.58C>T	19.37:g.18218415C>T	ENSP00000262811:p.Arg20Cys						p.R20C	NM_015016	NP_055831	O60307	MAST3_HUMAN			1	58	+			20					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.58C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736057	0.69189	.	.	ENSG00000099308	ENST00000262811	T	0.72394	-0.65	4.29	4.29	0.51040	.	.	.	.	.	T	0.65647	0.2711	L	0.51422	1.61	0.41473	D	0.988114	B	0.09022	0.002	B	0.08055	0.003	T	0.67138	-0.5746	9	0.87932	D	0	-0.0014	13.8648	0.63581	0.0:1.0:0.0:0.0	.	20	O60307	MAST3_HUMAN	C	20	ENSP00000262811:R20C	ENSP00000262811:R20C	R	+	1	0	MAST3	18079415	0.993000	0.37304	0.957000	0.39632	0.969000	0.65631	3.965000	0.56788	2.103000	0.63969	0.561000	0.74099	CGC		0.572	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		T	18218415	C	T	18218415	3	4	178	1	0	0	0	0	1	0	0	0	9326	536	19	1	64	1	MAST3	19	18218415	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	1358219	18218415	40910568	52	12636											
MLL4	9757	broad.mit.edu	37	chr19	36224327	36224327	+	Frame_Shift_Del	DEL	C	C	-																															gccggtccccgccagcacctCccccatacaaagccccccgg																								rs187370444		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:36224327delC	ENST00000222270.7	+	28	6877	c.6877delC	c.(6877-6879)cccfs	p.P2294fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.P2294fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2294					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCAGCACCTCCCCCATACAA	0.682																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(6877-6879)cccfs		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.																																				SO:0001589	frameshift_variant	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36224327delC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6877delC	19.37:g.36224327delC	ENSP00000222270:p.Pro2294fs	HNSCC(34;0.089)				MLL2_uc021usu.1_Frame_Shift_Del_p.P1107fs	p.P2293fs	NM_014727	NP_055542	O14686	MLL2_HUMAN			27	6877	+			863			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.6877delC	CCDS46055.1																																																																																				0.682	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		-	36224327	C	-	36224327	7	5	178	1	0	1	0	1	0	0	0	0	9623	855	30	0	6987	0	MLL4	19	36224327	Frame_Shift_Del	DEL	C	TCGA-26-5136-01B-01D-1486-08	18005912	36224327	22904656	53	12637											
CD33	945	broad.mit.edu	37	chr19	51742917	51742917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccaaggacacctccaccGaatactcagaggtcaggacc	12	6	8	15	1	2	1	2	0	0	1	4	4	4	3	5	3	1	0	5	3	3	2	rs148758925		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:51742917G>A	ENST00000262262.4	+	7	1090	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.E230K	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	357					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCTCCACCGAATACTCAGA	0.527													g|||	1	0.000199681	0	0	5008	,	,		19647	0		0.001	False		,,,				2504	0					uc002pwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(1069-1071)Gaa>Aaa		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	81	70	74		688,1069	-0.6	0	19	dbSNP_134	74	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense	CD33	NM_001082618.1,NM_001772.3	56,56	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	possibly-damaging,possibly-damaging	230/238,357/365	51742917	16,12990	2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51742917G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.1069G>A	19.37:g.51742917G>A	ENSP00000262262:p.Glu357Lys					CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_Non-coding_Transcript	p.E357K	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	6	1109	+		all_neural(266;0.0199)	357					B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.1069G>A	CCDS33084.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.11	1.540907	0.27563	2.27E-4	0.001744	ENSG00000105383	ENST00000262262;ENST00000421133	T;T	0.06528	3.29;3.29	2.13	-0.601	0.11638	.	.	.	.	.	T	0.07638	0.0192	M	0.82823	2.61	0.09310	N	1	B;D	0.53619	0.291;0.961	B;B	0.36989	0.022;0.238	T	0.27365	-1.0076	9	0.87932	D	0	.	2.5317	0.04704	0.2672:0.3002:0.4326:0.0	.	230;357	C9JEN7;P20138	.;CD33_HUMAN	K	357;230	ENSP00000262262:E357K;ENSP00000410126:E230K	ENSP00000262262:E357K	E	+	1	0	CD33	56434729	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-0.213000	0.09305	-0.083000	0.12618	0.313000	0.20887	GAA		0.527	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		A	51742917	G	A	51742917	3	1	178	1	0	0	0	0	1	0	0	0	3005	1059	37	2	1108	2	CD33	19	51742917	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	15518590	51742917	7386066	54	12638											
MBOAT7	79143	broad.mit.edu	37	chr19	54677935	54677935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcccatgcacatgtagtCataggcgcgcatcttcagga	11	8	11	11	2	3	0	2	0	1	0	3	2	3	1	1	2	2	3	1	2	3	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:54677935C>G	ENST00000245615.1	-	8	1702	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	TMC4_ENST00000301187.4_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.D335H|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.D335H|TMC4_ENST00000376591.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	408					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACATGTAGTCATAGGCGCGC	0.652																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.3																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(1222-1224)Gac>Cac		Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.							141	133	136					19																	54677935		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677935C>G	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1222G>C	19.37:g.54677935C>G	ENSP00000245615:p.Asp408His					TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Missense_Mutation_p.D92H|MBOAT7_uc010yem.2_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.3_Missense_Mutation_p.D408H|MBOAT7_uc002qds.3_Missense_Mutation_p.D335H|MBOAT7_uc010yen.2_Missense_Mutation_p.D335H	p.D408H	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			8	1488	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		408					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1222G>C	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.819104	0.90873	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.72615	-0.67;-0.67;-0.67	4.88	4.88	0.63580	.	0.194818	0.52532	D	0.000077	T	0.81616	0.4860	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.983	T	0.82244	-0.0553	10	0.51188	T	0.08	-33.0659	17.2362	0.86999	0.0:1.0:0.0:0.0	.	390;335;408	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	H	335;335;408	ENSP00000410503:D335H;ENSP00000344377:D335H;ENSP00000245615:D408H	ENSP00000245615:D408H	D	-	1	0	MBOAT7	59369747	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.860000	0.75473	2.441000	0.82636	0.550000	0.68814	GAC		0.652	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		G	54677935	C	G	54677935	3	3	178	1	0	0	0	0	1	0	0	0	9358	826	29	5	200	5	MBOAT7	19	54677935	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	2935018	54677935	4451048	55	12639											
SAMHD1	25939	broad.mit.edu	37	chr20	35547889	35547889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattccattagaattaataaGgtgctcaaacatcataactg	17	12	5	7	0	2	1	2	0	0	1	3	1	3	1	1	1	3	1	1	1	7	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr20:35547889G>A	ENST00000262878.4	-	7	929	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	SAMHD1_ENST00000373694.5_Missense_Mutation_p.L29F	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	244	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GAATTAATAAGGTGCTCAAAC	0.368																																						uc002xgh.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(730-732)Ctt>Ttt		Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.							90	85	87					20																	35547889		2203	4299	6502	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35547889G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.730C>T	20.37:g.35547889G>A	ENSP00000262878:p.Leu244Phe						p.L244F	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			6	930	-		Myeloproliferative disorder(115;0.00878)	244			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.730C>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914400	0.72983	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.96830	-2.96;-4.14	5.82	3.66	0.41972	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.80183	2.485	0.58432	D	0.999999	D	0.63880	0.993	D	0.70716	0.97	D	0.96141	0.9100	10	0.72032	D	0.01	-13.2663	6.2995	0.21105	0.1805:0.0:0.6782:0.1412	.	244	Q9Y3Z3	SAMH1_HUMAN	F	244;29	ENSP00000262878:L244F;ENSP00000362798:L29F	ENSP00000262878:L244F	L	-	1	0	SAMHD1	34981303	1.000000	0.71417	0.496000	0.27539	0.983000	0.72400	3.019000	0.49635	0.622000	0.30249	0.557000	0.71058	CTT		0.368	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		A	35547889	G	A	35547889	3	1	178	1	0	0	0	0	1	0	0	0	13828	1000	35	3	1190	3	SAMHD1	20	35547889	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		35547889	27477631	56	12640											
PRKX	5613	broad.mit.edu	37	chrX	3573336	3573336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgatctctgcagagtaGaagagccccgtggtgctgga	10	8	14	9	1	1	5	0	1	1	4	2	6	1	6	2	2	3	3	2	2	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:3573336G>C	ENST00000262848.5	-	3	807	c.453C>G	c.(451-453)ttC>ttG	p.F151L	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTGCAGAGTAGAAGAGCCCCG	0.587																																						uc010nde.3																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(451-453)ttC>ttG		Homo sapiens protein kinase, X-linked (PRKX), mRNA.							100	89	93					X																	3573336		2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573336G>C		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.453C>G	X.37:g.3573336G>C	ENSP00000262848:p.Phe151Leu						p.F151L	NM_005044	NP_005035	P51817	PRKX_HUMAN			2	834	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	151			Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.453C>G	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202976	0.38905	.	.	ENSG00000183943	ENST00000262848	T	0.64991	-0.13	3.7	-1.23	0.09465	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64820	-0.6317	10	0.87932	D	0	-23.8565	8.3092	0.32060	0.7833:0.0:0.2167:0.0	.	151	P51817	PRKX_HUMAN	L	151	ENSP00000262848:F151L	ENSP00000262848:F151L	F	-	3	2	PRKX	3583336	1.000000	0.71417	0.019000	0.16419	0.246000	0.25737	1.205000	0.32308	-0.238000	0.09724	0.529000	0.55759	TTC		0.587	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		C	3573336	G	C	3573336	3	2	178	1	0	0	0	0	1	0	0	0	12527	933	33	5	647	5	PRKX	23	3573336	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		3573336	151697224	57	12641											
MSL3	10943	broad.mit.edu	37	chrX	11790274	11790274	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattcgtgctttttccaGgtcctctcctggaagcttgt	5	17	8	11	1	2	0	1	0	1	0	6	1	4	1	3	2	2	2	3	2	2	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:11790274G>A	ENST00000312196.4	+	11	1386		c.e11-1		MSL3_ENST00000398527.2_Splice_Site|MSL3_ENST00000380693.3_Splice_Site|MSL3_ENST00000361672.2_Splice_Site	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCTTTTTCCAGGTCCTCTCCT	0.443																																						uc004cuw.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.e11-1		Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.							120	112	115					X																	11790274		2203	4300	6503	SO:0001630	splice_region_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790274G>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1282-1G>A	X.37:g.11790274G>A						MSL3_uc011mig.2_Splice_Site_p.V279_splice|MSL3_uc011mih.2_Splice_Site_p.V416_splice|MSL3_uc004cuy.3_Splice_Site_p.V262_splice	p.V428_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN			11	1387	+			428					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Splice_Site	SNP	ENST00000312196.4	37	c.1282_splice	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762957	0.49574	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0908	0.59166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSL3	11700195	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	8.588000	0.90813	2.062000	0.61559	0.600000	0.82982	.		0.443	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	Intron	A	11790274	G	A	11790274	5	1	178	1	0	0	0	0	0	0	1	0	9879	1014	35	3	1403	3	MSL3	23	11790274	Splice_Site	SNP	G	TCGA-26-5136-01B-01D-1486-08	8216938	11790274	143480286	58	12642											
XK	7504	broad.mit.edu	37	chrX	37545375	37545375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcgctcgtgcagctcaCgcttctcttcgtacaccgcg	4	11	10	16	7	2	0	1	0	1	0	5	0	2	0	1	0	4	5	1	0	1	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:37545375C>T	ENST00000378616.3	+	1	364	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	54					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTGCAGCTCACGCTTCTCTTC	0.662																																						uc004ddq.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(160-162)aCg>aTg		Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.							39	29	33					X																	37545375		2202	4299	6501	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37545375C>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.161C>T	X.37:g.37545375C>T	ENSP00000367879:p.Thr54Met						p.T54M	NM_021083	NP_066569	P51811	XK_HUMAN			0	243	+		all_lung(315;0.175)	54					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.161C>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394393	0.83011	.	.	ENSG00000047597	ENST00000378616	T	0.64991	-0.13	5.29	5.29	0.74685	.	0.098289	0.64402	D	0.000002	T	0.76730	0.4028	M	0.75264	2.295	0.48511	D	0.999666	D	0.89917	1.0	D	0.72338	0.977	T	0.77202	-0.2674	10	0.42905	T	0.14	.	12.6748	0.56887	0.0:0.6727:0.3273:0.0	.	54	P51811	XK_HUMAN	M	54	ENSP00000367879:T54M	ENSP00000367879:T54M	T	+	2	0	XK	37430294	0.995000	0.38212	1.000000	0.80357	0.974000	0.67602	1.662000	0.37418	2.184000	0.69523	0.506000	0.49869	ACG		0.662	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		T	37545375	C	T	37545375	3	4	178	1	0	0	0	0	1	0	0	0	17428	536	19	1	163	1	XK	23	37545375	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	25755101	37545375	117725185	59	12643											
UBA1	7317	broad.mit.edu	37	chrX	47069360	47069360	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcgaacactgcggctGgcaggcactcagcccttgga	8	6	15	12	2	1	0	1	0	0	0	1	3	1	2	1	5	4	3	1	5	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:47069360G>C	ENST00000335972.6	+	18	2220	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	UBA1_ENST00000377351.4_Silent_p.L679L|UBA1_ENST00000377269.3_Silent_p.L127L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	679					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTGCGGCTGGCAGGCACTC	0.607																																						uc004dhj.4																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2035-2037)ctG>ctC		Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.							74	70	71					X																	47069360		2202	4300	6502	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47069360G>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2037G>C	X.37:g.47069360G>C						UBA1_uc004dhk.4_Silent_p.L679L|UBA1_uc004dhm.3_Silent_p.L127L	p.L679L	NM_153280	NP_695012	P22314	UBA1_HUMAN			17	2188	+			679					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.2037G>C	CCDS14275.1																																																																																				0.607	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		C	47069360	G	C	47069360	2	2	178	1	0	0	0	0	0	0	0	1	16824	1335	47	5		5	UBA1	23	47069360	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	9523985	47069360	108201200	60	12644											
OTUD5	55593	broad.mit.edu	37	chrX	48814296	48814296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagccgcctcatactcGtcctcactgttgtagcctgc	5	11	9	16	2	2	0	2	0	0	0	4	0	3	0	4	0	5	4	4	0	2	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:48814296G>A	ENST00000156084.4	-	1	597	c.537C>T	c.(535-537)gaC>gaT	p.D179D	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Intron|OTUD5_ENST00000376488.3_Silent_p.D179D|OTUD5_ENST00000396743.3_Silent_p.D179D|RNU6-722P_ENST00000411377.1_RNA	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	179					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCTCATACTCGTCCTCACTGT	0.677													G|||	1	0.000264901	0	0	3775	,	,		9495	0		0.001	False		,,,				2504	0					uc004dlu.3																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(535-537)gaC>gaT		Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.							37	21	27					X																	48814296		2200	4298	6498	SO:0001819	synonymous_variant	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48814296G>A		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.537C>T	X.37:g.48814296G>A						OTUD5_uc004dlt.4_Silent_p.D179D|OTUD5_uc004dlv.3_Silent_p.D179D|OTUD5_uc011mmp.2_Intron	p.D179D	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			0	598	-			179					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Silent	SNP	ENST00000156084.4	37	c.537C>T	CCDS14313.1																																																																																				0.677	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		A	48814296	G	A	48814296	2	1	178	1	0	0	0	0	0	0	0	1	11315	1136	40	1		1	OTUD5	23	48814296	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	1744936	48814296	106456264	61	12645											
TEX11	56159	broad.mit.edu	37	chrX	69871358	69871358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataaaattgagtgaaaacGttcctagggtcatgtcgttc	13	13	9	6	2	1	2	1	2	0	0	4	2	2	2	1	1	1	2	1	1	6	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:69871358G>A	ENST00000395889.2	-	18	1625	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	TEX11_ENST00000344304.3_Silent_p.N490N|TEX11_ENST00000374333.2_Silent_p.N475N|TEX11_ENST00000374320.2_Silent_p.N165N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	490					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAGTGAAAACGTTCCTAGGGT	0.358																																						uc004dyl.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1468-1470)aaC>aaT		Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.							49	46	47					X																	69871358		2203	4300	6503	SO:0001819	synonymous_variant	56159						protein binding	g.chrX:69871358G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1470C>T	X.37:g.69871358G>A						TEX11_uc004dyk.3_Silent_p.N165N|TEX11_uc004dym.3_Silent_p.N475N	p.N490N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			17	1632	-	Renal(35;0.156)		490					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	c.1470C>T	CCDS35323.1																																																																																				0.358	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69871358	G	A	69871358	2	1	178	1	0	0	0	0	0	0	0	1	15771	1136	40	1		1	TEX11	23	69871358	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	21057062	69871358	85399202	62	12646											
CXorf57	55086	broad.mit.edu	37	chrX	105855567	105855567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgagccacgcgacaCggtgcccaagcctccccttt	9	6	11	15	3	0	2	0	1	0	1	1	4	1	3	5	2	3	0	5	2	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:105855567C>T	ENST00000372548.4	+	1	366	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CXorf57_ENST00000372544.2_Missense_Mutation_p.T86M	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	86							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGCGACACGGTGCCCAAG	0.557																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(256-258)aCg>aTg		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							99	88	92					X																	105855567		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105855567C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.257C>T	X.37:g.105855567C>T	ENSP00000361628:p.Thr86Met					CXorf57_uc004emj.4_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	p.T86M	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			0	408	+			86					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.257C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	5.082	0.200706	0.09652	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80480	-1.38;-1.38	4.0	-5.27	0.02763	Nucleic acid-binding, OB-fold-like (1);	1.950530	0.02539	N	0.094457	T	0.67571	0.2907	L	0.43152	1.355	0.09310	N	1	B;B;B	0.25719	0.132;0.079;0.079	B;B;B	0.14578	0.011;0.011;0.011	T	0.47195	-0.9136	10	0.54805	T	0.06	5.7717	0.0829	0.00033	0.2557:0.2252:0.2321:0.287	.	86;86;86	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	M	86	ENSP00000361623:T86M;ENSP00000361628:T86M	ENSP00000361623:T86M	T	+	2	0	CXorf57	105742223	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-1.312000	0.02720	-1.776000	0.01285	-0.192000	0.12808	ACG		0.557	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		T	105855567	C	T	105855567	3	4	178	1	0	0	0	0	1	0	0	0	4113	536	19	1	259	1	CXorf57	23	105855567	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	35984209	105855567	49414993	63	12647											
TMEM164	84187	broad.mit.edu	37	chrX	109247264	109247264	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcggccagaggaaggcaagGagagcctgagcaagaatctg	14	3	16	8	1	1	4	0	1	1	3	1	6	1	5	2	4	3	2	2	4	4	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:109247264G>T	ENST00000372073.1	+	2	598	c.262G>T	c.(262-264)Gag>Tag	p.E88*	TMEM164_ENST00000372068.2_Nonsense_Mutation_p.E88*|TMEM164_ENST00000288381.4_Nonsense_Mutation_p.E88*|TMEM164_ENST00000372072.3_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	88						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGAAGGCAAGGAGAGCCTGAG	0.617																																						uc004eom.3																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(262-264)Gag>Tag		Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.							73	55	61					X																	109247264		2203	4300	6503	SO:0001587	stop_gained	84187					integral to membrane		g.chrX:109247264G>T	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.262G>T	X.37:g.109247264G>T	ENSP00000361143:p.Glu88*					TMEM164_uc004eon.2_Intron|TMEM164_uc010npq.3_Nonsense_Mutation_p.E88*	p.E88*	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN			1	601	+			88					B3KSQ8|F5H2P2	Nonsense_Mutation	SNP	ENST00000372073.1	37	c.262G>T	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	G	38	7.252894	0.98164	.	.	ENSG00000157600	ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	.	.	.	4.33	4.33	0.51752	.	0.114225	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.0001	16.1811	0.81903	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000288381:E88X	E	+	1	0	TMEM164	109133920	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.327000	0.96396	1.984000	0.57885	0.513000	0.50165	GAG		0.617	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		T	109247264	G	T	109247264	4	4	178	1	0	0	0	0	0	1	0	0	16076	1175	41	5	264	5	TMEM164	23	109247264	Nonsense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	3391697	109247264	46023296	64	12648											
TREX2	11219	broad.mit.edu	37	chrX	152710600	152710600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcagcgtccgcaccaCggcgccatcaaagccagcct	8	4	11	18	4	1	0	1	0	0	0	2	0	2	0	6	2	4	2	6	2	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152710600C>T	ENST00000334497.2	-	11	1559	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	TREX2_ENST00000402951.1_Missense_Mutation_p.V140M|TREX2_ENST00000370231.2_Missense_Mutation_p.V97M|TREX2_ENST00000370232.1_Missense_Mutation_p.V140M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000338525.2_Missense_Mutation_p.V97M|TREX2_ENST00000330912.2_Missense_Mutation_p.V97M|TREX2_ENST00000414588.1_Missense_Mutation_p.V139M|TREX2_ENST00000393862.2_Missense_Mutation_p.V97M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	140					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)	p.V140M(1)|p.V97M(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGCACCACGGCGCCATCA	0.657								Editing and processing nucleases																														uc022chv.1																			2	Substitution - Missense(2)	p.V97M(2)|p.V140M(1)	endometrium(2)	endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(289-291)Gtg>Atg	Editing and processing nucleases	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.							13	12	12					X																	152710600		2194	4283	6477	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710600C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.418G>A	X.37:g.152710600C>T	ENSP00000334993:p.Val140Met					TREX2_uc010nud.2_Missense_Mutation_p.V97M|TREX2_uc011myp.2_Missense_Mutation_p.V97M|TREX2_uc010nue.2_Missense_Mutation_p.V139M|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	p.V97M	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN			0	289	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		140					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.289G>A		.	.	.	.	.	.	.	.	.	.	C	13.24	2.179148	0.38511	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.16	5.16	0.70880	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.168275	0.27262	U	0.020175	T	0.55609	0.1931	M	0.83012	2.62	0.29216	N	0.874284	D;D	0.89917	1.0;1.0	D;D	0.70935	0.957;0.971	T	0.59048	-0.7527	10	0.62326	D	0.03	-22.7808	10.9787	0.47482	0.0:0.8154:0.1846:0.0	.	139;140	Q06S70;Q9BQ50	.;TREX2_HUMAN	M	97;97;97;140;140;140;139;97	ENSP00000377442:V97M;ENSP00000333441:V97M;ENSP00000345218:V97M;ENSP00000334993:V140M;ENSP00000359252:V140M;ENSP00000386078:V140M;ENSP00000401692:V139M;ENSP00000359251:V97M	ENSP00000333441:V97M	V	-	1	0	TREX2	152363794	0.974000	0.33945	0.588000	0.28705	0.032000	0.12392	2.344000	0.44010	2.136000	0.66102	0.468000	0.43344	GTG		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		T	152710600	C	T	152710600	3	4	178	1	0	0	0	0	1	0	0	0	16474	536	19	1	424	1	TREX2	23	152710600	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	43463336	152710600	2559960	65	12649											
ATP2B3	492	broad.mit.edu	37	chrX	152830482	152830482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggccgaaggcgaggAagagatcgaccatgccgagc	11	3	17	10	4	0	1	0	0	0	1	1	8	0	3	3	4	3	1	3	4	2	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152830482A>T	ENST00000349466.2	+	20	3589	c.3263A>T	c.(3262-3264)gAa>gTa	p.E1088V	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1074V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1074V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1088V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1088V|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E1074V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1088					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCGAGGAAGAGATCGAC	0.662																																						uc004fht.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3262-3264)gAa>gTa		Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.							28	26	26					X																	152830482		2199	4293	6492	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152830482A>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3263A>T	X.37:g.152830482A>T	ENSP00000343886:p.Glu1088Val					ATP2B3_uc004fhs.1_Missense_Mutation_p.E1088V|ATP2B3_uc010nuf.1_Missense_Mutation_p.E111V|ATP2B3_uc004fhu.1_Missense_Mutation_p.E11V	p.E1088V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			18	3389	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1088					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3263A>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077620	0.76528	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.94376	-3.4;-3.41;-3.4;-3.41;-3.41;-3.4	4.63	4.63	0.57726	.	0.133036	0.52532	D	0.000075	D	0.95714	0.8606	M	0.65498	2.005	0.58432	D	0.999996	D;B;P;P	0.89917	1.0;0.196;0.927;0.758	D;B;P;P	0.83275	0.996;0.249;0.732;0.723	D	0.95875	0.8894	10	0.72032	D	0.01	-9.5598	12.447	0.55657	1.0:0.0:0.0:0.0	.	1074;1074;1088;1088	Q16720-3;Q16720-4;Q16720;Q16720-2	.;.;AT2B3_HUMAN;.	V	1074;1088;1074;1088;1088;1074	ENSP00000359205:E1074V;ENSP00000343886:E1088V;ENSP00000377425:E1074V;ENSP00000352062:E1088V;ENSP00000263519:E1088V;ENSP00000359200:E1074V	ENSP00000263519:E1088V	E	+	2	0	ATP2B3	152483676	1.000000	0.71417	0.989000	0.46669	0.647000	0.38526	7.464000	0.80887	1.643000	0.50594	0.475000	0.43553	GAA		0.662	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152830482	A	T	152830482	3	4	178	1	0	0	0	0	1	0	0	0	1141	246	9	5	3337	5	ATP2B3	23	152830482	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08	119882	152830482	2440078	66	12650											
VPS72	6944	broad.mit.edu	37	chr1	151149180	151149180	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagggaggggctcaggAggtggcgggccggggcccag	6	2	23	10	2	1	0	1	0	0	0	1	3	1	2	3	9	1	1	3	9	0	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:151149180A>T	ENST00000354473.4	-	6	1104	c.1068T>A	c.(1066-1068)ccT>ccA	p.P356P	TMOD4_ENST00000416280.2_5'Flank|VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000601585.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	345					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGCTCAGGAGGTGGCGGGC	0.572																																					Pancreas(109;1131 2287 3209 24201)	uc001exe.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1033-1035)ccT>ccA		Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.							72	83	79					1																	151149180		2203	4299	6502	SO:0001819	synonymous_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151149180A>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.1068T>A	1.37:g.151149180A>T						TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	p.P345P	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	1078	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		345			Poly-Pro.|Pro-rich.		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.1035T>A	CCDS59201.1																																																																																				0.572	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		T	151149180	A	T	151149180	2	4	179	1	0	0	0	0	0	0	0	1	17214	291	11	5		5	VPS72	1	151149180	Silent	SNP	A	TCGA-26-5139-01A-01D-1486-08		151149180	98101441	1	12651											
YY1AP1	55249	broad.mit.edu	37	chr1	155646478	155646478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcatcttcagctgttcaAatagttccttcgctatctga	8	17	5	11	1	6	1	3	1	3	0	8	1	7	1	1	0	1	4	1	0	3	7			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:155646478A>G	ENST00000295566.4	-	5	406	c.383T>C	c.(382-384)tTt>tCt	p.F128S	YY1AP1_ENST00000355499.4_Missense_Mutation_p.F62S|YY1AP1_ENST00000405763.3_Missense_Mutation_p.F200S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F51S|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368340.5_Missense_Mutation_p.F200S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F62S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F51S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F51S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F62S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F200S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F51S|YY1AP1_ENST00000438245.2_Missense_Mutation_p.F62S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F62S|YY1AP1_ENST00000535662.1_5'Flank	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	128					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAGCTGTTCAAATAGTTCCTT	0.438																																						uc010pgi.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(598-600)tTt>tCt		Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.							207	170	182					1																	155646478		2203	4300	6503	SO:0001583	missense	55249				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155646478A>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.383T>C	1.37:g.155646478A>G	ENSP00000295566:p.Phe128Ser					GON4L_uc021paz.1_Missense_Mutation_p.F62S|GON4L_uc010pgg.2_5'UTR|GON4L_uc010pgh.2_Missense_Mutation_p.F51S|GON4L_uc009wqt.3_Missense_Mutation_p.F51S|GON4L_uc001flh.3_Missense_Mutation_p.F200S|GON4L_uc001fll.3_Missense_Mutation_p.F62S|GON4L_uc001flk.3_Missense_Mutation_p.F51S|GON4L_uc001flm.3_Missense_Mutation_p.F51S|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_Missense_Mutation_p.F51S|GON4L_uc001flj.3_Missense_Mutation_p.F62S|GON4L_uc001fli.3_Missense_Mutation_p.F62S|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Missense_Mutation_p.F128S|GON4L_uc010pgj.2_Missense_Mutation_p.F128S|GON4L_uc001flp.3_Missense_Mutation_p.F62S|GON4L_uc009wqx.3_Missense_Mutation_p.F200S|GON4L_uc010pgk.2_Missense_Mutation_p.F200S	p.F200S	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN			3	791	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		651					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.599T>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.385654	0.25031	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.22743	1.98;1.99;1.98;1.99;1.98;1.95;1.97;1.99;1.98;1.99;1.94	3.78	3.78	0.43462	.	0.236456	0.35805	N	0.002964	T	0.08714	0.0216	N	0.14661	0.345	0.09310	N	1	P;B;B;P;B;B;P	0.43885	0.755;0.429;0.128;0.82;0.128;0.099;0.604	B;B;B;P;B;B;B	0.47430	0.332;0.247;0.044;0.547;0.044;0.074;0.253	T	0.06232	-1.0838	10	0.87932	D	0	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	62;128;200;200;128;62;200	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	S	51;62;51;62;51;200;128;62;51;62;200;200;62;51;62	ENSP00000352134:F51S;ENSP00000347686:F62S;ENSP00000311138:F51S;ENSP00000316079:F62S;ENSP00000355298:F51S;ENSP00000357324:F200S;ENSP00000295566:F128S;ENSP00000357314:F62S;ENSP00000385791:F51S;ENSP00000385390:F62S;ENSP00000357323:F200S	ENSP00000295566:F128S	F	-	2	0	YY1AP1	153913102	0.995000	0.38212	0.288000	0.24862	0.118000	0.20060	5.963000	0.70372	1.573000	0.49748	0.374000	0.22700	TTT		0.438	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		G	155646478	A	G	155646478	3	3	179	1	0	0	0	0	1	0	0	0	17505	14	1	4	2095	4	YY1AP1	1	155646478	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	4497298	155646478	93604143	2	12652											
PEAR1	375033	broad.mit.edu	37	chr1	156875138	156875138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtataccggaccgtgtacCgtcaggtggtgaagacggac	9	9	14	9	4	1	2	1	1	0	1	1	4	1	4	3	4	2	2	3	4	4	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:156875138C>T	ENST00000338302.3	+	5	454	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R77C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	77	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R77S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACCGTGTACCGTCAGGTGGT	0.657																																						uc001fqj.1																			1	Substitution - Missense(1)	p.R77S(2)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(229-231)Cgt>Tgt		Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.							65	58	61					1																	156875138		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156875138C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.229C>T	1.37:g.156875138C>T	ENSP00000344465:p.Arg77Cys					PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	p.R77C	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			3	345	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		77			EMI.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.229C>T	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641052	0.67244	.	.	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	D;T;D	0.90844	-2.74;0.51;-2.74	3.92	3.92	0.45320	EMI domain (1);	0.180201	0.27035	N	0.021250	D	0.89818	0.6825	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.63488	0.915	D	0.91395	0.5138	10	0.87932	D	0	.	13.4913	0.61397	0.0:1.0:0.0:0.0	.	77	Q5VY43	PEAR1_HUMAN	C	77	ENSP00000344465:R77C;ENSP00000389742:R77C;ENSP00000292357:R77C	ENSP00000292357:R77C	R	+	1	0	PEAR1	155141762	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	1.860000	0.39428	2.015000	0.59207	0.655000	0.94253	CGT		0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156875138	C	T	156875138	3	4	179	1	0	0	0	0	1	0	0	0	11712	652	23	2	239	2	PEAR1	1	156875138	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	1228660	156875138	92375483	3	12653											
CD5L	922	broad.mit.edu	37	chr1	157804444	157804444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcacacggtataccactgGttctggtgcttcacttccac	7	12	9	13	1	2	0	1	0	1	0	3	0	3	0	2	4	2	4	2	4	2	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:157804444G>A	ENST00000368174.4	-	4	567	c.471C>T	c.(469-471)aaC>aaT	p.N157N	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	157	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TATACCACTGGTTCTGGTGCT	0.622																																						uc001frk.4																			0		p.Q156H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(469-471)aaC>aaT		Homo sapiens CD5 molecule-like (CD5L), mRNA.							103	101	102					1																	157804444		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804444G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.471C>T	1.37:g.157804444G>A							p.N157N	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	614	-	all_hematologic(112;0.0378)		157			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.471C>T	CCDS1171.1																																																																																				0.622	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		A	157804444	G	A	157804444	2	1	179	1	0	0	0	0	0	0	0	1	3027	1252	44	3		3	CD5L	1	157804444	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	929306	157804444	91446177	4	12654											
MYT1L	23040	broad.mit.edu	37	chr2	1926965	1926965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtaattgtcatattcGtcattattgttatcatcctt	9	20	4	8	2	4	0	4	0	0	0	7	0	5	0	1	0	0	2	1	0	4	8	rs370624330		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:1926965G>A	ENST00000399161.2	-	10	1323	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MYT1L_ENST00000428368.2_Silent_p.D192D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	192					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCATATTCGTCATTATTGT	0.388																																						uc002qxe.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(574-576)gaC>gaT		Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.							85	80	82					2																	1926965		1927	4137	6064	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926965G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.576C>T	2.37:g.1926965G>A						MYT1L_uc002qxd.3_Silent_p.D192D|MYT1L_uc010ewl.2_Non-coding_Transcript	p.D192D	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	1403	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	192					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.576C>T																																																																																					0.388	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1926965	G	A	1926965	2	1	179	1	0	0	0	0	0	0	0	1	10107	1136	40	1		1	MYT1L	2	1926965	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08		1926965	241272408	5	12655											
XDH	7498	broad.mit.edu	37	chr2	31620554	31620554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcaaaggtccggaagcCctggaggatgggtctgtagc	8	7	16	10	1	1	0	0	0	1	0	2	3	2	3	3	6	2	2	3	6	3	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:31620554C>A	ENST00000379416.3	-	6	523	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	159					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTCCGGAAGCCCTGGAGGATG	0.552																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			0		p.Q158*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(475-477)Ggc>Tgc		Homo sapiens xanthine dehydrogenase (XDH), mRNA.	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						118	125	123					2																	31620554		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31620554C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.475G>T	2.37:g.31620554C>A	ENSP00000368727:p.Gly159Cys						p.G159C	NM_000379	NP_000370	P47989	XDH_HUMAN			5	554	-	Acute lymphoblastic leukemia(172;0.155)		159					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.475G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762375	0.49468	.	.	ENSG00000158125	ENST00000379416	T	0.63417	-0.04	6.07	4.29	0.51040	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83490	0.0069	10	0.87932	D	0	.	12.0704	0.53613	0.0:0.8592:0.0:0.1408	.	159	P47989	XDH_HUMAN	C	159	ENSP00000368727:G159C	ENSP00000368727:G159C	G	-	1	0	XDH	31474058	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	7.175000	0.77632	0.912000	0.36772	-0.136000	0.14681	GGC		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31620554	C	A	31620554	3	1	179	1	0	0	0	0	1	0	0	0	17423	623	22	5	3650	5	XDH	2	31620554	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	29693589	31620554	211578819	6	12656											
CHL1	10752	broad.mit.edu	37	chr3	440026	440026	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactaagaattggggcgatAatgatagcatttttcaagat	14	13	10	4	1	1	4	1	2	0	2	1	5	1	4	0	2	1	1	0	2	5	6			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:440026A>T	ENST00000256509.2	+	25	3853	c.3211A>T	c.(3211-3213)Aat>Tat	p.N1071Y	CHL1_ENST00000397491.2_Missense_Mutation_p.N1055Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGGGCGATAATGATAGCAT	0.383																																						uc003bot.3																			0		p.D1070N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3211-3213)Aat>Tat		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							88	86	87					3																	440026		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:440026A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3211A>T	3.37:g.440026A>T	ENSP00000256509:p.Asn1071Tyr					CHL1_uc003bou.3_Missense_Mutation_p.N1055Y|CHL1_uc003bow.2_Missense_Mutation_p.N1055Y|CHL1_uc011asi.2_Intron	p.N1071Y	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3853	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1055					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3211A>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272095	0.59649	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.61040	0.14;0.16	5.72	5.72	0.89469	.	0.102592	0.64402	D	0.000005	T	0.66117	0.2757	L	0.29908	0.895	0.54753	D	0.999988	P;D	0.89917	0.565;1.0	P;D	0.83275	0.531;0.996	T	0.69580	-0.5107	10	0.72032	D	0.01	.	14.557	0.68106	1.0:0.0:0.0:0.0	.	1055;1071	O00533;O00533-2	CHL1_HUMAN;.	Y	1071;1055	ENSP00000256509:N1071Y;ENSP00000380628:N1055Y	ENSP00000256509:N1071Y	N	+	1	0	CHL1	415026	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.828000	0.86729	2.189000	0.69895	0.528000	0.53228	AAT		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	440026	A	T	440026	3	4	179	1	0	0	0	0	1	0	0	0	3349	362	13	5	3301	5	CHL1	3	440026	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08		440026	197582404	7	12657											
FGD5	152273	broad.mit.edu	37	chr3	14861539	14861539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcacaggatgagtccGccgaggagagctgccagatt	11	6	13	11	2	0	3	0	1	0	2	1	6	1	4	4	2	3	2	4	2	0	1	rs546389054		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:14861539G>A	ENST00000285046.5	+	1	1071	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	FGD5_ENST00000543601.1_Missense_Mutation_p.A80T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	321	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGATGAGTCCGCCGAGGAGAG	0.552																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(961-963)Gcc>Acc		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							66	72	70					3																	14861539		2002	4182	6184	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861539G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.961G>A	3.37:g.14861539G>A	ENSP00000285046:p.Ala321Thr					FGD5_uc011avk.2_Missense_Mutation_p.A321T	p.A321T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1071	+			321			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.961G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646552	0.29246	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77750	-1.12;-0.91	5.34	-1.16	0.09678	.	0.749106	0.12161	N	0.493987	T	0.57242	0.2040	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.35724	-0.9777	10	0.16420	T	0.52	-4.4292	0.8015	0.01076	0.2781:0.1919:0.3321:0.1979	.	80;321	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	321;80	ENSP00000285046:A321T;ENSP00000445949:A80T	ENSP00000285046:A321T	A	+	1	0	FGD5	14836543	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.231000	0.17872	-0.966000	0.03587	-0.797000	0.03246	GCC		0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14861539	G	A	14861539	3	1	179	1	0	0	0	0	1	0	0	0	5836	1087	38	1	963	1	FGD5	3	14861539	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	14421513	14861539	183160891	8	12658											
VILL	50853	broad.mit.edu	37	chr3	38035909	38035909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcaccgcgaggcgcAgggccacgagtccgactgct	6	5	15	15	6	0	0	0	0	0	0	1	3	1	0	3	2	3	4	3	2	0	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:38035909A>G	ENST00000283713.6	+	4	559	c.293A>G	c.(292-294)cAg>cGg	p.Q98R	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.Q98R			O15195	VILL_HUMAN	villin-like	98					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CGCGAGGCGCAGGGCCACGAG	0.721																																						uc003chj.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(292-294)cAg>cGg		Homo sapiens villin-like (VILL), mRNA.							18	24	22					3																	38035909		2183	4283	6466	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38035909A>G		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.293A>G	3.37:g.38035909A>G	ENSP00000283713:p.Gln98Arg					VILL_uc003chk.1_Missense_Mutation_p.Q98R|VILL_uc003chl.3_Missense_Mutation_p.Q98R|VILL_uc010hgu.3_5'UTR	p.Q98R	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	3	579	+			98					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.293A>G	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394178	0.83011	.	.	ENSG00000136059	ENST00000283713;ENST00000416303;ENST00000492491;ENST00000383759;ENST00000356246	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	3.89	3.89	0.44902	Gelsolin domain (1);	0.118865	0.64402	D	0.000015	T	0.58779	0.2146	M	0.94101	3.495	0.48830	D	0.999712	D	0.76494	0.999	D	0.81914	0.995	T	0.69884	-0.5024	10	0.72032	D	0.01	-20.1753	12.1281	0.53928	1.0:0.0:0.0:0.0	.	98	O15195	VILL_HUMAN	R	98	ENSP00000283713:Q98R;ENSP00000393661:Q98R;ENSP00000427355:Q98R;ENSP00000373266:Q98R	ENSP00000283713:Q98R	Q	+	2	0	VILL	38010913	1.000000	0.71417	0.983000	0.44433	0.707000	0.40811	8.909000	0.92647	1.769000	0.52152	0.460000	0.39030	CAG		0.721	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		G	38035909	A	G	38035909	3	3	179	1	0	0	0	0	1	0	0	0	17162	188	7	4	303	4	VILL	3	38035909	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	23174370	38035909	159986521	9	12659											
NPRL2	10641	broad.mit.edu	37	chr3	50385755	50385755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccaccactaccttgcttGgtcacgtaggatagacatgc	11	9	8	13	1	1	1	1	0	0	1	1	2	1	2	3	2	4	2	3	2	4	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:50385755G>A	ENST00000232501.3	-	8	1245	c.807C>T	c.(805-807)acC>acT	p.T269T	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|ZMYND10_ENST00000360165.3_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|NPRL2_ENST00000493465.1_Intron|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	269					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TACCTTGCTTGGTCACGTAGG	0.577																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(805-807)acC>acT		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.							76	68	71					3																	50385755		2203	4300	6503	SO:0001819	synonymous_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385755G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.807C>T	3.37:g.50385755G>A						ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.T269T	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			7	1210	-			269					A8K831|Q6FGS2|Q9Y249|Q9Y497	Silent	SNP	ENST00000232501.3	37	c.807C>T	CCDS2826.1																																																																																				0.577	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		A	50385755	G	A	50385755	2	1	179	1	0	0	0	0	0	0	0	1	10597	1335	47	3		3	NPRL2	3	50385755	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	12349846	50385755	147636675	10	12660											
STXBP5L	9515	broad.mit.edu	37	chr3	120833881	120833881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattctttctggatatgttAtcatgtggaacaaggcaatt	11	16	8	6	0	4	0	2	0	2	0	4	2	4	2	0	3	1	2	0	3	5	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:120833881A>G	ENST00000273666.6	+	6	851	c.580A>G	c.(580-582)Atc>Gtc	p.I194V	STXBP5L_ENST00000472879.1_Missense_Mutation_p.I194V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I194V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I194V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I194V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	194					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGATATGTTATCATGTGGAA	0.318																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(580-582)Atc>Gtc		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							100	93	96					3																	120833881		1826	4069	5895	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120833881A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.580A>G	3.37:g.120833881A>G	ENSP00000273666:p.Ile194Val					STXBP5L_uc011bji.2_Missense_Mutation_p.I194V	p.I194V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	5	720	+			194					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.580A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800816	0.50315	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.53206	0.63;1.52;0.63;0.63;1.31;1.52	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.77103	2.36	0.58432	D	0.999999	B;P	0.48640	0.005;0.913	B;P	0.61592	0.007;0.891	T	0.63721	-0.6573	10	0.33141	T	0.24	-21.4244	10.1198	0.42614	0.9254:0.0:0.0746:0.0	.	194;194	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	194	ENSP00000273666:I194V;ENSP00000420019:I194V;ENSP00000419627:I194V;ENSP00000420287:I194V;ENSP00000420666:I194V;ENSP00000420167:I194V	ENSP00000273666:I194V	I	+	1	0	STXBP5L	122316571	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.574000	0.82434	2.116000	0.64780	0.402000	0.26972	ATC		0.318	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			G	120833881	A	G	120833881	3	3	179	1	0	0	0	0	1	0	0	0	15356	449	16	4	598	4	STXBP5L	3	120833881	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	70448126	120833881	77188549	11	12661											
SI	6476	broad.mit.edu	37	chr3	164730787	164730787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaacagcttcatcttccGttagagttttatctattgtt	9	19	5	8	1	3	1	1	0	2	1	4	1	4	1	1	0	2	4	1	0	4	9	rs192640245		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:164730787G>A	ENST00000264382.3	-	34	4105	c.4043C>T	c.(4042-4044)aCg>aTg	p.T1348M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1348	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCATCTTCCGTTAGAGTTTT	0.323										HNSCC(35;0.089)			G|||	1	0.000199681	0	0	5008	,	,		15219	0.001		0	False		,,,				2504	0					uc003fei.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4042-4044)aCg>aTg		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)	G	MET/THR	0,4406		0,0,2203	133	130	131		4043	3.5	0.8	3		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	SI	NM_001041.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1348/1828	164730787	1,13005	2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164730787G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4043C>T	3.37:g.164730787G>A	ENSP00000264382:p.Thr1348Met	HNSCC(35;0.089)					p.T1348M	NM_001041	NP_001032	P14410	SUIS_HUMAN			33	4106	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1348			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4043C>T	CCDS3196.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.76	2.033840	0.35893	0.0	1.16E-4	ENSG00000090402	ENST00000264382	D	0.88975	-2.45	4.35	3.48	0.39840	Glycoside hydrolase, superfamily (1);	0.278355	0.36234	N	0.002713	D	0.91284	0.7252	L	0.57536	1.79	0.09310	N	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.83237	-0.0060	10	0.62326	D	0.03	.	8.1342	0.31046	0.1896:0.0:0.8104:0.0	.	1348	P14410	SUIS_HUMAN	M	1348	ENSP00000264382:T1348M	ENSP00000264382:T1348M	T	-	2	0	SI	166213481	0.357000	0.24938	0.764000	0.31436	0.689000	0.40095	-0.370000	0.07523	1.015000	0.39444	0.585000	0.79938	ACG		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164730787	G	A	164730787	3	1	179	1	0	0	0	0	1	0	0	0	14297	1145	40	1	1500	1	SI	3	164730787	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	43896906	164730787	33291643	12	12662											
DGKQ	1609	broad.mit.edu	37	chr4	956666	956666	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgccatcgccaccacaCaccagcacccggaagcaggg	12	2	10	17	2	0	0	0	0	0	0	1	1	0	1	5	2	3	2	5	2	1	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:956666C>A	ENST00000273814.3	-	17	2002	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	643	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCACCACACACCAGCACCC	0.682																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1927-1929)gtG>gtT		Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.							42	33	36					4																	956666		2178	4292	6470	SO:0001819	synonymous_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956666C>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1929G>T	4.37:g.956666C>A						DGKQ_uc010ibn.3_Silent_p.V630V	p.V643V	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		16	2003	-			643			DAGKc.		Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.1929G>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093516	0.20471	.	.	ENSG00000145214	ENST00000509465	.	.	.	4.85	-0.0284	0.13922	.	.	.	.	.	T	0.41419	0.1158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	.	1.3677	0.02205	0.1391:0.3942:0.1358:0.3309	.	.	.	.	F	577	.	.	C	-	2	0	DGKQ	946666	0.590000	0.26815	0.976000	0.42696	0.783000	0.44284	-0.132000	0.10467	-0.316000	0.08690	-0.140000	0.14226	TGT		0.682	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			A	956666	C	A	956666	2	1	179	1	0	0	0	0	0	0	0	1	4473	465	17	5		5	DGKQ	4	956666	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08		956666	190197610	13	12663											
PRKG2	5593	broad.mit.edu	37	chr4	82056416	82056416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctgtcacacaagcaaCgcagaatttggaggtgggtt	10	11	12	8	1	2	1	1	0	1	1	2	2	2	2	0	3	3	4	0	3	3	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:82056416C>T	ENST00000395578.1	-	14	1785	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	PRKG2_ENST00000418486.2_Missense_Mutation_p.V528I|PRKG2_ENST00000264399.1_Missense_Mutation_p.V557I|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.V137I			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACACAAGCAACGCAGAATTTG	0.413																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1669-1671)Gtt>Att		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							132	126	128					4																	82056416		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82056416C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1669G>A	4.37:g.82056416C>T	ENSP00000378945:p.Val557Ile					PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I	p.V557I	NM_006259	NP_006250	Q13237	KGP2_HUMAN			12	1682	-			557			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1669G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580916	0.46006	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.286388	0.39274	N	0.001415	T	0.38134	0.1029	N	0.05306	-0.075	0.46798	D	0.999204	B;B	0.29037	0.231;0.049	B;B	0.28784	0.064;0.094	T	0.36407	-0.9749	10	0.10902	T	0.67	-22.7833	12.8838	0.58032	0.0:0.9252:0.0:0.0748	.	528;557	E7EPE6;Q13237	.;KGP2_HUMAN	I	557;557;528;137	ENSP00000378945:V557I;ENSP00000264399:V557I;ENSP00000389038:V528I;ENSP00000439967:V137I	ENSP00000264399:V557I	V	-	1	0	PRKG2	82275440	0.916000	0.31088	0.700000	0.30305	0.989000	0.77384	1.688000	0.37690	2.720000	0.93068	0.650000	0.86243	GTT		0.413	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		T	82056416	C	T	82056416	3	4	179	1	0	0	0	0	1	0	0	0	12523	536	19	1	643	1	PRKG2	4	82056416	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	81099750	82056416	109097860	14	12664											
FAT4	79633	broad.mit.edu	37	chr4	126372061	126372061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaatgaatatgtgccccGttttgtttccaaactttact	11	15	6	9	1	0	1	0	1	0	0	1	2	1	1	3	0	3	2	3	0	5	6	rs370611770		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:126372061G>A	ENST00000394329.3	+	9	9903	c.9890G>A	c.(9889-9891)cGt>cAt	p.R3297H	FAT4_ENST00000335110.5_Missense_Mutation_p.R1595H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3297	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGTGCCCCGTTTTGTTTCC	0.403																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9889-9891)cGt>cAt		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	57	59	58		9890	5.4	1	4		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	3297/4982	126372061	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372061G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9890G>A	4.37:g.126372061G>A	ENSP00000377862:p.Arg3297His					FAT4_uc011cgp.2_Missense_Mutation_p.R1595H|FAT4_uc003ifi.1_Missense_Mutation_p.R775H	p.R3297H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			8	9890	+			3297			Cadherin 31.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9890G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.48	3.398961	0.62177	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.42	5.42	0.78866	Cadherin (2);Cadherin-like (1);	0.000000	0.35262	U	0.003335	T	0.07234	0.0183	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.988;0.998	T	0.48758	-0.9007	10	0.36615	T	0.2	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1595;3297;3297	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3297;1595	ENSP00000377862:R3297H;ENSP00000335169:R1595H	ENSP00000335169:R1595H	R	+	2	0	FAT4	126591511	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	9.666000	0.98612	2.542000	0.85734	0.655000	0.94253	CGT		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126372061	G	A	126372061	3	1	179	1	0	0	0	0	1	0	0	0	5692	1145	40	1	9924	1	FAT4	4	126372061	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	44315645	126372061	64782215	15	12665											
DCHS2	54798	broad.mit.edu	37	chr4	155241880	155241880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtggatgagaaatggattCgtgccagggttgtgggattc	8	11	18	4	1	0	1	0	1	0	1	2	5	0	4	1	5	1	1	1	5	1	3	rs372810438		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:155241880C>T	ENST00000357232.4	-	14	3305	c.3306G>A	c.(3304-3306)acG>acA	p.T1102T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1102	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAATGGATTCGTGCCAGGGT	0.453																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3304-3306)acG>acA		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							363	391	381					4																	155241880		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241880C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3306G>A	4.37:g.155241880C>T							p.T1102T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	13	3306	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1102			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.3306G>A	CCDS3785.1																																																																																				0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155241880	C	T	155241880	2	4	179	1	0	0	0	0	0	0	0	1	4288	871	31	2		2	DCHS2	4	155241880	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	28869819	155241880	35912396	16	12666											
KIAA1430	57587	broad.mit.edu	37	chr4	186111564	186111564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagactgaagagggctaaTgtctggagttgataagggac	15	8	14	4	0	1	4	0	2	1	2	1	6	1	6	0	3	0	2	0	3	5	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:186111564T>C	ENST00000458385.2	-	2	906	c.787A>G	c.(787-789)Att>Gtt	p.I263V	KIAA1430_ENST00000296775.6_Missense_Mutation_p.I263V|KIAA1430_ENST00000514798.1_Missense_Mutation_p.I263V	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		263										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AGAGGGCTAATGTCTGGAGTT	0.398																																						uc003ixf.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(787-789)Att>Gtt		Homo sapiens KIAA1430 (KIAA1430), mRNA.							104	89	94					4																	186111564		1880	4105	5985	SO:0001583	missense	57587							g.chr4:186111564T>C																												ENST00000458385.2:c.787A>G	4.37:g.186111564T>C	ENSP00000409964:p.Ile263Val					KIAA1430_uc003ixg.3_Missense_Mutation_p.I263V	p.I263V	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	1	934	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	263					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.787A>G	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.521011	0.27211	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.46819	1.44;0.86;0.86	5.55	3.05	0.35203	.	0.134406	0.47093	N	0.000241	T	0.36880	0.0983	L	0.48642	1.525	0.27324	N	0.956962	B;B	0.26081	0.141;0.087	B;B	0.22753	0.041;0.018	T	0.19549	-1.0302	10	0.25751	T	0.34	-2.5019	9.971	0.41754	0.0:0.1401:0.0:0.8599	.	263;263	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	V	263	ENSP00000409964:I263V;ENSP00000423312:I263V;ENSP00000296775:I263V	ENSP00000296775:I263V	I	-	1	0	KIAA1430	186348558	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.719000	0.54926	0.993000	0.38866	0.533000	0.62120	ATT		0.398	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			C	186111564	T	C	186111564	3	2	179	1	0	0	0	0	1	0	0	0	8232	1464	51	4	827	4	KIAA1430	4	186111564	Missense_Mutation	SNP	T	TCGA-26-5139-01A-01D-1486-08	30869684	186111564	5042712	17	12667											
TUBB4Q	56604	broad.mit.edu	37	chr4	190904404	190904404	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtctcatctgcgttttcTatgagctggtggactgagag	8	13	13	7	1	3	2	1	2	3	1	4	4	3	3	0	3	2	2	0	3	2	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:190904404T>C								FRG1 (20045 upstream) : RNA5SP174 (31888 downstream)																							CTGCGTTTTCTATGAGCTGGT	0.507																																						uc011clg.2																			0											c.(361-363)atA>atG		Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.							22	35	31					4																	190904404		1840	3964	5804	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190904404T>C																													4.37:g.190904404T>C							p.I121M			Q99867	TBB4Q_HUMAN			3	581	-			193						Missense_Mutation	SNP		37	c.363A>G																																																																																				0	0.507									C	190904404	T	C	190904404	1	2	179	0	1	0	0	0	0	0	0	0	16756	1512	53	4		4	TUBB4Q	4	190904404	IGR	SNP	T	TCGA-26-5139-01A-01D-1486-08	4792840	190904404	249872	18	12668											
CDH18	1016	broad.mit.edu	37	chr5	19544032	19544032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagtttcttctctgtcgaGaacctttgtagtcctaatgg	7	16	10	8	1	2	1	0	0	2	1	5	3	3	2	2	2	1	2	2	2	3	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:19544032G>A	ENST00000507958.1	-	11	2326	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F	CDH18_ENST00000274170.4_Missense_Mutation_p.L446F|CDH18_ENST00000506372.1_Missense_Mutation_p.L446F|CDH18_ENST00000382275.1_Missense_Mutation_p.L446F|CDH18_ENST00000511273.1_Missense_Mutation_p.L446F|CDH18_ENST00000502796.1_Missense_Mutation_p.L446F			Q13634	CAD18_HUMAN	cadherin 18, type 2	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTCTGTCGAGAACCTTTGTA	0.363																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1336-1338)Ctc>Ttc		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							146	137	140					5																	19544032		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544032G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1336C>T	5.37:g.19544032G>A	ENSP00000425093:p.Leu446Phe					CDH18_uc011cnm.2_Missense_Mutation_p.L446F|CDH18_uc003jgc.3_Missense_Mutation_p.L446F|CDH18_uc021xwu.1_Missense_Mutation_p.L446F	p.L446F	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1870	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		446			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1336C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250457	0.59212	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.14	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.074244	0.56097	D	0.000036	T	0.79569	0.4468	M	0.86740	2.835	0.39258	D	0.964158	B;B	0.29481	0.154;0.245	B;B	0.39771	0.309;0.211	T	0.78265	-0.2271	9	.	.	.	.	9.5957	0.39573	0.1716:0.0:0.8284:0.0	.	446;446	B4DHG6;Q13634	.;CAD18_HUMAN	F	446;446;446;446;446;446;392;446	ENSP00000371710:L446F;ENSP00000425093:L446F;ENSP00000274170:L446F;ENSP00000424931:L446F;ENSP00000422138:L446F;ENSP00000427383:L392F;ENSP00000425854:L446F	.	L	-	1	0	CDH18	19579789	1.000000	0.71417	0.938000	0.37757	0.832000	0.47134	4.938000	0.63519	1.178000	0.42870	0.313000	0.20887	CTC		0.363	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19544032	G	A	19544032	3	1	179	1	0	0	0	0	1	0	0	0	3103	942	33	3	1056	3	CDH18	5	19544032	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		19544032	161371228	19	12669											
PIK3R1	5295	broad.mit.edu	37	chr5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-																															cttttcaaaactgtttttcaGgtggttgactcaaaaaggtg																										TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:67591247_67591249delGGT	ENST00000521381.1	+	14	2361_2363	c.1745_1747delGGT	c.(1744-1749)aggtgg>agg	p.W583del	PIK3R1_ENST00000396611.1_Splice_Site_p.W583del|PIK3R1_ENST00000523872.1_Splice_Site_p.W220del|PIK3R1_ENST00000336483.5_Splice_Site_p.W313del|PIK3R1_ENST00000521657.1_Splice_Site_p.W583del|PIK3R1_ENST00000274335.5_Splice_Site_p.W583del|PIK3R1_ENST00000320694.8_Splice_Site_p.W283del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	583					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		10	Complex - deletion inframe(4)|Unknown(4)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)	large_intestine(4)|ovary(2)|central_nervous_system(2)|lung(1)|breast(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14-1		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591247_67591249delGGT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1746-1GGT>-	5.37:g.67591250_67591252delGGT		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	p.M582_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2326	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	582					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	DEL	ENST00000521381.1	37	c.1746_splice	CCDS3993.1																																																																																				0.365	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	In_Frame_Del	-	67591249	GGT	-	67591247	8	5	179	1	0	1	0	1	0	0	1	0	11918	1014	35	0	1925	0	PIK3R1	5	67591247	Splice_Site	DEL	GGT	TCGA-26-5139-01A-01D-1486-08	48047215	67591247	113324013	20	12670											
CDK7	1022	broad.mit.edu	37	chr5	68555711	68555711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggcagattttggcctgGccaaatcttttgggagcccc	8	11	11	11	0	1	1	0	0	1	1	1	2	1	2	4	4	2	1	4	4	2	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:68555711G>A	ENST00000256443.3	+	7	578	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	CDK7_ENST00000502604.1_Missense_Mutation_p.A66T|CDK7_ENST00000514676.1_Missense_Mutation_p.A122T|CDK7_ENST00000513629.1_Intron	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTTTGGCCTGGCCAAATCTTT	0.388								Nucleotide excision repair (NER)																														uc003jvs.4																			0				endometrium(1)|lung(2)	3						c.(475-477)Gcc>Acc	Nucleotide excision repair (NER)	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.							68	71	70					5																	68555711		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68555711G>A		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.475G>A	5.37:g.68555711G>A	ENSP00000256443:p.Ala159Thr					CDK7_uc021xzo.1_Missense_Mutation_p.A159T|CDK7_uc003jvt.4_Missense_Mutation_p.A118T	p.A159T	NM_001799	NP_001790	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	6	656	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	159			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.475G>A	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591339	0.96590	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87120	0.2190	10	0.87932	D	0	.	18.5748	0.91150	0.0:0.0:1.0:0.0	.	122;159	D6RAD4;P50613	.;CDK7_HUMAN	T	66;159;122;66	ENSP00000425043:A66T;ENSP00000256443:A159T;ENSP00000422737:A122T;ENSP00000422121:A66T	ENSP00000256443:A159T	A	+	1	0	CDK7	68591467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.473000	0.97714	2.764000	0.94973	0.491000	0.48974	GCC		0.388	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		A	68555711	G	A	68555711	3	1	179	1	0	0	0	0	1	0	0	0	3149	1203	42	3	501	3	CDK7	5	68555711	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	964464	68555711	112359549	21	12671											
FAM13B	51306	broad.mit.edu	37	chr5	137275998	137275998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttcttgtactctctgtaCtcctcaagcactggaacacg	9	14	6	12	1	3	0	1	0	2	0	5	1	4	1	1	1	4	3	1	1	4	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:137275998C>T	ENST00000033079.3	-	23	3115	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	PKD2L2_ENST00000290431.5_3'UTR|FAM13B_ENST00000425075.2_Silent_p.E764E|FAM13B_ENST00000420893.2_Silent_p.E860E|PKD2L2_ENST00000502810.1_3'UTR|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000508638.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	888					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ACTCTCTGTACTCCTCAAGCA	0.353																																						uc003lbz.2																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(2662-2664)gaG>gaA		Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.							107	103	104					5																	137275998		2203	4300	6503	SO:0001819	synonymous_variant	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137275998C>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2664G>A	5.37:g.137275998C>T						FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.3_3'UTR|PKD2L2_uc003lby.3_Intron|PKD2L2_uc011cyi.1_3'UTR	p.E888E	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			22	3198	-			888					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.2664G>A	CCDS4195.1																																																																																				0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			T	137275998	C	T	137275998	2	4	179	1	0	0	0	0	0	0	0	1	5453	564	20	3		3	FAM13B	5	137275998	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	68720287	137275998	43639262	22	12672											
PREP	5550	broad.mit.edu	37	chr6	105800946	105800946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacatagcggccatcatCagataactaaaaaagaaaaa	22	5	6	8	1	2	3	2	0	0	3	2	3	2	3	1	1	2	0	1	1	8	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr6:105800946C>T	ENST00000369110.3	-	7	916	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	242					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGCCATCATCAGATAACTAA	0.353																																						uc003prc.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(724-726)Gat>Aat		Homo sapiens prolyl endopeptidase (PREP), mRNA.	Oxytocin(DB00107)						111	116	115					6																	105800946		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800946C>T		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.724G>A	6.37:g.105800946C>T	ENSP00000358106:p.Asp242Asn						p.D242N	NM_002726	NP_002717	P48147	PPCE_HUMAN			6	957	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	242					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.724G>A	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621367	0.66787	.	.	ENSG00000085377	ENST00000369110	T	0.42900	0.96	5.56	4.68	0.58851	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.124969	0.64402	D	0.000001	T	0.37919	0.1021	M	0.77406	2.37	0.54753	D	0.999982	B	0.33022	0.394	B	0.38225	0.268	T	0.42716	-0.9435	10	0.56958	D	0.05	-29.3639	13.1292	0.59371	0.0:0.9212:0.0:0.0788	.	242	P48147	PPCE_HUMAN	N	242	ENSP00000358106:D242N	ENSP00000358106:D242N	D	-	1	0	PREP	105907639	0.999000	0.42202	0.955000	0.39395	0.896000	0.52359	4.630000	0.61297	2.775000	0.95449	0.655000	0.94253	GAT		0.353	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			T	105800946	C	T	105800946	3	4	179	1	0	0	0	0	1	0	0	0	12474	826	29	3	1444	3	PREP	6	105800946	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		105800946	65314121	23	12673											
SLC29A4	222962	broad.mit.edu	37	chr7	5340251	5340251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagcgtgcccatgatcCtggcggcaggcaaagtgagc	8	6	15	12	3	0	2	0	2	0	0	2	2	1	2	2	4	3	3	2	4	1	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:5340251C>T	ENST00000396872.3	+	10	1569	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000297195.4_Silent_p.L470L|SLC29A4_ENST00000406453.3_Silent_p.L456L			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	470					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCCCATGATCCTGGCGGCAGG	0.706																																						uc003sod.3																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1408-1410)Ctg>Ttg		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							50	48	49					7																	5340251		2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5340251C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1408C>T	7.37:g.5340251C>T						SLC29A4_uc003soc.3_Silent_p.L470L|SLC29A4_uc003soe.3_Silent_p.L456L	p.L470L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	9	1569	+		Ovarian(82;0.0175)	470					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.1408C>T	CCDS5340.1																																																																																				0.706	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5340251	C	T	5340251	2	4	179	1	0	0	0	0	0	0	0	1	14537	680	24	3		3	SLC29A4	7	5340251	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08		5340251	153798412	24	12674											
DNAH11	8701	broad.mit.edu	37	chr7	21641054	21641054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttataaaggagacagattccGgacttcagagagaattaaat	17	10	9	5	1	1	4	1	0	0	4	2	7	2	5	1	2	0	0	1	2	6	5	rs183521702	byFrequency	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:21641054G>A	ENST00000409508.3	+	18	3497	c.3466G>A	c.(3466-3468)Gga>Aga	p.G1156R	DNAH11_ENST00000328843.6_Missense_Mutation_p.G1156R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1156	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACAGATTCCGGACTTCAGAG	0.343									Kartagener syndrome				G|||	5	0.000998403	0.0038	0	5008	,	,		18088	0		0	False		,,,				2504	0					uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3466-3468)Gga>Aga		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.		G	ARG/GLY	21,3613		0,21,1796	80	79	79		3466	5.7	1	7		79	1,8155		0,1,4077	yes	missense	DNAH11	NM_003777.3	125	0,22,5873	AA,AG,GG		0.0123,0.5779,0.1866	possibly-damaging	1156/4524	21641054	22,11768	1817	4078	5895	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21641054G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3466G>A	7.37:g.21641054G>A	ENSP00000475939:p.Gly1156Arg						p.G1156R	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			17	3497	+			1156			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3466G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.57	2.873196	0.51695	0.005779	1.23E-4	ENSG00000105877	ENST00000328843	T	0.23147	1.92	5.7	5.7	0.88788	.	0.058880	0.64402	D	0.000002	T	0.11537	0.0281	.	.	.	0.49687	D	0.999819	P	0.38788	0.647	B	0.30495	0.116	T	0.05767	-1.0865	9	0.23302	T	0.38	.	12.7537	0.57321	0.0753:0.0:0.9247:0.0	.	1156	Q96DT5	DYH11_HUMAN	R	1156	ENSP00000330671:G1156R	ENSP00000330671:G1156R	G	+	1	0	DNAH11	21607579	1.000000	0.71417	0.957000	0.39632	0.598000	0.36846	6.313000	0.72844	2.705000	0.92388	0.650000	0.86243	GGA		0.343	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21641054	G	A	21641054	3	1	179	1	0	0	0	0	1	0	0	0	4599	1117	39	2	3536	2	DNAH11	7	21641054	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	16300803	21641054	137497609	25	12675											
EGFR	1956	broad.mit.edu	37	chr7	55220278	55220278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagtgctccgggcgctGccgtggcaagtcccccagtg	5	6	14	16	3	0	0	0	0	0	0	2	0	2	0	5	2	3	4	5	2	1	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55220278G>A	ENST00000275493.2	+	6	845	c.668G>A	c.(667-669)tGc>tAc	p.C223Y	EGFR_ENST00000344576.2_Missense_Mutation_p.C223Y|EGFR_ENST00000342916.3_Missense_Mutation_p.C223Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C170Y|EGFR_ENST00000420316.2_Missense_Mutation_p.C223Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C178Y|EGFR_ENST00000442591.1_Missense_Mutation_p.C223Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	223			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCCGGGCGCTGCCGTGGCAAG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)|p.R222C(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(667-669)tGc>tAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						84	96	92					7																	55220278		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220278G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.668G>A	7.37:g.55220278G>A	ENSP00000275493:p.Cys223Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.C223Y|EGFR_uc003tqi.3_Missense_Mutation_p.C223Y|EGFR_uc003tqj.3_Missense_Mutation_p.C223Y|EGFR_uc022adm.1_Missense_Mutation_p.C223Y|EGFR_uc010kzg.2_Missense_Mutation_p.C178Y|EGFR_uc022adn.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.2_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_Non-coding_Transcript	p.C223Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	914	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		223					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.668G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783058	0.90282	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0	D	0.97976	1.0346	10	0.87932	D	0	.	17.5084	0.87753	0.0:0.0:1.0:0.0	.	178;223;223;223;223	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	178;223;93;223;223;223;223;170;17	ENSP00000415559:C178Y;ENSP00000342376:C223Y;ENSP00000345973:C223Y;ENSP00000413843:C223Y;ENSP00000275493:C223Y;ENSP00000410031:C223Y;ENSP00000395243:C170Y	ENSP00000275493:C223Y	C	+	2	0	EGFR	55187772	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.778000	0.99011	2.448000	0.82819	0.655000	0.94253	TGC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55220278	G	A	55220278	3	1	179	1	0	0	0	0	1	0	0	0	4967	1319	46	3	690	3	EGFR	7	55220278	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	33579224	55220278	103918385	26	12676											
EGFR	1956	broad.mit.edu	37	chr7	55238870	55238870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcacttcctacagatGcactgggccaggtcttgaag	8	12	9	12	0	3	2	1	1	2	1	4	2	4	2	2	2	2	1	2	2	2	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55238870G>T	ENST00000275493.2	+	16	2060	c.1883G>T	c.(1882-1884)tGc>tTc	p.C628F	EGFR_ENST00000454757.2_Missense_Mutation_p.C575F|EGFR_ENST00000455089.1_Missense_Mutation_p.C583F|EGFR_ENST00000442591.1_Missense_Mutation_p.C628F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	628					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCCTACAGATGCACTGGGCCA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1882-1884)tGc>tTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						134	119	124					7																	55238870		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55238870G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1883G>T	7.37:g.55238870G>T	ENSP00000275493:p.Cys628Phe	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.C628F|EGFR_uc010kzg.2_Missense_Mutation_p.C583F|EGFR_uc022adn.1_Missense_Mutation_p.C583F|EGFR_uc011kco.2_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	p.C628F	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2129	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		628					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1883G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996769	0.54147	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.54	5.54	0.83059	Growth factor, receptor (1);	0.087063	0.85682	D	0.000000	T	0.78991	0.4371	H	0.97635	4.045	0.80722	D	1	D;D	0.59767	0.986;0.969	P;P	0.55455	0.746;0.776	D	0.86469	0.1784	10	0.87932	D	0	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	583;628	Q504U8;P00533	.;EGFR_HUMAN	F	583;498;628;628;575;422	ENSP00000415559:C583F;ENSP00000275493:C628F;ENSP00000410031:C628F;ENSP00000395243:C575F	ENSP00000275493:C628F	C	+	2	0	EGFR	55206364	1.000000	0.71417	0.970000	0.41538	0.066000	0.16364	7.285000	0.78660	2.768000	0.95171	0.561000	0.74099	TGC		0.393	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55238870	G	T	55238870	3	4	179	1	0	0	0	0	1	0	0	0	4967	1319	46	5	2209	5	EGFR	7	55238870	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	18592	55238870	103899793	27	12677											
POM121C	100101267	broad.mit.edu	37	chr7	75068439	75068439	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttaggcacaaaagaagcGgggactccactggccaccag	13	5	11	12	1	0	1	0	0	0	1	1	2	1	2	3	4	2	1	3	4	5	2	rs587689353		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:75068439G>T	ENST00000257665.5	-	4	1016	c.1017C>A	c.(1015-1017)ccC>ccA	p.P339P	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Silent_p.P97P			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	339	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAAAAGAAGCGGGGACTCCAC	0.468																																						uc003udk.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(289-291)ccC>ccA		Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.							168	167	167					7																	75068439		2203	4300	6503	SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75068439G>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1017C>A	7.37:g.75068439G>T						POM121C_uc010lde.1_Silent_p.P339P	p.P97P	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			5	1176	-			339			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.291C>A																																																																																					0.468	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		T	75068439	G	T	75068439	2	4	179	1	0	0	0	0	0	0	0	1	12240	1103	39	5		5	POM121C	7	75068439	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	19829569	75068439	84070224	28	12678											
MYOM2	9172	broad.mit.edu	37	chr8	2005570	2005570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcacgctcccaggcccGcgacaagctggacaaatacg	10	4	11	16	4	0	0	0	0	0	0	1	2	1	1	3	3	2	3	3	3	3	1	rs147661043		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:2005570G>A	ENST00000262113.4	+	4	509	c.368G>A	c.(367-369)cGc>cAc	p.R123H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	123					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R123H(2)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCCAGGCCCGCGACAAGCTG	0.617																																						uc003wpx.4																			2	Substitution - Missense(2)	p.R123H(4)	large_intestine(1)|endometrium(1)	autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(367-369)cGc>cAc		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							29	30	30					8																	2005570		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2005570G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.368G>A	8.37:g.2005570G>A	ENSP00000262113:p.Arg123His					MYOM2_uc011kwi.2_Intron	p.R123H	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	3	506	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	123					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.368G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641288	0.29157	.	.	ENSG00000036448	ENST00000262113	T	0.56611	0.45	4.71	-0.21	0.13176	.	0.326897	0.26792	N	0.022472	T	0.47544	0.1451	M	0.63843	1.955	0.09310	N	1	P	0.43662	0.814	B	0.41374	0.355	T	0.46992	-0.9151	10	0.72032	D	0.01	.	10.4822	0.44700	0.1944:0.0:0.8056:0.0	.	123	P54296	MYOM2_HUMAN	H	123	ENSP00000262113:R123H	ENSP00000262113:R123H	R	+	2	0	MYOM2	1992977	0.034000	0.19679	0.000000	0.03702	0.015000	0.08874	0.763000	0.26517	-0.346000	0.08312	-0.258000	0.10820	CGC		0.617	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2005570	G	A	2005570	3	1	179	1	0	0	0	0	1	0	0	0	10092	1087	38	1	378	1	MYOM2	8	2005570	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		2005570	144358452	29	12679											
CHRNB3	1142	broad.mit.edu	37	chr8	42587374	42587374	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcatgatttttgtgacCctgtccatcattgttaccgt	7	18	6	10	1	3	2	3	2	0	0	4	2	4	2	3	0	1	1	3	0	1	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:42587374C>A	ENST00000289957.2	+	5	1052	c.924C>A	c.(922-924)acC>acA	p.T308T		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	308					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TTTTTGTGACCCTGTCCATCA	0.448																																						uc003xpi.1																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(922-924)acC>acA		Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.							311	269	283					8																	42587374		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587374C>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.924C>A	8.37:g.42587374C>A							p.T308T	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	1052	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	308					Q15827	Silent	SNP	ENST00000289957.2	37	c.924C>A	CCDS6134.1																																																																																				0.448	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			A	42587374	C	A	42587374	2	1	179	1	0	0	0	0	0	0	0	1	3392	610	22	5		5	CHRNB3	8	42587374	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	40581804	42587374	103776648	30	12680											
KCNV1	27012	broad.mit.edu	37	chr8	110984560	110984560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggacaatgcgccccacGttctccagctcctgcgtggt	6	9	10	16	3	1	0	0	0	1	0	3	1	2	1	5	2	3	2	5	2	1	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:110984560G>A	ENST00000524391.1	-	3	1950	c.918C>T	c.(916-918)aaC>aaT	p.N306N	KCNV1_ENST00000297404.1_Silent_p.N306N|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	306					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGCCCCACGTTCTCCAGCT	0.532																																						uc003ynr.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(916-918)aaC>aaT		Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.							92	77	82					8																	110984560		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984560G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.918C>T	8.37:g.110984560G>A						KCNV1_uc010mcw.3_Silent_p.N306N	p.N306N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		1	1722	-	all_neural(195;0.219)		306					Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.918C>T	CCDS6314.1																																																																																				0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		A	110984560	G	A	110984560	2	1	179	1	0	0	0	0	0	0	0	1	8094	1136	40	1		1	KCNV1	8	110984560	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	68397186	110984560	35379462	31	12681											
GCNT1	2650	broad.mit.edu	37	chr9	79117571	79117571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcggtggacacctgacGactatataaacatgaccagt	12	8	9	12	2	0	2	0	2	0	0	1	4	0	3	3	2	1	0	3	2	4	3	rs368814183		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr9:79117571G>A	ENST00000376730.4	+	4	757	c.274G>A	c.(274-276)Gac>Aac	p.D92N	GCNT1_ENST00000442371.1_Missense_Mutation_p.D92N|GCNT1_ENST00000536223.1_Missense_Mutation_p.D92N|GCNT1_ENST00000444201.2_Missense_Mutation_p.D92N	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	92	Stem region. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GACACCTGACGACTATATAAA	0.393																																						uc022bif.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(274-276)Gac>Aac		Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.		A	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	105	110	108		274,274,274,274,274	4	0.7	9		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	GCNT1	NM_001097633.1,NM_001097634.1,NM_001097635.1,NM_001097636.1,NM_001490.4	23,23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	92/429,92/429,92/429,92/429,92/429	79117571	1,13005	2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117571G>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.274G>A	9.37:g.79117571G>A	ENSP00000365920:p.Asp92Asn					GCNT1_uc010mpf.3_Missense_Mutation_p.D92N|GCNT1_uc010mpg.3_Missense_Mutation_p.D92N|GCNT1_uc010mph.3_Missense_Mutation_p.D92N|GCNT1_uc004akf.4_Missense_Mutation_p.D92N|GCNT1_uc010mpi.3_Missense_Mutation_p.D92N|GCNT1_uc004akh.4_Missense_Mutation_p.D92N	p.D92N	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			0	274	+			92			Stem region (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.274G>A	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	9.809	1.182515	0.21870	0.0	1.16E-4	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.84	4.03	0.46877	.	0.108515	0.64402	N	0.000007	T	0.49864	0.1582	M	0.80183	2.485	0.32525	N	0.535763	P	0.45672	0.864	B	0.39771	0.309	T	0.65401	-0.6177	9	.	.	.	.	12.8565	0.57888	0.1317:0.0:0.8683:0.0	.	92	Q02742	GCNT1_HUMAN	N	92	ENSP00000440883:D92N;ENSP00000415454:D92N;ENSP00000390703:D92N;ENSP00000365920:D92N	.	D	+	1	0	GCNT1	78307391	1.000000	0.71417	0.672000	0.29872	0.038000	0.13279	5.334000	0.65923	0.837000	0.34925	-0.127000	0.14921	GAC		0.393	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		A	79117571	G	A	79117571	3	1	179	1	0	0	0	0	1	0	0	0	6300	1058	37	2	276	2	GCNT1	9	79117571	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		79117571	62095860	32	12682											
OR4C46	119749	broad.mit.edu	37	chr11	51516009	51516009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtctcccacatcaCggttgtcatcttattctttg	6	16	6	13	1	5	0	2	0	3	0	6	0	5	0	2	1	0	1	2	1	1	4	rs137991158		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr11:51516009C>T	ENST00000328188.1	+	1	728	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCCACATCACGGTTGTCATC	0.468													.|||	1	0.000199681	0	0	5008	,	,		19962	0.001		0	False		,,,				2504	0					uc010ric.2																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(727-729)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.		C	MET/THR	1,4401		0,1,2200	135	114	121		728	1.4	0.3	11	dbSNP_134	121	0,8592		0,0,4296	no	missense	OR4C46	NM_001004703.1	81	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	243/310	51516009	1,12993	2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516009C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.728C>T	11.37:g.51516009C>T	ENSP00000329056:p.Thr243Met						p.T243M	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			0	728	+			243						Missense_Mutation	SNP	ENST00000328188.1	37	c.728C>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	7.494	0.651307	0.14516	2.27E-4	0.0	ENSG00000185926	ENST00000328188	T	0.38401	1.14	2.33	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.40767	0.1130	L	0.60904	1.88	0.09310	N	1	D	0.59357	0.985	P	0.53146	0.719	T	0.19712	-1.0297	10	0.52906	T	0.07	.	6.9475	0.24526	0.0:0.8456:0.0:0.1544	.	243	A6NHA9	O4C46_HUMAN	M	243	ENSP00000329056:T243M	ENSP00000329056:T243M	T	+	2	0	OR4C46	51372585	0.000000	0.05858	0.345000	0.25642	0.051000	0.14879	-0.509000	0.06336	0.340000	0.23745	0.121000	0.15741	ACG		0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		T	51516009	C	T	51516009	3	4	179	1	0	0	0	0	1	0	0	0	11051	536	19	1	730	1	OR4C46	11	51516009	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		51516009	83490507	33	12683											
LRRC23	10233	broad.mit.edu	37	chr12	7021983	7021983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttgataacccatgcaCggacgaaaccagctaccgcc	11	6	9	15	3	0	1	0	1	0	0	0	3	0	2	4	1	6	4	4	1	3	3	rs78482853		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7021983C>T	ENST00000007969.8	+	7	1068	c.848C>T	c.(847-849)aCg>aTg	p.T283M	ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000544774.1_5'Flank|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Intron|ENO2_ENST00000541477.1_5'Flank|ENO2_ENST00000229277.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|LRRC23_ENST00000443597.2_Missense_Mutation_p.T283M|LRRC23_ENST00000323702.5_Intron|ENO2_ENST00000538763.1_5'Flank	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	283	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AACCCATGCACGGACGAAACC	0.602													C|||	6	0.00119808	0	0	5008	,	,		-128	0.006		0	False		,,,				2504	0					uc001qrt.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(847-849)aCg>aTg		Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.							119	114	116					12																	7021983		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7021983C>T	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.848C>T	12.37:g.7021983C>T	ENSP00000007969:p.Thr283Met					LRRC23_uc001qrp.3_Missense_Mutation_p.T283M|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	p.T283M	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN			6	1240	+			283			LRRCT.		A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.848C>T	CCDS8569.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	9.074	0.997587	0.19043	.	.	ENSG00000010626	ENST00000007969;ENST00000443597	T;T	0.61040	0.14;0.14	5.64	4.74	0.60224	.	.	.	.	.	T	0.44953	0.1318	L	0.52759	1.655	0.22171	N	0.999313	D;D	0.58268	0.977;0.982	P;B	0.45343	0.477;0.365	T	0.43956	-0.9359	9	0.37606	T	0.19	-0.1524	8.9697	0.35899	0.1484:0.7775:0.0:0.0741	.	283;283	A8K8K2;Q53EV4	.;LRC23_HUMAN	M	283	ENSP00000007969:T283M;ENSP00000390932:T283M	ENSP00000007969:T283M	T	+	2	0	LRRC23	6892244	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	1.156000	0.31712	2.633000	0.89246	0.555000	0.69702	ACG		0.602	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		T	7021983	C	T	7021983	3	4	179	1	0	0	0	0	1	0	0	0	8978	536	19	1	870	1	LRRC23	12	7021983	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		7021983	126829912	34	12684											
PTPN6	5777	broad.mit.edu	37	chr12	7061224	7061224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatggaggggagaagtttgcGactctgacagagctggtgga	10	9	17	5	1	1	3	0	1	1	2	1	7	1	5	0	5	2	2	0	5	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7061224G>A	ENST00000318974.9	+	3	454	c.210G>A	c.(208-210)gcG>gcA	p.A70A	PTPN6_ENST00000447931.2_Silent_p.A31A|PTPN6_ENST00000456013.1_Silent_p.A70A|PTPN6_ENST00000399448.1_Silent_p.A72A	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	70	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGAAGTTTGCGACTCTGACAG	0.587																																						uc001qsb.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(208-210)gcG>gcA		Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.							102	119	113					12																	7061224		2202	4299	6501	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7061224G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.210G>A	12.37:g.7061224G>A						PTPN6_uc001qsa.1_Silent_p.A72A|PTPN6_uc010sfr.1_Silent_p.A31A|PTPN6_uc009zfl.1_Silent_p.A70A|PTPN6_uc010sfs.1_Silent_p.A58A	p.A70A	NM_002831	NP_002822	P29350	PTN6_HUMAN			2	452	+			70			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.210G>A	CCDS44820.1																																																																																				0.587	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		A	7061224	G	A	7061224	2	1	179	1	0	0	0	0	0	0	0	1	12792	1045	37	2		2	PTPN6	12	7061224	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	39241	7061224	126790671	35	12685											
ADAMTS20	80070	broad.mit.edu	37	chr12	43823483	43823483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacagttggtaataaagcGgtctcaagtttagaaataaa	18	10	9	4	1	1	2	1	0	1	2	2	2	1	2	0	2	2	3	0	2	9	6	rs376977266		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:43823483G>A	ENST00000389420.3	-	24	3425	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_ENST00000553158.1_Silent_p.T1142T|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1142					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338																																						uc010skx.2																			0		p.A1141S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3424-3426)acC>acT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.		G		0,4406		0,0,2203	60	56	57		3426	-1.6	0	12		57	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ADAMTS20	NM_025003.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		1142/1911	43823483	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43823483G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3426C>T	12.37:g.43823483G>A						ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Silent_p.T296T	p.T1142T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	23	3426	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1142					A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.3426C>T	CCDS31778.2																																																																																				0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43823483	G	A	43823483	2	1	179	1	0	0	0	0	0	0	0	1	266	1103	39	2		2	ADAMTS20	12	43823483	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	36762259	43823483	90028412	36	12686											
GALNT4	8693	broad.mit.edu	37	chr12	89917757	89917757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactctatcaagattgctGatgtaagtttcaagttgtgt	10	16	9	6	1	3	2	2	1	1	1	3	2	3	2	0	0	2	5	0	0	5	6			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:89917757G>T	ENST00000529983.2	-	1	826	c.570C>A	c.(568-570)atC>atA	p.I190I	POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000549504.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B-GALNT4_ENST00000548729.1_Silent_p.I187I|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	190	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CAAGATTGCTGATGTAAGTTT	0.458											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tbd.3																			0				endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(568-570)atC>atA		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.							85	82	83					12																	89917757		1911	4120	6031	SO:0001819	synonymous_variant	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89917757G>T	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.570C>A	12.37:g.89917757G>T			OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.I187I|GALNT4_uc010suo.2_Intron	p.I190I	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN			0	827	-			190			Catalytic subdomain A.		B2R775|B4DMX6|O00208	Silent	SNP	ENST00000529983.2	37	c.570C>A	CCDS53817.1																																																																																				0.458	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89917757	G	T	89917757	2	4	179	1	0	0	0	0	0	0	0	1	6215	1280	45	5		5	GALNT4	12	89917757	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	46094274	89917757	43934138	37	12687											
RIC8B	55188	broad.mit.edu	37	chr12	107177813	107177814	+	Frame_Shift_Ins	INS	-	-	A																															ttgaatcaacagatgaagatINSaaaagaaaggtaagccttgg																								rs376206658		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:107177813_107177814insA	ENST00000392839.2	+	2	229_230	c.123_124insA	c.(124-126)aaafs	p.K42fs	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_5'UTR|RIC8B_ENST00000392837.4_Frame_Shift_Ins_p.K42fs	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	42					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAGATGAAGATAAAAGAAAGGT	0.351																																						uc001tlw.3																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(121-126)gataaafs		Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.																																				SO:0001589	frameshift_variant	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107177813_107177814insA	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.127dupA	12.37:g.107177817_107177817dupA	ENSP00000376583:p.Lys42fs					RIC8B_uc001tlx.3_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.3_5'UTR|RIC8B_uc001tlz.3_Non-coding_Transcript	p.D41fs	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			1	248_249	+			41					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Frame_Shift_Ins	INS	ENST00000392839.2	37	c.123_124insA	CCDS9109.2																																																																																				0.351	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		A	107177814	-	A	107177813	7	5	179	1	0	1	1	0	0	0	0	0	13356	1403	49	0	129	0	RIC8B	12	107177813	Frame_Shift_Ins	INS	-	TCGA-26-5139-01A-01D-1486-08	17260056	107177813	26674082	38	12688											
USP30	84749	broad.mit.edu	37	chr12	109495849	109495849	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcacctcccagtactcCagggatcagaaggagccccc	10	6	10	15	0	2	1	2	0	0	1	4	4	4	3	5	2	2	2	5	2	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:109495849C>A	ENST00000257548.5	+	3	405	c.312C>A	c.(310-312)tcC>tcA	p.S104S	USP30_ENST00000392784.2_Silent_p.S73S|RNA5SP372_ENST00000390836.1_RNA	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	104	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCAGTACTCCAGGGATCAGA	0.478																																						uc010sxi.2																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(310-312)tcC>tcA		Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.							257	258	258					12																	109495849		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495849C>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.312C>A	12.37:g.109495849C>A						USP30_uc001tnu.4_Silent_p.S73S	p.S104S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			2	416	+			104					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.312C>A	CCDS9123.2																																																																																				0.478	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		A	109495849	C	A	109495849	2	1	179	1	0	0	0	0	0	0	0	1	17058	581	21	5		5	USP30	12	109495849	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	2318036	109495849	24356046	39	12689											
CCDC60	160777	broad.mit.edu	37	chr12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaactcgggggctgtcCggcccttttatgcctcggag	4	9	12	16	3	0	0	0	0	0	0	3	1	1	1	5	4	2	1	5	4	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:119773039C>T	ENST00000327554.2	+	1	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.R20W|CCDC60_ENST00000539847.1_Missense_Mutation_p.R20W	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(58-60)Cgg>Tgg		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							69	77	74					12																	119773039		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119773039C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.58C>T	12.37:g.119773039C>T	ENSP00000333374:p.Arg20Trp						p.R20W	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	0	523	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		20						Missense_Mutation	SNP	ENST00000327554.2	37	c.58C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	6.197	0.404573	0.11754	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.48836	0.8;1.83;0.95	4.42	-3.66	0.04489	.	1.591660	0.03532	N	0.222527	T	0.17492	0.0420	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09773	-1.0659	9	.	.	.	0.016	3.2878	0.06937	0.3849:0.3158:0.0:0.2993	.	20	Q8IWA6	CCD60_HUMAN	W	20	ENSP00000445505:R20W;ENSP00000333374:R20W;ENSP00000443403:R20W	.	R	+	1	2	CCDC60	118257422	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.894000	0.04123	-0.330000	0.08514	-0.377000	0.06932	CGG		0.502	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		T	119773039	C	T	119773039	3	4	179	1	0	0	0	0	1	0	0	0	2831	643	23	2	60	2	CCDC60	12	119773039	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	10277190	119773039	14078856	40	12690											
EXD1	161829	broad.mit.edu	37	chr15	41501708	41501708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttcacctgcagccaGcacagtttgccatggcgaca	11	9	8	13	1	2	0	1	0	1	0	2	1	2	0	3	1	4	3	3	1	1	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr15:41501708G>A	ENST00000314992.5	-	5	541	c.351C>T	c.(349-351)tgC>tgT	p.C117C	EXD1_ENST00000458580.2_Silent_p.C175C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	117	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCTGCAGCCAGCACAGTTTGC	0.373																																						uc010ucv.2																			0		p.L175M(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(523-525)tgC>tgT		Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.							62	57	59					15																	41501708		2203	4300	6503	SO:0001819	synonymous_variant	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41501708G>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.351C>T	15.37:g.41501708G>A						EXD1_uc001znk.3_Silent_p.C117C	p.C175C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			6	797	-			117					A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	37	c.525C>T	CCDS10072.1																																																																																				0.373	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		A	41501708	G	A	41501708	2	1	179	1	0	0	0	0	0	0	0	1	5297	963	34	3		3	EXD1	15	41501708	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08		41501708	61029684	41	12691											
PKD1L2	114780	broad.mit.edu	37	chr16	81175094	81175094	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtccttccaggggccaCtccgtgccgccttgggcttg	2	10	13	16	3	0	0	0	0	0	0	3	0	3	0	6	3	1	2	6	3	0	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr16:81175094C>G	ENST00000525539.1	-	0	5224				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGGGCCACTCCGTGCCGC	0.587																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(5224-5226)aGt>aCt		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							19	22	21					16																	81175094		1979	4151	6130			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81175094C>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81175094C>G						PKD1L2_uc002fgg.1_Non-coding_Transcript	p.S1742T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			30	5225	-			1742					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.5225G>C																																																																																					0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			G	81175094	C	G	81175094	1	3	179	0	1	0	0	0	0	0	0	0	11965	565	20	5		5	PKD1L2	16	81175094	RNA	SNP	C	TCGA-26-5139-01A-01D-1486-08		81175094	9179659	42	12692											
POLR2A	5430	broad.mit.edu	37	chr17	7417217	7417217	+	Frame_Shift_Del	DEL	T	T	-																															cccaagtactcgcctaccagTcccacctattcacccaccac																										TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:7417217delT	ENST00000322644.6	+	29	6033	c.5634delT	c.(5632-5634)agtfs	p.S1878fs		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1878	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCCTACCAGTcccacctatt	0.527																																						uc002ghf.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5632-5634)agtfs		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.							224	234	231					17																	7417217		2203	4300	6503	SO:0001589	frameshift_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417217delT			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5634delT	17.37:g.7417217delT	ENSP00000314949:p.Ser1878fs						p.S1878fs	NM_000937	NP_000928	P24928	RPB1_HUMAN			28	6020	+		Prostate(122;0.173)	1878			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Frame_Shift_Del	DEL	ENST00000322644.6	37	c.5634delT	CCDS32548.1																																																																																				0.527	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		-	7417217	T	-	7417217	7	5	179	1	0	1	0	1	0	0	0	0	12214	1664	58	0	5748	0	POLR2A	17	7417217	Frame_Shift_Del	DEL	T	TCGA-26-5139-01A-01D-1486-08		7417217	73777993	43	12693											
AZI1	22994	broad.mit.edu	37	chr17	79164553	79164553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtcctcgaactcctggCggatcacctgggccaggttg	5	8	14	14	3	1	0	1	0	0	0	4	2	3	1	5	5	1	1	5	5	1	1	rs537921227		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:79164553C>T	ENST00000269392.4	-	24	3249	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	AZI1_ENST00000450824.2_Missense_Mutation_p.R998H|AZI1_ENST00000374782.3_Missense_Mutation_p.R962H|AZI1_ENST00000575907.1_Missense_Mutation_p.R965H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1001					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAACTCCTGGCGGATCACCTG	0.692																																						uc002jzp.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(3001-3003)cGc>cAc		Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.							22	23	22					17																	79164553		2202	4296	6498	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79164553C>T																												ENST00000269392.4:c.3002G>A	17.37:g.79164553C>T	ENSP00000269392:p.Arg1001His					AZI1_uc002jzm.1_Missense_Mutation_p.R433H|AZI1_uc002jzn.1_Missense_Mutation_p.R998H|AZI1_uc002jzo.1_Missense_Mutation_p.R962H|AZI1_uc010wum.1_Missense_Mutation_p.R965H|AZI1_uc002jzq.3_Missense_Mutation_p.R149H	p.R1001H	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		23	3202	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1001					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.3002G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.448895	0.84101	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.20332	2.25;2.08;2.25	4.33	3.35	0.38373	.	0.066568	0.64402	N	0.000014	T	0.41259	0.1151	M	0.66939	2.045	0.47153	D	0.999337	D;D;P;P	0.89917	1.0;1.0;0.788;0.788	D;D;B;B	0.68765	0.96;0.96;0.244;0.244	T	0.33214	-0.9877	10	0.66056	D	0.02	-16.9427	12.083	0.53682	0.0:0.9152:0.0:0.0848	.	998;1001;962;998	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	998;962;1001	ENSP00000393583:R998H;ENSP00000363914:R962H;ENSP00000269392:R1001H	ENSP00000269392:R1001H	R	-	2	0	AZI1	76779148	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	3.021000	0.49651	1.037000	0.40024	0.591000	0.81541	CGC		0.692	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			T	79164553	C	T	79164553	3	4	179	1	0	0	0	0	1	0	0	0	1240	768	27	1	261	1	AZI1	17	79164553	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	71747336	79164553	2030657	44	12694											
DSG4	147409	broad.mit.edu	37	chr18	28989414	28989414	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcactttcttgggcaGtggctccactcttgctgctc	4	15	9	13	0	3	0	1	0	2	0	5	0	4	0	1	2	2	4	1	2	0	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:28989414G>A	ENST00000308128.4	+	13	2068		c.e13-1		RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Splice_Site	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4						anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCTTGGGCAGTGGCTCCACT	0.498																																						uc002kwr.2																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.e13-1		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							119	125	123					18																	28989414		2203	4300	6503	SO:0001630	splice_region_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28989414G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1934-1G>A	18.37:g.28989414G>A						DSG4_uc002kwq.2_Splice_Site_p.L645_splice	p.L645_splice	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2069	+			645					A2RUI1|Q6Y9L9|Q8IXV4	Splice_Site	SNP	ENST00000308128.4	37	c.1934_splice	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844417	0.51164	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4765	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG4	27243412	1.000000	0.71417	0.675000	0.29917	0.021000	0.10359	6.309000	0.72825	2.760000	0.94817	0.655000	0.94253	.		0.498	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	Intron	A	28989414	G	A	28989414	5	1	179	1	0	0	0	0	0	0	1	0	4779	1043	36	3	1983	3	DSG4	18	28989414	Splice_Site	SNP	G	TCGA-26-5139-01A-01D-1486-08		28989414	49087834	45	12695											
C18orf34	374864	broad.mit.edu	37	chr18	30950074	30950074	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtgaaatcattttgttGacacaaggtgctggaatatt	12	15	10	4	0	1	2	1	2	0	0	1	3	1	3	0	2	1	2	0	2	4	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:30950074G>C	ENST00000383096.3	-	6	470	c.288C>G	c.(286-288)gtC>gtG	p.V96V	CCDC178_ENST00000403303.1_Silent_p.V96V|CCDC178_ENST00000402325.1_Silent_p.V96V|CCDC178_ENST00000406524.2_Silent_p.V96V|CCDC178_ENST00000579916.1_Silent_p.V96V|CCDC178_ENST00000579947.1_Silent_p.V96V|CCDC178_ENST00000300227.8_Silent_p.V96V|CCDC178_ENST00000583930.1_Silent_p.V96V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	96																	TCATTTTGTTGACACAAGGTG	0.378																																						uc010xbr.1																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						c.(286-288)gtC>gtG		Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.							95	86	89					18																	30950074		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30950074G>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.288C>G	18.37:g.30950074G>C						C18orf34_uc002kxn.2_Silent_p.V96V|C18orf34_uc010dmf.1_Silent_p.V96V|C18orf34_uc002kxo.2_Silent_p.V96V|C18orf34_uc002kxp.3_Silent_p.V96V	p.V96V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			4	430	-			96					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.288C>G	CCDS42424.1																																																																																				0.378	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		C	30950074	G	C	30950074	2	2	179	1	0	0	0	0	0	0	0	1	1902	1277	45	5		5	C18orf34	18	30950074	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	1960660	30950074	47127174	46	12696											
SERPINB13	5275	broad.mit.edu	37	chr18	61262397	61262397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttgtgcttctgcccaaCgacatcgatggcctggagaa	9	11	11	10	2	1	1	0	0	1	1	2	4	1	1	2	2	3	2	2	2	2	2	rs368658099		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:61262397C>T	ENST00000344731.5	+	7	852	c.750C>T	c.(748-750)aaC>aaT	p.N250N	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	250					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTGCCCAACGACATCGATG	0.458																																						uc010xep.2																			1	Substitution - coding silent(1)	p.N250N(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(775-777)aaC>aaT		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.		C		0,4406		0,0,2203	152	140	144		750	1.5	1	18		144	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINB13	NM_012397.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		250/392	61262397	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61262397C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.750C>T	18.37:g.61262397C>T						SERPINB13_uc002ljc.3_Silent_p.N250N|SERPINB13_uc002ljd.3_Silent_p.N114N|SERPINB13_uc010xeq.2_Silent_p.N71N|SERPINB13_uc010xer.2_Silent_p.N71N	p.N259N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			6	945	+			250					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Silent	SNP	ENST00000344731.5	37	c.777C>T	CCDS11985.1																																																																																				0.458	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		T	61262397	C	T	61262397	2	4	179	1	0	0	0	0	0	0	0	1	14100	535	19	1		1	SERPINB13	18	61262397	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	30312323	61262397	16814851	47	12697											
TJP3	27134	broad.mit.edu	37	chr19	3728405	3728405	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcctcatgcccatcttccCcgctcccctcgaccaggtgg	4	9	9	19	2	2	0	1	0	1	0	5	1	4	0	7	3	1	1	7	3	0	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:3728405C>T	ENST00000541714.2	+	2	453				TJP3_ENST00000539908.2_Intron|TJP3_ENST00000382008.3_Intron|TJP3_ENST00000589378.1_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.P11L|TJP3_ENST00000587686.1_Missense_Mutation_p.P11L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3						regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCCCGCTCCCCTC	0.627																																						uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(31-33)cCc>cTc		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							63	48	53					19																	3728405		2203	4300	6503	SO:0001627	intron_variant	27134					tight junction	protein binding	g.chr19:3728405C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.-9-17C>T	19.37:g.3728405C>T						TJP3_uc010xhs.2_Intron|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Intron|TJP3_uc010xhw.2_Missense_Mutation_p.P11L	p.P11L	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	0	32	+			0			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.32C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	3.169	-0.170513	0.06461	.	.	ENSG00000105289	ENST00000262968	T	0.15603	2.41	3.81	-2.81	0.05805	.	0.369626	0.19574	N	0.111029	T	0.08537	0.0212	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18808	-1.0325	9	0.66056	D	0.02	.	1.4122	0.02294	0.1512:0.3254:0.3158:0.2076	.	11;11	O95049-3;O95049-2	.;.	L	11	ENSP00000262968:P11L	ENSP00000262968:P11L	P	+	2	0	TJP3	3679405	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.026000	0.13599	-0.293000	0.08986	0.456000	0.33151	CCC		0.627	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3728405	C	T	3728405	1	4	179	0	1	0	0	0	0	0	0	0	15928	623	22	3		3	TJP3	19	3728405	Intron	SNP	C	TCGA-26-5139-01A-01D-1486-08		3728405	55400578	48	12698											
CD70	970	broad.mit.edu	37	chr19	6586314	6586314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccatgtagatgccatcaCgatggatacgtagctgcccc	10	9	10	12	2	1	1	1	0	0	1	1	3	1	2	4	1	5	4	4	1	4	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:6586314C>T	ENST00000245903.3	-	3	448	c.299G>A	c.(298-300)cGt>cAt	p.R100H	CD70_ENST00000423145.3_Missense_Mutation_p.R100H	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	100					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GATGCCATCACGATGGATACG	0.642																																					Pancreas(183;2617 2876 10173 34193)	uc010xjf.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						c.(298-300)cGt>cAt		Homo sapiens CD70 molecule (CD70), mRNA.							112	79	90					19																	6586314		2203	4300	6503	SO:0001583	missense	970				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	g.chr19:6586314C>T	L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11937	protein-coding gene	gene with protein product		602840	"tumor necrosis factor (ligand) superfamily, member 7"	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.299G>A	19.37:g.6586314C>T	ENSP00000245903:p.Arg100His					CD70_uc002mfi.3_Missense_Mutation_p.R100H	p.R100H	NM_001252	NP_001243	P32970	CD70_HUMAN			2	449	-			100					B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	ENST00000245903.3	37	c.299G>A	CCDS12170.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099502	0.56183	.	.	ENSG00000125726	ENST00000423145;ENST00000245903	D;D	0.94758	-3.51;-3.51	4.32	-1.95	0.07548	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.505078	0.16813	N	0.198478	D	0.83078	0.5176	N	0.19112	0.55	0.09310	N	1	P;B	0.37985	0.613;0.073	B;B	0.29267	0.1;0.013	T	0.76271	-0.3020	10	0.42905	T	0.14	-12.4533	3.3193	0.07044	0.1864:0.3737:0.0:0.4399	.	100;100	B4DPR8;P32970	.;CD70_HUMAN	H	100	ENSP00000395294:R100H;ENSP00000245903:R100H	ENSP00000245903:R100H	R	-	2	0	CD70	6537314	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.578000	0.05841	-0.201000	0.10284	0.556000	0.70494	CGT		0.642	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1			T	6586314	C	T	6586314	3	4	179	1	0	0	0	0	1	0	0	0	3033	536	19	1	286	1	CD70	19	6586314	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	2857909	6586314	52542669	49	12699											
RETN	56729	broad.mit.edu	37	chr19	7734784	7734784	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggctacttgcccccgaGgtgagtgcaggagactgttg	7	9	14	11	1	0	2	0	1	0	1	0	4	0	2	3	3	3	3	3	3	1	3	rs566843624		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:7734784G>A	ENST00000221515.2	+	3	284	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	RETN_ENST00000381324.2_Intron	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	66					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						TTGCCCCCGAGGTGAGTGCAG	0.627																																						uc002mhg.1																			0				ovary(1)	1						c.e3+1		Homo sapiens resistin (RETN), transcript variant 2, mRNA.							47	48	48					19																	7734784		2203	4300	6503	SO:0001630	splice_region_variant	56729						hormone activity	g.chr19:7734784G>A	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.196+1G>A	19.37:g.7734784G>A						RETN_uc002mhf.1_Splice_Site_p.G66_splice|RETN_uc010dvm.1_Intron	p.G66_splice	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN			3	233	+			66					D6W649|Q540D9|Q76B53	Missense_Mutation	SNP	ENST00000221515.2	37	c.196_splice	CCDS12182.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042232	0.55003	.	.	ENSG00000104918	ENST00000221515	T	0.57436	0.4	4.72	3.68	0.42216	.	0.134047	0.33834	N	0.004505	T	0.51176	0.1659	M	0.64676	1.99	0.80722	D	1	P	0.34934	0.476	B	0.39840	0.311	T	0.51403	-0.8710	10	0.49607	T	0.09	-19.4623	9.1079	0.36710	0.1025:0.0:0.8975:0.0	.	66	Q9HD89	RETN_HUMAN	S	66	ENSP00000221515:G66S	ENSP00000221515:G66S	G	+	1	0	RETN	7640784	1.000000	0.71417	0.839000	0.33178	0.036000	0.12997	2.348000	0.44045	1.000000	0.39049	-0.270000	0.10280	GGC		0.627	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415	Missense_Mutation	A	7734784	G	A	7734784	5	1	179	1	0	0	0	0	0	0	1	0	13236	1014	35	3	202	3	RETN	19	7734784	Splice_Site	SNP	G	TCGA-26-5139-01A-01D-1486-08	1148470	7734784	51394199	50	12700											
PODNL1	79883	broad.mit.edu	37	chr19	14046601	14046601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggcagccagatccgCgacacggagggaccggggca	8	5	17	11	4	0	1	0	0	0	1	1	4	1	3	3	6	1	3	3	6	0	2	rs147712582	byFrequency	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:14046601C>T	ENST00000339560.5	-	5	721	c.448G>A	c.(448-450)Gcg>Acg	p.A150T	PODNL1_ENST00000254320.3_Missense_Mutation_p.A68T|PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000538371.2_Missense_Mutation_p.A148T	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	150	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCCAGATCCGCGACACGGAGG	0.667																																						uc002mxr.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(448-450)Gcg>Acg		Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.			THR/ALA,,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	26	28	28		442,,448	3.9	0	19	dbSNP_134	28	0,8600		0,0,4300	no	missense,intron,missense	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	58,,58	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging,,possibly-damaging	148/511,,150/513	14046601	4,13002	2203	4300	6503	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14046601C>T	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.448G>A	19.37:g.14046601C>T	ENSP00000345175:p.Ala150Thr					PODNL1_uc010xni.2_Missense_Mutation_p.A68T|PODNL1_uc010xnj.2_Missense_Mutation_p.A148T|PODNL1_uc002mxs.3_Intron	p.A150T	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		4	722	-			150			Leu-rich.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.448G>A	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282377	0.40394	9.08E-4	0.0	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.24538	1.85;5.5;1.85	4.97	3.92	0.45320	.	0.272209	0.25836	N	0.027983	T	0.36496	0.0969	L	0.44542	1.39	0.09310	N	1	D;D;D	0.69078	0.997;0.975;0.995	P;P;P	0.59948	0.848;0.586;0.866	T	0.10706	-1.0618	10	0.87932	D	0	.	10.7284	0.46083	0.0:0.9077:0.0:0.0923	.	148;68;150	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	T	148;150;68	ENSP00000442553:A148T;ENSP00000345175:A150T;ENSP00000254320:A68T	ENSP00000254320:A68T	A	-	1	0	PODNL1	13907601	0.065000	0.20965	0.004000	0.12327	0.219000	0.24729	3.572000	0.53849	1.080000	0.41073	0.479000	0.44913	GCG		0.667	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		T	14046601	C	T	14046601	3	4	179	1	0	0	0	0	1	0	0	0	12179	768	27	1	1106	1	PODNL1	19	14046601	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	6311817	14046601	45082382	51	12701											
FCGBP	8857	broad.mit.edu	37	chr19	40395990	40395990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcaggtgcccatgaagtcGaagcggcggccatcgaaggt	10	5	15	11	5	0	1	0	1	0	0	2	3	0	1	2	4	2	1	2	4	3	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:40395990G>A	ENST00000221347.6	-	15	7414	c.7407C>T	c.(7405-7407)ttC>ttT	p.F2469F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2469	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGCGGC	0.672																																						uc002omp.4																			0		p.R2468H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7405-7407)ttC>ttT		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							117	88	98					19																	40395990		2181	3910	6091	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40395990G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7407C>T	19.37:g.40395990G>A							p.F2469F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	7415	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2469			VWFD 6.		O95784	Silent	SNP	ENST00000221347.6	37	c.7407C>T	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40395990	G	A	40395990	2	1	179	1	0	0	0	0	0	0	0	1	5778	1049	37	2		2	FCGBP	19	40395990	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	26349389	40395990	18732993	52	12702											
PRR12	57479	broad.mit.edu	37	chr19	50105110	50105110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccggcgagagtggcGgagagggcatcttccgggaa	9	4	20	8	4	1	2	0	0	1	2	2	6	2	4	2	7	0	1	2	7	1	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:50105110G>A	ENST00000418929.2	+	6	4720	c.4708G>A	c.(4708-4710)Gga>Aga	p.G1570R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	749							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGAGAGTGGCGGAGAGGGCAT	0.647																																						uc002poo.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(4708-4710)Gga>Aga		Homo sapiens proline rich 12 (PRR12), mRNA.							23	32	29					19																	50105110		2038	4161	6199	SO:0001583	missense	57479						DNA binding	g.chr19:50105110G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4708G>A	19.37:g.50105110G>A	ENSP00000394510:p.Gly1570Arg						p.G1570R	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	4708	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	749					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.4708G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121058	0.20877	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	3.72	3.72	0.42706	.	0.407398	0.17771	N	0.162569	T	0.75302	0.3831	L	0.60455	1.87	0.49483	D	0.999796	D	0.89917	1.0	D	0.91635	0.999	T	0.78254	-0.2275	9	0.87932	D	0	-11.6601	14.4198	0.67175	0.0:0.0:1.0:0.0	.	1570	Q9ULL5-3	.	R	1570;750;750	.	ENSP00000246798:G750R	G	+	1	0	PRR12	54796922	1.000000	0.71417	0.998000	0.56505	0.270000	0.26580	7.834000	0.86773	1.902000	0.55061	0.305000	0.20034	GGA		0.647	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50105110	G	A	50105110	3	1	179	1	0	0	0	0	1	0	0	0	12584	1117	39	2	4730	2	PRR12	19	50105110	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	9709120	50105110	9023873	53	12703											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcccttcttccagaCgaccgccatgatggcccccg	6	7	11	17	3	1	2	0	1	1	1	2	3	2	2	6	2	1	1	6	2	0	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr22:37482392C>T	ENST00000346753.3	-	8	1047	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V302I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V302I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V302I|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.V311I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	311	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667																																						uc003aqt.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(904-906)Gtc>Atc		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							28	27	27					22																	37482392		2202	4299	6501	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37482392C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.931G>A	22.37:g.37482392C>T	ENSP00000334962:p.Val311Ile					TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			7	966	-			311			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.904G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972292	0.74246	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.55	4.55	0.56014	CUB (1);	0.181737	0.37219	N	0.002199	T	0.64327	0.2588	L	0.34521	1.04	0.43304	D	0.9953	D;D;D	0.76494	0.999;0.995;0.991	P;P;P	0.62089	0.898;0.654;0.452	T	0.67952	-0.5537	10	0.56958	D	0.05	.	16.3113	0.82872	0.0:1.0:0.0:0.0	.	311;302;311	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	I	302;311;302;302;311	ENSP00000371211:V302I;ENSP00000334962:V311I;ENSP00000385453:V302I;ENSP00000384964:V302I;ENSP00000397691:V311I	ENSP00000334962:V311I	V	-	1	0	TMPRSS6	35812338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.185000	0.58330	2.071000	0.62044	0.655000	0.94253	GTC		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37482392	C	T	37482392	3	4	179	1	0	0	0	0	1	0	0	0	16248	536	19	1	1548	1	TMPRSS6	22	37482392	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		37482392	13822174	54	12704											
FAM47B	170062	broad.mit.edu	37	chrX	34962542	34962542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatactgggacaggagaCgccgggcggcaccgcattct	11	6	13	11	4	1	1	0	0	1	1	1	3	1	2	2	4	1	2	2	4	3	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:34962542C>T	ENST00000329357.5	+	1	1630	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	532								p.R532C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACAGGAGACGCCGGGCGGC	0.498																																						uc004ddi.2																			2	Substitution - Missense(2)	p.R532C(4)	large_intestine(1)|endometrium(1)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1594-1596)Cgc>Tgc		Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.							94	84	87					X																	34962542		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962542C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1594C>T	X.37:g.34962542C>T	ENSP00000328307:p.Arg532Cys						p.R532C	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			0	1630	+			532					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1594C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	5.656	0.305749	0.10733	.	.	ENSG00000189132	ENST00000329357	T	0.41758	0.99	0.602	0.602	0.17535	.	.	.	.	.	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	P	0.36768	0.569	B	0.14023	0.01	T	0.11179	-1.0598	8	0.72032	D	0.01	.	.	.	.	.	532	Q8NA70	FA47B_HUMAN	C	532	ENSP00000328307:R532C	ENSP00000328307:R532C	R	+	1	0	FAM47B	34872463	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	0.279000	0.18771	0.543000	0.28864	0.292000	0.19580	CGC		0.498	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		T	34962542	C	T	34962542	3	4	179	1	0	0	0	0	1	0	0	0	5570	536	19	1	1596	1	FAM47B	23	34962542	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		34962542	120308018	55	12705											
WNK3	65267	broad.mit.edu	37	chrX	54319681	54319681	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcccatcgtttgattTgaggaataggctacactggg	10	11	13	7	1	0	3	0	3	0	1	1	5	0	4	1	3	2	2	1	3	3	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:54319681T>C	ENST00000375159.2	-	8	1772	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S	WNK3_ENST00000354646.2_Silent_p.S591S|WNK3_ENST00000375169.3_Silent_p.S591S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	591					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCGTTTGATTTGAGGAATAGG	0.398																																						uc004dtc.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1771-1773)tcA>tcG		Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.							92	82	85					X																	54319681		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54319681T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1773A>G	X.37:g.54319681T>C						WNK3_uc004dtd.2_Silent_p.S591S	p.S591S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN			8	2212	-			591					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.1773A>G	CCDS14357.1																																																																																				0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		C	54319681	T	C	54319681	2	2	179	1	0	0	0	0	0	0	0	1	17376	1799	63	4		4	WNK3	23	54319681	Silent	SNP	T	TCGA-26-5139-01A-01D-1486-08	19357139	54319681	100950879	56	12706											
LAS1L	81887	broad.mit.edu	37	chrX	64744052	64744052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccaatagggcctgcGtgaagttctgggagtgcagg	7	10	14	10	1	2	1	0	1	2	0	4	2	3	2	3	3	2	2	3	3	3	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:64744052G>A	ENST00000374811.3	-	10	1224	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.T378M|LAS1L_ENST00000374804.5_Missense_Mutation_p.T336M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	395					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TAGGGCCTGCGTGAAGTTCTG	0.567																																						uc004dwa.2																			0		p.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1183-1185)aCg>aTg		Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.							43	37	39					X																	64744052		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64744052G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1184C>T	X.37:g.64744052G>A	ENSP00000363944:p.Thr395Met					LAS1L_uc004dwc.2_Missense_Mutation_p.T378M|LAS1L_uc004dwd.2_Missense_Mutation_p.T336M	p.T395M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			9	1275	-			395					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1184C>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454962	0.26161	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.55	3.45	0.39498	.	0.256321	0.37437	N	0.002093	T	0.65302	0.2678	L	0.55481	1.735	0.80722	D	1	D;B;B	0.89917	1.0;0.362;0.205	D;B;B	0.71870	0.975;0.094;0.015	T	0.63193	-0.6692	9	0.37606	T	0.19	.	7.6283	0.28224	0.1479:0.0:0.8521:0.0	.	336;378;395	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	M	378;395;336	.	ENSP00000363937:T336M	T	-	2	0	LAS1L	64660777	0.989000	0.36119	0.998000	0.56505	0.970000	0.65996	2.088000	0.41663	1.875000	0.54330	0.287000	0.19450	ACG		0.567	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		A	64744052	G	A	64744052	3	1	179	1	0	0	0	0	1	0	0	0	8636	1145	40	1	1040	1	LAS1L	23	64744052	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	10424371	64744052	90526508	57	12707											
BTK	695	broad.mit.edu	37	chrX	100611220	100611220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctgcttggtgcagacGccatacaactgcaccagctt	8	8	12	13	2	0	1	0	0	0	1	0	1	0	1	2	2	6	5	2	2	2	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:100611220G>A	ENST00000308731.7	-	15	1549	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> D (in XLA).|G -> V (in XLA).		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTGCAGACGCCATACAACT	0.522									Agammaglobulinemia, X-linked																													uc010nno.2																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1486-1488)ggC>ggT		Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.							59	48	52					X																	100611220		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611220G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1386C>T	X.37:g.100611220G>A						BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.G32G|BTK_uc004ehg.2_Silent_p.G462G|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Silent_p.G462G	p.G496G	NM_000061	NP_000052	Q06187	BTK_HUMAN			14	1721	-			462			Protein kinase.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.1488C>T	CCDS14482.1																																																																																				0.522	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		A	100611220	G	A	100611220	2	1	179	1	0	0	0	0	0	0	0	1	1557	1074	38	1		1	BTK	23	100611220	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	35867168	100611220	54659340	58	12708											
SOX3	6658	broad.mit.edu	37	chrX	139586734	139586734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatctcagaattgtgCatcttggggttctccagggc	6	14	12	9	0	3	2	1	1	3	1	5	2	3	2	1	3	2	3	1	3	1	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:139586734C>G	ENST00000370536.2	-	1	491	c.492G>C	c.(490-492)atG>atC	p.M164I		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	164					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CAGAATTGTGCATCTTGGGGT	0.622																																						uc004fbd.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(490-492)atG>atC		Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.							65	64	64					X																	139586734		2203	4300	6503	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586734C>G		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.492G>C	X.37:g.139586734C>G	ENSP00000359567:p.Met164Ile						p.M164I	NM_005634	NP_005625	P41225	SOX3_HUMAN			0	492	-	Acute lymphoblastic leukemia(192;7.65e-05)		164					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.492G>C	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.191916	0.78902	.	.	ENSG00000134595	ENST00000370536	D	0.97710	-4.5	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.98112	0.9377	M	0.63169	1.94	0.80722	D	1	D	0.65815	0.995	D	0.74023	0.982	D	0.98196	1.0465	9	.	.	.	.	14.7169	0.69275	0.0:1.0:0.0:0.0	.	164	P41225	SOX3_HUMAN	I	164	ENSP00000359567:M164I	.	M	-	3	0	SOX3	139414400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.231000	0.78106	1.638000	0.50547	0.525000	0.51046	ATG		0.622	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			G	139586734	C	G	139586734	3	3	179	1	0	0	0	0	1	0	0	0	14951	710	25	5	852	5	SOX3	23	139586734	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	38975514	139586734	15683826	59	12709											
PNMA5	114824	broad.mit.edu	37	chrX	152159506	152159506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgttggcctggagcacccGcatgattgacagagcaggcc	9	8	13	11	1	0	3	0	2	0	1	0	4	0	4	3	3	2	4	3	3	0	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:152159506G>A	ENST00000439251.1	-	2	1075	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PNMA5_ENST00000535214.1_Missense_Mutation_p.R213W|PNMA5_ENST00000452693.1_Missense_Mutation_p.R213W|PNMA5_ENST00000361887.5_Missense_Mutation_p.R213W	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	213					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCACCCGCATGATTGAC	0.527																																						uc022chn.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(637-639)Cgg>Tgg		Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.							76	71	73					X																	152159506		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159506G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.637C>T	X.37:g.152159506G>A	ENSP00000388850:p.Arg213Trp					PNMA5_uc010ntx.3_Missense_Mutation_p.R213W|PNMA5_uc010ntw.3_Missense_Mutation_p.R213W|PNMA5_uc004fgy.4_Missense_Mutation_p.R213W|PNMA5_uc022chm.1_Missense_Mutation_p.R213W	p.R213W	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN			0	637	-	Acute lymphoblastic leukemia(192;6.56e-05)		213					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.637C>T	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586277	0.46110	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	3.31	0.12	0.14691	.	.	.	.	.	T	0.23572	0.0570	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.15954	-1.0419	9	0.30078	T	0.28	.	1.0492	0.01576	0.1528:0.2187:0.402:0.2266	.	213	Q96PV4	PNMA5_HUMAN	W	213	ENSP00000354834:R213W;ENSP00000445775:R213W;ENSP00000388850:R213W;ENSP00000392342:R213W	ENSP00000354834:R213W	R	-	1	2	PNMA5	151910162	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	-0.167000	0.09940	-0.076000	0.12775	-0.542000	0.04241	CGG		0.527	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		A	152159506	G	A	152159506	3	1	179	1	0	0	0	0	1	0	0	0	12156	1086	38	1	713	1	PNMA5	23	152159506	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	12572772	152159506	3111054	60	12710											
F8	2157	broad.mit.edu	37	chrX	154185438	154185438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattggaaaatccttcaaatGttttacacctacccacaagc	15	11	4	11	0	1	0	1	0	0	0	2	1	2	1	3	1	3	1	3	1	7	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:154185438G>A	ENST00000360256.4	-	11	1746	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	516	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCTTCAAATGTTTTACACCT	0.378																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1546-1548)Cat>Tat		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						107	102	103					X																	154185438		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185438G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1546C>T	X.37:g.154185438G>A	ENSP00000353393:p.His516Tyr						p.H516Y	NM_000132	NP_000123	P00451	FA8_HUMAN			10	1717	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		516			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1546C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871075	0.51695	.	.	ENSG00000185010	ENST00000360256	D	0.99413	-5.86	5.19	4.31	0.51392	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.294665	0.35838	N	0.002952	D	0.98021	0.9348	N	0.03930	-0.32	0.32362	N	0.557047	D	0.71674	0.998	D	0.63488	0.915	D	0.97409	1.0001	10	0.46703	T	0.11	-20.6562	12.2631	0.54661	0.0:0.2591:0.7409:0.0	.	516	P00451	FA8_HUMAN	Y	516	ENSP00000353393:H516Y	ENSP00000353393:H516Y	H	-	1	0	F8	153838632	0.972000	0.33761	0.996000	0.52242	0.933000	0.57130	1.551000	0.36233	2.155000	0.67459	0.600000	0.82982	CAT		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154185438	G	A	154185438	3	1	179	1	0	0	0	0	1	0	0	0	5350	1377	48	3	5601	3	F8	23	154185438	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	2025932	154185438	1085122	61	12711											
UBR4	23352	broad.mit.edu	37	chr1	19504071	19504071	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatccatgttgacgcTcaactcctggatgatctgga	9	11	10	11	1	2	3	1	3	1	0	4	5	4	5	2	2	2	3	2	2	1	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:19504071T>C	ENST00000375254.3	-	19	2548	c.2521A>G	c.(2521-2523)Agc>Ggc	p.S841G	UBR4_ENST00000375217.2_Missense_Mutation_p.S841G|UBR4_ENST00000375267.2_Missense_Mutation_p.S841G|UBR4_ENST00000375226.2_Missense_Mutation_p.S841G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	841					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTTGACGCTCAACTCCTGG	0.507																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2521-2523)Agc>Ggc		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							129	120	123					1																	19504071		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19504071T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2521A>G	1.37:g.19504071T>C	ENSP00000364403:p.Ser841Gly					UBR4_uc001bbm.1_Missense_Mutation_p.S52G	p.S841G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	18	2525	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	841					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2521A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839795	0.51057	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.73	5.73	0.89815	.	0.106709	0.64402	D	0.000006	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.12142	-1.0559	10	0.72032	D	0.01	.	6.169	0.20406	0.144:0.0758:0.0:0.7802	.	841	Q5T4S7	UBR4_HUMAN	G	841;841;841;841;57	ENSP00000364403:S841G;ENSP00000364416:S841G;ENSP00000364365:S841G;ENSP00000364374:S841G	ENSP00000364365:S841G	S	-	1	0	UBR4	19376658	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	4.287000	0.59001	2.190000	0.69967	0.533000	0.62120	AGC		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19504071	T	C	19504071	3	2	180	1	0	0	0	0	1	0	0	0	16901	1551	54	4	13382	4	UBR4	1	19504071	Missense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		19504071	229746550	1	12712											
ZNF643	65243	broad.mit.edu	37	chr1	40919923	40919923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcgaaagtttagagaGtagagtgacccttggatccc	11	8	13	9	1	0	3	0	1	0	2	1	6	1	4	3	2	0	2	3	2	3	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:40919923G>T	ENST00000411995.2	+	3	551	c.176G>T	c.(175-177)aGt>aTt	p.S59I	ZFP69B_ENST00000484445.1_Intron|ZFP69B_ENST00000361584.3_Intron	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	59					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTTTAGAGAGTAGAGTGACC	0.493																																						uc001cfn.2																			0				large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(175-177)aGt>aTt		Homo sapiens zinc finger protein 643 (ZNF643), mRNA.																																				SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40919923G>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.176G>T	1.37:g.40919923G>T	ENSP00000399664:p.Ser59Ile					ZNF643_uc001cfl.2_Intron|ZNF643_uc001cfm.2_5'UTR	p.S59I	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		1	473	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	59					Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.176G>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	G	7.730	0.699028	0.15106	.	.	ENSG00000187801	ENST00000411995	T	0.05382	3.45	3.4	-0.473	0.12112	.	.	.	.	.	T	0.01976	0.0062	N	0.01874	-0.695	0.09310	N	0.999999	B	0.18610	0.029	B	0.11329	0.006	T	0.44081	-0.9351	9	0.41790	T	0.15	.	0.5412	0.00645	0.4413:0.2175:0.1302:0.2111	.	59	Q9UJL9	ZN643_HUMAN	I	59	ENSP00000399664:S59I	ENSP00000399664:S59I	S	+	2	0	ZNF643	40692510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.044000	0.13992	-0.093000	0.12396	-0.350000	0.07774	AGT		0.493	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		T	40919923	G	T	40919923	3	4	180	1	0	0	0	0	1	0	0	0	18056	1029	36	5	182	5	ZNF643	1	40919923	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	21415852	40919923	208330698	2	12713											
HRNR	388697	broad.mit.edu	37	chr1	152192865	152192865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccagagctgtgttggcCgcggcctgaagagtgacggg	8	7	17	9	3	0	5	0	2	0	3	1	5	1	5	3	3	1	2	3	3	1	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152192865C>T	ENST00000368801.2	-	3	1315	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	414					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGGCCGCGGCCTGAA	0.632																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1240-1242)Ggc>Agc		Homo sapiens hornerin (HRNR), mRNA.							88	83	85					1																	152192865		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192865C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1240G>A	1.37:g.152192865C>T	ENSP00000357791:p.Gly414Ser						p.G414S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1316	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		414					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1240G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.462	1.093238	0.20471	.	.	ENSG00000197915	ENST00000368801	T	0.05081	3.5	3.59	-0.74	0.11115	.	.	.	.	.	T	0.00754	0.0025	N	0.19112	0.55	0.09310	N	1	P	0.39181	0.663	B	0.24974	0.057	T	0.45249	-0.9274	9	0.08837	T	0.75	.	7.824	0.29305	0.0:0.6249:0.0:0.3751	.	414	Q86YZ3	HORN_HUMAN	S	414	ENSP00000357791:G414S	ENSP00000357791:G414S	G	-	1	0	HRNR	150459489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-0.404000	0.07610	0.644000	0.83932	GGC		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152192865	C	T	152192865	3	4	180	1	0	0	0	0	1	0	0	0	7359	652	23	2	7316	2	HRNR	1	152192865	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	111272942	152192865	97057756	3	12714											
FLG	2312	broad.mit.edu	37	chr1	152283171	152283171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgaatgtccctcactGttagtgacctgactaccact	8	14	6	13	0	3	3	1	3	2	0	4	3	4	3	3	0	1	1	3	0	3	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152283171G>C	ENST00000368799.1	-	3	4226	c.4191C>G	c.(4189-4191)aaC>aaG	p.N1397K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1397	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTTAGTGACCT	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4189-4191)aaC>aaG		Homo sapiens filaggrin (FLG), mRNA.							330	314	319					1																	152283171		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283171G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4191C>G	1.37:g.152283171G>C	ENSP00000357789:p.Asn1397Lys					AK056431_uc001ezv.3_5'Flank	p.N1397K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4227	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1397			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4191C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.456	0.084465	0.08583	.	.	ENSG00000143631	ENST00000368799	T	0.03524	3.9	4.2	-1.35	0.09114	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45848	-0.9233	9	0.15499	T	0.54	.	1.6489	0.02767	0.1839:0.3024:0.3585:0.1552	.	1397	P20930	FILA_HUMAN	K	1397	ENSP00000357789:N1397K	ENSP00000357789:N1397K	N	-	3	2	FLG	150549795	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.774000	0.04684	-0.335000	0.08451	-1.102000	0.02115	AAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283171	G	C	152283171	3	2	180	1	0	0	0	0	1	0	0	0	5922	1368	48	5	7998	5	FLG	1	152283171	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	90306	152283171	96967450	4	12715											
LCE1C	353133	broad.mit.edu	37	chr1	152777634	152777634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctggccactccccccGccacagcagctggagccccc	6	4	11	20	1	0	0	0	0	0	0	1	2	1	1	7	2	4	3	7	2	0	0	rs551622346		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152777634G>A	ENST00000607093.1	-	1	320	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_ENST00000368768.1_Silent_p.G107G			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662																																						uc021ozi.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(319-321)ggC>ggT		Homo sapiens late cornified envelope 1C (LCE1C), mRNA.																																				SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777634G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.321C>T	1.37:g.152777634G>A						LCE1C_uc001fap.1_Silent_p.G107G	p.G107G	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	321	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		107			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.321C>T	CCDS1026.1																																																																																				0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		A	152777634	G	A	152777634	2	1	180	1	0	0	0	0	0	0	0	1	8661	1074	38	1		1	LCE1C	1	152777634	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	494463	152777634	96472987	5	12716											
OR10R2	343406	broad.mit.edu	37	chr1	158449884	158449884	+	Frame_Shift_Del	DEL	A	A	-																															tcagtgtcatccacctggatAaaagcctccacacaccaatg																										TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:158449884delA	ENST00000368152.1	+	1	217	c.217delA	c.(217-219)aaafs	p.K73fs	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCACCTGGATAAAAGCCTCCA	0.418																																						uc010pik.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(217-219)aaafs		Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.							239	206	217					1																	158449884		2203	4300	6503	SO:0001589	frameshift_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449884delA	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.217delA	1.37:g.158449884delA	ENSP00000357134:p.Lys73fs					AK057554_uc001fso.1_Non-coding_Transcript	p.K73fs	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			0	217	+	all_hematologic(112;0.0378)		73					Q5VWM8|Q6IFS1|Q96R61	Frame_Shift_Del	DEL	ENST00000368152.1	37	c.217delA	CCDS30898.1																																																																																				0.418	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		-	158449884	A	-	158449884	7	5	180	1	0	1	0	1	0	0	0	0	10917	363	13	0	219	0	OR10R2	1	158449884	Frame_Shift_Del	DEL	A	TCGA-26-6173-01A-11D-1845-08	5672250	158449884	90800737	6	12717											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381721	144381721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgaatttggaCgacagccagtgggaggacat	14	6	15	6	1	0	2	0	1	0	1	0	8	0	5	1	3	2	1	1	3	3	1	rs138120208	byFrequency	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:144381721C>T	ENST00000295095.6	+	12	1190	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448																																						uc002tvm.4																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1021-1023)gaC>gaT		Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.		C		0,4406		0,0,2203	89	85	86		1023	4.4	1	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP15	NM_018460.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		341/476	144381721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381721C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1023C>T	2.37:g.144381721C>T						ARHGAP15_uc002tvn.3_Silent_p.D107D	p.D341D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1174	+			341			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1023C>T	CCDS2184.1																																																																																				0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		T	144381721	C	T	144381721	2	4	180	1	0	0	0	0	0	0	0	1	866	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08		144381721	98817652	7	12718											
ZDBF2	57683	broad.mit.edu	37	chr2	207174442	207174442	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgataaaaaaaaacgttcGaagctaaaacatagagatct	20	8	7	6	2	1	2	0	1	1	1	2	4	1	2	0	0	3	3	0	0	9	4	rs140337696	byFrequency	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:207174442G>A	ENST00000374423.3	+	5	5576	c.5190G>A	c.(5188-5190)tcG>tcA	p.S1730S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1730							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAAACGTTCGAAGCTAAAAC	0.458													G|||	5	0.000998403	0.0038	0	5008	,	,		19142	0		0	False		,,,				2504	0					uc002vbp.2																			0		p.R1729C(1)|p.S1730L(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5188-5190)tcG>tcA		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.		G		2,3734		0,2,1866	75	73	74		5190	-1.2	0	2	dbSNP_134	74	0,8214		0,0,4107	no	coding-synonymous	ZDBF2	NM_020923.1		0,2,5973	AA,AG,GG		0.0,0.0535,0.0167		1730/2355	207174442	2,11948	1868	4107	5975	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207174442G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5190G>A	2.37:g.207174442G>A							p.S1730S	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	5440	+			1730					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.5190G>A	CCDS46501.1																																																																																				0.458	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207174442	G	A	207174442	2	1	180	1	0	0	0	0	0	0	0	1	17596	1045	37	2		2	ZDBF2	2	207174442	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	62792721	207174442	36024931	8	12719											
ITGA9	3680	broad.mit.edu	37	chr3	37555330	37555330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgacctgctggtgggggCccccatgttttctgagatca	5	12	12	12	0	3	2	1	2	2	1	3	3	3	2	3	3	1	2	3	3	0	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:37555330C>A	ENST00000264741.5	+	9	1230	c.974C>A	c.(973-975)gCc>gAc	p.A325D	ITGA9_ENST00000422441.1_Missense_Mutation_p.A325D	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	325					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTGGTGGGGGCCCCCATGTTT	0.547																																						uc003chd.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(973-975)gCc>gAc		Homo sapiens integrin, alpha 9 (ITGA9), mRNA.							93	91	92					3																	37555330		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37555330C>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.974C>A	3.37:g.37555330C>A	ENSP00000264741:p.Ala325Asp					ITGA9_uc003chc.3_Missense_Mutation_p.A325D	p.A325D	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	8	1027	+			325					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.974C>A	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146689	0.94603	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.19532	2.14;2.14	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70178	-0.4943	10	0.87932	D	0	.	18.9016	0.92444	0.0:1.0:0.0:0.0	.	325;325	Q13797;E9PDS3	ITA9_HUMAN;.	D	325	ENSP00000397258:A325D;ENSP00000264741:A325D	ENSP00000264741:A325D	A	+	2	0	ITGA9	37530334	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.466000	0.83321	0.467000	0.42956	GCC		0.547	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37555330	C	A	37555330	3	1	180	1	0	0	0	0	1	0	0	0	7883	739	26	5	1008	5	ITGA9	3	37555330	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		37555330	160467100	9	12720											
NBEAL2	23218	broad.mit.edu	37	chr3	47040321	47040321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcagatgacgtgcaggtCacgcagaccatgctgagctt	10	8	12	11	2	2	4	2	2	0	2	2	4	2	4	1	1	4	5	1	1	0	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:47040321C>T	ENST00000450053.3	+	23	3515	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.V1112V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1112					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGTGCAGGTCACGCAGACCA	0.672											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3334-3336)gtC>gtT		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							39	42	41					3																	47040321		2100	4203	6303	SO:0001819	synonymous_variant	23218						binding	g.chr3:47040321C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3336C>T	3.37:g.47040321C>T			OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_uc010hjm.2_Silent_p.V673V	p.V1112V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	22	3515	+		Acute lymphoblastic leukemia(5;0.0534)	1112					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.3336C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.993088	0.02145	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.58	-11.2	0.00127	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.39829	D	0.97294	.	.	.	.	.	.	T	0.42816	-0.9429	4	.	.	.	.	4.3048	0.10942	0.0815:0.2475:0.3782:0.2928	.	.	.	.	L	584	.	.	S	+	2	0	NBEAL2	47015325	0.007000	0.16637	0.000000	0.03702	0.051000	0.14879	-1.885000	0.01620	-1.916000	0.01075	0.555000	0.69702	TCA		0.672	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47040321	C	T	47040321	2	4	180	1	0	0	0	0	0	0	0	1	10189	813	29	3		3	NBEAL2	3	47040321	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	9484991	47040321	150982109	10	12721											
NLGN1	22871	broad.mit.edu	37	chr3	173525621	173525621	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactatcgacttggagtactCggtaagaagagtctctcttt	11	13	9	8	2	2	2	0	0	2	2	5	4	2	3	0	2	2	2	0	2	5	5			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:173525621C>T	ENST00000457714.1	+	4	1074	c.645C>T	c.(643-645)ctC>ctT	p.L215L	NLGN1_ENST00000545397.1_Splice_Site_p.L215L|NLGN1_ENST00000361589.4_Splice_Site_p.L215L|NLGN1_ENST00000401917.3_Splice_Site_p.L255L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	232					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGAGTACTCGGTAAGAAGA	0.383																																						uc021xhm.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.e4+1		Homo sapiens neuroligin 1 (NLGN1), mRNA.							127	120	122					3																	173525621		2203	4300	6503	SO:0001630	splice_region_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525621C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.646+1C>T	3.37:g.173525621C>T						NLGN1_uc003fio.1_Splice_Site_p.G216_splice|NLGN1_uc010hww.1_Splice_Site_p.G256_splice|NLGN1_uc003fip.1_Splice_Site_p.G216_splice	p.G256_splice	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1086	+	Ovarian(172;0.0025)		233					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.766_splice	CCDS3222.1																																																																																				0.383	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	Silent	T	173525621	C	T	173525621	5	4	180	1	0	0	0	0	0	0	1	0	10461	898	31	2	651	2	NLGN1	3	173525621	Splice_Site	SNP	C	TCGA-26-6173-01A-11D-1845-08	126485300	173525621	24496809	11	12722											
CLNK	116449	broad.mit.edu	37	chr4	10522452	10522452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgcttgtcgtgaatgaAgaactataagaaaatatgtt	14	14	10	3	1	0	4	0	2	0	2	1	4	0	4	0	1	2	3	0	1	8	6			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:10522452A>G	ENST00000226951.6	-	15	974	c.735T>C	c.(733-735)tcT>tcC	p.S245S		NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	245	Poly-Ser.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCGTGAATGAAGAACTATAAG	0.363																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.4																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(733-735)tcT>tcC		Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.							115	104	107					4																	10522452		1836	4089	5925	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10522452A>G	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.735T>C	4.37:g.10522452A>G							p.S245S	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			14	872	-			245			Poly-Ser.		Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.735T>C	CCDS47024.1																																																																																				0.363	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		G	10522452	A	G	10522452	2	3	180	1	0	0	0	0	0	0	0	1	3547	59	3	4		4	CLNK	4	10522452	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08		10522452	180631824	12	12723											
SLC30A9	10463	broad.mit.edu	37	chr4	42080309	42080309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattattgatactttaggAgctgaagtagatagacttga	15	14	9	3	0	0	5	0	3	0	2	0	6	0	6	0	1	2	2	0	1	8	9			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:42080309A>G	ENST00000264451.7	+	17	1809	c.1629A>G	c.(1627-1629)ggA>ggG	p.G543G		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	543					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACTTTAGGAGCTGAAGTAG	0.299																																						uc003gwl.3																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1627-1629)ggA>ggG		Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.							50	55	53					4																	42080309		2203	4294	6497	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42080309A>G	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1629A>G	4.37:g.42080309A>G						SLC30A9_uc011byx.2_Silent_p.G303G	p.G543G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN			16	1775	+			543					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.1629A>G	CCDS3465.1																																																																																				0.299	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			G	42080309	A	G	42080309	2	3	180	1	0	0	0	0	0	0	0	1	14562	291	11	4		4	SLC30A9	4	42080309	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08	31557857	42080309	149073967	13	12724											
SMR3B	10879	broad.mit.edu	37	chr4	71255517	71255517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcccacctcctcctccCgcaccctatggtccagggat	8	8	7	18	1	0	1	0	0	0	1	5	2	5	2	7	2	0	1	7	2	2	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:71255517C>T	ENST00000304915.3	+	3	341	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SMR3B_ENST00000504825.1_Silent_p.P64P	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	64	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P64P(1)		large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CTCCTCCTCCCGCACCCTATG	0.602																																						uc011cas.2																			1	Substitution - coding silent(1)	p.P64P(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(190-192)ccC>ccT		Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.							118	110	112					4																	71255517		2203	4300	6503	SO:0001819	synonymous_variant	10879					extracellular region		g.chr4:71255517C>T	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"proline rich 3", "submaxillary gland androgen regulated protein 3 homolog B (mouse)"	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.192C>T	4.37:g.71255517C>T						SMR3A_uc003hfh.3_Silent_p.P64P	p.P64P	NM_006685	NP_006676	Q99954	SMR3A_HUMAN			2	273	+		all_hematologic(202;0.196)	68			Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Silent	SNP	ENST00000304915.3	37	c.192C>T	CCDS3540.1																																																																																				0.602	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685		T	71255517	C	T	71255517	2	4	180	1	0	0	0	0	0	0	0	1	14812	639	23	2		2	SMR3B	4	71255517	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	29175208	71255517	119898759	14	12725											
IRX1	79192	broad.mit.edu	37	chr5	3599499	3599499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgctcaaggcctggcTcaacgagcaccgcaagaatc	12	4	10	15	3	2	1	2	0	0	1	3	2	2	1	2	2	3	5	2	2	4	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:3599499T>G	ENST00000302006.3	+	2	489	c.437T>G	c.(436-438)cTc>cGc	p.L146R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	146					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGGCCTGGCTCAACGAGCAC	0.637																																						uc003jde.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(436-438)cTc>cGc		Homo sapiens iroquois homeobox 1 (IRX1), mRNA.							135	108	117					5																	3599499		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599499T>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.437T>G	5.37:g.3599499T>G	ENSP00000305244:p.Leu146Arg						p.L146R	NM_024337	NP_077313	P78414	IRX1_HUMAN			1	489	+			146					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.437T>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239246	0.79800	.	.	ENSG00000170549	ENST00000302006	D	0.84800	-1.9	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.067139	0.56097	D	0.000022	D	0.94614	0.8264	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96093	0.9063	10	0.87932	D	0	.	14.0584	0.64784	0.0:0.0:0.0:1.0	.	146	P78414	IRX1_HUMAN	R	146	ENSP00000305244:L146R	ENSP00000305244:L146R	L	+	2	0	IRX1	3652499	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.776000	0.85560	1.765000	0.52091	0.533000	0.62120	CTC		0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		G	3599499	T	G	3599499	3	3	180	1	0	0	0	0	1	0	0	0	7843	1551	54	5	443	5	IRX1	5	3599499	Missense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		3599499	177315761	15	12726											
MAP3K1	4214	broad.mit.edu	37	chr5	56176540	56176540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctttgtttttagccGcacaagtcagctgtccatat	7	17	6	11	1	1	0	1	0	0	0	3	0	3	0	3	0	2	3	3	0	3	7			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:56176540G>A	ENST00000399503.3	+	12	2090	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	697					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTTTTAGCCGCACAAGTCAG	0.398																																						uc003jqw.4																			0		p.I696I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2089-2091)cGc>cAc		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							117	103	108					5																	56176540		1946	4150	6096	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56176540G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2090G>A	5.37:g.56176540G>A	ENSP00000382423:p.Arg697His						p.R697H	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	11	2591	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	697						Missense_Mutation	SNP	ENST00000399503.3	37	c.2090G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232591	0.95207	.	.	ENSG00000095015	ENST00000399503	T	0.67523	-0.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81269	-0.1009	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	697	Q13233	M3K1_HUMAN	H	697	ENSP00000382423:R697H	ENSP00000382423:R697H	R	+	2	0	MAP3K1	56212297	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.070000	0.89493	2.941000	0.99782	0.655000	0.94253	CGC		0.398	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		A	56176540	G	A	56176540	3	1	180	1	0	0	0	0	1	0	0	0	9243	1087	38	1	2136	1	MAP3K1	5	56176540	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	52577041	56176540	124738720	16	12727											
CMYA5	202333	broad.mit.edu	37	chr5	79029879	79029879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagccgactttaaaaaggGaggaaatcaagaaataggcc	17	6	10	8	1	1	1	1	0	0	1	2	4	2	3	3	3	1	0	3	3	7	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:79029879G>T	ENST00000446378.2	+	2	5322	c.5291G>T	c.(5290-5292)gGa>gTa	p.G1764V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1764					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTAAAAAGGGAGGAAATCAA	0.413																																						uc003kgc.3																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(5290-5292)gGa>gTa		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							69	66	67					5																	79029879		1834	4075	5909	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029879G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5291G>T	5.37:g.79029879G>T	ENSP00000394770:p.Gly1764Val						p.G1764V	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	5363	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1764					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5291G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	2.513	-0.312451	0.05422	.	.	ENSG00000164309	ENST00000446378	T	0.53857	0.6	4.16	-2.24	0.06909	.	.	.	.	.	T	0.37785	0.1016	N	0.22421	0.69	0.09310	N	0.999998	P	0.48162	0.906	P	0.46585	0.521	T	0.29366	-1.0014	9	0.66056	D	0.02	.	4.6788	0.12725	0.5414:0.1742:0.2844:0.0	.	1764	Q8N3K9	CMYA5_HUMAN	V	1764	ENSP00000394770:G1764V	ENSP00000394770:G1764V	G	+	2	0	CMYA5	79065635	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.108000	0.10857	-0.502000	0.06596	-0.214000	0.12660	GGA		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79029879	G	T	79029879	3	4	180	1	0	0	0	0	1	0	0	0	3590	1174	41	5	5297	5	CMYA5	5	79029879	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	22853339	79029879	101885381	17	12728											
FAM81B	153643	broad.mit.edu	37	chr5	94749823	94749823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaaaagaggaatcgctcGccaggaagttactggaaagc	14	7	12	8	3	0	1	0	0	0	1	3	5	0	4	1	3	2	2	1	3	6	2	rs202064996		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:94749823G>A	ENST00000283357.5	+	4	512	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	156						nucleus (GO:0005634)		p.A156T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGAATCGCTCGCCAGGAAGTT	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		19173	0		0	False		,,,				2504	0					uc003kla.1																			1	Substitution - Missense(1)	p.A156T(2)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(466-468)Gcc>Acc		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							94	95	95					5																	94749823		1977	4164	6141	SO:0001583	missense	153643							g.chr5:94749823G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.466G>A	5.37:g.94749823G>A	ENSP00000283357:p.Ala156Thr					FAM81B_uc010jbe.1_5'UTR	p.A156T	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	512	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	156						Missense_Mutation	SNP	ENST00000283357.5	37	c.466G>A	CCDS43341.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.72	2.620537	0.46736	.	.	ENSG00000153347	ENST00000283357	T	0.21734	1.99	5.53	3.72	0.42706	.	0.057016	0.64402	D	0.000002	T	0.21227	0.0511	M	0.66939	2.045	0.36034	D	0.839605	D	0.56746	0.977	B	0.39617	0.305	T	0.33292	-0.9874	10	0.44086	T	0.13	-9.6175	11.8194	0.52230	0.1296:0.0:0.8704:0.0	.	156	Q96LP2	FA81B_HUMAN	T	156	ENSP00000283357:A156T	ENSP00000283357:A156T	A	+	1	0	FAM81B	94775579	1.000000	0.71417	0.985000	0.45067	0.379000	0.30106	3.689000	0.54706	2.602000	0.87976	0.650000	0.86243	GCC		0.458	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		A	94749823	G	A	94749823	3	1	180	1	0	0	0	0	1	0	0	0	5629	1087	38	1	480	1	FAM81B	5	94749823	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	15719944	94749823	86165437	18	12729											
GABRA6	2559	broad.mit.edu	37	chr5	161128647	161128647	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccactctcgccagcCtttggaggcaccagtaaaat	10	7	7	17	1	1	0	0	0	1	0	2	1	1	1	6	2	1	2	6	2	2	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:161128647C>A	ENST00000274545.5	+	9	1663	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A	GABRA6_ENST00000523217.1_Silent_p.A400A			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	410					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCGCCAGCCTTTGGAGGCA	0.468										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1228-1230)gcC>gcA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						113	106	108					5																	161128647		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128647C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1230C>A	5.37:g.161128647C>A		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Silent_p.A181A	p.A410A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1568	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	410					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1230C>A	CCDS4356.1																																																																																				0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			A	161128647	C	A	161128647	2	1	180	1	0	0	0	0	0	0	0	1	6165	668	24	5		5	GABRA6	5	161128647	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	66378824	161128647	19786613	19	12730											
CAP2	10486	broad.mit.edu	37	chr6	17543298	17543298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctccccacagacaactGtaaaaaactcggcctggtgt	11	11	7	12	1	1	1	0	0	1	1	3	1	1	1	3	2	2	1	3	2	4	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:17543298G>A	ENST00000229922.2	+	11	1665	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y	CAP2_ENST00000465994.1_Missense_Mutation_p.C314Y|CAP2_ENST00000493172.1_Missense_Mutation_p.C118Y|CAP2_ENST00000378990.2_Missense_Mutation_p.C352Y|CAP2_ENST00000489374.1_Missense_Mutation_p.C266Y	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	378	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGACAACTGTAAAAAACTC	0.403																																						uc003ncb.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(1132-1134)tGt>tAt		Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.							176	177	177					6																	17543298		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17543298G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1133G>A	6.37:g.17543298G>A	ENSP00000229922:p.Cys378Tyr					CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.C352Y|CAP2_uc011djb.2_Missense_Mutation_p.C314Y|CAP2_uc011djc.2_Missense_Mutation_p.C266Y|CAP2_uc011djd.2_Missense_Mutation_p.C118Y	p.C378Y	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		10	1376	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	378			C-CAP/cofactor C-like.		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.1133G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	g	18.57	3.651526	0.67472	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.19105	2.24;2.19;2.27;2.17	5.55	5.55	0.83447	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;1.0	D;D;D;D;D	0.97110	0.991;1.0;0.991;0.992;1.0	T	0.62680	-0.6803	10	0.87932	D	0	-13.4214	19.8519	0.96744	0.0:0.0:1.0:0.0	.	118;266;314;352;378	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	Y	378;295;266;352;118;314	ENSP00000229922:C378Y;ENSP00000417705:C266Y;ENSP00000368275:C352Y;ENSP00000418604:C314Y	ENSP00000229922:C378Y	C	+	2	0	CAP2	17651277	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.813000	0.99286	2.774000	0.95407	0.561000	0.74099	TGT		0.403	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			A	17543298	G	A	17543298	3	1	180	1	0	0	0	0	1	0	0	0	2620	1377	48	3	1171	3	CAP2	6	17543298	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		17543298	153571769	20	12731											
ROS1	6098	broad.mit.edu	37	chr6	117638305	117638305	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatggatcccaactgcctaCcgttgccatccgggctttac	7	12	8	14	2	0	0	0	0	0	0	2	1	2	1	5	2	5	2	5	2	4	5			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:117638305C>T	ENST00000368508.3	-	38	6334		c.e38+1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_5'Flank	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAACTGCCTACCGTTGCCATC	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e38+1		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							122	114	117					6																	117638305		2203	4300	6503	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117638305C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6135+1G>A	6.37:g.117638305C>T						ROS1_uc011ebi.1_Splice_Site	p.T2045_splice	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	38	6334	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2045			Protein kinase.		Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	c.6135_splice	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006532	0.35415	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.146	0.81569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117744998	1.000000	0.71417	0.992000	0.48379	0.126000	0.20510	3.897000	0.56273	2.487000	0.83934	0.655000	0.94253	.		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron	T	117638305	C	T	117638305	5	4	180	1	0	0	0	0	0	0	1	0	13531	521	18	3	931	3	ROS1	6	117638305	Splice_Site	SNP	C	TCGA-26-6173-01A-11D-1845-08	100095007	117638305	53476762	21	12732											
DAGLB	221955	broad.mit.edu	37	chr7	6449599	6449599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcatcttcggacctatgaGtattttgctgaattccgctt	8	15	9	9	2	1	2	0	2	1	0	3	4	2	3	2	1	2	4	2	1	3	7	rs34807437		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:6449599G>A	ENST00000297056.6	-	15	2057	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	DAGLB_ENST00000425398.2_Missense_Mutation_p.L501F|DAGLB_ENST00000436575.1_Missense_Mutation_p.L589F	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	630					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGACCTATGAGTATTTTGCTG	0.577																																						uc003sqa.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1888-1890)Ctc>Ttc		Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.							126	124	125					7																	6449599		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449599G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1888C>T	7.37:g.6449599G>A	ENSP00000297056:p.Leu630Phe					DAGLB_uc003spy.3_Missense_Mutation_p.L176F|DAGLB_uc003spz.3_Missense_Mutation_p.L327F|DAGLB_uc011jwt.2_Missense_Mutation_p.L444F|DAGLB_uc011jwu.2_Missense_Mutation_p.L501F|DAGLB_uc003sqb.3_Missense_Mutation_p.L349F|DAGLB_uc003sqc.3_Missense_Mutation_p.L349F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.L589F	p.L630F	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	14	2058	-		Ovarian(82;0.232)	630					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1888C>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.085009	0.76642	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.50277	0.75;0.75;0.75	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.63248	0.2495	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.65815	0.981;0.989;0.962;0.995	P;P;P;P	0.62298	0.735;0.806;0.598;0.9	T	0.63216	-0.6687	10	0.27082	T	0.32	-20.2828	7.5812	0.27965	0.1936:0.0:0.8064:0.0	.	501;444;630;327	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	F	630;501;589	ENSP00000297056:L630F;ENSP00000391171:L501F;ENSP00000404785:L589F	ENSP00000297056:L630F	L	-	1	0	DAGLB	6416124	0.999000	0.42202	0.965000	0.40720	0.984000	0.73092	3.319000	0.51983	2.731000	0.93534	0.650000	0.86243	CTC		0.577	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		A	6449599	G	A	6449599	3	1	180	1	0	0	0	0	1	0	0	0	4227	1029	36	3	134	3	DAGLB	7	6449599	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		6449599	152689064	22	12733											
FBXO24	26261	broad.mit.edu	37	chr7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaggaccccggggggAtggcccaggcctgcgaggag	7	2	17	15	2	0	0	0	0	0	0	0	4	0	3	6	7	1	0	6	7	0	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662																																						uc011kjz.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1657-1659)Atg>Gtg		Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.							48	45	46					7																	100198322		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198322A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1543A>G	7.37:g.100198322A>G	ENSP00000241071:p.Met515Val					FBXO24_uc003uvm.1_Missense_Mutation_p.M515V|FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	p.M553V	NM_012172	NP_036304	O75426	FBX24_HUMAN			9	1725	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		515					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.1657A>G	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	0.269	-0.993871	0.02145	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.12879	2.64;2.64;2.64	4.31	-2.6	0.06190	.	0.714629	0.12064	N	0.502842	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43750	-0.9372	10	0.11794	T	0.64	0.0993	5.8331	0.18590	0.6289:0.0:0.2231:0.148	.	503;553;515;515	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	V	515;503;553	ENSP00000241071:M515V;ENSP00000420239:M503V;ENSP00000416558:M553V	ENSP00000241071:M515V	M	+	1	0	FBXO24	100036258	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.624000	0.05540	-0.835000	0.04234	-0.476000	0.04901	ATG		0.662	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			G	100198322	A	G	100198322	3	3	180	1	0	0	0	0	1	0	0	0	5735	333	12	4	1738	4	FBXO24	7	100198322	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	93748723	100198322	58940341	23	12734											
NOM1	64434	broad.mit.edu	37	chr7	156743012	156743012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagctggagcgttgcctcgGtttgaacaagcgcaaaaaga	14	7	12	8	3	0	2	0	1	0	1	1	3	0	3	1	2	5	4	1	2	5	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:156743012G>A	ENST00000275820.3	+	1	596	c.581G>A	c.(580-582)gGt>gAt	p.G194D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	194	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTTGCCTCGGTTTGAACAAG	0.617																																						uc003wmy.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(580-582)gGt>gAt		Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.							84	96	92					7																	156743012		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743012G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.581G>A	7.37:g.156743012G>A	ENSP00000275820:p.Gly194Asp						p.G194D	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	0	596	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	194			Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.581G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364559	0.82463	.	.	ENSG00000146909	ENST00000275820	T	0.16073	2.37	4.19	4.19	0.49359	.	0.064498	0.64402	D	0.000008	T	0.42426	0.1202	M	0.76328	2.33	0.58432	D	0.999996	D	0.89917	1.0	D	0.72075	0.976	T	0.45366	-0.9266	10	0.59425	D	0.04	-29.3951	16.778	0.85556	0.0:0.0:1.0:0.0	.	194	Q5C9Z4	NOM1_HUMAN	D	194	ENSP00000275820:G194D	ENSP00000275820:G194D	G	+	2	0	NOM1	156435773	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.118000	0.64673	2.154000	0.67381	0.650000	0.86243	GGT		0.617	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		A	156743012	G	A	156743012	3	1	180	1	0	0	0	0	1	0	0	0	10530	1261	44	3	583	3	NOM1	7	156743012	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	56544690	156743012	2395651	24	12735											
CYP11B1	1584	broad.mit.edu	37	chr8	143960555	143960555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgcagcttctccacGtcctccggcagcatcacaca	8	9	7	17	2	2	0	1	0	1	0	5	0	4	0	4	1	3	5	4	1	0	2	rs5284	byFrequency	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr8:143960555G>A	ENST00000292427.4	-	2	320	c.288C>T	c.(286-288)gaC>gaT	p.D96D	CYP11B1_ENST00000517471.1_Silent_p.D96D|CYP11B1_ENST00000377675.3_Silent_p.D141D	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	96					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.D96D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCTTCTCCACGTCCTCCGGCA	0.627									Familial Hyperaldosteronism type I				.|||	2	0.000399361	8e-04	0	5008	,	,		19188	0		0	False		,,,				2504	0.001					uc010mey.3																			1	Substitution - coding silent(1)	p.D96D(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(421-423)gaC>gaT		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Mitotane(DB00648)	G	,	0,4406		0,0,2203	201	148	166		288,288	-2.2	0	8	dbSNP_52	166	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	CYP11B1	NM_000497.3,NM_001026213.1	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	96/504,96/438	143960555	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960555G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.288C>T	8.37:g.143960555G>A						CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.D96D|CYP11B1_uc003yxj.3_Silent_p.D96D	p.D141D	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	430	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		96					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.423C>T	CCDS6392.1																																																																																				0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			A	143960555	G	A	143960555	2	1	180	1	0	0	0	0	0	0	0	1	4145	1136	40	1		1	CYP11B1	8	143960555	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08		143960555	2403467	25	12736											
CACNA1B	774	broad.mit.edu	37	chr9	140809200	140809200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcctcatgtttgccatCattggcctggagttctacat	7	14	8	12	0	3	0	2	0	1	0	4	1	4	1	4	2	2	2	4	2	1	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr9:140809200C>T	ENST00000371372.1	+	5	862	c.717C>T	c.(715-717)atC>atT	p.I239I	CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.I239I|CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277551.2_Silent_p.I239I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.I239I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTTGCCATCATTGGCCTGG	0.567																																						uc004cog.3																			1	Substitution - coding silent(1)	p.I239I(2)	lung(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(715-717)atC>atT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						115	113	113					9																	140809200		2132	4252	6384	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809200C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.717C>T	9.37:g.140809200C>T						CACNA1B_uc022bqn.1_Silent_p.I239I	p.I239I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	4	862	+	all_cancers(76;0.166)		239					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.717C>T	CCDS59522.1																																																																																				0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140809200	C	T	140809200	2	4	180	1	0	0	0	0	0	0	0	1	2539	816	29	3		3	CACNA1B	9	140809200	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08		140809200	404231	26	12737											
DMBT1	1755	broad.mit.edu	37	chr10	124376759	124376759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagacacttggccaacctCtcgtgcatcaacagcaggta	12	8	8	13	1	2	1	1	0	1	1	3	1	2	1	2	2	5	3	2	2	4	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:124376759C>G	ENST00000338354.3	+	37	4593	c.4487C>G	c.(4486-4488)tCt>tGt	p.S1496C	DMBT1_ENST00000368909.3_Missense_Mutation_p.S1496C|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1486C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1486C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S868C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S347C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S868C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1496					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCAACCTCTCGTGCATCA	0.448																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4486-4488)tCt>tGt		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							394	381	385					10																	124376759		1900	4124	6024	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124376759C>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4487C>G	10.37:g.124376759C>G	ENSP00000342210:p.Ser1496Cys					DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc021qaf.1_Missense_Mutation_p.S1496C|DMBT1_uc021qag.1_Missense_Mutation_p.S1486C|DMBT1_uc021qah.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	p.S1496C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			36	4593	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1496					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.4487C>G		.	.	.	.	.	.	.	.	.	.	-	8.112	0.779052	0.16120	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.26373	1.83;1.82;1.74;1.83;1.82;1.74;1.77	1.48	0.506	0.16961	.	.	.	.	.	T	0.28928	0.0718	N	0.19112	0.55	0.09310	N	1	P;D;D;B;P;D	0.71674	0.804;0.998;0.994;0.335;0.574;0.979	B;D;D;B;B;P	0.71414	0.102;0.947;0.973;0.084;0.102;0.827	T	0.12218	-1.0556	9	0.66056	D	0.02	.	5.5618	0.17148	0.0:0.6477:0.3523:0.0	.	347;745;1625;868;1486;1496	F8WEF7;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	1496;1625;1496;1496;1496;1496;868;1486;868;868;1496;1486;868;347	ENSP00000342210:S1496C;ENSP00000343175:S1486C;ENSP00000327747:S868C;ENSP00000357905:S1496C;ENSP00000357951:S1486C;ENSP00000357952:S868C;ENSP00000352593:S347C	ENSP00000331522:S868C	S	+	2	0	DMBT1	124366749	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.284000	0.08422	0.196000	0.20367	0.461000	0.40582	TCT		0.448	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124376759	C	G	124376759	3	3	180	1	0	0	0	0	1	0	0	0	4577	913	32	5	4633	5	DMBT1	10	124376759	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		124376759	11157988	27	12738											
CKAP5	9793	broad.mit.edu	37	chr11	46783673	46783673	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctatttcctttaaggcTtttcctggggttggttggca	6	16	11	8	0	0	0	0	0	0	0	2	0	2	0	2	5	1	5	2	5	2	8			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:46783673T>C	ENST00000529230.1	-	32	4144	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	CKAP5_ENST00000354558.3_Silent_p.K1366K|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.K1366K|CKAP5_ENST00000312055.5_Silent_p.K1366K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1366					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTTAAGGCTTTTCCTGGGG	0.478																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.2																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4096-4098)aaA>aaG		Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.							111	94	99					11																	46783673		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46783673T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4098A>G	11.37:g.46783673T>C						CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.2_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	p.K1366K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			31	4224	-			1366					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.4098A>G	CCDS31477.1																																																																																				0.478	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		C	46783673	T	C	46783673	2	2	180	1	0	0	0	0	0	0	0	1	3445	1606	56	4		4	CKAP5	11	46783673	Silent	SNP	T	TCGA-26-6173-01A-11D-1845-08		46783673	88222843	28	12739											
OR8K3	219473	broad.mit.edu	37	chr11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaacacaatctaacaaCggtgaatgaattcattctta	17	10	6	8	1	3	2	1	2	2	0	3	3	3	3	0	2	4	0	0	2	8	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:56085805C>T	ENST00000312711.1	+	1	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413																																						uc010rjf.2																			0		p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(22-24)aCg>aTg		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							123	113	116					11																	56085805		2201	4295	6496	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085805C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.23C>T	11.37:g.56085805C>T	ENSP00000323555:p.Thr8Met						p.T8M	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	23	+	Esophageal squamous(21;0.00448)		8					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.23C>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846388	0.16963	.	.	ENSG00000181689	ENST00000312711	T	0.19806	2.12	5.36	0.949	0.19566	.	1.375110	0.04605	N	0.399295	T	0.11452	0.0279	N	0.16656	0.425	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30208	-0.9986	10	0.30078	T	0.28	.	0.455	0.00507	0.1757:0.229:0.1823:0.413	.	8	Q8NH51	OR8K3_HUMAN	M	8	ENSP00000323555:T8M	ENSP00000323555:T8M	T	+	2	0	OR8K3	55842381	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-1.038000	0.03553	0.380000	0.24823	-0.321000	0.08615	ACG		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		T	56085805	C	T	56085805	3	4	180	1	0	0	0	0	1	0	0	0	11244	536	19	1	25	1	OR8K3	11	56085805	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	9302132	56085805	78920711	29	12740											
MS4A3	932	broad.mit.edu	37	chr11	59828705	59828705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccccaggcagtgaggcGggaccagaagagctgaatac	12	4	15	10	1	0	4	0	2	0	2	0	5	0	5	3	4	3	3	3	4	4	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:59828705G>A	ENST00000278865.3	+	2	145	c.72G>A	c.(70-72)gcG>gcA	p.A24A	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Silent_p.A24A|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000358152.2_Silent_p.A24A	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	24				A -> T (in Ref. 1; AAA62319). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCAGTGAGGCGGGACCAGAAG	0.493																																						uc001nom.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(70-72)gcG>gcA		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							99	94	96					11																	59828705		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828705G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.72G>A	11.37:g.59828705G>A						MS4A3_uc001non.3_Silent_p.A24A|MS4A3_uc001noo.3_Intron	p.A24A	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			1	200	+		all_epithelial(135;0.245)	24	A -> T (in Ref. 1; AAA62319).				A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.72G>A	CCDS31567.1																																																																																				0.493	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			A	59828705	G	A	59828705	2	1	180	1	0	0	0	0	0	0	0	1	9861	1103	39	2		2	MS4A3	11	59828705	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	3742900	59828705	75177811	30	12741											
SIPA1	6494	broad.mit.edu	37	chr11	65417064	65417064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggccccagtcctgcccaAcaccaccccggacctcctcc	7	5	7	22	1	0	1	0	1	0	0	3	2	3	2	10	2	2	0	10	2	1	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:65417064A>C	ENST00000394224.3	+	11	2854	c.2558A>C	c.(2557-2559)aAc>aCc	p.N853T	SIPA1_ENST00000527525.1_Missense_Mutation_p.N751T|SIPA1_ENST00000394227.3_Missense_Mutation_p.N751T|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.N853T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	853					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTCCTGCCCAACACCACCCCG	0.642																																						uc001ofb.2																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2557-2559)aAc>aCc		Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.							84	85	85					11																	65417064		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417064A>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2558A>C	11.37:g.65417064A>C	ENSP00000377771:p.Asn853Thr					SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	p.N853T	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN			10	2725	+			853					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2558A>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	A	9.928	1.213975	0.22289	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.38	-1.51	0.08664	.	1.443190	0.04653	N	0.407554	T	0.72095	0.3418	N	0.24115	0.695	0.20196	N	0.999925	B;D	0.53885	0.0;0.963	B;P	0.47528	0.002;0.549	T	0.61242	-0.7102	10	0.12103	T	0.63	-12.8261	11.5271	0.50586	0.5879:0.4121:0.0:0.0	.	751;853	F6RY50;Q96FS4	.;SIPA1_HUMAN	T	853;751;853;751	ENSP00000436269:N853T;ENSP00000433686:N751T;ENSP00000377771:N853T;ENSP00000377774:N751T	ENSP00000377771:N853T	N	+	2	0	SIPA1	65173640	0.684000	0.27642	0.993000	0.49108	0.890000	0.51754	0.621000	0.24418	-0.108000	0.12066	-2.292000	0.00266	AAC		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		C	65417064	A	C	65417064	3	2	180	1	0	0	0	0	1	0	0	0	14328	43	2	5	2596	5	SIPA1	11	65417064	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	5588359	65417064	69589452	31	12742											
MMP3	4314	broad.mit.edu	37	chr11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcctgagggatttgcGccaaaagtgcctaaaatata	14	10	9	8	1	0	1	0	1	0	0	1	2	1	2	3	1	3	1	3	1	7	5	rs147533686		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:102709964G>A	ENST00000299855.5	-	7	1202	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	316					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R316C(3)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AGGGATTTGCGCCAAAAGTGC	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		17541	0		0	False		,,,				2504	0					uc001phj.1																			3	Substitution - Missense(3)	p.R316C(6)	ovary(1)|lung(1)|kidney(1)	endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(946-948)Cgc>Tgc		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	84	82		946	5.7	1	11	dbSNP_134	82	0,8598		0,0,4299	no	missense	MMP3	NM_002422.3	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/478	102709964	1,13003	2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709964G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.946C>T	11.37:g.102709964G>A	ENSP00000299855:p.Arg316Cys					DD413629_uc021qpi.1_5'Flank	p.R316C	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	6	1011	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	316			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.946C>T	CCDS8323.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.4	4.285195	0.80803	2.27E-4	0.0	ENSG00000149968	ENST00000299855	T	0.04454	3.62	5.65	5.65	0.86999	Hemopexin/matrixin (2);	0.000000	0.36740	N	0.002424	T	0.37571	0.1008	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54886	-0.8226	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	316	P08254	MMP3_HUMAN	C	316	ENSP00000299855:R316C	ENSP00000299855:R316C	R	-	1	0	MMP3	102215174	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.837000	0.55820	2.941000	0.99782	0.655000	0.94253	CGC		0.403	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		A	102709964	G	A	102709964	3	1	180	1	0	0	0	0	1	0	0	0	9666	1087	38	1	503	1	MMP3	11	102709964	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	37292900	102709964	32296552	32	12743											
MANSC1	54682	broad.mit.edu	37	chr12	12483054	12483054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggattctacccaggaggacGaggcctatcaccaggaacag	13	5	12	11	1	2	0	1	0	1	0	2	5	2	4	3	5	2	0	3	5	3	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr12:12483054G>A	ENST00000535902.1	-	4	1766	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MANSC1_ENST00000396349.3_Silent_p.L367L|MANSC1_ENST00000545735.1_Silent_p.L320L			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	401						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCAGGAGGACGAGGCCTATCA	0.488																																						uc001rai.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(1201-1203)ctC>ctT		Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.							87	87	87					12																	12483054		2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483054G>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1203C>T	12.37:g.12483054G>A						MANSC1_uc010shm.1_Silent_p.L335L|MANSC1_uc001raj.1_Silent_p.L367L	p.L401L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	3	1461	-		Prostate(47;0.0865)	401					Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.1203C>T	CCDS8648.1																																																																																				0.488	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		A	12483054	G	A	12483054	2	1	180	1	0	0	0	0	0	0	0	1	9224	1045	37	2		2	MANSC1	12	12483054	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08		12483054	121368841	33	12744											
C14orf39	317761	broad.mit.edu	37	chr14	60945101	60945101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaacatcacatgttggCttccagctatagaaaaaaat	18	9	6	8	1	1	1	1	0	0	1	2	2	2	1	1	1	2	3	1	1	7	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:60945101C>A	ENST00000321731.3	-	5	399	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	80					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CACATGTTGGCTTCCAGCTAT	0.259																																						uc001xez.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(238-240)aaG>aaT		Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.							58	57	57					14																	60945101		2201	4294	6495	SO:0001583	missense	317761							g.chr14:60945101C>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.240G>T	14.37:g.60945101C>A	ENSP00000324920:p.Lys80Asn					C14orf39_uc010apo.3_Intron	p.K80N	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	4	350	-			80					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.240G>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933223	0.34096	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.52295	1.44;0.67	5.56	2.74	0.32292	.	0.150706	0.46758	D	0.000264	T	0.60038	0.2238	M	0.67953	2.075	0.39060	D	0.960502	D	0.76494	0.999	D	0.68943	0.961	T	0.60722	-0.7207	10	0.72032	D	0.01	-7.8812	6.7986	0.23738	0.1434:0.7023:0.0:0.1542	.	80	Q8N1H7	S6OS1_HUMAN	N	80;51;80	ENSP00000324920:K80N;ENSP00000451665:K51N	ENSP00000324920:K80N	K	-	3	2	C14orf39	60014854	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.140000	0.31516	0.386000	0.24997	-0.142000	0.14014	AAG		0.259	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		A	60945101	C	A	60945101	3	1	180	1	0	0	0	0	1	0	0	0	1772	796	28	5	1579	5	C14orf39	14	60945101	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		60945101	46404439	34	12745											
ZFP36L1	677	broad.mit.edu	37	chr14	69256954	69256954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgacctggccgcccccggGctgcttctgggtgggcagca	3	8	16	14	2	1	1	0	1	1	0	1	1	1	1	4	4	2	5	4	4	0	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:69256954G>A	ENST00000439696.2	-	2	614	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P105S|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	105					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGCCCCCGGGCTGCTTCTGG	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021rve.1																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(520-522)Ccc>Tcc		Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.							33	38	36					14																	69256954		2196	4292	6488	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256954G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.313C>T	14.37:g.69256954G>A	ENSP00000388402:p.Pro105Ser		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.2_Missense_Mutation_p.P105S|ZFP36L1_uc001xkh.2_Missense_Mutation_p.P105S	p.P174S	NM_001244701	NP_001231630	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	614	-			105					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.520C>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541438	0.45280	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022;ENST00000553375	T;T	0.34275	1.37;1.37	5.22	4.27	0.50696	Tis11B-like protein, N-terminal (1);	0.151547	0.43919	D	0.000503	T	0.28797	0.0714	L	0.36672	1.1	0.80722	D	1	B	0.21452	0.056	B	0.22386	0.039	T	0.05971	-1.0853	10	0.30854	T	0.27	-16.614	12.9232	0.58245	0.0:0.0:0.8382:0.1618	.	105	Q07352	TISB_HUMAN	S	105;105;105;111;83;174	ENSP00000388402:P105S;ENSP00000337386:P105S	ENSP00000337386:P105S	P	-	1	0	ZFP36L1	68326707	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.601000	0.61090	2.423000	0.82170	0.585000	0.79938	CCC		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			A	69256954	G	A	69256954	3	1	180	1	0	0	0	0	1	0	0	0	17643	1203	42	3	707	3	ZFP36L1	14	69256954	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	8311853	69256954	38092586	35	12746											
ACAN	176	broad.mit.edu	37	chr15	89386651	89386651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagccaatgagtgccggCggctgggtgcccggctggcc	6	5	17	13	3	0	1	0	1	0	0	0	1	0	1	4	5	4	3	4	5	2	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr15:89386651C>T	ENST00000561243.1	+	5	823	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ACAN_ENST00000559004.1_Missense_Mutation_p.R275W|ACAN_ENST00000558207.1_Missense_Mutation_p.R275W|ACAN_ENST00000352105.7_Missense_Mutation_p.R275W|ACAN_ENST00000439576.2_Missense_Mutation_p.R275W			P16112	PGCA_HUMAN	aggrecan	275	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.		R -> Q (in dbSNP:rs34949187).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGTGCCGGCGGCTGGGTGC	0.642																																						uc010upo.1																			0		p.R274Q(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(823-825)Cgg>Tgg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							17	20	19					15																	89386651		1929	4139	6068	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386651C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.823C>T	15.37:g.89386651C>T	ENSP00000453342:p.Arg275Trp					ACAN_uc002bmx.3_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_Non-coding_Transcript	p.R275W	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		5	1197	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		275					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.823C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983345	0.53827	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09630	2.96;2.96	5.56	2.5	0.30297	.	0.000000	0.30593	N	0.009286	T	0.29817	0.0745	M	0.67397	2.05	0.31534	N	0.660868	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.987;0.987;0.873	T	0.33523	-0.9865	10	0.72032	D	0.01	-18.6464	14.3885	0.66963	0.6642:0.3358:0.0:0.0	.	275;275;275	E7ENV9;E7EX88;Q6PID9	.;.;.	W	275	ENSP00000387356:R275W;ENSP00000341615:R275W	ENSP00000268134:R275W	R	+	1	2	ACAN	87187655	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	2.086000	0.41643	0.245000	0.21373	0.650000	0.86243	CGG		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89386651	C	T	89386651	3	4	180	1	0	0	0	0	1	0	0	0	117	759	27	1	841	1	ACAN	15	89386651	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		89386651	13144741	36	12747											
AMDHD2	752014	broad.mit.edu	37	chr16	2580611	2580611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcacaggaggtacgCgcctggctctgccactgttc	5	9	13	14	2	1	0	0	0	1	0	3	1	2	1	3	4	2	4	3	4	1	2	rs202055274		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:2580611C>T	ENST00000567119.1	-	1	798	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CEMP1_ENST00000565480.1_Intron|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Missense_Mutation_p.R155H|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R546C	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	155						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGGAGGTACGCGCCTGGCTCT	0.567																																						uc010uwc.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(1636-1638)Cgc>Tgc		Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.		C	HIS/ARG,CYS/ARG	0,4102		0,0,2051	98	104	102		464,1636	-3.5	0	16		102	1,8379		0,1,4189	yes	missense,missense	AMDHD2,CEMP1	NM_001048212.3,NM_001145815.1	29,180	0,1,6240	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	155/248,546/595	2580611	1,12481	2051	4190	6241	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2580611C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.464G>A	16.37:g.2580611C>T	ENSP00000457380:p.Arg155His					AMDHD2_uc010uwd.2_Missense_Mutation_p.R310C|CEMP1_uc002cqr.3_Missense_Mutation_p.R155H	p.R546C	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN			10	1733	+			0					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.1636C>T	CCDS42108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.950|0.950	-0.706711|-0.706711	0.03230|0.03230	0.0|0.0	1.19E-4|1.19E-4	ENSG00000162066|ENSG00000205923	ENST00000413459|ENST00000382350	.|T	.|0.56275	.|0.47	1.76|1.76	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.36276|0.36276	0.0961|0.0961	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.10965|0.10965	-1.0607|-1.0607	7|8	0.87932|0.87932	D|D	0|0	.|.	2.5923|2.5923	0.04846|0.04846	0.1434:0.4989:0.1442:0.2135|0.1434:0.4989:0.1442:0.2135	.|.	546|155	Q9Y303-3|Q6PRD7	.|CEMP1_HUMAN	C|H	546|155	.|ENSP00000371787:R155H	ENSP00000391596:R546C|ENSP00000371787:R155H	R|R	+|-	1|2	0|0	AMDHD2|CEMP1	2520612|2520612	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.597000|-1.597000	0.02089|0.02089	-3.240000|-3.240000	0.00207|0.00207	-1.134000|-1.134000	0.01955|0.01955	CGC|CGC		0.567	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		T	2580611	C	T	2580611	3	4	180	1	0	0	0	0	1	0	0	0	568	768	27	1	1716	1	AMDHD2	16	2580611	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		2580611	87774142	37	12748											
ATXN2L	11273	broad.mit.edu	37	chr16	28847275	28847275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtccaaactggaatcAcagcagccccgccccctcac	10	5	6	20	1	2	0	2	0	0	0	3	1	3	1	6	1	3	1	6	1	2	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:28847275A>T	ENST00000336783.4	+	22	3084	c.2917A>T	c.(2917-2919)Aca>Tca	p.T973S	ATXN2L_ENST00000395547.2_Missense_Mutation_p.T973S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T979S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T973S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T973S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T973S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T973S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	973					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACTGGAATCACAGCAGCCCC	0.622																																						uc002dqy.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2917-2919)Aca>Tca		Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.							38	48	44					16																	28847275		2197	4289	6486	SO:0001583	missense	11273					membrane		g.chr16:28847275A>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2917A>T	16.37:g.28847275A>T	ENSP00000338718:p.Thr973Ser					NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T973S|ATXN2L_uc002dra.3_Missense_Mutation_p.T973S|ATXN2L_uc002drb.3_Missense_Mutation_p.T973S|ATXN2L_uc002drc.3_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T979S|ATXN2L_uc002dre.3_Missense_Mutation_p.T973S|ATXN2L_uc002drf.3_Missense_Mutation_p.T382S|ATXN2L_uc002drg.3_Missense_Mutation_p.T256S	p.T973S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN			21	3084	+			973					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2917A>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513782	0.27123	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.42131	0.99;0.98;0.99;0.99;0.98	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.17959	0.0431	N	0.04880	-0.145	0.38417	D	0.946087	B;B;B;B;B;B	0.33807	0.131;0.131;0.206;0.206;0.131;0.426	B;B;B;B;B;B	0.28011	0.039;0.039;0.085;0.085;0.039;0.085	T	0.21348	-1.0248	10	0.08599	T	0.76	-9.7617	10.1427	0.42744	0.922:0.0:0.078:0.0	.	973;973;973;973;973;973	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	S	973	ENSP00000341459:T973S;ENSP00000378917:T973S;ENSP00000338718:T973S;ENSP00000372133:T973S;ENSP00000315650:T973S	ENSP00000315650:T973S	T	+	1	0	ATXN2L	28754776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.027000	0.41078	2.222000	0.72286	0.383000	0.25322	ACA		0.622	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		T	28847275	A	T	28847275	3	4	180	1	0	0	0	0	1	0	0	0	1212	159	6	5	3003	5	ATXN2L	16	28847275	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	26266664	28847275	61507478	38	12749											
MYH8	4626	broad.mit.edu	37	chr17	10304645	10304645	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtcaggatgttgacttTgtcctcctctgcctgcaggt	4	16	11	10	0	2	1	1	1	1	0	4	2	4	2	3	3	2	2	3	3	0	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:10304645T>A	ENST00000403437.2	-	24	3149	c.3055A>T	c.(3055-3057)Aaa>Taa	p.K1019*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1019					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTGACTTTGTCCTCCTCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3055-3057)Aaa>Taa		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							165	164	164					17																	10304645		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304645T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3055A>T	17.37:g.10304645T>A	ENSP00000384330:p.Lys1019*					AK097500_uc002gml.1_Intron	p.K1019*	NM_002472	NP_002463	P13535	MYH8_HUMAN			23	3150	-			1019					Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.3055A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	41	8.786312	0.98954	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.65	5.65	0.86999	.	0.000000	0.44285	U	0.000464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	.	.	.	X	1019	.	ENSP00000252173:K1019X	K	-	1	0	MYH8	10245370	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.585000	0.82584	2.371000	0.80710	0.533000	0.62120	AAA		0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10304645	T	A	10304645	4	1	180	1	0	0	0	0	0	1	0	0	10041	1821	63	5	2826	5	MYH8	17	10304645	Nonsense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		10304645	70890565	39	12750											
NLE1	54475	broad.mit.edu	37	chr17	33463392	33463392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactcacaggatccttggAggtcttggggattaactgag	10	11	12	8	0	3	1	2	1	1	0	4	4	4	4	1	5	1	0	1	5	1	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:33463392A>G	ENST00000442241.4	-	8	992	c.953T>C	c.(952-954)cTc>cCc	p.L318P	NLE1_ENST00000586869.1_Missense_Mutation_p.L26P|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Missense_Mutation_p.L276P	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	318					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGATCCTTGGAGGTCTTGGGG	0.567																																						uc002hiy.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(952-954)cTc>cCc		Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.							186	205	198					17																	33463392		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33463392A>G		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.953T>C	17.37:g.33463392A>G	ENSP00000413572:p.Leu318Pro					NLE1_uc002hiz.1_Missense_Mutation_p.L26P	p.L318P	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			7	981	-		Ovarian(249;0.17)	318					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.953T>C	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.95|10.95	1.495637|1.495637	0.26774|0.26774	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697|ENST00000436188	T|.	0.59906|.	0.23|.	5.32|5.32	5.32|5.32	0.75619|0.75619	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.511596|.	0.21947|.	N|.	0.066785|.	T|T	0.56645|0.56645	0.1999|0.1999	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P;P|.	0.48764|.	0.915;0.602|.	P;B|.	0.48114|.	0.567;0.378|.	T|T	0.53493|0.53493	-0.8431|-0.8431	10|5	0.27082|.	T|.	0.32|.	-18.2814|-18.2814	13.2682|13.2682	0.60146|0.60146	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	294;318|.	B4E074;Q9NVX2|.	.;NLE1_HUMAN|.	P|P	318;26;294|98	ENSP00000413572:L318P|.	ENSP00000354075:L26P|.	L|S	-|-	2|1	0|0	NLE1|NLE1	30487505|30487505	0.997000|0.997000	0.39634|0.39634	0.976000|0.976000	0.42696|0.42696	0.887000|0.887000	0.51463|0.51463	8.416000|8.416000	0.90244|0.90244	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.567	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		G	33463392	A	G	33463392	3	3	180	1	0	0	0	0	1	0	0	0	10460	304	11	4	528	4	NLE1	17	33463392	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	23158747	33463392	47731818	40	12751											
EPX	8288	broad.mit.edu	37	chr17	56270743	56270743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagcatcaagcagcGgcttcgcagcggttcagcca	8	6	13	14	3	2	0	2	0	0	0	3	0	2	0	2	3	5	6	2	3	1	2	rs200653613		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:56270743G>A	ENST00000225371.5	+	3	292	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	61					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ATCAAGCAGCGGCTTCGCAGC	0.612																																						uc002ivq.3																			0		p.R61W(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(181-183)cGg>cAg		Homo sapiens eosinophil peroxidase (EPX), mRNA.		G	GLN/ARG	0,4406		0,0,2203	96	96	96		182	1.8	0.1	17		96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPX	NM_000502.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	61/716	56270743	1,13005	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270743G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.182G>A	17.37:g.56270743G>A	ENSP00000225371:p.Arg61Gln						p.R61Q	NM_000502	NP_000493	P11678	PERE_HUMAN			2	301	+			61					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.182G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835656	0.32421	0.0	1.16E-4	ENSG00000121053	ENST00000225371	T	0.71341	-0.56	4.86	1.77	0.24775	.	0.741186	0.13513	N	0.382336	T	0.70518	0.3233	M	0.80982	2.52	0.24662	N	0.993465	P	0.51537	0.946	B	0.43274	0.414	T	0.62001	-0.6946	10	0.54805	T	0.06	-3.7069	8.9914	0.36026	0.2346:0.0:0.7654:0.0	.	61	P11678	PERE_HUMAN	Q	61	ENSP00000225371:R61Q	ENSP00000225371:R61Q	R	+	2	0	EPX	53625742	0.039000	0.19947	0.091000	0.20842	0.204000	0.24138	1.535000	0.36061	0.205000	0.20568	0.549000	0.68633	CGG		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		A	56270743	G	A	56270743	3	1	180	1	0	0	0	0	1	0	0	0	5200	1116	39	2	192	2	EPX	17	56270743	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	22807351	56270743	24924467	41	12752											
XAB2	56949	broad.mit.edu	37	chr19	7687257	7687257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgctcctccaggaacAtggcatagttgatgacgatc	10	11	10	10	1	0	2	0	2	0	0	3	4	2	3	2	2	2	3	2	2	2	3	rs374151176		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:7687257A>G	ENST00000358368.4	-	12	1614	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T	XAB2_ENST00000534844.1_Missense_Mutation_p.M523T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	526					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGGAACATGGCATAGTT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1576-1578)aTg>aCg	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens XPA binding protein 2 (XAB2), mRNA.		A	THR/MET	0,4406		0,0,2203	209	176	187		1577	4.7	1	19		187	1,8599	1.2+/-3.3	0,1,4299	no	missense	XAB2	NM_020196.2	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	526/856	7687257	1,13005	2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687257A>G	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1577T>C	19.37:g.7687257A>G	ENSP00000351137:p.Met526Thr						p.M526T	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			11	1603	-			526					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1577T>C	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699612	0.30142	0.0	1.16E-4	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03607	3.87;3.87	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.101878	0.64402	D	0.000005	T	0.03651	0.0104	L	0.31664	0.95	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.49224	-0.8962	10	0.22706	T	0.39	-28.2639	13.087	0.59146	1.0:0.0:0.0:0.0	.	526	Q9HCS7	SYF1_HUMAN	T	526;523	ENSP00000351137:M526T;ENSP00000438225:M523T	ENSP00000351137:M526T	M	-	2	0	XAB2	7593257	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.969000	0.93411	1.742000	0.51746	0.379000	0.24179	ATG		0.607	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		G	7687257	A	G	7687257	3	3	180	1	0	0	0	0	1	0	0	0	17415	217	8	4	1022	4	XAB2	19	7687257	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08		7687257	51441726	42	12753											
NDUFA3	4696	broad.mit.edu	37	chr19	54609317	54609317	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgccctacaactacccAggtgagtgggggccaggcag	9	4	14	14	1	0	1	0	1	0	0	0	1	0	1	4	4	3	1	4	4	3	2	rs368243962		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:54609317A>C	ENST00000485876.1	+	3	204	c.162A>C	c.(160-162)ccA>ccC	p.P54P	NDUFA3_ENST00000391762.1_Splice_Site_p.P54P|NDUFA3_ENST00000391764.3_Splice_Site_p.P54P|NDUFA3_ENST00000303553.5_Splice_Site_p.P11P|NDUFA3_ENST00000471292.1_Silent_p.P54P|NDUFA3_ENST00000391763.3_Splice_Site_p.S58R			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	54					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ACAACTACCCAGGTGAGTGGG	0.577																																						uc002qde.3																			0				breast(1)|endometrium(1)	2						c.e3+1		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	NADH(DB00157)						93	80	85					19																	54609317		2203	4300	6503	SO:0001630	splice_region_variant	4696				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:54609317A>C	AF044955	CCDS12877.1	19q13.42	2011-07-04	2002-08-29		ENSG00000170906	ENSG00000170906		"Mitochondrial respiratory chain complex / Complex I"	7686	protein-coding gene	gene with protein product	"complex I B9 subunit"	603832	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)"			9878551	Standard	NM_004542		Approved	B9	uc002qde.3	O95167	OTTHUMG00000064972	ENST00000485876.1:c.163+1A>C	19.37:g.54609317A>C						NDUFA3_uc002qdf.3_Splice_Site	p.V55_splice	NM_004542	NP_004533	O95167	NDUA3_HUMAN			3	190	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		55						Silent	SNP	ENST00000485876.1	37	c.163_splice	CCDS12877.1	.	.	.	.	.	.	.	.	.	.	a	11.32	1.605294	0.28623	.	.	ENSG00000170906	ENST00000391763;ENST00000420296	.	.	.	4.12	3.02	0.34903	.	.	.	.	.	T	0.64560	0.2609	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67956	-0.5536	5	0.87932	D	0	-7.5264	8.8703	0.35311	0.8126:0.1874:0.0:0.0	.	.	.	.	R	58;16	.	ENSP00000375643:S58R	S	+	1	0	NDUFA3	59301129	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.448000	0.35112	1.883000	0.54544	0.514000	0.50259	AGT		0.577	NDUFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139509.5	NM_004542	Silent	C	54609317	A	C	54609317	5	2	180	1	0	0	0	0	0	0	1	0	10265	202	7	5	172	5	NDUFA3	19	54609317	Splice_Site	SNP	A	TCGA-26-6173-01A-11D-1845-08	46922060	54609317	4519666	43	12754											
ZNF497	162968	broad.mit.edu	37	chr19	58868065	58868065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaggagctgcgagctctCgcggaaagcctttccgcact	7	8	12	14	4	1	0	0	0	1	0	3	3	2	2	2	2	5	4	2	2	1	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:58868065C>T	ENST00000311044.3	-	3	1125	c.937G>A	c.(937-939)Gag>Aag	p.E313K	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.E313K|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGAGCTCTCGCGGAAAGCC	0.701																																						uc002qsh.2																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(937-939)Gag>Aag		Homo sapiens zinc finger protein 497 (ZNF497), mRNA.							7	8	8					19																	58868065		2171	4268	6439	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868065C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.937G>A	19.37:g.58868065C>T	ENSP00000311183:p.Glu313Lys					A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.E313K|ZNF497_uc021vcw.1_Missense_Mutation_p.E313K|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	p.E313K	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	2	1220	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	313					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.937G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387790	0.42308	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.07327	3.2;3.2	1.12	-0.225	0.13111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.02412	-0.56	0.09310	N	1	B	0.30793	0.295	B	0.30855	0.121	T	0.43653	-0.9378	9	0.30854	T	0.27	.	3.4465	0.07482	0.0:0.5344:0.2743:0.1913	.	313	Q6ZNH5	ZN497_HUMAN	K	313;313;102	ENSP00000311183:E313K;ENSP00000402815:E313K	ENSP00000311183:E313K	E	-	1	0	ZNF497	63559877	0.000000	0.05858	0.009000	0.14445	0.079000	0.17450	-7.600000	0.00033	-0.019000	0.14055	0.205000	0.17691	GAG		0.701	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		T	58868065	C	T	58868065	3	4	180	1	0	0	0	0	1	0	0	0	17943	893	31	2	563	2	ZNF497	19	58868065	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	4258748	58868065	260918	44	12755											
NTSR1	4923	broad.mit.edu	37	chr20	61340986	61340986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgacgccggctgccgcGgctactacttcctgcgcgac	4	7	13	17	8	0	0	0	0	0	0	2	2	1	0	3	3	4	2	3	3	2	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr20:61340986G>A	ENST00000370501.3	+	1	798	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	143					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCTGCCGCGGCTACTACTT	0.677																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(427-429)Ggc>Agc		Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.							42	46	45					20																	61340986		2200	4294	6494	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340986G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.427G>A	20.37:g.61340986G>A	ENSP00000359532:p.Gly143Ser						p.G143S	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		0	798	+	Breast(26;3.65e-08)		143					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.427G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277675	0.95459	.	.	ENSG00000101188	ENST00000370501	T	0.36520	1.25	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.42529	1.33	0.58432	D	0.999994	D	0.63880	0.993	P	0.56343	0.796	T	0.36311	-0.9753	10	0.59425	D	0.04	-43.9467	11.7321	0.51744	0.0825:0.0:0.9175:0.0	.	143	P30989	NTR1_HUMAN	S	143	ENSP00000359532:G143S	ENSP00000359532:G143S	G	+	1	0	NTSR1	60811431	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.619000	0.74219	2.404000	0.81709	0.561000	0.74099	GGC		0.677	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			A	61340986	G	A	61340986	3	1	180	1	0	0	0	0	1	0	0	0	10710	1116	39	2	429	2	NTSR1	20	61340986	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		61340986	1684534	45	12756											
EP300	2033	broad.mit.edu	37	chr22	41556657	41556657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgacaggtatcatttctGtgagaagtgtttcaatgaga	11	13	11	6	1	3	2	2	2	1	2	3	5	3	2	1	1	1	2	1	1	3	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr22:41556657G>A	ENST00000263253.7	+	20	4821	c.3602G>A	c.(3601-3603)tGt>tAt	p.C1201Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1201					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCATTTCTGTGAGAAGTGT	0.488			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													uc003azl.4				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		1	Deletion - In frame(1)	p.Y1198_L1243del(2)	breast(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(3601-3603)tGt>tAt		Homo sapiens E1A binding protein p300 (EP300), mRNA.							144	115	125					22																	41556657		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41556657G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3602G>A	22.37:g.41556657G>A	ENSP00000263253:p.Cys1201Tyr						p.C1201Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			19	3997	+			1201					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3602G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716801	0.68844	.	.	ENSG00000100393	ENST00000263253	D	0.94828	-3.53	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000057	D	0.98012	0.9345	M	0.92604	3.325	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	D	0.98771	1.0728	10	0.87932	D	0	-5.004	19.4278	0.94751	0.0:0.0:1.0:0.0	.	1201	Q09472	EP300_HUMAN	Y	1201	ENSP00000263253:C1201Y	ENSP00000263253:C1201Y	C	+	2	0	EP300	39886603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.595000	0.87683	0.557000	0.71058	TGT		0.488	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41556657	G	A	41556657	3	1	180	1	0	0	0	0	1	0	0	0	5148	1377	48	3	3680	3	EP300	22	41556657	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		41556657	9747909	46	12757											
EPHB2	2048	broad.mit.edu	37	chr1	23111326	23111326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgtccctcatcgccGtgcgtgtcttctaccgcaag	5	11	10	15	4	3	0	1	0	2	0	5	0	4	0	3	0	3	3	3	0	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:23111326G>A	ENST00000400191.3	+	3	586	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	EPHB2_ENST00000374630.3_Missense_Mutation_p.V190M|EPHB2_ENST00000374627.1_Missense_Mutation_p.V184M|EPHB2_ENST00000544305.1_Missense_Mutation_p.V190M|EPHB2_ENST00000374632.3_Missense_Mutation_p.V190M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	190	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTCATCGCCGTGCGTGTCTT	0.622																																						uc009vqj.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(568-570)Gtg>Atg		Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.							42	36	38					1																	23111326		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111326G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.568G>A	1.37:g.23111326G>A	ENSP00000383053:p.Val190Met					EPHB2_uc001bge.3_Missense_Mutation_p.V190M|EPHB2_uc001bgf.3_Missense_Mutation_p.V190M|EPHB2_uc010odu.2_Missense_Mutation_p.V190M	p.V190M	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	2	713	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	190			Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.568G>A		.	.	.	.	.	.	.	.	.	.	G	24.4	4.522196	0.85600	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14	5.28	5.28	0.74379	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.89163	3.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.31861	-0.9928	10	0.87932	D	0	.	17.6478	0.88153	0.0:0.0:1.0:0.0	.	190;190;208;190	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	190;190;190;190;190;184	ENSP00000444174:V190M;ENSP00000363761:V190M;ENSP00000383053:V190M;ENSP00000363763:V190M;ENSP00000363758:V184M	ENSP00000363755:V190M	V	+	1	0	EPHB2	22983913	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	9.657000	0.98554	2.750000	0.94351	0.585000	0.79938	GTG		0.622	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23111326	G	A	23111326	3	1	181	1	0	0	0	0	1	0	0	0	5175	1145	40	1	578	1	EPHB2	1	23111326	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		23111326	226139295	1	12758											
PTPRU	10076	broad.mit.edu	37	chr1	29606627	29606627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgtgctgctgaggccGgcacagggccgcggtgcgcc	5	5	16	15	5	1	1	1	1	0	0	1	1	1	1	4	4	3	3	4	4	0	0	rs201241001	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:29606627G>A	ENST00000345512.3	+	11	1971	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PTPRU_ENST00000323874.8_Silent_p.P614P|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.P614P|PTPRU_ENST00000460170.2_Silent_p.P614P|PTPRU_ENST00000356870.3_Silent_p.P614P|PTPRU_ENST00000373779.3_Silent_p.P614P	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	614	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGAGGCCGGCACAGGGCC	0.652													G|||	2	0.000399361	0	0	5008	,	,		18027	0		0.002	False		,,,				2504	0					uc001bru.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1840-1842)ccG>ccA		Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.		G	,,,	0,4406		0,0,2203	49	52	51		1842,1842,1842,1842	-3.5	1	1		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	614/1434,614/1447,614/1441,614/1437	29606627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29606627G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1842G>A	1.37:g.29606627G>A						PTPRU_uc009vtq.3_Silent_p.P614P|PTPRU_uc009vtr.3_Silent_p.P614P|PTPRU_uc001brw.3_Silent_p.P614P	p.P614P	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	10	1971	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	614			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.1842G>A	CCDS334.1																																																																																				0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			A	29606627	G	A	29606627	2	1	181	1	0	0	0	0	0	0	0	1	12813	1103	39	2		2	PTPRU	1	29606627	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	6495301	29606627	219643994	2	12759											
RPL5	6125	broad.mit.edu	37	chr1	93298990	93298990	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggcctactttaagagataCcaagtgaaatttagaagacg	17	9	9	6	1	0	4	0	1	0	3	0	5	0	4	2	1	2	0	2	1	8	6	rs148673599	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:93298990C>A	ENST00000370321.3	+	2	138	c.48C>A	c.(46-48)taC>taA	p.Y16*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTAAGAGATACCAAGTGAAAT	0.318																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9	GRCh37	CM086905	RPL5	M	rs148673599	c.(46-48)taC>taA		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							95	103	100					1																	93298990		2203	4300	6503	SO:0001587	stop_gained	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93298990C>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.48C>A	1.37:g.93298990C>A	ENSP00000359345:p.Tyr16*					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	p.Y16*	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	1	126	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	16					Q32LZ3|Q53HH6|Q9H3F4	Nonsense_Mutation	SNP	ENST00000370321.3	37	c.48C>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118785	0.94385	.	.	ENSG00000122406	ENST00000370321	.	.	.	4.69	2.78	0.32641	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9744	0.47456	0.0:0.8584:0.0:0.1416	.	.	.	.	X	16	.	ENSP00000359345:Y16X	Y	+	3	2	RPL5	93071578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.314000	0.51943	2.141000	0.66446	0.561000	0.74099	TAC		0.318	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		A	93298990	C	A	93298990	4	1	181	1	0	0	0	0	0	1	0	0	13597	518	18	5	54	5	RPL5	1	93298990	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	63692363	93298990	155951631	3	12760											
SYCP1	6847	broad.mit.edu	37	chr1	115401212	115401212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcaaaactgtataaggaGgctgaaaagataaaaaaatg	21	9	8	3	0	1	2	1	1	0	1	1	3	1	3	0	2	1	2	0	2	11	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:115401212G>A	ENST00000369522.3	+	6	576	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYCP1_ENST00000369518.1_Silent_p.E112E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	112					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTATAAGGAGGCTGAAAAGA	0.303																																						uc001efr.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(334-336)gaG>gaA		Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.							73	77	76					1																	115401212		2203	4300	6503	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401212G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.336G>A	1.37:g.115401212G>A						SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.E112E|SYCP1_uc009wgw.3_Silent_p.E112E	p.E112E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	545	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	112					O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.336G>A	CCDS879.1																																																																																				0.303	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		A	115401212	G	A	115401212	2	1	181	1	0	0	0	0	0	0	0	1	15428	991	35	3		3	SYCP1	1	115401212	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	22102222	115401212	133849409	4	12761											
SPAG17	200162	broad.mit.edu	37	chr1	118524021	118524021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaccttatgtggcttgAaatctagaaaacccaaaatg	16	10	7	8	0	1	3	0	2	1	1	1	3	1	3	2	1	2	1	2	1	8	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:118524021A>G	ENST00000336338.5	-	43	5941	c.5876T>C	c.(5875-5877)tTc>tCc	p.F1959S	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1959						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGTGGCTTGAAATCTAGAAA	0.338																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5875-5877)tTc>tCc		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							78	76	77					1																	118524021		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118524021A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5876T>C	1.37:g.118524021A>G	ENSP00000337804:p.Phe1959Ser					SPAG17_uc021osr.1_Missense_Mutation_p.F469S	p.F1959S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	42	5944	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1959					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5876T>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	0.250	-1.007450	0.02112	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.15834	2.39	4.85	0.473	0.16763	.	1.749420	0.02636	N	0.104860	T	0.00998	0.0033	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	10	0.06365	T	0.9	.	4.6879	0.12767	0.2157:0.3802:0.404:0.0	.	1959	Q6Q759	SPG17_HUMAN	S	1959;439	ENSP00000337804:F1959S	ENSP00000337804:F1959S	F	-	2	0	SPAG17	118325544	0.000000	0.05858	0.054000	0.19295	0.014000	0.08584	-0.397000	0.07269	0.218000	0.20820	-0.248000	0.11899	TTC		0.338	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		G	118524021	A	G	118524021	3	3	181	1	0	0	0	0	1	0	0	0	14979	246	9	4	819	4	SPAG17	1	118524021	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	3122809	118524021	130726600	5	12762											
CRP	1401	broad.mit.edu	37	chr1	159683681	159683681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactgtgacttcaggaacCtcgaataatatttcagaccc	12	11	7	11	1	2	2	2	1	0	1	3	4	2	3	2	1	2	1	2	1	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:159683681C>A	ENST00000255030.5	-	2	412	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_De_novo_Start_OutOfFrame|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'Flank	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	103	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CTTCAGGAACCTCGAATAATA	0.468																																						uc001ftw.3																			0		p.E103K(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(307-309)gaG>gaT		Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)						112	112	112					1																	159683681		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683681C>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.309G>T	1.37:g.159683681C>A	ENSP00000255030:p.Glu103Asp					CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	p.E103D	NM_000567	NP_000558	P02741	CRP_HUMAN			1	413	-	all_hematologic(112;0.0429)		103			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.309G>T	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970346	0.18659	.	.	ENSG00000132693	ENST00000255030	T	0.58060	0.36	4.73	-2.62	0.06152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.320080	0.04710	N	0.417432	T	0.08223	0.0205	N	0.04880	-0.145	0.09310	N	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.08411	-1.0723	10	0.11485	T	0.65	1.5928	5.5367	0.17016	0.4335:0.3532:0.0:0.2132	.	103	P02741	CRP_HUMAN	D	103	ENSP00000255030:E103D	ENSP00000255030:E103D	E	-	3	2	CRP	157950305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.794000	0.01753	-1.482000	0.01860	-2.120000	0.00349	GAG		0.468	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		A	159683681	C	A	159683681	3	1	181	1	0	0	0	0	1	0	0	0	3895	680	24	5	369	5	CRP	1	159683681	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	41159660	159683681	89566940	6	12763											
UHMK1	127933	broad.mit.edu	37	chr1	162492275	162492275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtttgatgggaagtttGttgtggctacattctacccg	7	15	13	6	1	1	1	0	1	1	0	1	3	1	3	1	3	2	4	1	3	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:162492275G>C	ENST00000489294.1	+	8	1353	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L	UHMK1_ENST00000545294.1_Missense_Mutation_p.V325L|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	399	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGGAAGTTTGTTGTGGCTAC	0.423																																						uc001gcc.2																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(1195-1197)Gtt>Ctt		Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.							176	173	174					1																	162492275		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162492275G>C	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.1195G>C	1.37:g.162492275G>C	ENSP00000420270:p.Val399Leu					UHMK1_uc001gcd.3_Missense_Mutation_p.V325L|UHMK1_uc009wuu.2_3'UTR	p.V399L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		7	1391	+	all_hematologic(112;0.115)		399			RRM.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.1195G>C	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659816	0.88154	.	.	ENSG00000152332	ENST00000545294;ENST00000489294	T;D	0.83163	-0.81;-1.69	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	L	0.51853	1.615	.	.	.	P;D	0.61697	0.92;0.99	D;D	0.70935	0.935;0.971	D	0.87590	0.2490	9	0.87932	D	0	-15.0365	15.9723	0.80031	0.0:0.0:1.0:0.0	.	399;325	Q8TAS1;G3V1M1	UHMK1_HUMAN;.	L	325;399	ENSP00000441226:V325L;ENSP00000420270:V399L	ENSP00000420270:V399L	V	+	1	0	UHMK1	160758899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.694000	0.91293	2.788000	0.95919	0.650000	0.86243	GTT		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		C	162492275	G	C	162492275	3	2	181	1	0	0	0	0	1	0	0	0	16963	1377	48	5	1275	5	UHMK1	1	162492275	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	2808594	162492275	86758346	7	12764											
C1orf125	126859	broad.mit.edu	37	chr1	179399690	179399690	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagagtctacaagcgAgacactgaaaattgttaagg	17	8	11	5	1	1	3	0	1	1	2	1	5	1	4	0	2	2	1	0	2	7	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179399690A>C	ENST00000367618.3	+	14	1823	c.1436A>C	c.(1435-1437)gAg>gCg	p.E479A	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E479A	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	479										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTACAAGCGAGACACTGAAA	0.368																																						uc001gmo.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1435-1437)gAg>gCg		Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.							105	102	103					1																	179399690		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179399690A>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1436A>C	1.37:g.179399690A>C	ENSP00000356590:p.Glu479Ala					AXDND1_uc001gmn.2_Missense_Mutation_p.E267A|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E437A	p.E479A	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			13	1823	+			479					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1436A>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310717	0.23821	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.48522	2.1;0.81;2.12	5.09	3.96	0.45880	.	0.168093	0.51477	D	0.000096	T	0.43277	0.1240	M	0.66939	2.045	0.09310	N	1	B;B;B	0.29988	0.131;0.043;0.264	B;B;B	0.28011	0.039;0.016;0.085	T	0.41484	-0.9506	10	0.51188	T	0.08	-1.2421	7.9949	0.30263	0.9056:0.0:0.0944:0.0	.	437;479;479	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	A	479;437;479;413	ENSP00000356590:E479A;ENSP00000416712:E479A;ENSP00000391716:E413A	ENSP00000353471:E437A	E	+	2	0	AXDND1	177666313	0.012000	0.17670	0.005000	0.12908	0.003000	0.03518	2.024000	0.41049	0.879000	0.35944	-0.621000	0.04028	GAG		0.368	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		C	179399690	A	C	179399690	3	2	181	1	0	0	0	0	1	0	0	0	1993	304	11	5	1486	5	C1orf125	1	179399690	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	16907415	179399690	69850931	8	12765											
TDRD5	163589	broad.mit.edu	37	chr1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtgacacatcctcaaacGaagatgtctatttccatcat	12	13	6	10	1	3	2	2	1	1	1	5	3	5	2	2	0	1	0	2	0	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179620128G>A	ENST00000367614.1	+	12	2286	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E643K|TDRD5_ENST00000444136.1_Missense_Mutation_p.E643K	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	643					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413																																						uc010pnp.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1927-1929)Gaa>Aaa		Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.							173	162	166					1																	179620128		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620128G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1927G>A	1.37:g.179620128G>A	ENSP00000356586:p.Glu643Lys					TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	p.E643K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN			11	2445	+			643					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1927G>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081819	0.94050	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.32753	2.63;2.63;2.81;1.44	5.91	5.91	0.95273	.	0.171223	0.52532	D	0.000078	T	0.53690	0.1812	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.37776	-0.9691	10	0.25751	T	0.34	-36.3255	17.0178	0.86424	0.0:0.0:1.0:0.0	.	643;643	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	K	643;643;643;99	ENSP00000356586:E643K;ENSP00000294848:E643K;ENSP00000406052:E643K;ENSP00000410744:E99K	ENSP00000294848:E643K	E	+	1	0	TDRD5	177886751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.965000	0.70387	2.793000	0.96121	0.655000	0.94253	GAA		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		A	179620128	G	A	179620128	3	1	181	1	0	0	0	0	1	0	0	0	15730	1059	37	2	1969	2	TDRD5	1	179620128	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	220438	179620128	69630493	9	12766											
EHD3	30845	broad.mit.edu	37	chr2	31483756	31483756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgccctgcgcaagctcAacgacctcatcaaaagggcc	11	6	9	15	2	3	0	3	0	0	0	3	1	3	0	3	1	5	3	3	1	4	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:31483756A>G	ENST00000322054.5	+	4	1168	c.883A>G	c.(883-885)Aac>Gac	p.N295D	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	295					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCGCAAGCTCAACGACCTCAT	0.622																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(883-885)Aac>Gac		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							58	62	61					2																	31483756		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483756A>G	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.883A>G	2.37:g.31483756A>G	ENSP00000327116:p.Asn295Asp					EHD3_uc010ymt.2_Intron	p.N295D	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1491	+	Acute lymphoblastic leukemia(172;0.155)		295					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.883A>G	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844575	0.71488	.	.	ENSG00000013016	ENST00000322054	D	0.95412	-3.7	4.77	4.77	0.60923	.	0.084263	0.85682	D	0.000000	D	0.95680	0.8595	M	0.81239	2.535	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	D	0.95523	0.8596	10	0.87932	D	0	-28.7003	14.4699	0.67509	1.0:0.0:0.0:0.0	.	295	Q9NZN3	EHD3_HUMAN	D	295	ENSP00000327116:N295D	ENSP00000327116:N295D	N	+	1	0	EHD3	31337260	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	9.139000	0.94554	2.007000	0.58848	0.459000	0.35465	AAC		0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		G	31483756	A	G	31483756	3	3	181	1	0	0	0	0	1	0	0	0	4979	130	5	4	897	4	EHD3	2	31483756	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		31483756	211715617	10	12767											
NCAPH	23397	broad.mit.edu	37	chr2	97035182	97035182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccccctgtcatggctCagaacctctccatacctctg	6	10	7	18	0	4	1	2	0	2	1	5	1	4	1	6	1	3	1	6	1	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:97035182C>A	ENST00000240423.4	+	17	2153	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K	NCAPH_ENST00000455200.1_Missense_Mutation_p.Q693K|NCAPH_ENST00000427946.1_Missense_Mutation_p.Q568K	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	704					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGTCATGGCTCAGAACCTCTC	0.438																																						uc002svz.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2110-2112)Cag>Aag		Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.							203	190	194					2																	97035182		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97035182C>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2110C>A	2.37:g.97035182C>A	ENSP00000240423:p.Gln704Lys					NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K	p.Q704K	NM_015341	NP_056156	Q15003	CND2_HUMAN			16	2194	+		Ovarian(717;0.0221)	704					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.2110C>A	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.23|12.23	1.876375|1.876375	0.33162|0.33162	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000455200|ENST00000435349	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	0.123367|.	0.56097|.	D|.	0.000023|.	T|.	0.61413|.	0.2345|.	L|L	0.52573|0.52573	1.65|1.65	0.40956|0.40956	D|D	0.984586|0.984586	B;P|.	0.37612|.	0.3;0.602|.	B;B|.	0.38225|.	0.065;0.268|.	T|.	0.60419|.	-0.7267|.	10|.	0.02654|.	T|.	1|.	-11.3806|-11.3806	12.911|12.911	0.58181|0.58181	0.1639:0.8361:0.0:0.0|0.1639:0.8361:0.0:0.0	.|.	680;704|.	B4DRG7;Q15003|.	.;CND2_HUMAN|.	K|X	704;568;693|144	ENSP00000240423:Q704K;ENSP00000400774:Q568K;ENSP00000407308:Q693K|.	ENSP00000240423:Q704K|.	Q|S	+|+	1|2	0|0	NCAPH|NCAPH	96398909|96398909	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.994000|2.994000	0.49433|0.49433	1.210000|1.210000	0.43336|0.43336	-0.181000|-0.181000	0.13052|0.13052	CAG|TCA		0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		A	97035182	C	A	97035182	3	1	181	1	0	0	0	0	1	0	0	0	10209	827	29	5	2176	5	NCAPH	2	97035182	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	65551426	97035182	146164191	11	12768											
SP3	6670	broad.mit.edu	37	chr2	174783399	174783399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttgatgttgttggtccCcttcttcatctaccacctgt	4	18	6	13	0	4	1	1	1	3	0	5	1	5	1	4	1	1	2	4	1	1	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:174783399C>T	ENST00000310015.6	-	5	2284	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SP3_ENST00000418194.2_Missense_Mutation_p.G517E|SP3_ENST00000455789.2_Missense_Mutation_p.G532E	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	585	Repressor domain.				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGTTGGTCCCCTTCTTCATC	0.448																																						uc002uig.3																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1753-1755)gGg>gAg		Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.							179	156	164					2																	174783399		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174783399C>T	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1754G>A	2.37:g.174783399C>T	ENSP00000310301:p.Gly585Glu					SP3_uc002uie.3_Missense_Mutation_p.G517E|SP3_uc002uif.3_Missense_Mutation_p.G532E|SP3_uc010zel.2_Missense_Mutation_p.G582E	p.G585E	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	2285	-			585			Repressor domain.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1754G>A	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.22|16.22	3.062089|3.062089	0.55432|0.55432	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|T	0.05513|0.05786	3.46;3.43;3.43|3.39	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.217367|0.217367	0.39083|0.39083	N|N	0.001471|0.001471	T|T	0.12305|0.12305	0.0299|0.0299	L|L	0.50333|0.50333	1.59|1.59	0.53688|0.53688	D|D	0.999975|0.999975	B;B;B|.	0.23990|.	0.095;0.025;0.007|.	B;B;B|.	0.19148|.	0.018;0.024;0.017|.	T|T	0.14504|0.14504	-1.0470|-1.0470	10|8	0.51188|0.16420	T|T	0.08|0.52	.|.	14.8462|14.8462	0.70261|0.70261	0.1438:0.8562:0.0:0.0|0.1438:0.8562:0.0:0.0	.|.	582;585;532|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	E|R	585;532;517|542	ENSP00000310301:G585E;ENSP00000388903:G532E;ENSP00000406140:G517E|ENSP00000413665:G542R	ENSP00000310301:G585E|ENSP00000413665:G542R	G|G	-|-	2|1	0|0	SP3|SP3	174491645|174491645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.586000|2.586000	0.46119|0.46119	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GGG|GGG		0.448	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		T	174783399	C	T	174783399	3	4	181	1	0	0	0	0	1	0	0	0	14965	623	22	3	603	3	SP3	2	174783399	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	77748217	174783399	68415974	12	12769											
TTN	7273	broad.mit.edu	37	chr2	179483009	179483009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacggaataggtactcaaCtcctcctttctgtagaccag	11	10	7	13	1	2	1	1	0	1	1	4	2	4	2	3	2	2	2	3	2	5	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179483009C>A	ENST00000591111.1	-	202	42477	c.42253G>T	c.(42253-42255)Gtt>Ttt	p.V14085F	TTN_ENST00000342175.6_Missense_Mutation_p.V6853F|TTN_ENST00000460472.2_Missense_Mutation_p.V6661F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V15726F|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6786F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13158F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14085	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTACTCAACTCCTCCTTTC	0.458																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39472-39474)Gtt>Ttt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							138	135	136					2																	179483009		1939	4149	6088	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483009C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42253G>T	2.37:g.179483009C>A	ENSP00000465570:p.Val14085Phe					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V6853F|TTN_uc021vta.1_Missense_Mutation_p.V6786F|TTN_uc021vtb.1_Missense_Mutation_p.V6661F	p.V13158F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		200	39697	-			14085			Ig-like 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39472G>T		.	.	.	.	.	.	.	.	.	.	C	8.615	0.889963	0.17540	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.6	2.84	0.33178	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45915	0.1366	L	0.54965	1.715	0.33712	D	0.6159	P;P;P;B	0.38335	0.627;0.627;0.627;0.317	B;B;B;B	0.33799	0.17;0.17;0.17;0.17	T	0.59085	-0.7520	9	0.87932	D	0	.	11.8257	0.52265	0.0:0.8293:0.0:0.1707	.	6661;6786;6853;14085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	13158;6661;6853;6786;6661	ENSP00000343764:V13158F;ENSP00000434586:V6661F;ENSP00000340554:V6853F;ENSP00000352154:V6786F	ENSP00000340554:V6853F	V	-	1	0	TTN	179191254	0.995000	0.38212	0.626000	0.29213	0.824000	0.46624	0.750000	0.26334	0.407000	0.25591	0.650000	0.86243	GTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179483009	C	A	179483009	3	1	181	1	0	0	0	0	1	0	0	0	16732	565	20	5	60961	5	TTN	2	179483009	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	4699610	179483009	63716364	13	12770											
TTN	7273	broad.mit.edu	37	chr2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagctacctttgcggCggaaatgcgttccttatatc	8	12	10	11	3	1	0	1	0	0	0	3	1	2	1	2	3	4	3	2	3	4	5	rs370728359		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179650718C>T	ENST00000591111.1	-	14	2451	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TTN_ENST00000342175.6_Missense_Mutation_p.A697T|TTN_ENST00000460472.2_Missense_Mutation_p.A697T|TTN_ENST00000589042.1_Missense_Mutation_p.A743T|TTN_ENST00000359218.5_Missense_Mutation_p.A697T|TTN_ENST00000342992.6_Missense_Mutation_p.A743T|TTN_ENST00000360870.5_Missense_Mutation_p.A743T			Q8WZ42	TITIN_HUMAN	titin	33584			A -> V (in CMD1G; affects interaction with TCAP/telethonin). {ECO:0000269|PubMed:11846417}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A743T(3)|p.A697T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGCGGCGGAAATGCGT	0.547																																						uc021vsy.1																			6	Substitution - Missense(6)	p.A743T(3)|p.A697T(3)	urinary_tract(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2227-2229)Gcc>Acc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	98	89	92		2089,2089,2227,2227,2089	-1.1	0	2		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	697/27119,697/27052,743/5605,743/33424,697/26927	179650718	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650718C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2227G>A	2.37:g.179650718C>T	ENSP00000465570:p.Ala743Thr					TTN_uc021vsz.1_Missense_Mutation_p.A697T|TTN_uc021vta.1_Missense_Mutation_p.A697T|TTN_uc021vtb.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	p.A743T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	2452	-			743		A -> V (in CMD1G; affects interaction with TCAP/telethonin).			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2227G>A		.	.	.	.	.	.	.	.	.	.	C	7.909	0.736077	0.15574	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.18;0.17;0.16;0.12	6.17	-1.1	0.09872	Ribonuclease H-like (1);	.	.	.	.	T	0.41581	0.1165	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.001;0.004	T	0.26503	-1.0101	9	0.87932	D	0	.	6.8587	0.24054	0.0:0.4598:0.2009:0.3393	.	697;697;697;743;743	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	743;697;697;697;697;743	ENSP00000343764:A743T;ENSP00000434586:A697T;ENSP00000340554:A697T;ENSP00000352154:A697T;ENSP00000354117:A743T	ENSP00000340554:A697T	A	-	1	0	TTN	179358963	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	-0.068000	0.11561	-0.530000	0.06349	0.655000	0.94253	GCC		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179650718	C	T	179650718	3	4	181	1	0	0	0	0	1	0	0	0	16732	768	27	1	109157	1	TTN	2	179650718	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	167709	179650718	63548655	14	12771											
THAP4	51078	broad.mit.edu	37	chr2	242576398	242576398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcgccctttccctgccggTtggagcagttcacggccgca	4	10	11	16	4	2	0	1	0	1	0	4	1	3	1	4	3	2	4	4	3	0	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:242576398T>C	ENST00000407315.1	-	1	466	c.35A>G	c.(34-36)aAc>aGc	p.N12S	ATG4B_ENST00000405546.3_5'Flank|ATG4B_ENST00000404914.3_5'Flank|ATG4B_ENST00000402096.1_5'Flank|ATG4B_ENST00000396411.3_5'Flank|ATG4B_ENST00000474739.2_5'Flank	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	12							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCTGCCGGTTGGAGCAGTT	0.771																																						uc002wbt.3																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(34-36)aAc>aGc		Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.							11	10	11					2																	242576398		2123	4177	6300	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242576398T>C	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.35A>G	2.37:g.242576398T>C	ENSP00000385006:p.Asn12Ser					ATG4B_uc002wbu.3_5'Flank|ATG4B_uc002wbv.3_5'Flank|ATG4B_uc002wbw.3_5'Flank|ATG4B_uc010zox.2_5'Flank|ATG4B_uc010zoy.2_5'Flank|ATG4B_uc010fzp.3_5'Flank	p.N12S	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	0	328	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	12					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.35A>G	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761064	0.49468	.	.	ENSG00000176946	ENST00000407315	D	0.96300	-3.97	2.88	0.236	0.15471	Zinc finger, C2CH-type (3);	1.176280	0.06722	U	0.775140	D	0.92971	0.7763	N	0.26162	0.8	0.80722	D	1	P	0.41910	0.764	P	0.45660	0.489	D	0.86066	0.1535	10	0.87932	D	0	-15.2996	3.9327	0.09293	0.0:0.1245:0.2164:0.659	.	12	Q8WY91	THAP4_HUMAN	S	12	ENSP00000385006:N12S	ENSP00000385006:N12S	N	-	2	0	THAP4	242225071	1.000000	0.71417	0.138000	0.22173	0.423000	0.31445	1.457000	0.35212	0.148000	0.19059	0.156000	0.16432	AAC		0.771	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		C	242576398	T	C	242576398	3	2	181	1	0	0	0	0	1	0	0	0	15843	1725	60	4	1730	4	THAP4	2	242576398	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	62925680	242576398	622975	15	12772											
ITGA9	3680	broad.mit.edu	37	chr3	37583996	37583996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctactttgtgctgctgggaGagaccatgggtcaggtcaca	8	11	13	9	0	3	1	2	0	1	1	3	3	3	2	1	3	3	2	1	3	1	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:37583996G>A	ENST00000264741.5	+	15	1865	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ITGA9_ENST00000422441.1_Missense_Mutation_p.E537K	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	537					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTGCTGGGAGAGACCATGGG	0.527																																						uc003chd.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(1609-1611)Gag>Aag		Homo sapiens integrin, alpha 9 (ITGA9), mRNA.							133	121	125					3																	37583996		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37583996G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1609G>A	3.37:g.37583996G>A	ENSP00000264741:p.Glu537Lys					ITGA9_uc003chc.3_Missense_Mutation_p.E537K	p.E537K	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	14	1662	+			537					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.1609G>A	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288126	0.59976	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.46451	0.87;0.87	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.124993	0.56097	D	0.000028	T	0.38026	0.1025	N	0.14661	0.345	0.53688	D	0.999972	P;P	0.42161	0.48;0.772	B;P	0.46758	0.407;0.526	T	0.08743	-1.0707	10	0.27785	T	0.31	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	537;537	Q13797;E9PDS3	ITA9_HUMAN;.	K	537	ENSP00000397258:E537K;ENSP00000264741:E537K	ENSP00000264741:E537K	E	+	1	0	ITGA9	37559000	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.314000	0.72848	2.753000	0.94483	0.557000	0.71058	GAG		0.527	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37583996	G	A	37583996	3	1	181	1	0	0	0	0	1	0	0	0	7883	943	33	3	1667	3	ITGA9	3	37583996	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		37583996	160438434	16	12773											
SCN10A	6336	broad.mit.edu	37	chr3	38835414	38835414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttgttccctgcttggCagcaatttgcttctctatct	4	20	6	11	0	3	0	0	0	3	0	5	0	4	0	1	1	3	5	1	1	2	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:38835414C>T	ENST00000449082.2	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	30					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCCTGCTTGGCAGCAATTTGC	0.507																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(88-90)Gcc>Acc		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						171	174	173					3																	38835414		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835414C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.88G>A	3.37:g.38835414C>T	ENSP00000390600:p.Ala30Thr						p.A30T	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	0	88	-			30					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.88G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015061	0.54468	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	5.05	5.05	0.67936	.	1.595590	0.04035	N	0.302173	D	0.96962	0.9008	L	0.53249	1.67	0.25791	N	0.984611	D	0.64830	0.994	P	0.56434	0.798	D	0.89858	0.4014	10	0.87932	D	0	.	16.7597	0.85508	0.0:1.0:0.0:0.0	.	30	Q9Y5Y9	SCNAA_HUMAN	T	30	ENSP00000390600:A30T	ENSP00000390600:A30T	A	-	1	0	SCN10A	38810418	0.075000	0.21258	0.796000	0.32109	0.914000	0.54420	1.798000	0.38814	2.624000	0.88883	0.563000	0.77884	GCC		0.507	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38835414	C	T	38835414	3	4	181	1	0	0	0	0	1	0	0	0	13912	710	25	3	5890	3	SCN10A	3	38835414	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	1251418	38835414	159187016	17	12774											
EPHA3	2042	broad.mit.edu	37	chr3	89259060	89259060	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacacacccatcaggacttaCcaggtgtgcaatgtcatgga	12	9	9	11	0	2	0	2	0	0	0	2	2	2	2	2	3	3	1	2	3	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:89259060C>G	ENST00000336596.2	+	3	429	c.204C>G	c.(202-204)taC>taG	p.Y68*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y68*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y68*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	68	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAGGACTTACCAGGTGTGCA	0.438										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(202-204)taC>taG		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							67	64	65					3																	89259060		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259060C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.204C>G	3.37:g.89259060C>G	ENSP00000337451:p.Tyr68*	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y68*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.Y68*	p.Y68*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	2	429	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	68					Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.204C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119623	0.94385	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.34	3.48	0.39840	.	0.069991	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7851	0.46401	0.0:0.8485:0.0:0.1515	.	.	.	.	X	68	.	.	Y	+	3	2	EPHA3	89341750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.738000	0.47401	0.574000	0.29417	0.563000	0.77884	TAC		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		G	89259060	C	G	89259060	4	3	181	1	0	0	0	0	0	1	0	0	5168	518	18	5	214	5	EPHA3	3	89259060	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	50423646	89259060	108763370	18	12775											
OR5H1	26341	broad.mit.edu	37	chr3	97852369	97852369	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatatggtggagcctctAttctacactgtcatcattcc	10	13	7	11	0	4	1	2	0	2	1	5	2	5	2	2	2	2	0	2	2	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:97852369A>G	ENST00000354565.2	+	1	828	c.828A>G	c.(826-828)ctA>ctG	p.L276L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGGAGCCTCTATTCTACACTG	0.388																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(826-828)ctA>ctG		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							107	113	111					3																	97852369		2203	4299	6502	SO:0001819	synonymous_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852369A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.828A>G	3.37:g.97852369A>G							p.L276L	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	828	+			276						Silent	SNP	ENST00000354565.2	37	c.828A>G	CCDS33797.1																																																																																				0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		G	97852369	A	G	97852369	2	3	181	1	0	0	0	0	0	0	0	1	11159	436	16	4		4	OR5H1	3	97852369	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	8593309	97852369	100170061	19	12776											
PARP9	83666	broad.mit.edu	37	chr3	122271392	122271392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttgtggcaagaaattccGatttcatttcaactcctgct	9	15	6	11	1	2	1	2	0	0	1	4	2	4	1	3	1	2	2	3	1	3	4	rs376922210		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:122271392G>A	ENST00000360356.2	-	5	1312	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	PARP9_ENST00000462315.1_Missense_Mutation_p.S327L|PARP9_ENST00000477522.2_Missense_Mutation_p.S327L|PARP9_ENST00000471785.1_Missense_Mutation_p.S327L|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	362	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGAAATTCCGATTTCATTTC	0.373																																						uc010hri.3																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1084-1086)tCg>tTg		Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	109	110	110		1085,980,980,980,980,1085	-8.6	0	3		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	145,145,145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	362/855,327/820,327/820,327/820,327/711,362/855	122271392	1,13005	2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122271392G>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1085C>T	3.37:g.122271392G>A	ENSP00000353512:p.Ser362Leu					PARP9_uc003eff.4_Missense_Mutation_p.S327L|PARP9_uc011bjs.2_Missense_Mutation_p.S327L|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S327L|PARP9_uc003efh.3_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	p.S362L	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	1230	-			362			Macro 2.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1085C>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	2.565	-0.300966	0.05495	0.0	1.16E-4	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.3	-8.61	0.00885	Appr-1-p processing (3);	4.206180	0.00166	N	0.000019	T	0.07458	0.0188	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.16305	-1.0407	10	0.24483	T	0.36	.	3.2353	0.06762	0.4746:0.0963:0.073:0.3561	.	327;362;327	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	L	362;327;327;285;327	ENSP00000353512:S362L;ENSP00000419506:S327L;ENSP00000419001:S327L;ENSP00000418894:S327L	ENSP00000353512:S362L	S	-	2	0	PARP9	123754082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.375000	0.02563	-4.880000	0.00028	-2.211000	0.00300	TCG		0.373	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		A	122271392	G	A	122271392	3	1	181	1	0	0	0	0	1	0	0	0	11466	1059	37	2	1560	2	PARP9	3	122271392	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	24419023	122271392	75751038	20	12777											
CPNE4	131034	broad.mit.edu	37	chr3	131261494	131261494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccatcatcaccgtccagCatctgcatgtcactgaagtc	10	10	6	15	1	4	1	3	1	1	0	7	1	6	1	3	0	2	2	3	0	1	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:131261494C>T	ENST00000512055.1	-	19	3572	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	CPNE4_ENST00000502818.1_Missense_Mutation_p.M500I|CPNE4_ENST00000429747.1_Missense_Mutation_p.M482I|CPNE4_ENST00000512332.1_Missense_Mutation_p.M500I|CPNE4_ENST00000511604.1_Missense_Mutation_p.M482I			Q96A23	CPNE4_HUMAN	copine IV	482	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACCGTCCAGCATCTGCATGT	0.557																																						uc011blq.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1498-1500)atG>atA		Homo sapiens copine IV (CPNE4), mRNA.							179	150	160					3																	131261494		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261494C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1446G>A	3.37:g.131261494C>T	ENSP00000421705:p.Met482Ile					CPNE4_uc003eok.3_Missense_Mutation_p.M482I|CPNE4_uc003eol.3_Missense_Mutation_p.M500I|CPNE4_uc003eom.3_Missense_Mutation_p.M482I|CPNE4_uc003eoj.3_Missense_Mutation_p.M33I	p.M500I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			14	1610	-			482			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1500G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422301	0.25639	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.035506	0.85682	D	0.000000	T	0.08492	0.0211	N	0.00869	-1.13	0.50813	D	0.999891	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36601	-0.9741	10	0.17832	T	0.49	-34.1664	19.5825	0.95473	0.0:1.0:0.0:0.0	.	500;482	Q96A23-2;Q96A23	.;CPNE4_HUMAN	I	482;482;500;482;500	ENSP00000421705:M482I;ENSP00000411904:M482I;ENSP00000424853:M500I;ENSP00000423811:M482I;ENSP00000421646:M500I	ENSP00000411904:M482I	M	-	3	0	CPNE4	132744184	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.280000	0.33202	2.624000	0.88883	0.655000	0.94253	ATG		0.557	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		T	131261494	C	T	131261494	3	4	181	1	0	0	0	0	1	0	0	0	3814	710	25	3	235	3	CPNE4	3	131261494	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	8990102	131261494	66760936	21	12778											
NPHP3	27031	broad.mit.edu	37	chr3	132413753	132413754	+	Frame_Shift_Ins	INS	-	-	C																															tctatataatgaaagagtatINScttgacactggaaacactga																										TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:132413753_132413754insC	ENST00000337331.5	-	16	2313_2314	c.2227_2228insG	c.(2227-2229)gatfs	p.D743fs	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	743					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAGAGTATCTTGACACTGG	0.381																																						uc003epe.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2227-2229)gatfs		Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.																																				SO:0001589	frameshift_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132413753_132413754insC	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2228dupG	3.37:g.132413754_132413754dupC	ENSP00000338766:p.Asp743fs					NPHP3_uc003epd.2_5'UTR	p.D743fs	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			15	2331_2332	-			743					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Ins	INS	ENST00000337331.5	37	c.2227_2228insG	CCDS3078.1																																																																																				0.381	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		C	132413754	-	C	132413753	7	5	181	1	0	1	1	0	0	0	0	0	10580	1435	50	0	1812	0	NPHP3	3	132413753	Frame_Shift_Ins	INS	-	TCGA-26-6174-01A-21D-1845-08	1152259	132413753	65608677	22	12779											
ALG3	10195	broad.mit.edu	37	chr3	183961666	183961666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgatgcaggaagagcGcctctgggaggaagcgccag	10	4	17	10	3	1	1	0	0	1	1	2	5	1	4	2	4	3	2	2	4	2	0	rs2233466	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:183961666G>A	ENST00000397676.3	-	6	875	c.845C>T	c.(844-846)gCg>gTg	p.A282V	ALG3_ENST00000455059.1_Missense_Mutation_p.A242V|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000445626.2_Missense_Mutation_p.A234V|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000418734.2_Missense_Mutation_p.A226V	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	282					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGAAGAGCGCCTCTGGGAG	0.612													G|||	3	0.000599042	0.0015	0	5008	,	,		18369	0.001		0	False		,,,				2504	0					uc003fne.2																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(844-846)gCg>gTg		Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	9,4059		0,9,2025	39	47	44		701,845	4.7	1	3	dbSNP_98	44	3,8375		0,3,4186	yes	missense,missense	ALG3	NM_001006941.2,NM_005787.5	64,64	0,12,6211	AA,AG,GG		0.0358,0.2212,0.0964	benign,benign	234/391,282/439	183961666	12,12434	2034	4189	6223	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183961666G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.845C>T	3.37:g.183961666G>A	ENSP00000380793:p.Ala282Val					ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V	p.A282V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	876	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		282					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.845C>T	CCDS46968.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	15.74	2.924005	0.52653	0.002212	3.58E-4	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.58	4.68	0.58851	.	0.735699	0.12945	U	0.426294	T	0.80121	0.4565	L	0.53249	1.67	0.21950	N	0.999459	B;P;B;B	0.39520	0.386;0.676;0.366;0.16	B;B;B;B	0.31495	0.065;0.065;0.131;0.052	T	0.72590	-0.4247	10	0.46703	T	0.11	-2.2393	4.6424	0.12556	0.0809:0.1433:0.6067:0.1691	rs2233466	234;226;242;282	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	V	226;282;234;242	ENSP00000402976:A226V;ENSP00000380793:A282V;ENSP00000402744:A234V;ENSP00000397613:A242V	ENSP00000380793:A282V	A	-	2	0	ALG3	185444360	0.988000	0.35896	0.971000	0.41717	0.944000	0.59088	2.518000	0.45537	1.313000	0.45069	0.555000	0.69702	GCG		0.612	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		A	183961666	G	A	183961666	3	1	181	1	0	0	0	0	1	0	0	0	520	1087	38	1	487	1	ALG3	3	183961666	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	51547913	183961666	14060764	23	12780											
CDKL2	8999	broad.mit.edu	37	chr4	76522320	76522320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcatggagacagctggcaTttgaagctctattgcctttt	8	15	10	8	0	2	2	1	1	1	1	2	3	2	2	1	2	3	3	1	2	2	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:76522320T>C	ENST00000429927.2	-	9	1824	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	CDKL2_ENST00000307465.4_Missense_Mutation_p.N374S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	374					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGCTGGCATTTGAAGCTCT	0.393																																						uc011cbp.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1120-1122)aAt>aGt		Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.							173	153	160					4																	76522320		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522320T>C	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1121A>G	4.37:g.76522320T>C	ENSP00000412365:p.Asn374Ser					CDKL2_uc003hiq.3_Missense_Mutation_p.N374S	p.N374S	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1646	-			374					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1121A>G	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822032	0.32237	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71461	1.01;-0.57	4.74	4.74	0.60224	.	.	.	.	.	T	0.60625	0.2283	L	0.32530	0.975	0.23827	N	0.996737	B;B	0.20368	0.044;0.031	B;B	0.19148	0.024;0.021	T	0.52961	-0.8505	9	0.44086	T	0.13	-35.5002	11.849	0.52401	0.0:0.0:0.0:1.0	.	374;374	B4DH08;Q92772	.;CDKL2_HUMAN	S	374	ENSP00000412365:N374S;ENSP00000306340:N374S	ENSP00000306340:N374S	N	-	2	0	CDKL2	76741344	0.947000	0.32204	0.997000	0.53966	0.627000	0.37826	4.111000	0.57838	1.977000	0.57605	0.482000	0.46254	AAT		0.393	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		C	76522320	T	C	76522320	3	2	181	1	0	0	0	0	1	0	0	0	3154	1493	52	4	372	4	CDKL2	4	76522320	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		76522320	114631956	24	12781											
THAP9	79725	broad.mit.edu	37	chr4	83825996	83825996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accaggtgctatactgtgttCcaaacattttcaagaaagtg	13	12	8	8	0	1	1	1	0	0	1	2	1	2	1	2	1	3	2	2	1	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:83825996C>G	ENST00000302236.5	+	2	239	c.188C>G	c.(187-189)tCc>tGc	p.S63C		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	63					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACTGTGTTCCAAACATTTT	0.403																																						uc003hnt.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(187-189)tCc>tGc		Homo sapiens THAP domain containing 9 (THAP9), mRNA.							90	91	91					4																	83825996		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83825996C>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.188C>G	4.37:g.83825996C>G	ENSP00000305533:p.Ser63Cys					THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	p.S63C	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			1	307	+		Hepatocellular(203;0.114)	63					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.188C>G	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597022	0.66332	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.97279	-4.32	3.56	3.56	0.40772	Zinc finger, C2CH-type (4);	0.330948	0.22296	N	0.061927	D	0.98267	0.9426	M	0.85462	2.755	0.30018	N	0.814563	D	0.89917	1.0	D	0.87578	0.998	D	0.95070	0.8203	9	.	.	.	-10.1069	12.9659	0.58483	0.0:1.0:0.0:0.0	.	63	Q9H5L6	THAP9_HUMAN	C	63	ENSP00000305533:S63C	.	S	+	2	0	THAP9	84045020	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.352000	0.52239	2.308000	0.77769	0.650000	0.86243	TCC		0.403	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		G	83825996	C	G	83825996	3	3	181	1	0	0	0	0	1	0	0	0	15848	855	30	5	194	5	THAP9	4	83825996	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	7303676	83825996	107328280	25	12782											
DDX60L	91351	broad.mit.edu	37	chr4	169279395	169279395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggactacattgtcaCgcttattttcacatagttca	11	14	6	10	1	3	0	3	0	0	0	3	1	3	1	1	1	2	2	1	1	3	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:169279395C>T	ENST00000511577.1	-	38	5271	c.5024G>A	c.(5023-5025)cGt>cAt	p.R1675H	DDX60L_ENST00000260184.7_Missense_Mutation_p.R1675H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1675							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACATTGTCACGCTTATTTTC	0.269																																						uc021xuh.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(5023-5025)cGt>cAt		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.							98	86	90					4																	169279395		1800	4071	5871	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169279395C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.5024G>A	4.37:g.169279395C>T	ENSP00000422423:p.Arg1675His					DDX60L_uc003irq.4_Missense_Mutation_p.R1675H	p.R1675H	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	36	5134	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1675					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.5024G>A		.	.	.	.	.	.	.	.	.	.	T	1.085	-0.665679	0.03428	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.18016	2.24;2.24	2.45	1.22	0.21188	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36672	-0.9738	9	0.34782	T	0.22	.	4.6434	0.12560	0.0:0.3246:0.0:0.6754	.	1675	Q5H9U9	DDX6L_HUMAN	H	1675	ENSP00000260184:R1675H;ENSP00000422423:R1675H	ENSP00000260184:R1675H	R	-	2	0	DDX60L	169515970	0.009000	0.17119	0.003000	0.11579	0.057000	0.15508	1.046000	0.30354	-0.167000	0.10871	-1.376000	0.01182	CGT		0.269	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		T	169279395	C	T	169279395	3	4	181	1	0	0	0	0	1	0	0	0	4379	536	19	1	100	1	DDX60L	4	169279395	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	85453399	169279395	21874881	26	12783											
MYO10	4651	broad.mit.edu	37	chr5	16877810	16877810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctctcagccagacccGtgttccctgtaaacaaaaca	12	11	5	13	1	2	1	1	0	1	1	4	1	3	1	3	0	3	2	3	0	4	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:16877810G>A	ENST00000513610.1	-	2	482	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MYO10_ENST00000507288.1_Missense_Mutation_p.R10W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	10					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGCCAGACCCGTGTTCCCTGT	0.438																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(28-30)Cgg>Tgg		Homo sapiens myosin X (MYO10), mRNA.							59	59	59					5																	16877810		1969	4176	6145	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16877810G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.28C>T	5.37:g.16877810G>A	ENSP00000421280:p.Arg10Trp					MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	p.R10W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			1	496	-			10			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.28C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904210	0.52333	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000507288	D;D;D	0.88124	-2.32;-2.34;-2.0	5.32	5.32	0.75619	.	.	.	.	.	T	0.81278	0.4789	L	0.48260	1.515	0.80722	D	1	P;P	0.42375	0.778;0.487	B;B	0.30855	0.121;0.015	T	0.82454	-0.0449	9	0.39692	T	0.17	.	16.482	0.84160	0.0:0.0:1.0:0.0	.	10;10	Q8IVX5;Q9HD67	.;MYO10_HUMAN	W	10;21;10	ENSP00000421280:R10W;ENSP00000421309:R21W;ENSP00000426664:R10W	ENSP00000426664:R10W	R	-	1	2	MYO10	16930810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.722000	0.61958	2.486000	0.83907	0.561000	0.74099	CGG		0.438	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		A	16877810	G	A	16877810	3	1	181	1	0	0	0	0	1	0	0	0	10062	1144	40	1	6308	1	MYO10	5	16877810	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		16877810	164037450	27	12784											
PARP8	79668	broad.mit.edu	37	chr5	50091080	50091080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaatctcagaatggaagaAttatatggactgaaaaatca	19	10	8	4	0	2	3	2	1	1	2	3	5	2	5	0	2	0	1	0	2	8	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:50091080A>G	ENST00000281631.5	+	12	1415	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	PARP8_ENST00000505697.2_Silent_p.E419E|PARP8_ENST00000514342.2_Silent_p.E172E|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Silent_p.E419E|PARP8_ENST00000503750.2_Silent_p.E419E|PARP8_ENST00000505554.1_Silent_p.E398E	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	419						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATGGAAGAATTATATGGAC	0.438																																						uc003jon.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1255-1257)gaA>gaG		Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.							80	80	80					5																	50091080		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091080A>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1257A>G	5.37:g.50091080A>G						PARP8_uc011cpz.2_Silent_p.E311E|PARP8_uc003joo.3_Silent_p.E419E|PARP8_uc003jop.3_Silent_p.E419E	p.E419E	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN			12	1439	+		Lung NSC(810;0.0305)|Breast(144;0.222)	419					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1257A>G	CCDS3954.1																																																																																				0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		G	50091080	A	G	50091080	2	3	181	1	0	0	0	0	0	0	0	1	11465	98	4	4		4	PARP8	5	50091080	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	33213270	50091080	130824180	28	12785											
DDX4	54514	broad.mit.edu	37	chr5	55083703	55083703	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctaccaattttggctcaTatgatgcatgatggaataac	12	13	7	9	0	1	2	1	2	0	0	2	3	2	3	2	2	3	2	2	2	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:55083703T>C	ENST00000505374.1	+	15	1139	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	DDX4_ENST00000353507.5_Silent_p.H315H|DDX4_ENST00000514278.2_Silent_p.H329H|DDX4_ENST00000354991.5_Silent_p.H315H|DDX4_ENST00000511853.1_Silent_p.H200H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	349	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGCTCATATGATGCATG	0.383																																						uc003jqg.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1045-1047)caT>caC		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.							100	102	101					5																	55083703		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083703T>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1047T>C	5.37:g.55083703T>C						DDX4_uc010ivz.3_Silent_p.H329H|DDX4_uc003jqh.4_Silent_p.H315H|DDX4_uc003jqj.3_Silent_p.H200H	p.H349H	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN			14	1146	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	349			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1047T>C	CCDS3969.1																																																																																				0.383	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		C	55083703	T	C	55083703	2	2	181	1	0	0	0	0	0	0	0	1	4360	1403	49	4		4	DDX4	5	55083703	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	4992623	55083703	125831557	29	12786											
MAST4	375449	broad.mit.edu	37	chr5	66460727	66460727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaggtccccatcctactgCcaggagccctggaacagtca	11	6	10	14	0	1	0	1	0	0	0	3	3	3	2	5	3	4	0	5	3	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:66460727C>A	ENST00000403625.2	+	29	6015	c.5720C>A	c.(5719-5721)gCc>gAc	p.A1907D	MAST4_ENST00000404260.3_Missense_Mutation_p.A1910D|MAST4_ENST00000405643.1_Missense_Mutation_p.A1728D|MAST4_ENST00000403666.1_Missense_Mutation_p.A1718D|MAST4_ENST00000261569.7_Missense_Mutation_p.A1713D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1910						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CATCCTACTGCCAGGAGCCCT	0.582																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5719-5721)gCc>gAc		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							48	54	52					5																	66460727		1994	4168	6162	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460727C>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5720C>A	5.37:g.66460727C>A	ENSP00000385727:p.Ala1907Asp					MAST4_uc003jut.2_Missense_Mutation_p.A1718D|MAST4_uc003juw.3_Missense_Mutation_p.A1646D|MAST4_uc003jux.3_5'Flank	p.A1907D	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	28	6028	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1910					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.5720C>A	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.214797|2.214797	0.39102|0.39102	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.69175|.	-0.36;-0.36;-0.38;-0.38;-0.35|.	4.78|4.78	1.64|1.64	0.23874|0.23874	.|.	1.556490|.	0.03664|.	N|.	0.243071|.	T|.	0.33731|.	0.0873|.	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;P|.	0.36837|.	0.435;0.571|.	B;B|.	0.34385|.	0.088;0.181|.	T|.	0.23833|.	-1.0177|.	10|.	0.72032|.	D|.	0.01|.	-3.3619|-3.3619	8.7169|8.7169	0.34416|0.34416	0.0:0.5974:0.3124:0.0902|0.0:0.5974:0.3124:0.0902	.|.	1910;1718|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	D|X	1910;1907;1718;1728;1728;1713|963	ENSP00000385048:A1910D;ENSP00000385727:A1907D;ENSP00000384313:A1718D;ENSP00000384099:A1728D;ENSP00000261569:A1713D|.	ENSP00000261569:A1713D|.	A|C	+|+	2|3	0|2	MAST4|MAST4	66496483|66496483	0.001000|0.001000	0.12720|0.12720	0.060000|0.060000	0.19600|0.19600	0.186000|0.186000	0.23388|0.23388	0.432000|0.432000	0.21461|0.21461	0.556000|0.556000	0.29098|0.29098	0.467000|0.467000	0.42956|0.42956	GCC|TGC		0.582	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66460727	C	A	66460727	3	1	181	1	0	0	0	0	1	0	0	0	9327	739	26	5	5964	5	MAST4	5	66460727	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	11377024	66460727	114454533	30	12787											
PIK3R1	5295	broad.mit.edu	37	chr5	67591145	67591145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaaagacgagagaccaaTacttgatgtaagtatttgaa	17	10	10	4	1	0	5	0	3	0	3	0	8	0	5	1	0	1	2	1	0	6	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:67591145T>G	ENST00000521381.1	+	13	2354	c.1738T>G	c.(1738-1740)Tac>Gac	p.Y580D	PIK3R1_ENST00000523872.1_Missense_Mutation_p.Y217D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.Y310D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Y580D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Y280D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Y580D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Y580D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	580					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R577_M582>K(1)|p.Q579_Y580insDK(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAGAGACCAATACTTGATGTA	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Insertion - In frame(1)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	p.R577_M582>K(2)|p.Q579_Y580insDK(2)|p.0?(1)|p.?(1)|p.Q579fs*23(1)|p.Y580fs*1(1)	large_intestine(1)|lung(1)|breast(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1738-1740)Tac>Gac		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						138	137	138					5																	67591145		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591145T>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1738T>G	5.37:g.67591145T>G	ENSP00000428056:p.Tyr580Asp	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.3_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.3_Missense_Mutation_p.Y259D|PIK3R1_uc021xzn.1_Missense_Mutation_p.Y217D|PIK3R1_uc011crb.2_Missense_Mutation_p.Y250D	p.Y580D	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2318	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	580					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1738T>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315623	0.81469	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	0.997;0.994;0.994;1.0	D;D;D;D	0.78314	0.942;0.949;0.949;0.991	T	0.65158	-0.6236	10	0.66056	D	0.02	-14.7418	14.6505	0.68794	0.0:0.0:0.0:1.0	.	250;310;280;580	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	D	580;580;580;580;280;310;217	ENSP00000428056:Y580D;ENSP00000429277:Y580D;ENSP00000379855:Y580D;ENSP00000274335:Y580D;ENSP00000323512:Y280D;ENSP00000338554:Y310D;ENSP00000430098:Y217D	ENSP00000274335:Y580D	Y	+	1	0	PIK3R1	67626901	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	7.825000	0.86693	2.103000	0.63969	0.477000	0.44152	TAC		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		G	67591145	T	G	67591145	3	3	181	1	0	0	0	0	1	0	0	0	11918	1406	49	5	1914	5	PIK3R1	5	67591145	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	1130418	67591145	113324115	31	12788											
PCDHA3	56145	broad.mit.edu	37	chr5	140182250	140182250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcgcaggagaacgccctgGtgtcctactcgctggtggaa	8	7	14	12	4	0	1	0	0	0	1	2	3	1	2	2	4	2	2	2	4	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140182250G>C	ENST00000522353.2	+	1	1468	c.1468G>C	c.(1468-1470)Gtg>Ctg	p.V490L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V490L	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCCTGGTGTCCTACTC	0.677																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1468-1470)Gtg>Ctg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							83	88	86					5																	140182250		2203	4299	6502	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140182250G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1468G>C	5.37:g.140182250G>C	ENSP00000429808:p.Val490Leu					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V490L	p.V490L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1468	+			504			Cadherin 5.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1468G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	15.29	2.789461	0.49997	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53206	0.63;0.63	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.37623	U	0.002010	T	0.50582	0.1624	N	0.21448	0.665	0.23681	N	0.99712	D;D	0.76494	0.981;0.999	P;D	0.68353	0.873;0.957	T	0.39418	-0.9615	10	0.36615	T	0.2	.	11.6726	0.51411	0.0827:0.0:0.9173:0.0	.	490;490	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	490	ENSP00000429808:V490L;ENSP00000434086:V490L	ENSP00000429808:V490L	V	+	1	0	PCDHA3	140162434	0.672000	0.27530	0.970000	0.41538	0.790000	0.44656	0.795000	0.26972	2.374000	0.81015	0.461000	0.40582	GTG		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		C	140182250	G	C	140182250	3	2	181	1	0	0	0	0	1	0	0	0	11525	1261	44	5	1470	5	PCDHA3	5	140182250	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	72591105	140182250	40733010	32	12789											
PCDHA13	56136	broad.mit.edu	37	chr5	140263908	140263908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgtcggcaggCgctgtgggtccagaagcggc	5	6	19	11	6	0	1	0	0	0	1	4	2	1	1	1	5	1	2	1	5	1	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140263908C>T	ENST00000289272.2	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G685G|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2053-2055)ggC>ggT		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							62	53	56					5																	140263908		2203	4299	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263908C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2055C>T	5.37:g.140263908C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2055	+			698			Cadherin 6.		O75277	Silent	SNP	ENST00000289272.2	37	c.2055C>T	CCDS4240.1																																																																																				0.632	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263908	C	T	140263908	2	4	181	1	0	0	0	0	0	0	0	1	11523	755	27	1		1	PCDHA13	5	140263908	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	81658	140263908	40651352	33	12790											
KIF4B	285643	broad.mit.edu	37	chr5	154393521	154393521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccagatgtgcctttccttCgtgcccggggagactcaggt	5	11	13	12	2	1	2	1	0	0	2	3	3	2	2	4	3	3	0	4	3	0	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:154393521C>T	ENST00000435029.4	+	1	262	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	34	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCTTTCCTTCGTGCCCGGGG	0.512																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(100-102)ttC>ttT		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							108	103	104					5																	154393521		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393521C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.102C>T	5.37:g.154393521C>T							p.F34F	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	262	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	34			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.102C>T	CCDS47324.1																																																																																				0.512	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154393521	C	T	154393521	2	4	181	1	0	0	0	0	0	0	0	1	8304	883	31	2		2	KIF4B	5	154393521	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	14129613	154393521	26521739	34	12791											
ADAMTS2	9509	broad.mit.edu	37	chr5	178579165	178579165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaggtgcacacatagtcCcgtccaaggggggccccttc	7	7	12	15	1	0	0	0	0	0	0	3	0	2	0	5	4	2	1	5	4	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:178579165C>T	ENST00000251582.7	-	10	1708	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G536E	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	536	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACATAGTCCCGTCCAAGGG	0.602																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1606-1608)gGg>gAg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							61	56	58					5																	178579165		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178579165C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1607G>A	5.37:g.178579165C>T	ENSP00000251582:p.Gly536Glu					ADAMTS2_uc011dgm.2_Missense_Mutation_p.G536E	p.G536E	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1709	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	536			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1607G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515473	0.64634	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;D	0.85955	-1.04;-2.05	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000022	D	0.94742	0.8303	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95988	0.8983	10	0.87932	D	0	.	18.1139	0.89545	0.0:1.0:0.0:0.0	.	536;536	O95450-2;O95450	.;ATS2_HUMAN	E	536	ENSP00000251582:G536E;ENSP00000274609:G536E	ENSP00000251582:G536E	G	-	2	0	ADAMTS2	178511771	1.000000	0.71417	0.960000	0.40013	0.089000	0.18198	7.621000	0.83083	2.513000	0.84729	0.556000	0.70494	GGG		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178579165	C	T	178579165	3	4	181	1	0	0	0	0	1	0	0	0	265	623	22	3	2155	3	ADAMTS2	5	178579165	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	24185644	178579165	2336095	35	12792											
COL11A2	1302	broad.mit.edu	37	chr6	33132163	33132163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagcaggggtaggagaCgtcctggtgggctgagacgc	8	6	18	9	2	0	3	0	1	0	3	2	5	2	3	2	5	1	3	2	5	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:33132163C>A	ENST00000374708.4	-	63	4951	c.4693G>T	c.(4693-4695)Gtc>Ttc	p.V1565F	COL11A2_ENST00000395197.1_Missense_Mutation_p.V1591F|COL11A2_ENST00000374714.1_Missense_Mutation_p.V1625F|COL11A2_ENST00000357486.1_Missense_Mutation_p.V1630F|COL11A2_ENST00000374713.1_Missense_Mutation_p.V1604F|COL11A2_ENST00000361917.1_Missense_Mutation_p.V1544F|COL11A2_ENST00000374712.1_Missense_Mutation_p.V1570F|COL11A2_ENST00000341947.2_Missense_Mutation_p.V1651F|COL11A2_ENST00000477772.1_5'UTR	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1651	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTAGGAGACGTCCTGGTGG	0.622																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4951-4953)Gtc>Ttc		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							26	21	23					6																	33132163		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33132163C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4693G>T	6.37:g.33132163C>A	ENSP00000363840:p.Val1565Phe					COL11A2_uc010jul.1_Missense_Mutation_p.V221F|COL11A2_uc003ocy.1_Missense_Mutation_p.V1565F|COL11A2_uc003ocz.1_Missense_Mutation_p.V1544F	p.V1651F	NM_080680	NP_542411	P13942	COBA2_HUMAN			64	5179	-			1651			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4951G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540281	0.13250	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.87	0.64	0.17752	Fibrillar collagen, C-terminal (4);	0.352782	0.26136	N	0.026127	T	0.18130	0.0435	N	0.04260	-0.245	0.25279	N	0.989459	B;B;B;B	0.29341	0.242;0.0;0.0;0.0	B;B;B;B	0.31547	0.132;0.002;0.002;0.003	T	0.46005	-0.9222	10	0.02654	T	1	.	4.2733	0.10797	0.148:0.4788:0.0:0.3732	.	247;1544;1565;1651	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	F	1565;1651;1630;1625;1604;1591;1570;1544;221	ENSP00000363840:V1565F;ENSP00000339915:V1651F;ENSP00000350079:V1630F;ENSP00000363846:V1625F;ENSP00000363845:V1604F;ENSP00000378623:V1591F;ENSP00000363844:V1570F;ENSP00000355123:V1544F	ENSP00000339915:V1651F	V	-	1	0	COL11A2	33240141	0.040000	0.19996	0.795000	0.32087	0.760000	0.43138	-0.051000	0.11885	-0.068000	0.12953	-0.743000	0.03520	GTC		0.622	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33132163	C	A	33132163	3	1	181	1	0	0	0	0	1	0	0	0	3668	536	19	5	267	5	COL11A2	6	33132163	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		33132163	137982904	36	12793											
C6orf127	340204	broad.mit.edu	37	chr6	35754829	35754829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagactggctgctgccaaCgtgctccagacaattgcgag	9	7	13	12	3	0	2	0	0	0	2	1	4	1	2	2	1	5	3	2	1	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:35754829C>T	ENST00000373861.5	+	2	248	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	CLPSL1_ENST00000542261.1_Missense_Mutation_p.R51C			A2RUU4	COLL1_HUMAN	colipase-like 1	52					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CTGCTGCCAACGTGCTCCAGA	0.672																																						uc003old.4																			0											c.(154-156)Cgt>Tgt		Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.							19	27	25					6																	35754829		2153	4253	6406	SO:0001583	missense	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754829C>T		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 127"	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.154C>T	6.37:g.35754829C>T	ENSP00000362968:p.Arg52Cys						p.R52C	NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN			1	211	+			52					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	c.154C>T	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025398	0.07589	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.36157	1.27;1.27	2.15	-4.05	0.03998	.	0.394329	0.14496	U	0.316004	T	0.16599	0.0399	L	0.47190	1.495	0.09310	N	1	D	0.67145	0.996	P	0.54815	0.761	T	0.07693	-1.0759	10	0.87932	D	0	.	0.1532	0.00095	0.3361:0.2426:0.1664:0.2548	.	52	A2RUU4	CF127_HUMAN	C	52;52;51;5	ENSP00000362968:R52C;ENSP00000438478:R51C	ENSP00000362967:R52C	R	+	1	0	C6orf127	35862807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.595000	0.02093	-1.247000	0.02507	0.460000	0.39030	CGT		0.672	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		T	35754829	C	T	35754829	3	4	181	1	0	0	0	0	1	0	0	0	2327	536	19	1	160	1	C6orf127	6	35754829	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	2622666	35754829	135360238	37	12794											
KHDRBS2	202559	broad.mit.edu	37	chr6	62407128	62407128	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataggcatcctcacttacTccatgaccgtagtcatagta	11	12	6	12	1	3	1	3	1	0	0	5	1	5	1	3	1	1	3	3	1	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:62407128T>C	ENST00000281156.4	-	8	1202	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	308			G -> A (in dbSNP:rs7449840).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTCACTTACTCCATGACCGT	0.378																																						uc003peg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(922-924)ggA>ggG		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							135	110	118					6																	62407128		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62407128T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.924A>G	6.37:g.62407128T>C							p.G308G	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1171	-			308		G -> A (in dbSNP:rs7449840).			A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.924A>G	CCDS4963.1																																																																																				0.378	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		C	62407128	T	C	62407128	2	2	181	1	0	0	0	0	0	0	0	1	8147	1538	54	4		4	KHDRBS2	6	62407128	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	26652299	62407128	108707939	38	12795											
EYS	346007	broad.mit.edu	37	chr6	66094367	66094367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcaattgctttctcacagTttttttcagtaaatcctgat	9	18	6	8	0	3	1	3	1	1	0	5	1	4	1	1	1	1	3	1	1	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:66094367T>A	ENST00000370621.3	-	8	1737	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	EYS_ENST00000503581.1_Missense_Mutation_p.N404I|EYS_ENST00000370616.2_Missense_Mutation_p.N404I|EYS_ENST00000370618.3_Missense_Mutation_p.N404I|EYS_ENST00000393380.2_Missense_Mutation_p.N404I|EYS_ENST00000342421.5_Missense_Mutation_p.N404I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	404	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTCACAGTTTTTTTCAGT	0.284																																						uc011dxu.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1210-1212)aAc>aTc		Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.							86	81	82					6																	66094367		2201	4293	6494	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66094367T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1211A>T	6.37:g.66094367T>A	ENSP00000359655:p.Asn404Ile					EYS_uc003peq.3_Missense_Mutation_p.N404I|EYS_uc003per.1_Missense_Mutation_p.N404I|EYS_uc021zbn.1_Missense_Mutation_p.N404I	p.N404I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			7	1749	-			404			EGF-like 5.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1211A>T		.	.	.	.	.	.	.	.	.	.	T	17.50	3.405941	0.62288	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	6.01	2.24	0.28232	.	.	.	.	.	T	0.13543	0.0328	M	0.62088	1.915	0.23542	N	0.997459	P;P;P	0.51240	0.577;0.943;0.906	B;B;B	0.43728	0.22;0.429;0.177	T	0.10823	-1.0613	9	0.29301	T	0.29	.	6.1027	0.20057	0.1207:0.1336:0.0:0.7458	.	404;404;404	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	404	ENSP00000424243:N404I;ENSP00000359655:N404I;ENSP00000359650:N404I;ENSP00000377042:N404I;ENSP00000341818:N404I;ENSP00000359652:N404I	ENSP00000341818:N404I	N	-	2	0	EYS	66151088	1.000000	0.71417	0.674000	0.29902	0.965000	0.64279	3.066000	0.50002	0.143000	0.18926	0.496000	0.49642	AAC		0.284	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	66094367	T	A	66094367	3	1	181	1	0	0	0	0	1	0	0	0	5332	1725	60	5	8329	5	EYS	6	66094367	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	3687239	66094367	105020700	39	12796											
NT5E	4907	broad.mit.edu	37	chr6	86203654	86203654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagttttccacaggaagtCactgccatggaagcttttct	10	13	8	10	0	3	0	2	0	1	0	4	2	4	2	2	2	2	2	2	2	3	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:86203654C>T	ENST00000257770.3	+	9	1706	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	NT5E_ENST00000369651.3_Missense_Mutation_p.H503Y	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	553					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CACAGGAAGTCACTGCCATGG	0.363																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1657-1659)Cac>Tac		Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	Pentoxifylline(DB00806)						99	102	101					6																	86203654		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86203654C>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1657C>T	6.37:g.86203654C>T	ENSP00000257770:p.His553Tyr					NT5E_uc010kbr.3_Missense_Mutation_p.H503Y	p.H553Y	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	2213	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	553					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1657C>T	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.266825	0.00259	.	.	ENSG00000135318	ENST00000257770;ENST00000369651	T;T	0.54866	0.57;0.55	5.79	0.857	0.19025	.	0.793515	0.12316	N	0.479717	T	0.14743	0.0356	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32322	-0.9911	10	0.08179	T	0.78	-2.4486	5.3506	0.16034	0.1296:0.435:0.0:0.4354	.	503;553	B3KQI8;P21589	.;5NTD_HUMAN	Y	553;503	ENSP00000257770:H553Y;ENSP00000358665:H503Y	ENSP00000257770:H553Y	H	+	1	0	NT5E	86260373	0.000000	0.05858	0.210000	0.23637	0.148000	0.21650	-0.061000	0.11693	0.072000	0.16694	-0.136000	0.14681	CAC		0.363	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			T	86203654	C	T	86203654	3	4	181	1	0	0	0	0	1	0	0	0	10693	826	29	3	1691	3	NT5E	6	86203654	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	20109287	86203654	84911413	40	12797											
ROS1	6098	broad.mit.edu	37	chr6	117715327	117715327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacttctcggactaaccaGttcatccatgatgaaataca	14	12	5	10	1	2	2	1	2	1	0	4	3	3	3	2	1	3	1	2	1	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:117715327G>C	ENST00000368508.3	-	10	1360	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	ROS1_ENST00000368507.3_Missense_Mutation_p.L397V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	388					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGACTAACCAGTTCATCCATG	0.323			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1162-1164)Ctg>Gtg		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							48	49	49					6																	117715327		2202	4298	6500	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117715327G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1162C>G	6.37:g.117715327G>C	ENSP00000357494:p.Leu388Val					ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	p.L388V	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	9	1361	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	388					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1162C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984660	0.18889	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91180	-2.8;-2.8	5.12	2.16	0.27623	.	1.037830	0.07651	N	0.932050	T	0.75796	0.3898	L	0.36672	1.1	0.37926	D	0.931858	B	0.27498	0.18	B	0.20767	0.031	T	0.71377	-0.4611	10	0.51188	T	0.08	.	6.3983	0.21624	0.1667:0.0:0.642:0.1912	.	388	P08922	ROS1_HUMAN	V	388;397	ENSP00000357494:L388V;ENSP00000357493:L397V	ENSP00000357493:L397V	L	-	1	2	ROS1	117822020	0.998000	0.40836	0.698000	0.30274	0.961000	0.63080	1.714000	0.37961	0.825000	0.34637	0.650000	0.86243	CTG		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117715327	G	C	117715327	3	2	181	1	0	0	0	0	1	0	0	0	13531	1020	36	5	6017	5	ROS1	6	117715327	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	31511673	117715327	53399740	41	12798											
CLVS2	134829	broad.mit.edu	37	chr6	123319281	123319281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcaggaagattctagTcctttttgctgccaattggg	8	14	11	8	0	1	1	0	0	1	1	2	2	2	2	2	3	2	2	2	3	4	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:123319281T>C	ENST00000275162.5	+	2	1694	c.359T>C	c.(358-360)gTc>gCc	p.V120A	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	120	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGATTCTAGTCCTTTTTGCT	0.483																																						uc003pzi.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(358-360)gTc>gCc		Homo sapiens clavesin 2 (CLVS2), mRNA.							53	49	51					6																	123319281		2203	4299	6502	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319281T>C	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.359T>C	6.37:g.123319281T>C	ENSP00000275162:p.Val120Ala						p.V120A	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			1	1228	+			120			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.359T>C	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920292	0.73098	.	.	ENSG00000146352	ENST00000275162	T	0.76578	-1.03	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.80616	2.505	0.80722	D	1	P	0.37122	0.583	B	0.43701	0.428	T	0.82329	-0.0511	10	0.66056	D	0.02	-2.7365	15.7462	0.77944	0.0:0.0:0.0:1.0	.	120	Q5SYC1	CLVS2_HUMAN	A	120	ENSP00000275162:V120A	ENSP00000275162:V120A	V	+	2	0	CLVS2	123360980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.106000	0.71511	2.307000	0.77673	0.528000	0.53228	GTC		0.483	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		C	123319281	T	C	123319281	3	2	181	1	0	0	0	0	1	0	0	0	3572	1667	58	4	361	4	CLVS2	6	123319281	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	5603954	123319281	47795786	42	12799											
KIAA1244	57221	broad.mit.edu	37	chr6	138638494	138638494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttactctttgagctgttGagagatgtgacgaaaacacc	12	12	10	7	1	1	4	0	3	1	1	1	7	1	4	1	0	3	2	1	0	3	4	rs377036338	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:138638494G>C	ENST00000251691.4	+	27	4618	c.4452G>C	c.(4450-4452)ttG>ttC	p.L1484F		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGAGCTGTTGAGAGATGTGA	0.468																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(4450-4452)ttG>ttC		Homo sapiens KIAA1244 (KIAA1244), mRNA.							91	81	84					6																	138638494		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138638494G>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4452G>C	6.37:g.138638494G>C	ENSP00000251691:p.Leu1484Phe						p.L1484F	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	26	4623	+	Breast(32;0.135)		1484						Missense_Mutation	SNP	ENST00000251691.4	37	c.4452G>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800125	0.50208	.	.	ENSG00000112379	ENST00000251691	T	0.09163	3.01	5.84	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.10594	0.0259	L	0.28274	0.84	0.46678	D	0.99915	D	0.76494	0.999	D	0.85130	0.997	T	0.10965	-1.0607	10	0.42905	T	0.14	-4.4059	10.0059	0.41957	0.2089:0.0:0.7911:0.0	.	1484	Q5TH69	BIG3_HUMAN	F	1484	ENSP00000251691:L1484F	ENSP00000251691:L1484F	L	+	3	2	KIAA1244	138680187	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.918000	0.40006	1.475000	0.48197	0.655000	0.94253	TTG		0.468	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		C	138638494	G	C	138638494	3	2	181	1	0	0	0	0	1	0	0	0	8217	1281	45	5	4558	5	KIAA1244	6	138638494	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	15319213	138638494	32476573	43	12800											
SP4	6671	broad.mit.edu	37	chr7	21469834	21469834	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagtatgcaagcacaTcagccagtagttctgaacgc	11	8	10	12	1	2	1	1	1	1	0	2	1	2	1	2	1	4	5	2	1	4	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:21469834T>A	ENST00000222584.3	+	3	1269	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	351					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAAGCACATCAGCCAGTAG	0.502																																						uc003sva.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1051-1053)Tca>Aca		Homo sapiens Sp4 transcription factor (SP4), mRNA.							99	78	85					7																	21469834		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469834T>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1051T>A	7.37:g.21469834T>A	ENSP00000222584:p.Ser351Thr					SP4_uc003svb.3_Missense_Mutation_p.S38T	p.S351T	NM_003112	NP_003103	Q02446	SP4_HUMAN			2	1232	+			351					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1051T>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.226095	0.01518	.	.	ENSG00000105866	ENST00000222584	T	0.09630	2.96	4.61	3.37	0.38596	.	0.335242	0.25683	N	0.028990	T	0.04407	0.0121	N	0.05078	-0.115	0.44985	D	0.998009	B	0.16166	0.016	B	0.14578	0.011	T	0.28004	-1.0057	10	0.06625	T	0.88	.	10.9119	0.47114	0.0:0.0:0.2292:0.7708	.	351	Q02446	SP4_HUMAN	T	351	ENSP00000222584:S351T	ENSP00000222584:S351T	S	+	1	0	SP4	21436359	0.865000	0.29922	1.000000	0.80357	0.997000	0.91878	0.747000	0.26290	2.070000	0.61991	0.533000	0.62120	TCA		0.502	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		A	21469834	T	A	21469834	3	1	181	1	0	0	0	0	1	0	0	0	14966	1435	50	5	1061	5	SP4	7	21469834	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		21469834	137668829	44	12801											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665015	95665015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagacgtcaataacttcGtggttggcagtgaggaaggt	10	9	16	6	3	1	2	1	1	0	1	2	4	1	3	0	5	1	2	0	5	3	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:95665015G>A	ENST00000324972.6	+	13	1559	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V439M|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V436M|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V439M|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V419M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V419M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	456					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAATAACTTCGTGGTTGGCAG	0.473																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1366-1368)Gtg>Atg		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							337	273	295					7																	95665015		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665015G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1366G>A	7.37:g.95665015G>A	ENSP00000320130:p.Val456Met					DYNC1I1_uc003uod.4_Missense_Mutation_p.V439M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V419M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V436M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V445M	p.V456M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		12	1643	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		456					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1366G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727467	0.69074	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.65815	0.992;0.995;0.995;0.992;0.995	P;D;D;P;P	0.66497	0.879;0.944;0.944;0.879;0.888	T	0.00234	-1.1893	10	0.30078	T	0.28	-0.4926	19.0933	0.93238	0.0:0.0:1.0:0.0	.	439;436;439;456;419	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	M	439;456;419;436;419;439	ENSP00000392337:V439M;ENSP00000320130:V456M;ENSP00000438377:V419M;ENSP00000398118:V436M;ENSP00000352348:V419M;ENSP00000412444:V439M	ENSP00000320130:V456M	V	+	1	0	DYNC1I1	95502951	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	9.657000	0.98554	2.830000	0.97506	0.585000	0.79938	GTG		0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95665015	G	A	95665015	3	1	181	1	0	0	0	0	1	0	0	0	4842	1145	40	1	1412	1	DYNC1I1	7	95665015	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	74195181	95665015	63473648	45	12802											
SLC12A9	56996	broad.mit.edu	37	chr7	100451836	100451836	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccatggccagcgagagctCacctctgctggcctaccggc	7	6	12	16	2	2	1	1	0	1	1	2	2	2	1	5	3	5	2	5	3	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:100451836C>G	ENST00000354161.3	+	2	142	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SLC12A9_ENST00000540482.1_Nonsense_Mutation_p.S6*|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Nonsense_Mutation_p.S6*|SLC12A9_ENST00000428758.1_Nonsense_Mutation_p.S6*|SLC12A9_ENST00000275729.3_Nonsense_Mutation_p.S6*	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	6					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632																																						uc003uwp.3																			0		p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(16-18)tCa>tGa		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.							31	35	33					7																	100451836		2202	4298	6500	SO:0001587	stop_gained	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100451836C>G	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.17C>G	7.37:g.100451836C>G	ENSP00000275730:p.Ser6*					SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.3_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	p.S6*	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			1	159	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		6					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Nonsense_Mutation	SNP	ENST00000354161.3	37	c.17C>G	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958191	0.92726	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675;ENST00000434158	.	.	.	4.53	4.53	0.55603	.	0.081206	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6117	0.56554	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000275729:S6X	S	+	2	0	SLC12A9	100289772	0.982000	0.34865	0.969000	0.41365	0.786000	0.44442	5.361000	0.66092	2.340000	0.79590	0.407000	0.27541	TCA		0.632	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		G	100451836	C	G	100451836	4	3	181	1	0	0	0	0	0	1	0	0	14390	838	29	5	19	5	SLC12A9	7	100451836	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	4786821	100451836	58686827	46	12803											
PLXNA4	91584	broad.mit.edu	37	chr7	131883269	131883269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggatgtaaccatccaCtaaagggctgcactccacgc	11	7	10	13	1	0	0	0	0	0	0	2	1	2	1	3	2	3	4	3	2	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:131883269C>T	ENST00000359827.3	-	13	3675	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V905M			Q9HCM2	PLXA4_HUMAN	plexin A4	905	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V905M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAACCATCCACTAAAGGGCTG	0.562																																						uc003vra.4																			2	Substitution - Missense(2)	p.V905M(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2713-2715)Gtg>Atg		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							71	71	71					7																	131883269		2021	4187	6208	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883269C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2713G>A	7.37:g.131883269C>T	ENSP00000352882:p.Val905Met						p.V905M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			12	2942	-			905			IPT/TIG 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2713G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931994	0.73442	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78126	-1.15;-1.15	5.42	5.42	0.78866	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.253872	0.40640	N	0.001047	T	0.73636	0.3612	N	0.14661	0.345	0.39259	D	0.964186	P	0.38617	0.64	P	0.51055	0.657	T	0.77236	-0.2662	10	0.62326	D	0.03	.	12.6834	0.56934	0.0:0.9253:0.0:0.0747	.	905	Q9HCM2	PLXA4_HUMAN	M	905	ENSP00000323194:V905M;ENSP00000352882:V905M	ENSP00000323194:V905M	V	-	1	0	PLXNA4	131533809	0.967000	0.33354	0.995000	0.50966	0.884000	0.51177	2.668000	0.46816	2.820000	0.97059	0.650000	0.86243	GTG		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131883269	C	T	131883269	3	4	181	1	0	0	0	0	1	0	0	0	12122	565	20	3	3051	3	PLXNA4	7	131883269	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	31431433	131883269	27255394	47	12804											
BLK	640	broad.mit.edu	37	chr8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacgccccgccactgcCgcccctggtgagtgattgcc	6	6	12	17	3	0	2	0	2	0	0	0	3	0	3	7	2	2	0	7	2	1	1	rs142352008	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:11400849C>T	ENST00000259089.4	+	2	708	c.116C>T	c.(115-117)cCg>cTg	p.P39L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	39					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													C|||	4	0.000798722	0	0.0014	5008	,	,		16043	0		0.003	False		,,,				2504	0					uc003wty.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(115-117)cCg>cTg		Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.		C	LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	38	44	42		116	5.5	0.9	8	dbSNP_134	42	30,8570	20.4+/-63.3	0,30,4270	yes	missense	BLK	NM_001715.2	98	0,35,6468	TT,TC,CC		0.3488,0.1135,0.2691	probably-damaging	39/506	11400849	35,12971	2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11400849C>T	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.116C>T	8.37:g.11400849C>T	ENSP00000259089:p.Pro39Leu						p.P39L	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	1	697	+			39					Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.116C>T	CCDS5982.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	11.99	1.802484	0.31869	0.001135	0.003488	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.76578	-1.03	5.54	5.54	0.83059	Src homology-3 domain (1);	0.000000	0.43416	D	0.000571	T	0.57533	0.2060	N	0.08118	0	0.80722	D	1	P	0.36412	0.552	B	0.24701	0.055	T	0.66148	-0.5996	10	0.66056	D	0.02	.	14.9922	0.71396	0.0:1.0:0.0:0.0	.	39	P51451	BLK_HUMAN	L	39	ENSP00000259089:P39L	ENSP00000259089:P39L	P	+	2	0	BLK	11438258	0.984000	0.35163	0.878000	0.34440	0.012000	0.07955	3.424000	0.52764	2.591000	0.87537	0.555000	0.69702	CCG		0.532	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			T	11400849	C	T	11400849	3	4	181	1	0	0	0	0	1	0	0	0	1444	652	23	2	118	2	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		11400849	134963173	48	12805											
GRHL2	79977	broad.mit.edu	37	chr8	102585963	102585963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggggagggccccatgAcctacctcaacaaaggacag	13	3	13	12	0	1	1	1	1	0	0	1	3	1	3	4	4	3	1	4	4	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:102585963A>T	ENST00000251808.3	+	6	1140	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	GRHL2_ENST00000395927.1_Missense_Mutation_p.T252S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	268					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGCCCCATGACCTACCTCAA	0.532																																						uc010mbu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(802-804)Acc>Tcc		Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.							83	69	74					8																	102585963		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585963A>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.802A>T	8.37:g.102585963A>T	ENSP00000251808:p.Thr268Ser					GRHL2_uc011lhi.1_Missense_Mutation_p.T268S	p.T268S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		5	1132	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		268					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.802A>T	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971083	0.53614	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26067	1.76;1.76	5.8	5.8	0.92144	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.45228	1.405	0.80722	D	1	D;B	0.76494	0.999;0.423	D;B	0.83275	0.996;0.31	T	0.19778	-1.0295	10	0.42905	T	0.14	-32.3406	16.1475	0.81580	1.0:0.0:0.0:0.0	.	268;268	B4DL28;Q6ISB3	.;GRHL2_HUMAN	S	268;252;268	ENSP00000251808:T268S;ENSP00000379260:T252S	ENSP00000251808:T268S	T	+	1	0	GRHL2	102655139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.213000	0.71641	0.528000	0.53228	ACC		0.532	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		T	102585963	A	T	102585963	3	4	181	1	0	0	0	0	1	0	0	0	6764	275	10	5	824	5	GRHL2	8	102585963	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	91185114	102585963	43778059	49	12806											
FER1L6	654463	broad.mit.edu	37	chr8	124992825	124992825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaaggtgtgtcattcagggGcagaatcttggtagaaattg	11	11	15	4	0	3	2	2	0	1	2	3	3	3	3	0	5	0	2	0	5	4	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:124992825G>A	ENST00000522917.1	+	11	1390	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	FER1L6_ENST00000399018.1_Missense_Mutation_p.G395D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	395						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTCAGGGGCAGAATCTTG	0.507											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yqw.3																			0		p.R394K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1183-1185)gGc>gAc		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							163	163	163					8																	124992825		1887	4117	6004	SO:0001583	missense	654463					integral to membrane		g.chr8:124992825G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1184G>A	8.37:g.124992825G>A	ENSP00000428280:p.Gly395Asp		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538		p.G395D	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		10	1390	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		395						Missense_Mutation	SNP	ENST00000522917.1	37	c.1184G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044667	0.75732	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.92647	-3.08;-3.08	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.159868	0.40385	U	0.001119	D	0.96824	0.8963	M	0.88377	2.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.97237	0.9888	10	0.87932	D	0	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	395	Q2WGJ9	FR1L6_HUMAN	D	395	ENSP00000428280:G395D;ENSP00000381982:G395D	ENSP00000381982:G395D	G	+	2	0	FER1L6	125062006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.252000	0.58785	2.607000	0.88179	0.655000	0.94253	GGC		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	124992825	G	A	124992825	3	1	181	1	0	0	0	0	1	0	0	0	5815	1203	42	3	1222	3	FER1L6	8	124992825	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	22406862	124992825	21371197	50	12807											
CHRAC1	54108	broad.mit.edu	37	chr8	141525277	141525277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaaatgcttaaagaGgaaaagagggaagaagatga	20	6	12	3	0	0	6	0	2	0	4	0	8	0	8	1	2	2	1	1	2	9	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:141525277G>A	ENST00000220913.5	+	3	529	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	109					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCTTAAAGAGGAAAAGAGGG	0.353																																						uc003yvl.3																			0				ovary(2)	2						c.(325-327)gaG>gaA		Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.							109	106	107					8																	141525277		2203	4300	6503	SO:0001819	synonymous_variant	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525277G>A	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.327G>A	8.37:g.141525277G>A						CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	p.E109E	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		2	529	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		109						Silent	SNP	ENST00000220913.5	37	c.327G>A	CCDS6379.1	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969235	0.18659	.	.	ENSG00000104472	ENST00000519618	.	.	.	5.41	3.28	0.37604	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	-12.4616	7.1048	0.25358	0.2181:0.1458:0.6362:0.0	.	.	.	.	K	75	.	.	R	+	2	0	CHRAC1	141594459	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.889000	0.28282	1.269000	0.44280	-0.244000	0.11960	AGG		0.353	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		A	141525277	G	A	141525277	2	1	181	1	0	0	0	0	0	0	0	1	3371	991	35	3		3	CHRAC1	8	141525277	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	16532452	141525277	4838745	51	12808											
TOPORS	10210	broad.mit.edu	37	chr9	32543467	32543467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaactgataaattcatgTataaaatgctcagttcgatt	16	13	6	6	1	2	1	2	1	0	0	3	2	2	1	0	0	2	4	0	0	7	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:32543467T>C	ENST00000360538.2	-	3	1172	c.1056A>G	c.(1054-1056)atA>atG	p.I352M	TOPORS_ENST00000379858.1_Missense_Mutation_p.I287M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	352	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATTCATGTATAAAATGCT	0.398																																						uc003zrb.3																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1054-1056)atA>atG		Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.							59	61	60					9																	32543467		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543467T>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1056A>G	9.37:g.32543467T>C	ENSP00000353735:p.Ile352Met					TOPORS_uc003zrc.3_Missense_Mutation_p.I287M	p.I352M	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	2	1248	-			352			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1056A>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	6.177	0.400829	0.11696	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16196	2.36;2.37	5.93	3.47	0.39725	.	0.000000	0.56097	D	0.000022	T	0.15003	0.0362	L	0.56199	1.76	0.37862	D	0.929746	B	0.20780	0.048	B	0.14023	0.01	T	0.07966	-1.0745	10	0.54805	T	0.06	-23.2643	5.6734	0.17735	0.0:0.1517:0.1456:0.7027	.	352	Q9NS56	TOPRS_HUMAN	M	352;287	ENSP00000353735:I352M;ENSP00000369187:I287M	ENSP00000353735:I352M	I	-	3	3	TOPORS	32533467	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	0.836000	0.27545	1.067000	0.40740	-0.256000	0.11100	ATA		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		C	32543467	T	C	32543467	3	2	181	1	0	0	0	0	1	0	0	0	16367	1628	57	4	2085	4	TOPORS	9	32543467	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		32543467	108669964	52	12809											
ZMYND19	116225	broad.mit.edu	37	chr9	140477434	140477434	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accgcactgcagcacacccaCctgcttctcaatcactgtgc	9	8	6	18	1	2	0	2	0	1	0	3	0	2	0	3	0	4	4	3	0	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:140477434C>T	ENST00000298585.2	-	5	767		c.e5+1			NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCACACCCACCTGCTTCTCA	0.587																																						uc004cno.1																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.e5+1		Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.							209	166	181					9																	140477434		2203	4300	6503	SO:0001630	splice_region_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140477434C>T	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.540+1G>A	9.37:g.140477434C>T							p.Q180_splice	NM_138462	NP_612471	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	5	762	-	all_cancers(76;0.106)		180					Q5T366	Splice_Site	SNP	ENST00000298585.2	37	c.540_splice	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932920	0.73442	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0111	0.80404	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYND19	139597255	1.000000	0.71417	0.995000	0.50966	0.762000	0.43233	7.697000	0.84279	2.371000	0.80710	0.561000	0.74099	.		0.587	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462	Intron	T	140477434	C	T	140477434	5	4	181	1	0	0	0	0	0	0	1	0	17707	521	18	3	150	3	ZMYND19	9	140477434	Splice_Site	SNP	C	TCGA-26-6174-01A-21D-1845-08	107933967	140477434	735997	53	12810											
ITIH2	3698	broad.mit.edu	37	chr10	7759687	7759687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaggaggtgaagtggaGgaagctgggctcctatgagc	10	7	16	8	0	0	2	0	2	0	0	1	5	1	5	2	5	3	2	2	5	4	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:7759687G>T	ENST00000358415.4	+	6	732	c.566G>T	c.(565-567)aGg>aTg	p.R189M	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.R178M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	189					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522																																						uc001ijs.3																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(565-567)aGg>aTg		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.							160	156	157					10																	7759687		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759687G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.566G>T	10.37:g.7759687G>T	ENSP00000351190:p.Arg189Met						p.R189M	NM_002216	NP_002207	P19823	ITIH2_HUMAN			5	728	+			189					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.566G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874439	0.91664	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.32753	4.3;1.44;4.31	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74957	-0.3487	10	0.87932	D	0	-24.3825	19.0542	0.93056	0.0:0.0:1.0:0.0	.	189	P19823	ITIH2_HUMAN	M	189;164;178	ENSP00000351190:R189M;ENSP00000388826:R164M;ENSP00000368906:R178M	ENSP00000351190:R189M	R	+	2	0	ITIH2	7799693	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.417000	0.97391	2.484000	0.83849	0.563000	0.77884	AGG		0.522	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7759687	G	T	7759687	3	4	181	1	0	0	0	0	1	0	0	0	7904	1000	35	5	588	5	ITIH2	10	7759687	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		7759687	127775060	54	12811											
CTNNA3	29119	broad.mit.edu	37	chr10	68139038	68139038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatagcacccgcagcaCggtctaaattatcagcatcc	11	9	7	14	2	3	1	1	1	2	0	4	1	4	1	2	1	3	4	2	1	4	3	rs139378888		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:68139038C>T	ENST00000433211.2	-	12	1778	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R535H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCCGCAGCACGGTCTAAATT	0.458													C|||	1	0.000199681	0	0	5008	,	,		18003	0		0.001	False		,,,				2504	0					uc009xpn.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1603-1605)cGt>cAt		Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	124	122	123		1604,1604	5.8	1	10	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	535/896,535/896	68139038	2,13004	2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68139038C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1604G>A	10.37:g.68139038C>T	ENSP00000389714:p.Arg535His					CTNNA3_uc001jmw.2_Missense_Mutation_p.R535H	p.R535H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN			11	1727	-			535		R -> C (in dbSNP:rs41274090).				Missense_Mutation	SNP	ENST00000433211.2	37	c.1604G>A	CCDS7269.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.7	4.322256	0.81580	0.0	2.33E-4	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37584	1.19;1.19	5.77	5.77	0.91146	.	0.000000	0.53938	D	0.000050	T	0.57621	0.2066	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.54166	-0.8334	10	0.49607	T	0.09	-9.4648	17.477	0.87661	0.0:1.0:0.0:0.0	.	535	Q9UI47	CTNA3_HUMAN	H	535	ENSP00000389714:R535H;ENSP00000362849:R535H	ENSP00000362849:R535H	R	-	2	0	CTNNA3	67809044	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	6.068000	0.71201	2.728000	0.93425	0.650000	0.86243	CGT		0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	68139038	C	T	68139038	3	4	181	1	0	0	0	0	1	0	0	0	4014	536	19	1	1111	1	CTNNA3	10	68139038	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	60379351	68139038	67395709	55	12812											
PTEN	5728	broad.mit.edu	37	chr10	89711915	89711915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcgctatgtgtattattAtagctacctgttaaagaatc	12	14	9	6	1	0	1	0	0	0	1	1	2	0	1	1	1	2	4	1	1	9	7	rs397515374		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:89711915A>G	ENST00000371953.3	+	6	1890	c.533A>G	c.(532-534)tAt>tGt	p.Y178C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	178	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y178del(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTATTATTATAGCTACCTG	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		58	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(2)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178del(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.G165_K342del(1)|p.Y178fs*5(1)	prostate(16)|central_nervous_system(13)|skin(9)|endometrium(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(532-534)tAt>tGt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141	143	142					10																	89711915		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711915A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.533A>G	10.37:g.89711915A>G	ENSP00000361021:p.Tyr178Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y178C	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1565	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	178			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.533A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628484	0.87560	.	.	ENSG00000171862	ENST00000371953	D	0.98835	-5.17	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99338	1.0911	9	.	.	.	-3.0371	16.0449	0.80714	1.0:0.0:0.0:0.0	.	178	P60484	PTEN_HUMAN	C	178	ENSP00000361021:Y178C	.	Y	+	2	0	PTEN	89701895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.862000	0.92283	2.198000	0.70561	0.482000	0.46254	TAT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89711915	A	G	89711915	3	3	181	1	0	0	0	0	1	0	0	0	12738	449	16	4	555	4	PTEN	10	89711915	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	21572877	89711915	45822832	56	12813											
IFIT2	3433	broad.mit.edu	37	chr10	91066921	91066921	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgtaaaaataaaccAgaaatcaagggagaaagaaa	23	4	11	3	0	1	4	1	0	0	4	1	5	1	4	1	2	1	1	1	2	9	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:91066921A>T	ENST00000371826.3	+	2	1377	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	403					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAATAAACCAGAAATCAAGG	0.398																																						uc009xts.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1207-1209)cAg>cTg		Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.							99	91	94					10																	91066921		1836	4101	5937	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066921A>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1208A>T	10.37:g.91066921A>T	ENSP00000360891:p.Gln403Leu					LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	p.Q403L	NM_001547	NP_001538	P09913	IFIT2_HUMAN			1	1383	+		Colorectal(252;0.0161)	403					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1208A>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755947	0.31137	.	.	ENSG00000119922	ENST00000371826	T	0.13901	2.55	4.58	2.18	0.27775	Tetratricopeptide-like helical (1);	2.128780	0.02559	U	0.096575	T	0.14874	0.0359	L	0.54323	1.7	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.25328	-1.0135	10	0.33141	T	0.24	-0.2251	6.2808	0.21007	0.7119:0.1348:0.1533:0.0	.	403	P09913	IFIT2_HUMAN	L	403	ENSP00000360891:Q403L	ENSP00000360891:Q403L	Q	+	2	0	IFIT2	91056901	0.000000	0.05858	0.002000	0.10522	0.403000	0.30841	-0.637000	0.05459	0.473000	0.27368	0.533000	0.62120	CAG		0.398	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		T	91066921	A	T	91066921	3	4	181	1	0	0	0	0	1	0	0	0	7523	188	7	5	1214	5	IFIT2	10	91066921	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	1355006	91066921	44467826	57	12814											
SLC22A18	5002	broad.mit.edu	37	chr11	2939241	2939241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccccgggccagtgtgttcGacctgaaggccatcgcctcc	5	7	12	17	3	0	1	0	1	0	0	3	2	1	1	7	2	0	1	7	2	1	1	rs368091563		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:2939241G>A	ENST00000380574.1	+	7	1110	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SLC22A18_ENST00000312221.5_Missense_Mutation_p.D227N|SLC22A18_ENST00000347936.2_Missense_Mutation_p.D227N|SLC22A18_ENST00000449793.2_Missense_Mutation_p.D129N|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	227				D -> E (in Ref. 4; AAB82727 and 6; AAC23505). {ECO:0000305}.	drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGTGTTCGACCTGAAGGC	0.672																																						uc001lwx.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(679-681)Gac>Aac		Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.		G	ASN/ASP,ASN/ASP	0,4404		0,0,2202	57	53	54		679,679	3	1	11		54	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SLC22A18	NM_002555.5,NM_183233.2	23,23	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	227/425,227/425	2939241	1,13001	2202	4299	6501	SO:0001583	missense	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2939241G>A	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"Solute carriers"	10964	protein-coding gene	gene with protein product		602631	"solute carrier family 22 (organic cation transporter), member 1-like"	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.679G>A	11.37:g.2939241G>A	ENSP00000369948:p.Asp227Asn					SLC22A18_uc001lwy.3_Missense_Mutation_p.D227N	p.D227N	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	6	897	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	227	D -> E (in Ref. 4; AAB82727 and 6; AAC23505).				O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	c.679G>A	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	G	3.116	-0.181686	0.06340	0.0	1.16E-4	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.80566	0.37;0.37;-1.39;0.37	3.98	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.136641	0.47093	D	0.000249	T	0.59418	0.2192	L	0.28192	0.835	0.28623	N	0.908086	B;B	0.32620	0.378;0.308	B;B	0.22753	0.015;0.041	T	0.47923	-0.9079	10	0.13853	T	0.58	-16.4706	5.6358	0.17536	0.2265:0.0:0.7735:0.0	.	129;227	E9PRM7;Q96BI1	.;S22AI_HUMAN	N	227;227;129;227	ENSP00000307859:D227N;ENSP00000311139:D227N;ENSP00000392072:D129N;ENSP00000369948:D227N	ENSP00000311139:D227N	D	+	1	0	SLC22A18	2895817	0.957000	0.32711	0.989000	0.46669	0.078000	0.17371	1.805000	0.38883	1.924000	0.55735	0.484000	0.47621	GAC		0.672	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		A	2939241	G	A	2939241	3	1	181	1	0	0	0	0	1	0	0	0	14449	1058	37	2	701	2	SLC22A18	11	2939241	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		2939241	132067275	58	12815											
OR4C13	283092	broad.mit.edu	37	chr11	49974296	49974296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaacattttttcagaggtGttgaggtcatcctacttact	10	15	9	7	0	2	3	2	1	0	2	3	4	3	3	1	2	3	1	1	2	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:49974296G>T	ENST00000555099.1	+	1	354	c.322G>T	c.(322-324)Gtt>Ttt	p.V108F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTCAGAGGTGTTGAGGTCAT	0.423																																						uc010rhz.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(322-324)Gtt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.							113	110	111					11																	49974296		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974296G>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.322G>T	11.37:g.49974296G>T	ENSP00000452277:p.Val108Phe						p.V108F	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			0	354	+			108					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.322G>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	4.187	0.033258	0.08101	.	.	ENSG00000258817	ENST00000555099	T	0.01397	4.94	2.95	0.968	0.19680	GPCR, rhodopsin-like superfamily (1);	0.641843	0.13684	N	0.369963	T	0.02267	0.0070	M	0.64170	1.965	0.09310	N	1	B	0.33212	0.402	B	0.40864	0.342	T	0.42015	-0.9476	9	.	.	.	.	2.5718	0.04797	0.265:0.0:0.502:0.233	.	108	Q8NGP0	OR4CD_HUMAN	F	108	ENSP00000452277:V108F	.	V	+	1	0	OR4C13	49930872	0.000000	0.05858	0.096000	0.21009	0.082000	0.17680	-0.406000	0.07187	0.110000	0.17919	0.195000	0.17529	GTT		0.423	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		T	49974296	G	T	49974296	3	4	181	1	0	0	0	0	1	0	0	0	11047	1377	48	5	324	5	OR4C13	11	49974296	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	47035055	49974296	85032220	59	12816											
OR5L1	219437	broad.mit.edu	37	chr11	55579768	55579768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgacaaagtggccaccGtgttctacacagtcgtgatt	10	11	10	10	2	1	2	0	2	1	0	2	2	1	2	2	1	2	2	2	1	2	3	rs541042751	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:55579768G>A	ENST00000333973.2	+	1	915	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGTGGCCACCGTGTTCTACAC	0.458													N|||	21	0.00419329	0	0	5008	,	,		15910	0		0	False		,,,				2504	0.0215					uc001nhw.1																			0		p.T275N(2)|p.V276V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(826-828)Gtg>Atg		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							78	71	74					11																	55579768		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579768G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.826G>A	11.37:g.55579768G>A	ENSP00000335529:p.Val276Met						p.V276M	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			0	826	+		all_epithelial(135;0.208)	276					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.826G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	12.03	1.815520	0.32145	.	.	ENSG00000186117	ENST00000333973	T	0.00274	8.35	4.12	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.160216	0.30676	N	0.009113	T	0.00552	0.0018	M	0.71296	2.17	0.24399	N	0.994714	D	0.89917	1.0	D	0.79784	0.993	T	0.39881	-0.9592	10	0.72032	D	0.01	-40.0454	11.435	0.50062	0.0:0.3523:0.6477:0.0	.	276	Q8NGL2	OR5L1_HUMAN	M	276	ENSP00000335529:V276M	ENSP00000335529:V276M	V	+	1	0	OR5L1	55336344	0.538000	0.26394	0.314000	0.25224	0.364000	0.29643	0.790000	0.26900	0.702000	0.31825	0.428000	0.28381	GTG		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		A	55579768	G	A	55579768	3	1	181	1	0	0	0	0	1	0	0	0	11170	1145	40	1	828	1	OR5L1	11	55579768	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	5605472	55579768	79426748	60	12817											
OR5M9	390162	broad.mit.edu	37	chr11	56230082	56230082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccattttgccctgctctaCggattcctcagtgggtctcc	5	13	8	15	1	3	0	1	0	2	0	5	1	4	1	4	2	3	1	4	2	1	4	rs148447943	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:56230082C>T	ENST00000279791.1	-	1	795	c.796G>A	c.(796-798)Gta>Ata	p.V266I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCTGCTCTACGGATTCCTCA	0.468																																						uc010rjj.2																			0		p.S265F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(796-798)Gta>Ata		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.		C	ILE/VAL	0,4402		0,0,2201	83	72	75		796	-0.7	0.1	11	dbSNP_134	75	3,8589	3.0+/-9.4	0,3,4293	yes	missense	OR5M9	NM_001004743.1	29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	266/311	56230082	3,12991	2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230082C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.796G>A	11.37:g.56230082C>T	ENSP00000279791:p.Val266Ile					OR8U8_uc001nit.2_Intron	p.V266I	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	796	-	Esophageal squamous(21;0.00448)		266					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.796G>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	2.116	-0.402686	0.04865	0.0	3.49E-4	ENSG00000150269	ENST00000279791	T	0.00115	8.71	4.39	-0.712	0.11226	GPCR, rhodopsin-like superfamily (1);	0.186675	0.25842	N	0.027949	T	0.00109	0.0003	L	0.50333	1.59	0.09310	N	1	P	0.34522	0.455	B	0.34138	0.176	T	0.36768	-0.9734	10	0.59425	D	0.04	-12.5575	4.492	0.11819	0.1119:0.5683:0.1478:0.1721	.	266	Q8NGP3	OR5M9_HUMAN	I	266	ENSP00000279791:V266I	ENSP00000279791:V266I	V	-	1	0	OR5M9	55986658	0.011000	0.17503	0.052000	0.19188	0.010000	0.07245	0.129000	0.15830	-0.144000	0.11314	-1.228000	0.01579	GTA		0.468	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		T	56230082	C	T	56230082	3	4	181	1	0	0	0	0	1	0	0	0	11177	536	19	1	138	1	OR5M9	11	56230082	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	650314	56230082	78776434	61	12818											
CTTN	2017	broad.mit.edu	37	chr11	70266538	70266538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggaggaaaatttggtGtgcagacagacagacaagac	14	8	14	5	0	0	4	0	0	0	4	0	6	0	6	0	4	1	2	0	4	3	2	rs567039880		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:70266538G>A	ENST00000301843.8	+	10	918	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	CTTN_ENST00000538675.1_5'Flank|CTTN_ENST00000346329.3_Missense_Mutation_p.V238M|CTTN_ENST00000376561.3_Missense_Mutation_p.V238M	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	238					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAAATTTGGTGTGCAGACAGA	0.458																																						uc001opv.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(712-714)Gtg>Atg		Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.							183	166	172					11																	70266538		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70266538G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.712G>A	11.37:g.70266538G>A	ENSP00000301843:p.Val238Met					CTTN_uc001opu.3_Missense_Mutation_p.V238M|CTTN_uc001opw.4_Missense_Mutation_p.V238M|CTTN_uc010rqm.2_5'UTR|CTTN_uc001opx.3_5'Flank	p.V238M	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	9	918	+			238					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.712G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962996	0.74016	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.48201	0.94;1.01;0.82	5.13	3.24	0.37175	.	0.000000	0.64402	D	0.000002	T	0.71022	0.3291	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.73496	-0.3964	10	0.72032	D	0.01	-38.6116	10.1073	0.42541	0.0715:0.0:0.7918:0.1367	.	238;238;238	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	M	238	ENSP00000317189:V238M;ENSP00000301843:V238M;ENSP00000365745:V238M	ENSP00000301843:V238M	V	+	1	0	CTTN	69944186	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.227000	0.78070	0.542000	0.28846	-0.150000	0.13652	GTG		0.458	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		A	70266538	G	A	70266538	3	1	181	1	0	0	0	0	1	0	0	0	4044	1377	48	3	742	3	CTTN	11	70266538	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	14036456	70266538	64739978	62	12819											
APLP2	334	broad.mit.edu	37	chr11	129992408	129992408	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattactcatgatgtcaaaGgtaaccccatgtagagccat	15	10	7	9	0	2	2	2	1	0	1	2	2	2	2	3	1	3	2	3	1	5	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:129992408G>A	ENST00000263574.5	+	6	994	c.922G>A	c.(922-924)Gct>Act	p.A308T	APLP2_ENST00000543137.1_Splice_Site_p.A215T|APLP2_ENST00000338167.5_Splice_Site_p.A308T|APLP2_ENST00000539648.1_Splice_Site_p.V152I|APLP2_ENST00000278756.7_Splice_Site_p.A318T|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000528499.1_Splice_Site_p.V308I	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	308	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATGTCAAAGGTAACCCCAT	0.443																																						uc010sby.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e6+1		Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.							86	77	80					11																	129992408		2201	4297	6498	SO:0001630	splice_region_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129992408G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.922+1G>A	11.37:g.129992408G>A						APLP2_uc001qfp.3_Splice_Site_p.A308_splice|APLP2_uc001qfq.3_Splice_Site_p.V308_splice|APLP2_uc010sbz.2_Splice_Site_p.V152_splice|APLP2_uc001qfr.3_Splice_Site_p.V130_splice|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Splice_Site_p.A318_splice|APLP2_uc001qfv.3_Splice_Site_p.V255_splice	p.A308_splice	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	6	1079	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	308			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.922_splice	CCDS8486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.85|11.85	1.761927|1.761927	0.31228|0.31228	.|.	.|.	ENSG00000084234|ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137|ENST00000528499;ENST00000539648	T;T;T;T|T;T	0.57907|0.45276	0.37;0.37;0.37;0.37|0.9;0.9	5.47|5.47	5.47|5.47	0.80525|0.80525	Proteinase inhibitor I2, Kunitz metazoa (4);|.	0.489617|.	0.22320|.	N|.	0.061608|.	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.45581|0.45581	1.43|1.43	0.19945|0.19945	N|N	0.999947|0.999947	B;B|B;B	0.15473|0.02656	0.008;0.013|0.0;0.0	B;B|B;B	0.09377|0.04013	0.002;0.004|0.001;0.001	T|T	0.11036|0.11036	-1.0604|-1.0604	10|9	0.49607|0.37606	T|T	0.09|0.19	-9.8045|-9.8045	7.4189|7.4189	0.27061|0.27061	0.0838:0.0:0.7374:0.1788|0.0838:0.0:0.7374:0.1788	.|.	308;308|152;302	Q06481;Q06481-3|F5H845;B4E3I5	APLP2_HUMAN;.|.;.	T|I	308;308;318;215|308;152	ENSP00000263574:A308T;ENSP00000345444:A308T;ENSP00000278756:A318T;ENSP00000444122:A215T|ENSP00000435914:V308I;ENSP00000443728:V152I	ENSP00000263574:A308T|ENSP00000435914:V308I	A|V	+|+	1|1	0|0	APLP2|APLP2	129497618|129497618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.188000|0.188000	0.23474|0.23474	3.717000|3.717000	0.54911|0.54911	2.562000|2.562000	0.86427|0.86427	0.561000|0.561000	0.74099|0.74099	GCT|GTT		0.443	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	Missense_Mutation	A	129992408	G	A	129992408	5	1	181	1	0	0	0	0	0	0	1	0	779	1014	35	3	944	3	APLP2	11	129992408	Splice_Site	SNP	G	TCGA-26-6174-01A-21D-1845-08	59725870	129992408	5014108	63	12820											
KRT79	338785	broad.mit.edu	37	chr12	53217702	53217702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagcctccccctgcAgcctctggatagtgcgggtg	5	9	12	15	1	2	0	1	0	1	0	3	1	3	1	4	2	5	2	4	2	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:53217702A>G	ENST00000330553.5	-	6	1149	c.1115T>C	c.(1114-1116)cTg>cCg	p.L372P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	372	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCCCTGCAGCCTCTGGAT	0.617																																						uc001sbb.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1114-1116)cTg>cCg		Homo sapiens keratin 79 (KRT79), mRNA.							67	56	60					12																	53217702		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53217702A>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1115T>C	12.37:g.53217702A>G	ENSP00000328358:p.Leu372Pro					KRT79_uc001sba.3_Missense_Mutation_p.L143P	p.L372P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			5	1148	-			372			Coil 2.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1115T>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019265	0.75275	.	.	ENSG00000185640	ENST00000330553	D	0.82619	-1.63	4.03	4.03	0.46877	Filament (1);	0.000000	0.34725	N	0.003728	D	0.92665	0.7669	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94221	0.7467	10	0.87932	D	0	.	13.1208	0.59325	1.0:0.0:0.0:0.0	.	372	Q5XKE5	K2C79_HUMAN	P	372	ENSP00000328358:L372P	ENSP00000328358:L372P	L	-	2	0	KRT79	51503969	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.383000	0.90157	2.048000	0.60808	0.448000	0.29417	CTG		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		G	53217702	A	G	53217702	3	3	181	1	0	0	0	0	1	0	0	0	8492	188	7	4	508	4	KRT79	12	53217702	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		53217702	80634193	64	12821											
PTPRB	5787	broad.mit.edu	37	chr12	70974843	70974843	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctccacaaccacttgtcGggaagagatccctccactca	10	8	6	17	1	1	1	1	0	0	1	6	3	5	2	5	1	1	0	5	1	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:70974843G>A	ENST00000261266.5	-	8	1926	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R543*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R850*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.R851*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R851*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R543*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R633*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	633	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R633R(1)|p.R851R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACTTGTCGGGAAGAGATC	0.468																																						uc001swb.4																			2	Substitution - coding silent(2)	p.R633R(2)|p.R851R(1)	central_nervous_system(2)	breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1897-1899)Cga>Tga		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							96	96	96					12																	70974843		1931	4144	6075	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974843G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1897C>T	12.37:g.70974843G>A	ENSP00000261266:p.Arg633*					PTPRB_uc010sto.2_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R730*	p.R633*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1927	-	Renal(347;0.236)		633			Fibronectin type-III 7.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.1897C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	40	7.998249	0.98602	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.	.	.	5.86	5.86	0.93980	.	0.179172	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	13.141	0.59434	0.0:0.0:0.7363:0.2637	.	.	.	.	X	851;543;851;851;633;543;633;850;730	.	ENSP00000261266:R633X	R	-	1	2	PTPRB	69261110	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.115000	0.57865	2.781000	0.95711	0.650000	0.86243	CGA		0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			A	70974843	G	A	70974843	4	1	181	1	0	0	0	0	0	1	0	0	12796	1124	39	2	4196	2	PTPRB	12	70974843	Nonsense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	17757141	70974843	62877052	65	12822											
ANO4	121601	broad.mit.edu	37	chr12	101493475	101493475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgaatgcctatggacTcttcgatgaatacttagaaa	13	11	9	8	2	1	3	0	2	1	1	2	6	1	4	2	1	2	0	2	1	6	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:101493475T>C	ENST00000392977.3	+	22	2336	c.2126T>C	c.(2125-2127)cTc>cCc	p.L709P	ANO4_ENST00000550015.1_Missense_Mutation_p.L229P|ANO4_ENST00000392979.3_Missense_Mutation_p.L674P|ANO4_ENST00000299222.9_Missense_Mutation_p.L229P			Q32M45	ANO4_HUMAN	anoctamin 4	709					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCTATGGACTCTTCGATGAA	0.333										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2125-2127)cTc>cCc		Homo sapiens anoctamin 4 (ANO4), mRNA.							81	80	81					12																	101493475		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101493475T>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2126T>C	12.37:g.101493475T>C	ENSP00000376703:p.Leu709Pro	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	p.L709P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			21	2698	+			709					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2126T>C		.	.	.	.	.	.	.	.	.	.	T	22.8	4.334896	0.81801	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	D	0.83289	0.5222	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85912	0.1441	10	0.87932	D	0	.	16.1357	0.81487	0.0:0.0:0.0:1.0	.	229;709;674	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	P	674;229;709;229	ENSP00000376705:L674P;ENSP00000299222:L229P;ENSP00000376703:L709P;ENSP00000450192:L229P	ENSP00000299222:L229P	L	+	2	0	ANO4	100017606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.588000	0.82629	2.212000	0.71576	0.528000	0.53228	CTC		0.333	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		C	101493475	T	C	101493475	3	2	181	1	0	0	0	0	1	0	0	0	699	1551	54	4	2099	4	ANO4	12	101493475	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	30518632	101493475	32358420	66	12823											
RNF17	56163	broad.mit.edu	37	chr13	25373533	25373533	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttccctcattatttagGtgcaagaatatttgtcagca	10	17	7	7	0	2	1	2	0	0	1	3	1	3	1	1	1	2	3	1	1	5	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:25373533G>A	ENST00000255324.5	+	12	1452	c.1400G>A	c.(1399-1401)gGt>gAt	p.G467D	RNF17_ENST00000381921.1_Splice_Site_p.G467D|RNF17_ENST00000255325.6_Splice_Site_p.G467D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CATTATTTAGGTGCAAGAATA	0.328																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e12-1		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							107	113	111					13																	25373533		2203	4297	6500	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25373533G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1400-1G>A	13.37:g.25373533G>A						RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice	p.G467_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	12	1441	+		Lung SC(185;0.0225)|Breast(139;0.077)	467		G -> S (in dbSNP:rs9581180).			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1400_splice	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223053	0.79464	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.18810	2.19;2.19;2.19	5.41	5.41	0.78517	Maternal tudor protein (1);	0.000000	0.64402	D	0.000007	T	0.36635	0.0974	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01456	-1.1350	9	.	.	.	.	18.1303	0.89599	0.0:0.0:1.0:0.0	.	467;467	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	D	467;467;326;468	ENSP00000255324:G467D;ENSP00000371346:G467D;ENSP00000255325:G468D	.	G	+	2	0	RNF17	24271533	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.477000	0.73591	2.812000	0.96745	0.557000	0.71058	GGT		0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Missense_Mutation	A	25373533	G	A	25373533	5	1	181	1	0	0	0	0	0	0	1	0	13461	1275	44	3	1446	3	RNF17	13	25373533	Splice_Site	SNP	G	TCGA-26-6174-01A-21D-1845-08		25373533	89796345	67	12824											
BRCA2	675	broad.mit.edu	37	chr13	32913746	32913746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctaacagctattcctacCattctgatgaggtatataat	12	15	6	8	0	2	2	0	2	2	0	3	2	3	2	2	1	3	2	2	1	6	8	rs80358749		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:32913746C>A	ENST00000380152.3	+	11	5487	c.5254C>A	c.(5254-5256)Cat>Aat	p.H1752N	BRCA2_ENST00000544455.1_Missense_Mutation_p.H1752N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1752	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTATTCCTACCATTCTGATGA	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD044123	BRCA2	D	rs80358749	c.(5254-5256)Cat>Aat	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							51	55	54					13																	32913746		2202	4292	6494	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913746C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5254C>A	13.37:g.32913746C>A	ENSP00000369497:p.His1752Asn	TCGA Ovarian(8;0.087)					p.H1752N	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	5481	+		Lung SC(185;0.0262)	1752					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5254C>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	4.205	0.036705	0.08148	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00848	5.62;5.62	5.3	2.34	0.29019	.	1.536270	0.03583	N	0.230510	T	0.01835	0.0058	M	0.69823	2.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53151	-0.8479	10	0.28530	T	0.3	.	6.5703	0.22535	0.4205:0.495:0.0:0.0845	.	1752	P51587	BRCA2_HUMAN	N	1752	ENSP00000369497:H1752N;ENSP00000439902:H1752N	ENSP00000369497:H1752N	H	+	1	0	BRCA2	31811746	0.001000	0.12720	0.001000	0.08648	0.167000	0.22549	0.776000	0.26704	0.678000	0.31325	0.655000	0.94253	CAT		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32913746	C	A	32913746	3	1	181	1	0	0	0	0	1	0	0	0	1499	594	21	5	5292	5	BRCA2	13	32913746	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	7540213	32913746	82256132	68	12825											
TNFSF11	8600	broad.mit.edu	37	chr13	43175077	43175077	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagcttgaagctcagccTtttgctcatctcactattaa	11	13	6	11	0	3	1	3	1	1	0	4	1	3	1	1	0	5	4	1	0	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:43175077T>A	ENST00000239849.6	+	4	643	c.492T>A	c.(490-492)ccT>ccA	p.P164P	TNFSF11_ENST00000544862.1_Silent_p.P91P|TNFSF11_ENST00000405262.2_Silent_p.P91P|TNFSF11_ENST00000398795.2_Silent_p.P91P|TNFSF11_ENST00000358545.2_Silent_p.P91P			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	164					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	AAGCTCAGCCTTTTGCTCATC	0.428																																						uc001uyu.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(490-492)ccT>ccA		Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.							143	139	141					13																	43175077		2203	4300	6503	SO:0001819	synonymous_variant	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43175077T>A	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.492T>A	13.37:g.43175077T>A						TNFSF11_uc001uyt.2_Silent_p.P91P	p.P164P	NM_003701	NP_143026	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	3	641	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	164					O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	c.492T>A	CCDS9384.1																																																																																				0.428	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			A	43175077	T	A	43175077	2	1	181	1	0	0	0	0	0	0	0	1	16299	1596	56	5		5	TNFSF11	13	43175077	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	10261331	43175077	71994801	69	12826											
OR4M1	441670	broad.mit.edu	37	chr14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatattccctttacttaatcCcattatttacacattgagaa	14	16	2	9	0	0	1	0	1	0	1	2	2	2	1	2	0	2	0	2	0	7	9			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:20249338C>T	ENST00000315957.4	+	1	938	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363																																						uc010tku.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(856-858)cCc>cTc		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							103	103	103					14																	20249338		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249338C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.857C>T	14.37:g.20249338C>T	ENSP00000319654:p.Pro286Leu						p.P286L	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	857	+	all_cancers(95;0.00108)		286					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.857C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.146730	0.57151	.	.	ENSG00000176299	ENST00000315957	T	0.63417	-0.04	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	D	0.83101	0.5181	M	0.92077	3.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87377	0.2354	10	0.87932	D	0	-17.4385	14.9222	0.70847	0.0:1.0:0.0:0.0	.	286	Q8NGD0	OR4M1_HUMAN	L	286	ENSP00000319654:P286L	ENSP00000319654:P286L	P	+	2	0	OR4M1	19319178	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.025000	0.76449	2.468000	0.83385	0.506000	0.49869	CCC		0.363	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			T	20249338	C	T	20249338	3	4	181	1	0	0	0	0	1	0	0	0	11075	623	22	3	859	3	OR4M1	14	20249338	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		20249338	87100202	70	12827											
CHD8	57680	broad.mit.edu	37	chr14	21897227	21897227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggacagagtcactggctGggtggagggtggctgctggg	7	7	21	6	0	1	2	1	0	0	2	1	4	1	4	0	7	1	3	0	7	0	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:21897227G>C	ENST00000557364.1	-	3	1374	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	CHD8_ENST00000399982.2_Missense_Mutation_p.Q371E|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.Q92E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	371	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCACTGGCTGGGTGGAGGGT	0.547																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1111-1113)Cag>Gag		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							129	144	139					14																	21897227		2127	4262	6389	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897227G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1111C>G	14.37:g.21897227G>C	ENSP00000451601:p.Gln371Glu					CHD8_uc001was.2_Missense_Mutation_p.Q92E	p.Q371E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	1	1176	-	all_cancers(95;0.00121)		371			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1111C>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997425	0.35226	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88586	-2.38;-2.4;-2.4	5.44	5.44	0.79542	.	0.200976	0.44483	D	0.000452	T	0.79423	0.4443	N	0.19112	0.55	0.26331	N	0.977514	B	0.15473	0.013	B	0.12156	0.007	T	0.56062	-0.8041	10	0.02654	T	1	-13.7016	16.2954	0.82768	0.0:0.0:1.0:0.0	.	92	Q9HCK8-2	.	E	92;371;91;371	ENSP00000406288:Q92E;ENSP00000382863:Q371E;ENSP00000451601:Q371E	ENSP00000262707:Q91E	Q	-	1	0	CHD8	20967067	1.000000	0.71417	0.971000	0.41717	0.768000	0.43524	3.670000	0.54569	2.828000	0.97474	0.655000	0.94253	CAG		0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21897227	G	C	21897227	3	2	181	1	0	0	0	0	1	0	0	0	3331	1357	47	5	6778	5	CHD8	14	21897227	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	1647889	21897227	85452313	71	12828											
SLC35F4	341880	broad.mit.edu	37	chr14	58063582	58063582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcctcccactggtcaGtttgtggaagagatccaaga	10	9	11	11	0	1	2	1	0	0	2	3	4	3	3	3	2	2	2	3	2	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:58063582G>C	ENST00000339762.6	-	1	33	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	12					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACTGGTCAGTTTGTGGAAG	0.428																																						uc021rtp.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24								Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.							55	55	55					14																	58063582		2009	4177	6186	SO:0001583	missense	341880							g.chr14:58063582G>C			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.34C>G	14.37:g.58063582G>C	ENSP00000342518:p.Leu12Val					SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR		NM_001206920	NP_001193849							-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37			.	.	.	.	.	.	.	.	.	.	G	4.698	0.129785	0.08981	.	.	ENSG00000151812	ENST00000339762	T	0.45276	0.9	4.13	0.805	0.18703	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	8	0.32370	T	0.25	.	4.0401	0.09748	0.2072:0.5244:0.2684:0.0	.	12	A4IF30	S35F4_HUMAN	V	12	ENSP00000342518:L12V	ENSP00000342518:L12V	L	-	1	2	SLC35F4	57133335	0.227000	0.23707	0.007000	0.13788	0.028000	0.11728	0.875000	0.28079	0.153000	0.19213	-0.182000	0.12963	CTG		0.428	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		C	58063582	G	C	58063582	3	2	181	1	0	0	0	0	1	0	0	0	14591	1020	36	5	1563	5	SLC35F4	14	58063582	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	36166355	58063582	49285958	72	12829											
ATG2B	55102	broad.mit.edu	37	chr14	96779478	96779478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacggtaagaagagatcggaTtggcaaataaaggggtctaa	16	7	13	5	2	1	2	0	0	1	2	2	4	1	3	0	5	0	2	0	5	6	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:96779478T>C	ENST00000359933.4	-	25	4659	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1256					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGATCGGATTGGCAAATAA	0.378																																						uc001yfi.3																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3766-3768)Atc>Gtc		Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.							103	101	102					14																	96779478		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96779478T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3766A>G	14.37:g.96779478T>C	ENSP00000353010:p.Ile1256Val						p.I1256V	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	24	4131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1256					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3766A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	2.423	-0.332698	0.05314	.	.	ENSG00000066739	ENST00000359933	T	0.09163	3.01	6.01	3.64	0.41730	.	0.628281	0.17830	N	0.160562	T	0.03348	0.0097	N	0.02315	-0.6	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.45131	-0.9282	10	0.06891	T	0.86	.	6.7135	0.23290	0.0:0.1438:0.13:0.7262	.	1256	Q96BY7	ATG2B_HUMAN	V	1256	ENSP00000353010:I1256V	ENSP00000353010:I1256V	I	-	1	0	ATG2B	95849231	0.053000	0.20554	0.775000	0.31657	0.993000	0.82548	0.200000	0.17257	0.503000	0.28060	0.533000	0.62120	ATC		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		C	96779478	T	C	96779478	3	2	181	1	0	0	0	0	1	0	0	0	1094	1493	52	4	2542	4	ATG2B	14	96779478	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	38715896	96779478	10570062	73	12830											
FAM81A	145773	broad.mit.edu	37	chr15	59752269	59752269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtagagcacgcctttcGgattaaagatgacattgtca	11	11	9	10	3	1	3	1	1	0	2	3	4	1	4	2	1	1	2	2	1	3	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:59752269G>A	ENST00000288228.5	+	3	345	c.158G>A	c.(157-159)cGg>cAg	p.R53Q		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	53										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CACGCCTTTCGGATTAAAGAT	0.502																																						uc002agc.2																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(157-159)cGg>cAg		Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.							67	68	67					15																	59752269		1921	4122	6043	SO:0001583	missense	145773							g.chr15:59752269G>A		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.158G>A	15.37:g.59752269G>A	ENSP00000288228:p.Arg53Gln					FAM81A_uc010uha.2_Missense_Mutation_p.R53Q	p.R53Q	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			2	345	+			53						Missense_Mutation	SNP	ENST00000288228.5	37	c.158G>A	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963580	0.74016	.	.	ENSG00000157470	ENST00000288228	T	0.28895	1.59	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	T	0.55321	0.1913	M	0.69358	2.11	0.43965	D	0.996646	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.56456	-0.7976	10	0.72032	D	0.01	-23.1858	16.6985	0.85342	0.0:0.0:1.0:0.0	.	50;53	B4DRE4;Q8TBF8	.;FA81A_HUMAN	Q	53	ENSP00000288228:R53Q	ENSP00000288228:R53Q	R	+	2	0	FAM81A	57539561	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	3.974000	0.56852	2.619000	0.88677	0.561000	0.74099	CGG		0.502	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		A	59752269	G	A	59752269	3	1	181	1	0	0	0	0	1	0	0	0	5628	1116	39	2	164	2	FAM81A	15	59752269	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		59752269	42779123	74	12831											
MAN2A2	4122	broad.mit.edu	37	chr15	91452684	91452684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatgcccagttcttcaacTaccaacggctctttgacttc	8	12	8	13	1	3	1	1	1	2	0	4	2	3	2	2	2	4	2	2	2	3	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:91452684T>C	ENST00000559717.1	+	9	1783	c.1324T>C	c.(1324-1326)Tac>Cac	p.Y442H	MAN2A2_ENST00000431652.2_Silent_p.T17T|MAN2A2_ENST00000360468.3_Missense_Mutation_p.Y442H|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	442					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCTTCAACTACCAACGGCT	0.567																																						uc010bnz.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1324-1326)Tac>Cac		Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.							106	92	97					15																	91452684		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91452684T>C	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1324T>C	15.37:g.91452684T>C	ENSP00000452948:p.Tyr442His					MAN2A2_uc010boa.3_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.3_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.2_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.2_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	p.Y442H	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		8	1439	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		442					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1324T>C	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843145	0.91197	.	.	ENSG00000196547	ENST00000360468	T	0.24350	1.86	5.74	5.74	0.90152	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.117701	0.64402	D	0.000011	T	0.63462	0.2513	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.74970	-0.3482	10	0.87932	D	0	-19.6825	15.7549	0.78015	0.0:0.0:0.0:1.0	.	112;442;442	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	H	442	ENSP00000353655:Y442H	ENSP00000353655:Y442H	Y	+	1	0	MAN2A2	89253688	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.698000	0.84413	2.211000	0.71520	0.454000	0.30748	TAC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		C	91452684	T	C	91452684	3	2	181	1	0	0	0	0	1	0	0	0	9215	1522	53	4	1354	4	MAN2A2	15	91452684	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	31700415	91452684	11078708	75	12832											
SPATA8	145946	broad.mit.edu	37	chr15	97326893	97326893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcatgaggaatggcccCggctgggatgtcaggggccc	8	5	18	10	1	1	1	1	1	0	0	1	3	1	3	3	7	0	2	3	7	2	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:97326893C>T	ENST00000328504.3	+	1	275	c.8C>T	c.(7-9)cCg>cTg	p.P3L	SPATA8_ENST00000558553.1_Intron|SPATA8-AS1_ENST00000558722.1_RNA|SPATA8-AS1_ENST00000560888.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	3										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGAATGGCCCCGGCTGGGATG	0.567																																						uc002bue.3																			0				large_intestine(4)|lung(8)|ovary(1)|skin(3)	16						c.(7-9)cCg>cTg		Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.							72	72	72					15																	97326893		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97326893C>T	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.8C>T	15.37:g.97326893C>T	ENSP00000328149:p.Pro3Leu					DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	p.P3L	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		0	215	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		3					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.8C>T	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	c	2.880	-0.232040	0.05983	.	.	ENSG00000185594	ENST00000328504	.	.	.	2.64	-5.29	0.02747	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30504	-0.9976	8	0.02654	T	1	.	2.9325	0.05804	0.3142:0.2289:0.0:0.4569	.	3	Q6RVD6	SPAT8_HUMAN	L	3	.	ENSP00000328149:P3L	P	+	2	0	SPATA8	95127897	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-1.279000	0.02405	-2.390000	0.00227	CCG		0.567	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		T	97326893	C	T	97326893	3	4	181	1	0	0	0	0	1	0	0	0	15014	652	23	2	10	2	SPATA8	15	97326893	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	5874209	97326893	5204499	76	12833											
PDILT	204474	broad.mit.edu	37	chr16	20373885	20373885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaacagcatcttgcaCtttttagaccagggtgcatc	10	11	11	9	0	1	1	0	0	1	1	2	2	1	2	1	2	4	3	1	2	2	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:20373885C>G	ENST00000302451.4	-	10	1505	c.1257G>C	c.(1255-1257)aaG>aaC	p.K419N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	419	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCATCTTGCACTTTTTAGACC	0.473																																						uc002dhc.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1255-1257)aaG>aaC		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.							192	145	161					16																	20373885		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20373885C>G		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1257G>C	16.37:g.20373885C>G	ENSP00000305465:p.Lys419Asn						p.K419N	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			9	1480	-			419			Thioredoxin.		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1257G>C	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966761	0.18659	.	.	ENSG00000169340	ENST00000302451	T	0.03358	3.96	5.0	0.705	0.18127	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.215312	0.46442	D	0.000284	T	0.04137	0.0115	L	0.48642	1.525	0.29934	N	0.821675	B	0.23249	0.082	B	0.24701	0.055	T	0.13335	-1.0513	10	0.87932	D	0	.	7.8805	0.29618	0.0:0.5641:0.0:0.4359	.	419	Q8N807	PDILT_HUMAN	N	419	ENSP00000305465:K419N	ENSP00000305465:K419N	K	-	3	2	PDILT	20281386	0.064000	0.20934	0.398000	0.26321	0.444000	0.32077	-1.156000	0.03160	0.285000	0.22329	0.563000	0.77884	AAG		0.473	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		G	20373885	C	G	20373885	3	3	181	1	0	0	0	0	1	0	0	0	11674	564	20	5	509	5	PDILT	16	20373885	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		20373885	69980868	77	12834											
ERN2	10595	broad.mit.edu	37	chr16	23712369	23712369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccagccccaagtaagAgtctggagttttttcttctg	7	13	11	10	0	3	1	0	0	3	1	4	2	4	2	3	2	1	2	3	2	2	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:23712369A>G	ENST00000256797.4	-	12	1582	c.1414T>C	c.(1414-1416)Tct>Cct	p.S472P	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAGTAAGAGTCTGGAGTT	0.562																																						uc002dma.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1414-1416)Tct>Cct		Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.							84	83	83					16																	23712369		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23712369A>G	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1414T>C	16.37:g.23712369A>G	ENSP00000256797:p.Ser472Pro					ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	p.S472P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1583	-			424	FAH -> TAD (in Ref. 1; BAB21297).					Missense_Mutation	SNP	ENST00000256797.4	37	c.1414T>C	CCDS32407.1	.	.	.	.	.	.	.	.	.	.	A	8.097	0.775771	0.16051	.	.	ENSG00000134398	ENST00000256797	T	0.60672	0.17	5.09	-7.36	0.01417	.	0.978445	0.08391	N	0.952869	T	0.30417	0.0764	N	0.14661	0.345	0.09310	N	1	B;B	0.31730	0.182;0.337	B;B	0.30179	0.112;0.063	T	0.20107	-1.0285	10	0.27785	T	0.31	.	6.6715	0.23070	0.3094:0.0:0.4681:0.2225	.	424;424	Q76MJ5;A5YM65	ERN2_HUMAN;.	P	472	ENSP00000256797:S472P	ENSP00000256797:S472P	S	-	1	0	ERN2	23619870	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.424000	0.07025	-1.480000	0.01865	0.459000	0.35465	TCT		0.562	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434887.1			G	23712369	A	G	23712369	3	3	181	1	0	0	0	0	1	0	0	0	5238	304	11	4	1554	4	ERN2	16	23712369	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	3338484	23712369	66642384	78	12835											
PRKCB	5579	broad.mit.edu	37	chr16	24202548	24202548	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcccccttataagccaaaAgctgtaagtagcccattctc	12	9	6	14	0	1	0	0	0	1	0	2	0	1	0	4	0	4	3	4	0	6	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:24202548A>G	ENST00000321728.7	+	16	2035	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	PRKCB_ENST00000303531.7_Silent_p.K620K	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	620	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ATAAGCCAAAAGCTGTAAGTA	0.473																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1858-1860)aaA>aaG		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						105	110	108					16																	24202548		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202548A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1860A>G	16.37:g.24202548A>G						PRKCB_uc002dme.3_Silent_p.K620K	p.K620K	NM_212535	NP_997700	P05771	KPCB_HUMAN			15	2057	+			620			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1860A>G	CCDS10618.1																																																																																				0.473	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		G	24202548	A	G	24202548	2	3	181	1	0	0	0	0	0	0	0	1	12508	69	3	4		4	PRKCB	16	24202548	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	490179	24202548	66152205	79	12836											
LPCAT2	54947	broad.mit.edu	37	chr16	55543215	55543215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcccgccgccggtgcCgaaccccttcgtgcagcaga	5	8	10	18	5	1	1	0	0	1	1	3	2	2	1	6	1	4	2	6	1	1	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:55543215C>T	ENST00000262134.5	+	1	306	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	41					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGCCGGTGCCGAACCCCTTC	0.726																																						uc002eie.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(121-123)cCg>cTg		Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.							8	11	10					16																	55543215		1725	3671	5396	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55543215C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.122C>T	16.37:g.55543215C>T	ENSP00000262134:p.Pro41Leu						p.P41L	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			0	303	+			41					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.122C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557153	0.27827	.	.	ENSG00000087253	ENST00000262134	T	0.33865	1.39	5.02	-1.26	0.09376	.	0.971212	0.08529	N	0.932355	T	0.19725	0.0474	L	0.31664	0.95	0.39839	D	0.973088	B	0.02656	0.0	B	0.04013	0.001	T	0.36768	-0.9734	10	0.07644	T	0.81	-1.6676	4.8373	0.13471	0.1344:0.372:0.4082:0.0854	.	41	Q7L5N7	PCAT2_HUMAN	L	41	ENSP00000262134:P41L	ENSP00000262134:P41L	P	+	2	0	LPCAT2	54100716	0.912000	0.30974	0.449000	0.26957	0.385000	0.30292	-0.025000	0.12413	-0.494000	0.06669	0.579000	0.79373	CCG		0.726	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		T	55543215	C	T	55543215	3	4	181	1	0	0	0	0	1	0	0	0	8911	652	23	2	124	2	LPCAT2	16	55543215	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	31340667	55543215	34811538	80	12837											
C16orf46	123775	broad.mit.edu	37	chr16	81095126	81095126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggaggatggcgtgtcGttgaccatagggtgtttggc	7	10	19	5	2	0	1	0	1	0	0	1	4	0	3	1	6	0	2	1	6	2	3	rs537023465		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:81095126G>A	ENST00000299578.5	-	4	1063	c.828C>T	c.(826-828)aaC>aaT	p.N276N	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.N276N	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATGGCGTGTCGTTGACCATAG	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		17023	0		0	False		,,,				2504	0					uc002fgc.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(826-828)aaC>aaT		Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.							148	133	138					16																	81095126		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095126G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.828C>T	16.37:g.81095126G>A						C16orf46_uc010chf.3_Silent_p.N276N|C16orf46_uc010vno.2_Silent_p.N3N	p.N276N	NM_152337	NP_689550	Q6P387	CP046_HUMAN			3	1087	-			276					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.828C>T	CCDS10932.1																																																																																				0.552	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		A	81095126	G	A	81095126	2	1	181	1	0	0	0	0	0	0	0	1	1815	1136	40	1		1	C16orf46	16	81095126	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	25551911	81095126	9259627	81	12838											
KIAA0513	9764	broad.mit.edu	37	chr16	85120720	85120720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttggactgaacaagaaGctgtgcaatgacttcctgaa	12	10	10	9	0	0	4	0	3	0	1	1	5	1	5	2	1	3	2	2	1	5	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:85120720G>A	ENST00000566428.1	+	12	1765	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	KIAA0513_ENST00000538274.1_Silent_p.K368K|KIAA0513_ENST00000258180.3_Silent_p.K378K			O60268	K0513_HUMAN	KIAA0513	378						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAACAAGAAGCTGTGCAATG	0.612											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fiu.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(1132-1134)aaG>aaA		Homo sapiens KIAA0513 (KIAA0513), mRNA.							111	97	102					16																	85120720		2198	4300	6498	SO:0001819	synonymous_variant	9764					cytoplasm		g.chr16:85120720G>A	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1134G>A	16.37:g.85120720G>A			OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1234	KIAA0513_uc010voj.2_Silent_p.K368K	p.K378K	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	11	1354	+			378					B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	ENST00000566428.1	37	c.1134G>A	CCDS32499.1																																																																																				0.612	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		A	85120720	G	A	85120720	2	1	181	1	0	0	0	0	0	0	0	1	8181	962	34	3		3	KIAA0513	16	85120720	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	4025594	85120720	5234033	82	12839											
SENP3	26168	broad.mit.edu	37	chr17	7466491	7466491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggcgggagcgtcttcGttggcccccacctcccaaac	6	7	10	18	3	1	0	0	0	1	0	4	1	3	1	5	3	2	1	5	3	1	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7466491G>A	ENST00000429205.2	+	2	147	c.98G>A	c.(97-99)cGt>cAt	p.R33H	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.R33H|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	33	Pro-rich.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GAGCGTCTTCGTTGGCCCCCA	0.637																																						uc002ghm.3																			0				central_nervous_system(1)|ovary(1)	2						c.(97-99)cGt>cAt		Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.							13	15	14					17																	7466491		1960	4111	6071	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7466491G>A	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.98G>A	17.37:g.7466491G>A	ENSP00000403712:p.Arg33His					EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	p.R33H	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN			1	381	+		Prostate(122;0.157)	33			Pro-rich.		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.98G>A		.	.	.	.	.	.	.	.	.	.	G	16.89	3.247322	0.59103	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.35789	1.29;1.29	4.72	4.72	0.59763	.	0.093658	0.43110	D	0.000604	T	0.33731	0.0873	N	0.08118	0	0.30876	N	0.731937	D	0.65815	0.995	P	0.58520	0.84	T	0.32877	-0.9890	10	0.54805	T	0.06	-6.0963	13.056	0.58980	0.0:0.0:1.0:0.0	.	33	Q9H4L4	SENP3_HUMAN	H	33	ENSP00000314029:R33H;ENSP00000403712:R33H	ENSP00000314029:R33H	R	+	2	0	SENP3	7407215	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.171000	0.58236	2.440000	0.82611	0.563000	0.77884	CGT		0.637	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		A	7466491	G	A	7466491	3	1	181	1	0	0	0	0	1	0	0	0	14048	1145	40	1	100	1	SENP3	17	7466491	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		7466491	73728719	83	12840											
ALOX15B	247	broad.mit.edu	37	chr17	7948185	7948185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaggacgccttcttcGcctcccagttcctgaatggt	6	10	12	13	2	1	1	0	1	1	0	4	3	3	3	4	4	0	2	4	4	1	3	rs375708086		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7948185G>A	ENST00000380183.4	+	6	854	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ALOX15B_ENST00000573359.1_Missense_Mutation_p.A239T|ALOX15B_ENST00000572022.1_Missense_Mutation_p.A239T|ALOX15B_ENST00000380173.2_Missense_Mutation_p.A239T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	239	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCTTCTTCGCCTCCCAGTT	0.607																																						uc002gju.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(715-717)Gcc>Acc		Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.							109	75	87					17																	7948185		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948185G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.715G>A	17.37:g.7948185G>A	ENSP00000369530:p.Ala239Thr					ALOX15B_uc002gjv.3_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.3_Missense_Mutation_p.A239T|ALOX15B_uc010vun.2_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.3_Missense_Mutation_p.A45T	p.A239T	NM_001141	NP_001132	O15296	LX15B_HUMAN			5	831	+			239			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.715G>A	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945542	0.92593	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.92752	-3.1;-3.1	4.26	3.27	0.37495	Lipoxygenase, C-terminal (3);	0.116479	0.56097	D	0.000030	D	0.90082	0.6902	M	0.82923	2.615	0.37533	D	0.917998	B;P;B;B	0.37158	0.432;0.585;0.378;0.432	B;B;B;B	0.29663	0.105;0.092;0.064;0.105	D	0.92399	0.5928	10	0.87932	D	0	-24.2777	10.7199	0.46034	0.0974:0.0:0.9026:0.0	.	239;239;239;239	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	T	239	ENSP00000369520:A239T;ENSP00000369530:A239T	ENSP00000344337:A239T	A	+	1	0	ALOX15B	7888910	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	7.605000	0.82844	2.092000	0.63282	0.491000	0.48974	GCC		0.607	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			A	7948185	G	A	7948185	3	1	181	1	0	0	0	0	1	0	0	0	539	1087	38	1	737	1	ALOX15B	17	7948185	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	481694	7948185	73247025	84	12841											
KRT24	192666	broad.mit.edu	37	chr17	38859417	38859417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacccaggcccatatttgtCataccactccttgattttgt	9	14	6	12	0	1	2	1	1	0	1	2	2	2	2	4	1	1	0	4	1	2	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:38859417C>T	ENST00000264651.2	-	1	585	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	177	Linker 1.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATATTTGTCATACCACTCC	0.458																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(529-531)Gac>Aac		Homo sapiens keratin 24 (KRT24), mRNA.							179	176	177					17																	38859417		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859417C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.529G>A	17.37:g.38859417C>T	ENSP00000264651:p.Asp177Asn						p.D177N	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			0	586	-		Breast(137;0.00526)	177			Linker 1.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.529G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480934	0.84747	.	.	ENSG00000167916	ENST00000264651	D	0.88509	-2.39	5.6	5.6	0.85130	Filament (1);	.	.	.	.	D	0.88336	0.6409	L	0.52266	1.64	0.35399	D	0.791461	B	0.32010	0.351	B	0.37780	0.258	D	0.91092	0.4907	9	0.87932	D	0	.	16.066	0.80870	0.0:0.866:0.134:0.0	.	177	Q2M2I5	K1C24_HUMAN	N	177	ENSP00000264651:D177N	ENSP00000264651:D177N	D	-	1	0	KRT24	36112943	0.988000	0.35896	0.992000	0.48379	0.876000	0.50452	1.239000	0.32719	2.800000	0.96347	0.655000	0.94253	GAC		0.458	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		T	38859417	C	T	38859417	3	4	181	1	0	0	0	0	1	0	0	0	8461	826	29	3	1080	3	KRT24	17	38859417	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	30911232	38859417	42335793	85	12842											
ABCA6	23460	broad.mit.edu	37	chr17	67079124	67079124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaatccttgccaagtttGtttttcaggtgttggatgga	8	17	11	5	0	1	0	1	0	0	0	2	2	2	2	2	3	1	4	2	3	2	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:67079124G>C	ENST00000284425.2	-	36	4680	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1502	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCCAAGTTTGTTTTTCAGGT	0.378																																						uc002jhw.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4504-4506)aaC>aaG		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							188	194	192					17																	67079124		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079124G>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4506C>G	17.37:g.67079124G>C	ENSP00000284425:p.Asn1502Lys						p.N1502K	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			35	4681	-	Breast(10;5.65e-12)		1502			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4506C>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245595	0.39697	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.95307	-3.67	5.27	0.249	0.15531	ABC transporter-like (1);	0.460663	0.19462	N	0.113662	D	0.85915	0.5808	N	0.17764	0.52	0.39068	D	0.960652	B	0.19445	0.036	B	0.22601	0.04	T	0.74973	-0.3481	10	0.72032	D	0.01	.	1.9087	0.03282	0.2286:0.1602:0.4683:0.1428	.	1502	Q8N139	ABCA6_HUMAN	K	1502;362	ENSP00000284425:N1502K	ENSP00000284425:N1502K	N	-	3	2	ABCA6	64590719	0.001000	0.12720	0.906000	0.35671	0.981000	0.71138	-0.762000	0.04745	-0.001000	0.14495	0.650000	0.86243	AAC		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		C	67079124	G	C	67079124	3	2	181	1	0	0	0	0	1	0	0	0	36	1368	48	5	363	5	ABCA6	17	67079124	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	28219707	67079124	14116086	86	12843											
ZNF236	7776	broad.mit.edu	37	chr18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggtcctcaagtcccacGagaagacacacacaggtcac	12	5	10	14	1	2	2	2	0	0	2	4	3	4	2	2	3	0	0	2	3	2	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr18:74625839G>A	ENST00000253159.8	+	18	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1016K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1014					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483																																						uc002lmi.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3040-3042)Gag>Aag		Homo sapiens zinc finger protein 236 (ZNF236), mRNA.							83	89	87					18																	74625839		1939	4135	6074	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625839G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3040G>A	18.37:g.74625839G>A	ENSP00000253159:p.Glu1014Lys					ZNF236_uc002lmj.3_Non-coding_Transcript	p.E1014K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3238	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1014					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3040G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282019	0.40394	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.24538	1.85;1.85	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160038	0.44483	D	0.000454	T	0.23330	0.0564	N	0.05554	-0.025	0.41256	D	0.986746	D	0.67145	0.996	P	0.58331	0.837	T	0.02477	-1.1153	10	0.02654	T	1	.	18.2767	0.90085	0.0:0.0:1.0:0.0	.	1014	Q9UL36	ZN236_HUMAN	K	1014	ENSP00000253159:E1014K;ENSP00000444524:E1014K	ENSP00000253159:E1014K	E	+	1	0	ZNF236	72754827	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	4.134000	0.57990	2.317000	0.78254	0.462000	0.41574	GAG		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74625839	G	A	74625839	3	1	181	1	0	0	0	0	1	0	0	0	17786	1059	37	2	3110	2	ZNF236	18	74625839	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		74625839	3451409	87	12844											
PTPRS	5802	broad.mit.edu	37	chr19	5221104	5221104	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggcttgccgttgagcAggttgaaggcagtccaggcg	6	8	17	10	3	0	2	0	2	0	0	1	2	1	2	2	4	2	6	2	4	1	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:5221104A>C	ENST00000587303.1	-	19	3461	c.3362T>G	c.(3361-3363)cTg>cGg	p.L1121R	PTPRS_ENST00000372412.4_Missense_Mutation_p.L1122R|PTPRS_ENST00000588012.1_Missense_Mutation_p.L1099R|PTPRS_ENST00000592099.1_Missense_Mutation_p.L690R|PTPRS_ENST00000348075.2_Missense_Mutation_p.L1099R|PTPRS_ENST00000353284.2_Missense_Mutation_p.L690R|PTPRS_ENST00000357368.4_Missense_Mutation_p.L1121R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.L1117R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1121					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCCGTTGAGCAGGTTGAAGGC	0.622																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3361-3363)cTg>cGg		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							127	107	114					19																	5221104		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5221104A>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3362T>G	19.37:g.5221104A>C	ENSP00000467537:p.Leu1121Arg					PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.2_Missense_Mutation_p.L690R|PTPRS_uc002mbw.3_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.3_Missense_Mutation_p.L694R|PTPRS_uc002mby.3_Missense_Mutation_p.L690R	p.L1121R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	19	3596	-			1121					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3362T>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438572	0.62955	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.55760	0.6;0.6;0.6;0.6;0.5	3.78	3.78	0.43462	.	0.372260	0.23019	U	0.052872	T	0.60392	0.2265	L	0.46157	1.445	0.37595	D	0.92034	B;B;P;P;B;P	0.47677	0.339;0.367;0.534;0.899;0.384;0.608	B;B;P;P;B;B	0.57101	0.361;0.252;0.715;0.813;0.183;0.319	T	0.68447	-0.5406	10	0.87932	D	0	.	12.7108	0.57088	1.0:0.0:0.0:0.0	.	703;690;694;1099;1121;716	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	716;1122;1121;1121;1112;1117;1099;703;694;690	ENSP00000361489:L1122R;ENSP00000349932:L1121R;ENSP00000262963:L1117R;ENSP00000269907:L1099R;ENSP00000327313:L690R	ENSP00000262963:L1117R	L	-	2	0	PTPRS	5172104	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.098000	0.76974	1.594000	0.50039	0.459000	0.35465	CTG		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			C	5221104	A	C	5221104	3	2	181	1	0	0	0	0	1	0	0	0	12811	188	7	5	2560	5	PTPRS	19	5221104	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		5221104	53907879	88	12845											
KIAA1543	57662	broad.mit.edu	37	chr19	7676675	7676675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccgctctgtgagctcGgacagcctgggccccccgcg	3	7	12	19	4	1	1	0	1	1	0	4	2	3	2	6	2	2	2	6	2	0	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:7676675G>A	ENST00000160298.4	+	11	1397	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	CAMSAP3_ENST00000446248.2_Silent_p.S459S	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	432					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGTGAGCTCGGACAGCCTGG	0.687																																						uc002mgu.4																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1375-1377)tcG>tcA		Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.							13	16	15					19																	7676675		1972	4138	6110	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676675G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1296G>A	19.37:g.7676675G>A						CAMSAP3_uc002mgv.4_Silent_p.S432S|CAMSAP3_uc002mgw.3_5'Flank	p.S459S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN			12	1478	+			432			Pro-rich.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.1377G>A	CCDS42489.1																																																																																				0.687	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		A	7676675	G	A	7676675	2	1	181	1	0	0	0	0	0	0	0	1	8243	1103	39	2		2	KIAA1543	19	7676675	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	2455571	7676675	51452308	89	12846											
ZNF99	7652	broad.mit.edu	37	chr19	22940690	22940690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatttgtagggtttcTcttcagtatgaattacttta	9	19	6	7	0	3	1	2	1	1	0	4	1	3	1	0	1	1	3	0	1	5	9			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:22940690T>C	ENST00000596209.1	-	4	2111	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G	ZNF99_ENST00000397104.3_Missense_Mutation_p.E583G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTAGGGTTTCTCTTCAGTATG	0.358																																						uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2020-2022)gAg>gGg		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							48	51	50					19																	22940690		2133	4256	6389	SO:0001583	missense	7652							g.chr19:22940690T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2021A>G	19.37:g.22940690T>C	ENSP00000472969:p.Glu674Gly						p.E674G	NM_001080409	NP_001073878					3	2176	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2021A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	11.27	1.590579	0.28357	.	.	ENSG00000213973	ENST00000397104	T	0.27557	1.66	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41305	0.1153	L	0.47716	1.5	0.39200	D	0.963129	D	0.71674	0.998	D	0.67900	0.954	T	0.36335	-0.9752	9	0.72032	D	0.01	.	7.5016	0.27522	0.0:0.0:0.0:1.0	.	583	A8MXY4	ZNF99_HUMAN	G	583	ENSP00000380293:E583G	ENSP00000380293:E583G	E	-	2	0	ZNF99	22732530	0.063000	0.20901	0.082000	0.20525	0.030000	0.12068	2.264000	0.43302	0.569000	0.29329	0.329000	0.21502	GAG		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22940690	T	C	22940690	3	2	181	1	0	0	0	0	1	0	0	0	18201	1551	54	4	1376	4	ZNF99	19	22940690	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	15264015	22940690	36188293	90	12847											
SFRS16	11129	broad.mit.edu	37	chr19	45561033	45561033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagaaggcttccatcGgttatacctacgaggacagc	13	7	11	10	2	0	2	0	0	0	2	2	5	1	3	2	3	3	2	2	3	5	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:45561033G>A	ENST00000221455.3	+	7	588	c.490G>A	c.(490-492)Ggt>Agt	p.G164S	CLASRP_ENST00000544944.2_Missense_Mutation_p.G164S|CLASRP_ENST00000391953.4_Missense_Mutation_p.G102S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	164					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGCTTCCATCGGTTATACCTA	0.617																																						uc002pak.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(490-492)Ggt>Agt		Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.							131	111	117					19																	45561033		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561033G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.490G>A	19.37:g.45561033G>A	ENSP00000221455:p.Gly164Ser					CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.G102S|CLASRP_uc002pam.3_Missense_Mutation_p.G164S|CLASRP_uc002pan.1_Non-coding_Transcript	p.G164S	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN			6	588	+			164					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.490G>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	32	5.110434	0.94292	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.7	4.7	0.59300	Splicing factor, suppressor of white apricot (1);	0.000000	0.36932	U	0.002335	T	0.56804	0.2010	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.97	T	0.62044	-0.6937	10	0.72032	D	0.01	-30.767	15.1769	0.72920	0.0:0.0:1.0:0.0	.	102;164;164	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	S	164;164;102;164	ENSP00000221455:G164S;ENSP00000375814:G164S;ENSP00000375815:G102S;ENSP00000438702:G164S	ENSP00000221455:G164S	G	+	1	0	CLASRP	50252873	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	9.208000	0.95075	2.434000	0.82447	0.563000	0.77884	GGT		0.617	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		A	45561033	G	A	45561033	3	1	181	1	0	0	0	0	1	0	0	0	14172	1116	39	2	512	2	SFRS16	19	45561033	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	22620343	45561033	13567950	91	12848											
ZNF347	84671	broad.mit.edu	37	chr19	53645135	53645135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcattacatttgtaacGtttttcgccagtatggatca	11	15	6	9	2	2	0	2	0	0	0	3	1	2	1	1	1	2	3	1	1	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:53645135G>A	ENST00000334197.7	-	5	1014	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	ZNF347_ENST00000452676.2_Missense_Mutation_p.R317C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R317C	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAACGTTTTTCGCCA	0.373																																					Melanoma(64;205 1597 17324 45721)	uc002qbc.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(949-951)Cgt>Tgt		Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.							157	149	152					19																	53645135		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645135G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.946C>T	19.37:g.53645135G>A	ENSP00000334146:p.Arg316Cys					ZNF347_uc002qbb.2_Missense_Mutation_p.R316C|ZNF347_uc010eql.2_Missense_Mutation_p.R317C	p.R317C	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	4	1376	-			316					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.949C>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369506	0.42003	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.18960	2.18;2.18	2.85	0.478	0.16789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26195	0.0639	L	0.39566	1.225	0.09310	N	0.999995	D;D	0.69078	0.996;0.997	P;P	0.56960	0.712;0.81	T	0.11891	-1.0569	9	0.87932	D	0	.	5.8475	0.18673	0.1216:0.196:0.6824:0.0	.	317;316	G5E9N4;Q96SE7	.;ZN347_HUMAN	C	316;317	ENSP00000334146:R316C;ENSP00000405218:R317C	ENSP00000334146:R316C	R	-	1	0	ZNF347	58336947	0.028000	0.19301	0.001000	0.08648	0.005000	0.04900	0.833000	0.27504	0.077000	0.16863	0.655000	0.94253	CGT		0.373	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		A	53645135	G	A	53645135	3	1	181	1	0	0	0	0	1	0	0	0	17858	1145	40	1	1577	1	ZNF347	19	53645135	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	8084102	53645135	5483848	92	12849											
LILRA4	23547	broad.mit.edu	37	chr19	54850352	54850352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagagcaggcttgtgaGaatgagggtcatggcatctc	13	8	14	6	0	2	4	1	2	1	3	3	5	2	4	0	3	1	3	0	3	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:54850352G>C	ENST00000291759.4	-	1	69	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	5					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGCTTGTGAGAATGAGGGTC	0.567																																						uc002qfj.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(13-15)Ctc>Gtc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.							126	105	112					19																	54850352		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54850352G>C	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.13C>G	19.37:g.54850352G>C	ENSP00000291759:p.Leu5Val					LILRA4_uc002qfi.3_5'UTR	p.L5V	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	0	70	-	Ovarian(34;0.19)		5					Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.13C>G	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	8.328	0.825928	0.16749	.	.	ENSG00000239961	ENST00000291759	T	0.00512	6.89	2.34	-1.11	0.09840	.	0.545016	0.15685	N	0.249739	T	0.00440	0.0014	M	0.75150	2.29	0.09310	N	1	P	0.37864	0.61	B	0.28305	0.088	T	0.46527	-0.9185	10	0.59425	D	0.04	.	4.9804	0.14162	0.5024:0.0:0.4976:0.0	.	5	P59901	LIRA4_HUMAN	V	5	ENSP00000291759:L5V	ENSP00000291759:L5V	L	-	1	0	LILRA4	59542164	0.013000	0.17824	0.000000	0.03702	0.008000	0.06430	0.460000	0.21924	-0.173000	0.10761	0.557000	0.71058	CTC		0.567	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		C	54850352	G	C	54850352	3	2	181	1	0	0	0	0	1	0	0	0	8787	942	33	5	1518	5	LILRA4	19	54850352	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	1205217	54850352	4278631	93	12850											
REM1	28954	broad.mit.edu	37	chr20	30065686	30065686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagacaccacactggtggtCgtggacacctgggaggccga	10	5	15	11	2	0	1	0	0	0	1	1	5	0	3	3	5	0	0	3	5	1	0	rs147559982		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:30065686C>T	ENST00000201979.2	+	3	689	c.396C>T	c.(394-396)gtC>gtT	p.V132V	DEFB124_ENST00000481595.1_5'Flank	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	132					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572																																						uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(394-396)gtC>gtT		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	95	74	81		396	1.3	1	20	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	REM1	NM_014012.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		132/299	30065686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30065686C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.396C>T	20.37:g.30065686C>T							p.V132V	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	680	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		132					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.396C>T	CCDS13181.1																																																																																				0.572	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		T	30065686	C	T	30065686	2	4	181	1	0	0	0	0	0	0	0	1	13222	871	31	2		2	REM1	20	30065686	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08		30065686	32959834	94	12851											
PORCN	64840	broad.mit.edu	37	chrX	48371104	48371104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacggtgaccgcctccttcGcaagtgagcacagccttcga	9	7	10	15	4	0	2	0	2	0	0	3	3	1	2	4	1	3	2	4	1	2	2	rs373691543		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48371104G>A	ENST00000326194.6	+	5	726	c.683G>A	c.(682-684)cGc>cAc	p.R228H	PORCN_ENST00000355092.3_Missense_Mutation_p.R228H|PORCN_ENST00000537758.1_Missense_Mutation_p.R228H|PORCN_ENST00000355961.4_Missense_Mutation_p.R228H|PORCN_ENST00000367574.4_Missense_Mutation_p.R157H|PORCN_ENST00000361988.3_Missense_Mutation_p.R228H|PORCN_ENST00000359882.4_Missense_Mutation_p.R228H	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	228			R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance). {ECO:0000269|PubMed:18325042}.		glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTCCTTCGCAAGTGAGCA	0.622													G|||	1	0.000264901	0	0	3775	,	,		15152	0.001		0	False		,,,				2504	0					uc010nie.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(682-684)cGc>cAc		Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,1,0,1631,571	64	58	60		683,683,683,683	4.6	1	X		60	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	PORCN	NM_203475.1,NM_203474.1,NM_203473.1,NM_022825.2	29,29,29,29	0,1,1,4059,2442	AA,AG,A,GG,G		0.0149,0.0261,0.0189	benign,benign,benign,benign	228/462,228/456,228/457,228/451	48371104	2,10561	2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48371104G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.683G>A	X.37:g.48371104G>A	ENSP00000322304:p.Arg228His					PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	p.R228H	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			5	841	+			228		R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).			B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.683G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292882	0.80914	2.61E-4	1.49E-4	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.44	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	L	0.57536	1.79	0.22762	N	0.998762	D;B;P;D;D	0.57571	0.98;0.433;0.717;0.98;0.98	P;B;B;P;P	0.49332	0.585;0.13;0.115;0.585;0.607	T	0.63028	-0.6728	10	0.14656	T	0.56	-12.2709	11.3201	0.49417	0.091:0.0:0.909:0.0	.	228;228;157;228;228	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	H	228;228;157;228;228;228;228	ENSP00000352946:R228H;ENSP00000446401:R228H;ENSP00000356546:R157H;ENSP00000348233:R228H;ENSP00000354978:R228H;ENSP00000322304:R228H;ENSP00000347207:R228H	ENSP00000322304:R228H	R	+	2	0	PORCN	48256048	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.974000	0.63771	1.066000	0.40716	0.436000	0.28706	CGC		0.622	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		A	48371104	G	A	48371104	3	1	181	1	0	0	0	0	1	0	0	0	12258	1087	38	1	701	1	PORCN	23	48371104	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		48371104	106899456	95	12852											
PQBP1	10084	broad.mit.edu	37	chrX	48759746	48759746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagggcaaagaacggCgccaccatcgccgggaggag	12	1	18	10	4	0	2	0	0	0	2	1	5	0	5	3	5	1	1	3	5	3	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48759746C>T	ENST00000376563.1	+	5	729	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Missense_Mutation_p.R177C|PQBP1_ENST00000447146.2_Missense_Mutation_p.R177C|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000218224.4_Missense_Mutation_p.R177C|PQBP1_ENST00000247140.4_Intron	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	177	Arg-rich.|Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAAGAACGGCGCCACCATCG	0.612													C|||	1	0.000264901	0	0	3775	,	,		13410	0		0	False		,,,				2504	0.001					uc004dlh.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						c.(529-531)Cgc>Tgc		Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.							33	24	27					X																	48759746		2200	4298	6498	SO:0001583	missense	10084				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	g.chrX:48759746C>T	AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"Sutherland-Haan X-linked mental retardation syndrome", "mental retardation, X-linked 55", "mental retardation, X-linked 2 (non-dysmorphic)"	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.529C>T	X.37:g.48759746C>T	ENSP00000365747:p.Arg177Cys					PQBP1_uc022bvv.1_Missense_Mutation_p.R169C|PQBP1_uc004dle.3_Missense_Mutation_p.R177C|PQBP1_uc004dlf.3_Missense_Mutation_p.R177C|PQBP1_uc004dlg.3_Missense_Mutation_p.R177C|PQBP1_uc004dln.3_Missense_Mutation_p.R177C|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dlm.3_Missense_Mutation_p.R135C|PQBP1_uc010nii.3_Missense_Mutation_p.R135C|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Missense_Mutation_p.R77C	p.R177C	NM_001032384	NP_005701	O60828	PQBP1_HUMAN			4	638	+			177			Arg-rich.		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	ENST00000376563.1	37	c.529C>T	CCDS14309.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772936	0.90108	.	.	ENSG00000102103	ENST00000376563;ENST00000447146;ENST00000218224;ENST00000396763;ENST00000443648	T;T;T;T;T	0.79141	-1.22;-1.22;-1.22;-1.22;-1.24	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	0.983;1.0;1.0;1.0;1.0	B;D;D;D;D	0.85130	0.197;0.997;0.996;0.984;0.99	D	0.84305	0.0507	10	0.52906	T	0.07	-14.1243	14.4704	0.67512	0.0:1.0:0.0:0.0	.	77;177;177;177;177	O60828-5;O60828-2;C9JQA1;O60828-3;O60828	.;.;.;.;PQBP1_HUMAN	C	177	ENSP00000365747:R177C;ENSP00000391759:R177C;ENSP00000218224:R177C;ENSP00000379985:R177C;ENSP00000414861:R177C	ENSP00000218224:R177C	R	+	1	0	PQBP1	48644690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.962000	0.49176	2.483000	0.83821	0.600000	0.82982	CGC		0.612	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1		T	48759746	C	T	48759746	3	4	181	1	0	0	0	0	1	0	0	0	12417	768	27	1	543	1	PQBP1	23	48759746	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	388642	48759746	106510814	96	12853											
CHM	1121	broad.mit.edu	37	chrX	85156121	85156121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcacatgttctcaggAaagtaactgtcctccacgag	11	9	10	11	2	1	1	1	1	1	0	4	3	3	2	2	1	2	3	2	1	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:85156121A>T	ENST00000357749.2	-	10	1346	c.1317T>A	c.(1315-1317)ttT>ttA	p.F439L	MIR361_ENST00000362181.1_RNA|CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.F291L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	439					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTTCTCAGGAAAGTAACTGT	0.393																																						uc004eet.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(1315-1317)ttT>ttA		Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.							80	64	69					X																	85156121		2203	4299	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85156121A>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1317T>A	X.37:g.85156121A>T	ENSP00000350386:p.Phe439Leu					CHM_uc011mqz.2_Missense_Mutation_p.F291L	p.F439L	NM_000390	NP_000381	P24386	RAE1_HUMAN			9	1347	-		all_lung(315;5.41e-06)	439					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1317T>A	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.822601	0.00589	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85013	-1.93;-1.93	5.41	2.92	0.33932	.	0.428787	0.27591	N	0.018689	T	0.49115	0.1538	N	0.00258	-1.755	0.24625	N	0.99366	B	0.02656	0.0	B	0.04013	0.001	T	0.53380	-0.8447	10	0.02654	T	1	-17.073	8.0506	0.30575	0.5451:0.3839:0.071:0.0	.	439	P24386	RAE1_HUMAN	L	439;291	ENSP00000350386:F439L;ENSP00000441728:F291L	ENSP00000350386:F439L	F	-	3	2	CHM	85042777	1.000000	0.71417	0.999000	0.59377	0.268000	0.26511	2.886000	0.48578	0.260000	0.21731	-0.507000	0.04495	TTT		0.393	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		T	85156121	A	T	85156121	3	4	181	1	0	0	0	0	1	0	0	0	3350	243	9	5	668	5	CHM	23	85156121	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	36396375	85156121	70114439	97	12854											
CXorf61	203413	broad.mit.edu	37	chrX	115592953	115592953	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacctctgaaacccttgctAagtagagtatgttccagttc	10	12	8	11	0	1	2	0	1	1	1	3	2	2	2	3	0	2	6	3	0	4	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:115592953A>C	ENST00000371894.4	-	2	443	c.297T>G	c.(295-297)ctT>ctG	p.L99L		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		99						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						AACCCTTGCTAAGTAGAGTAT	0.418																																						uc004eqj.1																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(295-297)ctT>ctG		Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.							178	149	159					X																	115592953		2203	4300	6503	SO:0001819	synonymous_variant	203413					integral to membrane|plasma membrane		g.chrX:115592953A>C																												ENST00000371894.4:c.297T>G	X.37:g.115592953A>C							p.L99L	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			1	417	-			99						Silent	SNP	ENST00000371894.4	37	c.297T>G	CCDS35372.1																																																																																				0.418	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			C	115592953	A	C	115592953	2	2	181	1	0	0	0	0	0	0	0	1	4116	349	13	5		5	CXorf61	23	115592953	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	30436832	115592953	39677607	98	12855											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825762	135825762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactggatttaatttcacGgacataattactggggaacc	13	11	8	9	1	1	0	1	0	0	0	1	3	1	3	2	4	2	0	2	4	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:135825762G>A	ENST00000250617.6	-	5	1848	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R61C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R61C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R61C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	215	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAATTTCACGGACATAATTA	0.388																																						uc004fab.3																			0		p.R215H(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(643-645)Cgt>Tgt		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							145	126	133					X																	135825762		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825762G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.643C>T	X.37:g.135825762G>A	ENSP00000250617:p.Arg215Cys					ARHGEF6_uc011mwd.2_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.R61C	p.R215C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			4	1105	-	Acute lymphoblastic leukemia(192;0.000127)		215			SH3.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.643C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281715	0.59758	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.74	3.73	0.42828	Src homology-3 domain (4);Variant SH3 (1);	0.052346	0.64402	D	0.000001	T	0.46756	0.1409	L	0.48260	1.515	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76575	0.953;0.988	T	0.46373	-0.9196	10	0.87932	D	0	.	12.5216	0.56062	0.0:0.0:0.523:0.4769	.	61;215	B7Z3C7;Q15052	.;ARHG6_HUMAN	C	215;61;61;61;61	ENSP00000250617:R215C;ENSP00000359654:R61C;ENSP00000359656:R61C;ENSP00000439483:R61C	ENSP00000250617:R215C	R	-	1	0	ARHGEF6	135653428	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	2.330000	0.43885	1.113000	0.41760	0.600000	0.82982	CGT		0.388	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		A	135825762	G	A	135825762	3	1	181	1	0	0	0	0	1	0	0	0	910	1116	39	2	1759	2	ARHGEF6	23	135825762	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	20232809	135825762	19444798	99	12856											
MCF2	4168	broad.mit.edu	37	chrX	138668562	138668562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttctgcctgaactgaCgcaattgcctcacagacctc	8	12	7	14	1	2	3	1	2	1	1	3	3	2	3	3	0	4	2	3	0	2	3	rs142128026	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:138668562C>T	ENST00000370576.4	-	23	2816	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	MCF2_ENST00000520602.1_Silent_p.A929A|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000519895.1_Silent_p.A945A|MCF2_ENST00000370578.4_Silent_p.A1014A|MCF2_ENST00000338585.6_Silent_p.A885A|MCF2_ENST00000414978.1_Silent_p.A929A	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	869					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTGAACTGACGCAATTGCCT	0.413													c|||	1	0.000264901	8e-04	0	3775	,	,		12371	0		0	False		,,,				2504	0					uc011mwn.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62								Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.		T	,,,,,	0,3835		0,0,0,1632,571	170	136	147		2787,2835,,,2655,2607	-7	0	X	dbSNP_134	147	2,6726		0,1,1,2427,1871	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	MCF2	NM_001099855.1,NM_001171876.1,NM_001171877.1,NM_001171878.1,NM_001171879.1,NM_005369.4	,,,,,	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	,,,,,	929/986,945/1002,,,885/942,869/926	138668562	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138668562C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2607G>A	X.37:g.138668562C>T						MCF2_uc004fav.3_Silent_p.A885A|MCF2_uc004fau.3_Silent_p.A869A|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Silent_p.A846A|MCF2_uc011mwo.1_Silent_p.A945A|MCF2_uc004faw.2_Silent_p.A929A		NM_001171878	NP_001165349	P10911	MCF2_HUMAN					-	Acute lymphoblastic leukemia(192;0.000127)							B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37		CCDS14667.1	.	.	.	.	.	.	.	.	.	.	c	3.388	-0.124852	0.06795	0.0	2.97E-4	ENSG00000101977	ENST00000437564	.	.	.	5.15	-6.99	0.01605	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26710	-1.0095	4	.	.	.	.	8.2212	0.31543	0.0:0.3486:0.178:0.4734	.	.	.	.	I	373	.	.	V	-	1	0	MCF2	138496228	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.576000	0.00425	-2.307000	0.00653	-0.822000	0.03109	GTC		0.413	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		T	138668562	C	T	138668562	2	4	181	1	0	0	0	0	0	0	0	1	9378	523	19	1		1	MCF2	23	138668562	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	2842800	138668562	16601998	100	12857											
IDS	3423	broad.mit.edu	37	chrX	148564457	148564457	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatagtctatggtgcgtatGgaatagcccatgatctttat	10	15	9	7	1	2	1	0	1	2	0	2	2	2	2	1	2	2	1	1	2	7	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:148564457G>T	ENST00000340855.6	-	9	1682	c.1473C>A	c.(1471-1473)tcC>tcA	p.S491S	IDS_ENST00000541269.1_Silent_p.S280S|IDS_ENST00000537071.1_Silent_p.S94S|IDS_ENST00000422081.2_Silent_p.S280S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	491			S -> F (in MPS2; mild form). {ECO:0000269|PubMed:10220152}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGTGCGTATGGAATAGCCCA	0.433																																						uc011mxe.2																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(1471-1473)tcC>tcA		Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.							124	117	119					X																	148564457		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148564457G>T	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1473C>A	X.37:g.148564457G>T						IDS_uc011mxd.2_Silent_p.S94S|IDS_uc011mxf.2_Silent_p.S401S|IDS_uc011mxg.2_Silent_p.S280S|IDS_uc010nsu.2_Silent_p.S101S|IDS_uc004fcw.4_Silent_p.S280S	p.S491S	NM_000202	NP_000193	P22304	IDS_HUMAN			8	1690	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		491		S -> F (in MPS2; mild form).			D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.1473C>A	CCDS14685.1																																																																																				0.433	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			T	148564457	G	T	148564457	2	4	181	1	0	0	0	0	0	0	0	1	7503	1335	47	5		5	IDS	23	148564457	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	9895895	148564457	6706103	101	12858											
DKC1	1736	broad.mit.edu	37	chrX	154001511	154001511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacttaccctcggaagtgggGtttaggtccaaaggtaagtg	10	10	13	8	1	0	0	0	0	0	0	2	1	1	1	2	5	1	2	2	5	5	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:154001511G>C	ENST00000369550.5	+	11	1352	c.1142G>C	c.(1141-1143)gGt>gCt	p.G381A	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	381					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAAGTGGGGTTTAGGTCCA	0.408									Congenital Dyskeratosis																													uc004fmm.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1141-1143)gGt>gCt		Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.							100	80	86					X																	154001511		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154001511G>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1142G>C	X.37:g.154001511G>C	ENSP00000358563:p.Gly381Ala					DKC1_uc010nvf.3_Missense_Mutation_p.G381A|SNORA56_uc004fmo.3_5'Flank	p.G381A	NM_001363	NP_001354	O60832	DKC1_HUMAN			10	1352	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		381					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1142G>C	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.414695	0.83449	.	.	ENSG00000130826	ENST00000369550	D	0.99859	-7.23	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.89968	3.075	0.80722	D	1	D;D	0.71674	0.988;0.998	P;P	0.56916	0.712;0.809	D	0.96784	0.9577	10	0.87932	D	0	-20.9649	16.9475	0.86233	0.0:0.0:1.0:0.0	.	381;381	A8MUT5;O60832	.;DKC1_HUMAN	A	381	ENSP00000358563:G381A	ENSP00000358563:G381A	G	+	2	0	DKC1	153654705	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	9.364000	0.97136	2.315000	0.78130	0.597000	0.82753	GGT		0.408	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		C	154001511	G	C	154001511	3	2	181	1	0	0	0	0	1	0	0	0	4542	1261	44	5	1184	5	DKC1	23	154001511	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	5437054	154001511	1269049	102	12859											
COL16A1	1307	broad.mit.edu	37	chr1	32163660	32163660	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acactcagcatcagcttgtgCcaacgcaagtcgaagagctg	12	7	10	12	2	2	1	2	0	0	1	3	2	2	1	1	0	5	4	1	0	3	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:32163660C>T	ENST00000373672.3	-	6	1020	c.504G>A	c.(502-504)tgG>tgA	p.W168*	COL16A1_ENST00000271069.6_Nonsense_Mutation_p.W168*|COL16A1_ENST00000373668.3_Nonsense_Mutation_p.W168*	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	168	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCAGCTTGTGCCAACGCAAGT	0.642																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			0		p.R167S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(502-504)tgG>tgA		Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.							43	50	47					1																	32163660		2166	4263	6429	SO:0001587	stop_gained	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32163660C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.504G>A	1.37:g.32163660C>T	ENSP00000362776:p.Trp168*					COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Nonsense_Mutation_p.W168*	p.W168*	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	5	869	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	168			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Nonsense_Mutation	SNP	ENST00000373672.3	37	c.504G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	41	8.589940	0.98875	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2316	0.86985	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000271069:W168X	W	-	3	0	COL16A1	31936247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.262000	0.72514	2.455000	0.83008	0.561000	0.74099	TGG		0.642	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32163660	C	T	32163660	4	4	182	1	0	0	0	0	0	1	0	0	3673	740	26	3	4574	3	COL16A1	1	32163660	Nonsense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		32163660	217086961	1	12860											
FGGY	55277	broad.mit.edu	37	chr1	59805657	59805657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagggattgatttaaacCaaattcgaggacttgggttt	13	13	10	5	1	0	1	0	1	0	0	1	4	0	3	1	3	2	1	1	3	5	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:59805657C>T	ENST00000303721.7	+	3	403	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Nonsense_Mutation_p.Q77*|FGGY_ENST00000474476.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	77					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGATTTAAACCAAATTCGAGG	0.363																																						uc009wac.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(229-231)Caa>Taa		Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.							127	111	116					1																	59805657		1568	3582	5150	SO:0001587	stop_gained	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59805657C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.229C>T	1.37:g.59805657C>T	ENSP00000305922:p.Gln77*					FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Nonsense_Mutation_p.Q77*|FGGY_uc001czl.4_Intron	p.Q77*	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN			2	441	+	all_cancers(7;7.36e-05)		77					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Nonsense_Mutation	SNP	ENST00000303721.7	37	c.229C>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533149	0.85812	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721	.	.	.	5.36	3.45	0.39498	.	0.387780	0.26875	N	0.022051	.	.	.	.	.	.	0.20638	N	0.999871	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4176	6.5518	0.22438	0.1507:0.7006:0.0:0.1487	.	.	.	.	X	77	.	.	Q	+	1	0	FGGY	59578245	0.041000	0.20044	0.062000	0.19696	0.994000	0.84299	1.704000	0.37857	1.486000	0.48398	0.561000	0.74099	CAA		0.363	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		T	59805657	C	T	59805657	4	4	182	1	0	0	0	0	0	1	0	0	5871	595	21	3	235	3	FGGY	1	59805657	Nonsense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	27641997	59805657	189444964	2	12861											
MSH4	4438	broad.mit.edu	37	chr1	76349367	76349367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatcctattcttgaaaaAatatctgcggaaaaacctat	15	12	6	8	1	2	1	0	1	2	0	3	2	3	2	2	2	2	1	2	2	8	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:76349367A>T	ENST00000263187.3	+	15	2072	c.1968A>T	c.(1966-1968)aaA>aaT	p.K656N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	656					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTTGAAAAAATATCTGCGG	0.313								Mismatch excision repair (MMR)																														uc001dhd.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1966-1968)aaA>aaT	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.							78	81	80					1																	76349367		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76349367A>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1968A>T	1.37:g.76349367A>T	ENSP00000263187:p.Lys656Asn						p.K656N	NM_002440	NP_002431	O15457	MSH4_HUMAN			14	2083	+			656					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1968A>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808645	0.50421	.	.	ENSG00000057468	ENST00000263187	D	0.86562	-2.14	5.84	4.72	0.59763	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.172811	0.48767	D	0.000167	T	0.69806	0.3152	L	0.28344	0.845	0.38035	D	0.935281	B	0.26602	0.154	B	0.29267	0.1	T	0.73553	-0.3946	10	0.72032	D	0.01	-25.1358	8.0392	0.30511	0.8581:0.0:0.1419:0.0	.	656	O15457	MSH4_HUMAN	N	656	ENSP00000263187:K656N	ENSP00000263187:K656N	K	+	3	2	MSH4	76121955	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.095000	0.41729	2.224000	0.72417	0.491000	0.48974	AAA		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		T	76349367	A	T	76349367	3	4	182	1	0	0	0	0	1	0	0	0	9872	11	1	5	2026	5	MSH4	1	76349367	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	16543710	76349367	172901254	3	12862											
SYCP1	6847	broad.mit.edu	37	chr1	115487554	115487554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaaagaaattgataagcGatgtcaacataaaatagctg	20	8	8	5	1	1	3	1	1	0	2	1	4	1	3	0	0	3	1	0	0	7	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:115487554G>A	ENST00000369522.3	+	25	2345	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	SYCP1_ENST00000369518.1_Missense_Mutation_p.R702Q	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	702					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGATAAGCGATGTCAACAT	0.254																																						uc001efr.3																		RGS22/SYCP1(2)	0		p.R702*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2104-2106)cGa>cAa		Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.							39	40	40					1																	115487554		2200	4285	6485	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115487554G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2105G>A	1.37:g.115487554G>A	ENSP00000358535:p.Arg702Gln					SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R702Q|SYCP1_uc009wgw.3_Missense_Mutation_p.R702Q	p.R702Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	24	2314	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	702					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2105G>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478890	0.84747	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57107	0.42;0.42;0.42	4.91	4.91	0.64330	.	0.080155	0.50627	D	0.000118	T	0.63954	0.2555	M	0.67953	2.075	0.34182	D	0.671088	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65376	-0.6183	10	0.39692	T	0.17	-5.3104	17.6979	0.88286	0.0:0.0:1.0:0.0	.	702;702	B7ZLS9;Q15431	.;SYCP1_HUMAN	Q	702	ENSP00000358535:R702Q;ENSP00000410011:R702Q;ENSP00000358531:R702Q	ENSP00000358531:R702Q	R	+	2	0	SYCP1	115289077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.130000	0.64745	2.268000	0.75426	0.650000	0.86243	CGA		0.254	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		A	115487554	G	A	115487554	3	1	182	1	0	0	0	0	1	0	0	0	15428	1058	37	2	2199	2	SYCP1	1	115487554	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	39138187	115487554	133763067	4	12863											
PTGFRN	5738	broad.mit.edu	37	chr1	117484643	117484643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccaaggccactacaaatGttcaacccccagcacagatg	15	5	7	14	0	1	2	1	0	0	2	1	2	1	2	4	1	3	2	4	1	4	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:117484643G>T	ENST00000393203.2	+	2	503	c.356G>T	c.(355-357)tGt>tTt	p.C119F		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	119	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CACTACAAATGTTCAACCCCC	0.562																																						uc001egv.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(355-357)tGt>tTt		Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.							111	103	106					1																	117484643		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484643G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.356G>T	1.37:g.117484643G>T	ENSP00000376899:p.Cys119Phe						p.C119F	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	1	493	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	119			Ig-like C2-type 1.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.356G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091855	0.76756	.	.	ENSG00000134247	ENST00000393203	T	0.31247	1.5	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54549	-0.8277	10	0.66056	D	0.02	-19.7906	16.3503	0.83202	0.0:0.0:1.0:0.0	.	119	Q9P2B2	FPRP_HUMAN	F	119	ENSP00000376899:C119F	ENSP00000376899:C119F	C	+	2	0	PTGFRN	117286166	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	8.381000	0.90152	2.546000	0.85860	0.467000	0.42956	TGT		0.562	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		T	117484643	G	T	117484643	3	4	182	1	0	0	0	0	1	0	0	0	12750	1377	48	5	362	5	PTGFRN	1	117484643	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	1997089	117484643	131765978	5	12864											
CR2	1380	broad.mit.edu	37	chr1	207649599	207649599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttcatagggtgtccacctCcgcctaagacccctaacggg	8	8	9	16	2	1	1	1	0	0	1	3	1	3	1	7	2	1	0	7	2	3	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:207649599C>T	ENST00000367058.3	+	14	2749	c.2560C>T	c.(2560-2562)Ccg>Tcg	p.P854S	CR2_ENST00000367059.3_Intron|CR2_ENST00000367057.3_Missense_Mutation_p.P913S|CR2_ENST00000458541.2_Missense_Mutation_p.P827S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	854	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGTCCACCTCCGCCTAAGAC	0.493																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2560-2562)Ccg>Tcg		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							142	126	131					1																	207649599		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207649599C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2560C>T	1.37:g.207649599C>T	ENSP00000356025:p.Pro854Ser					CR2_uc001hfv.3_Missense_Mutation_p.P913S|CR2_uc009xch.3_Intron	p.P854S	NM_001877	NP_001868	P20023	CR2_HUMAN			13	2679	+			854			Sushi 14.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2560C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988593	0.53934	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	D;D;D	0.84516	-1.86;-1.86;-1.86	4.78	4.78	0.61160	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.94666	0.8280	H	0.97103	3.94	0.42561	D	0.993143	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95589	0.8653	9	0.54805	T	0.06	.	14.0291	0.64604	0.0:1.0:0.0:0.0	.	854;913	P20023;P20023-3	CR2_HUMAN;.	S	854;913;827	ENSP00000356025:P854S;ENSP00000356024:P913S;ENSP00000404222:P827S	ENSP00000356024:P913S	P	+	1	0	CR2	205716222	0.212000	0.23540	0.212000	0.23672	0.470000	0.32858	1.617000	0.36943	2.595000	0.87683	0.655000	0.94253	CCG		0.493	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207649599	C	T	207649599	3	4	182	1	0	0	0	0	1	0	0	0	3842	855	30	3	2795	3	CR2	1	207649599	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	90164956	207649599	41601022	6	12865											
SOS1	6654	broad.mit.edu	37	chr2	39262448	39262448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttgaaaccttcgcctaTtgactggaaaaaaaagtgat	14	13	7	7	1	1	3	0	3	1	0	2	4	1	4	2	1	1	0	2	1	6	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:39262448T>C	ENST00000426016.1	-	9	1065	c.979A>G	c.(979-981)Ata>Gta	p.I327V	SOS1_ENST00000428721.2_Missense_Mutation_p.I270V|SOS1_ENST00000402219.2_Missense_Mutation_p.I327V|SOS1_ENST00000395038.2_Missense_Mutation_p.I327V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	327	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTTCGCCTATTGACTGGAAA	0.338									Noonan syndrome																													uc002rrk.4																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(979-981)Ata>Gta		Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.							54	58	57					2																	39262448		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39262448T>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.979A>G	2.37:g.39262448T>C	ENSP00000387784:p.Ile327Val					SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_5'UTR|SOS1_uc002rrl.3_Missense_Mutation_p.I59V	p.I327V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			7	1020	-		all_hematologic(82;0.21)	327			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.979A>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	6.918	0.538947	0.13250	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.72	4.55	0.56014	Dbl homology (DH) domain (5);	0.090109	0.64402	D	0.000001	T	0.45577	0.1349	L	0.27053	0.805	0.47905	D	0.999545	B;B	0.11235	0.002;0.004	B;B	0.10450	0.002;0.005	T	0.26883	-1.0090	10	0.09843	T	0.71	.	12.1827	0.54221	0.1281:0.0:0.0:0.8719	.	59;327	F5GX06;Q07889	.;SOS1_HUMAN	V	327;327;59;327;327;270	ENSP00000387784:I327V;ENSP00000384675:I327V;ENSP00000378479:I327V;ENSP00000399992:I270V	ENSP00000263879:I327V	I	-	1	0	SOS1	39115952	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.182000	0.50910	0.973000	0.38340	-0.344000	0.07964	ATA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		C	39262448	T	C	39262448	3	2	182	1	0	0	0	0	1	0	0	0	14936	1493	52	4	3086	4	SOS1	2	39262448	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08		39262448	203936925	7	12866											
SLC4A5	57835	broad.mit.edu	37	chr2	74462257	74462257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actgggcacatgcagcttggGagtttctaggccaaaacagg	11	8	13	9	0	1	0	0	0	1	0	1	1	1	1	1	4	3	4	1	4	3	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:74462257G>C	ENST00000377634.4	-	22	2803	c.2404C>G	c.(2404-2406)Ccc>Gcc	p.P802A	SLC4A5_ENST00000357822.5_Missense_Mutation_p.P802A|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P802A|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P802A|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P802A|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P802A					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAGCTTGGGAGTTTCTAGG	0.547																																						uc002sko.1																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2404-2406)Ccc>Gcc		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.							149	115	127					2																	74462257		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74462257G>C	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2404C>G	2.37:g.74462257G>C	ENSP00000366861:p.Pro802Ala					SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	p.P802A	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			16	2406	-			802						Missense_Mutation	SNP	ENST00000377634.4	37	c.2404C>G	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506447	0.85282	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.8	4.8	0.61643	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	M	0.85777	2.775	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90416	0.4413	10	0.87932	D	0	.	15.7804	0.78255	0.0:0.0:1.0:0.0	.	802;802;802	Q9BY07-4;Q9BY07;Q9BY07-3	.;S4A5_HUMAN;.	A	802	ENSP00000377587:P802A;ENSP00000251768:P802A;ENSP00000395804:P802A;ENSP00000350475:P802A;ENSP00000366859:P802A;ENSP00000366861:P802A	ENSP00000251768:P802A	P	-	1	0	SLC4A5	74315765	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.519000	0.98025	2.673000	0.90976	0.650000	0.86243	CCC		0.547	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			C	74462257	G	C	74462257	3	2	182	1	0	0	0	0	1	0	0	0	14657	1174	41	5	1049	5	SLC4A5	2	74462257	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	35199809	74462257	168737116	8	12867											
LRP2	4036	broad.mit.edu	37	chr2	170092415	170092415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaagtccatgtaatcaaGataggagtccatgaagtaga	18	8	9	6	0	1	3	1	1	0	2	3	4	3	4	2	1	0	2	2	1	7	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:170092415G>A	ENST00000263816.3	-	29	5140	c.4855C>T	c.(4855-4857)Ctt>Ttt	p.L1619F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1619					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATGTAATCAAGATAGGAGTCC	0.453																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4855-4857)Ctt>Ttt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						138	125	129					2																	170092415		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170092415G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4855C>T	2.37:g.170092415G>A	ENSP00000263816:p.Leu1619Phe						p.L1619F	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	5068	-			1619					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4855C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505387	0.85282	.	.	ENSG00000081479	ENST00000263816	D	0.96396	-4.0	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98136	1.0433	10	0.44086	T	0.13	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	1619	P98164	LRP2_HUMAN	F	1619	ENSP00000263816:L1619F	ENSP00000263816:L1619F	L	-	1	0	LRP2	169800661	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.361000	0.73070	2.793000	0.96121	0.655000	0.94253	CTT		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170092415	G	A	170092415	3	1	182	1	0	0	0	0	1	0	0	0	8956	942	33	3	9316	3	LRP2	2	170092415	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	95630158	170092415	73106958	9	12868											
TTN	7273	broad.mit.edu	37	chr2	179410964	179410964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgaccatgacagacacGgccttggtcccgctggcatt	8	10	10	13	2	0	3	0	2	0	1	1	3	1	3	3	3	0	2	3	3	0	3	rs373509153	byFrequency	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179410964G>A	ENST00000591111.1	-	292	90395	c.90171C>T	c.(90169-90171)gcC>gcT	p.A30057A	TTN_ENST00000342992.6_Silent_p.A29130A|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.A22633A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A22758A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.A31698A|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.A22825A|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30057	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGACACGGCCTTGGTCC	0.428													G|||	2	0.000399361	0.0015	0	5008	,	,		24366	0		0	False		,,,				2504	0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87388-87390)gcC>gcT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	2,3950		0,2,1974	239	235	236		67899,87390,68274,68475	-11.3	0.1	2		236	0,8300		0,0,4150	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6124	AA,AG,GG		0.0,0.0506,0.0163	,,,	22633/26927,29130/33424,22758/27052,22825/27119	179410964	2,12250	1976	4150	6126	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410964G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90171C>T	2.37:g.179410964G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A22825A|TTN_uc021vta.1_Silent_p.A22758A|TTN_uc021vtb.1_Silent_p.A22633A	p.A29130A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	87615	-			30057			Fibronectin type-III 112.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.87390C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179410964	G	A	179410964	2	1	182	1	0	0	0	0	0	0	0	1	16732	1103	39	2		2	TTN	2	179410964	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	9318549	179410964	63788409	10	12869											
TTN	7273	broad.mit.edu	37	chr2	179462736	179462736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgtagaatgctccttccTttaatcctgtcacaacaagc	11	14	5	11	0	1	1	1	0	0	1	4	1	4	1	3	0	3	2	3	0	5	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179462736T>A	ENST00000591111.1	-	243	52462	c.52238A>T	c.(52237-52239)aAg>aTg	p.K17413M	TTN_ENST00000342992.6_Missense_Mutation_p.K16486M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9989M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10114M|TTN_ENST00000589042.1_Missense_Mutation_p.K19054M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10181M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17413	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCCTTCCTTTAATCCTGT	0.383																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49456-49458)aAg>aTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							231	230	230					2																	179462736		1855	4104	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462736T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52238A>T	2.37:g.179462736T>A	ENSP00000465570:p.Lys17413Met					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K10181M|TTN_uc021vta.1_Missense_Mutation_p.K10114M|TTN_uc021vtb.1_Missense_Mutation_p.K9989M	p.K16486M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		241	49682	-			17413			Fibronectin type-III 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49457A>T		.	.	.	.	.	.	.	.	.	.	T	16.75	3.208675	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76579	0.4007	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79215	-0.1895	9	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	9989;10114;10181;17413	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16486;9989;10181;10114;9987	ENSP00000343764:K16486M;ENSP00000434586:K9989M;ENSP00000340554:K10181M;ENSP00000352154:K10114M	ENSP00000340554:K10181M	K	-	2	0	TTN	179170981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.937000	0.87672	2.371000	0.80710	0.533000	0.62120	AAG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179462736	T	A	179462736	3	1	182	1	0	0	0	0	1	0	0	0	16732	1609	56	5	50812	5	TTN	2	179462736	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08	51772	179462736	63736637	11	12870											
MAP2	4133	broad.mit.edu	37	chr2	210518141	210518141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggagagctgacctcagctGacagagaaacagcaggtaac	15	4	12	10	1	1	4	1	2	0	2	1	6	1	4	1	2	5	4	1	2	2	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:210518141G>C	ENST00000360351.4	+	4	753	c.247G>C	c.(247-249)Gac>Cac	p.D83H	MAP2_ENST00000392194.1_Missense_Mutation_p.D83H|MAP2_ENST00000447185.1_Missense_Mutation_p.D83H|MAP2_ENST00000361559.4_Missense_Mutation_p.D83H|MAP2_ENST00000199940.6_Missense_Mutation_p.D83H	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	83					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GACCTCAGCTGACAGAGAAAC	0.463																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(247-249)Gac>Cac		Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	Estramustine(DB01196)						95	99	98					2																	210518141		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210518141G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.247G>C	2.37:g.210518141G>C	ENSP00000353508:p.Asp83His					MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	p.D83H	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	3	495	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	83					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.247G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135869	0.56936	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.01	5.01	0.66863	.	0.547248	0.16476	N	0.212771	T	0.29093	0.0723	N	0.24115	0.695	0.42476	D	0.992843	D;P;P;B;D;P	0.71674	0.998;0.729;0.884;0.38;0.998;0.877	D;B;P;B;P;B	0.65773	0.938;0.354;0.739;0.308;0.868;0.365	T	0.01839	-1.1263	10	0.29301	T	0.29	-11.3781	12.7638	0.57380	0.0816:0.0:0.9184:0.0	.	83;83;84;83;83;83	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	H	83;83;83;83;83;83;83;9	ENSP00000199940:D83H;ENSP00000376031:D83H;ENSP00000353508:D83H;ENSP00000355290:D83H;ENSP00000409969:D83H;ENSP00000376032:D83H;ENSP00000392164:D83H;ENSP00000388824:D9H	ENSP00000199940:D83H	D	+	1	0	MAP2	210226386	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.781000	0.62389	2.329000	0.79093	0.643000	0.83706	GAC		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		C	210518141	G	C	210518141	3	2	182	1	0	0	0	0	1	0	0	0	9235	1290	45	5	249	5	MAP2	2	210518141	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	31055405	210518141	32681232	12	12871											
ST3GAL6	10402	broad.mit.edu	37	chr3	98506930	98506930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagttgggagaaggaCaaccttccgacttttttatc	13	11	10	7	1	0	3	0	0	0	3	2	6	1	4	2	2	1	1	2	2	5	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:98506930C>T	ENST00000483910.1	+	7	771	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.T161I|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.T43I|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	161					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGGAGAAGGACAACCTTCCGA	0.378																																						uc003dtc.3																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(481-483)aCa>aTa		Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.							97	96	96					3																	98506930		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98506930C>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.482C>T	3.37:g.98506930C>T	ENSP00000417376:p.Thr161Ile					ST3GAL6_uc003dsy.3_Missense_Mutation_p.T75I|ST3GAL6_uc003dsz.3_Missense_Mutation_p.T161I|ST3GAL6_uc003dta.3_Missense_Mutation_p.T43I|ST3GAL6_uc010hpd.3_Missense_Mutation_p.T214I	p.T161I	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			7	949	+			161					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.482C>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178053	0.78564	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.80824	0.4697	H	0.94620	3.56	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85871	0.1416	10	0.87932	D	0	-39.9726	17.2504	0.87041	0.0:1.0:0.0:0.0	.	184;43;161	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	I	161;43;129;161;161;129;184;75	ENSP00000417376:T161I;ENSP00000265261:T43I;ENSP00000417584:T129I;ENSP00000418896:T161I;ENSP00000377717:T161I;ENSP00000418650:T129I;ENSP00000417201:T184I;ENSP00000419202:T75I	ENSP00000265261:T43I	T	+	2	0	ST3GAL6	99989620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.333000	0.65917	2.671000	0.90904	0.563000	0.77884	ACA		0.378	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		T	98506930	C	T	98506930	3	4	182	1	0	0	0	0	1	0	0	0	15218	478	17	3	504	3	ST3GAL6	3	98506930	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		98506930	99515500	13	12872											
MYLK	4638	broad.mit.edu	37	chr3	123457797	123457797	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcttgcaggagaatcGtcccatctgtccttctttga	8	14	9	10	1	3	3	0	2	3	1	6	4	5	3	2	1	1	1	2	1	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:123457797G>A	ENST00000475616.1	-	4	534	c.535C>T	c.(535-537)Cga>Tga	p.R179*	MYLK_ENST00000359169.1_Nonsense_Mutation_p.R179*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.R179*|MYLK_ENST00000360772.3_Nonsense_Mutation_p.R179*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.R179*			Q15746	MYLK_HUMAN	myosin light chain kinase	179	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGAGAATCGTCCCATCTGT	0.582																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(535-537)Cga>Tga		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							86	72	77					3																	123457797		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123457797G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.535C>T	3.37:g.123457797G>A	ENSP00000418335:p.Arg179*					MYLK_uc011bjw.2_Nonsense_Mutation_p.R179*|MYLK_uc003egp.3_Nonsense_Mutation_p.R179*|MYLK_uc003egq.3_Nonsense_Mutation_p.R179*|MYLK_uc003egr.3_Nonsense_Mutation_p.R179*|MYLK_uc003egs.3_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	p.R179*	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	6	817	-		Lung NSC(201;0.0496)	179			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.535C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	36	5.841707	0.97016	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2321	0.54495	0.0:0.0:0.8291:0.1709	.	.	.	.	X	179	.	ENSP00000320622:R179X	R	-	1	2	MYLK	124940487	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.638000	0.54332	2.497000	0.84241	0.655000	0.94253	CGA		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		A	123457797	G	A	123457797	4	1	182	1	0	0	0	0	0	1	0	0	10056	1153	40	1	5321	1	MYLK	3	123457797	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	24950867	123457797	74564633	14	12873											
DCUN1D4	23142	broad.mit.edu	37	chr4	52765498	52765498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatcattcttaaatgattCtacaaactttaaacttattt	16	17	2	6	0	3	2	1	1	2	1	3	2	3	2	0	0	3	0	0	0	8	8			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:52765498C>G	ENST00000334635.5	+	8	749	c.569C>G	c.(568-570)tCt>tGt	p.S190C	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.S130C|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.S190C|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.S234C	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	190	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTAAATGATTCTACAAACTTT	0.348																																						uc011bzo.2																			0		p.P233S(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(700-702)tCt>tGt		Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.							44	44	44					4																	52765498		2200	4297	6497	SO:0001583	missense	23142							g.chr4:52765498C>G	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.569C>G	4.37:g.52765498C>G	ENSP00000334625:p.Ser190Cys					DCUN1D4_uc003gze.3_Missense_Mutation_p.S190C|DCUN1D4_uc003gzf.3_Missense_Mutation_p.S190C|DCUN1D4_uc011bzn.2_Missense_Mutation_p.S130C|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	p.S234C	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		7	708	+			190			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.701C>G	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816729	0.70912	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288	.	.	.	6.03	6.03	0.97812	Domain of unknown function DUF298 (2);	0.378221	0.33327	N	0.005024	T	0.66925	0.2839	L	0.56280	1.765	0.36000	D	0.837346	D;B;P	0.63046	0.992;0.143;0.716	P;B;P	0.58520	0.84;0.428;0.563	T	0.74702	-0.3576	9	0.87932	D	0	-9.7665	12.4536	0.55691	0.0:0.9236:0.0:0.0764	.	234;190;190	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	C	190;190;130;234	.	ENSP00000334625:S190C	S	+	2	0	DCUN1D4	52460255	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.900000	0.63252	2.868000	0.98415	0.557000	0.71058	TCT		0.348	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		G	52765498	C	G	52765498	3	3	182	1	0	0	0	0	1	0	0	0	4316	913	32	5	599	5	DCUN1D4	4	52765498	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		52765498	138388778	15	12874											
EPHA5	2044	broad.mit.edu	37	chr4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatgcatcttttcctcttCtggatcttgttttgctttgc	6	20	6	9	0	4	0	0	0	4	0	5	1	5	1	1	1	3	3	1	1	2	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:66233108C>T	ENST00000273854.3	-	10	2491	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA5_ENST00000511294.1_Missense_Mutation_p.E632K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E468K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E609K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	631					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)																												uc003hcy.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1891-1893)Gaa>Aaa		Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.							140	120	127					4																	66233108		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66233108C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1891G>A	4.37:g.66233108C>T	ENSP00000273854:p.Glu631Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.3_Missense_Mutation_p.E563K|EPHA5_uc003hcz.3_Missense_Mutation_p.E609K|EPHA5_uc011cah.2_Missense_Mutation_p.E632K|EPHA5_uc011cai.2_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	p.E631K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			9	2084	-			631					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1891G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868863	0.91587	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000071	T	0.13157	0.0319	L	0.43923	1.385	0.58432	D	0.999996	B;B;P;P	0.44627	0.444;0.014;0.58;0.839	B;B;B;B	0.39379	0.206;0.017;0.281;0.298	T	0.01561	-1.1324	10	0.72032	D	0.01	.	18.5097	0.90911	0.0:1.0:0.0:0.0	.	610;632;609;631	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	631;468;609;632	ENSP00000273854:E631K;ENSP00000389208:E468K;ENSP00000346899:E609K;ENSP00000427638:E632K	ENSP00000273854:E631K	E	-	1	0	EPHA5	65915703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.760000	0.85248	2.465000	0.83290	0.460000	0.39030	GAA		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		T	66233108	C	T	66233108	3	4	182	1	0	0	0	0	1	0	0	0	5170	922	32	3	1258	3	EPHA5	4	66233108	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	13467610	66233108	124921168	16	12875											
SULT1B1	27284	broad.mit.edu	37	chr4	70596362	70596362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcattcaggttcttctctAgaaatctaatgatcttcttg	10	17	5	9	0	7	2	2	1	5	1	8	2	7	2	0	1	0	1	0	1	3	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596362A>G	ENST00000310613.3	-	7	932	c.635T>C	c.(634-636)cTa>cCa	p.L212P		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTCTCTAGAAATCTAAT	0.338																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(634-636)cTa>cCa		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							132	123	126					4																	70596362		2202	4300	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596362A>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.635T>C	4.37:g.70596362A>G	ENSP00000308770:p.Leu212Pro						p.L212P	NM_014465	NP_055280	O43704	ST1B1_HUMAN			6	933	-			212					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.635T>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820884	0.50633	.	.	ENSG00000173597	ENST00000310613	T	0.04603	3.59	4.09	2.86	0.33363	Sulfotransferase domain (1);	0.200798	0.24470	N	0.038248	T	0.31670	0.0804	H	0.98238	4.18	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.27020	-1.0086	10	0.87932	D	0	.	8.9686	0.35892	0.8119:0.1881:0.0:0.0	.	212	O43704	ST1B1_HUMAN	P	212	ENSP00000308770:L212P	ENSP00000308770:L212P	L	-	2	0	SULT1B1	70630951	1.000000	0.71417	0.575000	0.28536	0.955000	0.61496	3.447000	0.52936	0.539000	0.28788	0.383000	0.25322	CTA		0.338	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		G	70596362	A	G	70596362	3	3	182	1	0	0	0	0	1	0	0	0	15373	420	15	4	263	4	SULT1B1	4	70596362	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	4363254	70596362	120557914	17	12876			1	34		2	2	22	A		4.273614e-05
SULT1B1	27284	broad.mit.edu	37	chr4	70596383	70596383	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctaatgatcttcttgAtttcctcctttggattctat	9	19	5	8	0	4	2	0	2	4	0	6	4	6	3	2	1	0	0	2	1	3	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596383A>C	ENST00000310613.3	-	7	911	c.614T>G	c.(613-615)aTc>aGc	p.I205S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	205					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATCTTCTTGATTTCCTCCTT	0.328																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(613-615)aTc>aGc		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							103	98	99					4																	70596383		2202	4300	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596383A>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.614T>G	4.37:g.70596383A>C	ENSP00000308770:p.Ile205Ser						p.I205S	NM_014465	NP_055280	O43704	ST1B1_HUMAN			6	912	-			205					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.614T>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480560	0.44044	.	.	ENSG00000173597	ENST00000310613	D	0.85629	-2.01	4.09	4.09	0.47781	Sulfotransferase domain (1);	0.128764	0.34802	N	0.003667	D	0.91945	0.7449	H	0.95437	3.67	0.34061	D	0.657258	P	0.48407	0.91	P	0.52309	0.695	D	0.95978	0.8975	10	0.87932	D	0	.	11.3366	0.49507	1.0:0.0:0.0:0.0	.	205	O43704	ST1B1_HUMAN	S	205	ENSP00000308770:I205S	ENSP00000308770:I205S	I	-	2	0	SULT1B1	70630972	0.999000	0.42202	0.929000	0.37066	0.628000	0.37860	4.161000	0.58170	1.633000	0.50488	0.383000	0.25322	ATC		0.328	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		C	70596383	A	C	70596383	3	2	182	1	0	0	0	0	1	0	0	0	15373	333	12	5	284	5	SULT1B1	4	70596383	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	21	70596383	120557893	18	12877			1	34		2	2	22	A		4.273614e-05
C4orf35	85438	broad.mit.edu	37	chr4	71201006	71201006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaagatgatatggggaccGactttattaagtcaacaact	15	10	9	7	1	1	3	1	1	0	2	1	5	1	4	1	2	2	0	1	2	6	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:71201006G>A	ENST00000273936.5	+	1	324	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	84					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.D84N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATGGGGACCGACTTTATTAA	0.363																																						uc003hff.3																			1	Substitution - Missense(1)	p.D84N(2)|p.T83T(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(250-252)Gac>Aac		Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.							61	62	62					4																	71201006		2203	4298	6501	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201006G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.250G>A	4.37:g.71201006G>A	ENSP00000273936:p.Asp84Asn					CABS1_uc021xoz.1_Missense_Mutation_p.D84N	p.D84N	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			0	336	+			84					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.250G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.973843	0.00452	.	.	ENSG00000145309	ENST00000273936	T	0.23754	1.89	4.67	-1.53	0.08611	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	9	0.05351	T	0.99	-38.0083	0.1972	0.00141	0.2978:0.2743:0.1513:0.2766	.	84	Q96KC9	CABS1_HUMAN	N	84	ENSP00000273936:D84N	ENSP00000273936:D84N	D	+	1	0	CABS1	71235595	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.507000	0.06352	-0.224000	0.09928	-0.270000	0.10280	GAC		0.363	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		A	71201006	G	A	71201006	3	1	182	1	0	0	0	0	1	0	0	0	2265	1058	37	2	252	2	C4orf35	4	71201006	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	604623	71201006	119953270	19	12878											
TACR3	6870	broad.mit.edu	37	chr4	104510963	104510963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgttgctcttttcttcCgactggacctggtggtgtct	2	17	12	10	2	3	0	0	0	3	0	4	2	4	1	2	4	1	2	2	4	0	5	rs202051644		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:104510963C>T	ENST00000304883.2	-	5	1414	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	425					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCTTTTCTTCCGACTGGACCT	0.502																																						uc003hxe.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1273-1275)cGg>cAg		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	238	222	227		1274	2.9	0.3	4		227	1,8599	2.2+/-6.3	0,1,4299	no	missense	TACR3	NM_001059.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	425/466	104510963	2,13004	2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510963C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1274G>A	4.37:g.104510963C>T	ENSP00000303325:p.Arg425Gln						p.R425Q	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1415	-		Hepatocellular(203;0.217)	425					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1274G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975263	0.18736	2.27E-4	1.16E-4	ENSG00000169836	ENST00000304883	T	0.64260	-0.09	5.54	2.92	0.33932	.	0.369357	0.23626	N	0.046191	T	0.53769	0.1817	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41016	-0.9532	10	0.13853	T	0.58	.	8.7063	0.34356	0.0:0.6316:0.0:0.3684	.	425	P29371	NK3R_HUMAN	Q	425	ENSP00000303325:R425Q	ENSP00000303325:R425Q	R	-	2	0	TACR3	104730412	0.001000	0.12720	0.303000	0.25071	0.363000	0.29612	0.291000	0.18994	0.315000	0.23110	-0.216000	0.12614	CGG		0.502	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		T	104510963	C	T	104510963	3	4	182	1	0	0	0	0	1	0	0	0	15504	652	23	2	127	2	TACR3	4	104510963	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	33309957	104510963	86643313	20	12879											
NDST3	9348	broad.mit.edu	37	chr4	119064755	119064755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcactcacaccattttCtacaaagaatatccaggggg	12	12	6	11	0	3	1	2	0	1	1	4	1	4	1	2	2	1	0	2	2	4	6			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:119064755C>T	ENST00000296499.5	+	6	1858	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	NDST3_ENST00000433996.2_Silent_p.F404F	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	485	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACACCATTTTCTACAAAGAAT	0.383																																						uc003ibx.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1453-1455)ttC>ttT		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.							60	60	60					4																	119064755		2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119064755C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1455C>T	4.37:g.119064755C>T						NDST3_uc011cgf.1_Silent_p.F404F	p.F485F	NM_004784	NP_004775	O95803	NDST3_HUMAN			5	1858	+			485			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1455C>T	CCDS3708.1																																																																																				0.383	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		T	119064755	C	T	119064755	2	4	182	1	0	0	0	0	0	0	0	1	10257	912	32	3		3	NDST3	4	119064755	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	14553792	119064755	72089521	21	12880											
DNAH5	1767	broad.mit.edu	37	chr5	13841162	13841162	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattagttttctgcatgatTtttttatcaaacttggcatt	9	21	6	5	0	2	2	1	2	1	0	2	2	2	2	0	1	2	3	0	1	3	9			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:13841162T>A	ENST00000265104.4	-	34	5666	c.5562A>T	c.(5560-5562)aaA>aaT	p.K1854N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1854	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCATGATTTTTTTATCAA	0.398									Kartagener syndrome																													uc003jfd.2																			0		p.K1853N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5560-5562)aaA>aaT		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							140	137	138					5																	13841162		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841162T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5562A>T	5.37:g.13841162T>A	ENSP00000265104:p.Lys1854Asn						p.K1854N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5604	-	Lung NSC(4;0.00476)		1854			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5562A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133439	0.37630	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.77	3.38	0.38709	.	0.107792	0.64402	D	0.000008	T	0.20088	0.0483	L	0.45228	1.405	0.45930	D	0.998765	B	0.16802	0.019	B	0.18561	0.022	T	0.04781	-1.0927	10	0.30078	T	0.28	.	8.4327	0.32769	0.0:0.2944:0.0:0.7056	.	1854	Q8TE73	DYH5_HUMAN	N	1854	ENSP00000265104:K1854N	ENSP00000265104:K1854N	K	-	3	2	DNAH5	13894162	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.309000	0.33539	0.456000	0.26937	-0.256000	0.11100	AAA		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13841162	T	A	13841162	3	1	182	1	0	0	0	0	1	0	0	0	4604	1838	64	5	8496	5	DNAH5	5	13841162	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08		13841162	167074098	22	12881											
MCCC2	64087	broad.mit.edu	37	chr5	70945048	70945048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggggctcctatggagcCggaaactatgggatgtgtgg	8	10	17	6	1	0	0	0	0	0	0	1	3	1	3	2	6	2	1	2	6	3	3	rs548725229		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:70945048C>T	ENST00000340941.6	+	14	1470	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MCCC2_ENST00000323375.8_Silent_p.A409A	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	447	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCTATGGAGCCGGAAACTATG	0.463													C|||	1	0.000199681	0	0	5008	,	,		17324	0.001		0	False		,,,				2504	0					uc003kbs.4																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1339-1341)gcC>gcT		Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	Biotin(DB00121)						85	83	83					5																	70945048		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70945048C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1341C>T	5.37:g.70945048C>T						MCCC2_uc003kbt.4_Non-coding_Transcript	p.A447A	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	13	1479	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	447			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.1341C>T	CCDS34184.1																																																																																				0.463	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			T	70945048	C	T	70945048	2	4	182	1	0	0	0	0	0	0	0	1	9375	639	23	2		2	MCCC2	5	70945048	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	57103886	70945048	109970212	23	12882											
SLC22A5	6584	broad.mit.edu	37	chr5	131729366	131729366	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctccgtctgctttgccatAggtgcctacgaccgcttcct	4	12	10	15	3	1	0	0	0	1	0	3	1	3	0	5	2	4	3	5	2	2	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:131729366A>G	ENST00000245407.3	+	9	1671		c.e9-1		SLC22A5_ENST00000479605.1_Splice_Site|SLC22A5_ENST00000435065.2_Splice_Site	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5						carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCTTTGCCATAGGTGCCTACG	0.562																																						uc003kwx.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.e10-2		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	L-Carnitine(DB00583)						186	179	182					5																	131729366		2203	4300	6503	SO:0001630	splice_region_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131729366A>G	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1451-1A>G	5.37:g.131729366A>G						SLC22A5_uc003kww.4_Splice_Site_p.G484_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	p.G508_splice	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1787	+		all_cancers(142;0.0751)|Breast(839;0.198)	484		F -> L.			A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Splice_Site	SNP	ENST00000245407.3	37	c.1523_splice	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.136209	0.56936	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A5	131757265	1.000000	0.71417	0.934000	0.37439	0.501000	0.33797	8.785000	0.91822	2.326000	0.78906	0.533000	0.62120	.		0.562	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060	Intron	G	131729366	A	G	131729366	5	3	182	1	0	0	0	0	0	0	1	0	14457	434	15	4	1483	4	SLC22A5	5	131729366	Splice_Site	SNP	A	TCGA-27-1830-01A-01W-0643-08	60784318	131729366	49185894	24	12883											
MAT2B	27430	broad.mit.edu	37	chr5	162945327	162945327	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaaagaatcactttggccTttcctcattgacaagagatg	13	12	7	9	0	3	3	3	1	0	2	4	4	4	3	2	1	0	0	2	1	3	3	rs199689662		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:162945327T>G	ENST00000321757.6	+	7	1102	c.963T>G	c.(961-963)ccT>ccG	p.P321P	MAT2B_ENST00000280969.5_Silent_p.P310P|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.2_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	321					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	CACTTTGGCCTTTCCTCATTG	0.388																																						uc003lzk.3																			0		p.T320M(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(961-963)ccT>ccG		Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						115	107	110					5																	162945327		2203	4300	6503	SO:0001819	synonymous_variant	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162945327T>G	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.963T>G	5.37:g.162945327T>G						MAT2B_uc003lzj.3_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.3_Silent_p.P61P	p.P321P	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	6	1071	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	321					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Silent	SNP	ENST00000321757.6	37	c.963T>G	CCDS4365.1																																																																																				0.388	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283		G	162945327	T	G	162945327	2	3	182	1	0	0	0	0	0	0	0	1	9331	1596	56	5		5	MAT2B	5	162945327	Silent	SNP	T	TCGA-27-1830-01A-01W-0643-08	31215961	162945327	17969933	25	12884											
PKHD1	5314	broad.mit.edu	37	chr6	51941121	51941121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacgatgggtgtctgcGccttggaaaactgtttagaa	10	11	14	6	2	1	2	0	1	1	1	1	4	1	3	1	3	3	1	1	3	5	3	rs374645464		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:51941121G>A	ENST00000371117.3	-	6	676	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A134V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	134					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A134V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTGTCTGCGCCTTGGAAAA	0.393																																						uc003pah.1																			1	Substitution - Missense(1)	p.A134V(2)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(400-402)gCg>gTg		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	95	98	97		401,401	0.7	0.9	6		97	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PKHD1	NM_170724.2,NM_138694.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	134/3397,134/4075	51941121	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51941121G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.401C>T	6.37:g.51941121G>A	ENSP00000360158:p.Ala134Val					PKHD1_uc003pai.3_Missense_Mutation_p.A134V	p.A134V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	677	-	Lung NSC(77;0.0605)		134					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.401C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011727	0.19277	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.03;-2.23	5.74	0.699	0.18093	.	0.596054	0.16585	N	0.208034	T	0.59636	0.2208	L	0.34521	1.04	0.18873	N	0.999988	B;B	0.23650	0.055;0.089	B;B	0.15870	0.014;0.006	T	0.50056	-0.8872	10	0.23302	T	0.38	.	7.6693	0.28449	0.1295:0.0:0.3003:0.5702	.	134;134	P08F94-2;P08F94	.;PKHD1_HUMAN	V	134	ENSP00000360158:A134V;ENSP00000341097:A134V	ENSP00000341097:A134V	A	-	2	0	PKHD1	52049080	0.006000	0.16342	0.885000	0.34714	0.616000	0.37450	0.023000	0.13533	-0.088000	0.12506	-0.822000	0.03109	GCG		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51941121	G	A	51941121	3	1	182	1	0	0	0	0	1	0	0	0	11971	1087	38	1	12110	1	PKHD1	6	51941121	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		51941121	119173946	26	12885											
IBTK	25998	broad.mit.edu	37	chr6	82924066	82924066	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctcttctgcctctcactAactgtttgagcttgattact	6	18	6	11	0	3	2	1	2	3	0	4	2	3	2	1	0	5	3	1	0	2	6			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:82924066A>C	ENST00000306270.7	-	12	2631	c.2082T>G	c.(2080-2082)gtT>gtG	p.V694V	IBTK_ENST00000510291.1_Silent_p.V694V|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	694					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCCTCTCACTAACTGTTTGAG	0.338																																						uc003pjl.1																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2080-2082)gtT>gtG		Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.							118	124	122					6																	82924066		2203	4300	6503	SO:0001819	synonymous_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924066A>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2082T>G	6.37:g.82924066A>C						IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	p.V694V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	11	2609	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	694					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	c.2082T>G	CCDS34490.1																																																																																				0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		C	82924066	A	C	82924066	2	2	182	1	0	0	0	0	0	0	0	1	7476	349	13	5		5	IBTK	6	82924066	Silent	SNP	A	TCGA-27-1830-01A-01W-0643-08	30982945	82924066	88191001	27	12886											
SESN1	27244	broad.mit.edu	37	chr6	109319765	109319765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcatccacactgtgattgCcatttgtaatgtcacagatg	10	14	7	10	0	2	2	2	1	1	1	4	2	3	2	2	0	1	1	2	0	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:109319765C>T	ENST00000356644.7	-	5	840	c.746G>A	c.(745-747)gGc>gAc	p.G249D	SESN1_ENST00000436639.2_Missense_Mutation_p.G308D|SESN1_ENST00000302071.2_Missense_Mutation_p.G183D|RP11-787I22.3_ENST00000605885.1_RNA	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	249					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACTGTGATTGCCATTTGTAAT	0.398																																						uc003psu.3																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(922-924)gGc>gAc		Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.							132	116	122					6																	109319765		2203	4299	6502	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109319765C>T	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.746G>A	6.37:g.109319765C>T	ENSP00000349061:p.Gly249Asp					SESN1_uc021zdp.1_Missense_Mutation_p.G183D|SESN1_uc003pst.4_Missense_Mutation_p.G249D	p.G308D	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	4	1355	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	249					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.923G>A	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173450	0.78452	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.22336	1.96;1.96;1.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	N	0.25201	0.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01149	-1.1436	10	0.06757	T	0.87	-33.1161	20.5407	0.99260	0.0:1.0:0.0:0.0	.	308;249	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	D	308;183;249	ENSP00000393762:G308D;ENSP00000306734:G183D;ENSP00000349061:G249D	ENSP00000306734:G183D	G	-	2	0	SESN1	109426458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	2.865000	0.98341	0.655000	0.94253	GGC		0.398	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		T	109319765	C	T	109319765	3	4	182	1	0	0	0	0	1	0	0	0	14124	739	26	3	756	3	SESN1	6	109319765	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	26395699	109319765	61795302	28	12887											
ZNF804B	219578	broad.mit.edu	37	chr7	88966247	88966247	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcctttaatccaaccagtAttccaaggtcaagatttttg	13	14	5	9	0	1	1	1	0	0	1	4	1	4	1	4	1	1	1	4	1	6	6			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:88966247A>G	ENST00000333190.4	+	4	4560	c.3951A>G	c.(3949-3951)gtA>gtG	p.V1317V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1317							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAACCAGTATTCCAAGGTC	0.413										HNSCC(36;0.09)																												uc011khi.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3949-3951)gtA>gtG		Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.							133	135	134					7																	88966247		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88966247A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3951A>G	7.37:g.88966247A>G		HNSCC(36;0.09)					p.V1317V	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	4489	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1317					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.3951A>G	CCDS5613.1																																																																																				0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88966247	A	G	88966247	2	3	182	1	0	0	0	0	0	0	0	1	18168	436	16	4		4	ZNF804B	7	88966247	Silent	SNP	A	TCGA-27-1830-01A-01W-0643-08		88966247	70172416	29	12888											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518248	113518248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtttagactcaggataagGgtgcttctcaataccctgga	11	11	11	8	0	2	1	2	0	1	1	3	3	2	3	1	4	2	2	1	4	4	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:113518248G>T	ENST00000284601.3	-	4	2967	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	967					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGGATAAGGGTGCTTCTCA	0.383																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2899-2901)Cct>Act		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							91	90	91					7																	113518248		2202	4298	6500	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518248G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2899C>A	7.37:g.113518248G>T	ENSP00000284601:p.Pro967Thr						p.P967T	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	2930	-			967					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2899C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	0.100	-1.154220	0.01700	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	4.61	-4.98	0.03019	.	1.635940	0.03337	N	0.194306	T	0.13756	0.0333	L	0.51422	1.61	0.09310	N	1	B	0.30763	0.294	B	0.22152	0.038	T	0.18398	-1.0338	10	0.35671	T	0.21	.	6.4737	0.22024	0.4312:0.3388:0.23:0.0	.	967	Q16821	PPR3A_HUMAN	T	967	ENSP00000284601:P967T	ENSP00000284601:P967T	P	-	1	0	PPP1R3A	113305484	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.166000	0.03129	-1.164000	0.02790	0.650000	0.86243	CCT		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113518248	G	T	113518248	3	4	182	1	0	0	0	0	1	0	0	0	12371	1232	43	5	473	5	PPP1R3A	7	113518248	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	24552001	113518248	45620415	30	12889											
PLXNA4	91584	broad.mit.edu	37	chr7	131866156	131866156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctttaggatgatgggcGtgccaggcttgagctccagg	7	9	14	11	1	0	2	0	2	0	0	1	3	1	3	4	4	2	2	4	4	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:131866156G>A	ENST00000359827.3	-	18	4438	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1159M			Q9HCM2	PLXA4_HUMAN	plexin A4	1159	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T1159M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGATGGGCGTGCCAGGCTT	0.582																																						uc003vra.4																			2	Substitution - Missense(2)	p.T1159M(2)	kidney(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3475-3477)aCg>aTg		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							158	165	162					7																	131866156		1952	4140	6092	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866156G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3476C>T	7.37:g.131866156G>A	ENSP00000352882:p.Thr1159Met						p.T1159M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			17	3705	-			1159			IPT/TIG 4.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3476C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053605	0.75960	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.65732	-0.17;-0.17	5.1	5.1	0.69264	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	2.295700	0.01679	N	0.026049	T	0.70413	0.3221	L	0.36672	1.1	0.47994	D	0.999563	D	0.56521	0.976	P	0.52793	0.709	T	0.56950	-0.7894	10	0.62326	D	0.03	.	15.1678	0.72842	0.0:0.1515:0.8485:0.0	.	1159	Q9HCM2	PLXA4_HUMAN	M	1159	ENSP00000323194:T1159M;ENSP00000352882:T1159M	ENSP00000323194:T1159M	T	-	2	0	PLXNA4	131516696	1.000000	0.71417	0.938000	0.37757	0.978000	0.69477	6.290000	0.72712	2.381000	0.81170	0.561000	0.74099	ACG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131866156	G	A	131866156	3	1	182	1	0	0	0	0	1	0	0	0	12122	1145	40	1	2268	1	PLXNA4	7	131866156	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	18347908	131866156	27272507	31	12890											
GIMAP8	155038	broad.mit.edu	37	chr7	150171329	150171329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgatcattgatgctccGgacatctcatctttaaagaa	11	14	7	9	2	3	2	2	1	2	1	6	4	4	3	1	1	1	2	1	1	3	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:150171329G>A	ENST00000307271.3	+	4	1486	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	304	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGATGCTCCGGACATCTCAT	0.458																																						uc003whj.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(910-912)ccG>ccA		Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.							78	85	83					7																	150171329		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171329G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.912G>A	7.37:g.150171329G>A							p.P304P	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	3	1242	+			304						Silent	SNP	ENST00000307271.3	37	c.912G>A	CCDS34777.1																																																																																				0.458	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150171329	G	A	150171329	2	1	182	1	0	0	0	0	0	0	0	1	6385	1103	39	2		2	GIMAP8	7	150171329	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	18305173	150171329	8967334	32	12891											
TEX15	56154	broad.mit.edu	37	chr8	30702861	30702861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttattacttcattagCgtcacaactgttttctttag	9	20	4	8	1	4	0	3	0	1	0	4	0	4	0	0	0	3	1	0	0	5	10			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:30702861C>T	ENST00000256246.2	-	1	3747	c.3673G>A	c.(3673-3675)Gct>Act	p.A1225T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1225					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTTCATTAGCGTCACAACTG	0.299																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3673-3675)Gct>Act		Homo sapiens testis expressed 15 (TEX15), mRNA.							40	39	39					8																	30702861		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30702861C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3673G>A	8.37:g.30702861C>T	ENSP00000256246:p.Ala1225Thr						p.A1225T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	3673	-			1225						Missense_Mutation	SNP	ENST00000256246.2	37	c.3673G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	2.367	-0.345220	0.05208	.	.	ENSG00000133863	ENST00000256246	T	0.22945	1.93	5.66	-5.11	0.02901	.	1.038280	0.07561	N	0.917006	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.12837	0.008	T	0.29882	-0.9997	10	0.87932	D	0	.	1.6938	0.02857	0.2256:0.1985:0.1111:0.4648	.	1225	Q9BXT5	TEX15_HUMAN	T	1225	ENSP00000256246:A1225T	ENSP00000256246:A1225T	A	-	1	0	TEX15	30822403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.954000	0.03873	-0.631000	0.05560	-1.827000	0.00596	GCT		0.299	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30702861	C	T	30702861	3	4	182	1	0	0	0	0	1	0	0	0	15776	768	27	1	4712	1	TEX15	8	30702861	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		30702861	115661161	33	12892											
FAM135B	51059	broad.mit.edu	37	chr8	139209806	139209806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgcatgatcaccaggAagtggagacggagaccccgg	10	5	14	12	3	1	3	1	1	0	2	2	6	2	4	4	4	0	1	4	4	1	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:139209806A>G	ENST00000395297.1	-	8	946	c.776T>C	c.(775-777)tTc>tCc	p.F259S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCACCAGGAAGTGGAGACG	0.612										HNSCC(54;0.14)																												uc003yuy.3																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(775-777)tTc>tCc		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							65	75	72					8																	139209806		2143	4267	6410	SO:0001583	missense	51059							g.chr8:139209806A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.776T>C	8.37:g.139209806A>G	ENSP00000378710:p.Phe259Ser	HNSCC(54;0.14)				FAM135B_uc003yux.3_Missense_Mutation_p.F160S|FAM135B_uc003yuz.3_Non-coding_Transcript	p.F259S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		7	947	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		259					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.776T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595922	0.66332	.	.	ENSG00000147724	ENST00000395297	D	0.81579	-1.51	4.74	4.74	0.60224	.	0.273578	0.37219	N	0.002198	T	0.81777	0.4894	M	0.64404	1.975	0.30930	N	0.726992	D	0.54964	0.969	P	0.50352	0.638	T	0.83320	-0.0018	10	0.66056	D	0.02	-22.7841	10.5619	0.45150	1.0:0.0:0.0:0.0	.	259	Q49AJ0	F135B_HUMAN	S	259	ENSP00000378710:F259S	ENSP00000276737:F259S	F	-	2	0	FAM135B	139278988	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.207000	0.42788	2.001000	0.58596	0.460000	0.39030	TTC		0.612	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		G	139209806	A	G	139209806	3	3	182	1	0	0	0	0	1	0	0	0	5449	246	9	4	3496	4	FAM135B	8	139209806	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	108506945	139209806	7154216	34	12893											
ZNF79	7633	broad.mit.edu	37	chr9	130206381	130206381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaagacccatgtgtagaGatgccccctggggattcaga	10	9	11	11	0	1	3	1	0	0	3	2	5	2	4	4	2	1	1	4	2	2	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr9:130206381G>C	ENST00000342483.5	+	5	808	c.402G>C	c.(400-402)gaG>gaC	p.E134D	ZNF79_ENST00000543471.1_Missense_Mutation_p.E110D	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CATGTGTAGAGATGCCCCCTG	0.502																																						uc004bqw.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(400-402)gaG>gaC		Homo sapiens zinc finger protein 79 (ZNF79), mRNA.							96	92	94					9																	130206381		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206381G>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.402G>C	9.37:g.130206381G>C	ENSP00000362446:p.Glu134Asp					ZNF79_uc011maf.2_Missense_Mutation_p.E110D|ZNF79_uc011mag.2_Missense_Mutation_p.E110D	p.E134D	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			4	816	+			134					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.402G>C	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	9.136	1.012720	0.19277	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.07114	3.22;3.22	2.92	0.805	0.18703	.	.	.	.	.	T	0.09555	0.0235	L	0.29908	0.895	0.18873	N	0.999986	D	0.55172	0.97	P	0.51833	0.681	T	0.28299	-1.0048	9	0.45353	T	0.12	.	6.3116	0.21169	0.327:0.0:0.673:0.0	.	134	Q15937	ZNF79_HUMAN	D	134;110	ENSP00000362446:E134D;ENSP00000438418:E110D	ENSP00000362446:E134D	E	+	3	2	ZNF79	129246202	0.006000	0.16342	0.004000	0.12327	0.010000	0.07245	0.408000	0.21065	0.198000	0.20407	-0.136000	0.14681	GAG		0.502	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		C	130206381	G	C	130206381	3	2	182	1	0	0	0	0	1	0	0	0	18158	933	33	5	420	5	ZNF79	9	130206381	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		130206381	11007050	35	12894											
ANK3	288	broad.mit.edu	37	chr10	61836046	61836046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacggagaagctgatggCgtattagaggaagaacttga	14	10	13	4	2	0	5	0	2	0	3	0	7	0	6	0	3	3	2	0	3	6	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:61836046C>T	ENST00000280772.2	-	37	4784	c.4593G>A	c.(4591-4593)acG>acA	p.T1531T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1531	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCTGATGGCGTATTAGAGG	0.443																																						uc001jky.3																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4591-4593)acG>acA		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							139	126	130					10																	61836046		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61836046C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4593G>A	10.37:g.61836046C>T						ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.T1531T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			36	4931	-			1531			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4593G>A	CCDS7258.1																																																																																				0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61836046	C	T	61836046	2	4	182	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANK3	10	61836046	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		61836046	73698701	36	12895											
TLL2	7093	broad.mit.edu	37	chr10	98157009	98157009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaactccacccagagccGgctgtccgtggagacgaggg	8	4	16	13	4	0	2	0	0	0	2	2	5	2	3	4	4	2	1	4	4	1	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:98157009G>A	ENST00000357947.3	-	11	1543	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	440	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACCCAGAGCCGGCTGTCCGTG	0.587																																						uc001kml.2																			0		p.R440R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1318-1320)Cgg>Tgg		Homo sapiens tolloid-like 2 (TLL2), mRNA.							61	54	56					10																	98157009		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157009G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1318C>T	10.37:g.98157009G>A	ENSP00000350630:p.Arg440Trp					TLL2_uc009xvf.2_Missense_Mutation_p.R418W	p.R440W	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1559	-		Colorectal(252;0.0846)	440			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1318C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778161	0.70107	.	.	ENSG00000095587	ENST00000357947	T	0.19394	2.15	5.11	5.11	0.69529	CUB (5);	0.000000	0.41294	D	0.000906	T	0.31071	0.0785	M	0.88241	2.94	0.51482	D	0.999924	P	0.40282	0.711	B	0.37601	0.254	T	0.29336	-1.0015	10	0.62326	D	0.03	.	11.2005	0.48739	0.0:0.0:0.7163:0.2837	.	440	Q9Y6L7	TLL2_HUMAN	W	440	ENSP00000350630:R440W	ENSP00000350630:R440W	R	-	1	2	TLL2	98146999	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	0.819000	0.27308	2.654000	0.90174	0.650000	0.86243	CGG		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			A	98157009	G	A	98157009	3	1	182	1	0	0	0	0	1	0	0	0	15943	1115	39	2	1773	2	TLL2	10	98157009	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	36320963	98157009	37377738	37	12896											
RAG1	5896	broad.mit.edu	37	chr11	36596877	36596877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagacgctgactgccatcCtgagtcctctcattgctgag	8	10	10	13	2	1	4	1	3	1	1	4	5	3	4	3	0	2	2	3	0	0	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:36596877C>T	ENST00000299440.5	+	2	2135	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	675					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTGCCATCCTGAGTCCTCT	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2023-2025)Ctg>Ttg		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							59	53	55					11																	36596877		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596877C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2023C>T	11.37:g.36596877C>T						RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.L675L	p.L675L	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	2023	+	all_lung(20;0.226)	all_hematologic(20;0.107)	675					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2023C>T	CCDS7902.1																																																																																				0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		T	36596877	C	T	36596877	2	4	182	1	0	0	0	0	0	0	0	1	13003	680	24	3		3	RAG1	11	36596877	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		36596877	98409639	38	12897											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	12	10	8	11	1	3	0	3	0	1	0	4	0	3	0	1	1	6	4	1	1	6	3	rs370741711		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						uc001ngy.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1402-1404)ccG>ccA		Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41	42	42					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_uc009yly.3_Silent_p.P453P|FOLH1_uc009ylz.3_Silent_p.P453P|FOLH1_uc001ngz.3_Silent_p.P468P|FOLH1_uc009yma.3_Silent_p.P160P	p.P468P	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN			12	1665	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1404G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49186293	C	T	49186293	2	4	182	1	0	0	0	0	0	0	0	1	5979	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	12589416	49186293	85820223	39	12898											
VWF	7450	broad.mit.edu	37	chr12	6127888	6127888	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggtagcggatctctcGcacccgctgcaggatgtccc	5	8	12	16	3	1	0	0	0	1	0	4	2	2	2	3	3	2	4	3	3	1	1	rs61750112		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:6127888G>A	ENST00000261405.5	-	28	4950	c.4696C>T	c.(4696-4698)Cga>Tga	p.R1566*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1566	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGATCTCTCGCACCCGCTGC	0.622																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM061230	VWF	M	rs61750112	c.(4696-4698)Cga>Tga		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						52	51	52					12																	6127888		2203	4300	6503	SO:0001587	stop_gained	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6127888G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4696C>T	12.37:g.6127888G>A	ENSP00000261405:p.Arg1566*					VWF_uc010set.1_Intron	p.R1566*	NM_000552	NP_000543	P04275	VWF_HUMAN			27	4946	-			1566			VWFA 2.		Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	c.4696C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	45	11.399208	0.99556	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.0	2.02	0.26589	.	0.849217	0.09701	N	0.767029	.	.	.	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.241	0.26096	0.0:0.2528:0.4028:0.3444	rs61750112	.	.	.	X	1566	.	ENSP00000261405:R1566X	R	-	1	2	VWF	5998149	0.805000	0.28982	0.698000	0.30274	0.820000	0.46376	1.212000	0.32394	1.320000	0.45209	0.549000	0.68633	CGA		0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6127888	G	A	6127888	4	1	182	1	0	0	0	0	0	1	0	0	17243	1095	38	1	3845	1	VWF	12	6127888	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		6127888	127724007	40	12899											
CD163L1	283316	broad.mit.edu	37	chr12	7528295	7528295	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattatttaaaaatctcaCgggaacagacaactccaact	18	9	5	9	1	1	2	1	0	1	2	3	3	2	3	1	1	3	0	1	1	8	3	rs193151180		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:7528295C>T	ENST00000313599.3	-	10	2744		c.e10+1		CD163L1_ENST00000396630.1_Splice_Site|CD163L1_ENST00000416109.2_Splice_Site|CD163L1_ENST00000544331.1_Splice_Site			Q9NR16	C163B_HUMAN	CD163 molecule-like 1							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.?(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAAATCTCACGGGAACAGAC	0.468													C|||	1	0.000199681	0	0.0014	5008	,	,		-128	0		0	False		,,,				2504	0					uc010sge.2																			1	Unknown(1)	p.?(1)	prostate(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.e10+1		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	76	74	75			1.9	0	12		75	0,8600		0,0,4300	no	splice-5	CD163L1	NM_174941.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			7528295	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528295C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2686+1G>A	12.37:g.7528295C>T						CD163L1_uc001qsy.3_Splice_Site_p.R896_splice	p.R906_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			10	2742	-			896			SRCR 9.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Splice_Site	SNP	ENST00000313599.3	37	c.2716_splice	CCDS8577.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.25	2.777979	0.49786	2.27E-4	0.0	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	2.84	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6526	0.17625	0.0:0.8364:0.0:0.1636	.	.	.	.	.	-1	.	.	.	-	.	.	CD163L1	7419562	1.000000	0.71417	0.007000	0.13788	0.829000	0.46940	3.601000	0.54059	0.503000	0.28060	0.455000	0.32223	.		0.468	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	Intron	T	7528295	C	T	7528295	5	4	182	1	0	0	0	0	0	0	1	0	2968	550	19	1	1714	1	CD163L1	12	7528295	Splice_Site	SNP	C	TCGA-27-1830-01A-01W-0643-08	1400407	7528295	126323600	41	12900											
KRT8	3856	broad.mit.edu	37	chr12	53294405	53294405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaggaagttgatctcGtcggtcagcccttccaggcg	6	10	13	12	3	2	2	1	2	1	0	5	3	3	3	3	3	2	1	3	3	1	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:53294405G>A	ENST00000552551.1	-	5	1089	c.657C>T	c.(655-657)gaC>gaT	p.D219D	KRT8_ENST00000546897.1_Silent_p.D219D|KRT8_ENST00000552150.1_Silent_p.D247D|KRT8_ENST00000293308.6_Silent_p.D219D			P05787	K2C8_HUMAN	keratin 8	219	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	AGTTGATCTCGTCGGTCAGCC	0.572																																						uc009zmk.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(739-741)gaC>gaT		Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						105	103	103					12																	53294405		2203	4300	6503	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53294405G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.657C>T	12.37:g.53294405G>A						KRT8_uc001sbd.2_Silent_p.D219D|KRT8_uc009zml.1_Silent_p.D219D|KRT8_uc009zmm.1_Silent_p.D219D	p.D247D	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	4	761	-			219			Linker 12.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.741C>T	CCDS8841.1																																																																																				0.572	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		A	53294405	G	A	53294405	2	1	182	1	0	0	0	0	0	0	0	1	8493	1136	40	1		1	KRT8	12	53294405	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	45766110	53294405	80557490	42	12901											
IRAK3	11213	broad.mit.edu	37	chr12	66597512	66597512	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagactttcaagcagctGgctggatgttcgtcatattg	10	12	12	7	1	2	2	2	0	0	2	3	4	2	3	0	2	2	4	0	2	2	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:66597512G>A	ENST00000261233.4	+	2	576	c.155G>A	c.(154-156)tGg>tAg	p.W52*	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCAAGCAGCTGGCTGGATGTT	0.363																																						uc001sth.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(154-156)tGg>tAg		Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.							65	62	63					12																	66597512		2203	4300	6503	SO:0001587	stop_gained	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597512G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.155G>A	12.37:g.66597512G>A	ENSP00000261233:p.Trp52*					IRAK3_uc010ssy.2_Intron	p.W52*	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	1	257	+			52			Death.			Nonsense_Mutation	SNP	ENST00000261233.4	37	c.155G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	40	8.319843	0.98757	.	.	ENSG00000090376	ENST00000261233	.	.	.	5.93	5.93	0.95920	.	0.235349	0.38436	N	0.001692	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.2739	15.8335	0.78778	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	.	W	+	2	0	IRAK3	64883779	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.810000	0.55613	2.818000	0.97014	0.591000	0.81541	TGG		0.363	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			A	66597512	G	A	66597512	4	1	182	1	0	0	0	0	0	1	0	0	7824	1357	47	3	161	3	IRAK3	12	66597512	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	13303107	66597512	67254383	43	12902											
SBNO1	55206	broad.mit.edu	37	chr12	123794321	123794321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactgcagtaagtgtgtcCgcaaaatactgaaataacgc	16	8	8	9	2	0	1	0	1	0	0	1	1	1	1	1	0	4	3	1	0	7	3	rs145298684	byFrequency	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:123794321C>T	ENST00000602398.1	-	26	3505	c.3378G>A	c.(3376-3378)gcG>gcA	p.A1126A	SBNO1_ENST00000602750.1_Silent_p.A1125A|SBNO1_ENST00000420886.2_Silent_p.A1126A|SBNO1_ENST00000267176.4_Silent_p.A1125A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1126					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAAGTGTGTCCGCAAAATACT	0.358													C|||	3	0.000599042	0.0023	0	5008	,	,		18266	0		0	False		,,,				2504	0					uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3376-3378)gcG>gcA		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							160	158	159					12																	123794321		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794321C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3378G>A	12.37:g.123794321C>T						SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1125A|SBNO1_uc010taq.2_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	p.A1126A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	24	3378	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1126					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3378G>A	CCDS53844.1																																																																																				0.358	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		T	123794321	C	T	123794321	2	4	182	1	0	0	0	0	0	0	0	1	13862	639	23	2		2	SBNO1	12	123794321	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	57196809	123794321	10057574	44	12903											
CLCN7	1186	broad.mit.edu	37	chr16	1498997	1498997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgcccacgatcttggcGgtcatgagcaccagcatgat	9	8	11	13	4	2	2	1	2	1	0	3	3	2	2	2	2	2	2	2	2	0	1	rs369837981		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1498997G>A	ENST00000382745.4	-	19	2372	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.T565T|LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000262318.8_Silent_p.T565T	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	589					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGATCTTGGCGGTCATGAGCA	0.632																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1765-1767)acC>acT		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.		G	,	1,4397	2.1+/-5.4	0,1,2198	84	69	74		1695,1767	-10.5	0.4	16		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	565/782,589/806	1498997	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498997G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1767C>T	16.37:g.1498997G>A						CLCN7_uc002clu.2_Silent_p.T37T|CLCN7_uc002clw.2_Silent_p.T565T	p.T589T	NM_001287	NP_001278	P51798	CLCN7_HUMAN			18	1877	-		Hepatocellular(780;0.0893)	589					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1767C>T	CCDS32361.1																																																																																				0.632	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1498997	G	A	1498997	2	1	182	1	0	0	0	0	0	0	0	1	3468	1103	39	2		2	CLCN7	16	1498997	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08		1498997	88855756	45	12904											
CLCN7	1186	broad.mit.edu	37	chr16	1510943	1510943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgatctccaccgtccGgaaggcctgcagggcgcggt	5	7	15	14	5	1	1	0	1	1	0	3	2	2	2	4	4	1	2	4	4	1	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1510943G>A	ENST00000382745.4	-	5	963	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CLCN7_ENST00000448525.1_Missense_Mutation_p.R96W|CLCN7_ENST00000262318.8_Missense_Mutation_p.R96W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	120					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCCACCGTCCGGAAGGCCTGC	0.682																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(358-360)Cgg>Tgg		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							47	44	45					16																	1510943		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510943G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.358C>T	16.37:g.1510943G>A	ENSP00000372193:p.Arg120Trp					CLCN7_uc002clw.2_Missense_Mutation_p.R96W	p.R120W	NM_001287	NP_001278	P51798	CLCN7_HUMAN			4	468	-		Hepatocellular(780;0.0893)	120					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.358C>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043517	0.55003	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82803	-1.65;-1.65	4.7	3.72	0.42706	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	N	0.12746	0.255	0.80722	D	1	B;D	0.89917	0.042;1.0	B;D	0.67548	0.01;0.952	T	0.80353	-0.1418	10	0.37606	T	0.19	-29.1293	12.6978	0.57014	0.0:0.0:0.8338:0.1662	.	96;120	E9PDB9;P51798	.;CLCN7_HUMAN	W	96;73;120;62	ENSP00000410907:R96W;ENSP00000372193:R120W	ENSP00000262318:R73W	R	-	1	2	CLCN7	1450944	1.000000	0.71417	0.995000	0.50966	0.444000	0.32077	7.181000	0.77682	0.925000	0.37094	0.591000	0.81541	CGG		0.682	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1510943	G	A	1510943	3	1	182	1	0	0	0	0	1	0	0	0	3468	1115	39	2	2143	2	CLCN7	16	1510943	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	11946	1510943	88843810	46	12905											
ZNF19	7567	broad.mit.edu	37	chr16	71509676	71509676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgtataacaaactcGgaactactcgtgaaactatt	14	12	6	9	2	1	2	0	2	1	0	3	3	1	3	0	1	5	1	0	1	7	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:71509676G>A	ENST00000288177.5	-	6	1029	c.774C>T	c.(772-774)tcC>tcT	p.S258S	ZNF19_ENST00000565100.2_Silent_p.S188S|ZNF19_ENST00000564230.1_Silent_p.S258S|ZNF19_ENST00000565637.1_Silent_p.S216S|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TAACAAACTCGGAACTACTCG	0.438																																						uc010cgc.1																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22						c.(772-774)tcC>tcT		Homo sapiens zinc finger protein 19 (ZNF19), mRNA.							112	116	115					16																	71509676		2198	4300	6498	SO:0001819	synonymous_variant	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509676G>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.774C>T	16.37:g.71509676G>A						ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	p.S258S	NM_006961	NP_008892	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	5	1280	-		Ovarian(137;0.00965)	258					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	ENST00000288177.5	37	c.774C>T	CCDS10901.1																																																																																				0.438	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		A	71509676	G	A	71509676	2	1	182	1	0	0	0	0	0	0	0	1	17752	1103	39	2		2	ZNF19	16	71509676	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	69998733	71509676	18845077	47	12906											
CHST6	4166	broad.mit.edu	37	chr16	75513068	75513068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacgatgccgttgtcaCgcgccagagccttggctgtc	6	8	12	15	4	1	1	1	0	0	1	2	2	1	1	4	1	3	3	4	1	0	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:75513068C>T	ENST00000332272.4	-	3	838	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CHST6_ENST00000390664.2_Missense_Mutation_p.R220H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGTTGTCACGCGCCAGAGC	0.721																																						uc021tlj.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(658-660)cGt>cAt		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.							21	23	22					16																	75513068		2195	4286	6481	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513068C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.659G>A	16.37:g.75513068C>T	ENSP00000328983:p.Arg220His					CHST6_uc002fef.3_Missense_Mutation_p.R220H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R220H	p.R220H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			0	659	-			220					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.659G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128960	0.37533	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.97066	-4.23;-4.23	4.51	4.51	0.55191	Sulfotransferase domain (1);	0.283356	0.32175	N	0.006462	D	0.96153	0.8746	M	0.83953	2.67	0.19300	N	0.999978	P	0.42456	0.78	B	0.40565	0.333	D	0.90867	0.4743	10	0.15066	T	0.55	.	14.7052	0.69186	0.0:1.0:0.0:0.0	.	220	Q9GZX3	CHST6_HUMAN	H	220	ENSP00000328983:R220H;ENSP00000375079:R220H	ENSP00000328983:R220H	R	-	2	0	CHST6	74070569	0.943000	0.32029	0.662000	0.29724	0.835000	0.47333	3.095000	0.50235	2.048000	0.60808	0.591000	0.81541	CGT		0.721	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		T	75513068	C	T	75513068	3	4	182	1	0	0	0	0	1	0	0	0	3408	536	19	1	532	1	CHST6	16	75513068	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	4003392	75513068	14841685	48	12907											
SLC38A8	146167	broad.mit.edu	37	chr16	84066963	84066963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggcgatctcccgcGgggcagacaggggcaggatg	8	5	18	10	3	2	1	0	0	2	1	3	4	2	3	1	7	0	2	1	7	1	0	rs200233980		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:84066963G>A	ENST00000299709.3	-	3	499	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	167					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCTCCCGCGGGGCAGACAG	0.652													G|||	1	0.000199681	0	0	5008	,	,		13768	0.001		0	False		,,,				2504	0					uc002fhg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(499-501)cCg>cTg		Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.		G	LEU/PRO	0,4400		0,0,2200	80	93	88		500	3.8	0	16		88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC38A8	NM_001080442.1	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	167/436	84066963	1,12999	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84066963G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.500C>T	16.37:g.84066963G>A	ENSP00000299709:p.Pro167Leu						p.P167L	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			2	500	-			167						Missense_Mutation	SNP	ENST00000299709.3	37	c.500C>T	CCDS32495.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.796	1.179268	0.21787	0.0	1.16E-4	ENSG00000166558	ENST00000299709	T	0.01725	4.67	4.77	3.8	0.43715	.	0.059794	0.64402	N	0.000002	T	0.02047	0.0064	L	0.49350	1.555	0.58432	D	0.999998	P	0.45348	0.856	B	0.39562	0.303	T	0.62101	-0.6925	10	0.10377	T	0.69	.	11.4753	0.50295	0.0892:0.0:0.9108:0.0	.	167	A6NNN8	S38A8_HUMAN	L	167	ENSP00000299709:P167L	ENSP00000299709:P167L	P	-	2	0	SLC38A8	82624464	1.000000	0.71417	0.018000	0.16275	0.011000	0.07611	5.906000	0.69900	1.111000	0.41721	0.643000	0.83706	CCG		0.652	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		A	84066963	G	A	84066963	3	1	182	1	0	0	0	0	1	0	0	0	14610	1116	39	2	839	2	SLC38A8	16	84066963	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	8553895	84066963	6287790	49	12908											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	182	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		7577538	73617672	50	12909											
MSL1	339287	broad.mit.edu	37	chr17	38285515	38285515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaaatccccatttggaaGtacagaaagaaagactcctg	16	8	9	8	0	0	3	0	0	0	3	2	5	2	5	3	2	1	1	3	2	6	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:38285515G>A	ENST00000398532.4	+	3	1325	c.1010G>A	c.(1009-1011)aGt>aAt	p.S337N	MSL1_ENST00000577454.1_Missense_Mutation_p.S337N|MSL1_ENST00000578648.1_Missense_Mutation_p.S337N|MSL1_ENST00000579565.1_Missense_Mutation_p.S74N	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	337					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCATTTGGAAGTACAGAAAGA	0.333																																						uc002hub.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(406-408)aGt>aAt		Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.							54	56	56					17																	38285515		1790	4064	5854	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38285515G>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1010G>A	17.37:g.38285515G>A	ENSP00000381543:p.Ser337Asn					MSL1_uc002hua.4_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc021txa.1_Non-coding_Transcript|MSL1_uc002hud.3_5'Flank	p.S136N	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN			2	426	+			337			Pro-rich.		Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.407G>A		.	.	.	.	.	.	.	.	.	.	G	12.32	1.903991	0.33628	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.82	4.85	0.62838	.	0.272676	0.49916	N	0.000123	T	0.31231	0.0790	N	0.22421	0.69	0.30503	N	0.770236	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.08179	T	0.78	-20.1512	13.6928	0.62556	0.0757:0.0:0.9243:0.0	.	337	Q68DK7	MSL1_HUMAN	N	74;337	.	ENSP00000341409:S74N	S	+	2	0	MSL1	35539041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.857000	0.39399	1.439000	0.47511	0.563000	0.77884	AGT		0.333	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		A	38285515	G	A	38285515	3	1	182	1	0	0	0	0	1	0	0	0	9877	1029	36	3	227	3	MSL1	17	38285515	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	30707977	38285515	42909695	51	12910											
IFI35	3430	broad.mit.edu	37	chr17	41166266	41166266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaggccctgacagtcGtaccccaaggacagcagggc	11	4	14	12	1	0	2	0	1	0	1	1	3	0	3	3	4	2	3	3	4	3	2	rs375429330		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:41166266G>A	ENST00000415816.2	+	7	1034	c.811G>A	c.(811-813)Gta>Ata	p.V271I	IFI35_ENST00000438323.2_Missense_Mutation_p.V273I	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	271				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCTGACAGTCGTACCCCAAGG	0.632																																						uc021txx.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(817-819)Gta>Ata		Homo sapiens interferon-induced protein 35 (IFI35), mRNA.		T	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	63	57	59		817	1.6	0.1	17		59	0,8600		0,0,4300	no	missense	IFI35	NM_005533.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	273/289	41166266	1,13005	2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41166266G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.811G>A	17.37:g.41166266G>A	ENSP00000394579:p.Val271Ile						p.V273I	NM_005533	NP_005524	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	6	1040	+		Breast(137;0.00499)	271	EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).				C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.817G>A		.	.	.	.	.	.	.	.	.	.	g	1.138	-0.650521	0.03506	2.27E-4	0.0	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.47528	0.84;0.84	5.8	1.64	0.23874	.	0.531595	0.20051	N	0.100299	T	0.33585	0.0868	L	0.52364	1.645	0.09310	N	1	B	0.23128	0.08	B	0.15052	0.012	T	0.17899	-1.0354	10	0.20519	T	0.43	.	4.9574	0.14048	0.2906:0.0:0.5736:0.1358	.	271	P80217	IN35_HUMAN	I	271;273	ENSP00000394579:V271I;ENSP00000395590:V273I	ENSP00000394579:V271I	V	+	1	0	IFI35	38419792	0.826000	0.29277	0.105000	0.21289	0.028000	0.11728	1.217000	0.32455	0.115000	0.18071	-2.785000	0.00117	GTA		0.632	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		A	41166266	G	A	41166266	3	1	182	1	0	0	0	0	1	0	0	0	7516	1145	40	1	843	1	IFI35	17	41166266	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	2880751	41166266	40028944	52	12911											
ACE	1636	broad.mit.edu	37	chr17	61566027	61566027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctgacgaatgtgatggCcacgtcccggaaatatgaag	13	8	12	8	3	1	4	0	3	1	1	2	6	2	5	2	2	0	0	2	2	4	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:61566027C>T	ENST00000290866.4	+	16	2348	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	ACE_ENST00000421982.2_Missense_Mutation_p.A85V|ACE_ENST00000290863.6_Missense_Mutation_p.A201V|ACE_ENST00000428043.1_Missense_Mutation_p.A775V|ACE_ENST00000490216.2_Missense_Mutation_p.A201V|ACE_ENST00000577647.1_Missense_Mutation_p.A201V|ACE_ENST00000413513.3_Missense_Mutation_p.A201V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	775	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATGTGATGGCCACGTCCCGG	0.542																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(2323-2325)gCc>gTc		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						124	121	122					17																	61566027		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566027C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2324C>T	17.37:g.61566027C>T	ENSP00000290866:p.Ala775Val					ACE_uc010wpj.2_Missense_Mutation_p.A201V|ACE_uc010ddv.2_Missense_Mutation_p.A2V|ACE_uc002jav.2_Missense_Mutation_p.A201V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A85V	p.A775V	NM_000789	NP_000780	P12821	ACE_HUMAN			15	2358	+			775			Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2324C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681136	0.29872	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;1.22	5.93	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93328	3.405	0.80722	D	1	D;P;D;D	0.89917	0.974;0.767;0.976;1.0	P;P;P;D	0.80764	0.839;0.685;0.608;0.994	T	0.81625	-0.0848	10	0.72032	D	0.01	-43.9099	15.6222	0.76816	0.0:0.8635:0.1365:0.0	.	85;201;201;775	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	V	775;775;201;201;85	ENSP00000290866:A775V;ENSP00000397593:A775V;ENSP00000290863:A201V;ENSP00000392247:A201V;ENSP00000387760:A85V	ENSP00000290863:A201V	A	+	2	0	ACE	58919759	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	6.508000	0.73721	1.508000	0.48769	0.561000	0.74099	GCC		0.542	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			T	61566027	C	T	61566027	3	4	182	1	0	0	0	0	1	0	0	0	136	739	26	3	2589	3	ACE	17	61566027	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	20399761	61566027	19629183	53	12912											
DSG3	1830	broad.mit.edu	37	chr18	29054117	29054117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgtatgccagaggcacagCggtggaaggcacttcaggaa	12	6	14	9	2	1	1	1	0	0	1	1	3	1	3	1	5	3	3	1	5	4	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:29054117C>T	ENST00000257189.4	+	15	2218	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	712					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAGGCACAGCGGTGGAAGGC	0.443																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2134-2136)gCg>gTg		Homo sapiens desmoglein 3 (DSG3), mRNA.							98	88	91					18																	29054117		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054117C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2135C>T	18.37:g.29054117C>T	ENSP00000257189:p.Ala712Val					DSG3_uc002kwt.3_5'UTR	p.A712V	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2244	+			712					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2135C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716663	0.03206	.	.	ENSG00000134757	ENST00000257189	T	0.48836	0.8	5.68	3.17	0.36434	.	0.786555	0.10639	N	0.651296	T	0.13970	0.0338	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.13853	T	0.58	.	8.7358	0.34528	0.0:0.1494:0.0:0.8506	.	712	P32926	DSG3_HUMAN	V	712	ENSP00000257189:A712V	ENSP00000257189:A712V	A	+	2	0	DSG3	27308115	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.759000	0.26461	0.434000	0.26340	-0.300000	0.09419	GCG		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29054117	C	T	29054117	3	4	182	1	0	0	0	0	1	0	0	0	4778	768	27	1	2193	1	DSG3	18	29054117	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		29054117	49023131	54	12913											
ATP5A1	498	broad.mit.edu	37	chr18	43667414	43667414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtactgaagtggggcagCatccgaggccgtagccgaca	10	5	15	11	3	0	1	0	1	0	0	1	3	1	1	3	4	3	4	3	4	3	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:43667414C>A	ENST00000398752.6	-	7	965	c.844G>T	c.(844-846)Gct>Tct	p.A282S	ATP5A1_ENST00000593152.2_Missense_Mutation_p.A232S|ATP5A1_ENST00000282050.2_Missense_Mutation_p.A282S|ATP5A1_ENST00000590665.1_Missense_Mutation_p.A260S	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	282					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGTGGGGCAGCATCCGAGGCC	0.423																																						uc002lbr.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(844-846)Gct>Tct		Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							53	55	54					18																	43667414		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43667414C>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.844G>T	18.37:g.43667414C>A	ENSP00000381736:p.Ala282Ser					ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	p.A282S	NM_004046	NP_004037	P25705	ATPA_HUMAN			6	934	-			282					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.844G>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182614	0.78677	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.78364	-1.17;-1.17	4.68	4.68	0.58851	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	N	0.00926	-1.1	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.81959	-0.0694	10	0.42905	T	0.14	-18.3322	17.6211	0.88082	0.0:1.0:0.0:0.0	.	282	P25705	ATPA_HUMAN	S	282;282;232	ENSP00000282050:A282S;ENSP00000381736:A282S	ENSP00000282050:A282S	A	-	1	0	ATP5A1	41921412	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	7.734000	0.84928	2.152000	0.67230	0.563000	0.77884	GCT		0.423	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		A	43667414	C	A	43667414	3	1	182	1	0	0	0	0	1	0	0	0	1147	710	25	5	841	5	ATP5A1	18	43667414	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	14613297	43667414	34409834	55	12914											
C19orf50	79036	broad.mit.edu	37	chr19	18675766	18675766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcagatgagcgaacgcttCctgcaccacacgaggaccct	11	5	10	15	3	0	2	0	1	0	1	1	5	1	3	3	1	4	3	3	1	1	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:18675766C>T	ENST00000602094.1	+	3	1649	c.189C>T	c.(187-189)ttC>ttT	p.F63F	KXD1_ENST00000595073.1_Silent_p.F63F|KXD1_ENST00000601630.1_Silent_p.F63F|KXD1_ENST00000598830.1_Silent_p.F63F|KXD1_ENST00000599319.1_Silent_p.F63F|KXD1_ENST00000599000.1_Silent_p.F63F|KXD1_ENST00000539106.1_Silent_p.F63F|KXD1_ENST00000222307.4_Silent_p.F63F|KXD1_ENST00000540691.1_Silent_p.F63F			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	63					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											GCGAACGCTTCCTGCACCACA	0.582																																						uc021uqq.1																			0											c.(187-189)ttC>ttT		Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.							175	165	169					19																	18675766		2203	4300	6503	SO:0001819	synonymous_variant	79036						protein binding	g.chr19:18675766C>T	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"chromosome 19 open reading frame 50"	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.189C>T	19.37:g.18675766C>T						KXD1_uc021uqr.1_Silent_p.F63F|KXD1_uc002njo.3_Silent_p.F63F|KXD1_uc002njq.3_Silent_p.F63F	p.F63F	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN			3	494	+			63					O76098	Silent	SNP	ENST00000602094.1	37	c.189C>T	CCDS12381.1																																																																																				0.582	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		T	18675766	C	T	18675766	2	4	182	1	0	0	0	0	0	0	0	1	1932	854	30	3		3	C19orf50	19	18675766	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		18675766	40453217	56	12915											
ZNF429	353088	broad.mit.edu	37	chr19	21712573	21712573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttagagaactacagaaaCttggtcttcctgggtgagaa	13	11	11	6	0	1	3	0	1	1	3	2	5	2	3	1	2	3	1	1	2	5	4	rs183631992	byFrequency	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:21712573C>A	ENST00000358491.4	+	2	325	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF429_ENST00000597078.1_Missense_Mutation_p.N39K|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTACAGAAACTTGGTCTTCC	0.378																																						uc002nqd.1																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(115-117)aaC>aaA		Homo sapiens zinc finger protein 429 (ZNF429), mRNA.							105	117	113					19																	21712573		2201	4299	6500	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21712573C>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.117C>A	19.37:g.21712573C>A	ENSP00000351280:p.Asn39Lys					ZNF429_uc010ecu.2_Missense_Mutation_p.N39K	p.N39K	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			1	254	+			39			KRAB.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.117C>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.202	1.028677	0.19512	.	.	ENSG00000197013	ENST00000358491	T	0.02579	4.24	0.926	-0.301	0.12800	Krueppel-associated box (4);	.	.	.	.	T	0.19846	0.0477	H	0.99074	4.42	0.09310	N	1	D	0.63046	0.992	P	0.60236	0.871	T	0.06427	-1.0827	9	0.87932	D	0	.	4.4964	0.11839	0.0:0.5525:0.0:0.4475	.	39	Q86V71	ZN429_HUMAN	K	39	ENSP00000351280:N39K	ENSP00000351280:N39K	N	+	3	2	ZNF429	21504413	0.000000	0.05858	0.560000	0.28344	0.563000	0.35712	-2.571000	0.00913	0.308000	0.22923	0.313000	0.20887	AAC		0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		A	21712573	C	A	21712573	3	1	182	1	0	0	0	0	1	0	0	0	17899	564	20	5	123	5	ZNF429	19	21712573	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	3036807	21712573	37416410	57	12916											
TMEM149	79713	broad.mit.edu	37	chr19	36230669	36230669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccctgtctccagggcGcctggggaggacagatgcga	6	7	16	12	2	1	1	0	0	1	1	3	4	2	3	4	4	1	0	4	4	0	0	rs377303186		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:36230669G>A	ENST00000592537.1	-	4	763	c.663C>T	c.(661-663)ggC>ggT	p.G221G	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Silent_p.G221G|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000588992.1_Splice_Site_p.G53G			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCTCCAGGGCGCCTGGGGAGG	0.642																																						uc002obd.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						c.(661-663)ggC>ggT		Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	69	79	76		663	-6.1	0	19		76	0,8596		0,0,4298	no	coding-synonymous	IGFLR1	NM_024660.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		221/356	36230669	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230669G>A	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.663C>T	19.37:g.36230669G>A						IGFLR1_uc002obb.3_Intron|IGFLR1_uc002obc.3_Silent_p.G221G|IGFLR1_uc010xsy.2_Non-coding_Transcript|IGFLR1_uc010eej.3_Silent_p.G301G	p.G221G	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN			3	930	-			221					Q8N5X0	Silent	SNP	ENST00000592537.1	37	c.663C>T	CCDS12472.1																																																																																				0.642	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		A	36230669	G	A	36230669	2	1	182	1	0	0	0	0	0	0	0	1	16059	1074	38	1		1	TMEM149	19	36230669	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	14518096	36230669	22898314	58	12917											
CPT1C	126129	broad.mit.edu	37	chr19	50208532	50208532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagatcttcaacaccaCgcggattccaggggtccaaa	13	6	10	12	3	2	2	1	0	1	2	4	4	4	3	3	3	1	0	3	3	3	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:50208532C>T	ENST00000392518.4	+	10	1313	c.941C>T	c.(940-942)aCg>aTg	p.T314M	CPT1C_ENST00000598293.1_Missense_Mutation_p.T314M|CPT1C_ENST00000354199.5_Missense_Mutation_p.T314M|CPT1C_ENST00000323446.5_Missense_Mutation_p.T314M|CPT1C_ENST00000405931.2_Missense_Mutation_p.T303M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	314					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.T314K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCAACACCACGCGGATTCCA	0.552																																						uc010eng.3																			1	Substitution - Missense(1)	p.T314K(2)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(940-942)aCg>aTg		Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.							158	142	148					19																	50208532		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208532C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.941C>T	19.37:g.50208532C>T	ENSP00000376303:p.Thr314Met					CPT1C_uc002ppl.4_Missense_Mutation_p.T280M|CPT1C_uc002ppi.3_Missense_Mutation_p.T231M|CPT1C_uc002ppk.3_Missense_Mutation_p.T303M|CPT1C_uc010enh.3_Missense_Mutation_p.T314M|CPT1C_uc002ppj.3_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	p.T314M	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	9	1257	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	314					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.941C>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537529	0.85917	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.34	4.34	0.51931	.	0.000000	0.52532	D	0.000076	D	0.94699	0.8290	M	0.85859	2.78	0.50039	D	0.999845	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.993;0.999;0.969;0.982	D	0.95568	0.8635	10	0.87932	D	0	-21.7573	15.7686	0.78146	0.0:1.0:0.0:0.0	.	185;314;303;314	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	M	314;314;303;314;185	ENSP00000376303:T314M;ENSP00000346138:T314M;ENSP00000384465:T303M;ENSP00000319343:T314M	ENSP00000295404:T185M	T	+	2	0	CPT1C	54900344	0.998000	0.40836	0.916000	0.36221	0.992000	0.81027	4.010000	0.57117	2.260000	0.74910	0.561000	0.74099	ACG		0.552	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		T	50208532	C	T	50208532	3	4	182	1	0	0	0	0	1	0	0	0	3833	536	19	1	971	1	CPT1C	19	50208532	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	13977863	50208532	8920451	59	12918											
XKR7	343702	broad.mit.edu	37	chr20	30584473	30584473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcggcctggccttcgCgctcttcgccagcgtctaca	3	8	11	19	7	2	0	0	0	2	0	4	0	2	0	4	2	2	1	4	2	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:30584473C>T	ENST00000562532.2	+	3	1127	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	318						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTTCGCGCTCTTCGCC	0.637																																						uc002wxe.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(952-954)gCg>gTg		Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.							69	67	68					20																	30584473		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584473C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.953C>T	20.37:g.30584473C>T	ENSP00000477059:p.Ala318Val						p.A318V	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		2	1127	+			318					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.953C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	c	28.2	4.901380	0.92035	.	.	ENSG00000101321	ENST00000217299	T	0.65178	-0.14	5.19	5.19	0.71726	.	0.165679	0.53938	D	0.000058	T	0.74543	0.3730	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.74080	-0.3780	10	0.44086	T	0.13	.	17.7051	0.88306	0.0:1.0:0.0:0.0	.	318	Q5GH72	XKR7_HUMAN	V	318	ENSP00000217299:A318V	ENSP00000217299:A318V	A	+	2	0	XKR7	30048134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.427000	0.82271	0.556000	0.70494	GCG		0.637	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		T	30584473	C	T	30584473	3	4	182	1	0	0	0	0	1	0	0	0	17433	768	27	1	963	1	XKR7	20	30584473	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		30584473	32441047	60	12919											
JPH2	57158	broad.mit.edu	37	chr20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcctcgcggtggccgtCgggcagcgtggtgcagccat	3	7	16	15	5	0	0	0	0	0	0	3	0	1	0	4	4	3	2	4	4	0	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662																																						uc002xli.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(997-999)Gac>Aac		Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.							43	37	39					20																	42788430		2203	4299	6502	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788430C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.997G>A	20.37:g.42788430C>T	ENSP00000362071:p.Asp333Asn						p.D333N	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1870	-		Myeloproliferative disorder(115;0.0122)	333					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.997G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632685	0.87660	.	.	ENSG00000149596	ENST00000372980	T	0.58797	0.31	3.12	2.16	0.27623	.	0.115168	0.56097	N	0.000022	T	0.49440	0.1557	L	0.46614	1.455	0.80722	D	1	D	0.55172	0.97	B	0.44315	0.446	T	0.44651	-0.9314	10	0.42905	T	0.14	.	9.776	0.40618	0.0:0.8956:0.0:0.1044	.	333	Q9BR39	JPH2_HUMAN	N	333	ENSP00000362071:D333N	ENSP00000362071:D333N	D	-	1	0	JPH2	42221844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.811000	0.47986	0.492000	0.27815	0.306000	0.20318	GAC		0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			T	42788430	C	T	42788430	3	4	182	1	0	0	0	0	1	0	0	0	7961	884	31	2	1109	2	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	12203957	42788430	20237090	61	12920											
PCBP3	54039	broad.mit.edu	37	chr21	47349908	47349908	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaaccccgctttcccCggtacgtacccagccctttt	7	9	6	19	3	0	1	0	0	0	1	1	1	1	1	7	1	4	3	7	1	3	5	rs371552951		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr21:47349908C>A	ENST00000400314.1	+	12	1133	c.795C>A	c.(793-795)ccC>ccA	p.P265P	PCBP3_ENST00000400308.1_Splice_Site_p.P239P|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Splice_Site_p.P264P|PCBP3_ENST00000400304.1_Splice_Site_p.P255P|PCBP3_ENST00000400310.1_Splice_Site_p.P265P|PCBP3_ENST00000449640.1_Splice_Site_p.P265P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	265					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567																																						uc010gqb.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.e12+1		Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.							123	136	132					21																	47349908		2012	4170	6182	SO:0001630	splice_region_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47349908C>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.796+1C>A	21.37:g.47349908C>A						PCBP3_uc002zhp.2_Splice_Site_p.G266_splice|PCBP3_uc002zhq.2_Splice_Site_p.G266_splice|PCBP3_uc002zhs.2_Splice_Site_p.G240_splice|PCBP3_uc002zht.2_Splice_Site_p.G256_splice	p.G266_splice	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	12	1059	+	all_hematologic(128;0.24)		266					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.796_splice	CCDS42974.2																																																																																				0.567	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		Silent	A	47349908	C	A	47349908	5	1	182	1	0	0	0	0	0	0	1	0	11502	666	23	5	833	5	PCBP3	21	47349908	Splice_Site	SNP	C	TCGA-27-1830-01A-01W-0643-08		47349908	779987	62	12921											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913028	77913028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtaaggggctttggAtatccagtaagagctggaac	11	9	13	8	0	0	1	0	0	0	1	2	3	2	3	2	4	2	5	2	4	4	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chrX:77913028A>G	ENST00000321110.1	-	2	1185	c.890T>C	c.(889-891)aTc>aCc	p.I297T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	297							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTTTGGATATCCAGTAA	0.483																																						uc022bzi.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(889-891)aTc>aCc		Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.							40	37	38					X																	77913028		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913028A>G	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.890T>C	X.37:g.77913028A>G	ENSP00000316794:p.Ile297Thr					ZCCHC5_uc004edc.1_Missense_Mutation_p.I297T	p.I297T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			0	890	-			297					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.890T>C	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	A	0.087	-1.172934	0.01646	.	.	ENSG00000179300	ENST00000321110	T	0.16324	2.35	3.25	0.758	0.18432	.	0.638665	0.12587	U	0.455864	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B	0.25235	0.121	B	0.16722	0.016	T	0.39440	-0.9614	10	0.14252	T	0.57	.	2.9762	0.05939	0.5787:0.2703:0.151:0.0	.	297	Q8N8U3	ZCHC5_HUMAN	T	297	ENSP00000316794:I297T	ENSP00000316794:I297T	I	-	2	0	ZCCHC5	77799684	0.438000	0.25602	0.045000	0.18777	0.800000	0.45204	0.044000	0.13992	0.047000	0.15862	0.412000	0.27726	ATC		0.483	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		G	77913028	A	G	77913028	3	3	182	1	0	0	0	0	1	0	0	0	17588	333	12	4	541	4	ZCCHC5	23	77913028	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08		77913028	77357532	63	12922											
AGMAT	79814	broad.mit.edu	37	chr1	15904246	15904246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataggcaggatccagagcGtcaatatcaaagctgatata	15	8	10	8	1	2	2	2	1	0	1	3	3	3	3	1	2	2	3	1	2	6	4	rs148750290	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:15904246G>A	ENST00000375826.3	-	5	976	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	278					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGAGCGTCAATATCAA	0.532													G|||	36	0.0071885	0	0	5008	,	,		19844	0.0347		0	False		,,,				2504	0.001				NSCLC(126;1678 1780 25805 43508 49531)	uc001awv.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12						c.(832-834)gaC>gaT		Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	123	109	114		834	-8.4	0.2	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	AGMAT	NM_024758.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		278/353	15904246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15904246G>A	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.834C>T	1.37:g.15904246G>A						DNAJC16_uc001awu.3_Intron	p.D278D	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	4	977	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	278					Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	c.834C>T	CCDS160.1																																																																																				0.532	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15904246	G	A	15904246	2	1	183	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15904246	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08		15904246	233346375	1	12923											
EPHA8	2046	broad.mit.edu	37	chr1	22924647	22924647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctactgcccgcccaggccGcctggcaatgattgtgactg	6	8	11	16	2	0	2	0	2	0	0	0	2	0	2	5	2	2	1	5	2	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:22924647G>A	ENST00000166244.3	+	12	2192	c.2120G>A	c.(2119-2121)cGc>cAc	p.R707H		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCAGGCCGCCTGGCAATG	0.622																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2119-2121)cGc>cAc		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							115	110	112					1																	22924647		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924647G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2120G>A	1.37:g.22924647G>A	ENSP00000166244:p.Arg707His						p.R707H	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2245	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	707			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2120G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.679954	0.47886	.	.	ENSG00000070886	ENST00000166244	T	0.62364	0.03	4.59	1.43	0.22495	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.276049	0.29624	N	0.011621	T	0.40570	0.1122	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	B	0.42319	0.383	T	0.26815	-1.0092	10	0.72032	D	0.01	.	3.9469	0.09352	0.185:0.0:0.4256:0.3894	.	707	P29322	EPHA8_HUMAN	H	707	ENSP00000166244:R707H	ENSP00000166244:R707H	R	+	2	0	EPHA8	22797234	1.000000	0.71417	0.945000	0.38365	0.523000	0.34469	2.071000	0.41500	0.098000	0.17522	-0.355000	0.07637	CGC		0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22924647	G	A	22924647	3	1	183	1	0	0	0	0	1	0	0	0	5173	1087	38	1	2339	1	EPHA8	1	22924647	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7020401	22924647	226325974	2	12924											
HTR1D	3352	broad.mit.edu	37	chr1	23520071	23520071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatccggccatataggatGatgagcaacaccgagggaat	14	7	12	8	2	0	3	0	2	0	1	1	6	1	5	3	3	2	1	3	3	5	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:23520071G>A	ENST00000374619.1	-	1	1151	c.642C>T	c.(640-642)atC>atT	p.I214I	HTR1D_ENST00000314113.3_Silent_p.I214I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577																																						uc001bgn.3																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(640-642)atC>atT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						62	66	65					1																	23520071		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520071G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.642C>T	1.37:g.23520071G>A							p.I214I	NM_000864	NP_000855	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	0	1152	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	214						Silent	SNP	ENST00000374619.1	37	c.642C>T	CCDS231.1																																																																																				0.577	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		A	23520071	G	A	23520071	2	1	183	1	0	0	0	0	0	0	0	1	7438	1280	45	3		3	HTR1D	1	23520071	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	595424	23520071	225730550	3	12925											
KLHDC9	126823	broad.mit.edu	37	chr1	161068632	161068632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgggacgggtctcgcCgcttggccacagtgaccgca	5	6	16	14	5	1	1	0	1	1	0	2	2	1	2	3	4	0	3	3	4	0	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161068632C>T	ENST00000368011.4	+	1	449	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	KLHDC9_ENST00000490724.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Missense_Mutation_p.R103C	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	103										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGGTCTCGCCGCTTGGCCAC	0.726																																						uc001fxr.3																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(307-309)Cgc>Tgc		Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.							9	10	10					1																	161068632		2176	4262	6438	SO:0001583	missense	126823							g.chr1:161068632C>T	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.307C>T	1.37:g.161068632C>T	ENSP00000356990:p.Arg103Cys					KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Missense_Mutation_p.R103C|KLHDC9_uc001fxs.3_Missense_Mutation_p.R103C	p.R103C	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		0	452	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		103					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.307C>T	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678870	0.68042	.	.	ENSG00000162755	ENST00000368011;ENST00000392192	T;T	0.48201	0.82;0.82	4.12	4.12	0.48240	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.48767	D	0.000172	T	0.46249	0.1383	L	0.36672	1.1	0.47341	D	0.999395	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.49744	-0.8907	10	0.66056	D	0.02	-25.1172	9.4931	0.38971	0.2108:0.7892:0.0:0.0	.	103;103	Q8NEP7-2;Q8NEP7	.;KLDC9_HUMAN	C	103	ENSP00000356990:R103C;ENSP00000376030:R103C	ENSP00000356990:R103C	R	+	1	0	KLHDC9	159335256	0.715000	0.27946	0.420000	0.26596	0.943000	0.58893	1.751000	0.38339	2.271000	0.75665	0.467000	0.42956	CGC		0.726	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		T	161068632	C	T	161068632	3	4	183	1	0	0	0	0	1	0	0	0	8364	652	23	2	309	2	KLHDC9	1	161068632	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	137548561	161068632	88181989	4	12926											
ADAMTS4	9507	broad.mit.edu	37	chr1	161165991	161165991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagtgaaggctgactGgagcccatcatcctccacaa	12	6	10	13	0	1	2	1	2	0	0	3	3	3	3	3	2	3	3	3	2	2	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161165991G>T	ENST00000367996.5	-	3	1488	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	354	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AAGGCTGACTGGAGCCCATCA	0.577																																						uc001fyt.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1060-1062)Cag>Aag		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.							108	103	104					1																	161165991		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161165991G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1060C>A	1.37:g.161165991G>T	ENSP00000356975:p.Gln354Lys					ADAMTS4_uc001fyu.2_3'UTR	p.Q354K	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1488	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		354			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1060C>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389123	0.82902	.	.	ENSG00000158859	ENST00000367996	D	0.86432	-2.12	5.12	5.12	0.69794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000011	D	0.87204	0.6119	L	0.59436	1.845	0.80722	D	1	P	0.43633	0.813	P	0.50109	0.631	D	0.87496	0.2430	10	0.51188	T	0.08	.	17.4652	0.87630	0.0:0.0:1.0:0.0	.	354	O75173	ATS4_HUMAN	K	354	ENSP00000356975:Q354K	ENSP00000356975:Q354K	Q	-	1	0	ADAMTS4	159432615	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.656000	0.83736	2.656000	0.90262	0.491000	0.48974	CAG		0.577	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		T	161165991	G	T	161165991	3	4	183	1	0	0	0	0	1	0	0	0	268	1357	47	5	1481	5	ADAMTS4	1	161165991	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	97359	161165991	88084630	5	12927											
SLC9A11	284525	broad.mit.edu	37	chr1	173552735	173552735	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaatgattctcctctaaTgagatcaatgtatattttag	13	16	6	6	0	4	2	2	2	2	1	5	4	4	2	1	0	0	1	1	0	6	6			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:173552735T>A	ENST00000367714.3	-	6	972	c.550A>T	c.(550-552)Att>Ttt	p.I184F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I82F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	184					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTCCTCTAATGAGATCAATG	0.328																																						uc001giz.2																			0											c.(550-552)Att>Ttt		Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.							51	56	54					1																	173552735		2201	4293	6494	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552735T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.550A>T	1.37:g.173552735T>A	ENSP00000356687:p.Ile184Phe					SLC9C2_uc010pmq.1_Non-coding_Transcript	p.I184F	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			5	973	-			184					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.550A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855043	0.32791	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13307	2.6;2.6	5.37	4.22	0.49857	Cation/H+ exchanger (1);	0.229512	0.29668	N	0.011505	T	0.07007	0.0178	L	0.56769	1.78	0.30532	N	0.767329	B	0.34161	0.439	B	0.37422	0.249	T	0.12192	-1.0557	10	0.59425	D	0.04	-25.4382	8.4065	0.32619	0.1743:0.0:0.0:0.8257	.	184	Q5TAH2	S9A11_HUMAN	F	184;82	ENSP00000356687:I184F;ENSP00000445437:I82F	ENSP00000356687:I184F	I	-	1	0	SLC9A11	171819358	0.980000	0.34600	0.966000	0.40874	0.303000	0.27691	1.089000	0.30890	0.843000	0.35070	0.528000	0.53228	ATT		0.328	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		A	173552735	T	A	173552735	3	1	183	1	0	0	0	0	1	0	0	0	14711	1464	51	5	2916	5	SLC9A11	1	173552735	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08	12386744	173552735	75697886	6	12928											
KDM5B	10765	broad.mit.edu	37	chr1	202718129	202718129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatcataatggccatgtCtttctgaacagttgaagcca	12	12	7	10	0	4	2	2	2	2	0	4	2	4	2	2	1	2	1	2	1	4	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:202718129C>A	ENST00000367265.3	-	14	3124	c.1960G>T	c.(1960-1962)Gac>Tac	p.D654Y	KDM5B_ENST00000367264.2_Missense_Mutation_p.D690Y	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	654					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGGCCATGTCTTTCTGAACA	0.403																																						uc009xag.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2068-2070)Gac>Tac		Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.							121	114	117					1																	202718129		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202718129C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1960G>T	1.37:g.202718129C>A	ENSP00000356234:p.Asp654Tyr					KDM5B_uc001gyf.3_Missense_Mutation_p.D654Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	p.D690Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			14	2184	-			654					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2068G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018175	0.93404	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.86865	-2.06;-1.87;-2.18	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.957	D	0.93670	0.6989	10	0.87932	D	0	-27.6402	20.089	0.97809	0.0:1.0:0.0:0.0	.	690;654	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Y	654;496;690;496;23	ENSP00000356234:D654Y;ENSP00000356233:D690Y;ENSP00000235790:D496Y	ENSP00000235790:D496Y	D	-	1	0	KDM5B	200984752	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.760000	0.85248	2.752000	0.94435	0.557000	0.71058	GAC		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		A	202718129	C	A	202718129	3	1	183	1	0	0	0	0	1	0	0	0	8134	913	32	5	2730	5	KDM5B	1	202718129	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	29165394	202718129	46532492	7	12929											
USH2A	7399	broad.mit.edu	37	chr1	215972257	215972257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccttacctggaaggCgattgtacaccactccttct	7	11	9	14	1	1	0	0	0	1	0	2	2	2	1	5	3	2	1	5	3	3	4	rs140746096		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:215972257C>T	ENST00000307340.3	-	50	10336	c.9950G>A	c.(9949-9951)cGc>cAc	p.R3317H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3317H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3317					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGGAAGGCGATTGTACAC	0.473										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9949-9951)cGc>cAc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.		C	HIS/ARG	0,4406		0,0,2203	145	124	131		9950	-0.8	0	1	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3317/5203	215972257	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215972257C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9950G>A	1.37:g.215972257C>T	ENSP00000305941:p.Arg3317His	HNSCC(13;0.011)					p.R3317H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	10337	-			3317					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9950G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891248	0.02491	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13196	2.62;2.61	5.8	-0.829	0.10796	Fibronectin, type III (2);	1.988910	0.02519	N	0.092366	T	0.12008	0.0292	L	0.41236	1.265	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.32877	-0.9890	10	0.14252	T	0.57	.	7.9877	0.30222	0.0:0.2642:0.364:0.3718	.	3317	O75445	USH2A_HUMAN	H	3317	ENSP00000305941:R3317H;ENSP00000355910:R3317H	ENSP00000305941:R3317H	R	-	2	0	USH2A	214038880	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.923000	0.04000	-0.438000	0.07232	-0.143000	0.13931	CGC		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215972257	C	T	215972257	3	4	183	1	0	0	0	0	1	0	0	0	17033	768	27	1	5750	1	USH2A	1	215972257	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	13254128	215972257	33278364	8	12930											
C1orf65	164127	broad.mit.edu	37	chr1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaggaaggagcggcaaCgcgagctgagggagaaggcc	11	2	19	9	3	0	3	0	2	0	1	0	7	0	5	2	5	3	2	2	5	3	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:223568231C>T	ENST00000366875.3	+	1	1517	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		472										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607																																						uc001hoa.2																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1414-1416)Cgc>Tgc		Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.							53	58	57					1																	223568231		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223568231C>T																												ENST00000366875.3:c.1414C>T	1.37:g.223568231C>T	ENSP00000355840:p.Arg472Cys						p.R472C	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	0	1517	+			472					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1414C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422779	0.43020	.	.	ENSG00000178395	ENST00000366875	T	0.28069	1.63	5.56	0.716	0.18191	.	.	.	.	.	T	0.49575	0.1565	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.65773	0.938	T	0.47873	-0.9083	9	0.87932	D	0	.	13.9383	0.64039	0.5939:0.4061:0.0:0.0	.	472	Q8N715	CA065_HUMAN	C	472	ENSP00000355840:R472C	ENSP00000355840:R472C	R	+	1	0	C1orf65	221634854	0.022000	0.18835	0.000000	0.03702	0.503000	0.33858	0.416000	0.21198	0.227000	0.20999	0.655000	0.94253	CGC		0.607	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223568231	C	T	223568231	3	4	183	1	0	0	0	0	1	0	0	0	2055	536	19	1	1416	1	C1orf65	1	223568231	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	7595974	223568231	25682390	9	12931											
RYR2	6262	broad.mit.edu	37	chr1	237863751	237863751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catattggccagcatcagttCggagaagacctaatatgtat	13	11	9	8	1	1	2	1	0	0	2	2	3	1	2	2	2	1	3	2	2	5	6			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:237863751C>T	ENST00000366574.2	+	65	9668	c.9351C>T	c.(9349-9351)ttC>ttT	p.F3117F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.F3115F|RYR2_ENST00000542537.1_Silent_p.F3101F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3117					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCATCAGTTCGGAGAAGACC	0.373																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9349-9351)ttC>ttT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							40	38	38					1																	237863751		1853	4095	5948	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237863751C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9351C>T	1.37:g.237863751C>T						RYR2_uc010pxz.1_Silent_p.F72F	p.F3117F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		64	9471	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3117					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9351C>T	CCDS55691.1																																																																																				0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237863751	C	T	237863751	2	4	183	1	0	0	0	0	0	0	0	1	13769	883	31	2		2	RYR2	1	237863751	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08	14295520	237863751	11386870	10	12932											
NLRP3	114548	broad.mit.edu	37	chr1	247587925	247587925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatgaggcccaagccaggGcagccttcagtctgattcag	9	8	12	12	0	3	3	2	3	1	0	3	3	3	3	3	2	2	1	3	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:247587925G>T	ENST00000336119.3	+	3	1926	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	NLRP3_ENST00000391828.3_Missense_Mutation_p.A394S|NLRP3_ENST00000391827.2_Missense_Mutation_p.A394S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A394S|NLRP3_ENST00000348069.2_Missense_Mutation_p.A394S|NLRP3_ENST00000366497.2_Missense_Mutation_p.A394S	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	394	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCAAGCCAGGGCAGCCTTCAG	0.537																																						uc001icr.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1180-1182)Gca>Tca		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							83	67	73					1																	247587925		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587925G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1180G>T	1.37:g.247587925G>T	ENSP00000337383:p.Ala394Ser					NLRP3_uc001ics.3_Missense_Mutation_p.A394S|NLRP3_uc001icu.3_Missense_Mutation_p.A394S|NLRP3_uc001icw.3_Missense_Mutation_p.A394S|NLRP3_uc001icv.3_Missense_Mutation_p.A394S|NLRP3_uc010pyw.2_Missense_Mutation_p.A392S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S	p.A394S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1318	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	394			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1180G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	6.559	0.471354	0.12461	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73897	-0.7;-0.72;-0.7;-0.79;-0.72;-0.75	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.265595	0.27636	N	0.018500	T	0.58090	0.2098	N	0.12961	0.28	0.09310	N	1	B;B;B;B;B	0.24963	0.02;0.041;0.115;0.012;0.015	B;B;B;B;B	0.27608	0.022;0.081;0.062;0.026;0.011	T	0.52931	-0.8509	10	0.41790	T	0.15	.	12.2773	0.54744	0.0:0.0:1.0:0.0	.	394;394;394;394;394	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	S	394	ENSP00000375704:A394S;ENSP00000355453:A394S;ENSP00000337383:A394S;ENSP00000294752:A394S;ENSP00000355452:A394S;ENSP00000375703:A394S	ENSP00000337383:A394S	A	+	1	0	NLRP3	245654548	0.000000	0.05858	0.061000	0.19648	0.075000	0.17131	0.592000	0.23984	2.612000	0.88384	0.655000	0.94253	GCA		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247587925	G	T	247587925	3	4	183	1	0	0	0	0	1	0	0	0	10478	1203	42	5	1190	5	NLRP3	1	247587925	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	9724174	247587925	1662696	11	12933											
KCNS3	3790	broad.mit.edu	37	chr2	18112318	18112318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgccctggacaagacgagGaacttgtcaacctgaatgtg	12	8	11	10	2	1	2	1	1	0	1	2	5	1	4	2	2	2	0	2	2	4	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:18112318G>A	ENST00000403915.1	+	3	494	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KCNS3_ENST00000304101.4_Missense_Mutation_p.E15K|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	15					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAAGACGAGGAACTTGTCAA	0.537																																						uc021veh.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(43-45)Gaa>Aaa		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.							97	94	95					2																	18112318		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112318G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.43G>A	2.37:g.18112318G>A	ENSP00000385968:p.Glu15Lys					KCNS3_uc002rcv.3_Missense_Mutation_p.E15K|KCNS3_uc002rcw.3_Missense_Mutation_p.E15K	p.E15K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			0	43	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		15					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.43G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983486	0.53827	.	.	ENSG00000170745	ENST00000403915;ENST00000304101;ENST00000419802	T;T;T	0.78003	0.87;0.87;-1.14	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);	0.207711	0.49916	D	0.000131	T	0.69940	0.3167	L	0.41079	1.255	0.49915	D	0.999839	P	0.39480	0.675	B	0.31614	0.133	T	0.70930	-0.4738	10	0.39692	T	0.17	.	19.7787	0.96409	0.0:0.0:1.0:0.0	.	15	Q9BQ31	KCNS3_HUMAN	K	15	ENSP00000385968:E15K;ENSP00000305824:E15K;ENSP00000400098:E15K	ENSP00000305824:E15K	E	+	1	0	KCNS3	17975799	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.675000	0.84002	2.671000	0.90904	0.558000	0.71614	GAA		0.537	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		A	18112318	G	A	18112318	3	1	183	1	0	0	0	0	1	0	0	0	8090	1175	41	3	45	3	KCNS3	2	18112318	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		18112318	225087055	12	12934											
APOB	338	broad.mit.edu	37	chr2	21227512	21227512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctttagtcttagaggCtaacgtaccatcttcgattt	8	17	7	9	2	2	1	0	0	2	1	4	2	3	1	2	1	2	3	2	1	4	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:21227512C>T	ENST00000233242.1	-	27	11951	c.11824G>A	c.(11824-11826)Gcc>Acc	p.A3942T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3942					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTAGAGGCTAACGTACCA	0.358																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11824-11826)Gcc>Acc		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						169	159	163					2																	21227512		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227512C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11824G>A	2.37:g.21227512C>T	ENSP00000233242:p.Ala3942Thr						p.A3942T	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11952	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3942					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11824G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751948	0.31046	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.17854	2.25	5.99	1.87	0.25490	.	0.603999	0.15325	N	0.268335	T	0.03827	0.0108	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41124	-0.9526	10	0.09338	T	0.73	.	3.1533	0.06495	0.1856:0.4703:0.0:0.3441	.	3942	P04114	APOB_HUMAN	T	3942	ENSP00000233242:A3942T	ENSP00000233242:A3942T	A	-	1	0	APOB	21081017	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.090000	0.11163	0.292000	0.22492	-0.137000	0.14449	GCC		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21227512	C	T	21227512	3	4	183	1	0	0	0	0	1	0	0	0	785	797	28	3	1879	3	APOB	2	21227512	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	3115194	21227512	221971861	13	12935											
GPD2	2820	broad.mit.edu	37	chr2	157407115	157407115	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccactttctttcacaggGcaggaatttgacgtgagagc	10	11	11	9	1	2	2	1	2	1	1	2	4	2	3	1	2	2	1	1	2	1	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:157407115G>A	ENST00000310454.6	+	8	1200	c.828G>A	c.(826-828)ggG>ggA	p.G276G	GPD2_ENST00000438166.2_Splice_Site_p.G276G|GPD2_ENST00000409125.4_Splice_Site_p.G49G|GPD2_ENST00000540309.1_Splice_Site_p.G276G|GPD2_ENST00000409674.1_Splice_Site_p.G276G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	276					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCACAGGGCAGGAATTTG	0.438																																						uc002tzf.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.e8-1		Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							126	107	113					2																	157407115		2203	4300	6503	SO:0001630	splice_region_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157407115G>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.827-1G>A	2.37:g.157407115G>A						GPD2_uc010zch.2_Splice_Site_p.G49_splice|GPD2_uc002tzd.4_Splice_Site_p.G276_splice|GPD2_uc002tze.1_Splice_Site	p.G276_splice	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			8	1187	+			276					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	c.827_splice	CCDS2202.1																																																																																				0.438	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		Silent	A	157407115	G	A	157407115	5	1	183	1	0	0	0	0	0	0	1	0	6606	1217	42	3	854	3	GPD2	2	157407115	Splice_Site	SNP	G	TCGA-27-1831-01A-01D-1494-08	136179603	157407115	85792258	14	12936											
KIAA1486	57624	broad.mit.edu	37	chr2	226447519	226447519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttacgacgctgtgcattcGggcagcctctcaaggagctc	7	9	11	14	3	1	0	1	0	1	0	4	2	1	1	2	2	4	4	2	2	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:226447519G>A	ENST00000272907.6	+	4	1799	c.1386G>A	c.(1384-1386)tcG>tcA	p.S462S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	462	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTGTGCATTCGGGCAGCCTCT	0.622																																						uc002voe.2																			0											c.(1384-1386)tcG>tcA		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							45	49	48					2																	226447519		2031	4189	6220	SO:0001819	synonymous_variant	57624							g.chr2:226447519G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1386G>A	2.37:g.226447519G>A						NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.S232S	p.S462S	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1561	+			462			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1386G>A	CCDS46529.1																																																																																				0.622	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226447519	G	A	226447519	2	1	183	1	0	0	0	0	0	0	0	1	8237	1103	39	2		2	KIAA1486	2	226447519	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	69040404	226447519	16751854	15	12937											
UGT1A7	54577	broad.mit.edu	37	chr2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctccaaacccctgtcacgGcatatgatctctacagccac	10	10	5	16	1	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	3	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	241					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGTCACGGCATATGATCT	0.413																																						uc002vut.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(721-723)Gca>Aca		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						202	212	208					2																	234591304		2203	4300	6503	SO:0001583	missense	54577				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234591304G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A241T	p.A241T	NM_019077	NP_061950	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	721	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	244					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.721G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		A	234591304	G	A	234591304	3	1	183	1	0	0	0	0	1	0	0	0	16947	1203	42	3	723	3	UGT1A7	2	234591304	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	8143785	234591304	8608069	16	12938											
COL6A3	1293	broad.mit.edu	37	chr2	238275630	238275630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggcggctgcctgcctCaggcacaaagtggtttaccc	7	8	12	14	1	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:238275630C>A	ENST00000295550.4	-	11	5652	c.5200G>T	c.(5200-5202)Gag>Tag	p.E1734*	COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E1533*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.E1528*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.E1528*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.E1127*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E1534*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1734	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5200-5202)Gag>Tag		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							61	57	59					2																	238275630		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275630C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5200G>T	2.37:g.238275630C>A	ENSP00000295550:p.Glu1734*					COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	p.E1734*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5485	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1734			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.5200G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	41	9.013003	0.99037	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.56	5.56	0.83823	.	0.222293	0.31177	N	0.008102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	.	.	.	X	1734;1533;1528;1127;1528;1534	.	ENSP00000295550:E1734X	E	-	1	0	COL6A3	237940369	0.093000	0.21703	0.940000	0.37924	0.085000	0.17905	2.013000	0.40942	2.604000	0.88044	0.650000	0.86243	GAG		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238275630	C	A	238275630	4	1	183	1	0	0	0	0	0	1	0	0	3701	835	29	5	4469	5	COL6A3	2	238275630	Nonsense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	3684326	238275630	4923743	17	12939											
CDCP1	64866	broad.mit.edu	37	chr3	45132920	45132920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacctggtctctgggcaCgctgatgttccaggacacag	7	8	13	13	1	1	1	0	1	1	0	3	2	2	2	3	4	0	3	3	4	0	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:45132920C>T	ENST00000296129.1	-	7	1872	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	580						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTCTGGGCACGCTGATGTTC	0.607																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1738-1740)Gtg>Atg		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							24	24	24					3																	45132920		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132920C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1738G>A	3.37:g.45132920C>T	ENSP00000296129:p.Val580Met						p.V580M	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1873	-			580					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1738G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689321	0.68271	.	.	ENSG00000163814	ENST00000296129	T	0.34275	1.37	5.84	5.84	0.93424	.	0.164261	0.53938	D	0.000053	T	0.46776	0.1410	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	P	0.54460	0.753	T	0.22138	-1.0225	10	0.30078	T	0.28	.	13.3638	0.60671	0.0:0.9284:0.0:0.0716	.	580	Q9H5V8	CDCP1_HUMAN	M	580	ENSP00000296129:V580M	ENSP00000296129:V580M	V	-	1	0	CDCP1	45107924	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	3.791000	0.55469	2.767000	0.95098	0.555000	0.69702	GTG		0.607	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		T	45132920	C	T	45132920	3	4	183	1	0	0	0	0	1	0	0	0	3093	536	19	1	784	1	CDCP1	3	45132920	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		45132920	152889510	18	12940											
GSK3B	2932	broad.mit.edu	37	chr3	119812236	119812236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgaaggctgctgcaccgGcttgcagctctccgcaaagg	8	7	13	13	2	1	1	0	1	1	0	2	1	1	1	2	3	5	8	2	3	2	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:119812236G>C	ENST00000264235.8	-	1	1028	c.46C>G	c.(46-48)Ccg>Gcg	p.P16A	GSK3B_ENST00000316626.5_Missense_Mutation_p.P16A|RP11-18H7.1_ENST00000469070.1_lincRNA	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	16					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGCTGCACCGGCTTGCAGCTC	0.483																																						uc003edo.3																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(46-48)Ccg>Gcg		Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	Lithium(DB01356)						98	104	102					3																	119812236		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119812236G>C	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.46C>G	3.37:g.119812236G>C	ENSP00000264235:p.Pro16Ala					GSK3B_uc003edn.3_Missense_Mutation_p.P16A|BC035247_uc003edp.3_5'Flank	p.P16A	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	0	1029	-			16					D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.46C>G	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809349	0.31961	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.58506	0.33;0.38	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.42245	1.32	0.53688	D	0.999976	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.42310	-0.9459	9	.	.	.	-6.2625	15.0088	0.71533	0.0:0.0:1.0:0.0	.	16;16	P49841;P49841-2	GSK3B_HUMAN;.	A	16	ENSP00000264235:P16A;ENSP00000324806:P16A	.	P	-	1	0	GSK3B	121294926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.846000	0.92159	2.118000	0.64928	0.551000	0.68910	CCG		0.483	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			C	119812236	G	C	119812236	3	2	183	1	0	0	0	0	1	0	0	0	6824	1203	42	5	1303	5	GSK3B	3	119812236	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	74679316	119812236	78210194	19	12941											
WFS1	7466	broad.mit.edu	37	chr4	6302612	6302612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgatctgcaccctcaagGtgttccaggacagcaaggcc	9	8	12	12	0	2	1	1	1	1	0	3	2	3	2	3	4	2	3	3	4	2	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:6302612G>A	ENST00000226760.1	+	8	1260	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	WFS1_ENST00000503569.1_Missense_Mutation_p.V364M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	364					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACCCTCAAGGTGTTCCAGGA	0.572																																						uc003giy.3																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1090-1092)Gtg>Atg		Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.							285	215	238					4																	6302612		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302612G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1090G>A	4.37:g.6302612G>A	ENSP00000226760:p.Val364Met					WFS1_uc003gix.3_Missense_Mutation_p.V364M|WFS1_uc003giz.3_Missense_Mutation_p.V182M	p.V364M	NM_001145853	NP_005996	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	7	1256	+			364					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1090G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	7.016	0.557835	0.13436	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90069	-2.61;-2.61	4.84	3.99	0.46301	.	0.227351	0.36972	N	0.002304	D	0.82912	0.5140	L	0.48362	1.52	0.51012	D	0.999904	B	0.29341	0.242	B	0.26202	0.067	T	0.76323	-0.3001	10	0.12430	T	0.62	-25.7769	12.324	0.55001	0.0827:0.0:0.9173:0.0	.	364	O76024	WFS1_HUMAN	M	364	ENSP00000423337:V364M;ENSP00000226760:V364M	ENSP00000226760:V364M	V	+	1	0	WFS1	6353513	1.000000	0.71417	0.957000	0.39632	0.539000	0.34962	6.052000	0.71080	1.037000	0.40024	-0.299000	0.09455	GTG		0.572	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			A	6302612	G	A	6302612	3	1	183	1	0	0	0	0	1	0	0	0	17357	1261	44	3	1116	3	WFS1	4	6302612	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		6302612	184851664	20	12942											
TLR6	10333	broad.mit.edu	37	chr4	38830723	38830723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaatgagagatctaaatgCctgaaactcacaataggatg	16	10	9	6	0	2	4	1	3	1	1	2	6	2	5	1	1	2	0	1	1	6	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:38830723C>T	ENST00000381950.1	-	1	437	c.372G>A	c.(370-372)agG>agA	p.R124R	TLR6_ENST00000436693.2_Silent_p.R124R			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	124					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATCTAAATGCCTGAAACTCA	0.363																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(370-372)agG>agA		Homo sapiens toll-like receptor 6 (TLR6), mRNA.							62	61	61					4																	38830723		2203	4300	6503	SO:0001819	synonymous_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830723C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.372G>A	4.37:g.38830723C>T						TLR6_uc003gtm.3_Silent_p.R124R	p.R124R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	493	-			124					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	c.372G>A	CCDS3446.1																																																																																				0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			T	38830723	C	T	38830723	2	4	183	1	0	0	0	0	0	0	0	1	15952	738	26	3		3	TLR6	4	38830723	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08	32528111	38830723	152323553	21	12943											
PDGFRA	5156	broad.mit.edu	37	chr4	55155241	55155241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccttttaccacctgaGtgagattgtggagaatctgc	9	12	9	11	0	1	3	0	2	1	2	2	5	2	3	4	1	2	0	4	1	2	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:55155241G>C	ENST00000257290.5	+	21	3171	c.2840G>C	c.(2839-2841)aGt>aCt	p.S947T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S707T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	947	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TACCACCTGAGTGAGATTGTG	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2839-2841)aGt>aCt		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						163	155	158					4																	55155241		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55155241G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2840G>C	4.37:g.55155241G>C	ENSP00000257290:p.Ser947Thr	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Missense_Mutation_p.S707T	p.S947T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		20	3171	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		947			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2840G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593428	0.66219	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.88818	-2.43;-2.43	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37304	U	0.002145	D	0.88179	0.6367	L	0.29908	0.895	0.80722	D	1	P	0.36683	0.565	P	0.45449	0.481	D	0.85413	0.1138	10	0.34782	T	0.22	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	947	P16234	PGFRA_HUMAN	T	707;947	ENSP00000423325:S707T;ENSP00000257290:S947T	ENSP00000423325:S707T	S	+	2	0	FIP1L1;PDGFRA	54849998	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	4.331000	0.59273	2.885000	0.99019	0.655000	0.94253	AGT		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		C	55155241	G	C	55155241	3	2	183	1	0	0	0	0	1	0	0	0	11661	1029	36	5	2918	5	PDGFRA	4	55155241	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	16324518	55155241	135999035	22	12944											
PDCL2	132954	broad.mit.edu	37	chr4	56435994	56435994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaatttttgtttttTcttaagagctttccattcct	7	22	3	9	0	2	1	0	0	2	1	5	1	4	1	3	0	1	2	3	0	2	9	rs200093988		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:56435994T>C	ENST00000295645.4	-	4	355	c.253A>G	c.(253-255)Aaa>Gaa	p.K85E		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	85										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTTGTTTTTTCTTAAGAGCT	0.289													T|||	1	0.000199681	0	0	5008	,	,		15667	0.001		0	False		,,,				2504	0					uc003hbb.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(253-255)Aaa>Gaa		Homo sapiens phosducin-like 2 (PDCL2), mRNA.							63	51	55					4																	56435994		1782	4027	5809	SO:0001583	missense	132954							g.chr4:56435994T>C	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.253A>G	4.37:g.56435994T>C	ENSP00000295645:p.Lys85Glu						p.K85E	NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		3	356	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		85					A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.253A>G	CCDS47059.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	2.134	-0.398319	0.04865	.	.	ENSG00000163440	ENST00000295645	T	0.46819	0.86	5.55	3.1	0.35709	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.267000	0.32314	N	0.006267	T	0.30759	0.0775	L	0.28556	0.865	0.29023	N	0.886161	B	0.06786	0.001	B	0.11329	0.006	T	0.22941	-1.0202	10	0.12103	T	0.63	-17.4027	9.3203	0.37959	0.0:0.1516:0.0:0.8484	.	85	Q8N4E4	PDCL2_HUMAN	E	85	ENSP00000295645:K85E	ENSP00000295645:K85E	K	-	1	0	PDCL2	56130751	1.000000	0.71417	0.998000	0.56505	0.836000	0.47400	3.240000	0.51368	0.384000	0.24942	-0.250000	0.11733	AAA		0.289	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		C	56435994	T	C	56435994	3	2	183	1	0	0	0	0	1	0	0	0	11627	1792	62	4	484	4	PDCL2	4	56435994	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08	1280753	56435994	134718282	23	12945											
PPBP	5473	broad.mit.edu	37	chr4	74853312	74853312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgggatgaattccagagGttgtctttatacacatgcag	10	15	10	6	0	1	2	0	1	1	1	2	3	2	3	1	2	2	2	1	2	3	7			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:74853312G>T	ENST00000296028.3	-	2	299	c.206C>A	c.(205-207)aCc>aAc	p.T69N		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	69					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AATTCCAGAGGTTGTCTTTAT	0.418																																						uc003hhj.3																			0				breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10						c.(205-207)aCc>aAc		Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.							125	116	119					4																	74853312		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853312G>T	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.206C>A	4.37:g.74853312G>T	ENSP00000296028:p.Thr69Asn						p.T69N	NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	293	-	Breast(15;0.00136)		69					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.206C>A	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402464	0.42613	.	.	ENSG00000163736	ENST00000296028	T	0.05447	3.44	2.8	-4.38	0.03622	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.978866	0.08359	N	0.958035	T	0.11067	0.0270	L	0.37850	1.14	0.09310	N	1	D	0.63046	0.992	P	0.61800	0.894	T	0.14811	-1.0459	10	0.49607	T	0.09	3.8774	8.257	0.31763	0.8028:0.0:0.1972:0.0	.	69	P02775	CXCL7_HUMAN	N	69	ENSP00000296028:T69N	ENSP00000296028:T69N	T	-	2	0	PPBP	75072176	0.000000	0.05858	0.000000	0.03702	0.533000	0.34776	-1.433000	0.02428	-1.029000	0.03317	0.305000	0.20034	ACC		0.418	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		T	74853312	G	T	74853312	3	4	183	1	0	0	0	0	1	0	0	0	12303	1261	44	5	188	5	PPBP	4	74853312	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	18417318	74853312	116300964	24	12946											
TTC29	83894	broad.mit.edu	37	chr4	147824706	147824706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccactcaccatcttcctcGtagagaagacccatatgcat	11	9	6	15	1	2	2	1	0	1	2	4	3	3	2	4	0	1	2	4	0	3	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:147824706G>A	ENST00000325106.4	-	6	802	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TTC29_ENST00000513335.1_Silent_p.Y218Y|TTC29_ENST00000398886.4_Silent_p.Y218Y	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	192										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATCTTCCTCGTAGAGAAGAC	0.458																																						uc003ikx.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(652-654)taC>taT		Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.							94	91	92					4																	147824706		1906	4126	6032	SO:0001819	synonymous_variant	83894						binding	g.chr4:147824706G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.576C>T	4.37:g.147824706G>A						TTC29_uc003ikw.4_Silent_p.Y192Y|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.Y192Y	p.Y218Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			6	904	-	all_hematologic(180;0.151)		192					A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.654C>T	CCDS47141.1																																																																																				0.458	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		A	147824706	G	A	147824706	2	1	183	1	0	0	0	0	0	0	0	1	16693	1140	40	1		1	TTC29	4	147824706	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	72971394	147824706	43329570	25	12947											
WWC2	80014	broad.mit.edu	37	chr4	184166575	184166576	+	Frame_Shift_Ins	INS	-	-	A																															tctcttttcacagaattgatINSaaaaaaatgtctggaggcca																										TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:184166575_184166576insA	ENST00000403733.3	+	6	808_809	c.609_610insA	c.(610-612)aaafs	p.K204fs	WWC2_ENST00000513834.1_Frame_Shift_Ins_p.K204fs|WWC2_ENST00000378925.3_Frame_Shift_Ins_p.K106fs|WWC2_ENST00000448232.2_Frame_Shift_Ins_p.K204fs|WWC2_ENST00000504005.1_Intron	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	204					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAATTGATAAAAAAATGTC	0.356																																						uc010irx.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(607-612)gataaafs		Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.																																				SO:0001589	frameshift_variant	80014							g.chr4:184166575_184166576insA	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.616dupA	4.37:g.184166582_184166582dupA	ENSP00000384222:p.Lys204fs					WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	p.D203fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	5	791_792	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	203					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Ins	INS	ENST00000403733.3	37	c.609_610insA	CCDS34109.2																																																																																				0.356	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		A	184166576	-	A	184166575	7	5	183	1	0	1	1	0	0	0	0	0	17409	1403	49	0	631	0	WWC2	4	184166575	Frame_Shift_Ins	INS	-	TCGA-27-1831-01A-01D-1494-08	36341869	184166575	6987701	26	12948											
CDC20B	166979	broad.mit.edu	37	chr5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagcatatttctcagcCgctttttagttaccacatcc	10	13	5	13	1	1	0	1	0	1	0	3	1	2	0	4	0	3	3	4	0	4	6	rs200952851	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:54423154C>T	ENST00000381375.2	-	8	1065	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	CDC20B_ENST00000334206.5_Missense_Mutation_p.R307Q|CDC20B_ENST00000296733.1_Missense_Mutation_p.R307Q|CDC20B_ENST00000322374.6_Missense_Mutation_p.R307Q			Q86Y33	CD20B_HUMAN	cell division cycle 20B	307								p.R307Q(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438													C|||	2	0.000399361	0	0.0014	5008	,	,		19603	0		0	False		,,,				2504	0.001					uc003jpo.2																			1	Substitution - Missense(1)	p.R307Q(2)	large_intestine(1)	kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(919-921)cGg>cAg		Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	99	101	100		920,920,920	0	1	5		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CDC20B	NM_001145734.2,NM_001170402.1,NM_152623.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	307/478,307/520,307/516	54423154	1,13005	2203	4300	6503	SO:0001583	missense	166979							g.chr5:54423154C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.920G>A	5.37:g.54423154C>T	ENSP00000370781:p.Arg307Gln					CDC20B_uc003jpn.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R307Q	p.R307Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		7	1097	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	307					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.920G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956611	0.34565	0.0	1.16E-4	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.56	-0.0407	0.13871	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.395622	0.18070	N	0.152668	T	0.15652	0.0377	N	0.17312	0.475	0.80722	D	1	B;B;B;B	0.26363	0.147;0.014;0.008;0.014	B;B;B;B	0.16722	0.014;0.016;0.007;0.012	T	0.07908	-1.0748	10	0.33141	T	0.24	-29.7981	9.1538	0.36980	0.0:0.528:0.0:0.472	.	307;307;307;307	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	Q	307	ENSP00000335664:R307Q;ENSP00000296733:R307Q;ENSP00000370781:R307Q;ENSP00000315720:R307Q	ENSP00000296733:R307Q	R	-	2	0	CDC20B	54458911	0.041000	0.20044	0.958000	0.39756	0.882000	0.50991	0.217000	0.17603	-0.138000	0.11434	-0.736000	0.03550	CGG		0.438	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		T	54423154	C	T	54423154	3	4	183	1	0	0	0	0	1	0	0	0	3060	652	23	2	659	2	CDC20B	5	54423154	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		54423154	126492106	27	12949											
FAT2	2196	broad.mit.edu	37	chr5	150947475	150947475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaataaaaataagggcCgctcccactcctggcctgga	11	7	11	12	1	0	0	0	0	0	0	2	2	2	2	4	4	0	1	4	4	5	2	rs377056065		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:150947475C>T	ENST00000261800.5	-	1	1030	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	340					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATAAGGGCCGCTCCCACTC	0.502																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1018-1020)Ggc>Agc		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.		C	SER/GLY	0,4406		0,0,2203	96	106	103		1018	0.2	0	5		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT2	NM_001447.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	340/4350	150947475	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947475C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1018G>A	5.37:g.150947475C>T	ENSP00000261800:p.Gly340Ser					FAT2_uc010jhx.1_Missense_Mutation_p.G340S	p.G340S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	1031	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	340					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1018G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848585	0.00563	0.0	1.16E-4	ENSG00000086570	ENST00000261800	T	0.68903	-0.36	5.55	0.233	0.15386	.	0.923878	0.09169	N	0.839209	T	0.26774	0.0655	N	0.01168	-0.975	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27872	-1.0061	10	0.02654	T	1	.	1.5051	0.02484	0.1282:0.2185:0.133:0.5203	.	340	Q9NYQ8	FAT2_HUMAN	S	340	ENSP00000261800:G340S	ENSP00000261800:G340S	G	-	1	0	FAT2	150927668	0.002000	0.14202	0.000000	0.03702	0.342000	0.28953	1.301000	0.33447	-0.177000	0.10690	-0.339000	0.08088	GGC		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150947475	C	T	150947475	3	4	183	1	0	0	0	0	1	0	0	0	5690	652	23	2	12123	2	FAT2	5	150947475	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	96524321	150947475	29967785	28	12950											
LARP1	23367	broad.mit.edu	37	chr5	154193504	154193504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtagcaggaggtggcGgcggtgagggcaggaagcgg	8	4	23	6	3	0	1	0	1	0	0	0	3	0	3	0	9	2	3	0	9	2	1	rs372005840		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:154193504G>A	ENST00000336314.4	+	19	2932	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1047					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGGTGGCGGCGGTGAGGG	0.637													G|||	1	0.000199681	0	0	5008	,	,		14046	0		0.001	False		,,,				2504	0					uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2908-2910)Ggc>Agc		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	70	67	68		2908	-3.3	0.5	5		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARP1	NM_015315.3	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	970/1020	154193504	2,13004	2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154193504G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2908G>A	5.37:g.154193504G>A	ENSP00000336721:p.Gly970Ser					LARP1_uc021ygh.1_Missense_Mutation_p.G842S	p.G970S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		18	2932	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1047					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2908G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.771524	0.00645	2.27E-4	1.16E-4	ENSG00000155506	ENST00000336314	T	0.21031	2.03	3.71	-3.29	0.05017	.	0.313898	0.31010	N	0.008434	T	0.06781	0.0173	N	0.08118	0	0.25051	N	0.991139	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.38757	-0.9646	10	0.02654	T	1	-1.0319	9.8656	0.41140	0.3875:0.0:0.6125:0.0	.	1047;970	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	S	970	ENSP00000336721:G970S	ENSP00000336721:G970S	G	+	1	0	LARP1	154173697	0.080000	0.21391	0.548000	0.28192	0.263000	0.26337	-1.195000	0.03043	-0.633000	0.05545	-0.339000	0.08088	GGC		0.637	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		A	154193504	G	A	154193504	3	1	183	1	0	0	0	0	1	0	0	0	8628	1116	39	2	2982	2	LARP1	5	154193504	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	3246029	154193504	26721756	29	12951											
EYA4	2070	broad.mit.edu	37	chr6	133844286	133844286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggaggtgctttccccaTtgagaatatttacagtgcaa	11	14	9	7	0	0	1	0	1	0	1	1	3	1	2	2	2	3	2	2	2	5	7			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr6:133844286T>C	ENST00000367895.5	+	18	2173	c.1709T>C	c.(1708-1710)aTt>aCt	p.I570T	EYA4_ENST00000452339.2_Missense_Mutation_p.I516T|EYA4_ENST00000355167.3_Missense_Mutation_p.I570T|EYA4_ENST00000355286.6_Missense_Mutation_p.I547T|EYA4_ENST00000525849.1_Missense_Mutation_p.I547T|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.I576T|EYA4_ENST00000431403.2_Missense_Mutation_p.I570T|EYA4_ENST00000430974.2_Missense_Mutation_p.I522T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	570					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCTTTCCCCATTGAGAATATT	0.383																																					Melanoma(57;398 1237 3528 4702 7415)	uc011ecs.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1726-1728)aTt>aCt		Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.							121	120	120					6																	133844286		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844286T>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1709T>C	6.37:g.133844286T>C	ENSP00000356870:p.Ile570Thr					EYA4_uc011ecq.2_Missense_Mutation_p.I516T|EYA4_uc011ecr.2_Missense_Mutation_p.I522T|EYA4_uc003qec.4_Missense_Mutation_p.I570T|EYA4_uc003qed.4_Missense_Mutation_p.I570T|EYA4_uc003qee.4_Missense_Mutation_p.I547T|BC041459_uc003qeg.1_Intron	p.I576T	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	17	2043	+	Colorectal(23;0.221)		570					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1727T>C	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637426	0.87760	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-2.89;-3.01;-4.43;-2.99;-4.43;-4.43;-4.43	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.043330	0.85682	D	0.000000	D	0.98375	0.9460	M	0.83118	2.625	0.80722	D	1	D;D;P;P;D;D	0.63046	0.986;0.992;0.907;0.904;0.986;0.986	D;D;D;D;D;D	0.87578	0.995;0.998;0.958;0.966;0.995;0.995	D	0.99737	1.1014	10	0.87932	D	0	-25.0835	16.5602	0.84551	0.0:0.0:0.0:1.0	.	576;522;516;547;570;570	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	T	516;522;570;570;547;576;547;570	ENSP00000395916:I516T;ENSP00000388670:I522T;ENSP00000356870:I570T;ENSP00000347294:I570T;ENSP00000347434:I547T;ENSP00000432770:I576T;ENSP00000433219:I547T;ENSP00000404558:I570T	ENSP00000347294:I570T	I	+	2	0	EYA4	133885979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATT		0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		C	133844286	T	C	133844286	3	2	183	1	0	0	0	0	1	0	0	0	5331	1493	52	4	1775	4	EYA4	6	133844286	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08		133844286	37270781	30	12952											
SDK1	221935	broad.mit.edu	37	chr7	4050700	4050700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcaattccgggtgtgcgCggtgaatgaagtgggcaggg	8	9	17	7	3	1	2	1	2	0	0	2	2	2	2	1	4	1	1	1	4	4	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:4050700C>T	ENST00000404826.2	+	15	2373	c.2234C>T	c.(2233-2235)gCg>gTg	p.A745V	SDK1_ENST00000389531.3_Missense_Mutation_p.A745V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	745	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGTGTGCGCGGTGAATGAA	0.622																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2233-2235)gCg>gTg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							46	42	43					7																	4050700		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4050700C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2234C>T	7.37:g.4050700C>T	ENSP00000385899:p.Ala745Val					SDK1_uc010kso.3_Missense_Mutation_p.A21V	p.A745V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2373	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	745			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2234C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196605	0.79015	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68624	-0.34;-0.34	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.88858	0.6551	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.976	D	0.92736	0.6204	10	0.87932	D	0	.	19.1202	0.93360	0.0:1.0:0.0:0.0	.	745;745	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	V	745	ENSP00000385899:A745V;ENSP00000374182:A745V	ENSP00000374182:A745V	A	+	2	0	SDK1	4017226	1.000000	0.71417	0.662000	0.29724	0.106000	0.19336	7.385000	0.79763	2.504000	0.84457	0.655000	0.94253	GCG		0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4050700	C	T	4050700	3	4	183	1	0	0	0	0	1	0	0	0	13968	768	27	1	2292	1	SDK1	7	4050700	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		4050700	155087963	31	12953											
TMEM196	256130	broad.mit.edu	37	chr7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgttcataactggctagtCgacaagtgagccaggaagag	12	9	12	8	1	2	2	1	1	1	1	3	4	2	3	1	2	2	2	1	2	4	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:19765216C>T	ENST00000405764.3	-	3	1076	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498																																						uc011jyg.2																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(379-381)cGa>cAa		Homo sapiens transmembrane protein 196 (TMEM196), mRNA.							85	75	79					7																	19765216		2203	4300	6503	SO:0001583	missense	256130					integral to membrane		g.chr7:19765216C>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.380G>A	7.37:g.19765216C>T	ENSP00000384234:p.Arg127Gln					TMEM196_uc003sur.3_Non-coding_Transcript	p.R127Q	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			2	465	-			133					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.380G>A	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	TMEM196	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA		0.498	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		T	19765216	C	T	19765216	3	4	183	1	0	0	0	0	1	0	0	0	16115	884	31	2	146	2	TMEM196	7	19765216	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	15714516	19765216	139373447	32	12954											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		6	Substitution - Missense(6)	p.R108K(13)|p.V30_R297>G(5)	central_nervous_system(6)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)aGa>aAa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	119	119					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55211080	G	A	55211080	3	1	183	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	35445864	55211080	103927583	33	12955											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	183	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	10742	55221822	103916841	34	12956											
EGFR	1956	broad.mit.edu	37	chr7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcttgaggatcttgaagGaaactgaattcaaaaagatc	15	11	8	7	0	3	4	1	3	2	1	5	6	3	6	0	2	1	0	0	2	5	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000455089.1_Missense_Mutation_p.E664K|EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		20	Substitution - Missense(19)|Deletion - Frameshift(1)	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)	lung(15)|upper_aerodigestive_tract(2)|prostate(2)|ovary(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2125-2127)Gaa>Aaa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88	91	90					7																	55241677		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241677G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2125G>A	7.37:g.55241677G>A	ENSP00000275493:p.Glu709Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	p.E709K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2371	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		709		E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2125G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304179	0.95601	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61859	0.07;0.07;0.07	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.71581	2.175	0.80722	D	1	P;P	0.49862	0.929;0.912	B;P	0.46172	0.283;0.506	T	0.70454	-0.4867	10	0.87932	D	0	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	664;709	Q504U8;P00533	.;EGFR_HUMAN	K	664;579;709;656	ENSP00000415559:E664K;ENSP00000275493:E709K;ENSP00000395243:E656K	ENSP00000275493:E709K	E	+	1	0	EGFR	55209171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.833000	0.99426	2.745000	0.94114	0.563000	0.77884	GAA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55241677	G	A	55241677	3	1	183	1	0	0	0	0	1	0	0	0	4967	1175	41	3	2459	3	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	19855	55241677	103896986	35	12957			1	35		2	2	18	G		3.953827e-05
EGFR	1956	broad.mit.edu	37	chr7	55241694	55241694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaactgaattcaaaaaGatcaaagtgctgggctccgg	16	7	11	7	1	2	2	2	1	0	1	3	3	3	3	1	3	2	2	1	3	6	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241694G>C	ENST00000275493.2	+	18	2319	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	EGFR_ENST00000455089.1_Missense_Mutation_p.K669N|EGFR_ENST00000454757.2_Missense_Mutation_p.K661N|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.K714N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AATTCAAAAAGATCAAAGTGC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.K714N(2)|p.K713F(2)	lung(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2140-2142)aaG>aaC		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						77	80	79					7																	55241694		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241694G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2142G>C	7.37:g.55241694G>C	ENSP00000275493:p.Lys714Asn	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.K714N|EGFR_uc010kzg.2_Missense_Mutation_p.K669N|EGFR_uc022adn.1_Missense_Mutation_p.K669N|EGFR_uc011kco.2_Missense_Mutation_p.K661N	p.K714N	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2388	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		714			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2142G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454669	0.43634	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82711	-1.64;-1.64;-1.64	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83917	0.5358	N	0.17674	0.51	0.49687	D	0.999812	D;D	0.89917	0.989;1.0	P;D	0.79784	0.598;0.993	D	0.85349	0.1100	10	0.87932	D	0	.	12.0557	0.53533	0.079:0.0:0.921:0.0	.	669;714	Q504U8;P00533	.;EGFR_HUMAN	N	669;584;714;661	ENSP00000415559:K669N;ENSP00000275493:K714N;ENSP00000395243:K661N	ENSP00000275493:K714N	K	+	3	2	EGFR	55209188	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	2.794000	0.47853	2.745000	0.94114	0.563000	0.77884	AAG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55241694	G	C	55241694	3	2	183	1	0	0	0	0	1	0	0	0	4967	933	33	5	2476	5	EGFR	7	55241694	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	17	55241694	103896969	36	12958			1	35		2	2	18	G		3.953827e-05
ZNF3	7551	broad.mit.edu	37	chr7	99669056	99669056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatagaggtgtgagctctGgctgaaggctttcccacatt	8	12	12	9	0	1	4	0	3	1	1	2	4	2	4	1	3	1	3	1	3	2	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:99669056G>A	ENST00000424697.1	-	6	1357	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Nonsense_Mutation_p.Q351*|ZNF3_ENST00000303915.6_Nonsense_Mutation_p.Q351*	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	351				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). {ECO:0000305}.	cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTGAGCTCTGGCTGAAGGCT	0.473																																						uc003uss.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(1072-1074)Cag>Tag		Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.							88	94	92					7																	99669056		2203	4300	6503	SO:0001587	stop_gained	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669056G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1051C>T	7.37:g.99669056G>A	ENSP00000415358:p.Gln351*					ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.3_Nonsense_Mutation_p.Q315*|ZNF3_uc003usr.3_Nonsense_Mutation_p.Q351*|ZNF3_uc003ust.4_Nonsense_Mutation_p.Q351*	p.Q358*			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	1390	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	351	GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).				D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Nonsense_Mutation	SNP	ENST00000424697.1	37	c.1072C>T	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	44	10.565410	0.99428	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	.	.	.	4.75	4.75	0.60458	.	0.000000	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-19.1983	11.336	0.49505	0.0:0.1838:0.8162:0.0	.	.	.	.	X	351	.	ENSP00000299667:Q351X	Q	-	1	0	ZNF3	99506992	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.190000	0.17057	2.648000	0.89879	0.655000	0.94253	CAG		0.473	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		A	99669056	G	A	99669056	4	1	183	1	0	0	0	0	0	1	0	0	17826	1357	47	3	422	3	ZNF3	7	99669056	Nonsense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	44427362	99669056	59469607	37	12959											
SERPINE1	5054	broad.mit.edu	37	chr7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaagagcctctccacGtcgcgcaggcgctgcagaaa	11	4	11	15	4	1	3	0	0	1	3	3	3	1	3	3	1	2	3	3	1	2	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:100779013G>A	ENST00000223095.4	+	7	1175	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_ENST00000445463.2_Missense_Mutation_p.V325I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	340					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582																																						uc003uxt.3																			1	Substitution - Missense(1)	p.V340I(2)	endometrium(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1018-1020)Gtc>Atc		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						88	82	84					7																	100779013		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779013G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1018G>A	7.37:g.100779013G>A	ENSP00000223095:p.Val340Ile					SERPINE1_uc011kkj.2_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	p.V340I	NM_000602	NP_000593	P05121	PAI1_HUMAN			6	1166	+	Lung NSC(181;0.136)|all_lung(186;0.182)		340					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1018G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572893	0.65765	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	D;D	0.85411	-1.98;-1.98	5.53	5.53	0.82687	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.85487	0.5708	L	0.46614	1.455	0.80722	D	1	P;P	0.44195	0.793;0.828	B;P	0.48840	0.434;0.592	T	0.83257	-0.0050	10	0.28530	T	0.3	.	16.9514	0.86246	0.0:0.0:1.0:0.0	.	325;340	F8WD53;P05121	.;PAI1_HUMAN	I	340;325;117	ENSP00000223095:V340I;ENSP00000396766:V325I	ENSP00000223095:V340I	V	+	1	0	SERPINE1	100565733	0.998000	0.40836	0.071000	0.20095	0.161000	0.22273	2.733000	0.47360	2.588000	0.87417	0.561000	0.74099	GTC		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		A	100779013	G	A	100779013	3	1	183	1	0	0	0	0	1	0	0	0	14111	1145	40	1	1040	1	SERPINE1	7	100779013	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	1109957	100779013	58359650	38	12960											
RELN	5649	broad.mit.edu	37	chr7	103205920	103205920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgaagggcttgctaCagcccatgctcatttcaaac	10	11	9	11	0	2	1	2	1	0	0	2	1	2	1	1	1	6	5	1	1	3	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:103205920C>T	ENST00000428762.1	-	34	5174	c.5015G>A	c.(5014-5016)tGt>tAt	p.C1672Y	RELN_ENST00000343529.5_Missense_Mutation_p.C1672Y|RELN_ENST00000424685.2_Missense_Mutation_p.C1672Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1672					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGCTTGCTACAGCCCATGCT	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5014-5016)tGt>tAt		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							97	85	89					7																	103205920		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205920C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5015G>A	7.37:g.103205920C>T	ENSP00000392423:p.Cys1672Tyr					RELN_uc022ajq.1_Missense_Mutation_p.C1672Y|RELN_uc010liz.3_Missense_Mutation_p.C1672Y	p.C1672Y	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	5175	-			1672					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5015G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665214	0.88251	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.31769	1.48;1.48;1.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.84585	2.705	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.81914	0.995;0.988	T	0.65401	-0.6177	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1672;1672	P78509-2;P78509	.;RELN_HUMAN	Y	1672	ENSP00000392423:C1672Y;ENSP00000345694:C1672Y;ENSP00000388446:C1672Y	ENSP00000345694:C1672Y	C	-	2	0	RELN	102993156	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.280000	0.78610	2.941000	0.99782	0.655000	0.94253	TGT		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103205920	C	T	103205920	3	4	183	1	0	0	0	0	1	0	0	0	13220	478	17	3	5495	3	RELN	7	103205920	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	2426907	103205920	55932743	39	12961											
NRCAM	4897	broad.mit.edu	37	chr7	107824688	107824688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggcatcatagctcaccttCcacgtaatcaccaaattatc	14	10	4	13	1	3	0	3	0	0	0	5	0	4	0	3	1	1	3	3	1	5	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:107824688C>A	ENST00000425651.2	-	19	2300	c.2301G>T	c.(2299-2301)tgG>tgT	p.W767C	NRCAM_ENST00000379028.3_Missense_Mutation_p.W767C|NRCAM_ENST00000379024.4_Missense_Mutation_p.W748C|NRCAM_ENST00000379022.4_Missense_Mutation_p.W767C|NRCAM_ENST00000351718.4_Missense_Mutation_p.W751C|NRCAM_ENST00000413765.2_Missense_Mutation_p.W748C	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	767	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCTCACCTTCCACGTAATCA	0.368																																						uc022aka.1																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2299-2301)tgG>tgT		Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.							83	71	75					7																	107824688		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107824688C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2301G>T	7.37:g.107824688C>A	ENSP00000401244:p.Trp767Cys					NRCAM_uc011kmk.2_Missense_Mutation_p.W767C|NRCAM_uc003vfd.3_Missense_Mutation_p.W748C|NRCAM_uc003vfe.3_Missense_Mutation_p.W748C|NRCAM_uc003vfc.3_Missense_Mutation_p.W751C	p.W767C	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			18	2407	-			767			Fibronectin type-III 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2301G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247751	0.80024	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.96364	0.9268	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	767;748;748;751;767	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	C	767;767;748;767;751;748;767;767;751	ENSP00000368314:W767C;ENSP00000407858:W748C;ENSP00000325269:W751C;ENSP00000368310:W748C;ENSP00000401244:W767C;ENSP00000368308:W767C	ENSP00000325269:W751C	W	-	3	0	NRCAM	107611924	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.548000	0.85928	0.591000	0.81541	TGG		0.368	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		A	107824688	C	A	107824688	3	1	183	1	0	0	0	0	1	0	0	0	10644	856	30	5	1691	5	NRCAM	7	107824688	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	4618768	107824688	51313975	40	12962											
FAM71F1	84691	broad.mit.edu	37	chr7	128355633	128355633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcctgtggatggagagccGaaccctggagcgggcctagg	7	7	17	10	2	0	1	0	0	0	1	0	5	0	3	4	5	4	0	4	5	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:128355633G>A	ENST00000315184.5	+	1	191	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	46										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGGAGAGCCGAACCCTGGAG	0.522																																						uc003vno.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(136-138)ccG>ccA		Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.							75	83	80					7																	128355633		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128355633G>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.138G>A	7.37:g.128355633G>A						FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P46P	p.P46P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			0	191	+			46					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.138G>A	CCDS5804.1																																																																																				0.522	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		A	128355633	G	A	128355633	2	1	183	1	0	0	0	0	0	0	0	1	5612	1045	37	2		2	FAM71F1	7	128355633	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	20530945	128355633	30783030	41	12963											
UBE3C	9690	broad.mit.edu	37	chr7	157041143	157041143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggaaccagtgccgacgtgGacattcaccacctcgcctcc	8	8	9	16	3	1	0	1	0	0	0	3	3	2	2	6	2	2	0	6	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:157041143G>A	ENST00000348165.5	+	19	2923	c.2563G>A	c.(2563-2565)Gac>Aac	p.D855N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	855	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCCGACGTGGACATTCACCA	0.502																																						uc010lqs.3																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2563-2565)Gac>Aac		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							140	139	139					7																	157041143		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041143G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2563G>A	7.37:g.157041143G>A	ENSP00000309198:p.Asp855Asn					UBE3C_uc003wni.4_Missense_Mutation_p.D218N	p.D855N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	18	2875	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	855			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2563G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486520	0.63962	.	.	ENSG00000009335	ENST00000348165	T	0.42131	0.98	5.74	5.74	0.90152	HECT (4);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	N	0.20685	0.6	0.80722	D	1	B;B	0.31054	0.306;0.154	B;B	0.43575	0.35;0.424	T	0.22626	-1.0211	10	0.29301	T	0.29	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	855;708	Q15386;B4DHJ9	UBE3C_HUMAN;.	N	855	ENSP00000309198:D855N	ENSP00000309198:D855N	D	+	1	0	UBE3C	156733904	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.360000	0.97119	2.702000	0.92279	0.655000	0.94253	GAC		0.502	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	157041143	G	A	157041143	3	1	183	1	0	0	0	0	1	0	0	0	16878	1174	41	3	2637	3	UBE3C	7	157041143	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	28685510	157041143	2097520	42	12964											
UBR5	51366	broad.mit.edu	37	chr8	103289358	103289358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttccccttcttttttttgCcggttttgcatgttcattac	3	22	5	11	1	3	0	1	0	2	0	4	0	4	0	3	1	3	3	3	1	1	10	rs375287861	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:103289358C>T	ENST00000520539.1	-	45	6957	c.6351G>A	c.(6349-6351)cgG>cgA	p.R2117R	UBR5_ENST00000220959.4_Silent_p.R2117R|UBR5_ENST00000521922.1_Silent_p.R2111R	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2117					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R2117R(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTTTTTTGCCGGTTTTGCA	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			1	Substitution - coding silent(1)	p.R2117R(2)	prostate(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6349-6351)cgG>cgA		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							133	127	129					8																	103289358		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289358C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6351G>A	8.37:g.103289358C>T						UBR5_uc003yks.2_Silent_p.R2117R	p.R2117R	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6806	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2117					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6351G>A	CCDS34933.1																																																																																				0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103289358	C	T	103289358	2	4	183	1	0	0	0	0	0	0	0	1	16902	726	26	3		3	UBR5	8	103289358	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		103289358	43074664	43	12965											
COL14A1	7373	broad.mit.edu	37	chr8	121267573	121267573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccatgccacagcctatagGgttgttatagaatccctcca	10	10	8	13	1	0	1	0	0	0	1	2	1	2	1	5	1	2	2	5	1	5	5			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:121267573G>T	ENST00000297848.3	+	23	3117	c.2847G>T	c.(2845-2847)agG>agT	p.R949S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R949S|COL14A1_ENST00000247781.3_Missense_Mutation_p.R854S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCTATAGGGTTGTTATAG	0.453																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2845-2847)agG>agT		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							135	119	124					8																	121267573		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121267573G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2847G>T	8.37:g.121267573G>T	ENSP00000297848:p.Arg949Ser					COL14A1_uc003yoy.3_Missense_Mutation_p.R627S	p.R949S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		22	3112	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		949			Fibronectin type-III 8.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2847G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519806	0.27211	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.49	-1.1	0.09872	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.71206	2.165	0.80722	D	1	D;P	0.89917	1.0;0.698	D;P	0.74023	0.982;0.451	T	0.64719	-0.6341	10	0.56958	D	0.05	.	11.898	0.52667	0.5624:0.0:0.4376:0.0	.	949;949	Q05707-2;Q05707	.;COEA1_HUMAN	S	949;949;854;762	ENSP00000311809:R949S;ENSP00000297848:R949S;ENSP00000247781:R854S;ENSP00000409461:R762S	ENSP00000247781:R854S	R	+	3	2	COL14A1	121336754	0.253000	0.23982	0.010000	0.14722	0.080000	0.17528	0.439000	0.21575	-0.453000	0.07076	-1.030000	0.02411	AGG		0.453	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121267573	G	T	121267573	3	4	183	1	0	0	0	0	1	0	0	0	3671	1223	43	5	2933	5	COL14A1	8	121267573	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	17978215	121267573	25096449	44	12966											
IFNE	338376	broad.mit.edu	37	chr9	21481272	21481272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtacattttaacttgtaatCtaaggttatcactacccaaa	15	14	4	8	0	2	0	1	0	1	0	2	0	2	0	1	1	3	3	1	1	7	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr9:21481272C>T	ENST00000448696.3	-	1	1040	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	141					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						AACTTGTAATCTAAGGTTATC	0.433																																						uc003zpg.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(421-423)aGa>aAa		Homo sapiens interferon, epsilon (IFNE), mRNA.							197	189	191					9																	21481272		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481272C>T	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.422G>A	9.37:g.21481272C>T	ENSP00000418018:p.Arg141Lys					MIR31HG_uc003zpe.2_Intron	p.R141K	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN			0	1041	-			141						Missense_Mutation	SNP	ENST00000448696.3	37	c.422G>A	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.588990	0.00864	.	.	ENSG00000184995	ENST00000448696	T	0.03181	4.02	4.93	4.04	0.47022	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.138088	0.28420	U	0.015412	T	0.05823	0.0152	L	0.48935	1.535	0.09310	N	1	B	0.32862	0.387	B	0.36608	0.229	T	0.19484	-1.0304	10	0.56958	D	0.05	.	13.1056	0.59246	0.0:0.8387:0.1613:0.0	.	141	Q86WN2	IFNE_HUMAN	K	141	ENSP00000418018:R141K	ENSP00000418018:R141K	R	-	2	0	IFNE	21471272	0.001000	0.12720	0.009000	0.14445	0.038000	0.13279	0.188000	0.17018	1.444000	0.47605	-0.127000	0.14921	AGA		0.433	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		T	21481272	C	T	21481272	3	4	183	1	0	0	0	0	1	0	0	0	7547	913	32	3	208	3	IFNE	9	21481272	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		21481272	119732159	45	12967											
OIT3	170392	broad.mit.edu	37	chr10	74666378	74666378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgaatgtgagcaaaacaAcggtggctgcagtgagatct	15	8	12	6	1	1	3	0	3	1	1	1	4	1	3	0	2	4	3	0	2	5	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:74666378A>G	ENST00000334011.5	+	4	787	c.569A>G	c.(568-570)aAc>aGc	p.N190S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	190	EGF-like; calcium-binding. {ECO:0000255}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCAAAACAACGGTGGCTGC	0.488																																					Colon(7;19 345 13446 17537)	uc001jte.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(568-570)aAc>aGc		Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.							213	196	202					10																	74666378		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74666378A>G		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.569A>G	10.37:g.74666378A>G	ENSP00000333900:p.Asn190Ser					OIT3_uc009xqs.1_Non-coding_Transcript	p.N190S	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			3	787	+	Prostate(51;0.0198)		190			EGF-like; calcium-binding (Potential).		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.569A>G	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032602	0.19590	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.98493	-4.96	5.48	5.48	0.80851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000007	D	0.98416	0.9473	L	0.59912	1.85	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.98683	1.0693	10	0.34782	T	0.22	-26.4572	15.6059	0.76672	1.0:0.0:0.0:0.0	.	190	Q8WWZ8	OIT3_HUMAN	S	190	ENSP00000333900:N190S	ENSP00000333900:N190S	N	+	2	0	OIT3	74336384	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.058000	0.89460	2.081000	0.62600	0.533000	0.62120	AAC		0.488	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		G	74666378	A	G	74666378	3	3	183	1	0	0	0	0	1	0	0	0	10849	43	2	4	583	4	OIT3	10	74666378	Missense_Mutation	SNP	A	TCGA-27-1831-01A-01D-1494-08		74666378	60868369	46	12968											
EBF3	253738	broad.mit.edu	37	chr10	131640486	131640486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggttgttgcccagggtgggGatctggttgtgattgcgggg	3	12	21	5	1	1	1	0	1	1	0	1	2	1	2	1	7	2	3	1	7	0	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:131640486G>C	ENST00000355311.5	-	13	1338	c.1266C>G	c.(1264-1266)atC>atG	p.I422M	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.I413M			Q9H4W6	COE3_HUMAN	early B-cell factor 3	422					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCAGGGTGGGGATCTGGTTGT	0.617																																						uc021qav.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1195-1197)atC>atG		Homo sapiens early B-cell factor 3 (EBF3), mRNA.							242	198	213					10																	131640486		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640486G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1266C>G	10.37:g.131640486G>C	ENSP00000347463:p.Ile422Met					EBF3_uc001lki.2_Missense_Mutation_p.I413M	p.I399M	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	12	1298	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	422					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1197C>G		.	.	.	.	.	.	.	.	.	.	G	14.73	2.621394	0.46736	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.48201	0.82;0.82	5.54	-2.69	0.06022	.	0.069593	0.85682	D	0.000000	T	0.35480	0.0933	L	0.40543	1.245	0.44899	D	0.997912	B	0.31209	0.313	B	0.38378	0.272	T	0.05354	-1.0890	10	0.42905	T	0.14	-24.0753	7.1309	0.25499	0.1733:0.0:0.3855:0.4412	.	413	Q9H4W6-2	.	M	422;413	ENSP00000347463:I422M;ENSP00000357637:I413M	ENSP00000347463:I422M	I	-	3	3	EBF3	131530476	0.993000	0.37304	0.980000	0.43619	0.982000	0.71751	0.319000	0.19522	-0.411000	0.07530	-0.974000	0.02594	ATC		0.617	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		C	131640486	G	C	131640486	3	2	183	1	0	0	0	0	1	0	0	0	4882	1164	41	5	432	5	EBF3	10	131640486	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	56974108	131640486	3894261	47	12969											
OR52J3	119679	broad.mit.edu	37	chr11	5068212	5068212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagcatgtgcattgtaattCgtcccgttttacttacactt	8	18	6	9	2	0	0	0	0	0	0	2	0	1	0	1	0	4	4	1	0	4	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:5068212C>T	ENST00000380370.1	+	1	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTAATTCGTCCCGTTTT	0.468																																						uc010qyv.2																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(457-459)Cgt>Tgt		Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.							195	129	151					11																	5068212		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068212C>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.457C>T	11.37:g.5068212C>T	ENSP00000369728:p.Arg153Cys						p.R153C	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	457	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	153					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.457C>T	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	3.327	-0.137503	0.06711	.	.	ENSG00000205495	ENST00000380370	T	0.37235	1.21	4.19	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.594848	0.15011	N	0.285528	T	0.45357	0.1338	H	0.94306	3.52	0.09310	N	0.999999	B	0.20052	0.041	B	0.18561	0.022	T	0.51498	-0.8698	10	0.72032	D	0.01	.	4.538	0.12043	0.1743:0.6348:0.0:0.1909	.	153	Q8NH60	O52J3_HUMAN	C	153	ENSP00000369728:R153C	ENSP00000369728:R153C	R	+	1	0	OR52J3	5024788	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	-3.580000	0.00424	0.082000	0.17018	-0.136000	0.14681	CGT		0.468	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068212	C	T	5068212	3	4	183	1	0	0	0	0	1	0	0	0	11122	884	31	2	459	2	OR52J3	11	5068212	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		5068212	129938304	48	12970											
SLC5A12	159963	broad.mit.edu	37	chr11	26718717	26718717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgctatactaacctcagaGttccactgaaggcacaagcc	12	9	8	12	0	1	2	1	1	0	1	2	2	2	2	3	1	4	4	3	1	5	5			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:26718717G>A	ENST00000396005.3	-	8	1343	c.1034C>T	c.(1033-1035)aCt>aTt	p.T345I	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T345I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	345					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAACCTCAGAGTTCCACTGAA	0.438																																						uc001mra.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1033-1035)aCt>aTt		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.							137	124	129					11																	26718717		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26718717G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1034C>T	11.37:g.26718717G>A	ENSP00000379326:p.Thr345Ile					SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.T345I	p.T345I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			7	1347	-			345					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1034C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	33	5.237443	0.95240	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.84223	-1.82;-1.82	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.92077	3.27	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	D;D	0.91635	0.987;0.999	D	0.95121	0.8246	10	0.87932	D	0	.	20.1726	0.98160	0.0:0.0:1.0:0.0	.	345;345	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	I	345	ENSP00000379326:T345I;ENSP00000280467:T345I	ENSP00000280467:T345I	T	-	2	0	SLC5A12	26675293	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.627000	0.98412	2.763000	0.94921	0.650000	0.86243	ACT		0.438	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		A	26718717	G	A	26718717	3	1	183	1	0	0	0	0	1	0	0	0	14664	1029	36	3	854	3	SLC5A12	11	26718717	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	21650505	26718717	108287799	49	12971											
PYGM	5837	broad.mit.edu	37	chr11	64521011	64521011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtcttcttgaggatctcGgagtggatgcgcgccacgcc	6	10	14	11	4	3	1	0	1	3	0	4	4	3	4	2	4	1	0	2	4	0	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:64521011G>A	ENST00000164139.3	-	11	1781	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.S373S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	461					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGGATCTCGGAGTGGATGC	0.652																																						uc001oax.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1381-1383)tcC>tcT		Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	Pyridoxal Phosphate(DB00114)						52	29	37					11																	64521011		2196	4295	6491	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521011G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1383C>T	11.37:g.64521011G>A						PYGM_uc001oay.4_Silent_p.S373S	p.S461S	NM_005609	NP_005600	P11217	PYGM_HUMAN			10	2200	-			461					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1383C>T	CCDS8079.1																																																																																				0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		A	64521011	G	A	64521011	2	1	183	1	0	0	0	0	0	0	0	1	12862	1103	39	2		2	PYGM	11	64521011	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	37802294	64521011	70485505	50	12972											
GPR83	10888	broad.mit.edu	37	chr11	94113625	94113625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagagggcattgttggtgCggatgaccttgctggacagg	8	10	17	6	1	0	2	0	1	0	1	0	4	0	4	1	5	2	4	1	5	1	4	rs145628763	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:94113625C>T	ENST00000243673.2	-	4	1133	c.962G>A	c.(961-963)cGc>cAc	p.R321H	GPR83_ENST00000539203.2_Missense_Mutation_p.R279H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	321					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGTTGGTGCGGATGACCTT	0.517													C|||	2	0.000399361	0	0	5008	,	,		21668	0.001		0	False		,,,				2504	0.001					uc001pet.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(961-963)cGc>cAc		Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.							156	124	135					11																	94113625		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113625C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.962G>A	11.37:g.94113625C>T	ENSP00000243673:p.Arg321His						p.R321H	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			3	1134	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	321					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.962G>A	CCDS8297.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.42	1.632573	0.29068	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.55930	0.49;0.49	5.75	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.577740	0.21375	N	0.075569	T	0.27098	0.0664	N	0.13198	0.31	0.34738	D	0.730436	B	0.02656	0.0	B	0.06405	0.002	T	0.09952	-1.0651	10	0.22706	T	0.39	.	8.1338	0.31043	0.0:0.6896:0.1009:0.2095	.	321	Q9NYM4	GPR83_HUMAN	H	321;279	ENSP00000243673:R321H;ENSP00000441550:R279H	ENSP00000243673:R321H	R	-	2	0	GPR83	93753273	0.613000	0.27009	0.936000	0.37596	0.997000	0.91878	-0.078000	0.11375	-0.929000	0.03757	0.655000	0.94253	CGC		0.517	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		T	94113625	C	T	94113625	3	4	183	1	0	0	0	0	1	0	0	0	6713	768	27	1	313	1	GPR83	11	94113625	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	29592614	94113625	40892891	51	12973											
KIAA1377	57562	broad.mit.edu	37	chr11	101793446	101793446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaacaaaaaatatgtcGaaatcgagcacgtaaatatt	19	8	7	7	3	0	0	0	0	0	0	2	2	0	0	0	0	3	4	0	0	9	4	rs142032267	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:101793446G>A	ENST00000263468.8	+	2	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68								p.R68L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303																																						uc001pgm.3																			1	Substitution - Missense(1)	p.R68L(2)|p.R68*(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(202-204)cGa>cAa		Homo sapiens KIAA1377 (KIAA1377), mRNA.		G	GLN/ARG	0,4406		0,0,2203	67	70	69		203	5.8	1	11	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIAA1377	NM_020802.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	68/1118	101793446	1,13003	2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101793446G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.203G>A	11.37:g.101793446G>A	ENSP00000263468:p.Arg68Gln					KIAA1377_uc001pgn.3_Missense_Mutation_p.R24Q	p.R68Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	1	473	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	68					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.203G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945729	0.92593	0.0	1.16E-4	ENSG00000110318	ENST00000263468	T	0.12361	2.69	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000056	T	0.38241	0.1033	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03728	-1.1009	10	0.87932	D	0	-11.1498	17.6233	0.88088	0.0:0.0:1.0:0.0	.	68	Q9P2H0	K1377_HUMAN	Q	68	ENSP00000263468:R68Q	ENSP00000263468:R68Q	R	+	2	0	KIAA1377	101298656	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.645000	0.67909	2.758000	0.94735	0.591000	0.81541	CGA		0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		A	101793446	G	A	101793446	3	1	183	1	0	0	0	0	1	0	0	0	8227	1058	37	2	209	2	KIAA1377	11	101793446	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7679821	101793446	33213070	52	12974											
GRIN2B	2904	broad.mit.edu	37	chr12	13716353	13716353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggtggaggcgtttgaCgtcaccgccactggggcagc	6	9	16	10	3	1	1	1	1	0	0	1	2	1	2	2	5	1	2	2	5	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:13716353C>T	ENST00000609686.1	-	13	4028	c.3819G>A	c.(3817-3819)acG>acA	p.T1273T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1273					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGCGTTTGACGTCACCGCCA	0.582																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3817-3819)acG>acA		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						65	72	70					12																	13716353		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716353C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3819G>A	12.37:g.13716353C>T							p.T1273T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	3998	-			1273					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3819G>A	CCDS8662.1																																																																																				0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13716353	C	T	13716353	2	4	183	1	0	0	0	0	0	0	0	1	6780	523	19	1		1	GRIN2B	12	13716353	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		13716353	120135542	53	12975											
EPYC	1833	broad.mit.edu	37	chr12	91363838	91363838	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctggaggtgaagggctcGtagattttctgggagtggca	8	11	16	6	1	1	2	0	1	1	1	2	4	1	4	1	5	1	3	1	5	3	4	rs374036301		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:91363838G>A	ENST00000261172.3	-	6	873	c.781C>T	c.(781-783)Cga>Tga	p.R261*		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	261					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.R261G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGAAGGGCTCGTAGATTTTCT	0.478																																						uc001tbk.3																			1	Substitution - Missense(1)	p.R261G(2)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(781-783)Cga>Tga		Homo sapiens epiphycan (EPYC), mRNA.		G	stop/ARG	0,4406		0,0,2203	210	212	211		781	3.4	0	12		211	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	EPYC	NM_004950.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		261/323	91363838	1,13005	2203	4300	6503	SO:0001587	stop_gained	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91363838G>A	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.781C>T	12.37:g.91363838G>A	ENSP00000261172:p.Arg261*						p.R261*	NM_004950	NP_004941	Q99645	EPYC_HUMAN			5	874	-			261					A8K3M7|Q8NEJ5	Nonsense_Mutation	SNP	ENST00000261172.3	37	c.781C>T	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413611	0.62511	0.0	1.16E-4	ENSG00000083782	ENST00000261172	.	.	.	5.33	3.44	0.39384	.	0.279542	0.37053	N	0.002274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3393	0.66614	0.0:0.0:0.7301:0.2699	.	.	.	.	X	261	.	ENSP00000261172:R261X	R	-	1	2	EPYC	89887969	0.690000	0.27699	0.007000	0.13788	0.271000	0.26615	3.984000	0.56923	0.582000	0.29556	0.467000	0.42956	CGA		0.478	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		A	91363838	G	A	91363838	4	1	183	1	0	0	0	0	0	1	0	0	5201	1153	40	1	195	1	EPYC	12	91363838	Nonsense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	77647485	91363838	42488057	54	12976											
DAO	1610	broad.mit.edu	37	chr12	109293186	109293186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaacgaactggcttcCggccagtacgcccccagatt	8	9	11	13	3	0	2	0	1	0	1	1	3	1	2	4	3	3	2	4	3	3	4	rs140015394		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:109293186C>T	ENST00000228476.3	+	10	1051	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	DAO_ENST00000551281.1_Missense_Mutation_p.R217W	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	283					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AACTGGCTTCCGGCCAGTACG	0.458																																						uc001tnr.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(847-849)Cgg>Tgg		Homo sapiens D-amino-acid oxidase (DAO), mRNA.		A	TRP/ARG	0,4406		0,0,2203	38	33	35		847	2.3	1	12	dbSNP_134	35	1,8599		0,1,4299	no	missense	DAO	NM_001917.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	283/348	109293186	1,13005	2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109293186C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.847C>T	12.37:g.109293186C>T	ENSP00000228476:p.Arg283Trp					DAO_uc001tnq.4_Missense_Mutation_p.R217W|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	p.R283W	NM_001917	NP_001908	P14920	OXDA_HUMAN			9	1518	+			283					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.847C>T	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	a	18.24	3.579899	0.65992	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	D;D;D	0.93811	-3.29;-3.29;-3.29	5.14	2.29	0.28610	FAD dependent oxidoreductase (1);	0.047393	0.85682	D	0.000000	D	0.97192	0.9082	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95062	0.8196	10	0.87932	D	0	-33.3483	6.6441	0.22925	0.4576:0.4592:0.0:0.0832	.	283;266	P14920;Q7Z312	OXDA_HUMAN;.	W	217;283;160	ENSP00000446853:R217W;ENSP00000228476:R283W;ENSP00000449967:R160W	ENSP00000228476:R283W	R	+	1	2	DAO	107817315	0.945000	0.32115	0.970000	0.41538	0.004000	0.04260	0.933000	0.28897	0.196000	0.20367	-1.260000	0.01463	CGG		0.458	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			T	109293186	C	T	109293186	3	4	183	1	0	0	0	0	1	0	0	0	4231	643	23	2	881	2	DAO	12	109293186	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	17929348	109293186	24558709	55	12977											
RPGRIP1	57096	broad.mit.edu	37	chr14	21793505	21793505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcccaggtctacctgtcaaCcgatgtgcttggaggccgga	8	8	13	12	2	2	0	1	0	1	0	2	3	2	2	4	4	4	1	4	4	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr14:21793505C>A	ENST00000400017.2	+	15	2330	c.2330C>A	c.(2329-2331)aCc>aAc	p.T777N	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.T136N|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.T739N|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.T777N|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	777					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TACCTGTCAACCGATGTGCTT	0.542																																						uc001wag.3																			0		p.S777P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2329-2331)aCc>aAc		Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.							31	32	31					14																	21793505		1878	4110	5988	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21793505C>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2330C>A	14.37:g.21793505C>A	ENSP00000382895:p.Thr777Asn					RPGRIP1_uc001wah.3_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.3_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.3_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.3_Missense_Mutation_p.T94N	p.T777N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	2330	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	777					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2330C>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138962	0.37728	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	T;T;T;T;T	0.78816	-0.89;-0.92;-0.92;-1.21;-1.21	5.08	3.23	0.37069	.	0.660669	0.15089	N	0.281177	T	0.67951	0.2948	N	0.19112	0.55	0.23036	N	0.998394	P;P;P;P;P	0.42692	0.61;0.787;0.61;0.61;0.627	B;P;B;B;B	0.46585	0.346;0.521;0.346;0.346;0.133	T	0.58956	-0.7544	10	0.66056	D	0.02	-0.1738	7.2665	0.26232	0.1692:0.7399:0.0:0.0909	.	160;136;252;393;777	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	N	739;777;777;252;136	ENSP00000451219:T739N;ENSP00000382895:T777N;ENSP00000206660:T777N;ENSP00000451262:T252N;ENSP00000309721:T136N	ENSP00000206660:T777N	T	+	2	0	RPGRIP1	20863345	0.001000	0.12720	0.877000	0.34402	0.902000	0.53008	0.991000	0.29654	0.694000	0.31654	0.655000	0.94253	ACC		0.542	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21793505	C	A	21793505	3	1	183	1	0	0	0	0	1	0	0	0	13549	507	18	5	2388	5	RPGRIP1	14	21793505	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		21793505	85556035	56	12978											
LOXL1	4016	broad.mit.edu	37	chr15	74238821	74238821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcgcttcccccagcgCgtgaagaaccagggcacagc	9	5	11	16	3	0	2	0	1	0	1	1	2	1	2	3	1	5	2	3	1	3	2	rs368632424		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:74238821C>T	ENST00000261921.7	+	3	1601	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	425	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCCCAGCGCGTGAAGAACC	0.692																																						uc002awc.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1273-1275)cgC>cgT		Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.		C		0,4396		0,0,2198	42	32	35		1275	-8.4	0.2	15		35	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	LOXL1	NM_005576.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		425/575	74238821	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74238821C>T	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1275C>T	15.37:g.74238821C>T							p.R425R	NM_005576	NP_005567	Q08397	LOXL1_HUMAN			2	1611	+			425			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	c.1275C>T	CCDS10253.1																																																																																				0.692	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		T	74238821	C	T	74238821	2	4	183	1	0	0	0	0	0	0	0	1	8899	755	27	1		1	LOXL1	15	74238821	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		74238821	28292571	57	12979											
USP6	9098	broad.mit.edu	37	chr17	5050405	5050405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggataaccaaaaagtaCaactctcagtgagcggattt	15	9	8	9	1	2	1	2	1	1	0	3	3	2	3	1	2	4	1	1	2	5	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:5050405C>T	ENST00000574788.1	+	29	4577	c.2347C>T	c.(2347-2349)Caa>Taa	p.Q783*	USP6_ENST00000250066.6_Nonsense_Mutation_p.Q783*|USP6_ENST00000304328.5_Nonsense_Mutation_p.Q466*|USP6_ENST00000332776.4_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	783	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAAAAAGTACAACTCTCAGT	0.383			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(2347-2349)Caa>Taa		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							164	149	154					17																	5050405		2203	4300	6503	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5050405C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2347C>T	17.37:g.5050405C>T	ENSP00000460380:p.Gln783*					USP6_uc002gav.1_Nonsense_Mutation_p.Q783*|USP6_uc010ckz.1_Nonsense_Mutation_p.Q466*	p.Q783*	NM_004505	NP_004496	P35125	UBP6_HUMAN			28	4577	+			783					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.2347C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	50	16.875483	0.99874	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.5	2.5	0.30297	.	0.171732	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.7323	0.46104	0.0:1.0:0.0:0.0	.	.	.	.	X	783;466	.	ENSP00000250066:Q783X	Q	+	1	0	USP6	4991129	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	4.538000	0.60650	1.389000	0.46526	0.184000	0.17185	CAA		0.383	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		T	5050405	C	T	5050405	4	4	183	1	0	0	0	0	0	1	0	0	17083	479	17	3	2425	3	USP6	17	5050405	Nonsense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		5050405	76144805	58	12980											
MYO1D	4642	broad.mit.edu	37	chr17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtacttactggcttccGttttaccagctccactttcc	7	16	5	13	1	0	0	0	0	0	0	3	0	3	0	4	1	4	4	4	1	4	7			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:31105570G>A	ENST00000318217.5	-	3	630	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_ENST00000579584.1_Missense_Mutation_p.T109M|MYO1D_ENST00000394649.4_Missense_Mutation_p.T21M|MYO1D_ENST00000583621.1_Missense_Mutation_p.T109M	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	109	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(325-327)aCg>aTg		Homo sapiens myosin ID (MYO1D), mRNA.							147	129	135					17																	31105570		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31105570G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.326C>T	17.37:g.31105570G>A	ENSP00000324527:p.Thr109Met					MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		2	338	-			109			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.326C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879761	0.91740	.	.	ENSG00000176658	ENST00000318217	D	0.83837	-1.77	5.2	5.2	0.72013	Myosin head, motor domain (3);	0.000000	0.40640	U	0.001050	D	0.95182	0.8438	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96781	0.9575	10	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	20;109	Q7Z3N6;O94832	.;MYO1D_HUMAN	M	109	ENSP00000324527:T109M	ENSP00000324527:T109M	T	-	2	0	MYO1D	28129683	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.596000	0.98267	2.861000	0.98227	0.655000	0.94253	ACG		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			A	31105570	G	A	31105570	3	1	183	1	0	0	0	0	1	0	0	0	10071	1145	40	1	2774	1	MYO1D	17	31105570	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	26055165	31105570	50089640	59	12981											
MYO19	80179	broad.mit.edu	37	chr17	34856982	34856982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcagccgagtcaccaGttatggctgctgcctgagtt	6	11	12	12	1	2	1	2	1	0	0	2	2	2	1	4	2	3	4	4	2	1	2	rs368587558		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:34856982G>A	ENST00000431794.3	-	22	2696	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	MYO19_ENST00000268852.9_Missense_Mutation_p.T525I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	725	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGAGTCACCAGTTATGGCTGC	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		21346	0		0	False		,,,				2504	0					uc010wcy.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2173-2175)aCt>aTt		Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.		G	ILE/THR,ILE/THR	4,4262		0,4,2129	94	100	98		2174,1574	-0.4	0	17		98	0,8474		0,0,4237	no	missense,missense	MYO19	NM_001163735.1,NM_025109.5	89,89	0,4,6366	AA,AG,GG		0.0,0.0938,0.0314	benign,benign	725/971,525/771	34856982	4,12736	2133	4237	6370	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856982G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2174C>T	17.37:g.34856982G>A	ENSP00000409936:p.Thr725Ile					MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.T525I	p.T725I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	3166	-		Breast(25;0.00957)|Ovarian(249;0.17)	725					Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2174C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310070	0.23821	9.38E-4	0.0	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.63913	-0.07;-0.07	4.47	-0.417	0.12347	Myosin head, motor domain (1);	1.312750	0.05649	N	0.584926	T	0.37679	0.1012	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.09377	0.004;0.004	T	0.30327	-0.9982	10	0.87932	D	0	.	1.7544	0.02979	0.2036:0.1597:0.474:0.1627	.	725;525	Q96H55;Q96H55-4	MYO19_HUMAN;.	I	725;525	ENSP00000409936:T725I;ENSP00000268852:T525I	ENSP00000268852:T525I	T	-	2	0	MYO19	31931095	0.001000	0.12720	0.000000	0.03702	0.129000	0.20672	0.349000	0.20055	0.032000	0.15435	0.462000	0.41574	ACT		0.577	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		A	34856982	G	A	34856982	3	1	183	1	0	0	0	0	1	0	0	0	10067	1029	36	3	758	3	MYO19	17	34856982	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	3751412	34856982	46338228	60	12982											
TANC2	26115	broad.mit.edu	37	chr17	61428697	61428697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccggattatggggatacaAttgtatcgtttctgagtaaa	13	13	10	5	2	1	1	0	1	1	0	2	3	1	3	1	3	2	3	1	3	7	6	rs372829353		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:61428697A>G	ENST00000424789.2	+	11	1676	c.1672A>G	c.(1672-1674)Att>Gtt	p.I558V	TANC2_ENST00000389520.4_Missense_Mutation_p.I558V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	558					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGGGATACAATTGTATCGTT	0.338																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1672-1674)Att>Gtt		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.		A	VAL/ILE	1,3637		0,1,1818	103	105	105		1672	5.6	1	17		105	0,8158		0,0,4079	no	missense	TANC2	NM_025185.3	29	0,1,5897	GG,GA,AA		0.0,0.0275,0.0085	benign	558/1991	61428697	1,11795	1819	4079	5898	SO:0001583	missense	26115						binding	g.chr17:61428697A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1672A>G	17.37:g.61428697A>G	ENSP00000387593:p.Ile558Val					TANC2_uc010wpe.2_Missense_Mutation_p.I468V	p.I558V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			10	1695	+			558					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1672A>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495714	0.44352	2.75E-4	0.0	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.19938	2.11;2.11	5.61	5.61	0.85477	.	0.051861	0.85682	D	0.000000	T	0.20047	0.0482	L	0.52126	1.63	0.51233	D	0.999919	B;B	0.30914	0.3;0.07	B;B	0.31390	0.129;0.036	T	0.04128	-1.0975	10	0.31617	T	0.26	.	10.2041	0.43103	0.9261:0.0:0.0739:0.0	.	558;558	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	V	558	ENSP00000374171:I558V;ENSP00000387593:I558V	ENSP00000374171:I558V	I	+	1	0	TANC2	58782429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.546000	0.60705	2.136000	0.66102	0.455000	0.32223	ATT		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			G	61428697	A	G	61428697	3	3	183	1	0	0	0	0	1	0	0	0	15542	101	4	4	1714	4	TANC2	17	61428697	Missense_Mutation	SNP	A	TCGA-27-1831-01A-01D-1494-08	26571715	61428697	19766513	61	12983											
PTPRM	5797	broad.mit.edu	37	chr18	7888125	7888125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctttcatgctggtgaatgCctctgggagacctgaggggc	6	12	14	9	0	3	3	1	2	2	1	3	4	3	3	2	4	2	1	2	4	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr18:7888125C>A	ENST00000332175.8	+	3	1255	c.218C>A	c.(217-219)gCc>gAc	p.A73D	PTPRM_ENST00000400053.4_Missense_Mutation_p.A11D|PTPRM_ENST00000400060.4_Missense_Mutation_p.A73D|PTPRM_ENST00000580170.1_Missense_Mutation_p.A73D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	73	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGTGAATGCCTCTGGGAGA	0.453																																						uc002knn.4																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(217-219)gCc>gAc		Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.							187	196	193					18																	7888125		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888125C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.218C>A	18.37:g.7888125C>A	ENSP00000331418:p.Ala73Asp					PTPRM_uc010dkv.3_Missense_Mutation_p.A73D	p.A73D	NM_002845	NP_002836	P28827	PTPRM_HUMAN			2	721	+		Colorectal(10;0.234)	73			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.218C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600205	0.66332	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02369	4.32;4.32;4.32	5.73	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.217310	0.47093	D	0.000252	T	0.06554	0.0168	L	0.58810	1.83	0.80722	D	1	B;B	0.28026	0.198;0.198	B;B	0.34138	0.176;0.176	T	0.12811	-1.0533	10	0.87932	D	0	.	16.5728	0.84629	0.0:0.8694:0.1306:0.0	.	73;73	A7MBN1;P28827	.;PTPRM_HUMAN	D	73;73;11	ENSP00000331418:A73D;ENSP00000382933:A73D;ENSP00000382927:A11D	ENSP00000331418:A73D	A	+	2	0	PTPRM	7878125	0.931000	0.31567	0.890000	0.34922	0.979000	0.70002	6.133000	0.71682	1.391000	0.46566	0.655000	0.94253	GCC		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	7888125	C	A	7888125	3	1	183	1	0	0	0	0	1	0	0	0	12806	739	26	5	228	5	PTPRM	18	7888125	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		7888125	70189123	62	12984											
MUC16	94025	broad.mit.edu	37	chr19	9087832	9087832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtatccttaggatccGtagtggtgatgtaggtggtg	8	14	14	5	1	0	1	0	1	0	0	2	2	2	2	2	4	1	3	2	4	5	5			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:9087832G>A	ENST00000397910.4	-	1	4186	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTAGGATCCGTAGTGGTGAT	0.527																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3982-3984)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							146	146	146					19																	9087832		2155	4261	6416	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087832G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3983C>T	19.37:g.9087832G>A	ENSP00000381008:p.Thr1328Met						p.T1328M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	4187	-			1328			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3983C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.134	-0.177769	0.06380	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.48	-1.62	0.08372	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	D	0.63880	0.993	B	0.41860	0.368	T	0.47971	-0.9075	8	0.87932	D	0	.	4.5325	0.12011	0.4408:0.0:0.5592:0.0	.	1328	B5ME49	.	M	1328	ENSP00000381008:T1328M	ENSP00000381008:T1328M	T	-	2	0	MUC16	8948832	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-1.028000	0.03589	-0.343000	0.08351	0.305000	0.20034	ACG		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9087832	G	A	9087832	3	1	183	1	0	0	0	0	1	0	0	0	9973	1145	40	1	39876	1	MUC16	19	9087832	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		9087832	50041151	63	12985											
RAB3D	9545	broad.mit.edu	37	chr19	11448018	11448018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcagtttgaacatatagtCgaagttctgatctgctgcat	11	14	9	7	1	2	2	0	2	2	0	3	3	2	2	0	0	4	5	0	0	5	5	rs144965675		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:11448018C>T	ENST00000222120.3	-	2	318	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RAB3D_ENST00000589655.1_Missense_Mutation_p.D20N	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	20					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AACATATAGTCGAAGTTCTGA	0.557																																						uc002mqx.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(58-60)Gac>Aac		Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.							259	207	225					19																	11448018		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11448018C>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.58G>A	19.37:g.11448018C>T	ENSP00000222120:p.Asp20Asn						p.D20N	NM_004283	NP_004274	O95716	RAB3D_HUMAN			1	319	-			20						Missense_Mutation	SNP	ENST00000222120.3	37	c.58G>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189941	0.94923	.	.	ENSG00000105514	ENST00000222120	T	0.80304	-1.36	4.36	4.36	0.52297	.	0.045304	0.85682	D	0.000000	D	0.84042	0.5385	L	0.38692	1.165	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	D	0.86258	0.1653	10	0.87932	D	0	.	16.1598	0.81693	0.0:1.0:0.0:0.0	.	20	O95716	RAB3D_HUMAN	N	20	ENSP00000222120:D20N	ENSP00000222120:D20N	D	-	1	0	RAB3D	11309018	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.590000	0.82653	2.423000	0.82170	0.591000	0.81541	GAC		0.557	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		T	11448018	C	T	11448018	3	4	183	1	0	0	0	0	1	0	0	0	12934	884	31	2	617	2	RAB3D	19	11448018	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	2360186	11448018	47680965	64	12986											
OR10H2	26538	broad.mit.edu	37	chr19	15839588	15839589	+	Frame_Shift_Ins	INS	-	-	CTTATTGTGG																															tctccacctgtgcctctcacINScttattgtggtcattgtgca																										TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:15839588_15839589insCTTATTGTGG	ENST00000305899.3	+	1	755_756	c.735_736insCTTATTGTGG	c.(736-738)cttfs	p.-246fs		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGCCTCTCACCTTATTGTGGT	0.54																																						uc002nbm.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(733-738)caccttfs		Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.																																				SO:0001589	frameshift_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839588_15839589insCTTATTGTGG	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.736_745dupCTTATTGTGG	19.37:g.15839589_15839598dupCTTATTGTGG	ENSP00000306095:p.Leu246fs						p.H245fs	NM_013939	NP_039227	O60403	O10H2_HUMAN			0	755_756	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		245					Q6IFQ1|Q96R58	Frame_Shift_Ins	INS	ENST00000305899.3	37	c.735_736insCTTATTGTGG	CCDS12333.1																																																																																				0.54	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			CTTATTGTGG	15839589	-	CTTATTGTGG	15839588	7	5	183	1	0	1	1	0	0	0	0	0	10906	506	18	0	737	0	OR10H2	19	15839588	Frame_Shift_Ins	INS	-	TCGA-27-1831-01A-01D-1494-08	4391570	15839588	43289395	65	12987											
ZNF91	7644	broad.mit.edu	37	chr19	23543307	23543307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattctttacatttgtagGgtttctctccagtatgaatt	9	18	6	8	0	2	1	0	1	2	0	4	1	3	1	1	1	1	3	1	1	4	8	rs547841465	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:23543307G>C	ENST00000300619.7	-	4	2679	c.2474C>G	c.(2473-2475)cCc>cGc	p.P825R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793R|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403																																						uc002nre.3																			0											c.(2473-2475)cCc>cGc		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							61	64	63					19																	23543307		2161	4274	6435	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543307G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2474C>G	19.37:g.23543307G>C	ENSP00000300619:p.Pro825Arg					ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P793R	p.P825R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	2587	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	825					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2474C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580917	0.46006	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17213	2.29;2.29	1.53	1.53	0.23141	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34571	0.0902	M	0.64404	1.975	0.36831	D	0.886892	D;D	0.76494	0.999;0.967	D;P	0.76071	0.987;0.847	T	0.39121	-0.9629	9	0.87932	D	0	.	9.9652	0.41721	0.0:0.0:1.0:0.0	.	793;825	Q05481-2;Q05481	.;ZNF91_HUMAN	R	825;793	ENSP00000300619:P825R;ENSP00000380272:P793R	ENSP00000300619:P825R	P	-	2	0	ZNF91	23335147	0.829000	0.29322	0.057000	0.19452	0.095000	0.18619	2.924000	0.48876	0.811000	0.34303	0.205000	0.17691	CCC		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		C	23543307	G	C	23543307	3	2	183	1	0	0	0	0	1	0	0	0	18197	1232	43	5	1105	5	ZNF91	19	23543307	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7703719	23543307	35585676	66	12988											
C5AR1	728	broad.mit.edu	37	chr19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacactttcatcctgctcCggacgtggagccgcagggcc	6	9	12	14	3	1	0	1	0	0	0	3	2	3	2	4	3	3	3	4	3	1	2	rs146163744		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:47823716C>T	ENST00000355085.3	+	2	704	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	228					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.R228R(1)|p.R228W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612																																						uc002pgj.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R228R(2)|p.R228W(2)	large_intestine(1)|lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(682-684)Cgg>Tgg		Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.		C	TRP/ARG	0,4406		0,0,2203	90	91	90		682	3.8	0.5	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5AR1	NM_001736.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	228/351	47823716	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823716C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.682C>T	19.37:g.47823716C>T	ENSP00000347197:p.Arg228Trp						p.R228W	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	1	731	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	228						Missense_Mutation	SNP	ENST00000355085.3	37	c.682C>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	c	18.81	3.703137	0.68501	0.0	1.16E-4	ENSG00000197405	ENST00000355085	T	0.38240	1.15	4.96	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.300687	0.28958	U	0.013589	T	0.51109	0.1655	M	0.93150	3.385	0.31226	N	0.696887	P	0.49862	0.929	B	0.44044	0.439	T	0.69577	-0.5108	10	0.87932	D	0	.	11.323	0.49433	0.1818:0.8182:0.0:0.0	.	228	P21730	C5AR_HUMAN	W	228	ENSP00000347197:R228W	ENSP00000347197:R228W	R	+	1	2	C5AR1	52515556	0.000000	0.05858	0.522000	0.27862	0.827000	0.46813	0.307000	0.19296	2.280000	0.76307	0.472000	0.43445	CGG		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		T	47823716	C	T	47823716	3	4	183	1	0	0	0	0	1	0	0	0	2281	643	23	2	687	2	C5AR1	19	47823716	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	24280409	47823716	11305267	67	12989											
SSTR4	6754	broad.mit.edu	37	chr20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgctgaacctcttcGtgaccagccttgatgccacc	7	10	9	15	1	1	3	0	3	1	0	2	3	1	3	5	0	6	3	5	0	1	2	rs368872232		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			1	Substitution - Missense(1)	p.V285M(2)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(853-855)Gtg>Atg		Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.							195	203	200					20																	23016973		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016973G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.853G>A	20.37:g.23016973G>A	ENSP00000255008:p.Val285Met						p.V285M	NM_001052	NP_001043	P31391	SSR4_HUMAN			0	917	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		285					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.853G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	2.403	-0.337113	0.05278	.	.	ENSG00000132671	ENST00000255008	T	0.72167	-0.63	3.36	-0.825	0.10809	GPCR, rhodopsin-like superfamily (1);	0.372260	0.21521	U	0.073207	T	0.48786	0.1519	N	0.25789	0.76	0.18873	N	0.999988	B	0.27498	0.18	B	0.26202	0.067	T	0.27938	-1.0059	10	0.34782	T	0.22	.	4.4573	0.11649	0.4609:0.2801:0.259:0.0	.	285	P31391	SSR4_HUMAN	M	285	ENSP00000255008:V285M	ENSP00000255008:V285M	V	+	1	0	SSTR4	22964973	0.893000	0.30496	0.193000	0.23327	0.330000	0.28571	-0.061000	0.11693	-0.109000	0.12044	-0.119000	0.15052	GTG		0.552	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			A	23016973	G	A	23016973	3	1	183	1	0	0	0	0	1	0	0	0	15199	1145	40	1	855	1	SSTR4	20	23016973	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		23016973	40008547	68	12990											
CLDN14	23562	broad.mit.edu	37	chr21	37833888	37833888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggatgttggtgcccaCgtgcgctgtcctccgccagt	4	10	14	13	4	0	1	0	1	0	0	2	2	2	2	4	2	2	2	4	2	0	1	rs142205038		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr21:37833888C>T	ENST00000399137.1	-	3	972	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CLDN14_ENST00000399139.1_Missense_Mutation_p.V36M|CLDN14_ENST00000399135.1_Missense_Mutation_p.V36M|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.V36M|CLDN14_ENST00000342108.2_Missense_Mutation_p.V36M|AP000695.4_ENST00000428667.1_RNA|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	36					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TTGGTGCCCACGTGCGCTGTC	0.622																																						uc021wja.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(106-108)Gtg>Atg		Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	40	28	32		106,106,106,106,106	3.7	1	21	dbSNP_134	32	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	21,21,21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	36/240,36/240,36/240,36/240,36/240	37833888	1,13005	2203	4300	6503	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833888C>T	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.106G>A	21.37:g.37833888C>T	ENSP00000382090:p.Val36Met					CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvk.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M	p.V36M	NM_144492	NP_652763	O95500	CLD14_HUMAN			0	106	-			36						Missense_Mutation	SNP	ENST00000399137.1	37	c.106G>A	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012458	0.35511	0.0	1.16E-4	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.54	3.7	0.42460	.	0.079672	0.48767	D	0.000169	D	0.92987	0.7768	M	0.76433	2.335	0.42950	D	0.994375	D	0.89917	1.0	D	0.72625	0.978	D	0.93200	0.6591	10	0.72032	D	0.01	.	10.8384	0.46700	0.1296:0.8019:0.0:0.0685	.	36	O95500	CLD14_HUMAN	M	36	ENSP00000382092:V36M;ENSP00000382090:V36M;ENSP00000382087:V36M;ENSP00000382088:V36M;ENSP00000339292:V36M	ENSP00000339292:V36M	V	-	1	0	CLDN14	36755758	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	2.518000	0.45537	1.305000	0.44909	-0.182000	0.12963	GTG		0.622	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		T	37833888	C	T	37833888	3	4	183	1	0	0	0	0	1	0	0	0	3475	536	19	1	617	1	CLDN14	21	37833888	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		37833888	10296007	69	12991											
IL3RA	3563	broad.mit.edu	37	chrX	1484071	1484071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctactcaatcctggaaCgtacacagtacaaataagag	16	7	7	11	1	1	1	1	0	0	1	2	2	2	2	2	1	5	3	2	1	7	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:1484071C>T	ENST00000331035.4	+	9	1149	c.800C>T	c.(799-801)aCg>aTg	p.T267M	IL3RA_ENST00000381469.2_Missense_Mutation_p.T189M	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	267					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATCCTGGAACGTACACAGTA	0.542																																						uc004cps.3																			0				lung(1)|skin(2)	3						c.(799-801)aCg>aTg		Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	Sargramostim(DB00020)	C	MET/THR	0,4400		0,0,2200	89	101	97		800	-0.7	0	X		97	1,8583		0,1,4291	yes	missense	IL3RA	NM_002183.2	81	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign	267/379	1484071	1,12983	2200	4292	6492	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484071C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.800C>T	X.37:g.1484071C>T	ENSP00000327890:p.Thr267Met					CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.T189M	p.T267M	NM_002183	NP_002174	P26951	IL3RA_HUMAN			8	1149	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	267					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.800C>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.271554	0.23221	0.0	1.16E-4	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.96041	-2.14;-3.89	0.355	-0.71	0.11234	Fibronectin, type III (1);Immunoglobulin-like fold (1);	13.343100	0.02288	U	0.070029	D	0.94450	0.8214	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.997;0.999	P;P	0.59487	0.858;0.801	D	0.84662	0.0707	9	0.56958	D	0.05	-8.7709	.	.	.	.	188;267	P26951-2;P26951	.;IL3RA_HUMAN	M	267;189	ENSP00000327890:T267M;ENSP00000370878:T189M	ENSP00000327890:T267M	T	+	2	0	IL3RA	1444071	0.000000	0.05858	0.006000	0.13384	0.487000	0.33371	-1.029000	0.03585	-0.885000	0.03971	0.081000	0.15443	ACG		0.542	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			T	1484071	C	T	1484071	3	4	183	1	0	0	0	0	1	0	0	0	7695	536	19	1	830	1	IL3RA	23	1484071	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		1484071	153786489	70	12992											
STS	412	broad.mit.edu	37	chrX	7177573	7177573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccccctgcagatcgtcgGggtcaccctccttacccttg	4	10	8	19	2	1	1	1	0	0	1	5	1	3	1	6	2	2	1	6	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:7177573G>A	ENST00000217961.4	+	5	801	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	194					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CAGATCGTCGGGGTCACCCTC	0.567									Ichthyosis																													uc004cry.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(580-582)gGg>gAg		Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	Estrone(DB00655)						98	68	78					X																	7177573		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177573G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.581G>A	X.37:g.7177573G>A	ENSP00000217961:p.Gly194Glu						p.G194E	NM_000351	NP_000342	P08842	STS_HUMAN			4	826	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	194					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.581G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265501	0.40095	.	.	ENSG00000101846	ENST00000217961	D	0.93366	-3.21	3.84	0.75	0.18387	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.543954	0.17462	N	0.173407	D	0.92453	0.7604	L	0.40543	1.245	0.09310	N	1	D	0.59767	0.986	P	0.54372	0.75	D	0.86708	0.1934	10	0.62326	D	0.03	.	13.4115	0.60946	0.0:0.4817:0.5183:0.0	.	194	P08842	STS_HUMAN	E	194	ENSP00000217961:G194E	ENSP00000217961:G194E	G	+	2	0	STS	7187573	0.344000	0.24827	0.001000	0.08648	0.126000	0.20510	2.389000	0.44407	0.065000	0.16485	0.544000	0.68410	GGG		0.567	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		A	7177573	G	A	7177573	3	1	183	1	0	0	0	0	1	0	0	0	15331	1232	43	3	599	3	STS	23	7177573	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	5693502	7177573	148092987	71	12993											
SATL1	340562	broad.mit.edu	37	chrX	84349151	84349151	+	Frame_Shift_Del	DEL	A	A	-																															taccttggtaagcttgtgtgAcataaaagtcctctaggtaa																										TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:84349151delA	ENST00000395409.3	-	4	1858	c.1298delT	c.(1297-1299)gtcfs	p.V433fs	SATL1_ENST00000332921.5_Frame_Shift_Del_p.V433fs|SATL1_ENST00000509231.1_Frame_Shift_Del_p.V620fs			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	433	Acetyl-CoA binding. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCTTGTGTGACATAAAAGTC	0.338																																						uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1858-1860)gtcfs		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							105	89	95					X																	84349151		2203	4300	6503	SO:0001589	frameshift_variant	340562						N-acetyltransferase activity	g.chrX:84349151delA	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1298delT	X.37:g.84349151delA	ENSP00000378804:p.Val433fs						p.V620fs	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN			3	1859	-			433					A0AVK7|E9PB72|Q5H8V9	Frame_Shift_Del	DEL	ENST00000395409.3	37	c.1859delT																																																																																					0.338	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		-	84349151	A	-	84349151	7	5	183	1	0	1	0	1	0	0	0	0	13855	275	10	0	47	0	SATL1	23	84349151	Frame_Shift_Del	DEL	A	TCGA-27-1831-01A-01D-1494-08	77171578	84349151	70921409	72	12994											
RPE65	6121	broad.mit.edu	37	chr1	68904666	68904666	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatcagaaacccattgtcTtcataggtgttgatgtgatg	12	13	9	7	0	3	3	2	2	1	1	3	3	3	3	1	1	1	1	1	1	3	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:68904666T>A	ENST00000262340.5	-	9	1010	c.957A>T	c.(955-957)gaA>gaT	p.E319D		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	319					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACCCATTGTCTTCATAGGTGT	0.413																																						uc001dei.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(955-957)gaA>gaT		Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.							269	265	266					1																	68904666		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68904666T>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.957A>T	1.37:g.68904666T>A	ENSP00000262340:p.Glu319Asp						p.E319D	NM_000329	NP_000320	Q16518	RPE65_HUMAN			8	1011	-			319					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.957A>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543259	0.65198	.	.	ENSG00000116745	ENST00000262340	D	0.97016	-4.21	4.87	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	M	0.86268	2.805	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	D	0.96823	0.9605	10	0.72032	D	0.01	-1.338	8.3694	0.32406	0.0:0.1756:0.0:0.8244	.	319	Q16518	RPE65_HUMAN	D	319	ENSP00000262340:E319D	ENSP00000262340:E319D	E	-	3	2	RPE65	68677254	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	0.916000	0.28651	0.719000	0.32188	-0.263000	0.10527	GAA		0.413	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		A	68904666	T	A	68904666	3	1	184	1	0	0	0	0	1	0	0	0	13545	1606	56	5	668	5	RPE65	1	68904666	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08		68904666	180345955	1	12995											
SLC39A1	27173	broad.mit.edu	37	chr1	153933124	153933124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcccttgtttcctccAgaggtgacggccctgactgc	6	9	12	14	1	0	4	0	2	0	2	2	4	2	4	4	2	2	2	4	2	0	2			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:153933124A>G	ENST00000368623.3	-	3	1184	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L142P|CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L142P|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.L40P|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L142P			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	142					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGTTTCCTCCAGAGGTGACGG	0.607																																						uc001fdl.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(424-426)cTg>cCg		Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.							78	69	72					1																	153933124		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153933124A>G	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"Solute carriers"	12876	protein-coding gene	gene with protein product		604740	"zinc/iron regulated transporter-like"	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.425T>C	1.37:g.153933124A>G	ENSP00000357612:p.Leu142Pro					CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.3_Missense_Mutation_p.L142P|SLC39A1_uc010pee.2_Missense_Mutation_p.L40P	p.L142P	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	4	891	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		142					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.425T>C	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	A	4.890	0.165482	0.09339	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.3	2.31	0.28768	.	0.426335	0.20229	N	0.096530	T	0.04679	0.0127	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36744	-0.9735	10	0.30078	T	0.28	-2.9839	3.005	0.06026	0.1983:0.541:0.1626:0.0982	.	40;142	B4DDY7;Q9NY26	.;S39A1_HUMAN	P	142;142;142;142;40;131;142;142;142	ENSP00000348535:L142P;ENSP00000357612:L142P;ENSP00000357610:L142P;ENSP00000309710:L142P;ENSP00000443632:L40P;ENSP00000392950:L142P;ENSP00000392229:L142P;ENSP00000407717:L142P	ENSP00000309710:L142P	L	-	2	0	SLC39A1	152199748	0.537000	0.26386	0.380000	0.26093	0.559000	0.35586	0.748000	0.26305	0.325000	0.23359	0.460000	0.39030	CTG		0.607	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		G	153933124	A	G	153933124	3	3	184	1	0	0	0	0	1	0	0	0	14612	188	7	4	553	4	SLC39A1	1	153933124	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	85028458	153933124	95317497	2	12996											
NRXN1	9378	broad.mit.edu	37	chr2	50847197	50847197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagttgttactgactggtGaccctggaaggtcggctgtg	8	12	14	7	1	0	2	0	2	0	0	1	3	0	3	1	4	1	3	1	4	4	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:50847197G>A	ENST00000406316.2	-	8	2759	c.1283C>T	c.(1282-1284)tCa>tTa	p.S428L	NRXN1_ENST00000406859.3_Missense_Mutation_p.S428L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.S420L|NRXN1_ENST00000402717.3_Missense_Mutation_p.S420L|NRXN1_ENST00000404971.1_Missense_Mutation_p.S468L|NRXN1_ENST00000401669.2_Missense_Mutation_p.S428L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	428	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGACTGGTGACCCTGGAAG	0.463																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1282-1284)tCa>tTa		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							63	63	63					2																	50847197		1970	4178	6148	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50847197G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1283C>T	2.37:g.50847197G>A	ENSP00000384311:p.Ser428Leu					NRXN1_uc002rxb.4_Missense_Mutation_p.S100L|NRXN1_uc021vhg.1_Missense_Mutation_p.S468L|NRXN1_uc021vhi.1_Missense_Mutation_p.S464L|NRXN1_uc021vhj.1_Missense_Mutation_p.S424L|NRXN1_uc002rxc.1_Non-coding_Transcript	p.S428L	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2204	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	428			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1283C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935636	0.73442	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	L	0.35249	1.045	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.997;0.956;0.999	T	0.75107	-0.3434	10	0.13108	T	0.6	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	468;428;420	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	468;428;420;428;469;420;428	ENSP00000385142:S468L;ENSP00000384311:S428L;ENSP00000434015:S420L;ENSP00000385017:S428L;ENSP00000385434:S420L;ENSP00000385681:S428L	ENSP00000385017:S428L	S	-	2	0	NRXN1	50700701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	TCA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50847197	G	A	50847197	3	1	184	1	0	0	0	0	1	0	0	0	10665	1294	45	3	3567	3	NRXN1	2	50847197	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		50847197	192352176	3	12997											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870441	88870441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacttgtcctgtgtgtctgGcataagctggcattggggtc	5	14	13	9	0	1	0	0	0	1	0	3	0	2	0	1	4	2	3	1	4	2	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:88870441G>A	ENST00000303236.3	-	14	3237	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A828V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	979	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TGTGTGTCTGGCATAAGCTGG	0.488																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.4																			0				ovary(3)	3						c.(2935-2937)gCc>gTc		Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.							262	227	239					2																	88870441		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870441G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2936C>T	2.37:g.88870441G>A	ENSP00000307235:p.Ala979Val						p.A979V	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	3238	-			979			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2936C>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259441	0.95368	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.65732	-0.17;-0.17;-0.17	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052236	0.85682	D	0.000000	T	0.48750	0.1517	N	0.10685	0.025	0.80722	D	1	P	0.44521	0.837	P	0.44673	0.457	T	0.54892	-0.8225	10	0.48119	T	0.1	-19.7645	15.8343	0.78787	0.0:0.0:0.8637:0.1363	.	979	Q9NZJ5	E2AK3_HUMAN	V	828;979;828;858	ENSP00000408325:A828V;ENSP00000307235:A979V;ENSP00000412076:A858V	ENSP00000307235:A979V	A	-	2	0	EIF2AK3	88651556	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.599000	0.74127	2.800000	0.96347	0.455000	0.32223	GCC		0.488	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		A	88870441	G	A	88870441	3	1	184	1	0	0	0	0	1	0	0	0	4998	1203	42	3	430	3	EIF2AK3	2	88870441	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	38023244	88870441	154328932	4	12998											
COL5A2	1290	broad.mit.edu	37	chr2	189918184	189918184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaacagctccagttggcCcattttcacctcgagaaccc	11	8	6	16	1	1	1	1	0	0	1	3	2	2	1	5	1	4	2	5	1	3	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:189918184C>T	ENST00000374866.3	-	38	2793	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	840					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAGTTGGCCCATTTTCACC	0.343																																						uc002uqk.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2518-2520)gGg>gAg		Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.							55	57	57					2																	189918184		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918184C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2519G>A	2.37:g.189918184C>T	ENSP00000364000:p.Gly840Glu					COL5A2_uc010frx.3_Missense_Mutation_p.G416E	p.G840E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		37	2794	-			840					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2519G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142671	0.77888	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000040	D	0.99857	0.9933	H	0.99286	4.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.999;1.0	D	0.96597	0.9442	9	.	.	.	.	20.1951	0.98241	0.0:1.0:0.0:0.0	.	480;840	Q5PR22;P05997	.;CO5A2_HUMAN	E	840;480	ENSP00000364000:G840E	.	G	-	2	0	COL5A2	189626429	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.449000	0.80643	2.780000	0.95670	0.585000	0.79938	GGG		0.343	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		T	189918184	C	T	189918184	3	4	184	1	0	0	0	0	1	0	0	0	3697	623	22	3	2048	3	COL5A2	2	189918184	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	101047743	189918184	53281189	5	12999											
GLS	2744	broad.mit.edu	37	chr2	191769831	191769831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaactgaatatgtgcAtcgatatgttggaaaagagc	13	12	11	5	1	1	2	0	1	1	1	2	5	1	4	0	2	3	2	0	2	6	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:191769831A>T	ENST00000320717.3	+	6	1175	c.917A>T	c.(916-918)cAt>cTt	p.H306L	GLS_ENST00000338435.4_Missense_Mutation_p.H306L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	306					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GAATATGTGCATCGATATGTT	0.348																																						uc002usf.2																			0		p.V305A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(916-918)cAt>cTt		Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						139	137	138					2																	191769831		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191769831A>T	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.917A>T	2.37:g.191769831A>T	ENSP00000317379:p.His306Leu					GLS_uc002use.2_Missense_Mutation_p.H306L	p.H306L	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		5	1181	+			306					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.917A>T	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756662	0.89843	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57860	-0.7738	10	0.40728	T	0.16	-21.0904	16.3785	0.83418	1.0:0.0:0.0:0.0	.	306;306	O94925;O94925-3	GLSK_HUMAN;.	L	306	ENSP00000317379:H306L;ENSP00000340689:H306L	ENSP00000317379:H306L	H	+	2	0	GLS	191478076	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.323000	0.78572	0.529000	0.55759	CAT		0.348	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			T	191769831	A	T	191769831	3	4	184	1	0	0	0	0	1	0	0	0	6463	217	8	5	939	5	GLS	2	191769831	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	1851647	191769831	51429542	6	13000											
CPS1	1373	broad.mit.edu	37	chr2	211441119	211441119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaggacagattctcacaAtggccaaccctattattggg	14	9	8	10	0	1	1	1	0	1	1	2	2	1	2	2	3	1	0	2	3	5	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:211441119A>G	ENST00000233072.5	+	3	482	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	CPS1_ENST00000430249.2_Missense_Mutation_p.M102V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	96	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GATTCTCACAATGGCCAACCC	0.408																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(304-306)Atg>Gtg		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							187	170	176					2																	211441119		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211441119A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.286A>G	2.37:g.211441119A>G	ENSP00000233072:p.Met96Val					CPS1_uc002vee.4_Missense_Mutation_p.M96V	p.M102V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	3	386	+			96			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.304A>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360033	0.41801	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.96	5.96	0.96718	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.048598	0.85682	D	0.000000	D	0.90352	0.6981	L	0.48362	1.52	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	D	0.86458	0.1777	10	0.49607	T	0.09	-2.227	12.3002	0.54870	0.7529:0.2471:0.0:0.0	.	106;96	Q59HF8;P31327	.;CPSM_HUMAN	V	96;96;102;102;104;96;96	ENSP00000388496:M96V;ENSP00000430697:M96V;ENSP00000430644:M102V;ENSP00000402608:M102V;ENSP00000233072:M96V	ENSP00000233072:M96V	M	+	1	0	CPS1	211149364	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	3.839000	0.55835	2.284000	0.76573	0.528000	0.53228	ATG		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			G	211441119	A	G	211441119	3	3	184	1	0	0	0	0	1	0	0	0	3823	101	4	4	318	4	CPS1	2	211441119	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	19671288	211441119	31758254	7	13001											
KIF9	64147	broad.mit.edu	37	chr3	47307239	47307239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaacgagtccttcagagcGtgggtgagcttgcactgccg	7	9	13	12	3	1	2	1	1	0	1	2	3	2	2	3	1	5	2	3	1	1	3	rs146278510	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr3:47307239G>A	ENST00000265529.3	-	9	1577	c.897C>T	c.(895-897)caC>caT	p.H299H	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Silent_p.H299H|KIF9_ENST00000352910.4_Silent_p.H206H|KIF9_ENST00000452770.2_Silent_p.H299H|KIF9_ENST00000335044.2_Silent_p.H299H			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	299	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTTCAGAGCGTGGGTGAGCT	0.582													G|||	2	0.000399361	0	0.0029	5008	,	,		20380	0		0	False		,,,				2504	0				Colon(44;962 1147 15977 24541)	uc010hjp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(895-897)caC>caT		Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.		G	,,	0,4406		0,0,2203	179	137	152		897,897,897	-4.9	0.9	3	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous,coding-synonymous	KIF9	NM_001134878.1,NM_022342.4,NM_182902.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	299/791,299/726,299/791	47307239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47307239G>A	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.897C>T	3.37:g.47307239G>A						KIF9_uc003cqx.3_Silent_p.H299H|KIF9_uc003cqy.3_Silent_p.H299H|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	p.H299H	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1501	-		Acute lymphoblastic leukemia(5;0.164)	299					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.897C>T	CCDS2752.1																																																																																				0.582	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			A	47307239	G	A	47307239	2	1	184	1	0	0	0	0	0	0	0	1	8310	1136	40	1		1	KIF9	3	47307239	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		47307239	150715191	8	13002											
CEP135	9662	broad.mit.edu	37	chr4	56875926	56875926	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaagaaacattggttaatCgagatcgtgagataaacagc	17	9	10	5	2	0	4	0	2	0	3	2	6	0	4	0	1	3	1	0	1	5	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:56875926C>T	ENST00000257287.4	+	19	2486	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	788					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGGTTAATCGAGATCGTGA	0.363																																						uc003hbi.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2362-2364)Cga>Tga		Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.							63	64	63					4																	56875926		2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56875926C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2362C>T	4.37:g.56875926C>T	ENSP00000257287:p.Arg788*					CEP135_uc003hbj.3_Nonsense_Mutation_p.R494*	p.R788*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			18	2596	+	Glioma(25;0.08)|all_neural(26;0.101)		788					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2362C>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.224838	0.97390	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.49	4.64	0.57946	.	0.055066	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	12.9649	0.58478	0.4408:0.5592:0.0:0.0	.	.	.	.	X	788	.	ENSP00000257287:R788X	R	+	1	2	CEP135	56570683	1.000000	0.71417	0.931000	0.37212	0.117000	0.20001	3.554000	0.53720	1.429000	0.47314	0.655000	0.94253	CGA		0.363	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56875926	C	T	56875926	4	4	184	1	0	0	0	0	0	1	0	0	3247	876	31	2	2432	2	CEP135	4	56875926	Nonsense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		56875926	134278350	9	13003											
WDFY3	23001	broad.mit.edu	37	chr4	85657415	85657415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaagccactgctgacacGggataatttggactgtgtgg	11	9	12	9	1	0	1	0	1	0	0	0	3	0	3	2	3	2	1	2	3	2	2			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:85657415G>A	ENST00000295888.4	-	42	7230	c.6823C>T	c.(6823-6825)Cgt>Tgt	p.R2275C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2275C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2275					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCTGACACGGGATAATTTG	0.373																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(6823-6825)Cgt>Tgt		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							180	174	176					4																	85657415		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85657415G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6823C>T	4.37:g.85657415G>A	ENSP00000295888:p.Arg2275Cys					WDFY3_uc003hpe.1_5'Flank	p.R2275C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	41	7231	-		Hepatocellular(203;0.114)	2275					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6823C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467142	0.84533	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66995	-0.23;-0.24	5.35	5.35	0.76521	.	0.103999	0.64402	D	0.000003	T	0.69922	0.3165	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.50791	0.65	T	0.73056	-0.4103	10	0.87932	D	0	.	15.9391	0.79739	0.0:0.0:0.8648:0.1352	.	2275	Q8IZQ1	WDFY3_HUMAN	C	2275	ENSP00000318466:R2275C;ENSP00000295888:R2275C	ENSP00000295888:R2275C	R	-	1	0	WDFY3	85876439	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.352000	0.52239	2.941000	0.99782	0.655000	0.94253	CGT		0.373	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85657415	G	A	85657415	3	1	184	1	0	0	0	0	1	0	0	0	17267	1116	39	2	3865	2	WDFY3	4	85657415	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	28781489	85657415	105496861	10	13004											
GFM2	84340	broad.mit.edu	37	chr5	74056813	74056813	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttatagcagcatatattcTagtaaagagaaaaagaaact	19	12	6	4	0	1	2	0	0	1	2	1	3	1	2	0	0	3	3	0	0	10	8			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:74056813T>C	ENST00000296805.3	-	3	521		c.e3-2		GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site|GFM2_ENST00000427854.2_Splice_Site	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCATATATTCTAGTAAAGAGA	0.294																																						uc010izj.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.e4-1		Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							62	69	67					5																	74056813		2203	4297	6500	SO:0001630	splice_region_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74056813T>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.64-2A>G	5.37:g.74056813T>C						GFM2_uc003kdh.1_Splice_Site_p.N22_splice|GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	p.N54_splice	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	4	486	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	22						Splice_Site	SNP	ENST00000296805.3	37	c.160_splice	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	T	6.132	0.392617	0.11638	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	.	.	.	5.08	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1428	0.42744	0.149:0.0:0.0:0.851	.	.	.	.	.	-1	.	.	.	-	.	.	GFM2	74092569	0.993000	0.37304	0.796000	0.32109	0.030000	0.12068	3.211000	0.51137	2.216000	0.71823	0.533000	0.62120	.		0.294	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	Intron	C	74056813	T	C	74056813	5	2	184	1	0	0	0	0	0	0	1	0	6342	1536	53	4	2385	4	GFM2	5	74056813	Splice_Site	SNP	T	TCGA-27-1832-01A-01W-0643-08		74056813	106858447	11	13005											
PCDHA1	56147	broad.mit.edu	37	chr5	140167207	140167207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccagggtgtccgtggaGgtggccgacgtgaatgacaa	9	6	17	9	4	0	2	0	2	0	0	1	4	1	3	3	5	0	0	3	5	2	0			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:140167207G>A	ENST00000504120.2	+	1	1332	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	PCDHA1_ENST00000378133.3_Silent_p.E444E|PCDHA1_ENST00000394633.3_Silent_p.E444E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGGAGGTGGCCGACG	0.667																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1330-1332)gaG>gaA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							79	83	82					5																	140167207		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167207G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1332G>A	5.37:g.140167207G>A						PCDHAC2_uc003lha.2_Silent_p.E444E|PCDHAC2_uc003lgz.3_Silent_p.E444E	p.E444E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1332	+			458			Cadherin 4.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1332G>A	CCDS54913.1																																																																																				0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167207	G	A	140167207	2	1	184	1	0	0	0	0	0	0	0	1	11519	991	35	3		3	PCDHA1	5	140167207	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	66110394	140167207	40748053	12	13006											
RP9	6100	broad.mit.edu	37	chr7	33138995	33138995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccagaaattccctggcGtgttcattgcctggtacatc	8	12	10	11	1	1	2	1	1	0	1	3	2	2	2	3	2	3	2	3	2	2	4	rs374773345		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:33138995G>A	ENST00000297157.3	-	3	254	c.237C>T	c.(235-237)caC>caT	p.H79H		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	79	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATTCCCTGGCGTGTTCATTGC	0.463																																						uc003tdm.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(235-237)caC>caT		Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.							175	155	162					7																	33138995		2203	4300	6503	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33138995G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.237C>T	7.37:g.33138995G>A							p.H79H	NM_203288	NP_976033	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		2	255	-			79			PIM1-binding (By similarity).			Silent	SNP	ENST00000297157.3	37	c.237C>T	CCDS5440.1																																																																																				0.463	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		A	33138995	G	A	33138995	2	1	184	1	0	0	0	0	0	0	0	1	13535	1136	40	1		1	RP9	7	33138995	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		33138995	125999668	13	13007											
CROT	54677	broad.mit.edu	37	chr7	86998729	86998729	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaccacattgtagtgctGtgtcgaggccgagcttttgt	8	12	11	10	2	0	0	0	0	0	0	1	2	0	0	3	1	3	3	3	1	2	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:86998729G>T	ENST00000331536.3	+	7	770	c.585G>T	c.(583-585)ctG>ctT	p.L195L	CROT_ENST00000419147.2_Silent_p.L223L|CROT_ENST00000442291.1_Silent_p.L195L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	195					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGTAGTGCTGTGTCGAGGCC	0.428																																						uc003uiu.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(667-669)ctG>ctT		Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	L-Carnitine(DB00583)						213	199	203					7																	86998729		2203	4300	6503	SO:0001819	synonymous_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86998729G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.585G>T	7.37:g.86998729G>T						CROT_uc003uit.3_Silent_p.L195L	p.L223L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN			7	914	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		195					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	c.669G>T	CCDS5604.1																																																																																				0.428	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		T	86998729	G	T	86998729	2	4	184	1	0	0	0	0	0	0	0	1	3894	1364	48	5		5	CROT	7	86998729	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	53859734	86998729	72139934	14	13008											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138440516	138440516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggcaagggtagacaGtggctcgaaacctgtgttta	9	10	14	8	1	1	1	0	0	1	1	2	2	1	1	1	3	1	5	1	3	4	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:138440516G>T	ENST00000310018.2	-	10	1016	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.T245N|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.T245N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	245					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGTAGACAGTGGCTCGAAA	0.498																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(733-735)aCt>aAt		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							97	88	91					7																	138440516		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138440516G>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.734C>A	7.37:g.138440516G>T	ENSP00000308122:p.Thr245Asn					ATP6V0A4_uc003vug.3_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T245N	p.T245N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			8	972	-			245					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.734C>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838662	0.51057	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85411	-1.98;-1.98;-1.98	5.97	5.1	0.69264	.	0.324016	0.30311	N	0.009914	D	0.85208	0.5644	N	0.25789	0.76	0.53005	D	0.999962	D	0.63880	0.993	P	0.60541	0.876	T	0.82829	-0.0264	10	0.21540	T	0.41	-29.5671	15.368	0.74538	0.0667:0.0:0.9333:0.0	.	245	Q9HBG4	VPP4_HUMAN	N	245	ENSP00000308122:T245N;ENSP00000376774:T245N;ENSP00000253856:T245N	ENSP00000308122:T245N	T	-	2	0	ATP6V0A4	138091056	1.000000	0.71417	0.895000	0.35142	0.074000	0.17049	7.413000	0.80104	1.535000	0.49220	0.655000	0.94253	ACT		0.498	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		T	138440516	G	T	138440516	3	4	184	1	0	0	0	0	1	0	0	0	1170	1029	36	5	1840	5	ATP6V0A4	7	138440516	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	51441787	138440516	20698147	15	13009											
C9orf131	138724	broad.mit.edu	37	chr9	35045866	35045866	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccaaatctagtcagtaGagaaaaggctggtaatacta	16	8	8	9	0	2	1	1	0	1	1	2	2	2	1	2	2	1	3	2	2	8	5			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:35045866G>C	ENST00000312292.5	+	2	3287	c.3240G>C	c.(3238-3240)taG>taC	p.*1080Y	C9orf131_ENST00000421362.2_Nonstop_Mutation_p.*1032Y|C9orf131_ENST00000354479.5_Nonstop_Mutation_p.*1007Y	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTAGTCAGTAGAGAAAAGGCT	0.483																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(3238-3240)taG>taC		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							110	109	109					9																	35045866		2203	4300	6503	SO:0001578	stop_lost	138724							g.chr9:35045866G>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.3240G>C	9.37:g.35045866G>C	ENSP00000308279:p.*1080Tyrext*5					C9orf131_uc003zvu.3_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.3_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.3_Nonstop_Mutation_p.*1045Y	p.*1080Y	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	3269	+	all_epithelial(49;0.22)		0					A6NLE6|E9PB26|Q86XC6|Q9UF74	Nonstop_Mutation	SNP	ENST00000312292.5	37	c.3240G>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	4.538	0.099880	0.08681	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	.	.	.	2.15	0.15	0.14883	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7776	0.05352	0.1666:0.0:0.5594:0.274	.	.	.	.	Y	1032;1007;1080;555	.	.	X	+	3	2	C9orf131	35035866	0.000000	0.05858	0.003000	0.11579	0.184000	0.23303	-0.415000	0.07106	0.039000	0.15632	0.447000	0.29281	TAG		0.483	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		C	35045866	G	C	35045866	4	2	184	1	0	0	0	0	0	0	0	0	2457	937	33	5	3262	5	C9orf131	9	35045866	Nonstop_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		35045866	106167565	16	13010											
CNTNAP3	79937	broad.mit.edu	37	chr9	39099958	39099959	+	Frame_Shift_Ins	INS	-	-	C																															gaaggcacagtcacaggtgaINScccccctgcgtttctctctg																										TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:39099958_39099959insC	ENST00000297668.6	-	18	3017_3018	c.2944_2945insG	c.(2944-2946)gtcfs	p.V982fs	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Frame_Shift_Ins_p.V894fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	982	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCACAGGTGACCCCCCTGCGT	0.535																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2944-2946)gtcfs		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.																																				SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39099958_39099959insC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2945dupG	9.37:g.39099964_39099964dupC	ENSP00000297668:p.Val982fs					CNTNAP3_uc004abj.3_Intron|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs	p.V982fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	17	3183_3184	-			982			EGF-like 2.		B1AMA0|Q9C0E9	Frame_Shift_Ins	INS	ENST00000297668.6	37	c.2944_2945insG	CCDS6616.1																																																																																				0.535	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		C	39099959	-	C	39099958	7	5	184	1	0	1	1	0	0	0	0	0	3648	275	10	0	949	0	CNTNAP3	9	39099958	Frame_Shift_Ins	INS	-	TCGA-27-1832-01A-01W-0643-08	4054092	39099958	102113473	17	13011											
GPR107	57720	broad.mit.edu	37	chr9	132848732	132848732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatccttttctgttcataatAatggtggggcagtgtcattt	9	17	9	6	0	3	0	2	0	1	0	4	0	4	0	1	3	0	2	1	3	3	6			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:132848732A>G	ENST00000372406.1	+	7	1105	c.598A>G	c.(598-600)Aat>Gat	p.N200D	GPR107_ENST00000347136.6_Missense_Mutation_p.N200D|GPR107_ENST00000372410.3_Missense_Mutation_p.N200D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGTTCATAATAATGGTGGGGC	0.348																																						uc004bze.2																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(598-600)Aat>Gat		Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.							195	189	191					9																	132848732		2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132848732A>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.598A>G	9.37:g.132848732A>G	ENSP00000361483:p.Asn200Asp					GPR107_uc004bzb.2_Missense_Mutation_p.N11D|GPR107_uc011mbx.1_Missense_Mutation_p.N200D|GPR107_uc004bzd.2_Missense_Mutation_p.N200D	p.N200D	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			6	825	+		Ovarian(14;0.000531)	200					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.598A>G	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	9.507	1.104713	0.20632	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.23147	1.92;1.93;1.93	5.56	5.56	0.83823	.	0.451094	0.23799	N	0.044455	T	0.15696	0.0378	N	0.20685	0.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.20273	-1.0280	10	0.12103	T	0.63	-7.4326	12.125	0.53913	1.0:0.0:0.0:0.0	.	200;200;200	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	D	200	ENSP00000361483:N200D;ENSP00000336988:N200D;ENSP00000361487:N200D	ENSP00000336988:N200D	N	+	1	0	GPR107	131888553	0.007000	0.16637	0.028000	0.17463	0.645000	0.38454	2.227000	0.42972	2.123000	0.65237	0.477000	0.44152	AAT		0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			G	132848732	A	G	132848732	3	3	184	1	0	0	0	0	1	0	0	0	6623	362	13	4	624	4	GPR107	9	132848732	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	93748774	132848732	8364699	18	13012											
MS4A6A	64231	broad.mit.edu	37	chr11	59947358	59947358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacagtgtagaagtcacttgGgtaaaatttggagagaagga	16	9	13	3	0	1	2	1	0	0	2	1	5	1	4	0	3	1	2	0	3	6	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:59947358G>A	ENST00000530839.1	-	4	720	c.228C>T	c.(226-228)acC>acT	p.T76T	MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000529054.1_Silent_p.T104T|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000528851.1_Silent_p.T76T|MS4A6A_ENST00000420732.2_Silent_p.T76T|MS4A6A_ENST00000412309.2_Silent_p.T104T|MS4A6A_ENST00000532169.1_Silent_p.T76T|MS4A6A_ENST00000323961.3_Silent_p.T76T	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	76						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGTCACTTGGGTAAAATTTG	0.468																																						uc010rla.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(310-312)acC>acT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.							95	87	90					11																	59947358		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59947358G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.228C>T	11.37:g.59947358G>A						MS4A6A_uc001noq.3_Silent_p.T76T|MS4A6A_uc009ymv.3_Silent_p.T76T|MS4A6A_uc001not.3_Silent_p.T76T|MS4A6A_uc010rlb.2_Intron	p.T104T	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN			3	785	-			76					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	c.312C>T	CCDS7981.1																																																																																				0.468	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			A	59947358	G	A	59947358	2	1	184	1	0	0	0	0	0	0	0	1	9864	1219	43	3		3	MS4A6A	11	59947358	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		59947358	75059158	19	13013											
USP28	57646	broad.mit.edu	37	chr11	113688486	113688486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgaggcaggttttgtacTagcaaattcaataacatatt	13	15	7	6	0	2	1	1	1	1	0	2	1	2	1	0	2	3	4	0	2	6	9			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:113688486T>C	ENST00000003302.4	-	13	1425	c.1357A>G	c.(1357-1359)Agt>Ggt	p.S453G	USP28_ENST00000260188.5_Missense_Mutation_p.S453G|USP28_ENST00000537706.1_Missense_Mutation_p.S453G|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Missense_Mutation_p.S328G|USP28_ENST00000544967.1_Missense_Mutation_p.S161G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	453	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTGTACTAGCAAATTCA	0.463																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1357-1359)Agt>Ggt		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							157	142	147					11																	113688486		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113688486T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1357A>G	11.37:g.113688486T>C	ENSP00000003302:p.Ser453Gly					USP28_uc001pog.3_Missense_Mutation_p.S161G|USP28_uc010rwy.2_Missense_Mutation_p.S328G|USP28_uc001poi.3_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	p.S453G	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	12	1390	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	453					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1357A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851950	0.71719	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.49720	1.37;1.37;0.77;1.38;1.78	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.092076	0.85682	D	0.000000	T	0.51753	0.1693	M	0.76170	2.325	0.37894	D	0.930813	P;P;P;P	0.43542	0.507;0.81;0.763;0.649	B;B;B;B	0.43155	0.338;0.41;0.403;0.228	T	0.63161	-0.6699	10	0.62326	D	0.03	-20.3523	11.6313	0.51175	0.0:0.0707:0.0:0.9293	.	328;453;453;161	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	G	453;453;161;328;453	ENSP00000003302:S453G;ENSP00000260188:S453G;ENSP00000442431:S161G;ENSP00000444991:S328G;ENSP00000445743:S453G	ENSP00000003302:S453G	S	-	1	0	USP28	113193696	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.130000	0.57964	2.307000	0.77673	0.528000	0.53228	AGT		0.463	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			C	113688486	T	C	113688486	3	2	184	1	0	0	0	0	1	0	0	0	17055	1522	53	4	1928	4	USP28	11	113688486	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	53741128	113688486	21318030	20	13014											
CD163L1	283316	broad.mit.edu	37	chr12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctactctccccatacagCggttagttccacctacaagc	9	10	6	16	1	2	0	0	0	2	0	4	0	3	0	4	1	5	3	4	1	5	5			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:7559406C>T	ENST00000313599.3	-	5	866	c.809G>A	c.(808-810)cGc>cAc	p.R270H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	270	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(838-840)cGc>cAc		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							209	186	194					12																	7559406		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559406C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.809G>A	12.37:g.7559406C>T	ENSP00000315945:p.Arg270His					CD163L1_uc001qsy.3_Missense_Mutation_p.R270H	p.R280H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			4	865	-			270			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.839G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331677	0.24167	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	1.88	-1.44	0.08856	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.24044	0.0582	L	0.37697	1.125	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.21008	-1.0258	9	0.42905	T	0.14	.	5.8061	0.18440	0.0:0.3986:0.0:0.6014	.	280;270	E7EVK4;Q9NR16	.;C163B_HUMAN	H	270;280;270	ENSP00000315945:R270H;ENSP00000393474:R280H;ENSP00000379871:R270H	ENSP00000315945:R270H	R	-	2	0	CD163L1	7450673	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-4.189000	0.00277	-0.331000	0.08501	0.460000	0.39030	CGC		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7559406	C	T	7559406	3	4	184	1	0	0	0	0	1	0	0	0	2968	768	27	1	3612	1	CD163L1	12	7559406	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		7559406	126292489	21	13015											
TRPV4	59341	broad.mit.edu	37	chr12	110236625	110236625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctcgcgagtcctggcGccgcatgtccgccttcttgt	2	12	12	15	5	1	0	0	0	1	0	4	1	3	0	5	1	1	2	5	1	0	3	rs267607145		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:110236625G>A	ENST00000418703.2	-	5	1040	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRPV4_ENST00000536838.1_Missense_Mutation_p.R282C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R316C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R269C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R269C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R269C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R316C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R316C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	316			R -> C (in CMT2C and SPSMA). {ECO:0000269|PubMed:20037587, ECO:0000269|PubMed:20037588}.|R -> H (in CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death). {ECO:0000269|PubMed:21288981}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGTCCTGGCGCCGCATGTCC	0.612																																						uc001tpj.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(946-948)Cgc>Tgc		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							97	77	84					12																	110236625		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236625G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.946C>T	12.37:g.110236625G>A	ENSP00000406191:p.Arg316Cys					TRPV4_uc001tpg.2_Missense_Mutation_p.R282C|TRPV4_uc021rdp.1_Missense_Mutation_p.R316C|TRPV4_uc001tph.2_Missense_Mutation_p.R269C|TRPV4_uc001tpi.2_Missense_Mutation_p.R269C|TRPV4_uc001tpk.2_Missense_Mutation_p.R316C	p.R316C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			4	1041	-			316		R -> C (in CMT2C and SPSMA).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.946C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688417	0.68271	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.37	3.46	0.39613	Ankyrin repeat-containing domain (3);	0.122178	0.53938	D	0.000044	T	0.76241	0.3960	L	0.37800	1.135	0.44762	D	0.997761	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.987;0.998	D;D;D;P;P	0.87578	0.998;0.944;0.997;0.827;0.849	T	0.77683	-0.2496	10	0.59425	D	0.04	-18.2964	13.0325	0.58851	0.0:0.0:0.8376:0.1624	.	316;316;269;269;282	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	316;316;269;316;269;316;269;282	ENSP00000406191:R316C;ENSP00000261740:R316C;ENSP00000376480:R269C;ENSP00000319003:R316C;ENSP00000443611:R269C;ENSP00000442738:R316C;ENSP00000442167:R269C;ENSP00000444336:R282C	ENSP00000261740:R316C	R	-	1	0	TRPV4	108721008	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	2.803000	0.47924	1.167000	0.42706	0.655000	0.94253	CGC		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110236625	G	A	110236625	3	1	184	1	0	0	0	0	1	0	0	0	16595	1087	38	1	1713	1	TRPV4	12	110236625	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	102677219	110236625	23615270	22	13016											
AACS	65985	broad.mit.edu	37	chr12	125599073	125599073	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcacggcaacatgacCagcagtgacatcctcctgtg	9	8	10	14	1	0	2	0	2	0	0	2	2	2	2	3	1	4	4	3	1	1	0			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:125599073C>A	ENST00000316519.6	+	9	1172	c.966C>A	c.(964-966)acC>acA	p.T322T	AACS_ENST00000261686.6_Silent_p.T322T|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	322					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAACATGACCAGCAGTGACA	0.607																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(964-966)acC>acA		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.							112	87	95					12																	125599073		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125599073C>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.966C>A	12.37:g.125599073C>A						AACS_uc001uhd.3_Silent_p.T322T|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	p.T322T	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	8	1172	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		322					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.966C>A	CCDS9263.1																																																																																				0.607	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		A	125599073	C	A	125599073	2	1	184	1	0	0	0	0	0	0	0	1	9	581	21	5		5	AACS	12	125599073	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08	15362448	125599073	8252822	23	13017											
IPO5	3843	broad.mit.edu	37	chr13	98666352	98666352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtgtgcaagagtcCgtggtcctgagtatctcaca	8	11	12	10	1	1	2	1	1	1	1	5	3	4	3	3	2	1	2	3	2	2	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:98666352C>T	ENST00000490680.1	+	19	2274	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	IPO5_ENST00000539640.1_Missense_Mutation_p.R612C|IPO5_ENST00000261574.5_Missense_Mutation_p.R755C			O00410	IPO5_HUMAN	importin 5	737					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGCAAGAGTCCGTGGTCCTGA	0.438																																						uc001vne.3																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(2263-2265)Cgt>Tgt		Homo sapiens importin 5 (IPO5), mRNA.							148	143	145					13																	98666352		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98666352C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2209C>T	13.37:g.98666352C>T	ENSP00000418393:p.Arg737Cys						p.R755C	NM_002271	NP_002262	O00410	IPO5_HUMAN			21	2443	+			737					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.2263C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.283094	0.95489	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.81348	-0.0973	10	0.87932	D	0	0.4589	19.9311	0.97118	0.0:1.0:0.0:0.0	.	755	O00410-3	.	C	755;737;737;612	ENSP00000261574:R755C;ENSP00000350219:R737C;ENSP00000418393:R737C;ENSP00000445126:R612C	ENSP00000261574:R755C	R	+	1	0	IPO5	97464353	1.000000	0.71417	0.439000	0.26833	0.996000	0.88848	7.554000	0.82212	2.721000	0.93114	0.655000	0.94253	CGT		0.438	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98666352	C	T	98666352	3	4	184	1	0	0	0	0	1	0	0	0	7796	652	23	2	2341	2	IPO5	13	98666352	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		98666352	16503526	24	13018											
F10	2159	broad.mit.edu	37	chr13	113793675	113793675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctctctttgcagatggCgaccagtgtgagaccagtcc	9	10	10	12	1	1	2	0	1	1	2	4	4	3	2	4	1	1	1	4	1	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:113793675C>T	ENST00000375559.3	+	4	299	c.261C>T	c.(259-261)ggC>ggT	p.G87G	F10_ENST00000375551.3_Silent_p.G87G|F10_ENST00000409306.1_Silent_p.G87G	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	87	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TTGCAGATGGCGACCAGTGTG	0.502																																						uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(259-261)ggC>ggT		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						93	84	87					13																	113793675		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113793675C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.261C>T	13.37:g.113793675C>T						F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.G87G	p.G87G	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		3	318	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	87			EGF-like 1; calcium-binding (Potential).		Q14340	Silent	SNP	ENST00000375559.3	37	c.261C>T	CCDS9530.1																																																																																				0.502	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			T	113793675	C	T	113793675	2	4	184	1	0	0	0	0	0	0	0	1	5336	755	27	1		1	F10	13	113793675	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08	15127323	113793675	1376203	25	13019											
SLC7A7	9056	broad.mit.edu	37	chr14	23245049	23245049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactcttacctagaagCagccacaatggaggcattga	12	9	9	11	0	1	2	0	1	1	1	1	3	1	3	3	2	4	2	3	2	4	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:23245049C>T	ENST00000397532.3	-	6	1516	c.991G>A	c.(991-993)Gct>Act	p.A331T	SLC7A7_ENST00000555702.1_Missense_Mutation_p.A331T|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A331T|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A331T|SLC7A7_ENST00000397528.4_Missense_Mutation_p.A331T|SLC7A7_ENST00000554517.1_Missense_Mutation_p.A65T			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	331					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TACCTAGAAGCAGCCACAATG	0.428																																						uc001wgr.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(991-993)Gct>Act		Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.							145	149	148					14																	23245049		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23245049C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.991G>A	14.37:g.23245049C>T	ENSP00000380666:p.Ala331Thr					SLC7A7_uc001wgs.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.4_Missense_Mutation_p.A331T	p.A331T	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	5	1129	-	all_cancers(95;8.44e-05)		331					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.991G>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076719	0.94000	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	6.08	6.08	0.98989	Amino acid permease domain (1);	0.106801	0.64402	D	0.000006	D	0.93641	0.7969	L	0.58302	1.8	0.58432	D	0.999994	P	0.46142	0.873	P	0.56088	0.791	D	0.93457	0.6807	10	0.87932	D	0	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	331	Q9UM01	YLAT1_HUMAN	T	331;331;331;304;331;331;65	ENSP00000285850:A331T;ENSP00000451881:A331T;ENSP00000380666:A331T;ENSP00000380663:A331T;ENSP00000380662:A331T;ENSP00000452083:A65T	ENSP00000285850:A331T	A	-	1	0	SLC7A7	22314889	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.828000	0.39111	2.894000	0.99253	0.655000	0.94253	GCT		0.428	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			T	23245049	C	T	23245049	3	4	184	1	0	0	0	0	1	0	0	0	14703	710	25	3	564	3	SLC7A7	14	23245049	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		23245049	84104491	26	13020											
NFKBIA	4792	broad.mit.edu	37	chr14	35871759	35871759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtagggagaatagccCtggtaggtaactctgttgac	10	10	14	7	0	1	2	0	1	1	1	1	3	1	2	1	4	3	5	1	4	5	5			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:35871759C>A	ENST00000216797.5	-	5	848	c.747G>T	c.(745-747)caG>caT	p.Q249H	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.Q159H|NFKBIA_ENST00000557140.1_Intron	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	249					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GAGAATAGCCCTGGTAGGTAA	0.577																																						uc001wtf.4																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(745-747)caG>caT		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.							106	102	103					14																	35871759		2203	4300	6503	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35871759C>A		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.747G>T	14.37:g.35871759C>A	ENSP00000216797:p.Gln249His						p.Q249H	NM_020529	NP_065390	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	4	857	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		249					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.747G>T	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406326	0.62288	.	.	ENSG00000100906	ENST00000216797;ENST00000557389	T;T	0.35973	1.28;1.28	5.32	-0.489	0.12052	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.38825	0.1055	L	0.57536	1.79	0.52099	D	0.999944	D	0.58268	0.982	P	0.50162	0.633	T	0.20405	-1.0276	9	0.37606	T	0.19	-2.3947	10.0673	0.42311	0.0:0.5647:0.0:0.4353	.	249	P25963	IKBA_HUMAN	H	249;159	ENSP00000216797:Q249H;ENSP00000450514:Q159H	ENSP00000216797:Q249H	Q	-	3	2	NFKBIA	34941510	0.970000	0.33590	0.991000	0.47740	0.991000	0.79684	0.102000	0.15272	-0.324000	0.08589	0.655000	0.94253	CAG		0.577	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		A	35871759	C	A	35871759	3	1	184	1	0	0	0	0	1	0	0	0	10377	680	24	5	214	5	NFKBIA	14	35871759	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	12626710	35871759	71477781	27	13021											
TPSD1	23430	broad.mit.edu	37	chr16	1306641	1306641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcacttctgcgggggctcCctcatccacccccagtgggt	5	9	11	16	1	2	0	1	0	1	0	4	0	4	0	4	3	2	2	4	3	0	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:1306641C>T	ENST00000211076.3	+	2	355	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TPSD1_ENST00000397534.2_Silent_p.S62S|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCGGGGGCTCCCTCATCCACC	0.692																																						uc002clb.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(205-207)tcC>tcT		Homo sapiens tryptase delta 1 (TPSD1), mRNA.							54	66	62					16																	1306641		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306641C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.207C>T	16.37:g.1306641C>T						TPSD1_uc010brm.1_Silent_p.S7S	p.S69S	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			1	216	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.207C>T	CCDS10432.1																																																																																				0.692	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			T	1306641	C	T	1306641	2	4	184	1	0	0	0	0	0	0	0	1	16422	610	22	3		3	TPSD1	16	1306641	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08		1306641	89048112	28	13022											
DNAH3	55567	broad.mit.edu	37	chr16	20975342	20975342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagcccatccgagtctcGtcaatctgcgtttctgtcat	6	15	8	12	3	5	0	2	0	3	0	7	1	6	0	2	0	2	2	2	0	2	3	rs142743875	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:20975342G>A	ENST00000261383.3	-	53	9863	c.9864C>T	c.(9862-9864)gaC>gaT	p.D3288D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3288					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGAGTCTCGTCAATCTGCG	0.498													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		20718	0		0	False		,,,				2504	0					uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9862-9864)gaC>gaT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		G		12,4390	19.1+/-41.9	0,12,2189	125	126	125		9864	-5.4	0	16	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,12,6489	AA,AG,GG		0.0,0.2726,0.0923		3288/4117	20975342	12,12990	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975342G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9864C>T	16.37:g.20975342G>A						DNAH3_uc010vbd.2_Silent_p.D723D	p.D3288D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	9864	-			3288					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9864C>T	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	20975342	G	A	20975342	2	1	184	1	0	0	0	0	0	0	0	1	4603	1136	40	1		1	DNAH3	16	20975342	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	19668701	20975342	69379411	29	13023											
KIAA0556	23247	broad.mit.edu	37	chr16	27761189	27761189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgactttaaaatccccGtcttgccttatggacagcgc	8	11	11	11	2	1	1	0	1	1	0	2	2	2	2	3	3	2	0	3	3	3	4	rs374130852		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:27761189G>A	ENST00000261588.4	+	16	2927	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	970						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TAAAATCCCCGTCTTGCCTTA	0.557																																						uc002dow.3																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2908-2910)Gtc>Atc		Homo sapiens KIAA0556 (KIAA0556), mRNA.		G	ILE/VAL	0,4394		0,0,2197	41	41	41		2908	5	0.2	16		41	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIAA0556	NM_015202.2	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	970/1619	27761189	2,12992	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761189G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2908G>A	16.37:g.27761189G>A	ENSP00000261588:p.Val970Ile						p.V970I	NM_015202	NP_056017	O60303	K0556_HUMAN			15	2932	+			970					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2908G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298580	0.60195	0.0	2.33E-4	ENSG00000047578	ENST00000261588	T	0.13538	2.58	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.54323	1.7	0.39599	D	0.969709	D	0.65815	0.995	P	0.62435	0.902	T	0.01541	-1.1329	10	0.52906	T	0.07	-22.0539	14.725	0.69339	0.0:0.1456:0.8544:0.0	.	970	O60303	K0556_HUMAN	I	970	ENSP00000261588:V970I	ENSP00000261588:V970I	V	+	1	0	KIAA0556	27668690	1.000000	0.71417	0.242000	0.24170	0.223000	0.24884	7.713000	0.84693	2.462000	0.83206	0.655000	0.94253	GTC		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27761189	G	A	27761189	3	1	184	1	0	0	0	0	1	0	0	0	8183	1145	40	1	2970	1	KIAA0556	16	27761189	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	6785847	27761189	62593564	30	13024											
TRIM72	493829	broad.mit.edu	37	chr16	31235634	31235634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccagttcgacaaggCggtggcggtggtggcgcacc	5	5	17	14	6	0	0	0	0	0	0	1	1	0	0	3	6	0	2	3	6	1	1	rs375401025		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:31235634C>T	ENST00000322122.3	+	7	1276	c.992C>T	c.(991-993)gCg>gTg	p.A331V	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TTCGACAAGGCGGTGGCGGTG	0.731																																						uc002ebn.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(991-993)gCg>gTg		Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.							12	13	13					16																	31235634		2190	4276	6466	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31235634C>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.992C>T	16.37:g.31235634C>T	ENSP00000312675:p.Ala331Val					TRIM72_uc002ebp.1_5'Flank	p.A331V	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			6	1276	+			331			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000322122.3	37	c.992C>T	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183015	0.57800	.	.	ENSG00000177238	ENST00000322122	T	0.10288	2.89	5.44	4.48	0.54585	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.386356	0.24894	N	0.034754	T	0.05502	0.0145	N	0.11756	0.17	0.36063	D	0.841591	B	0.29341	0.242	B	0.15870	0.014	T	0.41448	-0.9508	10	0.17369	T	0.5	.	12.5402	0.56165	0.0:0.9179:0.0:0.0821	.	331	Q6ZMU5	TRI72_HUMAN	V	331	ENSP00000312675:A331V	ENSP00000312675:A331V	A	+	2	0	TRIM72	31143135	0.468000	0.25839	0.950000	0.38849	0.892000	0.51952	0.995000	0.29706	2.570000	0.86706	0.491000	0.48974	GCG		0.731	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		T	31235634	C	T	31235634	3	4	184	1	0	0	0	0	1	0	0	0	16542	768	27	1	1014	1	TRIM72	16	31235634	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	3474445	31235634	59119119	31	13025											
SMCR8	140775	broad.mit.edu	37	chr17	18219935	18219935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagcacatccaggatcagGccagccaggcatccactacc	11	5	10	15	0	1	0	1	0	0	0	3	2	3	2	5	4	3	2	5	4	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:18219935G>A	ENST00000406438.3	+	1	1312	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	278						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCAGGATCAGGCCAGCCAGGC	0.517																																						uc002gsy.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(832-834)Gcc>Acc		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.							77	63	68					17																	18219935		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219935G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.832G>A	17.37:g.18219935G>A	ENSP00000385025:p.Ala278Thr						p.A278T	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			0	1342	+			278					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.832G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647069	0.03506	.	.	ENSG00000176994	ENST00000406438	T	0.22743	1.94	6.03	4.03	0.46877	.	0.620599	0.16795	N	0.199223	T	0.16642	0.0400	L	0.40543	1.245	0.41441	D	0.987921	P	0.43352	0.804	B	0.37387	0.248	T	0.03231	-1.1058	10	0.14252	T	0.57	-31.7773	13.9718	0.64245	0.0:0.1299:0.7625:0.1076	.	278	Q8TEV9	SMCR8_HUMAN	T	278	ENSP00000385025:A278T	ENSP00000385025:A278T	A	+	1	0	SMCR8	18160660	0.018000	0.18449	0.805000	0.32314	0.319000	0.28217	0.595000	0.24029	0.854000	0.35336	0.655000	0.94253	GCC		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		A	18219935	G	A	18219935	3	1	184	1	0	0	0	0	1	0	0	0	14792	1203	42	3	834	3	SMCR8	17	18219935	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		18219935	62975275	32	13026											
ENPP7	339221	broad.mit.edu	37	chr17	77710991	77710991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtacgagctcatgtgccGgctgctgggcatcgtgcccg	4	9	15	13	5	1	0	1	0	0	0	2	1	1	0	2	2	5	5	2	2	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:77710991G>A	ENST00000328313.5	+	4	1399	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCATGTGCCGGCTGCTGGGC	0.647																																						uc002jxa.3																			0		p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1177-1179)cGg>cAg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.							59	50	53					17																	77710991		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77710991G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1178G>A	17.37:g.77710991G>A	ENSP00000332656:p.Arg393Gln						p.R393Q	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	1198	+			393						Missense_Mutation	SNP	ENST00000328313.5	37	c.1178G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	7.478	0.648047	0.14516	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	3.07	1.85	0.25348	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.824992	0.10969	N	0.614092	T	0.56277	0.1974	N	0.24115	0.695	0.23572	N	0.997382	B	0.06786	0.001	B	0.06405	0.002	T	0.35674	-0.9779	10	0.14252	T	0.57	-10.5339	8.055	0.30600	0.8969:0.0:0.1031:0.0	.	393	Q6UWV6	ENPP7_HUMAN	Q	393	ENSP00000332656:R393Q	ENSP00000332656:R393Q	R	+	2	0	ENPP7	75325586	0.002000	0.14202	0.684000	0.30055	0.291000	0.27294	1.947000	0.40293	0.390000	0.25115	-0.459000	0.05422	CGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		A	77710991	G	A	77710991	3	1	184	1	0	0	0	0	1	0	0	0	5135	1116	39	2	1192	2	ENPP7	17	77710991	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	59491056	77710991	3484219	33	13027											
SLC38A10	124565	broad.mit.edu	37	chr17	79226299	79226302	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															tgctccggctcttgtttctcTctttctgagtcgggcagagg																										TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:79226299_79226302delTCTT	ENST00000374759.3	-	13	2021_2024	c.1638_1641delAAGA	c.(1636-1641)gaaagafs	p.ER546fs	SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.ER546fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	546					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTTTCTCTCTTTCTGAGTCGG	0.618																																						uc002jzz.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1636-1641)gaaagafs		Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226299_79226302delTCTT	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1638_1641delAAGA	17.37:g.79226299_79226302delTCTT	ENSP00000363891:p.Glu546fs					SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.3_Frame_Shift_Del_p.E546fs	p.E546fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		12	2013_2016	-	all_neural(118;0.0804)|Melanoma(429;0.242)		546					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.1638_1641delAAGA	CCDS42397.1																																																																																				0.618	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		-	79226302	TCTT	-	79226299	7	5	184	1	0	1	0	1	0	0	0	0	14602	1548	54	0	2012	0	SLC38A10	17	79226299	Frame_Shift_Del	DEL	TCTT	TCGA-27-1832-01A-01W-0643-08	1515308	79226299	1968911	34	13028											
DUS1L	64118	broad.mit.edu	37	chr17	80020801	80020801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaatctccgggaagacaCggattttgcacgtgacagga	11	9	12	9	3	2	2	1	1	1	1	3	5	2	5	1	3	1	1	1	3	2	2			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:80020801C>T	ENST00000354321.7	-	4	931	c.446G>A	c.(445-447)cGt>cAt	p.R149H	DUS1L_ENST00000306796.5_Missense_Mutation_p.R149H			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	149							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGGAAGACACGGATTTTGCA	0.602																																						uc002kdq.3																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(445-447)cGt>cAt		Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.							65	63	64					17																	80020801		2202	4300	6502	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80020801C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.446G>A	17.37:g.80020801C>T	ENSP00000346280:p.Arg149His					DUS1L_uc002kdp.3_Missense_Mutation_p.R18H|DUS1L_uc002kdr.3_Missense_Mutation_p.R149H|DUS1L_uc010wvi.1_Missense_Mutation_p.R132H	p.R149H	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		3	865	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		149					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.446G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274227	0.59649	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.49432	0.78;0.78;0.78	3.61	3.61	0.41365	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.998	D	0.89996	0.4111	10	0.87932	D	0	-13.6386	15.4443	0.75216	0.0:1.0:0.0:0.0	.	22;149;18	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	H	149;149;22;17	ENSP00000346280:R149H;ENSP00000303515:R149H;ENSP00000445110:R17H	ENSP00000303515:R149H	R	-	2	0	DUS1L	77614090	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.219000	0.78000	1.851000	0.53745	0.591000	0.81541	CGT		0.602	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		T	80020801	C	T	80020801	3	4	184	1	0	0	0	0	1	0	0	0	4805	536	19	1	1015	1	DUS1L	17	80020801	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	794502	80020801	1174409	35	13029											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763986	14763986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatctgtaaagactgaatgCgtggcaggagtaacacctaa	15	8	10	8	1	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	5	3	rs535080976		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14763986C>G	ENST00000358984.4	+	7	1302	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.C374W|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	374										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGACTGAATGCGTGGCAGGAG	0.363																																						uc010dlo.2																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1120-1122)tgC>tgG		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							42	36	38					18																	14763986		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763986C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1122C>G	18.37:g.14763986C>G	ENSP00000351875:p.Cys374Trp					ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.C374W	p.C374W	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			6	1302	+			374					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1122C>G	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	6.399	0.441803	0.12164	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.51817	0.69;0.76	0.217	0.217	0.15264	.	.	.	.	.	T	0.55465	0.1922	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.42783	-0.9431	8	0.59425	D	0.04	.	.	.	.	.	374	F8WAG3	.	W	374	ENSP00000351875:C374W;ENSP00000399031:C374W	ENSP00000351875:C374W	C	+	3	2	ANKRD30B	14753986	0.003000	0.15002	0.021000	0.16686	0.022000	0.10575	-0.795000	0.04580	0.292000	0.22492	0.297000	0.19635	TGC		0.363	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		G	14763986	C	G	14763986	3	3	184	1	0	0	0	0	1	0	0	0	659	776	27	5	1148	5	ANKRD30B	18	14763986	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		14763986	63313262	36	13030											
DSEL	92126	broad.mit.edu	37	chr18	65181103	65181103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacagcctgtttccatataTttgctttagatcctttatct	8	19	4	10	0	1	1	0	0	1	1	3	1	3	1	3	0	3	2	3	0	5	9			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:65181103T>C	ENST00000310045.7	-	2	2246	c.773A>G	c.(772-774)aAt>aGt	p.N258S	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	248					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTCCATATATTTGCTTTAGA	0.418																																						uc002lke.1																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(772-774)aAt>aGt		Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.							114	110	112					18																	65181103		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181103T>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.773A>G	18.37:g.65181103T>C	ENSP00000310565:p.Asn258Ser					LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.N258S	p.N258S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			1	1997	-		Esophageal squamous(42;0.129)	248					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.773A>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	6.829	0.522111	0.13066	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22539	1.95	4.95	2.29	0.28610	.	0.391586	0.26258	U	0.025409	T	0.14098	0.0341	L	0.36672	1.1	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.29941	-0.9995	10	0.09338	T	0.73	.	11.4285	0.50025	0.0:0.0:0.2862:0.7138	.	248	Q8IZU8	DSEL_HUMAN	S	258;248	ENSP00000310565:N258S	ENSP00000310565:N258S	N	-	2	0	DSEL	63332083	0.988000	0.35896	0.094000	0.20943	0.940000	0.58332	2.965000	0.49200	0.819000	0.34492	0.454000	0.30748	AAT		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		C	65181103	T	C	65181103	3	2	184	1	0	0	0	0	1	0	0	0	4775	1493	52	4	2899	4	DSEL	18	65181103	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	50417117	65181103	12896145	37	13031											
KLK15	55554	broad.mit.edu	37	chr19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgccacagttaaagcGtccacgctcgtagagagcca	12	5	12	12	4	0	1	0	0	0	1	2	3	1	2	3	1	3	3	3	1	4	2	rs140896741	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr19:51330985G>A	ENST00000598239.1	-	2	160	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|KLK15_ENST00000326856.4_Missense_Mutation_p.R43C|KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000596931.1_Missense_Mutation_p.R43C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(130-132)Cgc>Tgc		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	98	72	81		130,130,130	3.6	0	19	dbSNP_134	81	3,8587	3.0+/-9.4	0,3,4292	yes	missense,missense,missense	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	180,180,180	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	44/257,44/162,44/172	51330985	3,12993	2203	4295	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330985G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.130C>T	19.37:g.51330985G>A	ENSP00000469315:p.Arg44Cys					KLK15_uc002ptm.3_Missense_Mutation_p.R44C|KLK15_uc002ptn.3_Missense_Mutation_p.R44C|KLK15_uc002pto.3_Missense_Mutation_p.R43C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R43C|KLK15_uc010eod.3_Non-coding_Transcript	p.R44C	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	1	161	-		all_neural(266;0.057)	44			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.130C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252707	0.59212	0.0	3.49E-4	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89196	-2.48;-2.48	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000569	D	0.91981	0.7460	M	0.66506	2.035	0.43517	D	0.995781	D;D;B;D	0.89917	0.962;1.0;0.383;1.0	B;D;B;D	0.79784	0.236;0.959;0.167;0.993	D	0.91211	0.4999	10	0.66056	D	0.02	.	7.3009	0.26420	0.1977:0.0:0.8023:0.0	.	44;43;44;44	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	44	ENSP00000415136:R44C;ENSP00000301421:R44C	ENSP00000301421:R44C	R	-	1	0	KLK15	56022797	1.000000	0.71417	0.017000	0.16124	0.815000	0.46073	4.427000	0.59888	1.324000	0.45282	0.561000	0.74099	CGC		0.612	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		A	51330985	G	A	51330985	3	1	184	1	0	0	0	0	1	0	0	0	8403	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		51330985	7797998	38	13032											
RRP1B	23076	broad.mit.edu	37	chr21	45113183	45113183	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagacccccaccagctcAcctgccagctcacccctggt	8	6	7	20	0	2	2	2	1	0	1	2	2	2	2	7	1	3	2	7	1	1	0			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr21:45113183A>C	ENST00000340648.4	+	16	2313	c.2196A>C	c.(2194-2196)tcA>tcC	p.S732S		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	732					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCACCAGCTCACCTGCCAGCT	0.612																																						uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(2194-2196)tcA>tcC		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							30	29	29					21																	45113183		2203	4300	6503	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45113183A>C	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.2196A>C	21.37:g.45113183A>C						RRP1B_uc002zdl.3_Silent_p.S265S	p.S732S	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	15	2310	+			732					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.2196A>C	CCDS33577.1																																																																																				0.612	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		C	45113183	A	C	45113183	2	2	184	1	0	0	0	0	0	0	0	1	13688	146	6	5		5	RRP1B	21	45113183	Silent	SNP	A	TCGA-27-1832-01A-01W-0643-08		45113183	3016712	39	13033											
C22orf42	150297	broad.mit.edu	37	chr22	32546408	32546408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggctttcactgagatcCgatgtcatgaagtcttcaag	11	12	10	8	1	4	2	3	2	1	1	5	5	5	2	1	1	0	1	1	1	3	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:32546408C>T	ENST00000382097.3	-	7	624	c.552G>A	c.(550-552)tcG>tcA	p.S184S	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	184								p.S184S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CACTGAGATCCGATGTCATGA	0.458																																						uc003amd.3																			1	Substitution - coding silent(1)	p.S184S(2)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(550-552)tcG>tcA		Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.							140	124	130					22																	32546408		2203	4300	6503	SO:0001819	synonymous_variant	150297							g.chr22:32546408C>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.552G>A	22.37:g.32546408C>T							p.S184S	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			6	593	-			184					A4QPH5	Silent	SNP	ENST00000382097.3	37	c.552G>A	CCDS33639.1																																																																																				0.458	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		T	32546408	C	T	32546408	2	4	184	1	0	0	0	0	0	0	0	1	2149	639	23	2		2	C22orf42	22	32546408	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08		32546408	18758158	40	13034											
TMPRSS6	164656	broad.mit.edu	37	chr22	37469590	37469590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttcctggcactgctcttCgtcgctgccgttgagacaat	6	12	9	14	3	1	1	0	1	1	1	4	2	2	1	3	1	2	4	3	1	1	3	rs387907018		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:37469590C>T	ENST00000346753.3	-	13	1680	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E513K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E513K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E513K	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	522	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.		E -> K (in IRIDA; reduced expression at the cell surface; partially retained in the Golgi apparatus; does not undergo proteolytic processing; able to interact with HFE2; results in reduced inhibition of HAMP promoter). {ECO:0000269|PubMed:19357398}.		angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTGCTCTTCGTCGCTGCCG	0.552																																						uc003aqt.1																			0		p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1537-1539)Gaa>Aaa		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							168	125	139					22																	37469590		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37469590C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1564G>A	22.37:g.37469590C>T	ENSP00000334962:p.Glu522Lys					TMPRSS6_uc003aqs.1_Missense_Mutation_p.E522K	p.E513K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			12	1599	-			522			LDL-receptor class A 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1537G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342716	0.61073	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.98466	4.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97797	1.0242	10	0.72032	D	0.01	.	17.4077	0.87477	0.0:1.0:0.0:0.0	.	513;522	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	K	513;522;513;513	ENSP00000371211:E513K;ENSP00000334962:E522K;ENSP00000385453:E513K;ENSP00000384964:E513K	ENSP00000334962:E522K	E	-	1	0	TMPRSS6	35799536	1.000000	0.71417	0.224000	0.23877	0.033000	0.12548	6.879000	0.75572	2.211000	0.71520	0.471000	0.43371	GAA		0.552	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37469590	C	T	37469590	3	4	184	1	0	0	0	0	1	0	0	0	16248	893	31	2	895	2	TMPRSS6	22	37469590	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	4923182	37469590	13834976	41	13035											
STS	412	broad.mit.edu	37	chrX	7194035	7194035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgtcctacctccacGtgcacacagccctgttctcc	5	13	6	17	1	2	0	0	0	2	0	5	0	4	0	5	0	3	2	5	0	1	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:7194035G>A	ENST00000217961.4	+	6	1085	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	289					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CTACCTCCACGTGCACACAGC	0.453									Ichthyosis																													uc004cry.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(865-867)Gtg>Atg		Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	Estrone(DB00655)						107	72	84					X																	7194035		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7194035G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.865G>A	X.37:g.7194035G>A	ENSP00000217961:p.Val289Met						p.V289M	NM_000351	NP_000342	P08842	STS_HUMAN			5	1110	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	289					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.865G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333723	0.41297	.	.	ENSG00000101846	ENST00000217961	D	0.94046	-3.34	3.91	2.97	0.34412	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.061232	0.64402	N	0.000004	D	0.94398	0.8198	L	0.60904	1.88	0.36444	D	0.865699	D	0.76494	0.999	D	0.66084	0.941	D	0.94055	0.7321	10	0.62326	D	0.03	.	8.4848	0.33065	0.1299:0.0:0.8701:0.0	.	289	P08842	STS_HUMAN	M	289	ENSP00000217961:V289M	ENSP00000217961:V289M	V	+	1	0	STS	7204035	1.000000	0.71417	0.478000	0.27316	0.159000	0.22180	3.743000	0.55104	0.433000	0.26313	0.506000	0.49869	GTG		0.453	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		A	7194035	G	A	7194035	3	1	184	1	0	0	0	0	1	0	0	0	15331	1145	40	1	887	1	STS	23	7194035	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		7194035	148076525	42	13036											
PHF16	9767	broad.mit.edu	37	chrX	46918293	46918293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagagctccatatcaGgaaaatgatggctattgccc	12	8	12	9	0	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	4	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:46918293G>C	ENST00000218343.4	+	11	2584	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	PHF16_ENST00000397189.1_Missense_Mutation_p.Q762H	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCATATCAGGAAAATGATG	0.483																																						uc004dgx.3																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(2284-2286)caG>caC		Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.							47	41	43					X																	46918293		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46918293G>C																												ENST00000218343.4:c.2286G>C	X.37:g.46918293G>C	ENSP00000218343:p.Gln762His					PHF16_uc004dgy.3_Missense_Mutation_p.Q762H	p.Q762H	NM_001077445	NP_055550	Q92613	JADE3_HUMAN			10	2337	+			762						Missense_Mutation	SNP	ENST00000218343.4	37	c.2286G>C	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458212	0.43634	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.59638	0.25;0.25	5.55	-0.203	0.13204	.	1.012530	0.07878	N	0.969042	T	0.43853	0.1266	L	0.34521	1.04	0.54753	D	0.999987	P	0.43477	0.808	B	0.42851	0.4	T	0.42732	-0.9434	10	0.62326	D	0.03	.	1.5222	0.02518	0.3408:0.128:0.3969:0.1343	.	762	Q92613	JADE3_HUMAN	H	762	ENSP00000380373:Q762H;ENSP00000218343:Q762H	ENSP00000218343:Q762H	Q	+	3	2	PHF16	46803237	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	2.404000	0.44539	-0.190000	0.10465	-0.199000	0.12753	CAG		0.483	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			C	46918293	G	C	46918293	3	2	184	1	0	0	0	0	1	0	0	0	11827	991	35	5	2324	5	PHF16	23	46918293	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	39724258	46918293	108352267	43	13037											
SLC6A14	11254	broad.mit.edu	37	chrX	115582754	115582754	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaactgtctcactagcgtgTttgctggatttgctattttt	7	18	8	8	1	1	0	1	0	1	0	2	1	1	1	0	1	4	3	0	1	3	6			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:115582754T>G	ENST00000371900.4	+	8	1166	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	360					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CACTAGCGTGTTTGCTGGATT	0.358																																						uc004eqi.3																			0		p.V359L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1078-1080)Ttt>Gtt		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						172	154	160					X																	115582754		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582754T>G	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1078T>G	X.37:g.115582754T>G	ENSP00000360967:p.Phe360Val						p.F360V	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			7	1209	+			360					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1078T>G	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760677	0.69763	.	.	ENSG00000087916	ENST00000371900	T	0.73789	-0.78	5.43	5.43	0.79202	.	0.049510	0.85682	D	0.000000	T	0.68988	0.3061	L	0.31371	0.925	0.48040	D	0.999575	P	0.42827	0.791	P	0.47941	0.562	T	0.66448	-0.5921	10	0.26408	T	0.33	.	12.2595	0.54642	0.0:0.0:0.0:1.0	.	360	Q9UN76	S6A14_HUMAN	V	360	ENSP00000360967:F360V	ENSP00000360967:F360V	F	+	1	0	SLC6A14	115496782	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	2.542000	0.45744	1.799000	0.52666	0.437000	0.28790	TTT		0.358	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			G	115582754	T	G	115582754	3	3	184	1	0	0	0	0	1	0	0	0	14677	1725	60	5	1108	5	SLC6A14	23	115582754	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	68664461	115582754	39687806	44	13038											
CDR1	1038	broad.mit.edu	37	chrX	139865904	139865904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcaatccacatcttcCggaaaaaatccaggtcttcc	12	10	5	14	1	3	0	1	0	2	0	8	1	8	1	5	2	0	0	5	2	4	2	rs143948461		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:139865904C>T	ENST00000370532.2	-	1	819	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	210								p.G210R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACATCTTCCGGAAAAAATC	0.438																																						uc004fbg.1																			1	Substitution - Missense(1)	p.G210R(2)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(628-630)Gga>Aga		Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.		C	ARG/GLY	2,3833		0,2,1630,571	112	108	109		628	3.7	1	X	dbSNP_134	109	0,6728		0,0,2428,1872	no	missense	CDR1	NM_004065.2	125	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	possibly-damaging	210/263	139865904	2,10561	2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865904C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.628G>A	X.37:g.139865904C>T	ENSP00000359563:p.Gly210Arg					AK054921_uc004fbf.1_Non-coding_Transcript	p.G210R	NM_004065	NP_004056	P51861	CDR1_HUMAN			0	820	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	210					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.628G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250435	0.39797	5.22E-4	0.0	ENSG00000184258	ENST00000370532	.	.	.	4.58	3.7	0.42460	.	.	.	.	.	T	0.32704	0.0838	N	0.08118	0	0.24558	N	0.993987	D	0.76494	0.999	D	0.63381	0.914	T	0.09509	-1.0671	7	.	.	.	.	8.8416	0.35146	0.0:0.8854:0.0:0.1146	.	210	P51861	CDR1_HUMAN	R	210	.	.	G	-	1	0	CDR1	139693570	0.061000	0.20836	0.970000	0.41538	0.193000	0.23685	0.177000	0.16801	2.181000	0.69327	0.422000	0.28245	GGA		0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		T	139865904	C	T	139865904	3	4	184	1	0	0	0	0	1	0	0	0	3171	661	23	2	164	2	CDR1	23	139865904	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	24283150	139865904	15404656	45	13039											
GJB3	2707	broad.mit.edu	37	chr1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcttcaatatgccgcGcctggtgcagtgtgccaacg	7	9	13	12	3	1	0	1	0	0	0	1	0	1	0	3	2	4	3	3	2	3	2	rs200055020		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:35250842G>A	ENST00000373366.2	+	2	1094	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_ENST00000373362.3_Missense_Mutation_p.R160H|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	160					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.R160H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													g|||	1	0.000199681	0	0.0014	5008	,	,		20625	0		0	False		,,,				2504	0					uc001bxz.4																			1	Substitution - Missense(1)	p.R160H(2)	endometrium(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15						c.(478-480)cGc>cAc		Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.			HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	152	162	159		479,479	5.1	1	1		159	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense	GJB3	NM_001005752.1,NM_024009.2	29,29	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	possibly-damaging,possibly-damaging	160/271,160/271	35250842	6,13000	2203	4300	6503	SO:0001583	missense	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250842G>A	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.479G>A	1.37:g.35250842G>A	ENSP00000362464:p.Arg160His					GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN			0	479	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	160					B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	c.479G>A	CCDS384.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	10.40	1.340688	0.24339	4.54E-4	4.65E-4	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.95656	-3.77;-3.77	5.07	5.07	0.68467	Gap junction protein, cysteine-rich domain (1);	0.109633	0.64402	N	0.000017	D	0.92176	0.7519	M	0.61703	1.905	0.47476	D	0.999435	P	0.38300	0.626	B	0.23574	0.047	D	0.91616	0.5307	10	0.36615	T	0.2	.	13.7745	0.63046	0.0:0.154:0.846:0.0	.	160	O75712	CXB3_HUMAN	H	160;160;144	ENSP00000362464:R160H;ENSP00000362460:R160H	ENSP00000362460:R160H	R	+	2	0	GJB3	35023429	1.000000	0.71417	0.997000	0.53966	0.019000	0.09904	7.821000	0.86641	2.368000	0.80403	0.556000	0.70494	CGC		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250842	G	A	35250842	3	1	185	1	0	0	0	0	1	0	0	0	6409	1087	38	1	481	1	GJB3	1	35250842	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		35250842	213999779	1	13040											
EPHA10	284656	broad.mit.edu	37	chr1	38227109	38227109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgctcctggaatcccGcgctgcagctgcagcggccc	6	5	11	19	4	0	0	0	0	0	0	2	1	2	1	4	2	4	5	4	2	1	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:38227109G>A	ENST00000373048.4	-	3	817	c.818C>T	c.(817-819)gCg>gTg	p.A273V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A273V|EPHA10_ENST00000319637.6_Missense_Mutation_p.A273V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	273					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAATCCCGCGCTGCAGCT	0.677																																						uc009vvi.3																			0		p.A273A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(817-819)gCg>gTg		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							36	39	38					1																	38227109		2163	4186	6349	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227109G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.818C>T	1.37:g.38227109G>A	ENSP00000362139:p.Ala273Val					EPHA10_uc001cbw.4_Missense_Mutation_p.A273V	p.A273V	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	904	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	273					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.818C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964911	0.74131	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	D;D;T	0.97529	-4.42;-4.42;4.28	4.23	4.23	0.50019	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.41500	D	0.000875	D	0.97266	0.9106	M	0.77486	2.375	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.50659	0.644;0.647	D	0.97787	1.0236	10	0.66056	D	0.02	.	16.1124	0.81273	0.0:0.0:1.0:0.0	.	273;273	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	V	273	ENSP00000397746:A273V;ENSP00000362139:A273V;ENSP00000316395:A273V	ENSP00000316395:A273V	A	-	2	0	EPHA10	37999696	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.352000	0.66028	2.328000	0.79073	0.551000	0.68910	GCG		0.677	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38227109	G	A	38227109	3	1	185	1	0	0	0	0	1	0	0	0	5166	1087	38	1	2306	1	EPHA10	1	38227109	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2976267	38227109	211023512	2	13041											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507363	74507363	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatatcactaaatgttcGgagtttcataccagctcttt	11	15	6	9	1	4	0	3	0	1	0	5	1	4	1	1	1	2	3	1	1	5	6			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:74507363G>A	ENST00000395089.1	-	6	1251	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	LRRIQ3_ENST00000354431.4_Nonsense_Mutation_p.R418*			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	418										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTAAATGTTCGGAGTTTCATA	0.363																																						uc001dfy.4																			0		p.L417L(1)|p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1252-1254)Cga>Tga		Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.							139	126	130					1																	74507363		1843	4079	5922	SO:0001587	stop_gained	127255							g.chr1:74507363G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1252C>T	1.37:g.74507363G>A	ENSP00000378524:p.Arg418*					LRRIQ3_uc001dfz.4_Intron	p.R418*	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			6	1444	-			418					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Nonsense_Mutation	SNP	ENST00000395089.1	37	c.1252C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704285	0.68615	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	.	.	.	5.77	-4.33	0.03677	.	1.149140	0.06593	N	0.752394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	9.5583	0.39353	0.0:0.2722:0.1921:0.5357	.	.	.	.	X	418	.	ENSP00000346414:R418X	R	-	1	2	LRRIQ3	74279951	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.209000	0.09358	-0.389000	0.07786	0.585000	0.79938	CGA		0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		A	74507363	G	A	74507363	4	1	185	1	0	0	0	0	0	1	0	0	9030	1124	39	2	630	2	LRRIQ3	1	74507363	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	36280254	74507363	174743258	3	13042											
NBPF9	0	broad.mit.edu	37	chr1	144615288	144615288	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccggcttcctggccaacCgacagaagaaatacagtaag	13	6	11	11	2	0	2	0	0	0	2	1	3	1	2	4	3	2	2	4	3	5	3			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:144615288C>T								RP11-640M9.2 (9397 upstream) : NBPF9 (196455 downstream)																							CCTGGCCAACCGACAGAAGAA	0.448																																						uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(154-156)Cga>Tga		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001628	intergenic_variant	400818							g.chr1:144615288C>T																													1.37:g.144615288C>T						NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	p.R52*	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	348	+	all_hematologic(923;0.032)		54						Nonsense_Mutation	SNP		37	c.154C>T																																																																																				0	0.448									T	144615288	C	T	144615288	1	4	185	0	1	0	0	0	0	0	0	0	10199	652	23	2		2	NBPF9	1	144615288	IGR	SNP	C	TCGA-27-1833-01A-01W-0643-08	70107925	144615288	104635333	4	13043											
ILDR2	387597	broad.mit.edu	37	chr1	166904584	166904584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgccaagggaggtggAtgcggcttgtccatcagcat	7	10	15	9	1	1	0	1	0	0	0	2	2	2	2	2	5	3	2	2	5	1	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:166904584A>T	ENST00000271417.3	-	6	889	c.834T>A	c.(832-834)caT>caA	p.H278Q	ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.H278Q|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.H259Q|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	278					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGGAGGTGGATGCGGCTTGT	0.617																																						uc001gdx.2																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(832-834)caT>caA		Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.							95	87	90					1																	166904584		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166904584A>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.834T>A	1.37:g.166904584A>T	ENSP00000271417:p.His278Gln						p.H278Q	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			5	890	-			278						Missense_Mutation	SNP	ENST00000271417.3	37	c.834T>A	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765428	0.31228	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071	T;T;T	0.54479	0.57;0.58;0.57	5.67	2.12	0.27331	.	0.243574	0.42420	D	0.000712	T	0.16514	0.0397	L	0.36672	1.1	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.08106	-1.0738	10	0.20519	T	0.43	-3.9366	2.4395	0.04490	0.5297:0.0:0.2582:0.2121	.	278	Q71H61	ILDR2_HUMAN	Q	278;278;259	ENSP00000271417:H278Q;ENSP00000437008:H278Q;ENSP00000436882:H259Q	ENSP00000271417:H278Q	H	-	3	2	ILDR2	165171208	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.614000	0.24314	0.949000	0.37715	0.459000	0.35465	CAT		0.617	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		T	166904584	A	T	166904584	3	4	185	1	0	0	0	0	1	0	0	0	7710	330	12	5	1105	5	ILDR2	1	166904584	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08	22289296	166904584	82346037	5	13044											
CPS1	1373	broad.mit.edu	37	chr2	211481222	211481222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttttgtataagatgCgtgatattttaaacatggaa	13	16	10	2	1	0	2	0	1	0	1	0	3	0	3	0	2	2	2	0	2	6	7	rs148519116		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:211481222C>T	ENST00000233072.5	+	21	2840	c.2644C>T	c.(2644-2646)Cgt>Tgt	p.R882C	CPS1_ENST00000451903.2_Missense_Mutation_p.R431C|CPS1_ENST00000430249.2_Missense_Mutation_p.R888C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	882					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTATAAGATGCGTGATATTTT	0.408																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2662-2664)Cgt>Tgt		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	159	159	159		2662,1291,2644	4.6	1	2	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	888/1507,431/1050,882/1501	211481222	1,13005	2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211481222C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2644C>T	2.37:g.211481222C>T	ENSP00000233072:p.Arg882Cys					CPS1_uc002vee.4_Missense_Mutation_p.R882C|CPS1_uc010fus.3_Missense_Mutation_p.R431C|CPS1-IT1_uc002vef.3_5'Flank	p.R888C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2744	+			882					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2662C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945930	0.73672	0.0	1.16E-4	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96802	-4.13;-4.13;-4.13	5.52	4.63	0.57726	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.232221	0.45867	D	0.000326	D	0.97374	0.9141	M	0.77712	2.385	0.48135	D	0.999598	D;D	0.76494	0.999;0.999	P;P	0.56916	0.809;0.809	D	0.97812	1.0251	10	0.87932	D	0	-17.2182	15.883	0.79216	0.1366:0.8634:0.0:0.0	.	892;882	Q59HF8;P31327	.;CPSM_HUMAN	C	888;890;882;431	ENSP00000402608:R888C;ENSP00000233072:R882C;ENSP00000406136:R431C	ENSP00000233072:R882C	R	+	1	0	CPS1	211189467	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.783000	0.47766	1.426000	0.47256	0.655000	0.94253	CGT		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211481222	C	T	211481222	3	4	185	1	0	0	0	0	1	0	0	0	3823	768	27	1	2748	1	CPS1	2	211481222	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		211481222	31718151	6	13045											
NCL	4691	broad.mit.edu	37	chr2	232326477	232326477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctttgcccccttggctggGatggcagcacccttcttacc	4	13	9	15	0	2	0	0	0	2	0	2	1	2	1	4	3	3	3	4	3	1	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:232326477G>T	ENST00000322723.4	-	3	627	c.387C>A	c.(385-387)atC>atA	p.I129I	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	129	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCTTGGCTGGGATGGCAGCAC	0.532																																						uc002vru.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(385-387)atC>atA		Homo sapiens nucleolin (NCL), mRNA.							341	241	275					2																	232326477		2203	4300	6503	SO:0001819	synonymous_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326477G>T		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.387C>A	2.37:g.232326477G>T						SNORD82_uc010fxw.1_5'Flank	p.I129I	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	2	528	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	129			8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	c.387C>A	CCDS33397.1																																																																																				0.532	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		T	232326477	G	T	232326477	2	4	185	1	0	0	0	0	0	0	0	1	10226	1164	41	5		5	NCL	2	232326477	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	20845255	232326477	10872896	7	13046											
SH3BP4	23677	broad.mit.edu	37	chr2	235950763	235950763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctggagccctgtatgtaCgtggctgtcgtggcccatgg	6	10	14	11	2	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	3	2	rs201095699		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:235950763C>T	ENST00000409212.1	+	4	1857	c.1350C>T	c.(1348-1350)taC>taT	p.Y450Y	SH3BP4_ENST00000392011.2_Silent_p.Y450Y|SH3BP4_ENST00000344528.4_Silent_p.Y450Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	450					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTGTATGTACGTGGCTGTCG	0.577													C|||	1	0.000199681	0	0	5008	,	,		18541	0.001		0	False		,,,				2504	0					uc002vvp.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1348-1350)taC>taT		Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.		C		0,4406		0,0,2203	53	49	50		1350	4.7	1	2		50	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SH3BP4	NM_014521.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		450/964	235950763	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950763C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1350C>T	2.37:g.235950763C>T						SH3BP4_uc010fym.3_Silent_p.Y450Y|SH3BP4_uc002vvq.3_Silent_p.Y450Y	p.Y450Y	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	1743	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	450					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.1350C>T	CCDS2513.1																																																																																				0.577	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235950763	C	T	235950763	2	4	185	1	0	0	0	0	0	0	0	1	14246	547	19	1		1	SH3BP4	2	235950763	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	3624286	235950763	7248610	8	13047											
D2HGDH	728294	broad.mit.edu	37	chr2	242683167	242683167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggaaacgtggcaaccaaCgctggaggcctgcggtttct	8	7	16	10	3	1	0	0	0	1	0	1	2	1	2	2	6	4	3	2	6	3	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:242683167C>T	ENST00000321264.4	+	5	830	c.621C>T	c.(619-621)aaC>aaT	p.N207N	D2HGDH_ENST00000342518.6_Silent_p.N207N|D2HGDH_ENST00000537090.1_Silent_p.N207N|D2HGDH_ENST00000403782.1_Silent_p.N73N	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	207	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGCAACCAACGCTGGAGGCC	0.617																																						uc002wce.1																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(619-621)aaC>aaT		Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.							55	49	51					2																	242683167		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242683167C>T	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.621C>T	2.37:g.242683167C>T						D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.N73N|D2HGDH_uc002wcg.1_Non-coding_Transcript	p.N207N	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	794	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	207			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.621C>T	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102153	0.37048	.	.	ENSG00000180902	ENST00000417686	.	.	.	5.15	-9.44	0.00603	.	.	.	.	.	T	0.64843	0.2635	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73579	-0.3938	4	.	.	.	.	18.7541	0.91826	0.0:0.2568:0.0:0.7432	.	.	.	.	C	49	.	.	R	+	1	0	D2HGDH	242331840	0.000000	0.05858	0.060000	0.19600	0.607000	0.37147	-2.323000	0.01117	-1.917000	0.01074	0.462000	0.41574	CGC		0.617	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		T	242683167	C	T	242683167	2	4	185	1	0	0	0	0	0	0	0	1	4213	535	19	1		1	D2HGDH	2	242683167	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	6732404	242683167	516206	9	13048											
CNTN6	27255	broad.mit.edu	37	chr3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcggtctgaactcGtcattacgtgggaggtaatt	10	11	14	6	3	2	1	1	1	1	0	4	4	2	3	0	4	2	1	0	4	4	3	rs140014929		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373																																						uc003boz.3																			2	Substitution - Missense(2)	p.V718I(4)	large_intestine(1)|pancreas(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2152-2154)Gtc>Atc		Homo sapiens contactin 6 (CNTN6), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	188	178	182		2152	-0.1	1	3	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	718/1029	1418745	2,13004	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418745G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2152G>A	3.37:g.1418745G>A	ENSP00000407822:p.Val718Ile					CNTN6_uc011asj.2_Missense_Mutation_p.V646I|CNTN6_uc003bpa.3_Missense_Mutation_p.V718I	p.V718I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2419	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	718			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2152G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392335	0.42410	2.27E-4	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53857	0.6;0.6;0.6	5.76	-0.13	0.13498	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.235772	0.29684	N	0.011465	T	0.40372	0.1114	L	0.43152	1.355	0.44395	D	0.997306	B	0.15930	0.015	B	0.10450	0.005	T	0.20405	-1.0276	10	0.32370	T	0.25	.	11.0846	0.48080	0.3437:0.0:0.6563:0.0	.	718	Q9UQ52	CNTN6_HUMAN	I	718;646;718	ENSP00000407822:V718I;ENSP00000442791:V646I;ENSP00000341882:V718I	ENSP00000341882:V718I	V	+	1	0	CNTN6	1393745	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.636000	0.54317	0.098000	0.17522	0.655000	0.94253	GTC		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		A	1418745	G	A	1418745	3	1	185	1	0	0	0	0	1	0	0	0	3645	1145	40	1	2214	1	CNTN6	3	1418745	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		1418745	196603685	10	13049											
CYP8B1	1582	broad.mit.edu	37	chr3	42916827	42916827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcctcatgccagcaactgGcatccagactccagcctttg	8	10	8	15	0	1	1	1	0	0	1	4	1	4	1	5	1	4	2	5	1	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:42916827G>A	ENST00000316161.4	-	1	806	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CYP8B1_ENST00000437102.1_Missense_Mutation_p.A161V|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	161					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGCAACTGGCATCCAGACT	0.522																																						uc003cmh.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(481-483)gCc>gTc		Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.							84	77	79					3																	42916827		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916827G>A	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.482C>T	3.37:g.42916827G>A	ENSP00000318867:p.Ala161Val					CCBP2_uc003cmg.3_Intron	p.A161V	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	0	807	-			161					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.482C>T	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704017	0.30232	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.66815	-0.23;-0.23	5.03	3.06	0.35304	.	0.731043	0.13175	N	0.407974	T	0.65709	0.2717	L	0.58101	1.795	0.09310	N	1	P;B	0.41188	0.741;0.436	B;B	0.43018	0.405;0.315	T	0.53351	-0.8451	10	0.36615	T	0.2	-10.2214	12.3238	0.54999	0.0:0.0:0.3467:0.6533	.	161;161	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	V	161	ENSP00000404499:A161V;ENSP00000318867:A161V	ENSP00000318867:A161V	A	-	2	0	CYP8B1	42891831	0.563000	0.26594	0.001000	0.08648	0.333000	0.28666	2.269000	0.43346	0.542000	0.28846	0.555000	0.69702	GCC		0.522	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		A	42916827	G	A	42916827	3	1	185	1	0	0	0	0	1	0	0	0	4198	1203	42	3	1027	3	CYP8B1	3	42916827	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	41498082	42916827	155105603	11	13050											
WHSC1	7468	broad.mit.edu	37	chr4	1955109	1955109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgttaagcgctgtgtggtAactcagtgtggaaaatttta	11	14	12	4	1	1	0	1	0	0	0	1	2	1	1	0	2	2	3	0	2	5	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr4:1955109A>G	ENST00000382895.3	+	14	2627	c.2196A>G	c.(2194-2196)gtA>gtG	p.V732V	WHSC1_ENST00000382891.5_Silent_p.V732V|WHSC1_ENST00000508803.1_Silent_p.V732V|WHSC1_ENST00000382888.3_Silent_p.V80V|WHSC1_ENST00000382892.2_Silent_p.V732V|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	732					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCTGTGTGGTAACTCAGTGTG	0.458			T	IGH@	MM																																	uc003gdz.4				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2194-2196)gtA>gtG		Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.							148	153	151					4																	1955109		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1955109A>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2196A>G	4.37:g.1955109A>G						WHSC1_uc003geb.4_Silent_p.V732V|WHSC1_uc003gec.4_Silent_p.V732V|WHSC1_uc003ged.4_Silent_p.V732V|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_5'UTR|WHSC1_uc011bvh.2_5'UTR|WHSC1_uc010icf.3_Silent_p.V80V	p.V732V	NM_001042424	NP_579890	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	11	2372	+		all_epithelial(65;1.34e-05)	732					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.2196A>G	CCDS33940.1																																																																																				0.458	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		G	1955109	A	G	1955109	2	3	185	1	0	0	0	0	0	0	0	1	17359	349	13	4		4	WHSC1	4	1955109	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08		1955109	189199167	12	13051											
PAM	5066	broad.mit.edu	37	chr5	102360910	102360911	+	Frame_Shift_Del	DEL	AG	AG	-																															gcagaagatgcaagagaaacAgaaactgatcaaagagccag																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr5:102360910_102360911delAG	ENST00000438793.3	+	23	3031_3032	c.2561_2562delAG	c.(2560-2562)cagfs	p.Q854fs	PAM_ENST00000304400.7_Frame_Shift_Del_p.Q854fs|PAM_ENST00000346918.2_Intron|PAM_ENST00000455264.2_Intron|PAM_ENST00000274392.9_Frame_Shift_Del_p.Q756fs|PAM_ENST00000348126.2_Frame_Shift_Del_p.Q747fs|PAM_ENST00000379787.4_Frame_Shift_Del_p.Q234fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	854					central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAAGAGAAACAGAAACTGATCA	0.46																																						uc003knt.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2560-2562)cagfs		Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102360910_102360911delAG	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2561_2562delAG	5.37:g.102360910_102360911delAG	ENSP00000396493:p.Gln854fs					PAM_uc003knw.3_Frame_Shift_Del_p.Q854fs|PAM_uc003kns.3_Frame_Shift_Del_p.Q747fs|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Frame_Shift_Del_p.Q756fs|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Frame_Shift_Del_p.Q94fs	p.Q854fs	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	22	2934_2935	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	854					A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Del	DEL	ENST00000438793.3	37	c.2561_2562delAG	CCDS54885.1																																																																																				0.46	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		-	102360911	AG	-	102360910	7	5	185	1	0	1	0	1	0	0	0	0	11412	188	7	0	2651	0	PAM	5	102360910	Frame_Shift_Del	DEL	AG	TCGA-27-1833-01A-01W-0643-08		102360910	78554350	13	13052											
PKHD1	5314	broad.mit.edu	37	chr6	51523917	51523917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctccttactgttggCgaatcaccaatttcaatgac	10	12	7	12	1	2	1	2	1	0	0	3	2	3	1	3	1	2	2	3	1	4	3	rs142855690		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:51523917C>T	ENST00000371117.3	-	61	11282	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3669					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423													c|||	1	0.000199681	0	0	5008	,	,		20393	0		0.001	False		,,,				2504	0					uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11005-11007)tcG>tcA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G		0,4406		0,0,2203	173	159	164		11007	-3.1	0	6	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PKHD1	NM_138694.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3669/4075	51523917	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51523917C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11007G>A	6.37:g.51523917C>T							p.S3669S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			60	11283	-	Lung NSC(77;0.0605)		3669					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11007G>A	CCDS4935.1																																																																																				0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51523917	C	T	51523917	2	4	185	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51523917	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08		51523917	119591150	14	13053											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912560	111912560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgtgcacatgctggatAcctctgaggttcaaactgag	10	11	10	10	0	3	2	1	2	2	0	3	3	3	3	1	2	4	3	1	2	2	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:111912560A>G	ENST00000340026.6	-	3	1351	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Y244H|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.Y244H|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	253	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CATGCTGGATACCTCTGAGGT	0.572																																						uc011ebc.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(730-732)Tat>Cat		Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.							91	87	88					6																	111912560		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912560A>G	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.757T>C	6.37:g.111912560A>G	ENSP00000345984:p.Tyr253His					TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.Y244H	p.Y244H	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	1345	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	253					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.730T>C		.	.	.	.	.	.	.	.	.	.	A	8.004	0.755960	0.15846	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.35236	1.33;1.33;1.32	5.84	3.44	0.39384	.	0.251301	0.35235	N	0.003345	T	0.11922	0.0290	L	0.46157	1.445	0.26981	N	0.96536	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.21143	-1.0254	10	0.20046	T	0.44	23.2443	9.2203	0.37373	0.7933:0.0:0.2067:0.0	.	253;244;244	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	H	253;244;253;244	ENSP00000357750:Y244H;ENSP00000345984:Y253H;ENSP00000352889:Y244H	ENSP00000345984:Y253H	Y	-	1	0	TRAF3IP2	112019253	0.640000	0.27243	0.321000	0.25320	0.734000	0.41952	2.032000	0.41127	1.041000	0.40125	0.454000	0.30748	TAT		0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			G	111912560	A	G	111912560	3	3	185	1	0	0	0	0	1	0	0	0	16438	391	14	4	999	4	TRAF3IP2	6	111912560	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08	60388643	111912560	59202507	15	13054											
PON1	5444	broad.mit.edu	37	chr7	94953757	94953757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagagtgccagtcccatccCcaagagggtgagcgcaatca	12	5	12	12	1	1	3	1	1	0	2	3	4	3	3	4	1	2	1	4	1	3	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:94953757C>A	ENST00000222381.3	-	1	262	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	11					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	AGTCCCATCCCCAAGAGGGTG	0.607																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(31-33)Ggg>Tgg		Homo sapiens paraoxonase 1 (PON1), mRNA.	Atorvastatin(DB01076)|Cefazolin(DB01327)						138	100	113					7																	94953757		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94953757C>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.31G>T	7.37:g.94953757C>A	ENSP00000222381:p.Gly11Trp					PON1_uc011kih.2_Intron	p.G11W	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		0	128	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		11					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.31G>T	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485207	0.26598	.	.	ENSG00000005421	ENST00000222381	T	0.56275	0.47	4.31	3.43	0.39272	Six-bladed beta-propeller, TolB-like (1);	0.335734	0.30501	N	0.009486	T	0.69387	0.3105	M	0.80746	2.51	0.27421	N	0.954286	D	0.76494	0.999	D	0.78314	0.991	T	0.62134	-0.6918	10	0.87932	D	0	-4.9952	8.5503	0.33447	0.0:0.8963:0.0:0.1037	.	11	P27169	PON1_HUMAN	W	11	ENSP00000222381:G11W	ENSP00000222381:G11W	G	-	1	0	PON1	94791693	0.849000	0.29639	0.207000	0.23584	0.072000	0.16883	1.882000	0.39648	1.413000	0.46997	0.555000	0.69702	GGG		0.607	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		A	94953757	C	A	94953757	3	1	185	1	0	0	0	0	1	0	0	0	12248	623	22	5	1072	5	PON1	7	94953757	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		94953757	64184906	16	13055											
TRRAP	8295	broad.mit.edu	37	chr7	98580929	98580935	+	Frame_Shift_Del	DEL	AACGCAG	AACGCAG	-																															tccaggaagctgcacaaatcAacgcaggcttacagccaacc																								rs537483764		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:98580929_98580935delAACGCAG	ENST00000359863.4	+	59	9057_9063	c.8848_8854delAACGCAG	c.(8848-8856)aacgcaggcfs	p.NAG2950fs	TRRAP_ENST00000355540.3_Frame_Shift_Del_p.NAG2932fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.NAG2932fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2950	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACAAATCAACGCAGGCTTACAGCC	0.522																																						uc003upp.3																			0		p.T2951A(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8848-8856)aacgcaggcfs		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98580929_98580935delAACGCAG	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8848_8854delAACGCAG	7.37:g.98580929_98580935delAACGCAG	ENSP00000352925:p.Asn2950fs					TRRAP_uc011kis.2_Frame_Shift_Del_p.N2932fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.N2649fs	p.N2950fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		58	9057_9063	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2950			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Del	DEL	ENST00000359863.4	37	c.8848_8854delAACGCAG	CCDS59066.1																																																																																				0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		-	98580935	AACGCAG	-	98580929	7	5	185	1	0	1	0	1	0	0	0	0	16598	130	5	0	9020	0	TRRAP	7	98580929	Frame_Shift_Del	DEL	AACGCAG	TCGA-27-1833-01A-01W-0643-08	3627172	98580929	60557734	17	13056											
PIK3CG	5294	broad.mit.edu	37	chr7	106513286	106513286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcacagccatgctgcaCgactttacccaacaagtcca	11	8	8	14	1	0	0	0	0	0	0	1	1	1	0	3	1	5	3	3	1	3	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:106513286C>T	ENST00000359195.3	+	4	2500	c.2190C>T	c.(2188-2190)caC>caT	p.H730H	PIK3CG_ENST00000440650.2_Silent_p.H730H|PIK3CG_ENST00000496166.1_Silent_p.H730H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	730					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGCTGCACGACTTTACCC	0.473																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2188-2190)caC>caT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							119	115	117					7																	106513286		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513286C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2190C>T	7.37:g.106513286C>T						PIK3CG_uc003vdu.3_Silent_p.H730H|PIK3CG_uc003vdw.3_Silent_p.H730H	p.H730H	NM_002649	NP_002640	P48736	PK3CG_HUMAN			3	2275	+			730					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2190C>T	CCDS5739.1																																																																																				0.473	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106513286	C	T	106513286	2	4	185	1	0	0	0	0	0	0	0	1	11916	535	19	1		1	PIK3CG	7	106513286	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	7932357	106513286	52625377	18	13057											
AKR1B15	441282	broad.mit.edu	37	chr7	134260192	134260192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggaggagctggtggaCgaggggctggtgaaagccct	8	6	19	8	1	0	1	0	1	0	0	0	5	0	4	2	7	2	2	2	7	1	0	rs4035285		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:134260192C>T	ENST00000457545.2	+	7	794	c.534C>T	c.(532-534)gaC>gaT	p.D178D	AKR1B15_ENST00000423958.1_Silent_p.D150D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	178							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGCTGGTGGACGAGGGGCTGG	0.517																																						uc011kpr.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(532-534)gaC>gaT		Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.							61	64	63					7																	134260192		2203	4300	6503	SO:0001819	synonymous_variant	441282						oxidoreductase activity	g.chr7:134260192C>T		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.534C>T	7.37:g.134260192C>T							p.D178D	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			6	833	+			178					C9J3V2	Silent	SNP	ENST00000457545.2	37	c.534C>T	CCDS47715.2																																																																																				0.517	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			T	134260192	C	T	134260192	2	4	185	1	0	0	0	0	0	0	0	1	468	535	19	1		1	AKR1B15	7	134260192	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	27746906	134260192	24878471	19	13058											
MLL3	58508	broad.mit.edu	37	chr7	151877846	151877846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catatttacagtattctgtgTatcagttactcctgaagttg	10	17	7	7	0	2	1	1	1	1	0	3	1	3	1	1	0	2	4	1	0	6	8			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:151877846T>C	ENST00000262189.6	-	36	7317	c.7099A>G	c.(7099-7101)Aca>Gca	p.T2367A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T2367A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2367					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTATTCTGTGTATCAGTTACT	0.428																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(7099-7101)Aca>Gca		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							77	73	75					7																	151877846		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151877846T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7099A>G	7.37:g.151877846T>C	ENSP00000262189:p.Thr2367Ala					MLL3_uc003wkz.3_Missense_Mutation_p.T1428A|MLL3_uc003wky.3_5'Flank	p.T2367A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	7318	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2367					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7099A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336467	0.24253	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82433	-1.61;-1.6	5.11	3.96	0.45880	.	0.304193	0.22950	N	0.053676	T	0.74635	0.3742	L	0.57536	1.79	0.46654	D	0.999149	P;P	0.46859	0.469;0.885	B;B	0.40066	0.185;0.318	T	0.70270	-0.4918	10	0.08599	T	0.76	.	8.0787	0.30731	0.0:0.1558:0.0:0.8442	.	2367;1428	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	2367	ENSP00000262189:T2367A;ENSP00000347325:T2367A	ENSP00000262189:T2367A	T	-	1	0	MLL3	151508779	0.901000	0.30685	0.108000	0.21378	0.691000	0.40173	1.165000	0.31822	0.908000	0.36671	0.528000	0.53228	ACA		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151877846	T	C	151877846	3	2	185	1	0	0	0	0	1	0	0	0	9622	1638	57	4	7732	4	MLL3	7	151877846	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	17617654	151877846	7260817	20	13059											
FLJ43860	389690	broad.mit.edu	37	chr8	142476586	142476586	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccagcagggtgatggcGtgcagggtcttttccttggc	4	10	17	10	2	1	1	0	1	1	0	2	1	2	1	2	5	2	2	2	5	0	3			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:142476586G>A	ENST00000430863.1	-	0	2480					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GGGTGATGGCGTGCAGGGTCT	0.632																																						uc003ywi.2																			0											c.(2398-2400)caC>caT		Homo sapiens FLJ43860 protein (FLJ43860), mRNA.							72	85	81					8																	142476586		2147	4237	6384			389690						binding	g.chr8:142476586G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476586G>A						FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	p.H800H	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		18	2481	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		800						Silent	SNP	ENST00000430863.1	37	c.2400C>T																																																																																					0.632	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		A	142476586	G	A	142476586	1	1	185	0	1	0	0	0	0	0	0	0	5930	1136	40	1		1	FLJ43860	8	142476586	RNA	SNP	G	TCGA-27-1833-01A-01W-0643-08		142476586	3887436	21	13060											
HSF1	3297	broad.mit.edu	37	chr8	145537533	145537533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcccctcggtgaccgtgCccgacatgagcctgcctgac	6	7	11	17	3	1	3	1	3	0	0	2	4	1	3	6	1	4	0	6	1	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:145537533C>T	ENST00000528838.1	+	11	1433	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Intron|HSF1_ENST00000528842.1_3'UTR|DGAT1_ENST00000527438.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	425	Transactivation domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGACCGTGCCCGACATGAG	0.716																																						uc003zbt.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(1273-1275)Ccc>Tcc		Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.							44	47	46					8																	145537533		2201	4297	6498	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145537533C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1273C>T	8.37:g.145537533C>T	ENSP00000431512:p.Pro425Ser					HSF1_uc003zbu.4_Non-coding_Transcript	p.P425S	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		10	1443	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		425			Transactivation domain.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.1273C>T	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.930755	0.00488	.	.	ENSG00000185122	ENST00000528838	.	.	.	4.75	2.76	0.32466	Vertebrate heat shock transcription factor (1);	0.592725	0.16725	N	0.202102	T	0.19765	0.0475	N	0.04959	-0.14	0.20196	N	0.999927	B	0.18310	0.027	B	0.23419	0.046	T	0.18429	-1.0337	9	0.07175	T	0.84	-17.0638	11.439	0.50086	0.3362:0.6638:0.0:0.0	.	425	Q00613	HSF1_HUMAN	S	425	.	ENSP00000431512:P425S	P	+	1	0	HSF1	145508341	0.527000	0.26306	0.037000	0.18230	0.003000	0.03518	1.173000	0.31920	1.200000	0.43188	-0.188000	0.12872	CCC		0.716	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		T	145537533	C	T	145537533	3	4	185	1	0	0	0	0	1	0	0	0	7395	739	26	3	1315	3	HSF1	8	145537533	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	3060947	145537533	826489	22	13061											
EXD3	54932	broad.mit.edu	37	chr9	140201615	140201615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagccgggtgccgtcGgccagcatgtccggtgtctc	4	8	15	14	4	1	0	0	0	1	0	4	0	2	0	4	3	5	3	4	3	0	0	rs558615597		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr9:140201615G>A	ENST00000340951.4	-	22	2613	c.2418C>T	c.(2416-2418)gcC>gcT	p.A806A	EXD3_ENST00000342129.4_Silent_p.A444A	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGTGCCGTCGGCCAGCATGT	0.697																																						uc004cmp.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2416-2418)gcC>gcT		Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.							10	13	12					9																	140201615		1995	4163	6158	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140201615G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2418C>T	9.37:g.140201615G>A						EXD3_uc010ncf.1_Silent_p.A444A	p.A806A	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			21	2614	-			806					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.2418C>T	CCDS48066.1																																																																																				0.697	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		A	140201615	G	A	140201615	2	1	185	1	0	0	0	0	0	0	0	1	5299	1103	39	2		2	EXD3	9	140201615	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		140201615	1011816	23	13062											
MPP7	143098	broad.mit.edu	37	chr10	28345469	28345469	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctttgcattttttctTgtttctctcaaacgctctat	8	21	3	9	1	5	0	1	0	4	0	6	0	5	0	0	0	2	3	0	0	3	8			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:28345469T>C	ENST00000375732.1	-	16	1750	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	MPP7_ENST00000375719.3_Silent_p.T497T|MPP7_ENST00000337532.5_Silent_p.T497T|MPP7_ENST00000540098.1_Silent_p.T497T			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	497	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CATTTTTTCTTGTTTCTCTCA	0.403																																						uc001iua.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1489-1491)acA>acG		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.							202	195	197					10																	28345469		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28345469T>C	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1491A>G	10.37:g.28345469T>C						MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.T497T|MPP7_uc009xla.2_Silent_p.T497T|MPP7_uc010qdv.1_Non-coding_Transcript	p.T497T	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			17	1895	-			497			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1491A>G	CCDS7158.1																																																																																				0.403	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		C	28345469	T	C	28345469	2	2	185	1	0	0	0	0	0	0	0	1	9739	1799	63	4		4	MPP7	10	28345469	Silent	SNP	T	TCGA-27-1833-01A-01W-0643-08		28345469	107189278	24	13063											
OGDHL	55753	broad.mit.edu	37	chr10	50943387	50943387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagccgctgggtcccGgccaacatacctggaggagg	7	6	16	12	2	0	0	0	0	0	0	1	2	1	2	4	6	4	2	4	6	2	1	rs534879619		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:50943387G>A	ENST00000374103.4	-	23	3005	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.R917W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R765W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	974					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGGGTCCCGGCCAACATAC	0.622													G|||	1	0.000199681	0	0	5008	,	,		11056	0.001		0	False		,,,				2504	0					uc009xog.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(3001-3003)Cgg>Tgg		Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							72	75	74					10																	50943387		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50943387G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2920C>T	10.37:g.50943387G>A	ENSP00000363216:p.Arg974Trp					OGDHL_uc001jie.3_Missense_Mutation_p.R974W|OGDHL_uc010qgt.2_Missense_Mutation_p.R917W|OGDHL_uc010qgu.2_Missense_Mutation_p.R765W	p.R1001W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN			21	3035	-			974					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.3001C>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757346	0.89843	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.12879	2.64;2.64;2.64	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76334	-0.2997	10	0.87932	D	0	.	18.7651	0.91869	0.0:0.0:1.0:0.0	.	917;765;974	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	W	974;917;765	ENSP00000363216:R974W;ENSP00000401356:R917W;ENSP00000390240:R765W	ENSP00000363216:R974W	R	-	1	2	OGDHL	50613393	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.195000	0.77798	2.515000	0.84797	0.655000	0.94253	CGG		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		A	50943387	G	A	50943387	3	1	185	1	0	0	0	0	1	0	0	0	10840	1115	39	2	116	2	OGDHL	10	50943387	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	22597918	50943387	84591360	25	13064											
A1CF	29974	broad.mit.edu	37	chr10	52596064	52596064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaaacccctaagaggCgcccatttctgcaaaaagag	14	6	9	12	1	1	2	0	0	1	2	1	2	1	2	3	2	2	2	3	2	4	2	rs148254279		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:52596064C>T	ENST00000373993.1	-	4	418	c.374G>A	c.(373-375)cGc>cAc	p.R125H	A1CF_ENST00000373995.3_Missense_Mutation_p.R133H|A1CF_ENST00000395489.2_Missense_Mutation_p.R118H|A1CF_ENST00000282641.2_Missense_Mutation_p.R125H|A1CF_ENST00000373997.3_Missense_Mutation_p.R125H|A1CF_ENST00000374001.2_Missense_Mutation_p.R125H|A1CF_ENST00000395495.1_Missense_Mutation_p.R125H			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	125	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCCTAAGAGGCGCCCATTTCT	0.438																																						uc001jjj.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(373-375)cGc>cAc		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	53	54	54		374,398,398,374,374,398	5.9	1	10	dbSNP_134	54	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	A1CF	NM_001198818.1,NM_001198819.1,NM_001198820.1,NM_014576.3,NM_138932.2,NM_138933.2	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	125/587,133/603,133/595,125/587,125/595,133/595	52596064	1,13005	2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52596064C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.374G>A	10.37:g.52596064C>T	ENSP00000363105:p.Arg125His					A1CF_uc010qho.2_Missense_Mutation_p.R133H|A1CF_uc010qhn.2_Missense_Mutation_p.R133H|A1CF_uc009xov.3_Missense_Mutation_p.R125H|A1CF_uc001jji.3_Missense_Mutation_p.R125H|A1CF_uc001jjh.3_Missense_Mutation_p.R133H	p.R125H	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			5	562	-			125			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.374G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116059	0.77323	2.27E-4	0.0	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;3.0;0.6;3.0;3.0;3.0	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.66939	2.045	0.80722	D	1	D;P;D;P	0.89917	0.972;0.784;1.0;0.937	B;P;D;B	0.87578	0.445;0.458;0.998;0.248	T	0.72017	-0.4417	10	0.59425	D	0.04	-5.8377	17.8605	0.88779	0.0:1.0:0.0:0.0	.	118;125;125;133	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	H	125;125;125;133;125;125;108;118;125	ENSP00000363113:R125H;ENSP00000363105:R125H;ENSP00000363109:R125H;ENSP00000363107:R133H;ENSP00000282641:R125H;ENSP00000378873:R125H;ENSP00000378868:R118H;ENSP00000397953:R125H	ENSP00000282641:R125H	R	-	2	0	A1CF	52266070	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.731000	0.84895	2.814000	0.96858	0.563000	0.77884	CGC		0.438	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		T	52596064	C	T	52596064	3	4	185	1	0	0	0	0	1	0	0	0	2	768	27	1	1442	1	A1CF	10	52596064	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	1652677	52596064	82938683	26	13065											
CNNM1	26507	broad.mit.edu	37	chr10	101147663	101147663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggaggccttcacagaCggggactccactaaggcccc	10	5	12	14	1	1	1	1	0	0	1	2	4	2	3	4	5	0	0	4	5	1	2	rs532479735		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:101147663C>T	ENST00000356713.4	+	8	2716	c.2427C>T	c.(2425-2427)gaC>gaT	p.D809D	CNNM1_ENST00000446890.1_Silent_p.D738D|CNNM1_ENST00000370528.3_Silent_p.D738D|CNNM1_ENST00000370534.4_Silent_p.D465D	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	809					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.D444D(1)|p.D809D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCACAGACGGGGACTCCA	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		20228	0		0	False		,,,				2504	0					uc010qpi.2																			2	Substitution - coding silent(2)	p.D444D(1)|p.D809D(1)	endometrium(2)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2488-2490)gaC>gaT		Homo sapiens cyclin M1 (CNNM1), mRNA.							63	56	59					10																	101147663		2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101147663C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2427C>T	10.37:g.101147663C>T						CNNM1_uc001kpp.4_Silent_p.D809D|CNNM1_uc009xwf.3_Silent_p.D809D|CNNM1_uc009xwg.3_Silent_p.D209D	p.D830D	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	8	2779	+		Colorectal(252;0.234)	809					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.2490C>T	CCDS7478.2																																																																																				0.602	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		T	101147663	C	T	101147663	2	4	185	1	0	0	0	0	0	0	0	1	3612	535	19	1		1	CNNM1	10	101147663	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	48551599	101147663	34387084	27	13066											
DCHS1	8642	broad.mit.edu	37	chr11	6654846	6654846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaccacagaattggccCgtctggccaagggccaggct	8	6	13	14	1	1	1	0	0	1	1	1	1	1	1	4	4	1	3	4	4	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:6654846C>T	ENST00000299441.3	-	5	2663	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	751	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTGGCCCGTCTGGCCAA	0.547																																						uc001mem.1																			0		p.R751W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2251-2253)cGg>cAg		Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.							26	23	24					11																	6654846		2201	4295	6496	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6654846C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2252G>A	11.37:g.6654846C>T	ENSP00000299441:p.Arg751Gln						p.R751Q	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2653	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	751			Cadherin 7.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2252G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511033	0.64522	.	.	ENSG00000166341	ENST00000299441	T	0.50813	0.73	5.37	2.27	0.28462	Cadherin (4);Cadherin-like (1);	0.358932	0.20396	N	0.093146	T	0.48874	0.1524	L	0.33137	0.985	0.29084	N	0.882504	D	0.76494	0.999	D	0.63877	0.919	T	0.37865	-0.9687	10	0.46703	T	0.11	.	6.4333	0.21809	0.0:0.5971:0.0:0.4029	.	751	Q96JQ0	PCD16_HUMAN	Q	751	ENSP00000299441:R751Q	ENSP00000299441:R751Q	R	-	2	0	DCHS1	6611422	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.936000	0.48971	0.650000	0.30769	0.561000	0.74099	CGG		0.547	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6654846	C	T	6654846	3	4	185	1	0	0	0	0	1	0	0	0	4287	652	23	2	7712	2	DCHS1	11	6654846	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		6654846	128351670	28	13067											
OR4C6	219432	broad.mit.edu	37	chr11	55432767	55432767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtgctggaaaatctacTtattgtggtaactattatca	13	14	7	7	0	2	0	1	0	1	0	2	1	2	1	0	2	3	2	0	2	7	6			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:55432767T>A	ENST00000314259.3	+	1	154	c.125T>A	c.(124-126)cTt>cAt	p.L42H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAAAATCTACTTATTGTGGTA	0.393																																						uc010rik.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(124-126)cTt>cAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.							257	231	240					11																	55432767		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432767T>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.125T>A	11.37:g.55432767T>A	ENSP00000324769:p.Leu42His						p.L42H	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			0	125	+			42					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.125T>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709911	0.48517	.	.	ENSG00000181903	ENST00000314259	T	0.02890	4.12	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.243616	0.21022	N	0.081484	T	0.18882	0.0453	H	0.96015	3.755	0.09310	N	1	D	0.58620	0.983	P	0.58577	0.841	T	0.18745	-1.0327	10	0.87932	D	0	.	11.4815	0.50328	0.0:0.0:0.0:1.0	.	42	Q8NH72	OR4C6_HUMAN	H	42	ENSP00000324769:L42H	ENSP00000324769:L42H	L	+	2	0	OR4C6	55189343	0.000000	0.05858	0.122000	0.21767	0.008000	0.06430	-0.219000	0.09228	1.387000	0.46486	0.444000	0.29173	CTT		0.393	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		A	55432767	T	A	55432767	3	1	185	1	0	0	0	0	1	0	0	0	11052	1609	56	5	127	5	OR4C6	11	55432767	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	48777921	55432767	79573749	29	13068											
TMEM109	79073	broad.mit.edu	37	chr11	60687272	60687272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcattggcccagtcccGtcgagactttgcaccaccag	8	8	9	16	2	1	1	1	0	0	1	3	2	2	1	4	1	2	2	4	1	0	2	rs139328208		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:60687272G>A	ENST00000227525.3	+	2	510	c.107G>A	c.(106-108)cGt>cAt	p.R36H	TMEM109_ENST00000536171.1_Missense_Mutation_p.R36H|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	36					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCCAGTCCCGTCGAGACTTT	0.547													A|||	1	0.000199681	0	0.0014	5008	,	,		21054	0		0	False		,,,				2504	0					uc001nqg.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(106-108)cGt>cAt		Homo sapiens transmembrane protein 109 (TMEM109), mRNA.		A	HIS/ARG	0,4406		0,0,2203	157	133	141		107	2.2	0	11	dbSNP_134	141	2,8596	819.1+/-406.8	0,2,4297	no	missense	TMEM109	NM_024092.2	29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign	36/244	60687272	2,13002	2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687272G>A		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.107G>A	11.37:g.60687272G>A	ENSP00000227525:p.Arg36His						p.R36H	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN			1	485	+			36						Missense_Mutation	SNP	ENST00000227525.3	37	c.107G>A	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.059388	0.00386	0.0	2.33E-4	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	4.62	2.19	0.27852	.	0.253989	0.32533	N	0.005974	T	0.07638	0.0192	N	0.00500	-1.43	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	9	0.23302	T	0.38	-0.4052	6.4044	0.21656	0.5797:0.3359:0.0844:0.0	.	36	Q9BVC6	TM109_HUMAN	H	36	.	ENSP00000227525:R36H	R	+	2	0	TMEM109	60443848	0.073000	0.21202	0.027000	0.17364	0.023000	0.10783	0.994000	0.29693	0.017000	0.15025	-0.360000	0.07572	CGT		0.547	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		A	60687272	G	A	60687272	3	1	185	1	0	0	0	0	1	0	0	0	16022	1145	40	1	109	1	TMEM109	11	60687272	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	5254505	60687272	74319244	30	13069											
NXF1	10482	broad.mit.edu	37	chr11	62561731	62561731	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatgccccgcactcactTctgggaccactcgaggttca	9	8	8	16	2	3	0	2	0	1	0	4	2	3	1	3	2	1	2	3	2	0	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:62561731T>C	ENST00000532297.1	-	20	2388	c.1759A>G	c.(1759-1761)Aag>Gag	p.K587E	TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Splice_Site_p.K587E|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	587	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCACTCACTTCTGGGACCAC	0.517																																						uc001nvf.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e19+1		Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.							68	60	63					11																	62561731		2201	4299	6500	SO:0001630	splice_region_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62561731T>C	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1760+1A>G	11.37:g.62561731T>C						TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_Splice_Site|NXF1_uc009yog.1_Splice_Site	p.K587_splice	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			19	1896	-			587			TAP-C.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1760_splice	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523964	0.85600	.	.	ENSG00000162231	ENST00000294172;ENST00000532297	T;T	0.49139	0.79;0.79	5.21	4.04	0.47022	TAP, C-terminal (3);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65038	-0.6265	10	0.21014	T	0.42	-21.3044	10.507	0.44839	0.0:0.0:0.1632:0.8368	.	587	Q9UBU9	NXF1_HUMAN	E	587	ENSP00000294172:K587E;ENSP00000436679:K587E	ENSP00000294172:K587E	K	-	1	0	NXF1	62318307	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.697000	0.84279	0.894000	0.36317	0.459000	0.35465	AAG		0.517	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	Missense_Mutation	C	62561731	T	C	62561731	5	2	185	1	0	0	0	0	0	0	1	0	10782	1797	62	4	112	4	NXF1	11	62561731	Splice_Site	SNP	T	TCGA-27-1833-01A-01W-0643-08	1874459	62561731	72444785	31	13070											
MAP4K2	5871	broad.mit.edu	37	chr11	64559447	64559448	+	Frame_Shift_Ins	INS	-	-	G																															acatggaacaggacgcggcaINSgccgggcccctcaggcccct																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:64559447_64559448insG	ENST00000294066.2	-	27	2116_2117	c.2025_2026insC	c.(2023-2028)ggctgcfs	p.C676fs	MAP4K2_ENST00000377350.3_Frame_Shift_Ins_p.C668fs	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	676	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGACGCGGCAGCCGGGCCCCT	0.708																																						uc001obh.3																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(2023-2028)ggctgcfs		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.				67,4105		2,63,2021						3.2	1			12	137,7985		3,131,3927	no	frameshift	MAP4K2	NM_004579.3		5,194,5948	A1A1,A1R,RR		1.6868,1.6059,1.6593				204,12090				SO:0001589	frameshift_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64559447_64559448insG	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2026dupC	11.37:g.64559448_64559448dupG	ENSP00000294066:p.Cys676fs					MAP4K2_uc001obi.3_Frame_Shift_Ins_p.G667fs	p.G675fs	NM_004579	NP_004570	Q12851	M4K2_HUMAN			26	2117_2118	-			675			CNH.		Q86VU3	Frame_Shift_Ins	INS	ENST00000294066.2	37	c.2025_2026insC	CCDS8082.1																																																																																				0.708	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		G	64559448	-	G	64559447	7	5	185	1	0	1	1	0	0	0	0	0	9260	188	7	0	460	0	MAP4K2	11	64559447	Frame_Shift_Ins	INS	-	TCGA-27-1833-01A-01W-0643-08	1997716	64559447	70447069	32	13071											
LST-3TM12	338821	broad.mit.edu	37	chr12	21229466	21229466	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacagctgtggagcaCgaggggcttgtaggatatat	11	8	13	9	1	0	0	0	0	0	0	0	3	0	2	2	4	3	4	2	4	4	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:21229466C>T	ENST00000421593.2	+	12	1687	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	LST3_ENST00000540229.1_Nonsense_Mutation_p.R671*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.R671*|LST3_ENST00000381541.3_Nonsense_Mutation_p.R610*|RP11-125O5.2_ENST00000590779.1_Silent_p.H63H|SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.R610*	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	563						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTGTGGAGCACGAGGGGCTTG	0.358																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(2011-2013)Cga>Tga		Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							175	185	182					12																	21229466		2203	4300	6503	SO:0001587	stop_gained	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229466C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1687C>T	12.37:g.21229466C>T	ENSP00000394168:p.Arg563*					SLCO1B3_uc010sim.2_Nonsense_Mutation_p.R610*|SLCO1B3_uc010sin.2_Nonsense_Mutation_p.R563*	p.R671*			Q9NPD5	SO1B3_HUMAN			14	2076	+	Esophageal squamous(101;0.149)		638					Q71QF0	Nonsense_Mutation	SNP	ENST00000421593.2	37	c.2011C>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	19.91	3.914658	0.72983	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	.	.	.	2.4	1.32	0.21799	.	0.513584	0.20032	N	0.100694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5507	0.04748	0.2889:0.5365:0.0:0.1746	.	.	.	.	X	671;610;671;610;563;72	.	ENSP00000370952:R610X	R	+	1	2	SLCO1B3;SLCO1B7;RP11-545J16.1	21120733	0.001000	0.12720	0.003000	0.11579	0.513000	0.34164	0.863000	0.27913	1.322000	0.45245	0.205000	0.17691	CGA		0.358	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		T	21229466	C	T	21229466	4	4	185	1	0	0	0	0	0	1	0	0	9066	528	19	1	1733	1	LST-3TM12	12	21229466	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		21229466	112622429	33	13072											
STAC3	246329	broad.mit.edu	37	chr12	57642900	57642900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatttgtggggcttatcGttgaccagcttaggaggttc	7	15	13	6	1	0	2	0	2	0	0	2	3	0	3	1	4	1	4	1	4	3	6	rs148939626		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:57642900G>A	ENST00000332782.2	-	3	459	c.258C>T	c.(256-258)aaC>aaT	p.N86N	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Silent_p.N47N	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	86					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGGGCTTATCGTTGACCAGCT	0.507																																						uc001snp.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(256-258)aaC>aaT		Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.		G		0,4406		0,0,2203	95	96	95		258	-1	1	12	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	STAC3	NM_145064.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		86/365	57642900	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642900G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.258C>T	12.37:g.57642900G>A						STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Silent_p.N47N|STAC3_uc010srm.1_Intron	p.N86N	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			2	460	-			86					B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	c.258C>T	CCDS8936.1																																																																																				0.507	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		A	57642900	G	A	57642900	2	1	185	1	0	0	0	0	0	0	0	1	15240	1136	40	1		1	STAC3	12	57642900	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	36413434	57642900	76208995	34	13073											
SACS	26278	broad.mit.edu	37	chr13	23908788	23908788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtggtaaagattagcaGtttcatcacagttataaacc	15	11	8	7	0	2	1	2	0	0	1	2	2	2	1	1	1	2	4	1	1	6	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr13:23908788G>T	ENST00000382292.3	-	9	9500	c.9227C>A	c.(9226-9228)aCt>aAt	p.T3076N	SACS_ENST00000382298.3_Missense_Mutation_p.T3076N|SACS_ENST00000402364.1_Missense_Mutation_p.T2326N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3076					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATTAGCAGTTTCATCACA	0.358																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(9226-9228)aCt>aAt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							93	88	89					13																	23908788		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908788G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9227C>A	13.37:g.23908788G>T	ENSP00000371729:p.Thr3076Asn					SACS_uc001uoo.2_Missense_Mutation_p.T2929N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.T3076N	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	9816	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3076					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9227C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012046	0.75046	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88201	-2.2;-2.35;-2.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	L	0.43152	1.355	0.51482	D	0.999929	D	0.89917	1.0	D	0.85130	0.997	D	0.91724	0.5391	10	0.42905	T	0.14	.	19.7024	0.96060	0.0:0.0:1.0:0.0	.	3076	Q9NZJ4	SACS_HUMAN	N	3076;2326;3076	ENSP00000371729:T3076N;ENSP00000385844:T2326N;ENSP00000371735:T3076N	ENSP00000371729:T3076N	T	-	2	0	SACS	22806788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.653000	0.90120	0.555000	0.69702	ACT		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23908788	G	T	23908788	3	4	185	1	0	0	0	0	1	0	0	0	13804	1029	36	5	4516	5	SACS	13	23908788	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		23908788	91261090	35	13074											
SPTB	6710	broad.mit.edu	37	chr14	65270332	65270332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaacccacctggaagCggaggatgatggtccagatg	11	5	14	11	1	0	2	0	1	0	1	1	6	1	6	4	5	2	0	4	5	2	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr14:65270332C>T	ENST00000389721.5	-	3	499	c.467G>A	c.(466-468)cGc>cAc	p.R156H	SPTB_ENST00000556626.1_Missense_Mutation_p.R156H|SPTB_ENST00000542895.1_Missense_Mutation_p.R156H|SPTB_ENST00000389720.3_Missense_Mutation_p.R156H|SPTB_ENST00000389722.3_Missense_Mutation_p.R156H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	156	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCTGGAAGCGGAGGATGAT	0.572																																						uc001xht.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(466-468)cGc>cAc		Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.							87	85	85					14																	65270332		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65270332C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.467G>A	14.37:g.65270332C>T	ENSP00000374371:p.Arg156His					SPTB_uc001xhr.3_Missense_Mutation_p.R156H|SPTB_uc001xhs.3_Missense_Mutation_p.R156H|SPTB_uc001xhu.3_Missense_Mutation_p.R156H	p.R156H	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	2	518	-		all_lung(585;4.15e-09)	156			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.467G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334579	0.95758	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.38	5.38	0.77491	Calponin homology domain (5);	0.108970	0.64402	D	0.000004	T	0.71736	0.3375	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73560	-0.3944	10	0.87932	D	0	.	18.2717	0.90070	0.0:1.0:0.0:0.0	.	156;160	P11277;Q59FP5	SPTB1_HUMAN;.	H	160;156;156;156;156;156	ENSP00000374372:R156H;ENSP00000451752:R156H;ENSP00000374371:R156H;ENSP00000443882:R156H;ENSP00000374370:R156H	ENSP00000374370:R156H	R	-	2	0	SPTB	64340085	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.755000	0.85180	2.677000	0.91161	0.563000	0.77884	CGC		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65270332	C	T	65270332	3	4	185	1	0	0	0	0	1	0	0	0	15117	768	27	1	6720	1	SPTB	14	65270332	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		65270332	42079208	36	13075											
WDR72	256764	broad.mit.edu	37	chr15	53992060	53992060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcttccgggcatgcAggaggcaactctttccctca	9	9	11	12	1	2	0	1	0	1	0	4	1	4	1	2	4	3	4	2	4	2	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:53992060A>T	ENST00000396328.1	-	13	1891	c.1652T>A	c.(1651-1653)cTg>cAg	p.L551Q	WDR72_ENST00000360509.5_Missense_Mutation_p.L551Q|WDR72_ENST00000559418.1_Missense_Mutation_p.L561Q|WDR72_ENST00000557913.1_Missense_Mutation_p.L548Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	551										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCGGGCATGCAGGAGGCAACT	0.463																																						uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1651-1653)cTg>cAg		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							124	130	128					15																	53992060		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53992060A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1652T>A	15.37:g.53992060A>T	ENSP00000379619:p.Leu551Gln					WDR72_uc010bfi.1_Missense_Mutation_p.L551Q	p.L551Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	12	1694	-			551					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1652T>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974179	0.74246	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01295	5.04;5.04	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.377447	0.25391	N	0.031017	T	0.07369	0.0186	M	0.71581	2.175	0.38366	D	0.944733	D	0.64830	0.994	D	0.64321	0.924	T	0.03969	-1.0988	10	0.62326	D	0.03	.	15.4793	0.75511	1.0:0.0:0.0:0.0	.	551	Q3MJ13	WDR72_HUMAN	Q	551	ENSP00000379619:L551Q;ENSP00000353699:L551Q	ENSP00000353699:L551Q	L	-	2	0	WDR72	51779352	1.000000	0.71417	0.212000	0.23672	0.856000	0.48823	8.138000	0.89613	2.311000	0.77944	0.533000	0.62120	CTG		0.463	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53992060	A	T	53992060	3	4	185	1	0	0	0	0	1	0	0	0	17319	188	7	5	1688	5	WDR72	15	53992060	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08		53992060	48539332	37	13076											
MEF2A	4205	broad.mit.edu	37	chr15	100230497	100230497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatttgattggagctactgGtgcaaatagcttaggcaaag	14	11	11	5	0	0	1	0	1	0	0	0	2	0	2	0	3	4	4	0	3	6	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:100230497G>A	ENST00000557785.1	+	8	1071	c.722G>A	c.(721-723)gGt>gAt	p.G241D	MEF2A_ENST00000558812.1_Missense_Mutation_p.G173D|MEF2A_ENST00000453228.2_Missense_Mutation_p.G241D|MEF2A_ENST00000354410.5_Missense_Mutation_p.G243D|MEF2A_ENST00000449277.2_Missense_Mutation_p.G173D|MEF2A_ENST00000338042.6_Missense_Mutation_p.G241D|MEF2A_ENST00000557942.1_Missense_Mutation_p.G241D	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	243					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAGCTACTGGTGCAAATAGC	0.413																																						uc010urw.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(727-729)gGt>gAt		Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.							48	45	46					15																	100230497		1828	4098	5926	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230497G>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.722G>A	15.37:g.100230497G>A	ENSP00000453441:p.Gly241Asp					MEF2A_uc002bve.3_Missense_Mutation_p.G241D|MEF2A_uc002bvg.3_Missense_Mutation_p.G241D|MEF2A_uc010urv.2_Missense_Mutation_p.G173D|MEF2A_uc010bos.3_Missense_Mutation_p.G241D|MEF2A_uc002bvf.3_Missense_Mutation_p.G243D|MEF2A_uc002bvi.3_Missense_Mutation_p.G241D|MEF2A_uc010bot.3_Missense_Mutation_p.G173D	p.G243D	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		6	1087	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		243					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.728G>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239064	0.95240	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.60672	0.19;0.17;0.2;1.19	5.55	5.55	0.83447	.	0.043128	0.85682	D	0.000000	T	0.66005	0.2746	L	0.46157	1.445	0.48288	D	0.999626	P;D;D;P;P;D	0.61697	0.647;0.983;0.964;0.911;0.76;0.99	B;P;P;P;P;P	0.53689	0.371;0.662;0.581;0.506;0.575;0.732	T	0.67898	-0.5551	10	0.72032	D	0.01	-17.6563	19.8622	0.96787	0.0:0.0:1.0:0.0	.	243;173;162;241;243;241	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	D	241;243;241;173	ENSP00000404110:G241D;ENSP00000346389:G243D;ENSP00000337202:G241D;ENSP00000399460:G173D	ENSP00000337202:G241D	G	+	2	0	MEF2A	98048020	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.571000	0.82399	2.769000	0.95229	0.650000	0.86243	GGT		0.413	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			A	100230497	G	A	100230497	3	1	185	1	0	0	0	0	1	0	0	0	9455	1261	44	3	886	3	MEF2A	15	100230497	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	46238437	100230497	2300895	38	13077											
CACNA1H	8912	broad.mit.edu	37	chr16	1255218	1255218	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcggccctctgggctaCatccggaacccgtacaacat	8	7	10	16	3	1	0	0	0	1	0	2	1	2	1	4	3	5	2	4	3	4	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1255218C>A	ENST00000348261.5	+	11	2804	c.2556C>A	c.(2554-2556)taC>taA	p.Y852*	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.Y852*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.Y852*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	852					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCTGGGCTACATCCGGAACC	0.597																																						uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2554-2556)taC>taA		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)						81	85	84					16																	1255218		2087	4211	6298	SO:0001587	stop_gained	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1255218C>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2556C>A	16.37:g.1255218C>A	ENSP00000334198:p.Tyr852*					CACNA1H_uc002ckt.3_Nonsense_Mutation_p.Y852*	p.Y852*	NM_021098	NP_066921	O95180	CAC1H_HUMAN			10	2804	+		Hepatocellular(780;0.00369)	852					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	ENST00000348261.5	37	c.2556C>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	39	7.299440	0.98196	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	3.93	2.97	0.34412	.	0.072567	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6295	0.45527	0.0:0.905:0.0:0.095	.	.	.	.	X	852	.	ENSP00000334198:Y852X	Y	+	3	2	CACNA1H	1195219	1.000000	0.71417	0.909000	0.35828	0.022000	0.10575	1.890000	0.39728	0.866000	0.35629	0.655000	0.94253	TAC		0.597	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1255218	C	A	1255218	4	1	185	1	0	0	0	0	0	1	0	0	2545	489	17	5	2594	5	CACNA1H	16	1255218	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		1255218	89099535	39	13078											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgctgcaacgtgccgcGgagcaactgctcctcccgag	7	5	11	18	5	0	0	0	0	0	0	2	2	2	1	4	1	6	4	4	1	2	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1816093G>A	ENST00000250894.4	+	21	2733	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	859					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.R859Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662																																						uc010uvl.2																			1	Substitution - Missense(1)	p.R859Q(2)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2578-2580)cGg>cAg		Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.							33	44	40					16																	1816093		2114	4226	6340	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816093G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2576G>A	16.37:g.1816093G>A	ENSP00000250894:p.Arg859Gln					MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R859Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R849Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R853Q	p.R860Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			20	2699	+			859					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2579G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246218	0.22796	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.29917	1.55;1.55	4.99	3.04	0.35103	.	0.114453	0.64402	D	0.000009	T	0.35595	0.0937	L	0.60455	1.87	0.58432	D	0.999993	P;P;P	0.52463	0.569;0.953;0.853	B;P;P	0.50352	0.129;0.638;0.447	T	0.05818	-1.0862	10	0.23302	T	0.38	-14.7528	10.4188	0.44338	0.1604:0.0:0.8396:0.0	.	860;853;859	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	859;853	ENSP00000250894:R859Q;ENSP00000348290:R853Q	ENSP00000250894:R859Q	R	+	2	0	MAPK8IP3	1756094	1.000000	0.71417	0.113000	0.21522	0.079000	0.17450	5.146000	0.64845	0.528000	0.28580	0.561000	0.74099	CGG		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		A	1816093	G	A	1816093	3	1	185	1	0	0	0	0	1	0	0	0	9286	1116	39	2	2674	2	MAPK8IP3	16	1816093	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	560875	1816093	88538660	40	13079											
SCNN1G	6340	broad.mit.edu	37	chr16	23200784	23200784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccagagtcccggaagcGccgagaggcggagtcctgga	8	6	15	12	4	0	2	0	0	0	2	3	6	3	5	4	4	1	0	4	4	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:23200784G>A	ENST00000300061.2	+	3	553	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	137					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCGGAAGCGCCGAGAGGCG	0.577																																						uc002dlm.1																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(409-411)cGc>cAc		Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						85	95	91					16																	23200784		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23200784G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.410G>A	16.37:g.23200784G>A	ENSP00000300061:p.Arg137His						p.R137H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	2	549	+			137					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.410G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823806	0.50739	.	.	ENSG00000166828	ENST00000300061	T	0.64438	-0.1	5.75	4.77	0.60923	.	0.138562	0.34386	N	0.004016	T	0.51686	0.1689	N	0.08118	0	0.28219	N	0.926625	D	0.57899	0.981	P	0.54401	0.751	T	0.48725	-0.9010	10	0.36615	T	0.2	-11.5624	10.7804	0.46374	0.0923:0.0:0.9077:0.0	.	137	P51170	SCNNG_HUMAN	H	137	ENSP00000300061:R137H	ENSP00000300061:R137H	R	+	2	0	SCNN1G	23108285	0.996000	0.38824	0.285000	0.24819	0.128000	0.20619	2.615000	0.46368	1.355000	0.45865	0.511000	0.50034	CGC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		A	23200784	G	A	23200784	3	1	185	1	0	0	0	0	1	0	0	0	13930	1087	38	1	416	1	SCNN1G	16	23200784	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	21384691	23200784	67153969	41	13080											
IL4R	3566	broad.mit.edu	37	chr16	27357789	27357789	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccgcttctcccgcagtGaaacccagggccccaggaaa	10	4	12	15	2	1	1	0	1	1	0	2	3	1	2	5	3	1	2	5	3	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:27357789G>A	ENST00000395762.2	+	6	622	c.363G>A	c.(361-363)gtG>gtA	p.V121V	IL4R_ENST00000170630.2_Splice_Site_p.V121V|IL4R_ENST00000543915.2_Splice_Site_p.V121V|IL4R_ENST00000449195.1_Splice_Site_p.V121V|IL4R_ENST00000380922.3_Splice_Site_p.V106V	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	121					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCCGCAGTGAAACCCAGGG	0.567																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.e6-1		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							65	59	61					16																	27357789		2197	4300	6497	SO:0001630	splice_region_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27357789G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.362-1G>A	16.37:g.27357789G>A						IL4R_uc002dom.3_Splice_Site_p.V121_splice|IL4R_uc002dop.4_Splice_Site_p.V106_splice|IL4R_uc010bxy.3_Splice_Site_p.V121_splice|IL4R_uc002doo.3_Splice_Site	p.V121_splice	NM_000418	NP_000409	P24394	IL4RA_HUMAN			6	604	+			121					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.362_splice	CCDS10629.1																																																																																				0.567	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		Silent	A	27357789	G	A	27357789	5	1	185	1	0	0	0	0	0	0	1	0	7698	1304	45	3	377	3	IL4R	16	27357789	Splice_Site	SNP	G	TCGA-27-1833-01A-01W-0643-08	4157005	27357789	62996964	42	13081											
DNAH9	1770	broad.mit.edu	37	chr17	11684359	11684359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctctggaaaagaaggctgGcagaaactatggccctccag	12	6	12	11	0	1	2	0	0	1	2	2	3	2	3	3	4	1	2	3	4	5	1	rs377663702		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:11684359G>A	ENST00000262442.4	+	39	7654	c.7586G>A	c.(7585-7587)gGc>gAc	p.G2529D	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2529D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2529	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGAAGGCTGGCAGAAACTAT	0.542																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7585-7587)gGc>gAc		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.		G	ASP/GLY	0,4406		0,0,2203	42	38	40		7586	5.1	0.9	17		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH9	NM_001372.3	94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2529/4487	11684359	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684359G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7586G>A	17.37:g.11684359G>A	ENSP00000262442:p.Gly2529Asp					DNAH9_uc010coo.3_Missense_Mutation_p.G1823D	p.G2529D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	38	7654	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2529			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7586G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775825	0.90195	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.55760	0.5;0.5	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.82467	0.5043	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.88722	0.3230	10	0.87932	D	0	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	2529	Q9NYC9	DYH9_HUMAN	D	2529;2529;1111	ENSP00000262442:G2529D;ENSP00000414874:G2529D	ENSP00000262442:G2529D	G	+	2	0	DNAH9	11625084	1.000000	0.71417	0.932000	0.37286	0.886000	0.51366	9.767000	0.98960	2.526000	0.85167	0.637000	0.83480	GGC		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11684359	G	A	11684359	3	1	185	1	0	0	0	0	1	0	0	0	4608	1203	42	3	7740	3	DNAH9	17	11684359	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		11684359	69510851	43	13082											
CDRT15	146822	broad.mit.edu	37	chr17	14140072	14140072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggatgagccttcttcGgcatcgtcggaaaaggctct	8	10	14	9	3	2	2	0	2	2	0	5	4	2	4	1	4	1	2	1	4	2	2	rs147270904	byFrequency	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:14140072G>A	ENST00000420162.2	-	1	94	c.79C>T	c.(79-81)Cga>Tga	p.R27*	CDRT15_ENST00000431716.2_Missense_Mutation_p.P2L	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	27								p.R27*(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGCCTTCTTCGGCATCGTCGG	0.597													G|||	5	0.000998403	0.0038	0	5008	,	,		20399	0		0	False		,,,				2504	0					uc010vvu.2																			1	Substitution - Nonsense(1)	p.R27*(2)	lung(1)	endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(79-81)Cga>Tga		Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.		G	stop/ARG	6,4400	11.4+/-27.6	0,6,2197	46	43	44		79	-1	0	17	dbSNP_134	44	0,8596		0,0,4298	no	stop-gained	CDRT15	NM_001007530.1		0,6,6495	AA,AG,GG		0.0,0.1362,0.0461		27/189	14140072	6,12996	2203	4298	6501	SO:0001587	stop_gained	146822							g.chr17:14140072G>A	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.79C>T	17.37:g.14140072G>A	ENSP00000402355:p.Arg27*						p.R27*	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	0	79	-			27					B2RUU5	Nonsense_Mutation	SNP	ENST00000420162.2	37	c.79C>T	CCDS32569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.781075|1.781075	0.31502|0.31502	0.001362|0.001362	0.0|0.0	ENSG00000223510|ENSG00000223510	ENST00000431716|ENST00000420162	.|.	.|.	.|.	0.675|0.675	-0.987|-0.987	0.10249|0.10249	.|.	.|.	.|.	.|.	.|.	T|.	0.09291|.	0.0229|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34279|.	-0.9835|.	4|.	0.87932|0.02654	D|T	0|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	L|X	2|27	.|.	ENSP00000399575:P2L|ENSP00000402355:R27X	P|R	-|-	2|1	0|2	CDRT15|CDRT15	14080797|14080797	0.958000|0.958000	0.32768|0.32768	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.277000|-0.277000	0.08502|0.08502	-0.311000|-0.311000	0.08754|0.08754	0.289000|0.289000	0.19496|0.19496	CCG|CGA		0.597	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		A	14140072	G	A	14140072	4	1	185	1	0	0	0	0	0	1	0	0	3175	1124	39	2	497	2	CDRT15	17	14140072	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2455713	14140072	67055138	44	13083											
CCL3	6348	broad.mit.edu	37	chr17	34416095	34416095	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacagacctgccggcttcGcttggttaggaagctgtgga	8	9	14	10	2	0	1	0	0	0	1	1	3	0	3	2	4	3	5	2	4	2	3	rs5029409	byFrequency	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:34416095G>A	ENST00000225245.5	-	3	284	c.202C>T	c.(202-204)Cga>Tga	p.R68*	AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	68		Involved in GAG binding.			astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCGGCTTCGCTTGGTTAGG	0.597																																						uc002hkv.3																			0				breast(2)|lung(3)|urinary_tract(1)	6						c.(202-204)Cga>Tga		Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.							105	106	106					17																	34416095		2203	4300	6503	SO:0001587	stop_gained	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416095G>A	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"Chemokine ligands", "Endogenous ligands"	10627	protein-coding gene	gene with protein product		182283	"small inducible cytokine A3 (homologous to mouse Mip-1a)"	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.202C>T	17.37:g.34416095G>A	ENSP00000225245:p.Arg68*						p.R68*	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	304	-		Ovarian(249;0.17)	68				Involved in GAG binding.		Nonsense_Mutation	SNP	ENST00000225245.5	37	c.202C>T	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152017	0.57151	.	.	ENSG00000006075	ENST00000225245	.	.	.	5.82	5.82	0.92795	.	0.754623	0.12169	N	0.493209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.2218	0.43201	0.0:0.0:0.1669:0.8331	.	.	.	.	X	68	.	ENSP00000225245:R68X	R	-	1	2	CCL3	31440208	0.786000	0.28738	0.627000	0.29227	0.088000	0.18126	2.174000	0.42482	1.032000	0.39892	-0.264000	0.10439	CGA		0.597	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		A	34416095	G	A	34416095	4	1	185	1	0	0	0	0	0	1	0	0	2901	1095	38	1	80	1	CCL3	17	34416095	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	20276023	34416095	46779115	45	13084											
KRT19	3880	broad.mit.edu	37	chr17	39680449	39680449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaagggtgcgccgcagGtcagtaacctcggacctgct	7	7	13	14	3	1	1	1	1	0	0	2	2	1	2	4	3	3	3	4	3	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:39680449G>T	ENST00000361566.3	-	5	954	c.894C>A	c.(892-894)gaC>gaA	p.D298E	KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	298	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TGCGCCGCAGGTCAGTAACCT	0.577																																						uc010wfs.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1381-1383)gaC>gaA		Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.							49	51	51					17																	39680449		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39680449G>T		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.894C>A	17.37:g.39680449G>T	ENSP00000355124:p.Asp298Glu					KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Missense_Mutation_p.D298E	p.D461E	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1391	-		Breast(137;0.000162)	0					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.1383C>A	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	1.625	-0.520432	0.04171	.	.	ENSG00000171345	ENST00000361566	D	0.86366	-2.11	5.26	0.562	0.17290	Prefoldin (1);Filament (1);	0.267510	0.26421	N	0.024473	T	0.61627	0.2362	N	0.02169	-0.655	0.33548	D	0.595791	B;B	0.27316	0.0;0.175	B;B	0.33339	0.002;0.162	T	0.61426	-0.7065	10	0.02654	T	1	.	4.8409	0.13489	0.0695:0.1983:0.2123:0.5199	.	461;298	B4DE59;P08727	.;K1C19_HUMAN	E	298	ENSP00000355124:D298E	ENSP00000355124:D298E	D	-	3	2	KRT19	36933975	0.000000	0.05858	0.991000	0.47740	0.396000	0.30629	-2.440000	0.01016	0.186000	0.20125	0.563000	0.77884	GAC		0.577	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		T	39680449	G	T	39680449	3	4	185	1	0	0	0	0	1	0	0	0	8456	1252	44	5	316	5	KRT19	17	39680449	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	5264354	39680449	41514761	46	13085											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115648	47115648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgagggggctttggctctCggggtcagccccgccagggc	3	6	18	14	3	2	0	1	0	1	0	3	1	2	0	4	6	1	2	4	6	0	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:47115648C>T	ENST00000290341.3	+	6	854	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	174					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTTGGCTCTCGGGGTCAGCC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(520-522)Cgg>Tgg		Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.							32	38	36					17																	47115648		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115648C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.520C>T	17.37:g.47115648C>T	ENSP00000290341:p.Arg174Trp					IGF2BP1_uc010dbj.3_Intron	p.R174W	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			5	854	+			174					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.520C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757789	0.89843	.	.	ENSG00000159217	ENST00000290341	T	0.22945	1.93	5.55	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.39835	0.1093	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.55391	0.775	T	0.30031	-0.9992	10	0.72032	D	0.01	-22.2604	13.0106	0.58729	0.2936:0.7064:0.0:0.0	.	174	Q9NZI8	IF2B1_HUMAN	W	174	ENSP00000290341:R174W	ENSP00000290341:R174W	R	+	1	2	IGF2BP1	44470647	0.926000	0.31397	0.982000	0.44146	0.988000	0.76386	1.985000	0.40668	1.280000	0.44463	0.655000	0.94253	CGG		0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		T	47115648	C	T	47115648	3	4	185	1	0	0	0	0	1	0	0	0	7573	875	31	2	542	2	IGF2BP1	17	47115648	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	7435199	47115648	34079562	47	13086											
SOX9	6662	broad.mit.edu	37	chr17	70117782	70117782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagccaggtgctcaaaggcTacgactggacgctggtgccc	8	7	13	13	2	2	0	2	0	0	0	2	2	2	1	2	4	4	3	2	4	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:70117782T>G	ENST00000245479.2	+	1	622	c.250T>G	c.(250-252)Tac>Gac	p.Y84D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	84					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCTCAAAGGCTACGACTGGAC	0.637																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(250-252)Tac>Gac		Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.							51	36	41					17																	70117782		2202	4299	6501	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70117782T>G	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.250T>G	17.37:g.70117782T>G	ENSP00000245479:p.Tyr84Asp					AK094963_uc002jiv.3_5'Flank	p.Y84D	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		0	622	+		Colorectal(1115;0.245)	84					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.250T>G	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553471	0.86127	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.93076	-3.16	4.39	4.39	0.52855	.	0.000000	0.85682	U	0.000000	D	0.97238	0.9097	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98080	1.0403	10	0.87932	D	0	.	13.6215	0.62140	0.0:0.0:0.0:1.0	.	84	P48436	SOX9_HUMAN	D	84	ENSP00000245479:Y84D	ENSP00000245479:Y84D	Y	+	1	0	SOX9	67629377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.808000	0.86044	1.625000	0.50366	0.402000	0.26972	TAC		0.637	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		G	70117782	T	G	70117782	3	3	185	1	0	0	0	0	1	0	0	0	14958	1522	53	5	252	5	SOX9	17	70117782	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	23002134	70117782	11077428	48	13087											
EPB41L3	23136	broad.mit.edu	37	chr18	5406824	5406824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcctcctgcctggcGgccagtcgcacgggggaggt	4	6	18	13	3	0	0	0	0	0	0	3	1	2	1	4	7	1	2	4	7	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:5406824G>A	ENST00000341928.2	-	16	2641	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A	EPB41L3_ENST00000342933.3_Silent_p.A767A|EPB41L3_ENST00000400111.3_Silent_p.A586A|EPB41L3_ENST00000427684.2_Silent_p.A39A|EPB41L3_ENST00000542146.1_Silent_p.A39A|EPB41L3_ENST00000544123.1_Silent_p.A598A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.A586A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	767	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGCCTGGCGGCCAGTCGCA	0.527																																						uc002kmt.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2299-2301)gcC>gcT		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							128	106	114					18																	5406824		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5406824G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2301C>T	18.37:g.5406824G>A						EPB41L3_uc010wzh.1_Silent_p.A598A|EPB41L3_uc002kmu.1_Silent_p.A586A|EPB41L3_uc010dkq.1_Silent_p.A477A|EPB41L3_uc002kms.1_Silent_p.A39A|EPB41L3_uc010wze.1_Silent_p.A39A|EPB41L3_uc010wzf.1_Silent_p.A39A|EPB41L3_uc010wzg.1_Silent_p.A39A|EPB41L3_uc010dkr.2_Silent_p.A159A	p.A767A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			15	2387	-			767			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2301C>T	CCDS11838.1																																																																																				0.527	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5406824	G	A	5406824	2	1	185	1	0	0	0	0	0	0	0	1	5154	1103	39	2		2	EPB41L3	18	5406824	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		5406824	72670424	49	13088											
SERPINB2	5055	broad.mit.edu	37	chr18	61569672	61569672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagatgatgtacttgcGtgaaaagctaaacattggat	14	12	10	5	1	0	3	0	2	0	1	0	4	0	4	0	1	5	3	0	1	6	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:61569672G>A	ENST00000299502.4	+	7	793	c.713G>A	c.(712-714)cGt>cAt	p.R238H	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.R238H	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	238					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTACTTGCGTGAAAAGCTA	0.363																																						uc010xeu.2																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(712-714)cGt>cAt		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						116	104	108					18																	61569672		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569672G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.713G>A	18.37:g.61569672G>A	ENSP00000299502:p.Arg238His					SERPINB2_uc002ljo.3_Missense_Mutation_p.R238H|SERPINB2_uc002ljp.1_Missense_Mutation_p.R43H|SERPINB2_uc002ljq.1_Missense_Mutation_p.R43H	p.R238H	NM_001143818	NP_002566	P05120	PAI2_HUMAN			7	1046	+		Esophageal squamous(42;0.131)	238					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.713G>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	6.437	0.448841	0.12223	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.84660	-1.88;-1.88	5.4	-2.15	0.07102	Serpin domain (3);	0.914875	0.09431	N	0.803012	T	0.71863	0.3390	N	0.20610	0.595	0.23602	N	0.997317	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.003	T	0.54289	-0.8316	10	0.30854	T	0.27	.	8.8716	0.35320	0.3909:0.1083:0.5009:0.0	.	238;238	B2R7Y0;P05120	.;PAI2_HUMAN	H	238	ENSP00000299502:R238H;ENSP00000401645:R238H	ENSP00000299502:R238H	R	+	2	0	SERPINB2	59720652	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.538000	0.00938	-0.560000	0.06102	-0.355000	0.07637	CGT		0.363	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		A	61569672	G	A	61569672	3	1	185	1	0	0	0	0	1	0	0	0	14101	1145	40	1	735	1	SERPINB2	18	61569672	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	56162848	61569672	16507576	50	13089											
CACNA1A	773	broad.mit.edu	37	chr19	13410023	13410023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctggccgcaggtgccgCgtgtaggcagccttccagcg	5	8	15	13	4	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:13410023C>T	ENST00000360228.5	-	19	2423	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	CACNA1A_ENST00000573710.2_Silent_p.T809T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	809					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGGTGCCGCGTGTAGGCAG	0.642																																						uc002mwy.3																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2422-2424)acG>acA		Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						45	53	50					19																	13410023		2031	4156	6187	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13410023C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2424G>A	19.37:g.13410023C>T						CACNA1A_uc010dzc.2_Silent_p.T334T|CACNA1A_uc010xnd.2_Silent_p.T811T|CACNA1A_uc021ups.1_Silent_p.T808T|CACNA1A_uc010xne.2_Silent_p.T811T|CACNA1A_uc010dze.2_Silent_p.T808T|CACNA1A_uc021upt.1_Silent_p.T809T	p.T808T	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		18	2660	-			809					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.2424G>A	CCDS45998.1																																																																																				0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13410023	C	T	13410023	2	4	185	1	0	0	0	0	0	0	0	1	2538	755	27	1		1	CACNA1A	19	13410023	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08		13410023	45718960	51	13090											
FCGBP	8857	broad.mit.edu	37	chr19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccagcggcctggcaggCggccacgtaggaagccagag	10	2	15	14	3	0	1	0	0	0	1	0	2	0	2	5	5	3	2	5	5	3	1	rs367948062		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:40368357C>T	ENST00000221347.6	-	28	12998	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4331						extracellular vesicular exosome (GO:0070062)		p.A4331T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647																																						uc002omp.4																			1	Substitution - Missense(1)	p.A4331T(2)	upper_aerodigestive_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12991-12993)Gcc>Acc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	183	192	189		12991	3	0.8	19		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCGBP	NM_003890.2	58	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	4331/5406	40368357	4,13002	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368357C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12991G>A	19.37:g.40368357C>T	ENSP00000221347:p.Ala4331Thr						p.A4331T	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		27	12999	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4331					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12991G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705270	0.15172	6.81E-4	1.16E-4	ENSG00000090920	ENST00000221347	T	0.78481	-1.18	4.08	3.0	0.34707	Uncharacterised domain, cysteine-rich (2);	0.495083	0.18716	U	0.133148	T	0.66237	0.2769	M	0.72624	2.21	0.20074	N	0.999938	P	0.39250	0.665	B	0.26864	0.074	T	0.59679	-0.7409	10	0.36615	T	0.2	.	4.2383	0.10637	0.0:0.6005:0.2058:0.1937	.	4331	Q9Y6R7	FCGBP_HUMAN	T	4331	ENSP00000221347:A4331T	ENSP00000221347:A4331T	A	-	1	0	FCGBP	45060197	0.000000	0.05858	0.755000	0.31263	0.082000	0.17680	-0.081000	0.11321	1.027000	0.39758	0.305000	0.20034	GCC		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368357	C	T	40368357	3	4	185	1	0	0	0	0	1	0	0	0	5778	768	27	1	3262	1	FCGBP	19	40368357	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	26958334	40368357	18760626	52	13091											
B3GNT8	593	broad.mit.edu	37	chr19	41932065	41932066	+	IGR	DEL	TG	TG	-																															gtcccagagcagcaggtcacTgtagcgacggctctcccagg																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:41932065_41932066delTG	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Frame_Shift_Del_p.YS206fs|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGCAGGTCACTGTAGCGACGGC	0.653																																						uc002oqs.3																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(616-621)tacagtfs		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.																																				SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932065_41932066delTG	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932065_41932066delTG						B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Frame_Shift_Del_p.Y206fs	p.Y206fs	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			2	1072_1073	-			206					B4DP47|E7EW46|Q16034|Q16472	Frame_Shift_Del	DEL	ENST00000269980.2	37	c.618_619delCA	CCDS12581.1																																																																																				0.653	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		-	41932066	TG	-	41932065	6	5	185	0	1	1	0	1	0	0	0	0	1263	1580	55	0		0	B3GNT8	19	41932065	IGR	DEL	TG	TCGA-27-1833-01A-01W-0643-08	1563708	41932065	17196918	53	13092											
GPR4	2828	broad.mit.edu	37	chr19	46094683	46094683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggggcgccgagttggCgcccagctccgtggcccaga	7	4	16	14	4	0	1	0	0	0	1	1	3	1	1	4	4	2	2	4	4	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094683C>T	ENST00000323040.4	-	2	1386	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	148					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCGAGTTGGCGCCCAGCTCC	0.672																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(442-444)Gcc>Acc		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							41	46	44					19																	46094683		2203	4299	6502	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094683C>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.442G>A	19.37:g.46094683C>T	ENSP00000319744:p.Ala148Thr					OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.A148T	p.A148T	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1387	-			148					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.442G>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926490	0.34002	.	.	ENSG00000177464	ENST00000323040	T	0.72282	-0.64	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.61173	0.2326	L	0.37507	1.11	0.48762	D	0.999707	P	0.42123	0.771	B	0.38712	0.28	T	0.59490	-0.7445	10	0.21540	T	0.41	.	16.5114	0.84286	0.0:1.0:0.0:0.0	.	148	P46093	GPR4_HUMAN	T	148	ENSP00000319744:A148T	ENSP00000319744:A148T	A	-	1	0	GPR4	50786523	0.978000	0.34361	0.999000	0.59377	0.997000	0.91878	1.987000	0.40687	2.501000	0.84356	0.455000	0.32223	GCC		0.672	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094683	C	T	46094683	3	4	185	1	0	0	0	0	1	0	0	0	6694	768	27	1	650	1	GPR4	19	46094683	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	4162618	46094683	13034300	54	13093											
GPR4	2828	broad.mit.edu	37	chr19	46094825	46094825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcgatgctgatgtagatAttggtgtagaagatgaaccc	13	10	13	5	1	0	5	0	2	0	3	0	6	0	5	1	2	2	3	1	2	6	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094825A>G	ENST00000323040.4	-	2	1244	c.300T>C	c.(298-300)aaT>aaC	p.N100N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	100					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGATGTAGATATTGGTGTAGA	0.622																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(298-300)aaT>aaC		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							106	107	107					19																	46094825		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094825A>G	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.300T>C	19.37:g.46094825A>G						OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N100N	p.N100N	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1245	-			100					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.300T>C	CCDS12669.1																																																																																				0.622	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		G	46094825	A	G	46094825	2	3	185	1	0	0	0	0	0	0	0	1	6694	446	16	4		4	GPR4	19	46094825	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08	142	46094825	13034158	55	13094											
CCDC114	93233	broad.mit.edu	37	chr19	48807021	48807021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggaggtcttccagaCgccctcggccacctccccgg	4	7	11	19	3	1	1	0	0	1	1	5	2	4	2	7	4	0	0	7	4	0	1	rs571330368		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:48807021C>T	ENST00000315396.7	-	8	1445	c.763G>A	c.(763-765)Gtc>Atc	p.V255I		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	255					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCTTCCAGACGCCCTCGGCC	0.632													C|||	1	0.000199681	0	0	5008	,	,		17612	0		0	False		,,,				2504	0.001					uc002pir.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(763-765)Gtc>Atc		Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.																																				SO:0001583	missense	93233							g.chr19:48807021C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.763G>A	19.37:g.48807021C>T	ENSP00000318429:p.Val255Ile					CCDC114_uc002piq.2_Missense_Mutation_p.V64I|CCDC114_uc002pio.3_Missense_Mutation_p.V292I|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V292I|CCDC114_uc002piu.1_Missense_Mutation_p.V292I	p.V255I	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1446	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	255					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.763G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138675	0.01742	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.02	0.682	0.17992	.	.	.	.	.	T	0.13713	0.0332	L	0.29908	0.895	0.19945	N	0.999942	B;B;B	0.26935	0.079;0.164;0.049	B;B;B	0.17098	0.016;0.017;0.011	T	0.22730	-1.0208	9	0.34782	T	0.22	-8.4759	9.0752	0.36517	0.0:0.4532:0.5468:0.0	.	48;255;255	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	I	255	ENSP00000318429:V255I	ENSP00000318429:V255I	V	-	1	0	CCDC114	53498833	0.744000	0.28250	0.968000	0.41197	0.274000	0.26718	0.784000	0.26816	0.134000	0.18681	-1.135000	0.01939	GTC		0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		T	48807021	C	T	48807021	3	4	185	1	0	0	0	0	1	0	0	0	2751	536	19	1	1277	1	CCDC114	19	48807021	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	2712196	48807021	10321962	56	13095											
CD33	945	broad.mit.edu	37	chr19	51728525	51728525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgcaggagtcagtgaCggtacaggagggtttgtgcg	9	8	18	6	2	1	1	1	1	0	0	1	3	1	3	0	4	3	4	0	4	2	2	rs369307221		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51728525C>T	ENST00000262262.4	+	2	110	c.89C>T	c.(88-90)aCg>aTg	p.T30M	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.T30M|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	30	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAGTCAGTGACGGTACAGGAG	0.582																																						uc002pwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(88-90)aCg>aTg		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)	C	,MET/THR,MET/THR	0,4406		0,0,2203	62	61	61		,89,89	1.3	0.1	19		61	3,8597		0,3,4297	no	intron,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,81,81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,probably-damaging,probably-damaging	,30/311,30/365	51728525	3,13003	2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728525C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.89C>T	19.37:g.51728525C>T	ENSP00000262262:p.Thr30Met					CD33_uc010eos.1_Missense_Mutation_p.T30M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.T30M	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	1	129	+		all_neural(266;0.0199)	30			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.89C>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	9.534	1.111574	0.20714	0.0	3.49E-4	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.51325	0.71;0.71	3.58	1.32	0.21799	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.685180	0.04251	U	0.338647	T	0.63546	0.2520	M	0.80746	2.51	0.21064	N	0.999793	D;D	0.59357	0.963;0.985	P;P	0.58172	0.555;0.834	T	0.33727	-0.9857	10	0.54805	T	0.06	.	4.2936	0.10890	0.2237:0.6525:0.0:0.1238	.	30;30	F8WAL2;P20138	.;CD33_HUMAN	M	30	ENSP00000262262:T30M;ENSP00000375673:T30M	ENSP00000262262:T30M	T	+	2	0	CD33	56420337	0.000000	0.05858	0.053000	0.19242	0.018000	0.09664	-1.484000	0.02316	0.299000	0.22661	-0.140000	0.14226	ACG		0.582	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		T	51728525	C	T	51728525	3	4	185	1	0	0	0	0	1	0	0	0	3005	536	19	1	95	1	CD33	19	51728525	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	2921504	51728525	7400458	57	13096											
CD33	945	broad.mit.edu	37	chr19	51729331	51729331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaccatccagctcaacGtcacctgtaagtgctgggcc	11	7	10	13	1	2	1	2	0	0	1	3	2	3	1	4	1	4	3	4	1	3	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51729331G>A	ENST00000262262.4	+	3	712	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CD33_ENST00000436584.2_Missense_Mutation_p.V104I|CD33_ENST00000391796.3_Missense_Mutation_p.V231I|CD33_ENST00000421133.2_Missense_Mutation_p.V104I	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	231					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCAGCTCAACGTCACCTGTAA	0.607																																						uc002pwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(691-693)Gtc>Atc		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)						38	36	37					19																	51729331		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729331G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.691G>A	19.37:g.51729331G>A	ENSP00000262262:p.Val231Ile					CD33_uc010eos.1_Missense_Mutation_p.V231I|CD33_uc010eot.1_Missense_Mutation_p.V104I|CD33_uc010eou.1_Non-coding_Transcript	p.V231I	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	731	+		all_neural(266;0.0199)	231					B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.691G>A	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.085191	0.36758	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.64803	-0.12;1.16;0.18;0.82	3.08	0.909	0.19332	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.30791	U	0.008875	T	0.62962	0.2471	M	0.69463	2.115	0.09310	N	1	P;D;P	0.54397	0.884;0.966;0.778	P;P;B	0.52881	0.699;0.712;0.222	T	0.54316	-0.8312	10	0.59425	D	0.04	.	4.6962	0.12804	0.306:0.0:0.694:0.0	.	104;231;231	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	I	104;231;104;231	ENSP00000403331:V104I;ENSP00000262262:V231I;ENSP00000410126:V104I;ENSP00000375673:V231I	ENSP00000262262:V231I	V	+	1	0	CD33	56421143	0.286000	0.24305	0.010000	0.14722	0.003000	0.03518	2.516000	0.45520	0.629000	0.30376	0.462000	0.41574	GTC		0.607	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		A	51729331	G	A	51729331	3	1	185	1	0	0	0	0	1	0	0	0	3005	1145	40	1	701	1	CD33	19	51729331	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	806	51729331	7399652	58	13097											
SEMG2	6407	broad.mit.edu	37	chr20	43851621	43851621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggcaagtctcaaaaccagGtaacaattcctagtcaagat	16	9	7	9	0	2	1	2	0	1	1	4	1	3	1	2	2	2	2	2	2	7	3			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:43851621G>A	ENST00000372769.3	+	2	1438	c.1348G>A	c.(1348-1350)Gta>Ata	p.V450I		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	450	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCAAAACCAGGTAACAATTCC	0.383																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1348-1350)Gta>Ata		Homo sapiens semenogelin II (SEMG2), mRNA.							79	77	78					20																	43851621		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851621G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1348G>A	20.37:g.43851621G>A	ENSP00000361855:p.Val450Ile					SEMG2_uc002xnk.3_Missense_Mutation_p.V450I|SEMG2_uc002xnl.3_Intron	p.V450I	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			1	1405	+		Myeloproliferative disorder(115;0.0122)	450			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1348G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	1.528	-0.545186	0.04024	.	.	ENSG00000124157	ENST00000372769	T	0.06768	3.26	1.25	0.0886	0.14455	.	.	.	.	.	T	0.02848	0.0085	N	0.03608	-0.345	0.09310	N	1	B;B	0.16802	0.001;0.019	B;B	0.23419	0.013;0.046	T	0.48007	-0.9072	9	0.10902	T	0.67	.	2.9627	0.05897	0.6654:0.0:0.3346:0.0	.	450;450	A8K6Z6;Q02383	.;SEMG2_HUMAN	I	450	ENSP00000361855:V450I	ENSP00000361855:V450I	V	+	1	0	SEMG2	43285035	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.489000	0.06490	-0.008000	0.14320	-0.471000	0.05019	GTA		0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43851621	G	A	43851621	3	1	185	1	0	0	0	0	1	0	0	0	14045	1261	44	3	1354	3	SEMG2	20	43851621	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		43851621	19173899	59	13098											
SULF2	55959	broad.mit.edu	37	chr20	46292214	46292214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgtccagaaaggcgccGtctgccagtgctggttgtcg	6	9	14	12	4	1	1	0	0	1	1	3	1	2	1	3	2	2	2	3	2	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:46292214G>A	ENST00000359930.4	-	16	3061	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	SULF2_ENST00000484875.1_Missense_Mutation_p.T737M|SULF2_ENST00000361612.4_Missense_Mutation_p.T737M|SULF2_ENST00000467815.1_Missense_Mutation_p.T737M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	737					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAAAGGCGCCGTCTGCCAGTG	0.597											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xto.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2209-2211)aCg>aTg		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							99	90	93					20																	46292214		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46292214G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2210C>T	20.37:g.46292214G>A	ENSP00000353007:p.Thr737Met		OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_uc002xtr.3_Missense_Mutation_p.T737M|SULF2_uc002xtq.3_Missense_Mutation_p.T737M|SULF2_uc010zyd.2_Missense_Mutation_p.T16M	p.T737M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			15	2540	-			737					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2210C>T	CCDS13408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.623960|4.623960	0.87560|0.87560	.|.	.|.	ENSG00000196562|ENSG00000196562	ENST00000495544|ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	.|T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Alkaline-phosphatase-like, core domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60418|0.60418	0.2267|0.2267	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.64647|0.64647	-0.6358|-0.6358	5|10	.|0.87932	.|D	.|0	-18.5879|-18.5879	20.3632|20.3632	0.98871|0.98871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|737;737	.|Q8IWU5-2;Q8IWU5	.|.;SULF2_HUMAN	W|M	92|737;737;737;156;737	.|ENSP00000353007:T737M;ENSP00000418290:T737M;ENSP00000354662:T737M;ENSP00000418442:T737M	.|ENSP00000353007:T737M	R|T	-|-	1|2	2|0	SULF2|SULF2	45725621|45725621	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.576000|0.576000	0.36127|0.36127	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.597	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46292214	G	A	46292214	3	1	185	1	0	0	0	0	1	0	0	0	15370	1145	40	1	426	1	SULF2	20	46292214	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2440593	46292214	16733306	60	13099											
ZFP64	55734	broad.mit.edu	37	chr20	50803594	50803594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagctccaccagcacCgttgtgccacctggaactcc	8	7	10	16	1	1	0	1	0	0	0	3	2	3	2	6	2	4	3	6	2	1	1	rs529661940		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:50803594C>T	ENST00000216923.4	-	2	412	c.63G>A	c.(61-63)acG>acA	p.T21T	ZFP64_ENST00000361387.2_Silent_p.T21T|ZFP64_ENST00000371518.2_Silent_p.T21T|ZFP64_ENST00000346617.4_Silent_p.T21T|ZFP64_ENST00000371515.4_Silent_p.T19T	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACCAGCACCGTTGTGCCAC	0.483													C|||	1	0.000199681	0	0	5008	,	,		19795	0.001		0	False		,,,				2504	0					uc002xwl.3																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(61-63)acG>acA		Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.							59	53	55					20																	50803594		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50803594C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.63G>A	20.37:g.50803594C>T						ZFP64_uc002xwk.3_Silent_p.T21T|ZFP64_uc002xwm.3_Silent_p.T19T|ZFP64_uc002xwn.3_Silent_p.T21T	p.T21T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			1	412	-			21					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.63G>A	CCDS13440.1																																																																																				0.483	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		T	50803594	C	T	50803594	2	4	185	1	0	0	0	0	0	0	0	1	17649	639	23	2		2	ZFP64	20	50803594	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	4511380	50803594	12221926	61	13100											
LAMA5	3911	broad.mit.edu	37	chr20	60921843	60921843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacagtcggtggcatggccGtagcagttacaggctagaga	11	8	14	8	2	0	1	0	0	0	1	1	2	0	1	1	4	3	5	1	4	4	4	rs373700695		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370692.3_Silent_p.Y362Y|LAMA5_ENST00000370677.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATGGCCGTAGCAGTTAC	0.667																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1084-1086)taC>taT		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	A		1,4397	2.1+/-5.4	0,1,2198	29	32	31		1086	-9.7	0.3	20		31	0,8590		0,0,4295	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		362/3696	60921843	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921843G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1086C>T	20.37:g.60921843G>A						LAMA5_uc021wfw.1_Silent_p.Y362Y	p.Y362Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		7	1153	-	Breast(26;1.57e-08)		362			Laminin EGF-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.1086C>T	CCDS33502.1																																																																																				0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60921843	G	A	60921843	2	1	185	1	0	0	0	0	0	0	0	1	8609	1140	40	1		1	LAMA5	20	60921843	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	10118249	60921843	2103677	62	13101											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770222	19770222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaaaactcttgagttcttAtattcattcttcagattgct	10	19	5	7	0	5	2	2	1	3	1	5	2	5	2	0	0	2	3	0	0	4	9			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:19770222A>G	ENST00000284885.3	-	3	351	c.318T>C	c.(316-318)taT>taC	p.Y106Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	106	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGAGTTCTTATATTCATTCT	0.249																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(316-318)taT>taC		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							16	17	17					21																	19770222		2132	4212	6344	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770222A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.318T>C	21.37:g.19770222A>G							p.Y106Y	NM_002772	NP_002763	P98073	ENTK_HUMAN			2	349	-			106			SEA.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.318T>C	CCDS13571.1																																																																																				0.249	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		G	19770222	A	G	19770222	2	3	185	1	0	0	0	0	0	0	0	1	16243	456	16	4		4	TMPRSS15	21	19770222	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08		19770222	28359673	63	13102											
RIPK4	54101	broad.mit.edu	37	chr21	43161519	43161519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtagtgcccgcgctgtgCggccaggtgcaatggcgtcc	4	7	17	13	5	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	1	rs371705604		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:43161519C>T	ENST00000352483.2	-	9	2042	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	RIPK4_ENST00000544709.1_Missense_Mutation_p.A549T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A549T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A612T|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	660					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGCGCTGTGCGGCCAGGTGC	0.687																																						uc002yzn.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1834-1836)Gca>Aca		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							59	60	60					21																	43161519		2203	4298	6501	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161519C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1978G>A	21.37:g.43161519C>T	ENSP00000330161:p.Ala660Thr						p.A612T	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1882	-			612					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1834G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.775232|2.775232	0.49786|0.49786	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057|ENST00000330470	T;T;T;T|.	0.69040|.	-0.37;-0.33;1.89;1.89|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.66187|0.66187	0.2764|0.2764	M|M	0.66439|0.66439	2.03|2.03	0.42100|0.42100	D|D	0.991336|0.991336	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.63157|0.63157	-0.6700|-0.6700	10|6	0.49607|0.02654	T|T	0.09|1	-31.9783|-31.9783	17.2557|17.2557	0.87056|0.87056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	612|.	P57078-2|.	.|.	T|H	612;660;549;549|348	ENSP00000332454:A612T;ENSP00000330161:A660T;ENSP00000441754:A549T;ENSP00000442901:A549T|.	ENSP00000332454:A612T|ENSP00000330975:R348H	A|R	-|-	1|2	0|0	RIPK4|RIPK4	42034588|42034588	0.997000|0.997000	0.39634|0.39634	0.880000|0.880000	0.34516|0.34516	0.173000|0.173000	0.22820|0.22820	3.632000|3.632000	0.54287|0.54287	2.298000|2.298000	0.77334|0.77334	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.687	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		T	43161519	C	T	43161519	3	4	185	1	0	0	0	0	1	0	0	0	13383	768	27	1	524	1	RIPK4	21	43161519	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	23391297	43161519	4968376	64	13103											
A4GALT	53947	broad.mit.edu	37	chr22	43089430	43089430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgcgatcctggaggcGtcggagagcacgggcagcag	9	5	18	9	4	0	2	0	1	0	1	2	5	1	3	1	4	3	3	1	4	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:43089430G>A	ENST00000401850.1	-	2	1017	c.528C>T	c.(526-528)gaC>gaT	p.D176D	A4GALT_ENST00000381278.3_Silent_p.D176D|A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.D176D			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	176					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCCTGGAGGCGTCGGAGAGCA	0.652																																						uc003bdb.3																			0		p.S175S(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(526-528)gaC>gaT		Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.							55	52	53					22																	43089430		2203	4300	6503	SO:0001819	synonymous_variant	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089430G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.528C>T	22.37:g.43089430G>A						A4GALT_uc021wqo.1_Silent_p.D176D|A4GALT_uc021wqp.1_Silent_p.D176D|A4GALT_uc010gzd.3_Silent_p.D176D|A4GALT_uc021wqq.1_Silent_p.D176D	p.D176D	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN			2	789	-			176					B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	c.528C>T	CCDS14041.1																																																																																				0.652	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		A	43089430	G	A	43089430	2	1	185	1	0	0	0	0	0	0	0	1	6	1136	40	1		1	A4GALT	22	43089430	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		43089430	8215136	65	13104											
SHANK3	85358	broad.mit.edu	37	chr22	51159629	51159629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagctctggcctcccaggCgccctcccggtcccccacac	4	5	10	22	3	1	0	0	0	1	0	4	1	4	0	6	3	1	1	6	3	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:51159629C>T	ENST00000414786.2	+	21	3553	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V	SHANK3_ENST00000262795.3_Missense_Mutation_p.A1139V|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1125V			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1123					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCTCCCAGGCGCCCTCCCGG	0.711																																						uc003bne.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3415-3417)gCg>gTg		Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.							9	11	10					22																	51159629		1945	4098	6043	SO:0001583	missense	85358							g.chr22:51159629C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3326C>T	22.37:g.51159629C>T	ENSP00000464552:p.Ala1109Val					SHANK3_uc003bnf.1_Missense_Mutation_p.A586V	p.A1139V	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3416	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1139					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.3416C>T		.	.	.	.	.	.	.	.	.	.	C	8.902	0.956689	0.18507	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.22539	1.95;1.95	4.3	1.72	0.24424	.	0.449310	0.24559	N	0.037481	T	0.09024	0.0223	N	0.04880	-0.145	0.09310	N	0.99999	B;B;B	0.15473	0.0;0.013;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.30592	-0.9973	10	0.28530	T	0.3	.	9.1874	0.37178	0.0:0.7827:0.0:0.2173	.	1123;1124;1139	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	V	1139;1125	ENSP00000442518:A1139V;ENSP00000446078:A1125V	ENSP00000442518:A1139V	A	+	2	0	SHANK3	49506495	0.178000	0.23122	0.853000	0.33588	0.852000	0.48524	0.424000	0.21330	0.802000	0.34089	0.462000	0.41574	GCG		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51159629	C	T	51159629	3	4	185	1	0	0	0	0	1	0	0	0	14266	768	27	1	3502	1	SHANK3	22	51159629	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	8070199	51159629	144937	66	13105											
MAGEB4	4115	broad.mit.edu	37	chrX	30260469	30260469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccaccacctctgctgctGcagctatgtcatgcactgga	8	9	8	16	0	2	0	1	0	1	0	2	1	2	1	3	1	5	5	3	1	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:30260469G>A	ENST00000378982.2	+	1	413	c.217G>A	c.(217-219)Gca>Aca	p.A73T	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	73										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTCTGCTGCTGCAGCTATGTC	0.527																																						uc004dcb.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(217-219)Gca>Aca		Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.							53	47	49					X																	30260469		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260469G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.217G>A	X.37:g.30260469G>A	ENSP00000368266:p.Ala73Thr					MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	p.A73T	NM_002367	NP_002358	O15481	MAGB4_HUMAN			0	413	+			73					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.217G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307716	0.40795	.	.	ENSG00000120289	ENST00000378982	T	0.05786	3.39	3.24	-0.712	0.11226	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.18130	0.0435	M	0.80028	2.48	0.09310	N	1	D	0.63880	0.993	D	0.70016	0.967	T	0.10753	-1.0616	9	0.49607	T	0.09	.	2.5936	0.04848	0.4195:0.0:0.3592:0.2213	.	73	O15481	MAGB4_HUMAN	T	73	ENSP00000368266:A73T	ENSP00000368266:A73T	A	+	1	0	MAGEB4	30170390	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.037000	0.13840	-0.317000	0.08677	0.544000	0.68410	GCA		0.527	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		A	30260469	G	A	30260469	3	1	185	1	0	0	0	0	1	0	0	0	9178	1319	46	3	219	3	MAGEB4	23	30260469	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		30260469	125010091	67	13106											
CCDC120	90060	broad.mit.edu	37	chrX	48923077	48923077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctggggggagccctgagCggcgaaccccatggaaacca	10	5	14	12	2	1	1	0	1	1	0	1	4	1	3	4	5	4	0	4	5	3	1	rs148446381		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:48923077C>T	ENST00000376396.3	+	8	994	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	CCDC120_ENST00000597275.1_Missense_Mutation_p.R259W|CCDC120_ENST00000496529.2_Missense_Mutation_p.R259W|CCDC120_ENST00000603986.1_Missense_Mutation_p.R294W|CCDC120_ENST00000536628.2_Missense_Mutation_p.R247W|CCDC120_ENST00000422185.2_Missense_Mutation_p.R259W	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	259										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GAGCCCTGAGCGGCGAACCCC	0.642																																						uc011mmr.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(775-777)Cgg>Tgg		Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3834		0,0,1632,570	20	19	19		775,739,739,775	3.3	1	X	dbSNP_134	19	1,6725		0,1,2427,1870	yes	missense,missense,missense,missense	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	101,101,101,101	0,1,4059,2440	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	259/662,247/650,247/619,259/631	48923077	1,10559	2202	4298	6500	SO:0001583	missense	90060						protein binding	g.chrX:48923077C>T	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.775C>T	X.37:g.48923077C>T	ENSP00000365577:p.Arg259Trp					CCDC120_uc010nik.3_Missense_Mutation_p.R259W|CCDC120_uc011mmq.2_Missense_Mutation_p.R247W|CCDC120_uc004dmf.3_Missense_Mutation_p.R259W|CCDC120_uc010nil.3_Missense_Mutation_p.R259W|CCDC120_uc011mms.2_Missense_Mutation_p.R247W|CCDC120_uc022bvz.1_5'Flank	p.R259W	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN			7	1067	+			259					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.775C>T	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876104	0.72180	0.0	1.49E-4	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.15	3.29	0.37713	.	0.122796	0.56097	D	0.000032	T	0.67683	0.2919	L	0.50333	1.59	0.35168	D	0.771298	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.982;0.983;0.983;0.983	T	0.74725	-0.3568	9	0.72032	D	0.01	-7.1831	10.9112	0.47110	0.341:0.659:0.0:0.0	.	247;294;247;259	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	W	259;259;247	.	ENSP00000365577:R259W	R	+	1	2	CCDC120	48810021	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	1.936000	0.40183	0.444000	0.26612	0.529000	0.55759	CGG		0.642	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		T	48923077	C	T	48923077	3	4	185	1	0	0	0	0	1	0	0	0	2756	759	27	1	797	1	CCDC120	23	48923077	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	18662608	48923077	106347483	68	13107											
BRWD3	254065	broad.mit.edu	37	chrX	79938109	79938109	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaataaggcagataatcGcagcatcatgctatagatct	15	11	7	8	1	3	2	2	0	1	2	4	2	3	2	0	1	2	4	0	1	5	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:79938109G>A	ENST00000373275.4	-	38	4468	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1418					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGATAATCGCAGCATCATG	0.338																																						uc004edt.3																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4252-4254)Cga>Tga		Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.							120	103	109					X																	79938109		2203	4300	6503	SO:0001587	stop_gained	254065							g.chrX:79938109G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4252C>T	X.37:g.79938109G>A	ENSP00000362372:p.Arg1418*					BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.R1247*|BRWD3_uc004edq.3_Nonsense_Mutation_p.R1014*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edr.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eds.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edo.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edu.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004edv.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edw.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edx.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edy.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edz.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eea.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.R1014*	p.R1418*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			37	4515	-			1418					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.4252C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	11.030795	0.99505	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.82	2.96	0.34315	.	0.112670	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.2934	12.6899	0.56968	0.0:0.0:0.6934:0.3066	.	.	.	.	X	1418	.	.	R	-	1	2	BRWD3	79824765	0.989000	0.36119	0.998000	0.56505	0.811000	0.45836	0.563000	0.23547	0.404000	0.25506	0.415000	0.27848	CGA		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	79938109	G	A	79938109	4	1	185	1	0	0	0	0	0	1	0	0	1526	1095	38	1	1172	1	BRWD3	23	79938109	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	31015032	79938109	75332451	69	13108											
NXF3	56000	broad.mit.edu	37	chrX	102334798	102334798	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtcatagatcaagtaataCctgttggagaccagtgagga	14	9	12	6	0	2	3	2	1	0	2	2	6	2	4	2	2	1	2	2	2	4	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:102334798C>T	ENST00000395065.3	-	13	1154	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	NXF3_ENST00000425644.1_Splice_Site_p.R23R	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	351	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAAGTAATACCTGTTGGAGA	0.493																																						uc004eju.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.e13-1		Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.							113	101	105					X																	102334798		2203	4300	6503	SO:0001630	splice_region_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102334798C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1053-1G>A	X.37:g.102334798C>T						NXF3_uc010noi.1_Splice_Site_p.Q201_splice	p.Q351_splice	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			13	1124	-			351			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Silent	SNP	ENST00000395065.3	37	c.1053_splice	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.240053	0.22711	.	.	ENSG00000147206	ENST00000427570	.	.	.	4.44	-2.31	0.06765	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24870	-1.0148	4	.	.	.	.	2.1205	0.03724	0.1254:0.4378:0.1213:0.3156	.	.	.	.	I	228	.	.	V	-	1	0	NXF3	102221454	1.000000	0.71417	0.233000	0.24025	0.865000	0.49528	1.081000	0.30791	-0.882000	0.03987	0.600000	0.82982	GTA		0.493	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	Silent	T	102334798	C	T	102334798	5	4	185	1	0	0	0	0	0	0	1	0	10785	521	18	3	570	3	NXF3	23	102334798	Splice_Site	SNP	C	TCGA-27-1833-01A-01W-0643-08	22396689	102334798	52935762	70	13109											
DVL1	1855	broad.mit.edu	37	chr1	1275475	1275475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccacagccccgcccttCatgatggagccaatgtagat	9	7	11	14	2	1	2	1	1	0	1	1	3	1	3	5	2	2	1	5	2	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:1275475C>T	ENST00000378888.5	-	8	1136	c.852G>A	c.(850-852)atG>atA	p.M284I	DVL1_ENST00000378891.5_Missense_Mutation_p.M284I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	284	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCCGCCCTTCATGATGGAGC	0.627																																						uc001aer.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(850-852)atG>atA		Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.							47	50	49					1																	1275475		2202	4299	6501	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275475C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.852G>A	1.37:g.1275475C>T	ENSP00000368166:p.Met284Ile					DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Missense_Mutation_p.M1I|DVL1_uc001aeu.1_5'UTR	p.M284I	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	7	899	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	284			PDZ.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.852G>A		.	.	.	.	.	.	.	.	.	.	C	14.18	2.458139	0.43634	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.28255	1.62;1.62	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.104836	0.64402	D	0.000001	T	0.28632	0.0709	L	0.27053	0.805	0.80722	D	1	P;P	0.49862	0.929;0.777	P;B	0.46585	0.521;0.424	T	0.24941	-1.0146	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	284;284	O14640;O14640-2	DVL1_HUMAN;.	I	284	ENSP00000368169:M284I;ENSP00000368166:M284I	ENSP00000368166:M284I	M	-	3	0	DVL1	1265338	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	ATG		0.627	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		T	1275475	C	T	1275475	3	4	186	1	0	0	0	0	1	0	0	0	4835	826	29	3	1192	3	DVL1	1	1275475	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		1275475	247975146	1	13110											
AGL	178	broad.mit.edu	37	chr1	100382185	100382185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctattgggtattttcttcGtgcaaaattatatttttcca	9	19	6	7	1	1	0	0	0	1	0	3	0	2	0	2	1	1	2	2	1	6	10	rs546855663	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:100382185G>A	ENST00000294724.4	+	33	4857	c.4379G>A	c.(4378-4380)cGt>cAt	p.R1460H	AGL_ENST00000370165.3_Missense_Mutation_p.R1460H|AGL_ENST00000361915.3_Missense_Mutation_p.R1460H|AGL_ENST00000370163.3_Missense_Mutation_p.R1460H|AGL_ENST00000370161.2_Missense_Mutation_p.R1444H|AGL_ENST00000361522.4_Missense_Mutation_p.R1443H|AGL_ENST00000361302.3_Missense_Mutation_p.R1444H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1460					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATTTTCTTCGTGCAAAATTA	0.308													G|||	2	0.000399361	0	0	5008	,	,		15431	0		0	False		,,,				2504	0.002					uc001dsi.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4378-4380)cGt>cAt		Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.							67	71	70					1																	100382185		2202	4299	6501	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100382185G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4379G>A	1.37:g.100382185G>A	ENSP00000294724:p.Arg1460His					AGL_uc001dsj.1_Missense_Mutation_p.R1460H|AGL_uc001dsk.1_Missense_Mutation_p.R1460H|AGL_uc001dsl.1_Missense_Mutation_p.R1460H|AGL_uc001dsm.1_Missense_Mutation_p.R1444H|AGL_uc001dsn.1_Missense_Mutation_p.R1443H	p.R1460H	NM_000642	NP_000635	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	32	4779	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1460					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.4379G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805304	0.90623	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.89	4.98	0.66077	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	D	0.85531	0.5718	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.89864	0.4018	10	0.87932	D	0	.	15.0055	0.71510	0.068:0.0:0.932:0.0	.	1443;1444;1460	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	1460;1460;1460;1460;1444;1444;1443	ENSP00000355106:R1460H;ENSP00000359184:R1460H;ENSP00000359182:R1460H;ENSP00000294724:R1460H;ENSP00000354971:R1444H;ENSP00000359180:R1444H;ENSP00000354635:R1443H	ENSP00000294724:R1460H	R	+	2	0	AGL	100154773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.658000	0.83755	1.499000	0.48617	0.655000	0.94253	CGT		0.308	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		A	100382185	G	A	100382185	3	1	186	1	0	0	0	0	1	0	0	0	384	1145	40	1	4574	1	AGL	1	100382185	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	99106710	100382185	148868436	2	13111											
DENND2C	163259	broad.mit.edu	37	chr1	115143493	115143493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatggtgcgtccaggaGctgggaaaggagcttccatg	8	9	16	8	1	0	1	0	1	0	0	2	4	2	4	2	4	3	2	2	4	1	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:115143493G>A	ENST00000393274.1	-	14	2529	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	DENND2C_ENST00000393277.1_Missense_Mutation_p.A635V|DENND2C_ENST00000393276.3_Missense_Mutation_p.A578V|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	635	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTCCAGGAGCTGGGAAAGG	0.448																																						uc001efd.1																			0		p.R635H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1903-1905)gCt>gTt		Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.							128	124	125					1																	115143493		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115143493G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1904C>T	1.37:g.115143493G>A	ENSP00000376955:p.Ala635Val					DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A578V	p.A635V	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2606	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	635			DENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1904C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559025	0.96514	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12465	2.68;2.68;2.68	5.18	5.18	0.71444	DENN (3);	0.000000	0.49916	U	0.000121	T	0.31389	0.0795	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.08743	-1.0707	10	0.87932	D	0	.	18.7701	0.91888	0.0:0.0:1.0:0.0	.	635;578	Q68D51;Q68D51-3	DEN2C_HUMAN;.	V	578;635;635;635	ENSP00000376957:A578V;ENSP00000376955:A635V;ENSP00000376958:A635V	ENSP00000358553:A635V	A	-	2	0	DENND2C	114945016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.431000	0.82371	0.650000	0.86243	GCT		0.448	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		A	115143493	G	A	115143493	3	1	186	1	0	0	0	0	1	0	0	0	4430	971	34	3	914	3	DENND2C	1	115143493	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	14761308	115143493	134107128	3	13112											
SPAG17	200162	broad.mit.edu	37	chr1	118598400	118598400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgctagcagaagtaagtTtggcattagcagaagatttc	12	14	10	5	0	0	3	0	0	0	3	1	3	0	3	0	1	3	6	0	1	5	7			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:118598400T>A	ENST00000336338.5	-	19	2743	c.2678A>T	c.(2677-2679)aAa>aTa	p.K893I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	893						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAAGTAAGTTTGGCATTAGC	0.323																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2677-2679)aAa>aTa		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							100	102	101					1																	118598400		2202	4298	6500	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118598400T>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2678A>T	1.37:g.118598400T>A	ENSP00000337804:p.Lys893Ile					SPAG17_uc021oss.1_Intron	p.K893I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	18	2746	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	893					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2678A>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668537	0.29604	.	.	ENSG00000155761	ENST00000336338	T	0.21191	2.02	5.35	0.39	0.16275	.	1.109960	0.06793	N	0.787295	T	0.06962	0.0177	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.43669	-0.9377	10	0.62326	D	0.03	.	5.5896	0.17293	0.1207:0.2207:0.0:0.6586	.	893	Q6Q759	SPG17_HUMAN	I	893	ENSP00000337804:K893I	ENSP00000337804:K893I	K	-	2	0	SPAG17	118399923	0.980000	0.34600	0.004000	0.12327	0.001000	0.01503	1.166000	0.31834	-0.346000	0.08312	-1.463000	0.01021	AAA		0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118598400	T	A	118598400	3	1	186	1	0	0	0	0	1	0	0	0	14979	1841	64	5	4113	5	SPAG17	1	118598400	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	3454907	118598400	130652221	4	13113											
FLG	2312	broad.mit.edu	37	chr1	152276824	152276824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtgtctagagctgtccGcctgagtggaagcttcatgg	7	11	15	8	1	2	3	1	2	1	1	3	4	3	4	2	2	2	2	2	2	2	2	rs143278829		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152276824G>A	ENST00000368799.1	-	3	10573	c.10538C>T	c.(10537-10539)gCg>gTg	p.A3513V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3513	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTGTCCGCCTGAGTGGA	0.562									Ichthyosis				G|||	1	0.000199681	0	0	5008	,	,		20254	0		0.001	False		,,,				2504	0					uc001ezu.1																			0		p.A3513A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10537-10539)gCg>gTg		Homo sapiens filaggrin (FLG), mRNA.							228	222	224					1																	152276824		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276824G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10538C>T	1.37:g.152276824G>A	ENSP00000357789:p.Ala3513Val						p.A3513V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10574	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3513			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10538C>T	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.44	1.352152	0.24512	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	2.21	1.26	0.21427	.	.	.	.	.	T	0.03305	0.0096	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38243	-0.9670	9	0.39692	T	0.17	.	6.566	0.22513	0.0:0.4624:0.5376:0.0	.	3513	P20930	FILA_HUMAN	V	3513	ENSP00000357789:A3513V	ENSP00000357789:A3513V	A	-	2	0	FLG	150543448	0.038000	0.19896	0.000000	0.03702	0.003000	0.03518	0.711000	0.25764	0.476000	0.27440	0.398000	0.26397	GCG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152276824	G	A	152276824	3	1	186	1	0	0	0	0	1	0	0	0	5922	1087	38	1	1651	1	FLG	1	152276824	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	33678424	152276824	96973797	5	13114											
FLG	2312	broad.mit.edu	37	chr1	152286487	152286487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctaactctggatcccctaCgctttcttgtcctggactcc	5	13	8	15	1	2	0	0	0	2	0	5	2	5	2	4	3	2	2	4	3	2	4	rs200504242		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152286487C>T	ENST00000368799.1	-	3	910	c.875G>A	c.(874-876)cGt>cAt	p.R292H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	292	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCCTACGCTTTCTTGT	0.502									Ichthyosis				-|||	1	0.000199681	0	0	5008	,	,		20854	0.001		0	False		,,,				2504	0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(874-876)cGt>cAt		Homo sapiens filaggrin (FLG), mRNA.		C	HIS/ARG	0,4406		0,0,2203	256	263	261		875	-3.5	0	1		261	1,8599		0,1,4299	yes	missense	FLG	NM_002016.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	292/4062	152286487	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286487C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.875G>A	1.37:g.152286487C>T	ENSP00000357789:p.Arg292His					AK056431_uc001ezv.3_Non-coding_Transcript	p.R292H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	911	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		292			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.875G>A	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	4.817	0.151887	0.09185	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.01335	5.0	2.56	-3.55	0.04639	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	P	0.39737	0.685	B	0.27887	0.084	T	0.49513	-0.8932	9	0.56958	D	0.05	-0.0331	8.024	0.30425	0.0:0.5946:0.0:0.4054	.	292	P20930	FILA_HUMAN	H	292	ENSP00000357789:R292H	ENSP00000357789:R292H	R	-	2	0	FLG	150553111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.849000	0.04322	-0.663000	0.05331	-0.498000	0.04607	CGT		0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286487	C	T	152286487	3	4	186	1	0	0	0	0	1	0	0	0	5922	536	19	1	11314	1	FLG	1	152286487	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	9663	152286487	96964134	6	13115											
CRNN	49860	broad.mit.edu	37	chr1	152382849	152382849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagtctgggtggcacCtgcctgggtctgagttccag	5	10	13	13	0	2	1	0	1	2	0	4	1	4	1	4	3	1	2	4	3	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152382849C>A	ENST00000271835.3	-	3	771	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	237	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGGCACCTGCCTGGGTC	0.582																																						uc001ezx.2																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(709-711)Ggt>Tgt		Homo sapiens cornulin (CRNN), mRNA.							252	255	254					1																	152382849		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382849C>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.709G>T	1.37:g.152382849C>A	ENSP00000271835:p.Gly237Cys						p.G237C	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	783	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		237			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.709G>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870141	0.51588	.	.	ENSG00000143536	ENST00000271835	T	0.06218	3.33	4.93	3.07	0.35406	.	0.125783	0.36444	N	0.002587	T	0.04588	0.0125	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	P	0.60173	0.87	T	0.27673	-1.0067	10	0.52906	T	0.07	.	7.5832	0.27976	0.0:0.8069:0.0:0.1931	.	237	Q9UBG3	CRNN_HUMAN	C	237	ENSP00000271835:G237C	ENSP00000271835:G237C	G	-	1	0	CRNN	150649473	0.001000	0.12720	0.007000	0.13788	0.047000	0.14425	0.397000	0.20883	0.670000	0.31165	0.585000	0.79938	GGT		0.582	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		A	152382849	C	A	152382849	3	1	186	1	0	0	0	0	1	0	0	0	3892	681	24	5	782	5	CRNN	1	152382849	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	96362	152382849	96867772	7	13116											
CACNA1E	777	broad.mit.edu	37	chr1	181549749	181549749	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattctagaaggatttgAcccccctcacccatgtggtg	9	11	10	11	0	2	2	1	1	1	1	2	3	2	3	4	3	0	1	4	3	3	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:181549749A>T	ENST00000367573.2	+	6	788	c.788A>T	c.(787-789)gAc>gTc	p.D263V	CACNA1E_ENST00000357570.5_Missense_Mutation_p.D214V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D263V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D214V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D263V|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.D263V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCAC	0.507																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(787-789)gAc>gTc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							189	183	185					1																	181549749		1977	4155	6132	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749A>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.788A>T	1.37:g.181549749A>T	ENSP00000356545:p.Asp263Val					CACNA1E_uc001gow.3_Missense_Mutation_p.D263V|CACNA1E_uc009wxs.3_Missense_Mutation_p.D263V|CACNA1E_uc009wxr.3_Missense_Mutation_p.D170V	p.D263V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			5	983	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.788A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791464	0.70452	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97575	-4.44;-4.05;-4.04;-4.05;-4.04;-4.05;-4.06	4.97	4.97	0.65823	.	0.155567	0.56097	D	0.000034	D	0.97576	0.9206	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.96888	0.9651	10	0.26408	T	0.33	.	14.3141	0.66437	1.0:0.0:0.0:0.0	.	263;263	Q15878-2;Q15878-3	.;.	V	263;263;263;214;214;263;263	ENSP00000432038:D263V;ENSP00000356542:D263V;ENSP00000434814:D263V;ENSP00000350183:D214V;ENSP00000351101:D214V;ENSP00000353222:D263V;ENSP00000356545:D263V	ENSP00000350183:D214V	D	+	2	0	CACNA1E	179816372	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.737000	0.84957	1.876000	0.54355	0.459000	0.35465	GAC		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181549749	A	T	181549749	3	4	186	1	0	0	0	0	1	0	0	0	2542	275	10	5	810	5	CACNA1E	1	181549749	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	29166900	181549749	67700872	8	13117											
LHCGR	3973	broad.mit.edu	37	chr2	48958384	48958384	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatttttatgacctcattaAgtcctctgaaagcttgagat	12	15	6	8	0	2	3	1	3	1	1	3	4	3	3	2	0	1	1	2	0	3	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:48958384A>T	ENST00000294954.7	-	2	236	c.215T>A	c.(214-216)cTt>cAt	p.L72H	LHCGR_ENST00000401907.1_Missense_Mutation_p.L72H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L72H|LHCGR_ENST00000403273.1_Missense_Mutation_p.L72H|LHCGR_ENST00000344775.3_Missense_Mutation_p.L72H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	72					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GACCTCATTAAGTCCTCTGAA	0.338																																						uc002rwu.4																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(214-216)cTt>cAt		Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						90	92	91					2																	48958384		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48958384A>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.215T>A	2.37:g.48958384A>T	ENSP00000294954:p.Leu72His					STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	p.L72H	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	285	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	72					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.215T>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726706	0.69074	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	D;D;D;D;D;D	0.91843	-2.92;-2.88;-2.92;-2.92;-2.88;-2.14	5.89	5.89	0.94794	.	0.066878	0.64402	D	0.000009	D	0.97514	0.9186	H	0.97732	4.065	0.47123	D	0.999321	D	0.89917	1.0	D	0.97110	1.0	D	0.98669	1.0687	9	.	.	.	.	14.0313	0.64617	1.0:0.0:0.0:0.0	.	72	P22888	LSHR_HUMAN	H	72;72;72;72;72;38	ENSP00000344301:L72H;ENSP00000294954:L72H;ENSP00000386033:L72H;ENSP00000385847:L72H;ENSP00000385406:L72H;ENSP00000403748:L38H	.	L	-	2	0	LHCGR	48811888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.613000	0.67688	2.247000	0.74100	0.482000	0.46254	CTT		0.338	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		T	48958384	A	T	48958384	3	4	186	1	0	0	0	0	1	0	0	0	8762	72	3	5	1924	5	LHCGR	2	48958384	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08		48958384	194240989	9	13118											
TSGA10	80705	broad.mit.edu	37	chr2	99636771	99636771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgccaaacaaaggtgttCtttaagaagctgaatttcag	13	13	8	7	0	3	2	1	1	2	1	3	2	3	2	1	1	3	2	1	1	5	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:99636771C>T	ENST00000393483.3	-	18	2633	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	TSGA10_ENST00000539964.1_Missense_Mutation_p.E597K|TSGA10_ENST00000410001.1_Missense_Mutation_p.E597K|TSGA10_ENST00000355053.4_Missense_Mutation_p.E597K	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	597	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CAAAGGTGTTCTTTAAGAAGC	0.323																																						uc002szg.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1789-1791)Gaa>Aaa		Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.							73	71	72					2																	99636771		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99636771C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1789G>A	2.37:g.99636771C>T	ENSP00000377123:p.Glu597Lys					TSGA10_uc002szh.4_Missense_Mutation_p.E597K|TSGA10_uc002szi.4_Missense_Mutation_p.E597K|TSGA10_uc010fin.1_Missense_Mutation_p.E597K	p.E597K	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			15	2417	-			597			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1789G>A	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172336	0.94807	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.79454	2.61;2.61;2.61;2.61;-1.27;2.61	5.3	5.3	0.74995	.	0.067785	0.64402	D	0.000020	T	0.81039	0.4740	L	0.48642	1.525	0.80722	D	1	D	0.58268	0.982	P	0.54965	0.765	T	0.77427	-0.2592	10	0.27785	T	0.31	-16.3931	18.1183	0.89563	0.0:1.0:0.0:0.0	.	597	Q9BZW7	TSG10_HUMAN	K	597;597;597;597;527;597	ENSP00000377123:E597K;ENSP00000386956:E597K;ENSP00000347161:E597K;ENSP00000444419:E597K;ENSP00000386508:E527K;ENSP00000377122:E597K	ENSP00000347161:E597K	E	-	1	0	TSGA10	99003203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.601000	0.67606	2.759000	0.94783	0.650000	0.86243	GAA		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		T	99636771	C	T	99636771	3	4	186	1	0	0	0	0	1	0	0	0	16614	922	32	3	323	3	TSGA10	2	99636771	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	50678387	99636771	143562602	10	13119											
GPD2	2820	broad.mit.edu	37	chr2	157439407	157439407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagagttccaattccagtgGaccgtagttgtggaggattg	10	11	14	6	1	0	1	0	0	0	1	2	5	2	4	3	3	0	3	3	3	3	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:157439407G>A	ENST00000310454.6	+	17	2533	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409674.1_Missense_Mutation_p.D721N|GPD2_ENST00000438166.2_Missense_Mutation_p.D721N|GPD2_ENST00000409125.4_Missense_Mutation_p.D494N	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	721					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AATTCCAGTGGACCGTAGTTG	0.443																																						uc002tzf.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(2161-2163)Gac>Aac		Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							88	83	85					2																	157439407		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157439407G>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.2161G>A	2.37:g.157439407G>A	ENSP00000308610:p.Asp721Asn					GPD2_uc010zch.2_Missense_Mutation_p.D494N|GPD2_uc002tzd.4_Missense_Mutation_p.D721N|GPD2_uc002tze.1_Non-coding_Transcript|GPD2_uc021vrl.1_5'Flank	p.D721N	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			16	2521	+			721					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.2161G>A	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291372	0.59976	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.58210	0.35;0.59;0.35;0.35	5.22	5.22	0.72569	.	0.045098	0.85682	D	0.000000	T	0.48466	0.1501	L	0.49126	1.545	0.58432	D	0.999995	B	0.15141	0.012	B	0.18561	0.022	T	0.42565	-0.9444	10	0.41790	T	0.15	.	14.3866	0.66949	0.0:0.1478:0.8522:0.0	.	721	P43304	GPDM_HUMAN	N	721;494;721;721	ENSP00000308610:D721N;ENSP00000386484:D494N;ENSP00000409708:D721N;ENSP00000386425:D721N	ENSP00000308610:D721N	D	+	1	0	GPD2	157147653	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.412000	0.80091	2.436000	0.82500	0.313000	0.20887	GAC		0.443	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157439407	G	A	157439407	3	1	186	1	0	0	0	0	1	0	0	0	6606	1174	41	3	2223	3	GPD2	2	157439407	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	57802636	157439407	85759966	11	13120											
XIRP2	129446	broad.mit.edu	37	chr2	168098387	168098387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagatcctttattctgaCaaagagatgacaaccccagc	16	8	7	10	0	1	4	0	2	1	2	2	6	2	4	3	0	2	0	3	0	5	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:168098387C>T	ENST00000409728.1	+	9	1331	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	XIRP2_ENST00000409043.1_Silent_p.D381D|XIRP2_ENST00000409273.1_Silent_p.D159D|XIRP2_ENST00000409756.2_Silent_p.D381D|XIRP2_ENST00000409605.1_Silent_p.D159D|XIRP2_ENST00000409195.1_Silent_p.D381D|XIRP2_ENST00000295237.9_Silent_p.D381D|XIRP2_ENST00000420519.1_Silent_p.D414D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	206					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTATTCTGACAAAGAGATGA	0.368																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1141-1143)gaC>gaT		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							123	117	119					2																	168098387		1834	4078	5912	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168098387C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1242C>T	2.37:g.168098387C>T						XIRP2_uc010fpn.3_Silent_p.D414D|XIRP2_uc010fpo.3_Silent_p.D381D|XIRP2_uc002udy.3_Silent_p.D206D|XIRP2_uc010fpq.3_Silent_p.D159D|XIRP2_uc010fpr.3_Silent_p.D159D	p.D381D	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			7	1232	+			206					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.1143C>T	CCDS56143.1																																																																																				0.368	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		T	168098387	C	T	168098387	2	4	186	1	0	0	0	0	0	0	0	1	17427	477	17	3		3	XIRP2	2	168098387	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	10658980	168098387	75100986	12	13121											
ALS2CR8	79800	broad.mit.edu	37	chr2	203846966	203846966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccttcaaagagatacaTgcttaacccaaaacaatagt	18	9	5	9	0	1	1	1	0	0	1	1	2	1	1	2	0	5	1	2	0	8	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:203846966T>C	ENST00000402905.3	+	15	2182	c.1861T>C	c.(1861-1863)Tgc>Cgc	p.C621R	CARF_ENST00000414439.1_Missense_Mutation_p.C519R|CARF_ENST00000438828.2_Missense_Mutation_p.C621R|CARF_ENST00000545262.1_Missense_Mutation_p.C545R|CARF_ENST00000545253.1_Missense_Mutation_p.C533R|WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.C621R|CARF_ENST00000428585.1_Missense_Mutation_p.C545R	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	621					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGAGATACATGCTTAACCCA	0.418																																						uc002uzo.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						c.(1861-1863)Tgc>Cgc		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.							107	98	101					2																	203846966		1908	4126	6034	SO:0001583	missense	79800							g.chr2:203846966T>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1861T>C	2.37:g.203846966T>C	ENSP00000384006:p.Cys621Arg					ALS2CR8_uc010zia.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zib.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zic.1_Missense_Mutation_p.C533R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	p.C621R	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN			14	2141	+			621					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1861T>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261723	0.59431	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.67	4.52	0.55395	.	0.271843	0.36303	N	0.002680	T	0.53481	0.1799	L	0.55481	1.735	0.49915	D	0.999834	D;D;P	0.53151	0.958;0.958;0.928	P;P;P	0.51135	0.568;0.66;0.549	T	0.54807	-0.8238	9	0.59425	D	0.04	-0.3984	6.3597	0.21420	0.0:0.0827:0.1715:0.7458	.	533;545;621	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	R	621;519;545;533;545;621;621	.	ENSP00000316224:C621R	C	+	1	0	ALS2CR8	203555211	0.991000	0.36638	0.997000	0.53966	0.995000	0.86356	1.339000	0.33885	0.991000	0.38814	0.533000	0.62120	TGC		0.418	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		C	203846966	T	C	203846966	3	2	186	1	0	0	0	0	1	0	0	0	555	1464	51	4	1911	4	ALS2CR8	2	203846966	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	35748579	203846966	39352407	13	13122											
EPHA4	2043	broad.mit.edu	37	chr2	222428934	222428934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcaagtccccatgaCgcccggaagactattgcagt	9	9	9	14	2	0	2	0	1	0	1	2	3	2	3	4	1	2	2	4	1	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:222428934C>T	ENST00000281821.2	-	3	381	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	EPHA4_ENST00000409854.1_Missense_Mutation_p.V114I|EPHA4_ENST00000392071.4_Missense_Mutation_p.V63I|EPHA4_ENST00000409938.1_Missense_Mutation_p.V114I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	114	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCCCCATGACGCCCGGAAGA	0.453																																						uc002vmq.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(340-342)Gtc>Atc		Homo sapiens EPH receptor A4 (EPHA4), mRNA.							128	124	125					2																	222428934		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428934C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.340G>A	2.37:g.222428934C>T	ENSP00000281821:p.Val114Ile					EPHA4_uc002vmr.2_Missense_Mutation_p.V114I|EPHA4_uc010zlm.1_Missense_Mutation_p.V55I	p.V114I	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	2	382	-		Renal(207;0.0183)	114					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.340G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316897	0.60524	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83;3.83	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.054165	0.64402	D	0.000001	T	0.10852	0.0265	M	0.70275	2.135	0.80722	D	1	D	0.55385	0.971	P	0.46659	0.523	T	0.00872	-1.1532	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	114	P54764	EPHA4_HUMAN	I	114;114;114;63;55;114	ENSP00000281821:V114I;ENSP00000386276:V114I;ENSP00000386829:V114I;ENSP00000375923:V63I;ENSP00000410158:V55I;ENSP00000444085:V114I	ENSP00000281821:V114I	V	-	1	0	EPHA4	222137178	1.000000	0.71417	0.968000	0.41197	0.167000	0.22549	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTC		0.453	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			T	222428934	C	T	222428934	3	4	186	1	0	0	0	0	1	0	0	0	5169	536	19	1	2680	1	EPHA4	2	222428934	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	18581968	222428934	20770439	14	13123											
RPL32	6161	broad.mit.edu	37	chr3	12881707	12881707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctctttttgacgatcttGggcttcacaaggggtctgag	6	15	12	8	1	4	2	1	2	3	0	5	3	4	2	0	3	0	2	0	3	1	5	rs144517633		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:12881707G>A	ENST00000429711.2	-	2	129	c.30C>T	c.(28-30)ccC>ccT	p.P10P	RPL32_ENST00000273223.6_Silent_p.P10P|RPL32_ENST00000396953.2_Silent_p.P10P|RPL32_ENST00000435983.1_Silent_p.P10P|RPL32_ENST00000396957.1_Silent_p.P10P|SNORA7A_ENST00000384765.1_RNA	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGACGATCTTGGGCTTCACAA	0.537																																						uc003bxl.3																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(28-30)ccC>ccT		Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	140	157	151		30,30,30	3.3	1	3	dbSNP_134	151	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RPL32	NM_000994.3,NM_001007073.1,NM_001007074.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	10/136,10/136,10/136	12881707	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12881707G>A	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.30C>T	3.37:g.12881707G>A						RPL32_uc003bxm.3_Silent_p.P10P|RPL32_uc003bxn.3_Silent_p.P10P	p.P10P	NM_001007074	NP_001007075	P62910	RL32_HUMAN			0	243	-			10					B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	c.30C>T	CCDS2614.1																																																																																				0.537	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		A	12881707	G	A	12881707	2	1	186	1	0	0	0	0	0	0	0	1	13582	1335	47	3		3	RPL32	3	12881707	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		12881707	185140723	15	13124											
CELSR3	1951	broad.mit.edu	37	chr3	48697393	48697393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggagataggtgataCgagcattctcacccacgtca	11	8	9	13	2	2	2	2	1	1	1	4	4	3	2	3	2	2	1	3	2	2	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:48697393C>T	ENST00000164024.4	-	1	2955	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R892H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	892	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGGTGATACGAGCATTCTC	0.517																																						uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2884-2886)cGt>cAt		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							106	92	97					3																	48697393		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697393C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2675G>A	3.37:g.48697393C>T	ENSP00000164024:p.Arg892His					CELSR3_uc003cul.3_Missense_Mutation_p.R892H	p.R962H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	2885	-			892			Cadherin 7.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2885G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230138	0.79688	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.54479	0.57;0.57	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72277	0.3440	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73616	-0.3926	9	0.87932	D	0	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	892;962	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	892	ENSP00000164024:R892H;ENSP00000445694:R892H	ENSP00000164024:R892H	R	-	2	0	CELSR3	48672397	1.000000	0.71417	0.939000	0.37840	0.958000	0.62258	5.920000	0.70017	2.676000	0.91093	0.561000	0.74099	CGT		0.517	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48697393	C	T	48697393	3	4	186	1	0	0	0	0	1	0	0	0	3223	536	19	1	7403	1	CELSR3	3	48697393	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	35815686	48697393	149325037	16	13125											
MYH15	22989	broad.mit.edu	37	chr3	108189636	108189636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgttgatccgtgccactAgccacttaaacatcctttca	9	12	5	15	1	1	1	1	1	0	0	3	1	3	1	5	0	3	1	5	0	3	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:108189636A>G	ENST00000273353.3	-	14	1408	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	451	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCGTGCCACTAGCCACTTAAA	0.458																																						uc003dxa.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1351-1353)cTa>cCa		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							100	92	94					3																	108189636		1994	4161	6155	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108189636A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1352T>C	3.37:g.108189636A>G	ENSP00000273353:p.Leu451Pro						p.L451P	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			13	1409	-			451			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1352T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235467	0.79800	.	.	ENSG00000144821	ENST00000273353	D	0.90004	-2.6	5.77	4.59	0.56863	Myosin head, motor domain (2);	.	.	.	.	D	0.96965	0.9009	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97297	0.9928	9	0.87932	D	0	.	12.8976	0.58108	0.8641:0.1359:0.0:0.0	.	451	Q9Y2K3	MYH15_HUMAN	P	451	ENSP00000273353:L451P	ENSP00000273353:L451P	L	-	2	0	MYH15	109672326	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.078000	0.71282	0.970000	0.38263	0.528000	0.53228	CTA		0.458	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		G	108189636	A	G	108189636	3	3	186	1	0	0	0	0	1	0	0	0	10034	420	15	4	4604	4	MYH15	3	108189636	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	59492243	108189636	89832794	17	13126											
PHLDB2	90102	broad.mit.edu	37	chr3	111604066	111604066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagtttttgcgaccaggaGgaacttctcttgtggatctg	8	13	12	8	1	2	1	0	0	2	1	3	5	2	4	1	3	2	1	1	3	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:111604066G>A	ENST00000431670.2	+	2	1553	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	PHLDB2_ENST00000478922.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R381K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R408K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R381K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	381						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCGACCAGGAGGAACTTCTCT	0.517																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1141-1143)aGg>aAg		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							85	85	85					3																	111604066		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111604066G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1142G>A	3.37:g.111604066G>A	ENSP00000405405:p.Arg381Lys					PHLDB2_uc003dyc.3_Missense_Mutation_p.R408K|PHLDB2_uc003dyd.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyg.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyh.3_Missense_Mutation_p.R381K|PHLDB2_uc003dye.4_Missense_Mutation_p.R381K|PHLDB2_uc003dyf.4_Missense_Mutation_p.R381K	p.R381K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			1	1553	+			381					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1142G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971428	0.74246	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.35048	1.33;1.38;1.34;1.35;1.38;1.34	5.78	5.78	0.91487	.	0.090924	0.85682	D	0.000000	T	0.46190	0.1380	L	0.31420	0.93	0.44036	D	0.996768	D;D;D;D;D	0.71674	0.965;0.998;0.998;0.99;0.99	B;D;D;P;P	0.77557	0.437;0.99;0.99;0.789;0.789	T	0.09907	-1.0653	10	0.11485	T	0.65	.	17.2809	0.87128	0.0:0.0:1.0:0.0	.	381;381;381;381;408	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	408;408;381;381;381;381;381;381;381	ENSP00000377500:R408K;ENSP00000405405:R381K;ENSP00000405292:R381K;ENSP00000418296:R381K;ENSP00000377502:R381K;ENSP00000418319:R381K	ENSP00000352764:R408K	R	+	2	0	PHLDB2	113086756	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.369000	0.73109	2.894000	0.99253	0.655000	0.94253	AGG		0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		A	111604066	G	A	111604066	3	1	186	1	0	0	0	0	1	0	0	0	11852	1000	35	3	1229	3	PHLDB2	3	111604066	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	3414430	111604066	86418364	18	13127											
EPHB1	2047	broad.mit.edu	37	chr3	134920351	134920351	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccgtgatccagcttgtGggtatgctcaggggcatcgc	6	11	13	11	2	2	1	2	1	0	0	4	1	3	1	2	3	2	4	2	3	1	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:134920351G>T	ENST00000398015.3	+	12	2536	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	EPHB1_ENST00000493838.1_Silent_p.V283V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCAGCTTGTGGGTATGCTCA	0.507																																						uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2164-2166)gtG>gtT		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							222	221	221					3																	134920351		2203	4300	6503	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920351G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2166G>T	3.37:g.134920351G>T						EPHB1_uc003equ.3_Silent_p.V283V	p.V722V	NM_004441	NP_004432	P54762	EPHB1_HUMAN			11	2541	+			722			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2166G>T	CCDS46921.1																																																																																				0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134920351	G	T	134920351	2	4	186	1	0	0	0	0	0	0	0	1	5174	1335	47	5		5	EPHB1	3	134920351	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	23316285	134920351	63102079	19	13128											
PRR23C	389152	broad.mit.edu	37	chr3	138763141	138763141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgagcattcgtcgaCggagctcaggaggacctcgg	7	7	14	13	5	1	1	1	1	0	0	5	5	2	4	2	4	2	3	2	4	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:138763141C>T	ENST00000413199.1	-	1	593	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.V108I	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	108										breast(2)|lung(7)|skin(2)	11						CATTCGTCGACGGAGCTCAGG	0.642																																						uc011bmt.1																			0				breast(2)|lung(7)|skin(2)	11						c.(322-324)Gtc>Atc		Homo sapiens proline rich 23C (PRR23C), mRNA.							30	31	31					3																	138763141		692	1591	2283	SO:0001583	missense	389152							g.chr3:138763141C>T		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.322G>A	3.37:g.138763141C>T	ENSP00000396648:p.Val108Ile						p.V108I	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			0	594	-			108						Missense_Mutation	SNP	ENST00000413199.1	37	c.322G>A	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	C	8.173	0.792077	0.16258	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	2.87	-0.651	0.11454	.	3.370080	0.02661	U	0.107497	T	0.27594	0.0678	L	0.51422	1.61	0.09310	N	1	P	0.42973	0.796	B	0.34991	0.193	T	0.19063	-1.0317	9	0.34782	T	0.22	.	3.1267	0.06409	0.0:0.4306:0.2195:0.3498	.	108	Q6ZRP0	PR23C_HUMAN	I	108	.	ENSP00000396648:V108I	V	-	1	0	PRR23C	140245831	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.495000	0.06443	-0.145000	0.11294	-0.834000	0.03071	GTC		0.642	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		T	138763141	C	T	138763141	3	4	186	1	0	0	0	0	1	0	0	0	12596	536	19	1	470	1	PRR23C	3	138763141	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	3842790	138763141	59259289	20	13129											
MBNL1	4154	broad.mit.edu	37	chr3	152018056	152018056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtagagagttccagagggGgacttgctcacggccagaca	11	7	14	9	1	1	3	1	0	0	3	2	5	2	4	2	3	1	3	2	3	1	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152018056G>A	ENST00000463374.1	+	1	585	c.74G>A	c.(73-75)gGg>gAg	p.G25E	MBNL1_ENST00000357472.3_Missense_Mutation_p.G25E|MBNL1_ENST00000324210.5_Missense_Mutation_p.G25E|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000498502.1_Missense_Mutation_p.G25E|MBNL1_ENST00000492948.1_Missense_Mutation_p.G25E|MBNL1_ENST00000545754.1_Missense_Mutation_p.G25E|MBNL1_ENST00000485509.1_Missense_Mutation_p.G25E|MBNL1_ENST00000355460.2_Missense_Mutation_p.G25E|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.G25E|MBNL1_ENST00000282488.7_Missense_Mutation_p.G25E|MBNL1_ENST00000324196.5_Missense_Mutation_p.G25E|MBNL1_ENST00000485910.1_Missense_Mutation_p.G25E	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	25					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCAGAGGGGGACTTGCTCA	0.428																																						uc003ezm.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(73-75)gGg>gAg		Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.							107	102	104					3																	152018056		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152018056G>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.74G>A	3.37:g.152018056G>A	ENSP00000418108:p.Gly25Glu					MBNL1_uc003ezh.3_Missense_Mutation_p.G25E|MBNL1_uc003ezi.3_Missense_Mutation_p.G25E|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Missense_Mutation_p.G25E|MBNL1_uc003ezp.3_Missense_Mutation_p.G25E|MBNL1_uc003ezn.3_Missense_Mutation_p.G25E|MBNL1_uc003ezo.3_Missense_Mutation_p.G25E|MBNL1_uc003ezk.1_Non-coding_Transcript	p.G25E	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		0	863	+			25					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.74G>A	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.884843|3.884843	0.72410|0.72410	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509|ENST00000464596	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.69435|0.69561	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4|-0.41	5.43|5.43	5.43|5.43	0.79202|0.79202	Zinc finger, CCCH-type (2);|.	0.052436|0.052436	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87148|0.87148	0.6105|0.6105	M|M	0.93462|0.93462	3.42|3.42	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.996;0.996;0.998;0.996|.	D;D;D;D;D;D;D|.	0.97110|.	0.978;1.0;1.0;0.969;0.931;0.987;0.953|.	D|D	0.90235|0.90235	0.4282|0.4282	10|8	0.87932|0.87932	D|D	0|0	.|.	19.297|19.297	0.94126|0.94126	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25;25;25;25;25;25;25|.	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92|.	.;.;.;MBNL1_HUMAN;.;.;.|.	E|R	25|24	ENSP00000282486:G25E;ENSP00000282488:G25E;ENSP00000347637:G25E;ENSP00000319429:G25E;ENSP00000420327:G25E;ENSP00000319374:G25E;ENSP00000437491:G25E;ENSP00000350064:G25E;ENSP00000418427:G25E;ENSP00000418108:G25E;ENSP00000417630:G25E;ENSP00000420103:G25E;ENSP00000418876:G25E|ENSP00000418109:G24R	ENSP00000282486:G25E|ENSP00000418109:G24R	G|G	+|+	2|1	0|0	MBNL1|MBNL1	153500746|153500746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.662000|9.662000	0.98603|0.98603	2.561000|2.561000	0.86390|0.86390	0.586000|0.586000	0.80456|0.80456	GGG|GGA		0.428	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		A	152018056	G	A	152018056	3	1	186	1	0	0	0	0	1	0	0	0	9353	1232	43	3	76	3	MBNL1	3	152018056	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	13254915	152018056	46004374	21	13130											
MBNL1	4154	broad.mit.edu	37	chr3	152132751	152132751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgctccagggagaacTgcaaatatcttcatccaccc	10	9	8	14	1	2	1	1	0	1	1	4	2	4	1	4	1	3	3	4	1	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152132751T>A	ENST00000463374.1	+	2	707	c.196T>A	c.(196-198)Tgc>Agc	p.C66S	MBNL1_ENST00000357472.3_Missense_Mutation_p.C66S|MBNL1_ENST00000324210.5_Missense_Mutation_p.C66S|MBNL1_ENST00000498502.1_Missense_Mutation_p.C66S|MBNL1_ENST00000492948.1_Missense_Mutation_p.C66S|MBNL1_ENST00000545754.1_Missense_Mutation_p.C66S|MBNL1_ENST00000485509.1_Missense_Mutation_p.C66S|MBNL1_ENST00000355460.2_Missense_Mutation_p.C66S|MBNL1_ENST00000493459.1_Missense_Mutation_p.C9S|MBNL1_ENST00000282486.6_Missense_Mutation_p.C66S|MBNL1_ENST00000282488.7_Missense_Mutation_p.C66S|MBNL1_ENST00000324196.5_Missense_Mutation_p.C66S|MBNL1_ENST00000485910.1_Missense_Mutation_p.C66S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	66					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAGGGAGAACTGCAAATATCT	0.393																																						uc003ezm.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(196-198)Tgc>Agc		Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.							111	106	108					3																	152132751		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152132751T>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.196T>A	3.37:g.152132751T>A	ENSP00000418108:p.Cys66Ser					MBNL1_uc003ezh.3_Missense_Mutation_p.C66S|MBNL1_uc003ezi.3_Missense_Mutation_p.C66S|MBNL1_uc003ezj.3_Missense_Mutation_p.C9S|MBNL1_uc003ezl.3_Missense_Mutation_p.C66S|MBNL1_uc003ezp.3_Missense_Mutation_p.C66S|MBNL1_uc003ezn.3_Missense_Mutation_p.C66S|MBNL1_uc003ezo.3_Missense_Mutation_p.C66S|MBNL1_uc010hvp.3_5'UTR	p.C66S	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	985	+			66					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.196T>A	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.251015	0.80135	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.8	5.8	0.92144	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	H	0.94264	3.515	0.80722	D	1	D;B;B;D;D;P;D;D	0.89917	1.0;0.265;0.265;0.957;1.0;0.928;1.0;1.0	D;B;B;D;D;P;D;D	0.91635	0.98;0.236;0.236;0.913;0.999;0.806;0.999;0.999	D	0.84536	0.0636	10	0.87932	D	0	.	16.1606	0.81704	0.0:0.0:0.0:1.0	.	66;66;66;66;66;9;66;66	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;.;MBNL1_HUMAN;.;.;.;.	S	66;66;66;9;66;10;66;66;66;66;66;66;66;66;66	ENSP00000282486:C66S;ENSP00000282488:C66S;ENSP00000347637:C66S;ENSP00000419347:C9S;ENSP00000319429:C66S;ENSP00000417169:C10S;ENSP00000420327:C66S;ENSP00000319374:C66S;ENSP00000437491:C66S;ENSP00000350064:C66S;ENSP00000418427:C66S;ENSP00000418108:C66S;ENSP00000417630:C66S;ENSP00000420103:C66S;ENSP00000418876:C66S	ENSP00000282486:C66S	C	+	1	0	MBNL1	153615441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.930000	0.87610	2.227000	0.72691	0.460000	0.39030	TGC		0.393	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		A	152132751	T	A	152132751	3	1	186	1	0	0	0	0	1	0	0	0	9353	1580	55	5	202	5	MBNL1	3	152132751	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	114695	152132751	45889679	22	13131											
ALG3	10195	broad.mit.edu	37	chr3	183960423	183960423	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgcaggatgtggaagggTatgtgttccaggagagctcg	9	9	17	6	1	0	1	0	0	0	1	2	4	1	3	1	4	3	5	1	4	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:183960423T>G	ENST00000397676.3	-	9	1226	c.1196A>C	c.(1195-1197)tAc>tCc	p.Y399S	ALG3_ENST00000418734.2_Missense_Mutation_p.Y343S|ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.Y351S|ALG3_ENST00000455059.1_Missense_Mutation_p.Y359S|MIR1224_ENST00000408193.1_RNA	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	399					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGGAAGGGTATGTGTTCCA	0.587																																						uc003fne.2																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(1195-1197)tAc>tCc		Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.							59	64	63					3																	183960423		2073	4221	6294	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960423T>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1196A>C	3.37:g.183960423T>G	ENSP00000380793:p.Tyr399Ser					ALG3_uc011brc.1_Missense_Mutation_p.Y364S|ALG3_uc011brd.1_Missense_Mutation_p.Y343S|ALG3_uc011bre.1_Missense_Mutation_p.Y351S	p.Y399S	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1227	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		399					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1196A>C	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690069	0.68271	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.62	5.62	0.85841	.	0.076131	0.56097	U	0.000039	D	0.96018	0.8703	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.78314	0.955;0.991;0.991;0.991	D	0.96424	0.9314	10	0.72032	D	0.01	-14.634	10.2738	0.43497	0.1473:0.0:0.0:0.8527	.	351;343;359;399	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	S	343;399;351;359	ENSP00000402976:Y343S;ENSP00000380793:Y399S;ENSP00000402744:Y351S;ENSP00000397613:Y359S	ENSP00000380793:Y399S	Y	-	2	0	ALG3	185443117	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.116000	0.71571	2.137000	0.66172	0.379000	0.24179	TAC		0.587	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		G	183960423	T	G	183960423	3	3	186	1	0	0	0	0	1	0	0	0	520	1638	57	5	124	5	ALG3	3	183960423	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	31827672	183960423	14062007	23	13132											
FRAS1	80144	broad.mit.edu	37	chr4	79400664	79400664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgagtcgtgtgatattcggGcctggtgtgaccatgtccac	6	11	14	10	3	0	2	0	2	0	0	3	3	1	2	3	2	0	0	3	2	1	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:79400664G>A	ENST00000264895.6	+	56	8675	c.8235G>A	c.(8233-8235)ggG>ggA	p.G2745G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2741	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATATTCGGGCCTGGTGTGA	0.483																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8233-8235)ggG>ggA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							111	110	110					4																	79400664		2109	4228	6337	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400664G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8235G>A	4.37:g.79400664G>A							p.G2745G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			55	8675	+			2740			Calx-beta 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8235G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217926	0.01542	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.72	0.715	0.18186	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21690	-1.0238	4	.	.	.	.	2.8996	0.05701	0.314:0.1091:0.4657:0.1112	.	.	.	.	T	974	.	.	A	+	1	0	FRAS1	79619688	0.526000	0.26298	0.952000	0.39060	0.009000	0.06853	-0.388000	0.07352	0.101000	0.17610	0.644000	0.83932	GCC		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79400664	G	A	79400664	2	1	186	1	0	0	0	0	0	0	0	1	6042	1190	42	3		3	FRAS1	4	79400664	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		79400664	111753612	24	13133											
ENPEP	2028	broad.mit.edu	37	chr4	111474494	111474494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggatttgctcaaggacaCgaaccttattaaaactcagg	13	12	8	8	1	2	0	2	0	0	0	2	3	2	2	1	3	3	1	1	3	5	4	rs200338472		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:111474494C>T	ENST00000265162.5	+	18	2867	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	842					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTCAAGGACACGAACCTTATT	0.353																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2524-2526)aCg>aTg		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						179	176	177					4																	111474494		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111474494C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2525C>T	4.37:g.111474494C>T	ENSP00000265162:p.Thr842Met						p.T842M	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	17	2867	+		Hepatocellular(203;0.217)	842					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2525C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906547	0.72868	.	.	ENSG00000138792	ENST00000265162	T	0.05580	3.42	5.4	5.4	0.78164	.	0.673920	0.16064	N	0.231330	T	0.20577	0.0495	L	0.55481	1.735	0.09310	N	0.999997	D	0.76494	0.999	P	0.60886	0.88	T	0.02015	-1.1229	10	0.54805	T	0.06	.	19.1712	0.93578	0.0:1.0:0.0:0.0	.	842	Q07075	AMPE_HUMAN	M	842	ENSP00000265162:T842M	ENSP00000265162:T842M	T	+	2	0	ENPEP	111693943	0.980000	0.34600	0.044000	0.18714	0.978000	0.69477	5.916000	0.69981	2.524000	0.85096	0.650000	0.86243	ACG		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			T	111474494	C	T	111474494	3	4	186	1	0	0	0	0	1	0	0	0	5128	536	19	1	2595	1	ENPEP	4	111474494	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	32073830	111474494	79679782	25	13134											
NR3C2	4306	broad.mit.edu	37	chr4	149357361	149357361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaactgccaaagctggCtgtggtggaggacacagagt	12	7	15	7	0	0	1	0	0	0	1	0	4	0	4	1	5	3	2	1	5	3	0			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:149357361C>T	ENST00000358102.3	-	2	1014	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	NR3C2_ENST00000355292.3_Missense_Mutation_p.A218T|NR3C2_ENST00000511528.1_Missense_Mutation_p.A218T|NR3C2_ENST00000344721.4_Missense_Mutation_p.A218T|NR3C2_ENST00000512865.1_Missense_Mutation_p.A218T	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	218	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCAAAGCTGGCTGTGGTGGAG	0.532																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(652-654)Gcc>Acc		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						53	55	54					4																	149357361		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357361C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.652G>A	4.37:g.149357361C>T	ENSP00000350815:p.Ala218Thr					NR3C2_uc003ilk.4_Missense_Mutation_p.A218T|NR3C2_uc010iph.3_Non-coding_Transcript	p.A218T	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	1	1015	-	all_hematologic(180;0.151)		218			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.652G>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	7.012	0.556993	0.13436	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.35;-2.35;-2.78	5.13	1.43	0.22495	.	0.518629	0.23189	N	0.050939	T	0.78181	0.4243	N	0.12182	0.205	0.22401	N	0.999139	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.61431	-0.7064	9	.	.	.	.	8.7142	0.34401	0.0:0.6248:0.0:0.3752	.	218;218	B0ZBF5;B0ZBF6	.;.	T	218	ENSP00000341390:A218T;ENSP00000347441:A218T;ENSP00000350815:A218T;ENSP00000423510:A218T;ENSP00000343907:A218T;ENSP00000421481:A218T	.	A	-	1	0	NR3C2	149576811	0.640000	0.27243	0.097000	0.21041	0.984000	0.73092	0.761000	0.26489	0.016000	0.14998	0.591000	0.81541	GCC		0.532	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			T	149357361	C	T	149357361	3	4	186	1	0	0	0	0	1	0	0	0	10631	797	28	3	2334	3	NR3C2	4	149357361	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	37882867	149357361	41796915	26	13135											
SOX30	11063	broad.mit.edu	37	chr5	157078493	157078493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcttttgcctgccccGccttgcatcgagtctctcat	3	12	10	16	3	2	0	1	0	1	0	4	1	2	0	5	1	3	2	5	1	0	3	rs371262922		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr5:157078493G>A	ENST00000265007.6	-	1	935	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.G198G	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCCCCGCCTTGCATCG	0.657																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(592-594)ggC>ggT		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							64	75	71					5																	157078493		2197	4289	6486	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078493G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.594C>T	5.37:g.157078493G>A						SOX30_uc003lxc.1_Silent_p.G198G|SOX30_uc011dds.1_Intron	p.G198G	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	936	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	198					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.594C>T	CCDS4339.1																																																																																				0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		A	157078493	G	A	157078493	2	1	186	1	0	0	0	0	0	0	0	1	14952	1074	38	1		1	SOX30	5	157078493	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		157078493	23836767	27	13136											
DDR1	780	broad.mit.edu	37	chr6	30861171	30861171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccctcatgctctggCggctgcactggcgcaggctc	4	10	12	15	2	3	0	2	0	1	0	4	0	3	0	1	4	3	5	1	4	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr6:30861171C>T	ENST00000324771.8	+	12	1866	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	DDR1_ENST00000376575.3_Missense_Mutation_p.R440W|DDR1_ENST00000376567.2_Missense_Mutation_p.R440W|DDR1_ENST00000376570.4_Missense_Mutation_p.R440W|DDR1_ENST00000361741.4_Missense_Mutation_p.R171W|DDR1_ENST00000376569.3_Missense_Mutation_p.R440W|DDR1_ENST00000454612.2_Missense_Mutation_p.R440W|DDR1_ENST00000508312.1_Missense_Mutation_p.R458W|DDR1_ENST00000418800.2_Missense_Mutation_p.R440W|DDR1_ENST00000376568.3_Missense_Mutation_p.R440W|DDR1_ENST00000513240.1_Missense_Mutation_p.R440W|DDR1_ENST00000452441.1_Missense_Mutation_p.R440W|DDR1_ENST00000446312.1_3'UTR|MIR4640_ENST00000581824.1_RNA			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	440					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATGCTCTGGCGGCTGCACTG	0.697																																						uc003nrv.3																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1318-1320)Cgg>Tgg		Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	Imatinib(DB00619)						43	32	36					6																	30861171		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30861171C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1318C>T	6.37:g.30861171C>T	ENSP00000318217:p.Arg440Trp					DDR1_uc010jse.3_Missense_Mutation_p.R440W|DDR1_uc003nrq.3_Missense_Mutation_p.R440W|DDR1_uc003nrr.3_Missense_Mutation_p.R440W|DDR1_uc003nrs.3_Missense_Mutation_p.R440W|DDR1_uc003nrt.3_Missense_Mutation_p.R440W|DDR1_uc011dms.2_Missense_Mutation_p.R458W|DDR1_uc003nru.3_Missense_Mutation_p.R440W|DDR1_uc003nry.2_Missense_Mutation_p.R440W|DDR1_uc003nrx.2_Missense_Mutation_p.R440W|DDR1_uc003nrw.1_Missense_Mutation_p.R239W	p.R440W	NM_013994	NP_054700	Q08345	DDR1_HUMAN			8	1360	+			440					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.1318C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054937	0.75960	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.39	0.776	0.18532	.	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	L	0.52011	1.625	0.46678	D	0.999153	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.984;0.972;0.999;0.998	T	0.80476	-0.1366	10	0.87932	D	0	.	13.3602	0.60652	0.7462:0.2538:0.0:0.0	.	458;236;440;440	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	W	440;440;440;440;440;440;440;440;458;440;440;236;171;123	ENSP00000318217:R440W;ENSP00000407699:R440W;ENSP00000406091:R440W;ENSP00000365753:R440W;ENSP00000365759:R440W;ENSP00000365754:R440W;ENSP00000365752:R440W;ENSP00000405039:R440W;ENSP00000422442:R458W;ENSP00000365751:R440W;ENSP00000427552:R440W;ENSP00000398682:R236W;ENSP00000354844:R171W	ENSP00000318217:R440W	R	+	1	2	DDR1	30969150	0.908000	0.30866	1.000000	0.80357	0.996000	0.88848	0.038000	0.13862	0.194000	0.20326	0.561000	0.74099	CGG		0.697	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30861171	C	T	30861171	3	4	186	1	0	0	0	0	1	0	0	0	4336	759	27	1	1352	1	DDR1	6	30861171	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		30861171	140253896	28	13137											
THSD7A	221981	broad.mit.edu	37	chr7	11514021	11514021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacttttcttgtctgcatgCcgacagagcaggaggcctcc	7	11	11	12	1	2	2	0	1	2	1	3	4	3	3	3	2	3	2	3	2	0	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:11514021C>T	ENST00000423059.4	-	8	2443	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	731	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTCTGCATGCCGACAGAGCA	0.512										HNSCC(18;0.044)																												uc021zzo.1																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2191-2193)gGc>gAc		Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.							103	102	103					7																	11514021		2031	4197	6228	SO:0001583	missense	221981					integral to membrane		g.chr7:11514021C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2192G>A	7.37:g.11514021C>T	ENSP00000406482:p.Gly731Asp	HNSCC(18;0.044)				THSD7A_uc021zzn.1_Missense_Mutation_p.G731D	p.G731D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2444	-			731			TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2192G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469926	0.84533	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.71817	-0.6	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93308	0.6682	10	0.62326	D	0.03	.	18.9303	0.92563	0.0:1.0:0.0:0.0	.	731	Q9UPZ6	THS7A_HUMAN	D	731	ENSP00000406482:G731D	ENSP00000262042:G731D	G	-	2	0	THSD7A	11480546	1.000000	0.71417	0.998000	0.56505	0.674000	0.39518	7.776000	0.85560	2.550000	0.86006	0.563000	0.77884	GGC		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		T	11514021	C	T	11514021	3	4	186	1	0	0	0	0	1	0	0	0	15876	739	26	3	2861	3	THSD7A	7	11514021	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		11514021	147624642	29	13138											
IGF2BP3	10643	broad.mit.edu	37	chr7	23509595	23509595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggcccagctctcgtcCgggcagtccacgaacgcgta	7	7	13	14	5	1	1	0	1	1	0	4	2	3	1	3	2	2	3	3	2	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:23509595C>T	ENST00000258729.3	-	1	491	c.135G>A	c.(133-135)ccG>ccA	p.P45P	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	45	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCTCTCGTCCGGGCAGTCCA	0.697																																						uc003swg.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(133-135)ccG>ccA		Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.							40	46	44					7																	23509595		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23509595C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.135G>A	7.37:g.23509595C>T						IGF2BP3_uc003swh.1_Non-coding_Transcript	p.P45P	NM_006547	NP_006538	O00425	IF2B3_HUMAN			0	401	-			45			RRM 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.135G>A	CCDS5382.1																																																																																				0.697	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		T	23509595	C	T	23509595	2	4	186	1	0	0	0	0	0	0	0	1	7575	639	23	2		2	IGF2BP3	7	23509595	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	11995574	23509595	135629068	30	13139											
GNAT3	346562	broad.mit.edu	37	chr7	80117947	80117947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactgtaaattactgctttGaactccatgcattcttgctc	9	17	5	10	0	1	1	0	1	1	0	3	1	2	1	1	0	6	4	1	0	5	6			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:80117947G>A	ENST00000398291.3	-	3	300	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	69					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTACTGCTTTGAACTCCATGC	0.338																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(205-207)ttC>ttT		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							147	126	133					7																	80117947		1878	4108	5986	SO:0001819	synonymous_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80117947G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.207C>T	7.37:g.80117947G>A						CD36_uc003uhc.3_Intron	p.F69F	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			2	207	-			69					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.207C>T	CCDS47625.1																																																																																				0.338	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		A	80117947	G	A	80117947	2	1	186	1	0	0	0	0	0	0	0	1	6513	1281	45	3		3	GNAT3	7	80117947	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	56608352	80117947	79020716	31	13140											
TRRAP	8295	broad.mit.edu	37	chr7	98554147	98554147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggacggccaccggagcCatcagtgcagtaagatcatg	11	8	12	10	2	2	1	2	0	0	1	2	3	2	3	3	3	2	2	3	3	2	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98554147C>T	ENST00000359863.4	+	42	6410	c.6201C>T	c.(6199-6201)gcC>gcT	p.A2067A	TRRAP_ENST00000355540.3_Silent_p.A2049A|TRRAP_ENST00000446306.3_Silent_p.A2048A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2067	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACCGGAGCCATCAGTGCAG	0.512																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6199-6201)gcC>gcT		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							101	93	95					7																	98554147		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98554147C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6201C>T	7.37:g.98554147C>T						TRRAP_uc011kis.2_Silent_p.A2049A|TRRAP_uc003upr.3_Silent_p.A1766A	p.A2067A	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		41	6410	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2067			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.6201C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318172	0.23994	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.69	-2.91	0.05631	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	.	4.5407	0.12056	0.3795:0.4104:0.0754:0.1347	.	.	.	.	L	1789	.	.	P	+	2	0	TRRAP	98392083	0.958000	0.32768	0.960000	0.40013	0.942000	0.58702	0.004000	0.13106	-0.389000	0.07786	-0.940000	0.02684	CCA		0.512	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98554147	C	T	98554147	2	4	186	1	0	0	0	0	0	0	0	1	16598	581	21	3		3	TRRAP	7	98554147	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	18436200	98554147	60584516	32	13141											
TRRAP	8295	broad.mit.edu	37	chr7	98567836	98567836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacctggccgatagccaCgaccgtgccgccttcgccat	8	7	9	17	5	1	0	1	0	0	0	2	2	1	0	7	1	3	0	7	1	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98567836C>T	ENST00000359863.4	+	51	7802	c.7593C>T	c.(7591-7593)caC>caT	p.H2531H	TRRAP_ENST00000355540.3_Silent_p.H2513H|TRRAP_ENST00000446306.3_Silent_p.H2513H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2531					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGATAGCCACGACCGTGCCG	0.632																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7591-7593)caC>caT		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							105	95	99					7																	98567836		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98567836C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7593C>T	7.37:g.98567836C>T						TRRAP_uc011kis.2_Silent_p.H2513H|TRRAP_uc003upr.3_Silent_p.H2230H	p.H2531H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7802	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2531					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7593C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	1.785	-0.480942	0.04383	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.85	-10.1	0.00402	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77731	-0.2478	4	.	.	.	.	20.2145	0.98293	0.0:0.4002:0.0:0.5998	.	.	.	.	M	2253	.	.	T	+	2	0	TRRAP	98405772	0.000000	0.05858	0.043000	0.18650	0.404000	0.30871	-2.377000	0.01069	-2.901000	0.00312	-2.929000	0.00088	ACG		0.632	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98567836	C	T	98567836	2	4	186	1	0	0	0	0	0	0	0	1	16598	535	19	1		1	TRRAP	7	98567836	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	13689	98567836	60570827	33	13142											
CLCN1	1180	broad.mit.edu	37	chr7	143043325	143043325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacaaacagcagccGgaagcaccagagcctgcagg	12	2	12	15	1	0	1	0	0	0	1	0	2	0	2	5	3	6	3	5	3	2	0			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143043325G>A	ENST00000343257.2	+	18	2352	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	755					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AACAGCAGCCGGAAGCACCAG	0.602																																						uc003wcr.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2263-2265)ccG>ccA		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							53	52	52					7																	143043325		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043325G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2265G>A	7.37:g.143043325G>A						CLCN1_uc011ktc.1_Silent_p.P367P	p.P755P	NM_000083	NP_000074	P35523	CLCN1_HUMAN			17	2352	+	Melanoma(164;0.205)		755					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2265G>A	CCDS5881.1																																																																																				0.602	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		A	143043325	G	A	143043325	2	1	186	1	0	0	0	0	0	0	0	1	3462	1103	39	2		2	CLCN1	7	143043325	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	44475489	143043325	16095338	34	13143											
OR6B1	135946	broad.mit.edu	37	chr7	143701705	143701705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatcctggcactggtcAtcttcctattcccactcttt	6	17	4	14	0	3	0	1	0	2	0	6	0	6	0	3	2	0	1	3	2	2	6			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143701705A>G	ENST00000408922.2	+	1	684	c.616A>G	c.(616-618)Atc>Gtc	p.I206V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGCACTGGTCATCTTCCTATT	0.458																																						uc003wdt.1																			0		p.I206I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(616-618)Atc>Gtc		Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.							206	197	200					7																	143701705		2019	4190	6209	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701705A>G		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.616A>G	7.37:g.143701705A>G	ENSP00000386151:p.Ile206Val						p.I206V	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			0	616	+	Melanoma(164;0.0783)		206					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.616A>G	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.012047	0.00422	.	.	ENSG00000221813	ENST00000408922	T	0.00044	8.83	5.17	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.198595	0.23951	N	0.042948	T	0.00073	0.0002	N	0.05050	-0.12	0.21861	N	0.999502	B	0.02656	0.0	B	0.04013	0.001	T	0.01702	-1.1292	10	0.14252	T	0.57	.	8.6768	0.34185	0.8581:0.0:0.1419:0.0	.	206	O95007	OR6B1_HUMAN	V	206	ENSP00000386151:I206V	ENSP00000386151:I206V	I	+	1	0	OR6B1	143332638	0.000000	0.05858	0.994000	0.49952	0.032000	0.12392	0.072000	0.14617	0.423000	0.26033	-1.150000	0.01838	ATC		0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			G	143701705	A	G	143701705	3	3	186	1	0	0	0	0	1	0	0	0	11187	217	8	4	618	4	OR6B1	7	143701705	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	658380	143701705	15436958	35	13144											
HR	55806	broad.mit.edu	37	chr8	21983183	21983183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccagttttgcagggaGagccaggcatggtatgtcct	8	11	14	8	0	0	2	0	1	0	1	1	3	1	2	3	3	3	4	3	3	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:21983183G>T	ENST00000381418.4	-	4	2948	c.1468C>A	c.(1468-1470)Ctc>Atc	p.L490I	HR_ENST00000312841.8_Missense_Mutation_p.L490I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	490					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTTGCAGGGAGAGCCAGGCAT	0.602																																						uc003xas.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1468-1470)Ctc>Atc		Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.							67	58	61					8																	21983183		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21983183G>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1468C>A	8.37:g.21983183G>T	ENSP00000370826:p.Leu490Ile					HR_uc003xat.3_Missense_Mutation_p.L490I	p.L490I	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2133	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	490					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1468C>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	6.098	0.386384	0.11524	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71817	-0.6;-0.6	5.3	2.46	0.29980	.	0.366842	0.23494	N	0.047561	T	0.42337	0.1198	N	0.19112	0.55	0.09310	N	1	B;P	0.36048	0.096;0.534	B;B	0.32211	0.026;0.142	T	0.44050	-0.9353	10	0.02654	T	1	-0.1612	4.2115	0.10514	0.0863:0.1575:0.593:0.1632	.	490;490	O43593-2;O43593	.;HAIR_HUMAN	I	490	ENSP00000370826:L490I;ENSP00000326765:L490I	ENSP00000326765:L490I	L	-	1	0	HR	22039128	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.753000	0.26376	0.295000	0.22570	-0.339000	0.08088	CTC		0.602	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			T	21983183	G	T	21983183	3	4	186	1	0	0	0	0	1	0	0	0	7347	942	33	5	2165	5	HR	8	21983183	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		21983183	124380839	36	13145											
CYP11B2	1585	broad.mit.edu	37	chr8	143994857	143994857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagagcgtcatcagcaagGgaaacgctgtctacagaagc	15	5	11	10	2	3	2	2	0	1	2	3	3	3	3	0	1	5	2	0	1	5	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:143994857G>A	ENST00000323110.2	-	6	967	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	322					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CATCAGCAAGGGAAACGCTGT	0.632									Familial Hyperaldosteronism type I																													uc003yxk.1																			0		p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(964-966)cCc>cTc		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	Candesartan(DB00796)|Metyrapone(DB01011)						73	68	70					8																	143994857		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994857G>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.965C>T	8.37:g.143994857G>A	ENSP00000325822:p.Pro322Leu						p.P322L	NM_000498	NP_000489	P19099	C11B2_HUMAN			5	968	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		322					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.965C>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.89	2.670306	0.47677	.	.	ENSG00000179142	ENST00000323110	T	0.68624	-0.34	3.88	2.96	0.34315	.	0.571285	0.15782	N	0.244900	T	0.60495	0.2273	L	0.39514	1.22	0.51233	D	0.999913	B	0.32382	0.368	B	0.38327	0.271	T	0.60047	-0.7339	10	0.59425	D	0.04	.	10.8429	0.46726	0.0:0.1938:0.8062:0.0	.	322	P19099	C11B2_HUMAN	L	322	ENSP00000325822:P322L	ENSP00000325822:P322L	P	-	2	0	CYP11B2	143991859	0.992000	0.36948	0.559000	0.28332	0.197000	0.23852	7.454000	0.80714	0.783000	0.33636	0.558000	0.71614	CCC		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			A	143994857	G	A	143994857	3	1	186	1	0	0	0	0	1	0	0	0	4146	1232	43	3	562	3	CYP11B2	8	143994857	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	122011674	143994857	2369165	37	13146											
IFNB1	3456	broad.mit.edu	37	chr9	21077465	21077465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagactgctcatgagttttCccctggtgaaatcttctttc	7	15	8	11	0	3	3	1	2	2	1	5	3	4	3	2	1	1	3	2	1	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:21077465C>A	ENST00000380232.2	-	1	478	c.404G>T	c.(403-405)gGa>gTa	p.G135V		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	135					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		CATGAGTTTTCCCCTGGTGAA	0.443																																						uc003zok.3																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(403-405)gGa>gTa		Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						188	194	192					9																	21077465		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077465C>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"Interferons"	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.404G>T	9.37:g.21077465C>A	ENSP00000369581:p.Gly135Val						p.G135V	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	0	479	-			135					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.404G>T	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	C	8.483	0.860215	0.17178	.	.	ENSG00000171855	ENST00000380232	T	0.18810	2.19	5.19	-5.4	0.02656	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.550580	0.01329	N	0.011198	T	0.15782	0.0380	M	0.67397	2.05	0.09310	N	1	P	0.44877	0.845	B	0.34991	0.193	T	0.37663	-0.9696	10	0.29301	T	0.29	1.1575	1.2456	0.01972	0.2299:0.2187:0.1134:0.438	.	135	P01574	IFNB_HUMAN	V	135	ENSP00000369581:G135V	ENSP00000369581:G135V	G	-	2	0	IFNB1	21067465	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.771000	0.00779	-1.015000	0.03375	0.650000	0.86243	GGA		0.443	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		A	21077465	C	A	21077465	3	1	186	1	0	0	0	0	1	0	0	0	7546	855	30	5	163	5	IFNB1	9	21077465	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21077465	120135966	38	13147											
OR1J4	26219	broad.mit.edu	37	chr9	125281885	125281885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctctcctgtaccaatGccctgtctcacactctcctc	6	12	5	18	0	3	0	1	0	3	0	8	1	4	1	5	1	2	1	5	1	2	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:125281885G>A	ENST00000340750.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGTACCAATGCCCTGTCTCA	0.517																																						uc011lyw.2																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(466-468)Gcc>Acc		Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.							212	165	181					9																	125281885		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281885G>A	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"GPCR / Class A : Olfactory receptors"	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.466G>A	9.37:g.125281885G>A	ENSP00000343521:p.Ala156Thr						p.A156T	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			0	466	+			156					A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.466G>A	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672994	0.29693	.	.	ENSG00000239590	ENST00000340750	T	0.39056	1.1	5.22	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.245446	0.20433	U	0.092421	T	0.40815	0.1132	L	0.45744	1.44	0.21473	N	0.999677	P	0.38440	0.631	P	0.44811	0.461	T	0.31392	-0.9945	10	0.66056	D	0.02	.	8.2074	0.31463	0.0:0.1371:0.4802:0.3827	.	156	Q8NGS1	OR1J4_HUMAN	T	156	ENSP00000343521:A156T	ENSP00000343521:A156T	A	+	1	0	OR1J4	124321706	0.000000	0.05858	0.597000	0.28824	0.013000	0.08279	0.515000	0.22801	1.582000	0.49881	-0.175000	0.13238	GCC		0.517	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			A	125281885	G	A	125281885	3	1	186	1	0	0	0	0	1	0	0	0	10961	1319	46	3	468	3	OR1J4	9	125281885	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	104204420	125281885	15931546	39	13148											
GTF3C4	9329	broad.mit.edu	37	chr9	135546145	135546145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctcatggtgactcggCgggagccggccgtgaagctg	5	7	16	13	5	1	2	1	2	0	0	3	3	2	3	4	4	2	1	4	4	1	0			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:135546145C>T	ENST00000372146.4	+	1	724	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	GTF3C4_ENST00000483873.2_Missense_Mutation_p.R54W|DDX31_ENST00000372153.1_5'Flank|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000480876.1_5'Flank|DDX31_ENST00000310532.2_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	54					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGTGACTCGGCGGGAGCCGGC	0.736																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(160-162)Cgg>Tgg		Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.							8	10	9					9																	135546145		2154	4247	6401	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546145C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.160C>T	9.37:g.135546145C>T	ENSP00000361219:p.Arg54Trp					DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	p.R54W	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	0	418	+			54					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.160C>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630496	0.87660	.	.	ENSG00000125484	ENST00000372146	T	0.60672	0.17	3.67	3.67	0.42095	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.54791	0.1880	N	0.08118	0	0.45295	D	0.998299	D	0.89917	1.0	D	0.83275	0.996	T	0.62835	-0.6770	10	0.87932	D	0	-17.6321	10.854	0.46786	0.2029:0.7971:0.0:0.0	.	54	Q9UKN8	TF3C4_HUMAN	W	54	ENSP00000361219:R54W	ENSP00000361219:R54W	R	+	1	2	GTF3C4	134535966	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.030000	0.30153	2.043000	0.60533	0.455000	0.32223	CGG		0.736	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			T	135546145	C	T	135546145	3	4	186	1	0	0	0	0	1	0	0	0	6875	759	27	1	162	1	GTF3C4	9	135546145	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	10264260	135546145	5667286	40	13149											
C9orf116	138162	broad.mit.edu	37	chr9	138387358	138387358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcagttatcggggccaGtcacgatgcttttctccagg	7	12	12	10	2	2	1	1	1	1	0	4	2	2	1	2	3	2	3	2	3	1	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:138387358G>A	ENST00000429260.2	-	3	346	c.326C>T	c.(325-327)aCt>aTt	p.T109I	C9orf116_ENST00000371791.1_3'UTR|C9orf116_ENST00000371789.3_3'UTR	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	109															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		ATCGGGGCCAGTCACGATGCT	0.478																																						uc004cft.1																			0											c.(325-327)aCt>aTt		Homo sapiens chromosome 9 open reading frame 116 (C9orf116), transcript variant 1, mRNA.							200	165	177					9																	138387358		2203	4300	6503	SO:0001583	missense	138162							g.chr9:138387358G>A	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.326C>T	9.37:g.138387358G>A	ENSP00000395281:p.Thr109Ile					C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_Non-coding_Transcript	p.T109I	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	2	390	-			109					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.326C>T	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965278	0.53507	.	.	ENSG00000160345	ENST00000429260	.	.	.	5.03	5.03	0.67393	.	0.104262	0.39985	N	0.001212	T	0.76456	0.3990	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.78979	-0.1990	9	0.72032	D	0.01	-19.003	15.5759	0.76387	0.0:0.0:1.0:0.0	.	109	Q5BN46	CI116_HUMAN	I	109	.	ENSP00000395281:T109I	T	-	2	0	C9orf116	137527179	1.000000	0.71417	0.883000	0.34634	0.211000	0.24417	4.797000	0.62503	2.339000	0.79563	0.650000	0.86243	ACT		0.478	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		A	138387358	G	A	138387358	3	1	186	1	0	0	0	0	1	0	0	0	2450	1029	36	3	88	3	C9orf116	9	138387358	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	2841213	138387358	2826073	41	13150											
FAM107B	83641	broad.mit.edu	37	chr10	14564008	14564008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caattctggtttgttctgagGagcaagacccctgcgaaaga	11	10	11	9	1	2	3	0	1	2	2	2	5	2	4	2	2	2	3	2	2	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:14564008G>C	ENST00000378470.1	-	3	425	c.139C>G	c.(139-141)Cct>Gct	p.P47A	FAM107B_ENST00000496330.1_Missense_Mutation_p.P47A|FAM107B_ENST00000479731.1_Missense_Mutation_p.P47A|FAM107B_ENST00000478076.1_Missense_Mutation_p.P47A|FAM107B_ENST00000378465.3_Missense_Mutation_p.P47A|FAM107B_ENST00000378458.2_Missense_Mutation_p.P47A|FAM107B_ENST00000378462.1_Missense_Mutation_p.P47A|FAM107B_ENST00000181796.2_Missense_Mutation_p.P222A|FAM107B_ENST00000468747.1_Missense_Mutation_p.P47A|FAM107B_ENST00000378467.4_Missense_Mutation_p.P47A	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	47					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGTTCTGAGGAGCAAGACCC	0.358																																						uc001ina.1																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(664-666)Cct>Gct		Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.							121	113	115					10																	14564008		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14564008G>C	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.139C>G	10.37:g.14564008G>C	ENSP00000367731:p.Pro47Ala					FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Missense_Mutation_p.P47A|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A|FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A	p.P222A	NM_031453	NP_113641	Q9H098	F107B_HUMAN			3	898	-			47					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.664C>G		.	.	.	.	.	.	.	.	.	.	G	18.66	3.672159	0.67928	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.849	T	0.53711	-0.8400	10	0.31617	T	0.26	-8.3	19.4161	0.94700	0.0:0.0:1.0:0.0	.	222;47	Q9H098-2;Q9H098	.;F107B_HUMAN	A	47;222;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47	ENSP00000367731:P47A;ENSP00000181796:P222A;ENSP00000418120:P47A;ENSP00000367728:P47A;ENSP00000367726:P47A;ENSP00000367719:P47A;ENSP00000417782:P47A;ENSP00000367723:P47A;ENSP00000418330:P47A;ENSP00000419603:P47A;ENSP00000420444:P47A;ENSP00000413676:P47A;ENSP00000420249:P47A;ENSP00000418395:P47A;ENSP00000417242:P47A;ENSP00000420314:P47A;ENSP00000397949:P47A;ENSP00000417845:P47A;ENSP00000419064:P47A	ENSP00000181796:P222A	P	-	1	0	FAM107B	14604014	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CCT		0.358	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		C	14564008	G	C	14564008	3	2	186	1	0	0	0	0	1	0	0	0	5390	1174	41	5	264	5	FAM107B	10	14564008	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		14564008	120970739	42	13151											
PARD3	56288	broad.mit.edu	37	chr10	34663908	34663908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacttcctcttgggatttgCccactaaatctactccattt	9	15	4	13	0	2	0	0	0	2	0	4	1	4	1	3	1	3	0	3	1	4	6			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:34663908C>T	ENST00000374789.3	-	11	1887	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000340077.5_Missense_Mutation_p.G521D|PARD3_ENST00000374794.3_Missense_Mutation_p.G477D|PARD3_ENST00000374790.3_Missense_Mutation_p.G477D|PARD3_ENST00000544292.1_Missense_Mutation_p.G251D|PARD3_ENST00000350537.4_Missense_Mutation_p.G521D|PARD3_ENST00000545693.1_Missense_Mutation_p.G521D|PARD3_ENST00000374776.1_Missense_Mutation_p.G521D|PARD3_ENST00000374788.3_Missense_Mutation_p.G521D|PARD3_ENST00000374773.1_Missense_Mutation_p.G521D|PARD3_ENST00000545260.1_Missense_Mutation_p.G477D|PARD3_ENST00000346874.4_Missense_Mutation_p.G521D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	521	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGGGATTTGCCCACTAAATC	0.453																																						uc010qej.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1561-1563)gGc>gAc		Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.							97	96	96					10																	34663908		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34663908C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1562G>A	10.37:g.34663908C>T	ENSP00000363921:p.Gly521Asp					PARD3_uc010qep.2_Missense_Mutation_p.G477D|PARD3_uc010qeq.2_Missense_Mutation_p.G477D|PARD3_uc010qek.2_Missense_Mutation_p.G521D|PARD3_uc010qel.2_Missense_Mutation_p.G521D|PARD3_uc010qem.2_Missense_Mutation_p.G521D|PARD3_uc010qen.2_Missense_Mutation_p.G521D|PARD3_uc010qeo.2_Missense_Mutation_p.G521D|PARD3_uc001ixo.2_Missense_Mutation_p.G251D|PARD3_uc001ixr.2_Missense_Mutation_p.G521D|PARD3_uc001ixq.2_Missense_Mutation_p.G521D|PARD3_uc001ixp.2_Missense_Mutation_p.G521D|PARD3_uc001ixt.1_Missense_Mutation_p.G342D|PARD3_uc001ixu.2_Missense_Mutation_p.G477D|PARD3_uc001ixs.1_Missense_Mutation_p.G174D	p.G521D	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			10	1892	-		Breast(68;0.0707)	521			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1562G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	c	31	5.059486	0.93846	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.82	5.82	0.92795	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;P;P;D;D;B;P;D;B	0.89917	1.0;0.999;0.998;1.0;0.998;0.994;1.0;0.664;0.664;1.0;0.999;0.314;0.911;0.992;0.1	D;P;D;D;D;D;D;B;P;D;D;B;P;D;B	0.97110	1.0;0.895;0.983;0.99;0.983;0.954;0.99;0.398;0.497;0.994;0.987;0.24;0.874;0.944;0.137	T	0.34625	-0.9821	10	0.66056	D	0.02	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	477;477;521;521;521;521;521;521;477;521;521;521;521;521;251	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	D	521;477;521;521;521;477;521;477;521;521;521;251	ENSP00000443147:G521D;ENSP00000440857:G477D;ENSP00000363921:G521D;ENSP00000363920:G521D;ENSP00000340591:G521D;ENSP00000363926:G477D;ENSP00000311986:G521D;ENSP00000363922:G477D;ENSP00000363908:G521D;ENSP00000341844:G521D;ENSP00000363905:G521D;ENSP00000444429:G251D	ENSP00000341844:G521D	G	-	2	0	PARD3	34703914	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.451000	0.80668	2.739000	0.93911	0.655000	0.94253	GGC		0.453	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		T	34663908	C	T	34663908	3	4	186	1	0	0	0	0	1	0	0	0	11443	739	26	3	2603	3	PARD3	10	34663908	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	20099900	34663908	100870839	43	13152											
PTEN	5728	broad.mit.edu	37	chr10	89720676	89720676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtttcacttttgggtaaAtacattcttcataccaggac	12	15	6	8	0	3	0	2	0	1	0	3	1	3	1	1	2	2	2	1	2	5	8			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:89720676A>G	ENST00000371953.3	+	8	2184	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	276	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.N276fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTGGGTAAATACATTCTTC	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.V275fs*1(5)|p.R55fs*1(5)|p.N276fs*15(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.N276K(1)|p.V275L(1)|p.V275A(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM090487	PTEN	M		c.(826-828)aAt>aGt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							29	31	30					10																	89720676		2192	4281	6473	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720676A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.827A>G	10.37:g.89720676A>G	ENSP00000361021:p.Asn276Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.N276S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1859	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	276			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.827A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534394	0.85812	.	.	ENSG00000171862	ENST00000371953	D	0.91740	-2.9	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96516	0.9382	9	.	.	.	-7.7972	14.9228	0.70854	1.0:0.0:0.0:0.0	.	276	P60484	PTEN_HUMAN	S	276	ENSP00000361021:N276S	.	N	+	2	0	PTEN	89710656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	1.942000	0.56320	0.482000	0.46254	AAT		0.279	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89720676	A	G	89720676	3	3	186	1	0	0	0	0	1	0	0	0	12738	101	4	4	857	4	PTEN	10	89720676	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	55056768	89720676	45814071	44	13153											
DNMBP	23268	broad.mit.edu	37	chr10	101715528	101715528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaattttatctggctctGtgccgggccctgccaagctc	7	12	10	12	1	2	0	0	0	2	0	3	0	2	0	3	2	3	3	3	2	4	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:101715528G>C	ENST00000324109.4	-	4	1794	c.1703C>G	c.(1702-1704)aCa>aGa	p.T568R	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.T568R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	568					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCTGGCTCTGTGCCGGGCCC	0.498																																						uc001kqj.2																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1702-1704)aCa>aGa		Homo sapiens dynamin binding protein (DNMBP), mRNA.							62	65	64					10																	101715528		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715528G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1703C>G	10.37:g.101715528G>C	ENSP00000315659:p.Thr568Arg					DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	p.T568R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	3	1795	-		Colorectal(252;0.234)	568					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1703C>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555297	0.27739	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.13089	2.66;2.62	6.04	5.14	0.70334	.	0.547135	0.16637	N	0.205806	T	0.15652	0.0377	L	0.47716	1.5	0.22675	N	0.998864	B	0.13594	0.008	B	0.06405	0.002	T	0.09907	-1.0653	10	0.42905	T	0.14	-0.4684	15.3659	0.74523	0.0665:0.0:0.9335:0.0	.	568	Q6XZF7	DNMBP_HUMAN	R	568	ENSP00000344914:T568R;ENSP00000315659:T568R	ENSP00000315659:T568R	T	-	2	0	DNMBP	101705518	0.926000	0.31397	0.236000	0.24074	0.605000	0.37080	2.763000	0.47605	1.573000	0.49748	-0.258000	0.10820	ACA		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		C	101715528	G	C	101715528	3	2	186	1	0	0	0	0	1	0	0	0	4674	1377	48	5	3086	5	DNMBP	10	101715528	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	11994852	101715528	33819219	45	13154											
NELL1	4745	broad.mit.edu	37	chr11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgtcccaggatacattCgtgtggatgacttctcttgt	7	15	10	9	1	1	1	0	1	1	0	4	3	2	3	1	2	1	0	1	2	1	4	rs371025282		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:21135236C>T	ENST00000357134.5	+	13	1554	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	NELL1_ENST00000325319.5_Missense_Mutation_p.R411C|NELL1_ENST00000532434.1_Missense_Mutation_p.R468C|NELL1_ENST00000298925.5_Missense_Mutation_p.R496C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	468	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403																																						uc009yid.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1486-1488)Cgt>Tgt		Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	339	284	303		1402,1402	5.3	1	11		303	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	468/811,468/764	21135236	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21135236C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1402C>T	11.37:g.21135236C>T	ENSP00000349654:p.Arg468Cys					NELL1_uc010rdp.2_Missense_Mutation_p.R228C|NELL1_uc001mqe.3_Missense_Mutation_p.R468C|NELL1_uc001mqf.3_Missense_Mutation_p.R468C|NELL1_uc010rdo.2_Missense_Mutation_p.R411C	p.R496C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			13	1639	+			468			EGF-like 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1486C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595215	0.66219	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.95310	0.8478	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.562;0.999	D;D;B;D	0.87578	0.996;0.998;0.148;0.99	D	0.95552	0.8621	10	0.66056	D	0.02	-22.1431	17.1145	0.86685	0.0:1.0:0.0:0.0	.	411;496;468;468	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	C	496;468;411;468	ENSP00000298925:R496C;ENSP00000349654:R468C;ENSP00000317837:R411C;ENSP00000437170:R468C	ENSP00000298925:R496C	R	+	1	0	NELL1	21091812	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.520000	0.60524	2.470000	0.83445	0.591000	0.81541	CGT		0.403	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21135236	C	T	21135236	3	4	186	1	0	0	0	0	1	0	0	0	10333	884	31	2	1452	2	NELL1	11	21135236	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21135236	113871280	46	13155											
OR5M8	219484	broad.mit.edu	37	chr11	56258155	56258155	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagctttttgcctgcccTctgtagagcgaatctttaaa	12	13	7	9	1	2	1	0	0	2	1	2	2	2	1	2	0	4	2	2	0	6	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:56258155T>A	ENST00000327216.2	-	1	716	c.692A>T	c.(691-693)gAg>gTg	p.E231V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGCCTGCCCTCTGTAGAGCG	0.413																																						uc001nix.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(691-693)gAg>gTg		Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.							38	41	40					11																	56258155		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258155T>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.692A>T	11.37:g.56258155T>A	ENSP00000323354:p.Glu231Val					OR8U8_uc001nit.2_Intron	p.E231V	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			0	692	-	Esophageal squamous(21;0.00352)		231					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.692A>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	9.245	1.039259	0.19669	.	.	ENSG00000181371	ENST00000327216	T	0.00220	8.52	4.35	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.173042	0.27411	N	0.019494	T	0.00328	0.0010	M	0.73598	2.24	0.09310	N	1	P	0.45474	0.859	P	0.52823	0.71	T	0.37314	-0.9711	10	0.72032	D	0.01	-12.0754	5.2142	0.15334	0.1795:0.0:0.1864:0.6341	.	231	Q8NGP6	OR5M8_HUMAN	V	231	ENSP00000323354:E231V	ENSP00000323354:E231V	E	-	2	0	OR5M8	56014731	0.000000	0.05858	0.031000	0.17742	0.011000	0.07611	0.058000	0.14301	0.614000	0.30107	0.514000	0.50259	GAG		0.413	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		A	56258155	T	A	56258155	3	1	186	1	0	0	0	0	1	0	0	0	11176	1551	54	5	247	5	OR5M8	11	56258155	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	35122919	56258155	78748361	47	13156											
MS4A4A	51338	broad.mit.edu	37	chr11	60075609	60075609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgccatcacattctcaCatggcagaaacagcatctcc	12	10	5	14	0	4	1	2	0	3	1	6	1	4	1	2	1	3	2	2	1	1	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:60075609C>T	ENST00000337908.4	+	7	768	c.678C>T	c.(676-678)caC>caT	p.H226H	MS4A4A_ENST00000395016.3_Silent_p.H207H|MS4A4A_ENST00000532114.1_Silent_p.H173H|MS4A4A_ENST00000355131.3_Silent_p.H207H	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	226						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CACATTCTCACATGGCAGAAA	0.458																																						uc001noz.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(676-678)caC>caT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.							219	187	198					11																	60075609		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60075609C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"membrane-spanning 4-domains, subfamily A, member 4"	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.678C>T	11.37:g.60075609C>T						MS4A4A_uc001npa.3_Silent_p.H207H|MS4A4A_uc001npc.3_Silent_p.H173H	p.H226H	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN			6	813	+			226					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.678C>T	CCDS7982.1																																																																																				0.458	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			T	60075609	C	T	60075609	2	4	186	1	0	0	0	0	0	0	0	1	9862	477	17	3		3	MS4A4A	11	60075609	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	3817454	60075609	74930907	48	13157											
CCDC87	55231	broad.mit.edu	37	chr11	66359836	66359836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagagcactgcacttgggcGaagccagtgctgtgaggcca	9	8	14	10	1	0	2	0	1	0	1	0	3	0	2	2	2	4	3	2	2	2	2	rs17853294		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:66359836G>A	ENST00000333861.3	-	1	718	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	217			F -> L (in dbSNP:rs17853294). {ECO:0000269|PubMed:15489334}.		cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592																																						uc001oiq.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(649-651)ttC>ttT		Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.							70	55	60					11																	66359836		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359836G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.651C>T	11.37:g.66359836G>A						CCS_uc001oir.3_5'Flank	p.F217F	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			0	719	-			217		F -> L (in dbSNP:rs17853294).			Q8NE76	Silent	SNP	ENST00000333861.3	37	c.651C>T	CCDS8145.1																																																																																				0.592	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		A	66359836	G	A	66359836	2	1	186	1	0	0	0	0	0	0	0	1	2862	1049	37	2		2	CCDC87	11	66359836	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	6284227	66359836	68646680	49	13158											
CNTN5	53942	broad.mit.edu	37	chr11	99827702	99827703	+	Frame_Shift_Ins	INS	-	-	TCCTTAGTCC																															cacagtgacgaatgctagagINStccttagtcctccaacgcca																										TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:99827702_99827703insTCCTTAGTCC	ENST00000524871.1	+	8	1128_1129	c.838_839insTCCTTAGTCC	c.(838-840)gtcfs	p.-283fs	CNTN5_ENST00000527185.1_Frame_Shift_Ins_p.-283fs|CNTN5_ENST00000528682.1_Frame_Shift_Ins_p.-283fs|CNTN5_ENST00000279463.3_Frame_Shift_Ins_p.-283fs|CNTN5_ENST00000418526.2_Frame_Shift_Ins_p.-209fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAATGCTAGAGTCCTTAGTCCT	0.416																																						uc001pga.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(838-840)gtcfs		Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827702_99827703insTCCTTAGTCC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.839_848dupTCCTTAGTCC	11.37:g.99827703_99827712dupTCCTTAGTCC	ENSP00000435637:p.Pro283fs					CNTN5_uc009ywv.2_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pfz.3_Frame_Shift_Ins_p.V280fs|CNTN5_uc021qpb.1_Frame_Shift_Ins_p.V280fs|CNTN5_uc021qpc.1_Frame_Shift_Ins_p.V206fs	p.V280fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	7	1342_1343	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	280			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Frame_Shift_Ins	INS	ENST00000524871.1	37	c.838_839insTCCTTAGTCC	CCDS53696.1																																																																																				0.416	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		TCCTTAGTCC	99827703	-	TCCTTAGTCC	99827702	7	5	186	1	0	1	1	0	0	0	0	0	3644	1029	36	0	860	0	CNTN5	11	99827702	Frame_Shift_Ins	INS	-	TCGA-27-1834-01A-01W-0643-08	33467866	99827702	35178814	50	13159											
OPCML	4978	broad.mit.edu	37	chr11	132527102	132527102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctgtactgggttggtgTattgaccaggatgatcacac	9	12	13	7	0	1	2	1	2	0	0	1	4	1	3	1	3	2	4	1	3	2	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:132527102T>A	ENST00000331898.7	-	2	858	c.280A>T	c.(280-282)Aca>Tca	p.T94S	OPCML_ENST00000374778.4_Missense_Mutation_p.T53S|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.T94S|OPCML_ENST00000524381.1_Missense_Mutation_p.T87S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	94	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGGGTTGGTGTATTGACCAGG	0.532																																						uc010sck.2																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(280-282)Aca>Tca		Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.							247	183	205					11																	132527102		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527102T>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.280A>T	11.37:g.132527102T>A	ENSP00000330862:p.Thr94Ser					OPCML_uc001qgu.3_Missense_Mutation_p.T87S|OPCML_uc001qgs.3_Missense_Mutation_p.T94S|OPCML_uc001qgt.3_Missense_Mutation_p.T94S|OPCML_uc010scl.2_Missense_Mutation_p.T53S	p.T94S	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	330	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	94			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.280A>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547092	0.45383	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33813	N	0.004526	T	0.14960	0.0361	N	0.05158	-0.105	0.46749	D	0.999181	B;P;B;B	0.37207	0.048;0.587;0.056;0.024	B;B;B;B	0.37091	0.241;0.241;0.206;0.145	T	0.17289	-1.0374	10	0.25751	T	0.34	-11.0398	16.1846	0.81942	0.0:0.0:0.0:1.0	.	94;87;94;94	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	94;87;53;94	ENSP00000330862:T94S;ENSP00000434750:T87S;ENSP00000363910:T53S;ENSP00000445496:T94S	ENSP00000330862:T94S	T	-	1	0	OPCML	132032312	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.859000	0.62954	2.229000	0.72834	0.533000	0.62120	ACA		0.532	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		A	132527102	T	A	132527102	3	1	186	1	0	0	0	0	1	0	0	0	10874	1638	57	5	781	5	OPCML	11	132527102	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	32699400	132527102	2479414	51	13160											
MVK	4598	broad.mit.edu	37	chr12	110023885	110023885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaaggggagagaatgAttcacgggaacccctccgga	11	6	12	12	2	1	2	1	1	0	1	3	6	3	5	5	4	1	0	5	4	3	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:110023885A>G	ENST00000228510.3	+	6	662	c.586A>G	c.(586-588)Att>Gtt	p.I196V	MVK_ENST00000539575.1_Missense_Mutation_p.I144V|MVK_ENST00000541384.1_Missense_Mutation_p.I2V|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.I144V|MVK_ENST00000535044.1_3'UTR	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	196					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGAGAGAATGATTCACGGGAA	0.453																																						uc001toy.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(586-588)Att>Gtt		Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.							86	81	83					12																	110023885		2203	4300	6503	SO:0001583	missense	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110023885A>G	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.586A>G	12.37:g.110023885A>G	ENSP00000228510:p.Ile196Val					MVK_uc009zvk.3_Missense_Mutation_p.I196V|MVK_uc010sxr.2_Missense_Mutation_p.I144V|MVK_uc001toz.4_Missense_Mutation_p.I2V|MVK_uc021rdo.1_Missense_Mutation_p.I196V|MVK_uc001tpc.4_Non-coding_Transcript	p.I196V	NM_001114185	NP_001107657	Q03426	KIME_HUMAN			5	770	+			196						Missense_Mutation	SNP	ENST00000228510.3	37	c.586A>G	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968839	0.74131	.	.	ENSG00000110921	ENST00000546277;ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D;D	0.97688	-2.14;-2.14;-2.14;-2.14;-4.49	5.12	5.12	0.69794	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.39633	1.23	0.58432	D	0.999999	B;P	0.51933	0.328;0.949	B;P	0.56398	0.111;0.797	D	0.94643	0.7832	10	0.13470	T	0.59	-12.5897	11.3032	0.49318	1.0:0.0:0.0:0.0	.	144;196	F5H8H2;Q03426	.;KIME_HUMAN	V	196;196;144;144;2	ENSP00000438153:I196V;ENSP00000228510:I196V;ENSP00000376487:I144V;ENSP00000443551:I144V;ENSP00000443182:I2V	ENSP00000228510:I196V	I	+	1	0	MVK	108508268	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.029000	0.88807	1.921000	0.55644	0.528000	0.53228	ATT		0.453	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		G	110023885	A	G	110023885	3	3	186	1	0	0	0	0	1	0	0	0	9995	333	12	4	604	4	MVK	12	110023885	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08		110023885	23828010	52	13161											
FZD10	11211	broad.mit.edu	37	chr12	130647861	130647861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgattatggagcagttcaActtcaagtggcccgactccc	9	9	9	14	2	2	0	2	0	0	0	3	3	3	1	3	2	2	2	3	2	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:130647861A>T	ENST00000229030.4	+	1	858	c.374A>T	c.(373-375)aAc>aTc	p.N125I	FZD10_ENST00000539839.1_Missense_Mutation_p.Q92H|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	125	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGCAGTTCAACTTCAAGTGG	0.642																																						uc001uii.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(373-375)aAc>aTc		Homo sapiens frizzled family receptor 10 (FZD10), mRNA.							97	94	95					12																	130647861		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647861A>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.374A>T	12.37:g.130647861A>T	ENSP00000229030:p.Asn125Ile					FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	p.N125I	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	0	858	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		125			FZ.			Missense_Mutation	SNP	ENST00000229030.4	37	c.374A>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.21|10.21	1.287538|1.287538	0.23478|0.23478	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.80214|.	-1.35|.	4.81|4.81	3.66|3.66	0.41972|0.41972	Frizzled domain (5);|.	0.117466|.	0.53938|.	U|.	0.000044|.	T|T	0.66436|0.66436	0.2789|0.2789	M|M	0.76838|0.76838	2.35|2.35	0.44595|0.44595	D|D	0.997564|0.997564	B|.	0.26876|.	0.162|.	B|.	0.31245|.	0.126|.	T|T	0.66606|0.66606	-0.5881|-0.5881	10|6	0.87932|0.87932	D|D	0|0	.|.	6.9193|6.9193	0.24378|0.24378	0.7696:0.1504:0.08:0.0|0.7696:0.1504:0.08:0.0	.|.	125|.	Q9ULW2|.	FZD10_HUMAN|.	I|H	125|92	ENSP00000229030:N125I|.	ENSP00000229030:N125I|ENSP00000438460:Q92H	N|Q	+|+	2|3	0|2	FZD10|FZD10	129213814|129213814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.489000|3.489000	0.53237|0.53237	0.690000|0.690000	0.31570|0.31570	0.459000|0.459000	0.35465|0.35465	AAC|CAA		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	130647861	A	T	130647861	3	4	186	1	0	0	0	0	1	0	0	0	6129	43	2	5	376	5	FZD10	12	130647861	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	20623976	130647861	3204034	53	13162											
OLFM4	10562	broad.mit.edu	37	chr13	53624555	53624555	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagaatggattgtgggtTatttattcaactgaagccag	12	13	12	4	0	1	2	1	2	0	1	1	5	1	3	1	2	2	1	1	2	5	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr13:53624555T>A	ENST00000219022.2	+	5	1260	c.1182T>A	c.(1180-1182)gtT>gtA	p.V394V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	394	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GATTGTGGGTTATTTATTCAA	0.398																																						uc001vhl.3																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1180-1182)gtT>gtA		Homo sapiens olfactomedin 4 (OLFM4), mRNA.							178	173	175					13																	53624555		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624555T>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1182T>A	13.37:g.53624555T>A						OLFM4_uc001vhk.2_3'UTR	p.V394V	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	4	1278	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	394			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.1182T>A	CCDS9440.1																																																																																				0.398	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53624555	T	A	53624555	2	1	186	1	0	0	0	0	0	0	0	1	10855	1741	61	5		5	OLFM4	13	53624555	Silent	SNP	T	TCGA-27-1834-01A-01W-0643-08		53624555	61545323	54	13163											
OR10G2	26534	broad.mit.edu	37	chr14	22102705	22102705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccacacagccaccaaaCgggatagccttgatggaagg	13	5	12	11	1	0	2	0	2	0	0	0	4	0	4	4	3	4	0	4	3	3	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:22102705C>T	ENST00000542433.1	-	1	391	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCCACCAAACGGGATAGCCT	0.493																																						uc010tmc.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(292-294)ccG>ccA		Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.							54	52	53					14																	22102705		2203	4300	6503	SO:0001819	synonymous_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102705C>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.294G>A	14.37:g.22102705C>T							p.P98P	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	0	294	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	98					B2RPD0	Silent	SNP	ENST00000542433.1	37	c.294G>A	CCDS32047.1																																																																																				0.493	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			T	22102705	C	T	22102705	2	4	186	1	0	0	0	0	0	0	0	1	10899	523	19	1		1	OR10G2	14	22102705	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08		22102705	85246835	55	13164											
FOXA1	3169	broad.mit.edu	37	chr14	38060669	38060669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtcaccgaggcgctGcctagaggcaggctggcggg	5	6	19	11	3	1	1	1	0	0	1	1	2	1	1	2	7	1	3	2	7	1	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:38060669G>A	ENST00000250448.2	-	2	1381	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.G407G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	440					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGAGGCGCTGCCTAGAGGCA	0.607																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1318-1320)ggC>ggT		Homo sapiens forkhead box A1 (FOXA1), mRNA.							64	64	64					14																	38060669		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060669G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1320C>T	14.37:g.38060669G>A						FOXA1_uc010tpz.2_Silent_p.G407G	p.G440G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	1632	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		440					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1320C>T	CCDS9665.1																																																																																				0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			A	38060669	G	A	38060669	2	1	186	1	0	0	0	0	0	0	0	1	5989	1306	46	3		3	FOXA1	14	38060669	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	15957964	38060669	69288871	56	13165											
ZNF839	55778	broad.mit.edu	37	chr14	102792551	102792551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacttatgccaacctcCtgctcaggggtttgtacaga	10	11	10	10	0	1	2	1	1	0	1	2	2	2	2	3	2	4	3	3	2	4	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:102792551C>T	ENST00000558850.1	+	2	520	c.170C>T	c.(169-171)cCt>cTt	p.P57L	ZNF839_ENST00000262236.5_Missense_Mutation_p.P57L|ZNF839_ENST00000559185.1_Missense_Mutation_p.P57L|ZNF839_ENST00000442396.2_Missense_Mutation_p.P173L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	57							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCCAACCTCCTGCTCAGGGG	0.597																																						uc010awk.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(517-519)cCt>cTt		Homo sapiens zinc finger protein 839 (ZNF839), mRNA.							42	45	44					14																	102792551		1937	4145	6082	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792551C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.170C>T	14.37:g.102792551C>T	ENSP00000453363:p.Pro57Leu					ZNF839_uc001ylo.2_Missense_Mutation_p.P57L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	p.P173L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			1	525	+			57					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.518C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864702	0.51482	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.68479	-0.33;-0.33	5.06	3.15	0.36227	.	.	.	.	.	T	0.75148	0.3810	L	0.53249	1.67	0.41102	D	0.985672	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66351	0.943;0.943;0.943	T	0.76217	-0.3040	9	0.87932	D	0	.	12.2574	0.54631	0.309:0.691:0.0:0.0	.	173;57;57	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	173;57	ENSP00000399863:P173L;ENSP00000262236:P57L	ENSP00000262236:P57L	P	+	2	0	ZNF839	101862304	0.180000	0.23148	0.337000	0.25536	0.418000	0.31294	1.071000	0.30666	0.496000	0.27904	0.556000	0.70494	CCT		0.597	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102792551	C	T	102792551	3	4	186	1	0	0	0	0	1	0	0	0	18185	681	24	3	524	3	ZNF839	14	102792551	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	64731882	102792551	4556989	57	13166											
ANKS4B	257629	broad.mit.edu	37	chr16	21261689	21261689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatgaatccattctcaatCgtccaggtctaggaagtatt	12	12	7	10	1	2	1	1	1	2	0	6	2	4	2	3	2	0	1	3	2	5	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:21261689C>T	ENST00000311620.5	+	2	875	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	268					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CATTCTCAATCGTCCAGGTCT	0.468																																						uc010bwp.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(802-804)Cgt>Tgt		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.							97	102	100					16																	21261689		2042	4201	6243	SO:0001583	missense	257629							g.chr16:21261689C>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.802C>T	16.37:g.21261689C>T	ENSP00000308772:p.Arg268Cys					CRYM_uc010bwq.1_Intron	p.R268C	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	845	+			268						Missense_Mutation	SNP	ENST00000311620.5	37	c.802C>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314570	0.60524	.	.	ENSG00000175311	ENST00000311620	T	0.64438	-0.1	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.78801	2.425	0.80722	D	1	P	0.36909	0.573	B	0.25987	0.065	T	0.66763	-0.5841	10	0.87932	D	0	-12.0527	14.0004	0.64431	0.0:0.9272:0.0:0.0728	.	268	Q8N8V4	ANS4B_HUMAN	C	268	ENSP00000308772:R268C	ENSP00000308772:R268C	R	+	1	0	ANKS4B	21169190	0.906000	0.30813	0.964000	0.40570	0.619000	0.37552	1.882000	0.39648	1.439000	0.47511	0.591000	0.81541	CGT		0.468	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		T	21261689	C	T	21261689	3	4	186	1	0	0	0	0	1	0	0	0	691	884	31	2	808	2	ANKS4B	16	21261689	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21261689	69093064	58	13167											
PRKCB	5579	broad.mit.edu	37	chr16	24185839	24185839	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttaatttcagAttttacgctgcagaaattgc	9	22	5	5	1	1	2	1	0	0	2	1	2	1	2	0	0	3	2	0	0	3	10			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:24185839A>T	ENST00000321728.7	+	12	1507	c.1332A>T	c.(1330-1332)gtA>gtT	p.V444V	PRKCB_ENST00000303531.7_Splice_Site_p.V444V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	444	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TTAATTTCAGATTTTACGCTG	0.383																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.e12-1		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						60	61	61					16																	24185839		2197	4300	6497	SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24185839A>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1332-1A>T	16.37:g.24185839A>T						PRKCB_uc002dme.3_Splice_Site_p.V444_splice	p.V444_splice	NM_212535	NP_997700	P05771	KPCB_HUMAN			12	1529	+			444			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1332_splice	CCDS10618.1																																																																																				0.383	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Silent	T	24185839	A	T	24185839	5	4	186	1	0	0	0	0	0	0	1	0	12508	347	12	5	1378	5	PRKCB	16	24185839	Splice_Site	SNP	A	TCGA-27-1834-01A-01W-0643-08	2924150	24185839	66168914	59	13168											
CHD9	80205	broad.mit.edu	37	chr16	53337839	53337839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggatttgcttattggtgCtgccaaacacggggtgagcc	8	11	14	8	1	0	1	0	1	0	0	0	2	0	2	2	4	5	2	2	4	3	4	rs201408451		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:53337839C>T	ENST00000398510.3	+	30	6008	c.5921C>T	c.(5920-5922)gCt>gTt	p.A1974V	CHD9_ENST00000447540.1_Missense_Mutation_p.A1974V|CHD9_ENST00000564845.1_Missense_Mutation_p.A1974V|CHD9_ENST00000566029.1_Missense_Mutation_p.A1974V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1974					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTATTGGTGCTGCCAAACAC	0.468																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5920-5922)gCt>gTt		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							116	112	113					16																	53337839		1980	4152	6132	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53337839C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5921C>T	16.37:g.53337839C>T	ENSP00000381522:p.Ala1974Val					CHD9_uc002egy.3_Missense_Mutation_p.A1974V|CHD9_uc002ehc.3_Missense_Mutation_p.A1974V|CHD9_uc002ehf.3_Missense_Mutation_p.A1088V|CHD9_uc002ehg.2_Missense_Mutation_p.A1088V|CHD9_uc010cbw.3_Intron	p.A1974V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			29	6085	+		all_cancers(37;0.0212)	1974					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5921C>T		.	.	.	.	.	.	.	.	.	.	C	19.54	3.847448	0.71603	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.87966	-2.32;-2.32	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000009	D	0.91236	0.7238	L	0.39898	1.24	0.80722	D	1	P;D;D	0.89917	0.678;0.999;1.0	B;D;D	0.85130	0.421;0.994;0.997	D	0.88549	0.3115	10	0.33141	T	0.24	-18.4112	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1974;1974;1974	Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;CHD9_HUMAN;.	V	1974	ENSP00000396345:A1974V;ENSP00000381522:A1974V	ENSP00000381522:A1974V	A	+	2	0	CHD9	51895340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	GCT		0.468	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		T	53337839	C	T	53337839	3	4	186	1	0	0	0	0	1	0	0	0	3332	797	28	3	6039	3	CHD9	16	53337839	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	29152000	53337839	37016914	60	13169											
SEZ6	124925	broad.mit.edu	37	chr17	27308674	27308674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgtgattcgaagcatagGggactctgactccggactcc	9	9	12	11	2	1	2	0	2	1	0	4	5	3	4	2	3	2	2	2	3	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:27308674G>A	ENST00000317338.12	-	2	867	c.439C>T	c.(439-441)Cct>Tct	p.P147S	SEZ6_ENST00000442608.3_Missense_Mutation_p.P147S|SEZ6_ENST00000360295.9_Missense_Mutation_p.P147S|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.P147S			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	147	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGAAGCATAGGGGACTCTGAC	0.652																																						uc002hdp.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(439-441)Cct>Tct		Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.							38	42	40					17																	27308674		2203	4300	6503	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27308674G>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.439C>T	17.37:g.27308674G>A	ENSP00000312942:p.Pro147Ser					SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	p.P147S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		1	633	-	Lung NSC(42;0.0137)		147			Pro-rich.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.439C>T	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788152	0.16258	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.26957	1.74;1.7;2.62	4.84	0.464	0.16706	.	0.267871	0.25222	N	0.032231	T	0.14787	0.0357	N	0.19112	0.55	0.21719	N	0.999575	B;P;B	0.44478	0.015;0.836;0.018	B;B;B	0.44085	0.021;0.44;0.021	T	0.10894	-1.0610	10	0.49607	T	0.09	.	3.7746	0.08654	0.284:0.0:0.5471:0.1689	.	147;147;147	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	S	147;147;22;147;147	ENSP00000403784:P147S;ENSP00000353440:P147S;ENSP00000337407:P147S	ENSP00000312942:P22S	P	-	1	0	SEZ6	24332800	0.053000	0.20554	0.281000	0.24762	0.373000	0.29922	0.630000	0.24553	-0.122000	0.11766	0.462000	0.41574	CCT		0.652	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			A	27308674	G	A	27308674	3	1	186	1	0	0	0	0	1	0	0	0	14142	1232	43	3	2622	3	SEZ6	17	27308674	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		27308674	53886536	61	13170											
PPM1D	8493	broad.mit.edu	37	chr17	58678099	58678099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgcgacgggcacggCgggcgggaggcggcacagtt	5	4	21	11	7	0	0	0	0	0	0	0	2	0	1	1	6	1	3	1	6	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:58678099C>T	ENST00000305921.3	+	1	556	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	108	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACGGGCACGGCGGGCGGGAGG	0.692																																						uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(322-324)ggC>ggT		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.							20	17	18					17																	58678099		1936	3902	5838	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58678099C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.324C>T	17.37:g.58678099C>T						PPM1D_uc010ddm.2_Non-coding_Transcript	p.G108G	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		0	556	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		108			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.324C>T	CCDS11625.1																																																																																				0.692	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		T	58678099	C	T	58678099	2	4	186	1	0	0	0	0	0	0	0	1	12337	755	27	1		1	PPM1D	17	58678099	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	31369425	58678099	22517111	62	13171											
SLC39A11	201266	broad.mit.edu	37	chr17	70644980	70644980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtcgtccatgaccacGtagaccatggcaccggcagc	10	7	11	13	3	0	3	0	2	0	1	2	3	1	3	4	2	1	3	4	2	1	1	rs146713017		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:70644980G>A	ENST00000542342.2	-	9	1000	c.912C>T	c.(910-912)taC>taT	p.Y304Y	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.Y297Y	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	304					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCATGACCACGTAGACCATGG	0.642																																					NSCLC(95;736 1527 12296 39625 41839)	uc002jjb.3																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(910-912)taC>taT		Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	72	70	70		912,891	-3.3	1	17	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC39A11	NM_001159770.1,NM_139177.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	304/343,297/336	70644980	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:70644980G>A	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.912C>T	17.37:g.70644980G>A						SLC39A11_uc002jja.3_Silent_p.Y297Y	p.Y304Y	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN			8	1027	-			304					B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	c.912C>T	CCDS54160.1																																																																																				0.642	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			A	70644980	G	A	70644980	2	1	186	1	0	0	0	0	0	0	0	1	14614	1140	40	1		1	SLC39A11	17	70644980	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	11966881	70644980	10550230	63	13172											
TBC1D16	125058	broad.mit.edu	37	chr17	77915925	77915925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcaggagcatctggtcCgtggccagctgctgctcgat	7	9	14	11	2	1	0	0	0	1	0	3	2	2	1	2	3	5	5	2	3	1	0	rs149251119	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:77915925C>T	ENST00000310924.2	-	11	2104	c.1989G>A	c.(1987-1989)acG>acA	p.T663T	TBC1D16_ENST00000340848.7_Silent_p.T301T|TBC1D16_ENST00000576768.1_Silent_p.T288T	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	663							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCATCTGGTCCGTGGCCAGCT	0.622													C|||	2	0.000399361	0	0	5008	,	,		11668	0		0.002	False		,,,				2504	0				Ovarian(14;397 562 4850 31922 49378)	uc002jxj.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(1987-1989)acG>acA		Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.		C		0,4404		0,0,2202	72	46	55		1989	-9.1	0.6	17	dbSNP_134	55	5,8595	3.0+/-9.4	1,3,4296	no	coding-synonymous	TBC1D16	NM_019020.2		1,3,6498	TT,TC,CC		0.0581,0.0,0.0384		663/768	77915925	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77915925C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1989G>A	17.37:g.77915925C>T						TBC1D16_uc002jxh.3_Silent_p.T301T|TBC1D16_uc002jxi.3_Silent_p.T288T	p.T663T	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		10	2105	-	all_neural(118;0.167)		663					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.1989G>A	CCDS11766.1																																																																																				0.622	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		T	77915925	C	T	77915925	2	4	186	1	0	0	0	0	0	0	0	1	15602	639	23	2		2	TBC1D16	17	77915925	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	7270945	77915925	3279285	64	13173											
CYP2A13	1553	broad.mit.edu	37	chr19	41597775	41597775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggatcccaattccccaCgggacttcatcgactccttt	7	11	7	16	3	1	0	1	0	0	0	5	3	4	2	4	2	0	1	4	2	1	3	rs143140637	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr19:41597775C>T	ENST00000330436.3	+	5	793	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	265					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAATTCCCCACGGGACTTCAT	0.582													c|||	2	0.000399361	0.0015	0	5008	,	,		19160	0		0	False		,,,				2504	0					uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(793-795)Cgg>Tgg		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)	C	TRP/ARG	2,4404		0,2,2201	158	123	135		793	0.5	0.9	19	dbSNP_134	135	0,8600		0,0,4300	no	missense	CYP2A13	NM_000766.3	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	265/495	41597775	2,13004	2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597775C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.793C>T	19.37:g.41597775C>T	ENSP00000332679:p.Arg265Trp						p.R265W	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			4	802	+			265					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.793C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183220	0.38511	4.54E-4	0.0	ENSG00000197838	ENST00000330436	T	0.71461	-0.57	4.24	0.54	0.17163	.	0.117466	0.53938	N	0.000048	T	0.75810	0.3900	H	0.96080	3.765	0.21675	N	0.999595	P	0.48503	0.911	B	0.37650	0.255	T	0.73588	-0.3935	10	0.87932	D	0	.	12.1887	0.54254	0.5573:0.4427:0.0:0.0	.	265	Q16696	CP2AD_HUMAN	W	265	ENSP00000332679:R265W	ENSP00000332679:R265W	R	+	1	2	CYP2A13	46289615	0.029000	0.19370	0.948000	0.38648	0.820000	0.46376	0.343000	0.19944	0.026000	0.15269	0.484000	0.47621	CGG		0.582	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41597775	C	T	41597775	3	4	186	1	0	0	0	0	1	0	0	0	4161	527	19	1	811	1	CYP2A13	19	41597775	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		41597775	17531208	65	13174											
HAO1	54363	broad.mit.edu	37	chr20	7915230	7915230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtcctaaaacagaagTcgacagatctgtttcagcaa	13	10	7	11	1	3	2	1	0	2	2	5	3	4	2	2	0	2	2	2	0	4	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:7915230T>G	ENST00000378789.3	-	2	241	c.190A>C	c.(190-192)Act>Cct	p.T64P		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	64	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAAACAGAAGTCGACAGATCT	0.458																																						uc002wmw.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(190-192)Act>Cct		Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.							76	67	70					20																	7915230		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915230T>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.190A>C	20.37:g.7915230T>G	ENSP00000368066:p.Thr64Pro					HAO1_uc010gbu.3_Missense_Mutation_p.T64P	p.T64P	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			1	214	-			64			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.190A>C	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760524	0.69763	.	.	ENSG00000101323	ENST00000378789	T	0.38560	1.13	5.87	4.77	0.60923	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.143969	0.64402	D	0.000005	T	0.73202	0.3557	H	0.96048	3.76	0.52099	D	0.99994	D;D	0.60575	0.988;0.988	D;D	0.77557	0.99;0.99	T	0.79533	-0.1764	10	0.87932	D	0	0.5862	10.7813	0.46379	0.0:0.075:0.0:0.925	.	64;64	A8K058;Q9UJM8	.;HAOX1_HUMAN	P	64	ENSP00000368066:T64P	ENSP00000368066:T64P	T	-	1	0	HAO1	7863230	0.992000	0.36948	0.982000	0.44146	0.899000	0.52679	2.329000	0.43876	1.059000	0.40554	0.533000	0.62120	ACT		0.458	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			G	7915230	T	G	7915230	3	3	186	1	0	0	0	0	1	0	0	0	6951	1667	58	5	950	5	HAO1	20	7915230	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08		7915230	55110290	66	13175											
CSTF1	1477	broad.mit.edu	37	chr20	54978729	54978729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaccccgggttcatgacGtgcagcgatgacttcagagc	10	7	11	13	3	2	3	2	2	0	1	2	4	2	3	3	1	4	2	3	1	1	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:54978729G>A	ENST00000217109.4	+	6	1594	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	414					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GGTTCATGACGTGCAGCGATG	0.587																																						uc002xxl.1																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(1240-1242)acG>acA		Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.							136	122	127					20																	54978729		2203	4300	6503	SO:0001819	synonymous_variant	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54978729G>A		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1242G>A	20.37:g.54978729G>A						CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T	p.T414T	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		5	1442	+			414					Q5QPD8	Silent	SNP	ENST00000217109.4	37	c.1242G>A	CCDS13452.1																																																																																				0.587	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		A	54978729	G	A	54978729	2	1	186	1	0	0	0	0	0	0	0	1	3983	1132	40	1		1	CSTF1	20	54978729	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	47063499	54978729	8046791	67	13176											
COL6A2	1292	broad.mit.edu	37	chr21	47545941	47545941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggacgggcgccacgaccctCgggacgatgacctcaacttg	8	5	13	15	6	1	1	1	1	0	0	2	5	1	3	3	3	1	0	3	3	1	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr21:47545941C>T	ENST00000300527.4	+	26	2316	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	COL6A2_ENST00000310645.5_Missense_Mutation_p.R738W|COL6A2_ENST00000357838.4_Missense_Mutation_p.R738W|COL6A2_ENST00000397763.1_Missense_Mutation_p.R738W|COL6A2_ENST00000409416.1_Missense_Mutation_p.R738W	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	738	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R738W(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACGACCCTCGGGACGATGA	0.622																																						uc002zia.1																			3	Substitution - Missense(3)	p.R738W(4)	kidney(3)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2212-2214)Cgg>Tgg		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							83	81	81					21																	47545941		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545941C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2212C>T	21.37:g.47545941C>T	ENSP00000300527:p.Arg738Trp					COL6A2_uc002zhz.1_Missense_Mutation_p.R738W|COL6A2_uc002zhy.1_Missense_Mutation_p.R738W|COL6A2_uc010gqe.2_5'Flank	p.R738W	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	25	2294	+	Breast(49;0.245)		738			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2212C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417810	0.42918	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.05	4.05	0.47172	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90778	0.4677	10	0.72032	D	0.01	-13.324	16.2114	0.82164	0.0:1.0:0.0:0.0	.	738;738;738	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	W	738	ENSP00000300527:R738W;ENSP00000350497:R738W;ENSP00000312529:R738W;ENSP00000387115:R738W;ENSP00000380870:R738W	ENSP00000300527:R738W	R	+	1	2	COL6A2	46370369	0.998000	0.40836	0.100000	0.21137	0.479000	0.33129	3.914000	0.56401	1.808000	0.52836	0.491000	0.48974	CGG		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47545941	C	T	47545941	3	4	186	1	0	0	0	0	1	0	0	0	3700	875	31	2	2310	2	COL6A2	21	47545941	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		47545941	583954	68	13177											
CSF2RA	1438	broad.mit.edu	37	chrX	1407665	1407665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggaagggagggtacCgctgctcagaatttctcctg	8	10	12	11	1	2	1	1	0	1	1	4	3	3	3	3	3	2	3	3	3	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chrX:1407665C>T	ENST00000381524.3	+	6	543	c.357C>T	c.(355-357)acC>acT	p.T119T	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Silent_p.T119T|CSF2RA_ENST00000381500.1_Silent_p.T119T|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381509.3_Silent_p.T119T|CSF2RA_ENST00000432318.2_Silent_p.T119T|CSF2RA_ENST00000361536.3_Silent_p.T119T|CSF2RA_ENST00000381529.3_Silent_p.T119T|CSF2RA_ENST00000355805.2_Silent_p.T119T|CSF2RA_ENST00000417535.2_Silent_p.T119T			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	119					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGGAGGGTACCGCTGCTCAGA	0.517																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(355-357)acC>acT		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	Sargramostim(DB00020)						188	197	194					X																	1407665		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407665C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.357C>T	X.37:g.1407665C>T						CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.T119T|CSF2RA_uc004cpq.2_Silent_p.T119T|CSF2RA_uc004cpn.2_Silent_p.T119T|CSF2RA_uc004cpo.2_Silent_p.T119T|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.T119T|CSF2RA_uc010ncv.2_Silent_p.T119T|CSF2RA_uc004cpr.2_Silent_p.T119T	p.T119T	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN			6	679	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	119					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.357C>T	CCDS35191.1																																																																																				0.517	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1407665	C	T	1407665	2	4	186	1	0	0	0	0	0	0	0	1	3934	639	23	2		2	CSF2RA	23	1407665	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08		1407665	153862895	69	13178											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131552	150131552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagctgctgctggagaCggaacggctgctgggagagg	9	5	19	8	2	0	3	0	0	0	3	0	6	0	4	0	5	6	6	0	5	1	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:150131552C>T	ENST00000369124.4	+	6	1342	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.T321M|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.T172M	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	355	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTGGAGACGGAACGGCTG	0.607																																						uc001ett.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(1063-1065)aCg>aTg		Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.							46	50	48					1																	150131552		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131552C>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1064C>T	1.37:g.150131552C>T	ENSP00000358120:p.Thr355Met					PLEKHO1_uc001ets.3_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.3_Missense_Mutation_p.T183M|PLEKHO1_uc021oyc.1_Missense_Mutation_p.T172M	p.T355M	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1342	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		355			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.1064C>T	CCDS945.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653787	0.88056	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124	T;T	0.49139	0.79;0.81	5.24	5.24	0.73138	.	0.109676	0.64402	D	0.000006	T	0.27900	0.0687	N	0.14661	0.345	0.46586	D	0.999115	D	0.61697	0.99	P	0.48270	0.572	T	0.02837	-1.1104	10	0.29301	T	0.29	-14.9568	17.9952	0.89181	0.0:1.0:0.0:0.0	.	355	Q53GL0	PKHO1_HUMAN	M	172;321;355	ENSP00000025469:T321M;ENSP00000358120:T355M	ENSP00000025469:T321M	T	+	2	0	PLEKHO1	148398176	0.998000	0.40836	0.997000	0.53966	0.921000	0.55340	4.035000	0.57297	2.726000	0.93360	0.655000	0.94253	ACG		0.607	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		T	150131552	C	T	150131552	3	4	187	1	0	0	0	0	1	0	0	0	12084	536	19	1	1086	1	PLEKHO1	1	150131552	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		150131552	99119069	1	13179											
NUP210L	91181	broad.mit.edu	37	chr1	154110601	154110601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcactctcccttgaacCatttttgcaacttggtattt	7	17	5	12	0	2	1	1	1	1	0	3	1	2	1	3	1	3	2	3	1	3	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:154110601C>A	ENST00000368559.3	-	6	902	c.831G>T	c.(829-831)atG>atT	p.M277I	NUP210L_ENST00000271854.3_Missense_Mutation_p.M277I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	277					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCCCTTGAACCATTTTTGCAA	0.343																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(829-831)atG>atT		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							100	98	99					1																	154110601		1819	4087	5906	SO:0001583	missense	91181					integral to membrane		g.chr1:154110601C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.831G>T	1.37:g.154110601C>A	ENSP00000357547:p.Met277Ile					NUP210L_uc009woq.3_5'Flank|NUP210L_uc010peh.2_Missense_Mutation_p.M277I	p.M277I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		5	903	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		277					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.831G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	1.021	-0.684963	0.03328	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.04917	3.53;3.53	5.02	4.03	0.46877	.	0.172287	0.41823	D	0.000816	T	0.00666	0.0022	N	0.04746	-0.17	0.30267	N	0.792617	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50701	-0.8797	10	0.02654	T	1	-2.4431	2.8771	0.05635	0.1864:0.5329:0.1792:0.1014	.	277;277	E7EP56;Q5VU65	.;P210L_HUMAN	I	277	ENSP00000357547:M277I;ENSP00000271854:M277I	ENSP00000271854:M277I	M	-	3	0	NUP210L	152377225	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.241000	0.18065	2.607000	0.88179	0.585000	0.79938	ATG		0.343	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154110601	C	A	154110601	3	1	187	1	0	0	0	0	1	0	0	0	10761	594	21	5	4975	5	NUP210L	1	154110601	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	3979049	154110601	95140020	2	13180											
SPTA1	6708	broad.mit.edu	37	chr1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcagagctttcatactGtctccaaatgaattgagatc	11	13	7	10	1	2	3	1	2	1	2	5	4	3	3	2	0	2	2	2	0	3	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	953					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413																																						uc001fst.1																			1	Substitution - Missense(1)	p.D953E(2)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2857-2859)gaC>gaG		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							169	172	171					1																	158626393		1854	4088	5942	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626393G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2859C>G	1.37:g.158626393G>C	ENSP00000357129:p.Asp953Glu						p.D953E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	3058	-	all_hematologic(112;0.0378)		953					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2859C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292039	0.40594	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.64618	-0.11;-0.11	5.5	-0.31	0.12765	.	0.230977	0.22077	N	0.064944	T	0.12987	0.0315	N	0.11560	0.145	0.28159	N	0.929082	B	0.10296	0.003	B	0.19946	0.027	T	0.32719	-0.9896	10	0.08599	T	0.76	.	6.082	0.19946	0.1474:0.0:0.4682:0.3844	.	953	P02549	SPTA1_HUMAN	E	953	ENSP00000357130:D953E;ENSP00000357129:D953E	ENSP00000357129:D953E	D	-	3	2	SPTA1	156893017	0.999000	0.42202	0.874000	0.34290	0.622000	0.37654	0.345000	0.19979	-0.191000	0.10448	-0.274000	0.10170	GAC		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158626393	G	C	158626393	3	2	187	1	0	0	0	0	1	0	0	0	15115	1368	48	5	4532	5	SPTA1	1	158626393	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	4515792	158626393	90624228	3	13181											
SPTA1	6708	broad.mit.edu	37	chr1	158632602	158632602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctaagagcttcttctttCgggtggccagtggctctttc	4	15	12	10	1	4	1	0	0	4	1	6	1	4	1	1	4	1	2	1	4	1	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158632602C>T	ENST00000368147.4	-	17	2534	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	785					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTTCTTTCGGGTGGCCAG	0.478																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2353-2355)cGa>cAa		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							92	93	93					1																	158632602		1926	4134	6060	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632602C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2354G>A	1.37:g.158632602C>T	ENSP00000357129:p.Arg785Gln						p.R785Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			16	2553	-	all_hematologic(112;0.0378)		785					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2354G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080208	0.76528	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61040	0.14;0.14	4.41	4.41	0.53225	.	0.000000	0.29624	N	0.011633	T	0.76421	0.3985	M	0.91459	3.21	0.46356	D	0.999006	D	0.89917	1.0	D	0.97110	1.0	T	0.82204	-0.0573	10	0.87932	D	0	.	13.8662	0.63590	0.0:1.0:0.0:0.0	.	785	P02549	SPTA1_HUMAN	Q	785	ENSP00000357130:R785Q;ENSP00000357129:R785Q	ENSP00000357129:R785Q	R	-	2	0	SPTA1	156899226	1.000000	0.71417	0.695000	0.30226	0.397000	0.30659	6.820000	0.75267	2.270000	0.75569	0.655000	0.94253	CGA		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158632602	C	T	158632602	3	4	187	1	0	0	0	0	1	0	0	0	15115	884	31	2	5049	2	SPTA1	1	158632602	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	6209	158632602	90618019	4	13182											
LAMB3	3914	broad.mit.edu	37	chr1	209804029	209804029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagaagggtgcacagcGctcacaatttgggccggcag	9	8	15	9	2	1	1	1	0	0	1	1	1	1	1	1	3	2	5	1	3	3	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:209804029G>A	ENST00000356082.4	-	9	1008	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	LAMB3_ENST00000367030.3_Missense_Mutation_p.R292C|LAMB3_ENST00000391911.1_Missense_Mutation_p.R292C	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	292	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.		R -> L (in dbSNP:rs12091253).		brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCACAGCGCTCACAATTT	0.597																																						uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(874-876)Cgc>Tgc		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.							62	60	60					1																	209804029		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209804029G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.874C>T	1.37:g.209804029G>A	ENSP00000348384:p.Arg292Cys					LAMB3_uc009xco.3_Missense_Mutation_p.R292C|LAMB3_uc001hhh.3_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	p.R292C	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	7	1264	-			292		R -> L (in dbSNP:rs12091253).	Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.874C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960571	0.74016	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.64991	-0.13;-0.13;-0.13	4.95	4.95	0.65309	EGF-like, laminin (4);	0.112554	0.64402	D	0.000009	D	0.82595	0.5071	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.927	D	0.86754	0.1962	10	0.87932	D	0	.	18.2272	0.89921	0.0:0.0:1.0:0.0	.	292;292	B4DL55;Q13751	.;LAMB3_HUMAN	C	292	ENSP00000375778:R292C;ENSP00000348384:R292C;ENSP00000355997:R292C	ENSP00000348384:R292C	R	-	1	0	LAMB3	207870652	1.000000	0.71417	0.865000	0.33974	0.284000	0.27059	8.862000	0.92283	2.474000	0.83562	0.650000	0.86243	CGC		0.597	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209804029	G	A	209804029	3	1	187	1	0	0	0	0	1	0	0	0	8612	1087	38	1	2704	1	LAMB3	1	209804029	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	51171427	209804029	39446592	5	13183											
SIPA1L2	57568	broad.mit.edu	37	chr1	232615447	232615447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgtagtctttgtatgtggTatagagagagtgcgtgcccg	7	14	14	6	3	1	2	0	0	1	2	2	3	1	2	1	1	2	3	1	1	4	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:232615447T>C	ENST00000366630.1	-	6	2369	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T671A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	671	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGTATGTGGTATAGAGAGAG	0.448																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2011-2013)Acc>Gcc		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							174	187	183					1																	232615447		2095	4254	6349	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232615447T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2011A>G	1.37:g.232615447T>C	ENSP00000355589:p.Thr671Ala						p.T671A	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			4	2169	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	671			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2011A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121373	0.77436	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.94184	-3.37;-3.37	5.54	5.54	0.83059	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	L	0.45744	1.44	0.80722	D	1	P	0.51351	0.944	P	0.58266	0.836	D	0.93562	0.6896	10	0.36615	T	0.2	-34.7516	15.9708	0.80019	0.0:0.0:0.0:1.0	.	671	Q9P2F8	SI1L2_HUMAN	A	671	ENSP00000355589:T671A;ENSP00000262861:T671A	ENSP00000262861:T671A	T	-	1	0	SIPA1L2	230682070	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.994000	0.88315	2.231000	0.72958	0.533000	0.62120	ACC		0.448	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232615447	T	C	232615447	3	2	187	1	0	0	0	0	1	0	0	0	14330	1638	57	4	3225	4	SIPA1L2	1	232615447	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	22811418	232615447	16635174	6	13184											
KIAA1804	84451	broad.mit.edu	37	chr1	233515030	233515030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggaagagaagaagaaaCgagagggaatcttccagcgg	17	3	14	7	2	1	4	0	0	1	4	2	8	2	6	2	3	2	0	2	3	6	1	rs373332852		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:233515030C>T	ENST00000366624.3	+	9	2539	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.R206*	NM_032435.2	NP_115811.2																					GAAGAAGAAACGAGAGGGAAT	0.602																																						uc001hvt.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52						c.(2278-2280)Cga>Tga		Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.							65	73	70					1																	233515030		2203	4300	6503	SO:0001587	stop_gained	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233515030C>T																												ENST00000366624.3:c.2278C>T	1.37:g.233515030C>T	ENSP00000355583:p.Arg760*					KIAA1804_uc001hvu.4_Nonsense_Mutation_p.R206*	p.R760*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			8	2539	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	760						Nonsense_Mutation	SNP	ENST00000366624.3	37	c.2278C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	40	8.044112	0.98627	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.45	3.51	0.40186	.	0.292889	0.28989	N	0.013482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5871	0.50925	0.3242:0.6758:0.0:0.0	.	.	.	.	X	760;206	.	ENSP00000355581:R206X	R	+	1	2	RP5-862P8.2	231581653	0.005000	0.15991	0.005000	0.12908	0.026000	0.11368	0.728000	0.26013	1.043000	0.40175	0.650000	0.86243	CGA		0.602	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			T	233515030	C	T	233515030	4	4	187	1	0	0	0	0	0	1	0	0	8259	528	19	1	2312	1	KIAA1804	1	233515030	Nonsense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	899583	233515030	15735591	7	13185											
OR2M4	26245	broad.mit.edu	37	chr1	248402638	248402638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtacaccatcctcatGaatccgaaactctgtgtctt	10	13	5	13	1	4	1	2	1	2	0	6	2	6	1	3	0	2	1	3	0	3	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:248402638G>T	ENST00000306687.1	+	1	408	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	136					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCCTCATGAATCCGAAAC	0.473																																						uc010pzh.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(406-408)atG>atT		Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.							166	138	147					1																	248402638		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402638G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.408G>T	1.37:g.248402638G>T	ENSP00000306688:p.Met136Ile						p.M136I	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	408	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		136					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.408G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	10.41	1.341617	0.24339	.	.	ENSG00000171180	ENST00000306687	T	0.00551	6.65	3.48	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.123989	0.36167	N	0.002750	T	0.01222	0.0040	M	0.83603	2.65	0.23282	N	0.997984	P	0.49090	0.919	P	0.48770	0.589	T	0.34153	-0.9840	10	0.59425	D	0.04	.	11.1139	0.48249	0.0:0.0:0.8127:0.1873	.	136	Q96R27	OR2M4_HUMAN	I	136	ENSP00000306688:M136I	ENSP00000306688:M136I	M	+	3	0	OR2M4	246469261	1.000000	0.71417	0.867000	0.34043	0.278000	0.26855	3.388000	0.52509	0.755000	0.32990	-0.414000	0.06135	ATG		0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		T	248402638	G	T	248402638	3	4	187	1	0	0	0	0	1	0	0	0	11012	1290	45	5	410	5	OR2M4	1	248402638	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	14887608	248402638	847983	8	13186											
IFT172	26160	broad.mit.edu	37	chr2	27670769	27670769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccatgtcagtgaagatCcttttgtagatattgaagtt	11	15	8	7	0	2	4	2	2	0	2	3	4	3	4	2	0	0	2	2	0	4	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:27670769C>A	ENST00000260570.3	-	41	4552	c.4449G>T	c.(4447-4449)agG>agT	p.R1483S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1483					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTGAAGATCCTTTTGTAGA	0.502																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4447-4449)agG>agT		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.							105	101	102					2																	27670769		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27670769C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4449G>T	2.37:g.27670769C>A	ENSP00000260570:p.Arg1483Ser					IFT172_uc010ezb.3_Non-coding_Transcript	p.R1483S	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			40	4500	-	Acute lymphoblastic leukemia(172;0.155)		1483					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4449G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611984	0.66558	.	.	ENSG00000138002	ENST00000260570	T	0.45668	0.89	5.37	4.49	0.54785	.	0.053889	0.64402	D	0.000001	T	0.56949	0.2020	M	0.81497	2.545	0.80722	D	1	P	0.50443	0.935	P	0.57324	0.818	T	0.57081	-0.7872	10	0.34782	T	0.22	-14.9958	8.708	0.34367	0.1502:0.7689:0.0:0.0809	.	1483	Q9UG01	IF172_HUMAN	S	1483	ENSP00000260570:R1483S	ENSP00000260570:R1483S	R	-	3	2	IFT172	27524273	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.532000	0.23067	1.277000	0.44412	0.561000	0.74099	AGG		0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		A	27670769	C	A	27670769	3	1	187	1	0	0	0	0	1	0	0	0	7557	854	30	5	832	5	IFT172	2	27670769	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		27670769	215528604	9	13187											
CAPN13	92291	broad.mit.edu	37	chr2	30959413	30959413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgcgcaaactcctcttGgtctagccgcccattcactt	7	11	7	16	3	3	0	1	0	2	0	5	0	4	0	3	1	2	1	3	1	2	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:30959413G>T	ENST00000295055.8	-	18	1854	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K	CAPN13_ENST00000534090.2_Missense_Mutation_p.Q560K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	560	EF-hand 1.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCCTCTTGGTCTAGCCGC	0.537																																						uc021vfn.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1678-1680)Caa>Aaa		Homo sapiens calpain 13 (CAPN13), mRNA.							86	91	89					2																	30959413		2021	4179	6200	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30959413G>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1678C>A	2.37:g.30959413G>T	ENSP00000295055:p.Gln560Lys					CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.Q556K	p.Q560K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			16	1710	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		560			EF-hand 1.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1678C>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.225999	0.00283	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.28666	1.6;1.6	5.06	2.23	0.28157	EF-hand-like domain (1);	5.695680	0.01015	U	0.003894	T	0.33177	0.0854	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.29119	-1.0022	10	0.59425	D	0.04	.	8.775	0.34756	0.0:0.3095:0.5302:0.1604	.	560	Q6MZZ7	CAN13_HUMAN	K	560	ENSP00000295055:Q560K;ENSP00000431298:Q560K	ENSP00000295055:Q560K	Q	-	1	0	CAPN13	30812917	0.001000	0.12720	0.001000	0.08648	0.058000	0.15608	0.602000	0.24134	0.246000	0.21394	0.552000	0.68991	CAA		0.537	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		T	30959413	G	T	30959413	3	4	187	1	0	0	0	0	1	0	0	0	2626	1357	47	5	351	5	CAPN13	2	30959413	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	3288644	30959413	212239960	10	13188											
FAM82A1	151393	broad.mit.edu	37	chr2	38202445	38202445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacacaagaaaagaaacatTatgctaatattggtaagcat	20	9	6	6	0	0	2	0	0	0	2	0	2	0	2	0	1	3	3	0	1	8	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:38202445T>C	ENST00000406384.1	+	4	912	c.718T>C	c.(718-720)Tat>Cat	p.Y240H	RMDN2_ENST00000417700.2_Missense_Mutation_p.Y95H|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000407257.1_Missense_Mutation_p.Y418H|RMDN2_ENST00000354545.2_Missense_Mutation_p.Y240H|RMDN2_ENST00000234195.3_Missense_Mutation_p.Y418H	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	240						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAAGAAACATTATGCTAATAT	0.323																																						uc002rqn.2																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						c.(1252-1254)Tat>Cat		Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.							103	103	103					2																	38202445		2203	4299	6502	SO:0001583	missense	151393					cytoplasm|integral to membrane|microtubule|spindle pole	binding	g.chr2:38202445T>C	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.718T>C	2.37:g.38202445T>C	ENSP00000386004:p.Tyr240His					FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rql.3_Missense_Mutation_p.Y240H|FAM82A1_uc021vga.1_Missense_Mutation_p.Y240H|FAM82A1_uc002rqm.3_Missense_Mutation_p.Y95H	p.Y418H	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN			3	1378	+			240					A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1252T>C	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.200543	0.38905	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.12	5.12	0.69794	.	0.587283	0.16890	N	0.195326	T	0.47985	0.1475	M	0.63428	1.95	0.37244	D	0.906264	B;B;B;B	0.29612	0.12;0.251;0.158;0.158	B;B;B;B	0.33042	0.157;0.081;0.139;0.139	T	0.56523	-0.7965	10	0.59425	D	0.04	.	11.2216	0.48857	0.0:0.0:0.0:1.0	.	418;95;240;95	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	H	240;240;418;95;418;95	ENSP00000346549:Y240H;ENSP00000386004:Y240H;ENSP00000385049:Y418H;ENSP00000392977:Y95H;ENSP00000234195:Y418H;ENSP00000416367:Y95H	ENSP00000234195:Y418H	Y	+	1	0	FAM82A1	38055949	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.279000	0.58953	2.144000	0.66660	0.482000	0.46254	TAT		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		C	38202445	T	C	38202445	3	2	187	1	0	0	0	0	1	0	0	0	5630	1754	61	4	1722	4	FAM82A1	2	38202445	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	7243032	38202445	204996928	11	13189											
SULT1C4	27233	broad.mit.edu	37	chr2	108999906	108999906	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgaacatgtgaaaggAtggtgggaagccaaagacaa	16	6	14	5	0	0	3	0	2	0	1	0	5	0	5	1	4	2	1	1	4	5	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:108999906A>T	ENST00000272452.2	+	5	881	c.555A>T	c.(553-555)ggA>ggT	p.G185G	SULT1C4_ENST00000409309.3_Silent_p.G110G	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	185					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATGTGAAAGGATGGTGGGAAG	0.478																																						uc002tea.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(553-555)ggA>ggT		Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.							131	112	118					2																	108999906		2203	4300	6503	SO:0001819	synonymous_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108999906A>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.555A>T	2.37:g.108999906A>T						SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.G110G	p.G185G	NM_006588	NP_006579	O75897	ST1C4_HUMAN			4	928	+			185					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	37	c.555A>T	CCDS2077.1																																																																																				0.478	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		T	108999906	A	T	108999906	2	4	187	1	0	0	0	0	0	0	0	1	15376	320	12	5		5	SULT1C4	2	108999906	Silent	SNP	A	TCGA-27-1835-01A-01D-1494-08	70797461	108999906	134199467	12	13190											
RPRM	56475	broad.mit.edu	37	chr2	154334770	154334770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtagggccccacgaccaCcgcctccacctccttagacg	8	6	8	19	3	1	1	1	0	0	1	3	2	3	1	8	1	0	1	8	1	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:154334770C>T	ENST00000325926.3	-	1	552	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	104					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						CCCACGACCACCGCCTCCACC	0.637																																						uc002tyq.1																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(310-312)Gtg>Atg		Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.							36	34	34					2																	154334770		2203	4300	6503	SO:0001583	missense	56475				cell cycle arrest	cytoplasm|integral to membrane	protein binding	g.chr2:154334770C>T	AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"candidate mediator of the p53 dependent G2 arrest", "REPRIMO"	612171	"reprimo, TP53 dependant G2 arrest mediator candidate"			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.310G>A	2.37:g.154334770C>T	ENSP00000314946:p.Val104Met						p.V104M	NM_019845	NP_062819	Q9NS64	RPRM_HUMAN			0	553	-			104					B2R4V1	Missense_Mutation	SNP	ENST00000325926.3	37	c.310G>A	CCDS2198.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067050	0.76301	.	.	ENSG00000177519	ENST00000325926	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	L	0.59436	1.845	0.54753	D	0.999986	D	0.55172	0.97	P	0.59487	0.858	T	0.76035	-0.3106	9	0.66056	D	0.02	0.0544	15.3056	0.73990	0.0:1.0:0.0:0.0	.	104	Q9NS64	RPRM_HUMAN	M	104	.	ENSP00000314946:V104M	V	-	1	0	RPRM	154043016	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.405000	0.80007	2.200000	0.70718	0.591000	0.81541	GTG		0.637	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845		T	154334770	C	T	154334770	3	4	187	1	0	0	0	0	1	0	0	0	13618	507	18	3	23	3	RPRM	2	154334770	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	45334864	154334770	88864603	13	13191											
STAT4	6775	broad.mit.edu	37	chr2	192011451	192011451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagttttgaagaagaatcGttgccatggtttcattgtta	12	15	9	5	1	1	3	1	1	0	2	2	3	1	3	1	1	1	4	1	1	5	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:192011451G>A	ENST00000392320.2	-	3	475	c.161C>T	c.(160-162)aCg>aTg	p.T54M	STAT4_ENST00000358470.4_Missense_Mutation_p.T54M|STAT4_ENST00000409995.1_Missense_Mutation_p.T54M	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	54					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAAGAATCGTTGCCATGGT	0.323																																						uc002usm.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(160-162)aCg>aTg		Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.							79	76	77					2																	192011451		2203	4299	6502	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:192011451G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.161C>T	2.37:g.192011451G>A	ENSP00000376134:p.Thr54Met					STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.4_Missense_Mutation_p.T54M|STAT4_uc010zgl.2_Missense_Mutation_p.T54M	p.T54M	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		2	476	-			54					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.161C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731982	0.48939	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064;ENST00000409995;ENST00000450994	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.45	5.45	0.79879	STAT transcription factor, protein interaction (4);	0.193726	0.45606	D	0.000343	T	0.47451	0.1446	L	0.49778	1.585	0.45580	D	0.998529	B;B;B	0.32467	0.372;0.372;0.372	B;B;B	0.29176	0.099;0.099;0.099	T	0.48269	-0.9050	10	0.52906	T	0.07	-30.5114	14.6674	0.68918	0.0712:0.0:0.9288:0.0	.	54;54;54	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	M	54;54;27;54;54	ENSP00000351255:T54M;ENSP00000376134:T54M;ENSP00000403238:T27M;ENSP00000386288:T54M;ENSP00000412397:T54M	ENSP00000351255:T54M	T	-	2	0	STAT4	191719696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.946000	0.56644	2.838000	0.97847	0.655000	0.94253	ACG		0.323	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		A	192011451	G	A	192011451	3	1	187	1	0	0	0	0	1	0	0	0	15266	1145	40	1	2173	1	STAT4	2	192011451	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	37676681	192011451	51187922	14	13192											
CD28	940	broad.mit.edu	37	chr2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacatgaacatgactcccCgccgccccgggcccacccgc	8	4	8	21	4	0	2	0	2	0	0	1	2	1	2	7	1	2	0	7	1	2	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:204599561C>T	ENST00000324106.8	+	4	738	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C|CD28_ENST00000374481.3_Missense_Mutation_p.R113C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	197					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597																																						uc002vah.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(589-591)Cgc>Tgc		Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.							69	75	73					2																	204599561		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599561C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.589C>T	2.37:g.204599561C>T	ENSP00000324890:p.Arg197Cys					CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript	p.R197C	NM_006139	NP_006130	P10747	CD28_HUMAN			3	811	+			197					A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.589C>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844155	0.32606	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.75	3.84	0.44239	.	0.235357	0.27700	N	0.018215	D	0.89255	0.6663	M	0.81682	2.555	0.26573	N	0.973524	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.98	T	0.81393	-0.0953	10	0.87932	D	0	-17.9671	7.0568	0.25104	0.1728:0.7376:0.0:0.0896	.	78;197	P10747-2;P10747	.;CD28_HUMAN	C	113;211;197;78	ENSP00000363605:R113C;ENSP00000393648:R211C;ENSP00000324890:R197C;ENSP00000363602:R78C	ENSP00000324890:R197C	R	+	1	0	CD28	204307806	0.737000	0.28175	0.059000	0.19551	0.012000	0.07955	1.123000	0.31308	1.055000	0.40461	0.655000	0.94253	CGC		0.597	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		T	204599561	C	T	204599561	3	4	187	1	0	0	0	0	1	0	0	0	2993	652	23	2	603	2	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	12588110	204599561	38599812	15	13193											
SNRK	54861	broad.mit.edu	37	chr3	43381834	43381834	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcttctttagaagagAttgaaaatcatccttggctt	12	13	10	6	0	2	3	1	1	1	2	3	5	3	3	1	2	0	2	1	2	5	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:43381834A>C	ENST00000296088.7	+	5	1091	c.787A>C	c.(787-789)Att>Ctt	p.I263L	SNRK_ENST00000429705.2_Missense_Mutation_p.I263L|SNRK_ENST00000437827.1_Missense_Mutation_p.I57L|SNRK_ENST00000454177.1_Missense_Mutation_p.I263L	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTTAGAAGAGATTGAAAATCA	0.443																																						uc003cms.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(787-789)Att>Ctt		Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.							181	177	178					3																	43381834		1867	4105	5972	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43381834A>C	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.787A>C	3.37:g.43381834A>C	ENSP00000296088:p.Ile263Leu					SNRK_uc003cmt.4_Missense_Mutation_p.I263L|SNRK_uc010hik.3_Missense_Mutation_p.I263L|SNRK_uc011azr.2_Missense_Mutation_p.I57L	p.I263L	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	4	1119	+			263			Protein kinase.			Missense_Mutation	SNP	ENST00000296088.7	37	c.787A>C	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215981	0.79352	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	D;D;D;T	0.82081	-1.57;-1.57;-1.57;-0.68	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102521	0.64402	D	0.000003	T	0.77350	0.4117	N	0.25957	0.775	0.80722	D	1	B	0.34349	0.45	B	0.38056	0.264	T	0.79410	-0.1815	10	0.66056	D	0.02	.	15.5962	0.76583	1.0:0.0:0.0:0.0	.	263	Q9NRH2	SNRK_HUMAN	L	263;263;263;57	ENSP00000401246:I263L;ENSP00000411375:I263L;ENSP00000296088:I263L;ENSP00000409516:I57L	ENSP00000296088:I263L	I	+	1	0	SNRK	43356838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.157000	0.67596	0.533000	0.62120	ATT		0.443	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		C	43381834	A	C	43381834	3	2	187	1	0	0	0	0	1	0	0	0	14851	333	12	5	797	5	SNRK	3	43381834	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08		43381834	154640596	16	13194											
LETM1	3954	broad.mit.edu	37	chr4	1818642	1818642	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgatctcctgcaagtcCtaataaaattattttggttg	10	18	6	7	0	2	1	0	1	2	0	4	1	3	1	2	1	1	2	2	1	5	8			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1818642C>T	ENST00000302787.2	-	12	2040		c.e12-1			NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1						cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAAGTCCTAATAAAATT	0.408																																						uc003gdv.3																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.e12-1		Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.							78	77	77					4																	1818642		2203	4300	6503	SO:0001630	splice_region_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1818642C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1744-1G>A	4.37:g.1818642C>T							p.D582_splice	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		12	2041	-			582					B4DED2|Q9UF65	Splice_Site	SNP	ENST00000302787.2	37	c.1744_splice	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	17.67	3.445926	0.63178	.	.	ENSG00000168924	ENST00000302787	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3363	0.90288	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LETM1	1788440	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.787000	0.75099	2.505000	0.84491	0.655000	0.94253	.		0.408	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1		Intron	T	1818642	C	T	1818642	5	4	187	1	0	0	0	0	0	0	1	0	8734	695	24	3	488	3	LETM1	4	1818642	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08		1818642	189335634	17	13195											
WHSC1	7468	broad.mit.edu	37	chr4	1978378	1978378	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggcctaccacctgtcCtgcctgggccttggcaagcg	7	7	11	16	1	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	3	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1978378C>A	ENST00000382895.3	+	23	4229	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382888.3_Silent_p.S614S|WHSC1_ENST00000382891.5_Silent_p.S1266S|WHSC1_ENST00000382892.2_Silent_p.S1266S|WHSC1_ENST00000508803.1_Silent_p.S1266S|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1266					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACCACCTGTCCTGCCTGGGCC	0.657			T	IGH@	MM																																	uc003gdz.4				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3796-3798)tcC>tcA		Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.							66	45	52					4																	1978378		2202	4300	6502	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1978378C>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3798C>A	4.37:g.1978378C>A						WHSC1_uc003geb.4_Silent_p.S1266S|WHSC1_uc003gec.4_Silent_p.S1266S|WHSC1_uc003ged.4_Silent_p.S1266S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.S485S|WHSC1_uc011bvh.2_Silent_p.S327S|WHSC1_uc010icf.3_Silent_p.S614S	p.S1266S	NM_001042424	NP_579890	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	20	3974	+		all_epithelial(65;1.34e-05)	1266					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.3798C>A	CCDS33940.1																																																																																				0.657	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		A	1978378	C	A	1978378	2	1	187	1	0	0	0	0	0	0	0	1	17359	668	24	5		5	WHSC1	4	1978378	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	159736	1978378	189175898	18	13196											
FAM193A	8603	broad.mit.edu	37	chr4	2692666	2692667	+	Frame_Shift_Del	DEL	CA	CA	-																															cagtccagcaacagccagttCagagtgtcatccaagagacc																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:2692666_2692667delCA	ENST00000324666.5	+	13	2250_2251	c.1899_1900delCA	c.(1897-1902)ttcagafs	p.FR633fs	FAM193A_ENST00000505311.1_Frame_Shift_Del_p.FR633fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.FR633fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.FR655fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.FR633fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	633										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACAGCCAGTTCAGAGTGTCATC	0.53																																						uc010ick.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2497-2502)ttcagafs		Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.																																				SO:0001589	frameshift_variant	8603							g.chr4:2692666_2692667delCA	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1899_1900delCA	4.37:g.2692666_2692667delCA	ENSP00000324587:p.Phe633fs					FAM193A_uc003gfd.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.F633fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	p.F833fs	NM_003704	NP_003695	P78312	F193A_HUMAN			13	2500_2501	+			633					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.2499_2500delCA	CCDS58875.1																																																																																				0.53	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		-	2692667	CA	-	2692666	7	5	187	1	0	1	0	1	0	0	0	0	5524	825	29	0	1941	0	FAM193A	4	2692666	Frame_Shift_Del	DEL	CA	TCGA-27-1835-01A-01D-1494-08	714288	2692666	188461610	19	13197											
USP46	64854	broad.mit.edu	37	chr4	53468067	53468067	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcatacatgcggtcCaggttcactgcatcactgga	11	9	9	12	1	3	0	3	0	0	0	4	1	4	1	2	3	3	2	2	3	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:53468067C>G	ENST00000441222.3	-	7	1060	c.876G>C	c.(874-876)ctG>ctC	p.L292L	USP46_ENST00000451218.2_Silent_p.L265L|USP46_ENST00000508499.1_Silent_p.L285L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	292	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACATGCGGTCCAGGTTCACTG	0.537																																						uc003gzn.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(874-876)ctG>ctC		Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.							110	107	108					4																	53468067		2076	4216	6292	SO:0001819	synonymous_variant	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53468067C>G	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.876G>C	4.37:g.53468067C>G						USP46_uc003gzm.4_Silent_p.L285L|USP46_uc011bzr.2_Silent_p.L269L|USP46_uc011bzs.2_Silent_p.L176L	p.L292L	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		6	1061	-			292					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	ENST00000441222.3	37	c.876G>C	CCDS47053.1																																																																																				0.537	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		G	53468067	C	G	53468067	2	3	187	1	0	0	0	0	0	0	0	1	17074	581	21	5		5	USP46	4	53468067	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	50775401	53468067	137686209	20	13198											
C4orf40	401137	broad.mit.edu	37	chr4	71024299	71024299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcctaggggtttcccGtttgtccctccttcaaggtt	3	15	8	15	1	1	0	1	0	0	0	6	0	6	0	5	3	0	3	5	3	2	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:71024299G>A	ENST00000344526.5	+	3	519	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.P110P	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		110	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532																																						uc003hfa.4																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(328-330)ccG>ccA		Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.							197	199	198					4																	71024299		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024299G>A																												ENST00000344526.5:c.330G>A	4.37:g.71024299G>A						C4orf40_uc003hfb.4_Silent_p.P110P	p.P110P	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			3	403	+			110					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.330G>A	CCDS3535.1																																																																																				0.532	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			A	71024299	G	A	71024299	2	1	187	1	0	0	0	0	0	0	0	1	2269	1132	40	1		1	C4orf40	4	71024299	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	17556232	71024299	120129977	21	13199											
PRDM5	11107	broad.mit.edu	37	chr4	121720881	121720884	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															atttcttcatacattcttgaCaatcaaatatctcatgaatc																								rs34666716	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:121720881_121720884delCAAT	ENST00000264808.3	-	9	1202_1205	c.962_965delATTG	c.(961-966)gattgtfs	p.DC321fs	PRDM5_ENST00000515109.1_Frame_Shift_Del_p.DC290fs|PRDM5_ENST00000428209.2_Frame_Shift_Del_p.DC290fs	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	321					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTCTTGACAATCAAATATCTC	0.309																																						uc003idn.3																			0		p.D321Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(961-966)gattgtfs		Homo sapiens PR domain containing 5 (PRDM5), mRNA.																																				SO:0001589	frameshift_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121720881_121720884delCAAT	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.962_965delATTG	4.37:g.121720881_121720884delCAAT	ENSP00000264808:p.Asp321fs					PRDM5_uc003ido.3_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.3_Frame_Shift_Del_p.D290fs	p.D321fs	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			8	1212_1215	-			321					Q0VAI9|Q0VAJ0|Q6NXQ7	Frame_Shift_Del	DEL	ENST00000264808.3	37	c.962_965delATTG	CCDS3716.1																																																																																				0.309	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			-	121720884	CAAT	-	121720881	7	5	187	1	0	1	0	1	0	0	0	0	12460	478	17	0	959	0	PRDM5	4	121720881	Frame_Shift_Del	DEL	CAAT	TCGA-27-1835-01A-01D-1494-08	50696582	121720881	69433395	22	13200											
GPR98	84059	broad.mit.edu	37	chr5	89981612	89981612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttccaaattctccacGtcttgggcctaaggtagaaa	11	12	8	10	1	3	1	1	0	2	1	5	1	4	1	3	2	0	2	3	2	4	6	rs572910896		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:89981612G>A	ENST00000405460.2	+	29	6386	c.6290G>A	c.(6289-6291)cGt>cAt	p.R2097H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2097			R -> C (in dbSNP:rs16868974).		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCTCCACGTCTTGGGCCT	0.423																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6289-6291)cGt>cAt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							89	77	81					5																	89981612		1866	4115	5981	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981612G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6290G>A	5.37:g.89981612G>A	ENSP00000384582:p.Arg2097His					GPR98_uc003kjt.3_5'UTR	p.R2097H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6386	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2097		R -> C (in dbSNP:rs16868974).			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6290G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503515	0.85176	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29142	1.58	5.8	5.8	0.92144	.	0.145914	0.64402	D	0.000006	T	0.58032	0.2094	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.58792	-0.7574	10	0.87932	D	0	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	2097	Q8WXG9	GPR98_HUMAN	H	2097	ENSP00000384582:R2097H	ENSP00000296619:R2097H	R	+	2	0	GPR98	90017368	1.000000	0.71417	0.952000	0.39060	0.804000	0.45430	6.189000	0.72051	2.736000	0.93811	0.591000	0.81541	CGT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89981612	G	A	89981612	3	1	187	1	0	0	0	0	1	0	0	0	6721	1145	40	1	6404	1	GPR98	5	89981612	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		89981612	90933648	23	13201											
ADAMTS19	171019	broad.mit.edu	37	chr5	128957961	128957961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatggttccctccaagCtgccagggatgacatacact	9	10	10	12	0	0	2	0	2	0	0	2	3	2	3	3	2	3	2	3	2	2	2	rs571424490		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:128957961C>G	ENST00000274487.4	+	10	1817	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	558	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCCCTCCAAGCTGCCAGGGAT	0.468																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1672-1674)Ctg>Gtg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							161	137	145					5																	128957961		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957961C>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1672C>G	5.37:g.128957961C>G	ENSP00000274487:p.Leu558Val					ADAMTS19_uc010jdh.1_Non-coding_Transcript	p.L558V	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	9	1672	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	558			Disintegrin.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1672C>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084120	0.36758	.	.	ENSG00000145808	ENST00000274487	T	0.67698	-0.28	4.42	1.35	0.21983	Metallopeptidase, catalytic domain (1);	0.000000	0.53938	D	0.000044	T	0.62405	0.2425	M	0.86028	2.79	0.43673	D	0.996102	P	0.35174	0.488	B	0.31390	0.129	T	0.57447	-0.7810	9	.	.	.	.	6.562	0.22491	0.0:0.5393:0.2532:0.2074	.	558	Q8TE59	ATS19_HUMAN	V	558	ENSP00000274487:L558V	.	L	+	1	2	ADAMTS19	128985860	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	1.050000	0.30404	0.265000	0.21872	0.585000	0.79938	CTG		0.468	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		G	128957961	C	G	128957961	3	3	187	1	0	0	0	0	1	0	0	0	264	796	28	5	1710	5	ADAMTS19	5	128957961	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	38976349	128957961	51957299	24	13202											
GABRA6	2559	broad.mit.edu	37	chr5	161116169	161116169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatggaaccattttatacaCcatgaggtgaggtttctcca	12	12	9	8	0	1	2	0	2	1	0	2	4	1	3	3	3	2	1	3	3	4	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:161116169C>A	ENST00000274545.5	+	4	873	c.440C>A	c.(439-441)aCc>aAc	p.T147N	GABRA6_ENST00000523217.1_Missense_Mutation_p.T137N|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	147					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTTTATACACCATGAGGTGA	0.373										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(439-441)aCc>aAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						76	74	75					5																	161116169		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116169C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.440C>A	5.37:g.161116169C>A	ENSP00000274545:p.Thr147Asn	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.T147N	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	778	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	147					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.440C>A	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.773530|4.773530	0.90108|0.90108	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.79033	.|-1.23;-1.23;-1.23;-1.23	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82779|0.82779	0.5111|0.5111	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|P	.|0.41848	.|0.763	.|P	.|0.52758	.|0.708	T|T	0.83326|0.83326	-0.0015|-0.0015	5|10	.|0.66056	.|D	.|0.02	.|.	19.6287|19.6287	0.95691|0.95691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147	.|Q16445	.|GBRA6_HUMAN	T|N	87|147;137;94;42	.|ENSP00000274545:T147N;ENSP00000430527:T137N;ENSP00000430212:T94N;ENSP00000427989:T42N	.|ENSP00000274545:T147N	P|T	+|+	1|2	0|0	GABRA6|GABRA6	161048747|161048747	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	7.684000|7.684000	0.84104|0.84104	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.373	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			A	161116169	C	A	161116169	3	1	187	1	0	0	0	0	1	0	0	0	6165	507	18	5	454	5	GABRA6	5	161116169	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	32158208	161116169	19799091	25	13203											
DDX41	51428	broad.mit.edu	37	chr5	176943782	176943782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtagtcctcgtcgtcctCatcttccgcctcggagcggc	4	10	10	17	6	2	0	1	0	1	0	8	1	5	1	4	2	1	1	4	2	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:176943782C>G	ENST00000507955.1	-	2	605	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	28				PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGTCGTCCTCATCTTCCGCC	0.706																																						uc003mho.3																			0											c.(82-84)Gag>Cag		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.							39	34	36					5																	176943782		2202	4299	6501	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943782C>G	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.82G>C	5.37:g.176943782C>G	ENSP00000422753:p.Glu28Gln					DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	p.E28Q	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		1	103	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	28	PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).				B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.82G>C	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038439	0.55003	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28255	1.62;1.63	5.25	4.31	0.51392	.	0.903588	0.09394	N	0.808220	T	0.29190	0.0726	L	0.52011	1.625	0.41014	D	0.985028	B	0.31100	0.308	B	0.29524	0.103	T	0.09185	-1.0686	10	0.41790	T	0.15	-12.7406	9.9979	0.41911	0.1535:0.698:0.1485:0.0	.	28	Q9UJV9	DDX41_HUMAN	Q	46;28	ENSP00000330349:E46Q;ENSP00000422753:E28Q	ENSP00000330349:E46Q	E	-	1	0	DDX41	176876388	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	2.518000	0.45537	2.618000	0.88619	0.591000	0.81541	GAG		0.706	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		G	176943782	C	G	176943782	3	3	187	1	0	0	0	0	1	0	0	0	4361	835	29	5	1850	5	DDX41	5	176943782	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	15827613	176943782	3971478	26	13204											
GPR116	221395	broad.mit.edu	37	chr6	46826114	46826114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcagtgctgggatggCgaaagccagcagggccttgg	10	7	16	8	1	1	1	1	1	0	0	1	3	1	2	2	4	3	2	2	4	2	1	rs573068708	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:46826114C>T	ENST00000283296.7	-	17	3814	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	GPR116_ENST00000362015.4_Missense_Mutation_p.A1176T|GPR116_ENST00000456426.2_Missense_Mutation_p.A1034T|GPR116_ENST00000265417.7_Missense_Mutation_p.A1176T|GPR116_ENST00000545669.1_Missense_Mutation_p.A605T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1176					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGGGATGGCGAAAGCCAGC	0.547													C|||	3	0.000599042	0	0	5008	,	,		20896	0		0	False		,,,				2504	0.0031				NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3526-3528)Gcc>Acc		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							65	58	60					6																	46826114		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826114C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3526G>A	6.37:g.46826114C>T	ENSP00000283296:p.Ala1176Thr					GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	p.A1176T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		16	3815	-			1176					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3526G>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977168	0.34848	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.38	3.61	0.41365	GPCR, family 2-like (1);	0.482695	0.18919	N	0.127533	T	0.28764	0.0713	L	0.43923	1.385	0.29894	N	0.824939	P;P;P;D;P	0.56287	0.839;0.946;0.841;0.975;0.841	B;P;B;P;B	0.55011	0.124;0.523;0.207;0.766;0.207	T	0.07102	-1.0790	10	0.59425	D	0.04	-6.6867	11.8713	0.52520	0.0:0.8586:0.0:0.1414	.	605;731;1176;1034;1176	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	1176;1176;1176;1034;547;1176;605	ENSP00000283296:A1176T;ENSP00000354563:A1176T;ENSP00000412866:A1034T;ENSP00000265417:A1176T;ENSP00000441581:A605T	ENSP00000265417:A1176T	A	-	1	0	GPR116	46934073	0.106000	0.21978	0.012000	0.15200	0.506000	0.33950	0.672000	0.25187	0.768000	0.33290	0.650000	0.86243	GCC		0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		T	46826114	C	T	46826114	3	4	187	1	0	0	0	0	1	0	0	0	6633	768	27	1	534	1	GPR116	6	46826114	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		46826114	124288953	27	13205											
NT5E	4907	broad.mit.edu	37	chr6	86197137	86197137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attagggaaaacaattgtctAtctggatggctcctctcaat	12	13	8	8	0	3	0	1	0	3	0	5	2	4	2	1	3	1	1	1	3	6	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:86197137A>G	ENST00000257770.3	+	5	1083	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C	NT5E_ENST00000369651.3_Missense_Mutation_p.Y345C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	345					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ACAATTGTCTATCTGGATGGC	0.393																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1033-1035)tAt>tGt		Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	Pentoxifylline(DB00806)						153	148	150					6																	86197137		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197137A>G	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1034A>G	6.37:g.86197137A>G	ENSP00000257770:p.Tyr345Cys					NT5E_uc010kbr.3_Missense_Mutation_p.Y345C	p.Y345C	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	4	1590	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	345					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1034A>G	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.33|13.33	2.203920|2.203920	0.38905|0.38905	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	.|T;T	.|0.54279	.|0.58;0.58	5.38|5.38	4.14|4.14	0.48551|0.48551	.|5&apos (3);-Nucleotidase, C-terminal (3);	.|0.356685	.|0.33161	.|N	.|0.005210	T|T	0.65502|0.65502	0.2697|0.2697	M|M	0.86097|0.86097	2.795|2.795	0.48901|0.48901	D|D	0.99972|0.99972	.|D;D	.|0.71674	.|0.998;0.996	.|D;D	.|0.68192	.|0.956;0.935	T|T	0.70346|0.70346	-0.4897|-0.4897	5|10	.|0.54805	.|T	.|0.06	-9.9293|-9.9293	11.2181|11.2181	0.48838|0.48838	0.8628:0.0:0.0:0.1372|0.8628:0.0:0.0:0.1372	.|.	.|345;345	.|B3KQI8;P21589	.|.;5NTD_HUMAN	V|C	110;41|121;345;345	.|ENSP00000257770:Y345C;ENSP00000358665:Y345C	.|ENSP00000257770:Y345C	I|Y	+|+	1|2	0|0	NT5E|NT5E	86253856|86253856	0.997000|0.997000	0.39634|0.39634	0.993000|0.993000	0.49108|0.49108	0.417000|0.417000	0.31264|0.31264	2.876000|2.876000	0.48498|0.48498	2.048000|2.048000	0.60808|0.60808	0.455000|0.455000	0.32223|0.32223	ATC|TAT		0.393	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			G	86197137	A	G	86197137	3	3	187	1	0	0	0	0	1	0	0	0	10693	449	16	4	1052	4	NT5E	6	86197137	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	39371023	86197137	84917930	28	13206											
MDN1	23195	broad.mit.edu	37	chr6	90362720	90362720	+	Frame_Shift_Del	DEL	C	C	-																															agttttactacctggaagatCgtgtccatgaggaattgatg																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:90362720delC	ENST00000369393.3	-	94	15931	c.15816delG	c.(15814-15816)acgfs	p.T5272fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.T5272fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5272					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGGAAGATCGTGTCCATGA	0.338																																						uc003pnn.1																			0		p.T5272A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15814-15816)acgfs		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							240	218	225					6																	90362720		2203	4300	6503	SO:0001589	frameshift_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90362720delC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15816delG	6.37:g.90362720delC	ENSP00000358400:p.Thr5272fs						p.T5272fs	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	93	15932	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5272					O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	c.15816delG	CCDS5024.1																																																																																				0.338	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			-	90362720	C	-	90362720	7	5	187	1	0	1	0	1	0	0	0	0	9415	871	31	0	1010	0	MDN1	6	90362720	Frame_Shift_Del	DEL	C	TCGA-27-1835-01A-01D-1494-08	4165583	90362720	80752347	29	13207											
MAP3K7	6885	broad.mit.edu	37	chr6	91281453	91281453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctctcagattcactttctAtttgtttaatagcaacatct	10	18	3	10	0	4	1	2	0	3	1	6	1	5	1	1	0	2	2	1	0	4	7			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:91281453A>G	ENST00000369329.3	-	2	355	c.194T>C	c.(193-195)aTa>aCa	p.I65T	MAP3K7_ENST00000369325.3_Missense_Mutation_p.I65T|MAP3K7_ENST00000369327.3_Missense_Mutation_p.I65T|MAP3K7_ENST00000369332.3_Missense_Mutation_p.I65T	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	65	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCACTTTCTATTTGTTTAAT	0.338																																						uc003pnz.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(193-195)aTa>aCa		Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.							152	139	143					6																	91281453		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91281453A>G	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.194T>C	6.37:g.91281453A>G	ENSP00000358335:p.Ile65Thr					MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	p.I65T	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	499	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	65			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.194T>C	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396282	0.83011	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.039442	0.85682	D	0.000000	T	0.57666	0.2069	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.76494	0.997;0.989;0.999;0.997	D;D;D;D	0.70935	0.926;0.918;0.971;0.97	T	0.65734	-0.6096	10	0.56958	D	0.05	.	15.7394	0.77876	1.0:0.0:0.0:0.0	.	65;65;65;65	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	T	65	ENSP00000358338:I65T;ENSP00000358335:I65T;ENSP00000358331:I65T;ENSP00000358333:I65T	ENSP00000358331:I65T	I	-	2	0	MAP3K7	91338174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.038000	0.93771	2.122000	0.65172	0.455000	0.32223	ATA		0.338	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		G	91281453	A	G	91281453	3	3	187	1	0	0	0	0	1	0	0	0	9255	449	16	4	1690	4	MAP3K7	6	91281453	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	918733	91281453	79833614	30	13208											
SLC16A10	117247	broad.mit.edu	37	chr6	111498841	111498841	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataccacttgcacttttTggatactttgtgccttatgt	8	17	8	8	0	0	0	0	0	0	0	0	2	0	2	2	2	4	1	2	2	4	7			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:111498841T>C	ENST00000368851.5	+	3	1090	c.915T>C	c.(913-915)ttT>ttC	p.F305F	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	305					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTGCACTTTTTGGATACTTTG	0.363																																						uc003pus.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(913-915)ttT>ttC		Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.							85	82	83					6																	111498841		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498841T>C	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.915T>C	6.37:g.111498841T>C						SLC16A10_uc003pur.4_Silent_p.F305F|SLC16A10_uc003put.3_5'UTR	p.F305F	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	2	1090	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	305					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.915T>C	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.167|9.167	1.020063|1.020063	0.19433|0.19433	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000419619;ENST00000439288|ENST00000535637	.|.	.|.	.|.	5.41|5.41	-4.39|-4.39	0.03611|0.03611	.|.	.|.	.|.	.|.	.|.	T|T	0.57577|0.57577	0.2063|0.2063	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70342|0.70342	-0.4898|-0.4898	4|5	.|0.72032	.|D	.|0.01	.|.	13.0675|13.0675	0.59043|0.59043	0.0:0.4397:0.0:0.5603|0.0:0.4397:0.0:0.5603	.|.	.|.	.|.	.|.	S|R	191|305	.|.	.|ENSP00000439389:W305R	L|W	+|+	2|1	0|0	SLC16A10|SLC16A10	111605534|111605534	0.974000|0.974000	0.33945|0.33945	0.966000|0.966000	0.40874|0.40874	0.945000|0.945000	0.59286|0.59286	0.066000|0.066000	0.14489|0.14489	-0.693000|-0.693000	0.05121|0.05121	-0.371000|-0.371000	0.07208|0.07208	TTG|TGG		0.363	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			C	111498841	T	C	111498841	2	2	187	1	0	0	0	0	0	0	0	1	14403	1809	63	4		4	SLC16A10	6	111498841	Silent	SNP	T	TCGA-27-1835-01A-01D-1494-08	20217388	111498841	59616226	31	13209											
RSPH4A	345895	broad.mit.edu	37	chr6	116938051	116938051	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcctgtctctccgcggGagccctcttcctctccttct	1	14	7	19	2	4	0	0	0	4	0	9	1	7	1	5	1	2	1	5	1	0	2	rs555565982		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:116938051G>T	ENST00000229554.5	+	1	402	c.265G>T	c.(265-267)Gag>Tag	p.E89*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E89*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E89*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	89					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCCGCGGGAGCCCTCTTC	0.647									Kartagener syndrome																													uc003pxe.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(265-267)Gag>Tag		Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.							37	43	41					6																	116938051		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938051G>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.265G>T	6.37:g.116938051G>T	ENSP00000229554:p.Glu89*					RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89*	p.E89*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			0	410	+			89					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.265G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579075	0.86645	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	.	.	.	5.22	0.212	0.15240	.	1.197660	0.06137	N	0.671774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.8373	6.4319	0.21801	0.1692:0.3772:0.4536:0.0	.	.	.	.	X	89	.	ENSP00000229554:E89X	E	+	1	0	RSPH4A	117044744	0.068000	0.21057	0.013000	0.15412	0.028000	0.11728	0.314000	0.19432	0.118000	0.18165	0.650000	0.86243	GAG		0.647	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		T	116938051	G	T	116938051	4	4	187	1	0	0	0	0	0	1	0	0	13706	1175	41	5	267	5	RSPH4A	6	116938051	Nonsense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	5439210	116938051	54177016	32	13210											
RFX6	222546	broad.mit.edu	37	chr6	117244279	117244279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacttttagaccagcaaaCaaaatggaaggtcattaaag	17	11	7	6	0	1	1	1	0	0	1	1	2	1	2	1	2	3	1	1	2	8	5	rs144863251		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:117244279C>A	ENST00000332958.2	+	14	1463	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	483					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.Q483K(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCAAACAAAATGGAAG	0.363																																						uc003pxm.3																			1	Substitution - Missense(1)	p.Q483K(2)	skin(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1447-1449)Caa>Aaa		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							134	130	131					6																	117244279		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117244279C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1447C>A	6.37:g.117244279C>A	ENSP00000332208:p.Gln483Lys						p.Q483K	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			13	1510	+			483					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1447C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078474	0.76528	.	.	ENSG00000185002	ENST00000332958	T	0.56776	0.44	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.42245	1.32	0.80722	D	1	P	0.36144	0.539	B	0.31547	0.132	T	0.15093	-1.0449	10	0.15952	T	0.53	-14.8238	19.0347	0.92972	0.0:1.0:0.0:0.0	.	483	Q8HWS3	RFX6_HUMAN	K	483	ENSP00000332208:Q483K	ENSP00000332208:Q483K	Q	+	1	0	RFX6	117350972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.587000	0.87381	0.491000	0.48974	CAA		0.363	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		A	117244279	C	A	117244279	3	1	187	1	0	0	0	0	1	0	0	0	13267	479	17	5	1501	5	RFX6	6	117244279	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	306228	117244279	53870788	33	13211											
CNKSR3	154043	broad.mit.edu	37	chr6	154743668	154743668	+	Frame_Shift_Del	DEL	T	T	-																															gaggtggcttccaccgtaggTttttcaggggagcaggagta																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:154743668delT	ENST00000607772.1	-	9	1461	c.917delA	c.(916-918)aacfs	p.N306fs	CNKSR3_ENST00000479339.1_Frame_Shift_Del_p.N226fs|CNKSR3_ENST00000433165.2_Frame_Shift_Del_p.N131fs	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	306					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCACCGTAGGTTTTTCAGGGG	0.448																																						uc021zhc.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(916-918)aacfs		Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.							124	133	130					6																	154743668		2203	4300	6503	SO:0001589	frameshift_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154743668delT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.917delA	6.37:g.154743668delT	ENSP00000475915:p.Asn306fs					CNKSR3_uc003qpy.3_Frame_Shift_Del_p.N306fs	p.N306fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	8	1422	-		Ovarian(120;0.196)	306					Q5SGD5|Q96N65	Frame_Shift_Del	DEL	ENST00000607772.1	37	c.917delA	CCDS5246.1																																																																																				0.448	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		-	154743668	T	-	154743668	7	5	187	1	0	1	0	1	0	0	0	0	3608	1725	60	0	770	0	CNKSR3	6	154743668	Frame_Shift_Del	DEL	T	TCGA-27-1835-01A-01D-1494-08	37499389	154743668	16371399	34	13212											
DLL1	28514	broad.mit.edu	37	chr6	170599203	170599203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccgagagcaccgccaGggccagcgcgcaccgactgc	9	1	14	17	5	0	1	0	0	0	1	0	3	0	1	5	2	3	2	5	2	1	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:170599203G>A	ENST00000366756.3	-	1	358	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	9					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCACCGCCAGGGCCAGCGCG	0.761																																						uc003qxm.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(25-27)Ctg>Ttg		Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.							17	23	21					6																	170599203		2099	4158	6257	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170599203G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.25C>T	6.37:g.170599203G>A						DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	p.L9L	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	0	495	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	9					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.25C>T	CCDS5313.1																																																																																				0.761	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			A	170599203	G	A	170599203	2	1	187	1	0	0	0	0	0	0	0	1	4566	991	35	3		3	DLL1	6	170599203	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	15855535	170599203	515864	35	13213											
HOXA6	3203	broad.mit.edu	37	chr7	27186942	27186942	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgcgcaggagttcaTccgctgcatccaagggtaaa	10	8	10	13	3	1	0	1	0	0	0	3	1	3	1	3	2	2	5	3	2	4	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:27186942T>G	ENST00000222728.3	-	1	451	c.427A>C	c.(427-429)Atg>Ctg	p.M143L	HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000524304.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	143					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CAGGAGTTCATCCGCTGCATC	0.562																																						uc003syo.2																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(427-429)Atg>Ctg		Homo sapiens homeobox A6 (HOXA6), mRNA.							81	78	79					7																	27186942		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27186942T>G		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.427A>C	7.37:g.27186942T>G	ENSP00000222728:p.Met143Leu					HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Missense_Mutation_p.S9A	p.M143L	NM_024014	NP_076919	P31267	HXA6_HUMAN			0	452	-			143					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.427A>C	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	t	14.92	2.680052	0.47886	.	.	ENSG00000106006	ENST00000222728	D	0.95307	-3.67	5.07	5.07	0.68467	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89795	0.6818	L	0.35341	1.055	0.42896	D	0.994219	B	0.18461	0.028	B	0.14023	0.01	D	0.86754	0.1962	10	0.66056	D	0.02	.	9.3977	0.38412	0.0:0.0798:0.0:0.9202	.	143	P31267	HXA6_HUMAN	L	143	ENSP00000222728:M143L	ENSP00000222728:M143L	M	-	1	0	HOXA6	27153467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.883000	0.69721	1.903000	0.55091	0.529000	0.55759	ATG		0.562	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			G	27186942	T	G	27186942	3	3	187	1	0	0	0	0	1	0	0	0	7296	1435	50	5	282	5	HOXA6	7	27186942	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08		27186942	131951721	36	13214											
TXNDC3	51314	broad.mit.edu	37	chr7	37903981	37903981	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtattgctattatcaaaccGgatgctgtgattagtaaaaa	15	13	8	5	1	1	1	1	1	0	0	1	2	1	2	1	1	3	4	1	1	8	6	rs199713986		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:37903981G>C	ENST00000199447.4	+	9	858	c.486G>C	c.(484-486)ccG>ccC	p.P162P	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.P162P	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	162	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTATCAAACCGGATGCTGTGA	0.284																																						uc003tfn.3																			0											c.(484-486)ccG>ccC		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							25	27	26					7																	37903981		2191	4287	6478	SO:0001819	synonymous_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903981G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.486G>C	7.37:g.37903981G>C							p.P162P	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			8	858	+			162			NDK 1.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.486G>C	CCDS5452.1																																																																																				0.284	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		C	37903981	G	C	37903981	2	2	187	1	0	0	0	0	0	0	0	1	16795	1103	39	5		5	TXNDC3	7	37903981	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	10717039	37903981	121234682	37	13215											
ABCB1	5243	broad.mit.edu	37	chr7	87179256	87179256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacattttcacggccatagcGaatgttttcagctatcgtgg	9	13	10	9	3	2	0	2	0	0	0	3	2	2	0	1	2	2	2	1	2	3	6	rs142600685		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:87179256G>A	ENST00000265724.3	-	14	1882	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R425C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	489	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGGCCATAGCGAATGTTTTCA	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		20930	0		0	False		,,,				2504	0					uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1465-1467)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	236	218	224		1465	5.3	1	7	dbSNP_134	224	0,8600		0,0,4300	yes	missense	ABCB1	NM_000927.4	180	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	489/1281	87179256	6,13000	2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179256G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1465C>T	7.37:g.87179256G>A	ENSP00000265724:p.Arg489Cys					ABCB1_uc011khc.2_Missense_Mutation_p.R425C	p.R489C	NM_000927	NP_000918	P08183	MDR1_HUMAN			13	1958	-	Esophageal squamous(14;0.00164)		489			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1465C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858540	0.71834	0.001362	0.0	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90955	-2.76;-2.76	6.16	5.29	0.74685	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.048148	0.85682	D	0.000000	D	0.93074	0.7795	M	0.64260	1.97	0.80722	D	1	B;P	0.49862	0.256;0.929	B;P	0.56216	0.116;0.794	D	0.93216	0.6604	10	0.54805	T	0.06	-11.5298	15.7393	0.77876	0.0651:0.0:0.9349:0.0	.	425;489	B5AK60;P08183	.;MDR1_HUMAN	C	270;489;425	ENSP00000265724:R489C;ENSP00000444095:R425C	ENSP00000265724:R489C	R	-	1	0	ABCB1	87017192	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.779000	0.47734	1.622000	0.50330	0.650000	0.86243	CGC		0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87179256	G	A	87179256	3	1	187	1	0	0	0	0	1	0	0	0	40	1058	37	2	2441	2	ABCB1	7	87179256	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	49275275	87179256	71959407	38	13216											
MCM7	4176	broad.mit.edu	37	chr7	99693696	99693696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcagccagcaccagggcCccaccctctaaggtcagttc	8	7	10	16	0	3	0	2	0	1	0	4	0	3	0	5	3	2	2	5	3	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:99693696C>T	ENST00000303887.5	-	11	1941	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Silent_p.G256G	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	432	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCAGGGCCCCACCCTCTA	0.612																																						uc003usw.1																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1294-1296)ggG>ggA		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						59	55	57					7																	99693696		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693696C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1296G>A	7.37:g.99693696C>T						MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	p.G432G	NM_005916	NP_005907	P33993	MCM7_HUMAN			10	1806	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		432			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.1296G>A	CCDS5683.1																																																																																				0.612	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			T	99693696	C	T	99693696	2	4	187	1	0	0	0	0	0	0	0	1	9392	610	22	3		3	MCM7	7	99693696	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	12514440	99693696	59444967	39	13217											
MUC17	140453	broad.mit.edu	37	chr7	100681846	100681846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcctacaactgctgaCgatactagcatgccaacctc	11	10	5	15	1	2	1	1	1	1	0	4	2	2	1	3	0	7	2	3	0	5	3	rs138267850		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:100681846C>T	ENST00000306151.4	+	3	7213	c.7149C>T	c.(7147-7149)gaC>gaT	p.D2383D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2383	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGCTGACGATACTAGCA	0.498													N|||	1	0.000199681	0	0	5008	,	,		28825	0.001		0	False		,,,				2504	0					uc003uxp.1																			0		p.A2382V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7147-7149)gaC>gaT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							296	288	291					7																	100681846		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681846C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7149C>T	7.37:g.100681846C>T						MUC17_uc010lho.1_Non-coding_Transcript	p.D2383D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	7202	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2383			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7149C>T	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100681846	C	T	100681846	2	4	187	1	0	0	0	0	0	0	0	1	9974	535	19	1		1	MUC17	7	100681846	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	988150	100681846	58456817	40	13218											
PIK3CG	5294	broad.mit.edu	37	chr7	106508257	106508257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctggagaccagcgtggCggcggacttctaccaccggc	7	5	15	14	5	1	1	0	0	1	1	1	3	1	2	3	5	3	1	3	5	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:106508257C>T	ENST00000359195.3	+	2	561	c.251C>T	c.(250-252)gCg>gTg	p.A84V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A84V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A84V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	84	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCAGCGTGGCGGCGGACTTC	0.637																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(250-252)gCg>gTg		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							24	27	26					7																	106508257		2200	4296	6496	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508257C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.251C>T	7.37:g.106508257C>T	ENSP00000352121:p.Ala84Val					PIK3CG_uc003vdu.3_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A84V	p.A84V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	336	+			84					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.251C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.305692	0.00240	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	2.63	0.31362	.	0.361256	0.35320	N	0.003297	T	0.38480	0.1042	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.18276	T	0.48	-8.052	5.7313	0.18040	0.386:0.4717:0.0:0.1423	.	84	P48736	PK3CG_HUMAN	V	84	ENSP00000392258:A84V;ENSP00000419260:A84V;ENSP00000352121:A84V	ENSP00000352121:A84V	A	+	2	0	PIK3CG	106295493	0.424000	0.25490	0.012000	0.15200	0.088000	0.18126	1.084000	0.30828	0.754000	0.32968	0.557000	0.71058	GCG		0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106508257	C	T	106508257	3	4	187	1	0	0	0	0	1	0	0	0	11916	768	27	1	253	1	PIK3CG	7	106508257	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	5826411	106508257	52630406	41	13219											
EBF2	64641	broad.mit.edu	37	chr8	25766052	25766052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattctgattgcacttgaGgaaaaattttaaaaagaatc	18	12	6	5	0	1	3	0	2	1	1	2	4	1	4	0	1	1	1	0	1	7	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr8:25766052G>T	ENST00000520164.1	-	7	1108	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	EBF2_ENST00000408929.3_Missense_Mutation_p.L43I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	191					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(571-573)Ctc>Atc		Homo sapiens early B-cell factor 2 (EBF2), mRNA.							66	65	65					8																	25766052		1818	4100	5918	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25766052G>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.571C>A	8.37:g.25766052G>T	ENSP00000430241:p.Leu191Ile					DOCK5_uc003xek.3_Intron	p.L191I	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	6	836	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	191					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.571C>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656011	0.88056	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.54479	0.58;0.57	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000008	T	0.64853	0.2636	M	0.75615	2.305	0.80722	D	1	B	0.33777	0.425	B	0.41813	0.367	T	0.66184	-0.5987	10	0.87932	D	0	-1.0565	20.3473	0.98799	0.0:0.0:1.0:0.0	.	191	Q9HAK2	COE2_HUMAN	I	191;43	ENSP00000430241:L191I;ENSP00000386178:L43I	ENSP00000386178:L43I	L	-	1	0	EBF2	25821969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.884000	0.98904	0.655000	0.94253	CTC		0.363	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		T	25766052	G	T	25766052	3	4	187	1	0	0	0	0	1	0	0	0	4881	1000	35	5	1196	5	EBF2	8	25766052	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		25766052	120597970	42	13220											
TMC1	117531	broad.mit.edu	37	chr9	75441788	75441789	+	Frame_Shift_Ins	INS	-	-	A																															tttttaattcccccagtggcINSaaaaatagaatgtttgaagt																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:75441788_75441789insA	ENST00000297784.5	+	21	2547_2548	c.2007_2008insA	c.(2008-2010)aaafs	p.K670fs	TMC1_ENST00000396237.3_Frame_Shift_Ins_p.K670fs|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.K670fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	670					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCCCAGTGGCAAAAATAGAAT	0.411																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2005-2010)ggcaaafs		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.																																				SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75441788_75441789insA	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2012dupA	9.37:g.75441793_75441793dupA	ENSP00000297784:p.Lys670fs					TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs	p.G669fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			20	2547_2548	+			669					A8MVZ2|B1AM91	Frame_Shift_Ins	INS	ENST00000297784.5	37	c.2007_2008insA	CCDS6643.1																																																																																				0.411	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			A	75441789	-	A	75441788	7	5	187	1	0	1	1	0	0	0	0	0	15981	697	25	0	2073	0	TMC1	9	75441788	Frame_Shift_Ins	INS	-	TCGA-27-1835-01A-01D-1494-08		75441788	65771643	43	13221											
ACTL7B	10880	broad.mit.edu	37	chr9	111618206	111618206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggggctgttccttgtcGccatctgcctcccttgctcc	2	13	10	16	1	1	0	0	0	1	0	5	0	4	0	5	2	2	4	5	2	0	3	rs139165156		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:111618206G>A	ENST00000374667.3	-	1	1033	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	2						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTCCTTGTCGCCATCTGCCT	0.667																																						uc004bdi.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(4-6)gCg>gTg		Homo sapiens actin-like 7B (ACTL7B), mRNA.		G	VAL/ALA	0,4406		0,0,2203	51	51	51		5	3.1	0.9	9	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	no	missense	ACTL7B	NM_006686.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	2/416	111618206	2,13004	2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618206G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.5C>T	9.37:g.111618206G>A	ENSP00000363799:p.Ala2Val						p.A2V	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			0	70	-			2					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.5C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854006	0.32791	0.0	2.33E-4	ENSG00000148156	ENST00000374667	D	0.95238	-3.65	3.99	3.1	0.35709	.	3.053800	0.01834	U	0.034870	D	0.86297	0.5899	N	0.08118	0	0.28052	N	0.933304	P	0.39181	0.663	B	0.21360	0.034	T	0.81239	-0.1023	10	0.87932	D	0	.	8.9636	0.35863	0.0:0.0:0.7784:0.2216	.	2	Q9Y614	ACL7B_HUMAN	V	2	ENSP00000363799:A2V	ENSP00000363799:A2V	A	-	2	0	ACTL7B	110658027	0.083000	0.21467	0.888000	0.34837	0.160000	0.22226	0.798000	0.27014	0.915000	0.36847	-0.218000	0.12543	GCG		0.667	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		A	111618206	G	A	111618206	3	1	187	1	0	0	0	0	1	0	0	0	201	1087	38	1	1246	1	ACTL7B	9	111618206	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	36176418	111618206	29595225	44	13222											
COL5A1	1289	broad.mit.edu	37	chr9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaattcgctttcagtacaCggaaggagacggcgagggtg	10	7	15	9	5	1	1	1	0	0	1	2	4	1	2	0	4	1	3	0	4	3	3	rs148548209		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(790-792)aCg>aTg		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	121	120		791	3.9	1	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620520C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.791C>T	9.37:g.137620520C>T	ENSP00000360882:p.Thr264Met						p.T264M	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	5	1173	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.791C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG		0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137620520	C	T	137620520	3	4	187	1	0	0	0	0	1	0	0	0	3696	536	19	1	813	1	COL5A1	9	137620520	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	26002314	137620520	3592911	45	13223											
CALML5	51806	broad.mit.edu	37	chr10	5540984	5540984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcgagcatcctcgCgaactcctcgtagttcaccc	6	9	9	17	4	1	0	1	0	0	0	6	2	4	0	4	1	2	3	4	1	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:5540984C>T	ENST00000380332.3	-	1	549	c.418G>A	c.(418-420)Gcg>Acg	p.A140T		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	140	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCATCCTCGCGAACTCCTCG	0.701																																					GBM(149;1055 3356 43077)	uc001iic.2																			0				biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						c.(418-420)Gcg>Acg		Homo sapiens calmodulin-like 5 (CALML5), mRNA.							21	20	20					10																	5540984		2201	4295	6496	SO:0001583	missense	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5540984C>T	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"EF-hand domain containing"	18180	protein-coding gene	gene with protein product	"calmodulin-like skin protein"	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.418G>A	10.37:g.5540984C>T	ENSP00000369689:p.Ala140Thr						p.A140T	NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN			0	550	-			140			EF-hand 4.		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	ENST00000380332.3	37	c.418G>A	CCDS7068.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643175	0.47153	.	.	ENSG00000178372	ENST00000380332	T	0.72051	-0.62	4.68	-9.36	0.00629	EF-hand-like domain (1);	1.306410	0.05435	N	0.546657	T	0.36826	0.0981	N	0.04787	-0.16	0.09310	N	1	B	0.31383	0.321	B	0.22601	0.04	T	0.42258	-0.9462	10	0.87932	D	0	-11.4078	0.7424	0.00976	0.204:0.2201:0.1858:0.39	.	140	Q9NZT1	CALL5_HUMAN	T	140	ENSP00000369689:A140T	ENSP00000369689:A140T	A	-	1	0	CALML5	5530984	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.910000	0.04054	-2.600000	0.00451	-0.274000	0.10170	GCG		0.701	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422		T	5540984	C	T	5540984	3	4	187	1	0	0	0	0	1	0	0	0	2589	768	27	1	26	1	CALML5	10	5540984	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		5540984	129993763	46	13224											
SLK	9748	broad.mit.edu	37	chr10	105752828	105752828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacttacatgataataagAtcatccacagagatctgaag	17	10	6	8	0	2	4	1	2	1	2	3	5	3	4	1	0	2	0	1	0	5	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:105752828A>G	ENST00000369755.3	+	4	996	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	SLK_ENST00000335753.4_Missense_Mutation_p.I151V	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAATAAGATCATCCACAG	0.333																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(451-453)Atc>Gtc		Homo sapiens STE20-like kinase (SLK), mRNA.							95	97	96					10																	105752828		2203	4299	6502	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105752828A>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.451A>G	10.37:g.105752828A>G	ENSP00000358770:p.Ile151Val					SLK_uc001kxp.1_Missense_Mutation_p.I151V	p.I151V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	3	485	+		Colorectal(252;0.178)	151			Protein kinase.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.451A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702669	0.48307	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69175	-0.38;-0.38	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	N	0.17564	0.495	0.80722	D	1	D;P	0.63880	0.993;0.924	D;D	0.79108	0.992;0.96	T	0.66333	-0.5950	10	0.22706	T	0.39	.	15.2367	0.73436	1.0:0.0:0.0:0.0	.	151;151	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	V	151	ENSP00000336824:I151V;ENSP00000358770:I151V	ENSP00000336824:I151V	I	+	1	0	SLK	105742818	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	6.206000	0.72154	2.018000	0.59344	0.528000	0.53228	ATC		0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		G	105752828	A	G	105752828	3	3	187	1	0	0	0	0	1	0	0	0	14748	333	12	4	465	4	SLK	10	105752828	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	100211844	105752828	29781919	47	13225											
IFITM1	8519	broad.mit.edu	37	chr11	314342	314342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcttcatagcattcGcctactccgtgaaggtgcgt	6	12	12	11	3	2	1	1	1	1	0	4	1	3	1	2	2	3	2	2	2	3	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:314342G>A	ENST00000408968.3	+	1	490	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	IFITM1_ENST00000328221.5_Missense_Mutation_p.A58T|IFITM1_ENST00000528780.1_Missense_Mutation_p.A58T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	58					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGCATTCGCCTACTCCGT	0.612																																						uc001loy.4																			0				large_intestine(1)|lung(3)	4						c.(172-174)Gcc>Acc		Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.							122	128	126					11																	314342		2083	4207	6290	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314342G>A	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.172G>A	11.37:g.314342G>A	ENSP00000386187:p.Ala58Thr						p.A58T	NM_003641	NP_003632	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	0	352	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	58					Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.172G>A	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768055	0.31320	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.86164	-2.08;-2.08;-2.08	3.14	2.2	0.27929	.	0.672153	0.12768	U	0.440743	T	0.82204	0.4986	L	0.45470	1.425	0.29615	N	0.84665	B	0.29571	0.249	B	0.34301	0.179	T	0.73607	-0.3929	10	0.33940	T	0.23	.	7.5701	0.27902	0.0:0.0:0.7452:0.2548	.	58	P13164	IFM1_HUMAN	T	58;58;58;61	ENSP00000437057:A58T;ENSP00000330825:A58T;ENSP00000386187:A58T	ENSP00000330825:A58T	A	+	1	0	IFITM1	304342	0.998000	0.40836	0.987000	0.45799	0.270000	0.26580	3.341000	0.52151	0.641000	0.30601	0.205000	0.17691	GCC		0.612	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		A	314342	G	A	314342	3	1	187	1	0	0	0	0	1	0	0	0	7526	1087	38	1	174	1	IFITM1	11	314342	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		314342	134692174	48	13226											
SYT9	143425	broad.mit.edu	37	chr11	7334771	7334771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataatgatgacgggagaCggagtaacagcaaggcttgt	13	8	15	5	2	0	3	0	2	0	1	0	6	0	5	0	4	2	3	0	4	3	3	rs188796269	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:7334771C>T	ENST00000318881.6	+	3	880	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SYT9_ENST00000396716.2_Missense_Mutation_p.R183W	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	215					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R215W(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGACGGGAGACGGAGTAACAG	0.398													C|||	3	0.000599042	0	0	5008	,	,		19696	0.003		0	False		,,,				2504	0					uc001mfe.3																			1	Substitution - Missense(1)	p.R215W(2)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(643-645)Cgg>Tgg		Homo sapiens synaptotagmin IX (SYT9), mRNA.							129	132	131					11																	7334771		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334771C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.643C>T	11.37:g.7334771C>T	ENSP00000324419:p.Arg215Trp					SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	p.R215W	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	880	+			215						Missense_Mutation	SNP	ENST00000318881.6	37	c.643C>T	CCDS7778.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.34	3.364978	0.61513	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.08008	3.14;3.14	5.85	4.73	0.59995	.	0.137512	0.51477	D	0.000085	T	0.15349	0.0370	L	0.54323	1.7	0.35292	D	0.782231	P	0.52463	0.953	P	0.50934	0.654	T	0.12400	-1.0549	10	0.72032	D	0.01	.	11.6229	0.51128	0.8441:0.1559:0.0:0.0	.	215	Q86SS6	SYT9_HUMAN	W	183;215	ENSP00000379944:R183W;ENSP00000324419:R215W	ENSP00000324419:R215W	R	+	1	2	SYT9	7291347	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	2.566000	0.45948	1.155000	0.42497	-0.281000	0.10026	CGG		0.398	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		T	7334771	C	T	7334771	3	4	187	1	0	0	0	0	1	0	0	0	15478	527	19	1	653	1	SYT9	11	7334771	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	7020429	7334771	127671745	49	13227											
OR5J2	282775	broad.mit.edu	37	chr11	55944236	55944236	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatctgggcatgatcctctTaatccaaatcacctccaaac	13	10	5	13	0	3	1	1	1	2	0	6	2	6	1	4	1	1	1	4	1	4	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:55944236T>A	ENST00000312298.1	+	1	143	c.143T>A	c.(142-144)tTa>tAa	p.L48*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATGATCCTCTTAATCCAAATC	0.428																																						uc010rjb.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(142-144)tTa>tAa		Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.							223	202	209					11																	55944236		2201	4296	6497	SO:0001587	stop_gained	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944236T>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.143T>A	11.37:g.55944236T>A	ENSP00000310788:p.Leu48*						p.L48*	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			0	143	+	Esophageal squamous(21;0.00693)		48					Q6IEU5	Nonsense_Mutation	SNP	ENST00000312298.1	37	c.143T>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	T	9.394	1.076333	0.20227	.	.	ENSG00000174957	ENST00000312298	.	.	.	4.57	3.4	0.38934	.	0.328711	0.21855	N	0.068110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1558	0.20335	0.1453:0.0827:0.0:0.772	.	.	.	.	X	48	.	ENSP00000310788:L48X	L	+	2	0	OR5J2	55700812	0.003000	0.15002	0.027000	0.17364	0.029000	0.11900	1.458000	0.35223	0.698000	0.31739	0.475000	0.43553	TTA		0.428	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		A	55944236	T	A	55944236	4	1	187	1	0	0	0	0	0	1	0	0	11165	1764	61	5	145	5	OR5J2	11	55944236	Nonsense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	48609465	55944236	79062280	50	13228											
POLA2	23649	broad.mit.edu	37	chr11	65048610	65048610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaggaatattctctgtttCctggacaggtgagattggag	10	14	12	5	0	1	1	0	1	1	1	3	5	2	4	1	4	0	1	1	4	3	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:65048610C>A	ENST00000265465.3	+	8	1423	c.892C>A	c.(892-894)Cct>Act	p.P298T	POLA2_ENST00000541089.1_Missense_Mutation_p.P90T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	298					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTCTCTGTTTCCTGGACAGGT	0.512																																						uc001odj.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(892-894)Cct>Act		Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	Dacarbazine(DB00851)						130	127	128					11																	65048610		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65048610C>A	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.892C>A	11.37:g.65048610C>A	ENSP00000265465:p.Pro298Thr					POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.3_5'UTR	p.P298T	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			7	1224	+			298					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.892C>A	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682776	0.88542	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T	0.57752	0.38	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.92833	3.35	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.65443	0.935;0.807	D	0.83923	0.0302	10	0.87932	D	0	-16.7685	16.5719	0.84615	0.0:1.0:0.0:0.0	.	90;298	B4DNB4;Q14181	.;DPOA2_HUMAN	T	298;90	ENSP00000265465:P298T	ENSP00000265465:P298T	P	+	1	0	POLA2	64805186	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.003000	0.76310	2.522000	0.85027	0.555000	0.69702	CCT		0.512	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		A	65048610	C	A	65048610	3	1	187	1	0	0	0	0	1	0	0	0	12188	855	30	5	922	5	POLA2	11	65048610	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	9104374	65048610	69957906	51	13229											
OR10G7	390265	broad.mit.edu	37	chr11	123909464	123909464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccgcttggggacaccaagGtcatcagcattttgggcacc	8	9	12	12	1	2	0	2	0	0	0	2	1	2	1	3	4	2	3	3	4	1	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:123909464G>A	ENST00000330487.5	-	1	253	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACACCAAGGTCATCAGCAT	0.532																																						uc001pzq.1																			0		p.T82T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(244-246)aCc>aTc		Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.							161	173	169					11																	123909464		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909464G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.245C>T	11.37:g.123909464G>A	ENSP00000329689:p.Thr82Ile						p.T82I	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	245	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	82					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.245C>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733805	0.15574	.	.	ENSG00000182634	ENST00000330487	T	0.00406	7.55	3.39	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.443529	0.18924	N	0.127416	T	0.00241	0.0007	N	0.16656	0.425	0.09310	N	1	P	0.38370	0.628	B	0.41088	0.347	T	0.50866	-0.8777	10	0.87932	D	0	.	3.3872	0.07276	0.1049:0.167:0.5575:0.1707	.	82	Q8NGN6	O10G7_HUMAN	I	82	ENSP00000329689:T82I	ENSP00000329689:T82I	T	-	2	0	OR10G7	123414674	0.000000	0.05858	0.980000	0.43619	0.625000	0.37756	-0.831000	0.04405	1.910000	0.55303	0.455000	0.32223	ACC		0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909464	G	A	123909464	3	1	187	1	0	0	0	0	1	0	0	0	10902	1261	44	3	694	3	OR10G7	11	123909464	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	58860854	123909464	11097052	52	13230											
IQSEC3	440073	broad.mit.edu	37	chr12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-																															cccccaaaacagaggaggaaGaggaggaggaggagacggcg																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:248252_248254delGAG	ENST00000538872.1	+	4	1841_1843	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_ENST00000326261.4_In_Frame_Del_p.E579del|IQSEC3_ENST00000382841.2_In_Frame_Del_p.E276del|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	579	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.7																																						uc001qhw.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1723-1725)gagdel		Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.			,	23,3845		3,17,1914					,	-1.9	0.3			5	55,7605		9,37,3784	no	coding,coding	IQSEC3	NM_015232.1,NM_001170738.1	,	12,54,5698	A1A1,A1R,RR		0.718,0.5946,0.6766	,	,		78,11450				SO:0001651	inframe_deletion	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248252_248254delGAG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1723_1725delGAG	12.37:g.248261_248263delGAG	ENSP00000437554:p.Glu579del					IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|LOC574538_uc001qhv.1_Intron	p.E579del	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	3	1723_1725	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		579			Poly-Glu.		A6NIF2|A6NKV9|Q8TB43	In_Frame_Del	DEL	ENST00000538872.1	37	c.1723_1725delGAG	CCDS53728.1																																																																																				0.7	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		-	248254	GAG	-	248252	7	5	187	1	0	1	0	1	0	0	0	0	7819	943	33	0	1737	0	IQSEC3	12	248252	In_Frame_Del	DEL	GAG	TCGA-27-1835-01A-01D-1494-08		248252	133603643	53	13231											
C3AR1	719	broad.mit.edu	37	chr12	8211864	8211864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtggtagctcagactcGtagaaggaattgctagaagc	11	10	12	8	1	1	3	1	0	0	3	2	4	1	4	1	2	3	4	1	2	6	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:8211864G>A	ENST00000307637.4	-	2	1121	c.918C>T	c.(916-918)taC>taT	p.Y306Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	306					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCTCAGACTCGTAGAAGGAAT	0.438																																						uc001qtv.1																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(916-918)taC>taT		Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.							123	125	125					12																	8211864		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211864G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.918C>T	12.37:g.8211864G>A						C3AR1_uc021quj.1_Silent_p.Y306Y	p.Y306Y	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	1	1010	-			306					O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.918C>T	CCDS8588.1																																																																																				0.438	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			A	8211864	G	A	8211864	2	1	187	1	0	0	0	0	0	0	0	1	2205	1140	40	1		1	C3AR1	12	8211864	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	7963612	8211864	125640031	54	13232											
C12orf51	283450	broad.mit.edu	37	chr12	112622744	112622744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggcttgctgcctccgatGctgagcacggtggggtccga	4	9	16	12	4	0	1	0	1	0	0	3	3	2	1	3	4	4	4	3	4	0	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:112622744G>A	ENST00000430131.2	-	60	9905	c.8760C>T	c.(8758-8760)agC>agT	p.S2920S	HECTD4_ENST00000377560.5_Silent_p.S3170S|HECTD4_ENST00000550722.1_Silent_p.S3196S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2920					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCCTCCGATGCTGAGCACGG	0.627																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(9622-9624)agC>agT		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							37	41	39					12																	112622744		2198	4291	6489	SO:0001819	synonymous_variant	283450							g.chr12:112622744G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8760C>T	12.37:g.112622744G>A							p.S3208S	NM_001109662	NP_001103132					60	10020	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.9624C>T																																																																																					0.627	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		A	112622744	G	A	112622744	2	1	187	1	0	0	0	0	0	0	0	1	1696	1310	46	3		3	C12orf51	12	112622744	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	104410880	112622744	21229151	55	13233											
DDX54	79039	broad.mit.edu	37	chr12	113600992	113600992	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagaattcctggtcccGctgccgggcctcctccctcc	4	10	10	17	2	0	1	0	0	0	1	5	2	5	1	7	2	1	2	7	2	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:113600992G>T	ENST00000306014.5	-	16	2053	c.2026C>A	c.(2026-2028)Cgg>Agg	p.R676R	DDX54_ENST00000314045.7_Silent_p.R676R|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	676					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGGTCCCGCTGCCGGGCC	0.667																																						uc001tuq.4																			0		p.R676L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2026-2028)Cgg>Agg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.							52	59	57					12																	113600992		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113600992G>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2026C>A	12.37:g.113600992G>T						DDX54_uc001tup.3_Silent_p.R676R	p.R676R	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN			15	2054	-			676					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.2026C>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296850	0.23650	.	.	ENSG00000123064	ENST00000546898	.	.	.	5.24	4.33	0.51752	.	.	.	.	.	T	0.40423	0.1116	.	.	.	0.22940	N	0.99854	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	11.1197	0.48281	0.0:0.1391:0.7166:0.1443	.	.	.	.	E	78	.	.	A	-	2	0	DDX54	112085375	0.946000	0.32159	0.542000	0.28115	0.963000	0.63663	3.813000	0.55636	1.173000	0.42796	0.643000	0.83706	GCG		0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		T	113600992	G	T	113600992	2	4	187	1	0	0	0	0	0	0	0	1	4372	1086	38	5		5	DDX54	12	113600992	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	978248	113600992	20250903	56	13234											
LTBP2	4053	broad.mit.edu	37	chr14	74991895	74991895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgtatctctgcaatcCcctgttcaggcattggtggg	5	14	10	12	0	2	0	1	0	1	0	5	0	4	0	3	3	1	4	3	3	2	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991895C>G	ENST00000261978.4	-	15	2848	c.2462G>C	c.(2461-2463)gGg>gCg	p.G821A	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612																																						uc001xqa.3																			0		p.G821R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2461-2463)gGg>gCg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							264	213	230					14																	74991895		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74991895C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2462G>C	14.37:g.74991895C>G	ENSP00000261978:p.Gly821Ala						p.G821A	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	14	2849	-			821					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2462G>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205103	0.06180	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77358	-1.09;-1.09	4.9	-0.851	0.10716	.	0.541544	0.15301	N	0.269617	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	B	0.24483	0.104	B	0.22386	0.039	T	0.40646	-0.9552	10	0.06891	T	0.86	.	3.8913	0.09120	0.238:0.3037:0.0:0.4583	.	821	Q14767	LTBP2_HUMAN	A	821	ENSP00000261978:G821A;ENSP00000451477:G821A	ENSP00000261978:G821A	G	-	2	0	LTBP2	74061648	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	-0.749000	0.04813	-0.374000	0.07967	-0.136000	0.14681	GGG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		G	74991895	C	G	74991895	3	3	187	1	0	0	0	0	1	0	0	0	9074	623	22	5	3091	5	LTBP2	14	74991895	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		74991895	32357645	57	13235			1	36		2	2	33	C		8.062541e-05
LTBP2	4053	broad.mit.edu	37	chr14	74991927	74991927	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attggtggggttgtggcattCcctgtggaggagagagggga	7	10	20	4	0	0	1	0	0	0	1	1	5	1	4	1	8	0	2	1	8	0	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991927C>G	ENST00000261978.4	-	15	2816	c.2430G>C	c.(2428-2430)ggG>ggC	p.G810G	LTBP2_ENST00000556690.1_Splice_Site_p.G810G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	810					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGTGGCATTCCCTGTGGAGG	0.597																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e15-1		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							189	157	168					14																	74991927		2203	4300	6503	SO:0001630	splice_region_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74991927C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2429-1G>C	14.37:g.74991927C>G							p.G810_splice	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	15	2816	-			810					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.2429_splice	CCDS9831.1																																																																																				0.597	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	Silent	G	74991927	C	G	74991927	5	3	187	1	0	0	0	0	0	0	1	0	9074	869	30	5	3123	5	LTBP2	14	74991927	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08	32	74991927	32357613	58	13236			1	36		2	2	33	C		8.062541e-05
STON2	85439	broad.mit.edu	37	chr14	81744671	81744671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaagcactgaaagggttGataggggagggctgtacatc	14	7	15	5	0	0	3	0	2	0	1	1	4	0	4	0	4	2	4	0	4	5	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:81744671G>C	ENST00000267540.2	-	4	1184	c.984C>G	c.(982-984)atC>atG	p.I328M	STON2_ENST00000555447.1_Missense_Mutation_p.I328M|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	328					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAAGGGTTGATAGGGGAGG	0.512																																						uc010tvu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(982-984)atC>atG		Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.							86	91	89					14																	81744671		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744671G>C	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.984C>G	14.37:g.81744671G>C	ENSP00000267540:p.Ile328Met					STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.2_Missense_Mutation_p.I125M	p.I328M	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	3	1182	-			328					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.984C>G	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426965	0.43122	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55588	0.51;0.51	5.97	2.75	0.32379	Stonin-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	L	0.59436	1.845	0.33886	D	0.636775	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68116	-0.5494	10	0.37606	T	0.19	-30.1189	7.3675	0.26781	0.2047:0.0:0.6689:0.1265	.	328;328	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	328;340;328	ENSP00000450857:I328M;ENSP00000267540:I328M	ENSP00000267540:I328M	I	-	3	3	STON2	80814424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.213000	0.42844	0.868000	0.35678	0.655000	0.94253	ATC		0.512	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		C	81744671	G	C	81744671	3	2	187	1	0	0	0	0	1	0	0	0	15317	1280	45	5	1739	5	STON2	14	81744671	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	6752744	81744671	25604869	59	13237											
C14orf109	64112	broad.mit.edu	37	chr14	93651787	93651787	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattcagagctgagtgacTctttaacgcttgccgtggga	9	13	11	8	2	2	3	1	2	1	1	2	4	2	4	1	1	3	2	1	1	2	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:93651787T>A	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000415050.2_Missense_Mutation_p.S19T|RP11-371E8.4_ENST00000557574.1_Intron|TMEM251_ENST00000283534.4_Intron|MOAP1_ENST00000298894.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		GCTGAGTGACTCTTTAACGCT	0.502																																						uc001ybk.4																			0				kidney(1)	1								Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.							121	123	123					14																	93651787		1885	4123	6008	SO:0001631	upstream_gene_variant	26175					integral to membrane		g.chr14:93651787T>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93651787T>A	Exception_encountered					MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.S19T|C14orf109_uc021sax.1_5'Flank		NM_015676	NP_056491	Q8N6I4	CN109_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)			+		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)						B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37		CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704560	0.68615	.	.	ENSG00000153485	ENST00000415050	.	.	.	4.1	2.9	0.33743	.	.	.	.	.	T	0.25457	0.0619	N	0.14661	0.345	0.24941	N	0.991853	B	0.20988	0.05	B	0.17098	0.017	T	0.21143	-1.0254	8	0.87932	D	0	-1.3356	7.2291	0.26033	0.0:0.0:0.2275:0.7725	.	13	Q8N6I4	CN109_HUMAN	T	19	.	ENSP00000388431:S19T	S	+	1	0	C14orf109	92721540	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	1.690000	0.37711	0.598000	0.29829	0.378000	0.23410	TCT		0.502	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			A	93651787	T	A	93651787	1	1	187	0	1	0	0	0	0	0	0	0	1739	1551	54	5		5	C14orf109	14	93651787	5'Flank	SNP	T	TCGA-27-1835-01A-01D-1494-08	11907116	93651787	13697753	60	13238											
RLTPR	146206	broad.mit.edu	37	chr16	67683828	67683828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaacgacgtggcccaggCgcagcgcagccgcccggaac	9	2	14	16	6	0	1	0	1	0	0	0	3	0	2	3	3	4	2	3	3	2	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr16:67683828C>T	ENST00000334583.6	+	21	2367	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A644V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	680					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGGCCCAGGCGCAGCGCAGC	0.647																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2038-2040)gCg>gTg		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							34	43	40					16																	67683828		2150	4252	6402	SO:0001583	missense	146206							g.chr16:67683828C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2039C>T	16.37:g.67683828C>T	ENSP00000334958:p.Ala680Val					RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.2_Missense_Mutation_p.A644V	p.A680V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	20	2159	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	680					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2039C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522946	0.85600	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.54071	0.59;0.59	5.11	5.11	0.69529	.	0.135737	0.49916	D	0.000126	T	0.71854	0.3389	M	0.75777	2.31	0.44531	D	0.997487	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.943	T	0.75224	-0.3393	10	0.66056	D	0.02	-10.9424	15.2694	0.73689	0.0:1.0:0.0:0.0	.	644;680	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	680;644	ENSP00000334958:A680V;ENSP00000441481:A644V	ENSP00000334958:A680V	A	+	2	0	RLTPR	66241329	0.997000	0.39634	0.962000	0.40283	0.749000	0.42624	3.607000	0.54102	2.392000	0.81423	0.561000	0.74099	GCG		0.647	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67683828	C	T	67683828	3	4	187	1	0	0	0	0	1	0	0	0	13394	768	27	1	2121	1	RLTPR	16	67683828	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		67683828	22670925	61	13239											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACCACCACACTATGTCGA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CX952222	TP53	X		c.(646-648)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							123	111	115					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578203C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	p.V216M	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	840	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578203	C	T	7578203	3	4	187	1	0	0	0	0	1	0	0	0	16378	478	17	3	648	3	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		7578203	73617007	62	13240											
PLXDC1	57125	broad.mit.edu	37	chr17	37265501	37265501	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgactggggcactcacCgaagcctgccggtgggtgtt	5	8	16	12	3	1	0	1	0	0	0	1	2	1	0	3	5	2	2	3	5	1	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:37265501C>T	ENST00000315392.4	-	3	610	c.399G>A	c.(397-399)tcG>tcA	p.S133S	PLXDC1_ENST00000444911.2_Splice_Site_p.S93S|PLXDC1_ENST00000539608.1_Splice_Site_p.S60S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Splice_Site_p.S133S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	133					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGCACTCACCGAAGCCTGCC	0.657																																						uc002hrg.2																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.e3+1		Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.							88	79	82					17																	37265501		2203	4300	6503	SO:0001630	splice_region_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37265501C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.399+1G>A	17.37:g.37265501C>T						PLXDC1_uc002hrh.2_Splice_Site|PLXDC1_uc002hri.2_Splice_Site|PLXDC1_uc002hrj.1_Splice_Site|PLXDC1_uc002hrk.1_Splice_Site	p.S133_splice	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			3	611	-			133					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.399_splice	CCDS11333.1																																																																																				0.657	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	Silent	T	37265501	C	T	37265501	5	4	187	1	0	0	0	0	0	0	1	0	12117	666	23	2	1151	2	PLXDC1	17	37265501	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08	29687298	37265501	43929709	63	13241											
SCN4A	6329	broad.mit.edu	37	chr17	62036660	62036660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcacagacagtccctgtaCgttggccaggcctagctcta	9	9	10	13	1	1	1	0	0	1	1	2	1	2	1	3	2	3	4	3	2	4	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:62036660C>T	ENST00000435607.1	-	12	2060	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I	SCN4A_ENST00000578147.1_Missense_Mutation_p.V662I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	662					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTCCCTGTACGTTGGCCAGG	0.592																																						uc002jds.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1984-1986)Gta>Ata		Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	Lamotrigine(DB00555)						89	89	89					17																	62036660		2080	4223	6303	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036660C>T	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1984G>A	17.37:g.62036660C>T	ENSP00000396320:p.Val662Ile						p.V662I	NM_000334	NP_000325	P35499	SCN4A_HUMAN			11	2061	-			662					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1984G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547899	0.86022	.	.	ENSG00000007314	ENST00000435607	D	0.98512	-4.97	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	L	0.41492	1.28	0.49213	D	0.999763	P	0.51537	0.946	P	0.50490	0.642	D	0.96890	0.9652	10	0.39692	T	0.17	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	662	P35499	SCN4A_HUMAN	I	662	ENSP00000396320:V662I	ENSP00000396320:V662I	V	-	1	0	SCN4A	59390392	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	7.571000	0.82399	2.573000	0.86826	0.556000	0.70494	GTA		0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62036660	C	T	62036660	3	4	187	1	0	0	0	0	1	0	0	0	13920	536	19	1	3578	1	SCN4A	17	62036660	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	24771159	62036660	19158550	64	13242											
PALM	5064	broad.mit.edu	37	chr19	746653	746653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtggtcatcgaagacgcgGctgagcccaaggagcctgca	9	6	15	11	3	1	2	1	1	0	1	2	4	1	3	2	4	3	2	2	4	2	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:746653G>A	ENST00000338448.5	+	9	1049	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.A291T	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	335					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CGAAGACGCGGCTGAGCCCAA	0.647																																						uc002lpm.1																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1003-1005)Gct>Act		Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.							31	26	28					19																	746653		2201	4300	6501	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746653G>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1003G>A	19.37:g.746653G>A	ENSP00000341911:p.Ala335Thr					PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	p.A335T	NM_002579	NP_002570	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1197	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	335					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.1003G>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	G	9.767	1.171546	0.21704	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.18657	2.2;2.2	3.6	2.42	0.29668	.	1.519180	0.03675	N	0.244662	T	0.28532	0.0706	M	0.72479	2.2	0.09310	N	1	B;P	0.45634	0.259;0.863	B;B	0.40982	0.108;0.345	T	0.35076	-0.9803	10	0.51188	T	0.08	-11.5054	9.071	0.36493	0.0:0.1566:0.6835:0.1599	.	291;335	O75781-2;O75781	.;PALM_HUMAN	T	335;291;200	ENSP00000341911:A335T;ENSP00000264560:A291T	ENSP00000264560:A291T	A	+	1	0	PALM	697653	0.004000	0.15560	0.069000	0.20011	0.644000	0.38419	0.994000	0.29693	1.936000	0.56123	0.462000	0.41574	GCT		0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		A	746653	G	A	746653	3	1	187	1	0	0	0	0	1	0	0	0	11408	1203	42	3	1037	3	PALM	19	746653	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		746653	58382330	65	13243											
SAFB2	9667	broad.mit.edu	37	chr19	5587954	5587954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcgtgcctggtgctcctCtagccgctggttgtgctctc	1	12	14	14	3	2	0	0	0	2	0	4	0	3	0	3	3	4	4	3	3	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:5587954C>T	ENST00000252542.4	-	19	2827	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	855	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGGTGCTCCTCTAGCCGCTGG	0.652																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.3																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2563-2565)Gag>Aag		Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.							18	20	19					19																	5587954		2201	4296	6497	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5587954C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2563G>A	19.37:g.5587954C>T	ENSP00000252542:p.Glu855Lys						p.E855K	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	18	2775	-			855			Gly-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.2563G>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	c	14.28	2.486908	0.44249	.	.	ENSG00000130254	ENST00000252542	T	0.10005	2.92	4.31	3.22	0.36961	.	0.496886	0.18271	N	0.146317	T	0.10208	0.0250	L	0.55481	1.735	0.25868	N	0.983745	P	0.37781	0.608	B	0.28784	0.094	T	0.09773	-1.0659	10	0.42905	T	0.14	-9.9643	12.0824	0.53677	0.0:0.8261:0.1739:0.0	.	855	Q14151	SAFB2_HUMAN	K	855	ENSP00000252542:E855K	ENSP00000252542:E855K	E	-	1	0	SAFB2	5538954	0.783000	0.28701	0.192000	0.23308	0.407000	0.30961	2.901000	0.48695	0.728000	0.32382	0.655000	0.94253	GAG		0.652	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		T	5587954	C	T	5587954	3	4	187	1	0	0	0	0	1	0	0	0	13807	922	32	3	310	3	SAFB2	19	5587954	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	4841301	5587954	53541029	66	13244											
ANGPT4	51378	broad.mit.edu	37	chr20	860425	860425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccgctgaaaattcaCggtgccattctcacggcgct	8	10	9	14	4	2	1	2	1	1	0	4	1	3	1	3	2	1	3	3	2	2	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1018-1020)Gtg>Atg		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							82	75	78					20																	860425		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:860425C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1018G>A	20.37:g.860425C>T	ENSP00000371347:p.Val340Met					ANGPT4_uc010zpn.2_Missense_Mutation_p.V334M	p.V340M	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			5	1121	-			340			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1018G>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121658	0.20877	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35236	1.82;1.32	5.44	2.45	0.29901	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.355854	0.25458	N	0.030524	T	0.49372	0.1553	H	0.97707	4.06	0.09310	N	0.999996	D;P	0.55385	0.971;0.945	B;B	0.41860	0.368;0.131	T	0.57957	-0.7721	10	0.87932	D	0	.	5.0409	0.14458	0.1203:0.6288:0.1165:0.1344	.	340;340	B4E3J9;Q9Y264	.;ANGP4_HUMAN	M	340	ENSP00000371347:V340M;ENSP00000439605:V340M	ENSP00000371347:V340M	V	-	1	0	ANGPT4	808425	0.123000	0.22298	0.001000	0.08648	0.205000	0.24178	0.891000	0.28309	0.411000	0.25702	0.655000	0.94253	GTG		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		T	860425	C	T	860425	3	4	187	1	0	0	0	0	1	0	0	0	612	536	19	1	509	1	ANGPT4	20	860425	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		860425	62165095	67	13245											
PTPRT	11122	broad.mit.edu	37	chr20	41306569	41306569	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacccccctcacctggtcGtgtgaggagcactcggatct	6	9	11	15	3	2	1	1	1	1	0	4	3	2	3	4	3	2	2	4	3	1	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:41306569G>A	ENST00000373187.1	-	7	1089	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R364*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R364*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACCTGGTCGTGTGAGGAGC	0.562																																						uc002xkg.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1090-1092)Cga>Tga		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							104	105	105					20																	41306569		1956	4157	6113	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306569G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1090C>T	20.37:g.41306569G>A	ENSP00000362283:p.Arg364*					PTPRT_uc010ggj.3_Nonsense_Mutation_p.R364*	p.R364*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1274	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	364			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.1090C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	39	7.670585	0.98425	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.42	2.03	0.26663	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9061	0.63836	0.0:0.0:0.5718:0.4282	.	.	.	.	X	364	.	ENSP00000348408:R364X	R	-	1	2	PTPRT	40739983	1.000000	0.71417	0.968000	0.41197	0.771000	0.43674	3.574000	0.53863	0.672000	0.31204	0.655000	0.94253	CGA		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41306569	G	A	41306569	4	1	187	1	0	0	0	0	0	1	0	0	12812	1153	40	1	3396	1	PTPRT	20	41306569	Nonsense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	40446144	41306569	21718951	68	13246											
MATN4	8785	broad.mit.edu	37	chr20	43927042	43927042	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccgtagcgacccagAgggaactcggtgcgcacgcg	7	4	17	13	7	0	1	0	0	0	1	1	3	0	2	2	3	4	2	2	3	2	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43927042A>T	ENST00000372754.1	-	7	1325	c.1317T>A	c.(1315-1317)ccT>ccA	p.P439P	MATN4_ENST00000372756.1_Silent_p.P398P|MATN4_ENST00000342716.4_Silent_p.P398P|MATN4_ENST00000360607.6_Silent_p.P357P|MATN4_ENST00000353917.5_Silent_p.P316P|MATN4_ENST00000372751.4_Silent_p.P249P|MATN4_ENST00000537548.1_Silent_p.P398P			O95460	MATN4_HUMAN	matrilin 4	439	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGCGACCCAGAGGGAACTCGG	0.662																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1192-1194)ccT>ccA		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							51	46	48					20																	43927042		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43927042A>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1317T>A	20.37:g.43927042A>T						MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	p.P398P	NM_003833	NP_003824	O95460	MATN4_HUMAN			6	1381	-		Myeloproliferative disorder(115;0.0122)	439			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1194T>A																																																																																					0.662	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			T	43927042	A	T	43927042	2	4	187	1	0	0	0	0	0	0	0	1	9336	291	11	5		5	MATN4	20	43927042	Silent	SNP	A	TCGA-27-1835-01A-01D-1494-08	2620473	43927042	19098478	69	13247											
MATN4	8785	broad.mit.edu	37	chr20	43933002	43933002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgctgcacccccaccGcgtaaatttcaatgccgcgg	7	6	10	18	7	1	0	1	0	0	0	1	0	1	0	5	1	2	3	5	1	3	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43933002G>A	ENST00000372754.1	-	2	517	c.509C>T	c.(508-510)gCg>gTg	p.A170V	MATN4_ENST00000372756.1_Missense_Mutation_p.A170V|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.A170V|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.A170V|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.A170V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.A170V			O95460	MATN4_HUMAN	matrilin 4	170	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACCCCCACCGCGTAAATTTC	0.706																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(508-510)gCg>gTg		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							12	14	13					20																	43933002		2179	4238	6417	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933002G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.509C>T	20.37:g.43933002G>A	ENSP00000361840:p.Ala170Val					MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	p.A170V	NM_003833	NP_003824	O95460	MATN4_HUMAN			2	696	-		Myeloproliferative disorder(115;0.0122)	170			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.447212	0.96205	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.77	4.77	0.60923	.	0.000000	0.43919	D	0.000519	D	0.91975	0.7458	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	P;D;D	0.91635	0.812;0.999;0.95	D	0.92923	0.6357	10	0.87932	D	0	.	17.0104	0.86405	0.0:0.0:1.0:0.0	.	170;170;170	A6NNA4;O95460-4;O95460-2	.;.;.	V	170	ENSP00000361840:A170V;ENSP00000361842:A170V;ENSP00000243983:A170V;ENSP00000353819:A170V;ENSP00000343164:A170V;ENSP00000440328:A170V	ENSP00000255132:A170V	A	-	2	0	MATN4	43366416	1.000000	0.71417	0.665000	0.29768	0.996000	0.88848	9.633000	0.98432	2.501000	0.84356	0.456000	0.33151	GCG		0.706	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			A	43933002	G	A	43933002	3	1	187	1	0	0	0	0	1	0	0	0	9336	1087	38	1	1268	1	MATN4	20	43933002	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	5960	43933002	19092518	70	13248											
MMP9	4318	broad.mit.edu	37	chr20	44641083	44641083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatacagtttgttcctcGtggcggcgcatgagttcggc	6	11	14	10	4	0	1	0	1	0	0	3	2	1	2	1	4	1	4	1	4	1	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:44641083G>A	ENST00000372330.3	+	8	1211	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	398					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TTTGTTCCTCGTGGCGGCGCA	0.662																																						uc002xqz.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1192-1194)Gtg>Atg		Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						53	52	52					20																	44641083		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641083G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1192G>A	20.37:g.44641083G>A	ENSP00000361405:p.Val398Met						p.V398M	NM_004994	NP_004985	P14780	MMP9_HUMAN			7	1211	+		Myeloproliferative disorder(115;0.0122)	398					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1192G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791981	0.70452	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.39056	1.1	4.99	4.99	0.66335	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.058087	0.64402	D	0.000002	T	0.76118	0.3943	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84392	0.0555	10	0.87932	D	0	.	17.4497	0.87588	0.0:0.0:1.0:0.0	.	398	P14780	MMP9_HUMAN	M	398;43	ENSP00000361405:V398M	ENSP00000361405:V398M	V	+	1	0	MMP9	44074490	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	9.519000	0.98025	2.606000	0.88127	0.561000	0.74099	GTG		0.662	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			A	44641083	G	A	44641083	3	1	187	1	0	0	0	0	1	0	0	0	9669	1145	40	1	1222	1	MMP9	20	44641083	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	708081	44641083	18384437	71	13249											
MIOX	55586	broad.mit.edu	37	chr22	50928230	50928230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggacgtggacaagctgcGgccctactaccaggggctca	8	5	14	14	3	1	0	1	0	0	0	1	2	1	2	3	5	4	2	3	5	3	2	rs140377157	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr22:50928230G>A	ENST00000216075.6	+	10	877	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	MIOX_ENST00000395732.3_Silent_p.A263A|MIOX_ENST00000395733.3_Silent_p.A224A	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	268					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAAGCTGCGGCCCTACTAC	0.662																																						uc003bll.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13						c.(802-804)cGg>cAg		Homo sapiens myo-inositol oxygenase (MIOX), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74	66	69		803	4.2	1	22	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	missense	MIOX	NM_017584.5	43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	268/286	50928230	4,13002	2203	4300	6503	SO:0001583	missense	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50928230G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.803G>A	22.37:g.50928230G>A	ENSP00000216075:p.Arg268Gln					MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A	p.R268Q	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	917	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	268					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.803G>A	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351419	0.61183	2.27E-4	3.49E-4	ENSG00000100253	ENST00000216075;ENST00000451761	.	.	.	5.22	4.2	0.49525	.	0.062093	0.64402	D	0.000007	T	0.46776	0.1410	L	0.39397	1.21	0.80722	D	1	B	0.14438	0.01	B	0.08055	0.003	T	0.46830	-0.9163	9	0.51188	T	0.08	-23.3516	10.8144	0.46567	0.0925:0.0:0.9075:0.0	.	268	Q9UGB7	MIOX_HUMAN	Q	268;248	.	ENSP00000216075:R268Q	R	+	2	0	MIOX	49275096	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.388000	0.44398	2.413000	0.81919	0.655000	0.94253	CGG		0.662	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		A	50928230	G	A	50928230	3	1	187	1	0	0	0	0	1	0	0	0	9590	1116	39	2	841	2	MIOX	22	50928230	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		50928230	376336	72	13250											
EIF1AX	1964	broad.mit.edu	37	chrX	20148634	20148634	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggtacatctacttacGtcatcaatatcttcatcatc	13	13	3	12	1	6	0	4	0	2	0	7	0	6	0	0	1	3	1	0	1	6	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:20148634G>A	ENST00000379607.5	-	6	632	c.429C>T	c.(427-429)gaC>gaT	p.D143D	EIF1AX_ENST00000379593.1_Splice_Site_p.D115D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	143					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCTACTTACGTCATCAATAT	0.338																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6+1		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							157	119	132					X																	20148634		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148634G>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.429+1C>T	X.37:g.20148634G>A							p.D143_splice	NM_001412	NP_001403	P47813	IF1AX_HUMAN			6	637	-			143					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Silent	SNP	ENST00000379607.5	37	c.429_splice	CCDS14196.1																																																																																				0.338	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Silent	A	20148634	G	A	20148634	5	1	187	1	0	0	0	0	0	0	1	0	4992	1159	40	1	13	1	EIF1AX	23	20148634	Splice_Site	SNP	G	TCGA-27-1835-01A-01D-1494-08		20148634	135121926	73	13251											
ZNF674	641339	broad.mit.edu	37	chrX	46359485	46359485	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattctctgatgtttGatgagagttgacttcctact	9	17	9	6	0	1	5	0	5	1	1	3	6	2	5	1	0	1	3	1	0	3	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:46359485G>T	ENST00000523374.1	-	6	1749	c.1539C>A	c.(1537-1539)atC>atA	p.I513I	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Silent_p.I507I	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TCTGATGTTTGATGAGAGTTG	0.398																																						uc004dgr.3																			0				breast(2)	2						c.(1537-1539)atC>atA		Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.							71	67	68					X																	46359485		2176	4279	6455	SO:0001819	synonymous_variant	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46359485G>T	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"Zinc fingers, C2H2-type", "-"	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1539C>A	X.37:g.46359485G>T						ZNF674_uc011mlg.2_Silent_p.I507I|ZNF674_uc022bvl.1_Silent_p.I508I	p.I513I	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN			5	1766	-			513					B4DHE2|E9PHQ4	Silent	SNP	ENST00000523374.1	37	c.1539C>A	CCDS48099.1																																																																																				0.398	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891		T	46359485	G	T	46359485	2	4	187	1	0	0	0	0	0	0	0	1	18078	1280	45	5		5	ZNF674	23	46359485	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	26210851	46359485	108911075	74	13252											
ACRC	93953	broad.mit.edu	37	chrX	70830591	70830591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactgctggcttatgcAgcactggtgagatgtggtac	10	11	13	7	0	0	2	0	2	0	1	0	3	0	2	0	3	5	5	0	3	4	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:70830591A>G	ENST00000373695.1	+	10	2209	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	ACRC_ENST00000373696.3_Missense_Mutation_p.S558G|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	558	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGGCTTATGCAGCACTGGTGA	0.493																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1672-1674)Agc>Ggc		Homo sapiens acidic repeat containing (ACRC), mRNA.							120	84	96					X																	70830591		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830591A>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1672A>G	X.37:g.70830591A>G	ENSP00000362799:p.Ser558Gly					BCYRN1_uc011mpt.1_Intron	p.S558G	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			10	2173	+	Renal(35;0.156)		558					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1672A>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555446	0.45487	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.45276	0.9;0.9	5.1	2.67	0.31697	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.37865	0.1019	L	0.42245	1.32	0.09310	N	0.999999	P	0.50819	0.939	P	0.50825	0.651	T	0.16837	-1.0389	9	0.27082	T	0.32	.	3.2389	0.06774	0.5305:0.2453:0.2242:0.0	.	558	Q96QF7	ACRC_HUMAN	G	558	ENSP00000362800:S558G;ENSP00000362799:S558G	ENSP00000362799:S558G	S	+	1	0	ACRC	70747316	0.159000	0.22864	0.040000	0.18447	0.069000	0.16628	1.864000	0.39469	1.691000	0.51100	0.371000	0.22339	AGC		0.493	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			G	70830591	A	G	70830591	3	3	187	1	0	0	0	0	1	0	0	0	171	188	7	4	1710	4	ACRC	23	70830591	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	24471106	70830591	84439969	75	13253											
RPS4X	6191	broad.mit.edu	37	chrX	71492579	71492579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagcaatggtgaggCggataccctttcctcgggga	7	11	12	11	2	2	1	1	1	1	0	5	3	3	3	2	5	2	1	2	5	2	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:71492579C>T	ENST00000316084.6	-	7	838	c.734G>A	c.(733-735)cGc>cAc	p.R245H	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	245					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					AATGGTGAGGCGGATACCCTT	0.488																																						uc004ear.3																			0				NS(1)|large_intestine(1)	2						c.(733-735)cGc>cAc		Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.							51	42	45					X																	71492579		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71492579C>T		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"S ribosomal proteins"	10424	protein-coding gene	gene with protein product	"40S ribosomal protein S4, X isoform", "ribosomal protein S4X isoform", "single-copy abundant mRNA", "cell cycle gene 2"	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.734G>A	X.37:g.71492579C>T	ENSP00000362744:p.Arg245His						p.R245H	NM_001007	NP_000998	P62701	RS4X_HUMAN			6	830	-	Renal(35;0.156)		245					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.734G>A	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204327	0.58234	.	.	ENSG00000198034	ENST00000316084	T	0.27557	1.66	4.52	3.63	0.41609	.	0.000000	0.64402	D	0.000001	T	0.24774	0.0601	L	0.45352	1.415	0.80722	D	1	B	0.14012	0.009	B	0.06405	0.002	T	0.11397	-1.0589	10	0.66056	D	0.02	.	8.9506	0.35788	0.0:0.886:0.0:0.114	.	245	P62701	RS4X_HUMAN	H	245	ENSP00000362744:R245H	ENSP00000362744:R245H	R	-	2	0	RPS4X	71409304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.858000	0.69532	1.970000	0.57323	0.594000	0.82650	CGC		0.488	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007		T	71492579	C	T	71492579	3	4	187	1	0	0	0	0	1	0	0	0	13645	768	27	1	61	1	RPS4X	23	71492579	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	661988	71492579	83777981	76	13254											
COL4A6	1288	broad.mit.edu	37	chrX	107407829	107407829	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcacatgctctcaacttaCctcttggccctgccttcccc	6	11	5	19	0	2	0	1	0	2	0	4	0	3	0	5	1	5	2	5	1	2	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:107407829C>A	ENST00000372216.4	-	40	4173		c.e40+1		COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000394872.2_Splice_Site|COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000538570.1_Intron	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTCAACTTACCTCTTGGCCC	0.592									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.e40+1		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							177	167	170					X																	107407829		2203	4300	6503	SO:0001630	splice_region_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107407829C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4072+1G>T	X.37:g.107407829C>A						COL4A6_uc004env.4_Splice_Site_p.G1357_splice|COL4A6_uc011msn.2_Splice_Site_p.G1333_splice|COL4A6_uc010npk.3_Intron	p.G1358_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			40	4175	-			1358			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37	c.4072_splice	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603301	0.66445	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8165	0.88635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A6	107294485	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.136000	0.64783	2.335000	0.79485	0.600000	0.82982	.		0.592	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Intron	A	107407829	C	A	107407829	5	1	187	1	0	0	0	0	0	0	1	0	3695	521	18	5	1026	5	COL4A6	23	107407829	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08	35915250	107407829	47862731	77	13255											
MAGEC2	51438	broad.mit.edu	37	chrX	141291591	141291591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcaggaccaccaagaatCagagaagaggatgtggagaa	16	5	12	8	0	2	4	2	0	0	4	3	8	3	6	3	3	0	0	3	3	4	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:141291591C>T	ENST00000247452.3	-	3	530	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	61					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAGAATCAGAGAAGAGG	0.532										HNSCC(46;0.14)																												uc022cfj.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(181-183)ctG>ctA		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							77	77	77					X																	141291591		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291591C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.183G>A	X.37:g.141291591C>T		HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Silent_p.L61L	p.L61L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	183	-	Acute lymphoblastic leukemia(192;6.56e-05)		61					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.183G>A	CCDS14678.1																																																																																				0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		T	141291591	C	T	141291591	2	4	187	1	0	0	0	0	0	0	0	1	9181	813	29	3		3	MAGEC2	23	141291591	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	33883762	141291591	13978969	78	13256											
PTCH2	8643	broad.mit.edu	37	chr1	45288988	45288988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggccccatcggtcaCgggggcaaatgtgtgctcaa	9	7	15	10	2	2	1	2	0	0	1	3	2	2	1	2	5	1	2	2	5	2	0	rs142187073	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:45288988C>T	ENST00000372192.3	-	20	3314	c.3184G>A	c.(3184-3186)Gtg>Atg	p.V1062M	PTCH2_ENST00000447098.2_Missense_Mutation_p.V1062M	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1062					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCATCGGTCACGGGGGCAAAT	0.617									Basal Cell Nevus syndrome				c|||	2	0.000399361	0.0015	0	5008	,	,		20441	0		0	False		,,,				2504	0					uc010olf.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3184-3186)Gtg>Atg		Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.			MET/VAL,MET/VAL	11,4395	17.9+/-39.9	0,11,2192	64	63	63		3184,3184	4.3	0.5	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense,missense	PTCH2	NM_001166292.1,NM_003738.4	21,21	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	probably-damaging,probably-damaging	1062/1147,1062/1204	45288988	11,12995	2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288988C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3184G>A	1.37:g.45288988C>T	ENSP00000361266:p.Val1062Met					PTCH2_uc021omv.1_Missense_Mutation_p.V1062M|PTCH2_uc010olg.2_Missense_Mutation_p.V760M	p.V1062M	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			19	3196	-	Acute lymphoblastic leukemia(166;0.155)		1062					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3184G>A	CCDS516.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	17.93	3.510257	0.64522	0.002497	0.0	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.87256	-2.23;-2.23	4.32	4.32	0.51571	.	0.159733	0.29376	N	0.012330	D	0.93706	0.7989	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.954;0.982	D	0.94181	0.7432	9	.	.	.	-33.9701	16.9784	0.86320	0.0:1.0:0.0:0.0	.	1062;1062	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	M	1062	ENSP00000389703:V1062M;ENSP00000361266:V1062M	.	V	-	1	0	PTCH2	45061575	1.000000	0.71417	0.539000	0.28077	0.332000	0.28634	7.186000	0.77722	2.398000	0.81561	0.479000	0.44913	GTG		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		T	45288988	C	T	45288988	3	4	188	1	0	0	0	0	1	0	0	0	12731	536	19	1	459	1	PTCH2	1	45288988	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		45288988	203961633	1	13257											
NRD1	4898	broad.mit.edu	37	chr1	52260179	52260179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacttcagagttggcatcacCcttgttcagagctttcactt	8	14	8	11	0	4	2	4	0	0	2	4	3	4	2	1	1	1	4	1	1	0	6			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:52260179C>T	ENST00000354831.7	-	26	3133	c.2944G>A	c.(2944-2946)Ggt>Agt	p.G982S	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.G850S|NRD1_ENST00000352171.7_Missense_Mutation_p.G914S|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	913					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTGGCATCACCCTTGTTCAGA	0.547																																						uc001ctc.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2944-2946)Ggt>Agt		Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.							222	217	218					1																	52260179		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260179C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2944G>A	1.37:g.52260179C>T	ENSP00000346890:p.Gly982Ser					NRD1_uc009vzb.3_Missense_Mutation_p.G677S|NRD1_uc001cte.3_Missense_Mutation_p.G850S|NRD1_uc001ctd.4_Missense_Mutation_p.G914S|NRD1_uc001ctf.2_Missense_Mutation_p.G914S|NRD1_uc010ong.1_Non-coding_Transcript	p.G982S	NM_002525	NP_001229290	O43847	NRDC_HUMAN			25	3266	-			913					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2944G>A	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.540845|3.540845	0.65085|0.65085	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	.|T;T;T	.|0.07688	.|3.17;3.17;3.17	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.100034|0.100034	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.34615	.|0.459;0.189;0.321	.|B;B;B	.|0.35859	.|0.122;0.114;0.212	T|T	0.30822|0.30822	-0.9965|-0.9965	6|10	.|0.08179	.|T	.|0.78	-14.4057|-14.4057	19.6556|19.6556	0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|914;913;982	.|F5H6R2;O43847;B1AKJ5	.|.;NRDC_HUMAN;.	E|S	328|914;982;850;344;914	.|ENSP00000262679:G914S;ENSP00000346890:G982S;ENSP00000444416:G850S	.|ENSP00000262679:G914S	G|G	-|-	2|1	0|0	NRD1|NRD1	52032767|52032767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.512000|5.512000	0.67030|0.67030	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.547	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		T	52260179	C	T	52260179	3	4	188	1	0	0	0	0	1	0	0	0	10645	623	22	3	747	3	NRD1	1	52260179	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	6971191	52260179	196990442	2	13258											
HIPK1	204851	broad.mit.edu	37	chr1	114500841	114500841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtttccttgcagcctGgaaccacccagatttgcact	8	11	10	12	0	0	1	0	0	0	1	1	2	1	2	4	2	4	3	4	2	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:114500841G>A	ENST00000369558.1	+	8	2141	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	HIPK1_ENST00000369553.1_Missense_Mutation_p.G243R|HIPK1_ENST00000406344.1_Missense_Mutation_p.G243R|HIPK1_ENST00000369561.4_Missense_Mutation_p.G603R|HIPK1_ENST00000426820.2_Missense_Mutation_p.G637R|HIPK1_ENST00000369554.2_Missense_Mutation_p.G637R|HIPK1_ENST00000369555.2_Missense_Mutation_p.G637R|HIPK1_ENST00000340480.4_Missense_Mutation_p.G263R|HIPK1_ENST00000369559.4_Missense_Mutation_p.G637R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	637					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAGCCTGGAACCACCCA	0.463																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1909-1911)Gga>Aga		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							107	103	105					1																	114500841		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114500841G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1909G>A	1.37:g.114500841G>A	ENSP00000358571:p.Gly637Arg					HIPK1_uc001eel.3_Missense_Mutation_p.G637R|HIPK1_uc001een.3_Missense_Mutation_p.G637R|HIPK1_uc001eeo.3_Missense_Mutation_p.G263R|HIPK1_uc001eep.3_Missense_Mutation_p.G243R	p.G637R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2070	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	637					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1909G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605751	0.66445	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.52754	0.79;0.8;0.84;0.65;0.65;0.84;0.79;3.85;2.92;2.92	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000003	T	0.54615	0.1869	L	0.46157	1.445	0.54753	D	0.999984	B;D;D	0.89917	0.285;1.0;1.0	B;D;D	0.91635	0.219;0.996;0.999	T	0.39921	-0.9590	10	0.26408	T	0.33	.	18.9922	0.92798	0.0:0.0:1.0:0.0	.	243;637;637	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	R	708;637;637;637;637;637;603;263;243;243	ENSP00000407442:G708R;ENSP00000358572:G637R;ENSP00000409673:G637R;ENSP00000358567:G637R;ENSP00000358568:G637R;ENSP00000358571:G637R;ENSP00000358574:G603R;ENSP00000340956:G263R;ENSP00000358566:G243R;ENSP00000384960:G243R	ENSP00000340956:G263R	G	+	1	0	HIPK1	114302364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.286000	0.43496	2.715000	0.92844	0.561000	0.74099	GGA		0.463	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		A	114500841	G	A	114500841	3	1	188	1	0	0	0	0	1	0	0	0	7116	1349	47	3	1953	3	HIPK1	1	114500841	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	62240662	114500841	134749780	3	13259											
RYR2	6262	broad.mit.edu	37	chr1	237777379	237777379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagcaggaggaattgCtgaaatttcactatcacact	14	10	9	8	0	2	3	2	2	0	1	2	5	2	5	0	2	2	2	0	2	3	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:237777379C>T	ENST00000366574.2	+	37	5268	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	RYR2_ENST00000360064.6_Silent_p.L1649L|RYR2_ENST00000542537.1_Silent_p.L1635L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1651	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAATTGCTGAAATTTCA	0.463																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4951-4953)Ctg>Ttg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							63	63	63					1																	237777379		1948	4147	6095	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777379C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4951C>T	1.37:g.237777379C>T							p.L1651L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5071	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1651			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4951C>T	CCDS55691.1																																																																																				0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237777379	C	T	237777379	2	4	188	1	0	0	0	0	0	0	0	1	13769	796	28	3		3	RYR2	1	237777379	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	123276538	237777379	11473242	4	13260											
OR2T34	127068	broad.mit.edu	37	chr1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccttcctgcggccggCggcagaattcatcctgtgga	7	8	13	13	3	1	1	1	0	0	1	3	2	3	2	4	5	1	1	4	5	2	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:248737350C>T	ENST00000328782.2	-	1	730	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562																																						uc001iep.1																			2	Substitution - Missense(2)	p.A237P(4)	lung(2)	breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(709-711)Gcc>Acc		Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.							109	124	119					1																	248737350		2176	4300	6476	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737350C>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.709G>A	1.37:g.248737350C>T	ENSP00000330904:p.Ala237Thr						p.A237T	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	709	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		237					B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.709G>A	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397614	0.25205	.	.	ENSG00000183310	ENST00000328782	T	0.00588	6.37	2.37	-1.05	0.10036	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	N	0.10782	0.045	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.43393	-0.9394	9	0.62326	D	0.03	.	4.3383	0.11097	0.0:0.3157:0.1794:0.5049	.	237	Q8NGX1	O2T34_HUMAN	T	237	ENSP00000330904:A237T	ENSP00000330904:A237T	A	-	1	0	OR2T34	246803973	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-4.196000	0.00276	-0.148000	0.11234	0.123000	0.15791	GCC		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		T	248737350	C	T	248737350	3	4	188	1	0	0	0	0	1	0	0	0	11025	768	27	1	251	1	OR2T34	1	248737350	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	10959971	248737350	513271	5	13261											
IL1F6	27179	broad.mit.edu	37	chr2	113764258	113764258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgggcctgaatggaCtcaatctctgcctgatgtgt	7	13	10	11	0	3	2	1	2	2	0	4	3	3	3	3	2	2	0	3	2	3	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:113764258C>T	ENST00000259211.6	+	3	619	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	70					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTGAATGGACTCAATCTCTG	0.512																																						uc010yxr.2																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(208-210)Ctc>Ttc		Homo sapiens interleukin 36, alpha (IL36A), mRNA.							197	203	201					2																	113764258		1993	4145	6138	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113764258C>T	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.208C>T	2.37:g.113764258C>T	ENSP00000259211:p.Leu70Phe						p.L70F	NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN			2	208	+			70					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.208C>T	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650250	0.47362	.	.	ENSG00000136694	ENST00000259211	T	0.17054	2.3	5.11	2.01	0.26516	.	0.499030	0.18454	N	0.140737	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	P	0.34412	0.453	B	0.35813	0.211	T	0.21793	-1.0235	10	0.33940	T	0.23	-8.1702	3.1539	0.06498	0.1755:0.5528:0.1703:0.1013	.	70	Q9UHA7	IL36A_HUMAN	F	70	ENSP00000259211:L70F	ENSP00000259211:L70F	L	+	1	0	IL36A	113480729	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.136000	0.10405	0.636000	0.30508	0.591000	0.81541	CTC		0.512	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		T	113764258	C	T	113764258	3	4	188	1	0	0	0	0	1	0	0	0	7654	565	20	3	218	3	IL1F6	2	113764258	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		113764258	129435115	6	13262											
ZAK	51776	broad.mit.edu	37	chr2	174131096	174131096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagagaggggtcgatactCagacagaagcaggaacaaat	16	6	12	7	1	2	3	2	0	0	3	3	6	2	4	0	3	3	1	0	3	4	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:174131096C>T	ENST00000375213.3	+	20	2099	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S674L|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		674					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GGTCGATACTCAGACAGAAGC	0.448																																						uc002uhz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(2020-2022)tCa>tTa		Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.							98	100	99					2																	174131096		1916	4126	6042	SO:0001583	missense	51776				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr2:174131096C>T																												ENST00000375213.3:c.2021C>T	2.37:g.174131096C>T	ENSP00000364361:p.Ser674Leu					MLK7-AS1_uc002uib.3_Intron	p.S674L	NM_016653	NP_057737	Q14206	RCAN2_HUMAN			19	2221	+			0					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2021C>T	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082305	0.55861	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74421	-0.84;-0.84	5.86	4.98	0.66077	.	0.474854	0.23132	N	0.051565	T	0.56863	0.2014	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54662	-0.8260	10	0.49607	T	0.09	.	10.112	0.42568	0.1382:0.7914:0.0:0.0705	.	674	Q9NYL2	MLTK_HUMAN	L	674	ENSP00000387259:S674L;ENSP00000364361:S674L	ENSP00000364361:S674L	S	+	2	0	AC013461.1	173839342	0.230000	0.23740	0.967000	0.41034	0.953000	0.61014	1.800000	0.38833	2.781000	0.95711	0.591000	0.81541	TCA		0.448	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			T	174131096	C	T	174131096	3	4	188	1	0	0	0	0	1	0	0	0	17509	838	29	3	2480	3	ZAK	2	174131096	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	60366838	174131096	69068277	7	13263											
ACADL	33	broad.mit.edu	37	chr2	211070506	211070506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatcacttaatgacccAttactgatgaacacctgcaa	16	9	4	12	0	1	3	1	3	0	0	1	3	1	3	2	0	4	1	2	0	5	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:211070506A>G	ENST00000233710.3	-	6	845	c.618T>C	c.(616-618)aaT>aaC	p.N206N	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	206					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTAATGACCCATTACTGATGA	0.388																																						uc002vdz.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(616-618)aaT>aaC		Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.							125	116	119					2																	211070506		2203	4300	6503	SO:0001819	synonymous_variant	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211070506A>G	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.618T>C	2.37:g.211070506A>G							p.N206N	NM_001608	NP_001599	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	5	846	-		Renal(323;0.202)	206					B2R8T3|Q8IUN8	Silent	SNP	ENST00000233710.3	37	c.618T>C	CCDS2389.1																																																																																				0.388	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		G	211070506	A	G	211070506	2	3	188	1	0	0	0	0	0	0	0	1	112	214	8	4		4	ACADL	2	211070506	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08	36939410	211070506	32128867	8	13264											
NKTR	4820	broad.mit.edu	37	chr3	42676817	42676817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgcagagattaagagcAtatagaccacctagtggaga	17	7	11	6	0	0	4	0	0	0	4	0	7	0	4	2	1	2	2	2	1	5	4	rs142015233		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:42676817A>G	ENST00000232978.8	+	12	1310	c.1122A>G	c.(1120-1122)gcA>gcG	p.A374A	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	374					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTAAGAGCATATAGACCAC	0.388																																						uc003clo.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1120-1122)gcA>gcG		Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.		A		0,4406		0,0,2203	95	92	93		1122	-11.7	0.6	3	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NKTR	NM_005385.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		374/1463	42676817	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42676817A>G		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1122A>G	3.37:g.42676817A>G						NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Silent_p.A121A|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.3_Silent_p.A74A	p.A374A	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	11	1269	+			374						Silent	SNP	ENST00000232978.8	37	c.1122A>G	CCDS2702.1																																																																																				0.388	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		G	42676817	A	G	42676817	2	3	188	1	0	0	0	0	0	0	0	1	10448	204	8	4		4	NKTR	3	42676817	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08		42676817	155345613	9	13265											
KBTBD8	84541	broad.mit.edu	37	chr3	67054666	67054666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgttggacgactgtttgCgcgatgccagttgcaatgga	9	12	13	7	3	0	0	0	0	0	0	0	4	0	2	1	2	3	4	1	2	2	4	rs183048924	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.C399C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													C|||	2	0.000399361	8e-04	0	5008	,	,		20296	0.001		0	False		,,,				2504	0					uc003dmy.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1273-1275)tgC>tgT		Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.							190	176	181					3																	67054666		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054666C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T						KBTBD8_uc011bfv.2_Intron	p.C425C	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	2	1328	+		Lung NSC(201;0.0765)	425					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1275C>T	CCDS2906.2																																																																																				0.413	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		T	67054666	C	T	67054666	2	4	188	1	0	0	0	0	0	0	0	1	7999	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	24377849	67054666	130967764	10	13266											
ROBO1	6091	broad.mit.edu	37	chr3	78734960	78734960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatttaaagtctggcagatGtaataaccaacatcagatcg	16	10	7	8	1	2	2	1	0	1	2	3	2	2	2	1	1	2	2	1	1	5	4			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:78734960G>A	ENST00000464233.1	-	10	1391	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	ROBO1_ENST00000467549.1_Silent_p.Y390Y|ROBO1_ENST00000436010.2_Silent_p.Y387Y|ROBO1_ENST00000495273.1_Silent_p.Y390Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	426	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGCAGATGTAATAACCAA	0.393																																						uc003dqe.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1276-1278)taC>taT		Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.							69	67	68					3																	78734960		1911	4113	6024	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78734960G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1278C>T	3.37:g.78734960G>A						ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	p.Y426Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	9	1486	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	426			Ig-like C2-type 4.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.1278C>T	CCDS54611.1																																																																																				0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78734960	G	A	78734960	2	1	188	1	0	0	0	0	0	0	0	1	13513	1372	48	3		3	ROBO1	3	78734960	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	11680294	78734960	119287470	11	13267											
DNAJB8	165721	broad.mit.edu	37	chr3	128181904	128181904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacggtcatacagggagCgtttcttggagtcagacaga	11	8	13	9	2	3	2	2	0	1	2	3	4	3	4	0	3	3	2	0	3	1	3	rs201659373		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:128181904C>T	ENST00000469083.1	-	2	2742	c.185G>A	c.(184-186)cGc>cAc	p.R62H	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R62H|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	62	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATACAGGGAGCGTTTCTTGGA	0.602																																						uc003ekk.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(184-186)cGc>cAc		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.							133	133	133					3																	128181904		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181904C>T		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.185G>A	3.37:g.128181904C>T	ENSP00000417418:p.Arg62His					DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R62H	p.R62H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	1846	-			62			J.		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.185G>A	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550767	0.45383	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	D;D	0.83335	-1.71;-1.71	4.42	4.42	0.53409	Heat shock protein DnaJ, N-terminal (4);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	H	0.98849	4.35	0.47659	D	0.999489	D	0.89917	1.0	D	0.81914	0.995	D	0.95722	0.8767	10	0.87932	D	0	.	12.1714	0.54161	0.1711:0.8289:0.0:0.0	.	62	Q8NHS0	DNJB8_HUMAN	H	62	ENSP00000417418:R62H;ENSP00000316053:R62H	ENSP00000316053:R62H	R	-	2	0	DNAJB8	129664594	0.949000	0.32298	0.896000	0.35187	0.002000	0.02628	2.203000	0.42752	2.003000	0.58678	0.561000	0.74099	CGC		0.602	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		T	128181904	C	T	128181904	3	4	188	1	0	0	0	0	1	0	0	0	4626	768	27	1	517	1	DNAJB8	3	128181904	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	49446944	128181904	69840526	12	13268											
ARL14	80117	broad.mit.edu	37	chr3	160395695	160395695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaggagacactttggcGttcttcaagcagaactgagg	12	9	12	8	1	3	4	2	1	1	3	3	5	3	4	0	3	2	2	0	3	3	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:160395695G>A	ENST00000320767.2	+	1	748	c.561G>A	c.(559-561)gcG>gcA	p.A187A		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	187					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ACACTTTGGCGTTCTTCAAGC	0.473																																						uc003fdq.3																			0				lung(6)	6						c.(559-561)gcG>gcA		Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.							40	42	41					3																	160395695		2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395695G>A	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22974	protein-coding gene	gene with protein product		614439	"ADP-ribosylation factor 7"	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.561G>A	3.37:g.160395695G>A							p.A187A	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		0	748	+			187					Q9H655	Silent	SNP	ENST00000320767.2	37	c.561G>A	CCDS3192.1																																																																																				0.473	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		A	160395695	G	A	160395695	2	1	188	1	0	0	0	0	0	0	0	1	930	1132	40	1		1	ARL14	3	160395695	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	32213791	160395695	37626735	13	13269											
KNG1	3827	broad.mit.edu	37	chr3	186459456	186459456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattcaggaaaagaacaagGgcatactcgtagacatgact	16	7	11	7	1	1	3	1	1	0	2	2	5	1	5	0	3	2	2	0	3	6	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:186459456G>A	ENST00000265023.4	+	10	1483	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	424	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAAGAACAAGGGCATACTCGT	0.458																																						uc011bsa.2																			0		p.E423D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1270-1272)gGg>gAg		Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	Ouabain(DB01092)						96	98	97					3																	186459456		2195	4299	6494	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459456G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1271G>A	3.37:g.186459456G>A	ENSP00000265023:p.Gly424Glu					KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	p.G424E	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1505	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		424			His-rich.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1271G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037530	0.19669	.	.	ENSG00000113889	ENST00000265023	T	0.17528	2.27	5.24	2.4	0.29515	.	0.712836	0.12775	N	0.440173	T	0.19485	0.0468	M	0.73962	2.25	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.22871	-1.0204	9	.	.	.	-1.2216	7.0271	0.24946	0.2921:0.0:0.7079:0.0	.	424	P01042	KNG1_HUMAN	E	424	ENSP00000265023:G424E	.	G	+	2	0	KNG1	187942150	0.043000	0.20138	0.091000	0.20842	0.010000	0.07245	1.120000	0.31271	0.428000	0.26173	-0.150000	0.13652	GGG		0.458	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		A	186459456	G	A	186459456	3	1	188	1	0	0	0	0	1	0	0	0	8427	1232	43	3	1309	3	KNG1	3	186459456	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	26063761	186459456	11562974	14	13270											
UGT2B10	7365	broad.mit.edu	37	chr4	69681966	69681966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttaaacttgaagtttatCctacatctttaactaaaact	14	16	2	9	0	2	1	0	1	2	0	3	1	3	1	1	0	4	1	1	0	8	8			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:69681966C>A	ENST00000265403.7	+	1	256	c.229C>A	c.(229-231)Cct>Act	p.P77T	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P77T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	77					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.3																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(229-231)Cct>Act		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							78	84	82					4																	69681966		2201	4296	6497	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69681966C>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.229C>A	4.37:g.69681966C>A	ENSP00000265403:p.Pro77Thr					UGT2B10_uc011cam.2_Missense_Mutation_p.P77T	p.P77T	NM_001075	NP_001066	P36537	UDB10_HUMAN			0	254	+			77					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.229C>A		.	.	.	.	.	.	.	.	.	.	c	7.675	0.687873	0.14973	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61742	0.08;3.32	2.63	-0.36	0.12568	.	0.421279	0.21149	U	0.079342	T	0.64148	0.2572	L	0.55213	1.73	0.09310	N	1	D;P	0.55605	0.972;0.619	D;P	0.68765	0.96;0.543	T	0.56341	-0.7995	10	0.66056	D	0.02	.	6.765	0.23562	0.0:0.6341:0.0:0.3659	.	77;77	B4DPP1;P36537	.;UDB10_HUMAN	T	77	ENSP00000265403:P77T;ENSP00000413420:P77T	ENSP00000265403:P77T	P	+	1	0	UGT2B10	69716555	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.912000	0.01582	-0.474000	0.06862	0.184000	0.17185	CCT		0.348	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		A	69681966	C	A	69681966	3	1	188	1	0	0	0	0	1	0	0	0	16953	855	30	5	231	5	UGT2B10	4	69681966	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		69681966	121472310	15	13271											
TLR2	7097	broad.mit.edu	37	chr4	154625962	154625962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggaagcccaggaaagctCccagcaggaacatctgctat	15	5	10	11	0	1	0	0	0	1	0	2	3	2	3	2	3	5	3	2	3	5	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:154625962C>T	ENST00000260010.6	+	1	3311	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	635					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CAGGAAAGCTCCCAGCAGGAA	0.537																																						uc003inq.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1903-1905)Ccc>Tcc		Homo sapiens toll-like receptor 2 (TLR2), mRNA.							36	35	36					4																	154625962		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625962C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1903C>T	4.37:g.154625962C>T	ENSP00000260010:p.Pro635Ser					TLR2_uc003inr.3_Missense_Mutation_p.P635S|TLR2_uc003ins.3_Missense_Mutation_p.P635S|TLR2_uc021xtl.1_Missense_Mutation_p.P635S	p.P635S	NM_003264	NP_003255	O60603	TLR2_HUMAN			2	2122	+	all_hematologic(180;0.093)	Renal(120;0.117)	635					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1903C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	4.543	0.100786	0.08731	.	.	ENSG00000137462	ENST00000260010	T	0.28666	1.6	5.65	2.79	0.32731	.	0.475184	0.21745	N	0.069763	T	0.27278	0.0669	L	0.58810	1.83	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.26224	-1.0109	10	0.62326	D	0.03	.	6.0834	0.19954	0.1313:0.5478:0.2534:0.0674	.	635	O60603	TLR2_HUMAN	S	635	ENSP00000260010:P635S	ENSP00000260010:P635S	P	+	1	0	TLR2	154845412	0.000000	0.05858	0.010000	0.14722	0.579000	0.36224	-0.094000	0.11094	0.677000	0.31305	0.655000	0.94253	CCC		0.537	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			T	154625962	C	T	154625962	3	4	188	1	0	0	0	0	1	0	0	0	15948	855	30	3	1905	3	TLR2	4	154625962	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	84943996	154625962	36528314	16	13272											
CDH9	1007	broad.mit.edu	37	chr5	26902589	26902589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcaaagtacttactttaTtaaattgttcctggcatctg	10	19	5	7	0	2	0	1	0	1	0	3	0	3	0	1	1	2	3	1	1	6	9			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:26902589T>A	ENST00000231021.4	-	7	1421	c.1249A>T	c.(1249-1251)Ata>Tta	p.I417L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTTACTTTATTAAATTGTTC	0.308																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1249-1251)Ata>Tta		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							63	60	61					5																	26902589		2202	4299	6501	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902589T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1249A>T	5.37:g.26902589T>A	ENSP00000231021:p.Ile417Leu						p.I417L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1418	-			417			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1249A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154238	0.57259	.	.	ENSG00000113100	ENST00000231021	T	0.55588	0.51	5.62	3.21	0.36854	Cadherin (4);Cadherin-like (1);	0.103582	0.64402	D	0.000003	T	0.44307	0.1287	L	0.45698	1.435	0.37210	D	0.904775	B	0.22480	0.07	B	0.32149	0.141	T	0.39941	-0.9589	9	.	.	.	.	7.9694	0.30119	0.0:0.234:0.0:0.766	.	417	Q9ULB4	CADH9_HUMAN	L	417	ENSP00000231021:I417L	.	I	-	1	0	CDH9	26938346	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.235000	0.32671	0.972000	0.38314	0.528000	0.53228	ATA		0.308	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26902589	T	A	26902589	3	1	188	1	0	0	0	0	1	0	0	0	3117	1493	52	5	1144	5	CDH9	5	26902589	Missense_Mutation	SNP	T	TCGA-27-1836-01A-01D-1494-08		26902589	154012671	17	13273											
SPEF2	79925	broad.mit.edu	37	chr5	35641735	35641735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgcaaaccatgcaaCgtctgacaaatttaagactt	15	10	8	8	1	1	3	0	1	1	2	1	4	1	3	1	1	4	2	1	1	4	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:35641735C>T	ENST00000356031.3	+	3	518	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	SPEF2_ENST00000282469.6_Missense_Mutation_p.R122C|SPEF2_ENST00000509059.1_Missense_Mutation_p.R122C|SPEF2_ENST00000440995.2_Missense_Mutation_p.R122C	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	122					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCATGCAACGTCTGACAAA	0.358																																						uc003jjo.3																			0		p.R122H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(364-366)Cgt>Tgt		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							83	84	83					5																	35641735		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641735C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.364C>T	5.37:g.35641735C>T	ENSP00000348314:p.Arg122Cys					SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.4_Missense_Mutation_p.R122C	p.R122C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	475	+	all_lung(31;7.56e-05)		122					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.364C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282771	0.40394	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.93	5.07	0.68467	.	0.227295	0.46145	D	0.000302	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	P;P;D	0.56287	0.938;0.951;0.975	P;P;P	0.47376	0.545;0.498;0.491	T	0.11324	-1.0592	10	0.66056	D	0.02	.	15.4348	0.75137	0.0:0.9336:0.0:0.0664	.	122;122;122	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	C	122	ENSP00000282469:R122C;ENSP00000348314:R122C;ENSP00000421593:R122C;ENSP00000426259:R122C;ENSP00000412125:R122C	ENSP00000282469:R122C	R	+	1	0	SPEF2	35677492	1.000000	0.71417	0.013000	0.15412	0.015000	0.08874	4.507000	0.60434	1.533000	0.49186	-0.123000	0.14984	CGT		0.358	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		T	35641735	C	T	35641735	3	4	188	1	0	0	0	0	1	0	0	0	15034	536	19	1	374	1	SPEF2	5	35641735	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	8739146	35641735	145273525	18	13274											
EFNA5	1946	broad.mit.edu	37	chr5	106763058	106763058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttgaaccctttggaaGtgtggtcgcaggcactgtag	8	12	12	9	1	1	1	0	1	1	0	3	2	1	2	1	3	1	3	1	3	3	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:106763058G>C	ENST00000333274.6	-	2	559	c.278C>G	c.(277-279)aCt>aGt	p.T93S	EFNA5_ENST00000509503.1_Missense_Mutation_p.T93S	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	93	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCCTTTGGAAGTGTGGTCGCA	0.488																																						uc003kol.3																			0				large_intestine(6)	6						c.(277-279)aCt>aGt		Homo sapiens ephrin-A5 (EFNA5), mRNA.							128	125	126					5																	106763058		2202	4300	6502	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106763058G>C	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.278C>G	5.37:g.106763058G>C	ENSP00000328777:p.Thr93Ser					EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	p.T93S	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	1	560	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	93						Missense_Mutation	SNP	ENST00000333274.6	37	c.278C>G	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043436	0.19748	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	D;D	0.92858	-3.12;-3.12	6.06	6.06	0.98353	Cupredoxin (2);	0.042571	0.85682	D	0.000000	D	0.87649	0.6230	L	0.42686	1.345	0.58432	D	0.999998	B;B	0.21753	0.06;0.001	B;B	0.18871	0.023;0.006	T	0.82063	-0.0643	10	0.08381	T	0.77	-6.0541	15.7203	0.77705	0.0668:0.0:0.9332:0.0	.	93;93	D6RDV5;P52803	.;EFNA5_HUMAN	S	93	ENSP00000328777:T93S;ENSP00000426989:T93S	ENSP00000328777:T93S	T	-	2	0	EFNA5	106790957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.434000	0.73408	2.882000	0.98803	0.655000	0.94253	ACT		0.488	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		C	106763058	G	C	106763058	3	2	188	1	0	0	0	0	1	0	0	0	4954	1029	36	5	424	5	EFNA5	5	106763058	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	71121323	106763058	74152202	19	13275											
KIF4B	285643	broad.mit.edu	37	chr5	154396474	154396474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctccagactcttcttttGaatatatcccacctaagcca	11	14	3	13	0	3	2	0	1	3	1	5	2	4	2	4	0	1	0	4	0	5	7			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:154396474G>A	ENST00000435029.4	+	1	3215	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1019	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTTCTTTTGAATATATCCC	0.403																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3055-3057)Gaa>Aaa		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							136	140	138					5																	154396474		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396474G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3055G>A	5.37:g.154396474G>A	ENSP00000387875:p.Glu1019Lys						p.E1019K	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3215	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1019			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3055G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892181	0.33442	.	.	ENSG00000226650	ENST00000435029	T	0.69806	-0.43	1.77	1.77	0.24775	.	.	.	.	.	T	0.51075	0.1653	L	0.53249	1.67	0.41536	D	0.988484	P	0.41313	0.745	B	0.27500	0.08	T	0.53236	-0.8467	9	0.32370	T	0.25	.	9.5105	0.39074	0.0:0.0:1.0:0.0	.	1019	Q2VIQ3	KIF4B_HUMAN	K	1019	ENSP00000387875:E1019K	ENSP00000387875:E1019K	E	+	1	0	KIF4B	154376667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.444000	0.44890	1.290000	0.44636	0.563000	0.77884	GAA		0.403	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154396474	G	A	154396474	3	1	188	1	0	0	0	0	1	0	0	0	8304	1291	45	3	3057	3	KIF4B	5	154396474	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	47633416	154396474	26518786	20	13276											
SLIT3	6586	broad.mit.edu	37	chr5	168176560	168176560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacctagggttcccaCtgacgatccgcctcttcctc	5	11	8	17	2	2	1	0	1	2	0	6	2	5	1	5	2	0	2	5	2	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:168176560C>T	ENST00000519560.1	-	19	2473	c.2054G>A	c.(2053-2055)aGt>aAt	p.S685N	SLIT3_ENST00000404867.3_Missense_Mutation_p.S685N|SLIT3_ENST00000332966.8_Missense_Mutation_p.S685N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	685	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTTCCCACTGACGATCCG	0.557																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2053-2055)aGt>aAt		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							117	118	117					5																	168176560		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168176560C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2054G>A	5.37:g.168176560C>T	ENSP00000430333:p.Ser685Asn					SLIT3_uc003mab.3_Missense_Mutation_p.S685N	p.S685N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	2474	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	685			LRRCT 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2054G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143029	0.77888	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76448	-1.01;-1.02;-1.0	5.42	5.42	0.78866	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	L	0.32530	0.975	0.80722	D	1	P	0.37233	0.588	B	0.40602	0.334	T	0.75462	-0.3309	10	0.52906	T	0.07	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	685	O75094	SLIT3_HUMAN	N	685	ENSP00000430333:S685N;ENSP00000332164:S685N;ENSP00000384890:S685N	ENSP00000332164:S685N	S	-	2	0	SLIT3	168109138	0.988000	0.35896	0.813000	0.32504	0.879000	0.50718	2.598000	0.46223	2.525000	0.85131	0.655000	0.94253	AGT		0.557	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168176560	C	T	168176560	3	4	188	1	0	0	0	0	1	0	0	0	14741	565	20	3	2589	3	SLIT3	5	168176560	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	13780086	168176560	12738700	21	13277											
KIF13A	63971	broad.mit.edu	37	chr6	17788096	17788097	+	Frame_Shift_Del	DEL	AA	AA	-																															acctctcccttacgcagtttAagtcttcttcctaacatcag																										TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:17788096_17788097delAA	ENST00000259711.6	-	27	3376_3377	c.3271_3272delTT	c.(3271-3273)ttafs	p.L1091fs	KIF13A_ENST00000378826.2_Frame_Shift_Del_p.L1091fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.L1078fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.L1078fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.L1091fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1091					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACGCAGTTTAAGTCTTCTTCC	0.366																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3271-3273)ttafs		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17788096_17788097delAA	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3271_3272delTT	6.37:g.17788096_17788097delAA	ENSP00000259711:p.Leu1091fs					KIF13A_uc003ncf.3_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.L1078fs	p.L1091fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3431_3432	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1091					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	c.3271_3272delTT	CCDS47381.1																																																																																				0.366	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			-	17788097	AA	-	17788096	7	5	188	1	0	1	0	1	0	0	0	0	8274	372	13	0	2222	0	KIF13A	6	17788096	Frame_Shift_Del	DEL	AA	TCGA-27-1836-01A-01D-1494-08		17788096	153326971	22	13278											
COL11A2	1302	broad.mit.edu	37	chr6	33143356	33143356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcatcccatcaccttctCgcccatgagccctgggggcc	5	8	8	20	1	3	1	2	1	1	0	5	1	4	1	6	2	1	0	6	2	0	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:33143356C>T	ENST00000374708.4	-	28	2371	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.E731K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E770K|COL11A2_ENST00000341947.2_Missense_Mutation_p.E791K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E710K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E744K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E765K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E684K	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	791	Triple-helical region.			NQ -> KP (in Ref. 6; AAA35498). {ECO:0000305}.	cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCACCTTCTCGCCCATGAGC	0.657																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2371-2373)Gag>Aag		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							95	81	86					6																	33143356		1511	2708	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143356C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2113G>A	6.37:g.33143356C>T	ENSP00000363840:p.Glu705Lys					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E705K|COL11A2_uc003ocz.1_Missense_Mutation_p.E684K	p.E791K	NM_080680	NP_542411	P13942	COBA2_HUMAN			29	2599	-			791			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2371G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976049	0.92982	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	L	0.45698	1.435	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.993	D	0.94698	0.7880	10	0.66056	D	0.02	.	14.6683	0.68924	0.0:1.0:0.0:0.0	.	684;705;791	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	K	705;791;770;765;744;731;710;684	ENSP00000363840:E705K;ENSP00000339915:E791K;ENSP00000350079:E770K;ENSP00000363846:E765K;ENSP00000363845:E744K;ENSP00000378623:E731K;ENSP00000363844:E710K;ENSP00000355123:E684K	ENSP00000339915:E791K	E	-	1	0	COL11A2	33251334	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.131000	0.77243	2.421000	0.82119	0.478000	0.44815	GAG		0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			T	33143356	C	T	33143356	3	4	188	1	0	0	0	0	1	0	0	0	3668	893	31	2	2987	2	COL11A2	6	33143356	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	15355260	33143356	137971711	23	13279											
GPR31	2853	broad.mit.edu	37	chr6	167571202	167571202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccctgacccggaacaGgaaggtccacagcgccaccg	11	2	10	18	3	0	1	0	1	0	0	1	3	1	3	6	3	2	0	6	3	2	0			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:167571202G>C	ENST00000366834.1	-	1	615	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	40					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCCGGAACAGGAAGGTCCAC	0.662																																						uc011egq.2																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(118-120)Ctg>Gtg		Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.							54	40	45					6																	167571202		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167571202G>C	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.118C>G	6.37:g.167571202G>C	ENSP00000355799:p.Leu40Val						p.L40V	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	0	118	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	40					B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.118C>G	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	G	3.843	-0.033401	0.07543	.	.	ENSG00000120436	ENST00000366834	T	0.39056	1.1	3.54	-4.55	0.03441	GPCR, rhodopsin-like superfamily (1);	1.545570	0.04635	N	0.404363	T	0.08891	0.0220	L	0.28115	0.83	0.22240	N	0.999267	B	0.18310	0.027	B	0.20384	0.029	T	0.17440	-1.0369	10	0.22706	T	0.39	-11.1782	3.9855	0.09514	0.4417:0.0:0.2903:0.268	.	40	O00270	GPR31_HUMAN	V	40	ENSP00000355799:L40V	ENSP00000355799:L40V	L	-	1	2	GPR31	167491192	0.000000	0.05858	0.355000	0.25773	0.350000	0.29205	-0.778000	0.04664	-0.611000	0.05709	0.313000	0.20887	CTG		0.662	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		C	167571202	G	C	167571202	3	2	188	1	0	0	0	0	1	0	0	0	6687	991	35	5	844	5	GPR31	6	167571202	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	134427846	167571202	3543865	24	13280											
TNKS	8658	broad.mit.edu	37	chr8	9565981	9565981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcattaatttcaaacaaccGcagtctcatgaaacagcact	16	10	4	11	1	3	1	3	1	1	0	4	1	3	1	1	0	4	2	1	0	4	2	rs370231803		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:9565981G>A	ENST00000310430.6	+	9	1583	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TNKS_ENST00000520408.1_Silent_p.P519P|TNKS_ENST00000518281.1_Silent_p.P282P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	519					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCAAACAACCGCAGTCTCATG	0.328																																						uc003wss.3																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1555-1557)ccG>ccA		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.							113	125	121					8																	9565981		2203	4299	6502	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9565981G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1557G>A	8.37:g.9565981G>A						TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.2_Silent_p.P282P	p.P519P	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	8	1562	+			519					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.1557G>A	CCDS5974.1																																																																																				0.328	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		A	9565981	G	A	9565981	2	1	188	1	0	0	0	0	0	0	0	1	16316	1074	38	1		1	TNKS	8	9565981	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08		9565981	136798041	25	13281											
KIAA1429	25962	broad.mit.edu	37	chr8	95531632	95531632	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggcttgcagcacaccAgggtgagcacttgttactgg	7	12	13	9	0	0	1	0	1	0	0	0	1	0	1	1	3	4	5	1	3	1	4			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:95531632A>G	ENST00000297591.5	-	9	2169	c.2094T>C	c.(2092-2094)ccT>ccC	p.P698P	KIAA1429_ENST00000437199.1_Silent_p.P698P|KIAA1429_ENST00000421249.2_Silent_p.P698P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	698					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCAGCACACCAGGGTGAGCAC	0.388																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2092-2094)ccT>ccC		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							62	62	62					8																	95531632		2198	4288	6486	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531632A>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2094T>C	8.37:g.95531632A>G						KIAA1429_uc003ygp.3_Silent_p.P698P|KIAA1429_uc010maz.2_Non-coding_Transcript	p.P698P	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	2165	-	Breast(36;3.29e-05)		698					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.2094T>C	CCDS34923.1																																																																																				0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		G	95531632	A	G	95531632	2	3	188	1	0	0	0	0	0	0	0	1	8231	175	7	4		4	KIAA1429	8	95531632	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08	85965651	95531632	50832390	26	13282											
FOXH1	8928	broad.mit.edu	37	chr8	145700407	145700407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccgcccagaagttgccCttggcctggggctttgcagg	5	9	14	13	2	0	1	0	0	0	1	1	2	0	1	4	4	2	3	4	4	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:145700407C>T	ENST00000377317.4	-	3	890	c.312G>A	c.(310-312)aaG>aaA	p.K104K	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	104					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGAAGTTGCCCTTGGCCTGGG	0.687																																						uc003zdc.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(310-312)aaG>aaA		Homo sapiens forkhead box H1 (FOXH1), mRNA.							15	12	13					8																	145700407		2190	4277	6467	SO:0001819	synonymous_variant	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145700407C>T	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.312G>A	8.37:g.145700407C>T							p.K104K	NM_003923	NP_003914	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		2	891	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		104					D3DWM4	Silent	SNP	ENST00000377317.4	37	c.312G>A	CCDS6428.1																																																																																				0.687	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			T	145700407	C	T	145700407	2	4	188	1	0	0	0	0	0	0	0	1	6008	680	24	3		3	FOXH1	8	145700407	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	50168775	145700407	663615	27	13283											
KIAA1539	80256	broad.mit.edu	37	chr9	35108147	35108147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaccccgggggatgtcGccccccctgctgggctgtag	4	7	16	14	2	0	1	0	0	0	1	1	2	0	2	5	4	1	4	5	4	2	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:35108147G>A	ENST00000378561.1	-	2	3180	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000605244.1_Missense_Mutation_p.A42V|FAM214B_ENST00000488109.2_Missense_Mutation_p.A42V|FAM214B_ENST00000378554.2_Missense_Mutation_p.A42V|FAM214B_ENST00000378557.1_Missense_Mutation_p.A42V|FAM214B_ENST00000322813.5_Missense_Mutation_p.A42V|FAM214B_ENST00000603301.1_Missense_Mutation_p.A42V|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	42						nucleus (GO:0005634)											GGGGGATGTCGCCCCCCCTGC	0.652																																						uc003zwl.3																			0											c.(124-126)gCg>gTg		Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.							12	13	13					9																	35108147		2148	4216	6364	SO:0001583	missense	80256					nucleus		g.chr9:35108147G>A	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.125C>T	9.37:g.35108147G>A	ENSP00000367823:p.Ala42Val					FAM214B_uc003zwm.3_Missense_Mutation_p.A42V|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Missense_Mutation_p.A42V|FAM214B_uc003zwp.1_Missense_Mutation_p.A42V|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Missense_Mutation_p.A42V	p.A42V	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN			2	450	-			42					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.125C>T	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411928	0.25465	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.72	1.92	0.25849	.	0.397496	0.24398	N	0.038871	T	0.23806	0.0576	L	0.36672	1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	9	0.02654	T	1	-0.493	6.3687	0.21469	0.465:0.0:0.535:0.0	.	42	Q7L5A3	K1539_HUMAN	V	42	.	ENSP00000319897:A42V	A	-	2	0	KIAA1539	35098147	0.763000	0.28462	0.525000	0.27900	0.982000	0.71751	0.882000	0.28186	0.236000	0.21180	-0.254000	0.11334	GCG		0.652	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		A	35108147	G	A	35108147	3	1	188	1	0	0	0	0	1	0	0	0	8242	1087	38	1	1519	1	KIAA1539	9	35108147	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		35108147	106105284	28	13284											
FAM102A	399665	broad.mit.edu	37	chr9	130710434	130710434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccactgctggtcccacCacccttacacgtcagctgca	7	7	7	20	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	1	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:130710434C>T	ENST00000373095.1	-	6	907	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Missense_Mutation_p.G36S	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	178	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTGGTCCCACCACCCTTACAC	0.612																																						uc004bsx.2																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(532-534)Ggt>Agt		Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.							90	80	83					9																	130710434		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130710434C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.532G>A	9.37:g.130710434C>T	ENSP00000362187:p.Gly178Ser					FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	p.G178S	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN			5	928	-			178			Ser-rich.		A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.532G>A	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635996	0.47049	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	4.99	4.99	0.66335	.	0.110976	0.64402	D	0.000011	T	0.51924	0.1703	L	0.49126	1.545	0.34060	D	0.657211	B	0.20368	0.044	B	0.19148	0.024	T	0.59558	-0.7432	9	0.30078	T	0.28	-22.6471	15.0086	0.71533	0.0:1.0:0.0:0.0	.	178	Q5T9C2	F102A_HUMAN	S	178;36	.	ENSP00000362176:G36S	G	-	1	0	FAM102A	129750255	0.999000	0.42202	0.999000	0.59377	0.961000	0.63080	5.416000	0.66417	2.307000	0.77673	0.563000	0.77884	GGT		0.612	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			T	130710434	C	T	130710434	3	4	188	1	0	0	0	0	1	0	0	0	5382	594	21	3	646	3	FAM102A	9	130710434	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	95602287	130710434	10502997	29	13285											
LAMC3	10319	broad.mit.edu	37	chr9	133947006	133947006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccagggccatcacctgCttccaggtacagcaggagcg	9	7	11	14	1	2	0	1	0	1	0	3	1	3	1	4	3	5	3	4	3	2	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:133947006C>T	ENST00000361069.4	+	18	3338	c.3205C>T	c.(3205-3207)Ctt>Ttt	p.L1069F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1069	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCATCACCTGCTTCCAGGTAC	0.672																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3205-3207)Ctt>Ttt		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							33	33	33					9																	133947006		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133947006C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3205C>T	9.37:g.133947006C>T	ENSP00000354360:p.Leu1069Phe						p.L1069F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	17	3303	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1069			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3205C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	7.419	0.636278	0.14386	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.31510	1.49	5.34	-1.19	0.09585	.	0.473148	0.20292	N	0.095215	T	0.20659	0.0497	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.13388	-1.0511	10	0.37606	T	0.19	.	5.0172	0.14343	0.0:0.4209:0.2615:0.3176	.	1069	Q9Y6N6	LAMC3_HUMAN	F	1069	ENSP00000354360:L1069F	ENSP00000347156:L1069F	L	+	1	0	LAMC3	132936827	0.002000	0.14202	0.014000	0.15608	0.383000	0.30230	-0.166000	0.09954	-0.241000	0.09681	0.650000	0.86243	CTT		0.672	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133947006	C	T	133947006	3	4	188	1	0	0	0	0	1	0	0	0	8616	797	28	3	3275	3	LAMC3	9	133947006	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	3236572	133947006	7266425	30	13286											
MUC2	4583	broad.mit.edu	37	chr11	1094855	1094855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgaacgacacctactaCgcaccaggtactcaggctgt	10	8	9	14	2	1	1	1	1	0	0	2	2	2	1	3	2	4	3	3	2	4	3	rs561164943	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:1094855C>T	ENST00000441003.2	+	31	5970	c.5943C>T	c.(5941-5943)taC>taT	p.Y1981Y	MUC2_ENST00000333592.6_Silent_p.Y269Y|MUC2_ENST00000361558.6_Silent_p.Y119Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4343					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCTACTACGCACCAGGTA	0.607													C|||	2	0.000399361	8e-04	0	5008	,	,		18620	0		0	False		,,,				2504	0.001					uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5929-5931)taC>taT		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						163	172	169					11																	1094855		2118	4238	6356	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094855C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5943C>T	11.37:g.1094855C>T							p.Y1977Y	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	5958	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	2029					Q14878	Silent	SNP	ENST00000441003.2	37	c.5931C>T																																																																																					0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1094855	C	T	1094855	2	4	188	1	0	0	0	0	0	0	0	1	9975	547	19	1		1	MUC2	11	1094855	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08		1094855	133911661	31	13287											
SLC22A10	387775	broad.mit.edu	37	chr11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaatgcagaccctgcGtgtggctttggcatgtctgg	7	10	14	10	1	1	2	0	0	1	2	1	2	1	2	2	3	2	3	2	3	1	1	rs112720090	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:63071595G>A	ENST00000332793.6	+	8	1303	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_ENST00000544661.1_Missense_Mutation_p.V233M|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	434						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CAGACCCTGCGTGTGGCTTTG	0.453													G|||	6	0.00119808	0.0045	0	5008	,	,		17216	0		0	False		,,,				2504	0					uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1300-1302)cGt>cAt		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.		G	HIS/ARG	24,4194		1,22,2086	177	183	181		1301	1	0.1	11	dbSNP_132	181	2,8534		0,2,4266	yes	missense	SLC22A10	NM_001039752.3	29	1,24,6352	AA,AG,GG		0.0234,0.569,0.2039	probably-damaging	434/542	63071595	26,12728	2109	4268	6377	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63071595G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1301G>A	11.37:g.63071595G>A	ENSP00000327569:p.Arg434His					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	p.R434H	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			7	1509	+			434					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1301G>A	CCDS41661.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.26|10.26	1.301140|1.301140	0.23650|0.23650	0.00569|0.00569	2.34E-4|2.34E-4	ENSG00000184999|ENSG00000184999	ENST00000332793|ENST00000544661	T|T	0.74209|0.70399	-0.82|-0.48	3.05|3.05	0.999|0.999	0.19862|0.19862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.62097|0.62097	0.2400|0.2400	H|H	0.94542|0.94542	3.55|3.55	0.30645|0.30645	N|N	0.75608|0.75608	B|P	0.33345|0.44776	0.409|0.843	B|B	0.34931|0.31614	0.192|0.133	T|T	0.68002|0.68002	-0.5524|-0.5524	10|9	0.54805|0.56958	T|D	0.06|0.05	.|.	3.972|3.972	0.09457|0.09457	0.1358:0.0:0.6338:0.2305|0.1358:0.0:0.6338:0.2305	.|.	434|228	Q63ZE4|E9PJB1	S22AA_HUMAN|.	H|M	434|233	ENSP00000327569:R434H|ENSP00000445667:V233M	ENSP00000327569:R434H|ENSP00000433817:V228M	R|V	+|+	2|1	0|0	SLC22A10|SLC22A10	62828171|62828171	0.952000|0.952000	0.32445|0.32445	0.109000|0.109000	0.21407|0.21407	0.224000|0.224000	0.24922|0.24922	2.097000|2.097000	0.41748|0.41748	0.145000|0.145000	0.18977|0.18977	0.579000|0.579000	0.79373|0.79373	CGT|GTG		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		A	63071595	G	A	63071595	3	1	188	1	0	0	0	0	1	0	0	0	14441	1145	40	1	1331	1	SLC22A10	11	63071595	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	61976740	63071595	71934921	32	13288											
CABP4	57010	broad.mit.edu	37	chr11	67223870	67223870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgggctacatgcccacCgagatggagctcctggaggt	8	7	13	13	1	0	1	0	0	0	1	1	4	1	3	4	4	3	2	4	4	1	1	rs139927588		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:67223870C>T	ENST00000325656.5	+	3	575	c.498C>T	c.(496-498)acC>acT	p.T166T	CABP4_ENST00000438189.2_Silent_p.T61T	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	166	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACATGCCCACCGAGATGGAGC	0.652																																						uc001olo.3																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(496-498)acC>acT		Homo sapiens calcium binding protein 4 (CABP4), mRNA.		C		1,4399	2.1+/-5.4	0,1,2199	52	49	50		498	-8.1	0.4	11	dbSNP_134	50	0,8590		0,0,4295	no	coding-synonymous	CABP4	NM_145200.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		166/276	67223870	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223870C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.498C>T	11.37:g.67223870C>T						CABP4_uc001oln.3_Silent_p.T61T	p.T166T	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		2	575	+			166			EF-hand 2.		Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.498C>T	CCDS8166.1																																																																																				0.652	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			T	67223870	C	T	67223870	2	4	188	1	0	0	0	0	0	0	0	1	2533	639	23	2		2	CABP4	11	67223870	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	4152275	67223870	67782646	33	13289											
CACNB3	784	broad.mit.edu	37	chr12	49218469	49218469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggagatctgggaacccttCcagcctgagtgacattggca	10	8	12	11	0	1	3	0	2	1	1	2	5	2	4	3	3	2	1	3	3	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:49218469C>T	ENST00000301050.2	+	5	624	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CACNB3_ENST00000540990.1_Missense_Mutation_p.S129F|CACNB3_ENST00000547230.1_Missense_Mutation_p.S101F|CACNB3_ENST00000536187.2_Missense_Mutation_p.S141F|CACNB3_ENST00000547392.1_Missense_Mutation_p.S142F|CACNB3_ENST00000550168.1_3'UTR	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	142					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAACCCTTCCAGCCTGAGT	0.493																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(424-426)tCc>tTc		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						49	52	51					12																	49218469		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49218469C>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.425C>T	12.37:g.49218469C>T	ENSP00000301050:p.Ser142Phe					CACNB3_uc010slx.2_Missense_Mutation_p.S129F|CACNB3_uc010sly.2_Missense_Mutation_p.S129F|CACNB3_uc010slz.2_Missense_Mutation_p.S141F|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.S101F	p.S142F	NM_000725	NP_000716	P54284	CACB3_HUMAN			4	884	+			142					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.425C>T	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382423	0.61845	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000547230	D;D;D;D;T;T	0.83591	-1.65;-1.65;-1.74;-1.65;-1.18;0.77	5.67	5.67	0.87782	Src homology-3 domain (1);	0.057041	0.64402	D	0.000001	D	0.87759	0.6258	M	0.80183	2.485	0.50632	D	0.999885	P;P;P;P	0.41569	0.755;0.755;0.61;0.641	P;P;B;B	0.48141	0.568;0.568;0.076;0.365	D	0.88823	0.3300	10	0.66056	D	0.02	-14.2154	15.2535	0.73568	0.0:1.0:0.0:0.0	.	141;129;129;142	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	F	129;141;142;142;141;101	ENSP00000445495:S129F;ENSP00000444160:S141F;ENSP00000446529:S142F;ENSP00000301050:S142F;ENSP00000449497:S141F;ENSP00000448304:S101F	ENSP00000301050:S142F	S	+	2	0	CACNB3	47504736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	2.686000	0.91538	0.655000	0.94253	TCC		0.493	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			T	49218469	C	T	49218469	3	4	188	1	0	0	0	0	1	0	0	0	2554	855	30	3	443	3	CACNB3	12	49218469	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		49218469	84633426	34	13290											
TP53	7157	broad.mit.edu	37	chr17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacactatgtcgaaaaGtgtttctgtcatccaaatac	13	11	5	12	1	2	0	1	0	1	0	4	1	3	0	3	0	1	1	3	0	5	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:7578217G>A	ENST00000269305.4	-	6	821	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_ENST00000445888.2_Missense_Mutation_p.T211I|TP53_ENST00000359597.4_Missense_Mutation_p.T211I|TP53_ENST00000455263.2_Missense_Mutation_p.T211I|TP53_ENST00000413465.2_Missense_Mutation_p.T211I|TP53_ENST00000420246.2_Missense_Mutation_p.T211I|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.R209fs*35(2)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGTCGAAAAGTGTTTCTGTC	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		38	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.T211I(14)|p.T211T(9)|p.0?(8)|p.T211N(8)|p.T211fs*4(5)|p.?(5)|p.N210fs*37(4)|p.T211fs*5(3)|p.D207_R213delDDRNTFR(2)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.D208_V216delDRNTFRHSV(2)|p.N210S(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.T211S(2)|p.K164_P219del(1)|p.N210D(1)|p.E204_N210delEYLDDRN(1)|p.T211_F212insX(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.N210N(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.T211P(1)|p.R209fs*6(1)	biliary_tract(5)|central_nervous_system(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|large_intestine(3)|stomach(2)|oesophagus(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|urinary_tract(1)|liver(1)|skin(1)|lung(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(631-633)aCt>aTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							141	125	130					17																	7578217		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578217G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.632C>T	17.37:g.7578217G>A	ENSP00000269305:p.Thr211Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.3_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.2_Missense_Mutation_p.T172I|DL476358_uc021tph.1_5'Flank	p.T211I	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	826	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	211		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.632C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856746	0.97030	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99795	-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.88450	2.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.967;0.993;0.997;0.998;1.0	D;D;P;D;D;D;D	0.83275	0.996;0.992;0.866;0.953;0.992;0.99;0.992	D	0.97163	0.9839	10	0.87932	D	0	-10.3896	17.0767	0.86588	0.0:0.0:1.0:0.0	.	172;211;211;118;211;211;211	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	211;211;211;211;211;211;200;118;79;118;79	ENSP00000410739:T211I;ENSP00000352610:T211I;ENSP00000269305:T211I;ENSP00000398846:T211I;ENSP00000391127:T211I;ENSP00000391478:T211I;ENSP00000425104:T79I;ENSP00000423862:T118I	ENSP00000269305:T211I	T	-	2	0	TP53	7518942	1.000000	0.71417	0.118000	0.21660	0.884000	0.51177	7.961000	0.87903	2.702000	0.92279	0.655000	0.94253	ACT		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578217	G	A	7578217	3	1	188	1	0	0	0	0	1	0	0	0	16378	1029	36	3	662	3	TP53	17	7578217	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		7578217	73616993	35	13291											
DNAH9	1770	broad.mit.edu	37	chr17	11672470	11672470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgagtgagaccatccGtgtgtgctacttcatggagc	9	9	12	11	2	1	1	1	1	0	1	2	4	2	2	2	1	3	2	2	1	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:11672470G>A	ENST00000262442.4	+	38	7444	c.7376G>A	c.(7375-7377)cGt>cAt	p.R2459H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2459H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2459	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGACCATCCGTGTGTGCTAC	0.612																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7375-7377)cGt>cAt		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							100	95	97					17																	11672470		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11672470G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7376G>A	17.37:g.11672470G>A	ENSP00000262442:p.Arg2459His					DNAH9_uc010coo.3_Missense_Mutation_p.R1753H	p.R2459H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	37	7444	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2459			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7376G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190220	0.78789	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.51071	0.72;0.72	5.77	5.77	0.91146	.	0.153660	0.43919	D	0.000507	D	0.83783	0.5329	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90643	0.4576	10	0.87932	D	0	.	19.9873	0.97353	0.0:0.0:1.0:0.0	.	2459	Q9NYC9	DYH9_HUMAN	H	2459;2459;1041	ENSP00000262442:R2459H;ENSP00000414874:R2459H	ENSP00000262442:R2459H	R	+	2	0	DNAH9	11613195	1.000000	0.71417	0.954000	0.39281	0.358000	0.29455	6.730000	0.74780	2.732000	0.93576	0.655000	0.94253	CGT		0.612	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11672470	G	A	11672470	3	1	188	1	0	0	0	0	1	0	0	0	4608	1145	40	1	7526	1	DNAH9	17	11672470	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	4094253	11672470	69522740	36	13292											
SMCR7	125170	broad.mit.edu	37	chr17	18167560	18167560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgatccggcccagcAtggcctcggaggagctgctg	5	7	16	13	2	0	1	0	1	0	0	2	3	1	3	4	5	4	3	4	5	0	0			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:18167560A>G	ENST00000323019.4	+	4	1058	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.M294V	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	283					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CCGGCCCAGCATGGCCTCGGA	0.667																																						uc010vxq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(880-882)Atg>Gtg		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							35	36	36					17																	18167560		2203	4300	6503	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167560A>G	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.847A>G	17.37:g.18167560A>G	ENSP00000323591:p.Met283Val					SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.M283V	p.M294V	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN			3	906	+	all_neural(463;0.228)		283					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.880A>G	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.634968	0.00114	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.09163	3.01;3.01	5.45	2.17	0.27698	.	0.340781	0.31922	N	0.006860	T	0.01835	0.0058	N	0.00317	-1.655	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.44802	-0.9304	10	0.02654	T	1	-17.6844	5.4208	0.16400	0.292:0.1357:0.5723:0.0	.	283	Q96C03	MID49_HUMAN	V	283;294	ENSP00000323591:M283V;ENSP00000379057:M294V	ENSP00000323591:M283V	M	+	1	0	SMCR7	18108285	0.992000	0.36948	0.381000	0.26106	0.026000	0.11368	2.112000	0.41892	0.264000	0.21851	-1.601000	0.00813	ATG		0.667	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		G	18167560	A	G	18167560	3	3	188	1	0	0	0	0	1	0	0	0	14790	217	8	4	894	4	SMCR7	17	18167560	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	6495090	18167560	63027650	37	13293											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799291	20799291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagactgccggcttcggagAccccccagcccctccccgct	5	6	10	20	3	0	2	0	0	0	2	2	3	1	2	8	2	2	3	8	2	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:20799291A>C	ENST00000327925.5	-	1	162	c.43T>G	c.(43-45)Tct>Gct	p.S15A	RP11-344E13.3_ENST00000417232.2_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	15										large_intestine(3)|lung(3)|skin(1)	7						GGCTTCGGAGACCCCCCAGCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gyf.3																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(43-45)Tct>Gct		Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.							27	29	29					17																	20799291		2203	4300	6503	SO:0001583	missense	339184							g.chr17:20799291A>C		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.43T>G	17.37:g.20799291A>C	ENSP00000328054:p.Ser15Ala		OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	p.S15A	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			0	163	-			15						Missense_Mutation	SNP	ENST00000327925.5	37	c.43T>G	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	a	12.35	1.912783	0.33721	.	.	ENSG00000205212	ENST00000327925	T	0.27256	1.68	0.87	0.87	0.19102	.	.	.	.	.	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	P	0.41597	0.756	P	0.45037	0.467	T	0.14727	-1.0462	9	0.72032	D	0.01	.	4.0705	0.09880	1.0:0.0:0.0:0.0	.	15	Q6NUI1	C144L_HUMAN	A	15	ENSP00000328054:S15A	ENSP00000328054:S15A	S	-	1	0	CCDC144NL	20739883	0.014000	0.17966	0.002000	0.10522	0.084000	0.17831	0.271000	0.18626	0.674000	0.31244	0.228000	0.17796	TCT		0.647	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		C	20799291	A	C	20799291	3	2	188	1	0	0	0	0	1	0	0	0	2779	275	10	5	638	5	CCDC144NL	17	20799291	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	2631731	20799291	60395919	38	13294											
KIF2B	84643	broad.mit.edu	37	chr17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagggcatctacgtggCgatccagcgcagtgacaagc	11	5	13	12	3	1	2	0	1	1	1	2	3	2	2	2	2	3	2	2	2	3	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:51900492C>T	ENST00000268919.4	+	1	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCTACGTGGCGATCCAGCGC	0.552																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(97-99)gCg>gTg		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							127	105	112					17																	51900492		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900492C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.98C>T	17.37:g.51900492C>T	ENSP00000268919:p.Ala33Val						p.A33V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	254	+			33					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.98C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	5.396	0.258268	0.10239	.	.	ENSG00000141200	ENST00000268919	T	0.74002	-0.8	4.96	-0.795	0.10915	.	0.501568	0.16531	N	0.210347	T	0.50599	0.1625	L	0.39898	1.24	0.25215	N	0.98994	P	0.44044	0.825	B	0.34489	0.184	T	0.44877	-0.9299	10	0.25751	T	0.34	.	0.765	0.01013	0.2039:0.3953:0.1365:0.2643	.	33	Q8N4N8	KIF2B_HUMAN	V	33	ENSP00000268919:A33V	ENSP00000268919:A33V	A	+	2	0	KIF2B	49255491	0.988000	0.35896	0.021000	0.16686	0.016000	0.09150	2.721000	0.47260	0.091000	0.17302	-0.137000	0.14449	GCG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900492	C	T	51900492	3	4	188	1	0	0	0	0	1	0	0	0	8298	768	27	1	100	1	KIF2B	17	51900492	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	31101201	51900492	29294718	39	13295											
ENPP7	339221	broad.mit.edu	37	chr17	77705154	77705154	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacttcaccctggtcaccGgtgagtactgccctgtgacg	6	9	11	15	2	2	2	2	2	0	0	2	2	2	2	4	2	2	1	4	2	1	2	rs150916536		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:77705154G>A	ENST00000328313.5	+	1	474	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGTCACCGGTGAGTACTG	0.647																																						uc002jxa.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.e1+1		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.		G	SER/GLY	0,4404		0,0,2202	28	26	27		253	2.4	0.6	17	dbSNP_134	27	2,8598	1.2+/-3.3	0,2,4298	no	missense-near-splice	ENPP7	NM_178543.3	56	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	85/459	77705154	2,13002	2202	4300	6502	SO:0001630	splice_region_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705154G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.253+1G>A	17.37:g.77705154G>A							p.G85_splice	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	273	+			85						Missense_Mutation	SNP	ENST00000328313.5	37	c.253_splice	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655060	0.67472	0.0	2.33E-4	ENSG00000182156	ENST00000328313	D	0.97066	-4.23	4.36	2.37	0.29283	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.115885	0.64402	D	0.000016	D	0.98741	0.9577	H	0.96970	3.915	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98266	1.0501	10	0.87932	D	0	-33.4291	9.6104	0.39659	0.1721:0.0:0.8279:0.0	.	85	Q6UWV6	ENPP7_HUMAN	S	85	ENSP00000332656:G85S	ENSP00000332656:G85S	G	+	1	0	ENPP7	75319749	1.000000	0.71417	0.623000	0.29173	0.355000	0.29361	7.642000	0.83385	0.474000	0.27392	0.561000	0.74099	GGC		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543	Missense_Mutation	A	77705154	G	A	77705154	5	1	188	1	0	0	0	0	0	0	1	0	5135	1130	39	2	255	2	ENPP7	17	77705154	Splice_Site	SNP	G	TCGA-27-1836-01A-01D-1494-08	25804662	77705154	3490056	40	13296											
CELF5	60680	broad.mit.edu	37	chr19	3282231	3282231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcgccgtcagcctcaaCgggctgcctgccacacccat	8	6	10	17	3	2	0	2	0	0	0	2	0	2	0	5	2	4	1	5	2	2	1	rs200411650		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:3282231C>T	ENST00000292672.2	+	7	895	c.858C>T	c.(856-858)aaC>aaT	p.N286N	CELF5_ENST00000541430.2_Silent_p.N286N	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	286					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCAGCCTCAACGGGCTGCCTG	0.647													C|||	1	0.000199681	0	0	5008	,	,		18102	0		0	False		,,,				2504	0.001					uc002lxm.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(856-858)aaC>aaT		Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	50	44	46		858,858	-6.2	0.8	19		46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CELF5	NM_001172673.1,NM_021938.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	286/410,286/486	3282231	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282231C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.858C>T	19.37:g.3282231C>T						CELF5_uc010dtj.2_Silent_p.N286N|CELF5_uc002lxl.2_Silent_p.N286N|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	p.N286N	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			6	895	+			286					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.858C>T	CCDS12106.1																																																																																				0.647	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		T	3282231	C	T	3282231	2	4	188	1	0	0	0	0	0	0	0	1	3219	535	19	1		1	CELF5	19	3282231	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08		3282231	55846752	41	13297											
OR7A10	390892	broad.mit.edu	37	chr19	14951969	14951969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgagaggtgagatgcacAggtggaaaatgccttatact	14	9	12	6	0	0	2	0	2	0	2	0	5	0	3	1	3	4	1	1	3	5	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:14951969A>T	ENST00000248058.1	-	1	720	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGATGCACAGGTGGAAAAT	0.488																																						uc002mzx.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(721-723)Tgt>Agt		Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.							103	86	92					19																	14951969		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14951969A>T		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.721T>A	19.37:g.14951969A>T	ENSP00000248058:p.Cys241Ser						p.C241S	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			0	721	-	Ovarian(108;0.203)		241					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.721T>A	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	a	14.74	2.626017	0.46840	.	.	ENSG00000127515	ENST00000248058	T	0.00369	7.74	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000662	T	0.01353	0.0044	H	0.98901	4.365	0.31856	N	0.621643	P	0.51449	0.945	P	0.57152	0.814	T	0.00770	-1.1573	10	0.72032	D	0.01	.	9.0825	0.36561	1.0:0.0:0.0:0.0	.	241	O76100	OR7AA_HUMAN	S	241	ENSP00000248058:C241S	ENSP00000248058:C241S	C	-	1	0	OR7A10	14812969	1.000000	0.71417	0.592000	0.28758	0.500000	0.33767	5.885000	0.69736	1.301000	0.44836	0.113000	0.15668	TGT		0.488	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14951969	A	T	14951969	3	4	188	1	0	0	0	0	1	0	0	0	11214	188	7	5	212	5	OR7A10	19	14951969	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	11669738	14951969	44177014	42	13298											
ZNF208	7757	broad.mit.edu	37	chr19	22156724	22156724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttgccgcattcttcaCatttgtagggtttctctcca	6	16	8	11	1	3	0	1	0	2	0	5	0	4	0	2	2	1	4	2	2	1	6			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:22156724C>T	ENST00000397126.4	-	4	1260	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCATTCTTCACATTTGTAGGG	0.383																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1111-1113)tGt>tAt		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							38	41	40					19																	22156724		2067	4220	6287	SO:0001583	missense	7757							g.chr19:22156724C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1112G>A	19.37:g.22156724C>T	ENSP00000380315:p.Cys371Tyr					ZNF208_uc002nqo.1_Intron	p.C371Y	NM_007153	NP_009084					3	1261	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1112G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85088	-1.94	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91109	0.7201	.	.	.	0.29971	N	0.818573	D	0.89917	1.0	D	0.91635	0.999	D	0.86400	0.1741	8	0.87932	D	0	.	11.9818	0.53123	0.0:1.0:0.0:0.0	.	371	O43345	ZN208_HUMAN	Y	371	ENSP00000380315:C371Y	ENSP00000380315:C371Y	C	-	2	0	ZNF208	21948564	0.297000	0.24408	0.004000	0.12327	0.033000	0.12548	2.129000	0.42055	1.034000	0.39945	0.306000	0.20318	TGT		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22156724	C	T	22156724	3	4	188	1	0	0	0	0	1	0	0	0	17763	478	17	3	2734	3	ZNF208	19	22156724	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	7204755	22156724	36972259	43	13299											
KLK6	5653	broad.mit.edu	37	chr19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagagtttggctgggcGtgccaggcgcaacagcatga	9	8	15	9	2	1	2	1	1	0	1	1	3	1	2	1	3	3	4	1	3	1	2	rs200194649		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:51466663G>A	ENST00000376851.3	-	4	779	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	KLK6_ENST00000391808.1_Missense_Mutation_p.R7C|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.R7C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R114C|KLK6_ENST00000594641.1_Missense_Mutation_p.R114C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612													G|||	1	0.000199681	0	0	5008	,	,		19103	0.001		0	False		,,,				2504	0					uc002puh.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(367-369)Cgc>Tgc		Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.							90	63	72					19																	51466663		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466663G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.340C>T	19.37:g.51466663G>A	ENSP00000366047:p.Arg114Cys					KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R114C|KLK6_uc002puj.3_Missense_Mutation_p.R7C|KLK6_uc010ycn.2_Missense_Mutation_p.R7C|KLK6_uc002pul.3_Missense_Mutation_p.R114C|KLK6_uc002pum.3_Missense_Mutation_p.R7C	p.R123C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	2	432	-		all_neural(266;0.026)	114			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.367C>T	CCDS12811.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	21.4	4.142177	0.77775	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.49	2.31	0.28768	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.587110	0.03919	N	0.283130	D	0.91489	0.7313	L	0.58354	1.805	0.09310	N	0.999998	B;D	0.69078	0.34;0.997	B;P	0.56648	0.2;0.803	T	0.76410	-0.2969	10	0.87932	D	0	.	7.2478	0.26131	0.0927:0.0:0.7398:0.1674	.	114;7	Q92876;Q92876-2	KLK6_HUMAN;.	C	114;114;7;7	ENSP00000309148:R114C;ENSP00000366047:R114C;ENSP00000375684:R7C;ENSP00000409241:R7C	ENSP00000309148:R114C	R	-	1	0	KLK6	56158475	0.000000	0.05858	0.001000	0.08648	0.637000	0.38172	-0.588000	0.05774	0.498000	0.27948	0.486000	0.48141	CGC		0.612	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		A	51466663	G	A	51466663	3	1	188	1	0	0	0	0	1	0	0	0	8408	1145	40	1	406	1	KLK6	19	51466663	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	29309939	51466663	7662320	44	13300											
NLRP11	204801	broad.mit.edu	37	chr19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaggcatatggtgcGtcaacttttccgggtcacgg	12	9	11	9	3	2	0	2	0	0	0	3	0	3	0	1	4	3	1	1	4	5	3	rs374796362		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:56320357G>A	ENST00000589093.1	-	3	1712	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_ENST00000589824.2_Missense_Mutation_p.T540M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T441M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T540M|NLRP11_ENST00000443188.1_Missense_Mutation_p.T540M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.T540M(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448																																						uc010ygf.2																			2	Substitution - Missense(2)	p.T540M(4)	large_intestine(1)|lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1618-1620)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.		G	MET/THR	0,4406		0,0,2203	163	151	155		1619	-4	0	19		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	540/1034	56320357	1,13005	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320357G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1619C>T	19.37:g.56320357G>A	ENSP00000466285:p.Thr540Met					NLRP11_uc002qlz.3_Missense_Mutation_p.T441M|NLRP11_uc002qmb.3_Missense_Mutation_p.T441M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	p.T540M	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	2330	-		Colorectal(82;0.0002)	540					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1619C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	2.480	-0.319809	0.05386	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74002	-0.8;-0.74	1.99	-3.99	0.04069	.	.	.	.	.	T	0.51176	0.1659	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.17098	0.007;0.017	T	0.24870	-1.0148	9	0.37606	T	0.19	.	0.2614	0.00219	0.3264:0.2693:0.1804:0.224	.	540;540	P59045;P59045-2	NAL11_HUMAN;.	M	540	ENSP00000409898:T540M;ENSP00000353251:T540M	ENSP00000353251:T540M	T	-	2	0	NLRP11	61012169	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.189000	0.00277	-1.949000	0.01031	-1.153000	0.01818	ACG		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		A	56320357	G	A	56320357	3	1	188	1	0	0	0	0	1	0	0	0	10473	1145	40	1	1514	1	NLRP11	19	56320357	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	4853694	56320357	2808626	45	13301											
DIDO1	11083	broad.mit.edu	37	chr20	61512320	61512320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagggcgccgcaaggcGgtgtgggcagcagcaccctc	6	4	17	14	3	0	0	0	0	0	0	1	0	0	0	2	4	3	6	2	4	1	0			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr20:61512320G>A	ENST00000266070.4	-	16	5313	c.4988C>T	c.(4987-4989)cCg>cTg	p.P1663L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1663L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1663					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGCAAGGCGGTGTGGGCAG	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4987-4989)cCg>cTg		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							11	13	12					20																	61512320		2175	4250	6425	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512320G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4988C>T	20.37:g.61512320G>A	ENSP00000266070:p.Pro1663Leu					DIDO1_uc002yds.2_Missense_Mutation_p.P1663L	p.P1663L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN			15	5300	-	Breast(26;5.68e-08)		1663					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4988C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488224	0.64074	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.23950	1.88;1.88	5.31	5.31	0.75309	.	0.000000	0.42821	D	0.000644	T	0.35941	0.0949	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	P	0.53689	0.732	T	0.12630	-1.0540	10	0.87932	D	0	-26.6638	18.9695	0.92709	0.0:0.0:1.0:0.0	.	1663	Q9BTC0	DIDO1_HUMAN	L	1663	ENSP00000266070:P1663L;ENSP00000378752:P1663L	ENSP00000266070:P1663L	P	-	2	0	DIDO1	60982765	1.000000	0.71417	0.443000	0.26883	0.145000	0.21501	6.992000	0.76238	2.456000	0.83038	0.655000	0.94253	CCG		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61512320	G	A	61512320	3	1	188	1	0	0	0	0	1	0	0	0	4522	1116	39	2	1738	2	DIDO1	20	61512320	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		61512320	1513200	46	13302											
PLA2G3	50487	broad.mit.edu	37	chr22	31534350	31534350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagaaggccacgcccaCgatgtccgagatggagtcgt	10	7	14	10	4	0	3	0	1	0	2	2	6	1	4	3	2	0	1	3	2	2	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:31534350C>T	ENST00000215885.3	-	3	946	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	232	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCACGCCCACGATGTCCGAG	0.617																																						uc003aka.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(694-696)Gtg>Atg		Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.							82	64	70					22																	31534350		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534350C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.694G>A	22.37:g.31534350C>T	ENSP00000215885:p.Val232Met						p.V232M	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			2	823	-			232			Phospholipase A2-like.		O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.694G>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010016	0.54361	.	.	ENSG00000100078	ENST00000215885	T	0.35605	1.3	5.32	3.23	0.37069	Phospholipase A2 (3);	0.120957	0.56097	N	0.000038	T	0.31389	0.0795	L	0.48260	1.515	0.34462	D	0.701853	D	0.57571	0.98	P	0.45639	0.488	T	0.41716	-0.9493	10	0.28530	T	0.3	-1.9492	8.2113	0.31486	0.0:0.6852:0.0:0.3148	.	232	Q9NZ20	PA2G3_HUMAN	M	232	ENSP00000215885:V232M	ENSP00000215885:V232M	V	-	1	0	PLA2G3	29864350	0.118000	0.22208	0.752000	0.31206	0.968000	0.65278	0.525000	0.22956	0.721000	0.32231	0.561000	0.74099	GTG		0.617	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		T	31534350	C	T	31534350	3	4	188	1	0	0	0	0	1	0	0	0	12000	536	19	1	855	1	PLA2G3	22	31534350	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		31534350	19770216	47	13303											
TTLL12	23170	broad.mit.edu	37	chr22	43575872	43575872	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtccaggtccctcaggggCcacagcagcgtgtaggccac	7	6	14	14	1	1	0	1	0	0	0	3	0	3	0	4	4	2	2	4	4	1	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:43575872C>T	ENST00000216129.6	-	4	744	c.681G>A	c.(679-681)tgG>tgA	p.W227*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	227					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCTCAGGGGCCACAGCAGCG	0.672																																						uc003bdq.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(679-681)tgG>tgA		Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.							44	40	41					22																	43575872		2203	4300	6503	SO:0001587	stop_gained	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575872C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.681G>A	22.37:g.43575872C>T	ENSP00000216129:p.Trp227*						p.W227*	NM_015140	NP_055955	Q14166	TTL12_HUMAN			3	743	-		Ovarian(80;0.221)|Glioma(61;0.222)	227					Q20WK5|Q9UGU3	Nonsense_Mutation	SNP	ENST00000216129.6	37	c.681G>A	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034939	0.93575	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7125	19.5034	0.95105	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000216129:W227X	W	-	3	0	TTLL12	41905816	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.359000	0.79477	2.593000	0.87608	0.655000	0.94253	TGG		0.672	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		T	43575872	C	T	43575872	4	4	188	1	0	0	0	0	0	1	0	0	16722	740	26	3	1297	3	TTLL12	22	43575872	Nonsense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	12041522	43575872	7728694	48	13304											
CELSR1	9620	broad.mit.edu	37	chr22	46931874	46931874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgttgagctggaagacGtcccacgcgccccccaacac	8	6	9	18	4	1	2	0	1	1	1	3	3	2	3	4	1	2	2	4	1	2	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:46931874G>A	ENST00000262738.3	-	1	1193	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Silent_p.D398D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	398	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGGAAGACGTCCCACGCGC	0.682																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1192-1194)gaC>gaT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							25	23	24					22																	46931874		2201	4297	6498	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931874G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1194C>T	22.37:g.46931874G>A							p.D398D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	0	1194	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	398			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.1194C>T	CCDS14076.1																																																																																				0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46931874	G	A	46931874	2	1	188	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46931874	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	3356002	46931874	4372692	49	13305											
PPEF1	5475	broad.mit.edu	37	chrX	18797156	18797156	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctcagagaggaacccgtAtgtttttaatggtgactttg	9	13	10	9	1	1	2	1	1	0	1	1	4	1	3	3	2	1	2	3	2	3	5			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:18797156A>T	ENST00000361511.4	+	10	1081	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	PPEF1_ENST00000359763.6_Missense_Mutation_p.Y143F|PPEF1_ENST00000544635.1_Missense_Mutation_p.Y131F|PPEF1_ENST00000349874.5_Missense_Mutation_p.Y196F|PPEF1_ENST00000543630.1_Missense_Mutation_p.Y196F	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	196	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGGAACCCGTATGTTTTTAAT	0.408																																						uc004cyq.3																			0		p.P195Q(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(586-588)tAt>tTt		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							154	158	156					X																	18797156		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18797156A>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.587A>T	X.37:g.18797156A>T	ENSP00000354871:p.Tyr196Phe					PPEF1_uc004cyp.3_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.3_Missense_Mutation_p.Y196F|PPEF1_uc004cys.3_Missense_Mutation_p.Y196F|PPEF1_uc011mja.2_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.2_Missense_Mutation_p.Y140F	p.Y196F	NM_006240	NP_006231	O14829	PPE1_HUMAN			9	1068	+	Hepatocellular(33;0.183)		196			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.587A>T	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.752824	0.49362	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.0	5.0	0.66597	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.52532	D	0.000080	D	0.91828	0.7414	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.996	D	0.92643	0.6126	10	0.66056	D	0.02	-20.6946	13.9239	0.63950	1.0:0.0:0.0:0.0	.	196;196;196	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	F	196;143;196;196;131	ENSP00000354871:Y196F;ENSP00000352806:Y143F;ENSP00000341892:Y196F;ENSP00000437785:Y196F;ENSP00000441289:Y131F	ENSP00000341892:Y196F	Y	+	2	0	PPEF1	18707077	1.000000	0.71417	0.032000	0.17829	0.048000	0.14542	8.907000	0.92634	1.664000	0.50801	0.430000	0.28490	TAT		0.408	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		T	18797156	A	T	18797156	3	4	188	1	0	0	0	0	1	0	0	0	12307	449	16	5	613	5	PPEF1	23	18797156	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08		18797156	136473404	50	13306											
GPR64	10149	broad.mit.edu	37	chrX	19025360	19025360	+	Frame_Shift_Del	DEL	G	G	-																															ggcctctccccacctggctcGggttgatgtgctttaatgtg																										TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:19025360delG	ENST00000379869.3	-	20	1845	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	GPR64_ENST00000340581.3_Intron|GPR64_ENST00000357991.3_Frame_Shift_Del_p.P558fs|GPR64_ENST00000379873.2_Frame_Shift_Del_p.P561fs|GPR64_ENST00000360279.4_Frame_Shift_Del_p.P539fs|GPR64_ENST00000379876.1_Frame_Shift_Del_p.P537fs|GPR64_ENST00000379878.3_Frame_Shift_Del_p.P545fs|GPR64_ENST00000357544.3_Frame_Shift_Del_p.P531fs|GPR64_ENST00000356606.4_Frame_Shift_Del_p.P547fs|GPR64_ENST00000354791.3_Frame_Shift_Del_p.P545fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	561					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CACCTGGCTCGGGTTGATGTG	0.502																																						uc004cyx.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1681-1683)ccgfs		Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.							237	162	187					X																	19025360		2203	4300	6503	SO:0001589	frameshift_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19025360delG	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1682delC	X.37:g.19025360delG	ENSP00000369198:p.Pro561fs					GPR64_uc004cze.3_Frame_Shift_Del_p.P531fs|GPR64_uc004cza.3_Frame_Shift_Del_p.P539fs|GPR64_uc004czf.3_Frame_Shift_Del_p.P523fs|GPR64_uc004cyy.3_Frame_Shift_Del_p.P558fs|GPR64_uc004czc.3_Frame_Shift_Del_p.P545fs|GPR64_uc004cyz.3_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.3_Frame_Shift_Del_p.P561fs|GPR64_uc004czd.3_Frame_Shift_Del_p.P537fs|GPR64_uc004cyw.3_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.3_Intron	p.P561fs	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			19	1924	-	Hepatocellular(33;0.183)		561					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Del	DEL	ENST00000379869.3	37	c.1682delC	CCDS43923.1																																																																																				0.502	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			-	19025360	G	-	19025360	7	5	188	1	0	1	0	1	0	0	0	0	6705	1116	39	0	1411	0	GPR64	23	19025360	Frame_Shift_Del	DEL	G	TCGA-27-1836-01A-01D-1494-08	228204	19025360	136245200	51	13307											
NXF5	55998	broad.mit.edu	37	chrX	101096651	101096651	+	Frame_Shift_Del	DEL	G	G	-																															gccctcagcacacaccttttGgttctcatcatcataaatct																										TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:101096651delG	ENST00000361708.2	-	5	594	c.235delC	c.(235-237)caafs	p.Q79fs	NXF5_ENST00000537026.1_Frame_Shift_Del_p.Q79fs|NXF5_ENST00000473265.2_Frame_Shift_Del_p.Q79fs			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	79	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACACCTTTTGGTTCTCATCA	0.488																																						uc011mrk.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(235-237)caafs		Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.							149	123	131					X																	101096651		2203	4300	6503	SO:0001589	frameshift_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096651delG	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.235delC	X.37:g.101096651delG	ENSP00000355286:p.Gln79fs					NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	p.Q79fs	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			4	595	-			79			RRM.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Frame_Shift_Del	DEL	ENST00000361708.2	37	c.235delC																																																																																					0.488	NXF5-201	KNOWN	basic	protein_coding	protein_coding				-	101096651	G	-	101096651	7	5	188	1	0	1	0	1	0	0	0	0	10786	1357	47	0	910	0	NXF5	23	101096651	Frame_Shift_Del	DEL	G	TCGA-27-1836-01A-01D-1494-08	82071291	101096651	54173909	52	13308											
F8	2157	broad.mit.edu	37	chrX	154159916	154159916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggtcatgcctctgttccGaaagtctgagttgtggcacc	6	11	13	11	2	3	1	1	1	2	0	4	2	4	1	3	3	1	3	3	3	1	2	rs137852435		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:154159916G>A	ENST00000360256.4	-	14	2349	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	717	F5/8 type A 2.|Plastocyanin-like 4.		R -> L (in HEMA; mild). {ECO:0000269|PubMed:8759905}.|R -> W (in HEMA; mild). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:8759905}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTCTGTTCCGAAAGTCTGAG	0.423																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM920257	F8	M	rs137852435	c.(2149-2151)Cgg>Tgg		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						67	62	63					X																	154159916		2202	4298	6500	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159916G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2149C>T	X.37:g.154159916G>A	ENSP00000353393:p.Arg717Trp						p.R717W	NM_000132	NP_000123	P00451	FA8_HUMAN			13	2320	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		717		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).	F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2149C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542576	0.65198	.	.	ENSG00000185010	ENST00000360256	D	0.98762	-5.12	5.37	4.42	0.53409	Cupredoxin (2);	0.116572	0.64402	D	0.000008	D	0.98673	0.9555	M	0.69823	2.125	0.37539	D	0.918235	D	0.89917	1.0	D	0.91635	0.999	D	0.99899	1.1155	10	0.66056	D	0.02	-16.6319	8.8773	0.35354	0.0:0.0:0.6525:0.3475	.	717	P00451	FA8_HUMAN	W	717	ENSP00000353393:R717W	ENSP00000353393:R717W	R	-	1	2	F8	153813110	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.248000	0.51430	2.240000	0.73641	0.422000	0.28245	CGG		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154159916	G	A	154159916	3	1	188	1	0	0	0	0	1	0	0	0	5350	1057	37	2	4986	2	F8	23	154159916	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	53063265	154159916	1110644	53	13309											
CYP4X1	260293	broad.mit.edu	37	chr1	47501571	47501571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatataatcatgaaatgcGctttcagcaaggagaccaac	15	9	9	8	1	2	2	2	1	0	1	2	4	2	3	1	2	3	2	1	2	5	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:47501571G>A	ENST00000371901.3	+	5	836	c.586G>A	c.(586-588)Gct>Act	p.A196T	CYP4X1_ENST00000538609.1_Missense_Mutation_p.A195T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATGAAATGCGCTTTCAGCAA	0.428																																						uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(586-588)Gct>Act		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.							109	98	102					1																	47501571		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47501571G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.586G>A	1.37:g.47501571G>A	ENSP00000360968:p.Ala196Thr					CYP4X1_uc001cqr.3_Missense_Mutation_p.A195T|CYP4X1_uc001cqs.3_Missense_Mutation_p.A131T	p.A196T	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			4	836	+			196					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.586G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069891	0.76301	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.69561	-0.41;-0.41	5.91	1.58	0.23477	.	0.307029	0.34386	N	0.004012	T	0.74566	0.3733	M	0.65677	2.01	0.40746	D	0.98287	D;D	0.76494	0.964;0.999	P;P	0.62813	0.668;0.907	T	0.72861	-0.4164	10	0.40728	T	0.16	.	11.022	0.47724	0.2509:0.0:0.7491:0.0	.	196;195	Q8N118;G3V1U1	CP4X1_HUMAN;.	T	195;196	ENSP00000445965:A195T;ENSP00000360968:A196T	ENSP00000360968:A196T	A	+	1	0	CYP4X1	47274158	1.000000	0.71417	0.609000	0.28983	0.912000	0.54170	2.297000	0.43593	0.280000	0.22209	-0.216000	0.12614	GCT		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		A	47501571	G	A	47501571	3	1	189	1	0	0	0	0	1	0	0	0	4193	1087	38	1	604	1	CYP4X1	1	47501571	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08		47501571	201749050	1	13310											
SETDB1	9869	broad.mit.edu	37	chr1	150936730	150936730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcttcagaagaatcCgggctgggacagaacttact	10	11	9	11	1	3	3	1	0	2	3	5	4	5	4	2	2	2	1	2	2	4	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:150936730C>T	ENST00000271640.5	+	22	3956	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W	SETDB1_ENST00000368969.4_Missense_Mutation_p.R1255W|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_3'UTR|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1256	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAGAATCCGGGCTGGGAC	0.507																																						uc001evu.2																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3766-3768)Cgg>Tgg		Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.							107	88	95					1																	150936730		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936730C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3766C>T	1.37:g.150936730C>T	ENSP00000271640:p.Arg1256Trp					SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	p.R1256W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		21	3956	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1256			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3766C>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794301	0.90453	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.82711	-1.64;-1.64	4.93	4.93	0.64822	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88209	0.2889	10	0.87932	D	0	.	17.9225	0.88972	0.0:1.0:0.0:0.0	.	1255;1256	Q15047-3;Q15047	.;SETB1_HUMAN	W	1256;1255	ENSP00000271640:R1256W;ENSP00000357965:R1255W	ENSP00000271640:R1256W	R	+	1	2	SETDB1	149203354	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.502000	0.81614	2.565000	0.86533	0.462000	0.41574	CGG		0.507	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			T	150936730	C	T	150936730	3	4	189	1	0	0	0	0	1	0	0	0	14138	643	23	2	3848	2	SETDB1	1	150936730	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	103435159	150936730	98313891	2	13311											
FDPS	2224	broad.mit.edu	37	chr1	155288033	155288033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaccgcctgctgaagctctAttgccgggagcagccctatt	7	10	10	14	2	1	1	0	1	1	0	1	2	1	2	4	1	6	3	4	1	4	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:155288033A>G	ENST00000356657.6	+	6	797	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.Y146C|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.Y212C	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	212					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGAAGCTCTATTGCCGGGAG	0.552																																						uc001fkc.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(634-636)tAt>tGt		Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						76	73	74					1																	155288033		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155288033A>G	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.635A>G	1.37:g.155288033A>G	ENSP00000349078:p.Tyr212Cys					FDPS_uc021paw.1_Missense_Mutation_p.Y146C|FDPS_uc001fkd.2_Missense_Mutation_p.Y146C|FDPS_uc021pax.1_Missense_Mutation_p.Y41C|FDPS_uc001fke.2_Missense_Mutation_p.Y212C|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	p.Y212C	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		5	854	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		212					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.635A>G	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108229	0.56291	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63580	-0.05;-0.05;-0.05	3.75	3.75	0.43078	Terpenoid synthase (2);	0.000000	0.35291	N	0.003320	T	0.46444	0.1393	M	0.62209	1.925	0.46241	D	0.998945	B	0.26081	0.141	B	0.28991	0.097	T	0.59198	-0.7499	10	0.87932	D	0	-2.2949	10.8145	0.46567	1.0:0.0:0.0:0.0	.	212	P14324	FPPS_HUMAN	C	146;212;212	ENSP00000391755:Y146C;ENSP00000357340:Y212C;ENSP00000349078:Y212C	ENSP00000349078:Y212C	Y	+	2	0	FDPS	153554657	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.817000	0.62650	1.932000	0.55993	0.383000	0.25322	TAT		0.552	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		G	155288033	A	G	155288033	3	3	189	1	0	0	0	0	1	0	0	0	5803	449	16	4	653	4	FDPS	1	155288033	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	4351303	155288033	93962588	3	13312											
TPR	7175	broad.mit.edu	37	chr1	186310460	186310460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttattggtctccataactAcattcattgtttcagttttc	8	21	4	8	0	3	0	2	0	1	0	5	0	3	0	1	1	2	2	1	1	3	10			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:186310460A>G	ENST00000367478.4	-	28	4108	c.3812T>C	c.(3811-3813)gTa>gCa	p.V1271A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1271	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCCATAACTACATTCATTGT	0.343			T	NTRK1	papillary thyroid																																	uc001grv.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(3811-3813)gTa>gCa		Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.							180	155	162					1																	186310460		1858	4109	5967	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186310460A>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3812T>C	1.37:g.186310460A>G	ENSP00000356448:p.Val1271Ala					MIR548F1_uc021pgf.1_Intron	p.V1271A	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	27	4109	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1271					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3812T>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477761	0.44044	.	.	ENSG00000047410	ENST00000367478	T	0.21191	2.02	4.94	4.94	0.65067	.	0.128764	0.53938	D	0.000058	T	0.08582	0.0213	N	0.01242	-0.935	0.43719	D	0.996197	B	0.26483	0.15	B	0.24848	0.056	T	0.28650	-1.0037	10	0.31617	T	0.26	.	14.6143	0.68537	1.0:0.0:0.0:0.0	.	1271	P12270	TPR_HUMAN	A	1271	ENSP00000356448:V1271A	ENSP00000356448:V1271A	V	-	2	0	TPR	184577083	1.000000	0.71417	0.917000	0.36280	0.993000	0.82548	6.785000	0.75089	1.852000	0.53769	0.482000	0.46254	GTA		0.343	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		G	186310460	A	G	186310460	3	3	189	1	0	0	0	0	1	0	0	0	16413	391	14	4	3375	4	TPR	1	186310460	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	31022427	186310460	62940161	4	13313											
DPYSL5	56896	broad.mit.edu	37	chr2	27151139	27151139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgctaaggaggcacTggatttggggatcacaggcc	9	7	16	9	0	1	0	1	0	0	0	1	3	1	3	2	7	1	2	2	7	1	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:27151139T>C	ENST00000288699.6	+	5	775	c.617T>C	c.(616-618)cTg>cCg	p.L206P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.L206P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	206					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAGGCACTGGATTTGGGG	0.478																																						uc002rhu.4																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(616-618)cTg>cCg		Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.							131	115	121					2																	27151139		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27151139T>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.617T>C	2.37:g.27151139T>C	ENSP00000288699:p.Leu206Pro					DPYSL5_uc002rhv.4_Missense_Mutation_p.L206P|DPYSL5_uc021vev.1_Missense_Mutation_p.L206P	p.L206P	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			4	775	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.617T>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466959	0.84425	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.91068	-2.78;-2.78	5.63	5.63	0.86233	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.91972	3.26	0.80722	D	1	D	0.55800	0.973	P	0.59595	0.86	D	0.96438	0.9324	10	0.87932	D	0	-9.8441	15.1294	0.72511	0.0:0.0:0.0:1.0	.	206	Q9BPU6	DPYL5_HUMAN	P	206	ENSP00000288699:L206P;ENSP00000385549:L206P	ENSP00000288699:L206P	L	+	2	0	DPYSL5	27004643	1.000000	0.71417	0.909000	0.35828	0.871000	0.50021	7.503000	0.81632	2.281000	0.76405	0.533000	0.62120	CTG		0.478	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		C	27151139	T	C	27151139	3	2	189	1	0	0	0	0	1	0	0	0	4750	1580	55	4	631	4	DPYSL5	2	27151139	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08		27151139	216048234	5	13314											
ALPPL2	251	broad.mit.edu	37	chr2	233274470	233274470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccgcctgcgacctggCgccccgcgccggcaccaccg	5	3	11	22	7	0	0	0	0	0	0	0	1	0	0	8	2	2	1	8	2	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:233274470C>T	ENST00000295453.3	+	11	1539	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	496					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGCGACCTGGCGCCCCGCGCC	0.736																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1486-1488)gCg>gTg		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						12	16	14					2																	233274470		2177	4240	6417	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274470C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1487C>T	2.37:g.233274470C>T	ENSP00000295453:p.Ala496Val						p.A496V	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1540	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	496					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1487C>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	8.393	0.840147	0.16891	.	.	ENSG00000163286	ENST00000295453	D	0.95756	-3.8	2.17	0.0606	0.14336	Alkaline-phosphatase-like, core domain (1);	1.819370	0.02478	N	0.088230	D	0.88720	0.6513	N	0.19112	0.55	0.09310	N	1	B	0.27910	0.193	B	0.14578	0.011	T	0.79011	-0.1977	10	0.40728	T	0.16	.	0.9011	0.01274	0.169:0.2531:0.333:0.2449	.	496	P10696	PPBN_HUMAN	V	496	ENSP00000295453:A496V	ENSP00000295453:A496V	A	+	2	0	ALPPL2	232982714	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-1.487000	0.02310	-0.157000	0.11059	0.205000	0.17691	GCG		0.736	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233274470	C	T	233274470	3	4	189	1	0	0	0	0	1	0	0	0	549	768	27	1	1529	1	ALPPL2	2	233274470	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	206123331	233274470	9924903	6	13315											
CCDC12	151903	broad.mit.edu	37	chr3	46965117	46965117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctcctcgatgacgggctCgggcttggcggcctccagct	4	8	13	16	4	0	1	0	1	0	0	4	2	2	1	4	4	1	3	4	4	0	1	rs566710688		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:46965117C>T	ENST00000546280.1	-	4	333	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CCDC12_ENST00000292314.2_Missense_Mutation_p.E109K|CCDC12_ENST00000425441.1_Missense_Mutation_p.E109K|CCDC12_ENST00000605358.1_5'UTR	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	96										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		ATGACGGGCTCGGGCTTGGCG	0.607											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		19508	0		0	False		,,,				2504	0.001					uc011baq.2																			0				endometrium(1)|large_intestine(1)|urinary_tract(1)	3						c.(325-327)Gag>Aag		Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.							62	51	55					3																	46965117		2203	4300	6503	SO:0001583	missense	151903							g.chr3:46965117C>T	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.286G>A	3.37:g.46965117C>T	ENSP00000441327:p.Glu96Lys		OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	CCDC12_uc003cqo.2_Missense_Mutation_p.E109K	p.E109K	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	3	334	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	96					Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37	c.325G>A		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426036	0.43020	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.65320	2	0.80722	D	1	D;D	0.89917	1.0;0.978	D;B	0.72625	0.978;0.387	T	0.70350	-0.4896	9	0.21540	T	0.41	.	15.8977	0.79346	0.0:1.0:0.0:0.0	.	96;96	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	K	109;109;96	.	ENSP00000292314:E109K	E	-	1	0	CCDC12	46940121	1.000000	0.71417	0.959000	0.39883	0.122000	0.20287	4.753000	0.62183	2.415000	0.81967	0.650000	0.86243	GAG		0.607	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716		T	46965117	C	T	46965117	3	4	189	1	0	0	0	0	1	0	0	0	2755	893	31	2	230	2	CCDC12	3	46965117	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		46965117	151057313	7	13316											
OR5H1	26341	broad.mit.edu	37	chr3	97851850	97851850	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagatacagtttttttcGtttgcaatcagtgtaaccac	11	15	7	8	1	1	1	1	0	0	1	2	1	1	1	1	0	4	5	1	0	4	6			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:97851850G>A	ENST00000354565.2	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103S(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGTTTTTTTCGTTTGCAATCA	0.388																																						uc011bgt.2																			1	Substitution - coding silent(1)	p.S103S(2)|p.S103L(1)	kidney(1)	breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(307-309)tcG>tcA		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							194	187	190					3																	97851850		2202	4299	6501	SO:0001819	synonymous_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851850G>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.309G>A	3.37:g.97851850G>A							p.S103S	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	309	+			103						Silent	SNP	ENST00000354565.2	37	c.309G>A	CCDS33797.1																																																																																				0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97851850	G	A	97851850	2	1	189	1	0	0	0	0	0	0	0	1	11159	1132	40	1		1	OR5H1	3	97851850	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08	50886733	97851850	100170580	8	13317											
SLC9A10	285335	broad.mit.edu	37	chr3	111997653	111997653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactactggtgtaaatatacGaaaaaataagtctggactca	18	10	7	6	1	2	0	1	0	1	0	2	2	2	1	0	2	3	1	0	2	10	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:111997653G>A	ENST00000305815.5	-	4	493	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R81C|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	81					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTAAATATACGAAAAAATAAG	0.313																																						uc003dyu.3																			0											c.(241-243)Cgt>Tgt		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.							116	126	123					3																	111997653		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111997653G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.241C>T	3.37:g.111997653G>A	ENSP00000306627:p.Arg81Cys					SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.R81C	p.R81C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			3	463	-			81					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.241C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287527	0.05605	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.06449	3.3;3.3;3.3	5.14	-5.51	0.02568	Cation/H+ exchanger (1);	1.461700	0.03830	N	0.268951	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.40979	-0.9534	10	0.36615	T	0.2	-8.6278	2.886	0.05661	0.1046:0.1535:0.3093:0.4325	.	81;81	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	81;81;8	ENSP00000306627:R81C;ENSP00000420688:R81C;ENSP00000417274:R8C	ENSP00000306627:R81C	R	-	1	0	SLC9A10	113480343	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.333000	0.00508	-1.155000	0.02822	-1.899000	0.00529	CGT		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		A	111997653	G	A	111997653	3	1	189	1	0	0	0	0	1	0	0	0	14710	1058	37	2	3396	2	SLC9A10	3	111997653	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	14145803	111997653	86024777	9	13318											
SOX14	8403	broad.mit.edu	37	chr3	137484038	137484038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggcgccctactccCtgctggaccccgcgcagttt	3	8	11	19	5	0	0	0	0	0	0	2	1	1	1	5	3	2	3	5	3	1	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:137484038C>G	ENST00000306087.1	+	1	460	c.412C>G	c.(412-414)Ctg>Gtg	p.L138V		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	138					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						GCCCTACTCCCTGCTGGACCC	0.721																																						uc003erm.2																			0				large_intestine(2)|lung(12)	14						c.(412-414)Ctg>Gtg		Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.							14	17	16					3																	137484038		2197	4280	6477	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484038C>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.412C>G	3.37:g.137484038C>G	ENSP00000305343:p.Leu138Val						p.L138V	NM_004189	NP_004180	O95416	SOX14_HUMAN			0	905	+			138					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.412C>G	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248471	0.10130	.	.	ENSG00000168875	ENST00000306087	D	0.96200	-3.94	4.7	4.7	0.59300	.	0.087475	0.47455	D	0.000224	D	0.90762	0.7100	L	0.40543	1.245	0.32070	N	0.594516	B	0.15473	0.013	B	0.15052	0.012	D	0.84462	0.0594	10	0.08599	T	0.76	.	11.7654	0.51928	0.0:0.9066:0.0:0.0934	.	138	O95416	SOX14_HUMAN	V	138	ENSP00000305343:L138V	ENSP00000305343:L138V	L	+	1	2	SOX14	138966728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.665000	0.46791	2.449000	0.82847	0.511000	0.50034	CTG		0.721	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		G	137484038	C	G	137484038	3	3	189	1	0	0	0	0	1	0	0	0	14945	680	24	5	414	5	SOX14	3	137484038	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	25486385	137484038	60538392	10	13319											
UGT2B28	54490	broad.mit.edu	37	chr4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgccaaacccctacCtaaggtaaacatactttcgt	14	9	4	14	1	0	0	0	0	0	0	1	0	0	0	5	1	6	1	5	1	7	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:70148376C>A	ENST00000335568.5	+	2	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P289H	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	289					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAACCCCTACCTAAGGTAAAC	0.383																																						uc003hej.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(865-867)cCt>cAt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						103	127	119					4																	70148376		2027	4232	6259	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70148376C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.866C>A	4.37:g.70148376C>A	ENSP00000334276:p.Pro289His					UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	868	+			289					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.866C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	12.86	2.064521	0.36470	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.66815	-0.23;-0.23	2.18	2.18	0.27775	.	0.075448	0.53938	U	0.000051	D	0.85961	0.5819	H	0.97682	4.055	0.32286	N	0.566911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.88058	0.2792	10	0.87932	D	0	.	10.0404	0.42155	0.0:1.0:0.0:0.0	.	289;289	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	H	289	ENSP00000334276:P289H;ENSP00000427399:P289H	ENSP00000334276:P289H	P	+	2	0	UGT2B28	70182965	1.000000	0.71417	0.934000	0.37439	0.321000	0.28281	4.909000	0.63314	1.229000	0.43630	0.184000	0.17185	CCT		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		A	70148376	C	A	70148376	3	1	189	1	0	0	0	0	1	0	0	0	16957	681	24	5	872	5	UGT2B28	4	70148376	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		70148376	121005900	11	13320											
ENPEP	2028	broad.mit.edu	37	chr4	111398043	111398043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccaggtgcaagtccGgaggtgtttcgagtacaaaa	11	8	15	7	2	0	0	0	0	0	0	2	3	1	2	2	5	2	3	2	5	4	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:111398043G>A	ENST00000265162.5	+	1	815	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	158					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTGCAAGTCCGGAGGTGTTTC	0.627																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(472-474)cGg>cAg		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						92	104	100					4																	111398043		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398043G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.473G>A	4.37:g.111398043G>A	ENSP00000265162:p.Arg158Gln						p.R158Q	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	0	815	+		Hepatocellular(203;0.217)	158					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.473G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	4.682	0.126720	0.08931	.	.	ENSG00000138792	ENST00000265162	T	0.02525	4.26	5.43	-6.45	0.01914	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.106740	0.06951	N	0.814568	T	0.01421	0.0046	N	0.04805	-0.155	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.50955	-0.8766	10	0.13853	T	0.58	.	10.9386	0.47260	0.631:0.2726:0.0964:0.0	.	158	Q07075	AMPE_HUMAN	Q	158	ENSP00000265162:R158Q	ENSP00000265162:R158Q	R	+	2	0	ENPEP	111617492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.440000	0.06888	-0.865000	0.04073	-0.975000	0.02590	CGG		0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			A	111398043	G	A	111398043	3	1	189	1	0	0	0	0	1	0	0	0	5128	1116	39	2	475	2	ENPEP	4	111398043	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	41249667	111398043	79756233	12	13321											
PCDHB15	56121	broad.mit.edu	37	chr5	140626805	140626805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgagtgctggtgctggaCgccaacgacaactcgccctt	7	8	13	13	4	0	0	0	0	0	0	1	3	0	1	2	2	5	2	2	2	2	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140626805C>T	ENST00000231173.3	+	1	1659	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D553D(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.711																																						uc003lje.3																			1	Substitution - coding silent(1)	p.D553D(2)	endometrium(1)	NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1657-1659)gaC>gaT		Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.							27	33	31					5																	140626805		2200	4293	6493	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626805C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1659C>T	5.37:g.140626805C>T							p.D553D	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1659	+			553			Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1659C>T	CCDS4257.1																																																																																				0.711	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		T	140626805	C	T	140626805	2	4	189	1	0	0	0	0	0	0	0	1	11540	535	19	1		1	PCDHB15	5	140626805	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		140626805	40288455	13	13322											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740727	140740727	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattcttgatgacaacgAttgtgcacctgaagttattg	12	14	9	6	1	1	4	0	4	1	0	1	5	1	4	1	0	2	2	1	0	4	5	rs150123769	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140740727A>C	ENST00000522605.1	+	1	1025	c.1025A>C	c.(1024-1026)gAt>gCt	p.D342A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGACAACGATTGTGCACCT	0.448																																						uc003ljs.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1024-1026)gAt>gCt		Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.							84	82	83					5																	140740727		2083	4231	6314	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740727A>C	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1025A>C	5.37:g.140740727A>C	ENSP00000429018:p.Asp342Ala					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D342A	p.D342A	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1025	+			345			Cadherin 3.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1025A>C	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.901007	0.33535	.	.	ENSG00000253910	ENST00000522605	D	0.91792	-2.91	5.54	5.54	0.83059	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.98105	0.9375	H	0.99732	4.735	0.35269	D	0.780304	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99979	1.2384	9	0.87932	D	0	.	15.6442	0.77036	1.0:0.0:0.0:0.0	.	342;342	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	A	342	ENSP00000429018:D342A	ENSP00000429018:D342A	D	+	2	0	PCDHGB2	140720911	1.000000	0.71417	0.722000	0.30670	0.008000	0.06430	9.169000	0.94788	2.223000	0.72356	0.533000	0.62120	GAT		0.448	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		C	140740727	A	C	140740727	3	2	189	1	0	0	0	0	1	0	0	0	11563	333	12	5	1027	5	PCDHGB2	5	140740727	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	113922	140740727	40174533	14	13323											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802685	140802685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgaggtgcgtacagcgCgggcactgctggacagagac	8	4	18	11	5	0	1	0	0	0	1	0	4	0	2	0	4	4	3	0	4	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140802685C>T	ENST00000398587.2	+	1	1924	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTACAGCGCGGGCACTGCT	0.687																																						uc003lkq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1891-1893)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.							44	52	50					5																	140802685		2203	4299	6502	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802685C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1891C>T	5.37:g.140802685C>T	ENSP00000381589:p.Arg631Trp					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.R631W|PCDHGC5_uc003lkp.2_Intron	p.R631W	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2149	+			632			Cadherin 6.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1891C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	10.44	1.351053	0.24512	.	.	ENSG00000253873	ENST00000398587	T	0.54279	0.58	5.37	1.33	0.21861	Cadherin (4);Cadherin-like (1);	0.000000	0.26016	U	0.026856	T	0.78729	0.4329	H	0.96111	3.77	0.21782	N	0.999548	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72469	-0.4284	10	0.87932	D	0	.	12.1009	0.53783	0.5446:0.3492:0.1062:0.0	.	631;631	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	W	631	ENSP00000381589:R631W	ENSP00000381589:R631W	R	+	1	2	PCDHGA11	140782869	0.000000	0.05858	0.009000	0.14445	0.319000	0.28217	-0.598000	0.05706	-0.043000	0.13513	0.561000	0.74099	CGG		0.687	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		T	140802685	C	T	140802685	3	4	189	1	0	0	0	0	1	0	0	0	11552	759	27	1	1893	1	PCDHGA11	5	140802685	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	61958	140802685	40112575	15	13324											
ABCA13	154664	broad.mit.edu	37	chr7	48412010	48412010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcggccctttgtaccagCctggtgtacatgatcagctt	8	11	10	12	1	1	1	1	1	0	0	1	1	1	1	3	2	5	3	3	2	2	4			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:48412010C>A	ENST00000435803.1	+	33	11073	c.11049C>A	c.(11047-11049)agC>agA	p.S3683R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3683					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGTACCAGCCTGGTGTACA	0.403																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11047-11049)agC>agA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							181	173	176					7																	48412010		1961	4160	6121	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48412010C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11049C>A	7.37:g.48412010C>A	ENSP00000411096:p.Ser3683Arg					ABCA13_uc010kys.1_Missense_Mutation_p.S757R|ABCA13_uc003tos.1_Missense_Mutation_p.S509R	p.S3683R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			32	11073	+			3683					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11049C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249734	0.59212	.	.	ENSG00000179869	ENST00000435803	D	0.87571	-2.27	5.77	1.95	0.26073	.	0.095034	0.46442	D	0.000298	D	0.92208	0.7529	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	D	0.91334	0.5092	10	0.72032	D	0.01	.	10.4146	0.44314	0.0:0.7215:0.0:0.2785	.	1385;3683	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	3683	ENSP00000411096:S3683R	ENSP00000411096:S3683R	S	+	3	2	ABCA13	48382556	1.000000	0.71417	0.969000	0.41365	0.691000	0.40173	2.494000	0.45329	0.461000	0.27071	-0.136000	0.14681	AGC		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48412010	C	A	48412010	3	1	189	1	0	0	0	0	1	0	0	0	31	738	26	5	11008	5	ABCA13	7	48412010	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		48412010	110726653	16	13325											
SEMA3C	10512	broad.mit.edu	37	chr7	80456743	80456743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttaacacttactgTgggatctttgccagccattt	7	20	6	8	0	1	0	0	0	1	0	1	1	1	1	2	1	4	0	2	1	2	8	rs13310887		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:80456743T>G	ENST00000265361.3	-	4	886	c.325A>C	c.(325-327)Aca>Cca	p.T109P	SEMA3C_ENST00000419255.2_Missense_Mutation_p.T109P|SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T127P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACACTTACTGTGGGATCTTTG	0.338																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(379-381)Aca>Cca		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							33	34	34					7																	80456743		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80456743T>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.325A>C	7.37:g.80456743T>G	ENSP00000265361:p.Thr109Pro					SEMA3C_uc003uhj.3_Missense_Mutation_p.T109P|SEMA3C_uc011kgx.1_Intron	p.T127P	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			3	458	-			109			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.379A>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756934	0.49362	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.10960	2.82;2.82;2.82	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.044872	0.85682	D	0.000000	T	0.17789	0.0427	L	0.50333	1.59	0.80722	D	1	B;B	0.32365	0.317;0.367	B;B	0.41666	0.248;0.363	T	0.01930	-1.1245	10	0.39692	T	0.17	.	16.1819	0.81915	0.0:0.0:0.0:1.0	rs13310887;rs13310887	127;109	F5H1Z7;Q99985	.;SEM3C_HUMAN	P	109;109;127	ENSP00000265361:T109P;ENSP00000411193:T109P;ENSP00000445649:T127P	ENSP00000265361:T109P	T	-	1	0	SEMA3C	80294679	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.243000	0.78219	2.279000	0.76181	0.533000	0.62120	ACA		0.338	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		G	80456743	T	G	80456743	3	3	189	1	0	0	0	0	1	0	0	0	14026	1696	59	5	1990	5	SEMA3C	7	80456743	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08	32044733	80456743	78681920	17	13326											
GRM3	2913	broad.mit.edu	37	chr7	86415951	86415951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcgcagcgacgactcGcgggagctcattgcagccgc	7	7	13	14	6	2	0	2	0	0	0	3	3	2	1	1	1	5	3	1	1	0	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:86415951G>A	ENST00000361669.2	+	3	1942	c.843G>A	c.(841-843)tcG>tcA	p.S281S	GRM3_ENST00000439827.1_Silent_p.S281S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.S279S|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.S153S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	281					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCGACGACTCGCGGGAGCTCA	0.662																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0		p.D280N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(841-843)tcG>tcA		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						34	40	38					7																	86415951		2202	4299	6501	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415951G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.843G>A	7.37:g.86415951G>A						GRM3_uc010lef.3_Silent_p.S279S|GRM3_uc010leg.3_Silent_p.S153S|GRM3_uc010leh.3_Intron	p.S281S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1942	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		281					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.843G>A	CCDS5600.1																																																																																				0.662	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86415951	G	A	86415951	2	1	189	1	0	0	0	0	0	0	0	1	6798	1074	38	1		1	GRM3	7	86415951	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08	5959208	86415951	72722712	18	13327											
EMID2	136227	broad.mit.edu	37	chr7	101063350	101063350	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgtaccagagctgccGgtggccggggccctgcgcca	4	5	17	15	5	0	1	0	0	0	1	0	1	0	1	5	4	4	2	5	4	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:101063350G>A	ENST00000397927.3	+	0	464				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CAGAGCTGCCGGTGGCCGGGG	0.647																																						uc010lhy.1																			0		p.C83S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18						c.(250-252)cGg>cAg		Homo sapiens EMI domain containing 2 (EMID2), mRNA.							29	39	35					7																	101063350		2022	4162	6184			136227					collagen		g.chr7:101063350G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063350G>A						EMID2_uc003uyo.1_Missense_Mutation_p.R84Q	p.R84Q	NM_133457	NP_597714	Q96A83	EMID2_HUMAN			1	443	+	Lung NSC(181;0.215)		84			EMI.		Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37	c.251G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.772359	0.90108	.	.	ENSG00000160963	ENST00000313669	T	0.46451	0.87	4.95	4.03	0.46877	EMI domain (2);	0.000000	0.34025	U	0.004332	T	0.59390	0.2190	M	0.71581	2.175	0.25488	N	0.987671	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.52823	-0.8524	10	0.28530	T	0.3	.	12.0464	0.53483	0.0:0.0:0.8259:0.1741	.	84;84	Q96A83;C9JPW4	EMID2_HUMAN;.	Q	84	ENSP00000318234:R84Q	ENSP00000318234:R84Q	R	+	2	0	EMID2	100850070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.026000	0.93700	1.020000	0.39573	0.558000	0.71614	CGG		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		A	101063350	G	A	101063350	1	1	189	0	1	0	0	0	0	0	0	0	5092	1116	39	2		2	EMID2	7	101063350	RNA	SNP	G	TCGA-27-1837-01A-01D-1494-08	14647399	101063350	58075313	19	13328											
FBXL13	222235	broad.mit.edu	37	chr7	102604030	102604030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaccacgaaaattcaaaCgcagcacatttaaacgccac	18	5	5	13	3	1	0	1	0	0	0	1	2	1	0	2	0	4	2	2	0	6	3	rs180901632		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:102604030C>T	ENST00000313221.4	-	8	1100	c.674G>A	c.(673-675)cGt>cAt	p.R225H	FBXL13_ENST00000455112.2_Missense_Mutation_p.R225H|FBXL13_ENST00000393772.2_Missense_Mutation_p.R225H|FBXL13_ENST00000456695.1_Missense_Mutation_p.R225H|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.R225H|FBXL13_ENST00000379306.3_Missense_Mutation_p.R225H|FBXL13_ENST00000436908.1_Missense_Mutation_p.R225H|FBXL13_ENST00000379305.3_Missense_Mutation_p.R225H	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	225										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAAATTCAAACGCAGCACATT	0.328													C|||	1	0.000199681	0	0	5008	,	,		18067	0		0.001	False		,,,				2504	0					uc003vaq.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(673-675)cGt>cAt		Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.							96	98	97					7																	102604030		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102604030C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.674G>A	7.37:g.102604030C>T	ENSP00000321927:p.Arg225His					FBXL13_uc010liq.1_Missense_Mutation_p.R40H|FBXL13_uc010lir.1_Missense_Mutation_p.R225H|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R225H|FBXL13_uc003vav.2_Non-coding_Transcript	p.R225H	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			7	1101	-			225					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.674G>A	CCDS5726.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.90	3.720809	0.68959	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.53423	2.34;2.34;2.34;2.34;0.62;0.62;2.34;2.34	5.83	4.95	0.65309	.	0.311573	0.28748	N	0.014268	T	0.56156	0.1966	L	0.52364	1.645	0.29919	N	0.822866	P;D;D;P	0.71674	0.865;0.998;0.998;0.46	B;P;P;B	0.62813	0.129;0.907;0.907;0.09	T	0.53844	-0.8381	10	0.19590	T	0.45	.	11.5604	0.50774	0.0:0.8551:0.0:0.1449	.	225;225;225;225	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	H	225;225;225;152;225;225;225;225;225	ENSP00000377367:R225H;ENSP00000368610:R225H;ENSP00000368608:R225H;ENSP00000368607:R225H;ENSP00000388608:R225H;ENSP00000321927:R225H;ENSP00000409716:R225H;ENSP00000391550:R225H	ENSP00000321927:R225H	R	-	2	0	FBXL13	102391266	0.951000	0.32395	1.000000	0.80357	0.883000	0.51084	0.725000	0.25970	1.460000	0.47911	0.650000	0.86243	CGT		0.328	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		T	102604030	C	T	102604030	3	4	189	1	0	0	0	0	1	0	0	0	5709	536	19	1	1585	1	FBXL13	7	102604030	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	1540680	102604030	56534633	20	13329											
RELN	5649	broad.mit.edu	37	chr7	103368566	103368566	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatacttaccagttctcGtgggccatatggttcacaga	10	11	9	11	1	2	1	1	0	1	1	3	1	2	1	2	2	2	3	2	2	3	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:103368566G>A	ENST00000428762.1	-	7	904	c.745C>T	c.(745-747)Cga>Tga	p.R249*	RELN_ENST00000343529.5_Nonsense_Mutation_p.R249*|RELN_ENST00000424685.2_Nonsense_Mutation_p.R249*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	249					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGTTCTCGTGGGCCATAT	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.R249L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(745-747)Cga>Tga		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							135	110	118					7																	103368566		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103368566G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.745C>T	7.37:g.103368566G>A	ENSP00000392423:p.Arg249*					RELN_uc022ajq.1_Nonsense_Mutation_p.R249*|RELN_uc010liz.3_Nonsense_Mutation_p.R249*	p.R249*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	6	905	-			249					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.745C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	38	6.975019	0.97975	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.66	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5635	0.61804	0.0:0.0:0.3645:0.6355	.	.	.	.	X	249	.	ENSP00000345694:R249X	R	-	1	2	RELN	103155802	0.974000	0.33945	0.884000	0.34674	0.995000	0.86356	1.690000	0.37711	0.693000	0.31634	-0.122000	0.15005	CGA		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103368566	G	A	103368566	4	1	189	1	0	0	0	0	0	1	0	0	13220	1153	40	1	9873	1	RELN	7	103368566	Nonsense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	764536	103368566	55770097	21	13330											
CSMD1	64478	broad.mit.edu	37	chr8	3216774	3216774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcccaggaagcaggaaaaCgtcagagagtctcccacacc	14	5	9	13	1	2	1	1	0	1	1	4	4	3	3	3	2	2	1	3	2	4	1	rs370198228		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr8:3216774C>T	ENST00000520002.1	-	22	3762	c.3207G>A	c.(3205-3207)acG>acA	p.T1069T	CSMD1_ENST00000539096.1_Silent_p.T1068T|CSMD1_ENST00000400186.3_Silent_p.T1069T|CSMD1_ENST00000602723.1_Silent_p.T1069T|CSMD1_ENST00000537824.1_Silent_p.T1068T|CSMD1_ENST00000542608.1_Silent_p.T1068T|CSMD1_ENST00000602557.1_Silent_p.T1069T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1069	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGGAAAACGTCAGAGAGT	0.552																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(3202-3204)acG>acA		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.				3,4403	4.2+/-10.8	0,3,2200	71	77	75		3204	-10.5	0.1	8		75	0,8600		0,0,4300	no	coding-synonymous	CSMD1	NM_033225.5		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1068/3565	3216774	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3216774C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3207G>A	8.37:g.3216774C>T						CSMD1_uc011kwj.2_Silent_p.T461T|CSMD1_uc003wqe.3_Silent_p.T225T	p.T1068T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	20	3594	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1069			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3204G>A		.	.	.	.	.	.	.	.	.	.	c	0.130	-1.114315	0.01799	6.81E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43589	-0.9382	4	.	.	.	.	2.4807	0.04587	0.2701:0.3878:0.1459:0.1962	.	.	.	.	I	549	.	.	V	-	1	0	CSMD1	3204181	0.000000	0.05858	0.067000	0.19924	0.037000	0.13140	-2.651000	0.00857	-3.059000	0.00257	-1.213000	0.01624	GTT		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3216774	C	T	3216774	2	4	189	1	0	0	0	0	0	0	0	1	3944	523	19	1		1	CSMD1	8	3216774	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		3216774	143147248	22	13331											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																								rs387906562|rs369807922		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													uc003zkv.4																			2	Deletion - Frameshift(2)	p.N353fs*31(4)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acaaacfs		Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs						p.T352fs	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	4	1232_1235	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		-	12702414	ACAA	-	12702411	7	5	189	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-27-1837-01A-01D-1494-08		12702411	128511020	23	13332											
C9orf80	58493	broad.mit.edu	37	chr9	115451883	115451883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccttattaagagagggtCtcgagagtgcaatgctaaaa	14	10	11	6	1	1	2	0	0	1	2	3	4	2	2	1	1	2	2	1	1	5	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:115451883C>A	ENST00000374242.4	-	4	448	c.143G>T	c.(142-144)aGa>aTa	p.R48I	INIP_ENST00000374236.1_Missense_Mutation_p.R18I|INIP_ENST00000374238.1_Intron|INIP_ENST00000374234.1_Intron|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	48					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											AAGAGAGGGTCTCGAGAGTGC	0.428																																						uc004bgg.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						c.(142-144)aGa>aTa		Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.							118	106	110					9																	115451883		2203	4300	6503	SO:0001583	missense	58493				DNA repair|response to ionizing radiation	SOSS complex	protein binding	g.chr9:115451883C>A	AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"hSSB-interacting protein 1", "sensor of single-strand DNA complex subunit C", "minute INTS3/hSSB-associated element"	613273	"chromosome 9 open reading frame 80"	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.143G>T	9.37:g.115451883C>A	ENSP00000363360:p.Arg48Ile					C9orf80_uc010muk.3_Intron	p.R48I	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN			3	320	-			48					Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	c.143G>T	CCDS6785.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104032	0.94245	.	.	ENSG00000148153	ENST00000374242;ENST00000374236	.	.	.	5.74	5.74	0.90152	.	0.084597	0.85682	D	0.000000	T	0.78413	0.4279	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.77456	-0.2581	9	0.56958	D	0.05	-19.1033	19.9465	0.97184	0.0:1.0:0.0:0.0	.	48	Q9NRY2	SOSSC_HUMAN	I	48;18	.	ENSP00000363353:R18I	R	-	2	0	C9orf80	114491704	1.000000	0.71417	0.477000	0.27303	0.169000	0.22640	6.582000	0.74049	2.885000	0.99019	0.579000	0.79373	AGA		0.428	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218		A	115451883	C	A	115451883	3	1	189	1	0	0	0	0	1	0	0	0	2498	913	32	5	179	5	C9orf80	9	115451883	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	102749472	115451883	25761548	24	13333											
MYO3A	53904	broad.mit.edu	37	chr10	26482157	26482157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtaaaggagaggagccaAaaatattgagacccccaaga	17	6	10	8	0	1	3	0	1	1	3	1	6	1	4	3	2	1	1	3	2	6	3	rs34204285	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:26482157A>G	ENST00000265944.5	+	32	4628	c.4462A>G	c.(4462-4464)Aaa>Gaa	p.K1488E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1488			K -> E (in dbSNP:rs34204285). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGGAGCCAAAAATATTGAG	0.358													A|||	46	0.0091853	0	0	5008	,	,		18772	0.0437		0	False		,,,				2504	0.002					uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4462-4464)Aaa>Gaa		Homo sapiens myosin IIIA (MYO3A), mRNA.		A	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	69	67	68		4462	5.7	1	10	dbSNP_126	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYO3A	NM_017433.4	56	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	benign	1488/1617	26482157	2,13004	2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26482157A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4462A>G	10.37:g.26482157A>G	ENSP00000265944:p.Lys1488Glu					MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	p.K1488E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			31	4822	+			1488		K -> E (in dbSNP:rs34204285).			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4462A>G	CCDS7148.1	22	0.010073260073260074	0	0.0	0	0.0	21	0.03671328671328671	1	0.0013192612137203166	A	14.97	2.694588	0.48202	2.27E-4	1.16E-4	ENSG00000095777	ENST00000265944	T	0.79141	-1.24	5.7	5.7	0.88788	.	0.205205	0.38381	N	0.001712	T	0.40645	0.1125	L	0.49126	1.545	0.80722	D	1	B	0.27229	0.172	B	0.22386	0.039	T	0.61987	-0.6949	10	0.62326	D	0.03	.	11.1302	0.48343	0.8461:0.1539:0.0:0.0	rs34204285	1488	Q8NEV4	MYO3A_HUMAN	E	1488	ENSP00000265944:K1488E	ENSP00000265944:K1488E	K	+	1	0	MYO3A	26522163	0.994000	0.37717	0.996000	0.52242	0.945000	0.59286	3.546000	0.53656	2.175000	0.68902	0.528000	0.53228	AAA		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		G	26482157	A	G	26482157	3	3	189	1	0	0	0	0	1	0	0	0	10076	15	1	4	4580	4	MYO3A	10	26482157	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08		26482157	109052590	25	13334											
PTEN	5728	broad.mit.edu	37	chr10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcacttttgggtaaataCattcttcataccaggaccag	11	14	7	9	0	3	0	2	0	1	0	3	1	3	1	2	2	2	2	2	2	4	8	rs398123329		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:89720679C>T	ENST00000371953.3	+	8	2187	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	277	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.T277I(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(829-831)aCa>aTa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							31	32	32					10																	89720679		2196	4284	6480	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720679C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.830C>T	10.37:g.89720679C>T	ENSP00000361021:p.Thr277Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T277I	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1862	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	277			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.830C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666335	0.88251	.	.	ENSG00000171862	ENST00000371953	D	0.98419	-4.92	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.86953	2.85	0.80722	D	1	P	0.43788	0.817	B	0.40534	0.332	D	0.98816	1.0745	9	.	.	.	-0.9023	18.5632	0.91108	0.0:1.0:0.0:0.0	.	277	P60484	PTEN_HUMAN	I	277	ENSP00000361021:T277I	.	T	+	2	0	PTEN	89710659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.399000	0.81585	0.591000	0.81541	ACA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720679	C	T	89720679	3	4	189	1	0	0	0	0	1	0	0	0	12738	478	17	3	860	3	PTEN	10	89720679	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	63238522	89720679	45814068	26	13335											
OR4D5	219875	broad.mit.edu	37	chr11	123811011	123811011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctccgaagccactcaCgggagggccgcagcaaggcc	9	4	13	15	3	2	0	2	0	0	0	3	2	3	1	4	3	3	3	4	3	2	0			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:123811011C>T	ENST00000307033.2	+	1	762	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGCCACTCACGGGAGGGCCG	0.522																																						uc001pzk.1																			0		p.R230R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(688-690)Cgg>Tgg		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.							217	193	201					11																	123811011		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811011C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.688C>T	11.37:g.123811011C>T	ENSP00000305970:p.Arg230Trp						p.R230W	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	688	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	230					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.688C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170606	0.38315	.	.	ENSG00000171014	ENST00000307033	T	0.00137	8.68	5.49	-3.92	0.04155	GPCR, rhodopsin-like superfamily (1);	1.210450	0.06263	N	0.694236	T	0.00178	0.0005	L	0.28400	0.85	0.09310	N	1	D	0.56968	0.978	P	0.55303	0.773	T	0.37079	-0.9721	10	0.66056	D	0.02	-0.1578	0.9445	0.01362	0.2766:0.4006:0.156:0.1668	.	230	Q8NGN0	OR4D5_HUMAN	W	230	ENSP00000305970:R230W	ENSP00000305970:R230W	R	+	1	2	OR4D5	123316221	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-2.859000	0.00727	-0.731000	0.04862	0.650000	0.86243	CGG		0.522	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		T	123811011	C	T	123811011	3	4	189	1	0	0	0	0	1	0	0	0	11057	527	19	1	690	1	OR4D5	11	123811011	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		123811011	11195505	27	13336											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343595	130343595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaagagctgcggccGgggatttcagaggcgctcac	7	7	14	13	3	2	2	2	0	0	2	3	3	3	3	2	4	3	3	2	4	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:130343595G>A	ENST00000299164.2	+	8	2732	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	911	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCTGCGGCCGGGGATTTCAG	0.682																																						uc010scd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2731-2733)cGg>cAg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.							22	28	26					11																	130343595		2198	4292	6490	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343595G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2732G>A	11.37:g.130343595G>A	ENSP00000299164:p.Arg911Gln						p.R911Q	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	2732	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	911			TSP type-1 3.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2732G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348877	0.61183	.	.	ENSG00000166106	ENST00000299164	T	0.52526	0.66	5.43	4.51	0.55191	.	.	.	.	.	T	0.41696	0.1170	L	0.48642	1.525	0.52099	D	0.999947	B	0.17852	0.024	B	0.20184	0.028	T	0.21552	-1.0242	9	0.22706	T	0.39	.	14.401	0.67047	0.0719:0.0:0.9281:0.0	.	911	Q8TE58	ATS15_HUMAN	Q	911	ENSP00000299164:R911Q	ENSP00000299164:R911Q	R	+	2	0	ADAMTS15	129848805	0.003000	0.15002	0.935000	0.37517	0.934000	0.57294	1.317000	0.33631	1.288000	0.44600	0.557000	0.71058	CGG		0.682	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		A	130343595	G	A	130343595	3	1	189	1	0	0	0	0	1	0	0	0	260	1116	39	2	2762	2	ADAMTS15	11	130343595	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	6532584	130343595	4662921	28	13337											
CLSTN3	9746	broad.mit.edu	37	chr12	7302219	7302219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgagcgggaaagcctgctCctggacacaacctctctgca	9	6	10	16	2	1	0	0	0	1	0	3	3	2	2	4	2	5	2	4	2	2	0			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7302219C>T	ENST00000266546.6	+	14	2625	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	CLSTN3_ENST00000537408.1_Silent_p.L737L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	725					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AAAGCCTGCTCCTGGACACAA	0.582													C|||	1	0.000199681	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0					uc001qss.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2209-2211)ctC>ctT		Homo sapiens calsyntenin 3 (CLSTN3), mRNA.							77	70	72					12																	7302219		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302219C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2175C>T	12.37:g.7302219C>T						CLSTN3_uc001qsr.3_Silent_p.L725L	p.L737L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			12	2749	+			725					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.2211C>T	CCDS8575.1																																																																																				0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7302219	C	T	7302219	2	4	189	1	0	0	0	0	0	0	0	1	3563	842	30	3		3	CLSTN3	12	7302219	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		7302219	126549676	29	13338											
ACSM4	341392	broad.mit.edu	37	chr12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagtccagatcaaatcCgcggagaggtagatgaatgt	13	9	12	7	2	2	4	2	1	0	3	4	5	4	4	2	2	0	2	2	2	4	2	rs199564292		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7477186C>T	ENST00000399422.4	+	11	1576	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	510					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						AGATCAAATCCGCGGAGAGGT	0.438													C|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					uc001qsx.1																			0		p.R510R(1)		endometrium(6)|kidney(1)|lung(14)	21						c.(1528-1530)Cgc>Tgc		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.		C	CYS/ARG	1,3851		0,1,1925	99	92	94		1528	1.6	1	12		94	1,8243		0,1,4121	yes	missense	ACSM4	NM_001080454.1	180	0,2,6046	TT,TC,CC		0.0121,0.026,0.0165	probably-damaging	510/581	7477186	2,12094	1926	4122	6048	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7477186C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1528C>T	12.37:g.7477186C>T	ENSP00000382349:p.Arg510Cys						p.R510C	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			10	1528	+			510					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1528C>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004867	0.35415	2.6E-4	1.21E-4	ENSG00000215009	ENST00000399422	T	0.59772	0.24	2.58	1.59	0.23543	.	0.000000	0.33309	U	0.005056	T	0.76126	0.3944	M	0.91354	3.2	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.75642	-0.3247	10	0.87932	D	0	-17.6681	6.9255	0.24412	0.5741:0.4259:0.0:0.0	.	510	P0C7M7	ACSM4_HUMAN	C	510	ENSP00000382349:R510C	ENSP00000382349:R510C	R	+	1	0	ACSM4	7368453	0.025000	0.19082	0.995000	0.50966	0.540000	0.34992	0.194000	0.17135	0.553000	0.29044	0.557000	0.71058	CGC		0.438	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7477186	C	T	7477186	3	4	189	1	0	0	0	0	1	0	0	0	186	652	23	2	1570	2	ACSM4	12	7477186	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	174967	7477186	126374709	30	13339											
TUBA1A	7846	broad.mit.edu	37	chr12	49578914	49578914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaactcaccttcctccatcCcctccccaacgtaccagtga	11	8	3	19	1	1	1	1	1	0	0	5	1	5	1	8	0	3	1	8	0	4	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:49578914C>T	ENST00000295766.5	-	4	1714	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	TUBA1A_ENST00000550767.1_Missense_Mutation_p.G377E|TUBA1A_ENST00000301071.7_Missense_Mutation_p.G412E	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	412					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TTCCTCCATCCCCTCCCCAAC	0.547																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	uc009zlf.3																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(1234-1236)gGg>gAg		Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.							165	153	157					12																	49578914		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49578914C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1235G>A	12.37:g.49578914C>T	ENSP00000439020:p.Gly412Glu					TUBA1A_uc001rtp.3_Missense_Mutation_p.G412E	p.G412E	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN			3	1507	-			412					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.1235G>A	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994150	0.54041	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.87179	-2.22;-2.22;-2.22	5.51	5.51	0.81932	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	H	0.97732	4.065	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	D	0.97332	0.9951	10	0.87932	D	0	.	18.2109	0.89869	0.0:1.0:0.0:0.0	.	412	Q71U36	TBA1A_HUMAN	E	412;143;259;412;377	ENSP00000301071:G412E;ENSP00000439020:G412E;ENSP00000446637:G377E	ENSP00000439020:G412E	G	-	2	0	TUBA1A	47865181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.406000	0.80017	2.581000	0.87130	0.655000	0.94253	GGG		0.547	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		T	49578914	C	T	49578914	3	4	189	1	0	0	0	0	1	0	0	0	16740	623	22	3	124	3	TUBA1A	12	49578914	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	42101728	49578914	84272981	31	13340											
GLTP	51228	broad.mit.edu	37	chr12	110290512	110290512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagcgctttcaggaagtCagacttatagggtgctgcgt	9	10	15	7	2	2	2	2	0	0	2	2	4	2	3	0	3	3	2	0	3	3	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:110290512C>T	ENST00000318348.4	-	5	591	c.478G>A	c.(478-480)Gac>Aac	p.D160N	GLTP_ENST00000544393.1_Missense_Mutation_p.D141N	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	160					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TTCAGGAAGTCAGACTTATAG	0.587											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tpm.3																			0				endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(478-480)Gac>Aac		Homo sapiens glycolipid transfer protein (GLTP), mRNA.							224	219	221					12																	110290512		2203	4300	6503	SO:0001583	missense	51228					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr12:110290512C>T	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.478G>A	12.37:g.110290512C>T	ENSP00000315263:p.Asp160Asn		OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1426		p.D160N	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0025)	4	592	-		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)	160					Q53Z13|Q96J68	Missense_Mutation	SNP	ENST00000318348.4	37	c.478G>A	CCDS9136.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008266	0.75046	.	.	ENSG00000139433	ENST00000318348;ENST00000544393	.	.	.	5.11	5.11	0.69529	Glycolipid transfer protein domain (3);	0.093378	0.64402	D	0.000001	T	0.59932	0.2230	L	0.50847	1.595	0.80722	D	1	B	0.24317	0.101	B	0.30179	0.112	T	0.55522	-0.8128	9	0.27785	T	0.31	.	17.5688	0.87928	0.0:1.0:0.0:0.0	.	160	Q9NZD2	GLTP_HUMAN	N	160;141	.	ENSP00000315263:D160N	D	-	1	0	GLTP	108774895	0.999000	0.42202	0.978000	0.43139	0.974000	0.67602	4.337000	0.59310	2.546000	0.85860	0.650000	0.86243	GAC		0.587	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2	NM_016433		T	110290512	C	T	110290512	3	4	189	1	0	0	0	0	1	0	0	0	6471	826	29	3	155	3	GLTP	12	110290512	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	60711598	110290512	23561383	32	13341											
IQCH	64799	broad.mit.edu	37	chr15	67664811	67664811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatggaaattcggaggcCgccatgaagatccaagccac	14	5	11	11	2	0	3	0	1	0	2	2	5	1	5	4	3	1	0	4	3	4	1	rs111681102	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr15:67664811C>T	ENST00000335894.4	+	9	1182	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	IQCH_ENST00000546225.1_Silent_p.A120A|IQCH_ENST00000358767.3_Silent_p.A199A|IQCH_ENST00000360277.4_Silent_p.A124A	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	372	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTCGGAGGCCGCCATGAAGA	0.468													C|||	9	0.00179712	0.0068	0	5008	,	,		18530	0		0	False		,,,				2504	0					uc002aqo.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1114-1116)gcC>gcT		Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.		C		14,4388	21.2+/-45.6	0,14,2187	70	71	71		1116	-8	0	15	dbSNP_132	71	0,8598		0,0,4299	no	coding-synonymous	IQCH	NM_001031715.2		0,14,6486	TT,TC,CC		0.0,0.318,0.1077		372/1028	67664811	14,12986	2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67664811C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1116C>T	15.37:g.67664811C>T						IQCH_uc010ujv.2_Silent_p.A191A|IQCH_uc002aqn.2_Silent_p.A199A|IQCH_uc002aqp.2_Silent_p.A124A|IQCH_uc002aqq.2_Silent_p.A120A	p.A372A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	8	1213	+			372			IQ.		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.1116C>T	CCDS32273.1																																																																																				0.468	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		T	67664811	C	T	67664811	2	4	189	1	0	0	0	0	0	0	0	1	7811	639	23	2		2	IQCH	15	67664811	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		67664811	34866581	33	13342											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251329	25251329	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgtgtattctccgatgTtctcgaaatctcgtacagtt	8	15	8	10	3	3	0	0	0	3	0	6	2	3	0	2	0	1	4	2	0	3	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:25251329T>C	ENST00000328086.7	-	7	3515	c.2712A>G	c.(2710-2712)gaA>gaG	p.E904E	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	904					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCCGATGTTCTCGAAATC	0.458																																						uc002dod.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2710-2712)gaA>gaG		Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.							99	86	91					16																	25251329		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251329T>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2712A>G	16.37:g.25251329T>C						ZKSCAN2_uc010vcl.2_Silent_p.E700E	p.E904E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	3119	-			904					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.2712A>G	CCDS32410.1																																																																																				0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		C	25251329	T	C	25251329	2	2	189	1	0	0	0	0	0	0	0	1	17684	1722	60	4		4	ZKSCAN2	16	25251329	Silent	SNP	T	TCGA-27-1837-01A-01D-1494-08		25251329	65103424	34	13343											
ZNF48	197407	broad.mit.edu	37	chr16	30409511	30409511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggaaaggagtttgccCggggatccgacctggtgaag	8	9	17	7	2	0	1	0	1	0	0	1	5	1	4	3	5	1	1	3	5	2	1	rs141362652		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:30409511C>T	ENST00000320159.2	+	2	1316	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGAGTTTGCCCGGGGATCCGA	0.622																																						uc002dya.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(940-942)Cgg>Tgg		Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	89	101	97		940,571,940,940	4.9	1	16	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	101,101,101,101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	314/619,191/496,314/619,314/619	30409511	1,12993	2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409511C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.940C>T	16.37:g.30409511C>T	ENSP00000324056:p.Arg314Trp					ZNF48_uc021tgi.1_Missense_Mutation_p.R314W|ZNF48_uc021tgj.1_Missense_Mutation_p.R191W|ZNF48_uc021tgk.1_Missense_Mutation_p.R314W	p.R314W	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN			1	1316	+			314					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.940C>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974972	0.53720	2.28E-4	0.0	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.16073	2.37	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002281	T	0.30792	0.0776	L	0.48935	1.535	0.26594	N	0.973146	D	0.89917	1.0	D	0.91635	0.999	T	0.05582	-1.0876	10	0.41790	T	0.15	-12.9205	9.1161	0.36758	0.0:0.9029:0.0:0.0971	.	314	Q96MX3	ZNF48_HUMAN	W	439;314	ENSP00000324056:R314W	ENSP00000324056:R314W	R	+	1	2	ZNF48	30317012	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.213000	0.09305	2.565000	0.86533	0.467000	0.42956	CGG		0.622	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		T	30409511	C	T	30409511	3	4	189	1	0	0	0	0	1	0	0	0	17931	643	23	2	946	2	ZNF48	16	30409511	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	5158182	30409511	59945242	35	13344											
WDR81	124997	broad.mit.edu	37	chr17	1634533	1634533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccgtgctcagcttcCtcacctccctcgtcacgggg	3	10	10	18	3	3	0	3	0	0	0	6	0	5	0	4	2	4	3	4	2	0	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:1634533C>G	ENST00000409644.1	+	4	4138	c.4138C>G	c.(4138-4140)Ctc>Gtc	p.L1380V	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.L329V|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000446363.1_Missense_Mutation_p.L19V|WDR81_ENST00000419248.1_Missense_Mutation_p.L153V|WDR81_ENST00000437219.2_Missense_Mutation_p.L177V	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1380					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCAGCTTCCTCACCTCCCT	0.647																																						uc002ftj.2																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4138-4140)Ctc>Gtc		Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.							65	51	55					17																	1634533		2203	4299	6502	SO:0001583	missense	124997							g.chr17:1634533C>G	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4138C>G	17.37:g.1634533C>G	ENSP00000386609:p.Leu1380Val					WDR81_uc002fth.2_Missense_Mutation_p.L329V|WDR81_uc010vqp.1_Missense_Mutation_p.L177V|WDR81_uc002fti.2_Missense_Mutation_p.L153V|WDR81_uc010vqq.1_Intron	p.L1380V	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	3	4267	+			153					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4138C>G	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642218	0.67244	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T;T	0.61859	1.88;1.88;0.07;1.91;0.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	L	0.60455	1.87	0.80722	D	1	P;D;P	0.69078	0.911;0.997;0.911	B;D;P	0.78314	0.293;0.991;0.51	T	0.69446	-0.5143	10	0.45353	T	0.12	.	12.4141	0.55483	0.0:0.9238:0.0:0.0762	.	177;507;329	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	V	177;329;19;153;1380;131	ENSP00000391074:L177V;ENSP00000312074:L329V;ENSP00000401560:L19V;ENSP00000407845:L153V;ENSP00000386609:L1380V	ENSP00000312074:L329V	L	+	1	0	WDR81	1581283	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.967000	0.49216	2.757000	0.94681	0.655000	0.94253	CTC		0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		G	1634533	C	G	1634533	3	3	189	1	0	0	0	0	1	0	0	0	17327	681	24	5	4214	5	WDR81	17	1634533	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		1634533	79560677	36	13345											
NCOR1	9611	broad.mit.edu	37	chr17	16062148	16062148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggggacacgggcttctCaggctcaggaggtttagctg	8	8	17	8	1	2	0	2	0	1	0	3	3	2	3	0	7	1	4	0	7	1	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:16062148C>T	ENST00000268712.3	-	6	915	c.658G>A	c.(658-660)Gag>Aag	p.E220K	NCOR1_ENST00000395848.1_Missense_Mutation_p.E111K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E220K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	220	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGGGCTTCTCAGGCTCAGGA	0.488																																						uc002gpo.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(658-660)Gag>Aag		Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.							87	77	80					17																	16062148		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16062148C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.658G>A	17.37:g.16062148C>T	ENSP00000268712:p.Glu220Lys					NCOR1_uc002gpn.3_Missense_Mutation_p.E220K|NCOR1_uc002gpp.1_Missense_Mutation_p.E111K|NCOR1_uc002gpr.3_Missense_Mutation_p.E111K|NCOR1_uc002gps.2_Missense_Mutation_p.E220K|NCOR1_uc010cpb.2_Missense_Mutation_p.E220K|NCOR1_uc010coz.2_Missense_Mutation_p.E36K|NCOR1_uc010cpa.2_Missense_Mutation_p.E220K	p.E220K	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	927	-			220			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.658G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704610	0.68615	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D;D	0.71674	0.97;0.97;0.97;0.757;0.978;0.998	P;P;P;B;P;D	0.78314	0.77;0.77;0.77;0.324;0.867;0.991	T	0.57808	-0.7747	10	0.59425	D	0.04	-12.7619	18.4883	0.90838	0.0:1.0:0.0:0.0	.	220;220;220;111;220;220	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	K	220;220;111;220;111;220;220	ENSP00000268712:E220K;ENSP00000379192:E220K;ENSP00000379189:E111K;ENSP00000407998:E220K;ENSP00000387727:E220K	ENSP00000268712:E220K	E	-	1	0	NCOR1	16002873	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.757000	0.85209	2.627000	0.88993	0.655000	0.94253	GAG		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	16062148	C	T	16062148	3	4	189	1	0	0	0	0	1	0	0	0	10235	835	29	3	6828	3	NCOR1	17	16062148	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	14427615	16062148	65133062	37	13346											
SLC4A1	6521	broad.mit.edu	37	chr17	42335476	42335476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaataggggtagcggcgcCggatatcacgcaccaggccc	9	5	15	12	4	1	0	1	0	0	0	1	1	1	1	3	6	1	3	3	6	4	4	rs201280873		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:42335476C>T	ENST00000262418.6	-	11	1315	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	387					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTAGCGGCGCCGGATATCACG	0.587													C|||	1	0.000199681	0	0	5008	,	,		17877	0.001		0	False		,,,				2504	0					uc002igf.4																			0		p.R387W(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1159-1161)cGg>cAg		Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	79	84	82		1160	-1.5	0.2	17		82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC4A1	NM_000342.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	387/912	42335476	2,13004	2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335476C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1160G>A	17.37:g.42335476C>T	ENSP00000262418:p.Arg387Gln					SLC4A1_uc021tyc.1_Intron	p.R387Q	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1309	-		Breast(137;0.014)|Prostate(33;0.0181)	387					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1160G>A	CCDS11481.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.62	2.591261	0.46214	0.0	2.33E-4	ENSG00000004939	ENST00000262418	T	0.79940	-1.32	4.82	-1.53	0.08611	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.735360	0.12309	N	0.480363	T	0.73489	0.3593	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.29590	0.175;0.25	B;B	0.28232	0.033;0.087	T	0.63116	-0.6709	10	0.49607	T	0.09	.	11.0146	0.47681	0.0:0.6513:0.0:0.3487	.	387;387	E2RVJ0;P02730	.;B3AT_HUMAN	Q	387	ENSP00000262418:R387Q	ENSP00000262418:R387Q	R	-	2	0	SLC4A1	39691002	0.000000	0.05858	0.176000	0.23000	0.963000	0.63663	-0.320000	0.08028	-0.143000	0.11334	0.561000	0.74099	CGG		0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		T	42335476	C	T	42335476	3	4	189	1	0	0	0	0	1	0	0	0	14650	652	23	2	1615	2	SLC4A1	17	42335476	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	26273328	42335476	38859734	38	13347											
ABCA5	23461	broad.mit.edu	37	chr17	67290837	67290837	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacccttctttctgtatgtcTtctgaataccactaattctg	8	17	4	12	0	5	1	0	1	5	0	5	1	5	1	2	0	1	1	2	0	4	7			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:67290837T>G	ENST00000392676.3	-	11	1518	c.1454A>C	c.(1453-1455)aAg>aCg	p.K485T	ABCA5_ENST00000588877.1_Missense_Mutation_p.K485T|ABCA5_ENST00000392677.2_Missense_Mutation_p.K485T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	485	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCTGTATGTCTTCTGAATACC	0.264																																						uc002jif.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(1453-1455)aAg>aCg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							80	83	82					17																	67290837		2203	4298	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67290837T>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1454A>C	17.37:g.67290837T>G	ENSP00000376443:p.Lys485Thr					ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.K485T|ABCA5_uc002jih.2_Missense_Mutation_p.K485T|ABCA5_uc010dfe.2_Missense_Mutation_p.K485T	p.K485T	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN			9	2672	-	Breast(10;3.72e-11)		485			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1454A>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998492	0.74818	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.45276	0.9;0.9	4.83	4.83	0.62350	ABC transporter-like (1);	0.000000	0.64402	D	0.000004	T	0.74306	0.3699	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82926	-0.0215	9	.	.	.	.	13.2667	0.60137	0.0:0.0:0.0:1.0	.	485;485	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	485	ENSP00000376444:K485T;ENSP00000376443:K485T	.	K	-	2	0	ABCA5	64802432	1.000000	0.71417	0.990000	0.47175	0.841000	0.47740	6.267000	0.72546	1.919000	0.55581	0.460000	0.39030	AAG		0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		G	67290837	T	G	67290837	3	3	189	1	0	0	0	0	1	0	0	0	35	1609	56	5	3590	5	ABCA5	17	67290837	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08	24955361	67290837	13904373	39	13348											
CLDN14	23562	broad.mit.edu	37	chr21	37833394	37833394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgcagtggtcgtggtGgccctgggcggggcctggta	2	11	20	8	2	0	0	0	0	0	0	1	0	0	0	2	7	1	3	2	7	1	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr21:37833394G>A	ENST00000399137.1	-	3	1466	c.600C>T	c.(598-600)gcC>gcT	p.A200A	AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Silent_p.A200A|CLDN14_ENST00000342108.2_Silent_p.A200A|CLDN14_ENST00000399136.1_Silent_p.A200A|CLDN14_ENST00000399139.1_Silent_p.A200A|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	200					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TGGTCGTGGTGGCCCTGGGCG	0.652																																						uc021wja.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(598-600)gcC>gcT		Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.							91	85	87					21																	37833394		2203	4300	6503	SO:0001819	synonymous_variant	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833394G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.600C>T	21.37:g.37833394G>A						CLDN14_uc002yvn.1_Silent_p.A200A|CLDN14_uc002yvo.1_Silent_p.A200A|CLDN14_uc002yvk.1_Silent_p.A200A|CLDN14_uc002yvl.1_Silent_p.A200A|CLDN14_uc002yvm.1_Silent_p.A200A	p.A200A	NM_144492	NP_652763	O95500	CLD14_HUMAN			0	600	-			200						Silent	SNP	ENST00000399137.1	37	c.600C>T	CCDS13645.1																																																																																				0.652	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		A	37833394	G	A	37833394	2	1	189	1	0	0	0	0	0	0	0	1	3475	1335	47	3		3	CLDN14	21	37833394	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08		37833394	10296501	40	13349											
RFPL1	5988	broad.mit.edu	37	chr22	29834818	29834818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcacaactaacaggctttCacctcacggaaattttcttc	11	13	5	12	1	4	0	3	0	1	0	5	1	4	1	1	2	2	1	1	2	3	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr22:29834818C>T	ENST00000354373.2	+	1	247	c.38C>T	c.(37-39)tCa>tTa	p.S13L	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	13							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AACAGGCTTTCACCTCACGGA	0.463																																						uc003afn.3																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(37-39)tCa>tTa		Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.							116	111	112					22																	29834818		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834818C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.38C>T	22.37:g.29834818C>T	ENSP00000346342:p.Ser13Leu					RFPL1-AS1_uc003afm.2_Non-coding_Transcript	p.S13L	NM_021026	NP_066306	O75677	RFPL1_HUMAN			0	247	+			13					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.38C>T	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	8.761	0.923499	0.18056	.	.	ENSG00000128250	ENST00000354373	T	0.52057	0.68	1.93	0.814	0.18756	.	.	.	.	.	T	0.28101	0.0693	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	9	0.35671	T	0.21	.	5.1482	0.14996	0.0:0.7942:0.0:0.2058	.	13	O75677	RFPL1_HUMAN	L	13	ENSP00000346342:S13L	ENSP00000346342:S13L	S	+	2	0	RFPL1	28164818	0.048000	0.20356	0.003000	0.11579	0.012000	0.07955	1.630000	0.37081	0.102000	0.17638	0.493000	0.49557	TCA		0.463	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		T	29834818	C	T	29834818	3	4	189	1	0	0	0	0	1	0	0	0	13253	838	29	3	40	3	RFPL1	22	29834818	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		29834818	21469748	41	13350											
SPIN2B	474343	broad.mit.edu	37	chrX	57146697	57146697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatggtatttgcaaggttGgcatcactaatgtgagatga	12	14	11	4	0	1	2	1	2	0	1	1	3	1	2	0	3	1	4	0	3	4	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chrX:57146697G>A	ENST00000333933.3	-	2	676	c.366C>T	c.(364-366)gcC>gcT	p.A122A	SPIN2B_ENST00000374912.5_Silent_p.A122A|SPIN2B_ENST00000275988.5_Silent_p.A122A|SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000374910.3_Intron|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	122					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						TTGCAAGGTTGGCATCACTAA	0.433																																						uc004duy.3																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(364-366)gcC>gcT		Homo sapiens spindlin family, member 2B (SPIN2B), transcript variant 2, mRNA.							94	83	87					X																	57146697		2200	4295	6495	SO:0001819	synonymous_variant	474343				apoptosis|cell cycle|gamete generation	nucleus		g.chrX:57146697G>A	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.366C>T	X.37:g.57146697G>A						SPIN2B_uc004duz.3_Silent_p.A122A|SPIN2B_uc004dva.3_Silent_p.A122A|SPIN2B_uc022bxw.1_Silent_p.A122A|SPIN2B_uc011mor.1_Non-coding_Transcript	p.A122A	NM_001006682	NP_001006684	Q9BPZ2	SPI2B_HUMAN			1	625	-			122					Q7Z2M0	Silent	SNP	ENST00000333933.3	37	c.366C>T	CCDS35311.1																																																																																				0.433	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681		A	57146697	G	A	57146697	2	1	189	1	0	0	0	0	0	0	0	1	15053	1335	47	3		3	SPIN2B	23	57146697	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08		57146697	98123863	42	13351											
EPHA8	2046	broad.mit.edu	37	chr1	22927229	22927229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcggccagcgacgtgTggagcttcggcgtggtcatg	4	10	15	12	5	2	0	1	0	1	0	5	2	2	1	2	4	2	1	2	4	0	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:22927229T>C	ENST00000166244.3	+	14	2536	c.2464T>C	c.(2464-2466)Tgg>Cgg	p.W822R		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCGACGTGTGGAGCTTCGG	0.657																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2464-2466)Tgg>Cgg		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							80	84	83					1																	22927229		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927229T>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2464T>C	1.37:g.22927229T>C	ENSP00000166244:p.Trp822Arg						p.W822R	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	13	2589	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	822			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2464T>C	CCDS225.1	.	.	.	.	.	.	.	.	.	.	t	23.0	4.368591	0.82463	.	.	ENSG00000070886	ENST00000166244	T	0.74421	-0.84	4.77	4.77	0.60923	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93083	0.6493	10	0.87932	D	0	.	13.264	0.60122	0.0:0.0:0.0:1.0	.	822	P29322	EPHA8_HUMAN	R	822	ENSP00000166244:W822R	ENSP00000166244:W822R	W	+	1	0	EPHA8	22799816	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.865000	0.87049	2.008000	0.58898	0.454000	0.30748	TGG		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		C	22927229	T	C	22927229	3	2	190	1	0	0	0	0	1	0	0	0	5173	1696	59	4	2691	4	EPHA8	1	22927229	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		22927229	226323392	1	13352											
ABCD3	5825	broad.mit.edu	37	chr1	94965170	94965170	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaagcaaagaatggcGgtaagtatactgtgaagaag	18	6	14	3	1	0	4	0	1	0	3	0	5	0	4	0	3	2	3	0	3	9	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:94965170G>A	ENST00000370214.4	+	20	1764	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	ABCD3_ENST00000394233.2_Splice_Site_p.A470A|ABCD3_ENST00000536817.1_Splice_Site_p.A507A|ABCD3_ENST00000454898.2_Splice_Site_p.A604A|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	580	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAGAATGGCGGTAAGTATAC	0.418																																						uc010oto.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.e21+1		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.							154	129	138					1																	94965170		2203	4300	6503	SO:0001630	splice_region_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94965170G>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1740+1G>A	1.37:g.94965170G>A						ABCD3_uc001dqn.4_Splice_Site_p.A580_splice|ABCD3_uc010otp.2_Splice_Site_p.A507_splice|ABCD3_uc009wdr.3_Splice_Site_p.A470_splice|ABCD3_uc001dqo.4_Splice_Site_p.A268_splice	p.A604_splice	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	21	1914	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	580			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1812_splice	CCDS749.1																																																																																				0.418	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	Silent	A	94965170	G	A	94965170	5	1	190	1	0	0	0	0	0	0	1	0	62	1130	39	2	1849	2	ABCD3	1	94965170	Splice_Site	SNP	G	TCGA-27-1838-01A-01D-1494-08	72037941	94965170	154285451	2	13353											
FCRL5	83416	broad.mit.edu	37	chr1	157490328	157490328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagggccacttctgttcGcggtcagccctgagggggag	8	7	15	11	2	2	1	1	1	1	0	3	2	2	2	2	4	1	1	2	4	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:157490328G>A	ENST00000361835.3	-	12	2682	c.2525C>T	c.(2524-2526)gCg>gTg	p.A842V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.A842V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	842					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTTCTGTTCGCGGTCAGCCC	0.657																																						uc009wsm.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2524-2526)gCg>gTg		Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.							15	16	15					1																	157490328		2201	4294	6495	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490328G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2525C>T	1.37:g.157490328G>A	ENSP00000354691:p.Ala842Val					FCRL5_uc001fqu.3_Missense_Mutation_p.A842V	p.A842V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN			11	2683	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	842					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2525C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772999	0.31411	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.45276	0.9;0.9	4.85	-2.18	0.07037	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.04	B;B	0.09377	0.004;0.004	T	0.37220	-0.9715	9	0.22706	T	0.39	.	5.8544	0.18712	0.0:0.4578:0.1479:0.3943	.	842;842	A6NJE8;Q96RD9	.;FCRL5_HUMAN	V	842	ENSP00000354691:A842V;ENSP00000349434:A842V	ENSP00000349434:A842V	A	-	2	0	FCRL5	155756952	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.166000	0.09954	-0.682000	0.05197	-1.367000	0.01198	GCG		0.657	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157490328	G	A	157490328	3	1	190	1	0	0	0	0	1	0	0	0	5798	1087	38	1	432	1	FCRL5	1	157490328	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	62525158	157490328	91760293	3	13354											
SPTA1	6708	broad.mit.edu	37	chr1	158615013	158615013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctaggatcttcttgcGtttttcccaagccttctcca	5	16	7	13	1	4	0	0	0	4	0	6	1	5	1	3	2	2	1	3	2	2	6	rs372067263		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:158615013G>A	ENST00000368147.4	-	29	4339	c.4159C>T	c.(4159-4161)Cgc>Tgc	p.R1387C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1387					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTTCTTGCGTTTTTCCCAA	0.433																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4159-4161)Cgc>Tgc		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.		G	CYS/ARG	0,3822		0,0,1911	192	171	178		4159	4.1	1	1		178	2,8260		0,2,4129	no	missense	SPTA1	NM_003126.2	180	0,2,6040	AA,AG,GG		0.0242,0.0,0.0166	probably-damaging	1387/2420	158615013	2,12082	1911	4131	6042	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615013G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4159C>T	1.37:g.158615013G>A	ENSP00000357129:p.Arg1387Cys						p.R1387C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			28	4358	-	all_hematologic(112;0.0378)		1387					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4159C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192338	0.78902	0.0	2.42E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61510	0.1;0.1	5.03	4.09	0.47781	.	0.985820	0.08185	N	0.984791	T	0.74928	0.3781	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73007	-0.4118	10	0.87932	D	0	.	13.7975	0.63180	0.0:0.0:0.8455:0.1545	.	1387	P02549	SPTA1_HUMAN	C	1387	ENSP00000357130:R1387C;ENSP00000357129:R1387C	ENSP00000357129:R1387C	R	-	1	0	SPTA1	156881637	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	7.064000	0.76721	1.427000	0.47276	0.650000	0.86243	CGC		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158615013	G	A	158615013	3	1	190	1	0	0	0	0	1	0	0	0	15115	1145	40	1	3196	1	SPTA1	1	158615013	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1124685	158615013	90635608	4	13355											
CFHR4	3080	broad.mit.edu	37	chr1	196887346	196887346	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgctttcagatccatGtataataactgaagaaaaca	15	14	5	7	0	2	3	1	1	1	2	3	3	3	3	1	0	3	2	1	0	6	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:196887346G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Missense_Mutation_p.C269F|CFHR4_ENST00000367416.2_Missense_Mutation_p.C515F|CFHR4_ENST00000251424.4_Missense_Mutation_p.C269F|CFHR4_ENST00000608469.1_Missense_Mutation_p.C139F			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCAGATCCATGTATAATAACT	0.264																																						uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1546-1548)tGt>tTt		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							37	42	40					1																	196887346		2168	4285	6453	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196887346G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31239G>T	1.37:g.196887346G>T						CFH_uc021pgt.1_Missense_Mutation_p.C139F|CFH_uc009wyy.3_Missense_Mutation_p.C515F|CFH_uc001gto.3_Missense_Mutation_p.C269F	p.C516F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			9	1684	+			868			Sushi 9.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1547G>T		.	.	.	.	.	.	.	.	.	.	G	14.19	2.462806	0.43736	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.99462	-5.94;-5.94;-5.94	3.24	2.31	0.28768	Complement control module (1);	.	.	.	.	D	0.99417	0.9794	M	0.88031	2.925	0.27414	N	0.95447	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.95;0.986;0.964	D	0.97142	0.9825	9	0.59425	D	0.04	.	6.5821	0.22600	0.1481:0.0:0.8519:0.0	.	515;516;269	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	F	515;269;269;269	ENSP00000356386:C515F;ENSP00000356388:C269F;ENSP00000251424:C269F	ENSP00000251424:C269F	C	+	2	0	CFHR4	195153969	1.000000	0.71417	0.699000	0.30290	0.403000	0.30841	3.888000	0.56204	0.466000	0.27193	0.436000	0.28706	TGT		0.264	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		T	196887346	G	T	196887346	1	4	190	0	1	0	0	0	0	0	0	0	3287	1377	48	5		5	CFHR4	1	196887346	Intron	SNP	G	TCGA-27-1838-01A-01D-1494-08	38272333	196887346	52363275	5	13356											
OR2AK2	391191	broad.mit.edu	37	chr1	248129572	248129572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaataaggaagtgacGggggcagtgaggagactgtt	13	7	17	4	1	0	4	0	3	0	2	0	7	0	5	0	4	0	2	0	4	3	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248129572G>A	ENST00000366480.3	+	1	1038	c.939G>A	c.(937-939)acG>acA	p.T313T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T313T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGGAAGTGACGGGGGCAGTGA	0.433																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.2																			1	Substitution - coding silent(1)	p.T313T(2)|p.T313S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(937-939)acG>acA		Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.							102	97	99					1																	248129572		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129572G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.939G>A	1.37:g.248129572G>A						OR2L13_uc001ids.3_Intron	p.T313T	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	939	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		313					B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.939G>A	CCDS31102.1																																																																																				0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		A	248129572	G	A	248129572	2	1	190	1	0	0	0	0	0	0	0	1	10986	1103	39	2		2	OR2AK2	1	248129572	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	51242226	248129572	1121049	6	13357											
ALLC	55821	broad.mit.edu	37	chr2	3727515	3727515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatccggggcttcgacGtggacgtttcttacttcacg	6	12	12	11	5	3	0	2	0	1	0	5	3	4	1	1	3	1	2	1	3	1	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:3727515G>A	ENST00000252505.3	+	5	391	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	96					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGCTTCGACGTGGACGTTTC	0.547										HNSCC(21;0.051)																												uc010ewt.3																			0		p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(229-231)Gtg>Atg		Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.							150	158	156					2																	3727515		2110	4218	6328	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727515G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.229G>A	2.37:g.3727515G>A	ENSP00000252505:p.Val77Met	HNSCC(21;0.051)					p.V77M	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	4	390	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	96					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.229G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433280	0.83776	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	5.77	0.91146	Allantoicase domain (1);Galactose-binding domain-like (1);	0.110926	0.64402	D	0.000010	D	0.85270	0.5658	M	0.89534	3.04	0.45621	D	0.998558	D	0.89917	1.0	D	0.75020	0.985	D	0.87446	0.2398	9	0.87932	D	0	-11.2811	17.8364	0.88699	0.0:0.0:1.0:0.0	.	96	Q8N6M5	ALLC_HUMAN	M	77	.	ENSP00000252505:V77M	V	+	1	0	ALLC	3705390	1.000000	0.71417	0.984000	0.44739	0.712000	0.41017	6.678000	0.74508	2.884000	0.98904	0.655000	0.94253	GTG		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			A	3727515	G	A	3727515	3	1	190	1	0	0	0	0	1	0	0	0	534	1145	40	1	243	1	ALLC	2	3727515	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		3727515	239471858	7	13358											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696534	17696534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattgggtacagttttcCatttaaataaactttggtga	12	17	7	5	0	0	1	0	1	0	0	1	1	1	1	1	2	2	2	1	2	6	9			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:17696534C>A	ENST00000399080.2	-	1	3172	c.3149G>T	c.(3148-3150)tGg>tTg	p.W1050L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1050										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACAGTTTTCCATTTAAATAA	0.368																																						uc002rcl.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3148-3150)tGg>tTg		Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.							117	107	110					2																	17696534		1833	4082	5915	SO:0001583	missense	729475							g.chr2:17696534C>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3149G>T	2.37:g.17696534C>A	ENSP00000382030:p.Trp1050Leu					RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	p.W1050L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			0	3173	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1050						Missense_Mutation	SNP	ENST00000399080.2	37	c.3149G>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320994	0.60634	.	.	ENSG00000214842	ENST00000399080	T	0.54866	0.55	5.3	5.3	0.74995	.	.	.	.	.	T	0.60196	0.2250	L	0.32530	0.975	0.31282	N	0.690422	D	0.76494	0.999	D	0.79784	0.993	T	0.62932	-0.6749	9	0.87932	D	0	-2.2399	9.7457	0.40446	0.0:0.9005:0.0:0.0995	.	1050	Q09MP3	R51A2_HUMAN	L	1050	ENSP00000382030:W1050L	ENSP00000382030:W1050L	W	-	2	0	RAD51AP2	17560015	1.000000	0.71417	0.982000	0.44146	0.653000	0.38743	2.625000	0.46452	2.640000	0.89533	0.655000	0.94253	TGG		0.368	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		A	17696534	C	A	17696534	3	1	190	1	0	0	0	0	1	0	0	0	12987	595	21	5	342	5	RAD51AP2	2	17696534	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	13969019	17696534	225502839	8	13359											
MSH6	2956	broad.mit.edu	37	chr2	48026087	48026087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggaaggaaacgccctcagCcaccaaacaagcaactagca	17	3	8	13	1	1	0	1	0	0	0	1	2	1	2	3	2	6	2	3	2	7	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:48026087C>T	ENST00000234420.5	+	4	1117	c.965C>T	c.(964-966)gCc>gTc	p.A322V	MSH6_ENST00000538136.1_Missense_Mutation_p.A20V|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.A192V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	322					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGCCCTCAGCCACCAAACAA	0.473			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(964-966)gCc>gTc	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.							148	157	154					2																	48026087		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026087C>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.965C>T	2.37:g.48026087C>T	ENSP00000234420:p.Ala322Val					MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.3_Missense_Mutation_p.A20V|MSH6_uc010yoj.2_Missense_Mutation_p.A20V	p.A322V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	1117	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	322					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.965C>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	8.720	0.914229	0.17907	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87650	-1.87;-2.04;-2.28	4.0	0.899	0.19271	.	0.441952	0.25233	N	0.032145	T	0.77758	0.4178	L	0.35723	1.085	0.09310	N	0.999991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.61182	-0.7114	10	0.22706	T	0.39	-0.9786	9.6006	0.39601	0.0:0.7199:0.0:0.2801	.	192;322;322	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	322;320;192;20	ENSP00000234420:A322V;ENSP00000446475:A192V;ENSP00000438580:A20V	ENSP00000234420:A322V	A	+	2	0	MSH6	47879591	0.019000	0.18553	0.005000	0.12908	0.619000	0.37552	2.812000	0.47994	0.361000	0.24292	0.561000	0.74099	GCC		0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		T	48026087	C	T	48026087	3	4	190	1	0	0	0	0	1	0	0	0	9874	739	26	3	979	3	MSH6	2	48026087	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	30329553	48026087	195173286	9	13360											
TSGA10	80705	broad.mit.edu	37	chr2	99634812	99634812	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcttgtacggccctctcCctaaagcaaaatagtgatgc	11	11	8	11	1	2	1	0	1	2	0	3	1	2	1	2	1	3	3	2	1	6	5			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:99634812C>T	ENST00000393483.3	-	20	2767	c.1923G>A	c.(1921-1923)agG>agA	p.R641R	TSGA10_ENST00000539964.1_Splice_Site_p.R641R|TSGA10_ENST00000410001.1_Splice_Site_p.R641R|TSGA10_ENST00000355053.4_Splice_Site_p.R641R	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	641	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGGCCCTCTCCCTAAAGCAAA	0.323																																						uc002szg.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.e18-1		Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.							92	92	92					2																	99634812		2203	4300	6503	SO:0001630	splice_region_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99634812C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1923-1G>A	2.37:g.99634812C>T						TSGA10_uc002szh.4_Splice_Site_p.R641_splice|TSGA10_uc002szi.4_Splice_Site_p.R641_splice|TSGA10_uc010fin.1_Splice_Site_p.R641_splice	p.R641_splice	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			18	2551	-			641			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.1923_splice	CCDS2037.1																																																																																				0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Silent	T	99634812	C	T	99634812	5	4	190	1	0	0	0	0	0	0	1	0	16614	637	22	3	181	3	TSGA10	2	99634812	Splice_Site	SNP	C	TCGA-27-1838-01A-01D-1494-08	51608725	99634812	143564561	10	13361											
IL1R1	3554	broad.mit.edu	37	chr2	102789175	102789175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcaaacaaaagaaggAgtaccctcatcacagtgctt	15	8	7	11	0	2	1	2	0	0	1	3	2	3	2	2	1	4	3	2	1	5	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:102789175A>T	ENST00000410023.1	+	9	1186	c.868A>T	c.(868-870)Agt>Tgt	p.S290C	IL1R1_ENST00000233946.3_Missense_Mutation_p.S290C|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409288.1_Missense_Mutation_p.S290C|IL1R1_ENST00000409929.1_Missense_Mutation_p.S290C|IL1R1_ENST00000409329.1_Missense_Mutation_p.S290C|IL1R1_ENST00000424272.1_Missense_Mutation_p.S290C|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	290	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAAAGAAGGAGTACCCTCAT	0.348																																						uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(868-870)Agt>Tgt		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)						116	107	110					2																	102789175		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102789175A>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.868A>T	2.37:g.102789175A>T	ENSP00000386380:p.Ser290Cys					IL1R1_uc010fix.3_Missense_Mutation_p.S290C|IL1R1_uc002tbr.3_Missense_Mutation_p.S290C	p.S290C	NM_000877	NP_000868	P14778	IL1R1_HUMAN			8	1186	+			290			Ig-like C2-type 3.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.868A>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987560	0.53934	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89;3.89;3.89	4.32	-3.44	0.04796	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.533630	0.00977	N	0.003322	T	0.10508	0.0257	L	0.53249	1.67	0.09310	N	1	P;D;D	0.89917	0.708;0.999;1.0	P;D;D	0.75484	0.48;0.986;0.984	T	0.34775	-0.9815	10	0.38643	T	0.18	.	1.3855	0.02239	0.2952:0.149:0.0954:0.4604	.	290;290;290	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	C	290;290;290;146;290;290;290	ENSP00000386776:S290C;ENSP00000415366:S290C;ENSP00000387131:S290C;ENSP00000410461:S146C;ENSP00000386478:S290C;ENSP00000386380:S290C;ENSP00000233946:S290C	ENSP00000233946:S290C	S	+	1	0	IL1R1	102155607	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.951000	0.03885	-0.698000	0.05085	0.482000	0.46254	AGT		0.348	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			T	102789175	A	T	102789175	3	4	190	1	0	0	0	0	1	0	0	0	7658	304	11	5	894	5	IL1R1	2	102789175	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	3154363	102789175	140410198	11	13362											
SLC9A4	389015	broad.mit.edu	37	chr2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagattctgatccgccGccagaacaccttaagggaga	14	7	10	10	2	1	4	0	1	1	3	2	6	2	4	4	1	1	0	4	1	4	3	rs368438401		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:103141556G>A	ENST00000295269.4	+	10	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	631					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1891-1893)cGc>cAc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	155	161	159		1892	5.8	1	2		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	631/799	103141556	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141556G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1892G>A	2.37:g.103141556G>A	ENSP00000295269:p.Arg631His						p.R631H	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			9	2349	+			631					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1892G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984733	0.74474	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.44083	0.93	5.84	5.84	0.93424	.	0.213337	0.50627	D	0.000109	T	0.69106	0.3074	M	0.83603	2.65	0.45962	D	0.998788	D	0.89917	1.0	D	0.78314	0.991	T	0.70912	-0.4743	10	0.56958	D	0.05	.	18.9173	0.92510	0.0:0.0:1.0:0.0	.	631	Q6AI14	SL9A4_HUMAN	H	631	ENSP00000295269:R631H	ENSP00000295269:R631H	R	+	2	0	SLC9A4	102507988	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	3.351000	0.52232	2.765000	0.95021	0.643000	0.83706	CGC		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		A	103141556	G	A	103141556	3	1	190	1	0	0	0	0	1	0	0	0	14716	1087	38	1	1930	1	SLC9A4	2	103141556	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	352381	103141556	140057817	12	13363											
XIRP2	129446	broad.mit.edu	37	chr2	168103543	168103543	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttaaagaatcaagccatCgatggaaagaatctaaacag	19	7	7	8	1	2	2	1	0	1	2	3	4	2	3	1	1	2	0	1	1	8	2	rs374157391		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:168103543C>T	ENST00000409195.1	+	9	5730	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R1659*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R1881*|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1706					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAGCCATCGATGGAAAGA	0.378																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5641-5643)Cga>Tga		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.		C	,,stop/ARG,,stop/ARG	0,3772		0,0,1886	83	75	78		,,4975,,5641	2.5	0	2		78	1,8245		0,1,4122	no	intron,intron,stop-gained,intron,stop-gained	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,1,6008	TT,TC,CC		0.0121,0.0,0.0083	,,,,	,,1659/3328,,1881/3550	168103543	1,12017	1886	4123	6009	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103543C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5641C>T	2.37:g.168103543C>T	ENSP00000386840:p.Arg1881*					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.3_Intron	p.R1881*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5730	+			1706					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.5641C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	41	8.796069	0.98956	0.0	1.21E-4	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.46	2.5	0.30297	.	0.915951	0.09402	N	0.806985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.27	13.9003	0.63799	0.5654:0.4346:0.0:0.0	.	.	.	.	X	1881;1881;1659	.	ENSP00000295237:R1881X	R	+	1	2	XIRP2	167811789	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.642000	0.24735	0.288000	0.22398	0.650000	0.86243	CGA		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168103543	C	T	168103543	4	4	190	1	0	0	0	0	0	1	0	0	17427	876	31	2	5671	2	XIRP2	2	168103543	Nonsense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	64961987	168103543	75095830	13	13364											
TTN	7273	broad.mit.edu	37	chr2	179431526	179431526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcctgtcactcttagacGcaaatctgtaatgcggcgtt	10	13	8	10	3	3	1	1	0	2	1	4	1	4	1	1	1	1	3	1	1	4	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:179431526G>A	ENST00000591111.1	-	276	74634	c.74410C>T	c.(74410-74412)Cgt>Tgt	p.R24804C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17572C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26445C|TTN_ENST00000342992.6_Missense_Mutation_p.R23877C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17505C|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17380C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24804	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTTAGACGCAAATCTGTA	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(71629-71631)Cgt>Tgt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							73	73	73					2																	179431526		1858	4107	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431526G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74410C>T	2.37:g.179431526G>A	ENSP00000465570:p.Arg24804Cys					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17572C|TTN_uc021vta.1_Missense_Mutation_p.R17505C|TTN_uc021vtb.1_Missense_Mutation_p.R17380C	p.R23877C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	71854	-			24804			Ig-like 120.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71629C>T		.	.	.	.	.	.	.	.	.	.	G	11.45	1.641391	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76702	0.4024	M	0.80847	2.515	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79305	-0.1858	9	0.87932	D	0	.	14.0039	0.64451	0.0:0.0:0.7344:0.2656	.	17380;17505;17572;24804	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23877;17380;17572;17505;17378	ENSP00000343764:R23877C;ENSP00000434586:R17380C;ENSP00000340554:R17572C;ENSP00000352154:R17505C	ENSP00000340554:R17572C	R	-	1	0	TTN	179139772	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	3.966000	0.56795	2.706000	0.92434	0.561000	0.74099	CGT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179431526	G	A	179431526	3	1	190	1	0	0	0	0	1	0	0	0	16732	1087	38	1	28794	1	TTN	2	179431526	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11327983	179431526	63767847	14	13365											
TRIM71	131405	broad.mit.edu	37	chr3	32932739	32932739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgcatccagatcttcacGttcgagggccagttcctcct	7	11	8	15	3	2	1	1	0	1	1	7	2	5	1	4	1	0	3	4	1	0	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:32932739G>A	ENST00000383763.5	+	4	2106	c.2043G>A	c.(2041-2043)acG>acA	p.T681T		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	681					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATCTTCACGTTCGAGGGCC	0.582																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2041-2043)acG>acA		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							55	61	59					3																	32932739		2117	4234	6351	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932739G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2043G>A	3.37:g.32932739G>A							p.T681T	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			3	2106	+			681						Silent	SNP	ENST00000383763.5	37	c.2043G>A	CCDS43060.1																																																																																				0.582	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32932739	G	A	32932739	2	1	190	1	0	0	0	0	0	0	0	1	16541	1132	40	1		1	TRIM71	3	32932739	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08		32932739	165089691	15	13366											
AMIGO3	29925	broad.mit.edu	37	chr3	49756785	49756785	+	3'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaggtcggcagcgcagatAcatttgtaggggcagttgtg	9	9	16	7	2	0	1	0	0	0	1	1	1	0	1	0	4	3	6	0	4	2	4	rs185704507	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:49756785A>G	ENST00000480687.1	-	0	3599				AMIGO3_ENST00000320431.7_Silent_p.C38C|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.C38C			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGCAGATACATTTGTAGG	0.647											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	3	0.000599042	0.0023	0	5008	,	,		17556	0		0	False		,,,				2504	0					uc003cxj.3																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(112-114)tgT>tgC		Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.							57	64	61					3																	49756785		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756785A>G	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2400T>C	3.37:g.49756785A>G			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	p.C38C	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	454	-			38			LRRNT.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.114T>C	CCDS2803.1																																																																																				0.647	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		G	49756785	A	G	49756785	1	3	190	0	1	0	0	0	0	0	0	0	577	389	14	4		4	AMIGO3	3	49756785	3'UTR	SNP	A	TCGA-27-1838-01A-01D-1494-08	16824046	49756785	148265645	16	13367											
HTR1F	3355	broad.mit.edu	37	chr3	88040099	88040099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgttcccttgcagTcacagattttcttgtggctg	6	19	8	8	0	2	1	1	0	1	1	3	1	3	1	1	1	1	3	1	1	1	8			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:88040099T>A	ENST00000319595.4	+	1	254	c.200T>A	c.(199-201)gTc>gAc	p.V67D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCCCTTGCAGTCACAGATTTT	0.463																																						uc003dqr.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(199-201)gTc>gAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						119	113	115					3																	88040099		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040099T>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.200T>A	3.37:g.88040099T>A	ENSP00000322924:p.Val67Asp					HTR1F_uc021xbd.1_Missense_Mutation_p.V67D	p.V67D	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	358	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	67						Missense_Mutation	SNP	ENST00000319595.4	37	c.200T>A	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741698	0.69304	.	.	ENSG00000179097	ENST00000319595	T	0.44083	0.93	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84516	0.0625	10	0.87932	D	0	.	13.2197	0.59881	0.0:0.0:0.0:1.0	.	67	P30939	5HT1F_HUMAN	D	67	ENSP00000322924:V67D	ENSP00000322924:V67D	V	+	2	0	HTR1F	88122789	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	6.242000	0.72376	2.019000	0.59389	0.477000	0.44152	GTC		0.463	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		A	88040099	T	A	88040099	3	1	190	1	0	0	0	0	1	0	0	0	7440	1667	58	5	202	5	HTR1F	3	88040099	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	38283314	88040099	109982331	17	13368											
FAM55C	91775	broad.mit.edu	37	chr3	101520152	101520152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtttcctcccaggtgacagGaattagccgaaatccctact	10	11	8	12	1	0	1	0	1	0	0	3	3	3	2	4	2	2	1	4	2	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:101520152G>A	ENST00000491511.2	+	5	1123	c.167G>A	c.(166-168)gGa>gAa	p.G56E	NXPE3_ENST00000273347.5_Missense_Mutation_p.G56E|NXPE3_ENST00000477909.1_Missense_Mutation_p.G56E|NXPE3_ENST00000422132.1_Missense_Mutation_p.G56E	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	56						extracellular region (GO:0005576)											CAGGTGACAGGAATTAGCCGA	0.522																																						uc003dvn.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						c.(166-168)gGa>gAa		Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.							135	131	132					3																	101520152		2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101520152G>A	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.167G>A	3.37:g.101520152G>A	ENSP00000417485:p.Gly56Glu					FAM55C_uc010hpn.3_Missense_Mutation_p.G56E	p.G56E	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			4	804	+			56					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.167G>A	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568189	0.28003	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.67	4.79	0.61399	.	0.619109	0.17311	N	0.178870	T	0.06142	0.0159	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.42189	-0.9466	10	0.02654	T	1	-1.274	7.7355	0.28812	0.1034:0.0:0.7359:0.1607	.	56	Q969Y0	FA55C_HUMAN	E	56	ENSP00000273347:G56E;ENSP00000417485:G56E;ENSP00000418369:G56E;ENSP00000396421:G56E	ENSP00000273347:G56E	G	+	2	0	FAM55C	103002842	0.530000	0.26330	0.115000	0.21578	0.955000	0.61496	1.925000	0.40074	1.499000	0.48617	0.655000	0.94253	GGA		0.522	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		A	101520152	G	A	101520152	3	1	190	1	0	0	0	0	1	0	0	0	5586	1174	41	3	173	3	FAM55C	3	101520152	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	13480053	101520152	96502278	18	13369											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		899	Substitution - Missense(899)	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	190	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	77415939	178936091	19086339	19	13370											
GABRB1	2560	broad.mit.edu	37	chr4	47322182	47322182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgatggatcttcgaaGatatccattggatgagcaga	13	12	11	5	1	1	4	0	2	1	2	3	7	2	6	1	2	1	2	1	2	3	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:47322182G>T	ENST00000295454.3	+	5	792	c.500G>T	c.(499-501)aGa>aTa	p.R167I	GABRB1_ENST00000538619.1_Missense_Mutation_p.R97I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	167					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATCTTCGAAGATATCCATTG	0.418																																						uc003gxh.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(499-501)aGa>aTa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						120	107	111					4																	47322182		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47322182G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.500G>T	4.37:g.47322182G>T	ENSP00000295454:p.Arg167Ile					GABRB1_uc011bze.2_Missense_Mutation_p.R97I	p.R167I	NM_000812	NP_000803	P18505	GBRB1_HUMAN			4	874	+			167					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.500G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016566	0.93404	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.77750	-1.12;-1.12	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.345212	0.27016	N	0.021353	D	0.87581	0.6213	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.83275	0.936;0.996	D	0.88047	0.2785	10	0.59425	D	0.04	-19.1509	16.2533	0.82498	0.0:0.0:1.0:0.0	.	97;167	F5GXV5;P18505	.;GBRB1_HUMAN	I	167;97	ENSP00000295454:R167I;ENSP00000440330:R97I	ENSP00000295454:R167I	R	+	2	0	GABRB1	47016939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.151000	0.94674	2.697000	0.92050	0.585000	0.79938	AGA		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			T	47322182	G	T	47322182	3	4	190	1	0	0	0	0	1	0	0	0	6166	942	33	5	518	5	GABRB1	4	47322182	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		47322182	143832094	20	13371											
HPSE	10855	broad.mit.edu	37	chr4	84216623	84216623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggtttgatcatccacCatctttagagttagaccatt	11	13	8	9	0	2	3	1	1	1	2	3	3	3	3	3	2	0	3	3	2	3	5			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:84216623C>G	ENST00000405413.2	-	13	1642	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	HPSE_ENST00000513463.1_Missense_Mutation_p.M444I|HPSE_ENST00000512196.1_Missense_Mutation_p.M428I|HPSE_ENST00000311412.5_Missense_Mutation_p.M502I	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	502					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GATCATCCACCATCTTTAGAG	0.443																																						uc003hoj.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1504-1506)atG>atC		Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	Heparin(DB01109)						88	88	88					4																	84216623		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84216623C>G	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1506G>C	4.37:g.84216623C>G	ENSP00000384262:p.Met502Ile					HPSE_uc003hoi.3_Missense_Mutation_p.M444I|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.M245I|HPSE_uc003hok.4_Missense_Mutation_p.M502I|HPSE_uc011cct.2_Missense_Mutation_p.M428I	p.M502I	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	11	1605	-		Hepatocellular(203;0.114)	502					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1506G>C	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071815	0.36566	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.47528	0.84;0.84;0.84;0.88	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.72576	2.205	0.80722	D	1	B;B;B;B	0.22746	0.025;0.043;0.072;0.074	B;B;B;B	0.24848	0.009;0.025;0.056;0.025	T	0.50955	-0.8766	10	0.51188	T	0.08	-34.4617	18.0903	0.89472	0.0:1.0:0.0:0.0	.	428;444;444;502	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	I	502;502;428;444	ENSP00000308107:M502I;ENSP00000384262:M502I;ENSP00000423265:M428I;ENSP00000421365:M444I	ENSP00000308107:M502I	M	-	3	0	HPSE	84435647	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	3.477000	0.53151	2.809000	0.96659	0.467000	0.42956	ATG		0.443	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		G	84216623	C	G	84216623	3	3	190	1	0	0	0	0	1	0	0	0	7344	594	21	5	129	5	HPSE	4	84216623	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	36894441	84216623	106937653	21	13372											
LRIT3	345193	broad.mit.edu	37	chr4	110791269	110791269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaatttaaaggtggCaaagaatggaagtaagcttc	19	8	11	3	0	0	2	0	0	0	2	1	4	0	3	0	3	1	3	0	3	9	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:110791269C>A	ENST00000594814.1	+	4	1364	c.1364C>A	c.(1363-1365)gCa>gAa	p.A455E	LRIT3_ENST00000409621.2_Missense_Mutation_p.A272E|LRIT3_ENST00000327908.3_Missense_Mutation_p.A272E|LRIT3_ENST00000379920.3_Missense_Mutation_p.A410E	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	455					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTAAAGGTGGCAAAGAATGGA	0.458																																						uc003hzx.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1228-1230)gCa>gAa		Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.							69	71	70					4																	110791269		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791269C>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1364C>A	4.37:g.110791269C>A	ENSP00000469759:p.Ala455Glu					LRIT3_uc003hzw.4_Missense_Mutation_p.A272E	p.A410E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	2	1422	+			410					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1229C>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	C	0	-2.709603	0.00094	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.56444	0.46;0.63;0.46	5.06	2.48	0.30137	.	0.164007	0.28977	N	0.013536	T	0.15696	0.0378	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33471	-0.9867	10	0.02654	T	1	.	5.3925	0.16251	0.6349:0.1326:0.0:0.2324	.	410;272	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	E	272;410;272	ENSP00000328222:A272E;ENSP00000369252:A410E;ENSP00000386734:A272E	ENSP00000328222:A272E	A	+	2	0	LRIT3	111010718	0.366000	0.25014	0.007000	0.13788	0.002000	0.02628	2.122000	0.41987	0.753000	0.32945	-0.274000	0.10170	GCA		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		A	110791269	C	A	110791269	3	1	190	1	0	0	0	0	1	0	0	0	8949	710	25	5	1239	5	LRIT3	4	110791269	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	26574646	110791269	80363007	22	13373											
MYOZ2	51778	broad.mit.edu	37	chr4	120072132	120072132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggctatttaagatgcGtcaaagaagatctgacaaat	15	10	9	7	1	2	4	1	1	1	3	2	4	2	4	1	1	2	1	1	1	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:120072132G>A	ENST00000307128.5	+	3	395	c.182G>A	c.(181-183)cGt>cAt	p.R61H		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TTTAAGATGCGTCAAAGAAGA	0.398																																						uc003icp.4																			0		p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(181-183)cGt>cAt		Homo sapiens myozenin 2 (MYOZ2), mRNA.							134	125	128					4																	120072132		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120072132G>A	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.182G>A	4.37:g.120072132G>A	ENSP00000306997:p.Arg61His						p.R61H	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			2	395	+			61						Missense_Mutation	SNP	ENST00000307128.5	37	c.182G>A	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258074	0.95368	.	.	ENSG00000172399	ENST00000307128	D	0.82526	-1.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92940	0.6371	10	0.87932	D	0	-11.1782	18.7213	0.91694	0.0:0.0:1.0:0.0	.	61	Q9NPC6	MYOZ2_HUMAN	H	61	ENSP00000306997:R61H	ENSP00000306997:R61H	R	+	2	0	MYOZ2	120291580	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.765000	0.91724	2.715000	0.92844	0.650000	0.86243	CGT		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			A	120072132	G	A	120072132	3	1	190	1	0	0	0	0	1	0	0	0	10096	1145	40	1	188	1	MYOZ2	4	120072132	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	9280863	120072132	71082144	23	13374											
FSTL5	56884	broad.mit.edu	37	chr4	162577565	162577565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggttccttgaatggcaCagctcagaacagcactttgt	10	11	10	10	0	2	2	2	1	0	1	3	2	3	2	1	2	3	4	1	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:162577565C>G	ENST00000306100.5	-	7	1245	c.809G>C	c.(808-810)tGt>tCt	p.C270S	FSTL5_ENST00000536695.1_Missense_Mutation_p.C269S|FSTL5_ENST00000427802.2_Missense_Mutation_p.C269S|FSTL5_ENST00000379164.4_Missense_Mutation_p.C269S|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	270	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAATGGCACAGCTCAGAAC	0.393																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(808-810)tGt>tCt		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							101	94	96					4																	162577565		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577565C>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.809G>C	4.37:g.162577565C>G	ENSP00000305334:p.Cys270Ser					FSTL5_uc003iqi.3_Missense_Mutation_p.C269S|FSTL5_uc010iqv.3_Missense_Mutation_p.C269S	p.C270S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1245	-	all_hematologic(180;0.24)		270			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.809G>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071282	0.76301	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.99585	1.0974	10	0.87932	D	0	.	18.4926	0.90853	0.0:1.0:0.0:0.0	.	269;269;270	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	270;269;269;269	ENSP00000305334:C270S;ENSP00000368462:C269S;ENSP00000389270:C269S;ENSP00000440409:C269S	ENSP00000305334:C270S	C	-	2	0	FSTL5	162797015	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.421000	0.80204	2.678000	0.91216	0.650000	0.86243	TGT		0.393	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		G	162577565	C	G	162577565	3	3	190	1	0	0	0	0	1	0	0	0	6080	478	17	5	1774	5	FSTL5	4	162577565	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	42505433	162577565	28576711	24	13375											
OSMR	9180	broad.mit.edu	37	chr5	38904563	38904563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagccacttctggaaaTggagtgaatggagtggtcag	11	9	14	7	0	2	1	1	1	1	0	2	4	2	4	2	4	2	0	2	4	2	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:38904563T>A	ENST00000274276.3	+	9	1645	c.1243T>A	c.(1243-1245)Tgg>Agg	p.W415R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	415	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTCTGGAAATGGAGTGAATG	0.488																																						uc003jln.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1243-1245)Tgg>Agg		Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.							132	114	120					5																	38904563		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38904563T>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1243T>A	5.37:g.38904563T>A	ENSP00000274276:p.Trp415Arg						p.W415R	NM_003999	NP_003990	Q99650	OSMR_HUMAN			8	1645	+	all_lung(31;0.000365)		415			Fibronectin type-III 1.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1243T>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044049	0.75732	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.53640	0.61;0.63	5.7	5.7	0.88788	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.058286	0.64402	D	0.000001	T	0.69187	0.3083	M	0.81802	2.56	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.73767	-0.3879	10	0.87932	D	0	.	12.3715	0.55258	0.0:0.0:0.0:1.0	.	415	Q99650	OSMR_HUMAN	R	415;22	ENSP00000274276:W415R;ENSP00000423913:W22R	ENSP00000274276:W415R	W	+	1	0	OSMR	38940320	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.296000	0.59055	2.185000	0.69588	0.528000	0.53228	TGG		0.488	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		A	38904563	T	A	38904563	3	1	190	1	0	0	0	0	1	0	0	0	11292	1464	51	5	1311	5	OSMR	5	38904563	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		38904563	142010697	25	13376											
COX7C	1350	broad.mit.edu	37	chr5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttttccaacagaatttgCcattttcagtggaaaacaag	13	15	6	7	0	1	1	1	0	0	1	2	2	2	2	2	1	3	0	2	1	5	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:85915176C>T	ENST00000509578.1	+	2	182	c.82C>T	c.(82-84)Cca>Tca	p.P28S	COX7C_ENST00000515763.1_Missense_Mutation_p.P28S|COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|COX7C_ENST00000513124.1_3'UTR|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	28					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAGAATTTGCCATTTTCAGT	0.338																																						uc003kir.3																			0				endometrium(1)|lung(1)	2						c.(82-84)Cca>Tca		Homo sapiens cytochrome c oxidase subunit VIIc (COX7C), nuclear gene encoding mitochondrial protein, mRNA.							112	108	109					5																	85915176		2203	4300	6503	SO:0001583	missense	1350				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr5:85915176C>T	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.82C>T	5.37:g.85915176C>T	ENSP00000425759:p.Pro28Ser					MIR3607_uc021yba.1_5'Flank	p.P28S	NM_001867	NP_001858	P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	1	171	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	28					Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	37	c.82C>T	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830793	0.71258	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80937	-0.1159	8	0.62326	D	0.03	-13.1853	15.1019	0.72284	0.0:1.0:0.0:0.0	.	28	P15954	COX7C_HUMAN	S	28	.	ENSP00000247655:P28S	P	+	1	0	COX7C	85950932	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.376000	0.66178	2.622000	0.88805	0.655000	0.94253	CCA		0.338	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867		T	85915176	C	T	85915176	3	4	190	1	0	0	0	0	1	0	0	0	3784	739	26	3	88	3	COX7C	5	85915176	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	47010613	85915176	95000084	26	13377											
PCDHA12	56137	broad.mit.edu	37	chr5	140255258	140255258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgttccgggtggcGtccaaaagacacggggacct	7	6	14	14	5	0	1	0	0	0	1	2	2	2	2	5	4	0	1	5	4	2	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:140255258G>A	ENST00000398631.2	+	1	201	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.632																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(199-201)gcG>gcA		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.							47	57	54					5																	140255258		2199	4274	6473	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140255258G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.201G>A	5.37:g.140255258G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A67A	p.A67A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	328	+			85			Cadherin 1.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.201G>A	CCDS47285.1																																																																																				0.632	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140255258	G	A	140255258	2	1	190	1	0	0	0	0	0	0	0	1	11522	1132	40	1		1	PCDHA12	5	140255258	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	54340082	140255258	40660002	27	13378											
SH3RF2	153769	broad.mit.edu	37	chr5	145393533	145393533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgccatatggtagagaTcagcaccccagtgctcatca	11	7	11	12	1	3	1	3	0	0	1	3	2	3	1	3	2	2	3	3	2	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:145393533T>G	ENST00000511217.1	+	4	1020	c.968T>G	c.(967-969)aTc>aGc	p.I323S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I323S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	323					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTAGAGATCAGCACCCCA	0.567																																						uc003lnt.3																			0		p.E322K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(967-969)aTc>aGc		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							120	117	118					5																	145393533		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393533T>G	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.968T>G	5.37:g.145393533T>G	ENSP00000424497:p.Ile323Ser					SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	p.I323S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1206	+			323					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.968T>G	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542299	0.85917	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.08370	3.1;3.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.27053	0.805	0.53005	D	0.999966	D	0.76494	0.999	D	0.83275	0.996	T	0.01791	-1.1273	10	0.56958	D	0.05	-32.2409	15.8381	0.78814	0.0:0.0:0.0:1.0	.	323	Q8TEC5	SH3R2_HUMAN	S	323	ENSP00000352028:I323S;ENSP00000424497:I323S	ENSP00000352028:I323S	I	+	2	0	SH3RF2	145373726	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.689000	0.74562	2.202000	0.70862	0.482000	0.46254	ATC		0.567	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		G	145393533	T	G	145393533	3	3	190	1	0	0	0	0	1	0	0	0	14259	1435	50	5	982	5	SH3RF2	5	145393533	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	5138275	145393533	35521727	28	13379											
ITPR3	3710	broad.mit.edu	37	chr6	33644615	33644615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagctggaccggctgcGgaccatggtggagaagtcag	8	6	18	9	3	1	1	1	0	0	1	2	5	1	4	2	6	2	2	2	6	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:33644615G>A	ENST00000374316.5	+	27	4413	c.3353G>A	c.(3352-3354)cGg>cAg	p.R1118Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1118Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1118					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GACCGGCTGCGGACCATGGTG	0.597																																						uc021ywr.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(3352-3354)cGg>cAg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.							92	79	84					6																	33644615		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33644615G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3353G>A	6.37:g.33644615G>A	ENSP00000363435:p.Arg1118Gln						p.R1118Q	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			25	3577	+			1118					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.3353G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930543	0.97116	.	.	ENSG00000096433	ENST00000374316	D	0.93019	-3.15	5.22	5.22	0.72569	.	0.064020	0.64402	D	0.000006	D	0.96738	0.8935	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97223	0.9879	10	0.87932	D	0	-36.9977	18.8137	0.92070	0.0:0.0:1.0:0.0	.	1118	Q14573	ITPR3_HUMAN	Q	1118	ENSP00000363435:R1118Q	ENSP00000363435:R1118Q	R	+	2	0	ITPR3	33752593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.435000	0.82474	0.655000	0.94253	CGG		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33644615	G	A	33644615	3	1	190	1	0	0	0	0	1	0	0	0	7922	1116	39	2	3455	2	ITPR3	6	33644615	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		33644615	137470452	29	13380											
KCNK16	83795	broad.mit.edu	37	chr6	39282798	39282814	+	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC	-																															tcagcttcccagtcctttctTggatatggggaagtcctggg																								rs147542213|rs11756091	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	ENST00000373229.5	-	6	907_923	c.894_910delGGACTTCCCCATATCCA	c.(892-912)caggacttccccatatccaagfs	p.DFPISK299fs	KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Frame_Shift_Del_p.DFPISK187fs|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000373227.4_Frame_Shift_Del_p.DFPISK252fs	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	299					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA	0.59																																						uc003oor.4																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13								Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.894_910delGGACTTCCCCATATCCA	6.37:g.39282798_39282814delTGGATATGGGGAAGTCC	ENSP00000362326:p.Asp299fs					KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Frame_Shift_Del_p.Q298fs|KCNK16_uc010jwy.3_Frame_Shift_Del_p.Q251fs		NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN			4		-								B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Frame_Shift_Del	DEL	ENST00000373229.5	37		CCDS4843.1																																																																																				0.59	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		-	39282814	TGGATATGGGGAAGTCC	-	39282798	7	5	190	1	0	1	0	1	0	0	0	0	8063	1821	63	0	23	0	KCNK16	6	39282798	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TCGA-27-1838-01A-01D-1494-08	5638183	39282798	131832269	30	13381											
CUL9	23113	broad.mit.edu	37	chr6	43164484	43164484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaagagctgagagacaCgttgtttaggcactcaggga	13	7	12	9	1	1	3	1	1	0	2	1	5	1	4	1	2	2	4	1	2	3	3	rs142672693	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43164484C>A	ENST00000252050.4	+	11	2771	c.2687C>A	c.(2686-2688)aCg>aAg	p.T896K	CUL9_ENST00000372647.2_Missense_Mutation_p.T896K|CUL9_ENST00000354495.3_Missense_Mutation_p.T786K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	896					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2686-2688)aCg>aAg		Homo sapiens cullin 9 (CUL9), mRNA.							200	169	180					6																	43164484		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43164484C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2687C>A	6.37:g.43164484C>A	ENSP00000252050:p.Thr896Lys					CUL9_uc003oul.3_Missense_Mutation_p.T896K|CUL9_uc010jyk.3_Missense_Mutation_p.T48K	p.T896K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			10	2762	+			896					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2687C>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045250	0.75846	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72942	-0.7;-0.7;-0.59	5.61	4.69	0.59074	Armadillo-type fold (1);	0.319960	0.31834	N	0.006994	T	0.37433	0.1003	N	0.22421	0.69	0.34628	D	0.719268	P;P;P	0.43578	0.811;0.465;0.465	B;B;B	0.39299	0.296;0.069;0.069	T	0.27673	-1.0067	10	0.14656	T	0.56	-24.433	10.9826	0.47504	0.186:0.814:0.0:0.0	.	786;896;896	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	K	896;786;896	ENSP00000252050:T896K;ENSP00000346490:T786K;ENSP00000361730:T896K	ENSP00000252050:T896K	T	+	2	0	CUL9	43272462	0.996000	0.38824	1.000000	0.80357	0.929000	0.56500	2.175000	0.42491	2.656000	0.90262	0.655000	0.94253	ACG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43164484	C	A	43164484	3	1	190	1	0	0	0	0	1	0	0	0	4061	536	19	5	2725	5	CUL9	6	43164484	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	3881686	43164484	127950583	31	13382											
ABCC10	89845	broad.mit.edu	37	chr6	43413522	43413522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctgctcctgctgccGcctttgagcatcatgtacta	5	13	10	13	1	1	1	1	1	0	0	2	1	2	1	3	1	6	6	3	1	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43413522G>A	ENST00000372530.4	+	15	3431	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	ABCC10_ENST00000244533.3_Silent_p.P1044P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1072	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTGCTGCCGCCTTTGAGCA	0.662																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3214-3216)ccG>ccA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.							40	38	39					6																	43413522		2203	4299	6502	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43413522G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3216G>A	6.37:g.43413522G>A						ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	p.P1072P	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		14	3431	+	all_lung(25;0.00536)		1072			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3216G>A	CCDS56430.1																																																																																				0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43413522	G	A	43413522	2	1	190	1	0	0	0	0	0	0	0	1	50	1074	38	1		1	ABCC10	6	43413522	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	249038	43413522	127701545	32	13383											
GCM1	8521	broad.mit.edu	37	chr6	52993580	52993580	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcagatctgtgattccTcccagaccataactcttgga	10	12	7	12	0	4	3	2	1	2	2	6	4	6	4	3	1	1	0	3	1	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:52993580T>C	ENST00000259803.7	-	6	946	c.735A>G	c.(733-735)ggA>ggG	p.G245G	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	245					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGTGATTCCTCCCAGACCAT	0.453																																						uc003pbp.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(733-735)ggA>ggG		Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.							90	84	86					6																	52993580		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993580T>C	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.735A>G	6.37:g.52993580T>C							p.G245G	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			5	944	-	Lung NSC(77;0.0755)		245					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.735A>G	CCDS4950.1																																																																																				0.453	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			C	52993580	T	C	52993580	2	2	190	1	0	0	0	0	0	0	0	1	6297	1538	54	4		4	GCM1	6	52993580	Silent	SNP	T	TCGA-27-1838-01A-01D-1494-08	9580058	52993580	118121487	33	13384											
LGSN	51557	broad.mit.edu	37	chr6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggaataacgctttcGgcagctaacagaaggcgcca	11	8	11	11	3	0	1	0	0	0	1	2	2	1	2	2	3	3	3	2	3	4	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:63990360G>A	ENST00000370657.4	-	4	1129	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	366					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAACGCTTTCGGCAGCTAACA	0.478																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1096-1098)Cga>Tga		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						134	134	134					6																	63990360		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990360G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1096C>T	6.37:g.63990360G>A	ENSP00000359691:p.Arg366*					LGSN_uc003pei.3_3'UTR	p.R366*	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	1130	-			366					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.1096C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031718	0.35797	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.77	2.65	0.31530	.	0.103374	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.031	15.5526	0.76164	0.0:0.0:0.6316:0.3684	.	.	.	.	X	366	.	ENSP00000359691:R366X	R	-	1	2	LGSN	64048319	1.000000	0.71417	0.886000	0.34754	0.032000	0.12392	2.232000	0.43018	0.763000	0.33175	-0.181000	0.13052	CGA		0.478	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		A	63990360	G	A	63990360	4	1	190	1	0	0	0	0	0	1	0	0	8759	1124	39	2	437	2	LGSN	6	63990360	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	10996780	63990360	107124707	34	13385											
PHF3	23469	broad.mit.edu	37	chr6	64422167	64422167	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgagtcttagtctcagAggtaagccaccagatgtttc	10	12	10	9	1	2	3	1	1	2	2	4	4	2	3	2	1	1	2	2	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:64422167A>G	ENST00000262043.3	+	16	5023	c.4683A>G	c.(4681-4683)agA>agG	p.R1561R	PHF3_ENST00000393387.1_Silent_p.R1561R			Q92576	PHF3_HUMAN	PHD finger protein 3	1561					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAGTCTCAGAGGTAAGCCAC	0.353																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4681-4683)agA>agG		Homo sapiens PHD finger protein 3 (PHF3), mRNA.							66	64	65					6																	64422167		2202	4297	6499	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422167A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4683A>G	6.37:g.64422167A>G						PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	p.R1561R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		14	4708	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1561					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.4683A>G	CCDS4966.1																																																																																				0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			G	64422167	A	G	64422167	2	3	190	1	0	0	0	0	0	0	0	1	11836	301	11	4		4	PHF3	6	64422167	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	431807	64422167	106692900	35	13386											
SEC63	11231	broad.mit.edu	37	chr6	108250659	108250659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctggggttttaataaccGtaaacgataccacatacacc	13	10	8	10	2	0	0	0	0	0	0	0	1	0	0	3	3	4	3	3	3	6	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:108250659G>A	ENST00000369002.4	-	2	363	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	RNU6-437P_ENST00000459408.1_RNA	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	62					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R62W(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTAATAACCGTAAACGATAC	0.299																																						uc003psc.4																			1	Substitution - Missense(1)	p.R62W(2)	large_intestine(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(184-186)Cgg>Tgg		Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.							157	158	158					6																	108250659		2202	4297	6499	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108250659G>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.184C>T	6.37:g.108250659G>A	ENSP00000357998:p.Arg62Trp						p.R62W	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	1	453	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	62					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.184C>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394138	0.62066	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	T;T	0.76448	-1.02;-0.17	5.48	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.34521	1.04	0.53688	D	0.99997	D	0.69078	0.997	P	0.52554	0.702	T	0.71810	-0.4480	10	0.72032	D	0.01	-14.1314	13.3702	0.60709	0.0:0.0:0.5862:0.4138	.	62	Q9UGP8	SEC63_HUMAN	W	62;6	ENSP00000357998:R62W;ENSP00000403144:R6W	ENSP00000357998:R62W	R	-	1	2	SEC63	108357352	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	2.026000	0.41069	0.631000	0.30412	0.557000	0.71058	CGG		0.299	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		A	108250659	G	A	108250659	3	1	190	1	0	0	0	0	1	0	0	0	14005	1144	40	1	2178	1	SEC63	6	108250659	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	43828492	108250659	62864408	36	13387											
SLC22A2	6582	broad.mit.edu	37	chr6	160663362	160663362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcagcattgaccaggCagactatctcataggccatt	12	9	8	12	0	2	2	2	1	1	1	3	2	2	2	2	2	2	3	2	2	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:160663362C>A	ENST00000366953.3	-	8	1610	c.1352G>T	c.(1351-1353)tGc>tTc	p.C451F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	451		Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations. {ECO:0000250}.			body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ATTGACCAGGCAGACTATCTC	0.438																																						uc003qtf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1351-1353)tGc>tTc		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.							198	167	178					6																	160663362		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160663362C>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1352G>T	6.37:g.160663362C>A	ENSP00000355920:p.Cys451Phe						p.C451F	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	7	1526	-		Breast(66;0.000776)|Ovarian(120;0.0303)	451				Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity).	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1352G>T	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483316	0.44147	.	.	ENSG00000112499	ENST00000366953	T	0.73258	-0.73	5.23	5.23	0.72850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.113361	0.64402	D	0.000008	T	0.74160	0.3680	L	0.45352	1.415	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.67082	-0.5760	10	0.25106	T	0.35	.	19.363	0.94448	0.0:1.0:0.0:0.0	.	451	O15244	S22A2_HUMAN	F	451	ENSP00000355920:C451F	ENSP00000355920:C451F	C	-	2	0	SLC22A2	160583352	1.000000	0.71417	0.951000	0.38953	0.854000	0.48673	4.993000	0.63895	2.871000	0.98454	0.655000	0.94253	TGC		0.438	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		A	160663362	C	A	160663362	3	1	190	1	0	0	0	0	1	0	0	0	14450	710	25	5	331	5	SLC22A2	6	160663362	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	52412703	160663362	10451705	37	13388											
DGKB	1607	broad.mit.edu	37	chr7	14733777	14733777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccagagacacggttcCatcatgatcatagtcaattt	11	13	6	11	1	3	2	3	1	0	1	6	3	6	2	3	1	0	1	3	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:14733777C>T	ENST00000403951.2	-	9	1053	c.634G>A	c.(634-636)Gga>Aga	p.G212R	DGKB_ENST00000258767.5_Missense_Mutation_p.G212R|DGKB_ENST00000402815.1_Missense_Mutation_p.G212R|DGKB_ENST00000407950.1_Missense_Mutation_p.G205R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G212R|DGKB_ENST00000444700.2_Missense_Mutation_p.G205R|DGKB_ENST00000406247.3_Missense_Mutation_p.G212R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	212	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GACACGGTTCCATCATGATCA	0.418																																						uc003ssz.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(634-636)Gga>Aga		Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						75	71	73					7																	14733777		1927	4144	6071	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14733777C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.634G>A	7.37:g.14733777C>T	ENSP00000385780:p.Gly212Arg					DGKB_uc011jxt.2_Missense_Mutation_p.G205R|DGKB_uc003sta.3_Missense_Mutation_p.G212R|DGKB_uc011jxu.2_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	p.G212R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			7	821	-			212			EF-hand 2.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.634G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367077	0.95900	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.72	5.72	0.89469	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.998	D	0.96198	0.9143	10	0.87932	D	0	.	19.8709	0.96851	0.0:1.0:0.0:0.0	.	212;205;212;212	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	R	212;212;212;212;205;205;212	ENSP00000385780:G212R;ENSP00000382260:G212R;ENSP00000258767:G212R;ENSP00000384909:G212R;ENSP00000385031:G205R;ENSP00000388451:G205R;ENSP00000386066:G212R	ENSP00000258767:G212R	G	-	1	0	DGKB	14700302	1.000000	0.71417	0.910000	0.35882	0.889000	0.51656	7.818000	0.86416	2.698000	0.92095	0.591000	0.81541	GGA		0.418	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		T	14733777	C	T	14733777	3	4	190	1	0	0	0	0	1	0	0	0	4466	603	21	3	1867	3	DGKB	7	14733777	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		14733777	144404886	38	13389											
TRA2A	29896	broad.mit.edu	37	chr7	23552560	23552560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atacacaaaagcaaatcctcGagatcgcccagttcgctgat	14	8	7	12	3	0	2	0	1	0	1	4	3	1	2	2	0	2	3	2	0	4	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:23552560G>C	ENST00000297071.4	-	4	694	c.478C>G	c.(478-480)Cga>Gga	p.R160G	TRA2A_ENST00000538367.1_Missense_Mutation_p.R59G|TRA2A_ENST00000392502.4_Missense_Mutation_p.R59G|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	160	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCAAATCCTCGAGATCGCCCA	0.378																																					Pancreas(121;2137 2973 46590)	uc003swi.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(478-480)Cga>Gga		Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.							100	93	95					7																	23552560		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23552560G>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.478C>G	7.37:g.23552560G>C	ENSP00000297071:p.Arg160Gly					TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.R59G|TRA2A_uc011jzd.2_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_Non-coding_Transcript	p.R160G	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			3	691	-			160			RRM.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.478C>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159900	0.57368	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.77750	-1.12;-1.12;-1.12	5.27	2.28	0.28536	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.112351	0.64402	D	0.000018	D	0.90978	0.7163	H	0.98487	4.245	0.53688	D	0.999974	D	0.89917	1.0	D	0.87578	0.998	D	0.89465	0.3739	10	0.87932	D	0	-3.8414	7.4222	0.27077	0.0836:0.0:0.4038:0.5126	.	160	Q13595	TRA2A_HUMAN	G	160;59;59	ENSP00000297071:R160G;ENSP00000376290:R59G;ENSP00000441116:R59G	ENSP00000297071:R160G	R	-	1	2	TRA2A	23519085	0.952000	0.32445	0.631000	0.29282	0.732000	0.41865	1.297000	0.33400	0.602000	0.29896	0.306000	0.20318	CGA		0.378	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		C	23552560	G	C	23552560	3	2	190	1	0	0	0	0	1	0	0	0	16430	1066	37	5	390	5	TRA2A	7	23552560	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	8818783	23552560	135586103	39	13390											
GHRHR	2692	broad.mit.edu	37	chr7	31009513	31009513	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggattgtactatcactggCtggtctgagccctttccacc	6	12	10	13	1	2	1	1	1	1	0	3	2	3	2	3	3	2	2	3	3	2	4	rs549665869		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:31009513C>A	ENST00000326139.2	+	4	346	c.300C>A	c.(298-300)ggC>ggA	p.G100G	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000409904.3_Silent_p.G36G	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	100					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTATCACTGGCTGGTCTGAGC	0.602																																						uc003tbx.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(298-300)ggC>ggA		Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	Sermorelin(DB00010)						174	140	151					7																	31009513		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31009513C>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.300C>A	7.37:g.31009513C>A						GHRHR_uc003tby.3_Silent_p.G36G|GHRHR_uc003tbz.3_5'UTR	p.G100G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			3	348	+			100					Q99863	Silent	SNP	ENST00000326139.2	37	c.300C>A	CCDS5432.1																																																																																				0.602	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			A	31009513	C	A	31009513	2	1	190	1	0	0	0	0	0	0	0	1	6373	784	28	5		5	GHRHR	7	31009513	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	7456953	31009513	128129150	40	13391											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:55221822C>A	ENST00000275493.2	+	7	1043	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_ENST00000342916.3_Missense_Mutation_p.A289D|EGFR_ENST00000420316.2_Missense_Mutation_p.A289D|EGFR_ENST00000455089.1_Missense_Mutation_p.A244D|EGFR_ENST00000454757.2_Missense_Mutation_p.A236D|EGFR_ENST00000442591.1_Missense_Mutation_p.A289D|EGFR_ENST00000344576.2_Missense_Mutation_p.A289D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>A	7.37:g.55221822C>A	ENSP00000275493:p.Ala289Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459485	0.96240	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.41710	1.295	0.80722	D	1	P;D;P;D;P	0.69078	0.933;0.997;0.954;0.991;0.685	B;D;P;P;B	0.79784	0.424;0.993;0.652;0.649;0.241	T	0.74890	-0.3510	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	D	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244D;ENSP00000342376:A289D;ENSP00000345973:A289D;ENSP00000413843:A289D;ENSP00000275493:A289D;ENSP00000410031:A289D;ENSP00000395243:A236D	ENSP00000275493:A289D	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221822	C	A	55221822	3	1	190	1	0	0	0	0	1	0	0	0	4967	739	26	5	892	5	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	24212309	55221822	103916841	41	13392											
PCLO	27445	broad.mit.edu	37	chr7	82474620	82474620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctttttgctcactgaGggggaccctggttgcccagg	4	13	13	11	0	2	1	1	1	1	0	2	2	2	2	2	4	3	3	2	4	0	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:82474620G>A	ENST00000333891.9	-	13	14350	c.14013C>T	c.(14011-14013)ccC>ccT	p.P4671P	PCLO_ENST00000423517.2_Silent_p.P4671P|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTCACTGAGGGGGACCCTG	0.488																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14011-14013)ccC>ccT		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							52	54	53					7																	82474620		2015	4174	6189	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474620G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14013C>T	7.37:g.82474620G>A						PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	p.P4671P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			12	14302	-			4559						Silent	SNP	ENST00000333891.9	37	c.14013C>T	CCDS47630.1																																																																																				0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82474620	G	A	82474620	2	1	190	1	0	0	0	0	0	0	0	1	11583	987	35	3		3	PCLO	7	82474620	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	27252798	82474620	76664043	42	13393											
STEAP4	79689	broad.mit.edu	37	chr7	87913202	87913202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatgcttttaccacgtggGctcctggcaccaaatgagca	11	10	9	11	1	0	1	0	1	0	0	1	1	1	1	3	2	3	4	3	2	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:87913202G>A	ENST00000380079.4	-	2	484	c.383C>T	c.(382-384)gCc>gTc	p.A128V	STEAP4_ENST00000414498.1_Missense_Mutation_p.A128V|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.A128V|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	128					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACCACGTGGGCTCCTGGCAC	0.428																																						uc022agz.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(382-384)gCc>gTc		Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.							135	122	126					7																	87913202		1890	4124	6014	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913202G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.383C>T	7.37:g.87913202G>A	ENSP00000369419:p.Ala128Val					STEAP4_uc003ujs.3_Missense_Mutation_p.A128V|STEAP4_uc010lek.3_Missense_Mutation_p.A128V	p.A128V	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN			2	606	-	Esophageal squamous(14;0.00802)		128					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.383C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591593	0.46214	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.18810	2.19;2.19;2.19	5.91	5.03	0.67393	NAD(P)-binding domain (1);	0.303789	0.39985	N	0.001209	T	0.31167	0.0788	M	0.75085	2.285	0.19775	N	0.999954	B;D;P	0.54601	0.024;0.967;0.54	B;P;B	0.47299	0.04;0.543;0.309	T	0.31916	-0.9926	10	0.72032	D	0.01	-2.959	11.0572	0.47925	0.0714:0.2541:0.6745:0.0	.	128;128;128	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	V	128	ENSP00000369419:A128V;ENSP00000305545:A128V;ENSP00000394399:A128V	ENSP00000305545:A128V	A	-	2	0	STEAP4	87751138	0.735000	0.28153	0.995000	0.50966	0.973000	0.67179	3.981000	0.56902	1.502000	0.48669	0.650000	0.86243	GCC		0.428	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		A	87913202	G	A	87913202	3	1	190	1	0	0	0	0	1	0	0	0	15279	1203	42	3	1012	3	STEAP4	7	87913202	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	5438582	87913202	71225461	43	13394											
ZNF655	79027	broad.mit.edu	37	chr7	99170930	99170930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttattcagcatcaaaGaattcacacaggagagaaag	18	8	7	8	0	4	2	3	0	1	2	4	4	4	3	0	1	1	1	0	1	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:99170930G>T	ENST00000394163.2	+	3	1382	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.R435I|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.R435I|ZNF655_ENST00000252713.4_Missense_Mutation_p.R400I	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	400					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353																																						uc010lga.3																			2	Substitution - Missense(2)	p.R435T(1)|p.R400T(1)	urinary_tract(2)	NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1303-1305)aGa>aTa		Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.							75	76	75					7																	99170930		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170930G>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1199G>T	7.37:g.99170930G>T	ENSP00000377718:p.Arg400Ile					ZNF655_uc003urh.3_Missense_Mutation_p.R400I|ZNF655_uc010lgc.3_Missense_Mutation_p.R435I|ZNF655_uc003urj.3_Missense_Mutation_p.R400I|ZNF655_uc003urk.3_Missense_Mutation_p.R237I|ZNF655_uc010lgd.3_Missense_Mutation_p.R237I	p.R435I	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN			3	1697	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		400					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1304G>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098186	0.56183	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.07	0.854	0.19007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000404	T	0.16981	0.0408	L	0.47078	1.49	0.80722	D	1	B;B	0.28419	0.176;0.211	B;B	0.28465	0.054;0.09	T	0.10109	-1.0644	10	0.52906	T	0.07	-9.315	1.2465	0.01973	0.1695:0.1485:0.3775:0.3044	.	435;400	Q8N720-3;Q8N720	.;ZN655_HUMAN	I	400;435;435;400	ENSP00000252713:R400I;ENSP00000419135:R435I;ENSP00000393876:R435I;ENSP00000377718:R400I	ENSP00000252713:R400I	R	+	2	0	ZNF655	99008866	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	0.311000	0.19380	0.354000	0.24105	0.650000	0.86243	AGA		0.353	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		T	99170930	G	T	99170930	3	4	190	1	0	0	0	0	1	0	0	0	18065	942	33	5	1736	5	ZNF655	7	99170930	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11257728	99170930	59967733	44	13395											
RELN	5649	broad.mit.edu	37	chr7	103368622	103368622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcataatcgcgccacacTgttctccagtctcacagttg	9	11	7	14	2	2	0	1	0	2	0	5	0	2	0	2	0	1	3	2	0	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:103368622T>C	ENST00000428762.1	-	7	848	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RELN_ENST00000424685.2_Missense_Mutation_p.Q230R|RELN_ENST00000343529.5_Missense_Mutation_p.Q230R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	230					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCGCCACACTGTTCTCCAGT	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(688-690)cAg>cGg		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							140	113	122					7																	103368622		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103368622T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.689A>G	7.37:g.103368622T>C	ENSP00000392423:p.Gln230Arg					RELN_uc022ajq.1_Missense_Mutation_p.Q230R|RELN_uc010liz.3_Missense_Mutation_p.Q230R	p.Q230R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	6	849	-			230					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.689A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171440	0.78452	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.64997	1.995	0.52501	D	0.999957	D;D	0.57899	0.981;0.967	D;D	0.70487	0.969;0.932	T	0.36040	-0.9764	10	0.41790	T	0.15	.	16.0892	0.81080	0.0:0.0:0.0:1.0	.	230;230	P78509-2;P78509	.;RELN_HUMAN	R	230	ENSP00000392423:Q230R;ENSP00000345694:Q230R;ENSP00000388446:Q230R	ENSP00000345694:Q230R	Q	-	2	0	RELN	103155858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.142000	0.71750	2.279000	0.76181	0.533000	0.62120	CAG		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103368622	T	C	103368622	3	2	190	1	0	0	0	0	1	0	0	0	13220	1580	55	4	9929	4	RELN	7	103368622	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	4197692	103368622	55770041	45	13396											
TAS2R16	50833	broad.mit.edu	37	chr7	122635067	122635067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccagtgctatgatgttGtatctgcttggtcagtgatg	7	15	13	6	0	2	3	1	3	1	0	2	3	2	3	1	1	2	4	1	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:122635067G>T	ENST00000249284.2	-	1	687	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	208					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATGATGTTGTATCTGCTTG	0.463																																						uc003vkl.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-624)Caa>Aaa		Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.							153	128	137					7																	122635067		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635067G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.622C>A	7.37:g.122635067G>T	ENSP00000249284:p.Gln208Lys						p.Q208K	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			0	688	-			208					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.622C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332237	0.10956	.	.	ENSG00000128519	ENST00000249284	T	0.00801	5.68	4.59	1.5	0.22942	.	0.614196	0.15033	N	0.284341	T	0.00967	0.0032	L	0.31294	0.92	0.09310	N	1	B	0.26577	0.153	B	0.25987	0.065	T	0.47649	-0.9101	10	0.35671	T	0.21	.	10.2941	0.43613	0.0:0.0:0.4303:0.5697	.	208	Q9NYV7	T2R16_HUMAN	K	208	ENSP00000249284:Q208K	ENSP00000249284:Q208K	Q	-	1	0	TAS2R16	122422303	0.164000	0.22935	0.002000	0.10522	0.030000	0.12068	0.119000	0.15626	0.187000	0.20147	0.655000	0.94253	CAA		0.463	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		T	122635067	G	T	122635067	3	4	190	1	0	0	0	0	1	0	0	0	15566	1386	48	5	257	5	TAS2R16	7	122635067	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	19266445	122635067	36503596	46	13397											
TRPV6	55503	broad.mit.edu	37	chr7	142575732	142575732	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaacttgttcagggccTggacatcattatctttggca	9	13	10	9	0	3	1	2	1	1	0	3	2	3	2	1	3	2	3	1	3	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:142575732T>C	ENST00000359396.3	-	2	421	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	59					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTTCAGGGCCTGGACATCATT	0.493																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(175-177)cAg>cGg		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							196	153	167					7																	142575732		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575732T>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.176A>G	7.37:g.142575732T>C	ENSP00000352358:p.Gln59Arg					TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	p.Q59R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			1	405	-	Melanoma(164;0.059)		59					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.176A>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	6.745	0.506301	0.12883	.	.	ENSG00000165125	ENST00000359396	T	0.64991	-0.13	4.33	-1.03	0.10102	Ankyrin repeat-containing domain (4);	0.441560	0.24048	N	0.042033	T	0.38134	0.1029	L	0.27975	0.815	0.22253	N	0.999252	B	0.02656	0.0	B	0.08055	0.003	T	0.14144	-1.0483	10	0.15066	T	0.55	-10.5856	5.6084	0.17392	0.0:0.2602:0.4888:0.251	.	59	Q9H1D0	TRPV6_HUMAN	R	59	ENSP00000352358:Q59R	ENSP00000352358:Q59R	Q	-	2	0	TRPV6	142285854	0.000000	0.05858	0.913000	0.36048	0.754000	0.42855	-0.199000	0.09491	-0.075000	0.12798	-0.274000	0.10170	CAG		0.493	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		C	142575732	T	C	142575732	3	2	190	1	0	0	0	0	1	0	0	0	16597	1580	55	4	2057	4	TRPV6	7	142575732	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	19940665	142575732	16562931	47	13398											
DCTN6	10671	broad.mit.edu	37	chr8	30040689	30040689	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaactccagtaaagaactaAgaacagtgtataacatgaag	19	8	7	7	0	1	3	1	1	0	2	2	3	2	3	1	0	4	2	1	0	9	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:30040689A>C	ENST00000221114.3	+	7	660	c.573A>C	c.(571-573)taA>taC	p.*191Y	RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TAAAGAACTAAGAACAGTGTA	0.378																																						uc003xhy.3																			0				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4						c.(571-573)taA>taC		Homo sapiens dynactin 6 (DCTN6), mRNA.							89	80	83					8																	30040689		2203	4300	6503	SO:0001578	stop_lost	10671					centrosome	transferase activity	g.chr8:30040689A>C	D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.573A>C	8.37:g.30040689A>C	ENSP00000221114:p.*191Tyrext*6					MIR548O2_uc022atm.1_Intron	p.*191Y	NM_006571	NP_006562	O00399	DCTN6_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	6	660	+			0					B2RAC1	Nonstop_Mutation	SNP	ENST00000221114.3	37	c.573A>C	CCDS6076.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548363	0.45383	.	.	ENSG00000104671	ENST00000221114	.	.	.	5.72	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7581	0.40515	0.919:0.0:0.081:0.0	.	.	.	.	Y	191	.	.	X	+	3	2	DCTN6	30160231	0.997000	0.39634	0.758000	0.31321	0.726000	0.41606	5.396000	0.66297	0.999000	0.39023	0.533000	0.62120	TAA		0.378	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375815.2	NM_006571		C	30040689	A	C	30040689	4	2	190	1	0	0	0	0	0	0	0	0	4311	79	3	5	599	5	DCTN6	8	30040689	Nonstop_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08		30040689	116323333	48	13399											
PLEKHA2	59339	broad.mit.edu	37	chr8	38826181	38826181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaggccctcaagtgccaCcccagagtaagtcacttcct	9	8	8	16	0	2	1	2	0	0	1	4	1	4	1	6	1	1	1	6	1	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:38826181C>T	ENST00000420274.1	+	11	1143	c.909C>T	c.(907-909)caC>caT	p.H303H	PLEKHA2_ENST00000521746.1_Intron|CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	303					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAAGTGCCACCCCAGAGTAA	0.498																																						uc003xmi.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(907-909)caC>caT		Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.							95	102	100					8																	38826181		2031	4192	6223	SO:0001819	synonymous_variant	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38826181C>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.909C>T	8.37:g.38826181C>T						PLEKHA2_uc011lce.2_Silent_p.H253H	p.H303H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		10	1143	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	303						Silent	SNP	ENST00000420274.1	37	c.909C>T																																																																																					0.498	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623		T	38826181	C	T	38826181	2	4	190	1	0	0	0	0	0	0	0	1	12056	506	18	3		3	PLEKHA2	8	38826181	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	8785492	38826181	107537841	49	13400											
ANK1	286	broad.mit.edu	37	chr8	41543721	41543721	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttcagcaaggccacacTctgctccaacagggagttgg	10	7	13	11	0	2	0	1	0	1	0	3	2	3	1	2	4	3	4	2	4	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:41543721T>A	ENST00000347528.4	-	36	4422	c.4339A>T	c.(4339-4341)Agt>Tgt	p.S1447C	ANK1_ENST00000289734.7_Missense_Mutation_p.S1447C|ANK1_ENST00000352337.4_Missense_Mutation_p.S1447C|ANK1_ENST00000396942.1_Missense_Mutation_p.S1447C|ANK1_ENST00000379758.2_Missense_Mutation_p.S1447C|ANK1_ENST00000396945.1_Missense_Mutation_p.S1447C|ANK1_ENST00000265709.8_Missense_Mutation_p.S1488C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1447	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAGGCCACACTCTGCTCCAAC	0.557																																						uc003xok.3																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4339-4341)Agt>Tgt		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							144	108	120					8																	41543721		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41543721T>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4339A>T	8.37:g.41543721T>A	ENSP00000339620:p.Ser1447Cys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S763C|ANK1_uc003xoi.3_Missense_Mutation_p.S1447C|ANK1_uc003xoj.3_Missense_Mutation_p.S1447C|ANK1_uc003xol.3_Missense_Mutation_p.S1447C|ANK1_uc003xom.3_Missense_Mutation_p.S1488C	p.S1447C	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		35	4423	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1447			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4339A>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.686664|4.686664	0.88639|0.88639	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|D;D;D;D;D;D;D	.|0.85955	.|-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Death (3);DEATH-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89556|0.89556	0.6749|0.6749	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D;B	.|0.69078	.|0.986;0.997;0.968;0.046;0.964;0.311	.|D;D;D;B;D;P	.|0.68192	.|0.91;0.926;0.956;0.112;0.91;0.527	D|D	0.90088|0.90088	0.4175|0.4175	5|10	.|0.56958	.|D	.|0.05	.|.	14.7489|14.7489	0.69511|0.69511	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1488;1447;1447;1447;1447;763	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	V|C	768|1447;1447;1447;1447;1447;1447;1488;1447	.|ENSP00000339620:S1447C;ENSP00000289734:S1447C;ENSP00000369082:S1447C;ENSP00000380149:S1447C;ENSP00000380147:S1447C;ENSP00000309131:S1447C;ENSP00000265709:S1488C	.|ENSP00000265709:S1488C	E|S	-|-	2|1	0|0	ANK1|ANK1	41662878|41662878	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.917000|0.917000	0.54804|0.54804	7.430000|7.430000	0.80321|0.80321	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41543721	T	A	41543721	3	1	190	1	0	0	0	0	1	0	0	0	620	1551	54	5	1660	5	ANK1	8	41543721	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	2717540	41543721	104820301	50	13401											
IL7	3574	broad.mit.edu	37	chr8	79645969	79645969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgttctttagtgcccatCaaaattttattccaacaagt	12	15	5	9	0	2	0	1	0	1	0	3	0	3	0	2	0	2	1	2	0	6	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:79645969C>T	ENST00000263851.4	-	6	1113	c.513G>A	c.(511-513)ttG>ttA	p.L171L	IL7_ENST00000520269.1_Silent_p.L127L|IL7_ENST00000541183.1_Silent_p.L58L|IL7_ENST00000519833.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323																																						uc003ybg.3																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(511-513)ttG>ttA		Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.							124	126	126					8																	79645969		2203	4299	6502	SO:0001819	synonymous_variant	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79645969C>T	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.513G>A	8.37:g.79645969C>T						IL7_uc022awh.1_Silent_p.L153L|IL7_uc022awi.1_Silent_p.L127L|IL7_uc022awj.1_Silent_p.L109L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	p.L171L	NM_000880	NP_000871	P13232	IL7_HUMAN			5	1114	-			171					A0N0L3|Q5FBY5|Q5FBY9	Silent	SNP	ENST00000263851.4	37	c.513G>A	CCDS6224.1																																																																																				0.323	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			T	79645969	C	T	79645969	2	4	190	1	0	0	0	0	0	0	0	1	7704	825	29	3		3	IL7	8	79645969	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	38102248	79645969	66718053	51	13402											
RGS22	26166	broad.mit.edu	37	chr8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattatcccaatattctgttCgtttagagacgttagagagt	11	15	8	7	2	1	2	0	0	1	2	3	4	2	2	1	0	0	3	1	0	5	7	rs545074494		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:101016271C>T	ENST00000360863.6	-	17	2704	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523287.1_Missense_Mutation_p.R656Q|RGS22_ENST00000523437.1_Missense_Mutation_p.R825Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	837					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R837Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353													C|||	1	0.000199681	0	0	5008	,	,		18959	0.001		0	False		,,,				2504	0					uc003yjb.1																		RGS22/SYCP1(2)	2	Substitution - Missense(2)	p.R837Q(3)	large_intestine(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2509-2511)cGa>cAa		Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.							130	119	123					8																	101016271		1851	4091	5942	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101016271C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2510G>A	8.37:g.101016271C>T	ENSP00000354109:p.Arg837Gln					RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank	p.R837Q	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		16	2705	-			837					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2510G>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	1.388	-0.581481	0.03854	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.41400	1.61;1.61;1.61;1.0	5.49	1.78	0.24846	.	1.201650	0.05911	N	0.631661	T	0.14485	0.0350	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.22765	-1.0207	10	0.16896	T	0.51	.	8.891	0.35434	0.0:0.0744:0.1283:0.7973	.	825;837;656	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Q	837;825;656;825;152	ENSP00000354109:R837Q;ENSP00000429382:R656Q;ENSP00000428212:R825Q;ENSP00000427754:R152Q	ENSP00000354109:R837Q	R	-	2	0	RGS22	101085447	0.210000	0.23517	0.047000	0.18901	0.118000	0.20060	0.532000	0.23067	0.057000	0.16193	-1.074000	0.02243	CGA		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		T	101016271	C	T	101016271	3	4	190	1	0	0	0	0	1	0	0	0	13305	884	31	2	1328	2	RGS22	8	101016271	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	21370302	101016271	45347751	52	13403											
SMARCA2	6595	broad.mit.edu	37	chr9	2029232	2029232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttcccacaggaaggcatGcatcaaatgcataaggtaag	15	7	10	9	0	1	0	1	0	0	0	2	2	2	1	1	3	2	4	1	3	4	3	rs529054959	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:2029232G>C	ENST00000382203.1	+	2	419	c.210G>C	c.(208-210)atG>atC	p.M70I	SMARCA2_ENST00000349721.2_Missense_Mutation_p.M70I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M70I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M70I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	70					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGGAAGGCATGCATCAAATGC	0.493																																						uc003zhc.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(208-210)atG>atC		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.							39	32	35					9																	2029232		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2029232G>C	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.210G>C	9.37:g.2029232G>C	ENSP00000371638:p.Met70Ile					SMARCA2_uc003zhd.3_Missense_Mutation_p.M70I|SMARCA2_uc010mha.3_Missense_Mutation_p.M61I	p.M70I	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	1	309	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	70					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.210G>C	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190604	0.38707	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87650	-2.28;-2.26;0.7;-2.28;-2.26	5.61	2.72	0.32119	.	0.151372	0.56097	N	0.000024	T	0.73567	0.3603	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.0	T	0.63747	-0.6567	10	0.37606	T	0.19	-10.7341	6.1408	0.20259	0.2043:0.0:0.665:0.1306	.	70;70	P51531-2;P51531	.;SMCA2_HUMAN	I	70	ENSP00000265773:M70I;ENSP00000349788:M70I;ENSP00000392081:M70I;ENSP00000371638:M70I;ENSP00000371629:M70I	ENSP00000265773:M70I	M	+	3	0	SMARCA2	2019232	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.591000	0.53986	0.708000	0.31955	-0.321000	0.08615	ATG		0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		C	2029232	G	C	2029232	3	2	190	1	0	0	0	0	1	0	0	0	14769	1319	46	5	212	5	SMARCA2	9	2029232	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		2029232	139184199	53	13404											
IL33	90865	broad.mit.edu	37	chr9	6251142	6251142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcccatccggtctgcaggtAgaaagcacaaaagacatctg	14	7	9	11	1	2	2	0	0	2	2	4	2	4	2	2	2	2	3	2	2	4	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:6251142A>G	ENST00000381434.3	+	3	233	c.220A>G	c.(220-222)Aga>Gga	p.R74G	IL33_ENST00000456383.2_Missense_Mutation_p.R74G|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	74	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTGCAGGTAGAAAGCACAA	0.493																																						uc003zjt.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(220-222)Aga>Gga		Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.							160	122	135					9																	6251142		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6251142A>G	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.220A>G	9.37:g.6251142A>G	ENSP00000370842:p.Arg74Gly					IL33_uc011lmg.2_Missense_Mutation_p.R74G|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	p.R74G	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	3	298	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	74					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.220A>G	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	4.741	0.137850	0.09032	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.43294	0.95;0.95	4.28	-3.69	0.04450	.	3.289210	0.00659	N	0.000595	T	0.24509	0.0594	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17899	-1.0354	10	0.19590	T	0.45	6.3018	10.9262	0.47191	0.7377:0.0:0.2623:0.0	.	74;74	B4E1Q9;O95760	.;IL33_HUMAN	G	74	ENSP00000414238:R74G;ENSP00000370842:R74G	ENSP00000370842:R74G	R	+	1	2	IL33	6241142	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.937000	0.01547	-0.784000	0.04528	-1.052000	0.02337	AGA		0.493	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		G	6251142	A	G	6251142	3	3	190	1	0	0	0	0	1	0	0	0	7693	412	15	4	230	4	IL33	9	6251142	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	4221910	6251142	134962289	54	13405											
ZNF484	83744	broad.mit.edu	37	chr9	95610513	95610513	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atataaggttatgataggctCcaaattctttccacacgagt	13	13	7	8	1	1	1	0	1	1	0	3	2	3	1	2	2	0	2	2	2	5	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:95610513C>A	ENST00000375495.3	-	5	704	c.556G>T	c.(556-558)Gag>Tag	p.E186*	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.E150*|ZNF484_ENST00000395505.2_Nonsense_Mutation_p.E150*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.E188*	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATGATAGGCTCCAAATTCTTT	0.343																																						uc004asu.1																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(556-558)Gag>Tag		Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.							122	125	124					9																	95610513		2203	4300	6503	SO:0001587	stop_gained	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610513C>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.556G>T	9.37:g.95610513C>A	ENSP00000364645:p.Glu186*					ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*	p.E186*	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN			4	705	-			186					B1AL89|B4DRI2	Nonsense_Mutation	SNP	ENST00000375495.3	37	c.556G>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	9.111	1.006460	0.19199	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	.	.	.	2.94	-0.935	0.10423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	2.8108	0.05441	0.195:0.291:0.0:0.5139	.	.	.	.	X	150;188;186;150	.	ENSP00000364646:E150X	E	-	1	0	ZNF484	94650334	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.151000	0.16283	-0.193000	0.10415	-0.183000	0.12914	GAG		0.343	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		A	95610513	C	A	95610513	4	1	190	1	0	0	0	0	0	1	0	0	17934	864	30	5	2006	5	ZNF484	9	95610513	Nonsense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	89359371	95610513	45602918	55	13406											
ZNF462	58499	broad.mit.edu	37	chr9	109687562	109687562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgacgtagcatctctcgtCacatagaaaacatccactta	14	10	5	12	3	2	1	1	0	1	1	6	2	3	1	1	0	2	2	1	0	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:109687562C>G	ENST00000277225.5	+	3	1658	c.1369C>G	c.(1369-1371)Cac>Gac	p.H457D	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.H457D			Q96JM2	ZN462_HUMAN	zinc finger protein 462	457					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATCTCTCGTCACATAGAAAA	0.438																																						uc004bcz.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1369-1371)Cac>Gac		Homo sapiens zinc finger protein 462 (ZNF462), mRNA.							127	121	123					9																	109687562		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687562C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1369C>G	9.37:g.109687562C>G	ENSP00000277225:p.His457Asp					MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H305D|ZNF462_uc004bda.3_Missense_Mutation_p.H305D	p.H457D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			2	1658	+			457					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1369C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500680	0.44455	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.21191	2.02;2.73	5.93	5.03	0.67393	Zinc finger, C2H2-like (1);	0.044090	0.85682	D	0.000000	T	0.17789	0.0427	N	0.19112	0.55	0.80722	D	1	P;P	0.38827	0.649;0.565	B;B	0.42625	0.273;0.393	T	0.05733	-1.0867	9	.	.	.	.	14.8471	0.70267	0.1439:0.8561:0.0:0.0	.	457;457	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	D	457	ENSP00000277225:H457D;ENSP00000414570:H457D	.	H	+	1	0	ZNF462	108727383	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.411000	0.80078	1.487000	0.48415	0.561000	0.74099	CAC		0.438	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		G	109687562	C	G	109687562	3	3	190	1	0	0	0	0	1	0	0	0	17923	826	29	5	1375	5	ZNF462	9	109687562	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	14077049	109687562	31525869	56	13407											
FAM129B	64855	broad.mit.edu	37	chr9	130289580	130289580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggttccccgagaagaCgatgcgctcgtccagtggca	10	6	14	11	4	0	3	0	0	0	3	3	6	2	3	3	2	1	3	3	2	2	1	rs541599134		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:130289580C>T	ENST00000373312.3	-	3	421	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	FAM129B_ENST00000373314.3_Missense_Mutation_p.V57I|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	70	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCGAGAAGACGATGCGCTCG	0.637																																						uc004brh.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(208-210)Gtc>Atc		Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.							69	62	65					9																	130289580		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130289580C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.208G>A	9.37:g.130289580C>T	ENSP00000362409:p.Val70Ile					FAM129B_uc004bri.3_Missense_Mutation_p.V57I|FAM129B_uc004brj.4_Missense_Mutation_p.V70I	p.V70I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			2	410	-			70			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.208G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	c	1.666	-0.510235	0.04231	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.16073	2.37;2.37	5.43	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.051364	0.85682	N	0.000000	T	0.04724	0.0128	N	0.01352	-0.895	0.21325	N	0.999727	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.40664	-0.9551	10	0.02654	T	1	-24.9417	9.7575	0.40513	0.0:0.083:0.0:0.9169	.	57;70	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	I	57;70	ENSP00000362411:V57I;ENSP00000362409:V70I	ENSP00000362409:V70I	V	-	1	0	FAM129B	129329401	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	5.627000	0.67784	0.886000	0.36113	-0.430000	0.05897	GTC		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		T	130289580	C	T	130289580	3	4	190	1	0	0	0	0	1	0	0	0	5437	536	19	1	2080	1	FAM129B	9	130289580	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	20602018	130289580	10923851	57	13408											
PAEP	5047	broad.mit.edu	37	chr9	138453719	138453719	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggacatcccccagacCaagcaggacctggagctccc	10	4	10	17	0	0	1	0	0	0	1	2	4	2	4	6	3	2	2	6	3	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:138453719C>A	ENST00000479141.1	+	1	116	c.72C>A	c.(70-72)acC>acA	p.T24T	PAEP_ENST00000371766.2_Silent_p.T24T|PAEP_ENST00000277508.5_Silent_p.T24T	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	24					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCCAGACCAAGCAGGACC	0.682																																						uc004cge.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(70-72)acC>acA		Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.							17	17	17					9																	138453719		2189	4286	6475	SO:0001819	synonymous_variant	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138453719C>A		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.72C>A	9.37:g.138453719C>A						PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010nay.3_Silent_p.T24T|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	p.T24T	NM_001018049	NP_002562	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	0	116	+			24					Q5T6T1|Q9UG92	Silent	SNP	ENST00000479141.1	37	c.72C>A	CCDS35173.1	.	.	.	.	.	.	.	.	.	.	C	1.766	-0.485694	0.04352	.	.	ENSG00000122133	ENST00000433563	.	.	.	1.38	-0.765	0.11023	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	.	2.6884	0.05114	0.0:0.4723:0.3092:0.2185	.	.	.	.	K	10	.	.	Q	+	1	0	PAEP	137593540	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.291000	0.18994	-0.257000	0.09459	-0.339000	0.08088	CAA		0.682	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		A	138453719	C	A	138453719	2	1	190	1	0	0	0	0	0	0	0	1	11382	581	21	5		5	PAEP	9	138453719	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	8164139	138453719	2759712	58	13409											
ADARB2	105	broad.mit.edu	37	chr10	1262895	1262895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgtgggcctcacctggCgatcttgtccgtgcaggaca	7	8	13	13	3	2	0	1	0	1	0	3	2	3	1	4	3	2	1	4	3	1	1	rs142663256	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:1262895C>T	ENST00000381312.1	-	7	2003	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	560	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A560T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTCACCTGGCGATCTTGTCC	0.677													C|||	18	0.00359425	0.0136	0	5008	,	,		17249	0		0	False		,,,				2504	0					uc009xhq.3																			1	Substitution - Missense(1)	p.A560T(2)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1678-1680)Gcc>Acc		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.		C	THR/ALA	33,4371	38.4+/-70.7	0,33,2169	47	41	43		1678	5.3	1	10	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADARB2	NM_018702.3	58	0,34,6468	TT,TC,CC		0.0116,0.7493,0.2615	possibly-damaging	560/740	1262895	34,12970	2202	4300	6502	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1262895C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1678G>A	10.37:g.1262895C>T	ENSP00000370713:p.Ala560Thr						p.A560T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	6	2004	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	560			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1678G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332900	0.41297	0.007493	1.16E-4	ENSG00000185736	ENST00000381312	D	0.94650	-3.48	5.3	5.3	0.74995	Adenosine deaminase/editase (3);	0.124866	0.64402	D	0.000015	D	0.86916	0.6048	L	0.38953	1.18	0.80722	D	1	P	0.43477	0.808	B	0.36567	0.228	D	0.88507	0.3086	10	0.52906	T	0.07	.	12.3329	0.55049	0.0:0.9224:0.0:0.0776	.	560	Q9NS39	RED2_HUMAN	T	560	ENSP00000370713:A560T	ENSP00000370713:A560T	A	-	1	0	ADARB2	1252895	0.985000	0.35326	0.961000	0.40146	0.301000	0.27625	2.456000	0.44997	2.482000	0.83794	0.305000	0.20034	GCC		0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		T	1262895	C	T	1262895	3	4	190	1	0	0	0	0	1	0	0	0	283	768	27	1	557	1	ADARB2	10	1262895	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		1262895	134271852	59	13410											
GDF10	2662	broad.mit.edu	37	chr10	48429388	48429388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgctggcgtgtgggCgggcccaggggcagcgggcg	4	4	23	10	4	0	0	0	0	0	0	0	0	0	0	1	7	3	3	1	7	0	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:48429388C>T	ENST00000224605.2	-	2	763	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	166					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCGTGTGGGCGGGCCCAGGG	0.726																																						uc001jfb.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(496-498)ccG>ccA		Homo sapiens growth differentiation factor 10 (GDF10), mRNA.							16	23	20					10																	48429388		2192	4289	6481	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429388C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.498G>A	10.37:g.48429388C>T						GDF10_uc009xnp.3_Silent_p.P165P|GDF10_uc009xnq.2_Silent_p.P166P	p.P166P	NM_004962	NP_004953	P55107	BMP3B_HUMAN			1	926	-			166					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.498G>A	CCDS7220.1																																																																																				0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		T	48429388	C	T	48429388	2	4	190	1	0	0	0	0	0	0	0	1	6311	755	27	1		1	GDF10	10	48429388	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	47166493	48429388	87105359	60	13411											
MAT1A	4143	broad.mit.edu	37	chr10	82034333	82034333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccacatccagcagctctCgctctgtcttctgagaggtt	7	11	9	14	1	4	1	0	1	4	1	6	2	5	1	2	1	2	5	2	1	0	2	rs370173781		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:82034333C>T	ENST00000372213.3	-	8	1288	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R343Q(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCAGCTCTCGCTCTGTCTT	0.557																																						uc001kbw.3																			1	Substitution - Missense(1)	p.R343Q(2)	large_intestine(1)	endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1027-1029)cGa>cAa		Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	173	156	162		1028	-0.8	0	10		162	0,8600		0,0,4300	no	missense	MAT1A	NM_000429.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	343/396	82034333	1,13005	2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034333C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.1028G>A	10.37:g.82034333C>T	ENSP00000361287:p.Arg343Gln						p.R343Q	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		7	1283	-			343					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.1028G>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561415	0.27915	2.27E-4	0.0	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.97620	-4.46	5.09	-0.771	0.11002	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.428221	0.25422	N	0.030793	D	0.89891	0.6846	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81801	-0.0766	10	0.45353	T	0.12	-1.5604	9.6003	0.39601	0.0:0.4489:0.0:0.5511	.	343	Q00266	METK1_HUMAN	Q	343	ENSP00000361287:R343Q	ENSP00000361280:R343Q	R	-	2	0	MAT1A	82024313	0.000000	0.05858	0.007000	0.13788	0.572000	0.35998	-0.785000	0.04628	-0.194000	0.10399	-0.797000	0.03246	CGA		0.557	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		T	82034333	C	T	82034333	3	4	190	1	0	0	0	0	1	0	0	0	9329	884	31	2	167	2	MAT1A	10	82034333	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	33604945	82034333	53500414	61	13412											
PTEN	5728	broad.mit.edu	37	chr10	89720670	89720671	+	Missense_Mutation	DNP	GG	GG	CT																															ggacaaaatgtttcacttttGggtaaatacattcttcatac																								rs587782607		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:89720670_89720671GG>CT	ENST00000371953.3	+	8	2178_2179	c.821_822GG>CT	c.(820-822)tGG>tCT	p.W274S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	274	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.W274*(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTCACTTTTGGGTAAATACAT	0.267		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		57	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(7)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.W274*(14)|p.R55fs*1(5)|p.W274G(3)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F273S(1)|p.G165_*404del(1)|p.W274R(1)|p.G165_K342del(1)	central_nervous_system(16)|prostate(16)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(820-822)tgg>tCT		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720670_89720671GG>CT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	Exception_encountered	10.37:g.89720670_89720671delinsCT	ENSP00000361021:p.Trp274Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.W274S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1853_1854	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	274			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	DNP	ENST00000371953.3	37	c.821_822GG>CT	CCDS31238.1																																																																																				0.267	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		CT	89720671	GG	CT	89720670	3	2	190	1	0	0	0	0	1	0	0	0	12738	1357	47	5	851	5	PTEN	10	89720670	Missense_Mutation	DNP	GG	TCGA-27-1838-01A-01D-1494-08	7686337	89720670	45814077	62	13413											
AFAP1L2	84632	broad.mit.edu	37	chr10	116062141	116062141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaatacaggagaccctatCggcatccacatagtcgtagg	13	7	9	12	2	0	1	0	0	0	1	3	2	1	1	2	3	1	2	2	3	5	4	rs540007841	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:116062141C>T	ENST00000304129.4	-	12	1416	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.D463N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D516N|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	463					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGACCCTATCGGCATCCACA	0.527													C|||	2	0.000399361	0	0.0014	5008	,	,		18661	0		0	False		,,,				2504	0.001					uc001lbn.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1387-1389)Gat>Aat		Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.							150	164	159					10																	116062141		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062141C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1387G>A	10.37:g.116062141C>T	ENSP00000303042:p.Asp463Asn					AFAP1L2_uc001lbo.3_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.3_5'Flank|AFAP1L2_uc010qsd.2_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	p.D463N	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	11	1688	-		Colorectal(252;0.175)|Breast(234;0.231)	463					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1387G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219542	0.79464	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.29917	1.55;1.55;1.55	5.67	4.72	0.59763	.	0.290735	0.37178	N	0.002204	T	0.48840	0.1522	M	0.67953	2.075	0.39781	D	0.972308	D;B;D;D;D;D	0.69078	0.997;0.131;0.995;0.99;0.995;0.992	P;B;P;P;P;P	0.58873	0.808;0.042;0.647;0.847;0.808;0.647	T	0.55976	-0.8055	10	0.87932	D	0	-25.2235	13.6338	0.62210	0.0:0.9218:0.0:0.0782	.	516;29;517;491;463;463	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	N	463;463;490;516	ENSP00000358276:D463N;ENSP00000303042:D463N;ENSP00000444511:D516N	ENSP00000303042:D463N	D	-	1	0	AFAP1L2	116052131	1.000000	0.71417	0.803000	0.32268	0.803000	0.45373	4.953000	0.63624	1.310000	0.45006	-0.345000	0.07892	GAT		0.527	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		T	116062141	C	T	116062141	3	4	190	1	0	0	0	0	1	0	0	0	355	884	31	2	1101	2	AFAP1L2	10	116062141	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	26341471	116062141	19472606	63	13414											
C11orf35	256329	broad.mit.edu	37	chr11	556891	556891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgctcggaggaagcgCggtggtcccggggcgggtgc	3	6	21	11	6	0	0	0	0	0	0	2	2	1	2	1	7	3	2	1	7	1	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:556891C>T	ENST00000329451.3	-	8	982	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		307										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGAAGCGCGGTGGTCCCG	0.692																																						uc001lpx.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(919-921)cGc>cAc		Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.							13	16	15					11																	556891		2177	4284	6461	SO:0001583	missense	256329							g.chr11:556891C>T																												ENST00000329451.3:c.920G>A	11.37:g.556891C>T	ENSP00000331167:p.Arg307His					AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	p.R307H	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	983	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	307						Missense_Mutation	SNP	ENST00000329451.3	37	c.920G>A	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728983	0.30684	.	.	ENSG00000185522	ENST00000329451	T	0.44083	0.93	3.22	-6.45	0.01914	.	2.652340	0.01424	N	0.014474	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11372	-1.0590	10	0.14252	T	0.57	-5.4475	3.2504	0.06812	0.1691:0.5378:0.1296:0.1635	.	307	Q8IXW0	CK035_HUMAN	H	307	ENSP00000331167:R307H	ENSP00000331167:R307H	R	-	2	0	C11orf35	546891	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.816000	0.00752	-1.501000	0.01817	0.313000	0.20887	CGC		0.692	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			T	556891	C	T	556891	3	4	190	1	0	0	0	0	1	0	0	0	1638	768	27	1	1012	1	C11orf35	11	556891	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		556891	134449625	64	13415											
OR4A15	81328	broad.mit.edu	37	chr11	55135749	55135749	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgtatggctcaacttttTatggatcatttatttgctgg	7	19	10	5	0	2	0	2	0	0	0	2	1	2	1	0	4	2	4	0	4	4	8			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55135749T>C	ENST00000314706.3	+	1	390	c.390T>C	c.(388-390)ttT>ttC	p.F130F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCAACTTTTTATGGATCATT	0.403																																						uc010rif.2																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(388-390)ttT>ttC		Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.							160	158	158					11																	55135749		2201	4294	6495	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135749T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.390T>C	11.37:g.55135749T>C							p.F130F	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			0	390	+			130					Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.390T>C	CCDS31500.1																																																																																				0.403	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		C	55135749	T	C	55135749	2	2	190	1	0	0	0	0	0	0	0	1	11040	1751	61	4		4	OR4A15	11	55135749	Silent	SNP	T	TCGA-27-1838-01A-01D-1494-08	54578858	55135749	79870767	65	13416											
OR5D16	390144	broad.mit.edu	37	chr11	55606949	55606950	+	Frame_Shift_Ins	INS	-	-	CACCT																															gggcaccgcaaagtcttctcINScacctgtgcctcccacctga																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55606949_55606950insCACCT	ENST00000378396.1	+	1	722_723	c.722_723insCACCT	c.(721-726)tccaccfs	p.-242fs		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAGTCTTCTCCACCTGTGCCT	0.49																																						uc010rio.2																			0		p.F240L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(721-723)tccfs		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.																																				SO:0001589	frameshift_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606949_55606950insCACCT	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.723_727dupCACCT	11.37:g.55606950_55606954dupCACCT	ENSP00000367649:p.Thr242fs						p.S241fs	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	722_723	+		all_epithelial(135;0.208)	241					Q6IF65|Q96RB4	Frame_Shift_Ins	INS	ENST00000378396.1	37	c.722_723insCACCT	CCDS31512.1																																																																																				0.49	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		CACCT	55606950	-	CACCT	55606949	7	5	190	1	0	1	1	0	0	0	0	0	11156	855	30	0	724	0	OR5D16	11	55606949	Frame_Shift_Ins	INS	-	TCGA-27-1838-01A-01D-1494-08	471200	55606949	79399567	66	13417											
OR8H2	390151	broad.mit.edu	37	chr11	55873210	55873210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaaaattaattccaCttcaggaaagcagaaagctt	16	10	6	9	0	1	2	1	1	0	1	3	3	3	3	2	1	2	2	2	1	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55873210C>T	ENST00000313503.1	+	1	692	c.692C>T	c.(691-693)aCt>aTt	p.T231I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTAATTCCACTTCAGGAAAG	0.373										HNSCC(53;0.14)																												uc010riy.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(691-693)aCt>aTt		Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.							119	115	116					11																	55873210		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873210C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.692C>T	11.37:g.55873210C>T	ENSP00000323982:p.Thr231Ile	HNSCC(53;0.14)					p.T231I	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			0	692	+	Esophageal squamous(21;0.00693)		231					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.692C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	6.405	0.442937	0.12164	.	.	ENSG00000181767	ENST00000313503	T	0.00145	8.67	3.58	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.495531	0.19017	N	0.124906	T	0.00210	0.0006	L	0.53617	1.68	0.09310	N	1	B	0.24675	0.109	B	0.37451	0.25	T	0.15549	-1.0433	10	0.62326	D	0.03	.	11.3409	0.49533	0.0:0.9076:0.0:0.0924	.	231	Q8N162	OR8H2_HUMAN	I	231	ENSP00000323982:T231I	ENSP00000323982:T231I	T	+	2	0	OR8H2	55629786	0.000000	0.05858	0.618000	0.29105	0.207000	0.24258	-0.835000	0.04386	0.807000	0.34208	0.440000	0.28878	ACT		0.373	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		T	55873210	C	T	55873210	3	4	190	1	0	0	0	0	1	0	0	0	11238	565	20	3	694	3	OR8H2	11	55873210	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	266261	55873210	79133306	67	13418											
ZP1	22917	broad.mit.edu	37	chr11	60637220	60637220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctcccaaggctctggcCatgcctttcccagcccactg	7	9	7	18	0	1	0	0	0	1	0	3	0	3	0	6	2	3	1	6	2	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:60637220C>G	ENST00000278853.5	+	3	529	c.529C>G	c.(529-531)Cat>Gat	p.H177D		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	177					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTCTGGCCATGCCTTTCC	0.627																																						uc001nqd.3																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(529-531)Cat>Gat		Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.							71	77	75					11																	60637220		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637220C>G	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.529C>G	11.37:g.60637220C>G	ENSP00000278853:p.His177Asp					ZP1_uc001nqe.3_5'Flank	p.H177D	NM_207341	NP_997224	P60852	ZP1_HUMAN			2	549	+			177						Missense_Mutation	SNP	ENST00000278853.5	37	c.529C>G	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	8.090	0.774266	0.16051	.	.	ENSG00000149506	ENST00000278853	T	0.22743	1.94	2.2	2.2	0.27929	.	0.338820	0.17321	U	0.178483	T	0.11879	0.0289	L	0.44542	1.39	0.09310	N	1	P	0.37233	0.588	B	0.21708	0.036	T	0.17837	-1.0356	10	0.17832	T	0.49	-1.7778	7.8514	0.29457	0.0:1.0:0.0:0.0	.	177	P60852	ZP1_HUMAN	D	177	ENSP00000278853:H177D	ENSP00000278853:H177D	H	+	1	0	ZP1	60393796	0.021000	0.18746	0.036000	0.18154	0.053000	0.15095	0.608000	0.24223	1.194000	0.43101	0.460000	0.39030	CAT		0.627	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		G	60637220	C	G	60637220	3	3	190	1	0	0	0	0	1	0	0	0	18212	594	21	5	539	5	ZP1	11	60637220	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	4764010	60637220	74369296	68	13419											
FTH1	2495	broad.mit.edu	37	chr11	61732280	61732280	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgggcgctcccatcttGcgcaagttggtcacgtggtc	5	11	13	12	4	2	0	1	0	1	0	5	1	3	0	1	3	1	3	1	3	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:61732280G>C	ENST00000273550.7	-	4	705	c.471C>G	c.(469-471)cgC>cgG	p.R157R	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Silent_p.R127R|FTH1_ENST00000532601.1_Silent_p.R87R|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	157	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTCCCATCTTGCGCAAGTTGG	0.493																																						uc001nsu.3																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(469-471)cgC>cgG		Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	Iron Dextran(DB00893)						57	54	55					11																	61732280		1884	4095	5979	SO:0001819	synonymous_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732280G>C		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.471C>G	11.37:g.61732280G>C							p.R157R	NM_002032	NP_002023	P02794	FRIH_HUMAN			3	706	-			157			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Silent	SNP	ENST00000273550.7	37	c.471C>G	CCDS41655.1																																																																																				0.493	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		C	61732280	G	C	61732280	2	2	190	1	0	0	0	0	0	0	0	1	6082	1306	46	5		5	FTH1	11	61732280	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	1095060	61732280	73274236	69	13420											
PGR	5241	broad.mit.edu	37	chr11	100933263	100933263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaaagaactggaggtGtcaggttttgtgttgtcatg	9	13	14	5	0	3	1	3	0	0	1	3	2	3	2	0	3	2	3	0	3	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:100933263G>T	ENST00000325455.5	-	4	3580	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	PGR_ENST00000534013.1_Missense_Mutation_p.D115E|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	709	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AACTGGAGGTGTCAGGTTTTG	0.408																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2125-2127)gaC>gaA		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						213	198	203					11																	100933263		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933263G>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2127C>A	11.37:g.100933263G>T	ENSP00000325120:p.Asp709Glu					PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	p.D709E	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	3	2870	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	709			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2127C>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479294	0.26511	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.96459	-4.02;-4.02	5.86	-9.27	0.00659	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.098474	0.64402	D	0.000002	D	0.88142	0.6357	L	0.35723	1.085	0.80722	D	1	B;B	0.15930	0.015;0.002	B;B	0.11329	0.006;0.003	T	0.65837	-0.6071	10	0.21014	T	0.42	.	4.9446	0.13984	0.5831:0.0739:0.223:0.12	.	709;90	P06401;A7LQ08	PRGR_HUMAN;.	E	709;115	ENSP00000325120:D709E;ENSP00000436561:D115E	ENSP00000325120:D709E	D	-	3	2	PGR	100438473	0.011000	0.17503	0.750000	0.31169	0.806000	0.45545	-0.804000	0.04535	-1.374000	0.02131	-0.793000	0.03317	GAC		0.408	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			T	100933263	G	T	100933263	3	4	190	1	0	0	0	0	1	0	0	0	11805	1368	48	5	694	5	PGR	11	100933263	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	39200983	100933263	34073253	70	13421											
CDCA3	83461	broad.mit.edu	37	chr12	6959664	6959664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcataggtgtccgtgcaaTaccaagagtaggagagcggg	11	8	14	8	2	1	2	1	0	0	2	2	3	2	2	2	3	3	2	2	3	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:6959664T>C	ENST00000538862.2	-	3	1118	c.217A>G	c.(217-219)Att>Gtt	p.I73V	CDCA3_ENST00000540683.1_Missense_Mutation_p.I73V|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.I73V|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.I73V|CDCA3_ENST00000422785.3_Missense_Mutation_p.I73V|USP5_ENST00000389231.5_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	73					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GTCCGTGCAATACCAAGAGTA	0.547																																						uc001qrg.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(217-219)Att>Gtt		Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.							160	147	151					12																	6959664		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6959664T>C	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.217A>G	12.37:g.6959664T>C	ENSP00000442068:p.Ile73Val					CDCA3_uc001qre.2_Missense_Mutation_p.I73V|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	p.I73V	NM_031299	NP_112589	Q99618	CDCA3_HUMAN			2	345	-			73					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.217A>G	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810233	0.50421	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.67	4.51	0.55191	.	0.064001	0.64402	D	0.000009	T	0.46946	0.1419	M	0.62016	1.91	0.39828	D	0.972922	P;P	0.44429	0.577;0.835	B;B	0.38264	0.269;0.269	T	0.48885	-0.8995	9	0.42905	T	0.14	-14.3654	9.9331	0.41534	0.1518:0.0:0.0:0.8482	.	73;73	Q99618;F8WDL1	CDCA3_HUMAN;.	V	73	.	ENSP00000229265:I73V	I	-	1	0	U47924.25;CDCA3	6829925	1.000000	0.71417	0.957000	0.39632	0.072000	0.16883	5.754000	0.68743	0.961000	0.38030	-0.333000	0.08304	ATT		0.547	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		C	6959664	T	C	6959664	3	2	190	1	0	0	0	0	1	0	0	0	3087	1406	49	4	605	4	CDCA3	12	6959664	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		6959664	126892231	71	13422											
ABCC9	10060	broad.mit.edu	37	chr12	21960380	21960380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctgtctctgtccaacgCtaaaattctccccaccttca	10	12	4	15	1	3	0	1	0	2	0	6	0	4	0	4	0	2	2	4	0	4	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21960380C>G	ENST00000261201.4	-	36	4348	c.4349G>C	c.(4348-4350)aGc>aCc	p.S1450T	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1414T|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1450T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1450	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGTCCAACGCTAAAATTCTC	0.433																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4348-4350)aGc>aCc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						131	117	122					12																	21960380		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21960380C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4349G>C	12.37:g.21960380C>G	ENSP00000261201:p.Ser1450Thr					ABCC9_uc001rfi.1_Missense_Mutation_p.S1450T	p.S1450T	NM_020297	NP_064693	O60706	ABCC9_HUMAN			35	4369	-			1450			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4349G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631023	0.87660	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.02	5.02	0.67125	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.97667	1.0164	10	0.87932	D	0	-15.8593	18.5246	0.90967	0.0:1.0:0.0:0.0	.	1450;1450	O60706;O60706-2	ABCC9_HUMAN;.	T	1450;1077;1450;1414	ENSP00000261200:S1450T;ENSP00000440521:S1077T;ENSP00000261201:S1450T;ENSP00000261202:S1414T	ENSP00000261200:S1450T	S	-	2	0	ABCC9	21851647	1.000000	0.71417	0.840000	0.33206	0.936000	0.57629	7.534000	0.82004	2.585000	0.87301	0.561000	0.74099	AGC		0.433	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		G	21960380	C	G	21960380	3	3	190	1	0	0	0	0	1	0	0	0	59	797	28	5	454	5	ABCC9	12	21960380	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	15000716	21960380	111891515	72	13423											
ABCC9	10060	broad.mit.edu	37	chr12	21968784	21968784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacacagatcatgtatcttGatctccccttcttgtggcca	9	13	6	13	0	4	2	1	1	3	1	5	2	4	2	3	1	0	1	3	1	1	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21968784G>C	ENST00000261201.4	-	32	3935	c.3936C>G	c.(3934-3936)atC>atG	p.I1312M	ABCC9_ENST00000345162.2_Missense_Mutation_p.I1276M|ABCC9_ENST00000261200.4_Missense_Mutation_p.I1312M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1312	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATGTATCTTGATCTCCCCTT	0.403																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3934-3936)atC>atG		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						153	137	142					12																	21968784		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968784G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3936C>G	12.37:g.21968784G>C	ENSP00000261201:p.Ile1312Met					ABCC9_uc001rfi.1_Missense_Mutation_p.I1312M	p.I1312M	NM_020297	NP_064693	O60706	ABCC9_HUMAN			31	3956	-			1312			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3936C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110147	0.37242	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.95	4.05	0.47172	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.86573	2.825	0.45097	D	0.998114	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.96290	0.9213	10	0.87932	D	0	-17.5927	14.8258	0.70110	0.0754:0.0:0.9246:0.0	.	1312;1312	O60706;O60706-2	ABCC9_HUMAN;.	M	1312;939;1312;1276	ENSP00000261200:I1312M;ENSP00000440521:I939M;ENSP00000261201:I1312M;ENSP00000261202:I1276M	ENSP00000261200:I1312M	I	-	3	3	ABCC9	21860051	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.531000	0.36018	0.687000	0.31509	-1.128000	0.01989	ATC		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		C	21968784	G	C	21968784	3	2	190	1	0	0	0	0	1	0	0	0	59	1280	45	5	883	5	ABCC9	12	21968784	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	8404	21968784	111883111	73	13424											
ABCC9	10060	broad.mit.edu	37	chr12	21970190	21970190	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcactgcacccatctGgacctccaggtcagccaagt	8	10	7	16	0	4	0	2	0	2	0	5	1	5	1	4	2	2	1	4	2	1	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21970190G>A	ENST00000261201.4	-	31	3822	c.3823C>T	c.(3823-3825)Cag>Tag	p.Q1275*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Q1239*|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.Q1275*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1275					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCACCCATCTGGACCTCCAGG	0.373																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3823-3825)Cag>Tag		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						133	136	135					12																	21970190		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970190G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3823C>T	12.37:g.21970190G>A	ENSP00000261201:p.Gln1275*					ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q1275*	p.Q1275*	NM_020297	NP_064693	O60706	ABCC9_HUMAN			30	3843	-			1275					O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.3823C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	42	9.274526	0.99122	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	4.52	4.52	0.55395	.	0.125558	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.1873	17.7929	0.88561	0.0:0.0:1.0:0.0	.	.	.	.	X	1275;902;1275;1239	.	ENSP00000261200:Q1275X	Q	-	1	0	ABCC9	21861457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.435000	0.97529	2.525000	0.85131	0.650000	0.86243	CAG		0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21970190	G	A	21970190	4	1	190	1	0	0	0	0	0	1	0	0	59	1357	47	3	1000	3	ABCC9	12	21970190	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1406	21970190	111881705	74	13425											
ABCC9	10060	broad.mit.edu	37	chr12	21981913	21981913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgacctccagccatctGttggcagctgagagaaataa	11	9	10	11	0	1	3	0	2	1	1	3	4	3	3	4	1	2	3	4	1	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21981913G>T	ENST00000261201.4	-	29	3647	c.3648C>A	c.(3646-3648)aaC>aaA	p.N1216K	ABCC9_ENST00000345162.2_Missense_Mutation_p.N1180K|ABCC9_ENST00000261200.4_Missense_Mutation_p.N1216K|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1216	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCAGCCATCTGTTGGCAGCTG	0.423																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3646-3648)aaC>aaA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						212	190	198					12																	21981913		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21981913G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3648C>A	12.37:g.21981913G>T	ENSP00000261201:p.Asn1216Lys					ABCC9_uc001rfi.1_Missense_Mutation_p.N1216K	p.N1216K	NM_020297	NP_064693	O60706	ABCC9_HUMAN			28	3668	-			1216			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3648C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939212	0.73557	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90324	-2.65;-1.57;-2.65;-2.65	4.2	4.2	0.49525	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.92833	3.35	0.54753	D	0.999985	D;D	0.56035	0.974;0.96	D;P	0.65233	0.933;0.596	D	0.95691	0.8740	10	0.72032	D	0.01	-15.6097	10.7285	0.46083	0.0885:0.0:0.9115:0.0	.	1216;1216	O60706;O60706-2	ABCC9_HUMAN;.	K	1216;843;1216;1180	ENSP00000261200:N1216K;ENSP00000440521:N843K;ENSP00000261201:N1216K;ENSP00000261202:N1180K	ENSP00000261200:N1216K	N	-	3	2	ABCC9	21873180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.165000	0.71891	2.331000	0.79229	0.467000	0.42956	AAC		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21981913	G	T	21981913	3	4	190	1	0	0	0	0	1	0	0	0	59	1368	48	5	1183	5	ABCC9	12	21981913	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11723	21981913	111869982	75	13426											
OR6C6	283365	broad.mit.edu	37	chr12	55688288	55688288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtcatggagacaacaatCatgtgggaagtacaggtgga	14	9	13	5	0	2	1	2	0	0	1	2	4	2	3	0	4	2	1	0	4	5	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:55688288C>G	ENST00000358433.2	-	1	728	c.729G>C	c.(727-729)atG>atC	p.M243I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368																																						uc010sph.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(727-729)atG>atC		Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.							113	121	118					12																	55688288		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688288C>G		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.729G>C	12.37:g.55688288C>G	ENSP00000351211:p.Met243Ile						p.M243I	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			0	729	-			243						Missense_Mutation	SNP	ENST00000358433.2	37	c.729G>C	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	8.584	0.882935	0.17467	.	.	ENSG00000188324	ENST00000358433	T	0.32988	1.43	4.33	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.094481	0.45361	D	0.000368	T	0.16642	0.0400	N	0.13003	0.285	0.25041	N	0.991206	B	0.12013	0.005	B	0.23150	0.044	T	0.12477	-1.0546	10	0.49607	T	0.09	.	5.6912	0.17831	0.0:0.6575:0.1631:0.1794	.	243	A6NF89	OR6C6_HUMAN	I	243	ENSP00000351211:M243I	ENSP00000351211:M243I	M	-	3	0	OR6C6	53974555	0.000000	0.05858	0.955000	0.39395	0.651000	0.38670	-0.318000	0.08050	1.178000	0.42870	0.644000	0.83932	ATG		0.368	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			G	55688288	C	G	55688288	3	3	190	1	0	0	0	0	1	0	0	0	11194	826	29	5	217	5	OR6C6	12	55688288	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	33706375	55688288	78163607	76	13427											
NUP107	57122	broad.mit.edu	37	chr12	69115670	69115670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttgggcctacttccGggtgatggtggacagtctgg	6	11	15	9	1	1	1	0	1	1	0	2	2	2	2	2	5	1	1	2	5	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:69115670G>A	ENST00000229179.4	+	16	1693	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	NUP107_ENST00000378905.2_Missense_Mutation_p.R303Q|NUP107_ENST00000539906.1_Missense_Mutation_p.R425Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCTACTTCCGGGTGATGGTG	0.448																																						uc001suf.3																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1360-1362)cGg>cAg		Homo sapiens nucleoporin 107kDa (NUP107), mRNA.							102	103	103					12																	69115670		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69115670G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1361G>A	12.37:g.69115670G>A	ENSP00000229179:p.Arg454Gln					NUP107_uc001sug.3_Missense_Mutation_p.R301Q|NUP107_uc010stj.2_Missense_Mutation_p.R425Q	p.R454Q	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		15	1476	+	Breast(13;6.25e-06)		454					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1361G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972301	0.92919	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.02	5.02	0.67125	.	0.093105	0.64402	D	0.000001	T	0.76955	0.4060	M	0.77103	2.36	0.51767	D	0.999937	D;D;D	0.76494	0.996;0.999;0.998	P;D;P	0.70935	0.801;0.971;0.883	T	0.77945	-0.2397	8	.	.	.	-17.0	12.1316	0.53946	0.0791:0.0:0.9209:0.0	.	425;303;454	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	Q	454;303;425	.	.	R	+	2	0	NUP107	67401937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.208000	0.72165	2.519000	0.84933	0.455000	0.32223	CGG		0.448	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		A	69115670	G	A	69115670	3	1	190	1	0	0	0	0	1	0	0	0	10753	1116	39	2	1423	2	NUP107	12	69115670	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	13427382	69115670	64736225	77	13428											
FLT3	2322	broad.mit.edu	37	chr13	28636174	28636174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagctctggggtctcaaCgcacacccgaggtcttccgg	6	8	12	15	3	3	1	1	1	3	0	5	2	4	1	3	4	2	2	3	4	1	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr13:28636174C>T	ENST00000241453.7	-	3	279	c.198G>A	c.(196-198)gcG>gcA	p.A66A	FLT3_ENST00000380982.4_Silent_p.A66A|FLT3_ENST00000537084.1_Silent_p.A66A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	66					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGTCTCAACGCACACCCGA	0.537			"Mis, O"		"AML, ALL"																																	uc001urw.3				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		1	Substitution - coding silent(1)	p.A66A(2)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(196-198)gcG>gcA		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						93	92	93					13																	28636174		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636174C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.198G>A	13.37:g.28636174C>T						FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.A66A	p.A66A	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	2	280	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	66					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.198G>A	CCDS31953.1																																																																																				0.537	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			T	28636174	C	T	28636174	2	4	190	1	0	0	0	0	0	0	0	1	5942	523	19	1		1	FLT3	13	28636174	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08		28636174	86533704	78	13429											
RNASE11	122651	broad.mit.edu	37	chr14	21052270	21052270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcacttctgtggagctgcGgatgaagttattgctccact	8	13	10	10	1	2	1	1	1	1	0	3	3	3	3	1	2	3	3	1	2	2	3	rs144501463	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:21052270G>A	ENST00000610205.1	-	3	547	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNASE11_ENST00000555841.1_Missense_Mutation_p.R122C|RNASE11_ENST00000398009.2_Missense_Mutation_p.R122C|RNASE11_ENST00000553849.1_Missense_Mutation_p.R122C|RNASE11_ENST00000432835.2_Missense_Mutation_p.R122C|RNASE11_ENST00000398008.2_Missense_Mutation_p.R122C	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	122						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.R122S(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTGGAGCTGCGGATGAAGTTA	0.488																																						uc010ahw.3																			1	Substitution - Missense(1)	p.R122S(2)|p.R122R(1)	large_intestine(1)	endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(364-366)Cgc>Tgc		Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	96	82	87		364	1.1	0	14	dbSNP_134	87	5,8595	4.3+/-15.6	0,5,4295	yes	missense	RNASE11	NM_145250.3	180	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	benign	122/200	21052270	7,12999	2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052270G>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.364C>T	14.37:g.21052270G>A	ENSP00000476537:p.Arg122Cys					RNASE11_uc010ahv.3_Missense_Mutation_p.R122C|RNASE11_uc010ahx.3_Missense_Mutation_p.R122C|RNASE11_uc001vxs.3_Missense_Mutation_p.R122C|RNASE11_uc021rnu.1_Missense_Mutation_p.R122C	p.R122C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	700	-	all_cancers(95;0.00238)	all_lung(585;0.235)	122						Missense_Mutation	SNP	ENST00000610205.1	37	c.364C>T	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969930	0.18659	4.54E-4	5.81E-4	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;D;T	0.94723	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;-3.5;0.96	3.94	1.06	0.20224	Ribonuclease A, domain (3);	0.402361	0.24211	N	0.040526	D	0.84365	0.5456	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74858	-0.3521	10	0.48119	T	0.1	-23.0798	6.345	0.21345	0.3254:0.0:0.6746:0.0	.	122	Q8TAA1	RNS11_HUMAN	C	122	ENSP00000338288:R122C;ENSP00000451318:R122C;ENSP00000451563:R122C;ENSP00000381093:R122C;ENSP00000381092:R122C;ENSP00000395210:R122C;ENSP00000401398:R122C;ENSP00000451839:R122C;ENSP00000452412:R122C;ENSP00000415954:R122C;ENSP00000451466:R122C	ENSP00000338288:R122C	R	-	1	0	RNASE11	20122110	0.006000	0.16342	0.000000	0.03702	0.047000	0.14425	1.343000	0.33930	0.231000	0.21079	0.511000	0.50034	CGC		0.488	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		A	21052270	G	A	21052270	3	1	190	1	0	0	0	0	1	0	0	0	13401	1116	39	2	239	2	RNASE11	14	21052270	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		21052270	86297270	79	13430											
GALNTL1	57452	broad.mit.edu	37	chr14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatccggtcccgagtgcGtggggcggacgtggctgcag	4	7	19	11	5	0	1	0	1	0	0	2	3	2	2	2	5	2	3	2	5	0	0	rs61748871	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:69795188G>A	ENST00000337827.4	+	6	917	c.590G>A	c.(589-591)cGt>cAt	p.R197H	GALNT16_ENST00000553669.1_Missense_Mutation_p.R197H|GALNT16_ENST00000448469.3_Missense_Mutation_p.R197H	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	197	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCCCGAGTGCGTGGGGCGGAC	0.632													G|||	2	0.000399361	0.0015	0	5008	,	,		18402	0		0	False		,,,				2504	0					uc001xlb.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24						c.(589-591)cGt>cAt		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	99	91	94		590,590	5.4	0.2	14	dbSNP_129	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GALNTL1	NM_001168368.1,NM_020692.2	29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging,probably-damaging	197/559,197/559	69795188	4,13002	2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69795188G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.590G>A	14.37:g.69795188G>A	ENSP00000336729:p.Arg197His					GALNTL1_uc001xla.2_Missense_Mutation_p.R197H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R197H	p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	5	917	+			197			Catalytic subdomain A.		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.590G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621470	0.66787	6.81E-4	1.16E-4	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61510	0.1;0.1;0.1	5.38	5.38	0.77491	Glycosyl transferase, family 2 (1);	0.242426	0.42964	D	0.000634	T	0.77025	0.4070	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.69307	0.903;0.963	T	0.79771	-0.1663	10	0.72032	D	0.01	.	18.7307	0.91734	0.0:0.0:1.0:0.0	rs61748871	197;197	Q8N428;Q58A55	GLTL1_HUMAN;.	H	197	ENSP00000336729:R197H;ENSP00000402970:R197H;ENSP00000451200:R197H	ENSP00000336729:R197H	R	+	2	0	GALNTL1	68864941	1.000000	0.71417	0.209000	0.23619	0.186000	0.23388	7.275000	0.78548	2.525000	0.85131	0.557000	0.71058	CGT		0.632	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		A	69795188	G	A	69795188	3	1	190	1	0	0	0	0	1	0	0	0	6221	1145	40	1	612	1	GALNTL1	14	69795188	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	48742918	69795188	37554352	80	13431											
FBLN5	10516	broad.mit.edu	37	chr14	92343924	92343924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttgcatttggaagatGtcagcgggaacggagcgtcc	8	9	16	8	3	1	1	1	0	0	1	2	4	2	4	1	4	4	2	1	4	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:92343924G>A	ENST00000342058.4	-	10	1685	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	FBLN5_ENST00000556154.1_Silent_p.D369D|FBLN5_ENST00000267620.10_Silent_p.D405D|FBLN5_ENST00000556961.1_5'Flank	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	364			D -> Y (in dbSNP:rs1802492).		cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTGGAAGATGTCAGCGGGAA	0.537																																						uc010aue.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(1213-1215)gaC>gaT		Homo sapiens fibulin 5 (FBLN5), mRNA.							126	106	113					14																	92343924		2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92343924G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.1092C>T	14.37:g.92343924G>A						FBLN5_uc010aud.3_Silent_p.D369D|FBLN5_uc001xzx.4_Silent_p.D364D|FBLN5_uc001xzw.3_5'Flank	p.D405D	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			10	1688	-		all_cancers(154;0.0722)	364					O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.1215C>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163227	0.21538	.	.	ENSG00000140092	ENST00000554121	.	.	.	6.17	5.28	0.74379	.	.	.	.	.	T	0.64918	0.2642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61028	-0.7145	4	.	.	.	.	12.8703	0.57960	0.1507:0.0:0.8493:0.0	.	.	.	.	I	73	.	.	T	-	2	0	FBLN5	91413677	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.730000	0.38125	2.941000	0.99782	0.655000	0.94253	ACA		0.537	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			A	92343924	G	A	92343924	2	1	190	1	0	0	0	0	0	0	0	1	5700	1368	48	3		3	FBLN5	14	92343924	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	22548736	92343924	15005616	81	13432											
PAPOLA	10914	broad.mit.edu	37	chr14	96991694	96991694	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaggaaaaatttttacAtttggatcttacagattagg	13	15	10	3	0	1	1	0	0	1	1	1	4	1	4	0	4	2	1	0	4	5	7			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:96991694A>G	ENST00000216277.8	+	4	517	c.297A>G	c.(295-297)acA>acG	p.T99T	PAPOLA_ENST00000557471.1_Silent_p.T99T|PAPOLA_ENST00000554130.1_Intron|PAPOLA_ENST00000557320.1_Silent_p.T99T|PAPOLA_ENST00000392990.2_Silent_p.T99T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	99					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAATTTTTACATTTGGATCTT	0.323																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(295-297)acA>acG		Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.							56	61	59					14																	96991694		2203	4298	6501	SO:0001819	synonymous_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96991694A>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.297A>G	14.37:g.96991694A>G						PAPOLA_uc001yfp.3_Silent_p.T99T|PAPOLA_uc001yfo.3_Silent_p.T99T|PAPOLA_uc001yfr.3_Silent_p.T99T|PAPOLA_uc010twv.2_Silent_p.T99T|PAPOLA_uc010avp.3_5'UTR	p.T99T	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	3	514	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	99					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	c.297A>G	CCDS9946.1																																																																																				0.323	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			G	96991694	A	G	96991694	2	3	190	1	0	0	0	0	0	0	0	1	11429	204	8	4		4	PAPOLA	14	96991694	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	4647770	96991694	10357846	82	13433											
KIF26A	26153	broad.mit.edu	37	chr14	104642036	104642036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagagcctgggggaGggggcactgatggagtggca	9	4	19	9	0	0	3	0	1	0	2	0	5	0	5	3	6	1	2	3	6	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:104642036G>T	ENST00000423312.2	+	12	2911	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	KIF26A_ENST00000315264.7_Missense_Mutation_p.G832W	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	971					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCTGGGGGAGGGGGCACTGA	0.701																																						uc001yos.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(2911-2913)Ggg>Tgg		Homo sapiens kinesin family member 26A (KIF26A), mRNA.							7	10	9					14																	104642036		1814	3999	5813	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642036G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2911G>T	14.37:g.104642036G>T	ENSP00000388241:p.Gly971Trp						p.G971W	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	2911	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	971					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2911G>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564396	0.45694	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78364	-1.17;-1.17	3.57	1.48	0.22813	.	.	.	.	.	T	0.59128	0.2171	L	0.36672	1.1	0.09310	N	1	P	0.38788	0.647	B	0.29524	0.103	T	0.55774	-0.8088	9	0.66056	D	0.02	.	1.9747	0.03413	0.2107:0.2252:0.4326:0.1315	.	971	Q9ULI4	KI26A_HUMAN	W	971;832	ENSP00000388241:G971W;ENSP00000325452:G832W	ENSP00000325452:G832W	G	+	1	0	KIF26A	103711789	0.001000	0.12720	0.016000	0.15963	0.031000	0.12232	0.535000	0.23114	0.609000	0.30018	0.313000	0.20887	GGG		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104642036	G	T	104642036	3	4	190	1	0	0	0	0	1	0	0	0	8294	1000	35	5	2957	5	KIF26A	14	104642036	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	7650342	104642036	2707504	83	13434											
TUBGCP5	114791	broad.mit.edu	37	chr15	22868917	22868917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaattgattaaaattcActataggtatctgtcaacca	16	13	5	7	0	4	2	3	1	1	1	4	2	4	2	1	1	1	1	1	1	7	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:22868917A>G	ENST00000283645.4	+	20	2919	c.2789A>G	c.(2788-2790)cAc>cGc	p.H930R	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.H930R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	930					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATTAAAATTCACTATAGGTAT	0.453																																						uc001yuq.2																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(2788-2790)cAc>cGc		Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.							95	90	92					15																	22868917		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22868917A>G	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2789A>G	15.37:g.22868917A>G	ENSP00000283645:p.His930Arg					TUBGCP5_uc001yur.4_Missense_Mutation_p.H930R	p.H930R	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	19	2919	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	930					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.2789A>G	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409341	0.83340	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.21543	2.0;2.0	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.98	T	0.50550	-0.8815	10	0.87932	D	0	-20.5515	15.3726	0.74577	1.0:0.0:0.0:0.0	.	930;930	Q96RT8;E9PB12	GCP5_HUMAN;.	R	930	ENSP00000283645:H930R;ENSP00000409217:H930R	ENSP00000283645:H930R	H	+	2	0	TUBGCP5	20420358	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.304000	0.89958	2.209000	0.71365	0.533000	0.62120	CAC		0.453	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		G	22868917	A	G	22868917	3	3	190	1	0	0	0	0	1	0	0	0	16766	159	6	4	2867	4	TUBGCP5	15	22868917	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08		22868917	79662475	84	13435											
C15orf2	23742	broad.mit.edu	37	chr15	24922713	24922713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcatctgcccacctaaccTcacagactgcggtagaccct	10	7	7	17	2	2	2	1	0	1	2	2	2	2	2	4	1	3	2	4	1	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:24922713T>C	ENST00000329468.2	+	1	2173	c.1699T>C	c.(1699-1701)Tca>Cca	p.S567P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	567					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCACCTAACCTCACAGACTGC	0.488																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(1699-1701)Tca>Cca		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							140	129	133					15																	24922713		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922713T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1699T>C	15.37:g.24922713T>C	ENSP00000333735:p.Ser567Pro						p.S567P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	2173	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	567						Missense_Mutation	SNP	ENST00000329468.2	37	c.1699T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.851360	0.32699	.	.	ENSG00000185823	ENST00000329468	T	0.06449	3.3	1.73	0.574	0.17368	.	3.310570	0.01376	N	0.012744	T	0.05273	0.0140	L	0.38175	1.15	0.09310	N	1	B	0.30068	0.267	B	0.20955	0.032	T	0.35101	-0.9802	10	0.18710	T	0.47	.	3.3833	0.07262	0.0:0.2287:0.0:0.7713	.	567	Q9NZP6	CO002_HUMAN	P	567	ENSP00000333735:S567P	ENSP00000333735:S567P	S	+	1	0	C15orf2	22473806	0.001000	0.12720	0.002000	0.10522	0.146000	0.21551	0.223000	0.17719	0.149000	0.19098	0.172000	0.16884	TCA		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		C	24922713	T	C	24922713	3	2	190	1	0	0	0	0	1	0	0	0	1784	1551	54	4	1701	4	C15orf2	15	24922713	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	2053796	24922713	77608679	85	13436											
RPAP1	26015	broad.mit.edu	37	chr15	41810311	41810311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccagtaaccagggtccGgaagtagagctgaaggaggg	12	4	16	9	2	0	2	0	1	0	1	1	4	1	4	3	4	2	4	3	4	4	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:41810311G>A	ENST00000304330.4	-	23	3981	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W	RPAP1_ENST00000561603.1_Silent_p.S1036S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1289						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCAGGGTCCGGAAGTAGAGC	0.582																																						uc001zod.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(3865-3867)Cgg>Tgg		Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.							93	76	82					15																	41810311		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41810311G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3865C>T	15.37:g.41810311G>A	ENSP00000306123:p.Arg1289Trp						p.R1289W	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3989	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1289					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.3865C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903348	0.92035	.	.	ENSG00000103932	ENST00000304330	T	0.14266	2.52	5.23	4.32	0.51571	.	0.131128	0.53938	D	0.000052	T	0.28433	0.0703	L	0.61218	1.895	0.53005	D	0.999964	D	0.69078	0.997	P	0.55260	0.772	T	0.06661	-1.0814	10	0.87932	D	0	-5.1388	15.4609	0.75356	0.0:0.0:0.8604:0.1396	.	1289	Q9BWH6	RPAP1_HUMAN	W	1289	ENSP00000306123:R1289W	ENSP00000306123:R1289W	R	-	1	2	RPAP1	39597603	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.923000	0.56469	1.428000	0.47296	-0.152000	0.13540	CGG		0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		A	41810311	G	A	41810311	3	1	190	1	0	0	0	0	1	0	0	0	13541	1115	39	2	328	2	RPAP1	15	41810311	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	16887598	41810311	60721081	86	13437											
DUOX2	50506	broad.mit.edu	37	chr15	45387648	45387648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccttcttacacagcAtttggctgcccaaggatgac	9	11	8	13	0	2	1	1	1	1	0	2	2	2	2	2	2	4	3	2	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:45387648A>C	ENST00000603300.1	-	31	4428	c.4226T>G	c.(4225-4227)aTg>aGg	p.M1409R	DUOX2_ENST00000389039.6_Missense_Mutation_p.M1409R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1409					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACACAGCATTTGGCTGCC	0.532																																						uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4225-4227)aTg>aGg		Homo sapiens dual oxidase 2 (DUOX2), mRNA.							165	141	149					15																	45387648		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387648A>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4226T>G	15.37:g.45387648A>C	ENSP00000475084:p.Met1409Arg					DUOX2_uc010bea.3_Missense_Mutation_p.M1409R	p.M1409R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	30	4429	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1409					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4226T>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328735	0.60743	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.8	5.8	0.92144	Ferric reductase, NAD binding (1);	0.283387	0.46758	D	0.000274	T	0.53270	0.1786	N	0.21142	0.635	0.46678	D	0.999155	B	0.20459	0.045	B	0.29440	0.102	T	0.53019	-0.8497	9	0.66056	D	0.02	-35.5728	15.3694	0.74551	1.0:0.0:0.0:0.0	.	1409	Q9NRD8	DUOX2_HUMAN	R	1409	.	ENSP00000373691:M1409R	M	-	2	0	DUOX2	43174940	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.339000	0.96797	2.231000	0.72958	0.454000	0.30748	ATG		0.532	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		C	45387648	A	C	45387648	3	2	190	1	0	0	0	0	1	0	0	0	4801	217	8	5	436	5	DUOX2	15	45387648	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	3577337	45387648	57143744	87	13438											
ZNF263	10127	broad.mit.edu	37	chr16	3339694	3339694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcaaacctaattaggcaCcagagaatacatgcagctga	17	7	7	10	0	1	2	1	1	0	1	1	3	1	2	2	1	5	3	2	1	6	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:3339694C>A	ENST00000219069.5	+	6	2064	c.1188C>A	c.(1186-1188)caC>caA	p.H396Q	ZNF263_ENST00000574253.1_3'UTR|ZNF263_ENST00000538765.1_Missense_Mutation_p.H44Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	396					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAATTAGGCACCAGAGAATAC	0.478																																						uc002cuq.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1186-1188)caC>caA		Homo sapiens zinc finger protein 263 (ZNF263), mRNA.							102	94	97					16																	3339694		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339694C>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1188C>A	16.37:g.3339694C>A	ENSP00000219069:p.His396Gln					ZNF263_uc010uww.2_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	p.H396Q	NM_005741	NP_005732	O14978	ZN263_HUMAN			5	1520	+			396					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1188C>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881009	0.33255	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	D;D	0.99974	-10.2;-10.2	5.49	0.242	0.15498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.225081	0.31809	N	0.007036	D	0.99953	0.9980	H	0.95187	3.635	0.80722	D	1	P	0.38110	0.618	B	0.37387	0.248	D	0.95477	0.8557	10	0.87932	D	0	.	4.8778	0.13665	0.0:0.4532:0.147:0.3998	.	396	O14978	ZN263_HUMAN	Q	44;396	ENSP00000444497:H44Q;ENSP00000219069:H396Q	ENSP00000219069:H396Q	H	+	3	2	ZNF263	3279695	0.999000	0.42202	0.996000	0.52242	0.632000	0.37999	1.240000	0.32731	-0.054000	0.13266	-0.136000	0.14681	CAC		0.478	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			A	3339694	C	A	3339694	3	1	190	1	0	0	0	0	1	0	0	0	17800	506	18	5	1210	5	ZNF263	16	3339694	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		3339694	87015059	88	13439											
ATF7IP2	80063	broad.mit.edu	37	chr16	10525310	10525310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacttgacactaataacaAcagtaagtatatacttatgc	17	12	4	8	0	1	1	1	1	0	0	1	1	1	1	0	0	4	2	0	0	8	8			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:10525310A>G	ENST00000396560.2	+	3	1060	c.833A>G	c.(832-834)aAc>aGc	p.N278S	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.N278S|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.N278S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.N278S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ACTAATAACAACAGTAAGTAT	0.313																																						uc002czw.3																			0				large_intestine(3)	3						c.(832-834)aAc>aGc		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.							37	38	38					16																	10525310		2161	4277	6438	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10525310A>G	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.833A>G	16.37:g.10525310A>G	ENSP00000379808:p.Asn278Ser					ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N278S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.N278S	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			1	992	+			278					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.833A>G	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276439	0.23307	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.61	4.49	0.54785	.	1.124800	0.06700	N	0.771317	T	0.52964	0.1767	L	0.44542	1.39	0.09310	N	0.999997	D;D	0.60160	0.987;0.965	P;P	0.59357	0.856;0.786	T	0.30937	-0.9961	10	0.45353	T	0.12	1.0648	8.8221	0.35032	0.8328:0.0:0.0:0.1672	.	278;278	Q5U623-2;Q5U623	.;MCAF2_HUMAN	S	278	ENSP00000379807:N278S;ENSP00000379808:N278S;ENSP00000440791:N278S;ENSP00000348799:N278S;ENSP00000322811:N278S	ENSP00000322811:N278S	N	+	2	0	ATF7IP2	10432811	0.774000	0.28592	0.408000	0.26446	0.181000	0.23173	1.288000	0.33296	0.920000	0.36970	0.459000	0.35465	AAC		0.313	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		G	10525310	A	G	10525310	3	3	190	1	0	0	0	0	1	0	0	0	1088	43	2	4	835	4	ATF7IP2	16	10525310	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	7185616	10525310	79829443	89	13440											
AQP8	343	broad.mit.edu	37	chr16	25232824	25232824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcagccatgctgatcGgaggcctcaacctggtgatg	7	8	13	13	1	1	2	1	2	0	0	2	3	1	3	4	4	3	2	4	4	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:25232824G>A	ENST00000219660.5	+	3	432	c.307G>A	c.(307-309)Gga>Aga	p.G103R	AQP8_ENST00000566125.1_Missense_Mutation_p.G97R	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	103					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CATGCTGATCGGAGGCCTCAA	0.627																																						uc002doc.3																			0				NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(307-309)Gga>Aga		Homo sapiens aquaporin 8 (AQP8), mRNA.							110	93	99					16																	25232824		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25232824G>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"Ion channels / Aquaporins"	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.307G>A	16.37:g.25232824G>A	ENSP00000219660:p.Gly103Arg						p.G103R	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	2	389	+			103					Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.307G>A	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230849	0.95207	.	.	ENSG00000103375	ENST00000219660	D	0.94457	-3.43	5.63	5.63	0.86233	Aquaporin-like (2);	0.047298	0.85682	D	0.000000	D	0.96688	0.8919	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96263	0.9192	10	0.46703	T	0.11	-8.4864	17.1684	0.86822	0.0:0.0:1.0:0.0	.	103	O94778	AQP8_HUMAN	R	103	ENSP00000219660:G103R	ENSP00000219660:G103R	G	+	1	0	AQP8	25140325	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	7.474000	0.81024	2.644000	0.89710	0.655000	0.94253	GGA		0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		A	25232824	G	A	25232824	3	1	190	1	0	0	0	0	1	0	0	0	832	1117	39	2	317	2	AQP8	16	25232824	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	14707514	25232824	65121929	90	13441											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076568|CM951234	TP53	M		c.(823-825)tGt>tAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							71	61	64					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577114C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.C275Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1018	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.824G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577114	C	T	7577114	3	4	190	1	0	0	0	0	1	0	0	0	16378	478	17	3	462	3	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		7577114	73618096	91	13442											
TP53	7157	broad.mit.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGAGCCAACCTAGGAGATAAC	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e7-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							88	74	79					17																	7577610		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577610T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>G	17.37:g.7577610T>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	p.V225_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	225		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.673_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7577610	T	C	7577610	5	2	190	1	0	0	0	0	0	0	1	0	16378	1536	53	4	619	4	TP53	17	7577610	Splice_Site	SNP	T	TCGA-27-1838-01A-01D-1494-08	496	7577610	73617600	92	13443											
CCDC42	146849	broad.mit.edu	37	chr17	8644917	8644917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgcttggtcagctcctGcatgtgctggcacttgagtt	4	14	12	11	1	1	1	1	1	0	0	2	1	2	1	1	2	4	6	1	2	0	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:8644917G>A	ENST00000293845.3	-	4	593	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	CCDC42_ENST00000539522.2_Nonsense_Mutation_p.Q123*	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	123										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTCAGCTCCTGCATGTGCTGG	0.602																																						uc002gln.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(367-369)Cag>Tag		Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.							117	106	110					17																	8644917		2203	4300	6503	SO:0001587	stop_gained	146849							g.chr17:8644917G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.367C>T	17.37:g.8644917G>A	ENSP00000293845:p.Gln123*					CCDC42_uc002glo.3_Nonsense_Mutation_p.Q123*	p.Q123*	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			3	594	-			123					Q8N6Q0	Nonsense_Mutation	SNP	ENST00000293845.3	37	c.367C>T	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880425	0.51801	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	.	.	.	5.16	1.42	0.22433	.	0.773586	0.11326	N	0.575559	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.9052	8.6972	0.34303	0.0:0.1124:0.4713:0.4163	.	.	.	.	X	123	.	ENSP00000293845:Q123X	Q	-	1	0	CCDC42	8585642	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.576000	0.23744	0.495000	0.27882	0.491000	0.48974	CAG		0.602	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		A	8644917	G	A	8644917	4	1	190	1	0	0	0	0	0	1	0	0	2814	1328	46	3	599	3	CCDC42	17	8644917	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1067307	8644917	72550293	93	13444											
DNAH9	1770	broad.mit.edu	37	chr17	11568211	11568211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagacttatgttaactCtattgacaatttgttgctga	11	16	8	6	0	1	3	0	2	1	1	1	4	1	4	0	1	2	3	0	1	5	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:11568211C>A	ENST00000262442.4	+	15	2725	c.2657C>A	c.(2656-2658)tCt>tAt	p.S886Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S886Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	886	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGTTAACTCTATTGACAAT	0.383																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2656-2658)tCt>tAt		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							123	122	123					17																	11568211		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11568211C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2657C>A	17.37:g.11568211C>A	ENSP00000262442:p.Ser886Tyr					DNAH9_uc010coo.3_Missense_Mutation_p.S180Y	p.S886Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2725	+		Breast(5;0.0122)|all_epithelial(5;0.131)	886			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2657C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.690038	0.00100	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25085	1.86;1.82	5.56	3.21	0.36854	.	0.237331	0.36200	N	0.002735	T	0.03520	0.0101	N	0.00049	-2.42	0.25269	N	0.989536	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	10	0.02654	T	1	.	8.2499	0.31710	0.7506:0.1807:0.0686:0.0	.	886	Q9NYC9	DYH9_HUMAN	Y	886	ENSP00000262442:S886Y;ENSP00000414874:S886Y	ENSP00000262442:S886Y	S	+	2	0	DNAH9	11508936	1.000000	0.71417	0.098000	0.21074	0.016000	0.09150	4.684000	0.61686	0.259000	0.21709	-1.479000	0.00991	TCT		0.383	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11568211	C	A	11568211	3	1	190	1	0	0	0	0	1	0	0	0	4608	913	32	5	2715	5	DNAH9	17	11568211	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	2923294	11568211	69626999	94	13445											
DHX58	79132	broad.mit.edu	37	chr17	40263362	40263362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctggtcagtgccatctGcagaagctctgctgtgcaga	7	9	15	10	0	3	2	1	0	2	2	3	2	3	2	1	3	5	5	1	3	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:40263362G>T	ENST00000251642.3	-	4	544	c.322C>A	c.(322-324)Cag>Aag	p.Q108K		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	108	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTGCCATCTGCAGAAGCTCT	0.622																																						uc002hyw.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(322-324)Cag>Aag		Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.							50	47	48					17																	40263362		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40263362G>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.322C>A	17.37:g.40263362G>T	ENSP00000251642:p.Gln108Lys					DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	p.Q108K	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	3	545	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	108			Helicase ATP-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.322C>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706445	0.15239	.	.	ENSG00000108771	ENST00000251642;ENST00000413196;ENST00000430773	T;T;T	0.35605	1.3;1.3;1.3	5.54	5.54	0.83059	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.377701	0.28214	N	0.016176	T	0.29850	0.0746	L	0.29908	0.895	0.30140	N	0.803991	P;P	0.40360	0.714;0.515	B;B	0.37731	0.257;0.197	T	0.13098	-1.0522	10	0.28530	T	0.3	.	18.0465	0.89334	0.0:0.0:1.0:0.0	.	101;108	B7Z455;Q96C10	.;DHX58_HUMAN	K	108	ENSP00000251642:Q108K;ENSP00000416389:Q108K;ENSP00000404639:Q108K	ENSP00000251642:Q108K	Q	-	1	0	DHX58	37516888	1.000000	0.71417	0.990000	0.47175	0.661000	0.39034	4.478000	0.60230	2.620000	0.88729	0.555000	0.69702	CAG		0.622	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		T	40263362	G	T	40263362	3	4	190	1	0	0	0	0	1	0	0	0	4514	1328	46	5	1758	5	DHX58	17	40263362	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	28695151	40263362	40931848	95	13446											
HEATR6	63897	broad.mit.edu	37	chr17	58137429	58137429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagccttccaagatggcaGataaaacttgcagagcacag	14	8	10	9	0	0	4	0	1	0	3	1	4	1	4	2	1	4	3	2	1	3	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:58137429G>C	ENST00000184956.6	-	10	1461	c.1445C>G	c.(1444-1446)tCt>tGt	p.S482C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S482C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	482							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAAGATGGCAGATAAAACTTG	0.433																																						uc002iyk.1																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1444-1446)tCt>tGt		Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.							107	103	104					17																	58137429		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58137429G>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1445C>G	17.37:g.58137429G>C	ENSP00000184956:p.Ser482Cys					HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	p.S482C	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		9	1462	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1445C>G	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846064	0.91277	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.66460	-0.21	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.058788	0.64402	D	0.000001	T	0.81592	0.4855	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.81965	-0.0691	10	0.72032	D	0.01	-14.5639	19.2306	0.93839	0.0:0.0:1.0:0.0	.	329;482	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	482;329	ENSP00000184956:S482C	ENSP00000184956:S482C	S	-	2	0	HEATR6	55492211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.869000	0.98440	0.558000	0.71614	TCT		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		C	58137429	G	C	58137429	3	2	190	1	0	0	0	0	1	0	0	0	7033	942	33	5	2144	5	HEATR6	17	58137429	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	17874067	58137429	23057781	96	13447											
KCNJ16	3773	broad.mit.edu	37	chr17	68128948	68128948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatttaaagacctcaaattAgtcaacgaccaaatcatcct	16	10	4	11	1	3	1	3	0	0	1	4	2	4	1	3	0	1	1	3	0	6	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:68128948A>T	ENST00000589377.1	+	2	883	c.720A>T	c.(718-720)ttA>ttT	p.L240F	KCNJ16_ENST00000585558.1_Missense_Mutation_p.L275F|KCNJ16_ENST00000586462.1_Missense_Mutation_p.L279F|KCNJ16_ENST00000392670.1_Missense_Mutation_p.L240F|KCNJ16_ENST00000283936.1_Missense_Mutation_p.L240F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.L240F	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	240					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCTCAAATTAGTCAACGACC	0.483																																						uc002jiq.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(814-816)ttA>ttT		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.							99	89	92					17																	68128948		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128948A>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.720A>T	17.37:g.68128948A>T	ENSP00000465967:p.Leu240Phe					KCNJ16_uc002jin.3_Missense_Mutation_p.L240F|KCNJ16_uc002jio.3_Missense_Mutation_p.L240F|KCNJ16_uc002jip.3_Missense_Mutation_p.L240F|KCNJ16_uc021uch.1_Missense_Mutation_p.L240F	p.L272F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN			2	956	+	Breast(10;2.96e-09)		240						Missense_Mutation	SNP	ENST00000589377.1	37	c.816A>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914543	0.33815	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94417	-3.42;-3.42;-3.42	5.74	-9.1	0.00714	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.858381	0.10088	N	0.717596	D	0.92928	0.7750	L	0.28608	0.87	0.27382	N	0.955389	D;P	0.71674	0.998;0.889	D;P	0.72338	0.977;0.526	D	0.88246	0.2913	9	.	.	.	.	12.7904	0.57530	0.2414:0.1808:0.5778:0.0	.	240;240	A8K434;Q9NPI9	.;IRK16_HUMAN	F	240	ENSP00000283936:L240F;ENSP00000376439:L240F;ENSP00000376438:L240F	.	L	+	3	2	KCNJ16	65640543	0.076000	0.21285	0.014000	0.15608	0.141000	0.21300	-0.429000	0.06982	-1.697000	0.01420	-0.256000	0.11100	TTA		0.483	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		T	68128948	A	T	68128948	3	4	190	1	0	0	0	0	1	0	0	0	8050	417	15	5	722	5	KCNJ16	17	68128948	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	9991519	68128948	13066262	97	13448											
SMCHD1	23347	broad.mit.edu	37	chr18	2688412	2688412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcattcaggatatgttcGtccagtaccagtgccacgca	10	11	9	11	2	2	1	2	1	0	0	4	2	3	2	3	1	2	3	3	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:2688412G>A	ENST00000320876.6	+	6	997	c.659G>A	c.(658-660)cGt>cAt	p.R220H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R220H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	220					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGATATGTTCGTCCAGTACCA	0.368																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(658-660)cGt>cAt		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							104	101	102					18																	2688412		1905	4118	6023	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2688412G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.659G>A	18.37:g.2688412G>A	ENSP00000326603:p.Arg220His						p.R220H	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			5	848	+			220					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.659G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605375	0.46423	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24908	1.83;1.83	5.08	4.21	0.49690	ATPase-like, ATP-binding domain (2);	0.060918	0.64402	D	0.000003	T	0.39279	0.1072	L	0.34521	1.04	0.33983	D	0.648232	D	0.89917	1.0	D	0.79784	0.993	T	0.55667	-0.8105	10	0.87932	D	0	.	13.7539	0.62923	0.0748:0.0:0.9252:0.0	.	220	A6NHR9	SMHD1_HUMAN	H	220	ENSP00000326603:R220H;ENSP00000261598:R220H	ENSP00000261598:R220H	R	+	2	0	SMCHD1	2678412	1.000000	0.71417	0.964000	0.40570	0.795000	0.44927	5.892000	0.69790	1.260000	0.44134	0.655000	0.94253	CGT		0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2688412	G	A	2688412	3	1	190	1	0	0	0	0	1	0	0	0	14788	1145	40	1	681	1	SMCHD1	18	2688412	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		2688412	75388836	98	13449											
DSG4	147409	broad.mit.edu	37	chr18	28993484	28993484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcccataggccaaaccGttggctccacatcccccatg	9	8	6	18	1	0	0	0	0	0	0	3	0	3	0	7	2	1	2	7	2	2	3	rs186256193	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:28993484G>A	ENST00000308128.4	+	16	3184	c.3049G>A	c.(3049-3051)Gtt>Att	p.V1017I	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.V1036I|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1017					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCAAACCGTTGGCTCCAC	0.453													.|||	2	0.000399361	0	0.0014	5008	,	,		19483	0.001		0	False		,,,				2504	0					uc002kwr.2																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(3106-3108)Gtt>Att		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							88	90	89					18																	28993484		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993484G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.3049G>A	18.37:g.28993484G>A	ENSP00000311859:p.Val1017Ile					DSG4_uc002kwq.2_Missense_Mutation_p.V1017I	p.V1036I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	3241	+			1017					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.3106G>A	CCDS11897.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.159	-1.083685	0.01888	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.56444	0.55;0.46	5.56	0.271	0.15640	.	1.378350	0.05336	N	0.529181	T	0.20373	0.0490	N	0.00538	-1.39	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.13202	-1.0518	10	0.33940	T	0.23	.	6.2346	0.20756	0.6409:0.1258:0.2333:0.0	.	1036;1017	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	1017;1036	ENSP00000311859:V1017I;ENSP00000352785:V1036I	ENSP00000311859:V1017I	V	+	1	0	DSG4	27247482	0.822000	0.29219	0.074000	0.20217	0.045000	0.14185	0.187000	0.16998	-0.186000	0.10533	-0.194000	0.12790	GTT		0.453	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		A	28993484	G	A	28993484	3	1	190	1	0	0	0	0	1	0	0	0	4779	1145	40	1	3232	1	DSG4	18	28993484	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	26305072	28993484	49083764	99	13450											
CDH19	28513	broad.mit.edu	37	chr18	64218401	64218401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacttgttgttccagacaaCgctcctggctgaccaatcat	10	11	7	13	1	1	2	1	1	0	1	3	2	3	2	3	1	1	4	3	1	2	3	rs367564105		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:64218401C>T	ENST00000540086.1	-	5	951	c.705G>A	c.(703-705)gcG>gcA	p.A235A	CDH19_ENST00000262150.2_Silent_p.A235A	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	343	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTCCAGACAACGCTCCTGGCT	0.328																																						uc002lkc.1																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(703-705)gcG>gcA		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	83	88	86		705	-3.3	0.8	18		86	0,8600		0,0,4300	no	coding-synonymous	CDH19	NM_021153.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		235/773	64218401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64218401C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.705G>A	18.37:g.64218401C>T						CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.3_Silent_p.A235A	p.A235A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			4	843	-		Esophageal squamous(42;0.0132)	235			Cadherin 2.		O15098	Silent	SNP	ENST00000540086.1	37	c.705G>A	CCDS59325.1																																																																																				0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		T	64218401	C	T	64218401	2	4	190	1	0	0	0	0	0	0	0	1	3104	523	19	1		1	CDH19	18	64218401	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	35224917	64218401	13858847	100	13451											
FBN3	84467	broad.mit.edu	37	chr19	8191373	8191373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatctcgcagcgttcgcaggGgctcccccaggctgccccga	5	6	13	17	4	1	0	0	0	1	0	4	2	2	0	4	3	2	5	4	3	0	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:8191373G>C	ENST00000600128.1	-	20	2947	c.2533C>G	c.(2533-2535)Ccc>Gcc	p.P845A	FBN3_ENST00000601739.1_Missense_Mutation_p.P845A|FBN3_ENST00000270509.2_Missense_Mutation_p.P845A			Q75N90	FBN3_HUMAN	fibrillin 3	845	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTCGCAGGGGCTCCCCCAG	0.667																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2533-2535)Ccc>Gcc		Homo sapiens fibrillin 3 (FBN3), mRNA.							21	24	23					19																	8191373		2201	4300	6501	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191373G>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2533C>G	19.37:g.8191373G>C	ENSP00000470498:p.Pro845Ala						p.P845A	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			18	2550	-			845			TB 4.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2533C>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	14.83	2.653764	0.47362	.	.	ENSG00000142449	ENST00000270509	D	0.93488	-3.23	3.63	3.63	0.41609	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.95950	0.8681	M	0.83312	2.635	0.54753	D	0.999988	D	0.64830	0.994	P	0.59056	0.851	D	0.96558	0.9413	10	0.66056	D	0.02	.	15.2946	0.73894	0.0:0.0:1.0:0.0	.	845	Q75N90	FBN3_HUMAN	A	845	ENSP00000270509:P845A	ENSP00000270509:P845A	P	-	1	0	FBN3	8097373	1.000000	0.71417	0.979000	0.43373	0.761000	0.43186	8.852000	0.92215	1.587000	0.49959	0.313000	0.20887	CCC		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		C	8191373	G	C	8191373	3	2	190	1	0	0	0	0	1	0	0	0	5704	1232	43	5	6076	5	FBN3	19	8191373	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		8191373	50937610	101	13452											
TNPO2	30000	broad.mit.edu	37	chr19	12825902	12825902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgagcctgtcaatccGcacttccagaagcatcacca	11	7	10	13	1	2	2	2	1	0	1	4	3	4	3	4	2	2	2	4	2	2	1	rs373758530		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:12825902G>A	ENST00000592287.1	-	8	838	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	TNPO2_ENST00000588216.1_Missense_Mutation_p.R244W|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.R244W|TNPO2_ENST00000356861.5_Missense_Mutation_p.R244W|TNPO2_ENST00000425528.1_Missense_Mutation_p.R244W|TNPO2_ENST00000441499.1_Missense_Mutation_p.R244W	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	244					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCAATCCGCACTTCCAGA	0.632																																						uc002mup.3																			0		p.R336C(1)|p.R336H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1006-1008)Cgg>Tgg		Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4298		0,0,2149	65	70	68		730,730,730	4.6	1	19		68	1,8507		0,1,4253	no	missense,missense,missense	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	101,101,101	0,1,6402	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging	244/888,244/898,244/888	12825902	1,12805	2149	4254	6403	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825902G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.730C>T	19.37:g.12825902G>A	ENSP00000468434:p.Arg244Trp					TNPO2_uc002muq.3_Missense_Mutation_p.R244W|TNPO2_uc002muo.3_Missense_Mutation_p.R244W|TNPO2_uc002mur.3_Missense_Mutation_p.R244W	p.R336W	NM_013433	NP_038461	O14787	TNPO2_HUMAN			6	1468	-			244					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1006C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492010	0.64074	0.0	1.18E-4	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.63	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.67382	0.476;0.951	D	0.87699	0.2559	10	0.87932	D	0	-17.4519	15.0242	0.71656	0.0:0.0:0.8567:0.1433	.	408;244	Q4LE60;O14787	.;TNPO2_HUMAN	W	408;244;244;244;244;244;244	ENSP00000407182:R244W;ENSP00000389648:R244W;ENSP00000397379:R244W;ENSP00000349321:R244W	ENSP00000349321:R244W	R	-	1	2	TNPO2	12686902	1.000000	0.71417	0.989000	0.46669	0.913000	0.54294	6.021000	0.70832	1.355000	0.45865	0.555000	0.69702	CGG		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		A	12825902	G	A	12825902	3	1	190	1	0	0	0	0	1	0	0	0	16333	1086	38	1	2031	1	TNPO2	19	12825902	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	4634529	12825902	46303081	102	13453											
ZNF17	7565	broad.mit.edu	37	chr19	57931383	57931383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggtggaagccacacAgggacactcatggtgtggag	11	6	16	8	0	1	0	1	0	0	0	1	3	1	3	1	5	1	0	1	5	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:57931383A>G	ENST00000601808.1	+	3	736	c.523A>G	c.(523-525)Agg>Ggg	p.R175G	ZNF17_ENST00000307658.7_Missense_Mutation_p.R177G|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAAGCCACACAGGGACACTCA	0.488																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qop.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(529-531)Agg>Ggg		Homo sapiens zinc finger protein 17 (ZNF17), mRNA.							94	99	98					19																	57931383		2178	4289	6467	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931383A>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.523A>G	19.37:g.57931383A>G	ENSP00000471905:p.Arg175Gly					ZNF17_uc021vck.1_Missense_Mutation_p.R168G|ZNF17_uc002qoo.1_Missense_Mutation_p.R175G	p.R177G	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	795	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	175					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.529A>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796460	0.31777	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.97	0.465	0.16711	.	.	.	.	.	T	0.19406	0.0466	N	0.25094	0.71	0.09310	N	1	P;B	0.35908	0.527;0.001	B;B	0.31390	0.129;0.003	T	0.12426	-1.0548	8	0.49607	T	0.09	.	4.5914	0.12307	0.7362:0.0:0.2638:0.0	.	177;175	P17021-2;P17021	.;ZNF17_HUMAN	G	175	.	ENSP00000302455:R175G	R	+	1	2	ZNF17	62623195	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	0.273000	0.18662	0.064000	0.16427	0.528000	0.53228	AGG		0.488	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		G	57931383	A	G	57931383	3	3	190	1	0	0	0	0	1	0	0	0	17740	179	7	4	533	4	ZNF17	19	57931383	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	45105481	57931383	1197600	103	13454											
ANGPT4	51378	broad.mit.edu	37	chr20	870858	870858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtcaccctctgttacctGagcctccatgtcggtcagct	6	12	8	15	1	4	1	3	1	1	0	6	1	5	1	4	1	3	2	4	1	1	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:870858G>A	ENST00000381922.3	-	2	565	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ANGPT4_ENST00000546022.1_Nonsense_Mutation_p.Q155*	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	155					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGTTACCTGAGCCTCCATG	0.607																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(463-465)Cag>Tag		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							93	79	84					20																	870858		2203	4300	6503	SO:0001587	stop_gained	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:870858G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.463C>T	20.37:g.870858G>A	ENSP00000371347:p.Gln155*					ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q149*	p.Q155*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			1	566	-			155					B4E3J9|Q5TFF4|Q9H4Z4	Nonsense_Mutation	SNP	ENST00000381922.3	37	c.463C>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	g	32	5.139167	0.94560	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	.	.	.	4.38	4.38	0.52667	.	0.579198	0.14097	N	0.341628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.494	0.67670	0.0:0.0:1.0:0.0	.	.	.	.	X	155	.	ENSP00000371347:Q155X	Q	-	1	0	ANGPT4	818858	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	3.442000	0.52900	2.257000	0.74773	0.450000	0.29827	CAG		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	870858	G	A	870858	4	1	190	1	0	0	0	0	0	1	0	0	612	1299	45	3	1080	3	ANGPT4	20	870858	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		870858	62154662	104	13455											
SIRPA	140885	broad.mit.edu	37	chr20	1915375	1915375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggttgcatgagcccgAgaagaatgccagagaaataa	15	9	11	6	1	0	4	0	1	0	3	0	6	0	4	2	1	3	2	2	1	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:1915375A>T	ENST00000358771.4	+	7	1393	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	SIRPA_ENST00000356025.3_Missense_Mutation_p.E414V|SIRPA_ENST00000400068.3_Missense_Mutation_p.E414V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	414					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATGAGCCCGAGAAGAATGCC	0.448																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.3																			0		p.E414*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1240-1242)gAg>gTg		Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.							161	139	146					20																	1915375		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1915375A>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1241A>T	20.37:g.1915375A>T	ENSP00000351621:p.Glu414Val					SIRPA_uc010zps.2_Missense_Mutation_p.E394V|SIRPA_uc002wfr.3_Missense_Mutation_p.E414V|SIRPA_uc002wfs.3_Missense_Mutation_p.E414V|SIRPA_uc002wft.3_Missense_Mutation_p.E414V	p.E414V	NM_001040022	NP_542970	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	7	1601	+			414					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1241A>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824687	0.71143	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.26810	1.71;1.71;1.71	4.43	4.43	0.53597	.	0.144057	0.31834	N	0.006984	T	0.36880	0.0983	L	0.32530	0.975	0.35912	D	0.831186	D;D;D	0.89917	0.973;1.0;0.993	P;D;P	0.87578	0.544;0.998;0.722	T	0.45160	-0.9280	10	0.56958	D	0.05	.	10.2443	0.43332	1.0:0.0:0.0:0.0	.	394;414;414	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	V	414	ENSP00000382941:E414V;ENSP00000348307:E414V;ENSP00000351621:E414V	ENSP00000348307:E414V	E	+	2	0	SIRPA	1863375	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.039000	0.64185	1.988000	0.58038	0.459000	0.35465	GAG		0.448	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		T	1915375	A	T	1915375	3	4	190	1	0	0	0	0	1	0	0	0	14332	304	11	5	1267	5	SIRPA	20	1915375	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	1044517	1915375	61110145	105	13456											
PTPRT	11122	broad.mit.edu	37	chr20	41385120	41385120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttcacgatcagctccgCgtagttggacacaccagacc	10	8	8	15	3	2	1	2	0	0	1	3	3	3	2	4	1	1	3	4	1	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:41385120C>T	ENST00000373187.1	-	6	840	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	PTPRT_ENST00000373190.1_Missense_Mutation_p.A281T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A281T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A281T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A281T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A281T|PTPRT_ENST00000373198.4_Missense_Mutation_p.A281T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	281	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGCTCCGCGTAGTTGGAC	0.567																																						uc002xkg.3																			0		p.A281V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(841-843)Gcg>Acg		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							58	58	58					20																	41385120		2147	4249	6396	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385120C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.841G>A	20.37:g.41385120C>T	ENSP00000362283:p.Ala281Thr					PTPRT_uc010ggj.3_Missense_Mutation_p.A281T	p.A281T	NM_007050	NP_008981	O14522	PTPRT_HUMAN			5	1025	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	281			Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.841G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715555	0.89112	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058072	0.64402	D	0.000002	T	0.61085	0.2319	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.947	T	0.62048	-0.6936	10	0.87932	D	0	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	281;281	O14522-1;O14522	.;PTPRT_HUMAN	T	281	ENSP00000362286:A281T;ENSP00000362283:A281T;ENSP00000362289:A281T;ENSP00000348408:A281T;ENSP00000362294:A281T;ENSP00000362280:A281T;ENSP00000362297:A281T	ENSP00000348408:A281T	A	-	1	0	PTPRT	40818534	1.000000	0.71417	0.397000	0.26308	0.568000	0.35870	7.487000	0.81328	2.720000	0.93068	0.655000	0.94253	GCG		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	41385120	C	T	41385120	3	4	190	1	0	0	0	0	1	0	0	0	12812	768	27	1	3649	1	PTPRT	20	41385120	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	39469745	41385120	21640400	106	13457											
MXRA5	25878	broad.mit.edu	37	chrX	3235331	3235331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcaccgtcctgcgcgCggagcctaccaggttggcgg	5	6	15	15	5	0	0	0	0	0	0	1	1	1	1	4	4	5	3	4	4	1	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:3235331C>T	ENST00000217939.6	-	6	6545	c.6391G>A	c.(6391-6393)Gcg>Acg	p.A2131T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2131	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTGCGCGCGGAGCCTACC	0.662																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6391-6393)Gcg>Acg		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							34	27	29					X																	3235331		2201	4299	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3235331C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6391G>A	X.37:g.3235331C>T	ENSP00000217939:p.Ala2131Thr						p.A2131T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6548	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2131			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6391G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	13.67	2.306364	0.40795	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68903	-0.36	3.48	2.55	0.30701	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	U	0.002485	T	0.72195	0.3430	L	0.42632	1.34	0.26804	N	0.969145	D	0.89917	1.0	D	0.81914	0.995	T	0.62671	-0.6805	10	0.37606	T	0.19	.	11.6221	0.51124	0.1781:0.8219:0.0:0.0	.	2131	Q9NR99	MXRA5_HUMAN	T	2131	ENSP00000217939:A2131T	ENSP00000217939:A2131T	A	-	1	0	MXRA5	3245331	0.896000	0.30565	0.972000	0.41901	0.148000	0.21650	1.677000	0.37576	1.354000	0.45846	0.597000	0.82753	GCG		0.662	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3235331	C	T	3235331	3	4	190	1	0	0	0	0	1	0	0	0	10003	768	27	1	2103	1	MXRA5	23	3235331	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		3235331	152035229	107	13458											
MAGEB6	158809	broad.mit.edu	37	chrX	26212996	26212996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataagtacgtggtttacCggcaggtgtgcaacagtgat	12	10	13	6	2	0	2	0	1	0	1	0	2	0	2	1	3	4	4	1	3	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:26212996C>T	ENST00000379034.1	+	2	1182	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	345	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R345W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498																																						uc022buc.1																			1	Substitution - Missense(1)	p.R345W(2)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1033-1035)Cgg>Tgg		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							93	92	92					X																	26212996		2201	4281	6482	SO:0001583	missense	158809							g.chrX:26212996C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1033C>T	X.37:g.26212996C>T	ENSP00000368320:p.Arg345Trp					MAGEB6_uc004dbr.3_Missense_Mutation_p.R345W	p.R345W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	1033	+			345			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1033C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	9.347	1.064495	0.20067	.	.	ENSG00000176746	ENST00000379034	T	0.06449	3.3	3.29	1.5	0.22942	.	0.845487	0.09939	U	0.736191	T	0.09512	0.0234	M	0.75777	2.31	0.09310	N	1	B	0.20052	0.041	B	0.22601	0.04	T	0.32587	-0.9901	10	0.62326	D	0.03	.	4.8155	0.13365	0.0:0.6982:0.0:0.3018	.	345	Q8N7X4	MAGB6_HUMAN	W	345	ENSP00000368320:R345W	ENSP00000368320:R345W	R	+	1	2	MAGEB6	26122917	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.419000	0.21247	0.269000	0.21961	0.594000	0.82650	CGG		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212996	C	T	26212996	3	4	190	1	0	0	0	0	1	0	0	0	9179	643	23	2	1035	2	MAGEB6	23	26212996	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	22977665	26212996	129057564	108	13459											
USP9X	8239	broad.mit.edu	37	chrX	41075579	41075579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaaatgaaaaaccagtGttttggtggagagtacatgg	15	9	13	4	1	0	3	0	1	0	2	0	5	0	3	1	3	2	2	1	3	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:41075579G>C	ENST00000324545.8	+	35	6392	c.5759G>C	c.(5758-5760)tGt>tCt	p.C1920S	USP9X_ENST00000378308.2_Missense_Mutation_p.C1920S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1920	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAAACCAGTGTTTTGGTGGA	0.388																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5758-5760)tGt>tCt		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							136	132	134					X																	41075579		2201	4299	6500	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075579G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5759G>C	X.37:g.41075579G>C	ENSP00000316357:p.Cys1920Ser					USP9X_uc004dfc.3_Missense_Mutation_p.C1920S	p.C1920S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			34	6392	+			1920					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5759G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248543	0.80024	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.27720	1.65;1.65	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.987	T	0.57271	-0.7840	10	0.62326	D	0.03	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1920;1920	Q93008-1;Q93008	.;USP9X_HUMAN	S	1920	ENSP00000367558:C1920S;ENSP00000316357:C1920S	ENSP00000316357:C1920S	C	+	2	0	USP9X	40960523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	TGT		0.388	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		C	41075579	G	C	41075579	3	2	190	1	0	0	0	0	1	0	0	0	17087	1377	48	5	5893	5	USP9X	23	41075579	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	14862583	41075579	114194981	109	13460											
SLC9A7	84679	broad.mit.edu	37	chrX	46491045	46491047	+	In_Frame_Del	DEL	GTT	GTT	-																															tgtaagacttgaaagctgtcGttgttgggtggtgggtcttg																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:46491045_46491047delGTT	ENST00000328306.4	-	14	1736_1738	c.1711_1713delAAC	c.(1711-1713)aacdel	p.N571del	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	571					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAAAGCTGTCGTTGTTGGGTGGT	0.483																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(1711-1713)aacdel		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.																																				SO:0001651	inframe_deletion	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46491045_46491047delGTT	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1711_1713delAAC	X.37:g.46491048_46491050delGTT	ENSP00000330320:p.Asn571del						p.N571del	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			13	1719_1721	-			571					O75827|Q5JXP9	In_Frame_Del	DEL	ENST00000328306.4	37	c.1711_1713delAAC	CCDS14269.1																																																																																				0.483	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		-	46491047	GTT	-	46491045	7	5	190	1	0	1	0	1	0	0	0	0	14719	1136	40	0	480	0	SLC9A7	23	46491045	In_Frame_Del	DEL	GTT	TCGA-27-1838-01A-01D-1494-08	5415466	46491045	108779515	110	13461											
SSX7	280658	broad.mit.edu	37	chrX	52677324	52677324	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttaccggatgtcttgttAatcttctcagaggtacttgg	7	16	9	9	1	4	1	1	0	4	1	5	2	4	2	1	3	2	2	1	3	3	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:52677324A>G	ENST00000298181.5	-	6	611	c.453T>C	c.(451-453)atT>atC	p.I151I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ATGTCTTGTTAATCTTCTCAG	0.512																																						uc004dqx.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(451-453)atT>atC		Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.							175	150	158					X																	52677324		2203	4300	6503	SO:0001819	synonymous_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52677324A>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.453T>C	X.37:g.52677324A>G							p.I151I	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			5	612	-	Ovarian(276;0.236)		151						Silent	SNP	ENST00000298181.5	37	c.453T>C	CCDS14343.1																																																																																				0.512	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		G	52677324	A	G	52677324	2	3	190	1	0	0	0	0	0	0	0	1	15208	358	13	4		4	SSX7	23	52677324	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	6186279	52677324	102593236	111	13462											
KIAA2022	340533	broad.mit.edu	37	chrX	73963402	73963402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaattgggcatcttcCtgcatcaaaagagtagtctt	12	13	9	7	0	3	2	1	1	2	1	4	2	4	2	1	1	1	4	1	1	5	5			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:73963402C>T	ENST00000055682.6	-	3	1601	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	330					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGCATCTTCCTGCATCAAAA	0.448																																						uc004eby.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(988-990)caG>caA		Homo sapiens KIAA2022 (KIAA2022), mRNA.							80	68	72					X																	73963402		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963402C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.990G>A	X.37:g.73963402C>T							p.Q330Q	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	1607	-			330					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.990G>A	CCDS35337.1																																																																																				0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73963402	C	T	73963402	2	4	190	1	0	0	0	0	0	0	0	1	8269	680	24	3		3	KIAA2022	23	73963402	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	21286078	73963402	81307158	112	13463											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-																															ctgaagaagaagatgaagagGaagaagaagaagaagatgaa																								rs374572591		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												uc010npv.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(640-642)gaadel		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	p.E218del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN			6	667_669	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.640_642delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		-	110406208	GAA	-	110406206	7	5	190	1	0	1	0	1	0	0	0	0	11402	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-27-1838-01A-01D-1494-08	36442804	110406206	44864354	113	13464											
KIAA1210	57481	broad.mit.edu	37	chrX	118220581	118220581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgttgcttatctgcaaCgtaagatattttggtgaggt	8	16	11	6	1	2	2	0	1	2	1	2	2	2	2	0	2	3	5	0	2	4	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:118220581C>T	ENST00000402510.2	-	11	4611	c.4612G>A	c.(4612-4614)Gtt>Att	p.V1538I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1538										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATCTGCAACGTAAGATATT	0.507																																						uc004era.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4612-4614)Gtt>Att		Homo sapiens KIAA1210 (KIAA1210), mRNA.							89	81	84					X																	118220581		1913	4109	6022	SO:0001583	missense	57481							g.chrX:118220581C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4612G>A	X.37:g.118220581C>T	ENSP00000384670:p.Val1538Ile						p.V1538I	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			10	4612	-			1538					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4612G>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.068|2.068	-0.413739|-0.413739	0.04799|0.04799	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.09723	.|2.95	4.95|4.95	-9.89|-9.89	0.00464|0.00464	.|.	.|.	.|.	.|.	.|.	T|T	0.05547|0.05547	0.0146|0.0146	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B	.|0.24675	.|0.109	.|B	.|0.09377	.|0.004	T|T	0.24835|0.24835	-1.0149|-1.0149	5|9	.|0.32370	.|T	.|0.25	.|.	0.9765|0.9765	0.01426|0.01426	0.1936:0.33:0.1558:0.3206|0.1936:0.33:0.1558:0.3206	.|.	.|1538	.|Q9ULL0	.|K1210_HUMAN	H|I	944|1538	.|ENSP00000384670:V1538I	.|ENSP00000384670:V1538I	R|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118104609|118104609	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.022000|-2.022000	0.01439|0.01439	-2.348000|-2.348000	0.00619|0.00619	-2.931000|-2.931000	0.00088|0.00088	CGT|GTT		0.507	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118220581	C	T	118220581	3	4	190	1	0	0	0	0	1	0	0	0	8214	536	19	1	533	1	KIAA1210	23	118220581	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	7814375	118220581	37049979	114	13465											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686304	125686304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcgaacaccttgttgacCgtgcccagctccagttggcg	7	8	12	14	4	0	1	0	1	0	0	1	3	1	1	4	1	3	3	4	1	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:125686304C>T	ENST00000371126.1	-	1	530	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	96										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCTTGTTGACCGTGCCCAGCT	0.657																																						uc022cds.1																			0		p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(286-288)acG>acA		Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.							94	72	80					X																	125686304		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686304C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.288G>A	X.37:g.125686304C>T						DCAF12L1_uc004eul.3_Silent_p.T96T	p.T96T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			0	288	-			96					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.288G>A	CCDS14610.1																																																																																				0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125686304	C	T	125686304	2	4	190	1	0	0	0	0	0	0	0	1	4264	639	23	2		2	DCAF12L1	23	125686304	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	7465723	125686304	29584256	115	13466											
USP26	83844	broad.mit.edu	37	chrX	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-																															tactcaagctcttctgctccAaaaaaaagatcaaaagtaga																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	uc011mvf.2																			3	Insertion - Frameshift(3)	p.F487fs*7(2)|p.G488fs*6(2)	central_nervous_system(3)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1459-1461)tttfs		Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.							122	123	122					X																	132160788		2203	4300	6503	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160788delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs					USP26_uc010nrm.1_Frame_Shift_Del_p.F487fs	p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			0	1513	-	Acute lymphoblastic leukemia(192;0.000127)		487					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1461delT	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		-	132160788	A	-	132160788	7	5	190	1	0	1	0	1	0	0	0	0	17054	127	5	0	1283	0	USP26	23	132160788	Frame_Shift_Del	DEL	A	TCGA-27-1838-01A-01D-1494-08	6474484	132160788	23109772	116	13467											
MAGEA10	4109	broad.mit.edu	37	chrX	151303934	151303934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggaggaggaGggaaaagaggatggaaaaga	19	1	21	0	0	0	3	0	0	0	3	0	12	0	11	0	8	0	0	0	8	5	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:151303934G>A	ENST00000370323.4	-	4	475	c.159C>T	c.(157-159)ccC>ccT	p.P53P	MAGEA10_ENST00000244096.3_Silent_p.P53P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	53						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggagggaaaagagg	0.562																																						uc022cgz.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(157-159)ccC>ccT		Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.							60	64	63					X																	151303934		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303934G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.159C>T	X.37:g.151303934G>A						MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.P53P|MAGEA10_uc004ffm.2_Silent_p.P53P|MAGEA10_uc004ffl.3_Silent_p.P53P	p.P53P	NM_021048	NP_066386	P43363	MAGAA_HUMAN			0	159	-	Acute lymphoblastic leukemia(192;6.56e-05)		53						Silent	SNP	ENST00000370323.4	37	c.159C>T	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		A	151303934	G	A	151303934	2	1	190	1	0	0	0	0	0	0	0	1	9164	987	35	3		3	MAGEA10	23	151303934	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	19143146	151303934	3966626	117	13468											
RENBP	5973	broad.mit.edu	37	chrX	153209567	153209567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacatacttgaggtcatCatacacccgcccctcgcggc	9	7	7	18	3	2	1	2	1	0	0	3	1	2	1	4	2	2	0	4	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:153209567C>A	ENST00000393700.3	-	3	258	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	RENBP_ENST00000369997.3_Intron|RENBP_ENST00000412763.1_Missense_Mutation_p.D60Y|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	60					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TTGAGGTCATCATACACCCGC	0.632																																						uc004fjo.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(178-180)Gat>Tat		Homo sapiens renin binding protein (RENBP), mRNA.	N-Acetyl-D-glucosamine(DB00141)						52	45	47					X																	153209567		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209567C>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.178G>T	X.37:g.153209567C>A	ENSP00000377303:p.Asp60Tyr					RENBP_uc011mzh.1_Missense_Mutation_p.D60Y	p.D60Y	NM_002910	NP_002901	P51606	RENBP_HUMAN			2	348	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		60					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.178G>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779821	0.16120	.	.	ENSG00000102032	ENST00000393700;ENST00000412763	T;T	0.36699	1.29;1.24	4.86	3.99	0.46301	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72613	-0.4240	10	0.87932	D	0	-24.4029	11.2683	0.49122	0.0:0.9063:0.0:0.0937	.	60;60	P51606-2;P51606	.;RENBP_HUMAN	Y	60	ENSP00000377303:D60Y;ENSP00000387811:D60Y	ENSP00000377303:D60Y	D	-	1	0	RENBP	152862761	1.000000	0.71417	0.026000	0.17262	0.140000	0.21249	4.947000	0.63583	0.831000	0.34780	0.513000	0.50165	GAT		0.632	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		A	153209567	C	A	153209567	3	1	190	1	0	0	0	0	1	0	0	0	13225	826	29	5	1141	5	RENBP	23	153209567	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	1905633	153209567	2060993	118	13469											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907821	12907821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagtccaagtcaaaagAggagccgtacatctccgctg	12	7	10	12	2	2	1	1	0	1	1	4	2	3	2	4	1	2	2	4	1	5	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:12907821A>T	ENST00000317869.6	-	2	547	c.322T>A	c.(322-324)Tct>Act	p.S108T		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	108						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AAGTCAAAAGAGGAGCCGTAC	0.493																																						uc010obf.2																			0											c.(322-324)Tct>Act		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							106	102	103					1																	12907821		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907821A>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.322T>A	1.37:g.12907821A>T	ENSP00000365370:p.Ser108Thr					LOC649330_uc009vno.2_Missense_Mutation_p.S108T	p.S108T	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	548	-			108					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.322T>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	13.73	2.323281	0.41096	.	.	ENSG00000179172	ENST00000317869	T	0.10763	2.84	1.09	1.09	0.20402	.	0.306916	0.25091	U	0.033219	T	0.09158	0.0226	L	0.61387	1.9	0.39101	D	0.961293	B	0.28998	0.23	B	0.26864	0.074	T	0.14282	-1.0478	10	0.23302	T	0.38	.	4.4071	0.11414	1.0:0.0:0.0:0.0	.	108	O60812	HNRCL_HUMAN	T	108	ENSP00000365370:S108T	ENSP00000365370:S108T	S	-	1	0	HNRNPCL1	12830408	1.000000	0.71417	0.963000	0.40424	0.057000	0.15508	0.927000	0.28818	0.759000	0.33084	0.341000	0.21757	TCT		0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		T	12907821	A	T	12907821	3	4	191	1	0	0	0	0	1	0	0	0	7263	304	11	5	561	5	HNRNPCL1	1	12907821	Missense_Mutation	SNP	A	TCGA-27-2518-01A-01D-1494-08		12907821	236342800	1	13470											
HPCAL4	51440	broad.mit.edu	37	chr1	40150150	40150150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaactcctccaggttgagGatgccgctggggcagtcctt	7	10	13	11	1	0	2	0	2	0	0	3	3	3	3	4	4	2	3	4	4	1	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:40150150G>A	ENST00000372844.3	-	2	517	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAGGTTGAGGATGCCGCTGG	0.627																																						uc001cdr.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(124-126)atC>atT		Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.							64	53	57					1																	40150150		2203	4300	6503	SO:0001819	synonymous_variant	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40150150G>A	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.126C>T	1.37:g.40150150G>A						HPCAL4_uc010oix.2_Silent_p.I42I	p.I42I	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	246	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	42			EF-hand 1.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Silent	SNP	ENST00000372844.3	37	c.126C>T	CCDS441.1																																																																																				0.627	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		A	40150150	G	A	40150150	2	1	191	1	0	0	0	0	0	0	0	1	7331	1164	41	3		3	HPCAL4	1	40150150	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	27242329	40150150	209100471	2	13471											
ELTD1	64123	broad.mit.edu	37	chr1	79383365	79383365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaactccaaataaagttgTtttcggtgctaagccaacat	15	12	6	8	1	0	0	0	0	0	0	2	0	1	0	2	1	4	3	2	1	7	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:79383365T>C	ENST00000370742.3	-	12	1766	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	568					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATAAAGTTGTTTTCGGTGCT	0.279																																						uc001diq.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1702-1704)aAc>aGc		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							59	56	57					1																	79383365		1804	4066	5870	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383365T>C	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1703A>G	1.37:g.79383365T>C	ENSP00000359778:p.Asn568Ser						p.N568S	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1859	-			568					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1703A>G	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163770	0.78226	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.41065	1.01;1.01	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.42581	1.335	0.80722	D	1	P	0.42908	0.793	P	0.53988	0.739	T	0.14615	-1.0466	9	.	.	.	.	16.0347	0.80617	0.0:0.0:0.0:1.0	.	568	Q9HBW9	ELTD1_HUMAN	S	568;26	ENSP00000359778:N568S;ENSP00000383813:N26S	.	N	-	2	0	ELTD1	79155953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.194000	0.70268	0.459000	0.35465	AAC		0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		C	79383365	T	C	79383365	3	2	191	1	0	0	0	0	1	0	0	0	5084	1725	60	4	385	4	ELTD1	1	79383365	Missense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	39233215	79383365	169867256	3	13472											
SLC26A9	115019	broad.mit.edu	37	chr1	205890886	205890886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggtgatataggacacGctggtgccgttagccggggt	8	9	16	8	3	0	2	0	2	0	0	0	3	0	3	2	5	2	2	2	5	4	3	rs375116397		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:205890886G>A	ENST00000367135.3	-	17	1976	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	SLC26A9_ENST00000367134.2_Silent_p.S621S|SLC26A9_ENST00000340781.4_Silent_p.S621S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	621	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TATAGGACACGCTGGTGCCGT	0.642																																						uc001hdp.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1861-1863)agC>agT		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.		G	,	1,4403		0,1,2201	112	88	96		1863,1863	-1	0.1	1		96	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	621/792,621/888	205890886	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205890886G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1863C>T	1.37:g.205890886G>A						SLC26A9_uc001hdo.3_Silent_p.S289S|SLC26A9_uc001hdq.3_Silent_p.S621S	p.S621S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		16	1977	-	Breast(84;0.201)		621			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1863C>T	CCDS30990.1																																																																																				0.642	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		A	205890886	G	A	205890886	2	1	191	1	0	0	0	0	0	0	0	1	14524	1078	38	1		1	SLC26A9	1	205890886	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	126507521	205890886	43359735	4	13473											
WDR64	128025	broad.mit.edu	37	chr1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaggtcatgttcaacGtgaaaaagtaagttagtact	15	10	12	4	1	2	1	2	1	0	0	2	3	2	2	0	2	2	4	0	2	7	4	rs185903348		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													G|||	1	0.000199681	0	0	5008	,	,		16167	0		0.001	False		,,,				2504	0					uc001hzg.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3154-3156)cGt>cAt		Homo sapiens WD repeat domain 64 (WDR64), mRNA.							82	79	80					1																	241959665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241959665G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3155G>A	1.37:g.241959665G>A	ENSP00000355510:p.Arg1052His					WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H	p.R1052H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		25	3362	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1052					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.3155G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		A	241959665	G	A	241959665	3	1	191	1	0	0	0	0	1	0	0	0	17312	1145	40	1	3257	1	WDR64	1	241959665	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	36068779	241959665	7290956	5	13474											
KLF11	8462	broad.mit.edu	37	chr2	10186413	10186413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagctcctggggtcaaaGatcccagaaaggtgacctgt	11	9	12	9	0	1	4	1	2	0	2	3	4	3	4	3	3	1	1	3	3	3	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:10186413G>T	ENST00000305883.1	+	2	341	c.179G>T	c.(178-180)aGa>aTa	p.R60I	KLF11_ENST00000535335.1_Missense_Mutation_p.R43I|KLF11_ENST00000540845.1_Missense_Mutation_p.R43I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	60					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGGGGTCAAAGATCCCAGAAA	0.537																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(178-180)aGa>aTa		Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.							104	98	100					2																	10186413		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10186413G>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.179G>T	2.37:g.10186413G>T	ENSP00000307023:p.Arg60Ile					KLF11_uc021vdq.1_Missense_Mutation_p.R43I|KLF11_uc010yjc.2_Missense_Mutation_p.R43I	p.R60I	NM_003597	NP_001171189	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	1	341	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		60					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.179G>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815148	0.90790	.	.	ENSG00000172059	ENST00000401510;ENST00000305883;ENST00000448523;ENST00000540845;ENST00000440320;ENST00000535335	T;T;T;T;T;T	0.66099	-0.15;2.42;-0.19;2.41;-0.15;2.41	5.4	5.4	0.78164	.	0.165409	0.53938	D	0.000041	T	0.80138	0.4568	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.82504	-0.0424	10	0.87932	D	0	.	19.1652	0.93553	0.0:0.0:1.0:0.0	.	60	O14901	KLF11_HUMAN	I	43;60;43;43;43;43	ENSP00000386058:R43I;ENSP00000307023:R60I;ENSP00000387866:R43I;ENSP00000444690:R43I;ENSP00000388263:R43I;ENSP00000442722:R43I	ENSP00000307023:R60I	R	+	2	0	KLF11	10103864	1.000000	0.71417	0.610000	0.28997	0.843000	0.47879	3.515000	0.53429	2.520000	0.84964	0.462000	0.41574	AGA		0.537	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		T	10186413	G	T	10186413	3	4	191	1	0	0	0	0	1	0	0	0	8339	942	33	5	185	5	KLF11	2	10186413	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		10186413	233012960	6	13475											
LAPTM4A	9741	broad.mit.edu	37	chr2	20240757	20240757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcagcaaaattgccaTcaataggtttactacctgga	14	10	7	10	0	2	0	2	0	0	0	2	1	2	1	2	2	4	2	2	2	6	5			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:20240757T>A	ENST00000175091.4	-	2	634	c.127A>T	c.(127-129)Atg>Ttg	p.M43L		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	43					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAATTGCCATCAATAGGTTT	0.378																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(127-129)Atg>Ttg		Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.							125	114	118					2																	20240757		2203	4300	6503	SO:0001583	missense	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20240757T>A	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"lysosomal-associated protein transmembrane 4 alpha"	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.127A>T	2.37:g.20240757T>A	ENSP00000175091:p.Met43Leu					LAPTM4A_uc010yjx.2_Missense_Mutation_p.M43L	p.M43L	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			1	635	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43					Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	c.127A>T	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097485	0.56075	.	.	ENSG00000068697	ENST00000175091	T	0.33216	1.42	5.99	4.86	0.63082	.	0.077351	0.85682	D	0.000000	T	0.22244	0.0536	L	0.46157	1.445	0.58432	D	0.999996	B;B	0.17268	0.017;0.021	B;B	0.18871	0.006;0.023	T	0.05801	-1.0863	10	0.07990	T	0.79	-19.2469	8.0574	0.30612	0.0:0.1176:0.0:0.8824	.	43;43	B4E2U6;Q15012	.;LAP4A_HUMAN	L	43	ENSP00000175091:M43L	ENSP00000175091:M43L	M	-	1	0	LAPTM4A	20104238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.814000	0.62627	2.291000	0.77112	0.533000	0.62120	ATG		0.378	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		A	20240757	T	A	20240757	3	1	191	1	0	0	0	0	1	0	0	0	8624	1435	50	5	598	5	LAPTM4A	2	20240757	Missense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	10054344	20240757	222958616	7	13476											
PROM2	150696	broad.mit.edu	37	chr2	95947041	95947041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctcatcctcctggtgttCgccaccttcctggtgggtgg	2	12	11	16	1	1	0	1	0	0	0	5	0	4	0	7	4	0	1	7	4	0	2	rs537874801	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:95947041C>T	ENST00000317620.9	+	12	1612	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	PROM2_ENST00000317668.4_Silent_p.F493F|PROM2_ENST00000403131.2_Silent_p.F493F|PROM2_ENST00000542147.1_Silent_p.F493F	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	493					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGGTGTTCGCCACCTTCC	0.642													C|||	2	0.000399361	0	0	5008	,	,		15758	0		0	False		,,,				2504	0.002					uc002suk.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1477-1479)ttC>ttT		Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.							90	84	86					2																	95947041		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947041C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1479C>T	2.37:g.95947041C>T						PROM2_uc002suh.2_Silent_p.F493F|PROM2_uc002sui.3_Silent_p.F493F|PROM2_uc002suj.3_Silent_p.F147F|PROM2_uc002sul.3_Silent_p.F19F|PROM2_uc002sum.3_Non-coding_Transcript	p.F493F	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN			11	1612	+			493					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1479C>T	CCDS2012.1																																																																																				0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		T	95947041	C	T	95947041	2	4	191	1	0	0	0	0	0	0	0	1	12556	883	31	2		2	PROM2	2	95947041	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	75706284	95947041	147252332	8	13477											
DPP10	57628	broad.mit.edu	37	chr2	116534868	116534868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatacgatgaaactactCaaaaaatgtgagtgttttca	15	12	8	6	1	2	2	2	2	0	0	2	3	2	2	0	1	3	2	0	1	6	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:116534868C>A	ENST00000410059.1	+	14	1786	c.1306C>A	c.(1306-1308)Caa>Aaa	p.Q436K	DPP10_ENST00000310323.8_Missense_Mutation_p.Q429K|DPP10_ENST00000393147.2_Missense_Mutation_p.Q440K|DPP10_ENST00000409163.1_Missense_Mutation_p.Q386K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	436						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAAACTACTCAAAAAATGTG	0.378																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1318-1320)Caa>Aaa		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							104	99	101					2																	116534868		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534868C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1306C>A	2.37:g.116534868C>A	ENSP00000386565:p.Gln436Lys					DPP10_uc002tla.2_Missense_Mutation_p.Q436K|DPP10_uc002tlb.2_Missense_Mutation_p.Q386K|DPP10_uc002tlc.2_Missense_Mutation_p.Q432K|DPP10_uc002tlf.2_Missense_Mutation_p.Q429K	p.Q440K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			13	1339	+			436					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1318C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969876	0.34754	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.97	3.07	0.35406	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.312050	0.35466	N	0.003198	T	0.27967	0.0689	L	0.39245	1.2	0.34465	D	0.70222	B;P;B;B	0.44090	0.059;0.826;0.157;0.073	B;P;B;B	0.47603	0.039;0.551;0.065;0.065	T	0.42258	-0.9462	10	0.62326	D	0.03	-34.1834	11.769	0.51947	0.3193:0.6807:0.0:0.0	.	429;440;432;436	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	K	436;386;440;429;386	ENSP00000386565:Q436K;ENSP00000387038:Q386K;ENSP00000376855:Q440K;ENSP00000309066:Q429K	ENSP00000309066:Q429K	Q	+	1	0	DPP10	116251338	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	2.229000	0.42990	0.716000	0.32124	0.655000	0.94253	CAA		0.378	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116534868	C	A	116534868	3	1	191	1	0	0	0	0	1	0	0	0	4727	827	29	5	1531	5	DPP10	2	116534868	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	20587827	116534868	126664505	9	13478											
SCN2A	6326	broad.mit.edu	37	chr2	166179852	166179852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcacagacatggagaaCggcgccacagcaatgtcagc	12	4	12	13	3	1	2	1	0	0	2	1	3	1	2	2	2	4	2	2	2	2	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:166179852C>T	ENST00000375437.2	+	12	2148	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	SCN2A_ENST00000357398.3_Missense_Mutation_p.R620W|SCN2A_ENST00000375427.2_Missense_Mutation_p.R620W|SCN2A_ENST00000283256.6_Missense_Mutation_p.R620W	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	620					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGGAGAACGGCGCCACAG	0.562																																						uc002udc.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1858-1860)Cgg>Tgg		Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	Lamotrigine(DB00555)						62	53	56					2																	166179852		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166179852C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1858C>T	2.37:g.166179852C>T	ENSP00000364586:p.Arg620Trp					SCN2A_uc002udd.3_Missense_Mutation_p.R620W|SCN2A_uc002ude.3_Missense_Mutation_p.R620W	p.R620W	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN			11	2148	+			620					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1858C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666023	0.67700	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.64	2.58	0.30949	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000020	D	0.97133	0.9063	M	0.91717	3.235	0.48762	D	0.999707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.939;0.999	D	0.97749	1.0213	10	0.72032	D	0.01	.	15.445	0.75223	0.5146:0.4854:0.0:0.0	.	620;620	Q99250-2;Q99250	.;SCN2A_HUMAN	W	620	ENSP00000364586:R620W;ENSP00000349973:R620W;ENSP00000283256:R620W;ENSP00000364576:R620W	ENSP00000283256:R620W	R	+	1	2	SCN2A	165888098	0.995000	0.38212	0.995000	0.50966	0.914000	0.54420	0.708000	0.25719	0.679000	0.31345	-0.202000	0.12741	CGG		0.562	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166179852	C	T	166179852	3	4	191	1	0	0	0	0	1	0	0	0	13916	527	19	1	1996	1	SCN2A	2	166179852	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	49644984	166179852	77019521	10	13479											
SPEG	10290	broad.mit.edu	37	chr2	220329174	220329174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagaaaccgccagcccGtgcgcccagaccagcggcgc	8	2	14	17	5	0	2	0	1	0	2	0	3	0	2	5	2	4	1	5	2	1	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:220329174G>A	ENST00000312358.7	+	9	2857	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	SPEG_ENST00000396689.2_Missense_Mutation_p.V60M|SPEG_ENST00000396698.1_Missense_Mutation_p.V805M|SPEG_ENST00000396695.2_Missense_Mutation_p.V117M|SPEG_ENST00000396688.1_Missense_Mutation_p.V60M|SPEG_ENST00000396686.1_Missense_Mutation_p.V60M|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	909	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGCCAGCCCGTGCGCCCAGA	0.662																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2725-2727)Gtg>Atg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							54	62	59					2																	220329174		2060	4192	6252	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220329174G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2725G>A	2.37:g.220329174G>A	ENSP00000311684:p.Val909Met					SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.V117M|SPEG_uc002vln.1_Missense_Mutation_p.V117M|SPEG_uc002vlp.1_Missense_Mutation_p.V117M|SPEG_uc002vlq.3_Missense_Mutation_p.V60M	p.V909M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	8	2725	+		Renal(207;0.0183)	909			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2725G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456099	0.84209	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36134	N	0.002780	T	0.78078	0.4227	L	0.50993	1.605	0.47441	D	0.999425	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.988;0.999	T	0.80289	-0.1445	10	0.87932	D	0	.	16.3019	0.82825	0.0:0.0:1.0:0.0	.	909;117;805	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	M	909;909;805;117;60;60;60	ENSP00000311684:V909M;ENSP00000379926:V805M;ENSP00000379923:V117M;ENSP00000379919:V60M;ENSP00000379917:V60M;ENSP00000379920:V60M	ENSP00000265327:V909M	V	+	1	0	SPEG	220037418	1.000000	0.71417	0.976000	0.42696	0.915000	0.54546	5.374000	0.66167	2.381000	0.81170	0.561000	0.74099	GTG		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220329174	G	A	220329174	3	1	191	1	0	0	0	0	1	0	0	0	15035	1145	40	1	2759	1	SPEG	2	220329174	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	54149322	220329174	22870199	11	13480											
SPHKAP	80309	broad.mit.edu	37	chr2	228856023	228856023	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcctttaagaatctTcttttcttctactaattcac	9	19	3	10	0	5	2	1	1	4	1	6	2	6	2	1	0	1	0	1	0	4	9			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:228856023T>A	ENST00000392056.3	-	10	4787	c.4741A>T	c.(4741-4743)Aag>Tag	p.K1581*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.K1552*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1581						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTAAGAATCTTCTTTTCTTCT	0.403																																						uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4741-4743)Aag>Tag		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							163	159	160					2																	228856023		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228856023T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4741A>T	2.37:g.228856023T>A	ENSP00000375909:p.Lys1581*					SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	p.K1581*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	9	4788	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1581					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.4741A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	44	10.899752	0.99485	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	6.04	6.04	0.98038	.	0.415525	0.26474	N	0.024163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.002	0.58681	0.0:0.9262:0.0:0.0737	.	.	.	.	X	1581;1552	.	ENSP00000339886:K1552X	K	-	1	0	SPHKAP	228564267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.948000	0.29096	1.586000	0.49944	-0.213000	0.12676	AAG		0.403	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228856023	T	A	228856023	4	1	191	1	0	0	0	0	0	1	0	0	15047	1792	62	5	373	5	SPHKAP	2	228856023	Nonsense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	8526849	228856023	14343350	12	13481											
IL5RA	3568	broad.mit.edu	37	chr3	3139660	3139660	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccctttgctgaggataaaAgtcctgggaaaccagcatgc	11	8	11	11	1	0	1	0	1	0	0	1	3	1	3	3	2	4	2	3	2	3	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:3139660A>C	ENST00000446632.2	-	7	1177	c.603T>G	c.(601-603)acT>acG	p.T201T	IL5RA_ENST00000430514.2_Silent_p.T201T|IL5RA_ENST00000418488.2_Silent_p.T201T|IL5RA_ENST00000456302.1_Silent_p.T201T|IL5RA_ENST00000256452.3_Silent_p.T201T|IL5RA_ENST00000438560.1_Silent_p.T201T|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Silent_p.T201T|IL5RA_ENST00000311981.8_Silent_p.T201T	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	201					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGAGGATAAAAGTCCTGGGAA	0.493																																					GBM(169;430 2801 24955 28528)	uc011ask.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(601-603)acT>acG		Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.							149	127	135					3																	3139660		2203	4300	6503	SO:0001819	synonymous_variant	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139660A>C	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.603T>G	3.37:g.3139660A>C						IL5RA_uc010hbq.3_Silent_p.T201T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.T201T|IL5RA_uc011asl.2_Silent_p.T201T|IL5RA_uc011asm.1_Silent_p.T201T|IL5RA_uc010hbt.2_Silent_p.T201T|IL5RA_uc011asn.1_Silent_p.T201T|IL5RA_uc010hbu.2_Silent_p.T201T	p.T201T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	7	1247	-			201					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	c.603T>G	CCDS2559.1																																																																																				0.493	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			C	3139660	A	C	3139660	2	2	191	1	0	0	0	0	0	0	0	1	7700	59	3	5		5	IL5RA	3	3139660	Silent	SNP	A	TCGA-27-2518-01A-01D-1494-08		3139660	194882770	13	13482											
FAM19A1	407738	broad.mit.edu	37	chr3	68466552	68466552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggaacaacaagaaacCggccttcttgcgtcgatggt	10	9	12	10	3	1	1	0	0	1	1	2	3	1	2	2	4	4	1	2	4	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:68466552C>T	ENST00000478136.1	+	3	731	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	FAM19A1_ENST00000496687.1_Missense_Mutation_p.R81W|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	81						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AACAAGAAACCGGCCTTCTTG	0.418																																						uc003dnd.3																			0		p.R81Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7						c.(241-243)Cgg>Tgg		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.							146	147	147					3																	68466552		1903	4118	6021	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68466552C>T	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.241C>T	3.37:g.68466552C>T	ENSP00000418575:p.Arg81Trp					FAM19A1_uc003dne.3_Missense_Mutation_p.R81W|FAM19A1_uc003dng.3_Missense_Mutation_p.R81W	p.R81W	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	2	457	+		Lung NSC(201;0.0117)	81					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.241C>T	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576237	0.45902	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	-1.67	0.08238	.	0.112355	0.64402	D	0.000019	T	0.58878	0.2153	L	0.47190	1.495	0.29526	N	0.853169	D	0.76494	0.999	D	0.65684	0.937	T	0.66909	-0.5804	9	0.87932	D	0	.	19.0729	0.93147	0.8227:0.1773:0.0:0.0	.	81	Q7Z5A9	F19A1_HUMAN	W	81	.	ENSP00000418575:R81W	R	+	1	2	FAM19A1	68549242	1.000000	0.71417	0.914000	0.36105	0.164000	0.22412	1.842000	0.39250	-0.192000	0.10432	-0.282000	0.10007	CGG		0.418	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		T	68466552	C	T	68466552	3	4	191	1	0	0	0	0	1	0	0	0	5531	643	23	2	247	2	FAM19A1	3	68466552	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	65326892	68466552	129555878	14	13483											
HPS3	84343	broad.mit.edu	37	chr3	148868422	148868422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgtgcggtgcagtgcGgcggcagctcgtgaggagga	6	8	18	9	4	1	1	1	1	0	0	2	3	1	3	0	5	4	3	0	5	0	1	rs377368442		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148868422G>A	ENST00000296051.2	+	6	1340	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	HPS3_ENST00000460120.1_Silent_p.A235A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	400					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTGCAGTGCGGCGGCAGCTC	0.532									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1198-1200)gcG>gcA		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							127	112	117					3																	148868422		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868422G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1200G>A	3.37:g.148868422G>A						HPS3_uc011bnq.1_Silent_p.A235A|HPS3_uc021xfk.1_Silent_p.A293A	p.A400A	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1340	+			400					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.1200G>A	CCDS3140.1																																																																																				0.532	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		A	148868422	G	A	148868422	2	1	191	1	0	0	0	0	0	0	0	1	7340	1103	39	2		2	HPS3	3	148868422	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	80401870	148868422	49154008	15	13484											
CP	1356	broad.mit.edu	37	chr3	148925268	148925268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaatacggtagttcttGttagtcagtgcttgcccgtg	6	15	12	8	2	3	0	2	0	1	0	3	0	3	0	1	1	3	4	1	1	4	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148925268G>T	ENST00000264613.6	-	5	1180	c.918C>A	c.(916-918)aaC>aaA	p.N306K		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	306	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGTAGTTCTTGTTAGTCAGTG	0.458																																						uc003ewy.4																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(916-918)aaC>aaA		Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	Drotrecogin alfa(DB00055)						142	125	131					3																	148925268		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925268G>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.918C>A	3.37:g.148925268G>T	ENSP00000264613:p.Asn306Lys					CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N87K|CP_uc003ewz.3_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	p.N306K	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		4	1171	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	306			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.918C>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	0.789	-0.759466	0.03019	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82255	-1.59;-1.59	5.82	0.613	0.17597	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.444505	0.27986	N	0.017050	T	0.73321	0.3572	N	0.19112	0.55	0.21220	N	0.999754	P;P;P;P	0.36837	0.571;0.571;0.571;0.549	B;P;B;B	0.45660	0.368;0.489;0.368;0.368	T	0.63422	-0.6641	10	0.27082	T	0.32	-12.3054	8.683	0.34221	0.2152:0.0:0.6538:0.131	.	306;306;306;306	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	K	306;89	ENSP00000264613:N306K;ENSP00000420545:N89K	ENSP00000264613:N306K	N	-	3	2	CP	150407958	0.854000	0.29725	0.389000	0.26208	0.309000	0.27889	-0.012000	0.12699	0.288000	0.22398	0.555000	0.69702	AAC		0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		T	148925268	G	T	148925268	3	4	191	1	0	0	0	0	1	0	0	0	3787	1368	48	5	2339	5	CP	3	148925268	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	56846	148925268	49097162	16	13485											
SAMD7	344658	broad.mit.edu	37	chr3	169654200	169654200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcatcttcgaggcactatggGattaaagctagggccggcac	10	8	13	10	2	1	0	0	0	1	0	2	2	1	1	1	4	1	4	1	4	4	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:169654200G>C	ENST00000428432.2	+	8	1504	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Missense_Mutation_p.G372A	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	372	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCACTATGGGATTAAAGCTA	0.343																																						uc003fgd.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1114-1116)gGa>gCa		Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.							85	86	85					3																	169654200		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169654200G>C	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1115G>C	3.37:g.169654200G>C	ENSP00000391299:p.Gly372Ala					SAMD7_uc003fge.3_Missense_Mutation_p.G372A|SAMD7_uc011bpo.2_Missense_Mutation_p.G273A	p.G372A	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1382	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		372			SAM.			Missense_Mutation	SNP	ENST00000428432.2	37	c.1115G>C	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119019	0.77323	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.63417	-0.04;-0.04	5.34	5.34	0.76211	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87986	0.2746	10	0.66056	D	0.02	-21.7717	18.6326	0.91366	0.0:0.0:1.0:0.0	.	372	Q7Z3H4	SAMD7_HUMAN	A	372	ENSP00000391299:G372A;ENSP00000334668:G372A	ENSP00000334668:G372A	G	+	2	0	SAMD7	171136894	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.001000	0.93568	2.512000	0.84698	0.491000	0.48974	GGA		0.343	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		C	169654200	G	C	169654200	3	2	191	1	0	0	0	0	1	0	0	0	13824	1174	41	5	1137	5	SAMD7	3	169654200	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	20728932	169654200	28368230	17	13486											
PCDHB12	56124	broad.mit.edu	37	chr5	140589502	140589502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaggtgatggatgtaaaCgacaacgctcctgaaatcac	14	9	9	9	2	2	2	2	2	0	0	3	4	3	3	1	2	2	2	1	2	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:140589502C>T	ENST00000239450.2	+	1	1212	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	PCDHB12_ENST00000541609.1_Silent_p.N4N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTAAACGACAACGCTC	0.413																																						uc003liz.3																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1021-1023)aaC>aaT		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							85	84	85					5																	140589502		2202	4300	6502	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589502C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1023C>T	5.37:g.140589502C>T						PCDHB12_uc011dak.2_Silent_p.N4N	p.N341N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1212	+			341			Cadherin 3.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1023C>T	CCDS4254.1																																																																																				0.413	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140589502	C	T	140589502	2	4	191	1	0	0	0	0	0	0	0	1	11537	535	19	1		1	PCDHB12	5	140589502	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		140589502	40325758	18	13487											
GFPT2	9945	broad.mit.edu	37	chr5	179731784	179731784	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctcacctggcgggccgtGacttgctgcagggcgttctg	3	9	15	14	3	2	1	1	1	1	0	2	1	2	1	3	3	2	3	3	3	0	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731784G>A	ENST00000253778.8	-	17	1999	c.1830C>T	c.(1828-1830)gtC>gtT	p.V610V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	610	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGCGGGCCGTGACTTGCTGCA	0.592																																						uc003mlw.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1828-1830)gtC>gtT		Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	L-Glutamine(DB00130)						133	149	144					5																	179731784		2064	4206	6270	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731784G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1830C>T	5.37:g.179731784G>A							p.V610V	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	1928	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	610			SIS 2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1830C>T	CCDS43411.1																																																																																				0.592	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		A	179731784	G	A	179731784	2	1	191	1	0	0	0	0	0	0	0	1	6346	1277	45	3		3	GFPT2	5	179731784	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	39142282	179731784	1183476	19	13488											
GFPT2	9945	broad.mit.edu	37	chr5	179731922	179731922	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccttctgagtgcatgtaGgttatctctttaattttctg	7	19	8	7	0	3	1	0	1	3	0	4	1	3	1	1	1	2	3	1	1	3	7			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731922G>C	ENST00000253778.8	-	17	1861	c.1692C>G	c.(1690-1692)acC>acG	p.T564T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	564	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGTGCATGTAGGTTATCTCTT	0.537																																						uc003mlw.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1690-1692)acC>acG		Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	L-Glutamine(DB00130)						112	117	115					5																	179731922		2027	4192	6219	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731922G>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1692C>G	5.37:g.179731922G>C							p.T564T	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	1790	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	564			SIS 2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1692C>G	CCDS43411.1																																																																																				0.537	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		C	179731922	G	C	179731922	2	2	191	1	0	0	0	0	0	0	0	1	6346	987	35	5		5	GFPT2	5	179731922	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	138	179731922	1183338	20	13489											
VARS2	57176	broad.mit.edu	37	chr6	30883807	30883807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtccctggttcagatcatGcaggaattgctacacaagta	11	10	11	9	0	2	1	2	0	0	1	3	2	3	2	1	3	3	4	1	3	4	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr6:30883807G>T	ENST00000321897.5	+	5	1188	c.556G>T	c.(556-558)Gca>Tca	p.A186S	VARS2_ENST00000542001.1_Missense_Mutation_p.A46S|VARS2_ENST00000541562.1_Missense_Mutation_p.A216S|VARS2_ENST00000416670.2_Missense_Mutation_p.A186S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	186					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCAGATCATGCAGGAATTGC	0.478																																						uc011dmz.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(646-648)Gca>Tca		Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.							264	240	248					6																	30883807		2203	4300	6503	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30883807G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.556G>T	6.37:g.30883807G>T	ENSP00000316092:p.Ala186Ser					VARS2_uc003nsc.2_Missense_Mutation_p.A186S|VARS2_uc003nsd.3_Missense_Mutation_p.A186S|VARS2_uc011dmx.2_Missense_Mutation_p.A186S|VARS2_uc011dmy.2_Missense_Mutation_p.A46S|VARS2_uc011dna.2_Missense_Mutation_p.A186S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	p.A216S	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN			5	727	+			186					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.646G>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979768	0.74360	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000413959;ENST00000541562	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	4.5	4.5	0.54988	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.90977	3.165	0.51482	D	0.999929	D;D;D	0.89917	0.995;0.994;1.0	D;D;D	0.79108	0.984;0.935;0.992	T	0.64002	-0.6509	10	0.87932	D	0	-11.292	14.7692	0.69662	0.0:0.0:1.0:0.0	.	186;216;186	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	S	186;186;46;186;186;216	ENSP00000316092:A186S;ENSP00000394802:A186S;ENSP00000438200:A46S;ENSP00000403749:A186S;ENSP00000441000:A216S	ENSP00000316092:A186S	A	+	1	0	VARS2	30991786	1.000000	0.71417	0.993000	0.49108	0.599000	0.36880	6.497000	0.73674	2.343000	0.79666	0.655000	0.94253	GCA		0.478	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		T	30883807	G	T	30883807	3	4	191	1	0	0	0	0	1	0	0	0	17121	1319	46	5	668	5	VARS2	6	30883807	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		30883807	140231260	21	13490											
CLCN1	1180	broad.mit.edu	37	chr7	143047569	143047569	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagacaaccctgcacaaGgtgagtcttttgctgactgc	10	9	11	11	0	1	3	0	2	1	1	1	4	1	3	1	1	5	3	1	1	2	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr7:143047569G>C	ENST00000343257.2	+	21	2595	c.2508G>C	c.(2506-2508)aaG>aaC	p.K836N		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	836	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGCACAAGGTGAGTCTTT	0.567																																						uc003wcr.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.e21+1		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							151	117	129					7																	143047569		2203	4300	6503	SO:0001630	splice_region_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143047569G>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2508+1G>C	7.37:g.143047569G>C						CLCN1_uc011ktc.1_Splice_Site_p.K448_splice	p.K836_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN			21	2595	+	Melanoma(164;0.205)		836			CBS 2.		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2508_splice	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743681	0.49151	.	.	ENSG00000188037	ENST00000343257	D	0.88664	-2.41	4.52	2.54	0.30619	Cystathionine beta-synthase, core (1);	0.173952	0.49916	D	0.000132	D	0.91030	0.7178	M	0.92970	3.365	0.48395	D	0.999644	B;P	0.48640	0.433;0.913	B;B	0.43575	0.394;0.424	D	0.91980	0.5594	10	0.87932	D	0	.	11.2954	0.49276	0.1761:0.0:0.8239:0.0	.	35;836	Q75L28;P35523	.;CLCN1_HUMAN	N	836	ENSP00000339867:K836N	ENSP00000339867:K836N	K	+	3	2	CLCN1	142757691	1.000000	0.71417	0.994000	0.49952	0.848000	0.48234	5.774000	0.68906	1.141000	0.42275	0.462000	0.41574	AAG		0.567	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	Missense_Mutation	C	143047569	G	C	143047569	5	2	191	1	0	0	0	0	0	0	1	0	3462	1014	35	5	2590	5	CLCN1	7	143047569	Splice_Site	SNP	G	TCGA-27-2518-01A-01D-1494-08		143047569	16091094	22	13491											
WHSC1L1	54904	broad.mit.edu	37	chr8	38148069	38148069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacataagggaacactctGccctggtgtacccagtagta	12	9	9	11	0	2	0	1	0	1	0	2	1	2	1	2	2	4	3	2	2	6	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:38148069G>A	ENST00000317025.8	-	17	3559	c.3042C>T	c.(3040-3042)ggC>ggT	p.G1014G	WHSC1L1_ENST00000433384.2_Silent_p.G965G|WHSC1L1_ENST00000527502.1_Silent_p.G1014G	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1014	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGAACACTCTGCCCTGGTGTA	0.463			T	NUP98	AML																																	uc003xli.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3040-3042)ggC>ggT		Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.							181	171	174					8																	38148069		1898	4114	6012	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38148069G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3042C>T	8.37:g.38148069G>A						WHSC1L1_uc011lbm.2_Silent_p.G1014G|WHSC1L1_uc010lwe.3_Silent_p.G965G	p.G1014G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		16	3560	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1014			PWWP 2.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.3042C>T	CCDS43729.1																																																																																				0.463	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		A	38148069	G	A	38148069	2	1	191	1	0	0	0	0	0	0	0	1	17360	1306	46	3		3	WHSC1L1	8	38148069	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08		38148069	108215953	23	13492											
JPH1	56704	broad.mit.edu	37	chr8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgagcggccagcgCggcctggtcggcggcatcgg	3	5	18	15	7	0	0	0	0	0	0	3	1	1	0	3	7	2	1	3	7	0	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:75171695C>T	ENST00000342232.4	-	3	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597																																						uc003yae.3																			1	Substitution - Missense(1)	p.A395T(2)	ovary(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1183-1185)Gcg>Acg		Homo sapiens junctophilin 1 (JPH1), mRNA.							31	33	32					8																	75171695		2202	4299	6501	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171695C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1183G>A	8.37:g.75171695C>T	ENSP00000344488:p.Ala395Thr					JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	p.A395T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1223	-	Breast(64;0.00576)		395			Ala-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1183G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489664	0.64074	.	.	ENSG00000104369	ENST00000342232	T	0.77877	-1.13	5.1	5.1	0.69264	.	0.055496	0.64402	D	0.000001	T	0.76870	0.4048	M	0.84219	2.685	0.43080	D	0.994732	P	0.52842	0.956	B	0.39299	0.296	T	0.81908	-0.0717	10	0.72032	D	0.01	.	11.2516	0.49028	0.0:0.9151:0.0:0.0849	.	395	Q9HDC5	JPH1_HUMAN	T	395	ENSP00000344488:A395T	ENSP00000344488:A395T	A	-	1	0	JPH1	75334249	1.000000	0.71417	0.753000	0.31225	0.446000	0.32137	3.617000	0.54181	2.809000	0.96659	0.655000	0.94253	GCG		0.597	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			T	75171695	C	T	75171695	3	4	191	1	0	0	0	0	1	0	0	0	7960	768	27	1	814	1	JPH1	8	75171695	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	37023626	75171695	71192327	24	13493											
RALYL	138046	broad.mit.edu	37	chr8	85774546	85774546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggttatttgattaccaCgggcgtgtgcctccacctcc	8	12	9	12	2	0	1	0	1	0	0	2	1	2	1	5	2	2	1	5	2	4	4	rs375364868		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:85774546C>T	ENST00000521268.1	+	6	1534	c.429C>T	c.(427-429)caC>caT	p.H143H	RALYL_ENST00000522455.1_Silent_p.H143H|RALYL_ENST00000523850.1_Silent_p.H70H|RALYL_ENST00000517638.1_Silent_p.H156H|RALYL_ENST00000521376.1_Silent_p.H54H|RALYL_ENST00000521695.1_Silent_p.H143H|RALYL_ENST00000518566.1_Silent_p.H132H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	143							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGATTACCACGGGCGTGTGC	0.483																																						uc003yct.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(466-468)caC>caT		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.		C	,,,	0,3752		0,0,1876	45	46	46		468,429,429,429	-7.4	0.3	8		46	1,8227		0,1,4113	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RALYL	NM_001100391.1,NM_001100392.1,NM_001100393.1,NM_173848.5	,,,	0,1,5989	TT,TC,CC		0.0122,0.0,0.0083	,,,	156/305,143/292,143/292,143/292	85774546	1,11979	1876	4114	5990	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774546C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.429C>T	8.37:g.85774546C>T						RALYL_uc003ycq.4_Silent_p.H143H|RALYL_uc003ycr.4_Silent_p.H143H|RALYL_uc003ycs.4_Silent_p.H143H|RALYL_uc010lzy.3_Silent_p.H132H|RALYL_uc003ycu.4_Silent_p.H70H	p.H156H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN			5	602	+			143					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.468C>T	CCDS55253.1																																																																																				0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			T	85774546	C	T	85774546	2	4	191	1	0	0	0	0	0	0	0	1	13020	535	19	1		1	RALYL	8	85774546	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	10602851	85774546	60589476	25	13494											
CORO2A	7464	broad.mit.edu	37	chr9	100897128	100897128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggatgttggcggccGtggggtgccactccaccagg	7	7	17	10	2	0	2	0	1	0	1	1	3	1	3	4	6	1	1	4	6	1	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr9:100897128G>A	ENST00000343933.5	-	4	685	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CORO2A_ENST00000375077.4_Missense_Mutation_p.T143M	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	143					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTGGCGGCCGTGGGGTGCCA	0.587																																						uc004aym.3																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(427-429)aCg>aTg		Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.							57	52	54					9																	100897128		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897128G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.428C>T	9.37:g.100897128G>A	ENSP00000343746:p.Thr143Met					CORO2A_uc004ayl.3_Missense_Mutation_p.T143M	p.T143M	NM_052820	NP_438171	Q92828	COR2A_HUMAN			3	544	-		Acute lymphoblastic leukemia(62;0.0559)	143					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.428C>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042082	0.93685	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.60672	0.17;0.17	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78455	-0.2197	10	0.87932	D	0	-18.148	18.3764	0.90437	0.0:0.0:1.0:0.0	.	143	Q92828	COR2A_HUMAN	M	143	ENSP00000343746:T143M;ENSP00000364218:T143M	ENSP00000343746:T143M	T	-	2	0	CORO2A	99936949	1.000000	0.71417	0.974000	0.42286	0.959000	0.62525	9.535000	0.98064	2.878000	0.98634	0.650000	0.86243	ACG		0.587	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		A	100897128	G	A	100897128	3	1	191	1	0	0	0	0	1	0	0	0	3756	1145	40	1	1185	1	CORO2A	9	100897128	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		100897128	40316303	26	13495											
OR51B6	390058	broad.mit.edu	37	chr11	5373571	5373571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaatgagctacatccaCttccttttcccaccttttat	10	15	2	14	0	1	1	1	1	0	0	4	1	4	1	4	0	2	1	4	0	3	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:5373571C>A	ENST00000380219.1	+	1	834	c.834C>A	c.(832-834)caC>caA	p.H278Q	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	278					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATCCACTTCCTTTTCC	0.398																																						uc010qzb.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(832-834)caC>caA		Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.							179	166	170					11																	5373571		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373571C>A		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.834C>A	11.37:g.5373571C>A	ENSP00000369568:p.His278Gln					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.H278Q	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	834	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	278						Missense_Mutation	SNP	ENST00000380219.1	37	c.834C>A	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356660	0.41801	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00084	8.75	5.13	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.277746	0.25789	N	0.028284	T	0.00271	0.0008	M	0.74467	2.265	0.20821	N	0.999846	B	0.33318	0.408	P	0.46299	0.511	T	0.12967	-1.0527	10	0.87932	D	0	.	7.5299	0.27677	0.0:0.6097:0.0:0.3903	.	278	Q9H340	O51B6_HUMAN	Q	277;278	ENSP00000369568:H278Q	ENSP00000369568:H278Q	H	+	3	2	OR51B6	5330147	0.000000	0.05858	0.111000	0.21465	0.786000	0.44442	0.043000	0.13971	0.200000	0.20447	0.650000	0.86243	CAC		0.398	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373571	C	A	5373571	3	1	191	1	0	0	0	0	1	0	0	0	11092	564	20	5	836	5	OR51B6	11	5373571	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		5373571	129632945	27	13496											
ADM	133	broad.mit.edu	37	chr11	10327296	10327296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggttcgctcgccttcCtaggcgctgacaccgctcgg	4	9	12	16	5	0	1	0	1	0	0	4	1	1	1	4	3	0	4	4	3	1	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:10327296C>T	ENST00000528655.1	+	1	666	c.49C>T	c.(49-51)Cta>Tta	p.L17L	ADM_ENST00000528544.1_Silent_p.L17L|ADM_ENST00000525063.1_Silent_p.L17L|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000526492.1_Silent_p.L17L|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000278175.5_Silent_p.L17L|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000524948.1_Silent_p.L17L			P35318	ADML_HUMAN	adrenomedullin	17					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCTCGCCTTCCTAGGCGCTGA	0.612																																						uc001mil.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(49-51)Cta>Tta		Homo sapiens adrenomedullin (ADM), mRNA.							88	81	83					11																	10327296		2201	4294	6495	SO:0001819	synonymous_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327296C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.49C>T	11.37:g.10327296C>T							p.L17L	NM_001124	NP_001115	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	205	+			17					B2R793|D3DQV3|Q6FGW2	Silent	SNP	ENST00000528655.1	37	c.49C>T	CCDS7801.1																																																																																				0.612	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		T	10327296	C	T	10327296	2	4	191	1	0	0	0	0	0	0	0	1	321	680	24	3		3	ADM	11	10327296	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	4953725	10327296	124679220	28	13497											
CHST1	8534	broad.mit.edu	37	chr11	45671304	45671304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcttcagctcctcctcCgaggcggcgatcttgtagcc	4	11	12	14	3	3	0	1	0	2	0	6	2	6	0	4	3	2	3	4	3	1	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:45671304C>T	ENST00000308064.2	-	4	1840	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	390					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692																																						uc021qgn.1																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(1168-1170)tcG>tcA		Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.							43	47	45					11																	45671304		2202	4297	6499	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671304C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1170G>A	11.37:g.45671304C>T						CHST1_uc001mys.2_Silent_p.S390S	p.S390S	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	0	1170	-			390					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.1170G>A	CCDS7913.1																																																																																				0.692	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		T	45671304	C	T	45671304	2	4	191	1	0	0	0	0	0	0	0	1	3397	639	23	2		2	CHST1	11	45671304	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	35344008	45671304	89335212	29	13498											
OR4P4	81300	broad.mit.edu	37	chr11	55406609	55406609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttcatttacattagacCggtcacaacattctcagaag	13	13	6	9	1	3	2	3	0	1	2	4	2	3	2	1	1	2	1	1	1	4	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55406609C>T	ENST00000314612.2	+	1	776	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACATTAGACCGGTCACAACA	0.418																																						uc010rij.2																			0		p.R258I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(775-777)cCg>cTg		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							205	155	173					11																	55406609		2182	4035	6217	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406609C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.776C>T	11.37:g.55406609C>T	ENSP00000324831:p.Pro259Leu						p.P259L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	776	+			259						Missense_Mutation	SNP	ENST00000314612.2	37	c.776C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313311	0.40996	.	.	ENSG00000181927	ENST00000314612	T	0.00279	8.33	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001046	T	0.00608	0.0020	M	0.91038	3.17	0.44194	D	0.997011	P	0.42161	0.772	P	0.47102	0.537	T	0.64989	-0.6277	10	0.87932	D	0	-8.4927	16.9274	0.86180	0.0:1.0:0.0:0.0	.	259	Q8NGL7	OR4P4_HUMAN	L	259	ENSP00000324831:P259L	ENSP00000324831:P259L	P	+	2	0	OR4P4	55163185	0.018000	0.18449	0.899000	0.35326	0.136000	0.21042	1.440000	0.35024	2.575000	0.86900	0.637000	0.83480	CCG		0.418	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		T	55406609	C	T	55406609	3	4	191	1	0	0	0	0	1	0	0	0	11080	652	23	2	778	2	OR4P4	11	55406609	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	9735305	55406609	79599907	30	13499											
OR5D13	390142	broad.mit.edu	37	chr11	55541762	55541762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtgttttacacagtggcGattccaatgctgaacccatt	9	14	8	10	1	1	1	0	1	1	0	2	2	2	1	2	1	3	2	2	1	3	4	rs150209335	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55541762G>A	ENST00000361760.1	+	1	849	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A283A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACAGTGGCGATTCCAATGC	0.363													G|||	2	0.000399361	0.0015	0	5008	,	,		719	0		0	False		,,,				2504	0					uc010ril.2																			1	Substitution - coding silent(1)	p.A283A(2)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(847-849)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.		G		5,4395	11.4+/-27.6	0,5,2195	79	66	71		849	1.6	0.1	11	dbSNP_134	71	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	OR5D13	NM_001001967.1		0,7,6489	AA,AG,GG		0.0233,0.1136,0.0539		283/315	55541762	7,12985	2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541762G>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.849G>A	11.37:g.55541762G>A							p.A283A	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	849	+		all_epithelial(135;0.196)	283					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.849G>A	CCDS31507.1																																																																																				0.363	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		A	55541762	G	A	55541762	2	1	191	1	0	0	0	0	0	0	0	1	11154	1045	37	2		2	OR5D13	11	55541762	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	135153	55541762	79464754	31	13500											
OR6Q1	219952	broad.mit.edu	37	chr11	57798597	57798597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggaccaccgactacGgagacccatgtatttcttcc	8	11	10	12	2	1	1	0	0	1	1	2	4	2	2	4	3	1	2	4	3	2	5			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:57798597G>A	ENST00000302622.3	+	1	196	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCGACTACGGAGACCCATG	0.483																																						uc010rjz.2																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(172-174)cGg>cAg		Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.							215	204	208					11																	57798597		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798597G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.173G>A	11.37:g.57798597G>A	ENSP00000307734:p.Arg58Gln					OR9Q1_uc001nmj.3_Intron	p.R58Q	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			0	173	+		Breast(21;0.0707)|all_epithelial(135;0.142)	58					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.173G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	5.404	0.259703	0.10239	.	.	ENSG00000172381	ENST00000302622	T	0.03004	4.08	4.8	-5.69	0.02428	GPCR, rhodopsin-like superfamily (1);	1.674520	0.03852	N	0.272426	T	0.01695	0.0054	N	0.00811	-1.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48581	-0.9023	10	0.59425	D	0.04	.	14.4019	0.67053	0.728:0.0:0.272:0.0	.	58	Q8NGQ2	OR6Q1_HUMAN	Q	58	ENSP00000307734:R58Q	ENSP00000307734:R58Q	R	+	2	0	OR6Q1	57555173	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.086000	0.14935	-1.095000	0.03050	-1.662000	0.00750	CGG		0.483	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		A	57798597	G	A	57798597	3	1	191	1	0	0	0	0	1	0	0	0	11208	1116	39	2	175	2	OR6Q1	11	57798597	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	2256835	57798597	77207919	32	13501											
SLC22A11	55867	broad.mit.edu	37	chr11	64329558	64329558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcgccccaacattcGtcatctactgcggcctgcgg	6	10	8	17	4	3	0	1	0	2	0	5	0	3	0	4	2	4	0	4	2	2	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:64329558G>A	ENST00000301891.4	+	3	954	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	SLC22A11_ENST00000377585.3_Missense_Mutation_p.V194I|SLC22A11_ENST00000377581.3_Missense_Mutation_p.V194I|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	194					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCAACATTCGTCATCTACTG	0.622											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001oai.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(580-582)Gtc>Atc		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						61	55	57					11																	64329558		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329558G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.580G>A	11.37:g.64329558G>A	ENSP00000301891:p.Val194Ile		OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc009ypq.3_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	p.V194I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			2	954	+			194					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.580G>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	2.723	-0.266237	0.05754	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.73681	-0.77;-0.77;-0.77	3.29	-6.58	0.01836	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.296140	0.05399	N	0.540338	T	0.40956	0.1138	N	0.05487	-0.04	0.09310	N	1	B;P;B	0.42161	0.356;0.772;0.409	B;B;B	0.34418	0.073;0.182;0.12	T	0.47812	-0.9088	10	0.21014	T	0.42	.	0.8835	0.01239	0.2276:0.1735:0.3448:0.254	.	194;194;194	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	I	194	ENSP00000301891:V194I;ENSP00000366809:V194I;ENSP00000366804:V194I	ENSP00000301891:V194I	V	+	1	0	SLC22A11	64086134	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.252000	0.00137	-1.811000	0.01229	-2.766000	0.00121	GTC		0.622	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		A	64329558	G	A	64329558	3	1	191	1	0	0	0	0	1	0	0	0	14442	1145	40	1	590	1	SLC22A11	11	64329558	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	6530961	64329558	70676958	33	13502											
RAB38	23682	broad.mit.edu	37	chr11	87847172	87847172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctactaggatttggcacagCcagagcagctggcaaccttg	10	8	11	12	0	0	1	0	0	0	1	0	2	0	2	3	3	5	4	3	3	3	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:87847172C>A	ENST00000243662.6	-	3	702	c.620G>T	c.(619-621)gGc>gTc	p.G207V	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	207					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGGCACAGCCAGAGCAGCT	0.473																																						uc001pcj.2																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(619-621)gGc>gTc		Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.							128	120	123					11																	87847172		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847172C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.620G>T	11.37:g.87847172C>A	ENSP00000243662:p.Gly207Val						p.G207V	NM_022337	NP_071732	P57729	RAB38_HUMAN			2	703	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	207					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.620G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.127|8.127	0.782173|0.782173	0.16189|0.16189	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.70045|.	-0.45|.	5.47|5.47	4.54|4.54	0.55810|0.55810	.|.	0.562928|.	0.21009|.	N|.	0.081713|.	T|T	0.32285|0.32285	0.0824|0.0824	N|N	0.08118|0.08118	0|0	0.53005|0.53005	D|D	0.999961|0.999961	B|.	0.15930|.	0.015|.	B|.	0.15484|.	0.013|.	T|T	0.09684|0.09684	-1.0663|-1.0663	9|5	.|.	.|.	.|.	-9.4445|-9.4445	7.2527|7.2527	0.26158|0.26158	0.0:0.7375:0.1731:0.0894|0.0:0.7375:0.1731:0.0894	.|.	207|.	P57729|.	RAB38_HUMAN|.	V|C	207|205	ENSP00000243662:G207V|.	.|.	G|W	-|-	2|3	0|0	RAB38|RAB38	87486820|87486820	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.182000|0.182000	0.23217|0.23217	3.803000|3.803000	0.55560|0.55560	2.724000|2.724000	0.93272|0.93272	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.473	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			A	87847172	C	A	87847172	3	1	191	1	0	0	0	0	1	0	0	0	12928	739	26	5	19	5	RAB38	11	87847172	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	23517614	87847172	47159344	34	13503											
CCND2	894	broad.mit.edu	37	chr12	4409083	4409083	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcaatagcctgcagCagtaccgtcaggaccaacgt	10	8	9	14	2	2	0	2	0	0	0	3	1	3	1	4	1	6	4	4	1	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:4409083C>T	ENST00000261254.3	+	5	1047	c.778C>T	c.(778-780)Cag>Tag	p.Q260*		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	260					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TAGCCTGCAGCAGTACCGTCA	0.542			T	IGL@	"NHL,CLL"																																	uc001qmo.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"NHL,CLL"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(778-780)Cag>Tag		Homo sapiens cyclin D2 (CCND2), mRNA.							106	89	95					12																	4409083		2203	4300	6503	SO:0001587	stop_gained	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4409083C>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.778C>T	12.37:g.4409083C>T	ENSP00000261254:p.Gln260*						p.Q260*	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	1083	+			260					A8K531|Q13955|Q5U035	Nonsense_Mutation	SNP	ENST00000261254.3	37	c.778C>T	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	38	7.034117	0.98017	.	.	ENSG00000118971	ENST00000261254	.	.	.	4.94	4.94	0.65067	.	0.115998	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.1948	0.86890	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000261254:Q260X	Q	+	1	0	CCND2	4279344	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.994000	0.40757	2.298000	0.77334	0.563000	0.77884	CAG		0.542	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		T	4409083	C	T	4409083	4	4	191	1	0	0	0	0	0	1	0	0	2917	711	25	3	796	3	CCND2	12	4409083	Nonsense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		4409083	129442812	35	13504											
PRPF40B	25766	broad.mit.edu	37	chr12	50030609	50030609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggagcgacgccaacaaCgcaagaatcgggaggccttc	11	5	13	12	5	0	1	0	0	0	1	3	4	0	3	2	3	3	1	2	3	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:50030609C>T	ENST00000380281.1	+	15	1535	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	PRPF40B_ENST00000261897.1_Missense_Mutation_p.R485C|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R513C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	491	FF 4.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACGCCAACAACGCAAGAATCG	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rur.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1471-1473)Cgc>Tgc		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.							104	102	102					12																	50030609		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50030609C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1471C>T	12.37:g.50030609C>T	ENSP00000369634:p.Arg491Cys		OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	p.R491C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			14	1534	+			491					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1471C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.219827	0.95139	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.59083	0.29;0.3	4.86	4.86	0.63082	FF domain (2);	0.000000	0.64402	D	0.000004	T	0.78000	0.4215	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79690	-0.1698	9	.	.	.	-10.3045	17.2809	0.87128	0.0:1.0:0.0:0.0	.	491;485;491	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	485;491	ENSP00000261897:R485C;ENSP00000369634:R491C	.	R	+	1	0	PRPF40B	48316876	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.447000	0.80620	2.704000	0.92352	0.655000	0.94253	CGC		0.577	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50030609	C	T	50030609	3	4	191	1	0	0	0	0	1	0	0	0	12572	536	19	1	1529	1	PRPF40B	12	50030609	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	45621526	50030609	83821286	36	13505											
LEMD3	23592	broad.mit.edu	37	chr12	65564282	65564282	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgactgctaaatcggcCggcggcaggctggagacttc	7	7	14	13	4	0	2	0	1	0	1	2	3	0	2	2	5	1	4	2	5	2	2	rs376059733		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:65564282C>A	ENST00000308330.2	+	1	932	c.906C>A	c.(904-906)gcC>gcA	p.A302A	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	302					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAAATCGGCCGGCGGCAGGC	0.622																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(904-906)gcC>gcA		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							24	28	27					12																	65564282		2201	4297	6498	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564282C>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.906C>A	12.37:g.65564282C>A						LEMD3_uc009zqo.2_Silent_p.A302A	p.A302A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	0	932	+			302					Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.906C>A	CCDS8972.1																																																																																				0.622	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			A	65564282	C	A	65564282	2	1	191	1	0	0	0	0	0	0	0	1	8721	639	23	5		5	LEMD3	12	65564282	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	15533673	65564282	68287613	37	13506											
GLT1D1	144423	broad.mit.edu	37	chr12	129360521	129360521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctttgactttgaaagccGatctgagattgcaaacctca	11	12	8	10	1	2	3	1	3	1	1	2	5	2	3	3	0	4	1	3	0	2	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:129360521G>A	ENST00000442111.2	+	2	219	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	GLT1D1_ENST00000537468.1_Missense_Mutation_p.R33Q|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R44Q|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	44					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488																																						uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(97-99)cGa>cAa		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.							164	165	164					12																	129360521		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360521G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.131G>A	12.37:g.129360521G>A	ENSP00000394692:p.Arg44Gln					GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.R33Q	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	107	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		44					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.98G>A		.	.	.	.	.	.	.	.	.	.	C	14.86	2.662438	0.47572	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79454	-1.27;1.01;1.01	5.54	4.64	0.57946	.	0.426948	0.25817	N	0.028105	T	0.55097	0.1899	N	0.08118	0	0.25293	N	0.989345	B;B	0.32653	0.379;0.001	B;B	0.28709	0.093;0.0	T	0.41270	-0.9518	10	0.17832	T	0.49	-2.0878	10.9997	0.47598	0.1464:0.7132:0.1404:0.0	.	33;44	F5H088;Q96MS3-2	.;.	Q	44;44;33	ENSP00000394692:R44Q;ENSP00000281703:R44Q;ENSP00000438158:R33Q	ENSP00000281703:R44Q	R	+	2	0	GLT1D1	127926474	0.036000	0.19791	0.041000	0.18516	0.186000	0.23388	1.054000	0.30455	0.680000	0.31366	-0.120000	0.15030	CGA		0.488	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		A	129360521	G	A	129360521	3	1	191	1	0	0	0	0	1	0	0	0	6465	1058	37	2	137	2	GLT1D1	12	129360521	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	63796239	129360521	4491374	38	13507											
F7	2155	broad.mit.edu	37	chr13	113771870	113771870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccgcggcccactgtttCgacaaaatcaagaactggag	11	8	10	12	3	2	1	1	0	1	1	4	3	2	2	2	2	1	1	2	2	4	1	rs376480781		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr13:113771870C>T	ENST00000375581.3	+	8	800	c.765C>T	c.(763-765)ttC>ttT	p.F255F	F7_ENST00000541084.1_Silent_p.F186F|F7_ENST00000346342.3_Silent_p.F233F	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCACTGTTTCGACAAAATCA	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		16808	0		0	False		,,,				2504	0					uc001vsv.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(763-765)ttC>ttT		Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	C	,	0,4406		0,0,2203	169	158	162		765,699	-0.4	0.7	13		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	F7	NM_000131.3,NM_019616.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	255/467,233/445	113771870	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113771870C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.765C>T	13.37:g.113771870C>T						F7_uc001vsw.3_Silent_p.F233F|F7_uc010tjt.2_Silent_p.F186F	p.F255F	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		7	816	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	255			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.765C>T	CCDS9528.1																																																																																				0.622	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		T	113771870	C	T	113771870	2	4	191	1	0	0	0	0	0	0	0	1	5349	883	31	2		2	F7	13	113771870	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		113771870	1398008	39	13508											
STYX	6815	broad.mit.edu	37	chr14	53217446	53217446	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacccatataatatgcataCgacaaaatattgaagcaaac	20	9	4	8	1	0	1	0	1	0	0	0	2	0	1	1	0	5	2	1	0	10	7			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:53217446C>T	ENST00000354586.4	+	4	483	c.190C>T	c.(190-192)Cga>Tga	p.R64*	STYX_ENST00000442123.2_Nonsense_Mutation_p.R64*|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	64					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AATATGCATACGACAAAATAT	0.289																																						uc010tqy.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(190-192)Cga>Tga		Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.							80	83	82					14																	53217446		2202	4290	6492	SO:0001587	stop_gained	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53217446C>T		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	11447	protein-coding gene	gene with protein product		615814	"serine/threonine/tyrosine-interacting protein"			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.190C>T	14.37:g.53217446C>T	ENSP00000346599:p.Arg64*					STYX_uc001xaa.3_Nonsense_Mutation_p.R64*	p.R64*	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN			4	252	+	Breast(41;0.176)		64					B9EJG0|Q99850	Nonsense_Mutation	SNP	ENST00000354586.4	37	c.190C>T	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740019	0.89573	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	.	.	.	5.48	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	9.5247	0.39158	0.3807:0.523:0.0:0.0964	.	.	.	.	X	64	.	ENSP00000346599:R64X	R	+	1	2	STYX	52287196	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.329000	0.43876	0.150000	0.19136	-0.253000	0.11424	CGA		0.289	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		T	53217446	C	T	53217446	4	4	191	1	0	0	0	0	0	1	0	0	15359	528	19	1	204	1	STYX	14	53217446	Nonsense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		53217446	54132094	40	13509											
KIAA1409	57578	broad.mit.edu	37	chr14	94109960	94109960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacacttgggctagcCatcgtggtcctctccacatt	9	10	10	12	1	1	1	0	0	1	1	4	3	2	1	3	2	1	1	3	2	2	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:94109960C>T	ENST00000393151.2	+	35	6078	c.6078C>T	c.(6076-6078)gcC>gcT	p.A2026A	UNC79_ENST00000555664.1_Silent_p.A1987A|UNC79_ENST00000553484.1_Silent_p.A2048A|UNC79_ENST00000256339.4_Silent_p.A1849A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2026					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGGGCTAGCCATCGTGGTCC	0.498																																						uc001ybv.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5611-5613)gcC>gcT		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							161	135	144					14																	94109960		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94109960C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6078C>T	14.37:g.94109960C>T						UNC79_uc001ybs.1_Silent_p.A1849A	p.A1871A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			32	5696	+			2026					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5613C>T																																																																																					0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94109960	C	T	94109960	2	4	191	1	0	0	0	0	0	0	0	1	8230	581	21	3		3	KIAA1409	14	94109960	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	40892514	94109960	13239580	41	13510											
AHNAK2	113146	broad.mit.edu	37	chr14	105418809	105418809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgaacttgctgtctttGgcagtcacgtccttgtcggc	5	16	10	10	2	2	1	1	1	1	0	4	1	3	1	1	2	2	2	1	2	1	5			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:105418809G>A	ENST00000333244.5	-	7	3098	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	993						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTGTCTTTGGCAGTCACGT	0.602																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2977-2979)gcC>gcT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							260	282	275					14																	105418809		2005	4168	6173	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418809G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2979C>T	14.37:g.105418809G>A						AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A893A	p.A993A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	3099	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	993					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2979C>T	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105418809	G	A	105418809	2	1	191	1	0	0	0	0	0	0	0	1	415	1335	47	3		3	AHNAK2	14	105418809	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	11308849	105418809	1930731	42	13511											
SYNM	23336	broad.mit.edu	37	chr15	99671205	99671205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaggacacagaaggaCggtgcagtgggcgagaaggt	13	3	19	6	3	0	2	0	0	0	2	0	7	0	5	0	6	1	1	0	6	3	0	rs376601188		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:99671205C>T	ENST00000560674.1	+	4	2251	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	SYNM_ENST00000328642.7_Silent_p.D879D|SYNM_ENST00000336292.6_Silent_p.D879D|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	880	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACAGAAGGACGGTGCAGTGG	0.582													C|||	1	0.000199681	0	0	5008	,	,		17126	0		0	False		,,,				2504	0.001				Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(2635-2637)gaC>gaT		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.		C	,	1,4171		0,1,2085	56	61	59		2639,2639	-9.1	0	15		59	1,8403		0,1,4201	no	coding-synonymous,coding-synonymous	SYNM	NM_015286.5,NM_145728.2	,	0,2,6286	TT,TC,CC		0.0119,0.024,0.0159	,	880/1254,880/1566	99671205	2,12574	2086	4202	6288	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99671205C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1782C>T	15.37:g.99671205C>T						SYNM_uc002buo.3_Silent_p.D879D|SYNM_uc002buq.3_Intron	p.D879D	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	2757	+			880			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.2637C>T																																																																																					0.582	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		T	99671205	C	T	99671205	2	4	191	1	0	0	0	0	0	0	0	1	15452	535	19	1		1	SYNM	15	99671205	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		99671205	2860187	43	13512											
GRIN2A	2903	broad.mit.edu	37	chr16	9857448	9857448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatttccctccagaagcCgttccctgtccttgaggctt	9	12	7	13	1	0	2	0	1	0	1	4	2	4	2	5	1	1	2	5	1	3	4	rs149745535		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:9857448C>T	ENST00000396573.2	-	14	4262	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1318Q|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1318Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1318			R -> W (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCAGAAGCCGTTCCCTGTC	0.527																																						uc010uym.2																			0		p.R1318W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3952-3954)cGg>cAg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	C	GLN/ARG,GLN/ARG,	1,4393	2.1+/-5.4	0,1,2196	97	100	99		3953,3953,	3.5	0.9	16	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense,intron	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	43,43,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,	1318/1465,1318/1465,	9857448	1,12993	2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857448C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3953G>A	16.37:g.9857448C>T	ENSP00000379818:p.Arg1318Gln					GRIN2A_uc002czo.4_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	p.R1318Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4263	-			1318					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3953G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455418	0.63401	2.28E-4	0.0	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.23348	1.91;1.91;1.91	5.47	3.53	0.40419	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.096756	0.64402	N	0.000005	T	0.27731	0.0682	M	0.77103	2.36	0.80722	D	1	B	0.19331	0.035	B	0.15870	0.014	T	0.05338	-1.0891	9	.	.	.	.	8.8015	0.34912	0.0:0.746:0.0:0.254	.	1318	Q12879	NMDE1_HUMAN	Q	1318	ENSP00000379818:R1318Q;ENSP00000332549:R1318Q;ENSP00000379820:R1318Q	.	R	-	2	0	GRIN2A	9764949	1.000000	0.71417	0.915000	0.36163	0.996000	0.88848	2.952000	0.49097	0.808000	0.34231	0.650000	0.86243	CGG		0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9857448	C	T	9857448	3	4	191	1	0	0	0	0	1	0	0	0	6779	652	23	2	445	2	GRIN2A	16	9857448	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		9857448	80497305	44	13513											
DNAH3	55567	broad.mit.edu	37	chr16	21156695	21156695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccatgacgtgcgttgcatCaagggcgggtaaaagctgtg	9	9	15	8	3	1	1	1	1	0	0	2	1	2	1	1	2	3	4	1	2	3	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:21156695C>G	ENST00000261383.3	-	3	254	c.255G>C	c.(253-255)ttG>ttC	p.L85F	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.L85F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	85	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCGTTGCATCAAGGGCGGGT	0.527																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(253-255)ttG>ttC		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							152	119	130					16																	21156695		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21156695C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.255G>C	16.37:g.21156695C>G	ENSP00000261383:p.Leu85Phe					DNAH3_uc002die.2_Missense_Mutation_p.L56F	p.L85F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	2	255	-			85			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.255G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380000	0.61845	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.31510	1.49;1.54	5.81	2.79	0.32731	.	0.000000	0.48767	D	0.000172	T	0.39436	0.1078	L	0.36672	1.1	0.37732	D	0.925316	D;D	0.76494	0.995;0.999	P;D	0.74674	0.796;0.984	T	0.36529	-0.9744	10	0.72032	D	0.01	.	7.2423	0.26104	0.0:0.7013:0.1423:0.1563	.	85;56	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	F	85;85;56	ENSP00000261383:L85F;ENSP00000394245:L85F	ENSP00000261383:L85F	L	-	3	2	DNAH3	21064196	0.977000	0.34250	0.981000	0.43875	0.642000	0.38348	0.098000	0.15189	0.790000	0.33803	0.655000	0.94253	TTG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	21156695	C	G	21156695	3	3	191	1	0	0	0	0	1	0	0	0	4603	825	29	5	12334	5	DNAH3	16	21156695	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	11299247	21156695	69198058	45	13514											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884862	29884862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccccagactcacaggCgcatttggggaccctatcgc	7	8	12	14	2	1	1	1	0	0	1	2	2	1	2	3	3	1	1	3	3	1	2	rs375292147		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:29884862C>T	ENST00000308713.5	-	13	2820	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A721T|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A651T|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.A695T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	765	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACAGGCGCATTTGGGG	0.672																																						uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2293-2295)Gcc>Acc		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4394		0,0,2197	60	55	57		2083,1951,2083,2293	4.7	1	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	58,58,58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	695/841,651/810,695/854,765/911	29884862	1,12993	2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884862C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2293G>A	16.37:g.29884862C>T	ENSP00000312550:p.Ala765Thr					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.A695T|SEZ6L2_uc002dur.4_Missense_Mutation_p.A695T|SEZ6L2_uc002duq.4_Missense_Mutation_p.A765T|SEZ6L2_uc010ved.2_Missense_Mutation_p.A721T|SEZ6L2_uc002dus.4_Missense_Mutation_p.A651T	p.A765T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			12	2538	-			765			Sushi 4.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2293G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171881	0.57584	0.0	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.33216	1.63;1.42;1.58;1.6	4.67	4.67	0.58626	Complement control module (1);Sushi/SCR/CCP (1);	0.182761	0.26680	N	0.023060	T	0.13072	0.0317	N	0.03050	-0.425	0.48185	D	0.999605	P;P;B;B;B;P	0.38677	0.617;0.567;0.429;0.411;0.338;0.642	B;B;B;B;B;B	0.28465	0.065;0.026;0.058;0.063;0.017;0.09	T	0.16453	-1.0402	10	0.42905	T	0.14	.	16.3465	0.83134	0.0:1.0:0.0:0.0	.	721;765;651;695;765;695	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	T	695;765;651;721	ENSP00000310206:A695T;ENSP00000312550:A765T;ENSP00000319215:A651T;ENSP00000439412:A721T	ENSP00000312550:A765T	A	-	1	0	SEZ6L2	29792363	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.106000	0.50322	2.138000	0.66242	0.655000	0.94253	GCC		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29884862	C	T	29884862	3	4	191	1	0	0	0	0	1	0	0	0	14144	768	27	1	502	1	SEZ6L2	16	29884862	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	8728167	29884862	60469891	46	13515											
CMTM2	146225	broad.mit.edu	37	chr16	66613682	66613682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacctcaaaaggcggtgcagCccaagcacgaagtgggcacg	13	3	13	12	3	1	0	1	0	0	0	1	1	1	0	2	3	4	3	2	3	5	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:66613682C>T	ENST00000268595.2	+	1	323	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.P58S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	58					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGCGGTGCAGCCCAAGCACGA	0.557																																						uc002ept.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(172-174)Ccc>Tcc		Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.							63	61	61					16																	66613682		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613682C>T	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.172C>T	16.37:g.66613682C>T	ENSP00000268595:p.Pro58Ser					CMTM2_uc010cdu.3_Missense_Mutation_p.P58S	p.P58S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	0	332	+		Ovarian(137;0.0563)	58					Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.172C>T	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604386	0.46423	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.56776	0.44;1.03	3.34	3.34	0.38264	.	0.374312	0.23476	N	0.047780	T	0.62829	0.2460	L	0.50333	1.59	0.31194	N	0.700552	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.943	T	0.64106	-0.6485	10	0.54805	T	0.06	-2.5459	10.4856	0.44719	0.0:1.0:0.0:0.0	.	58;58	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	S	58	ENSP00000368800:P58S;ENSP00000268595:P58S	ENSP00000268595:P58S	P	+	1	0	CMTM2	65171183	0.980000	0.34600	0.998000	0.56505	0.214000	0.24535	0.910000	0.28571	2.160000	0.67779	0.561000	0.74099	CCC		0.557	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			T	66613682	C	T	66613682	3	4	191	1	0	0	0	0	1	0	0	0	3583	739	26	3	174	3	CMTM2	16	66613682	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	36728820	66613682	23741071	47	13516											
DNAI2	64446	broad.mit.edu	37	chr17	72308276	72308276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgtagacctggaggcGctggtcagcaaggccgagga	8	5	17	11	3	1	1	1	0	0	1	1	4	1	3	3	6	1	3	3	6	2	1	rs201925425		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:72308276G>A	ENST00000311014.6	+	12	1696	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000579490.1_Silent_p.A600A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Silent_p.A531A|DNAI2_ENST00000446837.2_Silent_p.A543A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	543					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCTGGAGGCGCTGGTCAGCA	0.617									Kartagener syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		16378	0		0	False		,,,				2504	0					uc002jkf.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1627-1629)gcG>gcA		Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.							79	60	67					17																	72308276		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308276G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1629G>A	17.37:g.72308276G>A						DNAI2_uc002jkg.3_Silent_p.A531A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	p.A543A	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			11	1739	+			543					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1629G>A	CCDS11697.1																																																																																				0.617	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		A	72308276	G	A	72308276	2	1	191	1	0	0	0	0	0	0	0	1	4610	1074	38	1		1	DNAI2	17	72308276	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08		72308276	8886934	48	13517											
QRICH2	84074	broad.mit.edu	37	chr17	74276772	74276772	+	Frame_Shift_Del	DEL	T	T	-																															ccaggtgctccctgttggccTtttccttttcgagcttctcc																										TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:74276772delT	ENST00000262765.5	-	10	4105	c.3926delA	c.(3925-3927)aagfs	p.K1309fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1309										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTGTTGGCCTTTTCCTTTTC	0.587																																						uc002jrd.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3925-3927)aagfs		Homo sapiens glutamine rich 2 (QRICH2), mRNA.							167	153	158					17																	74276772		2203	4300	6503	SO:0001589	frameshift_variant	84074						protein binding	g.chr17:74276772delT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3926delA	17.37:g.74276772delT	ENSP00000262765:p.Lys1309fs					QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs	p.K1309fs	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			9	4106	-			1309					A2RRE1|Q96LM3	Frame_Shift_Del	DEL	ENST00000262765.5	37	c.3926delA	CCDS32741.1																																																																																				0.587	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		-	74276772	T	-	74276772	7	5	191	1	0	1	0	1	0	0	0	0	12880	1609	56	0	1105	0	QRICH2	17	74276772	Frame_Shift_Del	DEL	T	TCGA-27-2518-01A-01D-1494-08	1968496	74276772	6918438	49	13518											
SERPINB13	5275	broad.mit.edu	37	chr18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggattcacttggcgccGtcagcactcgacttgggttt	6	13	11	11	3	3	0	3	0	0	0	4	2	3	1	1	3	1	2	1	3	0	4	rs139825462		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr18:61255920G>A	ENST00000344731.5	+	2	121	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.V7I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	7					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V7I(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418																																						uc010xep.2																			3	Substitution - Missense(3)	p.V7I(6)	prostate(2)|kidney(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(19-21)Gtc>Atc		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	94	90	91		19	2.1	0	18	dbSNP_134	91	0,8600		0,0,4300	no	missense	SERPINB13	NM_012397.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	7/392	61255920	3,13003	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61255920G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.19G>A	18.37:g.61255920G>A	ENSP00000341584:p.Val7Ile					SERPINB13_uc002ljc.3_Missense_Mutation_p.V7I|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	p.V7I	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			1	187	+			7					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.19G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380737	0.24944	6.81E-4	0.0	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.82081	-0.79;2.82;-1.57	4.89	2.12	0.27331	Serpin domain (1);	0.365172	0.23587	N	0.046598	T	0.69178	0.3082	N	0.20881	0.62	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.59547	-0.7434	10	0.59425	D	0.04	.	6.7555	0.23512	0.0764:0.1282:0.6636:0.1318	.	7;7	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	I	37;7;7;7	ENSP00000388300:V37I;ENSP00000269489:V7I;ENSP00000341584:V7I	ENSP00000269489:V7I	V	+	1	0	SERPINB13	59406900	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.742000	0.26216	0.261000	0.21753	-1.149000	0.01842	GTC		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		A	61255920	G	A	61255920	3	1	191	1	0	0	0	0	1	0	0	0	14100	1145	40	1	21	1	SERPINB13	18	61255920	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		61255920	16821328	50	13519											
CLEC4M	10332	broad.mit.edu	37	chr19	7833731	7833731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctttgcagcttccagCggtactggaacagtggagaa	10	9	14	8	1	0	1	0	0	0	1	1	3	1	2	1	4	5	4	1	4	3	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:7833731C>T	ENST00000327325.5	+	7	1175	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	CLEC4M_ENST00000394122.2_Missense_Mutation_p.R341W|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A223V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.R217W|CLEC4M_ENST00000248228.4_Missense_Mutation_p.R331W|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A315V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.R286W|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A287V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.R302W|CLEC4M_ENST00000359059.5_Missense_Mutation_p.R286W	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	353	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGCTTCCAGCGGTACTGGAA	0.498																																						uc010dvt.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1057-1059)Cgg>Tgg		Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.							136	125	129					19																	7833731		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833731C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1057C>T	19.37:g.7833731C>T	ENSP00000316228:p.Arg353Trp					CLEC4M_uc002mih.3_Missense_Mutation_p.R330W|CLEC4M_uc010xjw.2_Missense_Mutation_p.R286W|CLEC4M_uc010dvs.3_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.2_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.3_Missense_Mutation_p.A223V|CLEC4M_uc002mic.3_Missense_Mutation_p.A287V|CLEC4M_uc002mia.3_Missense_Mutation_p.R217W	p.R353W	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN			6	1175	+			353			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1057C>T	CCDS12187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.95|11.95	1.791353|1.791353	0.31685|0.31685	.|.	.|.	ENSG00000104938|ENSG00000104938	ENST00000357361|ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T|T;T;T;T;T	0.03124|0.18174	4.04|2.23;2.23;2.23;2.23;2.23	1.95|1.95	0.891|0.891	0.19224|0.19224	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|.	.|.	.|.	.|.	T|T	0.30510|0.30510	0.0767|0.0767	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|D;D;D;D;P;D	0.26845|0.76494	0.161;0.07|0.992;0.987;0.999;0.986;0.778;0.997	B;B|P;P;D;P;B;P	0.19946|0.64877	0.027;0.016|0.818;0.713;0.93;0.848;0.015;0.863	T|T	0.09143|0.09143	-1.0688|-1.0688	8|8	0.87932|0.87932	D|D	0|0	.|.	4.887|4.887	0.13708|0.13708	0.6421:0.3579:0.0:0.0|0.6421:0.3579:0.0:0.0	.|.	287;223|302;286;353;341;330;217	Q9H2X3-9;Q9H2X3-4|B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.|.;.;CLC4M_HUMAN;.;.;.	V|W	315|353;341;331;302;286	ENSP00000349924:A315V|ENSP00000316228:R353W;ENSP00000377680:R341W;ENSP00000248228:R331W;ENSP00000335228:R302W;ENSP00000351954:R286W	ENSP00000349924:A315V|ENSP00000248228:R331W	A|R	+|+	2|1	0|2	CLEC4M|CLEC4M	7739731|7739731	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	-0.286000|-0.286000	0.08399|0.08399	0.225000|0.225000	0.20959|0.20959	0.306000|0.306000	0.20318|0.20318	GCG|CGG		0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		T	7833731	C	T	7833731	3	4	191	1	0	0	0	0	1	0	0	0	3518	768	27	1	1104	1	CLEC4M	19	7833731	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		7833731	51295252	51	13520											
SLC1A6	6511	broad.mit.edu	37	chr19	15067440	15067440	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtcagggtgtacatgccCagctgaccccccaggacggc	8	5	13	15	2	1	1	1	1	0	0	1	2	1	2	4	4	3	2	4	4	1	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:15067440C>T	ENST00000221742.3	-	6	1024	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Silent_p.L275L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	339					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGTACATGCCCAGCTGACCCC	0.587																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1015-1017)ctG>ctA		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						154	131	139					19																	15067440		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067440C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1017G>A	19.37:g.15067440C>T						SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	p.L339L	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	1024	-			339					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1017G>A	CCDS12321.1																																																																																				0.587	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15067440	C	T	15067440	2	4	191	1	0	0	0	0	0	0	0	1	14436	581	21	3		3	SLC1A6	19	15067440	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	7233709	15067440	44061543	52	13521											
KCNN1	3780	broad.mit.edu	37	chr19	18084899	18084899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagccccaggaccaggacGatgacgaggatgatgaggaa	13	3	16	9	2	0	3	0	3	0	0	0	9	0	7	3	5	1	1	3	5	1	0	rs187534285		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:18084899G>A	ENST00000222249.9	+	3	521	c.202G>A	c.(202-204)Gat>Aat	p.D68N	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	68					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GGACCAGGACGATGACGAGGA	0.701													G|||	1	0.000199681	0	0	5008	,	,		12788	0.001		0	False		,,,				2504	0					uc002nht.3																			0				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						c.(202-204)Gat>Aat		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.							31	43	39					19																	18084899		1976	4138	6114	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18084899G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.202G>A	19.37:g.18084899G>A	ENSP00000476519:p.Asp68Asn					KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	p.D68N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			2	512	+			68					Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.202G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	7.576	0.667656	0.14710	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.66	3.62	0.41486	.	0.464299	0.20743	U	0.086492	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.11329	0.006	T	0.15983	-1.0418	9	0.14656	T	0.56	-2.3489	10.862	0.46831	0.0936:0.0:0.9064:0.0	.	68	Q92952	KCNN1_HUMAN	N	85;68	.	ENSP00000222249:D85N	D	+	1	0	KCNN1	17945899	0.006000	0.16342	0.059000	0.19551	0.574000	0.36063	0.543000	0.23237	1.183000	0.42943	0.561000	0.74099	GAT		0.701	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		A	18084899	G	A	18084899	3	1	191	1	0	0	0	0	1	0	0	0	8078	1058	37	2	204	2	KCNN1	19	18084899	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	3017459	18084899	41044084	53	13522											
PSG6	5675	broad.mit.edu	37	chr19	43414919	43414919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaggtagcttgcatcCggagtctcaggatcacagat	12	8	10	11	1	2	1	2	0	1	1	4	3	3	3	2	3	3	3	2	3	2	2	rs1065506		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:43414919C>T	ENST00000292125.2	-	3	563	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PSG6_ENST00000187910.2_Silent_p.P173P|PSG6_ENST00000402603.4_Silent_p.P173P	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	173	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGCTTGCATCCGGAGTCTCAG	0.532													.|||	1	0.000199681	8e-04	0	5008	,	,		18613	0		0	False		,,,				2504	0					uc002ovj.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(517-519)ccG>ccA		Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.		C	,	1,4401		0,1,2200	210	207	208		519,519	-2.8	0	19	dbSNP_86	208	2,8596		0,2,4297	no	coding-synonymous,coding-synonymous	PSG6	NM_001031850.2,NM_002782.3	,	0,3,6497	TT,TC,CC		0.0233,0.0227,0.0231	,	173/425,173/436	43414919	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	5675				defense response|female pregnancy	extracellular region		g.chr19:43414919C>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.519G>A	19.37:g.43414919C>T						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.P173P	p.P173P	NM_002782	NP_002773	Q00888	PSG4_HUMAN			2	618	-		Prostate(69;0.00682)	174			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.519G>A	CCDS12613.1																																																																																				0.532	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		T	43414919	C	T	43414919	2	4	191	1	0	0	0	0	0	0	0	1	12659	639	23	2		2	PSG6	19	43414919	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	25330020	43414919	15714064	54	13523											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115643	52115643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagatgcttgatctccGgggctgtctggccagggctt	5	10	17	9	1	2	2	0	1	2	1	3	4	2	3	2	6	1	3	2	6	0	2	rs141897891	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:52115643G>A	ENST00000534261.2	-	10	1896	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	SIGLEC5_ENST00000429354.3_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000570106.2_Silent_p.P499P|SIGLEC5_ENST00000222107.4_Silent_p.P499P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507													A|||	4	0.000798722	0.003	0	5008	,	,		19083	0		0	False		,,,				2504	0					uc002pxe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1495-1497)ccC>ccT		Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.		A		5,4401	822.8+/-416.5	0,5,2198	73	77	76		1497	-6.3	0	19	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	SIGLEC5	NM_003830.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		499/552	52115643	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52115643G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1497C>T	19.37:g.52115643G>A							p.P499P	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	8	1636	-		all_neural(266;0.0726)	499		P -> A (in dbSNP:rs3829655).				Silent	SNP	ENST00000534261.2	37	c.1497C>T	CCDS33088.1																																																																																				0.507	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52115643	G	A	52115643	2	1	191	1	0	0	0	0	0	0	0	1	14311	1103	39	2		2	SIGLEC5	19	52115643	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	8700724	52115643	7013340	55	13524											
NLRP5	126206	broad.mit.edu	37	chr19	56515208	56515208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctcaccttttccagctaCgggctgcaatggtgtctcta	6	13	9	13	2	2	0	1	0	1	0	5	0	3	0	2	2	3	4	2	2	3	4	rs543185262		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:56515208C>T	ENST00000390649.3	+	2	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	63	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTTCCAGCTACGGGCTGCAAT	0.423																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(187-189)taC>taT		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							113	106	108					19																	56515208		1865	4109	5974	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515208C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.189C>T	19.37:g.56515208C>T						NLRP5_uc002qmi.3_Silent_p.Y63Y	p.Y63Y	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	1	189	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	63			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.189C>T	CCDS12938.1																																																																																				0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56515208	C	T	56515208	2	4	191	1	0	0	0	0	0	0	0	1	10480	547	19	1		1	NLRP5	19	56515208	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	4399565	56515208	2613775	56	13525											
SALL4	57167	broad.mit.edu	37	chr20	50407509	50407509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaggctgcaggtcacCgggcaaggagccacccgtga	9	3	15	14	2	1	1	1	1	0	0	1	2	1	2	4	5	2	3	4	5	1	0	rs200920825		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:50407509C>T	ENST00000217086.4	-	2	1624	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	505					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G505S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCAGGTCACCGGGCAAGGAG	0.567													C|||	1	0.000199681	0	0	5008	,	,		18937	0		0.001	False		,,,				2504	0					uc002xwh.4																			1	Substitution - Missense(1)	p.G505S(2)	lung(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1513-1515)Ggt>Agt		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							95	103	101					20																	50407509		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407509C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1513G>A	20.37:g.50407509C>T	ENSP00000217086:p.Gly505Ser					SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	p.G505S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	1614	-			505					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1513G>A	CCDS13438.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.011	-1.715745	0.00706	.	.	ENSG00000101115	ENST00000217086	T	0.08102	3.13	5.4	-8.8	0.00817	.	3.049620	0.00988	N	0.003485	T	0.03390	0.0098	N	0.05441	-0.05	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.37454	-0.9705	10	0.05959	T	0.93	0.1204	9.3015	0.37849	0.0:0.3667:0.397:0.2363	.	505	Q9UJQ4	SALL4_HUMAN	S	505	ENSP00000217086:G505S	ENSP00000217086:G505S	G	-	1	0	SALL4	49840916	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.902000	0.04088	-2.068000	0.00884	-1.300000	0.01332	GGT		0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50407509	C	T	50407509	3	4	191	1	0	0	0	0	1	0	0	0	13813	652	23	2	1660	2	SALL4	20	50407509	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		50407509	12618011	57	13526											
ZGPAT	84619	broad.mit.edu	37	chr20	62365995	62365995	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctgtccatctcttgcAgtggtggggtcggacgccgt	3	11	14	13	3	2	0	0	0	2	0	5	1	3	1	3	4	1	1	3	4	0	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:62365995A>C	ENST00000328969.5	+	5	998		c.e5-1		ZGPAT_ENST00000369967.3_Intron|ZGPAT_ENST00000478385.1_Intron|ZGPAT_ENST00000357119.4_Intron|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000355969.6_Intron|ZGPAT_ENST00000448100.2_Intron|RP4-583P15.15_ENST00000490623.2_Intron	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CATCTCTTGCAGTGGTGGGGT	0.622																																						uc002ygk.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.e5-2		Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.							149	142	145					20																	62365995		2203	4300	6503	SO:0001630	splice_region_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365995A>C	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.872-1A>C	20.37:g.62365995A>C						ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	p.V291_splice	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			5	1061	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		291					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Splice_Site	SNP	ENST00000328969.5	37	c.872_splice	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	6.612	0.481355	0.12581	.	.	ENSG00000197114	ENST00000328969	.	.	.	2.77	-2.33	0.06724	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1835	0.00126	0.3158:0.275:0.167:0.2421	.	.	.	.	.	-1	.	.	.	+	.	.	ZGPAT	61836439	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-1.356000	0.02609	-0.199000	0.10317	0.460000	0.39030	.		0.622	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	Intron	C	62365995	A	C	62365995	5	2	191	1	0	0	0	0	0	0	1	0	17671	202	7	5	884	5	ZGPAT	20	62365995	Splice_Site	SNP	A	TCGA-27-2518-01A-01D-1494-08	11958486	62365995	659525	58	13527											
NRIP1	8204	broad.mit.edu	37	chr21	16339283	16339283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattcatcaatagttgtagGtgtactactttcctcaaaaa	14	15	5	7	0	3	0	3	0	0	0	4	0	4	0	1	1	2	3	1	1	8	8			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr21:16339283G>T	ENST00000400202.1	-	3	1943	c.1231C>A	c.(1231-1233)Cct>Act	p.P411T	NRIP1_ENST00000400199.1_Missense_Mutation_p.P411T|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.P411T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	411	Interaction with ZNF366.|Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATAGTTGTAGGTGTACTACTT	0.373																																						uc021whl.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1231-1233)Cct>Act		Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.							187	177	181					21																	16339283		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339283G>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1231C>A	21.37:g.16339283G>T	ENSP00000383063:p.Pro411Thr					NRIP1_uc002yjx.2_Missense_Mutation_p.P411T	p.P411T	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	0	1231	-			411			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1231C>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363680	0.41902	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.30981	1.51;1.51;1.51	5.69	5.69	0.88448	.	0.198917	0.44285	D	0.000464	T	0.43366	0.1244	L	0.53249	1.67	0.48696	D	0.999691	P	0.49783	0.928	P	0.49226	0.603	T	0.28427	-1.0044	10	0.72032	D	0.01	-20.0803	20.2726	0.98481	0.0:0.0:1.0:0.0	.	411	P48552	NRIP1_HUMAN	T	411	ENSP00000383060:P411T;ENSP00000383063:P411T;ENSP00000327213:P411T	ENSP00000327213:P411T	P	-	1	0	NRIP1	15261154	1.000000	0.71417	0.755000	0.31263	0.651000	0.38670	6.526000	0.73799	2.875000	0.98604	0.644000	0.83932	CCT		0.373	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		T	16339283	G	T	16339283	3	4	191	1	0	0	0	0	1	0	0	0	10652	1261	44	5	2249	5	NRIP1	21	16339283	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		16339283	31790612	59	13528											
TUBA8	51807	broad.mit.edu	37	chr22	18609536	18609536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctggtgccctacccccGcatccacttcccgctggtca	6	8	7	20	2	1	0	1	0	0	0	3	0	3	0	6	2	3	2	6	2	2	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:18609536G>A	ENST00000330423.3	+	4	864	c.791G>A	c.(790-792)cGc>cAc	p.R264H	TUBA8_ENST00000316027.6_Missense_Mutation_p.R198H	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	264					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCCTACCCCCGCATCCACTTC	0.567																																						uc002znw.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(862-864)cGc>cAc		Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.							104	87	93					22																	18609536		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609536G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.791G>A	22.37:g.18609536G>A	ENSP00000333326:p.Arg264His					TUBA8_uc002znv.2_Missense_Mutation_p.R264H|TUBA8_uc021wkt.1_Missense_Mutation_p.R198H	p.R288H	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN			2	1160	+			264					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.863G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.623495	0.66901	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84589	-1.87;-1.87;-1.87	5.67	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.88310	2.945	0.58432	D	0.999999	P;P;D	0.89917	0.459;0.683;1.0	B;B;D	0.74674	0.184;0.271;0.984	D	0.94023	0.7294	10	0.72032	D	0.01	.	13.8951	0.63766	0.0732:0.0:0.9268:0.0	.	198;288;264	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	H	198;264;288	ENSP00000318575:R198H;ENSP00000333326:R264H;ENSP00000412646:R288H	ENSP00000318575:R198H	R	+	2	0	TUBA8	16989536	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.537000	0.49254	0.655000	0.94253	CGC		0.567	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		A	18609536	G	A	18609536	3	1	191	1	0	0	0	0	1	0	0	0	16747	1087	38	1	805	1	TUBA8	22	18609536	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		18609536	32695030	60	13529											
SCUBE1	80274	broad.mit.edu	37	chr22	43600126	43600126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggggatgcgccagcacGtcgaagagggccttgatcag	8	8	15	10	3	2	2	1	1	1	1	3	4	2	3	2	3	2	1	2	3	1	2	rs140846155	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:43600126G>A	ENST00000360835.4	-	22	2970	c.2844C>T	c.(2842-2844)gaC>gaT	p.D948D		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	948					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCGCCAGCACGTCGAAGAGGG	0.572													G|||	11	0.00219649	8e-04	0	5008	,	,		15763	0		0.003	False		,,,				2504	0.0072					uc003bdt.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2842-2844)gaC>gaT		Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.		G		2,4404	6.2+/-15.9	0,2,2201	147	132	137		2844	-3.2	0.9	22	dbSNP_134	137	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	SCUBE1	NM_173050.3		0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615		948/989	43600126	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43600126G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2844C>T	22.37:g.43600126G>A							p.D948D	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			21	2971	-		all_neural(38;0.0414)|Ovarian(80;0.07)	948					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2844C>T	CCDS14048.1																																																																																				0.572	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		A	43600126	G	A	43600126	2	1	191	1	0	0	0	0	0	0	0	1	13944	1136	40	1		1	SCUBE1	22	43600126	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	24990590	43600126	7704440	61	13530											
RAB9A	9367	broad.mit.edu	37	chrX	13727279	13727279	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgtctacagaagaagcCcaagcttggtgcagggacaa	13	6	13	9	0	1	2	0	0	1	2	1	3	1	3	1	3	4	2	1	3	5	2	rs146572677	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chrX:13727279C>G	ENST00000464506.1	+	3	693	c.414C>G	c.(412-414)gcC>gcG	p.A138A	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	138					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CAGAAGAAGCCCAAGCTTGGT	0.458																																						uc022bte.1																			0		p.A138V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(412-414)gcC>gcG		Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.		C	,	0,3835		0,0,0,1632,571	103	103	103		414,414	-0.6	1	X	dbSNP_134	103	13,6715		0,9,4,2419,1868	no	coding-synonymous,coding-synonymous	RAB9A	NM_001195328.1,NM_004251.4	,	0,9,4,4051,2439	GG,GC,G,CC,C		0.1932,0.0,0.1231	,	138/202,138/202	13727279	13,10550	2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727279C>G	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"RAB, member RAS oncogene"	9792	protein-coding gene	gene with protein product		300284	"RAB9, member RAS oncogene family"	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.414C>G	X.37:g.13727279C>G						RAB9A_uc004cvm.3_Silent_p.A138A|RAB9A_uc010neh.3_Silent_p.A138A	p.A138A	NM_004251	NP_004242	P51151	RAB9A_HUMAN			0	414	+			138					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.414C>G	CCDS14156.1																																																																																				0.458	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		G	13727279	C	G	13727279	2	3	191	1	0	0	0	0	0	0	0	1	12958	610	22	5		5	RAB9A	23	13727279	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		13727279	141543281	62	13531											
CHD5	26038	broad.mit.edu	37	chr1	6172293	6172293	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttcctctttgtcaccatTttgctgtgtttcaatgggct	5	19	7	10	0	4	0	2	0	2	0	5	0	5	0	2	1	1	3	2	1	1	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:6172293T>G	ENST00000262450.3	-	35	5146	c.5047A>C	c.(5047-5049)Aat>Cat	p.N1683H	CHD5_ENST00000378021.1_Missense_Mutation_p.N540H	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTCACCATTTTGCTGTGTT	0.512																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5047-5049)Aat>Cat		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							268	219	236					1																	6172293		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6172293T>G	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5047A>C	1.37:g.6172293T>G	ENSP00000262450:p.Asn1683His					CHD5_uc001alz.2_Missense_Mutation_p.N540H|CHD5_uc001ama.2_Non-coding_Transcript	p.N1683H	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5158	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1683					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5047A>C	CCDS57.1	.	.	.	.	.	.	.	.	.	.	t	24.8	4.565722	0.86439	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91351	-2.83;2.13	4.3	4.3	0.51218	.	0.067807	0.56097	D	0.000025	D	0.86560	0.5962	L	0.29908	0.895	0.49483	D	0.999796	D;P	0.56968	0.978;0.769	P;B	0.45881	0.496;0.332	D	0.87015	0.2125	10	0.46703	T	0.11	-20.7673	13.7608	0.62966	0.0:0.0:0.0:1.0	.	1683;540	Q8TDI0;Q5TG85	CHD5_HUMAN;.	H	1683;540;540	ENSP00000262450:N1683H;ENSP00000367260:N540H	ENSP00000262450:N1683H	N	-	1	0	CHD5	6094880	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.513000	0.81739	1.719000	0.51432	0.482000	0.46254	AAT		0.512	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		G	6172293	T	G	6172293	3	3	192	1	0	0	0	0	1	0	0	0	3328	1841	64	5	845	5	CHD5	1	6172293	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08		6172293	243078328	1	13532											
AIM1L	55057	broad.mit.edu	37	chr1	26658052	26658052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgagagtggggaactcGccctcagagagaatgtgctg	9	7	16	9	2	1	3	1	1	0	3	2	6	1	4	2	2	2	1	2	2	2	0			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:26658052G>A	ENST00000308182.5	-	14	1536	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	AIM1L_ENST00000527815.1_Silent_p.G540G			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	369	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567																																						uc001bmd.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(4240-4242)ggC>ggT		Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.							116	96	102					1																	26658052		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26658052G>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1107C>T	1.37:g.26658052G>A							p.G1414G	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	14	4392	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	369					B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.4242C>T																																																																																					0.567	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		A	26658052	G	A	26658052	2	1	192	1	0	0	0	0	0	0	0	1	431	1074	38	1		1	AIM1L	1	26658052	Silent	SNP	G	TCGA-27-2519-01A-01D-1494-08	20485759	26658052	222592569	2	13533											
WDR65	149465	broad.mit.edu	37	chr1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtctagctacctgcatccGcaaaccccttatagccacct	9	9	6	17	2	1	0	0	0	1	0	2	0	2	0	6	1	5	3	6	1	5	4	rs372200685		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458																																						uc021omk.1																			1	Substitution - Missense(1)	p.R400H(2)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1198-1200)cGc>cAc		Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	180	153	162		1199,1199,1199	5.8	1	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/699,400/699,400/699	43663300	1,13005	2203	4300	6503	SO:0001583	missense	149465							g.chr1:43663300G>A																												ENST00000372492.4:c.1199G>A	1.37:g.43663300G>A	ENSP00000361570:p.Arg400His					EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R389H|WDR65_uc001ciq.2_Missense_Mutation_p.R400H|WDR65_uc001cip.2_Missense_Mutation_p.R400H	p.R400H	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN			6	1345	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	400					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.497360	0.96355	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.39997	1.05;3.58	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.75085	2.285	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.57400	-0.7818	10	0.15499	T	0.54	.	19.9634	0.97258	0.0:0.0:1.0:0.0	.	400;400	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	400	ENSP00000361570:R400H;ENSP00000435310:R400H	ENSP00000361570:R400H	R	+	2	0	WDR65	43435887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.209000	0.95087	2.721000	0.93114	0.563000	0.77884	CGC		0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			A	43663300	G	A	43663300	3	1	192	1	0	0	0	0	1	0	0	0	17313	1087	38	1	1221	1	WDR65	1	43663300	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	17005248	43663300	205587321	3	13534											
PTPRF	5792	broad.mit.edu	37	chr1	44069848	44069848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatccagtcccggaccatgCcggtggagcaaggtgtgtgc	7	7	15	12	2	0	0	0	0	0	0	2	2	2	2	4	4	3	2	4	4	1	0			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:44069848C>T	ENST00000359947.4	+	16	3365	c.3025C>T	c.(3025-3027)Ccg>Tcg	p.P1009S	PTPRF_ENST00000438120.1_Missense_Mutation_p.P1000S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P1009S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1000S|PTPRF_ENST00000422171.2_Missense_Mutation_p.P357S|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGACCATGCCGGTGGAGCA	0.617																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3025-3027)Ccg>Tcg		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							66	61	63					1																	44069848		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069848C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3025C>T	1.37:g.44069848C>T	ENSP00000353030:p.Pro1009Ser					PTPRF_uc001cjs.3_Missense_Mutation_p.P1000S|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.P569S|PTPRF_uc001cjv.3_Missense_Mutation_p.P469S|PTPRF_uc001cjw.3_Missense_Mutation_p.P235S	p.P1009S	NM_002840	NP_002831	P10586	PTPRF_HUMAN			15	3365	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1009					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3025C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148183|2.148183	0.37923|0.37923	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.58210	.|0.35;0.37;0.35;0.37;2.25	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Fibronectin, type III (1);	.|0.000000	.|0.34002	.|N	.|0.004350	T|T	0.49474|0.49474	0.1559|0.1559	N|N	0.03268|0.03268	-0.37|-0.37	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;D;B	.|0.67145	.|0.008;0.038;0.996;0.034	.|B;B;D;B	.|0.78314	.|0.013;0.01;0.991;0.021	T|T	0.53899|0.53899	-0.8373|-0.8373	5|10	.|0.15952	.|T	.|0.53	.|.	18.5158|18.5158	0.90935|0.90935	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|654;357;1000;1009	.|Q59FI2;F2Z3B8;P10586-2;P10586	.|.;.;.;PTPRF_HUMAN	V|S	422|1009;1000;1009;1000;357	.|ENSP00000353030:P1009S;ENSP00000398822:P1000S;ENSP00000361491:P1009S;ENSP00000361490:P1000S;ENSP00000387885:P357S	.|ENSP00000353030:P1009S	A|P	+|+	2|1	0|0	PTPRF|PTPRF	43842435|43842435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	1.871000|1.871000	0.39539|0.39539	2.429000|2.429000	0.82318|0.82318	0.563000|0.563000	0.77884|0.77884	GCC|CCG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44069848	C	T	44069848	3	4	192	1	0	0	0	0	1	0	0	0	12801	739	26	3	3079	3	PTPRF	1	44069848	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	406548	44069848	205180773	4	13535											
TCHH	7062	broad.mit.edu	37	chr1	152080572	152080572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcctggaggaatttTctctctcgttcctgacggcg	4	15	10	12	3	2	1	0	1	2	0	7	3	5	3	3	3	0	2	3	3	1	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152080572T>A	ENST00000368804.1	-	2	5120	c.5121A>T	c.(5119-5121)agA>agT	p.R1707S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1707	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAATTTTCTCTCTCGTT	0.587																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5119-5121)agA>agT		Homo sapiens trichohyalin (TCHH), mRNA.							68	67	67					1																	152080572		1880	4119	5999	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080572T>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5121A>T	1.37:g.152080572T>A	ENSP00000357794:p.Arg1707Ser					TCHH_uc001ezp.2_Missense_Mutation_p.R1707S	p.R1707S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5393	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1707			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5121A>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	7.825	0.718523	0.15372	.	.	ENSG00000159450	ENST00000368804	T	0.05258	3.47	2.77	-1.83	0.07833	.	.	.	.	.	T	0.01800	0.0057	L	0.61218	1.895	0.09310	N	1	P	0.42827	0.791	B	0.32393	0.145	T	0.40136	-0.9579	9	0.66056	D	0.02	.	4.0162	0.09646	0.0:0.2477:0.3609:0.3914	.	1707	Q07283	TRHY_HUMAN	S	1707	ENSP00000357794:R1707S	ENSP00000357794:R1707S	R	-	3	2	TCHH	150347196	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-0.212000	0.10109	0.378000	0.23410	AGA		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		A	152080572	T	A	152080572	3	1	192	1	0	0	0	0	1	0	0	0	15697	1780	62	5	714	5	TCHH	1	152080572	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	108010724	152080572	97170049	5	13536											
TCHH	7062	broad.mit.edu	37	chr1	152081047	152081047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtcacggtcctgacgcCgctgttgcccgcgctcctgg	2	11	12	16	5	2	1	1	1	1	0	4	1	4	1	4	2	1	3	4	2	0	2	rs181128140	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152081047C>T	ENST00000368804.1	-	2	4645	c.4646G>A	c.(4645-4647)cGg>cAg	p.R1549Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1549	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACGCCGCTGTTGCCC	0.607																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4645-4647)cGg>cAg		Homo sapiens trichohyalin (TCHH), mRNA.							52	53	53					1																	152081047		1878	4099	5977	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081047C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4646G>A	1.37:g.152081047C>T	ENSP00000357794:p.Arg1549Gln					TCHH_uc001ezp.2_Missense_Mutation_p.R1549Q	p.R1549Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4918	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1549			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4646G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	10.97	1.502225	0.26949	.	.	ENSG00000159450	ENST00000368804	T	0.07444	3.19	3.27	-5.74	0.02391	.	.	.	.	.	T	0.01800	0.0057	L	0.48642	1.525	0.09310	N	1	B	0.24258	0.1	B	0.15052	0.012	T	0.44742	-0.9308	9	0.12766	T	0.61	.	11.1139	0.48249	0.1914:0.6894:0.0:0.1192	.	1549	Q07283	TRHY_HUMAN	Q	1549	ENSP00000357794:R1549Q	ENSP00000357794:R1549Q	R	-	2	0	TCHH	150347671	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.595000	0.02093	-1.107000	0.03004	-1.382000	0.01172	CGG		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081047	C	T	152081047	3	4	192	1	0	0	0	0	1	0	0	0	15697	652	23	2	1189	2	TCHH	1	152081047	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	475	152081047	97169574	6	13537											
OR2M2	391194	broad.mit.edu	37	chr1	248344068	248344068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcactcc	9	12	6	14	1	3	1	2	1	1	0	4	1	4	1	2	1	3	3	2	1	2	4	rs150685608		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:248344068C>T	ENST00000359682.2	+	1	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.517																																						uc010pzf.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(781-783)Cgg>Tgg		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.		C	TRP/ARG	0,4406		0,0,2203	223	198	207		781	-0.5	0	1	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2M2	NM_001004688.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	261/348	248344068	1,13005	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344068C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.781C>T	1.37:g.248344068C>T	ENSP00000352710:p.Arg261Trp						p.R261W	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	781	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.781C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	5.583	0.292304	0.10567	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.37915	1.17	2.03	-0.471	0.12119	GPCR, rhodopsin-like superfamily (1);	0.786555	0.09970	U	0.732317	T	0.40247	0.1109	M	0.84773	2.715	0.09310	N	1	B	0.25351	0.124	B	0.27170	0.077	T	0.43360	-0.9396	10	0.51188	T	0.08	.	5.9568	0.19277	0.5965:0.246:0.1574:0.0	.	261	Q96R28	OR2M2_HUMAN	W	261	ENSP00000352710:R261W	ENSP00000352710:R261W	R	+	1	2	OR2M2	246410691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.955000	0.01523	-0.254000	0.09500	-0.552000	0.04208	CGG		0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		T	248344068	C	T	248344068	3	4	192	1	0	0	0	0	1	0	0	0	11010	527	19	1	783	1	OR2M2	1	248344068	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	96263021	248344068	906553	7	13538											
C2orf89	129293	broad.mit.edu	37	chr2	85051138	85051138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggcctccgctgtgaccGcctccgcttcttccggaacc	3	9	10	19	6	1	1	0	1	1	0	5	2	4	2	7	2	1	2	7	2	1	2	rs202220791		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:85051138G>A	ENST00000409520.2	-	6	1315	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R376W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	425					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CGCTGTGACCGCCTCCGCTTC	0.652																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1273-1275)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							36	41	39					2																	85051138		2199	4300	6499	SO:0001583	missense	129293					integral to membrane		g.chr2:85051138G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1273C>T	2.37:g.85051138G>A	ENSP00000387075:p.Arg425Trp					C2orf89_uc002sou.4_Missense_Mutation_p.R376W	p.R425W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1362	-			425					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1273C>T		.	.	.	.	.	.	.	.	.	.	g	11.11	1.543208	0.27563	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.31769	1.48;1.59	3.8	-7.6	0.01303	.	1.058870	0.07577	N	0.919681	T	0.15392	0.0371	.	.	.	0.09310	N	1	B;B	0.15930	0.0;0.015	B;B	0.10450	0.0;0.005	T	0.31364	-0.9946	9	0.87932	D	0	.	0.3013	0.00273	0.3434:0.211:0.135:0.3106	.	425;376	Q86V40;Q86V40-2	CB089_HUMAN;.	W	376;425	ENSP00000335004:R376W;ENSP00000387075:R425W	ENSP00000335004:R376W	R	-	1	2	C2orf89	84904649	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.505000	0.00448	-2.124000	0.00822	0.444000	0.29173	CGG		0.652	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		A	85051138	G	A	85051138	3	1	192	1	0	0	0	0	1	0	0	0	2203	1086	38	1	252	1	C2orf89	2	85051138	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		85051138	158148235	8	13539											
SCN9A	6335	broad.mit.edu	37	chr2	167055444	167055444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttgccttaagcggtaaCgtctataagcacgctgaatg	11	12	9	9	3	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	5	6	rs180949263		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:167055444C>T	ENST00000409435.1	-	26	5704	c.5705G>A	c.(5704-5706)cGt>cAt	p.R1902H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1903H|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1891H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1903H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1902	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGCGGTAACGTCTATAAGC	0.363													C|||	1	0.000199681	0	0	5008	,	,		21772	0.001		0	False		,,,				2504	0					uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5671-5673)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						165	171	169					2																	167055444		2161	4280	6441	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055444C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5705G>A	2.37:g.167055444C>T	ENSP00000386330:p.Arg1902His					BC051759_uc002udp.3_Intron	p.R1891H	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	6013	-			1902			IQ.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5672G>A	CCDS46441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.22	1.290119	0.23478	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96427	-3.99;-4.01;-4.01;-4.01	6.08	3.34	0.38264	.	0.183937	0.39544	N	0.001334	D	0.92499	0.7618	L	0.38175	1.15	0.40061	D	0.975899	B	0.16396	0.017	B	0.14578	0.011	D	0.89146	0.3520	10	0.56958	D	0.05	.	10.3652	0.44019	0.0:0.7962:0.0:0.2038	.	1891	E7EUN6	.	H	1891;1903;1903;1902	ENSP00000386306:R1891H;ENSP00000364536:R1903H;ENSP00000304748:R1903H;ENSP00000386330:R1902H	ENSP00000304748:R1903H	R	-	2	0	SCN9A	166763690	0.000000	0.05858	0.998000	0.56505	0.610000	0.37248	-0.006000	0.12833	0.928000	0.37168	-0.186000	0.12905	CGT		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167055444	C	T	167055444	3	4	192	1	0	0	0	0	1	0	0	0	13925	536	19	1	265	1	SCN9A	2	167055444	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	82004306	167055444	76143929	9	13540											
PDE1A	5136	broad.mit.edu	37	chr2	183066517	183066517	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactaggttccgaagatccCtgcagagtcaccaaaaggag	13	7	10	11	1	2	2	2	0	0	2	4	4	4	3	3	2	1	2	3	2	4	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:183066517C>G	ENST00000410103.1	-	10	1034		c.e10-1		PDE1A_ENST00000409365.1_Splice_Site|PDE1A_ENST00000456212.1_Splice_Site|PDE1A_ENST00000331935.6_Splice_Site|PDE1A_ENST00000536095.1_Splice_Site|PDE1A_ENST00000435564.1_Splice_Site|PDE1A_ENST00000358139.2_Splice_Site|PDE1A_ENST00000346717.4_Splice_Site|PDE1A_ENST00000351439.5_Splice_Site	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCGAAGATCCCTGCAGAGTCA	0.363																																						uc002uos.3																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.e10-1		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.							67	66	66					2																	183066517		2203	4300	6503	SO:0001630	splice_region_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183066517C>G		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.951-1G>C	2.37:g.183066517C>G						PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice	p.R317_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		10	1035	-			317			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Splice_Site	SNP	ENST00000410103.1	37	c.951_splice	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337114	0.41398	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.76	0.88462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1A	182774762	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	7.550000	0.82173	2.487000	0.83934	0.655000	0.94253	.		0.363	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		Intron	G	183066517	C	G	183066517	5	3	192	1	0	0	0	0	0	0	1	0	11633	695	24	5	759	5	PDE1A	2	183066517	Splice_Site	SNP	C	TCGA-27-2519-01A-01D-1494-08	16011073	183066517	60132856	10	13541											
PASK	23178	broad.mit.edu	37	chr2	242054741	242054741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccctggatagaattgCgatctctaaagtaactttcc	11	12	6	12	1	1	1	0	0	1	1	4	3	3	2	3	1	2	1	3	1	5	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:242054741C>T	ENST00000405260.1	-	13	3858	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	PASK_ENST00000539818.1_Missense_Mutation_p.A838T|PASK_ENST00000358649.4_Missense_Mutation_p.A1054T|PASK_ENST00000403638.3_Missense_Mutation_p.A1054T|PASK_ENST00000234040.4_Missense_Mutation_p.A1054T|PASK_ENST00000544142.1_Missense_Mutation_p.A868T|PASK_ENST00000475666.1_5'Flank	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATAGAATTGCGATCTCTAAA	0.433																																						uc002wao.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3160-3162)Gca>Aca		Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.							173	157	163					2																	242054741		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242054741C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3160G>A	2.37:g.242054741C>T	ENSP00000384016:p.Ala1054Thr					PASK_uc010zol.2_Missense_Mutation_p.A868T|PASK_uc010zom.2_Missense_Mutation_p.A1019T|PASK_uc010fzl.2_Missense_Mutation_p.A1054T|PASK_uc010zon.2_Missense_Mutation_p.A835T|PASK_uc021vzf.1_Missense_Mutation_p.A1054T|PASK_uc002wap.3_Missense_Mutation_p.A597T|PASK_uc002waq.3_Missense_Mutation_p.A1054T	p.A1054T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	12	3293	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1054			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3160G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772327	0.49680	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.39	1.17	0.20885	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.596397	0.14718	N	0.302501	T	0.52917	0.1764	L	0.31578	0.945	0.35897	D	0.830111	P;P;P;D;P	0.65815	0.952;0.941;0.941;0.995;0.952	P;B;B;P;P	0.46850	0.477;0.346;0.346;0.529;0.477	T	0.60786	-0.7194	10	0.59425	D	0.04	.	11.0702	0.47999	0.4718:0.4136:0.1147:0.0	.	1019;868;1054;1054;1054	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	T	1054;868;1054;1054;838;1054	ENSP00000234040:A1054T;ENSP00000441374:A868T;ENSP00000384016:A1054T;ENSP00000351475:A1054T;ENSP00000443083:A838T;ENSP00000384438:A1054T	ENSP00000234040:A1054T	A	-	1	0	PASK	241703414	0.970000	0.33590	0.090000	0.20809	0.591000	0.36615	2.282000	0.43461	0.208000	0.20626	0.563000	0.77884	GCA		0.433	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242054741	C	T	242054741	3	4	192	1	0	0	0	0	1	0	0	0	11472	768	27	1	835	1	PASK	2	242054741	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	58988224	242054741	1144632	11	13542											
OR5H6	79295	broad.mit.edu	37	chr3	97983628	97983628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attagtcttgtcatttatagGtggccttcttcatgctttaa	8	19	7	7	0	4	0	2	0	2	0	4	0	4	0	1	2	1	1	1	2	4	9			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr3:97983628G>C	ENST00000383696.2	+	1	541	c.500G>C	c.(499-501)gGt>gCt	p.G167A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCATTTATAGGTGGCCTTCTT	0.348																																						uc003dsi.1																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(499-501)gGt>gCt		Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.							99	95	96					3																	97983628		2203	4298	6501	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983628G>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.500G>C	3.37:g.97983628G>C	ENSP00000373196:p.Gly167Ala						p.G167A	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			0	500	+			167					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.500G>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.256864	0.00265	.	.	ENSG00000230301	ENST00000383696	T	0.36340	1.26	2.19	-0.282	0.12878	GPCR, rhodopsin-like superfamily (1);	0.301640	0.24014	N	0.042356	T	0.20251	0.0487	N	0.13198	0.31	0.09310	N	1	B	0.22541	0.071	B	0.33690	0.168	T	0.33727	-0.9857	10	0.15952	T	0.53	.	9.2106	0.37316	0.0:0.4163:0.5837:0.0	.	167	Q8NGV6	OR5H6_HUMAN	A	167	ENSP00000373196:G167A	ENSP00000373196:G167A	G	+	2	0	OR5H6	99466318	0.048000	0.20356	0.009000	0.14445	0.031000	0.12232	0.606000	0.24194	0.217000	0.20800	0.194000	0.17425	GGT		0.348	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983628	G	C	97983628	3	2	192	1	0	0	0	0	1	0	0	0	11163	1261	44	5	502	5	OR5H6	3	97983628	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		97983628	100038802	12	13543											
REST	5978	broad.mit.edu	37	chr4	57797807	57797807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggacaaaacttgaataCgccagagggtgaaactttaa	15	9	9	8	1	1	3	0	2	1	1	1	4	1	4	1	2	3	0	1	2	6	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:57797807C>T	ENST00000309042.7	+	4	3097	c.2783C>T	c.(2782-2784)aCg>aTg	p.T928M		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	928					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTTGAATACGCCAGAGGGT	0.413																																						uc003hch.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2782-2784)aCg>aTg		Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.							62	61	61					4																	57797807		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797807C>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2783C>T	4.37:g.57797807C>T	ENSP00000311816:p.Thr928Met					REST_uc003hci.3_Missense_Mutation_p.T928M|REST_uc010ihf.3_Missense_Mutation_p.T602M	p.T928M	NM_005612	NP_005603	Q13127	REST_HUMAN			3	3130	+	Glioma(25;0.08)|all_neural(26;0.181)		928					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2783C>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333088	0.24167	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06933	3.24	5.91	-4.56	0.03431	.	1.276940	0.05315	N	0.525454	T	0.02012	0.0063	N	0.00538	-1.39	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.44483	-0.9325	10	0.28530	T	0.3	1.0816	4.6207	0.12449	0.1051:0.4592:0.1458:0.29	.	905;928	F8WAN5;Q13127	.;REST_HUMAN	M	928;905	ENSP00000311816:T928M	ENSP00000311816:T928M	T	+	2	0	REST	57492564	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.621000	0.05559	-0.345000	0.08325	-0.982000	0.02568	ACG		0.413	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		T	57797807	C	T	57797807	3	4	192	1	0	0	0	0	1	0	0	0	13234	536	19	1	2793	1	REST	4	57797807	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		57797807	133356469	13	13544											
NDST4	64579	broad.mit.edu	37	chr4	115997685	115997685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtacttggtaagctgtTctcattggctttatgaaaac	9	17	9	6	0	1	1	1	1	1	0	2	1	1	1	0	2	3	5	0	2	5	8			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:115997685T>A	ENST00000264363.2	-	2	1186	c.508A>T	c.(508-510)Aac>Tac	p.N170Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	170	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTAAGCTGTTCTCATTGGCT	0.368																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(508-510)Aac>Tac		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							71	72	72					4																	115997685		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997685T>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.508A>T	4.37:g.115997685T>A	ENSP00000264363:p.Asn170Tyr					NDST4_uc010imw.3_Intron	p.N170Y	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	1	1187	-		Ovarian(17;0.156)	170			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.508A>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195978	0.58126	.	.	ENSG00000138653	ENST00000264363	T	0.40476	1.03	5.25	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.81239	2.535	0.58432	D	0.999993	B	0.28783	0.222	B	0.35899	0.213	T	0.50074	-0.8870	10	0.51188	T	0.08	.	12.2364	0.54518	0.0:0.0:0.1426:0.8574	.	170	Q9H3R1	NDST4_HUMAN	Y	170	ENSP00000264363:N170Y	ENSP00000264363:N170Y	N	-	1	0	NDST4	116217134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.238000	0.72350	0.804000	0.34136	0.482000	0.46254	AAC		0.368	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115997685	T	A	115997685	3	1	192	1	0	0	0	0	1	0	0	0	10258	1783	62	5	2162	5	NDST4	4	115997685	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	58199878	115997685	75156591	14	13545											
KLKB1	3818	broad.mit.edu	37	chr4	187173239	187173239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggagagtggccctggCaggtgagcctgcaggtgaag	7	7	19	8	0	0	3	0	2	0	1	0	4	0	3	2	6	2	2	2	6	1	1	rs61733605		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:187173239C>A	ENST00000264690.6	+	11	1400	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	KLKB1_ENST00000513864.1_Missense_Mutation_p.Q405K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	405	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTGGCCCTGGCAGGTGAGCCT	0.542																																						uc003iyy.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1213-1215)Cag>Aag		Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.							92	87	89					4																	187173239		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173239C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1213C>A	4.37:g.187173239C>A	ENSP00000264690:p.Gln405Lys					KLKB1_uc011clc.2_Missense_Mutation_p.Q203K|KLKB1_uc011cld.2_Missense_Mutation_p.Q367K	p.Q405K	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	10	1284	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	405			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1213C>A	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	c	33	5.285383	0.95517	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.90732	-2.72;-2.72	5.58	5.58	0.84498	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.082046	0.52532	D	0.000070	D	0.97071	0.9043	H	0.95294	3.65	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.97654	1.0156	10	0.87932	D	0	.	19.9477	0.97189	0.0:1.0:0.0:0.0	.	367;405;405	E7EQA8;A8K9A9;P03952	.;.;KLKB1_HUMAN	K	405;405;367	ENSP00000264690:Q405K;ENSP00000424469:Q405K	ENSP00000264690:Q405K	Q	+	1	0	KLKB1	187410233	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.028000	0.70889	2.793000	0.96121	0.645000	0.84053	CAG		0.542	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		A	187173239	C	A	187173239	3	1	192	1	0	0	0	0	1	0	0	0	8412	711	25	5	1251	5	KLKB1	4	187173239	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	71175554	187173239	3981037	15	13546											
RAB3C	115827	broad.mit.edu	37	chr5	57913622	57913622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcctttacatctgcattCgtcagcacagttgggatcga	9	12	9	11	2	2	0	1	0	1	0	5	3	3	1	1	1	3	3	1	1	1	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:57913622C>T	ENST00000282878.4	+	2	346	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	59					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATCTGCATTCGTCAGCACAG	0.383																																						uc003jrp.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(175-177)ttC>ttT		Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.							71	65	67					5																	57913622		2203	4299	6502	SO:0001819	synonymous_variant	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913622C>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.177C>T	5.37:g.57913622C>T							p.F59F	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	1	274	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	59						Silent	SNP	ENST00000282878.4	37	c.177C>T	CCDS3976.1																																																																																				0.383	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		T	57913622	C	T	57913622	2	4	192	1	0	0	0	0	0	0	0	1	12933	883	31	2		2	RAB3C	5	57913622	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		57913622	123001638	16	13547											
MAP1B	4131	broad.mit.edu	37	chr5	71493036	71493036	+	Frame_Shift_Del	DEL	A	A	-																															cttctctctgacgcccaatgAgattaaagtctctgcagagg																										TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:71493036delA	ENST00000296755.7	+	5	4152	c.3854delA	c.(3853-3855)gagfs	p.E1285fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1285					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACGCCCAATGAGATTAAAGTC	0.527																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3853-3855)gagfs		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							55	54	54					5																	71493036		2203	4300	6503	SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493036delA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3854delA	5.37:g.71493036delA	ENSP00000296755:p.Glu1285fs					MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs	p.E1285fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	4095	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1285					A2BDK5	Frame_Shift_Del	DEL	ENST00000296755.7	37	c.3854delA	CCDS4012.1																																																																																				0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		-	71493036	A	-	71493036	7	5	192	1	0	1	0	1	0	0	0	0	9228	304	11	0	3872	0	MAP1B	5	71493036	Frame_Shift_Del	DEL	A	TCGA-27-2519-01A-01D-1494-08	13579414	71493036	109422224	17	13548											
SV2C	22987	broad.mit.edu	37	chr5	75428035	75428035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcgttttcagtgggccCttttcttcgtcctgggcatg	3	16	12	10	2	2	0	1	0	1	0	5	0	3	0	2	3	0	2	2	3	0	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:75428035C>A	ENST00000502798.2	+	2	902	c.460C>A	c.(460-462)Ctt>Att	p.L154I	SV2C_ENST00000322285.7_Missense_Mutation_p.L154I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	154					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAGTGGGCCCTTTTCTTCGT	0.527																																						uc003kei.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(460-462)Ctt>Att		Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.							195	194	194					5																	75428035		2035	4179	6214	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428035C>A	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.460C>A	5.37:g.75428035C>A	ENSP00000423541:p.Leu154Ile						p.L154I	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	1	594	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	154					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.460C>A	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541723	0.85917	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.58210	0.35;0.35	5.9	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.134780	0.49916	D	0.000135	T	0.68513	0.3009	M	0.70595	2.14	0.80722	D	1	D	0.56521	0.976	D	0.63192	0.912	T	0.69472	-0.5136	10	0.54805	T	0.06	-16.4305	14.4897	0.67642	0.0:0.9301:0.0:0.0699	.	154	Q496J9	SV2C_HUMAN	I	154	ENSP00000423541:L154I;ENSP00000316983:L154I	ENSP00000316983:L154I	L	+	1	0	SV2C	75463791	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.948000	0.63590	2.806000	0.96561	0.655000	0.94253	CTT		0.527	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			A	75428035	C	A	75428035	3	1	192	1	0	0	0	0	1	0	0	0	15416	681	24	5	462	5	SV2C	5	75428035	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	3934999	75428035	105487225	18	13549											
GABRA1	2554	broad.mit.edu	37	chr5	161324208	161324208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttggccaggggcgaccCgggcttagccaccattgcta	8	9	12	12	2	0	0	0	0	0	0	0	1	0	0	4	4	2	2	4	4	3	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:161324208C>T	ENST00000428797.2	+	11	1506	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	GABRA1_ENST00000023897.6_Missense_Mutation_p.P384L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P384L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P384L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P384L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P384L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	384					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P384Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGGGCGACCCGGGCTTAGCC	0.458																																						uc010jiw.3																			1	Substitution - Missense(1)	p.P384Q(2)	lung(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1150-1152)cCg>cTg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						106	116	113					5																	161324208		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324208C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1151C>T	5.37:g.161324208C>T	ENSP00000393097:p.Pro384Leu					GABRA1_uc010jix.3_Missense_Mutation_p.P384L|GABRA1_uc010jiy.3_Missense_Mutation_p.P384L|GABRA1_uc003lyx.4_Missense_Mutation_p.P384L|GABRA1_uc010jiz.3_Missense_Mutation_p.P384L|GABRA1_uc010jja.3_Missense_Mutation_p.P384L|GABRA1_uc010jjb.3_Missense_Mutation_p.P384L	p.P384L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1619	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	384					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1151C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592291	0.66219	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.057504	0.64402	D	0.000001	T	0.79907	0.4527	L	0.41492	1.28	0.80722	D	1	P	0.50369	0.934	P	0.44561	0.453	T	0.76849	-0.2807	10	0.21014	T	0.42	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	384	P14867	GBRA1_HUMAN	L	384	ENSP00000023897:P384L;ENSP00000393097:P384L;ENSP00000377517:P384L;ENSP00000415441:P384L;ENSP00000408041:P384L;ENSP00000414232:P384L	ENSP00000023897:P384L	P	+	2	0	GABRA1	161256786	1.000000	0.71417	0.981000	0.43875	0.924000	0.55760	7.395000	0.79876	2.642000	0.89623	0.563000	0.77884	CCG		0.458	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		T	161324208	C	T	161324208	3	4	192	1	0	0	0	0	1	0	0	0	6160	652	23	2	1185	2	GABRA1	5	161324208	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	85896173	161324208	19591052	19	13550											
PKHD1	5314	broad.mit.edu	37	chr6	51910930	51910930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacctggatgtgaagtcatCggcattattctgtaagagct	10	13	11	7	1	2	2	1	1	1	1	3	3	2	3	1	2	2	4	1	2	4	4	rs370436973		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:51910930C>T	ENST00000371117.3	-	24	2739	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D822N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	822					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGAAGTCATCGGCATTATTC	0.443																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2464-2466)Gat>Aat		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	214	186	195		2464,2464	3.9	0	6		195	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	822/4075,822/3397	51910930	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51910930C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2464G>A	6.37:g.51910930C>T	ENSP00000360158:p.Asp822Asn					PKHD1_uc003pai.3_Missense_Mutation_p.D822N	p.D822N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			23	2740	-	Lung NSC(77;0.0605)		822					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2464G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791142	0.31685	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.05;-2.25	5.74	3.94	0.45596	.	0.293169	0.33092	N	0.005283	D	0.88104	0.6347	M	0.76838	2.35	0.09310	N	1	D;D	0.89917	1.0;1.0	D;P	0.66847	0.947;0.9	T	0.81169	-0.1055	10	0.39692	T	0.17	.	9.7785	0.40634	0.0:0.7825:0.1405:0.0771	.	822;822	P08F94-2;P08F94	.;PKHD1_HUMAN	N	822	ENSP00000360158:D822N;ENSP00000341097:D822N	ENSP00000341097:D822N	D	-	1	0	PKHD1	52018889	0.651000	0.27340	0.008000	0.14137	0.002000	0.02628	1.885000	0.39678	0.762000	0.33152	-0.224000	0.12420	GAT		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51910930	C	T	51910930	3	4	192	1	0	0	0	0	1	0	0	0	11971	884	31	2	9975	2	PKHD1	6	51910930	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		51910930	119204137	20	13551											
EZR	7430	broad.mit.edu	37	chr6	159192358	159192358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcaggcttcctgcggcGcatatacaactcatggttgc	7	11	12	11	2	2	0	2	0	0	0	3	0	3	0	1	4	4	3	1	4	3	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:159192358G>A	ENST00000367075.3	-	9	1045	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	EZR_ENST00000392177.4_Missense_Mutation_p.R261C|EZR_ENST00000337147.7_Missense_Mutation_p.R293C	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	293	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGCGGCGCATATACAAC	0.572			T	ROS1	NSCLC																																	uc003qrt.4				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(877-879)Cgc>Tgc		Homo sapiens ezrin (EZR), transcript variant 1, mRNA.							77	71	73					6																	159192358		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159192358G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.877C>T	6.37:g.159192358G>A	ENSP00000356042:p.Arg293Cys					EZR_uc011efr.2_5'Flank|EZR_uc011efs.2_Missense_Mutation_p.R261C|EZR_uc003qru.4_Missense_Mutation_p.R293C	p.R293C	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	7	1092	-		Breast(66;0.000776)|Ovarian(120;0.0303)	293			FERM.|Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.877C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868449	0.91587	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.29917	1.55;1.55;1.55	5.13	5.13	0.70059	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70974	-0.4726	10	0.87932	D	0	.	18.9615	0.92679	0.0:0.0:1.0:0.0	.	261;293	E7EQR4;P15311	.;EZRI_HUMAN	C	293;293;261	ENSP00000338934:R293C;ENSP00000356042:R293C;ENSP00000376016:R261C	ENSP00000338934:R293C	R	-	1	0	EZR	159112346	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.655000	0.74392	2.547000	0.85894	0.655000	0.94253	CGC		0.572	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		A	159192358	G	A	159192358	3	1	192	1	0	0	0	0	1	0	0	0	5335	1087	38	1	907	1	EZR	6	159192358	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	107281428	159192358	11922709	21	13552											
FAM126A	84668	broad.mit.edu	37	chr7	22985627	22985627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttgcttcctcctgaccGtctgtggttctttcctatac	4	18	7	12	1	2	1	0	1	2	0	5	1	5	1	4	1	2	3	4	1	2	7			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:22985627G>A	ENST00000432176.2	-	11	1379	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	383					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTCCTGACCGTCTGTGGTTC	0.438																																						uc003svm.4																			0		p.R383Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1147-1149)Cgg>Tgg		Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.							131	140	137					7																	22985627		2203	4300	6503	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985627G>A	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1147C>T	7.37:g.22985627G>A	ENSP00000403396:p.Arg383Trp					FAM126A_uc003svn.4_3'UTR	p.R383W	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			10	1402	-			383					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.1147C>T	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346850	0.61073	.	.	ENSG00000122591	ENST00000432176	T	0.79033	-1.23	6.17	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.60541	0.876	D	0.85101	0.0957	10	0.87932	D	0	-9.9236	12.7438	0.57268	0.0:0.0:0.4515:0.5485	.	383	Q9BYI3	HYCCI_HUMAN	W	383	ENSP00000403396:R383W	ENSP00000403396:R383W	R	-	1	2	FAM126A	22952152	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.553000	0.45837	1.607000	0.50170	-0.181000	0.13052	CGG		0.438	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		A	22985627	G	A	22985627	3	1	192	1	0	0	0	0	1	0	0	0	5429	1144	40	1	422	1	FAM126A	7	22985627	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		22985627	136153036	22	13553											
AMPH	273	broad.mit.edu	37	chr7	38516566	38516566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgcgcttggcgatgcGattctgtcaacaggaaatgc	8	10	12	11	3	2	0	1	0	1	0	2	3	2	1	1	2	5	2	1	2	2	2	rs370790138		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:38516566G>A	ENST00000356264.2	-	6	615	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_ENST00000325590.5_Missense_Mutation_p.R134C|AMPH_ENST00000428293.2_Missense_Mutation_p.R134C	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	134	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522																																						uc003tgu.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(400-402)Cgc>Tgc		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	103	89	94		400,400	5.5	1	7		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	134/696,134/654	38516566	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38516566G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.400C>T	7.37:g.38516566G>A	ENSP00000348602:p.Arg134Cys					AMPH_uc003tgv.3_Missense_Mutation_p.R134C	p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	616	-			134			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.400C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720993	0.89205	0.0	1.16E-4	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.64438	-0.1;-0.1;-0.1	5.52	5.52	0.82312	BAR (3);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72338	0.915;0.977	T	0.79500	-0.1778	10	0.52906	T	0.07	-11.6853	18.5675	0.91121	0.0:0.0:1.0:0.0	.	134;134	P49418-2;P49418	.;AMPH_HUMAN	C	134	ENSP00000317441:R134C;ENSP00000348602:R134C;ENSP00000390734:R134C	ENSP00000317441:R134C	R	-	1	0	AMPH	38483091	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.515000	0.90548	2.757000	0.94681	0.585000	0.79938	CGC		0.522	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		A	38516566	G	A	38516566	3	1	192	1	0	0	0	0	1	0	0	0	588	1058	37	2	1751	2	AMPH	7	38516566	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	15530939	38516566	120622097	23	13554											
ABCA13	154664	broad.mit.edu	37	chr7	48287865	48287865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcaagaggtcattacttgGcacaaaaatatgtcagtttt	13	14	8	6	0	2	1	2	0	0	1	2	1	2	1	0	2	2	3	0	2	5	6			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:48287865G>T	ENST00000435803.1	+	14	1713	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	563					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATTACTTGGCACAAAAATA	0.388																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1687-1689)tgG>tgT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							69	68	68					7																	48287865		1856	4090	5946	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48287865G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1689G>T	7.37:g.48287865G>T	ENSP00000411096:p.Trp563Cys					ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	p.W563C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			13	1713	+			563					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1689G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741407	0.30865	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	4.29	-3.36	0.04913	.	0.430664	0.19926	N	0.102969	T	0.68778	0.3038	N	0.14661	0.345	0.09310	N	1	P	0.43352	0.804	B	0.37780	0.258	T	0.65813	-0.6077	10	0.72032	D	0.01	.	4.7055	0.12848	0.465:0.313:0.222:0.0	.	563	Q86UQ4	ABCAD_HUMAN	C	563	ENSP00000411096:W563C	ENSP00000411096:W563C	W	+	3	0	ABCA13	48258411	0.648000	0.27313	0.000000	0.03702	0.321000	0.28281	0.430000	0.21428	-0.593000	0.05844	0.655000	0.94253	TGG		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48287865	G	T	48287865	3	4	192	1	0	0	0	0	1	0	0	0	31	1212	42	5	1572	5	ABCA13	7	48287865	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	9771299	48287865	110850798	24	13555											
TRPV6	55503	broad.mit.edu	37	chr7	142572296	142572296	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggaatcctcgggcgaagTacatgacgttgcaccagccc	9	8	11	13	3	1	1	0	1	1	0	3	3	2	2	3	2	3	3	3	2	3	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:142572296T>A	ENST00000359396.3	-	11	1645	c.1400A>T	c.(1399-1401)tAc>tTc	p.Y467F	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	467					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCGGGCGAAGTACATGACGTT	0.582																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1399-1401)tAc>tTc		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							129	119	123					7																	142572296		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572296T>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1400A>T	7.37:g.142572296T>A	ENSP00000352358:p.Tyr467Phe					TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	p.Y467F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			10	1629	-	Melanoma(164;0.059)		467					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1400A>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973212	0.53614	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85629	-2.01;-2.01	4.45	4.45	0.53987	Ion transport (1);	0.064020	0.64402	D	0.000004	D	0.82715	0.5097	L	0.56769	1.78	0.44834	D	0.997848	B	0.18741	0.03	B	0.35971	0.215	T	0.75456	-0.3311	10	0.19590	T	0.45	-21.1788	8.8652	0.35282	0.1669:0.0:0.0:0.8331	.	467	Q9H1D0	TRPV6_HUMAN	F	467;299;90	ENSP00000352358:Y467F;ENSP00000411100:Y90F	ENSP00000310825:Y299F	Y	-	2	0	TRPV6	142282418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.846000	0.62860	2.006000	0.58801	0.533000	0.62120	TAC		0.582	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		A	142572296	T	A	142572296	3	1	192	1	0	0	0	0	1	0	0	0	16597	1638	57	5	797	5	TRPV6	7	142572296	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	94284431	142572296	16566367	25	13556											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062310	144062310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcatagaccctcccaccGaaccacccccattgccccca	10	5	3	23	1	1	1	1	0	0	1	2	2	2	1	9	0	2	0	9	0	2	2	rs368131997		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:144062310G>A	ENST00000056217.5	+	2	2722	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	850					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCTCCCACCGAACCACCCCC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		34168	0		0	False		,,,				2504	0					uc003wel.3																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2548-2550)Gaa>Aaa		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.		G	LYS/GLU	3,4393		0,3,2195	24	30	28		2548	3.3	0.8	7		28	0,8572		0,0,4286	no	missense	ARHGEF5	NM_005435.3	56	0,3,6481	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	850/1598	144062310	3,12965	2198	4286	6484	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062310G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2548G>A	7.37:g.144062310G>A	ENSP00000056217:p.Glu850Lys					ARHGEF5_uc003wek.3_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.3_5'Flank	p.E850K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			1	2666	+	Melanoma(164;0.14)		850					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2548G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715977	0.30413	6.82E-4	0.0	ENSG00000050327	ENST00000056217	T	0.74421	-0.84	4.27	3.29	0.37713	.	0.240671	0.26149	N	0.026050	T	0.53899	0.1825	N	0.24115	0.695	0.80722	D	1	B	0.28082	0.2	B	0.20184	0.028	T	0.52653	-0.8547	10	0.33940	T	0.23	-10.1338	6.2516	0.20850	0.1408:0.0:0.8592:0.0	.	850	Q12774	ARHG5_HUMAN	K	850	ENSP00000056217:E850K	ENSP00000056217:E850K	E	+	1	0	ARHGEF5	143693243	0.166000	0.22962	0.839000	0.33178	0.016000	0.09150	1.385000	0.34408	2.222000	0.72286	0.555000	0.69702	GAA		0.587	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		A	144062310	G	A	144062310	3	1	192	1	0	0	0	0	1	0	0	0	909	1059	37	2	2550	2	ARHGEF5	7	144062310	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	1490014	144062310	15076353	26	13557											
ZNF786	136051	broad.mit.edu	37	chr7	148768162	148768162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttgccacactcccCgcacgagaacggcctctcct	8	6	8	19	3	1	1	0	0	1	1	3	3	2	1	6	1	3	1	6	1	2	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:148768162C>T	ENST00000491431.1	-	4	1766	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	ZNF786_ENST00000451334.3_Missense_Mutation_p.G531R|ZNF786_ENST00000316286.9_Missense_Mutation_p.G482R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632																																						uc003wfh.2																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1702-1704)Ggg>Agg		Homo sapiens zinc finger protein 786 (ZNF786), mRNA.							21	23	22					7																	148768162		2174	4291	6465	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768162C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1702G>A	7.37:g.148768162C>T	ENSP00000417470:p.Gly568Arg					ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	p.G568R	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1839	-	Melanoma(164;0.15)		568					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.1702G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246942	0.01481	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.03524	3.9;3.9;3.9	4.71	0.5	0.16919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.887930	0.09337	N	0.816057	T	0.02193	0.0068	N	0.11818	0.18	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.47045	-0.9147	10	0.37606	T	0.19	-13.5597	3.8993	0.09154	0.0:0.341:0.3816:0.2774	.	568	Q8N393	ZN786_HUMAN	R	482;568;531	ENSP00000313516:G482R;ENSP00000417470:G568R;ENSP00000404984:G531R	ENSP00000313516:G482R	G	-	1	0	ZNF786	148399095	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.862000	0.01653	0.213000	0.20722	-0.150000	0.13652	GGG		0.632	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		T	148768162	C	T	148768162	3	4	192	1	0	0	0	0	1	0	0	0	18155	652	23	2	650	2	ZNF786	7	148768162	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	4705852	148768162	10370501	27	13558											
HTR5A	3361	broad.mit.edu	37	chr7	154875908	154875908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatggtgttcacggtccGccacgccaccgtcaccttcc	6	8	9	18	4	2	1	2	0	0	1	4	1	4	1	7	2	0	1	7	2	0	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:154875908G>A	ENST00000287907.2	+	2	1361	c.785G>A	c.(784-786)cGc>cAc	p.R262H	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	262			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TTCACGGTCCGCCACGCCACC	0.607																																						uc003wlu.1																			0		p.R262C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(784-786)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.							73	61	65					7																	154875908		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875908G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.785G>A	7.37:g.154875908G>A	ENSP00000287907:p.Arg262His						p.R262H	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	849	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	262		R -> C (in a colorectal cancer sample; somatic mutation).			Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.785G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	g	13.97	2.396099	0.42512	.	.	ENSG00000157219	ENST00000287907	T	0.72167	-0.63	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.288709	0.31071	N	0.008320	T	0.72350	0.3449	M	0.76170	2.325	0.80722	D	1	B	0.14012	0.009	B	0.19148	0.024	T	0.70468	-0.4863	10	0.41790	T	0.15	.	18.0042	0.89205	0.0:0.0:1.0:0.0	.	262	P47898	5HT5A_HUMAN	H	262	ENSP00000287907:R262H	ENSP00000287907:R262H	R	+	2	0	HTR5A	154506841	1.000000	0.71417	0.707000	0.30419	0.194000	0.23727	9.421000	0.97455	2.239000	0.73571	0.609000	0.83330	CGC		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		A	154875908	G	A	154875908	3	1	192	1	0	0	0	0	1	0	0	0	7450	1087	38	1	791	1	HTR5A	7	154875908	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	6107746	154875908	4262755	28	13559											
TEX15	56154	broad.mit.edu	37	chr8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacattcattaacctgtcGtttgtactttaagaatacat	12	17	4	8	1	2	1	2	0	0	1	3	1	2	1	1	0	3	2	1	0	5	8			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:30701172G>A	ENST00000256246.2	-	1	5436	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1788					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(5362-5364)Cga>Tga		Homo sapiens testis expressed 15 (TEX15), mRNA.							75	68	71					8																	30701172		2203	4300	6503	SO:0001587	stop_gained	56154							g.chr8:30701172G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5362C>T	8.37:g.30701172G>A	ENSP00000256246:p.Arg1788*						p.R1788*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	5362	-			1788						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.5362C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	45	11.274584	0.99540	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.27	4.36	0.52297	.	0.000000	0.39909	N	0.001224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1394	0.53989	0.0:0.0:0.6965:0.3034	.	.	.	.	X	1788	.	ENSP00000256246:R1788X	R	-	1	2	TEX15	30820714	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.785000	0.47782	2.448000	0.82819	0.650000	0.86243	CGA		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30701172	G	A	30701172	4	1	192	1	0	0	0	0	0	1	0	0	15776	1153	40	1	3023	1	TEX15	8	30701172	Nonsense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		30701172	115662850	29	13560											
TRIM55	84675	broad.mit.edu	37	chr8	67040581	67040581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagaggaggtaccaccatgGcatcagggggccgattccgc	10	5	14	12	2	1	1	1	0	0	1	2	3	2	2	4	5	1	2	4	5	2	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:67040581G>T	ENST00000315962.4	+	2	584	c.211G>T	c.(211-213)Gca>Tca	p.A71S	TRIM55_ENST00000350034.4_Missense_Mutation_p.A71S|TRIM55_ENST00000353317.5_Missense_Mutation_p.A71S|TRIM55_ENST00000276573.7_Missense_Mutation_p.A71S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	71					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TACCACCATGGCATCAGGGGG	0.493																																						uc003xvv.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(211-213)Gca>Tca		Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.							128	128	128					8																	67040581		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040581G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.211G>T	8.37:g.67040581G>T	ENSP00000323913:p.Ala71Ser					TRIM55_uc003xvu.3_Missense_Mutation_p.A71S|TRIM55_uc003xvw.3_Missense_Mutation_p.A71S|TRIM55_uc003xvx.3_Missense_Mutation_p.A71S	p.A71S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	437	+		Lung NSC(129;0.138)|all_lung(136;0.221)	71					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.211G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226655	0.39300	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.38401	1.57;1.62;1.57;1.14	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.045908	0.85682	D	0.000000	T	0.23806	0.0576	N	0.04297	-0.235	0.42164	D	0.99161	B;B;B;B	0.18610	0.021;0.029;0.012;0.018	B;B;B;B	0.26416	0.039;0.039;0.069;0.022	T	0.09885	-1.0654	10	0.27785	T	0.31	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	71;71;71;71	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	71	ENSP00000323913:A71S;ENSP00000297348:A71S;ENSP00000276573:A71S;ENSP00000332302:A71S	ENSP00000276573:A71S	A	+	1	0	TRIM55	67203135	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	4.754000	0.62191	2.747000	0.94245	0.650000	0.86243	GCA		0.493	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		T	67040581	G	T	67040581	3	4	192	1	0	0	0	0	1	0	0	0	16526	1203	42	5	217	5	TRIM55	8	67040581	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	36339409	67040581	79323441	30	13561											
ZHX2	22882	broad.mit.edu	37	chr8	123965254	123965254	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggcatcgtccacatcAccagcgaatcccttgccaaa	13	6	8	14	2	1	0	1	0	0	0	4	1	3	0	4	2	2	1	4	2	3	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:123965254A>C	ENST00000314393.4	+	3	2339	c.1504A>C	c.(1504-1506)Acc>Ccc	p.T502P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	502					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGTCCACATCACCAGCGAATC	0.572																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc022bag.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1504-1506)Acc>Ccc		Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.							82	67	72					8																	123965254		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965254A>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1504A>C	8.37:g.123965254A>C	ENSP00000314709:p.Thr502Pro					ZHX2_uc003ypk.1_Missense_Mutation_p.T502P	p.T502P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		0	1504	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		502						Missense_Mutation	SNP	ENST00000314393.4	37	c.1504A>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	8.376	0.836332	0.16891	.	.	ENSG00000178764	ENST00000314393	T	0.18960	2.18	5.7	5.7	0.88788	Homeodomain-related (1);Homeodomain-like (1);	0.090906	0.45867	D	0.000336	T	0.12050	0.0293	L	0.27053	0.805	0.34599	D	0.716302	B	0.12630	0.006	B	0.08055	0.003	T	0.24154	-1.0168	10	0.22109	T	0.4	-28.4487	3.967	0.09436	0.6679:0.1334:0.071:0.1278	.	502	Q9Y6X8	ZHX2_HUMAN	P	502	ENSP00000314709:T502P	ENSP00000314709:T502P	T	+	1	0	ZHX2	124034435	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.498000	0.60373	2.189000	0.69895	0.459000	0.35465	ACC		0.572	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		C	123965254	A	C	123965254	3	2	192	1	0	0	0	0	1	0	0	0	17673	159	6	5	1506	5	ZHX2	8	123965254	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08	56924673	123965254	22398768	31	13562											
FER1L6	654463	broad.mit.edu	37	chr8	125110086	125110086	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttagaggatgagaatatCttcacaggccaaaaatcaag	17	10	8	6	0	3	2	2	1	1	2	3	4	3	3	1	2	0	0	1	2	6	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:125110086C>A	ENST00000522917.1	+	37	5051	c.4845C>A	c.(4843-4845)atC>atA	p.I1615I	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I1615I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1615	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGAGAATATCTTCACAGGCC	0.408																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4843-4845)atC>atA		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							116	109	111					8																	125110086		1920	4127	6047	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125110086C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4845C>A	8.37:g.125110086C>A						AK057332_uc003yqy.1_Intron	p.I1615I	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		36	5051	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1615			C2 6.			Silent	SNP	ENST00000522917.1	37	c.4845C>A	CCDS43767.1																																																																																				0.408	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125110086	C	A	125110086	2	1	192	1	0	0	0	0	0	0	0	1	5815	903	32	5		5	FER1L6	8	125110086	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08	1144832	125110086	21253936	32	13563											
RAD23B	5887	broad.mit.edu	37	chr9	110084381	110084383	+	In_Frame_Del	DEL	ACA	ACA	-																															caactacgacagcaacaactAcaacaacaagttctggaggt																										TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:110084381_110084383delACA	ENST00000358015.3	+	7	1150_1152	c.799_801delACA	c.(799-801)acadel	p.T269del	RAD23B_ENST00000416373.2_In_Frame_Del_p.T197del	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	269	Poly-Thr.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCAACAACTACAACAACAAGTT	0.468								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(799-801)acadel	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084381_110084383delACA		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.799_801delACA	9.37:g.110084387_110084389delACA	ENSP00000350708:p.Thr269del					RAD23B_uc011lwa.2_In_Frame_Del_p.T269del|RAD23B_uc022blj.1_In_Frame_Del_p.T197del|RAD23B_uc011lwb.2_In_Frame_Del_p.T248del	p.T269del	NM_002874	NP_002865	P54727	RD23B_HUMAN			6	1193_1195	+			269			Poly-Thr.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	In_Frame_Del	DEL	ENST00000358015.3	37	c.799_801delACA	CCDS6769.1																																																																																				0.468	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		-	110084383	ACA	-	110084381	7	5	192	1	0	1	0	1	0	0	0	0	12983	391	14	0	825	0	RAD23B	9	110084381	In_Frame_Del	DEL	ACA	TCGA-27-2519-01A-01D-1494-08		110084381	31129050	33	13564											
PTPN3	5774	broad.mit.edu	37	chr9	112153417	112153417	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatccagattcctaacttaCgttcacgtaacttgcattaa	12	14	4	11	2	2	1	2	0	0	1	4	1	4	1	2	0	4	3	2	0	4	7			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:112153417C>T	ENST00000374541.2	-	21	2211		c.e21+1		PTPN3_ENST00000497739.1_Splice_Site|PTPN3_ENST00000394827.3_Splice_Site|PTPN3_ENST00000446349.1_Splice_Site|PTPN3_ENST00000412145.1_Splice_Site|PTPN3_ENST00000262539.3_Splice_Site	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3						negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458																																						uc004bed.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e21+1		Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.							108	82	91					9																	112153417		2203	4300	6503	SO:0001630	splice_region_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112153417C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2106+1G>A	9.37:g.112153417C>T						PTPN3_uc004beb.2_Splice_Site_p.N571_splice|PTPN3_uc004bec.2_Splice_Site_p.N526_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.N657_splice|PTPN3_uc011lwh.1_Splice_Site_p.N548_splice|PTPN3_uc011lwd.1_Splice_Site_p.N170_splice|PTPN3_uc011lwe.1_Splice_Site_p.N415_splice|PTPN3_uc011lwf.1_Splice_Site_p.N370_splice	p.N702_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN			21	2218	-			702			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	ENST00000374541.2	37	c.2106_splice	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328963	0.81690	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN3	111193238	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	7.335000	0.79234	2.739000	0.93911	0.655000	0.94253	.		0.458	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Intron	T	112153417	C	T	112153417	5	4	192	1	0	0	0	0	0	0	1	0	12789	550	19	1	658	1	PTPN3	9	112153417	Splice_Site	SNP	C	TCGA-27-2519-01A-01D-1494-08	2069036	112153417	29060014	34	13565											
C10orf113	387638	broad.mit.edu	37	chr10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actctacctgttcatgtctgGaatgtacatttcagccacac	10	13	6	12	0	4	0	2	0	2	0	4	1	4	1	2	1	3	2	2	1	3	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:21435284G>A	ENST00000534331.1	-	1	204	c.154C>T	c.(154-156)Cca>Tca	p.P52S	C10orf113_ENST00000529198.1_Missense_Mutation_p.P52S|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443																																						uc001iqm.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						c.(154-156)Cca>Tca		Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.							146	128	134					10																	21435284		2203	4300	6503	SO:0001583	missense	387638							g.chr10:21435284G>A		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.154C>T	10.37:g.21435284G>A	ENSP00000433646:p.Pro52Ser					NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.P52S	p.P52S	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN			0	205	-			52					B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	c.154C>T	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300961	0.40694	.	.	ENSG00000204683	ENST00000534331;ENST00000529198;ENST00000377118	T;T	0.40225	1.04;1.04	5.12	3.25	0.37280	.	.	.	.	.	T	0.34424	0.0897	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.10109	-1.0644	9	0.87932	D	0	-1.0583	6.2323	0.20742	0.0933:0.0:0.7237:0.183	.	52	Q5VZT2	CJ113_HUMAN	S	52;52;42	ENSP00000433646:P52S;ENSP00000366322:P42S	ENSP00000366322:P42S	P	-	1	0	C10orf113	21475290	0.006000	0.16342	0.025000	0.17156	0.403000	0.30841	1.189000	0.32114	0.728000	0.32382	0.655000	0.94253	CCA		0.443	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		A	21435284	G	A	21435284	3	1	192	1	0	0	0	0	1	0	0	0	1584	1174	41	3	356	3	C10orf113	10	21435284	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		21435284	114099463	35	13566											
PTEN	5728	broad.mit.edu	37	chr10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattcccagtcagaggCgctatgtgtattattatagc	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	7	8	rs121913293		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		90	Whole gene deletion(37)|Substitution - Missense(32)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(1)	central_nervous_system(31)|endometrium(16)|prostate(16)|skin(9)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074467	PTEN	M	rs121913293	c.(517-519)Cgc>Tgc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							126	130	129					10																	89711899		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711899C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.517C>T	10.37:g.89711899C>T	ENSP00000361021:p.Arg173Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R173C	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1549	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.517C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207402	0.95033	.	.	ENSG00000171862	ENST00000371953	D	0.98926	-5.24	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.98423	1.0578	9	.	.	.	0.9169	19.9308	0.97118	0.0:1.0:0.0:0.0	.	173	P60484	PTEN_HUMAN	C	173	ENSP00000361021:R173C	.	R	+	1	0	PTEN	89701879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89711899	C	T	89711899	3	4	192	1	0	0	0	0	1	0	0	0	12738	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	68276615	89711899	45822848	36	13567											
DNMBP	23268	broad.mit.edu	37	chr10	101654794	101654794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttctgtttcttcaaatActtcatcttttatctgttca	7	24	2	8	0	7	0	3	0	4	0	7	0	7	0	0	0	1	2	0	0	3	10			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:101654794A>G	ENST00000324109.4	-	11	3156	c.3065T>C	c.(3064-3066)gTa>gCa	p.V1022A	DNMBP_ENST00000342239.3_Missense_Mutation_p.V1046A|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.V268A	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1022	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCTTCAAATACTTCATCTTT	0.353																																						uc001kqj.2																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3064-3066)gTa>gCa		Homo sapiens dynamin binding protein (DNMBP), mRNA.							109	95	99					10																	101654794		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101654794A>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3065T>C	10.37:g.101654794A>G	ENSP00000315659:p.Val1022Ala					DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.V310A|DNMBP_uc001kqh.2_Missense_Mutation_p.V654A	p.V1022A	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	10	3157	-		Colorectal(252;0.234)	1022			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3065T>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	6.739	0.505086	0.12822	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.59224	0.28;0.28;0.28	5.55	-4.15	0.03881	BAR (3);	0.988073	0.08218	N	0.979651	T	0.23688	0.0573	N	0.00707	-1.245	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.002	T	0.43653	-0.9378	10	0.08837	T	0.75	-2.371	16.97	0.86296	0.1825:0.0:0.8175:0.0	.	1022;268;1046	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	A	1046;1022;268;268	ENSP00000344914:V1046A;ENSP00000315659:V1022A;ENSP00000443657:V268A	ENSP00000315659:V1022A	V	-	2	0	DNMBP	101644784	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	1.216000	0.32443	-0.667000	0.05303	-0.417000	0.06048	GTA		0.353	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		G	101654794	A	G	101654794	3	3	192	1	0	0	0	0	1	0	0	0	4674	391	14	4	1696	4	DNMBP	10	101654794	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08	11942895	101654794	33879953	37	13568											
SORCS1	114815	broad.mit.edu	37	chr10	108389034	108389034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacggtcacacggaaaatgCccacgttctgatagacgtgt	11	8	11	11	4	2	2	1	1	1	1	2	3	2	3	1	2	1	2	1	2	3	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:108389034C>T	ENST00000263054.6	-	19	2595	c.2588G>A	c.(2587-2589)gGc>gAc	p.G863D	SORCS1_ENST00000369698.1_Missense_Mutation_p.G398D|SORCS1_ENST00000344440.6_Missense_Mutation_p.G863D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	863	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G863D(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGGAAAATGCCCACGTTCTG	0.483																																						uc001kyl.3																			2	Substitution - Missense(2)	p.G863D(3)	endometrium(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2587-2589)gGc>gAc		Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.							161	116	131					10																	108389034		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389034C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2588G>A	10.37:g.108389034C>T	ENSP00000263054:p.Gly863Asp					SORCS1_uc021pxw.1_Missense_Mutation_p.G863D|SORCS1_uc009xxs.3_Missense_Mutation_p.G863D|SORCS1_uc001kym.3_Missense_Mutation_p.G863D|SORCS1_uc001kyn.2_Missense_Mutation_p.G863D|SORCS1_uc001kyo.3_Missense_Mutation_p.G863D	p.G863D	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2770	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	863			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2588G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237074	0.95240	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	D;D;D	0.94457	-3.43;-3.43;-3.43	5.82	5.82	0.92795	PKD/Chitinase domain (1);PKD domain (4);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	M	0.77313	2.365	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96698	0.9516	9	.	.	.	-23.91	20.1001	0.97870	0.0:1.0:0.0:0.0	.	863;863;863;863;863	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	398;863;863	ENSP00000358712:G398D;ENSP00000263054:G863D;ENSP00000345964:G863D	.	G	-	2	0	SORCS1	108379024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	GGC		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108389034	C	T	108389034	3	4	192	1	0	0	0	0	1	0	0	0	14930	739	26	3	1184	3	SORCS1	10	108389034	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	6734240	108389034	27145713	38	13569											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798511	119798511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattatatttgaagcccTgaattttgctgtaaatggat	11	16	9	5	0	0	2	0	2	0	0	0	3	0	3	1	2	2	3	1	2	6	6			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:119798511T>C	ENST00000355624.3	-	3	1676	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R413G|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	413					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTGAAGCCCTGAATTTTGCT	0.343																																						uc001ldj.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1237-1239)Agg>Ggg		Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.							118	119	119					10																	119798511		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798511T>C	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1237A>G	10.37:g.119798511T>C	ENSP00000347839:p.Arg413Gly					RAB11FIP2_uc009xyz.2_Missense_Mutation_p.R413G	p.R413G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1677	-		Colorectal(252;0.235)	413					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.1237A>G	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.325955	0.41197	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.70749	-0.51;-0.25	5.86	5.86	0.93980	.	0.222000	0.52532	D	0.000061	T	0.63640	0.2528	L	0.43152	1.355	0.46749	D	0.999185	P;B	0.35656	0.514;0.156	B;B	0.29716	0.106;0.026	T	0.66976	-0.5787	10	0.62326	D	0.03	-19.6849	16.5602	0.84551	0.0:0.0:0.0:1.0	.	413;413	Q3I768;Q7L804	.;RFIP2_HUMAN	G	413	ENSP00000347839:R413G;ENSP00000358200:R413G	ENSP00000347839:R413G	R	-	1	2	RAB11FIP2	119788501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.461000	0.66699	2.367000	0.80283	0.528000	0.53228	AGG		0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		C	119798511	T	C	119798511	3	2	192	1	0	0	0	0	1	0	0	0	12894	1579	55	4	313	4	RAB11FIP2	10	119798511	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	11409477	119798511	15736236	39	13570											
GRM5	2915	broad.mit.edu	37	chr11	88780659	88780659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagccatccacacagcGtaccaagccttcttcctctt	9	9	8	15	1	2	0	0	0	2	0	4	2	4	2	5	2	4	1	5	2	2	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr11:88780659G>A	ENST00000305447.4	-	1	531	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	GRM5_ENST00000418177.2_Missense_Mutation_p.R128C|GRM5_ENST00000455756.2_Missense_Mutation_p.R128C|GRM5_ENST00000305432.5_Missense_Mutation_p.R128C|GRM5_ENST00000393294.3_Missense_Mutation_p.R128C|GRM5_ENST00000393297.1_Missense_Mutation_p.R128C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	128					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCCACACAGCGTACCAAGCCT	0.522																																						uc001pcq.3																			0		p.R128H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(382-384)Cgc>Tgc		Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	Acamprosate(DB00659)						83	72	76					11																	88780659		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780659G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.382C>T	11.37:g.88780659G>A	ENSP00000306138:p.Arg128Cys					GRM5_uc009yvm.3_Missense_Mutation_p.R128C|GRM5_uc009yvn.2_Missense_Mutation_p.R128C	p.R128C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			0	582	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	128					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.382C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209344	0.39003	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.115400	0.64402	D	0.000017	D	0.87873	0.6287	L	0.55990	1.75	0.58432	D	0.999996	D;B;D	0.76494	0.998;0.001;0.999	D;B;D	0.65443	0.935;0.001;0.91	D	0.87023	0.2130	9	.	.	.	.	14.8562	0.70338	0.0:0.0:0.8557:0.1443	.	128;128;128	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	C	128	ENSP00000402912:R128C;ENSP00000405690:R128C;ENSP00000305905:R128C;ENSP00000306138:R128C;ENSP00000376975:R128C;ENSP00000376972:R128C	.	R	-	1	0	GRM5	88420307	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.292000	0.43549	2.514000	0.84764	0.563000	0.77884	CGC		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		A	88780659	G	A	88780659	3	1	192	1	0	0	0	0	1	0	0	0	6800	1145	40	1	3292	1	GRM5	11	88780659	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		88780659	46225857	40	13571											
ANO4	121601	broad.mit.edu	37	chr12	101480464	101480464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgattgctgccgtgttCgggatcgtcatttaccgggt	4	14	15	8	4	1	1	1	1	0	0	3	2	1	2	2	3	3	2	2	3	1	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr12:101480464C>T	ENST00000392977.3	+	17	1773	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ANO4_ENST00000392979.3_Silent_p.F486F|ANO4_ENST00000299222.9_Silent_p.F41F|ANO4_ENST00000550015.1_Silent_p.F41F			Q32M45	ANO4_HUMAN	anoctamin 4	521					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCCGTGTTCGGGATCGTCA	0.517										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1561-1563)ttC>ttT		Homo sapiens anoctamin 4 (ANO4), mRNA.							400	331	354					12																	101480464		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101480464C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1563C>T	12.37:g.101480464C>T		HNSCC(74;0.22)				ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	p.F521F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			16	2135	+			521					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.1563C>T																																																																																					0.517	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		T	101480464	C	T	101480464	2	4	192	1	0	0	0	0	0	0	0	1	699	883	31	2		2	ANO4	12	101480464	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		101480464	32371431	41	13572											
EML1	2009	broad.mit.edu	37	chr14	100363508	100363508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacaggggtcgagactgccGtaacaacctgtacttgcttc	9	10	11	11	2	0	1	0	0	0	1	2	2	0	1	2	2	6	4	2	2	4	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr14:100363508G>A	ENST00000262233.6	+	7	843	c.704G>A	c.(703-705)cGt>cAt	p.R235H	EML1_ENST00000334192.4_Missense_Mutation_p.R254H|EML1_ENST00000327921.9_Missense_Mutation_p.R223H	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	235	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CGAGACTGCCGTAACAACCTG	0.468																																						uc001ygr.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(760-762)cGt>cAt		Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.							124	110	115					14																	100363508		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363508G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.704G>A	14.37:g.100363508G>A	ENSP00000262233:p.Arg235His					EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.2_Missense_Mutation_p.R223H|EML1_uc001ygq.3_Missense_Mutation_p.R254H|EML1_uc001ygs.3_Missense_Mutation_p.R235H	p.R254H	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN			7	830	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	235					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.761G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347710	0.95807	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.29	5.29	0.74685	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.099111	0.64402	D	0.000001	T	0.81346	0.4803	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.949;0.958;0.992;0.984;0.983	D	0.85426	0.1146	10	0.87932	D	0	-18.3775	18.9498	0.92637	0.0:0.0:1.0:0.0	.	223;223;235;254;254	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	H	222;223;235;254;254;204	ENSP00000451346:R222H;ENSP00000327384:R223H;ENSP00000262233:R235H;ENSP00000334314:R254H;ENSP00000452089:R204H	ENSP00000262233:R235H	R	+	2	0	EML1	99433261	1.000000	0.71417	0.155000	0.22561	0.989000	0.77384	9.675000	0.98638	2.480000	0.83734	0.650000	0.86243	CGT		0.468	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100363508	G	A	100363508	3	1	192	1	0	0	0	0	1	0	0	0	5096	1145	40	1	791	1	EML1	14	100363508	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		100363508	6986032	42	13573											
CIB2	10518	broad.mit.edu	37	chr15	78403609	78403609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagctcatagaatcgCgaatgcagccttggaggaaa	12	6	14	9	2	1	1	1	0	0	1	2	4	1	3	2	4	3	2	2	4	4	2	rs541843030		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													C|||	1	0.000199681	0	0	5008	,	,		18045	0		0	False		,,,				2504	0.001					uc010ums.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(94-96)tcG>tcA		Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.							82	79	80					15																	78403609		2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78403609C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.96G>A	15.37:g.78403609C>T						CIB2_uc002bdb.1_Silent_p.S32S|CIB2_uc002bdc.1_5'UTR	p.S32S	NM_006383	NP_006374	O75838	CIB2_HUMAN			2	417	-			32					B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.96G>A	CCDS10296.1																																																																																				0.612	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		T	78403609	C	T	78403609	2	4	192	1	0	0	0	0	0	0	0	1	3421	755	27	1		1	CIB2	15	78403609	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		78403609	24127783	43	13574											
ACSM2B	348158	broad.mit.edu	37	chr16	20570756	20570756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagggctgggcttgggAgtcgcttgccagcctgagga	7	7	16	11	1	0	1	0	1	0	0	1	3	0	3	3	4	2	3	3	4	0	2	rs74479331		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr16:20570756A>G	ENST00000329697.6	-	3	359	c.191T>C	c.(190-192)cTc>cCc	p.L64P	ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L64P|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L64P|ACSM2B_ENST00000414188.2_Missense_Mutation_p.L64P	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	64					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.L64P(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCTTGGGAGTCGCTTGCC	0.512																																						uc002dhj.4																			1	Substitution - Missense(1)	p.L64P(2)	endometrium(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(190-192)cTc>cCc		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							35	36	35					16																	20570756		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570756A>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.191T>C	16.37:g.20570756A>G	ENSP00000327453:p.Leu64Pro					ACSM2B_uc002dhk.4_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	p.L64P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			3	401	-			64					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.191T>C	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.854882	0.00558	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.32023	1.47;1.47	3.51	3.51	0.40186	.	0.999655	0.08090	N	0.999421	T	0.10508	0.0257	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16689	-1.0394	10	0.02654	T	1	0.1773	9.9439	0.41598	0.1046:0.0:0.8954:0.0	.	64;64	A8K051;Q68CK6	.;ACS2B_HUMAN	P	64	ENSP00000327453:L64P;ENSP00000390378:L64P	ENSP00000327453:L64P	L	-	2	0	ACSM2B	20478257	0.000000	0.05858	0.138000	0.22173	0.270000	0.26580	0.703000	0.25646	0.694000	0.31654	-0.166000	0.13349	CTC		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		G	20570756	A	G	20570756	3	3	192	1	0	0	0	0	1	0	0	0	184	304	11	4	1590	4	ACSM2B	16	20570756	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08		20570756	69783997	44	13575											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Frame_Shift_Del	DEL	G	G	-																															attctcttcctctgtgcgccGgtctctcccaggacaggcac																								rs28934574		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:7577094delG	ENST00000269305.4	-	8	1033	c.844delC	c.(844-846)cggfs	p.R283fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)cggfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							83	71	75					17																	7577094		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844delC	17.37:g.7577094delG	ENSP00000269305:p.Arg283fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.844delC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577094	G	-	7577094	7	5	192	1	0	1	0	1	0	0	0	0	16378	1115	39	0	442	0	TP53	17	7577094	Frame_Shift_Del	DEL	G	TCGA-27-2519-01A-01D-1494-08		7577094	73618116	45	13576											
SGCA	6442	broad.mit.edu	37	chr17	48245006	48245006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacacccagacctgccccGgtggctccgctacacccagc	7	4	11	19	2	0	1	0	0	0	1	1	2	1	2	6	3	3	2	6	3	1	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:48245006G>A	ENST00000262018.3	+	3	257	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	SGCA_ENST00000543315.1_Missense_Mutation_p.R74Q|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.R74Q|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	74			R -> W (in LGMD2D).		muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GACCTGCCCCGGTGGCTCCGC	0.657																																						uc002iqi.3																			0		p.P73P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(220-222)cGg>cAg		Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.							49	49	49					17																	48245006		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245006G>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.221G>A	17.37:g.48245006G>A	ENSP00000262018:p.Arg74Gln					SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.R74Q|SGCA_uc010wmi.2_Non-coding_Transcript	p.R74Q	NM_000023	NP_000014	Q16586	SGCA_HUMAN			2	257	+			74		R -> W (in LGMD2D).			A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.221G>A	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421203	0.42918	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315	D;D;D	0.98437	-4.93;-4.93;-4.93	4.53	3.55	0.40652	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.289040	0.30800	N	0.008849	D	0.97210	0.9088	L	0.33485	1.01	0.80722	D	1	D;P	0.89917	1.0;0.657	D;B	0.83275	0.996;0.152	D	0.94389	0.7612	10	0.13470	T	0.59	-23.9088	9.4495	0.38717	0.1024:0.0:0.8976:0.0	.	74;74	Q16586-2;Q16586	.;SGCA_HUMAN	Q	74	ENSP00000345522:R74Q;ENSP00000262018:R74Q;ENSP00000444539:R74Q	ENSP00000262018:R74Q	R	+	2	0	SGCA	45600005	0.969000	0.33509	0.986000	0.45419	0.976000	0.68499	2.670000	0.46833	2.219000	0.72066	0.462000	0.41574	CGG		0.657	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		A	48245006	G	A	48245006	3	1	192	1	0	0	0	0	1	0	0	0	14199	1116	39	2	231	2	SGCA	17	48245006	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	40667912	48245006	32950204	46	13577											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859897	6859897	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcccaggagtgactctgtgGtaagtcatccatgtcagcac	9	11	10	11	0	3	1	2	1	1	0	5	2	5	2	2	2	1	2	2	2	1	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr18:6859897G>T	ENST00000383472.4	+	5	830		c.e5+1		ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site|ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000419673.2_Splice_Site|ARHGAP28_ENST00000532996.1_Splice_Site|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGACTCTGTGGTAAGTCATCC	0.428																																						uc002knc.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.e5+1		Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.							193	179	184					18																	6859897		2203	4300	6503	SO:0001630	splice_region_variant	79822				signal transduction	intracellular		g.chr18:6859897G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.726+1G>T	18.37:g.6859897G>T						ARHGAP28_uc002kne.3_Splice_Site_p.V83_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.V65_splice|ARHGAP28_uc002knf.3_Splice_Site_p.V74_splice	p.V190_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN			5	3781	+		Colorectal(10;0.168)	65					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Splice_Site	SNP	ENST00000383472.4	37	c.570_splice		.	.	.	.	.	.	.	.	.	.	G	14.66	2.600954	0.46423	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8775	0.57998	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP28	6849897	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.694000	0.54742	2.756000	0.94617	0.563000	0.77884	.		0.428	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	Intron	T	6859897	G	T	6859897	5	4	192	1	0	0	0	0	0	0	1	0	877	1275	44	5	260	5	ARHGAP28	18	6859897	Splice_Site	SNP	G	TCGA-27-2519-01A-01D-1494-08		6859897	71217351	47	13578											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462137	50462137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaccgggagggatgtgcCgttcccgaggttttccagga	7	8	16	10	3	0	0	0	0	0	0	2	5	2	4	4	5	1	2	4	5	0	3	rs142292396	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:50462137C>A	ENST00000447370.2	-	7	1216	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G376C|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	376	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGGATGTGCCGTTCCCGAGG	0.662																																						uc010ybh.2																			0		p.R376S(1)|p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1126-1128)Ggc>Tgc		Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.							36	40	38					19																	50462137		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462137C>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1126G>T	19.37:g.50462137C>A	ENSP00000412361:p.Gly376Cys					SIGLEC11_uc010ybi.2_Missense_Mutation_p.G376C	p.G376C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	6	1217	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	376			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1126G>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101482	0.37048	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.57907	0.37	3.07	2.01	0.26516	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.896444	0.09600	N	0.780334	T	0.67439	0.2893	M	0.86502	2.82	0.09310	N	1	D;D	0.56968	0.97;0.978	P;P	0.56163	0.793;0.765	T	0.53549	-0.8423	10	0.51188	T	0.08	.	6.4245	0.21762	0.0:0.8482:0.0:0.1518	.	376;376	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	C	376	ENSP00000412361:G376C	ENSP00000412361:G376C	G	-	1	0	SIGLEC11	55153949	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.799000	0.27028	0.563000	0.29222	0.556000	0.70494	GGC		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		A	50462137	C	A	50462137	3	1	192	1	0	0	0	0	1	0	0	0	14307	652	23	5	990	5	SIGLEC11	19	50462137	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		50462137	8666846	48	13579											
KLK15	55554	broad.mit.edu	37	chr19	51329907	51329907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcctctgccctccgcGcctgcacacaccatggtgtt	4	10	9	18	3	2	0	0	0	2	0	3	0	3	0	5	1	3	2	5	1	0	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:51329907G>A	ENST00000598239.1	-	4	618	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KLK15_ENST00000326856.4_Silent_p.G195G|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000596931.1_Intron|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	196	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTCCGCGCCTGCACACA	0.582																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(586-588)ggC>ggT		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.							77	80	79					19																	51329907		2203	4300	6503	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329907G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.588C>T	19.37:g.51329907G>A						KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Silent_p.G195G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	p.G196G	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	619	-		all_neural(266;0.057)	196			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.588C>T	CCDS12805.1																																																																																				0.582	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		A	51329907	G	A	51329907	2	1	192	1	0	0	0	0	0	0	0	1	8403	1074	38	1		1	KLK15	19	51329907	Silent	SNP	G	TCGA-27-2519-01A-01D-1494-08	867770	51329907	7799076	49	13580											
BRSK1	84446	broad.mit.edu	37	chr19	55814187	55814187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagcatggcatcactggGctgcttcagggaccgcgaga	10	6	15	10	2	2	2	2	0	0	2	2	5	2	3	1	3	2	4	1	3	0	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:55814187G>C	ENST00000309383.1	+	10	1257	c.980G>C	c.(979-981)gGc>gCc	p.G327A	BRSK1_ENST00000590333.1_Missense_Mutation_p.G343A|BRSK1_ENST00000585418.1_Missense_Mutation_p.G327A|BRSK1_ENST00000326848.7_Missense_Mutation_p.G22A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	327	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.G327D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATCACTGGGCTGCTTCAGG	0.682																																						uc002qkf.3																			1	Substitution - Missense(1)	p.G327D(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1027-1029)gGc>gCc		Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.							62	52	55					19																	55814187		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814187G>C	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.980G>C	19.37:g.55814187G>C	ENSP00000310649:p.Gly327Ala					BRSK1_uc021vbs.1_Missense_Mutation_p.G327A|BRSK1_uc002qkg.3_Missense_Mutation_p.G327A|BRSK1_uc002qkh.3_Missense_Mutation_p.G22A|Mir_324_uc021vbt.1_5'Flank	p.G343A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	11	1155	+		Renal(1328;0.245)	327			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1028G>C	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	32	5.165279	0.94768	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73681	-0.77;0.53	4.69	4.69	0.59074	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88843	0.3314	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	327;343	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	A	327;22;22	ENSP00000310649:G327A;ENSP00000320853:G22A	ENSP00000310649:G327A	G	+	2	0	BRSK1	60505999	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.347000	0.97059	2.345000	0.79718	0.655000	0.94253	GGC		0.682	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		C	55814187	G	C	55814187	3	2	192	1	0	0	0	0	1	0	0	0	1523	1203	42	5	1018	5	BRSK1	19	55814187	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	4484280	55814187	3314796	50	13581											
TM9SF4	9777	broad.mit.edu	37	chr20	30745712	30745712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatatgacaaccctgtgcGcaccaaccagattccccggc	10	6	8	17	2	0	2	0	1	0	1	1	2	1	2	6	1	3	1	6	1	3	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:30745712G>A	ENST00000398022.2	+	14	1680	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	TM9SF4_ENST00000217315.5_Missense_Mutation_p.R465H	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	482						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AACCCTGTGCGCACCAACCAG	0.587																																						uc002wxj.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1444-1446)cGc>cAc		Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.							123	114	117					20																	30745712		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745712G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1445G>A	20.37:g.30745712G>A	ENSP00000381104:p.Arg482His					TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H	p.R482H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1680	+			482					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1445G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	36	5.681421	0.96774	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.53206	0.63;0.63	4.96	4.96	0.65561	.	0.061906	0.64402	D	0.000003	T	0.74596	0.3737	M	0.91972	3.26	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.64687	0.928;0.909	T	0.81059	-0.1104	10	0.66056	D	0.02	-15.6077	18.4218	0.90594	0.0:0.0:1.0:0.0	.	389;482	B4DH88;Q92544	.;TM9S4_HUMAN	H	482;465	ENSP00000381104:R482H;ENSP00000217315:R465H	ENSP00000217315:R465H	R	+	2	0	TM9SF4	30209373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.463000	0.97652	2.572000	0.86782	0.655000	0.94253	CGC		0.587	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		A	30745712	G	A	30745712	3	1	192	1	0	0	0	0	1	0	0	0	15977	1087	38	1	1499	1	TM9SF4	20	30745712	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		30745712	32279808	51	13582											
MC3R	4159	broad.mit.edu	37	chr20	54824428	54824428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcggcgtctgtggcGtggtgttcatcgtctactcg	2	14	14	11	5	4	0	1	0	3	0	6	0	4	0	0	3	3	2	0	3	1	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:54824428G>A	ENST00000243911.2	+	1	641	c.529G>A	c.(529-531)Gtg>Atg	p.V177M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	177					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTCTGTGGCGTGGTGTTCAT	0.562																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(529-531)Gtg>Atg		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							213	193	199					20																	54824428		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824428G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.529G>A	20.37:g.54824428G>A	ENSP00000243911:p.Val177Met						p.V177M	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	641	+			214					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.529G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452219	0.63290	.	.	ENSG00000124089	ENST00000243911	T	0.73152	-0.72	5.37	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.089570	0.40818	N	0.001019	T	0.68714	0.3031	L	0.37561	1.115	0.37835	D	0.928851	D	0.64830	0.994	P	0.60286	0.872	T	0.71810	-0.4480	10	0.51188	T	0.08	.	3.6969	0.08368	0.3508:0.0:0.6492:0.0	.	214	P41968	MC3R_HUMAN	M	177	ENSP00000243911:V177M	ENSP00000243911:V177M	V	+	1	0	MC3R	54257835	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.265000	0.65519	2.500000	0.84329	0.650000	0.86243	GTG		0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824428	G	A	54824428	3	1	192	1	0	0	0	0	1	0	0	0	9365	1145	40	1	531	1	MC3R	20	54824428	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	24078716	54824428	8201092	52	13583											
HUNK	30811	broad.mit.edu	37	chr21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagattcctttggctgccGcaatattttccgcaaaacct	9	13	7	12	2	0	1	0	0	0	1	2	1	2	1	4	1	3	4	4	1	4	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr21:33370854G>A	ENST00000270112.2	+	11	1862	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	501					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTGGCTGCCGCAATATTTTC	0.527																																						uc002yph.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(1501-1503)cGc>cAc		Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.							115	108	110					21																	33370854		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33370854G>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1502G>A	21.37:g.33370854G>A	ENSP00000270112:p.Arg501His						p.R501H	NM_014586	NP_055401	P57058	HUNK_HUMAN			10	1862	+			501						Missense_Mutation	SNP	ENST00000270112.2	37	c.1502G>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730461	0.69074	.	.	ENSG00000142149	ENST00000270112	T	0.69561	-0.41	4.45	3.48	0.39840	.	0.234561	0.36338	N	0.002650	T	0.51805	0.1696	N	0.19112	0.55	0.32200	N	0.577961	D	0.61697	0.99	P	0.45099	0.469	T	0.64681	-0.6350	10	0.72032	D	0.01	-24.8398	9.911	0.41406	0.0:0.0:0.582:0.418	.	501	P57058	HUNK_HUMAN	H	501	ENSP00000270112:R501H	ENSP00000270112:R501H	R	+	2	0	HUNK	32292725	0.961000	0.32948	1.000000	0.80357	0.990000	0.78478	2.365000	0.44196	2.304000	0.77564	0.491000	0.48974	CGC		0.527	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		A	33370854	G	A	33370854	3	1	192	1	0	0	0	0	1	0	0	0	7458	1087	38	1	1544	1	HUNK	21	33370854	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		33370854	14759041	53	13584											
ARSF	416	broad.mit.edu	37	chrX	2994636	2994636	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgtgcgactgactcAgcacatctctgccgcctccc	7	7	11	16	3	2	1	1	1	1	0	4	3	3	2	3	2	3	1	3	2	1	0			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:2994636A>C	ENST00000381127.1	+	4	430	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	ARSF_ENST00000359361.2_Missense_Mutation_p.Q70P|ARSF_ENST00000537104.1_Missense_Mutation_p.Q70P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	70					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGACTGACTCAGCACATCTCT	0.637																																						uc022brz.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(208-210)cAg>cCg		Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.							59	39	46					X																	2994636		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2994636A>C	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.209A>C	X.37:g.2994636A>C	ENSP00000370519:p.Gln70Pro					ARSF_uc004cre.2_Missense_Mutation_p.Q70P|ARSF_uc004crf.2_Missense_Mutation_p.Q70P	p.Q70P	NM_001201538	NP_001188467	P54793	ARSF_HUMAN			3	345	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	70					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.209A>C	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	a	16.82	3.227890	0.58777	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94046	-3.34;-3.34;-3.34	2.63	2.63	0.31362	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.210998	0.41823	U	0.000813	D	0.97673	0.9237	H	0.98487	4.245	0.49915	D	0.999837	D	0.76494	0.999	D	0.79784	0.993	D	0.97003	0.9730	10	0.62326	D	0.03	.	10.2788	0.43526	1.0:0.0:0.0:0.0	.	70	P54793	ARSF_HUMAN	P	70	ENSP00000370519:Q70P;ENSP00000445594:Q70P;ENSP00000352319:Q70P	ENSP00000352319:Q70P	Q	+	2	0	ARSF	3004636	1.000000	0.71417	0.002000	0.10522	0.009000	0.06853	7.206000	0.77891	0.887000	0.36136	0.231000	0.17811	CAG		0.637	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			C	2994636	A	C	2994636	3	2	192	1	0	0	0	0	1	0	0	0	991	188	7	5	219	5	ARSF	23	2994636	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08		2994636	152275924	54	13585											
PHKA1	5255	broad.mit.edu	37	chrX	71821869	71821869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgagattgacagtctaCgaaattccacctgaaacata	15	9	7	10	1	1	3	0	3	1	1	2	5	2	3	2	0	3	1	2	0	4	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:71821869C>T	ENST00000373542.4	-	28	3203	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	PHKA1_ENST00000339490.3_Intron|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.R1015H|PHKA1_ENST00000373545.3_Missense_Mutation_p.R956H	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1015					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGACAGTCTACGAAATTCCAC	0.358																																						uc004eax.4																			0		p.R1015C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3043-3045)cGt>cAt		Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.							101	85	90					X																	71821869		2203	4299	6502	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71821869C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3044G>A	X.37:g.71821869C>T	ENSP00000362643:p.Arg1015His					PHKA1_uc004eay.4_Intron|PHKA1_uc011mqi.2_Intron	p.R1015H	NM_002637	NP_002628	P46020	KPB1_HUMAN			27	3345	-	Renal(35;0.156)		1015					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3044G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909128	0.17833	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000373539	D;D;D	0.91011	-2.77;-2.76;-2.77	5.44	-0.504	0.11997	.	0.710692	0.14342	N	0.325676	D	0.85066	0.5612	L	0.38175	1.15	0.35651	D	0.811784	P	0.47484	0.896	B	0.43331	0.416	T	0.80650	-0.1288	10	0.46703	T	0.11	-0.3179	10.0144	0.42006	0.0:0.5489:0.0:0.4511	.	1015	P46020	KPB1_HUMAN	H	956;1015;1015	ENSP00000362646:R956H;ENSP00000362643:R1015H;ENSP00000362640:R1015H	ENSP00000362640:R1015H	R	-	2	0	PHKA1	71738594	0.670000	0.27512	0.196000	0.23383	0.717000	0.41224	-0.411000	0.07142	-0.675000	0.05246	-1.144000	0.01866	CGT		0.358	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			T	71821869	C	T	71821869	3	4	192	1	0	0	0	0	1	0	0	0	11843	536	19	1	647	1	PHKA1	23	71821869	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	68827233	71821869	83448691	55	13586											
NPHP4	261734	broad.mit.edu	37	chr1	5969267	5969267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgaggtactggcgctGgcgggcctgggaggaagcac	8	5	18	10	3	0	0	0	0	0	0	1	4	0	2	1	6	3	3	1	6	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:5969267G>C	ENST00000378156.4	-	12	1713	c.1448C>G	c.(1447-1449)cCa>cGa	p.P483R	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	483					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGGCGCTGGCGGGCCTGG	0.642																																						uc001alq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1447-1449)cCa>cGa		Homo sapiens nephronophthisis 4 (NPHP4), mRNA.							28	36	33					1																	5969267		2004	4154	6158	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5969267G>C	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1448C>G	1.37:g.5969267G>C	ENSP00000367398:p.Pro483Arg					NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	p.P483R	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	11	1716	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	483					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1448C>G	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192553	0.21954	.	.	ENSG00000131697	ENST00000378156	D	0.87412	-2.25	3.45	1.47	0.22746	.	0.277119	0.27927	N	0.017297	T	0.79890	0.4524	L	0.54323	1.7	0.09310	N	1	P	0.39157	0.662	B	0.39419	0.299	T	0.66260	-0.5968	10	0.23302	T	0.38	.	3.8851	0.09094	0.1278:0.0:0.6357:0.2365	.	483	O75161	NPHP4_HUMAN	R	483	ENSP00000367398:P483R	ENSP00000367398:P483R	P	-	2	0	NPHP4	5891854	0.016000	0.18221	0.001000	0.08648	0.018000	0.09664	2.200000	0.42724	0.414000	0.25790	0.462000	0.41574	CCA		0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			C	5969267	G	C	5969267	3	2	193	1	0	0	0	0	1	0	0	0	10581	1348	47	5	2908	5	NPHP4	1	5969267	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		5969267	243281354	1	13587											
PRAMEF2	65122	broad.mit.edu	37	chr1	12918957	12918957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgccatggaggagctGcccagggtgctctatctccc	6	10	11	14	0	3	0	0	0	3	0	5	2	3	2	3	3	4	2	3	3	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:12918957G>A	ENST00000240189.2	+	2	180	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	31					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGAGCTGCCCAGGGTGC	0.622																																						uc001aum.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(91-93)ctG>ctA		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.							95	105	102					1																	12918957		2201	4296	6497	SO:0001819	synonymous_variant	65122							g.chr1:12918957G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.93G>A	1.37:g.12918957G>A							p.L31L	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	180	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	31						Silent	SNP	ENST00000240189.2	37	c.93G>A	CCDS149.1																																																																																				0.622	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12918957	G	A	12918957	2	1	193	1	0	0	0	0	0	0	0	1	12435	1306	46	3		3	PRAMEF2	1	12918957	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	6949690	12918957	236331664	2	13588											
MACF1	23499	broad.mit.edu	37	chr1	39753206	39753206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctccgatttgtgtatgAactactgtcttgggtagaag	10	14	10	7	1	2	2	0	1	2	1	3	3	2	2	1	1	2	2	1	1	6	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:39753206A>T	ENST00000372915.3	+	14	1859	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V	MACF1_ENST00000545844.1_Missense_Mutation_p.E591V|MACF1_ENST00000564288.1_Missense_Mutation_p.E586V|MACF1_ENST00000361689.2_Missense_Mutation_p.E591V|MACF1_ENST00000567887.1_Missense_Mutation_p.E623V|MACF1_ENST00000539005.1_Missense_Mutation_p.E591V|MACF1_ENST00000317713.7_Missense_Mutation_p.E591V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	591					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGTATGAACTACTGTCT	0.463																																						uc021olt.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1771-1773)gAa>gTa		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							157	154	155					1																	39753206		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39753206A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1772A>T	1.37:g.39753206A>T	ENSP00000362006:p.Glu591Val					MACF1_uc021ols.1_Missense_Mutation_p.E591V|MACF1_uc001cdc.2_Missense_Mutation_p.E591V|MACF1_uc001cda.1_Missense_Mutation_p.E499V	p.E591V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	1824	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	591					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1772A>T		.	.	.	.	.	.	.	.	.	.	A	32	5.163811	0.94727	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	5.4	5.4	0.78164	.	.	.	.	.	D	0.96272	0.8784	M	0.65975	2.015	0.80722	D	1	B;D	0.61697	0.003;0.99	B;P	0.61201	0.007;0.885	D	0.96771	0.9568	9	0.87932	D	0	.	15.7276	0.77774	1.0:0.0:0.0:0.0	.	591;556	F8W8Q1;Q9UPN3-3	.;.	V	591;591;591;591;591;549;740;751	ENSP00000439537:E591V;ENSP00000362006:E591V;ENSP00000354573:E591V;ENSP00000313438:E591V;ENSP00000444364:E591V;ENSP00000435070:E549V;ENSP00000437059:E740V	ENSP00000313438:E591V	E	+	2	0	MACF1	39525793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.798000	0.91888	2.180000	0.69256	0.454000	0.30748	GAA		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39753206	A	T	39753206	3	4	193	1	0	0	0	0	1	0	0	0	9144	246	9	5	1826	5	MACF1	1	39753206	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	26834249	39753206	209497415	3	13589											
FAAH	2166	broad.mit.edu	37	chr1	46871972	46871972	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcctggcactgtgcctgCgagccctgctgtgtgaggac	6	8	15	12	1	0	2	0	1	0	1	0	4	0	3	3	2	5	2	3	2	0	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:46871972C>T	ENST00000243167.8	+	7	967	c.883C>T	c.(883-885)Cga>Tga	p.R295*	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	295					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ACTGTGCCTGCGAGCCCTGCT	0.642											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cpu.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(883-885)Cga>Tga		Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	Propofol(DB00818)|Thiopental(DB00599)						82	79	80					1																	46871972		2203	4300	6503	SO:0001587	stop_gained	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46871972C>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.883C>T	1.37:g.46871972C>T	ENSP00000243167:p.Arg295*		OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	FAAH_uc001cpv.2_Intron	p.R295*	NM_001441	NP_001432	O00519	FAAH1_HUMAN			6	965	+	Acute lymphoblastic leukemia(166;0.155)		295					D3DQ19|Q52M86|Q5TDF8	Nonsense_Mutation	SNP	ENST00000243167.8	37	c.883C>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558545	0.65538	.	.	ENSG00000117480	ENST00000243167	.	.	.	5.15	0.802	0.18686	.	0.437392	0.21751	N	0.069667	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4923	16.3115	0.82873	0.7609:0.2391:0.0:0.0	.	.	.	.	X	295	.	ENSP00000243167:R295X	R	+	1	2	FAAH	46644559	0.976000	0.34144	0.990000	0.47175	0.210000	0.24377	0.219000	0.17641	-0.118000	0.11851	-0.181000	0.13052	CGA		0.642	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		T	46871972	C	T	46871972	4	4	193	1	0	0	0	0	0	1	0	0	5353	760	27	1	909	1	FAAH	1	46871972	Nonsense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	7118766	46871972	202378649	4	13590											
HOOK1	51361	broad.mit.edu	37	chr1	60312821	60312821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgactagtcttgcagaagAaacaagagccctgaaagatg	16	8	10	7	0	1	6	0	2	1	4	1	6	1	6	1	0	3	1	1	0	5	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:60312821A>T	ENST00000371208.3	+	10	1150	c.893A>T	c.(892-894)gAa>gTa	p.E298V	HOOK1_ENST00000395561.2_Missense_Mutation_p.E256V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	298	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTTGCAGAAGAAACAAGAGCC	0.348																																						uc009wad.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(892-894)gAa>gTa		Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.							133	139	137					1																	60312821		2202	4299	6501	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60312821A>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.893A>T	1.37:g.60312821A>T	ENSP00000360252:p.Glu298Val					HOOK1_uc001czo.3_Missense_Mutation_p.E298V|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E256V	p.E298V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			10	995	+	all_cancers(7;0.000129)		298			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.893A>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172138	0.78452	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.35605	1.3;1.3	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.87269	2.87	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.69800	-0.5047	10	0.49607	T	0.09	.	16.5993	0.84807	1.0:0.0:0.0:0.0	.	298	Q9UJC3	HOOK1_HUMAN	V	298;256	ENSP00000360252:E298V;ENSP00000378928:E256V	ENSP00000360252:E298V	E	+	2	0	HOOK1	60085409	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	8.957000	0.93082	2.311000	0.77944	0.528000	0.53228	GAA		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		T	60312821	A	T	60312821	3	4	193	1	0	0	0	0	1	0	0	0	7282	246	9	5	931	5	HOOK1	1	60312821	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	13440849	60312821	188937800	5	13591											
PDE4B	5142	broad.mit.edu	37	chr1	66831413	66831413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccatccatgacgttgatCatcctggagtctccaatcag	9	11	8	13	1	3	2	2	2	1	0	6	3	5	3	4	1	1	1	4	1	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:66831413C>T	ENST00000329654.4	+	13	1535	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDE4B_ENST00000371045.5_Missense_Mutation_p.H278Y|PDE4B_ENST00000371049.3_Missense_Mutation_p.H450Y|PDE4B_ENST00000423207.2_Missense_Mutation_p.H435Y|PDE4B_ENST00000480109.2_Missense_Mutation_p.H217Y	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	450					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGACGTTGATCATCCTGGAGT	0.418																																						uc001dcn.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(1348-1350)Cat>Tat		Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						104	99	101					1																	66831413		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66831413C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1348C>T	1.37:g.66831413C>T	ENSP00000332116:p.His450Tyr					PDE4B_uc009war.3_Missense_Mutation_p.H358Y|PDE4B_uc001dco.3_Missense_Mutation_p.H450Y|PDE4B_uc001dcp.3_Missense_Mutation_p.H435Y|PDE4B_uc001dcq.3_Missense_Mutation_p.H278Y|PDE4B_uc009was.3_Missense_Mutation_p.H217Y	p.H450Y	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN			12	1539	+			450					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1348C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664363	0.88251	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.08	5.08	0.68730	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.046253	0.85682	N	0.000000	D	0.96996	0.9019	H	0.98295	4.195	0.80722	D	1	P;D;D;D;D	0.89917	0.924;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.707;1.0;1.0;1.0;1.0	D	0.98078	1.0402	10	0.87932	D	0	.	19.0331	0.92965	0.0:1.0:0.0:0.0	.	217;435;320;440;450	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	Y	450;450;450;435;278;217	ENSP00000332116:H450Y;ENSP00000342637:H450Y;ENSP00000360088:H450Y;ENSP00000392947:H435Y;ENSP00000360084:H278Y;ENSP00000432592:H217Y	ENSP00000332116:H450Y	H	+	1	0	PDE4B	66604001	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.609000	0.82925	2.802000	0.96397	0.655000	0.94253	CAT		0.418	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		T	66831413	C	T	66831413	3	4	193	1	0	0	0	0	1	0	0	0	11640	826	29	3	1752	3	PDE4B	1	66831413	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	6518592	66831413	182419208	6	13592											
SLC44A3	126969	broad.mit.edu	37	chr1	95322914	95322914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggttatggaaggcGgccaagtggaatataagccc	11	7	13	10	1	0	0	0	0	0	0	0	2	0	2	3	5	2	1	3	5	6	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:95322914G>A	ENST00000271227.6	+	10	1198	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	SLC44A3_ENST00000530397.1_3'UTR|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.G286S|SLC44A3_ENST00000529450.1_Missense_Mutation_p.G334S|SLC44A3_ENST00000527077.1_Missense_Mutation_p.G298S|SLC44A3_ENST00000467909.1_Missense_Mutation_p.G318S|SLC44A3_ENST00000446120.2_Missense_Mutation_p.G330S	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	366					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATGGAAGGCGGCCAAGTGGA	0.458																																						uc001dqv.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1096-1098)Ggc>Agc		Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	Choline(DB00122)						129	115	120					1																	95322914		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95322914G>A	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1096G>A	1.37:g.95322914G>A	ENSP00000271227:p.Gly366Ser					SLC44A3_uc001dqx.4_Missense_Mutation_p.G366S|SLC44A3_uc010otq.2_Missense_Mutation_p.G298S|SLC44A3_uc010otr.2_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.4_Missense_Mutation_p.G318S|SLC44A3_uc010ots.2_Missense_Mutation_p.G286S|SLC44A3_uc009wds.3_Missense_Mutation_p.G269S|SLC44A3_uc010ott.2_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_Non-coding_Transcript	p.G366S	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	9	1203	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	366					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1096G>A	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950274	0.73787	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000019	T	0.32406	0.0828	L	0.46670	1.46	0.58432	D	0.999996	P;P;D;P;P	0.89917	0.944;0.815;1.0;0.944;0.944	B;B;D;B;B	0.97110	0.414;0.342;1.0;0.414;0.414	T	0.04737	-1.0930	10	0.54805	T	0.06	-18.0227	17.8262	0.88666	0.0:0.0:1.0:0.0	.	286;330;298;334;366	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	S	330;366;298;334;318;286	ENSP00000389143:G330S;ENSP00000271227:G366S;ENSP00000433641:G298S;ENSP00000431836:G334S;ENSP00000432789:G318S;ENSP00000436661:G286S	ENSP00000271227:G366S	G	+	1	0	SLC44A3	95095502	1.000000	0.71417	0.949000	0.38748	0.918000	0.54935	5.642000	0.67888	2.453000	0.82957	0.655000	0.94253	GGC		0.458	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		A	95322914	G	A	95322914	3	1	193	1	0	0	0	0	1	0	0	0	14637	1116	39	2	1134	2	SLC44A3	1	95322914	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	28491501	95322914	153927707	7	13593											
FLG2	388698	broad.mit.edu	37	chr1	152327770	152327770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgctgtccaaagccaGaggattgtcctgagccagac	11	8	10	12	0	1	3	1	1	0	2	3	4	3	4	4	1	3	1	4	1	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:152327770G>T	ENST00000388718.5	-	3	2564	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	831	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTGTCC	0.517																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2491-2493)tCt>tAt		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							313	302	306					1																	152327770		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327770G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2492C>A	1.37:g.152327770G>T	ENSP00000373370:p.Ser831Tyr					AK056431_uc001ezv.3_Intron	p.S831Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2565	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		831			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2492C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578209	0.28180	.	.	ENSG00000143520	ENST00000388718	T	0.04015	3.73	4.72	3.8	0.43715	.	.	.	.	.	T	0.09069	0.0224	M	0.69823	2.125	0.09310	N	1	D	0.69078	0.997	D	0.64042	0.921	T	0.06881	-1.0802	9	0.56958	D	0.05	3.32	12.4267	0.55551	0.0:0.0:0.8307:0.1693	.	831	Q5D862	FILA2_HUMAN	Y	831	ENSP00000373370:S831Y	ENSP00000373370:S831Y	S	-	2	0	FLG2	150594394	0.012000	0.17670	0.006000	0.13384	0.002000	0.02628	0.944000	0.29043	1.130000	0.42092	-0.175000	0.13238	TCT		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152327770	G	T	152327770	3	4	193	1	0	0	0	0	1	0	0	0	5923	942	33	5	4687	5	FLG2	1	152327770	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	57004856	152327770	96922851	8	13594											
GORAB	92344	broad.mit.edu	37	chr1	170508571	170508571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcactctcacctccccCgttggtgatggacaaccaca	9	10	6	16	1	2	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:170508571C>T	ENST00000367763.3	+	2	377	c.357C>T	c.(355-357)ccC>ccT	p.P119P	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Silent_p.P119P	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	119						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACCTCCCCCGTTGGTGATG	0.468																																						uc001gha.2																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(355-357)ccC>ccT		Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.							104	101	102					1																	170508571		2203	4300	6503	SO:0001819	synonymous_variant	92344					Golgi apparatus|nucleus		g.chr1:170508571C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.357C>T	1.37:g.170508571C>T						GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	p.P119P	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			1	384	+			119					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	ENST00000367763.3	37	c.357C>T	CCDS1289.1																																																																																				0.468	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		T	170508571	C	T	170508571	2	4	193	1	0	0	0	0	0	0	0	1	6574	639	23	2		2	GORAB	1	170508571	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	18180801	170508571	78742050	9	13595											
NEK7	140609	broad.mit.edu	37	chr1	198262082	198262082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttttgcagttggtacGccttattacatgtctccaga	7	18	8	8	1	1	1	0	0	1	1	2	1	1	1	2	1	3	4	2	1	3	7	rs201676070		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:198262082G>A	ENST00000367385.4	+	8	939	c.597G>A	c.(595-597)acG>acA	p.T199T	NEK7_ENST00000538004.1_Silent_p.T199T	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CAGTTGGTACGCCTTATTACA	0.323													G|||	1	0.000199681	0	0	5008	,	,		15136	0.001		0	False		,,,				2504	0					uc001gun.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(595-597)acG>acA		Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.							170	181	177					1																	198262082		2203	4299	6502	SO:0001819	synonymous_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198262082G>A	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.597G>A	1.37:g.198262082G>A						NEK7_uc021pgx.1_Silent_p.T199T	p.T199T	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN			7	924	+			199			Protein kinase.		A6NGT8	Silent	SNP	ENST00000367385.4	37	c.597G>A	CCDS1394.1																																																																																				0.323	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		A	198262082	G	A	198262082	2	1	193	1	0	0	0	0	0	0	0	1	10329	1074	38	1		1	NEK7	1	198262082	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	27753511	198262082	50988539	10	13596											
HNRNPU	3192	broad.mit.edu	37	chr1	245025769	245025769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcttcacttacaagtatCaagacaaaccactgtgtcat	15	10	5	11	0	3	1	3	0	0	1	3	1	3	1	1	0	3	2	1	0	5	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:245025769C>G	ENST00000283179.9	-	3	1034	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HNRNPU_ENST00000444376.2_Missense_Mutation_p.D272H|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	291	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACAAGTATCAAGACAAACC	0.378																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(871-873)Gat>Cat		Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.							128	120	123					1																	245025769		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245025769C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.871G>C	1.37:g.245025769C>G	ENSP00000283179:p.Asp291His					HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.D272H	p.D291H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		2	1089	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		291			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.871G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127672	0.94473	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.80653	-1.4;-1.4;-1.4	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.93276	0.6656	10	0.87932	D	0	-19.8294	19.2214	0.93797	0.0:1.0:0.0:0.0	.	272;291	Q00839-2;Q00839	.;HNRPU_HUMAN	H	272;291;216;68	ENSP00000393151:D272H;ENSP00000283179:D291H;ENSP00000410728:D68H	ENSP00000283179:D291H	D	-	1	0	HNRNPU	243092392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.543000	0.85770	0.650000	0.86243	GAT		0.378	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		G	245025769	C	G	245025769	3	3	193	1	0	0	0	0	1	0	0	0	7273	826	29	5	1654	5	HNRNPU	1	245025769	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	46763687	245025769	4224852	11	13597											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912727	10912727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagacatggtggtccctcGatcaaccaagtaagtgagac	12	8	10	11	1	2	2	2	1	0	2	4	4	3	2	2	2	1	1	2	2	3	1	rs267598832		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:10912727G>A	ENST00000272238.4	+	8	738	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.R210Q|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	210					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GTGGTCCCTCGATCAACCAAG	0.507																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.3																			0		p.P209P(1)|p.R210R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(628-630)cGa>cAa		Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.							233	235	234					2																	10912727		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912727G>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.629G>A	2.37:g.10912727G>A	ENSP00000272238:p.Arg210Gln					ATP6V1C2_uc002rat.3_Missense_Mutation_p.R210Q	p.R210Q	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	7	738	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		210					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.629G>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743612	0.89663	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.50548	0.74;0.74	5.12	5.12	0.69794	.	0.055061	0.64402	D	0.000001	T	0.75413	0.3846	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81415	-0.0943	10	0.72032	D	0.01	-10.3955	18.159	0.89702	0.0:0.0:1.0:0.0	.	210;210	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	Q	210	ENSP00000272238:R210Q;ENSP00000371077:R210Q	ENSP00000272238:R210Q	R	+	2	0	ATP6V1C2	10830178	1.000000	0.71417	0.997000	0.53966	0.584000	0.36387	9.512000	0.98008	2.393000	0.81446	0.561000	0.74099	CGA		0.507	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		A	10912727	G	A	10912727	3	1	193	1	0	0	0	0	1	0	0	0	1181	1058	37	2	655	2	ATP6V1C2	2	10912727	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		10912727	232286646	12	13598											
TET3	200424	broad.mit.edu	37	chr2	74328397	74328397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgggggctgttcccCggtgaggggcagcaggcagc	5	5	20	11	1	0	1	0	1	0	0	1	1	1	1	3	7	2	5	3	7	0	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:74328397C>T	ENST00000409262.3	+	9	4077	c.4077C>T	c.(4075-4077)ccC>ccT	p.P1359P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1359					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.P636P(1)|p.P1359P(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGTTCCCCGGTGAGGGGC	0.657																																						uc002skb.4																			2	Substitution - coding silent(2)	p.P1359P(2)|p.P636P(1)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4075-4077)ccC>ccT		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.							20	24	23					2																	74328397		1890	4105	5995	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328397C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4077C>T	2.37:g.74328397C>T							p.P1359P	NM_144993	NP_659430	O43151	TET3_HUMAN			8	4077	+			1359					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.4077C>T	CCDS46339.1																																																																																				0.657	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74328397	C	T	74328397	2	4	193	1	0	0	0	0	0	0	0	1	15768	639	23	2		2	TET3	2	74328397	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	63415670	74328397	168870976	13	13599											
RANBP2	5903	broad.mit.edu	37	chr2	109388156	109388156	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttgactggtgttacaGcaaaagagaagaaaaaacct	16	12	8	5	0	0	3	0	1	0	2	0	4	0	3	1	1	3	2	1	1	7	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:109388156G>A	ENST00000283195.6	+	21	7975		c.e21-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTGTTACAGCAAAAGAGAA	0.348																																						uc002tem.4																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e21-1		Homo sapiens RAN binding protein 2 (RANBP2), mRNA.							94	106	102					2																	109388156		2203	4300	6503	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109388156G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7850-1G>A	2.37:g.109388156G>A							p.A2617_splice	NM_006267	NP_006258	P49792	RBP2_HUMAN			21	7976	+			2617					Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.7850_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145368	0.57044	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4874	0.90834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108754588	0.994000	0.37717	0.308000	0.25141	0.123000	0.20343	3.704000	0.54815	2.443000	0.82685	0.467000	0.42956	.		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	A	109388156	G	A	109388156	5	1	193	1	0	0	0	0	0	0	1	0	13028	985	34	3	7931	3	RANBP2	2	109388156	Splice_Site	SNP	G	TCGA-27-2521-01A-01D-1494-08	35059759	109388156	133811217	14	13600											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	193	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	99724956	209113112	34086261	15	13601											
SCLY	51540	broad.mit.edu	37	chr2	239002554	239002554	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaggcccacatgagggAcgtccgcgactacctggaag	10	7	13	11	3	0	2	0	2	0	0	1	5	1	4	3	3	1	0	3	3	3	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:239002554A>T	ENST00000555827.1	+	9	1038	c.974A>T	c.(973-975)gAc>gTc	p.D325V	SCLY_ENST00000422984.2_Missense_Mutation_p.D231V|SCLY_ENST00000429612.2_Missense_Mutation_p.D119V|SCLY_ENST00000254663.6_Missense_Mutation_p.D333V			Q96I15	SCLY_HUMAN	selenocysteine lyase	325					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACATGAGGGACGTCCGCGAC	0.622																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(973-975)gAc>gTc		Homo sapiens selenocysteine lyase (SCLY), mRNA.							41	37	38					2																	239002554		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:239002554A>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.974A>T	2.37:g.239002554A>T	ENSP00000450613:p.Asp325Val					SCLY_uc002vxm.4_Missense_Mutation_p.D292V|SCLY_uc010znr.2_Missense_Mutation_p.D231V|SCLY_uc010znq.2_Missense_Mutation_p.D119V	p.D325V	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	8	1105	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	325					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.974A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	4.259|4.259	0.047079|0.047079	0.08243|0.08243	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000422984;ENST00000429612;ENST00000450965|ENST00000433750	D;D;D;T;D|.	0.86694|.	-2.16;-2.16;-2.16;0.89;-2.16|.	5.2|5.2	0.0142|0.0142	0.14099|0.14099	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);|.	0.941356|.	0.09064|.	N|.	0.853937|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.41236|0.41236	1.265|1.265	0.20638|0.20638	N|N	0.99988|0.99988	B;B;B|.	0.24963|.	0.115;0.102;0.066|.	B;B;B|.	0.32393|.	0.145;0.022;0.103|.	T|T	0.27640|0.27640	-1.0068|-1.0068	10|5	0.41790|.	T|.	0.15|.	-13.6956|-13.6956	4.8899|4.8899	0.13722|0.13722	0.5354:0.3025:0.1621:0.0|0.5354:0.3025:0.1621:0.0	.|.	231;119;325|.	E7ESG3;E7ESH3;Q96I15|.	.;.;SCLY_HUMAN|.	V|S	333;325;231;119;155|67	ENSP00000254663:D333V;ENSP00000450613:D325V;ENSP00000416865:D231V;ENSP00000393694:D119V;ENSP00000414053:D155V|.	ENSP00000254663:D325V|.	D|T	+|+	2|1	0|0	SCLY|SCLY	238667293|238667293	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.041000|0.041000	0.13682|0.13682	0.234000|0.234000	0.17930|0.17930	-0.226000|-0.226000	0.09899|0.09899	0.492000|0.492000	0.49549|0.49549	GAC|ACG		0.622	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		T	239002554	A	T	239002554	3	4	193	1	0	0	0	0	1	0	0	0	13907	275	10	5	1008	5	SCLY	2	239002554	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	29889442	239002554	4196819	16	13602											
STAB1	23166	broad.mit.edu	37	chr3	52536060	52536060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccccatgcaatggccacGggacctgcttggatggcatg	9	7	13	12	1	0	1	0	0	0	1	0	3	0	3	4	4	2	3	4	4	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:52536060G>A	ENST00000321725.6	+	4	446	c.370G>A	c.(370-372)Ggg>Agg	p.G124R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	124	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAATGGCCACGGGACCTGCTT	0.637																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(370-372)Ggg>Agg		Homo sapiens stabilin 1 (STAB1), mRNA.							55	59	58					3																	52536060		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52536060G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.370G>A	3.37:g.52536060G>A	ENSP00000312946:p.Gly124Arg					STAB1_uc003dei.1_Missense_Mutation_p.G124R	p.G124R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	3	444	+			124			EGF-like 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.370G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564404	0.86335	.	.	ENSG00000010327	ENST00000321725	D	0.92647	-3.08	4.36	4.36	0.52297	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.91038	3.17	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	D	0.96963	0.9703	10	0.87932	D	0	.	12.7502	0.57304	0.0:0.0:1.0:0.0	.	124;124	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	R	124	ENSP00000312946:G124R	ENSP00000312946:G124R	G	+	1	0	STAB1	52511100	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.736000	0.74811	2.145000	0.66743	0.514000	0.50259	GGG		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52536060	G	A	52536060	3	1	193	1	0	0	0	0	1	0	0	0	15236	1116	39	2	384	2	STAB1	3	52536060	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		52536060	145486370	17	13603											
MINA	84864	broad.mit.edu	37	chr3	97664110	97664110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtagtaagtttcaggtccTtgacagaaatagctggacta	12	12	10	7	0	1	2	1	1	0	1	2	3	2	3	1	2	1	4	1	2	5	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:97664110T>C	ENST00000333396.7	-	10	1898	c.1316A>G	c.(1315-1317)aAg>aGg	p.K439R	MINA_ENST00000360258.4_Missense_Mutation_p.K438R|MINA_ENST00000394198.2_Missense_Mutation_p.K439R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCAGGTCCTTGACAGAAAT	0.383																																						uc003drz.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1315-1317)aAg>aGg		Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.							103	106	105					3																	97664110		2203	4299	6502	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97664110T>C	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1316A>G	3.37:g.97664110T>C	ENSP00000328251:p.Lys439Arg					MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	p.K439R	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN			9	1822	-			439						Missense_Mutation	SNP	ENST00000333396.7	37	c.1316A>G	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973683	0.53720	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.12879	2.64;2.64;2.64	6.02	6.02	0.97574	.	0.316221	0.38058	N	0.001837	T	0.17959	0.0431	M	0.82323	2.585	0.80722	D	1	P;B	0.34615	0.459;0.329	B;B	0.29598	0.104;0.048	T	0.03394	-1.1041	10	0.23302	T	0.38	-21.7749	10.8164	0.46578	0.0:0.07:0.0:0.93	.	438;439	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	R	185;439;439;438	ENSP00000328251:K439R;ENSP00000377748:K439R;ENSP00000353395:K438R	ENSP00000328251:K439R	K	-	2	0	MINA	99146800	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	2.132000	0.42083	2.311000	0.77944	0.533000	0.62120	AAG		0.383	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		C	97664110	T	C	97664110	3	2	193	1	0	0	0	0	1	0	0	0	9586	1609	56	4	85	4	MINA	3	97664110	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	45128050	97664110	100358320	18	13604											
EAF2	55840	broad.mit.edu	37	chr3	121554141	121554141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagagtaattatgaatagCgcagcgggattctcacacct	13	9	11	8	2	1	2	1	1	1	1	2	4	1	3	1	2	2	2	1	2	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:121554141C>A	ENST00000273668.2	+	1	80	c.9C>A	c.(7-9)agC>agA	p.S3R	IQCB1_ENST00000310864.6_5'Flank|EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Missense_Mutation_p.S3R|IQCB1_ENST00000349820.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	3					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTATGAATAGCGCAGCGGGAT	0.572																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(7-9)agC>agA		Homo sapiens ELL associated factor 2 (EAF2), mRNA.							64	64	64					3																	121554141		2203	4300	6503	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554141C>A	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.9C>A	3.37:g.121554141C>A	ENSP00000273668:p.Ser3Arg					IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	p.S3R	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	0	108	+			3					Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.9C>A	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397822	0.42512	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.66	-0.811	0.10857	.	0.108661	0.64402	D	0.000006	T	0.13329	0.0323	N	0.08118	0	0.09310	N	0.99999	B	0.28082	0.2	B	0.24269	0.052	T	0.10660	-1.0620	9	0.66056	D	0.02	-4.7273	1.7381	0.02946	0.2261:0.337:0.3014:0.1355	.	3	Q96CJ1	EAF2_HUMAN	R	3	.	ENSP00000273668:S3R	S	+	3	2	EAF2	123036831	0.873000	0.30073	0.127000	0.21898	0.006000	0.05464	0.700000	0.25601	-0.114000	0.11936	-0.251000	0.11542	AGC		0.572	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		A	121554141	C	A	121554141	3	1	193	1	0	0	0	0	1	0	0	0	4876	767	27	5	11	5	EAF2	3	121554141	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	23890031	121554141	76468289	19	13605											
CLSTN2	64084	broad.mit.edu	37	chr3	140281698	140281698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgctacatcacatccGctaccgcaactggcgtccgg	8	7	11	15	4	1	0	1	0	0	0	3	0	3	0	3	3	4	4	3	3	3	2	rs200855654		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:140281698G>A	ENST00000458420.3	+	14	2448	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	753					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCACATCCGCTACCGCAAC	0.552										HNSCC(16;0.037)			G|||	1	0.000199681	0	0.0014	5008	,	,		20764	0		0	False		,,,				2504	0				GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2257-2259)cGc>cAc		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.							58	56	57					3																	140281698		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281698G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2258G>A	3.37:g.140281698G>A	ENSP00000402460:p.Arg753His	HNSCC(16;0.037)					p.R753H	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			13	2448	+			753					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2258G>A	CCDS3112.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.25	1.582887	0.28268	.	.	ENSG00000158258	ENST00000458420	T	0.33654	1.4	4.83	3.04	0.35103	.	0.101356	0.64402	N	0.000003	T	0.33000	0.0848	M	0.71581	2.175	0.46927	D	0.99925	B	0.28850	0.225	B	0.20184	0.028	T	0.08166	-1.0735	9	.	.	.	-4.8878	9.572	0.39433	0.1752:0.0:0.8248:0.0	.	753	Q9H4D0	CSTN2_HUMAN	H	753	ENSP00000402460:R753H	.	R	+	2	0	CLSTN2	141764388	1.000000	0.71417	0.978000	0.43139	0.162000	0.22319	4.201000	0.58439	0.572000	0.29383	-0.993000	0.02533	CGC		0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		A	140281698	G	A	140281698	3	1	193	1	0	0	0	0	1	0	0	0	3562	1087	38	1	2312	1	CLSTN2	3	140281698	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	18727557	140281698	57740732	20	13606											
LRRIQ4	344657	broad.mit.edu	37	chr3	169555374	169555374	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaaagataagaaaggAaagaaggatgtaaaaggaaa	23	5	10	3	0	1	3	0	0	1	3	2	6	1	6	1	3	0	1	1	3	9	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:169555374A>G	ENST00000340806.6	+	5	1638	c.1638A>G	c.(1636-1638)ggA>ggG	p.G546G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	546										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAAGAAAGGAAAGAAGGATG	0.363																																						uc003fgb.3																			0		p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1636-1638)ggA>ggG		Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.							52	47	48					3																	169555374		1814	4083	5897	SO:0001819	synonymous_variant	344657							g.chr3:169555374A>G		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1638A>G	3.37:g.169555374A>G							p.G546G	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			4	1638	+			546						Silent	SNP	ENST00000340806.6	37	c.1638A>G	CCDS46951.1																																																																																				0.363	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		G	169555374	A	G	169555374	2	3	193	1	0	0	0	0	0	0	0	1	9031	233	9	4		4	LRRIQ4	3	169555374	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08	29273676	169555374	28467056	21	13607											
SLC7A14	57709	broad.mit.edu	37	chr3	170219101	170219101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcagatcctgtggtcttgGggactcgaactccaaactct	9	10	11	11	1	2	1	0	0	2	1	5	3	4	2	2	4	2	1	2	4	2	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:170219101G>A	ENST00000231706.5	-	3	653	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	113					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTGGTCTTGGGGACTCGAAC	0.507																																						uc003fgz.2																			0		p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(337-339)cCc>cTc		Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.							74	72	73					3																	170219101		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170219101G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.338C>T	3.37:g.170219101G>A	ENSP00000231706:p.Pro113Leu					CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	p.P113L	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		2	654	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		113					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.338C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365930	0.95900	.	.	ENSG00000013293	ENST00000231706	D	0.89552	-2.53	5.59	5.59	0.84812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96920	0.9673	10	0.87932	D	0	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	113	Q8TBB6	S7A14_HUMAN	L	113	ENSP00000231706:P113L	ENSP00000231706:P113L	P	-	2	0	SLC7A14	171701795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.783000	0.95769	0.655000	0.94253	CCC		0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170219101	G	A	170219101	3	1	193	1	0	0	0	0	1	0	0	0	14696	1232	43	3	2001	3	SLC7A14	3	170219101	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	663727	170219101	27803329	22	13608											
CSF2	1437	broad.mit.edu	37	chr5	131409784	131409784	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctacagaatgaaacagTagaagtcatctcagaaatgt	16	12	7	6	0	3	4	2	1	2	3	4	4	3	4	0	0	2	1	0	0	6	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:131409784T>C	ENST00000296871.2	+	2	204	c.170T>C	c.(169-171)gTa>gCa	p.V57A		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	57					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGAAACAGTAGAAGTCATC	0.517																																						uc003kwf.3																			0				skin(1)	1						c.(169-171)gTa>gCa		Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	Sargramostim(DB00020)						67	65	65					5																	131409784		2203	4300	6503	SO:0001583	missense	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409784T>C	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"sargramostim", "molgramostin", "granulocyte-macrophage colony stimulating factor"	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.170T>C	5.37:g.131409784T>C	ENSP00000296871:p.Val57Ala						p.V57A	NM_000758	NP_000749	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	202	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	57					Q14CE8|Q2VPI8|Q8NFI6	Missense_Mutation	SNP	ENST00000296871.2	37	c.170T>C	CCDS4150.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424682	0.25639	.	.	ENSG00000164400	ENST00000296871	T	0.39406	1.08	4.8	2.37	0.29283	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.298038	0.24341	N	0.039377	T	0.55194	0.1905	M	0.64170	1.965	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42275	-0.9461	10	0.87932	D	0	-0.1637	6.1564	0.20340	0.0:0.2129:0.0:0.7871	.	57	P04141	CSF2_HUMAN	A	57	ENSP00000296871:V57A	ENSP00000296871:V57A	V	+	2	0	CSF2	131437683	0.274000	0.24191	0.015000	0.15790	0.023000	0.10783	0.719000	0.25881	0.411000	0.25702	-0.290000	0.09829	GTA		0.517	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		C	131409784	T	C	131409784	3	2	193	1	0	0	0	0	1	0	0	0	3933	1638	57	4	176	4	CSF2	5	131409784	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08		131409784	49505476	23	13609											
PDE6A	5145	broad.mit.edu	37	chr5	149323959	149323959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatgaacaggctcatgCggtctgcctgcaggaggaag	10	7	15	9	1	2	1	1	1	1	0	2	3	2	3	1	5	5	3	1	5	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:149323959C>T	ENST00000255266.5	-	1	397	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	93	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CAGGCTCATGCGGTCTGCCTG	0.522																																						uc003lrg.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(277-279)cGc>cAc		Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.							78	78	78					5																	149323959		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149323959C>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.278G>A	5.37:g.149323959C>T	ENSP00000255266:p.Arg93His					PDE6A_uc021yfs.1_Missense_Mutation_p.R93H	p.R93H	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		0	398	-			93			GAF 1.		Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.278G>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238273	0.79800	.	.	ENSG00000132915	ENST00000255266	T	0.74842	-0.88	5.47	5.47	0.80525	GAF (2);	0.055697	0.64402	D	0.000001	D	0.83880	0.5350	H	0.95402	3.665	0.54753	D	0.999986	P	0.39940	0.696	B	0.40940	0.344	D	0.87992	0.2750	10	0.62326	D	0.03	.	16.8098	0.85716	0.0:1.0:0.0:0.0	.	93	P16499	PDE6A_HUMAN	H	93	ENSP00000255266:R93H	ENSP00000255266:R93H	R	-	2	0	PDE6A	149304152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.081000	0.71309	2.569000	0.86673	0.561000	0.74099	CGC		0.522	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			T	149323959	C	T	149323959	3	4	193	1	0	0	0	0	1	0	0	0	11645	768	27	1	2392	1	PDE6A	5	149323959	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	17914175	149323959	31591301	24	13610											
SOX30	11063	broad.mit.edu	37	chr5	157065654	157065654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagcagcactggagacGctgggctggaaaagtgtgac	11	6	15	9	1	0	3	0	2	0	1	0	5	0	4	1	3	2	4	1	3	2	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:157065654G>A	ENST00000265007.6	-	4	1805	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	SOX30_ENST00000519442.1_Silent_p.S183S|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	488					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGGAGACGCTGGGCTGGA	0.532																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1462-1464)agC>agT		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							60	61	61					5																	157065654		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065654G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1464C>T	5.37:g.157065654G>A						SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	p.S488S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1806	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	488					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.1464C>T	CCDS4339.1																																																																																				0.532	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		A	157065654	G	A	157065654	2	1	193	1	0	0	0	0	0	0	0	1	14952	1078	38	1		1	SOX30	5	157065654	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	7741695	157065654	23849606	25	13611											
FARS2	10667	broad.mit.edu	37	chr6	5613545	5613545	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctcatagacaagtttgtAcatccaaagtaagtgaaaag	17	10	8	6	0	1	2	1	1	1	1	3	3	2	2	1	0	1	3	1	0	7	4	rs147628137		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:5613545A>T	ENST00000324331.6	+	6	1545	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V	FARS2_ENST00000274680.4_Silent_p.V403V			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	403	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ACAAGTTTGTACATCCAAAGT	0.393																																						uc010jnv.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1207-1209)gtA>gtT		Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Phenylalanine(DB00120)						97	96	96					6																	5613545		2203	4300	6503	SO:0001819	synonymous_variant	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5613545A>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1209A>T	6.37:g.5613545A>T						FARS2_uc003mwr.2_Silent_p.V403V	p.V403V	NM_006567	NP_006558	O95363	SYFM_HUMAN			5	1545	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	403			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	c.1209A>T	CCDS4494.1																																																																																				0.393	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		T	5613545	A	T	5613545	2	4	193	1	0	0	0	0	0	0	0	1	5678	378	14	5		5	FARS2	6	5613545	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		5613545	165501522	26	13612											
MDC1	9656	broad.mit.edu	37	chr6	30680501	30680501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgagacttcttcctcGtcatctgtatcgctgttgat	5	16	9	11	2	3	2	1	2	2	1	6	3	4	2	1	0	1	5	1	0	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:30680501G>A	ENST00000376406.3	-	5	1865	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.D406D	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	406	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTCTTCCTCGTCATCTGTAT	0.522								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1216-1218)gaC>gaT	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							88	87	87					6																	30680501		1510	2708	4218	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680501G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1218C>T	6.37:g.30680501G>A						MDC1_uc003nrf.4_Silent_p.D60D|MDC1_uc011dmp.1_Silent_p.D278D|MDC1_uc003nrh.1_Silent_p.D278D|MDC1_uc003nri.2_Silent_p.D406D	p.D406D	NM_014641	NP_055456	Q14676	MDC1_HUMAN			4	1658	-			406			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.1218C>T	CCDS34384.1																																																																																				0.522	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30680501	G	A	30680501	2	1	193	1	0	0	0	0	0	0	0	1	9403	1136	40	1		1	MDC1	6	30680501	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	25066956	30680501	140434566	27	13613											
LTA	4049	broad.mit.edu	37	chr6	31540609	31540609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggttctgctgccTggggcccaggtgaggcagca	4	9	16	12	0	1	1	0	1	1	0	1	1	1	1	2	5	5	6	2	5	0	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:31540609T>C	ENST00000454783.1	+	2	348	c.90T>C	c.(88-90)ccT>ccC	p.P30P	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Silent_p.P30P	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	30					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TTCTGCTGCCTGGGGCCCAGG	0.632																																						uc011dnu.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(88-90)ccT>ccC		Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	Etanercept(DB00005)						64	67	66					6																	31540609		1511	2708	4219	SO:0001819	synonymous_variant	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31540609T>C	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.90T>C	6.37:g.31540609T>C						LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	p.P30P	NM_001159740	NP_001153212	P01374	TNFB_HUMAN			1	303	+			30					Q8N4C3|Q9UKS8	Silent	SNP	ENST00000454783.1	37	c.90T>C	CCDS4701.1																																																																																				0.632	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			C	31540609	T	C	31540609	2	2	193	1	0	0	0	0	0	0	0	1	9068	1567	55	4		4	LTA	6	31540609	Silent	SNP	T	TCGA-27-2521-01A-01D-1494-08	860108	31540609	139574458	28	13614											
GRM4	2914	broad.mit.edu	37	chr6	34003985	34003985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggtggtggcatagcacagGaagatgcctgccagcagcac	12	5	14	10	0	0	1	0	0	0	1	0	2	0	2	2	4	5	4	2	4	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:34003985G>A	ENST00000538487.2	-	9	2345	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	GRM4_ENST00000455714.2_Silent_p.F494F|GRM4_ENST00000374177.3_Silent_p.F518F|GRM4_ENST00000535756.1_Silent_p.F501F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.F634F|GRM4_ENST00000544773.2_Silent_p.F465F|GRM4_ENST00000609222.1_Silent_p.F501F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	634					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATAGCACAGGAAGATGCCTG	0.592																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1900-1902)ttC>ttT		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						97	83	88					6																	34003985		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003985G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1902C>T	6.37:g.34003985G>A						GRM4_uc011dsn.2_Silent_p.F587F|GRM4_uc010jvh.3_Silent_p.F634F|GRM4_uc010jvi.3_Silent_p.F326F|GRM4_uc003oio.3_Silent_p.F326F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F494F|GRM4_uc003oiq.3_Silent_p.F501F|GRM4_uc011dsm.2_Silent_p.F465F	p.F634F	NM_000841	NP_000832	Q14833	GRM4_HUMAN			7	2265	-			634					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1902C>T	CCDS4787.1																																																																																				0.592	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	34003985	G	A	34003985	2	1	193	1	0	0	0	0	0	0	0	1	6799	1165	41	3		3	GRM4	6	34003985	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	2463376	34003985	137111082	29	13615											
LAMA2	3908	broad.mit.edu	37	chr6	129663557	129663557	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatactatggaattgtcaagGgattgccaaatgactgtcag	13	11	11	6	0	2	1	2	1	0	0	2	4	2	3	1	2	2	0	1	2	5	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:129663557G>T	ENST00000421865.2	+	30	4430	c.4381G>T	c.(4381-4383)Gga>Tga	p.G1461*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1461	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTGTCAAGGGATTGCCAAA	0.403																																						uc021zfb.1																			0		p.K1460K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4381-4383)Gga>Tga		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							162	150	154					6																	129663557		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129663557G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4381G>T	6.37:g.129663557G>T	ENSP00000400365:p.Gly1461*					LAMA2_uc003qbn.3_Nonsense_Mutation_p.G1461*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.G1461*	p.G1461*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4486	+			1461			Laminin EGF-like 15.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.4381G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	45	11.735711	0.99597	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6919	0.91586	0.0:0.0:1.0:0.0	.	.	.	.	X	1461	.	ENSP00000346769:G1461X	G	+	1	0	LAMA2	129705250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.702000	0.74628	2.785000	0.95823	0.655000	0.94253	GGA		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129663557	G	T	129663557	4	4	193	1	0	0	0	0	0	1	0	0	8606	1233	43	5	4499	5	LAMA2	6	129663557	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	95659572	129663557	41451510	30	13616											
HIVEP2	3097	broad.mit.edu	37	chr6	143093267	143093267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgataggactgctgcTgcacctgctgagatggagag	8	10	16	7	0	0	3	0	2	0	2	0	6	0	4	1	2	4	4	1	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:143093267T>C	ENST00000367604.1	-	4	3248	c.2609A>G	c.(2608-2610)cAg>cGg	p.Q870R	HIVEP2_ENST00000367603.2_Missense_Mutation_p.Q870R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q870R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	870					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTGCTGCTGCACCTGCTG	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.3																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(2608-2610)cAg>cGg		Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.							73	80	77					6																	143093267		2080	4223	6303	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143093267T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2609A>G	6.37:g.143093267T>C	ENSP00000356576:p.Gln870Arg						p.Q870R	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	4	3352	-			870					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.2609A>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	0.134	-1.110597	0.01813	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.10960	2.82;2.82;2.82	4.98	-4.73	0.03259	.	0.764118	0.13130	N	0.411560	T	0.02230	0.0069	L	0.36672	1.1	0.09310	N	1	B	0.27559	0.181	B	0.18561	0.022	T	0.37842	-0.9688	10	0.10902	T	0.67	-15.2404	17.5008	0.87731	0.0:0.0:0.7309:0.2691	.	870	P31629	ZEP2_HUMAN	R	870	ENSP00000356576:Q870R;ENSP00000356575:Q870R;ENSP00000012134:Q870R	ENSP00000012134:Q870R	Q	-	2	0	HIVEP2	143134960	0.028000	0.19301	0.001000	0.08648	0.375000	0.29983	0.076000	0.14712	-1.005000	0.03417	0.482000	0.46254	CAG		0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			C	143093267	T	C	143093267	3	2	193	1	0	0	0	0	1	0	0	0	7187	1580	55	4	4755	4	HIVEP2	6	143093267	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	13429710	143093267	28021800	31	13617											
ARID1B	57492	broad.mit.edu	37	chr6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgccctacagcatggCgcccgccatggtgaacagct	7	5	13	16	4	0	1	0	1	0	0	0	1	0	1	4	3	4	2	4	3	2	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:157488293C>T	ENST00000350026.5	+	9	2961	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_ENST00000367148.1_Missense_Mutation_p.A987V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A929V|ARID1B_ENST00000346085.5_Missense_Mutation_p.A1000V|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	987					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597																																						uc003qqp.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2959-2961)gCg>gTg		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.							77	86	83					6																	157488293		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157488293C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2960C>T	6.37:g.157488293C>T	ENSP00000055163:p.Ala987Val					ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2960	+		Breast(66;0.000162)|Ovarian(120;0.0265)	987					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2960C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739655	0.49045	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25912	4.75;4.76;4.78;4.78;4.48;2.23;1.77	5.75	5.75	0.90469	.	0.631888	0.17574	N	0.169349	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B;P;B;B	0.35226	0.165;0.491;0.052;0.052	B;B;B;B	0.25405	0.038;0.06;0.023;0.023	T	0.17561	-1.0365	10	0.42905	T	0.14	.	18.1404	0.89637	0.0:1.0:0.0:0.0	.	237;987;1000;929	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	V	1000;987;987;929;404;456;409;54	ENSP00000344546:A1000V;ENSP00000055163:A987V;ENSP00000356116:A987V;ENSP00000275248:A929V;ENSP00000412835:A456V;ENSP00000313006:A409V;ENSP00000383596:A54V	ENSP00000275248:A929V	A	+	2	0	ARID1B	157529985	0.770000	0.28543	0.208000	0.23602	0.880000	0.50808	4.537000	0.60643	2.716000	0.92895	0.655000	0.94253	GCG		0.597	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		T	157488293	C	T	157488293	3	4	193	1	0	0	0	0	1	0	0	0	914	768	27	1	3037	1	ARID1B	6	157488293	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	14395026	157488293	13626774	32	13618											
ITGB8	3696	broad.mit.edu	37	chr7	20420296	20420296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccacacagtgactacAatttagactgcatgcctccc	10	12	5	14	0	0	2	0	1	0	1	2	2	2	2	3	0	3	1	3	0	3	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:20420296A>G	ENST00000222573.4	+	5	1327	c.643A>G	c.(643-645)Aat>Gat	p.N215D	ITGB8_ENST00000537992.1_Missense_Mutation_p.N80D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	215	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTGACTACAATTTAGACTG	0.388																																						uc003suu.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(643-645)Aat>Gat		Homo sapiens integrin, beta 8 (ITGB8), mRNA.							97	94	95					7																	20420296		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20420296A>G		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.643A>G	7.37:g.20420296A>G	ENSP00000222573:p.Asn215Asp					ITGB8_uc011jyh.2_Missense_Mutation_p.N80D|ITGB8_uc003sut.3_Missense_Mutation_p.N215D	p.N215D	NM_002214	NP_002205	P26012	ITB8_HUMAN			4	1348	+			215			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.643A>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915164	0.33815	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	6.07	4.94	0.65067	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.065142	0.64402	D	0.000006	D	0.91935	0.7446	N	0.16602	0.42	0.37713	D	0.924646	B;B	0.15719	0.014;0.007	B;B	0.17433	0.018;0.011	D	0.86991	0.2110	10	0.07482	T	0.82	-27.0934	7.7918	0.29125	0.7988:0.0:0.2012:0.0	.	215;215	P26012;Q9BUG9	ITB8_HUMAN;.	D	80;215	ENSP00000441561:N80D;ENSP00000222573:N215D	ENSP00000222573:N215D	N	+	1	0	ITGB8	20386821	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.556000	0.60775	2.326000	0.78906	0.533000	0.62120	AAT		0.388	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		G	20420296	A	G	20420296	3	3	193	1	0	0	0	0	1	0	0	0	7901	130	5	4	661	4	ITGB8	7	20420296	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08		20420296	138718367	33	13619											
MTERF	7978	broad.mit.edu	37	chr7	91503603	91503603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaggttgttattggaccGaaaaaaggattcaggagaac	14	11	12	4	1	1	1	1	0	0	1	1	5	1	3	1	4	1	3	1	4	6	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:91503603G>A	ENST00000351870.3	-	3	598	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Missense_Mutation_p.R149W|MTERF_ENST00000406735.2_Missense_Mutation_p.R149W	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		169	Interaction with DNA.				DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTATTGGACCGAAAAAAGGAT	0.398																																						uc003ulc.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14						c.(505-507)Cgg>Tgg		Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.							81	83	82					7																	91503603		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503603G>A																												ENST00000351870.3:c.505C>T	7.37:g.91503603G>A	ENSP00000248643:p.Arg169Trp					MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	p.R169W	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	581	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		169			Interaction with DNA.		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.505C>T	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555609	0.86231	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.12984	2.63;2.63;2.63	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.68952	2.095	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.07065	-1.0792	10	0.51188	T	0.08	-0.3393	17.1025	0.86653	0.0:0.0:1.0:0.0	.	169	Q99551	MTERF_HUMAN	W	149;169;149	ENSP00000414116:R149W;ENSP00000248643:R169W;ENSP00000384986:R149W	ENSP00000248643:R169W	R	-	1	2	MTERF	91341539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.587000	0.74071	2.503000	0.84419	0.591000	0.81541	CGG		0.398	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			A	91503603	G	A	91503603	3	1	193	1	0	0	0	0	1	0	0	0	9918	1057	37	2	698	2	MTERF	7	91503603	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	71083307	91503603	67635060	34	13620											
ORC5L	5001	broad.mit.edu	37	chr7	103835638	103835638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacggctcaaagcatccaGtatttggacgaaacttttcc	13	10	7	11	2	1	0	1	0	0	0	3	2	3	1	2	2	3	3	2	2	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:103835638G>T	ENST00000297431.4	-	5	648	c.506C>A	c.(505-507)aCt>aAt	p.T169N	ORC5_ENST00000447452.2_Missense_Mutation_p.T169N|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_Missense_Mutation_p.T37N	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	169					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAGCATCCAGTATTTGGACG	0.343																																						uc003vcb.3																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(505-507)aCt>aAt		Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.							108	106	107					7																	103835638		2203	4300	6503	SO:0001583	missense	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103835638G>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.506C>A	7.37:g.103835638G>T	ENSP00000297431:p.Thr169Asn					ORC5_uc011klp.2_Missense_Mutation_p.T37N|ORC5_uc003vcc.3_Missense_Mutation_p.T169N	p.T169N	NM_002553	NP_002544	O43913	ORC5_HUMAN			4	649	-			169					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.506C>A	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904456	0.52333	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.62788	0.0;0.81;0.0	5.72	4.82	0.62117	.	0.044680	0.85682	N	0.000000	T	0.65365	0.2684	L	0.60455	1.87	0.80722	D	1	B;P;B	0.51653	0.006;0.947;0.105	B;P;B	0.50270	0.007;0.636;0.042	T	0.66913	-0.5803	10	0.51188	T	0.08	.	11.0468	0.47863	0.0682:0.0:0.8025:0.1293	.	169;169;169	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	N	169;37;169	ENSP00000297431:T169N;ENSP00000438018:T37N;ENSP00000395747:T169N	ENSP00000297431:T169N	T	-	2	0	ORC5	103622874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.184000	0.65070	1.378000	0.46305	0.655000	0.94253	ACT		0.343	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		T	103835638	G	T	103835638	3	4	193	1	0	0	0	0	1	0	0	0	11265	1029	36	5	939	5	ORC5L	7	103835638	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	12332035	103835638	55303025	35	13621											
STAR	6770	broad.mit.edu	37	chr8	38005844	38005844	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtctcttctagccgagaAcctggatacacagccgagga	12	7	11	11	2	2	2	0	0	2	2	3	6	2	4	3	2	4	0	3	2	3	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:38005844A>G	ENST00000276449.4	-	3	626	c.180T>C	c.(178-180)ggT>ggC	p.G60G	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	60					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CTAGCCGAGAACCTGGATACA	0.577																																						uc003xkv.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.e3-1		Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.							47	42	44					8																	38005844		2203	4300	6503	SO:0001630	splice_region_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005844A>G	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.179-1T>C	8.37:g.38005844A>G							p.G60_splice	NM_000349	NP_000340	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	443	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	60					Q16396	Silent	SNP	ENST00000276449.4	37	c.179_splice	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540798	0.27563	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.52	-2.5	0.06384	.	.	.	.	.	T	0.52289	0.1725	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48490	-0.9031	4	.	.	.	.	8.4629	0.32938	0.5001:0.1084:0.3914:0.0	.	.	.	.	A	39	.	.	V	-	2	0	STAR	38125001	0.873000	0.30073	0.915000	0.36163	0.756000	0.42949	0.045000	0.14013	-0.326000	0.08564	-0.466000	0.05196	GTT		0.577	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	Silent	G	38005844	A	G	38005844	5	3	193	1	0	0	0	0	0	0	1	0	15253	57	2	4	697	4	STAR	8	38005844	Splice_Site	SNP	A	TCGA-27-2521-01A-01D-1494-08		38005844	108358178	36	13622											
GDF6	392255	broad.mit.edu	37	chr8	97157751	97157751	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagtgtgcgagagatcGtctgcgagataaaaaataat	16	8	13	4	3	1	3	0	0	1	3	2	7	1	4	0	1	2	0	0	1	4	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:97157751G>C	ENST00000287020.5	-	2	507	c.408C>G	c.(406-408)gaC>gaG	p.D136E		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	136					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGAGAGATCGTCTGCGAGAT	0.557																																						uc003yhp.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.e2-1		Homo sapiens growth differentiation factor 6 (GDF6), mRNA.							21	28	25					8																	97157751		1646	3189	4835	SO:0001630	splice_region_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157751G>C		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.407-1C>G	8.37:g.97157751G>C							p.D136_splice	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	507	-	Breast(36;2.67e-05)		136					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.407_splice	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951611	0.73787	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.64260	-0.09	5.27	5.27	0.74061	Transforming growth factor-beta, N-terminal (1);	0.072505	0.53938	U	0.000056	T	0.68550	0.3013	M	0.74467	2.265	0.52501	D	0.999953	D	0.58970	0.984	P	0.54629	0.757	T	0.66236	-0.5974	10	0.09084	T	0.74	.	11.9572	0.52988	0.0806:0.0:0.9194:0.0	.	136	Q6KF10	GDF6_HUMAN	E	136	ENSP00000287020:D136E	ENSP00000287020:D136E	D	-	3	2	GDF6	97226927	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.941000	0.49011	2.432000	0.82394	0.557000	0.71058	GAC		0.557	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557	Missense_Mutation	C	97157751	G	C	97157751	5	2	193	1	0	0	0	0	0	0	1	0	6317	1159	40	5	963	5	GDF6	8	97157751	Splice_Site	SNP	G	TCGA-27-2521-01A-01D-1494-08	59151907	97157751	49206271	37	13623											
IFNW1	3467	broad.mit.edu	37	chr9	21141019	21141019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctatctttacttctcagtCtttcttgcatgtttgttgat	5	22	5	9	0	5	1	1	1	5	0	6	1	5	1	0	0	2	3	0	0	2	8	rs576257737	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141019C>G	ENST00000380229.2	-	1	1125	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACTTCTCAGTCTTTCTTGCAT	0.383																																						uc003zol.1																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(550-552)aGa>aCa		Homo sapiens interferon, omega 1 (IFNW1), mRNA.							123	111	115					9																	21141019		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141019C>G		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.551G>C	9.37:g.21141019C>G	ENSP00000369578:p.Arg184Thr						p.R184T	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	0	1126	-			184					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.551G>C	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429648	0.43122	.	.	ENSG00000177047	ENST00000380229	T	0.03982	3.74	4.66	1.6	0.23607	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.803367	0.11429	N	0.564988	T	0.13200	0.0320	M	0.72353	2.195	0.09310	N	1	D	0.54772	0.968	P	0.55749	0.783	T	0.10382	-1.0632	10	0.87932	D	0	.	7.8854	0.29646	0.0:0.6995:0.0:0.3005	.	184	P05000	IFNW1_HUMAN	T	184	ENSP00000369578:R184T	ENSP00000369578:R184T	R	-	2	0	IFNW1	21131019	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.163000	0.09997	0.581000	0.29539	-0.484000	0.04775	AGA		0.383	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		G	21141019	C	G	21141019	3	3	193	1	0	0	0	0	1	0	0	0	7552	913	32	5	40	5	IFNW1	9	21141019	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		21141019	120072412	38	13624											
IFNW1	3467	broad.mit.edu	37	chr9	21141108	21141108	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgctgtatttcttctctttCaggtagacacggattccctg	6	16	8	11	2	3	1	1	0	2	1	6	2	4	2	1	2	0	3	1	2	2	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141108C>G	ENST00000380229.2	-	1	1036	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	154					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473																																						uc003zol.1																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(460-462)ctG>ctC		Homo sapiens interferon, omega 1 (IFNW1), mRNA.							98	93	94					9																	21141108		2203	4300	6503	SO:0001819	synonymous_variant	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141108C>G		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.462G>C	9.37:g.21141108C>G							p.L154L	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	0	1037	-			154					Q13168|Q5U802|Q5VWD0|Q7M4P5	Silent	SNP	ENST00000380229.2	37	c.462G>C	CCDS6496.1																																																																																				0.473	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		G	21141108	C	G	21141108	2	3	193	1	0	0	0	0	0	0	0	1	7552	813	29	5		5	IFNW1	9	21141108	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	89	21141108	120072323	39	13625											
TMEM2	23670	broad.mit.edu	37	chr9	74324239	74324239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttacacagcttggatggCggatcaggtagttgtccatt	9	13	11	8	1	1	0	1	0	0	0	2	2	2	2	1	4	2	3	1	4	2	6	rs147272925	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:74324239C>T	ENST00000377044.4	-	17	3460	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	TMEM2_ENST00000377066.5_Missense_Mutation_p.R911H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	974					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTTGGATGGCGGATCAGGTA	0.448													C|||	4	0.000798722	0.003	0	5008	,	,		21899	0		0	False		,,,				2504	0					uc011lsa.1																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2920-2922)cGc>cAc		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	22,4384	29.9+/-59.1	0,22,2181	253	213	227		2732,2921	5.7	1	9	dbSNP_134	227	0,8600		0,0,4300	yes	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	29,29	0,22,6481	TT,TC,CC		0.0,0.4993,0.1692	benign,benign	911/1321,974/1384	74324239	22,12984	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74324239C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2921G>A	9.37:g.74324239C>T	ENSP00000366243:p.Arg974His					TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_Non-coding_Transcript	p.R974H	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	16	3461	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	974					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2921G>A	CCDS6638.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	23.7	4.442794	0.83993	0.004993	0.0	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377055;ENST00000377043	T;T;T;T	0.74842	-0.88;-0.81;1.06;0.82	5.67	5.67	0.87782	.	0.108034	0.64402	D	0.000006	D	0.85673	0.5751	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70487	0.932;0.969	D	0.87120	0.2190	10	0.87932	D	0	.	13.4634	0.61239	0.0:0.919:0.0:0.081	.	974;911	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	974;911;3;75	ENSP00000366243:R974H;ENSP00000366266:R911H;ENSP00000366254:R3H;ENSP00000366242:R75H	ENSP00000366242:R75H	R	-	2	0	TMEM2	73514059	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.393000	0.44442	2.683000	0.91414	0.557000	0.71058	CGC		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74324239	C	T	74324239	3	4	193	1	0	0	0	0	1	0	0	0	16118	768	27	1	1262	1	TMEM2	9	74324239	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	53183131	74324239	66889192	40	13626											
ZNF618	114991	broad.mit.edu	37	chr9	116811982	116811982	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttcaaggtgcacccGgcccacaaggtggccatgat	11	6	12	12	1	1	2	1	1	0	1	1	3	1	2	3	4	2	1	3	4	3	1	rs200450990		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:116811982G>T	ENST00000374126.5	+	15	2499	c.2400G>T	c.(2398-2400)ccG>ccT	p.P800P	ZNF618_ENST00000288466.7_Silent_p.P707P|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGCACCCGGCCCACAAGG	0.612																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2398-2400)ccG>ccT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							45	51	49					9																	116811982		2085	4211	6296	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811982G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2400G>T	9.37:g.116811982G>T						ZNF618_uc004bic.3_Silent_p.P707P|ZNF618_uc011lxi.2_Silent_p.P767P|ZNF618_uc011lxj.2_Silent_p.P768P|ZNF618_uc010mvb.3_Silent_p.P390P	p.P800P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			14	2499	+			800					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.2400G>T																																																																																					0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116811982	G	T	116811982	2	4	193	1	0	0	0	0	0	0	0	1	18039	1103	39	5		5	ZNF618	9	116811982	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	42487743	116811982	24401449	41	13627											
DEC1	50514	broad.mit.edu	37	chr9	118162691	118162691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcacctggtgagggccttCttgccgtgttacacatgatg	7	11	12	11	1	1	2	0	2	1	0	1	2	1	2	3	2	3	2	3	2	1	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:118162691C>G	ENST00000374016.1	+	6	586	c.67C>G	c.(67-69)Ctt>Gtt	p.L23V		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	23					negative regulation of cell proliferation (GO:0008285)					kidney(1)|large_intestine(1)|ovary(1)	3						tgagggccttcttgccgtgtt	0.453																																						uc004bjk.1																			0				kidney(1)|large_intestine(1)|ovary(1)	3						c.(67-69)Ctt>Gtt		Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.							151	137	142					9																	118162691		2203	4300	6503	SO:0001583	missense	50514				negative regulation of cell proliferation			g.chr9:118162691C>G	AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.67C>G	9.37:g.118162691C>G	ENSP00000363128:p.Leu23Val					DEC1_uc004bjl.1_Intron	p.L23V	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN			5	586	+			23						Missense_Mutation	SNP	ENST00000374016.1	37	c.67C>G	CCDS6812.1	.	.	.	.	.	.	.	.	.	.	C	6.295	0.422622	0.11928	.	.	ENSG00000173077	ENST00000374016	T	0.58358	0.34	1.33	1.33	0.21861	.	.	.	.	.	T	0.53449	0.1797	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.52217	0.693	T	0.43442	-0.9391	8	0.87932	D	0	.	6.0617	0.19842	0.0:1.0:0.0:0.0	.	23	Q9P2X7	DEC1_HUMAN	V	23	ENSP00000363128:L23V	ENSP00000363128:L23V	L	+	1	0	DEC1	117202512	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.776000	0.26704	1.045000	0.40225	0.655000	0.94253	CTT		0.453	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053791.1	NM_017418		G	118162691	C	G	118162691	3	3	193	1	0	0	0	0	1	0	0	0	4381	913	32	5	73	5	DEC1	9	118162691	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	1350709	118162691	23050740	42	13628											
ASTN2	23245	broad.mit.edu	37	chr9	119204775	119204775	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtggacaggccgtcctcagGgtcaccgtgcttagctctga	7	9	13	12	2	3	1	2	1	1	0	4	2	4	2	3	3	2	2	3	3	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:119204775G>T	ENST00000313400.4	-	21	3655	c.3555C>A	c.(3553-3555)acC>acA	p.T1185T	ASTN2_ENST00000361477.3_Silent_p.T237T|ASTN2_ENST00000341734.4_Silent_p.T237T|ASTN2_ENST00000373996.3_Silent_p.T1181T|ASTN2_ENST00000288520.5_Silent_p.T286T|ASTN2_ENST00000361209.2_Silent_p.T1134T			O75129	ASTN2_HUMAN	astrotactin 2	1185	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGTCCTCAGGGTCACCGTGC	0.512																																						uc004bjt.2																			0		p.T1134I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3400-3402)acC>acA		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							207	172	184					9																	119204775		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119204775G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3555C>A	9.37:g.119204775G>T						ASTN2_uc022bml.1_Silent_p.T830T|ASTN2_uc022bmm.1_Silent_p.T834T|ASTN2_uc004bjp.2_Silent_p.T286T|ASTN2_uc011lxr.2_Silent_p.T237T|ASTN2_uc011lxs.2_Silent_p.T237T|ASTN2_uc011lxt.2_Silent_p.T237T|ASTN2_uc004bjq.2_Silent_p.T237T	p.T1134T	NM_014010	NP_054729	O75129	ASTN2_HUMAN			19	3503	-			1185			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.3402C>A																																																																																					0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119204775	G	T	119204775	2	4	193	1	0	0	0	0	0	0	0	1	1065	1219	43	5		5	ASTN2	9	119204775	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	1042084	119204775	22008656	43	13629											
GLT6D1	360203	broad.mit.edu	37	chr9	138517954	138517954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccacagtgatattcCgccttctgtaatgtttttcc	7	14	7	13	1	1	1	0	1	1	0	3	1	3	1	5	1	0	2	5	1	2	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:138517954C>T	ENST00000371763.1	-	4	471	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	73					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGATATTCCGCCTTCTGTA	0.498																																						uc010nbd.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(217-219)cGg>cAg		Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.							80	84	83					9																	138517954		1901	4104	6005	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138517954C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.218G>A	9.37:g.138517954C>T	ENSP00000360829:p.Arg73Gln						p.R73Q	NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	3	472	-		Myeloproliferative disorder(178;0.0821)	73						Missense_Mutation	SNP	ENST00000371763.1	37	c.218G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.086470	0.00367	.	.	ENSG00000204007	ENST00000371763	T	0.01165	5.24	4.18	-8.36	0.00980	.	1.408090	0.04486	N	0.378608	T	0.00552	0.0018	N	0.02213	-0.635	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.43294	-0.9400	10	0.02654	T	1	-9.1253	9.0338	0.36275	0.3759:0.0885:0.0:0.5357	.	73	Q7Z4J2	GL6D1_HUMAN	Q	73	ENSP00000360829:R73Q	ENSP00000360829:R73Q	R	-	2	0	GLT6D1	137657775	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.682000	0.01935	-6.889000	0.00002	-2.085000	0.00377	CGG		0.498	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		T	138517954	C	T	138517954	3	4	193	1	0	0	0	0	1	0	0	0	6468	652	23	2	620	2	GLT6D1	9	138517954	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	19313179	138517954	2695477	44	13630											
C10orf18	54906	broad.mit.edu	37	chr10	5804609	5804609	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatttaggagtagctattGgtaagaacactttttatgta	12	16	8	5	0	0	1	0	0	0	1	1	2	1	2	1	2	2	4	1	2	7	10			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:5804609G>A	ENST00000328090.5	+	20	7914	c.7289G>A	c.(7288-7290)tGg>tAg	p.W2430*	GDI2_ENST00000479928.1_5'Flank	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2430																	AGTAGCTATTGGTAAGAACAC	0.343																																						uc001iij.3																			0											c.e20+1		Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.							64	63	64					10																	5804609		1840	4076	5916	SO:0001630	splice_region_variant	54906							g.chr10:5804609G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7289+1G>A	10.37:g.5804609G>A						FAM208B_uc001iik.3_Splice_Site_p.W1274_splice	p.W2430_splice	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			20	7914	+			2430					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	c.7289_splice	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	51	18.454878	0.99905	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5971	0.56476	0.0763:0.0:0.9237:0.0	.	.	.	.	X	2430;1625	.	ENSP00000328426:W2430X	W	+	2	0	C10orf18	5844615	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.644000	0.74338	2.861000	0.98227	0.650000	0.86243	TGG		0.343	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	Nonsense_Mutation	A	5804609	G	A	5804609	5	1	193	1	0	0	0	0	0	0	1	0	1596	1362	47	3	7355	3	C10orf18	10	5804609	Splice_Site	SNP	G	TCGA-27-2521-01A-01D-1494-08		5804609	129730138	45	13631											
MYO3A	53904	broad.mit.edu	37	chr10	26414537	26414537	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgactcatcaccaaGgtaaaaatttttacagaaac	18	9	6	8	0	2	2	2	1	0	1	2	3	2	2	1	1	3	2	1	1	7	4	rs141374777		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:26414537G>T	ENST00000265944.5	+	19	2280	c.2114G>T	c.(2113-2115)aGt>aTt	p.S705I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	705	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCATCACCAAGGTAAAAATTT	0.338																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.e19+1		Homo sapiens myosin IIIA (MYO3A), mRNA.							60	64	63					10																	26414537		2203	4300	6503	SO:0001630	splice_region_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414537G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2114+1G>T	10.37:g.26414537G>T						MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron	p.S705_splice	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2474	+			705			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2114_splice	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343049	0.41498	.	.	ENSG00000095777	ENST00000265944	T	0.78707	-1.2	5.77	5.77	0.91146	Myosin head, motor domain (2);	0.126842	0.64402	D	0.000001	D	0.82802	0.5116	M	0.68952	2.095	0.80722	D	1	P	0.45531	0.86	P	0.53313	0.723	T	0.81495	-0.0907	10	0.38643	T	0.18	.	14.1745	0.65532	0.0716:0.0:0.9284:0.0	.	705	Q8NEV4	MYO3A_HUMAN	I	705	ENSP00000265944:S705I	ENSP00000265944:S705I	S	+	2	0	MYO3A	26454543	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	6.895000	0.75660	2.712000	0.92718	0.585000	0.79938	AGT		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	Missense_Mutation	T	26414537	G	T	26414537	5	4	193	1	0	0	0	0	0	0	1	0	10076	1014	35	5	2180	5	MYO3A	10	26414537	Splice_Site	SNP	G	TCGA-27-2521-01A-01D-1494-08	20609928	26414537	109120210	46	13632											
MPP7	143098	broad.mit.edu	37	chr10	28378639	28378639	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttttcattagtttgtcGccgatacggtgtcacttctt	6	19	8	8	3	3	0	2	0	1	0	4	1	3	0	1	1	1	2	1	1	3	8			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:28378639G>A	ENST00000375732.1	-	12	1343	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	MPP7_ENST00000337532.5_Nonsense_Mutation_p.R362*|MPP7_ENST00000445954.2_Nonsense_Mutation_p.R237*|MPP7_ENST00000375719.3_Nonsense_Mutation_p.R362*|MPP7_ENST00000540098.1_Nonsense_Mutation_p.R362*			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	362					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTAGTTTGTCGCCGATACGGT	0.383																																						uc001iua.1																			0		p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1084-1086)Cga>Tga		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.							349	287	308					10																	28378639		2203	4300	6503	SO:0001587	stop_gained	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28378639G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1084C>T	10.37:g.28378639G>A	ENSP00000364884:p.Arg362*					MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.R362*|MPP7_uc009xla.2_Nonsense_Mutation_p.R362*|MPP7_uc010qdv.1_Non-coding_Transcript	p.R362*	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			13	1488	-			362					B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Nonsense_Mutation	SNP	ENST00000375732.1	37	c.1084C>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309416	0.81247	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	.	.	.	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0824	0.81014	0.0:0.0:0.8653:0.1347	.	.	.	.	X	362;362;362;362;123;237	.	ENSP00000337907:R362X	R	-	1	2	MPP7	28418645	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.685000	0.61693	1.343000	0.45638	0.655000	0.94253	CGA		0.383	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		A	28378639	G	A	28378639	4	1	193	1	0	0	0	0	0	1	0	0	9739	1095	38	1	670	1	MPP7	10	28378639	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	1964102	28378639	107156108	47	13633											
RUFY2	55680	broad.mit.edu	37	chr10	70139220	70139220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgcagtaattttattgGttttttcttctagtcgggca	6	19	10	6	1	2	0	0	0	2	0	3	0	2	0	0	3	1	5	0	3	3	9			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:70139220G>T	ENST00000602465.1	-	12	1266	c.1166C>A	c.(1165-1167)aCc>aAc	p.T389N	RUFY2_ENST00000454950.2_Missense_Mutation_p.T331N|RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000388768.2_Missense_Mutation_p.T424N|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355N			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338																																						uc001job.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1270-1272)aCc>aAc		Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.							117	118	118					10																	70139220		1826	4078	5904	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70139220G>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1166C>A	10.37:g.70139220G>T	ENSP00000473462:p.Thr389Asn					RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_5'Flank|RUFY2_uc001joc.3_Missense_Mutation_p.T355N|RUFY2_uc010qiw.2_Missense_Mutation_p.T331N|RUFY2_uc001jod.1_Missense_Mutation_p.T389N	p.T424N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			11	1598	-			438					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1271C>A		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545016	0.45280	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.54479	0.57;1.86;1.44	4.84	2.9	0.33743	.	0.106288	0.64402	N	0.000005	T	0.53029	0.1771	L	0.49455	1.56	0.53005	D	0.999965	P;P;B;B	0.50819	0.608;0.939;0.0;0.001	B;P;B;B	0.50934	0.115;0.654;0.001;0.007	T	0.46289	-0.9202	10	0.16896	T	0.51	.	13.7045	0.62629	0.0:0.0:0.7038:0.2962	.	331;389;355;424	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	N	424;355;331	ENSP00000373420:T424N;ENSP00000382151:T355N;ENSP00000404986:T331N	ENSP00000373420:T424N	T	-	2	0	RUFY2	69809226	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.722000	0.61958	0.681000	0.31386	0.491000	0.48974	ACC		0.338	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		T	70139220	G	T	70139220	3	4	193	1	0	0	0	0	1	0	0	0	13739	1261	44	5	795	5	RUFY2	10	70139220	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	41760581	70139220	65395527	48	13634											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058831	81058831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatgacgagctgcggcTcacattccctgtgcgggatg	8	8	12	13	3	1	1	1	1	0	0	2	3	2	2	2	2	3	2	2	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:81058831T>G	ENST00000334512.5	+	16	2263	c.1691T>G	c.(1690-1692)cTc>cGc	p.L564R		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	564					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGCTGCGGCTCACATTCCCT	0.647																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1690-1692)cTc>cGc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							78	57	64					10																	81058831		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058831T>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1691T>G	10.37:g.81058831T>G	ENSP00000334474:p.Leu564Arg					ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	p.L564R	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2263	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		564					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1691T>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	T	32	5.133192	0.94517	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.55930	0.49	5.6	5.6	0.85130	.	0.000000	0.36854	N	0.002364	T	0.75627	0.3875	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79529	-0.1766	10	0.59425	D	0.04	-26.2256	15.7893	0.78343	0.0:0.0:0.0:1.0	.	564	Q9ULJ6	ZMIZ1_HUMAN	R	564;494;470	ENSP00000334474:L564R	ENSP00000334474:L564R	L	+	2	0	ZMIZ1	80728837	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.693000	0.84214	2.130000	0.65690	0.477000	0.44152	CTC		0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		G	81058831	T	G	81058831	3	3	193	1	0	0	0	0	1	0	0	0	17693	1551	54	5	1737	5	ZMIZ1	10	81058831	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	10919611	81058831	54475916	49	13635											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45923593	45923593	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcgggtgtctcgatcAtcctcacccctgaagacagg	9	8	11	13	2	3	2	2	1	1	1	6	4	4	3	3	3	0	0	3	3	1	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:45923593A>T	ENST00000241014.2	+	4	755	c.585A>T	c.(583-585)tcA>tcT	p.S195S	MAPK8IP1_ENST00000395629.2_Silent_p.S185S	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	195	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGTCTCGATCATCCTCACCCC	0.527																																						uc001nbr.3																			0		p.R194R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(583-585)tcA>tcT		Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.							190	184	186					11																	45923593		2203	4299	6502	SO:0001819	synonymous_variant	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45923593A>T		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.585A>T	11.37:g.45923593A>T							p.S195S	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	3	910	+			195			JNK-binding domain (JBD).		D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	c.585A>T	CCDS7916.1																																																																																				0.527	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		T	45923593	A	T	45923593	2	4	193	1	0	0	0	0	0	0	0	1	9284	204	8	5		5	MAPK8IP1	11	45923593	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		45923593	89082923	50	13636											
DLAT	1737	broad.mit.edu	37	chr11	111899615	111899615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgctgccactgcttcGccacctacaccttctgctca	6	10	5	20	1	2	0	1	0	1	0	3	0	2	0	6	0	5	3	6	0	1	3	rs148153443	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:111899615G>A	ENST00000280346.6	+	4	1265	c.606G>A	c.(604-606)tcG>tcA	p.S202S	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Silent_p.S202S	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCACTGCTTCGCCACCTACAC	0.532																																						uc001pmo.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(604-606)tcG>tcA		Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)	G		1,4401	2.1+/-5.4	0,1,2200	88	86	87		606	-10.8	0	11	dbSNP_134	87	0,8594		0,0,4297	no	coding-synonymous	DLAT	NM_001931.4		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		202/648	111899615	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111899615G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.606G>A	11.37:g.111899615G>A						DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Silent_p.S146S	p.S202S	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	3	1265	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	202					Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	c.606G>A	CCDS8354.1																																																																																				0.532	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		A	111899615	G	A	111899615	2	1	193	1	0	0	0	0	0	0	0	1	4549	1074	38	1		1	DLAT	11	111899615	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	65976022	111899615	23106901	51	13637											
HTR3A	3359	broad.mit.edu	37	chr11	113857602	113857602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtttggccgagaccatCttcattgtgcggctggtgca	8	12	12	9	2	2	1	1	0	1	1	2	2	2	1	2	3	2	3	2	3	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857602C>A	ENST00000504030.2	+	8	1417	c.972C>A	c.(970-972)atC>atA	p.I324I	HTR3A_ENST00000375498.2_Silent_p.I330I|HTR3A_ENST00000299961.5_Silent_p.I309I|HTR3A_ENST00000506841.2_Silent_p.I356I|HTR3A_ENST00000355556.2_Silent_p.I362I|HTR3A_ENST00000535865.1_Silent_p.I68I			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	324					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCGAGACCATCTTCATTGTGC	0.582																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1084-1086)atC>atA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						89	76	80					11																	113857602		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857602C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.972C>A	11.37:g.113857602C>A						HTR3A_uc010rxa.2_Silent_p.I330I|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.I309I	p.I362I	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1319	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	324					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1086C>A																																																																																					0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113857602	C	A	113857602	2	1	193	1	0	0	0	0	0	0	0	1	7444	903	32	5		5	HTR3A	11	113857602	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	1957987	113857602	21148914	52	13638			1	37		2	2	13	N	G_C	3.294867e-05
HTR3A	3359	broad.mit.edu	37	chr11	113857614	113857614	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaccatcttcattgtgcgGctggtgcacaagcaagacct	10	9	11	11	1	2	2	1	0	1	2	2	3	2	2	2	2	3	3	2	2	2	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857614G>C	ENST00000504030.2	+	8	1429	c.984G>C	c.(982-984)cgG>cgC	p.R328R	HTR3A_ENST00000375498.2_Silent_p.R334R|HTR3A_ENST00000299961.5_Silent_p.R313R|HTR3A_ENST00000506841.2_Silent_p.R360R|HTR3A_ENST00000355556.2_Silent_p.R366R|HTR3A_ENST00000535865.1_Silent_p.R72R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	328					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCATTGTGCGGCTGGTGCACA	0.572																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1096-1098)cgG>cgC		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						78	67	71					11																	113857614		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857614G>C	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.984G>C	11.37:g.113857614G>C						HTR3A_uc010rxa.2_Silent_p.R334R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R313R	p.R366R	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1331	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	328					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1098G>C																																																																																					0.572	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		C	113857614	G	C	113857614	2	2	193	1	0	0	0	0	0	0	0	1	7444	1190	42	5		5	HTR3A	11	113857614	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	12	113857614	21148902	53	13639			1	37		2	2	13	N	G_C	3.294867e-05
APOA5	116519	broad.mit.edu	37	chr11	116661604	116661604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccaccagctcgtgcGcctctgccatgtagggctgg	5	8	12	16	2	1	0	0	0	1	0	3	0	2	0	5	2	4	3	5	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:116661604G>A	ENST00000227665.4	-	3	375	c.341C>T	c.(340-342)gCg>gTg	p.A114V	APOA5_ENST00000542499.1_Missense_Mutation_p.A114V|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	114					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGCTCGTGCGCCTCTGCCAT	0.662																																						uc009yzg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(418-420)gCg>gTg		Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.							59	58	58					11																	116661604		2201	4296	6497	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661604G>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.341C>T	11.37:g.116661604G>A	ENSP00000227665:p.Ala114Val					ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.A114V|APOA5_uc009yzf.3_Missense_Mutation_p.A114V	p.A140V			Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	1	851	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	114					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.419C>T	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	4.420	0.077664	0.08485	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.71579	-0.58;-0.58;-0.58	4.98	-2.12	0.07165	Apolipoprotein/apolipophorin (1);	0.678240	0.13277	N	0.400031	T	0.31167	0.0788	N	0.01505	-0.83	0.19300	N	0.999978	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.31081	-0.9956	10	0.07030	T	0.85	-2.6245	4.2955	0.10899	0.4237:0.0:0.3754:0.2009	.	111;114	B0YIW1;Q6Q788	.;APOA5_HUMAN	V	114	ENSP00000227665:A114V;ENSP00000445002:A114V;ENSP00000399701:A114V	ENSP00000227665:A114V	A	-	2	0	APOA5	116166814	0.000000	0.05858	0.036000	0.18154	0.981000	0.71138	-0.533000	0.06157	-0.576000	0.05974	0.650000	0.86243	GCG		0.662	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			A	116661604	G	A	116661604	3	1	193	1	0	0	0	0	1	0	0	0	784	1087	38	1	763	1	APOA5	11	116661604	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	2803990	116661604	18344912	54	13640											
GRIP1	23426	broad.mit.edu	37	chr12	66786170	66786170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaccgtggaggggtaCatgtcggagagcttgcctgg	6	8	18	9	2	0	1	0	0	0	1	1	3	0	2	2	6	3	3	2	6	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:66786170C>T	ENST00000398016.3	-	18	2294	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.M794I|GRIP1_ENST00000286445.7_Missense_Mutation_p.M794I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGAGGGGTACATGTCGGAGA	0.537																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2224-2226)atG>atA		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							146	147	147					12																	66786170		2035	4186	6221	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786170C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2226G>A	12.37:g.66786170C>T	ENSP00000381098:p.Met742Ile					GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.3_Missense_Mutation_p.M524I|GRIP1_uc001stm.3_Missense_Mutation_p.M742I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I	p.M742I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2467	-			794			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2226G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.284|2.284	-0.364016|-0.364016	0.05103|0.05103	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.71341	.|-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.83|4.83	0.694|0.694	0.18062|0.18062	.|.	.|0.636130	.|0.18248	.|N	.|0.147022	T|T	0.27900|0.27900	0.0687|0.0687	N|N	0.00621|0.00621	-1.32|-1.32	0.19775|0.19775	N|N	0.999955|0.999955	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.22591|0.22591	-1.0212|-1.0212	5|9	.|.	.|.	.|.	-1.0011|-1.0011	1.1414|1.1414	0.01766|0.01766	0.2765:0.3144:0.246:0.1631|0.2765:0.3144:0.246:0.1631	.|.	.|742;794;742;794	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	Y|I	609|742;794;794;742;686;634	.|ENSP00000381098:M742I;ENSP00000352780:M794I;ENSP00000286445:M794I;ENSP00000446047:M742I;ENSP00000446024:M686I;ENSP00000446011:M634I	.|.	C|M	-|-	2|3	0|0	GRIP1|GRIP1	65072437|65072437	0.260000|0.260000	0.24053|0.24053	0.761000|0.761000	0.31378|0.31378	0.150000|0.150000	0.21749|0.21749	-0.029000|-0.029000	0.12329|0.12329	0.345000|0.345000	0.23873|0.23873	0.561000|0.561000	0.74099|0.74099	TGT|ATG		0.537	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66786170	C	T	66786170	3	4	193	1	0	0	0	0	1	0	0	0	6787	478	17	3	1032	3	GRIP1	12	66786170	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		66786170	67065725	55	13641											
GOLGA3	2802	broad.mit.edu	37	chr12	133381337	133381337	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgctcctctgcatgTcctctaccttggccataagc	7	12	8	14	0	2	1	0	1	2	0	4	1	4	1	4	1	5	3	4	1	2	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:133381337T>A	ENST00000450791.2	-	6	1745	c.1562A>T	c.(1561-1563)gAc>gTc	p.D521V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.D521V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.D521V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.D521V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.D521V			Q08378	GOGA3_HUMAN	golgin A3	521					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCTGCATGTCCTCTACCTT	0.607																																						uc001ukz.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1561-1563)gAc>gTc		Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.							143	105	118					12																	133381337		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381337T>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1562A>T	12.37:g.133381337T>A	ENSP00000410378:p.Asp521Val					GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.D521V|GOLGA3_uc001ulb.3_Missense_Mutation_p.D521V	p.D521V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	6	2121	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	521					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1562A>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701134	0.48307	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.52	4.35	0.52113	.	0.140515	0.64402	D	0.000004	T	0.70281	0.3206	N	0.19112	0.55	0.80722	D	1	P;P;P	0.45827	0.867;0.785;0.57	B;B;B	0.42495	0.295;0.295;0.389	T	0.72714	-0.4210	10	0.66056	D	0.02	.	12.8465	0.57833	0.0:0.0:0.136:0.864	.	521;521;521	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	521	ENSP00000204726:D521V;ENSP00000410378:D521V;ENSP00000409303:D521V;ENSP00000442143:D521V;ENSP00000442603:D521V	ENSP00000204726:D521V	D	-	2	0	GOLGA3	131891410	1.000000	0.71417	0.990000	0.47175	0.060000	0.15804	6.202000	0.72131	0.885000	0.36088	0.459000	0.35465	GAC		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133381337	T	A	133381337	3	1	193	1	0	0	0	0	1	0	0	0	6554	1667	58	5	3144	5	GOLGA3	12	133381337	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	66595167	133381337	470558	56	13642											
BRCA2	675	broad.mit.edu	37	chr13	32914389	32914389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtatagggaagcttcAtaagtcagtctcatctgcaa	13	12	9	7	0	4	0	3	0	2	0	5	1	4	1	0	1	2	4	0	1	6	5	rs80358823|rs397507811		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:32914389A>G	ENST00000380152.3	+	11	6130	c.5897A>G	c.(5896-5898)cAt>cGt	p.H1966R	BRCA2_ENST00000544455.1_Missense_Mutation_p.H1966R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1966					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAAGCTTCATAAGTCAGTC	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(5896-5898)cAt>cGt	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							86	94	92					13																	32914389		2202	4299	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914389A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5897A>G	13.37:g.32914389A>G	ENSP00000369497:p.His1966Arg	TCGA Ovarian(8;0.087)					p.H1966R	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	6124	+		Lung SC(185;0.0262)	1966					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5897A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	1.562	-0.536520	0.04082	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00675	5.88;5.88	5.58	2.92	0.33932	.	0.536026	0.18578	N	0.137129	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.50775	-0.8788	10	0.66056	D	0.02	.	2.3968	0.04392	0.1167:0.4995:0.1638:0.22	.	1966	P51587	BRCA2_HUMAN	R	1966	ENSP00000369497:H1966R;ENSP00000439902:H1966R	ENSP00000369497:H1966R	H	+	2	0	BRCA2	31812389	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.661000	0.25023	0.303000	0.22785	-0.132000	0.14878	CAT		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32914389	A	G	32914389	3	3	193	1	0	0	0	0	1	0	0	0	1499	217	8	4	5935	4	BRCA2	13	32914389	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08		32914389	82255489	57	13643											
SLITRK6	84189	broad.mit.edu	37	chr13	86370282	86370282	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaatttctaaagaattgTgattgatatgaagttgtttc	14	17	8	2	0	1	5	0	3	1	2	2	5	1	5	0	0	0	2	0	0	7	8			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:86370282T>G	ENST00000400286.2	-	2	960	c.362A>C	c.(361-363)cAc>cCc	p.H121P		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	121					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAAAGAATTGTGATTGATATG	0.353																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(361-363)cAc>cCc		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							111	103	106					13																	86370282		1829	4079	5908	SO:0001583	missense	84189					integral to membrane		g.chr13:86370282T>G	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.362A>C	13.37:g.86370282T>G	ENSP00000383143:p.His121Pro					SLITRK6_uc021rla.1_Missense_Mutation_p.H121P	p.H121P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	821	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		121					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.362A>C	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592841	0.46214	.	.	ENSG00000184564	ENST00000400286	T	0.53640	0.61	6.17	6.17	0.99709	.	0.097761	0.64402	D	0.000001	T	0.67933	0.2946	M	0.85859	2.78	0.53005	D	0.999966	D	0.67145	0.996	P	0.56788	0.806	T	0.73557	-0.3945	10	0.66056	D	0.02	-14.6203	15.6463	0.77055	0.0:0.0:0.0:1.0	.	121	Q9H5Y7	SLIK6_HUMAN	P	121	ENSP00000383143:H121P	ENSP00000383143:H121P	H	-	2	0	SLITRK6	85268283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.087000	0.71362	2.371000	0.80710	0.533000	0.62120	CAC		0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		G	86370282	T	G	86370282	3	3	193	1	0	0	0	0	1	0	0	0	14747	1696	59	5	2167	5	SLITRK6	13	86370282	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	53455893	86370282	28799596	58	13644											
SALL2	6297	broad.mit.edu	37	chr14	21991030	21991030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaagccctgcctgcaGaaaacacaagtgaagagcgg	16	4	11	10	1	1	4	1	1	0	3	1	4	1	4	2	1	5	1	2	1	6	0	rs376899745		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:21991030G>T	ENST00000327430.3	-	2	3126	c.2832C>A	c.(2830-2832)ttC>ttA	p.F944L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.F807L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	944					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTGCCTGCAGAAAACACAAG	0.597																																						uc001wbe.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2830-2832)ttC>ttA		Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.							50	52	52					14																	21991030		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991030G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2832C>A	14.37:g.21991030G>T	ENSP00000333537:p.Phe944Leu					SALL2_uc010tly.2_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	p.F944L	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	1	3114	-	all_cancers(95;0.000662)		944					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2832C>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.57|10.57	1.386735|1.386735	0.25031|0.25031	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.16457|.	2.34;2.34|.	4.79|4.79	2.96|2.96	0.34315|0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.191937|.	0.25714|.	N|.	0.028792|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.14661|0.14661	0.345|0.345	0.30670|0.30670	N|N	0.753475|0.753475	B;B;B;B|.	0.21688|.	0.059;0.059;0.012;0.012|.	B;B;B;B|.	0.19391|.	0.017;0.025;0.017;0.017|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.20519|.	T|.	0.43|.	-12.9122|-12.9122	6.6931|6.6931	0.23183|0.23183	0.2765:0.0:0.7235:0.0|0.2765:0.0:0.7235:0.0	.|.	807;807;705;944|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	L|Y	944;807|803	ENSP00000333537:F944L;ENSP00000396773:F807L|.	ENSP00000333537:F944L|.	F|S	-|-	3|2	2|0	SALL2|SALL2	21060870|21060870	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	1.013000|1.013000	0.29937|0.29937	0.622000|0.622000	0.30249|0.30249	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21991030	G	T	21991030	3	4	193	1	0	0	0	0	1	0	0	0	13811	933	33	5	195	5	SALL2	14	21991030	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		21991030	85358510	59	13645											
ACIN1	22985	broad.mit.edu	37	chr14	23531439	23531439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggggccatttgacccCgtgcagagctgtgcgggtgg	5	8	18	10	2	0	2	0	1	0	1	0	3	0	3	3	5	3	2	3	5	0	1	rs138390500	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:23531439C>T	ENST00000262710.1	-	16	3538	c.3211G>A	c.(3211-3213)Ggg>Agg	p.G1071R	ACIN1_ENST00000557515.1_Missense_Mutation_p.G312R|ACIN1_ENST00000457657.1_Missense_Mutation_p.G1031R|ACIN1_ENST00000605057.1_Missense_Mutation_p.G1013R|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1058R|ACIN1_ENST00000397341.3_Missense_Mutation_p.G313R|ACIN1_ENST00000338631.6_Missense_Mutation_p.G344R|ACIN1_ENST00000357481.2_Missense_Mutation_p.G313R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1071					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G1071W(1)|p.G344W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CATTTGACCCCGTGCAGAGCT	0.552																																						uc001wit.4																			2	Substitution - Missense(2)	p.G1071W(2)|p.G344W(1)	lung(2)	breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3211-3213)Ggg>Agg		Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	114	114	114		3172,3091,1030,937,3211	5.2	1	14	dbSNP_134	114	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_001164816.1,NM_001164817.1,NM_014977.3	125,125,125,125,125	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1058/1329,1031/1302,344/615,313/584,1071/1342	23531439	2,13004	2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531439C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3211G>A	14.37:g.23531439C>T	ENSP00000262710:p.Gly1071Arg					ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.G313R|ACIN1_uc001wiq.4_Missense_Mutation_p.G313R|ACIN1_uc001wir.4_Missense_Mutation_p.G344R|ACIN1_uc001wis.4_Missense_Mutation_p.G752R|ACIN1_uc010akg.3_Missense_Mutation_p.G1058R|ACIN1_uc010tnj.2_Missense_Mutation_p.G1031R	p.G1071R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	15	3539	-	all_cancers(95;1.36e-05)		1071					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3211G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399910	0.83120	4.54E-4	0.0	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.39687	N	0.001289	T	0.71392	0.3334	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.995;0.989;0.996;0.997	D;D;P;P;P	0.69824	0.942;0.966;0.876;0.779;0.848	T	0.75169	-0.3412	10	0.59425	D	0.04	-18.731	17.8779	0.88830	0.0:1.0:0.0:0.0	.	1058;1071;1031;344;313	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	R	312;344;313;1071;1031;313;1058	ENSP00000451138:G312R;ENSP00000345541:G344R;ENSP00000350073:G313R;ENSP00000262710:G1071R;ENSP00000405677:G1031R;ENSP00000380502:G313R;ENSP00000451328:G1058R	ENSP00000262710:G1071R	G	-	1	0	ACIN1	22601279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.937000	0.56575	2.578000	0.87016	0.563000	0.77884	GGG		0.552	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23531439	C	T	23531439	3	4	193	1	0	0	0	0	1	0	0	0	142	652	23	2	830	2	ACIN1	14	23531439	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	1540409	23531439	83818101	60	13646											
SECISBP2L	9728	broad.mit.edu	37	chr15	49325161	49325161	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtaagaacccttgccttaCcagtttgctgtgaagcatct	10	13	8	10	0	1	2	0	1	1	1	1	2	1	2	3	0	5	4	3	0	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325161C>G	ENST00000559471.1	-	4	928		c.e4+1		SECISBP2L_ENST00000261847.3_Splice_Site	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like								poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTTGCCTTACCAGTTTGCTG	0.393																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.e4+1		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							258	233	241					15																	49325161		2197	4295	6492	SO:0001630	splice_region_variant	9728							g.chr15:49325161C>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.664+1G>C	15.37:g.49325161C>G						SECISBP2L_uc001zxd.2_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.2_Splice_Site|SECISBP2L_uc010beq.2_Intron	p.D222_splice	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN			4	928	-			222					Q8N767	Splice_Site	SNP	ENST00000559471.1	37	c.664_splice	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243832	0.79912	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4188	0.94712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SECISBP2L	47112453	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.658000	0.74407	2.582000	0.87167	0.591000	0.81541	.		0.393	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	Intron	G	49325161	C	G	49325161	5	3	193	1	0	0	0	0	0	0	1	0	14007	521	18	5	2561	5	SECISBP2L	15	49325161	Splice_Site	SNP	C	TCGA-27-2521-01A-01D-1494-08		49325161	53206231	61	13647			2	38		2	2	20	C		5.216823e-05
SECISBP2L	9728	broad.mit.edu	37	chr15	49325180	49325180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagtttgctgtgaagcatCtaccagaagcacaatttttg	12	12	8	9	0	1	2	0	1	1	1	1	2	1	2	2	0	4	4	2	0	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325180C>G	ENST00000559471.1	-	4	909	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D216H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	216							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTGAAGCATCTACCAGAAGC	0.398																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(646-648)Gat>Cat		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							269	243	251					15																	49325180		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49325180C>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.646G>C	15.37:g.49325180C>G	ENSP00000453854:p.Asp216His					SECISBP2L_uc001zxd.2_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.2_5'UTR|SECISBP2L_uc010beq.2_Intron	p.D216H	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN			3	910	-			216					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.646G>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400677	0.83120	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89939	-2.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.91855	0.7422	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92081	0.5672	10	0.52906	T	0.07	.	19.4188	0.94712	0.0:1.0:0.0:0.0	.	216;216	Q93073;Q93073-2	SBP2L_HUMAN;.	H	216	ENSP00000261847:D216H	ENSP00000261847:D216H	D	-	1	0	SECISBP2L	47112472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.658000	0.74407	2.582000	0.87167	0.591000	0.81541	GAT		0.398	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		G	49325180	C	G	49325180	3	3	193	1	0	0	0	0	1	0	0	0	14007	913	32	5	2580	5	SECISBP2L	15	49325180	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	19	49325180	53206212	62	13648			2	38		2	2	20	C		5.216823e-05
FBXO22	26263	broad.mit.edu	37	chr15	76225151	76225151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgaggctgcgatgcAgcgcctcaaagcggccaaca	10	5	13	13	3	1	1	1	1	0	0	1	3	1	1	2	2	6	3	2	2	2	0	rs370353595		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:76225151A>G	ENST00000308275.3	+	7	1025	c.920A>G	c.(919-921)cAg>cGg	p.Q307R	FBXO22_ENST00000540507.1_Missense_Mutation_p.Q203R	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	307					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGCGATGCAGCGCCTCAAA	0.527																																						uc002bbk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(919-921)cAg>cGg		Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.							146	132	137					15																	76225151		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76225151A>G	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.920A>G	15.37:g.76225151A>G	ENSP00000307833:p.Gln307Arg					FBXO22_uc002bbl.3_Missense_Mutation_p.Q203R|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	p.Q307R	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			6	1025	+			307					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.920A>G	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.424930	0.25639	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.52	4.39	0.52855	FIST C domain (1);	0.116770	0.64402	N	0.000011	T	0.41581	0.1165	N	0.25380	0.74	0.46499	D	0.999071	B	0.15141	0.012	B	0.16289	0.015	T	0.17531	-1.0366	9	0.19147	T	0.46	-29.0069	10.945	0.47296	0.9264:0.0:0.0736:0.0	.	307	Q8NEZ5	FBX22_HUMAN	R	307;203	.	ENSP00000307833:Q307R	Q	+	2	0	FBXO22	74012206	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.341000	0.59335	1.029000	0.39812	0.533000	0.62120	CAG		0.527	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		G	76225151	A	G	76225151	3	3	193	1	0	0	0	0	1	0	0	0	5734	188	7	4	983	4	FBXO22	15	76225151	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	26899971	76225151	26306241	63	13649											
TSC2	7249	broad.mit.edu	37	chr16	2138318	2138318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccacatcaagcggctcCgccagcgggtagggaatatg	9	6	13	13	4	1	0	1	0	0	0	3	1	3	1	4	3	2	2	4	3	4	2	rs137854397		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:2138318C>T	ENST00000219476.3	+	41	5881	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	TSC2_ENST00000401874.2_Missense_Mutation_p.R1684C|TSC2_ENST00000350773.4_Missense_Mutation_p.R1728C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1695C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1636C|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000439673.2_Missense_Mutation_p.R1648C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1708C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1751	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.		Missing (in TSC2). {ECO:0000269|PubMed:10607950, ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAAGCGGCTCCGCCAGCGGGT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													uc002con.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(5251-5253)Cgc>Tgc		Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.							44	55	51					16																	2138318		2196	4295	6491	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2138318C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5251C>T	16.37:g.2138318C>T	ENSP00000219476:p.Arg1751Cys					TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.R1728C|TSC2_uc002coo.3_Missense_Mutation_p.R1684C|TSC2_uc010uvv.2_Missense_Mutation_p.R1648C|TSC2_uc010uvw.2_Missense_Mutation_p.R1636C|TSC2_uc002cop.3_Missense_Mutation_p.R1507C|TSC2_uc002coq.3_Missense_Mutation_p.R526C	p.R1751C	NM_000548	NP_000539	P49815	TSC2_HUMAN			40	5357	+		Hepatocellular(780;0.0202)	1751		Missing (in TSC2).	Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.5251C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919461	0.52653	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	4.21	4.21	0.49690	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.996;0.997;0.998;0.991;0.998;0.998;0.994	D	0.96887	0.9650	10	0.87932	D	0	-24.1537	11.6787	0.51444	0.3107:0.6893:0.0:0.0	.	1636;1648;1728;526;1707;1684;1751	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	C	1751;1685;1708;1648;1636;1728	ENSP00000219476:R1751C;ENSP00000248099:R1708C;ENSP00000399232:R1648C;ENSP00000371978:R1636C;ENSP00000344383:R1728C	ENSP00000219476:R1751C	R	+	1	0	TSC2	2078319	0.817000	0.29147	0.959000	0.39883	0.618000	0.37518	1.484000	0.35508	2.065000	0.61736	0.313000	0.20887	CGC		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2138318	C	T	2138318	3	4	193	1	0	0	0	0	1	0	0	0	16603	652	23	2	5409	2	TSC2	16	2138318	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		2138318	88216435	64	13650											
RRAD	6236	broad.mit.edu	37	chr16	66957423	66957424	+	Missense_Mutation	DNP	CA	CA	AC																															cctgccgcctactcaccatcCaccgagacctcacgagagcg																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:66957423_66957424CA>AC	ENST00000299759.6	-	4	894_895	c.644_645TG>GT	c.(643-645)gTG>gGT	p.V215G	RRAD_ENST00000420652.1_Missense_Mutation_p.V215G			P55042	RAD_HUMAN	Ras-related associated with diabetes	215					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACTCACCATCCACCGAGACCTC	0.634																																						uc002eqn.2																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(643-645)gtg>gGT		Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.																																				SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957423_66957424CA>AC	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.644_645delinsAC	16.37:g.66957423_66957424delinsAC	ENSP00000299759:p.Val215Gly					RRAD_uc002eqo.2_Missense_Mutation_p.V215G	p.V215G	NM_001128850	NP_004156	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	3	796_797	-		Ovarian(137;0.192)	215					Q96F39	Missense_Mutation	DNP	ENST00000299759.6	37	c.644_645TG>GT	CCDS10824.1																																																																																				0.634	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		AC	66957424	CA	AC	66957423	3	1	193	1	0	0	0	0	1	0	0	0	13671	581	21	5	289	5	RRAD	16	66957423	Missense_Mutation	DNP	CA	TCGA-27-2521-01A-01D-1494-08	64819105	66957423	23397330	65	13651											
ACADVL	37	broad.mit.edu	37	chr17	7125285	7125285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaggggagactgtggccGctttctgtctaaccgagccc	8	8	12	13	2	2	1	0	0	2	1	2	3	2	1	3	3	3	1	3	3	2	2	rs140629318		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7125285G>A	ENST00000356839.5	+	8	816	c.637G>A	c.(637-639)Gct>Act	p.A213T	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.A236T|ACADVL_ENST00000581562.1_3'UTR|ACADVL_ENST00000350303.5_Missense_Mutation_p.A191T|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	213	Catalytic.		A -> P (in ACADVLD; dbSNP:rs140629318).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GACTGTGGCCGCTTTCTGTCT	0.572																																						uc002gev.3																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21	GRCh37	CM024582|CM990086	ACADVL	M	rs140629318	c.(637-639)Gct>Act		Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							52	57	55					17																	7125285		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7125285G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.637G>A	17.37:g.7125285G>A	ENSP00000349297:p.Ala213Thr					DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.3_Missense_Mutation_p.A191T|ACADVL_uc002gex.3_Missense_Mutation_p.A137T	p.A213T	NM_000018	NP_000009	P49748	ACADV_HUMAN			7	788	+			213		A -> P (in ACADVLD).	Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.637G>A	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842735	0.91197	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.96396	-4.0;-4.0	5.73	5.73	0.89815	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.997;0.999	D	0.99222	1.0879	10	0.87932	D	0	.	17.3864	0.87417	0.0:0.0:1.0:0.0	.	259;236;191;213	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	T	236;259;191;213;259	ENSP00000438689:A236T;ENSP00000344152:A191T	ENSP00000325395:A213T	A	+	1	0	ACADVL	7066009	1.000000	0.71417	0.948000	0.38648	0.394000	0.30568	6.569000	0.73992	2.709000	0.92574	0.563000	0.77884	GCT		0.572	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		A	7125285	G	A	7125285	3	1	193	1	0	0	0	0	1	0	0	0	116	1087	38	1	667	1	ACADVL	17	7125285	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		7125285	74069925	66	13652											
TP53	7157	broad.mit.edu	37	chr17	7577149	7577149	+	Frame_Shift_Del	DEL	A	A	-																															aagctgttccgtcccagtagAttaccactactcaggatagg																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7577149delA	ENST00000269305.4	-	8	978	c.789delT	c.(787-789)aatfs	p.N263fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	263	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263K(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCCCAGTAGATTACCACTAC	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		20	Whole gene deletion(8)|Deletion - In frame(4)|Unknown(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Substitution - Missense(1)	p.G262V(15)|p.0?(8)|p.G262fs*83(5)|p.G262_F270delGNLLGRNSF(4)|p.G262D(4)|p.G262_S269delGNLLGRNS(4)|p.?(3)|p.N263fs*82(3)|p.N263D(2)|p.N263K(2)|p.N263H(2)|p.N263I(2)|p.G262del(2)|p.G262S(2)|p.S261_L264>R(2)|p.N263fs*5(2)|p.G262fs*2(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263fs*84(1)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|lung(2)|ovary(2)|eye(1)|urinary_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(787-789)aatfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							42	38	40					17																	7577149		2203	4299	6502	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577149delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.789delT	17.37:g.7577149delA	ENSP00000269305:p.Asn263fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.N263fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	983	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	263		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.789delT	CCDS11118.1																																																																																				0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577149	A	-	7577149	7	5	193	1	0	1	0	1	0	0	0	0	16378	330	12	0	497	0	TP53	17	7577149	Frame_Shift_Del	DEL	A	TCGA-27-2521-01A-01D-1494-08	451864	7577149	73618061	67	13653											
SLC13A2	9058	broad.mit.edu	37	chr17	26823547	26823547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccttcatgttgcctgTggccaccccgcccaatgcca	5	9	9	18	1	1	0	1	0	0	0	1	0	1	0	8	2	2	1	8	2	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:26823547T>C	ENST00000314669.5	+	11	1970	c.1550T>C	c.(1549-1551)gTg>gCg	p.V517A	SLC13A2_ENST00000444914.3_Missense_Mutation_p.V566A|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V446A|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V474A	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	517					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATGTTGCCTGTGGCCACCCCG	0.617																																						uc010wan.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1696-1698)gTg>gCg		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	Succinic acid(DB00139)						139	119	125					17																	26823547		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26823547T>C	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1550T>C	17.37:g.26823547T>C	ENSP00000316202:p.Val517Ala					SLC13A2_uc010wam.2_Missense_Mutation_p.V473A|SLC13A2_uc002hbh.3_Missense_Mutation_p.V517A|SLC13A2_uc010wao.2_Missense_Mutation_p.V474A|SLC13A2_uc002hbi.3_Missense_Mutation_p.V446A	p.V566A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	10	1764	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		517					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.1697T>C	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883298	0.91740	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.03386	3.95;3.95;3.95;3.95	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	0.998;0.951;1.0;0.999	T	0.00333	-1.1810	10	0.56958	D	0.05	-20.0741	15.6763	0.77326	0.0:0.0:0.0:1.0	.	474;566;446;517	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	A	517;566;474;446	ENSP00000316202:V517A;ENSP00000392411:V566A;ENSP00000441935:V474A;ENSP00000440802:V446A	ENSP00000316202:V517A	V	+	2	0	SLC13A2	23847674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.516000	0.81772	2.107000	0.64212	0.533000	0.62120	GTG		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		C	26823547	T	C	26823547	3	2	193	1	0	0	0	0	1	0	0	0	14392	1696	59	4	1739	4	SLC13A2	17	26823547	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	19246398	26823547	54371663	68	13654											
MYO18A	399687	broad.mit.edu	37	chr17	27424842	27424842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccccgttgatctccgCtgcccggatgagacgggcct	5	9	11	16	4	1	2	0	2	1	1	3	4	2	3	5	2	1	2	5	2	0	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:27424842C>T	ENST00000527372.1	-	26	4246	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A1356T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1356T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1356T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1356					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGATCTCCGCTGCCCGGATG	0.602																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4066-4068)Gcg>Acg		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							122	127	125					17																	27424842		2101	4229	6330	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27424842C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4066G>A	17.37:g.27424842C>T	ENSP00000437073:p.Ala1356Thr					MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	p.A1356T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4224	-			1356					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4066G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703477	0.30232	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.89123	-1.12;-2.47;-1.12;-1.12	5.66	3.5	0.40072	Myosin tail (1);	0.163466	0.56097	D	0.000034	T	0.81531	0.4842	L	0.31065	0.9	0.36501	D	0.869039	B;B;B;B;B	0.12013	0.001;0.001;0.003;0.003;0.005	B;B;B;B;B	0.13407	0.005;0.003;0.004;0.004;0.009	T	0.79332	-0.1847	10	0.34782	T	0.22	.	11.4651	0.50235	0.0:0.8091:0.0:0.1909	.	1025;968;1356;1356;1356	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	T	1356;1356;1356;1356;1356;252;252;968	ENSP00000346291:A1356T;ENSP00000435932:A1356T;ENSP00000434228:A1356T;ENSP00000437073:A1356T	ENSP00000346291:A1356T	A	-	1	0	MYO18A	24448968	0.998000	0.40836	0.989000	0.46669	0.828000	0.46876	3.855000	0.55957	1.400000	0.46741	-0.136000	0.14681	GCG		0.602	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27424842	C	T	27424842	3	4	193	1	0	0	0	0	1	0	0	0	10065	797	28	3	2166	3	MYO18A	17	27424842	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	601295	27424842	53770368	69	13655											
SUZ12	23512	broad.mit.edu	37	chr17	30320320	30320320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaaggatactccaaatGaaaaccgacaaaaattaaga	24	5	6	6	1	0	3	0	1	0	2	1	5	1	4	2	1	2	0	2	1	10	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:30320320G>A	ENST00000322652.5	+	11	1490	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SUZ12_ENST00000580398.1_Missense_Mutation_p.E398K	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	421					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TACTCCAAATGAAAACCGACA	0.264			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1261-1263)Gaa>Aaa		Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.							36	37	37					17																	30320320		2194	4272	6466	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30320320G>A	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1261G>A	17.37:g.30320320G>A	ENSP00000316578:p.Glu421Lys					SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	p.E421K	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			10	1483	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	421					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1261G>A	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.386658	0.61956	.	.	ENSG00000178691	ENST00000322652	T	0.46451	0.87	5.18	5.18	0.71444	.	0.050422	0.85682	D	0.000000	T	0.49287	0.1548	N	0.20685	0.6	0.58432	D	0.999999	B;D	0.63880	0.15;0.993	B;D	0.70935	0.027;0.971	T	0.38520	-0.9657	10	0.21540	T	0.41	-5.5403	19.097	0.93257	0.0:0.0:1.0:0.0	.	421;421	A8K1U9;Q15022	.;SUZ12_HUMAN	K	421	ENSP00000316578:E421K	ENSP00000316578:E421K	E	+	1	0	SUZ12	27344433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.592000	0.87571	0.644000	0.83932	GAA		0.264	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		A	30320320	G	A	30320320	3	1	193	1	0	0	0	0	1	0	0	0	15413	1291	45	3	1303	3	SUZ12	17	30320320	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	2895478	30320320	50874890	70	13656											
GNGT2	2793	broad.mit.edu	37	chr17	47284162	47284162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgaagggattcttgTcctcagggatgcctttgaga	7	14	11	9	0	3	2	1	2	2	1	5	5	4	4	3	2	1	0	3	2	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:47284162T>C	ENST00000511277.1	-	4	346	c.167A>G	c.(166-168)gAc>gGc	p.D56G	GNGT2_ENST00000300406.2_Missense_Mutation_p.D56G|GNGT2_ENST00000515635.1_Missense_Mutation_p.D56G|GNGT2_ENST00000503070.1_Missense_Mutation_p.D56G|GNGT2_ENST00000507680.1_Missense_Mutation_p.D56G|GNGT2_ENST00000511673.1_Missense_Mutation_p.D56G	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	56					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGGATTCTTGTCCTCAGGGAT	0.507																																						uc002ioo.2																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(166-168)gAc>gGc		Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.							172	148	156					17																	47284162		2203	4300	6503	SO:0001583	missense	2793				G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr17:47284162T>C		CCDS11545.1	17q21	2003-12-17				ENSG00000167083			4412	protein-coding gene	gene with protein product		139391				9286705	Standard	NM_031498		Approved	GNG9	uc021tzq.1	O14610		ENST00000511277.1:c.167A>G	17.37:g.47284162T>C	ENSP00000426022:p.Asp56Gly					GNGT2_uc021tzo.1_Missense_Mutation_p.D56G|GNGT2_uc021tzp.1_Missense_Mutation_p.D56G|GNGT2_uc021tzq.1_Missense_Mutation_p.D56G	p.D56G	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		3	474	-			56					B2R746|D3DTW5	Missense_Mutation	SNP	ENST00000511277.1	37	c.167A>G	CCDS11545.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161281	0.78226	.	.	ENSG00000167083	ENST00000503070;ENST00000511277;ENST00000300406;ENST00000515635;ENST00000507680;ENST00000511673	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.82	4.82	0.62117	G-protein gamma domain (5);	0.055985	0.64402	D	0.000002	T	0.43567	0.1253	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.28490	-1.0042	9	0.38643	T	0.18	-20.5988	13.4962	0.61428	0.0:0.0:0.0:1.0	.	56	O14610	GBGT2_HUMAN	G	56	ENSP00000420946:D56G;ENSP00000426022:D56G;ENSP00000300406:D56G;ENSP00000423924:D56G;ENSP00000421710:D56G;ENSP00000422879:D56G	ENSP00000300406:D56G	D	-	2	0	GNGT2	44639161	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.482000	0.81143	2.035000	0.60131	0.459000	0.35465	GAC		0.507	GNGT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364482.1	NM_031498		C	47284162	T	C	47284162	3	2	193	1	0	0	0	0	1	0	0	0	6534	1667	58	4	46	4	GNGT2	17	47284162	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	16963842	47284162	33911048	71	13657											
WIPI1	55062	broad.mit.edu	37	chr17	66417949	66417949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccttctgatttccacGgcacaagattatctaccaaa	11	13	5	12	1	2	2	0	1	2	1	3	2	3	2	3	1	2	1	3	1	4	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:66417949G>A	ENST00000262139.5	-	13	1305	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	RP11-120M18.2_ENST00000592030.1_RNA|MIR635_ENST00000384830.1_RNA|WIPI1_ENST00000589459.1_5'UTR|ARSG_ENST00000448504.2_3'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R354C	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	436					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGATTTCCACGGCACAAGATT	0.468																																						uc010dey.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1306-1308)Cgt>Tgt		Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.							203	170	182					17																	66417949		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66417949G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1306C>T	17.37:g.66417949G>A	ENSP00000262139:p.Arg436Cys					WIPI1_uc010wqo.2_Missense_Mutation_p.R354C	p.R436C	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			12	1397	-			436					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.1306C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601690	0.87055	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57595	0.8;0.39	6.06	6.06	0.98353	.	0.185215	0.44688	D	0.000421	T	0.61426	0.2346	L	0.41236	1.265	0.54753	D	0.999984	D	0.76494	0.999	P	0.56088	0.791	T	0.62086	-0.6928	10	0.87932	D	0	-13.428	18.8014	0.92018	0.0:0.0:1.0:0.0	.	436	Q5MNZ9	WIPI1_HUMAN	C	436;354	ENSP00000262139:R436C;ENSP00000437345:R354C	ENSP00000262139:R436C	R	-	1	0	WIPI1	63929544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.255000	0.72466	2.882000	0.98803	0.655000	0.94253	CGT		0.468	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		A	66417949	G	A	66417949	3	1	193	1	0	0	0	0	1	0	0	0	17367	1116	39	2	38	2	WIPI1	17	66417949	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	19133787	66417949	14777261	72	13658											
CLUL1	27098	broad.mit.edu	37	chr18	633305	633305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgttccctgtagctcctgaCcacggaggcctgatttcaaa	9	11	9	12	1	1	2	1	2	0	0	3	3	3	3	4	2	1	3	4	2	2	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:633305C>A	ENST00000400606.2	+	6	1009	c.864C>A	c.(862-864)gaC>gaA	p.D288E	CLUL1_ENST00000338387.7_Missense_Mutation_p.D288E|CLUL1_ENST00000581619.1_Missense_Mutation_p.D313E|CLUL1_ENST00000579494.1_Missense_Mutation_p.D288E|CLUL1_ENST00000540035.1_Missense_Mutation_p.D340E	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	288					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGCTCCTGACCACGGAGGCC	0.428																																						uc010wys.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1018-1020)gaC>gaA		Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.							95	93	93					18																	633305		1876	4104	5980	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:633305C>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.864C>A	18.37:g.633305C>A	ENSP00000383449:p.Asp288Glu					CLUL1_uc002kkp.3_Missense_Mutation_p.D288E|CLUL1_uc002kkq.3_Missense_Mutation_p.D288E	p.D340E	NM_199167	NP_954636	Q15846	CLUL1_HUMAN			7	1254	+			288					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.1020C>A	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557640	0.27827	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.20069	2.1;2.1;2.1	5.22	2.39	0.29439	Clusterin, C-terminal (1);	1.193580	0.05769	N	0.606432	T	0.21062	0.0507	L	0.50333	1.59	0.09310	N	1	P;P	0.43231	0.763;0.801	B;B	0.43990	0.311;0.438	T	0.15752	-1.0426	10	0.08599	T	0.76	1.0202	5.479	0.16713	0.147:0.636:0.1415:0.0756	.	340;288	F5GWQ8;Q15846	.;CLUL1_HUMAN	E	288;340;288	ENSP00000383449:D288E;ENSP00000441726:D340E;ENSP00000341128:D288E	ENSP00000341128:D288E	D	+	3	2	CLUL1	623305	0.002000	0.14202	0.002000	0.10522	0.068000	0.16541	0.243000	0.18106	0.189000	0.20188	-0.165000	0.13383	GAC		0.428	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			A	633305	C	A	633305	3	1	193	1	0	0	0	0	1	0	0	0	3570	506	18	5	882	5	CLUL1	18	633305	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		633305	77443943	73	13659											
TCEB3C	162699	broad.mit.edu	37	chr18	44554624	44554624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaattgccttggccatcagCggggccactttcttggcagc	6	10	12	13	2	2	0	1	0	1	0	2	1	2	0	3	4	3	1	3	4	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:44554624C>T	ENST00000330682.2	-	1	1825	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGGCCATCAGCGGGGCCACTT	0.632																																						uc010xdb.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1588-1590)ccG>ccA		Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.							5	3	4					18																	44554624		774	1406	2180	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554624C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1590G>A	18.37:g.44554624C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.P530P	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			0	1826	-			530						Silent	SNP	ENST00000330682.2	37	c.1590G>A	CCDS11931.1																																																																																				0.632	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		T	44554624	C	T	44554624	2	4	193	1	0	0	0	0	0	0	0	1	15680	755	27	1		1	TCEB3C	18	44554624	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	43921319	44554624	33522624	74	13660											
SLC39A3	29985	broad.mit.edu	37	chr19	2733097	2733097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acggccacccccacgaacagGctcaccactttctccccctc	8	6	5	22	2	2	0	1	0	1	0	4	1	2	0	6	2	1	1	6	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:2733097G>A	ENST00000269740.4	-	3	926	c.597C>T	c.(595-597)agC>agT	p.S199S	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Silent_p.S199S	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGAACAGGCTCACCACTT	0.716																																						uc010xgy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(595-597)agC>agT		Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.							35	38	37					19																	2733097		2145	4184	6329	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733097G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.597C>T	19.37:g.2733097G>A						SLC39A3_uc002lwg.3_Silent_p.S199S	p.S199S	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	851	-		Hepatocellular(1079;0.137)	199					B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.597C>T	CCDS12093.1																																																																																				0.716	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			A	2733097	G	A	2733097	2	1	193	1	0	0	0	0	0	0	0	1	14619	1194	42	3		3	SLC39A3	19	2733097	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08		2733097	56395886	75	13661											
OR2Z1	284383	broad.mit.edu	37	chr19	8841547	8841547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgatccgtgtggacTcccggctccatacacccatg	6	12	8	15	2	2	1	0	1	2	0	5	2	5	2	4	2	1	1	4	2	1	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:8841547T>C	ENST00000324060.2	+	1	232	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGTGTGGACTCCCGGCTCCA	0.542																																						uc010xkg.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(157-159)Tcc>Ccc		Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.							164	144	151					19																	8841547		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841547T>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.157T>C	19.37:g.8841547T>C	ENSP00000316284:p.Ser53Pro						p.S53P	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			0	157	+			53					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.157T>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	0.123	-1.122744	0.01785	.	.	ENSG00000181733	ENST00000324060	T	0.00495	6.99	4.23	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.935126	0.08980	N	0.865891	T	0.00271	0.0008	N	0.20574	0.59	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31641	-0.9936	10	0.09338	T	0.73	.	3.8486	0.08945	0.3034:0.3776:0.0:0.319	.	53	Q8NG97	OR2Z1_HUMAN	P	53	ENSP00000316284:S53P	ENSP00000316284:S53P	S	+	1	0	OR2Z1	8702547	0.000000	0.05858	0.063000	0.19743	0.065000	0.16274	-0.186000	0.09670	-0.420000	0.07427	0.444000	0.29173	TCC		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			C	8841547	T	C	8841547	3	2	193	1	0	0	0	0	1	0	0	0	11036	1551	54	4	159	4	OR2Z1	19	8841547	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	6108450	8841547	50287436	76	13662											
CIC	23152	broad.mit.edu	37	chr19	42795881	42795881	+	Frame_Shift_Del	DEL	C	C	-																															agtacctgtgcagaatggtgCccagccccccagcaaggtga																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:42795881delC	ENST00000575354.2	+	11	2910	c.2870delC	c.(2869-2871)gccfs	p.A957fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.A957fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.A1866fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	957	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGAATGGTGCCCAGCCCCCC	0.602			"Mis, F, S"		oligodendroglioma																																	uc002otf.1				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(2869-2871)gccfs		Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.							36	41	39					19																	42795881		2114	4170	6284	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795881delC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2870delC	19.37:g.42795881delC	ENSP00000458663:p.Ala957fs						p.A957fs	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	2910	+		Prostate(69;0.00682)	957			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.2870delC	CCDS12601.1																																																																																				0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			-	42795881	C	-	42795881	7	5	193	1	0	1	0	1	0	0	0	0	3424	739	26	0	2912	0	CIC	19	42795881	Frame_Shift_Del	DEL	C	TCGA-27-2521-01A-01D-1494-08	33954334	42795881	16333102	77	13663											
GPR4	2828	broad.mit.edu	37	chr19	46094298	46094298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgccacacagttgaggCtggtgaaagccagtgagctg	9	7	15	10	1	0	3	0	3	0	0	1	3	1	3	3	3	2	3	3	3	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:46094298C>T	ENST00000323040.4	-	2	1771	c.827G>A	c.(826-828)aGc>aAc	p.S276N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	276					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGTTGAGGCTGGTGAAAGC	0.647																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(826-828)aGc>aAc		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							41	44	43					19																	46094298		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094298C>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.827G>A	19.37:g.46094298C>T	ENSP00000319744:p.Ser276Asn					OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.S276N	p.S276N	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1772	-			276					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.827G>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717452	0.68844	.	.	ENSG00000177464	ENST00000323040	T	0.72394	-0.65	4.74	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	L	0.58810	1.83	0.37587	D	0.92005	D	0.89917	1.0	D	0.74674	0.984	T	0.79792	-0.1654	10	0.59425	D	0.04	.	7.7729	0.29019	0.1862:0.6338:0.18:0.0	.	276	P46093	GPR4_HUMAN	N	276	ENSP00000319744:S276N	ENSP00000319744:S276N	S	-	2	0	GPR4	50786138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.900000	0.39828	1.180000	0.42898	0.455000	0.32223	AGC		0.647	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094298	C	T	46094298	3	4	193	1	0	0	0	0	1	0	0	0	6694	797	28	3	265	3	GPR4	19	46094298	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	3298417	46094298	13034685	78	13664											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503900	47503901	+	Frame_Shift_Ins	INS	-	-	C																															ccaccccccagtccccaatgINScagccactgcttccctccca																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:47503900_47503901insC	ENST00000404338.3	+	6	4455_4456	c.4455_4456insC	c.(4456-4458)cagfs	p.Q1486fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1486	Pro-rich.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGTCCCCAATGCAGCCACTGCT	0.649																																						uc010ekv.3																			0											c.(4453-4458)atgcagfs		Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.																																				SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503900_47503901insC	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4456dupC	19.37:g.47503901_47503901dupC	ENSP00000385720:p.Gln1486fs						p.M1485fs	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN			5	4455_4456	+			1485			Pro-rich.		A7E2A4|Q14452|Q9C0E1	Frame_Shift_Ins	INS	ENST00000404338.3	37	c.4455_4456insC	CCDS46127.1																																																																																				0.649	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		C	47503901	-	C	47503900	7	5	193	1	0	1	1	0	0	0	0	0	6795	1319	46	0	4477	0	ARHGAP35	19	47503900	Frame_Shift_Ins	INS	-	TCGA-27-2521-01A-01D-1494-08	1409602	47503900	11625083	79	13665											
ZNF71	58491	broad.mit.edu	37	chr19	57132720	57132721	+	Frame_Shift_Ins	INS	-	-	G																															tccgttgttggggaggccacINSggggggacccacgaggaatg																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:57132720_57132721insG	ENST00000328070.6	+	3	299_300	c.65_66insG	c.(64-69)acggggfs	p.TG22fs		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGAGGCCACGGGGGGACCCA	0.554																																						uc002qnm.4																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(64-66)acgfs		Homo sapiens zinc finger protein 71 (ZNF71), mRNA.																																				SO:0001589	frameshift_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132720_57132721insG	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.71dupG	19.37:g.57132726_57132726dupG	ENSP00000328245:p.Thr22fs					ZNF71_uc021vcg.1_Frame_Shift_Ins_p.T22fs	p.T22fs	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	2	303_304	+			22					Q15919|Q9UC09|Q9UQD3	Frame_Shift_Ins	INS	ENST00000328070.6	37	c.65_66insG	CCDS12947.1																																																																																				0.554	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		G	57132721	-	G	57132720	7	5	193	1	0	1	1	0	0	0	0	0	18111	536	19	0	67	0	ZNF71	19	57132720	Frame_Shift_Ins	INS	-	TCGA-27-2521-01A-01D-1494-08	9628820	57132720	1996263	80	13666											
SPTLC3	55304	broad.mit.edu	37	chr20	13052999	13052999	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccggcccatctgcagtgcCccagggcctctgtttgattt	6	11	10	14	1	2	1	0	1	2	0	2	1	2	1	5	2	3	2	5	2	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:13052999C>G	ENST00000399002.2	+	3	673	c.399C>G	c.(397-399)gcC>gcG	p.A133A	SPTLC3_ENST00000378194.4_Silent_p.A133A	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	133					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCTGCAGTGCCCCAGGGCCTC	0.438																																						uc002wod.1																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(397-399)gcC>gcG		Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	Pyridoxal Phosphate(DB00114)						207	212	210					20																	13052999		1833	4083	5916	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13052999C>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.399C>G	20.37:g.13052999C>G							p.A133A	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			2	688	+			133					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.399C>G	CCDS13115.2																																																																																				0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		G	13052999	C	G	13052999	2	3	193	1	0	0	0	0	0	0	0	1	15124	610	22	5		5	SPTLC3	20	13052999	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08		13052999	49972521	81	13667											
ZNF831	128611	broad.mit.edu	37	chr20	57829379	57829379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacagaagagggcagaGcacagaccctcttgccaggg	13	4	13	11	0	2	4	1	0	1	4	2	4	2	4	2	2	2	2	2	2	2	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:57829379G>A	ENST00000371030.2	+	5	4615	c.4615G>A	c.(4615-4617)Gca>Aca	p.A1539T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1539							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGGGCAGAGCACAGACCCT	0.498																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4615-4617)Gca>Aca		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							38	42	41					20																	57829379		2045	4211	6256	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829379G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4615G>A	20.37:g.57829379G>A	ENSP00000360069:p.Ala1539Thr						p.A1539T	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			4	4615	+	all_lung(29;0.0085)		1539					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4615G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909974	0.33721	.	.	ENSG00000124203	ENST00000371030	T	0.04603	3.59	5.54	-2.51	0.06365	.	0.439309	0.19492	N	0.112962	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.42632	-0.9440	10	0.20519	T	0.43	-1.2079	0.347	0.00343	0.2491:0.1616:0.2746:0.3146	.	1539	Q5JPB2	ZN831_HUMAN	T	1539	ENSP00000360069:A1539T	ENSP00000360069:A1539T	A	+	1	0	ZNF831	57262774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.338000	0.07842	-0.442000	0.07190	-1.069000	0.02264	GCA		0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57829379	G	A	57829379	3	1	193	1	0	0	0	0	1	0	0	0	18182	971	34	3	4633	3	ZNF831	20	57829379	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	44776380	57829379	5196141	82	13668											
MAGEB16	139604	broad.mit.edu	37	chrX	35820799	35820799	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagagcttctgagcacctAgagatgatatttggccttga	10	12	11	8	0	1	5	0	4	1	2	1	7	1	5	2	1	2	2	2	1	2	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:35820799A>G	ENST00000399989.1	+	2	765	c.486A>G	c.(484-486)ctA>ctG	p.L162L	MAGEB16_ENST00000399987.1_Silent_p.L162L|MAGEB16_ENST00000399988.1_Silent_p.L162L|MAGEB16_ENST00000399985.1_Silent_p.L162L|MAGEB16_ENST00000399992.1_Silent_p.L194L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	162	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAGCACCTAGAGATGATAT	0.468																																						uc010ngt.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(484-486)ctA>ctG		Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.							86	84	85					X																	35820799		2073	4191	6264	SO:0001819	synonymous_variant	139604							g.chrX:35820799A>G		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.486A>G	X.37:g.35820799A>G						MAGEB16_uc022bus.1_Silent_p.L162L	p.L162L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			1	765	+			162			MAGE.		A8MU30	Silent	SNP	ENST00000399989.1	37	c.486A>G	CCDS43927.1																																																																																				0.468	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			G	35820799	A	G	35820799	2	3	193	1	0	0	0	0	0	0	0	1	9174	407	15	4		4	MAGEB16	23	35820799	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		35820799	119449761	83	13669											
WDR13	64743	broad.mit.edu	37	chrX	48458765	48458765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgctgctcactcgaCggcagcatctccctgtgcca	5	9	10	17	2	2	0	1	0	1	0	4	1	2	0	3	2	4	4	3	2	0	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:48458765C>T	ENST00000218056.5	+	5	1087	c.582C>T	c.(580-582)gaC>gaT	p.D194D	WDR13_ENST00000376729.5_Silent_p.D194D	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	194						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCACTCGACGGCAGCATCT	0.632																																						uc004dkj.2																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(580-582)gaC>gaT		Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.							88	60	69					X																	48458765		2203	4300	6503	SO:0001819	synonymous_variant	64743					cytoplasm|nucleus		g.chrX:48458765C>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.582C>T	X.37:g.48458765C>T						WDR13_uc004dkk.2_Silent_p.D102D|WDR13_uc004dkl.4_Silent_p.D102D|WDR13_uc011mme.2_Silent_p.D72D	p.D194D	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN			4	1087	+			194					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	c.582C>T	CCDS14302.1																																																																																				0.632	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			T	48458765	C	T	48458765	2	4	193	1	0	0	0	0	0	0	0	1	17272	535	19	1		1	WDR13	23	48458765	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	12637966	48458765	106811795	84	13670											
ATRX	546	broad.mit.edu	37	chrX	76875916	76875916	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaataatcctcctccttGatcgtatagaattcatagct	13	15	4	9	1	1	2	1	1	0	1	5	2	4	2	3	0	1	2	3	0	7	7			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:76875916G>C	ENST00000373344.5	-	20	5433	c.5219C>G	c.(5218-5220)tCa>tGa	p.S1740*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1702*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1740	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S1740*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTCCTCCTTGATCGTATAGA	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Nonsense(2)|Unknown(1)	p.S1740*(3)|p.R1739*(1)|p.?(1)	lung(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5218-5220)tCa>tGa		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						81	68	72					X																	76875916		2202	4294	6496	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875916G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5219C>G	X.37:g.76875916G>C	ENSP00000362441:p.Ser1740*					ATRX_uc004ecq.4_Nonsense_Mutation_p.S1702*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1525*	p.S1740*	NM_000489	NP_000480	P46100	ATRX_HUMAN			19	5451	-			1740			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.5219C>G	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.761810|5.761810	0.96906|0.96906	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|.	.|.	.|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.084915	.|0.49916	.|D	.|0.000125	T|.	0.76263|.	0.3963|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80656|.	-0.1285|.	4|.	.|0.87932	.|D	.|0	-4.159|-4.159	16.6125|16.6125	0.84892|0.84892	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	29|1740;1702	.|.	.|ENSP00000362441:S1740X	Q|S	-|-	1|2	0|0	ATRX|ATRX	76762572|76762572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.439000|9.439000	0.97543|0.97543	1.833000|1.833000	0.53350|0.53350	0.600000|0.600000	0.82982|0.82982	CAA|TCA		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76875916	G	C	76875916	4	2	193	1	0	0	0	0	0	1	0	0	1208	1294	45	5	2323	5	ATRX	23	76875916	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	28417151	76875916	78394644	85	13671											
HRNR	388697	broad.mit.edu	37	chr1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagctagatccgtgtcGttcacccctagatgactgtc	8	11	9	13	2	1	4	1	2	0	2	4	4	2	4	4	0	1	2	4	0	2	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:152187663G>A	ENST00000368801.2	-	3	6517	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R2148*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587																																						uc001ezt.1																			1	Substitution - Nonsense(1)	p.R2148*(2)|p.R2148L(1)	endometrium(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6442-6444)Cga>Tga		Homo sapiens hornerin (HRNR), mRNA.																																				SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187663G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6442C>T	1.37:g.152187663G>A	ENSP00000357791:p.Arg2148*						p.R2148*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6518	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2148					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6442C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	44	10.888224	0.99483	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.06	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	4.6058	0.12376	0.128:0.2295:0.6425:0.0	.	.	.	.	X	2148	.	ENSP00000357791:R2148X	R	-	1	2	HRNR	150454287	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.586000	0.23894	0.829000	0.34733	0.603000	0.83216	CGA		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152187663	G	A	152187663	4	1	194	1	0	0	0	0	0	1	0	0	7359	1153	40	1	2114	1	HRNR	1	152187663	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		152187663	97062958	1	13672											
MEF2D	4209	broad.mit.edu	37	chr1	156446904	156446904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgggtaggtgggggtGgagacttggcagggatgacc	6	9	21	5	0	0	2	0	1	0	1	0	4	0	3	1	7	1	3	1	7	1	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:156446904G>A	ENST00000348159.4	-	7	1235	c.755C>T	c.(754-756)cCa>cTa	p.P252L	MEF2D_ENST00000368240.2_Missense_Mutation_p.P252L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P206L|MEF2D_ENST00000340875.5_Missense_Mutation_p.P251L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P252L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P251L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	252	Poly-Pro.				adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTGGGGGTGGAGACTTGGC	0.607																																						uc001fpc.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(754-756)cCa>cTa		Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.							83	76	78					1																	156446904		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156446904G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.755C>T	1.37:g.156446904G>A	ENSP00000271555:p.Pro252Leu					MEF2D_uc001fpb.3_Missense_Mutation_p.P252L|MEF2D_uc001fpd.3_Missense_Mutation_p.P252L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L	p.P252L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			6	1145	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		252			Poly-Pro.		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.755C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271162	0.80469	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.52364	1.645	0.80722	D	1	B;B;B	0.32893	0.389;0.114;0.308	B;B;B	0.40565	0.098;0.051;0.333	T	0.12400	-1.0549	10	0.52906	T	0.07	-12.8772	18.1525	0.89678	0.0:0.0:1.0:0.0	.	257;252;252	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	L	252;251;252;206;252;251	ENSP00000271555:P252L;ENSP00000343159:P251L;ENSP00000357223:P252L;ENSP00000344705:P206L;ENSP00000353803:P252L;ENSP00000388505:P251L	ENSP00000343159:P251L	P	-	2	0	MEF2D	154713528	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	9.238000	0.95380	2.626000	0.88956	0.655000	0.94253	CCA		0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		A	156446904	G	A	156446904	3	1	194	1	0	0	0	0	1	0	0	0	9458	1348	47	3	834	3	MEF2D	1	156446904	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	4259241	156446904	92803717	2	13673											
FCER1A	2205	broad.mit.edu	37	chr1	159275846	159275846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttcctcaggtgccatGgttggaggaactgggatgtg	6	11	14	10	0	2	0	1	0	1	0	3	3	3	3	3	5	2	1	3	5	1	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:159275846G>A	ENST00000368115.1	+	5	499	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	FCER1A_ENST00000368114.1_Missense_Mutation_p.G101S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	134	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAGGTGCCATGGTTGGAGGAA	0.468																																						uc001ftq.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(400-402)Ggt>Agt		Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						122	111	115					1																	159275846		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275846G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.400G>A	1.37:g.159275846G>A	ENSP00000357097:p.Gly134Ser						p.G134S	NM_002001	NP_001992	P12319	FCERA_HUMAN			4	497	+	all_hematologic(112;0.0429)		134			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.400G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	0.691	-0.794497	0.02862	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.11385	2.78;2.78	4.78	-2.36	0.06663	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.900772	0.09599	N	0.780442	T	0.01061	0.0035	N	0.05534	-0.03	0.09310	N	1	B	0.17465	0.022	B	0.21360	0.034	T	0.47484	-0.9114	10	0.02654	T	1	.	10.7581	0.46249	0.579:0.0:0.421:0.0	.	134	P12319	FCERA_HUMAN	S	134;101	ENSP00000357097:G134S;ENSP00000357096:G101S	ENSP00000357096:G101S	G	+	1	0	FCER1A	157542470	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.541000	0.06099	-1.103000	0.03019	-0.813000	0.03139	GGT		0.468	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		A	159275846	G	A	159275846	3	1	194	1	0	0	0	0	1	0	0	0	5774	1348	47	3	414	3	FCER1A	1	159275846	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	2828942	159275846	89974775	3	13674											
DUSP27	92235	broad.mit.edu	37	chr1	167097485	167097485	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaggagagcccagagccCtacttcttccgccggacccc	8	5	11	17	3	1	3	0	0	1	3	2	6	2	4	6	2	3	0	6	2	1	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:167097485C>A	ENST00000361200.2	+	6	3283	c.3117C>A	c.(3115-3117)ccC>ccA	p.P1039P	DUSP27_ENST00000443333.1_Silent_p.P1039P|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.P1039P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1039					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCCAGAGCCCTACTTCTTCC	0.587																																						uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3115-3117)ccC>ccA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.							34	39	37					1																	167097485		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097485C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3117C>A	1.37:g.167097485C>A							p.P1039P	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	3133	+			1039					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.3117C>A	CCDS30932.1																																																																																				0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167097485	C	A	167097485	2	1	194	1	0	0	0	0	0	0	0	1	4824	668	24	5		5	DUSP27	1	167097485	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08	7821639	167097485	82153136	4	13675											
HMCN1	83872	broad.mit.edu	37	chr1	185878633	185878633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgattgaaattcgcaaTcctttaggtgagatatatca	14	13	7	7	1	1	3	1	3	0	1	3	4	2	3	2	1	0	1	2	1	6	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:185878633T>A	ENST00000271588.4	+	5	1015	c.786T>A	c.(784-786)aaT>aaA	p.N262K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N262K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	262					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATTCGCAATCCTTTAGGTG	0.363																																						uc001grq.1																			0		p.R261H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(784-786)aaT>aaA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							98	91	93					1																	185878633		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185878633T>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.786T>A	1.37:g.185878633T>A	ENSP00000271588:p.Asn262Lys						p.N262K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			4	1015	+			262					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.786T>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.379346	0.42207	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.14;-0.15	6.07	4.95	0.65309	.	0.257927	0.47093	D	0.000259	T	0.53642	0.1809	L	0.43152	1.355	0.38331	D	0.943801	B	0.32573	0.376	B	0.30401	0.115	T	0.59166	-0.7505	10	0.72032	D	0.01	.	11.9349	0.52868	0.0:0.0673:0.0:0.9327	.	262	Q96RW7	HMCN1_HUMAN	K	262	ENSP00000271588:N262K;ENSP00000356462:N262K	ENSP00000271588:N262K	N	+	3	2	HMCN1	184145256	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	1.566000	0.36396	1.126000	0.42016	0.477000	0.44152	AAT		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185878633	T	A	185878633	3	1	194	1	0	0	0	0	1	0	0	0	7220	1432	50	5	804	5	HMCN1	1	185878633	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	18781148	185878633	63371988	5	13676											
LAMB3	3914	broad.mit.edu	37	chr1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcgctggcaccttccGcaagctgctgggcctggact	4	9	12	16	2	0	0	0	0	0	0	2	1	1	1	4	3	3	6	4	3	1	1	rs368115484		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209790792G>A	ENST00000356082.4	-	21	3325	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V|LAMB3_ENST00000391911.1_Missense_Mutation_p.A1064V	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1064	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		16879	0		0	False		,,,				2504	0					uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	GRCh37	CP025158	LAMB3	X		c.(3190-3192)gCg>gTg		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	75	73	74		3191,3191,3191	5.8	0.4	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1064/1173,1064/1173,1064/1173	209790792	1,13005	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209790792G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3191C>T	1.37:g.209790792G>A	ENSP00000348384:p.Ala1064Val					LAMB3_uc009xco.3_Missense_Mutation_p.A1064V|LAMB3_uc001hhh.3_Missense_Mutation_p.A1064V	p.A1064V	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	19	3581	-			1064			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3191C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652405	0.67472	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.78003	1.89;1.89;1.89;-1.14	5.77	5.77	0.91146	.	0.109031	0.64402	D	0.000010	T	0.70527	0.3234	L	0.34521	1.04	0.44323	D	0.997209	P	0.51351	0.944	B	0.41917	0.37	T	0.75639	-0.3248	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.0:1.0:0.0	.	1064	Q13751	LAMB3_HUMAN	V	1064;1064;1064;133	ENSP00000375778:A1064V;ENSP00000348384:A1064V;ENSP00000355997:A1064V;ENSP00000398683:A133V	ENSP00000348384:A1064V	A	-	2	0	LAMB3	207857415	0.980000	0.34600	0.383000	0.26132	0.309000	0.27889	5.823000	0.69272	2.743000	0.94032	0.456000	0.33151	GCG		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209790792	G	A	209790792	3	1	194	1	0	0	0	0	1	0	0	0	8612	1087	38	1	339	1	LAMB3	1	209790792	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	23912159	209790792	39459829	6	13677											
LAMB3	3914	broad.mit.edu	37	chr1	209801465	209801465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccctgcacatgctccttGcacacacactgcccggtcac	7	9	6	19	1	2	0	1	0	1	0	4	0	3	0	3	1	4	3	3	1	0	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209801465G>C	ENST00000356082.4	-	11	1337	c.1203C>G	c.(1201-1203)tgC>tgG	p.C401W	LAMB3_ENST00000367030.3_Missense_Mutation_p.C401W|LAMB3_ENST00000391911.1_Missense_Mutation_p.C401W	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	401	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CATGCTCCTTGCACACACACT	0.642											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1201-1203)tgC>tgG		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.							57	41	46					1																	209801465		2200	4298	6498	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209801465G>C	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1203C>G	1.37:g.209801465G>C	ENSP00000348384:p.Cys401Trp		OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2185	LAMB3_uc009xco.3_Missense_Mutation_p.C401W|LAMB3_uc001hhh.3_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_Non-coding_Transcript	p.C401W	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	9	1593	-			401			Laminin EGF-like 3.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1203C>G	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314398	0.40996	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	D;D;D	0.94330	-3.4;-3.4;-3.4	5.12	2.23	0.28157	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97949	0.9325	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95774	0.8811	10	0.87932	D	0	.	8.2499	0.31710	0.3903:0.0:0.6097:0.0	.	401	Q13751	LAMB3_HUMAN	W	401	ENSP00000375778:C401W;ENSP00000348384:C401W;ENSP00000355997:C401W	ENSP00000348384:C401W	C	-	3	2	LAMB3	207868088	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.537000	0.36083	0.280000	0.22209	0.456000	0.33151	TGC		0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		C	209801465	G	C	209801465	3	2	194	1	0	0	0	0	1	0	0	0	8612	1311	46	5	2367	5	LAMB3	1	209801465	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	10673	209801465	39449156	7	13678											
C1orf107	27042	broad.mit.edu	37	chr1	210001468	210001468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaccctaactaaaaagcaGaagaaacatcttcgagattt	19	8	5	9	1	1	3	0	0	1	3	2	4	1	3	1	0	4	1	1	0	7	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:210001468G>C	ENST00000491415.2	+	1	117	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	20					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTAAAAAGCAGAAGAAACATC	0.547											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhr.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(58-60)caG>caC		Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.							79	76	77					1																	210001468		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210001468G>C	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.60G>C	1.37:g.210001468G>C	ENSP00000419005:p.Gln20His		OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187	DIEXF_uc009xcu.2_5'UTR	p.Q20H	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN			0	157	+			20					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.60G>C	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733273	0.89482	.	.	ENSG00000117597	ENST00000491415	T	0.48522	0.81	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.68593	2.085	0.54753	D	0.99998	D	0.65815	0.995	D	0.77557	0.99	T	0.70714	-0.4796	10	0.62326	D	0.03	-21.2024	18.407	0.90539	0.0:0.0:1.0:0.0	.	20	Q68CQ4	DIEXF_HUMAN	H	20	ENSP00000419005:Q20H	ENSP00000419005:Q20H	Q	+	3	2	DIEXF	208068091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.796000	0.55507	2.427000	0.82271	0.655000	0.94253	CAG		0.547	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		C	210001468	G	C	210001468	3	2	194	1	0	0	0	0	1	0	0	0	1981	933	33	5	62	5	C1orf107	1	210001468	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	200003	210001468	39249153	8	13679			1	39		2	2	26	G		5.249123e-05
C1orf107	27042	broad.mit.edu	37	chr1	210001493	210001493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttcgagatttcggcGaggagcatcccttctatgac	10	11	9	11	3	2	2	0	1	2	1	5	5	3	3	1	2	2	1	1	2	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:210001493G>T	ENST00000491415.2	+	1	142	c.85G>T	c.(85-87)Gag>Tag	p.E29*		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	29					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGATTTCGGCGAGGAGCATCC	0.547											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhr.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(85-87)Gag>Tag		Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.							62	58	59					1																	210001493		2203	4300	6503	SO:0001587	stop_gained	27042				multicellular organismal development	nucleus		g.chr1:210001493G>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.85G>T	1.37:g.210001493G>T	ENSP00000419005:p.Glu29*		OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187	DIEXF_uc009xcu.2_5'UTR	p.E29*	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN			0	182	+			29					O75992|Q4VY00|Q63HL9	Nonsense_Mutation	SNP	ENST00000491415.2	37	c.85G>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993548	0.97987	.	.	ENSG00000117597	ENST00000491415	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-26.2334	18.407	0.90539	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000419005:E29X	E	+	1	0	DIEXF	208068116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.506000	0.73712	2.427000	0.82271	0.655000	0.94253	GAG		0.547	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		T	210001493	G	T	210001493	4	4	194	1	0	0	0	0	0	1	0	0	1981	1059	37	5	87	5	C1orf107	1	210001493	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	25	210001493	39249128	9	13680			1	39		2	2	26	G		5.249123e-05
PGBD2	267002	broad.mit.edu	37	chr1	249212387	249212387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgacacaacatctcaagGgaggcgaagcaggcggttgg	11	6	15	9	2	1	1	1	1	1	0	2	3	1	2	0	5	3	3	0	5	3	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212387G>A	ENST00000329291.5	+	3	1751	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	PGBD2_ENST00000539153.1_Missense_Mutation_p.G532E|PGBD2_ENST00000355360.4_Missense_Mutation_p.G284E	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	535										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACATCTCAAGGGAGGCGAAGC	0.547																																						uc001ifh.3																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1603-1605)gGg>gAg		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							91	88	89					1																	249212387		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212387G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1604G>A	1.37:g.249212387G>A	ENSP00000331643:p.Gly535Glu					PGBD2_uc001ifg.3_Missense_Mutation_p.G284E|PGBD2_uc009xhd.3_Missense_Mutation_p.G532E|PGBD2_uc021pmh.1_Missense_Mutation_p.G284E	p.G535E	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	1751	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	535					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1604G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	7.008	0.556249	0.13436	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.16073	2.37;2.52;2.52	3.05	2.09	0.27110	.	0.572041	0.15256	N	0.272022	T	0.25901	0.0631	L	0.50333	1.59	0.09310	N	1	D;P	0.89917	1.0;0.89	D;B	0.97110	1.0;0.42	T	0.09228	-1.0684	10	0.02654	T	1	.	7.8999	0.29729	0.0:0.256:0.744:0.0	.	532;535	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	E	284;535;532	ENSP00000355424:G284E;ENSP00000331643:G535E;ENSP00000439950:G532E	ENSP00000331643:G535E	G	+	2	0	PGBD2	247179010	1.000000	0.71417	0.007000	0.13788	0.003000	0.03518	3.764000	0.55264	0.793000	0.33875	0.467000	0.42956	GGG		0.547	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			A	249212387	G	A	249212387	3	1	194	1	0	0	0	0	1	0	0	0	11781	1232	43	3	1610	3	PGBD2	1	249212387	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	39210894	249212387	38234	10	13681											
PGBD2	267002	broad.mit.edu	37	chr1	249212544	249212544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccatgccaaatgcttcagGgagtaccacatccggtgaca	11	8	10	12	1	1	1	1	1	0	0	3	2	3	2	4	2	3	2	4	2	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212544G>T	ENST00000329291.5	+	3	1908	c.1761G>T	c.(1759-1761)agG>agT	p.R587S	PGBD2_ENST00000539153.1_Missense_Mutation_p.R584S|PGBD2_ENST00000355360.4_Missense_Mutation_p.R336S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	587										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AATGCTTCAGGGAGTACCACA	0.478																																						uc001ifh.3																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1759-1761)agG>agT		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							118	121	120					1																	249212544		2202	4299	6501	SO:0001583	missense	267002							g.chr1:249212544G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1761G>T	1.37:g.249212544G>T	ENSP00000331643:p.Arg587Ser					PGBD2_uc001ifg.3_Missense_Mutation_p.R336S|PGBD2_uc009xhd.3_Missense_Mutation_p.R584S|PGBD2_uc021pmh.1_Missense_Mutation_p.R336S	p.R587S	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	1908	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	587					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1761G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	5.807	0.333173	0.11013	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.83506	-1.73;-1.73;-1.73	3.22	1.26	0.21427	.	0.103999	0.35903	N	0.002904	T	0.66366	0.2782	L	0.29908	0.895	0.22629	N	0.998911	P;B	0.46512	0.879;0.008	B;B	0.42738	0.396;0.011	T	0.60505	-0.7250	10	0.07990	T	0.79	.	3.9299	0.09279	0.1284:0.0:0.6379:0.2338	.	584;587	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	336;587;584	ENSP00000355424:R336S;ENSP00000331643:R587S;ENSP00000439950:R584S	ENSP00000331643:R587S	R	+	3	2	PGBD2	247179167	1.000000	0.71417	0.289000	0.24876	0.028000	0.11728	1.253000	0.32886	0.347000	0.23924	-0.293000	0.09583	AGG		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			T	249212544	G	T	249212544	3	4	194	1	0	0	0	0	1	0	0	0	11781	1223	43	5	1767	5	PGBD2	1	249212544	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	157	249212544	38077	11	13682											
HK2	3099	broad.mit.edu	37	chr2	75081480	75081480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttggagatctctaagCggttccgcaaggagatggag	9	9	13	10	2	2	2	0	0	2	2	4	5	3	3	2	4	1	2	2	4	2	3	rs372666431		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:75081480C>T	ENST00000290573.2	+	2	724	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	HK2_ENST00000409174.1_Missense_Mutation_p.R14W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	42	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GATCTCTAAGCGGTTCCGCAA	0.527																																						uc002snd.3																			0		p.R42Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(124-126)Cgg>Tgg		Homo sapiens hexokinase 2 (HK2), mRNA.		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	188	194	192		124	4.2	1	2		192	0,8600		0,0,4300	no	missense	HK2	NM_000189.4	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	42/918	75081480	3,13003	2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081480C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.124C>T	2.37:g.75081480C>T	ENSP00000290573:p.Arg42Trp						p.R42W	NM_000189	NP_000180	P52789	HXK2_HUMAN			1	2050	+			42			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.124C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332190	0.81801	6.81E-4	0.0	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98455	-4.94;-4.94	5.13	4.23	0.50019	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99257	1.0889	10	0.87932	D	0	-22.0679	12.6536	0.56776	0.1662:0.8338:0.0:0.0	.	42	P52789	HXK2_HUMAN	W	42;42;14	ENSP00000290573:R42W;ENSP00000387140:R14W	ENSP00000290573:R42W	R	+	1	2	HK2	74934988	0.966000	0.33281	1.000000	0.80357	0.951000	0.60555	2.272000	0.43373	1.347000	0.45714	0.561000	0.74099	CGG		0.527	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75081480	C	T	75081480	3	4	194	1	0	0	0	0	1	0	0	0	7191	759	27	1	130	1	HK2	2	75081480	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		75081480	168117893	12	13683											
UGGT1	56886	broad.mit.edu	37	chr2	128944331	128944331	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctttggtgtgaaacgtgGtgtgatgacgcctctaagaa	9	12	14	6	2	1	4	0	3	1	1	1	4	1	4	1	3	1	1	1	3	3	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:128944331G>A	ENST00000259253.6	+	39	4481	c.4434G>A	c.(4432-4434)tgG>tgA	p.W1478*	UGGT1_ENST00000375990.3_Nonsense_Mutation_p.W1454*	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1478	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGAAACGTGGTGTGATGACG	0.413																																						uc002tps.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4432-4434)tgG>tgA		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.							244	199	215					2																	128944331		2203	4300	6503	SO:0001587	stop_gained	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128944331G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4434G>A	2.37:g.128944331G>A	ENSP00000259253:p.Trp1478*					UGGT1_uc002tpr.3_Nonsense_Mutation_p.W1454*	p.W1478*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			38	4612	+			1478			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Nonsense_Mutation	SNP	ENST00000259253.6	37	c.4434G>A	CCDS2154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.716658|5.716658	0.96830|0.96830	.|.	.|.	ENSG00000136731|ENSG00000136731	ENST00000418197|ENST00000375990;ENST00000259253	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.80581|.	0.4650|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77159|.	-0.2690|.	3|.	.|.	.|.	.|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	54|1454;1478	.|.	.|.	V|W	+|+	1|3	0|0	UGGT1|UGGT1	128660801|128660801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.341000|9.341000	0.97041|0.97041	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GTG|TGG		0.413	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128944331	G	A	128944331	4	1	194	1	0	0	0	0	0	1	0	0	16938	1270	44	3	4588	3	UGGT1	2	128944331	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	53862851	128944331	114255042	13	13684											
TTN	7273	broad.mit.edu	37	chr2	179571370	179571370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggtggatgaaaacaCgacctccttggttcagctgt	8	14	10	9	1	1	1	1	1	0	0	2	3	2	2	2	3	2	2	2	3	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:179571370C>T	ENST00000591111.1	-	100	28504	c.28280G>A	c.(28279-28281)cGt>cAt	p.R9427H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R9744H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R8500H|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13523	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGAAAACACGACCTCCTTG	0.443																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25498-25500)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							161	158	159					2																	179571370		1895	4124	6019	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571370C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28280G>A	2.37:g.179571370C>T	ENSP00000465570:p.Arg9427His					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H	p.R8500H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	25724	-			9427			Ig-like 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25499G>A		.	.	.	.	.	.	.	.	.	.	C	16.05	3.013222	0.54468	.	.	ENSG00000155657	ENST00000342992	T	0.52057	0.68	6.1	6.1	0.99115	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67748	0.2926	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66650	-0.5870	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	9427	Q8WZ42	TITIN_HUMAN	H	8500	ENSP00000343764:R8500H	ENSP00000343764:R8500H	R	-	2	0	TTN	179279615	1.000000	0.71417	0.964000	0.40570	0.368000	0.29767	7.818000	0.86416	2.902000	0.99343	0.650000	0.86243	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179571370	C	T	179571370	3	4	194	1	0	0	0	0	1	0	0	0	16732	536	19	1	75342	1	TTN	2	179571370	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	50627039	179571370	63628003	14	13685											
AQP12B	653437	broad.mit.edu	37	chr2	241621969	241621969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaactcctgcagggacaCggtggggttggccgaggccc	7	5	18	11	2	0	0	0	0	0	0	1	4	1	2	3	7	2	2	3	7	1	1	rs545420469		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:241621969C>T	ENST00000407834.3	-	1	348	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	84						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGCAGGGACACGGTGGGGTTG	0.687													N|||	1	0.000199681	0	0.0014	5008	,	,		19056	0		0	False		,,,				2504	0					uc010fzj.3																			0		p.V96V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13						c.(286-288)Gtg>Atg		Homo sapiens aquaporin 12B (AQP12B), mRNA.							51	51	51					2																	241621969		2203	4300	6503	SO:0001583	missense	653437					integral to membrane	transporter activity	g.chr2:241621969C>T	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.286G>A	2.37:g.241621969C>T	ENSP00000384894:p.Val96Met					AQP12B_uc002vzt.3_Intron	p.V96M	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	0	349	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	84					A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	c.286G>A	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.384823	0.42308	.	.	ENSG00000185176	ENST00000407834	T	0.17213	2.29	2.63	2.63	0.31362	.	0.224078	0.37393	N	0.002113	T	0.38026	0.1025	M	0.77103	2.36	0.29746	N	0.836738	D	0.89917	1.0	D	0.68943	0.961	T	0.22103	-1.0226	9	.	.	.	-0.1684	11.4255	0.50007	0.0:1.0:0.0:0.0	.	96	A6NM10-2	.	M	96	ENSP00000384894:V96M	.	V	-	1	0	AQP12B	241270642	0.816000	0.29132	0.484000	0.27391	0.839000	0.47603	1.390000	0.34464	1.782000	0.52362	0.479000	0.44913	GTG		0.687	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			T	241621969	C	T	241621969	3	4	194	1	0	0	0	0	1	0	0	0	825	536	19	1	649	1	AQP12B	2	241621969	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	62050599	241621969	1577404	15	13686											
DCLK3	85443	broad.mit.edu	37	chr3	36779774	36779774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtcttttcaatctccaccCcaagatgcttctctcccctt	7	14	4	16	0	4	1	1	0	3	1	7	1	5	1	5	1	1	1	5	1	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:36779774C>T	ENST00000416516.2	-	2	867	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G126E(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCTCCACCCCAAGATGCTT	0.567																																						uc003cgi.2																			1	Substitution - Missense(1)	p.G126E(2)	lung(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(376-378)gGg>gAg		Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.							148	148	148					3																	36779774		1883	4105	5988	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779774C>T	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.377G>A	3.37:g.36779774C>T	ENSP00000394484:p.Gly126Glu						p.G126E	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			1	868	-			126						Missense_Mutation	SNP	ENST00000416516.2	37	c.377G>A	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	3.399	-0.122724	0.06795	.	.	ENSG00000163673	ENST00000416516	T	0.64803	-0.12	4.7	2.76	0.32466	.	0.000000	0.33346	N	0.005003	T	0.42291	0.1196	L	0.32530	0.975	0.09310	N	1	B	0.27882	0.192	B	0.21151	0.033	T	0.13575	-1.0504	10	0.19147	T	0.46	.	6.2865	0.21037	0.0:0.5286:0.346:0.1254	.	126	Q9C098	DCLK3_HUMAN	E	126	ENSP00000394484:G126E	ENSP00000394484:G126E	G	-	2	0	DCLK3	36754778	0.120000	0.22244	0.936000	0.37596	0.680000	0.39746	0.990000	0.29642	1.104000	0.41587	0.655000	0.94253	GGG		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		T	36779774	C	T	36779774	3	4	194	1	0	0	0	0	1	0	0	0	4293	623	22	3	1585	3	DCLK3	3	36779774	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		36779774	161242656	16	13687											
SLC6A20	54716	broad.mit.edu	37	chr3	45801400	45801400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgtgaggatgtagtcGctcaggtagaagacaaagag	12	7	14	8	2	1	4	1	1	0	3	3	5	2	5	2	2	0	3	2	2	4	2	rs143985135	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:45801400G>A	ENST00000358525.4	-	10	1693	c.1578C>T	c.(1576-1578)agC>agT	p.S526S	SLC6A20_ENST00000456124.2_Silent_p.S526S|SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000353278.4_Silent_p.S489S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	526					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S526S(1)|p.S489S(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGATGTAGTCGCTCAGGTAGA	0.592													G|||	2	0.000399361	0.0015	0	5008	,	,		17976	0		0	False		,,,				2504	0					uc011bai.2																			2	Substitution - coding silent(2)	p.S526S(1)|p.S489S(1)	large_intestine(2)	breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1576-1578)agC>agT		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	121	119	119		1578,1467	-12	0.7	3	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	526/593,489/556	45801400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45801400G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1578C>T	3.37:g.45801400G>A						SLC6A20_uc003cow.3_Silent_p.S176S|SLC6A20_uc011baj.2_Silent_p.S489S	p.S526S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	9	1702	-			526					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1578C>T	CCDS43077.1																																																																																				0.592	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		A	45801400	G	A	45801400	2	1	194	1	0	0	0	0	0	0	0	1	14684	1078	38	1		1	SLC6A20	3	45801400	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08	9021626	45801400	152221030	17	13688											
NIT2	56954	broad.mit.edu	37	chr3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgttctcagctttcCgcttggccctcatccagctt	3	17	7	14	1	3	0	2	0	2	0	6	0	5	0	3	1	2	4	3	1	0	5	rs183950946	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:100057936C>T	ENST00000394140.4	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	5	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													C|||	2	0.000399361	0	0.0029	5008	,	,		24193	0		0	False		,,,				2504	0					uc003dtv.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(13-15)Cgc>Tgc		Homo sapiens nitrilase family, member 2 (NIT2), mRNA.							143	142	142					3																	100057936		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100057936C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.13C>T	3.37:g.100057936C>T	ENSP00000377696:p.Arg5Cys					NIT2_uc011bha.1_Missense_Mutation_p.R5C	p.R5C	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN			1	87	+			5			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.13C>T	CCDS33806.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	21.8|21.8	4.199522|4.199522	0.79015|0.79015	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000497785|ENST00000394140	.|D	.|0.88354	.|-2.37	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95484|0.95484	0.8533|0.8533	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.958;0.991	D|D	0.96030|0.96030	0.9016|0.9016	5|10	.|0.87932	.|D	.|0	-5.125|-5.125	19.112|19.112	0.93319|0.93319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5;5	.|B7Z3F9;Q9NQR4	.|.;NIT2_HUMAN	L|C	98|5	.|ENSP00000377696:R5C	.|ENSP00000377696:R5C	P|R	+|+	2|1	0|0	NIT2|NIT2	101540626|101540626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.588000|0.588000	0.36517|0.36517	4.984000|4.984000	0.63838|0.63838	2.594000|2.594000	0.87642|0.87642	0.484000|0.484000	0.47621|0.47621	CCG|CGC		0.473	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		T	100057936	C	T	100057936	3	4	194	1	0	0	0	0	1	0	0	0	10434	652	23	2	19	2	NIT2	3	100057936	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	54256536	100057936	97964494	18	13689											
DLG1	1739	broad.mit.edu	37	chr3	196921382	196921382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgagacatgaaccaattCtggacctatcacttcatttg	11	13	6	11	0	4	2	2	2	2	1	4	4	4	3	2	1	1	0	2	1	3	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:196921382C>G	ENST00000419354.1	-	5	683	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	DLG1_ENST00000357674.4_Missense_Mutation_p.E133Q|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Missense_Mutation_p.E133Q|DLG1_ENST00000450955.1_Missense_Mutation_p.E133Q|DLG1_ENST00000448528.2_Missense_Mutation_p.E133Q|DLG1_ENST00000314062.3_Missense_Mutation_p.E133Q|DLG1_ENST00000346964.2_Missense_Mutation_p.E133Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E133Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	133					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACCAATTCTGGACCTATC	0.353																																						uc010ial.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(397-399)Gaa>Caa		Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.							144	140	141					3																	196921382		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921382C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.397G>C	3.37:g.196921382C>G	ENSP00000407531:p.Glu133Gln					DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.E133Q|DLG1_uc003fxn.4_Missense_Mutation_p.E133Q|DLG1_uc011bue.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.E133Q	p.E133Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	4	656	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	133					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.397G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282682	0.59867	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.67	5.67	0.87782	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.72118	2.19	0.58432	D	0.999999	D;D;B;D	0.89917	1.0;1.0;0.277;1.0	D;D;B;D	0.91635	0.997;0.999;0.114;0.999	T	0.68021	-0.5519	10	0.31617	T	0.26	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	133;133;133;133	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	Q	133;133;133;133;133;133;133;133;133;133;37;133;133;133	ENSP00000345731:E133Q;ENSP00000350303:E133Q;ENSP00000321087:E133Q;ENSP00000407531:E133Q;ENSP00000413238:E133Q;ENSP00000391732:E133Q;ENSP00000376187:E133Q;ENSP00000411278:E133Q;ENSP00000412579:E37Q;ENSP00000396474:E133Q;ENSP00000376185:E133Q;ENSP00000414189:E133Q	ENSP00000321087:E133Q	E	-	1	0	DLG1	198405779	1.000000	0.71417	0.131000	0.22000	0.008000	0.06430	7.469000	0.80959	2.680000	0.91292	0.655000	0.94253	GAA		0.353	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		G	196921382	C	G	196921382	3	3	194	1	0	0	0	0	1	0	0	0	4554	922	32	5	2509	5	DLG1	3	196921382	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	96863446	196921382	1101048	19	13690											
SLIT2	9353	broad.mit.edu	37	chr4	20543202	20543202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcctgaaagaaataccCatccaggatgtggccattca	13	10	7	11	0	1	2	1	1	0	1	3	3	3	3	4	2	2	0	4	2	4	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:20543202C>T	ENST00000504154.1	+	20	2355	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	SLIT2_ENST00000503837.1_Silent_p.P697P|SLIT2_ENST00000273739.5_Silent_p.P705P|SLIT2_ENST00000503823.1_Silent_p.P693P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	701	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATACCCATCCAGGATG	0.443																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2101-2103)ccC>ccT		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							107	99	102					4																	20543202		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543202C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2103C>T	4.37:g.20543202C>T						SLIT2_uc003gps.1_Silent_p.P693P	p.P701P	NM_004787	NP_004778	O94813	SLIT2_HUMAN			19	2307	+			701			LRRCT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2103C>T	CCDS3426.1																																																																																				0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			T	20543202	C	T	20543202	2	4	194	1	0	0	0	0	0	0	0	1	14740	581	21	3		3	SLIT2	4	20543202	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		20543202	170611074	20	13691											
N4BP2	55728	broad.mit.edu	37	chr4	40119548	40119548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgttggaacattatcaacGttttgtttcagtgccaataa	13	15	7	6	1	2	0	2	0	0	0	2	1	2	1	1	1	3	3	1	1	6	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:40119548G>A	ENST00000261435.6	+	8	2140	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	575					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CATTATCAACGTTTTGTTTCA	0.363																																						uc003guy.4																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1723-1725)cGt>cAt		Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.							121	112	115					4																	40119548		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40119548G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1724G>A	4.37:g.40119548G>A	ENSP00000261435:p.Arg575His					N4BP2_uc010ifq.3_Missense_Mutation_p.R495H|N4BP2_uc010ifr.3_Missense_Mutation_p.R495H	p.R575H	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			7	2062	+			575					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1724G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993298	0.74703	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.47869	0.83	5.44	5.44	0.79542	.	0.362503	0.32015	N	0.006712	T	0.51041	0.1651	N	0.16790	0.44	0.52501	D	0.999958	D;D	0.76494	0.998;0.999	P;D	0.70227	0.9;0.968	T	0.51988	-0.8635	10	0.44086	T	0.13	-12.2842	13.5697	0.61838	0.0767:0.0:0.9233:0.0	.	575;575	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	H	575;495	ENSP00000261435:R575H	ENSP00000261435:R575H	R	+	2	0	N4BP2	39795943	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.162000	0.50755	2.558000	0.86282	0.655000	0.94253	CGT		0.363	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		A	40119548	G	A	40119548	3	1	194	1	0	0	0	0	1	0	0	0	10110	1145	40	1	1746	1	N4BP2	4	40119548	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	19576346	40119548	151034728	21	13692											
PCDH10	57575	broad.mit.edu	37	chr4	134084209	134084209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggatgccttcttttGtcccttctgatggacgccag	4	14	12	11	1	2	1	0	1	2	0	3	3	3	3	3	3	2	1	3	3	0	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:134084209G>T	ENST00000264360.5	+	4	3701	c.2875G>T	c.(2875-2877)Gtc>Ttc	p.V959F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	959					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCTTCTTTTGTCCCTTCTGA	0.488																																						uc003iha.3																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2875-2877)Gtc>Ttc		Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.							176	148	157					4																	134084209		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084209G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2875G>T	4.37:g.134084209G>T	ENSP00000264360:p.Val959Phe						p.V959F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	3	3701	+			959					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2875G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017467	0.54576	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55588	0.51	5.24	4.4	0.53042	.	0.000000	0.35772	N	0.002983	T	0.46073	0.1374	L	0.27053	0.805	0.50632	D	0.999887	D	0.53619	0.961	P	0.47206	0.541	T	0.48980	-0.8986	10	0.54805	T	0.06	.	13.4837	0.61353	0.076:0.0:0.924:0.0	.	959	Q9P2E7	PCD10_HUMAN	F	959	ENSP00000264360:V959F	ENSP00000264360:V959F	V	+	1	0	PCDH10	134303659	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.301000	0.59086	1.424000	0.47217	0.650000	0.86243	GTC		0.488	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		T	134084209	G	T	134084209	3	4	194	1	0	0	0	0	1	0	0	0	11507	1377	48	5	2949	5	PCDH10	4	134084209	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	93964661	134084209	57070067	22	13693											
DCLK2	166614	broad.mit.edu	37	chr4	151170830	151170830	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaccaccggggtctccgtCatcatggtgagtggaaggcg	8	8	14	11	3	3	1	2	1	1	0	4	2	3	2	3	5	1	0	3	5	2	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:151170830C>G	ENST00000296550.7	+	15	2821	c.2067C>G	c.(2065-2067)gtC>gtG	p.V689V	DCLK2_ENST00000506325.1_Silent_p.V688V|DCLK2_ENST00000302176.8_Silent_p.V706V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	689					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGGTCTCCGTCATCATGGTGA	0.532																																					GBM(195;186 2215 13375 16801 37459)	uc003ilo.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(2116-2118)gtC>gtG		Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.							101	94	96					4																	151170830		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151170830C>G	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.2067C>G	4.37:g.151170830C>G						DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.V689V|DCLK2_uc003iln.4_Silent_p.V688V	p.V706V	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN			15	2872	+	all_hematologic(180;0.151)		689					C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.2118C>G	CCDS34076.1																																																																																				0.532	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		G	151170830	C	G	151170830	2	3	194	1	0	0	0	0	0	0	0	1	4292	813	29	5		5	DCLK2	4	151170830	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08	17086621	151170830	39983446	23	13694											
AP3S1	1176	broad.mit.edu	37	chr5	115177778	115177778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaaccacgggaagccgcGgctctccaagttctaccagc	11	5	9	16	3	2	0	0	0	2	0	3	1	2	1	4	2	5	2	4	2	5	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:115177778G>A	ENST00000316788.7	+	1	601	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000500945.2_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	15					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		GGGAAGCCGCGGCTCTCCAAG	0.692																																						uc003krl.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(43-45)cGg>cAg		Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.							13	14	14					5																	115177778		2202	4297	6499	SO:0001583	missense	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115177778G>A	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.44G>A	5.37:g.115177778G>A	ENSP00000325369:p.Arg15Gln					AP3S1_uc003krk.3_5'UTR|ATG12_uc021ycr.1_5'Flank|ATG12_uc021ycs.1_5'Flank|ATG12_uc003krh.3_5'Flank|ATG12_uc003kri.3_5'Flank	p.R15Q	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	0	160	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	15					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	c.44G>A	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597076	0.87055	.	.	ENSG00000177879	ENST00000316788	T	0.61627	0.09	5.06	4.19	0.49359	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	H	0.96365	3.81	0.41053	D	0.985318	P;P	0.47191	0.891;0.891	P;P	0.45971	0.499;0.499	T	0.82192	-0.0579	10	0.66056	D	0.02	-0.9466	12.9054	0.58149	0.0814:0.0:0.9186:0.0	.	15;15	B2R4I8;Q92572	.;AP3S1_HUMAN	Q	15	ENSP00000325369:R15Q	ENSP00000325369:R15Q	R	+	2	0	AP3S1	115205677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.311000	0.65786	1.258000	0.44101	0.650000	0.86243	CGG		0.692	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			A	115177778	G	A	115177778	3	1	194	1	0	0	0	0	1	0	0	0	749	1116	39	2	46	2	AP3S1	5	115177778	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		115177778	65737482	24	13695											
DOCK2	1794	broad.mit.edu	37	chr5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattagcatcacccaagaCgccgagagtggagcaggagg	13	4	15	9	2	1	2	1	0	0	2	1	6	1	5	2	4	2	2	2	4	3	1	rs201322810		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:169506008C>T	ENST00000256935.8	+	49	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M|DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1675					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCCAAGACGCCGAGAGTG	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		19088	0		0	False		,,,				2504	0					uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5023-5025)aCg>aTg		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103	110	108		5024	4.1	0	5		108	0,8600		0,0,4300	yes	missense	DOCK2	NM_004946.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1675/1831	169506008	1,13005	2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506008C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5024C>T	5.37:g.169506008C>T	ENSP00000256935:p.Thr1675Met					DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T1167M|DOCK2_uc003mah.3_Missense_Mutation_p.T231M	p.T1675M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		48	5104	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1675					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5024C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213024	0.39102	2.27E-4	0.0	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08546	3.73;3.37;3.08	4.92	4.05	0.47172	.	0.536026	0.18828	N	0.130075	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	0.999998	P;P;B	0.50156	0.661;0.932;0.349	B;B;B	0.38712	0.115;0.28;0.072	T	0.24835	-1.0149	10	0.51188	T	0.08	.	13.8967	0.63775	0.1538:0.8462:0.0:0.0	.	1167;231;1675	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1675;1167;736	ENSP00000256935:T1675M;ENSP00000429283:T1167M;ENSP00000438827:T736M	ENSP00000256935:T1675M	T	+	2	0	DOCK2	169438586	0.069000	0.21087	0.008000	0.14137	0.128000	0.20619	1.306000	0.33505	1.195000	0.43115	0.650000	0.86243	ACG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169506008	C	T	169506008	3	4	194	1	0	0	0	0	1	0	0	0	4687	536	19	1	5218	1	DOCK2	5	169506008	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	54328230	169506008	11409252	25	13696											
WDR27	253769	broad.mit.edu	37	chr6	170036474	170036474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgcctacctcttaaTctcatctttgcaagtgtcaa	8	13	10	10	0	4	0	2	0	3	0	5	0	4	0	2	3	3	1	2	3	4	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr6:170036474T>C	ENST00000448612.1	-	19	2105	c.1996A>G	c.(1996-1998)Att>Gtt	p.I666V	WDR27_ENST00000333572.6_Missense_Mutation_p.I666V|WDR27_ENST00000423258.1_Missense_Mutation_p.I539V|WDR27_ENST00000546525.1_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	636						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TACCTCTTAATCTCATCTTTG	0.378																																						uc003qwx.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(1996-1998)Att>Gtt		Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.							60	64	62					6																	170036474		1849	4092	5941	SO:0001583	missense	253769							g.chr6:170036474T>C	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1996A>G	6.37:g.170036474T>C	ENSP00000416289:p.Ile666Val					WDR27_uc003qwv.2_Intron|WDR27_uc021zio.1_Missense_Mutation_p.I666V|WDR27_uc003qwy.3_Missense_Mutation_p.I539V	p.I666V	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	18	2516	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	636					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1996A>G	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	T	4.460	0.085244	0.08583	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.23950	2.0;2.22;1.88	4.98	-5.32	0.02722	.	0.459682	0.19553	N	0.111530	T	0.02533	0.0077	N	0.20807	0.61	0.09310	N	0.999998	B;B;B	0.13594	0.002;0.008;0.007	B;B;B	0.12156	0.002;0.007;0.007	T	0.40346	-0.9568	10	0.11182	T	0.66	-0.0624	3.6832	0.08319	0.2953:0.0706:0.4435:0.1905	.	666;539;666	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	V	666;666;539	ENSP00000416289:I666V;ENSP00000330265:I666V;ENSP00000397869:I539V	ENSP00000330265:I666V	I	-	1	0	WDR27	169778399	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.367000	0.02583	-1.299000	0.02344	0.467000	0.42956	ATT		0.378	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		C	170036474	T	C	170036474	3	2	194	1	0	0	0	0	1	0	0	0	17281	1435	50	4	605	4	WDR27	6	170036474	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		170036474	1078593	26	13697											
FAM126A	84668	broad.mit.edu	37	chr7	23023600	23023600	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataactttatagagagatGaaactaaagaactcttgtct	16	12	8	5	0	2	4	0	1	2	3	2	6	2	5	0	1	3	0	0	1	7	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:23023600G>T	ENST00000432176.2	-	3	348	c.116C>A	c.(115-117)tCa>tAa	p.S39*	FAM126A_ENST00000409923.1_Nonsense_Mutation_p.S39*|FAM126A_ENST00000409763.1_Nonsense_Mutation_p.S39*	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	39					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATAGAGAGATGAAACTAAAGA	0.269																																						uc003svm.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(115-117)tCa>tAa		Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.							76	82	80					7																	23023600		2203	4296	6499	SO:0001587	stop_gained	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23023600G>T	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.116C>A	7.37:g.23023600G>T	ENSP00000403396:p.Ser39*					FAM126A_uc003svn.4_5'UTR|FAM126A_uc011jyr.1_Intron	p.S39*	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			2	371	-			39					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	ENST00000432176.2	37	c.116C>A	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.116769|5.116769	0.94385|0.94385	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000440481|ENST00000432176;ENST00000409923;ENST00000409763	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.173476	.|0.53938	.|D	.|0.000060	T|.	0.54095|.	0.1837|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41360|.	-0.9513|.	4|.	.|0.07175	.|T	.|0.84	0.6298|0.6298	20.2885|20.2885	0.98538|0.98538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	91|39	.|.	.|ENSP00000386624:S39X	H|S	-|-	1|2	0|0	FAM126A|FAM126A	22990125|22990125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.540000|7.540000	0.82074|0.82074	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.269	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		T	23023600	G	T	23023600	4	4	194	1	0	0	0	0	0	1	0	0	5429	1294	45	5	1485	5	FAM126A	7	23023600	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		23023600	136115063	27	13698											
MUC17	140453	broad.mit.edu	37	chr7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtggccagttctgaggctgGcaccctttcaacaactcctg	8	10	10	13	0	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:100683180G>A	ENST00000306151.4	+	3	8547	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2828	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACCCTTTCA	0.498																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8482-8484)gGc>gAc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							242	250	247					7																	100683180		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683180G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8483G>A	7.37:g.100683180G>A	ENSP00000302716:p.Gly2828Asp					MUC17_uc010lho.1_Non-coding_Transcript	p.G2828D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	8536	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2828			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8483G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203649	0.09704	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	0.911	-0.0885	0.13673	.	.	.	.	.	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.42515	-0.9447	9	0.27082	T	0.32	.	3.9399	0.09323	0.4823:0.0:0.5177:0.0	.	2828	Q685J3	MUC17_HUMAN	D	2828	ENSP00000302716:G2828D	ENSP00000302716:G2828D	G	+	2	0	MUC17	100469900	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.278000	0.08490	-0.037000	0.13646	0.134000	0.15878	GGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100683180	G	A	100683180	3	1	194	1	0	0	0	0	1	0	0	0	9974	1203	42	3	8493	3	MUC17	7	100683180	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	77659580	100683180	58455483	28	13699											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140317	68140317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacattcttgggtgtgtcgTggaaagtaattcatccatag	12	13	10	6	1	2	0	1	0	1	0	4	1	3	1	1	2	1	1	1	2	4	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:68140317T>C	ENST00000262215.3	-	25	3861	c.3472A>G	c.(3472-3474)Acg>Gcg	p.T1158A	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T612A|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1158					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGTGTGTCGTGGAAAGTAAT	0.318																																						uc003xxo.2																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3472-3474)Acg>Gcg		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.							96	94	95					8																	68140317		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68140317T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3472A>G	8.37:g.68140317T>C	ENSP00000262215:p.Thr1158Ala					ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.2_Missense_Mutation_p.T141A	p.T1158A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		24	3862	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1158					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3472A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.713377	0.30413	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000517631	T;T	0.51574	0.7;0.7	5.06	5.06	0.68205	Armadillo-type fold (1);	0.171940	0.52532	D	0.000072	T	0.18257	0.0438	N	0.01729	-0.75	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.09314	-1.0680	10	0.29301	T	0.29	.	4.2511	0.10695	0.0:0.1276:0.2022:0.6702	.	1158;636;612	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	A	612;1158;7	ENSP00000428429:T612A;ENSP00000262215:T1158A	ENSP00000262215:T1158A	T	-	1	0	ARFGEF1	68302871	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.485000	0.53208	1.892000	0.54788	0.528000	0.53228	ACG		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68140317	T	C	68140317	3	2	194	1	0	0	0	0	1	0	0	0	852	1696	59	4	2137	4	ARFGEF1	8	68140317	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		68140317	78223705	29	13700											
SLC39A4	55630	broad.mit.edu	37	chr8	145642115	145642115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcggggacgccgtcGccgtcaccaccagcacagcc	8	2	13	18	5	1	0	1	0	0	0	2	1	1	1	5	3	3	2	5	3	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:145642115G>A	ENST00000301305.3	-	1	164	c.59C>T	c.(58-60)gCg>gTg	p.A20V	SLC39A4_ENST00000276833.5_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	20					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGACGCCGTCGCCGTCACCAC	0.662																																						uc003zcq.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(58-60)gCg>gTg		Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.							46	44	45					8																	145642115		2191	4298	6489	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145642115G>A	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.59C>T	8.37:g.145642115G>A	ENSP00000301305:p.Ala20Val					SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_5'Flank	p.A20V	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		0	159	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		20					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.59C>T	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	A	8.264	0.811862	0.16537	.	.	ENSG00000147804	ENST00000301305;ENST00000526658	T;T	0.58210	0.35;0.38	4.76	-9.51	0.00581	.	2.351530	0.02272	N	0.068512	T	0.30854	0.0778	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.36615	T	0.2	0.683	4.0987	0.10004	0.1093:0.2972:0.4492:0.1443	.	20	Q6P5W5	S39A4_HUMAN	V	20	ENSP00000301305:A20V;ENSP00000434512:A20V	ENSP00000301305:A20V	A	-	2	0	SLC39A4	145612923	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-5.531000	0.00115	-4.419000	0.00050	-3.386000	0.00040	GCG		0.662	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			A	145642115	G	A	145642115	3	1	194	1	0	0	0	0	1	0	0	0	14620	1087	38	1	2049	1	SLC39A4	8	145642115	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	77501798	145642115	721907	30	13701											
WASH1	0	broad.mit.edu	37	chr9	17147	17147	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggcccaggtctggcacaTagaagtagttctctgggacc	8	9	12	12	0	2	1	0	0	2	1	3	2	2	2	3	4	0	3	3	4	3	3	rs200541029		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:17147T>C								None (None upstream) : MIR1302-2 (10509 downstream)																							GTCTGGCACATAGAAGTAGTT	0.587																																						uc010mgm.1																			0											c.(700-702)tAt>tGt		Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.							27	38	35					9																	17147		647	1817	2464	SO:0001628	intergenic_variant	375690				Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding	g.chr9:17147T>C																													9.37:g.17147T>C						WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Missense_Mutation_p.Y247C	p.Y234C	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	6	844	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	234						Missense_Mutation	SNP		37	c.701A>G																																																																																				0	0.587									C	17147	T	C	17147	1	2	194	0	1	0	0	0	0	0	0	0	17252	1406	49	4		4	WASH1	9	17147	IGR	SNP	T	TCGA-27-2523-01A-01D-1494-08		17147	141196284	31	13702											
PAPPA	5069	broad.mit.edu	37	chr9	118997909	118997909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatctcaataggaaattcGtagacatgtaagtgcattct	14	13	7	7	1	2	1	1	0	2	1	4	2	2	2	0	1	2	3	0	1	6	6	rs199874720		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:118997909G>A	ENST00000328252.3	+	7	3094	c.2725G>A	c.(2725-2727)Gta>Ata	p.V909I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	909					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGGAAATTCGTAGACATGTA	0.517																																						uc004bjn.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2725-2727)Gta>Ata		Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.							101	101	101					9																	118997909		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118997909G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2725G>A	9.37:g.118997909G>A	ENSP00000330658:p.Val909Ile					PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.2_Intron	p.V909I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			6	3106	+			909					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2725G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	1.737	-0.492791	0.04322	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.41400	1.0	6.03	-5.66	0.02451	.	0.966212	0.08696	N	0.907154	T	0.17280	0.0415	N	0.03324	-0.35	0.19775	N	0.99996	B;B	0.14012	0.009;0.005	B;B	0.11329	0.006;0.002	T	0.32375	-0.9909	10	0.21540	T	0.41	0.6245	11.5935	0.50959	0.4382:0.0869:0.4749:0.0	.	353;909	E7EMD3;Q13219	.;PAPP1_HUMAN	I	909;353	ENSP00000330658:V909I	ENSP00000330658:V909I	V	+	1	0	PAPPA	118037730	0.000000	0.05858	0.037000	0.18230	0.031000	0.12232	-0.183000	0.09712	-0.765000	0.04645	-0.907000	0.02831	GTA		0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	118997909	G	A	118997909	3	1	194	1	0	0	0	0	1	0	0	0	11432	1145	40	1	2751	1	PAPPA	9	118997909	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	118980762	118997909	22215522	32	13703											
LAMC3	10319	broad.mit.edu	37	chr9	133907535	133907535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccagtcctactattatgCcgtgtccgacttctctgtgg	5	14	9	13	2	1	0	0	0	1	0	5	1	4	0	4	1	2	1	4	1	3	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:133907535C>T	ENST00000361069.4	+	3	915	c.782C>T	c.(781-783)gCc>gTc	p.A261V	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	261	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TACTATTATGCCGTGTCCGAC	0.612																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(781-783)gCc>gTc		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							132	126	128					9																	133907535		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133907535C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.782C>T	9.37:g.133907535C>T	ENSP00000354360:p.Ala261Val						p.A261V	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	2	880	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	261			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.782C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747884	0.89663	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.80033	-1.33	5.18	5.18	0.71444	Laminin, N-terminal (3);	0.055269	0.64402	D	0.000001	D	0.92935	0.7752	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94957	0.8105	10	0.87932	D	0	.	17.6836	0.88250	0.0:1.0:0.0:0.0	.	261	Q9Y6N6	LAMC3_HUMAN	V	261	ENSP00000354360:A261V	ENSP00000325873:A261V	A	+	2	0	LAMC3	132897356	1.000000	0.71417	0.982000	0.44146	0.841000	0.47740	5.984000	0.70548	2.426000	0.82243	0.563000	0.77884	GCC		0.612	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133907535	C	T	133907535	3	4	194	1	0	0	0	0	1	0	0	0	8616	739	26	3	792	3	LAMC3	9	133907535	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	14909626	133907535	7305896	33	13704											
LBX1	10660	broad.mit.edu	37	chr10	102987489	102987489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggtgaaggccgtgcgCgactttcgccgcttcttagg	4	12	15	10	5	1	1	0	1	1	0	2	2	1	1	2	4	1	2	2	4	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr10:102987489C>T	ENST00000370193.2	-	2	1362	c.384G>A	c.(382-384)tcG>tcA	p.S128S	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	128					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGCCGTGCGCGACTTTCGCC	0.587																																						uc001ksx.3																			0				large_intestine(2)|lung(4)|ovary(1)	7						c.(382-384)tcG>tcA		Homo sapiens ladybird homeobox 1 (LBX1), mRNA.							45	46	46					10																	102987489		2201	4296	6497	SO:0001819	synonymous_variant	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102987489C>T	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"Homeoboxes / ANTP class : NKL subclass"	16960	protein-coding gene	gene with protein product		604255	"ladybird homeobox homolog 1 (Drosophila)"			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.384G>A	10.37:g.102987489C>T						FLJ41350_uc010qpy.2_5'Flank	p.S128S	NM_006562	NP_006553	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	1	529	-		Colorectal(252;0.234)	128					B9EGA2|Q05BB2	Silent	SNP	ENST00000370193.2	37	c.384G>A	CCDS31270.1																																																																																				0.587	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		T	102987489	C	T	102987489	2	4	194	1	0	0	0	0	0	0	0	1	8653	755	27	1		1	LBX1	10	102987489	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		102987489	32547258	34	13705											
OR52B2	255725	broad.mit.edu	37	chr11	6190634	6190634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttgatgtcaaagaacCggtgggctacaccctcacgt	11	9	10	11	2	3	2	2	1	1	1	3	2	3	2	2	2	2	1	2	2	4	2	rs147668114	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:6190634C>T	ENST00000530810.1	-	1	1004	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R308Q(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAAAGAACCGGTGGGCTAC	0.478																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.2																			2	Substitution - Missense(2)	p.R308Q(3)|p.R308R(1)	central_nervous_system(2)	NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(922-924)cGg>cAg		Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.							69	68	68					11																	6190634		1923	4131	6054	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190634C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"GPCR / Class A : Olfactory receptors"	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.923G>A	11.37:g.6190634C>T	ENSP00000432011:p.Arg308Gln						p.R308Q	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	923	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	308					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.923G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426869	0.62733	.	.	ENSG00000255307	ENST00000530810	T	0.37411	1.2	4.86	2.82	0.32997	.	.	.	.	.	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13019	-1.0525	9	0.66056	D	0.02	.	5.6953	0.17853	0.2413:0.6578:0.0:0.1009	.	308	Q96RD2	O52B2_HUMAN	Q	308	ENSP00000432011:R308Q	ENSP00000432011:R308Q	R	-	2	0	OR52B2	6147210	0.100000	0.21855	0.320000	0.25306	0.868000	0.49771	0.878000	0.28126	1.295000	0.44724	0.440000	0.28878	CGG		0.478	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		T	6190634	C	T	6190634	3	4	194	1	0	0	0	0	1	0	0	0	11111	652	23	2	51	2	OR52B2	11	6190634	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		6190634	128815882	35	13706											
INSC	387755	broad.mit.edu	37	chr11	15260573	15260573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagtgaccctggctcGtctcagccgagacccagatg	8	7	12	14	2	1	3	1	1	1	2	3	4	1	3	3	1	3	3	3	1	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:15260573G>C	ENST00000379554.3	+	11	1533	c.1487G>C	c.(1486-1488)cGt>cCt	p.R496P	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.R449P|INSC_ENST00000528567.1_Missense_Mutation_p.R449P|INSC_ENST00000525218.1_Missense_Mutation_p.R407P|INSC_ENST00000424273.1_Missense_Mutation_p.R407P|INSC_ENST00000379556.3_Missense_Mutation_p.R449P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607																																						uc001mlz.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1345-1347)cGt>cCt		Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.							51	53	52					11																	15260573		2086	4206	6292	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260573G>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1487G>C	11.37:g.15260573G>C	ENSP00000368872:p.Arg496Pro					INSC_uc001mly.3_Missense_Mutation_p.R496P|INSC_uc001mma.3_Missense_Mutation_p.R449P|INSC_uc010rcs.2_Missense_Mutation_p.R484P|INSC_uc001mmb.3_Missense_Mutation_p.R449P|INSC_uc001mmc.3_Missense_Mutation_p.R407P	p.R449P	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN			10	1457	+			496					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1346G>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969858	0.92855	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	P	496;449;407;449;449;407	ENSP00000368872:R496P;ENSP00000368874:R449P;ENSP00000389161:R407P;ENSP00000435022:R449P;ENSP00000436194:R449P;ENSP00000436113:R407P	ENSP00000368872:R496P	R	+	2	0	INSC	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		C	15260573	G	C	15260573	3	2	194	1	0	0	0	0	1	0	0	0	7764	1145	40	5	1529	5	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	9069939	15260573	119745943	36	13707											
HIPK3	10114	broad.mit.edu	37	chr11	33362619	33362619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagaccagttgcttcaagCagtactgctacactgactgc	11	11	8	11	0	1	2	1	1	0	1	1	2	1	2	1	0	6	5	1	0	4	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:33362619C>A	ENST00000303296.4	+	7	2024	c.1719C>A	c.(1717-1719)agC>agA	p.S573R	HIPK3_ENST00000456517.1_Missense_Mutation_p.S573R|HIPK3_ENST00000379016.3_Missense_Mutation_p.S573R|HIPK3_ENST00000525975.1_Missense_Mutation_p.S573R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	573					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTGCTTCAAGCAGTACTGCTA	0.318																																						uc001mul.1																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(1717-1719)agC>agA		Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.							68	63	64					11																	33362619		2202	4295	6497	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33362619C>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1719C>A	11.37:g.33362619C>A	ENSP00000304226:p.Ser573Arg					HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R	p.S573R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			6	1989	+			573					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.1719C>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893692	0.33442	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.53206	0.64;0.63;0.64;0.64	5.68	1.56	0.23342	.	0.609454	0.16267	N	0.221983	T	0.34629	0.0904	L	0.34521	1.04	0.09310	N	1	P;B	0.39665	0.682;0.141	B;B	0.41619	0.361;0.128	T	0.21724	-1.0237	10	0.72032	D	0.01	.	4.0038	0.09592	0.1529:0.4866:0.0:0.3604	.	573;573	Q9H422-2;Q9H422	.;HIPK3_HUMAN	R	573	ENSP00000431710:S573R;ENSP00000304226:S573R;ENSP00000368301:S573R;ENSP00000398241:S573R	ENSP00000304226:S573R	S	+	3	2	HIPK3	33319195	0.964000	0.33143	0.227000	0.23927	0.985000	0.73830	0.245000	0.18142	0.011000	0.14865	0.650000	0.86243	AGC		0.318	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		A	33362619	C	A	33362619	3	1	194	1	0	0	0	0	1	0	0	0	7118	709	25	5	1741	5	HIPK3	11	33362619	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	18102046	33362619	101643897	37	13708											
DGKZ	8525	broad.mit.edu	37	chr11	46393049	46393049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctcagtaccacagcaagGtgtcctgcttcatgctgcag	8	10	9	14	0	2	0	2	0	0	0	4	0	4	0	3	1	5	5	3	1	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:46393049G>A	ENST00000454345.1	+	9	1344	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	DGKZ_ENST00000395574.3_Missense_Mutation_p.V185M|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000343674.6_Missense_Mutation_p.V235M|DGKZ_ENST00000318201.8_Missense_Mutation_p.V196M|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.V223M|DGKZ_ENST00000421244.2_Missense_Mutation_p.V219M|DGKZ_ENST00000456247.2_Missense_Mutation_p.V218M|DGKZ_ENST00000527911.1_Missense_Mutation_p.V219M	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	407					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACAGCAAGGTGTCCTGCTT	0.701																																						uc001ncn.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(1219-1221)Gtg>Atg		Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.							33	39	37					11																	46393049		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46393049G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1219G>A	11.37:g.46393049G>A	ENSP00000412178:p.Val407Met					DGKZ_uc001nch.2_Missense_Mutation_p.V235M|DGKZ_uc010rgq.2_Missense_Mutation_p.V201M|DGKZ_uc010rgr.2_Missense_Mutation_p.V223M|DGKZ_uc001ncj.2_Missense_Mutation_p.V185M|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M	p.V407M	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	8	1344	+			407					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1219G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772911	0.90108	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T	0.26957	2.3;2.5;2.55;3.48;2.3;2.37;2.48;1.7	5.07	5.07	0.68467	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.056514	0.64402	D	0.000001	T	0.33933	0.0880	L	0.40543	1.245	0.80722	D	1	B;P;P;P;P;P;P;P;P	0.45768	0.382;0.571;0.866;0.835;0.792;0.516;0.802;0.74;0.571	B;B;B;P;B;B;P;P;B	0.49477	0.091;0.285;0.391;0.612;0.411;0.187;0.477;0.513;0.285	T	0.03354	-1.1045	10	0.49607	T	0.09	.	18.8612	0.92273	0.0:0.0:1.0:0.0	.	196;184;162;219;407;218;219;185;235	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	M	235;185;184;219;218;219;196;407	ENSP00000343065:V235M;ENSP00000378941:V185M;ENSP00000436273:V184M;ENSP00000436291:V219M;ENSP00000395684:V218M;ENSP00000391021:V219M;ENSP00000320340:V196M;ENSP00000412178:V407M	ENSP00000320340:V196M	V	+	1	0	DGKZ	46349625	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.863000	0.99569	2.536000	0.85505	0.561000	0.74099	GTG		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		A	46393049	G	A	46393049	3	1	194	1	0	0	0	0	1	0	0	0	4474	1261	44	3	1696	3	DGKZ	11	46393049	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	13030430	46393049	88613467	38	13709											
PEX5	5830	broad.mit.edu	37	chr12	7343512	7343512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgggagtagcttctgAagatgaggtaaatagaccag	12	10	13	6	0	1	4	0	2	1	2	1	5	1	5	2	2	1	3	2	2	5	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7343512A>G	ENST00000455147.2	+	4	756	c.176A>G	c.(175-177)gAa>gGa	p.E59G	PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Missense_Mutation_p.E59G|PEX5_ENST00000434354.2_Missense_Mutation_p.E74G|PEX5_ENST00000266564.3_Missense_Mutation_p.E59G|PEX5_ENST00000412720.2_Missense_Mutation_p.E80G|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000266563.5_Missense_Mutation_p.E59G|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	59					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTAGCTTCTGAAGATGAGGTA	0.428																																						uc009zfu.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(175-177)gAa>gGa		Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.							192	184	187					12																	7343512		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7343512A>G	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.176A>G	12.37:g.7343512A>G	ENSP00000400647:p.Glu59Gly					PEX5_uc001qsw.3_Missense_Mutation_p.E59G|PEX5_uc010sgc.2_Missense_Mutation_p.E74G|PEX5_uc001qsu.3_Missense_Mutation_p.E59G|PEX5_uc010sgd.2_Missense_Mutation_p.E80G|PEX5_uc001qsv.3_Missense_Mutation_p.E59G	p.E59G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			3	756	+			59					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.176A>G	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026058	0.54683	.	.	ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000434354;ENST00000544456;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000536841;ENST00000537873;ENST00000266564	D;D;D;D;D;D;D	0.88896	-2.38;-2.38;-2.44;-2.38;-2.39;-2.21;-2.39	4.62	4.62	0.57501	.	0.133236	0.49305	D	0.000142	D	0.91526	0.7324	L	0.47016	1.485	0.54753	D	0.999982	D;P;P;P;B	0.76494	0.999;0.902;0.624;0.475;0.281	D;P;B;B;B	0.81914	0.995;0.546;0.333;0.159;0.122	D	0.90376	0.4384	10	0.33940	T	0.23	.	13.6892	0.62535	1.0:0.0:0.0:0.0	.	80;74;59;59;59	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	G	59;59;59;59;74;59;59;80;74;59;59;59	ENSP00000400647:E59G;ENSP00000266563:E59G;ENSP00000407401:E74G;ENSP00000410159:E59G;ENSP00000391601:E80G;ENSP00000379877:E74G;ENSP00000266564:E59G	ENSP00000266563:E59G	E	+	2	0	PEX5	7234779	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	6.357000	0.73051	1.739000	0.51704	0.402000	0.26972	GAA		0.428	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		G	7343512	A	G	7343512	3	3	194	1	0	0	0	0	1	0	0	0	11748	246	9	4	227	4	PEX5	12	7343512	Missense_Mutation	SNP	A	TCGA-27-2523-01A-01D-1494-08		7343512	126508383	39	13710											
CD163	9332	broad.mit.edu	37	chr12	7651670	7651670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatgacagatgcatgaTctatgttgaagttatcatca	15	13	7	6	0	3	4	2	3	1	1	3	4	3	4	0	0	2	3	0	0	5	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7651670T>A	ENST00000359156.4	-	4	774	c.572A>T	c.(571-573)gAt>gTt	p.D191V	CD163_ENST00000396620.3_Missense_Mutation_p.D191V|CD163_ENST00000432237.2_Missense_Mutation_p.D191V|CD163_ENST00000541972.1_Missense_Mutation_p.D179V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	191	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGATGCATGATCTATGTTGAA	0.428																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(571-573)gAt>gTt		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							282	258	266					12																	7651670		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651670T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.572A>T	12.37:g.7651670T>A	ENSP00000352071:p.Asp191Val					CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V	p.D191V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			3	700	-			191			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.572A>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	2.730	-0.264703	0.05754	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.16	3.93	0.45458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.439230	0.03899	N	0.280066	T	0.29423	0.0733	N	0.16602	0.42	0.18873	N	0.999986	B;B;P	0.40731	0.084;0.302;0.728	B;B;B	0.40982	0.112;0.051;0.345	T	0.24333	-1.0163	10	0.39692	T	0.17	.	10.1154	0.42587	0.0:0.0:0.1679:0.8321	.	191;191;191	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	191;179;191;191	ENSP00000352071:D191V;ENSP00000444071:D179V;ENSP00000379863:D191V;ENSP00000403885:D191V	ENSP00000352071:D191V	D	-	2	0	CD163	7542937	0.000000	0.05858	0.003000	0.11579	0.169000	0.22640	-0.045000	0.12003	2.080000	0.62538	0.528000	0.53228	GAT		0.428	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7651670	T	A	7651670	3	1	194	1	0	0	0	0	1	0	0	0	2967	1435	50	5	2950	5	CD163	12	7651670	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	308158	7651670	126200225	40	13711											
METTL7A	25840	broad.mit.edu	37	chr12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaacctgcaggagtttgCgggcccctccgggaaactct	8	8	12	13	2	1	0	0	0	1	0	2	2	2	2	4	3	4	3	4	3	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552																																						uc001rxb.3																			1	Substitution - Missense(1)	p.A66V(2)	lung(1)	endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(196-198)gCg>gTg		Homo sapiens methyltransferase like 7A (METTL7A), mRNA.							41	41	41					12																	51319018		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319018C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.197C>T	12.37:g.51319018C>T	ENSP00000448785:p.Ala66Val					METTL7A_uc010smv.1_Missense_Mutation_p.A66V	p.A66V	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			0	485	+			66					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.197C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439444	0.25900	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.16597	2.33;2.33;2.33	5.0	-1.08	0.09936	.	0.852961	0.10781	N	0.634907	T	0.09598	0.0236	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.12837	0.003;0.008	T	0.38993	-0.9635	10	0.20519	T	0.43	-1.5348	2.5233	0.04685	0.1123:0.4458:0.1094:0.3324	.	66;66	B4DDW1;Q9H8H3	.;MET7A_HUMAN	V	66	ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V	ENSP00000331787:A66V	A	+	2	0	METTL7A	49605285	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	0.002000	0.13061	-0.304000	0.08843	-0.140000	0.14226	GCG		0.552	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		T	51319018	C	T	51319018	3	4	194	1	0	0	0	0	1	0	0	0	9505	768	27	1	199	1	METTL7A	12	51319018	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	43667348	51319018	82532877	41	13712											
TRHDE	29953	broad.mit.edu	37	chr12	73056901	73056901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgagctgtggaaactgtcGaagccaatgtgcgctggaaa	12	7	13	9	3	0	0	0	0	0	0	1	4	0	2	1	2	4	2	1	2	4	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:73056901G>A	ENST00000261180.4	+	19	3097	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1001					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTGTCGAAGCCAATGT	0.373																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(3001-3003)Gaa>Aaa		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							62	64	63					12																	73056901		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056901G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3001G>A	12.37:g.73056901G>A	ENSP00000261180:p.Glu1001Lys						p.E1001K	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			18	3031	+			1001					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.3001G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898303	0.17686	.	.	ENSG00000072657	ENST00000261180	T	0.01252	5.1	5.35	5.35	0.76521	.	0.110818	0.64402	D	0.000008	T	0.01156	0.0038	N	0.05383	-0.06	0.58432	D	0.999995	B	0.31383	0.321	B	0.28991	0.097	T	0.70601	-0.4827	10	0.11794	T	0.64	.	19.4305	0.94762	0.0:0.0:1.0:0.0	.	1001	Q9UKU6	TRHDE_HUMAN	K	1001	ENSP00000261180:E1001K	ENSP00000261180:E1001K	E	+	1	0	TRHDE	71343168	1.000000	0.71417	0.959000	0.39883	0.973000	0.67179	6.898000	0.75676	2.673000	0.90976	0.557000	0.71058	GAA		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	73056901	G	A	73056901	3	1	194	1	0	0	0	0	1	0	0	0	16476	1059	37	2	3075	2	TRHDE	12	73056901	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	21737883	73056901	60794994	42	13713											
NAP1L1	4673	broad.mit.edu	37	chr12	76447581	76447581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataatttctggtccatcaaAagaaaagggatcagaatcat	17	10	7	7	0	4	2	3	0	1	2	5	3	5	3	1	2	0	0	1	2	6	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:76447581A>C	ENST00000261182.8	-	9	1225	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	NAP1L1_ENST00000393263.3_Missense_Mutation_p.F247V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.F258V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.F64V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.F64V|NAP1L1_ENST00000535020.2_Missense_Mutation_p.F247V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.F247V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.F206V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.F205V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.F179V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.F184V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	247					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGTCCATCAAAAGAAAAGGGA	0.333																																						uc001sxw.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(739-741)Ttt>Gtt		Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.							72	73	72					12																	76447581		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76447581A>C		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.739T>G	12.37:g.76447581A>C	ENSP00000261182:p.Phe247Val					NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.3_Missense_Mutation_p.F247V	p.F247V	NM_139207	NP_631946	P55209	NP1L1_HUMAN			8	1151	-		Colorectal(145;0.09)	247					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.739T>G	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790207	0.90367	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.86	5.58	5.58	0.84498	.	0.045340	0.85682	D	0.000000	T	0.73877	0.3643	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999;0.999;0.992	D;D;D;D;D;D;D	0.87578	0.996;0.998;0.982;0.998;0.992;0.986;0.958	T	0.79482	-0.1785	10	0.66056	D	0.02	.	15.8236	0.78678	1.0:0.0:0.0:0.0	.	247;205;258;247;179;184;247	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	V	247;241;247;179;184;64;205;247;247;64;258;206;220;247;206	ENSP00000261182:F247V;ENSP00000450236:F241V;ENSP00000376947:F247V;ENSP00000409795:F179V;ENSP00000448167:F184V;ENSP00000437507:F64V;ENSP00000444759:F205V;ENSP00000445008:F247V;ENSP00000447793:F247V;ENSP00000448007:F64V;ENSP00000447196:F258V;ENSP00000449649:F206V;ENSP00000448133:F220V;ENSP00000448764:F247V;ENSP00000446787:F206V	ENSP00000261182:F247V	F	-	1	0	NAP1L1	74733848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.135000	0.66039	0.524000	0.50904	TTT		0.333	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		C	76447581	A	C	76447581	3	2	194	1	0	0	0	0	1	0	0	0	10156	14	1	5	464	5	NAP1L1	12	76447581	Missense_Mutation	SNP	A	TCGA-27-2523-01A-01D-1494-08	3390680	76447581	57404314	43	13714											
CRY1	1407	broad.mit.edu	37	chr12	107393552	107393552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccttccattttatcaaagCgtggattatttgttgctgct	7	19	7	8	1	1	0	1	0	0	0	3	1	3	1	2	1	3	3	2	1	3	7			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:107393552C>T	ENST00000008527.5	-	7	1781	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	305					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTTATCAAAGCGTGGATTATT	0.433																																						uc001tmi.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(913-915)cGc>cAc		Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.							53	53	53					12																	107393552		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393552C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.914G>A	12.37:g.107393552C>T	ENSP00000008527:p.Arg305His						p.R305H	NM_004075	NP_004066	Q16526	CRY1_HUMAN			6	1773	-			305			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.914G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570520	0.65765	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.046375	0.85682	D	0.000000	T	0.48714	0.1515	N	0.16016	0.355	0.58432	D	0.999997	B	0.13594	0.008	B	0.15484	0.013	T	0.34650	-0.9820	9	0.25106	T	0.35	-11.8189	20.0308	0.97536	0.0:1.0:0.0:0.0	.	305	Q16526	CRY1_HUMAN	H	305	.	ENSP00000008527:R305H	R	-	2	0	CRY1	105917682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.706000	0.47135	2.732000	0.93576	0.585000	0.79938	CGC		0.433	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		T	107393552	C	T	107393552	3	4	194	1	0	0	0	0	1	0	0	0	3903	768	27	1	870	1	CRY1	12	107393552	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	30945971	107393552	26458343	44	13715											
PCDH9	5101	broad.mit.edu	37	chr13	67802035	67802035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctgcccatttaacaattCataatgctgtacaccattga	13	13	4	11	0	2	1	1	1	1	0	2	1	2	1	2	0	4	2	2	0	4	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr13:67802035C>T	ENST00000377865.2	-	1	672	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E180K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E180K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E180K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E180K			Q9HC56	PCDH9_HUMAN	protocadherin 9	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTAACAATTCATAATGCTGT	0.423																																						uc001vik.3																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(538-540)Gaa>Aaa		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.							121	123	122					13																	67802035		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802035C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.538G>A	13.37:g.67802035C>T	ENSP00000367096:p.Glu180Lys					PCDH9_uc001vil.3_Missense_Mutation_p.E180K|PCDH9_uc010thl.2_Missense_Mutation_p.E180K|PCDH9_uc001vin.3_Missense_Mutation_p.E180K	p.E180K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	1	1230	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	180			Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.538G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322143	0.60634	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.17631	0.505	0.80722	D	1	B;B;P;P	0.37370	0.182;0.198;0.537;0.592	B;B;B;P	0.44422	0.173;0.192;0.32;0.449	T	0.37267	-0.9713	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	180;180;180;180	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	180	ENSP00000442186:E180K;ENSP00000367096:E180K;ENSP00000401699:E180K;ENSP00000332060:E180K;ENSP00000367092:E180K	ENSP00000332060:E180K	E	-	1	0	PCDH9	66700036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		T	67802035	C	T	67802035	3	4	194	1	0	0	0	0	1	0	0	0	11518	835	29	3	3191	3	PCDH9	13	67802035	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		67802035	47367843	45	13716											
FOXA1	3169	broad.mit.edu	37	chr14	38060635	38060635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccggctccagggctgaggGctcgatggggctcctggtgg	3	7	19	12	3	0	1	0	1	0	0	3	2	2	1	3	7	0	4	3	7	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr14:38060635G>C	ENST00000250448.2	-	2	1415	c.1354C>G	c.(1354-1356)Ccc>Gcc	p.P452A	FOXA1_ENST00000540786.1_Missense_Mutation_p.P419A|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	452					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGGCTGAGGGCTCGATGGGG	0.617																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1354-1356)Ccc>Gcc		Homo sapiens forkhead box A1 (FOXA1), mRNA.							62	66	65					14																	38060635		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060635G>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1354C>G	14.37:g.38060635G>C	ENSP00000250448:p.Pro452Ala					FOXA1_uc010tpz.2_Missense_Mutation_p.P419A	p.P452A	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	1666	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		452					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.1354C>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401470	0.25291	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.40476	1.03;1.03	4.13	4.13	0.48395	Forkhead box protein, C-terminal (1);	0.143262	0.48286	D	0.000186	T	0.41073	0.1143	L	0.59436	1.845	0.46542	D	0.999099	B	0.24920	0.114	B	0.23150	0.044	T	0.40098	-0.9581	10	0.45353	T	0.12	.	15.3049	0.73985	0.0:0.0:1.0:0.0	.	452	P55317	FOXA1_HUMAN	A	452;419	ENSP00000250448:P452A;ENSP00000440178:P419A	ENSP00000250448:P452A	P	-	1	0	FOXA1	37130386	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.591000	0.82666	2.128000	0.65567	0.400000	0.26472	CCC		0.617	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			C	38060635	G	C	38060635	3	2	194	1	0	0	0	0	1	0	0	0	5989	1203	42	5	68	5	FOXA1	14	38060635	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		38060635	69288905	46	13717											
LPCAT4	254531	broad.mit.edu	37	chr15	34653631	34653631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaaaggcaccagccacCgtctgaggatcagagagctg	12	5	12	12	1	2	2	1	1	1	1	2	4	2	3	4	2	3	2	4	2	2	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:34653631C>T	ENST00000314891.6	-	11	1290	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	371					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CACCAGCCACCGTCTGAGGAT	0.587																																						uc001zig.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(1111-1113)acG>acA		Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.							85	82	83					15																	34653631		2201	4298	6499	SO:0001819	synonymous_variant	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34653631C>T	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1113G>A	15.37:g.34653631C>T							p.T371T	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN			10	1207	-			371					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	ENST00000314891.6	37	c.1113G>A	CCDS32191.1																																																																																				0.587	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		T	34653631	C	T	34653631	2	4	194	1	0	0	0	0	0	0	0	1	8913	639	23	2		2	LPCAT4	15	34653631	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		34653631	67877761	47	13718											
ITGA11	22801	broad.mit.edu	37	chr15	68612685	68612685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggacagcgtgtatgcGgagcagtcctgcgcaggctt	8	8	15	10	4	0	0	0	0	0	0	2	3	1	2	1	3	4	4	1	3	2	2	rs376522259		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:68612685G>A	ENST00000315757.7	-	20	2540	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	ITGA11_ENST00000423218.2_Silent_p.S818S	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	818					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCGTGTATGCGGAGCAGTCCT	0.592																																						uc010bib.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2452-2454)tcC>tcT		Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	Tirofiban(DB00775)	G		0,4202		0,0,2101	43	44	44		2454	-4.7	0	15		44	1,8467		0,1,4233	no	coding-synonymous	ITGA11	NM_001004439.1		0,1,6334	AA,AG,GG		0.0118,0.0,0.0079		818/1189	68612685	1,12669	2101	4234	6335	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68612685G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2454C>T	15.37:g.68612685G>A						ITGA11_uc002ari.3_Silent_p.S818S	p.S818S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			19	2541	-			818					J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.2454C>T	CCDS45291.1																																																																																				0.592	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		A	68612685	G	A	68612685	2	1	194	1	0	0	0	0	0	0	0	1	7874	1103	39	2		2	ITGA11	15	68612685	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08	33959054	68612685	33918707	48	13719											
SETD1A	9739	broad.mit.edu	37	chr16	30976386	30976386	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcctccagaacctggTggaggcgggggtggaggagg	7	4	21	9	2	0	1	0	0	0	1	1	5	1	5	4	9	2	0	4	9	1	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:30976386T>C	ENST00000262519.8	+	7	2009	c.1323T>C	c.(1321-1323)ggT>ggC	p.G441G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	441	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGAACCTGGTGGAGGCGGGG	0.716																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1321-1323)ggT>ggC		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							18	24	22					16																	30976386		2121	4200	6321	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976386T>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1323T>C	16.37:g.30976386T>C							p.G441G	NM_014712	NP_055527	O15047	SET1A_HUMAN			6	2009	+			441			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.1323T>C	CCDS32435.1																																																																																				0.716	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		C	30976386	T	C	30976386	2	2	194	1	0	0	0	0	0	0	0	1	14130	1683	59	4		4	SETD1A	16	30976386	Silent	SNP	T	TCGA-27-2523-01A-01D-1494-08		30976386	59378367	49	13720											
PRSS36	146547	broad.mit.edu	37	chr16	31159857	31159857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcagggccaggtcggCgcccagctccacttggctgt	5	6	15	15	3	0	0	0	0	0	0	2	0	1	0	3	4	2	4	3	4	0	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:31159857C>T	ENST00000268281.4	-	5	470	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	PRSS36_ENST00000418068.2_Missense_Mutation_p.A138T|PRSS36_ENST00000569305.1_Missense_Mutation_p.A138T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	138	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCAGGTCGGCGCCCAGCTCC	0.756																																						uc002ebd.3																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(412-414)Gcc>Acc		Homo sapiens protease, serine, 36 (PRSS36), mRNA.							6	8	7					16																	31159857		1903	3828	5731	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31159857C>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.412G>A	16.37:g.31159857C>T	ENSP00000268281:p.Ala138Thr					PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.A138T|PRSS36_uc010vfh.2_Missense_Mutation_p.A138T	p.A138T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			4	471	-			138			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.412G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667447	0.67814	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.81579	-1.51;-1.51	4.61	1.17	0.20885	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.82866	0.5130	L	0.52206	1.635	0.09310	N	0.999997	B;D;D	0.76494	0.373;0.998;0.999	B;P;P	0.60541	0.104;0.876;0.826	T	0.71686	-0.4518	9	0.33940	T	0.23	.	10.6453	0.45617	0.4754:0.5246:0.0:0.0	.	138;138;138	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	T	138	ENSP00000268281:A138T;ENSP00000407160:A138T	ENSP00000268281:A138T	A	-	1	0	PRSS36	31067358	0.001000	0.12720	0.059000	0.19551	0.720000	0.41350	-1.439000	0.02414	0.442000	0.26555	0.555000	0.69702	GCC		0.756	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		T	31159857	C	T	31159857	3	4	194	1	0	0	0	0	1	0	0	0	12625	768	27	1	2199	1	PRSS36	16	31159857	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	183471	31159857	59194896	50	13721											
POLR2A	5430	broad.mit.edu	37	chr17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtctacgacctttgcaaggGcaaaaacatatgcgagggtg	12	9	12	8	2	1	0	0	0	1	0	1	2	1	0	1	2	4	2	1	2	5	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:7399844G>A	ENST00000322644.6	+	4	848	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_ENST00000572844.1_Missense_Mutation_p.G150D	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	150					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537																																						uc002ghf.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(448-450)gGc>gAc		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.							143	147	146					17																	7399844		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399844G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.449G>A	17.37:g.7399844G>A	ENSP00000314949:p.Gly150Asp					POLR2A_uc002ghe.3_Missense_Mutation_p.G150D	p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN			3	835	+		Prostate(122;0.173)	150					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.449G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987562	0.74589	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.20881	2.04	5.5	5.5	0.81552	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.59967	1.855	0.80722	D	1	B;D	0.53151	0.108;0.958	B;P	0.58130	0.188;0.833	T	0.15838	-1.0423	10	0.87932	D	0	.	18.1636	0.89718	0.0:0.0:1.0:0.0	.	150;150	P24928;Q6NX41	RPB1_HUMAN;.	D	106;150	ENSP00000314949:G150D	ENSP00000314949:G150D	G	+	2	0	SLC35G6	7340568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.589000	0.87451	0.467000	0.42956	GGC		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7399844	G	A	7399844	3	1	194	1	0	0	0	0	1	0	0	0	12214	1203	42	3	463	3	POLR2A	17	7399844	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		7399844	73795366	51	13722											
KIAA0100	9703	broad.mit.edu	37	chr17	26967617	26967617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataccacgcttgtgttcTccatcttaaccttgacctgg	9	13	6	13	1	2	1	0	1	2	0	3	1	2	1	4	1	2	2	4	1	3	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:26967617T>C	ENST00000528896.2	-	8	925	c.851A>G	c.(850-852)gAg>gGg	p.E284G	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E141G|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E141G	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	284						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTTGTGTTCTCCATCTTAAC	0.463																																						uc002hbu.3																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(850-852)gAg>gGg		Homo sapiens KIAA0100 (KIAA0100), mRNA.							172	155	161					17																	26967617		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26967617T>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.851A>G	17.37:g.26967617T>C	ENSP00000436773:p.Glu284Gly					KIAA0100_uc002hbv.3_Missense_Mutation_p.E284G|KIAA0100_uc010crr.2_Missense_Mutation_p.E141G	p.E284G	NM_014680	NP_055495	Q14667	K0100_HUMAN			7	954	-	Lung NSC(42;0.00431)		284					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.851A>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	32	5.162125	0.94727	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.26957	1.72;1.7	5.72	5.72	0.89469	FMP27, N-terminal (1);	0.103825	0.64402	D	0.000003	T	0.33904	0.0879	L	0.32530	0.975	0.58432	D	0.999991	D;P;P	0.63046	0.992;0.925;0.762	P;P;B	0.57101	0.813;0.621;0.396	T	0.02539	-1.1144	10	0.25106	T	0.35	.	16.0037	0.80327	0.0:0.0:0.0:1.0	.	141;284;284	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	G	284;284;284;141	ENSP00000436773:E284G;ENSP00000446443:E141G	ENSP00000005905:E284G	E	-	2	0	KIAA0100	23991744	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.245000	0.78237	2.184000	0.69523	0.533000	0.62120	GAG		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26967617	T	C	26967617	3	2	194	1	0	0	0	0	1	0	0	0	8154	1551	54	4	5984	4	KIAA0100	17	26967617	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	19567773	26967617	54227593	52	13723											
TUBG1	7283	broad.mit.edu	37	chr17	40766544	40766544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcagaggatccgggaaCgcaagttggccaacttcatc	10	8	12	11	2	1	1	1	0	0	1	3	3	2	3	2	3	3	4	2	3	3	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:40766544C>T	ENST00000251413.3	+	10	1089	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	343					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GATCCGGGAACGCAAGTTGGC	0.657																																					Colon(20;114 698 11420 22864)	uc002ian.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1027-1029)Cgc>Tgc		Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.							39	45	43					17																	40766544		2203	4299	6502	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766544C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1027C>T	17.37:g.40766544C>T	ENSP00000251413:p.Arg343Cys						p.R343C	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	9	1425	+		Breast(137;0.00116)	343					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1027C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865077	0.51482	.	.	ENSG00000131462	ENST00000251413	D	0.83914	-1.78	4.21	3.21	0.36854	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.93203	0.7835	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93575	0.6907	10	0.87932	D	0	-15.9353	10.6507	0.45647	0.5695:0.4305:0.0:0.0	.	343	P23258	TBG1_HUMAN	C	343	ENSP00000251413:R343C	ENSP00000251413:R343C	R	+	1	0	TUBG1	38020070	1.000000	0.71417	0.788000	0.31933	0.945000	0.59286	1.494000	0.35616	0.928000	0.37168	0.563000	0.77884	CGC		0.657	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		T	40766544	C	T	40766544	3	4	194	1	0	0	0	0	1	0	0	0	16761	536	19	1	1065	1	TUBG1	17	40766544	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	13798927	40766544	40428666	53	13724											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60021766	60021766	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggcgcccagcacccGtgtacgggttggatgtgtgc	4	8	17	12	3	0	0	0	0	0	0	0	1	0	1	3	4	3	3	3	4	1	2	rs139968917		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr18:60021766G>A	ENST00000586569.1	+	4	464	c.426G>A	c.(424-426)ccG>ccA	p.P142P	TNFRSF11A_ENST00000269485.7_Splice_Site_p.P142P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	142					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCCAGCACCCGTGTACGGGTT	0.647																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.e4+1		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							27	31	29					18																	60021766		2142	4219	6361	SO:0001630	splice_region_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60021766G>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.427+1G>A	18.37:g.60021766G>A						TNFRSF11A_uc010dpv.3_Splice_Site_p.L143_splice	p.L143_splice	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			4	465	+		Colorectal(73;0.188)	143					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.427_splice	CCDS11980.1																																																																																				0.647	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		Silent	A	60021766	G	A	60021766	5	1	194	1	0	0	0	0	0	0	1	0	16281	1159	40	1	440	1	TNFRSF11A	18	60021766	Splice_Site	SNP	G	TCGA-27-2523-01A-01D-1494-08		60021766	18055482	54	13725											
MUC16	94025	broad.mit.edu	37	chr19	8962003	8962003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggagtcctgccaagccGatgaggatgacagcccagaa	12	4	12	13	1	0	3	0	2	0	1	1	6	1	5	5	2	3	0	5	2	2	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:8962003G>A	ENST00000397910.4	-	83	43577	c.43374C>T	c.(43372-43374)atC>atT	p.I14458I	MUC16_ENST00000380951.5_Silent_p.I1099I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22103	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCCAAGCCGATGAGGATGA	0.577																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43372-43374)atC>atT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							57	60	59					19																	8962003		2005	4175	6180	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8962003G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43374C>T	19.37:g.8962003G>A						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.I1258I|MUC16_uc021uog.1_Non-coding_Transcript	p.I14458I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			82	43578	-			13929	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.43374C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745613	0.03065	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.6	2.46	0.29980	.	.	.	.	.	T	0.42810	0.1219	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50898	-0.8773	3	.	.	.	.	7.3981	0.26948	0.1992:0.0:0.8008:0.0	.	.	.	.	L	1281	.	.	S	-	2	0	MUC16	8823003	1.000000	0.71417	0.993000	0.49108	0.028000	0.11728	1.203000	0.32284	0.688000	0.31529	-0.266000	0.10368	TCG		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8962003	G	A	8962003	2	1	194	1	0	0	0	0	0	0	0	1	9973	1048	37	2		2	MUC16	19	8962003	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08		8962003	50166980	55	13726											
LPPR2	64748	broad.mit.edu	37	chr19	11472001	11472001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccgccccaactacaCggccctgggctgcctgccac	5	6	11	19	3	0	0	0	0	0	0	0	0	0	0	6	2	5	1	6	2	2	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:11472001C>T	ENST00000251473.5	+	6	876	c.500C>T	c.(499-501)aCg>aTg	p.T167M	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.T142M	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCCAACTACACGGCCCTGGGC	0.682																																						uc002mrf.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(424-426)aCg>aTg		Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.							64	51	55					19																	11472001		2203	4300	6503	SO:0001583	missense	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11472001C>T																												ENST00000251473.5:c.500C>T	19.37:g.11472001C>T	ENSP00000251473:p.Thr167Met					LPPR2_uc002mre.2_Missense_Mutation_p.T167M|LPPR2_uc010dxy.2_5'UTR	p.T142M	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN			5	801	+			167						Missense_Mutation	SNP	ENST00000251473.5	37	c.425C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.772066	0.90108	.	.	ENSG00000105520	ENST00000251473	T	0.50548	0.74	5.18	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.89287	3.02	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.77787	-0.2457	10	0.87932	D	0	-9.7623	12.8765	0.57994	0.0:0.9188:0.0:0.0812	.	142;167	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	M	167	ENSP00000251473:T167M	ENSP00000251473:T167M	T	+	2	0	AC024575.1	11333001	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.405000	0.66351	1.184000	0.42957	0.450000	0.29827	ACG		0.682	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			T	11472001	C	T	11472001	3	4	194	1	0	0	0	0	1	0	0	0	8925	536	19	1	514	1	LPPR2	19	11472001	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	2509998	11472001	47656982	56	13727											
PIK3R2	5296	broad.mit.edu	37	chr19	18277106	18277106	+	Frame_Shift_Del	DEL	T	T	-																															tgagggcaacgagaaagagaTgcaaaggtgagtctggcgcc																										TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:18277106delT	ENST00000593731.1	+	12	2113	c.1553delT	c.(1552-1554)atgfs	p.M518fs	PIK3R2_ENST00000222254.8_Frame_Shift_Del_p.M518fs			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	518					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAGAAAGAGATGCAAAGGTGA	0.567																																						uc002nia.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1552-1554)atgfs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.							51	49	50					19																	18277106		2203	4300	6503	SO:0001589	frameshift_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277106delT		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1553delT	19.37:g.18277106delT	ENSP00000471914:p.Met518fs					PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	p.M518fs	NM_005027	NP_005018	O00459	P85B_HUMAN			11	2065	+			518					Q5EAT5|Q9UPH9	Frame_Shift_Del	DEL	ENST00000593731.1	37	c.1553delT	CCDS12371.1																																																																																				0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		-	18277106	T	-	18277106	7	5	194	1	0	1	0	1	0	0	0	0	11919	1464	51	0	1595	0	PIK3R2	19	18277106	Frame_Shift_Del	DEL	T	TCGA-27-2523-01A-01D-1494-08	6805105	18277106	40851877	57	13728											
KIRREL2	84063	broad.mit.edu	37	chr19	36351843	36351843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcaaagccggagcccGtgtccgtggacgtgggggaa	8	5	18	10	4	0	0	0	0	0	0	1	3	1	3	3	5	3	2	3	5	2	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:36351843G>A	ENST00000360202.5	+	8	1159	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	KIRREL2_ENST00000347900.6_Missense_Mutation_p.V271M|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.V321M|KIRREL2_ENST00000592409.1_Missense_Mutation_p.V321M	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	321	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCGGAGCCCGTGTCCGTGGA	0.672																																						uc002ocb.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(961-963)Gtg>Atg		Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.							20	23	22					19																	36351843		2194	4297	6491	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351843G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.961G>A	19.37:g.36351843G>A	ENSP00000353331:p.Val321Met					KIRREL2_uc002obz.4_Missense_Mutation_p.V321M|KIRREL2_uc002oca.4_Missense_Mutation_p.V271M|KIRREL2_uc002ocd.4_Missense_Mutation_p.V318M	p.V321M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1173	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		321			Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.961G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	1.526	-0.545693	0.04024	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.13657	2.57;2.57;2.57	4.48	-8.96	0.00761	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.509370	0.04091	N	0.311202	T	0.08758	0.0217	L	0.43757	1.38	0.09310	N	1	B;B;B;B;B	0.23540	0.016;0.013;0.016;0.087;0.032	B;B;B;B;B	0.19391	0.01;0.006;0.025;0.023;0.014	T	0.14952	-1.0454	10	0.29301	T	0.29	-0.0068	2.2567	0.04057	0.1312:0.201:0.4566:0.2113	.	321;301;321;271;321	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	M	321;271;321;301	ENSP00000262625:V321M;ENSP00000345067:V271M;ENSP00000353331:V321M	ENSP00000262625:V321M	V	+	1	0	KIRREL2	41043683	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.838000	0.00739	-2.863000	0.00326	0.450000	0.29827	GTG		0.672	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		A	36351843	G	A	36351843	3	1	194	1	0	0	0	0	1	0	0	0	8325	1145	40	1	991	1	KIRREL2	19	36351843	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	18074737	36351843	22777140	58	13729											
SLC17A7	57030	broad.mit.edu	37	chr19	49934369	49934369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgctggcgtagcgcGgggctatgtccaggtggttc	5	10	18	8	3	0	1	0	1	0	0	2	2	1	2	1	6	2	4	1	6	2	3	rs17855709		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:49934369G>A	ENST00000221485.3	-	11	1463	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.P419L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.P364L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	431			P -> R (in dbSNP:rs17855709). {ECO:0000269|PubMed:15489334}.		glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCGTAGCGCGGGGCTATGTC	0.607																																						uc002pnp.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1291-1293)cCg>cTg		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.							89	73	79					19																	49934369		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934369G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1292C>T	19.37:g.49934369G>A	ENSP00000221485:p.Pro431Leu					SLC17A7_uc002pno.3_Missense_Mutation_p.P93L	p.P431L	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	10	1464	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	431		P -> R (in dbSNP:rs17855709).			B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1292C>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219352	0.95139	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.68903	-0.36;-0.36	4.23	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100866	0.42172	D	0.000759	D	0.85048	0.5608	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.88776	0.3267	10	0.87932	D	0	.	14.4839	0.67603	0.0:0.0:1.0:0.0	.	431;273	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	L	431;419	ENSP00000221485:P431L;ENSP00000441767:P419L	ENSP00000221485:P431L	P	-	2	0	SLC17A7	54626181	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.287000	0.95975	2.375000	0.81037	0.484000	0.47621	CCG		0.607	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			A	49934369	G	A	49934369	3	1	194	1	0	0	0	0	1	0	0	0	14422	1116	39	2	398	2	SLC17A7	19	49934369	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	13582526	49934369	9194614	59	13730											
SULF2	55959	broad.mit.edu	37	chr20	46386007	46386007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcggtccctctgaaacCtgcctttcaggcggtggtgc	4	11	12	14	2	2	1	1	1	1	0	4	1	4	1	4	4	4	0	4	4	1	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:46386007C>T	ENST00000359930.4	-	2	952	c.101G>A	c.(100-102)aGg>aAg	p.R34K	SULF2_ENST00000361612.4_Missense_Mutation_p.R34K|SULF2_ENST00000484875.1_Missense_Mutation_p.R34K|SULF2_ENST00000467815.1_Missense_Mutation_p.R34K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	34					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTCTGAAACCTGCCTTTCAG	0.647																																						uc002xto.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(100-102)aGg>aAg		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							61	44	50					20																	46386007		2202	4295	6497	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46386007C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.101G>A	20.37:g.46386007C>T	ENSP00000353007:p.Arg34Lys					SULF2_uc002xtr.3_Missense_Mutation_p.R34K|SULF2_uc002xtq.3_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K	p.R34K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			1	431	-			34					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.101G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581223	0.65992	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-4.42	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.79011	2.435	0.48511	D	0.999667	B;P;B	0.34522	0.319;0.455;0.326	B;B;B	0.40285	0.204;0.325;0.174	D	0.99940	1.1397	10	0.62326	D	0.03	-19.6969	17.0687	0.86567	0.0:1.0:0.0:0.0	.	34;34;34	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	K	34	ENSP00000353007:R34K;ENSP00000418290:R34K;ENSP00000354662:R34K;ENSP00000418442:R34K;ENSP00000410026:R34K	ENSP00000353007:R34K	R	-	2	0	SULF2	45819414	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.056000	0.76662	2.106000	0.64143	0.561000	0.74099	AGG		0.647	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46386007	C	T	46386007	3	4	194	1	0	0	0	0	1	0	0	0	15370	681	24	3	2591	3	SULF2	20	46386007	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		46386007	16639513	60	13731											
SLCO4A1	28231	broad.mit.edu	37	chr20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcctcttccacaggaCggagctgaccaccgagagcc	9	5	10	17	2	1	2	0	1	1	1	2	5	2	4	6	2	3	1	6	2	0	1	rs373121417		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:61291766C>T	ENST00000370507.1	+	3	986	c.890C>T	c.(889-891)aCg>aTg	p.T297M	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.T297M|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	297					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T297M(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCCACAGGACGGAGCTGACC	0.687																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			1	Substitution - Missense(1)	p.T297M(2)	lung(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(889-891)aCg>aTg		Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.		C	MET/THR	0,4406		0,0,2203	34	35	34		890	1.5	0.7	20		34	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4A1	NM_016354.3	81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	297/723	61291766	1,13001	2203	4298	6501	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61291766C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.890C>T	20.37:g.61291766C>T	ENSP00000359538:p.Thr297Met						p.T297M	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		3	1095	+	Breast(26;3.65e-08)		297					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.890C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716148	0.30413	0.0	1.16E-4	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.39592	1.07;1.07	4.64	1.49	0.22878	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.89785	3.06	0.46901	D	0.999241	P	0.38020	0.615	B	0.40199	0.322	T	0.37641	-0.9697	10	0.46703	T	0.11	.	5.6709	0.17721	0.276:0.5726:0.0:0.1514	.	297	Q96BD0	SO4A1_HUMAN	M	297	ENSP00000217159:T297M;ENSP00000359538:T297M	ENSP00000217159:T297M	T	+	2	0	SLCO4A1	60762211	0.865000	0.29922	0.683000	0.30040	0.184000	0.23303	1.648000	0.37271	0.042000	0.15717	0.561000	0.74099	ACG		0.687	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61291766	C	T	61291766	3	4	194	1	0	0	0	0	1	0	0	0	14729	536	19	1	900	1	SLCO4A1	20	61291766	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	14905759	61291766	1733754	61	13732											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000294	46000294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgggctcacaggcCgcctggcagcaggggctgga	6	4	19	12	1	1	0	1	0	0	0	1	1	1	1	2	8	1	5	2	8	0	0	rs201287112		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr21:46000294C>T	ENST00000400372.1	-	1	187	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	54	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTCACAGGCCGCCTGGCAGC	0.716													.|||	1	0.000199681	8e-04	0	5008	,	,		17574	0		0	False		,,,				2504	0					uc002zfl.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(160-162)gcG>gcA		Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.							30	36	34					21																	46000294		2190	4281	6471	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:46000294C>T	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.162G>A	21.37:g.46000294C>T						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A54A	NM_198694	NP_941967	P60370	KR105_HUMAN			0	188	-			54			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.162G>A	CCDS42958.1																																																																																				0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			T	46000294	C	T	46000294	2	4	194	1	0	0	0	0	0	0	0	1	8512	639	23	2		2	KRTAP10-5	21	46000294	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		46000294	2129601	62	13733											
C1QTNF6	114904	broad.mit.edu	37	chr22	37581311	37581311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggcagggcgtgggggCggccggaggaagaggctgag	7	4	22	8	3	1	2	1	1	1	1	2	4	1	4	1	8	0	2	1	8	1	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr22:37581311C>T	ENST00000337843.2	-	2	311	c.236G>A	c.(235-237)cGc>cAc	p.R79H	C1QTNF6_ENST00000255836.6_5'Flank|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.R79H	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	60	Collagen-like.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GGCGTGGGGGCGGCCGGAGGA	0.632																																						uc003aqx.1																			0		p.G78C(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(235-237)cGc>cAc		Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.							38	40	40					22																	37581311		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37581311C>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.236G>A	22.37:g.37581311C>T	ENSP00000338812:p.Arg79His					C1QTNF6_uc003aqw.1_Missense_Mutation_p.R60H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_Non-coding_Transcript	p.R79H	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			1	499	-			60			Collagen-like.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.236G>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	0.358	-0.940883	0.02322	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.36878	1.23;1.23	4.05	0.691	0.18045	.	1.407880	0.04467	N	0.375411	T	0.19525	0.0469	N	0.14661	0.345	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.001	T	0.16958	-1.0385	10	0.13853	T	0.58	.	4.1956	0.10441	0.5538:0.1738:0.2724:0.0	.	79;60	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	79	ENSP00000380299:R79H;ENSP00000338812:R79H	ENSP00000338812:R79H	R	-	2	0	C1QTNF6	35911257	0.011000	0.17503	0.647000	0.29507	0.004000	0.04260	1.289000	0.33307	0.041000	0.15688	-2.104000	0.00359	CGC		0.632	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		T	37581311	C	T	37581311	3	4	194	1	0	0	0	0	1	0	0	0	1967	768	27	1	608	1	C1QTNF6	22	37581311	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		37581311	13723255	63	13734											
GABRQ	55879	broad.mit.edu	37	chrX	151820044	151820044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacatctgcgggataagctCcccaacatttcctgtatcaa	11	11	6	13	1	3	0	2	0	1	0	5	1	5	1	3	1	3	2	3	1	4	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrX:151820044C>T	ENST00000370306.2	+	8	977	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	319					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGATAAGCTCCCCAACATTT	0.448																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(955-957)ctC>ctT		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.							347	277	301					X																	151820044		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820044C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.957C>T	X.37:g.151820044C>T							p.L319L	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			7	977	+	Acute lymphoblastic leukemia(192;6.56e-05)		319					A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.957C>T	CCDS14707.1																																																																																				0.448	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		T	151820044	C	T	151820044	2	4	194	1	0	0	0	0	0	0	0	1	6175	842	30	3		3	GABRQ	23	151820044	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		151820044	3450516	64	13735											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605715	5605715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcaatcagccacagctCttctctgccacaggttattg	8	12	8	13	0	3	0	1	0	2	0	4	0	3	0	2	1	5	4	2	1	2	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrY:5605715C>T	ENST00000215473.6	+	6	3755	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1252					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCACAGCTCTTCTCTGCCA	0.552																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3754-3756)tCt>tTt		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605715C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3755C>T	Y.37:g.5605715C>T	ENSP00000215473:p.Ser1252Phe					PCDH11Y_uc022ciy.1_Non-coding_Transcript	p.S1252F	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			4	4489	+			1252					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3755C>T																																																																																					0.552	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		T	5605715	C	T	5605715	3	4	194	1	0	0	0	0	1	0	0	0	11509	913	32	3	3831	3	PCDH11Y	24	5605715	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		5605715	53767851	65	13736											
TAS1R1	80835	broad.mit.edu	37	chr1	6639227	6639227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggtggtgtggaccccActgcctgctagggaatacca	7	9	14	11	0	0	0	0	0	0	0	0	2	0	2	4	5	3	2	4	5	3	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:6639227A>G	ENST00000333172.6	+	6	2302	c.2109A>G	c.(2107-2109)ccA>ccG	p.P703P	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.P449P|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	703					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGGACCCCACTGCCTGCTA	0.577																																						uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2107-2109)ccA>ccG		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.							107	98	101					1																	6639227		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639227A>G		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2109A>G	1.37:g.6639227A>G						TAS1R1_uc001anu.3_Silent_p.P449P|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	p.P703P	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	5	2205	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	703					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2109A>G	CCDS81.1																																																																																				0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			G	6639227	A	G	6639227	2	3	195	1	0	0	0	0	0	0	0	1	15559	146	6	4		4	TAS1R1	1	6639227	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08		6639227	242611394	1	13737											
PABPC4	8761	broad.mit.edu	37	chr1	40029374	40029374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcagcagcagcaacaGcagcgcgtggcgctaagttc	10	4	16	11	3	0	0	0	0	0	0	1	1	0	1	0	3	7	7	0	3	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:40029374G>A	ENST00000372857.3	-	12	2324	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	PABPC4_ENST00000372862.3_Missense_Mutation_p.A482V|PABPC4_ENST00000372856.3_Missense_Mutation_p.A498V|PABPC4_ENST00000372858.3_Missense_Mutation_p.A527V|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	511	Poly-Ala.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGCAACAGCAGCGCGTGG	0.572																																						uc001cdl.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1579-1581)gCt>gTt		Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.							51	56	54					1																	40029374		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029374G>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1532C>T	1.37:g.40029374G>A	ENSP00000361948:p.Ala511Val					PABPC4_uc010oiv.1_Missense_Mutation_p.A511V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	p.A527V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2478	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	511					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1580C>T	CCDS438.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476938	0.44044	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.42513	0.97;2.52;2.52;2.43	5.67	5.67	0.87782	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.630929	0.17960	N	0.156224	T	0.43100	0.1232	L	0.43923	1.385	0.43494	D	0.995735	B;B;B	0.19445	0.001;0.002;0.036	B;B;B	0.28991	0.006;0.008;0.097	T	0.16837	-1.0389	10	0.27785	T	0.31	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	511;498;527	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	482;527;511;498	ENSP00000361953:A482V;ENSP00000361949:A527V;ENSP00000361948:A511V;ENSP00000361947:A498V	ENSP00000361947:A498V	A	-	2	0	PABPC4	39801961	1.000000	0.71417	0.956000	0.39512	0.174000	0.22865	9.383000	0.97214	2.836000	0.97738	0.655000	0.94253	GCT		0.572	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		A	40029374	G	A	40029374	3	1	195	1	0	0	0	0	1	0	0	0	11366	971	34	3	418	3	PABPC4	1	40029374	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	33390147	40029374	209221247	2	13738											
WDR47	22911	broad.mit.edu	37	chr1	109553699	109553699	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttatcatgactggttagTccacaggtgaggccatctaa	10	12	9	10	0	3	2	1	2	2	0	4	2	4	2	2	3	0	1	2	3	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:109553699T>A	ENST00000369962.3	-	5	1191	c.969A>T	c.(967-969)ggA>ggT	p.G323G	WDR47_ENST00000400794.3_Silent_p.G330G|WDR47_ENST00000369965.4_Silent_p.G323G|WDR47_ENST00000357672.3_Silent_p.G295G|WDR47_ENST00000361054.3_Silent_p.G295G			O94967	WDR47_HUMAN	WD repeat domain 47	323					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GACTGGTTAGTCCACAGGTGA	0.448																																						uc001dwl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(988-990)ggA>ggT		Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.							223	246	238					1																	109553699		2203	4296	6499	SO:0001819	synonymous_variant	22911							g.chr1:109553699T>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.969A>T	1.37:g.109553699T>A						WDR47_uc001dwi.3_Silent_p.G323G|WDR47_uc001dwj.3_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.2_Silent_p.G250G	p.G330G	NM_001142550	NP_001136022	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	1366	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	323					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	ENST00000369962.3	37	c.990A>T	CCDS44187.1																																																																																				0.448	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		A	109553699	T	A	109553699	2	1	195	1	0	0	0	0	0	0	0	1	17297	1654	58	5		5	WDR47	1	109553699	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	69524325	109553699	139696922	3	13739											
RPTN	126638	broad.mit.edu	37	chr1	152127651	152127651	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtggccgttctgctGtgagtccctagactggaatc	6	12	12	11	1	1	2	0	1	1	1	3	3	2	3	3	3	2	2	3	3	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:152127651G>A	ENST00000316073.3	-	3	1988	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	642	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTTCTGCTGTGAGTCCCTA	0.483																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1924-1926)Cag>Tag		Homo sapiens repetin (RPTN), mRNA.							221	184	195					1																	152127651		1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127651G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1924C>T	1.37:g.152127651G>A	ENSP00000317895:p.Gln642*						p.Q642*	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1989	-			642			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.1924C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113958	0.56398	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	4.05	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	7.0856	11.3485	0.49575	0.0:0.1858:0.8142:0.0	.	.	.	.	X	642;297	.	ENSP00000317895:Q642X	Q	-	1	0	RPTN	150394275	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.848000	0.27710	0.902000	0.36520	0.579000	0.79373	CAG		0.483	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		A	152127651	G	A	152127651	4	1	195	1	0	0	0	0	0	1	0	0	13664	1386	48	3	434	3	RPTN	1	152127651	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	42573952	152127651	97122970	4	13740											
PLXNA2	5362	broad.mit.edu	37	chr1	208205103	208205103	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacaaacttctgcagggtgCcctggaggaggggtggggga	8	6	18	9	0	1	0	0	0	1	0	1	3	1	3	2	7	3	1	2	7	1	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:208205103C>T	ENST00000367033.3	-	29	5814	c.5057G>A	c.(5056-5058)gGc>gAc	p.G1686D	PLXNA2_ENST00000483048.1_5'Flank	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1686					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGGTGCCCTGGAGGAG	0.572																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.e29-1		Homo sapiens plexin A2 (PLXNA2), mRNA.							41	40	41					1																	208205103		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208205103C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5056-1G>A	1.37:g.208205103C>T						PLXNA2_uc001hgy.3_5'Flank	p.G1686_splice	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	29	5814	-			1686					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.5056_splice	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640139	0.87760	.	.	ENSG00000076356	ENST00000367033	T	0.18810	2.19	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.114452	0.64402	D	0.000012	T	0.57917	0.2086	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69416	-0.5151	10	0.87932	D	0	.	18.5493	0.91057	0.0:1.0:0.0:0.0	.	1686	O75051	PLXA2_HUMAN	D	1686	ENSP00000356000:G1686D	ENSP00000356000:G1686D	G	-	2	0	PLXNA2	206271726	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.345000	0.79337	2.618000	0.88619	0.655000	0.94253	GGC		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Missense_Mutation	T	208205103	C	T	208205103	5	4	195	1	0	0	0	0	0	0	1	0	12120	753	26	3	643	3	PLXNA2	1	208205103	Splice_Site	SNP	C	TCGA-27-2524-01A-01D-1494-08	56077452	208205103	41045518	5	13741											
ADD2	119	broad.mit.edu	37	chr2	70890611	70890611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcaggaaggagggggttcgGaatttctttttcttctttga	7	17	12	5	1	4	1	1	1	3	0	5	4	4	4	0	5	0	1	0	5	2	7			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:70890611G>C	ENST00000264436.4	-	16	2571	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	ADD2_ENST00000407644.2_Missense_Mutation_p.F709L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	709	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGGGTTCGGAATTTCTTTT	0.527																																						uc021vjc.1																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(2125-2127)ttC>ttG		Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.							160	168	165					2																	70890611		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890611G>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.2127C>G	2.37:g.70890611G>C	ENSP00000264436:p.Phe709Leu					ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.F709L	p.F709L	NM_001185054	NP_001608	P35612	ADDB_HUMAN			15	2392	-			709			Interaction with calmodulin (Potential).		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.2127C>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142893	0.77888	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.53423	0.62;0.62	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.47716	1.5	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.63070	-0.6719	10	0.87932	D	0	-22.8511	16.6543	0.85224	0.0:0.0:1.0:0.0	.	709	P35612	ADDB_HUMAN	L	709;709;460	ENSP00000264436:F709L;ENSP00000384677:F709L	ENSP00000264436:F709L	F	-	3	2	ADD2	70744119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.955000	0.87856	2.592000	0.87571	0.655000	0.94253	TTC		0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		C	70890611	G	C	70890611	3	2	195	1	0	0	0	0	1	0	0	0	305	1165	41	5	57	5	ADD2	2	70890611	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		70890611	172308762	6	13742											
CLASP1	23332	broad.mit.edu	37	chr2	122216417	122216417	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctataacatacttaccCgaataattaacctaacagct	15	11	4	11	1	0	0	0	0	0	0	0	1	0	0	3	1	6	1	3	1	8	7			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:122216417C>T	ENST00000263710.4	-	13	1702	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	CLASP1_ENST00000541377.1_Splice_Site_p.R438Q|CLASP1_ENST00000409078.3_Splice_Site_p.R438Q|CLASP1_ENST00000545861.1_Splice_Site_p.R206Q|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000455322.2_Splice_Site_p.R438Q|CLASP1_ENST00000397587.3_Splice_Site_p.R438Q|CLASP1_ENST00000541859.1_Splice_Site_p.R207Q	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	438					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CATACTTACCCGAATAATTAA	0.338																																						uc002tnc.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.e13+1		Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.							68	69	68					2																	122216417		1836	4096	5932	SO:0001630	splice_region_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122216417C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1314+1G>A	2.37:g.122216417C>T						CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Splice_Site|CLASP1_uc002tnb.3_Splice_Site|CLASP1_uc010yyx.2_Splice_Site|CLASP1_uc010yyy.2_Splice_Site|CLASP1_uc010yyz.2_Splice_Site_p.R438_splice|CLASP1_uc010yza.2_Splice_Site_p.R438_splice|CLASP1_uc021vnl.1_Splice_Site_p.R438_splice|CLASP1_uc010yzc.2_Splice_Site|CLASP1_uc002tng.1_Splice_Site_p.R438_splice	p.R438_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			13	1704	-	Renal(3;0.0496)		438					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.1314_splice		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037978	0.93630	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66280	-0.2;1.03;1.03;1.03;-0.2;1.03;-0.2	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.111459	0.64402	D	0.000007	T	0.72732	0.3497	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.994;0.99;0.994;0.997	T	0.64909	-0.6296	10	0.16896	T	0.51	-10.2852	19.6233	0.95669	0.0:1.0:0.0:0.0	.	438;438;438;438	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	Q	438;438;438;438;207;438;206	ENSP00000263710:R438Q;ENSP00000389372:R438Q;ENSP00000380717:R438Q;ENSP00000441625:R438Q;ENSP00000441770:R207Q;ENSP00000386442:R438Q;ENSP00000438620:R206Q	ENSP00000263710:R438Q	R	-	2	0	CLASP1	121932887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.782000	0.85680	2.714000	0.92807	0.655000	0.94253	CGG		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation	T	122216417	C	T	122216417	5	4	195	1	0	0	0	0	0	0	1	0	3454	666	23	2	3467	2	CLASP1	2	122216417	Splice_Site	SNP	C	TCGA-27-2524-01A-01D-1494-08	51325806	122216417	120982956	7	13743											
MBD5	55777	broad.mit.edu	37	chr2	149220206	149220206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaacatacctgcttactGatggaacatgcaagtgtggc	13	11	9	8	0	0	1	0	1	0	0	0	2	0	2	1	2	6	2	1	2	6	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:149220206G>A	ENST00000407073.1	+	7	1166	c.169G>A	c.(169-171)Gat>Aat	p.D57N	MBD5_ENST00000404807.1_Missense_Mutation_p.D57N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	57	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGCTTACTGATGGAACATG	0.353																																						uc002twm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(169-171)Gat>Aat		Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.							137	132	134					2																	149220206		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149220206G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.169G>A	2.37:g.149220206G>A	ENSP00000386049:p.Asp57Asn					MBD5_uc010zbs.2_Non-coding_Transcript	p.D57N	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	6	1166	+			57			MBD.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.169G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091921	0.94149	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.52754	0.65;0.66	5.83	5.83	0.93111	Methyl-CpG DNA binding (1);	0.090693	0.47852	D	0.000212	T	0.66086	0.2754	M	0.66939	2.045	0.80722	D	1	D	0.61080	0.989	P	0.58928	0.848	T	0.67063	-0.5765	10	0.72032	D	0.01	-8.1856	20.1338	0.98010	0.0:0.0:1.0:0.0	.	57	Q9P267	MBD5_HUMAN	N	57	ENSP00000386049:D57N;ENSP00000384672:D57N	ENSP00000384672:D57N	D	+	1	0	MBD5	148936676	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.807000	0.99171	2.770000	0.95276	0.655000	0.94253	GAT		0.353	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			A	149220206	G	A	149220206	3	1	195	1	0	0	0	0	1	0	0	0	9347	1290	45	3	175	3	MBD5	2	149220206	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	27003789	149220206	93979167	8	13744											
PMS1	5378	broad.mit.edu	37	chr2	190660525	190660525	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttgataaaattgaggtgCgagataacggggagggtatc	13	10	15	3	2	0	3	0	2	0	1	1	6	0	4	0	4	2	1	0	4	4	5	rs375147123		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:190660525C>T	ENST00000441310.2	+	3	396	c.163C>T	c.(163-165)Cga>Tga	p.R55*	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Nonsense_Mutation_p.R55*|PMS1_ENST00000374826.4_Nonsense_Mutation_p.R55*|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000447232.2_Nonsense_Mutation_p.R55*|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409823.3_Nonsense_Mutation_p.R55*	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	55					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATTGAGGTGCGAGATAACGG	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.4			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(163-165)Cga>Tga	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	73	73	73		163,163,163	3.9	0.9	2		73	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	55/933,55/894,55/771	190660525	1,13005	2203	4300	6503	SO:0001587	stop_gained	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190660525C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.163C>T	2.37:g.190660525C>T	ENSP00000406490:p.Arg55*					PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Nonsense_Mutation_p.R55*|PMS1_uc002uri.4_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.3_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	p.R55*	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		2	692	+			55					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Nonsense_Mutation	SNP	ENST00000441310.2	37	c.163C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416745	0.96092	0.0	1.16E-4	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232;ENST00000420421	.	.	.	5.78	3.94	0.45596	.	0.058038	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1259	14.6752	0.68975	0.3959:0.6041:0.0:0.0	.	.	.	.	X	55	.	ENSP00000343888:R55X	R	+	1	2	PMS1	190368770	0.998000	0.40836	0.919000	0.36401	0.959000	0.62525	3.997000	0.57016	0.741000	0.32674	0.637000	0.83480	CGA		0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			T	190660525	C	T	190660525	4	4	195	1	0	0	0	0	0	1	0	0	12142	760	27	1	169	1	PMS1	2	190660525	Nonsense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	41440319	190660525	52538848	9	13745											
DYTN	391475	broad.mit.edu	37	chr2	207530695	207530695	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaaattctttcttcctGggaggtgtatatagcttgca	9	15	9	8	1	2	0	0	0	2	0	4	2	3	1	1	2	2	3	1	2	4	7	rs180718219	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:207530695G>A	ENST00000452335.2	-	10	1155	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	347						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTCTTCCTGGGAGGTGTAT	0.408													G|||	3	0.000599042	0	0	5008	,	,		20848	0.003		0	False		,,,				2504	0					uc002vbr.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(1039-1041)Cag>Tag		Homo sapiens dystrotelin (DYTN), mRNA.							230	203	211					2																	207530695		1833	4092	5925	SO:0001587	stop_gained	391475					plasma membrane	zinc ion binding	g.chr2:207530695G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1039C>T	2.37:g.207530695G>A	ENSP00000396593:p.Gln347*						p.Q347*	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	9	1156	-			347						Nonsense_Mutation	SNP	ENST00000452335.2	37	c.1039C>T	CCDS46502.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.50	3.636973	0.67130	.	.	ENSG00000232125	ENST00000452335	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-6.3928	13.7247	0.62750	0.0:0.0:1.0:0.0	.	.	.	.	X	347	.	ENSP00000396593:Q347X	Q	-	1	0	DYTN	207238940	1.000000	0.71417	0.991000	0.47740	0.101000	0.19017	3.070000	0.50033	2.695000	0.91970	0.555000	0.69702	CAG		0.408	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			A	207530695	G	A	207530695	4	1	195	1	0	0	0	0	0	1	0	0	4861	1357	47	3	709	3	DYTN	2	207530695	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	16870170	207530695	35668678	10	13746											
WNT10A	80326	broad.mit.edu	37	chr2	219745829	219745829	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctgctgccatgcccAggtgagccctcacctcatgc	5	9	11	16	0	2	1	2	1	0	0	2	1	2	1	4	2	6	3	4	2	0	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:219745829A>T	ENST00000258411.3	+	1	745	c.112A>T	c.(112-114)Agg>Tgg	p.R38W		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	38					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCATGCCCAGGTGAGCCCT	0.687																																						uc002vjd.1																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.e1+1		Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.							9	10	9					2																	219745829		2170	4283	6453	SO:0001630	splice_region_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219745829A>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.113+1A>T	2.37:g.219745829A>T							p.R38_splice	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	576	+		Renal(207;0.0474)	38					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.113_splice	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819788	0.71028	.	.	ENSG00000135925	ENST00000258411	T	0.76839	-1.05	3.75	2.56	0.30785	.	.	.	.	.	T	0.81128	0.4758	L	0.52573	1.65	0.48236	D	0.999614	D	0.89917	1.0	D	0.76575	0.988	T	0.76334	-0.2997	9	0.37606	T	0.19	.	6.9126	0.24342	0.7632:0.2368:0.0:0.0	.	38	Q9GZT5	WN10A_HUMAN	W	38	ENSP00000258411:R38W	ENSP00000258411:R38W	R	+	1	2	WNT10A	219454073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.884000	0.39668	0.493000	0.27837	0.454000	0.30748	AGG		0.687	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216	Missense_Mutation	T	219745829	A	T	219745829	5	4	195	1	0	0	0	0	0	0	1	0	17379	202	7	5	114	5	WNT10A	2	219745829	Splice_Site	SNP	A	TCGA-27-2524-01A-01D-1494-08	12215134	219745829	23453544	11	13747											
KCNJ13	3769	broad.mit.edu	37	chr2	233632952	233632952	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtcaatgctttgtccAttgatgtggatatccaggtc	10	15	9	7	0	1	1	1	1	0	0	4	2	3	2	2	2	1	1	2	2	3	4	rs570363677		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:233632952A>G	ENST00000233826.3	-	3	1171	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000409779.1_3'UTR|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Silent_p.N344N|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	344					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGCTTTGTCCATTGATGTGGA	0.383													A|||	1	0.000199681	0	0	5008	,	,		20865	0.001		0	False		,,,				2504	0					uc002vto.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(1030-1032)aaT>aaC		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.							122	122	122					2																	233632952		2203	4300	6503	SO:0001819	synonymous_variant	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233632952A>G	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.1032T>C	2.37:g.233632952A>G						GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Silent_p.N344N|KCNJ13_uc021vyk.1_Silent_p.N264N	p.N344N	NM_001172417	NP_001165888	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	1	1075	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	344					A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	37	c.1032T>C	CCDS2498.1																																																																																				0.383	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		G	233632952	A	G	233632952	2	3	195	1	0	0	0	0	0	0	0	1	8047	214	8	4		4	KCNJ13	2	233632952	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08	13887123	233632952	9566421	12	13748											
CAND2	23066	broad.mit.edu	37	chr3	12856711	12856711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctgccaagtgcatcGcagccttgatcagctcgcgg	7	7	14	13	3	1	1	1	1	0	0	3	1	1	1	2	2	5	5	2	2	1	1	rs199547028	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr3:12856711G>T	ENST00000456430.2	+	8	1119	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	CAND2_ENST00000295989.5_Missense_Mutation_p.A267S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	360					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAGTGCATCGCAGCCTTGAT	0.597																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1078-1080)Gca>Tca		Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.							55	63	60					3																	12856711		2149	4248	6397	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856711G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1078G>T	3.37:g.12856711G>T	ENSP00000387641:p.Ala360Ser					CAND2_uc003bxj.2_Missense_Mutation_p.A267S	p.A360S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			7	1127	+			360					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1078G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572198	0.28092	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07327	3.2;3.2	4.86	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.229694	0.33023	N	0.005378	T	0.06050	0.0157	N	0.25426	0.745	0.80722	D	1	B;B	0.20368	0.004;0.044	B;B	0.29353	0.008;0.101	T	0.30650	-0.9971	10	0.10111	T	0.7	-1.0575	9.1981	0.37240	0.1803:0.0:0.8197:0.0	.	360;267	O75155;O75155-2	CAND2_HUMAN;.	S	267;360	ENSP00000295989:A267S;ENSP00000387641:A360S	ENSP00000295989:A267S	A	+	1	0	CAND2	12831711	1.000000	0.71417	0.004000	0.12327	0.469000	0.32828	5.670000	0.68088	0.464000	0.27142	-0.254000	0.11334	GCA		0.597	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		T	12856711	G	T	12856711	3	4	195	1	0	0	0	0	1	0	0	0	2616	1087	38	5	1108	5	CAND2	3	12856711	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		12856711	185165719	13	13749											
SLC7A11	23657	broad.mit.edu	37	chr4	139100426	139100426	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catataataaagagataataCgcagggactccagtcagagt	17	8	9	7	1	1	2	1	0	0	2	2	4	2	3	1	1	1	1	1	1	6	5	rs145453312		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr4:139100426C>A	ENST00000280612.5	-	11	1668	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	463					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	AGAGATAATACGCAGGGACTC	0.423																																						uc021xrw.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(1387-1389)gcG>gcT		Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						70	68	69					4																	139100426		2203	4300	6503	SO:0001819	synonymous_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139100426C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1389G>T	4.37:g.139100426C>A							p.A463A	NM_014331	NP_055146	Q9UPY5	XCT_HUMAN			10	1669	-	all_hematologic(180;0.166)		463					A8K2U4	Silent	SNP	ENST00000280612.5	37	c.1389G>T	CCDS3742.1																																																																																				0.423	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			A	139100426	C	A	139100426	2	1	195	1	0	0	0	0	0	0	0	1	14694	523	19	5		5	SLC7A11	4	139100426	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08		139100426	52053850	14	13750											
CARD6	84674	broad.mit.edu	37	chr5	40843343	40843343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctcctggaataaaacagCctgaagcccctgagatcaca	13	9	7	12	0	2	2	1	2	1	1	3	4	2	3	4	1	3	0	4	1	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:40843343C>A	ENST00000254691.5	+	2	572	c.373C>A	c.(373-375)Cct>Act	p.P125T	CARD6_ENST00000381677.3_Missense_Mutation_p.P125T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	125					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATAAAACAGCCTGAAGCCCC	0.403																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(373-375)Cct>Act		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							53	56	55					5																	40843343		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843343C>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.373C>A	5.37:g.40843343C>A	ENSP00000254691:p.Pro125Thr						p.P125T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			1	448	+			125					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.373C>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471074	0.43942	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32272	2.67;1.46	5.33	3.42	0.39159	.	0.785759	0.11201	N	0.588858	T	0.24699	0.0599	L	0.34521	1.04	0.09310	N	1	D	0.56521	0.976	B	0.43990	0.438	T	0.11084	-1.0602	10	0.72032	D	0.01	-1.7824	6.5773	0.22573	0.0:0.7859:0.0:0.2141	.	125	Q9BX69	CARD6_HUMAN	T	125	ENSP00000254691:P125T;ENSP00000371093:P125T	ENSP00000254691:P125T	P	+	1	0	CARD6	40879100	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.138000	0.16016	1.495000	0.48549	-0.136000	0.14681	CCT		0.403	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40843343	C	A	40843343	3	1	195	1	0	0	0	0	1	0	0	0	2650	739	26	5	379	5	CARD6	5	40843343	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		40843343	140071917	15	13751											
HARS	3035	broad.mit.edu	37	chr5	140056309	140056309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccacacatggcaccttgCgccctttggggtcgaacatg	7	8	11	15	2	0	0	0	0	0	0	1	1	0	0	4	3	2	1	4	3	1	2	rs151258227		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140056309C>T	ENST00000504156.1	-	10	1843	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	HARS_ENST00000438307.2_Missense_Mutation_p.R335H|HARS_ENST00000448240.1_Missense_Mutation_p.R180H|HARS_ENST00000457527.2_Missense_Mutation_p.R355H|HARS_ENST00000431330.2_Missense_Mutation_p.R261H|HARS_ENST00000415192.2_Missense_Mutation_p.R301H|HARS_ENST00000307633.3_Missense_Mutation_p.R315H|HARS_ENST00000504366.1_Missense_Mutation_p.R306H	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	375				R -> L (in Ref. 3; BAG58213). {ECO:0000305}.	gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGGCACCTTGCGCCCTTTGGG	0.597																																						uc003lgv.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1123-1125)cGc>cAc		Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	L-Histidine(DB00117)	C	HIS/ARG	0,4406		0,0,2203	121	115	117		1124	4.8	1	5	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	HARS	NM_002109.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	375/510	140056309	1,13005	2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056309C>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1124G>A	5.37:g.140056309C>T	ENSP00000425634:p.Arg375His					HARS_uc003lgu.3_Missense_Mutation_p.R306H|HARS_uc011czm.2_Missense_Mutation_p.R335H|HARS_uc003lgw.3_Missense_Mutation_p.R355H|HARS_uc011czn.2_Missense_Mutation_p.R315H|HARS_uc011czo.2_Missense_Mutation_p.R301H|HARS_uc011czp.2_Missense_Mutation_p.R261H|HARS_uc011czq.2_Missense_Mutation_p.R265H	p.R375H	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1206	-			375					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1124G>A	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331294	0.41297	0.0	1.16E-4	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.64	4.78	0.61160	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.37507	1.11	0.80722	D	1	B;B;B;B;B;B;B	0.24368	0.018;0.032;0.003;0.102;0.004;0.013;0.008	B;B;B;B;B;B;B	0.20955	0.007;0.032;0.005;0.021;0.009;0.008;0.003	T	0.16041	-1.0416	10	0.32370	T	0.25	-0.0737	15.1869	0.73009	0.0:0.9322:0.0:0.0678	.	265;261;301;335;375;355;375	B4DEA2;B4E1C5;B4DDD8;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;SYHC_HUMAN	H	375;355;261;306;315;180;335;301;265	ENSP00000425634:R375H;ENSP00000387893:R355H;ENSP00000393244:R261H;ENSP00000430063:R306H;ENSP00000304668:R315H;ENSP00000413605:R180H;ENSP00000411511:R335H;ENSP00000411085:R301H;ENSP00000425889:R265H	ENSP00000304668:R315H	R	-	2	0	HARS	140036493	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	5.870000	0.69620	1.535000	0.49220	-0.217000	0.12591	CGC		0.597	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		T	140056309	C	T	140056309	3	4	195	1	0	0	0	0	1	0	0	0	6959	768	27	1	421	1	HARS	5	140056309	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	99212966	140056309	40858951	16	13752											
PCDHB13	56123	broad.mit.edu	37	chr5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactggatggtggctctcCgcccagatctggcactgctc	6	9	12	14	1	2	1	0	0	2	1	4	2	2	2	2	4	2	4	2	4	0	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140594357C>T	ENST00000341948.4	+	1	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P221L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532																																						uc003lja.1																			1	Substitution - Missense(1)	p.P221L(2)	ovary(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(661-663)cCg>cTg		Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.							97	104	102					5																	140594357		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594357C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.662C>T	5.37:g.140594357C>T	ENSP00000345491:p.Pro221Leu						p.P221L	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	849	+			221			Cadherin 2.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.662C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992937	0.93167	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00792	5.69	3.51	2.6	0.31112	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	H	0.95982	3.75	0.46478	D	0.999069	D	0.65815	0.995	D	0.71870	0.975	T	0.01162	-1.1432	9	0.66056	D	0.02	.	11.0844	0.48078	0.0:0.9018:0.0:0.0982	.	221	Q9Y5F0	PCDBD_HUMAN	L	221	ENSP00000345491:P221L	ENSP00000345491:P221L	P	+	2	0	PCDHB13	140574541	0.999000	0.42202	0.006000	0.13384	0.808000	0.45660	4.915000	0.63355	0.548000	0.28955	0.306000	0.20318	CCG		0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140594357	C	T	140594357	3	4	195	1	0	0	0	0	1	0	0	0	11538	652	23	2	664	2	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	538048	140594357	40320903	17	13753											
RREB1	6239	broad.mit.edu	37	chr6	7229251	7229251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgcgaaacaaacctgCggaggtgcatcagcgagcaa	12	5	13	11	3	1	0	1	0	0	0	1	3	1	1	2	3	7	2	2	3	3	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:7229251C>T	ENST00000349384.6	+	10	1233	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RREB1_ENST00000379933.3_Missense_Mutation_p.R307W|RREB1_ENST00000379938.2_Missense_Mutation_p.R307W|RREB1_ENST00000334984.6_Missense_Mutation_p.R307W	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	307					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACAAACCTGCGGAGGTGCAT	0.507																																						uc003mxb.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(919-921)Cgg>Tgg		Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.							78	60	66					6																	7229251		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229251C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.919C>T	6.37:g.7229251C>T	ENSP00000305560:p.Arg307Trp					RREB1_uc021yky.1_Missense_Mutation_p.R307W|RREB1_uc003mxc.3_Missense_Mutation_p.R307W|RREB1_uc010jnx.3_Missense_Mutation_p.R307W|RREB1_uc021ykz.1_Missense_Mutation_p.R307W|RREB1_uc021yla.1_Intron	p.R307W	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN			9	1411	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	307					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.919C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900556	0.72754	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.63;2.59;2.63;2.53;2.68	5.71	4.81	0.61882	.	0.000000	0.47093	D	0.000255	T	0.37785	0.1016	M	0.91354	3.2	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.991;1.0	T	0.42481	-0.9449	10	0.87932	D	0	-24.4462	13.7888	0.63126	0.2759:0.7241:0.0:0.0	.	307;307;307	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	W	307	ENSP00000369265:R307W;ENSP00000369270:R307W;ENSP00000305560:R307W;ENSP00000335574:R307W;ENSP00000419511:R307W	ENSP00000335574:R307W	R	+	1	2	RREB1	7174250	0.984000	0.35163	0.900000	0.35374	0.983000	0.72400	1.734000	0.38166	2.701000	0.92244	0.462000	0.41574	CGG		0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7229251	C	T	7229251	3	4	195	1	0	0	0	0	1	0	0	0	13679	759	27	1	945	1	RREB1	6	7229251	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		7229251	163885816	18	13754											
TDP2	51567	broad.mit.edu	37	chr6	24658115	24658115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacttcctgtagaaataTcacatctgggctgtacctaa	14	12	6	9	0	2	1	1	0	1	1	3	1	3	1	2	1	2	3	2	1	7	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:24658115T>C	ENST00000378198.4	-	4	612	c.442A>G	c.(442-444)Ata>Gta	p.I148V	TDP2_ENST00000545995.1_Missense_Mutation_p.I178V|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000341060.3_Missense_Mutation_p.I90V			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	148					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGTAGAAATATCACATCTGGG	0.313								Direct reversal of damage																														uc003nej.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(442-444)Ata>Gta	Direct reversal of damage	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.							83	90	87					6																	24658115		2203	4296	6499	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24658115T>C	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.442A>G	6.37:g.24658115T>C	ENSP00000367440:p.Ile148Val					TDP2_uc010jpu.1_Missense_Mutation_p.I148V	p.I148V	NM_016614	NP_057698	O95551	TYDP2_HUMAN			3	467	-			148					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.442A>G	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	T	2.390	-0.340122	0.05243	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.79033	-1.23;-1.23;-1.23	6.04	-10.3	0.00346	Endonuclease/exonuclease/phosphatase (2);	0.415439	0.28241	N	0.016070	T	0.17831	0.0428	N	0.00493	-1.44	0.27847	N	0.940897	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42582	-0.9443	10	0.02654	T	1	-20.6792	25.1668	0.99993	0.0:0.9086:0.0:0.0914	.	178;148	O95551-2;O95551	.;TYDP2_HUMAN	V	148;178;70;90	ENSP00000367440:I148V;ENSP00000437637:I178V;ENSP00000345345:I90V	ENSP00000345345:I90V	I	-	1	0	TDP2	24766094	0.078000	0.21339	0.154000	0.22540	0.775000	0.43874	-0.106000	0.10890	-2.496000	0.00513	-1.436000	0.01078	ATA		0.313	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			C	24658115	T	C	24658115	3	2	195	1	0	0	0	0	1	0	0	0	15726	1435	50	4	662	4	TDP2	6	24658115	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	17428864	24658115	146456952	19	13755											
MDC1	9656	broad.mit.edu	37	chr6	30671570	30671570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctccggggtgaacctaGatctacctgctggttccacc	7	9	12	13	1	1	2	0	1	1	1	3	3	3	3	5	4	4	3	5	4	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:30671570G>A	ENST00000376406.3	-	10	6037	c.5390C>T	c.(5389-5391)tCt>tTt	p.S1797F	MDC1_ENST00000376405.2_Missense_Mutation_p.S1533F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1797	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGTGAACCTAGATCTACCTGC	0.537								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5389-5391)tCt>tTt	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							121	110	114					6																	30671570		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671570G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5390C>T	6.37:g.30671570G>A	ENSP00000365588:p.Ser1797Phe					MDC1_uc003nrf.4_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	p.S1797F	NM_014641	NP_055456	Q14676	MDC1_HUMAN			9	5830	-			1797			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5390C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591912	0.28357	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05717	3.4;3.4	5.36	2.54	0.30619	.	0.893166	0.09115	N	0.846543	T	0.02888	0.0086	M	0.70275	2.135	0.09310	N	1	B;B;B	0.29432	0.244;0.085;0.009	B;B;B	0.26202	0.067;0.017;0.016	T	0.44034	-0.9354	10	0.62326	D	0.03	-0.0356	4.8086	0.13331	0.1785:0.0:0.6326:0.1888	.	1533;1797;774	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	F	1797;1533;1510;1363	ENSP00000365588:S1797F;ENSP00000365587:S1533F	ENSP00000365587:S1533F	S	-	2	0	MDC1	30779549	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.511000	0.22739	0.297000	0.22615	0.555000	0.69702	TCT		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30671570	G	A	30671570	3	1	195	1	0	0	0	0	1	0	0	0	9403	942	33	3	903	3	MDC1	6	30671570	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	6013455	30671570	140443497	20	13756											
PMS2	5395	broad.mit.edu	37	chr7	6026906	6026906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaatccacggaagtgctgCcgtgccccgagtccttctcc	7	8	10	16	3	1	1	0	0	1	1	4	3	3	2	6	1	3	1	6	1	2	1	rs199739859		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:6026906C>T	ENST00000265849.7	-	11	1595	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.G391D|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G497D	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	497					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGAAGTGCTGCCGTGCCCCGA	0.632			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.3			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1489-1491)gGc>gAc	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.							63	66	65					7																	6026906		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026906C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1490G>A	7.37:g.6026906C>T	ENSP00000265849:p.Gly497Asp					PMS2_uc003spj.3_Missense_Mutation_p.G391D|PMS2_uc003spk.3_Missense_Mutation_p.G362D|PMS2_uc011jwl.2_Missense_Mutation_p.G362D|PMS2_uc010ktg.3_Missense_Mutation_p.G186D|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.G497D	p.G497D	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1577	-		Ovarian(82;0.0694)	497					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1490G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	10.16	1.273726	0.23221	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.86865	1.16;1.16;-2.18	5.95	3.14	0.36123	.	1.048100	0.07338	N	0.880374	T	0.80226	0.4584	L	0.29908	0.895	0.27060	N	0.96359	P;P;B	0.46142	0.873;0.611;0.057	B;B;B	0.42282	0.382;0.118;0.055	T	0.63695	-0.6579	10	0.12766	T	0.61	-0.1349	9.339	0.38067	0.0:0.7497:0.1203:0.13	.	497;497;391	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	D	497;450;391;497	ENSP00000265849:G497D;ENSP00000392843:G391D;ENSP00000384308:G497D	ENSP00000265849:G497D	G	-	2	0	PMS2	5993432	0.905000	0.30787	0.077000	0.20336	0.024000	0.10985	2.404000	0.44539	0.403000	0.25479	-0.145000	0.13849	GGC		0.632	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		T	6026906	C	T	6026906	3	4	195	1	0	0	0	0	1	0	0	0	12143	739	26	3	1118	3	PMS2	7	6026906	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		6026906	153111757	21	13757											
TARP	6966	broad.mit.edu	37	chr7	38305013	38305013	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattattctcatgtctgaCgatacatctgtgttctttgt	7	21	6	7	1	4	1	1	1	4	0	5	2	4	1	0	0	1	1	0	0	3	7	rs200517170		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:38305013C>T	ENST00000443402.2	-	0	266					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCATGTCTGACGATACATCTG	0.393																																						uc003tge.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(694-696)Gtc>Atc		Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							171	161	164					7																	38305013		1838	4108	5946			445347					cytoplasm	nucleic acid binding	g.chr7:38305013C>T	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"T cell receptors / TRG locus"	12275	other	T cell receptor gene	"T-cell receptor, gamma, constant region C1"	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305013C>T						ARPP21_uc022aby.1_Missense_Mutation_p.V28I|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.V28I|ARPP21_uc003tgc.1_Missense_Mutation_p.V28I|ARPP21_uc003tgd.1_Missense_Mutation_p.V28I|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript	p.V232I			Q9UBL0	ARP21_HUMAN			4	1071	-			0						Missense_Mutation	SNP	ENST00000443402.2	37	c.694G>A																																																																																					0.393	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		T	38305013	C	T	38305013	1	4	195	0	1	0	0	0	0	0	0	0	15555	536	19	1		1	TARP	7	38305013	RNA	SNP	C	TCGA-27-2524-01A-01D-1494-08	32278107	38305013	120833650	22	13758											
PCLO	27445	broad.mit.edu	37	chr7	82584287	82584287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatctgttctgaaagTcttatcttttgctctcttcc	8	19	4	10	0	6	1	1	1	5	0	8	1	7	1	1	0	1	2	1	0	4	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:82584287T>C	ENST00000333891.9	-	5	6319	c.5982A>G	c.(5980-5982)agA>agG	p.R1994R	PCLO_ENST00000423517.2_Silent_p.R1994R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCTGAAAGTCTTATCTTTT	0.388																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5980-5982)agA>agG		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							127	130	129					7																	82584287		1856	4091	5947	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584287T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5982A>G	7.37:g.82584287T>C						PCLO_uc003uhv.2_Silent_p.R1994R	p.R1994R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	6271	-			1925						Silent	SNP	ENST00000333891.9	37	c.5982A>G	CCDS47630.1																																																																																				0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82584287	T	C	82584287	2	2	195	1	0	0	0	0	0	0	0	1	11583	1664	58	4		4	PCLO	7	82584287	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	44279274	82584287	76554376	23	13759											
TRRAP	8295	broad.mit.edu	37	chr7	98509724	98509724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaatatctccttgatcGcctgccagaaatgggctcca	9	10	11	11	1	1	2	0	1	1	1	4	3	2	3	4	3	1	1	4	3	3	2	rs200324989		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:98509724G>A	ENST00000359863.4	+	18	2296	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	TRRAP_ENST00000446306.3_Missense_Mutation_p.R695H|TRRAP_ENST00000355540.3_Missense_Mutation_p.R696H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	696					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTTGATCGCCTGCCAGAA	0.468																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2086-2088)cGc>cAc		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	199	177	184		2087	5.7	1	7		184	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRRAP	NM_003496.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	696/3831	98509724	1,13005	2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98509724G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2087G>A	7.37:g.98509724G>A	ENSP00000352925:p.Arg696His					TRRAP_uc011kis.2_Missense_Mutation_p.R696H|TRRAP_uc003upr.3_Missense_Mutation_p.R388H	p.R696H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	2296	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		696					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2087G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.345451|5.345451	0.95807|0.95807	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03663	.|3.85;3.86	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15046|0.15046	0.0363|0.0363	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.95;0.95	T|T	0.00114|0.00114	-1.2041|-1.2041	5|10	.|0.62326	.|D	.|0.03	.|.	19.8247|19.8247	0.96612|0.96612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|696;410;696	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|H	411|696;696;694	.|ENSP00000352925:R696H;ENSP00000347733:R696H	.|ENSP00000347733:R696H	A|R	+|+	1|2	0|0	TRRAP|TRRAP	98347660|98347660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.468	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98509724	G	A	98509724	3	1	195	1	0	0	0	0	1	0	0	0	16598	1087	38	1	2153	1	TRRAP	7	98509724	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	15925437	98509724	60628939	24	13760											
PLOD3	8985	broad.mit.edu	37	chr7	100852149	100852149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcatgccggccgccTgaccactggccgtagtgctc	5	9	10	17	3	1	1	1	1	0	0	2	1	1	1	6	2	3	2	6	2	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:100852149T>C	ENST00000223127.3	-	16	2171	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	591					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGCCGCCTGACCACTGGC	0.582																																						uc003uyd.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1771-1773)tcA>tcG		Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	Succinic acid(DB00139)|Vitamin C(DB00126)						83	68	73					7																	100852149		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100852149T>C	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1773A>G	7.37:g.100852149T>C							p.S591S	NM_001084	NP_001075	O60568	PLOD3_HUMAN			15	2229	-	Lung NSC(181;0.168)|all_lung(186;0.215)		591					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.1773A>G	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	9.174	1.021789	0.19433	.	.	ENSG00000106397	ENST00000454310	.	.	.	4.36	-1.29	0.09288	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32079	-0.9920	4	.	.	.	-20.5468	1.079	0.01638	0.4472:0.1054:0.1483:0.2991	.	.	.	.	R	166	.	.	Q	-	2	0	PLOD3	100638869	0.030000	0.19436	0.999000	0.59377	0.827000	0.46813	-0.953000	0.03877	0.159000	0.19401	0.459000	0.35465	CAG		0.582	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			C	100852149	T	C	100852149	2	2	195	1	0	0	0	0	0	0	0	1	12103	1567	55	4		4	PLOD3	7	100852149	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	2342425	100852149	58286514	25	13761											
KIAA1549	57670	broad.mit.edu	37	chr7	138603251	138603251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttagatgaaacatcagttGgtgaagcagaggacgcaaat	15	8	13	5	1	1	4	1	2	0	2	1	5	1	5	0	3	2	4	0	3	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:138603251G>A	ENST00000422774.1	-	2	1169	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P374L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P324L			Q9HCM3	K1549_HUMAN	KIAA1549	374						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACATCAGTTGGTGAAGCAGA	0.507			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1120-1122)cCa>cTa		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							133	139	137					7																	138603251		2110	4229	6339	SO:0001583	missense	57670					integral to membrane		g.chr7:138603251G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1121C>T	7.37:g.138603251G>A	ENSP00000416040:p.Pro374Leu					KIAA1549_uc011kqj.2_Missense_Mutation_p.P374L	p.P374L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN			1	1170	-			374					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1121C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897654	0.17686	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.93;1.93;1.93	4.84	2.05	0.26809	.	1.337120	0.05082	N	0.483763	T	0.16471	0.0396	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.28522	-1.0041	10	0.33141	T	0.24	.	7.4294	0.27118	0.2734:0.0:0.7266:0.0	.	374;374	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	374;324;374	ENSP00000406661:P374L;ENSP00000242365:P324L;ENSP00000416040:P374L	ENSP00000242365:P324L	P	-	2	0	KIAA1549	138253791	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.366000	0.34193	0.253000	0.21552	-0.142000	0.14014	CCA		0.507	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			A	138603251	G	A	138603251	3	1	195	1	0	0	0	0	1	0	0	0	8244	1348	47	3	4807	3	KIAA1549	7	138603251	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	37751102	138603251	20535412	26	13762											
TRPV5	56302	broad.mit.edu	37	chr7	142609825	142609825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatcaataacagtgagAaaaagctcaaaggtggtgaa	17	7	12	5	0	2	2	2	2	0	1	2	3	2	2	0	3	3	2	0	3	6	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:142609825A>G	ENST00000265310.1	-	13	1959	c.1611T>C	c.(1609-1611)ttT>ttC	p.F537F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	537					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAACAGTGAGAAAAAGCTCAA	0.502																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1609-1611)ttT>ttC		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							202	171	181					7																	142609825		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609825A>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1611T>C	7.37:g.142609825A>G							p.F537F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			12	1875	-	Melanoma(164;0.059)		537					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.1611T>C	CCDS5875.1																																																																																				0.502	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		G	142609825	A	G	142609825	2	3	195	1	0	0	0	0	0	0	0	1	16596	243	9	4		4	TRPV5	7	142609825	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08	4006574	142609825	16528838	27	13763											
ACCN3	9311	broad.mit.edu	37	chr7	150749681	150749681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctcccacccctccctgtgCcgtcaccaagactctctccg	6	8	5	22	2	2	1	1	0	1	1	6	1	5	1	8	0	1	0	8	0	1	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:150749681C>T	ENST00000349064.5	+	11	1736	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ASIC3_ENST00000357922.4_Silent_p.C493C|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	513					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTCCCTGTGCCGTCACCAAG	0.632																																						uc003wio.2																			0											c.(1558-1560)Ccg>Tcg		Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.							182	130	148					7																	150749681		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150749681C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1538C>T	7.37:g.150749681C>T	ENSP00000344838:p.Ala513Val					ASIC3_uc003win.2_Missense_Mutation_p.A513V|ASIC3_uc003wip.2_Silent_p.C493C|ASIC3_uc003wiq.2_Non-coding_Transcript	p.P520S	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN			10	1926	+			508					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1558C>T	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.808|6.808	0.518163|0.518163	0.13005|0.13005	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000349064|ENST00000297512	T|T	0.67345|0.63913	-0.26|-0.07	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|.	.|.	.|.	.|.	T|T	0.41673|0.41673	0.1169|0.1169	.|.	.|.	.|.	0.23727|0.23727	N|N	0.997001|0.997001	B|B	0.23377|0.30281	0.084|0.275	B|B	0.24155|0.25405	0.051|0.06	T|T	0.10154|0.10154	-1.0642|-1.0642	8|8	0.41790|0.11485	T|T	0.15|0.65	-1.0939|-1.0939	13.0963|13.0963	0.59195|0.59195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	513|520	Q9UHC3|Q9UHC3-3	ACCN3_HUMAN|.	V|S	513|520	ENSP00000344838:A513V|ENSP00000297512:P520S	ENSP00000344838:A513V|ENSP00000297512:P520S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150380614|150380614	0.004000|0.004000	0.15560|0.15560	0.766000|0.766000	0.31476|0.31476	0.283000|0.283000	0.27025|0.27025	1.161000|1.161000	0.31773|0.31773	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		T	150749681	C	T	150749681	3	4	195	1	0	0	0	0	1	0	0	0	130	748	26	3	1600	3	ACCN3	7	150749681	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	8139856	150749681	8388982	28	13764											
ECM2	1842	broad.mit.edu	37	chr9	95263237	95263237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagccagggatccgttcaAtctggttcccaaggagtact	10	10	10	11	1	2	0	1	0	1	0	4	2	4	2	3	3	2	3	3	3	4	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr9:95263237A>G	ENST00000344604.5	-	9	1852	c.1703T>C	c.(1702-1704)aTt>aCt	p.I568T	ECM2_ENST00000444490.2_Missense_Mutation_p.I546T|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	568					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATCCGTTCAATCTGGTTCCC	0.478																																						uc011lty.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1702-1704)aTt>aCt		Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.							152	135	141					9																	95263237		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95263237A>G	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1703T>C	9.37:g.95263237A>G	ENSP00000344758:p.Ile568Thr					CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.I546T|ECM2_uc004asg.3_Missense_Mutation_p.I546T|ECM2_uc010mqz.2_5'UTR	p.I568T	NM_001393	NP_001384	O94769	ECM2_HUMAN			8	1890	-			568					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.1703T>C	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078591	0.76528	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.30448	1.53;5.11	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.81245	-0.1020	10	0.87932	D	0	.	15.6503	0.77088	1.0:0.0:0.0:0.0	.	568;546;546	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	546;568	ENSP00000393971:I546T;ENSP00000344758:I568T	ENSP00000344758:I568T	I	-	2	0	ECM2	94303058	1.000000	0.71417	0.997000	0.53966	0.830000	0.47004	8.923000	0.92808	2.161000	0.67846	0.482000	0.46254	ATT		0.478	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		G	95263237	A	G	95263237	3	3	195	1	0	0	0	0	1	0	0	0	4898	101	4	4	404	4	ECM2	9	95263237	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08		95263237	45950194	29	13765											
KIAA1217	56243	broad.mit.edu	37	chr10	24832950	24832950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaagaagcaactcgccgCtctcactcaagccattcgca	11	7	6	17	3	2	1	2	0	1	1	5	1	2	1	3	0	3	3	3	0	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:24832950C>A	ENST00000376454.3	+	19	4781	c.4751C>A	c.(4750-4752)gCt>gAt	p.A1584D	KIAA1217_ENST00000376451.2_Missense_Mutation_p.A1267D|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1584					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAACTCGCCGCTCTCACTCAA	0.473																																						uc001iru.4																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(4750-4752)gCt>gAt		Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.							85	91	89					10																	24832950		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832950C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4751C>A	10.37:g.24832950C>A	ENSP00000365637:p.Ala1584Asp					KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.A1267D|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.A420D	p.A1584D	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			18	5154	+			1584					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4751C>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371164	0.82573	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.57595	0.83;0.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74636	-0.3599	10	0.66056	D	0.02	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	1267;1267;1584	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	D	1267;1584;1267;1267	ENSP00000365637:A1584D;ENSP00000365634:A1267D	ENSP00000365634:A1267D	A	+	2	0	KIAA1217	24872956	1.000000	0.71417	0.967000	0.41034	0.824000	0.46624	7.436000	0.80404	2.495000	0.84180	0.561000	0.74099	GCT		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		A	24832950	C	A	24832950	3	1	195	1	0	0	0	0	1	0	0	0	8216	797	28	5	4825	5	KIAA1217	10	24832950	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		24832950	110701797	30	13766											
AGAP7	653268	broad.mit.edu	37	chr10	51464835	51464835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggaacggatccaccgttCcttctcttccctcgtggact	5	14	8	14	3	1	0	0	0	1	0	6	3	4	3	4	3	1	1	4	3	1	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:51464835C>T	ENST00000374095.5	-	7	1746	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		541	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572																																						uc001jio.3																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1621-1623)Gaa>Aaa		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.							107	129	121					10																	51464835		2197	4296	6493	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51464835C>T																												ENST00000374095.5:c.1621G>A	10.37:g.51464835C>T	ENSP00000363208:p.Glu541Lys					PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	p.E541K	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			6	1747	-			541			Arf-GAP.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1621G>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.852534	0.51270	.	.	ENSG00000204169	ENST00000374095	T	0.42513	0.97	.	.	.	.	0.280844	0.37715	N	0.001974	T	0.60025	0.2237	M	0.83852	2.665	0.52501	D	0.999955	D	0.76494	0.999	D	0.97110	1.0	T	0.58154	-0.7686	9	0.87932	D	0	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	541	Q5VUJ5	AGAP7_HUMAN	K	541	ENSP00000363208:E541K	ENSP00000363208:E541K	E	-	1	0	AGAP7	51134841	1.000000	0.71417	0.036000	0.18154	0.036000	0.12997	5.054000	0.64275	0.172000	0.19760	0.175000	0.17021	GAA		0.572	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			T	51464835	C	T	51464835	3	4	195	1	0	0	0	0	1	0	0	0	373	864	30	3	374	3	AGAP7	10	51464835	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	26631885	51464835	84069912	31	13767											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292|rs121909224		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141	131	134					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692904	C	T	89692904	4	4	195	1	0	0	0	0	0	1	0	0	12738	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	38228069	89692904	45841843	32	13768											
OR51B2	79345	broad.mit.edu	37	chr11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtcaaacccatcactGtaacatagaagataagaaca	19	8	6	8	0	2	4	2	1	0	3	2	4	2	4	1	0	3	1	1	0	7	3	rs200357780		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5344773G>A	ENST00000328813.2	-	1	809	c.755C>T	c.(754-756)aCa>aTa	p.T252I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCATCACTGTAACATAGAA	0.393																																						uc001mao.1																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(754-756)aCa>aTa		Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.		G	ILE/THR	0,4402		0,0,2201	102	94	97		755	3.4	0	11		97	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B2	NM_033180.4	89	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	252/313	5344773	1,12995	2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344773G>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.755C>T	11.37:g.5344773G>A	ENSP00000327540:p.Thr252Ile					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.T252I	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	810	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	252					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.755C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099589	0.20552	0.0	1.16E-4	ENSG00000184881	ENST00000328813	T	0.00289	8.28	4.27	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.195332	0.24774	U	0.035710	T	0.00666	0.0022	M	0.89715	3.055	0.09310	N	1	D	0.54397	0.966	P	0.58928	0.848	T	0.19778	-1.0295	10	0.87932	D	0	.	10.8854	0.46964	0.0927:0.0:0.9073:0.0	.	252	Q9Y5P1	O51B2_HUMAN	I	252	ENSP00000327540:T252I	ENSP00000327540:T252I	T	-	2	0	OR51B2	5301349	0.431000	0.25546	0.005000	0.12908	0.001000	0.01503	3.992000	0.56980	1.047000	0.40274	0.638000	0.83543	ACA		0.393	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		A	5344773	G	A	5344773	3	1	195	1	0	0	0	0	1	0	0	0	11089	1377	48	3	187	3	OR51B2	11	5344773	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		5344773	129661743	33	13769											
OR52D1	390066	broad.mit.edu	37	chr11	5510785	5510785	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatctttctggctaatctCtatgtgctggtgcctcctgt	5	16	8	12	0	3	0	0	0	3	0	5	0	4	0	2	2	2	2	2	2	2	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5510785C>G	ENST00000322641.5	+	1	871	c.849C>G	c.(847-849)ctC>ctG	p.L283L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	283					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTAATCTCTATGTGCTGG	0.493																																						uc010qzg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(847-849)ctC>ctG		Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.							118	105	109					11																	5510785		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510785C>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.849C>G	11.37:g.5510785C>G						HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.L283L	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	871	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	283					B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.849C>G	CCDS31384.1																																																																																				0.493	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		G	5510785	C	G	5510785	2	3	195	1	0	0	0	0	0	0	0	1	11114	900	32	5		5	OR52D1	11	5510785	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08	166012	5510785	129495731	34	13770											
SLC17A6	57084	broad.mit.edu	37	chr11	22363249	22363249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctccttcggtatcCgctgcaacctgggcgtggcc	4	11	11	15	3	2	0	0	0	2	0	5	0	3	0	4	3	3	4	4	3	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:22363249C>A	ENST00000263160.3	+	2	699	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	88					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTCGGTATCCGCTGCAACCT	0.642																																						uc001mqk.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(262-264)Cgc>Agc		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.							74	61	65					11																	22363249		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363249C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.262C>A	11.37:g.22363249C>A	ENSP00000263160:p.Arg88Ser						p.R88S	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			1	675	+			88					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.262C>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576665	0.96565	.	.	ENSG00000091664	ENST00000263160	T	0.60040	0.22	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84786	0.5549	H	0.96015	3.755	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88780	0.3270	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	88	Q9P2U8	VGLU2_HUMAN	S	88	ENSP00000263160:R88S	ENSP00000263160:R88S	R	+	1	0	SLC17A6	22319825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGC		0.642	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		A	22363249	C	A	22363249	3	1	195	1	0	0	0	0	1	0	0	0	14421	652	23	5	268	5	SLC17A6	11	22363249	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	16852464	22363249	112643267	35	13771											
CD5	921	broad.mit.edu	37	chr11	60885944	60885944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtcactctctgggcctgaCctgcttaggtgggtaactag	6	12	13	10	0	2	1	1	1	1	0	3	1	2	1	2	3	2	2	2	3	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:60885944C>A	ENST00000347785.3	+	3	558	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	131	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGGGCCTGACCTGCTTAGGT	0.607																																						uc009ynk.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(391-393)aCc>aAc		Homo sapiens CD5 molecule (CD5), mRNA.							101	95	97					11																	60885944		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885944C>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.392C>A	11.37:g.60885944C>A	ENSP00000342681:p.Thr131Asn						p.T131N	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	2	495	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	131			SRCR 1.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.392C>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516197	0.27123	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.37058	1.22;1.22	3.85	2.63	0.31362	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.005840	0.08000	N	0.988657	T	0.30854	0.0778	N	0.14661	0.345	0.26550	N	0.973934	P	0.44578	0.838	P	0.50082	0.63	T	0.22068	-1.0227	10	0.62326	D	0.03	-12.4868	5.945	0.19213	0.0:0.1193:0.0:0.8807	.	131	P06127	CD5_HUMAN	N	131	ENSP00000342681:T131N;ENSP00000440899:T131N	ENSP00000342681:T131N	T	+	2	0	CD5	60642520	0.874000	0.30092	0.949000	0.38748	0.186000	0.23388	0.976000	0.29462	0.830000	0.34757	-0.290000	0.09829	ACC		0.607	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		A	60885944	C	A	60885944	3	1	195	1	0	0	0	0	1	0	0	0	3021	507	18	5	402	5	CD5	11	60885944	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	38522695	60885944	74120572	36	13772											
OR2AT4	341152	broad.mit.edu	37	chr11	74799893	74799893	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaaatgagggggttgagaAttggtgtgagaatggcatat	12	12	16	1	0	0	3	0	3	0	2	0	5	0	3	0	4	0	3	0	4	5	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:74799893A>T	ENST00000305159.3	-	1	906	c.866T>A	c.(865-867)aTt>aAt	p.I289N		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGTTGAGAATTGGTGTGAG	0.488																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(865-867)aTt>aAt		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							152	132	139					11																	74799893		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74799893A>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.866T>A	11.37:g.74799893A>T	ENSP00000304846:p.Ile289Asn						p.I289N	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			0	866	-			289					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.866T>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908506	0.52333	.	.	ENSG00000171561	ENST00000305159	T	0.38560	1.13	5.09	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40372	0.1114	L	0.38175	1.15	0.09310	N	1	P	0.45428	0.858	P	0.48114	0.567	T	0.23476	-1.0187	9	0.87932	D	0	.	8.5703	0.33565	0.9083:0.0:0.0917:0.0	.	289	A6NND4	O2AT4_HUMAN	N	289	ENSP00000304846:I289N	ENSP00000304846:I289N	I	-	2	0	OR2AT4	74477541	0.025000	0.19082	0.887000	0.34795	0.966000	0.64601	2.885000	0.48570	2.038000	0.60285	0.533000	0.62120	ATT		0.488	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		T	74799893	A	T	74799893	3	4	195	1	0	0	0	0	1	0	0	0	10987	101	4	5	99	5	OR2AT4	11	74799893	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	13913949	74799893	60206623	37	13773											
MLL	4297	broad.mit.edu	37	chr11	118382698	118382698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cattgacagataaagtccagGaagctcgatcaaatgcccgc	14	7	9	11	2	1	2	1	1	0	1	3	4	2	3	2	1	2	1	2	1	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:118382698G>C	ENST00000389506.5	+	31	11095	c.11095G>C	c.(11095-11097)Gaa>Caa	p.E3699Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.E3702Q|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3661Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3699	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TAAAGTCCAGGAAGCTCGATC	0.418																																						uc001pta.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(11095-11097)Gaa>Caa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.							104	97	100					11																	118382698		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118382698G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11095G>C	11.37:g.118382698G>C	ENSP00000374157:p.Glu3699Gln					MLL_uc001ptb.3_Missense_Mutation_p.E3702Q	p.E3699Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	30	11118	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3699			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11095G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160512	0.78226	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.46819	0.86;0.86;0.86	5.57	5.57	0.84162	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.62016	1.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69829	-0.5039	10	0.72032	D	0.01	.	19.5603	0.95369	0.0:0.0:1.0:0.0	.	3702;3699	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3702;3699;3661;2609	ENSP00000436786:E3702Q;ENSP00000374157:E3699Q;ENSP00000346516:E3661Q	ENSP00000346516:E3661Q	E	+	1	0	MLL	117887908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.411000	0.80078	2.637000	0.89404	0.650000	0.86243	GAA		0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118382698	G	C	118382698	3	2	195	1	0	0	0	0	1	0	0	0	9620	1175	41	5	11217	5	MLL	11	118382698	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	43582805	118382698	16623818	38	13774											
OR8G2	0	broad.mit.edu	37	chr11	124095935	124095935	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggctttatgttgagactcTttttgtgcaagactaatgtg	8	16	10	7	1	1	2	0	1	1	2	1	3	1	2	1	1	1	3	1	1	3	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:124095935T>C								OR10D3 (38983 upstream) : OR8G1 (24487 downstream)																							GTTGAGACTCTTTTTGTGCAA	0.428																																						uc010saf.2																			0											c.(538-540)Ttt>Ctt		Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.							260	267	265					11																	124095935		2001	4210	6211	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095935T>C																													11.37:g.124095935T>C							p.F180L	NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	538	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	180						Missense_Mutation	SNP		37	c.538T>C																																																																																				0	0.428									C	124095935	T	C	124095935	1	2	195	0	1	0	0	0	0	0	0	0	11235	1609	56	4		4	OR8G2	11	124095935	IGR	SNP	T	TCGA-27-2524-01A-01D-1494-08	5713237	124095935	10910581	39	13775											
ERP27	121506	broad.mit.edu	37	chr12	15073953	15073953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgctttcaatgtcttcGtcctctaaattcagttgttc	8	18	5	10	1	5	0	3	0	2	0	8	0	6	0	1	0	1	3	1	0	4	6	rs199978046	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:15073953G>A	ENST00000266397.2	-	4	936	c.363C>T	c.(361-363)gaC>gaT	p.D121D	ERP27_ENST00000540097.1_Silent_p.D20D	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	121	Thioredoxin.					endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CAATGTCTTCGTCCTCTAAAT	0.378													G|||	3	0.000599042	0	0	5008	,	,		20609	0.001		0	False		,,,				2504	0.002					uc001rco.3																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(361-363)gaC>gaT		Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.		G		0,4406		0,0,2203	261	224	237		363	-9.4	0	12		237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERP27	NM_152321.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		121/274	15073953	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121506					endoplasmic reticulum lumen		g.chr12:15073953G>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.363C>T	12.37:g.15073953G>A							p.D121D	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			3	384	-			121			Thioredoxin.			Silent	SNP	ENST00000266397.2	37	c.363C>T	CCDS8670.1																																																																																				0.378	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		A	15073953	G	A	15073953	2	1	195	1	0	0	0	0	0	0	0	1	5241	1136	40	1		1	ERP27	12	15073953	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		15073953	118777942	40	13776											
LST-3TM12	338821	broad.mit.edu	37	chr12	21175884	21175884	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagtaccattggggatttcTtacattgatgattttgcaaa	12	16	8	5	0	1	2	0	2	1	0	1	3	1	3	1	2	3	2	1	2	4	8			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:21175884T>C	ENST00000421593.2	+	4	441	c.441T>C	c.(439-441)tcT>tcC	p.S147S	LST3_ENST00000381541.3_Silent_p.S194S|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.S194S|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGGGATTTCTTACATTGATG	0.383																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							121	119	120					12																	21175884		2203	4299	6502	SO:0001819	synonymous_variant	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21175884T>C	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.441T>C	12.37:g.21175884T>C						SLCO1B3_uc010sim.2_Silent_p.S194S|SLCO1B3_uc010sin.2_Silent_p.S147S				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Silent	SNP	ENST00000421593.2	37		CCDS44843.1																																																																																				0.383	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		C	21175884	T	C	21175884	2	2	195	1	0	0	0	0	0	0	0	1	9066	1596	56	4		4	LST-3TM12	12	21175884	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	6101931	21175884	112676011	41	13777											
ABCD2	225	broad.mit.edu	37	chr12	40012546	40012546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgagtgcacataccgcaaaTagccttttctatgtgcttcc	9	13	7	12	2	1	0	0	0	1	0	3	1	2	0	3	0	4	3	3	0	4	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:40012546T>C	ENST00000308666.3	-	1	1007	c.872A>G	c.(871-873)tAt>tGt	p.Y291C		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	291	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATACCGCAAATAGCCTTTTCT	0.413																																						uc001rmb.2																			0		p.G290G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(871-873)tAt>tGt		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.							122	118	120					12																	40012546		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012546T>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.872A>G	12.37:g.40012546T>C	ENSP00000310688:p.Tyr291Cys						p.Y291C	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			0	1298	-			291			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.872A>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767117	0.31320	.	.	ENSG00000173208	ENST00000308666	D	0.99607	-6.27	5.52	5.52	0.82312	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.062950	0.64402	D	0.000003	D	0.98975	0.9651	M	0.78916	2.43	0.48185	D	0.999606	B	0.24426	0.103	B	0.27076	0.076	D	0.99971	1.2007	9	.	.	.	-13.0921	15.6346	0.76941	0.0:0.0:0.0:1.0	.	291	Q9UBJ2	ABCD2_HUMAN	C	291	ENSP00000310688:Y291C	.	Y	-	2	0	ABCD2	38298813	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.758000	0.55220	2.093000	0.63338	0.460000	0.39030	TAT		0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		C	40012546	T	C	40012546	3	2	195	1	0	0	0	0	1	0	0	0	61	1406	49	4	1390	4	ABCD2	12	40012546	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	18836662	40012546	93839349	42	13778											
AMHR2	269	broad.mit.edu	37	chr12	53823327	53823327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgccattggagacctggGccttgccttggtgctccctg	3	12	14	12	0	0	1	0	0	0	1	1	2	1	1	5	3	3	1	5	3	0	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:53823327G>A	ENST00000257863.4	+	8	1138	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	AMHR2_ENST00000550311.1_Missense_Mutation_p.G353D|AMHR2_ENST00000379791.3_Missense_Mutation_p.G353D	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGAGACCTGGGCCTTGCCTTG	0.572																																						uc001scx.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1057-1059)gGc>gAc		Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						104	92	96					12																	53823327		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823327G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1058G>A	12.37:g.53823327G>A	ENSP00000257863:p.Gly353Asp					AMHR2_uc009zmy.2_Missense_Mutation_p.G353D|AMHR2_uc021qyg.1_Missense_Mutation_p.G353D	p.G353D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			7	1138	+			353			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1058G>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520332	0.85495	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.99527	-6.09;-6.09;-6.09	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001140	D	0.99573	0.9846	M	0.91872	3.25	0.51012	D	0.999903	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97948	1.0330	10	0.87932	D	0	.	13.98	0.64299	0.0:0.0:1.0:0.0	.	353;353	F8W1D2;Q16671	.;AMHR2_HUMAN	D	353	ENSP00000257863:G353D;ENSP00000446661:G353D;ENSP00000369117:G353D	ENSP00000257863:G353D	G	+	2	0	AMHR2	52109594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.447000	0.80620	2.769000	0.95229	0.563000	0.77884	GGC		0.572	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		A	53823327	G	A	53823327	3	1	195	1	0	0	0	0	1	0	0	0	573	1203	42	3	1088	3	AMHR2	12	53823327	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	13810781	53823327	80028568	43	13779											
LUM	4060	broad.mit.edu	37	chr12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacttcgttagcaacacGtagacattcatacatatccg	13	11	7	10	3	1	2	1	1	0	1	3	2	2	2	1	0	3	3	1	0	5	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:91497971G>A	ENST00000266718.4	-	3	1442	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	330					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383																																						uc001tbm.3																			0		p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(988-990)Cgt>Tgt		Homo sapiens lumican (LUM), mRNA.							114	108	110					12																	91497971		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91497971G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.988C>T	12.37:g.91497971G>A	ENSP00000266718:p.Arg330Cys						p.R330C	NM_002345	NP_002336	P51884	LUM_HUMAN			2	1377	-			330					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.988C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329075	0.81690	.	.	ENSG00000139329	ENST00000266718	T	0.20200	2.09	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	M	0.78456	2.415	0.80722	D	1	D	0.62365	0.991	P	0.52957	0.714	T	0.45026	-0.9289	10	0.66056	D	0.02	-17.5142	18.291	0.90130	0.0:0.0:1.0:0.0	.	330	P51884	LUM_HUMAN	C	330	ENSP00000266718:R330C	ENSP00000266718:R330C	R	-	1	0	LUM	90022102	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	6.883000	0.75595	2.394000	0.81467	0.585000	0.79938	CGT		0.383	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		A	91497971	G	A	91497971	3	1	195	1	0	0	0	0	1	0	0	0	9085	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	37674644	91497971	42353924	44	13780											
CORO1C	23603	broad.mit.edu	37	chr12	109052586	109052586	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtgcagatcagactGccattccggttccagctcac	9	9	10	13	1	2	2	2	0	0	2	4	3	4	2	3	1	4	4	3	1	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:109052586G>C	ENST00000261401.3	-	5	730	c.558C>G	c.(556-558)ggC>ggG	p.G186G	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Silent_p.G239G|CORO1C_ENST00000541050.1_Silent_p.G186G|CORO1C_ENST00000549772.1_Silent_p.G192G|CORO1C_ENST00000421578.2_Silent_p.G81G	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	186					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGATCAGACTGCCATTCCGGT	0.433																																						uc009zva.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						c.(715-717)ggC>ggG		Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.							213	187	196					12																	109052586		2203	4300	6503	SO:0001819	synonymous_variant	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109052586G>C	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"Coronins", "WD repeat domain containing"	2254	protein-coding gene	gene with protein product		605269	"coronin, actin-binding protein, 1C"			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.558C>G	12.37:g.109052586G>C						CORO1C_uc001tnj.3_Silent_p.G186G|CORO1C_uc010sxf.2_Silent_p.G149G	p.G239G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			4	766	-			186					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Silent	SNP	ENST00000261401.3	37	c.717C>G	CCDS9120.1																																																																																				0.433	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		C	109052586	G	C	109052586	2	2	195	1	0	0	0	0	0	0	0	1	3755	1306	46	5		5	CORO1C	12	109052586	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	17554615	109052586	24799309	45	13781											
TRPV4	59341	broad.mit.edu	37	chr12	110226433	110226433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaaggtctcgctgtcacgGcacgaggggtaagtgggcac	8	7	16	10	3	2	1	1	1	1	0	3	2	2	1	0	5	0	4	0	5	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110226433G>A	ENST00000418703.2	-	12	2074	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	TRPV4_ENST00000537083.1_Silent_p.C600C|TRPV4_ENST00000536838.1_Silent_p.C626C|TRPV4_ENST00000346520.2_Silent_p.C600C|TRPV4_ENST00000541794.1_Silent_p.C613C|TRPV4_ENST00000544971.1_Silent_p.C553C|TRPV4_ENST00000392719.2_Silent_p.C613C|TRPV4_ENST00000261740.2_Silent_p.C660C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	660					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.C660C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGCTGTCACGGCACGAGGGGT	0.597																																						uc001tpj.2																			1	Substitution - coding silent(1)	p.C660C(2)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1978-1980)tgC>tgT		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							236	168	191					12																	110226433		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110226433G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1980C>T	12.37:g.110226433G>A						TRPV4_uc001tpg.2_Silent_p.C626C|TRPV4_uc021rdp.1_Silent_p.C600C|TRPV4_uc001tph.2_Silent_p.C613C|TRPV4_uc001tpi.2_Silent_p.C553C|TRPV4_uc001tpk.2_Silent_p.C660C	p.C660C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			11	2075	-			660					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1980C>T	CCDS9134.1																																																																																				0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110226433	G	A	110226433	2	1	195	1	0	0	0	0	0	0	0	1	16595	1195	42	3		3	TRPV4	12	110226433	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	1173847	110226433	23625462	46	13782											
TRPV4	59341	broad.mit.edu	37	chr12	110238470	110238470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggaagaagcgcccaCgggcctgggcgtggacatca	8	5	17	11	3	1	1	1	0	0	1	1	3	1	3	2	5	1	1	2	5	2	0	rs267607144		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110238470C>T	ENST00000418703.2	-	4	900	c.806G>A	c.(805-807)cGt>cAt	p.R269H	TRPV4_ENST00000537083.1_Missense_Mutation_p.R269H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R235H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R269H|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.R269H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	269			R -> C (in CMT2C). {ECO:0000269|PubMed:20037586}.|R -> H (in DSMAC and CMT2C; increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death). {ECO:0000269|PubMed:20037586, ECO:0000269|PubMed:20037587, ECO:0000269|PubMed:20037588}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAAGCGCCCACGGGCCTGGGC	0.632																																						uc001tpj.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(805-807)cGt>cAt		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							66	55	59					12																	110238470		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110238470C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.806G>A	12.37:g.110238470C>T	ENSP00000406191:p.Arg269His					TRPV4_uc001tpg.2_Missense_Mutation_p.R235H|TRPV4_uc021rdp.1_Missense_Mutation_p.R269H|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Missense_Mutation_p.R269H	p.R269H	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			3	901	-			269		R -> C (in CMT2C).|R -> H (in CMT2C and DSMAC).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.806G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553517	0.65425	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	D;D;D;D;D	0.89681	-2.5;-2.5;-2.55;-2.55;-2.49	4.92	4.92	0.64577	Ankyrin repeat-containing domain (3);	0.098346	0.64402	D	0.000004	D	0.90212	0.6940	L	0.34521	1.04	0.39990	D	0.975027	D;D;B	0.89917	1.0;0.999;0.032	D;D;B	0.70716	0.97;0.963;0.012	D	0.87165	0.2217	10	0.15066	T	0.55	-16.6531	17.0872	0.86614	0.0:1.0:0.0:0.0	.	269;269;235	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	H	269;269;269;269;235	ENSP00000406191:R269H;ENSP00000261740:R269H;ENSP00000319003:R269H;ENSP00000442738:R269H;ENSP00000444336:R235H	ENSP00000261740:R269H	R	-	2	0	TRPV4	108722853	0.434000	0.25570	0.954000	0.39281	0.973000	0.67179	2.420000	0.44679	2.445000	0.82738	0.655000	0.94253	CGT		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		T	110238470	C	T	110238470	3	4	195	1	0	0	0	0	1	0	0	0	16595	536	19	1	1857	1	TRPV4	12	110238470	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	12037	110238470	23613425	47	13783											
RB1	5925	broad.mit.edu	37	chr13	48951053	48951053	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtttttacctcctaaaGaactgcacagtgaatccaaa	13	13	5	10	0	1	2	0	1	1	1	3	2	3	2	3	0	3	2	3	0	6	5	rs587778831		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr13:48951053G>C	ENST00000267163.4	+	13	1353		c.e13-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACCTCCTAAAGAACTGCACAG	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS971888	RB1	S		c.e13-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						83	90	88					13																	48951053		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951053G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1216-1G>C	13.37:g.48951053G>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Splice_Site_p.N107_splice	p.N406_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1382	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	406			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1216_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942494	0.73672	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47849054	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.600000	0.90860	2.814000	0.96858	0.591000	0.81541	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	C	48951053	G	C	48951053	5	2	195	1	0	0	0	0	0	0	1	0	13098	956	33	5	1265	5	RB1	13	48951053	Splice_Site	SNP	G	TCGA-27-2524-01A-01D-1494-08		48951053	66218825	48	13784											
LEO1	123169	broad.mit.edu	37	chr15	52258194	52258194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcctctcctcatcaTctgtgttctgcattttctca	5	16	7	13	0	6	1	3	1	4	0	8	1	6	1	2	1	1	3	2	1	0	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr15:52258194T>C	ENST00000299601.5	-	2	626	c.566A>G	c.(565-567)gAt>gGt	p.D189G	LEO1_ENST00000315141.5_Missense_Mutation_p.D189G	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	189	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTCCTCATCATCTGTGTTCTG	0.433																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(565-567)gAt>gGt		Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.							268	261	263					15																	52258194		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52258194T>C	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.566A>G	15.37:g.52258194T>C	ENSP00000299601:p.Asp189Gly					LEO1_uc010bfd.3_Missense_Mutation_p.D189G	p.D189G	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	1	582	-			189			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.566A>G	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583322	0.46006	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.46	5.46	0.80206	.	0.321794	0.33670	N	0.004668	T	0.63438	0.2511	N	0.24115	0.695	0.80722	D	1	B;D	0.63880	0.01;0.993	B;D	0.74674	0.015;0.984	T	0.64283	-0.6444	9	0.39692	T	0.17	.	15.5251	0.75898	0.0:0.0:0.0:1.0	.	189;189	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	G	189	.	ENSP00000299601:D189G	D	-	2	0	LEO1	50045486	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.549000	0.53681	2.068000	0.61886	0.459000	0.35465	GAT		0.433	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		C	52258194	T	C	52258194	3	2	195	1	0	0	0	0	1	0	0	0	8726	1435	50	4	1478	4	LEO1	15	52258194	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08		52258194	50273198	49	13785											
PDILT	204474	broad.mit.edu	37	chr16	20380898	20380898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcattttgtacctggcGtcagagctcaagtttaggat	10	12	12	7	1	2	1	2	0	0	1	2	3	2	2	1	3	2	4	1	3	4	5	rs150342728		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:20380898G>A	ENST00000302451.4	-	8	1280	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	344					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.D344D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTACCTGGCGTCAGAGCTCA	0.468													G|||	1	0.000199681	0	0.0014	5008	,	,		20018	0		0	False		,,,				2504	0					uc002dhc.1																			1	Substitution - coding silent(1)	p.D344D(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1030-1032)gaC>gaT		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.		G		4,4402	8.1+/-20.4	0,4,2199	195	190	191		1032	-3.7	0	16	dbSNP_134	191	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous	PDILT	NM_174924.1		0,13,6490	AA,AG,GG		0.1047,0.0908,0.1		344/585	20380898	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380898G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1032C>T	16.37:g.20380898G>A							p.D344D	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			7	1255	-			344					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1032C>T	CCDS10584.1																																																																																				0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20380898	G	A	20380898	2	1	195	1	0	0	0	0	0	0	0	1	11674	1136	40	1		1	PDILT	16	20380898	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		20380898	69973855	50	13786											
CHD9	80205	broad.mit.edu	37	chr16	53330872	53330872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgactcaaaatagatggAcaagaagagaagaagctgac	19	6	10	6	0	2	6	1	2	1	4	2	8	2	7	0	1	1	1	0	1	7	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:53330872A>G	ENST00000398510.3	+	29	5602	c.5515A>G	c.(5515-5517)Aca>Gca	p.T1839A	CHD9_ENST00000566029.1_Missense_Mutation_p.T1839A|CHD9_ENST00000447540.1_Missense_Mutation_p.T1839A|CHD9_ENST00000564845.1_Missense_Mutation_p.T1839A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1839					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAATAGATGGACAAGAAGAGA	0.299																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5515-5517)Aca>Gca		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							79	77	77					16																	53330872		1810	4072	5882	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53330872A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5515A>G	16.37:g.53330872A>G	ENSP00000381522:p.Thr1839Ala					CHD9_uc002egy.3_Missense_Mutation_p.T1839A|CHD9_uc002ehc.3_Missense_Mutation_p.T1839A|CHD9_uc002ehf.3_Missense_Mutation_p.T953A|CHD9_uc002ehg.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.3_Missense_Mutation_p.T207A	p.T1839A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			28	5679	+		all_cancers(37;0.0212)	1839					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5515A>G		.	.	.	.	.	.	.	.	.	.	A	23.0	4.363173	0.82353	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91407	-2.84;-2.84	4.95	4.95	0.65309	.	0.000000	0.56097	D	0.000023	D	0.95573	0.8561	M	0.86864	2.845	0.58432	D	0.999999	D;D;D;D	0.63880	0.993;0.993;0.984;0.99	D;D;D;D	0.73380	0.978;0.98;0.956;0.98	D	0.96318	0.9234	10	0.87932	D	0	-14.2477	14.5941	0.68392	1.0:0.0:0.0:0.0	.	207;1839;1839;1839	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	A	1839;1839;207	ENSP00000396345:T1839A;ENSP00000381522:T1839A	ENSP00000381522:T1839A	T	+	1	0	CHD9	51888373	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.281000	0.95811	1.867000	0.54127	0.397000	0.26171	ACA		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53330872	A	G	53330872	3	3	195	1	0	0	0	0	1	0	0	0	3332	275	10	4	5629	4	CHD9	16	53330872	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	32949974	53330872	37023881	51	13787											
ZFHX3	463	broad.mit.edu	37	chr16	72827367	72827367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagccatcaactgacgtaCggtggctgggtcaaagtatt	10	11	12	8	2	2	2	2	2	0	0	2	2	2	2	1	3	3	3	1	3	4	4	rs368568803		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:72827367C>T	ENST00000268489.5	-	9	9886	c.9214G>A	c.(9214-9216)Gta>Ata	p.V3072I	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2158I|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3072					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTGACGTACGGTGGCTGGG	0.488																																						uc002fck.3																			0		p.T3071T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9214-9216)Gta>Ata		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.		C	ILE/VAL,ILE/VAL	0,4396		0,0,2198	160	158	159		6472,9214	5.8	1	16		159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2158/2790,3072/3704	72827367	1,12995	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72827367C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9214G>A	16.37:g.72827367C>T	ENSP00000268489:p.Val3072Ile					ZFHX3_uc002fcl.3_Missense_Mutation_p.V2158I	p.V3072I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	9887	-		Ovarian(137;0.13)	3072					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9214G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168669	0.38315	0.0	1.16E-4	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75938	-0.98;-0.95	5.78	5.78	0.91487	.	0.000000	0.45126	D	0.000397	D	0.84361	0.5455	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.84029	0.0358	10	0.56958	D	0.05	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	3072	Q15911	ZFHX3_HUMAN	I	3072;2158	ENSP00000268489:V3072I;ENSP00000438926:V2158I	ENSP00000268489:V3072I	V	-	1	0	ZFHX3	71384868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.730000	0.93505	0.655000	0.94253	GTA		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72827367	C	T	72827367	3	4	195	1	0	0	0	0	1	0	0	0	17631	536	19	1	1905	1	ZFHX3	16	72827367	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19496495	72827367	17527386	52	13788											
RICH2	9912	broad.mit.edu	37	chr17	12847456	12847456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatcagcggccgggagatCgccttccccatcgaggcgtg	7	6	13	15	5	1	1	1	0	0	1	4	3	2	1	5	3	1	0	5	3	0	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:12847456C>T	ENST00000379672.5	+	10	1104	c.804C>T	c.(802-804)atC>atT	p.I268I	ARHGAP44_ENST00000262444.9_Silent_p.I268I|ARHGAP44_ENST00000340825.3_Silent_p.I268I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	268	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCGGGAGATCGCCTTCCCCA	0.632																																						uc002gnr.4																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(802-804)atC>atT		Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.							47	57	54					17																	12847456		2114	4232	6346	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847456C>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.804C>T	17.37:g.12847456C>T						ARHGAP44_uc010vvk.2_Silent_p.I268I|ARHGAP44_uc010vvl.2_Silent_p.I268I|ARHGAP44_uc002gns.4_Silent_p.I68I|ARHGAP44_uc010vvm.2_Silent_p.I268I|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR	p.I268I	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			9	1131	+			268			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.804C>T	CCDS45616.1																																																																																				0.632	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		T	12847456	C	T	12847456	2	4	195	1	0	0	0	0	0	0	0	1	13357	874	31	2		2	RICH2	17	12847456	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08		12847456	68347754	53	13789											
CPD	1362	broad.mit.edu	37	chr17	28770823	28770823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtacttaatccaggttCatcagggcgtcagaggattt	9	13	10	9	1	3	1	3	0	0	1	4	2	4	2	2	3	1	2	2	3	2	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770823C>A	ENST00000225719.4	+	11	2453	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N	CPD_ENST00000543464.2_Missense_Mutation_p.H546N	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	793	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATCCAGGTTCATCAGGGCGT	0.378																																						uc002hfb.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2377-2379)Cat>Aat		Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.							117	115	116					17																	28770823		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770823C>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2377C>A	17.37:g.28770823C>A	ENSP00000225719:p.His793Asn					CPD_uc010wbo.2_Missense_Mutation_p.H546N|CPD_uc010wbp.2_Non-coding_Transcript	p.H793N	NM_001304	NP_001295	O75976	CBPD_HUMAN			10	2434	+			793			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2377C>A	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079495	0.76528	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03580	3.88;3.88	5.92	5.92	0.95590	Peptidase M14, carboxypeptidase A (1);	0.088363	0.85682	D	0.000000	T	0.14270	0.0345	M	0.87827	2.91	0.80722	D	1	B;B	0.31769	0.003;0.339	B;B	0.40982	0.02;0.345	T	0.00152	-1.1983	10	0.87932	D	0	-26.1428	17.4859	0.87688	0.0:1.0:0.0:0.0	.	546;793	F5GZH6;O75976	.;CBPD_HUMAN	N	793;546	ENSP00000225719:H793N;ENSP00000444443:H546N	ENSP00000225719:H793N	H	+	1	0	CPD	25794949	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.877000	0.75562	2.810000	0.96702	0.585000	0.79938	CAT		0.378	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		A	28770823	C	A	28770823	3	1	195	1	0	0	0	0	1	0	0	0	3798	826	29	5	2419	5	CPD	17	28770823	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	15923367	28770823	52424387	54	13790											
CPD	1362	broad.mit.edu	37	chr17	28770972	28770972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccaggaacttataaaatCacagcatctgctcgagggtg	12	10	10	9	1	2	0	1	0	1	0	4	2	3	1	1	2	3	3	1	2	4	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770972C>G	ENST00000225719.4	+	11	2602	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	CPD_ENST00000543464.2_Missense_Mutation_p.I595M	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	842	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTATAAAATCACAGCATCTG	0.423																																						uc002hfb.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2524-2526)atC>atG		Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.							145	145	145					17																	28770972		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770972C>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2526C>G	17.37:g.28770972C>G	ENSP00000225719:p.Ile842Met					CPD_uc010wbo.2_Missense_Mutation_p.I595M|CPD_uc010wbp.2_Non-coding_Transcript	p.I842M	NM_001304	NP_001295	O75976	CBPD_HUMAN			10	2583	+			842			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2526C>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127282	0.37533	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.48201	0.82;0.82	5.62	5.62	0.85841	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.157660	0.64402	D	0.000020	T	0.58250	0.2109	M	0.82923	2.615	0.42923	D	0.994295	B;B	0.33044	0.395;0.237	B;B	0.37387	0.248;0.196	T	0.63945	-0.6522	10	0.87932	D	0	.	17.1881	0.86872	0.0:1.0:0.0:0.0	.	595;842	F5GZH6;O75976	.;CBPD_HUMAN	M	842;595	ENSP00000225719:I842M;ENSP00000444443:I595M	ENSP00000225719:I842M	I	+	3	3	CPD	25795098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.093000	0.57714	2.810000	0.96702	0.585000	0.79938	ATC		0.423	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		G	28770972	C	G	28770972	3	3	195	1	0	0	0	0	1	0	0	0	3798	816	29	5	2568	5	CPD	17	28770972	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	149	28770972	52424238	55	13791											
SLC4A1	6521	broad.mit.edu	37	chr17	42337808	42337808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccggagcagctcctctCggtcctgaggccggatctgg	4	7	16	14	3	2	1	0	1	2	0	5	3	4	3	4	6	2	2	4	6	0	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42337808C>T	ENST00000262418.6	-	6	604	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	150	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607																																						uc002igf.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(448-450)cGa>cAa		Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.							49	47	48					17																	42337808		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42337808C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.449G>A	17.37:g.42337808C>T	ENSP00000262418:p.Arg150Gln					SLC4A1_uc021tyc.1_Missense_Mutation_p.R150Q	p.R150Q	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	5	598	-		Breast(137;0.014)|Prostate(33;0.0181)	150					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.449G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.731705	0.89390	.	.	ENSG00000004939	ENST00000262418	T	0.72505	-0.66	5.38	4.41	0.53225	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.128403	0.46145	N	0.000305	T	0.70072	0.3182	M	0.76433	2.335	0.54753	D	0.999981	D;P	0.54207	0.965;0.952	B;B	0.42062	0.28;0.374	T	0.74284	-0.3715	10	0.54805	T	0.06	.	13.0427	0.58908	0.0:0.9208:0.0:0.0792	.	150;150	E2RVJ0;P02730	.;B3AT_HUMAN	Q	150	ENSP00000262418:R150Q	ENSP00000262418:R150Q	R	-	2	0	SLC4A1	39693334	0.996000	0.38824	0.988000	0.46212	0.734000	0.41952	3.355000	0.52262	1.281000	0.44480	0.462000	0.41574	CGA		0.607	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		T	42337808	C	T	42337808	3	4	195	1	0	0	0	0	1	0	0	0	14650	884	31	2	2346	2	SLC4A1	17	42337808	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	13566836	42337808	38857402	56	13792											
GJC1	10052	broad.mit.edu	37	chr17	42882259	42882259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgttttgcttgtaggcGatcttagcattggacagttc	6	16	11	8	1	1	0	0	0	1	0	2	2	1	1	1	2	2	5	1	2	2	8	rs138440006		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42882259G>T	ENST00000426548.1	-	3	1196	c.927C>A	c.(925-927)atC>atA	p.I309I	GJC1_ENST00000590758.1_Silent_p.I309I|GJC1_ENST00000592524.1_Silent_p.I309I|GJC1_ENST00000330514.4_Silent_p.I309I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	309					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GCTTGTAGGCGATCTTAGCAT	0.507																																						uc002ihj.3																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(925-927)atC>atA		Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.							228	212	217					17																	42882259		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882259G>T	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.927C>A	17.37:g.42882259G>T						GJC1_uc002ihk.3_Silent_p.I309I|GJC1_uc002ihl.3_Silent_p.I309I|GJC1_uc021tyf.1_Silent_p.I309I	p.I309I	NM_005497	NP_005488	P36383	CXG1_HUMAN			1	1438	-		Prostate(33;0.0959)	309					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.927C>A	CCDS11487.1																																																																																				0.507	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		T	42882259	G	T	42882259	2	4	195	1	0	0	0	0	0	0	0	1	6414	1048	37	5		5	GJC1	17	42882259	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	544451	42882259	38312951	57	13793											
FMNL1	752	broad.mit.edu	37	chr17	43322740	43322740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagttcctgagggccaactCgcccaccatggacaagctgc	9	6	12	14	1	0	1	0	1	0	0	2	3	1	3	4	3	3	2	4	3	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:43322740C>T	ENST00000331495.3	+	22	3185	c.2849C>T	c.(2848-2850)tCg>tTg	p.S950L	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.S950L|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.S528L|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	950	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGGGCCAACTCGCCCACCATG	0.617																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2848-2850)tCg>tTg		Homo sapiens formin-like 1 (FMNL1), mRNA.							67	64	65					17																	43322740		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43322740C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2849C>T	17.37:g.43322740C>T	ENSP00000329219:p.Ser950Leu					FMNL1_uc002iiq.3_Missense_Mutation_p.S528L|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.S277L|LOC100133991_uc010dah.3_5'Flank	p.S950L	NM_005892	NP_005883	O95466	FMNL_HUMAN			21	3049	+			950			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2849C>T	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212824	0.58452	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.18016	2.24;2.24	4.18	3.12	0.35913	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	1.072190	0.07182	N	0.854299	T	0.19287	0.0463	L	0.55017	1.72	0.21105	N	0.999789	P	0.44195	0.828	B	0.41917	0.37	T	0.14839	-1.0458	10	0.45353	T	0.12	.	7.1857	0.25799	0.0:0.7252:0.1755:0.0993	.	950	O95466	FMNL_HUMAN	L	950;950;605	ENSP00000327442:S950L;ENSP00000329219:S950L	ENSP00000327442:S950L	S	+	2	0	FMNL1	40678523	0.012000	0.17670	0.955000	0.39395	0.743000	0.42351	0.256000	0.18351	2.330000	0.79161	0.289000	0.19496	TCG		0.617	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43322740	C	T	43322740	3	4	195	1	0	0	0	0	1	0	0	0	5951	893	31	2	2935	2	FMNL1	17	43322740	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	440481	43322740	37872470	58	13794											
C17orf47	284083	broad.mit.edu	37	chr17	56621327	56621327	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtgtccaggtcctgacTggagggagacagatcgaggg	10	7	16	8	1	0	3	0	1	0	2	3	6	2	4	2	4	0	0	2	4	1	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:56621327T>A	ENST00000321691.3	-	1	402	c.221A>T	c.(220-222)cAg>cTg	p.Q74L	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	74										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGTCCTGACTGGAGGGAGAC	0.567																																						uc002iwq.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(220-222)cAg>cTg		Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.							182	157	166					17																	56621327		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621327T>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.221A>T	17.37:g.56621327T>A	ENSP00000354874:p.Gln74Leu						p.Q74L	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			0	407	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		74					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.221A>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246870	0.39697	.	.	ENSG00000181013	ENST00000321691	T	0.35605	1.3	5.52	-0.0048	0.14020	.	0.891913	0.09680	N	0.769866	T	0.32675	0.0837	L	0.32530	0.975	0.09310	N	1	B	0.33238	0.403	B	0.38842	0.283	T	0.41197	-0.9522	10	0.66056	D	0.02	0.0937	12.5541	0.56244	0.0:0.0:0.5643:0.4357	.	74	Q8NEP4	CQ047_HUMAN	L	74	ENSP00000354874:Q74L	ENSP00000354874:Q74L	Q	-	2	0	C17orf47	53976326	0.019000	0.18553	0.000000	0.03702	0.006000	0.05464	0.543000	0.23237	0.069000	0.16605	0.533000	0.62120	CAG		0.567	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		A	56621327	T	A	56621327	3	1	195	1	0	0	0	0	1	0	0	0	1858	1580	55	5	1499	5	C17orf47	17	56621327	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	13298587	56621327	24573883	59	13795											
USP32	84669	broad.mit.edu	37	chr17	58258719	58258719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattataaataggcttaataCgagtatcttctctttggtca	12	16	7	6	1	3	0	1	0	2	0	4	2	3	0	0	2	1	2	0	2	7	8	rs17405739		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:58258719C>T	ENST00000300896.4	-	32	4708	c.4514G>A	c.(4513-4515)cGt>cAt	p.R1505H	USP32_ENST00000592339.1_Missense_Mutation_p.R1175H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1505	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGGCTTAATACGAGTATCTTC	0.383													C|||	1	0.000199681	8e-04	0	5008	,	,		20701	0		0	False		,,,				2504	0					uc002iyo.1																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4513-4515)cGt>cAt		Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.							116	110	112					17																	58258719		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58258719C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4514G>A	17.37:g.58258719C>T	ENSP00000300896:p.Arg1505His					USP32_uc002iyn.1_Missense_Mutation_p.R1175H	p.R1505H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		31	4800	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1505					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4514G>A	CCDS32697.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.56	1.975765	0.34848	.	.	ENSG00000170832	ENST00000300896	T	0.45276	0.9	5.37	-1.06	0.10002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.391486	0.34932	N	0.003573	T	0.27967	0.0689	.	.	.	0.19775	N	0.999959	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	9	0.40728	T	0.16	.	10.6726	0.45768	0.0:0.6677:0.0:0.3323	rs17405739	1505	Q8NFA0	UBP32_HUMAN	H	1505	ENSP00000300896:R1505H	ENSP00000300896:R1505H	R	-	2	0	USP32	55613501	0.930000	0.31532	0.179000	0.23059	0.985000	0.73830	0.895000	0.28363	-0.397000	0.07691	0.555000	0.69702	CGT		0.383	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		T	58258719	C	T	58258719	3	4	195	1	0	0	0	0	1	0	0	0	17060	536	19	1	312	1	USP32	17	58258719	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	1637392	58258719	22936491	60	13796											
GAA	2548	broad.mit.edu	37	chr17	78081639	78081639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaccctttctacctggCgctggaggacggcgggtcgg	4	9	15	13	4	2	0	1	0	2	0	4	2	2	2	2	6	1	1	2	6	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:78081639C>T	ENST00000302262.3	+	5	1118	c.899C>T	c.(898-900)gCg>gTg	p.A300V	GAA_ENST00000390015.3_Missense_Mutation_p.A300V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	300					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TTCTACCTGGCGCTGGAGGAC	0.697																																						uc002jxp.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(898-900)gCg>gTg		Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	Acarbose(DB00284)						28	31	30					17																	78081639		2199	4299	6498	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081639C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.899C>T	17.37:g.78081639C>T	ENSP00000305692:p.Ala300Val					GAA_uc002jxo.3_Missense_Mutation_p.A300V|GAA_uc002jxq.3_Missense_Mutation_p.A300V	p.A300V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	1266	+	all_neural(118;0.117)		300					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.899C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830636	0.32329	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.85629	-2.01;-2.01	5.29	-8.6	0.00889	Glycoside hydrolase-type carbohydrate-binding (1);	0.867186	0.10208	N	0.702419	T	0.55862	0.1947	N	0.04275	-0.24	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.54296	-0.8315	10	0.10377	T	0.69	-16.4738	4.2898	0.10872	0.0816:0.1963:0.2372:0.485	.	300	P10253	LYAG_HUMAN	V	300	ENSP00000305692:A300V;ENSP00000374665:A300V	ENSP00000305692:A300V	A	+	2	0	GAA	75696234	0.003000	0.15002	0.007000	0.13788	0.912000	0.54170	0.024000	0.13555	-1.160000	0.02804	-0.137000	0.14449	GCG		0.697	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78081639	C	T	78081639	3	4	195	1	0	0	0	0	1	0	0	0	6147	768	27	1	913	1	GAA	17	78081639	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19822920	78081639	3113571	61	13797											
MUC16	94025	broad.mit.edu	37	chr19	9056586	9056586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtggtggcaaatgaaGtcatggcctctgatagagaa	12	9	12	8	0	2	3	1	2	1	1	3	4	3	3	2	3	0	1	2	3	4	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:9056586G>T	ENST00000397910.4	-	3	31063	c.30860C>A	c.(30859-30861)aCt>aAt	p.T10287N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10289	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCAAATGAAGTCATGGCCTC	0.493																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30859-30861)aCt>aAt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							101	101	101					19																	9056586		2054	4203	6257	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056586G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30860C>A	19.37:g.9056586G>T	ENSP00000381008:p.Thr10287Asn						p.T10287N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	31064	-			10289			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30860C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.909	0.351723	0.11182	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.28	-0.0683	0.13756	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	.	.	.	D	0.64830	0.994	P	0.51866	0.682	T	0.47222	-0.9134	8	0.87932	D	0	.	5.4533	0.16576	0.3885:0.0:0.6115:0.0	.	10287	B5ME49	.	N	10287	ENSP00000381008:T10287N	ENSP00000381008:T10287N	T	-	2	0	MUC16	8917586	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.481000	0.22260	0.070000	0.16634	0.461000	0.40582	ACT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9056586	G	T	9056586	3	4	195	1	0	0	0	0	1	0	0	0	9973	1029	36	5	12991	5	MUC16	19	9056586	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		9056586	50072397	62	13798											
NR1H2	7376	broad.mit.edu	37	chr19	50882004	50882004	+	Frame_Shift_Del	DEL	C	C	-																															gatccagcagttggtggcggCccaactgcagtgcaacaaac																										TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:50882004delC	ENST00000253727.5	+	6	933	c.698delC	c.(697-699)gccfs	p.A233fs	NR1H2_ENST00000542413.1_Frame_Shift_Del_p.A8fs|NR1H2_ENST00000411902.2_Frame_Shift_Del_p.A136fs|NR1H2_ENST00000599105.1_Frame_Shift_Del_p.A233fs|NR1H2_ENST00000598168.1_Frame_Shift_Del_p.A233fs|NR1H2_ENST00000593926.1_Frame_Shift_Del_p.A233fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	233	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTGGTGGCGGCCCAACTGCAG	0.612																																						uc010enw.3																			0		p.A232T(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(697-699)gccfs		Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.							46	54	51					19																	50882004		2117	4230	6347	SO:0001589	frameshift_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882004delC	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.698delC	19.37:g.50882004delC	ENSP00000253727:p.Ala233fs					NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Del_p.A136fs	p.A233fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	1167	+		all_neural(266;0.057)	233			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Del	DEL	ENST00000253727.5	37	c.698delC	CCDS42593.1																																																																																				0.612	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			-	50882004	C	-	50882004	7	5	195	1	0	1	0	1	0	0	0	0	10617	739	26	0	712	0	NR1H2	19	50882004	Frame_Shift_Del	DEL	C	TCGA-27-2524-01A-01D-1494-08	41825418	50882004	8246979	63	13799											
SIRPG	55423	broad.mit.edu	37	chr20	1616837	1616837	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagggtcctctacctcGgatggcctcagacaagttgg	7	10	14	10	1	2	2	1	1	1	1	4	3	3	3	3	4	1	1	3	4	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:1616837G>A	ENST00000303415.3	-	3	809	c.745C>T	c.(745-747)Cga>Tga	p.R249*	RP11-77C3.3_ENST00000456177.1_RNA|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Nonsense_Mutation_p.R249*|SIRPG_ENST00000381580.1_Nonsense_Mutation_p.R216*|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Nonsense_Mutation_p.R249*	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	249					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCTCTACCTCGGATGGCCTCA	0.622																																						uc002wfm.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(745-747)Cga>Tga		Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.							62	59	60					20																	1616837		2203	4300	6503	SO:0001587	stop_gained	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616837G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.745C>T	20.37:g.1616837G>A	ENSP00000305529:p.Arg249*					SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	p.R249*	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	810	-			249					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Nonsense_Mutation	SNP	ENST00000303415.3	37	c.745C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	34	5.317974	0.95682	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	.	.	.	2.1	2.1	0.27182	.	0.313459	0.23127	N	0.051634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6332	0.28251	0.0:0.0:1.0:0.0	.	.	.	.	X	216;249;249;249	.	ENSP00000216927:R249X	R	-	1	2	SIRPG	1564837	0.982000	0.34865	0.502000	0.27614	0.713000	0.41058	1.556000	0.36288	1.148000	0.42385	0.195000	0.17529	CGA		0.622	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		A	1616837	G	A	1616837	4	1	195	1	0	0	0	0	0	1	0	0	14336	1124	39	2	430	2	SIRPG	20	1616837	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		1616837	61408683	64	13800											
PLK1S1	101929591	broad.mit.edu	37	chr20	21143753	21143753	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtattttgcaaaccctaagCtctcctgattcagaaaagga	13	12	7	9	0	2	2	1	1	1	1	3	3	2	3	2	1	3	3	2	1	5	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:21143753C>G	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAACCCTAAGCTCTCCTGATT	0.368																																						uc002wsb.3																			0											c.(1303-1305)agC>agG		Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.							96	96	96					20																	21143753		1852	4105	5957			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143753C>G																													20.37:g.21143753C>G						PLK1S1_uc010zsh.2_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.2_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	p.S435R	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			5	1438	+			435						Missense_Mutation	SNP	ENST00000591761.1	37	c.1305C>G																																																																																					0.368	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			G	21143753	C	G	21143753	1	3	195	0	1	0	0	0	0	0	0	0	12095	796	28	5		5	PLK1S1	20	21143753	RNA	SNP	C	TCGA-27-2524-01A-01D-1494-08	19526916	21143753	41881767	65	13801											
PYGB	5834	broad.mit.edu	37	chr20	25271172	25271172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagttggtcacctccatcgGcgacgtcgtcaatcatgacc	9	9	9	14	4	3	1	3	1	0	0	6	2	4	1	3	2	0	1	3	2	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:25271172G>T	ENST00000216962.4	+	16	1993	c.1883G>T	c.(1882-1884)gGc>gTc	p.G628V		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	628					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						ACCTCCATCGGCGACGTCGTC	0.522																																						uc002wup.3																			0		p.G628G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1882-1884)gGc>gTc		Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	Pyridoxal Phosphate(DB00114)						248	204	219					20																	25271172		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25271172G>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1883G>T	20.37:g.25271172G>T	ENSP00000216962:p.Gly628Val					BC128043_uc010gdm.1_5'Flank	p.G628V	NM_002862	NP_002853	P11216	PYGB_HUMAN			15	1992	+			628					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1883G>T	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.15|13.15	2.151174|2.151174	0.38021|0.38021	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000428458|ENST00000216962	.|D	.|0.93247	.|-3.19	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	.|0.097880	.|0.64402	.|D	.|0.000001	D|D	0.96821|0.96821	0.8962|0.8962	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.67548	.|0.952	D|D	0.97238|0.97238	0.9889|0.9889	5|10	.|0.87932	.|D	.|0	-19.3355|-19.3355	12.4033|12.4033	0.55424|0.55424	0.0:0.1698:0.8302:0.0|0.0:0.1698:0.8302:0.0	.|.	.|628	.|P11216	.|PYGB_HUMAN	S|V	47|628	.|ENSP00000216962:G628V	.|ENSP00000216962:G628V	A|G	+|+	1|2	0|0	PYGB|PYGB	25219172|25219172	1.000000|1.000000	0.71417|0.71417	0.022000|0.022000	0.16811|0.16811	0.128000|0.128000	0.20619|0.20619	6.262000|6.262000	0.72514|0.72514	2.286000|2.286000	0.76751|0.76751	0.563000|0.563000	0.77884|0.77884	GCG|GGC		0.522	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		T	25271172	G	T	25271172	3	4	195	1	0	0	0	0	1	0	0	0	12860	1203	42	5	1945	5	PYGB	20	25271172	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	4127419	25271172	37754348	66	13802											
SLC32A1	140679	broad.mit.edu	37	chr20	37356106	37356106	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccacagggcatgttcgtGctgggcctaccctacgccat	6	8	11	16	2	0	0	0	0	0	0	1	0	0	0	5	2	3	3	5	2	2	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:37356106G>C	ENST00000217420.1	+	2	665	c.402G>C	c.(400-402)gtG>gtC	p.V134V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	134					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCATGTTCGTGCTGGGCCTAC	0.647																																						uc002xjc.3																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(400-402)gtG>gtC		Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	Glycine(DB00145)						57	49	52					20																	37356106		2201	4294	6495	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356106G>C	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.402G>C	20.37:g.37356106G>C							p.V134V	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	665	+		Myeloproliferative disorder(115;0.00878)	134					Q8N489	Silent	SNP	ENST00000217420.1	37	c.402G>C	CCDS13307.1																																																																																				0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		C	37356106	G	C	37356106	2	2	195	1	0	0	0	0	0	0	0	1	14565	1306	46	5		5	SLC32A1	20	37356106	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	12084934	37356106	25669414	67	13803											
CASS4	57091	broad.mit.edu	37	chr20	55033502	55033502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgctcttcaaagccaTcagcgcatttcacggcagcc	8	8	11	14	3	4	0	3	0	1	0	4	0	4	0	2	3	3	3	2	3	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:55033502T>A	ENST00000360314.3	+	7	2285	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Missense_Mutation_p.I250N|CASS4_ENST00000371336.3_Missense_Mutation_p.I687N	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	687					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCAAAGCCATCAGCGCATTT	0.577																																						uc002xxp.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(2059-2061)aTc>aAc		Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.							64	63	63					20																	55033502		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033502T>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2060T>A	20.37:g.55033502T>A	ENSP00000353462:p.Ile687Asn					CASS4_uc010zze.1_Missense_Mutation_p.I633N|CASS4_uc002xxr.2_Missense_Mutation_p.I687N|CASS4_uc010gio.2_Missense_Mutation_p.I250N	p.I687N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN			6	2285	+			687					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.2060T>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758285	0.69763	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.34667	1.35;1.35;1.35	5.91	5.91	0.95273	CAS family, DUF3513 (1);	0.273612	0.40728	N	0.001036	T	0.63943	0.2554	M	0.82323	2.585	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.71414	0.973;0.939;0.964	T	0.69468	-0.5137	10	0.87932	D	0	-11.999	16.3483	0.83171	0.0:0.0:0.0:1.0	.	633;250;687	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	N	687;687;250	ENSP00000353462:I687N;ENSP00000360387:I687N;ENSP00000410027:I250N	ENSP00000353462:I687N	I	+	2	0	CASS4	54466909	1.000000	0.71417	0.298000	0.25002	0.442000	0.32017	7.270000	0.78493	2.254000	0.74563	0.533000	0.62120	ATC		0.577	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		A	55033502	T	A	55033502	3	1	195	1	0	0	0	0	1	0	0	0	2683	1435	50	5	2082	5	CASS4	20	55033502	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	17677396	55033502	7992018	68	13804											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288142	61288142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcttcctgtgtgcggcCgcattcctgcaggggatgac	4	12	13	12	2	1	1	0	1	1	0	3	2	3	2	3	3	2	3	3	3	0	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:61288142C>T	ENST00000370507.1	+	1	432	c.336C>T	c.(334-336)gcC>gcT	p.A112A	SLCO4A1_ENST00000217159.1_Silent_p.A112A			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	112					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTGTGCGGCCGCATTCCTGC	0.647																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(334-336)gcC>gcT		Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.							47	44	45					20																	61288142		2203	4299	6502	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288142C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.336C>T	20.37:g.61288142C>T							p.A112A	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		1	541	+	Breast(26;3.65e-08)		112					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.336C>T	CCDS13501.1																																																																																				0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61288142	C	T	61288142	2	4	195	1	0	0	0	0	0	0	0	1	14729	639	23	2		2	SLCO4A1	20	61288142	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08	6254640	61288142	1737378	69	13805											
POTEH	23784	broad.mit.edu	37	chr22	16287657	16287657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgcccacgttgctctTgccgctccccctgcaccagg	6	8	10	17	2	1	1	0	0	1	1	2	1	2	1	5	1	4	4	5	1	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:16287657T>C	ENST00000343518.6	-	1	280	c.229A>G	c.(229-231)Aag>Gag	p.K77E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	77										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACGTTGCTCTTGCCGCTCCCC	0.587																																						uc010gqp.2																			0		p.G76C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(229-231)Aag>Gag		Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.							73	86	82					22																	16287657		2072	3825	5897	SO:0001583	missense	23784							g.chr22:16287657T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.229A>G	22.37:g.16287657T>C	ENSP00000340610:p.Lys77Glu					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.K77E	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			0	281	-			77					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.229A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.939	1.216885	0.22373	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.34275	1.37	.	.	.	.	.	.	.	.	T	0.28167	0.0695	L	0.38838	1.175	0.09310	N	1	P	0.34587	0.458	B	0.39152	0.292	T	0.24154	-1.0168	7	0.44086	T	0.13	.	.	.	.	.	77	Q6S545	POTEH_HUMAN	E	77	ENSP00000340610:K77E	ENSP00000340610:K77E	K	-	1	0	POTEH	14667657	0.006000	0.16342	0.080000	0.20451	0.081000	0.17604	0.280000	0.18790	0.129000	0.18514	0.128000	0.15822	AAG		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16287657	T	C	16287657	3	2	195	1	0	0	0	0	1	0	0	0	12267	1821	63	4	1448	4	POTEH	22	16287657	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08		16287657	35016909	70	13806											
ELFN2	114794	broad.mit.edu	37	chr22	37769172	37769172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcatgcagatcctcGtccttggcgaactggacctt	8	11	11	11	2	1	1	1	0	0	1	4	4	3	3	3	3	2	1	3	3	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:37769172G>A	ENST00000402918.2	-	3	3188	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	801					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGATCCTCGTCCTTGGCGA	0.632																																						uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2401-2403)gaC>gaT		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.							98	87	91					22																	37769172		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769172G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2403C>T	22.37:g.37769172G>A						ELFN2_uc021wph.1_Silent_p.D801D	p.D801D	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			2	3189	-	Melanoma(58;0.0574)		801					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2403C>T	CCDS33642.1																																																																																				0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		A	37769172	G	A	37769172	2	1	195	1	0	0	0	0	0	0	0	1	5058	1136	40	1		1	ELFN2	22	37769172	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	21481515	37769172	13535394	71	13807											
RIBC1	158787	broad.mit.edu	37	chrX	53455349	53455349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagaagcagcagctcaaGaacgggcgtgaatttagtct	13	7	13	8	2	2	3	1	1	1	2	2	4	2	3	0	1	5	4	0	1	5	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:53455349G>A	ENST00000375327.3	+	5	471	c.318G>A	c.(316-318)aaG>aaA	p.K106K	RIBC1_ENST00000457095.1_Silent_p.K106K|RIBC1_ENST00000414955.2_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	106										lung(2)	2						AGCAGCTCAAGAACGGGCGTG	0.512																																						uc004dsk.3																			0				lung(2)	2						c.(316-318)aaG>aaA		Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.							96	82	87					X																	53455349		2203	4300	6503	SO:0001819	synonymous_variant	158787							g.chrX:53455349G>A	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.318G>A	X.37:g.53455349G>A						RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	p.K106K	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN			4	522	+			106					B4E297|E9PDU2|Q5H931|Q96A80	Silent	SNP	ENST00000375327.3	37	c.318G>A	CCDS35299.1																																																																																				0.512	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		A	53455349	G	A	53455349	2	1	195	1	0	0	0	0	0	0	0	1	13352	933	33	3		3	RIBC1	23	53455349	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		53455349	101815211	72	13808											
CT45A5	441521	broad.mit.edu	37	chrX	134947910	134947910	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttacactacttacttcGtccaaggcatcggatttcct	8	15	6	12	2	1	0	0	0	1	0	5	1	3	1	2	2	3	2	2	2	4	6	rs146235294	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:134947910G>A	ENST00000463085.2	-	3	504	c.415C>T	c.(415-417)Cga>Tga	p.R139*	CT45A5_ENST00000491480.1_Nonsense_Mutation_p.R139*|CT45A5_ENST00000370724.3_Nonsense_Mutation_p.R139*|CT45A4_ENST00000420087.2_Intron			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	139										endometrium(1)|large_intestine(2)|lung(6)	9						TACTTACTTCGTCCAAGGCAT	0.383													.|||	1	0.000264901	0	0	3775	,	,		15388	0.001		0	False		,,,				2504	0					uc004eze.3																			0		p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						c.(415-417)Cga>Tga		Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	1,3816		0,1,0,1631,553	181	152	162		415,415	-1.3	0	X	dbSNP_134	162	4,6689		0,3,1,2425,1836	yes	stop-gained,stop-gained	CT45A5	NM_001007551.3,NM_001172288.1	,	0,4,1,4056,2389	AA,AG,A,GG,G		0.0598,0.0262,0.0476	,	139/190,139/190	134947910	5,10505	2185	4265	6450	SO:0001587	stop_gained	441521							g.chrX:134947910G>A	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.415C>T	X.37:g.134947910G>A	ENSP00000424778:p.Arg139*					CT45A5_uc022ces.1_Nonsense_Mutation_p.R139*|CT45A5_uc011mvu.2_Nonsense_Mutation_p.R139*	p.R139*	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN			2	660	-			139					A8K842|B7ZMC5	Nonsense_Mutation	SNP	ENST00000463085.2	37	c.415C>T	CCDS35406.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.48	1.950148	0.34377	2.62E-4	5.98E-4	ENSG00000242284	ENST00000370724;ENST00000491480	.	.	.	2.4	-1.33	0.09172	.	0.576836	0.16638	U	0.205762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6057	0.00752	0.1766:0.2399:0.339:0.2445	.	.	.	.	X	139	.	ENSP00000359759:R139X	R	-	1	2	CT45A5	134775576	0.765000	0.28485	0.021000	0.16686	0.037000	0.13140	0.132000	0.15891	-0.142000	0.11354	0.365000	0.22127	CGA		0.383	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		A	134947910	G	A	134947910	4	1	195	1	0	0	0	0	0	1	0	0	3988	1153	40	1	166	1	CT45A5	23	134947910	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	81492561	134947910	20322650	73	13809											
AFF2	2334	broad.mit.edu	37	chrX	148069012	148069012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacatggctgccagccacGtcaacatcactagcaatgtg	12	7	8	14	1	2	0	2	0	0	0	2	0	2	0	3	1	4	2	3	1	3	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:148069012G>A	ENST00000370460.2	+	20	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_ENST00000342251.3_Missense_Mutation_p.V1214I|AFF2_ENST00000370457.5_Missense_Mutation_p.V1212I|AFF2_ENST00000286437.5_Missense_Mutation_p.V888I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1247					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3739-3741)Gtc>Atc		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							206	160	175					X																	148069012		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069012G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3739G>A	X.37:g.148069012G>A	ENSP00000359489:p.Val1247Ile					AFF2_uc004fcq.3_Missense_Mutation_p.V1237I|AFF2_uc004fcr.3_Missense_Mutation_p.V1208I|AFF2_uc011mxb.2_Missense_Mutation_p.V1212I|AFF2_uc004fcs.3_Missense_Mutation_p.V1212I|AFF2_uc011mxc.2_Missense_Mutation_p.V888I	p.V1247I	NM_002025	NP_002016	P51816	AFF2_HUMAN			19	4218	+	Acute lymphoblastic leukemia(192;6.56e-05)		1247					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3739G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876190	0.91664	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	D	0.87881	0.6289	M	0.85859	2.78	0.54753	D	0.99998	P;D;D;D;D;D	0.76494	0.776;0.991;0.99;0.999;0.999;0.999	P;D;D;D;D;D	0.74348	0.613;0.983;0.937;0.924;0.924;0.954	D	0.88319	0.2961	10	0.49607	T	0.09	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	888;1212;1212;1208;1237;1247	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1247;1212;1214;888	ENSP00000359489:V1247I;ENSP00000359486:V1212I;ENSP00000345459:V1214I;ENSP00000286437:V888I	ENSP00000286437:V888I	V	+	1	0	AFF2	147876718	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	6.533000	0.73829	2.423000	0.82170	0.600000	0.82982	GTC		0.498	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148069012	G	A	148069012	3	1	195	1	0	0	0	0	1	0	0	0	357	1145	40	1	3872	1	AFF2	23	148069012	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	13121102	148069012	7201548	74	13810											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagctggtcaattatctaaCgccaattaaatatctcagaa	16	12	5	8	1	3	1	2	0	2	1	4	1	3	1	1	1	2	1	1	1	9	5	rs374389020	byFrequency	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:12919829C>T	ENST00000240189.2	+	3	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T190M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													.|||	3	0.000599042	0	0	5008	,	,		25327	0		0	False		,,,				2504	0.0031					uc001aum.1																			1	Substitution - Missense(1)	p.T190M(2)|p.T190T(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(568-570)aCg>aTg		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.		C	MET/THR	0,4404		0,0,2202	162	177	172		569	-0.9	0	1		172	1,8587	1.2+/-3.3	0,1,4293	no	missense	PRAMEF2	NM_023014.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/475	12919829	1,12991	2202	4294	6496	SO:0001583	missense	65122							g.chr1:12919829C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.569C>T	1.37:g.12919829C>T	ENSP00000240189:p.Thr190Met						p.T190M	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	656	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	190						Missense_Mutation	SNP	ENST00000240189.2	37	c.569C>T	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.909161	0.00056	0.0	1.16E-4	ENSG00000120952	ENST00000240189	T	0.13901	2.55	0.842	-0.902	0.10537	.	1.724660	0.02998	N	0.147771	T	0.01940	0.0061	N	0.00289	-1.7	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.33137	-0.9880	10	0.02654	T	1	.	3.084	0.06272	0.0:0.3627:0.0:0.6373	.	190	O60811	PRAM2_HUMAN	M	190	ENSP00000240189:T190M	ENSP00000240189:T190M	T	+	2	0	PRAMEF2	12842416	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.073000	0.14640	-0.260000	0.09418	0.194000	0.17425	ACG		0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12919829	C	T	12919829	3	4	196	1	0	0	0	0	1	0	0	0	12435	536	19	1	575	1	PRAMEF2	1	12919829	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		12919829	236330792	1	13811											
ATP13A2	23400	broad.mit.edu	37	chr1	17318252	17318252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgacggcgcggatgCgggtccttcgcagagcctgg	6	7	15	13	5	1	2	1	1	0	1	3	3	2	3	3	4	2	1	3	4	0	1	rs371772922		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:17318252C>T	ENST00000326735.8	-	20	2261	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R738H|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R738H|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	743					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCGGATGCGGGTCCTTCG	0.622																																						uc001baa.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2227-2229)cGc>cAc		Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86	87	87		2213,2213,2228	-4.1	0	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	738/1176,738/1159,743/1181	17318252	1,13005	2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17318252C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2228G>A	1.37:g.17318252C>T	ENSP00000327214:p.Arg743His					ATP13A2_uc001bac.2_Missense_Mutation_p.R738H|ATP13A2_uc001bab.2_Missense_Mutation_p.R738H	p.R743H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	19	2418	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	743					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2228G>A	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825467	0.32237	0.0	1.16E-4	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.93	-4.14	0.03892	HAD-like domain (2);	1.302430	0.04325	N	0.351348	T	0.40909	0.1136	N	0.02296	-0.605	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.005	T	0.27502	-1.0072	10	0.27082	T	0.32	-0.0553	12.8753	0.57988	0.0:0.5827:0.0:0.4173	.	738;738;743	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	H	743;738;738;213	ENSP00000327214:R743H;ENSP00000341115:R738H;ENSP00000413307:R738H;ENSP00000421126:R213H	ENSP00000327214:R743H	R	-	2	0	ATP13A2	17190839	0.000000	0.05858	0.007000	0.13788	0.539000	0.34962	-0.150000	0.10189	-0.838000	0.04218	-0.339000	0.08088	CGC		0.622	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17318252	C	T	17318252	3	4	196	1	0	0	0	0	1	0	0	0	1124	768	27	1	1590	1	ATP13A2	1	17318252	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4398423	17318252	231932369	2	13812											
WDR78	79819	broad.mit.edu	37	chr1	67301450	67301450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catatggactctgataaataCgttctggccactaaatttta	13	14	6	8	1	2	1	0	1	2	0	2	2	2	2	1	2	1	1	1	2	7	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:67301450C>T	ENST00000371026.3	-	11	1647	c.1592G>A	c.(1591-1593)cGt>cAt	p.R531H	WDR78_ENST00000431318.1_Missense_Mutation_p.R277H	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	531					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGATAAATACGTTCTGGCCA	0.368																																						uc001dcx.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1591-1593)cGt>cAt		Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.							78	81	80					1																	67301450		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67301450C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1592G>A	1.37:g.67301450C>T	ENSP00000360065:p.Arg531His					WDR78_uc009waw.3_Missense_Mutation_p.R277H|WDR78_uc009wax.3_Intron	p.R531H	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			10	1648	-			531					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1592G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063855	0.93898	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	D;D;D	0.92752	-3.1;-3.1;-3.1	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112422	0.64402	D	0.000002	D	0.94135	0.8119	M	0.86178	2.8	0.58432	D	0.999996	D;D	0.56035	0.958;0.974	P;P	0.49922	0.584;0.626	D	0.94513	0.7720	10	0.66056	D	0.02	-8.602	19.5885	0.95498	0.0:1.0:0.0:0.0	.	277;531	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	H	531;277;297	ENSP00000360065:R531H;ENSP00000393182:R277H;ENSP00000433682:R297H	ENSP00000360065:R531H	R	-	2	0	WDR78	67074038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.810000	0.62598	2.633000	0.89246	0.644000	0.83932	CGT		0.368	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		T	67301450	C	T	67301450	3	4	196	1	0	0	0	0	1	0	0	0	17325	536	19	1	982	1	WDR78	1	67301450	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	49983198	67301450	181949171	3	13813											
CELSR2	1952	broad.mit.edu	37	chr1	109795999	109795999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaggccatcatgagcGtgctggtgtcaggtaaggaa	9	9	15	8	1	3	1	2	1	1	0	3	3	3	3	1	5	2	2	1	5	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:109795999G>A	ENST00000271332.3	+	1	3359	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1100	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATCATGAGCGTGCTGGTGTC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.4																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3298-3300)Gtg>Atg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.							25	25	25					1																	109795999		2203	4299	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795999G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3298G>A	1.37:g.109795999G>A	ENSP00000271332:p.Val1100Met						p.V1100M	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	0	3359	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1100			Cadherin 9.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3298G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	22.6	4.304932	0.81247	.	.	ENSG00000143126	ENST00000271332	T	0.56941	0.43	4.92	4.92	0.64577	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73814	0.3635	M	0.91196	3.185	0.43930	D	0.996583	D	0.69078	0.997	D	0.64144	0.922	T	0.80821	-0.1211	9	0.87932	D	0	.	18.3615	0.90376	0.0:0.0:1.0:0.0	.	1100	Q9HCU4	CELR2_HUMAN	M	1100	ENSP00000271332:V1100M	ENSP00000271332:V1100M	V	+	1	0	CELSR2	109597522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.125000	0.71627	2.561000	0.86390	0.650000	0.86243	GTG		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109795999	G	A	109795999	3	1	196	1	0	0	0	0	1	0	0	0	3222	1145	40	1	3300	1	CELSR2	1	109795999	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	42494549	109795999	139454622	4	13814											
HRNR	388697	broad.mit.edu	37	chr1	152191194	152191194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagctagatccatgttgttCgctcctagatgactgtcctg	7	14	10	10	1	0	4	0	2	0	2	4	4	3	4	3	0	1	4	3	0	2	4	rs370041563		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:152191194C>G	ENST00000368801.2	-	3	2986	c.2911G>C	c.(2911-2913)Gaa>Caa	p.E971Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	971					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E971K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTTCGCTCCTAGAT	0.562																																						uc001ezt.1																			1	Substitution - Missense(1)	p.E971K(2)	kidney(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2911-2913)Gaa>Caa		Homo sapiens hornerin (HRNR), mRNA.							311	294	300					1																	152191194		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191194C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2911G>C	1.37:g.152191194C>G	ENSP00000357791:p.Glu971Gln						p.E971Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2987	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		971					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2911G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630483	0.14322	.	.	ENSG00000197915	ENST00000368801	T	0.01584	4.75	4.11	-2.64	0.06114	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.10450	0.005	T	0.38693	-0.9649	9	0.15952	T	0.53	.	5.02	0.14356	0.0:0.332:0.1667:0.5013	.	971	Q86YZ3	HORN_HUMAN	Q	971	ENSP00000357791:E971Q	ENSP00000357791:E971Q	E	-	1	0	HRNR	150457818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.215000	0.02985	-0.661000	0.05345	0.556000	0.70494	GAA		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152191194	C	G	152191194	3	3	196	1	0	0	0	0	1	0	0	0	7359	893	31	5	5645	5	HRNR	1	152191194	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	42395195	152191194	97059427	5	13815											
CD5L	922	broad.mit.edu	37	chr1	157804375	157804375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtacagccctcccacaTcccagctgccggcacaccac	9	5	7	20	1	1	0	1	0	0	0	3	0	3	0	5	1	4	3	5	1	1	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:157804375T>C	ENST00000368174.4	-	4	636	c.540A>G	c.(538-540)ggA>ggG	p.G180G	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	180	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTCCCACATCCCAGCTGCC	0.587																																						uc001frk.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(538-540)ggA>ggG		Homo sapiens CD5 molecule-like (CD5L), mRNA.							94	86	89					1																	157804375		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804375T>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.540A>G	1.37:g.157804375T>C							p.G180G	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	683	-	all_hematologic(112;0.0378)		180			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.540A>G	CCDS1171.1																																																																																				0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		C	157804375	T	C	157804375	2	2	196	1	0	0	0	0	0	0	0	1	3027	1422	50	4		4	CD5L	1	157804375	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08	5613181	157804375	91446246	6	13816											
CEP350	9857	broad.mit.edu	37	chr1	180063502	180063505	+	Frame_Shift_Del	DEL	GACA	GACA	-																															ctggaaaaaatcagcttactGacagacagtttactaaaagt																										TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:180063502_180063505delGACA	ENST00000367607.3	+	34	8680_8683	c.8262_8265delGACA	c.(8260-8265)ctgacafs	p.LT2754fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2754					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCTTACTGACAGACAGTTTAC	0.358																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8260-8265)ctgacafs		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.																																				SO:0001589	frameshift_variant	9857					centrosome|nucleus|spindle		g.chr1:180063502_180063505delGACA	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8262_8265delGACA	1.37:g.180063506_180063509delGACA	ENSP00000356579:p.Leu2754fs					CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.3_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs	p.L2754fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			33	8645_8648	+			2754					O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	37	c.8262_8265delGACA	CCDS1336.1																																																																																				0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		-	180063505	GACA	-	180063502	7	5	196	1	0	1	0	1	0	0	0	0	3254	1277	45	0	8392	0	CEP350	1	180063502	Frame_Shift_Del	DEL	GACA	TCGA-27-2526-01A-01D-1494-08	22259127	180063502	69187119	7	13817											
SLC5A6	8884	broad.mit.edu	37	chr2	27425742	27425742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagacaaagcagcccatagCcaaaggctgggggaaaagga	16	3	13	9	0	0	1	0	0	0	1	0	3	0	3	2	4	3	2	2	4	6	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:27425742C>T	ENST00000310574.3	-	12	1687	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	SLC5A6_ENST00000408041.1_Missense_Mutation_p.G405D|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	405					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CAGCCCATAGCCAAAGGCTGG	0.493																																						uc010eyv.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(1213-1215)gGc>gAc		Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	Biotin(DB00121)|Lipoic Acid(DB00166)						97	105	103					2																	27425742		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27425742C>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1214G>A	2.37:g.27425742C>T	ENSP00000310208:p.Gly405Asp					SLC5A6_uc002rjd.3_Missense_Mutation_p.G405D	p.G405D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			12	1536	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		405					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.1214G>A	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121464	0.20877	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.87729	-2.29;-2.29	5.47	1.36	0.22044	.	0.437004	0.25991	N	0.027006	D	0.83792	0.5331	M	0.69358	2.11	0.34391	D	0.694145	B	0.31705	0.336	B	0.36335	0.222	D	0.83873	0.0275	10	0.72032	D	0.01	.	5.9872	0.19440	0.121:0.5508:0.2499:0.0782	.	405	Q9Y289	SC5A6_HUMAN	D	405	ENSP00000310208:G405D;ENSP00000384853:G405D	ENSP00000310208:G405D	G	-	2	0	SLC5A6	27279246	0.289000	0.24334	1.000000	0.80357	0.343000	0.28985	0.011000	0.13264	0.664000	0.31047	-0.251000	0.11542	GGC		0.493	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		T	27425742	C	T	27425742	3	4	196	1	0	0	0	0	1	0	0	0	14669	739	26	3	717	3	SLC5A6	2	27425742	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		27425742	215773631	8	13818											
SLC1A4	6509	broad.mit.edu	37	chr2	65237852	65237852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctcatccgtttcttcaAttccctcaacgaggcgacga	10	10	7	14	4	4	1	3	0	1	1	6	4	6	1	3	1	1	1	3	1	2	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:65237852A>G	ENST00000234256.3	+	4	998	c.755A>G	c.(754-756)aAt>aGt	p.N252S	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Missense_Mutation_p.N32S	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	252					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGTTTCTTCAATTCCCTCAAC	0.498																																						uc010yqa.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(754-756)aAt>aGt		Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	L-Alanine(DB00160)						195	171	179					2																	65237852		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65237852A>G		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.755A>G	2.37:g.65237852A>G	ENSP00000234256:p.Asn252Ser					SLC1A4_uc010ypz.2_Missense_Mutation_p.N32S|SLC1A4_uc002sdh.3_Missense_Mutation_p.N32S	p.N252S	NM_003038	NP_003029	P43007	SATT_HUMAN			3	1038	+			252					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.755A>G	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254894	0.22965	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.58060	0.36;0.36	6.03	2.43	0.29744	.	0.125530	0.64402	N	0.000001	T	0.38983	0.1061	L	0.35414	1.06	0.58432	D	0.999998	B;B;B	0.12630	0.002;0.002;0.006	B;B;B	0.17979	0.007;0.02;0.012	T	0.17837	-1.0356	10	0.45353	T	0.12	-12.4324	9.2847	0.37749	0.7976:0.0:0.2024:0.0	.	252;32;252	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	S	32;172;252	ENSP00000431942:N32S;ENSP00000234256:N252S	ENSP00000234256:N252S	N	+	2	0	SLC1A4	65091356	1.000000	0.71417	0.999000	0.59377	0.491000	0.33493	3.232000	0.51302	0.524000	0.28502	0.455000	0.32223	AAT		0.498	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		G	65237852	A	G	65237852	3	3	196	1	0	0	0	0	1	0	0	0	14434	101	4	4	769	4	SLC1A4	2	65237852	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08	37812110	65237852	177961521	9	13819											
GPR45	11250	broad.mit.edu	37	chr2	105858641	105858641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccacttctgccgccTctcagccacgctctactggt	5	10	10	16	2	3	0	1	0	3	0	4	1	3	1	4	3	3	1	4	3	1	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:105858641T>C	ENST00000258456.1	+	1	442	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTGCCGCCTCTCAGCCACG	0.612																																						uc002tco.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(325-327)cTc>cCc		Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.							85	84	84					2																	105858641		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858641T>C	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.326T>C	2.37:g.105858641T>C	ENSP00000258456:p.Leu109Pro						p.L109P	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			0	442	+			109					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.326T>C	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337933	0.60963	.	.	ENSG00000135973	ENST00000258456	T	0.42900	0.96	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.346449	0.26840	N	0.022239	T	0.56688	0.2002	M	0.64170	1.965	0.40465	D	0.980281	P	0.52316	0.952	P	0.60682	0.878	T	0.61392	-0.7072	10	0.72032	D	0.01	-27.7729	10.9078	0.47090	0.1407:0.0:0.0:0.8593	.	109	Q9Y5Y3	GPR45_HUMAN	P	109	ENSP00000258456:L109P	ENSP00000258456:L109P	L	+	2	0	GPR45	105225073	0.319000	0.24607	0.940000	0.37924	0.885000	0.51271	2.220000	0.42908	1.987000	0.57996	0.379000	0.24179	CTC		0.612	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		C	105858641	T	C	105858641	3	2	196	1	0	0	0	0	1	0	0	0	6696	1551	54	4	328	4	GPR45	2	105858641	Missense_Mutation	SNP	T	TCGA-27-2526-01A-01D-1494-08	40620789	105858641	137340732	10	13820											
NDUFA10	4705	broad.mit.edu	37	chr2	240944658	240944658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggtataaagtgcgattgtCctgcttgagccacggccctt	7	12	12	10	2	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	3	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:240944658C>T	ENST00000252711.2	-	8	959	c.859G>A	c.(859-861)Gac>Aac	p.D287N	NDUFA10_ENST00000307300.4_Missense_Mutation_p.D317N|NDUFA10_ENST00000404554.1_Missense_Mutation_p.D287N	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	287					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		GTGCGATTGTCCTGCTTGAGC	0.463																																						uc010fzc.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(949-951)Gac>Aac		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						161	151	154					2																	240944658		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240944658C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.859G>A	2.37:g.240944658C>T	ENSP00000252711:p.Asp287Asn					NDUFA10_uc002vyn.3_Missense_Mutation_p.D287N	p.D317N	NM_004544	NP_004535	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	8	1050	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	287					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.949G>A	CCDS2531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.067|5.067	0.197983|0.197983	0.09652|0.09652	.|.	.|.	ENSG00000130414|ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300|ENST00000444548	D;D;D|.	0.94092|.	-3.35;-3.35;-3.35|.	4.71|4.71	0.749|0.749	0.18381|0.18381	.|.	0.525600|.	0.21938|.	N|.	0.066927|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.25060|0.25060	0.705|0.705	0.80722|0.80722	D|D	1|1	B;B|.	0.22800|.	0.075;0.04|.	B;B|.	0.25140|.	0.058;0.032|.	T|T	0.06844|0.06844	-1.0804|-1.0804	10|5	0.10636|.	T|.	0.68|.	-14.0178|-14.0178	7.5623|7.5623	0.27857|0.27857	0.0:0.6031:0.0:0.3969|0.0:0.6031:0.0:0.3969	.|.	317;287|.	Q8WXC9;O95299|.	.;NDUAA_HUMAN|.	N|E	52;287;287;287;50;317|57	ENSP00000252711:D287N;ENSP00000385697:D287N;ENSP00000302321:D317N|.	ENSP00000252711:D287N|.	D|G	-|-	1|2	0|0	NDUFA10|NDUFA10	240593331|240593331	0.570000|0.570000	0.26651|0.26651	0.046000|0.046000	0.18839|0.18839	0.016000|0.016000	0.09150|0.09150	0.472000|0.472000	0.22116|0.22116	0.163000|0.163000	0.19507|0.19507	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.463	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		T	240944658	C	T	240944658	3	4	196	1	0	0	0	0	1	0	0	0	10260	855	30	3	220	3	NDUFA10	2	240944658	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	135086017	240944658	2254715	11	13821											
DPPA2	151871	broad.mit.edu	37	chr3	109026881	109026881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaaggttgatcttaccaGaggcttgcatcaaaaaggcc	12	11	9	9	0	2	2	1	1	1	1	2	2	2	2	2	3	2	3	2	3	4	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:109026881G>A	ENST00000478945.1	-	6	902	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	219					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATCTTACCAGAGGCTTGCAT	0.438																																						uc003dxo.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)tCt>tTt		Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.							45	44	44					3																	109026881		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109026881G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.656C>T	3.37:g.109026881G>A	ENSP00000417710:p.Ser219Phe						p.S219F	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			5	903	-			219					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.656C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	6.340	0.430878	0.12045	.	.	ENSG00000163530	ENST00000478945	T	0.35973	1.28	4.34	1.56	0.23342	.	0.990721	0.08209	N	0.980996	T	0.46288	0.1385	L	0.50333	1.59	0.19300	N	0.999977	D	0.71674	0.998	P	0.61940	0.896	T	0.30268	-0.9984	10	0.29301	T	0.29	-12.1894	6.4425	0.21856	0.3077:0.0:0.6923:0.0	.	219	Q7Z7J5	DPPA2_HUMAN	F	219	ENSP00000417710:S219F	ENSP00000417710:S219F	S	-	2	0	DPPA2	110509571	0.015000	0.18098	0.252000	0.24328	0.019000	0.09904	0.349000	0.20055	0.349000	0.23975	-0.350000	0.07774	TCT		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		A	109026881	G	A	109026881	3	1	196	1	0	0	0	0	1	0	0	0	4734	942	33	3	252	3	DPPA2	3	109026881	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		109026881	88995549	12	13822											
CD200R1L	344807	broad.mit.edu	37	chr3	112546470	112546470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgatcaaatttcttaaTgcgataggagggcaacaaag	16	11	9	5	1	2	1	1	1	1	0	2	3	2	2	0	2	2	1	0	2	6	4			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:112546470T>C	ENST00000398214.1	-	3	399	c.174A>G	c.(172-174)gcA>gcG	p.A58A	CD200R1L_ENST00000448932.1_Silent_p.A37A|CD200R1L_ENST00000488794.1_Silent_p.A37A	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	58	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AATTTCTTAATGCGATAGGAG	0.393																																						uc003dzi.1																			0		p.I57V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(172-174)gcA>gcG		Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.							127	118	121					3																	112546470		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546470T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.174A>G	3.37:g.112546470T>C						CD200R1L_uc010hqf.1_Silent_p.A37A|CD200R1L_uc011bhw.1_Silent_p.A37A	p.A58A	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN			2	400	-			58			Ig-like V-type.		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.174A>G	CCDS43131.1																																																																																				0.393	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		C	112546470	T	C	112546470	2	2	196	1	0	0	0	0	0	0	0	1	2982	1451	51	4		4	CD200R1L	3	112546470	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08	3519589	112546470	85475960	13	13823											
HGFAC	3083	broad.mit.edu	37	chr4	3451018	3451018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcgtggcttacctctacGgcatcatcagctggggtgac	7	9	13	12	3	3	1	2	1	1	0	3	1	3	1	1	5	3	3	1	5	2	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:3451018G>A	ENST00000382774.3	+	14	1955	c.1840G>A	c.(1840-1842)Ggc>Agc	p.G614S	HGFAC_ENST00000511533.1_Missense_Mutation_p.G621S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	614	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTACCTCTACGGCATCATCAG	0.672																																						uc003ghc.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1840-1842)Ggc>Agc		Homo sapiens HGF activator (HGFAC), mRNA.							51	63	59					4																	3451018		2203	4298	6501	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3451018G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1840G>A	4.37:g.3451018G>A	ENSP00000372224:p.Gly614Ser					HGFAC_uc010icw.3_Missense_Mutation_p.G621S	p.G614S	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	13	1843	+			614			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1840G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377791	0.95945	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.99532	-6.1;-6.1	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96644	0.9476	10	0.87932	D	0	.	14.927	0.70887	0.0:0.0:1.0:0.0	.	621;614	D6RAR4;Q04756	.;HGFA_HUMAN	S	614;621	ENSP00000372224:G614S;ENSP00000421801:G621S	ENSP00000372224:G614S	G	+	1	0	HGFAC	3420816	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.564000	0.53791	2.080000	0.62538	0.561000	0.74099	GGC		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3451018	G	A	3451018	3	1	196	1	0	0	0	0	1	0	0	0	7086	1116	39	2	1894	2	HGFAC	4	3451018	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		3451018	187703258	14	13824											
RBM47	54502	broad.mit.edu	37	chr4	40439840	40439840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgttgtaggggtagccGtagtaggccagtgtgtaggg	7	9	19	6	3	0	0	0	0	0	0	0	0	0	0	2	4	2	6	2	4	5	6			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:40439840G>A	ENST00000381793.2	-	3	1467	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	RBM47_ENST00000319592.4_Silent_p.Y357Y|RBM47_ENST00000295971.7_Silent_p.Y357Y|RBM47_ENST00000381795.6_Silent_p.Y357Y|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.Y319Y			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	357					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGGGGTAGCCGTAGTAGGCCA	0.642																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1069-1071)taC>taT		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							44	45	45					4																	40439840		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40439840G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1071C>T	4.37:g.40439840G>A						RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	p.Y357Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1781	-			357					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1071C>T	CCDS43223.1																																																																																				0.642	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		A	40439840	G	A	40439840	2	1	196	1	0	0	0	0	0	0	0	1	13141	1140	40	1		1	RBM47	4	40439840	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08	36988822	40439840	150714436	15	13825											
ANK2	287	broad.mit.edu	37	chr4	114276299	114276299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtactcactagtcctttcaaCacaacatttccactcgacta	12	12	3	14	1	2	0	2	0	0	0	5	1	4	0	2	0	3	1	2	0	5	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:114276299C>G	ENST00000357077.4	+	38	6578	c.6525C>G	c.(6523-6525)aaC>aaG	p.N2175K	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.N2142K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2175					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCTTTCAACACAACATTTC	0.433																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6523-6525)aaC>aaG		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							132	124	127					4																	114276299		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114276299C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6525C>G	4.37:g.114276299C>G	ENSP00000349588:p.Asn2175Lys					ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	p.N2175K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	37	6625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2142					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6525C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	1.299	-0.605522	0.03717	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69806	-0.43;-0.43	5.87	1.7	0.24286	.	0.731439	0.12723	N	0.444537	T	0.60702	0.2289	M	0.66939	2.045	0.09310	N	1	B;B	0.31548	0.003;0.328	B;B	0.30495	0.006;0.116	T	0.49082	-0.8976	9	.	.	.	.	8.2682	0.31827	0.0:0.4943:0.0:0.5057	.	2142;2175	Q01484;Q01484-4	ANK2_HUMAN;.	K	2175;2142	ENSP00000349588:N2175K;ENSP00000264366:N2142K	.	N	+	3	2	ANK2	114495748	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.741000	0.04855	0.200000	0.20447	-1.814000	0.00607	AAC		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114276299	C	G	114276299	3	3	196	1	0	0	0	0	1	0	0	0	621	477	17	5	6740	5	ANK2	4	114276299	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	73836459	114276299	76877977	16	13826											
DNAH5	1767	broad.mit.edu	37	chr5	13876806	13876806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatacctttttggtggagTtgataattgtgctaagcaca	11	14	10	6	0	0	1	0	1	0	0	0	3	0	2	1	2	3	3	1	2	3	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:13876806T>A	ENST00000265104.4	-	22	3487	c.3383A>T	c.(3382-3384)aAc>aTc	p.N1128I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1128	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGTGGAGTTGATAATTGT	0.378									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3382-3384)aAc>aTc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							126	128	127					5																	13876806		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13876806T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3383A>T	5.37:g.13876806T>A	ENSP00000265104:p.Asn1128Ile						p.N1128I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			21	3425	-	Lung NSC(4;0.00476)		1128			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3383A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	9.818	1.185094	0.21870	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.6	-1.12	0.09808	.	0.194113	0.53938	D	0.000042	T	0.25644	0.0624	M	0.85542	2.76	0.36893	D	0.88997	B	0.11235	0.004	B	0.14023	0.01	T	0.16571	-1.0398	10	0.16896	T	0.51	.	6.9615	0.24599	0.0:0.325:0.1149:0.56	.	1128	Q8TE73	DYH5_HUMAN	I	1128	ENSP00000265104:N1128I	ENSP00000265104:N1128I	N	-	2	0	DNAH5	13929806	0.898000	0.30612	0.987000	0.45799	0.900000	0.52787	-0.113000	0.10774	-0.317000	0.08677	0.533000	0.62120	AAC		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13876806	T	A	13876806	3	1	196	1	0	0	0	0	1	0	0	0	4604	1725	60	5	10723	5	DNAH5	5	13876806	Missense_Mutation	SNP	T	TCGA-27-2526-01A-01D-1494-08		13876806	167038454	17	13827											
C6	729	broad.mit.edu	37	chr5	41186199	41186199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacattttccagattggcCggaacacggtatggattact	10	11	10	10	3	0	1	0	0	0	1	1	4	1	3	3	4	2	1	3	4	3	5	rs200831910		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:41186199C>T	ENST00000263413.3	-	6	963	c.699G>A	c.(697-699)ccG>ccA	p.P233P	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Silent_p.P233P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	233	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAGATTGGCCGGAACACGGT	0.443																																						uc003jmk.2																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(697-699)ccG>ccA		Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.							128	118	122					5																	41186199		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186199C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.699G>A	5.37:g.41186199C>T						C6_uc003jml.1_Silent_p.P233P	p.P233P	NM_000065	NP_001108603	P13671	CO6_HUMAN			5	909	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	233			MACPF.			Silent	SNP	ENST00000263413.3	37	c.699G>A	CCDS3936.1																																																																																				0.443	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			T	41186199	C	T	41186199	2	4	196	1	0	0	0	0	0	0	0	1	2315	639	23	2		2	C6	5	41186199	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	27309393	41186199	139729061	18	13828											
PCDHB7	56129	broad.mit.edu	37	chr5	140554315	140554315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcagccaagcagaggct	9	3	16	13	4	0	2	0	1	0	1	0	4	0	2	2	2	5	5	2	2	1	0			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:140554315C>T	ENST00000231137.3	+	1	2073	c.1899C>T	c.(1897-1899)cgC>cgT	p.R633R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.687																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1897-1899)cgC>cgT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							40	64	56					5																	140554315		2166	4275	6441	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554315C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1899C>T	5.37:g.140554315C>T							p.R633R	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2073	+			633			Cadherin 6.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1899C>T	CCDS4249.1																																																																																				0.687	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140554315	C	T	140554315	2	4	196	1	0	0	0	0	0	0	0	1	11547	755	27	1		1	PCDHB7	5	140554315	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	99368116	140554315	40360945	19	13829											
SH3TC2	79628	broad.mit.edu	37	chr5	148407984	148407984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccggcaggcgatagctGtctgaggtggccgagaggag	7	6	19	9	3	1	2	0	1	1	1	2	5	2	3	2	6	1	3	2	6	1	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:148407984G>C	ENST00000515425.1	-	11	1412	c.1311C>G	c.(1309-1311)gaC>gaG	p.D437E	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.D322E|SH3TC2_ENST00000512049.1_Missense_Mutation_p.D430E	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	437					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGATAGCTGTCTGAGGTGG	0.622																																						uc003lpu.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1309-1311)gaC>gaG		Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.							46	49	48					5																	148407984		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407984G>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1311C>G	5.37:g.148407984G>C	ENSP00000423660:p.Asp437Glu					SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.D81E|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.D430E|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.D322E	p.D437E	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1463	-			437					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1311C>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710570	0.00712	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.75367	-0.93;-0.92;-0.56	5.5	1.76	0.24704	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	N	0.14661	0.345	0.34382	D	0.69316	P;B;B;B	0.37636	0.603;0.041;0.041;0.041	B;B;B;B	0.32762	0.152;0.018;0.018;0.018	T	0.51733	-0.8668	10	0.06365	T	0.9	.	2.4205	0.04447	0.2675:0.0989:0.4862:0.1474	.	322;430;437;437	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	E	437;430;322	ENSP00000423660:D437E;ENSP00000421860:D430E;ENSP00000377886:D322E	ENSP00000377886:D322E	D	-	3	2	SH3TC2	148388177	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	0.864000	0.27926	0.455000	0.26910	-0.736000	0.03550	GAC		0.622	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		C	148407984	G	C	148407984	3	2	196	1	0	0	0	0	1	0	0	0	14262	1368	48	5	2583	5	SH3TC2	5	148407984	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	7853669	148407984	32507276	20	13830											
GABRB2	2561	broad.mit.edu	37	chr5	160761758	160761758	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagtaataaaatggcctaCctaatgccacccttgcagct	13	9	7	12	0	0	0	0	0	0	0	0	0	0	0	4	1	5	4	4	1	5	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:160761758C>T	ENST00000393959.1	-	7	832		c.e7+1		GABRB2_ENST00000274547.2_Splice_Site|GABRB2_ENST00000517901.1_Splice_Site|GABRB2_ENST00000353437.6_Splice_Site|GABRB2_ENST00000520240.1_Splice_Site|GABRB2_ENST00000517547.1_Splice_Site			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2						cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATGGCCTACCTAATGCCAC	0.443																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.e8+1		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						134	120	125					5																	160761758		2203	4300	6503	SO:0001630	splice_region_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160761758C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.832+1G>A	5.37:g.160761758C>T						GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc021yhg.1_Splice_Site_p.G215_splice	p.G278_splice	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1050	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	278					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Splice_Site	SNP	ENST00000393959.1	37	c.832_splice	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493586	0.84962	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5427	0.91035	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRB2	160694336	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.720000	0.84759	2.372000	0.80975	0.650000	0.86243	.		0.443	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		Intron	T	160761758	C	T	160761758	5	4	196	1	0	0	0	0	0	0	1	0	6167	521	18	3	721	3	GABRB2	5	160761758	Splice_Site	SNP	C	TCGA-27-2526-01A-01D-1494-08	12353774	160761758	20153502	21	13831											
GABRA6	2559	broad.mit.edu	37	chr5	161117359	161117359	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcaagaactgtttttGgtatatgtcacattttgtac	10	16	7	8	0	1	1	1	0	0	1	2	1	2	1	1	1	3	4	1	1	5	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:161117359G>A	ENST00000274545.5	+	7	1259	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Splice_Site_p.G266R			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	276					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AACTGTTTTTGGTATATGTCA	0.378										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.e7+1		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						125	120	122					5																	161117359		2203	4300	6503	SO:0001630	splice_region_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161117359G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.826+1G>A	5.37:g.161117359G>A		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Splice_Site_p.G47_splice	p.G276_splice	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1164	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	276					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.826_splice	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754696	0.89843	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.89415	-2.51;-2.51	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.152152	0.64402	D	0.000016	D	0.96938	0.9000	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98440	1.0586	10	0.87932	D	0	.	18.9873	0.92777	0.0:0.0:1.0:0.0	.	276	Q16445	GBRA6_HUMAN	R	276;266	ENSP00000274545:G276R;ENSP00000430527:G266R	ENSP00000274545:G276R	G	+	1	0	GABRA6	161049937	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.751000	0.98889	2.491000	0.84063	0.655000	0.94253	GGG		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		Missense_Mutation	A	161117359	G	A	161117359	5	1	196	1	0	0	0	0	0	0	1	0	6165	1362	47	3	852	3	GABRA6	5	161117359	Splice_Site	SNP	G	TCGA-27-2526-01A-01D-1494-08	355601	161117359	19797901	22	13832											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056237	26056245	+	In_Frame_Del	DEL	CTTCTTGGG	CTTCTTGGG	-																															ggagttgcgccgccagccgcCttcttgggcttcttggctgc																								rs149712381|rs547786942|rs370764227		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:26056237_26056245delCTTCTTGGG	ENST00000343677.2	-	1	454_462	c.412_420delCCCAAGAAG	c.(412-420)cccaagaagdel	p.PKK138del		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	138					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCCAGCCGCCTTCTTGGGCTTCTTGGCT	0.565																																						uc003nfw.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(412-420)cccaagaagdel		Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.				2,4220		0,2,2109						2.5	1			69	4,8226		1,2,4112	no	coding	HIST1H1C	NM_005319.3		1,4,6221	A1A1,A1R,RR		0.0486,0.0474,0.0482				6,12446				SO:0001651	inframe_deletion	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056237_26056245delCTTCTTGGG	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.412_420delCCCAAGAAG	6.37:g.26056237_26056245delCTTCTTGGG	ENSP00000339566:p.Pro138_Lys140del						p.PKK138del	NM_005319	NP_005310	P16403	H12_HUMAN			0	455_463	-			138					A8K4I2	In_Frame_Del	DEL	ENST00000343677.2	37	c.412_420delCCCAAGAAG	CCDS4577.1																																																																																				0.565	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		-	26056245	CTTCTTGGG	-	26056237	7	5	196	1	0	1	0	1	0	0	0	0	7124	680	24	0	225	0	HIST1H1C	6	26056237	In_Frame_Del	DEL	CTTCTTGGG	TCGA-27-2526-01A-01D-1494-08		26056237	145058830	23	13833											
TAP2	6891	broad.mit.edu	37	chr6	32803482	32803482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggagaaaagctgctccCggatccgcaagttgattcga	11	7	14	9	3	0	2	0	1	0	1	3	6	2	4	2	3	2	4	2	3	3	2	rs371802164		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:32803482C>T	ENST00000452392.2	-	4	850	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.R226Q|TAP2_ENST00000374897.2_Missense_Mutation_p.R226Q			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AAGCTGCTCCCGGATCCGCAA	0.582																																						uc011dqf.1																			0											c.(676-678)cGg>cAg		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.							92	87	89					6																	32803482		1510	2708	4218	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32803482C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.677G>A	6.37:g.32803482C>T	ENSP00000391806:p.Arg226Gln					TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003occ.3_Missense_Mutation_p.R226Q|TAP2_uc003ocd.3_Missense_Mutation_p.R226Q	p.R226Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN			3	799	-			226			ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.677G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.988011	0.74589	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.86694	-2.16;-2.16;-2.16	4.99	4.12	0.48240	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.42172	D	0.000743	D	0.90892	0.7138	M	0.80847	2.515	0.37459	D	0.915144	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;1.0;1.0;0.999	D	0.92179	0.5750	9	0.87932	D	0	-29.564	11.0124	0.47669	0.0:0.9083:0.0:0.0917	.	226;227;226;226	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	Q	226	ENSP00000364034:R226Q;ENSP00000364032:R226Q;ENSP00000391806:R226Q	ENSP00000364032:R226Q	R	-	2	0	XXbac-BPG246D15.9;TAP2	32911460	0.979000	0.34478	0.980000	0.43619	0.944000	0.59088	2.433000	0.44793	1.101000	0.41535	0.542000	0.68232	CGG		0.582	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		T	32803482	C	T	32803482	3	4	196	1	0	0	0	0	1	0	0	0	15548	652	23	2	1504	2	TAP2	6	32803482	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	6747245	32803482	138311585	24	13834											
DNAH8	1769	broad.mit.edu	37	chr6	38750809	38750809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttatcaagtccggaCggtaaagctgtcatccgtca	11	11	9	10	3	3	0	3	0	0	0	5	2	5	1	2	2	1	2	2	2	4	3	rs570158039		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:38750809C>T	ENST00000359357.3	+	15	1892	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	DNAH8_ENST00000441566.1_Silent_p.D546D|DNAH8_ENST00000449981.2_Silent_p.D763D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	546					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGTCCGGACGGTAAAGCTG	0.378													C|||	1	0.000199681	0	0	5008	,	,		19839	0		0	False		,,,				2504	0.001					uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2287-2289)gaC>gaT		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							106	100	102					6																	38750809		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38750809C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1638C>T	6.37:g.38750809C>T						DNAH8_uc003ooe.2_Silent_p.D546D	p.D763D	NM_001206927	NP_001193856					16	2398	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.2289C>T																																																																																					0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38750809	C	T	38750809	2	4	196	1	0	0	0	0	0	0	0	1	4607	535	19	1		1	DNAH8	6	38750809	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	5947327	38750809	132364258	25	13835											
MANEA	79694	broad.mit.edu	37	chr6	96053740	96053740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatgggccaatctgttaaCcacctcagggtctcggagta	12	9	10	10	1	3	0	1	0	2	0	4	1	3	1	3	3	1	2	3	3	5	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:96053740C>T	ENST00000358812.4	+	5	982	c.848C>T	c.(847-849)aCc>aTc	p.T283I	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	283	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCTGTTAACCACCTCAGGG	0.398																																						uc003poo.2																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(847-849)aCc>aTc		Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.							125	120	122					6																	96053740		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053740C>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.848C>T	6.37:g.96053740C>T	ENSP00000351669:p.Thr283Ile						p.T283I	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	4	1028	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	283			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.848C>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008569	0.75046	.	.	ENSG00000172469	ENST00000358812	D	0.92249	-3.0	6.16	5.3	0.74995	.	0.044711	0.85682	D	0.000000	D	0.89928	0.6857	M	0.83603	2.65	0.49299	D	0.999772	P	0.46512	0.879	B	0.41571	0.36	D	0.89894	0.4039	10	0.42905	T	0.14	-16.8523	14.8614	0.70384	0.0:0.9316:0.0:0.0684	.	283	Q5SRI9	MANEA_HUMAN	I	283	ENSP00000351669:T283I	ENSP00000351669:T283I	T	+	2	0	MANEA	96160461	0.997000	0.39634	0.951000	0.38953	0.998000	0.95712	3.619000	0.54196	1.623000	0.50342	0.650000	0.86243	ACC		0.398	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		T	96053740	C	T	96053740	3	4	196	1	0	0	0	0	1	0	0	0	9221	507	18	3	862	3	MANEA	6	96053740	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	57302931	96053740	75061327	26	13836											
SIM1	6492	broad.mit.edu	37	chr6	100841630	100841630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaaaactgtctgtaggCgcacgatgcgtcgtgctggg	7	9	15	10	5	1	0	0	0	1	0	3	2	2	0	1	2	3	3	1	2	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:100841630C>T	ENST00000369208.3	-	11	2085	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	SIM1_ENST00000262901.4_Missense_Mutation_p.A435T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	435	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTCTGTAGGCGCACGATGCG	0.617																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1303-1305)Gcc>Acc		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							75	71	73					6																	100841630		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841630C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1303G>A	6.37:g.100841630C>T	ENSP00000358210:p.Ala435Thr					SIM1_uc021zdg.1_Missense_Mutation_p.A435T|SIM1_uc010kcu.3_Missense_Mutation_p.A435T	p.A435T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1770	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	435			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1303G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248439	0.59103	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.33216	1.42;1.42	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.144833	0.64402	D	0.000007	T	0.10380	0.0254	N	0.19112	0.55	0.51767	D	0.99993	P	0.35807	0.522	B	0.23852	0.049	T	0.07986	-1.0744	10	0.21540	T	0.41	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	435	P81133	SIM1_HUMAN	T	435	ENSP00000358210:A435T;ENSP00000262901:A435T	ENSP00000262901:A435T	A	-	1	0	SIM1	100948351	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	4.564000	0.60830	2.731000	0.93534	0.655000	0.94253	GCC		0.617	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100841630	C	T	100841630	3	4	196	1	0	0	0	0	1	0	0	0	14323	768	27	1	1005	1	SIM1	6	100841630	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4787890	100841630	70273437	27	13837											
CALCR	799	broad.mit.edu	37	chr7	93108720	93108720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatagcatttgtactgtgCatccatcatcttctttcgtc	7	17	6	11	1	4	0	2	0	2	0	7	0	5	0	1	0	3	3	1	0	2	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:93108720C>T	ENST00000394441.1	-	3	466	c.151G>A	c.(151-153)Gca>Aca	p.A51T	CALCR_ENST00000360249.4_Missense_Mutation_p.A51T|CALCR_ENST00000421592.1_Missense_Mutation_p.A51T|CALCR_ENST00000426151.1_Missense_Mutation_p.A51T|CALCR_ENST00000359558.2_Missense_Mutation_p.A69T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	69					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGTACTGTGCATCCATCATC	0.418																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(205-207)Gca>Aca		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						284	262	269					7																	93108720		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93108720C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.151G>A	7.37:g.93108720C>T	ENSP00000377959:p.Ala51Thr					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	p.A69T	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	505	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		51					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.205G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196368	0.78902	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.21	5.21	0.72293	.	.	.	.	.	T	0.66317	0.2777	M	0.63843	1.955	0.30330	N	0.786716	D;P	0.61697	0.99;0.81	P;P	0.62649	0.905;0.492	T	0.65537	-0.6144	9	0.72032	D	0.01	.	11.5471	0.50700	0.1782:0.8218:0.0:0.0	.	69;51	F5H605;A4D1G6	.;.	T	69;51;51;51;51;51	ENSP00000352561:A69T;ENSP00000353385:A51T;ENSP00000399552:A51T;ENSP00000377959:A51T;ENSP00000389295:A51T	ENSP00000352561:A69T	A	-	1	0	CALCR	92946656	0.962000	0.33011	0.414000	0.26521	0.056000	0.15407	1.584000	0.36589	2.890000	0.99128	0.650000	0.86243	GCA		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		T	93108720	C	T	93108720	3	4	196	1	0	0	0	0	1	0	0	0	2579	710	25	3	1369	3	CALCR	7	93108720	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		93108720	66029943	28	13838											
TMEM130	222865	broad.mit.edu	37	chr7	98457803	98457803	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggggtaaggacctaccCgtccccgaagtcccagctgt	9	6	12	14	2	0	1	0	0	0	1	2	3	2	2	5	3	2	2	5	3	3	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:98457803C>T	ENST00000416379.2	-	3	554	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	TMEM130_ENST00000546258.1_Splice_Site_p.G165R|TMEM130_ENST00000339375.4_Splice_Site_p.G184R|TMEM130_ENST00000450876.1_Splice_Site_p.G100R|TMEM130_ENST00000345589.4_Splice_Site_p.G82R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	184	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGACCTACCCGTCCCCGAAG	0.557																																						uc003upo.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.e3+1		Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.							66	60	62					7																	98457803		2203	4300	6503	SO:0001630	splice_region_variant	222865					Golgi membrane|integral to membrane		g.chr7:98457803C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.551+1G>A	7.37:g.98457803C>T						TMEM130_uc011kiq.2_Splice_Site_p.G165_splice|TMEM130_uc011kir.2_Splice_Site_p.G184_splice|TMEM130_uc003upn.3_Splice_Site_p.G82_splice	p.G184_splice	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	740	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		184			PKD.		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.551_splice	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075479	0.55646	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.27	4.27	0.50696	PKD domain (3);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	M	0.65498	2.005	0.50467	D	0.999871	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.76699	-0.2863	10	0.66056	D	0.02	-25.2502	15.0099	0.71542	0.0:1.0:0.0:0.0	.	184;165;184;82	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	R	184;184;100;82;165	ENSP00000413163:G184R;ENSP00000341256:G184R;ENSP00000390200:G100R;ENSP00000330262:G82R;ENSP00000445869:G165R	ENSP00000341256:G184R	G	-	1	0	TMEM130	98295739	0.996000	0.38824	0.972000	0.41901	0.015000	0.08874	4.051000	0.57412	2.313000	0.78055	0.650000	0.86243	GGG		0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	Missense_Mutation	T	98457803	C	T	98457803	5	4	196	1	0	0	0	0	0	0	1	0	16040	666	23	2	781	2	TMEM130	7	98457803	Splice_Site	SNP	C	TCGA-27-2526-01A-01D-1494-08	5349083	98457803	60680860	29	13839											
LAMB4	22798	broad.mit.edu	37	chr7	107745023	107745023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgcatctctcacagttCggaccatctgtattgtgctg	6	15	8	12	1	3	0	1	0	2	0	6	1	4	1	2	1	2	4	2	1	1	4			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:107745023C>T	ENST00000388781.3	-	9	995	c.912G>A	c.(910-912)ccG>ccA	p.P304P	LAMB4_ENST00000205386.4_Silent_p.P304P|LAMB4_ENST00000414450.2_Silent_p.P304P|LAMB4_ENST00000388780.3_Silent_p.P304P|LAMB4_ENST00000418464.1_Silent_p.P304P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	304	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCACAGTTCGGACCATCTG	0.522																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(910-912)ccG>ccA		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							239	210	220					7																	107745023		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107745023C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.912G>A	7.37:g.107745023C>T						LAMB4_uc003vey.2_Silent_p.P304P	p.P304P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			8	996	-			304			Laminin EGF-like 1.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.912G>A	CCDS34732.1																																																																																				0.522	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107745023	C	T	107745023	2	4	196	1	0	0	0	0	0	0	0	1	8613	871	31	2		2	LAMB4	7	107745023	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	9287220	107745023	51393640	30	13840											
UBE3C	9690	broad.mit.edu	37	chr7	157041080	157041081	+	In_Frame_Ins	INS	-	-	TGG																															ggctctctatgagaacatgcINStggtggagctgccctttgca																										TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:157041080_157041081insTGG	ENST00000348165.5	+	19	2860_2861	c.2500_2501insTGG	c.(2500-2502)ctg>cTGGtg	p.835_836insV		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	835	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAGAACATGCTGGTGGAGCTG	0.47																																						uc010lqs.3																			0		p.E836E(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2500-2502)ctg>cTGGtg		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.																																				SO:0001652	inframe_insertion	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041080_157041081insTGG	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2504_2506dupTGG	7.37:g.157041084_157041086dupTGG	ENSP00000309198:p.Val835_Val835dup					UBE3C_uc003wni.4_In_Frame_Ins_p.198_199insV	p.835_836insV	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	18	2812_2813	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	835			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	In_Frame_Ins	INS	ENST00000348165.5	37	c.2500_2501insTGG	CCDS34789.1																																																																																				0.47	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		TGG	157041081	-	TGG	157041080	7	5	196	1	0	1	1	0	0	0	0	0	16878	796	28	0	2574	0	UBE3C	7	157041080	In_Frame_Ins	INS	-	TCGA-27-2526-01A-01D-1494-08	49296057	157041080	2097583	31	13841											
RP1L1	94137	broad.mit.edu	37	chr8	10467799	10467799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcttcatcctcattggtgGcacaagcgcaggctcgggcg	6	9	13	13	3	2	0	2	0	0	0	4	0	3	0	1	4	2	4	1	4	1	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:10467799G>A	ENST00000382483.3	-	4	4032	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1270					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTGGTGGCACAAGCGCA	0.517																																						uc003wtc.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3808-3810)gCc>gTc		Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.							132	134	133					8																	10467799		2060	4200	6260	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467799G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3809C>T	8.37:g.10467799G>A	ENSP00000371923:p.Ala1270Val						p.A1270V	NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	4038	-			1270					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3809C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991407	0.54041	.	.	ENSG00000183638	ENST00000382483	T	0.05081	3.5	4.08	0.917	0.19380	.	0.232534	0.22242	N	0.062663	T	0.05090	0.0136	L	0.32530	0.975	0.09310	N	1	D	0.52996	0.957	P	0.44811	0.461	T	0.34527	-0.9825	10	0.46703	T	0.11	-8.6546	3.7301	0.08489	0.0971:0.1634:0.572:0.1675	.	1270	A6NKC6	.	V	1270	ENSP00000371923:A1270V	ENSP00000371923:A1270V	A	-	2	0	RP1L1	10505209	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.256000	0.18351	0.443000	0.26582	0.561000	0.74099	GCC		0.517	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10467799	G	A	10467799	3	1	196	1	0	0	0	0	1	0	0	0	13533	1203	42	3	3397	3	RP1L1	8	10467799	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		10467799	135896223	32	13842											
CSMD3	114788	broad.mit.edu	37	chr8	113420591	113420591	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgttattggtccaactGaagtaaatcgaattgtgatc	12	14	9	6	1	0	2	0	2	0	0	3	3	1	2	1	1	2	3	1	1	7	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:113420591G>T	ENST00000297405.5	-	34	5805	c.5561C>A	c.(5560-5562)tCa>tAa	p.S1854*	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1814*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S1750*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1854	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCCAACTGAAGTAAATCG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0		p.T1853N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5560-5562)tCa>tAa		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							174	171	172					8																	113420591		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113420591G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5561C>A	8.37:g.113420591G>T	ENSP00000297405:p.Ser1854*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.S1750*	p.S1854*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			33	5720	-			1854			CUB 10.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.5561C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	45	11.565261	0.99576	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	.	.	.	4.98	4.1	0.47936	.	0.200829	0.34314	N	0.004077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5122	0.61519	0.0753:0.0:0.9247:0.0	.	.	.	.	X	1814;1854;1750	.	ENSP00000297405:S1854X	S	-	2	0	CSMD3	113489767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	1.456000	0.47831	0.591000	0.81541	TCA		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113420591	G	T	113420591	4	4	196	1	0	0	0	0	0	1	0	0	3946	1294	45	5	5714	5	CSMD3	8	113420591	Nonsense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	102952792	113420591	32943431	33	13843											
MAT1A	4143	broad.mit.edu	37	chr10	82034790	82034790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctggacaagcactctccGgcagagccctgctttcacca	9	8	8	16	1	2	1	1	0	1	1	3	2	2	2	4	2	4	3	4	2	2	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:82034790G>A	ENST00000372213.3	-	7	1194	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	312					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACTCTCCGGCAGAGCCCT	0.632																																						uc001kbw.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(934-936)Cgg>Tgg		Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						22	26	25					10																	82034790		2180	4272	6452	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034790G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.934C>T	10.37:g.82034790G>A	ENSP00000361287:p.Arg312Trp						p.R312W	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	1189	-			312					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.934C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102041	0.76983	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.97870	-4.58	4.99	4.99	0.66335	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.098967	0.64402	D	0.000002	D	0.99064	0.9679	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99353	1.0915	10	0.87932	D	0	-32.5151	16.1234	0.81377	0.0:0.0:1.0:0.0	.	312	Q00266	METK1_HUMAN	W	312	ENSP00000361287:R312W	ENSP00000361280:R312W	R	-	1	2	MAT1A	82024770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.348000	0.52209	2.484000	0.83849	0.563000	0.77884	CGG		0.632	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		A	82034790	G	A	82034790	3	1	196	1	0	0	0	0	1	0	0	0	9329	1115	39	2	265	2	MAT1A	10	82034790	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		82034790	53499957	34	13844											
PTEN	5728	broad.mit.edu	37	chr10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggtgtaatgatatGtgcatatttattacatcggg	12	14	10	5	2	0	1	0	1	0	0	1	2	0	1	0	2	3	2	0	2	6	6			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:89692923G>A	ENST00000371953.3	+	5	1764	c.407G>A	c.(406-408)tGt>tAt	p.C136Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C136Y(8)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		69	Whole gene deletion(37)|Substitution - Missense(13)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)	prostate(16)|central_nervous_system(14)|endometrium(10)|breast(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|meninges(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM983501	PTEN	M		c.(406-408)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							123	117	119					10																	89692923		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692923G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.407G>A	10.37:g.89692923G>A	ENSP00000361021:p.Cys136Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C136Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1439	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.407G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658698	0.88154	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	9	.	.	.	-4.1412	18.7776	0.91918	0.0:0.0:1.0:0.0	.	136	P60484	PTEN_HUMAN	Y	136	ENSP00000361021:C136Y	.	C	+	2	0	PTEN	89682903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	TGT		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692923	G	A	89692923	3	1	196	1	0	0	0	0	1	0	0	0	12738	1377	48	3	425	3	PTEN	10	89692923	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	7658133	89692923	45841824	35	13845											
OR9G4	283189	broad.mit.edu	37	chr11	56510803	56510803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatcctcctatgtaggagCcagcaacaagcccagtacag	15	6	8	12	0	0	0	0	0	0	0	2	1	2	1	4	1	5	3	4	1	7	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:56510803C>A	ENST00000302957.3	-	1	484	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TATGTAGGAGCCAGCAACAAG	0.463																																						uc010rjo.2																			0		p.G162G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(484-486)gGc>gTc		Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.							87	91	90					11																	56510803		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510803C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.485G>T	11.37:g.56510803C>A	ENSP00000307515:p.Gly162Val						p.G162V	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			0	485	-			162					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.485G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300202	0.40694	.	.	ENSG00000172457	ENST00000302957	T	0.36520	1.25	5.07	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001140	T	0.47637	0.1456	L	0.52573	1.65	0.26998	N	0.96498	D	0.69078	0.997	D	0.64595	0.927	T	0.28364	-1.0046	10	0.44086	T	0.13	-16.3282	10.4574	0.44559	0.1357:0.6002:0.2641:0.0	.	162	Q8NGQ1	OR9G4_HUMAN	V	162	ENSP00000307515:G162V	ENSP00000307515:G162V	G	-	2	0	OR9G4	56267379	0.000000	0.05858	0.865000	0.33974	0.539000	0.34962	-0.249000	0.08842	1.341000	0.45600	0.643000	0.83706	GGC		0.463	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		A	56510803	C	A	56510803	3	1	196	1	0	0	0	0	1	0	0	0	11251	739	26	5	501	5	OR9G4	11	56510803	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		56510803	78495713	36	13846											
TECTA	7007	broad.mit.edu	37	chr11	121028677	121028677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgcgcaacggggtgcgcgGctgcttcagcaccaagacct	7	6	14	14	4	1	1	1	0	0	1	1	1	1	1	2	3	5	5	2	3	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:121028677G>A	ENST00000392793.1	+	14	4704	c.4433G>A	c.(4432-4434)gGc>gAc	p.G1478D	TECTA_ENST00000264037.2_Missense_Mutation_p.G1478D			O75443	TECTA_HUMAN	tectorin alpha	1478					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGTGCGCGGCTGCTTCAGC	0.682																																						uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4432-4434)gGc>gAc		Homo sapiens tectorin alpha (TECTA), mRNA.							40	37	38					11																	121028677		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028677G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4433G>A	11.37:g.121028677G>A	ENSP00000376543:p.Gly1478Asp						p.G1478D	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	4433	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1478						Missense_Mutation	SNP	ENST00000392793.1	37	c.4433G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342107	0.95783	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.05081	3.5;3.5	5.69	5.69	0.88448	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.00050	-1.2197	10	0.62326	D	0.03	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	1478	O75443	TECTA_HUMAN	D	1478	ENSP00000376543:G1478D;ENSP00000264037:G1478D	ENSP00000264037:G1478D	G	+	2	0	TECTA	120533887	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.508000	0.98000	2.687000	0.91594	0.462000	0.41574	GGC		0.682	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121028677	G	A	121028677	3	1	196	1	0	0	0	0	1	0	0	0	15744	1203	42	3	4483	3	TECTA	11	121028677	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	64517874	121028677	13977839	37	13847											
LRIG3	121227	broad.mit.edu	37	chr12	59270251	59270251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtcatgttgtggtaagaAaaatccagcacctgaagatg	14	10	10	7	0	1	3	1	1	0	2	2	3	2	3	2	1	1	3	2	1	4	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59270251A>G	ENST00000320743.3	-	16	2957	c.2671T>C	c.(2671-2673)Ttc>Ctc	p.F891L	LRIG3_ENST00000379141.4_Missense_Mutation_p.F831L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	891					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTGGTAAGAAAAATCCAGCA	0.418			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2671-2673)Ttc>Ctc		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.							106	94	98					12																	59270251		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59270251A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2671T>C	12.37:g.59270251A>G	ENSP00000326759:p.Phe891Leu					LRIG3_uc009zqh.3_Missense_Mutation_p.F831L|LRIG3_uc010ssh.2_Non-coding_Transcript	p.F891L	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2917	-			891					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2671T>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984182	0.53827	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.59906	0.23;0.24	5.01	5.01	0.66863	.	0.000000	0.38837	N	0.001544	T	0.46521	0.1397	L	0.31926	0.97	0.47994	D	0.999567	B;P	0.44090	0.0;0.826	B;B	0.39152	0.002;0.292	T	0.43669	-0.9377	9	.	.	.	.	15.4363	0.75149	1.0:0.0:0.0:0.0	.	831;891	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	L	831;891	ENSP00000368436:F831L;ENSP00000326759:F891L	.	F	-	1	0	LRIG3	57556518	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.081000	0.76844	2.185000	0.69588	0.528000	0.53228	TTC		0.418	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59270251	A	G	59270251	3	3	196	1	0	0	0	0	1	0	0	0	8946	14	1	4	704	4	LRIG3	12	59270251	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08		59270251	74581644	38	13848											
LRIG3	121227	broad.mit.edu	37	chr12	59271192	59271192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttacacacctgtgttggtAatgctgcaatcttcattcct	8	16	7	10	0	2	0	1	0	1	0	3	0	3	0	2	1	3	5	2	1	3	6			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59271192A>G	ENST00000320743.3	-	15	2812	c.2526T>C	c.(2524-2526)atT>atC	p.I842I	LRIG3_ENST00000379141.4_Silent_p.I782I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	842					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGTGTTGGTAATGCTGCAAT	0.493			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2524-2526)atT>atC		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.							171	105	127					12																	59271192		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271192A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2526T>C	12.37:g.59271192A>G						LRIG3_uc009zqh.3_Silent_p.I782I|LRIG3_uc010ssh.2_Non-coding_Transcript	p.I842I	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		14	2772	-			842					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2526T>C	CCDS8960.1																																																																																				0.493	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59271192	A	G	59271192	2	3	196	1	0	0	0	0	0	0	0	1	8946	358	13	4		4	LRIG3	12	59271192	Silent	SNP	A	TCGA-27-2526-01A-01D-1494-08	941	59271192	74580703	39	13849											
PLBD2	196463	broad.mit.edu	37	chr12	113825637	113825637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctatctccgcccgctccGacctcaacccggccaatggc	7	7	8	19	4	2	0	1	0	1	0	4	1	3	0	6	2	2	2	6	2	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:113825637G>A	ENST00000280800.3	+	11	1559	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	PLBD2_ENST00000545182.2_Missense_Mutation_p.D478N	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	510					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCCCGCTCCGACCTCAACCC	0.617																																						uc001tve.2																			0		p.S509S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1528-1530)Gac>Aac		Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.							187	182	184					12																	113825637		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113825637G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1528G>A	12.37:g.113825637G>A	ENSP00000280800:p.Asp510Asn					PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	p.D510N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			10	1563	+			510					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1528G>A	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308375	0.95629	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.42131	0.98;0.98	5.07	5.07	0.68467	.	0.095672	0.64402	D	0.000001	T	0.76090	0.3939	H	0.95224	3.64	0.50171	D	0.99985	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84173	0.0435	10	0.87932	D	0	-54.5001	18.8433	0.92194	0.0:0.0:1.0:0.0	.	478;510	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	N	478;510	ENSP00000443463:D478N;ENSP00000280800:D510N	ENSP00000280800:D510N	D	+	1	0	PLBD2	112310020	1.000000	0.71417	0.960000	0.40013	0.733000	0.41908	9.123000	0.94387	2.533000	0.85409	0.555000	0.69702	GAC		0.617	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		A	113825637	G	A	113825637	3	1	196	1	0	0	0	0	1	0	0	0	12026	1058	37	2	1570	2	PLBD2	12	113825637	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	54554445	113825637	20026258	40	13850											
ZMYM2	7750	broad.mit.edu	37	chr13	20625722	20625722	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaactcagaaaggaccTgaaaacttacattatggtat	17	10	7	7	0	1	3	1	2	0	1	1	4	1	4	1	2	3	1	1	2	7	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr13:20625722T>C	ENST00000382874.2	+	14	2632	c.2442T>C	c.(2440-2442)ccT>ccC	p.P814P	ZMYM2_ENST00000382883.3_Silent_p.P296P|ZMYM2_ENST00000382869.3_Silent_p.P814P|ZMYM2_ENST00000382871.2_Silent_p.P814P	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAAAGGACCTGAAAACTTAC	0.368																																						uc001umr.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(2440-2442)ccT>ccC		Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.							87	87	87					13																	20625722		1901	4111	6012	SO:0001819	synonymous_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20625722T>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2442T>C	13.37:g.20625722T>C						ZMYM2_uc001ums.3_Silent_p.P814P|ZMYM2_uc021rgy.1_Silent_p.P814P|ZMYM2_uc001umt.3_Silent_p.P814P|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Silent_p.P194P|ZMYM2_uc001umw.3_Silent_p.P267P	p.P814P	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	13	2740	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	814					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	c.2442T>C	CCDS45016.1																																																																																				0.368	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		C	20625722	T	C	20625722	2	2	196	1	0	0	0	0	0	0	0	1	17697	1567	55	4		4	ZMYM2	13	20625722	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08		20625722	94544156	41	13851											
GALC	2581	broad.mit.edu	37	chr14	88416243	88416243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggatgtttttccaagtttGgtataccatacctgtagctc	8	16	8	9	1	0	0	0	0	0	0	3	1	1	1	3	2	3	5	3	2	5	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr14:88416243G>T	ENST00000261304.2	-	12	1390	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	GALC_ENST00000393569.2_Silent_p.T402T|GALC_ENST00000544807.2_Silent_p.T372T|GALC_ENST00000393568.4_Silent_p.T405T	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	428					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCAAGTTTGGTATACCATA	0.333																																						uc001xvt.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1282-1284)acC>acA		Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.							104	98	100					14																	88416243		1793	4069	5862	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88416243G>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1284C>A	14.37:g.88416243G>T						GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.T405T|GALC_uc010tvx.2_Silent_p.T402T|GALC_uc010tvz.1_Silent_p.T372T	p.T428T	NM_000153	NP_000144	P54803	GALC_HUMAN			11	1391	-			428					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.1284C>A	CCDS9878.2																																																																																				0.333	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			T	88416243	G	T	88416243	2	4	196	1	0	0	0	0	0	0	0	1	6201	1335	47	5		5	GALC	14	88416243	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08		88416243	18933297	42	13852											
CKMT1B	1159	broad.mit.edu	37	chr15	43891425	43891425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaacggcgtctggagagagGccaggatatccgcatcccca	10	6	13	12	3	1	2	0	1	1	1	3	5	3	4	4	4	1	1	4	4	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:43891425G>A	ENST00000441322.1	+	9	1568	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CKMT1B_ENST00000300283.6_Missense_Mutation_p.G403D			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	403					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTGGAGAGAGGCCAGGATATC	0.493																																						uc001zsc.3																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1207-1209)gGc>gAc		Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)						160	141	147					15																	43891425		2200	4293	6493	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891425G>A	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1208G>A	15.37:g.43891425G>A	ENSP00000413255:p.Gly403Asp					CKMT1B_uc010uds.2_Missense_Mutation_p.G434D|CKMT1B_uc010bdj.3_Non-coding_Transcript	p.G403D	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1600	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	403					B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1208G>A	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214667	0.58452	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.23552	1.9;1.9	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.82923	2.615	0.80722	D	1	P;P	0.38335	0.627;0.493	P;B	0.44477	0.451;0.044	T	0.52675	-0.8544	10	0.66056	D	0.02	6.4613	15.6816	0.77373	0.0:0.0:1.0:0.0	.	434;403	P12532-2;P12532	.;KCRU_HUMAN	D	403	ENSP00000300283:G403D;ENSP00000413255:G403D	ENSP00000300283:G403D	G	+	2	0	CKMT1B	41678717	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.813000	0.86123	2.247000	0.74100	0.313000	0.20887	GGC		0.493	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		A	43891425	G	A	43891425	3	1	196	1	0	0	0	0	1	0	0	0	3450	1203	42	3	1242	3	CKMT1B	15	43891425	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		43891425	58639967	43	13853											
FBN1	2200	broad.mit.edu	37	chr15	48760692	48760692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagtgttgacacagttcCcactgatgcacgtggttgga	8	11	13	9	1	0	2	0	2	0	0	1	4	1	4	1	3	1	4	1	3	0	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:48760692C>T	ENST00000316623.5	-	37	4954	c.4499G>A	c.(4498-4500)gGg>gAg	p.G1500E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1500	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACACAGTTCCCACTGATGCA	0.473																																						uc001zwx.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(4498-4500)gGg>gAg		Homo sapiens fibrillin 1 (FBN1), mRNA.							124	99	108					15																	48760692		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48760692C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4499G>A	15.37:g.48760692C>T	ENSP00000325527:p.Gly1500Glu					FBN1_uc010beo.2_5'Flank	p.G1500E	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	36	4894	-		all_lung(180;0.00279)	1500			EGF-like 26; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4499G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164274	0.94727	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94537	-3.45	5.64	5.64	0.86602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.091101	0.85682	D	0.000000	D	0.96944	0.9002	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96691	0.9511	10	0.62326	D	0.03	.	19.4873	0.95035	0.0:1.0:0.0:0.0	.	1500	P35555	FBN1_HUMAN	E	1500;68;390	ENSP00000325527:G1500E	ENSP00000325527:G1500E	G	-	2	0	FBN1	46547984	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GGG		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48760692	C	T	48760692	3	4	196	1	0	0	0	0	1	0	0	0	5702	623	22	3	4236	3	FBN1	15	48760692	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4869267	48760692	53770700	44	13854											
IGF1R	3480	broad.mit.edu	37	chr15	99251008	99251008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttccccaacctcacGgtcatccgcggctggaaact	8	8	8	17	3	3	0	2	0	1	0	5	2	5	1	5	3	2	1	5	3	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:99251008G>A	ENST00000268035.6	+	2	923	c.312G>A	c.(310-312)acG>acA	p.T104T	IGF1R_ENST00000558762.1_Silent_p.T104T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	104					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCAACCTCACGGTCATCCGCG	0.547																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(310-312)acG>acA		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						78	63	68					15																	99251008		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251008G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.312G>A	15.37:g.99251008G>A						IGF1R_uc010urq.2_Silent_p.T104T|IGF1R_uc010bon.3_Silent_p.T104T	p.T104T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		1	362	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		104					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.312G>A	CCDS10378.1																																																																																				0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		A	99251008	G	A	99251008	2	1	196	1	0	0	0	0	0	0	0	1	7571	1103	39	2		2	IGF1R	15	99251008	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08	50490316	99251008	3280384	45	13855											
RLTPR	146206	broad.mit.edu	37	chr16	67681065	67681065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctacaacctgtggttcCggtgcctctcctgtgtggac	4	13	11	13	1	1	0	0	0	1	0	4	1	3	1	5	3	3	1	5	3	2	2	rs550136705		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr16:67681065C>T	ENST00000334583.6	+	9	986	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R220W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	220					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGTGGTTCCGGTGCCTCTC	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		15065	0		0	False		,,,				2504	0					uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(658-660)Cgg>Tgg		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							45	49	47					16																	67681065		2009	4182	6191	SO:0001583	missense	146206							g.chr16:67681065C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.658C>T	16.37:g.67681065C>T	ENSP00000334958:p.Arg220Trp					RLTPR_uc010cel.1_Missense_Mutation_p.R220W|RLTPR_uc010vjr.2_Missense_Mutation_p.R220W	p.R220W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	8	778	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	220					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.658C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159319	0.78226	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	5.05	1.53	0.23141	.	1.086280	0.07243	N	0.864483	T	0.62307	0.2417	M	0.70108	2.13	0.30328	N	0.786885	D;D	0.71674	0.964;0.998	B;P	0.53988	0.232;0.739	T	0.56341	-0.7995	10	0.66056	D	0.02	-10.4963	7.239	0.26086	0.5323:0.3448:0.1229:0.0	.	220;220	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	W	220	ENSP00000334958:R220W;ENSP00000441481:R220W	ENSP00000334958:R220W	R	+	1	2	RLTPR	66238566	1.000000	0.71417	0.942000	0.38095	0.992000	0.81027	4.642000	0.61383	0.465000	0.27167	0.563000	0.77884	CGG		0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67681065	C	T	67681065	3	4	196	1	0	0	0	0	1	0	0	0	13394	643	23	2	692	2	RLTPR	16	67681065	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		67681065	22673688	46	13856											
C19orf28	126321	broad.mit.edu	37	chr19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcccacctgagtgccGtgagctccaccttctcatgg	6	9	10	16	1	1	2	1	2	1	0	4	2	3	2	5	2	2	2	5	2	0	1	rs372325734		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:3550991G>A	ENST00000355415.2	-	2	669	c.500C>T	c.(499-501)aCg>aTg	p.T167M	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.T167M|MFSD12_ENST00000389395.3_Missense_Mutation_p.T167M|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	167					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.T167M(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGAGTGCCGTGAGCTCCAC	0.627																																						uc002lxw.3																			2	Substitution - Missense(2)	p.T167M(3)	urinary_tract(2)	cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(499-501)aCg>aTg		Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.		G	MET/THR,MET/THR,MET/THR	0,3952		0,0,1976	16	18	18		500,500,500	5.1	0.9	19		18	1,8279		0,1,4139	no	missense,missense,missense	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	81,81,81	0,1,6115	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	167/474,167/539,167/481	3550991	1,12231	1976	4140	6116	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3550991G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.500C>T	19.37:g.3550991G>A	ENSP00000347583:p.Thr167Met					MFSD12_uc002lxx.3_Missense_Mutation_p.T167M|MFSD12_uc002lxy.3_Missense_Mutation_p.T158M|MFSD12_uc002lxz.3_Missense_Mutation_p.T167M	p.T167M	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN			1	670	-			167					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.500C>T	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593016	0.66219	0.0	1.21E-4	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80123	-1.34;-1.34;-1.34	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.978;0.968;0.991	D	0.90962	0.4813	10	0.72032	D	0.01	-19.9997	17.5569	0.87894	0.0:0.0:1.0:0.0	.	167;158;167	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	M	167	ENSP00000374046:T167M;ENSP00000381566:T167M;ENSP00000347583:T167M	ENSP00000347583:T167M	T	-	2	0	C19orf28	3501991	1.000000	0.71417	0.929000	0.37066	0.245000	0.25701	8.909000	0.92647	2.393000	0.81446	0.462000	0.41574	ACG		0.627	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		A	3550991	G	A	3550991	3	1	196	1	0	0	0	0	1	0	0	0	1917	1145	40	1	1185	1	C19orf28	19	3550991	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		3550991	55577992	47	13857											
MUC16	94025	broad.mit.edu	37	chr19	9021119	9021119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgacccatgtcctcccCatactgcaggttggtgatgg	7	10	13	11	0	0	2	0	2	0	0	2	2	2	2	4	4	2	2	4	4	1	2	rs568911449	byFrequency	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:9021119C>T	ENST00000397910.4	-	19	37407	c.37204G>A	c.(37204-37206)Ggg>Agg	p.G12402R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12404	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCTCCCCATACTGCAGG	0.547																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37204-37206)Ggg>Agg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							168	136	146					19																	9021119		1943	4145	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9021119C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37204G>A	19.37:g.9021119C>T	ENSP00000381008:p.Gly12402Arg						p.G12402R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			18	37408	-			12404			SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37204G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.838	0.721365	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	3.09	-4.02	0.04034	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.17098	0.017	T	0.24261	-1.0165	8	0.87932	D	0	.	3.5772	0.07938	0.172:0.3591:0.0:0.4689	.	12402	B5ME49	.	R	12402	ENSP00000381008:G12402R	ENSP00000381008:G12402R	G	-	1	0	MUC16	8882119	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.587000	0.02108	-0.953000	0.03645	0.455000	0.32223	GGG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9021119	C	T	9021119	3	4	196	1	0	0	0	0	1	0	0	0	9973	594	21	3	6583	3	MUC16	19	9021119	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	5470128	9021119	50107864	48	13858											
NWD1	284434	broad.mit.edu	37	chr19	16874718	16874718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccctatcacctgcttcActcgggccgcctggaggagc	5	9	12	15	2	2	0	2	0	0	0	3	2	2	2	4	3	3	2	4	3	1	3	rs111332125		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:16874718A>G	ENST00000552788.1	+	7	2213	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	NWD1_ENST00000524140.2_Missense_Mutation_p.H738R|NWD1_ENST00000549814.1_Missense_Mutation_p.H738R|NWD1_ENST00000523826.1_Missense_Mutation_p.H532R|NWD1_ENST00000339803.6_Missense_Mutation_p.H603R|NWD1_ENST00000379808.3_Missense_Mutation_p.H738R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	738							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTGCTTCACTCGGGCCGC	0.612																																						uc002neu.4																			0		p.T737T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2212-2214)cAc>cGc		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.							62	58	60					19																	16874718		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16874718A>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2213A>G	19.37:g.16874718A>G	ENSP00000447224:p.His738Arg					NWD1_uc002net.4_Missense_Mutation_p.H603R|NWD1_uc002nev.4_Missense_Mutation_p.H532R|NWD1_uc021uqg.1_Missense_Mutation_p.H603R	p.H738R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN			8	2635	+			738					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2213A>G		.	.	.	.	.	.	.	.	.	.	A	7.849	0.723491	0.15439	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55234	0.53;0.59;0.53;0.53;0.59;0.58	4.88	1.54	0.23209	.	0.347013	0.28488	N	0.015176	T	0.34803	0.0910	L	0.45352	1.415	0.09310	N	1	P;P;P	0.48764	0.915;0.902;0.842	B;B;B	0.43301	0.374;0.415;0.236	T	0.31194	-0.9952	10	0.07990	T	0.79	-5.2889	3.0349	0.06118	0.6178:0.0:0.2024:0.1797	.	738;738;603	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	603;738;738;738;532;738;603	ENSP00000428579:H738R;ENSP00000447548:H738R;ENSP00000369136:H738R;ENSP00000428955:H532R;ENSP00000447224:H738R;ENSP00000340159:H603R	ENSP00000340159:H603R	H	+	2	0	NWD1	16735718	0.079000	0.21365	0.034000	0.17996	0.606000	0.37113	1.991000	0.40727	-0.052000	0.13311	0.386000	0.25728	CAC		0.612	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		G	16874718	A	G	16874718	3	3	196	1	0	0	0	0	1	0	0	0	10781	159	6	4	1826	4	NWD1	19	16874718	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08	7853599	16874718	42254265	49	13859											
SYCP2	10388	broad.mit.edu	37	chr20	58471554	58471554	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaatcattgatgcttcAgacatttttcttttgctagg	11	16	7	7	0	3	2	2	1	1	1	3	3	3	2	0	1	3	2	0	1	3	7	rs555435833		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr20:58471554A>G	ENST00000357552.3	-	19	1659	c.1434T>C	c.(1432-1434)tcT>tcC	p.S478S	SYCP2_ENST00000371001.2_Silent_p.S478S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	478					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGATGCTTCAGACATTTTTC	0.313													A|||	1	0.000199681	0	0	5008	,	,		16236	0		0	False		,,,				2504	0.001					uc002yaz.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1432-1434)tcT>tcC		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							87	85	86					20																	58471554		2203	4296	6499	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58471554A>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1434T>C	20.37:g.58471554A>G							p.S478S	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		17	1573	-	all_lung(29;0.00344)		478					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.1434T>C	CCDS13482.1																																																																																				0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		G	58471554	A	G	58471554	2	3	196	1	0	0	0	0	0	0	0	1	15429	175	7	4		4	SYCP2	20	58471554	Silent	SNP	A	TCGA-27-2526-01A-01D-1494-08		58471554	4553966	50	13860											
SFRS15	57466	broad.mit.edu	37	chr21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgagaccgggccgggCgccaagaagaccagtagatg	11	4	17	9	3	0	4	0	1	0	4	0	6	0	5	4	3	0	1	4	3	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr21:33044602C>T	ENST00000286835.7	-	20	2936	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T|SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	852						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGGGCCGGGCGCCAAGAAGA	0.562																																						uc002ypd.2																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2554-2556)Gcc>Acc		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.							40	44	43					21																	33044602		2202	4298	6500	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044602C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2554G>A	21.37:g.33044602C>T	ENSP00000286835:p.Ala852Thr					SCAF4_uc002ype.2_Missense_Mutation_p.A830T|SCAF4_uc010glu.2_Missense_Mutation_p.A837T	p.A852T	NM_020706	NP_065757	O95104	SFR15_HUMAN			19	2980	-			852					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2554G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545734	0.45280	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.51325	0.84;0.83;0.71	5.13	4.25	0.50352	.	0.098933	0.44688	N	0.000435	T	0.24470	0.0593	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.40515	0.597;0.719;0.597	B;B;B	0.26310	0.031;0.068;0.031	T	0.06232	-1.0838	10	0.21540	T	0.41	-8.7758	13.7443	0.62865	0.0:0.9261:0.0:0.0739	.	837;830;852	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	T	837;852;830	ENSP00000402377:A837T;ENSP00000286835:A852T;ENSP00000382703:A830T	ENSP00000286835:A852T	A	-	1	0	SCAF4	31966473	1.000000	0.71417	0.853000	0.33588	0.986000	0.74619	5.083000	0.64456	1.396000	0.46663	0.555000	0.69702	GCC		0.562	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		T	33044602	C	T	33044602	3	4	196	1	0	0	0	0	1	0	0	0	14171	768	27	1	893	1	SFRS15	21	33044602	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		33044602	15085293	51	13861											
PITPNB	23760	broad.mit.edu	37	chr22	28310333	28310333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatggcaaaaccacaCggctaaaaagacaaaagaaa	23	2	7	9	1	0	3	0	0	0	3	0	3	0	3	1	2	2	2	1	2	9	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr22:28310333C>T	ENST00000335272.5	-	2	99	c.23G>A	c.(22-24)cGt>cAt	p.R8H	PITPNB_ENST00000455418.3_Missense_Mutation_p.R10H|PITPNB_ENST00000320996.10_Missense_Mutation_p.R8H	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	8					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						CAAAACCACACGGCTAAAAAG	0.318																																						uc011akh.2																			0				large_intestine(4)|lung(3)|skin(1)	8						c.(28-30)cGt>cAt		Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.							54	48	50					22																	28310333		2203	4296	6499	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28310333C>T	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.23G>A	22.37:g.28310333C>T	ENSP00000334738:p.Arg8His					PITPNB_uc003adk.3_Missense_Mutation_p.R8H|PITPNB_uc003adl.3_Missense_Mutation_p.R8H	p.R10H	NM_012399	NP_036531	P48739	PIPNB_HUMAN			1	101	-			8					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.29G>A	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442340	0.83993	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000436663	T;T;T;T	0.56941	0.74;0.74;0.74;0.43	5.63	5.63	0.86233	START-like domain (1);	0.052951	0.85682	D	0.000000	T	0.76026	0.3930	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.71870	0.975;0.974;0.944	T	0.78011	-0.2371	10	0.56958	D	0.05	-9.3505	18.6301	0.91357	0.0:1.0:0.0:0.0	.	10;8;8	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	H	8;8;10;10	ENSP00000334738:R8H;ENSP00000321266:R8H;ENSP00000405179:R10H;ENSP00000403675:R10H	ENSP00000321266:R8H	R	-	2	0	PITPNB	26640333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.786000	0.55431	2.814000	0.96858	0.591000	0.81541	CGT		0.318	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			T	28310333	C	T	28310333	3	4	196	1	0	0	0	0	1	0	0	0	11948	536	19	1	832	1	PITPNB	22	28310333	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		28310333	22994233	52	13862											
PNMA3	29944	broad.mit.edu	37	chrX	152226004	152226004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagatgtggcaggtgcccGagggggaaaagaggcggagg	11	4	20	6	2	0	2	0	0	0	2	0	5	0	4	1	7	2	1	1	7	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:152226004G>A	ENST00000370264.4	+	1	618	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E198K|PNMA3_ENST00000447306.1_Missense_Mutation_p.E198K			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577																																						uc022cho.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(592-594)Gag>Aag		Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.							63	62	62					X																	152226004		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226004G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.592G>A	X.37:g.152226004G>A	ENSP00000359286:p.Glu198Lys					PNMA3_uc004fhc.2_Missense_Mutation_p.E198K|PNMA3_uc004fhd.3_5'Flank	p.E198K	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			0	592	+	Acute lymphoblastic leukemia(192;6.56e-05)		198					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.592G>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	14.91	2.676616	0.47886	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.14144	2.53;2.53;2.53	1.98	1.98	0.26296	.	.	.	.	.	T	0.30166	0.0756	M	0.73430	2.235	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.03795	-1.1003	9	0.62326	D	0.03	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	198	Q9UL41	PNMA3_HUMAN	K	198	ENSP00000359288:E198K;ENSP00000407642:E198K;ENSP00000359286:E198K	ENSP00000359286:E198K	E	+	1	0	PNMA3	151976660	0.076000	0.21285	0.005000	0.12908	0.005000	0.04900	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GAG		0.577	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		A	152226004	G	A	152226004	3	1	196	1	0	0	0	0	1	0	0	0	12155	1059	37	2	594	2	PNMA3	23	152226004	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		152226004	3044556	53	13863											
TAS1R2	80834	broad.mit.edu	37	chr1	19181421	19181421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgctgggtgtggtacgCagcaaagccgggaagcgcac	8	5	17	11	5	0	0	0	0	0	0	1	1	0	1	1	4	4	5	1	4	3	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:19181421C>T	ENST00000375371.3	-	3	564	c.543G>A	c.(541-543)ctG>ctA	p.L181L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	181					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTGTGGTACGCAGCAAAGCCG	0.622																																						uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(541-543)ctG>ctA		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						49	48	49					1																	19181421		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181421C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.543G>A	1.37:g.19181421C>T							p.L181L	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	544	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	181					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.543G>A	CCDS187.1																																																																																				0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19181421	C	T	19181421	2	4	197	1	0	0	0	0	0	0	0	1	15560	697	25	3		3	TAS1R2	1	19181421	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08		19181421	230069200	1	13864											
COL16A1	1307	broad.mit.edu	37	chr1	32126216	32126216	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggaccgggtcttccctgGggtcccatggcaccaggttc	4	8	16	13	1	1	0	0	0	1	0	4	1	3	1	4	7	0	2	4	7	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:32126216G>T	ENST00000373672.3	-	62	4365	c.3849C>A	c.(3847-3849)ccC>ccA	p.P1283P	RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|COL16A1_ENST00000271069.6_Silent_p.P1283P|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1283	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTTCCCTGGGGTCCCATGG	0.547																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3847-3849)ccC>ccA		Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.							66	70	69					1																	32126216		1900	4120	6020	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32126216G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3849C>A	1.37:g.32126216G>T						COL16A1_uc001btj.1_Silent_p.P1081P	p.P1283P	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	61	4214	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1283			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.3849C>A	CCDS41297.1																																																																																				0.547	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32126216	G	T	32126216	2	4	197	1	0	0	0	0	0	0	0	1	3673	1219	43	5		5	COL16A1	1	32126216	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	12944795	32126216	217124405	2	13865											
DAB1	1600	broad.mit.edu	37	chr1	57491656	57491656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagcaatgcatacttacggGgggagaggttatatcagggg	12	8	16	5	1	1	2	1	0	0	2	1	3	1	2	0	6	4	3	0	6	5	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:57491656G>A	ENST00000371231.1	-	11	917	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	DAB1_ENST00000414851.2_Missense_Mutation_p.P244S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.P262S|DAB1_ENST00000420954.2_Missense_Mutation_p.P260S|DAB1_ENST00000439789.2_Missense_Mutation_p.P176S|DAB1_ENST00000371234.4_Missense_Mutation_p.P262S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	295				P -> S (in Ref. 6; AAH67447). {ECO:0000305}.	adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATACTTACGGGGGGAGAGGTT	0.463																																						uc009vzx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(784-786)Ccc>Tcc		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.							125	131	129					1																	57491656		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57491656G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.883C>T	1.37:g.57491656G>A	ENSP00000360275:p.Pro295Ser					DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc001cys.1_Missense_Mutation_p.P262S	p.P262S	NM_021080	NP_066566	O75553	DAB1_HUMAN			9	1104	-			295					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	G	6.334	0.429802	0.11987	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232	T;T;T;T;T;T;T	0.43294	1.03;1.03;0.95;1.03;2.04;1.03;0.99	5.65	5.65	0.86999	.	0.163733	0.56097	D	0.000027	T	0.12987	0.0315	N	0.00436	-1.5	0.36268	D	0.854988	B;B;B;B;B	0.20780	0.048;0.0;0.028;0.035;0.0	B;B;B;B;B	0.23419	0.046;0.001;0.015;0.013;0.003	T	0.32268	-0.9913	10	0.07813	T	0.8	-50.743	12.9811	0.58564	0.0749:0.0:0.9251:0.0	.	244;295;262;176;260	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	262;262;262;260;244;176;295;176	ENSP00000360280:P262S;ENSP00000360278:P262S;ENSP00000395296:P260S;ENSP00000387581:P244S;ENSP00000409328:P176S;ENSP00000360275:P295S;ENSP00000360276:P176S	ENSP00000360275:P295S	P	-	1	0	DAB1	57264244	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.226000	0.65299	2.826000	0.97356	0.563000	0.77884	CCC		0.463	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		A	57491656	G	A	57491656	3	1	197	1	0	0	0	0	1	0	0	0	4217	1232	43	3	903	3	DAB1	1	57491656	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	25365440	57491656	191758965	3	13866											
HFM1	164045	broad.mit.edu	37	chr1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaatacttctaaattttgCcgcttacaataacattaagg	16	13	5	7	1	1	0	0	0	1	0	1	1	1	0	1	1	4	1	1	1	9	8			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:91846537C>T	ENST00000370425.3	-	7	903	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	269					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A269T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219																																						uc001doa.4																			1	Substitution - Missense(1)	p.P268L(2)|p.A269T(2)	kidney(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(805-807)Gca>Aca		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							54	63	60					1																	91846537		2194	4294	6488	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846537C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.805G>A	1.37:g.91846537C>T	ENSP00000359454:p.Ala269Thr					HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.A269T	p.A269T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	6	904	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	269					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.805G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054465	0.19907	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.58797	0.31	5.81	2.87	0.33458	.	0.000000	0.45606	U	0.000360	T	0.29093	0.0723	L	0.54323	1.7	0.80722	D	1	B;B	0.15719	0.014;0.002	B;B	0.08055	0.003;0.003	T	0.09100	-1.0690	10	0.23891	T	0.37	.	8.468	0.32969	0.0:0.5885:0.0:0.4115	.	269;269	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	269;302;128	ENSP00000359454:A269T	ENSP00000359454:A269T	A	-	1	0	HFM1	91619125	0.079000	0.21365	0.903000	0.35520	0.987000	0.75469	0.529000	0.23019	0.339000	0.23719	-0.136000	0.14681	GCA		0.219	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91846537	C	T	91846537	3	4	197	1	0	0	0	0	1	0	0	0	7083	739	26	3	3634	3	HFM1	1	91846537	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	34354881	91846537	157404084	4	13867											
CCDC18	343099	broad.mit.edu	37	chr1	93649564	93649564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgaaaattctgattatgCccctaatccttcaaggtctg	12	13	7	9	0	3	2	1	2	2	0	4	2	4	2	3	1	1	0	3	1	6	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:93649564C>T	ENST00000343253.7	+	3	666	c.164C>T	c.(163-165)gCc>gTc	p.A55V	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.A55V|CCDC18_ENST00000557479.1_Missense_Mutation_p.A173V			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	55										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTGATTATGCCCCTAATCCT	0.323																																						uc021opx.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(163-165)gCc>gTc		Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.							135	124	128					1																	93649564		1817	4079	5896	SO:0001583	missense	343099							g.chr1:93649564C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.164C>T	1.37:g.93649564C>T	ENSP00000343377:p.Ala55Val						p.A55V	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	2	325	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	55					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.164C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.65|10.65	1.409019|1.409019	0.25378|0.25378	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	6.02|6.02	1.76|1.76	0.24704|0.24704	.|.	0.970833|.	0.08508|.	N|.	0.935394|.	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	0.999996|0.999996	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.39981|0.39981	-0.9587|-0.9587	9|5	0.05620|.	T|.	0.96|.	.|.	1.3244|1.3244	0.02123|0.02123	0.1476:0.4085:0.2312:0.2127|0.1476:0.4085:0.2312:0.2127	.|.	173|.	G3V388|.	.|.	V|S	55;55;173|109	.|.	ENSP00000343377:A55V|.	A|P	+|+	2|1	0|0	CCDC18|CCDC18	93422152|93422152	0.000000|0.000000	0.05858|0.05858	0.498000|0.498000	0.27564|0.27564	0.834000|0.834000	0.47266|0.47266	-0.286000|-0.286000	0.08399|0.08399	0.793000|0.793000	0.33875|0.33875	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		T	93649564	C	T	93649564	3	4	197	1	0	0	0	0	1	0	0	0	2794	739	26	3	528	3	CCDC18	1	93649564	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	1803027	93649564	155601057	5	13868											
PHGDH	26227	broad.mit.edu	37	chr1	120285535	120285535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggctgtgggcttggtcCaaggcactacgcctgtactg	7	9	13	12	1	0	0	0	0	0	0	1	0	1	0	3	4	2	4	3	4	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:120285535C>G	ENST00000369409.4	+	11	1451	c.1315C>G	c.(1315-1317)Caa>Gaa	p.Q439E	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.Q405E	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	439					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GGGCTTGGTCCAAGGCACTAC	0.657																																						uc001ehz.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1315-1317)Caa>Gaa		Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	NADH(DB00157)						54	56	55					1																	120285535		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120285535C>G	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1315C>G	1.37:g.120285535C>G	ENSP00000358417:p.Gln439Glu					PHGDH_uc009whm.3_Missense_Mutation_p.Q337E|PHGDH_uc001eib.3_Missense_Mutation_p.Q405E	p.Q439E	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	10	1542	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	439					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1315C>G	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374861	0.42105	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.85702	-2.02;-2.02	5.96	5.96	0.96718	.	0.226223	0.48767	N	0.000169	T	0.79399	0.4439	M	0.64997	1.995	0.42602	D	0.993287	B;B;P;P	0.44044	0.304;0.304;0.825;0.555	B;B;B;B	0.40375	0.079;0.079;0.327;0.12	T	0.80313	-0.1435	10	0.39692	T	0.17	-5.8613	15.8929	0.79315	0.0:1.0:0.0:0.0	.	405;405;312;439	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	E	439;312;405	ENSP00000358417:Q439E;ENSP00000358415:Q405E	ENSP00000358415:Q405E	Q	+	1	0	PHGDH	120087058	1.000000	0.71417	0.996000	0.52242	0.089000	0.18198	5.374000	0.66167	2.813000	0.96785	0.655000	0.94253	CAA		0.657	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		G	120285535	C	G	120285535	3	3	197	1	0	0	0	0	1	0	0	0	11841	595	21	5	1357	5	PHGDH	1	120285535	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	26635971	120285535	128965086	6	13869											
THBS3	7059	broad.mit.edu	37	chr1	155170717	155170719	+	In_Frame_Del	DEL	CAT	CAT	-																															cttgatcccatccccatcagCatcatcatcacactggtccc																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155170717_155170719delCAT	ENST00000368378.3	-	13	1537_1539	c.1517_1519delATG	c.(1516-1521)gatgct>gct	p.D506del	RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_In_Frame_Del_p.D35del|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_De_novo_Start_InFrame|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_In_Frame_Del_p.D386del	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	506					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCATCAGCATCATCATCACA	0.542																																						uc001fix.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1516-1521)gatgct>gct		Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170717_155170719delCAT	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1517_1519delATG	1.37:g.155170723_155170725delCAT	ENSP00000357362:p.Asp506del					THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_In_Frame_Del_p.D386del|THBS3_uc009wqi.3_In_Frame_Del_p.D497del|THBS3_uc001fiy.3_In_Frame_Del_p.D35del|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	p.D506del	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		12	1622_1624	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		506					B1AVR8|B4DQ20|Q8WV34	In_Frame_Del	DEL	ENST00000368378.3	37	c.1517_1519delATG	CCDS1099.1																																																																																				0.542	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		-	155170719	CAT	-	155170717	7	5	197	1	0	1	0	1	0	0	0	0	15852	710	25	0	1395	0	THBS3	1	155170717	In_Frame_Del	DEL	CAT	TCGA-27-2527-01A-01D-1494-08	34885182	155170717	94079904	7	13870											
YY1AP1	55249	broad.mit.edu	37	chr1	155629578	155629578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcggctccagagcttgccttCcctcctctgttttcacaacg	5	12	8	16	2	2	1	1	0	1	1	5	1	5	1	4	1	3	3	4	1	1	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155629578C>G	ENST00000295566.4	-	11	2284	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	YY1AP1_ENST00000361831.5_Missense_Mutation_p.G697A|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G697A|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G677A|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G846A|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G677A|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G708A|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G688A|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G708A|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G554A|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G708A|YY1AP1_ENST00000368340.5_Missense_Mutation_p.G826A	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	754					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGCTTGCCTTCCCTCCTCTGT	0.527																																						uc010pgi.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2536-2538)gGa>gCa		Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.							131	121	124					1																	155629578		2203	4300	6503	SO:0001583	missense	55249				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155629578C>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2261G>C	1.37:g.155629578C>G	ENSP00000295566:p.Gly754Ala					GON4L_uc021paz.1_Missense_Mutation_p.G688A|GON4L_uc010pgg.2_Missense_Mutation_p.G593A|GON4L_uc010pgh.2_Missense_Mutation_p.G697A|GON4L_uc009wqt.3_Missense_Mutation_p.G677A|GON4L_uc001flh.3_Missense_Mutation_p.G826A|GON4L_uc001fll.3_Missense_Mutation_p.G708A|GON4L_uc001flk.3_Missense_Mutation_p.G697A|GON4L_uc001flm.3_Missense_Mutation_p.G697A|GON4L_uc009wqu.3_Missense_Mutation_p.G541A|GON4L_uc009wqv.3_Missense_Mutation_p.G425A|GON4L_uc009wqw.3_Missense_Mutation_p.G677A|GON4L_uc001flj.3_Missense_Mutation_p.G688A|GON4L_uc001fli.3_Missense_Mutation_p.G708A|GON4L_uc001flo.3_Missense_Mutation_p.G642A|GON4L_uc001fln.3_Missense_Mutation_p.G754A|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.G708A	p.G846A	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN			9	2729	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1298					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2537G>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896635	0.52121	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.34072	1.48;1.48;1.56;1.48;1.48;1.46;1.52;1.48;1.56;1.55;1.38;1.58	2.57	1.63	0.23807	.	0.376587	0.25875	N	0.027732	T	0.34948	0.0915	L	0.56769	1.78	0.23550	N	0.99744	P;D;D;D;D	0.61697	0.817;0.977;0.99;0.971;0.99	P;P;D;P;P	0.72625	0.451;0.718;0.978;0.641;0.819	T	0.09596	-1.0667	10	0.72032	D	0.01	.	7.3926	0.26919	0.0:0.8668:0.0:0.1332	.	846;688;754;708;826	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	A	697;708;677;708;697;826;754;708;677;688;846;554	ENSP00000352134:G697A;ENSP00000347686:G708A;ENSP00000311138:G677A;ENSP00000316079:G708A;ENSP00000355298:G697A;ENSP00000357324:G826A;ENSP00000295566:G754A;ENSP00000357314:G708A;ENSP00000385791:G677A;ENSP00000385390:G688A;ENSP00000357323:G846A;ENSP00000437926:G554A	ENSP00000295566:G754A	G	-	2	0	YY1AP1	153896202	0.001000	0.12720	0.290000	0.24890	0.406000	0.30931	0.625000	0.24477	0.400000	0.25396	0.313000	0.20887	GGA		0.527	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		G	155629578	C	G	155629578	3	3	197	1	0	0	0	0	1	0	0	0	17505	855	30	5	133	5	YY1AP1	1	155629578	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	458861	155629578	93621043	8	13871											
CFHR3	10878	broad.mit.edu	37	chr1	196749091	196749091	+	Missense_Mutation	SNP	T	T	C																															gctggtctcctactcccagaTgcatccgtgtcagtaagtac																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749091T>C	ENST00000367425.4	+	3	510	c.418T>C	c.(418-420)Tgc>Cgc	p.C140R	CFHR3_ENST00000391985.3_Missense_Mutation_p.C140R|CFHR3_ENST00000471440.2_Missense_Mutation_p.C140R	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	140	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TACTCCCAGATGCATCCGTGT	0.493																																						uc001gtl.3																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(418-420)Tgc>Cgc		Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.							87	85	86					1																	196749091		1906	4137	6043	SO:0001583	missense	10878				complement activation	extracellular space		g.chr1:196749091T>C	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.418T>C	1.37:g.196749091T>C	ENSP00000356395:p.Cys140Arg					CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.C140R|CFHR1_uc010poy.2_Missense_Mutation_p.C140R|CFHR1_uc001gtm.3_Intron	p.C140R	NM_021023	NP_066303	Q03591	FHR1_HUMAN			2	505	+			140			Sushi 2.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.418T>C	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434387	0.43224	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	D;D;D	0.99778	-6.73;-6.73;-6.73	3.67	3.67	0.42095	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99829	0.9923	H	0.96720	3.87	0.30394	N	0.780746	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	D	0.97060	0.9770	9	0.87932	D	0	.	9.0557	0.36403	0.0:0.0:0.0:1.0	.	140;140;140	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	R	140	ENSP00000356395:C140R;ENSP00000436258:C140R;ENSP00000375845:C140R	ENSP00000356395:C140R	C	+	1	0	CFHR3	195015714	0.914000	0.31030	0.138000	0.22173	0.014000	0.08584	3.273000	0.51623	1.459000	0.47892	0.327000	0.21459	TGC		0.493	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		C	196749091	T	C	196749091	3	2	197	1	0	0	0	0	1	0	0	0	3286	1464	51	4	428	4	CFHR3	1	196749091	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	41119513	196749091	52501530	9	13872	16	2									
CFHR3	10878	broad.mit.edu	37	chr1	196749101	196749101	+	Missense_Mutation	SNP	T	T	A																															tactcccagatgcatccgtgTcagtaagtacaccgctctga																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749101T>A	ENST00000367425.4	+	3	520	c.428T>A	c.(427-429)gTc>gAc	p.V143D	CFHR3_ENST00000391985.3_Missense_Mutation_p.V143D|CFHR3_ENST00000471440.2_Missense_Mutation_p.V143D	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	143				V -> D (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TGCATCCGTGTCAGTAAGTAC	0.478																																						uc001gtl.3																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(427-429)gTc>gAc		Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.							80	79	80					1																	196749101		1904	4138	6042	SO:0001583	missense	10878				complement activation	extracellular space		g.chr1:196749101T>A	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.428T>A	1.37:g.196749101T>A	ENSP00000356395:p.Val143Asp					CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.V143D|CFHR1_uc010poy.2_Missense_Mutation_p.V143D|CFHR1_uc001gtm.3_Intron	p.V143D	NM_021023	NP_066303	Q03591	FHR1_HUMAN			2	515	+			143					B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.428T>A	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	t	14.32	2.500015	0.44455	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.75260	0.57;0.57;-0.92	3.67	-3.1	0.05315	Complement control module (1);	.	.	.	.	T	0.69242	0.3089	L	0.40543	1.245	0.09310	N	1	P;D;D	0.69078	0.766;0.997;0.989	P;D;P	0.65987	0.663;0.94;0.612	T	0.59553	-0.7433	9	0.15499	T	0.54	.	0.5646	0.00685	0.1701:0.2192:0.1744:0.4364	.	143;143;143	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	D	143	ENSP00000356395:V143D;ENSP00000436258:V143D;ENSP00000375845:V143D	ENSP00000356395:V143D	V	+	2	0	CFHR3	195015724	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.513000	0.06305	-0.345000	0.08325	-1.003000	0.02500	GTC		0.478	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		A	196749101	T	A	196749101	3	1	197	1	0	0	0	0	1	0	0	0	3286	1667	58	5	438	5	CFHR3	1	196749101	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	10	196749101	52501520	10	13873	16	2									
OR2G2	81470	broad.mit.edu	37	chr1	247752159	247752159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtacagtccaccctcacCctgcagctgcccttctgtgg	5	10	9	17	0	2	0	1	0	1	0	3	0	3	0	4	2	4	3	4	2	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:247752159C>T	ENST00000320065.1	+	1	498	c.498C>T	c.(496-498)acC>acT	p.T166T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T166T(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCACCCTCACCCTGCAGCTGC	0.542																																						uc010pyy.2																			1	Substitution - coding silent(1)	p.T166T(2)	endometrium(1)	endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(496-498)acC>acT		Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.							191	174	180					1																	247752159		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752159C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.498C>T	1.37:g.247752159C>T							p.T166T	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	498	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		166					Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.498C>T	CCDS31092.1																																																																																				0.542	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			T	247752159	C	T	247752159	2	4	197	1	0	0	0	0	0	0	0	1	10998	610	22	3		3	OR2G2	1	247752159	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	51003058	247752159	1498462	11	13874											
NRXN1	9378	broad.mit.edu	37	chr2	50850508	50850508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattatcattaaactttcCattcacaggctccactagtg	11	13	6	11	0	2	0	2	0	0	0	4	0	4	0	2	2	1	2	2	2	4	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:50850508C>T	ENST00000406316.2	-	6	2554	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	NRXN1_ENST00000402717.3_Missense_Mutation_p.G360R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G360R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G360R|NRXN1_ENST00000406859.3_Missense_Mutation_p.G360R|NRXN1_ENST00000404971.1_Missense_Mutation_p.G393R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	360	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458																																						uc021vhh.1																			3	Substitution - Nonsense(3)	p.G393*(1)|p.G394*(1)|p.G360*(1)	lung(3)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1078-1080)Gga>Aga		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							82	79	80					2																	50850508		1924	4149	6073	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50850508C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1078G>A	2.37:g.50850508C>T	ENSP00000384311:p.Gly360Arg					NRXN1_uc002rxb.4_Missense_Mutation_p.G40R|NRXN1_uc021vhg.1_Missense_Mutation_p.G393R|NRXN1_uc021vhi.1_Missense_Mutation_p.G389R|NRXN1_uc021vhj.1_Missense_Mutation_p.G356R|NRXN1_uc002rxc.1_Non-coding_Transcript	p.G360R	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1999	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	360			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1078G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532430	0.85812	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.42245	1.32	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.985;1.0;1.0	T	0.81136	-0.1070	10	0.29301	T	0.29	.	19.9038	0.96999	0.0:1.0:0.0:0.0	.	393;360;360	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	393;360;360;360;394;360;360	ENSP00000385142:G393R;ENSP00000384311:G360R;ENSP00000434015:G360R;ENSP00000385017:G360R;ENSP00000385434:G360R;ENSP00000385681:G360R	ENSP00000385017:G360R	G	-	1	0	NRXN1	50704012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.708000	0.92522	0.557000	0.71058	GGA		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50850508	C	T	50850508	3	4	197	1	0	0	0	0	1	0	0	0	10665	603	21	3	3801	3	NRXN1	2	50850508	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		50850508	192348865	12	13875											
PROM2	150696	broad.mit.edu	37	chr2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcaaggaaggggcagCgctctggacagtcctgcagc	9	5	16	11	1	1	0	0	0	1	0	2	2	2	2	1	4	4	5	1	4	2	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:95947910C>T	ENST00000317620.9	+	14	1797	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PROM2_ENST00000317668.4_Missense_Mutation_p.A555V|PROM2_ENST00000542147.1_Missense_Mutation_p.A555V|PROM2_ENST00000403131.2_Missense_Mutation_p.A555V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	555					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGGGCAGCGCTCTGGACA	0.627																																						uc002suk.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1663-1665)gCg>gTg		Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.							54	48	50					2																	95947910		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947910C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1664C>T	2.37:g.95947910C>T	ENSP00000318270:p.Ala555Val					PROM2_uc002suh.2_Missense_Mutation_p.A555V|PROM2_uc002sui.3_Missense_Mutation_p.A555V|PROM2_uc002suj.3_Missense_Mutation_p.A209V|PROM2_uc002sul.3_Missense_Mutation_p.A81V|PROM2_uc002sum.3_Non-coding_Transcript	p.A555V	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN			13	1797	+			555					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1664C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966617	0.34659	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.22	1.37	0.22104	.	0.995724	0.08141	N	0.991609	T	0.34774	0.0909	L	0.31578	0.945	0.09310	N	1	B	0.23316	0.083	B	0.19666	0.026	T	0.26573	-1.0099	10	0.40728	T	0.16	-4.6958	7.6184	0.28171	0.0:0.6453:0.0:0.3547	.	555	Q8N271	PROM2_HUMAN	V	555	ENSP00000385716:A555V;ENSP00000318520:A555V;ENSP00000318270:A555V;ENSP00000442542:A555V	ENSP00000318270:A555V	A	+	2	0	PROM2	95311637	0.008000	0.16893	0.001000	0.08648	0.957000	0.61999	0.462000	0.21956	-0.027000	0.13873	-0.291000	0.09656	GCG		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		T	95947910	C	T	95947910	3	4	197	1	0	0	0	0	1	0	0	0	12556	768	27	1	1718	1	PROM2	2	95947910	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	45097402	95947910	147251463	13	13876											
MCM6	4175	broad.mit.edu	37	chr2	136630337	136630337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtccacaaaactcacaaCcaatgtgtttctctcaggac	13	9	6	13	0	3	0	2	0	1	0	5	1	4	1	2	2	2	1	2	2	4	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:136630337C>G	ENST00000264156.2	-	2	244	c.184G>C	c.(184-186)Gtt>Ctt	p.V62L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	62					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AAACTCACAACCAATGTGTTT	0.403																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(184-186)Gtt>Ctt		Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	Atorvastatin(DB01076)						171	159	163					2																	136630337		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630337C>G		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.184G>C	2.37:g.136630337C>G	ENSP00000264156:p.Val62Leu						p.V62L	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	1	260	-			62					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.184G>C	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162613	0.38217	.	.	ENSG00000076003	ENST00000264156	T	0.11604	2.76	5.85	4.98	0.66077	Nucleic acid-binding, OB-fold-like (1);	0.487974	0.22789	N	0.055622	T	0.04092	0.0114	N	0.04355	-0.22	0.30099	N	0.807646	B	0.02656	0.0	B	0.04013	0.001	T	0.32587	-0.9901	10	0.12430	T	0.62	-11.4085	5.4599	0.16612	0.0:0.6391:0.162:0.1989	.	62	Q14566	MCM6_HUMAN	L	62	ENSP00000264156:V62L	ENSP00000264156:V62L	V	-	1	0	MCM6	136346807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.886000	0.28241	1.481000	0.48307	0.655000	0.94253	GTT		0.403	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		G	136630337	C	G	136630337	3	3	197	1	0	0	0	0	1	0	0	0	9391	507	18	5	2345	5	MCM6	2	136630337	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	40682427	136630337	106569036	14	13877											
TTN	7273	broad.mit.edu	37	chr2	179458739	179458739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctgtactgttctccaCaaccacacagtatttgccgg	10	10	8	13	1	1	1	0	0	1	1	2	1	1	1	4	1	4	3	4	1	3	4	rs368431326		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:179458739C>T	ENST00000591111.1	-	247	53682	c.53458G>A	c.(53458-53460)Gtg>Atg	p.V17820M	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19461M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16893M|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10588M|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V10396M|TTN_ENST00000359218.5_Missense_Mutation_p.V10521M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17820	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTCTCCACAACCACACAG	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50677-50679)Gtg>Atg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							185	182	183					2																	179458739		1998	4177	6175	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458739C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53458G>A	2.37:g.179458739C>T	ENSP00000465570:p.Val17820Met					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10588M|TTN_uc021vta.1_Missense_Mutation_p.V10521M|TTN_uc021vtb.1_Missense_Mutation_p.V10396M	p.V16893M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50902	-			17820			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50677G>A		.	.	.	.	.	.	.	.	.	.	C	14.13	2.444500	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83635	0.5297	M	0.68728	2.09	0.53688	D	0.999971	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.66497	0.925;0.925;0.944;0.944	T	0.83344	-0.0006	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10396;10521;10588;17820	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16893;10396;10588;10521;10394	ENSP00000343764:V16893M;ENSP00000434586:V10396M;ENSP00000340554:V10588M;ENSP00000352154:V10521M	ENSP00000340554:V10588M	V	-	1	0	TTN	179166985	0.737000	0.28175	1.000000	0.80357	0.919000	0.55068	1.416000	0.34759	2.941000	0.99782	0.655000	0.94253	GTG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179458739	C	T	179458739	3	4	197	1	0	0	0	0	1	0	0	0	16732	478	17	3	49862	3	TTN	2	179458739	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	42828402	179458739	63740634	15	13878											
ALS2CR12	130540	broad.mit.edu	37	chr2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctgtggagttcttgcGtggtagttgaggggtcttga	5	14	15	7	1	2	2	0	2	2	0	3	3	3	3	1	4	1	3	1	4	1	5	rs143899839		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:202216040G>A	ENST00000286190.5	-	1	134	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R30C|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R30C|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R30C|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	30					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GAGTTCTTGCGTGGTAGTTGA	0.517																																						uc010ftg.3																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(88-90)Cgc>Tgc		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	97	90	92		88,88	-6.3	0	2	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	30/423,30/446	202216040	2,13004	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216040G>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.88C>T	2.37:g.202216040G>A	ENSP00000286190:p.Arg30Cys					ALS2CR12_uc002uya.4_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.3_Non-coding_Transcript	p.R30C	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			1	532	-			30					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.88C>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045144	0.19748	4.54E-4	0.0	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.46819	0.95;0.95;0.95;0.95;0.86	4.5	-6.3	0.02007	.	2.199660	0.01267	N	0.009350	T	0.33527	0.0866	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.17198	-1.0377	10	0.46703	T	0.11	12.8256	4.4867	0.11794	0.1088:0.1744:0.5378:0.179	.	30;30	Q96Q35;G5E9S3	AL2SB_HUMAN;.	C	30	ENSP00000286190:R30C;ENSP00000385098:R30C;ENSP00000376086:R30C;ENSP00000412073:R30C;ENSP00000407585:R30C	ENSP00000286190:R30C	R	-	1	0	ALS2CR12	201924285	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.351000	0.07711	-1.209000	0.02631	-1.131000	0.01979	CGC		0.517	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		A	202216040	G	A	202216040	3	1	197	1	0	0	0	0	1	0	0	0	553	1145	40	1	1305	1	ALS2CR12	2	202216040	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	22757301	202216040	40983333	16	13879											
THAP4	51078	broad.mit.edu	37	chr2	242573479	242573479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggattagacgttttgaGtcctttagggggaacctaca	10	13	11	7	1	0	2	0	1	0	1	1	4	1	4	2	3	2	1	2	3	4	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:242573479G>A	ENST00000407315.1	-	2	524	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	31							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTTTTGAGTCCTTTAGGG	0.353																																						uc002wbt.3																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(91-93)gaC>gaT		Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.							67	77	74					2																	242573479		2200	4294	6494	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242573479G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.93C>T	2.37:g.242573479G>A							p.D31D	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	1	386	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	31					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.93C>T	CCDS2551.1																																																																																				0.353	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		A	242573479	G	A	242573479	2	1	197	1	0	0	0	0	0	0	0	1	15843	1020	36	3		3	THAP4	2	242573479	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	40357439	242573479	625894	17	13880											
FANCD2	2177	broad.mit.edu	37	chr3	10108908	10108908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattgtaaatgccttcTgccaggaaacatcacctgag	12	10	9	10	0	2	2	1	1	1	1	2	3	2	3	3	1	4	2	3	1	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10108908T>C	ENST00000419585.1	+	26	2562	c.2401T>C	c.(2401-2403)Tgc>Cgc	p.C801R	FANCD2_ENST00000383807.1_Missense_Mutation_p.C801R|FANCD2_ENST00000383806.1_Missense_Mutation_p.C801R|FANCD2_ENST00000287647.3_Missense_Mutation_p.C801R			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	801					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATGCCTTCTGCCAGGAAAC	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2401-2403)Tgc>Cgc	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							78	68	72					3																	10108908		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10108908T>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2401T>C	3.37:g.10108908T>C	ENSP00000398754:p.Cys801Arg					FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_Non-coding_Transcript	p.C801R	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	25	2479	+			801					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2401T>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064861	0.76187	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.79135	-0.1928	10	0.87932	D	0	.	13.4917	0.61399	0.0:0.0:0.0:1.0	.	801;801	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	R	801	ENSP00000287647:C801R;ENSP00000373318:C801R;ENSP00000373317:C801R;ENSP00000398754:C801R	ENSP00000287647:C801R	C	+	1	0	FANCD2	10083908	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.577000	0.82486	2.078000	0.62432	0.477000	0.44152	TGC		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			C	10108908	T	C	10108908	3	2	197	1	0	0	0	0	1	0	0	0	5665	1580	55	4	2499	4	FANCD2	3	10108908	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		10108908	187913522	18	13881											
IRAK2	3656	broad.mit.edu	37	chr3	10254939	10254939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttttgagcttggctGgagacagccttttctggagt	10	13	11	7	0	1	2	0	1	1	1	1	4	1	3	1	3	3	2	1	3	2	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10254939G>A	ENST00000256458.4	+	5	667	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	193					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGCTTGGCTGGAGACAGCCT	0.493																																						uc003bve.1																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(577-579)Gga>Aga		Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.							79	77	78					3																	10254939		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10254939G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.577G>A	3.37:g.10254939G>A	ENSP00000256458:p.Gly193Arg						p.G193R	NM_001570	NP_001561	O43187	IRAK2_HUMAN			4	653	+			193					B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.577G>A	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560512	0.27827	.	.	ENSG00000134070	ENST00000256458	T	0.34072	1.38	5.34	3.53	0.40419	Protein kinase-like domain (1);	0.341218	0.25261	N	0.031958	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	D	0.53619	0.961	P	0.44732	0.459	T	0.04140	-1.0974	10	0.45353	T	0.12	-4.7967	7.5389	0.27727	0.1906:0.0:0.8094:0.0	.	193	O43187	IRAK2_HUMAN	R	193	ENSP00000256458:G193R	ENSP00000256458:G193R	G	+	1	0	IRAK2	10229939	0.672000	0.27530	0.030000	0.17652	0.227000	0.25037	3.423000	0.52756	1.377000	0.46286	0.655000	0.94253	GGA		0.493	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			A	10254939	G	A	10254939	3	1	197	1	0	0	0	0	1	0	0	0	7823	1349	47	3	595	3	IRAK2	3	10254939	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	146031	10254939	187767491	19	13882											
FGD5	152273	broad.mit.edu	37	chr3	14862951	14862951	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaatatccagattccaccCcggagacctgccagggctgg	10	6	12	13	1	0	3	0	0	0	3	2	5	2	3	6	3	1	1	6	3	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:14862951C>A	ENST00000285046.5	+	1	2483	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	FGD5_ENST00000543601.1_Silent_p.P550P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	791					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGATTCCACCCCGGAGACCTG	0.537																																						uc003bzc.3																			0		p.A791A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2371-2373)ccC>ccA		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							114	120	118					3																	14862951		2029	4190	6219	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862951C>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2373C>A	3.37:g.14862951C>A						FGD5_uc011avk.2_Silent_p.P791P	p.P791P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	2483	+			791					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2373C>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	7.080	0.569963	0.13560	.	.	ENSG00000154783	ENST00000457774	T	0.75704	-0.96	5.03	-3.35	0.04928	.	0.000000	0.64402	D	0.000019	T	0.67933	0.2946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61903	-0.6967	7	0.72032	D	0.01	-27.1221	1.0711	0.01622	0.2129:0.1282:0.3176:0.3412	.	.	.	.	T	5	ENSP00000394827:P5T	ENSP00000394827:P5T	P	+	1	0	FGD5	14837955	0.032000	0.19561	0.856000	0.33681	0.741000	0.42261	-0.646000	0.05403	-0.491000	0.06697	0.591000	0.81541	CCG		0.537	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14862951	C	A	14862951	2	1	197	1	0	0	0	0	0	0	0	1	5836	610	22	5		5	FGD5	3	14862951	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	4608012	14862951	183159479	20	13883											
XIRP1	165904	broad.mit.edu	37	chr3	39229284	39229284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgggtctcaaaaagccaCcgagctgtgccaacgtcccc	9	6	11	15	2	1	0	1	0	1	0	3	1	2	0	5	2	4	2	5	2	3	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:39229284C>T	ENST00000340369.3	-	2	1881	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	XIRP1_ENST00000396251.1_Silent_p.R551R|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	551	Interaction with CTNNB1. {ECO:0000250}.		R -> Q (in dbSNP:rs34121641).		cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAAAAAGCCACCGAGCTGTGC	0.632																																						uc003cjk.2																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1651-1653)cgG>cgA		Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.							49	49	49					3																	39229284		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229284C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1653G>A	3.37:g.39229284C>T						XIRP1_uc003cji.3_Silent_p.R551R|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.R551R	p.R551R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	1882	-			551		R -> Q (in dbSNP:rs34121641).	Interaction with CTNNB1 (By similarity).		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1653G>A	CCDS2683.1																																																																																				0.632	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39229284	C	T	39229284	2	4	197	1	0	0	0	0	0	0	0	1	17426	494	18	3		3	XIRP1	3	39229284	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	24366333	39229284	158793146	21	13884											
IMPDH2	25915	broad.mit.edu	37	chr3	49062153	49062153	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggatgccagcaatcaGgtaagggacaaatttgtgga	12	10	14	5	0	1	0	1	0	0	0	1	3	1	3	1	4	2	3	1	4	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:49062153G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Silent_p.L460L|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGCAATCAGGTAAGGGACA	0.552																																						uc003cvt.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1378-1380)Ctg>Ttg		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						132	128	129					3																	49062153		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062153G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062153G>A							p.L460L	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1470	-			460						Silent	SNP	ENST00000326925.6	37	c.1378C>T	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622382	0.14193	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.68	-0.952	0.10366	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54801	-0.8239	4	.	.	.	-12.5786	11.1573	0.48495	0.5056:0.0:0.4944:0.0	.	.	.	.	L	415	.	.	P	-	2	0	IMPDH2	49037157	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.063000	0.30567	-0.046000	0.13446	-0.150000	0.13652	CCT		0.552	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		A	49062153	G	A	49062153	1	1	197	0	1	0	0	0	0	0	0	0	7727	991	35	3		3	IMPDH2	3	49062153	IGR	SNP	G	TCGA-27-2527-01A-01D-1494-08	9832869	49062153	148960277	22	13885											
PBRM1	55193	broad.mit.edu	37	chr3	52595840	52595840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattctgtccccaccaggcGgctgagctccccgaaagagt	8	7	10	16	2	1	2	0	1	1	1	3	3	3	2	6	2	1	2	6	2	1	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:52595840G>A	ENST00000296302.7	-	25	4232	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	PBRM1_ENST00000409114.3_Missense_Mutation_p.R1426C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1426C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1386C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1411C|RNU6ATAC16P_ENST00000408591.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1359C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1411C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R1379C			Q86U86	PB1_HUMAN	polybromo 1	1411					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCCACCAGGCGGCTGAGCTCC	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	uc003des.2				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(4231-4233)Cgc>Tgc		Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.							212	219	216					3																	52595840		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52595840G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4231C>T	3.37:g.52595840G>A	ENSP00000296302:p.Arg1411Cys					PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	p.R1411C	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	24	4243	-			1411					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.4231C>T		.	.	.	.	.	.	.	.	.	.	G	16.33	3.092000	0.55968	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.89	3.86	0.44501	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.992;0.997;0.996;0.997;0.998;0.997;0.996	D	0.99133	1.0853	10	0.87932	D	0	-9.628	13.2901	0.60267	0.0:0.0:0.479:0.521	.	1386;1359;1411;1426;1426;1411;1379;1411	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	C	1379;1359;1411;1411;1411;1386;1426;1426;1410	ENSP00000349213:R1379C;ENSP00000378307:R1359C;ENSP00000296302:R1411C;ENSP00000338302:R1411C;ENSP00000386593:R1411C;ENSP00000386529:R1386C;ENSP00000386643:R1426C;ENSP00000386601:R1426C;ENSP00000387775:R1410C	ENSP00000296302:R1411C	R	-	1	0	PBRM1	52570880	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.086000	0.57664	0.719000	0.32188	0.557000	0.71058	CGC		0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52595840	G	A	52595840	3	1	197	1	0	0	0	0	1	0	0	0	11491	1116	39	2	693	2	PBRM1	3	52595840	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	3533687	52595840	145426590	23	13886											
ATXN7	6314	broad.mit.edu	37	chr3	63981678	63981678	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcctcctcctcctcttCttctcattccatggagtctt																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:63981678delC	ENST00000295900.6	+	12	2730	c.2180delC	c.(2179-2181)tctfs	p.S728fs	ATXN7_ENST00000538065.1_Frame_Shift_Del_p.S728fs|ATXN7_ENST00000487717.1_Frame_Shift_Del_p.S728fs|ATXN7_ENST00000398590.3_Frame_Shift_Del_p.S728fs|ATXN7_ENST00000484332.1_Frame_Shift_Del_p.S583fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	728	Poly-Ser.|Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		tcctcctcttcttcTCATTCC	0.512																																						uc003dlv.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2179-2181)tctfs		Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.							51	60	57					3																	63981678		2123	4259	6382	SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981678delC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2180delC	3.37:g.63981678delC	ENSP00000295900:p.Ser728fs					ATXN7_uc003dlw.4_Frame_Shift_Del_p.S727fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.S582fs	p.S727fs	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	11	2733	+		Prostate(884;0.0181)	727			Poly-Ser.|Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Del	DEL	ENST00000295900.6	37	c.2180delC	CCDS43102.1																																																																																				0.512	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		-	63981678	C	-	63981678	7	5	197	1	0	1	0	1	0	0	0	0	1215	913	32	0	2286	0	ATXN7	3	63981678	Frame_Shift_Del	DEL	C	TCGA-27-2527-01A-01D-1494-08	11385838	63981678	134040752	24	13887											
FNDC3B	64778	broad.mit.edu	37	chr3	172065012	172065012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttccagagtcctgataGttctggtgctgacatctcag	7	13	10	11	0	2	3	1	2	2	1	5	3	4	3	3	1	1	2	3	1	1	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:172065012G>C	ENST00000336824.4	+	21	2474	c.2375G>C	c.(2374-2376)aGt>aCt	p.S792T	FNDC3B_ENST00000415807.2_Missense_Mutation_p.S792T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.S792T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	792	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTCCTGATAGTTCTGGTGCT	0.398																																						uc003fhy.3																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(2374-2376)aGt>aCt		Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.							126	126	126					3																	172065012		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172065012G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2375G>C	3.37:g.172065012G>C	ENSP00000338523:p.Ser792Thr					FNDC3B_uc003fhz.4_Missense_Mutation_p.S792T	p.S792T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	20	2547	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		792			Fibronectin type-III 6.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2375G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594576	0.28445	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	6.03	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.383662	0.37348	N	0.002126	T	0.51753	0.1693	L	0.54965	1.715	0.80722	D	1	B	0.18461	0.028	B	0.30029	0.11	T	0.43147	-0.9409	10	0.17369	T	0.5	-7.0432	18.0468	0.89335	0.0:0.0:0.8713:0.1286	.	792	Q53EP0	FND3B_HUMAN	T	792	ENSP00000411242:S792T;ENSP00000338523:S792T;ENSP00000389094:S792T	ENSP00000338523:S792T	S	+	2	0	FNDC3B	173547706	1.000000	0.71417	0.152000	0.22495	0.904000	0.53231	4.337000	0.59310	2.861000	0.98227	0.655000	0.94253	AGT		0.398	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		C	172065012	G	C	172065012	3	2	197	1	0	0	0	0	1	0	0	0	5970	1029	36	5	2453	5	FNDC3B	3	172065012	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	108083334	172065012	25957418	25	13888											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178952085	A	G	178952085	3	3	197	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08	6887073	178952085	19070345	26	13889											
IL1RAP	3556	broad.mit.edu	37	chr3	190345166	190345166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagttttctgatggattctcGcaatgaggtttggtggacca	8	15	12	6	1	2	2	0	2	2	0	3	4	2	4	1	4	0	3	1	4	2	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:190345166G>A	ENST00000412504.2	+	7	1082	c.830G>A	c.(829-831)cGc>cAc	p.R277H	IL1RAP_ENST00000434491.1_Missense_Mutation_p.R136H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R277H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R277H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R277H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R277H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	277	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGATTCTCGCAATGAGGTT	0.378																																						uc010hzg.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(829-831)cGc>cAc		Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.							139	130	133					3																	190345166		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190345166G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.830G>A	3.37:g.190345166G>A	ENSP00000412053:p.Arg277His					IL1RAP_uc003fsk.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsm.2_Missense_Mutation_p.R277H|IL1RAP_uc003fso.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.R277H	p.R277H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	8	1251	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		277			Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.830G>A	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.161550|2.161550	0.38119|0.38119	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.09911	.|5.18;4.88;5.18;5.18;5.18;3.12;2.93;3.12;4.88	5.97|5.97	1.62|1.62	0.23740|0.23740	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.174957	.|0.39274	.|N	.|0.001419	T|T	0.06917|0.06917	0.0176|0.0176	L|L	0.34521|0.34521	1.04|1.04	0.34892|0.34892	D|D	0.74565|0.74565	.|B;B;B;B	.|0.11235	.|0.004;0.001;0.0;0.002	.|B;B;B;B	.|0.08055	.|0.003;0.001;0.0;0.001	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.30078	.|T	.|0.28	.|.	5.2861|5.2861	0.15702|0.15702	0.2993:0.1492:0.5514:0.0|0.2993:0.1492:0.5514:0.0	.|.	.|136;277;277;277	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	114|277;277;277;277;277;277;136;277;277	.|ENSP00000072516:R277H;ENSP00000408893:R277H;ENSP00000412053:R277H;ENSP00000401132:R277H;ENSP00000390541:R277H;ENSP00000409352:R277H;ENSP00000391899:R136H;ENSP00000387371:R277H;ENSP00000314807:R277H	.|ENSP00000072516:R277H	A|R	+|+	1|2	0|0	IL1RAP|IL1RAP	191827860|191827860	0.213000|0.213000	0.23551|0.23551	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-0.214000|-0.214000	0.09292|0.09292	0.748000|0.748000	0.32831|0.32831	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.378	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			A	190345166	G	A	190345166	3	1	197	1	0	0	0	0	1	0	0	0	7660	1087	38	1	852	1	IL1RAP	3	190345166	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	11393081	190345166	7677264	27	13890											
UGT2B11	10720	broad.mit.edu	37	chr4	70079956	70079956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaccgtatgttaagtagcGcagccagcagctcaccacag	13	6	9	13	2	1	0	1	0	0	0	1	0	1	0	3	0	5	6	3	0	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:70079956G>A	ENST00000446444.1	-	1	493	c.485C>T	c.(484-486)gCg>gTg	p.A162V	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	162					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A162V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTTAAGTAGCGCAGCCAGCAG	0.423																																						uc003heh.3																			1	Substitution - Missense(1)	p.A162V(2)|p.A162A(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(484-486)gCg>gTg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.							133	129	130					4																	70079956		2203	4298	6501	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079956G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.485C>T	4.37:g.70079956G>A	ENSP00000387683:p.Ala162Val					AK124272_uc003hei.1_Intron	p.A162V	NM_001073	NP_001064	O75310	UDB11_HUMAN			0	494	-			162					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.485C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	6.161	0.397893	0.11696	.	.	ENSG00000213759	ENST00000446444	T	0.62941	-0.01	1.96	1.96	0.26148	.	0.211940	0.30159	U	0.010280	T	0.52500	0.1738	L	0.56280	1.765	0.09310	N	1	B	0.21381	0.055	B	0.21708	0.036	T	0.50311	-0.8843	10	0.87932	D	0	.	6.193	0.20534	0.0:0.0:0.2599:0.7401	.	162	O75310	UDB11_HUMAN	V	162	ENSP00000387683:A162V	ENSP00000387683:A162V	A	-	2	0	UGT2B11	70114545	0.097000	0.21791	0.348000	0.25681	0.020000	0.10135	1.912000	0.39946	0.041000	0.15688	-1.448000	0.01049	GCG		0.423	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		A	70079956	G	A	70079956	3	1	197	1	0	0	0	0	1	0	0	0	16954	1087	38	1	1128	1	UGT2B11	4	70079956	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		70079956	121074320	28	13891											
ADAM29	11086	broad.mit.edu	37	chr4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgttgaaattgtagtcGtcattgataattatctgtac	11	17	9	4	1	2	2	1	2	1	0	3	3	2	3	0	1	1	3	0	1	5	8			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.V205I(4)|p.V204V(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(613-615)Gtc>Atc		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							86	87	87					4																	175897289		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897289G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile					ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.613G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175897289	G	A	175897289	3	1	197	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	105817333	175897289	15256987	29	13892											
TMEM174	134288	broad.mit.edu	37	chr5	72469396	72469396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgaggaaagggtccCggactcggaacagacaccag	15	3	14	9	2	0	3	0	1	0	2	2	6	1	6	2	4	1	0	2	4	3	0	rs34059261		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:72469396C>T	ENST00000296776.5	+	1	375	c.326C>T	c.(325-327)cCg>cTg	p.P109L	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAAGGGTCCCGGACTCGGAA	0.527																																						uc010izc.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(325-327)cCg>cTg		Homo sapiens transmembrane protein 174 (TMEM174), mRNA.		C	LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	96	98	97		326	-7.4	0.1	5	dbSNP_126	97	0,8600		0,0,4300	no	missense	TMEM174	NM_153217.2	98	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	109/244	72469396	3,13003	2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469396C>T	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.326C>T	5.37:g.72469396C>T	ENSP00000296776:p.Pro109Leu						p.P109L	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	0	374	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	109					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.326C>T	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.321815	0.01320	6.81E-4	0.0	ENSG00000164325	ENST00000296776	.	.	.	6.02	-7.38	0.01407	.	0.815774	0.11111	N	0.598556	T	0.16214	0.0390	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	9	0.42905	T	0.14	-2.174	12.1893	0.54261	0.0:0.4531:0.0852:0.4617	rs34059261	109	Q8WUU8	TM174_HUMAN	L	109	.	ENSP00000296776:P109L	P	+	2	0	TMEM174	72505152	0.000000	0.05858	0.128000	0.21923	0.190000	0.23558	-1.035000	0.03564	-1.092000	0.03062	-1.119000	0.02030	CCG		0.527	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		T	72469396	C	T	72469396	3	4	197	1	0	0	0	0	1	0	0	0	16087	652	23	2	328	2	TMEM174	5	72469396	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		72469396	108445864	30	13893											
EGR1	1958	broad.mit.edu	37	chr5	137803019	137803019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctctgtctactattaaggCctttgccactcagtcgggct	6	13	8	14	1	3	0	1	0	2	0	4	0	3	0	3	2	2	1	3	2	3	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:137803019C>A	ENST00000239938.4	+	2	1153	c.881C>A	c.(880-882)gCc>gAc	p.A294D		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	294					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627																																						uc003ldb.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(880-882)gCc>gAc		Homo sapiens early growth response 1 (EGR1), mRNA.							93	104	100					5																	137803019		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803019C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.881C>A	5.37:g.137803019C>A	ENSP00000239938:p.Ala294Asp						p.A294D	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	1151	+			294						Missense_Mutation	SNP	ENST00000239938.4	37	c.881C>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220729	0.58560	.	.	ENSG00000120738	ENST00000239938	T	0.09911	2.93	5.16	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.39921	-0.9590	10	0.87932	D	0	-24.9712	15.6049	0.76658	0.0:0.8618:0.1382:0.0	.	294	P18146	EGR1_HUMAN	D	294	ENSP00000239938:A294D	ENSP00000239938:A294D	A	+	2	0	EGR1	137830918	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	1.143000	0.42306	0.557000	0.71058	GCC		0.627	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		A	137803019	C	A	137803019	3	1	197	1	0	0	0	0	1	0	0	0	4971	739	26	5	887	5	EGR1	5	137803019	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	65333623	137803019	43112241	31	13894											
DSP	1832	broad.mit.edu	37	chr6	7583937	7583937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttgccaaaagatgtcGccttggcccgggggctgatt	6	13	12	10	2	1	2	0	1	1	1	2	2	1	2	3	3	1	1	3	3	2	4	rs144539278		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:7583937G>A	ENST00000379802.3	+	24	6783	c.6442G>A	c.(6442-6444)Gcc>Acc	p.A2148T	DSP_ENST00000418664.2_Missense_Mutation_p.A1549T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2148	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGATGTCGCCTTGGCCCG	0.478																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6442-6444)Gcc>Acc		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	50	53	52		4645,6442	5.4	0.5	6	dbSNP_134	52	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	1549/2273,2148/2872	7583937	2,13004	2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583937G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6442G>A	6.37:g.7583937G>A	ENSP00000369129:p.Ala2148Thr					DSP_uc003mxq.1_Missense_Mutation_p.A1549T|DSP_uc021yle.1_Missense_Mutation_p.A1705T	p.A2148T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	6721	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2148			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6442G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851876	0.71719	4.54E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.97598	-4.45;-4.45	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000015	D	0.98710	0.9567	M	0.88704	2.975	0.42578	D	0.993204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99418	1.0932	10	0.66056	D	0.02	.	19.4739	0.94976	0.0:0.0:1.0:0.0	.	1596;2148	Q4LE79;P15924	.;DESP_HUMAN	T	2148;1549	ENSP00000369129:A2148T;ENSP00000396591:A1549T	ENSP00000369129:A2148T	A	+	1	0	DSP	7528936	1.000000	0.71417	0.472000	0.27241	0.554000	0.35429	9.813000	0.99286	2.697000	0.92050	0.655000	0.94253	GCC		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7583937	G	A	7583937	3	1	197	1	0	0	0	0	1	0	0	0	4781	1087	38	1	6536	1	DSP	6	7583937	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		7583937	163531130	32	13895											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860752	27860752	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccaggatctcggcagttAggtactccagcaccgccgcc	7	7	11	16	3	1	0	0	0	1	0	4	1	3	1	5	3	2	5	5	3	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:27860752A>T	ENST00000359611.2	-	1	211	c.176T>A	c.(175-177)cTa>cAa	p.L59Q	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGGCAGTTAGGTACTCCAG	0.662																																						uc003nkb.1																			0		p.Y58H(1)|p.Y58N(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(175-177)cTa>cAa		Homo sapiens histone cluster 1, H2am (HIST1H2AM), mRNA.							64	70	68					6																	27860752		2202	4300	6502	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860752A>T	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.176T>A	6.37:g.27860752A>T	ENSP00000352627:p.Leu59Gln					HIST1H3J_uc003nka.3_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.L59Q	NM_003514	NP_066408	P0C0S8	H2A1_HUMAN			0	212	-			59					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.176T>A	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658526	0.67586	.	.	ENSG00000233224	ENST00000359611	T	0.72167	-0.63	4.06	4.06	0.47325	.	0.000000	0.25244	U	0.032063	D	0.88955	0.6578	H	0.99090	4.425	0.38697	D	0.952897	.	.	.	.	.	.	D	0.92712	0.6184	8	0.87932	D	0	.	12.8166	0.57669	1.0:0.0:0.0:0.0	.	.	.	.	Q	59	ENSP00000352627:L59Q	ENSP00000352627:L59Q	L	-	2	0	HIST1H2AM	27968731	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.704000	0.91351	2.058000	0.61347	0.533000	0.62120	CTA		0.662	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		T	27860752	A	T	27860752	3	4	197	1	0	0	0	0	1	0	0	0	7139	420	15	5	220	5	HIST1H2AM	6	27860752	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08	20276815	27860752	143254315	33	13896											
NEU1	4758	broad.mit.edu	37	chr6	31830506	31830506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagcccagaatccgcggCccccagcgtctgtccgggag	8	4	13	16	4	1	2	0	0	1	2	3	3	3	3	5	2	2	0	5	2	2	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:31830506C>T	ENST00000375631.4	-	1	177	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	16					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GAATCCGCGGCCCCCAGCGTC	0.662																																						uc003nxq.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(46-48)ggG>ggA		Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	Oseltamivir(DB00198)|Zanamivir(DB00558)						58	46	50					6																	31830506		1511	2709	4220	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31830506C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.48G>A	6.37:g.31830506C>T							p.G16G	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			0	204	-			16						Silent	SNP	ENST00000375631.4	37	c.48G>A	CCDS4723.1																																																																																				0.662	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			T	31830506	C	T	31830506	2	4	197	1	0	0	0	0	0	0	0	1	10341	726	26	3		3	NEU1	6	31830506	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	3969754	31830506	139284561	34	13897											
PKHD1	5314	broad.mit.edu	37	chr6	51751972	51751972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagtgaaggaaagaagCggagcttgtgatgtttggtt	10	13	15	3	1	1	4	0	3	1	1	1	6	1	6	0	3	2	3	0	3	3	4	rs200774031		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:51751972C>T	ENST00000371117.3	-	44	7343	c.7068G>A	c.(7066-7068)ccG>ccA	p.P2356P	PKHD1_ENST00000340994.4_Silent_p.P2356P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2356					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P2356P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAAGAAGCGGAGCTTGTG	0.388													C|||	1	0.000199681	0	0	5008	,	,		18623	0.001		0	False		,,,				2504	0					uc003pah.1																			1	Substitution - coding silent(1)	p.P2356P(2)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7066-7068)ccG>ccA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	155	137	143		7068,7068	-7.7	1	6		143	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	2356/4075,2356/3397	51751972	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51751972C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7068G>A	6.37:g.51751972C>T						PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.3_Silent_p.P2356P	p.P2356P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			43	7344	-	Lung NSC(77;0.0605)		2356					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.7068G>A	CCDS4935.1																																																																																				0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51751972	C	T	51751972	2	4	197	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51751972	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	19921466	51751972	119363095	35	13898											
C6orf165	154313	broad.mit.edu	37	chr6	88170826	88170826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacacatactgccaccaacGattgtgagatcatatgagtg	14	9	8	10	1	1	2	1	2	0	1	1	4	1	2	2	0	3	0	2	0	3	3	rs376338058		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:88170826G>A	ENST00000507897.1	+	12	1664	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	C6ORF165_ENST00000369562.4_Silent_p.T527T|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	527										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCCACCAACGATTGTGAGAT	0.328																																						uc003plv.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1579-1581)acG>acA		Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	84	73	77		1581	-10.8	0.2	6		77	0,8594		0,0,4297	no	coding-synonymous	C6orf165	NM_001031743.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		527/623	88170826	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	154313							g.chr6:88170826G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1581G>A	6.37:g.88170826G>A						SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.T339T|C6orf165_uc010kbv.2_Non-coding_Transcript	p.T527T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1704	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	527					A8K969|E1P507|Q8N9U4	Silent	SNP	ENST00000507897.1	37	c.1581G>A	CCDS34498.1																																																																																				0.328	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		A	88170826	G	A	88170826	2	1	197	1	0	0	0	0	0	0	0	1	2341	1045	37	2		2	C6orf165	6	88170826	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	36418854	88170826	82944241	36	13899											
SDK1	221935	broad.mit.edu	37	chr7	4215452	4215452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctccacatcgacgaTgtgtgaactaacacgtaagt	13	8	9	11	3	0	1	0	1	0	0	2	3	1	1	1	0	4	3	1	0	3	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:4215452T>C	ENST00000404826.2	+	34	5121	c.4982T>C	c.(4981-4983)aTg>aCg	p.M1661T	SDK1_ENST00000389531.3_Intron	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1661	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCGACGATGTGTGAACTA	0.582																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4981-4983)aTg>aCg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							198	139	159					7																	4215452		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4215452T>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4982T>C	7.37:g.4215452T>C	ENSP00000385899:p.Met1661Thr					SDK1_uc010kso.3_Intron|SDK1_uc003smy.3_Missense_Mutation_p.M148T	p.M1661T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	33	5121	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1661			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4982T>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	T	0.108	-1.142319	0.01728	.	.	ENSG00000146555	ENST00000404826	T	0.53206	0.63	4.52	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.234215	0.36628	N	0.002482	T	0.13713	0.0332	N	0.00392	-1.555	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09079	-1.0691	10	0.09084	T	0.74	.	10.0318	0.42105	0.0:0.9031:0.0:0.0969	.	148;1661	F2Z3E9;Q7Z5N4	.;SDK1_HUMAN	T	1661	ENSP00000385899:M1661T	ENSP00000385899:M1661T	M	+	2	0	SDK1	4181978	0.968000	0.33430	0.034000	0.17996	0.002000	0.02628	1.414000	0.34736	0.871000	0.35750	-0.242000	0.12053	ATG		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		C	4215452	T	C	4215452	3	2	197	1	0	0	0	0	1	0	0	0	13968	1464	51	4	5116	4	SDK1	7	4215452	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		4215452	154923211	37	13900											
GPR141	353345	broad.mit.edu	37	chr7	37780665	37780665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccaggagttctgggctCagctgaaaaacctatttttt	10	12	8	11	0	2	1	1	1	1	0	2	2	2	2	3	2	2	3	3	2	3	5	rs373247764		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:37780665C>G	ENST00000447769.1	+	4	959	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	GPR141_ENST00000334425.1_Missense_Mutation_p.Q224E|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q224*(1)|p.Q224K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438																																						uc003tfm.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.Q224*(2)|p.Q224K(2)	lung(2)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(670-672)Cag>Gag		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.							167	166	166					7																	37780665		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780665C>G	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.670C>G	7.37:g.37780665C>G	ENSP00000390410:p.Gln224Glu					BC043356_uc003tfl.3_Intron	p.Q224E	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			0	670	+			224					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.670C>G	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376168	0.82682	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.37752	1.18;1.18	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.063724	0.64402	D	0.000004	T	0.59865	0.2225	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.53099	-0.8486	10	0.27785	T	0.31	-19.0544	18.0556	0.89363	0.0:1.0:0.0:0.0	.	224	Q7Z602	GP141_HUMAN	E	224	ENSP00000390410:Q224E;ENSP00000334540:Q224E	ENSP00000334540:Q224E	Q	+	1	0	GPR141	37747190	1.000000	0.71417	0.889000	0.34880	0.995000	0.86356	7.289000	0.78701	2.882000	0.98803	0.655000	0.94253	CAG		0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		G	37780665	C	G	37780665	3	3	197	1	0	0	0	0	1	0	0	0	6649	827	29	5	672	5	GPR141	7	37780665	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	33565213	37780665	121357998	38	13901											
GLI3	2737	broad.mit.edu	37	chr7	42004153	42004153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcgtctatgatggcatcGaagtcaatctgtaccccttc	9	12	7	13	2	3	1	1	1	2	0	6	2	3	1	3	1	1	2	3	1	4	3	rs377186629		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:42004153G>A	ENST00000395925.3	-	15	4602	c.4518C>T	c.(4516-4518)ttC>ttT	p.F1506F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1506	Asp/Glu-rich (acidic).				anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGATGGCATCGAAGTCAATCT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.2																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(4516-4518)ttC>ttT		Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.		G		0,4406		0,0,2203	126	106	113		4518	-0.6	1	7		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLI3	NM_000168.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1506/1581	42004153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004153G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4518C>T	7.37:g.42004153G>A						GLI3_uc011kbg.2_Silent_p.F1447F	p.F1506F	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	4609	-			1506			Asp/Glu-rich (acidic).		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.4518C>T	CCDS5465.1																																																																																				0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42004153	G	A	42004153	2	1	197	1	0	0	0	0	0	0	0	1	6439	1049	37	2		2	GLI3	7	42004153	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	4223488	42004153	117134510	39	13902											
SEMA3E	9723	broad.mit.edu	37	chr7	83095907	83095907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaacccgaacataatttGcacattcaccctaaagcagg	16	7	6	12	1	1	0	1	0	0	0	1	1	1	0	2	1	4	3	2	1	6	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:83095907G>T	ENST00000307792.3	-	4	814	c.347C>A	c.(346-348)gCa>gAa	p.A116E	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A56E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	116	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACATAATTTGCACATTCACC	0.388																																						uc003uhy.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(346-348)gCa>gAa		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							123	106	112					7																	83095907		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83095907G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.347C>A	7.37:g.83095907G>T	ENSP00000303212:p.Ala116Glu					SEMA3E_uc022agy.1_Missense_Mutation_p.A56E	p.A116E	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			3	968	-		Medulloblastoma(109;0.109)	116			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.347C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819256	0.71028	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.10477	2.87;2.87;2.87	5.48	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.058282	0.64402	D	0.000002	T	0.33147	0.0853	M	0.85630	2.765	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.06463	-1.0825	10	0.30854	T	0.27	.	11.1332	0.48360	0.1521:0.0:0.8479:0.0	.	116	O15041	SEM3E_HUMAN	E	116;56;116;56	ENSP00000303212:A116E;ENSP00000405052:A56E;ENSP00000412867:A56E	ENSP00000303212:A116E	A	-	2	0	SEMA3E	82933843	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.691000	0.74573	0.702000	0.31825	0.650000	0.86243	GCA		0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		T	83095907	G	T	83095907	3	4	197	1	0	0	0	0	1	0	0	0	14028	1319	46	5	2036	5	SEMA3E	7	83095907	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	41091754	83095907	76042756	40	13903											
SAMD9L	219285	broad.mit.edu	37	chr7	92763418	92763418	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagtcaccgattttagttTaaggatagtgctgtttacca	10	14	9	8	2	1	0	1	0	0	0	1	3	1	1	3	1	2	3	3	1	4	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:92763418T>G	ENST00000318238.4	-	5	3083	c.1867A>C	c.(1867-1869)Aaa>Caa	p.K623Q	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K623Q|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K623Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	623					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTTAGTTTAAGGATAGTG	0.383																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1867-1869)Aaa>Caa		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							99	102	101					7																	92763418		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92763418T>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1867A>C	7.37:g.92763418T>G	ENSP00000326247:p.Lys623Gln					SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.K623Q	p.K623Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	3083	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		623					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1867A>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681559	0.47991	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24723	1.84;1.84;1.84	4.86	4.86	0.63082	.	0.214138	0.37955	N	0.001867	T	0.37679	0.1012	M	0.63843	1.955	0.27748	N	0.944242	P	0.50528	0.936	P	0.50405	0.64	T	0.33137	-0.9880	10	0.72032	D	0.01	-24.1305	14.2798	0.66202	0.0:0.0:0.0:1.0	.	623	Q8IVG5	SAM9L_HUMAN	Q	623	ENSP00000326247:K623Q;ENSP00000405760:K623Q;ENSP00000408796:K623Q	ENSP00000326247:K623Q	K	-	1	0	SAMD9L	92601354	0.961000	0.32948	1.000000	0.80357	0.591000	0.36615	2.359000	0.44142	2.042000	0.60477	0.383000	0.25322	AAA		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		G	92763418	T	G	92763418	3	3	197	1	0	0	0	0	1	0	0	0	13827	1763	61	5	2891	5	SAMD9L	7	92763418	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	9667511	92763418	66375245	41	13904											
TRRAP	8295	broad.mit.edu	37	chr7	98581850	98581850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggactggtcaatgtaGctctggatatattaagtcgg	13	11	11	6	1	2	0	1	0	1	0	3	2	2	2	0	4	2	2	0	4	7	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:98581850G>A	ENST00000359863.4	+	60	9378	c.9169G>A	c.(9169-9171)Gct>Act	p.A3057T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3028T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3028T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3057	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCAATGTAGCTCTGGATAT	0.448																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9169-9171)Gct>Act		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							199	182	188					7																	98581850		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581850G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9169G>A	7.37:g.98581850G>A	ENSP00000352925:p.Ala3057Thr					TRRAP_uc011kis.2_Missense_Mutation_p.A3028T|TRRAP_uc003upr.3_Missense_Mutation_p.A2745T	p.A3057T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		59	9378	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3057			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9169G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797266	0.96952	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.87334	-2.24;-1.64	5.26	5.26	0.73747	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	L	0.46157	1.445	0.80722	D	1	D;D;D	0.58970	0.96;0.969;0.984	P;P;P	0.58013	0.469;0.65;0.831	D	0.91287	0.5056	10	0.87932	D	0	.	18.8704	0.92311	0.0:0.0:1.0:0.0	.	3028;2767;3057	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	3057;3028;3027	ENSP00000352925:A3057T;ENSP00000347733:A3028T	ENSP00000347733:A3028T	A	+	1	0	TRRAP	98419786	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.750000	0.98875	2.481000	0.83766	0.655000	0.94253	GCT		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98581850	G	A	98581850	3	1	197	1	0	0	0	0	1	0	0	0	16598	971	34	3	9312	3	TRRAP	7	98581850	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	5818432	98581850	60556813	42	13905											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998699	99998699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtgctgcagctcccCgctctgccccagctctctcc	2	11	9	19	1	2	0	0	0	2	0	5	0	4	0	5	0	6	7	5	0	0	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:99998699C>T	ENST00000398027.2	-	18	2132	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.G458R|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.G458R	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	629							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCAGCTCCCCGCTCTGCCCC	0.602																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1885-1887)Ggg>Agg		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							49	52	51					7																	99998699		2067	4211	6278	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998699C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1885G>A	7.37:g.99998699C>T	ENSP00000381109:p.Gly629Arg					ZCWPW1_uc011kjq.2_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	p.G629R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			17	2133	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		629					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1885G>A	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719759	0.30503	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.48522	0.87;0.81;0.81	5.04	4.16	0.48862	.	.	.	.	.	T	0.41259	0.1151	N	0.24115	0.695	0.09310	N	1	D;D;B	0.63880	0.993;0.993;0.18	P;P;B	0.50934	0.654;0.654;0.013	T	0.13335	-1.0513	8	.	.	.	-1.4401	9.5369	0.39229	0.0:0.905:0.0:0.095	.	590;629;458	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	R	629;458;458	ENSP00000381109:G629R;ENSP00000419187:G458R;ENSP00000314880:G458R	.	G	-	1	0	ZCWPW1	99836635	0.001000	0.12720	0.005000	0.12908	0.000000	0.00434	1.149000	0.31626	1.508000	0.48769	-0.136000	0.14681	GGG		0.602	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		T	99998699	C	T	99998699	3	4	197	1	0	0	0	0	1	0	0	0	17594	652	23	2	65	2	ZCWPW1	7	99998699	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	1416849	99998699	59139964	43	13906											
NEFM	4741	broad.mit.edu	37	chr8	24772136	24772136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaatccgctcccagcTcgaaagccactcagaccaga	14	4	9	14	2	1	2	1	0	0	2	4	5	3	3	4	1	2	2	4	1	3	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:24772136T>C	ENST00000221166.5	+	1	1612	c.830T>C	c.(829-831)cTc>cCc	p.L277P	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.L277P|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.L277P|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	277	Coil 2A.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCTCCCAGCTCGAAAGCCAC	0.587																																						uc003xed.4																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(829-831)cTc>cCc		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.							122	102	109					8																	24772136		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772136T>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.830T>C	8.37:g.24772136T>C	ENSP00000221166:p.Leu277Pro					NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	p.L277P	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	863	+		Prostate(55;0.157)	277			Coil 2A.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.830T>C	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860355	0.71834	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89343	-2.5;-2.5;-2.5	4.69	4.69	0.59074	Filament (1);	0.000000	0.39083	N	0.001476	D	0.93996	0.8077	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	277;277	E7EMV2;P07197	.;NFM_HUMAN	P	277	ENSP00000221166:L277P;ENSP00000427872:L277P;ENSP00000410137:L277P	ENSP00000221166:L277P	L	+	2	0	NEFM	24828041	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.324000	0.52022	1.873000	0.54277	0.383000	0.25322	CTC		0.587	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		C	24772136	T	C	24772136	3	2	197	1	0	0	0	0	1	0	0	0	10316	1551	54	4	832	4	NEFM	8	24772136	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		24772136	121591886	44	13907											
ANK1	286	broad.mit.edu	37	chr8	41753935	41753935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattcctccttctccttctGctcctggagggcctgcgcct	2	13	10	16	1	2	0	0	0	2	0	6	2	5	2	6	3	2	1	6	3	0	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:41753935G>C	ENST00000265709.8	-	1	345	c.64C>G	c.(64-66)Cag>Gag	p.Q22E		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCCTTCTGCTCCTGGAGG	0.637																																						uc003xom.3																			0		p.S22L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(64-66)Cag>Gag		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.							73	64	67					8																	41753935		1568	3582	5150	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41753935G>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000265709.8:c.64C>G	8.37:g.41753935G>C	ENSP00000265709:p.Gln22Glu						p.Q22E	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		0	346	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	0			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000265709.8	37	c.64C>G	CCDS47849.1	.	.	.	.	.	.	.	.	.	.	g	5.814	0.334515	0.11013	.	.	ENSG00000029534	ENST00000265709	T	0.63580	-0.05	3.57	3.57	0.40892	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	B	0.27656	0.184	B	0.24155	0.051	T	0.35649	-0.9780	8	0.02654	T	1	.	15.1669	0.72837	0.0:0.0:1.0:0.0	.	22	P16157-21	.	E	22	ENSP00000265709:Q22E	ENSP00000265709:Q22E	Q	-	1	0	ANK1	41873092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.872000	0.75536	1.511000	0.48818	0.486000	0.48141	CAG		0.637	ANK1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377171.1	NM_020475		C	41753935	G	C	41753935	3	2	197	1	0	0	0	0	1	0	0	0	620	1328	46	5	6233	5	ANK1	8	41753935	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	16981799	41753935	104610087	45	13908											
RALYL	138046	broad.mit.edu	37	chr8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgcctccacctccccGtgcagtaattccgctgaagc	6	9	10	16	3	0	1	0	1	0	0	3	1	3	1	6	0	3	3	6	0	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:85774569G>A	ENST00000521268.1	+	6	1557	c.452G>A	c.(451-453)cGt>cAt	p.R151H	RALYL_ENST00000522455.1_Missense_Mutation_p.R151H|RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498																																						uc003yct.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(490-492)cGt>cAt		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.							56	56	56					8																	85774569		1903	4127	6030	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774569G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.452G>A	8.37:g.85774569G>A	ENSP00000430367:p.Arg151His					RALYL_uc003ycq.4_Missense_Mutation_p.R151H|RALYL_uc003ycr.4_Missense_Mutation_p.R151H|RALYL_uc003ycs.4_Missense_Mutation_p.R151H|RALYL_uc010lzy.3_Missense_Mutation_p.R140H|RALYL_uc003ycu.4_Missense_Mutation_p.R78H	p.R164H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN			5	625	+			151					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.491G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000863	0.74818	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23348	2.63;2.63;2.63;2.56;2.62;2.15;1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.75264	2.295	0.43250	D	0.99517	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.994;0.998;0.993;0.994	T	0.53718	-0.8399	10	0.51188	T	0.08	-3.6618	19.1979	0.93696	0.0:0.0:1.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	151;151;151;140;164;78;62	ENSP00000430394:R151H;ENSP00000428667:R151H;ENSP00000430367:R151H;ENSP00000430065:R140H;ENSP00000430128:R164H;ENSP00000428807:R78H;ENSP00000428310:R62H	ENSP00000430128:R164H	R	+	2	0	RALYL	85937124	1.000000	0.71417	0.646000	0.29493	0.433000	0.31745	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT		0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			A	85774569	G	A	85774569	3	1	197	1	0	0	0	0	1	0	0	0	13020	1145	40	1	513	1	RALYL	8	85774569	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	44020634	85774569	60589453	46	13909											
KCNS2	3788	broad.mit.edu	37	chr8	99440635	99440635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagagtgaccaggagaGcaccacgtcttccttcgatg	10	7	12	12	3	1	3	0	1	1	2	3	6	2	3	3	1	2	2	3	1	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:99440635G>A	ENST00000287042.4	+	2	778	c.428G>A	c.(427-429)aGc>aAc	p.S143N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S143N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	143					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCAGGAGAGCACCACGTCT	0.582																																					Pancreas(138;844 2489 9202 24627)	uc003yin.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(427-429)aGc>aAc		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.							99	108	105					8																	99440635		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440635G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.428G>A	8.37:g.99440635G>A	ENSP00000287042:p.Ser143Asn					KCNS2_uc022azb.1_Missense_Mutation_p.S143N	p.S143N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		1	778	+	Breast(36;2.4e-06)		143					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.428G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980640	0.74474	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96554	-4.05;-4.05	5.31	5.31	0.75309	.	0.415259	0.24876	N	0.034886	D	0.97374	0.9141	L	0.50333	1.59	0.58432	D	0.999992	D	0.63880	0.993	D	0.70227	0.968	D	0.97983	1.0350	10	0.62326	D	0.03	.	18.9773	0.92742	0.0:0.0:1.0:0.0	.	143	Q9ULS6	KCNS2_HUMAN	N	143	ENSP00000287042:S143N;ENSP00000430712:S143N	ENSP00000287042:S143N	S	+	2	0	KCNS2	99509811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.470000	0.83445	0.563000	0.77884	AGC		0.582	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		A	99440635	G	A	99440635	3	1	197	1	0	0	0	0	1	0	0	0	8089	971	34	3	430	3	KCNS2	8	99440635	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	13666066	99440635	46923387	47	13910											
SNX30	401548	broad.mit.edu	37	chr9	115598647	115598647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgcactcaaactgggaAccattgatcgaatagcccag	13	9	8	11	1	1	1	1	1	0	0	2	3	1	2	2	1	4	1	2	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:115598647A>T	ENST00000374232.3	+	5	936	c.772A>T	c.(772-774)Acc>Tcc	p.T258S		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	258					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAACTGGGAACCATTGATCG	0.498																																						uc004bgj.4																			0				large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(772-774)Acc>Tcc		Homo sapiens sorting nexin family member 30 (SNX30), mRNA.							113	110	111					9																	115598647		1944	4141	6085	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598647A>T	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.772A>T	9.37:g.115598647A>T	ENSP00000363349:p.Thr258Ser					SNX30_uc004bgi.4_5'Flank	p.T258S	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			4	920	+			258						Missense_Mutation	SNP	ENST00000374232.3	37	c.772A>T	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947926	0.53186	.	.	ENSG00000148158	ENST00000374232	T	0.21191	2.02	5.8	5.8	0.92144	.	0.051928	0.85682	D	0.000000	T	0.14830	0.0358	L	0.34521	1.04	0.58432	D	0.999999	P	0.43431	0.807	B	0.34931	0.192	T	0.08534	-1.0717	10	0.12766	T	0.61	.	16.1405	0.81519	1.0:0.0:0.0:0.0	.	258	Q5VWJ9	SNX30_HUMAN	S	258	ENSP00000363349:T258S	ENSP00000363349:T258S	T	+	1	0	SNX30	114638468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.315000	0.96313	2.214000	0.71695	0.533000	0.62120	ACC		0.498	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			T	115598647	A	T	115598647	3	4	197	1	0	0	0	0	1	0	0	0	14900	43	2	5	790	5	SNX30	9	115598647	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		115598647	25614784	48	13911											
PDCD11	22984	broad.mit.edu	37	chr10	105176336	105176336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actacctgtcattacctgctAtgccgatgccaagcctggtc	8	11	8	14	1	1	0	1	0	0	0	2	1	1	0	5	1	6	1	5	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:105176336A>G	ENST00000369797.3	+	13	1701	c.1607A>G	c.(1606-1608)tAt>tGt	p.Y536C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	536					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATTACCTGCTATGCCGATGCC	0.493											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kwy.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1606-1608)tAt>tGt		Homo sapiens programmed cell death 11 (PDCD11), mRNA.							169	147	155					10																	105176336		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105176336A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1607A>G	10.37:g.105176336A>G	ENSP00000358812:p.Tyr536Cys		OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387		p.Y536C	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	12	1694	+		Colorectal(252;0.0747)|Breast(234;0.128)	536					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1607A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501781	0.26949	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.18016	2.24	5.36	4.22	0.49857	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.179830	0.50627	D	0.000117	T	0.43897	0.1268	M	0.89214	3.015	0.46701	D	0.999162	D	0.71674	0.998	D	0.67900	0.954	T	0.46289	-0.9202	10	0.62326	D	0.03	-10.4964	10.0247	0.42063	0.7307:0.0:0.0:0.2693	.	536	Q14690	RRP5_HUMAN	C	536	ENSP00000358812:Y536C	ENSP00000358812:Y536C	Y	+	2	0	PDCD11	105166326	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.706000	0.61845	0.964000	0.38108	-0.403000	0.06358	TAT		0.493	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			G	105176336	A	G	105176336	3	3	197	1	0	0	0	0	1	0	0	0	11617	449	16	4	1653	4	PDCD11	10	105176336	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		105176336	30358411	49	13912											
KIAA1598	57698	broad.mit.edu	37	chr10	118671332	118671332	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcatccactgcacttTcgcagcctttcgaagattct	8	15	6	12	2	2	1	1	0	1	1	5	2	3	1	2	0	2	3	2	0	2	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:118671332T>G	ENST00000355371.4	-	14	1825	c.1328A>C	c.(1327-1329)gAa>gCa	p.E443A	KIAA1598_ENST00000392903.2_Missense_Mutation_p.E443A|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.E443A|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E383A	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	443					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CACTGCACTTTCGCAGCCTTT	0.299																																						uc021pzk.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(1327-1329)gAa>gCa		Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.							77	78	78					10																	118671332		2202	4299	6501	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118671332T>G	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1328A>C	10.37:g.118671332T>G	ENSP00000347532:p.Glu443Ala					KIAA1598_uc009xyw.3_Missense_Mutation_p.E443A|KIAA1598_uc001lcz.4_Missense_Mutation_p.E443A|KIAA1598_uc010qso.2_Missense_Mutation_p.E383A|KIAA1598_uc010qsp.1_Missense_Mutation_p.E443A|KIAA1598_uc010qsq.1_Missense_Mutation_p.E383A|KIAA1598_uc001lcy.4_Missense_Mutation_p.E413A	p.E443A	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	13	1826	-			443					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.1328A>C	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463388	0.63513	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.98	5.98	0.97165	.	0.208646	0.49916	D	0.000123	T	0.64538	0.2607	L	0.50333	1.59	0.42474	D	0.992836	P;B;P	0.51791	0.868;0.447;0.948	B;B;P	0.52823	0.443;0.158;0.71	T	0.67803	-0.5576	9	0.66056	D	0.02	-15.1083	15.0492	0.71854	0.0:0.0:0.0:1.0	.	443;443;413	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	A	443;443;443;383	.	ENSP00000260777:E443A	E	-	2	0	KIAA1598	118661322	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.928000	0.63447	2.288000	0.76882	0.528000	0.53228	GAA		0.299	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		G	118671332	T	G	118671332	3	3	197	1	0	0	0	0	1	0	0	0	8246	1783	62	5	583	5	KIAA1598	10	118671332	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	13494996	118671332	16863415	50	13913											
CPXM2	119587	broad.mit.edu	37	chr10	125506512	125506512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccagggttcaggaggCgccagtaatccccatcgttg	8	9	11	13	2	2	0	1	0	1	0	5	1	3	1	4	3	0	3	4	3	1	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:125506512C>T	ENST00000241305.3	-	14	2193	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	680					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTTCAGGAGGCGCCAGTAATC	0.547																																						uc001lhk.1																			0		p.R680S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(2038-2040)cGc>cAc		Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.							163	170	168					10																	125506512		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506512C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2039G>A	10.37:g.125506512C>T	ENSP00000241305:p.Arg680His					CPXM2_uc001lhj.3_Intron	p.R680H	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	13	2364	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	680					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2039G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438426	0.83885	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.42513	0.97	4.74	3.85	0.44370	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79344	-0.1842	10	0.87932	D	0	-24.9878	12.9746	0.58531	0.0:0.9218:0.0:0.0782	.	680	Q8N436	CPXM2_HUMAN	H	680;513;655	ENSP00000241305:R680H	ENSP00000241305:R680H	R	-	2	0	CPXM2	125496502	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.645000	0.83430	1.214000	0.43395	-0.136000	0.14681	CGC		0.547	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		T	125506512	C	T	125506512	3	4	197	1	0	0	0	0	1	0	0	0	3838	768	27	1	235	1	CPXM2	10	125506512	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	6835180	125506512	10028235	51	13914											
HPS5	11234	broad.mit.edu	37	chr11	18309168	18309168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaagttgtatgatatcCgatggcaaaatggatggaaa	16	10	11	4	1	0	2	0	2	0	0	1	5	1	4	1	3	0	3	1	3	6	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:18309168C>T	ENST00000349215.3	-	18	2908	c.2631G>A	c.(2629-2631)tcG>tcA	p.S877S	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000438420.2_Silent_p.S763S|HPS5_ENST00000396253.3_Silent_p.S763S	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	877					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATGATATCCGATGGCAAAA	0.408									Hermansky-Pudlak syndrome																													uc001mod.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2629-2631)tcG>tcA		Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.							99	96	97					11																	18309168		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18309168C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2631G>A	11.37:g.18309168C>T						HPS5_uc001moe.1_Silent_p.S763S|HPS5_uc001mof.1_Silent_p.S763S	p.S877S	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN			17	2909	-			877					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.2631G>A	CCDS7836.1																																																																																				0.408	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18309168	C	T	18309168	2	4	197	1	0	0	0	0	0	0	0	1	7342	639	23	2		2	HPS5	11	18309168	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08		18309168	116697348	52	13915											
SLC5A12	159963	broad.mit.edu	37	chr11	26708091	26708091	+	Splice_Site	DEL	C	C	-																															acatcacgccaaataagagaCctgaaagaaagaaaaattac																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:26708091delC	ENST00000396005.3	-	10	1463	c.1154delG	c.(1153-1155)tgt>tt	p.C385fs		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	385					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATAAGAGACCTGAAAGAAA	0.453																																						uc001mra.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.e10-1		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.							103	103	103					11																	26708091		1955	4146	6101	SO:0001630	splice_region_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26708091delC	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1154-1G>-	11.37:g.26708091delC						SLC5A12_uc001mrb.2_Splice_Site	p.C385_splice	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			10	1467	-			385					Q86UC7	Frame_Shift_Del	DEL	ENST00000396005.3	37	c.1154_splice	CCDS7860.2																																																																																				0.453	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	Frame_Shift_Del	-	26708091	C	-	26708091	8	5	197	1	0	1	0	1	0	0	1	0	14664	521	18	0	726	0	SLC5A12	11	26708091	Splice_Site	DEL	C	TCGA-27-2527-01A-01D-1494-08	8398923	26708091	108298425	53	13916											
EXT2	2132	broad.mit.edu	37	chr11	44129545	44129545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacgtgttttgatgtctatCgctgtggcttcaacccaaag	9	13	9	10	2	2	1	1	1	1	0	3	1	2	1	1	1	1	3	1	1	3	4	rs376292686	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:44129545C>T	ENST00000343631.3	+	2	412	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	EXT2_ENST00000533608.1_Missense_Mutation_p.R95C|EXT2_ENST00000358681.4_Missense_Mutation_p.R95C|EXT2_ENST00000395673.3_Missense_Mutation_p.R128C			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	95					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R95C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGATGTCTATCGCTGTGGCTT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				C|||	2	0.000399361	0.0015	0	5008	,	,		22512	0		0	False		,,,				2504	0					uc001mya.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			1	Substitution - Missense(1)	p.R95C(1)	skin(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(382-384)Cgc>Tgc		Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	91	78	82		382,283,283	5.4	1	11		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	EXT2	NM_000401.3,NM_001178083.1,NM_207122.1	180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	128/752,95/729,95/719	44129545	2,13004	2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129545C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.283C>T	11.37:g.44129545C>T	ENSP00000342656:p.Arg95Cys					EXT2_uc010rfo.2_Missense_Mutation_p.R123C|EXT2_uc009ykt.3_Missense_Mutation_p.R95C|EXT2_uc001mxz.3_Missense_Mutation_p.R95C	p.R128C	NM_000401	NP_000392	Q93063	EXT2_HUMAN			1	438	+			95					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.382C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161121	0.78226	0.0	2.33E-4	ENSG00000151348	ENST00000533608;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	D;T;D;D;D	0.96967	-4.16;-0.55;-4.17;-4.19;-4.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96324	0.8801	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.72338	0.759;0.95;0.977;0.935;0.935	D	0.97083	0.9785	10	0.87932	D	0	-19.6769	15.6445	0.77036	0.1376:0.8624:0.0:0.0	.	95;95;95;95;108	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	C	95;95;95;128;95	ENSP00000431173:R95C;ENSP00000434716:R95C;ENSP00000351509:R95C;ENSP00000379032:R128C;ENSP00000342656:R95C	ENSP00000342656:R95C	R	+	1	0	EXT2	44086121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.888000	0.56204	2.568000	0.86640	0.650000	0.86243	CGC		0.512	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		T	44129545	C	T	44129545	3	4	197	1	0	0	0	0	1	0	0	0	5324	884	31	2	388	2	EXT2	11	44129545	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	17421454	44129545	90876971	54	13917											
OR4A5	81318	broad.mit.edu	37	chr11	51412077	51412077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggaagacctcagcccCaccaaagaaatggtctataa	17	5	8	11	0	2	3	1	0	1	3	2	4	2	4	4	2	1	0	4	2	6	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:51412077C>T	ENST00000319760.6	-	1	371	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTCAGCCCCACCAAAGAAA	0.443																																						uc001nhi.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(319-321)Ggg>Agg		Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.							67	67	67					11																	51412077		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412077C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.319G>A	11.37:g.51412077C>T	ENSP00000367664:p.Gly107Arg						p.G107R	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			0	372	-		all_lung(304;0.236)	107					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.319G>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	6.075	0.382195	0.11524	.	.	ENSG00000221840	ENST00000319760	T	0.09817	2.94	1.93	0.953	0.19590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	T	0.36248	0.0960	H	0.94658	3.565	0.09310	N	1	D	0.65815	0.995	D	0.71184	0.972	T	0.12372	-1.0550	10	0.72032	D	0.01	.	6.9356	0.24464	0.0:0.8398:0.0:0.1602	rs5002407;rs5002407	107	Q8NH83	OR4A5_HUMAN	R	107	ENSP00000367664:G107R	ENSP00000367664:G107R	G	-	1	0	OR4A5	51268653	0.000000	0.05858	0.324000	0.25361	0.002000	0.02628	-1.708000	0.01891	0.377000	0.24735	-1.608000	0.00805	GGG		0.443	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		T	51412077	C	T	51412077	3	4	197	1	0	0	0	0	1	0	0	0	11043	594	21	3	632	3	OR4A5	11	51412077	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	7282532	51412077	83594439	55	13918											
MMP13	4322	broad.mit.edu	37	chr11	102816396	102816396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttctcatagacagcatCtactttatcaccaattcctg	11	16	3	11	0	3	1	2	0	2	1	5	1	4	1	2	0	2	1	2	0	4	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102816396C>A	ENST00000260302.3	-	9	1322	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y	MMP13_ENST00000340273.4_Missense_Mutation_p.D432Y	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	432	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TAGACAGCATCTACTTTATCA	0.328																																						uc001phl.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1294-1296)Gat>Tat		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							149	156	153					11																	102816396		2202	4297	6499	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102816396C>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1294G>T	11.37:g.102816396C>A	ENSP00000260302:p.Asp432Tyr						p.D432Y	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	8	1323	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	432			Hemopexin-like 4.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1294G>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079598	0.55753	.	.	ENSG00000137745	ENST00000260302;ENST00000340273	T;T	0.20881	3.03;2.04	6.16	6.16	0.99307	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63484	-0.6627	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	432	P45452	MMP13_HUMAN	Y	432	ENSP00000260302:D432Y;ENSP00000339672:D432Y	ENSP00000260302:D432Y	D	-	1	0	MMP13	102321606	0.986000	0.35501	0.993000	0.49108	0.320000	0.28249	2.308000	0.43690	2.937000	0.99478	0.650000	0.86243	GAT		0.328	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		A	102816396	C	A	102816396	3	1	197	1	0	0	0	0	1	0	0	0	9652	913	32	5	129	5	MMP13	11	102816396	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	51404319	102816396	32190120	56	13919											
MMP13	4322	broad.mit.edu	37	chr11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgttatcgtcaagtttgCcagtcacctctaagccgaag	10	11	10	10	2	3	0	2	0	1	0	4	1	3	0	3	1	2	2	3	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473																																						uc001phl.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(241-243)gGc>gAc		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							155	150	152					11																	102826101		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826101C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.242G>A	11.37:g.102826101C>T	ENSP00000260302:p.Gly81Asp						p.G81D	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	1	271	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	81					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.242G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		0.473	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		T	102826101	C	T	102826101	3	4	197	1	0	0	0	0	1	0	0	0	9652	739	26	3	1209	3	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	9705	102826101	32180415	57	13920											
OR10G8	219869	broad.mit.edu	37	chr11	123900834	123900834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatttgccctactgtGgacccaactggatccagcac	8	11	7	15	0	0	0	0	0	0	0	2	2	2	2	4	2	4	1	4	2	2	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:123900834G>A	ENST00000431524.1	+	1	538	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCTACTGTGGACCCAACTG	0.537																																						uc001pzp.1																			0		p.G169A(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(505-507)Gga>Aga		Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.							205	184	191					11																	123900834		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900834G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.505G>A	11.37:g.123900834G>A	ENSP00000389072:p.Gly169Arg						p.G169R	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	505	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	169					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.505G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972463	0.34848	.	.	ENSG00000234560	ENST00000431524	T	0.38560	1.13	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000229	T	0.60431	0.2268	M	0.71581	2.175	0.33443	D	0.582611	D	0.89917	1.0	D	0.97110	1.0	T	0.72833	-0.4173	10	0.87932	D	0	.	11.4582	0.50193	0.0:0.1838:0.8162:0.0	.	169	Q8NGN5	O10G8_HUMAN	R	169	ENSP00000389072:G169R	ENSP00000389072:G169R	G	+	1	0	OR10G8	123406044	0.998000	0.40836	0.989000	0.46669	0.406000	0.30931	1.187000	0.32090	1.684000	0.51022	0.650000	0.86243	GGA		0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900834	G	A	123900834	3	1	197	1	0	0	0	0	1	0	0	0	10903	1349	47	3	507	3	OR10G8	11	123900834	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	21074733	123900834	11105682	58	13921											
CACNA1C	775	broad.mit.edu	37	chr12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggggcaactacatcaCgtacaaagacggggaggttg	12	7	13	9	2	2	1	2	0	1	1	3	2	2	2	0	5	3	3	0	5	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:2716164C>T	ENST00000347598.4	+	27	3284	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557																																						uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3283-3285)aCg>aTg		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						63	66	65					12																	2716164		2072	4233	6305	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2716164C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3284C>T	12.37:g.2716164C>T	ENSP00000266376:p.Thr1095Met					CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkj.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkk.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkm.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M	p.T1095M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	26	3597	+			1095					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3284C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.322899	0.41096	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96685	-4.02;-4.01;-4.05;-4.01;-4.04;-4.01;-4.03;-3.92;-3.97;-4.01;-3.96;-3.94;-4.01;-4.09;-3.96;-3.86;-4.08;-4.02;-4.01;-4.05;-3.96;-4.04;-4.08	4.86	4.86	0.63082	Ion transport (1);	0.202841	0.52532	D	0.000071	D	0.97099	0.9052	L	0.42529	1.33	0.38378	D	0.945041	D;P;B;D;P;P;B;B;B;B;B;B;B;P;P;B;B;P;B;B;P;P;B;B;B	0.89917	1.0;0.466;0.265;1.0;0.719;0.466;0.212;0.224;0.024;0.33;0.239;0.123;0.212;0.469;0.636;0.414;0.4;0.525;0.119;0.239;0.525;0.525;0.286;0.013;0.286	D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.91635	0.999;0.071;0.041;0.999;0.148;0.071;0.091;0.024;0.024;0.071;0.023;0.04;0.091;0.04;0.284;0.034;0.058;0.049;0.04;0.034;0.071;0.049;0.024;0.011;0.047	D	0.97646	1.0151	10	0.46703	T	0.11	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	1075;1072;1095;1075;1075;1075;1075;1075;1075;1095;1075;1046;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1100;1075;1075;1075;1075;1075;1075;1075;1075;1075;1095;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;916	ENSP00000336982:T1100M;ENSP00000382563:T1075M;ENSP00000437936:T1075M;ENSP00000382552:T1075M;ENSP00000382547:T1075M;ENSP00000382506:T1075M;ENSP00000382530:T1075M;ENSP00000382546:T1075M;ENSP00000382500:T1075M;ENSP00000382549:T1075M;ENSP00000266376:T1095M;ENSP00000382515:T1095M;ENSP00000382510:T1075M;ENSP00000341092:T1075M;ENSP00000382537:T1075M;ENSP00000329877:T1075M;ENSP00000382557:T1075M;ENSP00000385724:T1075M;ENSP00000382512:T1075M;ENSP00000382542:T1075M;ENSP00000382526:T1075M;ENSP00000385896:T1075M;ENSP00000382504:T1075M	ENSP00000323129:T916M	T	+	2	0	CACNA1C	2586425	0.139000	0.22563	0.995000	0.50966	0.979000	0.70002	1.089000	0.30890	2.687000	0.91594	0.651000	0.88453	ACG		0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2716164	C	T	2716164	3	4	197	1	0	0	0	0	1	0	0	0	2540	536	19	1	3498	1	CACNA1C	12	2716164	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		2716164	131135731	59	13922											
C1S	716	broad.mit.edu	37	chr12	7174399	7174399	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagcaatggaaagtggagTaattccaaactgaaatgtca	18	8	9	6	0	1	1	1	1	0	0	2	3	2	3	1	2	2	2	1	2	6	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:7174399T>A	ENST00000406697.1	+	12	1672	c.1044T>A	c.(1042-1044)agT>agA	p.S348R	C1S_ENST00000360817.5_Missense_Mutation_p.S348R|C1S_ENST00000328916.3_Missense_Mutation_p.S348R|C1S_ENST00000402681.3_Missense_Mutation_p.S181R|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	348	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAAGTGGAGTAATTCCAAAC	0.368																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1042-1044)agT>agA		Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						140	129	133					12																	7174399		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7174399T>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1044T>A	12.37:g.7174399T>A	ENSP00000385035:p.Ser348Arg					C1S_uc001qsk.3_Missense_Mutation_p.S348R|C1S_uc001qsl.3_Missense_Mutation_p.S348R|C1S_uc009zfr.3_Missense_Mutation_p.S181R|C1S_uc009zfs.3_Non-coding_Transcript	p.S348R	NM_201442	NP_958850	P09871	C1S_HUMAN			11	1763	+			348			Sushi 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1044T>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043461	0.75732	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.74	0.327	0.15913	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000128	T	0.78641	0.4315	M	0.93150	3.385	0.35945	D	0.83347	P	0.47677	0.899	P	0.55222	0.771	T	0.79065	-0.1956	10	0.35671	T	0.21	.	7.8564	0.29485	0.0:0.4601:0.0:0.5398	.	348	P09871	C1S_HUMAN	R	348;348;348;336;181	ENSP00000385035:S348R;ENSP00000328173:S348R;ENSP00000354057:S348R;ENSP00000384171:S181R	ENSP00000328173:S348R	S	+	3	2	C1S	7044660	0.996000	0.38824	0.968000	0.41197	0.961000	0.63080	0.588000	0.23924	0.036000	0.15547	0.459000	0.35465	AGT		0.368	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		A	7174399	T	A	7174399	3	1	197	1	0	0	0	0	1	0	0	0	1974	1635	57	5	1074	5	C1S	12	7174399	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	4458235	7174399	126677496	60	13923											
SYT10	341359	broad.mit.edu	37	chr12	33538180	33538180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatacgcccagccgtcGgtaggtaacaaagggaaaac	14	6	11	10	3	1	0	1	0	0	0	2	1	1	1	2	3	4	2	2	3	6	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:33538180G>A	ENST00000228567.3	-	4	1420	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L	SYT10_ENST00000535526.1_Missense_Mutation_p.P194L	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	375	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCAGCCGTCGGTAGGTAACA	0.438																																						uc001rll.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1123-1125)cCg>cTg		Homo sapiens synaptotagmin X (SYT10), mRNA.							132	110	117					12																	33538180		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33538180G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1124C>T	12.37:g.33538180G>A	ENSP00000228567:p.Pro375Leu					SYT10_uc009zju.1_Missense_Mutation_p.P185L	p.P375L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			3	1421	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		375			C2 2.		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1124C>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454775	0.63290	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.75367	-0.93;-0.93	4.6	3.7	0.42460	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.41194	U	0.000922	D	0.86176	0.5870	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88131	0.2838	10	0.87932	D	0	.	12.689	0.56964	0.0822:0.0:0.9178:0.0	.	375	Q6XYQ8	SYT10_HUMAN	L	375;194	ENSP00000228567:P375L;ENSP00000438691:P194L	ENSP00000228567:P375L	P	-	2	0	SYT10	33429447	1.000000	0.71417	0.616000	0.29078	0.419000	0.31324	9.057000	0.93889	1.243000	0.43853	0.557000	0.71058	CCG		0.438	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		A	33538180	G	A	33538180	3	1	197	1	0	0	0	0	1	0	0	0	15463	1116	39	2	463	2	SYT10	12	33538180	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	26363781	33538180	100313715	61	13924											
C12orf68	387856	broad.mit.edu	37	chr12	48578422	48578422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctccttgggggggacgggCcacttgtggagcccctcgac	4	8	16	13	2	1	0	0	0	1	0	3	3	1	2	4	5	1	0	4	5	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:48578422C>T	ENST00000316554.3	+	1	1057	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		173						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGGGGACGGGCCACTTGTGGA	0.662																																						uc001rrj.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						c.(517-519)Cca>Tca		Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.							8	8	8					12																	48578422		2163	4226	6389	SO:0001583	missense	387856					cytoplasm		g.chr12:48578422C>T																												ENST00000316554.3:c.517C>T	12.37:g.48578422C>T	ENSP00000320849:p.Pro173Ser						p.P173S	NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN			0	1057	+			173					Q96MK5|Q96N39	Missense_Mutation	SNP	ENST00000316554.3	37	c.517C>T	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044591	0.19748	.	.	ENSG00000177875	ENST00000316554	T	0.59772	0.24	5.22	4.34	0.51931	.	0.118826	0.38720	N	0.001596	T	0.36580	0.0972	N	0.08118	0	0.33454	D	0.584109	B	0.14805	0.011	B	0.19946	0.027	T	0.47560	-0.9108	10	0.87932	D	0	-0.3623	9.4528	0.38736	0.0:0.905:0.0:0.095	.	173	Q52MB2	CL068_HUMAN	S	173	ENSP00000320849:P173S	ENSP00000320849:P173S	P	+	1	0	C12orf68	46864689	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	1.397000	0.34543	1.435000	0.47434	0.563000	0.77884	CCA		0.662	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406514.1			T	48578422	C	T	48578422	3	4	197	1	0	0	0	0	1	0	0	0	1710	739	26	3	519	3	C12orf68	12	48578422	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	15040242	48578422	85273473	62	13925											
SCN8A	6334	broad.mit.edu	37	chr12	52180608	52180608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatacctggcccttcttcaaGtagtaagtagtgtttttgtt	8	17	9	7	0	2	0	1	0	1	0	2	1	2	0	2	1	1	5	2	1	5	9			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:52180608G>A	ENST00000354534.6	+	22	4403	c.4225G>A	c.(4225-4227)Gta>Ata	p.V1409I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1368I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1409					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTTCTTCAAGTAGTAAGTAG	0.403																																						uc001ryw.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4225-4227)Gta>Ata		Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						60	59	59					12																	52180608		1867	4098	5965	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52180608G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4225G>A	12.37:g.52180608G>A	ENSP00000346534:p.Val1409Ile					SCN8A_uc010snl.2_Missense_Mutation_p.V1368I|SCN8A_uc001rza.1_Non-coding_Transcript	p.V1409I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	21	4403	+			1409					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4225G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000708	0.93227	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.97620	-4.46;-4.46;-4.46	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.959;0.994	D	0.98528	1.0626	10	0.87932	D	0	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	1368;1409	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	I	1409;1368;1368	ENSP00000346534:V1409I;ENSP00000440360:V1368I;ENSP00000347255:V1368I	ENSP00000346534:V1409I	V	+	1	0	SCN8A	50466875	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.584000	0.74057	2.906000	0.99361	0.655000	0.94253	GTA		0.403	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52180608	G	A	52180608	3	1	197	1	0	0	0	0	1	0	0	0	13924	1029	36	3	4307	3	SCN8A	12	52180608	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	3602186	52180608	81671287	63	13926											
KIAA0748	9840	broad.mit.edu	37	chr12	55356553	55356553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagagtttgggatggtgCtagcactgtggacatcctct	8	12	12	9	0	1	1	0	0	1	1	3	3	3	3	2	3	2	3	2	3	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:55356553C>T	ENST00000449076.1	-	9	1261	c.1129G>A	c.(1129-1131)Gca>Aca	p.A377T	TESPA1_ENST00000531122.1_Missense_Mutation_p.A239T|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.A239T|TESPA1_ENST00000316577.8_Missense_Mutation_p.A377T|TESPA1_ENST00000524622.1_Missense_Mutation_p.A239T	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	377					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TGGGATGGTGCTAGCACTGTG	0.527																																						uc010spd.1																			0											c.(1129-1131)Gca>Aca		Homo sapiens KIAA0748 (KIAA0748), mRNA.							74	73	74					12																	55356553		2003	4176	6179	SO:0001583	missense	9840							g.chr12:55356553C>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1129G>A	12.37:g.55356553C>T	ENSP00000400892:p.Ala377Thr					TESPA1_uc001sgl.3_Missense_Mutation_p.A239T|TESPA1_uc001sgm.3_Missense_Mutation_p.A124T|TESPA1_uc010spb.1_Missense_Mutation_p.A124T|TESPA1_uc010spc.1_Missense_Mutation_p.A239T|TESPA1_uc001sgn.3_Missense_Mutation_p.A377T	p.A377T	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN			8	1262	-			377					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1129G>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593298	0.28357	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.48836	0.8;0.8;0.81;0.81;0.8	4.15	-2.3	0.06785	.	1.493090	0.04320	N	0.350579	T	0.30696	0.0773	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.14172	-1.0482	10	0.44086	T	0.13	-0.0323	0.8645	0.01200	0.1704:0.3096:0.1443:0.3757	.	377	A2RU30	K0748_HUMAN	T	239;239;377;377;239	ENSP00000435622:A239T;ENSP00000432030:A239T;ENSP00000400892:A377T;ENSP00000312679:A377T;ENSP00000433098:A239T	ENSP00000312679:A377T	A	-	1	0	KIAA0748	53642820	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-0.485000	0.06754	-0.844000	0.03045	GCA		0.527	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		T	55356553	C	T	55356553	3	4	197	1	0	0	0	0	1	0	0	0	8190	797	28	3	444	3	KIAA0748	12	55356553	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	3175945	55356553	78495342	64	13927											
GPR109A	338442	broad.mit.edu	37	chr12	123187080	123187080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaagatgcggatccGcacaaccacgctgggaagga	13	3	14	11	3	0	2	0	0	0	2	1	6	1	5	3	3	3	2	3	3	3	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:123187080G>A	ENST00000328880.5	-	1	810	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	251					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	ATGCGGATCCGCACAACCACG	0.542																																						uc001ucx.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(751-753)Cgg>Tgg		Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)						154	124	134					12																	123187080		2202	4300	6502	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187080G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.751C>T	12.37:g.123187080G>A	ENSP00000375066:p.Arg251Trp					HCAR1_uc001ucw.1_Intron	p.R251W	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN			0	825	-			251					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.751C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906200	0.33628	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.38401	1.14	4.97	-0.862	0.10673	GPCR, rhodopsin-like superfamily (1);	0.092068	0.41823	D	0.000814	T	0.55609	0.1931	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56721	-0.7932	10	0.72032	D	0.01	-22.1262	14.8977	0.70656	0.0:0.0:0.2284:0.7716	.	251	Q8TDS4	HCAR2_HUMAN	W	251	ENSP00000375066:R251W	ENSP00000375066:R251W	R	-	1	2	HCAR2	121753033	0.000000	0.05858	0.085000	0.20634	0.279000	0.26890	0.525000	0.22956	0.029000	0.15352	-0.311000	0.09066	CGG		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		A	123187080	G	A	123187080	3	1	197	1	0	0	0	0	1	0	0	0	6625	1086	38	1	344	1	GPR109A	12	123187080	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	67830527	123187080	10664815	65	13928											
KLHL1	57626	broad.mit.edu	37	chr13	70535514	70535514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgatctcctcttgcttgGcttcacaaacatcacttgta	8	17	5	11	0	4	1	2	1	2	0	5	1	4	1	1	1	2	3	1	1	2	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr13:70535514G>A	ENST00000377844.4	-	3	1502	c.743C>T	c.(742-744)gCc>gTc	p.A248V	KLHL1_ENST00000545028.1_Missense_Mutation_p.A55V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	248	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTTGCTTGGCTTCACAAAC	0.413																																						uc001vip.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(742-744)gCc>gTc		Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.							158	137	144					13																	70535514		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535514G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.743C>T	13.37:g.70535514G>A	ENSP00000367075:p.Ala248Val					KLHL1_uc010thm.2_Missense_Mutation_p.A187V	p.A248V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1537	-		Breast(118;0.000162)	248			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.743C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352952	0.95830	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.71698	-0.59;-0.59	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	D	0.83830	0.5339	M	0.71871	2.18	0.52099	D	0.999943	D;D	0.76494	0.999;0.993	D;D	0.75484	0.986;0.967	D	0.85486	0.1182	10	0.72032	D	0.01	.	18.8503	0.92225	0.0:0.0:1.0:0.0	.	248;248	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	248;55	ENSP00000367075:A248V;ENSP00000439602:A55V	ENSP00000367075:A248V	A	-	2	0	KLHL1	69433515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.805000	0.99149	2.531000	0.85337	0.563000	0.77884	GCC		0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		A	70535514	G	A	70535514	3	1	197	1	0	0	0	0	1	0	0	0	8365	1203	42	3	1539	3	KLHL1	13	70535514	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		70535514	44634364	66	13929											
SPTB	6710	broad.mit.edu	37	chr14	65245925	65245925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcagattagtgccatagtCggctgactgggccagaggca	9	9	14	9	1	0	3	0	1	0	2	1	3	0	3	2	3	2	3	2	3	2	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr14:65245925C>T	ENST00000389721.5	-	21	4545	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	SPTB_ENST00000389722.3_Missense_Mutation_p.D1505N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1505N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1505N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1505N	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1505					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCCATAGTCGGCTGACTGG	0.587																																						uc001xht.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4513-4515)Gac>Aac		Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.							70	70	70					14																	65245925		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65245925C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4513G>A	14.37:g.65245925C>T	ENSP00000374371:p.Asp1505Asn					SPTB_uc001xhr.3_Missense_Mutation_p.D1505N|SPTB_uc001xhs.3_Missense_Mutation_p.D1505N|SPTB_uc001xhu.3_Missense_Mutation_p.D1505N|SPTB_uc010aqi.3_Missense_Mutation_p.D166N	p.D1505N	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4564	-		all_lung(585;4.15e-09)	1505					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4513G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048619	0.55110	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	5.37	3.55	0.40652	.	0.103861	0.64402	N	0.000004	T	0.40094	0.1103	L	0.27053	0.805	0.49299	D	0.999779	B;B;B	0.31611	0.055;0.015;0.331	B;B;B	0.33196	0.06;0.04;0.159	T	0.30416	-0.9979	10	0.54805	T	0.06	.	11.3915	0.49817	0.0:0.8499:0.0:0.1501	.	289;1505;1509	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	N	1509;1505;289;170;1505;1505;1505;1505	ENSP00000374372:D1505N;ENSP00000451324:D170N;ENSP00000451752:D1505N;ENSP00000374371:D1505N;ENSP00000443882:D1505N;ENSP00000374370:D1505N	ENSP00000334218:D289N	D	-	1	0	SPTB	64315678	0.996000	0.38824	0.652000	0.29579	0.942000	0.58702	3.329000	0.52060	0.749000	0.32854	0.561000	0.74099	GAC		0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65245925	C	T	65245925	3	4	197	1	0	0	0	0	1	0	0	0	15117	884	31	2	2602	2	SPTB	14	65245925	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		65245925	42103615	67	13930											
SPTBN5	51332	broad.mit.edu	37	chr15	42168354	42168354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgggtggcgagtagctcGctctcagctgcttcgtgccg	3	10	15	13	5	1	0	1	0	1	0	4	1	1	0	1	2	5	5	1	2	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:42168354G>A	ENST00000320955.6	-	21	4307	c.4080C>T	c.(4078-4080)agC>agT	p.S1360S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1360					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGTAGCTCGCTCTCAGCTG	0.622																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3973-3975)agC>agT		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							45	51	49					15																	42168354		2150	4259	6409	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168354G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4080C>T	15.37:g.42168354G>A							p.S1325S	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	20	4308	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1360						Silent	SNP	ENST00000320955.6	37	c.3975C>T																																																																																					0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42168354	G	A	42168354	2	1	197	1	0	0	0	0	0	0	0	1	15121	1078	38	1		1	SPTBN5	15	42168354	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08		42168354	60363038	68	13931											
HERC1	8925	broad.mit.edu	37	chr15	63948489	63948489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgccaagcacattaatCgaactagcgttcggatatct	11	11	8	11	3	1	0	0	0	1	0	3	2	1	1	1	1	5	3	1	1	5	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:63948489C>T	ENST00000443617.2	-	49	9755	c.9668G>A	c.(9667-9669)cGa>cAa	p.R3223Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3223					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACATTAATCGAACTAGCGT	0.532																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(9667-9669)cGa>cAa		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							48	49	48					15																	63948489		1963	4156	6119	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948489C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9668G>A	15.37:g.63948489C>T	ENSP00000390158:p.Arg3223Gln						p.R3223Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			48	9816	-			3223					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9668G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761200	0.96906	.	.	ENSG00000103657	ENST00000443617	T	0.27557	1.66	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000003	T	0.52141	0.1716	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.54483	-0.8287	10	0.72032	D	0.01	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	3223	Q15751	HERC1_HUMAN	Q	3223	ENSP00000390158:R3223Q	ENSP00000390158:R3223Q	R	-	2	0	HERC1	61735542	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.698000	0.84413	2.453000	0.82957	0.655000	0.94253	CGA		0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63948489	C	T	63948489	3	4	197	1	0	0	0	0	1	0	0	0	7057	884	31	2	5037	2	HERC1	15	63948489	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	21780135	63948489	38582903	69	13932											
TMC3	342125	broad.mit.edu	37	chr15	81628948	81628948	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaagaaacggaaatacttAccttctaccatctgggcaac	17	8	6	10	1	2	1	0	0	2	1	2	2	2	2	2	2	5	1	2	2	8	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:81628948A>G	ENST00000359440.5	-	20	2339		c.e20+1		RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Splice_Site	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAAATACTTACCTTCTACCA	0.428																																						uc021ssk.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.e20+1		Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.							253	249	251					15																	81628948		1898	4107	6005	SO:0001630	splice_region_variant	342125					integral to membrane		g.chr15:81628948A>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2203+1T>C	15.37:g.81628948A>G						TMC3_uc021ssj.1_Splice_Site|TMC3_uc010blr.1_Splice_Site	p.A735_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			20	2203	-			735	A -> AA (in Ref. 1; AAP78778).					Splice_Site	SNP	ENST00000359440.5	37	c.2203_splice	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863956	0.71949	.	.	ENSG00000188869	ENST00000359440	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5872	0.61937	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMC3	79416003	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	6.342000	0.72982	1.930000	0.55929	0.454000	0.30748	.		0.428	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	Intron	G	81628948	A	G	81628948	5	3	197	1	0	0	0	0	0	0	1	0	15983	405	14	4	1109	4	TMC3	15	81628948	Splice_Site	SNP	A	TCGA-27-2527-01A-01D-1494-08	17680459	81628948	20902444	70	13933											
IL34	146433	broad.mit.edu	37	chr16	70693910	70693910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttgcaggtaaacaaagCtccgtcctaaactggcagga	12	9	9	11	1	1	0	0	0	1	0	4	1	3	1	2	3	4	4	2	3	5	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr16:70693910C>A	ENST00000288098.2	+	6	932	c.549C>A	c.(547-549)agC>agA	p.S183R	IL34_ENST00000429149.2_Missense_Mutation_p.S183R|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.S158R	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	183					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTAAACAAAGCTCCGTCCTAA	0.562																																						uc002ezh.2																			0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(547-549)agC>agA		Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.							155	176	169					16																	70693910		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693910C>A	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.549C>A	16.37:g.70693910C>A	ENSP00000288098:p.Ser183Arg					IL34_uc002ezi.2_Missense_Mutation_p.S182R|IL34_uc021tkk.1_Missense_Mutation_p.S183R	p.S183R	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN			6	1104	+			183					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.549C>A	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590837	0.66219	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.49139	0.79;0.79	5.21	3.23	0.37069	.	0.113498	0.40640	N	0.001057	T	0.62998	0.2474	M	0.75447	2.3	0.27440	N	0.953757	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.965	T	0.56768	-0.7924	10	0.66056	D	0.02	-5.8176	8.3234	0.32142	0.0:0.8135:0.0:0.1865	.	182;183	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	R	183	ENSP00000397863:S183R;ENSP00000288098:S183R	ENSP00000288098:S183R	S	+	3	2	IL34	69251411	0.401000	0.25303	0.581000	0.28614	0.828000	0.46876	0.454000	0.21827	0.567000	0.29293	0.455000	0.32223	AGC		0.562	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		A	70693910	C	A	70693910	3	1	197	1	0	0	0	0	1	0	0	0	7694	796	28	5	571	5	IL34	16	70693910	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		70693910	19660843	71	13934											
TTC25	83538	broad.mit.edu	37	chr17	40092757	40092757	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attaagctggagaacaaaggGgacctctccttcttaagcaa	14	9	9	9	0	2	1	0	0	2	1	3	3	2	2	2	3	3	2	2	3	5	3	rs552309113	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:40092757G>A	ENST00000591658.1	+	0	497							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGAACAAAGGGGACCTCTCCT	0.522													G|||	3	0.000599042	0	0	5008	,	,		20584	0		0	False		,,,				2504	0.0031					uc002hyj.4																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(427-429)ggG>ggA		Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.							58	58	58					17																	40092757		1927	4112	6039			83538					cytoplasm	protein binding	g.chr17:40092757G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40092757G>A						TTC25_uc021txp.1_Silent_p.G143G	p.G143G	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			3	518	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	143					Q6NX40|Q6PJ04|Q9H0K5	Silent	SNP	ENST00000591658.1	37	c.429G>A																																																																																					0.522	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		A	40092757	G	A	40092757	1	1	197	0	1	0	0	0	0	0	0	0	16690	1219	43	3		3	TTC25	17	40092757	RNA	SNP	G	TCGA-27-2527-01A-01D-1494-08		40092757	41102453	72	13935											
BZRAP1	9256	broad.mit.edu	37	chr17	56389930	56389930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggcccccgctactgctgCcacccccacctacactcagg	6	8	7	20	1	1	0	1	0	0	0	1	0	1	0	6	2	4	2	6	2	2	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:56389930C>G	ENST00000343736.4	-	17	2415	c.2252G>C	c.(2251-2253)gGc>gCc	p.G751A	BZRAP1_ENST00000355701.3_Missense_Mutation_p.G751A|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G691A			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	751						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTACTGCTGCCACCCCCACC	0.632																																						uc002ivx.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2251-2253)gGc>gCc		Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.							67	57	60					17																	56389930		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389930C>G	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2252G>C	17.37:g.56389930C>G	ENSP00000345824:p.Gly751Ala					BZRAP1_uc010dcs.3_Missense_Mutation_p.G691A|BZRAP1_uc010wnt.2_Missense_Mutation_p.G751A	p.G751A	NM_004758	NP_004749	O95153	RIMB1_HUMAN			16	3123	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		751					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2252G>C	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205390	0.58234	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04454	3.62;3.62;3.63	4.87	4.87	0.63330	.	0.365309	0.32430	N	0.006111	T	0.11836	0.0288	L	0.56769	1.78	0.33189	D	0.550603	D;P;B	0.61080	0.989;0.663;0.397	P;B;B	0.55391	0.775;0.395;0.189	T	0.03433	-1.1037	10	0.44086	T	0.13	.	10.7324	0.46104	0.0:0.9137:0.0:0.0863	.	751;691;751	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	A	751;751;691	ENSP00000347929:G751A;ENSP00000345824:G751A;ENSP00000268893:G691A	ENSP00000268893:G691A	G	-	2	0	BZRAP1	53744929	0.996000	0.38824	1.000000	0.80357	0.813000	0.45954	1.282000	0.33226	2.528000	0.85240	0.462000	0.41574	GGC		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		G	56389930	C	G	56389930	3	3	197	1	0	0	0	0	1	0	0	0	1577	739	26	5	3381	5	BZRAP1	17	56389930	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	16297173	56389930	24805280	73	13936											
RYR1	6261	broad.mit.edu	37	chr19	38990280	38990280	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcgggtggccaggcgagAgcgtggaggagaacgccaat	10	4	18	9	4	0	2	0	0	0	2	0	5	0	3	2	5	3	0	2	5	2	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:38990280A>C	ENST00000359596.3	+	44	7033	c.7033A>C	c.(7033-7035)Agc>Cgc	p.S2345R	RYR1_ENST00000360985.3_Missense_Mutation_p.S2345R|RYR1_ENST00000355481.4_Missense_Mutation_p.S2345R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2345	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCAGGCGAGAGCGTGGAGGA	0.667																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7033-7035)Agc>Cgc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						38	35	36					19																	38990280		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990280A>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7033A>C	19.37:g.38990280A>C	ENSP00000352608:p.Ser2345Arg					RYR1_uc002oiu.3_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	p.S2345R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		43	7163	+	all_cancers(60;7.91e-06)		2345			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7033A>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540802	0.45280	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97665	-4.47;-4.48;-4.48	3.82	3.82	0.43975	Intracellular calcium-release channel (1);	0.000000	0.85682	U	0.000000	D	0.97763	0.9266	M	0.68593	2.085	0.49483	D	0.99979	D;P	0.69078	0.997;0.891	D;P	0.78314	0.991;0.467	D	0.98221	1.0478	10	0.87932	D	0	.	12.4081	0.55451	1.0:0.0:0.0:0.0	.	2345;2345	P21817-2;P21817	.;RYR1_HUMAN	R	2345	ENSP00000352608:S2345R;ENSP00000347667:S2345R;ENSP00000354254:S2345R	ENSP00000347667:S2345R	S	+	1	0	RYR1	43682120	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	9.130000	0.94437	1.595000	0.50050	0.247000	0.18012	AGC		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	38990280	A	C	38990280	3	2	197	1	0	0	0	0	1	0	0	0	13768	304	11	5	7207	5	RYR1	19	38990280	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		38990280	20138703	74	13937											
CADM4	199731	broad.mit.edu	37	chr19	44130439	44130439	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctggctgctgctcacTcctgccacaccccggtcaga	5	11	8	17	1	2	1	2	0	0	1	4	1	4	1	5	2	3	3	5	2	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:44130439T>C	ENST00000222374.2	-	5	549	c.501A>G	c.(499-501)ggA>ggG	p.G167G	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	167	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGCTGCTCACTCCTGCCACAC	0.592																																						uc002oxc.1																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.e5-1		Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.							91	81	84					19																	44130439		2203	4300	6503	SO:0001630	splice_region_variant	199731				cell adhesion	integral to membrane		g.chr19:44130439T>C	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.500-1A>G	19.37:g.44130439T>C							p.G167_splice	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			5	549	-		Prostate(69;0.0199)	167			Ig-like C2-type 1.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.500_splice	CCDS12627.1																																																																																				0.592	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296	Silent	C	44130439	T	C	44130439	5	2	197	1	0	0	0	0	0	0	1	0	2569	1565	54	4	685	4	CADM4	19	44130439	Splice_Site	SNP	T	TCGA-27-2527-01A-01D-1494-08	5140159	44130439	14998544	75	13938											
EML2	24139	broad.mit.edu	37	chr19	46124852	46124852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagagcccaaacacgccGccgtcgtgggcgcccagcac	8	2	13	18	6	0	1	0	0	0	1	1	1	0	1	4	1	3	2	4	1	1	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:46124852G>A	ENST00000245925.3	-	10	935	c.885C>T	c.(883-885)ggC>ggT	p.G295G	EML2_ENST00000589876.1_Silent_p.G295G|EML2_ENST00000587152.1_Silent_p.G496G|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Silent_p.G442G	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	295	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CAAACACGCCGCCGTCGTGGG	0.687																																						uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1486-1488)ggC>ggT		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.							33	34	34					19																	46124852		2200	4297	6497	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124852G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.885C>T	19.37:g.46124852G>A						EML2_uc002pcn.3_Silent_p.G295G|EML2_uc002pcp.3_Silent_p.G179G|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.G442G|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.G295G|EML2_uc010ekj.3_Missense_Mutation_p.A262V	p.G496G	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	12	1561	-		Ovarian(192;0.179)|all_neural(266;0.224)	295					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.1488C>T	CCDS12670.1																																																																																				0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		A	46124852	G	A	46124852	2	1	197	1	0	0	0	0	0	0	0	1	5097	1074	38	1		1	EML2	19	46124852	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	1994413	46124852	13004131	76	13939											
ZNF324B	388569	broad.mit.edu	37	chr19	58967238	58967238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcgcatccacagcggCgagacgccctacgcgtgccc	8	3	11	19	6	0	1	0	0	0	1	1	2	1	1	4	1	4	1	4	1	1	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:58967238C>T	ENST00000336614.4	+	4	1034	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ZNF324B_ENST00000545523.1_Silent_p.G309G|ZNF324B_ENST00000391696.1_Silent_p.G299G	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCACAGCGGCGAGACGCCCT	0.687																																						uc002qsv.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(925-927)ggC>ggT		Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.							18	16	17					19																	58967238		2121	4181	6302	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967238C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.927C>T	19.37:g.58967238C>T						ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	p.G309G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1034	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	309					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.927C>T	CCDS33138.1																																																																																				0.687	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		T	58967238	C	T	58967238	2	4	197	1	0	0	0	0	0	0	0	1	17842	755	27	1		1	ZNF324B	19	58967238	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	12842386	58967238	161745	77	13940											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212824	28212824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttggcatcgtacgaggtgCcagggagatcgcctgggagc	7	7	18	9	3	0	1	0	0	0	1	2	4	0	2	2	5	3	3	2	5	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr21:28212824C>A	ENST00000284984.3	-	5	1890	c.1436G>T	c.(1435-1437)gGc>gTc	p.G479V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	479	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTACGAGGTGCCAGGGAGATC	0.527																																						uc002ymf.3																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1435-1437)gGc>gTc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.							71	65	67					21																	28212824		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212824C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1436G>T	21.37:g.28212824C>A	ENSP00000284984:p.Gly479Val						p.G479V	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	4	1891	-		Breast(209;0.000962)	479			Disintegrin.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1436G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634237	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.12361	2.69	5.14	5.14	0.70334	ADAM, cysteine-rich (1);	.	.	.	.	T	0.53594	0.1806	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68907	-0.5285	9	0.87932	D	0	.	19.154	0.93503	0.0:1.0:0.0:0.0	.	479	Q9UHI8	ATS1_HUMAN	V	479	ENSP00000284984:G479V	ENSP00000284984:G479V	G	-	2	0	ADAMTS1	27134695	1.000000	0.71417	0.837000	0.33122	0.796000	0.44982	7.320000	0.79064	2.831000	0.97527	0.650000	0.86243	GGC		0.527	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			A	28212824	C	A	28212824	3	1	197	1	0	0	0	0	1	0	0	0	255	739	26	5	1487	5	ADAMTS1	21	28212824	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		28212824	19917071	78	13941											
PRAME	23532	broad.mit.edu	37	chr22	22893261	22893261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtctccaggtgaagaTgttgtcccttcatcagcact	9	12	10	10	0	3	3	2	2	1	1	5	3	4	3	2	2	1	2	2	2	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr22:22893261T>C	ENST00000398741.1	-	4	578	c.272A>G	c.(271-273)cAt>cGt	p.H91R	PRAME_ENST00000398743.2_Missense_Mutation_p.H91R|PRAME_ENST00000424204.2_Missense_Mutation_p.H75R|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000406503.1_Missense_Mutation_p.H91R|PRAME_ENST00000402697.1_Missense_Mutation_p.H91R|PRAME_ENST00000405655.3_Missense_Mutation_p.H91R|PRAME_ENST00000539862.1_Missense_Mutation_p.H75R|PRAME_ENST00000543184.1_Missense_Mutation_p.H91R	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	91					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTGAAGATGTTGTCCCTT	0.582																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(271-273)cAt>cGt		Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.							130	106	114					22																	22893261		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22893261T>C	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.272A>G	22.37:g.22893261T>C	ENSP00000381726:p.His91Arg					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.H75R|PRAME_uc010gtr.3_Missense_Mutation_p.H91R|PRAME_uc002zwg.3_Missense_Mutation_p.H91R|PRAME_uc002zwh.3_Missense_Mutation_p.H91R|PRAME_uc002zwi.3_Missense_Mutation_p.H91R|PRAME_uc002zwj.3_Missense_Mutation_p.H91R|PRAME_uc002zwk.3_Missense_Mutation_p.H91R	p.H91R	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	2	428	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	91					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.272A>G	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	t	0.016	-1.538640	0.00942	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709;ENST00000406503	T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.46	1.3	0.21679	.	0.718032	0.12683	N	0.447809	T	0.08670	0.0215	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	10	0.15952	T	0.53	.	3.3663	0.07204	0.0:0.2285:0.2061:0.5653	.	91	P78395	PRAME_HUMAN	R	91;91;91;91;75;91;75;91;91;91	ENSP00000381728:H91R;ENSP00000445675:H91R;ENSP00000381726:H91R;ENSP00000384343:H91R;ENSP00000445097:H75R;ENSP00000385198:H91R;ENSP00000407342:H75R;ENSP00000407320:H91R;ENSP00000412318:H91R;ENSP00000384058:H91R	ENSP00000381726:H91R	H	-	2	0	PRAME	21223261	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.458000	0.21892	0.216000	0.20781	-0.290000	0.09829	CAT		0.582	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		C	22893261	T	C	22893261	3	2	197	1	0	0	0	0	1	0	0	0	12424	1464	51	4	1269	4	PRAME	22	22893261	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		22893261	28411305	79	13942											
FRMD7	90167	broad.mit.edu	37	chrX	131212279	131212279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgattggctctgggacCttttaggggtttgctcttga	4	17	13	7	0	3	2	0	2	3	0	3	3	3	3	1	4	1	3	1	4	1	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:131212279C>A	ENST00000298542.4	-	12	1941	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	FRMD7_ENST00000370879.1_Missense_Mutation_p.R469M|FRMD7_ENST00000464296.1_Missense_Mutation_p.R574M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	589					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGGGACCTTTTAGGGGT	0.433																																						uc004ewn.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1765-1767)aGg>aTg		Homo sapiens FERM domain containing 7 (FRMD7), mRNA.							112	101	104					X																	131212279		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212279C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1766G>T	X.37:g.131212279C>A	ENSP00000298542:p.Arg589Met					FRMD7_uc022cdy.1_Missense_Mutation_p.R469M|FRMD7_uc011muy.2_Missense_Mutation_p.R574M	p.R589M	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			11	1944	-	Acute lymphoblastic leukemia(192;0.000127)		589					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1766G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223052	0.58668	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.90900	-2.75;-2.37;-2.46	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	D	0.94948	0.8366	M	0.71036	2.16	0.38144	D	0.93853	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.96404	0.9299	10	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	574;589	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	M	469;589;574	ENSP00000359916:R469M;ENSP00000298542:R589M;ENSP00000417996:R574M	ENSP00000298542:R589M	R	-	2	0	FRMD7	131039960	0.999000	0.42202	0.997000	0.53966	0.694000	0.40290	5.868000	0.69605	2.190000	0.69967	0.594000	0.82650	AGG		0.433	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		A	131212279	C	A	131212279	3	1	197	1	0	0	0	0	1	0	0	0	6055	681	24	5	382	5	FRMD7	23	131212279	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		131212279	24058281	80	13943											
GPR50	9248	broad.mit.edu	37	chrX	150349759	150349759	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggcctctagccctgcCgctgggcccaccaagcctgc	5	6	12	18	2	1	0	0	0	1	0	2	1	1	0	6	2	4	1	6	2	2	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:150349759C>T	ENST00000218316.3	+	2	1773	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	568	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCCGCTGGGCCCA	0.602																																						uc010ntg.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1702-1704)gcC>gcT		Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.							71	77	75					X																	150349759		2149	4240	6389	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349759C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1704C>T	X.37:g.150349759C>T							p.A568A	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	1842	+	Acute lymphoblastic leukemia(192;6.56e-05)		568			Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1704C>T	CCDS44012.1																																																																																				0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150349759	C	T	150349759	2	4	197	1	0	0	0	0	0	0	0	1	6697	639	23	2		2	GPR50	23	150349759	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	19137480	150349759	4920801	81	13944											
CELA3B	23436	broad.mit.edu	37	chr1	22313121	22313121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttggctgcaacacccGcaggaagcccacggtgttca	8	8	11	14	2	1	0	1	0	0	0	1	1	1	1	3	3	4	4	3	3	2	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:22313121G>A	ENST00000337107.6	+	7	759	c.740G>A	c.(739-741)cGc>cAc	p.R247H	RN7SL386P_ENST00000485776.2_RNA|CELA3B_ENST00000473526.1_3'UTR|RNU6-1022P_ENST00000365049.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCAACACCCGCAGGAAGCCC	0.622																																						uc001bfk.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(739-741)cGc>cAc		Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.							78	69	72					1																	22313121		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22313121G>A	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.740G>A	1.37:g.22313121G>A	ENSP00000338369:p.Arg247His					CELA3B_uc009vqf.3_Intron	p.R247H	NM_007352	NP_031378	P08861	CEL3B_HUMAN			6	855	+			247			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.740G>A	CCDS219.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.803409	0.00611	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.88818	-2.43;-2.43	4.05	-8.09	0.01090	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	5.081690	0.00397	N	0.000044	T	0.74191	0.3684	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.66941	-0.5796	10	0.16420	T	0.52	4.6722	2.678	0.05085	0.266:0.0702:0.37:0.2937	.	247	P08861	CEL3B_HUMAN	H	247;150	ENSP00000338369:R247H;ENSP00000383135:R150H	ENSP00000338369:R247H	R	+	2	0	CELA3B	22185708	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.967000	0.00088	-2.480000	0.00523	-3.385000	0.00040	CGC		0.622	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		A	22313121	G	A	22313121	3	1	198	1	0	0	0	0	1	0	0	0	3214	1087	38	1	766	1	CELA3B	1	22313121	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		22313121	226937500	1	13945											
ZNF683	257101	broad.mit.edu	37	chr1	26691223	26691223	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccagcacctggatttcGggcctgggaaggcagagctt	8	8	14	11	1	0	1	0	0	0	1	2	3	1	3	3	4	3	4	3	4	1	2	rs374469495		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:26691223G>A	ENST00000436292.1	-	4	934	c.814C>T	c.(814-816)Cga>Tga	p.R272*	ZNF683_ENST00000374204.1_Nonsense_Mutation_p.R272*|ZNF683_ENST00000349618.3_Nonsense_Mutation_p.R272*|ZNF683_ENST00000403843.1_Nonsense_Mutation_p.R272*			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	272					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCTGGATTTCGGGCCTGGGAA	0.652																																						uc001bmg.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(814-816)Cga>Tga		Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.							41	44	43					1																	26691223		2203	4300	6503	SO:0001587	stop_gained	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691223G>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.814C>T	1.37:g.26691223G>A	ENSP00000388792:p.Arg272*					ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	p.R272*	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	3	932	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	272					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Nonsense_Mutation	SNP	ENST00000436292.1	37	c.814C>T		.	.	.	.	.	.	.	.	.	.	G	14.26	2.481636	0.44147	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900	.	.	.	4.74	-9.48	0.00591	.	3.101020	0.01060	N	0.004627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	7.1035	1.2168	0.01916	0.2111:0.193:0.1455:0.4503	.	.	.	.	X	272;272;272;272;280	.	ENSP00000344095:R272X	R	-	1	2	ZNF683	26563810	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-1.543000	0.02194	-2.075000	0.00876	0.561000	0.74099	CGA		0.652	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		A	26691223	G	A	26691223	4	1	198	1	0	0	0	0	0	1	0	0	18087	1124	39	2	712	2	ZNF683	1	26691223	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	4378102	26691223	222559398	2	13946											
SPTA1	6708	broad.mit.edu	37	chr1	158614117	158614117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtctaaggaacttttgtCatctgacctcagggaattct	10	14	8	9	0	5	1	2	1	3	0	5	3	5	3	1	2	1	0	1	2	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:158614117C>T	ENST00000368147.4	-	30	4444	c.4264G>A	c.(4264-4266)Gac>Aac	p.D1422N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1422					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTTTTGTCATCTGACCTC	0.443																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4264-4266)Gac>Aac		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							106	105	105					1																	158614117		1947	4140	6087	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614117C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4264G>A	1.37:g.158614117C>T	ENSP00000357129:p.Asp1422Asn						p.D1422N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4463	-	all_hematologic(112;0.0378)		1422					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4264G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031927	0.75504	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38077	1.16;1.16	5.33	4.42	0.53409	.	0.303702	0.18449	N	0.140894	T	0.44540	0.1298	M	0.76433	2.335	0.44789	D	0.997796	D	0.52996	0.957	D	0.64410	0.925	T	0.43829	-0.9367	10	0.46703	T	0.11	.	9.3594	0.38186	0.0:0.8366:0.0:0.1634	.	1422	P02549	SPTA1_HUMAN	N	1422	ENSP00000357130:D1422N;ENSP00000357129:D1422N	ENSP00000357129:D1422N	D	-	1	0	SPTA1	156880741	1.000000	0.71417	0.193000	0.23327	0.722000	0.41435	4.382000	0.59594	1.485000	0.48380	0.591000	0.81541	GAC		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158614117	C	T	158614117	3	4	198	1	0	0	0	0	1	0	0	0	15115	826	29	3	3087	3	SPTA1	1	158614117	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	131922894	158614117	90636504	3	13947											
CNTN2	6900	broad.mit.edu	37	chr1	205033757	205033758	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtccttgccacagagtgacTgtaactccagatggcacctt																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:205033757_205033758delTG	ENST00000331830.4	+	12	1682_1683	c.1398_1399delTG	c.(1396-1401)actgtafs	p.V467fs	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	467	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGAGTGACTGTAACTCCAGA	0.525																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1396-1401)actgtafs		Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.																																				SO:0001589	frameshift_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033757_205033758delTG	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1398_1399delTG	1.37:g.205033757_205033758delTG	ENSP00000330633:p.Val467fs					CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.3_Frame_Shift_Del_p.T254fs	p.T466fs	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		11	1667_1668	+	all_cancers(21;0.144)|Breast(84;0.0437)		466			Ig-like C2-type 5.		P78432|Q5T054	Frame_Shift_Del	DEL	ENST00000331830.4	37	c.1398_1399delTG	CCDS1449.1																																																																																				0.525	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		-	205033758	TG	-	205033757	7	5	198	1	0	1	0	1	0	0	0	0	3641	1567	55	0	1440	0	CNTN2	1	205033757	Frame_Shift_Del	DEL	TG	TCGA-27-2528-01A-01D-1494-08	46419640	205033757	44216864	4	13948											
OBSCN	84033	broad.mit.edu	37	chr1	228468436	228468436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgtgagccctgaagaCgccggcctgtacacctgcca	9	6	11	15	3	0	4	0	3	0	1	0	4	0	4	5	1	3	1	5	1	2	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:228468436C>T	ENST00000422127.1	+	30	8180	c.8136C>T	c.(8134-8136)gaC>gaT	p.D2712D	OBSCN_ENST00000284548.11_Silent_p.D2712D|OBSCN_ENST00000359599.6_Silent_p.D1559D|OBSCN_ENST00000570156.2_Silent_p.D3141D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2712	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTGAAGACGCCGGCCTGT	0.692																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8134-8136)gaC>gaT		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							23	29	27					1																	228468436		2081	4202	6283	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468436C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8136C>T	1.37:g.228468436C>T						OBSCN_uc001hsn.3_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_5'UTR	p.D2712D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			29	8180	+		Prostate(94;0.0405)	2712			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8136C>T	CCDS58065.1																																																																																				0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228468436	C	T	228468436	2	4	198	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228468436	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	23434679	228468436	20782185	5	13949											
SLC4A5	57835	broad.mit.edu	37	chr2	74479508	74479508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgctagggagaacaCagatttcctggaagagaagg	13	7	13	8	0	1	3	0	0	1	3	2	6	2	4	1	3	3	2	1	3	4	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:74479508C>T	ENST00000377634.4	-	16	1675	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	SLC4A5_ENST00000358683.4_Missense_Mutation_p.V362M|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.V426M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V426M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V426M|SLC4A5_ENST00000394019.2_Missense_Mutation_p.V426M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V426M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V362M|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGAGAACACAGATTTCCTG	0.552																																						uc002sko.1																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1276-1278)Gtg>Atg		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.							43	41	41					2																	74479508		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74479508C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1276G>A	2.37:g.74479508C>T	ENSP00000366861:p.Val426Met					SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	p.V426M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			10	1278	-			426						Missense_Mutation	SNP	ENST00000377634.4	37	c.1276G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387237	0.25031	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.29	4.41	0.53225	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.956275	0.08691	N	0.908007	T	0.67382	0.2887	N	0.17474	0.49	0.45648	D	0.998574	B;P;B;P;B	0.51791	0.018;0.948;0.018;0.864;0.196	B;B;B;B;B	0.41036	0.053;0.346;0.053;0.232;0.022	T	0.58645	-0.7600	10	0.39692	T	0.17	.	8.155	0.31162	0.0:0.8193:0.0:0.1807	.	426;426;362;426;426	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	426;426;426;362;426;362;426;426;426;426	ENSP00000377587:V426M;ENSP00000251768:V426M;ENSP00000352461:V362M;ENSP00000395804:V426M;ENSP00000351513:V362M;ENSP00000350475:V426M;ENSP00000366859:V426M;ENSP00000366861:V426M;ENSP00000405678:V426M	ENSP00000251768:V426M	V	-	1	0	SLC4A5	74333016	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	5.630000	0.67805	1.243000	0.43853	0.442000	0.29010	GTG		0.552	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			T	74479508	C	T	74479508	3	4	198	1	0	0	0	0	1	0	0	0	14657	478	17	3	2201	3	SLC4A5	2	74479508	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		74479508	168719865	6	13950											
UGGT1	56886	broad.mit.edu	37	chr2	128935427	128935427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagaagaaggcagatatgGtgaacgaagacttgctgagt	14	9	13	5	1	1	6	1	2	0	4	1	7	1	6	0	2	2	2	0	2	5	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:128935427G>A	ENST00000259253.6	+	33	3693	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	UGGT1_ENST00000375990.3_Missense_Mutation_p.V1192M	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1216					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGCAGATATGGTGAACGAAGA	0.398																																						uc002tps.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3646-3648)Gtg>Atg		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.							307	277	287					2																	128935427		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128935427G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3646G>A	2.37:g.128935427G>A	ENSP00000259253:p.Val1216Met					UGGT1_uc002tpr.3_Missense_Mutation_p.V1192M	p.V1216M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			32	3824	+			1216					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.3646G>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035201	0.35893	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08008	3.14;3.14	5.82	3.74	0.42951	.	0.487974	0.23261	N	0.050126	T	0.01905	0.0060	N	0.00823	-1.155	0.29021	N	0.886308	B	0.06786	0.001	B	0.06405	0.002	T	0.37174	-0.9717	9	.	.	.	.	1.9084	0.03282	0.2574:0.0:0.4361:0.3065	.	1216	Q9NYU2	UGGG1_HUMAN	M	1192;1216	ENSP00000365158:V1192M;ENSP00000259253:V1216M	.	V	+	1	0	UGGT1	128651897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.301000	0.51842	1.416000	0.47057	0.655000	0.94253	GTG		0.398	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128935427	G	A	128935427	3	1	198	1	0	0	0	0	1	0	0	0	16938	1261	44	3	3776	3	UGGT1	2	128935427	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	54455919	128935427	114263946	7	13951											
SP110	3431	broad.mit.edu	37	chr2	231067312	231067312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccctctgatctcgactttCgggcacattcagttctcgcc	6	13	7	15	3	4	1	1	1	3	0	7	2	4	1	2	1	1	2	2	1	1	4	rs144163010		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:231067312C>T	ENST00000358662.4	-	9	1109	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SP110_ENST00000486146.2_5'Flank|SP110_ENST00000392048.3_Missense_Mutation_p.R342Q|SP110_ENST00000338556.3_Intron|SP110_ENST00000258381.6_Missense_Mutation_p.R344Q|SP110_ENST00000540870.1_Missense_Mutation_p.R350Q|SP110_ENST00000258382.5_Missense_Mutation_p.R344Q	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	344					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCGACTTTCGGGCACATTC	0.478																																						uc002vqg.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1030-1032)cGa>cAa		Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	157	128	138		1049,1031,1031,1031	-2	0	2	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign	350/556,344/690,344/550,344/714	231067312	2,13004	2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231067312C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1031G>A	2.37:g.231067312C>T	ENSP00000351488:p.Arg344Gln					SP110_uc002vqh.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.4_Missense_Mutation_p.R344Q|SP110_uc010fxk.3_Missense_Mutation_p.R342Q|SP110_uc021vxx.1_Missense_Mutation_p.R350Q|SP110_uc010fxj.3_Intron	p.R344Q	NM_080424	NP_536349	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	8	1271	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	344					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1031G>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380918	0.05000	2.27E-4	1.16E-4	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.62941	1.33;1.13;-0.01;0.02;0.11	3.63	-1.99	0.07457	.	.	.	.	.	T	0.23210	0.0561	N	0.01874	-0.695	0.21220	N	0.999755	B;B;B;B	0.17667	0.005;0.005;0.014;0.023	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.21042	-1.0257	9	0.07175	T	0.84	.	1.3848	0.02238	0.1768:0.1098:0.3638:0.3496	.	342;350;344;344	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	Q	344;344;342;344;350	ENSP00000258381:R344Q;ENSP00000351488:R344Q;ENSP00000375902:R342Q;ENSP00000258382:R344Q;ENSP00000439558:R350Q	ENSP00000258381:R344Q	R	-	2	0	SP110	230775556	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.325000	0.02687	-0.337000	0.08426	-1.339000	0.01253	CGA		0.478	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		T	231067312	C	T	231067312	3	4	198	1	0	0	0	0	1	0	0	0	14961	884	31	2	1218	2	SP110	2	231067312	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	102131885	231067312	12132061	8	13952											
KIF1A	547	broad.mit.edu	37	chr2	241657468	241657468	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcaggcggccctaccGtatggtcccggccaggaggg	5	5	16	15	3	0	0	0	0	0	0	1	1	1	1	5	6	2	2	5	6	2	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:241657468G>A	ENST00000320389.7	-	46	5187	c.5029C>T	c.(5029-5031)Cgg>Tgg	p.R1677W	KIF1A_ENST00000498729.2_Splice_Site_p.R1778W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1677					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGCCCTACCGTATGGTCCCG	0.662																																						uc010fzk.3																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.e48+1		Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.							21	26	24					2																	241657468		2065	4195	6260	SO:0001630	splice_region_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241657468G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5030+1C>T	2.37:g.241657468G>A						KIF1A_uc002vzy.3_Splice_Site_p.R1677_splice|KIF1A_uc002vzw.3_Splice_Site_p.R338_splice|KIF1A_uc002vzx.3_Splice_Site_p.R404_splice	p.R1778_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	48	5580	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1677					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5333_splice	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188834	0.57909	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.76709	-0.94;-1.04	4.3	3.31	0.37934	.	0.053640	0.64402	U	0.000001	D	0.85613	0.5737	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.963;0.995	D	0.86827	0.2008	10	0.87932	D	0	.	10.7989	0.46476	0.0:0.0:0.7071:0.2929	.	1778;1677	F5H045;Q12756	.;KIF1A_HUMAN	W	1677;1778;1786	ENSP00000322791:R1677W;ENSP00000438388:R1778W	ENSP00000322791:R1677W	R	-	1	2	KIF1A	241306141	1.000000	0.71417	0.900000	0.35374	0.495000	0.33615	2.861000	0.48380	1.949000	0.56562	0.563000	0.77884	CGG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	Missense_Mutation	A	241657468	G	A	241657468	5	1	198	1	0	0	0	0	0	0	1	0	8283	1159	40	1	51	1	KIF1A	2	241657468	Splice_Site	SNP	G	TCGA-27-2528-01A-01D-1494-08	10590156	241657468	1541905	9	13953											
WDR48	57599	broad.mit.edu	37	chr3	39126186	39126186	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgctgcctgggtttcTgcaaaagatgctggtttcag	6	16	12	7	0	2	1	1	0	1	1	2	1	2	1	1	2	4	6	1	2	2	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr3:39126186T>G	ENST00000302313.5	+	13	1360	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	WDR48_ENST00000396258.3_Silent_p.S362S|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Silent_p.S169S	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	444					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGGGTTTCTGCAAAAGATG	0.363																																						uc003cit.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1330-1332)tcT>tcG		Homo sapiens WD repeat domain 48 (WDR48), mRNA.							98	96	97					3																	39126186		2203	4300	6503	SO:0001819	synonymous_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39126186T>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1332T>G	3.37:g.39126186T>G						WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.3_Non-coding_Transcript	p.S444S	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	12	1342	+			444					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Silent	SNP	ENST00000302313.5	37	c.1332T>G	CCDS33738.1																																																																																				0.363	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		G	39126186	T	G	39126186	2	3	198	1	0	0	0	0	0	0	0	1	17298	1567	55	5		5	WDR48	3	39126186	Silent	SNP	T	TCGA-27-2528-01A-01D-1494-08		39126186	158896244	10	13954											
FBXL5	26234	broad.mit.edu	37	chr4	15626935	15626935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaaacagaagtacacgtCcagtctcttgatcagatttt	13	12	8	8	1	2	4	1	2	1	3	4	5	3	4	1	0	2	1	1	0	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:15626935C>A	ENST00000341285.3	-	9	1914	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	FBXL5_ENST00000412094.2_Missense_Mutation_p.G580V|FBXL5_ENST00000382358.4_Missense_Mutation_p.G471V	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	597					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGTACACGTCCAGTCTCTTG	0.393																																						uc003goc.2																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1789-1791)gGa>gTa		Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.							93	84	87					4																	15626935		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15626935C>A	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1790G>T	4.37:g.15626935C>A	ENSP00000344866:p.Gly597Val					FBXL5_uc010idw.2_Missense_Mutation_p.G510V|FBXL5_uc003gob.2_Missense_Mutation_p.G459V|FBXL5_uc010idx.2_Missense_Mutation_p.G596V|FBXL5_uc003god.2_Missense_Mutation_p.G580V|FBXL5_uc010idy.2_Missense_Mutation_p.G597V	p.G597V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			8	1915	-			597					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1790G>T	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.119705|2.119705	0.37436|0.37436	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.16196|.	2.36;2.36;2.36|.	5.72|5.72	4.86|4.86	0.63082|0.63082	.|.	0.444231|.	0.24557|.	N|.	0.037518|.	T|T	0.51483|0.51483	0.1677|0.1677	N|N	0.24115|0.24115	0.695|0.695	0.51233|0.51233	D|D	0.999911|0.999911	P;P|.	0.41978|.	0.767;0.657|.	B;B|.	0.44044|.	0.439;0.255|.	T|T	0.46871|0.46871	-0.9160|-0.9160	10|5	0.56958|.	D|.	0.05|.	-13.6551|-13.6551	15.051|15.051	0.71867|0.71867	0.0:0.564:0.436:0.0|0.0:0.564:0.436:0.0	.|.	580;597|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	V|C	597;580;471|517	ENSP00000344866:G597V;ENSP00000408679:G580V;ENSP00000371795:G471V|.	ENSP00000344866:G597V|.	G|W	-|-	2|3	0|0	FBXL5|FBXL5	15236033|15236033	0.914000|0.914000	0.31030|0.31030	0.645000|0.645000	0.29479|0.29479	0.983000|0.983000	0.72400|0.72400	1.566000|1.566000	0.36396|0.36396	1.379000|1.379000	0.46325|0.46325	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.393	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			A	15626935	C	A	15626935	3	1	198	1	0	0	0	0	1	0	0	0	5722	855	30	5	297	5	FBXL5	4	15626935	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		15626935	175527341	11	13955											
NIPAL1	152519	broad.mit.edu	37	chr4	48037778	48037778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagtttacaaacatccGctggtctttgttttgctggc	8	14	9	10	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	3	5	rs200487407		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:48037778G>A	ENST00000295461.5	+	6	888	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428																																						uc003gxw.3																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(820-822)ccG>ccA		Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.							100	90	94					4																	48037778		2203	4300	6503	SO:0001819	synonymous_variant	152519					integral to membrane		g.chr4:48037778G>A	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.822G>A	4.37:g.48037778G>A							p.P274P	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			5	888	+			274					B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	c.822G>A	CCDS3479.1																																																																																				0.428	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		A	48037778	G	A	48037778	2	1	198	1	0	0	0	0	0	0	0	1	10424	1074	38	1		1	NIPAL1	4	48037778	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08	32410843	48037778	143116498	12	13956											
BMP3	651	broad.mit.edu	37	chr4	81967723	81967723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtagactttgcagatattgGctggagtgaatggattatct	10	14	13	4	0	1	3	0	1	1	2	1	5	1	5	0	4	1	3	0	4	4	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:81967723G>T	ENST00000282701.2	+	2	1468	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	383					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCAGATATTGGCTGGAGTGAA	0.478																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1147-1149)gGc>gTc		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.							145	144	145					4																	81967723		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967723G>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1148G>T	4.37:g.81967723G>T	ENSP00000282701:p.Gly383Val						p.G383V	NM_001201	NP_001192	P12645	BMP3_HUMAN			1	1468	+			383					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.1148G>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511801	0.64522	.	.	ENSG00000152785	ENST00000282701	D	0.90504	-2.68	5.16	4.3	0.51218	Transforming growth factor-beta, C-terminal (3);	0.045054	0.85682	N	0.000000	D	0.97225	0.9093	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	10	0.87932	D	0	.	14.8541	0.70323	0.0:0.0:0.8547:0.1453	.	383	P12645	BMP3_HUMAN	V	383	ENSP00000282701:G383V	ENSP00000282701:G383V	G	+	2	0	BMP3	82186747	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.775000	0.98995	1.265000	0.44215	0.655000	0.94253	GGC		0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			T	81967723	G	T	81967723	3	4	198	1	0	0	0	0	1	0	0	0	1461	1203	42	5	1154	5	BMP3	4	81967723	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	33929945	81967723	109186553	13	13957											
NDST4	64579	broad.mit.edu	37	chr4	115998108	115998108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtagagaaaataggcagAaatgacaatgctcaccaagc	19	5	10	7	0	1	4	1	1	0	3	1	5	1	4	1	1	2	3	1	1	7	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:115998108A>G	ENST00000264363.2	-	2	763	c.85T>C	c.(85-87)Tct>Cct	p.S29P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	29					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGGCAGAAATGACAATG	0.358																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(85-87)Tct>Cct		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							43	47	45					4																	115998108		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998108A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.85T>C	4.37:g.115998108A>G	ENSP00000264363:p.Ser29Pro					NDST4_uc010imw.3_Intron	p.S29P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	1	764	-		Ovarian(17;0.156)	29					Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.85T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916214	0.73098	.	.	ENSG00000138653	ENST00000264363	T	0.38887	1.11	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.74546	2.27	0.58432	D	0.999998	D	0.69078	0.997	D	0.71656	0.974	T	0.66866	-0.5815	10	0.52906	T	0.07	.	14.9197	0.70829	1.0:0.0:0.0:0.0	.	29	Q9H3R1	NDST4_HUMAN	P	29	ENSP00000264363:S29P	ENSP00000264363:S29P	S	-	1	0	NDST4	116217557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.369000	0.90118	1.925000	0.55765	0.338000	0.21704	TCT		0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		G	115998108	A	G	115998108	3	3	198	1	0	0	0	0	1	0	0	0	10258	246	9	4	2585	4	NDST4	4	115998108	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	34030385	115998108	75156168	14	13958											
RAI14	26064	broad.mit.edu	37	chr5	34811182	34811182	+	Frame_Shift_Del	DEL	G	G	-																															gagatctgtcactttctcctGgatcatggagcagatgtcaa																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:34811182delG	ENST00000265109.3	+	8	803	c.516delG	c.(514-516)ctgfs	p.L172fs	RAI14_ENST00000506376.1_Frame_Shift_Del_p.L164fs|RAI14_ENST00000503673.1_Frame_Shift_Del_p.L172fs|RAI14_ENST00000512629.1_Frame_Shift_Del_p.L172fs|RAI14_ENST00000428746.2_Frame_Shift_Del_p.L172fs|RAI14_ENST00000515799.1_Frame_Shift_Del_p.L175fs|RAI14_ENST00000397449.1_Frame_Shift_Del_p.L165fs	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	172						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACTTTCTCCTGGATCATGGAG	0.418																																						uc003jis.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(523-525)ctgfs		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							237	227	230					5																	34811182		2203	4300	6503	SO:0001589	frameshift_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811182delG	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.516delG	5.37:g.34811182delG	ENSP00000265109:p.Leu172fs					RAI14_uc003jir.3_Frame_Shift_Del_p.L172fs|RAI14_uc010iur.3_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.2_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jit.3_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.2_Frame_Shift_Del_p.L164fs	p.L175fs	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN			9	1064	+	all_lung(31;0.000191)		172					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Frame_Shift_Del	DEL	ENST00000265109.3	37	c.525delG	CCDS34142.1																																																																																				0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		-	34811182	G	-	34811182	7	5	198	1	0	1	0	1	0	0	0	0	13008	1335	47	0	607	0	RAI14	5	34811182	Frame_Shift_Del	DEL	G	TCGA-27-2528-01A-01D-1494-08		34811182	146104078	15	13959											
UGT3A2	167127	broad.mit.edu	37	chr5	36035914	36035914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagaaacacaaaaacgtcGagcaggtactgctcatgcca	16	5	9	11	2	1	1	1	0	0	1	2	2	1	1	1	1	7	4	1	1	4	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:36035914G>A	ENST00000282507.3	-	7	1559	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	UGT3A2_ENST00000545528.1_Silent_p.L184L|UGT3A2_ENST00000513300.1_Silent_p.L452L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	486				L -> F (in Ref. 1; AAQ88782). {ECO:0000305}.	cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAAACGTCGAGCAGGTACT	0.612																																						uc003jjz.2																			0		p.L486I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1456-1458)ctC>ctT		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.							62	55	57					5																	36035914		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035914G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1458C>T	5.37:g.36035914G>A						UGT3A2_uc011cos.2_Silent_p.L452L|UGT3A2_uc011cot.2_Silent_p.L184L	p.L486L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1590	-	all_lung(31;0.000179)		486	L -> F (in Ref. 1; AAQ88782).				B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.1458C>T	CCDS3914.1																																																																																				0.612	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		A	36035914	G	A	36035914	2	1	198	1	0	0	0	0	0	0	0	1	16961	1045	37	2		2	UGT3A2	5	36035914	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08	1224732	36035914	144879346	16	13960											
SLCO6A1	133482	broad.mit.edu	37	chr5	101816115	101816115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaatcgccaatgctgaCatctataagaccaaacacca	17	7	5	12	1	1	3	0	2	1	1	2	3	1	3	3	0	2	1	3	0	6	2	rs111320089	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:101816115C>T	ENST00000506729.1	-	2	553	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V128I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V128I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V128I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V128I|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAATGCTGACATCTATAAGA	0.328													C|||	12	0.00239617	0.0091	0	5008	,	,		17491	0		0	False		,,,				2504	0					uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(382-384)Gtc>Atc		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.		C	ILE/VAL	34,4370	36.0+/-67.5	0,34,2168	95	95	95		382	-4.6	0	5	dbSNP_132	95	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLCO6A1	NM_173488.3	29	0,35,6466	TT,TC,CC		0.0116,0.772,0.2692	benign	128/720	101816115	35,12967	2202	4299	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101816115C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.382G>A	5.37:g.101816115C>T	ENSP00000421339:p.Val128Ile					SLCO6A1_uc003kno.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.3_Missense_Mutation_p.V128I	p.V128I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	554	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	128					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.382G>A	CCDS34206.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	4.005	-0.001733	0.07819	0.00772	1.16E-4	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.56	-4.64	0.03349	Major facilitator superfamily domain, general substrate transporter (1);	1.200210	0.06227	N	0.688011	T	0.21921	0.0528	L	0.35542	1.07	0.09310	N	1	P;B;P	0.40909	0.728;0.261;0.732	B;B;P	0.46510	0.39;0.113;0.519	T	0.17592	-1.0364	10	0.02654	T	1	.	5.3367	0.15961	0.0848:0.5232:0.1667:0.2253	.	128;128;128	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	128	ENSP00000421339:V128I;ENSP00000369135:V128I;ENSP00000373671:V128I;ENSP00000421990:V128I;ENSP00000369138:V128I	ENSP00000369135:V128I	V	-	1	0	SLCO6A1	101844014	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.068000	0.01382	-0.687000	0.05162	-0.211000	0.12701	GTC		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		T	101816115	C	T	101816115	3	4	198	1	0	0	0	0	1	0	0	0	14732	478	17	3	1825	3	SLCO6A1	5	101816115	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	65780201	101816115	79099145	17	13961											
PCDHB5	26167	broad.mit.edu	37	chr5	140516912	140516912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcggccaagcacaggct	8	3	16	14	5	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	1	0	rs551194665		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1894-1896)cgC>cgT		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							31	34	33					5																	140516912		1994	3940	5934	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516912C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1896C>T	5.37:g.140516912C>T							p.R632R	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2113	+			632			Cadherin 6.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1896C>T	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140516912	C	T	140516912	2	4	198	1	0	0	0	0	0	0	0	1	11545	755	27	1		1	PCDHB5	5	140516912	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	38700797	140516912	40398348	18	13962											
ABLIM3	22885	broad.mit.edu	37	chr5	148586637	148586637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctggacaagcagtggcAcgtcagctgcttcaagtgcc	8	8	13	12	1	3	0	2	0	1	0	3	1	3	1	1	3	4	5	1	3	2	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:148586637A>G	ENST00000506113.1	+	5	997	c.515A>G	c.(514-516)cAc>cGc	p.H172R	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.H172R|ABLIM3_ENST00000356541.3_Missense_Mutation_p.H172R|ABLIM3_ENST00000309868.7_Missense_Mutation_p.H172R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.H172R|ABLIM3_ENST00000508983.1_Missense_Mutation_p.H172R			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	172	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGTGGCACGTCAGCTGC	0.612																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(514-516)cAc>cGc		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							101	86	91					5																	148586637		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148586637A>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.515A>G	5.37:g.148586637A>G	ENSP00000425394:p.His172Arg					ABLIM3_uc003lpz.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqa.1_Missense_Mutation_p.H180R|ABLIM3_uc003lqb.3_Missense_Mutation_p.H172R|ABLIM3_uc003lqc.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqd.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqe.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqf.3_Missense_Mutation_p.H172R	p.H172R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	766	+			172			LIM zinc-binding 3.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.515A>G	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588928	0.86851	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	0.987;0.994;1.0	D;D;D	0.91635	0.976;0.983;0.999	D	0.99215	1.0877	10	0.87932	D	0	.	15.2787	0.73764	1.0:0.0:0.0:0.0	.	172;172;172	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	R	172	ENSP00000315841:H172R;ENSP00000348938:H172R;ENSP00000310309:H172R;ENSP00000425394:H172R;ENSP00000421183:H172R;ENSP00000420855:H172R	ENSP00000310309:H172R	H	+	2	0	ABLIM3	148566830	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.207000	0.95064	2.014000	0.59158	0.397000	0.26171	CAC		0.612	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		G	148586637	A	G	148586637	3	3	198	1	0	0	0	0	1	0	0	0	96	159	6	4	533	4	ABLIM3	5	148586637	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	8069725	148586637	32328623	19	13963											
GABRA1	2554	broad.mit.edu	37	chr5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacatgaccatgcccaaCaaactcctgcggatcacaga	15	5	6	15	1	1	2	1	1	0	1	2	3	2	3	3	1	5	0	3	1	3	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:161300296C>A	ENST00000428797.2	+	6	784	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_ENST00000393943.4_Missense_Mutation_p.N143K|GABRA1_ENST00000437025.2_Missense_Mutation_p.N143K|GABRA1_ENST00000023897.6_Missense_Mutation_p.N143K|GABRA1_ENST00000420560.1_Missense_Mutation_p.N143K|GABRA1_ENST00000444819.1_Missense_Mutation_p.N143K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	143					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGCCCAACAAACTCCTGC	0.473																																						uc010jiw.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(427-429)aaC>aaA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						84	72	76					5																	161300296		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300296C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.429C>A	5.37:g.161300296C>A	ENSP00000393097:p.Asn143Lys					GABRA1_uc010jix.3_Missense_Mutation_p.N143K|GABRA1_uc010jiy.3_Missense_Mutation_p.N143K|GABRA1_uc003lyx.4_Missense_Mutation_p.N143K|GABRA1_uc010jiz.3_Missense_Mutation_p.N143K|GABRA1_uc010jja.3_Missense_Mutation_p.N143K|GABRA1_uc010jjb.3_Missense_Mutation_p.N143K	p.N143K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	5	897	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	143					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.429C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809358	0.70797	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.85	1.07	0.20283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.045450	0.85682	D	0.000000	D	0.84911	0.5577	H	0.95187	3.635	0.58432	D	0.999999	B	0.27229	0.172	B	0.31614	0.133	T	0.82121	-0.0614	10	0.87932	D	0	.	10.0361	0.42129	0.0:0.5643:0.0:0.4357	.	143	P14867	GBRA1_HUMAN	K	143	ENSP00000023897:N143K;ENSP00000393097:N143K;ENSP00000377517:N143K;ENSP00000415441:N143K;ENSP00000408041:N143K;ENSP00000414232:N143K	ENSP00000023897:N143K	N	+	3	2	GABRA1	161232874	0.982000	0.34865	0.997000	0.53966	0.984000	0.73092	0.280000	0.18790	0.108000	0.17862	-0.224000	0.12420	AAC		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161300296	C	A	161300296	3	1	198	1	0	0	0	0	1	0	0	0	6160	477	17	5	443	5	GABRA1	5	161300296	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	12713659	161300296	19614964	20	13964											
RARS	5917	broad.mit.edu	37	chr5	167919770	167919770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatatccagatttggAaaatcctcctctgctagtga	10	12	9	10	0	1	2	0	1	1	1	4	3	4	3	3	2	2	3	3	2	4	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:167919770A>G	ENST00000231572.3	+	3	341	c.287A>G	c.(286-288)gAa>gGa	p.E96G	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	96					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCAGATTTGGAAAATCCTCCT	0.418																																						uc003lzx.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(286-288)gAa>gGa		Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.							139	141	140					5																	167919770		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167919770A>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.287A>G	5.37:g.167919770A>G	ENSP00000231572:p.Glu96Gly					RARS_uc011deo.2_5'UTR	p.E96G	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	2	328	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	96					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.287A>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182155	0.57800	.	.	ENSG00000113643	ENST00000231572	T	0.73258	-0.73	5.66	4.49	0.54785	Arginyl tRNA synthetase, class Ia, N-terminal (3);	0.163229	0.52532	D	0.000069	T	0.60996	0.2312	L	0.42008	1.315	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.56926	-0.7898	10	0.27785	T	0.31	-11.6883	11.7787	0.52001	0.9304:0.0:0.0696:0.0	.	96	P54136	SYRC_HUMAN	G	96	ENSP00000231572:E96G	ENSP00000231572:E96G	E	+	2	0	RARS	167852348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.703000	0.68340	2.163000	0.67991	0.460000	0.39030	GAA		0.418	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		G	167919770	A	G	167919770	3	3	198	1	0	0	0	0	1	0	0	0	13058	246	9	4	297	4	RARS	5	167919770	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	6619474	167919770	12995490	21	13965											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184206	26184207	+	In_Frame_Ins	INS	-	-	ATC																															tctcctctaaagccatggggINSatcatgaattcctttgtcaa																								rs538164578|rs185241633		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:26184206_26184207insATC	ENST00000356530.3	+	1	249_250	c.183_184insATC	c.(184-186)atc>ATCatc	p.62_62I>II		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	62					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						AAGCCATGGGGATCATGAATTC	0.574																																						uc003ngt.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(181-186)insATC		Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.																																				SO:0001652	inframe_insertion	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184206_26184207insATC	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.184_186dupATC	6.37:g.26184207_26184209dupATC	ENSP00000348924:p.Ile62dup						p.62_63insI	NM_003523	NP_003517	P62807	H2B1C_HUMAN			0	183_184	+			62					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Ins	INS	ENST00000356530.3	37	c.183_184insATC	CCDS4588.1																																																																																				0.574	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		ATC	26184207	-	ATC	26184206	7	5	198	1	0	1	1	0	0	0	0	0	7144	1161	41	0	185	0	HIST1H2BE	6	26184206	In_Frame_Ins	INS	-	TCGA-27-2528-01A-01D-1494-08		26184206	144930861	22	13966											
SLC35D3	340146	broad.mit.edu	37	chr6	137245675	137245675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagcaggcaagaggtcagGggcagcccccgaggagtccc	10	2	17	12	1	1	2	1	0	0	2	2	5	2	3	3	5	2	3	3	5	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:137245675G>T	ENST00000331858.4	+	2	1257	c.1092G>T	c.(1090-1092)agG>agT	p.R364S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	364					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AAGAGGTCAGGGGCAGCCCCC	0.637																																						uc003qhe.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(1090-1092)agG>agT		Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.							49	54	52					6																	137245675		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245675G>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1092G>T	6.37:g.137245675G>T	ENSP00000333591:p.Arg364Ser						p.R364S	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	1	1257	+	Colorectal(23;0.24)		364					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.1092G>T	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	4.166	0.029296	0.08054	.	.	ENSG00000182747	ENST00000331858	T	0.54675	0.56	6.06	0.37	0.16160	.	0.576665	0.17921	N	0.157497	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.21381	-1.0247	10	0.33940	T	0.23	-18.7996	2.3819	0.04357	0.3013:0.123:0.4506:0.1251	.	364	Q5M8T2	S35D3_HUMAN	S	364	ENSP00000333591:R364S	ENSP00000333591:R364S	R	+	3	2	SLC35D3	137287368	0.008000	0.16893	0.016000	0.15963	0.047000	0.14425	0.172000	0.16704	0.119000	0.18210	0.655000	0.94253	AGG		0.637	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		T	137245675	G	T	137245675	3	4	198	1	0	0	0	0	1	0	0	0	14583	1223	43	5	1098	5	SLC35D3	6	137245675	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	111061469	137245675	33869392	23	13967											
SYNE1	23345	broad.mit.edu	37	chr6	152751311	152751311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattttaattggaacagcaAgtttatcttcaaattcagac	15	15	5	6	0	3	1	2	0	1	1	3	2	3	2	0	1	2	2	0	1	6	8			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:152751311A>T	ENST00000367255.5	-	36	5325	c.4724T>A	c.(4723-4725)cTt>cAt	p.L1575H	SYNE1_ENST00000423061.1_Missense_Mutation_p.L1582H|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1582H|SYNE1_ENST00000367253.4_Missense_Mutation_p.L1575H|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1645H|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1575H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1575					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAACAGCAAGTTTATCTTC	0.303										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4723-4725)cTt>cAt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							57	53	54					6																	152751311		2201	4291	6492	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152751311A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4724T>A	6.37:g.152751311A>T	ENSP00000356224:p.Leu1575His	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.L1582H|SYNE1_uc003qou.4_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.3_Missense_Mutation_p.L870H	p.L1575H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4947	-		Ovarian(120;0.0955)	1575					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4724T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457145	0.63401	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.97	5.97	0.96955	.	0.000000	0.49305	D	0.000154	T	0.73606	0.3608	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.982;0.999;0.982;0.992	T	0.77284	-0.2645	10	0.87932	D	0	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	1558;1575;1575;1575;1582	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	H	1575;1582;1575;1582;1645;1575	ENSP00000356224:L1575H;ENSP00000396024:L1582H;ENSP00000265368:L1575H;ENSP00000390975:L1582H;ENSP00000341887:L1645H;ENSP00000356222:L1575H	ENSP00000265368:L1575H	L	-	2	0	SYNE1	152793004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.285000	0.76669	0.528000	0.53228	CTT		0.303	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152751311	A	T	152751311	3	4	198	1	0	0	0	0	1	0	0	0	15442	72	3	5	22186	5	SYNE1	6	152751311	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	15505636	152751311	18363756	24	13968											
C7orf26	79034	broad.mit.edu	37	chr7	6630085	6630085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgttccaggtgcccaaGgagcgcagcgcgcagcccaa	8	6	13	14	4	0	0	0	0	0	0	2	1	1	1	3	2	4	3	3	2	2	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:6630085G>C	ENST00000344417.5	+	1	438	c.171G>C	c.(169-171)aaG>aaC	p.K57N	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Missense_Mutation_p.K57N	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	57										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGGTGCCCAAGGAGCGCAGCG	0.701																																						uc003sqo.1																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(169-171)aaG>aaC		Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.							15	15	15					7																	6630085		2197	4294	6491	SO:0001583	missense	79034							g.chr7:6630085G>C	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.171G>C	7.37:g.6630085G>C	ENSP00000340220:p.Lys57Asn					DQ579268_uc021zzi.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N	p.K57N	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	0	171	+		Ovarian(82;0.232)	57					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.171G>C	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759787	0.69763	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.45668	0.89;0.89	4.72	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.66939	2.045	0.51012	D	0.999909	D;D	0.61697	0.965;0.99	P;P	0.58721	0.767;0.844	T	0.51028	-0.8757	10	0.46703	T	0.11	-23.583	6.5709	0.22539	0.199:0.0:0.801:0.0	.	57;57	Q96N11-2;Q96N11	.;CG026_HUMAN	N	57	ENSP00000340220:K57N;ENSP00000351974:K57N	ENSP00000340220:K57N	K	+	3	2	C7orf26	6596610	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.199000	0.42715	2.354000	0.79902	0.637000	0.83480	AAG		0.701	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		C	6630085	G	C	6630085	3	2	198	1	0	0	0	0	1	0	0	0	2381	991	35	5	173	5	C7orf26	7	6630085	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		6630085	152508578	25	13969											
DNAH11	8701	broad.mit.edu	37	chr7	21603893	21603893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggaattcccacagacaCgcatattaatcgctccatta	14	9	6	12	3	0	2	0	0	0	2	3	3	2	3	2	1	0	2	2	1	4	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:21603893C>T	ENST00000409508.3	+	6	1103	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R358C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	358	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCACAGACACGCATATTAAT	0.443									Kartagener syndrome																													uc003svc.3																			0		p.R358R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1072-1074)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							121	114	116					7																	21603893		1844	4083	5927	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21603893C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1072C>T	7.37:g.21603893C>T	ENSP00000475939:p.Arg358Cys						p.R358C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			5	1103	+			358			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1072C>T		.	.	.	.	.	.	.	.	.	.	C	8.286	0.816594	0.16607	.	.	ENSG00000105877	ENST00000328843	T	0.57595	0.39	5.62	-4.41	0.03590	Dynein heavy chain, domain-1 (1);	1.500280	0.03935	N	0.285922	T	0.39733	0.1089	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24119	-1.0169	10	0.56958	D	0.05	.	1.168	0.01820	0.2967:0.2078:0.3086:0.1869	.	358	Q96DT5	DYH11_HUMAN	C	358	ENSP00000330671:R358C	ENSP00000330671:R358C	R	+	1	0	DNAH11	21570418	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.491000	0.06474	-0.849000	0.04158	0.563000	0.77884	CGC		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21603893	C	T	21603893	3	4	198	1	0	0	0	0	1	0	0	0	4599	536	19	1	1094	1	DNAH11	7	21603893	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	14973808	21603893	137534770	26	13970											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.R222C(7)|p.V30_R297>G(5)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(664-666)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91	104	100					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55220274	C	T	55220274	3	4	198	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	33616381	55220274	103918389	27	13971											
SPAM1	6677	broad.mit.edu	37	chr7	123593667	123593667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatctttttcagaagctttGttaaatcaagtggagtatcc	12	15	7	7	0	3	1	2	0	1	1	4	2	4	2	1	1	1	3	1	1	5	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:123593667G>A	ENST00000439500.1	+	4	656	c.43G>A	c.(43-45)Gtt>Att	p.V15I	SPAM1_ENST00000340011.5_Missense_Mutation_p.V15I|SPAM1_ENST00000460182.1_Missense_Mutation_p.V15I|SPAM1_ENST00000402183.2_Missense_Mutation_p.V15I|SPAM1_ENST00000223028.7_Missense_Mutation_p.V15I	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	15					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGAAGCTTTGTTAAATCAAG	0.373																																						uc003vle.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(43-45)Gtt>Att		Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						85	81	83					7																	123593667		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593667G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.43G>A	7.37:g.123593667G>A	ENSP00000402123:p.Val15Ile					SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.V15I|SPAM1_uc022aks.1_Missense_Mutation_p.V15I|SPAM1_uc003vlf.4_Missense_Mutation_p.V15I|SPAM1_uc010lku.3_Missense_Mutation_p.V15I	p.V15I	NM_003117	NP_003108	P38567	HYALP_HUMAN			2	482	+			15					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.43G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665942	0.29604	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.47528	2.52;0.84;2.52;2.51;2.52;2.52	6.02	1.06	0.20224	.	0.976907	0.08402	N	0.951203	T	0.36441	0.0967	L	0.50333	1.59	0.09310	N	1	B;B	0.23377	0.084;0.084	B;B	0.14578	0.011;0.011	T	0.26467	-1.0102	10	0.30078	T	0.28	-11.3083	3.2985	0.06974	0.1421:0.2802:0.4517:0.126	.	15;15	Q8TC30;P38567	.;HYALP_HUMAN	I	15	ENSP00000386028:V15I;ENSP00000391491:V15I;ENSP00000417934:V15I;ENSP00000345849:V15I;ENSP00000402123:V15I;ENSP00000223028:V15I	ENSP00000223028:V15I	V	+	1	0	SPAM1	123380903	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.059000	0.11731	-0.082000	0.12640	0.650000	0.86243	GTT		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123593667	G	A	123593667	3	1	198	1	0	0	0	0	1	0	0	0	14986	1377	48	3	45	3	SPAM1	7	123593667	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	68373393	123593667	35544996	28	13972											
CUL1	8454	broad.mit.edu	37	chr7	148484161	148484161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgccaagaggctcgtccaCcagaacagtgcaagtgacga	12	5	11	13	3	0	3	0	1	0	2	3	4	1	3	3	1	2	2	3	1	3	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:148484161C>G	ENST00000325222.4	+	13	1707	c.1428C>G	c.(1426-1428)caC>caG	p.H476Q	CUL1_ENST00000602748.1_Missense_Mutation_p.H476Q|CUL1_ENST00000409469.1_Missense_Mutation_p.H476Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCTCGTCCACCAGAACAGTG	0.448																																						uc010lpg.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(1426-1428)caC>caG		Homo sapiens cullin 1 (CUL1), mRNA.							90	84	86					7																	148484161		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484161C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1428C>G	7.37:g.148484161C>G	ENSP00000326804:p.His476Gln					CUL1_uc003wey.3_Missense_Mutation_p.H476Q|CUL1_uc003wez.3_Missense_Mutation_p.H366Q|CUL1_uc003wfa.3_Missense_Mutation_p.H137Q	p.H476Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		12	1954	+	Melanoma(164;0.15)		476					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1428C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005614	0.19199	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.73789	-0.78;-0.78	5.57	-3.98	0.04082	Cullin, N-terminal (1);Cullin homology (3);	0.048856	0.85682	D	0.000000	T	0.51041	0.1651	N	0.05510	-0.035	0.58432	D	0.999999	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.003	T	0.07501	-1.0769	10	0.25751	T	0.34	-34.0447	17.1426	0.86758	0.0:0.6652:0.0:0.3348	.	403;476	E7EWR0;Q13616	.;CUL1_HUMAN	Q	476;476;434;403	ENSP00000387160:H476Q;ENSP00000326804:H476Q	ENSP00000326804:H476Q	H	+	3	2	CUL1	148115094	0.932000	0.31603	0.412000	0.26496	0.351000	0.29236	0.050000	0.14120	-1.177000	0.02744	-0.290000	0.09829	CAC		0.448	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		G	148484161	C	G	148484161	3	3	198	1	0	0	0	0	1	0	0	0	4054	506	18	5	1474	5	CUL1	7	148484161	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	24890494	148484161	10654502	29	13973											
ENG	2022	broad.mit.edu	37	chr9	130579436	130579436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagctcaccagacaggTcagggctgatgatgttcaag	11	7	15	8	0	3	3	3	2	0	1	3	5	3	4	1	3	1	3	1	3	1	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:130579436T>C	ENST00000373203.4	-	13	2133	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_5'UTR|ENG_ENST00000344849.3_Missense_Mutation_p.D578G	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	578					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ACCAGACAGGTCAGGGCTGAT	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1732-1734)gAc>gGc		Homo sapiens endoglin (ENG), transcript variant 1, mRNA.							128	110	116					9																	130579436		2203	4300	6503	SO:0001583	missense	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130579436T>C	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1733A>G	9.37:g.130579436T>C	ENSP00000362299:p.Asp578Gly					ENG_uc011mam.2_Missense_Mutation_p.D389G|ENG_uc004bsk.4_Missense_Mutation_p.D578G|AK057719_uc004bsl.1_Non-coding_Transcript	p.D578G	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			12	2146	-			578					Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.1733A>G	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	T	6.211	0.406999	0.11754	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.46063	0.88;1.45	3.62	-3.15	0.05233	.	0.896444	0.09680	N	0.769906	T	0.14657	0.0354	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.16778	-1.0391	10	0.35671	T	0.21	-10.9962	4.6987	0.12816	0.0:0.3504:0.1658:0.4838	.	578;578	Q5T9B9;P17813	.;EGLN_HUMAN	G	578;578;578;396	ENSP00000362299:D578G;ENSP00000341917:D578G	ENSP00000341917:D578G	D	-	2	0	ENG	129619257	0.018000	0.18449	0.094000	0.20943	0.401000	0.30781	-0.087000	0.11215	-0.588000	0.05882	0.459000	0.35465	GAC		0.572	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			C	130579436	T	C	130579436	3	2	198	1	0	0	0	0	1	0	0	0	5117	1667	58	4	281	4	ENG	9	130579436	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		130579436	10633995	30	13974											
CACNA1B	774	broad.mit.edu	37	chr9	141006952	141006952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgctggtaccaccccAtaagcgtaagtgtgagggtg	9	9	14	9	1	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:141006952A>G	ENST00000371372.1	+	40	5676	c.5531A>G	c.(5530-5532)cAt>cGt	p.H1844R	CACNA1B_ENST00000371355.4_Missense_Mutation_p.H1845R|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H1843R|CACNA1B_ENST00000277549.5_Missense_Mutation_p.H1038R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H1844R|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H1842R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1844					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTACCACCCCATAAGCGTAAG	0.577																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(5524-5526)cAt>cGt		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						74	78	77					9																	141006952		1972	4151	6123	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141006952A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5531A>G	9.37:g.141006952A>G	ENSP00000360423:p.His1844Arg					CACNA1B_uc022bqn.1_Missense_Mutation_p.H1842R|CACNA1B_uc004coi.3_Missense_Mutation_p.H1056R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.H124R	p.H1842R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	38	5670	+	all_cancers(76;0.166)		1844					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.5525A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374865	0.42105	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.14	5.14	0.70334	.	0.290350	0.38381	N	0.001711	T	0.60818	0.2298	M	0.78223	2.4	0.80722	D	1	B;B;B	0.33266	0.404;0.404;0.404	B;B;B	0.27715	0.082;0.082;0.082	T	0.61028	-0.7145	10	0.23891	T	0.37	.	15.1241	0.72469	1.0:0.0:0.0:0.0	.	1844;1843;1842	Q00975;B1AQK7;B1AQK6	CAC1B_HUMAN;.;.	R	1844;1844;1038;1842;1843;1845	ENSP00000360423:H1844R;ENSP00000277551:H1844R;ENSP00000277549:H1038R;ENSP00000360414:H1842R;ENSP00000360408:H1843R;ENSP00000360406:H1845R	ENSP00000277549:H1038R	H	+	2	0	CACNA1B	140126773	1.000000	0.71417	0.999000	0.59377	0.313000	0.28021	5.946000	0.70234	2.152000	0.67230	0.533000	0.62120	CAT		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		G	141006952	A	G	141006952	3	3	198	1	0	0	0	0	1	0	0	0	2539	217	8	4	5685	4	CACNA1B	9	141006952	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	10427516	141006952	206479	31	13975											
JMJD1C	221037	broad.mit.edu	37	chr10	64954062	64954062	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccagaaccaggtataatTtgggttggcattaaatgttt	12	15	9	5	0	0	1	0	0	0	1	0	1	0	1	2	3	2	4	2	3	6	7			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:64954062T>A	ENST00000399262.2	-	14	5936	c.5718A>T	c.(5716-5718)caA>caT	p.Q1906H	JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q1687H|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q1724H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1906					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGGTATAATTTGGGTTGGCA	0.333																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5716-5718)caA>caT		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							156	144	148					10																	64954062		1856	4110	5966	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64954062T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5718A>T	10.37:g.64954062T>A	ENSP00000382204:p.Gln1906His					JMJD1C_uc001jml.3_Missense_Mutation_p.Q1687H|JMJD1C_uc001jmm.3_Missense_Mutation_p.Q1618H|JMJD1C_uc010qiq.2_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpi.3_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q804H	p.Q1906H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			13	6018	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1906					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5718A>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.351567|4.351567	0.82132|0.82132	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000542921	.|D;T;T	.|0.87103	.|-2.21;-0.38;-0.08	5.49|5.49	-3.05|-3.05	0.05396|0.05396	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92890|0.92890	0.7738|0.7738	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.70227	.|0.935;0.935;0.968	D|D	0.92716|0.92716	0.6187|0.6187	5|10	.|0.87932	.|D	.|0	-11.6286|-11.6286	15.3897|15.3897	0.74731|0.74731	0.0:0.7349:0.0:0.2651|0.0:0.7349:0.0:0.2651	.|.	.|1447;1906;1724	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	I|H	453|1906;1687;1724	.|ENSP00000382204:Q1906H;ENSP00000384990:Q1687H;ENSP00000444682:Q1724H	.|ENSP00000382204:Q1906H	K|Q	-|-	2|3	0|2	JMJD1C|JMJD1C	64624068|64624068	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.992000|0.992000	0.81027|0.81027	0.907000|0.907000	0.28531|0.28531	-0.476000|-0.476000	0.06842|0.06842	-0.250000|-0.250000	0.11733|0.11733	AAA|CAA		0.333	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64954062	T	A	64954062	3	1	198	1	0	0	0	0	1	0	0	0	7950	1838	64	5	1956	5	JMJD1C	10	64954062	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		64954062	70580685	32	13976											
PDCD11	22984	broad.mit.edu	37	chr10	105204397	105204397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagatgtctggtcggtctAtatcgacatgaccatcaagc	11	10	9	11	2	3	2	1	1	2	1	5	3	3	2	1	2	1	0	1	2	3	2	rs377470805		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:105204397A>G	ENST00000369797.3	+	35	5496	c.5402A>G	c.(5401-5403)tAt>tGt	p.Y1801C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1801					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTCGGTCTATATCGACATG	0.597																																						uc001kwy.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(5401-5403)tAt>tGt		Homo sapiens programmed cell death 11 (PDCD11), mRNA.		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	128	112	118		5402	4.4	1	10		118	0,8600		0,0,4300	no	missense	PDCD11	NM_014976.1	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1801/1872	105204397	1,13005	2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105204397A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5402A>G	10.37:g.105204397A>G	ENSP00000358812:p.Tyr1801Cys						p.Y1801C	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5489	+		Colorectal(252;0.0747)|Breast(234;0.128)	1801					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.5402A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670599	0.67814	2.27E-4	0.0	ENSG00000148843	ENST00000369797	T	0.61392	0.11	5.57	4.41	0.53225	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.104288	0.64402	D	0.000002	T	0.78136	0.4236	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.81486	-0.0911	10	0.87932	D	0	-10.5766	11.7856	0.52041	0.8682:0.0:0.0:0.1318	.	1801	Q14690	RRP5_HUMAN	C	1801	ENSP00000358812:Y1801C	ENSP00000358812:Y1801C	Y	+	2	0	PDCD11	105194387	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.854000	0.69503	0.906000	0.36621	0.459000	0.35465	TAT		0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			G	105204397	A	G	105204397	3	3	198	1	0	0	0	0	1	0	0	0	11617	449	16	4	5536	4	PDCD11	10	105204397	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	40250335	105204397	30330350	33	13977											
CHID1	66005	broad.mit.edu	37	chr11	902312	902312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaagaccttggtgacatCgtagccatggctgttccact	9	10	9	13	1	0	2	0	1	0	1	2	2	1	2	4	2	1	3	4	2	2	3	rs373864240		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:902312C>T	ENST00000449825.1	-	4	636	c.280G>A	c.(280-282)Gat>Aat	p.D94N	CHID1_ENST00000528581.1_Missense_Mutation_p.D119N|CHID1_ENST00000323541.7_Missense_Mutation_p.D124N|CHID1_ENST00000323578.8_Missense_Mutation_p.D94N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Missense_Mutation_p.D94N|CHID1_ENST00000454838.2_Missense_Mutation_p.D119N|CHID1_ENST00000429789.2_Missense_Mutation_p.D94N|CHID1_ENST00000336845.5_Missense_Mutation_p.D119N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	94					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TTGGTGACATCGTAGCCATGG	0.562																																					Pancreas(117;992 2327 5172 41921)	uc010qwu.1																			0		p.T124M(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(370-372)Gat>Aat		Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	171	134	146		280,280,355,280,280	4	0.9	11		146	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	CHID1	NM_001142674.1,NM_001142675.1,NM_001142676.1,NM_001142677.1,NM_023947.3	23,23,23,23,23	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	94/394,94/394,119/419,94/363,94/394	902312	1,13003	2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:902312C>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.280G>A	11.37:g.902312C>T	ENSP00000391255:p.Asp94Asn					CHID1_uc010qwv.2_Missense_Mutation_p.D155N|CHID1_uc001lsn.3_Missense_Mutation_p.D119N|CHID1_uc001lso.3_Missense_Mutation_p.D94N|CHID1_uc001lsm.3_Missense_Mutation_p.D94N|CHID1_uc001lsp.3_Missense_Mutation_p.D94N|CHID1_uc010qww.2_Missense_Mutation_p.D94N	p.D124N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	3	483	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	94					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.370G>A	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413234	0.62511	0.0	1.16E-4	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859;ENST00000533056;ENST00000533059;ENST00000530939	T;T;T;T;T;T;T;T	0.30981	3.45;3.45;3.45;3.45;1.51;3.45;3.45;3.45	3.96	3.96	0.45880	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047898	0.85682	D	0.000000	T	0.50394	0.1613	M	0.68593	2.085	0.80722	D	1	P;P;D;B;P	0.76494	0.491;0.826;0.999;0.299;0.625	B;B;D;B;B	0.70716	0.196;0.252;0.97;0.124;0.223	T	0.44682	-0.9312	10	0.25106	T	0.35	-14.7389	15.2934	0.73885	0.0:1.0:0.0:0.0	.	155;124;94;119;94	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	N	124;94;119;94;94;119;119;94;94;94;94;94	ENSP00000324821:D124N;ENSP00000391255:D94N;ENSP00000398722:D119N;ENSP00000325055:D94N;ENSP00000416034:D94N;ENSP00000435503:D119N;ENSP00000338838:D119N;ENSP00000388156:D94N	ENSP00000324821:D124N	D	-	1	0	CHID1	892312	0.978000	0.34361	0.866000	0.34008	0.992000	0.81027	2.838000	0.48199	2.223000	0.72356	0.563000	0.77884	GAT		0.562	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		T	902312	C	T	902312	3	4	198	1	0	0	0	0	1	0	0	0	3345	884	31	2	941	2	CHID1	11	902312	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		902312	134104204	34	13978											
WT1	7490	broad.mit.edu	37	chr11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaccgggagaactttcGctgacaagttttacactgga	10	10	12	9	3	0	2	0	1	0	1	2	5	0	4	1	3	2	2	1	3	3	3	rs121907909		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:32413578G>A	ENST00000379079.2	-	9	1009	c.736C>T	c.(736-738)Cga>Tga	p.R246*	WT1_ENST00000448076.3_Nonsense_Mutation_p.R458*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R229*|WT1_ENST00000332351.3_Nonsense_Mutation_p.R458*	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	390					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.2			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	10	Substitution - Nonsense(9)|Deletion - In frame(1)	p.R390*(9)|p.V380_S410del(1)	kidney(6)|haematopoietic_and_lymphoid_tissue(4)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM971596	WT1	M	rs121907909	c.(1372-1374)Cga>Tga		Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.							178	171	173					11																	32413578		2202	4299	6501	SO:0001587	stop_gained	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413578G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.736C>T	11.37:g.32413578G>A	ENSP00000368370:p.Arg246*					WT1_uc001mtl.2_Nonsense_Mutation_p.R246*|WT1_uc001mtm.2_Nonsense_Mutation_p.R229*|WT1_uc001mto.2_Nonsense_Mutation_p.R458*|WT1_uc001mtq.2_Nonsense_Mutation_p.R441*|WT1_uc009yjs.2_Non-coding_Transcript	p.R458*	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		8	1562	-	Breast(20;0.247)		390					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Nonsense_Mutation	SNP	ENST00000379079.2	37	c.1372C>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.146895|8.146895	0.98678|0.98678	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|.	.|.	.|.	6.04|6.04	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|.	0.34890|.	0.0913|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	3|.	.|0.02654	.|T	.|1	.|.	13.9745|13.9745	0.64262|0.64262	0.0:0.0:0.7756:0.2244|0.0:0.0:0.7756:0.2244	.|.	.|.	.|.	.|.	V|X	118|246;458;229;441;458	.|.	.|ENSP00000331327:R458X	A|R	-|-	2|1	0|2	WT1|WT1	32370154|32370154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.624000|4.624000	0.61254|0.61254	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.458	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		A	32413578	G	A	32413578	4	1	198	1	0	0	0	0	0	1	0	0	17405	1095	38	1	189	1	WT1	11	32413578	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	31511266	32413578	102592938	35	13979											
OR5W2	390148	broad.mit.edu	37	chr11	55681478	55681478	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataacactaactcattgAcctgtgtatctgagcgagag	13	11	9	8	1	2	4	1	3	1	1	2	5	2	4	1	0	3	1	1	0	4	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:55681478A>T	ENST00000344514.1	-	1	580	c.581T>A	c.(580-582)gTc>gAc	p.V194D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAACTCATTGACCTGTGTATC	0.393																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			0		p.Q193K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(580-582)gTc>gAc		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							64	65	64					11																	55681478		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681478A>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.581T>A	11.37:g.55681478A>T	ENSP00000342448:p.Val194Asp						p.V194D	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	581	-			194						Missense_Mutation	SNP	ENST00000344514.1	37	c.581T>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431402	0.62844	.	.	ENSG00000187612	ENST00000344514	T	0.00193	8.58	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.211136	0.23560	N	0.046868	T	0.00440	0.0014	M	0.75777	2.31	0.35513	D	0.800808	P	0.41947	0.766	P	0.57620	0.824	T	0.67745	-0.5591	10	0.87932	D	0	.	8.8033	0.34923	0.9092:0.0:0.0908:0.0	.	194	Q8NH69	OR5W2_HUMAN	D	194	ENSP00000342448:V194D	ENSP00000342448:V194D	V	-	2	0	OR5W2	55438054	0.001000	0.12720	0.295000	0.24960	0.773000	0.43773	1.464000	0.35288	0.751000	0.32900	0.443000	0.29094	GTC		0.393	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		T	55681478	A	T	55681478	3	4	198	1	0	0	0	0	1	0	0	0	11185	275	10	5	353	5	OR5W2	11	55681478	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	23267900	55681478	79325038	36	13980											
ATM	472	broad.mit.edu	37	chr11	108143569	108143572	+	Frame_Shift_Del	DEL	TCAA	TCAA	-																															ttcgcatgttggctgcagagTcaatcaataggtaatgggtc																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:108143569_108143572delTCAA	ENST00000452508.2	+	23	3463_3466	c.3274_3277delTCAA	c.(3274-3279)tcaatcfs	p.SI1092fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.SI1092fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1092					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGCTGCAGAGTCAATCAATAGGTA	0.363			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CM053096	ATM	M		c.(3274-3279)tcaatcfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.																																				SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143569_108143572delTCAA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3274_3277delTCAA	11.37:g.108143573_108143576delTCAA	ENSP00000388058:p.Ser1092fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs	p.S1092fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	21	3659_3662	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1092					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.3274_3277delTCAA	CCDS31669.1																																																																																				0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		-	108143572	TCAA	-	108143569	7	5	198	1	0	1	0	1	0	0	0	0	1109	1667	58	0	3356	0	ATM	11	108143569	Frame_Shift_Del	DEL	TCAA	TCGA-27-2528-01A-01D-1494-08	52462091	108143569	26862947	37	13981											
FOXM1	2305	broad.mit.edu	37	chr12	2975658	2975658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccggacaaacatgtcGtgcagggaaaggttgtggcg	9	8	15	9	3	1	0	0	0	1	0	3	2	1	2	1	4	2	2	1	4	2	1	rs373291558		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:2975658G>A	ENST00000359843.3	-	5	944	c.876C>T	c.(874-876)caC>caT	p.H292H	FOXM1_ENST00000342628.2_Silent_p.H292H|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Silent_p.H292H	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	292					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAAACATGTCGTGCAGGGAAA	0.502																																						uc001qlf.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(874-876)caC>caT		Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.		G	,,	0,4406		0,0,2203	87	81	83		876,876,876	-8.5	0.3	12		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	292/764,292/802,292/749	2975658	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2975658G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.876C>T	12.37:g.2975658G>A						FOXM1_uc001qle.3_Silent_p.H292H|FOXM1_uc009zea.3_Silent_p.H291H|FOXM1_uc009zeb.3_Silent_p.H291H|FOXM1_uc001qlg.3_Silent_p.H292H	p.H292H	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		4	1159	-			292					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.876C>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	7.422	0.637023	0.14386	0.0	1.16E-4	ENSG00000111206	ENST00000535350	.	.	.	5.95	-8.47	0.00939	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4986	0.95083	0.3143:0.0:0.6857:0.0	.	.	.	.	X	17	.	.	R	-	1	2	FOXM1	2845919	0.347000	0.24853	0.350000	0.25708	0.802000	0.45316	-0.208000	0.09371	-2.071000	0.00880	-1.931000	0.00510	CGA		0.502	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		A	2975658	G	A	2975658	2	1	198	1	0	0	0	0	0	0	0	1	6018	1136	40	1		1	FOXM1	12	2975658	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08		2975658	130876237	38	13982											
FAM90A1	55138	broad.mit.edu	37	chr12	8376154	8376154	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcgggtcttgtggcCtgcagaacagaaaaaggtca	10	9	12	10	1	3	2	1	0	2	2	4	2	4	2	2	3	3	1	2	3	3	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:8376154C>T	ENST00000538603.1	-	6	882		c.e6-1		FAM90A1_ENST00000307435.6_Splice_Site	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTTGTGGCCTGCAGAACAG	0.542																																						uc001qui.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.e6-1		Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.							29	29	29					12																	8376154		2201	4296	6497	SO:0001630	splice_region_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8376154C>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.324-1G>A	12.37:g.8376154C>T						FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	p.R108_splice	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	6	883	-			108					D3DUU9|Q9NVZ6	Splice_Site	SNP	ENST00000538603.1	37	c.324_splice	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	c	3.798	-0.042191	0.07452	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.23776	N	0.99688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4276	0.16436	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM90A1	8267421	0.006000	0.16342	0.080000	0.20451	0.022000	0.10575	0.256000	0.18351	0.870000	0.35726	0.205000	0.17691	.		0.542	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088	Intron	T	8376154	C	T	8376154	5	4	198	1	0	0	0	0	0	0	1	0	5650	695	24	3	1079	3	FAM90A1	12	8376154	Splice_Site	SNP	C	TCGA-27-2528-01A-01D-1494-08	5400496	8376154	125475741	39	13983											
PTPRO	5800	broad.mit.edu	37	chr12	15650274	15650274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attatccagaaaaatataacGttttcacaagagtgaacatt	18	12	5	6	1	1	3	1	1	0	2	2	3	2	3	1	0	2	1	1	0	7	6			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:15650274G>A	ENST00000281171.4	+	3	775	c.445G>A	c.(445-447)Gtt>Att	p.V149I	PTPRO_ENST00000348962.2_Missense_Mutation_p.V149I|PTPRO_ENST00000543886.1_Missense_Mutation_p.V149I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	149	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAATATAACGTTTTCACAAG	0.378																																						uc001rcv.2																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(445-447)Gtt>Att		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.							104	112	109					12																	15650274		2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15650274G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.445G>A	12.37:g.15650274G>A	ENSP00000281171:p.Val149Ile					PTPRO_uc001rcw.2_Missense_Mutation_p.V149I|PTPRO_uc001rcu.2_Missense_Mutation_p.V149I	p.V149I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			2	915	+		Hepatocellular(102;0.244)	149			Fibronectin type-III 2.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.445G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349685	0.41599	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04194	3.72;3.68	4.81	4.81	0.61882	.	0.000000	0.44902	D	0.000420	T	0.03136	0.0092	N	0.04508	-0.205	0.80722	D	1	P;P;D	0.53619	0.725;0.605;0.961	B;B;B	0.40285	0.073;0.033;0.325	T	0.63695	-0.6579	10	0.30854	T	0.27	.	18.0727	0.89415	0.0:0.0:1.0:0.0	.	149;149;149	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	149	ENSP00000281171:V149I;ENSP00000343434:V149I	ENSP00000281171:V149I	V	+	1	0	PTPRO	15541541	1.000000	0.71417	0.978000	0.43139	0.931000	0.56810	4.991000	0.63883	2.497000	0.84241	0.655000	0.94253	GTT		0.378	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15650274	G	A	15650274	3	1	198	1	0	0	0	0	1	0	0	0	12809	1145	40	1	455	1	PTPRO	12	15650274	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	7274120	15650274	118201621	40	13984											
ANP32D	23519	broad.mit.edu	37	chr12	48866783	48866783	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagagcccctgaaaaagttAgaaaacctcgagagcttaga	17	7	9	8	1	0	5	0	1	0	4	1	6	0	5	3	0	3	2	3	0	7	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:48866783A>C	ENST00000266594.1	+	1	336	c.336A>C	c.(334-336)ttA>ttC	p.L112F		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	112						nuclear matrix (GO:0016363)		p.L112_E113>*(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGAAAAAGTTAGAAAACCTCG	0.408																																						uc010slt.2																			1	Complex - deletion inframe(1)	p.L112_E113>*(2)	ovary(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(334-336)ttA>ttC		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.							83	83	83					12																	48866783		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866783A>C	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.336A>C	12.37:g.48866783A>C	ENSP00000266594:p.Leu112Phe						p.L112F	NM_012404	NP_036536	O95626	AN32D_HUMAN			0	336	+			112					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.336A>C	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836492	0.50951	.	.	ENSG00000139223	ENST00000266594	T	0.71698	-0.59	1.67	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	L	0.49778	1.585	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	T	0.66654	-0.5869	10	0.39692	T	0.17	.	3.6682	0.08264	0.4636:0.0:0.3609:0.1755	.	112	O95626	AN32D_HUMAN	F	112	ENSP00000266594:L112F	ENSP00000266594:L112F	L	+	3	2	ANP32D	47153050	1.000000	0.71417	0.001000	0.08648	0.750000	0.42670	1.603000	0.36794	-1.518000	0.01778	-0.540000	0.04249	TTA		0.408	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		C	48866783	A	C	48866783	3	2	198	1	0	0	0	0	1	0	0	0	708	417	15	5	338	5	ANP32D	12	48866783	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	33216509	48866783	84985112	41	13985											
NR4A1	3164	broad.mit.edu	37	chr12	52451031	52451031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagctcttcatcctccGcctggcgtacaggtgagagc	6	9	12	14	2	2	1	1	1	1	1	4	3	4	2	4	3	3	2	4	3	1	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:52451031G>A	ENST00000243050.1	+	6	1663	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	NR4A1_ENST00000394824.2_Missense_Mutation_p.R450H|NR4A1_ENST00000394825.1_Missense_Mutation_p.R450H|NR4A1_ENST00000360284.3_Missense_Mutation_p.R463H|NR4A1_ENST00000545748.1_Missense_Mutation_p.R504H|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Missense_Mutation_p.R463H	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	450	Ligand-binding. {ECO:0000255}.				cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCATCCTCCGCCTGGCGTAC	0.612																																						uc001rzs.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1348-1350)cGc>cAc		Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.							38	36	37					12																	52451031		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451031G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1349G>A	12.37:g.52451031G>A	ENSP00000243050:p.Arg450His					NR4A1_uc010sno.2_Missense_Mutation_p.R463H|NR4A1_uc001rzt.3_Missense_Mutation_p.R450H|NR4A1_uc009zmc.3_Missense_Mutation_p.A64T	p.R450H	NM_002135	NP_775180	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	1668	+			450			Ligand-binding (Potential).		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1349G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194342	0.94960	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.12	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99260	1.0890	10	0.87932	D	0	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	463;450	B4DML7;P22736	.;NR4A1_HUMAN	H	463;504;463;450;450;450	ENSP00000353427:R463H;ENSP00000440864:R504H;ENSP00000449539:R463H;ENSP00000243050:R450H;ENSP00000378302:R450H;ENSP00000378301:R450H	ENSP00000243050:R450H	R	+	2	0	NR4A1	50737298	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.595000	0.98260	2.837000	0.97791	0.655000	0.94253	CGC		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52451031	G	A	52451031	3	1	198	1	0	0	0	0	1	0	0	0	10632	1087	38	1	1363	1	NR4A1	12	52451031	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	3584248	52451031	81400864	42	13986											
EFS	10278	broad.mit.edu	37	chr14	23829158	23829158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagggggctgcggggCaacccgggtcagagggtggg	5	5	20	11	2	2	1	1	0	1	1	3	1	2	1	2	7	2	2	2	7	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr14:23829158C>T	ENST00000216733.3	-	4	1136	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	EFS_ENST00000429593.2_Missense_Mutation_p.A84T|EFS_ENST00000351354.3_Missense_Mutation_p.A84T|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	177	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCGGGGCAACCCGGGTC	0.652																																						uc001wjo.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(529-531)Gcc>Acc		Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.							36	46	42					14																	23829158		2085	4019	6104	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829158C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.529G>A	14.37:g.23829158C>T	ENSP00000216733:p.Ala177Thr					EFS_uc001wjp.3_Missense_Mutation_p.A84T|EFS_uc010tnm.2_Missense_Mutation_p.A84T	p.A177T	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	3	1137	-	all_cancers(95;7.12e-06)		177			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.529G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	5.997	0.367918	0.11352	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57273	0.41;0.6;0.7	5.25	1.04	0.20106	.	1.593040	0.03336	N	0.194084	T	0.44138	0.1279	L	0.54323	1.7	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.001;0.006;0.001	T	0.09079	-1.0691	10	0.12430	T	0.62	0.2623	3.4065	0.07343	0.1452:0.5617:0.128:0.1651	.	84;84;177	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	177;84;84	ENSP00000216733:A177T;ENSP00000340607:A84T;ENSP00000416684:A84T	ENSP00000216733:A177T	A	-	1	0	EFS	22898998	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.267000	0.08619	0.365000	0.24400	0.514000	0.50259	GCC		0.652	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			T	23829158	C	T	23829158	3	4	198	1	0	0	0	0	1	0	0	0	4959	710	25	3	1168	3	EFS	14	23829158	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		23829158	83520382	43	13987											
CPPED1	55313	broad.mit.edu	37	chr16	12798557	12798557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtagtcgtcgtcctcgtcGatgctctccaggaacagcgg	7	10	12	12	5	1	0	0	0	1	0	7	2	2	1	2	2	3	2	2	2	3	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr16:12798557G>A	ENST00000381774.4	-	3	879	c.639C>T	c.(637-639)atC>atT	p.I213I	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	213	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTCCTCGTCGATGCTCTCCA	0.602																																						uc002dca.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(637-639)atC>atT		Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.							93	95	94					16																	12798557		2128	4257	6385	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12798557G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.639C>T	16.37:g.12798557G>A						CPPED1_uc002dcb.4_Intron	p.I213I	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			2	750	-			213					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.639C>T	CCDS42120.1																																																																																				0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		A	12798557	G	A	12798557	2	1	198	1	0	0	0	0	0	0	0	1	3822	1048	37	2		2	CPPED1	16	12798557	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08		12798557	77556196	44	13988											
EFNB3	1949	broad.mit.edu	37	chr17	7612770	7612770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggatagctctgcggggtgGcggggctgcagatcccccct	5	7	17	12	2	1	1	0	0	1	1	2	2	2	2	3	6	3	3	3	6	1	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7612770G>A	ENST00000226091.2	+	5	1296	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	300					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCGGGGTGGCGGGGCTGCA	0.667																																						uc002gis.3																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(898-900)gGc>gAc		Homo sapiens ephrin-B3 (EFNB3), mRNA.							44	43	43					17																	7612770		2199	4291	6490	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612770G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.899G>A	17.37:g.7612770G>A	ENSP00000226091:p.Gly300Asp						p.G300D	NM_001406	NP_001397	Q15768	EFNB3_HUMAN			4	1296	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	300					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.899G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	G	6.815	0.519430	0.13005	.	.	ENSG00000108947	ENST00000226091	D	0.90004	-2.6	4.47	4.47	0.54385	.	0.350601	0.21187	N	0.078719	T	0.79805	0.4509	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.67562	-0.5639	10	0.42905	T	0.14	-2.9652	8.2935	0.31971	0.1057:0.0:0.8943:0.0	.	300	Q15768	EFNB3_HUMAN	D	300	ENSP00000226091:G300D	ENSP00000226091:G300D	G	+	2	0	EFNB3	7553495	0.989000	0.36119	0.084000	0.20598	0.733000	0.41908	-0.232000	0.09055	2.322000	0.78497	0.643000	0.83706	GGC		0.667	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		A	7612770	G	A	7612770	3	1	198	1	0	0	0	0	1	0	0	0	4957	1203	42	3	917	3	EFNB3	17	7612770	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		7612770	73582440	45	13989											
DNAH2	146754	broad.mit.edu	37	chr17	7626952	7626952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattcttcctagagccacGgttggagggacctcaagcac	9	11	10	11	1	2	1	1	0	1	1	3	3	3	3	3	3	2	2	3	3	3	6			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7626952G>A	ENST00000572933.1	+	3	1633	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	DNAH2_ENST00000570791.1_Missense_Mutation_p.R58Q|DNAH2_ENST00000082259.3_Missense_Mutation_p.R58Q|DNAH2_ENST00000389173.2_Missense_Mutation_p.R58Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	58	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTAGAGCCACGGTTGGAGGGA	0.512																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(172-174)cGg>cAg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							129	115	119					17																	7626952		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7626952G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.173G>A	17.37:g.7626952G>A	ENSP00000458355:p.Arg58Gln					DNAH2_uc002git.3_Missense_Mutation_p.R58Q|DNAH2_uc010vuk.2_Missense_Mutation_p.R58Q	p.R58Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			1	187	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	58			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.173G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916425	0.17907	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.22743	1.94;2.23	3.97	-6.47	0.01902	.	1.200850	0.06261	N	0.693887	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.003;0.051	B;B	0.19946	0.004;0.027	T	0.32640	-0.9899	10	0.14252	T	0.57	.	0.9302	0.01333	0.3941:0.114:0.2766:0.2152	.	58;58	Q9P225;Q9P225-3	DYH2_HUMAN;.	Q	58	ENSP00000373825:R58Q;ENSP00000082259:R58Q	ENSP00000082259:R58Q	R	+	2	0	DNAH2	7567677	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.631000	0.02026	-1.280000	0.02402	-0.410000	0.06199	CGG		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7626952	G	A	7626952	3	1	198	1	0	0	0	0	1	0	0	0	4602	1116	39	2	179	2	DNAH2	17	7626952	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	14182	7626952	73568258	46	13990											
ULK2	9706	broad.mit.edu	37	chr17	19705231	19705231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggaccttcgtaccactgCagatctgaaaagtaaattat	13	12	8	8	1	1	2	0	1	1	1	2	3	1	3	2	1	2	4	2	1	6	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:19705231C>T	ENST00000395544.4	-	16	1799	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Missense_Mutation_p.A434T	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	434					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CGTACCACTGCAGATCTGAAA	0.468																																						uc002gwm.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1300-1302)Gca>Aca		Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.							130	135	133					17																	19705231		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19705231C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1300G>A	17.37:g.19705231C>T	ENSP00000378914:p.Ala434Thr					ULK2_uc002gwn.3_Missense_Mutation_p.A434T	p.A434T	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN			15	1809	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		434					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1300G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998601	0.54147	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.67345	-0.26;-0.26	6.02	4.05	0.47172	.	0.154298	0.56097	N	0.000025	T	0.59756	0.2217	L	0.51422	1.61	0.40776	D	0.983132	B	0.02656	0.0	B	0.04013	0.001	T	0.56214	-0.8016	10	0.39692	T	0.17	-6.7212	12.5686	0.56323	0.0:0.8775:0.0:0.1225	.	434	Q8IYT8	ULK2_HUMAN	T	434	ENSP00000354877:A434T;ENSP00000378914:A434T	ENSP00000354877:A434T	A	-	1	0	ULK2	19645823	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.918000	0.48829	0.897000	0.36392	0.655000	0.94253	GCA		0.468	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		T	19705231	C	T	19705231	3	4	198	1	0	0	0	0	1	0	0	0	16973	710	25	3	1858	3	ULK2	17	19705231	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	12078279	19705231	61489979	47	13991											
UNC45B	146862	broad.mit.edu	37	chr17	33482349	33482349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgcagtgcggatagaccGaatctgtagcctcatggccg	9	8	13	11	3	2	1	1	0	1	1	2	3	2	2	3	2	3	3	3	2	3	2	rs529858933		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:33482349G>A	ENST00000268876.5	+	7	771	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	UNC45B_ENST00000591048.1_Missense_Mutation_p.R225Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.R225Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.R225Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.R225Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	225					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R225Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGGATAGACCGAATCTGTAGC	0.562																																						uc002hja.3																			1	Substitution - Missense(1)	p.R225Q(2)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(673-675)cGa>cAa		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.							148	115	126					17																	33482349		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33482349G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.674G>A	17.37:g.33482349G>A	ENSP00000268876:p.Arg225Gln					UNC45B_uc002hjb.3_Missense_Mutation_p.R225Q|UNC45B_uc002hjc.3_Missense_Mutation_p.R225Q|UNC45B_uc010cto.3_Missense_Mutation_p.R225Q	p.R225Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			6	771	+		Ovarian(249;0.17)	225					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.674G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642300	0.47153	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.51574	0.7;3.56;0.7;0.79	6.04	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.173261	0.48286	N	0.000186	T	0.32823	0.0842	L	0.31926	0.97	0.31998	N	0.603709	P;B;B	0.37781	0.608;0.055;0.018	B;B;B	0.36134	0.218;0.02;0.009	T	0.36529	-0.9744	10	0.22109	T	0.4	-1.6495	9.0382	0.36300	0.2836:0.0:0.7164:0.0	.	225;225;225	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	Q	225	ENSP00000378071:R225Q;ENSP00000268876:R225Q;ENSP00000412840:R225Q;ENSP00000367710:R225Q	ENSP00000268876:R225Q	R	+	2	0	UNC45B	30506462	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	2.305000	0.43664	0.904000	0.36572	0.561000	0.74099	CGA		0.562	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33482349	G	A	33482349	3	1	198	1	0	0	0	0	1	0	0	0	16986	1058	37	2	696	2	UNC45B	17	33482349	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	13777118	33482349	47712861	48	13992											
RNF43	54894	broad.mit.edu	37	chr17	56439918	56439918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccggcctgctgtggCgggggcggcaccggatgcgc	3	6	18	14	5	1	0	1	0	0	0	1	1	1	1	3	6	3	3	3	6	0	0	rs367688879		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:56439918C>T	ENST00000584437.1	-	5	2629	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RNF43_ENST00000581868.1_Missense_Mutation_p.R98H|RNF43_ENST00000500597.2_Missense_Mutation_p.R184H|RNF43_ENST00000577625.1_Missense_Mutation_p.R98H|RNF43_ENST00000583753.1_Missense_Mutation_p.R184H|RNF43_ENST00000407977.2_Missense_Mutation_p.R225H|RNF43_ENST00000577716.1_Missense_Mutation_p.R225H|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	225				R -> H (in Ref. 2; BAH12429). {ECO:0000305}.	negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCTGTGGCGGGGGCGGCA	0.597													C|||	1	0.000199681	0	0	5008	,	,		16237	0.001		0	False		,,,				2504	0					uc002iwf.3																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(673-675)cGc>cAc		Homo sapiens ring finger protein 43 (RNF43), mRNA.		C	HIS/ARG	1,4405		0,1,2202	53	56	55		674	-6	0.1	17		55	0,8600		0,0,4300	no	missense	RNF43	NM_017763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	225/784	56439918	1,13005	2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439918C>T		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.674G>A	17.37:g.56439918C>T	ENSP00000463069:p.Arg225His					RNF43_uc010wnv.2_Missense_Mutation_p.R184H|RNF43_uc002iwh.4_Missense_Mutation_p.R225H|RNF43_uc002iwg.4_Missense_Mutation_p.R225H|RNF43_uc010dcw.3_Missense_Mutation_p.R98H	p.R225H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			4	2630	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		225	R -> H (in Ref. 2; BAH12429).				A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.674G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962181	0.34659	2.27E-4	0.0	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10477	2.98;2.87	5.43	-6.0	0.02206	.	1.074910	0.07006	N	0.824248	T	0.05823	0.0152	N	0.14661	0.345	0.19300	N	0.999979	B;B;B	0.15473	0.004;0.013;0.002	B;B;B	0.12156	0.003;0.007;0.0	T	0.42548	-0.9445	10	0.33940	T	0.23	-26.467	9.4348	0.38632	0.1086:0.2359:0.0:0.6555	.	184;225;225	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	H	225;184	ENSP00000385328:R225H;ENSP00000441969:R184H	ENSP00000385328:R225H	R	-	2	0	RNF43	53794917	0.001000	0.12720	0.051000	0.19133	0.773000	0.43773	-1.851000	0.01669	-1.294000	0.02360	-1.260000	0.01463	CGC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		T	56439918	C	T	56439918	3	4	198	1	0	0	0	0	1	0	0	0	13495	768	27	1	1697	1	RNF43	17	56439918	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	22957569	56439918	24755292	49	13993											
BPTF	2186	broad.mit.edu	37	chr17	65889572	65889572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaatatcaacaattatttTaaattgggtcaagaagggaa	18	11	9	3	0	2	1	2	0	0	1	2	3	2	3	0	3	1	0	0	3	10	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:65889572T>C	ENST00000321892.4	+	8	2581	c.2520T>C	c.(2518-2520)ttT>ttC	p.F840F	BPTF_ENST00000335221.5_Silent_p.F840F|BPTF_ENST00000424123.3_Silent_p.F701F|BPTF_ENST00000306378.6_Silent_p.F714F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	840	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATTATTTTAAATTGGGTC	0.373																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2140-2142)ttT>ttC		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							74	70	72					17																	65889572		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889572T>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2520T>C	17.37:g.65889572T>C						BPTF_uc002jge.3_Silent_p.F840F|BPTF_uc010wqm.1_Silent_p.F777F	p.F714F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	2203	+	all_cancers(12;6e-11)		840			Interaction with KEAP1.		Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.2142T>C																																																																																					0.373	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		C	65889572	T	C	65889572	2	2	198	1	0	0	0	0	0	0	0	1	1495	1751	61	4		4	BPTF	17	65889572	Silent	SNP	T	TCGA-27-2528-01A-01D-1494-08	9449654	65889572	15305638	50	13994											
DSC1	1823	broad.mit.edu	37	chr18	28736074	28736074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaataggagcccatcGtctcttgctgcgcttgaggg	7	10	14	10	2	1	1	0	1	1	0	3	3	1	3	1	3	4	3	1	3	2	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:28736074G>A	ENST00000257198.5	-	4	664	c.403C>T	c.(403-405)Cga>Tga	p.R135*	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Nonsense_Mutation_p.R135*	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	135	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGAGCCCATCGTCTCTTGCTG	0.413																																						uc002kwn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(403-405)Cga>Tga		Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.							140	118	126					18																	28736074		2203	4300	6503	SO:0001587	stop_gained	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736074G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.403C>T	18.37:g.28736074G>A	ENSP00000257198:p.Arg135*					DSC1_uc002kwm.3_Nonsense_Mutation_p.R135*	p.R135*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		3	665	-			135			Cadherin 1.		Q9HB01	Nonsense_Mutation	SNP	ENST00000257198.5	37	c.403C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.381657	0.98248	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	.	.	.	5.66	3.45	0.39498	.	0.301125	0.22628	N	0.057613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.0525	0.53515	0.0:0.0:0.3061:0.6939	.	.	.	.	X	135	.	ENSP00000257197:R135X	R	-	1	2	DSC1	26990072	0.894000	0.30519	0.962000	0.40283	0.981000	0.71138	0.819000	0.27308	1.380000	0.46344	0.655000	0.94253	CGA		0.413	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28736074	G	A	28736074	4	1	198	1	0	0	0	0	0	1	0	0	4765	1153	40	1	2373	1	DSC1	18	28736074	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		28736074	49341174	51	13995											
ALPK2	115701	broad.mit.edu	37	chr18	56171191	56171191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaccaggaggcagccActtgttttctggtacaccca	8	10	9	14	1	2	0	1	0	1	0	3	1	3	1	4	3	2	3	4	3	1	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:56171191A>C	ENST00000361673.3	-	11	6432	c.6219T>G	c.(6217-6219)agT>agG	p.S2073R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2073	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGGCAGCCACTTGTTTTCT	0.522																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(6217-6219)agT>agG		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							194	176	182					18																	56171191		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56171191A>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6219T>G	18.37:g.56171191A>C	ENSP00000354991:p.Ser2073Arg						p.S2073R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			10	6433	-			2073			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.6219T>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503182	0.44558	.	.	ENSG00000198796	ENST00000361673	T	0.06294	3.32	5.63	-3.95	0.04118	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.273852	0.35555	N	0.003136	T	0.06735	0.0172	N	0.05078	-0.115	0.28311	N	0.922677	D	0.57899	0.981	D	0.64877	0.93	T	0.12016	-1.0564	10	0.39692	T	0.17	-4.32	12.7877	0.57516	0.5042:0.0:0.4958:0.0	.	2073	Q86TB3	ALPK2_HUMAN	R	2073	ENSP00000354991:S2073R	ENSP00000354991:S2073R	S	-	3	2	ALPK2	54322171	0.000000	0.05858	0.323000	0.25347	0.916000	0.54674	-1.394000	0.02518	-0.722000	0.04922	-0.262000	0.10625	AGT		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56171191	A	C	56171191	3	2	198	1	0	0	0	0	1	0	0	0	545	156	6	5	305	5	ALPK2	18	56171191	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	27435117	56171191	21906057	52	13996											
SERPINB10	5273	broad.mit.edu	37	chr18	61585273	61585273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaatcctcaagcccaaCgatgactacttacttaaaac	16	9	4	12	1	2	2	2	1	0	1	3	3	3	2	2	0	5	0	2	0	7	3	rs61761878	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:61585273C>T	ENST00000238508.3	+	4	368	c.309C>T	c.(307-309)aaC>aaT	p.N103N		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	103					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TCAAGCCCAACGATGACTACT	0.353													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		20428	0		0	False		,,,				2504	0					uc010xev.2																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(307-309)aaC>aaT		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	C		14,4392	22.3+/-47.3	0,14,2189	96	89	91		309	2.7	0	18	dbSNP_129	91	0,8600		0,0,4300	no	coding-synonymous	SERPINB10	NM_005024.1		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		103/398	61585273	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	5273				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61585273C>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.309C>T	18.37:g.61585273C>T						SERPINB2_uc010xew.2_Silent_p.N103N	p.N103N	NM_005024	NP_005015	P05120	PAI2_HUMAN			3	399	+		Esophageal squamous(42;0.131)	118					Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	c.309C>T	CCDS11990.1																																																																																				0.353	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		T	61585273	C	T	61585273	2	4	198	1	0	0	0	0	0	0	0	1	14097	535	19	1		1	SERPINB10	18	61585273	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	5414082	61585273	16491975	53	13997											
C3	718	broad.mit.edu	37	chr19	6681977	6681977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtagatgatgagggtgTtcctatcggagaaggctttg	9	11	15	6	1	0	4	0	2	0	2	2	5	1	4	2	4	0	3	2	4	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:6681977T>G	ENST00000245907.6	-	35	4417	c.4325A>C	c.(4324-4326)aAc>aCc	p.N1442T	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1442	Properdin-binding.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATGAGGGTGTTCCTATCGGA	0.532																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4324-4326)aAc>aCc		Homo sapiens complement component 3 (C3), mRNA.							189	172	178					19																	6681977		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6681977T>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4325A>C	19.37:g.6681977T>G	ENSP00000245907:p.Asn1442Thr						p.N1442T	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	34	4387	-			1442			Properdin-binding.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4325A>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962748	0.53507	.	.	ENSG00000125730	ENST00000245907	T	0.32023	1.47	5.71	5.71	0.89125	Alpha-macroglobulin, receptor-binding (3);	0.200083	0.52532	D	0.000070	T	0.43765	0.1262	M	0.89095	3.005	0.36628	D	0.876112	B	0.30584	0.286	B	0.39706	0.307	T	0.54344	-0.8308	10	0.33940	T	0.23	.	7.2166	0.25963	0.0:0.1596:0.0:0.8404	.	1442	P01024	CO3_HUMAN	T	1442	ENSP00000245907:N1442T	ENSP00000245907:N1442T	N	-	2	0	C3	6632977	1.000000	0.71417	0.995000	0.50966	0.430000	0.31655	1.631000	0.37092	2.176000	0.68965	0.478000	0.44815	AAC		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		G	6681977	T	G	6681977	3	3	198	1	0	0	0	0	1	0	0	0	2204	1725	60	5	694	5	C3	19	6681977	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		6681977	52447006	54	13998											
LILRA2	11027	broad.mit.edu	37	chr19	55086977	55086977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcacacaacctctcctccGagtggtcggcccccagtgac	7	7	10	17	2	1	1	0	1	1	0	4	2	2	1	5	2	2	1	5	2	1	0	rs372106807		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:55086977G>A	ENST00000251377.3	+	6	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LILRA2_ENST00000391738.3_Missense_Mutation_p.E304K|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.E304K|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.E292K			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	304	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTCTCCTCCGAGTGGTCGGC	0.677																																						uc010ern.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(910-912)Gag>Aag		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	43	48	46		910,910	-0.8	0	19		46	0,8598		0,0,4299	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	56,56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	304/484,304/467	55086977	1,13003	2203	4299	6502	SO:0001583	missense	11027				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55086977G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.910G>A	19.37:g.55086977G>A	ENSP00000251377:p.Glu304Lys					LILRA1_uc002qgg.4_Missense_Mutation_p.E304K|LILRA1_uc002qgf.3_Missense_Mutation_p.E304K|LILRA1_uc010yfe.1_Missense_Mutation_p.E304K|LILRA1_uc010yff.1_Missense_Mutation_p.E292K|LILRA1_uc010ero.3_Missense_Mutation_p.E292K|LILRA1_uc010yfg.1_Intron	p.E304K			O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	1379	+			306			Ig-like C2-type 3.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.910G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	8.813	0.935617	0.18206	2.27E-4	0.0	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	2.92	-0.822	0.10819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.207800	0.01379	N	0.012874	T	0.16342	0.0393	L	0.60904	1.88	0.09310	N	1	B;B;B;B	0.24483	0.0;0.027;0.104;0.022	B;B;B;B	0.30572	0.061;0.045;0.117;0.016	T	0.27739	-1.0065	10	0.41790	T	0.15	.	3.3823	0.07259	0.2686:0.2168:0.5146:0.0	.	304;292;304;304	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	K	304;304;304;304;292	ENSP00000388131:E304K;ENSP00000251377:E304K;ENSP00000375618:E304K;ENSP00000251376:E304K;ENSP00000375617:E292K	ENSP00000251376:E304K	E	+	1	0	LILRA2	59778789	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	-0.100000	0.10990	-0.183000	0.10585	0.502000	0.49764	GAG		0.677	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			A	55086977	G	A	55086977	3	1	198	1	0	0	0	0	1	0	0	0	8785	1059	37	2	928	2	LILRA2	19	55086977	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	48405000	55086977	4042006	55	13999											
NTSR1	4923	broad.mit.edu	37	chr20	61386135	61386135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggtacgccaggcggcCgagcagggccaagtgtgcac	8	5	16	12	3	1	0	1	0	0	0	1	1	1	0	3	4	3	3	3	4	2	1	rs377415240		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr20:61386135C>T	ENST00000370501.3	+	2	1184	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	271					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAGGCGGCCGAGCAGGGCC	0.632																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.3																			0		p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(811-813)gcC>gcT		Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.				1,4405	2.1+/-5.4	0,1,2202	112	90	98		813	-0.5	0.8	20		98	0,8600		0,0,4300	no	coding-synonymous	NTSR1	NM_002531.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/419	61386135	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386135C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.813C>T	20.37:g.61386135C>T							p.A271A	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	1184	+	Breast(26;3.65e-08)		271					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.813C>T	CCDS13502.1																																																																																				0.632	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			T	61386135	C	T	61386135	2	4	198	1	0	0	0	0	0	0	0	1	10710	639	23	2		2	NTSR1	20	61386135	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08		61386135	1639385	56	14000											
CXorf22	170063	broad.mit.edu	37	chrX	35938122	35938122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgcataatatttgccGctggaaccagaaaatccgat	13	11	8	9	2	0	1	0	0	0	1	1	3	1	2	3	1	4	2	3	1	6	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrX:35938122G>A	ENST00000297866.5	+	1	272	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	69										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATATTTGCCGCTGGAACCAG	0.582																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(205-207)cGc>cAc		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							44	37	39					X																	35938122		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35938122G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.206G>A	X.37:g.35938122G>A	ENSP00000297866:p.Arg69His					CXorf22_uc010ngv.3_Non-coding_Transcript	p.R69H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			0	272	+			69					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.206G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749732	0.30955	.	.	ENSG00000165164	ENST00000297866	T	0.15256	2.44	5.09	3.32	0.38043	.	0.503904	0.21319	N	0.076503	T	0.12944	0.0314	L	0.40543	1.245	0.09310	N	1	B	0.25105	0.118	B	0.17433	0.018	T	0.19289	-1.0310	10	0.44086	T	0.13	-27.6161	7.4295	0.27120	0.2084:0.0:0.7916:0.0	.	69	Q6ZTR5	CX022_HUMAN	H	69	ENSP00000297866:R69H	ENSP00000297866:R69H	R	+	2	0	CXorf22	35848043	0.091000	0.21658	0.002000	0.10522	0.003000	0.03518	0.742000	0.26216	0.488000	0.27723	0.513000	0.50165	CGC		0.582	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35938122	G	A	35938122	3	1	198	1	0	0	0	0	1	0	0	0	4102	1087	38	1	208	1	CXorf22	23	35938122	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		35938122	119332438	57	14001											
CLCA1	1179	broad.mit.edu	37	chr1	86954794	86954794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtggtgccatcatccAcacagtcgctttggggccct	9	9	10	13	1	1	0	1	0	0	0	3	0	2	0	3	3	1	1	3	3	1	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:86954794A>G	ENST00000234701.3	+	9	1649	c.1298A>G	c.(1297-1299)cAc>cGc	p.H433R	CLCA1_ENST00000394711.1_Missense_Mutation_p.H433R			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	433	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCCATCATCCACACAGTCGCT	0.498																																						uc001dlt.3																			0		p.I432I(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1297-1299)cAc>cGc		Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.							93	89	91					1																	86954794		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86954794A>G		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1298A>G	1.37:g.86954794A>G	ENSP00000234701:p.His433Arg					CLCA1_uc001dls.1_Missense_Mutation_p.H372R	p.H433R	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1558	+		Lung NSC(277;0.239)	433			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1298A>G	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037528	0.54896	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.14516	2.5;2.5	5.68	5.68	0.88126	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	M	0.92219	3.285	0.44194	D	0.997017	D;P	0.56746	0.977;0.937	P;P	0.61722	0.893;0.774	T	0.51260	-0.8728	10	0.87932	D	0	-22.7614	15.5744	0.76365	1.0:0.0:0.0:0.0	.	433;196	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	R	433;433;146	ENSP00000234701:H433R;ENSP00000378200:H433R	ENSP00000234701:H433R	H	+	2	0	CLCA1	86727382	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	6.592000	0.74095	2.152000	0.67230	0.533000	0.62120	CAC		0.498	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		G	86954794	A	G	86954794	3	3	199	1	0	0	0	0	1	0	0	0	3457	159	6	4	1328	4	CLCA1	1	86954794	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08		86954794	162295827	1	14002											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454356	114454356	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagaaactttctccctGgcctgcggaccttgaaaagc	12	8	10	11	1	1	2	0	1	1	1	2	5	1	3	3	2	3	0	3	2	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:114454356G>A	ENST00000369563.3	+	4	1588	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	381					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCTCCCTGGCCTGCGGAC	0.483								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1141-1143)tGg>tAg	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							75	78	77					1																	114454356		2203	4300	6503	SO:0001587	stop_gained	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454356G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1142G>A	1.37:g.114454356G>A	ENSP00000358576:p.Trp381*					DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W255*	p.W381*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1436	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	381					Q9H9E5	Nonsense_Mutation	SNP	ENST00000369563.3	37	c.1142G>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689152	0.96784	.	.	ENSG00000118655	ENST00000369563	.	.	.	4.25	-0.44	0.12261	.	1.230860	0.05958	N	0.640005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-17.1816	3.8077	0.08783	0.339:0.0:0.4881:0.1729	.	.	.	.	X	381	.	ENSP00000358576:W381X	W	+	2	0	DCLRE1B	114255879	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	-0.321000	0.08018	0.206000	0.20587	0.655000	0.94253	TGG		0.483	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		A	114454356	G	A	114454356	4	1	199	1	0	0	0	0	0	1	0	0	4295	1357	47	3	1156	3	DCLRE1B	1	114454356	Nonsense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	27499562	114454356	134796265	2	14003											
HMCN1	83872	broad.mit.edu	37	chr1	186120829	186120829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcaatggctttaccctCaccaatgcagtcttcaaaag	12	10	7	12	0	4	0	3	0	1	0	4	0	4	0	2	1	2	3	2	1	5	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186120829C>A	ENST00000271588.4	+	95	15079	c.14850C>A	c.(14848-14850)ctC>ctA	p.L4950L	HMCN1_ENST00000367492.2_Silent_p.L4950L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4950	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTTTACCCTCACCAATGCAG	0.348																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14848-14850)ctC>ctA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							119	125	123					1																	186120829		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120829C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14850C>A	1.37:g.186120829C>A						MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.L519L	p.L4950L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			94	15079	+			4950			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.14850C>A	CCDS30956.1																																																																																				0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186120829	C	A	186120829	2	1	199	1	0	0	0	0	0	0	0	1	7220	813	29	5		5	HMCN1	1	186120829	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	71666473	186120829	63129792	3	14004											
PLA2G4A	5321	broad.mit.edu	37	chr1	186948519	186948519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacccagaatcaccatTttcaaccttcaattttcaat	13	14	3	11	0	4	3	4	2	0	1	4	3	4	3	3	0	1	0	3	0	4	5			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186948519T>G	ENST00000367466.3	+	17	2185	c.2033T>G	c.(2032-2034)tTt>tGt	p.F678C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F618C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	678	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GAATCACCATTTTCAACCTTC	0.358																																						uc001gsc.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(2032-2034)tTt>tGt		Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						124	120	121					1																	186948519		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186948519T>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.2033T>G	1.37:g.186948519T>G	ENSP00000356436:p.Phe678Cys					PLA2G4A_uc010pos.2_Missense_Mutation_p.F618C	p.F678C	NM_024420	NP_077734	P47712	PA24A_HUMAN			16	2238	+			678			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.2033T>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262726	0.59431	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04654	3.58;3.58	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.091908	0.85682	D	0.000000	T	0.15522	0.0374	L	0.55481	1.735	0.46317	D	0.998982	D;D	0.71674	0.998;0.998	P;P	0.61201	0.885;0.844	T	0.00138	-1.2002	10	0.87932	D	0	-21.424	14.9595	0.71144	0.0:0.0:0.0:1.0	.	618;678	E7EU42;P47712	.;PA24A_HUMAN	C	678;618	ENSP00000356436:F678C;ENSP00000406892:F618C	ENSP00000356436:F678C	F	+	2	0	PLA2G4A	185215142	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.120000	0.65058	0.460000	0.39030	TTT		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		G	186948519	T	G	186948519	3	3	199	1	0	0	0	0	1	0	0	0	12001	1841	64	5	2095	5	PLA2G4A	1	186948519	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	827690	186948519	62302102	4	14005											
NT5C1B	93034	broad.mit.edu	37	chr2	18766137	18766137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaccggggcagctggggCgacgcgggtggctggagcga	6	3	22	10	6	0	0	0	0	0	0	0	4	0	1	1	7	3	3	1	7	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:18766137C>T	ENST00000359846.2	-	5	623	c.546G>A	c.(544-546)tcG>tcA	p.S182S	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.S122S|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.S182S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S182S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	182	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCAGCTGGGGCGACGCGGGTG	0.716																																						uc010exr.3																			0											c.(370-372)tcG>tcA		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							11	17	15					2																	18766137		2139	4141	6280	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18766137C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.546G>A	2.37:g.18766137C>T						NT5C1B-RDH14_uc002rcy.3_Silent_p.S182S|NT5C1B-RDH14_uc010yju.2_Silent_p.S122S|NT5C1B-RDH14_uc002rcz.3_Silent_p.S182S|NT5C1B-RDH14_uc010yjw.2_Silent_p.S165S|NT5C1B-RDH14_uc010yjv.2_Silent_p.S199S|NT5C1B-RDH14_uc010exs.3_Silent_p.S184S|NT5C1B-RDH14_uc002rda.3_Silent_p.S122S|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR	p.S124S	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			3	484	-			182			Ser-rich.		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.372G>A	CCDS33150.1																																																																																				0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			T	18766137	C	T	18766137	2	4	199	1	0	0	0	0	0	0	0	1	10686	755	27	1		1	NT5C1B	2	18766137	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08		18766137	224433236	5	14006											
IL18R1	8809	broad.mit.edu	37	chr2	102988458	102988459	+	Frame_Shift_Del	DEL	AC	AC	-																															aatgtcatcagaagaaataaAcacagctgtttcactgaaag																										TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:102988458_102988459delAC	ENST00000409599.1	+	5	704_705	c.348_349delAC	c.(346-351)aaacacfs	p.H117fs	IL18R1_ENST00000334376.3_Frame_Shift_Del_p.H117fs|IL18R1_ENST00000233957.1_Frame_Shift_Del_p.H117fs			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	117	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGAAATAAACACAGCTGTTT	0.277																																						uc002tbw.4																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(346-351)aaacacfs		Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.																																				SO:0001589	frameshift_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102988458_102988459delAC	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.348_349delAC	2.37:g.102988460_102988461delAC	ENSP00000387211:p.His117fs					IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.2_Frame_Shift_Del_p.K116fs	p.K116fs	NM_003855	NP_003846	Q13478	IL18R_HUMAN			3	498_499	+			116			Ig-like C2-type 1.		B2R9Y5|Q52LC9	Frame_Shift_Del	DEL	ENST00000409599.1	37	c.348_349delAC	CCDS2060.1																																																																																				0.277	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		-	102988459	AC	-	102988458	7	5	199	1	0	1	0	1	0	0	0	0	7647	40	2	0	358	0	IL18R1	2	102988458	Frame_Shift_Del	DEL	AC	TCGA-28-1747-01C-01D-1494-08	84222321	102988458	140210915	6	14007											
CALCRL	10203	broad.mit.edu	37	chr2	188223966	188223966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatataagcttctagcaAtggcatgtatacaagcagga	15	11	9	6	0	1	0	0	0	1	0	1	1	1	1	0	2	4	6	0	2	8	7			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:188223966A>T	ENST00000409998.1	-	12	1596	c.815T>A	c.(814-816)aTt>aAt	p.I272N	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I272N|CALCRL_ENST00000410068.1_Missense_Mutation_p.I272N			Q16602	CALRL_HUMAN	calcitonin receptor-like	272					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTTCTAGCAATGGCATGTAT	0.244																																						uc010frt.3																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(814-816)aTt>aAt		Homo sapiens calcitonin receptor-like (CALCRL), mRNA.							21	22	22					2																	188223966		2183	4284	6467	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188223966A>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.815T>A	2.37:g.188223966A>T	ENSP00000386972:p.Ile272Asn					CALCRL_uc002upv.4_Missense_Mutation_p.I272N	p.I272N	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		9	1198	-			272					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.815T>A	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308757	0.81247	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.39592	1.07;1.07;1.07	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.311468	0.26338	N	0.024953	T	0.69142	0.3078	M	0.90145	3.09	0.39977	D	0.974864	P	0.37573	0.6	P	0.55667	0.781	T	0.75637	-0.3249	10	0.87932	D	0	.	14.8031	0.69929	1.0:0.0:0.0:0.0	.	272	Q16602	CALRL_HUMAN	N	272	ENSP00000376177:I272N;ENSP00000386972:I272N;ENSP00000387190:I272N	ENSP00000376177:I272N	I	-	2	0	CALCRL	187932211	0.991000	0.36638	0.924000	0.36721	0.709000	0.40893	9.228000	0.95250	2.102000	0.63906	0.533000	0.62120	ATT		0.244	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		T	188223966	A	T	188223966	3	4	199	1	0	0	0	0	1	0	0	0	2580	101	4	5	590	5	CALCRL	2	188223966	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	85235508	188223966	54975407	7	14008											
BMPR2	659	broad.mit.edu	37	chr2	203397336	203397336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagatatatggcaccagAagtgctagaaggagctgtga	14	9	12	6	0	1	4	1	1	0	3	1	5	1	5	1	2	2	3	1	2	6	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:203397336A>G	ENST00000374580.4	+	9	1696	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	BMPR2_ENST00000374574.2_Missense_Mutation_p.E386G	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATGGCACCAGAAGTGCTAGAA	0.383																																						uc002uzf.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42	GRCh37	CM043450|CM081186	BMPR2	M		c.(1156-1158)gAa>gGa		Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.							105	104	105					2																	203397336		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203397336A>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1157A>G	2.37:g.203397336A>G	ENSP00000363708:p.Glu386Gly					BMPR2_uc010ftr.3_Missense_Mutation_p.E386G	p.E386G	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			8	2305	+			386			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1157A>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980030	0.92982	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.98762	-5.12;-5.12	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084158	0.85682	D	0.000000	D	0.99495	0.9820	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.964;0.995	D	0.98052	1.0388	10	0.87932	D	0	.	15.9185	0.79542	1.0:0.0:0.0:0.0	.	386;386	Q13161;Q13873	.;BMPR2_HUMAN	G	386	ENSP00000363708:E386G;ENSP00000363702:E386G	ENSP00000363702:E386G	E	+	2	0	BMPR2	203105581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.024000	0.93689	2.228000	0.72767	0.533000	0.62120	GAA		0.383	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		G	203397336	A	G	203397336	3	3	199	1	0	0	0	0	1	0	0	0	1471	246	9	4	1191	4	BMPR2	2	203397336	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	15173370	203397336	39802037	8	14009											
SCG2	7857	broad.mit.edu	37	chr2	224463759	224463759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggacagagacaccttggTagggattataatctgggctg	10	9	16	6	0	1	1	0	0	1	1	1	4	1	3	1	5	0	2	1	5	3	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:224463759T>C	ENST00000305409.2	-	2	474	c.242A>G	c.(241-243)tAc>tGc	p.Y81C		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACACCTTGGTAGGGATTATA	0.448																																						uc021vxk.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(241-243)tAc>tGc		Homo sapiens secretogranin II (SCG2), mRNA.							118	123	121					2																	224463759		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463759T>C	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.242A>G	2.37:g.224463759T>C	ENSP00000304133:p.Tyr81Cys					SCG2_uc002vnm.3_Missense_Mutation_p.Y81C	p.Y81C	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	0	242	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	81					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.242A>G	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105545	0.37145	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.01933	4.55;4.55;4.55	5.44	2.86	0.33363	.	0.382752	0.27941	N	0.017231	T	0.04998	0.0134	L	0.50333	1.59	0.34978	D	0.753845	D	0.61697	0.99	P	0.53988	0.739	T	0.35674	-0.9779	10	0.87932	D	0	.	7.762	0.28957	0.2293:0.0:0.1222:0.6485	.	81	P13521	SCG2_HUMAN	C	81	ENSP00000304133:Y81C;ENSP00000394702:Y81C;ENSP00000415468:Y81C	ENSP00000304133:Y81C	Y	-	2	0	SCG2	224172003	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	2.289000	0.43523	0.982000	0.38575	0.477000	0.44152	TAC		0.448	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		C	224463759	T	C	224463759	3	2	199	1	0	0	0	0	1	0	0	0	13891	1638	57	4	1615	4	SCG2	2	224463759	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	21066423	224463759	18735614	9	14010											
OR5K4	403278	broad.mit.edu	37	chr3	98072818	98072818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctatctggtcaccatggtgGggaatcttggtctggtggca	6	13	14	8	0	5	0	1	0	4	0	5	1	5	1	1	7	0	1	1	7	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr3:98072818G>A	ENST00000354924.2	+	1	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41W(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CACCATGGTGGGGAATCTTGG	0.458																																						uc011bgv.2																			1	Substitution - Missense(1)	p.G41W(2)|p.V40V(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(121-123)Ggg>Agg		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.							246	239	241					3																	98072818		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072818G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.121G>A	3.37:g.98072818G>A	ENSP00000347003:p.Gly41Arg						p.G41R	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			0	121	+			41						Missense_Mutation	SNP	ENST00000354924.2	37	c.121G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672977	0.67928	.	.	ENSG00000196098	ENST00000354924	T	0.04406	3.63	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33217	U	0.005147	T	0.29458	0.0734	M	0.92412	3.305	0.35981	D	0.836026	D	0.89917	1.0	D	0.97110	1.0	T	0.50030	-0.8875	10	0.87932	D	0	-13.4154	15.6545	0.77124	0.0:0.0:1.0:0.0	.	41	A6NMS3	OR5K4_HUMAN	R	41	ENSP00000347003:G41R	ENSP00000347003:G41R	G	+	1	0	OR5K4	99555508	0.915000	0.31059	1.000000	0.80357	0.828000	0.46876	3.370000	0.52372	2.618000	0.88619	0.603000	0.83216	GGG		0.458	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			A	98072818	G	A	98072818	3	1	199	1	0	0	0	0	1	0	0	0	11169	1232	43	3	123	3	OR5K4	3	98072818	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		98072818	99949612	10	14011											
ADAM29	11086	broad.mit.edu	37	chr4	175897608	175897608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaatgtgtacaccacaccGtagttgtgcaattgttactt	11	13	9	8	1	0	0	0	0	0	0	0	1	0	1	2	1	3	5	2	1	5	6			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr4:175897608G>A	ENST00000359240.3	+	5	1602	c.932G>A	c.(931-933)cGt>cAt	p.R311H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.R311H|ADAM29_ENST00000445694.1_Missense_Mutation_p.R311H|ADAM29_ENST00000404450.4_Missense_Mutation_p.R311H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	311	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCACACCGTAGTTGTGCA	0.428																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(931-933)cGt>cAt		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							154	152	153					4																	175897608		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897608G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.932G>A	4.37:g.175897608G>A	ENSP00000352177:p.Arg311His					ADAM29_uc003iud.3_Missense_Mutation_p.R311H|ADAM29_uc010irr.3_Missense_Mutation_p.R311H|ADAM29_uc011cki.2_Missense_Mutation_p.R311H|ADAM29_uc021xuo.1_Missense_Mutation_p.R311H	p.R311H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1602	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	311			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.932G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	3.760	-0.049886	0.07407	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.23	-8.45	0.00946	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	7.522170	0.00520	U	0.000190	T	0.07728	0.0194	L	0.37697	1.125	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.15896	-1.0421	9	.	.	.	.	6.2556	0.20872	0.1744:0.0:0.3164:0.5092	.	311	Q9UKF5	ADA29_HUMAN	H	311	ENSP00000352177:R311H;ENSP00000414544:R311H;ENSP00000384229:R311H;ENSP00000423517:R311H	.	R	+	2	0	ADAM29	176134183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.746000	0.00377	-2.599000	0.00452	-0.183000	0.12914	CGT		0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175897608	G	A	175897608	3	1	199	1	0	0	0	0	1	0	0	0	247	1145	40	1	934	1	ADAM29	4	175897608	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		175897608	15256668	11	14012											
SLC6A3	6531	broad.mit.edu	37	chr5	1409844	1409844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtacgtacgttggtgaCgcagaacagggacaggagga	12	6	17	6	3	0	2	0	1	0	1	0	6	0	5	0	5	3	4	0	5	3	3	rs140401978	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:1409844C>T	ENST00000270349.9	-	10	1517	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V464I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	464					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACGTTGGTGACGCAGAACAGG	0.612																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1390-1392)Gtc>Atc		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	197	144	162		1390	4.2	1	5	dbSNP_134	162	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLC6A3	NM_001044.4	29	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	possibly-damaging	464/621	1409844	7,12999	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409844C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1390G>A	5.37:g.1409844C>T	ENSP00000270349:p.Val464Ile						p.V464I	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		9	1516	-			464					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1390G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710204	0.30322	4.54E-4	5.81E-4	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	L	0.33753	1.03	0.58432	D	0.999992	P	0.44478	0.836	B	0.42112	0.376	T	0.62732	-0.6792	10	0.02654	T	1	.	14.0096	0.64488	0.0:1.0:0.0:0.0	.	464	Q01959	SC6A3_HUMAN	I	464	ENSP00000270349:V464I;ENSP00000399806:V464I	ENSP00000270349:V464I	V	-	1	0	SLC6A3	1462844	0.998000	0.40836	0.986000	0.45419	0.454000	0.32378	3.358000	0.52284	1.880000	0.54463	0.478000	0.44815	GTC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		T	1409844	C	T	1409844	3	4	199	1	0	0	0	0	1	0	0	0	14685	536	19	1	496	1	SLC6A3	5	1409844	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		1409844	179505416	12	14013											
ZFYVE16	9765	broad.mit.edu	37	chr5	79768699	79768699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagacctgagagaatacGtggatatctgctgggtagat	12	10	13	6	1	1	4	0	1	1	3	1	6	1	5	1	2	2	3	1	2	5	4	rs550518358		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:79768699G>A	ENST00000338008.5	+	15	4324	c.4144G>A	c.(4144-4146)Gtg>Atg	p.V1382M	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V1382M|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V1382M	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1382					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GAGAGAATACGTGGATATCTG	0.368													G|||	1	0.000199681	0	0	5008	,	,		16373	0		0	False		,,,				2504	0.001				Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.4																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4144-4146)Gtg>Atg		Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.							88	89	89					5																	79768699		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79768699G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4144G>A	5.37:g.79768699G>A	ENSP00000337159:p.Val1382Met					ZFYVE16_uc003kgq.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgs.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgt.4_Missense_Mutation_p.V470M|ZFYVE16_uc003kgu.4_Missense_Mutation_p.V134M	p.V1382M	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	15	4446	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1382					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.4144G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789294	0.90367	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.62105	0.05;0.05;0.05	5.74	5.74	0.90152	Domain of unknown function DUF3480 (1);	0.000000	0.50627	D	0.000117	T	0.81513	0.4838	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.82926	-0.0215	10	0.72032	D	0.01	-9.9247	19.5301	0.95225	0.0:0.0:1.0:0.0	.	192;1382	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	M	1382	ENSP00000337159:V1382M;ENSP00000423663:V1382M;ENSP00000426848:V1382M	ENSP00000337159:V1382M	V	+	1	0	ZFYVE16	79804455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.774000	0.91767	2.703000	0.92315	0.655000	0.94253	GTG		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		A	79768699	G	A	79768699	3	1	199	1	0	0	0	0	1	0	0	0	17661	1145	40	1	4198	1	ZFYVE16	5	79768699	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	78358855	79768699	101146561	13	14014											
ACOT12	134526	broad.mit.edu	37	chr5	80643625	80643625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccactgtctccatccaCgccataatctggccaccaaa	11	8	6	16	1	2	0	0	0	2	0	4	0	3	0	6	1	1	1	6	1	3	2	rs150238683	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:80643625C>T	ENST00000307624.3	-	6	649	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	207	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCTCCATCCACGCCATAATCT	0.502																																						uc003khl.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(619-621)gcG>gcA		Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.							245	240	242					5																	80643625		2203	4300	6503	SO:0001819	synonymous_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643625C>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.621G>A	5.37:g.80643625C>T						RNU5E-1_uc011cto.1_Intron	p.A207A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	5	676	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	207			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	c.621G>A	CCDS4055.1																																																																																				0.502	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		T	80643625	C	T	80643625	2	4	199	1	0	0	0	0	0	0	0	1	150	523	19	1		1	ACOT12	5	80643625	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	874926	80643625	100271635	14	14015											
PCSK1	5122	broad.mit.edu	37	chr5	95735874	95735874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgctgcatatctcGccaggtgagatttgggctgg	8	10	14	9	1	1	1	0	1	1	1	2	2	1	1	2	4	3	3	2	4	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:95735874G>A	ENST00000311106.3	-	10	1450	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.R358*|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	405	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGCATATCTCGCCAGGTGAGA	0.478																																						uc003kls.2																			0		p.R405Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1213-1215)Cga>Tga		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						86	83	84					5																	95735874		2203	4300	6503	SO:0001587	stop_gained	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735874G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1213C>T	5.37:g.95735874G>A	ENSP00000308024:p.Arg405*					PCSK1_uc010jbi.2_Nonsense_Mutation_p.R95*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.R358*	p.R405*	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1452	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	405			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Nonsense_Mutation	SNP	ENST00000311106.3	37	c.1213C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	38	6.877188	0.97904	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	5.24	-5.3	0.02738	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0388	20.1194	0.97954	0.0:0.0:0.1446:0.8554	.	.	.	.	X	405;358	.	ENSP00000308024:R405X	R	-	1	2	PCSK1	95761630	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	0.721000	0.25911	-0.611000	0.05709	-0.321000	0.08615	CGA		0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		A	95735874	G	A	95735874	4	1	199	1	0	0	0	0	0	1	0	0	11600	1095	38	1	1068	1	PCSK1	5	95735874	Nonsense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	15092249	95735874	85179386	15	14016											
PCDHA9	9752	broad.mit.edu	37	chr5	140230084	140230084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccactgtgctggtgtcGctggtggagagcggccaggc	5	7	18	11	3	0	1	0	0	0	1	1	2	0	1	2	6	2	2	2	6	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140230084G>A	ENST00000532602.1	+	1	3037	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S668S|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGTCGCTGGTGGAGA	0.677																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2002-2004)tcG>tcA		Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.							43	47	46					5																	140230084		2197	4267	6464	SO:0001819	synonymous_variant	9752				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140230084G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2004G>A	5.37:g.140230084G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S668S	p.S668S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2728	+			679			Cadherin 6.		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2004G>A	CCDS54920.1																																																																																				0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140230084	G	A	140230084	2	1	199	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA9	5	140230084	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	44494210	140230084	40685176	16	14017											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811313	140811313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgcaggatattctgcGcgagccaaagtcctgatcac	12	9	10	10	2	2	1	1	1	1	0	3	4	3	2	2	1	3	1	2	1	3	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512																																						uc003lkt.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(985-987)gcG>gcA		Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.							136	126	129					5																	140811313		2203	4300	6503	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811313G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.987G>A	5.37:g.140811313G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.A329A	p.A329A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1156	+			332			Cadherin 3.		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.987G>A	CCDS4260.1																																																																																				0.512	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		A	140811313	G	A	140811313	2	1	199	1	0	0	0	0	0	0	0	1	11553	1074	38	1		1	PCDHGA12	5	140811313	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	581229	140811313	40103947	17	14018											
FAM50B	26240	broad.mit.edu	37	chr6	3850733	3850733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctggagctgcgctccGccggcgtggagcagctcatg	5	8	14	14	4	1	0	1	0	0	0	3	2	3	2	3	3	4	4	3	3	0	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:3850733G>A	ENST00000380274.1	+	1	1114	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	FAM50B_ENST00000380272.3_Missense_Mutation_p.A230T			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCTGCGCTCCGCCGGCGTGGA	0.652																																						uc003mvu.3																			0		p.A230A(1)|p.S229F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(688-690)Gcc>Acc		Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.							52	49	50					6																	3850733		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850733G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.688G>A	6.37:g.3850733G>A	ENSP00000369627:p.Ala230Thr					FAM50B_uc021ykt.1_Missense_Mutation_p.A230T	p.A230T	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			1	800	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	230					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.688G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086290	0.55861	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	4.34	0.51931	.	0.059829	0.64402	D	0.000004	T	0.34629	0.0904	L	0.39147	1.195	0.48288	D	0.999625	P	0.37101	0.582	B	0.32805	0.153	T	0.43956	-0.9359	9	0.51188	T	0.08	-24.7751	14.8117	0.70000	0.0:0.0:1.0:0.0	.	230	Q9Y247	FA50B_HUMAN	T	230	.	ENSP00000369625:A230T	A	+	1	0	FAM50B	3795732	1.000000	0.71417	0.025000	0.17156	0.987000	0.75469	7.502000	0.81614	2.430000	0.82344	0.555000	0.69702	GCC		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		A	3850733	G	A	3850733	3	1	199	1	0	0	0	0	1	0	0	0	5578	1087	38	1	690	1	FAM50B	6	3850733	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		3850733	167264334	18	14019											
GPX5	2880	broad.mit.edu	37	chr6	28497327	28497327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagtatgtgggcaagCacatcctcttcgtcaacgtg	10	10	10	11	2	3	0	2	0	1	0	5	0	4	0	1	1	3	4	1	1	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:28497327C>T	ENST00000412168.2	+	2	276	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	GPX5_ENST00000469384.1_Missense_Mutation_p.H63Y|GPX5_ENST00000442674.2_3'UTR|GPX6_ENST00000483058.1_5'Flank	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	63					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTGGGCAAGCACATCCTCTT	0.443																																						uc003nll.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(187-189)Cac>Tac		Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	Glutathione(DB00143)						163	129	141					6																	28497327		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497327C>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.187C>T	6.37:g.28497327C>T	ENSP00000392398:p.His63Tyr					GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_Non-coding_Transcript	p.H63Y	NM_001509	NP_001500	O75715	GPX5_HUMAN			1	189	+			63					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.187C>T	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	2.902	-0.227358	0.06022	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03689	3.84;3.84	3.72	2.79	0.32731	Thioredoxin-like fold (2);	0.951278	0.08804	N	0.891268	T	0.01124	0.0037	L	0.32530	0.975	0.32937	D	0.517898	B;B	0.25272	0.122;0.003	B;B	0.24974	0.057;0.017	T	0.44112	-0.9349	10	0.28530	T	0.3	-8.766	5.2416	0.15475	0.0:0.7205:0.0:0.2795	.	63;63	A1A4Y0;O75715	.;GPX5_HUMAN	Y	63	ENSP00000392398:H63Y;ENSP00000419935:H63Y	ENSP00000392398:H63Y	H	+	1	0	GPX5	28605306	0.006000	0.16342	0.893000	0.35052	0.600000	0.36913	0.096000	0.15147	1.028000	0.39785	0.655000	0.94253	CAC		0.443	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			T	28497327	C	T	28497327	3	4	199	1	0	0	0	0	1	0	0	0	6743	710	25	3	193	3	GPX5	6	28497327	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	24646594	28497327	142617740	19	14020											
DNAH11	8701	broad.mit.edu	37	chr7	21658736	21658736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtcaagtttttaataaatGaagccacaactttggcagat	15	12	8	6	0	1	2	1	1	0	1	1	2	1	2	1	2	2	2	1	2	6	5			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:21658736G>A	ENST00000409508.3	+	24	4304	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.E1430K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1430	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAATAAATGAAGCCACAAC	0.418									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4288-4290)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							58	57	57					7																	21658736		1846	4099	5945	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21658736G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4273G>A	7.37:g.21658736G>A	ENSP00000475939:p.Glu1425Lys						p.E1430K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			23	4319	+			1430			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4288G>A		.	.	.	.	.	.	.	.	.	.	G	15.48	2.846801	0.51164	.	.	ENSG00000105877	ENST00000328843	T	0.61980	0.06	5.63	5.63	0.86233	Dynein heavy chain, domain-2 (1);	0.115969	0.64402	D	0.000013	T	0.55321	0.1913	.	.	.	0.54753	D	0.999988	B	0.19200	0.034	B	0.24394	0.053	T	0.47142	-0.9140	9	0.25106	T	0.35	.	19.6898	0.95996	0.0:0.0:1.0:0.0	.	1430	Q96DT5	DYH11_HUMAN	K	1430	ENSP00000330671:E1430K	ENSP00000330671:E1430K	E	+	1	0	DNAH11	21625261	1.000000	0.71417	0.391000	0.26233	0.901000	0.52897	6.174000	0.71943	2.669000	0.90835	0.655000	0.94253	GAA		0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21658736	G	A	21658736	3	1	199	1	0	0	0	0	1	0	0	0	4599	1291	45	3	4382	3	DNAH11	7	21658736	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		21658736	137479927	20	14021											
EGFR	1956	broad.mit.edu	37	chr7	55211079	55211079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaacctgcagatcatcAgaggaaatatgtactacgaa	17	8	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55211079A>G	ENST00000275493.2	+	3	499	c.322A>G	c.(322-324)Aga>Gga	p.R108G	EGFR_ENST00000342916.3_Missense_Mutation_p.R108G|EGFR_ENST00000344576.2_Missense_Mutation_p.R108G|EGFR_ENST00000420316.2_Missense_Mutation_p.R108G|EGFR_ENST00000454757.2_Missense_Mutation_p.R55G|EGFR_ENST00000455089.1_Missense_Mutation_p.R108G|EGFR_ENST00000442591.1_Missense_Mutation_p.R108G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCAGATCATCAGAGGAAATAT	0.418		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.R108K(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)Aga>Gga		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	118	118					7																	55211079		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211079A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.322A>G	7.37:g.55211079A>G	ENSP00000275493:p.Arg108Gly	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108G|EGFR_uc003tqi.3_Missense_Mutation_p.R108G|EGFR_uc003tqj.3_Missense_Mutation_p.R108G|EGFR_uc022adm.1_Missense_Mutation_p.R108G|EGFR_uc010kzg.2_Missense_Mutation_p.R108G|EGFR_uc022adn.1_Missense_Mutation_p.R108G|EGFR_uc011kco.2_Missense_Mutation_p.R55G	p.R108G	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	568	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.322A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489576	0.84962	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.31	-7.85	0.01192	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	M	0.89785	3.06	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88839	0.3311	10	0.72032	D	0.01	.	24.4066	0.99990	0.1445:0.8555:0.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	G	108;108;108;108;108;108;55;55	ENSP00000415559:R108G;ENSP00000342376:R108G;ENSP00000345973:R108G;ENSP00000413843:R108G;ENSP00000275493:R108G;ENSP00000410031:R108G;ENSP00000413354:R55G;ENSP00000395243:R55G	ENSP00000275493:R108G	R	+	1	2	EGFR	55178573	0.535000	0.26370	0.744000	0.31058	0.954000	0.61252	0.221000	0.17680	-0.972000	0.03559	0.533000	0.62120	AGA		0.418	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55211079	A	G	55211079	3	3	199	1	0	0	0	0	1	0	0	0	4967	180	7	4	332	4	EGFR	7	55211079	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	33552343	55211079	103927584	21	14022											
EGFR	1956	broad.mit.edu	37	chr7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattatgtggtgacagatCacggctcgtgcgtccgagcc	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55223543C>T	ENST00000275493.2	+	8	1087	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_ENST00000342916.3_Missense_Mutation_p.H304Y|EGFR_ENST00000344576.2_Missense_Mutation_p.H304Y|EGFR_ENST00000420316.2_Missense_Mutation_p.H304Y|EGFR_ENST00000454757.2_Missense_Mutation_p.H251Y|EGFR_ENST00000455089.1_Missense_Mutation_p.H259Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H304Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(910-912)Cac>Tac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66	61	62					7																	55223543		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223543C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.910C>T	7.37:g.55223543C>T	ENSP00000275493:p.His304Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.H304Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		304					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.910C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802534	0.16397	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.82923	2.615	0.80722	D	1	B;B;B;B;B	0.33288	0.003;0.001;0.406;0.065;0.047	B;B;B;B;B	0.30316	0.005;0.01;0.114;0.024;0.056	T	0.64279	-0.6445	10	0.02654	T	1	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	259;304;304;304;304	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	259;304;174;304;304;304;304;251;98	ENSP00000415559:H259Y;ENSP00000342376:H304Y;ENSP00000345973:H304Y;ENSP00000413843:H304Y;ENSP00000275493:H304Y;ENSP00000410031:H304Y;ENSP00000395243:H251Y	ENSP00000275493:H304Y	H	+	1	0	EGFR	55191037	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.344000	0.52174	2.655000	0.90218	0.655000	0.94253	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55223543	C	T	55223543	3	4	199	1	0	0	0	0	1	0	0	0	4967	826	29	3	940	3	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	12464	55223543	103915120	22	14023											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	199	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	9500	55233043	103905620	23	14024											
PCLO	27445	broad.mit.edu	37	chr7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttttttgtgactcGggctactgtcactgtcctca	4	17	7	13	1	3	1	2	1	1	0	7	1	5	1	2	1	1	1	2	1	1	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:82585035G>A	ENST00000333891.9	-	5	5571	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1745L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTGACTCGGGCTACTGTC	0.488																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5233-5235)cCg>cTg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							149	140	143					7																	82585035		1996	4194	6190	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585035G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5234C>T	7.37:g.82585035G>A	ENSP00000334319:p.Pro1745Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1745L	p.P1745L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	5523	-			1676						Missense_Mutation	SNP	ENST00000333891.9	37	c.5234C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080258	0.36662	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.67345	-0.26;-0.21	5.56	5.56	0.83823	.	.	.	.	.	T	0.73171	0.3553	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77270	-0.2650	9	0.87932	D	0	.	19.5248	0.95199	0.0:0.0:1.0:0.0	.	1745;1745	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1676;1745;1745	ENSP00000334319:P1745L;ENSP00000388393:P1745L	ENSP00000334319:P1745L	P	-	2	0	PCLO	82422971	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.835000	0.99442	2.624000	0.88883	0.650000	0.86243	CCG		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82585035	G	A	82585035	3	1	199	1	0	0	0	0	1	0	0	0	11583	1116	39	2	10295	2	PCLO	7	82585035	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	27351992	82585035	76553628	24	14025											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442583	95442583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacccctatgtctccctcctCgaaatcagtgagcactccca	10	9	5	17	1	2	1	1	1	1	0	6	2	4	1	5	0	2	1	5	0	3	1	rs532833915		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:95442583C>T	ENST00000324972.6	+	4	492	c.299C>T	c.(298-300)tCg>tTg	p.S100L	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S83L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S83L|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.S83L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S100L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S83L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S83L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	100	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTCCCTCCTCGAAATCAGTG	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		16445	0		0	False		,,,				2504	0					uc003uoc.4																			0		p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(298-300)tCg>tTg		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							98	97	98					7																	95442583		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442583C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.299C>T	7.37:g.95442583C>T	ENSP00000320130:p.Ser100Leu					DYNC1I1_uc003uod.4_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.S89L	p.S100L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		3	576	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		100			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.299C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937718	0.73557	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T	0.75367	-0.67;-0.7;-0.93;-0.68;-0.71;-0.67	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000015	T	0.67767	0.2928	L	0.54323	1.7	0.40586	D	0.981442	B;B;B;B;P	0.45768	0.308;0.175;0.434;0.109;0.866	B;B;B;B;B	0.39258	0.043;0.063;0.093;0.029;0.295	T	0.67074	-0.5762	10	0.09084	T	0.74	-4.3131	18.8307	0.92137	0.0:1.0:0.0:0.0	.	83;100;83;100;83	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	83;83;100;83;100;83;83;83;83	ENSP00000392337:S83L;ENSP00000320130:S100L;ENSP00000438377:S83L;ENSP00000398118:S100L;ENSP00000352348:S83L;ENSP00000412444:S83L	ENSP00000320130:S100L	S	+	2	0	DYNC1I1	95280519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.826000	0.69293	2.861000	0.98227	0.655000	0.94253	TCG		0.468	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95442583	C	T	95442583	3	4	199	1	0	0	0	0	1	0	0	0	4842	893	31	2	309	2	DYNC1I1	7	95442583	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	12857548	95442583	63696080	25	14026											
OR2A7	401427	broad.mit.edu	37	chr7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgaatccttgggccaaCgggaaatcccagtaggagga	12	7	12	10	1	1	1	0	1	1	0	3	4	3	4	3	4	1	1	3	4	4	2	rs531461622		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:143956670C>T	ENST00000493325.1	-	1	145	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													c|||	1	0.000199681	8e-04	0	5008	,	,		31715	0		0	False		,,,				2504	0					uc011kuc.2																			0		p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(52-54)Gtt>Att		Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.							100	128	118					7																	143956670		2201	4297	6498	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956670C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.52G>A	7.37:g.143956670C>T	ENSP00000420502:p.Val18Ile					OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	p.V18I	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			0	52	-	Melanoma(164;0.14)		18					B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.52G>A	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	c	0.608	-0.826223	0.02734	.	.	ENSG00000243896	ENST00000493325	T	0.00433	7.43	3.21	-3.87	0.04218	.	.	.	.	.	T	0.00178	0.0005	N	0.04245	-0.25	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20273	-1.0280	9	0.39692	T	0.17	.	4.6601	0.12637	0.0891:0.4935:0.1752:0.2422	.	18	Q96R45	OR2A7_HUMAN	I	18	ENSP00000420502:V18I	ENSP00000420502:V18I	V	-	1	0	OR2A7	143587603	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.569000	0.00915	-0.991000	0.03476	-1.490000	0.00973	GTT		0.498	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			T	143956670	C	T	143956670	3	4	199	1	0	0	0	0	1	0	0	0	10982	536	19	1	883	1	OR2A7	7	143956670	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	48514087	143956670	15181993	26	14027											
MTUS1	57509	broad.mit.edu	37	chr8	17503489	17503489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaattccttggtgactgCaaagggatggcggaggatgt	9	9	15	8	2	0	1	0	1	0	0	1	5	1	4	2	5	1	1	2	5	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:17503489C>A	ENST00000262102.6	-	15	3983	c.3759G>T	c.(3757-3759)ttG>ttT	p.L1253F	MTUS1_ENST00000381861.3_Missense_Mutation_p.L500F|MTUS1_ENST00000544260.1_Missense_Mutation_p.L398F|MTUS1_ENST00000519263.1_Missense_Mutation_p.L1199F|MTUS1_ENST00000297488.6_Missense_Mutation_p.L419F|MTUS1_ENST00000381869.3_Missense_Mutation_p.L1199F|MTUS1_ENST00000400046.1_Missense_Mutation_p.L325F	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1253					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTGGTGACTGCAAAGGGATGG	0.537																																						uc003wxv.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(3757-3759)ttG>ttT		Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.							61	65	64					8																	17503489		1919	4139	6058	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17503489C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3759G>T	8.37:g.17503489C>A	ENSP00000262102:p.Leu1253Phe					MTUS1_uc003wxt.3_Missense_Mutation_p.L500F|MTUS1_uc011kyg.2_Missense_Mutation_p.L398F|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.L1199F|MTUS1_uc003wxs.3_Missense_Mutation_p.L419F	p.L1253F	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	14	4233	-			1253					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.3759G>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.135973	0.01742	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.19394	3.18;2.41;2.15;2.4;2.41;3.19;3.18	4.55	-3.56	0.04626	.	0.299159	0.38605	N	0.001632	T	0.04861	0.0131	N	0.02368	-0.58	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.13407	0.002;0.002;0.009;0.002	T	0.44205	-0.9343	10	0.02654	T	1	-2.8647	6.7876	0.23682	0.3058:0.3088:0.3854:0.0	.	1199;1253;500;419	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	F	1199;398;325;419;500;1253;1199	ENSP00000371293:L1199F;ENSP00000445738:L398F;ENSP00000382921:L325F;ENSP00000297488:L419F;ENSP00000371285:L500F;ENSP00000262102:L1253F;ENSP00000430167:L1199F	ENSP00000262102:L1253F	L	-	3	2	MTUS1	17547769	1.000000	0.71417	0.872000	0.34217	0.356000	0.29392	1.299000	0.33424	-0.720000	0.04935	-0.128000	0.14901	TTG		0.537	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17503489	C	A	17503489	3	1	199	1	0	0	0	0	1	0	0	0	9965	709	25	5	57	5	MTUS1	8	17503489	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		17503489	128860533	27	14028											
TG	7038	broad.mit.edu	37	chr8	133925395	133925395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgttcccagcggaaacCatccgcttcctccaagggga	11	6	10	14	3	0	1	0	0	0	1	4	3	4	3	5	3	2	2	5	3	3	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:133925395C>T	ENST00000220616.4	+	20	4303	c.4263C>T	c.(4261-4263)acC>acT	p.T1421T	TG_ENST00000377869.1_Silent_p.T1421T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1421					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCGGAAACCATCCGCTTCC	0.562																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4261-4263)acC>acT		Homo sapiens thyroglobulin (TG), mRNA.							114	93	100					8																	133925395		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925395C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4263C>T	8.37:g.133925395C>T						TG_uc010mdw.3_Silent_p.T180T	p.T1421T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4304	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1421					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4263C>T	CCDS34944.1																																																																																				0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133925395	C	T	133925395	2	4	199	1	0	0	0	0	0	0	0	1	15810	581	21	3		3	TG	8	133925395	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	116421906	133925395	12438627	28	14029											
AKNA	80709	broad.mit.edu	37	chr9	117099371	117099371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaggctgtgagcctggCgcaggtcggctgacagcgag	6	5	17	13	4	0	2	0	2	0	0	1	3	0	2	2	4	2	4	2	4	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr9:117099371C>T	ENST00000307564.4	-	22	4444	c.4283G>A	c.(4282-4284)cGc>cAc	p.R1428H	AKNA_ENST00000223791.3_Missense_Mutation_p.R888H|AKNA_ENST00000374079.4_Missense_Mutation_p.R373H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.R1428H|AKNA_ENST00000374075.5_Missense_Mutation_p.R1347H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1428					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGAGCCTGGCGCAGGTCGGC	0.682																																						uc004biq.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4282-4284)cGc>cAc		Homo sapiens AT-hook transcription factor (AKNA), mRNA.							10	13	12					9																	117099371		2196	4292	6488	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099371C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4283G>A	9.37:g.117099371C>T	ENSP00000303769:p.Arg1428His					AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H	p.R1428H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			20	4418	-			1428					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4283G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311895	0.60414	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.18960	2.65;2.18;2.65;2.43;2.65	5.26	1.95	0.26073	.	.	.	.	.	T	0.10508	0.0257	N	0.14661	0.345	0.31438	N	0.672283	B;B	0.25169	0.072;0.119	B;B	0.16722	0.007;0.016	T	0.17198	-1.0377	9	0.36615	T	0.2	13.0897	5.5756	0.17220	0.0:0.6027:0.0:0.3973	.	1428;1347	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	H	1428;373;1428;888;1347	ENSP00000303769:R1428H;ENSP00000363192:R373H;ENSP00000363201:R1428H;ENSP00000223791:R888H;ENSP00000363188:R1347H	ENSP00000223791:R888H	R	-	2	0	AKNA	116139192	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.816000	0.38992	0.546000	0.28920	0.655000	0.94253	CGC		0.682	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117099371	C	T	117099371	3	4	199	1	0	0	0	0	1	0	0	0	463	768	27	1	40	1	AKNA	9	117099371	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		117099371	24114060	29	14030											
ALX4	60529	broad.mit.edu	37	chr11	44297101	44297101	+	Frame_Shift_Del	DEL	C	C	-																															gaggtctgagctggcccggtCctggggccccttcaccccag																										TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:44297101delC	ENST00000329255.3	-	2	677	c.574delG	c.(574-576)gacfs	p.D192fs		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	192					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGGCCCGGTCCTGGGGCCCC	0.632																																						uc001myb.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(574-576)gacfs		Homo sapiens ALX homeobox 4 (ALX4), mRNA.							77	85	82					11																	44297101		2203	4299	6502	SO:0001589	frameshift_variant	60529				hair follicle development			g.chr11:44297101delC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.574delG	11.37:g.44297101delC	ENSP00000332744:p.Asp192fs						p.D192fs	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			1	678	-			192					Q96JN7|Q9H198|Q9HAY9	Frame_Shift_Del	DEL	ENST00000329255.3	37	c.574delG	CCDS31468.1																																																																																				0.632	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			-	44297101	C	-	44297101	7	5	199	1	0	1	0	1	0	0	0	0	558	855	30	0	673	0	ALX4	11	44297101	Frame_Shift_Del	DEL	C	TCGA-28-1747-01C-01D-1494-08		44297101	90709415	30	14031											
NCAM1	4684	broad.mit.edu	37	chr11	113076266	113076266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcatgttcaagaatgCgccaaccccacaggagttcc	12	7	9	13	1	2	1	2	0	0	1	3	3	3	2	4	1	3	3	4	1	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:113076266C>T	ENST00000533760.1	+	4	613	c.14C>T	c.(13-15)gCg>gTg	p.A5V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A122V|NCAM1_ENST00000316851.7_Missense_Mutation_p.A113V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	123					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTCAAGAATGCGCCAACCCCA	0.522																																						uc021qqp.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(361-363)gCg>gTg		Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.							88	90	89					11																	113076266		1988	4147	6135	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076266C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.14C>T	11.37:g.113076266C>T	ENSP00000473281:p.Ala5Val					NCAM1_uc001pno.3_Missense_Mutation_p.A5V|NCAM1_uc001pnp.3_Missense_Mutation_p.A121V|NCAM1_uc021qqo.1_Missense_Mutation_p.A121V|NCAM1_uc001pnq.3_Missense_Mutation_p.A121V|NCAM1_uc001pnr.3_Missense_Mutation_p.A121V	p.A121V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	3	734	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	123			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.362C>T		.	.	.	.	.	.	.	.	.	.	C	18.54	3.645485	0.67358	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.66815	-0.23;-0.23	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	.	.	.	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.995;0.996;0.996;0.995	P;P;P;P;P	0.56514	0.8;0.539;0.596;0.742;0.539	T	0.69442	-0.5144	9	0.21540	T	0.41	-29.1336	19.8991	0.96978	0.0:1.0:0.0:0.0	.	123;123;123;123;123	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	5;122;113	ENSP00000384055:A122V;ENSP00000318472:A113V	ENSP00000318472:A113V	A	+	2	0	NCAM1	112581476	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.731000	0.84895	2.708000	0.92522	0.655000	0.94253	GCG		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		T	113076266	C	T	113076266	3	4	199	1	0	0	0	0	1	0	0	0	10202	768	27	1	383	1	NCAM1	11	113076266	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	68779165	113076266	21930250	31	14032											
FAM55A	120400	broad.mit.edu	37	chr11	114400948	114400948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagatacctctctattcCgggtggtcatgtaggtcaga	10	12	11	8	1	3	2	2	0	1	2	5	3	4	2	2	3	1	1	2	3	4	5	rs150857743	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:114400948C>T	ENST00000424269.1	-	2	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	NXPE1_ENST00000251921.2_Missense_Mutation_p.R119Q|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.R261Q|snoU13_ENST00000459372.1_RNA			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	261						extracellular region (GO:0005576)											CTCTCTATTCCGGGTGGTCAT	0.458																																						uc001ppa.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17						c.(355-357)cGg>cAg		Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.		C	GLN/ARG	3,4399	6.2+/-15.9	0,3,2198	88	89	89		356	-8.6	0	11	dbSNP_134	89	0,8592		0,0,4296	yes	missense	FAM55A	NM_152315.2	43	0,3,6494	TT,TC,CC		0.0,0.0682,0.0231	benign	119/406	114400948	3,12991	2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114400948C>T	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.782G>A	11.37:g.114400948C>T	ENSP00000411690:p.Arg261Gln					FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q	p.R119Q	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	2	773	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	261					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.356G>A		.	.	.	.	.	.	.	.	.	.	C	6.075	0.382052	0.11524	6.82E-4	0.0	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.45276	2.55;2.76;0.9	4.29	-8.59	0.00893	.	0.714147	0.12843	N	0.434605	T	0.28067	0.0692	L	0.60455	1.87	0.09310	N	1	B	0.22211	0.066	B	0.16289	0.015	T	0.15321	-1.0441	10	0.12430	T	0.62	.	9.7256	0.40330	0.2519:0.108:0.0:0.6402	.	261	F5H6W7	.	Q	119;261;261	ENSP00000251921:R119Q;ENSP00000411690:R261Q;ENSP00000442984:R261Q	ENSP00000251921:R119Q	R	-	2	0	FAM55A	113906158	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.853000	0.01666	-3.307000	0.00191	-0.812000	0.03155	CGG		0.458	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		T	114400948	C	T	114400948	3	4	199	1	0	0	0	0	1	0	0	0	5584	652	23	2	877	2	FAM55A	11	114400948	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	1324682	114400948	20605568	32	14033											
CD163L1	283316	broad.mit.edu	37	chr12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagcacacagaattcccaCggcaccctggacattcacct	12	8	6	15	1	1	1	1	0	0	1	2	2	2	2	3	2	1	2	3	2	2	3	rs200380158		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:7531814C>T	ENST00000313599.3	-	9	2188	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	CD163L1_ENST00000416109.2_Missense_Mutation_p.V721M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V711M|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	711	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													C|||	1	0.000199681	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0					uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2161-2163)Gtg>Atg		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							124	97	106					12																	7531814		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531814C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2131G>A	12.37:g.7531814C>T	ENSP00000315945:p.Val711Met					CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	p.V721M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			8	2187	-			711			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2161G>A	CCDS8577.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.658	0.489995	0.12702	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.380520	0.03455	N	0.211262	T	0.26774	0.0655	N	0.14661	0.345	0.09310	N	1	P;P	0.49961	0.93;0.786	P;P	0.47705	0.555;0.555	T	0.50329	-0.8841	10	0.87932	D	0	.	6.254	0.20864	0.399:0.4627:0.0:0.1383	.	721;711	E7EVK4;Q9NR16	.;C163B_HUMAN	M	711;721;711	ENSP00000315945:V711M;ENSP00000393474:V721M;ENSP00000379871:V711M	ENSP00000315945:V711M	V	-	1	0	CD163L1	7423081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.251000	0.00074	-3.392000	0.00172	-3.006000	0.00076	GTG		0.502	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7531814	C	T	7531814	3	4	199	1	0	0	0	0	1	0	0	0	2968	536	19	1	2274	1	CD163L1	12	7531814	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		7531814	126320081	33	14034											
PPM1H	57460	broad.mit.edu	37	chr12	63195712	63195712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggcccccacccctcCgcgcagggaggctgcccggg	3	2	16	20	4	0	0	0	0	0	0	1	1	1	1	7	5	1	2	7	5	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:63195712C>T	ENST00000228705.6	-	3	940	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	214	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCCACCCCTCCGCGCAGGGAG	0.682																																						uc001srk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(640-642)Gga>Aga		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.							27	33	31					12																	63195712		1889	4093	5982	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63195712C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.640G>A	12.37:g.63195712C>T	ENSP00000228705:p.Gly214Arg						p.G214R	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	2	789	-			214			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.640G>A	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635285	0.67130	.	.	ENSG00000111110	ENST00000228705	T	0.23950	1.88	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	P	0.51055	0.657	T	0.27606	-1.0069	9	.	.	.	-1.1288	17.2574	0.87061	0.0:1.0:0.0:0.0	.	214	Q9ULR3	PPM1H_HUMAN	R	214	ENSP00000228705:G214R	.	G	-	1	0	PPM1H	61481979	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	5.272000	0.65559	2.124000	0.65301	0.462000	0.41574	GGA		0.682	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		T	63195712	C	T	63195712	3	4	199	1	0	0	0	0	1	0	0	0	12341	661	23	2	936	2	PPM1H	12	63195712	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	55663898	63195712	70656183	34	14035											
ATP11A	23250	broad.mit.edu	37	chr13	113527920	113527920	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactactggacttggatcAaccattttgtcatctggggg	9	12	10	10	0	3	0	2	0	1	0	3	2	3	2	1	4	2	0	1	4	2	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr13:113527920A>T	ENST00000487903.1	+	27	3179	c.3091A>T	c.(3091-3093)Aac>Tac	p.N1031Y	ATP11A_ENST00000283558.8_Missense_Mutation_p.N1031Y|ATP11A_ENST00000375630.2_Missense_Mutation_p.N1031Y|ATP11A_ENST00000375645.3_Missense_Mutation_p.N1031Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1031					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GACTTGGATCAACCATTTTGT	0.448											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(3091-3093)Aac>Tac		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							224	186	199					13																	113527920		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113527920A>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3091A>T	13.37:g.113527920A>T	ENSP00000420387:p.Asn1031Tyr		OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1451	ATP11A_uc001vsi.4_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.3_Non-coding_Transcript	p.N1031Y	NM_032189	NP_115565	P98196	AT11A_HUMAN			26	3179	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1031					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3091A>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158356	0.78114	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	H	0.94503	3.545	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.62089	0.898;0.746	D	0.87677	0.2545	10	0.87932	D	0	.	13.7345	0.62809	1.0:0.0:0.0:0.0	.	1031;1031	E9PEJ6;P98196	.;AT11A_HUMAN	Y	1031;1031;1031;1031;23	ENSP00000420387:N1031Y;ENSP00000364781:N1031Y;ENSP00000364796:N1031Y;ENSP00000283558:N1031Y;ENSP00000410824:N23Y	ENSP00000283558:N1031Y	N	+	1	0	ATP11A	112575921	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	8.453000	0.90349	1.712000	0.51347	0.379000	0.24179	AAC		0.448	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		T	113527920	A	T	113527920	3	4	199	1	0	0	0	0	1	0	0	0	1119	130	5	5	3197	5	ATP11A	13	113527920	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08		113527920	1641958	35	14036											
AK7	122481	broad.mit.edu	37	chr14	96953242	96953242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattctattttagaataaacGactggaggaagtgaaaagag	17	11	10	3	1	1	3	0	1	1	2	1	6	1	5	0	2	1	0	0	2	9	6			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr14:96953242G>A	ENST00000267584.4	+	17	2026	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	661	Glu-rich.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TAGAATAAACGACTGGAGGAA	0.393																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1981-1983)cGa>cAa		Homo sapiens adenylate kinase 7 (AK7), mRNA.							60	61	61					14																	96953242		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96953242G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1982G>A	14.37:g.96953242G>A	ENSP00000267584:p.Arg661Gln						p.R661Q	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	16	2026	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	661			Glu-rich.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1982G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980306	0.34942	.	.	ENSG00000140057	ENST00000267584	T	0.57595	0.39	5.45	3.55	0.40652	.	0.441306	0.24547	N	0.037586	T	0.39306	0.1073	L	0.39147	1.195	0.09310	N	0.999999	B	0.29481	0.245	B	0.25405	0.06	T	0.26224	-1.0109	10	0.39692	T	0.17	-11.9205	8.3798	0.32463	0.129:0.1464:0.7247:0.0	.	661	Q96M32	KAD7_HUMAN	Q	661	ENSP00000267584:R661Q	ENSP00000267584:R661Q	R	+	2	0	AK7	96022995	0.868000	0.29978	0.055000	0.19348	0.989000	0.77384	1.568000	0.36418	1.395000	0.46643	0.591000	0.81541	CGA		0.393	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			A	96953242	G	A	96953242	3	1	199	1	0	0	0	0	1	0	0	0	444	1058	37	2	2048	2	AK7	14	96953242	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		96953242	10396298	36	14037											
RYR3	6263	broad.mit.edu	37	chr15	33944995	33944995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatcaaatcggagcaacGtggacctggagatcggctgt	12	7	14	8	3	1	2	1	0	0	2	3	6	1	4	1	4	2	2	1	4	2	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:33944995G>A	ENST00000389232.4	+	32	4289	c.4219G>A	c.(4219-4221)Gtg>Atg	p.V1407M	RYR3_ENST00000415757.3_Missense_Mutation_p.V1407M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1407	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGAGCAACGTGGACCTGGA	0.557																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4219-4221)Gtg>Atg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							110	112	111					15																	33944995		2041	4208	6249	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33944995G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4219G>A	15.37:g.33944995G>A	ENSP00000373884:p.Val1407Met					RYR3_uc010bar.3_Missense_Mutation_p.V1407M	p.V1407M	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	31	4289	+		all_lung(180;7.18e-09)	1407			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4219G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620794	0.66787	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69306	-0.39;-0.39	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.326332	0.28572	N	0.014872	T	0.75824	0.3902	L	0.40543	1.245	0.44194	D	0.997017	D;D	0.71674	0.996;0.998	P;D	0.65773	0.642;0.938	T	0.74275	-0.3718	10	0.46703	T	0.11	.	19.6435	0.95767	0.0:0.0:1.0:0.0	.	1407;1407	Q15413-2;Q15413	.;RYR3_HUMAN	M	1407	ENSP00000373884:V1407M;ENSP00000399610:V1407M	ENSP00000354735:V1407M	V	+	1	0	RYR3	31732287	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	2.493000	0.45320	2.866000	0.98385	0.650000	0.86243	GTG		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33944995	G	A	33944995	3	1	199	1	0	0	0	0	1	0	0	0	13770	1145	40	1	4345	1	RYR3	15	33944995	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		33944995	68586397	37	14038											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658464	43658464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctcttcagtctcagcatCgctgcctaccaggccagagt	7	10	10	14	1	3	1	2	0	2	1	5	1	3	1	3	2	3	3	3	2	1	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:43658464C>T	ENST00000396976.2	-	3	1200	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.D355N	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	356					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTCTCAGCATCGCTGCCTACC	0.572																																						uc001zrk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1066-1068)Gat>Aat		Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.							59	56	57					15																	43658464		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658464C>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1066G>A	15.37:g.43658464C>T	ENSP00000380174:p.Asp356Asn					ZSCAN29_uc001zrj.1_Missense_Mutation_p.D236N|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.D355N|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.D355N	p.D356N	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	2	1213	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	356					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1066G>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449056	0.43531	.	.	ENSG00000140265	ENST00000396976	T	0.09073	3.02	5.24	4.32	0.51571	.	0.346976	0.26224	N	0.025610	T	0.23688	0.0573	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.982;0.985;0.99	T	0.00529	-1.1687	10	0.46703	T	0.11	-0.653	11.7232	0.51693	0.0:0.915:0.0:0.085	.	355;356;356	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	N	356	ENSP00000380174:D356N	ENSP00000380174:D356N	D	-	1	0	ZSCAN29	41445756	0.004000	0.15560	0.242000	0.24170	0.030000	0.12068	1.543000	0.36147	1.446000	0.47643	0.655000	0.94253	GAT		0.572	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		T	43658464	C	T	43658464	3	4	199	1	0	0	0	0	1	0	0	0	18233	884	31	2	1504	2	ZSCAN29	15	43658464	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	9713469	43658464	58872928	38	14039											
SLC28A2	9153	broad.mit.edu	37	chr15	45555359	45555359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtcctggttcactcGtttttgaaaaagctcctggg	7	16	9	9	1	2	1	1	1	1	0	5	1	4	1	2	2	1	3	2	2	2	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:45555359G>A	ENST00000347644.3	+	5	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	121					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGGTTCACTCGTTTTTGAAAA	0.458																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(361-363)tcG>tcA		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.							103	98	100					15																	45555359		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555359G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.363G>A	15.37:g.45555359G>A							p.S121S	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	4	428	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	121					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.363G>A	CCDS10121.1																																																																																				0.458	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		A	45555359	G	A	45555359	2	1	199	1	0	0	0	0	0	0	0	1	14532	1132	40	1		1	SLC28A2	15	45555359	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	1896895	45555359	56976033	39	14040											
GRIN2A	2903	broad.mit.edu	37	chr16	10273879	10273879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccatgatcatagatgcGcccccatgaatgcccaagat	12	8	8	13	1	2	4	2	2	0	2	2	4	2	4	4	0	3	0	4	0	3	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr16:10273879G>A	ENST00000396573.2	-	3	699	c.390C>T	c.(388-390)ggC>ggT	p.G130G	GRIN2A_ENST00000562109.1_Silent_p.G130G|GRIN2A_ENST00000330684.3_Silent_p.G130G|GRIN2A_ENST00000396575.2_Silent_p.G130G|GRIN2A_ENST00000404927.2_Silent_p.G130G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	130					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATAGATGCGCCCCCATGAA	0.597																																						uc010uym.2																			0		p.G130C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(388-390)ggC>ggT		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						54	49	51					16																	10273879		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10273879G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.390C>T	16.37:g.10273879G>A						GRIN2A_uc002czo.4_Silent_p.G130G|GRIN2A_uc002czr.4_Silent_p.G130G|GRIN2A_uc010buk.3_Silent_p.G130G	p.G130G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			2	700	-			130					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.390C>T	CCDS10539.1																																																																																				0.597	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	10273879	G	A	10273879	2	1	199	1	0	0	0	0	0	0	0	1	6779	1074	38	1		1	GRIN2A	16	10273879	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08		10273879	80080874	40	14041											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400088	13400088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgacgaagtaactgggcGtcttctccatggtgatctgc	7	11	13	10	3	3	2	0	2	3	0	4	3	3	2	1	2	2	1	1	2	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:13400088G>A	ENST00000284110.1	-	2	1444	c.647C>T	c.(646-648)aCg>aTg	p.T216M	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.T14M	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	216	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAACTGGGCGTCTTCTCCAT	0.622																																						uc002gob.1																			0		p.T216T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(646-648)aCg>aTg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.							58	67	64					17																	13400088		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400088G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.647C>T	17.37:g.13400088G>A	ENSP00000284110:p.Thr216Met						p.T216M	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	1445	-		all_lung(20;0.114)	216			Substrate binding.		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.647C>T	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868184	0.91587	.	.	ENSG00000153976	ENST00000284110	T	0.47869	0.83	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.81128	0.4758	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87298	0.2303	10	0.87932	D	0	.	19.4836	0.95020	0.0:0.0:1.0:0.0	.	216	Q9Y663	HS3SA_HUMAN	M	216	ENSP00000284110:T216M	ENSP00000284110:T216M	T	-	2	0	HS3ST3A1	13340813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.599000	0.98280	2.873000	0.98535	0.563000	0.77884	ACG		0.622	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		A	13400088	G	A	13400088	3	1	199	1	0	0	0	0	1	0	0	0	7365	1145	40	1	577	1	HS3ST3A1	17	13400088	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		13400088	67795122	41	14042											
HEXIM1	10614	broad.mit.edu	37	chr17	43226653	43226653	+	Frame_Shift_Del	DEL	C	C	-																															gaagagctgaaccctgagcgCcccccaggcgcggaggagcg																										TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:43226653delC	ENST00000332499.2	+	1	1970	c.96delC	c.(94-96)cgcfs	p.R32fs	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	32					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCTGAGCGCCCCCCAGGCG	0.632											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.3																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(94-96)cgcfs		Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.							54	65	61					17																	43226653		2203	4300	6503	SO:0001589	frameshift_variant	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43226653delC	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.96delC	17.37:g.43226653delC	ENSP00000328773:p.Arg32fs		OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.R32fs	NM_006460	NP_006451	O94992	HEXI1_HUMAN			0	1970	+			32					B2R8Y5	Frame_Shift_Del	DEL	ENST00000332499.2	37	c.96delC	CCDS11495.1																																																																																				0.632	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		-	43226653	C	-	43226653	7	5	199	1	0	1	0	1	0	0	0	0	7076	726	26	0	98	0	HEXIM1	17	43226653	Frame_Shift_Del	DEL	C	TCGA-28-1747-01C-01D-1494-08	29826565	43226653	37968557	42	14043											
ABCA9	10350	broad.mit.edu	37	chr17	67016638	67016638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgattgttttccttgtttCgtggaaggaagacaaaactt	11	15	9	6	1	0	2	0	1	0	1	2	4	1	4	1	2	1	2	1	2	4	6			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:67016638C>T	ENST00000340001.4	-	19	2702	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	ABCA9_ENST00000370732.2_Missense_Mutation_p.E831K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.E831K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	831					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCCTTGTTTCGTGGAAGGAA	0.413																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2491-2493)Gaa>Aaa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							115	105	108					17																	67016638		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016638C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2491G>A	17.37:g.67016638C>T	ENSP00000342216:p.Glu831Lys					ABCA9_uc010dez.3_Missense_Mutation_p.E831K	p.E831K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			18	2634	-	Breast(10;1.47e-12)		831					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2491G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911806	0.33721	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.79033	-1.23;-1.23	5.08	4.08	0.47627	.	0.750110	0.11310	N	0.577232	T	0.68128	0.2967	L	0.47716	1.5	0.09310	N	1	P;B	0.39060	0.657;0.133	B;B	0.29663	0.105;0.046	T	0.56697	-0.7936	10	0.40728	T	0.16	.	11.5706	0.50832	0.3355:0.6645:0.0:0.0	.	831;831	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	831;814;831;826	ENSP00000342216:E831K;ENSP00000359767:E831K	ENSP00000342216:E831K	E	-	1	0	ABCA9	64528233	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	1.180000	0.32005	1.209000	0.43321	0.543000	0.68304	GAA		0.413	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		T	67016638	C	T	67016638	3	4	199	1	0	0	0	0	1	0	0	0	39	893	31	2	2467	2	ABCA9	17	67016638	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	23789985	67016638	14178572	43	14044											
LIPG	9388	broad.mit.edu	37	chr18	47101837	47101837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctccacacctacacgCgttccttcggcttgagcatt	7	12	7	15	3	0	1	0	1	0	0	4	1	3	1	4	1	2	3	4	1	1	5			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr18:47101837C>T	ENST00000261292.4	+	5	948	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	LIPG_ENST00000577628.1_Missense_Mutation_p.R260C|LIPG_ENST00000580036.1_Missense_Mutation_p.R224C|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	224					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTACACGCGTTCCTTCGG	0.557																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(670-672)Cgt>Tgt		Homo sapiens lipase, endothelial (LIPG), mRNA.							104	82	89					18																	47101837		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101837C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.670C>T	18.37:g.47101837C>T	ENSP00000261292:p.Arg224Cys					LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.2_Intron	p.R224C	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			4	922	+			224					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.670C>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867051	0.51588	.	.	ENSG00000101670	ENST00000261292	D	0.90444	-2.67	5.72	3.8	0.43715	Lipase, N-terminal (1);	0.417856	0.25581	N	0.029699	D	0.93887	0.8044	M	0.78456	2.415	0.09310	N	1	D;D	0.89917	1.0;1.0	D;P	0.65987	0.94;0.901	D	0.87273	0.2287	10	0.72032	D	0.01	-34.1669	10.3289	0.43809	0.2678:0.6242:0.108:0.0	.	224;224	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	C	224	ENSP00000261292:R224C	ENSP00000261292:R224C	R	+	1	0	LIPG	45355835	0.285000	0.24296	0.012000	0.15200	0.643000	0.38383	1.158000	0.31737	1.398000	0.46701	0.591000	0.81541	CGT		0.557	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		T	47101837	C	T	47101837	3	4	199	1	0	0	0	0	1	0	0	0	8823	768	27	1	688	1	LIPG	18	47101837	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		47101837	30975411	44	14045											
TUBB4	10382	broad.mit.edu	37	chr19	6495585	6495585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccacggtcaggtagcGgccgtggcgcgggtcgcacg	4	4	20	13	8	1	0	1	0	0	0	2	0	1	0	2	7	1	2	2	7	1	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:6495585G>A	ENST00000264071.2	-	4	1296	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R309C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	309					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R309C(1)									GTCAGGTAGCGGCCGTGGCGC	0.662																																						uc002mfg.1																			1	Substitution - Missense(1)	p.R309C(1)	endometrium(1)								c.(925-927)Cgc>Tgc		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							70	67	68					19																	6495585		2203	4299	6502	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495585G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.925C>T	19.37:g.6495585G>A	ENSP00000264071:p.Arg309Cys					TUBB4A_uc002mff.1_Missense_Mutation_p.R237C|JA429441_uc021unq.1_5'Flank	p.R309C	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	1032	-			309					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.925C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591863	0.46214	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.81996	-1.56;-1.56	3.54	3.54	0.40534	.	0.000000	0.64402	D	0.000001	D	0.86397	0.5923	H	0.94658	3.565	0.80722	D	1	P	0.41929	0.765	B	0.36608	0.229	D	0.90091	0.4177	10	0.87932	D	0	.	13.9263	0.63964	0.0:0.0:1.0:0.0	.	309	P04350	TBB4A_HUMAN	C	309;309;227	ENSP00000264071:R309C;ENSP00000443590:R309C	ENSP00000264071:R309C	R	-	1	0	TUBB4	6446585	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.589000	0.98235	1.548000	0.49413	0.306000	0.20318	CGC		0.662	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495585	G	A	6495585	3	1	199	1	0	0	0	0	1	0	0	0	16755	1116	39	2	413	2	TUBB4	19	6495585	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		6495585	52633398	45	14046											
MUC16	94025	broad.mit.edu	37	chr19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatatctgggaactttGttgactgagcaggagttggt	12	12	13	4	0	1	3	0	2	1	1	1	5	1	5	0	3	2	3	0	3	4	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:9073488G>T	ENST00000397910.4	-	3	14161	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4655	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAACTTTGTTGACTGAGC	0.458																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13957-13959)aCa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							114	110	111					19																	9073488		1898	4114	6012	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073488G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13958C>A	19.37:g.9073488G>T	ENSP00000381008:p.Thr4653Lys						p.T4653K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	14162	-			4655			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13958C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.527	-0.096451	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.79	-0.602	0.11634	.	.	.	.	.	T	0.03095	0.0091	L	0.28115	0.83	.	.	.	P	0.44344	0.833	P	0.47744	0.556	T	0.40664	-0.9551	8	0.87932	D	0	.	3.017	0.06063	0.1907:0.2904:0.5189:0.0	.	4653	B5ME49	.	K	4653	ENSP00000381008:T4653K	ENSP00000381008:T4653K	T	-	2	0	MUC16	8934488	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.936000	0.28938	-0.081000	0.12662	0.313000	0.20887	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9073488	G	T	9073488	3	4	199	1	0	0	0	0	1	0	0	0	9973	1377	48	5	29893	5	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	2577903	9073488	50055495	46	14047											
GRAMD1A	57655	broad.mit.edu	37	chr19	35500871	35500871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccgaagcagaacgcctcaTtgtgggtgagtcccggaccc	8	6	12	15	3	1	2	1	1	0	1	2	4	2	3	5	2	2	1	5	2	2	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:35500871T>C	ENST00000317991.5	+	4	512	c.320T>C	c.(319-321)aTt>aCt	p.I107T	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.I107T|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.I194T|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.I100T|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	107	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAACGCCTCATTGTGGGTGAG	0.607																																						uc010xsf.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(334-336)aTt>aCt		Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.							96	101	99					19																	35500871		1967	4139	6106	SO:0001583	missense	57655					integral to membrane		g.chr19:35500871T>C	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.320T>C	19.37:g.35500871T>C	ENSP00000441032:p.Ile107Thr					GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc010xse.1_Missense_Mutation_p.I107T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR	p.I112T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	335	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		107			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.335T>C	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397211	0.83120	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.88896	-2.44;-2.44	5.18	5.18	0.71444	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	M	0.92880	3.355	0.80722	D	1	P;D;P;P	0.76494	0.93;0.999;0.839;0.701	P;D;P;P	0.85130	0.736;0.997;0.697;0.503	D	0.96217	0.9157	10	0.87932	D	0	.	13.0343	0.58860	0.0:0.0:0.0:1.0	.	107;107;100;194	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	T	194;107;100	ENSP00000441032:I107T;ENSP00000439267:I100T	ENSP00000441032:I107T	I	+	2	0	GRAMD1A	40192711	1.000000	0.71417	0.970000	0.41538	0.948000	0.59901	5.962000	0.70364	2.176000	0.68965	0.477000	0.44152	ATT		0.607	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		C	35500871	T	C	35500871	3	2	199	1	0	0	0	0	1	0	0	0	6747	1493	52	4	334	4	GRAMD1A	19	35500871	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	26427383	35500871	23628112	47	14048											
ZNF610	162963	broad.mit.edu	37	chr19	52868955	52868955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttcttcttttctagggagGagctgtgtattgggaagcaa	8	15	12	6	0	3	0	0	0	3	0	3	3	3	3	0	3	2	3	0	3	4	7			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:52868955G>A	ENST00000403906.3	+	6	780	c.324G>A	c.(322-324)agG>agA	p.R108R	ZNF610_ENST00000327920.8_Silent_p.R108R|ZNF610_ENST00000601151.1_Silent_p.R65R|ZNF610_ENST00000321287.8_Silent_p.R108R	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTCTAGGGAGGAGCTGTGTAT	0.453																																						uc002pyx.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(322-324)agG>agA		Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.							110	121	117					19																	52868955		2201	4300	6501	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52868955G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.324G>A	19.37:g.52868955G>A						ZNF610_uc002pyy.4_Silent_p.R108R|ZNF610_uc002pyz.4_Silent_p.R65R|ZNF610_uc002pza.3_Silent_p.R108R	p.R108R	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	730	+			108					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.324G>A	CCDS12851.1																																																																																				0.453	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52868955	G	A	52868955	2	1	199	1	0	0	0	0	0	0	0	1	18033	1165	41	3		3	ZNF610	19	52868955	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	17368084	52868955	6260028	48	14049											
PTPRH	5794	broad.mit.edu	37	chr19	55693262	55693262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcactgatgcaggaataCgtactgagcctgggaagcag	12	7	14	8	1	0	2	0	2	0	0	0	5	0	4	1	2	6	4	1	2	4	2	rs140496718		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:55693262C>T	ENST00000376350.3	-	20	3230	c.3208G>A	c.(3208-3210)Gta>Ata	p.V1070I	SYT5_ENST00000354308.3_5'Flank|SYT5_ENST00000590851.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.V892I|SYT5_ENST00000537500.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1070	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCAGGAATACGTACTGAGCC	0.622																																						uc002qjq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3208-3210)Gta>Ata		Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	118	112	114		2674,3208	3.4	0.7	19	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	29,29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging	892/938,1070/1116	55693262	5,13001	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693262C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3208G>A	19.37:g.55693262C>T	ENSP00000365528:p.Val1070Ile					PTPRH_uc010esv.3_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.V1070I	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3281	-		Renal(1328;0.245)	1070			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3208G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137772	0.56936	2.27E-4	4.65E-4	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.83163	-1.69;-1.69	4.41	3.36	0.38483	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.233843	0.22071	N	0.065021	T	0.57577	0.2063	N	0.03891	-0.335	0.39756	D	0.971963	P;P	0.46621	0.881;0.881	B;B	0.37091	0.241;0.241	T	0.58272	-0.7665	10	0.15066	T	0.55	.	9.4684	0.38826	0.0:0.8172:0.0:0.1828	.	892;1070	C9JCH2;Q9HD43	.;PTPRH_HUMAN	I	1070;892	ENSP00000365528:V1070I;ENSP00000263434:V892I	ENSP00000263434:V892I	V	-	1	0	PTPRH	60385074	0.935000	0.31712	0.736000	0.30914	0.503000	0.33858	0.631000	0.24568	1.177000	0.42855	-0.156000	0.13503	GTA		0.622	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55693262	C	T	55693262	3	4	199	1	0	0	0	0	1	0	0	0	12803	536	19	1	143	1	PTPRH	19	55693262	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	2824307	55693262	3435721	49	14050											
ANGPT4	51378	broad.mit.edu	37	chr20	853677	853677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgaagtagtgccagcGgatgccgtccatcttgtact	7	11	11	12	2	1	1	0	1	1	0	2	2	2	2	4	1	4	2	4	1	3	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:853677G>A	ENST00000381922.3	-	9	1540	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	480	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TAGTGCCAGCGGATGCCGTCC	0.587																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1438-1440)Cgc>Tgc		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							124	110	115					20																	853677		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853677G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1438C>T	20.37:g.853677G>A	ENSP00000371347:p.Arg480Cys					ANGPT4_uc010zpn.2_3'UTR	p.R480C	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			8	1541	-			480			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1438C>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800422	0.70567	.	.	ENSG00000101280	ENST00000381922	T	0.20738	2.05	4.4	3.45	0.39498	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.080893	0.49305	D	0.000152	T	0.24736	0.0600	N	0.16266	0.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03739	-1.1008	10	0.39692	T	0.17	.	6.7971	0.23731	0.0904:0.0:0.7359:0.1737	.	480	Q9Y264	ANGP4_HUMAN	C	480	ENSP00000371347:R480C	ENSP00000371347:R480C	R	-	1	0	ANGPT4	801677	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.620000	0.67736	1.070000	0.40811	0.491000	0.48974	CGC		0.587	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	853677	G	A	853677	3	1	199	1	0	0	0	0	1	0	0	0	612	1116	39	2	77	2	ANGPT4	20	853677	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		853677	62171843	50	14051											
MOCS3	8813	broad.mit.edu	37	chr20	49576424	49576424	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgactgctggattctgggGcattccacctgttgctggac	6	11	13	11	1	1	0	0	0	1	0	2	3	2	2	2	4	3	4	2	4	0	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:49576424G>C	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.A349P	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGATTCTGGGGCATTCCACCT	0.552																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1045-1047)Gca>Cca		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.							183	182	182					20																	49576424		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576424G>C	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576424G>C	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.A349P	NM_014484	NP_055299	O95396	MOCS3_HUMAN			0	1062	+			349			Rhodanese.		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.1045G>C	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	8.098	0.776018	0.16051	.	.	ENSG00000124217	ENST00000244051	T	0.29917	1.55	5.01	-3.57	0.04612	Rhodanese-like (3);Molybdenum cofactor biosynthesis, MoeB (1);	1.047640	0.07420	N	0.893763	T	0.19087	0.0458	N	0.25201	0.72	0.09310	N	1	B	0.26672	0.156	B	0.28849	0.095	T	0.34179	-0.9839	9	.	.	.	0.0024	9.6234	0.39734	0.1741:0.0:0.6949:0.1311	.	349	O95396	MOCS3_HUMAN	P	349	ENSP00000244051:A349P	.	A	+	1	0	MOCS3	49009831	0.005000	0.15991	0.018000	0.16275	0.647000	0.38526	0.167000	0.16602	-0.774000	0.04590	0.561000	0.74099	GCA		0.552	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		C	49576424	G	C	49576424	1	2	199	0	1	0	0	0	0	0	0	0	9692	1203	42	5		5	MOCS3	20	49576424	5'Flank	SNP	G	TCGA-28-1747-01C-01D-1494-08	48722747	49576424	13449096	51	14052											
TRPM2	7226	broad.mit.edu	37	chr21	45798938	45798938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtggagggctcgggccGcgtggccgacgtcattgccc	3	8	18	12	5	1	0	1	0	0	0	2	2	1	1	3	5	1	2	3	5	0	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr21:45798938G>A	ENST00000397928.1	+	8	1518	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TRPM2_ENST00000300482.5_Missense_Mutation_p.R358H|TRPM2_ENST00000300481.9_Missense_Mutation_p.R358H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R358H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	358					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCTCGGGCCGCGTGGCCGAC	0.622																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1072-1074)cGc>cAc		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							82	67	72					21																	45798938		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45798938G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1073G>A	21.37:g.45798938G>A	ENSP00000381023:p.Arg358His					TRPM2_uc002zet.1_Missense_Mutation_p.R358H|TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H	p.R358H	NM_003307	NP_003298	O94759	TRPM2_HUMAN			7	1173	+			358					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1073G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623711	0.87460	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	3.84	3.84	0.44239	.	0.123647	0.52532	D	0.000068	T	0.66982	0.2845	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.77558	-0.2543	10	0.72032	D	0.01	-28.2498	15.9747	0.80054	0.0:0.0:1.0:0.0	.	358;358	E9PGK7;O94759	.;TRPM2_HUMAN	H	358	ENSP00000300482:R358H;ENSP00000381023:R358H;ENSP00000300481:R358H;ENSP00000381026:R358H	ENSP00000300481:R358H	R	+	2	0	TRPM2	44623366	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	9.161000	0.94739	1.971000	0.57363	0.563000	0.77884	CGC		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45798938	G	A	45798938	3	1	199	1	0	0	0	0	1	0	0	0	16583	1087	38	1	1103	1	TRPM2	21	45798938	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		45798938	2330957	52	14053											
CROCC	9696	broad.mit.edu	37	chr1	17296756	17296756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgttgcaggtgctgcgGcagcggcaggagggtgaggc	5	8	19	9	2	1	1	0	1	1	0	1	2	1	2	0	6	4	5	0	6	0	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:17296756G>A	ENST00000375541.5	+	34	5529	c.5460G>A	c.(5458-5460)cgG>cgA	p.R1820R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGTGCTGCGGCAGCGGCAGG	0.657																																						uc001azt.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5458-5460)cgG>cgA		Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.							4	4	4					1																	17296756		1786	3668	5454	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17296756G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5460G>A	1.37:g.17296756G>A						CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	p.R1820R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	33	5529	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1820						Silent	SNP	ENST00000375541.5	37	c.5460G>A	CCDS30616.1																																																																																				0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17296756	G	A	17296756	2	1	200	1	0	0	0	0	0	0	0	1	3893	1190	42	3		3	CROCC	1	17296756	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		17296756	231953865	1	14054											
HCRTR1	3061	broad.mit.edu	37	chr1	32086485	32086485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctaactctcagcttcatCgccctggaccgctggtatgc	6	11	10	14	2	2	0	2	0	1	0	4	1	2	1	2	2	4	4	2	2	2	3	rs140406432		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:32086485C>T	ENST00000373706.5	+	3	573	c.420C>T	c.(418-420)atC>atT	p.I140I	HCRTR1_ENST00000403528.2_Silent_p.I140I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.I140I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	140					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCAGCTTCATCGCCCTGGACC	0.627																																						uc009vtx.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(418-420)atC>atT		Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.		C		0,4406		0,0,2203	133	124	127		420	2	1	1	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HCRTR1	NM_001525.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		140/426	32086485	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32086485C>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.420C>T	1.37:g.32086485C>T						HCRTR1_uc001btc.4_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.2_Silent_p.I140I	p.I140I	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	4	805	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	140					A8K3A6|Q9HBV6	Silent	SNP	ENST00000373706.5	37	c.420C>T	CCDS344.1																																																																																				0.627	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		T	32086485	C	T	32086485	2	4	200	1	0	0	0	0	0	0	0	1	7001	874	31	2		2	HCRTR1	1	32086485	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	14789729	32086485	217164136	2	14055											
PABPC4	8761	broad.mit.edu	37	chr1	40038250	40038250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagttcatggtgtccaaagCccgctcagctgtaagagaga	13	8	11	9	1	2	2	2	0	0	2	3	3	3	2	2	1	2	4	2	1	3	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:40038250C>T	ENST00000372857.3	-	2	994	c.202G>A	c.(202-204)Gct>Act	p.A68T	PABPC4_ENST00000372856.3_Missense_Mutation_p.A68T|PABPC4_ENST00000372858.3_Missense_Mutation_p.A68T|PABPC4_ENST00000529216.1_5'Flank|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.A68T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	68	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTCCAAAGCCCGCTCAGCT	0.463																																						uc001cdl.2																			0		p.R67W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(202-204)Gct>Act		Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.							78	72	74					1																	40038250		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40038250C>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.202G>A	1.37:g.40038250C>T	ENSP00000361948:p.Ala68Thr					PABPC4_uc010oiv.1_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	p.A68T	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	1100	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	68			RRM 1.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.202G>A	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421956	0.96111	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856;ENST00000451091	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.69	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.995	T	0.79862	-0.1624	10	0.87932	D	0	.	15.051	0.71867	0.0:0.9308:0.0:0.0692	.	68;68;68	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	T	68	ENSP00000361953:A68T;ENSP00000361949:A68T;ENSP00000361948:A68T;ENSP00000361947:A68T;ENSP00000406675:A68T	ENSP00000361947:A68T	A	-	1	0	PABPC4	39810837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.977000	0.70492	2.682000	0.91365	0.655000	0.94253	GCT		0.463	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		T	40038250	C	T	40038250	3	4	200	1	0	0	0	0	1	0	0	0	11366	739	26	3	1836	3	PABPC4	1	40038250	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	7951765	40038250	209212371	3	14056											
CYP4X1	260293	broad.mit.edu	37	chr1	47512186	47512186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgtgcatcaaggagaCgtgccgattgattcctgcag	11	9	11	10	2	1	2	1	1	0	1	2	4	2	2	2	1	3	2	2	1	2	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47512186C>T	ENST00000371901.3	+	9	1371	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CYP4X1_ENST00000538609.1_Missense_Mutation_p.T373M	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	374						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCAAGGAGACGTGCCGATTG	0.493																																						uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1120-1122)aCg>aTg		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.							179	151	160					1																	47512186		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47512186C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1121C>T	1.37:g.47512186C>T	ENSP00000360968:p.Thr374Met					CYP4X1_uc001cqr.3_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.3_Missense_Mutation_p.T309M	p.T374M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			8	1371	+			374					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1121C>T	CCDS544.1	.	.	.	.	.	.	.	.	.	.	c	11.75	1.731807	0.30684	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.72167	-0.63;-0.63	6.08	1.49	0.22878	.	0.900013	0.09816	N	0.752198	T	0.71350	0.3329	M	0.85299	2.745	0.09310	N	1	P;D	0.63880	0.89;0.993	P;P	0.45276	0.475;0.463	T	0.62793	-0.6779	10	0.87932	D	0	.	2.5256	0.04690	0.1183:0.4803:0.2133:0.1881	.	374;373	Q8N118;G3V1U1	CP4X1_HUMAN;.	M	373;374	ENSP00000445965:T373M;ENSP00000360968:T374M	ENSP00000360968:T374M	T	+	2	0	CYP4X1	47284773	0.083000	0.21467	0.001000	0.08648	0.055000	0.15305	1.378000	0.34328	0.011000	0.14865	-0.218000	0.12543	ACG		0.493	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		T	47512186	C	T	47512186	3	4	200	1	0	0	0	0	1	0	0	0	4193	536	19	1	1155	1	CYP4X1	1	47512186	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	7473936	47512186	201738435	4	14057											
CYP4A22	284541	broad.mit.edu	37	chr1	47606460	47606460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttgacagttccaacaCgaccaggagctacaacggat	12	7	9	13	3	0	1	0	1	0	0	2	4	1	3	3	2	4	3	3	2	3	3	rs370585374		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47606460C>T	ENST00000371891.3	+	2	235	c.204C>T	c.(202-204)caC>caT	p.H68H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.H68H|CYP4A22_ENST00000371890.3_Silent_p.H68H|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	68						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCCAACACGACCAGGAGC	0.498																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(202-204)caC>caT		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	157	137	144		204	-2.4	0	1		144	0,8600		0,0,4300	no	coding-synonymous	CYP4A22	NM_001010969.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		68/520	47606460	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47606460C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.204C>T	1.37:g.47606460C>T						CYP4A22_uc009vyo.3_Silent_p.H68H|CYP4A22_uc009vyp.3_Silent_p.H68H	p.H68H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			1	255	+			68					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.204C>T	CCDS30707.1																																																																																				0.498	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		T	47606460	C	T	47606460	2	4	200	1	0	0	0	0	0	0	0	1	4184	535	19	1		1	CYP4A22	1	47606460	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	94274	47606460	201644161	5	14058											
CDKN2C	1031	broad.mit.edu	37	chr1	51439583	51439583	+	Frame_Shift_Del	DEL	C	C	-																															aggttatgaaacttggaaatCccgagattgccaggagactg																										TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:51439583delC	ENST00000262662.1	+	4	2182	c.148delC	c.(148-150)cccfs	p.P50fs	CDKN2C_ENST00000396148.1_Frame_Shift_Del_p.P50fs|CDKN2C_ENST00000371761.3_Frame_Shift_Del_p.P50fs			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	50					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACTTGGAAATCCCGAGATTGC	0.428			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(148-150)cccfs		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.							85	93	90					1																	51439583		2203	4300	6503	SO:0001589	frameshift_variant	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439583delC	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.148delC	1.37:g.51439583delC	ENSP00000262662:p.Pro50fs					CDKN2C_uc001csg.3_Frame_Shift_Del_p.P50fs	p.P50fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	2	2123	+			50					Q8TB83	Frame_Shift_Del	DEL	ENST00000262662.1	37	c.148delC	CCDS555.1																																																																																				0.428	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		-	51439583	C	-	51439583	7	5	200	1	0	1	0	1	0	0	0	0	3165	855	30	0	154	0	CDKN2C	1	51439583	Frame_Shift_Del	DEL	C	TCGA-28-1753-01A-01D-1494-08	3833123	51439583	197811038	6	14059											
FCRLA	84824	broad.mit.edu	37	chr1	161682005	161682005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctagagatcagagtgCagggtgagttcgcatcagag	11	7	14	9	1	2	4	2	1	0	3	3	5	2	4	1	1	2	4	1	1	1	2	rs569112764		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:161682005C>T	ENST00000236938.6	+	4	1074	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	FCRLA_ENST00000309691.6_Nonsense_Mutation_p.Q172*|FCRLA_ENST00000367953.3_Nonsense_Mutation_p.Q267*|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Nonsense_Mutation_p.Q127*|FCRLA_ENST00000540521.1_Nonsense_Mutation_p.Q144*|FCRLA_ENST00000546024.1_Nonsense_Mutation_p.Q189*|FCRLA_ENST00000367959.2_Nonsense_Mutation_p.Q284*|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Nonsense_Mutation_p.Q267*|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Nonsense_Mutation_p.Q138*	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	261	Pro-rich.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATCAGAGTGCAGGGTGAGTT	0.527																																						uc001gbe.3																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(850-852)Cag>Tag		Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.							69	68	68					1																	161682005		2203	4300	6503	SO:0001587	stop_gained	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161682005C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.832C>T	1.37:g.161682005C>T	ENSP00000236938:p.Gln278*					FCRLA_uc001gbg.3_Nonsense_Mutation_p.Q138*|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.3_Nonsense_Mutation_p.Q189*|FCRLA_uc009wuo.3_Nonsense_Mutation_p.Q144*	p.Q284*	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	1092	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		261			Pro-rich.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Nonsense_Mutation	SNP	ENST00000236938.6	37	c.850C>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817987	0.90790	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	.	.	.	5.81	4.87	0.63330	.	0.410667	0.21013	N	0.081659	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.4064	0.55443	0.1665:0.8335:0.0:0.0	.	.	.	.	X	278;284;189;144;267;138;172;127;267	.	ENSP00000236938:Q278X	Q	+	1	0	FCRLA	159948629	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.902000	0.28459	2.746000	0.94184	0.591000	0.81541	CAG		0.527	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		T	161682005	C	T	161682005	4	4	200	1	0	0	0	0	0	1	0	0	5800	711	25	3	868	3	FCRLA	1	161682005	Nonsense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	110242422	161682005	87568616	7	14060											
RYR2	6262	broad.mit.edu	37	chr1	237754030	237754030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcaacactgatatcAtgttttatcgcctgagcatg	13	11	8	9	1	1	3	1	2	0	1	2	3	1	3	1	0	4	3	1	0	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:237754030A>G	ENST00000366574.2	+	31	4215	c.3898A>G	c.(3898-3900)Atg>Gtg	p.M1300V	RYR2_ENST00000542537.1_Missense_Mutation_p.M1284V|RYR2_ENST00000360064.6_Missense_Mutation_p.M1298V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1300	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTGATATCATGTTTTATCG	0.522																																						uc001hyl.1																			0		p.F1299Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3898-3900)Atg>Gtg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							242	230	234					1																	237754030		1975	4165	6140	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754030A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3898A>G	1.37:g.237754030A>G	ENSP00000355533:p.Met1300Val						p.M1300V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	4018	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1300			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3898A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	a	4.554	0.102960	0.08731	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96168	-3.93;-3.89;-3.92	5.03	5.03	0.67393	.	0.079983	0.50627	D	0.000107	D	0.87505	0.6194	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83463	0.0055	10	0.37606	T	0.19	.	11.2514	0.49028	0.8472:0.1528:0.0:0.0	.	1300	Q92736	RYR2_HUMAN	V	1300;1298;1284	ENSP00000355533:M1300V;ENSP00000353174:M1298V;ENSP00000443798:M1284V	ENSP00000353174:M1298V	M	+	1	0	RYR2	235820653	0.996000	0.38824	1.000000	0.80357	0.239000	0.25481	2.515000	0.45512	2.241000	0.73720	0.533000	0.62120	ATG		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237754030	A	G	237754030	3	3	200	1	0	0	0	0	1	0	0	0	13769	217	8	4	4020	4	RYR2	1	237754030	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08	76072025	237754030	11496591	8	14061											
TEKT4	150483	broad.mit.edu	37	chr2	95539765	95539765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggtcagacaagatggagGcctacaacatcgacgagacc	14	5	11	11	2	1	3	1	0	0	3	2	6	1	4	2	3	2	0	2	3	3	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:95539765G>A	ENST00000295201.4	+	3	762	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	209					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAAGATGGAGGCCTACAACAT	0.652																																						uc002stw.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-627)Gcc>Acc		Homo sapiens tektin 4 (TEKT4), mRNA.							91	88	89					2																	95539765		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539765G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.625G>A	2.37:g.95539765G>A	ENSP00000295201:p.Ala209Thr					LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	p.A209T	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			2	718	+			209						Missense_Mutation	SNP	ENST00000295201.4	37	c.625G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698589	0.30142	.	.	ENSG00000163060	ENST00000295201	T	0.06371	3.31	2.24	0.737	0.18314	.	0.182863	0.48286	D	0.000197	T	0.06096	0.0158	L	0.52011	1.625	0.80722	D	1	B	0.28324	0.207	B	0.32465	0.146	T	0.31081	-0.9956	10	0.30078	T	0.28	-12.2838	5.2204	0.15366	0.3102:0.0:0.6898:0.0	.	209	Q8WW24	TEKT4_HUMAN	T	209	ENSP00000295201:A209T	ENSP00000295201:A209T	A	+	1	0	TEKT4	94903492	1.000000	0.71417	0.997000	0.53966	0.123000	0.20343	1.910000	0.39927	0.941000	0.37499	0.306000	0.20318	GCC		0.652	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95539765	G	A	95539765	3	1	200	1	0	0	0	0	1	0	0	0	15752	1203	42	3	635	3	TEKT4	2	95539765	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		95539765	147659608	9	14062											
MARCO	8685	broad.mit.edu	37	chr2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaggcgtggagtgcagcGtctgacccggaaaccctttc	8	7	13	13	4	1	1	0	1	1	0	2	3	1	3	2	3	3	2	2	3	1	1	rs200590124	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:119752091G>A	ENST00000327097.4	+	17	1693	c.1558G>A	c.(1558-1560)Gtc>Atc	p.V520I	MARCO_ENST00000541757.1_Missense_Mutation_p.V442I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.V520I(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTGCAGCGTCTGACCCGG	0.602													G|||	2	0.000399361	0	0	5008	,	,		19902	0.001		0.001	False		,,,				2504	0				GBM(8;18 374 7467 11269 32796)	uc002tln.1																			3	Substitution - Missense(3)	p.V520I(6)	large_intestine(1)|lung(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(1558-1560)Gtc>Atc		Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.		G	ILE/VAL	0,4406		0,0,2203	113	88	96		1558	-1.5	0	2		96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MARCO	NM_006770.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	520/521	119752091	1,13005	2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119752091G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1558G>A	2.37:g.119752091G>A	ENSP00000318916:p.Val520Ile					MARCO_uc010yyf.1_Missense_Mutation_p.V442I	p.V520I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			16	1690	+			520					B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1558G>A	CCDS2124.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	0.017	-1.509622	0.00984	0.0	1.16E-4	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.90788	-2.73;-2.69	0.758	-1.52	0.08637	.	.	.	.	.	D	0.85427	0.5694	M	0.65677	2.01	0.09310	N	1	P	0.42692	0.787	B	0.35240	0.198	T	0.71583	-0.4549	8	.	.	.	.	6.6215	0.22806	0.3734:0.0:0.6266:0.0	.	520	Q9UEW3	MARCO_HUMAN	I	520;466;442	ENSP00000318916:V520I;ENSP00000441769:V442I	.	V	+	1	0	MARCO	119468561	0.003000	0.15002	0.007000	0.13788	0.002000	0.02628	-0.355000	0.07671	-2.165000	0.00781	-2.299000	0.00261	GTC		0.602	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		A	119752091	G	A	119752091	3	1	200	1	0	0	0	0	1	0	0	0	9311	1145	40	1	1624	1	MARCO	2	119752091	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	24212326	119752091	123447282	10	14063											
NEB	4703	broad.mit.edu	37	chr2	152484105	152484105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgggcaggcacgtccactCgtgcaggtagttcttgtagt	6	11	14	10	3	1	0	0	0	1	0	4	0	2	0	1	3	1	6	1	3	2	4	rs374359052		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:152484105C>T	ENST00000172853.10	-	65	9493	c.9346G>A	c.(9346-9348)Gag>Aag	p.E3116K	NEB_ENST00000409198.1_Missense_Mutation_p.E3116K|NEB_ENST00000603639.1_Missense_Mutation_p.E3359K|NEB_ENST00000397345.3_Missense_Mutation_p.E3359K|NEB_ENST00000604864.1_Missense_Mutation_p.E3359K|NEB_ENST00000427231.2_Missense_Mutation_p.E3359K			P20929	NEBU_HUMAN	nebulin	3116					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACGTCCACTCGTGCAGGTAG	0.532																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9346-9348)Gag>Aag		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4223		0,1,2111	271	268	269		9346,10075,10075	1.6	1	2		269	0,8438		0,0,4219	no	missense,missense,missense	NEB	NM_004543.4,NM_001164508.1,NM_001164507.1	56,56,56	0,1,6330	TT,TC,CC		0.0,0.0237,0.0079	benign,benign,benign	3116/6670,3359/8526,3359/8526	152484105	1,12661	2112	4219	6331	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484105C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9346G>A	2.37:g.152484105C>T	ENSP00000172853:p.Glu3116Lys					NEB_uc002txu.3_Missense_Mutation_p.E3359K|NEB_uc021vrc.1_Missense_Mutation_p.E3359K|NEB_uc010fnx.3_Missense_Mutation_p.E3104K|NEB_uc021vrd.1_Missense_Mutation_p.E3116K	p.E3116K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	63	9375	-			3116					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9346G>A		.	.	.	.	.	.	.	.	.	.	C	12.73	2.026652	0.35797	2.37E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.58	1.63	0.23807	.	0.222816	0.46442	D	0.000300	T	0.20780	0.0500	N	0.12182	0.205	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.06972	-1.0797	10	0.10636	T	0.68	.	18.2507	0.90002	0.0:0.4579:0.5421:0.0	.	3116	P20929	NEBU_HUMAN	K	3116;3359;3359;3116	ENSP00000386259:E3116K;ENSP00000380505:E3359K;ENSP00000416578:E3359K;ENSP00000172853:E3116K	ENSP00000172853:E3116K	E	-	1	0	NEB	152192351	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.587000	0.23909	0.309000	0.22966	-0.796000	0.03273	GAG		0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152484105	C	T	152484105	3	4	200	1	0	0	0	0	1	0	0	0	10302	893	31	2	16067	2	NEB	2	152484105	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	32732014	152484105	90715268	11	14064											
LRP2	4036	broad.mit.edu	37	chr2	170044684	170044684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttactaatgcagcgccCgttctgacaggtaaactgat	10	12	10	9	2	1	2	0	2	1	0	1	2	1	2	1	2	4	4	1	2	4	5	rs376039022		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:170044684C>T	ENST00000263816.3	-	49	9409	c.9124G>A	c.(9124-9126)Ggg>Agg	p.G3042R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3042	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATGCAGCGCCCGTTCTGACAG	0.512																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9124-9126)Ggg>Agg		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	ARG/GLY	0,4406		0,0,2203	142	135	137		9124	5.7	0.4	2		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3042/4656	170044684	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044684C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9124G>A	2.37:g.170044684C>T	ENSP00000263816:p.Gly3042Arg						p.G3042R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	48	9337	-			3042			LDL-receptor class A 24.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9124G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698976	0.88830	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.92805	-3.11	5.68	5.68	0.88126	.	0.049651	0.85682	D	0.000000	D	0.96052	0.8714	M	0.85542	2.76	0.80722	D	1	D	0.67145	0.996	P	0.61003	0.882	D	0.95373	0.8466	10	0.45353	T	0.12	.	19.7861	0.96437	0.0:1.0:0.0:0.0	.	3042	P98164	LRP2_HUMAN	R	3042	ENSP00000263816:G3042R	ENSP00000263816:G3042R	G	-	1	0	LRP2	169752930	1.000000	0.71417	0.425000	0.26659	0.890000	0.51754	7.818000	0.86416	2.677000	0.91161	0.650000	0.86243	GGG		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170044684	C	T	170044684	3	4	200	1	0	0	0	0	1	0	0	0	8956	652	23	2	4967	2	LRP2	2	170044684	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	17560579	170044684	73154689	12	14065											
TTN	7273	broad.mit.edu	37	chr2	179437646	179437646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaggttccccaagtccttCggaattcatggcatagatgc	9	10	11	11	1	1	1	1	0	0	1	4	2	3	2	3	4	1	3	3	4	3	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:179437646C>T	ENST00000591111.1	-	276	68514	c.68290G>A	c.(68290-68292)Gaa>Aaa	p.E22764K	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21837K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15465K|TTN_ENST00000460472.2_Missense_Mutation_p.E15340K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15532K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E24405K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22764	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGTCCTTCGGAATTCATG	0.488																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65509-65511)Gaa>Aaa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84	85	85					2																	179437646		1947	4142	6089	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437646C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68290G>A	2.37:g.179437646C>T	ENSP00000465570:p.Glu22764Lys					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15532K|TTN_uc021vta.1_Missense_Mutation_p.E15465K|TTN_uc021vtb.1_Missense_Mutation_p.E15340K	p.E21837K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	65734	-			22764			Fibronectin type-III 58.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.65509G>A		.	.	.	.	.	.	.	.	.	.	C	16.45	3.127645	0.56721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60715	0.2290	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.989	P;P;P;P	0.56648	0.803;0.803;0.803;0.734	T	0.62177	-0.6909	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	15340;15465;15532;22764	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	21837;15340;15532;15465;15338	ENSP00000343764:E21837K;ENSP00000434586:E15340K;ENSP00000340554:E15532K;ENSP00000352154:E15465K	ENSP00000340554:E15532K	E	-	1	0	TTN	179145892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.813000	0.96785	0.655000	0.94253	GAA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179437646	C	T	179437646	3	4	200	1	0	0	0	0	1	0	0	0	16732	893	31	2	34914	2	TTN	2	179437646	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	9392962	179437646	63761727	13	14066											
ITGA4	3676	broad.mit.edu	37	chr2	182360569	182360569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagtcagtaaatagaaCgaaatttgactgtgttgaaa	15	11	9	6	1	1	4	1	3	0	1	1	5	1	4	1	0	1	2	1	0	6	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:182360569C>T	ENST00000397033.2	+	14	1875	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	482					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTAAATAGAACGAAATTTGAC	0.388																																						uc002unu.3																			0		p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1444-1446)aCg>aTg		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)						168	151	156					2																	182360569		1899	4125	6024	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360569C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1445C>T	2.37:g.182360569C>T	ENSP00000380227:p.Thr482Met					ITGA4_uc010frj.1_5'Flank	p.T482M	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		13	2208	+			482					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1445C>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322251	0.81580	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.48201	0.82;0.82	5.8	5.8	0.92144	Integrin alpha-2 (1);	0.107611	0.64402	D	0.000004	T	0.70185	0.3195	M	0.71036	2.16	0.53688	D	0.999971	D	0.89917	1.0	D	0.77004	0.989	T	0.70938	-0.4736	10	0.66056	D	0.02	.	20.0586	0.97663	0.0:1.0:0.0:0.0	.	482	P13612	ITA4_HUMAN	M	482	ENSP00000380227:T482M;ENSP00000233573:T482M	ENSP00000233573:T482M	T	+	2	0	ITGA4	182068814	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.677000	0.68142	2.741000	0.93983	0.650000	0.86243	ACG		0.388	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182360569	C	T	182360569	3	4	200	1	0	0	0	0	1	0	0	0	7878	536	19	1	1499	1	ITGA4	2	182360569	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	2922923	182360569	60838804	14	14067											
BARD1	580	broad.mit.edu	37	chr2	215646041	215646041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacatctgcaggaggaCttggggaaacaaattcatat	16	8	10	7	0	2	1	1	0	1	1	2	4	2	4	0	4	3	1	0	4	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:215646041C>T	ENST00000260947.4	-	4	691	c.557G>A	c.(556-558)aGt>aAt	p.S186N	BARD1_ENST00000449967.2_Missense_Mutation_p.S42N|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	186			S -> G (in dbSNP:rs16852741).		cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCAGGAGGACTTGGGGAAAC	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(556-558)aGt>aAt		Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.							89	90	90					2																	215646041		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646041C>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.557G>A	2.37:g.215646041C>T	ENSP00000260947:p.Ser186Asn					BARD1_uc021vwe.1_Missense_Mutation_p.S167N|BARD1_uc021vwf.1_Missense_Mutation_p.S89N|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.S42N|BARD1_uc021vwj.1_Missense_Mutation_p.S186N	p.S186N	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	3	692	-		Renal(323;0.0243)	186		S -> G (in dbSNP:rs16852741).			F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.557G>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266296	0.40095	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74947	-0.89;-0.29	5.75	-3.68	0.04463	.	0.422784	0.27650	N	0.018421	T	0.72170	0.3427	M	0.66939	2.045	0.09310	N	0.999996	B;B	0.32573	0.368;0.376	B;B	0.33196	0.159;0.084	T	0.67852	-0.5563	10	0.66056	D	0.02	-15.7991	21.4666	0.99954	0.0:0.1312:0.8044:0.0644	.	42;186	E7EUI3;Q99728	.;BARD1_HUMAN	N	186;42	ENSP00000260947:S186N;ENSP00000406752:S42N	ENSP00000260947:S186N	S	-	2	0	BARD1	215354286	0.481000	0.25941	0.123000	0.21794	0.011000	0.07611	0.040000	0.13905	-0.368000	0.08040	-0.986000	0.02555	AGT		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		T	215646041	C	T	215646041	3	4	200	1	0	0	0	0	1	0	0	0	1312	565	20	3	1808	3	BARD1	2	215646041	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	33285472	215646041	27553332	15	14068											
SPEG	10290	broad.mit.edu	37	chr2	220342016	220342016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgaggtgctgctgacCgagagcagccatgtgagctt	9	7	15	10	2	0	3	0	2	0	1	0	6	0	4	2	2	5	4	2	2	0	1	rs202153500		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:220342016C>T	ENST00000312358.7	+	20	4710	c.4578C>T	c.(4576-4578)acC>acT	p.T1526T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1526	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCTGCTGACCGAGAGCAGCC	0.642													C|||	1	0.000199681	0	0.0014	5008	,	,		15426	0		0	False		,,,				2504	0					uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4576-4578)acC>acT		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							45	50	48					2																	220342016		2151	4238	6389	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220342016C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4578C>T	2.37:g.220342016C>T							p.T1526T	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	19	4578	+		Renal(207;0.0183)	1526			Ig-like 8.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4578C>T	CCDS42824.1																																																																																				0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220342016	C	T	220342016	2	4	200	1	0	0	0	0	0	0	0	1	15035	639	23	2		2	SPEG	2	220342016	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	4695975	220342016	22857357	16	14069											
FGD5	152273	broad.mit.edu	37	chr3	14861789	14861789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctccctacagggtggagCggccgagggtcccgcagccc	5	5	16	15	3	0	0	0	0	0	0	2	2	2	1	4	5	3	2	4	5	1	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:14861789C>T	ENST00000285046.5	+	1	1321	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	FGD5_ENST00000543601.1_Missense_Mutation_p.A163V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	404					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGGTGGAGCGGCCGAGGGT	0.647																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1210-1212)gCg>gTg		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							24	29	27					3																	14861789		2019	4153	6172	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861789C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1211C>T	3.37:g.14861789C>T	ENSP00000285046:p.Ala404Val					FGD5_uc011avk.2_Missense_Mutation_p.A404V	p.A404V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1321	+			404					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1211C>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	c	10.11	1.259111	0.23051	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76578	-1.03;-0.92	4.54	0.433	0.16534	.	1.186460	0.06137	N	0.671774	T	0.59662	0.2210	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.08055	0.003;0.002	T	0.35025	-0.9805	10	0.18710	T	0.47	-1.517	1.1529	0.01790	0.1458:0.3639:0.1421:0.3482	.	163;404	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	V	404;163	ENSP00000285046:A404V;ENSP00000445949:A163V	ENSP00000285046:A404V	A	+	2	0	FGD5	14836793	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.113000	0.15499	0.060000	0.16281	-1.282000	0.01380	GCG		0.647	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		T	14861789	C	T	14861789	3	4	200	1	0	0	0	0	1	0	0	0	5836	768	27	1	1213	1	FGD5	3	14861789	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		14861789	183160641	17	14070											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	11	12	9	9	2	1	1	1	1	0	0	3	2	2	2	2	2	0	3	2	2	4	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	uc003eet.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	Abatacept(DB01281)						143	142	142					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His					CD86_uc011bjo.2_Missense_Mutation_p.R3H|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.R79H|CD86_uc021xcz.1_Missense_Mutation_p.R79H	p.R85H	NM_175862	NP_008820	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	2	382	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		A	121822548	G	A	121822548	3	1	200	1	0	0	0	0	1	0	0	0	3043	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	106960759	121822548	76199882	18	14071											
SLBP	7884	broad.mit.edu	37	chr4	1701407	1701407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagccggcacagtagaCatagactcctttgaatcaga	14	8	9	10	1	2	4	2	1	0	3	3	4	3	4	2	1	1	2	2	1	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:1701407C>T	ENST00000489418.1	-	5	729	c.363G>A	c.(361-363)atG>atA	p.M121I	SLBP_ENST00000488267.1_Missense_Mutation_p.M86I|SLBP_ENST00000429429.2_Missense_Mutation_p.M82I|SLBP_ENST00000318386.4_Missense_Mutation_p.M128I	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	121					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			GCACAGTAGACATAGACTCCT	0.393																																						uc003gdi.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(361-363)atG>atA		Homo sapiens stem-loop binding protein (SLBP), mRNA.							104	97	99					4																	1701407		2203	4300	6503	SO:0001583	missense	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1701407C>T	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"histone binding protein"	602422	"stem-loop (histone) binding protein"			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.363G>A	4.37:g.1701407C>T	ENSP00000417686:p.Met121Ile					SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc011bvf.1_Missense_Mutation_p.M86I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I	p.M121I	NM_006527	NP_006518	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		4	478	-		Breast(71;0.212)|all_epithelial(65;0.241)	121					B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	37	c.363G>A	CCDS3350.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.922|8.922|8.922	0.961340|0.961340|0.961340	0.18583|0.18583|0.18583	.|.|.	.|.|.	ENSG00000163950|ENSG00000163950|ENSG00000163950	ENST00000483348|ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000480936	.|.|.	.|.|.	.|.|.	4.56|4.56|4.56	-0.984|-0.984|-0.984	0.10259|0.10259|0.10259	.|.|.	.|2.209180|.	.|0.01948|.	.|N|.	.|0.042387|.	T|T|T	0.08403|0.08403|0.08403	0.0209|0.0209|0.0209	N|N|N	0.02539|0.02539|0.02539	-0.55|-0.55|-0.55	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B|.	.|0.10296|.	.|0.003;0.003;0.001;0.0;0.001|.	.|B;B;B;B;B|.	.|0.11329|.	.|0.004;0.002;0.002;0.001;0.006|.	T|T|T	0.29212|0.29212|0.29212	-1.0019|-1.0019|-1.0019	5|9|5	.|0.30854|.	.|T|.	.|0.27|.	-15.1565|-15.1565|-15.1565	0.5572|0.5572|0.5572	0.00673|0.00673|0.00673	0.1766:0.3257:0.1731:0.3247|0.1766:0.3257:0.1731:0.3247|0.1766:0.3257:0.1731:0.3247	.|.|.	.|86;128;82;101;121|.	.|E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.	.|.;.;.;.;SLBP_HUMAN|.	Y|I|I	76|82;121;101;128;86|129	.|.|.	.|ENSP00000316490:M128I|.	C|M|V	-|-|-	2|3|1	0|0|0	SLBP|SLBP|SLBP	1671205|1671205|1671205	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.301000|0.301000|0.301000	0.27625|0.27625|0.27625	-0.453000|-0.453000|-0.453000	0.06778|0.06778|0.06778	-0.087000|-0.087000|-0.087000	0.12528|0.12528|0.12528	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	TGT|ATG|GTC		0.393	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527		T	1701407	C	T	1701407	3	4	200	1	0	0	0	0	1	0	0	0	14372	478	17	3	465	3	SLBP	4	1701407	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		1701407	189452869	19	14072											
ANK2	287	broad.mit.edu	37	chr4	114278539	114278539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgaaatctatgatcCacaaatcactagcccttatg	15	11	6	9	0	2	3	1	3	1	0	3	4	3	3	2	0	1	0	2	0	6	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:114278539C>T	ENST00000357077.4	+	38	8818	c.8765C>T	c.(8764-8766)cCa>cTa	p.P2922L	ANK2_ENST00000264366.6_Missense_Mutation_p.P2889L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2922					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTATGATCCACAAATCACT	0.408																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8764-8766)cCa>cTa		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							198	202	200					4																	114278539		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278539C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8765C>T	4.37:g.114278539C>T	ENSP00000349588:p.Pro2922Leu					ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2937L	p.P2922L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	37	8865	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2889					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8765C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860408	0.02610	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69806	-0.4;-0.43	5.58	3.87	0.44632	.	0.353035	0.24204	N	0.040584	T	0.62575	0.2439	M	0.66939	2.045	0.27208	N	0.959995	B;B	0.16166	0.009;0.016	B;B	0.16722	0.007;0.016	T	0.52170	-0.8611	9	.	.	.	.	11.0933	0.48130	0.0:0.7605:0.1115:0.128	.	2889;2922	Q01484;Q01484-4	ANK2_HUMAN;.	L	2922;2889	ENSP00000349588:P2922L;ENSP00000264366:P2889L	.	P	+	2	0	ANK2	114497988	0.010000	0.17322	0.111000	0.21465	0.001000	0.01503	1.065000	0.30592	0.316000	0.23135	-0.795000	0.03280	CCA		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114278539	C	T	114278539	3	4	200	1	0	0	0	0	1	0	0	0	621	594	21	3	8980	3	ANK2	4	114278539	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	112577132	114278539	76875737	20	14073											
ZFP42	132625	broad.mit.edu	37	chr4	188924445	188924445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatacctggcattgacCtatcagatcctaaacagctc	13	9	8	11	0	1	2	1	1	0	1	3	4	2	3	3	2	3	2	3	2	5	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:188924445C>G	ENST00000326866.4	+	4	892	c.484C>G	c.(484-486)Cta>Gta	p.L162V	ZFP42_ENST00000509524.1_Missense_Mutation_p.L162V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	162					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGCATTGACCTATCAGATCC	0.453																																						uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(484-486)Cta>Gta		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							103	117	112					4																	188924445		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924445C>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.484C>G	4.37:g.188924445C>G	ENSP00000317686:p.Leu162Val					ZFP42_uc003izi.1_Missense_Mutation_p.L162V|ZFP42_uc021xvm.1_Missense_Mutation_p.L162V	p.L162V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	892	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	162					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.484C>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.140784	0.37825	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.66099	-0.19;-0.19	4.31	-6.83	0.01693	.	0.196730	0.30028	U	0.010584	T	0.39784	0.1091	L	0.41824	1.3	0.22728	N	0.998806	P	0.37122	0.583	B	0.36922	0.236	T	0.32375	-0.9909	10	0.34782	T	0.22	.	3.8625	0.09002	0.0964:0.285:0.0982:0.5204	.	162	Q96MM3	ZFP42_HUMAN	V	162	ENSP00000317686:L162V;ENSP00000424662:L162V	ENSP00000317686:L162V	L	+	1	2	ZFP42	189161439	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-0.453000	0.06778	-1.729000	0.01364	-3.021000	0.00074	CTA		0.453	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		G	188924445	C	G	188924445	3	3	200	1	0	0	0	0	1	0	0	0	17647	680	24	5	486	5	ZFP42	4	188924445	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	74645906	188924445	2229831	21	14074											
PCDHB16	57717	broad.mit.edu	37	chr5	140563779	140563779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggcgctggtgcgcGtgctggtgctggacgccaac	5	6	18	12	5	0	0	0	0	0	0	0	2	0	1	1	4	5	4	1	4	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:140563779G>T	ENST00000361016.2	+	1	2800	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTGCTGGTGCT	0.711																																						uc003liv.3																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1645-1647)Gtg>Ttg		Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.							12	13	13					5																	140563779		1871	3589	5460	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563779G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1645G>T	5.37:g.140563779G>T	ENSP00000354293:p.Val549Leu						p.V549L	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2800	+			549			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1645G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.284523	0.80803	.	.	ENSG00000196963	ENST00000361016	T	0.61040	0.14	4.12	4.12	0.48240	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31404	N	0.007710	T	0.58793	0.2147	M	0.74647	2.275	0.33977	D	0.647463	P	0.41080	0.737	P	0.45276	0.475	T	0.66352	-0.5945	10	0.19147	T	0.46	.	9.8845	0.41253	0.0969:0.0:0.9031:0.0	.	549	Q9NRJ7	PCDBG_HUMAN	L	549	ENSP00000354293:V549L	ENSP00000354293:V549L	V	+	1	0	PCDHB16	140543963	0.606000	0.26949	0.991000	0.47740	0.935000	0.57460	0.688000	0.25422	1.860000	0.53959	0.479000	0.44913	GTG		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140563779	G	T	140563779	3	4	200	1	0	0	0	0	1	0	0	0	11541	1145	40	5	1647	5	PCDHB16	5	140563779	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		140563779	40351481	22	14075											
GABRG2	2566	broad.mit.edu	37	chr5	161580200	161580200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggctatgagtgtctggaCggcaaggactgtgccagttt	8	11	14	8	2	1	1	0	1	1	0	1	3	1	3	1	4	2	3	1	4	3	3	rs113085352		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:161580200C>T	ENST00000361925.4	+	9	1450	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	GABRG2_ENST00000414552.2_Silent_p.D458D|GABRG2_ENST00000356592.3_Silent_p.D418D|GABRG2_ENST00000393933.4_Silent_p.D315D			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	410					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D418D(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTGTCTGGACGGCAAGGACT	0.463													c|||	1	0.000199681	0	0	5008	,	,		21402	0.001		0	False		,,,				2504	0					uc010jjc.3																			1	Substitution - coding silent(1)	p.D418D(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1372-1374)gaC>gaT		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							205	189	195					5																	161580200		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580200C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1230C>T	5.37:g.161580200C>T						GABRG2_uc003lyy.4_Silent_p.D418D|GABRG2_uc003lyz.4_Silent_p.D410D|GABRG2_uc011dej.2_Silent_p.D315D	p.D458D	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1732	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	410					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1374C>T	CCDS4358.1																																																																																				0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161580200	C	T	161580200	2	4	200	1	0	0	0	0	0	0	0	1	6172	535	19	1		1	GABRG2	5	161580200	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	21016421	161580200	19335060	23	14076											
RFX6	222546	broad.mit.edu	37	chr6	117232121	117232121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcactcgtaaatattcGcttagctcaaaaactggaac	13	11	7	10	2	2	0	2	0	0	0	4	1	2	1	0	2	3	4	0	2	7	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr6:117232121G>A	ENST00000332958.2	+	7	712	c.696G>A	c.(694-696)tcG>tcA	p.S232S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	232					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAAATATTCGCTTAGCTCAA	0.343																																						uc003pxm.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(694-696)tcG>tcA		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							101	104	103					6																	117232121		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117232121G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.696G>A	6.37:g.117232121G>A							p.S232S	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			6	759	+			232					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.696G>A	CCDS5113.1																																																																																				0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		A	117232121	G	A	117232121	2	1	200	1	0	0	0	0	0	0	0	1	13267	1074	38	1		1	RFX6	6	117232121	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		117232121	53882946	24	14077											
CD36	948	broad.mit.edu	37	chr7	80300317	80300317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatgctgtatttgaatcCgacgttaatctgaaaggaat	13	14	8	6	2	2	2	0	2	2	0	3	4	3	3	1	1	1	3	1	1	6	4	rs372529585		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80300317C>T	ENST00000435819.1	+	13	1527	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CD36_ENST00000394788.3_Silent_p.S281S|CD36_ENST00000309881.7_Silent_p.S281S|CD36_ENST00000538969.1_Silent_p.S221S|CD36_ENST00000544133.1_Intron|CD36_ENST00000433696.2_Silent_p.S242S|CD36_ENST00000534394.1_Silent_p.S205S|CD36_ENST00000447544.2_Silent_p.S281S|CD36_ENST00000432207.1_Silent_p.S281S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	281					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TATTTGAATCCGACGTTAATC	0.388																																						uc003uhc.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(841-843)tcC>tcT		Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	178	183	181		843,843,843,843,843	-5.9	0	7		181	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	281/473,281/473,281/473,281/473,281/473	80300317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80300317C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.843C>T	7.37:g.80300317C>T						CD36_uc011kgv.2_Silent_p.S205S|CD36_uc003uhd.4_Silent_p.S281S|CD36_uc003uhe.4_Silent_p.S281S|CD36_uc003uhf.4_Silent_p.S281S|CD36_uc003uhg.4_Silent_p.S281S|CD36_uc003uhh.4_Silent_p.S281S|CD36_uc022agu.1_Silent_p.S242S|CD36_uc022agv.1_Silent_p.S221S	p.S281S	NM_001127444	NP_001120916	P16671	CD36_HUMAN			12	1527	+			281					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.843C>T	CCDS34673.1																																																																																				0.388	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		T	80300317	C	T	80300317	2	4	200	1	0	0	0	0	0	0	0	1	3007	639	23	2		2	CD36	7	80300317	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08		80300317	78838346	25	14078											
SEMA3C	10512	broad.mit.edu	37	chr7	80434993	80434993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgttgatcagttctgaccGcattcctcttggttaaactt	8	17	7	9	1	3	2	1	2	2	0	4	2	4	2	2	1	1	4	2	1	3	7			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80434993G>A	ENST00000265361.3	-	7	1181	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A207V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A225V|SEMA3C_ENST00000536800.1_Missense_Mutation_p.A59V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	207	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTTCTGACCGCATTCCTCTT	0.323																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(673-675)gCg>gTg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							96	86	89					7																	80434993		2203	4297	6500	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80434993G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.620C>T	7.37:g.80434993G>A	ENSP00000265361:p.Ala207Val					SEMA3C_uc003uhj.3_Missense_Mutation_p.A207V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	p.A225V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			6	753	-			207			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.674C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259682	0.59321	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.159786	0.56097	D	0.000037	T	0.12178	0.0296	L	0.33137	0.985	0.80722	D	1	B;B;P	0.34815	0.065;0.415;0.47	B;B;B	0.39152	0.025;0.193;0.292	T	0.19353	-1.0308	10	0.17832	T	0.49	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	59;225;207	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	V	207;207;225;59	ENSP00000265361:A207V;ENSP00000411193:A207V;ENSP00000445649:A225V;ENSP00000438258:A59V	ENSP00000265361:A207V	A	-	2	0	SEMA3C	80272929	1.000000	0.71417	0.969000	0.41365	0.932000	0.56968	9.835000	0.99442	2.403000	0.81681	0.591000	0.81541	GCG		0.323	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80434993	G	A	80434993	3	1	200	1	0	0	0	0	1	0	0	0	14026	1087	38	1	1683	1	SEMA3C	7	80434993	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	134676	80434993	78703670	26	14079											
TES	26136	broad.mit.edu	37	chr7	115892026	115892026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgatgtgctggctgtgaCgaggtatgttctatgggacc	6	11	14	10	2	1	1	0	1	1	0	1	4	1	2	3	3	1	4	3	3	2	3	rs201867376		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:115892026C>T	ENST00000358204.4	+	5	1130	c.915C>T	c.(913-915)gaC>gaT	p.D305D	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Silent_p.D296D|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Silent_p.D63D	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	305	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTGGCTGTGACGAGGTATGTT	0.478																																						uc003vho.3																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(913-915)gaC>gaT		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							64	57	60					7																	115892026		2203	4300	6503	SO:0001819	synonymous_variant	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115892026C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.915C>T	7.37:g.115892026C>T						TES_uc011kmy.2_Silent_p.D63D|TES_uc003vhp.3_Silent_p.D296D|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	p.D305D	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		4	1130	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	305			LIM zinc-binding 2.		A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	c.915C>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951518	0.18431	.	.	ENSG00000135269	ENST00000393484	.	.	.	5.61	1.6	0.23607	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50233	-0.8852	4	.	.	.	-34.3172	9.4875	0.38940	0.0:0.2745:0.0:0.7255	.	.	.	.	M	92	.	.	T	+	2	0	TES	115679262	0.988000	0.35896	1.000000	0.80357	0.941000	0.58515	0.172000	0.16704	0.125000	0.18397	-0.290000	0.09829	ACG		0.478	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		T	115892026	C	T	115892026	2	4	200	1	0	0	0	0	0	0	0	1	15762	535	19	1		1	TES	7	115892026	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	35457033	115892026	43246637	27	14080											
WEE2	494551	broad.mit.edu	37	chr7	141408767	141408767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgagctcgacacatcttCggaaaaagacaaagaaagtc	17	6	9	9	2	1	3	0	1	1	2	4	5	1	4	0	1	1	2	0	1	4	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:141408767C>T	ENST00000397541.2	+	1	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	70					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GACACATCTTCGGAAAAAGAC	0.517																																						uc003vwn.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(208-210)tCg>tTg		Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.							161	158	159					7																	141408767		1958	4152	6110	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408767C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.209C>T	7.37:g.141408767C>T	ENSP00000380675:p.Ser70Leu					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.S70L	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			0	615	+	Melanoma(164;0.0171)		70						Missense_Mutation	SNP	ENST00000397541.2	37	c.209C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	3.961	-0.010277	0.07727	.	.	ENSG00000214102	ENST00000397541	T	0.20598	2.06	4.78	-7.53	0.01336	.	15.423900	0.00559	U	0.000265	T	0.05777	0.0151	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	10	0.10377	T	0.69	.	3.5193	0.07736	0.1769:0.1195:0.4599:0.2436	.	70	P0C1S8	WEE2_HUMAN	L	70	ENSP00000380675:S70L	ENSP00000380675:S70L	S	+	2	0	WEE2	141055236	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-1.482000	0.02320	-1.543000	0.01723	-1.146000	0.01853	TCG		0.517	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		T	141408767	C	T	141408767	3	4	200	1	0	0	0	0	1	0	0	0	17342	893	31	2	211	2	WEE2	7	141408767	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	25516741	141408767	17729896	28	14081											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060365	144060365	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgaaggctctgaaagTgggactatcaggcaggggga	13	6	16	6	0	2	3	1	2	1	1	2	5	2	5	0	5	0	2	0	5	4	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:144060365T>A	ENST00000056217.5	+	2	777	c.603T>A	c.(601-603)agT>agA	p.S201R	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	201					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTGAAAGTGGGACTATCA	0.532																																						uc003wel.3																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(601-603)agT>agA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.							182	197	192					7																	144060365		2183	4274	6457	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060365T>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.603T>A	7.37:g.144060365T>A	ENSP00000056217:p.Ser201Arg					ARHGEF5_uc003wek.3_Missense_Mutation_p.S201R	p.S201R	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			1	721	+	Melanoma(164;0.14)		201					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.603T>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	T	9.661	1.144233	0.21205	.	.	ENSG00000050327	ENST00000056217	T	0.74737	-0.87	4.01	-0.354	0.12591	.	1.494070	0.04859	U	0.443728	T	0.62514	0.2434	L	0.46157	1.445	0.09310	N	1	B	0.26002	0.139	B	0.21917	0.037	T	0.40701	-0.9549	9	.	.	.	.	1.5227	0.02519	0.1656:0.1124:0.1706:0.5513	.	201	Q12774	ARHG5_HUMAN	R	201	ENSP00000056217:S201R	.	S	+	3	2	ARHGEF5	143691298	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.026000	0.13599	0.113000	0.18004	0.528000	0.53228	AGT		0.532	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		A	144060365	T	A	144060365	3	1	200	1	0	0	0	0	1	0	0	0	909	1693	59	5	605	5	ARHGEF5	7	144060365	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08	2651598	144060365	15078298	29	14082											
DOCK5	80005	broad.mit.edu	37	chr8	25190203	25190203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacttccttgtgtttgacGcactggtaagcagttaaaca	11	13	9	8	1	0	2	0	2	0	0	1	2	1	2	1	1	2	5	1	1	3	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25190203G>A	ENST00000276440.7	+	20	2130	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	696					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTGTTTGACGCACTGGTAAG	0.318																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2086-2088)Gca>Aca		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							122	106	111					8																	25190203		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25190203G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2086G>A	8.37:g.25190203G>A	ENSP00000276440:p.Ala696Thr					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T|DOCK5_uc003xei.3_Missense_Mutation_p.A266T|DOCK5_uc003xej.3_Non-coding_Transcript	p.A696T	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	19	2223	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	696					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2086G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.666209|4.666209	0.88251|0.88251	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.71579|.	-0.58|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Armadillo-type fold (1);|.	0.054238|.	0.64402|.	D|.	0.000001|.	T|T	0.78349|0.78349	0.4269|0.4269	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.71184|.	0.972;0.963;0.963|.	T|T	0.75712|0.75712	-0.3222|-0.3222	10|5	0.66056|.	D|.	0.02|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	686;471;696|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	T|H	696|467	ENSP00000276440:A696T|.	ENSP00000276440:A696T|.	A|R	+|+	1|2	0|0	DOCK5|DOCK5	25246120|25246120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.383000|0.383000	0.30230|0.30230	9.775000|9.775000	0.98995|0.98995	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.318	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25190203	G	A	25190203	3	1	200	1	0	0	0	0	1	0	0	0	4690	1087	38	1	2164	1	DOCK5	8	25190203	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		25190203	121173819	30	14083											
DOCK5	80005	broad.mit.edu	37	chr8	25225732	25225732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacatgagaaaggaaatCggctttagaatccgggacat	14	7	14	6	2	0	2	0	1	0	2	2	6	1	5	1	5	0	1	1	5	4	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25225732C>T	ENST00000276440.7	+	32	3293	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1083					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3247-3249)atC>atT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							97	84	88					8																	25225732		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25225732C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3249C>T	8.37:g.25225732C>T						DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	p.I1083I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	31	3386	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1083					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.3249C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251147	0.22880	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.75	0.769	0.18492	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53056	-0.8492	4	.	.	.	.	10.8677	0.46864	0.0:0.5468:0.0:0.4532	.	.	.	.	W	855	.	.	R	+	1	2	DOCK5	25281649	0.206000	0.23470	0.998000	0.56505	0.920000	0.55202	-0.427000	0.06999	0.075000	0.16796	-0.140000	0.14226	CGG		0.413	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25225732	C	T	25225732	2	4	200	1	0	0	0	0	0	0	0	1	4690	874	31	2		2	DOCK5	8	25225732	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	35529	25225732	121138290	31	14084											
NOV	4856	broad.mit.edu	37	chr8	120431487	120431487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatggggttctccaccCgggtcaccaataggaaccgt	8	9	13	11	2	2	0	1	0	1	0	3	1	2	1	4	5	1	2	4	5	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:120431487C>T	ENST00000259526.3	+	4	906	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1548	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GTTCTCCACCCGGGTCACCAA	0.532																																						uc003yoq.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(679-681)Cgg>Tgg		Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						134	128	130					8																	120431487		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120431487C>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.679C>T	8.37:g.120431487C>T	ENSP00000259526:p.Arg227Trp						p.R227W	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	900	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		227			TSP type-1.			Missense_Mutation	SNP	ENST00000259526.3	37	c.679C>T	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038740	0.75617	.	.	ENSG00000136999	ENST00000259526	T	0.80909	-1.43	5.96	3.14	0.36123	.	0.053204	0.64402	D	0.000001	D	0.92987	0.7768	H	0.97491	4.015	0.47862	D	0.999535	D	0.89917	1.0	D	0.78314	0.991	D	0.94398	0.7620	10	0.87932	D	0	-21.3462	14.9589	0.71141	0.4919:0.5081:0.0:0.0	.	227	P48745	NOV_HUMAN	W	227	ENSP00000259526:R227W	ENSP00000259526:R227W	R	+	1	2	NOV	120500668	0.892000	0.30473	0.999000	0.59377	0.903000	0.53119	1.178000	0.31981	0.375000	0.24679	0.655000	0.94253	CGG		0.532	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		T	120431487	C	T	120431487	3	4	200	1	0	0	0	0	1	0	0	0	10553	643	23	2	693	2	NOV	8	120431487	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	95205755	120431487	25932535	32	14085											
CPSF1	29894	broad.mit.edu	37	chr8	145620691	145620691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatagtgggccgtgcagcGcagcgggatcttcctgacag	8	7	14	12	3	1	1	0	1	1	0	2	2	2	2	2	2	3	2	2	2	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:145620691G>A	ENST00000349769.3	-	27	3149	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1019					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.R1019C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGTGCAGCGCAGCGGGATC	0.667																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			1	Substitution - Missense(1)	p.R1019C(2)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3055-3057)Cgc>Tgc		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							48	44	45					8																	145620691		2203	4299	6502	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620691G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3055C>T	8.37:g.145620691G>A	ENSP00000339353:p.Arg1019Cys					MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	p.R1019C	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		26	3130	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1019					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3055C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737659	0.69304	.	.	ENSG00000071894	ENST00000349769	T	0.76578	-1.03	5.0	5.0	0.66597	.	0.056727	0.64402	D	0.000002	D	0.88603	0.6481	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.90086	0.4174	10	0.59425	D	0.04	-14.6449	15.8343	0.78787	0.0:0.0:1.0:0.0	.	1019	Q10570	CPSF1_HUMAN	C	1019	ENSP00000339353:R1019C	ENSP00000339353:R1019C	R	-	1	0	CPSF1	145591499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.409000	0.73289	2.340000	0.79590	0.536000	0.68110	CGC		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145620691	G	A	145620691	3	1	200	1	0	0	0	0	1	0	0	0	3824	1087	38	1	1324	1	CPSF1	8	145620691	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	25189204	145620691	743331	33	14086											
UHRF2	115426	broad.mit.edu	37	chr9	6413501	6413501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgccaagatgtggatacAggttcgcaccattgatggct	10	9	13	9	2	0	2	0	1	0	1	1	3	0	3	2	4	1	3	2	4	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:6413501A>G	ENST00000276893.5	+	1	179	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	UHRF2_ENST00000381373.3_Missense_Mutation_p.Q4R|RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	4	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGTGGATACAGGTTCGCACC	0.662																																						uc003zjy.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(10-12)cAg>cGg		Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.							58	58	58					9																	6413501		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6413501A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.11A>G	9.37:g.6413501A>G	ENSP00000276893:p.Gln4Arg					UHRF2_uc003zjz.3_Non-coding_Transcript	p.Q4R	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	0	351	+		Acute lymphoblastic leukemia(23;0.158)	4			Ubiquitin-like.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.11A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.610749	0.87258	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.41400	1.0;1.0	4.87	4.87	0.63330	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.51422	1.61	0.80722	D	1	P	0.40602	0.723	B	0.36418	0.224	T	0.32241	-0.9914	10	0.46703	T	0.11	-6.9533	14.2948	0.66304	1.0:0.0:0.0:0.0	.	4	Q96PU4	UHRF2_HUMAN	R	4	ENSP00000276893:Q4R;ENSP00000370778:Q4R	ENSP00000276893:Q4R	Q	+	2	0	UHRF2	6403501	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.223000	0.89779	2.043000	0.60533	0.459000	0.35465	CAG		0.662	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		G	6413501	A	G	6413501	3	3	200	1	0	0	0	0	1	0	0	0	16967	188	7	4	13	4	UHRF2	9	6413501	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08		6413501	134799930	34	14087											
IPPK	64768	broad.mit.edu	37	chr9	95400529	95400529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcagccacggggctccGggcatctttgcagccgtaaa	8	7	12	14	3	2	0	1	0	1	0	3	0	3	0	4	3	3	4	4	3	2	2	rs146634367	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:95400529G>A	ENST00000287996.3	-	9	946	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	224					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACGGGGCTCCGGGCATCTTTG	0.562													G|||	3	0.000599042	8e-04	0	5008	,	,		17155	0		0	False		,,,				2504	0.002					uc004asl.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(670-672)Cgg>Tgg		Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	59	64	62		670	4.3	0.9	9	dbSNP_134	62	0,8600		0,0,4300	yes	missense	IPPK	NM_022755.5	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	224/492	95400529	3,13003	2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95400529G>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.670C>T	9.37:g.95400529G>A	ENSP00000287996:p.Arg224Trp					IPPK_uc004ask.1_5'Flank	p.R224W	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			8	947	-			224					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.670C>T	CCDS6699.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.35	3.604350	0.66445	6.81E-4	0.0	ENSG00000127080	ENST00000287996	T	0.32272	1.46	5.24	4.35	0.52113	.	0.479765	0.25660	N	0.029153	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.51229	0.663	T	0.09143	-1.0688	10	0.62326	D	0.03	-15.7908	10.7378	0.46135	0.0718:0.1313:0.7969:0.0	.	224	Q9H8X2	IPPK_HUMAN	W	224	ENSP00000287996:R224W	ENSP00000287996:R224W	R	-	1	2	IPPK	94440350	0.998000	0.40836	0.943000	0.38184	0.898000	0.52572	2.861000	0.48380	1.357000	0.45904	-0.254000	0.11334	CGG		0.562	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		A	95400529	G	A	95400529	3	1	200	1	0	0	0	0	1	0	0	0	7801	1115	39	2	825	2	IPPK	9	95400529	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	88987028	95400529	45812902	35	14088											
KIF5B	3799	broad.mit.edu	37	chr10	32306085	32306085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaccaatctgtgcagaaTgccctcttctggccatattc	10	12	6	13	0	3	1	0	0	3	1	4	1	3	1	3	1	3	1	3	1	4	4	rs200775134		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:32306085T>C	ENST00000302418.4	-	24	3204	c.2747A>G	c.(2746-2748)cAt>cGt	p.H916R	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	916	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGCAGAATGCCCTCTTCT	0.383			T	"RET, ALK"	NSCLC																																	uc001iwe.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2746-2748)cAt>cGt		Homo sapiens kinesin family member 5B (KIF5B), mRNA.		T	ARG/HIS	0,4406		0,0,2203	254	229	237		2747	5.6	1	10		237	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF5B	NM_004521.2	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	916/964	32306085	1,13005	2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32306085T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2747A>G	10.37:g.32306085T>C	ENSP00000307078:p.His916Arg						p.H916R	NM_004521	NP_004512	P33176	KINH_HUMAN			23	3217	-		Prostate(175;0.0137)	916			Globular.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2747A>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385863	0.42308	0.0	1.16E-4	ENSG00000170759	ENST00000302418	D	0.85629	-2.01	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.69823	2.125	0.49798	D	0.999827	B	0.24618	0.107	B	0.25987	0.065	T	0.79926	-0.1597	10	0.15952	T	0.53	.	15.7339	0.77827	0.0:0.0:0.0:1.0	.	916	P33176	KINH_HUMAN	R	916	ENSP00000307078:H916R	ENSP00000307078:H916R	H	-	2	0	KIF5B	32346091	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.895000	0.69814	2.120000	0.65058	0.383000	0.25322	CAT		0.383	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		C	32306085	T	C	32306085	3	2	200	1	0	0	0	0	1	0	0	0	8306	1464	51	4	152	4	KIF5B	10	32306085	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08		32306085	103228662	36	14089											
PTEN	5728	broad.mit.edu	37	chr10	89720857	89720857	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacaaagccaaccgataCttttctccaaattttaaggt	16	11	5	9	1	1	1	0	0	1	1	2	2	1	1	3	1	3	0	3	1	6	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:89720857C>A	ENST00000371953.3	+	8	2365	c.1008C>A	c.(1006-1008)taC>taA	p.Y336*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	336	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.Y336*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAACCGATACTTTTCTCCAA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		57	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(5)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R335*(25)|p.Y336*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*7(1)|p.R335G(1)|p.Y336F(1)|p.R335R(1)	prostate(17)|central_nervous_system(14)|skin(6)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(1006-1008)taC>taA		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							55	57	56					10																	89720857		2203	4297	6500	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720857C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1008C>A	10.37:g.89720857C>A	ENSP00000361021:p.Tyr336*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y336*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2040	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	336			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1008C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	47	13.591684	0.99751	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	-0.801	0.10893	.	0.180480	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0084	6.6321	0.22863	0.1173:0.3839:0.0:0.4988	.	.	.	.	X	336	.	.	Y	+	3	2	PTEN	89710837	0.996000	0.38824	0.979000	0.43373	0.989000	0.77384	0.460000	0.21924	-0.467000	0.06932	-0.218000	0.12543	TAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89720857	C	A	89720857	4	1	200	1	0	0	0	0	0	1	0	0	12738	576	20	5	1038	5	PTEN	10	89720857	Nonsense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	57414772	89720857	45813890	37	14090											
SLC6A13	6540	broad.mit.edu	37	chr12	333249	333249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgcggaacacgtgaGggtacatgtccaccagcgct	8	10	11	12	3	2	1	0	1	2	0	3	2	3	2	2	2	4	2	2	2	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:333249G>A	ENST00000343164.4	-	11	1272	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P315L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	407					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAACACGTGAGGGTACATGTC	0.562																																						uc001qic.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1219-1221)cCt>cTt		Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.							118	99	105					12																	333249		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333249G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1220C>T	12.37:g.333249G>A	ENSP00000339260:p.Pro407Leu					SLC6A13_uc009zdj.2_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315L	p.P407L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1310	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		407					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1220C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487913	0.84854	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.76316	-1.01;-1.01	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93725	0.7036	10	0.87932	D	0	.	19.3766	0.94512	0.0:0.0:1.0:0.0	.	315;386;407	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	L	315;386;407	ENSP00000407104:P315L;ENSP00000339260:P407L	ENSP00000318097:P386L	P	-	2	0	SLC6A13	203510	1.000000	0.71417	0.993000	0.49108	0.456000	0.32438	9.793000	0.99091	2.596000	0.87737	0.491000	0.48974	CCT		0.562	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		A	333249	G	A	333249	3	1	200	1	0	0	0	0	1	0	0	0	14676	1000	35	3	608	3	SLC6A13	12	333249	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		333249	133518646	38	14091											
LST-3TM12	338821	broad.mit.edu	37	chr12	21201718	21201718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattaaaaaattcaaattgtCtttagttggacttgccaaat	15	15	5	6	0	2	0	1	0	1	0	2	1	2	1	1	1	1	1	1	1	6	7			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:21201718C>T	ENST00000421593.2	+	8	1067	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.S403F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S403F|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCAAATTGTCTTTAGTTGGA	0.353																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							60	61	60					12																	21201718		2055	4231	6286	SO:0001583	missense	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21201718C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1067C>T	12.37:g.21201718C>T	ENSP00000394168:p.Ser356Phe					SLCO1B3_uc010sim.2_Missense_Mutation_p.S403F|SLCO1B3_uc010sin.2_Missense_Mutation_p.S356F				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37		CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	11.63	1.697005	0.30142	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80653	-1.4;-1.4;1.0	3.45	2.53	0.30540	.	0.507054	0.21791	N	0.069073	T	0.81659	0.4869	M	0.64170	1.965	0.09310	N	1	P;P	0.39443	0.537;0.674	P;P	0.50490	0.642;0.642	T	0.72896	-0.4153	10	0.72032	D	0.01	.	6.15	0.20306	0.2155:0.5748:0.2097:0.0	.	356;403	G3V0H7;F5H094	.;.	F	403;403;356	ENSP00000370952:S403F;ENSP00000452013:S403F;ENSP00000394168:S356F	ENSP00000370952:S403F	S	+	2	0	SLCO1B7;RP11-545J16.1	21092985	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.169000	0.09911	0.742000	0.32697	0.508000	0.49915	TCT		0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		T	21201718	C	T	21201718	3	4	200	1	0	0	0	0	1	0	0	0	9066	913	32	3	1097	3	LST-3TM12	12	21201718	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	20868469	21201718	112650177	39	14092											
E2F7	144455	broad.mit.edu	37	chr12	77426878	77426878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacagctgccaggcttccaAtttctaaagagtagccacct	12	9	8	12	0	1	2	0	0	1	2	2	2	2	2	4	1	3	3	4	1	4	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:77426878A>G	ENST00000322886.7	-	9	1569	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	E2F7_ENST00000416496.2_Missense_Mutation_p.I445T	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	445					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGGCTTCCAATTTCTAAAGA	0.353																																						uc001sym.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1333-1335)aTt>aCt		Homo sapiens E2F transcription factor 7 (E2F7), mRNA.							77	82	80					12																	77426878		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77426878A>G	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1334T>C	12.37:g.77426878A>G	ENSP00000323246:p.Ile445Thr					E2F7_uc009zse.3_5'Flank	p.I445T	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			8	1570	-			445					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.1334T>C	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604242	0.46423	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.18810	2.46;2.19;2.2	5.33	5.33	0.75918	.	0.320832	0.35349	N	0.003270	T	0.24044	0.0582	M	0.65975	2.015	0.36337	D	0.859211	P	0.37781	0.608	B	0.37943	0.261	T	0.20306	-1.0279	10	0.19147	T	0.46	-10.3588	13.1719	0.59604	1.0:0.0:0.0:0.0	.	445	Q96AV8	E2F7_HUMAN	T	445	ENSP00000323246:I445T;ENSP00000393639:I445T;ENSP00000448245:I445T	ENSP00000323246:I445T	I	-	2	0	E2F7	75951009	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.098000	0.64548	2.241000	0.73720	0.533000	0.62120	ATT		0.353	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		G	77426878	A	G	77426878	3	3	200	1	0	0	0	0	1	0	0	0	4872	101	4	4	1421	4	E2F7	12	77426878	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08	56225160	77426878	56425017	40	14093											
RPH3A	22895	broad.mit.edu	37	chr12	113313505	113313505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaggaggaagcagacCgggtcctgggccagcaggac	10	2	16	13	1	0	1	0	0	0	1	1	5	1	4	5	5	2	2	5	5	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:113313505C>T	ENST00000389385.4	+	12	1402	c.905C>T	c.(904-906)cCg>cTg	p.P302L	RPH3A_ENST00000543106.2_Missense_Mutation_p.P302L|RPH3A_ENST00000551052.1_Missense_Mutation_p.P298L|RPH3A_ENST00000420983.2_Missense_Mutation_p.P302L|RPH3A_ENST00000415485.3_Missense_Mutation_p.P302L|RPH3A_ENST00000548866.1_Missense_Mutation_p.P253L|RPH3A_ENST00000447659.2_Missense_Mutation_p.P253L|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	302	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGAAGCAGACCGGGTCCTGGG	0.577																																						uc010syl.2																			0		p.G301R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(904-906)cCg>cTg		Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.							70	68	69					12																	113313505		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113313505C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.905C>T	12.37:g.113313505C>T	ENSP00000374036:p.Pro302Leu					RPH3A_uc001ttz.3_Missense_Mutation_p.P302L|RPH3A_uc001tty.3_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.2_Missense_Mutation_p.P253L|RPH3A_uc001tua.3_Missense_Mutation_p.P62L	p.P302L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	11	1267	+			302			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.905C>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	3.225	-0.158682	0.06544	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.62232	0.06;0.06;0.04;0.06;0.06;0.04;0.06	4.18	3.29	0.37713	.	0.475492	0.17515	N	0.171467	T	0.45915	0.1366	L	0.38531	1.155	0.26901	N	0.967103	B;B;B;B	0.26400	0.148;0.0;0.0;0.148	B;B;B;B	0.18871	0.023;0.001;0.001;0.023	T	0.24905	-1.0147	10	0.21014	T	0.42	.	7.9995	0.30288	0.0:0.8866:0.0:0.1134	.	253;302;302;298	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	L	302;302;253;298;302;253;302	ENSP00000440384:P302L;ENSP00000374036:P302L;ENSP00000413254:P253L;ENSP00000448297:P298L;ENSP00000405357:P302L;ENSP00000450347:P253L;ENSP00000408889:P302L	ENSP00000374036:P302L	P	+	2	0	RPH3A	111797888	0.007000	0.16637	0.186000	0.23195	0.088000	0.18126	0.884000	0.28214	0.971000	0.38288	-0.126000	0.14955	CCG		0.577	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		T	113313505	C	T	113313505	3	4	200	1	0	0	0	0	1	0	0	0	13551	652	23	2	943	2	RPH3A	12	113313505	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	35886627	113313505	20538390	41	14094											
SLC7A1	6541	broad.mit.edu	37	chr13	30110213	30110213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccaccccgagggccAccagatcaaaagtgttcagg	10	6	11	14	1	2	1	2	0	0	1	2	2	2	1	5	2	2	2	5	2	2	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:30110213A>G	ENST00000380752.5	-	3	499	c.113T>C	c.(112-114)gTg>gCg	p.V38A		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	38					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCGAGGGCCACCAGATCAAA	0.627																																						uc001uso.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(112-114)gTg>gCg		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						51	51	51					13																	30110213		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110213A>G	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.113T>C	13.37:g.30110213A>G	ENSP00000370128:p.Val38Ala						p.V38A	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	2	500	-		Lung SC(185;0.0257)|Breast(139;0.238)	38					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.113T>C	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417041	0.83449	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.89196	-2.48;-2.48	4.81	4.81	0.61882	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.67700	2.07	0.58432	D	0.999999	D	0.61697	0.99	D	0.63957	0.92	D	0.92875	0.6318	10	0.54805	T	0.06	.	13.6926	0.62556	1.0:0.0:0.0:0.0	.	38	P30825	CTR1_HUMAN	A	38	ENSP00000370128:V38A;ENSP00000390092:V38A	ENSP00000370128:V38A	V	-	2	0	SLC7A1	29008213	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.966000	0.93397	2.015000	0.59207	0.533000	0.62120	GTG		0.627	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		G	30110213	A	G	30110213	3	3	200	1	0	0	0	0	1	0	0	0	14692	159	6	4	1820	4	SLC7A1	13	30110213	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08		30110213	85059665	42	14095											
SPERT	220082	broad.mit.edu	37	chr13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagaaggaccacgtcGccctgcaggtgccccgtggc	7	6	15	13	3	0	2	0	1	0	1	1	3	0	3	4	4	2	1	4	4	2	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:46287863G>A	ENST00000310521.1	+	3	783	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SPERT_ENST00000378966.3_Missense_Mutation_p.A199T	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	235						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677																																						uc001van.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(703-705)Gcc>Acc		Homo sapiens spermatid associated (SPERT), mRNA.							36	32	34					13																	46287863		2202	4299	6501	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287863G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.703G>A	13.37:g.46287863G>A	ENSP00000309189:p.Ala235Thr					SPERT_uc001vao.2_Missense_Mutation_p.A199T	p.A235T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	783	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	235					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.703G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274248	0.10403	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.50813	0.84;0.73	5.16	0.248	0.15526	.	1.005240	0.08006	N	0.989534	T	0.25419	0.0618	N	0.12746	0.255	0.09310	N	1	B;B	0.23316	0.047;0.083	B;B	0.20577	0.03;0.03	T	0.23154	-1.0196	10	0.21540	T	0.41	.	5.2559	0.15546	0.3491:0.1444:0.5065:0.0	.	199;235	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	T	235;199	ENSP00000309189:A235T;ENSP00000368249:A199T	ENSP00000309189:A235T	A	+	1	0	SPERT	45185864	0.005000	0.15991	0.000000	0.03702	0.123000	0.20343	1.442000	0.35046	0.342000	0.23796	0.655000	0.94253	GCC		0.677	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		A	46287863	G	A	46287863	3	1	200	1	0	0	0	0	1	0	0	0	15038	1087	38	1	713	1	SPERT	13	46287863	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	16177650	46287863	68882015	43	14096											
C15orf2	23742	broad.mit.edu	37	chr15	24921157	24921157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccccgcgccctttccGcggcctgttccgccggaacg	4	6	10	21	7	0	0	0	0	0	0	2	1	2	1	8	2	1	1	8	2	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:24921157G>A	ENST00000329468.2	+	1	617	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	48					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGCCCTTTCCGCGGCCTGTTC	0.761																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(142-144)cGc>cAc		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							12	15	14					15																	24921157		2141	4175	6316	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921157G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.143G>A	15.37:g.24921157G>A	ENSP00000333735:p.Arg48His						p.R48H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	617	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	48						Missense_Mutation	SNP	ENST00000329468.2	37	c.143G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.450	0.852953	0.17106	.	.	ENSG00000185823	ENST00000329468	T	0.09445	2.98	2.3	-1.83	0.07833	.	.	.	.	.	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.45425	-0.9262	9	0.12766	T	0.61	.	2.9734	0.05929	0.4028:0.2506:0.3466:0.0	.	48	Q9NZP6	CO002_HUMAN	H	48	ENSP00000333735:R48H	ENSP00000333735:R48H	R	+	2	0	C15orf2	22472250	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.875000	0.04205	-0.434000	0.07275	-0.350000	0.07774	CGC		0.761	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921157	G	A	24921157	3	1	200	1	0	0	0	0	1	0	0	0	1784	1087	38	1	145	1	C15orf2	15	24921157	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		24921157	77610235	44	14097											
SPPL2A	84888	broad.mit.edu	37	chr15	51031880	51031880	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatgacttcttacccaAccatttgtagaagaaataaa	19	11	4	7	0	1	3	0	1	1	2	1	3	1	3	2	0	2	1	2	0	10	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:51031880A>G	ENST00000261854.5	-	6	1004	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	244					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTCTTACCCAACCATTTGTAG	0.308																																					Melanoma(50;790 1209 4069 22965 33125)	uc001zyv.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(730-732)Ttg>Ctg		Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.							128	123	125					15																	51031880		2196	4292	6488	SO:0001819	synonymous_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51031880A>G		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.730T>C	15.37:g.51031880A>G							p.L244L	NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	5	910	-			244					B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	c.730T>C	CCDS10138.1																																																																																				0.308	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		G	51031880	A	G	51031880	2	3	200	1	0	0	0	0	0	0	0	1	15087	40	2	4		4	SPPL2A	15	51031880	Silent	SNP	A	TCGA-28-1753-01A-01D-1494-08	26110723	51031880	51499512	45	14098											
LARP6	55323	broad.mit.edu	37	chr15	71128745	71128745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcagaaaagtagaattcGatctgatccaccagtttctt	13	13	6	9	1	4	3	2	1	2	2	6	4	5	3	2	0	0	2	2	0	4	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:71128745G>A	ENST00000299213.8	-	2	370	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	100	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGAATTCGATCTGATCCA	0.502																																						uc002ass.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(298-300)atC>atT		Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.							122	121	122					15																	71128745		2199	4297	6496	SO:0001819	synonymous_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71128745G>A	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.300C>T	15.37:g.71128745G>A							p.I100I	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			1	371	-			100			HTH La-type RNA-binding.		Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	c.300C>T	CCDS32281.1																																																																																				0.502	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		A	71128745	G	A	71128745	2	1	200	1	0	0	0	0	0	0	0	1	8632	1048	37	2		2	LARP6	15	71128745	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08	20096865	71128745	31402647	46	14099											
MSLNL	401827	broad.mit.edu	37	chr16	820272	820272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccagcagcgcagtcaCgttgccaacatccaggctct	8	7	11	15	2	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	1	1	rs548772489		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:820272C>T	ENST00000442466.1	-	14	1659	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	MSLNL_ENST00000293892.3_Missense_Mutation_p.V905M|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	554					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCGCAGTCACGTTGCCAACA	0.692													.|||	1	0.000199681	0	0	5008	,	,		9924	0		0	False		,,,				2504	0.001					uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2713-2715)Gtg>Atg		Homo sapiens mesothelin-like (MSLNL), mRNA.							14	13	13					16																	820272		2171	4258	6429	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:820272C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1660G>A	16.37:g.820272C>T	ENSP00000415767:p.Val554Met					MIR662_uc021tac.1_Non-coding_Transcript	p.V905M	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			14	2713	-			554						Missense_Mutation	SNP	ENST00000442466.1	37	c.2713G>A		.	.	.	.	.	.	.	.	.	.	c	15.53	2.862191	0.51482	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.18338	2.22;2.22;2.22	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.18964	0.0455	.	.	.	0.31162	N	0.704282	P	0.44521	0.837	B	0.42593	0.392	T	0.08700	-1.0709	9	0.62326	D	0.03	-39.0589	13.31	0.60374	0.0:1.0:0.0:0.0	.	554	Q96KJ4	MSLNL_HUMAN	M	604;554;905	ENSP00000441381:V604M;ENSP00000415767:V554M;ENSP00000293892:V905M	ENSP00000293892:V905M	V	-	1	0	MSLNL	760273	0.980000	0.34600	0.629000	0.29254	0.005000	0.04900	2.243000	0.43115	2.608000	0.88229	0.543000	0.68304	GTG		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		T	820272	C	T	820272	3	4	200	1	0	0	0	0	1	0	0	0	9882	536	19	1	456	1	MSLNL	16	820272	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		820272	89534481	47	14100											
OSGIN1	29948	broad.mit.edu	37	chr16	83994249	83994249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctttgatgcccttctaCgcccagacacagactttggg	7	12	9	13	1	2	3	0	1	2	2	2	3	2	3	2	1	3	1	2	1	1	4	rs62640906	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:83994249C>T	ENST00000343939.2	+	5	912	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	OSGIN1_ENST00000565123.1_Missense_Mutation_p.R94C|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R94C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R94C			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	177					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCCCTTCTACGCCCAGACAC	0.632																																						uc002fha.3																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(529-531)Cgc>Tgc		Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.							62	59	60					16																	83994249		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994249C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.529C>T	16.37:g.83994249C>T	ENSP00000343376:p.Arg177Cys					OSGIN1_uc002fhb.3_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.3_Missense_Mutation_p.R94C	p.R177C	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN			4	529	+			177					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.529C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.042544	0.75732	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.28069	2.58;1.63;1.63	4.85	4.85	0.62838	.	0.066452	0.64402	D	0.000012	T	0.46210	0.1381	L	0.54965	1.715	0.53688	D	0.99997	D	0.89917	1.0	P	0.62184	0.899	T	0.45440	-0.9261	10	0.87932	D	0	.	12.1017	0.53788	0.1717:0.8283:0.0:0.0	.	177	Q9UJX0	OSGI1_HUMAN	C	177;94;94	ENSP00000343376:R177C;ENSP00000355374:R94C;ENSP00000376983:R94C	ENSP00000343376:R177C	R	+	1	0	OSGIN1	82551750	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.767000	0.62286	2.228000	0.72767	0.491000	0.48974	CGC		0.632	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		T	83994249	C	T	83994249	3	4	200	1	0	0	0	0	1	0	0	0	11289	536	19	1	547	1	OSGIN1	16	83994249	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	83173977	83994249	6360504	48	14101											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577120	C	T	7577120	3	4	200	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		7577120	73618090	49	14102											
SGK494	9703	broad.mit.edu	37	chr17	26939067	26939067	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacttaactctaccttcaCatctcgatgcatgatgccca	11	11	5	14	1	3	1	1	1	2	0	4	2	3	1	2	0	5	2	2	0	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:26939067C>T	ENST00000528896.2	-	0	7407				RP11-192H23.6_ENST00000579019.2_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.V230M|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.M171I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTACCTTCACATCTCGATGC	0.443																																						uc010crq.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(688-690)Gtg>Atg		Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.							125	120	122					17																	26939067		2203	4300	6503	SO:0001628	intergenic_variant	124923				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26939067C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939067C>T						SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Missense_Mutation_p.V230M	p.V230M	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN			6	720	-	Lung NSC(42;0.00431)		1019					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.688G>A	CCDS32595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.49|16.49	3.138350|3.138350	0.56936|0.56936	.|.	.|.	ENSG00000167524|ENSG00000167524	ENST00000481916;ENST00000534850|ENST00000301037	.|T	.|0.08984	.|3.03	5.97|5.97	4.95|4.95	0.65309|0.65309	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.20373|0.20373	0.0490|0.0490	L|L	0.41492|0.41492	1.28|1.28	0.46823|0.46823	D|D	0.99921|0.99921	.|D	.|0.55605	.|0.972	.|P	.|0.62089	.|0.898	T|T	0.00131|0.00131	-1.2013|-1.2013	6|10	0.87932|0.87932	D;D|D	0;0|0	-11.3847|-11.3847	17.9992|17.9992	0.89194|0.89194	0.0:0.8694:0.1306:0.0|0.0:0.8694:0.1306:0.0	.|.	.|230	.|Q96LW2	.|SG494_HUMAN	I|M	171|230	.|ENSP00000301037:V230M	ENSP00000436369:M171I;ENSP00000436369:M171I|ENSP00000301037:V230M	M|V	-|-	3|1	0|0	AC005726.6|AC005726.6	23963194|23963194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.028000|3.028000	0.49705|0.49705	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	ATG|GTG		0.443	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		T	26939067	C	T	26939067	1	4	200	0	1	0	0	0	0	0	0	0	14213	478	17	3		3	SGK494	17	26939067	IGR	SNP	C	TCGA-28-1753-01A-01D-1494-08	19361947	26939067	54256143	50	14103											
KIF2B	84643	broad.mit.edu	37	chr17	51901460	51901460	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcaaagtctatgggacaTtttttgagatttatgggggc	10	14	11	6	0	2	1	1	1	1	1	2	3	2	2	1	3	0	0	1	3	3	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:51901460T>A	ENST00000268919.4	+	1	1222	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	356	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATGGGACATTTTTTGAGAT	0.453																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1066-1068)Ttt>Att		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							98	103	102					17																	51901460		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901460T>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1066T>A	17.37:g.51901460T>A	ENSP00000268919:p.Phe356Ile					KIF2B_uc010wna.1_Non-coding_Transcript	p.F356I	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	1222	+			356			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1066T>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350886	0.82132	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75938	-0.98	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.56097	D	0.000037	D	0.85818	0.5785	M	0.89353	3.025	0.46336	D	0.998993	D	0.65815	0.995	P	0.58391	0.838	D	0.88566	0.3126	10	0.87932	D	0	.	13.5087	0.61499	0.0:0.0:0.0:1.0	.	356	Q8N4N8	KIF2B_HUMAN	I	356;244	ENSP00000268919:F356I	ENSP00000268919:F356I	F	+	1	0	KIF2B	49256459	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.142000	0.64820	2.258000	0.74832	0.533000	0.62120	TTT		0.453	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		A	51901460	T	A	51901460	3	1	200	1	0	0	0	0	1	0	0	0	8298	1493	52	5	1068	5	KIF2B	17	51901460	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08	24962393	51901460	29293750	51	14104											
USH1G	124590	broad.mit.edu	37	chr17	72916669	72916669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaccagatgttggctcCgaaggacaccaggaaggaca	13	5	13	10	1	0	1	0	0	0	1	1	5	1	4	3	5	0	3	3	5	3	2	rs368407264		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:72916669C>T	ENST00000319642.1	-	2	444	c.262G>A	c.(262-264)Gga>Aga	p.G88R		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	88					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTTGGCTCCGAAGGACACC	0.602																																						uc002jme.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(262-264)Gga>Aga		Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	114	95	101		262	3.8	1	17		101	0,8600		0,0,4300	no	missense	USH1G	NM_173477.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	88/462	72916669	1,13005	2203	4300	6503	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916669C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.262G>A	17.37:g.72916669C>T	ENSP00000320076:p.Gly88Arg					USH1G_uc010wro.1_5'UTR	p.G88R	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			1	445	-	all_lung(278;0.172)|Lung NSC(278;0.207)		88					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.262G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678081	0.47886	2.27E-4	0.0	ENSG00000182040	ENST00000319642	T	0.53857	0.6	3.8	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81077	-0.1096	10	0.72032	D	0.01	-30.197	16.2003	0.82067	0.0:1.0:0.0:0.0	.	88	Q495M9	USH1G_HUMAN	R	88	ENSP00000320076:G88R	ENSP00000320076:G88R	G	-	1	0	USH1G	70428264	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.559000	0.82265	2.118000	0.64928	0.313000	0.20887	GGA		0.602	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		T	72916669	C	T	72916669	3	4	200	1	0	0	0	0	1	0	0	0	17032	661	23	2	1131	2	USH1G	17	72916669	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	21015209	72916669	8278541	52	14105											
DNAH17	8632	broad.mit.edu	37	chr17	76502887	76502887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggaaagccagtcttttcGtctctaaatactctgccaaa	11	11	9	10	1	3	0	0	0	3	0	5	1	3	1	2	2	3	0	2	2	5	4	rs555541435		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:76502887G>A	ENST00000585328.1	-	30	4833	c.4709C>T	c.(4708-4710)aCg>aTg	p.T1570M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T1569M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1569	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1570M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTCTTTTCGTCTCTAAATA	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		18410	0		0	False		,,,				2504	0					uc010dhp.2																			1	Substitution - Missense(1)	p.T1570M(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4717-4719)aCg>aTg		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							85	90	89					17																	76502887		1911	4111	6022	SO:0001583	missense	8632							g.chr17:76502887G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4709C>T	17.37:g.76502887G>A	ENSP00000465516:p.Thr1570Met						p.T1573M	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		29	4843	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4718C>T		.	.	.	.	.	.	.	.	.	.	G	17.73	3.460721	0.63513	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.62788	0.0	4.99	4.99	0.66335	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.82609	0.5074	M	0.91459	3.21	0.53005	D	0.999964	D	0.65815	0.995	D	0.63381	0.914	D	0.87338	0.2329	9	0.87932	D	0	.	18.259	0.90028	0.0:0.0:1.0:0.0	.	1569	Q9UFH2	DYH17_HUMAN	M	1570;1569	ENSP00000374490:T1569M	ENSP00000300671:T1570M	T	-	2	0	DNAH17	74014482	1.000000	0.71417	0.945000	0.38365	0.046000	0.14306	9.259000	0.95561	2.279000	0.76181	0.655000	0.94253	ACG		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76502887	G	A	76502887	3	1	200	1	0	0	0	0	1	0	0	0	4601	1145	40	1	8878	1	DNAH17	17	76502887	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	3586218	76502887	4692323	53	14106											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655177	38655177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctccagcaacgcatccaGcagccacagcgacgaccgct	10	4	8	19	4	1	0	0	0	1	0	3	2	2	0	5	0	5	4	5	0	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:38655177G>T	ENST00000222345.6	+	15	4348	c.3839G>T	c.(3838-3840)aGc>aTc	p.S1280I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1280					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACGCATCCAGCAGCCACAGC	0.607																																						uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3838-3840)aGc>aTc		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.							83	78	80					19																	38655177		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655177G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3839G>T	19.37:g.38655177G>T	ENSP00000222345:p.Ser1280Ile						p.S1280I	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		14	4348	+			1280					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3839G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782303	0.90282	.	.	ENSG00000105738	ENST00000222345	T	0.56611	0.45	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.67397	2.05	0.58432	D	0.999997	D	0.89917	1.0	D	0.72075	0.976	T	0.74990	-0.3475	10	0.87932	D	0	-27.3642	16.0588	0.80822	0.0:0.0:1.0:0.0	.	1280	O60292	SI1L3_HUMAN	I	1280	ENSP00000222345:S1280I	ENSP00000222345:S1280I	S	+	2	0	SIPA1L3	43347017	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.415000	0.97375	2.055000	0.61198	0.650000	0.86243	AGC		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38655177	G	T	38655177	3	4	200	1	0	0	0	0	1	0	0	0	14331	971	34	5	3889	5	SIPA1L3	19	38655177	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		38655177	20473806	54	14107											
LILRB2	10288	broad.mit.edu	37	chr19	54780739	54780739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagcagtaggacgaCggccaccaagatgccgatca	13	3	15	10	3	1	1	1	0	0	1	1	7	1	4	3	4	2	2	3	4	2	1	rs200943350	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54780739C>T	ENST00000391749.4	-	10	1676	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB2_ENST00000391746.1_Missense_Mutation_p.V469I|LILRB2_ENST00000314446.5_Missense_Mutation_p.V468I|LILRB2_ENST00000391748.1_Missense_Mutation_p.V468I|LILRB2_ENST00000434421.1_Missense_Mutation_p.V353I|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	469					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		agtaggaCGACGGCCACCAAG	0.577													.|||	2	0.000399361	0	0.0014	5008	,	,		17302	0.001		0	False		,,,				2504	0					uc002qfb.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1405-1407)Gtc>Atc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.							231	161	185					19																	54780739		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780739C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1405G>A	19.37:g.54780739C>T	ENSP00000375629:p.Val469Ile					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.V469I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.V468I|LILRB2_uc010yet.2_Missense_Mutation_p.V353I	p.V469I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1671	-	Ovarian(34;0.19)		469					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1405G>A	CCDS12886.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.146	-0.175184	0.06421	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00502	7.05;7.05;7.0;7.05;6.95	1.5	-1.24	0.09435	.	1.922890	0.03993	U	0.295112	T	0.00210	0.0006	N	0.03930	-0.32	0.09310	N	1	P;B;B	0.37352	0.591;0.313;0.396	B;B;B	0.25140	0.058;0.058;0.041	T	0.33214	-0.9877	10	0.30078	T	0.28	.	2.3973	0.04393	0.4488:0.2803:0.0:0.2709	.	469;485;469	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	I	468;468;469;469;353	ENSP00000375628:V468I;ENSP00000319960:V468I;ENSP00000375629:V469I;ENSP00000375626:V469I;ENSP00000410117:V353I	ENSP00000319960:V468I	V	-	1	0	LILRB2	59472551	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.433000	0.06948	-0.410000	0.07542	-1.499000	0.00960	GTC		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54780739	C	T	54780739	3	4	200	1	0	0	0	0	1	0	0	0	8791	536	19	1	411	1	LILRB2	19	54780739	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	16125562	54780739	4348244	55	14108											
LILRB1	10859	broad.mit.edu	37	chr19	55146136	55146136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggcatcttggtggccGtcatcctactgctcctcctc	4	13	9	15	2	2	1	1	1	1	0	7	1	5	1	4	3	2	2	4	3	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:55146136G>A	ENST00000396331.1	+	11	1762	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB1_ENST00000418536.2_Missense_Mutation_p.V453I|LILRB1_ENST00000434867.2_Missense_Mutation_p.V469I|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.V469I|LILRB1_ENST00000324602.7_Missense_Mutation_p.V470I|LILRB1_ENST00000448689.1_Missense_Mutation_p.V469I|LILRB1_ENST00000396317.1_Missense_Mutation_p.V453I|LILRB1_ENST00000396315.1_Missense_Mutation_p.V470I|LILRB1_ENST00000396327.3_Missense_Mutation_p.V470I|LILRB1_ENST00000396332.4_Missense_Mutation_p.V469I|LILRB1_ENST00000427581.2_Missense_Mutation_p.V519I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	469					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTGGTGGCCGTCAtcctact	0.577										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1405-1407)Gtc>Atc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							161	128	139					19																	55146136		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146136G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1405G>A	19.37:g.55146136G>A	ENSP00000379622:p.Val469Ile	HNSCC(37;0.09)				LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgl.3_Missense_Mutation_p.V469I|LILRB1_uc002qgk.3_Missense_Mutation_p.V470I|LILRB1_uc002qgm.3_Missense_Mutation_p.V470I|LILRB1_uc010erq.3_Missense_Mutation_p.V453I|LILRB1_uc010err.3_Non-coding_Transcript	p.V469I	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	10	1745	+			469					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1405G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	5.665	0.307299	0.10733	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00488	7.16;7.14;7.04;7.16;7.1;7.1;7.16;7.16;7.13;7.14;7.1	1.81	-0.544	0.11847	.	27.716100	0.01102	U	0.005381	T	0.00241	0.0007	N	0.05330	-0.07	0.09310	N	1	B;B;B;B;B;B	0.34200	0.019;0.327;0.441;0.029;0.25;0.313	B;B;B;B;B;B	0.31101	0.007;0.048;0.124;0.007;0.03;0.085	T	0.34502	-0.9826	10	0.41790	T	0.15	.	2.652	0.05002	0.2615:0.0:0.2723:0.4662	.	453;469;470;469;470;469	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	I	469;453;469;469;470;470;469;469;519;453;470	ENSP00000379614:V469I;ENSP00000391514:V453I;ENSP00000409968:V469I;ENSP00000379622:V469I;ENSP00000379618:V470I;ENSP00000315997:V470I;ENSP00000405243:V469I;ENSP00000379623:V469I;ENSP00000395004:V519I;ENSP00000379610:V453I;ENSP00000379608:V470I	ENSP00000315997:V470I	V	+	1	0	LILRB1	59837948	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.303000	0.02743	-0.231000	0.09825	-1.262000	0.01453	GTC		0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55146136	G	A	55146136	3	1	200	1	0	0	0	0	1	0	0	0	8790	1145	40	1	1442	1	LILRB1	19	55146136	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	365397	55146136	3982847	56	14109											
TPTE	7179	broad.mit.edu	37	chr21	10951337	10951337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagagaaatagaacgataCtccaaaggaatataaagttt	19	9	8	5	1	0	2	0	0	0	2	1	5	1	3	1	1	2	2	1	1	10	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:10951337C>T	ENST00000361285.4	-	10	704	c.375G>A	c.(373-375)gaG>gaA	p.E125E	TPTE_ENST00000342420.5_Silent_p.E87E|TPTE_ENST00000298232.7_Silent_p.E107E|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	125					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGAACGATACTCCAAAGGAA	0.328																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(373-375)gaG>gaA		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							101	108	106					21																	10951337		2203	4297	6500	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951337C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.375G>A	21.37:g.10951337C>T						TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.E107E|TPTE_uc002yir.1_Silent_p.E87E|TPTE_uc010gkv.1_5'UTR	p.E125E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	743	-			125					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.375G>A	CCDS13560.2																																																																																				0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10951337	C	T	10951337	2	4	200	1	0	0	0	0	0	0	0	1	16427	564	20	3		3	TPTE	21	10951337	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08		10951337	37178558	57	14110											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986020	31986020	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcctcaataatagtaGccagagccagagccgcatcc	12	7	9	13	1	1	2	1	0	0	2	3	2	3	2	5	1	3	3	5	1	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:31986020G>T	ENST00000329122.2	-	1	229	c.204C>A	c.(202-204)ggC>ggA	p.G68G	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	68						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						AATAATAGTAGCCAGAGCCAG	0.537																																						uc002yop.3																			0				breast(2)|endometrium(1)|lung(7)	10						c.(202-204)ggC>ggA		Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.							77	82	80					21																	31986020		2203	4300	6503	SO:0001819	synonymous_variant	337966					cytosol|intermediate filament		g.chr21:31986020G>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.204C>A	21.37:g.31986020G>T						KRTAP20-1_uc011ade.2_5'Flank	p.G68G	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			0	204	-			68						Silent	SNP	ENST00000329122.2	37	c.204C>A	CCDS13602.1																																																																																				0.537	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		T	31986020	G	T	31986020	2	4	200	1	0	0	0	0	0	0	0	1	8569	958	34	5		5	KRTAP6-1	21	31986020	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08	21034683	31986020	16143875	58	14111											
ITSN1	6453	broad.mit.edu	37	chr21	35254584	35254584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaccaattgcttggggcCgcgcaaatttctgcacagtg	9	10	12	10	2	1	1	0	1	1	0	1	1	1	1	2	2	2	3	2	2	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:35254584C>T	ENST00000381318.3	+	35	4667	c.4379C>T	c.(4378-4380)cCg>cTg	p.P1460L	ITSN1_ENST00000399367.3_Missense_Mutation_p.P1455L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.P1399L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1460L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1460					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCTTGGGGCCGCGCAAATTT	0.473																																						uc002yta.1																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4378-4380)cCg>cTg		Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.							67	66	66					21																	35254584		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35254584C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4379C>T	21.37:g.35254584C>T	ENSP00000370719:p.Pro1460Leu					DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	p.P1460L	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			34	4647	+			1460					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4379C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870958	0.91587	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.8	5.8	0.92144	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.75199	-0.3402	10	0.87932	D	0	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	1399;1455;1460	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	L	1460;1460;1389;1455;1399	ENSP00000370719:P1460L;ENSP00000370685:P1460L;ENSP00000382301:P1455L;ENSP00000387377:P1399L	ENSP00000370685:P1460L	P	+	2	0	ITSN1	34176454	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.458000	0.80787	2.748000	0.94277	0.655000	0.94253	CCG		0.473	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		T	35254584	C	T	35254584	3	4	200	1	0	0	0	0	1	0	0	0	7926	652	23	2	4519	2	ITSN1	21	35254584	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	3268564	35254584	12875311	59	14112											
DIP2A	23181	broad.mit.edu	37	chr21	47957153	47957153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgaaacattaacaaaCgtgctggatttcaaaaggga	16	8	10	7	1	1	1	1	1	0	0	1	3	1	3	0	2	5	3	0	2	5	2	rs372959959		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:47957153C>T	ENST00000417564.2	+	14	1680	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	DIP2A_ENST00000427143.2_Silent_p.N489N|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000466639.1_Silent_p.N510N|DIP2A_ENST00000457905.3_Silent_p.N553N|DIP2A_ENST00000318711.7_Silent_p.N554N|DIP2A_ENST00000435722.3_Silent_p.N553N|DIP2A_ENST00000400274.1_Silent_p.N549N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	553					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CATTAACAAACGTGCTGGATT	0.443																																						uc002zjo.2																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1657-1659)aaC>aaT		Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.		T	,,,,,,	3,4197		0,3,2097	287	292	290		1467,1530,1647,1659,1659,1659,1659	0	1	21		290	0,8464		0,0,4232	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	,,,,,,	0,3,6329	TT,TC,CC		0.0,0.0714,0.0237	,,,,,,	489/1111,510/799,549/1568,553/1572,553/890,553/842,553/813	47957153	3,12661	2100	4232	6332	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47957153C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1659C>T	21.37:g.47957153C>T						DIP2A_uc011afy.1_Silent_p.N489N|DIP2A_uc011afz.1_Silent_p.N549N|DIP2A_uc002zjl.3_Silent_p.N553N|DIP2A_uc002zjm.3_Silent_p.N553N|DIP2A_uc010gql.3_Silent_p.N510N|DIP2A_uc002zjn.3_Silent_p.N553N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.3_5'Flank	p.N553N	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	13	1842	+	Breast(49;0.0933)		553					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.1659C>T	CCDS46655.1																																																																																				0.443	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47957153	C	T	47957153	2	4	200	1	0	0	0	0	0	0	0	1	4527	535	19	1		1	DIP2A	21	47957153	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	12702569	47957153	172742	60	14113											
SUSD2	56241	broad.mit.edu	37	chr22	24582099	24582099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacctgagggtgcaggcGcgggcccagcccgggacgat	7	3	17	14	5	0	1	0	1	0	0	0	4	0	2	4	4	2	1	4	4	0	0	rs539884627		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr22:24582099G>A	ENST00000358321.3	+	9	1716	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	485	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGGTGCAGGCGCGGGCCCAGC	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		18650	0		0	False		,,,				2504	0					uc002zzn.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1453-1455)gcG>gcA		Homo sapiens sushi domain containing 2 (SUSD2), mRNA.							19	21	20					22																	24582099		2199	4299	6498	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582099G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1455G>A	22.37:g.24582099G>A							p.A485A	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			8	1499	+			485			VWFD.		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.1455G>A	CCDS13824.1																																																																																				0.647	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		A	24582099	G	A	24582099	2	1	200	1	0	0	0	0	0	0	0	1	15405	1074	38	1		1	SUSD2	22	24582099	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		24582099	26722467	61	14114											
CYBB	1536	broad.mit.edu	37	chrX	37668843	37668843	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcactttgctgtgcaccaTgatgaggagaaagatgtgat	13	11	11	6	0	1	5	1	3	0	2	1	6	1	5	1	1	2	2	1	1	2	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:37668843T>C	ENST00000378588.4	+	12	1552	c.1485T>C	c.(1483-1485)caT>caC	p.H495H	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.H228H|CYBB_ENST00000545017.1_Silent_p.H463H	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	495					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTGTGCACCATGATGAGGAGA	0.398																																						uc004ddr.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(1483-1485)caT>caC		Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.							97	73	81					X																	37668843		2202	4298	6500	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37668843T>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1485T>C	X.37:g.37668843T>C						CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	p.H495H	NM_000397	NP_000388	P04839	CY24B_HUMAN			11	1546	+			495					A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1485T>C	CCDS14242.1																																																																																				0.398	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			C	37668843	T	C	37668843	2	2	200	1	0	0	0	0	0	0	0	1	4133	1461	51	4		4	CYBB	23	37668843	Silent	SNP	T	TCGA-28-1753-01A-01D-1494-08		37668843	117601717	62	14115											
GDPD2	54857	broad.mit.edu	37	chrX	69652284	69652284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgctgcagcagatgCgttaccctatctggcttatt	7	12	10	12	1	1	1	0	0	1	1	1	1	1	1	2	1	6	6	2	1	3	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:69652284C>T	ENST00000374382.3	+	13	1686	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.R530C|GDPD2_ENST00000538649.1_Missense_Mutation_p.R400C|GDPD2_ENST00000536730.1_Missense_Mutation_p.R400C	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	479	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.R479C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCAGCAGATGCGTTACCCTAT	0.522																																						uc011mpk.2																			1	Substitution - Missense(1)	p.R479C(1)|p.L530L(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1588-1590)Cgt>Tgt		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.							173	134	147					X																	69652284		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652284C>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1435C>T	X.37:g.69652284C>T	ENSP00000363503:p.Arg479Cys					GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.R479C|GDPD2_uc011mpl.2_Missense_Mutation_p.R400C|GDPD2_uc011mpm.2_Missense_Mutation_p.R400C	p.R530C	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN			13	1949	+	Renal(35;0.156)		479					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1588C>T	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935077	0.34189	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.77	2.89	0.33648	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	1.406040	0.04115	N	0.315241	T	0.39655	0.1086	L	0.36672	1.1	0.26718	N	0.970831	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.232	T	0.33599	-0.9862	9	.	.	.	4.4141	8.4157	0.32670	0.297:0.5602:0.1429:0.0	.	530;479	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	C	530;400;400;479	ENSP00000414019:R530C;ENSP00000445982:R400C;ENSP00000444601:R400C;ENSP00000363503:R479C	.	R	+	1	0	GDPD2	69569009	0.000000	0.05858	0.784000	0.31847	0.978000	0.69477	-0.590000	0.05760	1.009000	0.39289	0.468000	0.43344	CGT		0.522	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		T	69652284	C	T	69652284	3	4	200	1	0	0	0	0	1	0	0	0	6324	768	27	1	1638	1	GDPD2	23	69652284	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	31983441	69652284	85618276	63	14116											
NXF3	56000	broad.mit.edu	37	chrX	102337213	102337213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtatccgagaaggtcGtgcacactgggcttctgtcc	7	10	14	10	2	1	1	0	0	1	1	4	3	3	2	2	4	1	3	2	4	2	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:102337213G>A	ENST00000395065.3	-	9	961	c.860C>T	c.(859-861)aCg>aTg	p.T287M	NXF3_ENST00000425644.1_De_novo_Start_OutOfFrame|NXF3_ENST00000425463.2_Missense_Mutation_p.T198M	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	287					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CGAGAAGGTCGTGCACACTGG	0.542																																						uc004eju.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(859-861)aCg>aTg		Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.							434	292	340					X																	102337213		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337213G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.860C>T	X.37:g.102337213G>A	ENSP00000378504:p.Thr287Met					NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	p.T287M	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			8	931	-			287					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.860C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936077	0.34189	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.47177	0.87;0.85	3.4	1.51	0.23008	.	0.227376	0.42964	D	0.000625	T	0.54679	0.1873	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.79784	0.993;0.977;0.786	T	0.39781	-0.9597	10	0.54805	T	0.06	-7.6577	5.3239	0.15895	0.0:0.2227:0.5446:0.2327	.	287;183;287	B4DYI1;E9PEY7;Q9H4D5	.;.;NXF3_HUMAN	M	287;198	ENSP00000378504:T287M;ENSP00000404347:T198M	ENSP00000378504:T287M	T	-	2	0	NXF3	102223869	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.557000	0.23454	0.260000	0.21731	0.600000	0.82982	ACG		0.542	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		A	102337213	G	A	102337213	3	1	200	1	0	0	0	0	1	0	0	0	10785	1145	40	1	779	1	NXF3	23	102337213	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	32684929	102337213	52933347	64	14117											
IRS4	8471	broad.mit.edu	37	chrX	107978476	107978476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgagccagcctcccggctCgagcggcaccaagcccaggt	7	5	12	17	3	1	1	0	1	1	0	3	2	2	1	5	3	4	2	5	3	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:107978476C>G	ENST00000372129.2	-	1	1175	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	367					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTCCCGGCTCGAGCGGCACC	0.632																																						uc004eoc.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1099-1101)Gag>Cag		Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.							81	86	84					X																	107978476		2203	4299	6502	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978476C>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1099G>C	X.37:g.107978476C>G	ENSP00000361202:p.Glu367Gln						p.E367Q	NM_003604	NP_003595	O14654	IRS4_HUMAN			0	1132	-			367						Missense_Mutation	SNP	ENST00000372129.2	37	c.1099G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.929048	0.18131	.	.	ENSG00000133124	ENST00000372129	T	0.35048	1.33	4.73	2.73	0.32206	.	0.345297	0.32134	N	0.006521	T	0.21307	0.0513	L	0.32530	0.975	0.28245	N	0.925524	B	0.15930	0.015	B	0.12156	0.007	T	0.18967	-1.0320	10	0.66056	D	0.02	-5.1202	0.3362	0.00326	0.2346:0.3022:0.232:0.2312	.	367	O14654	IRS4_HUMAN	Q	367	ENSP00000361202:E367Q	ENSP00000361202:E367Q	E	-	1	0	IRS4	107865132	0.995000	0.38212	0.001000	0.08648	0.538000	0.34931	2.187000	0.42602	0.959000	0.37980	0.600000	0.82982	GAG		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		G	107978476	C	G	107978476	3	3	200	1	0	0	0	0	1	0	0	0	7842	893	31	5	2678	5	IRS4	23	107978476	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	5641263	107978476	47292084	65	14118											
CTSS	1520	broad.mit.edu	37	chr1	150727568	150727568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacttatatgtgatatttCtctgccactggctgggaact	8	16	9	8	0	1	2	0	2	1	0	2	3	1	3	1	2	2	1	1	2	4	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr1:150727568C>T	ENST00000368985.3	-	4	568	c.308G>A	c.(307-309)aGa>aAa	p.R103K	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	103					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGATATTTCTCTGCCACTG	0.408																																						uc001evn.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(307-309)aGa>aAa		Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.							195	188	190					1																	150727568		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727568C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.308G>A	1.37:g.150727568C>T	ENSP00000357981:p.Arg103Lys					CTSS_uc010pcj.2_Intron	p.R103K	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	569	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		103					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.308G>A	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442675	0.25987	.	.	ENSG00000163131	ENST00000368985	T	0.21361	2.01	5.47	4.42	0.53409	.	0.152464	0.56097	D	0.000023	T	0.06142	0.0159	L	0.43598	1.365	0.28166	N	0.928776	B	0.12630	0.006	B	0.18561	0.022	T	0.33752	-0.9856	10	0.15952	T	0.53	.	9.9177	0.41446	0.0:0.876:0.0:0.124	.	103	P25774	CATS_HUMAN	K	103	ENSP00000357981:R103K	ENSP00000357981:R103K	R	-	2	0	CTSS	148994192	0.008000	0.16893	0.075000	0.20258	0.837000	0.47467	1.471000	0.35365	1.078000	0.41014	0.591000	0.81541	AGA		0.408	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		T	150727568	C	T	150727568	3	4	201	1	0	0	0	0	1	0	0	0	4041	913	32	3	707	3	CTSS	1	150727568	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		150727568	98523053	1	14119											
ROBLD3	28956	broad.mit.edu	37	chr1	156025122	156025122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgacgcccgggtcaccgCtgccatagccagtaacatct	9	7	9	16	3	2	1	1	1	1	0	2	1	2	1	4	1	3	2	4	1	2	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr1:156025122C>T	ENST00000368305.4	+	2	275	c.137C>T	c.(136-138)gCt>gTt	p.A46V	UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A46V|UBQLN4_ENST00000472638.1_5'Flank|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A46V	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	46					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CGGGTCACCGCTGCCATAGCC	0.572																																						uc001fnb.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(136-138)gCt>gTt		Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2), transcript variant 1, mRNA.							88	92	90					1																	156025122		2203	4300	6503	SO:0001583	missense	28956				cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		g.chr1:156025122C>T	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.137C>T	1.37:g.156025122C>T	ENSP00000357288:p.Ala46Val					UBQLN4_uc001fna.3_5'Flank|UBQLN4_uc010pgx.2_5'Flank|LAMTOR2_uc010pgy.1_Missense_Mutation_p.A46V	p.A46V	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN			1	301	+			46					Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	c.137C>T	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	C	36	5.888891	0.97068	.	.	ENSG00000116586	ENST00000368305;ENST00000368304;ENST00000368302	T;T;T	0.41758	0.99;0.99;0.99	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.70227	0.968;0.748	T	0.71144	-0.4678	10	0.87932	D	0	-8.2576	18.4132	0.90559	0.0:1.0:0.0:0.0	.	46;46	Q5VY98;Q9Y2Q5	.;LTOR2_HUMAN	V	46	ENSP00000357288:A46V;ENSP00000357287:A46V;ENSP00000357285:A46V	ENSP00000357285:A46V	A	+	2	0	LAMTOR2	154291746	1.000000	0.71417	0.292000	0.24919	0.845000	0.48019	7.249000	0.78278	2.687000	0.91594	0.655000	0.94253	GCT		0.572	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		T	156025122	C	T	156025122	3	4	201	1	0	0	0	0	1	0	0	0	13512	797	28	3	143	3	ROBLD3	1	156025122	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	5297554	156025122	93225499	2	14120											
SPP2	6694	broad.mit.edu	37	chr2	234967547	234967547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgggagactacatgcaGgaaggattctggagaagatc	13	7	13	8	1	1	3	0	0	1	3	3	7	2	5	1	4	2	1	1	4	3	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr2:234967547G>A	ENST00000168148.3	+	3	366	c.278G>A	c.(277-279)aGg>aAg	p.R93K	SPP2_ENST00000373368.1_Missense_Mutation_p.R93K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	93					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ACTACATGCAGGAAGGATTCT	0.453																																						uc002vvk.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(277-279)aGg>aAg		Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.							115	103	107					2																	234967547		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234967547G>A		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.278G>A	2.37:g.234967547G>A	ENSP00000168148:p.Arg93Lys					SPP2_uc010fyl.1_Missense_Mutation_p.R13K	p.R93K	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	2	363	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	93					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.278G>A	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	G	7.074	0.568895	0.13560	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.40476	1.03;1.03	5.24	4.29	0.51040	.	0.310644	0.31648	N	0.007296	T	0.29882	0.0747	L	0.45228	1.405	0.23454	N	0.997649	B	0.20261	0.043	B	0.23018	0.043	T	0.30765	-0.9967	10	0.02654	T	1	-9.7559	10.2922	0.43603	0.0:0.0:0.7346:0.2654	.	93	Q13103	SPP24_HUMAN	K	93;93;13	ENSP00000362466:R93K;ENSP00000168148:R93K	ENSP00000168148:R93K	R	+	2	0	SPP2	234632286	0.983000	0.35010	0.492000	0.27490	0.882000	0.50991	1.429000	0.34903	1.009000	0.39289	0.591000	0.81541	AGG		0.453	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		A	234967547	G	A	234967547	3	1	201	1	0	0	0	0	1	0	0	0	15086	1000	35	3	288	3	SPP2	2	234967547	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		234967547	8231826	3	14121											
NFXL1	152518	broad.mit.edu	37	chr4	47886362	47886362	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgaaattctaatacttaCataggaataggaacttgaca	18	12	6	5	0	1	2	0	2	1	0	1	4	1	4	0	2	3	0	0	2	9	8			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:47886362C>T	ENST00000507489.1	-	15	2093		c.e15+1		NFXL1_ENST00000329043.3_Splice_Site|NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTAATACTTACATAGGAATAG	0.368																																						uc010igh.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.e15+1		Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.							58	63	62					4																	47886362		2203	4300	6503	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47886362C>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1916+1G>A	4.37:g.47886362C>T						NFXL1_uc003gxp.3_Splice_Site_p.M639_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.M639_splice	p.M639_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			15	2093	-			639					B1Q2K1|Q86VG1|Q8WVH1	Splice_Site	SNP	ENST00000507489.1	37	c.1916_splice	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551698	0.65311	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1474	0.93473	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFXL1	47581119	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	6.557000	0.73937	2.596000	0.87737	0.460000	0.39030	.		0.368	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Intron	T	47886362	C	T	47886362	5	4	201	1	0	0	0	0	0	0	1	0	10388	492	17	3	854	3	NFXL1	4	47886362	Splice_Site	SNP	C	TCGA-28-2499-01A-01D-1494-08		47886362	143267914	4	14122											
FRAS1	80144	broad.mit.edu	37	chr4	79402982	79402982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagattccagttatccGccatggtactgacctctcta	11	12	7	11	1	1	2	0	1	1	1	4	2	3	2	4	1	1	3	4	1	5	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:79402982G>A	ENST00000264895.6	+	57	8908	c.8468G>A	c.(8467-8469)cGc>cAc	p.R2823H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2819	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAGTTATCCGCCATGGTACT	0.468																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8467-8469)cGc>cAc		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							207	209	209					4																	79402982		1916	4122	6038	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79402982G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8468G>A	4.37:g.79402982G>A	ENSP00000264895:p.Arg2823His						p.R2823H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			56	8908	+			2818			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8468G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609785	0.87258	.	.	ENSG00000138759	ENST00000264895	T	0.43294	0.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82701	-0.0327	10	0.87932	D	0	.	19.626	0.95678	0.0:0.0:1.0:0.0	.	2823	E9PHH6	.	H	2823	ENSP00000264895:R2823H	ENSP00000264895:R2823H	R	+	2	0	FRAS1	79622006	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	9.723000	0.98772	2.616000	0.88540	0.650000	0.86243	CGC		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79402982	G	A	79402982	3	1	201	1	0	0	0	0	1	0	0	0	6042	1087	38	1	8769	1	FRAS1	4	79402982	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	31516620	79402982	111751294	5	14123											
CDH9	1007	broad.mit.edu	37	chr5	26902807	26902807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgcatccactcttaaaGtatagagcatttgattttca	12	16	5	8	0	2	2	1	1	1	1	3	2	3	2	1	0	3	3	1	0	5	8			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:26902807G>T	ENST00000231021.4	-	7	1203	c.1031C>A	c.(1030-1032)aCt>aAt	p.T344N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	344	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACTCTTAAAGTATAGAGCAT	0.328																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1030-1032)aCt>aAt		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							65	65	65					5																	26902807		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902807G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1031C>A	5.37:g.26902807G>T	ENSP00000231021:p.Thr344Asn						p.T344N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1200	-			344			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1031C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004301	0.54254	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.62	5.62	0.85841	Cadherin (5);Cadherin-like (1);	0.317230	0.34932	N	0.003577	T	0.61248	0.2332	L	0.58510	1.815	0.45150	D	0.998167	P	0.35628	0.513	P	0.50590	0.645	T	0.54675	-0.8258	9	.	.	.	.	18.2244	0.89913	0.0:0.0:1.0:0.0	.	344	Q9ULB4	CADH9_HUMAN	N	344	ENSP00000231021:T344N	.	T	-	2	0	CDH9	26938564	0.983000	0.35010	1.000000	0.80357	0.938000	0.57974	3.430000	0.52807	2.648000	0.89879	0.650000	0.86243	ACT		0.328	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26902807	G	T	26902807	3	4	201	1	0	0	0	0	1	0	0	0	3117	1029	36	5	1362	5	CDH9	5	26902807	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		26902807	154012453	6	14124											
PTCD2	79810	broad.mit.edu	37	chr5	71618025	71618025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctacttacagataatGtggtgaaattaaaagaattt	17	13	7	4	0	0	3	0	1	0	2	0	4	0	3	1	1	3	0	1	1	8	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:71618025G>A	ENST00000380639.5	+	2	170	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.V52M|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000457646.4_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000522095.1_5'Flank|PTCD2_ENST00000543322.1_Missense_Mutation_p.V52M	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	52					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TACAGATAATGTGGTGAAATT	0.284																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(154-156)Gtg>Atg		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							117	125	122					5																	71618025		1802	4068	5870	SO:0001583	missense	79810							g.chr5:71618025G>A	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.154G>A	5.37:g.71618025G>A	ENSP00000370013:p.Val52Met					MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.V52M|PTCD2_uc003kcd.3_Non-coding_Transcript	p.V52M	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	1	164	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	52					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.154G>A	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108904	0.37242	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	T;T	0.55588	0.51;0.51	5.85	-4.82	0.03171	.	0.823941	0.11170	N	0.592100	T	0.46776	0.1410	L	0.34521	1.04	0.39499	D	0.968173	P;P	0.47841	0.879;0.901	P;P	0.49332	0.595;0.607	T	0.57124	-0.7865	10	0.42905	T	0.14	.	14.1337	0.65273	0.5312:0.0:0.4688:0.0	.	52;52	E9PFV7;Q8WV60	.;PTCD2_HUMAN	M	52	ENSP00000370013:V52M;ENSP00000438810:V52M	ENSP00000308948:V52M	V	+	1	0	PTCD2	71653781	0.148000	0.22702	0.054000	0.19295	0.632000	0.37999	-0.083000	0.11286	-0.640000	0.05495	-0.290000	0.09829	GTG		0.284	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		A	71618025	G	A	71618025	3	1	201	1	0	0	0	0	1	0	0	0	12728	1377	48	3	160	3	PTCD2	5	71618025	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	44715218	71618025	109297235	7	14125											
VDAC1	7416	broad.mit.edu	37	chr5	133326760	133326760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctctgtaaacgtcaggCcgtactcagtccatctgtac	9	13	7	12	2	4	0	2	0	2	0	6	0	5	0	2	1	3	3	2	1	4	4			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:133326760C>T	ENST00000265333.3	-	4	447	c.203G>A	c.(202-204)gGc>gAc	p.G68D	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.G68D|VDAC1_ENST00000395047.2_Missense_Mutation_p.G68D	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	68					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AAACGTCAGGCCGTACTCAGT	0.463																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.2																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(202-204)gGc>gAc		Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Dihydroxyaluminium(DB01375)						190	170	177					5																	133326760		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326760C>T		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.203G>A	5.37:g.133326760C>T	ENSP00000265333:p.Gly68Asp					VDAC1_uc003kyq.2_Missense_Mutation_p.G68D|VDAC1_uc003kyr.2_Missense_Mutation_p.G68D	p.G68D	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		3	526	-			68					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.203G>A	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499253	0.96355	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.92169	3.28	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.81863	-0.0737	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	68	P21796	VDAC1_HUMAN	D	68	ENSP00000265333:G68D;ENSP00000378484:G68D;ENSP00000378487:G68D;ENSP00000390129:G68D	ENSP00000265333:G68D	G	-	2	0	VDAC1	133354659	1.000000	0.71417	0.951000	0.38953	0.971000	0.66376	7.750000	0.85110	2.793000	0.96121	0.655000	0.94253	GGC		0.463	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			T	133326760	C	T	133326760	3	4	201	1	0	0	0	0	1	0	0	0	17143	739	26	3	672	3	VDAC1	5	133326760	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	61708735	133326760	47588500	8	14126											
HLA-DOB	3112	broad.mit.edu	37	chr6	32782892	32782892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccatccacggcctgtctgCtcctctccaagagatccagc	7	8	7	19	1	2	1	0	0	2	1	6	2	5	1	7	1	2	1	7	1	1	0			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:32782892C>T	ENST00000438763.2	-	2	386	c.290G>A	c.(289-291)aGc>aAc	p.S97N	TAP2_ENST00000452392.2_Missense_Mutation_p.S704N	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	97	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCTGTCTGCTCCTCTCCAA	0.592																																						uc011dqf.1																			0											c.(2110-2112)aGc>aAc		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.							74	65	68					6																	32782892		2203	4300	6503	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782892C>T		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.290G>A	6.37:g.32782892C>T	ENSP00000390020:p.Ser97Asn					TAP2_uc003oca.3_Missense_Mutation_p.S97N|TAP2_uc011dqg.1_Missense_Mutation_p.S97N	p.S704N	NM_018833	NP_061313	Q03519	TAP2_HUMAN			12	2233	-			0					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2111G>A	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656914	0.29425	.	.	ENSG00000241106;ENSG00000204267;ENSG00000250264	ENST00000438763;ENST00000556934;ENST00000452392	T;T	0.00333	8.07;8.07	4.28	2.47	0.30058	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.318800	0.01488	N	0.016960	T	0.00210	0.0006	L	0.39020	1.185	0.09310	N	1	D;P;D	0.69078	0.997;0.948;0.979	D;P;P	0.66602	0.945;0.507;0.76	T	0.55749	-0.8092	10	0.66056	D	0.02	.	5.1809	0.15160	0.0:0.6662:0.0:0.3338	.	97;704;97	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	N	97;704;704	ENSP00000390020:S97N;ENSP00000391806:S704N	ENSP00000390020:S97N	S	-	2	0	XXbac-BPG246D15.9;TAP2;HLA-DOB	32890870	0.000000	0.05858	0.064000	0.19789	0.059000	0.15707	-0.056000	0.11787	1.129000	0.42072	0.596000	0.82720	AGC		0.592	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		T	32782892	C	T	32782892	3	4	201	1	0	0	0	0	1	0	0	0	7201	797	28	3	551	3	HLA-DOB	6	32782892	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		32782892	138332175	9	14127											
FAM83B	222584	broad.mit.edu	37	chr6	54806575	54806575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcggcgtgtttacagtCgttttgagccgttttgtaag	6	16	12	7	4	0	2	0	2	0	0	2	2	0	2	1	1	2	4	1	1	2	7			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:54806575C>T	ENST00000306858.7	+	5	2922	c.2806C>T	c.(2806-2808)Cgt>Tgt	p.R936C	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	936										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTTACAGTCGTTTTGAGCC	0.438																																						uc003pck.3																			0		p.R936H(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2806-2808)Cgt>Tgt		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							102	93	96					6																	54806575		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806575C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2806C>T	6.37:g.54806575C>T	ENSP00000304078:p.Arg936Cys						p.R936C	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	2922	+	Lung NSC(77;0.0178)|Renal(3;0.122)		936					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2806C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077901	0.76528	.	.	ENSG00000168143	ENST00000306858	T	0.25749	1.78	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50013	-0.8877	10	0.87932	D	0	-16.5944	16.4561	0.84015	0.1324:0.8676:0.0:0.0	.	936	Q5T0W9	FA83B_HUMAN	C	936	ENSP00000304078:R936C	ENSP00000304078:R936C	R	+	1	0	FAM83B	54914534	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.167000	0.50793	1.496000	0.48567	0.655000	0.94253	CGT		0.438	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54806575	C	T	54806575	3	4	201	1	0	0	0	0	1	0	0	0	5634	884	31	2	2820	2	FAM83B	6	54806575	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	22023683	54806575	116308492	10	14128											
DDX56	54606	broad.mit.edu	37	chr7	44611974	44611974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatatcagctccttgagtGcttgtacgtcctcgttaaaa	10	14	8	9	2	1	1	1	1	0	0	4	1	3	1	2	0	3	5	2	0	5	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:44611974G>A	ENST00000258772.5	-	5	723	c.617C>T	c.(616-618)gCa>gTa	p.A206V	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.A206V	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCCTTGAGTGCTTGTACGTC	0.473																																						uc003tlg.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(616-618)gCa>gTa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.							94	82	86					7																	44611974		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611974G>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.617C>T	7.37:g.44611974G>A	ENSP00000258772:p.Ala206Val					DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_Non-coding_Transcript	p.A206V	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			4	1260	-			206			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.617C>T	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.534429	0.85812	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.44083	0.93;0.93	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.145674	0.64402	D	0.000010	T	0.42743	0.1216	L	0.43598	1.365	0.53005	D	0.999963	B;B	0.26318	0.016;0.146	B;B	0.32289	0.026;0.143	T	0.18967	-1.0320	10	0.48119	T	0.1	-3.1372	18.1378	0.89627	0.0:0.0:1.0:0.0	.	206;206	C9JV95;Q9NY93	.;DDX56_HUMAN	V	206	ENSP00000258772:A206V;ENSP00000393488:A206V	ENSP00000258772:A206V	A	-	2	0	DDX56	44578499	1.000000	0.71417	0.764000	0.31436	0.967000	0.64934	6.822000	0.75277	2.884000	0.98904	0.655000	0.94253	GCA		0.473	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		A	44611974	G	A	44611974	3	1	201	1	0	0	0	0	1	0	0	0	4374	1319	46	3	1066	3	DDX56	7	44611974	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		44611974	114526689	11	14129											
MAGI2	9863	broad.mit.edu	37	chr7	77756518	77756518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccgggaggaggtacctggGgttgtctgtagtccgacaga	7	9	16	9	2	1	1	0	0	1	1	3	4	3	3	3	5	1	3	3	5	2	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:77756518G>T	ENST00000354212.4	-	19	3672	c.3419C>A	c.(3418-3420)cCc>cAc	p.P1140H	MAGI2_ENST00000522391.1_Missense_Mutation_p.P1140H|MAGI2_ENST00000419488.1_Missense_Mutation_p.P1126H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1140					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTACCTGGGGTTGTCTGTA	0.597																																						uc003ugx.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3418-3420)cCc>cAc		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.							78	81	80					7																	77756518		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77756518G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3419C>A	7.37:g.77756518G>T	ENSP00000346151:p.Pro1140His					MAGI2_uc003ugy.3_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H	p.P1140H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			18	3673	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1140					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3419C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256350	0.39896	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.18016	2.24;2.24;2.24	5.33	5.33	0.75918	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002564	T	0.12817	0.0311	N	0.24115	0.695	0.80722	D	1	B;B;B	0.18461	0.001;0.01;0.028	B;B;B	0.15870	0.001;0.007;0.014	T	0.04467	-1.0949	10	0.49607	T	0.09	.	12.7071	0.57067	0.0758:0.0:0.9242:0.0	.	1140;1126;1140	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	1126;1140;1140;1140	ENSP00000405766:P1126H;ENSP00000346151:P1140H;ENSP00000428389:P1140H	ENSP00000346151:P1140H	P	-	2	0	MAGI2	77594454	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.680000	0.68168	2.644000	0.89710	0.655000	0.94253	CCC		0.597	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77756518	G	T	77756518	3	4	201	1	0	0	0	0	1	0	0	0	9191	1232	43	5	964	5	MAGI2	7	77756518	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	33144544	77756518	81382145	12	14130											
LAMB4	22798	broad.mit.edu	37	chr7	107746315	107746315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctgcatagggcgacattCgctagcatggccattgcaaa	10	10	10	11	2	1	0	0	0	1	0	2	1	1	0	1	2	3	4	1	2	3	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:107746315C>T	ENST00000388781.3	-	8	900	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	LAMB4_ENST00000414450.2_Missense_Mutation_p.E273K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E273K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E273K|LAMB4_ENST00000418464.1_Missense_Mutation_p.E273K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	273	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCGACATTCGCTAGCATGG	0.468																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(817-819)Gaa>Aaa		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							120	105	110					7																	107746315		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107746315C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.817G>A	7.37:g.107746315C>T	ENSP00000373433:p.Glu273Lys					LAMB4_uc003vey.2_Missense_Mutation_p.E273K	p.E273K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			7	901	-			273			Laminin EGF-like 1.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.817G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894592	0.33442	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	4.78	0.866	0.19079	EGF-like, laminin (3);	0.265665	0.26601	N	0.023475	T	0.34658	0.0905	N	0.25825	0.765	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.18398	-1.0338	10	0.54805	T	0.06	.	0.6021	0.00746	0.2243:0.3343:0.2063:0.2351	.	273	A4D0S4	LAMB4_HUMAN	K	273	ENSP00000205386:E273K;ENSP00000373433:E273K;ENSP00000373432:E273K;ENSP00000402353:E273K;ENSP00000402265:E273K	ENSP00000205386:E273K	E	-	1	0	LAMB4	107533551	0.000000	0.05858	0.092000	0.20876	0.873000	0.50193	0.025000	0.13577	0.234000	0.21139	-0.137000	0.14449	GAA		0.468	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107746315	C	T	107746315	3	4	201	1	0	0	0	0	1	0	0	0	8613	893	31	2	4576	2	LAMB4	7	107746315	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	29989797	107746315	51392348	13	14131											
LGI3	203190	broad.mit.edu	37	chr8	22005999	22005999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtcgccaatgtagcGgctgaggcacaggtagctgt	8	9	15	9	2	0	1	0	1	0	0	1	2	0	2	1	4	2	5	1	4	3	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:22005999G>A	ENST00000306317.2	-	8	1610	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	LGI3_ENST00000424267.2_Missense_Mutation_p.R417C	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	441					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAATGTAGCGGCTGAGGCAC	0.657																																						uc003xav.3																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1321-1323)Cgc>Tgc		Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.							39	36	37					8																	22005999		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22005999G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1321C>T	8.37:g.22005999G>A	ENSP00000302297:p.Arg441Cys					LGI3_uc010ltu.3_Missense_Mutation_p.R417C	p.R441C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	7	1610	-			441					A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.1321C>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395436	0.62066	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.81163	-1.46;-1.46	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86860	0.2029	10	0.59425	D	0.04	-32.7057	11.3377	0.49513	0.0:0.0:0.8185:0.1815	.	417;441	A5PLP2;Q8N145	.;LGI3_HUMAN	C	441;417	ENSP00000302297:R441C;ENSP00000399121:R417C	ENSP00000302297:R441C	R	-	1	0	LGI3	22061944	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	4.777000	0.62361	2.396000	0.81511	0.561000	0.74099	CGC		0.657	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			A	22005999	G	A	22005999	3	1	201	1	0	0	0	0	1	0	0	0	8753	1116	39	2	329	2	LGI3	8	22005999	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		22005999	124358023	14	14132											
NRG1	3084	broad.mit.edu	37	chr8	32599524	32599524	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccacatttttgccctctAggtgccaacctggattcact	8	14	6	13	0	2	0	1	0	1	0	2	1	2	1	4	2	4	0	4	2	3	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:32599524A>G	ENST00000405005.3	+	7	632		c.e7-1		NRG1_ENST00000341377.5_Splice_Site|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000521670.1_Splice_Site|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000338921.4_Splice_Site|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTGCCCTCTAGGTGCCAACC	0.378																																						uc003xiv.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.e7-2		Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.							116	107	110					8																	32599524		2203	4300	6503	SO:0001630	splice_region_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32599524A>G	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.633-1A>G	8.37:g.32599524A>G						NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Splice_Site_p.K211_splice|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Splice_Site_p.K101_splice|NRG1_uc003xiy.3_Intron|NRG1_uc011lbg.1_Splice_Site_p.K57_splice|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_Splice_Site|NRG1_uc003xja.2_Splice_Site_p.K14_splice	p.K211_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	7	1150	+		Breast(100;0.203)	211			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Splice_Site	SNP	ENST00000405005.3	37	c.633_splice	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860462	0.71834	.	.	ENSG00000157168	ENST00000338921;ENST00000287840;ENST00000341377;ENST00000405005;ENST00000521670;ENST00000518206;ENST00000522402	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRG1	32719066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.372000	0.90127	2.326000	0.78906	0.533000	0.62120	.		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		Intron	G	32599524	A	G	32599524	5	3	201	1	0	0	0	0	0	0	1	0	10647	434	15	4	2127	4	NRG1	8	32599524	Splice_Site	SNP	A	TCGA-28-2499-01A-01D-1494-08	10593525	32599524	113764498	15	14133											
GML	2765	broad.mit.edu	37	chr8	143928002	143928002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaaagggacatgttacccGatgaagtaactgaggaggag	14	8	14	5	1	0	3	0	3	0	0	0	7	0	6	1	3	2	2	1	3	4	3	rs181298814		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:143928002G>A	ENST00000220940.1	+	4	463	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	125	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGTTACCCGATGAAGTAAC	0.418													g|||	1	0.000199681	0	0	5008	,	,		17855	0		0.001	False		,,,				2504	0					uc003yxg.3																			0		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(373-375)Gat>Aat		Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.							111	108	109					8																	143928002		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143928002G>A	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"GPI anchored molecule like protein", "glycosylphosphatidylinositol anchored molecule like protein"			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.373G>A	8.37:g.143928002G>A	ENSP00000220940:p.Asp125Asn						p.D125N	NM_002066	NP_002057	Q99445	GML_HUMAN			3	463	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		125			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.373G>A	CCDS6391.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	N	15.04	2.715915	0.48622	.	.	ENSG00000104499	ENST00000220940	T	0.48522	0.81	3.52	1.58	0.23477	.	0.831620	0.10132	N	0.711911	T	0.44393	0.1291	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	P	0.51582	0.674	T	0.29761	-1.0001	10	0.66056	D	0.02	-13.3781	4.0446	0.09766	0.1254:0.0:0.6025:0.2721	.	125	Q99445	GML_HUMAN	N	125	ENSP00000220940:D125N	ENSP00000220940:D125N	D	+	1	0	GML	143925004	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.348000	0.07740	0.405000	0.25532	0.557000	0.71058	GAT		0.418	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		A	143928002	G	A	143928002	3	1	201	1	0	0	0	0	1	0	0	0	6492	1058	37	2	383	2	GML	8	143928002	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	111328478	143928002	2436020	16	14134											
OR2K2	26248	broad.mit.edu	37	chr9	114090554	114090554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgggggttttaaggcGtgaatctaggatagtgatca	11	12	14	4	1	2	2	1	2	1	0	2	3	2	3	0	4	1	2	0	4	5	5	rs117283259	byFrequency	TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr9:114090554G>A	ENST00000374428.1	-	1	246	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	OR2K2_ENST00000302681.1_Missense_Mutation_p.R54C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTTTTAAGGCGTGAATCTAGG	0.433													G|||	5	0.000998403	0.003	0	5008	,	,		19793	0		0.001	False		,,,				2504	0					uc011lwp.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(160-162)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.		G	CYS/ARG	14,4392	21.2+/-45.6	0,14,2189	93	93	93		160	2.8	0	9	dbSNP_132	93	0,8600		0,0,4300	yes	missense	OR2K2	NM_205859.1	180	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	54/317	114090554	14,12992	2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090554G>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.247C>T	9.37:g.114090554G>A	ENSP00000363550:p.Arg83Cys						p.R54C	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			0	160	-			83					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.160C>T		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	4.121	0.020744	0.08006	0.003177	0.0	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00450	7.36;7.36	4.67	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.561518	0.14769	N	0.299533	T	0.00440	0.0014	M	0.70275	2.135	0.09310	N	1	B	0.23490	0.086	B	0.10450	0.005	T	0.38735	-0.9647	10	0.56958	D	0.05	.	9.3414	0.38082	0.1771:0.0:0.8229:0.0	.	83	Q8NGT1	OR2K2_HUMAN	C	54;83	ENSP00000305055:R54C;ENSP00000363550:R83C	ENSP00000305055:R54C	R	-	1	0	OR2K2	113130375	0.000000	0.05858	0.003000	0.11579	0.152000	0.21847	0.414000	0.21164	0.714000	0.32081	0.655000	0.94253	CGC		0.433	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		A	114090554	G	A	114090554	3	1	201	1	0	0	0	0	1	0	0	0	11005	1145	40	1	793	1	OR2K2	9	114090554	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		114090554	27122877	17	14135											
PHRF1	57661	broad.mit.edu	37	chr11	607393	607393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccccttgcctctgccgCgtctaagatctcaagcagag	7	10	9	15	2	3	2	1	0	3	2	4	2	3	2	4	0	4	1	4	0	2	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:607393C>T	ENST00000264555.5	+	14	2065	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	PHRF1_ENST00000413872.2_Missense_Mutation_p.A644V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A642V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A645V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	646					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.A651V(1)|p.A646V(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTGCCGCGTCTAAGATC	0.587																																						uc001lqe.3																			2	Substitution - Missense(2)	p.A651V(1)|p.A646V(1)	lung(2)	breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1936-1938)gCg>gTg		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							82	92	89					11																	607393		2036	4177	6213	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607393C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1937C>T	11.37:g.607393C>T	ENSP00000264555:p.Ala646Val					PHRF1_uc010qwc.2_Missense_Mutation_p.A645V|PHRF1_uc010qwd.2_Missense_Mutation_p.A644V|PHRF1_uc010qwe.2_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.2_Non-coding_Transcript	p.A646V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	2068	+			646					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1937C>T		.	.	.	.	.	.	.	.	.	.	C	14.76	2.630337	0.46944	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.93	3.02	0.34903	.	1.475390	0.04636	N	0.404428	D	0.87489	0.6190	L	0.29908	0.895	0.09310	N	1	B;P;P;B	0.36660	0.429;0.564;0.564;0.429	B;B;B;B	0.33295	0.077;0.161;0.161;0.077	T	0.77830	-0.2442	10	0.56958	D	0.05	-1.4707	9.6866	0.40103	0.0:0.9021:0.0:0.0979	.	642;644;645;646	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	646;644;645;642	ENSP00000264555:A646V;ENSP00000388589:A644V;ENSP00000410626:A645V;ENSP00000431870:A642V	ENSP00000264555:A646V	A	+	2	0	PHRF1	597393	0.102000	0.21896	0.001000	0.08648	0.002000	0.02628	2.568000	0.45965	0.850000	0.35239	0.462000	0.41574	GCG		0.587	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	607393	C	T	607393	3	4	201	1	0	0	0	0	1	0	0	0	11861	768	27	1	1984	1	PHRF1	11	607393	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		607393	134399123	18	14136											
FAT3	120114	broad.mit.edu	37	chr11	92531786	92531786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagagtcccgttgaagtCaacattgaggtgacagatgt	12	9	13	7	1	1	5	1	3	0	2	2	6	2	5	1	1	1	2	1	1	2	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:92531786C>T	ENST00000298047.6	+	9	5624	c.5607C>T	c.(5605-5607)gtC>gtT	p.V1869V	FAT3_ENST00000525166.1_Silent_p.V1719V|FAT3_ENST00000409404.2_Silent_p.V1869V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1869	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGTTGAAGTCAACATTGAGG	0.463										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5605-5607)gtC>gtT		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							117	106	110					11																	92531786		1988	4171	6159	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531786C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5607C>T	11.37:g.92531786C>T		TCGA Ovarian(4;0.039)					p.V1869V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	5624	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1869			Cadherin 16.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5607C>T																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92531786	C	T	92531786	2	4	201	1	0	0	0	0	0	0	0	1	5691	813	29	3		3	FAT3	11	92531786	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	91924393	92531786	42474730	19	14137											
TRPC6	7225	broad.mit.edu	37	chr11	101323804	101323804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagttcatagcggagaCttgagatgtcctgcttaatt	11	12	11	7	1	1	2	1	1	0	2	2	5	2	3	1	2	2	2	1	2	3	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:101323804C>A	ENST00000344327.3	-	13	3102	c.2678G>T	c.(2677-2679)aGt>aTt	p.S893I	TRPC6_ENST00000348423.4_Missense_Mutation_p.S777I|TRPC6_ENST00000360497.4_Missense_Mutation_p.S838I|TRPC6_ENST00000532133.1_Missense_Mutation_p.S815I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	893					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATAGCGGAGACTTGAGATGTC	0.388																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2677-2679)aGt>aTt		Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.							143	140	141					11																	101323804		2203	4300	6503	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323804C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2678G>T	11.37:g.101323804C>A	ENSP00000340913:p.Ser893Ile					TRPC6_uc009ywy.3_Missense_Mutation_p.S777I	p.S893I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	12	3103	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	893					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2678G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946171	0.92593	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.65	5.65	0.86999	.	0.147225	0.85682	D	0.000000	D	0.94275	0.8161	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94494	0.7704	10	0.87932	D	0	-21.1595	19.7968	0.96490	0.0:1.0:0.0:0.0	.	777;893	Q9Y210-2;Q9Y210	.;TRPC6_HUMAN	I	893;815;777;838	ENSP00000340913:S893I;ENSP00000435574:S815I;ENSP00000343672:S777I;ENSP00000353687:S838I	ENSP00000340913:S893I	S	-	2	0	TRPC6	100829014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.679000	0.91253	0.650000	0.86243	AGT		0.388	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		A	101323804	C	A	101323804	3	1	201	1	0	0	0	0	1	0	0	0	16580	565	20	5	121	5	TRPC6	11	101323804	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	8792018	101323804	33682712	20	14138											
ANO2	57101	broad.mit.edu	37	chr12	5908717	5908717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagaacactccatagcgCgcccattcttgatatagcag	12	11	7	11	2	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	6	7	rs376218931		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr12:5908717C>T	ENST00000356134.5	-	11	1073	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	ANO2_ENST00000327087.8_Silent_p.A333A|ANO2_ENST00000546188.1_Silent_p.A334A	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	338					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCCATAGCGCGCCCATTCTT	0.418																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(997-999)gcG>gcA		Homo sapiens anoctamin 2 (ANO2), mRNA.		C		0,3710		0,0,1855	78	71	73		999	-1.1	1	12		73	1,8219		0,1,4109	no	coding-synonymous	ANO2	NM_020373.2		0,1,5964	TT,TC,CC		0.0122,0.0,0.0084		333/999	5908717	1,11929	1855	4110	5965	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908717C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1002G>A	12.37:g.5908717C>T							p.A333A	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			9	1071	-			338					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.999G>A																																																																																					0.418	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		T	5908717	C	T	5908717	2	4	201	1	0	0	0	0	0	0	0	1	697	755	27	1		1	ANO2	12	5908717	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08		5908717	127943178	21	14139											
LECT1	11061	broad.mit.edu	37	chr13	53307443	53307443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgtctatttccattgAcccatcttgtaatttcccat	8	15	4	14	1	2	1	0	1	2	0	4	1	4	1	4	0	1	1	4	0	2	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:53307443A>G	ENST00000377962.3	-	3	343	c.265T>C	c.(265-267)Tca>Cca	p.S89P	LECT1_ENST00000448904.2_Missense_Mutation_p.S89P			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	89					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATTTCCATTGACCCATCTTGT	0.363																																						uc001vhf.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(265-267)Tca>Cca		Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.							176	164	168					13																	53307443		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53307443A>G	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.265T>C	13.37:g.53307443A>G	ENSP00000367198:p.Ser89Pro					LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P	p.S89P	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	2	376	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	89					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.265T>C	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934224	0.73442	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550;ENST00000545757	T;T;T	0.33865	1.4;1.39;1.39	6.07	6.07	0.98685	.	0.172780	0.52532	D	0.000080	T	0.44477	0.1295	L	0.29908	0.895	0.53688	D	0.999971	D;D;D	0.60575	0.988;0.979;0.964	P;P;P	0.58454	0.676;0.839;0.694	T	0.21861	-1.0233	10	0.35671	T	0.21	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	125;89;89	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	P	89;89;11;69	ENSP00000388576:S89P;ENSP00000367198:S89P;ENSP00000396035:S11P	ENSP00000367198:S89P	S	-	1	0	LECT1	52205444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.655000	0.61476	2.326000	0.78906	0.533000	0.62120	TCA		0.363	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			G	53307443	A	G	53307443	3	3	201	1	0	0	0	0	1	0	0	0	8712	275	10	4	759	4	LECT1	13	53307443	Missense_Mutation	SNP	A	TCGA-28-2499-01A-01D-1494-08		53307443	61862435	22	14140											
TFDP1	7027	broad.mit.edu	37	chr13	114286001	114286001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtaggaagcccacacaccCccagcactcactttgcctct	9	8	7	17	0	2	0	1	0	1	0	2	1	2	1	4	2	3	2	4	2	2	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:114286001C>A	ENST00000375370.5	+	5	462	c.250C>A	c.(250-252)Ccc>Acc	p.P84T	TFDP1_ENST00000544902.1_Intron|TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	84					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CCCACACACCCCCAGCACTCA	0.557										TSP Lung(29;0.18)																												uc001vtw.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(250-252)Ccc>Acc		Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.							159	130	140					13																	114286001		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114286001C>A	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.250C>A	13.37:g.114286001C>A	ENSP00000364519:p.Pro84Thr	TSP Lung(29;0.18)				TFDP1_uc010tkd.2_Intron|TFDP1_uc010tke.2_Intron|TFDP1_uc001vty.4_Missense_Mutation_p.P84T|TFDP1_uc010agx.3_Missense_Mutation_p.P84T	p.P84T	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		4	462	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	84					B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.250C>A	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509312	0.85282	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.38887	1.73;1.22;1.11	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.69705	-0.5073	10	0.54805	T	0.06	.	17.2402	0.87011	0.0:1.0:0.0:0.0	.	84;84;84	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	T	84	ENSP00000364519:P84T;ENSP00000386145:P84T;ENSP00000401389:P84T	ENSP00000364519:P84T	P	+	1	0	TFDP1	113334002	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	6.974000	0.76122	2.134000	0.65973	0.313000	0.20887	CCC		0.557	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		A	114286001	C	A	114286001	3	1	201	1	0	0	0	0	1	0	0	0	15794	623	22	5	264	5	TFDP1	13	114286001	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	60978558	114286001	883877	23	14141											
WDR72	256764	broad.mit.edu	37	chr15	53908374	53908374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaatatgaaagccaaCgttactccattttgtcttca	14	13	6	8	1	2	3	1	1	1	2	3	3	3	3	2	0	3	1	2	0	7	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:53908374C>T	ENST00000396328.1	-	15	2268	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	WDR72_ENST00000559418.1_Missense_Mutation_p.V687I|WDR72_ENST00000360509.5_Missense_Mutation_p.V677I|WDR72_ENST00000557913.1_Missense_Mutation_p.V674I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	677										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGAAAGCCAACGTTACTCCAT	0.378																																						uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2029-2031)Gtt>Att		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							74	70	72					15																	53908374		2194	4291	6485	SO:0001583	missense	256764							g.chr15:53908374C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2029G>A	15.37:g.53908374C>T	ENSP00000379619:p.Val677Ile					WDR72_uc010bfi.1_Missense_Mutation_p.V677I	p.V677I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	14	2071	-			677					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2029G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275057	0.05679	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34275	1.37;1.37	5.23	-4.31	0.03698	.	1.159420	0.06239	N	0.689984	T	0.12944	0.0314	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	10	0.17832	T	0.49	.	7.8085	0.29217	0.1105:0.4537:0.0:0.4359	.	677	Q3MJ13	WDR72_HUMAN	I	677	ENSP00000379619:V677I;ENSP00000353699:V677I	ENSP00000353699:V677I	V	-	1	0	WDR72	51695666	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-0.838000	0.04372	-0.660000	0.05352	-0.657000	0.03884	GTT		0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53908374	C	T	53908374	3	4	201	1	0	0	0	0	1	0	0	0	17319	536	19	1	1303	1	WDR72	15	53908374	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		53908374	48623018	24	14142											
TLN2	83660	broad.mit.edu	37	chr15	63063321	63063321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagccaaagaaggtggCggaaaccccaaggtatggtc	13	6	13	9	1	0	1	0	0	0	1	1	2	0	2	3	5	3	2	3	5	6	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:63063321C>T	ENST00000561311.1	+	41	5585	c.5355C>T	c.(5353-5355)ggC>ggT	p.G1785G	TLN2_ENST00000306829.6_Silent_p.G1785G|TLN2_ENST00000472902.1_Silent_p.G178G			Q9Y4G6	TLN2_HUMAN	talin 2	1785					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGAAGGTGGCGGAAACCCCA	0.507																																						uc002alb.4																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5353-5355)ggC>ggT		Homo sapiens talin 2 (TLN2), mRNA.							99	93	95					15																	63063321		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63063321C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5355C>T	15.37:g.63063321C>T						TLN2_uc002alc.4_Silent_p.G178G|TLN2_uc002ald.3_Silent_p.G178G	p.G1785G	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			38	5355	+			1785					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5355C>T	CCDS32261.1																																																																																				0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63063321	C	T	63063321	2	4	201	1	0	0	0	0	0	0	0	1	15945	755	27	1		1	TLN2	15	63063321	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	9154947	63063321	39468071	25	14143											
AXIN1	8312	broad.mit.edu	37	chr16	339566	339566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacgatgctgtcacacGgctgggcactcccgccgccc	7	5	10	19	4	1	0	1	0	0	0	2	1	2	0	4	2	2	3	4	2	1	0			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:339566G>A	ENST00000262320.3	-	10	2707	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	AXIN1_ENST00000354866.3_Missense_Mutation_p.P743L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	779	Interaction with PPP2CA.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.P779L(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637																																						uc002cgp.2																			1	Substitution - Missense(1)	p.P779L(2)	urinary_tract(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2335-2337)cCg>cTg		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							59	55	56					16																	339566		2199	4299	6498	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339566G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2336C>T	16.37:g.339566G>A	ENSP00000262320:p.Pro779Leu					LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.P743L	p.P779L	NM_003502	NP_003493	O15169	AXIN1_HUMAN			9	2725	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	779			Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2336C>T	CCDS10405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.49|14.49	2.551173|2.551173	0.45383|0.45383	.|.	.|.	ENSG00000103126|ENSG00000103126	ENST00000262320;ENST00000354866|ENST00000457798	T;T|.	0.62232|.	0.18;0.04|.	4.44|4.44	3.48|3.48	0.39840|0.39840	.|.	0.177429|.	0.51477|.	N|.	0.000094|.	T|T	0.57301|0.57301	0.2044|0.2044	L|L	0.52364|0.52364	1.645|1.645	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.12630|.	0.003;0.006|.	B;B|.	0.12837|.	0.008;0.003|.	T|T	0.52298|0.52298	-0.8594|-0.8594	10|5	0.25751|.	T|.	0.34|.	-20.0698|-20.0698	8.8337|8.8337	0.35100|0.35100	0.1741:0.0:0.8259:0.0|0.1741:0.0:0.8259:0.0	.|.	743;779|.	O15169-2;O15169|.	.;AXIN1_HUMAN|.	L|C	779;743|31	ENSP00000262320:P779L;ENSP00000346935:P743L|.	ENSP00000262320:P779L|.	P|R	-|-	2|1	0|0	AXIN1|AXIN1	279567|279567	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.058000|0.058000	0.15608|0.15608	4.696000|4.696000	0.61774|0.61774	0.873000|0.873000	0.35799|0.35799	0.313000|0.313000	0.20887|0.20887	CCG|CGT		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			A	339566	G	A	339566	3	1	201	1	0	0	0	0	1	0	0	0	1236	1116	39	2	260	2	AXIN1	16	339566	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		339566	90015187	26	14144											
TEKT5	146279	broad.mit.edu	37	chr16	10788283	10788283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcagctctgacttccagaAgccaatgtccgacagcctct	9	9	8	15	1	3	2	1	1	2	1	5	3	5	2	4	0	3	2	4	0	2	1			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:10788283A>G	ENST00000283025.2	-	1	519	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	150						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GACTTCCAGAAGCCAATGTCC	0.597																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(448-450)Ttc>Ctc		Homo sapiens tektin 5 (TEKT5), mRNA.							103	109	107					16																	10788283		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788283A>G		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.448T>C	16.37:g.10788283A>G	ENSP00000283025:p.Phe150Leu						p.F150L	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			0	520	-			150					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.448T>C	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	18.57	3.652480	0.67472	.	.	ENSG00000153060	ENST00000283025	T	0.02656	4.21	5.4	5.4	0.78164	.	0.088794	0.49916	D	0.000133	T	0.12944	0.0314	M	0.74881	2.28	0.80722	D	1	D	0.61080	0.989	P	0.61722	0.893	T	0.00145	-1.1993	10	0.72032	D	0.01	-30.4584	14.5344	0.67950	1.0:0.0:0.0:0.0	.	150	Q96M29	TEKT5_HUMAN	L	150	ENSP00000283025:F150L	ENSP00000283025:F150L	F	-	1	0	TEKT5	10695784	1.000000	0.71417	0.984000	0.44739	0.141000	0.21300	8.678000	0.91211	2.161000	0.67846	0.528000	0.53228	TTC		0.597	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		G	10788283	A	G	10788283	3	3	201	1	0	0	0	0	1	0	0	0	15753	72	3	4	1037	4	TEKT5	16	10788283	Missense_Mutation	SNP	A	TCGA-28-2499-01A-01D-1494-08	10448717	10788283	79566470	27	14145											
PKD1L2	114780	broad.mit.edu	37	chr16	81219137	81219137	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgcagacacgtagaGgcactgctctgccctgttct	7	8	12	14	2	2	2	0	0	2	2	2	2	2	2	2	2	2	5	2	2	1	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:81219137G>A	ENST00000525539.1	-	0	1956				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACACGTAGAGGCACTGCTCT	0.622																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1957-1959)Ctc>Ttc		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							35	43	40					16																	81219137		2073	4223	6296			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81219137G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81219137G>A						PKD1L2_uc002fgj.3_Missense_Mutation_p.L653F	p.L653F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			10	1957	-			653			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1957C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.251156|2.251156	0.39797|0.39797	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.70986|.	-0.53|.	4.38|4.38	3.35|3.35	0.38373|0.38373	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.366405|.	0.24580|.	N|.	0.037316|.	T|T	0.41811|0.41811	0.1175|0.1175	.|.	.|.	.|.	0.24869|0.24869	N|N	0.99229|0.99229	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.77557|.	0.99;0.959|.	T|T	0.26189|0.26189	-1.0110|-1.0110	9|4	0.87932|.	D|.	0|.	-18.5931|-18.5931	12.8483|12.8483	0.57842|0.57842	0.0:0.1631:0.8368:0.0|0.0:0.1631:0.8368:0.0	.|.	653;653|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	F|L	653|180	ENSP00000337397:L653F|.	ENSP00000337397:L653F|.	L|P	-|-	1|2	0|0	PKD1L2|PKD1L2	79776638|79776638	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.034000|0.034000	0.12701|0.12701	1.128000|1.128000	0.31369|0.31369	2.159000|2.159000	0.67721|0.67721	0.551000|0.551000	0.68910|0.68910	CTC|CCT		0.622	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81219137	G	A	81219137	1	1	201	0	1	0	0	0	0	0	0	0	11965	1000	35	3		3	PKD1L2	16	81219137	RNA	SNP	G	TCGA-28-2499-01A-01D-1494-08	70430854	81219137	9135616	28	14146											
SLC13A2	9058	broad.mit.edu	37	chr17	26822743	26822743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgccagctccagccattgCcatcatcctctccctcctgg	5	11	7	18	0	2	0	1	0	1	0	6	0	5	0	7	1	4	1	7	1	0	1			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:26822743C>T	ENST00000314669.5	+	10	1799	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	SLC13A2_ENST00000537681.1_Missense_Mutation_p.A389V|SLC13A2_ENST00000444914.3_Missense_Mutation_p.A509V|SLC13A2_ENST00000545060.1_Missense_Mutation_p.A417V	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	460					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGCCATTGCCATCATCCTC	0.607																																						uc010wan.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1525-1527)gCc>gTc		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	Succinic acid(DB00139)						157	124	135					17																	26822743		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26822743C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1379C>T	17.37:g.26822743C>T	ENSP00000316202:p.Ala460Val					SLC13A2_uc010wam.2_Missense_Mutation_p.A416V|SLC13A2_uc002hbh.3_Missense_Mutation_p.A460V|SLC13A2_uc010wao.2_Missense_Mutation_p.A417V|SLC13A2_uc002hbi.3_Missense_Mutation_p.A389V	p.A509V	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	9	1593	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		460					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.1526C>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585151	0.03827	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.02837	4.14;4.14;4.14;4.14	5.19	-0.516	0.11950	.	0.204791	0.52532	N	0.000080	T	0.01558	0.0050	N	0.11698	0.16	0.09310	N	0.999992	B;B;B;B	0.22480	0.07;0.001;0.01;0.002	B;B;B;B	0.31751	0.135;0.023;0.041;0.03	T	0.48258	-0.9051	10	0.02654	T	1	-12.2661	7.2739	0.26273	0.0:0.576:0.1057:0.3183	.	417;509;389;460	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	V	460;509;417;389	ENSP00000316202:A460V;ENSP00000392411:A509V;ENSP00000441935:A417V;ENSP00000440802:A389V	ENSP00000316202:A460V	A	+	2	0	SLC13A2	23846870	0.101000	0.21875	0.000000	0.03702	0.000000	0.00434	0.698000	0.25571	-0.311000	0.08754	-2.047000	0.00414	GCC		0.607	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		T	26822743	C	T	26822743	3	4	201	1	0	0	0	0	1	0	0	0	14392	739	26	3	1564	3	SLC13A2	17	26822743	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		26822743	54372467	29	14147											
GPS1	2873	broad.mit.edu	37	chr17	80011213	80011213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcagaatgcacctgacGtcaactacgtggtggagaac	12	6	11	12	3	1	3	1	1	0	2	1	4	1	3	2	2	4	2	2	2	4	1	rs146475501		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:80011213G>A	ENST00000306823.6	+	2	120	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.V73I|GPS1_ENST00000355130.2_Missense_Mutation_p.V73I|GPS1_ENST00000320548.4_Missense_Mutation_p.V17I|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000578552.1_Missense_Mutation_p.V33I|RFNG_ENST00000429557.3_5'Flank			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	33					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCACCTGACGTCAACTACGT	0.667																																						uc002kdk.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(217-219)Gtc>Atc		Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.							87	78	81					17																	80011213		2202	4300	6502	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80011213G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.97G>A	17.37:g.80011213G>A	ENSP00000302873:p.Val33Ile					RFNG_uc002kdh.3_5'Flank|RFNG_uc021ufl.1_5'Flank|RFNG_uc002kdj.3_5'Flank|GPS1_uc002kdl.1_Missense_Mutation_p.V33I|GPS1_uc010dij.1_Missense_Mutation_p.V73I|GPS1_uc002kdm.1_Missense_Mutation_p.V17I|GPS1_uc002kdn.1_Missense_Mutation_p.V33I|GPS1_uc010wvh.1_Missense_Mutation_p.V25I	p.V73I	NM_212492	NP_997657	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		1	637	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		33					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.217G>A	CCDS32774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.648119|1.648119	0.29336|0.29336	.|.	.|.	ENSG00000169727|ENSG00000169727	ENST00000320548|ENST00000392358;ENST00000306823;ENST00000355130	.|.	.|.	.|.	3.82|3.82	2.84|2.84	0.33178|0.33178	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24236	.|0.0587	L|L	0.40543|0.40543	1.245|1.245	0.25494|0.25494	N|N	0.987613|0.987613	.|B;B;B;B;B	.|0.34349	.|0.0;0.322;0.023;0.0;0.45	.|B;B;B;B;B	.|0.27500	.|0.0;0.037;0.031;0.0;0.08	.|T	.|0.08269	.|-1.0730	.|8	.|0.37606	.|T	.|0.19	.|.	6.4541|6.4541	0.21920|0.21920	0.2289:0.0:0.7711:0.0|0.2289:0.0:0.7711:0.0	.|.	.|25;73;33;33;73	.|B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.|.;.;.;CSN1_HUMAN;.	.|I	-1|73;33;73	.|.	.|ENSP00000302873:V33I	.|V	+|+	.|1	.|0	GPS1|GPS1	77604502|77604502	0.997000|0.997000	0.39634|0.39634	0.959000|0.959000	0.39883|0.39883	0.612000|0.612000	0.37316|0.37316	1.990000|1.990000	0.40717|0.40717	2.085000|2.085000	0.62840|0.62840	0.563000|0.563000	0.77884|0.77884	.|GTC		0.667	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		A	80011213	G	A	80011213	3	1	201	1	0	0	0	0	1	0	0	0	6732	1145	40	1	260	1	GPS1	17	80011213	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	53188470	80011213	1183997	30	14148											
TSPAN16	26526	broad.mit.edu	37	chr19	11408879	11408879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaggggcctctctgaCgaatgtcctcgggctgtcct	5	11	14	11	2	1	1	0	1	1	0	5	3	3	2	3	4	0	1	3	4	1	0			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:11408879C>T	ENST00000316737.1	+	2	281	c.131C>T	c.(130-132)aCg>aTg	p.T44M	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.T44M|TSPAN16_ENST00000590327.1_Missense_Mutation_p.T44M	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	44						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GCCTCTCTGACGAATGTCCTC	0.532																																						uc002mqv.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(130-132)aCg>aTg		Homo sapiens tetraspanin 16 (TSPAN16), mRNA.							171	142	152					19																	11408879		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11408879C>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"Tetraspanins"	30725	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 16"	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.131C>T	19.37:g.11408879C>T	ENSP00000319486:p.Thr44Met					TSPAN16_uc002mqu.1_Non-coding_Transcript	p.T44M	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			1	281	+			44					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.131C>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678174	0.29783	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.79554	-1.28;-1.28	3.57	1.43	0.22495	.	2.494330	0.02208	N	0.062877	D	0.85358	0.5678	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66870	-0.5814	10	0.48119	T	0.1	-11.3303	5.5632	0.17157	0.0:0.7464:0.0:0.2536	.	44	Q9UKR8	TSN16_HUMAN	M	44	ENSP00000319486:T44M;ENSP00000338759:T44M	ENSP00000319486:T44M	T	+	2	0	TSPAN16	11269879	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	-0.237000	0.08990	0.490000	0.27771	0.462000	0.41574	ACG		0.532	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		T	11408879	C	T	11408879	3	4	201	1	0	0	0	0	1	0	0	0	16637	536	19	1	137	1	TSPAN16	19	11408879	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		11408879	47720104	31	14149											
CALR	811	broad.mit.edu	37	chr19	13050871	13050871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcacacctaggtccCgacatctgtggccctggcac	6	10	9	16	1	3	0	1	0	2	0	4	1	4	0	3	3	1	2	3	3	1	2	rs371325705		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:13050871C>T	ENST00000316448.5	+	4	475	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	134	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ACCTAGGTCCCGACATCTGTG	0.502																																						uc002mvu.2																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(400-402)ccC>ccT		Homo sapiens calreticulin (CALR), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		1,4405		0,1,2202	96	79	85		402	-11.2	0.2	19		85	0,8600		0,0,4300	no	coding-synonymous	CALR	NM_004343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		134/418	13050871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13050871C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.402C>T	19.37:g.13050871C>T							p.P134P	NM_004343	NP_004334	P27797	CALR_HUMAN			3	482	+			134			N-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.402C>T	CCDS12288.1																																																																																				0.502	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		T	13050871	C	T	13050871	2	4	201	1	0	0	0	0	0	0	0	1	2592	639	23	2		2	CALR	19	13050871	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	1641992	13050871	46078112	32	14150											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586693	15586693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttaacagagatgccttgGggtccaaaagcgtaaaggtc	12	9	13	7	1	0	1	0	0	0	1	2	2	1	1	2	4	3	2	2	4	5	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:15586693G>A	ENST00000340880.4	-	2	1268	c.788C>T	c.(787-789)cCc>cTc	p.P263L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P263L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	263					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGATGCCTTGGGGTCCAAAAG	0.617																																						uc002nbg.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(787-789)cCc>cTc		Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.							34	35	35					19																	15586693		2203	4299	6502	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586693G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.788C>T	19.37:g.15586693G>A	ENSP00000345968:p.Pro263Leu					PGLYRP2_uc002nbf.4_Missense_Mutation_p.P263L	p.P263L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			1	921	-			263					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.788C>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015843	0.19355	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04706	3.58;3.57	5.31	3.02	0.34903	.	0.923709	0.09147	N	0.842167	T	0.12518	0.0304	L	0.49126	1.545	0.09310	N	1	D;B	0.58620	0.983;0.027	P;B	0.54590	0.756;0.02	T	0.25187	-1.0139	10	0.87932	D	0	-23.2054	11.9735	0.53078	0.0:0.0:0.6883:0.3117	.	263;263	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	263	ENSP00000345968:P263L;ENSP00000292609:P263L	ENSP00000292609:P263L	P	-	2	0	PGLYRP2	15447693	0.000000	0.05858	0.630000	0.29268	0.062000	0.15995	0.230000	0.17852	1.225000	0.43566	0.561000	0.74099	CCC		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15586693	G	A	15586693	3	1	201	1	0	0	0	0	1	0	0	0	11794	1232	43	3	958	3	PGLYRP2	19	15586693	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	2535822	15586693	43542290	33	14151											
ZNF337	26152	broad.mit.edu	37	chr20	25655873	25655873	+	Frame_Shift_Del	DEL	G	G	-																															tacactcctggcaaacaaaaGgcttctcctttgagtgtatc																										TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:25655873delG	ENST00000376436.1	-	4	2590	c.2051delC	c.(2050-2052)cctfs	p.P684fs	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.P652fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.P684fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAAACAAAAGGCTTCTCCTT	0.502																																						uc002wva.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2050-2052)cctfs		Homo sapiens zinc finger protein 337 (ZNF337), mRNA.							149	137	141					20																	25655873		2203	4300	6503	SO:0001589	frameshift_variant	26152							g.chr20:25655873delG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2051delC	20.37:g.25655873delG	ENSP00000365619:p.Pro684fs					ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvc.3_Frame_Shift_Del_p.P684fs	p.P684fs	NM_015655	NP_056470					3	2573	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.2051delC	CCDS13174.1																																																																																				0.502	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			-	25655873	G	-	25655873	7	5	201	1	0	1	0	1	0	0	0	0	17850	1000	35	0	208	0	ZNF337	20	25655873	Frame_Shift_Del	DEL	G	TCGA-28-2499-01A-01D-1494-08		25655873	37369647	34	14152											
PABPC1L	80336	broad.mit.edu	37	chr20	43559261	43559261	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcggaaggccatctTgaccaaccagtacatgcagc	13	5	12	11	1	1	2	0	1	1	1	1	4	1	4	3	3	5	2	3	3	3	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:43559261T>A	ENST00000217073.2	+	8	1133	c.1133T>A	c.(1132-1134)tTg>tAg	p.L378*	PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000255136.3_Nonsense_Mutation_p.L378*|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	378					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AAGGCCATCTTGACCAACCAG	0.627																																						uc010ggv.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1132-1134)tTg>tAg		Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.							198	188	191					20																	43559261		1568	3582	5150	SO:0001587	stop_gained	80336						nucleotide binding|RNA binding	g.chr20:43559261T>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1133T>A	20.37:g.43559261T>A	ENSP00000217073:p.Leu378*					PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	p.L378*	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			7	1215	+			378					Q4VY17	Nonsense_Mutation	SNP	ENST00000217073.2	37	c.1133T>A	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	T	38	6.939430	0.97948	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8419	0.78852	0.0:0.0:0.0:1.0	.	.	.	.	X	378	.	ENSP00000217073:L378X	L	+	2	0	PABPC1L	42992675	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	8.013000	0.88655	2.137000	0.66172	0.533000	0.62120	TTG		0.627	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			A	43559261	T	A	43559261	4	1	201	1	0	0	0	0	0	1	0	0	11364	1821	63	5	1163	5	PABPC1L	20	43559261	Nonsense_Mutation	SNP	T	TCGA-28-2499-01A-01D-1494-08	17903388	43559261	19466259	35	14153											
SCNN1D	6339	broad.mit.edu	37	chr1	1222931	1222931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctacggcagctgctacAcggtcgatggcgtctggaca	8	7	12	14	4	1	0	0	0	1	0	2	2	1	1	2	4	4	3	2	4	2	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:1222931A>G	ENST00000338555.2	+	7	2006	c.862A>G	c.(862-864)Acg>Gcg	p.T288A	SCNN1D_ENST00000400928.3_Missense_Mutation_p.T288A|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T354A|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T452A			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	288					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CAGCTGCTACACGGTCGATGG	0.677																																						uc001adt.1																			0				lung(6)|skin(1)	7						c.(1354-1356)Acg>Gcg		Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.							47	48	47					1																	1222931		2199	4295	6494	SO:0001583	missense	6339							g.chr1:1222931A>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.862A>G	1.37:g.1222931A>G	ENSP00000339504:p.Thr288Ala					SCNN1D_uc001adu.1_Missense_Mutation_p.T288A|SCNN1D_uc001adw.2_Missense_Mutation_p.T354A|SCNN1D_uc001adv.2_Missense_Mutation_p.T288A|SCNN1D_uc001adx.2_Silent_p.T51T	p.T452A	NM_001130413	NP_001123885				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	9	1580	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1354A>G		.	.	.	.	.	.	.	.	.	.	A	11.89	1.773548	0.31411	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928;ENST00000379099	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;0.85	3.13	1.98	0.26296	.	0.325881	0.24996	N	0.033944	T	0.79936	0.4532	M	0.86864	2.845	0.22142	N	0.999337	D;D	0.76494	0.997;0.999	D;D	0.74348	0.983;0.939	T	0.68667	-0.5348	10	0.72032	D	0.01	.	6.991	0.24755	0.8817:0.0:0.1183:0.0	.	288;452	P51172;A6NNF7	SCNND_HUMAN;.	A	319;452;288;354;288;79	ENSP00000368411:T452A;ENSP00000339504:T288A;ENSP00000321594:T354A;ENSP00000383717:T288A;ENSP00000368393:T79A	ENSP00000321594:T354A	T	+	1	0	SCNN1D	1212794	0.509000	0.26163	0.072000	0.20136	0.001000	0.01503	2.021000	0.41020	0.409000	0.25649	0.260000	0.18958	ACG		0.677	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		G	1222931	A	G	1222931	3	3	202	1	0	0	0	0	1	0	0	0	13929	159	6	4	1086	4	SCNN1D	1	1222931	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08		1222931	248027690	1	14154											
ACTL8	81569	broad.mit.edu	37	chr1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatgaacaagtgctacGtgccgcagaatctgggggag	11	7	14	9	2	2	3	1	1	1	2	2	4	2	4	1	2	4	2	1	2	4	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:18152553G>A	ENST00000375406.1	+	3	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	214					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(640-642)Gtg>Atg		Homo sapiens actin-like 8 (ACTL8), mRNA.							44	46	45					1																	18152553		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152553G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.640G>A	1.37:g.18152553G>A	ENSP00000364555:p.Val214Met		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.V214M	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	856	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	214					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.640G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484423	0.63962	.	.	ENSG00000117148	ENST00000375406	D	0.97352	-4.35	5.25	4.31	0.51392	.	0.000000	0.40728	N	0.001023	D	0.98639	0.9544	M	0.92691	3.335	0.37170	D	0.903023	D	0.89917	1.0	D	0.72625	0.978	D	0.99959	1.1683	10	0.87932	D	0	-47.031	13.6925	0.62556	0.0:0.1564:0.8436:0.0	.	214	Q9H568	ACTL8_HUMAN	M	214	ENSP00000364555:V214M	ENSP00000364555:V214M	V	+	1	0	ACTL8	18025140	1.000000	0.71417	0.969000	0.41365	0.267000	0.26476	6.869000	0.75521	1.287000	0.44583	0.655000	0.94253	GTG		0.567	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		A	18152553	G	A	18152553	3	1	202	1	0	0	0	0	1	0	0	0	202	1145	40	1	646	1	ACTL8	1	18152553	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	16929622	18152553	231098068	2	14155											
SCMH1	22955	broad.mit.edu	37	chr1	41514522	41514522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccttcttcttatctaaGtgggggcctgtgctgccatt	5	15	11	10	0	3	0	0	0	3	0	3	1	3	1	3	3	2	1	3	3	2	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:41514522G>A	ENST00000326197.7	-	10	1415	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	SCMH1_ENST00000397171.2_Silent_p.H311H|SCMH1_ENST00000372596.1_Silent_p.H311H|SCMH1_ENST00000361191.5_Silent_p.H311H|SCMH1_ENST00000337495.5_Silent_p.H382H|SCMH1_ENST00000402904.2_Silent_p.H372H|SCMH1_ENST00000397174.2_Silent_p.H352H|SCMH1_ENST00000372597.1_Silent_p.H325H|SCMH1_ENST00000361705.3_Silent_p.H325H|SCMH1_ENST00000372595.1_Silent_p.H311H|SCMH1_ENST00000456518.2_Silent_p.H214H					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TCTTATCTAAGTGGGGGCCTG	0.493																																						uc001cgo.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1114-1116)caC>caT		Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.							116	117	117					1																	41514522		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514522G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1116C>T	1.37:g.41514522G>A						SCMH1_uc010ojr.2_Silent_p.H214H|SCMH1_uc001cgp.3_Silent_p.H311H|SCMH1_uc001cgr.3_Silent_p.H311H|SCMH1_uc001cgq.3_Silent_p.H325H|SCMH1_uc001cgs.3_Silent_p.H382H|SCMH1_uc001cgt.3_Silent_p.H311H|SCMH1_uc010ojs.1_Non-coding_Transcript	p.H372H	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN			10	1485	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	372						Silent	SNP	ENST00000326197.7	37	c.1116C>T	CCDS30688.1																																																																																				0.493	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			A	41514522	G	A	41514522	2	1	202	1	0	0	0	0	0	0	0	1	13908	1020	36	3		3	SCMH1	1	41514522	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	23361969	41514522	207736099	3	14156											
CPT2	1376	broad.mit.edu	37	chr1	53666396	53666396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttctccccaggctgcCtattcccaaacttgaagaca	9	11	6	15	0	1	2	0	1	1	1	3	2	2	2	4	1	3	2	4	1	3	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:53666396C>T	ENST00000371486.3	+	2	673	c.158C>T	c.(157-159)cCt>cTt	p.P53L	CPT2_ENST00000468572.1_3'UTR	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	53					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCCAGGCTGCCTATTCCCAAA	0.433																																						uc001cvb.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(157-159)cCt>cTt		Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)						133	128	130					1																	53666396		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53666396C>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.158C>T	1.37:g.53666396C>T	ENSP00000360541:p.Pro53Leu						p.P53L	NM_000098	NP_000089	P23786	CPT2_HUMAN			1	673	+			53					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.158C>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211641	0.95069	.	.	ENSG00000157184	ENST00000371486	D	0.98862	-5.19	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98264	1.0500	10	0.87932	D	0	-3.9917	19.905	0.97004	0.0:1.0:0.0:0.0	.	53	P23786	CPT2_HUMAN	L	53	ENSP00000360541:P53L	ENSP00000360541:P53L	P	+	2	0	CPT2	53438984	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.879000	0.75572	2.804000	0.96469	0.462000	0.41574	CCT		0.433	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		T	53666396	C	T	53666396	3	4	202	1	0	0	0	0	1	0	0	0	3834	681	24	3	164	3	CPT2	1	53666396	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	12151874	53666396	195584225	4	14157											
PKLR	5313	broad.mit.edu	37	chr1	155264053	155264053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagacaacaggcttgccCgccaagttgcagcgcccaat	11	5	10	15	2	0	1	0	0	0	1	0	1	0	1	3	1	4	4	3	1	3	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:155264053C>T	ENST00000342741.4	-	7	1127	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	PKLR_ENST00000392414.3_Silent_p.A332A	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	363					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGGCTTGCCCGCCAAGTTGC	0.577																																						uc001fkb.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1087-1089)gcG>gcA		Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Pyruvic acid(DB00119)						90	85	87					1																	155264053		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264053C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1089G>A	1.37:g.155264053C>T						PKLR_uc001fka.4_Silent_p.A332A	p.A363A	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	1128	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		363					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.1089G>A	CCDS1109.1																																																																																				0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		T	155264053	C	T	155264053	2	4	202	1	0	0	0	0	0	0	0	1	11976	639	23	2		2	PKLR	1	155264053	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	101597657	155264053	93986568	5	14158											
MPZL1	9019	broad.mit.edu	37	chr1	167757139	167757139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagagtctgtggtgtatgCggatatccgaaagaattaag	12	11	13	5	2	2	2	1	0	1	2	3	4	3	3	1	2	1	1	1	2	5	3	rs375874838		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:167757139C>T	ENST00000359523.2	+	6	993	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MPZL1_ENST00000392121.3_Missense_Mutation_p.A114V|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	264					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GTGGTGTATGCGGATATCCGA	0.448																																						uc001geo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(790-792)gCg>gTg		Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.		C	VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	96	89	92		341,791,	4.6	0.1	1		92	0,8600		0,0,4300	no	missense,missense,utr-3	MPZL1	NM_001146191.1,NM_003953.5,NM_024569.4	64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	114/120,264/270,	167757139	1,13005	2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167757139C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.791C>T	1.37:g.167757139C>T	ENSP00000352513:p.Ala264Val					MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Missense_Mutation_p.A114V|MPZL1_uc009wvh.3_Non-coding_Transcript	p.A264V	NM_003953	NP_003944	O95297	MPZL1_HUMAN			5	993	+	all_hematologic(923;0.215)		264					B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.791C>T	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273622	0.80580	2.27E-4	0.0	ENSG00000197965	ENST00000359523;ENST00000392121	D;D	0.99637	-4.65;-6.29	4.58	4.58	0.56647	.	.	.	.	.	D	0.99196	0.9721	L	0.32530	0.975	0.47778	D	0.999516	D;D	0.89917	1.0;1.0	D;D	0.78314	0.974;0.991	D	0.99541	1.0963	8	0.87932	D	0	.	16.5301	0.84355	0.0:1.0:0.0:0.0	.	114;264	B2REC0;O95297	.;MPZL1_HUMAN	V	264;114	ENSP00000352513:A264V;ENSP00000375968:A114V	ENSP00000352513:A264V	A	+	2	0	MPZL1	166023763	0.994000	0.37717	0.059000	0.19551	0.772000	0.43724	3.449000	0.52950	2.505000	0.84491	0.650000	0.86243	GCG		0.448	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		T	167757139	C	T	167757139	3	4	202	1	0	0	0	0	1	0	0	0	9749	768	27	1	813	1	MPZL1	1	167757139	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	12493086	167757139	81493482	6	14159											
HMCN1	83872	broad.mit.edu	37	chr1	185956672	185956672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaaccgtctgtcatctggtCcaaggtaaatgatacatcta	13	11	7	10	1	4	1	1	1	3	0	5	1	5	1	2	2	2	1	2	2	6	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:185956672C>G	ENST00000271588.4	+	20	3273	c.3044C>G	c.(3043-3045)tCc>tGc	p.S1015C	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1015C|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1015	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCATCTGGTCCAAGGTAAAT	0.458																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3043-3045)tCc>tGc		Homo sapiens hemicentin 1 (HMCN1), mRNA.							139	143	142					1																	185956672		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185956672C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3044C>G	1.37:g.185956672C>G	ENSP00000271588:p.Ser1015Cys					HMCN1_uc001grr.1_Missense_Mutation_p.S356C	p.S1015C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			19	3273	+			1015			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3044C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721284	0.68959	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39997	1.05;1.05	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.339328	0.31323	N	0.007855	T	0.63570	0.2522	M	0.81239	2.535	0.44168	D	0.996974	D;D	0.71674	0.996;0.998	D;D	0.65987	0.94;0.935	T	0.64664	-0.6354	10	0.41790	T	0.15	.	13.9317	0.64001	0.1519:0.8481:0.0:0.0	.	399;1015	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	C	1015	ENSP00000271588:S1015C;ENSP00000356462:S1015C	ENSP00000271588:S1015C	S	+	2	0	HMCN1	184223295	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.288000	0.59007	2.501000	0.84356	0.655000	0.94253	TCC		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	185956672	C	G	185956672	3	3	202	1	0	0	0	0	1	0	0	0	7220	855	30	5	3122	5	HMCN1	1	185956672	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	18199533	185956672	63293949	7	14160											
RBBP5	5929	broad.mit.edu	37	chr1	205065884	205065884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctgggacccatctgctGaggactgcctcttcttctct	4	13	11	13	0	4	1	0	1	4	0	5	3	4	3	2	3	2	2	2	3	0	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:205065884G>A	ENST00000264515.6	-	12	1463	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	RBBP5_ENST00000367164.1_Missense_Mutation_p.S441L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	441					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCTGCTGAGGACTGCCT	0.493																																						uc010prd.2																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1426-1428)tCa>tTa		Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.							191	190	190					1																	205065884		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065884G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1322C>T	1.37:g.205065884G>A	ENSP00000264515:p.Ser441Leu					RBBP5_uc010pre.2_Missense_Mutation_p.S314L|RBBP5_uc001hbu.2_Missense_Mutation_p.S441L|RBBP5_uc001hbv.2_Missense_Mutation_p.S441L	p.S476L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1708	-	Breast(84;0.0505)		441					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.1427C>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823134	0.50739	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60299	0.2;0.21	5.77	5.77	0.91146	.	0.057993	0.64402	D	0.000001	T	0.47619	0.1455	L	0.38175	1.15	0.53688	D	0.999977	B;B;B;B	0.20887	0.049;0.0;0.002;0.007	B;B;B;B	0.18263	0.021;0.001;0.005;0.005	T	0.34279	-0.9835	10	0.29301	T	0.29	.	13.8459	0.63468	0.0734:0.0:0.9266:0.0	.	314;476;441;441	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	L	441	ENSP00000264515:S441L;ENSP00000356132:S441L	ENSP00000264515:S441L	S	-	2	0	RBBP5	203332507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.998000	0.63927	2.727000	0.93392	0.655000	0.94253	TCA		0.493	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		A	205065884	G	A	205065884	3	1	202	1	0	0	0	0	1	0	0	0	13102	1294	45	3	306	3	RBBP5	1	205065884	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	19109212	205065884	44184737	8	14161											
KCNK1	3775	broad.mit.edu	37	chr1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcatcatctactccGtcattggcattcccttcacc	6	14	4	17	1	5	0	3	0	2	0	7	0	7	0	4	1	2	2	4	1	1	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:233802400G>A	ENST00000366621.3	+	2	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V23I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	139					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582																																						uc010pxo.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(415-417)Gtc>Atc		Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	Ibutilide(DB00308)|Quinidine(DB00908)						212	145	167					1																	233802400		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802400G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.415G>A	1.37:g.233802400G>A	ENSP00000355580:p.Val139Ile						p.V139I	NM_002245	NP_002236	O00180	KCNK1_HUMAN			1	583	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	139					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.415G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974651	0.53720	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.30714	1.97;1.52;1.52	5.91	4.05	0.47172	Ion transport 2 (1);	0.221641	0.46442	N	0.000293	T	0.12561	0.0305	N	0.04636	-0.2	0.50171	D	0.999855	B	0.33000	0.393	B	0.24006	0.05	T	0.11817	-1.0572	10	0.35671	T	0.21	.	9.6445	0.39859	0.2091:0.0:0.7909:0.0	.	139	O00180	KCNK1_HUMAN	I	139;23;57	ENSP00000355580:V139I;ENSP00000355579:V23I;ENSP00000409626:V57I	ENSP00000355579:V23I	V	+	1	0	KCNK1	231869023	1.000000	0.71417	0.713000	0.30519	0.846000	0.48090	4.768000	0.62293	0.842000	0.35045	0.655000	0.94253	GTC		0.582	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		A	233802400	G	A	233802400	3	1	202	1	0	0	0	0	1	0	0	0	8058	1145	40	1	421	1	KCNK1	1	233802400	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	28736516	233802400	15448221	9	14162											
RYR2	6262	broad.mit.edu	37	chr1	237947838	237947838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtaaaaaagatgaccGtgaaggacatggtcacggcc	18	5	11	7	2	1	3	1	2	0	1	1	4	1	4	2	3	0	1	2	3	6	1	rs368599791		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:237947838G>A	ENST00000366574.2	+	90	13143	c.12826G>A	c.(12826-12828)Gtg>Atg	p.V4276M	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282M|RYR2_ENST00000542537.1_Missense_Mutation_p.V4260M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4276					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4274L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGATGACCGTGAAGGACAT	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		19077	0		0	False		,,,				2504	0					uc001hyl.1																			1	Substitution - Missense(1)	p.V4274L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12826-12828)Gtg>Atg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.		G	MET/VAL	0,3756		0,0,1878	67	67	67		12826	-6.6	0	1		67	1,8247		0,1,4123	no	missense	RYR2	NM_001035.2	21	0,1,6001	AA,AG,GG		0.0121,0.0,0.0083	benign	4276/4968	237947838	1,12003	1878	4124	6002	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947838G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12826G>A	1.37:g.237947838G>A	ENSP00000355533:p.Val4276Met					RYR2_uc010pya.2_Missense_Mutation_p.V691M	p.V4276M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12946	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4276					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12826G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401334	0.11696	0.0	1.21E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96856	-4.15;-4.12;-4.14	5.11	-6.59	0.01830	.	0.693333	0.12852	N	0.433874	D	0.90024	0.6885	N	0.21282	0.65	0.52501	D	0.999958	B;B	0.21520	0.057;0.011	B;B	0.17979	0.02;0.003	T	0.64702	-0.6345	10	0.32370	T	0.25	.	13.0341	0.58860	0.7322:0.0:0.1755:0.0923	.	1250;4276	B4DGV4;Q92736	.;RYR2_HUMAN	M	4276;4282;4260;1250	ENSP00000355533:V4276M;ENSP00000353174:V4282M;ENSP00000443798:V4260M	ENSP00000353174:V4282M	V	+	1	0	RYR2	236014461	0.000000	0.05858	0.001000	0.08648	0.685000	0.39939	-0.114000	0.10757	-1.482000	0.01860	-0.794000	0.03295	GTG		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237947838	G	A	237947838	3	1	202	1	0	0	0	0	1	0	0	0	13769	1145	40	1	13184	1	RYR2	1	237947838	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	4145438	237947838	11302783	10	14163											
NLRP3	114548	broad.mit.edu	37	chr1	247587842	247587842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgctggaccatcctcGgcatgtggagatcctgggtt	6	11	13	11	1	0	1	0	0	0	1	3	3	2	2	3	4	1	4	3	4	0	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:247587842G>A	ENST00000336119.3	+	3	1843	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	NLRP3_ENST00000348069.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000366497.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000391828.3_Missense_Mutation_p.R366Q	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	366	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACCATCCTCGGCATGTGGAG	0.547																																						uc001icr.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1096-1098)cGg>cAg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							60	63	62					1																	247587842		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587842G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1097G>A	1.37:g.247587842G>A	ENSP00000337383:p.Arg366Gln					NLRP3_uc001ics.3_Missense_Mutation_p.R366Q|NLRP3_uc001icu.3_Missense_Mutation_p.R366Q|NLRP3_uc001icw.3_Missense_Mutation_p.R366Q|NLRP3_uc001icv.3_Missense_Mutation_p.R366Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R364Q|NLRP3_uc001ict.1_Missense_Mutation_p.R364Q	p.R366Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1235	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	366			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1097G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.704790	0.48412	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.51477	D	0.000088	D	0.84529	0.5492	M	0.68952	2.095	0.09310	N	1	D;D;D;P;P	0.89917	0.981;0.977;1.0;0.939;0.9	P;P;D;P;P	0.80764	0.824;0.727;0.994;0.723;0.67	T	0.74405	-0.3676	10	0.40728	T	0.16	.	11.5521	0.50726	0.0:0.0:1.0:0.0	.	366;366;366;366;366	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Q	366	ENSP00000375704:R366Q;ENSP00000355453:R366Q;ENSP00000337383:R366Q;ENSP00000294752:R366Q;ENSP00000355452:R366Q;ENSP00000375703:R366Q	ENSP00000337383:R366Q	R	+	2	0	NLRP3	245654465	0.000000	0.05858	0.102000	0.21198	0.486000	0.33341	0.498000	0.22530	2.436000	0.82500	0.563000	0.77884	CGG		0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587842	G	A	247587842	3	1	202	1	0	0	0	0	1	0	0	0	10478	1116	39	2	1107	2	NLRP3	1	247587842	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	9640004	247587842	1662779	11	14164											
SLC5A7	60482	broad.mit.edu	37	chr2	108604723	108604723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtggcagcgcagaagagCgcagcgaagccatcatagtt	13	5	13	10	3	1	2	1	0	0	2	1	3	1	2	1	1	4	4	1	1	3	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:108604723C>T	ENST00000264047.2	+	2	388	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.R38C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	38					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.R38G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGCAGAAGAGCGCAGCGAAGC	0.502																																						uc002tdv.3																			1	Substitution - Missense(1)	p.R38G(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(112-114)Cgc>Tgc		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						149	131	137					2																	108604723		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604723C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.112C>T	2.37:g.108604723C>T	ENSP00000264047:p.Arg38Cys					SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.R38C|SLC5A7_uc010ywn.2_Intron	p.R38C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			1	388	+			38					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.112C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795804	0.90453	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.91124	-2.79;-2.79	5.76	5.76	0.90799	.	0.103999	0.64402	D	0.000002	D	0.91324	0.7264	M	0.65975	2.015	0.80722	D	1	D	0.56746	0.977	P	0.44860	0.462	D	0.91597	0.5292	10	0.56958	D	0.05	-0.3632	20.3242	0.98691	0.0:1.0:0.0:0.0	.	38	Q9GZV3	SC5A7_HUMAN	C	38	ENSP00000387346:R38C;ENSP00000264047:R38C	ENSP00000264047:R38C	R	+	1	0	SLC5A7	107971155	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	CGC		0.502	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			T	108604723	C	T	108604723	3	4	202	1	0	0	0	0	1	0	0	0	14670	768	27	1	114	1	SLC5A7	2	108604723	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		108604723	134594650	12	14165											
MYO7B	4648	broad.mit.edu	37	chr2	128366343	128366343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctctccctgccaagaagCgcagatccatctacgacacc	10	6	8	17	3	2	2	0	0	2	2	4	3	3	2	4	0	3	2	4	0	3	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:128366343C>T	ENST00000409816.2	+	21	2736	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C	MYO7B_ENST00000389524.4_Missense_Mutation_p.R902C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R902C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	902						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCAAGAAGCGCAGATCCAT	0.652																																						uc002top.3																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2704-2706)Cgc>Tgc		Homo sapiens myosin VIIB (MYO7B), mRNA.							38	46	44					2																	128366343		2109	4212	6321	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366343C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2704C>T	2.37:g.128366343C>T	ENSP00000386461:p.Arg902Cys						p.R902C	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	21	2757	+	Colorectal(110;0.1)		902					Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2704C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508986	0.64410	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88586	-2.39;-2.4;-2.4	5.34	4.46	0.54185	.	0.155439	0.38436	N	0.001692	D	0.91324	0.7264	M	0.71581	2.175	0.43508	D	0.995763	D	0.89917	1.0	P	0.54706	0.759	D	0.91532	0.5243	10	0.66056	D	0.02	.	11.9651	0.53029	0.0:0.9183:0.0:0.0817	.	902	Q6PIF6	MYO7B_HUMAN	C	902	ENSP00000374175:R902C;ENSP00000415090:R902C;ENSP00000386461:R902C	ENSP00000374175:R902C	R	+	1	0	MYO7B	128082813	0.928000	0.31464	0.950000	0.38849	0.417000	0.31264	1.557000	0.36299	1.248000	0.43934	0.462000	0.41574	CGC		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		T	128366343	C	T	128366343	3	4	202	1	0	0	0	0	1	0	0	0	10083	768	27	1	2786	1	MYO7B	2	128366343	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	19761620	128366343	114833030	13	14166											
POTEE	445582	broad.mit.edu	37	chr2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcagggacactgacGtgaacaagaaggacaagcaa	16	5	11	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	5	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:131976471G>A	ENST00000356920.5	+	1	590	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	POTEE_ENST00000358087.5_Missense_Mutation_p.V166M|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	166					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGACACTGACGTGAACAAGAA	0.592																																						uc002tsn.2																			0											c.(496-498)Gtg>Atg		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							142	144	144					2																	131976471		2202	4299	6501	SO:0001583	missense	445582						ATP binding	g.chr2:131976471G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.496G>A	2.37:g.131976471G>A	ENSP00000439189:p.Val166Met					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.V166M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	548	+			166					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.496G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.887	0.533134	0.13188	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.69040	-0.37;0.4	1.05	-2.11	0.07187	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60130	0.2245	M	0.82323	2.585	0.09310	N	1	D	0.64830	0.994	P	0.45946	0.498	T	0.55256	-0.8169	9	0.10111	T	0.7	.	0.4843	0.00553	0.2242:0.3331:0.2329:0.2098	.	166	Q6S8J3	POTEE_HUMAN	M	166	ENSP00000439189:V166M;ENSP00000443049:V166M	ENSP00000439189:V166M	V	+	1	0	AC131180.1	131692941	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-1.874000	0.01636	-1.957000	0.01021	0.162000	0.16502	GTG		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	131976471	G	A	131976471	3	1	202	1	0	0	0	0	1	0	0	0	12264	1145	40	1	498	1	POTEE	2	131976471	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	3610128	131976471	111222902	14	14167											
TTN	7273	broad.mit.edu	37	chr2	179542438	179542438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaggtacatattcttcttCgggaggaacttcctcttcct	7	15	7	12	1	4	0	1	0	3	0	7	2	6	2	2	3	2	1	2	3	3	7			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179542438C>T	ENST00000591111.1	-	144	33474	c.33250G>A	c.(33250-33252)Gaa>Aaa	p.E11084K	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10157K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11401K			Q8WZ42	TITIN_HUMAN	titin	10214	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCTTCTTCGGGAGGAACT	0.453																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30469-30471)Gaa>Aaa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							95	93	94					2																	179542438		1852	4081	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542438C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33250G>A	2.37:g.179542438C>T	ENSP00000465570:p.Glu11084Lys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6818K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.E10157K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30694	-			11084			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30469G>A		.	.	.	.	.	.	.	.	.	.	C	13.90	2.373562	0.42105	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	3.53	3.53	0.40419	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57359	0.2048	.	.	.	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.63541	-0.6614	8	0.87932	D	0	.	8.6414	0.33978	0.2278:0.7722:0.0:0.0	.	11084	Q8WZ42	TITIN_HUMAN	K	10157	ENSP00000343764:E10157K	ENSP00000343764:E10157K	E	-	1	0	TTN	179250683	0.860000	0.29831	0.938000	0.37757	0.953000	0.61014	1.881000	0.39638	1.684000	0.51022	0.609000	0.83330	GAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179542438	C	T	179542438	3	4	202	1	0	0	0	0	1	0	0	0	16732	893	31	2	70196	2	TTN	2	179542438	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	47565967	179542438	63656935	15	14168											
TTN	7273	broad.mit.edu	37	chr2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggttctgacgtccaCgacgagatgtaattgtatat	10	12	11	8	4	1	3	0	2	1	1	2	5	2	3	2	1	0	3	2	1	3	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179639038C>T	ENST00000591111.1	-	30	7177	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2318H			Q8WZ42	TITIN_HUMAN	titin	12640	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCCACGACGAGATGT	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6952-6954)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							176	161	166					2																	179639038		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639038C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6953G>A	2.37:g.179639038C>T	ENSP00000465570:p.Arg2318His					TTN_uc021vsz.1_Missense_Mutation_p.R2272H|TTN_uc021vta.1_Missense_Mutation_p.R2272H|TTN_uc021vtb.1_Missense_Mutation_p.R2272H|TTN_uc002unb.2_Missense_Mutation_p.R2318H|AK123298_uc002unc.1_5'Flank	p.R2318H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	7178	-			2318			Ig-like 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6953G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.065125	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56171	0.1967	L	0.29908	0.895	0.39107	D	0.961397	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.60885	-0.7174	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2272;2272;2272;2318;2318	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2318;2272;2272;2272;2272;2318	ENSP00000343764:R2318H;ENSP00000434586:R2272H;ENSP00000340554:R2272H;ENSP00000352154:R2272H;ENSP00000354117:R2318H	ENSP00000340554:R2272H	R	-	2	0	TTN	179347283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	CGT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179639038	C	T	179639038	3	4	202	1	0	0	0	0	1	0	0	0	16732	536	19	1	104367	1	TTN	2	179639038	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	96600	179639038	63560335	16	14169											
DOCK10	55619	broad.mit.edu	37	chr2	225670162	225670162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctcactgctcttctcaTtggtacttggattggagtca	6	17	8	10	0	5	0	3	0	4	0	7	2	5	2	0	3	2	2	0	3	1	6			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:225670162T>C	ENST00000258390.7	-	35	3966	c.3899A>G	c.(3898-3900)aAt>aGt	p.N1300S	DOCK10_ENST00000409592.3_Missense_Mutation_p.N1294S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1300					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTCTTCTCATTGGTACTTGG	0.423																																						uc010fwz.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3898-3900)aAt>aGt		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							167	161	163					2																	225670162		2092	4221	6313	SO:0001583	missense	55619						GTP binding	g.chr2:225670162T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3899A>G	2.37:g.225670162T>C	ENSP00000258390:p.Asn1300Ser					DOCK10_uc002vob.2_Missense_Mutation_p.N1294S|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.N154S	p.N1300S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	34	4138	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1300					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3899A>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.695|5.695	0.312866|0.312866	0.10789|0.10789	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.17691	.|2.26;2.26	5.74|5.74	-4.91|-4.91	0.03085|0.03085	.|.	.|0.463048	.|0.26784	.|N	.|0.022508	T|T	0.04588|0.04588	0.0125|0.0125	N|N	0.02674|0.02674	-0.535|-0.535	0.22684|0.22684	N|N	0.998857|0.998857	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.001	T|T	0.34229|0.34229	-0.9837|-0.9837	5|10	.|0.02654	.|T	.|1	.|.	14.3987|14.3987	0.67027|0.67027	0.0:0.0589:0.6544:0.2867|0.0:0.0589:0.6544:0.2867	.|.	.|1300;154;1294	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	V|S	182|1294;1300	.|ENSP00000386694:N1294S;ENSP00000258390:N1300S	.|ENSP00000258390:N1300S	M|N	-|-	1|2	0|0	DOCK10|DOCK10	225378406|225378406	0.989000|0.989000	0.36119|0.36119	0.081000|0.081000	0.20488|0.20488	0.993000|0.993000	0.82548|0.82548	0.542000|0.542000	0.23222|0.23222	-0.731000|-0.731000	0.04862|0.04862	0.459000|0.459000	0.35465|0.35465	ATG|AAT		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225670162	T	C	225670162	3	2	202	1	0	0	0	0	1	0	0	0	4685	1493	52	4	2749	4	DOCK10	2	225670162	Missense_Mutation	SNP	T	TCGA-28-2501-01A-01D-1696-08	46031124	225670162	17529211	17	14170											
UBA7	7318	broad.mit.edu	37	chr3	49849871	49849871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatagaccggggatcacagtCgttgagctcaaccattccct	10	9	10	12	2	2	2	2	1	0	1	4	4	3	3	3	2	2	2	3	2	2	3	rs201219751		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:49849871C>T	ENST00000333486.3	-	6	822	c.664G>A	c.(664-666)Gac>Aac	p.D222N	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	222	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCACAGTCGTTGAGCTCA	0.567																																						uc003cxr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(664-666)Gac>Aac		Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.							85	81	82					3																	49849871		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49849871C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.664G>A	3.37:g.49849871C>T	ENSP00000333266:p.Asp222Asn						p.D222N	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	5	835	-			222			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.664G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369654	0.42003	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.44	3.61	0.41365	Molybdenum cofactor biosynthesis, MoeB (1);	0.366291	0.34002	N	0.004357	T	0.35566	0.0936	N	0.25957	0.775	0.24205	N	0.995494	B	0.18310	0.027	B	0.10450	0.005	T	0.17715	-1.0360	10	0.32370	T	0.25	-1.2315	8.0776	0.30726	0.0:0.7163:0.1324:0.1514	.	222	P41226	UBA7_HUMAN	N	222	ENSP00000333266:D222N	ENSP00000333266:D222N	D	-	1	0	UBA7	49824875	0.000000	0.05858	0.042000	0.18584	0.022000	0.10575	0.233000	0.17911	0.741000	0.32674	0.561000	0.74099	GAC		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49849871	C	T	49849871	3	4	202	1	0	0	0	0	1	0	0	0	16830	884	31	2	2450	2	UBA7	3	49849871	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		49849871	148172559	18	14171											
EPHB1	2047	broad.mit.edu	37	chr3	134851749	134851749	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtgcccaggcagctgggCctgacggagtgccgcgtctc	4	9	15	13	3	1	1	0	1	1	0	2	2	1	2	3	3	3	2	3	3	0	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:134851749C>A	ENST00000398015.3	+	5	1525	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	EPHB1_ENST00000493838.1_De_novo_Start_InFrame	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGCTGGGCCTGACGGAGT	0.597																																						uc003eqt.3																			0		p.G385V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1153-1155)ggC>ggA		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							42	48	46					3																	134851749		2198	4295	6493	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851749C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1155C>A	3.37:g.134851749C>A						EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	p.G385G	NM_004441	NP_004432	P54762	EPHB1_HUMAN			4	1530	+			385			Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1155C>A	CCDS46921.1																																																																																				0.597	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134851749	C	A	134851749	2	1	202	1	0	0	0	0	0	0	0	1	5174	726	26	5		5	EPHB1	3	134851749	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	85001878	134851749	63170681	19	14172											
HTR3E	285242	broad.mit.edu	37	chr3	183824082	183824082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgctgtcccactgcGccccagaaggaaaataaggg	12	5	14	10	1	0	2	0	0	0	2	1	4	1	3	3	3	2	1	3	3	4	1	rs374233648		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:183824082G>A	ENST00000415389.2	+	8	1558	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	HTR3E_ENST00000440596.2_Silent_p.A390A|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Silent_p.A364A|HTR3E_ENST00000335304.2_Silent_p.A379A|HTR3E_ENST00000425359.2_Silent_p.A349A	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	364					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.A379A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GTCCCACTGCGCCCCAGAAGG	0.667																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			1	Substitution - coding silent(1)	p.A379A(1)|p.T390N(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1168-1170)gcG>gcA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	29	33	31		1137	-6.4	0	3		31	0,8600		0,0,4300	no	coding-synonymous	HTR3E	NM_182589.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		379/472	183824082	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824082G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1092G>A	3.37:g.183824082G>A						HTR3E_uc010hxq.3_Silent_p.A364A|HTR3E_uc003fml.4_Silent_p.A349A|HTR3E_uc003fmm.3_Silent_p.A379A|HTR3E_uc003fmn.3_Silent_p.A364A	p.A390A	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	1364	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		364					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	c.1170G>A	CCDS58868.1																																																																																				0.667	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		A	183824082	G	A	183824082	2	1	202	1	0	0	0	0	0	0	0	1	7448	1074	38	1		1	HTR3E	3	183824082	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	48972333	183824082	14198348	20	14173											
DGKG	1608	broad.mit.edu	37	chr3	185975697	185975697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacaggccaaaacacGgaagtctggagtatcacgga	14	5	10	12	2	2	0	1	0	1	0	3	3	3	3	3	4	1	1	3	4	4	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:185975697G>A	ENST00000265022.3	-	17	1995	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_ENST00000382164.4_Missense_Mutation_p.R447C|DGKG_ENST00000544847.1_Missense_Mutation_p.R427C|DGKG_ENST00000344484.4_Missense_Mutation_p.R461C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	486	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463																																						uc003fqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1456-1458)Cgt>Tgt		Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						116	105	109					3																	185975697		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185975697G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1456C>T	3.37:g.185975697G>A	ENSP00000265022:p.Arg486Cys					DGKG_uc003fqb.3_Missense_Mutation_p.R447C|DGKG_uc003fqc.3_Missense_Mutation_p.R461C|DGKG_uc011brx.2_Missense_Mutation_p.R427C	p.R486C	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	16	1993	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		486			DAGKc.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1456C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514140	0.85389	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.45668	0.89;0.9;0.89;0.89	5.33	5.33	0.75918	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	0.987;0.995;0.973;1.0	P;P;P;D	0.77004	0.784;0.908;0.532;0.989	T	0.73534	-0.3952	10	0.72032	D	0.01	.	12.9633	0.58470	0.0:0.0:0.8381:0.1619	.	427;461;447;486	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	C	486;461;447;427;450	ENSP00000265022:R486C;ENSP00000339777:R461C;ENSP00000371599:R447C;ENSP00000440507:R427C	ENSP00000265022:R486C	R	-	1	0	DGKG	187458391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.311000	0.65786	2.775000	0.95449	0.655000	0.94253	CGT		0.463	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			A	185975697	G	A	185975697	3	1	202	1	0	0	0	0	1	0	0	0	4469	1116	39	2	955	2	DGKG	3	185975697	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	2151615	185975697	12046733	21	14174											
BDH1	622	broad.mit.edu	37	chr3	197238913	197238913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatcgatgacaggggaCgtgtctgtggagccactgct	9	8	14	10	2	1	1	0	1	1	0	2	4	1	3	1	3	3	2	1	3	0	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:197238913C>T	ENST00000392378.2	-	7	1195	c.885G>A	c.(883-885)acG>acA	p.T295T	BDH1_ENST00000358186.2_Silent_p.T295T|BDH1_ENST00000441275.1_Silent_p.T208T|BDH1_ENST00000392379.1_Silent_p.T295T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	295					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TGACAGGGGACGTGTCTGTGG	0.577																																						uc003fxr.3																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(883-885)acG>acA		Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	NADH(DB00157)						202	168	180					3																	197238913		2203	4300	6503	SO:0001819	synonymous_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238913C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.885G>A	3.37:g.197238913C>T						BDH1_uc003fxs.3_Silent_p.T295T|BDH1_uc003fxu.3_Silent_p.T295T	p.T295T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	1287	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	295					D3DXC0|Q96ET1|Q9BRZ4	Silent	SNP	ENST00000392378.2	37	c.885G>A	CCDS3328.1																																																																																				0.577	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		T	197238913	C	T	197238913	2	4	202	1	0	0	0	0	0	0	0	1	1390	523	19	1		1	BDH1	3	197238913	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	11263216	197238913	783517	22	14175											
AMBN	258	broad.mit.edu	37	chr4	71472354	71472354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcaaccatggataccacGatggccccaaactctctgca	13	6	8	14	1	1	0	0	0	1	0	2	3	1	1	4	2	5	2	4	2	4	1	rs570826995		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr4:71472354G>A	ENST00000322937.6	+	13	1354	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	AMBN_ENST00000449493.2_Silent_p.T402T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	417					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		19423	0		0	False		,,,				2504	0					uc003hfl.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1249-1251)acG>acA		Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.							61	65	64					4																	71472354		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472354G>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1251G>A	4.37:g.71472354G>A							p.T417T	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		12	1352	+			417					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.1251G>A	CCDS3543.1																																																																																				0.512	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		A	71472354	G	A	71472354	2	1	202	1	0	0	0	0	0	0	0	1	563	1045	37	2		2	AMBN	4	71472354	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08		71472354	119681922	23	14176											
IRX1	79192	broad.mit.edu	37	chr5	3600344	3600344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcactcaatggagacaagGcctcggtccgcagcagcccc	9	4	13	15	2	1	1	1	0	0	1	3	2	2	1	4	4	2	3	4	4	2	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:3600344G>A	ENST00000302006.3	+	2	1334	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	428					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAGACAAGGCCTCGGTCCG	0.697																																						uc003jde.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1282-1284)Gcc>Acc		Homo sapiens iroquois homeobox 1 (IRX1), mRNA.							16	20	19					5																	3600344		2201	4298	6499	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600344G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1282G>A	5.37:g.3600344G>A	ENSP00000305244:p.Ala428Thr						p.A428T	NM_024337	NP_077313	P78414	IRX1_HUMAN			1	1334	+			428					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1282G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169654	0.09339	.	.	ENSG00000170549	ENST00000302006	T	0.58797	0.31	4.24	3.29	0.37713	.	0.937373	0.08974	N	0.866772	T	0.27933	0.0688	N	0.02011	-0.69	0.34633	D	0.719803	B	0.11235	0.004	B	0.10450	0.005	T	0.37126	-0.9719	10	0.12430	T	0.62	.	7.6959	0.28594	0.0966:0.2866:0.6168:0.0	.	428	P78414	IRX1_HUMAN	T	428	ENSP00000305244:A428T	ENSP00000305244:A428T	A	+	1	0	IRX1	3653344	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.268000	0.43338	1.863000	0.54032	0.467000	0.42956	GCC		0.697	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3600344	G	A	3600344	3	1	202	1	0	0	0	0	1	0	0	0	7843	1203	42	3	1288	3	IRX1	5	3600344	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		3600344	177314916	24	14177											
CMYA5	202333	broad.mit.edu	37	chr5	79026546	79026546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacatctgagagctctcTctcaccatccacaactgaga	11	9	5	16	0	3	2	1	2	3	2	6	4	4	2	3	0	3	1	3	0	2	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:79026546T>C	ENST00000446378.2	+	2	1989	c.1958T>C	c.(1957-1959)cTc>cCc	p.L653P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	653					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGCTCTCTCTCACCATCC	0.458																																						uc003kgc.3																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1957-1959)cTc>cCc		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							55	55	55					5																	79026546		1945	4142	6087	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026546T>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1958T>C	5.37:g.79026546T>C	ENSP00000394770:p.Leu653Pro						p.L653P	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	2030	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	653					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1958T>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446927	0.25987	.	.	ENSG00000164309	ENST00000446378	T	0.51325	0.71	5.73	2.01	0.26516	.	1.390050	0.04697	N	0.415135	T	0.49184	0.1542	M	0.78801	2.425	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.42396	-0.9454	10	0.72032	D	0.01	.	4.1236	0.10116	0.1424:0.2418:0.0:0.6158	.	653	Q8N3K9	CMYA5_HUMAN	P	653	ENSP00000394770:L653P	ENSP00000394770:L653P	L	+	2	0	CMYA5	79062302	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.241000	0.18065	0.461000	0.27071	0.533000	0.62120	CTC		0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79026546	T	C	79026546	3	2	202	1	0	0	0	0	1	0	0	0	3590	1551	54	4	1964	4	CMYA5	5	79026546	Missense_Mutation	SNP	T	TCGA-28-2501-01A-01D-1696-08	75426202	79026546	101888714	25	14178											
ABLIM3	22885	broad.mit.edu	37	chr5	148617052	148617052	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaattacaaagacctggcGgctctccccaaggttaagtc	11	10	8	12	1	1	1	0	0	1	1	3	1	1	1	3	3	1	2	3	3	5	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:148617052G>T	ENST00000506113.1	+	10	1412	c.930G>T	c.(928-930)gcG>gcT	p.A310A	AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.A310A|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Silent_p.A310A|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	310					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCTGGCGGCTCTCCCCA	0.468																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(928-930)gcG>gcT		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							112	117	115					5																	148617052		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148617052G>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.930G>T	5.37:g.148617052G>T						ABLIM3_uc003lpz.1_Silent_p.A310A|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Silent_p.A310A|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	p.A310A	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1181	+			310					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.930G>T	CCDS4294.1																																																																																				0.468	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		T	148617052	G	T	148617052	2	4	202	1	0	0	0	0	0	0	0	1	96	1103	39	5		5	ABLIM3	5	148617052	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	69590506	148617052	32298208	26	14179											
SLIT3	6586	broad.mit.edu	37	chr5	168620553	168620553	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttattcttgttcaggcGcctaaagaggaaagagaatg	13	10	11	7	1	2	2	1	0	1	2	2	4	2	3	1	2	1	2	1	2	5	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:168620553G>A	ENST00000519560.1	-	4	762	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	SLIT3_ENST00000332966.8_Splice_Site_p.R115C|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Splice_Site_p.R115C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	115					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R115C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTTCAGGCGCCTAAAGAGG	0.438																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			1	Substitution - Missense(1)	p.R115C(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.e4-1		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							115	109	111					5																	168620553		2203	4300	6503	SO:0001630	splice_region_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168620553G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.342-1C>T	5.37:g.168620553G>A						SLIT3_uc003mab.3_Splice_Site_p.L114_splice|SLIT3_uc010jji.2_Splice_Site_p.L114_splice	p.L114_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	762	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	114					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.342_splice	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416299	0.83449	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.25085	1.82;1.82;1.82	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	T	0.47116	0.1428	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.39078	-0.9631	10	0.87932	D	0	.	17.0755	0.86585	0.0:0.0:1.0:0.0	.	115;115	O75094-2;O75094	.;SLIT3_HUMAN	C	115	ENSP00000430333:R115C;ENSP00000332164:R115C;ENSP00000384890:R115C	ENSP00000332164:R115C	R	-	1	0	SLIT3	168553131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.705000	0.92388	0.655000	0.94253	CGC		0.438	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Missense_Mutation	A	168620553	G	A	168620553	5	1	202	1	0	0	0	0	0	0	1	0	14741	1101	38	1	4360	1	SLIT3	5	168620553	Splice_Site	SNP	G	TCGA-28-2501-01A-01D-1696-08	20003501	168620553	12294707	27	14180											
MDC1	9656	broad.mit.edu	37	chr6	30682871	30682871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccgccctactggctccaCgttacacctcaaggattcac	9	9	7	16	2	2	0	2	0	0	0	3	1	3	1	4	2	3	2	4	2	4	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30682871C>T	ENST00000376406.3	-	2	729	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	MDC1_ENST00000376405.2_Missense_Mutation_p.V28M|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	28	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTGGCTCCACGTTACACCTC	0.458								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(82-84)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							164	142	150					6																	30682871		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30682871C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.82G>A	6.37:g.30682871C>T	ENSP00000365588:p.Val28Met					MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.V28M	p.V28M	NM_014641	NP_055456	Q14676	MDC1_HUMAN			1	522	-			28			Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.82G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	4.012	-0.000317	0.07819	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000435797;ENST00000452213;ENST00000416571;ENST00000425072;ENST00000422266	T;T	0.03181	4.1;4.02	5.22	-5.83	0.02325	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48614	-0.9020	9	0.37606	T	0.19	0.0609	2.2856	0.04125	0.2644:0.3844:0.2357:0.1155	.	28	Q14676	MDC1_HUMAN	M	28	ENSP00000365588:V28M;ENSP00000365587:V28M	ENSP00000365587:V28M	V	-	1	0	MDC1	30790850	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	-0.615000	0.05597	-0.564000	0.06070	-1.096000	0.02151	GTG		0.458	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		T	30682871	C	T	30682871	3	4	202	1	0	0	0	0	1	0	0	0	9403	536	19	1	6243	1	MDC1	6	30682871	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		30682871	140432196	28	14181											
IER3	8870	broad.mit.edu	37	chr6	30711832	30711832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgggcgccagggatgCggcgttaggggcgtcctctg	4	7	21	9	4	1	0	0	0	1	0	2	1	2	1	2	7	1	1	2	7	1	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30711832C>T	ENST00000259874.5	-	2	387	c.352G>A	c.(352-354)Gca>Aca	p.A118T	FLOT1_ENST00000470643.1_5'Flank|IER3_ENST00000376377.2_3'UTR|FLOT1_ENST00000376389.3_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	118					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GCCAGGGATGCGGCGTTAGGG	0.627																																						uc003nrn.3																			0				NS(1)	1						c.(352-354)Gca>Aca		Homo sapiens immediate early response 3 (IER3), mRNA.							35	39	38					6																	30711832		2203	4300	6503	SO:0001583	missense	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30711832C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.352G>A	6.37:g.30711832C>T	ENSP00000259874:p.Ala118Thr					FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	p.A118T	NM_003897	NP_003888	P46695	IEX1_HUMAN			1	384	-			118					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.352G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	7.163	0.586014	0.13749	.	.	ENSG00000137331	ENST00000259874;ENST00000376382	T	0.44482	0.92	3.4	0.461	0.16689	.	0.725547	0.11683	N	0.539595	T	0.09113	0.0225	L	0.36672	1.1	0.09310	N	0.999992	B	0.30482	0.281	B	0.21917	0.037	T	0.24404	-1.0161	10	0.25751	T	0.34	.	2.1308	0.03749	0.1916:0.4842:0.2075:0.1167	.	118	P46695	IEX1_HUMAN	T	118;154	ENSP00000259874:A118T	ENSP00000259874:A118T	A	-	1	0	IER3	30819811	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.099000	0.15210	0.071000	0.16664	0.456000	0.33151	GCA		0.627	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			T	30711832	C	T	30711832	3	4	202	1	0	0	0	0	1	0	0	0	7506	768	27	1	122	1	IER3	6	30711832	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	28961	30711832	140403235	29	14182											
BBS9	27241	broad.mit.edu	37	chr7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttattttaggcattccgCgagttatccaatgtaaattt	10	18	6	7	2	0	0	0	0	0	0	2	1	2	0	2	1	0	3	2	1	6	8			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:33397475C>T	ENST00000242067.6	+	16	2082	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_ENST00000355070.2_Nonsense_Mutation_p.R516*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.R486*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.R481*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.R486*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	521			R -> Q (in dbSNP:rs34218557).		cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome																													uc003tdn.1																		BBS9/PKD1L1(2)	0		p.R521Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(1561-1563)Cga>Tga		Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.							94	102	99					7																	33397475		2203	4299	6502	SO:0001587	stop_gained	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33397475C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1561C>T	7.37:g.33397475C>T	ENSP00000242067:p.Arg521*					BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	p.R521*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		15	2074	+			521		R -> Q (in dbSNP:rs34218557).			E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	c.1561C>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.807248|10.807248	0.99470|0.99470	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000434373|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	.|.	.|.	.|.	5.94|5.94	4.1|4.1	0.47936|0.47936	.|.	.|0.128329	.|0.49305	.|D	.|0.000159	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24941|.	-1.0146|.	4|.	.|0.02654	.|T	.|1	-16.6125|-16.6125	14.6331|14.6331	0.68671|0.68671	0.4657:0.5343:0.0:0.0|0.4657:0.5343:0.0:0.0	.|.	.|.	.|.	.|.	V|X	87|521;481;486;516;486;521	.|.	.|ENSP00000242067:R521X	A|R	+|+	2|1	0|2	BBS9|BBS9	33364000|33364000	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.987000|0.987000	0.75469|0.75469	1.220000|1.220000	0.32491|0.32491	0.803000|0.803000	0.34113|0.34113	-0.294000|-0.294000	0.09567|0.09567	GCG|CGA		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			T	33397475	C	T	33397475	4	4	202	1	0	0	0	0	0	1	0	0	1342	760	27	1	1619	1	BBS9	7	33397475	Nonsense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		33397475	125741188	30	14183											
PCLO	27445	broad.mit.edu	37	chr7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattactaggtggtgtctttGgcctttcccttcttctctga	4	18	9	10	0	3	1	0	1	3	0	5	2	4	1	2	3	1	0	2	3	2	6			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:82584801G>A	ENST00000333891.9	-	5	5805	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1823L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGTCTTTGGCCTTTCCCT	0.423																																						uc003uhx.2																			0		p.R1822M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5467-5469)cCa>cTa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							256	236	243					7																	82584801		1875	4107	5982	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584801G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5468C>T	7.37:g.82584801G>A	ENSP00000334319:p.Pro1823Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1823L	p.P1823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	5757	-			1754						Missense_Mutation	SNP	ENST00000333891.9	37	c.5468C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416433	0.25552	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19394	2.15;2.16	5.33	5.33	0.75918	.	.	.	.	.	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.27502	-1.0072	9	0.87932	D	0	.	19.012	0.92877	0.0:0.0:1.0:0.0	.	1823;1823	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1754;1823;1823	ENSP00000334319:P1823L;ENSP00000388393:P1823L	ENSP00000334319:P1823L	P	-	2	0	PCLO	82422737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.208000	0.65203	2.502000	0.84385	0.655000	0.94253	CCA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82584801	G	A	82584801	3	1	202	1	0	0	0	0	1	0	0	0	11583	1348	47	3	10061	3	PCLO	7	82584801	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	49187326	82584801	76553862	31	14184											
DMTF1	9988	broad.mit.edu	37	chr7	86815172	86815172	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacttgatgtagctgatgaAaatgacattaactgggatct	14	12	10	5	0	1	4	0	4	1	0	1	6	1	5	0	1	3	2	0	1	5	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:86815172A>G	ENST00000394703.5	+	14	1640	c.1077A>G	c.(1075-1077)gaA>gaG	p.E359E	DMTF1_ENST00000414194.2_Silent_p.E93E|DMTF1_ENST00000432937.2_Silent_p.E271E|DMTF1_ENST00000331242.7_Silent_p.E359E|DMTF1_ENST00000413276.2_Silent_p.E359E	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	359	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCTGATGAAAATGACATTA	0.398																																						uc003uih.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(1075-1077)gaA>gaG		Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.							241	216	224					7																	86815172		2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86815172A>G	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1077A>G	7.37:g.86815172A>G						DMTF1_uc003uii.3_Silent_p.E93E|DMTF1_uc003uij.3_Silent_p.E93E|DMTF1_uc011khb.2_Silent_p.E271E|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.E359E|DMTF1_uc003uin.3_Silent_p.E93E	p.E359E	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN			11	1403	+	Esophageal squamous(14;0.0058)		359			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 2.|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.1077A>G	CCDS5601.1																																																																																				0.398	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		G	86815172	A	G	86815172	2	3	202	1	0	0	0	0	0	0	0	1	4592	11	1	4		4	DMTF1	7	86815172	Silent	SNP	A	TCGA-28-2501-01A-01D-1696-08	4230371	86815172	72323491	32	14185											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997320	146997320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccatcgatggagatgaagCatcagcagttcgaactaata	15	8	9	9	2	1	2	1	1	0	1	3	5	1	2	1	1	3	3	1	1	4	3	rs367642984		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:146997320C>T	ENST00000361727.3	+	9	1952	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	479	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGATGAAGCATCAGCAGTT	0.428										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1435-1437)gCa>gTa		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		C	VAL/ALA	0,4406		0,0,2203	156	143	147		1436	5.9	1	7		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	479/1332	146997320	1,13005	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997320C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1436C>T	7.37:g.146997320C>T	ENSP00000354778:p.Ala479Val	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.A479V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1952	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	479			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1436C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279364	0.80692	0.0	1.16E-4	ENSG00000174469	ENST00000361727	T	0.77620	-1.11	5.95	5.95	0.96441	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.173042	0.37715	N	0.001963	T	0.77398	0.4124	M	0.65975	2.015	0.80722	D	1	B	0.14012	0.009	B	0.24006	0.05	T	0.70956	-0.4731	10	0.16420	T	0.52	.	18.9528	0.92646	0.0:1.0:0.0:0.0	.	479	Q9UHC6	CNTP2_HUMAN	V	479	ENSP00000354778:A479V	ENSP00000354778:A479V	A	+	2	0	CNTNAP2	146628253	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.266000	0.78452	2.817000	0.96982	0.563000	0.77884	GCA		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146997320	C	T	146997320	3	4	202	1	0	0	0	0	1	0	0	0	3647	710	25	3	1470	3	CNTNAP2	7	146997320	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	60182148	146997320	12141343	33	14186											
DOCK8	81704	broad.mit.edu	37	chr9	404947	404947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctcagtaaccttccaacGctcatttccatgaggctaga	12	10	7	12	1	2	2	2	1	0	1	4	2	4	2	3	1	3	4	3	1	4	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:404947G>A	ENST00000453981.1	+	27	3376	c.3264G>A	c.(3262-3264)acG>acA	p.T1088T	DOCK8_ENST00000382329.1_Silent_p.T555T|DOCK8_ENST00000382331.1_Silent_p.T390T|DOCK8_ENST00000432829.2_Silent_p.T1020T|DOCK8_ENST00000469391.1_Silent_p.T988T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1088					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTTCCAACGCTCATTTCCA	0.418																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3262-3264)acG>acA		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							123	105	111					9																	404947		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:404947G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3264G>A	9.37:g.404947G>A						DOCK8_uc022bcu.1_Silent_p.T1020T|DOCK8_uc010mgv.3_Silent_p.T988T|DOCK8_uc010mgu.3_Silent_p.T390T|DOCK8_uc010mgw.2_Silent_p.T390T|DOCK8_uc003zgk.2_Silent_p.T546T	p.T1088T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	26	3376	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1088					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.3264G>A	CCDS6440.2																																																																																				0.418	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	404947	G	A	404947	2	1	202	1	0	0	0	0	0	0	0	1	4693	1074	38	1		1	DOCK8	9	404947	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08		404947	140808484	34	14187											
ANKS6	203286	broad.mit.edu	37	chr9	101533299	101533299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggctgggcttctggggagGcttggaaatttaacaggcct	8	10	16	7	0	1	0	0	0	1	0	1	3	1	2	1	7	1	3	1	7	2	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:101533299G>A	ENST00000353234.4	-	10	1898	c.1851C>T	c.(1849-1851)agC>agT	p.S617S	ANKS6_ENST00000375018.1_Silent_p.S617S|ANKS6_ENST00000540940.1_Silent_p.S422S|ANKS6_ENST00000375019.2_Silent_p.S316S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	617	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTCTGGGGAGGCTTGGAAATT	0.582																																						uc004ayu.3																			0		p.P616S(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1849-1851)agC>agT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							43	49	47					9																	101533299		1898	4118	6016	SO:0001819	synonymous_variant	203286							g.chr9:101533299G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1851C>T	9.37:g.101533299G>A						ANKS6_uc004ayv.2_Silent_p.S79S|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.S316S	p.S617S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			9	1872	-		Acute lymphoblastic leukemia(62;0.0527)	617			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.1851C>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	7.396	0.631698	0.14322	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.66	-1.26	0.09376	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54827	-0.8235	4	.	.	.	-5.3985	11.599	0.50990	0.3725:0.0:0.6275:0.0	.	.	.	.	S	86	.	.	P	-	1	0	ANKS6	100573120	0.963000	0.33076	0.988000	0.46212	0.605000	0.37080	0.178000	0.16820	-0.217000	0.10033	-0.379000	0.06801	CCT		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		A	101533299	G	A	101533299	2	1	202	1	0	0	0	0	0	0	0	1	692	1194	42	3		3	ANKS6	9	101533299	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	101128352	101533299	39680132	35	14188											
BRD3	8019	broad.mit.edu	37	chr9	136918434	136918434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggtagaagggccaggCgaactggtgtttccagagcg	8	7	18	8	2	0	2	0	0	0	2	1	3	1	2	2	5	2	3	2	5	3	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:136918434C>T	ENST00000303407.7	-	2	351	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	BRD3_ENST00000357885.2_Missense_Mutation_p.A56T|RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.A56T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	56	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGAACTGGTGT	0.617			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.3				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(166-168)Gcc>Acc		Homo sapiens bromodomain containing 3 (BRD3), mRNA.							94	91	92					9																	136918434		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136918434C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.166G>A	9.37:g.136918434C>T	ENSP00000305918:p.Ala56Thr					BRD3_uc004cex.2_Missense_Mutation_p.A56T	p.A56T	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	1	354	-			56			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.166G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098256	0.76870	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842	T;T;T;T	0.36699	1.24;1.24;1.24;1.99	5.28	5.28	0.74379	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.62417	0.2426	M	0.82433	2.59	0.80722	D	1	D;D	0.64830	0.991;0.994	P;P	0.62435	0.902;0.811	T	0.68773	-0.5320	10	0.87932	D	0	-26.7557	17.8826	0.88845	0.0:1.0:0.0:0.0	.	56;56	Q15059-2;Q15059	.;BRD3_HUMAN	T	56	ENSP00000305918:A56T;ENSP00000360900:A56T;ENSP00000350557:A56T;ENSP00000360908:A56T	ENSP00000305918:A56T	A	-	1	0	BRD3	135908255	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	5.802000	0.69122	2.452000	0.82932	0.563000	0.77884	GCC		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		T	136918434	C	T	136918434	3	4	202	1	0	0	0	0	1	0	0	0	1503	768	27	1	2058	1	BRD3	9	136918434	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	35385135	136918434	4294997	36	14189											
MYO3A	53904	broad.mit.edu	37	chr10	26465747	26465747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataagccaattaatagaCgagtttcttctcagcagtgc	13	11	7	10	1	2	1	1	0	2	1	3	2	2	1	2	0	3	2	2	0	4	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr10:26465747C>T	ENST00000265944.5	+	31	4577	c.4411C>T	c.(4411-4413)Cga>Tga	p.R1471*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1471					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTAATAGACGAGTTTCTTC	0.378																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4411-4413)Cga>Tga		Homo sapiens myosin IIIA (MYO3A), mRNA.							87	83	84					10																	26465747		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26465747C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4411C>T	10.37:g.26465747C>T	ENSP00000265944:p.Arg1471*					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.R1471*	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4771	+			1471					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.4411C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	43	10.188804	0.99355	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.65	3.81	0.43845	.	0.819014	0.11589	N	0.548954	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.398	0.55397	0.0:0.8096:0.122:0.0684	.	.	.	.	X	1471	.	ENSP00000265944:R1471X	R	+	1	2	MYO3A	26505753	0.235000	0.23794	0.010000	0.14722	0.885000	0.51271	0.952000	0.29149	0.344000	0.23847	-0.810000	0.03169	CGA		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26465747	C	T	26465747	4	4	202	1	0	0	0	0	0	1	0	0	10076	528	19	1	4525	1	MYO3A	10	26465747	Nonsense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		26465747	109069000	37	14190											
OR5D16	390144	broad.mit.edu	37	chr11	55606359	55606359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagtgtggtagggaaTcttgggatgatagtgatcat	9	13	15	4	0	3	2	2	2	1	0	3	4	3	4	0	4	0	2	0	4	3	4	rs571858428		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:55606359T>C	ENST00000378396.1	+	1	132	c.132T>C	c.(130-132)aaT>aaC	p.N44N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGTAGGGAATCTTGGGATGA	0.438																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(130-132)aaT>aaC		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							150	144	146					11																	55606359		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606359T>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.132T>C	11.37:g.55606359T>C							p.N44N	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	132	+		all_epithelial(135;0.208)	44					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.132T>C	CCDS31512.1																																																																																				0.438	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		C	55606359	T	C	55606359	2	2	202	1	0	0	0	0	0	0	0	1	11156	1432	50	4		4	OR5D16	11	55606359	Silent	SNP	T	TCGA-28-2501-01A-01D-1696-08		55606359	79400157	38	14191											
OR5AR1	219493	broad.mit.edu	37	chr11	56431688	56431688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccaatatcatcaatcAtttcttctgcgaaatcccac	11	14	4	12	1	5	0	3	0	2	0	7	1	7	0	2	1	1	1	2	1	4	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:56431688A>G	ENST00000302969.2	+	1	551	c.527A>G	c.(526-528)cAt>cGt	p.H176R		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCATCAATCATTTCTTCTGC	0.488																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(526-528)cAt>cGt		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							227	200	209					11																	56431688		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431688A>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.527A>G	11.37:g.56431688A>G	ENSP00000302639:p.His176Arg					OR8U8_uc001nit.2_Intron	p.H176R	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	527	+			176					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.527A>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041032	0.55003	.	.	ENSG00000172459	ENST00000302969	T	0.00174	8.62	4.91	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.134335	0.34002	N	0.004350	T	0.00845	0.0028	H	0.96748	3.875	0.29001	N	0.887473	D	0.62365	0.991	D	0.78314	0.991	T	0.04216	-1.0968	10	0.87932	D	0	.	10.258	0.43410	0.8519:0.0:0.0:0.1481	.	176	Q8NGP9	O5AR1_HUMAN	R	176	ENSP00000302639:H176R	ENSP00000302639:H176R	H	+	2	0	OR5AR1	56188264	0.837000	0.29446	0.997000	0.53966	0.948000	0.59901	5.548000	0.67255	0.859000	0.35456	0.467000	0.42956	CAT		0.488	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		G	56431688	A	G	56431688	3	3	202	1	0	0	0	0	1	0	0	0	11145	217	8	4	529	4	OR5AR1	11	56431688	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08	825329	56431688	78574828	39	14192											
LRRC32	2615	broad.mit.edu	37	chr11	76372493	76372493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggtctcagtgtctggCgggagcaccgaggggacctg	7	7	17	10	2	3	0	2	0	2	0	4	3	3	2	2	5	1	1	2	5	1	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:76372493C>T	ENST00000407242.2	-	3	386	c.144G>A	c.(142-144)ccG>ccA	p.P48P	LRRC32_ENST00000260061.5_Silent_p.P48P|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.P48P	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	48					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGTCTGGCGGGAGCACCG	0.622																																						uc001oxq.4																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(142-144)ccG>ccA		Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.							42	42	42					11																	76372493		2200	4291	6491	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76372493C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.144G>A	11.37:g.76372493C>T						LRRC32_uc001oxr.4_Silent_p.P48P|LRRC32_uc010rsf.2_Silent_p.P48P	p.P48P	NM_005512	NP_005503	Q14392	LRC32_HUMAN			2	387	-			48					Q86V06	Silent	SNP	ENST00000407242.2	37	c.144G>A	CCDS8245.1																																																																																				0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		T	76372493	C	T	76372493	2	4	202	1	0	0	0	0	0	0	0	1	8987	755	27	1		1	LRRC32	11	76372493	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	19940805	76372493	58634023	40	14193											
PTPRR	5801	broad.mit.edu	37	chr12	71078010	71078010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatcatggggccctgcGtggcaatgaaggctttctcc	6	12	13	10	1	2	2	1	2	1	0	3	2	2	2	2	4	1	3	2	4	2	2	rs150540173		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:71078010G>A	ENST00000283228.2	-	10	1846	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	PTPRR_ENST00000378778.1_Missense_Mutation_p.T259M|PTPRR_ENST00000342084.4_Missense_Mutation_p.T353M|PTPRR_ENST00000549308.1_Missense_Mutation_p.T220M|PTPRR_ENST00000440835.2_Missense_Mutation_p.T220M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	465	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGGCCCTGCGTGGCAATGAA	0.433																																						uc001swi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1393-1395)aCg>aTg		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	105	92	96		1058,776,1394,659	5.7	1	12	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRR	NM_001207015.1,NM_001207016.1,NM_002849.3,NM_130846.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	353/546,259/452,465/658,220/413	71078010	1,13005	2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71078010G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1394C>T	12.37:g.71078010G>A	ENSP00000283228:p.Thr465Met					PTPRR_uc001swh.2_Missense_Mutation_p.T220M|PTPRR_uc009zrs.3_Missense_Mutation_p.T259M|PTPRR_uc010stq.2_Missense_Mutation_p.T353M|PTPRR_uc010str.1_Missense_Mutation_p.T314M	p.T465M	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	9	1808	-			465			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1394C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849266	0.91277	0.0	1.16E-4	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.51477	D	0.000095	D	0.96445	0.8840	H	0.98155	4.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97610	1.0129	10	0.87932	D	0	-13.8925	19.4597	0.94912	0.0:0.0:1.0:0.0	.	314;353;259;465	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	M	220;465;259;353;220	ENSP00000391750:T220M;ENSP00000283228:T465M;ENSP00000368054:T259M;ENSP00000339605:T353M;ENSP00000446943:T220M	ENSP00000283228:T465M	T	-	2	0	PTPRR	69364277	1.000000	0.71417	0.961000	0.40146	0.983000	0.72400	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	ACG		0.433	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		A	71078010	G	A	71078010	3	1	202	1	0	0	0	0	1	0	0	0	12810	1145	40	1	599	1	PTPRR	12	71078010	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		71078010	62773885	41	14194											
CHD8	57680	broad.mit.edu	37	chr14	21897194	21897194	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcctggtcccattatctGagcctgctgtacagaggaca	8	12	10	11	0	1	2	0	1	1	1	3	3	3	3	3	2	3	2	3	2	2	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr14:21897194G>A	ENST00000557364.1	-	3	1407	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.Q103*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.Q382*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	382	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCATTATCTGAGCCTGCTGT	0.517																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1144-1146)Cag>Tag		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							140	144	143					14																	21897194		2105	4238	6343	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897194G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1144C>T	14.37:g.21897194G>A	ENSP00000451601:p.Gln382*					CHD8_uc001was.2_Nonsense_Mutation_p.Q103*	p.Q382*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	1	1209	-	all_cancers(95;0.00121)		382			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.1144C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	37	6.569169	0.97671	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-14.0764	11.5855	0.50916	0.0818:0.0:0.9182:0.0	.	.	.	.	X	103;382;102;382	.	ENSP00000262707:Q102X	Q	-	1	0	CHD8	20967034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	2.828000	0.97474	0.655000	0.94253	CAG		0.517	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		A	21897194	G	A	21897194	4	1	202	1	0	0	0	0	0	1	0	0	3331	1299	45	3	6745	3	CHD8	14	21897194	Nonsense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		21897194	85452346	42	14195											
EPB42	2038	broad.mit.edu	37	chr15	43499515	43499515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactccagtgtcccatcCtcacagcacttccagaccac	10	8	5	18	0	2	1	2	0	0	1	6	1	6	1	5	0	2	1	5	0	1	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:43499515C>T	ENST00000441366.2	-	9	1425	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	EPB42_ENST00000300215.3_Silent_p.E430E|EPB42_ENST00000540029.1_Silent_p.E322E|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	400					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGTCCCATCCTCACAGCACT	0.552																																						uc001zrb.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1288-1290)gaG>gaA		Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.							123	86	98					15																	43499515		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43499515C>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1200G>A	15.37:g.43499515C>T						EPB42_uc001zqz.4_Silent_p.E67E|EPB42_uc001zra.4_Silent_p.E400E|EPB42_uc010udm.2_Silent_p.E322E	p.E430E	NM_000119	NP_000110	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	8	1590	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	400					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.1290G>A	CCDS45249.1																																																																																				0.552	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		T	43499515	C	T	43499515	2	4	202	1	0	0	0	0	0	0	0	1	5158	680	24	3		3	EPB42	15	43499515	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08		43499515	59031877	43	14196											
CILP	8483	broad.mit.edu	37	chr15	65489544	65489544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgccctgggggatgAccttcaccagggtgcggtcc	5	7	16	13	1	1	1	1	1	0	0	2	2	2	2	4	5	3	2	4	5	0	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:65489544A>G	ENST00000261883.4	-	9	3246	c.3080T>C	c.(3079-3081)gTc>gCc	p.V1027A		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1027					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGGGATGACCTTCACCAG	0.592																																						uc002aon.2																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3079-3081)gTc>gCc		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							111	73	86					15																	65489544		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489544A>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3080T>C	15.37:g.65489544A>G	ENSP00000261883:p.Val1027Ala						p.V1027A	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	3261	-			1027					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3080T>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918117	0.52546	.	.	ENSG00000138615	ENST00000261883	T	0.09538	2.97	5.54	5.54	0.83059	.	0.317985	0.34223	N	0.004144	T	0.15349	0.0370	M	0.65498	2.005	0.52099	D	0.99994	P	0.41393	0.748	B	0.37451	0.25	T	0.01235	-1.1410	10	0.87932	D	0	-0.2897	14.8642	0.70401	1.0:0.0:0.0:0.0	.	1027	O75339	CILP1_HUMAN	A	1027	ENSP00000261883:V1027A	ENSP00000261883:V1027A	V	-	2	0	CILP	63276597	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.311000	0.96282	2.108000	0.64289	0.533000	0.62120	GTC		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		G	65489544	A	G	65489544	3	3	202	1	0	0	0	0	1	0	0	0	3429	275	10	4	478	4	CILP	15	65489544	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08	21990029	65489544	37041848	44	14197											
C15orf17	57184	broad.mit.edu	37	chr15	75198690	75198690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcagaacggccttggcCaggtcccggtgcttctctgg	4	9	13	15	3	1	1	0	0	1	1	4	1	3	1	4	5	2	2	4	5	1	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:75198690C>T	ENST00000357635.5	-	2	551	c.231G>A	c.(229-231)ctG>ctA	p.L77L	FAM219B_ENST00000565772.1_5'UTR|FAM219B_ENST00000563119.1_Silent_p.L77L|FAM219B_ENST00000457294.2_Silent_p.L77L|FAM219B_ENST00000563706.1_5'Flank	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	77																	CGGCCTTGGCCAGGTCCCGGT	0.657																																						uc002azh.4																			0											c.(229-231)ctG>ctA		Homo sapiens chromosome 15 open reading frame 17 (C15orf17), mRNA.							21	20	20					15																	75198690		2196	4295	6491	SO:0001819	synonymous_variant	57184						cytochrome-c oxidase activity	g.chr15:75198690C>T	AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 17"	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.231G>A	15.37:g.75198690C>T						FAM219B_uc010bkh.3_5'UTR|FAM219B_uc002azf.3_Silent_p.L77L|FAM219B_uc002azg.2_Silent_p.L77L	p.L77L	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN			1	552	-			77					A8K4Q5|B4DK57|Q9NXY0	Silent	SNP	ENST00000357635.5	37	c.231G>A	CCDS32295.1																																																																																				0.657	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420165.1	NM_020447		T	75198690	C	T	75198690	2	4	202	1	0	0	0	0	0	0	0	1	1783	581	21	3		3	C15orf17	15	75198690	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	9709146	75198690	27332702	45	14198											
DNAH2	146754	broad.mit.edu	37	chr17	7643079	7643079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcagtatcacttcgcccGctgggaagatggcaagcagg	9	8	13	11	2	2	1	2	0	0	1	3	2	2	2	1	3	1	4	1	3	3	2	rs145686578		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:7643079G>A	ENST00000572933.1	+	9	2659	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DNAH2_ENST00000082259.3_Missense_Mutation_p.R482H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R400H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R482H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	400	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R400H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACTTCGCCCGCTGGGAAGAT	0.483																																						uc002giu.1																			1	Substitution - Missense(1)	p.R400H(2)|p.A399V(1)	endometrium(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1198-1200)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	HIS/ARG	0,4406		0,0,2203	71	65	67		1199	5	1	17	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	400/4428	7643079	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643079G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1199G>A	17.37:g.7643079G>A	ENSP00000458355:p.Arg400His					DNAH2_uc002git.3_Missense_Mutation_p.R482H|DNAH2_uc010vuk.2_Missense_Mutation_p.R400H	p.R400H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			7	1213	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	400			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1199G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885069	0.91814	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56275	1.77;0.47	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	L	0.43152	1.355	0.43683	D	0.996122	D;D	0.89917	1.0;0.978	D;P	0.78314	0.991;0.669	T	0.66135	-0.5999	10	0.54805	T	0.06	.	17.6301	0.88104	0.0:0.0:1.0:0.0	.	400;482	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	400;400;482	ENSP00000373825:R400H;ENSP00000082259:R482H	ENSP00000082259:R482H	R	+	2	0	DNAH2	7583804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.209000	0.89751	2.779000	0.95612	0.650000	0.86243	CGC		0.483	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7643079	G	A	7643079	3	1	202	1	0	0	0	0	1	0	0	0	4602	1087	38	1	1229	1	DNAH2	17	7643079	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		7643079	73552131	46	14199											
DNAH9	1770	broad.mit.edu	37	chr17	11650946	11650946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgctggtaccggcaagtCacaggtgctgaggtccttgc	6	9	15	11	2	1	1	1	1	0	0	2	1	2	1	2	5	3	4	2	5	2	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:11650946C>T	ENST00000262442.4	+	32	6541	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2158L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2158	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGGCAAGTCACAGGTGCTG	0.562																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6472-6474)tCa>tTa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							83	76	78					17																	11650946		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650946C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6473C>T	17.37:g.11650946C>T	ENSP00000262442:p.Ser2158Leu					DNAH9_uc010coo.3_Missense_Mutation_p.S1452L	p.S2158L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6541	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2158			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6473C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.608047	0.66558	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.45276	0.9;0.9	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.159795	0.44688	D	0.000428	T	0.71970	0.3403	H	0.94964	3.605	0.80722	D	1	D	0.56521	0.976	P	0.62560	0.904	T	0.82354	-0.0499	10	0.87932	D	0	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	2158	Q9NYC9	DYH9_HUMAN	L	2158;2158;740	ENSP00000262442:S2158L;ENSP00000414874:S2158L	ENSP00000262442:S2158L	S	+	2	0	DNAH9	11591671	1.000000	0.71417	0.990000	0.47175	0.705000	0.40729	0.878000	0.28126	2.346000	0.79739	0.557000	0.71058	TCA		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11650946	C	T	11650946	3	4	202	1	0	0	0	0	1	0	0	0	4608	838	29	3	6599	3	DNAH9	17	11650946	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	4007867	11650946	69544264	47	14200											
ITGB3	3690	broad.mit.edu	37	chr17	45376748	45376748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgcaactgtaccacgCgtactgacacctgcatgtcc	10	9	7	15	2	0	1	0	1	0	0	1	1	1	1	3	0	6	4	3	0	4	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:45376748C>T	ENST00000559488.1	+	11	1781	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	ITGB3_ENST00000560629.1_Missense_Mutation_p.A577V|ITGB3_ENST00000435993.2_Missense_Mutation_p.R542C	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	589	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CTGTACCACGCGTACTGACAC	0.607																																						uc002ilj.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1765-1767)Cgt>Tgt		Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	Abciximab(DB00054)|Tirofiban(DB00775)						98	87	91					17																	45376748		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45376748C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1765C>T	17.37:g.45376748C>T	ENSP00000452786:p.Arg589Cys					ITGB3_uc010wkr.1_Non-coding_Transcript	p.R589C	NM_000212	NP_000203	P05106	ITB3_HUMAN			10	1785	+			589			Cysteine-rich tandem repeats.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1765C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996918	0.74818	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92805	-3.11	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.92383	0.5915	10	0.72032	D	0.01	.	14.4139	0.67135	0.1483:0.8517:0.0:0.0	.	589	P05106	ITB3_HUMAN	C	589;542	ENSP00000407801:R542C	ENSP00000262017:R589C	R	+	1	0	C17orf57	42731747	0.976000	0.34144	0.981000	0.43875	0.480000	0.33159	2.487000	0.45268	2.770000	0.95276	0.555000	0.69702	CGT		0.607	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		T	45376748	C	T	45376748	3	4	202	1	0	0	0	0	1	0	0	0	7895	768	27	1	1807	1	ITGB3	17	45376748	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	33725802	45376748	35818462	48	14201											
SPAG9	9043	broad.mit.edu	37	chr17	49062314	49062314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagattgcaagggtgcCgtcagccagggctactaaca	12	7	13	9	1	1	2	1	1	0	1	1	2	1	2	2	2	5	2	2	2	4	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:49062314C>T	ENST00000262013.7	-	24	3266	c.3058G>A	c.(3058-3060)Ggc>Agc	p.G1020S	SPAG9_ENST00000510283.1_Missense_Mutation_p.G863S|SPAG9_ENST00000505279.1_Missense_Mutation_p.G1010S|SPAG9_ENST00000357122.4_Missense_Mutation_p.G1006S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1020					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGGGTGCCGTCAGCCAGG	0.458																																						uc002itc.3																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3058-3060)Ggc>Agc		Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.							198	173	181					17																	49062314		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49062314C>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3058G>A	17.37:g.49062314C>T	ENSP00000262013:p.Gly1020Ser					SPAG9_uc002itd.3_Missense_Mutation_p.G1010S|SPAG9_uc002itb.3_Missense_Mutation_p.G1006S|SPAG9_uc002ita.3_Missense_Mutation_p.G863S	p.G1020S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		23	3267	-			1020					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3058G>A	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	36	5.970721	0.97156	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.79205	-0.1899	10	0.52906	T	0.07	-7.1705	19.7863	0.96440	0.0:1.0:0.0:0.0	.	1010;1020;1006;863	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	S	1020;777;767;557;863;1010;1006;618	ENSP00000262013:G1020S;ENSP00000423165:G863S;ENSP00000426900:G1010S;ENSP00000349636:G1006S	ENSP00000262013:G1020S	G	-	1	0	SPAG9	46417313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.958000	0.70330	2.665000	0.90641	0.655000	0.94253	GGC		0.458	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		T	49062314	C	T	49062314	3	4	202	1	0	0	0	0	1	0	0	0	14985	652	23	2	935	2	SPAG9	17	49062314	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	3685566	49062314	32132896	49	14202											
CD300LB	124599	broad.mit.edu	37	chr17	72521999	72521999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatggtcacagtgaaCgtgcggtctttctgattgtc	6	13	10	12	2	3	2	1	2	2	0	5	2	4	2	2	2	2	0	2	2	1	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:72521999C>T	ENST00000392621.1	-	2	373	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_ENST00000314401.3_Silent_p.T123T	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517																																						uc002jkx.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(367-369)acG>acA		Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.							254	225	235					17																	72521999		2203	4300	6503	SO:0001819	synonymous_variant	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72521999C>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.369G>A	17.37:g.72521999C>T						CD300LB_uc010wqz.1_Silent_p.T123T	p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			1	382	-			86					Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	c.369G>A	CCDS11700.1																																																																																				0.517	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		T	72521999	C	T	72521999	2	4	202	1	0	0	0	0	0	0	0	1	2999	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	23459685	72521999	8673211	50	14203											
EVPL	2125	broad.mit.edu	37	chr17	74005267	74005267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccgcctcttctgggccGcctcccgcacctcctggcgg	1	7	12	21	5	2	0	0	0	2	0	4	0	4	0	7	4	0	1	7	4	0	1	rs375290979		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:74005267G>A	ENST00000301607.3	-	22	4272	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	EVPL_ENST00000586740.1_Missense_Mutation_p.A1362V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1340	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTCTGGGCCGCCTCCCGCAC	0.672																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4084-4086)gCg>gTg		Homo sapiens envoplakin (EVPL), mRNA.		G	VAL/ALA	1,4395		0,1,2197	52	62	59		4019	3.4	0.2	17		59	0,8590		0,0,4295	no	missense	EVPL	NM_001988.2	64	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1340/2034	74005267	1,12985	2198	4295	6493	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005267G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4019C>T	17.37:g.74005267G>A	ENSP00000301607:p.Ala1340Val					EVPL_uc002jqi.2_Missense_Mutation_p.A1340V|EVPL_uc010wst.1_Missense_Mutation_p.A810V	p.A1362V	NM_001988	NP_001979	Q92817	EVPL_HUMAN			21	4313	-			1340			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4085C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	4.410	0.075867	0.08485	2.27E-4	0.0	ENSG00000167880	ENST00000301607	T	0.46063	0.88	5.41	3.37	0.38596	.	0.112837	0.64402	N	0.000014	T	0.36026	0.0952	M	0.63428	1.95	0.21878	N	0.999497	B;B	0.18968	0.018;0.032	B;B	0.10450	0.004;0.005	T	0.32481	-0.9905	10	0.52906	T	0.07	-34.3352	5.9786	0.19395	0.2233:0.0:0.6408:0.1358	.	1362;1340	B7ZLH8;Q92817	.;EVPL_HUMAN	V	1340	ENSP00000301607:A1340V	ENSP00000301607:A1340V	A	-	2	0	EVPL	71516862	0.957000	0.32711	0.174000	0.22961	0.961000	0.63080	2.473000	0.45145	1.270000	0.44297	0.561000	0.74099	GCG		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74005267	G	A	74005267	3	1	202	1	0	0	0	0	1	0	0	0	5292	1087	38	1	2086	1	EVPL	17	74005267	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	1483268	74005267	7189943	51	14204											
ENGASE	64772	broad.mit.edu	37	chr17	77073797	77073797	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagcttttacttgtcttcGctggaggagctcttggcgtg	5	15	12	9	2	3	0	1	0	2	0	4	2	3	2	0	3	3	3	0	3	1	5	rs375589820	byFrequency	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:77073797G>T	ENST00000579016.1	+	3	267	c.267G>T	c.(265-267)tcG>tcT	p.S89S	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	89						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACTTGTCTTCGCTGGAGGAGC	0.527																																						uc002jwv.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(265-267)tcG>tcT		Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.							106	110	109					17																	77073797		1947	4133	6080	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073797G>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.267G>T	17.37:g.77073797G>T						ENGASE_uc002jwu.1_Silent_p.S89S|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	p.S89S	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			2	275	+			89					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.267G>T	CCDS42394.1																																																																																				0.527	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		T	77073797	G	T	77073797	2	4	202	1	0	0	0	0	0	0	0	1	5118	1074	38	5		5	ENGASE	17	77073797	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	3068530	77073797	4121413	52	14205											
DENND1C	79958	broad.mit.edu	37	chr19	6479059	6479059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgctgcacggcggggctgGggggctccctggagtgggaa	6	6	20	9	2	0	0	0	0	0	0	1	2	1	2	1	8	2	4	1	8	2	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:6479059G>A	ENST00000381480.2	-	5	297	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P18L|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	62	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGCGGGGCTGGGGGGCTCCCT	0.632																																						uc002mfe.3																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(184-186)cCc>cTc		Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.							41	51	48					19																	6479059		1930	4132	6062	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6479059G>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.185C>T	19.37:g.6479059G>A	ENSP00000370889:p.Pro62Leu					DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P18L	p.P62L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			4	277	-			62			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.185C>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250034	0.39797	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.39997	1.05;1.05	5.24	4.12	0.48240	uDENN (3);	0.331840	0.30840	N	0.008778	T	0.27933	0.0688	N	0.19112	0.55	0.38740	D	0.953874	B	0.26577	0.153	B	0.34346	0.18	T	0.08126	-1.0737	10	0.09338	T	0.73	-25.9796	11.764	0.51920	0.0:0.0:0.8121:0.1879	.	62	Q8IV53	DEN1C_HUMAN	L	62;18	ENSP00000370889:P62L;ENSP00000437805:P18L	ENSP00000370889:P62L	P	-	2	0	DENND1C	6430059	0.523000	0.26274	1.000000	0.80357	0.925000	0.55904	1.149000	0.31626	2.459000	0.83118	0.313000	0.20887	CCC		0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		A	6479059	G	A	6479059	3	1	202	1	0	0	0	0	1	0	0	0	4428	1232	43	3	2296	3	DENND1C	19	6479059	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		6479059	52649924	53	14206											
MUC16	94025	broad.mit.edu	37	chr19	9069613	9069613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctacttcctgatactgCggaataaagagatgaatgtg	12	10	13	6	1	0	3	0	2	0	1	1	5	1	4	1	3	3	1	1	3	6	4	rs199743326		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:9069613C>T	ENST00000397910.4	-	3	18036	c.17833G>A	c.(17833-17835)Gca>Aca	p.A5945T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5947	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGATACTGCGGAATAAAGA	0.512																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17833-17835)Gca>Aca		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							100	95	96					19																	9069613		1960	4139	6099	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069613C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17833G>A	19.37:g.9069613C>T	ENSP00000381008:p.Ala5945Thr						p.A5945T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	18037	-			5947			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17833G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.734	0.319905	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.17213	2.29	1.76	-0.803	0.10886	.	.	.	.	.	T	0.03608	0.0103	N	0.00368	-1.59	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	8	0.87932	D	0	.	2.373	0.04335	0.246:0.3866:0.0:0.3674	.	5945	B5ME49	.	T	5945	ENSP00000381008:A5945T	ENSP00000381008:A5945T	A	-	1	0	MUC16	8930613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.047000	0.03521	-0.791000	0.04486	-0.893000	0.02921	GCA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9069613	C	T	9069613	3	4	202	1	0	0	0	0	1	0	0	0	9973	768	27	1	26018	1	MUC16	19	9069613	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	2590554	9069613	50059370	54	14207											
MC3R	4159	broad.mit.edu	37	chr20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttccggagcctggaattgCgcaacacctttagggagatt	9	11	11	10	2	0	1	0	0	0	1	1	4	1	3	3	3	3	1	3	3	3	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517																																						uc002xxb.2																			1	Substitution - Missense(1)	p.R344C(1)	breast(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)Cgc>Tgc		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							171	162	165					20																	54824818		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824818C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys						p.R307C	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	1031	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.919C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824818	C	T	54824818	3	4	202	1	0	0	0	0	1	0	0	0	9365	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		54824818	8200702	55	14208											
TPTE	7179	broad.mit.edu	37	chr21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgataggtgacaccCgggctgctcctttaaattca	9	13	8	11	1	2	2	2	2	0	0	3	2	3	2	2	2	1	2	2	2	3	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(151-153)cGg>cAg		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							234	220	225					21																	10969096		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969096C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.152G>A	21.37:g.10969096C>T	ENSP00000355208:p.Arg51Gln					TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.R51Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	520	-			51					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.152G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	4.078	0.012302	0.07912	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94687	-3.49	0.558	-1.12	0.09808	.	0.602094	0.13783	U	0.363084	T	0.81880	0.4916	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63484	-0.6627	9	0.21540	T	0.41	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	Q	51;33	ENSP00000355208:R51Q	ENSP00000399471:R33Q	R	-	2	0	TPTE	9990967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-2.672000	0.00413	-2.396000	0.00226	CGG		0.453	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10969096	C	T	10969096	3	4	202	1	0	0	0	0	1	0	0	0	16427	652	23	2	1575	2	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		10969096	37160799	56	14209											
C21orf29	54084	broad.mit.edu	37	chr21	45948429	45948429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttccacctcggtacaCggtggctggggtcccagcgt	4	9	14	14	4	1	0	0	0	1	0	4	0	3	0	3	5	2	2	3	5	1	2	rs371022077		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:45948429C>T	ENST00000323084.4	-	6	893	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_ENST00000397916.1_Silent_p.P208P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	276	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(826-828)ccG>ccA		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	126	103	111		828	-10.2	0	21		111	0,8600		0,0,4300	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		276/670	45948429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948429C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.828G>A	21.37:g.45948429C>T						TSPEAR_uc010gpv.1_Silent_p.P208P	p.P276P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			5	894	-			276						Silent	SNP	ENST00000323084.4	37	c.828G>A	CCDS13712.1																																																																																				0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45948429	C	T	45948429	2	4	202	1	0	0	0	0	0	0	0	1	2124	523	19	1		1	C21orf29	21	45948429	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	34979333	45948429	2181466	57	14210											
MYO18B	84700	broad.mit.edu	37	chr22	26228907	26228907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgttcctgtgcagtttgaCctcccggacccctccccagg	4	10	11	16	1	0	1	0	1	0	0	3	2	3	2	7	3	1	3	7	3	0	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:26228907C>A	ENST00000407587.2	+	16	3172	c.3003C>A	c.(3001-3003)gaC>gaA	p.D1001E	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1001E|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1001E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1001	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGTTTGACCTCCCGGACC	0.507																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3001-3003)gaC>gaA		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							87	89	88					22																	26228907		1884	4092	5976	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26228907C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3003C>A	22.37:g.26228907C>A	ENSP00000386096:p.Asp1001Glu					MYO18B_uc003aca.1_Missense_Mutation_p.D882E|MYO18B_uc010guy.1_Missense_Mutation_p.D882E|MYO18B_uc010guz.1_Missense_Mutation_p.D882E|MYO18B_uc011aka.1_Missense_Mutation_p.D155E|MYO18B_uc011akb.1_Missense_Mutation_p.D514E	p.D1001E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			15	3253	+			1001			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3003C>A		.	.	.	.	.	.	.	.	.	.	C	15.56	2.869542	0.51588	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.19;-2.19;-2.19	4.76	0.0386	0.14201	Myosin head, motor domain (2);	0.058075	0.64402	D	0.000002	D	0.85097	0.5619	L	0.31526	0.94	0.35155	D	0.770147	D;D;D;D	0.89917	0.957;0.966;1.0;0.957	P;P;D;P	0.83275	0.514;0.731;0.996;0.611	T	0.81720	-0.0804	10	0.18276	T	0.48	.	6.7431	0.23447	0.0:0.4373:0.0:0.5627	.	514;1001;1001;1001	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	E	1001	ENSP00000441229:D1001E;ENSP00000334563:D1001E;ENSP00000386096:D1001E	ENSP00000334563:D1001E	D	+	3	2	MYO18B	24558907	0.531000	0.26338	0.995000	0.50966	0.627000	0.37826	-0.706000	0.05047	0.230000	0.21059	0.563000	0.77884	GAC		0.507	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26228907	C	A	26228907	3	1	202	1	0	0	0	0	1	0	0	0	10066	506	18	5	3061	5	MYO18B	22	26228907	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		26228907	25075659	58	14211											
FMR1NB	158521	broad.mit.edu	37	chrX	147088330	147088330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatcatcggggaccaCgagcttcaaatgttttgctc	8	15	8	10	2	3	0	3	0	0	0	5	2	3	1	1	2	2	3	1	2	1	5	rs376382924		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chrX:147088330C>T	ENST00000370467.3	+	3	580	c.506C>T	c.(505-507)aCg>aTg	p.T169M	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	169	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGACCACGAGCTTCAAA	0.368																																						uc004fcm.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(505-507)aCg>aTg		Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.		C	MET/THR	1,3834		0,1,1631,571	182	156	165		506	-8.6	0	X		165	0,6728		0,0,2428,1872	no	missense	FMR1NB	NM_152578.2	81	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	169/256	147088330	1,10562	2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147088330C>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.506C>T	X.37:g.147088330C>T	ENSP00000359498:p.Thr169Met						p.T169M	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			2	580	+	Acute lymphoblastic leukemia(192;6.56e-05)		169			P-type.		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.506C>T	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	5.088	0.201811	0.09652	2.61E-4	0.0	ENSG00000176988	ENST00000370467	T	0.29917	1.55	5.32	-8.55	0.00908	P-type trefoil (1);	1.785190	0.03628	N	0.237471	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.14200	-1.0481	10	0.42905	T	0.14	-0.2628	0.6082	0.00756	0.3472:0.2163:0.1104:0.3261	.	169	Q8N0W7	FMR1N_HUMAN	M	169	ENSP00000359498:T169M	ENSP00000359498:T169M	T	+	2	0	FMR1NB	146896022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.055000	0.01397	-1.821000	0.01213	-1.140000	0.01884	ACG		0.368	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		T	147088330	C	T	147088330	3	4	202	1	0	0	0	0	1	0	0	0	5961	536	19	1	516	1	FMR1NB	23	147088330	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		147088330	8182230	59	14212											
MTOR	2475	broad.mit.edu	37	chr1	11188183	11188183	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcagtgggtagatgagggCctgagggaaaaacagaagaa	15	6	16	4	0	1	5	1	2	0	3	1	6	1	6	1	3	1	1	1	3	5	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:11188183C>T	ENST00000361445.4	-	43	5987	c.5911G>A	c.(5911-5913)Gcc>Acc	p.A1971T	MTOR_ENST00000376838.1_Splice_Site_p.A176T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1971	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TAGATGAGGGCCTGAGGGAAA	0.458																																						uc001asd.3																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.e43-1		Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.							102	107	105					1																	11188183		2203	4300	6503	SO:0001630	splice_region_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11188183C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5911-1G>A	1.37:g.11188183C>T						MTOR_uc001asc.3_Splice_Site_p.A176_splice	p.A1971_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN			43	6032	-			1971			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5911_splice	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236875	0.95240	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93246	0.6630	10	0.87932	D	0	-21.096	20.063	0.97692	0.0:1.0:0.0:0.0	.	1971	P42345	MTOR_HUMAN	T	1971;176	ENSP00000354558:A1971T;ENSP00000366034:A176T	ENSP00000354558:A1971T	A	-	1	0	MTOR	11110770	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.263000	0.78421	2.735000	0.93741	0.655000	0.94253	GCC		0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation	T	11188183	C	T	11188183	5	4	203	1	0	0	0	0	0	0	1	0	9954	753	26	3	1802	3	MTOR	1	11188183	Splice_Site	SNP	C	TCGA-28-2502-01B-01D-1494-08		11188183	238062438	1	14213											
C1QC	714	broad.mit.edu	37	chr1	22973963	22973963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgatcagattcaacgCggtcctcaccaacccgcagg	10	6	9	16	3	3	2	3	1	0	1	4	2	4	2	4	2	3	1	4	2	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:22973963C>T	ENST00000374639.3	+	3	543	c.425C>T	c.(424-426)gCg>gTg	p.A142V	C1QC_ENST00000374637.1_Missense_Mutation_p.A142V|C1QC_ENST00000374640.4_Missense_Mutation_p.A142V	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	142	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGATTCAACGCGGTCCTCACC	0.567																																					Ovarian(26;671 750 8290 29071 43278)	uc001bgc.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(424-426)gCg>gTg		Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						85	80	82					1																	22973963		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973963C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.425C>T	1.37:g.22973963C>T	ENSP00000363770:p.Ala142Val					C1QC_uc001bga.4_Missense_Mutation_p.A142V	p.A142V	NM_172369	NP_758957	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	2	528	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	142			C1q.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.425C>T	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	7.130	0.579626	0.13686	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.75154	-0.91;-0.91;-0.91	4.74	-2.41	0.06562	Tumour necrosis factor-like (2);Complement C1q protein (4);	2.595320	0.02172	N	0.059739	T	0.38612	0.1047	N	0.01048	-1.04	0.09310	N	1	P	0.36065	0.535	B	0.30251	0.113	T	0.29150	-1.0021	10	0.37606	T	0.19	.	1.0667	0.01612	0.2091:0.2302:0.3319:0.2288	.	142	P02747	C1QC_HUMAN	V	142	ENSP00000363771:A142V;ENSP00000363770:A142V;ENSP00000363768:A142V	ENSP00000363768:A142V	A	+	2	0	C1QC	22846550	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.360000	0.02600	-0.921000	0.03794	0.561000	0.74099	GCG		0.567	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		T	22973963	C	T	22973963	3	4	203	1	0	0	0	0	1	0	0	0	1957	768	27	1	431	1	C1QC	1	22973963	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	11785780	22973963	226276658	2	14214											
SPOCD1	90853	broad.mit.edu	37	chr1	32279589	32279589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgggttcctctggcCtgtcctggtgggagttgtct	1	14	16	10	0	2	0	0	0	2	0	4	1	4	1	3	5	0	3	3	5	0	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:32279589C>T	ENST00000360482.2	-	2	1475	c.1346G>A	c.(1345-1347)aGg>aAg	p.R449K	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R449K|SPOCD1_ENST00000373648.2_Missense_Mutation_p.R449K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	449					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTCTGGCCTGTCCTGGTG	0.567																																						uc001bts.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1345-1347)aGg>aAg		Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.							75	77	76					1																	32279589		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32279589C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1346G>A	1.37:g.32279589C>T	ENSP00000353670:p.Arg449Lys					SPOCD1_uc001btu.3_Missense_Mutation_p.R449K|SPOCD1_uc001btv.3_Intron	p.R449K	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	1	1404	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	449					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1346G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	6.454	0.451911	0.12283	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.29917	1.98;1.55;1.98	3.8	0.232	0.15381	.	.	.	.	.	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35226	-0.9797	9	0.05351	T	0.99	0.3001	5.8581	0.18730	0.0:0.3792:0.0:0.6208	.	449;449	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	K	449	ENSP00000353670:R449K;ENSP00000362752:R449K;ENSP00000435851:R449K	ENSP00000353670:R449K	R	-	2	0	SPOCD1	32052176	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.060000	0.14342	0.014000	0.14944	-0.391000	0.06502	AGG		0.567	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32279589	C	T	32279589	3	4	203	1	0	0	0	0	1	0	0	0	15077	681	24	3	2364	3	SPOCD1	1	32279589	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	9305626	32279589	216971032	3	14215											
LPAR3	23566	broad.mit.edu	37	chr1	85331474	85331474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcagtcaagctactGtccagaagcccctgacggag	12	5	13	11	1	1	2	1	1	0	1	2	4	2	4	3	2	4	2	3	2	4	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85331474G>A	ENST00000440886.1	-	1	368	c.330C>T	c.(328-330)gaC>gaT	p.D110D	LPAR3_ENST00000370611.3_Silent_p.D110D|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	110					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAAGCTACTGTCCAGAAGCC	0.493																																						uc001dkl.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(328-330)gaC>gaT		Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.							177	184	181					1																	85331474		2203	4300	6503	SO:0001819	synonymous_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331474G>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.330C>T	1.37:g.85331474G>A						LPAR3_uc009wcj.1_Silent_p.D110D	p.D110D	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			0	369	-			110					A0AVA3	Silent	SNP	ENST00000440886.1	37	c.330C>T	CCDS700.1																																																																																				0.493	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		A	85331474	G	A	85331474	2	1	203	1	0	0	0	0	0	0	0	1	8906	1368	48	3		3	LPAR3	1	85331474	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	53051885	85331474	163919147	4	14216											
WDR63	126820	broad.mit.edu	37	chr1	85564213	85564213	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttttaatatttttcagCctatgtttctccttgaaccg	7	21	4	9	1	3	1	1	1	2	0	4	1	3	1	3	0	2	1	3	0	4	9			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85564213C>G	ENST00000294664.6	+	13	1531	c.1351C>G	c.(1351-1353)Cct>Gct	p.P451A	WDR63_ENST00000370596.1_Splice_Site_p.P412A|WDR63_ENST00000326813.8_Splice_Site_p.P412A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	451										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTTTTCAGCCTATGTTTCT	0.318																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.e13-1		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							81	88	86					1																	85564213		2203	4299	6502	SO:0001630	splice_region_variant	126820							g.chr1:85564213C>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1351-1C>G	1.37:g.85564213C>G						WDR63_uc009wcl.3_Splice_Site_p.P412_splice	p.P451_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	13	1542	+			451					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1351_splice	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086248	0.36855	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.64618	-0.11;-0.11;-0.11	6.02	6.02	0.97574	WD40 repeat-like-containing domain (1);	0.409093	0.29185	N	0.012882	T	0.42630	0.1211	L	0.48986	1.54	0.47009	D	0.999289	P;B	0.35011	0.48;0.33	B;B	0.31442	0.13;0.057	T	0.37888	-0.9686	9	.	.	.	-19.1443	14.919	0.70822	0.1432:0.8568:0.0:0.0	.	412;451	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	A	412;412;451	ENSP00000359628:P412A;ENSP00000317463:P412A;ENSP00000294664:P451A	.	P	+	1	0	WDR63	85336801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.469000	0.53093	2.857000	0.98124	0.650000	0.86243	CCT		0.318	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Missense_Mutation	G	85564213	C	G	85564213	5	3	203	1	0	0	0	0	0	0	1	0	17311	753	26	5	1397	5	WDR63	1	85564213	Splice_Site	SNP	C	TCGA-28-2502-01B-01D-1494-08	232739	85564213	163686408	5	14217											
ADAM30	11085	broad.mit.edu	37	chr1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactctggatatccaacgcGtattttgttaaaatctgtcc	11	15	6	9	2	2	0	0	0	2	0	4	1	4	1	2	1	2	2	2	1	6	6	rs200088734		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:120438173G>A	ENST00000369400.1	-	1	945	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATCCAACGCGTATTTTGTTA	0.358																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(787-789)Cgc>Tgc		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							71	75	74					1																	120438173		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438173G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.787C>T	1.37:g.120438173G>A	ENSP00000358407:p.Arg263Cys						p.R263C	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	975	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	263			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.787C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305153	0.40795	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10288	2.89	4.59	-4.04	0.04010	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.100920	0.02924	N	0.138395	T	0.07818	0.0196	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	D	0.63488	0.915	T	0.16305	-1.0407	10	0.54805	T	0.06	.	1.2267	0.01934	0.1532:0.3261:0.2621:0.2586	.	263	Q9UKF2	ADA30_HUMAN	C	263	ENSP00000358407:R263C	ENSP00000358407:R263C	R	-	1	0	ADAM30	120239696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.244000	0.02902	-0.640000	0.05495	-0.471000	0.05019	CGC		0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120438173	G	A	120438173	3	1	203	1	0	0	0	0	1	0	0	0	248	1145	40	1	1589	1	ADAM30	1	120438173	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	34873960	120438173	128812448	6	14218											
FLG	2312	broad.mit.edu	37	chr1	152277058	152277058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaccccgggtgtccaCgaatggtgtcctgaccctct	5	11	11	14	2	1	2	0	2	1	0	3	3	3	2	5	2	1	1	5	2	1	1	rs576274425		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:152277058C>T	ENST00000368799.1	-	3	10339	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3435	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGGTGTCCACGAATGGTGTC	0.602									Ichthyosis				C|||	1	0.000199681	0	0	5008	,	,		18804	0		0.001	False		,,,				2504	0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10303-10305)cGt>cAt		Homo sapiens filaggrin (FLG), mRNA.							288	290	289					1																	152277058		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277058C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10304G>A	1.37:g.152277058C>T	ENSP00000357789:p.Arg3435His						p.R3435H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10340	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3435			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10304G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.735	0.700086	0.15106	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	4.17	-8.11	0.01082	.	.	.	.	.	T	0.00496	0.0016	L	0.45581	1.43	0.09310	N	1	B	0.27971	0.196	B	0.17979	0.02	T	0.39461	-0.9613	9	0.41790	T	0.15	0.0252	5.3339	0.15947	0.2074:0.2967:0.0:0.4959	.	3435	P20930	FILA_HUMAN	H	3435	ENSP00000357789:R3435H	ENSP00000357789:R3435H	R	-	2	0	FLG	150543682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.075000	0.00300	-1.891000	0.01109	-0.717000	0.03617	CGT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152277058	C	T	152277058	3	4	203	1	0	0	0	0	1	0	0	0	5922	536	19	1	1885	1	FLG	1	152277058	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	31838885	152277058	96973563	7	14219											
FBLN2	2199	broad.mit.edu	37	chr3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcttccgcattggccccGcgccagccttcacgggggac	6	8	11	16	4	2	0	1	0	1	0	3	1	3	1	5	3	1	1	5	3	1	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622																																						uc011avc.2																			4	Substitution - Missense(4)	p.A1156T(2)|p.A575T(2)	large_intestine(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3466-3468)Gcg>Acg		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							43	48	46					3																	13679189		2154	4245	6399	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679189G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3325G>A	3.37:g.13679189G>A	ENSP00000295760:p.Ala1109Thr					FBLN2_uc011auz.2_Missense_Mutation_p.A1135T|FBLN2_uc011avb.2_Missense_Mutation_p.A1109T|FBLN2_uc011ava.2_Missense_Mutation_p.A1156T	p.A1156T	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3848	+			1109			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3466G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13679189	G	A	13679189	3	1	203	1	0	0	0	0	1	0	0	0	5699	1087	38	1	2222	1	FBLN2	3	13679189	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		13679189	184343241	8	14220											
SCN10A	6336	broad.mit.edu	37	chr3	38833608	38833608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaatagccacagggcccGagtggcactaaaccgggaaa	14	4	12	11	2	0	1	0	1	0	0	0	3	0	2	3	3	2	1	3	3	5	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:38833608G>A	ENST00000449082.2	-	2	321	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	108					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACAGGGCCCGAGTGGCACTA	0.463																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(322-324)Cgg>Tgg		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						200	195	197					3																	38833608		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38833608G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.322C>T	3.37:g.38833608G>A	ENSP00000390600:p.Arg108Trp						p.R108W	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	322	-			108					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.322C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140343	0.37825	.	.	ENSG00000185313	ENST00000449082	D	0.96200	-3.94	4.2	3.31	0.37934	.	0.735079	0.13526	N	0.381307	D	0.91216	0.7232	L	0.41415	1.275	0.24889	N	0.992179	B	0.11235	0.004	B	0.08055	0.003	D	0.83766	0.0217	10	0.46703	T	0.11	.	6.8432	0.23975	0.0914:0.0:0.7351:0.1735	.	108	Q9Y5Y9	SCNAA_HUMAN	W	108	ENSP00000390600:R108W	ENSP00000390600:R108W	R	-	1	2	SCN10A	38808612	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.043000	0.13971	1.095000	0.41419	0.650000	0.86243	CGG		0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38833608	G	A	38833608	3	1	203	1	0	0	0	0	1	0	0	0	13912	1057	37	2	5652	2	SCN10A	3	38833608	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	25154419	38833608	159188822	9	14221											
CCDC71	64925	broad.mit.edu	37	chr3	49200468	49200468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttttgcctcctcagcccTtttcctcttctgcccaacag	5	15	4	17	0	4	0	1	0	3	0	6	0	6	0	5	0	4	0	5	0	1	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:49200468T>C	ENST00000321895.6	-	2	1280	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	392										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCTCAGCCCTTTTCCTCTTC	0.572																																						uc003cwg.4																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(1174-1176)Agg>Ggg		Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.							157	159	158					3																	49200468		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200468T>C	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.1174A>G	3.37:g.49200468T>C	ENSP00000319006:p.Arg392Gly					CCDC71_uc021wxs.1_Missense_Mutation_p.R392G	p.R392G	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1312	-			392					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.1174A>G	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502529	0.64298	.	.	ENSG00000177352	ENST00000321895	T	0.35048	1.33	5.76	5.76	0.90799	.	0.183316	0.38058	N	0.001827	T	0.35451	0.0932	L	0.53249	1.67	0.27622	N	0.94831	P	0.41848	0.763	B	0.42422	0.387	T	0.45101	-0.9284	10	0.56958	D	0.05	-13.0661	7.882	0.29627	0.0:0.0708:0.1379:0.7913	.	392	Q8IV32	CCD71_HUMAN	G	392	ENSP00000319006:R392G	ENSP00000319006:R392G	R	-	1	2	CCDC71	49175472	0.619000	0.27059	1.000000	0.80357	0.991000	0.79684	3.307000	0.51888	2.185000	0.69588	0.460000	0.39030	AGG		0.572	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		C	49200468	T	C	49200468	3	2	203	1	0	0	0	0	1	0	0	0	2844	1608	56	4	233	4	CCDC71	3	49200468	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	10366860	49200468	148821962	10	14222											
GPR128	84873	broad.mit.edu	37	chr3	100365559	100365559	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatactactaattttgcTgtattaatggtaaggatata	15	15	6	5	0	0	0	0	0	0	0	0	1	0	1	1	2	4	3	1	2	9	10			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:100365559T>C	ENST00000273352.3	+	10	1525	c.1257T>C	c.(1255-1257)gcT>gcC	p.A419A	GPR128_ENST00000475887.1_Silent_p.A124A|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	419	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTAATTTTGCTGTATTAATGG	0.413																																					Pancreas(87;185 1975 7223 18722)	uc003duc.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1255-1257)gcT>gcC		Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.							83	85	84					3																	100365559		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365559T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1257T>C	3.37:g.100365559T>C						GPR128_uc011bhc.2_Silent_p.A120A	p.A419A	NM_032787	NP_116176	Q96K78	GP128_HUMAN			9	1525	+			419			GPS.		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1257T>C	CCDS2938.1																																																																																				0.413	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			C	100365559	T	C	100365559	2	2	203	1	0	0	0	0	0	0	0	1	6641	1567	55	4		4	GPR128	3	100365559	Silent	SNP	T	TCGA-28-2502-01B-01D-1494-08	51165091	100365559	97656871	11	14223											
PHLDB2	90102	broad.mit.edu	37	chr3	111603461	111603461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcgctcctggccatGtggaatggaagttccctgag	6	11	13	11	1	1	1	0	1	1	0	4	3	3	3	3	4	0	3	3	4	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:111603461G>C	ENST00000431670.2	+	2	948	c.537G>C	c.(535-537)atG>atC	p.M179I	PHLDB2_ENST00000477695.1_Missense_Mutation_p.M179I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M179I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M206I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M179I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M179I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M179I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	179						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCTGGCCATGTGGAATGGAA	0.537																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(535-537)atG>atC		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							59	59	59					3																	111603461		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603461G>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.537G>C	3.37:g.111603461G>C	ENSP00000405405:p.Met179Ile					PHLDB2_uc003dyc.3_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.3_Missense_Mutation_p.M179I|PHLDB2_uc003dye.4_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.4_Missense_Mutation_p.M179I	p.M179I	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			1	948	+			179					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.537G>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169035	0.38315	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.43;1.38;1.39;1.43;1.38	5.61	4.68	0.58851	.	0.331919	0.39210	N	0.001426	T	0.29524	0.0736	L	0.38531	1.155	0.45704	D	0.998613	B;B;B;B;B	0.17667	0.0;0.023;0.018;0.0;0.001	B;B;B;B;B	0.16722	0.001;0.007;0.016;0.002;0.002	T	0.04708	-1.0932	10	0.42905	T	0.14	.	12.8855	0.58040	0.0:0.0:0.8375:0.1625	.	179;179;179;179;206	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	206;206;179;179;179;179;179;179;179	ENSP00000377500:M206I;ENSP00000405405:M179I;ENSP00000405292:M179I;ENSP00000418296:M179I;ENSP00000377502:M179I;ENSP00000418319:M179I	ENSP00000352764:M206I	M	+	3	0	PHLDB2	113086151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.219000	0.58561	2.813000	0.96785	0.655000	0.94253	ATG		0.537	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		C	111603461	G	C	111603461	3	2	203	1	0	0	0	0	1	0	0	0	11852	1377	48	5	624	5	PHLDB2	3	111603461	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	11237902	111603461	86418969	12	14224											
CASR	846	broad.mit.edu	37	chr3	122003132	122003132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggccctgggcttcctgatCggctacacctgcctgctggc	4	10	12	15	1	0	1	0	1	0	0	2	1	1	1	4	4	3	3	4	4	1	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:122003132C>T	ENST00000490131.1	+	7	2703	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.I787I|CASR_ENST00000296154.5_Silent_p.I777I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	777					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTTCCTGATCGGCTACACCT	0.582																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2359-2361)atC>atT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						43	40	41					3																	122003132		2202	4300	6502	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003132C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2331C>T	3.37:g.122003132C>T						CASR_uc003eev.4_Silent_p.I777I	p.I787I	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	2799	+			777					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2361C>T	CCDS3010.1																																																																																				0.582	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122003132	C	T	122003132	2	4	203	1	0	0	0	0	0	0	0	1	2682	874	31	2		2	CASR	3	122003132	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	10399671	122003132	76019298	13	14225											
UGT2B28	54490	broad.mit.edu	37	chr4	70146911	70146911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtgtgatatgaagaaGtgggatcagttttacagtga	14	12	12	3	0	1	4	1	3	0	1	1	5	1	5	0	1	1	1	0	1	5	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:70146911G>T	ENST00000335568.5	+	1	695	c.693G>T	c.(691-693)aaG>aaT	p.K231N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.K231N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	231					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATATGAAGAAGTGGGATCAGT	0.323																																						uc003hej.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(691-693)aaG>aaT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						49	57	54					4																	70146911		2020	4212	6232	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146911G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.693G>T	4.37:g.70146911G>T	ENSP00000334276:p.Lys231Asn					UGT2B28_uc010ihr.3_Missense_Mutation_p.K231N	p.K231N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			0	695	+			231					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.693G>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.786	-0.760466	0.02996	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.61742	0.08;0.08	2.18	-4.36	0.03645	.	1.198360	0.06548	U	0.744543	T	0.36799	0.0980	N	0.26042	0.785	0.09310	N	0.999999	B;B	0.21606	0.058;0.005	B;B	0.25987	0.065;0.02	T	0.13442	-1.0509	10	0.29301	T	0.29	.	1.1553	0.01794	0.236:0.1258:0.1571:0.4812	.	231;231	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	N	231	ENSP00000334276:K231N;ENSP00000427399:K231N	ENSP00000334276:K231N	K	+	3	2	UGT2B28	70181500	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-4.590000	0.00211	-2.140000	0.00806	0.184000	0.17185	AAG		0.323	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		T	70146911	G	T	70146911	3	4	203	1	0	0	0	0	1	0	0	0	16957	1020	36	5	695	5	UGT2B28	4	70146911	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		70146911	121007365	14	14226											
INTS12	57117	broad.mit.edu	37	chr4	106604288	106604288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaccagtcaaacccaCaggtttctggttagctgacg	10	9	10	12	1	2	2	1	1	1	1	2	2	2	2	3	2	3	3	3	2	2	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:106604288C>T	ENST00000451321.2	-	7	1470	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	INTS12_ENST00000394735.1_Missense_Mutation_p.V331M|INTS12_ENST00000340139.5_Missense_Mutation_p.V331M	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	331	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTCAAACCCACAGGTTTCTGG	0.448																																						uc003hxw.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(991-993)Gtg>Atg		Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.							197	185	189					4																	106604288		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604288C>T		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.991G>A	4.37:g.106604288C>T	ENSP00000415433:p.Val331Met					INTS12_uc010ilr.3_Missense_Mutation_p.V331M	p.V331M	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1249	-			331			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.991G>A	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686563	0.47991	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.54675	0.56;0.56;0.56	5.17	4.33	0.51752	.	0.131208	0.51477	D	0.000100	T	0.34077	0.0885	N	0.24115	0.695	0.42996	D	0.994509	B	0.34372	0.451	B	0.23716	0.048	T	0.21861	-1.0233	10	0.48119	T	0.1	-10.4415	10.9673	0.47421	0.0:0.8491:0.0:0.1509	.	331	Q96CB8	INT12_HUMAN	M	331	ENSP00000378221:V331M;ENSP00000340737:V331M;ENSP00000415433:V331M	ENSP00000340737:V331M	V	-	1	0	INTS12	106823737	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.227000	0.58612	1.176000	0.42840	0.591000	0.81541	GTG		0.448	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		T	106604288	C	T	106604288	3	4	203	1	0	0	0	0	1	0	0	0	7777	478	17	3	401	3	INTS12	4	106604288	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	36457377	106604288	84549988	15	14227											
CDH18	1016	broad.mit.edu	37	chr5	19544080	19544080	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggcatcaatgttgaaaaAtctgtcgtcttcaacattgt	12	15	7	7	1	4	1	2	1	2	0	5	1	4	1	0	1	1	2	0	1	4	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:19544080A>T	ENST00000507958.1	-	11	2278	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CDH18_ENST00000382275.1_Missense_Mutation_p.F430I|CDH18_ENST00000274170.4_Missense_Mutation_p.F430I|CDH18_ENST00000511273.1_Missense_Mutation_p.F430I|CDH18_ENST00000502796.1_Missense_Mutation_p.F430I|CDH18_ENST00000506372.1_Missense_Mutation_p.F430I			Q13634	CAD18_HUMAN	cadherin 18, type 2	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTTGAAAAATCTGTCGTCT	0.353																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1288-1290)Ttt>Att		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							112	106	108					5																	19544080		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544080A>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1288T>A	5.37:g.19544080A>T	ENSP00000425093:p.Phe430Ile					CDH18_uc011cnm.2_Missense_Mutation_p.F430I|CDH18_uc003jgc.3_Missense_Mutation_p.F430I|CDH18_uc021xwu.1_Missense_Mutation_p.F430I	p.F430I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1822	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		430			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1288T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	5.692	0.312215	0.10789	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.458065	0.23323	N	0.049422	T	0.31482	0.0798	N	0.20685	0.6	0.29579	N	0.849329	B;B	0.30361	0.022;0.277	B;B	0.31442	0.102;0.13	T	0.23726	-1.0180	9	.	.	.	.	10.2325	0.43264	0.8336:0.1664:0.0:0.0	.	430;430	B4DHG6;Q13634	.;CAD18_HUMAN	I	430;430;430;430;430;430;376;430	ENSP00000371710:F430I;ENSP00000425093:F430I;ENSP00000274170:F430I;ENSP00000424931:F430I;ENSP00000422138:F430I;ENSP00000427383:F376I;ENSP00000425854:F430I	.	F	-	1	0	CDH18	19579837	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	3.013000	0.49582	2.007000	0.58848	0.383000	0.25322	TTT		0.353	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19544080	A	T	19544080	3	4	203	1	0	0	0	0	1	0	0	0	3103	101	4	5	1104	5	CDH18	5	19544080	Missense_Mutation	SNP	A	TCGA-28-2502-01B-01D-1494-08		19544080	161371180	16	14228											
MAP1B	4131	broad.mit.edu	37	chr5	71490832	71490832	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctgaagccagccgcaaaAccacttcctagcaaatccgt	13	7	7	14	2	1	1	0	1	1	0	3	1	3	1	5	0	4	2	5	0	5	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:71490832A>G	ENST00000296755.7	+	5	1948	c.1650A>G	c.(1648-1650)aaA>aaG	p.K550K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	550					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCGCAAAACCACTTCCTA	0.493																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1648-1650)aaA>aaG		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							40	43	42					5																	71490832		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490832A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1650A>G	5.37:g.71490832A>G						MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	p.K550K	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	1891	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	550					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.1650A>G	CCDS4012.1																																																																																				0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		G	71490832	A	G	71490832	2	3	203	1	0	0	0	0	0	0	0	1	9228	40	2	4		4	MAP1B	5	71490832	Silent	SNP	A	TCGA-28-2502-01B-01D-1494-08	51946752	71490832	109424428	17	14229											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727356	25727356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcactgatatctttgagCgtatagcgagcgaggcatca	10	11	11	9	4	3	2	2	2	1	0	4	4	3	2	0	1	3	2	0	1	3	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:25727356C>T	ENST00000274764.2	+	1	220	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	74					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						TATCTTTGAGCGTATAGCGAG	0.483																																						uc003nfd.3																			0				breast(1)|kidney(1)	2						c.(220-222)Cgt>Tgt		Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.							391	294	327					6																	25727356		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727356C>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"Histones / Replication-dependent"	18730	protein-coding gene	gene with protein product		609904	"H2B histone family, member U, (testis-specific)", "histone 1, H2ba"			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.220C>T	6.37:g.25727356C>T	ENSP00000274764:p.Arg74Cys					HIST1H2AA_uc003nfc.3_5'Flank	p.R74C	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN			0	220	+			74					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.220C>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295265	0.40594	.	.	ENSG00000146047	ENST00000274764	T	0.70282	-0.47	3.16	2.26	0.28386	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	D	0.83161	0.5194	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85168	0.0996	10	0.51188	T	0.08	.	10.9868	0.47526	0.189:0.811:0.0:0.0	.	74	Q96A08	H2B1A_HUMAN	C	74	ENSP00000274764:R74C	ENSP00000274764:R74C	R	+	1	0	HIST1H2BA	25835335	1.000000	0.71417	0.404000	0.26397	0.027000	0.11550	3.820000	0.55693	0.872000	0.35775	0.644000	0.83932	CGT		0.483	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		T	25727356	C	T	25727356	3	4	203	1	0	0	0	0	1	0	0	0	7140	768	27	1	222	1	HIST1H2BA	6	25727356	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		25727356	145387711	18	14230											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184091	26184093	+	In_Frame_Del	DEL	AGA	AGA	-																															gaaggccgtgaccaaggcgcAgaagaaggacggcaagaagc																								rs549755584	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:26184091_26184093delAGA	ENST00000356530.3	+	1	134_136	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ACCAAGGCGCAGAAGAAGGACGG	0.576														3	0.000599042	0	0	5008	,	,		19625	0.001		0	False		,,,				2504	0.002					uc003ngt.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(67-72)cagaag>cag		Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.																																				SO:0001651	inframe_deletion	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184091_26184093delAGA	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.68_70delAGA	6.37:g.26184094_26184096delAGA	ENSP00000348924:p.Lys25del						p.K25del	NM_003523	NP_003517	P62807	H2B1C_HUMAN			0	68_70	+			25					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000356530.3	37	c.68_70delAGA	CCDS4588.1																																																																																				0.576	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		-	26184093	AGA	-	26184091	7	5	203	1	0	1	0	1	0	0	0	0	7144	188	7	0	70	0	HIST1H2BE	6	26184091	In_Frame_Del	DEL	AGA	TCGA-28-2502-01B-01D-1494-08	456735	26184091	144930976	19	14231											
TRIM10	10107	broad.mit.edu	37	chr6	30121907	30121907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagacaccctcacctgccGgggctgctccttcagggtca	8	7	11	15	1	3	1	3	0	0	1	4	2	4	1	4	3	2	2	4	3	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:30121907G>A	ENST00000449742.2	-	7	1360	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	429	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CTCACCTGCCGGGGCTGCTCC	0.642																																						uc003npo.3																			0				ovary(1)	1						c.(1285-1287)Cgg>Tgg		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							43	40	41					6																	30121907		1509	2708	4217	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30121907G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1285C>T	6.37:g.30121907G>A	ENSP00000397073:p.Arg429Trp					TRIM10_uc003npn.2_Intron	p.R429W	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			6	1361	-			429			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1285C>T	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963629	0.34659	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.71341	-0.56	6.01	1.72	0.24424	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.261850	0.05437	N	0.547066	T	0.74473	0.3721	M	0.88842	2.985	0.09310	N	0.999998	D	0.71674	0.998	P	0.54210	0.745	T	0.60301	-0.7290	10	0.62326	D	0.03	.	11.2666	0.49114	0.0678:0.0:0.6132:0.319	.	429	Q9UDY6	TRI10_HUMAN	W	429	ENSP00000397073:R429W	ENSP00000365896:R429W	R	-	1	2	TRIM10	30229886	0.001000	0.12720	0.323000	0.25347	0.065000	0.16274	-0.298000	0.08265	0.125000	0.18397	-0.726000	0.03593	CGG		0.642	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			A	30121907	G	A	30121907	3	1	203	1	0	0	0	0	1	0	0	0	16483	1115	39	2	252	2	TRIM10	6	30121907	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	3937816	30121907	140993160	20	14232											
MICB	4277	broad.mit.edu	37	chr6	31474137	31474137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaagacacactatcgCgctatgcaggcagactgcct	13	6	9	13	2	0	3	0	0	0	3	1	3	0	3	2	1	2	3	2	1	4	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:31474137C>T	ENST00000252229.6	+	3	622	c.543C>T	c.(541-543)cgC>cgT	p.R181R	MICB_ENST00000399150.3_Silent_p.R138R|MICB_ENST00000538442.1_Silent_p.R149R	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CACACTATCGCGCTATGCAGG	0.532																																						uc003ntn.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(541-543)cgC>cgT		Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.							76	76	76					6																	31474137		1953	4149	6102	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474137C>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.543C>T	6.37:g.31474137C>T						MICB_uc011dnm.2_Silent_p.R149R|MICB_uc021yuq.1_Silent_p.R149R|MICB_uc003nto.4_Silent_p.R138R	p.R181R	NM_005931	NP_005922	Q29980	MICB_HUMAN			2	659	+			181						Silent	SNP	ENST00000252229.6	37	c.543C>T	CCDS43449.1																																																																																				0.532	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		T	31474137	C	T	31474137	2	4	203	1	0	0	0	0	0	0	0	1	9575	755	27	1		1	MICB	6	31474137	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	1352230	31474137	139640930	21	14233											
MEP1A	4224	broad.mit.edu	37	chr6	46797155	46797155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaagaggcagccctactgGagtctcggattctttaccca	9	9	11	12	2	2	1	0	0	2	1	3	4	2	4	2	4	3	1	2	4	3	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46797155G>A	ENST00000230588.4	+	10	1000	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	331	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCCTACTGGAGTCTCGGAT	0.532																																						uc011dwh.1																			0		p.V359I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1075-1077)Gag>Aag		Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.							92	99	96					6																	46797155		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46797155G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.991G>A	6.37:g.46797155G>A	ENSP00000230588:p.Glu331Lys					MEP1A_uc010jzh.1_Missense_Mutation_p.E331K|MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	p.E359K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	1083	+			331			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1075G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742160	0.89573	.	.	ENSG00000112818	ENST00000230588	T	0.02140	4.43	5.67	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.090336	0.85682	D	0.000000	T	0.09774	0.0240	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01212	-1.1417	10	0.87932	D	0	-31.4897	14.6657	0.68907	0.0697:0.0:0.9303:0.0	.	359;331	B7ZL91;Q16819	.;MEP1A_HUMAN	K	331	ENSP00000230588:E331K	ENSP00000230588:E331K	E	+	1	0	MEP1A	46905114	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	8.003000	0.88520	1.407000	0.46875	-0.145000	0.13849	GAG		0.532	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		A	46797155	G	A	46797155	3	1	203	1	0	0	0	0	1	0	0	0	9475	1175	41	3	1029	3	MEP1A	6	46797155	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	15323018	46797155	124317912	22	14234											
GPR116	221395	broad.mit.edu	37	chr6	46845996	46845996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgctccaattaacattacCctgactgcagcagttcaaag	12	12	6	11	0	1	1	1	1	0	0	2	1	2	1	2	0	5	4	2	0	4	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46845996C>A	ENST00000283296.7	-	10	1471	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.G395C|GPR116_ENST00000265417.7_Missense_Mutation_p.G395C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	395	Ig-like 2.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTAACATTACCCTGACTGCAG	0.373																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1183-1185)Ggt>Tgt		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							166	153	157					6																	46845996		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46845996C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1183G>T	6.37:g.46845996C>A	ENSP00000283296:p.Gly395Cys					GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	p.G395C	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1472	-			395			Ig-like 2.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1183G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	6.585	0.476233	0.12521	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.27104	1.69;2.04;1.69	6.01	2.37	0.29283	Immunoglobulin-like (1);	1.241570	0.05315	N	0.525513	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.29716	0.106;0.106;0.106	T	0.38672	-0.9650	10	0.49607	T	0.09	0.0075	7.6291	0.28228	0.0:0.2396:0.0:0.7604	.	395;395;395	E9PBS6;A8K0D8;Q8IZF2	.;.;GP116_HUMAN	C	395	ENSP00000283296:G395C;ENSP00000354563:G395C;ENSP00000265417:G395C	ENSP00000265417:G395C	G	-	1	0	GPR116	46953955	0.072000	0.21174	0.028000	0.17463	0.009000	0.06853	0.934000	0.28910	0.177000	0.19895	-0.295000	0.09555	GGT		0.373	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46845996	C	A	46845996	3	1	203	1	0	0	0	0	1	0	0	0	6633	623	22	5	2905	5	GPR116	6	46845996	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	48841	46845996	124269071	23	14235											
SYNE1	23345	broad.mit.edu	37	chr6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagctgccttgttgccGcagaaacactttttctttga	8	15	9	9	1	1	2	0	1	1	1	1	3	1	2	2	0	4	4	2	0	2	6	rs200236760		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:152527476G>A	ENST00000367255.5	-	126	23447	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2140W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7228W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7616W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7616					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)			G|||	1	0.000199681	0	0.0014	5008	,	,		19022	0		0	False		,,,				2504	0					uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22846-22848)Cgg>Tgg		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70	62	65		22633,22846	2.9	1	6		65	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	7545/8750,7616/8798	152527476	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527476G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22846C>T	6.37:g.152527476G>A	ENSP00000356224:p.Arg7616Trp	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2140W|SYNE1_uc003qot.4_Missense_Mutation_p.R7545W|SYNE1_uc003qou.4_Missense_Mutation_p.R7616W|SYNE1_uc003qor.4_Missense_Mutation_p.R516W	p.R7616W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	123	23069	-		Ovarian(120;0.0955)	7616					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22846C>T	CCDS5236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.50	2.553333	0.45487	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58797	0.4;1.32;0.41;0.31;0.4;0.53;2.4;1.49	5.81	2.87	0.33458	.	0.000000	0.49916	D	0.000124	T	0.70150	0.3191	M	0.80183	2.485	0.39897	D	0.973852	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.77710	-0.2486	10	0.87932	D	0	.	15.5823	0.76455	0.0:0.0:0.424:0.576	.	7616;7616;7545;7545	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7616;262;7545;7616;7545;7228;2140;538	ENSP00000356224:R7616W;ENSP00000356226:R262W;ENSP00000396024:R7545W;ENSP00000265368:R7616W;ENSP00000390975:R7545W;ENSP00000341887:R7228W;ENSP00000349276:R2140W;ENSP00000356220:R538W	ENSP00000265368:R7616W	R	-	1	2	SYNE1	152569169	0.959000	0.32827	0.988000	0.46212	0.382000	0.30200	0.791000	0.26915	0.735000	0.32537	0.591000	0.81541	CGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152527476	G	A	152527476	3	1	203	1	0	0	0	0	1	0	0	0	15442	1086	38	1	3704	1	SYNE1	6	152527476	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	105681480	152527476	18587591	24	14236											
UNC93A	54346	broad.mit.edu	37	chr6	167709567	167709567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggactcggggccgcccCgctgtggtctgcacagtgca	4	7	16	14	3	1	0	0	0	1	0	2	1	1	1	3	4	2	4	3	4	0	0	rs202053224		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:167709567C>T	ENST00000230256.3	+	3	492	c.317C>T	c.(316-318)cCg>cTg	p.P106L	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.P106L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGCCGCCCCGCTGTGGTCT	0.557													C|||	1	0.000199681	0	0	5008	,	,		20540	0.001		0	False		,,,				2504	0					uc003qvq.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(316-318)cCg>cTg		Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.																																				SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167709567C>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.317C>T	6.37:g.167709567C>T	ENSP00000230256:p.Pro106Leu					UNC93A_uc003qvr.3_Missense_Mutation_p.P106L	p.P106L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	492	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	106					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.317C>T	CCDS5300.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.64	2.892490	0.52121	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.34859	1.34;1.34;1.34	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);	0.114043	0.64402	D	0.000010	T	0.25232	0.0613	M	0.69823	2.125	0.80722	D	1	P;P	0.50819	0.939;0.55	P;B	0.44696	0.458;0.344	T	0.34675	-0.9819	10	0.02654	T	1	-41.2262	17.8882	0.88863	0.0:1.0:0.0:0.0	.	106;106	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	L	106	ENSP00000421484:P106L;ENSP00000230256:P106L;ENSP00000355794:P106L	ENSP00000230256:P106L	P	+	2	0	UNC93A	167629557	0.998000	0.40836	0.257000	0.24404	0.306000	0.27790	5.033000	0.64146	2.463000	0.83235	0.655000	0.94253	CCG		0.557	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		T	167709567	C	T	167709567	3	4	203	1	0	0	0	0	1	0	0	0	16993	652	23	2	327	2	UNC93A	6	167709567	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	15182091	167709567	3405500	25	14237											
SDK1	221935	broad.mit.edu	37	chr7	4153883	4153883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgtggagcgaggtggTgcggggccggacgcgggagt	4	5	24	8	6	0	0	0	0	0	0	0	4	0	3	2	8	2	0	2	8	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:4153883T>C	ENST00000404826.2	+	25	3939	c.3800T>C	c.(3799-3801)gTg>gCg	p.V1267A	SDK1_ENST00000389531.3_Missense_Mutation_p.V1267A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1267	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGAGGTGGTGCGGGGCCGG	0.637																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3799-3801)gTg>gCg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							23	23	23					7																	4153883		2200	4299	6499	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153883T>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3800T>C	7.37:g.4153883T>C	ENSP00000385899:p.Val1267Ala					SDK1_uc010kso.3_Missense_Mutation_p.V543A	p.V1267A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3939	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1267			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3800T>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.275146	0.23307	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56275	0.47;0.47	5.38	5.38	0.77491	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.179500	0.35495	N	0.003165	T	0.49201	0.1543	M	0.62154	1.92	0.33676	D	0.611561	P;B	0.38335	0.627;0.209	B;B	0.37422	0.249;0.018	T	0.59257	-0.7488	10	0.11794	T	0.64	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	1267;1267	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	A	1267	ENSP00000385899:V1267A;ENSP00000374182:V1267A	ENSP00000374182:V1267A	V	+	2	0	SDK1	4120409	1.000000	0.71417	0.986000	0.45419	0.445000	0.32107	5.800000	0.69108	2.030000	0.59900	0.533000	0.62120	GTG		0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		C	4153883	T	C	4153883	3	2	203	1	0	0	0	0	1	0	0	0	13968	1696	59	4	3898	4	SDK1	7	4153883	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		4153883	154984780	26	14238											
ZNF679	168417	broad.mit.edu	37	chr7	63727109	63727109	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgccttctcctcaacTcttaatactcataagaggat	10	14	5	12	0	4	1	2	0	2	1	5	2	4	2	3	1	3	0	3	1	4	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:63727109T>A	ENST00000421025.1	+	5	1367	c.1098T>A	c.(1096-1098)acT>acA	p.T366T	ZNF679_ENST00000255746.4_Silent_p.T366T	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTCCTCAACTCTTAATACTC	0.378																																						uc003tsx.3																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(1096-1098)acT>acA		Homo sapiens zinc finger protein 679 (ZNF679), mRNA.							62	61	61					7																	63727109		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727109T>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1098T>A	7.37:g.63727109T>A							p.T366T	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			4	1367	+			366						Silent	SNP	ENST00000421025.1	37	c.1098T>A	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63727109	T	A	63727109	2	1	203	1	0	0	0	0	0	0	0	1	18083	1538	54	5		5	ZNF679	7	63727109	Silent	SNP	T	TCGA-28-2502-01B-01D-1494-08	59573226	63727109	95411554	27	14239											
MUC17	140453	broad.mit.edu	37	chr7	100696360	100696360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcgtgggggcaggggtCgtgctgatgctgatcatcct	4	10	17	10	2	1	2	1	2	0	0	4	2	2	2	2	5	2	3	2	5	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:100696360C>T	ENST00000306151.4	+	10	13261	c.13197C>T	c.(13195-13197)gtC>gtT	p.V4399V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4399					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCAGGGGTCGTGCTGATGC	0.587																																						uc003uxp.1																			0		p.G4398G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13195-13197)gtC>gtT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							98	82	87					7																	100696360		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696360C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13197C>T	7.37:g.100696360C>T						MUC17_uc010lho.1_Non-coding_Transcript	p.V4399V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			9	13250	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4399					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13197C>T	CCDS34711.1																																																																																				0.587	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100696360	C	T	100696360	2	4	203	1	0	0	0	0	0	0	0	1	9974	871	31	2		2	MUC17	7	100696360	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	36969251	100696360	58442303	28	14240											
NOBOX	135935	broad.mit.edu	37	chr7	144098530	144098530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccagcatcagccccGgtggcttctccagagactgc	7	8	10	16	1	3	1	1	0	2	1	5	2	3	1	4	2	3	2	4	2	0	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:144098530G>A	ENST00000467773.1	-	4	452	c.453C>T	c.(451-453)acC>acT	p.T151T	NOBOX_ENST00000483238.1_Silent_p.T151T|NOBOX_ENST00000223140.5_Silent_p.T66T	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	151					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CATCAGCCCCGGTGGCTTCTC	0.637																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(451-453)acC>acT		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							22	25	24					7																	144098530		1885	4098	5983	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098530G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.453C>T	7.37:g.144098530G>A							p.T151T	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	453	-	Melanoma(164;0.14)		151					A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.453C>T																																																																																					0.637	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		A	144098530	G	A	144098530	2	1	203	1	0	0	0	0	0	0	0	1	10512	1103	39	2		2	NOBOX	7	144098530	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	43402170	144098530	15040133	29	14241											
CALB1	793	broad.mit.edu	37	chr8	91094855	91094855	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagataatcaccgtcagcgTcgaaatggagccagatctcg	13	7	11	10	4	3	2	2	0	1	2	5	5	3	3	2	1	2	0	2	1	3	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:91094855T>C	ENST00000265431.3	-	1	252	c.71A>G	c.(70-72)gAc>gGc	p.D24G	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	24	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACCGTCAGCGTCGAAATGGAG	0.502																																					Melanoma(46;573 1182 27367 39727 48386)	uc003yel.1																			0				breast(1)|kidney(1)|lung(8)|pancreas(1)	11						c.(70-72)gAc>gGc		Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.							264	230	242					8																	91094855		2203	4300	6503	SO:0001583	missense	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91094855T>C		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.71A>G	8.37:g.91094855T>C	ENSP00000265431:p.Asp24Gly					CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	p.D24G	NM_004929	NP_004920	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		0	253	-			24			EF-hand 1.		B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	c.71A>G	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471553	0.84533	.	.	ENSG00000104327	ENST00000265431	D	0.90004	-2.6	5.68	5.68	0.88126	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.91818	3.245	0.80722	D	1	D	0.53885	0.963	P	0.54210	0.745	D	0.94947	0.8096	10	0.87932	D	0	-17.1747	13.4413	0.61114	0.0:0.0:0.0:1.0	.	24	P05937	CALB1_HUMAN	G	24	ENSP00000265431:D24G	ENSP00000265431:D24G	D	-	2	0	CALB1	91164031	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.076000	0.64413	2.161000	0.67846	0.460000	0.39030	GAC		0.502	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		C	91094855	T	C	91094855	3	2	203	1	0	0	0	0	1	0	0	0	2573	1667	58	4	758	4	CALB1	8	91094855	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		91094855	55269167	30	14242											
ASAP1	50807	broad.mit.edu	37	chr8	131140283	131140283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcactctgctctccaCggaaggccatggttagggcc	6	8	11	16	2	2	0	0	0	2	0	4	1	3	1	4	4	1	3	4	4	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:131140283C>T	ENST00000518721.1	-	16	1498	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ASAP1_ENST00000357668.1_Missense_Mutation_p.R424H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	424					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTGCTCTCCACGGAAGGCCAT	0.458																																						uc003yta.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1270-1272)cGt>cAt		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							105	95	98					8																	131140283		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131140283C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1271G>A	8.37:g.131140283C>T	ENSP00000429900:p.Arg424His					ASAP1_uc003ysz.2_Missense_Mutation_p.R235H|ASAP1_uc011liw.2_Missense_Mutation_p.R417H	p.R424H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			15	1499	-			424					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1271G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263184	0.59431	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06294	3.32;3.32	5.99	5.11	0.69529	.	0.199482	0.46758	D	0.000264	T	0.06917	0.0176	N	0.19112	0.55	0.80722	D	1	B;B;P	0.46706	0.021;0.021;0.883	B;B;P	0.45538	0.003;0.003;0.484	T	0.22906	-1.0203	10	0.56958	D	0.05	.	13.7539	0.62923	0.0:0.927:0.0:0.073	.	424;424;427	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	H	427;424;424	ENSP00000350297:R424H;ENSP00000429900:R424H	ENSP00000344591:R427H	R	-	2	0	ASAP1	131209465	0.966000	0.33281	0.864000	0.33941	0.830000	0.47004	3.070000	0.50033	2.847000	0.97988	0.655000	0.94253	CGT		0.458	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		T	131140283	C	T	131140283	3	4	203	1	0	0	0	0	1	0	0	0	1010	536	19	1	2178	1	ASAP1	8	131140283	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	40045428	131140283	15223739	31	14243											
ANKS6	203286	broad.mit.edu	37	chr9	101530471	101530471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgggtttctgctccaaTaatccggctgcttttttcct	4	17	9	11	1	1	0	0	0	1	0	4	0	4	0	3	3	2	5	3	3	2	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:101530471T>A	ENST00000353234.4	-	11	2081	c.2034A>T	c.(2032-2034)ttA>ttT	p.L678F	ANKS6_ENST00000540940.1_Missense_Mutation_p.L483F|ANKS6_ENST00000375018.1_Missense_Mutation_p.L678F|ANKS6_ENST00000375019.2_Missense_Mutation_p.L377F			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	678	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCTCCAATAATCCGGCTG	0.582																																						uc004ayu.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2032-2034)ttA>ttT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							52	57	55					9																	101530471		1984	4171	6155	SO:0001583	missense	203286							g.chr9:101530471T>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2034A>T	9.37:g.101530471T>A	ENSP00000297837:p.Leu678Phe					ANKS6_uc004ayv.2_Missense_Mutation_p.L140F|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.L377F	p.L678F	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			10	2055	-		Acute lymphoblastic leukemia(62;0.0527)	678			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2034A>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.484491|3.484491	0.63962|0.63962	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.72835	.|1.59;-0.69;-0.57;1.77	5.88|5.88	-6.0|-6.0	0.02206|0.02206	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	0.999995|0.999995	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.69479	.|0.964;0.922	T|T	0.70802|0.70802	-0.4773|-0.4773	5|10	.|0.72032	.|D	.|0.01	-5.5991|-5.5991	9.9656|9.9656	0.41723|0.41723	0.0:0.5434:0.2456:0.211|0.0:0.5434:0.2456:0.211	.|.	.|678;678	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	F|F	147|377;678;678;483	.|ENSP00000364159:L377F;ENSP00000364158:L678F;ENSP00000297837:L678F;ENSP00000442189:L483F	.|ENSP00000297837:L678F	I|L	-|-	1|3	0|2	ANKS6|ANKS6	100570292|100570292	0.341000|0.341000	0.24801|0.24801	0.000000|0.000000	0.03702|0.03702	0.524000|0.524000	0.34500|0.34500	-0.495000|-0.495000	0.06443|0.06443	-1.145000|-1.145000	0.02858|0.02858	0.459000|0.459000	0.35465|0.35465	ATT|TTA		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		A	101530471	T	A	101530471	3	1	203	1	0	0	0	0	1	0	0	0	692	1403	49	5	601	5	ANKS6	9	101530471	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		101530471	39682960	32	14244											
SMC2	10592	broad.mit.edu	37	chr9	106889054	106889054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtaatggcagctgaggtgGctaaaaataaggtaggattt	15	10	13	3	0	0	1	0	1	0	0	0	2	0	2	0	5	1	5	0	5	7	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:106889054G>A	ENST00000286398.7	+	19	2872	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	SMC2_ENST00000303219.8_Missense_Mutation_p.A862T|SMC2_ENST00000374793.3_Missense_Mutation_p.A862T|SMC2_ENST00000374787.3_Missense_Mutation_p.A862T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	862					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCTGAGGTGGCTAAAAATAA	0.338																																						uc004bbv.3																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2584-2586)Gct>Act		Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.							73	77	76					9																	106889054		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889054G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2584G>A	9.37:g.106889054G>A	ENSP00000286398:p.Ala862Thr					SMC2_uc004bbw.3_Missense_Mutation_p.A862T|SMC2_uc011lvl.2_Missense_Mutation_p.A862T|SMC2_uc004bbx.3_Missense_Mutation_p.A862T|SMC2_uc004bby.3_5'Flank	p.A862T	NM_001042551	NP_006435	O95347	SMC2_HUMAN			18	2872	+			862					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2584G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958333	0.34565	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.09	4.19	0.49359	RecF/RecN/SMC (1);	0.293089	0.38058	N	0.001826	T	0.65984	0.2744	N	0.21508	0.67	0.34327	D	0.687257	B	0.25272	0.122	B	0.29267	0.1	T	0.70063	-0.4975	10	0.37606	T	0.19	-5.9929	12.3484	0.55134	0.0829:0.0:0.9171:0.0	.	862	O95347	SMC2_HUMAN	T	862	ENSP00000286398:A862T;ENSP00000363925:A862T;ENSP00000306152:A862T;ENSP00000363919:A862T	ENSP00000286398:A862T	A	+	1	0	SMC2	105928875	0.855000	0.29742	1.000000	0.80357	0.992000	0.81027	1.286000	0.33273	1.266000	0.44231	0.484000	0.47621	GCT		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			A	106889054	G	A	106889054	3	1	203	1	0	0	0	0	1	0	0	0	14783	1203	42	3	2654	3	SMC2	9	106889054	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	5358583	106889054	34324377	33	14245											
COL27A1	85301	broad.mit.edu	37	chr9	117014903	117014903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatgggacccccaggcGtgcctggacccaaggggtcg	7	5	16	13	2	0	1	0	1	0	0	1	3	0	3	4	5	1	1	4	5	1	0	rs141446597		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:117014903G>A	ENST00000356083.3	+	26	3455	c.3064G>A	c.(3064-3066)Gtg>Atg	p.V1022M		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1022	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCCCAGGCGTGCCTGGACC	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		20806	0		0	False		,,,				2504	0					uc011lxl.2																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3064-3066)Gtg>Atg		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.		G	MET/VAL	0,4406		0,0,2203	146	137	140		3064	4.3	0	9	dbSNP_134	140	3,8597	3.0+/-9.4	0,3,4297	no	missense	COL27A1	NM_032888.2	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1022/1861	117014903	3,13003	2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014903G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3064G>A	9.37:g.117014903G>A	ENSP00000348385:p.Val1022Met					COL27A1_uc004bii.3_Non-coding_Transcript	p.V1022M	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			25	3064	+			1022			Collagen-like 7.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3064G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101800	0.37048	0.0	3.49E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93604	-3.25	5.24	4.33	0.51752	.	.	.	.	.	D	0.84862	0.5566	N	0.21282	0.65	0.09310	N	1	P	0.49358	0.923	B	0.32289	0.143	T	0.75639	-0.3248	9	0.34782	T	0.22	.	11.6088	0.51047	0.0:0.179:0.821:0.0	.	1022	Q8IZC6	CORA1_HUMAN	M	1022	ENSP00000348385:V1022M	ENSP00000348385:V1022M	V	+	1	0	COL27A1	116054724	0.377000	0.25106	0.008000	0.14137	0.951000	0.60555	3.305000	0.51873	1.407000	0.46875	0.561000	0.74099	GTG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	117014903	G	A	117014903	3	1	203	1	0	0	0	0	1	0	0	0	3685	1145	40	1	3166	1	COL27A1	9	117014903	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	10125849	117014903	24198528	34	14246											
PTEN	5728	broad.mit.edu	37	chr10	89690805	89690805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaacttttcttttagttGtgctgaaagacattatgaca	12	18	6	5	0	1	3	0	2	1	1	1	3	1	3	0	0	2	2	0	0	5	8			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:89690805G>A	ENST00000371953.3	+	4	1569	c.212G>A	c.(211-213)tGt>tAt	p.C71Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	71	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71Y(3)|p.Y27fs*1(2)|p.C71fs*6(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTTAGTTGTGCTGAAAGA	0.303		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(6)|Substitution - Missense(3)	p.0?(37)|p.L70fs*7(8)|p.?(6)|p.C71Y(6)|p.R55fs*1(5)|p.C71fs*6(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L70P(1)|p.L70F(1)|p.C71W(1)|p.R55_L70>S(1)|p.F56fs*2(1)|p.C71fs*28(1)	prostate(16)|central_nervous_system(15)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(211-213)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							73	69	70					10																	89690805		2202	4293	6495	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690805G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.212G>A	10.37:g.89690805G>A	ENSP00000361021:p.Cys71Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C71Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1244	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	71		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.212G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856167	0.91355	.	.	ENSG00000171862	ENST00000371953	D	0.98512	-4.97	5.62	5.62	0.85841	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98521	1.0623	9	.	.	.	-8.6451	20.0185	0.97487	0.0:0.0:1.0:0.0	.	71	P60484	PTEN_HUMAN	Y	71	ENSP00000361021:C71Y	.	C	+	2	0	PTEN	89680785	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	TGT		0.303	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89690805	G	A	89690805	3	1	203	1	0	0	0	0	1	0	0	0	12738	1377	48	3	226	3	PTEN	10	89690805	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		89690805	45843942	35	14247											
CPN1	1369	broad.mit.edu	37	chr10	101835788	101835788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctcgcacagaaactcCgacagctgcagcatcagctc	12	6	7	16	2	1	1	1	0	0	1	5	2	3	1	2	0	6	5	2	0	2	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:101835788C>T	ENST00000370418.3	-	2	551	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	100	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACAGAAACTCCGACAGCTGCA	0.582																																						uc001kql.2																			0		p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(298-300)tcG>tcA		Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.							136	113	121					10																	101835788		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835788C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.300G>A	10.37:g.101835788C>T							p.S100S	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	560	-		Colorectal(252;0.234)	100			Catalytic.		B1AP59	Silent	SNP	ENST00000370418.3	37	c.300G>A	CCDS7486.1																																																																																				0.582	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		T	101835788	C	T	101835788	2	4	203	1	0	0	0	0	0	0	0	1	3809	639	23	2		2	CPN1	10	101835788	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	12144983	101835788	33698959	36	14248											
GTF2H1	2965	broad.mit.edu	37	chr11	18369172	18369172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgccatctgcttccaattCtaaatccataaaagagaata	15	12	5	9	0	2	1	0	0	2	1	4	2	4	1	3	0	2	1	3	0	7	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:18369172C>G	ENST00000265963.4	+	8	1035	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GTF2H1_ENST00000524753.4_Missense_Mutation_p.S88C|GTF2H1_ENST00000530496.2_5'UTR|GTF2H1_ENST00000534641.1_Missense_Mutation_p.S176C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S292C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	292				S -> P (in Ref. 2; BAB15621). {ECO:0000305}.	7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCTTCCAATTCTAAATCCATA	0.363								Nucleotide excision repair (NER)																														uc001moi.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(874-876)tCt>tGt	Nucleotide excision repair (NER)	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.							56	54	55					11																	18369172		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369172C>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.875C>G	11.37:g.18369172C>G	ENSP00000265963:p.Ser292Cys					GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C	p.S292C	NM_001142307	NP_005307	P32780	TF2H1_HUMAN			8	1569	+			292	S -> P (in Ref. 2; BAB15621).				B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.875C>G	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019527	0.75275	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.34072	1.8;1.82;1.8;1.38	5.71	5.71	0.89125	.	0.282997	0.41396	D	0.000895	T	0.44477	0.1295	L	0.50333	1.59	0.80722	D	1	P	0.51537	0.946	P	0.49683	0.619	T	0.32981	-0.9886	10	0.56958	D	0.05	-12.1001	16.1334	0.81461	0.0:0.8665:0.1334:0.0	.	292	P32780	TF2H1_HUMAN	C	292;176;292;88	ENSP00000393638:S292C;ENSP00000435375:S176C;ENSP00000265963:S292C;ENSP00000436575:S88C	ENSP00000265963:S292C	S	+	2	0	GTF2H1	18325748	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.935000	0.48963	2.686000	0.91538	0.655000	0.94253	TCT		0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		G	18369172	C	G	18369172	3	3	203	1	0	0	0	0	1	0	0	0	6860	913	32	5	901	5	GTF2H1	11	18369172	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		18369172	116637344	37	14249											
DEPDC7	91614	broad.mit.edu	37	chr11	33049298	33049299	+	Frame_Shift_Del	DEL	TC	TC	-																															ttagaggacctgtgggaaaaTctgagtttaaagcctgccaa																								rs200200424		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:33049298_33049299delTC	ENST00000241051.3	+	3	623_624	c.531_532delTC	c.(529-534)aatctgfs	p.L178fs	DEPDC7_ENST00000311388.3_Frame_Shift_Del_p.L169fs	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	178					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TGTGggaaaatctgagtttaaa	0.376																																						uc001mub.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(529-534)aatctgfs		Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33049298_33049299delTC		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.531_532delTC	11.37:g.33049298_33049299delTC	ENSP00000241051:p.Leu178fs					DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.3_Frame_Shift_Del_p.N168fs	p.N177fs	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN			2	623_624	+			177					G5E941|Q8N602|Q8NCU9|Q9UGK5	Frame_Shift_Del	DEL	ENST00000241051.3	37	c.531_532delTC	CCDS41632.1																																																																																				0.376	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		-	33049299	TC	-	33049298	7	5	203	1	0	1	0	1	0	0	0	0	4444	1432	50	0	591	0	DEPDC7	11	33049298	Frame_Shift_Del	DEL	TC	TCGA-28-2502-01B-01D-1494-08	14680126	33049298	101957218	38	14250											
NUMA1	4926	broad.mit.edu	37	chr11	71729878	71729878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctacccttctcggTgaggagcttgcggttctcag	6	10	11	14	2	2	1	1	1	2	0	4	2	2	2	3	3	4	2	3	3	1	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:71729878T>C	ENST00000393695.3	-	10	1064	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	NUMA1_ENST00000351960.6_Missense_Mutation_p.T245A|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T245A	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCTCGGTGAGGAGCTTG	0.577			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(733-735)Acc>Gcc		Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.							100	93	96					11																	71729878		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729878T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.733A>G	11.37:g.71729878T>C	ENSP00000377298:p.Thr245Ala					NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.2_Missense_Mutation_p.T245A|NUMA1_uc001orp.3_Missense_Mutation_p.T245A|NUMA1_uc001orq.3_Missense_Mutation_p.T245A	p.T245A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			9	905	-			245						Missense_Mutation	SNP	ENST00000393695.3	37	c.733A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616003	0.28801	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.39406	2.34;2.9;2.89;1.67;1.08	5.98	4.86	0.63082	.	0.218091	0.42294	D	0.000725	T	0.15955	0.0384	N	0.04880	-0.145	0.23016	N	0.998424	B;B;B;B;B;B	0.31318	0.222;0.004;0.004;0.007;0.319;0.001	B;B;B;B;B;B	0.26416	0.054;0.009;0.009;0.003;0.069;0.002	T	0.20907	-1.0261	10	0.08599	T	0.76	.	5.8805	0.18852	0.0:0.2414:0.0:0.7586	.	245;245;245;245;245;245	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	A	245	ENSP00000260051:T245A;ENSP00000351851:T245A;ENSP00000377298:T245A;ENSP00000444880:T245A;ENSP00000442936:T245A	ENSP00000260051:T245A	T	-	1	0	NUMA1	71407526	0.777000	0.28628	0.995000	0.50966	0.972000	0.66771	0.809000	0.27168	2.289000	0.77006	0.533000	0.62120	ACC		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			C	71729878	T	C	71729878	3	2	203	1	0	0	0	0	1	0	0	0	10750	1696	59	4	5686	4	NUMA1	11	71729878	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	38680580	71729878	63276638	39	14251											
MMP3	4314	broad.mit.edu	37	chr11	102713433	102713433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggttttcctccacttcGggatgccaggaaaggttctg	6	12	14	9	1	1	0	0	0	1	0	4	2	3	2	3	5	1	2	3	5	1	4	rs151123532		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:102713433G>A	ENST00000299855.5	-	2	576	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	107					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CCTCCACTTCGGGATGCCAGG	0.473																																						uc001phj.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(319-321)cCg>cTg		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	68	64	65		320	6.2	0.3	11	dbSNP_134	65	0,8598	1.2+/-3.3	0,0,4299	no	missense	MMP3	NM_002422.3	98	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	107/478	102713433	1,13003	2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713433G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.320C>T	11.37:g.102713433G>A	ENSP00000299855:p.Pro107Leu						p.P107L	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	1	385	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	107					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.320C>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247243	0.39697	2.27E-4	0.0	ENSG00000149968	ENST00000299855	T	0.15256	2.44	6.16	6.16	0.99307	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.298737	0.23389	N	0.048716	T	0.34135	0.0887	L	0.55743	1.74	0.40374	D	0.979378	D	0.76494	0.999	P	0.61477	0.889	T	0.01102	-1.1451	10	0.62326	D	0.03	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	107	P08254	MMP3_HUMAN	L	107	ENSP00000299855:P107L	ENSP00000299855:P107L	P	-	2	0	MMP3	102218643	0.981000	0.34729	0.254000	0.24359	0.040000	0.13550	2.794000	0.47853	2.937000	0.99478	0.650000	0.86243	CCG		0.473	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		A	102713433	G	A	102713433	3	1	203	1	0	0	0	0	1	0	0	0	9666	1116	39	2	1149	2	MMP3	11	102713433	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	30983555	102713433	32293083	40	14252											
KDM5A	5927	broad.mit.edu	37	chr12	416884	416884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgacagaatagtctctagCctgggccttcgagaccgcat	10	9	11	11	2	1	3	0	1	1	2	3	4	1	3	3	1	1	1	3	1	3	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:416884C>T	ENST00000399788.2	-	23	4028	c.3666G>A	c.(3664-3666)agG>agA	p.R1222R	KDM5A_ENST00000382815.4_Silent_p.R1222R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1222					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGTCTCTAGCCTGGGCCTTC	0.478			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3664-3666)agG>agA		Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.							77	77	77					12																	416884		1901	4104	6005	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416884C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3666G>A	12.37:g.416884C>T							p.R1222R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			22	4029	-			1222					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.3666G>A	CCDS41736.1																																																																																				0.478	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		T	416884	C	T	416884	2	4	203	1	0	0	0	0	0	0	0	1	8133	738	26	3		3	KDM5A	12	416884	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08		416884	133435011	41	14253											
RERGL	79785	broad.mit.edu	37	chr12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgactagtttgtggctccCggattctgtagatcagcgct	8	13	11	9	2	2	2	1	1	1	1	3	3	3	3	1	2	1	4	1	2	3	4	rs61757396	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:18237478C>T	ENST00000229002.2	-	5	514	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.R102Q	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	103	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.R103Q(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383													C|||	7	0.00139776	0.0053	0	5008	,	,		17166	0		0	False		,,,				2504	0					uc001rdq.3																			2	Substitution - Missense(2)	p.R103Q(3)	lung(2)	endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(307-309)cGg>cAg		Homo sapiens RERG/RAS-like (RERGL), mRNA.		C	GLN/ARG	19,4387	27.2+/-55.0	0,19,2184	136	137	137		308	4.9	1	12	dbSNP_129	137	0,8600		0,0,4300	yes	missense	RERGL	NM_024730.2	43	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	possibly-damaging	103/206	18237478	19,12987	2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237478C>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.308G>A	12.37:g.18237478C>T	ENSP00000229002:p.Arg103Gln						p.R103Q	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			4	502	-			103			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.308G>A	CCDS8679.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.61	1.397490	0.25205	0.004312	0.0	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.80214	-1.35;-1.35	4.91	4.91	0.64330	.	0.132040	0.52532	D	0.000066	T	0.65964	0.2742	L	0.35249	1.045	0.80722	D	1	B;P	0.37573	0.076;0.6	B;B	0.30316	0.021;0.114	T	0.64097	-0.6487	10	0.12766	T	0.61	.	12.6956	0.57001	0.0:0.9189:0.0:0.0811	rs61757396	102;103	F5H686;Q9H628	.;RERGL_HUMAN	Q	103;102	ENSP00000229002:R103Q;ENSP00000437814:R102Q	ENSP00000229002:R103Q	R	-	2	0	RERGL	18128745	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	2.464000	0.45067	2.660000	0.90430	0.467000	0.42956	CGG		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		T	18237478	C	T	18237478	3	4	203	1	0	0	0	0	1	0	0	0	13233	652	23	2	317	2	RERGL	12	18237478	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	17820594	18237478	115614417	42	14254											
LMO7	4008	broad.mit.edu	37	chr13	76301190	76301190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataagcttaaacctggcGtcattaagaagatcaataga	17	11	7	6	1	2	3	2	0	0	3	2	3	2	3	1	1	2	1	1	1	8	5	rs140368500		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:76301190G>A	ENST00000341547.4	+	4	1582	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.V108I|LMO7_ENST00000377534.3_Missense_Mutation_p.V108I	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V108I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCTGGCGTCATTAAGAA	0.303													G|||	1	0.000199681	8e-04	0	5008	,	,		17245	0		0	False		,,,				2504	0					uc021rkq.1																			1	Substitution - Missense(1)	p.V108I(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(166-168)Gtc>Atc		Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.		G	ILE/VAL	0,4406		0,0,2203	84	78	80		322	-8	0	13	dbSNP_134	80	2,8596	2.2+/-6.3	0,2,4297	yes	missense	LMO7	NM_005358.5	29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		108/1350	76301190	2,13002	2203	4299	6502	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76301190G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.322G>A	13.37:g.76301190G>A	ENSP00000342112:p.Val108Ile					LMO7_uc010thv.2_Missense_Mutation_p.V108I|LMO7_uc001vjt.1_Missense_Mutation_p.V56I	p.V56I	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	2	501	+		Breast(118;0.0992)	108			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.166G>A	CCDS9454.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.765	0.142174	0.09083	0.0	2.33E-4	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.23	-7.99	0.01131	.	1.050650	0.07501	N	0.907249	T	0.25082	0.0609	N	0.01122	-1.005	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.003	T	0.47509	-0.9112	10	0.11182	T	0.66	.	18.9369	0.92589	0.879:0.0:0.121:0.0	.	108;56	Q8WWI1-3;F8J2B5	.;.	I	108;108;108;56	ENSP00000342112:V108I;ENSP00000349571:V108I;ENSP00000366757:V108I;ENSP00000366719:V56I	ENSP00000342112:V108I	V	+	1	0	LMO7	75199191	0.001000	0.12720	0.002000	0.10522	0.758000	0.43043	-0.174000	0.09839	-1.935000	0.01049	-1.553000	0.00894	GTC		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		A	76301190	G	A	76301190	3	1	203	1	0	0	0	0	1	0	0	0	8855	1145	40	1	336	1	LMO7	13	76301190	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		76301190	38868688	43	14255											
C14orf39	317761	broad.mit.edu	37	chr14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaaaatattaatacctcGaaatttcataaaaattgttt	20	14	2	5	1	1	0	1	0	0	0	2	1	1	0	1	0	2	1	1	0	10	7			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr14:60938273G>A	ENST00000321731.3	-	6	667	c.508C>T	c.(508-510)Cga>Tga	p.R170*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	170					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249																																						uc001xez.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(508-510)Cga>Tga		Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.							36	38	37					14																	60938273		2201	4276	6477	SO:0001587	stop_gained	317761							g.chr14:60938273G>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.508C>T	14.37:g.60938273G>A	ENSP00000324920:p.Arg170*					C14orf39_uc010apo.3_Intron	p.R170*	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	5	618	-			170					Q08AQ4	Nonsense_Mutation	SNP	ENST00000321731.3	37	c.508C>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811165	0.70797	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.37	-0.057	0.13803	.	0.269718	0.26086	N	0.026436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7089	0.12863	0.4444:0.0:0.4097:0.1459	.	.	.	.	X	170	.	ENSP00000324920:R170X	R	-	1	2	C14orf39	60008026	0.931000	0.31567	0.999000	0.59377	0.802000	0.45316	-0.136000	0.10405	0.232000	0.21100	0.655000	0.94253	CGA		0.249	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		A	60938273	G	A	60938273	4	1	203	1	0	0	0	0	0	1	0	0	1772	1066	37	2	1307	2	C14orf39	14	60938273	Nonsense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		60938273	46411267	44	14256											
RYR3	6263	broad.mit.edu	37	chr15	33855071	33855071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagactccagtcacaagCgagacatagaaggcatggga	16	6	11	8	1	1	3	1	0	0	3	2	5	2	4	1	2	1	1	1	2	5	2	rs370675640		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:33855071C>T	ENST00000389232.4	+	11	1076	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R336*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	336					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGTCACAAGCGAGACATAGA	0.398																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1006-1008)Cga>Tga		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.		C	stop/ARG	1,3741		0,1,1870	80	78	79		1006	2.2	1	15		79	0,8234		0,0,4117	no	stop-gained	RYR3	NM_001036.3		0,1,5987	TT,TC,CC		0.0,0.0267,0.0084		336/4871	33855071	1,11975	1871	4117	5988	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855071C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1006C>T	15.37:g.33855071C>T	ENSP00000373884:p.Arg336*					RYR3_uc010bar.3_Nonsense_Mutation_p.R336*	p.R336*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	10	1076	+		all_lung(180;7.18e-09)	336					O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.1006C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	38	6.735325	0.97801	2.67E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.27	2.21	0.28008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6294	0.62186	0.5558:0.4442:0.0:0.0	.	.	.	.	X	336	.	ENSP00000354735:R336X	R	+	1	2	RYR3	31642363	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	0.884000	0.28214	0.298000	0.22638	0.655000	0.94253	CGA		0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33855071	C	T	33855071	4	4	203	1	0	0	0	0	0	1	0	0	13770	760	27	1	1048	1	RYR3	15	33855071	Nonsense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		33855071	68676321	45	14257											
EXD1	161829	broad.mit.edu	37	chr15	41488149	41488149	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttcaaaattctcttgtcTtctagtatcatctgaagtcc	10	16	4	11	0	6	1	2	1	4	0	8	1	7	1	2	0	0	1	2	0	5	6			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:41488149T>G	ENST00000314992.5	-	6	637	c.447A>C	c.(445-447)gaA>gaC	p.E149D	EXD1_ENST00000458580.2_Missense_Mutation_p.E207D	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	149							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCTTGTCTTCTAGTATCA	0.378																																						uc010ucv.2																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(619-621)gaA>gaC		Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.							99	100	99					15																	41488149		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41488149T>G	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.447A>C	15.37:g.41488149T>G	ENSP00000321029:p.Glu149Asp					EXD1_uc001znk.3_Missense_Mutation_p.E149D	p.E207D	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			7	893	-			149					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.621A>C	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926924	0.73327	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.66815	-0.23;-0.23	5.65	3.38	0.38709	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.75085	2.285	0.37896	D	0.930864	D;D	0.76494	0.999;0.997	D;D	0.71184	0.972;0.953	T	0.79227	-0.1890	10	0.59425	D	0.04	-1.2861	8.0479	0.30559	0.0:0.1598:0.0:0.8402	.	207;149	B7Z839;Q8NHP7	.;EXD1_HUMAN	D	149;207	ENSP00000321029:E149D;ENSP00000415056:E207D	ENSP00000321029:E149D	E	-	3	2	EXD1	39275441	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.070000	0.30653	0.985000	0.38656	0.379000	0.24179	GAA		0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		G	41488149	T	G	41488149	3	3	203	1	0	0	0	0	1	0	0	0	5297	1606	56	5	1117	5	EXD1	15	41488149	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	7633078	41488149	61043243	46	14258											
CLCN7	1186	broad.mit.edu	37	chr16	1507256	1507256	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaagatttcaactcaccTtgaaatctcgtttcagtgac	13	12	5	11	1	4	3	3	2	1	1	5	3	4	3	1	0	1	1	1	0	3	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:1507256T>C	ENST00000382745.4	-	9	1426	c.821A>G	c.(820-822)aAg>aGg	p.K274R	CLCN7_ENST00000262318.8_Splice_Site_p.K250R|CLCN7_ENST00000448525.1_Splice_Site_p.K250R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	274					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.e9+1		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							111	99	103					16																	1507256		2198	4300	6498	SO:0001630	splice_region_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507256T>C	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.822+1A>G	16.37:g.1507256T>C						CLCN7_uc002clw.2_Splice_Site_p.K250_splice	p.K274_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN			9	932	-		Hepatocellular(780;0.0893)	274					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.822_splice	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	T	7.723	0.697624	0.15106	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93659	-3.26;-3.26	5.39	4.29	0.51040	Chloride channel, core (2);	0.044123	0.85682	D	0.000000	T	0.81527	0.4841	N	0.04508	-0.205	0.80722	D	1	B;B	0.24426	0.005;0.103	B;B	0.25614	0.021;0.062	T	0.73332	-0.4016	10	0.07175	T	0.84	-48.0749	9.9049	0.41370	0.0:0.0814:0.0:0.9186	.	250;274	E9PDB9;P51798	.;CLCN7_HUMAN	R	250;227;274;216	ENSP00000410907:K250R;ENSP00000372193:K274R	ENSP00000262318:K227R	K	-	2	0	CLCN7	1447257	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	4.807000	0.62576	0.886000	0.36113	0.459000	0.35465	AAG		0.592	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	Missense_Mutation	C	1507256	T	C	1507256	5	2	203	1	0	0	0	0	0	0	1	0	3468	1623	56	4	1664	4	CLCN7	16	1507256	Splice_Site	SNP	T	TCGA-28-2502-01B-01D-1494-08		1507256	88847497	47	14259											
MKL2	57496	broad.mit.edu	37	chr16	14234551	14234551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagagtgaagctgtggctCatgaattccaggaactctcc	10	10	10	11	0	3	3	2	2	1	1	5	4	4	4	2	2	2	2	2	2	3	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:14234551C>G	ENST00000574045.1	+	3	243	c.88C>G	c.(88-90)Cat>Gat	p.H30D	MKL2_ENST00000318282.5_Missense_Mutation_p.H30D|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.H30D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGTGGCTCATGAATTCCA	0.488																																						uc010uza.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(88-90)Cat>Gat		Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.							141	119	126					16																	14234551		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14234551C>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.88C>G	16.37:g.14234551C>G	ENSP00000459205:p.His30Asp					MKL2_uc002dcg.3_Missense_Mutation_p.H30D	p.H30D	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			2	243	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	37	c.88C>G	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350460	0.61183	.	.	ENSG00000186260	ENST00000318282	.	.	.	5.15	4.2	0.49525	.	.	.	.	.	T	0.41926	0.1180	N	0.19112	0.55	0.80722	D	1	P;P	0.47677	0.743;0.899	B;P	0.46825	0.328;0.528	T	0.15925	-1.0420	8	0.23891	T	0.37	.	12.4783	0.55827	0.0:0.9182:0.0:0.0818	.	30;30	B4DGT8;Q9ULH7-4	.;.	D	30	.	ENSP00000339086:H30D	H	+	1	0	MKL2	14142052	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	3.589000	0.53972	1.167000	0.42706	0.650000	0.86243	CAT		0.488	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048		G	14234551	C	G	14234551	3	3	203	1	0	0	0	0	1	0	0	0	9602	826	29	5	90	5	MKL2	16	14234551	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	12727295	14234551	76120202	48	14260											
SETD1A	9739	broad.mit.edu	37	chr16	30977133	30977133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgggccgccgccccCtgagtaccccccacctcctc	5	6	8	22	2	0	2	0	2	0	0	2	2	1	2	10	1	1	1	10	1	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:30977133C>G	ENST00000262519.8	+	8	2617	c.1931C>G	c.(1930-1932)cCt>cGt	p.P644R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	644	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1930-1932)cCt>cGt		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							37	35	36					16																	30977133		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977133C>G	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1931C>G	16.37:g.30977133C>G	ENSP00000262519:p.Pro644Arg						p.P644R	NM_014712	NP_055527	O15047	SET1A_HUMAN			7	2617	+			644			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1931C>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409911	0.25465	.	.	ENSG00000099381	ENST00000262519	D	0.95307	-3.67	4.82	3.86	0.44501	.	0.207947	0.41194	D	0.000937	D	0.91402	0.7287	L	0.43923	1.385	0.42281	D	0.992095	B	0.13145	0.007	B	0.09377	0.004	D	0.88848	0.3317	10	0.87932	D	0	.	14.1946	0.65662	0.0:0.849:0.151:0.0	.	644	O15047	SET1A_HUMAN	R	644	ENSP00000262519:P644R	ENSP00000262519:P644R	P	+	2	0	SETD1A	30884634	1.000000	0.71417	0.030000	0.17652	0.627000	0.37826	5.083000	0.64456	1.218000	0.43458	0.655000	0.94253	CCT		0.652	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30977133	C	G	30977133	3	3	203	1	0	0	0	0	1	0	0	0	14130	681	24	5	1957	5	SETD1A	16	30977133	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	16742582	30977133	59377620	49	14261											
NF1	4763	broad.mit.edu	37	chr17	29496924	29496927	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															tttaggttacaggaattaacTgtttgttcagaagacaatgt																										TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:29496924_29496927delTGTT	ENST00000358273.4	+	5	878_881	c.495_498delTGTT	c.(493-498)actgttfs	p.TV165fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.TV165fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TV165fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	165					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.C167fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGAATTAACTGTTTGTTCAGAAG	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.C167fs*10(1)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000948	NF1	D		c.(493-498)actgttfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29496924_29496927delTGTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.495_498delTGTT	17.37:g.29496928_29496931delTGTT	ENSP00000351015:p.Thr165fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T165fs|NF1_uc010csn.2_Intron	p.T165fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	878_881	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	165					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.495_498delTGTT	CCDS42292.1																																																																																				0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29496927	TGTT	-	29496924	7	5	203	1	0	1	0	1	0	0	0	0	10356	1567	55	0	513	0	NF1	17	29496924	Frame_Shift_Del	DEL	TGTT	TCGA-28-2502-01B-01D-1494-08		29496924	51698286	50	14262											
KRT36	8689	broad.mit.edu	37	chr17	39644595	39644595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctcatccaggatcctaCgcaggccgttgatgtcggcc	7	9	11	14	3	2	1	2	1	0	0	5	2	4	2	4	3	2	3	4	3	1	2	rs376301027		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:39644595C>T	ENST00000328119.6	-	3	598	c.599G>A	c.(598-600)cGt>cAt	p.R200H	KRT36_ENST00000393986.2_Missense_Mutation_p.R150H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	200	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGATCCTACGCAGGCCGTT	0.577																																						uc002hwt.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(598-600)cGt>cAt		Homo sapiens keratin 36 (KRT36), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	85	88		599	4.7	1	17		88	0,8600		0,0,4300	no	missense	KRT36	NM_003771.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	200/468	39644595	1,13005	2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644595C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.599G>A	17.37:g.39644595C>T	ENSP00000329165:p.Arg200His						p.R200H	NM_003771	NP_003762	O76013	KRT36_HUMAN			2	599	-		Breast(137;0.000286)	200			Coil 1B.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.599G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173964	0.78452	2.27E-4	0.0	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.43294	0.95;0.95	5.69	4.71	0.59529	Filament (1);	0.000000	0.51477	D	0.000087	T	0.49304	0.1549	L	0.54965	1.715	0.38197	D	0.940074	P	0.45715	0.865	P	0.49561	0.615	T	0.55768	-0.8089	10	0.49607	T	0.09	.	14.9456	0.71029	0.0:0.9304:0.0:0.0696	.	200	O76013	KRT36_HUMAN	H	150;200	ENSP00000377555:R150H;ENSP00000329165:R200H	ENSP00000329165:R200H	R	-	2	0	KRT36	36898121	0.031000	0.19500	0.997000	0.53966	0.936000	0.57629	1.694000	0.37752	1.389000	0.46526	0.563000	0.77884	CGT		0.577	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		T	39644595	C	T	39644595	3	4	203	1	0	0	0	0	1	0	0	0	8473	536	19	1	824	1	KRT36	17	39644595	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	10147671	39644595	41550615	51	14263											
BCAS3	54828	broad.mit.edu	37	chr17	58756885	58756885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactggtggagttgtggttCgcccccaggctgtcacgtaa	6	11	14	10	2	1	0	1	0	0	0	2	1	1	1	2	4	1	5	2	4	2	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:58756885C>T	ENST00000390652.5	+	2	98	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_ENST00000588462.1_Missense_Mutation_p.R23C|BCAS3_ENST00000589222.1_Missense_Mutation_p.R23C|BCAS3_ENST00000407086.3_Missense_Mutation_p.R23C|BCAS3_ENST00000408905.3_Missense_Mutation_p.R23C	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403																																						uc002iyv.4																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(67-69)Cgc>Tgc		Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.							170	170	170					17																	58756885		1889	4119	6008	SO:0001583	missense	54828					nucleus		g.chr17:58756885C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.67C>T	17.37:g.58756885C>T	ENSP00000375067:p.Arg23Cys					BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C	p.R23C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		1	176	+			23						Missense_Mutation	SNP	ENST00000390652.5	37	c.67C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710193	0.68730	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.32988	1.44;1.44;1.43	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.76575	0.876;0.988;0.973;0.983	T	0.52704	-0.8540	10	0.87932	D	0	.	14.7313	0.69383	0.0:1.0:0.0:0.0	.	23;23;23;23	B4E3M9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;BCAS3_HUMAN;.	C	23	ENSP00000375067:R23C;ENSP00000385323:R23C;ENSP00000386173:R23C	ENSP00000353336:R23C	R	+	1	0	BCAS3	56111667	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.646000	0.67916	2.057000	0.61298	0.462000	0.41574	CGC		0.403	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		T	58756885	C	T	58756885	3	4	203	1	0	0	0	0	1	0	0	0	1352	884	31	2	69	2	BCAS3	17	58756885	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	19112290	58756885	22438325	52	14264											
ABCA10	10349	broad.mit.edu	37	chr17	67212489	67212489	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcaaatgtatgtcaatcCccaggagagcctatagtaga	15	8	10	8	0	1	2	1	0	0	2	2	4	2	2	3	1	2	3	3	1	7	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:67212489C>A	ENST00000269081.4	-	8	1450	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G181*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G181*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	181					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATGTCAATCCCCAGGAGAGC	0.368																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(541-543)Gga>Tga		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.							137	141	140					17																	67212489		2203	4300	6503	SO:0001587	stop_gained	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67212489C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.541G>T	17.37:g.67212489C>A	ENSP00000269081:p.Gly181*					ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Nonsense_Mutation_p.G73*	p.G181*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			7	1420	-	Breast(10;6.95e-12)		181					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.541G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	43	9.859351	0.99281	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.2	3.2	0.36748	.	0.000000	0.33854	U	0.004486	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.1341	0.20221	0.0:0.8577:0.0:0.1423	.	.	.	.	X	181	.	ENSP00000269081:G181X	G	-	1	0	ABCA10	64724084	0.933000	0.31639	0.959000	0.39883	0.807000	0.45602	1.400000	0.34577	1.602000	0.50124	0.609000	0.83330	GGA		0.368	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67212489	C	A	67212489	4	1	203	1	0	0	0	0	0	1	0	0	29	632	22	5	4222	5	ABCA10	17	67212489	Nonsense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	8455604	67212489	13982721	53	14265											
KCNJ16	3773	broad.mit.edu	37	chr17	68128849	68128849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgcattggtgattttcgGccaaaccacgtggtagaagg	9	10	14	8	3	0	2	0	1	0	1	1	2	0	2	2	5	1	2	2	5	3	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:68128849G>A	ENST00000589377.1	+	2	784	c.621G>A	c.(619-621)cgG>cgA	p.R207R	KCNJ16_ENST00000392671.1_Silent_p.R207R|KCNJ16_ENST00000283936.1_Silent_p.R207R|KCNJ16_ENST00000392670.1_Silent_p.R207R|KCNJ16_ENST00000586462.1_Silent_p.R246R|KCNJ16_ENST00000585558.1_Silent_p.R242R	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	207					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTGATTTTCGGCCAAACCACG	0.468																																						uc002jiq.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(715-717)cgG>cgA		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.							74	65	68					17																	68128849		2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128849G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.621G>A	17.37:g.68128849G>A						KCNJ16_uc002jin.3_Silent_p.R207R|KCNJ16_uc002jio.3_Silent_p.R207R|KCNJ16_uc002jip.3_Silent_p.R207R|KCNJ16_uc021uch.1_Silent_p.R207R	p.R239R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN			2	857	+	Breast(10;2.96e-09)		207						Silent	SNP	ENST00000589377.1	37	c.717G>A	CCDS11687.1																																																																																				0.468	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		A	68128849	G	A	68128849	2	1	203	1	0	0	0	0	0	0	0	1	8050	1190	42	3		3	KCNJ16	17	68128849	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	916360	68128849	13066361	54	14266											
ZNF556	80032	broad.mit.edu	37	chr19	2877814	2877814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcacgccggagggagaccGtatgagtgcaagcagtgtgg	10	6	17	8	3	0	2	0	1	0	1	0	4	0	3	2	3	3	4	2	3	2	1	rs377206346		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:2877814G>A	ENST00000307635.2	+	4	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_ENST00000586426.1_Silent_p.P285P	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGACCGTATGAGTGCA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21210	0.001		0	False		,,,				2504	0					uc002lwp.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(856-858)ccG>ccA		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		G		0,4406		0,0,2203	61	55	57		858	-4.3	0	19		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF556	NM_024967.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		286/457	2877814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877814G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.858G>A	19.37:g.2877814G>A						ZNF556_uc002lwq.3_Silent_p.P285P	p.P286P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	945	+			286					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.858G>A	CCDS12097.1																																																																																				0.517	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		A	2877814	G	A	2877814	2	1	203	1	0	0	0	0	0	0	0	1	17984	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		2877814	56251169	55	14267											
CCDC105	126402	broad.mit.edu	37	chr19	15132710	15132710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgggcacccaactcccGgaggctgcgcgcctcgcaca	7	4	12	18	5	0	0	0	0	0	0	2	1	1	1	3	3	2	3	3	3	1	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15132710G>A	ENST00000292574.3	+	6	1312	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	410						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCAACTCCCGGAGGCTGCGC	0.632																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1228-1230)ccG>ccA		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							53	59	57					19																	15132710		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132710G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1230G>A	19.37:g.15132710G>A							p.P410P	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			5	1329	+			410					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1230G>A	CCDS12322.1																																																																																				0.632	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15132710	G	A	15132710	2	1	203	1	0	0	0	0	0	0	0	1	2740	1103	39	2		2	CCDC105	19	15132710	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	12254896	15132710	43996273	56	14268											
CYP4F22	126410	broad.mit.edu	37	chr19	15648391	15648391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagtggagccggcaccGtcgcctgctgacacccgcct	7	6	12	16	4	0	2	0	2	0	0	1	3	0	3	5	2	2	2	5	2	1	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15648391G>A	ENST00000269703.3	+	6	666	c.467G>A	c.(466-468)cGt>cAt	p.R156H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R156H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	156						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCCGGCACCGTCGCCTGCTG	0.542																																						uc002nbh.4																			1	Substitution - Missense(1)	p.R156L(2)	lung(1)	endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(466-468)cGt>cAt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.							70	70	70					19																	15648391		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648391G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.467G>A	19.37:g.15648391G>A	ENSP00000269703:p.Arg156His						p.R156H	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			5	634	+			156					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.467G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877794	0.91664	.	.	ENSG00000171954	ENST00000269703	D	0.85629	-2.01	5.27	5.27	0.74061	.	0.059415	0.64402	N	0.000003	D	0.94794	0.8319	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.96288	0.9211	10	0.87932	D	0	.	16.4017	0.83642	0.0:0.0:1.0:0.0	.	156	Q6NT55	CP4FN_HUMAN	H	156	ENSP00000269703:R156H	ENSP00000269703:R156H	R	+	2	0	CYP4F22	15509391	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	9.294000	0.96088	2.475000	0.83589	0.313000	0.20887	CGT		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		A	15648391	G	A	15648391	3	1	203	1	0	0	0	0	1	0	0	0	4189	1145	40	1	481	1	CYP4F22	19	15648391	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	515681	15648391	43480592	57	14269											
FFAR2	2867	broad.mit.edu	37	chr19	35940986	35940986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagctctcccgccggcctCtgtatggagtgattgcagct	7	10	11	13	2	2	1	0	1	2	0	3	2	2	2	3	2	3	4	3	2	2	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:35940986C>T	ENST00000599180.2	+	2	450	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L124L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	124					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGCCGGCCTCTGTATGGAGT	0.577																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(370-372)Ctg>Ttg		Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.							88	78	82					19																	35940986		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940986C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.370C>T	19.37:g.35940986C>T						FFAR2_uc010eea.3_Silent_p.L124L	p.L124L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	450	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		124					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.370C>T	CCDS12461.1																																																																																				0.577	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		T	35940986	C	T	35940986	2	4	203	1	0	0	0	0	0	0	0	1	5828	912	32	3		3	FFAR2	19	35940986	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	20292595	35940986	23187997	58	14270											
MAP4K1	11184	broad.mit.edu	37	chr19	39098515	39098515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttacatgtccacgtcGtcatagtcatcgtcagacga	10	11	7	13	4	4	1	4	0	0	1	7	2	5	1	1	0	1	0	1	0	2	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:39098515G>A	ENST00000591517.1	-	16	1174	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Silent_p.D44D|MAP4K1_ENST00000396857.2_Silent_p.D382D|MAP4K1_ENST00000589130.1_Silent_p.D378D	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	382					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCACGTCGTCATAGTCAT	0.597																																						uc002oix.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1144-1146)gaC>gaT		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.							36	39	38					19																	39098515		2103	4213	6316	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39098515G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1146C>T	19.37:g.39098515G>A						MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.2_Silent_p.D44D	p.D382D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		15	1254	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		382						Silent	SNP	ENST00000591517.1	37	c.1146C>T	CCDS59385.1																																																																																				0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		A	39098515	G	A	39098515	2	1	203	1	0	0	0	0	0	0	0	1	9259	1136	40	1		1	MAP4K1	19	39098515	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	3157529	39098515	20030468	59	14271											
DMPK	1760	broad.mit.edu	37	chr19	46275974	46275974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcagctgctcggcctcCagttccatgggtgtggggcc	5	9	14	13	1	1	0	1	0	0	0	4	0	3	0	4	4	3	4	4	4	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:46275974C>T	ENST00000291270.4	-	10	1394	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000447742.2_Silent_p.L418L|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000343373.4_Silent_p.L433L|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000458663.2_Silent_p.L418L|DMPK_ENST00000595361.1_5'Flank|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Silent_p.L428L|DMPK_ENST00000354227.5_Silent_p.L418L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	423			L -> V (in dbSNP:rs527221). {ECO:0000269|PubMed:1310900, ECO:0000269|PubMed:7905855, ECO:0000269|PubMed:8469976, ECO:0000269|PubMed:8499920}.		cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTCGGCCTCCAGTTCCATGG	0.627																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdi.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1345-1347)ctG>ctA		Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.							43	44	44					19																	46275974		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46275974C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1269G>A	19.37:g.46275974C>T						DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.L334L|DMPK_uc002pdd.1_Silent_p.L433L|DMPK_uc002pde.1_Silent_p.L428L|DMPK_uc002pdg.1_Silent_p.L418L|DMPK_uc002pdf.1_Silent_p.L423L|DMPK_uc002pdh.1_Silent_p.L418L|DMPK_uc010xxt.1_Silent_p.L418L	p.L449L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	10	1533	-		Ovarian(192;0.0308)|all_neural(266;0.112)	433					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1347G>A	CCDS12674.1																																																																																				0.627	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		T	46275974	C	T	46275974	2	4	203	1	0	0	0	0	0	0	0	1	4584	581	21	3		3	DMPK	19	46275974	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	7177459	46275974	12853009	60	14272											
ZNF831	128611	broad.mit.edu	37	chr20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagtccgagggcgccGggggcggcctcctggaggaa	6	4	18	13	4	1	1	1	0	0	1	3	4	3	3	5	6	0	0	5	6	1	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr20:57766702G>A	ENST00000371030.2	+	1	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	210							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677																																						uc002yan.3																			0		p.A209V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(628-630)Ggg>Agg		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							29	36	33					20																	57766702		1887	4098	5985	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766702G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.628G>A	20.37:g.57766702G>A	ENSP00000360069:p.Gly210Arg						p.G210R	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	628	+	all_lung(29;0.0085)		210					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.628G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458170	0.26161	.	.	ENSG00000124203	ENST00000371030	T	0.05199	3.48	4.68	2.71	0.32032	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	B	0.32762	0.152	T	0.38090	-0.9677	9	0.66056	D	0.02	-4.5597	9.256	0.37584	0.1733:0.0:0.8267:0.0	.	210	Q5JPB2	ZN831_HUMAN	R	210	ENSP00000360069:G210R	ENSP00000360069:G210R	G	+	1	0	ZNF831	57200097	0.941000	0.31946	0.006000	0.13384	0.064000	0.16182	1.574000	0.36482	0.660000	0.30964	0.561000	0.74099	GGG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57766702	G	A	57766702	3	1	203	1	0	0	0	0	1	0	0	0	18182	1116	39	2	630	2	ZNF831	20	57766702	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		57766702	5258818	61	14273											
IFNGR2	3460	broad.mit.edu	37	chr21	34799266	34799266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaggttctcctctccctTtgacatcgctgatacctcca	7	13	5	16	1	3	2	1	2	2	0	7	2	4	2	4	1	1	2	4	1	1	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr21:34799266T>C	ENST00000290219.6	+	4	1136	c.488T>C	c.(487-489)tTt>tCt	p.F163S	IFNGR2_ENST00000381995.1_Missense_Mutation_p.F182S|IFNGR2_ENST00000405436.1_Missense_Mutation_p.F84S	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	163	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCCTCTCCCTTTGACATCGCT	0.443																																						uc002yrp.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(487-489)tTt>tCt		Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	Interferon gamma-1b(DB00033)						248	246	247					21																	34799266		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799266T>C		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.488T>C	21.37:g.34799266T>C	ENSP00000290219:p.Phe163Ser						p.F163S	NM_005534	NP_005525	P38484	INGR2_HUMAN			3	1136	+			163			Fibronectin type-III 2.		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.488T>C	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281323	0.59758	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.42513	0.97;0.97;0.97	5.38	5.38	0.77491	Fibronectin, type III (3);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.134420	0.06537	N	0.742616	T	0.65565	0.2703	M	0.72894	2.215	0.41430	D	0.987857	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.45483	-0.9258	10	0.33940	T	0.23	-6.2656	12.0685	0.53603	0.0:0.0:0.0:1.0	.	182;163	E7EUY1;P38484	.;INGR2_HUMAN	S	163;182;84	ENSP00000290219:F163S;ENSP00000371425:F182S;ENSP00000385044:F84S	ENSP00000290219:F163S	F	+	2	0	IFNGR2	33721136	0.994000	0.37717	0.979000	0.43373	0.249000	0.25844	3.537000	0.53590	2.156000	0.67533	0.460000	0.39030	TTT		0.443	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			C	34799266	T	C	34799266	3	2	203	1	0	0	0	0	1	0	0	0	7550	1841	64	4	502	4	IFNGR2	21	34799266	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		34799266	13330629	62	14274											
BPIL2	254240	broad.mit.edu	37	chr22	32828360	32828360	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgtctccccagacttacGaagtccatggaaacgatggt	11	9	9	12	2	1	1	0	0	1	1	3	4	2	2	3	2	2	0	3	2	3	1	rs200868839		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:32828360G>A	ENST00000397452.1	-	11	1259	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	BPIFC_ENST00000534972.1_Splice_Site_p.F107F|BPIFC_ENST00000300399.3_Splice_Site_p.F383F|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	383						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CCAGACTTACGAAGTCCATGG	0.517																																						uc003amn.2																			0											c.e10+1		Homo sapiens BPI fold containing family C (BPIFC), mRNA.							155	139	145					22																	32828360		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828360G>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1149+1C>T	22.37:g.32828360G>A						BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Splice_Site_p.F107_splice	p.F383_splice	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			10	1149	-			383					A2RRF1	Silent	SNP	ENST00000397452.1	37	c.1149_splice	CCDS13906.1																																																																																				0.517	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Silent	A	32828360	G	A	32828360	5	1	203	1	0	0	0	0	0	0	1	0	1492	1072	37	2	398	2	BPIL2	22	32828360	Splice_Site	SNP	G	TCGA-28-2502-01B-01D-1494-08		32828360	18476206	63	14275											
MYH9	4627	broad.mit.edu	37	chr22	36696181	36696181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcctcaccttggccaGcttgcagttctggtcctcca	5	10	10	16	1	2	0	1	0	1	0	4	0	4	0	5	3	2	3	5	3	0	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:36696181G>A	ENST00000216181.5	-	23	3198	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	990					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTTGGCCAGCTTGCAGTTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2968-2970)Ctg>Ttg		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.							82	70	74					22																	36696181		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696181G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2968C>T	22.37:g.36696181G>A						MYH9_uc003aph.1_Silent_p.L854L	p.L990L	NM_002473	NP_002464	P35579	MYH9_HUMAN			22	3199	-			990					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2968C>T	CCDS13927.1																																																																																				0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36696181	G	A	36696181	2	1	203	1	0	0	0	0	0	0	0	1	10042	962	34	3		3	MYH9	22	36696181	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	3867821	36696181	14608385	64	14276											
TMEM184B	25829	broad.mit.edu	37	chr22	38617546	38617546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccactgaggctgtgggagCgggagaggccgtgggcgcca	6	4	20	11	4	0	2	0	1	0	1	0	4	0	3	3	5	1	1	3	5	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:38617546C>T	ENST00000361906.3	-	9	1362	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	TMEM184B_ENST00000361684.4_Missense_Mutation_p.R385H|TMEM184B_ENST00000504337.1_5'UTR	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	385						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCTGTGGGAGCGGGAGAGGCC	0.652																																						uc003avf.1																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1153-1155)cGc>cAc		Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.							72	60	64					22																	38617546		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38617546C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.1154G>A	22.37:g.38617546C>T	ENSP00000355210:p.Arg385His					TMEM184B_uc003avh.2_Missense_Mutation_p.R319H|TMEM184B_uc003avg.2_Missense_Mutation_p.R385H|TMEM184B_uc021wpo.1_Non-coding_Transcript	p.R385H	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN			8	1378	-	Melanoma(58;0.045)		385					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.1154G>A	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902162	0.72754	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.49720	0.77;0.77	5.07	5.07	0.68467	.	0.057295	0.64402	D	0.000001	T	0.43122	0.1233	L	0.34521	1.04	0.80722	D	1	D	0.61080	0.989	B	0.44163	0.443	T	0.41556	-0.9502	10	0.45353	T	0.12	-34.4024	18.4374	0.90652	0.0:1.0:0.0:0.0	.	385	Q9Y519	T184B_HUMAN	H	385	ENSP00000355210:R385H;ENSP00000354441:R385H	ENSP00000354441:R385H	R	-	2	0	TMEM184B	36947492	1.000000	0.71417	0.898000	0.35279	0.809000	0.45718	7.733000	0.84916	2.363000	0.80096	0.561000	0.74099	CGC		0.652	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		T	38617546	C	T	38617546	3	4	203	1	0	0	0	0	1	0	0	0	16102	768	27	1	73	1	TMEM184B	22	38617546	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	1921365	38617546	12687020	65	14277											
MEI1	150365	broad.mit.edu	37	chr22	42191460	42191460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctctctcatgaagaggtgGgtgatgttctgcaaggtgtg	7	13	14	7	0	3	3	1	2	2	1	5	3	4	3	1	3	1	2	1	3	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:42191460G>C	ENST00000401548.3	+	29	3620	c.3580G>C	c.(3580-3582)Ggt>Cgt	p.G1194R	MEI1_ENST00000300398.4_Intron|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.G527R	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAAGAGGTGGGTGATGTTCT	0.557																																						uc003baz.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(3580-3582)Ggt>Cgt		Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.							159	161	160					22																	42191460		2052	4210	6262	SO:0001583	missense	150365						binding	g.chr22:42191460G>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3580G>C	22.37:g.42191460G>C	ENSP00000384115:p.Gly1194Arg					bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Intron	p.G1194R	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			28	3605	+			1194						Missense_Mutation	SNP	ENST00000401548.3	37	c.3580G>C	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	g	8.873	0.949699	0.18431	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000419798	T;T	0.69435	-0.4;-0.4	5.01	3.92	0.45320	.	0.747404	0.13042	N	0.418438	T	0.55609	0.1931	L	0.38531	1.155	0.49687	D	0.999817	B;B;B	0.15141	0.012;0.012;0.005	B;B;B	0.17433	0.011;0.018;0.016	T	0.48514	-0.9029	10	0.23891	T	0.37	-22.6136	11.931	0.52847	0.0:0.1756:0.8243:0.0	.	527;562;1194	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	R	1194;527;304	ENSP00000384115:G1194R;ENSP00000382978:G527R	ENSP00000382978:G527R	G	+	1	0	MEI1	40521406	0.911000	0.30947	0.937000	0.37676	0.024000	0.10985	1.522000	0.35921	2.322000	0.78497	0.462000	0.41574	GGT		0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		C	42191460	G	C	42191460	3	2	203	1	0	0	0	0	1	0	0	0	9465	1232	43	5	3694	5	MEI1	22	42191460	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	3573914	42191460	9113106	66	14278											
PANX2	56666	broad.mit.edu	37	chr22	50617532	50617532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatcctgagccgaaaCgccacacacccgctgctgca	10	5	7	19	3	1	1	1	1	0	0	2	2	2	1	5	0	4	3	5	0	1	0	rs145485598		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:50617532C>T	ENST00000395842.2	+	3	1860	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	PANX2_ENST00000159647.5_Silent_p.N620N	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	620					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGAGCCGAAACGCCACACACC	0.716																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1858-1860)aaC>aaT		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							40	38	39					22																	50617532		2196	4295	6491	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617532C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1860C>T	22.37:g.50617532C>T						PANX2_uc003bjp.4_Silent_p.N486N|PANX2_uc003bjo.4_Silent_p.N620N	p.N620N	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1860	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	620					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.1860C>T	CCDS14085.2																																																																																				0.716	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		T	50617532	C	T	50617532	2	4	203	1	0	0	0	0	0	0	0	1	11421	535	19	1		1	PANX2	22	50617532	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	8426072	50617532	687034	67	14279											
FAM47B	170062	broad.mit.edu	37	chrX	34962109	34962109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttgggaatcctgtccGcggccttttgagagtcggat	6	14	12	9	3	0	1	0	1	0	1	3	4	2	3	3	3	0	0	3	3	1	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:34962109G>A	ENST00000329357.5	+	1	1197	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	387										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATCCTGTCCGCGGCCTTTTG	0.567																																						uc004ddi.2																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1159-1161)ccG>ccA		Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.							48	46	47					X																	34962109		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962109G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1161G>A	X.37:g.34962109G>A							p.P387P	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			0	1197	+			387					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1161G>A	CCDS14236.1																																																																																				0.567	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		A	34962109	G	A	34962109	2	1	203	1	0	0	0	0	0	0	0	1	5570	1074	38	1		1	FAM47B	23	34962109	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		34962109	120308451	68	14280											
DARC	2532	broad.mit.edu	37	chr1	159175495	159175495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcagacctctcttccGctggcagctctgccctggct	3	13	9	16	1	3	1	1	0	2	1	5	1	4	1	3	2	2	5	3	2	0	3	rs371909350		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:159175495G>A	ENST00000368122.2	+	2	945	c.266G>A	c.(265-267)cGc>cAc	p.R89H	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.R89H|DARC_ENST00000368121.2_Missense_Mutation_p.R91H	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		89			R -> C (antigen Fy(x); dbSNP:rs34599082). {ECO:0000269|PubMed:9731074, ECO:0000269|PubMed:9746760, ECO:0000269|PubMed:9886340}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTCTCTTCCGCTGGCAGCTC	0.602																																						uc001ftp.4																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(271-273)cGc>cAc		Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	126	120	122		272,266	-3.7	0.9	1		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DARC	NM_001122951.2,NM_002036.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	91/339,89/337	159175495	2,13004	2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175495G>A																												ENST00000368122.2:c.266G>A	1.37:g.159175495G>A	ENSP00000357104:p.Arg89His					DARC_uc001fto.3_Missense_Mutation_p.R89H	p.R91H	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN			0	447	+	all_hematologic(112;0.0429)		89					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.272G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213852	0.01555	0.0	2.33E-4	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.41065	1.01;1.01;1.95;1.01	4.96	-3.71	0.04424	.	1.239470	0.06256	N	0.693066	T	0.03695	0.0105	N	0.01668	-0.77	0.19300	N	0.999979	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.09843	T	0.71	-3.2297	7.208	0.25917	0.3079:0.1645:0.5276:0.0	.	91;89	Q5Y7A1;Q16570	.;DUFFY_HUMAN	H	89;89;89;91;91	ENSP00000357104:R89H;ENSP00000441985:R89H;ENSP00000398406:R91H;ENSP00000357103:R91H	ENSP00000352341:R89H	R	+	2	0	DARC	157442119	0.005000	0.15991	0.923000	0.36655	0.277000	0.26821	-0.503000	0.06383	-0.522000	0.06417	-1.587000	0.00848	CGC		0.602	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			A	159175495	G	A	159175495	3	1	204	1	0	0	0	0	1	0	0	0	4240	1087	38	1	299	1	DARC	1	159175495	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		159175495	90075126	1	14281											
OBSCN	84033	broad.mit.edu	37	chr1	228529316	228529316	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccctgcctgtgtggcGtgagtgtccaccttcccggg	2	11	14	14	2	1	1	0	1	1	0	3	1	3	1	5	3	1	0	5	3	0	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:228529316G>A	ENST00000422127.1	+	74	18078		c.e74+1		OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGTGGCGTGAGTGTCCA	0.667																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e74+1		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							28	37	34					1																	228529316		2161	4244	6405	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228529316G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18034+1G>A	1.37:g.228529316G>A						OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	p.R6012_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			74	18078	+		Prostate(94;0.0405)	6012					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.18034_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284710	0.80803	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.442	0.90670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226595939	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.405000	0.97313	2.342000	0.79632	0.563000	0.77884	.		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron	A	228529316	G	A	228529316	5	1	204	1	0	0	0	0	0	0	1	0	10812	1159	40	1	18325	1	OBSCN	1	228529316	Splice_Site	SNP	G	TCGA-28-2509-01A-01D-1494-08	69353821	228529316	20721305	2	14282											
GALNT3	2591	broad.mit.edu	37	chr2	166611230	166611230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacatagaggctgaccaacGcttttaatctaaaggaaaat	17	9	8	7	1	1	3	0	1	1	2	1	4	1	4	1	2	1	2	1	2	7	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:166611230G>A	ENST00000392701.3	-	9	2308	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	GALNT3_ENST00000409882.1_Silent_p.S249S	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	511	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCTGACCAACGCTTTTAATCT	0.303																																						uc010fph.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1531-1533)agC>agT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.							61	57	59					2																	166611230		2203	4300	6503	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611230G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1533C>T	2.37:g.166611230G>A							p.S511S	NM_004482	NP_004473	Q14435	GALT3_HUMAN			8	1920	-			511			Ricin B-type lectin.		Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1533C>T	CCDS2226.1																																																																																				0.303	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		A	166611230	G	A	166611230	2	1	204	1	0	0	0	0	0	0	0	1	6214	1078	38	1		1	GALNT3	2	166611230	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		166611230	76588143	3	14283											
SESTD1	91404	broad.mit.edu	37	chr2	180014058	180014058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttcctttatcacttcCattgttaatcaaagcaagtt	11	17	4	9	0	2	1	2	1	0	0	4	1	4	1	2	0	1	3	2	0	4	7			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:180014058C>A	ENST00000428443.3	-	7	863	c.547G>T	c.(547-549)Gga>Tga	p.G183*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	183							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTCCATTGTTAATC	0.308																																						uc002uni.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(547-549)Gga>Tga		Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.							93	80	84					2																	180014058		2201	4297	6498	SO:0001587	stop_gained	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180014058C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.547G>T	2.37:g.180014058C>A	ENSP00000415332:p.Gly183*						p.G183*	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		6	697	-			183					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Nonsense_Mutation	SNP	ENST00000428443.3	37	c.547G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	37	6.287660	0.97444	.	.	ENSG00000187231	ENST00000428443	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.128	18.8932	0.92413	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	.	G	-	1	0	SESTD1	179722303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.791000	0.85805	2.546000	0.85860	0.655000	0.94253	GGA		0.308	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		A	180014058	C	A	180014058	4	1	204	1	0	0	0	0	0	1	0	0	14127	603	21	5	1591	5	SESTD1	2	180014058	Nonsense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	13402828	180014058	63185315	4	14284											
SP100	6672	broad.mit.edu	37	chr2	231328786	231328786	+	Frame_Shift_Del	DEL	C	C	-																															ccattcttttgtgcagtgatCaataatgacaaccctttaga																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:231328786delC	ENST00000264052.5	+	11	1417	c.1062delC	c.(1060-1062)atcfs	p.I354fs	SP100_ENST00000341950.4_Frame_Shift_Del_p.I354fs|SP100_ENST00000427101.2_Frame_Shift_Del_p.I329fs|SP100_ENST00000409824.1_Frame_Shift_Del_p.I329fs|SP100_ENST00000409112.1_Frame_Shift_Del_p.I354fs|SP100_ENST00000409341.1_Frame_Shift_Del_p.I354fs|SP100_ENST00000340126.4_Frame_Shift_Del_p.I354fs|SP100_ENST00000409897.1_Frame_Shift_Del_p.I319fs	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	354	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGCAGTGATCAATAATGACA	0.408																																						uc002vqt.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1060-1062)atcfs		Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.							64	61	62					2																	231328786		2203	4300	6503	SO:0001589	frameshift_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231328786delC	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1062delC	2.37:g.231328786delC	ENSP00000264052:p.Ile354fs					SP100_uc002vqs.3_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.2_Frame_Shift_Del_p.I354fs|SP100_uc010zmc.2_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.2_Frame_Shift_Del_p.I319fs	p.I354fs	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	10	1203	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	354					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Del	DEL	ENST00000264052.5	37	c.1062delC	CCDS2477.1																																																																																				0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		-	231328786	C	-	231328786	7	5	204	1	0	1	0	1	0	0	0	0	14960	816	29	0	1104	0	SP100	2	231328786	Frame_Shift_Del	DEL	C	TCGA-28-2509-01A-01D-1494-08	51314728	231328786	11870587	5	14285											
TRAT1	50852	broad.mit.edu	37	chr3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatgcaatagatgccagcGtttctaagaccaccttagta	13	11	7	10	1	1	2	0	0	1	2	1	2	1	2	3	0	4	3	3	0	6	6	rs142175794		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:108572602G>A	ENST00000295756.6	+	6	669	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	147					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		20417	0		0	False		,,,				2504	0					uc003dxi.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(439-441)Gtt>Att		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.		G	ILE/VAL	9,4397	15.5+/-35.6	0,9,2194	97	91	93		439	-10.6	0	3	dbSNP_134	93	0,8600		0,0,4300	yes	missense	TRAT1	NM_016388.2	29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	147/187	108572602	9,12997	2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572602G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.439G>A	3.37:g.108572602G>A	ENSP00000295756:p.Val147Ile					TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	p.V147I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	583	+			147					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.439G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.607	1.130369	0.21041	0.002043	0.0	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.36157	1.27;1.41	5.85	-10.6	0.00265	.	1.763740	0.02509	N	0.091292	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13495	-1.0507	10	0.33940	T	0.23	-25.2205	12.3914	0.55360	0.1463:0.3351:0.5187:0.0	.	110;147	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	147;110	ENSP00000295756:V147I;ENSP00000410097:V110I	ENSP00000295756:V147I	V	+	1	0	TRAT1	110055292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.815000	0.04481	-1.315000	0.02297	-0.982000	0.02568	GTT		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		A	108572602	G	A	108572602	3	1	204	1	0	0	0	0	1	0	0	0	16463	1145	40	1	461	1	TRAT1	3	108572602	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		108572602	89449828	6	14286											
PARP9	83666	broad.mit.edu	37	chr3	122274913	122274913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttttaaaattttgaaGtcattgtggttaatgggaat	12	20	8	1	0	1	1	1	1	0	0	1	2	1	2	0	2	0	1	0	2	6	8			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:122274913G>C	ENST00000360356.2	-	4	437	c.210C>G	c.(208-210)gaC>gaG	p.D70E	PARP9_ENST00000471785.1_Missense_Mutation_p.D35E|PARP9_ENST00000477522.2_Missense_Mutation_p.D35E|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000462315.1_Missense_Mutation_p.D35E	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	70					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAATTTTGAAGTCATTGTGGT	0.353																																						uc010hri.3																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(208-210)gaC>gaG		Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.							39	41	40					3																	122274913		2199	4299	6498	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274913G>C	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.210C>G	3.37:g.122274913G>C	ENSP00000353512:p.Asp70Glu					PARP9_uc003eff.4_Missense_Mutation_p.D35E|PARP9_uc011bjs.2_Missense_Mutation_p.D35E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.D35E|PARP9_uc003efh.3_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	p.D70E	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	3	355	-			70					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.210C>G	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.233359	0.00277	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000462315;ENST00000466126	T;T;T;T	0.16597	3.34;3.19;3.19;2.33	5.31	1.54	0.23209	.	0.767100	0.11808	N	0.527427	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24533	0.105;0.049;0.102	B;B;B	0.28139	0.025;0.026;0.086	T	0.41538	-0.9503	10	0.02654	T	1	.	3.95	0.09364	0.3312:0.0:0.5123:0.1565	.	35;70;35	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	E	70;35;35;35;48	ENSP00000353512:D70E;ENSP00000419506:D35E;ENSP00000419001:D35E;ENSP00000418894:D35E	ENSP00000353512:D70E	D	-	3	2	PARP9	123757603	0.264000	0.24093	0.002000	0.10522	0.011000	0.07611	0.511000	0.22739	0.104000	0.17725	-0.152000	0.13540	GAC		0.353	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		C	122274913	G	C	122274913	3	2	204	1	0	0	0	0	1	0	0	0	11466	1020	36	5	2439	5	PARP9	3	122274913	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	13702311	122274913	75747517	7	14287											
DBR1	51163	broad.mit.edu	37	chr3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-																															aatcatcttaagctgcatcgTcatcatcatcatccactgca																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:137880744_137880746delTCA	ENST00000260803.4	-	8	1773_1775	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.306_307DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	540					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399																																						uc003erv.3																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1618-1623)gatgac>gac		Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880744_137880746delTCA	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1620_1622delTGA	3.37:g.137880753_137880755delTCA	ENSP00000260803:p.Asp542del					DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	p.540_541DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			7	1774_1776	-			540					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1620_1622delTGA	CCDS33863.1																																																																																				0.399	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			-	137880746	TCA	-	137880744	7	5	204	1	0	1	0	1	0	0	0	0	4257	1667	58	0	16	0	DBR1	3	137880744	In_Frame_Del	DEL	TCA	TCGA-28-2509-01A-01D-1494-08	15605831	137880744	60141686	8	14288											
KIT	3815	broad.mit.edu	37	chr4	55564507	55564507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagaagacaacgacaCgctggtccgctgtcctctca	11	7	11	12	3	1	2	1	0	1	2	4	4	3	3	2	2	1	2	2	2	3	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:55564507C>T	ENST00000288135.5	+	3	492	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	132	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACAACGACACGCTGGTCCGC	0.498		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0		p.D131N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(394-396)aCg>aTg		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						47	44	45					4																	55564507		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55564507C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.395C>T	4.37:g.55564507C>T	ENSP00000288135:p.Thr132Met					KIT_uc010igs.3_Missense_Mutation_p.T132M	p.T132M	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	482	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		132			Ig-like C2-type 2.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.395C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393097	0.25118	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.77750	-1.12;-1.12	5.77	3.08	0.35506	Immunoglobulin-like fold (1);	0.711627	0.13205	N	0.405611	T	0.70002	0.3174	N	0.14661	0.345	0.09310	N	1	D;D	0.60575	0.988;0.983	P;P	0.55785	0.784;0.645	T	0.58177	-0.7682	10	0.49607	T	0.09	.	5.7455	0.18118	0.0:0.623:0.1524:0.2247	.	132;132	P10721-2;P10721	.;KIT_HUMAN	M	132	ENSP00000288135:T132M;ENSP00000390987:T132M	ENSP00000288135:T132M	T	+	2	0	KIT	55259264	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	0.450000	0.21762	0.779000	0.33543	-0.258000	0.10820	ACG		0.498	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			T	55564507	C	T	55564507	3	4	204	1	0	0	0	0	1	0	0	0	8329	536	19	1	405	1	KIT	4	55564507	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		55564507	135589769	9	14289											
SULT1B1	27284	broad.mit.edu	37	chr4	70592883	70592883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaaatttctcattttgggCcacggtgaagtaattcttcc	10	15	7	9	1	3	1	2	1	2	0	5	1	4	1	2	2	0	1	2	2	3	6			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:70592883C>T	ENST00000310613.3	-	8	1111	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATTTTGGGCCACGGTGAAG	0.343																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(814-816)Gcc>Acc		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							89	88	88					4																	70592883		2203	4299	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70592883C>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.814G>A	4.37:g.70592883C>T	ENSP00000308770:p.Ala272Thr						p.A272T	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	1112	-			272					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.814G>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352296	0.41700	.	.	ENSG00000173597	ENST00000310613	T	0.01963	4.53	5.06	1.04	0.20106	Sulfotransferase domain (1);	0.578828	0.16513	N	0.211143	T	0.03959	0.0111	M	0.82716	2.605	0.33078	D	0.536312	B	0.32862	0.387	B	0.32762	0.152	T	0.06552	-1.0820	10	0.56958	D	0.05	.	4.7968	0.13276	0.148:0.5712:0.0:0.2807	.	272	O43704	ST1B1_HUMAN	T	272	ENSP00000308770:A272T	ENSP00000308770:A272T	A	-	1	0	SULT1B1	70627472	0.994000	0.37717	0.000000	0.03702	0.022000	0.10575	0.640000	0.24705	0.029000	0.15352	-0.345000	0.07892	GCC		0.343	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		T	70592883	C	T	70592883	3	4	204	1	0	0	0	0	1	0	0	0	15373	739	26	3	80	3	SULT1B1	4	70592883	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	15028376	70592883	120561393	10	14290											
FRAS1	80144	broad.mit.edu	37	chr4	79447726	79447726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagagtacaccatctacCtgatcccttgcacagtgcag	11	8	9	13	0	1	2	0	1	1	1	2	3	2	2	3	1	4	3	3	1	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:79447726C>G	ENST00000264895.6	+	70	11280	c.10840C>G	c.(10840-10842)Ctg>Gtg	p.L3614V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3610					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCATCTACCTGATCCCTTG	0.517																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10840-10842)Ctg>Gtg		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							53	55	55					4																	79447726		2030	4190	6220	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79447726C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10840C>G	4.37:g.79447726C>G	ENSP00000264895:p.Leu3614Val						p.L3614V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			69	11280	+			3609					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10840C>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.72|17.72	3.459830|3.459830	0.63401|0.63401	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.27890|.	1.64|.	5.75|5.75	3.72|3.72	0.42706|0.42706	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.72906|0.72906	0.3519|0.3519	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.74150|0.74150	-0.3758|-0.3758	10|5	0.87932|.	D|.	0|.	.|.	9.1302|9.1302	0.36841|0.36841	0.0:0.6799:0.0:0.3201|0.0:0.6799:0.0:0.3201	.|.	3614|.	E9PHH6|.	.|.	V|R	3614|1842	ENSP00000264895:L3614V|.	ENSP00000264895:L3614V|.	L|P	+|+	1|2	2|0	FRAS1|FRAS1	79666750|79666750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	0.858000|0.858000	0.27845|0.27845	1.445000|1.445000	0.47624|0.47624	0.484000|0.484000	0.47621|0.47621	CTG|CCT		0.517	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	79447726	C	G	79447726	3	3	204	1	0	0	0	0	1	0	0	0	6042	680	24	5	11193	5	FRAS1	4	79447726	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	8854843	79447726	111706550	11	14291											
FAT1	2195	broad.mit.edu	37	chr4	187522529	187522529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttgttttcattttccGtcagacggtatttcacgtag	8	18	7	8	3	3	1	3	0	0	1	4	1	4	1	1	1	0	3	1	1	3	9	rs372957295		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:187522529G>A	ENST00000441802.2	-	21	11743	c.11534C>T	c.(11533-11535)aCg>aTg	p.T3845M	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3845	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T3845M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATTTTCCGTCAGACGGTA	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			1	Substitution - Missense(1)	p.T3845M(2)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11533-11535)aCg>aTg		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.		G	MET/THR	0,3804		0,0,1902	137	135	135		11534	-0.2	0.2	4		135	1,8229		0,1,4114	no	missense	FAT1	NM_005245.3	81	0,1,6016	AA,AG,GG		0.0122,0.0,0.0083	benign	3845/4589	187522529	1,12033	1902	4115	6017	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187522529G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11534C>T	4.37:g.187522529G>A	ENSP00000406229:p.Thr3845Met	HNSCC(5;0.00058)					p.T3845M	NM_005245	NP_005236	Q14517	FAT1_HUMAN			20	11722	-			3845			Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11534C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	8.023	0.760094	0.15846	0.0	1.22E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69040	-0.37	5.5	-0.202	0.13208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.162434	0.64402	N	0.000003	T	0.28830	0.0715	N	0.01352	-0.895	0.23693	N	0.997099	B	0.06786	0.001	B	0.01281	0.0	T	0.20472	-1.0274	10	0.25751	T	0.34	.	4.6258	0.12477	0.605:0.0:0.1351:0.2599	.	3845	Q14517	FAT1_HUMAN	M	3845;3847	ENSP00000406229:T3845M	ENSP00000260147:T3847M	T	-	2	0	FAT1	187759523	1.000000	0.71417	0.247000	0.24249	0.462000	0.32619	2.840000	0.48215	0.083000	0.17047	-0.440000	0.05779	ACG		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187522529	G	A	187522529	3	1	204	1	0	0	0	0	1	0	0	0	5689	1145	40	1	2260	1	FAT1	4	187522529	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	108074803	187522529	3631747	12	14292											
PCDHB7	56129	broad.mit.edu	37	chr5	140553530	140553530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgtttttaggattagaGacagagattccgggaacaat	12	12	12	5	1	0	2	0	0	0	2	1	6	1	4	1	3	1	2	1	3	4	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:140553530G>C	ENST00000231137.3	+	1	1288	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1114-1116)Gac>Cac		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							47	51	50					5																	140553530		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553530G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1114G>C	5.37:g.140553530G>C	ENSP00000231137:p.Asp372His						p.D372H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1288	+			372			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1114G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917414	0.73098	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.62105	0.05	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90000	0.6878	H	0.99965	5.09	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.95357	0.8452	9	0.87932	D	0	.	17.784	0.88532	0.0:0.0:1.0:0.0	.	372	Q9Y5E2	PCDB7_HUMAN	H	372;155	ENSP00000231137:D372H	ENSP00000231137:D372H	D	+	1	0	PCDHB7	140533714	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.416000	0.97383	2.244000	0.73946	0.650000	0.86243	GAC		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		C	140553530	G	C	140553530	3	2	204	1	0	0	0	0	1	0	0	0	11547	942	33	5	1116	5	PCDHB7	5	140553530	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		140553530	40361730	13	14293											
GM2A	2760	broad.mit.edu	37	chr5	150639411	150639411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggagcctgaccccatcatCgttcctggaaatgtgaccct	8	10	9	14	1	1	2	1	2	0	0	3	4	2	4	5	2	1	1	5	2	1	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150639411C>T	ENST00000357164.3	+	2	502	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	59			I -> V (in dbSNP:rs153477). {ECO:0000269|PubMed:10364519, ECO:0000269|PubMed:1427911, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1915857, ECO:0000269|PubMed:2059210, ECO:0000269|PubMed:2753159}.		ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCATCATCGTTCCTGGAA	0.587																																						uc003ltr.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(175-177)atC>atT		Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.							67	58	61					5																	150639411		2203	4300	6503	SO:0001819	synonymous_variant	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150639411C>T		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.177C>T	5.37:g.150639411C>T						GM2A_uc011dcr.2_Silent_p.I59I|GM2A_uc003ltt.1_5'UTR	p.I59I	NM_000405	NP_000396	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	342	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	59		I -> V (in dbSNP:rs153477).			B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	c.177C>T	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	C	5.217	0.225557	0.09916	.	.	ENSG00000196743	ENST00000523004	.	.	.	5.36	-1.53	0.08611	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	0.5447	1.4988	0.02472	0.36:0.3314:0.1065:0.2022	.	.	.	.	C	18	.	.	R	+	1	0	GM2A	150619604	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.364000	0.07583	-0.312000	0.08741	0.655000	0.94253	CGT		0.587	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		T	150639411	C	T	150639411	2	4	204	1	0	0	0	0	0	0	0	1	6484	874	31	2		2	GM2A	5	150639411	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	10085881	150639411	30275849	14	14294											
FAT2	2196	broad.mit.edu	37	chr5	150922530	150922530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagactgtagatgactggatCttgagctgccactgctttaa	10	13	10	8	0	1	4	0	2	1	2	1	5	1	5	1	1	3	3	1	1	3	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150922530C>G	ENST00000261800.5	-	9	8170	c.8158G>C	c.(8158-8160)Gat>Cat	p.D2720H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2720	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGACTGGATCTTGAGCTGCC	0.478																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8158-8160)Gat>Cat		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							73	74	73					5																	150922530		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922530C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8158G>C	5.37:g.150922530C>G	ENSP00000261800:p.Asp2720His						p.D2720H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	8171	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2720			Cadherin 24.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8158G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182862	0.38511	.	.	ENSG00000086570	ENST00000261800	T	0.51574	0.7	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.088614	0.48286	D	0.000185	T	0.64616	0.2614	L	0.50993	1.605	0.41558	D	0.988612	D	0.76494	0.999	D	0.69142	0.962	T	0.64257	-0.6450	10	0.52906	T	0.07	.	19.4978	0.95081	0.0:1.0:0.0:0.0	.	2720	Q9NYQ8	FAT2_HUMAN	H	2720	ENSP00000261800:D2720H	ENSP00000261800:D2720H	D	-	1	0	FAT2	150902723	0.998000	0.40836	0.994000	0.49952	0.934000	0.57294	4.490000	0.60319	2.608000	0.88229	0.462000	0.41574	GAT		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150922530	C	G	150922530	3	3	204	1	0	0	0	0	1	0	0	0	5690	913	32	5	4951	5	FAT2	5	150922530	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	283119	150922530	29992730	15	14295											
SLIT3	6586	broad.mit.edu	37	chr5	168233574	168233574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagttggcattgcaggatGggggctccgagtggggggct	5	9	21	6	1	0	0	0	0	0	0	1	3	1	2	1	8	1	5	1	8	0	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:168233574G>T	ENST00000519560.1	-	9	1231	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.P271Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.P271Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	271	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGCAGGATGGGGGCTCCGA	0.567																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(811-813)cCa>cAa		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							65	62	63					5																	168233574		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168233574G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.812C>A	5.37:g.168233574G>T	ENSP00000430333:p.Pro271Gln					SLIT3_uc003mab.3_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	p.P271Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1232	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	271			LRRNT 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.812C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509606	0.44660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76709	-1.04;-1.04;-1.04	5.85	5.85	0.93711	.	0.216669	0.45361	D	0.000365	T	0.68979	0.3060	L	0.31065	0.9	0.49130	D	0.999759	P;P;B	0.43352	0.804;0.696;0.013	B;B;B	0.36030	0.216;0.142;0.011	T	0.70417	-0.4877	10	0.41790	T	0.15	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	271;271;271	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	Q	271	ENSP00000430333:P271Q;ENSP00000332164:P271Q;ENSP00000384890:P271Q	ENSP00000332164:P271Q	P	-	2	0	SLIT3	168166152	1.000000	0.71417	0.619000	0.29118	0.963000	0.63663	4.529000	0.60588	2.767000	0.95098	0.655000	0.94253	CCA		0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168233574	G	T	168233574	3	4	204	1	0	0	0	0	1	0	0	0	14741	1348	47	5	3871	5	SLIT3	5	168233574	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	17311044	168233574	12681686	16	14296											
FOXI1	2299	broad.mit.edu	37	chr5	169535115	169535115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgacaatggaaatttcCgcaggaaaaggaagagaaaa	18	7	11	5	2	0	1	0	0	0	1	2	6	1	4	1	3	0	2	1	3	7	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:169535115C>T	ENST00000306268.6	+	2	698	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	213					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAATTTCCGCAGGAAAAG	0.488									Pendred syndrome																													uc003mai.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(637-639)Cgc>Tgc		Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.							74	72	73					5																	169535115		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535115C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.637C>T	5.37:g.169535115C>T	ENSP00000304286:p.Arg213Cys					FOXI1_uc003maj.4_Intron	p.R213C	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	682	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	213					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.637C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441421	0.63067	.	.	ENSG00000168269	ENST00000306268	D	0.95821	-3.82	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99243	1.0885	10	0.87932	D	0	.	13.4659	0.61254	0.1573:0.8427:0.0:0.0	.	213	Q12951	FOXI1_HUMAN	C	213	ENSP00000304286:R213C	ENSP00000304286:R213C	R	+	1	0	FOXI1	169467693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.953000	0.49105	2.165000	0.68154	0.455000	0.32223	CGC		0.488	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		T	169535115	C	T	169535115	3	4	204	1	0	0	0	0	1	0	0	0	6009	652	23	2	643	2	FOXI1	5	169535115	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	1301541	169535115	11380145	17	14297											
ARID1B	57492	broad.mit.edu	37	chr6	157495209	157495209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcctctcaaagcagaCggcaaagaagaaggcactcc	13	4	9	15	1	1	3	1	0	1	3	3	3	2	3	4	2	2	3	4	2	4	0	rs147853607		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr6:157495209C>T	ENST00000350026.5	+	10	3055	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	ARID1B_ENST00000367148.1_Silent_p.D1018D|ARID1B_ENST00000346085.5_Silent_p.D1031D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.D960D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1018					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAAAGCAGACGGCAAAGAAG	0.507																																						uc003qqp.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3052-3054)gaC>gaT		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	111	100	104		3054,3093	-1.9	1	6	dbSNP_134	104	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,3,6496	TT,TC,CC		0.0233,0.0227,0.0231	,	1018/2237,1031/2250	157495209	3,12995	2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157495209C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3054C>T	6.37:g.157495209C>T						ARID1B_uc003qqo.3_Silent_p.D1031D|ARID1B_uc003qqn.3_Silent_p.D1018D	p.D1018D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	3054	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1018					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.3054C>T	CCDS5251.2																																																																																				0.507	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		T	157495209	C	T	157495209	2	4	204	1	0	0	0	0	0	0	0	1	914	535	19	1		1	ARID1B	6	157495209	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08		157495209	13619858	18	14298											
GCC1	79571	broad.mit.edu	37	chr7	127222986	127222986	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccttctccccatcagcAgcctccgagctgggcattat	7	10	9	15	1	2	0	1	0	1	0	4	1	3	0	5	1	4	4	5	1	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:127222986A>G	ENST00000321407.2	-	2	1834	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	470					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCATCAGCAGCCTCCGAGC	0.542																																						uc003vma.3																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1408-1410)gcT>gcC		Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.							99	99	99					7																	127222986		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222986A>G	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1410T>C	7.37:g.127222986A>G							p.A470A	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	1828	-			470					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.1410T>C	CCDS5796.1																																																																																				0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		G	127222986	A	G	127222986	2	3	204	1	0	0	0	0	0	0	0	1	6285	175	7	4		4	GCC1	7	127222986	Silent	SNP	A	TCGA-28-2509-01A-01D-1494-08		127222986	31915677	19	14299											
OR2A25	392138	broad.mit.edu	37	chr7	143771552	143771552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcacggtgccccagatGctggtgaacctcctgcatcc	7	8	11	15	1	0	2	0	1	0	1	2	2	2	2	5	2	6	4	5	2	1	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:143771552G>A	ENST00000408898.2	+	1	278	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M80I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCCCCAGATGCTGGTGAACC	0.547																																						uc011ktx.2																			1	Substitution - Missense(1)	p.M80I(2)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(238-240)atG>atA		Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.							79	83	82					7																	143771552		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771552G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.240G>A	7.37:g.143771552G>A	ENSP00000386167:p.Met80Ile						p.M80I	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			0	240	+	Melanoma(164;0.0783)		80					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.240G>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106471	0.56291	.	.	ENSG00000221933	ENST00000408898	T	0.05513	3.43	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24851	0.0603	M	0.75447	2.3	0.38215	D	0.940587	D	0.64830	0.994	D	0.72338	0.977	T	0.01935	-1.1244	9	0.72032	D	0.01	-14.7611	15.5662	0.76294	0.0:0.0:1.0:0.0	.	80	A4D2G3	O2A25_HUMAN	I	80	ENSP00000386167:M80I	ENSP00000386167:M80I	M	+	3	0	OR2A25	143402485	0.992000	0.36948	1.000000	0.80357	0.964000	0.63967	1.837000	0.39201	2.531000	0.85337	0.563000	0.77884	ATG		0.547	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			A	143771552	G	A	143771552	3	1	204	1	0	0	0	0	1	0	0	0	10978	1319	46	3	242	3	OR2A25	7	143771552	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	16548566	143771552	15367111	20	14300											
ABCB8	11194	broad.mit.edu	37	chr7	150737710	150737710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgttacatttcagaaCgtctgcttcaggtcagcacg	8	11	10	12	3	4	1	3	0	1	1	5	1	5	1	1	2	4	4	1	2	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:150737710C>G	ENST00000297504.6	+	12	1494	c.1428C>G	c.(1426-1428)aaC>aaG	p.N476K	ABCB8_ENST00000498578.1_Missense_Mutation_p.N459K|ABCB8_ENST00000358849.4_Missense_Mutation_p.N459K|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.N371K			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	476	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CATTTCAGAACGTCTGCTTCA	0.632																																						uc003wil.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1426-1428)aaC>aaG		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.							68	71	70					7																	150737710		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737710C>G	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1428C>G	7.37:g.150737710C>G	ENSP00000297504:p.Asn476Lys					ABCB8_uc010lpw.1_Missense_Mutation_p.N348K|ABCB8_uc010lpx.3_Missense_Mutation_p.N459K|ABCB8_uc011kvd.2_Missense_Mutation_p.N371K|ABCB8_uc003wim.4_Missense_Mutation_p.N254K|ABCB8_uc003wik.4_Missense_Mutation_p.N459K	p.N476K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1521	+			476			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1428C>G		.	.	.	.	.	.	.	.	.	.	C	13.39	2.222045	0.39300	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.53	-3.49	0.04724	ABC transporter-like (1);	0.048992	0.85682	D	0.000000	D	0.89653	0.6777	L	0.48642	1.525	0.80722	D	1	P;P;P;P	0.50369	0.934;0.821;0.821;0.888	P;P;P;P	0.55824	0.785;0.614;0.614;0.785	D	0.86915	0.2063	10	0.72032	D	0.01	1.2128	11.4108	0.49925	0.0:0.3652:0.0:0.6348	.	371;459;476;459	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	K	459;442;476;371;459	ENSP00000351717:N459K;ENSP00000297504:N476K;ENSP00000438776:N371K;ENSP00000418271:N459K	ENSP00000297504:N476K	N	+	3	2	ABCB8	150368643	0.090000	0.21635	0.496000	0.27539	0.248000	0.25809	-0.600000	0.05693	-0.645000	0.05458	-0.258000	0.10820	AAC		0.632	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		G	150737710	C	G	150737710	3	3	204	1	0	0	0	0	1	0	0	0	47	535	19	5	1419	5	ABCB8	7	150737710	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	6966158	150737710	8400953	21	14301											
SGK223	157285	broad.mit.edu	37	chr8	8235473	8235473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgagaattgccatcaGgggaggtagagggaccagca	13	4	16	8	1	1	2	1	0	0	2	1	6	1	4	2	4	3	2	2	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:8235473G>T	ENST00000520004.1	-	3	710	c.446C>A	c.(445-447)cCt>cAt	p.P149H	SGK223_ENST00000330777.4_Missense_Mutation_p.P149H			Q86YV5	SG223_HUMAN		149							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATTGCCATCAGGGGAGGTAGA	0.642																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(445-447)cCt>cAt		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							67	72	71					8																	8235473		2009	4179	6188	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8235473G>T																												ENST00000520004.1:c.446C>A	8.37:g.8235473G>T	ENSP00000428054:p.Pro149His						p.P149H	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			1	446	-			149					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.446C>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	5.497	0.276703	0.10403	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56103	0.48;0.48	5.01	4.12	0.48240	.	1.331090	0.05562	N	0.569376	T	0.37892	0.1020	N	0.14661	0.345	0.09310	N	1	P	0.36438	0.553	B	0.31869	0.137	T	0.33954	-0.9848	10	0.56958	D	0.05	.	10.3368	0.43854	0.0:0.1455:0.7038:0.1507	.	149	Q86YV5	SG223_HUMAN	H	149	ENSP00000330930:P149H;ENSP00000428054:P149H	ENSP00000330930:P149H	P	-	2	0	AC068353.1	8272883	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.296000	0.19083	1.398000	0.46701	0.655000	0.94253	CCT		0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8235473	G	T	8235473	3	4	204	1	0	0	0	0	1	0	0	0	14210	1000	35	5	3778	5	SGK223	8	8235473	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		8235473	138128549	22	14302											
PRKDC	5591	broad.mit.edu	37	chr8	48869810	48869810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactttaggatttcttctCtacattcacgaaactgtaat	14	15	4	8	1	3	0	1	0	2	0	4	2	3	1	0	1	3	1	0	1	6	7			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:48869810C>T	ENST00000314191.2	-	3	301	c.245G>A	c.(244-246)aGa>aAa	p.R82K	PRKDC_ENST00000338368.3_Missense_Mutation_p.R82K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	82					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATTTCTTCTCTACATTCACG	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(244-246)aGa>aAa	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							65	60	61					8																	48869810		1797	4071	5868	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48869810C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.245G>A	8.37:g.48869810C>T	ENSP00000313420:p.Arg82Lys					PRKDC_uc003xqj.3_Missense_Mutation_p.R82K|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank	p.R82K	NM_006904	NP_008835	P78527	PRKDC_HUMAN			2	302	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	82					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.245G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.990521	0.74589	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.74315	-0.78;-0.83	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	.	.	.	0.58432	D	0.999994	P;P;P	0.49559	0.669;0.925;0.816	B;B;B	0.42692	0.19;0.395;0.288	T	0.67688	-0.5606	9	0.22706	T	0.39	.	19.0087	0.92863	0.0:1.0:0.0:0.0	.	82;82;82	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	K	82	ENSP00000313420:R82K;ENSP00000345182:R82K	ENSP00000313420:R82K	R	-	2	0	PRKDC	49032363	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.387000	0.73191	2.532000	0.85374	0.655000	0.94253	AGA		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48869810	C	T	48869810	3	4	204	1	0	0	0	0	1	0	0	0	12521	913	32	3	12476	3	PRKDC	8	48869810	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	40634337	48869810	97494212	23	14303											
TSNARE1	203062	broad.mit.edu	37	chr8	143425640	143425640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgtgccaaacagcagctgGtggtgcttgctcaccttgga	7	9	12	13	1	1	0	1	0	0	0	1	1	1	1	3	3	6	4	3	3	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:143425640G>A	ENST00000307180.3	-	4	549	c.432C>T	c.(430-432)caC>caT	p.H144H	TSNARE1_ENST00000524325.1_Silent_p.H144H|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.H144H	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	144					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCAGCTGGTGGTGCTTGC	0.667																																						uc003ywj.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(430-432)caC>caT		Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.							42	44	44					8																	143425640		2203	4300	6503	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425640G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.432C>T	8.37:g.143425640G>A						TSNARE1_uc011lju.2_Silent_p.H144H|TSNARE1_uc003ywk.3_Silent_p.H144H|TSNARE1_uc003ywl.4_Intron	p.H144H	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			2	471	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		144					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.432C>T	CCDS6384.1																																																																																				0.667	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143425640	G	A	143425640	2	1	204	1	0	0	0	0	0	0	0	1	16627	1252	44	3		3	TSNARE1	8	143425640	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	94555830	143425640	2938382	24	14304											
ZNF658	26149	broad.mit.edu	37	chr9	40772759	40772759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtgcacagaggtgtGttctttgggagaaagttttc	8	15	13	5	0	2	3	0	1	2	2	3	4	2	3	0	2	1	3	0	2	1	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:40772759G>A	ENST00000602553.1	-	5	2810	c.2516C>T	c.(2515-2517)aCa>aTa	p.T839I	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.T839I			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	839					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGAGGTGTGTTCTTTGGGA	0.428																																						uc004abs.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2515-2517)aCa>aTa		Homo sapiens zinc finger protein 658 (ZNF658), mRNA.							34	31	32					9																	40772759		2201	4288	6489	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772759G>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2516C>T	9.37:g.40772759G>A	ENSP00000473484:p.Thr839Ile					ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	p.T839I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	2668	-			839					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2516C>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	10.72	1.430676	0.25726	.	.	ENSG00000196409	ENST00000377626	T	0.01043	5.41	1.97	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	L	0.39397	1.21	0.09310	N	1	B	0.30179	0.271	B	0.24541	0.054	T	0.46205	-0.9208	9	0.59425	D	0.04	.	5.8226	0.18536	0.0:0.0:0.6856:0.3144	.	839	Q5TYW1	ZN658_HUMAN	I	839	ENSP00000366853:T839I	ENSP00000366853:T839I	T	-	2	0	ZNF658	40762759	0.000000	0.05858	0.001000	0.08648	0.977000	0.68977	0.443000	0.21644	1.453000	0.47775	0.518000	0.50308	ACA		0.428	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		A	40772759	G	A	40772759	3	1	204	1	0	0	0	0	1	0	0	0	18066	1377	48	3	667	3	ZNF658	9	40772759	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		40772759	100440672	25	14305											
C9orf140	89958	broad.mit.edu	37	chr9	139959203	139959203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcgccgacttctcctgctCcagctgcgtgatgcgctcac	5	9	11	16	4	2	1	1	1	1	0	4	3	3	1	3	0	5	3	3	0	0	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:139959203C>T	ENST00000409687.3	-	6	1220	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	RP11-229P13.23_ENST00000456356.2_RNA|RP11-229P13.22_ENST00000435463.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	365						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											TTCTCCTGCTCCAGCTGCGTG	0.647											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011men.2																			0											c.(1093-1095)Gag>Aag		Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.							44	39	40					9																	139959203		2196	4291	6487	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139959203C>T	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"chromosome 9 open reading frame 140"	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1093G>A	9.37:g.139959203C>T	ENSP00000386348:p.Glu365Lys		OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652		p.E365K	NM_178448	NP_848543	Q86UD0	CI140_HUMAN			5	1209	-			365						Missense_Mutation	SNP	ENST00000409687.3	37	c.1093G>A	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162870	0.78226	.	.	ENSG00000186193	ENST00000409687	T	0.60424	0.19	3.87	2.95	0.34219	.	0.000000	0.64402	D	0.000001	T	0.70640	0.3247	M	0.77820	2.39	0.46078	D	0.998857	D	0.61080	0.989	P	0.60473	0.875	T	0.73145	-0.4075	10	0.66056	D	0.02	0.64	10.9292	0.47207	0.0:0.8074:0.1925:0.0	.	365	Q86UD0	CI140_HUMAN	K	365	ENSP00000386348:E365K	ENSP00000386348:E365K	E	-	1	0	C9orf140	139079024	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	4.026000	0.57232	0.803000	0.34113	0.313000	0.20887	GAG		0.647	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		T	139959203	C	T	139959203	3	4	204	1	0	0	0	0	1	0	0	0	2460	864	30	3	95	3	C9orf140	9	139959203	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	99186444	139959203	1254228	26	14306											
AGAP6	414189	broad.mit.edu	37	chr10	51748567	51748567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtccctctgaatctgagaCctatgaggcaggagctaggg	9	9	14	9	0	2	3	0	3	2	1	3	5	3	4	2	3	1	2	2	3	3	2	rs201959678		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:51748567C>T	ENST00000374056.4	+	1	490	c.92C>T	c.(91-93)aCc>aTc	p.T31I	AGAP6_ENST00000412531.3_Missense_Mutation_p.T31I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	31					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GAATCTGAGACCTATGAGGCA	0.597																																						uc001jix.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(91-93)aCc>aTc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748567C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.92C>T	10.37:g.51748567C>T	ENSP00000363168:p.Thr31Ile						p.T31I	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN			0	490	+			31						Missense_Mutation	SNP	ENST00000374056.4	37	c.92C>T		.	.	.	.	.	.	.	.	.	.	T	0.001	-3.137047	0.00030	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.86627	-2.15;-2.15	1.16	1.16	0.20824	.	0.224693	0.38663	N	0.001609	T	0.64046	0.2563	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52503	-0.8567	9	0.02654	T	1	.	3.2917	0.06952	0.0:0.2646:0.0:0.7354	.	31	C9IYN2	.	I	31	ENSP00000363168:T31I;ENSP00000400972:T31I	ENSP00000363168:T31I	T	+	2	0	AGAP6	51418573	0.001000	0.12720	0.518000	0.27811	0.052000	0.14988	-0.019000	0.12546	-0.041000	0.13558	-1.514000	0.00941	ACC		0.597	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		T	51748567	C	T	51748567	3	4	204	1	0	0	0	0	1	0	0	0	372	507	18	3	94	3	AGAP6	10	51748567	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		51748567	83786180	27	14307											
VENTX	27287	broad.mit.edu	37	chr10	135053299	135053299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacctgagccctctggagCggaagaggctggccagggag	9	5	17	10	1	1	2	0	1	1	1	1	5	1	5	3	5	3	2	3	5	2	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:135053299C>T	ENST00000325980.9	+	2	872	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	121					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCTCTGGAGCGGAAGAGGCT	0.687																																						uc010quy.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(361-363)Cgg>Tgg		Homo sapiens VENT homeobox (VENTX), mRNA.							25	28	27					10																	135053299		2202	4294	6496	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053299C>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.361C>T	10.37:g.135053299C>T	ENSP00000357556:p.Arg121Trp						p.R121W	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	372	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	121					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.361C>T	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925756	0.52759	.	.	ENSG00000151650	ENST00000325980	D	0.97553	-4.43	2.83	0.609	0.17575	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.127530	0.49305	U	0.000146	D	0.98394	0.9466	H	0.97131	3.945	0.40105	D	0.976411	D	0.89917	1.0	D	0.97110	1.0	D	0.95855	0.8878	10	0.87932	D	0	.	2.4411	0.04494	0.2935:0.5253:0.0:0.1812	.	121	O95231	VENTX_HUMAN	W	121	ENSP00000357556:R121W	ENSP00000357556:R121W	R	+	1	2	VENTX	134903289	0.993000	0.37304	0.020000	0.16555	0.774000	0.43823	1.214000	0.32419	0.508000	0.28173	0.442000	0.29010	CGG		0.687	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		T	135053299	C	T	135053299	3	4	204	1	0	0	0	0	1	0	0	0	17150	759	27	1	367	1	VENTX	10	135053299	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	83304732	135053299	481448	28	14308											
OR4C3	256144	broad.mit.edu	37	chr11	48346680	48346680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgatctatgtggtcaCggtttgtggcaacatgctca	7	15	11	8	1	3	1	2	1	1	0	3	1	3	1	0	3	3	4	0	3	2	3	rs202136357		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48346680C>T	ENST00000319856.4	+	1	209	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGTGGTCACGGTTTGTGGC	0.463													C|||	1	0.000199681	0	0.0014	5008	,	,		19554	0		0	False		,,,				2504	0					uc010rhv.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(187-189)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.							157	132	141					11																	48346680		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346680C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.188C>T	11.37:g.48346680C>T	ENSP00000321419:p.Thr63Met						p.T63M	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			0	188	+			36					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.188C>T	CCDS31489.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.47	3.833442	0.71258	.	.	ENSG00000176547	ENST00000319856	T	0.00504	6.94	5.87	5.87	0.94306	.	0.281721	0.25375	N	0.031122	T	0.02848	0.0085	H	0.96301	3.8	0.22610	N	0.998938	D	0.67145	0.996	P	0.57283	0.817	T	0.13124	-1.0521	10	0.87932	D	0	.	17.8676	0.88800	0.0:1.0:0.0:0.0	.	36	Q8NH37	OR4C3_HUMAN	M	63	ENSP00000321419:T63M	ENSP00000321419:T63M	T	+	2	0	OR4C3	48303256	0.058000	0.20735	0.008000	0.14137	0.943000	0.58893	0.407000	0.21049	2.825000	0.97269	0.543000	0.68304	ACG		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		T	48346680	C	T	48346680	3	4	204	1	0	0	0	0	1	0	0	0	11050	536	19	1	190	1	OR4C3	11	48346680	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		48346680	86659836	29	14309											
OR4A47	403253	broad.mit.edu	37	chr11	48510660	48510660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttatcgagcacattttcGgtgggtcagaggtctttctc	6	16	10	9	2	4	1	1	0	3	1	7	2	4	1	0	3	1	1	0	3	1	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48510660G>A	ENST00000446524.1	+	1	392	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCACATTTTCGGTGGGTCAGA	0.453																																						uc010rhx.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(316-318)Ggt>Agt		Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.							102	95	97					11																	48510660		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510660G>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.316G>A	11.37:g.48510660G>A	ENSP00000412752:p.Gly106Ser						p.G106S	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			0	316	+			106						Missense_Mutation	SNP	ENST00000446524.1	37	c.316G>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.95	2.091914	0.36952	.	.	ENSG00000237388	ENST00000446524	T	0.37915	1.17	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.113194	0.39687	N	0.001292	T	0.33059	0.0850	M	0.68317	2.08	0.37036	D	0.896901	P	0.44521	0.837	B	0.28991	0.097	T	0.54596	-0.8270	10	0.72032	D	0.01	.	15.4385	0.75165	0.0:0.0:1.0:0.0	.	106	Q6IF82	O4A47_HUMAN	S	106	ENSP00000412752:G106S	ENSP00000412752:G106S	G	+	1	0	OR4A47	48467236	0.072000	0.21174	0.974000	0.42286	0.113000	0.19764	1.915000	0.39976	2.218000	0.71995	0.511000	0.50034	GGT		0.453	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		A	48510660	G	A	48510660	3	1	204	1	0	0	0	0	1	0	0	0	11042	1116	39	2	318	2	OR4A47	11	48510660	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	163980	48510660	86495856	30	14310											
OR5W2	390148	broad.mit.edu	37	chr11	55681751	55681751	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcaaagatacagaagAccaagaattgcagagcacag	19	5	9	8	0	1	5	0	0	1	5	1	5	1	5	1	0	4	3	1	0	6	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:55681751A>G	ENST00000344514.1	-	1	307	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACAGAAGACCAAGAATTG	0.468																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			0		p.V103V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(307-309)gTc>gCc		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							121	118	119					11																	55681751		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681751A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.308T>C	11.37:g.55681751A>G	ENSP00000342448:p.Val103Ala						p.V103A	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	308	-			103						Missense_Mutation	SNP	ENST00000344514.1	37	c.308T>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535664	0.27475	.	.	ENSG00000187612	ENST00000344514	T	0.00397	7.57	5.01	0.0149	0.14102	GPCR, rhodopsin-like superfamily (1);	0.619835	0.13288	N	0.399206	T	0.00210	0.0006	N	0.20845	0.615	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.36744	-0.9735	10	0.72032	D	0.01	.	8.3287	0.32173	0.6618:0.0:0.3382:0.0	.	103	Q8NH69	OR5W2_HUMAN	A	103	ENSP00000342448:V103A	ENSP00000342448:V103A	V	-	2	0	OR5W2	55438327	0.000000	0.05858	0.000000	0.03702	0.841000	0.47740	-0.007000	0.12810	-0.267000	0.09325	-0.463000	0.05309	GTC		0.468	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		G	55681751	A	G	55681751	3	3	204	1	0	0	0	0	1	0	0	0	11185	275	10	4	626	4	OR5W2	11	55681751	Missense_Mutation	SNP	A	TCGA-28-2509-01A-01D-1494-08	7171091	55681751	79324765	31	14311											
GANAB	23193	broad.mit.edu	37	chr11	62400735	62400735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgccttcccctgagtCtcctctggctgttaagaaga	6	14	8	13	0	3	3	0	1	3	2	6	3	4	3	4	1	1	2	4	1	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:62400735C>T	ENST00000356638.3	-	7	655	c.639G>A	c.(637-639)gaG>gaA	p.E213E	GANAB_ENST00000540933.1_Silent_p.E116E|GANAB_ENST00000534779.1_Silent_p.E121E|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Silent_p.E235E	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	213					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCCCCTGAGTCTCCTCTGGCT	0.527																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(703-705)gaG>gaA		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							106	111	109					11																	62400735		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400735C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.639G>A	11.37:g.62400735C>T						GANAB_uc001nub.3_Silent_p.E213E|GANAB_uc001nuc.3_Silent_p.E116E|GANAB_uc010rma.2_Silent_p.E121E|GANAB_uc010rmb.2_Silent_p.E99E	p.E235E	NM_198335	NP_938149	Q14697	GANAB_HUMAN			7	738	-			213					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.705G>A	CCDS8026.1																																																																																				0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		T	62400735	C	T	62400735	2	4	204	1	0	0	0	0	0	0	0	1	6233	912	32	3		3	GANAB	11	62400735	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	6718984	62400735	72605781	32	14312											
USP28	57646	broad.mit.edu	37	chr11	113672259	113672259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcatgacctcaatggCatccagatcatccttggaaa	11	12	7	11	0	3	2	3	1	1	1	6	3	5	3	3	2	0	2	3	2	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:113672259C>T	ENST00000003302.4	-	24	3072	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	USP28_ENST00000545540.1_Missense_Mutation_p.A845T|USP28_ENST00000544967.1_Missense_Mutation_p.A678T|USP28_ENST00000260188.5_Missense_Mutation_p.A970T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1002					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTCAATGGCATCCAGATCA	0.393																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3004-3006)Gcc>Acc		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							123	102	109					11																	113672259		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113672259C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3004G>A	11.37:g.113672259C>T	ENSP00000003302:p.Ala1002Thr					USP28_uc001pog.3_Missense_Mutation_p.A678T|USP28_uc010rwy.2_Missense_Mutation_p.A845T|USP28_uc001poi.3_Missense_Mutation_p.A325T	p.A1002T	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	23	3037	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	1002					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.3004G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046089	0.93740	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.52295	1.23;1.25;0.67;1.26	5.62	5.62	0.85841	.	0.228496	0.45361	D	0.000370	T	0.54464	0.1860	L	0.46157	1.445	0.51482	D	0.999923	P;D;P	0.56035	0.91;0.974;0.898	B;P;P	0.51016	0.354;0.656;0.557	T	0.56962	-0.7892	10	0.72032	D	0.01	-14.0318	17.8505	0.88746	0.0:1.0:0.0:0.0	.	845;1002;678	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	T	1002;970;678;845	ENSP00000003302:A1002T;ENSP00000260188:A970T;ENSP00000442431:A678T;ENSP00000444991:A845T	ENSP00000003302:A1002T	A	-	1	0	USP28	113177469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.268000	0.78473	2.639000	0.89480	0.585000	0.79938	GCC		0.393	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			T	113672259	C	T	113672259	3	4	204	1	0	0	0	0	1	0	0	0	17055	710	25	3	237	3	USP28	11	113672259	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	51271524	113672259	21334257	33	14313											
DDX25	29118	broad.mit.edu	37	chr11	125788549	125788549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaacgctaagtggttgacCgtggagatgatacaggatgg	12	8	15	6	3	0	3	0	2	0	1	0	6	0	4	1	4	2	2	1	4	3	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:125788549C>T	ENST00000263576.6	+	10	1220	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	355	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGTGGTTGACCGTGGAGATGA	0.512																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1063-1065)acC>acT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							137	136	136					11																	125788549		2016	4179	6195	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125788549C>T	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1065C>T	11.37:g.125788549C>T						DDX25_uc010sbk.2_Silent_p.T355T	p.T355T	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	9	1206	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	355			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.1065C>T	CCDS44766.1																																																																																				0.512	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		T	125788549	C	T	125788549	2	4	204	1	0	0	0	0	0	0	0	1	4352	639	23	2		2	DDX25	11	125788549	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	12116290	125788549	9217967	34	14314											
LRRK2	120892	broad.mit.edu	37	chr12	40618993	40618996	+	Frame_Shift_Del	DEL	AGTC	AGTC	-																															gaaactctgaagaagttgatAgtcaggctgaacaatgtcca																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:40618993_40618996delAGTC	ENST00000298910.7	+	1	118_121	c.60_63delAGTC	c.(58-63)atagtcfs	p.IV20fs	AC079630.4_ENST00000412812.1_RNA|LRRK2_ENST00000343742.2_Frame_Shift_Del_p.IV20fs	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	20					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGTTGATAGTCAGGCTGAACA	0.544																																						uc001rmg.4																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(58-63)atagtcfs		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.																																				SO:0001589	frameshift_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40618993_40618996delAGTC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.60_63delAGTC	12.37:g.40618993_40618996delAGTC	ENSP00000298910:p.Ile20fs						p.I20fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			0	181_184	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	20					A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	ENST00000298910.7	37	c.60_63delAGTC	CCDS31774.1																																																																																				0.544	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		-	40618996	AGTC	-	40618993	7	5	204	1	0	1	0	1	0	0	0	0	9033	410	15	0	62	0	LRRK2	12	40618993	Frame_Shift_Del	DEL	AGTC	TCGA-28-2509-01A-01D-1494-08		40618993	93232902	35	14315											
PTPRB	5787	broad.mit.edu	37	chr12	70928634	70928634	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgcatatcttaaactcccgGatggtccactcaggcaggac	10	8	9	14	2	2	0	1	0	1	0	4	2	4	2	3	4	1	2	3	4	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:70928634G>A	ENST00000261266.5	-	28	5558	c.5529C>T	c.(5527-5529)atC>atT	p.I1843I	RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Silent_p.I1753I|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.I1973I|PTPRB_ENST00000334414.6_Silent_p.I2061I|PTPRB_ENST00000451516.2_Silent_p.I1753I|PTPRB_ENST00000538708.1_Silent_p.I1753I|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1843	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAACTCCCGGATGGTCCACT	0.512																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5527-5529)atC>atT		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							67	66	66					12																	70928634		1948	4162	6110	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70928634G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5529C>T	12.37:g.70928634G>A						BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1753I|PTPRB_uc010stp.2_Silent_p.I1753I|PTPRB_uc001swc.4_Silent_p.I2061I|PTPRB_uc001swa.4_Silent_p.I1973I	p.I1843I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		27	5559	-	Renal(347;0.236)		1843			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5529C>T	CCDS44944.1																																																																																				0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			A	70928634	G	A	70928634	2	1	204	1	0	0	0	0	0	0	0	1	12796	1164	41	3		3	PTPRB	12	70928634	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	30309641	70928634	62923261	36	14316											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100451481	100451482	+	Frame_Shift_Del	DEL	AG	AG	-																															catattcttataagaaacacAgagaggagccaggttgggtg																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:100451481_100451482delAG	ENST00000279907.7	-	15	3503_3504	c.3291_3292delCT	c.(3289-3294)ctctgtfs	p.C1098fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.C748fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1098										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAGAAACACAGAGAGGAGCCA	0.332																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3289-3294)ctctgtfs		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23074							g.chr12:100451481_100451482delAG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3291_3292delCT	12.37:g.100451485_100451486delAG	ENSP00000279907:p.Cys1098fs					UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.L747fs	p.L1097fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	3520_3521	-			1097					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	ENST00000279907.7	37	c.3291_3292delCT	CCDS31882.1																																																																																				0.332	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		-	100451482	AG	-	100451481	7	5	204	1	0	1	0	1	0	0	0	0	16966	188	7	0	1130	0	UHRF1BP1L	12	100451481	Frame_Shift_Del	DEL	AG	TCGA-28-2509-01A-01D-1494-08	29522847	100451481	33400414	37	14317											
SLC24A6	80024	broad.mit.edu	37	chr12	113737741	113737741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggctgagccccagggcGcctgccaggacccacaccag	9	2	13	17	2	0	1	0	1	0	0	0	3	0	2	6	3	2	1	6	3	0	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:113737741G>A	ENST00000552014.1	-	17	2111	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	SLC8B1_ENST00000550047.1_Silent_p.G47G|SLC8B1_ENST00000202831.3_Silent_p.G532G|SLC8B1_ENST00000546737.1_Silent_p.G476G|SLC8B1_ENST00000549069.1_Silent_p.G91G			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	532					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										GCCCCAGGGCGCCTGCCAGGA	0.627																																						uc001tvc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1594-1596)ggC>ggT		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.							54	55	55					12																	113737741		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113737741G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1596C>T	12.37:g.113737741G>A						SLC24A6_uc001tuz.3_Silent_p.G237G|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.G270G	p.G532G	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			15	1806	-			532					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1596C>T	CCDS31909.1																																																																																				0.627	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		A	113737741	G	A	113737741	2	1	204	1	0	0	0	0	0	0	0	1	14470	1074	38	1		1	SLC24A6	12	113737741	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	13286260	113737741	20114154	38	14318											
KSR2	283455	broad.mit.edu	37	chr12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccacaaagaaggagcGgagggagcgctcggacagca	12	3	16	10	3	0	1	0	0	0	1	2	5	1	5	1	4	3	2	1	4	2	0	rs373055394		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:118105354G>A	ENST00000339824.5	-	5	1823	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	KSR2_ENST00000302438.5_Missense_Mutation_p.R63C|KSR2_ENST00000425217.1_Missense_Mutation_p.R337C|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	366					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602																																						uc001two.2																			1	Substitution - Missense(1)	p.R398C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1009-1011)Cgc>Tgc		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.		G	CYS/ARG	1,4115		0,1,2057	49	55	53		1009	4.8	1	12		53	1,8361		0,1,4180	no	missense	KSR2	NM_173598.4	180	0,2,6237	AA,AG,GG		0.012,0.0243,0.016	probably-damaging	337/922	118105354	2,12476	2058	4181	6239	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118105354G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1096C>T	12.37:g.118105354G>A	ENSP00000339952:p.Arg366Cys						p.R337C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	1064	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		366					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1009C>T		.	.	.	.	.	.	.	.	.	.	G	23.4	4.407751	0.83340	2.43E-4	1.2E-4	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.52754	0.65;0.65;0.65	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000003	T	0.52224	0.1721	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.60125	-0.7324	10	0.59425	D	0.04	.	16.9372	0.86206	0.0:0.0:1.0:0.0	.	366	Q6VAB6	KSR2_HUMAN	C	337;366;63;38	ENSP00000389715:R337C;ENSP00000339952:R366C;ENSP00000305466:R63C	ENSP00000305466:R63C	R	-	1	0	KSR2	116589737	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.532000	0.81985	2.356000	0.79943	0.462000	0.41574	CGC		0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		A	118105354	G	A	118105354	3	1	204	1	0	0	0	0	1	0	0	0	8582	1116	39	2	1820	2	KSR2	12	118105354	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	4367613	118105354	15746541	39	14319											
GCN1L1	10985	broad.mit.edu	37	chr12	120628101	120628101	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatgaaaaataaatacCttttccagcaacacacttcc	15	11	5	10	0	0	1	0	1	0	0	2	2	2	2	3	1	3	1	3	1	6	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:120628101C>T	ENST00000300648.6	-	2	133	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	41					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATAAATACCTTTTCCAGCA	0.393																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.e2+1		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							121	120	120					12																	120628101		1862	4100	5962	SO:0001630	splice_region_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120628101C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.121+1G>A	12.37:g.120628101C>T							p.D41_splice	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			2	134	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		41					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.121_splice	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594392	0.28445	.	.	ENSG00000089154	ENST00000300648	T	0.44881	0.91	5.75	4.87	0.63330	.	0.276882	0.39615	N	0.001305	T	0.25865	0.0630	N	0.12182	0.205	0.48511	D	0.999669	B	0.17852	0.024	B	0.10450	0.005	T	0.05162	-1.0902	9	.	.	.	.	15.0835	0.72133	0.0:0.9321:0.0:0.0679	.	41	Q92616	GCN1L_HUMAN	N	41	ENSP00000300648:D41N	.	D	-	1	0	GCN1L1	119112484	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	4.481000	0.60250	1.448000	0.47680	-0.217000	0.12591	GAT		0.393	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Missense_Mutation	T	120628101	C	T	120628101	5	4	204	1	0	0	0	0	0	0	1	0	6299	695	24	3	8122	3	GCN1L1	12	120628101	Splice_Site	SNP	C	TCGA-28-2509-01A-01D-1494-08	2522747	120628101	13223794	40	14320											
NEK3	4752	broad.mit.edu	37	chr13	52728302	52728302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaattctgtgtattagAgaaagactagaaaaacattt	17	12	7	5	0	1	4	0	0	1	4	1	5	1	4	1	0	1	1	1	0	8	6			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr13:52728302A>G	ENST00000400357.2	-	2	1417	c.124T>C	c.(124-126)Tct>Cct	p.S42P	NEK3_ENST00000339406.3_Missense_Mutation_p.S42P|NEK3_ENST00000452082.2_Missense_Mutation_p.S63P|NEK3_ENST00000378101.2_Missense_Mutation_p.S42P			P51956	NEK3_HUMAN	NIMA-related kinase 3	42	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTGTATTAGAGAAAGACTAG	0.284																																						uc001vgh.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(187-189)Tct>Cct		Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.							30	28	29					13																	52728302		1795	4068	5863	SO:0001583	missense	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52728302A>G	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.124T>C	13.37:g.52728302A>G	ENSP00000383210:p.Ser42Pro					NEK3_uc001vgi.3_Missense_Mutation_p.S42P|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.S42P	p.S63P	NM_001146099	NP_001139571	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	1	1418	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	42			Interaction with VAV2.|Protein kinase.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	c.187T>C	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512298	0.44660	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000550841	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.98	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.338773	0.36200	N	0.002730	T	0.75657	0.3879	.	.	.	0.26788	N	0.969464	B;D	0.89917	0.066;1.0	B;D	0.76071	0.105;0.987	T	0.66069	-0.6015	9	0.59425	D	0.04	.	4.5817	0.12262	0.6644:0.0:0.2039:0.1317	.	42;63	P51956;Q6ZN64	NEK3_HUMAN;.	P	42;42;42;63;42	ENSP00000339429:S42P;ENSP00000367341:S42P;ENSP00000383210:S42P;ENSP00000404197:S63P;ENSP00000449679:S42P	ENSP00000448782:S42P	S	-	1	0	NEK3	51626303	0.906000	0.30813	0.142000	0.22268	0.607000	0.37147	1.446000	0.35090	0.482000	0.27582	0.482000	0.46254	TCT		0.284	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			G	52728302	A	G	52728302	3	3	204	1	0	0	0	0	1	0	0	0	10325	304	11	4	1452	4	NEK3	13	52728302	Missense_Mutation	SNP	A	TCGA-28-2509-01A-01D-1494-08		52728302	62441576	41	14321											
RIN3	79890	broad.mit.edu	37	chr14	93022210	93022210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccggggcatcagcatcctGgagaagctcatcaaaacatg	12	6	11	12	2	3	1	3	0	0	1	4	2	4	1	2	3	3	3	2	3	3	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr14:93022210G>A	ENST00000216487.7	+	2	318	c.159G>A	c.(157-159)ctG>ctA	p.L53L		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	53					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCAGCATCCTGGAGAAGCTCA	0.612																																						uc001yap.3																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(157-159)ctG>ctA		Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.							59	57	58					14																	93022210		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93022210G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.159G>A	14.37:g.93022210G>A						RIN3_uc010auk.3_5'UTR	p.L53L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			1	311	+		all_cancers(154;0.0701)	53					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.159G>A	CCDS32144.1																																																																																				0.612	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			A	93022210	G	A	93022210	2	1	204	1	0	0	0	0	0	0	0	1	13373	1335	47	3		3	RIN3	14	93022210	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		93022210	14327330	42	14322											
TJP1	7082	broad.mit.edu	37	chr15	30053400	30053400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaggctctgaccgctGgtcaggagatcgtgaccggc	9	7	14	11	3	3	4	2	2	1	2	4	5	3	4	2	4	0	2	2	4	1	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:30053400G>A	ENST00000346128.6	-	8	1426	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q322*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q318*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q318*|TJP1_ENST00000495972.2_Nonsense_Mutation_p.Q318*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	318					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGACCGCTGGTCAGGAGAT	0.488																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(952-954)Cag>Tag		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							46	51	49					15																	30053400		1923	4122	6045	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30053400G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.952C>T	15.37:g.30053400G>A	ENSP00000281537:p.Gln318*					TJP1_uc010azl.3_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q318*	p.Q318*	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	7	1427	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	318					B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.952C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168059	0.94768	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	4.75	4.75	0.60458	.	0.135817	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.119	0.89565	0.0:0.0:1.0:0.0	.	.	.	.	X	318;322;318;318;318	.	.	Q	-	1	0	TJP1	27840692	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	4.596000	0.61055	2.360000	0.80028	0.585000	0.79938	CAG		0.488	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30053400	G	A	30053400	4	1	204	1	0	0	0	0	0	1	0	0	15926	1357	47	3	4378	3	TJP1	15	30053400	Nonsense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		30053400	72477992	43	14323											
MAPKBP1	23005	broad.mit.edu	37	chr15	42067489	42067489	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatggctgtggaagggTcaaccattaccagccggatc	11	9	11	10	1	2	0	2	0	0	0	3	2	2	2	3	4	3	1	3	4	4	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:42067489T>G	ENST00000456763.2	+	2	212	c.16T>G	c.(16-18)Tca>Gca	p.S6A	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S6A|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S6A|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S6A|RP11-107F6.3_ENST00000562063.1_lincRNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	6										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGTGGAAGGGTCAACCATTAC	0.557																																						uc001zok.4																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(16-18)Tca>Gca		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							93	81	85					15																	42067489		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42067489T>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.16T>G	15.37:g.42067489T>G	ENSP00000393099:p.Ser6Ala					MAPKBP1_uc010bci.3_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR	p.S6A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	1	302	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	6					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.16T>G	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946373	0.53079	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	T;T;T;T;T	0.58506	1.22;1.39;1.26;1.34;0.33	6.0	3.68	0.42216	.	0.476561	0.20415	N	0.092795	T	0.41166	0.1147	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30914	0.131;0.012;0.3	B;B;B	0.29785	0.033;0.005;0.107	T	0.31503	-0.9941	10	0.48119	T	0.1	-6.7341	5.9852	0.19430	0.1465:0.078:0.0:0.7755	.	6;6;6	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	A	6	ENSP00000397570:S6A;ENSP00000221214:S6A;ENSP00000393099:S6A;ENSP00000426154:S6A;ENSP00000422132:S6A	ENSP00000221214:S6A	S	+	1	0	MAPKBP1	39854781	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.630000	0.46494	1.063000	0.40649	0.451000	0.29950	TCA		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		G	42067489	T	G	42067489	3	3	204	1	0	0	0	0	1	0	0	0	9292	1667	58	5	18	5	MAPKBP1	15	42067489	Missense_Mutation	SNP	T	TCGA-28-2509-01A-01D-1494-08	12014089	42067489	60463903	44	14324											
SEMA7A	8482	broad.mit.edu	37	chr15	74708161	74708161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggttggagaaaacacCatagaccctggtgtccctcc	10	7	11	13	0	0	2	0	0	0	2	2	3	2	2	5	4	1	1	5	4	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:74708161C>T	ENST00000261918.4	-	8	1515	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	SEMA7A_ENST00000542748.1_Missense_Mutation_p.G158S|SEMA7A_ENST00000543145.2_Missense_Mutation_p.G309S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	323	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGAAAACACCATAGACCCTG	0.612																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(967-969)Ggt>Agt		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							78	65	70					15																	74708161		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708161C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.967G>A	15.37:g.74708161C>T	ENSP00000261918:p.Gly323Ser					SEMA7A_uc010ulk.2_Missense_Mutation_p.G158S|SEMA7A_uc010ull.2_Missense_Mutation_p.G309S	p.G323S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN			7	1007	-			323			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.967G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677412	0.88445	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.18502	2.21;2.21;2.21	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.055628	0.64402	D	0.000001	T	0.50069	0.1594	M	0.90814	3.15	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.61530	-0.7044	10	0.87932	D	0	-25.3686	16.0097	0.80391	0.0:1.0:0.0:0.0	.	309;323	F5H1S0;O75326	.;SEM7A_HUMAN	S	323;309;158	ENSP00000261918:G323S;ENSP00000438966:G309S;ENSP00000441493:G158S	ENSP00000261918:G323S	G	-	1	0	SEMA7A	72495214	0.957000	0.32711	0.995000	0.50966	0.868000	0.49771	4.997000	0.63921	2.364000	0.80123	0.655000	0.94253	GGT		0.612	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		T	74708161	C	T	74708161	3	4	204	1	0	0	0	0	1	0	0	0	14043	594	21	3	1061	3	SEMA7A	15	74708161	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	32640672	74708161	27823231	45	14325											
FBXO22	26263	broad.mit.edu	37	chr15	76196838	76196838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttgcgtcctcagcgtgtgCcgcttatggagggagtgtgt	4	13	16	8	3	1	0	1	0	0	0	2	2	2	2	2	2	3	2	2	2	1	2	rs370914225		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:76196838C>T	ENST00000308275.3	+	2	252	c.147C>T	c.(145-147)tgC>tgT	p.C49C	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Silent_p.C49C	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	49	F-box.				cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGCGTGTGCCGCTTATGGA	0.622																																						uc002bbk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(145-147)tgC>tgT		Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.		C	,	1,4393	2.1+/-5.4	0,1,2196	136	114	121		147,147	2.2	1	15		121	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	FBXO22	NM_012170.3,NM_147188.2	,	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	,	49/277,49/404	76196838	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76196838C>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.147C>T	15.37:g.76196838C>T						FBXO22_uc002bbj.2_Silent_p.C49C|FBXO22_uc002bbl.3_Intron	p.C49C	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			1	252	+			49			F-box.		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Silent	SNP	ENST00000308275.3	37	c.147C>T	CCDS10287.1																																																																																				0.622	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		T	76196838	C	T	76196838	2	4	204	1	0	0	0	0	0	0	0	1	5734	747	26	3		3	FBXO22	15	76196838	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	1488677	76196838	26334554	46	14326											
ZNF174	7727	broad.mit.edu	37	chr16	3458790	3458790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggaaactgctttgggcgGcagtcaaccctgaagctgca	9	9	13	10	1	1	1	1	1	0	0	1	2	1	2	1	3	5	4	1	3	3	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:3458790G>A	ENST00000268655.4	+	3	1680	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	ZNF174_ENST00000571936.1_Silent_p.R365R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	365					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GCTTTGGGCGGCAGTCAACCC	0.542																																						uc002cvc.3																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(1093-1095)cgG>cgA		Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.							49	57	54					16																	3458790		2197	4300	6497	SO:0001819	synonymous_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3458790G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1095G>A	16.37:g.3458790G>A							p.R365R	NM_003450	NP_003441	Q15697	ZN174_HUMAN			2	1910	+			365					Q53Y68|Q9BQ34	Silent	SNP	ENST00000268655.4	37	c.1095G>A	CCDS10504.1																																																																																				0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		A	3458790	G	A	3458790	2	1	204	1	0	0	0	0	0	0	0	1	17741	1190	42	3		3	ZNF174	16	3458790	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		3458790	86895963	47	14327											
DNAH3	55567	broad.mit.edu	37	chr16	21080833	21080833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctctgaactgaagattGgttccaggtacagccaggtg	9	11	12	9	0	1	3	0	2	1	1	3	3	3	3	3	3	3	2	3	3	3	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:21080833G>A	ENST00000261383.3	-	23	3283	c.3284C>T	c.(3283-3285)cCa>cTa	p.P1095L	DNAH3_ENST00000415178.1_Missense_Mutation_p.P1095L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1095	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGAAGATTGGTTCCAGGTA	0.438																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3283-3285)cCa>cTa		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							196	158	171					16																	21080833		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080833G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3284C>T	16.37:g.21080833G>A	ENSP00000261383:p.Pro1095Leu						p.P1095L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3284	-			1095			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3284C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033594	0.93575	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63096	-0.02;-0.02	5.15	5.15	0.70609	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	D	0.85936	0.5813	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90122	0.4200	10	0.87932	D	0	.	18.9997	0.92828	0.0:0.0:1.0:0.0	.	1095	Q8TD57	DYH3_HUMAN	L	1095	ENSP00000261383:P1095L;ENSP00000394245:P1095L	ENSP00000261383:P1095L	P	-	2	0	DNAH3	20988334	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	7.939000	0.87685	2.580000	0.87095	0.655000	0.94253	CCA		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21080833	G	A	21080833	3	1	204	1	0	0	0	0	1	0	0	0	4603	1348	47	3	9225	3	DNAH3	16	21080833	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	17622043	21080833	69273920	48	14328											
SRCAP	10847	broad.mit.edu	37	chr16	30734359	30734359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggatggactgactcCtgttcctccattggccccag	5	10	10	16	1	0	1	0	1	0	0	4	3	3	3	6	3	0	1	6	3	0	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30734359C>G	ENST00000262518.4	+	24	4353	c.3968C>G	c.(3967-3969)cCt>cGt	p.P1323R	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1261R|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1165R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1323	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACTGACTCCTGTTCCTCCA	0.587																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3967-3969)cCt>cGt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							92	92	92					16																	30734359		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30734359C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3968C>G	16.37:g.30734359C>G	ENSP00000262518:p.Pro1323Arg					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R	p.P1323R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4353	+			1323			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3968C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727530	0.48833	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92099	-2.97;-2.88;-2.78	5.83	5.83	0.93111	.	0.114545	0.40144	N	0.001171	D	0.89153	0.6634	N	0.14661	0.345	0.35734	D	0.818146	P;P;P	0.44478	0.836;0.836;0.747	P;P;B	0.48425	0.577;0.577;0.373	D	0.92619	0.6106	10	0.66056	D	0.02	-8.4777	17.0352	0.86473	0.0:1.0:0.0:0.0	.	1165;1261;1323	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	1323;1261;1165	ENSP00000262518:P1323R;ENSP00000378499:P1261R;ENSP00000343042:P1165R	ENSP00000262518:P1323R	P	+	2	0	SRCAP	30641860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.765000	0.62271	2.769000	0.95229	0.655000	0.94253	CCT		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30734359	C	G	30734359	3	3	204	1	0	0	0	0	1	0	0	0	15134	681	24	5	4054	5	SRCAP	16	30734359	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	9653526	30734359	59620394	49	14329											
SRCAP	10847	broad.mit.edu	37	chr16	30749342	30749342	+	Frame_Shift_Del	DEL	G	G	-																															tcccaccctcagcagcatctGatgagccacttcaggagcca																								rs576461942	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30749342delG	ENST00000262518.4	+	34	8366	c.7981delG	c.(7981-7983)gatfs	p.D2661fs	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.D2599fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.D2503fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2661	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGCATCTGATGAGCCACT	0.602																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7981-7983)gatfs		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							60	54	56					16																	30749342		2197	4300	6497	SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749342delG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7981delG	16.37:g.30749342delG	ENSP00000262518:p.Asp2661fs					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs	p.D2661fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	8366	+			2661			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.7981delG	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		-	30749342	G	-	30749342	7	5	204	1	0	1	0	1	0	0	0	0	15134	1290	45	0	8107	0	SRCAP	16	30749342	Frame_Shift_Del	DEL	G	TCGA-28-2509-01A-01D-1494-08	14983	30749342	59605411	50	14330											
RLTPR	146206	broad.mit.edu	37	chr16	67683468	67683468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatcagcggcaacgccatggGggacgcgggcgccaagttgc	8	5	16	12	5	1	0	1	0	0	0	1	1	1	1	2	4	3	2	2	4	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:67683468G>A	ENST00000334583.6	+	20	2193	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	RLTPR_ENST00000545661.1_Missense_Mutation_p.G586E	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	622	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACGCCATGGGGGACGCGGGC	0.701																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1864-1866)gGg>gAg		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							22	25	24					16																	67683468		1965	4132	6097	SO:0001583	missense	146206							g.chr16:67683468G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1865G>A	16.37:g.67683468G>A	ENSP00000334958:p.Gly622Glu					RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.2_Missense_Mutation_p.G586E	p.G622E	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	1985	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	622			Tropomodulin-like.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.1865G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595249	0.86953	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.71461	-0.57;-0.57	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84386	0.0552	10	0.37606	T	0.19	-8.4601	18.1015	0.89507	0.0:0.0:1.0:0.0	.	586;622	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	E	622;586	ENSP00000334958:G622E;ENSP00000441481:G586E	ENSP00000334958:G622E	G	+	2	0	RLTPR	66240969	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.907000	0.63300	2.390000	0.81377	0.561000	0.74099	GGG		0.701	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		A	67683468	G	A	67683468	3	1	204	1	0	0	0	0	1	0	0	0	13394	1232	43	3	1943	3	RLTPR	16	67683468	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	36934126	67683468	22671285	51	14331											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655|rs397516437		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:7577556C>T	ENST00000269305.4	-	7	914	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000420246.2_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C242Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(156)|p.C242Y(85)|p.S241F(78)|p.C242S(43)|p.S241C(24)|p.C242fs*5(16)|p.C242R(12)|p.S241A(9)|p.S241fs*6(9)|p.0?(8)|p.S241Y(8)|p.C242W(7)|p.N239_C242delNSSC(6)|p.C149F(6)|p.S241T(6)|p.S241del(5)|p.?(5)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242G(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242fs*98(2)|p.C149Y(2)|p.H233_C242del10(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.C242fs*23(1)|p.N239fs*4(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM910618	TP53	M	rs121912655	c.(724-726)tGc>tAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							140	107	119					17																	7577556		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577556C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>A	17.37:g.7577556C>T	ENSP00000269305:p.Cys242Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.3_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.C242Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.725G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430778	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242Y;ENSP00000352610:C242Y;ENSP00000269305:C242Y;ENSP00000398846:C242Y;ENSP00000391127:C242Y;ENSP00000391478:C242Y;ENSP00000425104:C110Y;ENSP00000423862:C149Y	ENSP00000269305:C242Y	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577556	C	T	7577556	3	4	204	1	0	0	0	0	1	0	0	0	16378	710	25	3	565	3	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		7577556	73617654	52	14332											
MYH8	4626	broad.mit.edu	37	chr17	10304743	10304743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggtttcatccaggcctGccatctcttctgtaagattt	8	15	7	11	0	3	1	1	0	2	1	5	1	4	1	3	2	1	2	3	2	2	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:10304743G>A	ENST00000403437.2	-	24	3051	c.2957C>T	c.(2956-2958)gCa>gTa	p.A986V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	986					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCAGGCCTGCCATCTCTTC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2956-2958)gCa>gTa		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							117	120	119					17																	10304743		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304743G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2957C>T	17.37:g.10304743G>A	ENSP00000384330:p.Ala986Val					AK097500_uc002gml.1_Intron	p.A986V	NM_002472	NP_002463	P13535	MYH8_HUMAN			23	3052	-			986					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2957C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724958	0.89298	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83591	-1.74	5.65	5.65	0.86999	.	0.000000	0.41396	U	0.000888	D	0.87144	0.6104	M	0.78456	2.415	0.58432	D	0.999999	P	0.42010	0.768	P	0.44811	0.461	D	0.88223	0.2898	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	986	P13535	MYH8_HUMAN	V	986	ENSP00000384330:A986V	ENSP00000252173:A986V	A	-	2	0	MYH8	10245468	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.368000	0.79567	2.941000	0.99782	0.655000	0.94253	GCA		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10304743	G	A	10304743	3	1	204	1	0	0	0	0	1	0	0	0	10041	1319	46	3	2924	3	MYH8	17	10304743	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	2727187	10304743	70890467	53	14333											
CNDP1	84735	broad.mit.edu	37	chr18	72226676	72226676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcgcctgggggcccGtgtggcctcggtggacatgg	3	7	19	12	3	0	0	0	0	0	0	1	1	0	1	3	6	2	2	3	6	0	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr18:72226676G>A	ENST00000358821.3	+	3	500	c.272G>A	c.(271-273)cGt>cAt	p.R91H	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.R48H	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	91						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGGGGCCCGTGTGGCCTCG	0.632																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(271-273)cGt>cAt		Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.							54	53	53					18																	72226676		2202	4300	6502	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72226676G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.272G>A	18.37:g.72226676G>A	ENSP00000351682:p.Arg91His					BC047599_uc002llr.3_Non-coding_Transcript	p.R91H	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	2	483	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	91					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.272G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406826	0.11754	.	.	ENSG00000150656	ENST00000358821	T	0.08102	3.13	5.37	-1.24	0.09435	.	0.393818	0.29830	N	0.011086	T	0.03695	0.0105	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36114	-0.9761	10	0.45353	T	0.12	-1.0742	6.7716	0.23596	0.3611:0.2746:0.3644:0.0	.	91	Q96KN2	CNDP1_HUMAN	H	91	ENSP00000351682:R91H	ENSP00000351682:R91H	R	+	2	0	CNDP1	70377656	0.000000	0.05858	0.043000	0.18650	0.003000	0.03518	-0.118000	0.10692	0.005000	0.14708	-0.929000	0.02709	CGT		0.632	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		A	72226676	G	A	72226676	3	1	204	1	0	0	0	0	1	0	0	0	3593	1145	40	1	282	1	CNDP1	18	72226676	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		72226676	5850572	54	14334											
TMEM146	257062	broad.mit.edu	37	chr19	5776309	5776309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtcttctacatttcgatCgtggatccgtactacaggtg	8	15	9	9	3	2	0	0	0	2	0	5	2	3	1	1	2	3	1	1	2	4	6	rs573139640	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:5776309C>T	ENST00000381624.3	+	21	2140	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	693					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACATTTCGATCGTGGATCCGT	0.582																																						uc002mda.3																			0											c.(2077-2079)atC>atT		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							83	83	83					19																	5776309		1930	4130	6060	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5776309C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2079C>T	19.37:g.5776309C>T							p.I693I	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			20	2140	+			693					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.2079C>T	CCDS12149.2																																																																																				0.582	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		T	5776309	C	T	5776309	2	4	204	1	0	0	0	0	0	0	0	1	16057	874	31	2		2	TMEM146	19	5776309	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08		5776309	53352674	55	14335											
MUC16	94025	broad.mit.edu	37	chr19	9090864	9090864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcattgtgctggctctGgcctcgggcaccccaggaga	5	9	15	12	1	1	1	0	0	1	1	2	2	1	1	3	5	1	4	3	5	0	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:9090864G>A	ENST00000397910.4	-	1	1154	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	317	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGGCTCTGGCCTCGGGCA	0.498																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(949-951)gcC>gcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							100	103	102					19																	9090864		2035	4191	6226	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090864G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.951C>T	19.37:g.9090864G>A							p.A317A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	1155	-			317			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.951C>T	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9090864	G	A	9090864	2	1	204	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	9090864	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	3314555	9090864	50038119	56	14336											
MAST1	22983	broad.mit.edu	37	chr19	12979571	12979571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggcaccagcagatgtcagGggatgtggcagtagagaaga	12	5	17	7	1	1	3	1	0	0	3	1	5	1	4	1	4	1	4	1	4	2	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:12979571G>A	ENST00000251472.4	+	21	2720	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.G894E(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATGTCAGGGGATGTGGCA	0.577																																						uc002mvm.3																			2	Substitution - Missense(2)	p.G894E(3)	large_intestine(2)	NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2680-2682)gGg>gAg		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							102	102	102					19																	12979571		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12979571G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2681G>A	19.37:g.12979571G>A	ENSP00000251472:p.Gly894Glu						p.G894E	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			20	2809	+			894						Missense_Mutation	SNP	ENST00000251472.4	37	c.2681G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021554	0.54576	.	.	ENSG00000105613	ENST00000251472	T	0.66638	-0.22	4.83	4.83	0.62350	.	0.178072	0.37437	N	0.002098	T	0.77877	0.4196	M	0.68593	2.085	0.50813	D	0.999897	D	0.58620	0.983	P	0.61592	0.891	T	0.79376	-0.1829	10	0.51188	T	0.08	-31.6306	15.4002	0.74834	0.0:0.0:1.0:0.0	.	894	Q9Y2H9	MAST1_HUMAN	E	894	ENSP00000251472:G894E	ENSP00000251472:G894E	G	+	2	0	MAST1	12840571	1.000000	0.71417	0.970000	0.41538	0.144000	0.21451	4.141000	0.58038	2.242000	0.73789	0.561000	0.74099	GGG		0.577	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		A	12979571	G	A	12979571	3	1	204	1	0	0	0	0	1	0	0	0	9324	1232	43	3	2763	3	MAST1	19	12979571	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	3888707	12979571	46149412	57	14337											
ZNF626	199777	broad.mit.edu	37	chr19	20808078	20808078	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccacattcttcacatTtgtagggtttccctccagta	7	16	6	12	0	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	2	7			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:20808078T>A	ENST00000601440.1	-	4	751	c.605A>T	c.(604-606)aAa>aTa	p.K202I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTCTTCACATTTGTAGGGTTT	0.368																																						uc002npb.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(604-606)aAa>aTa		Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.							50	52	51					19																	20808078		2127	4265	6392	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808078T>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.605A>T	19.37:g.20808078T>A	ENSP00000469958:p.Lys202Ile					ZNF626_uc002npc.1_Missense_Mutation_p.K126I	p.K202I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			3	755	-			202					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.605A>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	5.597	0.294934	0.10622	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46541	0.1398	M	0.71920	2.185	0.09310	N	1	B	0.15141	0.012	B	0.33295	0.161	T	0.51841	-0.8654	8	0.54805	T	0.06	.	3.5235	0.07751	0.0:0.0:0.4176:0.5824	.	202	Q68DY1	ZN626_HUMAN	I	202;126;202	.	ENSP00000445201:K202I	K	-	2	0	ZNF626	20599918	0.000000	0.05858	0.131000	0.22000	0.131000	0.20780	-1.231000	0.02939	0.141000	0.18875	0.139000	0.15985	AAA		0.368	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		A	20808078	T	A	20808078	3	1	204	1	0	0	0	0	1	0	0	0	18047	1841	64	5	985	5	ZNF626	19	20808078	Missense_Mutation	SNP	T	TCGA-28-2509-01A-01D-1494-08	7828507	20808078	38320905	58	14338											
FKRP	79147	broad.mit.edu	37	chr19	47258817	47258817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctaggaattcccgggcccGggggccccgtcgtgcctctg	3	7	15	16	4	1	0	0	0	1	0	3	1	2	1	6	4	1	0	6	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:47258817G>A	ENST00000318584.5	+	4	407	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	FKRP_ENST00000391909.3_Missense_Mutation_p.R37Q|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	37					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCGGGCCCGGGGGCCCCGT	0.677																																						uc002pfn.2																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(109-111)cGg>cAg		Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.							14	15	15					19																	47258817		2189	4286	6475	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47258817G>A	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.110G>A	19.37:g.47258817G>A	ENSP00000326570:p.Arg37Gln					FKRP_uc002pfp.2_Missense_Mutation_p.R37Q|FKRP_uc021uwj.1_Missense_Mutation_p.R37Q	p.R37Q	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	3	407	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	37					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.110G>A	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471656	0.12461	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99483	-5.99;-5.99	4.79	4.79	0.61399	.	1.108720	0.06840	N	0.795429	D	0.96396	0.8824	N	0.11427	0.14	0.35346	D	0.786904	D	0.60575	0.988	B	0.40741	0.339	D	0.93516	0.6857	10	0.09843	T	0.71	-21.3694	7.1049	0.25358	0.1831:0.0:0.8169:0.0	.	37	Q9H9S5	FKRP_HUMAN	Q	37	ENSP00000375776:R37Q;ENSP00000326570:R37Q	ENSP00000326570:R37Q	R	+	2	0	FKRP	51950657	0.041000	0.20044	0.982000	0.44146	0.105000	0.19272	1.001000	0.29783	2.492000	0.84095	0.555000	0.69702	CGG		0.677	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		A	47258817	G	A	47258817	3	1	204	1	0	0	0	0	1	0	0	0	5917	1116	39	2	112	2	FKRP	19	47258817	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	26450739	47258817	11870166	59	14339											
LILRB3	11025	broad.mit.edu	37	chr19	54724484	54724484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54724484G>A	ENST00000391750.1	-	7	1308	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Missense_Mutation_p.A391V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A391V|LILRB3_ENST00000245620.9_Missense_Mutation_p.A391V|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.A391V|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.A391V|LILRA6_ENST00000440558.2_Missense_Mutation_p.A391V			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	391	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.607																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1171-1173)gCg>gTg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							39	28	32					19																	54724484		2199	4149	6348	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54724484G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1172C>T	19.37:g.54724484G>A	ENSP00000375630:p.Ala391Val					LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qef.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	p.A391V	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1296	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		391			Ig-like C2-type 4.		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1172C>T	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207041	0.22205	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464	T;T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0;4.0	2.88	-2.83	0.05769	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.213430	0.06219	N	0.686499	T	0.03871	0.0109	M	0.68593	2.085	0.09310	N	1	B;B;B;P;B;B	0.41710	0.034;0.13;0.13;0.76;0.232;0.293	B;B;B;B;B;B	0.32762	0.152;0.016;0.064;0.117;0.055;0.127	T	0.36311	-0.9753	10	0.54805	T	0.06	.	2.2269	0.03986	0.1693:0.3093:0.3947:0.1268	.	391;391;391;391;391;391	B5MCX0;F8WCY4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;LIRB3_HUMAN;.	V	391	ENSP00000375630:A391V;ENSP00000412771:A391V;ENSP00000345184:A391V;ENSP00000245620:A391V;ENSP00000384274:A391V;ENSP00000390120:A391V;ENSP00000270464:A391V	ENSP00000270464:A391V	A	-	2	0	LILRB3;LILRA6	59416296	0.000000	0.05858	0.006000	0.13384	0.068000	0.16541	-0.791000	0.04599	-0.385000	0.07833	-0.494000	0.04653	GCG		0.607	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54724484	G	A	54724484	3	1	204	1	0	0	0	0	1	0	0	0	8792	1087	38	1	758	1	LILRB3	19	54724484	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	7465667	54724484	4404499	60	14340											
LILRA6	79168	broad.mit.edu	37	chr19	54744236	54744236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54744236G>A	ENST00000396365.2	-	6	1211	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.A391V|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.A391V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	391	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A391V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.592																																						uc010erh.1																			1	Substitution - Missense(1)	p.A391V(1)	endometrium(1)	endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							68	96	87					19																	54744236		2203	4296	6499	SO:0001583	missense	79168				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54744236G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1172C>T	19.37:g.54744236G>A	ENSP00000379651:p.Ala391Val					LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.A391V|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Missense_Mutation_p.A391V|LILRB3_uc010yeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.A391V|LILRB3_uc002qev.1_Missense_Mutation_p.A252V		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015702	0.19355	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.03242	4.0;4.0;4.0	2.39	-4.78	0.03209	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.213430	0.06219	N	0.686499	T	0.05318	0.0141	M	0.75085	2.285	0.09310	N	1	B;B;B	0.31817	0.241;0.271;0.341	B;B;B	0.28139	0.025;0.05;0.086	T	0.07947	-1.0746	10	0.46703	T	0.11	.	5.9955	0.19491	0.0:0.3583:0.4208:0.221	.	391;391;391	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	V	391	ENSP00000411227:A391V;ENSP00000379651:A391V;ENSP00000245621:A391V	ENSP00000245621:A391V	A	-	2	0	LILRA6	59436048	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-2.324000	0.01116	-2.421000	0.00563	0.195000	0.17529	GCG		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744236	G	A	54744236	3	1	204	1	0	0	0	0	1	0	0	0	8789	1087	38	1	285	1	LILRA6	19	54744236	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	19752	54744236	4384747	61	14341											
ERG	2078	broad.mit.edu	37	chr21	39764312	39764312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctttcgactggggcGtggggtggccgtgaccggtc	3	10	17	11	4	0	1	0	1	0	0	2	2	0	1	3	6	1	1	3	6	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr21:39764312G>A	ENST00000417133.2	-	9	1006	c.821C>T	c.(820-822)aCg>aTg	p.T274M	ERG_ENST00000398905.1_Missense_Mutation_p.T243M|ERG_ENST00000398897.1_Missense_Mutation_p.T151M|ERG_ENST00000398907.1_Intron|ERG_ENST00000398910.1_Intron|ERG_ENST00000429727.2_Missense_Mutation_p.T148M|ERG_ENST00000288319.7_Missense_Mutation_p.T267M|ERG_ENST00000398911.1_Missense_Mutation_p.T250M|ERG_ENST00000442448.1_Missense_Mutation_p.T250M|ERG_ENST00000398919.2_Missense_Mutation_p.T274M|ERG_ENST00000453032.2_Missense_Mutation_p.T175M	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	311					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T274M(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CGACTGGGGCGTGGGGTGGCC	0.448			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.3				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	1	Substitution - Missense(1)	p.T274M(1)	endometrium(1)	lung(2)|ovary(1)|skin(1)	4						c.(820-822)aCg>aTg		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.							33	25	28					21																	39764312		2201	4293	6494	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39764312G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.821C>T	21.37:g.39764312G>A	ENSP00000414150:p.Thr274Met					ERG_uc021wjd.1_Missense_Mutation_p.T274M|ERG_uc002yxa.3_Missense_Mutation_p.T267M|ERG_uc011aek.2_Missense_Mutation_p.T175M|ERG_uc010gnv.3_Missense_Mutation_p.T151M|ERG_uc010gnx.3_Missense_Mutation_p.T250M|ERG_uc011ael.2_Missense_Mutation_p.T274M|ERG_uc002yxb.3_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_Non-coding_Transcript	p.T274M	NM_001243428	NP_001230357	P11308	ERG_HUMAN			8	1116	-		Prostate(19;3.6e-06)	274					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.821C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306132	0.40795	.	.	ENSG00000157554	ENST00000398905;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.15256	2.44;2.5;2.45;2.44;2.51;2.44;2.51;2.51	5.86	4.96	0.65561	.	0.970958	0.08411	N	0.949875	T	0.15955	0.0384	N	0.11560	0.145	0.23304	N	0.997949	D;B;B;B;P	0.52996	0.957;0.335;0.035;0.104;0.601	P;B;B;B;B	0.47251	0.542;0.083;0.052;0.112;0.136	T	0.39683	-0.9602	10	0.45353	T	0.12	.	14.8304	0.70142	0.0:0.1437:0.8563:0.0	.	148;274;243;250;267	B4E3C5;P11308;B5MDW0;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	M	243;267;151;250;274;250;175;274;148	ENSP00000381877:T243M;ENSP00000288319:T267M;ENSP00000381871:T151M;ENSP00000381882:T250M;ENSP00000414150:T274M;ENSP00000394694:T250M;ENSP00000396268:T175M;ENSP00000381891:T274M	ENSP00000288319:T267M	T	-	2	0	ERG	38686182	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	3.260000	0.51523	1.436000	0.47453	0.655000	0.94253	ACG		0.448	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39764312	G	A	39764312	3	1	204	1	0	0	0	0	1	0	0	0	5222	1145	40	1	655	1	ERG	21	39764312	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		39764312	8365583	62	14342											
HCCS	3052	broad.mit.edu	37	chrX	11139917	11139917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaagtcgcttggtggcGttggacctcgtaaagcactg	10	10	13	8	3	0	1	0	1	0	0	2	2	0	2	1	3	1	4	1	3	4	3	rs372501217		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:11139917G>A	ENST00000321143.4	+	7	996	c.794G>A	c.(793-795)cGt>cAt	p.R265H	HCCS_ENST00000380762.4_Missense_Mutation_p.R265H|HCCS_ENST00000380763.3_Missense_Mutation_p.R265H|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	265					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						GCTTGGTGGCGTTGGACCTCG	0.428																																					Ovarian(86;1338 1347 1462 10340 37882)	uc004cul.2																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(793-795)cGt>cAt		Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	110	86	94		794,794,794	5	1	X		94	1,6727		0,1,2427,1872	no	missense,missense,missense	HCCS	NM_001122608.2,NM_001171991.2,NM_005333.4	29,29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	265/269,265/269,265/269	11139917	1,10562	2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139917G>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.794G>A	X.37:g.11139917G>A	ENSP00000326579:p.Arg265His					HCCS_uc004cuk.3_Missense_Mutation_p.R265H|HCCS_uc004cuj.3_Missense_Mutation_p.R265H	p.R265H	NM_001171991	NP_005324	P53701	CCHL_HUMAN			6	974	+			265					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.794G>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608078	0.87258	0.0	1.49E-4	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.85629	-2.01;-2.01;-2.01	5.84	4.97	0.65823	.	0.047096	0.85682	D	0.000000	D	0.92828	0.7719	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93384	0.6746	10	0.87932	D	0	-5.5777	11.7602	0.51898	0.087:0.0:0.913:0.0	.	265	P53701	CCHL_HUMAN	H	265	ENSP00000326579:R265H;ENSP00000370140:R265H;ENSP00000370139:R265H	ENSP00000326579:R265H	R	+	2	0	HCCS	11049838	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.239000	0.95389	1.216000	0.43427	0.600000	0.82982	CGT		0.428	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			A	11139917	G	A	11139917	3	1	204	1	0	0	0	0	1	0	0	0	6990	1145	40	1	816	1	HCCS	23	11139917	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		11139917	144130643	63	14343											
MAGEB6	158809	broad.mit.edu	37	chrX	26212632	26212632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggcagacatgctgaaGtgtgtccgcagagagtacaa	13	8	13	7	1	0	4	0	2	0	2	1	5	1	4	1	1	2	4	1	1	4	2	rs141448892		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:26212632G>A	ENST00000379034.1	+	2	818	c.669G>A	c.(667-669)aaG>aaA	p.K223K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	223	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACATGCTGAAGTGTGTCCGCA	0.463																																						uc022buc.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(667-669)aaG>aaA		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							86	70	75					X																	26212632		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212632G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.669G>A	X.37:g.26212632G>A						MAGEB6_uc004dbr.3_Silent_p.K223K	p.K223K	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	669	+			223			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.669G>A	CCDS14217.1																																																																																				0.463	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212632	G	A	26212632	2	1	204	1	0	0	0	0	0	0	0	1	9179	1020	36	3		3	MAGEB6	23	26212632	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	15072715	26212632	129057928	64	14344											
CXorf22	170063	broad.mit.edu	37	chrX	35985763	35985763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcgatccgtaatcccaCgggaaagtttgtggtcaaag	10	10	11	10	3	1	0	1	0	0	0	4	2	3	1	3	2	0	2	3	2	3	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:35985763C>T	ENST00000297866.5	+	10	1694	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	543										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CGTAATCCCACGGGAAAGTTT	0.353																																						uc004ddj.3																			0		p.P542P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1627-1629)aCg>aTg		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							108	91	96					X																	35985763		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985763C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1628C>T	X.37:g.35985763C>T	ENSP00000297866:p.Thr543Met					CXorf22_uc010ngv.3_Non-coding_Transcript	p.T543M	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			9	1694	+			543					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1628C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447937	0.26074	.	.	ENSG00000165164	ENST00000297866	T	0.18174	2.23	5.35	1.64	0.23874	.	0.175720	0.48286	D	0.000183	T	0.34279	0.0892	M	0.70275	2.135	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.10382	-1.0632	10	0.62326	D	0.03	-37.034	8.4928	0.33110	0.0:0.6587:0.0:0.3413	.	543	Q6ZTR5	CX022_HUMAN	M	543	ENSP00000297866:T543M	ENSP00000297866:T543M	T	+	2	0	CXorf22	35895684	0.198000	0.23374	0.000000	0.03702	0.002000	0.02628	0.481000	0.22260	-0.092000	0.12417	-0.191000	0.12829	ACG		0.353	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35985763	C	T	35985763	3	4	204	1	0	0	0	0	1	0	0	0	4102	536	19	1	1666	1	CXorf22	23	35985763	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	9773131	35985763	119284797	65	14345											
ZNF157	7712	broad.mit.edu	37	chrX	47272290	47272290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcacacaggggagaaacCctatgaatgtagtgaatgtg	15	8	11	7	0	1	3	1	2	0	1	1	4	1	3	1	2	2	1	1	2	6	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:47272290C>T	ENST00000377073.3	+	4	904	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	273					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448																																						uc004dhr.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(817-819)cCc>cTc		Homo sapiens zinc finger protein 157 (ZNF157), mRNA.							50	46	47					X																	47272290		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272290C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.818C>T	X.37:g.47272290C>T	ENSP00000366273:p.Pro273Leu						p.P273L	NM_003446	NP_003437	P51786	ZN157_HUMAN			3	887	+			273					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.818C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264164	0.59431	.	.	ENSG00000147117	ENST00000377073	T	0.17054	2.3	2.79	2.79	0.32731	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38374	0.1038	M	0.74546	2.27	0.40966	D	0.984667	D	0.89917	1.0	D	0.79108	0.992	T	0.34502	-0.9826	9	0.62326	D	0.03	.	10.8389	0.46704	0.0:1.0:0.0:0.0	.	273	P51786	ZN157_HUMAN	L	273	ENSP00000366273:P273L	ENSP00000366273:P273L	P	+	2	0	ZNF157	47157234	0.547000	0.26465	0.986000	0.45419	0.995000	0.86356	1.535000	0.36061	1.677000	0.50941	0.600000	0.82982	CCC		0.448	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		T	47272290	C	T	47272290	3	4	204	1	0	0	0	0	1	0	0	0	17734	623	22	3	832	3	ZNF157	23	47272290	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	11286527	47272290	107998270	66	14346											
MORF4L2	9643	broad.mit.edu	37	chrX	102931771	102931771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggggggttctctgcagagCgaccaccccatcttcctggg	7	8	13	13	1	2	1	0	0	2	1	4	2	3	1	4	4	2	2	4	4	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:102931771C>T	ENST00000441076.2	-	4	489	c.185G>A	c.(184-186)cGc>cAc	p.R62H	MORF4L2_ENST00000422154.2_Missense_Mutation_p.R62H|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R62H|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R62H|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R62H|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R62H|MORF4L2_ENST00000492116.1_5'UTR	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	62					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTCTGCAGAGCGACCACCCCA	0.532																																						uc022cbw.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(184-186)cGc>cAc		Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.							64	54	58					X																	102931771		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931771C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.185G>A	X.37:g.102931771C>T	ENSP00000391969:p.Arg62His					MORF4L2_uc004ekw.3_Missense_Mutation_p.R62H|MORF4L2_uc004ela.3_Missense_Mutation_p.R62H|MORF4L2_uc004elb.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.3_Missense_Mutation_p.R62H|MORF4L2_uc004eky.3_Missense_Mutation_p.R62H|MORF4L2_uc010nos.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.3_Missense_Mutation_p.R62H|MORF4L2_uc011mry.2_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.2_Missense_Mutation_p.R62H|MORF4L2_uc004elc.3_Missense_Mutation_p.R62H|MORF4L2_uc004ele.3_Missense_Mutation_p.R62H|MORF4L2_uc004elf.3_Missense_Mutation_p.R62H|MORF4L2_uc011msa.2_Missense_Mutation_p.R62H|MORF4L2_uc011msb.2_Missense_Mutation_p.R62H|MORF4L2_uc011msc.2_Missense_Mutation_p.R62H|MORF4L2_uc011msd.2_Missense_Mutation_p.R62H|MORF4L2_uc004eld.3_Missense_Mutation_p.R62H	p.R62H	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			0	185	-			62					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.185G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998163	0.19043	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614;ENST00000422355	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	4.43	2.58	0.30949	.	0.447811	0.19288	N	0.117996	T	0.12050	0.0293	N	0.12182	0.205	0.23254	N	0.998031	P	0.36616	0.561	B	0.25759	0.063	T	0.15150	-1.0447	10	0.27785	T	0.31	-7.127	6.3443	0.21341	0.212:0.587:0.201:0.0	.	62	Q15014	MO4L2_HUMAN	H	62;62;62;62;44;62;62;62;62;62;62	ENSP00000353643:R62H;ENSP00000415476:R62H;ENSP00000394417:R62H;ENSP00000410532:R62H;ENSP00000391969:R62H;ENSP00000416120:R62H	ENSP00000353643:R62H	R	-	2	0	MORF4L2	102818427	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	1.848000	0.39309	0.556000	0.29098	-0.229000	0.12294	CGC		0.532	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		T	102931771	C	T	102931771	3	4	204	1	0	0	0	0	1	0	0	0	9707	768	27	1	685	1	MORF4L2	23	102931771	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	55659481	102931771	52338789	67	14347											
MID2	11043	broad.mit.edu	37	chrX	107084129	107084129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctttccagtgtcctacCtgcaggtatgttatctcgct	6	15	8	12	1	1	0	0	0	1	0	4	0	3	0	3	1	3	5	3	1	3	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107084129C>T	ENST00000262843.6	+	2	782	c.234C>T	c.(232-234)acC>acT	p.T78T	MID2_ENST00000443968.2_Silent_p.T78T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	78					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGTCCTACCTGCAGGTATG	0.512																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(232-234)acC>acT		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							146	122	131					X																	107084129		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084129C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.234C>T	X.37:g.107084129C>T						MID2_uc004enk.3_Silent_p.T78T	p.T78T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			1	807	+			78					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.234C>T	CCDS14532.2																																																																																				0.512	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		T	107084129	C	T	107084129	2	4	204	1	0	0	0	0	0	0	0	1	9578	668	24	3		3	MID2	23	107084129	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	4152358	107084129	48186431	68	14348											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						uc004eoc.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)ggcfs		Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.				32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.G591fs	NM_003604	NP_003595	O14654	IRS4_HUMAN			0	1805_1806	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		C	107977803	-	C	107977802	7	5	204	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-28-2509-01A-01D-1494-08	893673	107977802	47292758	69	14349											
ELF4	2000	broad.mit.edu	37	chrX	129201458	129201458	+	Frame_Shift_Del	DEL	G	G	-																															agggccgagcccgaccccacGggggccactcctaggtggat																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:129201458delG	ENST00000308167.5	-	9	1609	c.1230delC	c.(1228-1230)cccfs	p.P410fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.P410fs	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGACCCCACGGGGGCCACTC	0.592			T	ERG	AML																																	uc004evd.4				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1228-1230)cccfs		Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.							48	49	48					X																	129201458		2203	4299	6502	SO:0001589	frameshift_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201458delG	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1230delC	X.37:g.129201458delG	ENSP00000311280:p.Pro410fs					ELF4_uc004eve.4_Frame_Shift_Del_p.P410fs	p.P410fs	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	1615	-			410						Frame_Shift_Del	DEL	ENST00000308167.5	37	c.1230delC	CCDS14617.1																																																																																				0.592	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		-	129201458	G	-	129201458	7	5	204	1	0	1	0	1	0	0	0	0	5056	1103	39	0	765	0	ELF4	23	129201458	Frame_Shift_Del	DEL	G	TCGA-28-2509-01A-01D-1494-08	21223656	129201458	26069102	70	14350											
IGSF1	3547	broad.mit.edu	37	chrX	130416634	130416634	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccatccactggtcctcGacaccgtaggctcacattct	8	10	6	17	2	2	0	1	0	1	0	6	1	5	0	4	2	0	2	4	2	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:130416634G>A	ENST00000361420.3	-	7	1109	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R344*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R335*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.R335*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	344	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACTGGTCCTCGACACCGTAGG	0.488																																						uc004ewe.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1030-1032)Cga>Tga		Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.							137	114	122					X																	130416634		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416634G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1030C>T	X.37:g.130416634G>A	ENSP00000355010:p.Arg344*					IGSF1_uc004ewd.3_Nonsense_Mutation_p.R344*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R335*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	p.R344*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN			6	1313	-			344			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.1030C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739146	0.69304	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.78	2.94	0.34122	.	1.604380	0.03913	N	0.282271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	6.8428	0.23973	0.0:0.197:0.6073:0.1957	.	.	.	.	X	335;344;335;344	.	ENSP00000355010:R344X	R	-	1	2	IGSF1	130244315	0.071000	0.21146	0.004000	0.12327	0.131000	0.20780	0.805000	0.27112	0.516000	0.28340	0.594000	0.82650	CGA		0.488	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			A	130416634	G	A	130416634	4	1	204	1	0	0	0	0	0	1	0	0	7596	1066	37	2	3051	2	IGSF1	23	130416634	Nonsense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	1215176	130416634	24853926	71	14351											
DDX26B	203522	broad.mit.edu	37	chrX	134655171	134655171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgccccgcagctgcgCgcccgggacccggccagccg	3	4	13	21	6	0	0	0	0	0	0	1	1	1	1	7	2	4	2	7	2	0	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:134655171C>T	ENST00000370752.4	+	2	451	c.117C>T	c.(115-117)cgC>cgT	p.R39R	DDX26B-AS1_ENST00000430820.1_RNA|DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	39	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCTGCGCGCCCGGGACC	0.632																																						uc004eyw.4																			0				large_intestine(1)|lung(8)	9						c.(115-117)cgC>cgT		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.							18	17	17					X																	134655171		2195	4290	6485	SO:0001819	synonymous_variant	203522							g.chrX:134655171C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.117C>T	X.37:g.134655171C>T							p.R39R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			1	480	+	Acute lymphoblastic leukemia(192;6.56e-05)		39			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.117C>T	CCDS35401.1																																																																																				0.632	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		T	134655171	C	T	134655171	2	4	204	1	0	0	0	0	0	0	0	1	4353	755	27	1		1	DDX26B	23	134655171	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	4238537	134655171	20615389	72	14352											
FLG	2312	broad.mit.edu	37	chr1	152280065	152280065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcctccagtgctggTcccggtccgtccatgggcgg	2	12	13	14	3	1	0	0	0	1	0	6	0	6	0	5	4	1	1	5	4	0	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:152280065T>C	ENST00000368799.1	-	3	7332	c.7297A>G	c.(7297-7299)Acc>Gcc	p.T2433A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2433	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTGCTGGTCCCGGTCCGT	0.597									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7297-7299)Acc>Gcc		Homo sapiens filaggrin (FLG), mRNA.							269	247	254					1																	152280065		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280065T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7297A>G	1.37:g.152280065T>C	ENSP00000357789:p.Thr2433Ala						p.T2433A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	7333	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2433			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7297A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	8.399	0.841621	0.16963	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	4.17	-3.5	0.04710	.	.	.	.	.	T	0.00412	0.0013	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.48854	-0.8998	9	0.08837	T	0.75	.	0.8295	0.01127	0.3025:0.3256:0.2113:0.1606	.	2433	P20930	FILA_HUMAN	A	2433	ENSP00000357789:T2433A	ENSP00000357789:T2433A	T	-	1	0	FLG	150546689	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.568000	0.05909	-0.452000	0.07087	-1.256000	0.01477	ACC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152280065	T	C	152280065	3	2	205	1	0	0	0	0	1	0	0	0	5922	1667	58	4	4892	4	FLG	1	152280065	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08		152280065	96970556	1	14353											
HMCN1	83872	broad.mit.edu	37	chr1	186057366	186057366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgatgccactgggatcCcacctcccacgatagcatgg	9	8	10	14	1	0	1	0	1	0	0	2	3	2	2	4	2	2	1	4	2	1	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:186057366C>T	ENST00000271588.4	+	62	9764	c.9535C>T	c.(9535-9537)Cca>Tca	p.P3179S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3179S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3179	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTGGGATCCCACCTCCCAC	0.438																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9535-9537)Cca>Tca		Homo sapiens hemicentin 1 (HMCN1), mRNA.							97	85	89					1																	186057366		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057366C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9535C>T	1.37:g.186057366C>T	ENSP00000271588:p.Pro3179Ser					MIR548F1_uc021pgf.1_Intron	p.P3179S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			61	9764	+			3179			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9535C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220730	0.95139	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80393	-1.37;-1.37	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94161	0.7414	10	0.54805	T	0.06	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	3179	Q96RW7	HMCN1_HUMAN	S	3179	ENSP00000271588:P3179S;ENSP00000356462:P3179S	ENSP00000271588:P3179S	P	+	1	0	HMCN1	184323989	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.710000	0.84655	2.644000	0.89710	0.563000	0.77884	CCA		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186057366	C	T	186057366	3	4	205	1	0	0	0	0	1	0	0	0	7220	623	22	3	9781	3	HMCN1	1	186057366	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	33777301	186057366	63193255	2	14354											
LRPPRC	10128	broad.mit.edu	37	chr2	44203309	44203309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcatgccctgtcacaaggGcactgaatactgcctctgta	9	10	10	12	0	2	1	1	1	1	0	2	1	2	1	2	2	3	3	2	2	4	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:44203309G>A	ENST00000260665.7	-	6	767	c.710C>T	c.(709-711)gCc>gTc	p.A237V	LRPPRC_ENST00000409946.1_Missense_Mutation_p.A237V|LRPPRC_ENST00000409659.1_Missense_Mutation_p.A237V	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	237					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCACAAGGGCACTGAATAC	0.398																																						uc002rtr.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(709-711)gCc>gTc		Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.							84	81	82					2																	44203309		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44203309G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.710C>T	2.37:g.44203309G>A	ENSP00000260665:p.Ala237Val					LRPPRC_uc010yob.1_Missense_Mutation_p.A137V|LRPPRC_uc010faw.1_Missense_Mutation_p.A211V	p.A237V	NM_133259	NP_573566	P42704	LPPRC_HUMAN			5	768	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	237					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.710C>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837396	0.50951	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.67345	0.35;0.3;0.31;-0.26	5.29	5.29	0.74685	.	0.363251	0.31268	N	0.007958	T	0.58836	0.2150	L	0.27053	0.805	0.35950	D	0.833853	B;B;P	0.36683	0.433;0.143;0.565	B;B;B	0.42625	0.318;0.219;0.393	T	0.63010	-0.6732	10	0.21014	T	0.42	-10.141	15.5457	0.76097	0.0:0.1479:0.8521:0.0	.	137;211;237	F5H4J6;C9JCA9;P42704	.;.;LPPRC_HUMAN	V	137;237;237;237;211	ENSP00000260665:A237V;ENSP00000386234:A237V;ENSP00000386562:A237V;ENSP00000403637:A211V	ENSP00000260665:A237V	A	-	2	0	LRPPRC	44056813	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	6.528000	0.73807	2.452000	0.82932	0.650000	0.86243	GCC		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		A	44203309	G	A	44203309	3	1	205	1	0	0	0	0	1	0	0	0	8965	1203	42	3	3606	3	LRPPRC	2	44203309	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		44203309	198996064	3	14355											
TTN	7273	broad.mit.edu	37	chr2	179633437	179633437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgatgttgcttttccAgccacaaaggtgtagtcagc	8	13	11	9	0	1	1	1	1	0	0	2	1	2	1	2	1	3	5	2	1	2	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:179633437A>G	ENST00000591111.1	-	38	9350	c.9126T>C	c.(9124-9126)gcT>gcC	p.A3042A	TTN_ENST00000589042.1_Silent_p.A3042A|TTN_ENST00000342992.6_Silent_p.A3042A|TTN_ENST00000460472.2_Silent_p.A2996A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A2996A|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Silent_p.A3042A|TTN_ENST00000359218.5_Silent_p.A2996A			Q8WZ42	TITIN_HUMAN	titin	13374	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTTTTCCAGCCACAAAGG	0.388																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9124-9126)gcT>gcC		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							95	85	88					2																	179633437		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633437A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9126T>C	2.37:g.179633437A>G						TTN_uc021vsz.1_Silent_p.A2996A|TTN_uc021vta.1_Silent_p.A2996A|TTN_uc021vtb.1_Silent_p.A2996A|TTN_uc002unb.2_Silent_p.A3042A	p.A3042A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9351	-			3042			Ig-like 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.9126T>C																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179633437	A	G	179633437	2	3	205	1	0	0	0	0	0	0	0	1	16732	175	7	4		4	TTN	2	179633437	Silent	SNP	A	TCGA-28-2510-01A-01D-1696-08	135430128	179633437	63565936	4	14356											
LIN54	132660	broad.mit.edu	37	chr4	83905798	83905798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtggttactgtacactGtgattggttccgtggaaatg	8	15	13	5	1	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	4	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:83905798G>C	ENST00000340417.3	-	2	577	c.200C>G	c.(199-201)aCa>aGa	p.T67R	LIN54_ENST00000506560.1_Missense_Mutation_p.T67R|LIN54_ENST00000395283.2_Missense_Mutation_p.T67R|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.T67R|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.T67R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	67					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTGTACACTGTGATTGGTTC	0.428																																						uc003hnx.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(199-201)aCa>aGa		Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.							290	275	280					4																	83905798		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905798G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.200C>G	4.37:g.83905798G>C	ENSP00000341947:p.Thr67Arg					LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T67R|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	p.T67R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			1	578	-		Hepatocellular(203;0.114)	67					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.200C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306016	0.23736	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	4.52	0.55395	.	0.469539	0.23997	N	0.042516	T	0.43166	0.1235	N	0.19112	0.55	0.50467	D	0.999876	B;B	0.29716	0.255;0.072	B;B	0.25987	0.065;0.029	T	0.41466	-0.9507	9	0.59425	D	0.04	-9.1263	14.0787	0.64907	0.0728:0.0:0.9272:0.0	.	67;67	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	R	67	.	ENSP00000341947:T67R	T	-	2	0	LIN54	84124822	1.000000	0.71417	0.998000	0.56505	0.195000	0.23768	6.402000	0.73260	1.264000	0.44198	0.655000	0.94253	ACA		0.428	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		C	83905798	G	C	83905798	3	2	205	1	0	0	0	0	1	0	0	0	8809	1377	48	5	2097	5	LIN54	4	83905798	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		83905798	107248478	5	14357											
CLCN3	1182	broad.mit.edu	37	chr4	170610366	170610366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacatgggcagaattaatCataggtcaagcagaggtaag	18	7	11	5	0	2	2	2	0	0	2	2	2	2	2	0	3	2	3	0	3	7	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:170610366C>G	ENST00000513761.1	+	5	1150	c.591C>G	c.(589-591)atC>atG	p.I197M	CLCN3_ENST00000360642.3_Missense_Mutation_p.I197M|CLCN3_ENST00000347613.4_Missense_Mutation_p.I197M|CLCN3_ENST00000504131.2_Missense_Mutation_p.I180M	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	197					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CAGAATTAATCATAGGTCAAG	0.353																																						uc003ish.3																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(589-591)atC>atG		Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.							115	112	113					4																	170610366		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170610366C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.591C>G	4.37:g.170610366C>G	ENSP00000424603:p.Ile197Met					CLCN3_uc003isi.3_Missense_Mutation_p.I197M|CLCN3_uc011cka.2_Missense_Mutation_p.I197M|CLCN3_uc011cjz.2_Missense_Mutation_p.I180M|CLCN3_uc003isj.2_Missense_Mutation_p.I170M	p.I197M	NM_173872	NP_776297	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	4	1150	+		Prostate(90;0.00601)|Renal(120;0.0183)	197					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.591C>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	9.479	1.097551	0.20552	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89617	-2.52;-2.54;-2.49;-2.51;-2.37	5.36	4.5	0.54988	Chloride channel, core (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	N	0.13003	0.285	0.52099	D	0.999946	B;B;B;B;B	0.17852	0.014;0.014;0.014;0.014;0.024	B;B;B;B;B	0.18561	0.01;0.01;0.01;0.01;0.022	T	0.70952	-0.4732	9	.	.	.	-6.2814	12.4148	0.55488	0.4653:0.5347:0.0:0.0	.	197;180;170;197;197	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	M	197;197;197;180;170	ENSP00000424603:I197M;ENSP00000261514:I197M;ENSP00000353857:I197M;ENSP00000424540:I180M;ENSP00000425323:I170M	.	I	+	3	3	CLCN3	170846941	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	1.712000	0.37940	1.214000	0.43395	0.650000	0.86243	ATC		0.353	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			G	170610366	C	G	170610366	3	3	205	1	0	0	0	0	1	0	0	0	3464	816	29	5	605	5	CLCN3	4	170610366	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	86704568	170610366	20543910	6	14358											
LRRC16A	55604	broad.mit.edu	37	chr6	25606465	25606465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctggcagcacggcccGtcatcccgcagaaaccaaga	11	4	10	16	3	2	2	1	0	1	2	3	2	3	2	4	2	2	3	4	2	2	0	rs562410993		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr6:25606465G>A	ENST00000329474.6	+	35	4179	c.3811G>A	c.(3811-3813)Gtc>Atc	p.V1271I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1271					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACGGCCCGTCATCCCGCA	0.607																																						uc011djw.2																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3811-3813)Gtc>Atc		Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.							36	43	41					6																	25606465		1950	4146	6096	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25606465G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3811G>A	6.37:g.25606465G>A	ENSP00000331983:p.Val1271Ile					LRRC16A_uc010jpy.3_Missense_Mutation_p.V1265I	p.V1271I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			34	4179	+			1271					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3811G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015041	0.35511	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.14893	2.47	5.85	0.38	0.16222	.	0.534254	0.20328	N	0.094500	T	0.02230	0.0069	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.20887	0.012;0.049;0.039	B;B;B	0.17979	0.008;0.014;0.02	T	0.37619	-0.9698	10	0.39692	T	0.17	-3.0286	3.9524	0.09375	0.5183:0.0:0.1758:0.3059	.	1271;1265;1226	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	I	1271;1226	ENSP00000331983:V1271I	ENSP00000331983:V1271I	V	+	1	0	LRRC16A	25714444	0.002000	0.14202	0.943000	0.38184	0.560000	0.35617	1.393000	0.34497	0.033000	0.15463	-0.150000	0.13652	GTC		0.607	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		A	25606465	G	A	25606465	3	1	205	1	0	0	0	0	1	0	0	0	8971	1145	40	1	3949	1	LRRC16A	6	25606465	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		25606465	145508602	7	14359											
CHN2	1124	broad.mit.edu	37	chr7	29407575	29407575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagcaagaggcacctcGtcccaagagaatcatttgtc	12	9	9	11	1	1	2	1	0	0	2	4	3	2	2	2	1	2	3	2	1	4	2	rs528035980		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:29407575G>A	ENST00000222792.6	+	3	646	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CHN2_ENST00000546235.1_Missense_Mutation_p.R24H|CHN2_ENST00000539389.1_Missense_Mutation_p.R39H|CHN2_ENST00000495789.2_Missense_Mutation_p.R52H|CHN2_ENST00000539406.1_Missense_Mutation_p.R114H|CHN2_ENST00000435288.2_Missense_Mutation_p.R39H	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	39					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCACCTCGTCCCAAGAGA	0.413																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0		p.R39C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(115-117)cGt>cAt		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							114	111	112					7																	29407575		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29407575G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.116G>A	7.37:g.29407575G>A	ENSP00000222792:p.Arg39His					CHN2_uc011jzs.2_Missense_Mutation_p.R114H|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R52H|CHN2_uc010kvd.3_Missense_Mutation_p.R39H|CHN2_uc011jzu.2_Missense_Mutation_p.R24H	p.R39H	NM_004067	NP_004058	P52757	CHIO_HUMAN			2	553	+			39					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.116G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018232	0.54576	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.70516	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.49;-0.04	5.12	5.12	0.69794	.	0.122154	0.53938	N	0.000049	T	0.71584	0.3357	N	0.13043	0.29	0.80722	D	1	B;D;D;B;D	0.76494	0.106;0.998;0.999;0.243;0.998	B;D;D;B;D	0.80764	0.016;0.964;0.994;0.005;0.964	T	0.70684	-0.4804	10	0.26408	T	0.33	.	16.3346	0.83053	0.0:0.0:1.0:0.0	.	24;52;114;39;39	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	H	114;114;39;39;52;52;39;24	ENSP00000409843:R114H;ENSP00000444063:R114H;ENSP00000222792:R39H;ENSP00000400282:R39H;ENSP00000386968:R52H;ENSP00000438587:R52H;ENSP00000440526:R39H;ENSP00000442812:R24H	ENSP00000222792:R39H	R	+	2	0	CHN2	29374100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.880000	0.75578	2.388000	0.81334	0.585000	0.79938	CGT		0.413	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		A	29407575	G	A	29407575	3	1	205	1	0	0	0	0	1	0	0	0	3363	1145	40	1	126	1	CHN2	7	29407575	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		29407575	129731088	8	14360											
SAMD9	54809	broad.mit.edu	37	chr7	92731863	92731863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccgcctttttgacttcGgatacaatctttccttcact	8	16	4	13	2	2	1	1	1	1	0	4	2	3	2	3	1	2	0	3	1	3	7			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:92731863G>A	ENST00000379958.2	-	3	3817	c.3548C>T	c.(3547-3549)cCg>cTg	p.P1183L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1183						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.P1183Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTGACTTCGGATACAATCT	0.378																																						uc003umf.3																			1	Substitution - Missense(1)	p.P1183Q(2)|p.P1183P(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3547-3549)cCg>cTg		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							205	206	206					7																	92731863		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731863G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3548C>T	7.37:g.92731863G>A	ENSP00000369292:p.Pro1183Leu					SAMD9_uc003umg.3_Missense_Mutation_p.P1183L|SAMD9_uc022ahg.1_Missense_Mutation_p.P1183L	p.P1183L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	3818	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1183					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3548C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	2.017	-0.425598	0.04701	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21191	2.02;2.83	4.54	2.13	0.27403	.	0.766887	0.11180	N	0.591031	T	0.09468	0.0233	N	0.08118	0	0.22835	N	0.998677	B	0.18461	0.028	B	0.12156	0.007	T	0.38045	-0.9679	10	0.23891	T	0.37	-0.7023	5.5193	0.16923	0.3017:0.0:0.1583:0.54	.	1183	Q5K651	SAMD9_HUMAN	L	1183	ENSP00000369292:P1183L;ENSP00000414529:P1183L	ENSP00000369292:P1183L	P	-	2	0	SAMD9	92569799	.	.	0.871000	0.34182	0.004000	0.04260	.	.	0.272000	0.22027	-1.660000	0.00751	CCG		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92731863	G	A	92731863	3	1	205	1	0	0	0	0	1	0	0	0	13826	1116	39	2	1225	2	SAMD9	7	92731863	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	63324288	92731863	66406800	9	14361											
PTEN	5728	broad.mit.edu	37	chr10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactattcccagtcagaggcGctatgtgtattattatagct	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	3	1	1	7	7	rs121913294		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:89711900G>A	ENST00000371953.3	+	6	1875	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173H(23)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R173P(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R173H(RL952_ENDOMETRIUM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		80	Whole gene deletion(37)|Substitution - Missense(24)|Deletion - Frameshift(11)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)	central_nervous_system(32)|prostate(17)|skin(8)|endometrium(5)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|testis(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074465	PTEN	M	rs121913294	c.(517-519)cGc>cAc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							129	132	131					10																	89711900		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711900G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.518G>A	10.37:g.89711900G>A	ENSP00000361021:p.Arg173His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R173H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1550	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.518G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478054	0.96291	.	.	ENSG00000171862	ENST00000371953	D	0.98889	-5.21	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99162	0.9710	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.99533	1.0961	9	.	.	.	0.9169	19.9308	0.97118	0.0:0.0:1.0:0.0	.	173	P60484	PTEN_HUMAN	H	173	ENSP00000361021:R173H	.	R	+	2	0	PTEN	89701880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89711900	G	A	89711900	3	1	205	1	0	0	0	0	1	0	0	0	12738	1087	38	1	540	1	PTEN	10	89711900	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		89711900	45822847	10	14362											
POLL	27343	broad.mit.edu	37	chr10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcctggctgCggatgtcttccagacttcgg	5	11	15	10	2	2	1	1	0	1	1	4	3	3	3	2	5	1	1	2	5	0	3	rs146112511		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)																														uc001ktg.1																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1090-1092)cGc>cAc	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96	86	89		1091,815,1091	1.1	0.7	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	364/576,272/484,364/576	103342623	1,13005	2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103342623C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>A	10.37:g.103342623C>T	ENSP00000359181:p.Arg364His					DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001ktj.2_Missense_Mutation_p.R364H|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R272H|POLL_uc001kti.2_Missense_Mutation_p.R364H|POLL_uc001ktl.3_Missense_Mutation_p.R276H|POLL_uc001ktm.3_Missense_Mutation_p.R364H|POLL_uc010qqc.2_Missense_Mutation_p.R56H|POLL_uc010qqa.2_Missense_Mutation_p.R103H	p.R364H	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	5	1857	-		Colorectal(252;0.234)	364					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1091G>A	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		T	103342623	C	T	103342623	3	4	205	1	0	0	0	0	1	0	0	0	12205	768	27	1	648	1	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	13630723	103342623	32192124	11	14363											
C10orf96	374355	broad.mit.edu	37	chr10	118084588	118084588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcggaggagagtcgccGtttgatgcgagaaggtcggg	8	7	19	7	5	1	3	1	1	0	2	3	6	1	4	1	5	1	1	1	5	1	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:118084588G>A	ENST00000333254.3	+	2	316	c.65G>A	c.(64-66)cGt>cAt	p.R22H	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	22								p.R22H(1)									GAGAGTCGCCGTTTGATGCGA	0.557																																						uc001lck.3																			1	Substitution - Missense(1)	p.R22H(2)	large_intestine(1)	kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18						c.(64-66)cGt>cAt		Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.							129	135	133					10																	118084588		2203	4300	6503	SO:0001583	missense	374355							g.chr10:118084588G>A	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.65G>A	10.37:g.118084588G>A	ENSP00000329860:p.Arg22His						p.R22H	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	1	316	+		Lung NSC(174;0.204)|all_lung(145;0.248)	22						Missense_Mutation	SNP	ENST00000333254.3	37	c.65G>A	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292799	0.40594	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	4.51	0.55191	.	0.304896	0.28847	N	0.013958	T	0.46833	0.1413	M	0.72118	2.19	0.27722	N	0.94508	B	0.25169	0.119	B	0.23574	0.047	T	0.50474	-0.8824	9	0.72032	D	0.01	-9.5535	10.2069	0.43118	0.0918:0.0:0.9082:0.0	.	22	P0C7W6	CJ096_HUMAN	H	22	.	ENSP00000329860:R22H	R	+	2	0	C10orf96	118074578	0.914000	0.31030	0.043000	0.18650	0.079000	0.17450	3.570000	0.53834	1.271000	0.44313	0.655000	0.94253	CGT		0.557	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		A	118084588	G	A	118084588	3	1	205	1	0	0	0	0	1	0	0	0	1627	1145	40	1	67	1	C10orf96	10	118084588	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	14741965	118084588	17450159	12	14364											
LPXN	9404	broad.mit.edu	37	chr11	58318640	58318640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccccaagcattgagtcCagggaggccttgtgatcctg	9	8	12	12	0	0	3	0	2	0	1	2	4	2	4	5	2	1	1	5	2	1	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:58318640C>T	ENST00000395074.2	-	5	472	c.384G>A	c.(382-384)ctG>ctA	p.L128L	LPXN_ENST00000528954.1_Silent_p.L133L|LPXN_ENST00000528489.1_Silent_p.L108L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	128					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCATTGAGTCCAGGGAGGCCT	0.557																																						uc001nmw.3																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(382-384)ctG>ctA		Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.							103	83	90					11																	58318640		2201	4295	6496	SO:0001819	synonymous_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58318640C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.384G>A	11.37:g.58318640C>T						LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.L133L|LPXN_uc010rkk.2_Silent_p.L108L|LPXN_uc010rkl.2_Non-coding_Transcript	p.L128L	NM_004811	NP_004802	O60711	LPXN_HUMAN			4	529	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	128					B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	ENST00000395074.2	37	c.384G>A	CCDS7969.1																																																																																				0.557	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		T	58318640	C	T	58318640	2	4	205	1	0	0	0	0	0	0	0	1	8929	581	21	3		3	LPXN	11	58318640	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08		58318640	76687876	13	14365											
AHNAK	79026	broad.mit.edu	37	chr11	62296010	62296010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagctcaacatcaggcAcctccacacccacactggga	12	5	6	18	0	2	0	2	0	0	0	4	1	4	1	4	2	2	2	4	2	1	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:62296010A>G	ENST00000378024.4	-	5	6153	c.5879T>C	c.(5878-5880)gTg>gCg	p.V1960A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1960					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V1960A(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACATCAGGCACCTCCACACC	0.507																																						uc001ntl.3																			1	Substitution - Missense(1)	p.V1960A(2)	large_intestine(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5878-5880)gTg>gCg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							191	201	197					11																	62296010		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296010A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5879T>C	11.37:g.62296010A>G	ENSP00000367263:p.Val1960Ala					AHNAK_uc001ntk.1_Intron	p.V1960A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	6179	-		Melanoma(852;0.155)	1960					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5879T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.339541	0.00017	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00840	5.63	3.2	-5.97	0.02227	.	.	.	.	.	T	0.00496	0.0016	N	0.11789	0.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46721	-0.9171	9	0.02654	T	1	.	6.5769	0.22571	0.2874:0.3589:0.3537:0.0	.	1960	Q09666	AHNK_HUMAN	A	49;1960	ENSP00000367263:V1960A	ENSP00000244934:V49A	V	-	2	0	AHNAK	62052586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.507000	0.00448	-0.951000	0.03654	-1.436000	0.01078	GTG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62296010	A	G	62296010	3	3	205	1	0	0	0	0	1	0	0	0	414	159	6	4	11913	4	AHNAK	11	62296010	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08	3977370	62296010	72710506	14	14366											
C11orf65	160140	broad.mit.edu	37	chr11	108302505	108302505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatatttcactatctgacGtggttctccttgtcttctta	8	19	5	9	1	5	1	1	1	4	0	6	1	5	1	1	1	0	1	1	1	5	8			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:108302505G>A	ENST00000529391.1	-	2	151	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.R48C			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACTATCTGACGTGGTTCTCCT	0.299																																						uc001pkh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(142-144)Cgt>Tgt		Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.							177	181	179					11																	108302505		2201	4295	6496	SO:0001583	missense	160140							g.chr11:108302505G>A	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.142C>T	11.37:g.108302505G>A	ENSP00000436400:p.Arg48Cys					C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	p.R48C	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	212	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	48					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.142C>T	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981569	0.53827	.	.	ENSG00000166323	ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.34275	1.37;1.37;1.37	5.73	4.82	0.62117	.	0.231873	0.35970	N	0.002878	T	0.36276	0.0961	M	0.64404	1.975	0.44976	D	0.997993	B	0.18610	0.029	B	0.16722	0.016	T	0.24941	-1.0146	10	0.72032	D	0.01	-2.4624	10.6225	0.45489	0.088:0.0:0.912:0.0	.	48	Q8NCR3	CK065_HUMAN	C	48	ENSP00000436400:R48C;ENSP00000376799:R48C;ENSP00000434500:R48C	ENSP00000376799:R48C	R	-	1	0	C11orf65	107807715	0.622000	0.27085	0.981000	0.43875	0.382000	0.30200	3.196000	0.51020	1.442000	0.47568	0.650000	0.86243	CGT		0.299	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		A	108302505	G	A	108302505	3	1	205	1	0	0	0	0	1	0	0	0	1655	1145	40	1	827	1	C11orf65	11	108302505	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	46006495	108302505	26704011	15	14367											
OR8D1	283159	broad.mit.edu	37	chr11	124180280	124180280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcattataaagcagtgggCtacagatggcaacatagcga	14	8	11	8	2	0	1	0	0	0	1	1	2	0	1	0	2	4	4	0	2	6	4			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:124180280C>T	ENST00000357821.2	-	1	453	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(382-384)aGc>aAc		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							84	74	77					11																	124180280		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180280C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.383G>A	11.37:g.124180280C>T	ENSP00000350474:p.Ser128Asn						p.S128N	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	383	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	128					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.383G>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	0.350	-0.945224	0.02304	.	.	ENSG00000196341	ENST00000357821	T	0.00481	7.11	4.07	-4.71	0.03279	GPCR, rhodopsin-like superfamily (1);	0.637592	0.12880	U	0.431525	T	0.00109	0.0003	N	0.00566	-1.37	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35176	-0.9799	10	0.02654	T	1	.	2.6152	0.04902	0.1209:0.1369:0.2403:0.5018	.	128	Q8WZ84	OR8D1_HUMAN	N	128	ENSP00000350474:S128N	ENSP00000350474:S128N	S	-	2	0	OR8D1	123685490	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.052000	0.11865	-0.893000	0.03930	-0.363000	0.07495	AGC		0.498	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		T	124180280	C	T	124180280	3	4	205	1	0	0	0	0	1	0	0	0	11231	797	28	3	546	3	OR8D1	11	124180280	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	15877775	124180280	10826236	16	14368											
ZBTB39	9880	broad.mit.edu	37	chr12	57396726	57396726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgtgcagcggtacatgAgggcccccgagtgtgtcttt	7	10	14	10	2	1	2	0	1	1	1	1	3	1	2	2	2	3	2	2	2	1	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:57396726A>G	ENST00000300101.2	-	2	2061	c.1976T>C	c.(1975-1977)cTc>cCc	p.L659P		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCGGTACATGAGGGCCCCCGA	0.557																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1975-1977)cTc>cCc		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							142	109	120					12																	57396726		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396726A>G	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1976T>C	12.37:g.57396726A>G	ENSP00000300101:p.Leu659Pro					ZBTB39_uc021qzg.1_Missense_Mutation_p.L659P	p.L659P	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	2129	-			659					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1976T>C	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110784	0.56398	.	.	ENSG00000166860	ENST00000300101	T	0.15139	2.45	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06499	-1.0823	10	0.66056	D	0.02	-18.3326	13.4556	0.61197	1.0:0.0:0.0:0.0	.	659	O15060	ZBT39_HUMAN	P	659	ENSP00000300101:L659P	ENSP00000300101:L659P	L	-	2	0	ZBTB39	55682993	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.113000	0.71553	2.062000	0.61559	0.533000	0.62120	CTC		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		G	57396726	A	G	57396726	3	3	205	1	0	0	0	0	1	0	0	0	17537	304	11	4	166	4	ZBTB39	12	57396726	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08		57396726	76455169	17	14369											
CUX2	23316	broad.mit.edu	37	chr12	111748209	111748209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggatggtggtgggggCggagcggcggggcccggggc	2	3	25	11	6	0	0	0	0	0	0	0	2	0	2	2	11	1	0	2	11	0	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:111748209C>T	ENST00000261726.6	+	15	1777	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	541					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGGTGGGGGCGGAGCGGCGG	0.721																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1621-1623)ggC>ggT		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							11	14	13					12																	111748209		1761	3873	5634	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748209C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1623C>T	12.37:g.111748209C>T							p.G541G	NM_015267	NP_056082	O14529	CUX2_HUMAN			14	1777	+			541					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1623C>T	CCDS41837.1																																																																																				0.721	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		T	111748209	C	T	111748209	2	4	205	1	0	0	0	0	0	0	0	1	4065	755	27	1		1	CUX2	12	111748209	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08	54351483	111748209	22103686	18	14370											
RIMBP2	23504	broad.mit.edu	37	chr12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagaagtctggagaaaggCggtctcgcccgtaatcgtct	10	9	12	10	4	3	2	0	0	3	2	5	3	3	2	1	3	0	1	1	3	4	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:130898833C>T	ENST00000261655.4	-	14	2652	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	830					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2488-2490)cGc>cAc		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							60	68	65					12																	130898833		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898833C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2489G>A	12.37:g.130898833C>T	ENSP00000261655:p.Arg830His						p.R830H	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	13	2705	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	830					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2489G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174325	0.21704	.	.	ENSG00000060709	ENST00000261655	T	0.21191	2.02	4.49	1.61	0.23674	.	0.463790	0.20860	N	0.084374	T	0.09247	0.0228	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.26121	-1.0112	10	0.16420	T	0.52	-7.1662	8.0071	0.30332	0.0:0.5343:0.0:0.4657	.	830	O15034	RIMB2_HUMAN	H	830	ENSP00000261655:R830H	ENSP00000261655:R830H	R	-	2	0	RIMBP2	129464786	0.011000	0.17503	0.469000	0.27204	0.517000	0.34286	0.136000	0.15974	0.093000	0.17368	0.650000	0.86243	CGC		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130898833	C	T	130898833	3	4	205	1	0	0	0	0	1	0	0	0	13363	768	27	1	693	1	RIMBP2	12	130898833	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	19150624	130898833	2953062	19	14371											
NID2	22795	broad.mit.edu	37	chr14	52507433	52507433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgaaatttgctgagacGtaaggcacctggccttgaat	10	11	12	8	1	0	3	0	3	0	1	0	4	0	3	2	2	1	4	2	2	3	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:52507433G>A	ENST00000216286.5	-	8	1961	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y	NID2_ENST00000541773.1_Silent_p.Y601Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	654	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTGCTGAGACGTAAGGCACCT	0.498																																						uc001wzo.3																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1960-1962)taC>taT		Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.							325	274	291					14																	52507433		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52507433G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1962C>T	14.37:g.52507433G>A						NID2_uc010tqs.2_Silent_p.Y654Y|NID2_uc010tqt.1_Silent_p.Y654Y|NID2_uc001wzp.3_Silent_p.Y654Y	p.Y654Y	NM_007361	NP_031387	Q14112	NID2_HUMAN			7	2196	-	Breast(41;0.0639)|all_epithelial(31;0.123)		654			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.1962C>T	CCDS9706.1																																																																																				0.498	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			A	52507433	G	A	52507433	2	1	205	1	0	0	0	0	0	0	0	1	10415	1140	40	1		1	NID2	14	52507433	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		52507433	54842107	20	14372											
RBM25	58517	broad.mit.edu	37	chr14	73578303	73578303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacctgtagatagtgtcttTaacaaatttgaggatgaaga	14	13	9	5	0	1	4	0	2	1	2	1	5	1	5	1	1	2	1	1	1	6	6			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:73578303T>C	ENST00000261973.7	+	16	2370	c.2085T>C	c.(2083-2085)ttT>ttC	p.F695F	RBM25_ENST00000527432.1_Silent_p.F695F|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	695					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAGTGTCTTTAACAAATTTG	0.403																																						uc010ttu.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2083-2085)ttT>ttC		Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.							105	103	104					14																	73578303		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578303T>C	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2085T>C	14.37:g.73578303T>C						RBM25_uc001xno.3_Silent_p.F695F|RBM25_uc001xnp.3_Silent_p.F490F	p.F695F	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	16	2361	+			695					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2085T>C	CCDS32113.1																																																																																				0.403	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		C	73578303	T	C	73578303	2	2	205	1	0	0	0	0	0	0	0	1	13125	1751	61	4		4	RBM25	14	73578303	Silent	SNP	T	TCGA-28-2510-01A-01D-1696-08	21070870	73578303	33771237	21	14373											
ADAM10	102	broad.mit.edu	37	chr15	58904096	58904096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgtgaagccattacAtattccttcccttgcacagt	10	12	8	11	0	0	2	0	1	0	1	2	3	2	2	3	0	4	2	3	0	3	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:58904096A>C	ENST00000260408.3	-	12	2049	c.1606T>G	c.(1606-1608)Tgt>Ggt	p.C536G	ADAM10_ENST00000396140.2_Missense_Mutation_p.C235G|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	536	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AAGCCATTACATATTCCTTCC	0.448																																						uc002afd.1																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1606-1608)Tgt>Ggt		Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.							162	128	139					15																	58904096		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58904096A>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1606T>G	15.37:g.58904096A>C	ENSP00000260408:p.Cys536Gly					ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.C235G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C73G	p.C536G	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	11	2050	-			536			Disintegrin.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1606T>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403694	0.62288	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.64438	-0.1;-0.1	5.92	5.92	0.95590	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92825	0.6275	10	0.87932	D	0	-19.2504	16.3678	0.83341	1.0:0.0:0.0:0.0	.	235;355;536	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	G	536;355;235	ENSP00000260408:C536G;ENSP00000379444:C235G	ENSP00000260408:C536G	C	-	1	0	ADAM10	56691388	1.000000	0.71417	0.901000	0.35422	0.202000	0.24057	8.962000	0.93254	2.254000	0.74563	0.528000	0.53228	TGT		0.448	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		C	58904096	A	C	58904096	3	2	205	1	0	0	0	0	1	0	0	0	234	217	8	5	660	5	ADAM10	15	58904096	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08		58904096	43627296	22	14374											
SNX29	92017	broad.mit.edu	37	chr16	12220512	12220512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcgccaggccactgtGgccatgatgaacaggaagga	12	5	14	10	1	0	2	0	2	0	0	0	5	0	4	3	4	3	0	3	4	3	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:12220512G>A	ENST00000566228.1	+	12	1494	c.1425G>A	c.(1423-1425)gtG>gtA	p.V475V	SNX29_ENST00000306030.3_Silent_p.V90V|SNX29_ENST00000323433.4_Silent_p.V90V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	475						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGCCACTGTGGCCATGATGA	0.488																																						uc002dby.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(268-270)gtG>gtA		Homo sapiens sorting nexin 29 (SNX29), mRNA.							127	128	128					16																	12220512		2010	4182	6192	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12220512G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1425G>A	16.37:g.12220512G>A						SNX29_uc010uyx.1_Silent_p.V117V	p.V90V	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN			11	1487	+			90					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.270G>A	CCDS10553.2																																																																																				0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			A	12220512	G	A	12220512	2	1	205	1	0	0	0	0	0	0	0	1	14898	1335	47	3		3	SNX29	16	12220512	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		12220512	78134241	23	14375											
GTF3C1	2975	broad.mit.edu	37	chr16	27480738	27480738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgccgggggagtagtagcCcctcatcagcaggtagttgg	8	8	16	9	1	2	0	2	0	0	0	2	2	2	1	3	4	3	5	3	4	3	4			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:27480738C>T	ENST00000356183.4	-	32	4963	c.4948G>A	c.(4948-4950)Ggc>Agc	p.G1650S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1650S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1650					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGTAGTAGCCCCTCATCAGC	0.602																																						uc002dov.2																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4948-4950)Ggc>Agc		Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.							151	115	127					16																	27480738		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480738C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4948G>A	16.37:g.27480738C>T	ENSP00000348510:p.Gly1650Ser					GTF3C1_uc002dou.3_Missense_Mutation_p.G1650S	p.G1650S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			31	4988	-			1650					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4948G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395837	0.96009	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.37752	1.18	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.77616	2.38	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.97110	0.988;1.0	T	0.67921	-0.5545	10	0.66056	D	0.02	-13.7291	16.7036	0.85366	0.0:1.0:0.0:0.0	.	1650;1650	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1650;1646	ENSP00000348510:G1650S	ENSP00000348510:G1650S	G	-	1	0	GTF3C1	27388239	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.114000	0.77103	2.266000	0.75297	0.491000	0.48974	GGC		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27480738	C	T	27480738	3	4	205	1	0	0	0	0	1	0	0	0	6872	623	22	3	1405	3	GTF3C1	16	27480738	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	15260226	27480738	62874015	24	14376											
CTAGE1	64693	broad.mit.edu	37	chr18	19997766	19997766	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccataaggatgagaatcGggtctcataccttcagtcag	14	9	9	9	1	3	1	3	1	1	1	5	3	3	2	2	2	2	0	2	2	4	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:19997766G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.P3P			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.P3P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAGAATCGGGTCTCATAC	0.507																																						uc002ktv.1																			1	Substitution - coding silent(1)	p.P3P(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(7-9)ccC>ccT		Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							75	67	70					18																	19997766		2203	4300	6503	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997766G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997766G>A	Exception_encountered						p.P3P	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			0	113	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		3					B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.9C>T																																																																																					0.507	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19997766	G	A	19997766	1	1	205	0	1	0	0	0	0	0	0	0	3992	1103	39	2		2	CTAGE1	18	19997766	5'Flank	SNP	G	TCGA-28-2510-01A-01D-1696-08		19997766	58079482	25	14377											
SERPINB3	6317	broad.mit.edu	37	chr18	61325755	61325755	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctcctaccattcgttTgactttccacccaggagtta	7	14	7	13	1	1	1	0	1	1	0	4	2	2	2	4	2	1	3	4	2	2	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:61325755T>A	ENST00000283752.5	-	5	604	c.461A>T	c.(460-462)cAa>cTa	p.Q154L	SERPINB3_ENST00000332821.8_Missense_Mutation_p.Q154L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	154					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCATTCGTTTGACTTTCCAC	0.448																																						uc002lji.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(460-462)cAa>cTa		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.							106	95	98					18																	61325755		2203	4298	6501	SO:0001583	missense	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61325755T>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.461A>T	18.37:g.61325755T>A	ENSP00000283752:p.Gln154Leu					SERPINB3_uc002ljg.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqa.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqb.3_3'UTR	p.Q154L	NM_006919	NP_008850	P29508	SPB3_HUMAN			4	605	-			154					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.461A>T	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118833	0.56505	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.85702	-2.02;-2.02	2.97	2.97	0.34412	Serpin domain (3);	0.000000	0.37348	N	0.002130	D	0.91389	0.7283	M	0.85542	2.76	0.38851	D	0.956272	D;D;D	0.69078	0.997;0.997;0.997	D;P;P	0.66979	0.948;0.891;0.891	D	0.92843	0.6290	10	0.87932	D	0	.	11.271	0.49138	0.0:0.0:0.0:1.0	.	154;154;154	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	L	154	ENSP00000283752:Q154L;ENSP00000329498:Q154L	ENSP00000283752:Q154L	Q	-	2	0	SERPINB3	59476735	1.000000	0.71417	0.374000	0.26016	0.614000	0.37383	4.628000	0.61282	1.615000	0.50252	0.374000	0.22700	CAA		0.448	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		A	61325755	T	A	61325755	3	1	205	1	0	0	0	0	1	0	0	0	14102	1812	63	5	727	5	SERPINB3	18	61325755	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	41327989	61325755	16751493	26	14378											
OR7A5	26659	broad.mit.edu	37	chr19	14938368	14938368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacttcccctgagctgatGagattgcatgtatggaagaa	11	12	11	7	0	0	4	0	3	0	2	1	6	1	5	2	1	3	4	2	1	4	4			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:14938368G>A	ENST00000322301.3	-	2	773	c.686C>T	c.(685-687)tCa>tTa	p.S229L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.S229L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	229					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CTGAGCTGATGAGATTGCATG	0.448																																						uc002mzw.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(685-687)tCa>tTa		Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.							82	73	76					19																	14938368		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938368G>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.686C>T	19.37:g.14938368G>A	ENSP00000316955:p.Ser229Leu					OR7A5_uc010xoa.2_Missense_Mutation_p.S229L	p.S229L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			0	909	-			229					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.686C>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.550147	0.45383	.	.	ENSG00000188269	ENST00000322301	T	0.39229	1.09	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.51702	0.1690	M	0.83118	2.625	0.09310	N	1	B	0.30563	0.285	B	0.40477	0.33	T	0.53019	-0.8497	9	0.72032	D	0.01	.	7.8129	0.29241	0.0:0.0:0.7516:0.2483	.	229	Q15622	OR7A5_HUMAN	L	229	ENSP00000316955:S229L	ENSP00000316955:S229L	S	-	2	0	OR7A5	14799368	0.000000	0.05858	0.020000	0.16555	0.254000	0.26022	-0.609000	0.05635	1.803000	0.52742	0.121000	0.15741	TCA		0.448	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		A	14938368	G	A	14938368	3	1	205	1	0	0	0	0	1	0	0	0	11216	1294	45	3	277	3	OR7A5	19	14938368	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		14938368	44190615	27	14379											
HIPK4	147746	broad.mit.edu	37	chr19	40890043	40890043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggatccgaagtcaaTcacctgtcgggggtggggaa	8	7	17	9	3	2	0	2	0	0	0	4	3	3	2	2	6	0	1	2	6	3	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:40890043T>C	ENST00000291823.2	-	2	753	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCGAAGTCAATCACCTGTCGG	0.627																																						uc002onp.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(469-471)Att>Gtt		Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.							47	50	49					19																	40890043		2203	4299	6502	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40890043T>C	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.469A>G	19.37:g.40890043T>C	ENSP00000291823:p.Ile157Val						p.I157V	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	754	-			157			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.469A>G	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464236	0.43736	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.21543	2.0	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	T	0.34658	0.0905	L	0.60957	1.885	0.33177	D	0.549094	P	0.47409	0.895	P	0.54100	0.742	T	0.49380	-0.8946	10	0.45353	T	0.12	.	12.6085	0.56538	0.0:0.0:0.0:1.0	.	157	Q8NE63	HIPK4_HUMAN	V	157;122	ENSP00000291823:I157V	ENSP00000291823:I157V	I	-	1	0	HIPK4	45581883	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	2.939000	0.48995	2.234000	0.73211	0.460000	0.39030	ATT		0.627	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		C	40890043	T	C	40890043	3	2	205	1	0	0	0	0	1	0	0	0	7119	1435	50	4	1393	4	HIPK4	19	40890043	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	25951675	40890043	18238940	28	14380											
SPTBN4	57731	broad.mit.edu	37	chr19	41060491	41060491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggcgtggagaactacgagGaaagcatcgcgcagctgtcg	12	5	15	9	5	0	1	0	0	0	1	2	4	0	2	0	3	4	3	0	3	4	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:41060491G>A	ENST00000352632.3	+	24	5109	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	SPTBN4_ENST00000392023.1_Missense_Mutation_p.E351K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1675K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1675K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1675K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E418K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1675					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAACTACGAGGAAAGCATCGC	0.662																																						uc002ony.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5023-5025)Gaa>Aaa		Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.							20	19	19					19																	41060491		2196	4294	6490	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41060491G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5023G>A	19.37:g.41060491G>A	ENSP00000263373:p.Glu1675Lys					SPTBN4_uc002onx.3_Missense_Mutation_p.E1675K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1675K|SPTBN4_uc010egx.3_Missense_Mutation_p.E418K|SPTBN4_uc010egy.1_Missense_Mutation_p.E351K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E351K	p.E1675K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		23	5109	+			1675					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5023G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694885	0.68386	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000005	T	0.50718	0.1632	L	0.45352	1.415	0.47341	D	0.999392	D;D;B;D;D	0.76494	0.99;0.99;0.313;0.999;0.975	P;P;B;D;P	0.74348	0.843;0.87;0.124;0.983;0.876	T	0.42189	-0.9466	10	0.30078	T	0.28	.	16.2547	0.82505	0.0:0.0:1.0:0.0	.	418;418;351;1675;1675	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	K	1675;1675;1675;418;351	ENSP00000263373:E1675K;ENSP00000340345:E1675K;ENSP00000375879:E418K;ENSP00000375877:E351K	ENSP00000340345:E1675K	E	+	1	0	SPTBN4	45752331	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.632000	0.61311	2.121000	0.65114	0.313000	0.20887	GAA		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41060491	G	A	41060491	3	1	205	1	0	0	0	0	1	0	0	0	15120	1175	41	3	5113	3	SPTBN4	19	41060491	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	170448	41060491	18068492	29	14381											
KLK13	26085	broad.mit.edu	37	chr19	51563780	51563780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcactagtagggcagccTgccagggctgagagtggggg	7	7	18	9	0	0	1	0	1	0	1	0	2	0	1	2	4	3	4	2	4	2	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:51563780T>C	ENST00000595793.1	-	2	191	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	KLK13_ENST00000595547.1_Missense_Mutation_p.Q50R|KLK13_ENST00000596955.1_Missense_Mutation_p.Q50R|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	50	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TAGGGCAGCCTGCCAGGGCTG	0.602																																						uc002pvn.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(148-150)cAg>cGg		Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.							84	87	86					19																	51563780		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563780T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.149A>G	19.37:g.51563780T>C	ENSP00000470555:p.Gln50Arg					KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.Q50R|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.Q50R	p.Q50R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	1	192	-		all_neural(266;0.026)	50			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.149A>G	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.026139	0.75390	.	.	ENSG00000167759	ENST00000156476	D	0.90620	-2.7	3.88	3.88	0.44766	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44902	D	0.000402	D	0.96386	0.8821	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	D	0.96728	0.9537	10	0.87932	D	0	.	10.9303	0.47213	0.0:0.0:0.0:1.0	.	50;50;50	Q86VI7;B5BUM9;Q9UKR3	.;.;KLK13_HUMAN	R	50	ENSP00000156476:Q50R	ENSP00000156476:Q50R	Q	-	2	0	KLK13	56255592	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.797000	0.69087	1.756000	0.51951	0.496000	0.49642	CAG		0.602	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		C	51563780	T	C	51563780	3	2	205	1	0	0	0	0	1	0	0	0	8401	1580	55	4	700	4	KLK13	19	51563780	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	10503289	51563780	7565203	30	14382											
NLRP4	147945	broad.mit.edu	37	chr19	56372800	56372800	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctgctctgtgctcacCaccagcgggcacctcagaga	9	7	9	16	1	4	1	2	0	2	1	4	2	4	1	3	1	3	3	3	1	0	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:56372800C>A	ENST00000301295.6	+	4	2327	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	NLRP4_ENST00000587891.1_Silent_p.T560T|NLRP4_ENST00000346986.5_Silent_p.T635T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	635					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTGCTCACCACCAGCGGGC	0.592																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1903-1905)acC>acA		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							115	92	100					19																	56372800		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56372800C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1905C>A	19.37:g.56372800C>A						NLRP4_uc002qmf.3_Silent_p.T560T|NLRP4_uc010etf.3_Silent_p.T466T	p.T635T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2327	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	635					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1905C>A	CCDS12936.1																																																																																				0.592	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56372800	C	A	56372800	2	1	205	1	0	0	0	0	0	0	0	1	10479	581	21	5		5	NLRP4	19	56372800	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08	4809020	56372800	2756183	31	14383											
BEND2	139105	broad.mit.edu	37	chrX	18195711	18195711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaatgcagccattttgttCgggtcgagggattggctgtc	6	13	13	9	2	1	0	1	0	0	0	4	2	1	1	1	3	2	3	1	3	1	4	rs150572716		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:18195711C>T	ENST00000380033.4	-	10	1740	c.1608G>A	c.(1606-1608)ccG>ccA	p.P536P	BEND2_ENST00000380030.3_Silent_p.P445P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	536	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.P536P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATTTTGTTCGGGTCGAGGG	0.388																																						uc004cyj.4																			1	Substitution - coding silent(1)	p.P536Q(2)|p.P536P(2)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1606-1608)ccG>ccA		Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.		T	,	0,3835		0,0,0,1632,571	244	230	235		1335,1608	1.7	0.6	X	dbSNP_134	235	7,6721		0,6,1,2422,1871	no	coding-synonymous,coding-synonymous	BEND2	NM_001184767.1,NM_153346.4	,	0,6,1,4054,2442	TT,TC,T,CC,C		0.104,0.0,0.0663	,	445/646,536/800	18195711	7,10556	2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18195711C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1608G>A	X.37:g.18195711C>T						BEND2_uc010nfb.2_Silent_p.P445P	p.P536P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			9	1762	-			536			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.1608G>A	CCDS14184.1																																																																																				0.388	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		T	18195711	C	T	18195711	2	4	205	1	0	0	0	0	0	0	0	1	1398	871	31	2		2	BEND2	23	18195711	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08		18195711	137074849	32	14384											
YY2	404281	broad.mit.edu	37	chrX	21875351	21875351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggtccaaaggagaacCtcccaaaacagtcccttgct	15	6	7	13	0	0	1	0	0	0	1	3	2	3	1	4	2	3	1	4	2	6	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:21875351C>T	ENST00000429584.2	+	1	1247	c.749C>T	c.(748-750)cCt>cTt	p.P250L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	250	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AAAGGAGAACCTCCCAAAACA	0.502																																						uc011mjp.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(748-750)cCt>cTt		Homo sapiens YY2 transcription factor (YY2), mRNA.							111	121	117					X																	21875351		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875351C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.749C>T	X.37:g.21875351C>T	ENSP00000389381:p.Pro250Leu					MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	p.P250L	NM_206923	NP_996806	O15391	TYY2_HUMAN			0	1247	+			250			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.749C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.689035	0.14973	.	.	ENSG00000230797	ENST00000429584	T	0.11385	2.78	4.67	-9.35	0.00633	.	0.537282	0.19381	N	0.115654	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	10	0.41790	T	0.15	.	3.0349	0.06118	0.0864:0.2873:0.2685:0.3578	.	250	O15391	TYY2_HUMAN	L	250	ENSP00000389381:P250L	ENSP00000389381:P250L	P	+	2	0	YY2	21785272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-2.961000	0.00290	-2.103000	0.00360	CCT		0.502	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		T	21875351	C	T	21875351	3	4	205	1	0	0	0	0	1	0	0	0	17506	681	24	3	751	3	YY2	23	21875351	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	3679640	21875351	133395209	33	14385											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704095	52704095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaatccctccggtctGgtttacctttgcttctcaaa	8	14	7	12	1	2	2	1	1	2	1	5	2	4	2	3	2	2	2	3	2	4	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:52704095G>T	ENST00000371591.1	+	3	1137	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G336C|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.G336C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	336					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCCGGTCTGGTTTACCTTT	0.468																																						uc001cto.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(1006-1008)Ggt>Tgt		Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.							98	93	95					1																	52704095		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704095G>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1006G>T	1.37:g.52704095G>T	ENSP00000360647:p.Gly336Cys					ZFYVE9_uc001ctn.3_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.3_Missense_Mutation_p.G336C	p.G336C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			3	1178	+			336					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1006G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820482	0.32145	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.75	4.75	0.60458	.	0.642662	0.13638	N	0.373178	T	0.45054	0.1323	N	0.19112	0.55	0.26696	N	0.971259	P;P;D	0.58268	0.911;0.856;0.982	P;B;P	0.57620	0.518;0.319;0.824	T	0.19289	-1.0310	10	0.23302	T	0.38	.	10.0021	0.41935	0.101:0.0:0.899:0.0	.	336;336;336	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	C	336	ENSP00000349737:G336C;ENSP00000355358:G336C;ENSP00000287727:G336C;ENSP00000360647:G336C	ENSP00000287727:G336C	G	+	1	0	ZFYVE9	52476683	0.979000	0.34478	0.973000	0.42090	0.991000	0.79684	1.007000	0.29860	2.471000	0.83476	0.563000	0.77884	GGT		0.468	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		T	52704095	G	T	52704095	3	4	206	1	0	0	0	0	1	0	0	0	17668	1348	47	5	1012	5	ZFYVE9	1	52704095	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		52704095	196546526	1	14386											
FLG	2312	broad.mit.edu	37	chr1	152275656	152275656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcgcggtgagaggatccGgggtgtctggagccatctct	6	10	16	9	3	2	1	0	1	2	1	5	4	3	3	2	5	1	1	2	5	1	1	rs147335121		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152275656G>A	ENST00000368799.1	-	3	11741	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis																													uc001ezu.1																			0		p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11704-11706)ccC>ccT		Homo sapiens filaggrin (FLG), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	89	91	91		11706	-3.4	0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		3902/4062	152275656	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275656G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11706C>T	1.37:g.152275656G>A							p.P3902P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11742	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11706C>T	CCDS30860.1																																																																																				0.517	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152275656	G	A	152275656	2	1	206	1	0	0	0	0	0	0	0	1	5922	1103	39	2		2	FLG	1	152275656	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	99571561	152275656	96974965	2	14387											
FLG2	388698	broad.mit.edu	37	chr1	152329436	152329436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccacatgcatgacttcGcctcccactgtctcctgaac	10	10	5	16	1	1	2	0	2	1	0	4	2	2	2	4	0	3	1	4	0	2	2	rs200529004		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152329436G>A	ENST00000388718.5	-	3	898	c.826C>T	c.(826-828)Cga>Tga	p.R276*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	276	Ser-rich.		R -> Q (in dbSNP:rs2282303).		establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCATGACTTCGCCTCCCACTG	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		23159	0		0	False		,,,				2504	0					uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(826-828)Cga>Tga		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							167	150	156					1																	152329436		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152329436G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.826C>T	1.37:g.152329436G>A	ENSP00000373370:p.Arg276*					AK056431_uc001ezv.3_Intron	p.R276*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	899	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		276		R -> Q (in dbSNP:rs2282303).	Ser-rich.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.826C>T	CCDS30861.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.77	2.931360	0.52866	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.9	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-6.2395	10.1627	0.42862	0.0:0.2859:0.5801:0.134	.	.	.	.	X	276	.	ENSP00000373370:R276X	R	-	1	2	FLG2	150596060	0.021000	0.18746	0.350000	0.25708	0.017000	0.09413	0.550000	0.23345	1.477000	0.48234	0.650000	0.86243	CGA		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152329436	G	A	152329436	4	1	206	1	0	0	0	0	0	1	0	0	5923	1095	38	1	6353	1	FLG2	1	152329436	Nonsense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	53780	152329436	96921185	3	14388											
PFDN2	5202	broad.mit.edu	37	chr1	161072146	161072146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgttcctgccgaaggCggttgaagccagcaatcacc	8	8	11	14	3	1	1	1	1	0	0	3	2	2	1	4	2	3	4	4	2	3	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:161072146C>T	ENST00000368010.3	-	2	179	c.95G>A	c.(94-96)cGc>cAc	p.R32H	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	32				GFNRLR -> SFNAF (in Ref. 3; AAF36151). {ECO:0000305}.	'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGAAGGCGGTTGAAGCC	0.527																																						uc001fxu.3																			0				lung(1)|skin(1)	2						c.(94-96)cGc>cAc		Homo sapiens prefoldin subunit 2 (PFDN2), mRNA.							80	71	74					1																	161072146		2203	4300	6503	SO:0001583	missense	5202				'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding	g.chr1:161072146C>T	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"prefoldin 2"			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.95G>A	1.37:g.161072146C>T	ENSP00000356989:p.Arg32His						p.R32H	NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	145	-	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		32	GFNRLR -> SFNAF (in Ref. 3; AAF36151).				Q9P0P7|Q9UN05	Missense_Mutation	SNP	ENST00000368010.3	37	c.95G>A	CCDS1217.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557379	0.65425	.	.	ENSG00000143256	ENST00000368010	T	0.47869	0.83	4.85	4.85	0.62838	Prefoldin beta-like (1);Prefoldin (1);	0.048045	0.85682	D	0.000000	T	0.28830	0.0715	L	0.51914	1.62	0.80722	D	1	B	0.33477	0.413	B	0.26310	0.068	T	0.25047	-1.0143	10	0.51188	T	0.08	-8.2362	15.5138	0.75806	0.0:1.0:0.0:0.0	.	32	Q9UHV9	PFD2_HUMAN	H	32	ENSP00000356989:R32H	ENSP00000356989:R32H	R	-	2	0	PFDN2	159338770	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.079000	0.71291	2.526000	0.85167	0.462000	0.41574	CGC		0.527	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077100.1	NM_012394		T	161072146	C	T	161072146	3	4	206	1	0	0	0	0	1	0	0	0	11756	768	27	1	381	1	PFDN2	1	161072146	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	8742710	161072146	88178475	4	14389											
HMCN1	83872	broad.mit.edu	37	chr1	186114957	186114957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggtgaaaagactcGgaagcggctgtgcgaccatc	11	6	16	8	3	0	2	0	1	0	1	2	6	0	5	1	5	2	1	1	5	3	0			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:186114957G>A	ENST00000271588.4	+	93	14739	c.14510G>A	c.(14509-14511)cGg>cAg	p.R4837Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4837Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4837	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACTCGGAAGCGGCTG	0.552																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14509-14511)cGg>cAg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							77	72	74					1																	186114957		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114957G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14510G>A	1.37:g.186114957G>A	ENSP00000271588:p.Arg4837Gln					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	p.R4837Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			92	14739	+			4837			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14510G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765413	0.90020	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.59	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.87038	2.855	0.58432	D	0.999999	P	0.46621	0.881	B	0.34180	0.177	D	0.84522	0.0628	10	0.87932	D	0	.	14.4262	0.67218	0.0707:0.0:0.9293:0.0	.	4837	Q96RW7	HMCN1_HUMAN	Q	4837	ENSP00000271588:R4837Q;ENSP00000356462:R4837Q	ENSP00000271588:R4837Q	R	+	2	0	HMCN1	184381580	1.000000	0.71417	0.511000	0.27724	0.661000	0.39034	9.402000	0.97298	1.367000	0.46095	0.655000	0.94253	CGG		0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186114957	G	A	186114957	3	1	206	1	0	0	0	0	1	0	0	0	7220	1116	39	2	14880	2	HMCN1	1	186114957	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	25042811	186114957	63135664	5	14390											
CACNA1S	779	broad.mit.edu	37	chr1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagacatgaagtactggcGcaggcccagcccgtacatct	11	7	11	12	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	4	3	rs9333651|rs138364213		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:201047161G>A	ENST00000362061.3	-	11	1691	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	489					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1465-1467)Cgc>Tgc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	144	125	131		1465	4.8	1	1	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense	CACNA1S	NM_000069.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	489/1874	201047161	3,13003	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047161G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1465C>T	1.37:g.201047161G>A	ENSP00000355192:p.Arg489Cys						p.R489C	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			10	1692	-			489					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1465C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677340	0.88445	2.27E-4	2.33E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97791	-4.54;-4.54	4.78	4.78	0.61160	Ion transport (1);	0.220694	0.47093	D	0.000247	D	0.98369	0.9458	M	0.76938	2.355	0.51233	D	0.999917	D	0.65815	0.995	P	0.59761	0.863	D	0.99612	1.0981	10	0.87932	D	0	.	18.141	0.89639	0.0:0.0:1.0:0.0	.	489	Q13698	CAC1S_HUMAN	C	489	ENSP00000355192:R489C;ENSP00000356307:R489C	ENSP00000355192:R489C	R	-	1	0	CACNA1S	199313784	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.331000	0.65905	2.351000	0.79841	0.643000	0.83706	CGC		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201047161	G	A	201047161	3	1	206	1	0	0	0	0	1	0	0	0	2547	1087	38	1	4292	1	CACNA1S	1	201047161	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	14932204	201047161	48203460	6	14391											
NRXN1	9378	broad.mit.edu	37	chr2	50765581	50765581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccggatatctttgctttgGccatcgatgaacaaatccct	9	13	8	11	2	1	1	0	1	1	0	3	3	2	2	3	2	3	1	3	2	3	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:50765581G>A	ENST00000406316.2	-	10	3429	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	NRXN1_ENST00000406859.3_Silent_p.G651G|NRXN1_ENST00000402717.3_Silent_p.G643G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.G643G|NRXN1_ENST00000404971.1_Silent_p.G691G|NRXN1_ENST00000401669.2_Silent_p.G651G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	651	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGCTTTGGCCATCGATGA	0.502																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1951-1953)ggC>ggT		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							220	233	229					2																	50765581		2198	4300	6498	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765581G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1953C>T	2.37:g.50765581G>A						NRXN1_uc002rxb.4_Silent_p.G323G|NRXN1_uc021vhg.1_Silent_p.G691G|NRXN1_uc021vhi.1_Silent_p.G687G|NRXN1_uc021vhj.1_Silent_p.G647G|NRXN1_uc002rxc.1_Non-coding_Transcript	p.G651G	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2874	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	651			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1953C>T	CCDS54360.1																																																																																				0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50765581	G	A	50765581	2	1	206	1	0	0	0	0	0	0	0	1	10665	1190	42	3		3	NRXN1	2	50765581	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08		50765581	192433792	7	14392											
PSD4	23550	broad.mit.edu	37	chr2	113940279	113940279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgggtccatcaggaCgggctggagccttgccagga	7	6	18	10	1	1	0	1	0	0	0	2	4	2	4	3	6	3	2	3	6	0	1	rs147089589		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000441564.3_Silent_p.D82D|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(244-246)gaC>gaT		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.		T		1,4405	2.1+/-5.4	0,1,2202	51	52	52		246	-1.1	0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940279C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T						PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	p.D82D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			1	429	+			82					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.246C>T	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113940279	C	T	113940279	2	4	206	1	0	0	0	0	0	0	0	1	12649	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	63174698	113940279	129259094	8	14393											
SLC4A10	57282	broad.mit.edu	37	chr2	162815003	162815003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgttcttttacagtttattCccatgccagtgctatatgga	8	18	7	8	0	1	0	0	0	1	0	2	1	2	1	2	1	3	3	2	1	4	9			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:162815003C>T	ENST00000446997.1	+	21	2893	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A10_ENST00000415876.2_Missense_Mutation_p.P904S|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P904S|SLC4A10_ENST00000375514.5_Missense_Mutation_p.P915S|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P934S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	934					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ACAGTTTATTCCCATGCCAGT	0.343																																						uc002ubx.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2800-2802)Ccc>Tcc		Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.							161	141	147					2																	162815003		1836	4087	5923	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162815003C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2800C>T	2.37:g.162815003C>T	ENSP00000393066:p.Pro934Ser					SLC4A10_uc010zcs.2_Missense_Mutation_p.P915S|SLC4A10_uc002uby.4_Missense_Mutation_p.P904S	p.P934S	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN			20	2984	+			934					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2800C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053450	0.93793	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.84	5.84	0.93424	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	H	0.97265	3.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.97709	1.0189	10	0.87932	D	0	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	915;904;934	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	S	915;904;904;903;934;934;933	ENSP00000364664:P915S;ENSP00000395797:P904S;ENSP00000272716:P904S;ENSP00000393066:P934S;ENSP00000404486:P934S	ENSP00000272716:P904S	P	+	1	0	SLC4A10	162523249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.055000	0.71103	2.779000	0.95612	0.655000	0.94253	CCC		0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		T	162815003	C	T	162815003	3	4	206	1	0	0	0	0	1	0	0	0	14651	855	30	3	2967	3	SLC4A10	2	162815003	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	48874724	162815003	80384370	9	14394											
TTN	7273	broad.mit.edu	37	chr2	179469893	179469893	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttttcaattacagttTcatttttggaccattcaatc	9	19	6	7	0	3	0	3	0	0	0	4	1	3	1	1	2	1	2	1	2	3	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:179469893T>G	ENST00000591111.1	-	230	49312	c.49088A>C	c.(49087-49089)gAa>gCa	p.E16363A	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15436A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9064A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8939A|TTN_ENST00000342175.6_Missense_Mutation_p.E9131A|TTN_ENST00000589042.1_Missense_Mutation_p.E18004A			Q8WZ42	TITIN_HUMAN	titin	16363	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTACAGTTTCATTTTTGGA	0.468																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46306-46308)gAa>gCa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							90	83	85					2																	179469893		1847	4091	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469893T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49088A>C	2.37:g.179469893T>G	ENSP00000465570:p.Glu16363Ala					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9131A|TTN_uc021vta.1_Missense_Mutation_p.E9064A|TTN_uc021vtb.1_Missense_Mutation_p.E8939A	p.E15436A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		228	46532	-			16363			Fibronectin type-III 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46307A>C		.	.	.	.	.	.	.	.	.	.	T	14.01	2.409054	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32436	0.0829	N	0.17278	0.47	0.53688	D	0.999971	P;P;P;P	0.40578	0.722;0.722;0.722;0.722	B;B;B;B	0.39738	0.308;0.308;0.308;0.308	T	0.26503	-1.0101	9	0.87932	D	0	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	8939;9064;9131;16363	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15436;8939;9131;9064;8939	ENSP00000343764:E15436A;ENSP00000434586:E8939A;ENSP00000340554:E9131A;ENSP00000352154:E9064A	ENSP00000340554:E9131A	E	-	2	0	TTN	179178138	1.000000	0.71417	0.960000	0.40013	0.954000	0.61252	6.197000	0.72100	2.190000	0.69967	0.460000	0.39030	GAA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179469893	T	G	179469893	3	3	206	1	0	0	0	0	1	0	0	0	16732	1783	62	5	54014	5	TTN	2	179469893	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	16654890	179469893	63729480	10	14395											
ZNF804A	91752	broad.mit.edu	37	chr2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagattctatcgaaaaCgtagacaacattcacattct	17	10	5	9	2	3	3	1	0	2	3	4	4	3	3	0	0	2	1	0	0	6	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:185802437C>T	ENST00000302277.6	+	4	2908	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772							metal ion binding (GO:0046872)	p.R772C(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATCGAAAACGTAGACAACA	0.343																																						uc002uph.3																			1	Substitution - Missense(1)	p.R772C(2)|p.R772R(1)	lung(1)	NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2314-2316)Cgt>Tgt		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							54	56	55					2																	185802437		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802437C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2314C>T	2.37:g.185802437C>T	ENSP00000303252:p.Arg772Cys						p.R772C	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			3	2908	+			772					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2314C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401501	0.62288	.	.	ENSG00000170396	ENST00000302277	T	0.17054	2.3	5.96	5.01	0.66863	.	0.000000	0.56097	D	0.000039	T	0.38374	0.1038	L	0.55481	1.735	0.48830	D	0.999714	D	0.89917	1.0	D	0.75484	0.986	T	0.06058	-1.0848	10	0.87932	D	0	-11.9814	17.0512	0.86519	0.1353:0.8647:0.0:0.0	.	772	Q7Z570	Z804A_HUMAN	C	772	ENSP00000303252:R772C	ENSP00000303252:R772C	R	+	1	0	ZNF804A	185510682	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.828000	0.48120	2.826000	0.97356	0.655000	0.94253	CGT		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		T	185802437	C	T	185802437	3	4	206	1	0	0	0	0	1	0	0	0	18167	536	19	1	2328	1	ZNF804A	2	185802437	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	6332544	185802437	57396936	11	14396											
NBEAL1	65065	broad.mit.edu	37	chr2	204000539	204000539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcataagcacagtagagctgTtttaatgaaagacaatgata	17	11	8	5	0	1	4	1	2	0	2	1	4	1	4	0	0	2	4	0	0	6	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:204000539T>C	ENST00000449802.1	+	27	4199	c.3866T>C	c.(3865-3867)gTt>gCt	p.V1289A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1289										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGAGCTGTTTTAATGAAA	0.343																																						uc002uzt.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3865-3867)gTt>gCt		Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.							43	39	40					2																	204000539		1825	4085	5910	SO:0001583	missense	65065						binding	g.chr2:204000539T>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.3866T>C	2.37:g.204000539T>C	ENSP00000399903:p.Val1289Ala					NBEAL1_uc021vvj.1_5'UTR	p.V1289A	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			26	4199	+			1289					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.3866T>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	0.726	-0.781761	0.02929	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.52983	0.64	5.45	1.53	0.23141	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	9	0.16896	T	0.51	.	3.7393	0.08523	0.3449:0.1939:0.0:0.4612	.	1289	Q6ZS30	NBEL1_HUMAN	A	1289	ENSP00000399903:V1289A	ENSP00000344985:V1289A	V	+	2	0	NBEAL1	203708784	0.011000	0.17503	0.000000	0.03702	0.022000	0.10575	1.346000	0.33964	0.385000	0.24970	-0.290000	0.09829	GTT		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			C	204000539	T	C	204000539	3	2	206	1	0	0	0	0	1	0	0	0	10188	1725	60	4	3968	4	NBEAL1	2	204000539	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	18198102	204000539	39198834	12	14397											
CADM2	253559	broad.mit.edu	37	chr3	85932587	85932587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaggcatatctcaccGttctgggtaagtgcaaggga	10	10	11	10	1	2	0	1	0	2	0	4	1	3	1	2	3	1	4	2	3	4	4	rs138383256		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:85932587G>A	ENST00000407528.2	+	3	420	c.358G>A	c.(358-360)Gtt>Att	p.V120I	CADM2_ENST00000405615.2_Missense_Mutation_p.V122I|CADM2_ENST00000383699.3_Missense_Mutation_p.V129I	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	120					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATCTCACCGTTCTGGGTAA	0.358													G|||	1	0.000199681	0	0.0014	5008	,	,		16190	0		0	False		,,,				2504	0					uc003dql.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(364-366)Gtt>Att		Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	80	68	72		358,385,364	4.7	1	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	120/436,129/405,122/438	85932587	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85932587G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.358G>A	3.37:g.85932587G>A	ENSP00000384575:p.Val120Ile					CADM2_uc003dqj.3_Missense_Mutation_p.V120I|CADM2_uc003dqk.3_Missense_Mutation_p.V129I|CADM2_uc003dqm.2_Missense_Mutation_p.V12I|CADM2_uc021xay.1_Missense_Mutation_p.V12I|CADM2_uc021xaz.1_Missense_Mutation_p.V12I|CADM2_uc021xba.1_Missense_Mutation_p.V12I	p.V122I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	2	364	+		Lung NSC(201;0.0148)	120					G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.364G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203461	0.58234	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.58652	0.32;0.32;0.32	5.54	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.107986	0.64402	D	0.000007	T	0.81394	0.4813	M	0.92691	3.335	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.79108	0.987;0.987;0.992	D	0.86771	0.1973	10	0.87932	D	0	.	16.0273	0.80551	0.0:0.0:0.8644:0.1356	.	122;129;120	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	I	129;120;122	ENSP00000373200:V129I;ENSP00000384575:V120I;ENSP00000384193:V122I	ENSP00000373200:V129I	V	+	1	0	CADM2	86015277	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	9.420000	0.97426	1.449000	0.47699	0.650000	0.86243	GTT		0.358	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		A	85932587	G	A	85932587	3	1	206	1	0	0	0	0	1	0	0	0	2567	1145	40	1	439	1	CADM2	3	85932587	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		85932587	112089843	13	14398											
MYLK	4638	broad.mit.edu	37	chr3	123333123	123333123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcccgtcctcatcgtaGtctatctggaagtggcggga	7	11	12	11	3	3	0	1	0	2	0	6	2	5	2	2	3	0	2	2	3	3	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:123333123G>A	ENST00000475616.1	-	31	5573	c.5574C>T	c.(5572-5574)gaC>gaT	p.D1858D	MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000583087.1_Silent_p.D98D|MYLK_ENST00000346322.5_Silent_p.D1789D|MYLK_ENST00000354792.5_Silent_p.D658D|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Silent_p.D98D|MYLK_ENST00000578202.1_Silent_p.D97D|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Silent_p.D1858D|MYLK_ENST00000359169.1_Silent_p.D1807D|MYLK_ENST00000360772.3_Silent_p.D1807D			Q15746	MYLK_HUMAN	myosin light chain kinase	1858	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCATCGTAGTCTATCTGGA	0.502																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5572-5574)gaC>gaT		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							132	133	132					3																	123333123		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333123G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5574C>T	3.37:g.123333123G>A						MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.D98D|MYLK_uc003egm.3_Silent_p.D97D|MYLK_uc010hrr.3_Silent_p.D293D|MYLK_uc011bjv.2_Silent_p.D658D|MYLK_uc011bjw.2_Silent_p.D1857D|MYLK_uc003egp.3_Silent_p.D1789D|MYLK_uc003egq.3_Silent_p.D1807D|MYLK_uc003egr.3_Silent_p.D1738D|MYLK_uc003egs.3_Silent_p.D1682D	p.D1858D	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	33	5856	-		Lung NSC(201;0.0496)	1858			Ig-like C2-type 9.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5574C>T	CCDS46896.1																																																																																				0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		A	123333123	G	A	123333123	2	1	206	1	0	0	0	0	0	0	0	1	10056	1020	36	3		3	MYLK	3	123333123	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	37400536	123333123	74689307	14	14399											
ZBBX	79740	broad.mit.edu	37	chr3	167035369	167035369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggtagcattttaaaaaGttgctcttgtggagttctac	10	16	9	6	0	3	0	0	0	3	0	3	1	3	1	0	2	3	5	0	2	5	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:167035369G>C	ENST00000392766.2	-	13	1340	c.1000C>G	c.(1000-1002)Ctt>Gtt	p.L334V	ZBBX_ENST00000455345.2_Missense_Mutation_p.L334V|ZBBX_ENST00000392764.1_Missense_Mutation_p.L305V|ZBBX_ENST00000307529.5_Missense_Mutation_p.L334V|ZBBX_ENST00000392767.2_Missense_Mutation_p.L334V|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	334						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTAAAAAGTTGCTCTTGT	0.348																																						uc011bpc.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1000-1002)Ctt>Gtt		Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.							153	139	143					3																	167035369		1831	4077	5908	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167035369G>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1000C>G	3.37:g.167035369G>C	ENSP00000376519:p.Leu334Val					ZBBX_uc003feq.3_Missense_Mutation_p.L305V|ZBBX_uc003fep.3_Missense_Mutation_p.L334V	p.L334V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN			12	1337	-			334					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1000C>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022533	0.35701	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11821	2.91;2.91;2.89;2.89;2.74	5.08	0.825	0.18824	.	1.007950	0.07977	N	0.984971	T	0.12603	0.0306	L	0.59436	1.845	0.09310	N	1	B;B	0.29432	0.244;0.158	B;B	0.24974	0.057;0.026	T	0.34179	-0.9839	10	0.38643	T	0.18	-0.0059	3.4709	0.07567	0.0905:0.3199:0.4251:0.1645	.	334;334	A8MT70-2;A8MT70	.;ZBBX_HUMAN	V	334;334;334;334;305	ENSP00000376519:L334V;ENSP00000376520:L334V;ENSP00000390232:L334V;ENSP00000305065:L334V;ENSP00000376517:L305V	ENSP00000305065:L334V	L	-	1	0	ZBBX	168518063	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.169000	0.31871	0.345000	0.23873	-0.188000	0.12872	CTT		0.348	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167035369	G	C	167035369	3	2	206	1	0	0	0	0	1	0	0	0	17513	1029	36	5	1438	5	ZBBX	3	167035369	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	43702246	167035369	30987061	15	14400											
ABCC5	10057	broad.mit.edu	37	chr3	183665139	183665139	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagagatggcgagaccCgcataggctgggggaatctg	11	6	16	8	2	1	2	0	0	1	2	1	5	1	3	1	4	0	3	1	4	3	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:183665139C>A	ENST00000334444.6	-	23	3627	c.3387G>T	c.(3385-3387)gcG>gcT	p.A1129A	ABCC5_ENST00000265586.6_Silent_p.A1086A	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1129	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGCGAGACCCGCATAGGCTG	0.567																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3385-3387)gcG>gcT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.							40	46	44					3																	183665139		2050	4178	6228	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665139C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3387G>T	3.37:g.183665139C>A						ABCC5_uc011bqt.2_Silent_p.A657A|ABCC5_uc010hxl.3_Silent_p.A1086A	p.A1129A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3552	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1129			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3387G>T	CCDS43176.1																																																																																				0.567	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		A	183665139	C	A	183665139	2	1	206	1	0	0	0	0	0	0	0	1	56	639	23	5		5	ABCC5	3	183665139	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	16629770	183665139	14357291	16	14401											
EIF4G1	1981	broad.mit.edu	37	chr3	184044341	184044341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgattctaacaaccaGctctttgcacctggagggcg	9	10	9	13	2	2	0	0	0	2	0	4	2	3	1	3	2	4	2	3	2	2	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:184044341G>A	ENST00000346169.2	+	22	3520	c.3249G>A	c.(3247-3249)caG>caA	p.Q1083Q	EIF4G1_ENST00000424196.1_Silent_p.Q1090Q|EIF4G1_ENST00000342981.4_Silent_p.Q1084Q|EIF4G1_ENST00000382330.3_Silent_p.Q1090Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Silent_p.Q1090Q|EIF4G1_ENST00000350481.5_Silent_p.Q919Q|EIF4G1_ENST00000411531.1_Silent_p.Q1044Q|EIF4G1_ENST00000414031.1_Silent_p.Q1043Q|EIF4G1_ENST00000435046.2_Silent_p.Q887Q|EIF4G1_ENST00000441154.1_Silent_p.Q920Q|EIF4G1_ENST00000392537.2_Silent_p.Q996Q|EIF4G1_ENST00000427845.1_Silent_p.Q997Q|EIF4G1_ENST00000319274.6_Silent_p.Q1083Q|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Silent_p.Q888Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1083	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAACAACCAGCTCTTTGCAC	0.587																																						uc003fnp.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3247-3249)caG>caA		Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.							94	88	90					3																	184044341		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184044341G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3249G>A	3.37:g.184044341G>A						EIF4G1_uc010hxx.3_Silent_p.Q1090Q|EIF4G1_uc003fnt.3_Silent_p.Q794Q|EIF4G1_uc010hxy.3_Silent_p.Q1090Q|EIF4G1_uc003fnq.3_Silent_p.Q996Q|EIF4G1_uc003fnr.3_Silent_p.Q919Q|EIF4G1_uc003fns.3_Silent_p.Q1043Q|EIF4G1_uc003fnv.4_Silent_p.Q1084Q|EIF4G1_uc003fnw.3_Silent_p.Q1090Q|EIF4G1_uc003fnx.3_Silent_p.Q888Q	p.Q1083Q	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	3520	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1083			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.3249G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107592	0.20714	.	.	ENSG00000114867	ENST00000448284	.	.	.	6.17	1.83	0.25207	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	-15.1377	6.9171	0.24365	0.2723:0.0:0.6084:0.1193	.	.	.	.	N	137	.	.	S	+	2	0	EIF4G1	185527035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.944000	0.40263	0.450000	0.26774	-0.137000	0.14449	AGC		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184044341	G	A	184044341	2	1	206	1	0	0	0	0	0	0	0	1	5036	962	34	3		3	EIF4G1	3	184044341	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	379202	184044341	13978089	17	14402											
CCDC96	257236	broad.mit.edu	37	chr4	7043696	7043696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcgtcgccactccttctCcaccctggtgagcttctcct	5	11	8	17	2	2	1	0	1	2	0	6	2	3	1	5	1	2	1	5	1	1	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:7043696C>A	ENST00000310085.4	-	1	1032	c.970G>T	c.(970-972)Gag>Tag	p.E324*	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	324										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CACTCCTTCTCCACCCTGGTG	0.642																																						uc003gjv.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(970-972)Gag>Tag		Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.							72	77	75					4																	7043696		2203	4300	6503	SO:0001587	stop_gained	257236							g.chr4:7043696C>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.970G>T	4.37:g.7043696C>A	ENSP00000309285:p.Glu324*					LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	p.E324*	NM_153376	NP_699207	Q2M329	CCD96_HUMAN			0	1033	-			324					Q8N2I7	Nonsense_Mutation	SNP	ENST00000310085.4	37	c.970G>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531223	0.85706	.	.	ENSG00000173013	ENST00000310085	.	.	.	3.89	3.89	0.44902	.	0.177748	0.34853	N	0.003628	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.8253	12.0768	0.53649	0.0:0.7689:0.2311:0.0	.	.	.	.	X	324	.	ENSP00000309285:E324X	E	-	1	0	CCDC96	7094597	1.000000	0.71417	0.729000	0.30791	0.197000	0.23852	1.169000	0.31871	2.010000	0.58986	0.462000	0.41574	GAG		0.642	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		A	7043696	C	A	7043696	4	1	206	1	0	0	0	0	0	1	0	0	2874	864	30	5	701	5	CCDC96	4	7043696	Nonsense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		7043696	184110580	18	14403											
FGFBP1	9982	broad.mit.edu	37	chr4	15937922	15937922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggcaacttgtttccaatAgactctctcatccttgagct	8	13	7	13	1	2	2	1	1	1	1	5	2	4	2	3	1	2	3	3	1	3	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:15937922A>G	ENST00000382333.1	-	3	628	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	FGFBP1_ENST00000259988.2_Missense_Mutation_p.Y112H	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	112					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TGTTTCCAATAGACTCTCTCA	0.448																																						uc003gom.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(334-336)Tat>Cat		Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.							107	102	104					4																	15937922		2203	4300	6503	SO:0001583	missense	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15937922A>G	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.334T>C	4.37:g.15937922A>G	ENSP00000371770:p.Tyr112His					FGFBP1_uc021xml.1_Missense_Mutation_p.Y112H	p.Y112H	NM_005130	NP_005121	Q14512	FGFP1_HUMAN			2	629	-			112					A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	c.334T>C	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540738	0.45280	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.42900	0.96;0.96	5.51	5.51	0.81932	.	0.059468	0.64402	D	0.000001	T	0.65471	0.2694	M	0.79475	2.455	0.39925	D	0.974211	D	0.89917	1.0	D	0.79108	0.992	T	0.71873	-0.4461	10	0.87932	D	0	-8.8227	14.6039	0.68463	1.0:0.0:0.0:0.0	.	112	Q14512	FGFP1_HUMAN	H	112	ENSP00000371770:Y112H;ENSP00000259988:Y112H	ENSP00000259988:Y112H	Y	-	1	0	FGFBP1	15547020	0.996000	0.38824	0.092000	0.20876	0.021000	0.10359	3.918000	0.56432	2.111000	0.64477	0.448000	0.29417	TAT		0.448	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		G	15937922	A	G	15937922	3	3	206	1	0	0	0	0	1	0	0	0	5860	420	15	4	374	4	FGFBP1	4	15937922	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	8894226	15937922	175216354	19	14404											
ARAP2	116984	broad.mit.edu	37	chr4	36168644	36168644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacattcataggaattatgGtaataccaagtccactctta	14	13	5	9	0	2	0	1	0	1	0	3	1	3	1	2	2	2	1	2	2	8	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:36168644G>C	ENST00000303965.4	-	10	2372	c.1883C>G	c.(1882-1884)aCc>aGc	p.T628S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	628	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGAATTATGGTAATACCAAG	0.294																																						uc003gsq.2																			0		p.T628P(1)|p.T628T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(1882-1884)aCc>aGc		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.							84	83	83					4																	36168644		2202	4299	6501	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36168644G>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1883C>G	4.37:g.36168644G>C	ENSP00000302895:p.Thr628Ser					ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	p.T628S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			9	2221	-			628			PH 2.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.1883C>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799448	0.70567	.	.	ENSG00000047365	ENST00000303965	T	0.74737	-0.87	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.185209	0.46758	D	0.000266	T	0.75766	0.3894	L	0.45137	1.4	0.39118	D	0.961616	P;P	0.45986	0.87;0.644	P;B	0.51550	0.673;0.407	T	0.71748	-0.4499	10	0.19590	T	0.45	.	17.7507	0.88432	0.0:0.0:1.0:0.0	.	558;628	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	S	628	ENSP00000302895:T628S	ENSP00000302895:T628S	T	-	2	0	ARAP2	35845039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.093000	0.57714	2.704000	0.92352	0.650000	0.86243	ACC		0.294	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		C	36168644	G	C	36168644	3	2	206	1	0	0	0	0	1	0	0	0	839	1261	44	5	3327	5	ARAP2	4	36168644	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	20230722	36168644	154985632	20	14405											
RBM47	54502	broad.mit.edu	37	chr4	40440352	40440352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatcttgtcggccgCgctggcgtagacgatcacgt	5	12	12	12	6	4	1	2	0	2	1	5	2	4	1	1	2	0	3	1	2	1	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:40440352C>T	ENST00000381793.2	-	3	955	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	RBM47_ENST00000319592.4_Missense_Mutation_p.A187T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.A149T|RBM47_ENST00000381795.6_Missense_Mutation_p.A187T|RBM47_ENST00000295971.7_Missense_Mutation_p.A187T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	187	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGTCGGCCGCGCTGGCGTAG	0.637																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(559-561)Gcg>Acg		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							59	53	55					4																	40440352		2203	4298	6501	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440352C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.559G>A	4.37:g.40440352C>T	ENSP00000371212:p.Ala187Thr					RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	p.A187T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1269	-			187			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.559G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466338	0.63625	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473	T;T;T;T;T;T;T	0.25085	2.33;2.21;2.33;2.21;2.23;1.91;1.82	5.8	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.78344	2.41	0.80722	D	1	D;P	0.69078	0.997;0.898	D;P	0.77004	0.989;0.713	T	0.51779	-0.8662	10	0.52906	T	0.07	-23.8865	15.2783	0.73760	0.0:0.9317:0.0:0.0683	.	187;187	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	187;187;187;187;149;187;187	ENSP00000320108:A187T;ENSP00000371212:A187T;ENSP00000371214:A187T;ENSP00000295971:A187T;ENSP00000423243:A149T;ENSP00000422564:A187T;ENSP00000421589:A187T	ENSP00000295971:A187T	A	-	1	0	RBM47	40135109	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.999000	0.70665	2.747000	0.94245	0.462000	0.41574	GCG		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440352	C	T	40440352	3	4	206	1	0	0	0	0	1	0	0	0	13141	768	27	1	1238	1	RBM47	4	40440352	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	4271708	40440352	150713924	21	14406											
TMEM150C	441027	broad.mit.edu	37	chr4	83417295	83417295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccactaatattcagccacgGgtttaaaaccttcggtttca	11	13	6	11	2	2	0	2	0	0	0	4	0	3	0	3	2	2	2	3	2	4	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:83417295G>T	ENST00000515780.2	-	6	493	c.289C>A	c.(289-291)Ccg>Acg	p.P97T	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000508701.1_Missense_Mutation_p.P97T|TMEM150C_ENST00000449862.2_Missense_Mutation_p.P97T			B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral component of membrane (GO:0016021)				ovary(1)	1						TTCAGCCACGGGTTTAAAACC	0.418																																						uc011ccj.1																			0				ovary(1)	1						c.(379-381)Ccg>Acg		Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.							102	103	103					4																	83417295		1885	4111	5996	SO:0001583	missense	441027					integral to membrane		g.chr4:83417295G>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.289C>A	4.37:g.83417295G>T	ENSP00000420919:p.Pro97Thr					TMEM150C_uc003hmy.1_Missense_Mutation_p.P97T	p.P127T	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN			5	494	-			97					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.379C>A	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928544	0.52759	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701	T;T;T	0.40756	1.02;1.02;1.02	5.77	5.77	0.91146	.	.	.	.	.	T	0.55449	0.1921	L	0.41710	1.295	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.966	T	0.37526	-0.9702	9	0.16420	T	0.52	-7.307	19.9947	0.97381	0.0:0.0:1.0:0.0	.	97;97	B9EJG8-2;B9EJG8	.;T150C_HUMAN	T	97	ENSP00000403438:P97T;ENSP00000420919:P97T;ENSP00000421812:P97T	ENSP00000403438:P97T	P	-	1	0	TMEM150C	83636319	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	8.690000	0.91272	2.736000	0.93811	0.305000	0.20034	CCG		0.418	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		T	83417295	G	T	83417295	3	4	206	1	0	0	0	0	1	0	0	0	16066	1232	43	5	472	5	TMEM150C	4	83417295	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	42976943	83417295	107736981	22	14407											
ENPEP	2028	broad.mit.edu	37	chr4	111430927	111430927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctcatcaaaccaacagagGgtggccactgtggttgccca	10	7	11	13	0	2	1	2	0	0	1	2	1	2	1	4	3	3	1	4	3	2	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:111430927G>T	ENST00000265162.5	+	5	1500	c.1158G>T	c.(1156-1158)agG>agT	p.R386S	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	386					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACCAACAGAGGGTGGCCACTG	0.453																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1156-1158)agG>agT		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						131	125	127					4																	111430927		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111430927G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1158G>T	4.37:g.111430927G>T	ENSP00000265162:p.Arg386Ser						p.R386S	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	4	1500	+		Hepatocellular(203;0.217)	386					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1158G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937727	0.34189	.	.	ENSG00000138792	ENST00000265162	T	0.02579	4.24	5.63	-2.87	0.05700	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.63957	0.92	T	0.00079	-1.2111	10	0.38643	T	0.18	.	9.7422	0.40424	0.6806:0.0:0.2085:0.111	.	386	Q07075	AMPE_HUMAN	S	386	ENSP00000265162:R386S	ENSP00000265162:R386S	R	+	3	2	ENPEP	111650376	0.994000	0.37717	0.803000	0.32268	0.283000	0.27025	0.414000	0.21164	-1.163000	0.02793	-0.251000	0.11542	AGG		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			T	111430927	G	T	111430927	3	4	206	1	0	0	0	0	1	0	0	0	5128	1223	43	5	1176	5	ENPEP	4	111430927	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	28013632	111430927	79723349	23	14408											
ALPK1	80216	broad.mit.edu	37	chr4	113353567	113353567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctatctgaattccagtgGgagttcttgggtttcattgc	6	16	11	8	0	3	1	1	1	2	0	5	2	5	2	2	2	1	2	2	2	2	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:113353567G>A	ENST00000458497.1	+	11	3143	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ALPK1_ENST00000177648.9_Missense_Mutation_p.G955E|ALPK1_ENST00000504176.2_Missense_Mutation_p.G877E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	955	Ser-rich.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATTCCAGTGGGAGTTCTTGG	0.512																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2863-2865)gGg>gAg		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							77	75	76					4																	113353567		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353567G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2864G>A	4.37:g.113353567G>A	ENSP00000398048:p.Gly955Glu					ALPK1_uc003iap.4_Missense_Mutation_p.G955E|ALPK1_uc011cfx.2_Missense_Mutation_p.G877E|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.G783E	p.G955E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	3091	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	955			Ser-rich.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2864G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842460	0.32513	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02787	4.23;4.23;4.16	5.47	4.62	0.57501	.	0.708276	0.13687	N	0.369764	T	0.09992	0.0245	M	0.65975	2.015	0.09310	N	1	D;D;D	0.59767	0.977;0.986;0.961	P;P;P	0.54060	0.73;0.741;0.541	T	0.12967	-1.0527	10	0.40728	T	0.16	-8.4902	15.0984	0.72253	0.0:0.3999:0.6001:0.0	.	877;877;955	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	955;955;877	ENSP00000398048:G955E;ENSP00000177648:G955E;ENSP00000426044:G877E	ENSP00000177648:G955E	G	+	2	0	ALPK1	113573016	0.555000	0.26530	0.003000	0.11579	0.165000	0.22458	2.202000	0.42743	1.282000	0.44496	-0.176000	0.13171	GGG		0.512	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113353567	G	A	113353567	3	1	206	1	0	0	0	0	1	0	0	0	544	1232	43	3	2898	3	ALPK1	4	113353567	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	1922640	113353567	77800709	24	14409											
PPID	5481	broad.mit.edu	37	chr4	159638287	159638287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagttggaactgttgtgatAaaaaactgagaaccgtttgt	13	12	12	4	1	0	2	0	2	0	1	0	5	0	4	1	2	3	3	1	2	5	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:159638287A>C	ENST00000307720.3	-	4	506	c.399T>G	c.(397-399)ttT>ttG	p.F133L		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	133	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CTGTTGTGATAAAAAACTGAG	0.403																																						uc003iqc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(397-399)ttT>ttG		Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.							126	128	127					4																	159638287		2203	4300	6503	SO:0001583	missense	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159638287A>C		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.399T>G	4.37:g.159638287A>C	ENSP00000303754:p.Phe133Leu						p.F133L	NM_005038	NP_005029	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	3	511	-	all_hematologic(180;0.24)		133			PPIase cyclophilin-type.		B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	c.399T>G	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509803	0.85282	.	.	ENSG00000171497	ENST00000307720	T	0.32515	1.45	5.1	-2.51	0.06365	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.44483	D	0.000457	T	0.62282	0.2415	H	0.95504	3.68	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.73291	-0.4029	10	0.87932	D	0	-19.882	13.6704	0.62420	0.4331:0.0:0.5668:0.0	.	133	Q08752	PPID_HUMAN	L	133	ENSP00000303754:F133L	ENSP00000303754:F133L	F	-	3	2	PPID	159857737	0.458000	0.25760	0.992000	0.48379	0.997000	0.91878	-0.191000	0.09601	-0.298000	0.08921	0.533000	0.62120	TTT		0.403	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		C	159638287	A	C	159638287	3	2	206	1	0	0	0	0	1	0	0	0	12321	359	13	5	741	5	PPID	4	159638287	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	46284720	159638287	31515989	25	14410											
TUBB4Q	56604	broad.mit.edu	37	chr4	190903815	190903815	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggaggaaggccttgcGcctgaacgttgctgtaaact	9	9	13	10	2	0	1	0	1	0	0	0	3	0	3	3	3	4	3	3	3	4	3	rs17799221	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:190903815G>A								FRG1 (19456 upstream) : RNA5SP174 (32477 downstream)																							AAGGCCTTGCGCCTGAACGTT	0.547																																						uc011clg.2																			0											c.(952-954)Cgc>Tgc		Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.							117	142	134					4																	190903815		2200	4300	6500	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190903815G>A																													4.37:g.190903815G>A							p.R318C			Q99867	TBB4Q_HUMAN			3	1170	-			390						Missense_Mutation	SNP		37	c.952C>T																																																																																				0	0.547									A	190903815	G	A	190903815	1	1	206	0	1	0	0	0	0	0	0	0	16756	1087	38	1		1	TUBB4Q	4	190903815	IGR	SNP	G	TCGA-28-2513-01A-01D-1494-08	31265528	190903815	250461	26	14411											
PIK3R1	5295	broad.mit.edu	37	chr5	67591085	67591085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgagtatcgagaaattGacaaacgtatgaacagcatt	16	9	9	7	2	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	5	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:67591085G>C	ENST00000521381.1	+	13	2294	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	PIK3R1_ENST00000396611.1_Missense_Mutation_p.D560H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D197H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D560H|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D290H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D260H|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D560H	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	560					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.D560H(1)|p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TCGAGAAATTGACAAACGTAT	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		6	Substitution - Missense(2)|Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	p.D560H(2)|p.D560_S565del(2)|p.R557_K561>Q(2)|p.D560Y(2)|p.0?(1)|p.?(1)|p.R557_D560del(1)|p.I559V(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1678-1680)Gac>Cac		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						140	140	140					5																	67591085		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591085G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1678G>C	5.37:g.67591085G>C	ENSP00000428056:p.Asp560His	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290H|PIK3R1_uc003jve.3_Missense_Mutation_p.D239H|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197H|PIK3R1_uc011crb.2_Missense_Mutation_p.D230H	p.D560H	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2258	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	560					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1678G>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861945	0.91433	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.995;0.995;0.996	T	0.71237	-0.4652	10	0.72032	D	0.01	-30.0341	18.9011	0.92443	0.0:0.0:1.0:0.0	.	230;290;260;560	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	H	560;560;560;560;260;290;197	ENSP00000428056:D560H;ENSP00000429277:D560H;ENSP00000379855:D560H;ENSP00000274335:D560H;ENSP00000323512:D260H;ENSP00000338554:D290H;ENSP00000430098:D197H	ENSP00000274335:D560H	D	+	1	0	PIK3R1	67626841	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.601000	0.98297	2.773000	0.95371	0.585000	0.79938	GAC		0.358	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67591085	G	C	67591085	3	2	206	1	0	0	0	0	1	0	0	0	11918	1290	45	5	1854	5	PIK3R1	5	67591085	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		67591085	113324175	27	14412											
MCTP1	79772	broad.mit.edu	37	chr5	94288921	94288921	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacaaataaatggctcAcctttatatacaatggctcc	18	10	4	9	0	1	0	1	0	0	0	2	0	2	0	2	2	2	2	2	2	10	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:94288921A>G	ENST00000515393.1	-	3	981		c.e3+1		MCTP1_ENST00000429576.2_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAAATGGCTCACCTTTATATA	0.363																																						uc003kkx.2																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.e3+1		Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.							79	74	75					5																	94288921		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94288921A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.981+1T>C	5.37:g.94288921A>G						MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	p.K327_splice	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	3	981	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	327			C2 1.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	SNP	ENST00000515393.1	37	c.981_splice	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632301	0.67015	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000415885;ENST00000503301;ENST00000507214;ENST00000514780;ENST00000510732	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3236	0.74141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCTP1	94314677	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	8.827000	0.92041	2.075000	0.62263	0.377000	0.23210	.		0.363	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Intron	G	94288921	A	G	94288921	5	3	206	1	0	0	0	0	0	0	1	0	9400	173	6	4	2100	4	MCTP1	5	94288921	Splice_Site	SNP	A	TCGA-28-2513-01A-01D-1494-08	26697836	94288921	86626339	28	14413											
YIPF5	81555	broad.mit.edu	37	chr5	143540055	143540055	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatggctaatgcagaaataAatattttggaagcagaaaaa	19	9	8	5	0	0	2	0	0	0	2	0	3	0	3	1	2	2	3	1	2	8	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:143540055A>C	ENST00000274496.5	-	6	814	c.680T>G	c.(679-681)tTt>tGt	p.F227C	YIPF5_ENST00000513112.1_Missense_Mutation_p.F173C|YIPF5_ENST00000448443.2_Missense_Mutation_p.F227C	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	227					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGCAGAAATAAATATTTTGGA	0.388																																						uc003lnk.4																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9						c.(679-681)tTt>tGt		Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.							63	68	66					5																	143540055		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143540055A>C	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.680T>G	5.37:g.143540055A>C	ENSP00000274496:p.Phe227Cys					YIPF5_uc003lnl.4_Missense_Mutation_p.F227C|YIPF5_uc010jgl.3_Missense_Mutation_p.F173C	p.F227C	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		5	1121	-		all_hematologic(541;0.118)	227					D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.680T>G	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494486	0.85069	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064	T;T;T	0.44881	0.91;0.91;0.91	5.61	5.61	0.85477	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81642	-0.0840	10	0.87932	D	0	-13.1166	15.7982	0.78428	1.0:0.0:0.0:0.0	.	227	Q969M3	YIPF5_HUMAN	C	227;227;227;173;173	ENSP00000274496:F227C;ENSP00000397704:F227C;ENSP00000425422:F173C	ENSP00000274496:F227C	F	-	2	0	YIPF5	143520248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.245000	0.95431	2.132000	0.65825	0.533000	0.62120	TTT		0.388	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		C	143540055	A	C	143540055	3	2	206	1	0	0	0	0	1	0	0	0	17478	14	1	5	97	5	YIPF5	5	143540055	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	49251134	143540055	37375205	29	14414											
FAT2	2196	broad.mit.edu	37	chr5	150921921	150921921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttagagtcgccaccagttCgccaggctcactgttctcaa	8	11	8	14	2	2	1	2	0	1	1	5	1	2	1	3	1	0	3	3	1	2	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:150921921C>T	ENST00000261800.5	-	9	8779	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2923	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCACCAGTTCGCCAGGCTCA	0.512																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8767-8769)Gaa>Aaa		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							152	149	150					5																	150921921		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150921921C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8767G>A	5.37:g.150921921C>T	ENSP00000261800:p.Glu2923Lys						p.E2923K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	8780	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2923			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8767G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830112	0.32329	.	.	ENSG00000086570	ENST00000261800	T	0.50813	0.73	6.05	4.17	0.49024	Cadherin (3);Cadherin-like (1);	0.207947	0.33610	N	0.004724	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.61080	0.989	P	0.51945	0.685	T	0.26950	-1.0088	10	0.27785	T	0.31	.	9.1798	0.37134	0.0967:0.6846:0.152:0.0667	.	2923	Q9NYQ8	FAT2_HUMAN	K	2923	ENSP00000261800:E2923K	ENSP00000261800:E2923K	E	-	1	0	FAT2	150902114	0.900000	0.30661	0.342000	0.25602	0.040000	0.13550	2.217000	0.42880	0.907000	0.36646	-0.813000	0.03139	GAA		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150921921	C	T	150921921	3	4	206	1	0	0	0	0	1	0	0	0	5690	893	31	2	4342	2	FAT2	5	150921921	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	7381866	150921921	29993339	30	14415											
BTN3A2	11118	broad.mit.edu	37	chr6	26373202	26373202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctgctgcttctcgccGgagccagttacttcttgtgg	3	15	11	12	2	3	0	0	0	3	0	4	1	3	1	2	2	5	4	2	2	1	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:26373202G>A	ENST00000356386.2	+	6	981	c.793G>A	c.(793-795)Gga>Aga	p.G265R	BTN3A2_ENST00000527422.1_Missense_Mutation_p.G265R|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G265R|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G242R|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G223R|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G265R	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	265					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTTCTCGCCGGAGCCAGTTA	0.542																																						uc010jqh.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(793-795)Gga>Aga		Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.							82	82	82					6																	26373202		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26373202G>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.793G>A	6.37:g.26373202G>A	ENSP00000348751:p.Gly265Arg					BTN3A2_uc003nhp.3_Missense_Mutation_p.G265R|BTN3A2_uc011dkd.2_Missense_Mutation_p.G223R|BTN3A2_uc011dke.2_Missense_Mutation_p.G242R|BTN3A2_uc010jqi.2_Missense_Mutation_p.G265R	p.G265R	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN			5	1052	+			265					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.793G>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.774192	0.31411	.	.	ENSG00000186470	ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T	0.03982	3.87;3.87;3.74;3.87;3.87;4.32	1.56	0.666	0.17901	.	.	.	.	.	T	0.07413	0.0187	M	0.76170	2.325	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.16158	-1.0412	9	0.66056	D	0.02	.	4.1462	0.10217	0.2258:0.0:0.7742:0.0	.	242;265	F8W6E0;P78410	.;BT3A2_HUMAN	R	265;265;265;242;265;265;223	ENSP00000432138:G265R;ENSP00000348751:G265R;ENSP00000380140:G242R;ENSP00000366937:G265R;ENSP00000380152:G265R;ENSP00000442687:G223R	ENSP00000348751:G265R	G	+	1	0	BTN3A2	26481181	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.185000	0.16958	0.228000	0.21019	-0.495000	0.04643	GGA		0.542	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			A	26373202	G	A	26373202	3	1	206	1	0	0	0	0	1	0	0	0	1563	1117	39	2	807	2	BTN3A2	6	26373202	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		26373202	144741865	31	14416											
PRSS35	167681	broad.mit.edu	37	chr6	84234218	84234218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcgggggtctatctgcGtctgaaagatccagacaaaa	11	9	12	9	3	3	3	0	1	3	2	5	3	4	3	1	3	1	1	1	3	4	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:84234218G>A	ENST00000369700.3	+	2	1235	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PRSS35_ENST00000536636.1_Missense_Mutation_p.R353H	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	353	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.R353H(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTCTATCTGCGTCTGAAAGAT	0.512																																						uc003pjz.3																			1	Substitution - Missense(1)	p.R353H(2)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1057-1059)cGt>cAt		Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.							85	85	85					6																	84234218		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234218G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1058G>A	6.37:g.84234218G>A	ENSP00000358714:p.Arg353His					PRSS35_uc010kbm.3_Missense_Mutation_p.R353H|PRSS35_uc021zce.1_Missense_Mutation_p.R353H	p.R353H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	1	1298	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	353			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.1058G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968301	0.92855	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.52526	0.66;0.66	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.169199	0.48767	D	0.000165	T	0.67896	0.2942	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69840	-0.5036	10	0.87932	D	0	-12.7826	20.2946	0.98546	0.0:0.0:1.0:0.0	.	353	Q8N3Z0	PRS35_HUMAN	H	353	ENSP00000440870:R353H;ENSP00000358714:R353H	ENSP00000358714:R353H	R	+	2	0	PRSS35	84290937	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	CGT		0.512	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		A	84234218	G	A	84234218	3	1	206	1	0	0	0	0	1	0	0	0	12624	1145	40	1	1060	1	PRSS35	6	84234218	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	57861016	84234218	86880849	32	14417											
REPS1	85021	broad.mit.edu	37	chr6	139251126	139251126	+	Frame_Shift_Del	DEL	A	A	-																															ttgctaacctcactgctctgAttcagctcaggccatgtctg																										TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:139251126delA	ENST00000450536.2	-	9	1819	c.1245delT	c.(1243-1245)aatfs	p.N415fs	REPS1_ENST00000415951.2_Frame_Shift_Del_p.N415fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.N415fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.N415fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.N415fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	415					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACTGCTCTGATTCAGCTCAG	0.448																																						uc003qii.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1243-1245)aatfs		Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.							175	150	158					6																	139251126		2203	4300	6503	SO:0001589	frameshift_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139251126delA		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1245delT	6.37:g.139251126delA	ENSP00000392065:p.Asn415fs					REPS1_uc003qig.4_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.3_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.3_Frame_Shift_Del_p.N48fs	p.N415fs	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	8	1824	-			415					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Frame_Shift_Del	DEL	ENST00000450536.2	37	c.1245delT																																																																																					0.448	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			-	139251126	A	-	139251126	7	5	206	1	0	1	0	1	0	0	0	0	13228	330	12	0	1193	0	REPS1	6	139251126	Frame_Shift_Del	DEL	A	TCGA-28-2513-01A-01D-1494-08	55016908	139251126	31863941	33	14418											
OPRM1	4988	broad.mit.edu	37	chr6	154412222	154412222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggactgatgatcttgcGcctcaagagtgtccgcatgc	8	11	11	11	2	2	3	1	2	1	1	3	4	3	4	2	1	2	1	2	1	2	2	rs1799974	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:154412222G>A	ENST00000330432.7	+	3	1016	c.779G>A	c.(778-780)cGc>cAc	p.R260H	OPRM1_ENST00000520708.1_Missense_Mutation_p.R160H|OPRM1_ENST00000435918.2_Missense_Mutation_p.R260H|OPRM1_ENST00000522555.1_Missense_Mutation_p.R160H|OPRM1_ENST00000434900.2_Missense_Mutation_p.R353H|OPRM1_ENST00000414028.2_Missense_Mutation_p.R260H|OPRM1_ENST00000337049.4_Missense_Mutation_p.R260H|OPRM1_ENST00000428397.2_Missense_Mutation_p.R260H|OPRM1_ENST00000522236.1_Missense_Mutation_p.R160H|OPRM1_ENST00000524163.1_Missense_Mutation_p.R260H|OPRM1_ENST00000229768.5_Missense_Mutation_p.R260H|OPRM1_ENST00000518759.1_Missense_Mutation_p.R179H|OPRM1_ENST00000452687.2_Missense_Mutation_p.R260H|OPRM1_ENST00000419506.2_Missense_Mutation_p.R260H|OPRM1_ENST00000360422.4_Missense_Mutation_p.R260H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	260			R -> H (rare polymorphism; dbSNP:rs1799974). {ECO:0000269|PubMed:9689128}.		adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R260H(4)|p.R353H(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATGATCTTGCGCCTCAAGAGT	0.502													G|||	3	0.000599042	0	0.0014	5008	,	,		20227	0		0	False		,,,				2504	0.002					uc011efe.2																			6	Substitution - Missense(6)	p.R260H(4)|p.R353H(2)	large_intestine(6)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33	GRCh37	CM016140	OPRM1	M	rs1799974	c.(1057-1059)cGc>cAc		Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	5,4359		0,5,2177	172	173	173		779,779,779,779,1058,479,536,779,779,779,779,779,479	6	1	6	dbSNP_89	173	7,8569		0,7,4281	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001008504.2,NM_001008505.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1	29,29,29,29,29,29,29,29,29,29,29,29,29	0,12,6458	AA,AG,GG		0.0816,0.1146,0.0927	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/401,260/419,260/393,260/447,353/494,160/301,179/320,260/407,260/398,260/404,260/390,260/421,160/301	154412222	12,12928	2182	4288	6470	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412222G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.779G>A	6.37:g.154412222G>A	ENSP00000328264:p.Arg260His					OPRM1_uc011efd.2_Missense_Mutation_p.R160H|OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.2_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpr.2_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	p.R353H	NM_001145279	NP_001138751	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1581	+		Ovarian(120;0.196)	260					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1058G>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084463	0.94100	0.001146	8.16E-4	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.71871	2.18	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.979;1.0;1.0	T	0.58025	-0.7709	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	rs1799974	260;260;260;260;353;179;160;260;260;260;260;260	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	353;160;179;260;260;260;260;260;260;260;260;260;260;160;160	ENSP00000394624:R353H;ENSP00000430876:R160H;ENSP00000430260:R179H;ENSP00000328264:R260H;ENSP00000353598:R260H;ENSP00000411903:R260H;ENSP00000410497:R260H;ENSP00000229768:R260H;ENSP00000403549:R260H;ENSP00000430097:R260H;ENSP00000399359:R260H;ENSP00000413752:R260H;ENSP00000338381:R260H;ENSP00000429719:R160H;ENSP00000429373:R160H	ENSP00000229768:R260H	R	+	2	0	OPRM1	154453915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	CGC		0.502	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154412222	G	A	154412222	3	1	206	1	0	0	0	0	1	0	0	0	10887	1087	38	1	1123	1	OPRM1	6	154412222	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	15161096	154412222	16702845	34	14419											
RABGEF1	27342	broad.mit.edu	37	chr7	66240254	66240254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctttgccagcagtcagAgcagccaaggggcccaatcc	10	5	12	14	0	1	1	1	0	0	1	2	1	2	1	5	3	4	2	5	3	2	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:66240254A>T	ENST00000284957.5	+	3	297	c.220A>T	c.(220-222)Agc>Tgc	p.S74C	RABGEF1_ENST00000437078.2_Missense_Mutation_p.S88C|RABGEF1_ENST00000439720.2_Missense_Mutation_p.S87C|KCTD7_ENST00000451741.2_Missense_Mutation_p.S74C|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.S114C|KCTD7_ENST00000510829.2_Missense_Mutation_p.S74C|RABGEF1_ENST00000450873.2_Missense_Mutation_p.S74C			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	252					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAGCAGTCAGAGCAGCCAAGG	0.473																																						uc003tvf.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27								Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							37	39	38					7																	66240254		2203	4297	6500	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240254A>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.220A>T	7.37:g.66240254A>T	ENSP00000284957:p.Ser74Cys					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.S74C|RABGEF1_uc010lag.3_Missense_Mutation_p.S74C|RABGEF1_uc011kee.2_Missense_Mutation_p.S88C|RABGEF1_uc003tvi.3_5'UTR		NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			5		+								B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37		CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.436799	0.62955	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.47869	0.83;0.84;0.84;0.84;0.84;0.83;0.83	5.56	5.56	0.83823	.	0.223471	0.47852	D	0.000204	T	0.34716	0.0907	N	0.22421	0.69	0.45930	D	0.99876	P	0.35527	0.507	B	0.37091	0.241	T	0.30208	-0.9986	10	0.62326	D	0.03	-11.8038	9.4034	0.38447	0.9212:0.0:0.0788:0.0	.	88	B4DZM7	.	C	119;114;74;74;74;74;74;87;88	ENSP00000370208:S114C;ENSP00000421124:S74C;ENSP00000398177:S74C;ENSP00000284957:S74C;ENSP00000415815:S74C;ENSP00000403429:S87C;ENSP00000390480:S88C	ENSP00000370207:S119C	S	+	1	0	RABGEF1;KCTD7	65877689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.773000	0.55333	2.115000	0.64714	0.528000	0.53228	AGC		0.473	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		T	66240254	A	T	66240254	3	4	206	1	0	0	0	0	1	0	0	0	12966	304	11	5	226	5	RABGEF1	7	66240254	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08		66240254	92898409	35	14420											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagttatccctcctaaagCgctgccttcactagtcaaat	11	11	5	14	1	2	0	2	0	0	0	4	0	4	0	4	0	2	2	4	0	5	4	rs144397367		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:113519322C>T	ENST00000284601.3	-	4	1893	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	609					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1825-1827)Gct>Act		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.		C	THR/ALA	0,4406		0,0,2203	115	111	112		1825	-12	0	7	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R3A	NM_002711.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	609/1123	113519322	1,13005	2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519322C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1825G>A	7.37:g.113519322C>T	ENSP00000284601:p.Ala609Thr						p.A609T	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	1856	-			609					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1825G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228281	0.01518	0.0	1.16E-4	ENSG00000154415	ENST00000284601	T	0.14266	2.52	6.02	-12.0	0.00017	.	2.198090	0.01457	N	0.015715	T	0.06462	0.0166	N	0.20685	0.6	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.18903	-1.0322	10	0.10111	T	0.7	-0.5299	8.0274	0.30444	0.0614:0.3295:0.3891:0.22	.	609	Q16821	PPR3A_HUMAN	T	609	ENSP00000284601:A609T	ENSP00000284601:A609T	A	-	1	0	PPP1R3A	113306558	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.556000	0.00432	-4.519000	0.00044	-1.913000	0.00520	GCT		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113519322	C	T	113519322	3	4	206	1	0	0	0	0	1	0	0	0	12371	768	27	1	1547	1	PPP1R3A	7	113519322	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	47279068	113519322	45619341	36	14421											
ZNF786	136051	broad.mit.edu	37	chr7	148769373	148769373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatttctgggacctgggattCcttcttttagggtagattca	7	16	11	7	0	3	1	1	0	2	1	4	4	4	3	2	3	0	1	2	3	2	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:148769373C>T	ENST00000491431.1	-	4	555	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF786_ENST00000451334.3_Missense_Mutation_p.G127E|ZNF786_ENST00000316286.9_Missense_Mutation_p.G78E	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACCTGGGATTCCTTCTTTTAG	0.617																																						uc003wfh.2																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(490-492)gGa>gAa		Homo sapiens zinc finger protein 786 (ZNF786), mRNA.							36	40	38					7																	148769373		1891	4127	6018	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769373C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.491G>A	7.37:g.148769373C>T	ENSP00000417470:p.Gly164Glu					ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	p.G164E	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	628	-	Melanoma(164;0.15)		164					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.491G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	0.235	-1.018147	0.02078	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.07216	3.21;3.31;3.27	4.21	-3.86	0.04230	.	1.414310	0.04844	N	0.441151	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37686	-0.9695	10	0.06891	T	0.86	1.6265	1.5189	0.02512	0.1248:0.2333:0.233:0.409	.	164	Q8N393	ZN786_HUMAN	E	78;78;164;127	ENSP00000313516:G78E;ENSP00000417470:G164E;ENSP00000404984:G127E	ENSP00000313516:G78E	G	-	2	0	ZNF786	148400306	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.892000	0.04131	-0.766000	0.04639	-0.278000	0.10074	GGA		0.617	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		T	148769373	C	T	148769373	3	4	206	1	0	0	0	0	1	0	0	0	18155	855	30	3	1861	3	ZNF786	7	148769373	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	35250051	148769373	10369290	37	14422											
KRBA1	84626	broad.mit.edu	37	chr7	149427522	149427522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttgtgacgttagagagGgaccgccttcccagctgtaa	8	12	12	9	2	0	2	0	1	0	1	1	4	1	3	3	1	1	4	3	1	2	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:149427522G>A	ENST00000485033.2	+	13	1827	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	KRBA1_ENST00000255992.10_Silent_p.R669R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.R609R			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	670	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTTAGAGAGGGACCGCCTTC	0.642																																						uc003wfz.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2005-2007)agG>agA		Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.							64	67	66					7																	149427522		2109	4222	6331	SO:0001819	synonymous_variant	84626							g.chr7:149427522G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1827G>A	7.37:g.149427522G>A						KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.R277R	p.R669R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		15	2406	+	Melanoma(164;0.165)|Ovarian(565;0.177)		670			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.2007G>A																																																																																					0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		A	149427522	G	A	149427522	2	1	206	1	0	0	0	0	0	0	0	1	8439	1223	43	3		3	KRBA1	7	149427522	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	658149	149427522	9711141	38	14423											
NSMAF	8439	broad.mit.edu	37	chr8	59512581	59512581	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccaagtttctgcaataCtacatatgaaaaaaaaattc	17	14	3	7	0	1	1	0	1	1	0	3	1	2	1	1	0	3	2	1	0	9	7	rs537630331		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:59512581C>T	ENST00000038176.3	-	17	1493		c.e17-1		NSMAF_ENST00000427130.2_Splice_Site|NSMAF_ENST00000519858.1_5'Flank	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCTGCAATACTACATATGAA	0.373																																						uc011lee.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.e17-1		Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.							102	101	101					8																	59512581		2203	4300	6503	SO:0001630	splice_region_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59512581C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1281-1G>A	8.37:g.59512581C>T						NSMAF_uc003xtt.3_Splice_Site_p.S427_splice	p.S458_splice	NM_001144772	NP_001138244	Q92636	FAN_HUMAN			17	1435	-		all_lung(136;0.174)|Lung NSC(129;0.2)	427			BEACH.		B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	c.1374_splice	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379985	0.82682	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59675135	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.568000	0.82369	2.941000	0.99782	0.655000	0.94253	.		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	Intron	T	59512581	C	T	59512581	5	4	206	1	0	0	0	0	0	0	1	0	10674	579	20	3	1533	3	NSMAF	8	59512581	Splice_Site	SNP	C	TCGA-28-2513-01A-01D-1494-08		59512581	86851441	39	14424											
PKHD1L1	93035	broad.mit.edu	37	chr8	110497284	110497284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctaaggagggagaagaGattgtgataacaaccacaag	16	9	11	5	0	1	3	0	1	1	2	1	6	1	4	1	2	2	0	1	2	5	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:110497284G>A	ENST00000378402.5	+	58	9692	c.9588G>A	c.(9586-9588)gaG>gaA	p.E3196E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3196					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGAGAAGAGATTGTGATAA	0.284										HNSCC(38;0.096)																												uc003yne.3																			0		p.E3195D(1)|p.G3196R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9586-9588)gaG>gaA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							66	62	63					8																	110497284		1814	4063	5877	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110497284G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9588G>A	8.37:g.110497284G>A		HNSCC(38;0.096)					p.E3196E	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		57	9692	+			3196					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.9588G>A	CCDS47911.1																																																																																				0.284	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110497284	G	A	110497284	2	1	206	1	0	0	0	0	0	0	0	1	11972	933	33	3		3	PKHD1L1	8	110497284	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	50984703	110497284	35866738	40	14425											
TRPS1	7227	broad.mit.edu	37	chr8	116426785	116426785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaatcagcttcactctgGaagtcattatgtacaaaggg	13	10	9	9	0	4	0	3	0	1	0	4	1	4	1	1	2	3	2	1	2	5	3	rs145393309		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:116426785G>T	ENST00000220888.5	-	6	3471	c.3312C>A	c.(3310-3312)ttC>ttA	p.F1104L	TRPS1_ENST00000520276.1_Missense_Mutation_p.F1108L|TRPS1_ENST00000519076.1_Missense_Mutation_p.F858L|TRPS1_ENST00000395715.3_Missense_Mutation_p.F1117L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1104	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F1104F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCACTCTGGAAGTCATTAT	0.473									Langer-Giedion syndrome																													uc003yny.3																			1	Substitution - coding silent(1)	p.F1104F(1)	skin(1)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3349-3351)ttC>ttA		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.							109	105	106					8																	116426785		1894	4120	6014	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426785G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3312C>A	8.37:g.116426785G>T	ENSP00000220888:p.Phe1104Leu					TRPS1_uc011lhy.2_Missense_Mutation_p.F1108L|TRPS1_uc003ynz.3_Missense_Mutation_p.F1104L|TRPS1_uc010mcy.3_Missense_Mutation_p.F1104L	p.F1117L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3929	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1104			Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3351C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.352|8.352	0.831025|0.831025	0.16820|0.16820	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.97752|.	-4.52;-4.49;-4.42;-4.49|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057867|.	0.64402|.	D|.	0.000001|.	T|T	0.35913|0.35913	0.0948|0.0948	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.19200|.	0.034;0.02;0.034|.	B;B;B|.	0.16289|.	0.015;0.007;0.015|.	T|T	0.24119|0.24119	-1.0169|-1.0169	10|5	0.33141|.	T|.	0.24|.	-0.0088|-0.0088	10.8912|10.8912	0.46996|0.46996	0.1135:0.0:0.8865:0.0|0.1135:0.0:0.8865:0.0	.|.	1108;1104;1117|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	L|T	1117;1104;858;1108|229	ENSP00000379065:F1117L;ENSP00000220888:F1104L;ENSP00000428910:F858L;ENSP00000428680:F1108L|.	ENSP00000220888:F1104L|.	F|P	-|-	3|1	2|0	TRPS1|TRPS1	116495961|116495961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.912000|2.912000	0.48782|0.48782	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	TTC|CCA		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116426785	G	T	116426785	3	4	206	1	0	0	0	0	1	0	0	0	16590	1165	41	5	537	5	TRPS1	8	116426785	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5929501	116426785	29937237	41	14426											
COL14A1	7373	broad.mit.edu	37	chr8	121293282	121293282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactccataaagatgccctgGtttcccagccaaccaggtat	12	9	7	13	0	0	1	0	0	0	1	2	1	2	1	5	2	4	2	5	2	5	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:121293282G>A	ENST00000297848.3	+	31	4078	c.3808G>A	c.(3808-3810)Gtt>Att	p.V1270I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V1270I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V1175I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATGCCCTGGTTTCCCAGCC	0.378																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3808-3810)Gtt>Att		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							89	94	92					8																	121293282		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121293282G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3808G>A	8.37:g.121293282G>A	ENSP00000297848:p.Val1270Ile					COL14A1_uc003yoz.3_Missense_Mutation_p.V235I	p.V1270I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		30	4073	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1270			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3808G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743981	0.49151	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.16324	2.35;2.35;2.35	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.183263	0.47093	D	0.000257	T	0.15825	0.0381	L	0.43923	1.385	0.80722	D	1	P	0.40083	0.702	B	0.36092	0.217	T	0.03739	-1.1008	10	0.22109	T	0.4	.	15.7118	0.77635	0.0:0.136:0.864:0.0	.	1270	Q05707	COEA1_HUMAN	I	1270;1270;1175	ENSP00000311809:V1270I;ENSP00000297848:V1270I;ENSP00000247781:V1175I	ENSP00000247781:V1175I	V	+	1	0	COL14A1	121362463	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	1.137000	0.31479	2.802000	0.96397	0.650000	0.86243	GTT		0.378	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121293282	G	A	121293282	3	1	206	1	0	0	0	0	1	0	0	0	3671	1261	44	3	3926	3	COL14A1	8	121293282	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	4866497	121293282	25070740	42	14427											
PTEN	5728	broad.mit.edu	37	chr10	89693009	89693009	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaggaccagagacaaaaagGtaagttattttttgatgttt	15	14	9	3	0	0	2	0	1	0	1	0	4	0	3	1	2	0	3	1	2	5	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:89693009G>T	ENST00000371953.3	+	5	1849		c.e5+1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACAAAAAGGTAAGTTATTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		48	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(3)|Complex - compound substitution(1)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD020869	PTEN	D		c.e5+1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							47	49	48					10																	89693009		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89693009G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.492+1G>T	10.37:g.89693009G>T		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.K164_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1524	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	164			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.492_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202455	0.79127	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89682989	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.429000	0.97481	2.341000	0.79615	0.563000	0.77884	.		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	T	89693009	G	T	89693009	5	4	206	1	0	0	0	0	0	0	1	0	12738	1275	44	5	511	5	PTEN	10	89693009	Splice_Site	SNP	G	TCGA-28-2513-01A-01D-1494-08		89693009	45841738	43	14428											
PIK3AP1	118788	broad.mit.edu	37	chr10	98411291	98411291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaattccacaggattcGcggcattggacaataaattc	14	10	8	9	2	0	1	0	1	0	0	3	3	1	3	1	3	0	1	1	3	4	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:98411291G>A	ENST00000339364.5	-	5	949	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A99V	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	277	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CACAGGATTCGCGGCATTGGA	0.398																																						uc001kmq.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(829-831)gCg>gTg		Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.							97	95	96					10																	98411291		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411291G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.830C>T	10.37:g.98411291G>A	ENSP00000339826:p.Ala277Val					PIK3AP1_uc001kmp.3_Missense_Mutation_p.A99V	p.A277V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	4	958	-		Colorectal(252;0.0442)	277			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.830C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345449	0.82022	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.19105	2.81;2.17	5.77	5.77	0.91146	DBB domain (1);	0.102760	0.64402	D	0.000003	T	0.26085	0.0636	L	0.50333	1.59	0.80722	D	1	D	0.55800	0.973	B	0.43950	0.437	T	0.00844	-1.1543	10	0.30854	T	0.27	-18.6805	18.9701	0.92711	0.0:0.0:1.0:0.0	.	277	Q6ZUJ8	BCAP_HUMAN	V	277;99	ENSP00000339826:A277V;ENSP00000360151:A99V	ENSP00000339826:A277V	A	-	2	0	PIK3AP1	98401281	0.992000	0.36948	0.991000	0.47740	0.851000	0.48451	4.335000	0.59298	2.737000	0.93849	0.561000	0.74099	GCG		0.398	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		A	98411291	G	A	98411291	3	1	206	1	0	0	0	0	1	0	0	0	11908	1087	38	1	1639	1	PIK3AP1	10	98411291	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	8718282	98411291	37123456	44	14429											
CNGA4	1262	broad.mit.edu	37	chr11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaccgctttctccgcgCgccccgcctcttcgaggcct	3	9	10	19	6	2	1	0	1	2	0	4	2	2	1	6	1	1	2	6	1	1	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587																																						uc001mco.3																			1	Substitution - Missense(1)	p.A147V(2)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(439-441)gCg>gTg		Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.							79	86	84					11																	6261464		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261464C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.440C>T	11.37:g.6261464C>T	ENSP00000369268:p.Ala147Val					CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.A107V	p.A147V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	555	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	147						Missense_Mutation	SNP	ENST00000379936.2	37	c.440C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	1.015	-0.686802	0.03328	.	.	ENSG00000132259	ENST00000379936	D	0.97404	-4.37	5.26	-5.43	0.02632	Ion transport (1);	0.589948	0.18900	N	0.128064	D	0.86760	0.6010	N	0.01668	-0.77	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.74450	-0.3661	10	0.22109	T	0.4	.	14.3643	0.66795	0.0:0.5734:0.0:0.4266	.	147;107	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	V	147	ENSP00000369268:A147V	ENSP00000369268:A147V	A	+	2	0	CNGA4	6218040	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.473000	0.06615	-1.108000	0.03000	-0.794000	0.03295	GCG		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		T	6261464	C	T	6261464	3	4	206	1	0	0	0	0	1	0	0	0	3599	768	27	1	454	1	CNGA4	11	6261464	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		6261464	128745052	45	14430											
OR5D14	219436	broad.mit.edu	37	chr11	55563770	55563770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacctgggcctcccacCtgacttctatcaccatcttc	6	12	4	19	0	4	1	1	1	3	0	7	1	5	1	6	1	0	0	6	1	1	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:55563770C>A	ENST00000335605.1	+	1	739	c.739C>A	c.(739-741)Ctg>Atg	p.L247M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCTCCCACCTGACTTCTAT	0.453																																						uc010rim.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(739-741)Ctg>Atg		Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.							109	102	104					11																	55563770		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563770C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.739C>A	11.37:g.55563770C>A	ENSP00000334456:p.Leu247Met						p.L247M	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			0	739	+		all_epithelial(135;0.196)	247					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.739C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.874888	0.33069	.	.	ENSG00000186113	ENST00000335605	T	0.50001	0.76	5.08	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34025	N	0.004322	T	0.61160	0.2325	M	0.85373	2.75	0.31330	N	0.684999	D	0.64830	0.994	P	0.59357	0.856	T	0.64313	-0.6437	10	0.46703	T	0.11	-11.1747	4.3249	0.11036	0.3202:0.5111:0.0:0.1687	.	247	Q8NGL3	OR5DE_HUMAN	M	247	ENSP00000334456:L247M	ENSP00000334456:L247M	L	+	1	2	OR5D14	55320346	0.462000	0.25791	0.999000	0.59377	0.429000	0.31625	0.358000	0.20216	0.538000	0.28769	0.643000	0.83706	CTG		0.453	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		A	55563770	C	A	55563770	3	1	206	1	0	0	0	0	1	0	0	0	11155	680	24	5	741	5	OR5D14	11	55563770	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	49302306	55563770	79442746	46	14431											
DDI1	414301	broad.mit.edu	37	chr11	103908142	103908142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagagagcaagagaggCttcgtctctacacagccgac	11	7	11	12	2	1	3	0	1	1	2	3	6	1	3	2	1	3	2	2	1	2	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:103908142C>G	ENST00000302259.3	+	1	835	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	198							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAAGAGAGGCTTCGTCTCTA	0.522																																						uc001phr.2																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(592-594)Ctt>Gtt		Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.							64	70	68					11																	103908142		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908142C>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.592C>G	11.37:g.103908142C>G	ENSP00000302805:p.Leu198Val					PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	p.L198V	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	0	835	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	198					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.592C>G	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	4.929	0.172596	0.09391	.	.	ENSG00000170967	ENST00000302259	T	0.25414	1.8	5.02	-0.319	0.12725	.	0.232984	0.41938	D	0.000797	T	0.23492	0.0568	M	0.74881	2.28	0.23594	N	0.997332	B	0.12630	0.006	B	0.14023	0.01	T	0.19516	-1.0303	10	0.48119	T	0.1	-38.7328	5.1869	0.15189	0.5643:0.2664:0.0:0.1693	.	198	Q8WTU0	DDI1_HUMAN	V	198	ENSP00000302805:L198V	ENSP00000302805:L198V	L	+	1	0	DDI1	103413352	1.000000	0.71417	0.059000	0.19551	0.026000	0.11368	1.527000	0.35975	0.071000	0.16664	-0.169000	0.13324	CTT		0.522	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		G	103908142	C	G	103908142	3	3	206	1	0	0	0	0	1	0	0	0	4328	797	28	5	594	5	DDI1	11	103908142	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	48344372	103908142	31098374	47	14432											
OR8A1	390275	broad.mit.edu	37	chr11	124440263	124440263	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacccctaagatgctggTgaactttgtgtcagagaaaa	13	11	9	8	0	1	3	1	1	0	2	1	4	1	3	2	1	3	1	2	1	5	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:124440263T>A	ENST00000284287.3	+	1	371	c.299T>A	c.(298-300)gTg>gAg	p.V100E		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	100					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAGATGCTGGTGAACTTTGTG	0.463																																						uc010san.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(298-300)gTg>gAg		Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.							184	167	173					11																	124440263		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440263T>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.299T>A	11.37:g.124440263T>A	ENSP00000284287:p.Val100Glu						p.V100E	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	0	299	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	100					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.299T>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968694	0.53614	.	.	ENSG00000196119	ENST00000284287	T	0.00008	9.62	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.568919	0.14494	N	0.316178	T	0.00109	0.0003	L	0.48218	1.51	0.30426	N	0.777688	B	0.17667	0.023	B	0.21151	0.033	T	0.03335	-1.1047	10	0.52906	T	0.07	.	10.1357	0.42706	0.0:0.0803:0.0:0.9197	.	100	Q8NGG7	OR8A1_HUMAN	E	100	ENSP00000284287:V100E	ENSP00000284287:V100E	V	+	2	0	OR8A1	123945473	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.089000	0.11180	2.098000	0.63641	0.528000	0.53228	GTG		0.463	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		A	124440263	T	A	124440263	3	1	206	1	0	0	0	0	1	0	0	0	11225	1696	59	5	301	5	OR8A1	11	124440263	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	20532121	124440263	10566253	48	14433											
ANKRD33	341405	broad.mit.edu	37	chr12	52284606	52284606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctgcaggctaccttgagCctcccctttgccccgtctcc	3	10	9	19	2	1	1	0	1	1	0	3	1	2	1	7	2	4	3	7	2	1	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:52284606C>A	ENST00000340970.4	+	5	872	c.501C>A	c.(499-501)agC>agA	p.S167R	ANKRD33_ENST00000538991.1_Missense_Mutation_p.S98R|ANKRD33_ENST00000301190.6_Missense_Mutation_p.S292R|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	167					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTACCTTGAGCCTCCCCTTTG	0.667																																						uc001rzd.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(874-876)agC>agA		Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.							32	28	29					12																	52284606		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52284606C>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.501C>A	12.37:g.52284606C>A	ENSP00000344690:p.Ser167Arg					ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S167R|ANKRD33_uc001rze.3_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.4_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.4_Missense_Mutation_p.S167R	p.S292R	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	4	1054	+			167					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.876C>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496951	0.12762	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.23754	2.05;1.89;2.36	4.7	-1.62	0.08372	.	0.910524	0.09437	N	0.802324	T	0.27765	0.0683	L	0.58101	1.795	0.09310	N	1	P;D;B	0.55172	0.868;0.97;0.037	B;P;B	0.48704	0.383;0.587;0.027	T	0.20174	-1.0283	10	0.37606	T	0.19	-6.9485	5.8093	0.18457	0.0:0.3462:0.1433:0.5105	.	167;98;292	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	R	292;98;167	ENSP00000301190:S292R;ENSP00000443722:S98R;ENSP00000344690:S167R	ENSP00000301190:S292R	S	+	3	2	ANKRD33	50570873	0.000000	0.05858	0.002000	0.10522	0.217000	0.24651	-0.338000	0.07842	-0.432000	0.07297	-1.010000	0.02471	AGC		0.667	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		A	52284606	C	A	52284606	3	1	206	1	0	0	0	0	1	0	0	0	661	738	26	5	924	5	ANKRD33	12	52284606	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		52284606	81567289	49	14434											
OR6C3	254786	broad.mit.edu	37	chr12	55726370	55726370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaaccagcaagtaaaaCaagccttcaaaaatgtggtc	18	7	8	8	0	1	1	1	1	0	1	2	2	1	1	2	1	4	2	2	1	7	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:55726370C>A	ENST00000379667.1	+	1	886	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAGTAAAACAAGCCTTCAA	0.338																																						uc010spj.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(886-888)Caa>Aaa		Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.							55	57	56					12																	55726370		2200	4299	6499	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726370C>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.886C>A	12.37:g.55726370C>A	ENSP00000368989:p.Gln296Lys						p.Q296K	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			0	886	+			296						Missense_Mutation	SNP	ENST00000379667.1	37	c.886C>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291825	0.23564	.	.	ENSG00000205329	ENST00000379667	T	0.00235	8.48	5.13	3.26	0.37387	.	0.144833	0.31797	N	0.007041	T	0.00073	0.0002	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.22836	-1.0205	10	0.45353	T	0.12	.	5.3079	0.15813	0.2881:0.5603:0.0:0.1516	.	296	Q9NZP0	OR6C3_HUMAN	K	296	ENSP00000368989:Q296K	ENSP00000368989:Q296K	Q	+	1	0	OR6C3	54012637	0.000000	0.05858	0.964000	0.40570	0.738000	0.42128	-0.402000	0.07223	0.818000	0.34468	0.650000	0.86243	CAA		0.338	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			A	55726370	C	A	55726370	3	1	206	1	0	0	0	0	1	0	0	0	11192	479	17	5	888	5	OR6C3	12	55726370	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	3441764	55726370	78125525	50	14435											
PTPRB	5787	broad.mit.edu	37	chr12	70933755	70933755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaagtggacagataatggtCgatccctacgaatgctcaga	13	10	10	8	2	1	2	1	0	0	2	3	5	2	3	1	2	2	1	1	2	4	3	rs139546127		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:70933755C>T	ENST00000261266.5	-	22	5017	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1573Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1573Q|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1881Q|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1793Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1573Q|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1663					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATAATGGTCGATCCCTACG	0.413													C|||	1	0.000199681	0	0	5008	,	,		19691	0.001		0	False		,,,				2504	0					uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4987-4989)cGa>cAa		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							88	83	85					12																	70933755		1898	4110	6008	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70933755C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4988G>A	12.37:g.70933755C>T	ENSP00000261266:p.Arg1663Gln					PTPRB_uc010sto.2_Missense_Mutation_p.R1573Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1573Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1881Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1793Q	p.R1663Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		21	5018	-	Renal(347;0.236)		1663					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4988G>A	CCDS44944.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.64	2.892721	0.52121	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.02812	4.17;4.17;4.15;4.23;4.17;4.22	5.42	4.53	0.55603	.	0.399680	0.26601	N	0.023461	T	0.06325	0.0163	L	0.51422	1.61	0.22342	N	0.999185	D;D;D;D;D	0.67145	0.978;0.978;0.996;0.979;0.992	P;P;P;B;P	0.53722	0.61;0.61;0.733;0.325;0.733	T	0.33828	-0.9853	10	0.17369	T	0.5	.	11.9642	0.53025	0.0:0.8555:0.0:0.1445	.	1573;1573;1881;1663;1793	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Q	1881;1573;1793;1573;1573;1663	ENSP00000334928:R1881Q;ENSP00000393028:R1573Q;ENSP00000448058:R1793Q;ENSP00000438927:R1573Q;ENSP00000447302:R1573Q;ENSP00000261266:R1663Q	ENSP00000261266:R1663Q	R	-	2	0	PTPRB	69220022	1.000000	0.71417	0.236000	0.24074	0.970000	0.65996	3.944000	0.56629	1.288000	0.44600	0.462000	0.41574	CGA		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			T	70933755	C	T	70933755	3	4	206	1	0	0	0	0	1	0	0	0	12796	884	31	2	1049	2	PTPRB	12	70933755	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	15207385	70933755	62918140	51	14436											
PTPRR	5801	broad.mit.edu	37	chr12	71286587	71286587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattgacaatctggtggcGtttgcttacttgagcttcgg	7	15	12	7	2	1	3	0	3	1	0	2	3	1	3	0	3	3	3	0	3	3	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:71286587G>A	ENST00000283228.2	-	2	681	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCTGGTGGCGTTTGCTTACT	0.448																																						uc001swi.2																			0		p.R77H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(229-231)Cgc>Tgc		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.							242	242	242					12																	71286587		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286587G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.229C>T	12.37:g.71286587G>A	ENSP00000283228:p.Arg77Cys						p.R77C	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	1	643	-			77					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.229C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	7.526	0.657646	0.14645	.	.	ENSG00000153233	ENST00000283228	T	0.03553	3.89	5.86	0.281	0.15687	.	2.014910	0.03203	U	0.175101	T	0.02304	0.0071	N	0.08118	0	0.24558	N	0.993987	B	0.32893	0.389	B	0.29942	0.109	T	0.37033	-0.9723	10	0.44086	T	0.13	0.2152	3.8481	0.08943	0.1156:0.1019:0.368:0.4145	.	77	Q15256	PTPRR_HUMAN	C	77	ENSP00000283228:R77C	ENSP00000283228:R77C	R	-	1	0	PTPRR	69572854	0.682000	0.27624	0.132000	0.22025	0.102000	0.19082	0.863000	0.27913	0.311000	0.23014	0.650000	0.86243	CGC		0.448	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		A	71286587	G	A	71286587	3	1	206	1	0	0	0	0	1	0	0	0	12810	1145	40	1	1796	1	PTPRR	12	71286587	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	352832	71286587	62565308	52	14437											
C12orf63	144535	broad.mit.edu	37	chr12	97073486	97073486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccataacagatcaatccGacacagcagaaagttgcttt	16	9	6	10	1	1	2	1	0	0	2	2	3	2	2	2	0	4	3	2	0	4	4	rs367592020		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:97073486G>A	ENST00000524981.4	+	40	5695	c.5672G>A	c.(5671-5673)cGa>cAa	p.R1891Q				Q96N23	CL055_HUMAN		0																	AGATCAATCCGACACAGCAGA	0.453																																						uc021rcc.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(946-948)cGa>cAa		RecName: Full=Putative uncharacterized protein C12orf63;		G	GLN/ARG	0,4406		0,0,2203	162	155	157		5180	5.3	1	12		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf55	XM_001715090.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1727/1907	97073486	1,13005	2203	4300	6503	SO:0001583	missense	374467							g.chr12:97073486G>A																												ENST00000524981.4:c.5672G>A	12.37:g.97073486G>A	ENSP00000431759:p.Arg1891Gln						p.R316Q			Q6ZTY8	CL063_HUMAN			6	1025	+			316						Missense_Mutation	SNP	ENST00000524981.4	37	c.947G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.715697	0.30413	0.0	1.16E-4	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.27	5.27	0.74061	.	0.274308	0.28635	N	0.014656	T	0.57710	0.2072	L	0.50333	1.59	0.31766	N	0.632707	D	0.89917	1.0	D	0.69479	0.964	T	0.60551	-0.7241	9	0.27785	T	0.31	-5.6225	10.4741	0.44655	0.1246:0.0:0.8754:0.0	.	316	Q6ZTY8	CL063_HUMAN	Q	1891;316	.	ENSP00000345466:R316Q	R	+	2	0	C12orf63	95597617	1.000000	0.71417	0.997000	0.53966	0.358000	0.29455	2.617000	0.46385	2.437000	0.82529	0.655000	0.94253	CGA		0.453	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			A	97073486	G	A	97073486	3	1	206	1	0	0	0	0	1	0	0	0	1706	1058	37	2	969	2	C12orf63	12	97073486	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	25786899	97073486	36778409	53	14438											
OASL	8638	broad.mit.edu	37	chr12	121465457	121465457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacttggtccagtagataCagatgacttcatactccagg	12	11	9	9	0	1	3	1	1	0	2	3	3	3	3	2	2	3	2	2	2	4	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:121465457C>G	ENST00000257570.5	-	4	1091	c.821G>C	c.(820-822)tGt>tCt	p.C274S	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	274					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGTAGATACAGATGACTTC	0.453																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(820-822)tGt>tCt		Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.							181	152	162					12																	121465457		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121465457C>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.821G>C	12.37:g.121465457C>G	ENSP00000257570:p.Cys274Ser					OASL_uc001tzk.1_Intron	p.C274S	NM_003733	NP_003724	Q15646	OASL_HUMAN			3	827	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		274					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.821G>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559252	0.65538	.	.	ENSG00000135114	ENST00000257570	T	0.45276	0.9	5.65	5.65	0.86999	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.64402	D	0.000007	T	0.70675	0.3251	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75528	-0.3286	10	0.72032	D	0.01	-0.0351	15.093	0.72211	0.0:1.0:0.0:0.0	.	274	Q15646	OASL_HUMAN	S	274	ENSP00000257570:C274S	ENSP00000257570:C274S	C	-	2	0	OASL	119949840	1.000000	0.71417	0.997000	0.53966	0.578000	0.36192	4.399000	0.59703	2.941000	0.99782	0.655000	0.94253	TGT		0.453	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		G	121465457	C	G	121465457	3	3	206	1	0	0	0	0	1	0	0	0	10802	478	17	5	735	5	OASL	12	121465457	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	24391971	121465457	12386438	54	14439											
EP400	57634	broad.mit.edu	37	chr12	132512816	132512816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggtgtggagagtctctGcaggatgttattgacaggta	8	13	15	5	1	1	2	0	1	1	1	3	4	1	3	0	4	1	3	0	4	2	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:132512816G>A	ENST00000333577.4	+	28	5581	c.5472G>A	c.(5470-5472)ctG>ctA	p.L1824L	EP400_ENST00000389562.2_Silent_p.L1787L|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Silent_p.L1751L|EP400_ENST00000389561.2_Silent_p.L1788L|EP400_ENST00000330386.6_Silent_p.L1707L			Q96L91	EP400_HUMAN	E1A binding protein p400	1824					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGAGTCTCTGCAGGATGTTA	0.557																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5362-5364)ctG>ctA		Homo sapiens E1A binding protein p400 (EP400), mRNA.							180	155	163					12																	132512816		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132512816G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5472G>A	12.37:g.132512816G>A						EP400_uc021rgq.1_Silent_p.L1787L|EP400_uc001ujm.3_Silent_p.L1707L	p.L1788L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	26	5516	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1824					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.5364G>A																																																																																					0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132512816	G	A	132512816	2	1	206	1	0	0	0	0	0	0	0	1	5149	1306	46	3		3	EP400	12	132512816	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	11047359	132512816	1339079	55	14440											
KCNK10	54207	broad.mit.edu	37	chr14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccggccccttcaggcGcaggttgttgggccggttgt	2	11	15	13	3	1	0	1	0	0	0	2	0	2	0	4	5	1	5	4	5	0	4	rs373732858		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C|KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607																																						uc001xwm.3																			0		p.P428P(1)|p.P428T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1285-1287)Cgc>Tgc		Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	66	69	68		1270,1285,1285	5.7	1	14		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	180,180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	424/539,429/544,429/544	88652226	2,13004	2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652226G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1270C>T	14.37:g.88652226G>A	ENSP00000343104:p.Arg424Cys					KCNK10_uc001xwn.3_Missense_Mutation_p.R429C|KCNK10_uc001xwo.3_Missense_Mutation_p.R424C	p.R429C	NM_138318	NP_612191	P57789	KCNKA_HUMAN			6	1407	-			424					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1285C>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106321	0.56291	0.0	2.33E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92965	-3.13;-3.13;-3.14	5.71	5.71	0.89125	.	0.225317	0.42294	D	0.000726	D	0.92443	0.7601	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60609	0.828;0.818;0.877	D	0.91415	0.5154	10	0.39692	T	0.17	.	13.7785	0.63069	0.0:0.0:0.8468:0.1532	.	424;429;429	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	C	424;429;429	ENSP00000343104:R424C;ENSP00000310568:R429C;ENSP00000312811:R429C	ENSP00000310568:R429C	R	-	1	0	KCNK10	87721979	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.823000	0.69272	2.709000	0.92574	0.655000	0.94253	CGC		0.607	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		A	88652226	G	A	88652226	3	1	206	1	0	0	0	0	1	0	0	0	8059	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		88652226	18697314	56	14441											
MTMR15	22909	broad.mit.edu	37	chr15	31197005	31197005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacttgcctgccccgttTgcagtaaaatggtgcctaga	10	11	9	11	1	0	1	0	0	0	1	0	1	0	1	4	1	5	3	4	1	5	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr15:31197005T>C	ENST00000362065.4	+	2	430	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	FAN1_ENST00000561594.1_Missense_Mutation_p.C47R|FAN1_ENST00000565466.1_Missense_Mutation_p.C47R|FAN1_ENST00000561607.1_Missense_Mutation_p.C47R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	47					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTGCCCCGTTTGCAGTAAAAT	0.403								Direct reversal of damage																														uc001zff.3																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(139-141)Tgc>Cgc	Direct reversal of damage	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.							74	75	75					15																	31197005		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197005T>C		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.139T>C	15.37:g.31197005T>C	ENSP00000354497:p.Cys47Arg					FAN1_uc001zfc.3_Missense_Mutation_p.C47R|FAN1_uc010azw.2_Missense_Mutation_p.C47R|FAN1_uc001zfd.3_Missense_Mutation_p.C47R|FAN1_uc001zfe.3_5'UTR	p.C47R	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN			1	430	+			47					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.139T>C	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	t	19.64	3.865984	0.71949	.	.	ENSG00000198690	ENST00000362065	D	0.96651	-4.08	5.01	5.01	0.66863	Zinc finger, Rad18-type putative (1);	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98588	1.0653	10	0.87932	D	0	-17.7957	15.0172	0.71594	0.0:0.0:0.0:1.0	.	47;47	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	R	47	ENSP00000354497:C47R	ENSP00000354497:C47R	C	+	1	0	FAN1	28984297	1.000000	0.71417	0.090000	0.20809	0.904000	0.53231	7.168000	0.77570	2.007000	0.58848	0.374000	0.22700	TGC		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		C	31197005	T	C	31197005	3	2	206	1	0	0	0	0	1	0	0	0	9943	1812	63	4	141	4	MTMR15	15	31197005	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08		31197005	71334387	57	14442											
AXIN1	8312	broad.mit.edu	37	chr16	339599	339599	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcccaccttcctctgcGatcttgtcctggggaaagag	6	9	11	15	3	2	1	0	0	2	1	4	3	4	2	5	2	1	0	5	2	1	2	rs138816818		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:339599G>T	ENST00000262320.3	-	10	2674	c.2303C>A	c.(2302-2304)tCg>tAg	p.S768*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.S732*	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	768	Interaction with PPP2CA.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTTCCTCTGCGATCTTGTCCT	0.637																																						uc002cgp.2																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2302-2304)tCg>tAg		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							43	41	42					16																	339599		2198	4299	6497	SO:0001587	stop_gained	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339599G>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2303C>A	16.37:g.339599G>T	ENSP00000262320:p.Ser768*					LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Nonsense_Mutation_p.S732*	p.S768*	NM_003502	NP_003493	O15169	AXIN1_HUMAN			9	2692	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	768			Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Nonsense_Mutation	SNP	ENST00000262320.3	37	c.2303C>A	CCDS10405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.68|13.68	2.309069|2.309069	0.40895|0.40895	.|.	.|.	ENSG00000103126|ENSG00000103126	ENST00000457798|ENST00000262320;ENST00000354866	.|.	.|.	.|.	4.44|4.44	3.36|3.36	0.38483|0.38483	.|.	.|0.847287	.|0.09926	.|N	.|0.737793	T|.	0.21468|.	0.0517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12400|.	-1.0549|.	3|.	.|0.06099	.|T	.|0.92	-6.3294|-6.3294	9.9193|9.9193	0.41455|0.41455	0.1476:0.0:0.8524:0.0|0.1476:0.0:0.8524:0.0	.|.	.|.	.|.	.|.	S|X	20|768;732	.|.	.|ENSP00000262320:S768X	R|S	-|-	1|2	0|0	AXIN1|AXIN1	279600|279600	0.875000|0.875000	0.30112|0.30112	0.004000|0.004000	0.12327|0.12327	0.003000|0.003000	0.03518|0.03518	2.639000|2.639000	0.46570|0.46570	2.042000|2.042000	0.60477|0.60477	0.313000|0.313000	0.20887|0.20887	CGC|TCG		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			T	339599	G	T	339599	4	4	206	1	0	0	0	0	0	1	0	0	1236	1059	37	5	293	5	AXIN1	16	339599	Nonsense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		339599	90015154	58	14443											
ATF7IP2	80063	broad.mit.edu	37	chr16	10534246	10534246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagcaaaacttcaaagacGtattaaaacagtattattat	20	12	4	5	1	1	1	1	0	0	1	1	1	1	1	0	0	3	3	0	0	11	7	rs141687995		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:10534246G>A	ENST00000396560.2	+	6	1348	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R374H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R374H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R374H|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CTTCAAAGACGTATTAAAACA	0.289																																						uc002czw.3																			0				large_intestine(3)	3						c.(1120-1122)cGt>cAt		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.		G	HIS/ARG	0,4380		0,0,2190	37	40	39		1121	4.4	1	16	dbSNP_134	39	1,8579	1.2+/-3.3	0,1,4289	no	missense	ATF7IP2	NM_024997.2	29	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	374/683	10534246	1,12959	2190	4290	6480	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10534246G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1121G>A	16.37:g.10534246G>A	ENSP00000379808:p.Arg374His					ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R374H|ATF7IP2_uc002czv.3_Missense_Mutation_p.R374H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.R374H	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			4	1280	+			374					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1121G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430823	0.43122	0.0	1.17E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.42	4.42	0.53409	.	0.000000	0.50627	D	0.000118	T	0.59238	0.2179	L	0.59436	1.845	0.39149	D	0.962188	D;P	0.89917	1.0;0.789	D;B	0.87578	0.998;0.08	T	0.65207	-0.6224	10	0.87932	D	0	-0.0287	12.859	0.57903	0.0:0.0:1.0:0.0	.	374;374	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	374	ENSP00000379807:R374H;ENSP00000379808:R374H;ENSP00000440791:R374H;ENSP00000348799:R374H;ENSP00000322811:R374H	ENSP00000322811:R374H	R	+	2	0	ATF7IP2	10441747	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	2.211000	0.42825	2.161000	0.67846	0.591000	0.81541	CGT		0.289	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		A	10534246	G	A	10534246	3	1	206	1	0	0	0	0	1	0	0	0	1088	1145	40	1	1135	1	ATF7IP2	16	10534246	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	10194647	10534246	79820507	59	14444											
ACSM5	54988	broad.mit.edu	37	chr16	20442617	20442617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgtatcagacccactcggCccttctgtttcttcaattgc	6	14	6	15	2	4	1	2	0	2	1	6	1	5	1	3	1	1	2	3	1	2	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:20442617C>T	ENST00000331849.4	+	10	1429	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	428					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCCACTCGGCCCTTCTGTTT	0.488																																						uc002dhe.3																			0		p.R427Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1282-1284)Ccc>Tcc		Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.							164	140	148					16																	20442617		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442617C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1282C>T	16.37:g.20442617C>T	ENSP00000327916:p.Pro428Ser						p.P428S	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			9	1429	+			428					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1282C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452354	0.84209	.	.	ENSG00000183549	ENST00000331849	T	0.50813	0.73	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000068	T	0.63861	0.2547	L	0.55990	1.75	0.47476	D	0.999431	D	0.67145	0.996	D	0.74674	0.984	T	0.68454	-0.5404	10	0.87932	D	0	-16.2449	16.0686	0.80907	0.0:1.0:0.0:0.0	.	428	Q6NUN0	ACSM5_HUMAN	S	428	ENSP00000327916:P428S	ENSP00000327916:P428S	P	+	1	0	ACSM5	20350118	1.000000	0.71417	0.924000	0.36721	0.984000	0.73092	5.853000	0.69496	2.119000	0.64992	0.650000	0.86243	CCC		0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		T	20442617	C	T	20442617	3	4	206	1	0	0	0	0	1	0	0	0	187	739	26	3	1316	3	ACSM5	16	20442617	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	9908371	20442617	69912136	60	14445											
ITGAM	3684	broad.mit.edu	37	chr16	31308873	31308873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccctctgctccgtggaCgtggacagcaacggcagcac	7	6	12	16	3	1	0	0	0	1	0	3	2	3	2	3	3	4	4	3	3	1	0	rs377110507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:31308873C>T	ENST00000287497.8	+	13	1470	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	ITGAM_ENST00000544665.3_Silent_p.D465D			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	465					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTCCGTGGACGTGGACAGCA	0.627																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1393-1395)gaC>gaT		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.		C	,	0,4384		0,0,2192	108	118	115		1395,1395	-5.2	0	16		115	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6489	TT,TC,CC		0.0116,0.0,0.0077	,	465/1153,465/1154	31308873	1,12979	2192	4298	6490	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308873C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1395C>T	16.37:g.31308873C>T						ITGAM_uc002ebq.3_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.3_5'UTR	p.D465D	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			12	1493	+			465					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1395C>T	CCDS45470.1																																																																																				0.627	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31308873	C	T	31308873	2	4	206	1	0	0	0	0	0	0	0	1	7887	535	19	1		1	ITGAM	16	31308873	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	10866256	31308873	59045880	61	14446											
ZFHX3	463	broad.mit.edu	37	chr16	72821854	72821854	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctttctgcttctggctCttcagggagtttcggcagga	4	16	12	9	1	4	0	1	0	3	0	5	2	4	2	0	4	2	5	0	4	0	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:72821854C>A	ENST00000268489.5	-	10	10993	c.10321G>T	c.(10321-10323)Gag>Tag	p.E3441*	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2527*|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3441					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTTCTGGCTCTTCAGGGAGT	0.557																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10321-10323)Gag>Tag		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							77	83	81					16																	72821854		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821854C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10321G>T	16.37:g.72821854C>A	ENSP00000268489:p.Glu3441*					ZFHX3_uc002fcl.3_Nonsense_Mutation_p.E2527*	p.E3441*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	10994	-		Ovarian(137;0.13)	3441					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.10321G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	54	21.768745	0.99943	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	4.3	4.3	0.51218	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.9607	0.58455	0.0:0.8371:0.1629:0.0	.	.	.	.	X	3441;2527	.	ENSP00000268489:E3441X	E	-	1	0	ZFHX3	71379355	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.988000	0.40697	2.115000	0.64714	0.557000	0.71058	GAG		0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72821854	C	A	72821854	4	1	206	1	0	0	0	0	0	1	0	0	17631	922	32	5	794	5	ZFHX3	16	72821854	Nonsense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	41512981	72821854	17532899	62	14447											
MYH1	4619	broad.mit.edu	37	chr17	10399320	10399320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaggagctcctgttctgCgattttcctgctcctctctg	4	15	8	14	1	2	0	0	0	2	0	7	2	6	1	4	1	3	3	4	1	0	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10399320C>T	ENST00000226207.5	-	35	5210	c.5116G>A	c.(5116-5118)Gca>Aca	p.A1706T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1706					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGTTCTGCGATTTTCCTG	0.532																																						uc002gmo.3																			0		p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5116-5118)Gca>Aca		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							101	92	95					17																	10399320		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399320C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5116G>A	17.37:g.10399320C>T	ENSP00000226207:p.Ala1706Thr					AK097500_uc002gml.1_Intron	p.A1706T	NM_005963	NP_005954	P12882	MYH1_HUMAN			34	5210	-			1706					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5116G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.930019	0.92389	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	D	0.89167	0.6638	M	0.93594	3.435	0.58432	D	0.999999	P	0.47910	0.902	B	0.42827	0.399	D	0.91784	0.5438	10	0.66056	D	0.02	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	1706	P12882	MYH1_HUMAN	T	1706	ENSP00000226207:A1706T	ENSP00000226207:A1706T	A	-	1	0	MYH1	10340045	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	7.643000	0.83403	2.758000	0.94735	0.655000	0.94253	GCA		0.532	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10399320	C	T	10399320	3	4	206	1	0	0	0	0	1	0	0	0	10029	768	27	1	727	1	MYH1	17	10399320	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		10399320	70795890	63	14448											
MYH2	4620	broad.mit.edu	37	chr17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcctcctggctccGgagagcatcatccaggtgga	7	9	12	13	1	2	1	2	0	0	1	6	3	6	2	4	5	1	2	4	5	0	1	rs569489518		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10427956G>A	ENST00000245503.5	-	35	5386	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1668W|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1668					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGGCTCCGGAGAGCATCA	0.572													g|||	1	0.000199681	0	0	5008	,	,		19739	0		0.001	False		,,,				2504	0					uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5002-5004)Cgg>Tgg		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							92	82	85					17																	10427956		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427956G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5002C>T	17.37:g.10427956G>A	ENSP00000245503:p.Arg1668Trp					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1668W|MYH2_uc010coj.3_Intron	p.R1668W	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			34	5130	-			1668					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5002C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472724	0.43942	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82526	-1.62;-1.62	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.37483	U	0.002071	D	0.93933	0.8058	H	0.97415	4	0.49483	D	0.999795	D	0.76494	0.999	D	0.76575	0.988	D	0.95210	0.8324	10	0.87932	D	0	.	13.282	0.60222	0.0:0.0:0.7467:0.2533	.	1668	Q9UKX2	MYH2_HUMAN	W	1668	ENSP00000245503:R1668W;ENSP00000380367:R1668W	ENSP00000245503:R1668W	R	-	1	2	MYH2	10368681	0.181000	0.23161	1.000000	0.80357	0.402000	0.30811	0.546000	0.23284	2.755000	0.94549	0.491000	0.48974	CGG		0.572	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10427956	G	A	10427956	3	1	206	1	0	0	0	0	1	0	0	0	10035	1115	39	2	847	2	MYH2	17	10427956	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	28636	10427956	70767254	64	14449											
ACACA	31	broad.mit.edu	37	chr17	35615262	35615262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccatacatcatacggatatCcttgattctatatagaggaa	14	12	6	9	1	2	2	1	1	1	1	3	4	3	4	2	2	2	0	2	2	7	8			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:35615262C>G	ENST00000394406.2	-	13	1613	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H	ACACA_ENST00000353139.5_Missense_Mutation_p.D512H|ACACA_ENST00000335166.5_Missense_Mutation_p.D397H|ACACA_ENST00000360679.3_Missense_Mutation_p.D417H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	475	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACGGATATCCTTGATTCTA	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1423-1425)Gat>Cat		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						78	76	77					17																	35615262		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35615262C>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1423G>C	17.37:g.35615262C>G	ENSP00000377928:p.Asp475His					ACACA_uc002hnk.3_Missense_Mutation_p.D397H|ACACA_uc002hnl.3_Missense_Mutation_p.D417H|ACACA_uc002hnn.3_Missense_Mutation_p.D475H|ACACA_uc002hno.3_Missense_Mutation_p.D512H|ACACA_uc010cuz.3_Missense_Mutation_p.D475H	p.D475H	NM_198836	NP_942135	Q13085	ACACA_HUMAN			12	1614	-		Breast(25;0.00157)|Ovarian(249;0.15)	475			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1423G>C	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093702	0.94149	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.93	5.93	0.95920	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.986	D;P;P	0.85130	0.997;0.65;0.856	D	0.99116	1.0848	10	0.54805	T	0.06	-20.5518	19.3421	0.94347	0.0:1.0:0.0:0.0	.	512;475;417	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	512;417;475;499;397	ENSP00000344789:D512H;ENSP00000353898:D417H;ENSP00000377928:D475H;ENSP00000335323:D397H	ENSP00000335323:D397H	D	-	1	0	ACACA	32689375	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAT		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		G	35615262	C	G	35615262	3	3	206	1	0	0	0	0	1	0	0	0	106	855	30	5	5793	5	ACACA	17	35615262	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	25187306	35615262	45579948	65	14450											
MKS1	54903	broad.mit.edu	37	chr17	56294074	56294074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcacaatctcctcctcttCgtcttcctctgggcggtgtc	5	14	7	15	2	5	0	1	0	4	0	10	0	7	0	3	2	0	0	3	2	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:56294074C>T	ENST00000393119.2	-	3	288	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.E72K|MKS1_ENST00000313863.6_Missense_Mutation_p.E72K|MKS1_ENST00000537529.2_Missense_Mutation_p.E62K|LPO_ENST00000582328.1_5'Flank	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	72					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCCTCTTCGTCTTCCTCT	0.483																																						uc002ivr.2																			0		p.D71V(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(214-216)Gaa>Aaa		Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.							138	143	141					17																	56294074		1977	4152	6129	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56294074C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.214G>A	17.37:g.56294074C>T	ENSP00000376827:p.Glu72Lys					MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.E62K	p.E72K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			2	289	-			72					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.214G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100415	0.56183	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050	T;T;T;T	0.65732	-0.17;1.41;-0.17;-0.17	5.41	5.41	0.78517	.	0.155915	0.42172	U	0.000754	T	0.47637	0.1456	L	0.41824	1.3	0.80722	D	1	P;P	0.45428	0.72;0.858	B;B	0.30179	0.112;0.07	T	0.54443	-0.8293	10	0.45353	T	0.12	-20.4755	14.5656	0.68173	0.0:1.0:0.0:0.0	.	72;72	A8MPP8;Q9NXB0	.;MKS1_HUMAN	K	62;72;72;72	ENSP00000442096:E62K;ENSP00000376828:E72K;ENSP00000376827:E72K;ENSP00000338407:E72K	ENSP00000338407:E72K	E	-	1	0	MKS1	53649073	0.846000	0.29590	1.000000	0.80357	0.990000	0.78478	1.175000	0.31944	2.824000	0.97209	0.643000	0.83706	GAA		0.483	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56294074	C	T	56294074	3	4	206	1	0	0	0	0	1	0	0	0	9609	893	31	2	1529	2	MKS1	17	56294074	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	20678812	56294074	24901136	66	14451											
CDR2L	30850	broad.mit.edu	37	chr17	73000053	73000053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggaggccgtggacaagCggctggaacagagccagccc	10	3	16	12	3	0	1	0	0	0	1	0	4	0	4	3	5	4	1	3	5	2	0	rs144796205	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73000053C>T	ENST00000337231.5	+	5	1694	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	428												all_lung(278;0.226)					CGTGGACAAGCGGCTGGAACA	0.612													C|||	2	0.000399361	0	0	5008	,	,		16049	0		0.002	False		,,,				2504	0					uc002jml.4																			0											c.(1282-1284)Cgg>Tgg		Homo sapiens cerebellar degeneration-related protein 2-like (CDR2L), mRNA.		C	TRP/ARG	1,4405		0,1,2202	28	25	26		1282	4	1	17	dbSNP_134	26	11,8587		0,11,4288	yes	missense	CDR2L	NM_014603.2	101	0,12,6490	TT,TC,CC		0.1279,0.0227,0.0923	probably-damaging	428/466	73000053	12,12992	2203	4299	6502	SO:0001583	missense	30850							g.chr17:73000053C>T		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"paraneoplastic antigen"						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.1282C>T	17.37:g.73000053C>T	ENSP00000336587:p.Arg428Trp						p.R428W	NM_014603	NP_055418	Q86X02	CDR2L_HUMAN			4	1694	+	all_lung(278;0.226)		428					B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	c.1282C>T	CCDS11710.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	18.45	3.626313	0.66901	2.27E-4	0.001279	ENSG00000109089	ENST00000337231	T	0.47869	0.83	5.02	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.75447	2.3	0.46654	D	0.999146	D	0.89917	1.0	D	0.87578	0.998	T	0.69907	-0.5018	10	0.72032	D	0.01	-30.1482	12.828	0.57731	0.3703:0.6297:0.0:0.0	.	428	Q86X02	CDR2L_HUMAN	W	428	ENSP00000336587:R428W	ENSP00000336587:R428W	R	+	1	2	CDR2L	70511648	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.632000	0.37102	2.604000	0.88044	0.563000	0.77884	CGG		0.612	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		T	73000053	C	T	73000053	3	4	206	1	0	0	0	0	1	0	0	0	3173	759	27	1	1300	1	CDR2L	17	73000053	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	16705979	73000053	8195157	67	14452											
ITGB4	3691	broad.mit.edu	37	chr17	73725429	73725429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgtggatgagttccGgaataaactgcagggagagc	14	7	15	5	1	0	4	0	1	0	3	1	7	1	6	1	3	3	2	1	3	4	2	rs144968507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73725429G>A	ENST00000200181.3	+	7	837	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	ITGB4_ENST00000579662.1_Missense_Mutation_p.R217Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.R217Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R217Q|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.R217Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	217	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGAGTTCCGGAATAAACTG	0.602																																						uc002jpg.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(649-651)cGg>cAg		Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	101	90	94		650,650,650	4.6	1	17	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	43,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	217/1823,217/1806,217/1753	73725429	2,13004	2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725429G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.650G>A	17.37:g.73725429G>A	ENSP00000200181:p.Arg217Gln					ITGB4_uc002jph.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.3_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	p.R217Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	837	+	all_cancers(13;1.5e-07)		217			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.650G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992943	0.35131	0.0	2.33E-4	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92348	-3.02;-3.02;-3.02	5.58	4.55	0.56014	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.609682	0.15938	N	0.237358	D	0.88183	0.6368	N	0.26092	0.79	0.30139	N	0.804112	B;P;P;P	0.48162	0.227;0.752;0.792;0.906	B;B;B;P	0.44696	0.065;0.328;0.377;0.458	D	0.85043	0.0924	10	0.35671	T	0.21	.	15.2441	0.73493	0.0:0.0:0.8589:0.1411	.	217;217;217;217	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	Q	133;217;217;217	ENSP00000200181:R217Q;ENSP00000344079:R217Q;ENSP00000400217:R217Q	ENSP00000200181:R217Q	R	+	2	0	ITGB4	71237024	0.883000	0.30277	0.957000	0.39632	0.612000	0.37316	1.436000	0.34980	2.626000	0.88956	0.655000	0.94253	CGG		0.602	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73725429	G	A	73725429	3	1	206	1	0	0	0	0	1	0	0	0	7897	1116	39	2	672	2	ITGB4	17	73725429	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	725376	73725429	7469781	68	14453											
ROCK1	6093	broad.mit.edu	37	chr18	18547745	18547745	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagttccttctgatgttTcactaccatctggttgaatt	8	18	6	9	0	4	2	2	2	2	0	5	2	5	2	2	1	1	3	2	1	2	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:18547745T>A	ENST00000399799.2	-	26	4100	c.3160A>T	c.(3160-3162)Aaa>Taa	p.K1054*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1054					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTGATGTTTCACTACCATC	0.353																																						uc002kte.3																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3160-3162)Aaa>Taa		Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.							243	239	241					18																	18547745		2203	4300	6503	SO:0001587	stop_gained	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18547745T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3160A>T	18.37:g.18547745T>A	ENSP00000382697:p.Lys1054*						p.K1054*	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			25	4101	-	Melanoma(1;0.165)		1054					B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	ENST00000399799.2	37	c.3160A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	49	15.615751	0.99839	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2476	0.73517	0.0:0.0:0.0:1.0	.	.	.	.	X	1054	.	ENSP00000382697:K1054X	K	-	1	0	ROCK1	16801743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	1.996000	0.58369	0.477000	0.44152	AAA		0.353	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18547745	T	A	18547745	4	1	206	1	0	0	0	0	0	1	0	0	13517	1792	62	5	936	5	ROCK1	18	18547745	Nonsense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08		18547745	59529503	69	14454											
CTAGE1	64693	broad.mit.edu	37	chr18	19996798	19996798	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcttgttcagtctgaagaTttttaatatgctctgtaagc	10	17	8	6	0	3	2	1	1	2	1	3	2	3	2	0	0	3	4	0	0	4	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:19996798T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.N326I			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCTGAAGATTTTTAATATG	0.308																																						uc002ktv.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(976-978)aAt>aTt		Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							33	38	36					18																	19996798		2131	4260	6391	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996798T>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996798T>A	Exception_encountered						p.N326I	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			0	1081	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		326					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.977A>T		.	.	.	.	.	.	.	.	.	.	T	12.08	1.831044	0.32329	.	.	ENSG00000212710	ENST00000391403	T	0.76709	-1.04	0.741	0.741	0.18336	.	.	.	.	.	T	0.72011	0.3408	M	0.79475	2.455	0.09310	N	1	P	0.40909	0.732	B	0.37451	0.25	T	0.63594	-0.6602	8	.	.	.	.	3.7843	0.08694	0.0:0.0:0.0:1.0	.	326	Q96RT6	CTGE2_HUMAN	I	326	ENSP00000375220:N326I	.	N	-	2	0	CTAGE1	18250796	0.987000	0.35691	0.025000	0.17156	0.259000	0.26198	0.648000	0.24828	0.560000	0.29169	0.369000	0.22263	AAT		0.308	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19996798	T	A	19996798	1	1	206	0	1	0	0	0	0	0	0	0	3992	1493	52	5		5	CTAGE1	18	19996798	5'Flank	SNP	T	TCGA-28-2513-01A-01D-1494-08	1449053	19996798	58080450	70	14455											
DSC2	1824	broad.mit.edu	37	chr18	28673541	28673541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctaccaacaagtttctcGgcatctagtttggagggaac	10	11	9	11	1	3	0	0	0	3	0	4	2	3	2	2	3	3	3	2	3	5	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:28673541G>A	ENST00000280904.6	-	2	578	c.135C>T	c.(133-135)gcC>gcT	p.A45A	DSC2_ENST00000251081.6_Silent_p.A45A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	45					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAGTTTCTCGGCATCTAGTT	0.338																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(133-135)gcC>gcT		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							102	106	105					18																	28673541		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28673541G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.135C>T	18.37:g.28673541G>A						DSC2_uc002kwk.4_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	p.A45A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		1	589	-			45						Silent	SNP	ENST00000280904.6	37	c.135C>T	CCDS11892.1																																																																																				0.338	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		A	28673541	G	A	28673541	2	1	206	1	0	0	0	0	0	0	0	1	4766	1103	39	2		2	DSC2	18	28673541	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	8676743	28673541	49403707	71	14456											
SMAD4	4089	broad.mit.edu	37	chr18	48604808	48604808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgaagtacttcataccatgCcgattgcagacccacaacct	13	8	6	14	2	1	1	1	0	0	1	1	3	1	1	4	0	5	2	4	0	4	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:48604808C>T	ENST00000342988.3	+	12	2168	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	SMAD4_ENST00000588745.1_Missense_Mutation_p.P448S|SMAD4_ENST00000398417.2_Missense_Mutation_p.P544S|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	544	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCATACCATGCCGATTGCAGA	0.458																																						uc010xdp.2																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)|p.P544P(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1630-1632)Ccg>Tcg		Homo sapiens SMAD family member 4 (SMAD4), mRNA.							75	79	77					18																	48604808		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604808C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1630C>T	18.37:g.48604808C>T	ENSP00000341551:p.Pro544Ser					SMAD4_uc002lfb.4_Missense_Mutation_p.P389S	p.P544S	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	2168	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	544			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1630C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014369	0.54468	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.97089	-4.24;-4.24	5.98	5.98	0.97165	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	L	0.54965	1.715	0.80722	D	1	P	0.47677	0.899	B	0.34093	0.175	D	0.93440	0.6793	10	0.22706	T	0.39	.	19.2148	0.93772	0.0:1.0:0.0:0.0	.	544	Q13485	SMAD4_HUMAN	S	544	ENSP00000341551:P544S;ENSP00000381452:P544S	ENSP00000341551:P544S	P	+	1	0	SMAD4	46858806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.639000	0.83342	2.838000	0.97847	0.655000	0.94253	CCG		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		T	48604808	C	T	48604808	3	4	206	1	0	0	0	0	1	0	0	0	14760	739	26	3	1672	3	SMAD4	18	48604808	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	19931267	48604808	29472440	72	14457											
SERPINB4	6318	broad.mit.edu	37	chr18	61305084	61305084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattcgactactactacagCggtggcagctgcagcttcca	10	10	9	12	2	0	0	0	0	0	0	2	1	1	0	1	2	7	4	1	2	4	6	rs200350590	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:61305084C>T	ENST00000341074.5	-	8	1157	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A296T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	348					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A348T(1)|p.A348S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTACTACAGCGGTGGCAGCT	0.468													C|||	2	0.000399361	0	0	5008	,	,		20444	0		0.002	False		,,,				2504	0					uc002ljf.3																			2	Substitution - Missense(2)	p.A348T(1)|p.A348S(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(1042-1044)Gct>Act		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							105	101	102					18																	61305084		2203	4300	6503	SO:0001583	missense	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305084C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1042G>A	18.37:g.61305084C>T	ENSP00000343445:p.Ala348Thr					SERPINB3_uc002lje.3_Missense_Mutation_p.A327T|SERPINB3_uc002ljg.3_Missense_Mutation_p.A348T	p.A348T	NM_002974	NP_002965	P29508	SPB3_HUMAN			7	1128	-			348					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1042G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	c	12.95	2.091542	0.36952	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.83506	-1.73;-1.73	4.51	2.72	0.32119	Serpin domain (3);	0.344548	0.20980	N	0.082221	T	0.74007	0.3660	L	0.41906	1.305	0.09310	N	1	B;B;B	0.12630	0.002;0.001;0.006	B;B;B	0.10450	0.002;0.001;0.005	T	0.60890	-0.7173	10	0.33940	T	0.23	.	9.8523	0.41064	0.0:0.8322:0.0:0.1678	.	348;348;327	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	T	348;296	ENSP00000343445:A348T;ENSP00000348795:A296T	ENSP00000343445:A348T	A	-	1	0	SERPINB4	59456064	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	0.634000	0.30469	-0.192000	0.12808	GCT		0.468	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		T	61305084	C	T	61305084	3	4	206	1	0	0	0	0	1	0	0	0	14103	768	27	1	134	1	SERPINB4	18	61305084	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	12700276	61305084	16772164	73	14458											
FBN3	84467	broad.mit.edu	37	chr19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacccagcagtgttgaCgcaacgcccgttgggacaga	12	5	13	11	3	0	3	0	1	0	2	0	5	0	4	2	1	2	4	2	1	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:8190851C>T	ENST00000600128.1	-	22	3070	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	FBN3_ENST00000270509.2_Missense_Mutation_p.V886I|FBN3_ENST00000601739.1_Missense_Mutation_p.V886I			Q75N90	FBN3_HUMAN	fibrillin 3	886	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGTTGACGCAACGCCCG	0.637																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2656-2658)Gtc>Atc		Homo sapiens fibrillin 3 (FBN3), mRNA.							68	58	61					19																	8190851		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190851C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2656G>A	19.37:g.8190851C>T	ENSP00000470498:p.Val886Ile						p.V886I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			20	2673	-			886			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2656G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	5.198	0.221976	0.09863	.	.	ENSG00000142449	ENST00000270509	D	0.90324	-2.65	4.0	-3.64	0.04515	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.309128	0.28694	N	0.014452	T	0.77123	0.4084	N	0.12961	0.28	0.29881	N	0.826019	B	0.09022	0.002	B	0.04013	0.001	T	0.61247	-0.7101	10	0.30078	T	0.28	.	8.8603	0.35253	0.0:0.4287:0.1847:0.3866	.	886	Q75N90	FBN3_HUMAN	I	886	ENSP00000270509:V886I	ENSP00000270509:V886I	V	-	1	0	FBN3	8096851	0.433000	0.25562	0.079000	0.20413	0.001000	0.01503	-0.127000	0.10547	-1.022000	0.03346	-2.349000	0.00243	GTC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8190851	C	T	8190851	3	4	206	1	0	0	0	0	1	0	0	0	5704	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		8190851	50938132	74	14459											
MUC16	94025	broad.mit.edu	37	chr19	9068764	9068764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgaggttgtcacaaGgagaggtgcctgagaagaga	14	6	17	4	0	1	5	1	2	0	4	1	8	1	5	1	4	1	1	1	4	3	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:9068764G>T	ENST00000397910.4	-	3	18885	c.18682C>A	c.(18682-18684)Ctt>Att	p.L6228I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6230	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTCACAAGGAGAGGTGCC	0.478																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18682-18684)Ctt>Att		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							121	122	121					19																	9068764		2069	4192	6261	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068764G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18682C>A	19.37:g.9068764G>T	ENSP00000381008:p.Leu6228Ile						p.L6228I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	18886	-			6230			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18682C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.210	-0.161930	0.06502	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	1.57	-2.51	0.06365	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	.	.	.	P	0.38148	0.62	B	0.25405	0.06	T	0.22243	-1.0222	8	0.87932	D	0	.	3.4387	0.07456	0.2035:0.4445:0.352:0.0	.	6228	B5ME49	.	I	6228	ENSP00000381008:L6228I	ENSP00000381008:L6228I	L	-	1	0	MUC16	8929764	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.206000	0.09398	-0.512000	0.06505	0.174000	0.16983	CTT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9068764	G	T	9068764	3	4	206	1	0	0	0	0	1	0	0	0	9973	1000	35	5	25169	5	MUC16	19	9068764	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	877913	9068764	50060219	75	14460											
RTBDN	83546	broad.mit.edu	37	chr19	12939705	12939705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctcggcactccacagcGttctggatggtttccagggc	6	9	14	12	2	1	0	0	0	1	0	4	1	3	1	2	5	1	4	2	5	0	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:12939705G>A	ENST00000458671.2	-	3	384	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RTBDN_ENST00000592204.1_Missense_Mutation_p.R88C|RTBDN_ENST00000589272.1_Missense_Mutation_p.R110C|RTBDN_ENST00000393233.2_Silent_p.N36N|RTBDN_ENST00000322912.5_Missense_Mutation_p.R110C|CTD-2265O21.3_ENST00000588469.1_RNA	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	78						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACTCCACAGCGTTCTGGATGG	0.582																																						uc002mvj.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(328-330)Cgc>Tgc		Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.							153	124	134					19																	12939705		2203	4300	6503	SO:0001583	missense	83546					extracellular region		g.chr19:12939705G>A	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.232C>T	19.37:g.12939705G>A	ENSP00000416375:p.Arg78Cys					RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvi.3_Missense_Mutation_p.R78C|RTBDN_uc021upo.1_Missense_Mutation_p.R88C	p.R110C	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN			3	646	-			78					F1T0I8|Q9BWT5	Missense_Mutation	SNP	ENST00000458671.2	37	c.328C>T	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955381	0.53293	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.79141	-1.24;-1.24	4.05	-1.88	0.07713	Folate receptor-like (1);	0.816257	0.10165	N	0.707812	T	0.80819	0.4696	L	0.56769	1.78	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62382	0.901;0.894;0.894	T	0.69815	-0.5043	10	0.87932	D	0	-31.4904	6.5008	0.22168	0.0:0.2919:0.2916:0.4164	.	110;78;88	Q9BSG5-2;Q9BSG5;F1T0I8	.;RTBDN_HUMAN;.	C	110;78	ENSP00000326253:R110C;ENSP00000416375:R78C	ENSP00000326253:R110C	R	-	1	0	RTBDN	12800705	0.000000	0.05858	0.002000	0.10522	0.084000	0.17831	-0.249000	0.08842	-0.306000	0.08818	0.563000	0.77884	CGC		0.582	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		A	12939705	G	A	12939705	3	1	206	1	0	0	0	0	1	0	0	0	13717	1145	40	1	473	1	RTBDN	19	12939705	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	3870941	12939705	46189278	76	14461											
GTPBP3	84705	broad.mit.edu	37	chr19	17450006	17450006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcgggcagaggctcCgctcaggggtgcacgtagtg	6	5	18	12	4	1	1	1	0	0	1	2	1	2	1	2	5	1	5	2	5	1	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:17450006C>A	ENST00000324894.8	+	6	807	c.739C>A	c.(739-741)Cgc>Agc	p.R247S	GTPBP3_ENST00000358792.7_Missense_Mutation_p.R279S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R269S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R247S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	247					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662																																						uc002ngg.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(835-837)Cgc>Agc		Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.							37	36	36					19																	17450006		2203	4300	6503	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17450006C>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.739C>A	19.37:g.17450006C>A	ENSP00000313818:p.Arg247Ser					GTPBP3_uc010xpo.2_Missense_Mutation_p.R269S|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngh.4_Missense_Mutation_p.R247S	p.R279S	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN			4	930	+			247					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.835C>A	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.075702	0.55646	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13538	2.58;2.58;2.58	4.79	4.79	0.61399	.	0.053436	0.64402	D	0.000001	T	0.43122	0.1233	M	0.91249	3.19	0.54753	D	0.99998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.985;0.978;0.99;0.971	T	0.51309	-0.8722	10	0.87932	D	0	-20.2458	10.5909	0.45308	0.1925:0.8075:0.0:0.0	.	269;247;247;279	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	269;247;279	ENSP00000354598:R269S;ENSP00000313818:R247S;ENSP00000351644:R279S	ENSP00000313818:R247S	R	+	1	0	GTPBP3	17311006	1.000000	0.71417	0.909000	0.35828	0.111000	0.19643	4.906000	0.63293	2.204000	0.70986	0.484000	0.47621	CGC		0.662	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		A	17450006	C	A	17450006	3	1	206	1	0	0	0	0	1	0	0	0	6881	652	23	5	853	5	GTPBP3	19	17450006	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	4510301	17450006	41678977	77	14462											
UBA52	7311	broad.mit.edu	37	chr19	18684123	18684123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaacatgcagatctttGtgaagaccctcactggcaaa	14	8	8	11	1	2	3	1	1	1	2	2	3	2	3	1	1	2	3	1	1	3	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:18684123G>C	ENST00000442744.2	+	2	71	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	UBA52_ENST00000597451.1_Missense_Mutation_p.V5L|UBA52_ENST00000598780.1_Missense_Mutation_p.V5L|UBA52_ENST00000599551.1_Missense_Mutation_p.V5L|UBA52_ENST00000599595.1_Missense_Mutation_p.V5L|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000430157.2_Missense_Mutation_p.V5L|UBA52_ENST00000596273.1_Missense_Mutation_p.V5L|UBA52_ENST00000596304.1_Missense_Mutation_p.V5L|UBA52_ENST00000595683.1_Missense_Mutation_p.V5L|UBA52_ENST00000595158.1_Missense_Mutation_p.V5L	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	5	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						GCAGATCTTTGTGAAGACCCT	0.517																																						uc002njr.3																			0				endometrium(1)|large_intestine(2)	3						c.(13-15)Gtg>Ctg		Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.							78	65	70					19																	18684123		2203	4300	6503	SO:0001583	missense	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18684123G>C		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"L ribosomal proteins"	12458	protein-coding gene	gene with protein product	"ribosomal protein L40", "ubiquitin-52 amino acid fusion protein", "ubiquitin carboxyl extension protein 52", "60S ribosomal protein L40", "ubiquitin-CEP52"	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.13G>C	19.37:g.18684123G>C	ENSP00000388107:p.Val5Leu					UBA52_uc002njs.3_Missense_Mutation_p.V5L|UBA52_uc021uqs.1_5'Flank	p.V5L	NM_001033930	NP_003324	P62987	RL40_HUMAN			1	127	+			5			Ubiquitin-like.		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	c.13G>C	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011063	0.75046	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.56611	0.45;0.45	4.91	4.91	0.64330	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.77712	2.385	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.58526	-0.7621	10	0.54805	T	0.06	-0.6308	15.5936	0.76558	0.0:0.0:1.0:0.0	.	5	P62987	RL40_HUMAN	L	5	ENSP00000388107:V5L;ENSP00000396910:V5L	ENSP00000396910:V5L	V	+	1	0	UBA52	18545123	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.522000	0.98032	2.278000	0.76064	0.462000	0.41574	GTG		0.517	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333		C	18684123	G	C	18684123	3	2	206	1	0	0	0	0	1	0	0	0	16828	1377	48	5	15	5	UBA52	19	18684123	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	1234117	18684123	40444860	78	14463											
ZNF787	126208	broad.mit.edu	37	chr19	56614551	56614551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtcctcagaatccagCggccccggagaccaggcttc	7	7	12	15	2	1	2	1	0	0	2	4	3	3	2	5	4	2	2	5	4	1	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:56614551C>T	ENST00000270459.3	-	2	154	c.36G>A	c.(34-36)ccG>ccA	p.P12P	ZNF787_ENST00000587279.1_Silent_p.P12P|Y_RNA_ENST00000411128.1_RNA	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CAGAATCCAGCGGCCCCGGAG	0.632																																						uc010eth.1																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(34-36)ccG>ccA		Homo sapiens zinc finger protein 787 (ZNF787), mRNA.							44	51	49					19																	56614551		1967	4141	6108	SO:0001819	synonymous_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56614551C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.36G>A	19.37:g.56614551C>T						ZNF787_uc002qml.1_Silent_p.P12P	p.P12P	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	1	155	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	12					O00455	Silent	SNP	ENST00000270459.3	37	c.36G>A	CCDS42634.1																																																																																				0.632	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		T	56614551	C	T	56614551	2	4	206	1	0	0	0	0	0	0	0	1	18156	755	27	1		1	ZNF787	19	56614551	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	37930428	56614551	2514432	79	14464											
ZFP28	140612	broad.mit.edu	37	chr19	57060380	57060380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcaagaaggacttctgcGaaggaaagctatcccaggca	13	7	10	11	1	2	1	1	0	2	1	4	4	3	3	1	3	2	2	1	3	5	2	rs142184982		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:57060380G>A	ENST00000301318.3	+	5	648	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.E193K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGACTTCTGCGAAGGAAAGCT	0.413																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.3																			0		p.C192C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(577-579)Gaa>Aaa		Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.		G	LYS/GLU	0,4406		0,0,2203	75	70	72		577	0.9	0	19	dbSNP_134	72	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZFP28	NM_020828.1	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	193/869	57060380	3,13003	2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57060380G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.577G>A	19.37:g.57060380G>A	ENSP00000301318:p.Glu193Lys					ZFP28_uc002qni.3_Missense_Mutation_p.E193K|BX647249_uc002qnk.1_Intron	p.E193K	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	4	648	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	193					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.577G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851260	0.32699	0.0	3.49E-4	ENSG00000196867	ENST00000301318	T	0.05786	3.39	4.34	0.87	0.19102	.	1.172930	0.06603	N	0.754134	T	0.03477	0.0100	N	0.12853	0.265	0.09310	N	1	B;B	0.29766	0.008;0.256	B;B	0.21708	0.002;0.036	T	0.47045	-0.9147	10	0.17832	T	0.49	.	6.8086	0.23792	0.3289:0.0:0.6711:0.0	.	193;193	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	K	193	ENSP00000301318:E193K	ENSP00000301318:E193K	E	+	1	0	ZFP28	61752192	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.006000	0.12833	0.145000	0.18977	0.655000	0.94253	GAA		0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		A	57060380	G	A	57060380	3	1	206	1	0	0	0	0	1	0	0	0	17639	1059	37	2	595	2	ZFP28	19	57060380	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	445829	57060380	2068603	80	14465											
MRPS26	64949	broad.mit.edu	37	chr20	3027090	3027090	+	Frame_Shift_Del	DEL	C	C	-																															ggttctggcggagcgcaaggCcctgaaggacgccgccgagc																										TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:3027090delC	ENST00000380325.3	+	2	408	c.284delC	c.(283-285)gccfs	p.A95fs		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	95					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						GAGCGCAAGGCCCTGAAGGAC	0.716																																						uc002whs.3																			0				kidney(1)|lung(1)	2						c.(283-285)gccfs		Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.							19	22	21					20																	3027090		2191	4289	6480	SO:0001589	frameshift_variant	64949				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr20:3027090delC	AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"Mitochondrial ribosomal proteins / small subunits"	14045	protein-coding gene	gene with protein product		611988	"chromosome 20 open reading frame 193"	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.284delC	20.37:g.3027090delC	ENSP00000369682:p.Ala95fs						p.A95fs	NM_030811	NP_110438	Q9BYN8	RT26_HUMAN			1	324	+			95					Q96Q58	Frame_Shift_Del	DEL	ENST00000380325.3	37	c.284delC	CCDS13043.1																																																																																				0.716	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077692.2	NM_030811		-	3027090	C	-	3027090	7	5	206	1	0	1	0	1	0	0	0	0	9837	739	26	0	290	0	MRPS26	20	3027090	Frame_Shift_Del	DEL	C	TCGA-28-2513-01A-01D-1494-08		3027090	59998430	81	14466											
SNX21	90203	broad.mit.edu	37	chr20	44469563	44469563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtgctgccggagctgCggcgggcacagagcctcacc	5	7	14	15	4	2	1	1	0	1	1	3	2	2	2	3	3	5	3	3	3	0	1	rs551089787	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:44469563C>T	ENST00000491381.1	+	4	801	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SNX21_ENST00000372542.1_Missense_Mutation_p.R236W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000462307.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	245	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCCGGAGCTGCGGCGGGCACA	0.662													C|||	4	0.000798722	0	0	5008	,	,		14104	0.004		0	False		,,,				2504	0					uc002xpv.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(733-735)Cgg>Tgg		Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.							21	24	23					20																	44469563		2198	4270	6468	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469563C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.733C>T	20.37:g.44469563C>T	ENSP00000418593:p.Arg245Trp					SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W	p.R245W	NM_033421	NP_219489	Q969T3	SNX21_HUMAN			3	822	+		Myeloproliferative disorder(115;0.0122)	245			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.733C>T	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870790	0.72065	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.63913	-0.07;-0.07	4.32	4.32	0.51571	Phox homologous domain (2);Tetratricopeptide-like helical (1);	0.270314	0.38058	N	0.001823	T	0.60932	0.2307	L	0.55990	1.75	0.80722	D	1	D;D	0.56287	0.975;0.975	B;B	0.43809	0.23;0.432	T	0.69624	-0.5095	10	0.87932	D	0	-11.0479	15.9699	0.80004	0.0:1.0:0.0:0.0	.	236;245	Q5JZH3;Q969T3	.;SNX21_HUMAN	W	245;236	ENSP00000418593:R245W;ENSP00000361620:R236W	ENSP00000361620:R236W	R	+	1	2	SNX21	43902970	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	3.203000	0.51075	2.249000	0.74217	0.462000	0.41574	CGG		0.662	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		T	44469563	C	T	44469563	3	4	206	1	0	0	0	0	1	0	0	0	14893	759	27	1	762	1	SNX21	20	44469563	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	41442473	44469563	18555957	82	14467											
PREX1	57580	broad.mit.edu	37	chr20	47276521	47276521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaagctgtttgttcttgCtgctggtcccctccatctcc	3	15	9	14	1	2	0	0	0	2	0	5	1	4	0	4	1	4	5	4	1	1	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:47276521C>T	ENST00000371941.3	-	16	1839	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N	PREX1_ENST00000396220.1_Missense_Mutation_p.S606N	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	606					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTTGTTCTTGCTGCTGGTCCC	0.562																																						uc002xtw.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1816-1818)aGc>aAc		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							180	139	153					20																	47276521		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47276521C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1817G>A	20.37:g.47276521C>T	ENSP00000361009:p.Ser606Asn						p.S606N	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		15	1840	-			606					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1817G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698791	0.48307	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.15718	2.4;2.4	5.42	1.09	0.20402	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (1);	0.333207	0.24933	U	0.034445	T	0.15825	0.0381	L	0.57536	1.79	0.42632	D	0.993381	B	0.02656	0.0	B	0.08055	0.003	T	0.05649	-1.0872	10	0.44086	T	0.13	.	8.5331	0.33346	0.0:0.3906:0.4721:0.1373	.	606	Q8TCU6	PREX1_HUMAN	N	606	ENSP00000361009:S606N;ENSP00000379522:S606N	ENSP00000361009:S606N	S	-	2	0	PREX1	46709928	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	2.172000	0.42463	0.267000	0.21916	0.505000	0.49811	AGC		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47276521	C	T	47276521	3	4	206	1	0	0	0	0	1	0	0	0	12476	797	28	3	3262	3	PREX1	20	47276521	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	2806958	47276521	15748999	83	14468											
TBC1D22A	25771	broad.mit.edu	37	chr22	47507479	47507479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagatggaggaaggaaataCtagaagaaaaagattttcaa	20	8	11	2	0	1	4	1	1	0	4	1	8	1	7	0	3	1	0	0	3	8	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr22:47507479C>G	ENST00000337137.4	+	12	1571	c.1405C>G	c.(1405-1407)Cta>Gta	p.L469V	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L422V|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L391V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L410V	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	469							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAAGGAAATACTAGAAGAAAA	0.368																																						uc003bib.3																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1405-1407)Cta>Gta		Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.							86	85	85					22																	47507479		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47507479C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1405C>G	22.37:g.47507479C>G	ENSP00000336724:p.Leu469Val					TBC1D22A_uc010haf.3_Missense_Mutation_p.L439V|TBC1D22A_uc003bie.3_Missense_Mutation_p.L391V|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.L422V	p.L469V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	11	1571	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	469					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1405C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836333	0.71373	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.3	5.3	0.74995	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000001	T	0.55305	0.1912	M	0.89534	3.04	0.80722	D	1	B;P;P;B	0.52842	0.389;0.956;0.939;0.389	B;P;P;B	0.58454	0.362;0.819;0.839;0.362	T	0.62086	-0.6928	10	0.54805	T	0.06	.	9.9716	0.41757	0.0:0.9078:0.0:0.0922	.	469;391;410;469	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	V	469;410;391;422	ENSP00000336724:L469V;ENSP00000384036:L410V;ENSP00000347932:L391V;ENSP00000385634:L422V	ENSP00000336724:L469V	L	+	1	2	TBC1D22A	45886143	0.921000	0.31238	0.995000	0.50966	0.995000	0.86356	1.856000	0.39389	2.462000	0.83206	0.655000	0.94253	CTA		0.368	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		G	47507479	C	G	47507479	3	3	206	1	0	0	0	0	1	0	0	0	15608	564	20	5	1451	5	TBC1D22A	22	47507479	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		47507479	3797087	84	14469											
POLA1	5422	broad.mit.edu	37	chrX	24766501	24766501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcccagagagatccGgaaactggtagaacggagaa	14	7	12	8	2	0	4	0	0	0	4	1	7	1	5	2	3	3	1	2	3	4	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:24766501G>A	ENST00000379059.3	+	25	2762	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	POLA1_ENST00000379068.3_Missense_Mutation_p.R922Q	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	916					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.R916Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AGAGAGATCCGGAAACTGGTA	0.398																																						uc004dbl.3																			1	Substitution - Missense(1)	p.R916Q(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(2746-2748)cGg>cAg		Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	Clofarabine(DB00631)|Fludarabine(DB01073)						105	94	97					X																	24766501		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24766501G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2747G>A	X.37:g.24766501G>A	ENSP00000368349:p.Arg916Gln						p.R916Q	NM_016937	NP_058633	P09884	DPOLA_HUMAN			24	2762	+			916					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.2747G>A	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192524	0.94960	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17370	2.28;2.28	4.96	4.96	0.65561	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.053916	0.64402	D	0.000001	T	0.37376	0.1001	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02668	-1.1126	10	0.36615	T	0.2	-2.7913	17.2332	0.86990	0.0:0.0:1.0:0.0	.	916	P09884	DPOLA_HUMAN	Q	922;916	ENSP00000368358:R922Q;ENSP00000368349:R916Q	ENSP00000368349:R916Q	R	+	2	0	POLA1	24676422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	2.438000	0.82558	0.600000	0.82982	CGG		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		A	24766501	G	A	24766501	3	1	206	1	0	0	0	0	1	0	0	0	12187	1116	39	2	2845	2	POLA1	23	24766501	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		24766501	130504059	85	14470											
MAGEB2	4113	broad.mit.edu	37	chrX	30236767	30236767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcccgagatgagacccggGgtctcaatgttcctcaggtc	8	8	13	12	2	2	2	2	1	1	2	5	4	3	2	3	4	0	1	3	4	1	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30236767G>T	ENST00000378988.4	+	2	171	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	24										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAGACCCGGGGTCTCAATGT	0.577																																						uc022buf.1																			0		p.R23W(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(70-72)Ggt>Tgt		Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.							37	36	36					X																	30236767		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236767G>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.70G>T	X.37:g.30236767G>T	ENSP00000368273:p.Gly24Cys					MAGEB2_uc004dbz.3_Missense_Mutation_p.G24C	p.G24C	NM_002364	NP_002355	O15479	MAGB2_HUMAN			0	70	+			24					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.70G>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	g	8.010	0.757244	0.15846	.	.	ENSG00000099399	ENST00000378988	T	0.06528	3.29	3.43	-3.83	0.04269	Melanoma associated antigen, MAGE, N-terminal (1);	1.474270	0.03896	N	0.279544	T	0.08133	0.0203	L	0.56280	1.765	0.09310	N	1	P	0.38455	0.632	B	0.38500	0.275	T	0.27773	-1.0064	10	0.56958	D	0.05	.	6.1918	0.20528	0.6045:0.149:0.2465:0.0	.	24	O15479	MAGB2_HUMAN	C	24	ENSP00000368273:G24C	ENSP00000368273:G24C	G	+	1	0	MAGEB2	30146688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.686000	0.05161	-1.295000	0.02357	-1.110000	0.02074	GGT		0.577	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		T	30236767	G	T	30236767	3	4	206	1	0	0	0	0	1	0	0	0	9176	1232	43	5	72	5	MAGEB2	23	30236767	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5470266	30236767	125033793	86	14471											
MAGEB4	4115	broad.mit.edu	37	chrX	30260607	30260607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacgaagatgttagtgcagTtcctgctgtacaagtataaa	14	11	10	6	1	0	2	0	0	0	2	1	3	1	2	1	0	3	6	1	0	7	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30260607T>A	ENST00000378982.2	+	1	551	c.355T>A	c.(355-357)Ttc>Atc	p.F119I	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	119	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTTAGTGCAGTTCCTGCTGTA	0.443																																						uc004dcb.3																			0		p.Q118K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(355-357)Ttc>Atc		Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.							55	41	46					X																	30260607		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260607T>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.355T>A	X.37:g.30260607T>A	ENSP00000368266:p.Phe119Ile					MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	p.F119I	NM_002367	NP_002358	O15481	MAGB4_HUMAN			0	551	+			119			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.355T>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.316514	0.60524	.	.	ENSG00000120289	ENST00000378982	T	0.07114	3.22	3.19	2.03	0.26663	.	0.346031	0.25925	U	0.027408	T	0.26810	0.0656	H	0.95884	3.735	0.09310	N	1	P	0.47910	0.902	P	0.53035	0.716	T	0.18241	-1.0343	10	0.72032	D	0.01	.	4.2235	0.10570	0.0:0.1645:0.0:0.8355	.	119	O15481	MAGB4_HUMAN	I	119	ENSP00000368266:F119I	ENSP00000368266:F119I	F	+	1	0	MAGEB4	30170528	0.001000	0.12720	0.001000	0.08648	0.325000	0.28411	0.699000	0.25586	0.476000	0.27440	0.441000	0.28932	TTC		0.443	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		A	30260607	T	A	30260607	3	1	206	1	0	0	0	0	1	0	0	0	9178	1725	60	5	357	5	MAGEB4	23	30260607	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	23840	30260607	125009953	87	14472											
DMD	1756	broad.mit.edu	37	chrX	32404521	32404521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttctgtacaatctgaCgtccagtctttatcaccatt	8	17	5	11	1	4	1	1	1	3	0	5	1	5	1	2	0	1	2	2	0	3	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:32404521C>T	ENST00000357033.4	-	33	4786	c.4580G>A	c.(4579-4581)cGt>cAt	p.R1527H	DMD_ENST00000378677.2_Missense_Mutation_p.R1523H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1527	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACAATCTGACGTCCAGTCTT	0.353																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4579-4581)cGt>cAt		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							193	162	172					X																	32404521		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404521C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4580G>A	X.37:g.32404521C>T	ENSP00000354923:p.Arg1527His					DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	p.R1527H	NM_004006	NP_004001	P11532	DMD_HUMAN			32	4824	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1527			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4580G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241921	0.95272	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35789	1.29;1.29	5.47	5.47	0.80525	.	0.000000	0.32868	U	0.005544	T	0.65523	0.2699	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.996;0.996;0.996	T	0.70988	-0.4722	10	0.72032	D	0.01	.	18.4171	0.90574	0.0:1.0:0.0:0.0	.	1519;1527;1523;186;183	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	H	1519;186;183;1523;1527;1527;1404	ENSP00000367948:R1523H;ENSP00000354923:R1527H	ENSP00000354923:R1527H	R	-	2	0	DMD	32314442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.289000	0.77006	0.600000	0.82982	CGT		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32404521	C	T	32404521	3	4	206	1	0	0	0	0	1	0	0	0	4580	536	19	1	6813	1	DMD	23	32404521	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	2143914	32404521	122866039	88	14473											
OTC	5009	broad.mit.edu	37	chrX	38260580	38260580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgagtgtataaacaatcaGatttggacaccctggctaaa	14	10	8	9	1	1	1	1	0	0	1	2	3	1	2	1	2	1	2	1	2	6	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:38260580G>A	ENST00000039007.4	+	5	591	c.439G>A	c.(439-441)Gat>Aat	p.D147N	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	147					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TAAACAATCAGATTTGGACAC	0.408																																						uc004def.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(439-441)Gat>Aat		Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	L-Citrulline(DB00155)|L-Ornithine(DB00129)						117	87	97					X																	38260580		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38260580G>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.439G>A	X.37:g.38260580G>A	ENSP00000039007:p.Asp147Asn						p.D147N	NM_000531	NP_000522	P00480	OTC_HUMAN			4	653	+			147					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.439G>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443663	0.83993	.	.	ENSG00000036473	ENST00000039007	D	0.99005	-5.32	5.97	5.97	0.96955	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.139486	0.64402	D	0.000004	D	0.99124	0.9698	M	0.77616	2.38	0.50171	D	0.999857	D	0.61697	0.99	P	0.59948	0.866	D	0.99716	1.1008	10	0.42905	T	0.14	1.8577	19.371	0.94484	0.0:0.0:1.0:0.0	.	147	P00480	OTC_HUMAN	N	147	ENSP00000039007:D147N	ENSP00000039007:D147N	D	+	1	0	OTC	38145524	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.968000	0.70413	2.527000	0.85204	0.600000	0.82982	GAT		0.408	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			A	38260580	G	A	38260580	3	1	206	1	0	0	0	0	1	0	0	0	11301	942	33	3	457	3	OTC	23	38260580	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5856059	38260580	117009980	89	14474											
MAGED1	9500	broad.mit.edu	37	chrX	51640084	51640084	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcagaacctgcgccccTcgcctaacctgcgcccttct	6	8	8	19	3	1	1	0	0	1	1	2	1	1	1	6	1	4	1	6	1	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:51640084T>A	ENST00000375722.1	+	4	1585	c.1333T>A	c.(1333-1335)Tcg>Acg	p.S445T	MAGED1_ENST00000375772.3_Missense_Mutation_p.S445T|MAGED1_ENST00000326587.7_Missense_Mutation_p.S445T|MAGED1_ENST00000375695.2_Missense_Mutation_p.S501T|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	445	Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTGCGCCCCTCGCCTAACCT	0.602										Multiple Myeloma(10;0.10)																												uc004dpn.3																			0		p.S501S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1501-1503)Tcg>Acg		Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.							42	27	32					X																	51640084		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640084T>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1333T>A	X.37:g.51640084T>A	ENSP00000364874:p.Ser445Thr	Multiple Myeloma(10;0.10)				MAGED1_uc004dpm.3_Missense_Mutation_p.S445T|MAGED1_uc004dpo.3_Missense_Mutation_p.S445T	p.S501T	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN			4	1691	+	Ovarian(276;0.236)		445			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1501T>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446642	0.25987	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.95	2.8	0.32819	.	0.000000	0.29646	N	0.011563	T	0.45915	0.1366	L	0.38175	1.15	0.25676	N	0.985844	D;P	0.61697	0.99;0.915	P;B	0.52957	0.714;0.441	T	0.26538	-1.0100	10	0.37606	T	0.19	.	4.0169	0.09647	0.0:0.2701:0.0:0.7299	.	501;445	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	445;445;445;501	ENSP00000364927:S445T;ENSP00000364874:S445T;ENSP00000325333:S445T;ENSP00000364847:S501T	ENSP00000325333:S445T	S	+	1	0	MAGED1	51656824	0.122000	0.22280	0.998000	0.56505	0.673000	0.39480	1.778000	0.38614	1.536000	0.49237	0.235000	0.17854	TCG		0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		A	51640084	T	A	51640084	3	1	206	1	0	0	0	0	1	0	0	0	9183	1551	54	5	1515	5	MAGED1	23	51640084	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	13379504	51640084	103630476	90	14475											
CDX4	1046	broad.mit.edu	37	chrX	72667161	72667161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgagccctgggggcgaCggcacagctgggacaggcgg	7	4	18	12	3	1	1	1	1	0	0	1	3	1	2	1	6	2	2	1	6	0	0			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:72667161C>T	ENST00000373514.2	+	1	72	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	24					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGGGCGACGGCACAGCTG	0.612																																						uc011mqk.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(70-72)gaC>gaT		Homo sapiens caudal type homeobox 4 (CDX4), mRNA.							35	34	34					X																	72667161		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667161C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.72C>T	X.37:g.72667161C>T							p.D24D	NM_005193	NP_005184	O14627	CDX4_HUMAN			0	72	+	Renal(35;0.156)		24					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.72C>T	CCDS14424.1																																																																																				0.612	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		T	72667161	C	T	72667161	2	4	206	1	0	0	0	0	0	0	0	1	3184	535	19	1		1	CDX4	23	72667161	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	21027077	72667161	82603399	91	14476											
PCDH19	57526	broad.mit.edu	37	chrX	99662512	99662512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacgtagcccgggggggCgctctcgctgacctccacaa	7	6	13	15	4	2	1	1	1	1	0	4	2	3	1	3	3	1	3	3	3	2	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:99662512C>T	ENST00000373034.4	-	1	2759	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	PCDH19_ENST00000255531.7_Missense_Mutation_p.A362T|PCDH19_ENST00000420881.2_Missense_Mutation_p.A362T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	362	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGGGGGGGCGCTCTCGCTG	0.607																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1084-1086)Gcc>Acc		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.							43	47	46					X																	99662512		2191	4269	6460	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662512C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1084G>A	X.37:g.99662512C>T	ENSP00000362125:p.Ala362Thr					PCDH19_uc004efw.4_Missense_Mutation_p.A362T|PCDH19_uc004efx.4_Missense_Mutation_p.A362T	p.A362T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	2760	-			362			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1084G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736136	0.89482	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55413	0.52;0.52;0.52	5.95	5.95	0.96441	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.99	T	0.69109	-0.5232	10	0.54805	T	0.06	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	362;362;362	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	T	362	ENSP00000400327:A362T;ENSP00000362125:A362T;ENSP00000255531:A362T	ENSP00000255531:A362T	A	-	1	0	PCDH19	99549168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.498000	0.84270	0.513000	0.50165	GCC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		T	99662512	C	T	99662512	3	4	206	1	0	0	0	0	1	0	0	0	11514	768	27	1	2386	1	PCDH19	23	99662512	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	26995351	99662512	55608048	92	14477											
DDX26B	203522	broad.mit.edu	37	chrX	134681139	134681139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaaagttcagagtggtGtagttattaattttgaaaaa	16	15	8	2	0	2	2	2	1	0	1	2	2	2	2	0	1	0	3	0	1	7	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:134681139G>A	ENST00000370752.4	+	6	1025	c.691G>A	c.(691-693)Gta>Ata	p.V231I	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	231										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTGGTGTAGTTATTAA	0.338																																						uc004eyw.4																			0				large_intestine(1)|lung(8)	9						c.(691-693)Gta>Ata		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.							135	137	137					X																	134681139		2203	4298	6501	SO:0001583	missense	203522							g.chrX:134681139G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.691G>A	X.37:g.134681139G>A	ENSP00000359788:p.Val231Ile						p.V231I	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			5	1054	+	Acute lymphoblastic leukemia(192;6.56e-05)		231					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.691G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882961	0.72410	.	.	ENSG00000165359	ENST00000370752	T	0.37752	1.18	5.42	5.42	0.78866	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	L	0.54965	1.715	0.80722	D	1	D	0.60575	0.988	P	0.54401	0.751	T	0.41305	-0.9516	10	0.39692	T	0.17	-4.3966	17.2255	0.86969	0.0:0.0:1.0:0.0	.	231	Q5JSJ4	DX26B_HUMAN	I	231	ENSP00000359788:V231I	ENSP00000359788:V231I	V	+	1	0	DDX26B	134508805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.278000	0.76064	0.529000	0.55759	GTA		0.338	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		A	134681139	G	A	134681139	3	1	206	1	0	0	0	0	1	0	0	0	4353	1377	48	3	713	3	DDX26B	23	134681139	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	35018627	134681139	20589421	93	14478											
CSAG1	158511	broad.mit.edu	37	chrX	151908921	151908921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacaaccacccatcaacaCcaaagaggcgaggaagggga	17	1	10	13	1	1	1	1	0	0	1	1	4	1	3	4	4	3	0	4	4	5	0	rs367758915		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:151908921C>A	ENST00000370287.3	+	4	488	c.160C>A	c.(160-162)Cca>Aca	p.P54T	CSAG1_ENST00000452779.2_Missense_Mutation_p.P54T|CSAG1_ENST00000370291.2_Missense_Mutation_p.P54T	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	54										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATCAACACCAAAGAGGCG	0.557																																						uc004fge.3																			0				central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(160-162)Cca>Aca		Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.		C	THR/PRO,THR/PRO	0,3835		0,0,0,1632,571	225	207	213		160,160	0.8	0	X		213	1,6727		0,0,1,2428,1871	no	missense,missense	CSAG1	NM_001102576.1,NM_153478.1	38,38	0,0,1,4060,2442	AA,AC,A,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	54/79,54/79	151908921	1,10562	2203	4300	6503	SO:0001583	missense	158511							g.chrX:151908921C>A	AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"cancer/testis antigen family 24, member 1"					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.160C>A	X.37:g.151908921C>A	ENSP00000359310:p.Pro54Thr					CSAG1_uc004fgf.3_Missense_Mutation_p.P54T|CSAG1_uc004fgd.3_Non-coding_Transcript	p.P54T	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN			3	488	+	Acute lymphoblastic leukemia(192;6.56e-05)		54					A6NE22	Missense_Mutation	SNP	ENST00000370287.3	37	c.160C>A	CCDS14711.1	.	.	.	.	.	.	.	.	.	.	C	5.910	0.351891	0.11182	0.0	1.49E-4	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.61859	1.35;1.35;0.07	0.837	0.837	0.18896	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.52540	-0.8562	7	0.87932	D	0	.	.	.	.	.	54	Q6PB30	CSAG1_HUMAN	T	54	ENSP00000359310:P54T;ENSP00000396520:P54T;ENSP00000359314:P54T	ENSP00000359310:P54T	P	+	1	0	CSAG1	151659577	0.017000	0.18338	0.004000	0.12327	0.004000	0.04260	0.615000	0.24329	0.689000	0.31550	0.179000	0.17066	CCA		0.557	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479		A	151908921	C	A	151908921	3	1	206	1	0	0	0	0	1	0	0	0	3926	507	18	5	166	5	CSAG1	23	151908921	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	17227782	151908921	3361639	94	14479											
G6PD	2539	broad.mit.edu	37	chrX	153760436	153760436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgggcttgggcttcTccagctcaatctggtgcagc	6	10	15	10	0	3	0	1	0	2	0	4	1	3	1	1	5	3	4	1	5	1	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:153760436T>C	ENST00000393564.2	-	12	1536	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.E505G|G6PD_ENST00000369620.2_Missense_Mutation_p.E521G	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	475					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGGCTTCTCCAGCTCAAT	0.627																																						uc004fly.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(1423-1425)gAg>gGg		Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.							34	32	33					X																	153760436		2203	4299	6502	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153760436T>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1424A>G	X.37:g.153760436T>C	ENSP00000377194:p.Glu475Gly					G6PD_uc004flx.1_Missense_Mutation_p.E505G	p.E475G	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			11	1537	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		475					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.1424A>G	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	4.496	0.091993	0.08632	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99830	-7.01;-7.01;-7.01	5.7	5.7	0.88788	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.057718	0.64402	D	0.000003	D	0.98626	0.9540	N	0.20986	0.625	0.58432	D	0.999992	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	D	0.99983	1.2801	10	0.17832	T	0.49	.	11.2102	0.48793	0.0:0.0:0.0:1.0	.	475;505	P11413;P11413-3	G6PD_HUMAN;.	G	505;475;475;521	ENSP00000377192:E505G;ENSP00000377194:E475G;ENSP00000358633:E521G	ENSP00000291567:E475G	E	-	2	0	G6PD	153413630	0.989000	0.36119	0.053000	0.19242	0.072000	0.16883	3.693000	0.54735	1.919000	0.55581	0.483000	0.47432	GAG		0.627	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		C	153760436	T	C	153760436	3	2	206	1	0	0	0	0	1	0	0	0	6146	1551	54	4	131	4	G6PD	23	153760436	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	1851515	153760436	1510124	95	14480											
PLCH2	9651	broad.mit.edu	37	chr1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacagcctggctcgccGccagcgcaccagggaccaat	9	3	13	16	4	0	0	0	0	0	0	1	3	0	2	5	3	2	2	5	3	1	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:2411398G>A	ENST00000419816.2	+	3	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_ENST00000449969.1_Missense_Mutation_p.R139H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687																																						uc001aji.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(496-498)cGc>cAc		Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.							24	28	27					1																	2411398		2099	4155	6254	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411398G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.497G>A	1.37:g.2411398G>A	ENSP00000389803:p.Arg166His					PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	p.R166H	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	2	771	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	166					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.497G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.032012	0.75504	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.25414	1.89;1.87;1.8	4.92	4.92	0.64577	.	.	.	.	.	T	0.49677	0.1571	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.52351	-0.8587	9	0.72032	D	0.01	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	166	O75038	PLCH2_HUMAN	H	139;166;166;13	ENSP00000397289:R139H;ENSP00000367747:R166H;ENSP00000367749:R166H	ENSP00000341313:R13H	R	+	2	0	PLCH2	2401258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.515000	0.98015	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		A	2411398	G	A	2411398	3	1	207	1	0	0	0	0	1	0	0	0	12038	1087	38	1	507	1	PLCH2	1	2411398	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		2411398	246839223	1	14481											
PTPN22	26191	broad.mit.edu	37	chr1	114399229	114399229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggctcagcccagtagcGctcacactttttctgttgca	6	13	8	14	1	3	0	2	0	1	0	4	0	4	0	2	1	3	5	2	1	1	4	rs115552198	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:114399229G>A	ENST00000359785.5	-	6	556	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000525799.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.R141C|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R141C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	141	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGTAGCGCTCACACTTT	0.438													G|||	6	0.00119808	0.0045	0	5008	,	,		18441	0		0	False		,,,				2504	0					uc001eds.3																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(421-423)Cgc>Tgc		Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	8,4398	14.3+/-33.2	0,8,2195	108	101	103		421,421,421	5.7	1	1	dbSNP_132	103	0,8600		0,0,4300	yes	missense,missense,missense	PTPN22	NM_001193431.1,NM_012411.4,NM_015967.5	180,180,180	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging,probably-damaging,probably-damaging	141/780,141/753,141/808	114399229	8,12998	2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114399229G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.421C>T	1.37:g.114399229G>A	ENSP00000352833:p.Arg141Cys					LOC100287722_uc001edv.1_5'Flank|PTPN22_uc021orx.1_Missense_Mutation_p.R141C|PTPN22_uc009wgq.3_Missense_Mutation_p.R141C|PTPN22_uc021ory.1_Intron|PTPN22_uc010owo.2_Intron|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R141C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.R141C	p.R141C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	551	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	141			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.421C>T	CCDS863.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	29.0	4.972155	0.92919	0.001816	0.0	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;T;D	0.84146	-1.81;2.67;-1.81	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;1.0;1.0	P;D;D;D	0.97110	0.808;1.0;0.999;0.999	D	0.93235	0.6621	10	0.87932	D	0	.	18.5057	0.90896	0.0:0.0:1.0:0.0	.	141;141;141;141	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	C	141	ENSP00000352833:R141C;ENSP00000435176:R141C;ENSP00000388229:R141C	ENSP00000346621:R141C	R	-	1	0	PTPN22	114200752	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.033000	0.76504	2.660000	0.90430	0.467000	0.42956	CGC		0.438	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		A	114399229	G	A	114399229	3	1	207	1	0	0	0	0	1	0	0	0	12787	1087	38	1	2089	1	PTPN22	1	114399229	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	111987831	114399229	134851392	2	14482											
DYSF	8291	broad.mit.edu	37	chr2	71801344	71801344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacaggcaggcggaggCggagggcgagggctgggagt	8	2	23	8	3	0	0	0	0	0	0	0	4	0	3	0	8	1	4	0	8	0	0	rs200637035	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:71801344C>T	ENST00000258104.3	+	30	3468	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	DYSF_ENST00000410041.1_Missense_Mutation_p.A1082V|DYSF_ENST00000409582.3_Missense_Mutation_p.A1081V|DYSF_ENST00000413539.2_Missense_Mutation_p.A1095V|DYSF_ENST00000409366.1_Missense_Mutation_p.A1065V|DYSF_ENST00000409744.1_Missense_Mutation_p.A1051V|DYSF_ENST00000409762.1_Missense_Mutation_p.A1081V|DYSF_ENST00000409651.1_Missense_Mutation_p.A1096V|DYSF_ENST00000429174.2_Missense_Mutation_p.A1064V|DYSF_ENST00000394120.2_Missense_Mutation_p.A1065V|DYSF_ENST00000410020.3_Missense_Mutation_p.A1082V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1064	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGCGGAGGCGGAGGGCGAG	0.662													C|||	2	0.000399361	8e-04	0	5008	,	,		15258	0.001		0	False		,,,				2504	0					uc010fen.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3244-3246)gCg>gTg		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							45	55	52					2																	71801344		2201	4292	6493	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801344C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3191C>T	2.37:g.71801344C>T	ENSP00000258104:p.Ala1064Val					DYSF_uc010fei.3_Missense_Mutation_p.A1081V|DYSF_uc010feh.3_Missense_Mutation_p.A1050V|DYSF_uc002sig.4_Missense_Mutation_p.A1050V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.A1095V|DYSF_uc010fee.3_Missense_Mutation_p.A1064V|DYSF_uc010fef.3_Missense_Mutation_p.A1081V|DYSF_uc002sie.3_Missense_Mutation_p.A1064V|DYSF_uc010feo.3_Missense_Mutation_p.A1096V|DYSF_uc010fej.3_Missense_Mutation_p.A1051V|DYSF_uc010fel.3_Missense_Mutation_p.A1051V|DYSF_uc010fem.3_Missense_Mutation_p.A1065V|DYSF_uc002sif.3_Missense_Mutation_p.A1065V|DYSF_uc010fek.3_Missense_Mutation_p.A1082V|DYSF_uc010yqy.2_5'Flank	p.A1082V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN			29	3386	+			1064			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3245C>T	CCDS1918.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.75	2.032211	0.35893	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.6	4.71	0.59529	.	0.510591	0.21739	N	0.069848	T	0.69771	0.3148	N	0.14661	0.345	0.21967	N	0.999449	P;P;P;P;P;P;P;B;P;P;P;P;P;P	0.50528	0.936;0.936;0.936;0.936;0.56;0.56;0.56;0.427;0.936;0.727;0.588;0.886;0.936;0.894	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.42462	0.388;0.388;0.388;0.388;0.216;0.145;0.216;0.145;0.388;0.145;0.294;0.388;0.388;0.217	T	0.63659	-0.6587	10	0.34782	T	0.22	-25.27	11.5137	0.50509	0.0:0.9139:0.0:0.0861	.	1096;1082;1065;1051;1082;1051;1081;1050;1095;1081;1064;1050;1065;1064	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1095;1081;1081;1064;1064;1096;1065;1051;1065;1082;1082	ENSP00000407046:A1095V;ENSP00000387137:A1081V;ENSP00000386547:A1081V;ENSP00000398305:A1064V;ENSP00000258104:A1064V;ENSP00000386683:A1096V;ENSP00000377678:A1065V;ENSP00000386285:A1051V;ENSP00000386512:A1065V;ENSP00000386881:A1082V;ENSP00000386617:A1082V	ENSP00000258104:A1064V	A	+	2	0	DYSF	71654852	0.194000	0.23325	0.941000	0.38009	0.231000	0.25187	1.367000	0.34204	2.627000	0.88993	0.650000	0.86243	GCG		0.662	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71801344	C	T	71801344	3	4	207	1	0	0	0	0	1	0	0	0	4859	768	27	1	3501	1	DYSF	2	71801344	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		71801344	171398029	3	14483											
SLC9A4	389015	broad.mit.edu	37	chr2	103095611	103095611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctttggcctgggcgaCgtcaacctgctgcagaacct	8	8	12	13	2	1	1	1	0	0	1	1	2	1	1	4	3	4	2	4	3	3	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:103095611C>T	ENST00000295269.4	+	2	1027	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	190					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.D190D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTGGGCGACGTCAACCTGC	0.632																																						uc002tbz.4																			1	Substitution - coding silent(1)	p.D190D(2)	endometrium(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(568-570)gaC>gaT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.							44	40	41					2																	103095611		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095611C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.570C>T	2.37:g.103095611C>T							p.D190D	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	1027	+			190					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.570C>T	CCDS33264.1																																																																																				0.632	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103095611	C	T	103095611	2	4	207	1	0	0	0	0	0	0	0	1	14716	535	19	1		1	SLC9A4	2	103095611	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	31294267	103095611	140103762	4	14484											
DPP10	57628	broad.mit.edu	37	chr2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaagtagaggactccGtcttgcagtacgcggcctgg	8	8	13	12	3	1	2	0	0	1	2	3	3	3	3	3	3	2	3	3	3	3	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:116447456G>A	ENST00000410059.1	+	7	1015	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	DPP10_ENST00000409163.1_Missense_Mutation_p.V129I|DPP10_ENST00000393147.2_Missense_Mutation_p.V183I|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.V172I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(547-549)Gtc>Atc		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							84	91	89					2																	116447456		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116447456G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.535G>A	2.37:g.116447456G>A	ENSP00000386565:p.Val179Ile					DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	p.V183I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			6	568	+			179					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.547G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164856	0.38217	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	-2.02	0.07388	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.22859	0.0552	L	0.55481	1.735	0.24648	N	0.993537	B;B;B;B	0.22800	0.027;0.075;0.034;0.034	B;B;B;B	0.20955	0.013;0.018;0.032;0.022	T	0.33650	-0.9860	10	0.15499	T	0.54	-12.1613	11.1686	0.48558	0.491:0.0:0.509:0.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	179;129;175;183;172;129	ENSP00000386565:V179I;ENSP00000387038:V129I;ENSP00000376854:V175I;ENSP00000376855:V183I;ENSP00000309066:V172I	ENSP00000309066:V172I	V	+	1	0	DPP10	116163926	0.323000	0.24643	0.908000	0.35775	0.965000	0.64279	0.668000	0.25127	-0.308000	0.08792	-0.237000	0.12165	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116447456	G	A	116447456	3	1	207	1	0	0	0	0	1	0	0	0	4727	1145	40	1	732	1	DPP10	2	116447456	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	13351845	116447456	126751917	5	14485											
ABCB11	8647	broad.mit.edu	37	chr2	169850255	169850255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaatcccaatgagaGggctgacagaaataataacc	15	7	8	11	0	0	3	0	2	0	2	2	4	2	3	3	1	2	2	3	1	5	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:169850255G>C	ENST00000263817.6	-	8	873	c.749C>G	c.(748-750)cCt>cGt	p.P250R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	250	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCAATGAGAGGGCTGACAGA	0.453																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(748-750)cCt>cGt		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						48	46	47					2																	169850255		1883	4116	5999	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169850255G>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.749C>G	2.37:g.169850255G>C	ENSP00000263817:p.Pro250Arg						p.P250R	NM_003742	NP_003733	O95342	ABCBB_HUMAN			7	875	-			250			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.749C>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804444	0.90623	.	.	ENSG00000073734	ENST00000263817	D	0.82167	-1.58	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95235	0.8346	10	0.87932	D	0	0.378	19.5082	0.95130	0.0:0.0:1.0:0.0	.	250	O95342	ABCBB_HUMAN	R	250	ENSP00000263817:P250R	ENSP00000263817:P250R	P	-	2	0	ABCB11	169558501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.604000	0.88044	0.650000	0.86243	CCT		0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169850255	G	C	169850255	3	2	207	1	0	0	0	0	1	0	0	0	42	1000	35	5	3300	5	ABCB11	2	169850255	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	53402799	169850255	73349118	6	14486											
FBLN2	2199	broad.mit.edu	37	chr3	13670777	13670777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagcgggatgcctttGgccggggctgcatcggtagg	4	10	17	10	3	1	0	1	0	0	0	2	1	1	1	2	6	3	4	2	6	1	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:13670777G>A	ENST00000295760.7	+	12	2755	c.2686G>A	c.(2686-2688)Ggc>Agc	p.G896S	FBLN2_ENST00000492059.1_Missense_Mutation_p.G943S|FBLN2_ENST00000404922.3_Missense_Mutation_p.G943S|FBLN2_ENST00000535798.1_Missense_Mutation_p.G922S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	896	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGATGCCTTTGGCCGGGGCTG	0.662																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2827-2829)Ggc>Agc		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							24	29	27					3																	13670777		2069	4200	6269	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670777G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2686G>A	3.37:g.13670777G>A	ENSP00000295760:p.Gly896Ser					FBLN2_uc011auz.2_Missense_Mutation_p.G922S|FBLN2_uc011avb.2_Missense_Mutation_p.G896S|FBLN2_uc011ava.2_Missense_Mutation_p.G943S	p.G943S	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		12	3209	+			938			EGF-like 8; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2827G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	3.181	-0.167876	0.06461	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.88664	-2.29;-2.27;-2.41;-2.27	4.91	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.175032	0.51477	D	0.000090	D	0.82568	0.5065	M	0.62209	1.925	0.34557	D	0.711924	B;P;P	0.46859	0.277;0.708;0.885	B;B;B	0.41374	0.164;0.227;0.355	T	0.80111	-0.1519	10	0.14252	T	0.57	.	4.1821	0.10380	0.534:0.0:0.466:0.0	.	896;943;922	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	922;943;896;943	ENSP00000445705:G922S;ENSP00000384169:G943S;ENSP00000295760:G896S;ENSP00000420042:G943S	ENSP00000295760:G896S	G	+	1	0	FBLN2	13645778	0.989000	0.36119	0.852000	0.33557	0.489000	0.33432	2.549000	0.45803	1.048000	0.40298	0.655000	0.94253	GGC		0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13670777	G	A	13670777	3	1	207	1	0	0	0	0	1	0	0	0	5699	1348	47	3	1563	3	FBLN2	3	13670777	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		13670777	184351653	7	14487											
TRAT1	50852	broad.mit.edu	37	chr3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactatgtggaaaagcaaCgacaaggtaagacattttga	16	8	9	8	1	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	6	4	rs148894492	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													C|||	2	0.000399361	8e-04	0	5008	,	,		16849	0		0.001	False		,,,				2504	0					uc003dxi.1																			0		p.R38Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(112-114)Cga>Tga		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	142	136	138		112	1.1	0.4	3	dbSNP_134	138	0,8600		0,0,4300	yes	stop-gained	TRAT1	NM_016388.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		38/187	108549621	1,13005	2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549621C>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.112C>T	3.37:g.108549621C>T	ENSP00000295756:p.Arg38*					TRAT1_uc010hpx.1_Intron	p.R38*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			1	256	+			38					Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.112C>T	CCDS33813.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.819018	0.96982	2.27E-4	0.0	ENSG00000163519	ENST00000295756	.	.	.	5.16	1.11	0.20524	.	0.444625	0.18520	N	0.138817	.	.	.	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9002	11.9934	0.53188	0.6059:0.3941:0.0:0.0	.	.	.	.	X	38	.	ENSP00000295756:R38X	R	+	1	2	TRAT1	110032311	0.346000	0.24844	0.413000	0.26509	0.880000	0.50808	0.102000	0.15272	0.015000	0.14971	0.591000	0.81541	CGA		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		T	108549621	C	T	108549621	4	4	207	1	0	0	0	0	0	1	0	0	16463	528	19	1	118	1	TRAT1	3	108549621	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	94878844	108549621	89472809	8	14488											
IFT80	57560	broad.mit.edu	37	chr3	160083930	160083930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccacgctactgaataCactggtgttcctgtaagatg	9	10	11	11	1	0	2	0	1	0	1	1	2	1	2	3	2	2	3	3	2	4	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:160083930C>T	ENST00000326448.7	-	6	882	c.450G>A	c.(448-450)gtG>gtA	p.V150V	IFT80_ENST00000483465.1_Silent_p.V13V|IFT80_ENST00000496589.1_Silent_p.V13V|RP11-432B6.3_ENST00000483754.1_Silent_p.V321V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	150					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTACTGAATACACTGGTGTTC	0.353																																						uc021xgr.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(448-450)gtG>gtA		Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.							107	106	107					3																	160083930		2203	4300	6503	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:160083930C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.450G>A	3.37:g.160083930C>T						IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.V13V|IFT80_uc021xgq.1_Silent_p.V148V|IFT80_uc003fde.2_Silent_p.V13V|IFT80_uc003fdd.2_Intron	p.V150V	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	496	-			150					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.450G>A	CCDS3188.1																																																																																				0.353	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		T	160083930	C	T	160083930	2	4	207	1	0	0	0	0	0	0	0	1	7564	465	17	3		3	IFT80	3	160083930	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	51534309	160083930	37938500	9	14489											
RBM47	54502	broad.mit.edu	37	chr4	40440481	40440481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccacgctgcagcacaCgccgagcaggcggcccgggc	6	4	15	16	5	0	0	0	0	0	0	1	1	1	0	3	3	3	5	3	3	0	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:40440481C>T	ENST00000381793.2	-	3	826	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	RBM47_ENST00000514014.1_Missense_Mutation_p.V106M|RBM47_ENST00000319592.4_Missense_Mutation_p.V144M|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.V144M|RBM47_ENST00000381795.6_Missense_Mutation_p.V144M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	144	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGCAGCACACGCCGAGCAGG	0.637																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(430-432)Gtg>Atg		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							43	38	40					4																	40440481		2203	4299	6502	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440481C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.430G>A	4.37:g.40440481C>T	ENSP00000371212:p.Val144Met					RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	p.V144M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1140	-			144			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.430G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577455	0.65878	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414	T;T;T;T;T;T;T;T	0.61859	2.72;0.07;2.72;0.07;0.07;2.72;0.07;0.07	5.57	5.57	0.84162	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89849	0.4008	10	0.87932	D	0	-22.293	19.5568	0.95354	0.0:1.0:0.0:0.0	.	144;144	A0AV96-2;A0AV96	.;RBM47_HUMAN	M	144;144;144;144;106;144;144;144	ENSP00000320108:V144M;ENSP00000371212:V144M;ENSP00000371214:V144M;ENSP00000295971:V144M;ENSP00000423243:V106M;ENSP00000422564:V144M;ENSP00000421589:V144M;ENSP00000423527:V144M	ENSP00000295971:V144M	V	-	1	0	RBM47	40135238	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	7.818000	0.86416	2.631000	0.89168	0.313000	0.20887	GTG		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440481	C	T	40440481	3	4	207	1	0	0	0	0	1	0	0	0	13141	536	19	1	1367	1	RBM47	4	40440481	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		40440481	150713795	10	14490											
LRRC66	339977	broad.mit.edu	37	chr4	52869513	52869513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctatttgcaatatcccaTtgaatgacagatccaaactc	14	11	4	12	0	0	3	0	2	0	1	3	3	2	3	3	0	2	1	3	0	5	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:52869513T>C	ENST00000343457.3	-	2	548	c.542A>G	c.(541-543)aAt>aGt	p.N181S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	181						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAATATCCCATTGAATGACAG	0.383																																						uc003gzi.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(541-543)aAt>aGt		Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.							166	152	157					4																	52869513		1858	4099	5957	SO:0001583	missense	339977					integral to membrane		g.chr4:52869513T>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.542A>G	4.37:g.52869513T>C	ENSP00000341944:p.Asn181Ser						p.N181S	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			1	549	-			181						Missense_Mutation	SNP	ENST00000343457.3	37	c.542A>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105922	0.37145	.	.	ENSG00000188993	ENST00000343457	T	0.67345	-0.26	5.44	4.27	0.50696	.	0.000000	0.52532	D	0.000067	D	0.82995	0.5158	M	0.91872	3.25	0.27723	N	0.945057	D	0.89917	1.0	D	0.76071	0.987	T	0.77081	-0.2720	10	0.87932	D	0	-28.5325	8.9574	0.35827	0.0:0.0839:0.0:0.9161	.	181	Q68CR7	LRC66_HUMAN	S	181	ENSP00000341944:N181S	ENSP00000341944:N181S	N	-	2	0	LRRC66	52564270	0.996000	0.38824	0.776000	0.31678	0.087000	0.18053	3.059000	0.49947	1.093000	0.41377	-0.250000	0.11733	AAT		0.383	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		C	52869513	T	C	52869513	3	2	207	1	0	0	0	0	1	0	0	0	9018	1493	52	4	2112	4	LRRC66	4	52869513	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08	12429032	52869513	138284763	11	14491											
SULT1B1	27284	broad.mit.edu	37	chr4	70596318	70596318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacttcaaatgaggtgtGatggatgatcctatccaaga	13	11	9	8	0	2	4	2	3	0	1	4	5	4	5	2	2	0	0	2	2	3	2	rs374341407		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:70596318G>A	ENST00000310613.3	-	7	976	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATGAGGTGTGATGGATGATC	0.378																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(679-681)Cac>Tac		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.		G	TYR/HIS	0,4406		0,0,2203	167	153	158		679	3.2	0.6	4		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	SULT1B1	NM_014465.3	83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	227/297	70596318	1,13005	2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596318G>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.679C>T	4.37:g.70596318G>A	ENSP00000308770:p.His227Tyr						p.H227Y	NM_014465	NP_055280	O43704	ST1B1_HUMAN			6	977	-			227					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.679C>T	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737354	0.49045	0.0	1.16E-4	ENSG00000173597	ENST00000310613	D	0.83755	-1.76	4.09	3.24	0.37175	Sulfotransferase domain (1);	0.128947	0.34750	N	0.003704	D	0.87557	0.6207	M	0.86420	2.815	0.37130	D	0.901239	P	0.49447	0.924	P	0.51355	0.667	D	0.89318	0.3638	10	0.62326	D	0.03	.	9.6753	0.40037	0.1058:0.0:0.8942:0.0	.	227	O43704	ST1B1_HUMAN	Y	227	ENSP00000308770:H227Y	ENSP00000308770:H227Y	H	-	1	0	SULT1B1	70630907	0.988000	0.35896	0.605000	0.28930	0.842000	0.47809	2.059000	0.41384	0.848000	0.35191	0.467000	0.42956	CAC		0.378	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		A	70596318	G	A	70596318	3	1	207	1	0	0	0	0	1	0	0	0	15373	1290	45	3	219	3	SULT1B1	4	70596318	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	17726805	70596318	120557958	12	14492											
C4orf40	401137	broad.mit.edu	37	chr4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttctttattttagagaCggttccccttcattggtgag	7	19	8	7	1	2	2	1	1	1	1	3	3	3	2	2	2	0	1	2	2	2	9	rs577881430	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:71021774C>T	ENST00000344526.5	+	2	244	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		19						extracellular vesicular exosome (GO:0070062)		p.R19W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													C|||	2	0.000399361	0	0	5008	,	,		14117	0		0	False		,,,				2504	0.002					uc003hfa.4																			1	Substitution - Missense(1)	p.R19W(2)	breast(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)Cgg>Tgg		Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.							36	38	37					4																	71021774		2197	4277	6474	SO:0001583	missense	401137					extracellular region		g.chr4:71021774C>T																												ENST00000344526.5:c.55C>T	4.37:g.71021774C>T	ENSP00000343172:p.Arg19Trp					C4orf40_uc003hfb.4_Missense_Mutation_p.R19W	p.R19W	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			2	128	+			19					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.55C>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118357	0.37339	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.53857	0.6;0.6	3.32	0.36	0.16097	.	.	.	.	.	T	0.49864	0.1582	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37478	-0.9704	9	0.72032	D	0.01	-1.7275	5.6024	0.17361	0.0:0.5813:0.0:0.4187	.	19	Q6MZM9	CD040_HUMAN	W	19	ENSP00000426249:R19W;ENSP00000343172:R19W	ENSP00000343172:R19W	R	+	1	2	C4orf40	71056363	0.006000	0.16342	0.004000	0.12327	0.030000	0.12068	-0.174000	0.09839	0.032000	0.15435	0.603000	0.83216	CGG		0.259	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			T	71021774	C	T	71021774	3	4	207	1	0	0	0	0	1	0	0	0	2269	527	19	1	61	1	C4orf40	4	71021774	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	425456	71021774	120132502	13	14493											
AFM	173	broad.mit.edu	37	chr4	74365901	74365901	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttacctttcacgcagacAtgtgtcaatctcagaatgag	12	13	7	9	1	3	3	3	1	1	2	4	3	3	3	1	0	1	1	1	0	4	4	rs149561663		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:74365901A>C	ENST00000226355.3	+	12	1696	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	535	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCACGCAGACATGTGTCAATC	0.393																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1603-1605)Atg>Ctg		Homo sapiens afamin (AFM), mRNA.							92	88	89					4																	74365901		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74365901A>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1603A>C	4.37:g.74365901A>C	ENSP00000226355:p.Met535Leu						p.M535L	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1634	+	Breast(15;0.00102)		535			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1603A>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	0.156	-1.086083	0.01873	.	.	ENSG00000079557	ENST00000226355	T	0.71461	-0.57	5.64	1.91	0.25777	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.704071	0.13436	N	0.388059	T	0.29716	0.0742	N	0.00778	-1.195	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34976	-0.9807	10	0.02654	T	1	.	3.5949	0.08002	0.1703:0.1782:0.0:0.6515	.	535	P43652	AFAM_HUMAN	L	535	ENSP00000226355:M535L	ENSP00000226355:M535L	M	+	1	0	AFM	74584765	0.994000	0.37717	0.235000	0.24058	0.063000	0.16089	1.148000	0.31614	0.103000	0.17682	-1.142000	0.01873	ATG		0.393	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			C	74365901	A	C	74365901	3	2	207	1	0	0	0	0	1	0	0	0	361	217	8	5	1649	5	AFM	4	74365901	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08	3344127	74365901	116788375	14	14494											
AGXT2L1	64850	broad.mit.edu	37	chr4	109667553	109667553	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaagatccatggacccAcctgttagaatcctatcaag	13	11	6	11	0	2	2	1	0	1	2	4	3	4	3	4	1	0	1	4	1	6	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:109667553A>G	ENST00000296486.3	-	11	1458		c.e11+1		ETNPPL_ENST00000510706.1_Splice_Site|ETNPPL_ENST00000411864.2_Splice_Site|ETNPPL_ENST00000512646.1_Splice_Site	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase							mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CCATGGACCCACCTGTTAGAA	0.413																																						uc003hzc.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25						c.e11+1		Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.							88	80	83					4																	109667553		2203	4300	6503	SO:0001630	splice_region_variant	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109667553A>G	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1303+1T>C	4.37:g.109667553A>G						AGXT2L1_uc010imc.3_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.2_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.2_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.2_Splice_Site_p.V377_splice	p.V435_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	11	1484	-			435					B7Z1Y0|E9PBY0|Q9H174	Splice_Site	SNP	ENST00000296486.3	37	c.1303_splice	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014247	0.35511	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5961	0.68407	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGXT2L1	109887002	1.000000	0.71417	0.877000	0.34402	0.101000	0.19017	9.132000	0.94455	1.832000	0.53329	0.528000	0.53228	.		0.413	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	Intron	G	109667553	A	G	109667553	5	3	207	1	0	0	0	0	0	0	1	0	406	173	6	4	206	4	AGXT2L1	4	109667553	Splice_Site	SNP	A	TCGA-28-2514-01A-02D-1494-08	35301652	109667553	81486723	15	14495											
SYNPO2	171024	broad.mit.edu	37	chr4	119948017	119948017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacaggcccgagctacCaaagggctccccaaatgcct	14	4	9	14	1	0	1	0	0	0	1	1	2	1	1	5	2	4	2	5	2	5	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119948017C>T	ENST00000429713.2	+	3	675	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q165*|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Nonsense_Mutation_p.Q165*	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	165						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCGAGCTACCAAAGGGCTCC	0.557																																						uc010inb.3																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(493-495)Caa>Taa		Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.							35	39	38					4																	119948017		2203	4300	6503	SO:0001587	stop_gained	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948017C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.493C>T	4.37:g.119948017C>T	ENSP00000395143:p.Gln165*					SYNPO2_uc010ina.3_Nonsense_Mutation_p.Q165*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.Q165*|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Nonsense_Mutation_p.Q93*	p.Q165*	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN			2	689	+			165					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	ENST00000429713.2	37	c.493C>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.844257|1.844257	0.32606|0.32606	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|.	.|.	.|.	4.22|4.22	3.37|3.37	0.38596|0.38596	.|.	.|1.118670	.|0.06924	.|N	.|0.809921	T|.	0.23965|.	0.0580|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31138|.	-0.9954|.	4|.	.|0.20046	.|T	.|0.44	2.2705|2.2705	5.901|5.901	0.18965|0.18965	0.2434:0.6537:0.0:0.1029|0.2434:0.6537:0.0:0.1029	.|.	.|.	.|.	.|.	L|X	116|165	.|.	.|ENSP00000306015:Q165X	P|Q	+|+	2|1	0|0	SYNPO2|SYNPO2	120167465|120167465	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.127000|0.127000	0.20565|0.20565	1.100000|1.100000	0.31025|0.31025	0.890000|0.890000	0.36211|0.36211	0.557000|0.557000	0.71058|0.71058	CCA|CAA		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119948017	C	T	119948017	4	4	207	1	0	0	0	0	0	1	0	0	15454	595	21	3	503	3	SYNPO2	4	119948017	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	10280464	119948017	71206259	16	14496											
CAMK4	814	broad.mit.edu	37	chr5	110818505	110818505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaattaattgttttggAtccaaagaaacggctgacta	16	11	8	6	1	0	3	0	1	0	2	1	4	1	4	1	2	1	2	1	2	6	5			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:110818505A>C	ENST00000282356.4	+	10	1249	c.851A>C	c.(850-852)gAt>gCt	p.D284A	CAMK4_ENST00000512453.1_Missense_Mutation_p.D284A|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTGTTTTGGATCCAAAGAAA	0.423																																						uc003kpf.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(850-852)gAt>gCt		Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.							86	88	87					5																	110818505		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110818505A>C	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.851A>C	5.37:g.110818505A>C	ENSP00000282356:p.Asp284Ala					CAMK4_uc010jbv.3_Missense_Mutation_p.D87A|CAMK4_uc003kpg.3_5'UTR	p.D284A	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	9	1086	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	284			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.851A>C	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708668	0.89018	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.57907	0.37;0.37	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.83556	0.0104	10	0.87932	D	0	.	15.1281	0.72497	1.0:0.0:0.0:0.0	.	284	Q16566	KCC4_HUMAN	A	284	ENSP00000422634:D284A;ENSP00000282356:D284A	ENSP00000282356:D284A	D	+	2	0	CAMK4	110846404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.840000	0.92125	1.964000	0.57103	0.460000	0.39030	GAT		0.423	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		C	110818505	A	C	110818505	3	2	207	1	0	0	0	0	1	0	0	0	2605	333	12	5	889	5	CAMK4	5	110818505	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08		110818505	70096755	17	14497											
PCDHB7	56129	broad.mit.edu	37	chr5	140553289	140553289	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaaagaattctcaaaacGtttcaaatcaatccaacatc	18	10	3	10	1	3	2	3	1	1	1	6	2	4	2	1	0	2	1	1	0	7	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:140553289G>T	ENST00000231137.3	+	1	1047	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAAACGTTTCAAATCA	0.418																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(871-873)acG>acT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							82	87	85					5																	140553289		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553289G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.873G>T	5.37:g.140553289G>T							p.T291T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1047	+			291			Cadherin 3.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.873G>T	CCDS4249.1																																																																																				0.418	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553289	G	T	140553289	2	4	207	1	0	0	0	0	0	0	0	1	11547	1132	40	5		5	PCDHB7	5	140553289	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08	29734784	140553289	40361971	18	14498											
KIAA1244	57221	broad.mit.edu	37	chr6	138559683	138559683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagcagctgtcaccagcGtagcataaacactgctgtgc	12	8	9	12	1	1	0	1	0	0	0	1	0	1	0	1	0	7	5	1	0	4	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:138559683G>A	ENST00000251691.4	+	6	624	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTCACCAGCGTAGCATAAAC	0.453																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(457-459)cGt>cAt		Homo sapiens KIAA1244 (KIAA1244), mRNA.							172	151	158					6																	138559683		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138559683G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.458G>A	6.37:g.138559683G>A	ENSP00000251691:p.Arg153His						p.R153H	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	5	629	+	Breast(32;0.135)		153						Missense_Mutation	SNP	ENST00000251691.4	37	c.458G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	35	5.555126	0.96514	.	.	ENSG00000112379	ENST00000251691	T	0.04970	3.52	5.54	5.54	0.83059	.	0.122444	0.56097	D	0.000026	T	0.13713	0.0332	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02282	-1.1183	10	0.46703	T	0.11	-17.0849	19.8424	0.96695	0.0:0.0:1.0:0.0	.	153	Q5TH69	BIG3_HUMAN	H	153	ENSP00000251691:R153H	ENSP00000251691:R153H	R	+	2	0	KIAA1244	138601376	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.464000	0.97655	2.764000	0.94973	0.655000	0.94253	CGT		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138559683	G	A	138559683	3	1	207	1	0	0	0	0	1	0	0	0	8217	1145	40	1	480	1	KIAA1244	6	138559683	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		138559683	32555384	19	14499											
RNASET2	8635	broad.mit.edu	37	chr6	167360227	167360227	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccttcacttttatcgggCctggaaattcaaatttaaaa	13	14	5	9	1	2	0	2	0	0	0	4	1	3	1	2	2	0	0	2	2	5	6			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:167360227C>T	ENST00000508775.1	-	4	723	c.204G>A	c.(202-204)tgG>tgA	p.W68*	RNASET2_ENST00000366855.6_Splice_Site_p.W30*|RP11-514O12.4_ENST00000507747.1_Splice_Site_p.G49D|RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000476238.2_Splice_Site_p.W68*	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	68					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTATCGGGCCTGGAAATTC	0.348																																						uc003qve.3																			0				large_intestine(4)|lung(4)	8						c.e4-1		Homo sapiens ribonuclease T2 (RNASET2), mRNA.							24	22	23					6																	167360227		2194	4287	6481	SO:0001630	splice_region_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167360227C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.204-1G>A	6.37:g.167360227C>T						RNASET2_uc003qvf.3_Splice_Site|RNASET2_uc003qvi.1_Intron	p.W68_splice	NM_003730	NP_003721	O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	4	611	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	68					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Nonsense_Mutation	SNP	ENST00000508775.1	37	c.204_splice	CCDS5295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.584401|5.584401	0.96578|0.96578	.|.	.|.	ENSG00000249141|ENSG00000026297	ENST00000507747|ENST00000366855;ENST00000508775;ENST00000476238;ENST00000478180;ENST00000310843;ENST00000425007	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.63581|.	0.2523|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69643|.	-0.5090|.	3|.	.|0.72032	.|D	.|0.01	.|.	14.4932|14.4932	0.67665|0.67665	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	49|30;68;68;68;68;68	.|.	.|ENSP00000308991:W68X	G|W	-|-	2|3	0|0	RP11-514O12.4|RNASET2	167280217|167280217	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.324000|0.324000	0.28378|0.28378	3.962000|3.962000	0.56766|0.56766	2.475000|2.475000	0.83589|0.83589	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.348	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730	Nonsense_Mutation	T	167360227	C	T	167360227	5	4	207	1	0	0	0	0	0	0	1	0	13418	753	26	3	590	3	RNASET2	6	167360227	Splice_Site	SNP	C	TCGA-28-2514-01A-02D-1494-08	28800544	167360227	3754840	20	14500											
ABCA13	154664	broad.mit.edu	37	chr7	48443394	48443394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgggcatgtcgaggacCgtggttctggatgagcccac	7	10	14	10	2	2	1	1	1	1	0	3	4	2	3	2	4	1	2	2	4	0	2	rs199785430		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:48443394C>T	ENST00000435803.1	+	39	12012	c.11988C>T	c.(11986-11988)acC>acT	p.T3996T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3996	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCGAGGACCGTGGTTCTGG	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		18070	0		0	False		,,,				2504	0					uc003toq.2																			0		p.R3996M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11986-11988)acC>acT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.		C		1,4021		0,1,2010	89	91	90		11988	-12	0.2	7		90	0,8338		0,0,4169	no	coding-synonymous	ABCA13	NM_152701.3		0,1,6179	TT,TC,CC		0.0,0.0249,0.0081		3996/5059	48443394	1,12359	2011	4169	6180	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443394C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11988C>T	7.37:g.48443394C>T						ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_Non-coding_Transcript	p.T3996T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			38	12012	+			3996			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11988C>T	CCDS47584.1																																																																																				0.572	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48443394	C	T	48443394	2	4	207	1	0	0	0	0	0	0	0	1	31	639	23	2		2	ABCA13	7	48443394	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		48443394	110695269	21	14501											
EIF4H	7458	broad.mit.edu	37	chr7	73601967	73601967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcagtgctggtggccatgGttcccgtagccagaaggagt	7	8	16	10	2	0	1	0	0	0	1	1	2	1	2	3	5	2	4	3	5	2	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:73601967G>T	ENST00000265753.8	+	2	225	c.86G>T	c.(85-87)gGt>gTt	p.G29V	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Missense_Mutation_p.G29V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	29					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GGTGGCCATGGTTCCCGTAGC	0.527																																						uc003uad.1																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(85-87)gGt>gTt		Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.							79	80	79					7																	73601967		2203	4300	6503	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73601967G>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.86G>T	7.37:g.73601967G>T	ENSP00000265753:p.Gly29Val					EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V	p.G29V	NM_022170	NP_071496	Q15056	IF4H_HUMAN			1	94	+			29					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.86G>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844990	0.91197	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.35605	1.3;1.34	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);	0.110134	0.64402	D	0.000010	T	0.56978	0.2022	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.50625	-0.8806	10	0.27082	T	0.32	-17.1233	17.3253	0.87245	0.0:0.0:1.0:0.0	.	29;29;29;29	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	V	29	ENSP00000265753:G29V;ENSP00000265754:G29V	ENSP00000265753:G29V	G	+	2	0	EIF4H	73239903	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.625000	0.83145	2.509000	0.84616	0.462000	0.41574	GGT		0.527	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		T	73601967	G	T	73601967	3	4	207	1	0	0	0	0	1	0	0	0	5039	1261	44	5	92	5	EIF4H	7	73601967	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	25158573	73601967	85536696	22	14502											
PILRA	29992	broad.mit.edu	37	chr7	99996939	99996939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttccaaaacacagaggagCcatatgagaatatcaggaat	17	7	8	9	0	1	2	1	1	0	2	2	5	2	4	3	2	2	0	3	2	6	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:99996939C>T	ENST00000198536.2	+	5	945	c.733C>T	c.(733-735)Cca>Tca	p.P245S	PILRA_ENST00000453419.1_Missense_Mutation_p.P172S|PILRA_ENST00000350573.2_Missense_Mutation_p.P172S|PILRA_ENST00000394000.2_Silent_p.S160S	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	245					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGAGGAGCCATATGAGAA	0.502																																						uc003uuo.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(733-735)Cca>Tca		Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.							121	102	108					7																	99996939		2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99996939C>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.733C>T	7.37:g.99996939C>T	ENSP00000198536:p.Pro245Ser					PILRA_uc011kjo.2_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	p.P245S	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			4	945	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		245					Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.733C>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	6.545	0.468909	0.12461	.	.	ENSG00000085514	ENST00000198536;ENST00000453419;ENST00000350573	T;T;T	0.37584	1.19;2.26;1.19	4.45	-0.559	0.11792	.	0.983377	0.08270	N	0.971581	T	0.19565	0.0470	.	.	.	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.003	B;B;B	0.13407	0.004;0.009;0.004	T	0.28038	-1.0056	8	.	.	.	.	4.3744	0.11263	0.4367:0.3685:0.1948:0.0	.	172;172;245	C9JJ79;Q9UKJ1-3;Q9UKJ1	.;.;PILRA_HUMAN	S	245;172;172	ENSP00000198536:P245S;ENSP00000390026:P172S;ENSP00000340109:P172S	.	P	+	1	0	PILRA	99834875	0.031000	0.19500	0.037000	0.18230	0.078000	0.17371	-0.290000	0.08354	-0.086000	0.12550	-0.262000	0.10625	CCA		0.502	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		T	99996939	C	T	99996939	3	4	207	1	0	0	0	0	1	0	0	0	11925	739	26	3	751	3	PILRA	7	99996939	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	26394972	99996939	59141724	23	14503											
GRM8	2918	broad.mit.edu	37	chr7	126249517	126249517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacgtccaggagcatctcCgttttcattaaaagtgacag	13	11	8	9	2	2	1	1	1	1	0	4	2	3	2	2	1	2	2	2	1	3	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:126249517C>T	ENST00000339582.2	-	8	2201	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	GRM8_ENST00000405249.1_Silent_p.T488T|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.G465R|GRM8_ENST00000358373.3_Missense_Mutation_p.G465R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	465					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGAGCATCTCCGTTTTCATTA	0.378										HNSCC(24;0.065)																												uc003vlr.2																			0		p.G465E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1393-1395)Gga>Aga		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						141	121	128					7																	126249517		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126249517C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1393G>A	7.37:g.126249517C>T	ENSP00000344173:p.Gly465Arg	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_Non-coding_Transcript	p.G465R	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1704	-		Prostate(267;0.186)	465					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1393G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259597	0.95368	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91894	-2.93;-2.93;-2.93	5.45	5.45	0.79879	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.975;0.999	D	0.98683	1.0693	10	0.87932	D	0	.	18.2877	0.90119	0.0:1.0:0.0:0.0	.	465;465	O00222-2;O00222	.;GRM8_HUMAN	R	465	ENSP00000344173:G465R;ENSP00000409790:G465R;ENSP00000351142:G465R	ENSP00000344173:G465R	G	-	1	0	GRM8	126036753	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.792000	0.85828	2.535000	0.85469	0.563000	0.77884	GGA		0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126249517	C	T	126249517	3	4	207	1	0	0	0	0	1	0	0	0	6803	661	23	2	1399	2	GRM8	7	126249517	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	26252578	126249517	32889146	24	14504											
IDO1	3620	broad.mit.edu	37	chr8	39782809	39782809	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggaagacccaaaggagTttgcagggggcagtgcaggc	10	6	17	8	0	1	1	0	0	1	1	1	3	1	3	1	5	2	4	1	5	2	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:39782809T>A	ENST00000518237.1	+	9	1414	c.775T>A	c.(775-777)Ttt>Att	p.F259I	IDO1_ENST00000522495.1_Missense_Mutation_p.F259I|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	259					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CCCAAAGGAGTTTGCAGGGGG	0.507																																						uc003xnm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(775-777)Ttt>Att		Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	L-Tryptophan(DB00150)						41	45	44					8																	39782809		1917	4128	6045	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39782809T>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.775T>A	8.37:g.39782809T>A	ENSP00000430950:p.Phe259Ile						p.F259I	NM_002164	NP_002155	P14902	I23O1_HUMAN			8	889	+			259					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.775T>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088457	0.55968	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.52983	0.64;0.64	5.55	5.55	0.83447	.	0.305617	0.30809	N	0.008824	T	0.71039	0.3293	M	0.87547	2.89	0.22389	N	0.999143	D	0.71674	0.998	D	0.68483	0.958	T	0.68081	-0.5503	9	.	.	.	-17.4924	13.6954	0.62575	0.0:0.0:0.0:1.0	.	259	P14902	I23O1_HUMAN	I	259	ENSP00000430505:F259I;ENSP00000430950:F259I	.	F	+	1	0	IDO1	39901966	0.359000	0.24955	0.008000	0.14137	0.010000	0.07245	4.358000	0.59442	2.333000	0.79357	0.533000	0.62120	TTT		0.507	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		A	39782809	T	A	39782809	3	1	207	1	0	0	0	0	1	0	0	0	7501	1725	60	5	809	5	IDO1	8	39782809	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08		39782809	106581213	25	14505											
RAD21	5885	broad.mit.edu	37	chr8	117875483	117875483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagagatgtcctgatgtccGtaatgccattttcacctatg	10	14	8	9	1	1	2	1	1	0	1	3	3	3	2	4	0	1	1	4	0	3	5			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:117875483G>A	ENST00000297338.2	-	3	447	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	54					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTGATGTCCGTAATGCCATT	0.348																																						uc003yod.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(160-162)Cgg>Tgg		Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.							143	138	140					8																	117875483		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117875483G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.160C>T	8.37:g.117875483G>A	ENSP00000297338:p.Arg54Trp						p.R54W	NM_006265	NP_006256	O60216	RAD21_HUMAN			2	448	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		54					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.160C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140828	0.94560	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.51	5.51	0.81932	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89259	0.3596	10	0.87932	D	0	-4.9969	19.4192	0.94713	0.0:0.0:1.0:0.0	.	54	O60216	RAD21_HUMAN	W	54	ENSP00000297338:R54W;ENSP00000429342:R54W;ENSP00000427923:R54W;ENSP00000430524:R54W;ENSP00000428158:R54W	ENSP00000297338:R54W	R	-	1	2	RAD21	117944664	1.000000	0.71417	0.979000	0.43373	0.974000	0.67602	6.563000	0.73964	2.586000	0.87340	0.650000	0.86243	CGG		0.348	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		A	117875483	G	A	117875483	3	1	207	1	0	0	0	0	1	0	0	0	12981	1144	40	1	1783	1	RAD21	8	117875483	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	78092674	117875483	28488539	26	14506											
PALM2	114299	broad.mit.edu	37	chr9	112686091	112686091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaatcatcctagagaaaCtgaaggaaacagaaaaatcc	21	5	7	8	0	1	3	1	1	0	2	3	5	3	4	2	1	3	1	2	1	7	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr9:112686091C>T	ENST00000374531.2	+	5	414	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	PALM2_ENST00000314527.4_Silent_p.L112L|PALM2_ENST00000483909.1_Silent_p.L112L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L112L|AKAP2_ENST00000510514.5_Silent_p.L112L|PALM2_ENST00000448454.2_Silent_p.L114L|PALM2-AKAP2_ENST00000374530.3_Silent_p.L112L|AKAP2_ENST00000555236.1_Silent_p.L112L	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	114					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCTAGAGAAACTGAAGGAAAC	0.403																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(334-336)Ctg>Ttg		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							68	65	66					9																	112686091		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112686091C>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.340C>T	9.37:g.112686091C>T						PALM2-AKAP2_uc004beg.3_Silent_p.L114L|PALM2-AKAP2_uc004beh.4_Silent_p.L112L|PALM2-AKAP2_uc004bej.4_Silent_p.L112L|PALM2-AKAP2_uc004bek.4_Silent_p.L112L|PALM2-AKAP2_uc004bel.1_5'UTR	p.L112L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			3	526	+			0					A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.334C>T	CCDS35099.1																																																																																				0.403	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		T	112686091	C	T	112686091	2	4	207	1	0	0	0	0	0	0	0	1	11409	564	20	3		3	PALM2	9	112686091	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		112686091	28527340	27	14507											
SUV39H2	79723	broad.mit.edu	37	chr10	14938880	14938880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtaaaatggaaaggatgGccagattctacaaatacttg	15	11	9	6	0	1	1	0	0	1	1	1	3	1	3	1	3	2	1	1	3	6	6			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:14938880G>T	ENST00000354919.6	+	3	213	c.213G>T	c.(211-213)tgG>tgT	p.W71C	SUV39H2_ENST00000378325.3_Missense_Mutation_p.W71C|SUV39H2_ENST00000313519.5_Missense_Mutation_p.W11C	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	71	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GGAAAGGATGGCCAGATTCTA	0.323																																						uc021png.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(211-213)tgG>tgT		Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.							68	76	73					10																	14938880		2203	4299	6502	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14938880G>T	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.213G>T	10.37:g.14938880G>T	ENSP00000346997:p.Trp71Cys					SUV39H2_uc001ing.3_Missense_Mutation_p.W71C|SUV39H2_uc001inh.3_Missense_Mutation_p.W11C|SUV39H2_uc001ini.3_Missense_Mutation_p.W11C|SUV39H2_uc021pnh.1_Missense_Mutation_p.W11C|SUV39H2_uc001inj.3_Missense_Mutation_p.W11C	p.W71C	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN			2	319	+			71			Chromo.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.213G>T	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279780	0.59758	.	.	ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519;ENST00000420416;ENST00000412254	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.86	5.86	0.93980	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84723	0.5535	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.77004	0.989;0.895	D	0.84921	0.0854	10	0.72032	D	0.01	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	71;71	Q9H5I1;Q9H5I1-3	SUV92_HUMAN;.	C	11;71;71;11;11;11	ENSP00000388968:W11C;ENSP00000367576:W71C;ENSP00000346997:W71C;ENSP00000319208:W11C;ENSP00000392201:W11C;ENSP00000388218:W11C	ENSP00000319208:W11C	W	+	3	0	SUV39H2	14978886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.338000	0.52128	2.937000	0.99478	0.650000	0.86243	TGG		0.323	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		T	14938880	G	T	14938880	3	4	207	1	0	0	0	0	1	0	0	0	15410	1212	42	5	35	5	SUV39H2	10	14938880	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		14938880	120595867	28	14508											
MKI67	4288	broad.mit.edu	37	chr10	129901939	129901947	+	In_Frame_Del	DEL	CTCTTTGTG	CTCTTTGTG	-																															gcacacgtgtcctgagatgcCtctttgtgcttgctgtggtg																								rs1050767|rs559804532	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:129901939_129901947delCTCTTTGTG	ENST00000368654.3	-	13	8532_8540	c.8157_8165delCACAAAGAG	c.(8155-8166)agcacaaagagg>agg	p.STK2719del	MKI67_ENST00000368653.3_In_Frame_Del_p.STK2359del	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2719	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGATGCCTCTTTGTGCTTGCTGTGG	0.483																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8155-8166)agcacaaagagg>agg		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901939_129901947delCTCTTTGTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8157_8165delCACAAAGAG	10.37:g.129901939_129901947delCTCTTTGTG	ENSP00000357643:p.Ser2719_Lys2721del					MKI67_uc001lkf.3_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del	p.STK2719del	NM_002417	NP_002408	P46013	KI67_HUMAN			12	8352_8360	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2719			16 X 122 AA approximate repeats.		Q5VWH2	In_Frame_Del	DEL	ENST00000368654.3	37	c.8157_8165delCACAAAGAG	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		-	129901947	CTCTTTGTG	-	129901939	7	5	207	1	0	1	0	1	0	0	0	0	9598	681	24	0	1617	0	MKI67	10	129901939	In_Frame_Del	DEL	CTCTTTGTG	TCGA-28-2514-01A-02D-1494-08	114963059	129901939	5632808	29	14509											
SYTL2	54843	broad.mit.edu	37	chr11	85445443	85445443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgctccttctcagaaattCtctcatggatggttaggcca	10	13	8	10	0	3	1	2	0	2	1	6	2	4	2	2	3	1	2	2	3	3	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:85445443C>T	ENST00000528231.1	-	6	1203	c.926G>A	c.(925-927)aGa>aAa	p.R309K	SYTL2_ENST00000316356.4_Missense_Mutation_p.R310K|SYTL2_ENST00000389960.4_Missense_Mutation_p.R309K|SYTL2_ENST00000527523.1_Missense_Mutation_p.R261K|SYTL2_ENST00000524452.1_Missense_Mutation_p.R309K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	309					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCAGAAATTCTCTCATGGAT	0.438																																						uc010rth.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(925-927)aGa>aAa		Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.							144	148	147					11																	85445443		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445443C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.926G>A	11.37:g.85445443C>T	ENSP00000431701:p.Arg309Lys					SYTL2_uc010rtg.2_Missense_Mutation_p.R310K|SYTL2_uc010rti.2_Missense_Mutation_p.R309K|SYTL2_uc010rtj.2_Missense_Mutation_p.R261K|SYTL2_uc001pbf.4_Missense_Mutation_p.R309K|SYTL2_uc010rtf.2_Missense_Mutation_p.R167K	p.R309K	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	5	1315	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	309					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.926G>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691634	0.15039	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26518	1.82;1.84;1.84;1.73;1.82	6.06	5.16	0.70880	.	.	.	.	.	T	0.24661	0.0598	L	0.51422	1.61	0.80722	D	1	B;B;B;B;P	0.37663	0.001;0.005;0.0;0.001;0.604	B;B;B;B;B	0.35859	0.004;0.009;0.001;0.004;0.212	T	0.02603	-1.1135	8	.	.	.	.	13.587	0.61937	0.0:0.9277:0.0:0.0723	.	261;309;309;310;167	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	K	309;310;309;261;309	ENSP00000374610:R309K;ENSP00000318803:R310K;ENSP00000431701:R309K;ENSP00000434010:R261K;ENSP00000435238:R309K	.	R	-	2	0	SYTL2	85123091	0.970000	0.33590	1.000000	0.80357	0.989000	0.77384	1.249000	0.32839	1.581000	0.49865	-0.143000	0.13931	AGA		0.438	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85445443	C	T	85445443	3	4	207	1	0	0	0	0	1	0	0	0	15480	913	32	3	4411	3	SYTL2	11	85445443	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		85445443	49561073	30	14510											
PDZD3	79849	broad.mit.edu	37	chr11	119058000	119058000	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacgccgcatccgggccAgcagccctcgggtgttgctg	4	8	15	14	4	0	0	0	0	0	0	2	0	1	0	4	3	4	5	4	3	1	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:119058000A>T	ENST00000531114.1	+	3	1099	c.550A>T	c.(550-552)Agc>Tgc	p.S184C	PDZD3_ENST00000525131.1_Missense_Mutation_p.S105C|PDZD3_ENST00000392817.2_Missense_Mutation_p.S184C|PDZD3_ENST00000322712.4_Missense_Mutation_p.S118C|PDZD3_ENST00000355547.5_Missense_Mutation_p.S118C			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CATCCGGGCCAGCAGCCCTCG	0.632																																						uc001pwb.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(550-552)Agc>Tgc		Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.							19	18	18					11																	119058000		2200	4292	6492	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119058000A>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.550A>T	11.37:g.119058000A>T	ENSP00000431164:p.Ser184Cys					PDZD3_uc001pvz.3_Missense_Mutation_p.S118C|PDZD3_uc010rzd.2_Missense_Mutation_p.S105C|PDZD3_uc001pvy.3_Missense_Mutation_p.S118C|PDZD3_uc001pwa.3_5'UTR	p.S184C			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	2	1074	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	184			PDZ 1.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.550A>T		.	.	.	.	.	.	.	.	.	.	A	25.1	4.603880	0.87157	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.46063	1.53;0.88;1.53;1.53;0.88	5.66	5.66	0.87406	PDZ/DHR/GLGF (4);	0.044283	0.85682	D	0.000000	T	0.60038	0.2238	L	0.58583	1.82	0.52501	D	0.999954	D;D;D;D	0.63880	0.988;0.972;0.991;0.993	D;P;P;D	0.68192	0.956;0.851;0.881;0.928	T	0.62821	-0.6773	10	0.72032	D	0.01	-23.0712	14.4646	0.67475	1.0:0.0:0.0:0.0	.	105;184;118;118	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	C	105;184;118;118;118;184	ENSP00000434559:S105C;ENSP00000431164:S184C;ENSP00000347742:S118C;ENSP00000327107:S118C;ENSP00000376564:S184C	ENSP00000327107:S118C	S	+	1	0	PDZD3	118563210	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	4.518000	0.60510	2.155000	0.67459	0.533000	0.62120	AGC		0.632	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		T	119058000	A	T	119058000	3	4	207	1	0	0	0	0	1	0	0	0	11702	188	7	5	370	5	PDZD3	11	119058000	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08	33612557	119058000	15948516	31	14511											
PRIM1	5557	broad.mit.edu	37	chr12	57140741	57140741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacatcgtcatagtctgTcatgtcaatgtcaaatacca	12	12	5	12	1	6	0	5	0	1	0	7	0	6	0	2	0	1	0	2	0	4	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:57140741T>C	ENST00000338193.6	-	3	373	c.337A>G	c.(337-339)Aca>Gca	p.T113A	PRIM1_ENST00000552408.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	113					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TCATAGTCTGTCATGTCAATG	0.428																																						uc001smd.3																			0				kidney(1)|lung(6)|prostate(1)	8						c.(337-339)Aca>Gca		Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.							222	202	209					12																	57140741		2106	4228	6334	SO:0001583	missense	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57140741T>C	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.337A>G	12.37:g.57140741T>C	ENSP00000350491:p.Thr113Ala						p.T113A	NM_000946	NP_000937	P49642	PRI1_HUMAN			2	401	-			113						Missense_Mutation	SNP	ENST00000338193.6	37	c.337A>G	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056073	0.93793	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.47869	0.83;0.83	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.976;0.991	T	0.78422	-0.2210	10	0.46703	T	0.11	-16.7451	14.1129	0.65134	0.0:0.0:0.0:1.0	.	113;113	F8VSB2;P49642	.;PRI1_HUMAN	A	113;113;116	ENSP00000350491:T113A;ENSP00000450185:T116A	ENSP00000350491:T113A	T	-	1	0	PRIM1	55427008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.515000	0.81761	2.231000	0.72958	0.529000	0.55759	ACA		0.428	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		C	57140741	T	C	57140741	3	2	207	1	0	0	0	0	1	0	0	0	12490	1667	58	4	969	4	PRIM1	12	57140741	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08		57140741	76711154	32	14512											
IL26	55801	broad.mit.edu	37	chr12	68619487	68619487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcttggcaatggcaagaGacagagtgactaacagcaac	14	7	12	8	0	0	3	0	1	0	2	0	4	0	3	0	2	4	4	0	2	4	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:68619487G>C	ENST00000229134.4	-	1	114	c.50C>G	c.(49-51)tCt>tGt	p.S17C	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	17					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		AATGGCAAGAGACAGAGTGAC	0.478																																						uc001stx.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(49-51)tCt>tGt		Homo sapiens interleukin 26 (IL26), mRNA.							273	236	249					12																	68619487		2203	4300	6503	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619487G>C	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.50C>G	12.37:g.68619487G>C	ENSP00000229134:p.Ser17Cys						p.S17C	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	0	85	-			17						Missense_Mutation	SNP	ENST00000229134.4	37	c.50C>G	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348963	0.11182	.	.	ENSG00000111536	ENST00000229134	T	0.69685	-0.42	4.54	1.51	0.23008	Four-helical cytokine, core (1);	0.359975	0.22323	N	0.061565	T	0.49949	0.1587	L	0.34521	1.04	0.09310	N	1	B	0.17852	0.024	B	0.20767	0.031	T	0.31336	-0.9947	9	.	.	.	.	8.2147	0.31505	0.0912:0.4592:0.4496:0.0	.	17	Q9NPH9	IL26_HUMAN	C	17	ENSP00000229134:S17C	.	S	-	2	0	IL26	66905754	0.993000	0.37304	0.205000	0.23548	0.721000	0.41392	0.756000	0.26419	0.185000	0.20105	0.462000	0.41574	TCT		0.478	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		C	68619487	G	C	68619487	3	2	207	1	0	0	0	0	1	0	0	0	7679	942	33	5	485	5	IL26	12	68619487	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	11478746	68619487	65232408	33	14513											
MIPEP	4285	broad.mit.edu	37	chr13	24448985	24448985	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagcagaaagatgtacCttttctttgtctagatggat	14	13	8	6	0	2	3	0	0	2	3	2	4	2	4	1	1	3	2	1	1	5	5			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:24448985C>T	ENST00000382172.3	-	5	701	c.603G>A	c.(601-603)aaG>aaA	p.K201K		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	201					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAAGATGTACCTTTTCTTTGT	0.333																																						uc001uox.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.e5+1		Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.							126	132	130					13																	24448985		2203	4300	6503	SO:0001630	splice_region_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24448985C>T		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.603+1G>A	13.37:g.24448985C>T							p.K201_splice	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	5	731	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	201					Q5JV15|Q5T9Q9|Q96G65	Silent	SNP	ENST00000382172.3	37	c.603_splice	CCDS9303.1																																																																																				0.333	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		Silent	T	24448985	C	T	24448985	5	4	207	1	0	0	0	0	0	0	1	0	9592	695	24	3	1598	3	MIPEP	13	24448985	Splice_Site	SNP	C	TCGA-28-2514-01A-02D-1494-08		24448985	90720893	34	14514											
ERCC5	2073	broad.mit.edu	37	chr13	103520596	103520596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcatggcctggaacctctCctaaaattctcgtaaggtct	9	11	10	11	1	3	0	0	0	3	0	5	1	3	1	3	4	1	2	3	4	4	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:103520596C>T	ENST00000355739.4	+	12	4090	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P1315S|ERCC5_ENST00000375954.1_Silent_p.L122L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	889					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGAACCTCTCCTAAAATTCT	0.373			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpu.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"			E					0											c.(4027-4029)ctC>ctT		Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.							73	78	77					13																	103520596		2203	4300	6503	SO:0001819	synonymous_variant	2073		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103520596C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2667C>T	13.37:g.103520596C>T						BIVM-ERCC5_uc001vpw.3_Silent_p.L889L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.L721L	p.L1343L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN			19	4151	+			1314					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	c.4029C>T	CCDS32004.1																																																																																				0.373	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103520596	C	T	103520596	2	4	207	1	0	0	0	0	0	0	0	1	5216	842	30	3		3	ERCC5	13	103520596	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	79071611	103520596	11649282	35	14515											
ARHGEF7	8874	broad.mit.edu	37	chr13	111896312	111896315	+	Splice_Site	DEL	AAGT	AAGT	-																															ggccattgcagaccagtgagAagtaagttagatgataaatt																										TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:111896312_111896315delAAGT	ENST00000375741.2	+	8	1166_1167	c.916_917delAAGT	c.(916-918)aag>g	p.K306fs	ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000426073.2_Splice_Site_p.K128fs|ARHGEF7_ENST00000375736.4_Splice_Site_p.K128fs|ARHGEF7_ENST00000478679.1_Splice_Site_p.K50fs|ARHGEF7_ENST00000375737.5_Splice_Site_p.K203fs|ARHGEF7_ENST00000375723.1_Splice_Site_p.K128fs|ARHGEF7_ENST00000218789.5_Splice_Site_p.K128fs|ARHGEF7_ENST00000370623.3_Splice_Site_p.K213fs|ARHGEF7_ENST00000375739.2_Splice_Site_p.K256fs|ARHGEF7_ENST00000317133.5_Splice_Site_p.K285fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	306	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACCAGTGAGAAGTAAGTTAGATG	0.324																																						uc001vrs.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.e8+1		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.																																				SO:0001630	splice_region_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111896312_111896315delAAGT	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.917+1AAGT>-	13.37:g.111896316_111896319delAAGT						ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.4_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.2_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice	p.K306_splice	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		8	1167	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		306			DH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Splice_Site	DEL	ENST00000375741.2	37	c.917_splice	CCDS45068.1																																																																																				0.324	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	Frame_Shift_Del	-	111896315	AAGT	-	111896312	8	5	207	1	0	1	0	1	0	0	1	0	911	260	9	0	946	0	ARHGEF7	13	111896312	Splice_Site	DEL	AAGT	TCGA-28-2514-01A-02D-1494-08	8375716	111896312	3273566	36	14516											
DLK1	8788	broad.mit.edu	37	chr14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtcaagaagcgcgCgctgagcccccagcaggtca	9	5	12	15	3	2	2	2	1	0	1	2	2	2	2	3	1	3	2	3	1	2	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr14:101200827C>T	ENST00000341267.4	+	5	988	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A249V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682																																						uc001yhs.4																			1	Substitution - Missense(1)	p.A249V(2)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(745-747)gCg>gTg		Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.																																				SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200827C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.746C>T	14.37:g.101200827C>T	ENSP00000340292:p.Ala249Val					DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	p.A249V	NM_003836	NP_003827	P80370	DLK1_HUMAN			4	950	+		Melanoma(154;0.155)	249					P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.746C>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392819	0.11638	.	.	ENSG00000185559	ENST00000341267	T	0.66460	-0.21	4.16	-1.84	0.07809	.	0.891322	0.09748	N	0.761040	T	0.39784	0.1091	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.17107	-1.0380	9	.	.	.	.	4.3444	0.11126	0.0:0.3449:0.3385:0.3166	.	249	P80370	DLK1_HUMAN	V	249	ENSP00000340292:A249V	.	A	+	2	0	DLK1	100270580	0.000000	0.05858	0.004000	0.12327	0.437000	0.31866	-1.865000	0.01649	-0.248000	0.09583	0.491000	0.48974	GCG		0.682	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			T	101200827	C	T	101200827	3	4	207	1	0	0	0	0	1	0	0	0	4564	768	27	1	764	1	DLK1	14	101200827	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		101200827	6148713	37	14517											
SIN3A	25942	broad.mit.edu	37	chr15	75693090	75693090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttacagagaggagtcCgtcctgtacacttgggctgc	7	11	11	12	1	1	1	0	0	1	1	3	3	3	2	3	2	3	2	3	2	2	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr15:75693090C>T	ENST00000394947.3	-	11	2032	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	SIN3A_ENST00000394949.4_Missense_Mutation_p.R573Q|SIN3A_ENST00000360439.4_Missense_Mutation_p.R573Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGAGGAGTCCGTCCTGTACA	0.493																																						uc002bai.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(1717-1719)cGg>cAg		Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.							85	73	77					15																	75693090		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75693090C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1718G>A	15.37:g.75693090C>T	ENSP00000378402:p.Arg573Gln					SIN3A_uc002baj.3_Missense_Mutation_p.R573Q|SIN3A_uc010uml.2_Missense_Mutation_p.R573Q	p.R573Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			10	1977	-			573			Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.			Missense_Mutation	SNP	ENST00000394947.3	37	c.1718G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404920	0.96051	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.69435	-0.4;-0.4;-0.4	5.64	5.64	0.86602	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88643	0.3177	10	0.72032	D	0.01	-25.5019	18.7029	0.91627	0.0:1.0:0.0:0.0	.	573	Q96ST3	SIN3A_HUMAN	Q	573	ENSP00000378402:R573Q;ENSP00000378403:R573Q;ENSP00000353622:R573Q	ENSP00000353622:R573Q	R	-	2	0	SIN3A	73480143	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.817000	0.86213	2.656000	0.90262	0.460000	0.39030	CGG		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		T	75693090	C	T	75693090	3	4	207	1	0	0	0	0	1	0	0	0	14325	652	23	2	2147	2	SIN3A	15	75693090	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		75693090	26838302	38	14518											
PKD1	5310	broad.mit.edu	37	chr16	2156265	2156265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccgcagcagcagggcGtacaccagcggggcgccagc	8	1	16	16	5	0	0	0	0	0	0	0	0	0	0	3	3	6	4	3	3	1	1	rs377373905		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:2156265G>A	ENST00000262304.4	-	19	7738	c.7530C>T	c.(7528-7530)taC>taT	p.Y2510Y	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.Y2510Y	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2510	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGCAGGGCGTACACCAGCG	0.687													g|||	1	0.000199681	0	0	5008	,	,		17750	0		0	False		,,,				2504	0.001					uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7528-7530)taC>taT		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.			,	0,4336		0,0,2168	18	23	21		7530,7530	-6.3	0.1	16		21	1,8549		0,1,4274	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,1,6442	AA,AG,GG		0.0117,0.0,0.0078	,	2510/4303,2510/4304	2156265	1,12885	2168	4275	6443	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156265G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7530C>T	16.37:g.2156265G>A						TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	p.Y2510Y	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			18	7739	-			2510			REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7530C>T	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2156265	G	A	2156265	2	1	207	1	0	0	0	0	0	0	0	1	11963	1140	40	1		1	PKD1	16	2156265	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08		2156265	88198488	39	14519											
CREBBP	1387	broad.mit.edu	37	chr16	3779062	3779062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattcaggctcacgggggCcatctggctccccggggtcc	5	7	13	16	2	3	0	2	0	1	0	5	0	5	0	4	6	0	2	4	6	0	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:3779062C>T	ENST00000262367.5	-	31	6795	c.5986G>A	c.(5986-5988)Gcc>Acc	p.A1996T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A1958T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1996					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCACGGGGGCCATCTGGCTC	0.697			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(5986-5988)Gcc>Acc		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							15	16	15					16																	3779062		2182	4288	6470	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779062C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5986G>A	16.37:g.3779062C>T	ENSP00000262367:p.Ala1996Thr					CREBBP_uc002cvw.3_Missense_Mutation_p.A1958T	p.A1996T	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	6190	-		Ovarian(90;0.0266)	1996					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5986G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	9.970	1.225329	0.22457	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83163	-1.69;-1.61	5.11	3.04	0.35103	.	0.410734	0.22285	N	0.062071	T	0.67730	0.2924	N	0.24115	0.695	0.28763	N	0.900788	B;B	0.16166	0.016;0.016	B;B	0.16289	0.015;0.015	T	0.53927	-0.8369	10	0.16420	T	0.52	-6.7602	8.1573	0.31176	0.0:0.5137:0.3846:0.1017	.	2026;1996	Q4LE28;Q92793	.;CBP_HUMAN	T	1996;2026;1958;531	ENSP00000262367:A1996T;ENSP00000371502:A1958T	ENSP00000262367:A1996T	A	-	1	0	CREBBP	3719063	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.832000	0.48152	1.127000	0.42034	0.655000	0.94253	GCC		0.697	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		T	3779062	C	T	3779062	3	4	207	1	0	0	0	0	1	0	0	0	3861	739	26	3	1346	3	CREBBP	16	3779062	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	1622797	3779062	86575691	40	14520											
ANKS3	124401	broad.mit.edu	37	chr16	4755095	4755095	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggaaacgcgggccactcaCcatagcgaggccgtggggct	8	4	16	13	5	1	0	1	0	0	0	1	2	1	1	3	5	2	1	3	5	2	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:4755095C>T	ENST00000304283.4	-	8	1163		c.e8+1		ANKS3_ENST00000450067.2_Splice_Site|ANKS3_ENST00000585773.1_Splice_Site|ANKS3_ENST00000446014.2_Splice_Site	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCCACTCACCATAGCGAGG	0.597																																						uc002cxj.2																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.e8+1		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.							71	77	75					16																	4755095		2196	4299	6495	SO:0001630	splice_region_variant	124401							g.chr16:4755095C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.868+1G>A	16.37:g.4755095C>T						ANKS3_uc002cxi.2_Splice_Site_p.E217_splice|ANKS3_uc021tcj.1_Splice_Site_p.E161_splice|ANKS3_uc021tck.1_Splice_Site_p.E183_splice|ANKS3_uc002cxk.3_Splice_Site_p.E161_splice|ANKS3_uc010uxs.2_Splice_Site_p.E217_splice|ANKS3_uc002cxm.3_Splice_Site_p.E84_splice	p.E290_splice	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			8	1163	-			290					B4DWU4|D3DUE2|Q8TF25	Splice_Site	SNP	ENST00000304283.4	37	c.868_splice	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696655	0.48202	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5153	0.87771	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKS3	4695096	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	4.667000	0.61561	2.816000	0.96949	0.563000	0.77884	.		0.597	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	Intron	T	4755095	C	T	4755095	5	4	207	1	0	0	0	0	0	0	1	0	690	521	18	3	1141	3	ANKS3	16	4755095	Splice_Site	SNP	C	TCGA-28-2514-01A-02D-1494-08	976033	4755095	85599658	41	14521											
CNGB1	1258	broad.mit.edu	37	chr16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccggggcgcgggtgggtCggtggcggcctcctttgggt	0	9	21	11	6	0	0	0	0	0	0	3	0	2	0	3	8	0	0	3	8	0	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:57918280C>T	ENST00000251102.8	-	33	3604	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1176N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1182					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.D1182N(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - Missense(1)	p.D1182N(2)	urinary_tract(1)	breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3544-3546)Gac>Aac		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							15	17	16					16																	57918280		1896	4051	5947	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918280C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3544G>A	16.37:g.57918280C>T	ENSP00000251102:p.Asp1182Asn					CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	p.D1182N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			32	3609	-			1182					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3544G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695656	0.48202	.	.	ENSG00000070729	ENST00000251102	D	0.96396	-4.0	3.9	3.9	0.45041	.	1.976920	0.02372	N	0.077941	D	0.90219	0.6942	N	0.08118	0	0.42835	D	0.994038	P;P	0.47604	0.706;0.898	B;B	0.33339	0.162;0.107	T	0.82080	-0.0634	10	0.40728	T	0.16	.	11.5551	0.50743	0.0:1.0:0.0:0.0	.	554;1182	Q14028-2;Q14028	.;CNGB1_HUMAN	N	1182	ENSP00000251102:D1182N	ENSP00000251102:D1182N	D	-	1	0	CNGB1	56475781	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.503000	0.22610	2.161000	0.67846	0.609000	0.83330	GAC		0.721	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		T	57918280	C	T	57918280	3	4	207	1	0	0	0	0	1	0	0	0	3600	884	31	2	215	2	CNGB1	16	57918280	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	53163185	57918280	32436473	42	14522											
KRT39	390792	broad.mit.edu	37	chr17	39116542	39116542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttacatacttgccatccGagctctccagaaggctgcgg	9	11	9	12	2	1	1	0	0	1	1	3	2	2	1	3	2	5	2	3	2	3	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr17:39116542G>A	ENST00000355612.2	-	6	1243	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	403	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGCCATCCGAGCTCTCCAG	0.468																																						uc002hvo.1																			0		p.S403S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1207-1209)tCg>tTg		Homo sapiens keratin 39 (KRT39), mRNA.							107	96	100					17																	39116542		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116542G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1208C>T	17.37:g.39116542G>A	ENSP00000347823:p.Ser403Leu					KRT39_uc010wfm.1_Missense_Mutation_p.S136L	p.S403L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			5	1244	-		Breast(137;0.00043)|Ovarian(249;0.15)	403			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1208C>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019807	0.54576	.	.	ENSG00000196859	ENST00000355612	D	0.88896	-2.44	5.6	-5.78	0.02362	Filament (1);	1.289600	0.05720	N	0.597607	T	0.71584	0.3357	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.57106	-0.7868	10	0.52906	T	0.07	.	1.1034	0.01689	0.3161:0.2524:0.2886:0.143	.	403	Q6A163	K1C39_HUMAN	L	403	ENSP00000347823:S403L	ENSP00000347823:S403L	S	-	2	0	KRT39	36370068	0.000000	0.05858	0.003000	0.11579	0.611000	0.37282	-0.555000	0.05999	-0.952000	0.03649	-1.246000	0.01523	TCG		0.468	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		A	39116542	G	A	39116542	3	1	207	1	0	0	0	0	1	0	0	0	8476	1059	37	2	275	2	KRT39	17	39116542	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		39116542	42078668	43	14523											
ONECUT2	9480	broad.mit.edu	37	chr18	55103358	55103358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgagcatgtcctgcgactCgtctccgcctggcatgggca	6	9	12	14	3	1	1	0	1	1	0	4	2	2	1	3	2	2	3	3	2	0	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr18:55103358C>T	ENST00000491143.2	+	1	442	c.410C>T	c.(409-411)tCg>tTg	p.S137L	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	137					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCTGCGACTCGTCTCCGCCT	0.652																																						uc002lgo.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(409-411)tCg>tTg		Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.							44	49	47					18																	55103358		2203	4300	6503	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103358C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.410C>T	18.37:g.55103358C>T	ENSP00000419185:p.Ser137Leu						p.S137L	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	0	442	+		Colorectal(73;0.234)	137						Missense_Mutation	SNP	ENST00000491143.2	37	c.410C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449707	0.43531	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	.	0.270191	0.24289	U	0.039833	T	0.25457	0.0619	N	0.12182	0.205	0.33439	D	0.582146	B	0.30211	0.273	B	0.17722	0.019	T	0.34700	-0.9818	9	0.34782	T	0.22	.	11.3876	0.49796	0.0:1.0:0.0:0.0	.	137	O95948	ONEC2_HUMAN	L	118;137	.	ENSP00000262095:S137L	S	+	2	0	ONECUT2	53254356	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.418000	0.73341	1.133000	0.42147	0.305000	0.20034	TCG		0.652	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			T	55103358	C	T	55103358	3	4	207	1	0	0	0	0	1	0	0	0	10869	893	31	2	412	2	ONECUT2	18	55103358	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		55103358	22973890	44	14524											
APC2	10297	broad.mit.edu	37	chr19	1466495	1466496	+	Frame_Shift_Ins	INS	-	-	T																															cggcgcaagaggggccactcINStcgctgtcccgatgcagctc																										TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:1466495_1466496insT	ENST00000535453.1	+	14	4908_4909	c.3195_3196insT	c.(3196-3198)tcgfs	p.S1066fs	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Frame_Shift_Ins_p.S792fs|APC2_ENST00000233607.2_Frame_Shift_Ins_p.S1066fs			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGCCACTCTCGCTGTCCCG	0.683																																						uc002lsr.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3193-3198)ctctcgfs		Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.																																				SO:0001589	frameshift_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466495_1466496insT		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3196dupT	19.37:g.1466496_1466496dupT	ENSP00000442954:p.Ser1066fs					APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron	p.L1065fs	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3403_3404	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1065			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Frame_Shift_Ins	INS	ENST00000535453.1	37	c.3195_3196insT	CCDS12068.1																																																																																				0.683	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		T	1466496	-	T	1466495	7	5	207	1	0	1	1	0	0	0	0	0	764	900	32	0	3249	0	APC2	19	1466495	Frame_Shift_Ins	INS	-	TCGA-28-2514-01A-02D-1494-08		1466495	57662488	45	14525											
CELF5	60680	broad.mit.edu	37	chr19	3293345	3293345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctttgataacccggccagCgcccaggcagccatccaggc	9	5	11	16	2	0	1	0	1	0	0	1	1	1	1	5	3	4	2	5	3	1	2	rs372894450		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:3293345C>T	ENST00000292672.2	+	12	1396	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	453	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCCGGCCAGCGCCCAGGCAG	0.622																																						uc002lxm.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(1357-1359)agC>agT		Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.		C	,	2,4404	4.2+/-10.8	0,2,2201	87	76	80		,1359	2.7	1	19		80	0,8600		0,0,4300	no	utr-3,coding-synonymous	CELF5	NM_001172673.1,NM_021938.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	,453/486	3293345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3293345C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1359C>T	19.37:g.3293345C>T						CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	p.S453S	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			11	1396	+			453			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.1359C>T	CCDS12106.1																																																																																				0.622	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		T	3293345	C	T	3293345	2	4	207	1	0	0	0	0	0	0	0	1	3219	767	27	1		1	CELF5	19	3293345	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	1826850	3293345	55835638	46	14526											
TNFSF14	8740	broad.mit.edu	37	chr19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgcagtcgaaccaggcGttcatccagcacacggacga	12	5	10	14	5	2	0	2	0	0	0	4	3	3	1	2	2	2	3	2	2	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6664993G>A	ENST00000599359.1	-	5	1048	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNFSF14_ENST00000326176.9_Missense_Mutation_p.R187C|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187C			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.R223C(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612																																						uc002mfk.2																			1	Substitution - Missense(1)	p.R223C(2)	large_intestine(1)	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(667-669)Cgc>Tgc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.							185	152	163					19																	6664993		2203	4300	6503	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664993G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.667C>T	19.37:g.6664993G>A	ENSP00000469049:p.Arg223Cys					TNFSF14_uc002mfj.2_Missense_Mutation_p.R187C	p.R223C	NM_003807	NP_003798	O43557	TNF14_HUMAN			4	1049	-			223					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.667C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763719	0.31228	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.31510	1.49	4.46	-0.824	0.10812	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.337180	0.05076	N	0.482571	T	0.40743	0.1129	M	0.64997	1.995	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;P	0.54965	0.765;0.653	T	0.29701	-1.0003	10	0.66056	D	0.02	-15.216	3.0044	0.06024	0.089:0.2223:0.392:0.2967	.	223;187	O43557;O43557-2	TNF14_HUMAN;.	C	223;187	ENSP00000326940:R187C	ENSP00000245912:R223C	R	-	1	0	TNFSF14	6615993	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.442000	0.21628	0.021000	0.15133	0.561000	0.74099	CGC		0.612	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			A	6664993	G	A	6664993	3	1	207	1	0	0	0	0	1	0	0	0	16304	1145	40	1	59	1	TNFSF14	19	6664993	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	3371648	6664993	52463990	47	14527											
TNFSF14	8740	broad.mit.edu	37	chr19	6665273	6665273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccacaagggccccatcGtggtagctgaggcccctcag	8	6	13	14	1	1	2	1	2	0	0	2	2	1	2	5	3	1	2	5	3	2	1	rs147375196		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6665273G>A	ENST00000599359.1	-	5	768	c.387C>T	c.(385-387)caC>caT	p.H129H	TNFSF14_ENST00000326176.9_Silent_p.H93H|TNFSF14_ENST00000245912.3_Silent_p.H93H			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	129					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGCCCCATCGTGGTAGCTGA	0.647																																						uc002mfk.2																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(385-387)caC>caT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.		G	,	0,4396		0,0,2198	26	21	23		387,279	-9.7	0	19	dbSNP_134	23	1,8575		0,1,4287	no	coding-synonymous,coding-synonymous	TNFSF14	NM_003807.3,NM_172014.2	,	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	,	129/241,93/205	6665273	1,12971	2198	4288	6486	SO:0001819	synonymous_variant	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665273G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.387C>T	19.37:g.6665273G>A						TNFSF14_uc002mfj.2_Silent_p.H93H	p.H129H	NM_003807	NP_003798	O43557	TNF14_HUMAN			4	769	-			129					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.387C>T	CCDS12171.1																																																																																				0.647	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			A	6665273	G	A	6665273	2	1	207	1	0	0	0	0	0	0	0	1	16304	1136	40	1		1	TNFSF14	19	6665273	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08	280	6665273	52463710	48	14528											
LRRC8E	80131	broad.mit.edu	37	chr19	7964176	7964176	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtacaccatgtacatcCgacagacggtgctgaaagtg	11	9	10	11	2	0	2	0	1	0	1	2	3	2	2	3	1	3	3	3	1	3	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:7964176C>T	ENST00000306708.6	+	3	870	c.769C>T	c.(769-771)Cga>Tga	p.R257*	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CATGTACATCCGACAGACGGT	0.532																																						uc002mir.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(769-771)Cga>Tga		Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.							146	117	127					19																	7964176		2203	4300	6503	SO:0001587	stop_gained	80131					integral to membrane		g.chr19:7964176C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.769C>T	19.37:g.7964176C>T	ENSP00000306524:p.Arg257*						p.R257*	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			2	870	+			257					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Nonsense_Mutation	SNP	ENST00000306708.6	37	c.769C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415166	0.83449	.	.	ENSG00000171017	ENST00000306708	.	.	.	5.18	4.13	0.48395	.	0.062759	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8368	0.57777	0.1643:0.8357:0.0:0.0	.	.	.	.	X	257	.	ENSP00000306524:R257X	R	+	1	2	LRRC8E	7870176	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	3.870000	0.56070	1.393000	0.46605	0.650000	0.86243	CGA		0.532	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7964176	C	T	7964176	4	4	207	1	0	0	0	0	0	1	0	0	9025	644	23	2	775	2	LRRC8E	19	7964176	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	1298903	7964176	51164807	49	14529											
LDLR	3949	broad.mit.edu	37	chr19	11221368	11221368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacggcggctgttcccaCgtctgcaatgaccttaagat	11	9	9	12	3	1	2	0	1	1	1	2	2	2	2	2	2	3	3	2	2	4	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:11221368C>T	ENST00000558518.1	+	7	1168	c.981C>T	c.(979-981)caC>caT	p.H327H	LDLR_ENST00000545707.1_Silent_p.H200H|LDLR_ENST00000455727.2_Silent_p.H159H|LDLR_ENST00000558013.1_Silent_p.H327H|LDLR_ENST00000535915.1_Silent_p.H286H|LDLR_ENST00000557933.1_Silent_p.H327H	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	327	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.		H -> Y (in FH).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCTGTTCCCACGTCTGCAATG	0.627																																					GBM(18;201 575 7820 21545)	uc002mqk.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(979-981)caC>caT		Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						114	85	95					19																	11221368		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11221368C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.981C>T	19.37:g.11221368C>T						LDLR_uc010xlk.2_Silent_p.H327H|LDLR_uc010xll.2_Silent_p.H286H|LDLR_uc021upc.1_Silent_p.H206H|LDLR_uc010xln.2_Silent_p.H200H|LDLR_uc010xlo.2_Silent_p.H159H|LDLR_uc010xlm.2_Silent_p.H180H|LDLR_uc021upd.1_Silent_p.H64H	p.H327H	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	6	1168	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	327		H -> Y (in FH).	EGF-like 1.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.981C>T	CCDS12254.1																																																																																				0.627	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			T	11221368	C	T	11221368	2	4	207	1	0	0	0	0	0	0	0	1	8704	535	19	1		1	LDLR	19	11221368	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	3257192	11221368	47907615	50	14530											
FFAR2	2867	broad.mit.edu	37	chr19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcctccctgttgggaCgcagaggcaaagacacagca	11	5	13	12	1	0	2	0	0	0	2	2	3	2	3	2	3	1	5	2	3	1	1	rs574975926		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:35941517C>T	ENST00000599180.2	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	301					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567													C|||	1	0.000199681	0	0	5008	,	,		19039	0		0	False		,,,				2504	0.001				GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0		p.R301H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(901-903)Cgc>Tgc		Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.							76	76	76					19																	35941517		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941517C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.901C>T	19.37:g.35941517C>T	ENSP00000473159:p.Arg301Cys					FFAR2_uc010eea.3_Missense_Mutation_p.R301C	p.R301C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	981	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		301					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.901C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037193	0.35893	.	.	ENSG00000126262	ENST00000246549	T	0.69040	-0.37	4.85	-0.293	0.12835	.	0.444083	0.19863	N	0.104381	T	0.52041	0.1710	L	0.51422	1.61	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.41805	-0.9488	10	0.48119	T	0.1	-3.8436	3.8897	0.09113	0.1696:0.4716:0.0:0.3588	.	301	O15552	FFAR2_HUMAN	C	301	ENSP00000246549:R301C	ENSP00000246549:R301C	R	+	1	0	FFAR2	40633357	0.000000	0.05858	0.002000	0.10522	0.282000	0.26991	0.054000	0.14205	-0.091000	0.12440	0.563000	0.77884	CGC		0.567	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		T	35941517	C	T	35941517	3	4	207	1	0	0	0	0	1	0	0	0	5828	536	19	1	903	1	FFAR2	19	35941517	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	24720149	35941517	23187466	51	14531											
KIR2DS4	3811	broad.mit.edu	37	chr19	55351111	55351111	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttccgtgacgctccctaCgagtggtcaaactcgagtga	8	11	10	12	4	2	2	1	2	1	0	5	4	4	2	2	1	2	1	2	1	2	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55351111C>T	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACGCTCCCTACGAGTGGTCAA	0.562																																						uc002qhm.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(595-597)taC>taT		Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.							247	217	227					19																	55351111		2171	4160	6331	SO:0001627	intron_variant	3809				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55351111C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14578C>T	19.37:g.55351111C>T						KIR3DL2_uc010yfj.2_Missense_Mutation_p.T193M|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.T200M|KIR3DL2_uc002qhn.1_Intron	p.Y199Y	NM_012314	NP_036446	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	643	+			302			Ig-like C2-type 2.		O43473|Q14946|Q16541	Silent	SNP	ENST00000402254.2	37	c.597C>T																																																																																					0.562	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		T	55351111	C	T	55351111	1	4	207	0	1	0	0	0	0	0	0	0	8319	536	19	1		1	KIR2DS4	19	55351111	Intron	SNP	C	TCGA-28-2514-01A-02D-1494-08	19409594	55351111	3777872	52	14532											
NLRP2	55655	broad.mit.edu	37	chr19	55495082	55495082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgcgtctgaatcagaCgccgaggttgagaggtgaga	10	8	15	8	3	3	4	2	3	1	3	3	7	3	4	1	2	1	1	1	2	1	1	rs374613201		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55495082C>T	ENST00000543010.1	+	6	2159	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	NLRP2_ENST00000339757.7_Silent_p.D650D|NLRP2_ENST00000537859.1_Silent_p.D650D|NLRP2_ENST00000263437.6_Silent_p.D669D|NLRP2_ENST00000427260.2_Silent_p.D649D|NLRP2_ENST00000391721.4_Silent_p.D648D|NLRP2_ENST00000448584.2_Silent_p.D672D|NLRP2_ENST00000538819.1_Silent_p.D648D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	672					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGAATCAGACGCCGAGGTTG	0.507																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2014-2016)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.		C	,,,	1,4405	2.1+/-5.4	0,1,2202	53	51	52		2016,1950,1947,2016	-3.4	0	19		52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	672/1063,650/1041,649/1040,672/1063	55495082	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55495082C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2016C>T	19.37:g.55495082C>T						NLRP2_uc010yfp.2_Silent_p.D649D|NLRP2_uc002qij.3_Silent_p.D672D|NLRP2_uc010esp.3_Silent_p.D650D|NLRP2_uc010esn.3_Silent_p.D648D|NLRP2_uc010eso.3_Silent_p.D669D	p.D672D	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	5	2127	+			672					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2016C>T	CCDS12913.1																																																																																				0.507	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55495082	C	T	55495082	2	4	207	1	0	0	0	0	0	0	0	1	10477	535	19	1		1	NLRP2	19	55495082	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	143971	55495082	3633901	53	14533											
PTPRH	5794	broad.mit.edu	37	chr19	55693402	55693402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcagtctgcaccatcaaCggccgactctctctcatctt	8	11	5	17	2	6	0	3	0	4	0	8	1	6	0	3	1	2	1	3	1	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55693402C>T	ENST00000376350.3	-	19	3202	c.3180G>A	c.(3178-3180)ccG>ccA	p.P1060P	SYT5_ENST00000537500.1_5'Flank|PTPRH_ENST00000263434.5_Silent_p.P882P|SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1060	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCACCATCAACGGCCGACTCT	0.637																																						uc002qjq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3178-3180)ccG>ccA		Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.							122	118	119					19																	55693402		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693402C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3180G>A	19.37:g.55693402C>T						PTPRH_uc010esv.3_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.P1060P	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	18	3253	-		Renal(1328;0.245)	1060			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.3180G>A	CCDS33110.1																																																																																				0.637	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55693402	C	T	55693402	2	4	207	1	0	0	0	0	0	0	0	1	12803	523	19	1		1	PTPRH	19	55693402	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	198320	55693402	3435581	54	14534											
ZNF337	26152	broad.mit.edu	37	chr20	25666266	25666266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccccttgctctagccGcctgatgagttctggtttag	5	14	9	13	1	2	2	0	2	2	0	3	2	3	2	4	1	2	3	4	1	2	6			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:25666266G>A	ENST00000376436.1	-	3	726	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	ZNF337_ENST00000252979.5_Missense_Mutation_p.R63W|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000538750.1_Intron			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCTAGCCGCCTGATGAGT	0.577																																						uc002wva.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(187-189)Cgg>Tgg		Homo sapiens zinc finger protein 337 (ZNF337), mRNA.							132	134	133					20																	25666266		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25666266G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.187C>T	20.37:g.25666266G>A	ENSP00000365619:p.Arg63Trp					ZNF337_uc010ztg.2_Intron|ZNF337_uc002wvc.3_Missense_Mutation_p.R63W	p.R63W	NM_015655	NP_056470					2	709	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.187C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559239	0.45590	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.00816	5.66;5.66	1.85	1.85	0.25348	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.33137	0.985	0.09310	N	0.999999	D	0.69078	0.997	B	0.43701	0.428	T	0.55885	-0.8070	9	0.38643	T	0.18	.	5.3022	0.15783	0.0:0.0:0.6626:0.3374	.	63	Q9Y3M9	ZN337_HUMAN	W	63	ENSP00000365619:R63W;ENSP00000252979:R63W	ENSP00000252979:R63W	R	-	1	2	ZNF337	25614266	0.002000	0.14202	0.004000	0.12327	0.671000	0.39405	0.094000	0.15107	0.850000	0.35239	0.461000	0.40582	CGG		0.577	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			A	25666266	G	A	25666266	3	1	207	1	0	0	0	0	1	0	0	0	17850	1086	38	1	2076	1	ZNF337	20	25666266	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		25666266	37359254	55	14535											
STAU1	6780	broad.mit.edu	37	chr20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaagaacagctatggCggcatttttctttgaaatct	10	14	7	10	1	3	2	1	1	2	1	4	2	4	2	1	2	2	2	1	2	4	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:47741010C>T	ENST00000371856.2	-	7	1134	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_ENST00000360426.4_Missense_Mutation_p.A161T|STAU1_ENST00000371792.1_Missense_Mutation_p.A161T|STAU1_ENST00000371828.3_Missense_Mutation_p.A167T|STAU1_ENST00000371802.1_Missense_Mutation_p.A167T|STAU1_ENST00000347458.5_Missense_Mutation_p.A161T|STAU1_ENST00000340954.7_Missense_Mutation_p.A161T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	242	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A242T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468																																						uc002xud.3																			1	Substitution - Missense(1)	p.A242T(2)	ovary(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(724-726)Gcc>Acc		Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.							163	181	175					20																	47741010		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47741010C>T		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.724G>A	20.37:g.47741010C>T	ENSP00000360922:p.Ala242Thr					STAU1_uc002xua.3_Missense_Mutation_p.A161T|STAU1_uc002xub.3_Missense_Mutation_p.A167T|STAU1_uc002xuc.3_Missense_Mutation_p.A161T|STAU1_uc002xue.3_Missense_Mutation_p.A161T|STAU1_uc002xuf.3_Missense_Mutation_p.A167T|STAU1_uc002xug.3_Missense_Mutation_p.A242T	p.A242T	NM_017453	NP_059348	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		6	1135	-			242			DRBM 2.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.724G>A	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337601	0.95758	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99461	1.0943	10	0.87932	D	0	-10.4462	19.0449	0.93015	0.0:1.0:0.0:0.0	.	242;167	O95793;Q5JW29	STAU1_HUMAN;.	T	167;161;242;161;161;161;167;161;167	ENSP00000360893:A167T;ENSP00000345425:A161T;ENSP00000360922:A242T;ENSP00000353604:A161T;ENSP00000323443:A161T;ENSP00000360867:A167T;ENSP00000360857:A161T;ENSP00000416779:A167T	ENSP00000345425:A161T	A	-	1	0	STAU1	47174417	1.000000	0.71417	0.376000	0.26042	0.702000	0.40608	7.814000	0.86154	2.492000	0.84095	0.650000	0.86243	GCC		0.468	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		T	47741010	C	T	47741010	3	4	207	1	0	0	0	0	1	0	0	0	15271	768	27	1	1041	1	STAU1	20	47741010	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	22074744	47741010	15284510	56	14536											
SERPINA7	6906	broad.mit.edu	37	chrX	105280734	105280734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagccatgctggatctctaCcattggagtgtctgtgaggt	8	12	13	8	0	2	1	0	1	2	0	3	4	2	3	2	3	3	1	2	3	2	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chrX:105280734C>T	ENST00000327674.4	-	1	651	c.316G>A	c.(316-318)Gta>Ata	p.V106I	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V106I|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	106					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V106L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATCTCTACCATTGGAGTG	0.478																																						uc010npd.3																			1	Substitution - Missense(1)	p.V106L(2)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(316-318)Gta>Ata		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	Levothyroxine(DB00451)|Liothyronine(DB00279)						90	85	87					X																	105280734		2203	4299	6502	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280734C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.316G>A	X.37:g.105280734C>T	ENSP00000329374:p.Val106Ile					SERPINA7_uc004eme.2_Missense_Mutation_p.V106I|SERPINA7_uc010npe.2_Missense_Mutation_p.V106I	p.V106I	NM_000354	NP_000345	P05543	THBG_HUMAN			0	551	-			106					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.316G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.844	-0.741076	0.03088	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84223	-1.82;-1.82	4.9	-4.2	0.03823	Serpin domain (3);	1.431730	0.04120	N	0.316196	T	0.67011	0.2848	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53920	-0.8370	10	0.44086	T	0.13	.	4.5238	0.11971	0.4408:0.2746:0.0:0.2846	.	106	P05543	THBG_HUMAN	I	106	ENSP00000329374:V106I;ENSP00000361644:V106I	ENSP00000329374:V106I	V	-	1	0	SERPINA7	105167390	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.029000	0.00638	-1.459000	0.01914	-0.911000	0.02809	GTA		0.478	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		T	105280734	C	T	105280734	3	4	207	1	0	0	0	0	1	0	0	0	14094	507	18	3	947	3	SERPINA7	23	105280734	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		105280734	49989826	57	14537											
YOD1	55432	broad.mit.edu	37	chr1	207224090	207224090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctgagatccaggcactCgggagggtatccgacgagga	10	7	15	9	3	0	1	0	1	0	1	3	6	2	3	2	4	1	3	2	4	1	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:207224090C>T	ENST00000315927.4	-	1	332	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000367079.2_5'Flank|PFKFB2_ENST00000367080.3_5'Flank|YOD1_ENST00000367084.1_Missense_Mutation_p.E52K|YOD1_ENST00000391927.1_Missense_Mutation_p.E52K	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	96	UBX-like.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCCAGGCACTCGGGAGGGTAT	0.632											OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hfe.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(286-288)Gag>Aag		Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.							49	56	54					1																	207224090		2203	4300	6503	SO:0001583	missense	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207224090C>T		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.286G>A	1.37:g.207224090C>T	ENSP00000326813:p.Glu96Lys		OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	p.E96K	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN			0	333	-	Prostate(682;0.19)		96			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	c.286G>A	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219996	0.22373	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	5.82	5.82	0.92795	.	0.217713	0.46758	D	0.000279	T	0.18882	0.0453	N	0.05012	-0.13	0.80722	D	1	B;P	0.45569	0.004;0.861	B;B	0.29353	0.002;0.101	T	0.38243	-0.9670	9	0.02654	T	1	-6.8942	15.1092	0.72343	0.0:0.858:0.142:0.0	.	52;96	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	K	52;96;52	.	ENSP00000326813:E96K	E	-	1	0	YOD1	205290713	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	4.185000	0.58330	2.752000	0.94435	0.655000	0.94253	GAG		0.632	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		T	207224090	C	T	207224090	3	4	208	1	0	0	0	0	1	0	0	0	17485	893	31	2	768	2	YOD1	1	207224090	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		207224090	42026531	1	14538											
SLC35F3	148641	broad.mit.edu	37	chr1	234455909	234455909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgtctcttggaatcGtcctcagcatacctgtgaat	8	14	8	11	1	3	2	1	2	2	0	6	3	4	3	2	1	2	1	2	1	3	2	rs149597390		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:234455909G>A	ENST00000366617.3	+	6	1234	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I	SLC35F3_ENST00000366618.3_Missense_Mutation_p.V405I			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	336					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.V405I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTTGGAATCGTCCTCAGCAT	0.393													G|||	1	0.000199681	0	0	5008	,	,		25262	0		0	False		,,,				2504	0.001					uc001hvy.1																			1	Substitution - Missense(1)	p.V405I(2)	breast(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(1213-1215)Gtc>Atc		Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.		G	ILE/VAL	0,4406		0,0,2203	179	163	168		1213	5.7	1	1	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35F3	NM_173508.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	405/491	234455909	1,13005	2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234455909G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1006G>A	1.37:g.234455909G>A	ENSP00000355576:p.Val336Ile					SLC35F3_uc001hwa.1_Missense_Mutation_p.V336I	p.V405I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		6	1358	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	336					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.1213G>A		.	.	.	.	.	.	.	.	.	.	G	18.40	3.616323	0.66672	0.0	1.16E-4	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.66099	-0.19;-0.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	L	0.39326	1.205	0.54753	D	0.999983	D;D	0.64830	0.99;0.994	P;P	0.58780	0.635;0.845	T	0.58429	-0.7638	10	0.02654	T	1	-40.7856	19.9043	0.97001	0.0:0.0:1.0:0.0	.	336;405	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	I	405;336	ENSP00000355577:V405I;ENSP00000355576:V336I	ENSP00000355576:V336I	V	+	1	0	SLC35F3	232522532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.067000	0.64357	2.711000	0.92665	0.555000	0.69702	GTC		0.393	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234455909	G	A	234455909	3	1	208	1	0	0	0	0	1	0	0	0	14590	1145	40	1	1239	1	SLC35F3	1	234455909	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	27231819	234455909	14794712	2	14539											
OR2W5	441932	broad.mit.edu	37	chr1	247654793	247654793	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtcatgtcccatgacCgctatgtggccgtctgccgg	4	12	13	12	3	2	1	1	1	1	0	3	1	3	1	4	3	1	2	4	3	1	2	rs201534844		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:247654793C>T	ENST00000522351.1	+	0	424							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCATGACCGCTATGTGGC	0.587																																						uc001icz.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39						c.(364-366)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.		C	CYS/ARG	0,4406		0,0,2203	99	88	92		364	2.7	1	1		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2W5	NM_001004698.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	122/321	247654793	1,13005	2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654793C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654793C>T							p.R122C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	424	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	122					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.364C>T																																																																																					0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		T	247654793	C	T	247654793	1	4	208	0	1	0	0	0	0	0	0	0	11034	652	23	2		2	OR2W5	1	247654793	RNA	SNP	C	TCGA-28-5204-01A-01D-1486-08	13198884	247654793	1595828	3	14540											
IL1A	3552	broad.mit.edu	37	chr2	113532647	113532647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgagactccagacctaCgcctggttttccagtatctg	9	11	9	12	1	1	2	0	1	1	2	3	3	3	2	4	1	1	2	4	1	3	4	rs3783588		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:113532647C>T	ENST00000263339.3	-	7	968	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	271					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TCCAGACCTACGCCTGGTTTT	0.458																																						uc002tig.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(811-813)gcG>gcA		Homo sapiens interleukin 1, alpha (IL1A), mRNA.							88	82	84					2																	113532647		2203	4300	6503	SO:0001819	synonymous_variant	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113532647C>T	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.813G>A	2.37:g.113532647C>T							p.A271A	NM_000575	NP_000566	P01583	IL1A_HUMAN			6	1773	-			271					Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	37	c.813G>A	CCDS2101.1																																																																																				0.458	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		T	113532647	C	T	113532647	2	4	208	1	0	0	0	0	0	0	0	1	7650	523	19	1		1	IL1A	2	113532647	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08		113532647	129666726	4	14541											
TTN	7273	broad.mit.edu	37	chr2	179448473	179448473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactcttcctggggaatctgGtgaggtgcagtattgcaccg	7	12	13	9	1	2	1	0	1	2	0	3	2	3	2	2	4	3	3	2	4	3	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:179448473G>A	ENST00000591111.1	-	262	60737	c.60513C>T	c.(60511-60513)caC>caT	p.H20171H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.H12872H|TTN_ENST00000460472.2_Silent_p.H12747H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.H12939H|TTN_ENST00000589042.1_Silent_p.H21812H|TTN_ENST00000342992.6_Silent_p.H19244H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20171	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGAATCTGGTGAGGTGCAG	0.463																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57730-57732)caC>caT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							67	64	65					2																	179448473		1884	4108	5992	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179448473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60513C>T	2.37:g.179448473G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.H12939H|TTN_uc021vta.1_Silent_p.H12872H|TTN_uc021vtb.1_Silent_p.H12747H	p.H19244H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		260	57957	-			20171			Fibronectin type-III 39.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.57732C>T																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179448473	G	A	179448473	2	1	208	1	0	0	0	0	0	0	0	1	16732	1252	44	3		3	TTN	2	179448473	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08	65915826	179448473	63750900	5	14542											
TMPRSS7	344805	broad.mit.edu	37	chr3	111769547	111769547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgttggtcaaagacAtcactggctttgaagggaaa	14	9	11	7	0	2	2	2	1	0	1	2	3	2	3	0	3	0	2	0	3	3	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:111769547A>G	ENST00000452346.2	+	9	1123	c.1120A>G	c.(1120-1122)Atc>Gtc	p.I374V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.I248V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	374	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGTCAAAGACATCACTGGCTT	0.403																																						uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(742-744)Atc>Gtc		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							225	208	213					3																	111769547		1867	4096	5963	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111769547A>G	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1120A>G	3.37:g.111769547A>G	ENSP00000398236:p.Ile374Val					TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	p.I248V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			6	912	+			374			CUB 1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.742A>G		.	.	.	.	.	.	.	.	.	.	A	10.67	1.414283	0.25465	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.37411	1.2;1.2	4.86	4.86	0.63082	CUB (4);	0.364715	0.28659	N	0.014568	T	0.17959	0.0431	N	0.03608	-0.345	0.25498	N	0.98759	B;B	0.23854	0.092;0.075	B;B	0.24541	0.054;0.032	T	0.15150	-1.0447	10	0.32370	T	0.25	.	12.2556	0.54621	1.0:0.0:0.0:0.0	.	374;248	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	374;362;348;248	ENSP00000398236:I374V;ENSP00000411645:I248V	ENSP00000411645:I248V	I	+	1	0	TMPRSS7	113252237	0.564000	0.26602	0.992000	0.48379	0.869000	0.49853	1.970000	0.40520	1.946000	0.56461	0.377000	0.23210	ATC		0.403	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		G	111769547	A	G	111769547	3	3	208	1	0	0	0	0	1	0	0	0	16249	217	8	4	764	4	TMPRSS7	3	111769547	Missense_Mutation	SNP	A	TCGA-28-5204-01A-01D-1486-08		111769547	86252883	6	14543											
RPL22L1	200916	broad.mit.edu	37	chr3	170584263	170584263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaccactcgaagccaaTcacgaagattgttcttctta	13	11	6	11	2	3	1	1	0	2	1	4	3	3	1	2	0	3	2	2	0	5	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:170584263T>C	ENST00000295830.8	-	4	590	c.275A>G	c.(274-276)gAt>gGt	p.D92G	RPL22L1_ENST00000463836.1_Missense_Mutation_p.D91G	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	92					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCGAAGCCAATCACGAAGATT	0.353																																						uc003fhc.4																			0				kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(274-276)gAt>gGt		Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.							53	49	51					3																	170584263		1837	4087	5924	SO:0001583	missense	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170584263T>C	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.275A>G	3.37:g.170584263T>C	ENSP00000346080:p.Asp92Gly					RPL22L1_uc003fhb.4_Non-coding_Transcript	p.D92G	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	364	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		92					Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	c.275A>G	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117491	0.77323	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.58506	0.33;0.33;0.33	5.37	4.21	0.49690	.	0.046611	0.85682	N	0.000000	T	0.78387	0.4275	M	0.93197	3.39	0.80722	D	1	D	0.59357	0.985	P	0.61201	0.885	T	0.82080	-0.0634	10	0.87932	D	0	.	10.8702	0.46879	0.0:0.0739:0.0:0.9261	.	92	Q6P5R6	RL22L_HUMAN	G	92;112;91	ENSP00000346080:D92G;ENSP00000419713:D112G;ENSP00000419041:D91G	ENSP00000346080:D92G	D	-	2	0	RPL22L1	172066957	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.013000	0.88655	0.890000	0.36211	0.260000	0.18958	GAT		0.353	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		C	170584263	T	C	170584263	3	2	208	1	0	0	0	0	1	0	0	0	13569	1435	50	4	97	4	RPL22L1	3	170584263	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	58814716	170584263	27438167	7	14544											
HRG	3273	broad.mit.edu	37	chr3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcgtggacttctctgtgCggaactgccccagacaccat	8	10	9	14	2	1	1	0	0	1	1	3	3	1	3	3	2	3	0	3	2	1	2	rs140916341	byFrequency	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:186390618C>T	ENST00000232003.4	+	5	681	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	201	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.423																																						uc003fqq.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(601-603)Cgg>Tgg		Homo sapiens histidine-rich glycoprotein (HRG), mRNA.		C	TRP/ARG	0,4406		0,0,2203	100	96	98		601	3.2	1	3	dbSNP_134	98	5,8595	4.3+/-15.6	0,5,4295	yes	missense	HRG	NM_000412.2	101	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	201/526	186390618	5,13001	2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186390618C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.601C>T	3.37:g.186390618C>T	ENSP00000232003:p.Arg201Trp						p.R201W	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	4	624	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		201			Cystatin 2.		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.601C>T	CCDS3280.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.63	1.995518	0.35226	0.0	5.81E-4	ENSG00000113905	ENST00000232003	T	0.13196	2.61	4.35	3.19	0.36642	Proteinase inhibitor I25, cystatin (1);	0.000000	0.47093	D	0.000251	T	0.29783	0.0744	L	0.61218	1.895	0.31139	N	0.706824	D	0.89917	1.0	D	0.79784	0.993	T	0.17198	-1.0377	10	0.72032	D	0.01	-12.8936	8.256	0.31756	0.7841:0.2159:0.0:0.0	.	201	P04196	HRG_HUMAN	W	201	ENSP00000232003:R201W	ENSP00000232003:R201W	R	+	1	2	HRG	187873312	0.996000	0.38824	0.969000	0.41365	0.022000	0.10575	1.195000	0.32186	0.785000	0.33685	-0.397000	0.06425	CGG		0.423	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		T	186390618	C	T	186390618	3	4	208	1	0	0	0	0	1	0	0	0	7354	759	27	1	619	1	HRG	3	186390618	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	15806355	186390618	11631812	8	14545											
CNOT6L	246175	broad.mit.edu	37	chr4	78665959	78665959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtttaatgcccaggatggGcaatagccatatagctgccg	11	9	11	10	1	0	0	0	0	0	0	0	1	0	1	3	2	4	3	3	2	5	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr4:78665959G>A	ENST00000504123.1	-	7	760	c.630C>T	c.(628-630)tgC>tgT	p.C210C	CNOT6L_ENST00000264903.4_Silent_p.C210C|CNOT6L_ENST00000506166.1_Intron			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	210	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGGATGGGCAATAGCCAT	0.393																																						uc011ccd.2																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(628-630)tgC>tgT		Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.							64	60	61					4																	78665959		1919	4138	6057	SO:0001819	synonymous_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78665959G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.630C>T	4.37:g.78665959G>A						CNOT6L_uc003hks.3_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	p.C210C	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			6	761	-			210					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.630C>T		.	.	.	.	.	.	.	.	.	.	G	9.478	1.097497	0.20552	.	.	ENSG00000138767	ENST00000515506	.	.	.	5.17	2.45	0.29901	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51639	-0.8680	4	.	.	.	-0.7469	9.8583	0.41098	0.2271:0.0:0.7729:0.0	.	.	.	.	S	239	.	.	P	-	1	0	CNOT6L	78884983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.627000	0.37050	0.269000	0.21961	0.655000	0.94253	CCC		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			A	78665959	G	A	78665959	2	1	208	1	0	0	0	0	0	0	0	1	3623	1195	42	3		3	CNOT6L	4	78665959	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08		78665959	112488317	9	14546											
PLCXD3	345557	broad.mit.edu	37	chr5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgggcttggtggaaattcGaagatcaaaataacgaattc	14	11	10	6	2	2	1	1	0	1	1	4	4	2	2	0	3	1	1	0	3	6	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:41382448G>A	ENST00000377801.3	-	2	366	c.292C>T	c.(292-294)Cga>Tga	p.R98*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	98	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R98*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443																																						uc003jmm.1																			1	Substitution - Nonsense(1)	p.R98*(2)	prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(292-294)Cga>Tga		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							73	77	76					5																	41382448		2203	4300	6503	SO:0001587	stop_gained	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382448G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.292C>T	5.37:g.41382448G>A	ENSP00000367032:p.Arg98*						p.R98*	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	394	-			98			PI-PLC X-box.		A6NL04	Nonsense_Mutation	SNP	ENST00000377801.3	37	c.292C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983984	0.97173	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4392	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	98	.	ENSP00000333751:R98X	R	-	1	2	PLCXD3	41418205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.885000	0.99019	0.655000	0.94253	CGA		0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		A	41382448	G	A	41382448	4	1	208	1	0	0	0	0	0	1	0	0	12043	1066	37	2	681	2	PLCXD3	5	41382448	Nonsense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		41382448	139532812	10	14547											
ERAP2	64167	broad.mit.edu	37	chr5	96239220	96239220	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccacacacttctcagaccTaaggacagagtaggtctgat	14	8	8	11	0	2	3	1	1	2	2	3	4	2	4	2	2	1	1	2	2	3	3	rs115987752	byFrequency	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:96239220T>C	ENST00000437043.3	+	13	2679	c.1968T>C	c.(1966-1968)ccT>ccC	p.P656P	ERAP2_ENST00000379904.4_Silent_p.P611P|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	656					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTCAGACCTAAGGACAGAG	0.418													T|||	2	0.000399361	0.0015	0	5008	,	,		19785	0		0	False		,,,				2504	0					uc003kmq.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1966-1968)ccT>ccC		Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.							131	124	127					5																	96239220		2203	4300	6503	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96239220T>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1968T>C	5.37:g.96239220T>C						ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.P656P|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.P605P|ERAP2_uc003kmu.3_Non-coding_Transcript	p.P656P	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	12	2678	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	656					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.1968T>C	CCDS4086.1																																																																																				0.418	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		C	96239220	T	C	96239220	2	2	208	1	0	0	0	0	0	0	0	1	5204	1509	53	4		4	ERAP2	5	96239220	Silent	SNP	T	TCGA-28-5204-01A-01D-1486-08	54856772	96239220	84676040	11	14548											
OOEP	441161	broad.mit.edu	37	chr6	74079407	74079407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccggaaaccaccagggccGgatgcgaatctgtggcggcg	9	4	15	13	5	1	0	0	0	1	0	1	3	1	2	4	5	2	0	4	5	2	0	rs189355507		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:74079407G>A	ENST00000370359.5	-	1	108	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	37					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCAGGGCCGGATGCGAATC	0.622													G|||	1	0.000199681	0	0	5008	,	,		16837	0.001		0	False		,,,				2504	0					uc003pgu.4																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(109-111)Cgg>Tgg		Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.							72	81	78					6																	74079407		2081	4230	6311	SO:0001583	missense	441161					cytoplasm		g.chr6:74079407G>A	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"KH homology domain containing 2"	611689	"chromosome 6 open reading frame 156", "oocyte expressed protein homolog (dog)"	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.109C>T	6.37:g.74079407G>A	ENSP00000359384:p.Arg37Trp					OOEP_uc003pgv.4_Intron	p.R37W	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			0	109	-			37					A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.109C>T	CCDS47451.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	G	15.47	2.844032	0.51164	.	.	ENSG00000203907	ENST00000370359	T	0.13089	2.62	3.67	1.89	0.25635	.	.	.	.	.	T	0.02848	0.0085	L	0.32530	0.975	0.09310	N	1	P	0.40534	0.72	B	0.31751	0.135	T	0.37220	-0.9715	9	0.87932	D	0	.	5.605	0.17374	0.248:0.0:0.752:0.0	.	37	A6NGQ2	OOEP_HUMAN	W	37	ENSP00000359384:R37W	ENSP00000359384:R37W	R	-	1	2	OOEP	74136128	0.216000	0.23585	0.047000	0.18901	0.117000	0.20001	0.641000	0.24720	0.539000	0.28788	0.655000	0.94253	CGG		0.622	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		A	74079407	G	A	74079407	3	1	208	1	0	0	0	0	1	0	0	0	10870	1115	39	2	352	2	OOEP	6	74079407	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		74079407	97035660	12	14549											
UST	10090	broad.mit.edu	37	chr6	149342488	149342488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgggcccttgagagaGcaaagctgaacgtgaatgaa	14	7	14	6	1	0	6	0	5	0	1	0	7	0	6	1	1	3	2	1	1	5	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:149342488G>A	ENST00000367463.4	+	7	911	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	270					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CCTTGAGAGAGCAAAGCTGAA	0.388																																						uc003qmg.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(808-810)Gca>Aca		Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.							80	72	75					6																	149342488		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149342488G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.808G>A	6.37:g.149342488G>A	ENSP00000356433:p.Ala270Thr						p.A270T	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	6	1104	+		Ovarian(120;0.0907)	270					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.808G>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994042	0.93167	.	.	ENSG00000111962	ENST00000367463	T	0.75050	-0.9	5.43	4.56	0.56223	.	0.050272	0.85682	D	0.000000	D	0.84602	0.5508	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.87935	0.2713	10	0.72032	D	0.01	-6.7533	14.582	0.68298	0.0708:0.0:0.9292:0.0	.	270	Q9Y2C2	UST_HUMAN	T	270	ENSP00000356433:A270T	ENSP00000356433:A270T	A	+	1	0	UST	149384181	1.000000	0.71417	0.942000	0.38095	0.988000	0.76386	7.954000	0.87848	1.426000	0.47256	0.563000	0.77884	GCA		0.388	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		A	149342488	G	A	149342488	3	1	208	1	0	0	0	0	1	0	0	0	17090	971	34	3	834	3	UST	6	149342488	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	75263081	149342488	21772579	13	14550											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	10	8	9	14	1	0	2	0	1	0	1	2	2	1	2	5	2	2	4	5	2	2	2	rs139754746		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:71571179G>A	ENST00000329008.5	-	3	517	c.219C>T	c.(217-219)agC>agT	p.S73S	CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S|CALN1_ENST00000395275.2_Silent_p.S115S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		13808	0		0	False		,,,				2504	0					uc003twb.4																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(343-345)agC>agT		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	77	59	65		219,345	-6.3	0.1	7	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CALN1	NM_001017440.2,NM_031468.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	73/220,115/262	71571179	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571179G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.219C>T	7.37:g.71571179G>A						CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	p.S115S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			3	736	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	73					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.345C>T	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		A	71571179	G	A	71571179	2	1	208	1	0	0	0	0	0	0	0	1	2591	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08		71571179	87567484	14	14551											
GNAT3	346562	broad.mit.edu	37	chr7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcaatgattccagtcGttttcactcgagaatggaga	11	13	10	7	2	2	3	2	1	0	2	5	6	3	3	1	1	0	2	1	1	2	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:80103615G>A	ENST00000398291.3	-	5	635	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(541-543)aCg>aTg		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							73	69	70					7																	80103615		1848	4102	5950	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80103615G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.542C>T	7.37:g.80103615G>A	ENSP00000381339:p.Thr181Met					CD36_uc003uhc.3_Intron	p.T181M	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			4	542	-			181					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.542C>T	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915663	0.92178	.	.	ENSG00000214415	ENST00000398291	D	0.95918	-3.85	5.99	5.99	0.97316	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98886	1.0771	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	181	A8MTJ3	GNAT3_HUMAN	M	181	ENSP00000381339:T181M	.	T	-	2	0	GNAT3	79941551	1.000000	0.71417	0.971000	0.41717	0.975000	0.68041	9.493000	0.97960	2.853000	0.98044	0.655000	0.94253	ACG		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		A	80103615	G	A	80103615	3	1	208	1	0	0	0	0	1	0	0	0	6513	1145	40	1	536	1	GNAT3	7	80103615	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	8532436	80103615	79035048	15	14552											
TRRAP	8295	broad.mit.edu	37	chr7	98609721	98609721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgaaaacggttctcCgggacgagatcattgcttgg	9	11	12	9	3	3	2	1	1	2	1	4	4	3	3	1	3	2	3	1	3	2	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:98609721C>T	ENST00000359863.4	+	72	11532	c.11323C>T	c.(11323-11325)Cgg>Tgg	p.R3775W	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3746W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R3764W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3775	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11323-11325)Cgg>Tgg		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							86	78	81					7																	98609721		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98609721C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11323C>T	7.37:g.98609721C>T	ENSP00000352925:p.Arg3775Trp					TRRAP_uc011kis.2_Missense_Mutation_p.R3746W|TRRAP_uc003upr.3_Missense_Mutation_p.R3481W|TRRAP_uc003ups.3_5'Flank	p.R3775W	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		71	11532	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3775			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.11323C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131239	0.77549	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.81908	-1.55;-1.55	5.3	4.42	0.53409	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.067137	0.64402	D	0.000009	D	0.91747	0.7390	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91861	0.5499	10	0.54805	T	0.06	.	10.2137	0.43156	0.1357:0.7923:0.0:0.072	.	3746;3503;3775	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	3775;3746;3763	ENSP00000352925:R3775W;ENSP00000347733:R3746W	ENSP00000347733:R3746W	R	+	1	2	TRRAP	98447657	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.775000	0.68915	1.229000	0.43630	0.561000	0.74099	CGG		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98609721	C	T	98609721	3	4	208	1	0	0	0	0	1	0	0	0	16598	643	23	2	11514	2	TRRAP	7	98609721	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	18506106	98609721	60528942	16	14553											
GJC3	349149	broad.mit.edu	37	chr7	99521178	99521178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccaactcaggcatctCtgggtccaactggtctttgt	7	13	8	13	0	4	0	1	0	3	0	7	0	5	0	2	3	2	1	2	3	2	1	rs201992631		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:99521178C>G	ENST00000312891.2	-	2	829	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	277					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tcaggcatctctgggtccaac	0.388																																						uc011kjd.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(829-831)aGa>aCa		Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.							119	110	113					7																	99521178		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99521178C>G	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"Ion channels / Gap junction proteins (connexins)"	17495	protein-coding gene	gene with protein product	"connexin 30.2"	611925	"gap junction protein, epsilon 1, 29kDa"	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.830G>C	7.37:g.99521178C>G	ENSP00000325775:p.Arg277Thr						p.R277T	NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN			1	830	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		277					A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.830G>C	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	4.902	0.167623	0.09339	.	.	ENSG00000176402	ENST00000312891	D	0.97924	-4.61	0.235	-0.47	0.12131	.	.	.	.	.	D	0.90868	0.7131	N	0.08118	0	0.20563	N	0.99989	B	0.02656	0.0	B	0.01281	0.0	T	0.81870	-0.0734	8	0.48119	T	0.1	.	.	.	.	.	277	Q8NFK1	CXG3_HUMAN	T	277	ENSP00000325775:R277T	ENSP00000325775:R277T	R	-	2	0	GJC3	99359114	0.153000	0.22777	0.563000	0.28383	0.572000	0.35998	-1.746000	0.01829	-0.808000	0.04387	-0.802000	0.03209	AGA		0.388	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		G	99521178	C	G	99521178	3	3	208	1	0	0	0	0	1	0	0	0	6416	913	32	5	13	5	GJC3	7	99521178	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	911457	99521178	59617485	17	14554											
MUC17	140453	broad.mit.edu	37	chr7	100684383	100684383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattaactagtgtacctgTcagcaacacgccggtggcca	10	9	9	13	2	1	0	1	0	0	0	2	0	2	0	4	2	4	2	4	2	4	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:100684383T>C	ENST00000306151.4	+	3	9750	c.9686T>C	c.(9685-9687)gTc>gCc	p.V3229A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3229	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGTACCTGTCAGCAACACG	0.478																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9685-9687)gTc>gCc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							259	266	264					7																	100684383		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684383T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9686T>C	7.37:g.100684383T>C	ENSP00000302716:p.Val3229Ala					MUC17_uc010lho.1_Non-coding_Transcript	p.V3229A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	9739	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3229			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9686T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	5.917	0.353343	0.11182	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.656	-1.31	0.09230	.	.	.	.	.	T	0.03053	0.0090	N	0.04880	-0.145	0.09310	N	1	P	0.43392	0.805	P	0.59424	0.857	T	0.16897	-1.0387	9	0.06099	T	0.92	.	2.6112	0.04891	0.2679:0.4811:0.0:0.251	.	3229	Q685J3	MUC17_HUMAN	A	3229	ENSP00000302716:V3229A	ENSP00000302716:V3229A	V	+	2	0	MUC17	100471103	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.864000	0.01650	-1.155000	0.02822	0.113000	0.15668	GTC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100684383	T	C	100684383	3	2	208	1	0	0	0	0	1	0	0	0	9974	1667	58	4	9696	4	MUC17	7	100684383	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	1163205	100684383	58454280	18	14555											
ADAM2	2515	broad.mit.edu	37	chr8	39678526	39678526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattaatcacctacctctaCgctttgtaatttaaaggaca	14	13	4	10	1	2	0	1	0	1	0	2	1	2	1	2	1	2	2	2	1	7	7	rs377755123		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr8:39678526C>T	ENST00000265708.4	-	6	611	c.508G>A	c.(508-510)Gta>Ata	p.V170I	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V170I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V170I|ADAM2_ENST00000347580.4_Missense_Mutation_p.V170I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	170				V -> A (in Ref. 2; AAD04206). {ECO:0000305}.	adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTACCTCTACGCTTTGTAAT	0.294																																						uc003xnj.3																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(508-510)Gta>Ata		Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.							83	86	85					8																	39678526		2202	4294	6496	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39678526C>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.508G>A	8.37:g.39678526C>T	ENSP00000265708:p.Val170Ile					ADAM2_uc003xnk.3_Missense_Mutation_p.V170I|ADAM2_uc011lck.2_Missense_Mutation_p.V170I|ADAM2_uc003xnl.3_Missense_Mutation_p.V170I	p.V170I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	5	583	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	170	V -> A (in Ref. 2; AAD04206).				P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.508G>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	9.523	1.108927	0.20714	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.66099	5.08;-0.19;5.28;5.25	5.47	-10.9	0.00192	.	.	.	.	.	T	0.34221	0.0890	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.36962	-0.9726	8	.	.	.	.	14.9088	0.70740	0.096:0.6698:0.0:0.2341	.	170;170;170;170	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	I	170	ENSP00000343854:V170I;ENSP00000369182:V170I;ENSP00000265708:V170I;ENSP00000429352:V170I	.	V	-	1	0	ADAM2	39797683	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.721000	0.00811	-1.902000	0.01094	-1.708000	0.00717	GTA		0.294	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		T	39678526	C	T	39678526	3	4	208	1	0	0	0	0	1	0	0	0	241	536	19	1	1759	1	ADAM2	8	39678526	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		39678526	106685496	19	14556											
RORB	6096	broad.mit.edu	37	chr9	77249548	77249548	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctctttttccctcaaggGattctttaggaggagccagc	7	14	9	11	0	3	0	1	0	2	0	5	3	4	3	2	3	2	0	2	3	2	6	rs143312543		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:77249548G>T	ENST00000396204.2	+	3	128	c.128G>T	c.(127-129)gGa>gTa	p.G43V	RORB_ENST00000376896.3_Splice_Site_p.G32V			Q92753	RORB_HUMAN	RAR-related orphan receptor B	43					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G32E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TCCCTCAAGGGATTCTTTAGG	0.413																																						uc004aji.3																			1	Substitution - Missense(1)	p.G32E(1)	skin(1)	breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.e3-1		Homo sapiens RAR-related orphan receptor B (RORB), mRNA.							36	36	36					9																	77249548		2203	4300	6503	SO:0001630	splice_region_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77249548G>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.127-1G>T	9.37:g.77249548G>T						RORB_uc004ajh.3_Splice_Site_p.G32_splice	p.G43_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN			3	176	+			43					Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.127_splice		.	.	.	.	.	.	.	.	.	.	G	22.8	4.333874	0.81801	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97772	-4.53;-4.53	5.82	4.92	0.64577	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.046500	0.85682	D	0.000000	D	0.98523	0.9507	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.99577	1.0972	10	0.87932	D	0	.	14.6496	0.68786	0.0693:0.0:0.9307:0.0	.	43;32	Q92753;Q58EY0	RORB_HUMAN;.	V	32;43	ENSP00000366093:G32V;ENSP00000379507:G43V	ENSP00000366093:G32V	G	+	2	0	RORB	76439368	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.860000	0.99555	1.468000	0.48064	0.655000	0.94253	GGA		0.413	RORB-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	T	77249548	G	T	77249548	5	4	208	1	0	0	0	0	0	0	1	0	13529	1188	41	5	105	5	RORB	9	77249548	Splice_Site	SNP	G	TCGA-28-5204-01A-01D-1486-08		77249548	63963883	20	14557											
BICD2	23299	broad.mit.edu	37	chr9	95481024	95481024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcttgatctggtcacGgatgatagcgatcaggttgt	8	12	14	7	2	3	2	2	2	1	0	3	4	3	3	0	4	2	2	0	4	1	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:95481024G>A	ENST00000375512.3	-	5	1970	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_ENST00000356884.6_Missense_Mutation_p.R635C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	635					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652																																						uc004asp.1																			0		p.R635H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1903-1905)Cgt>Tgt		Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.							107	103	105					9																	95481024		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481024G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1903C>T	9.37:g.95481024G>A	ENSP00000364662:p.Arg635Cys					BICD2_uc004aso.1_Missense_Mutation_p.R635C	p.R635C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN			4	1960	-			635					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1903C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606858	0.66558	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53423	0.62;0.62	5.03	4.07	0.47477	.	0.060107	0.64402	D	0.000004	T	0.67998	0.2953	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72340	-0.4323	10	0.87932	D	0	-15.392	12.2397	0.54536	0.0:0.0:0.8292:0.1708	.	635;635	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	635	ENSP00000349351:R635C;ENSP00000364662:R635C	ENSP00000349351:R635C	R	-	1	0	BICD2	94520845	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	3.676000	0.54612	2.516000	0.84829	0.561000	0.74099	CGT		0.652	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		A	95481024	G	A	95481024	3	1	208	1	0	0	0	0	1	0	0	0	1429	1116	39	2	686	2	BICD2	9	95481024	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	18231476	95481024	45732407	21	14558											
CYLC2	1539	broad.mit.edu	37	chr9	105767590	105767590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtaaaaaggattcaaagaAgggcaaggattcagccatag	18	6	12	5	0	2	1	2	0	0	1	2	3	2	3	1	4	1	2	1	4	7	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:105767590A>C	ENST00000374798.3	+	5	747	c.677A>C	c.(676-678)aAg>aCg	p.K226T	CYLC2_ENST00000487798.1_Missense_Mutation_p.K226T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	226	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCAAAGAAGGGCAAGGAT	0.373																																						uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(676-678)aAg>aCg		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							87	83	84					9																	105767590		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767590A>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.677A>C	9.37:g.105767590A>C	ENSP00000420256:p.Lys226Thr						p.K226T	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	747	+		all_hematologic(171;0.125)	226			3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.677A>C	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813903	0.32053	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16196	2.36;2.36	4.51	3.38	0.38709	.	0.000000	0.48286	D	0.000190	T	0.33585	0.0868	M	0.80422	2.495	0.09310	N	1	D	0.67145	0.996	P	0.62740	0.906	T	0.12167	-1.0558	10	0.30078	T	0.28	-15.0606	5.8153	0.18490	0.7927:0.0:0.2073:0.0	.	226	Q14093	CYLC2_HUMAN	T	226	ENSP00000420256:K226T;ENSP00000417674:K226T	ENSP00000420256:K226T	K	+	2	0	CYLC2	104807411	0.145000	0.22656	0.060000	0.19600	0.216000	0.24613	1.530000	0.36007	0.878000	0.35920	0.477000	0.44152	AAG		0.373	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		C	105767590	A	C	105767590	3	2	208	1	0	0	0	0	1	0	0	0	4142	72	3	5	695	5	CYLC2	9	105767590	Missense_Mutation	SNP	A	TCGA-28-5204-01A-01D-1486-08	10286566	105767590	35445841	22	14559											
TAF3	83860	broad.mit.edu	37	chr10	8007617	8007625	+	In_Frame_Del	DEL	AGAAGGAGA	AGAAGGAGA	-																															gaagaaaaagaaggaaaaagAgaaggagaagaaggagaagg																										TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:8007617_8007625delAGAAGGAGA	ENST00000344293.5	+	3	2350_2358	c.2144_2152delAGAAGGAGA	c.(2143-2154)gagaaggagaag>gag	p.KEK719del		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	719	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aaggaaaaagagaaggagaagaaggagaa	0.383																																						uc010qbd.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2143-2154)gagaaggagaag>gag		Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.																																				SO:0001651	inframe_deletion	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007617_8007625delAGAAGGAGA	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2144_2152delAGAAGGAGA	10.37:g.8007626_8007634delAGAAGGAGA	ENSP00000340271:p.Lys719_Lys721del						p.KEK719del	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			2	2144_2152	+			719			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	In_Frame_Del	DEL	ENST00000344293.5	37	c.2144_2152delAGAAGGAGA	CCDS41487.1																																																																																				0.383	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		-	8007625	AGAAGGAGA	-	8007617	7	5	208	1	0	1	0	1	0	0	0	0	15522	304	11	0	2154	0	TAF3	10	8007617	In_Frame_Del	DEL	AGAAGGAGA	TCGA-28-5204-01A-01D-1486-08		8007617	127527130	23	14560											
FAM13C	220965	broad.mit.edu	37	chr10	61029825	61029825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtggaggtcttctggtgCactgtcggcctcattctgcc	5	12	13	11	1	4	1	1	0	3	1	5	2	4	2	2	4	2	1	2	4	0	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:61029825C>T	ENST00000373868.2	-	7	724	c.637G>A	c.(637-639)Gca>Aca	p.A213T	FAM13C_ENST00000277705.6_Missense_Mutation_p.A234T|FAM13C_ENST00000468840.2_Missense_Mutation_p.A130T|FAM13C_ENST00000373867.3_Missense_Mutation_p.A130T|FAM13C_ENST00000442566.3_Missense_Mutation_p.A234T|FAM13C_ENST00000435852.2_Missense_Mutation_p.A213T|FAM13C_ENST00000419214.2_Missense_Mutation_p.A213T|FAM13C_ENST00000422313.2_Missense_Mutation_p.A213T	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	213										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCTGGTGCACTGTCGGCC	0.532																																						uc010qif.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(703-705)Gca>Aca		Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.							107	95	99					10																	61029825		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61029825C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.637G>A	10.37:g.61029825C>T	ENSP00000362975:p.Ala213Thr					FAM13C_uc010qid.2_Missense_Mutation_p.A130T|FAM13C_uc001jkn.3_Missense_Mutation_p.A213T|FAM13C_uc001jko.3_Missense_Mutation_p.A213T|FAM13C_uc010qie.2_Missense_Mutation_p.A130T|FAM13C_uc001jkp.3_Missense_Mutation_p.A130T	p.A235T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			6	769	-			213					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.703G>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	1.167	-0.642074	0.03531	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;0.96;-1.16;-1.16;-1.16	5.53	-2.43	0.06522	.	0.699211	0.12940	N	0.426659	T	0.51329	0.1668	N	0.03177	-0.4	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.003;0.001;0.004	T	0.33854	-0.9852	10	0.15952	T	0.53	1.4619	12.4184	0.55506	0.0:0.3819:0.0:0.618	.	213;130;213;213;213	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	T	130;213;234;234;213;130;213;213	ENSP00000362974:A130T;ENSP00000362975:A213T;ENSP00000395661:A234T;ENSP00000277705:A234T;ENSP00000391993:A213T;ENSP00000423896:A130T;ENSP00000392302:A213T;ENSP00000400241:A213T	ENSP00000277705:A234T	A	-	1	0	FAM13C	60699831	0.001000	0.12720	0.000000	0.03702	0.315000	0.28087	0.063000	0.14410	-0.874000	0.04027	-0.768000	0.03414	GCA		0.532	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			T	61029825	C	T	61029825	3	4	208	1	0	0	0	0	1	0	0	0	5454	710	25	3	1152	3	FAM13C	10	61029825	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	53022208	61029825	74504922	24	14561											
RTKN2	219790	broad.mit.edu	37	chr10	63957685	63957685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctatacttgtgcctgcagCcatgatctagggtccagaat	9	13	9	10	0	2	2	0	1	2	1	3	2	3	2	3	1	4	1	3	1	4	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:63957685C>G	ENST00000373789.3	-	12	1908	c.1812G>C	c.(1810-1812)tgG>tgC	p.W604C	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	604					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGCCTGCAGCCATGATCTAG	0.378																																						uc001jlw.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1810-1812)tgG>tgC		Homo sapiens rhotekin 2 (RTKN2), mRNA.							56	54	55					10																	63957685		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63957685C>G	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1812G>C	10.37:g.63957685C>G	ENSP00000362894:p.Trp604Cys					RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.W258C	p.W604C	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			11	1909	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		604					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1812G>C	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263764	0.39995	.	.	ENSG00000182010	ENST00000373789	T	0.41065	1.01	5.61	5.61	0.85477	.	0.065552	0.64402	D	0.000003	T	0.59142	0.2172	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.61436	-0.7063	10	0.87932	D	0	-7.3012	15.2638	0.73646	0.1408:0.8592:0.0:0.0	.	604	Q8IZC4	RTKN2_HUMAN	C	604	ENSP00000362894:W604C	ENSP00000362894:W604C	W	-	3	0	RTKN2	63627691	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	4.282000	0.58971	2.657000	0.90304	0.655000	0.94253	TGG		0.378	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		G	63957685	C	G	63957685	3	3	208	1	0	0	0	0	1	0	0	0	13723	740	26	5	21	5	RTKN2	10	63957685	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	2927860	63957685	71577062	25	14562											
OR51A2	401667	broad.mit.edu	37	chr11	4976153	4976153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagacatgcccggcaaagCggtggacaacggccaggttg	11	4	16	10	3	0	1	0	0	0	1	0	4	0	2	2	5	3	2	2	5	2	1	rs61744535		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:4976153C>T	ENST00000380371.1	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453																																						uc010qyt.2																			1	Substitution - Missense(1)	p.R264H(2)	large_intestine(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(790-792)cGc>cAc		Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.							97	77	84					11																	4976153		2088	3861	5949	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976153C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.791G>A	11.37:g.4976153C>T	ENSP00000369729:p.Arg264His						p.R264H	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	791	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	264						Missense_Mutation	SNP	ENST00000380371.1	37	c.791G>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	11.66	1.703728	0.30232	.	.	ENSG00000205496	ENST00000380371	T	0.37235	1.21	3.26	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42720	0.1215	M	0.88377	2.95	0.09310	N	1	P	0.35124	0.485	B	0.36418	0.224	T	0.42120	-0.9470	9	0.72032	D	0.01	.	6.5172	0.22254	0.0:0.6676:0.0:0.3324	.	264	Q8NGJ7	O51A2_HUMAN	H	264	ENSP00000369729:R264H	ENSP00000369729:R264H	R	-	2	0	OR51A2	4932729	0.005000	0.15991	0.001000	0.08648	0.046000	0.14306	1.948000	0.40303	-0.053000	0.13289	0.503000	0.49774	CGC		0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		T	4976153	C	T	4976153	3	4	208	1	0	0	0	0	1	0	0	0	11086	768	27	1	152	1	OR51A2	11	4976153	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		4976153	130030363	26	14563											
OR4C12	283093	broad.mit.edu	37	chr11	50003720	50003720	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggatgatctcagtagcAccaaaaatgtgttctgcata	14	10	9	8	0	2	1	1	1	2	0	3	2	2	2	1	1	3	5	1	1	4	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:50003720A>G	ENST00000335238.4	-	1	351	c.318T>C	c.(316-318)ggT>ggC	p.G106G		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTCAGTAGCACCAAAAATGT	0.453																																						uc010ria.2																			0		p.G106C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(316-318)ggT>ggC		Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.							143	142	142					11																	50003720		2201	4296	6497	SO:0001819	synonymous_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003720A>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.318T>C	11.37:g.50003720A>G							p.G106G	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			0	352	-			106					B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	c.318T>C	CCDS31496.1																																																																																				0.453	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		G	50003720	A	G	50003720	2	3	208	1	0	0	0	0	0	0	0	1	11046	146	6	4		4	OR4C12	11	50003720	Silent	SNP	A	TCGA-28-5204-01A-01D-1486-08	45027567	50003720	85002796	27	14564											
CARD16	114769	broad.mit.edu	37	chr11	104912141	104912141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagactatgataatttatGagttccagtttgcaactctt	12	16	7	6	0	1	4	0	3	1	1	2	4	2	4	1	0	2	3	1	0	5	7			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:104912141G>A	ENST00000375706.2	-	3	597	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	194					regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						GATAATTTATGAGTTCCAGTT	0.398																																						uc001pip.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(580-582)Cat>Tat		Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	Minocycline(DB01017)|Penicillamine(DB00859)						66	70	69					11																	104912141		2202	4299	6501	SO:0001583	missense	114769				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104912141G>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.580C>T	11.37:g.104912141G>A	ENSP00000364858:p.His194Tyr					CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	p.H194Y	NM_001017534	NP_001017534	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	2	607	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	0					Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.580C>T	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	5.563	0.288706	0.10513	.	.	ENSG00000204397	ENST00000375706	T	0.18960	2.18	0.738	0.738	0.18319	.	0.188169	0.44285	U	0.000463	T	0.08670	0.0215	N	0.22421	0.69	0.09310	N	1	P	0.47604	0.898	B	0.28784	0.094	T	0.33240	-0.9876	9	0.87932	D	0	.	.	.	.	.	194	Q5EG05	CAR16_HUMAN	Y	194	ENSP00000364858:H194Y	ENSP00000364858:H194Y	H	-	1	0	CARD16	104417351	0.001000	0.12720	0.005000	0.12908	0.038000	0.13279	0.716000	0.25836	0.678000	0.31325	0.313000	0.20887	CAT		0.398	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			A	104912141	G	A	104912141	3	1	208	1	0	0	0	0	1	0	0	0	2647	1290	45	3	17	3	CARD16	11	104912141	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	54908421	104912141	30094375	28	14565											
SLC38A1	81539	broad.mit.edu	37	chr12	46594890	46594890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattacttaccatagaatgTcaagtagccaaaaatggcag	18	9	7	7	0	1	1	1	0	0	1	1	1	1	1	2	1	3	2	2	1	9	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:46594890T>C	ENST00000398637.5	-	13	1688	c.994A>G	c.(994-996)Aca>Gca	p.T332A	SLC38A1_ENST00000439706.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000546893.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000552197.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000549049.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	332					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATAGAATGTCAAGTAGCCA	0.294																																						uc009zkj.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(994-996)Aca>Gca		Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.							62	56	58					12																	46594890		1806	4073	5879	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594890T>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.994A>G	12.37:g.46594890T>C	ENSP00000381634:p.Thr332Ala					SLC38A1_uc001rpb.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.3_Missense_Mutation_p.T332A|SLC38A1_uc010slh.2_Missense_Mutation_p.T305A|SLC38A1_uc001rpa.3_Missense_Mutation_p.T332A	p.T332A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		12	1679	-	Lung SC(27;0.137)|Renal(347;0.236)		332					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.994A>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573705	0.86542	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	T	0.14700	0.0355	M	0.87682	2.9	0.58432	D	0.999991	B;P;P	0.37370	0.41;0.537;0.592	P;B;P	0.51516	0.45;0.437;0.672	T	0.00168	-1.1963	10	0.44086	T	0.13	-15.395	15.6633	0.77206	0.0:0.0:0.0:1.0	.	332;332;332	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	A	332	ENSP00000449607:T332A;ENSP00000398142:T332A;ENSP00000381634:T332A;ENSP00000447853:T332A;ENSP00000449756:T332A	ENSP00000381634:T332A	T	-	1	0	SLC38A1	44881157	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.979000	0.88103	2.090000	0.63153	0.455000	0.32223	ACA		0.294	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			C	46594890	T	C	46594890	3	2	208	1	0	0	0	0	1	0	0	0	14601	1667	58	4	489	4	SLC38A1	12	46594890	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08		46594890	87257005	29	14566											
TRPC4	7223	broad.mit.edu	37	chr13	38266163	38266163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacggtaatatcatccactCgacgatggttggtggtggac	9	10	12	10	3	1	0	1	0	0	0	3	3	2	1	2	5	0	2	2	5	2	3	rs544186577		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:38266163C>T	ENST00000379705.3	-	4	2064	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	TRPC4_ENST00000379681.3_Missense_Mutation_p.E403K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E403K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E403K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E403K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E403K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E230K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E230K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E403K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	403					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCATCCACTCGACGATGGTT	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		18850	0		0	False		,,,				2504	0					uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1207-1209)Gag>Aag		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							93	84	87					13																	38266163		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266163C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1207G>A	13.37:g.38266163C>T	ENSP00000369027:p.Glu403Lys					TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.E403K|TRPC4_uc001uws.3_Missense_Mutation_p.E403K|TRPC4_uc010tey.2_Missense_Mutation_p.E403K|TRPC4_uc010abw.3_Missense_Mutation_p.E230K|TRPC4_uc010aby.3_Missense_Mutation_p.E403K	p.E403K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1442	-			403					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1207G>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538944	0.96474	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.76575	0.95;0.977;0.988;0.98;0.977;0.95	D	0.93727	0.7038	10	0.87932	D	0	-26.5462	20.1931	0.98233	0.0:1.0:0.0:0.0	.	403;403;403;230;403;403	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	403;403;230;230;403;403;403;403;403	ENSP00000369027:E403K;ENSP00000369003:E403K;ENSP00000342580:E230K;ENSP00000369001:E230K;ENSP00000410133:E403K;ENSP00000348025:E403K;ENSP00000351264:E403K;ENSP00000368995:E403K;ENSP00000414316:E403K	ENSP00000342580:E230K	E	-	1	0	TRPC4	37164163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	GAG		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		T	38266163	C	T	38266163	3	4	208	1	0	0	0	0	1	0	0	0	16577	893	31	2	1773	2	TRPC4	13	38266163	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		38266163	76903715	30	14567											
DACH1	1602	broad.mit.edu	37	chr13	72053352	72053352	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtgtttcccttagttCtctttcccttaaaaaatcca	10	16	3	12	0	2	0	1	0	1	0	6	0	5	0	3	0	0	2	3	0	5	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:72053352C>A	ENST00000359684.2	-	9	1980	c.1981G>T	c.(1981-1983)Gaa>Taa	p.E661*	DACH1_ENST00000313174.7_Nonsense_Mutation_p.E461*|DACH1_ENST00000305425.4_Nonsense_Mutation_p.E609*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.E407*			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	661	DACHbox-C.|Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCCTTAGTTCTCTTTCCCTT	0.363																																						uc021rkj.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1825-1827)Gaa>Taa		Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.							107	100	102					13																	72053352		1802	4071	5873	SO:0001587	stop_gained	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053352C>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1981G>T	13.37:g.72053352C>A	ENSP00000352712:p.Glu661*					DACH1_uc021rkk.1_Nonsense_Mutation_p.E461*|DACH1_uc021rkl.1_Nonsense_Mutation_p.E407*	p.E609*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	7	2248	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	659					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Nonsense_Mutation	SNP	ENST00000359684.2	37	c.1825G>T		.	.	.	.	.	.	.	.	.	.	C	43	9.928864	0.99298	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.2974	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	X	609;461;407;661;661	.	ENSP00000304994:E609X	E	-	1	0	DACH1	70951353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	2.770000	0.95276	0.655000	0.94253	GAA		0.363	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		A	72053352	C	A	72053352	4	1	208	1	0	0	0	0	0	1	0	0	4220	922	32	5	317	5	DACH1	13	72053352	Nonsense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	33787189	72053352	43116526	31	14568											
ACAN	176	broad.mit.edu	37	chr15	89400787	89400787	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccatctggattcccAactgtttccctagtggattc	7	14	8	12	0	1	0	0	0	1	0	5	3	4	3	3	3	1	1	3	3	2	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr15:89400787A>T	ENST00000561243.1	+	11	4971	c.4971A>T	c.(4969-4971)ccA>ccT	p.P1657P	ACAN_ENST00000352105.7_Silent_p.P1657P|ACAN_ENST00000439576.2_Silent_p.P1657P|ACAN_ENST00000559004.1_Silent_p.P1657P			P16112	PGCA_HUMAN	aggrecan	1698	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGATTCCCAACTGTTTCCC	0.537																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4969-4971)ccA>ccT		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							143	144	144					15																	89400787		1953	4131	6084	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400787A>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4971A>T	15.37:g.89400787A>T						ACAN_uc010upp.1_Silent_p.P1657P|ACAN_uc002bna.2_Non-coding_Transcript	p.P1657P	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		11	5345	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1657					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.4971A>T	CCDS53970.1																																																																																				0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89400787	A	T	89400787	2	4	208	1	0	0	0	0	0	0	0	1	117	117	5	5		5	ACAN	15	89400787	Silent	SNP	A	TCGA-28-5204-01A-01D-1486-08		89400787	13130605	32	14569											
DPEP1	1800	broad.mit.edu	37	chr16	89703308	89703308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggacacgggagacagcGagccccagagccaaggcttg	10	4	16	11	2	0	2	0	0	0	2	0	5	0	3	3	4	3	1	3	4	1	1	rs34815649|rs368870164		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr16:89703308G>A	ENST00000393092.3	+	6	847	c.556G>A	c.(556-558)Gag>Aag	p.E186K	DPEP1_ENST00000421184.1_Missense_Mutation_p.E186K|DPEP1_ENST00000261615.4_Missense_Mutation_p.E186K	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	186					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGAGACAGCGAGCCCCAGAG	0.657																																						uc010cin.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(556-558)Gag>Aag		Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	Cilastatin(DB01597)	G	LYS/GLU,LYS/GLU	0,4384		0,0,2192	67	75	72		556,556	-8.4	0	16		72	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	56,56	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	186/412,186/412	89703308	1,12979	2192	4298	6490	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703308G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.556G>A	16.37:g.89703308G>A	ENSP00000376807:p.Glu186Lys					DPEP1_uc002fnr.4_Missense_Mutation_p.E186K|DPEP1_uc002fns.4_Missense_Mutation_p.E186K	p.E186K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	5	759	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	186					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.556G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	4.276	0.050279	0.08243	0.0	1.16E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.21031	2.03;2.03;2.03	5.3	-8.44	0.00950	.	1.016460	0.07837	N	0.962252	T	0.05593	0.0147	N	0.02697	-0.525	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.37957	-0.9683	10	0.06099	T	0.92	-6.4201	8.5302	0.33329	0.5259:0.2686:0.2055:0.0	.	186	P16444	DPEP1_HUMAN	K	186	ENSP00000397313:E186K;ENSP00000376807:E186K;ENSP00000261615:E186K	ENSP00000261615:E186K	E	+	1	0	DPEP1	88230809	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.843000	0.00736	-1.873000	0.01135	-2.069000	0.00389	GAG		0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		A	89703308	G	A	89703308	3	1	208	1	0	0	0	0	1	0	0	0	4713	1059	37	2	574	2	DPEP1	16	89703308	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		89703308	651445	33	14570											
PIK3R5	23533	broad.mit.edu	37	chr17	8792501	8792501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtagcacctggcgacagGgatggggatggtgtggagct	7	8	20	6	1	0	0	0	0	0	0	0	4	0	3	1	7	2	3	1	7	1	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:8792501G>T	ENST00000447110.1	-	9	974	c.850C>A	c.(850-852)Cct>Act	p.P284T	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P284T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P284T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	284				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCGACAGGGATGGGGATG	0.592																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(850-852)Cct>Act		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.							75	68	70					17																	8792501		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792501G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.850C>A	17.37:g.8792501G>T	ENSP00000392812:p.Pro284Thr					PIK3R5_uc010vuz.2_Missense_Mutation_p.P284T|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	p.P284T	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN			8	917	-			284	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.850C>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536474	0.45176	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.87571	-2.27	5.15	5.15	0.70609	.	0.056446	0.64402	D	0.000001	D	0.90331	0.6975	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91383	0.5129	10	0.87932	D	0	-17.8798	18.4772	0.90797	0.0:0.0:1.0:0.0	.	284	Q8WYR1	PI3R5_HUMAN	T	284	ENSP00000392812:P284T	ENSP00000269300:P284T	P	-	1	0	PIK3R5	8733226	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	8.724000	0.91462	2.700000	0.92200	0.650000	0.86243	CCT		0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		T	8792501	G	T	8792501	3	4	208	1	0	0	0	0	1	0	0	0	11922	1232	43	5	1836	5	PIK3R5	17	8792501	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		8792501	72402709	34	14571											
DBF4B	80174	broad.mit.edu	37	chr17	42828248	42828248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggacattcctgttaaggGcccactcctcttccctgaag	7	10	10	14	1	1	1	0	1	1	0	4	2	4	2	4	3	0	1	4	3	2	3	rs201641003		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:42828248G>A	ENST00000315005.3	+	14	1613	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	492					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGTTAAGGGCCCACTCCTC	0.592													g|||	1	0.000199681	0	0	5008	,	,		19545	0.001		0	False		,,,				2504	0					uc002ihf.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1474-1476)gGc>gAc		Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.							108	101	103					17																	42828248		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828248G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1475G>A	17.37:g.42828248G>A	ENSP00000323663:p.Gly492Asp					DBF4B_uc010wjc.2_Intron	p.G492D	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			13	1688	+		Prostate(33;0.0322)	492					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1475G>A	CCDS11485.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.17	1.276996	0.23307	.	.	ENSG00000161692	ENST00000315005	T	0.58797	0.31	2.53	-3.82	0.04281	.	5.772650	0.00649	N	0.000540	T	0.33962	0.0881	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.05484	-1.0882	9	.	.	.	.	2.6031	0.04871	0.3766:0.0:0.263:0.3604	.	492	Q8NFT6	DBF4B_HUMAN	D	492	ENSP00000323663:G492D	.	G	+	2	0	DBF4B	40183774	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.805000	0.01737	-0.911000	0.03843	-0.642000	0.03964	GGC		0.592	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		A	42828248	G	A	42828248	3	1	208	1	0	0	0	0	1	0	0	0	4249	1203	42	3	1574	3	DBF4B	17	42828248	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	34035747	42828248	38366962	35	14572											
RGS9	8787	broad.mit.edu	37	chr17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccctcccttttatgCggcgtcacctgcgctccagc	4	10	8	19	3	1	0	1	0	0	0	4	0	4	0	5	1	3	2	5	1	1	2	rs572338388		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:63206625C>T	ENST00000262406.9	+	17	1376	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_ENST00000449996.3_Missense_Mutation_p.R434W|RGS9_ENST00000443584.3_Missense_Mutation_p.R434W	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		17810	0		0	False		,,,				2504	0					uc002jfe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1309-1311)Cgg>Tgg		Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.							121	125	124					17																	63206625		2081	4207	6288	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206625C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1309C>T	17.37:g.63206625C>T	ENSP00000262406:p.Arg437Trp					RGS9_uc021ubw.1_Missense_Mutation_p.R434W|RGS9_uc010dem.3_Missense_Mutation_p.R434W|RGS9_uc002jfd.3_Missense_Mutation_p.R434W|RGS9_uc002jfg.3_Missense_Mutation_p.R208W	p.R437W	NM_003835	NP_003826	O75916	RGS9_HUMAN			16	1512	+			437					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1309C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914989	0.33815	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34472	1.36;1.36	5.31	1.97	0.26223	.	0.195954	0.45126	D	0.000391	T	0.52901	0.1763	L	0.59436	1.845	0.36049	D	0.840602	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69654	0.965;0.922;0.964	T	0.63037	-0.6726	10	0.62326	D	0.03	.	14.0681	0.64844	0.4014:0.5986:0.0:0.0	.	437;437;434	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	W	437;434	ENSP00000262406:R437W;ENSP00000396329:R434W	ENSP00000262406:R437W	R	+	1	2	RGS9	60637087	0.997000	0.39634	0.997000	0.53966	0.867000	0.49689	1.611000	0.36879	0.232000	0.21100	0.655000	0.94253	CGG		0.572	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		T	63206625	C	T	63206625	3	4	208	1	0	0	0	0	1	0	0	0	13313	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	20378377	63206625	17988585	36	14573											
ABCA5	23461	broad.mit.edu	37	chr17	67264191	67264191	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttaaaaactatatcagTaatttcctgaaagacaacca	19	12	3	7	0	1	2	1	1	0	1	2	2	2	2	2	0	2	1	2	0	9	6			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:67264191T>A	ENST00000392676.3	-	23	3101	c.3037A>T	c.(3037-3039)Act>Tct	p.T1013S	ABCA5_ENST00000588877.1_Missense_Mutation_p.T1013S|ABCA5_ENST00000392677.2_Missense_Mutation_p.T1014S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1013					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACTATATCAGTAATTTCCTGA	0.303																																						uc002jif.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(3037-3039)Act>Tct		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							38	38	38					17																	67264191		2203	4298	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67264191T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3037A>T	17.37:g.67264191T>A	ENSP00000376443:p.Thr1013Ser					ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	p.T1013S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN			21	4255	-	Breast(10;3.72e-11)		1013					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3037A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478481	0.12521	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.83419	-1.72;-1.72	5.16	5.16	0.70880	.	0.193271	0.36374	N	0.002626	T	0.78375	0.4273	L	0.60455	1.87	0.25663	N	0.985971	P	0.35684	0.515	B	0.37387	0.248	T	0.70988	-0.4722	9	.	.	.	.	7.3147	0.26493	0.1418:0.0:0.1473:0.7108	.	1013	Q8WWZ7	ABCA5_HUMAN	S	1014;1013	ENSP00000376444:T1014S;ENSP00000376443:T1013S	.	T	-	1	0	ABCA5	64775786	0.998000	0.40836	1.000000	0.80357	0.915000	0.54546	0.974000	0.29436	2.074000	0.62210	0.528000	0.53228	ACT		0.303	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		A	67264191	T	A	67264191	3	1	208	1	0	0	0	0	1	0	0	0	35	1638	57	5	1959	5	ABCA5	17	67264191	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	4057566	67264191	13931019	37	14574											
TNRC6C	57690	broad.mit.edu	37	chr17	76083173	76083173	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctttgctccttaccctctCggtgagtgtcccatggtctt	4	15	8	14	1	2	1	0	1	2	0	5	1	4	1	4	2	2	1	4	2	1	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:76083173C>T	ENST00000588061.1	+	15	4528	c.3801C>T	c.(3799-3801)ctC>ctT	p.L1267L	TNRC6C_ENST00000544502.1_Splice_Site_p.L1264L|TNRC6C_ENST00000335749.4_Splice_Site_p.L1264L|TNRC6C_ENST00000588847.1_Splice_Site_p.L1264L|TNRC6C_ENST00000541771.1_Splice_Site_p.L1267L|TNRC6C_ENST00000301624.4_Splice_Site_p.L1267L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1267	Silencing domain; interaction with CNOT1 and PAN3.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTTACCCTCTCGGTGAGTGTC	0.572																																						uc002jud.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.e14+1		Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.							102	110	107					17																	76083173		2118	4232	6350	SO:0001630	splice_region_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76083173C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3802+1C>T	17.37:g.76083173C>T						TNRC6C_uc002juf.2_Splice_Site_p.A1265_splice	p.A1268_splice	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		14	4402	+			1268					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.3802_splice	CCDS45798.1																																																																																				0.572	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	Silent	T	76083173	C	T	76083173	5	4	208	1	0	0	0	0	0	0	1	0	16339	898	31	2	3843	2	TNRC6C	17	76083173	Splice_Site	SNP	C	TCGA-28-5204-01A-01D-1486-08	8818982	76083173	5112037	38	14575											
ZNF554	115196	broad.mit.edu	37	chr19	2834236	2834236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggaaggtgttcaacCggaggcattctttgagcgaa	10	10	15	6	2	2	1	1	1	1	0	2	4	2	3	1	4	2	2	1	4	3	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:2834236C>T	ENST00000317243.5	+	5	1201	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTTCAACCGGAGGCATTC	0.532																																						uc002lwm.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1003-1005)Cgg>Tgg		Homo sapiens zinc finger protein 554 (ZNF554), mRNA.							78	84	82					19																	2834236		2047	4209	6256	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834236C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1003C>T	19.37:g.2834236C>T	ENSP00000321132:p.Arg335Trp					ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	p.R335W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1201	+		Hepatocellular(1079;0.137)	335					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1003C>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252649	0.22965	.	.	ENSG00000172006	ENST00000317243	T	0.07444	3.19	2.65	-1.11	0.09840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	L	0.58510	1.815	0.09310	N	0.999999	B	0.25235	0.121	B	0.10450	0.005	T	0.34950	-0.9808	9	0.51188	T	0.08	.	2.4423	0.04498	0.2346:0.4749:0.0:0.2905	.	335	Q86TJ5	ZN554_HUMAN	W	335	ENSP00000321132:R335W	ENSP00000321132:R335W	R	+	1	2	ZNF554	2785236	0.000000	0.05858	0.395000	0.26283	0.409000	0.31022	-2.131000	0.01311	-0.278000	0.09180	-0.323000	0.08544	CGG		0.532	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		T	2834236	C	T	2834236	3	4	208	1	0	0	0	0	1	0	0	0	17982	643	23	2	1021	2	ZNF554	19	2834236	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		2834236	56294747	39	14576											
LDLR	3949	broad.mit.edu	37	chr19	11222312	11222312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgaaggcctgcaaggctGtgggtgagcacgggaaggcg	10	4	18	9	3	0	1	0	1	0	0	0	3	0	2	1	5	2	3	1	5	3	0			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:11222312G>A	ENST00000558518.1	+	8	1370	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	LDLR_ENST00000535915.1_Missense_Mutation_p.V354M|LDLR_ENST00000558013.1_Missense_Mutation_p.V395M|LDLR_ENST00000545707.1_Missense_Mutation_p.V268M|LDLR_ENST00000557933.1_Missense_Mutation_p.V395M|LDLR_ENST00000455727.2_Missense_Mutation_p.V227M	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	395					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CTGCAAGGCTGTGGGTGAGCA	0.632																																					GBM(18;201 575 7820 21545)	uc002mqk.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1183-1185)Gtg>Atg		Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						36	36	36					19																	11222312		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11222312G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1183G>A	19.37:g.11222312G>A	ENSP00000454071:p.Val395Met					LDLR_uc010xlk.2_Missense_Mutation_p.V395M|LDLR_uc010xll.2_Missense_Mutation_p.V354M|LDLR_uc021upc.1_Missense_Mutation_p.V274M|LDLR_uc010xln.2_Missense_Mutation_p.V268M|LDLR_uc010xlo.2_Missense_Mutation_p.V227M|LDLR_uc010xlm.2_Missense_Mutation_p.V248M|LDLR_uc021upd.1_Missense_Mutation_p.V132M	p.V395M	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	7	1370	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	395					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1183G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.844017	0.32606	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90732	-2.69;-2.69;-2.72	5.56	-3.67	0.04476	Growth factor, receptor (1);	1.355660	0.05317	N	0.525868	D	0.91379	0.7280	M	0.64170	1.965	0.09310	N	1	P;B;B;B;B;B	0.34462	0.454;0.27;0.27;0.271;0.166;0.309	P;B;B;B;B;B	0.45343	0.477;0.377;0.382;0.291;0.382;0.382	D	0.84816	0.0793	10	0.54805	T	0.06	.	12.2133	0.54391	0.7911:0.0:0.2089:0.0	.	227;268;274;354;407;395	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	M	395;268;354;227	ENSP00000437639:V268M;ENSP00000440520:V354M;ENSP00000397829:V227M	ENSP00000252444:V395M	V	+	1	0	LDLR	11083312	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.032000	0.12266	-0.395000	0.07715	0.591000	0.81541	GTG		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11222312	G	A	11222312	3	1	208	1	0	0	0	0	1	0	0	0	8704	1377	48	3	1213	3	LDLR	19	11222312	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	8388076	11222312	47906671	40	14577											
RYR1	6261	broad.mit.edu	37	chr19	39008083	39008083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagacattggggggctggCcgagtcaggtgcccgctaca	7	6	17	11	2	1	1	1	0	0	1	1	2	1	1	2	6	2	3	2	6	1	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:39008083C>T	ENST00000359596.3	+	66	9770	c.9770C>T	c.(9769-9771)gCc>gTc	p.A3257V	RYR1_ENST00000355481.4_Missense_Mutation_p.A3257V|RYR1_ENST00000360985.3_Missense_Mutation_p.A3257V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3257					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGGGCTGGCCGAGTCAGGT	0.657																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9769-9771)gCc>gTc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						48	44	45					19																	39008083		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008083C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9770C>T	19.37:g.39008083C>T	ENSP00000352608:p.Ala3257Val					RYR1_uc002oiu.3_Missense_Mutation_p.A3257V|RYR1_uc002oiv.1_Missense_Mutation_p.A177V|RYR1_uc010xuf.1_Missense_Mutation_p.A177V	p.A3257V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		65	9900	+	all_cancers(60;7.91e-06)		3257					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9770C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	8.837	0.941242	0.18281	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.84589	-1.87;-1.87;-1.87	4.01	1.81	0.25067	.	0.000000	0.64402	U	0.000003	T	0.76608	0.4011	L	0.48642	1.525	0.44771	D	0.997776	B;B;B	0.20671	0.047;0.009;0.005	B;B;B	0.21151	0.033;0.012;0.005	T	0.64271	-0.6447	10	0.23891	T	0.37	.	7.5457	0.27766	0.165:0.745:0.0:0.0899	.	3257;3257;3257	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	V	3257;3257;3257;177	ENSP00000352608:A3257V;ENSP00000347667:A3257V;ENSP00000354254:A3257V	ENSP00000347667:A3257V	A	+	2	0	RYR1	43699923	1.000000	0.71417	0.978000	0.43139	0.105000	0.19272	5.823000	0.69272	0.327000	0.23409	0.205000	0.17691	GCC		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39008083	C	T	39008083	3	4	208	1	0	0	0	0	1	0	0	0	13768	739	26	3	10032	3	RYR1	19	39008083	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	27785771	39008083	20120900	41	14578											
ZNF235	9310	broad.mit.edu	37	chr19	44803797	44803797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttctccagcatcacaTctcggtacagcttcctctgg	9	12	7	13	1	4	0	1	0	3	0	7	0	5	0	2	2	3	4	2	2	3	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:44803797T>C	ENST00000291182.4	-	3	206	c.104A>G	c.(103-105)gAt>gGt	p.D35G	ZNF235_ENST00000589248.1_Missense_Mutation_p.D35G|ZNF235_ENST00000589799.1_Missense_Mutation_p.D35G	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAGCATCACATCTCGGTACAG	0.517																																						uc002oza.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(103-105)gAt>gGt		Homo sapiens zinc finger protein 235 (ZNF235), mRNA.							218	196	203					19																	44803797		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44803797T>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.104A>G	19.37:g.44803797T>C	ENSP00000291182:p.Asp35Gly					ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Missense_Mutation_p.D35G|ZNF235_uc002ozb.4_Missense_Mutation_p.D35G	p.D35G	NM_004234	NP_004225	Q14590	ZN235_HUMAN			2	207	-		Prostate(69;0.0352)|all_neural(266;0.116)	35			KRAB.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.104A>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801433	0.70682	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182	T	0.02837	4.14	4.05	4.05	0.47172	Krueppel-associated box (4);	0.456761	0.16298	N	0.220573	T	0.22166	0.0534	H	0.95504	3.68	0.34452	D	0.700813	D;D;D	0.89917	1.0;0.971;1.0	D;P;D	0.91635	0.992;0.783;0.999	T	0.45512	-0.9256	10	0.87932	D	0	.	11.231	0.48912	0.0:0.0:0.0:1.0	.	35;35;35	Q3KRA4;Q14590-2;Q14590	.;.;ZN235_HUMAN	G	35	ENSP00000291182:D35G	ENSP00000291182:D35G	D	-	2	0	ZNF235	49495637	0.620000	0.27068	0.814000	0.32528	0.987000	0.75469	2.822000	0.48073	1.800000	0.52685	0.533000	0.62120	GAT		0.517	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			C	44803797	T	C	44803797	3	2	208	1	0	0	0	0	1	0	0	0	17785	1435	50	4	2124	4	ZNF235	19	44803797	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	5795714	44803797	14325186	42	14579											
FPR2	2358	broad.mit.edu	37	chr19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggtggctggattccGgatgacacgcacagtcacca	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	2	4	0	2	2	4	0	1	rs192933693	byFrequency	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:52272072G>A	ENST00000598776.1	+	2	933	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_ENST00000598953.1_Missense_Mutation_p.R54Q|FPR2_ENST00000340023.6_Missense_Mutation_p.R54Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	54					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													G|||	2	0.000399361	0.0015	0	5008	,	,		20931	0		0	False		,,,				2504	0					uc002pxr.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(160-162)cGg>cAg		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							200	158	172					19																	52272072		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272072G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.161G>A	19.37:g.52272072G>A	ENSP00000468897:p.Arg54Gln					FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN			1	206	+			54					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.161G>A	CCDS12840.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	17.74	3.464087	0.63513	.	.	ENSG00000171049	ENST00000340023	T	0.40756	1.02	3.61	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.335546	0.27696	U	0.018226	T	0.33498	0.0865	L	0.41632	1.29	0.31442	N	0.671801	P	0.41345	0.746	B	0.42188	0.379	T	0.34229	-0.9837	10	0.32370	T	0.25	.	9.2399	0.37489	0.1118:0.0:0.8882:0.0	.	54	P25090	FPR2_HUMAN	Q	54	ENSP00000340191:R54Q	ENSP00000340191:R54Q	R	+	2	0	FPR2	56963884	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	0.896000	0.28377	0.885000	0.36088	-0.333000	0.08304	CGG		0.562	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		A	52272072	G	A	52272072	3	1	208	1	0	0	0	0	1	0	0	0	6039	1116	39	2	163	2	FPR2	19	52272072	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	7468275	52272072	6856911	43	14580											
UBE2M	9040	broad.mit.edu	37	chr19	59067682	59067682	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccacctattcctactcaCcaagaagagatactgcaggc	14	7	6	14	0	1	2	1	0	0	2	2	3	2	2	4	1	4	1	4	1	6	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:59067682C>T	ENST00000253023.3	-	5	990		c.e5+1		CHMP2A_ENST00000601220.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000312547.2_5'Flank|CHMP2A_ENST00000600118.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M						cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCCTACTCACCAAGAAGAGA	0.552																																						uc002qtl.4																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.e5+1		Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.							99	101	100					19																	59067682		2203	4300	6503	SO:0001630	splice_region_variant	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59067682C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.411+1G>A	19.37:g.59067682C>T						CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	p.L137_splice	NM_003969	NP_003960	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	1006	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	137					O76069|Q8VC50	Splice_Site	SNP	ENST00000253023.3	37	c.411_splice	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	.	19.59	3.856741	0.71834	.	.	ENSG00000130725	ENST00000253023	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.356	0.74428	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBE2M	63759494	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.068000	0.50018	2.582000	0.87167	0.655000	0.94253	.		0.552	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969	Intron	T	59067682	C	T	59067682	5	4	208	1	0	0	0	0	0	0	1	0	16862	521	18	3	147	3	UBE2M	19	59067682	Splice_Site	SNP	C	TCGA-28-5204-01A-01D-1486-08	6795610	59067682	61301	44	14581											
MATN4	8785	broad.mit.edu	37	chr20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagcgacccagagggaactCggtgcgcacgcggctcgaga	9	4	16	12	6	0	2	0	0	0	2	2	5	0	3	1	3	3	3	1	3	2	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr20:43927050C>T	ENST00000372754.1	-	7	1317	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MATN4_ENST00000342716.4_Missense_Mutation_p.E396K|MATN4_ENST00000372751.4_Missense_Mutation_p.E247K|MATN4_ENST00000372756.1_Missense_Mutation_p.E396K|MATN4_ENST00000353917.5_Missense_Mutation_p.E314K|MATN4_ENST00000360607.6_Missense_Mutation_p.E355K|MATN4_ENST00000537548.1_Missense_Mutation_p.E396K			O95460	MATN4_HUMAN	matrilin 4	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1186-1188)Gag>Aag		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							51	46	48					20																	43927050		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43927050C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1309G>A	20.37:g.43927050C>T	ENSP00000361840:p.Glu437Lys					MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN			6	1373	-		Myeloproliferative disorder(115;0.0122)	437			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.663951	0.96745	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.45	5.45	0.79879	.	0.000000	0.44688	D	0.000433	D	0.94584	0.8255	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.91635	0.999;0.866;0.998	D	0.95673	0.8725	10	0.87932	D	0	.	18.3404	0.90303	0.0:1.0:0.0:0.0	.	314;355;396	A6NNA4;O95460-4;O95460-2	.;.;.	K	247;437;396;314;355;396;396;437;247	ENSP00000361839:E247K;ENSP00000361840:E437K;ENSP00000361842:E396K;ENSP00000243983:E314K;ENSP00000353819:E355K;ENSP00000343164:E396K;ENSP00000440328:E396K;ENSP00000361837:E247K	ENSP00000255132:E437K	E	-	1	0	MATN4	43360464	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.764000	0.85297	2.562000	0.86427	0.650000	0.86243	GAG		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			T	43927050	C	T	43927050	3	4	208	1	0	0	0	0	1	0	0	0	9336	893	31	2	575	2	MATN4	20	43927050	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		43927050	19098470	45	14582											
USP25	29761	broad.mit.edu	37	chr21	17199405	17199405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccatttactcagtccCggatacctccagatttgccc	11	10	5	15	1	1	1	1	0	0	1	3	2	3	2	5	1	4	0	5	1	3	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:17199405C>T	ENST00000285679.6	+	14	1945	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.R526W|USP25_ENST00000400183.2_Missense_Mutation_p.R526W	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	526	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACTCAGTCCCGGATACCTCC	0.473																																						uc011aby.1																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1576-1578)Cgg>Tgg		Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.							152	132	139					21																	17199405		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17199405C>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1576C>T	21.37:g.17199405C>T	ENSP00000285679:p.Arg526Trp					USP25_uc002yjz.1_Missense_Mutation_p.R526W|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.R526W	p.R526W	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	13	1793	+			526					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1576C>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539534	0.85917	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.26660	1.74;1.72;1.73	4.6	3.63	0.41609	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.992;0.998	T	0.53222	-0.8469	10	0.72032	D	0.01	.	14.1631	0.65459	0.1507:0.8493:0.0:0.0	.	526;526;526	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	W	526	ENSP00000285681:R526W;ENSP00000285679:R526W;ENSP00000383044:R526W	ENSP00000285679:R526W	R	+	1	2	USP25	16121276	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.665000	0.54532	2.478000	0.83669	0.557000	0.71058	CGG		0.473	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			T	17199405	C	T	17199405	3	4	208	1	0	0	0	0	1	0	0	0	17053	643	23	2	1630	2	USP25	21	17199405	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		17199405	30930490	46	14583											
NEFH	4744	broad.mit.edu	37	chr22	29886478	29886478	+	Frame_Shift_Del	DEL	C	C	-																															accagcagagaagaaggaggCagcaccggagaaaaaagaca																								rs553629461		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:29886478delC	ENST00000310624.6	+	4	2882	c.2849delC	c.(2848-2850)gcafs	p.A951fs		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	957	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGAAGGAGGCAGCACCGGAG	0.512																																						uc003afo.3																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2848-2850)gcafs		Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.							109	101	104					22																	29886478		2203	4299	6502	SO:0001589	frameshift_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886478delC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2849delC	22.37:g.29886478delC	ENSP00000311997:p.Ala951fs					KIAA0845_uc003afp.3_Frame_Shift_Del_p.Q16fs	p.A950fs	NM_021076	NP_066554	P12036	NFH_HUMAN			3	2920	+			956			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Frame_Shift_Del	DEL	ENST00000310624.6	37	c.2849delC	CCDS13858.1																																																																																				0.512	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		-	29886478	C	-	29886478	7	5	208	1	0	1	0	1	0	0	0	0	10314	710	25	0	2863	0	NEFH	22	29886478	Frame_Shift_Del	DEL	C	TCGA-28-5204-01A-01D-1486-08		29886478	21418088	47	14584											
GGA1	26088	broad.mit.edu	37	chr22	38016358	38016366	+	In_Frame_Del	DEL	AAAGAAGCA	AAAGAAGCA	-																															gcagaggcctaccagatgctAaagaagcagggtgaggcaca																										TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:38016358_38016366delAAAGAAGCA	ENST00000343632.4	+	5	803_811	c.417_425delAAAGAAGCA	c.(415-426)ctaaagaagcag>ctg	p.KKQ140del	GGA1_ENST00000325180.8_In_Frame_Del_p.KKQ140del|GGA1_ENST00000337437.4_In_Frame_Del_p.KKQ107del|GGA1_ENST00000381756.5_In_Frame_Del_p.KKQ157del|GGA1_ENST00000406772.1_In_Frame_Del_p.KKQ67del	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	140	Interaction with ARF3.|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCAGATGCTAAAGAAGCAGGGTGAGGCA	0.617																																						uc003atc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(415-426)ctaaagaagcag>ctg		Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38016358_38016366delAAAGAAGCA	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.417_425delAAAGAAGCA	22.37:g.38016358_38016366delAAAGAAGCA	ENSP00000341344:p.Lys140_Gln142del					GGA1_uc003ate.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atd.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.3_In_Frame_Del_p.KKQ67del	p.KKQ140del	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN			4	804_812	+	Melanoma(58;0.0574)		140			Interaction with ARF3.|VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	In_Frame_Del	DEL	ENST00000343632.4	37	c.417_425delAAAGAAGCA	CCDS13951.1																																																																																				0.617	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		-	38016366	AAAGAAGCA	-	38016358	7	5	208	1	0	1	0	1	0	0	0	0	6352	349	13	0	501	0	GGA1	22	38016358	In_Frame_Del	DEL	AAAGAAGCA	TCGA-28-5204-01A-01D-1486-08	8129880	38016358	13288208	48	14585											
KIAA2022	340533	broad.mit.edu	37	chrX	73961437	73961437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagccgaccatcatcCatattgactggcccctgctg	10	9	8	14	1	1	2	1	1	0	1	2	3	2	2	5	1	2	1	5	1	3	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:73961437C>T	ENST00000055682.6	-	3	3566	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	985					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GACCATCATCCATATTGACTG	0.448																																						uc004eby.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(2953-2955)atG>atA		Homo sapiens KIAA2022 (KIAA2022), mRNA.							81	70	74					X																	73961437		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961437C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2955G>A	X.37:g.73961437C>T	ENSP00000055682:p.Met985Ile						p.M985I	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	3572	-			985					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.2955G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	9.481	1.098241	0.20552	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28666	1.6;1.6	5.58	-0.23	0.13090	.	0.415259	0.27831	N	0.017664	T	0.11922	0.0290	N	0.08118	0	0.20975	N	0.999819	B	0.02656	0.0	B	0.01281	0.0	T	0.13388	-1.0511	10	0.72032	D	0.01	1.7809	2.5079	0.04649	0.1195:0.3691:0.1167:0.3946	.	985	Q5QGS0	K2022_HUMAN	I	985	ENSP00000362567:M985I;ENSP00000055682:M985I	ENSP00000055682:M985I	M	-	3	0	KIAA2022	73878162	0.997000	0.39634	0.035000	0.18076	0.899000	0.52679	0.408000	0.21065	-0.093000	0.12396	0.600000	0.82982	ATG		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73961437	C	T	73961437	3	4	208	1	0	0	0	0	1	0	0	0	8269	594	21	3	1603	3	KIAA2022	23	73961437	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		73961437	81309123	49	14586											
IRS4	8471	broad.mit.edu	37	chrX	107977902	107977902	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctctggccaccacctGaaccgtgcccacctgcggtg	6	7	11	17	2	1	1	0	1	1	0	2	1	1	1	6	3	3	0	6	3	1	0			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:107977902G>T	ENST00000372129.2	-	1	1749	c.1673C>A	c.(1672-1674)tCa>tAa	p.S558*	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	558					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCACCTGAACCGTGCCC	0.657																																						uc004eoc.2																			0		p.G557R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1672-1674)tCa>tAa		Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.							117	118	118					X																	107977902		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977902G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1673C>A	X.37:g.107977902G>T	ENSP00000361202:p.Ser558*						p.S558*	NM_003604	NP_003595	O14654	IRS4_HUMAN			0	1706	-			558						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.1673C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733969	0.96865	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.88	4.88	0.63580	.	0.173539	0.38837	N	0.001547	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-11.6804	12.2979	0.54859	0.0:0.0:1.0:0.0	.	.	.	.	X	558	.	ENSP00000361202:S558X	S	-	2	0	IRS4	107864558	0.981000	0.34729	0.091000	0.20842	0.719000	0.41307	7.066000	0.76734	2.392000	0.81423	0.600000	0.82982	TCA		0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107977902	G	T	107977902	4	4	208	1	0	0	0	0	0	1	0	0	7842	1294	45	5	2104	5	IRS4	23	107977902	Nonsense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	34016465	107977902	47292658	50	14587											
NOL9	79707	broad.mit.edu	37	chr1	6589196	6589196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaggggcgacatcagaGtgggtaatccggagtgcgac	9	7	18	7	3	1	1	1	0	0	1	2	4	2	2	1	5	1	2	1	5	2	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:6589196G>T	ENST00000377705.5	-	10	1715	c.1683C>A	c.(1681-1683)caC>caA	p.H561Q		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	561					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CGACATCAGAGTGGGTAATCC	0.463																																						uc001ans.3																			0		p.T560I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1681-1683)caC>caA		Homo sapiens nucleolar protein 9 (NOL9), mRNA.							103	89	94					1																	6589196		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6589196G>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1683C>A	1.37:g.6589196G>T	ENSP00000366934:p.His561Gln					NOL9_uc010nzs.2_Non-coding_Transcript	p.H561Q	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	9	1779	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	561					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1683C>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757212	0.49468	.	.	ENSG00000162408	ENST00000377705	T	0.40476	1.03	5.66	-1.84	0.07809	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.85542	2.76	0.23616	N	0.997288	D	0.89917	1.0	D	0.91635	0.999	T	0.55231	-0.8173	10	0.28530	T	0.3	-35.6565	10.732	0.46102	0.6072:0.0:0.3928:0.0	.	561	Q5SY16	NOL9_HUMAN	Q	561	ENSP00000366934:H561Q	ENSP00000366934:H561Q	H	-	3	2	NOL9	6511783	0.002000	0.14202	0.000000	0.03702	0.617000	0.37484	-0.419000	0.07071	-0.385000	0.07833	0.561000	0.74099	CAC		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		T	6589196	G	T	6589196	3	4	209	1	0	0	0	0	1	0	0	0	10528	1020	36	5	437	5	NOL9	1	6589196	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		6589196	242661425	1	14588											
MACF1	23499	broad.mit.edu	37	chr1	39800817	39800817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttgggtgcaaggatcaaCgtaagccaagaatgtcttca	14	10	10	7	1	3	1	2	0	1	1	3	2	3	2	1	2	3	2	1	2	6	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:39800817C>T	ENST00000372915.3	+	36	8659	c.8572C>T	c.(8572-8574)Cgt>Tgt	p.R2858C	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.R2853C|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2890C|MACF1_ENST00000289893.4_Missense_Mutation_p.R1293C|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2858					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGGATCAACGTAAGCCAAG	0.398																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3877-3879)Cgt>Tgt		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							61	65	64					1																	39800817		2199	4298	6497	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800817C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8572C>T	1.37:g.39800817C>T	ENSP00000362006:p.Arg2858Cys					MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	p.R1293C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		0	3877	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2858					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3877C>T		.	.	.	.	.	.	.	.	.	.	C	8.002	0.755537	0.15846	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61859	0.07;1.17	5.64	2.73	0.32206	.	1.396130	0.04664	N	0.409468	T	0.42449	0.1203	N	0.08118	0	0.09310	N	1	P	0.34934	0.476	B	0.39068	0.289	T	0.44997	-0.9291	10	0.87932	D	0	.	6.2907	0.21059	0.1715:0.1585:0.6701:0.0	.	2858	Q9UPN3	MACF1_HUMAN	C	2858;1293	ENSP00000362006:R2858C;ENSP00000289893:R1293C	ENSP00000289893:R1293C	R	+	1	0	MACF1	39573404	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.115000	0.15540	0.748000	0.32831	-0.340000	0.08031	CGT		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39800817	C	T	39800817	3	4	209	1	0	0	0	0	1	0	0	0	9144	536	19	1	8648	1	MACF1	1	39800817	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	33211621	39800817	209449804	2	14589											
HYI	81888	broad.mit.edu	37	chr1	43917642	43917642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtactgggggtcagTgatgcgggtgttgatgggct	7	10	19	5	1	1	2	1	2	0	0	1	3	1	3	0	5	2	3	0	5	2	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:43917642T>C	ENST00000372425.4	-	4	664	c.469A>G	c.(469-471)Act>Gct	p.T157A	SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.T157A|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000583037.1_Missense_Mutation_p.T84A|HYI_ENST00000372434.1_Missense_Mutation_p.T182A|HYI_ENST00000372426.1_Missense_Mutation_p.T109A|HYI_ENST00000372432.1_Missense_Mutation_p.T157A			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	157							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGGTCAGTGATGCGGGTG	0.587																																						uc001cjo.3																			0		p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(469-471)Act>Gct		Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA.							105	110	108					1																	43917642		2203	4300	6503	SO:0001583	missense	81888						hydroxypyruvate isomerase activity	g.chr1:43917642T>C		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.469A>G	1.37:g.43917642T>C	ENSP00000361502:p.Thr157Ala					SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.T84A|HYI_uc001cjm.3_Missense_Mutation_p.T84A|HYI_uc021omq.1_Missense_Mutation_p.T182A|HYI_uc001cjn.3_Missense_Mutation_p.T157A	p.T157A	NM_001190880	NP_001177809	Q5T013	HYI_HUMAN			3	665	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	157					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.469A>G	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212148	0.58452	.	.	ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.38	4.25	0.50352	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);	0.097408	0.64402	D	0.000001	T	0.34454	0.0898	L	0.38531	1.155	0.46586	D	0.999116	B	0.21753	0.06	B	0.23716	0.048	T	0.15896	-1.0421	10	0.72032	D	0.01	.	11.3711	0.49699	0.0:0.0715:0.0:0.9285	.	157	Q5T013	HYI_HUMAN	A	157;75;109;84;157;90;109;157	ENSP00000361502:T157A;ENSP00000361509:T157A;ENSP00000361503:T109A;ENSP00000428399:T157A	ENSP00000361502:T157A	T	-	1	0	HYI	43690229	1.000000	0.71417	0.515000	0.27774	0.981000	0.71138	7.663000	0.83820	0.997000	0.38969	0.379000	0.24179	ACT		0.587	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		C	43917642	T	C	43917642	3	2	209	1	0	0	0	0	1	0	0	0	7468	1696	59	4	384	4	HYI	1	43917642	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	4116825	43917642	205332979	3	14590											
FCRL2	79368	broad.mit.edu	37	chr1	157740305	157740305	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaaaactgcactttggatAaggaaatctgagaatttttt	14	15	7	5	0	1	1	0	1	1	1	1	4	1	3	0	2	2	1	0	2	5	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:157740305A>T	ENST00000361516.3	-	3	252	c.204T>A	c.(202-204)ctT>ctA	p.L68L	FCRL2_ENST00000368181.4_Silent_p.L68L|FCRL2_ENST00000392274.3_Silent_p.L68L|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	68	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTTTGGATAAGGAAATCTG	0.338																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(202-204)ctT>ctA		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							80	87	85					1																	157740305		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157740305A>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.204T>A	1.37:g.157740305A>T						FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	p.L68L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	263	-	all_hematologic(112;0.0378)		68			Ig-like C2-type 1.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.204T>A	CCDS1168.1																																																																																				0.338	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		T	157740305	A	T	157740305	2	4	209	1	0	0	0	0	0	0	0	1	5795	349	13	5		5	FCRL2	1	157740305	Silent	SNP	A	TCGA-28-5207-01A-01D-1486-08	113822663	157740305	91510316	4	14591											
ZBTB37	84614	broad.mit.edu	37	chr1	173840057	173840057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtggcggaccgtgggggtCggagtgatgatgaagttaga	9	8	20	4	3	0	4	0	3	0	1	1	7	0	6	1	5	0	1	1	5	2	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:173840057C>T	ENST00000367701.5	+	2	885	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	ZBTB37_ENST00000367702.1_Missense_Mutation_p.R232W|ZBTB37_ENST00000432989.1_Missense_Mutation_p.R232W|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R232W|ZBTB37_ENST00000367704.1_Missense_Mutation_p.R232W			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGTGGGGGTCGGAGTGATGA	0.522																																						uc009wwp.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(694-696)Cgg>Tgg		Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.							74	77	76					1																	173840057		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173840057C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.694C>T	1.37:g.173840057C>T	ENSP00000356674:p.Arg232Trp					GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.R232W|ZBTB37_uc001gjq.4_Missense_Mutation_p.R232W|ZBTB37_uc001gjr.2_Missense_Mutation_p.R232W	p.R232W	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			2	970	+			232					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.694C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067397	0.76301	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.76578	-1.0;2.6;-1.03;-1.03;2.6	5.9	4.96	0.65561	.	0.160350	0.56097	D	0.000028	T	0.63058	0.2479	N	0.24115	0.695	0.48830	D	0.999717	D;D	0.62365	0.975;0.991	B;P	0.46975	0.232;0.533	T	0.71217	-0.4658	10	0.72032	D	0.01	.	16.859	0.86013	0.0:0.8716:0.1284:0.0	.	232;232	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	W	232;232;232;232;140;232	ENSP00000356677:R232W;ENSP00000415293:R232W;ENSP00000409408:R232W;ENSP00000356675:R232W;ENSP00000356674:R232W	ENSP00000356674:R232W	R	+	1	2	ZBTB37	172106680	0.892000	0.30473	0.749000	0.31150	0.993000	0.82548	1.804000	0.38873	1.438000	0.47492	0.563000	0.77884	CGG		0.522	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		T	173840057	C	T	173840057	3	4	209	1	0	0	0	0	1	0	0	0	17535	875	31	2	696	2	ZBTB37	1	173840057	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	16099752	173840057	75410564	5	14592											
HMCN1	83872	broad.mit.edu	37	chr1	186099745	186099745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaccccaaccatccaGtggaacagaaagggagtgga	14	3	11	13	0	0	1	0	0	0	1	1	5	1	4	6	3	2	0	6	3	3	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:186099745G>A	ENST00000271588.4	+	85	13375	c.13146G>A	c.(13144-13146)caG>caA	p.Q4382Q	HMCN1_ENST00000367492.2_Silent_p.Q4382Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4382	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACCATCCAGTGGAACAGAA	0.488																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13144-13146)caG>caA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							108	106	107					1																	186099745		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099745G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13146G>A	1.37:g.186099745G>A						MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	p.Q4382Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			84	13375	+			4382			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13146G>A	CCDS30956.1																																																																																				0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186099745	G	A	186099745	2	1	209	1	0	0	0	0	0	0	0	1	7220	1020	36	3		3	HMCN1	1	186099745	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	12259688	186099745	63150876	6	14593											
ASPM	259266	broad.mit.edu	37	chr1	197062332	197062332	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagatttctgccgaagaaaGacctgccttcctttatatcc	10	12	7	12	1	1	3	0	0	1	3	3	4	3	3	5	0	2	1	5	0	4	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:197062332G>C	ENST00000367409.4	-	21	9400	c.9144C>G	c.(9142-9144)gtC>gtG	p.V3048V	ASPM_ENST00000294732.7_Silent_p.V1463V|ASPM_ENST00000367408.1_Silent_p.V713V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3048	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCGAAGAAAGACCTGCCTTC	0.348																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9142-9144)gtC>gtG		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							76	83	81					1																	197062332		2202	4299	6501	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062332G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9144C>G	1.37:g.197062332G>C						ASPM_uc001gtv.3_Silent_p.V1463V|ASPM_uc001gtw.4_Silent_p.V896V	p.V3048V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			20	9401	-			3048			IQ 36.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9144C>G	CCDS1389.1																																																																																				0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		C	197062332	G	C	197062332	2	2	209	1	0	0	0	0	0	0	0	1	1056	929	33	5		5	ASPM	1	197062332	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	10962587	197062332	52188289	7	14594											
USH2A	7399	broad.mit.edu	37	chr1	216465647	216465647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgacaaggtttacaattGaaagcgtaaacttgatcacc	15	11	7	8	1	1	3	1	3	0	0	1	3	1	3	1	1	3	2	1	1	6	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:216465647G>C	ENST00000307340.3	-	10	2096	c.1710C>G	c.(1708-1710)ttC>ttG	p.F570L	USH2A_ENST00000366943.2_Missense_Mutation_p.F570L|USH2A_ENST00000366942.3_Missense_Mutation_p.F570L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	570	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTACAATTGAAAGCGTAAA	0.413										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1708-1710)ttC>ttG		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							109	101	104					1																	216465647		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465647G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1710C>G	1.37:g.216465647G>C	ENSP00000305941:p.Phe570Leu	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.F570L	p.F570L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	9	2097	-			570			Laminin EGF-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1710C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991707	0.35131	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62232	0.04;0.04;0.04	4.81	1.16	0.20824	EGF-like, laminin (2);	0.171047	0.27851	U	0.017596	T	0.55561	0.1928	M	0.72894	2.215	0.33315	D	0.566536	B;D	0.56521	0.01;0.976	B;P	0.46659	0.012;0.523	T	0.61778	-0.6993	10	0.33141	T	0.24	.	2.1056	0.03690	0.4383:0.0:0.3184:0.2433	.	570;570	O75445-2;O75445	.;USH2A_HUMAN	L	570	ENSP00000305941:F570L;ENSP00000355910:F570L;ENSP00000355909:F570L	ENSP00000305941:F570L	F	-	3	2	USH2A	214532270	1.000000	0.71417	0.090000	0.20809	0.942000	0.58702	2.257000	0.43240	1.036000	0.39998	0.467000	0.42956	TTC		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216465647	G	C	216465647	3	2	209	1	0	0	0	0	1	0	0	0	17033	1281	45	5	14164	5	USH2A	1	216465647	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	19403315	216465647	32784974	8	14595											
OR2T27	403239	broad.mit.edu	37	chr1	248814129	248814129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaggggaaacgggcgttGctgaacaaacccagaaggat	14	4	14	9	2	0	2	0	1	0	1	0	4	0	4	2	4	5	2	2	4	4	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:248814129G>T	ENST00000344889.3	-	1	56	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACGGGCGTTGCTGAACAAAC	0.468																																						uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(55-57)agC>agA		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.							88	80	83					1																	248814129		2203	4300	6503	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814129G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.57C>A	1.37:g.248814129G>T	ENSP00000342008:p.Ser19Arg						p.S19R	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	57	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	19						Missense_Mutation	SNP	ENST00000344889.3	37	c.57C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	2.780	-0.253765	0.05829	.	.	ENSG00000187701	ENST00000344889	T	0.00330	8.08	3.3	0.0288	0.14160	.	0.000000	0.47455	D	0.000237	T	0.00178	0.0005	L	0.42632	1.34	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.42172	-0.9467	10	0.33940	T	0.23	.	3.8744	0.09050	0.3104:0.0:0.52:0.1696	.	19	Q8NH04	O2T27_HUMAN	R	19	ENSP00000342008:S19R	ENSP00000342008:S19R	S	-	3	2	OR2T27	246880752	0.000000	0.05858	0.014000	0.15608	0.064000	0.16182	-0.041000	0.12084	-0.090000	0.12462	0.194000	0.17425	AGC		0.468	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		T	248814129	G	T	248814129	3	4	209	1	0	0	0	0	1	0	0	0	11021	1310	46	5	899	5	OR2T27	1	248814129	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	32348482	248814129	436492	9	14596											
SNTG2	54221	broad.mit.edu	37	chr2	1271233	1271233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctattgcttcagcatcGtggccggccatgggaagagc	7	8	14	12	2	1	1	1	0	0	1	2	2	1	2	3	4	3	2	3	4	2	3	rs374477415		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:1271233G>A	ENST00000308624.5	+	14	1303	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	SNTG2_ENST00000407292.1_Missense_Mutation_p.V265M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	392	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTCAGCATCGTGGCCGGCCA	0.522																																						uc002qwq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1174-1176)Gtg>Atg		Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.		G	MET/VAL	0,3890		0,0,1945	51	50	51		1174	-9.2	0	2		51	1,8265		0,1,4132	no	missense	SNTG2	NM_018968.3	21	0,1,6077	AA,AG,GG		0.0121,0.0,0.0082	benign	392/540	1271233	1,12155	1945	4133	6078	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271233G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1174G>A	2.37:g.1271233G>A	ENSP00000311837:p.Val392Met					SNTG2_uc010ewi.3_Missense_Mutation_p.V265M	p.V392M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1303	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	392			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1174G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457610	0.04508	0.0	1.21E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68765	1.42;-0.35	4.61	-9.23	0.00672	Pleckstrin homology domain (1);	0.606658	0.17376	N	0.176493	T	0.26122	0.0637	N	0.00926	-1.1	0.09310	N	1	B;B	0.26258	0.145;0.019	B;B	0.13407	0.009;0.004	T	0.30119	-0.9989	10	0.42905	T	0.14	.	10.2437	0.43328	0.1853:0.5442:0.2705:0.0	.	265;392	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	M	392;265	ENSP00000311837:V392M;ENSP00000385020:V265M	ENSP00000311837:V392M	V	+	1	0	SNTG2	1253814	0.058000	0.20735	0.000000	0.03702	0.000000	0.00434	0.056000	0.14256	-2.397000	0.00581	-2.048000	0.00412	GTG		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		A	1271233	G	A	1271233	3	1	209	1	0	0	0	0	1	0	0	0	14875	1145	40	1	1228	1	SNTG2	2	1271233	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		1271233	241928140	10	14597											
STRN	6801	broad.mit.edu	37	chr2	37152302	37152302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcacaagatccttcTtcaaattttcttggcccttc	7	16	3	15	0	4	1	2	0	2	1	8	1	7	1	4	1	0	0	4	1	2	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:37152302T>C	ENST00000263918.4	-	2	292	c.284A>G	c.(283-285)aAg>aGg	p.K95R	STRN_ENST00000379213.2_Missense_Mutation_p.K83R	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	95					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAGATCCTTCTTCAAATTTTC	0.368																																						uc002rpn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(283-285)aAg>aGg		Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.							72	76	74					2																	37152302		2203	4298	6501	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37152302T>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.284A>G	2.37:g.37152302T>C	ENSP00000263918:p.Lys95Arg					STRN_uc010ezx.3_Missense_Mutation_p.K95R	p.K95R	NM_003162	NP_003153	O43815	STRN_HUMAN			1	293	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	95					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.284A>G	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806048	0.90623	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.72394	-0.65;-0.61	5.04	5.04	0.67666	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.58620	0.961;0.983	D;D	0.75484	0.939;0.986	T	0.82041	-0.0654	10	0.45353	T	0.12	-15.7916	13.7519	0.62912	0.0:0.0:0.0:1.0	.	83;95	O43815-2;O43815	.;STRN_HUMAN	R	95;70;83	ENSP00000263918:K95R;ENSP00000368513:K83R	ENSP00000263918:K95R	K	-	2	0	STRN	37005806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	1.875000	0.54330	0.528000	0.53228	AAG		0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			C	37152302	T	C	37152302	3	2	209	1	0	0	0	0	1	0	0	0	15328	1609	56	4	2126	4	STRN	2	37152302	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	35881069	37152302	206047071	11	14598											
SOCS5	9655	broad.mit.edu	37	chr2	46987001	46987001	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcgacgcccatgacccGtgtgtatttcactcctccac	7	12	7	15	3	1	1	1	1	0	0	4	2	3	1	4	0	0	2	4	0	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:46987001G>T	ENST00000306503.5	+	2	1504	c.1332G>T	c.(1330-1332)ccG>ccT	p.P444P	SOCS5_ENST00000394861.2_Silent_p.P444P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	444	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCATGACCCGTGTGTATTTC	0.443																																						uc021vgx.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1330-1332)ccG>ccT		Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.							131	126	128					2																	46987001		2203	4300	6503	SO:0001819	synonymous_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987001G>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1332G>T	2.37:g.46987001G>T						SOCS5_uc002rvf.3_Silent_p.P444P|SOCS5_uc002rvg.3_Silent_p.P444P	p.P444P	NM_144949	NP_659198	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		0	1332	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	444			SH2.		Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	c.1332G>T	CCDS1830.1																																																																																				0.443	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			T	46987001	G	T	46987001	2	4	209	1	0	0	0	0	0	0	0	1	14917	1132	40	5		5	SOCS5	2	46987001	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	9834699	46987001	196212372	12	14599											
IL1R1	3554	broad.mit.edu	37	chr2	102793083	102793083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttacacagggaccacagtCtgcaaagacaaggttctgga	13	8	10	10	0	2	1	0	0	2	1	2	3	2	3	1	3	2	2	1	3	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:102793083C>T	ENST00000410023.1	+	12	1892	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	IL1R1_ENST00000409929.1_Missense_Mutation_p.S494F|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.S525F|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	525	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGACCACAGTCTGCAAAGACA	0.468																																						uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1573-1575)tCt>tTt		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)						62	60	61					2																	102793083		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102793083C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1574C>T	2.37:g.102793083C>T	ENSP00000386380:p.Ser525Phe					IL1R1_uc010fix.3_Missense_Mutation_p.S494F|IL1R1_uc002tbr.3_Missense_Mutation_p.S525F	p.S525F	NM_000877	NP_000868	P14778	IL1R1_HUMAN			11	1892	+			525			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1574C>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497332	0.64186	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.09538	2.97;2.97;2.97	5.82	4.95	0.65309	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.579168	0.19252	N	0.118885	T	0.33990	0.0882	M	0.83384	2.64	0.36811	D	0.885865	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.973	T	0.40553	-0.9557	10	0.72032	D	0.01	.	10.2714	0.43485	0.0:0.8492:0.0:0.1508	.	494;525	B8ZZW4;P14778	.;IL1R1_HUMAN	F	494;525;525	ENSP00000386776:S494F;ENSP00000386380:S525F;ENSP00000233946:S525F	ENSP00000233946:S525F	S	+	2	0	IL1R1	102159515	0.380000	0.25131	0.455000	0.27031	0.868000	0.49771	2.825000	0.48096	1.460000	0.47911	0.557000	0.71058	TCT		0.468	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			T	102793083	C	T	102793083	3	4	209	1	0	0	0	0	1	0	0	0	7658	913	32	3	1612	3	IL1R1	2	102793083	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	55806082	102793083	140406290	13	14600											
LCT	3938	broad.mit.edu	37	chr2	136558294	136558294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggcgcggtacacatcGttgtacagatgccaggcctc	8	9	12	12	3	0	2	0	1	0	1	2	2	0	2	2	3	3	3	2	3	2	3	rs374549487	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:136558294G>A	ENST00000264162.2	-	12	4759	c.4749C>T	c.(4747-4749)aaC>aaT	p.N1583N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1583	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTACACATCGTTGTACAGAT	0.537													G|||	2	0.000399361	0	0	5008	,	,		19730	0		0	False		,,,				2504	0.002					uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4747-4749)aaC>aaT		Homo sapiens lactase (LCT), mRNA.		G		0,4406		0,0,2203	95	87	89		4749	-9.6	0	2		89	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	LCT	NM_002299.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1583/1928	136558294	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136558294G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4749C>T	2.37:g.136558294G>A							p.N1583N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	11	4760	-			1583			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4749C>T	CCDS2178.1																																																																																				0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136558294	G	A	136558294	2	1	209	1	0	0	0	0	0	0	0	1	8693	1136	40	1		1	LCT	2	136558294	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	33765211	136558294	106641079	14	14601											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381721	144381721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgaatttggaCgacagccagtgggaggacat	14	6	15	6	1	0	2	0	1	0	1	0	8	0	5	1	3	2	1	1	3	3	1	rs138120208	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:144381721C>T	ENST00000295095.6	+	12	1190	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448																																						uc002tvm.4																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1021-1023)gaC>gaT		Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.		C		0,4406		0,0,2203	89	85	86		1023	4.4	1	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP15	NM_018460.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		341/476	144381721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381721C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1023C>T	2.37:g.144381721C>T						ARHGAP15_uc002tvn.3_Silent_p.D107D	p.D341D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1174	+			341			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1023C>T	CCDS2184.1																																																																																				0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		T	144381721	C	T	144381721	2	4	209	1	0	0	0	0	0	0	0	1	866	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	7823427	144381721	98817652	15	14602											
TTN	7273	broad.mit.edu	37	chr2	179647001	179647001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggggctttgggttgccGccaacttggcatccaaacac	9	9	11	12	1	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	3	rs141768043		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:179647001G>A	ENST00000591111.1	-	20	3542	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_ENST00000460472.2_Silent_p.G1060G|TTN_ENST00000359218.5_Silent_p.G1060G|TTN_ENST00000342992.6_Silent_p.G1106G|TTN_ENST00000342175.6_Silent_p.G1060G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Silent_p.G1106G|TTN_ENST00000360870.5_Silent_p.G1106G			Q8WZ42	TITIN_HUMAN	titin	33325	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(3316-3318)ggC>ggT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,,	3,4403	6.2+/-15.9	0,3,2200	83	81	81		3180,3318,3318,3180,3180	-11.2	0.1	2	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	1060/26927,1106/33424,1106/5605,1060/27052,1060/27119	179647001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647001G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3318C>T	2.37:g.179647001G>A						TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		19	3543	-			1106			Ig-like 4.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3318C>T																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179647001	G	A	179647001	2	1	209	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	35265280	179647001	63552372	16	14603											
LRIG1	26018	broad.mit.edu	37	chr3	66432740	66432740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgagggccaccctcggtCctgaccacggtttcttgtcg	4	10	12	15	3	1	2	0	2	1	0	4	2	2	2	5	3	0	1	5	3	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:66432740C>A	ENST00000273261.3	-	16	3098	c.2574G>T	c.(2572-2574)agG>agT	p.R858S	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.R835S|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	858					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CACCCTCGGTCCTGACCACGG	0.552																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2572-2574)agG>agT		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							147	151	149					3																	66432740		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66432740C>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2574G>T	3.37:g.66432740C>A	ENSP00000273261:p.Arg858Ser					SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.R478S|LRIG1_uc003dmw.3_Missense_Mutation_p.R524S|LRIG1_uc010hnz.3_Missense_Mutation_p.R574S|LRIG1_uc010hoa.3_Missense_Mutation_p.R835S	p.R858S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2588	-		Lung NSC(201;0.0101)	858					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.2574G>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058905	0.36277	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.64803	-0.12;-0.11	5.65	3.87	0.44632	.	0.105455	0.64402	D	0.000005	T	0.51907	0.1702	L	0.28556	0.865	0.36631	D	0.87627	D;B;B	0.58268	0.982;0.059;0.059	P;B;B	0.52598	0.703;0.017;0.028	T	0.56414	-0.7983	10	0.05620	T	0.96	.	8.6865	0.34240	0.0:0.7136:0.0:0.2864	.	835;858;858	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	S	858;835;761	ENSP00000273261:R858S;ENSP00000373208:R835S	ENSP00000273261:R858S	R	-	3	2	LRIG1	66515430	0.842000	0.29525	0.983000	0.44433	0.567000	0.35839	1.320000	0.33666	0.748000	0.32831	0.655000	0.94253	AGG		0.552	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		A	66432740	C	A	66432740	3	1	209	1	0	0	0	0	1	0	0	0	8944	854	30	5	723	5	LRIG1	3	66432740	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		66432740	131589690	17	14604											
STXBP5L	9515	broad.mit.edu	37	chr3	120957900	120957900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catactttgcagattgtcctCcggatttgattctagtactg	8	16	8	9	1	1	2	0	1	1	1	3	3	3	3	2	1	3	2	2	1	3	7			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:120957900C>T	ENST00000273666.6	+	13	1538	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P423S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P423S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P423S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P423S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	423					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATTGTCCTCCGGATTTGAT	0.308																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1267-1269)Ccg>Tcg		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							55	52	53					3																	120957900		1839	4094	5933	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120957900C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1267C>T	3.37:g.120957900C>T	ENSP00000273666:p.Pro423Ser					STXBP5L_uc011bji.2_Missense_Mutation_p.P423S	p.P423S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	12	1407	+			423					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1267C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	0.970	-0.700385	0.03279	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34072	2.06;2.06;1.87;1.38;1.87;2.07	4.97	4.09	0.47781	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	N	0.03253	-0.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.16541	-1.0399	10	0.08837	T	0.75	-23.8828	15.5341	0.75990	0.0:0.8616:0.1384:0.0	.	423;423	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	423	ENSP00000273666:P423S;ENSP00000420019:P423S;ENSP00000419627:P423S;ENSP00000420287:P423S;ENSP00000420666:P423S;ENSP00000420167:P423S	ENSP00000273666:P423S	P	+	1	0	STXBP5L	122440590	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.664000	0.54525	1.310000	0.45006	-0.165000	0.13383	CCG		0.308	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			T	120957900	C	T	120957900	3	4	209	1	0	0	0	0	1	0	0	0	15356	855	30	3	1313	3	STXBP5L	3	120957900	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	54525160	120957900	77064530	18	14605											
SLC25A36	55186	broad.mit.edu	37	chr3	140692641	140692641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actaaaaggattttatagggGcatgtctgcttcatatgctg	11	14	10	6	0	2	0	1	0	1	0	2	1	2	1	0	3	2	3	0	3	5	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:140692641G>A	ENST00000324194.6	+	6	704	c.536G>A	c.(535-537)gGc>gAc	p.G179D	SLC25A36_ENST00000446041.2_Missense_Mutation_p.G179D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.G153D|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	179					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTTTATAGGGGCATGTCTGCT	0.368																																						uc003etr.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(535-537)gGc>gAc		Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.							72	71	71					3																	140692641		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692641G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.536G>A	3.37:g.140692641G>A	ENSP00000320688:p.Gly179Asp					SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	p.G179D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN			5	771	+			179					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.536G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054610	0.93793	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	D;D;D	0.95821	-3.82;-3.82;-3.82	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	H	0.99642	4.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98991	1.0808	10	0.87932	D	0	-20.0918	18.015	0.89236	0.0:0.0:1.0:0.0	.	153;179;179	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	179;179;153	ENSP00000401938:G179D;ENSP00000320688:G179D;ENSP00000391521:G153D	ENSP00000320688:G179D	G	+	2	0	SLC25A36	142175331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GGC		0.368	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		A	140692641	G	A	140692641	3	1	209	1	0	0	0	0	1	0	0	0	14500	1203	42	3	558	3	SLC25A36	3	140692641	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	19734741	140692641	57329789	19	14606											
BOD1L	259282	broad.mit.edu	37	chr4	13603517	13603517	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaactatttctgagtcTctacttaaagaaccatcaca	13	13	3	12	0	4	2	2	1	2	1	5	2	4	2	2	0	3	0	2	0	6	5	rs200927512		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:13603517T>G	ENST00000040738.5	-	10	5142	c.5007A>C	c.(5005-5007)agA>agC	p.R1669S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1669						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCTGAGTCTCTACTTAAAG	0.373																																						uc003gmz.1																			0											c.(5005-5007)agA>agC		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							194	215	208					4																	13603517		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603517T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5007A>C	4.37:g.13603517T>G	ENSP00000040738:p.Arg1669Ser					BOD1L1_uc010idr.1_Missense_Mutation_p.R1006S	p.R1669S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			9	5124	-			1669					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5007A>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	6.958	0.546578	0.13312	.	.	ENSG00000038219	ENST00000040738	T	0.07327	3.2	4.8	0.751	0.18392	.	0.766086	0.11848	N	0.523601	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46938	-0.9155	10	0.15952	T	0.53	-5.0429	3.8442	0.08928	0.3765:0.1475:0.0:0.476	.	1669	Q8NFC6	BOD1L_HUMAN	S	1669	ENSP00000040738:R1669S	ENSP00000040738:R1669S	R	-	3	2	BOD1L	13212615	0.061000	0.20836	0.023000	0.16930	0.328000	0.28507	0.218000	0.17622	-0.028000	0.13850	0.454000	0.30748	AGA		0.373	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		G	13603517	T	G	13603517	3	3	209	1	0	0	0	0	1	0	0	0	1483	1548	54	5	4216	5	BOD1L	4	13603517	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08		13603517	177550759	20	14607											
PAQR3	152559	broad.mit.edu	37	chr4	79856373	79856373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatatattcccagggtgaAgaagagaaagaaacccagca	17	6	10	8	0	1	4	1	1	0	3	2	5	2	4	2	1	2	1	2	1	6	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:79856373A>G	ENST00000512733.1	-	2	463	c.250T>C	c.(250-252)Ttc>Ctc	p.F84L	PAQR3_ENST00000380645.4_Missense_Mutation_p.F84L|PAQR3_ENST00000295462.3_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	84					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCCAGGGTGAAGAAGAGAAAG	0.368																																						uc003hlp.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(250-252)Ttc>Ctc		Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.							98	99	99					4																	79856373		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79856373A>G	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.250T>C	4.37:g.79856373A>G	ENSP00000421981:p.Phe84Leu					PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron	p.F84L	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN			1	454	-			84					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.250T>C	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881543	0.51908	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.25414	1.8;1.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.16233	0.39	0.80722	D	1	B	0.25486	0.127	B	0.35039	0.194	T	0.03249	-1.1056	10	0.05833	T	0.94	-3.7446	14.9336	0.70935	1.0:0.0:0.0:0.0	.	84	Q6TCH7	PAQR3_HUMAN	L	84	ENSP00000421981:F84L;ENSP00000370019:F84L	ENSP00000344203:F84L	F	-	1	0	PAQR3	80075397	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.322000	0.79097	2.020000	0.59435	0.460000	0.39030	TTC		0.368	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		G	79856373	A	G	79856373	3	3	209	1	0	0	0	0	1	0	0	0	11436	72	3	4	705	4	PAQR3	4	79856373	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	66252856	79856373	111297903	21	14608											
APC	324	broad.mit.edu	37	chr5	112175591	112175591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggacaaaccatgccaccaAgcagaagtaaaacacctcca	17	4	6	14	0	0	1	0	0	0	1	1	2	1	2	5	1	4	2	5	1	5	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:112175591A>G	ENST00000457016.1	+	16	4680	c.4300A>G	c.(4300-4302)Agc>Ggc	p.S1434G	APC_ENST00000508376.2_Missense_Mutation_p.S1434G|APC_ENST00000257430.4_Missense_Mutation_p.S1434G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1434	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATGCCACCAAGCAGAAGTAA	0.483		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc003kpz.4		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		4	Deletion - Frameshift(3)|Unknown(1)	p.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)	large_intestine(2)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4300-4302)Agc>Ggc		Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.							113	101	105					5																	112175591		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175591A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4300A>G	5.37:g.112175591A>G	ENSP00000413133:p.Ser1434Gly	TSP Lung(16;0.13)				APC_uc011cvt.2_Missense_Mutation_p.S1416G|APC_uc003kpy.4_Missense_Mutation_p.S1434G|APC_uc010jbz.3_Missense_Mutation_p.S1151G|APC_uc010jca.3_Missense_Mutation_p.S734G	p.S1434G	NM_001127510	NP_001120982	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4493	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1434			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4300A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680567	0.68042	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.07	6.07	0.98685	.	0.073355	0.85682	D	0.000000	D	0.94295	0.8167	L	0.57536	1.79	0.47245	D	0.999365	P;P	0.50443	0.935;0.935	P;P	0.45753	0.492;0.492	D	0.93409	0.6767	9	.	.	.	-12.6444	12.8223	0.57700	0.8778:0.0:0.0:0.1222	.	1436;1434	Q4LE70;P25054	.;APC_HUMAN	G	1434	ENSP00000413133:S1434G;ENSP00000257430:S1434G;ENSP00000427089:S1434G	.	S	+	1	0	APC	112203490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	AGC		0.483	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112175591	A	G	112175591	3	3	209	1	0	0	0	0	1	0	0	0	763	72	3	4	4358	4	APC	5	112175591	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		112175591	68739669	22	14609											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773167	140773167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaggcacgcggctgcttActgtaacagccagcgacccg	8	5	11	17	4	0	0	0	0	0	0	0	1	0	0	4	2	5	4	4	2	2	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:140773167A>G	ENST00000398604.2	+	1	787	c.787A>G	c.(787-789)Act>Gct	p.T263A	PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCTGCTTACTGTAACAGC	0.473																																						uc003lkd.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(787-789)Act>Gct		Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.							72	77	75					5																	140773167		1895	4123	6018	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140773167A>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.787A>G	5.37:g.140773167A>G	ENSP00000381605:p.Thr263Ala					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.T263A|PCDHGC5_uc003lkc.2_Intron	p.T263A	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1685	+			263			Cadherin 3.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.787A>G	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	7.419	0.636333	0.14386	.	.	ENSG00000253767	ENST00000398604	T	0.54071	0.59	5.41	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.000000	0.31936	U	0.006833	T	0.45478	0.1344	L	0.60455	1.87	0.09310	N	1	B;B	0.19331	0.011;0.035	B;B	0.21151	0.033;0.029	T	0.38090	-0.9677	10	0.45353	T	0.12	.	7.2708	0.26256	0.7071:0.1494:0.0:0.1435	.	263;263	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	A	263	ENSP00000381605:T263A	ENSP00000381605:T263A	T	+	1	0	PCDHGA8	140753351	0.000000	0.05858	0.999000	0.59377	0.776000	0.43924	1.397000	0.34543	2.064000	0.61679	0.533000	0.62120	ACT		0.473	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		G	140773167	A	G	140773167	3	3	209	1	0	0	0	0	1	0	0	0	11560	391	14	4	789	4	PCDHGA8	5	140773167	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	28597576	140773167	40142093	23	14610											
SPRY4	81848	broad.mit.edu	37	chr5	141694230	141694230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcttgtccagctcgggtggGaccgccgggcccttgaggtc	3	9	16	13	3	0	1	0	1	0	0	3	2	1	2	4	4	2	2	4	4	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:141694230G>A	ENST00000434127.2	-	2	687	c.444C>T	c.(442-444)gtC>gtT	p.V148V	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.V171V	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	148					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGGGTGGGACCGCCGGGC	0.652									Testicular Cancer, Familial Clustering of																													uc010jgi.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(511-513)gtC>gtT		Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.							47	52	50					5																	141694230		2203	4300	6503	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694230G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.444C>T	5.37:g.141694230G>A						SPRY4_uc003lml.2_Silent_p.V148V|SPRY4_uc021yet.1_Silent_p.V148V	p.V171V	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	754	-		all_hematologic(541;0.118)	148			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.513C>T	CCDS47296.1																																																																																				0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			A	141694230	G	A	141694230	2	1	209	1	0	0	0	0	0	0	0	1	15107	1161	41	3		3	SPRY4	5	141694230	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	921063	141694230	39221030	24	14611											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974898	32974898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatgatgatgaggacGgtgcccacgaggaagcccac	10	5	14	12	2	0	3	0	3	0	0	0	6	0	5	3	3	3	0	3	3	1	0	rs570962980		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:32974898G>A	ENST00000229829.5	-	4	783	c.708C>T	c.(706-708)acC>acT	p.T236T	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	236					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGATGAGGACGGTGCCCACGA	0.627													G|||	1	0.000199681	0	0	5008	,	,		16533	0.001		0	False		,,,				2504	0					uc003ocr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(706-708)acC>acT		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							60	64	63					6																	32974898		2203	4300	6503	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32974898G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.708C>T	6.37:g.32974898G>A						HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	p.T236T	NM_002119	NP_002110	P06340	DOA_HUMAN			3	784	-			236					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.708C>T	CCDS4763.1																																																																																				0.627	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		A	32974898	G	A	32974898	2	1	209	1	0	0	0	0	0	0	0	1	7200	1103	39	2		2	HLA-DOA	6	32974898	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08		32974898	138140169	25	14612											
C6orf154	221424	broad.mit.edu	37	chr6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-																															cgccagcccctcctgccactTcctcctcctcctctccctca																										TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						uc003ovk.1																			0											c.(781-786)gaggaa>gaa		Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.				11,4155		1,9,2073						2.1	1			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del					LRRC73_uc003ovj.1_In_Frame_Del_p.70_71EE>E	p.261_262EE>E	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN			4	1684_1686	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		-	43475291	TCC	-	43475289	7	5	209	1	0	1	0	1	0	0	0	0	2339	1783	62	0	173	0	C6orf154	6	43475289	In_Frame_Del	DEL	TCC	TCGA-28-5207-01A-01D-1486-08	10500391	43475289	127639778	26	14613											
PLA2G7	7941	broad.mit.edu	37	chr6	46678392	46678392	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcttttgctctttgccGtacctaatataattattaga	11	18	4	8	1	2	1	0	0	2	1	2	1	2	1	2	0	3	2	2	0	6	10	rs200057649	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:46678392G>T	ENST00000274793.7	-	8	863	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	PLA2G7_ENST00000537365.1_Silent_p.R223R|PLA2G7_ENST00000541026.1_Silent_p.R96R|PLA2G7_ENST00000538237.1_Silent_p.R178R	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	223					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GCTCTTTGCCGTACCTAATAT	0.323																																						uc010jzf.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(667-669)Cgg>Agg		Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.							79	79	79					6																	46678392		2203	4299	6502	SO:0001819	synonymous_variant	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678392G>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.667C>A	6.37:g.46678392G>T						PLA2G7_uc021zae.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	p.R223R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		7	936	-			223					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Silent	SNP	ENST00000274793.7	37	c.667C>A	CCDS4917.1																																																																																				0.323	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			T	46678392	G	T	46678392	2	4	209	1	0	0	0	0	0	0	0	1	12009	1144	40	5		5	PLA2G7	6	46678392	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	3203103	46678392	124436675	27	14614											
QKI	9444	broad.mit.edu	37	chr6	163984582	163984585	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															cctaccataatgcctttgatCagacaaatacagaccgctgt																										TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:163984582_163984585delCAGA	ENST00000361752.3	+	6	1316_1319	c.765_768delCAGA	c.(763-768)atcagafs	p.IR255fs	QKI_ENST00000392127.2_Frame_Shift_Del_p.IR255fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.IR255fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.IR255fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.IR247fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.IR247fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	255					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCTTTGATCAGACAAATACAGA	0.554																																						uc003qui.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(763-768)atcagafs		Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984582_163984585delCAGA	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.765_768delCAGA	6.37:g.163984582_163984585delCAGA	ENSP00000355094:p.Ile255fs					QKI_uc003quj.3_Frame_Shift_Del_p.I247fs|QKI_uc003quh.3_Frame_Shift_Del_p.I247fs|QKI_uc003que.3_Frame_Shift_Del_p.I255fs|QKI_uc003quf.3_Frame_Shift_Del_p.I255fs|QKI_uc003qug.3_Frame_Shift_Del_p.I255fs	p.I255fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	5	1316_1319	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	255					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	ENST00000361752.3	37	c.765_768delCAGA	CCDS5285.1																																																																																				0.554	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		-	163984585	CAGA	-	163984582	7	5	209	1	0	1	0	1	0	0	0	0	12873	816	29	0	787	0	QKI	6	163984582	Frame_Shift_Del	DEL	CAGA	TCGA-28-5207-01A-01D-1486-08	117306190	163984582	7130485	28	14615											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179	143	155					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221821	G	A	55221821	3	1	209	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		55221821	103916842	29	14616											
HYAL4	23553	broad.mit.edu	37	chr7	123508443	123508443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgtctaaaacctgctcGacttccaatttatcaaagga	12	13	5	11	1	3	0	1	0	2	0	5	2	4	1	2	1	2	1	2	1	5	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:123508443G>A	ENST00000223026.4	+	3	754	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	HYAL4_ENST00000476325.1_Missense_Mutation_p.R39Q	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	39					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCTGCTCGACTTCCAATT	0.323																																						uc003vlc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(115-117)cGa>cAa		Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.							86	94	91					7																	123508443		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508443G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.116G>A	7.37:g.123508443G>A	ENSP00000223026:p.Arg39Gln					HYAL4_uc011knz.2_Missense_Mutation_p.R39Q	p.R39Q	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			2	754	+			39					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.116G>A	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058921	0.19987	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.17370	2.28;2.28	5.2	-0.302	0.12796	.	0.270258	0.35320	N	0.003291	T	0.10423	0.0255	L	0.31664	0.95	0.09310	N	0.999996	B;B	0.15930	0.001;0.015	B;B	0.15052	0.003;0.012	T	0.30679	-0.9970	10	0.25106	T	0.35	-22.68	9.3561	0.38168	0.5119:0.0:0.4881:0.0	.	39;39	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	Q	39	ENSP00000223026:R39Q;ENSP00000417186:R39Q	ENSP00000223026:R39Q	R	+	2	0	HYAL4	123295679	0.002000	0.14202	0.645000	0.29479	0.948000	0.59901	0.474000	0.22148	0.046000	0.15833	0.655000	0.94253	CGA		0.323	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		A	123508443	G	A	123508443	3	1	209	1	0	0	0	0	1	0	0	0	7466	1058	37	2	118	2	HYAL4	7	123508443	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	68286622	123508443	35630220	30	14617											
PLXNA4	91584	broad.mit.edu	37	chr7	131859666	131859666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcatggatgtccgtctgCagctcggcaaaggctggcac	8	8	13	12	2	2	0	1	0	1	0	4	1	3	1	1	4	3	6	1	4	1	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:131859666C>T	ENST00000359827.3	-	21	4850	c.3888G>A	c.(3886-3888)ctG>ctA	p.L1296L	PLXNA4_ENST00000321063.4_Silent_p.L1296L			Q9HCM2	PLXA4_HUMAN	plexin A4	1296					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCCGTCTGCAGCTCGGCAA	0.562																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3886-3888)ctG>ctA		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							73	81	79					7																	131859666		2173	4290	6463	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131859666C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3888G>A	7.37:g.131859666C>T							p.L1296L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	4117	-			1296					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3888G>A	CCDS43646.1																																																																																				0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131859666	C	T	131859666	2	4	209	1	0	0	0	0	0	0	0	1	12122	697	25	3		3	PLXNA4	7	131859666	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	8351223	131859666	27278997	31	14618											
CHRM2	1129	broad.mit.edu	37	chr7	136700324	136700324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaagtctggtacaaGgaaggatagtgaagccaaac	14	9	10	8	0	2	1	0	1	2	0	3	3	2	3	2	3	3	1	2	3	7	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:136700324G>C	ENST00000445907.2	+	3	1240	c.712G>C	c.(712-714)Gga>Cga	p.G238R	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G238R|CHRM2_ENST00000320658.5_Missense_Mutation_p.G238R|CHRM2_ENST00000453373.1_Missense_Mutation_p.G238R|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G238R|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G238R|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	238					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCTGGTACAAGGAAGGATAGT	0.507																																						uc003vtf.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(712-714)Gga>Cga		Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						50	48	49					7																	136700324		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700324G>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.712G>C	7.37:g.136700324G>C	ENSP00000399745:p.Gly238Arg					CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G238R	p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN			3	1335	+			238					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.712G>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958492	0.18507	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.480364	0.24178	N	0.040832	T	0.52041	0.1710	N	0.10874	0.06	0.46564	D	0.999108	P	0.37688	0.605	P	0.48334	0.574	T	0.51872	-0.8650	10	0.28530	T	0.3	-7.5336	19.1729	0.93588	0.0:0.0:1.0:0.0	.	238	P08172	ACM2_HUMAN	R	238	ENSP00000399745:G238R;ENSP00000415386:G238R;ENSP00000319984:G238R;ENSP00000380733:G238R;ENSP00000384937:G238R;ENSP00000384401:G238R	ENSP00000319984:G238R	G	+	1	0	CHRM2	136350864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.737000	0.55060	2.541000	0.85698	0.655000	0.94253	GGA		0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			C	136700324	G	C	136700324	3	2	209	1	0	0	0	0	1	0	0	0	3377	1001	35	5	714	5	CHRM2	7	136700324	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	4840658	136700324	22438339	32	14619											
TNKS	8658	broad.mit.edu	37	chr8	9620738	9620738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaagataaagaatatcAgtcagtggaagaagaggtaa	19	7	11	4	0	2	5	2	0	0	5	3	6	3	6	1	2	0	1	1	2	8	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:9620738A>G	ENST00000310430.6	+	22	3382	c.3356A>G	c.(3355-3357)cAg>cGg	p.Q1119R	TNKS_ENST00000518281.1_Missense_Mutation_p.Q882R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1119	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAGAATATCAGTCAGTGGAA	0.358																																						uc003wss.3																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3355-3357)cAg>cGg		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.							92	91	92					8																	9620738		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9620738A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3356A>G	8.37:g.9620738A>G	ENSP00000311579:p.Gln1119Arg					TNKS_uc011kww.2_Missense_Mutation_p.Q882R	p.Q1119R	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	21	3361	+			1119			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3356A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549804	0.27652	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	N	0.25380	0.74	0.80722	D	1	P	0.35456	0.502	P	0.47118	0.538	T	0.05131	-1.0904	10	0.36615	T	0.2	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1119	O95271	TNKS1_HUMAN	R	1119;882	ENSP00000311579:Q1119R;ENSP00000429890:Q882R	ENSP00000311579:Q1119R	Q	+	2	0	TNKS	9658148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	CAG		0.358	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		G	9620738	A	G	9620738	3	3	209	1	0	0	0	0	1	0	0	0	16316	188	7	4	3442	4	TNKS	8	9620738	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		9620738	136743284	33	14620											
GSDMC	56169	broad.mit.edu	37	chr8	130762682	130762682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagcccctcaccatgtTcatcaggtcctgtagagccc	7	10	10	14	0	3	1	3	0	0	1	4	2	4	2	5	2	2	2	5	2	1	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:130762682T>C	ENST00000276708.4	-	11	1959	c.1078A>G	c.(1078-1080)Aac>Gac	p.N360D		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	360						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTCACCATGTTCATCAGGTCC	0.468																																						uc003ysr.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Aac>Gac		Homo sapiens gasdermin C (GSDMC), mRNA.							108	95	99					8																	130762682		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130762682T>C	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1078A>G	8.37:g.130762682T>C	ENSP00000276708:p.Asn360Asp						p.N360D	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			10	1960	-			360					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.1078A>G	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	0.194	-1.050941	0.01981	.	.	ENSG00000147697	ENST00000276708	T	0.20463	2.07	5.14	2.33	0.28932	.	0.549831	0.17553	N	0.170087	T	0.06234	0.0161	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	10	0.11794	T	0.64	.	4.0903	0.09967	0.1848:0.6197:0.0:0.1955	.	360	Q9BYG8	GSDMC_HUMAN	D	360	ENSP00000276708:N360D	ENSP00000276708:N360D	N	-	1	0	GSDMC	130831864	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.039000	0.13884	0.333000	0.23563	-1.104000	0.02111	AAC		0.468	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			C	130762682	T	C	130762682	3	2	209	1	0	0	0	0	1	0	0	0	6818	1783	62	4	464	4	GSDMC	8	130762682	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	121141944	130762682	15601340	34	14621											
PYCRL	65263	broad.mit.edu	37	chr8	144690265	144690265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctgtctgttggtgcActggccagtatgtgctgagc	5	13	14	9	0	1	1	0	1	1	0	2	1	2	1	2	3	3	5	2	3	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:144690265A>G	ENST00000220966.6	-	2	188	c.159T>C	c.(157-159)agT>agC	p.S53S	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	41					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CTGTTGGTGCACTGGCCAGTA	0.532																																						uc003yyy.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(157-159)agT>agC		Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.							135	126	129					8																	144690265		2203	4300	6503	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144690265A>G	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.159T>C	8.37:g.144690265A>G						PYCRL_uc011lkm.2_Silent_p.S53S|PYCRL_uc011lkn.2_Non-coding_Transcript	p.S53S	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	189	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		41					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.159T>C	CCDS6407.2																																																																																				0.532	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		G	144690265	A	G	144690265	2	3	209	1	0	0	0	0	0	0	0	1	12857	156	6	4		4	PYCRL	8	144690265	Silent	SNP	A	TCGA-28-5207-01A-01D-1486-08	13927583	144690265	1673757	35	14622											
MPDZ	8777	broad.mit.edu	37	chr9	13107002	13107002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagtgccttttgtccGtttaaggatggcaacagctt	9	13	11	8	1	0	1	0	1	0	0	1	2	1	2	2	2	3	3	2	2	2	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:13107002G>A	ENST00000319217.7	-	47	6422	c.6175C>T	c.(6175-6177)Cgg>Tgg	p.R2059W	MPDZ_ENST00000546205.1_Missense_Mutation_p.R2073W|MPDZ_ENST00000541093.1_Missense_Mutation_p.R293W|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1997W|MPDZ_ENST00000381022.2_Missense_Mutation_p.R2030W|MPDZ_ENST00000538841.1_Missense_Mutation_p.R918W|MPDZ_ENST00000541718.1_Missense_Mutation_p.R2030W|MPDZ_ENST00000447879.1_Missense_Mutation_p.R2026W|MPDZ_ENST00000381015.4_Missense_Mutation_p.R2059W	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2059	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTGTCCGTTTAAGGATG	0.483																																						uc010mhy.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(6088-6090)Cgg>Tgg		Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.							231	232	232					9																	13107002		2008	4175	6183	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13107002G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6175C>T	9.37:g.13107002G>A	ENSP00000320006:p.Arg2059Trp					MPDZ_uc003zkx.4_Missense_Mutation_p.R254W|MPDZ_uc003zky.4_Missense_Mutation_p.R593W|MPDZ_uc010mib.3_Missense_Mutation_p.R764W|MPDZ_uc010mhx.3_Missense_Mutation_p.R881W|MPDZ_uc011lmm.2_Missense_Mutation_p.R918W|MPDZ_uc003zkz.4_Missense_Mutation_p.R752W|MPDZ_uc010mhz.3_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.2_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.4_Missense_Mutation_p.R2030W	p.R2030W	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	44	6145	-			2059			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.6088C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116869	0.77323	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.52	3.49	0.39957	PDZ/DHR/GLGF (4);	0.000000	0.38058	N	0.001825	T	0.50205	0.1602	M	0.63843	1.955	0.48762	D	0.999708	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.99;0.993;0.997;0.996;0.997;0.993;0.993	T	0.53143	-0.8480	10	0.72032	D	0.01	.	11.8697	0.52513	0.0:0.0:0.4334:0.5666	.	1997;918;764;2026;1939;2030;2059;752	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	W	2059;2030;2030;600;293;995;918;1997;2026;2059;1939;2073	ENSP00000320006:R2059W;ENSP00000439807:R2030W;ENSP00000370410:R2030W;ENSP00000415964:R600W;ENSP00000445259:R293W;ENSP00000444230:R995W;ENSP00000444717:R918W;ENSP00000444151:R1997W;ENSP00000415208:R2026W;ENSP00000370403:R2059W;ENSP00000446358:R2073W	ENSP00000320006:R2059W	R	-	1	2	MPDZ	13097002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.939000	0.40213	1.314000	0.45095	0.563000	0.77884	CGG		0.483	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13107002	G	A	13107002	3	1	209	1	0	0	0	0	1	0	0	0	9722	1144	40	1	41	1	MPDZ	9	13107002	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		13107002	128106429	36	14623											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967843	88967843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatctttgtggctgtcaTtcatccaagcgggttgactg	6	15	11	9	1	4	2	2	2	2	0	5	2	5	2	1	2	1	2	1	2	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:88967843T>C	ENST00000375963.3	-	2	444	c.272A>G	c.(271-273)aAt>aGt	p.N91S	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.N91S|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.N91S|ZCCHC6_ENST00000375947.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	91					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGGCTGTCATTCATCCAAGC	0.438																																						uc004aou.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(271-273)aAt>aGt		Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.							183	175	178					9																	88967843		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967843T>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.272A>G	9.37:g.88967843T>C	ENSP00000365130:p.Asn91Ser					ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aot.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aow.3_Missense_Mutation_p.N91S|ZCCHC6_uc010mqf.2_Missense_Mutation_p.N91S	p.N91S	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN			1	410	-			91					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.272A>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687298	0.14973	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.46451	0.88;0.87;0.88	4.88	3.7	0.42460	.	0.073920	0.56097	D	0.000032	T	0.19366	0.0465	N	0.08118	0	0.28044	N	0.933648	B;B;B;B;B	0.26363	0.002;0.006;0.002;0.111;0.147	B;B;B;B;B	0.25614	0.012;0.012;0.008;0.047;0.062	T	0.05194	-1.0900	10	0.36615	T	0.2	-12.8917	5.1011	0.14760	0.0:0.2086:0.1523:0.6391	.	91;91;91;91;91	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	S	91	ENSP00000365127:N91S;ENSP00000365128:N91S;ENSP00000365130:N91S	ENSP00000365127:N91S	N	-	2	0	ZCCHC6	88157663	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.248000	0.32827	2.041000	0.60428	0.482000	0.46254	AAT		0.438	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		C	88967843	T	C	88967843	3	2	209	1	0	0	0	0	1	0	0	0	17589	1493	52	4	4319	4	ZCCHC6	9	88967843	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	75860841	88967843	52245588	37	14624											
NEBL	10529	broad.mit.edu	37	chr10	21124444	21124444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgcaccctactaacctCactcgctatctctgcagcct	9	10	4	18	2	3	0	2	0	1	0	5	0	3	0	3	0	4	3	3	0	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:21124444C>A	ENST00000377122.4	-	14	1843	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	483					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTAACCTCACTCGCTATC	0.423																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1447-1449)Gag>Tag		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							224	202	209					10																	21124444		2203	4300	6503	SO:0001587	stop_gained	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21124444C>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1447G>T	10.37:g.21124444C>A	ENSP00000366326:p.Glu483*					NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.E483*	NM_006393	NP_006384	O76041	NEBL_HUMAN			13	1844	-			483					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	c.1447G>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	38	6.933156	0.97944	.	.	ENSG00000078114	ENST00000377122	.	.	.	5.08	3.16	0.36331	.	0.672334	0.14263	N	0.330668	.	.	.	.	.	.	0.27871	N	0.940052	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	8.4412	0.32816	0.0:0.3727:0.5296:0.0977	.	.	.	.	X	483	.	ENSP00000366326:E483X	E	-	1	0	NEBL	21164450	0.959000	0.32827	0.379000	0.26080	0.113000	0.19764	1.109000	0.31135	1.136000	0.42199	0.505000	0.49811	GAG		0.423	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		A	21124444	C	A	21124444	4	1	209	1	0	0	0	0	0	1	0	0	10303	835	29	5	1657	5	NEBL	10	21124444	Nonsense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		21124444	114410303	38	14625											
COL17A1	1308	broad.mit.edu	37	chr10	105798222	105798222	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgctgatagagccCggaggcccagggggcccagg	8	3	17	13	1	0	3	0	1	0	2	0	4	0	4	4	5	3	2	4	5	1	1	rs368653483		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:105798222C>A	ENST00000353479.5	-	45	3302	c.3012G>T	c.(3010-3012)ccG>ccT	p.P1004P	COL17A1_ENST00000369733.3_Silent_p.P959P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1004	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAGAGCCCGGAGGCCCAG	0.607																																						uc001kxr.3																			0		p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(3010-3012)ccG>ccT		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							94	104	101					10																	105798222		2200	4296	6496	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798222C>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3012G>T	10.37:g.105798222C>A							p.P1004P	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	44	3181	-		Colorectal(252;0.103)|Breast(234;0.122)	1004			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.3012G>T	CCDS7554.1																																																																																				0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105798222	C	A	105798222	2	1	209	1	0	0	0	0	0	0	0	1	3674	639	23	5		5	COL17A1	10	105798222	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	84673778	105798222	29736525	39	14626											
CTSF	8722	broad.mit.edu	37	chr11	66334786	66334786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattgaagccatcttcacagGcaagtcctggataggcagac	12	8	11	10	0	2	2	1	1	1	1	3	4	3	3	2	3	1	2	2	3	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:66334786G>A	ENST00000310325.5	-	4	647	c.538C>T	c.(538-540)Cct>Tct	p.P180S	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	180					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATCTTCACAGGCAAGTCCTGG	0.522																																						uc001oip.3																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(538-540)Cct>Tct		Homo sapiens cathepsin F (CTSF), mRNA.							116	110	112					11																	66334786		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66334786G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.538C>T	11.37:g.66334786G>A	ENSP00000310832:p.Pro180Ser						p.P180S	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	628	-			180					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.538C>T	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.009|0.009	-1.807043|-1.807043	0.00606|0.00606	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325;ENST00000526010	.|T;T	.|0.38887	.|2.06;1.11	5.14|5.14	-2.04|-2.04	0.07343|0.07343	.|.	.|1.291910	.|0.05294	.|N	.|0.521626	T|T	0.12475|0.12475	0.0303|0.0303	N|N	0.01168|0.01168	-0.975|-0.975	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.16305|0.16305	-1.0407|-1.0407	5|10	.|0.07813	.|T	.|0.8	.|.	3.2462|3.2462	0.06798|0.06798	0.3474:0.4309:0.0827:0.139|0.3474:0.4309:0.0827:0.139	.|.	.|180	.|Q9UBX1	.|CATF_HUMAN	V|S	28|180;88	.|ENSP00000310832:P180S;ENSP00000435822:P88S	.|ENSP00000310832:P180S	A|P	-|-	2|1	0|0	CTSF|CTSF	66091362|66091362	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.447000|0.447000	0.32167|0.32167	-0.101000|-0.101000	0.10973|0.10973	-0.562000|-0.562000	0.06086|0.06086	-1.373000|-1.373000	0.01185|0.01185	GCC|CCT		0.522	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		A	66334786	G	A	66334786	3	1	209	1	0	0	0	0	1	0	0	0	4034	1203	42	3	956	3	CTSF	11	66334786	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		66334786	68671730	40	14627											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904384	74904384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcccaagttcctggaGcgccagttttccatcacagc	7	11	8	15	1	1	0	1	0	0	0	4	1	4	1	5	1	3	2	5	1	1	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:74904384G>A	ENST00000289575.5	+	9	1592	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLCO2B1_ENST00000428359.2_Silent_p.E377E|SLCO2B1_ENST00000532236.1_Silent_p.E283E|SLCO2B1_ENST00000341411.4_Silent_p.E172E|SLCO2B1_ENST00000525650.1_Silent_p.E255E|SLCO2B1_ENST00000454962.2_Silent_p.E172E|SLCO2B1_ENST00000531756.1_Silent_p.E144E	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	399					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AGTTCCTGGAGCGCCAGTTTT	0.612																																						uc001owb.3																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1195-1197)gaG>gaA		Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	Ergoloid mesylate(DB01049)						126	104	111					11																	74904384		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904384G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1197G>A	11.37:g.74904384G>A						SLCO2B1_uc010rrq.2_Silent_p.E144E|SLCO2B1_uc010rrr.2_Silent_p.E255E|SLCO2B1_uc010rrs.2_Silent_p.E283E|SLCO2B1_uc001owc.3_Silent_p.E172E|SLCO2B1_uc001owd.3_Silent_p.E377E	p.E399E	NM_007256	NP_001138683	O94956	SO2B1_HUMAN			8	1592	+			399					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.1197G>A	CCDS8235.1																																																																																				0.612	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		A	74904384	G	A	74904384	2	1	209	1	0	0	0	0	0	0	0	1	14727	962	34	3		3	SLCO2B1	11	74904384	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	8569598	74904384	60102132	41	14628											
C11orf63	79864	broad.mit.edu	37	chr11	122756720	122756720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcctcacgcaagagattAtgtgccattctgagtttgat	12	12	9	8	1	2	3	1	2	1	1	2	4	2	3	2	0	2	2	2	0	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:122756720A>G	ENST00000531316.1	+	1	255	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	C11orf63_ENST00000307257.6_Missense_Mutation_p.M55V|C11orf63_ENST00000227349.2_Missense_Mutation_p.M55V			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	55					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAGAGATTATGTGCCATTC	0.488																																						uc001pym.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(163-165)Atg>Gtg		Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.							96	98	97					11																	122756720		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122756720A>G	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.163A>G	11.37:g.122756720A>G	ENSP00000431669:p.Met55Val					C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	p.M55V	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	1	460	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	55					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.163A>G	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	2.148	-0.395105	0.04899	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.41400	1.0;1.0	5.76	2.17	0.27698	.	0.708846	0.13171	N	0.408277	T	0.25531	0.0621	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.08055	0.001;0.003	T	0.18871	-1.0323	10	0.52906	T	0.07	-3.3269	4.78	0.13197	0.4866:0.2861:0.2274:0.0	.	55;55	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	V	55	ENSP00000227349:M55V;ENSP00000431669:M55V	ENSP00000227349:M55V	M	+	1	0	C11orf63	122261930	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.150000	0.10189	0.109000	0.17891	0.533000	0.62120	ATG		0.488	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		G	122756720	A	G	122756720	3	3	209	1	0	0	0	0	1	0	0	0	1654	449	16	4	165	4	C11orf63	11	122756720	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	47852336	122756720	12249796	42	14629											
ATP5B	506	broad.mit.edu	37	chr12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctcagcaatggcacgcGacagtacagtggtagcatcc	11	6	11	13	2	1	0	1	0	0	0	2	1	2	0	2	2	4	6	2	2	3	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512																																						uc001slr.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1156-1158)tCg>tTg		Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.							139	114	122					12																	57033894		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033894G>A	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1157C>T	12.37:g.57033894G>A	ENSP00000262030:p.Ser386Leu						p.S386L	NM_001686	NP_001677	P06576	ATPB_HUMAN			7	1262	-			386					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1157C>T	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367637	0.82463	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551570	D;D;D	0.81499	-1.5;-1.5;-1.5	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96586	0.9434	10	0.87932	D	0	-18.6154	18.7629	0.91860	0.0:0.0:1.0:0.0	.	386	P06576	ATPB_HUMAN	L	386;375;89;130	ENSP00000262030:S386L;ENSP00000450297:S375L;ENSP00000448428:S130L	ENSP00000262030:S386L	S	-	2	0	ATP5B	55320161	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.653000	0.98506	2.723000	0.93209	0.655000	0.94253	TCG		0.512	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		A	57033894	G	A	57033894	3	1	209	1	0	0	0	0	1	0	0	0	1148	1059	37	2	444	2	ATP5B	12	57033894	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		57033894	76818001	43	14630											
MARS	4141	broad.mit.edu	37	chr12	57883052	57883053	+	Frame_Shift_Ins	INS	-	-	T																															gctctctctctgggcagataINStttttttttgttatctggct																								rs11540808		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57883052_57883053insT	ENST00000262027.5	+	3	337_338	c.203_204insT	c.(202-207)tattttfs	p.YF68fs	ARHGAP9_ENST00000393797.2_5'Flank|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGCAGATATTTTTTTTTGT	0.485																																						uc001sog.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(202-204)tatfs		Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883052_57883053insT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.212dupT	12.37:g.57883061_57883061dupT	ENSP00000262027:p.Tyr68fs					ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	p.Y68fs	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		2	357_358	+			68					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Ins	INS	ENST00000262027.5	37	c.203_204insT	CCDS8942.1																																																																																				0.485	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		T	57883053	-	T	57883052	7	5	209	1	0	1	1	0	0	0	0	0	9316	449	16	0	213	0	MARS	12	57883052	Frame_Shift_Ins	INS	-	TCGA-28-5207-01A-01D-1486-08	849158	57883052	75968843	44	14631											
FLT1	2321	broad.mit.edu	37	chr13	28877307	28877307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcttcgtgtcaaactctaGatgggtggggtggagtacag	9	10	16	6	1	2	1	1	0	1	1	3	2	2	2	0	5	2	2	0	5	3	3	rs201326398		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:28877307G>C	ENST00000282397.4	-	30	4265	c.4014C>G	c.(4012-4014)atC>atG	p.I1338M	FLT1_ENST00000540678.1_Missense_Mutation_p.I556M|FLT1_ENST00000543394.1_Missense_Mutation_p.I361M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1338					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAACTCTAGATGGGTGGGG	0.488																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(4012-4014)atC>atG		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						54	56	56					13																	28877307		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877307G>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.4014C>G	13.37:g.28877307G>C	ENSP00000282397:p.Ile1338Met					FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	p.I1338M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	4299	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1338					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.4014C>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	4.570	0.105921	0.08780	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.79141	-0.99;-1.24;-1.24	5.06	3.22	0.36961	.	1.035460	0.07699	N	0.939986	T	0.57666	0.2069	N	0.08118	0	0.24793	N	0.992748	B	0.29805	0.257	B	0.25614	0.062	T	0.52305	-0.8593	10	0.62326	D	0.03	.	5.4428	0.16519	0.192:0.1657:0.6423:0.0	.	1338	P17948	VGFR1_HUMAN	M	1338;361;556	ENSP00000282397:I1338M;ENSP00000437841:I361M;ENSP00000443311:I556M	ENSP00000282397:I1338M	I	-	3	3	FLT1	27775307	0.981000	0.34729	0.035000	0.18076	0.015000	0.08874	0.210000	0.17455	1.091000	0.41335	0.557000	0.71058	ATC		0.488	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			C	28877307	G	C	28877307	3	2	209	1	0	0	0	0	1	0	0	0	5941	932	33	5	6	5	FLT1	13	28877307	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		28877307	86292571	45	14632											
NALCN	259232	broad.mit.edu	37	chr13	101742235	101742235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataacatctctcacttccaCccagcctttcaaggagagaa	14	9	5	13	0	3	1	2	0	1	1	5	3	4	2	3	1	2	0	3	1	4	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:101742235C>T	ENST00000251127.6	-	29	3433	c.3352G>A	c.(3352-3354)Gtg>Atg	p.V1118M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1118					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTTCCACCCAGCCTTTC	0.453																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3352-3354)Gtg>Atg		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							249	258	255					13																	101742235		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101742235C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3352G>A	13.37:g.101742235C>T	ENSP00000251127:p.Val1118Met						p.V1118M	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			28	3541	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1118					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3352G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662683	0.88251	.	.	ENSG00000102452	ENST00000251127	D	0.97404	-4.37	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	N	0.13140	0.3	0.80722	D	1	D	0.58620	0.983	P	0.61003	0.882	D	0.94266	0.7506	10	0.17369	T	0.5	.	19.7395	0.96220	0.0:1.0:0.0:0.0	.	1118	Q8IZF0	NALCN_HUMAN	M	1118	ENSP00000251127:V1118M	ENSP00000251127:V1118M	V	-	1	0	NALCN	100540236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.669000	0.90835	0.655000	0.94253	GTG		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101742235	C	T	101742235	3	4	209	1	0	0	0	0	1	0	0	0	10148	507	18	3	1928	3	NALCN	13	101742235	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	72864928	101742235	13427643	46	14633											
HERC1	8925	broad.mit.edu	37	chr15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcagcgtggcatggCgcccagtttgcttgtgaaca	7	9	12	13	2	0	1	0	1	0	0	1	1	1	1	2	2	4	4	2	2	1	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr15:63970125C>T	ENST00000443617.2	-	37	7076	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2330					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6988-6990)cGc>cAc		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							155	160	158					15																	63970125		2146	4261	6407	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970125C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6989G>A	15.37:g.63970125C>T	ENSP00000390158:p.Arg2330His						p.R2330H	NM_003922	NP_003913	Q15751	HERC1_HUMAN			36	7137	-			2330					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6989G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452210	0.96223	.	.	ENSG00000103657	ENST00000443617	T	0.31510	1.49	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.54271	0.1848	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.52563	-0.8559	10	0.87932	D	0	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	2330	Q15751	HERC1_HUMAN	H	2330	ENSP00000390158:R2330H	ENSP00000390158:R2330H	R	-	2	0	HERC1	61757178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	CGC		0.527	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63970125	C	T	63970125	3	4	209	1	0	0	0	0	1	0	0	0	7057	768	27	1	7764	1	HERC1	15	63970125	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		63970125	38561267	47	14634											
A2BP1	54715	broad.mit.edu	37	chr16	7629900	7629900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcaggttccgggatcCggacctcagacaaatgtttg	8	10	10	13	2	2	1	2	0	0	1	4	3	4	3	5	3	0	2	5	3	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:7629900C>T	ENST00000550418.1	+	6	1380	c.392C>T	c.(391-393)cCg>cTg	p.P131L	RBFOX1_ENST00000355637.4_Missense_Mutation_p.P151L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P151L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P151L|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P136L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P131L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P174L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P174L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P131L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P166L|RBFOX1_ENST00000535565.2_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	131	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCCGGGATCCGGACCTCAGA	0.537																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(391-393)cCg>cTg		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.							93	86	88					16																	7629900		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629900C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.392C>T	16.37:g.7629900C>T	ENSP00000450031:p.Pro131Leu					RBFOX1_uc010buf.1_Missense_Mutation_p.P131L|RBFOX1_uc002cyr.1_Missense_Mutation_p.P130L|RBFOX1_uc002cyt.2_Missense_Mutation_p.P131L|RBFOX1_uc010uxz.1_Missense_Mutation_p.P174L|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.P131L|RBFOX1_uc010uyb.1_Missense_Mutation_p.P131L|RBFOX1_uc002cyw.2_Missense_Mutation_p.P151L|RBFOX1_uc002cyy.2_Missense_Mutation_p.P151L|RBFOX1_uc002cyx.2_Missense_Mutation_p.P151L|RBFOX1_uc010uyc.1_Missense_Mutation_p.P151L	p.P131L	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			5	1380	+			131			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.392C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354772	0.95854	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.35236	2.41;2.41;2.41;2.41;2.41;1.32;2.41;2.41;2.41;2.41;2.41;2.41	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	N	0.10837	0.055	0.80722	D	1	D;P;D;D;D;P;D;D	0.89917	0.982;0.805;1.0;0.998;1.0;0.929;0.987;0.984	P;B;D;D;D;P;P;P	0.97110	0.766;0.402;1.0;0.971;0.997;0.495;0.871;0.813	T	0.56275	-0.8006	10	0.87932	D	0	-8.0831	19.1841	0.93635	0.0:1.0:0.0:0.0	.	151;174;151;151;151;131;131;174	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	L	130;131;131;174;174;166;131;131;151;151;151;151;136	ENSP00000450402:P130L;ENSP00000450031:P131L;ENSP00000447753:P131L;ENSP00000446842:P174L;ENSP00000391269:P174L;ENSP00000448496:P166L;ENSP00000447281:P131L;ENSP00000447717:P131L;ENSP00000402745:P151L;ENSP00000309117:P151L;ENSP00000347855:P151L;ENSP00000344196:P136L	ENSP00000309117:P151L	P	+	2	0	RBFOX1	7569901	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.461000	0.80834	2.537000	0.85549	0.655000	0.94253	CCG		0.537	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		T	7629900	C	T	7629900	3	4	209	1	0	0	0	0	1	0	0	0	3	652	23	2	493	2	A2BP1	16	7629900	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		7629900	82724853	48	14635											
LCAT	3931	broad.mit.edu	37	chr16	67976842	67976842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatctggacaccaggggCgttggacacgagcccagagc	9	4	16	12	3	1	1	0	0	1	1	1	5	1	4	2	5	2	1	2	5	0	1	rs28940886		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:67976842C>T	ENST00000264005.5	-	3	378	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	117			A -> T (in LCATD; dbSNP:rs28940886). {ECO:0000269|PubMed:8318557, ECO:0000269|PubMed:8432868}.		cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ACACCAGGGGCGTTGGACACG	0.642																																						uc002euy.1																			0				cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16	GRCh37	CM930463	LCAT	M	rs28940886	c.(349-351)Gcc>Acc		Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.							67	74	72					16																	67976842		2198	4300	6498	SO:0001583	missense	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976842C>T		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.349G>A	16.37:g.67976842C>T	ENSP00000264005:p.Ala117Thr						p.A117T	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	2	360	-		Ovarian(137;0.0563)	117		A -> T (in LCATD; dbSNP:rs28940886).			Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	c.349G>A	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204292	0.22205	.	.	ENSG00000213398	ENST00000264005	D	0.95724	-3.79	5.98	5.98	0.97165	.	0.072028	0.53938	U	0.000051	D	0.95937	0.8677	L	0.56199	1.76	0.37303	D	0.908776	D	0.71674	0.998	P	0.58130	0.833	D	0.94418	0.7638	10	0.14252	T	0.57	-17.2795	18.0148	0.89236	0.0:1.0:0.0:0.0	rs28940886	117	P04180	LCAT_HUMAN	T	117	ENSP00000264005:A117T	ENSP00000264005:A117T	A	-	1	0	LCAT	66534343	0.997000	0.39634	1.000000	0.80357	0.841000	0.47740	3.050000	0.49877	2.861000	0.98227	0.650000	0.86243	GCC		0.642	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			T	67976842	C	T	67976842	3	4	209	1	0	0	0	0	1	0	0	0	8658	768	27	1	989	1	LCAT	16	67976842	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	60346942	67976842	22377911	49	14636											
USP6	9098	broad.mit.edu	37	chr17	5037198	5037198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagatcatgaaggagagggGcaagaggtcatctgaacaca	16	5	13	7	0	3	5	2	2	1	3	3	6	3	5	0	4	1	1	0	4	3	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:5037198G>A	ENST00000574788.1	+	15	2631	c.401G>A	c.(400-402)gGc>gAc	p.G134D	USP6_ENST00000332776.4_Missense_Mutation_p.G134D|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.G134D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	134	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGGAGAGGGGCAAGAGGTCA	0.552			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(400-402)gGc>gAc		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							193	171	178					17																	5037198		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5037198G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.401G>A	17.37:g.5037198G>A	ENSP00000460380:p.Gly134Asp					USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.G195D|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	p.G134D	NM_004505	NP_004496	P35125	UBP6_HUMAN			14	2631	+			134			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.401G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249923	0.39797	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.10668	2.85;2.85	0.862	0.862	0.19056	Rab-GAP/TBC domain (4);	0.108809	0.64402	D	0.000004	T	0.09247	0.0228	L	0.58428	1.81	0.52501	D	0.999952	P;P	0.52061	0.894;0.95	B;B	0.39119	0.291;0.28	T	0.12293	-1.0553	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	134;134	B9A6N0;P35125	.;UBP6_HUMAN	D	134	ENSP00000328010:G134D;ENSP00000250066:G134D	ENSP00000250066:G134D	G	+	2	0	USP6	4977922	1.000000	0.71417	0.115000	0.21578	0.116000	0.19942	2.224000	0.42945	0.132000	0.18615	0.134000	0.15878	GGC		0.552	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5037198	G	A	5037198	3	1	209	1	0	0	0	0	1	0	0	0	17083	1203	42	3	423	3	USP6	17	5037198	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		5037198	76158012	50	14637											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	10	10	6	15	1	1	1	1	0	0	1	4	1	3	1	4	0	3	4	4	0	4	4	rs193920774		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	44	46					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G266V	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	991	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577141	C	A	7577141	3	1	209	1	0	0	0	0	1	0	0	0	16378	855	30	5	489	5	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	2539943	7577141	73618069	51	14638											
KRT40	125115	broad.mit.edu	37	chr17	39135111	39135111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgatctcaccctccagccGggccttcacgtccaggagca	7	8	10	16	2	2	1	2	1	1	0	5	2	4	2	5	2	2	2	5	2	0	2	rs200561810		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:39135111G>A	ENST00000398486.2	-	8	1301	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	KRT40_ENST00000377755.4_Missense_Mutation_p.R381W|AC004231.2_ENST00000418393.1_RNA	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	381	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTCCAGCCGGGCCTTCACG	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		15977	0		0	False		,,,				2504	0					uc010cxh.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1141-1143)Cgg>Tgg		Homo sapiens keratin 40 (KRT40), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	83	92	89		1141	3.5	1	17		89	0,8592		0,0,4296	no	missense	KRT40	NM_182497.3	101	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	381/432	39135111	1,12997	2203	4296	6499	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39135111G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1141C>T	17.37:g.39135111G>A	ENSP00000381500:p.Arg381Trp					KRT40_uc002hvq.1_Non-coding_Transcript	p.R381W	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			7	1302	-		Breast(137;0.00043)	381			Coil 2.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.1141C>T	CCDS42320.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.26	3.792495	0.70452	2.27E-4	0.0	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.56	3.49	0.39957	Filament (1);	0.290973	0.18619	N	0.135928	D	0.94974	0.8374	H	0.97186	3.955	0.33265	D	0.560293	D	0.56521	0.976	P	0.54238	0.746	D	0.97038	0.9755	10	0.87932	D	0	.	13.1158	0.59299	0.0:0.0:0.5354:0.4646	.	381	Q6A162	K1C40_HUMAN	W	381	ENSP00000366984:R381W;ENSP00000381500:R381W	ENSP00000366984:R381W	R	-	1	2	KRT40	36388637	0.053000	0.20554	1.000000	0.80357	0.742000	0.42306	2.190000	0.42630	0.732000	0.32470	0.655000	0.94253	CGG		0.582	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		A	39135111	G	A	39135111	3	1	209	1	0	0	0	0	1	0	0	0	8478	1115	39	2	162	2	KRT40	17	39135111	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	31557970	39135111	42060099	52	14639											
SP6	80320	broad.mit.edu	37	chr17	45925367	45925367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgaagcgcccccgggtgGccaggtgaggtcagcgcgcc	5	4	17	15	4	1	2	1	2	0	0	1	2	1	2	5	4	2	0	5	4	1	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:45925367G>A	ENST00000536300.1	-	2	760	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SP6_ENST00000342234.2_Silent_p.G143G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	143					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCCCGGGTGGCCAGGTGAGG	0.706																																						uc002imh.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(427-429)ggC>ggT		Homo sapiens Sp6 transcription factor (SP6), mRNA.							12	14	14					17																	45925367		2183	4285	6468	SO:0001819	synonymous_variant	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45925367G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.429C>T	17.37:g.45925367G>A						SP6_uc002img.1_Silent_p.G143G|SP6_uc021tzc.1_Silent_p.G143G	p.G143G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			1	707	-			143					B3KXS4	Silent	SNP	ENST00000536300.1	37	c.429C>T	CCDS11520.1																																																																																				0.706	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		A	45925367	G	A	45925367	2	1	209	1	0	0	0	0	0	0	0	1	14968	1190	42	3		3	SP6	17	45925367	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	6790256	45925367	35269843	53	14640											
OTOP2	92736	broad.mit.edu	37	chr17	72926423	72926423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctctgcagcacggcCgtctgccagatcttccagca	6	9	9	17	2	3	1	0	0	3	1	5	1	5	1	5	1	5	3	5	1	0	1	rs369210322		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:72926423C>T	ENST00000580223.1	+	5	723	c.693C>T	c.(691-693)gcC>gcT	p.A231A	OTOP2_ENST00000331427.4_Silent_p.A231A			Q7RTS6	OTOP2_HUMAN	otopetrin 2	231						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCACGGCCGTCTGCCAGA	0.562													C|||	1	0.000199681	0	0	5008	,	,		18419	0.001		0	False		,,,				2504	0					uc010wrp.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(691-693)gcC>gcT		Homo sapiens otopetrin 2 (OTOP2), mRNA.							134	129	131					17																	72926423		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926423C>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.693C>T	17.37:g.72926423C>T							p.A231A	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			5	785	+	all_lung(278;0.172)|Lung NSC(278;0.207)		231						Silent	SNP	ENST00000580223.1	37	c.693C>T	CCDS11708.1																																																																																				0.562	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		T	72926423	C	T	72926423	2	4	209	1	0	0	0	0	0	0	0	1	11306	639	23	2		2	OTOP2	17	72926423	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	27001056	72926423	8268787	54	14641											
PRPSAP1	5635	broad.mit.edu	37	chr17	74326154	74326154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaggagacttagctacaAtgactgcatttctgtaattt	12	14	7	8	0	2	2	1	1	1	1	2	3	2	2	0	1	3	3	0	1	4	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:74326154A>G	ENST00000446526.3	-	6	1050	c.605T>C	c.(604-606)aTt>aCt	p.I202T	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.I99T	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	173					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTAGCTACAATGACTGCATT	0.393																																						uc010wtb.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(295-297)aTt>aCt		Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.							162	155	157					17																	74326154		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74326154A>G	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.605T>C	17.37:g.74326154A>G	ENSP00000414624:p.Ile202Thr					PRPSAP1_uc010wta.1_Missense_Mutation_p.I202T	p.I99T	NM_002766	NP_002757	Q14558	KPRA_HUMAN			5	517	-			173					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.296T>C	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.775814	0.90195	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	H	0.95745	3.715	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.66979	0.844;0.948	D	0.93753	0.7060	10	0.87932	D	0	.	15.7287	0.77784	1.0:0.0:0.0:0.0	.	173;202	Q14558;Q14558-2	KPRA_HUMAN;.	T	202;99;99;99	ENSP00000414624:I202T;ENSP00000314973:I99T;ENSP00000392838:I99T;ENSP00000387494:I99T	ENSP00000314973:I99T	I	-	2	0	PRPSAP1	71837749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.062000	0.93920	2.168000	0.68352	0.533000	0.62120	ATT		0.393	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		G	74326154	A	G	74326154	3	3	209	1	0	0	0	0	1	0	0	0	12581	101	4	4	572	4	PRPSAP1	17	74326154	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	1399731	74326154	6869056	55	14642											
COLEC12	81035	broad.mit.edu	37	chr18	335090	335090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctctccggggggaccagCtggtccaattgggcctctct	5	9	13	14	2	2	0	0	0	2	0	5	1	3	1	4	5	1	2	4	5	1	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr18:335090C>G	ENST00000400256.3	-	6	1675	c.1468G>C	c.(1468-1470)Gct>Cct	p.A490P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	490	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGACCAGCTGGTCCAATT	0.677																																						uc002kkm.3																			0		p.P489L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1468-1470)Gct>Cct		Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.							31	34	33					18																	335090		2192	4286	6478	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335090C>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1468G>C	18.37:g.335090C>G	ENSP00000383115:p.Ala490Pro						p.A490P	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1683	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	490			Collagen-like 2.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1468G>C	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	5.827	0.336844	0.11013	.	.	ENSG00000158270	ENST00000400256	T	0.19938	2.11	5.67	2.49	0.30216	.	0.465546	0.25397	N	0.030963	T	0.06280	0.0162	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40289	-0.9571	10	0.05959	T	0.93	-1.0244	6.5749	0.22560	0.0:0.5504:0.1322:0.3174	.	490	Q5KU26	COL12_HUMAN	P	490	ENSP00000383115:A490P	ENSP00000383115:A490P	A	-	1	0	COLEC12	325090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.152000	0.16302	0.727000	0.32360	0.655000	0.94253	GCT		0.677	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			G	335090	C	G	335090	3	3	209	1	0	0	0	0	1	0	0	0	3712	797	28	5	780	5	COLEC12	18	335090	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		335090	77742158	56	14643											
ICAM1	3383	broad.mit.edu	37	chr19	10394791	10394791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtggtctgttccctggaCgggctgttcccagtctcgga	4	11	13	13	3	2	0	0	0	2	0	5	2	4	2	3	4	0	3	3	4	0	2	rs143689328	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:10394791C>T	ENST00000264832.3	+	4	1045	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	240	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GTTCCCTGGACGGGCTGTTCC	0.637																																						uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(718-720)gaC>gaT		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)	T		1,4405	2.1+/-5.4	0,1,2202	70	64	66		720	-8.6	0	19	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ICAM1	NM_000201.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		240/533	10394791	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394791C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.720C>T	19.37:g.10394791C>T						ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	p.D240D	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		3	1039	+			240			Ig-like C2-type 3.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.720C>T	CCDS12231.1																																																																																				0.637	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			T	10394791	C	T	10394791	2	4	209	1	0	0	0	0	0	0	0	1	7479	535	19	1		1	ICAM1	19	10394791	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08		10394791	48734192	57	14644											
SMARCA4	6597	broad.mit.edu	37	chr19	11132404	11132404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggggcccgcagatcCgttggaagtacatgattgtg	8	10	13	10	2	1	2	0	1	1	1	2	3	2	3	2	3	1	3	2	3	2	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:11132404C>T	ENST00000429416.3	+	20	2901	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.R874C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R874C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R874C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R874C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R874C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R874C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R874C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R874C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	874	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCGCAGATCCGTTGGAAGTA	0.632			"F, N, Mis"		NSCLC																																	uc010dxp.3				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2620-2622)Cgt>Tgt		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.							46	38	40					19																	11132404		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132404C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2620C>T	19.37:g.11132404C>T	ENSP00000395654:p.Arg874Cys					SMARCA4_uc010dxo.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.4_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	p.R874C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN			19	2980	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	874			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2620C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381646	0.61845	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	4.66	4.66	0.58398	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96021	0.8704	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.79784	0.985;0.985;0.985;0.985;0.993;0.967;0.985;0.985	D	0.96512	0.9379	10	0.87932	D	0	-20.8892	16.4906	0.84200	0.0:1.0:0.0:0.0	.	874;874;874;874;874;94;874;874	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	C	874;874;938;874;874;874;874;874	ENSP00000395654:R874C;ENSP00000350720:R874C;ENSP00000343896:R874C;ENSP00000445036:R874C;ENSP00000392837:R874C;ENSP00000397783:R874C;ENSP00000414727:R874C	ENSP00000343896:R874C	R	+	1	0	SMARCA4	10993404	1.000000	0.71417	0.996000	0.52242	0.089000	0.18198	5.924000	0.70054	2.425000	0.82216	0.655000	0.94253	CGT		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11132404	C	T	11132404	3	4	209	1	0	0	0	0	1	0	0	0	14770	652	23	2	2690	2	SMARCA4	19	11132404	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	737613	11132404	47996579	58	14645											
ZNF625	90589	broad.mit.edu	37	chr19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgagttctttcatgtattCgaaggctaccagaatgacta	11	14	9	7	1	2	3	1	2	1	1	3	4	2	3	1	1	1	3	1	1	5	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:12256527C>T	ENST00000355738.1	-	4	855	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.R235Q|ZNF625_ENST00000542938.1_Missense_Mutation_p.R169Q			Q96I27	ZN625_HUMAN	zinc finger protein 625	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408																																						uc010dyo.2																			2	Substitution - Missense(2)	p.R169Q(2)	large_intestine(2)	breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(703-705)cGa>cAa		Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.							134	122	126					19																	12256527		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256527C>T	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.506G>A	19.37:g.12256527C>T	ENSP00000347977:p.Arg169Gln					ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.R169Q|ZNF625_uc021upn.1_Missense_Mutation_p.R169Q	p.R235Q	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			3	877	-			169					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.704G>A		.	.	.	.	.	.	.	.	.	.	C	7.205	0.594292	0.13875	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07444	3.19;3.19;3.19	0.856	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.20986	0.625	0.09310	N	1	B;B	0.34329	0.192;0.449	B;B	0.26614	0.001;0.071	T	0.44112	-0.9349	9	0.20519	T	0.43	.	5.913	0.19039	0.0:0.6765:0.0:0.3235	.	169;169	A8K8U0;Q96I27	.;ZN625_HUMAN	Q	169;169;235	ENSP00000438436:R169Q;ENSP00000347977:R169Q;ENSP00000394380:R235Q	ENSP00000347977:R169Q	R	-	2	0	AC022415.5	12117527	0.000000	0.05858	0.017000	0.16124	0.828000	0.46876	-2.546000	0.00932	-0.603000	0.05767	0.313000	0.20887	CGA		0.408	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		T	12256527	C	T	12256527	3	4	209	1	0	0	0	0	1	0	0	0	18046	884	31	2	418	2	ZNF625	19	12256527	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	1124123	12256527	46872456	59	14646											
B3GNT3	10331	broad.mit.edu	37	chr19	17922705	17922705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttccccattgatgatgTcttcctgggtatgtgtctgg	5	16	10	10	0	3	2	0	2	3	0	5	2	5	2	3	2	0	1	3	2	1	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17922705T>C	ENST00000318683.6	+	3	1040	c.893T>C	c.(892-894)gTc>gCc	p.V298A	B3GNT3_ENST00000595387.1_Missense_Mutation_p.V298A	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	298					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ATTGATGATGTCTTCCTGGGT	0.632																																						uc002nhl.1																			0		p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(892-894)gTc>gCc		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.							137	119	125					19																	17922705		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922705T>C	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.893T>C	19.37:g.17922705T>C	ENSP00000321874:p.Val298Ala					B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	p.V298A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	1040	+			298					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.893T>C	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	T	6.648	0.488022	0.12641	.	.	ENSG00000179913	ENST00000318683	T	0.51574	0.7	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.44664	0.1304	L	0.49571	1.57	0.50813	D	0.999892	B	0.17465	0.022	B	0.29785	0.107	T	0.32428	-0.9907	10	0.23302	T	0.38	.	13.0416	0.58901	0.0:0.0:0.0:1.0	.	298	Q9Y2A9	B3GN3_HUMAN	A	298	ENSP00000321874:V298A	ENSP00000321874:V298A	V	+	2	0	B3GNT3	17783705	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	3.982000	0.56909	1.983000	0.57843	0.459000	0.35465	GTC		0.632	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		C	17922705	T	C	17922705	3	2	209	1	0	0	0	0	1	0	0	0	1258	1667	58	4	899	4	B3GNT3	19	17922705	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	5666178	17922705	41206278	60	14647											
JAK3	3718	broad.mit.edu	37	chr19	17943330	17943330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccgggagctggctcacccGggccatagctgacaccacga	9	5	12	15	3	1	1	1	1	0	0	2	3	2	2	4	3	2	3	4	3	1	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17943330G>A	ENST00000527670.1	-	18	2707	c.2678C>T	c.(2677-2679)cCg>cTg	p.P893L	JAK3_ENST00000534444.1_Missense_Mutation_p.P893L|JAK3_ENST00000458235.1_Missense_Mutation_p.P893L			P52333	JAK3_HUMAN	Janus kinase 3	893	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGGCTCACCCGGGCCATAGCT	0.542		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	uc002nhn.4		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2677-2679)cCg>cTg		Homo sapiens Janus kinase 3 (JAK3), mRNA.							97	89	92					19																	17943330		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943330G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2678C>T	19.37:g.17943330G>A	ENSP00000432511:p.Pro893Leu					JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	p.P893L	NM_000215	NP_000206	P52333	JAK3_HUMAN			18	2778	-			893			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2678C>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	8.339	0.828350	0.16749	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.89617	-0.04;-0.04;-2.54	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.348186	0.29745	N	0.011310	D	0.84156	0.5410	L	0.35542	1.07	0.52099	D	0.999944	D;P	0.58970	0.984;0.648	P;B	0.44447	0.45;0.063	T	0.83064	-0.0146	10	0.28530	T	0.3	-18.6685	15.1136	0.72380	0.0:0.0:1.0:0.0	.	893;893	P52333-2;P52333	.;JAK3_HUMAN	L	893	ENSP00000391676:P893L;ENSP00000432511:P893L;ENSP00000436421:P893L	ENSP00000391676:P893L	P	-	2	0	JAK3	17804330	0.992000	0.36948	0.888000	0.34837	0.212000	0.24457	2.185000	0.42584	2.510000	0.84645	0.549000	0.68633	CCG		0.542	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17943330	G	A	17943330	3	1	209	1	0	0	0	0	1	0	0	0	7939	1116	39	2	720	2	JAK3	19	17943330	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	20625	17943330	41185653	61	14648											
ZNF792	126375	broad.mit.edu	37	chr19	35449589	35449589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactcatgggcacttctGcccgtatgaaccctcttatg	7	12	8	14	1	3	1	1	1	2	0	3	1	3	1	2	1	3	3	2	1	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:35449589G>A	ENST00000404801.1	-	4	1556	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	ZNF792_ENST00000605484.1_Silent_p.G323G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTTCTGCCCGTATGAA	0.468																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1168-1170)ggC>ggT		Homo sapiens zinc finger protein 792 (ZNF792), mRNA.							49	45	47					19																	35449589		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449589G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1170C>T	19.37:g.35449589G>A							p.G390G	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	1557	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		390					B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.1170C>T	CCDS12440.2																																																																																				0.468	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		A	35449589	G	A	35449589	2	1	209	1	0	0	0	0	0	0	0	1	18161	1306	46	3		3	ZNF792	19	35449589	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	17506259	35449589	23679394	62	14649											
FCGBP	8857	broad.mit.edu	37	chr19	40360855	40360855	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccaagcccctactcaCcggcaagtatcggccattat	10	7	6	18	2	1	0	1	0	0	0	2	0	1	0	7	2	2	2	7	2	5	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:40360855C>A	ENST00000221347.6	-	33	15560		c.e33+1			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCTACTCACCGGCAAGTAT	0.577																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.e33+1		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							52	52	52					19																	40360855		2203	4300	6503	SO:0001630	splice_region_variant	8857					extracellular region	protein binding	g.chr19:40360855C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15552+1G>T	19.37:g.40360855C>A							p.P5184_splice	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		33	15560	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5184			Cys-rich.		O95784	Splice_Site	SNP	ENST00000221347.6	37	c.15552_splice	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157221	0.78114	.	.	ENSG00000090920	ENST00000221347	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3345	0.74241	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCGBP	45052695	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	4.968000	0.63728	2.492000	0.84095	0.563000	0.77884	.		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	Intron	A	40360855	C	A	40360855	5	1	209	1	0	0	0	0	0	0	1	0	5778	521	18	5	680	5	FCGBP	19	40360855	Splice_Site	SNP	C	TCGA-28-5207-01A-01D-1486-08	4911266	40360855	18768128	63	14650											
C19orf48	84798	broad.mit.edu	37	chr19	51301380	51301380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagctcccccaggattCtggcctgcttcacccctgga	6	8	11	16	0	2	0	1	0	1	0	3	3	3	3	5	4	3	3	5	4	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51301380C>A	ENST00000598463.1	-	5	1424	c.326G>T	c.(325-327)aGa>aTa	p.R109I	C19orf48_ENST00000596655.1_Missense_Mutation_p.R109I|C19orf48_ENST00000391812.1_Missense_Mutation_p.R109I|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.R109I|C19orf48_ENST00000595794.1_5'Flank|SNORD88B_ENST00000408454.1_RNA			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	109										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCAGGATTCTGGCCTGCTT	0.627																																						uc002ptf.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(325-327)aGa>aTa		Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.							87	89	88					19																	51301380		2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301380C>A	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"multidrug resistance-related protein"					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.326G>T	19.37:g.51301380C>A	ENSP00000471463:p.Arg109Ile					C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.R109I|C19orf48_uc021uyh.1_Missense_Mutation_p.R109I	p.R109I	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	4	1248	-		all_neural(266;0.057)	109						Missense_Mutation	SNP	ENST00000598463.1	37	c.326G>T	CCDS12803.1	.	.	.	.	.	.	.	.	.	.	c	4.207	0.037224	0.08148	.	.	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.31247	1.5;1.5	2.03	-3.61	0.04556	.	.	.	.	.	T	0.16300	0.0392	N	0.14661	0.345	0.09310	N	1	P	0.42941	0.794	B	0.42916	0.402	T	0.14035	-1.0487	9	0.87932	D	0	.	3.7409	0.08530	0.0:0.2643:0.2068:0.5288	.	109	Q6RUI8	CS048_HUMAN	I	109	ENSP00000375688:R109I;ENSP00000301419:R109I	ENSP00000301419:R109I	R	-	2	0	C19orf48	55993192	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.942000	0.03921	-0.912000	0.03837	-0.367000	0.07326	AGA		0.627	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		A	51301380	C	A	51301380	3	1	209	1	0	0	0	0	1	0	0	0	1931	913	32	5	31	5	C19orf48	19	51301380	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	10940525	51301380	7827603	64	14651											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960480	51960480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtcatggtcaagttccaagGagggtctgggacagaaagac	13	7	14	7	0	3	2	2	0	1	2	4	4	4	4	1	4	0	1	1	4	3	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51960480G>C	ENST00000321424.3	-	3	805	c.739C>G	c.(739-741)Cct>Gct	p.P247A	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P154A|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTTCCAAGGAGGGTCTGGG	0.557																																						uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(739-741)Cct>Gct		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.							92	88	89					19																	51960480		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960480G>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.739C>G	19.37:g.51960480G>C	ENSP00000321077:p.Pro247Ala					SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	p.P247A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	806	-		all_neural(266;0.0199)	247			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.739C>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889157	0.33348	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.80480	-0.72;-1.38	2.14	2.14	0.27477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32935	U	0.005465	D	0.88336	0.6409	M	0.89534	3.04	0.09310	N	1	D;P	0.54397	0.966;0.739	D;P	0.63033	0.91;0.574	T	0.78448	-0.2200	10	0.72032	D	0.01	.	7.8866	0.29653	0.0:0.0:1.0:0.0	.	154;247	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	A	247;154	ENSP00000321077:P247A;ENSP00000339448:P154A	ENSP00000321077:P247A	P	-	1	0	SIGLEC8	56652292	0.010000	0.17322	0.003000	0.11579	0.070000	0.16714	1.574000	0.36482	1.496000	0.48567	0.508000	0.49915	CCT		0.557	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		C	51960480	G	C	51960480	3	2	209	1	0	0	0	0	1	0	0	0	14314	1174	41	5	780	5	SIGLEC8	19	51960480	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	659100	51960480	7168503	65	14652											
ADRBK2	157	broad.mit.edu	37	chr22	26117315	26117315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaattaaagacaaaaaatGcattttgttcagaataaaag	21	11	5	4	0	2	2	2	0	0	2	2	2	2	2	0	0	1	2	0	0	9	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:26117315G>A	ENST00000324198.6	+	20	2048	c.1856G>A	c.(1855-1857)tGc>tAc	p.C619Y		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	619	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GACAAAAAATGCATTTTGTTC	0.274																																						uc003abx.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1855-1857)tGc>tAc		Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	Adenosine triphosphate(DB00171)						70	81	77					22																	26117315		2203	4295	6498	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26117315G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1856G>A	22.37:g.26117315G>A	ENSP00000317578:p.Cys619Tyr					ADRBK2_uc003aby.4_Non-coding_Transcript	p.C619Y	NM_005160	NP_005151	P35626	ARBK2_HUMAN			19	2003	+			619			PH.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1856G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306049	0.81247	.	.	ENSG00000100077	ENST00000324198	T	0.75154	-0.91	5.68	5.68	0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.85876	0.1419	10	0.87932	D	0	-27.2752	18.7787	0.91922	0.0:0.0:1.0:0.0	.	619	P35626	ARBK2_HUMAN	Y	619	ENSP00000317578:C619Y	ENSP00000317578:C619Y	C	+	2	0	ADRBK2	24447315	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	8.968000	0.93407	2.680000	0.91292	0.655000	0.94253	TGC		0.274	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		A	26117315	G	A	26117315	3	1	209	1	0	0	0	0	1	0	0	0	344	1319	46	3	1934	3	ADRBK2	22	26117315	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		26117315	25187251	66	14653											
DDX17	10521	broad.mit.edu	37	chr22	38883964	38883964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattggcctcttccagcactTtgataagctctctggcctgt	6	14	9	12	0	2	1	0	1	2	0	4	2	3	1	3	2	2	2	3	2	1	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:38883964T>C	ENST00000396821.3	-	12	1703	c.1604A>G	c.(1603-1605)aAa>aGa	p.K535R	DDX17_ENST00000381633.3_Missense_Mutation_p.K458R|DDX17_ENST00000432525.1_5'Flank|DDX17_ENST00000444597.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	535	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTCCAGCACTTTGATAAGCTC	0.547																																					Ovarian(55;1085 1454 6392 21425)	uc003avy.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1603-1605)aAa>aGa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.							155	137	143					22																	38883964		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38883964T>C	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1604A>G	22.37:g.38883964T>C	ENSP00000380033:p.Lys535Arg					DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.K535R	p.K535R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			11	1707	-	Melanoma(58;0.0286)		456					B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.1604A>G	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140651	0.37825	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.28895	1.6;1.6;1.59	5.25	5.25	0.73442	.	0.044586	0.85682	D	0.000000	T	0.27384	0.0672	L	0.37697	1.125	0.80722	D	1	B;B	0.18968	0.019;0.032	B;B	0.19148	0.011;0.024	T	0.03268	-1.1054	10	0.41790	T	0.15	-16.4607	15.4641	0.75384	0.0:0.0:0.0:1.0	.	537;535	Q59F66;Q92841-4	.;.	R	535;458;535;537	ENSP00000380033:K535R;ENSP00000371046:K458R;ENSP00000385536:K535R	ENSP00000371046:K458R	K	-	2	0	DDX17	37213910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.121000	0.50438	2.105000	0.64084	0.533000	0.62120	AAA		0.547	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		C	38883964	T	C	38883964	3	2	209	1	0	0	0	0	1	0	0	0	4344	1841	64	4	599	4	DDX17	22	38883964	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	12766649	38883964	12420602	67	14654											
PHF8	23133	broad.mit.edu	37	chrX	54037681	54037681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagagagtcagattggCatttgttgggcggatcaggt	10	11	14	6	1	3	2	3	0	0	2	3	4	3	3	0	4	0	2	0	4	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:54037681C>G	ENST00000357988.5	-	8	1286	c.928G>C	c.(928-930)Gcc>Ccc	p.A310P	PHF8_ENST00000322659.8_Missense_Mutation_p.A274P|PHF8_ENST00000338946.6_Missense_Mutation_p.A274P|PHF8_ENST00000338154.6_Missense_Mutation_p.A274P	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	310	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCAGATTGGCATTTGTTGGG	0.448																																						uc004dsu.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(928-930)Gcc>Ccc		Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.							92	75	81					X																	54037681		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54037681C>G	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.928G>C	X.37:g.54037681C>G	ENSP00000350676:p.Ala310Pro					PHF8_uc004dsv.3_Missense_Mutation_p.A140P|PHF8_uc004dst.3_Missense_Mutation_p.A274P|PHF8_uc004dsw.3_Missense_Mutation_p.A274P|PHF8_uc004dsx.3_Missense_Mutation_p.A38P|PHF8_uc004dsy.3_Missense_Mutation_p.A274P	p.A310P	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN			7	1174	-			310			JmjC.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.928G>C	CCDS55420.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.9|22.9|22.9	4.346646|4.346646|4.346646	0.82022|0.82022|0.82022	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302|ENST00000396282	T;T;T;T|.|.	0.69306|.|.	-0.39;-0.39;-0.39;-0.39|.|.	5.48|5.48|5.48	5.48|5.48|5.48	0.80851|0.80851|0.80851	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.|.	0.050033|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.57548|0.57548|0.57548	0.2061|0.2061|0.2061	L|L|L	0.43598|0.43598|0.43598	1.365|1.365|1.365	0.51767|0.51767|0.51767	D|D|D	0.999932|0.999932|0.999932	D;D;D;D|.|.	0.76494|.|.	0.989;0.999;0.997;0.992|.|.	P;D;P;P|.|.	0.65684|.|.	0.801;0.937;0.833;0.871|.|.	T|T|T	0.55392|0.55392|0.55392	-0.8148|-0.8148|-0.8148	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	-6.4182|-6.4182|-6.4182	10.6743|10.6743|10.6743	0.45776|0.45776|0.45776	0.0:0.9083:0.0:0.0917|0.0:0.9083:0.0:0.0917|0.0:0.9083:0.0:0.0917	.|.|.	274;274;310;310|.|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.|.	.;.;.;PHF8_HUMAN|.|.	P|S|I	310;274;274;304;274|37|177	ENSP00000350676:A310P;ENSP00000338868:A274P;ENSP00000340051:A274P;ENSP00000319473:A274P|.|.	ENSP00000319473:A274P|.|.	A|C|M	-|-|-	1|2|3	0|0|0	PHF8|PHF8|PHF8	54054406|54054406|54054406	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.971000|0.971000|0.971000	0.66376|0.66376|0.66376	4.961000|4.961000|4.961000	0.63681|0.63681|0.63681	2.277000|2.277000|2.277000	0.76020|0.76020|0.76020	0.415000|0.415000|0.415000	0.27848|0.27848|0.27848	GCC|TGC|ATG		0.448	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		G	54037681	C	G	54037681	3	3	209	1	0	0	0	0	1	0	0	0	11840	710	25	5	2484	5	PHF8	23	54037681	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		54037681	101232879	68	14655											
MAGEE1	57692	broad.mit.edu	37	chrX	75649443	75649443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgccgcccaccgcctctGatggatcggacacctccgtg	5	8	11	17	4	1	1	0	1	1	0	3	3	2	3	6	2	1	0	6	2	0	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:75649443G>C	ENST00000361470.2	+	1	1398	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	374	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCGCCTCTGATGGATCGGA	0.677																																						uc004ecm.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1120-1122)Gat>Cat		Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.							35	27	29					X																	75649443		2203	4298	6501	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649443G>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1120G>C	X.37:g.75649443G>C	ENSP00000354912:p.Asp374His						p.D374H	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			0	1398	+			374			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1120G>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	8.080	0.772273	0.16051	.	.	ENSG00000198934	ENST00000361470	T	0.10099	2.91	2.13	0.113	0.14631	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.01281	0.0	T	0.36768	-0.9734	9	0.66056	D	0.02	.	4.0734	0.09892	0.1743:0.4704:0.3553:0.0	.	374	Q9HCI5	MAGE1_HUMAN	H	374	ENSP00000354912:D374H	ENSP00000354912:D374H	D	+	1	0	MAGEE1	75565847	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.792000	0.04594	-0.081000	0.12662	0.506000	0.49869	GAT		0.677	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		C	75649443	G	C	75649443	3	2	209	1	0	0	0	0	1	0	0	0	9185	1290	45	5	1122	5	MAGEE1	23	75649443	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	21611762	75649443	79621117	69	14656											
RPA4	29935	broad.mit.edu	37	chrX	96139742	96139742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagccttgaggtattgaaaAttcatgtcctagaggacatg	13	11	11	6	0	1	4	1	2	0	2	2	5	2	5	2	2	1	1	2	2	4	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:96139742A>G	ENST00000373040.3	+	1	836	c.433A>G	c.(433-435)Att>Gtt	p.I145V	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	145					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGTATTGAAAATTCATGTCCT	0.453								Other identified genes with known or suspected DNA repair function																														uc004efv.4																			0		p.I145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(433-435)Att>Gtt	Other identified genes with known or suspected DNA repair function	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.							118	102	108					X																	96139742		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139742A>G	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.433A>G	X.37:g.96139742A>G	ENSP00000362131:p.Ile145Val					DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	p.I145V	NM_013347	NP_037479	Q13156	RFA4_HUMAN			0	836	+			145					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.433A>G	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	A	9.368	1.069689	0.20147	.	.	ENSG00000204086	ENST00000373040	T	0.24908	1.83	3.81	1.38	0.22167	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	.	.	.	.	T	0.21103	0.0508	L	0.38692	1.165	0.09310	N	1	P	0.35328	0.495	B	0.43194	0.411	T	0.25257	-1.0137	9	0.31617	T	0.26	-18.273	2.5235	0.04685	0.6346:0.0:0.1294:0.236	.	145	Q13156	RFA4_HUMAN	V	145	ENSP00000362131:I145V	ENSP00000362131:I145V	I	+	1	0	RPA4	96026398	0.080000	0.21391	0.000000	0.03702	0.002000	0.02628	1.506000	0.35747	0.169000	0.19679	0.486000	0.48141	ATT		0.453	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		G	96139742	A	G	96139742	3	3	209	1	0	0	0	0	1	0	0	0	13539	101	4	4	435	4	RPA4	23	96139742	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	20490299	96139742	59130818	70	14657											
TMEM61	199964	broad.mit.edu	37	chr1	55457654	55457654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcagcacccagcccGcctggcctccacccagctat	6	6	7	22	1	1	0	1	0	0	0	2	0	2	0	7	1	4	3	7	1	1	1	rs527691651		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:55457654G>A	ENST00000371268.3	+	3	785	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	171						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CACCCAGCCCGCCTGGCCTCC	0.642																																						uc001cyd.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(511-513)Gcc>Acc		Homo sapiens transmembrane protein 61 (TMEM61), mRNA.							97	89	92					1																	55457654		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55457654G>A	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.511G>A	1.37:g.55457654G>A	ENSP00000360315:p.Ala171Thr						p.A171T	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			2	785	+			171						Missense_Mutation	SNP	ENST00000371268.3	37	c.511G>A	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.385896	0.25031	.	.	ENSG00000143001	ENST00000371268	T	0.45276	0.9	3.64	-2.12	0.07165	.	1.386920	0.04810	N	0.435015	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11179	-1.0598	10	0.30078	T	0.28	-0.0283	2.6038	0.04873	0.291:0.3289:0.2874:0.0926	.	171	Q8N0U2	TMM61_HUMAN	T	171	ENSP00000360315:A171T	ENSP00000360315:A171T	A	+	1	0	TMEM61	55230242	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-2.445000	0.01011	-0.417000	0.07461	-0.375000	0.07067	GCC		0.642	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		A	55457654	G	A	55457654	3	1	210	1	0	0	0	0	1	0	0	0	16185	1087	38	1	521	1	TMEM61	1	55457654	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		55457654	193792967	1	14658											
TTF2	8458	broad.mit.edu	37	chr1	117638845	117638845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcatggactgacttatgCcaccatcgatggctctgtca	10	10	10	11	1	2	1	1	1	1	0	3	4	2	2	2	2	2	2	2	2	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:117638845C>T	ENST00000369466.4	+	20	3154	c.3110C>T	c.(3109-3111)gCc>gTc	p.A1037V	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1037	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGACTTATGCCACCATCGAT	0.458																																						uc001egy.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3109-3111)gCc>gTc		Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.							106	92	97					1																	117638845		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117638845C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3110C>T	1.37:g.117638845C>T	ENSP00000358478:p.Ala1037Val						p.A1037V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	19	3130	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	1037			Helicase C-terminal.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.3110C>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499766	0.85176	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	T;T	0.77229	-1.08;-1.08	4.96	4.96	0.65561	Helicase, C-terminal (3);	0.000000	0.37393	N	0.002120	T	0.61874	0.2382	N	0.04297	-0.235	0.41422	D	0.987803	D	0.59767	0.986	P	0.62813	0.907	T	0.63976	-0.6515	10	0.13470	T	0.59	-8.3226	15.7384	0.77866	0.0:1.0:0.0:0.0	.	1037	Q9UNY4	TTF2_HUMAN	V	1037;18	ENSP00000358478:A1037V;ENSP00000408111:A18V	ENSP00000358478:A1037V	A	+	2	0	TTF2	117440368	0.998000	0.40836	0.981000	0.43875	0.993000	0.82548	2.877000	0.48506	2.584000	0.87258	0.455000	0.32223	GCC		0.458	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			T	117638845	C	T	117638845	3	4	210	1	0	0	0	0	1	0	0	0	16716	739	26	3	3188	3	TTF2	1	117638845	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	62181191	117638845	131611776	2	14659											
PI4KB	5298	broad.mit.edu	37	chr1	151271347	151271347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaactttgcacaaaattgCgctgtgcactgaggaatgcc	12	9	9	11	1	0	1	0	1	0	0	0	2	0	2	1	1	5	3	1	1	4	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:151271347C>T	ENST00000368873.1	-	9	2120	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	PI4KB_ENST00000271657.5_Missense_Mutation_p.R663H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R636H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R636H|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000529142.1_Missense_Mutation_p.R319H|PI4KB_ENST00000368875.2_Missense_Mutation_p.R663H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	651	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACAAAATTGCGCTGTGCACT	0.502																																					Colon(154;765 1838 9854 28443 37492)	uc001exr.3																			0		p.R663C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1987-1989)cGc>cAc		Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.							210	196	200					1																	151271347		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151271347C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1952G>A	1.37:g.151271347C>T	ENSP00000357867:p.Arg651His					PI4KB_uc001exs.3_Missense_Mutation_p.R636H|PI4KB_uc001exu.3_Missense_Mutation_p.R636H|PI4KB_uc010pcw.2_Missense_Mutation_p.R319H|PI4KB_uc001ext.3_Missense_Mutation_p.R651H	p.R663H	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	2627	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		651			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1988G>A		.	.	.	.	.	.	.	.	.	.	C	26.8	4.776801	0.90195	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060;ENST00000489889	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.95	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.957;1.0;0.995	P;D;P	0.74674	0.608;0.984;0.901	D	0.83716	0.0190	10	0.72032	D	0.01	-12.709	14.2098	0.65756	0.0:0.9282:0.0:0.0718	.	651;636;319	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	H	636;663;663;651;319;636;41;55	ENSP00000357868:R636H;ENSP00000357869:R663H;ENSP00000271657:R663H;ENSP00000357867:R651H;ENSP00000433149:R319H;ENSP00000357866:R636H;ENSP00000410974:R41H;ENSP00000432426:R55H	ENSP00000271657:R663H	R	-	2	0	PI4KB	149537971	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	5.679000	0.68160	1.542000	0.49330	-0.123000	0.14984	CGC		0.502	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		T	151271347	C	T	151271347	3	4	210	1	0	0	0	0	1	0	0	0	11874	768	27	1	514	1	PI4KB	1	151271347	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	33632502	151271347	97979274	3	14660											
HRNR	388697	broad.mit.edu	37	chr1	152188049	152188049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcctgatgcagaaccaTgttgcccatgggtagaggaa	11	9	12	9	0	0	3	0	1	0	2	1	4	1	4	3	2	3	3	3	2	3	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152188049T>G	ENST00000368801.2	-	3	6131	c.6056A>C	c.(6055-6057)cAt>cCt	p.H2019P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2019					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGAACCATGTTGCCCATG	0.552																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6055-6057)cAt>cCt		Homo sapiens hornerin (HRNR), mRNA.							458	645	582					1																	152188049		2166	4199	6365	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188049T>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6056A>C	1.37:g.152188049T>G	ENSP00000357791:p.His2019Pro						p.H2019P	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6132	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2019					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6056A>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	4.005	-0.001810	0.07819	.	.	ENSG00000197915	ENST00000368801	T	0.02656	4.21	3.47	0.9	0.19278	.	.	.	.	.	T	0.01029	0.0034	L	0.52573	1.65	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.49000	-0.8984	9	0.27785	T	0.31	.	4.6033	0.12364	0.0:0.1117:0.3848:0.5035	.	2019	Q86YZ3	HORN_HUMAN	P	2019	ENSP00000357791:H2019P	ENSP00000357791:H2019P	H	-	2	0	HRNR	150454673	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.952000	0.29149	0.056000	0.16144	0.414000	0.27820	CAT		0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152188049	T	G	152188049	3	3	210	1	0	0	0	0	1	0	0	0	7359	1464	51	5	2500	5	HRNR	1	152188049	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	916702	152188049	97062572	4	14661											
LCE5A	254910	broad.mit.edu	37	chr1	152484251	152484251	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagtccctccgacgcCgacctcagagttccagctgc	6	6	9	20	4	1	1	1	0	0	1	4	3	4	1	7	0	2	2	7	0	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152484251C>T	ENST00000334269.2	+	2	417	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	81	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677																																						uc021oyx.1																			0				lung(3)|ovary(1)|prostate(3)	7						c.(241-243)Cga>Tga		Homo sapiens late cornified envelope 5A (LCE5A), mRNA.																																				SO:0001587	stop_gained	254910				keratinization			g.chr1:152484251C>T	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"Late cornified envelopes"	16614	protein-coding gene	gene with protein product		612619	"small proline rich-like (epidermal differentiation complex) 5A"	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.241C>T	1.37:g.152484251C>T	ENSP00000333952:p.Arg81*					LCE5A_uc001ezy.3_Nonsense_Mutation_p.R81*|CRCT1_uc001ezz.3_5'Flank	p.R81*	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	241	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		81			Cys-rich.			Nonsense_Mutation	SNP	ENST00000334269.2	37	c.241C>T	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922213	0.33908	.	.	ENSG00000186207	ENST00000334269	.	.	.	5.09	-0.75	0.11080	.	.	.	.	.	.	.	.	.	.	.	0.21627	N	0.999615	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5563	7.2371	0.26076	0.6105:0.3028:0.0:0.0867	.	.	.	.	X	81	.	ENSP00000333952:R81X	R	+	1	2	LCE5A	150750875	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.465000	0.06680	0.026000	0.15269	-0.235000	0.12190	CGA		0.677	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		T	152484251	C	T	152484251	4	4	210	1	0	0	0	0	0	1	0	0	8675	644	23	2	243	2	LCE5A	1	152484251	Nonsense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	296202	152484251	96766370	5	14662											
ITLN1	55600	broad.mit.edu	37	chr1	160851913	160851913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcacgctggccaccaggGtccagccgccacccccagag	7	3	12	19	3	0	1	0	0	0	1	1	1	1	1	7	2	2	2	7	2	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:160851913G>T	ENST00000326245.3	-	4	354	c.239C>A	c.(238-240)aCc>aAc	p.T80N	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	80	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGCCACCAGGGTCCAGCCGCC	0.592																																						uc001fxc.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(238-240)aCc>aAc		Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.							77	69	72					1																	160851913		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851913G>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.239C>A	1.37:g.160851913G>T	ENSP00000323587:p.Thr80Asn						p.T80N	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	355	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		80			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.239C>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314690	0.81358	.	.	ENSG00000179914	ENST00000326245	D	0.96232	-3.95	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000005	D	0.98585	0.9527	H	0.96175	3.78	0.52099	D	0.999947	D	0.89917	1.0	D	0.87578	0.998	D	0.99457	1.0942	10	0.87932	D	0	-15.8161	14.0049	0.64456	0.0:0.0:1.0:0.0	.	80	Q8WWA0	ITLN1_HUMAN	N	80	ENSP00000323587:T80N	ENSP00000323587:T80N	T	-	2	0	ITLN1	159118537	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.826000	0.75298	2.129000	0.65627	0.655000	0.94253	ACC		0.592	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		T	160851913	G	T	160851913	3	4	210	1	0	0	0	0	1	0	0	0	7910	1261	44	5	722	5	ITLN1	1	160851913	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	8367662	160851913	88398708	6	14663											
C1orf125	126859	broad.mit.edu	37	chr1	179354443	179354443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatttcatgaacttattcGacaagtcagtgtggactgtg	11	14	10	6	1	2	1	2	1	0	0	3	4	2	2	0	1	1	0	0	1	4	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:179354443G>A	ENST00000367618.3	+	9	1199	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	AXDND1_ENST00000457238.2_Missense_Mutation_p.R271Q|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAACTTATTCGACAAGTCAGT	0.358																																						uc001gmo.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(811-813)cGa>cAa		Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.							168	161	163					1																	179354443		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179354443G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.812G>A	1.37:g.179354443G>A	ENSP00000356590:p.Arg271Gln					AXDND1_uc001gmn.2_Missense_Mutation_p.R59Q|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R229Q	p.R271Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			8	1199	+			271					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.812G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446683	0.96205	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.69040	0.69;-0.37;0.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.84465	0.5478	M	0.87097	2.86	0.42940	D	0.994341	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86766	0.1970	10	0.72032	D	0.01	-5.0E-4	17.357	0.87338	0.0:0.0:1.0:0.0	.	229;271;271	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	271;229;271;205	ENSP00000356590:R271Q;ENSP00000416712:R271Q;ENSP00000391716:R205Q	ENSP00000353471:R229Q	R	+	2	0	AXDND1	177621066	1.000000	0.71417	0.991000	0.47740	0.859000	0.49053	6.623000	0.74238	2.699000	0.92147	0.655000	0.94253	CGA		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		A	179354443	G	A	179354443	3	1	210	1	0	0	0	0	1	0	0	0	1993	1058	37	2	842	2	C1orf125	1	179354443	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18502530	179354443	69896178	7	14664											
WNT9A	7483	broad.mit.edu	37	chr1	228112065	228112065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcgtgcgtcaggccagccGaggagatggcatagaggaag	10	5	18	8	3	1	2	1	0	0	2	1	5	1	3	2	4	3	1	2	4	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:228112065G>A	ENST00000272164.5	-	3	399	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	130					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGGCCAGCCGAGGAGATGGC	0.662																																						uc001hri.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(388-390)tCg>tTg		Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.							54	57	56					1																	228112065		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228112065G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.389C>T	1.37:g.228112065G>A	ENSP00000272164:p.Ser130Leu						p.S130L	NM_003395	NP_003386	O14904	WNT9A_HUMAN			2	477	-		Prostate(94;0.0405)	130					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.389C>T	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807501	0.90623	.	.	ENSG00000143816	ENST00000272164	T	0.80033	-1.33	4.89	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	H	0.96111	3.77	0.58432	D	0.999993	D	0.76494	0.999	D	0.68943	0.961	D	0.93406	0.6764	10	0.87932	D	0	.	12.3202	0.54981	0.0822:0.0:0.9178:0.0	.	130	O14904	WNT9A_HUMAN	L	130	ENSP00000272164:S130L	ENSP00000272164:S130L	S	-	2	0	WNT9A	226178688	1.000000	0.71417	0.746000	0.31095	0.991000	0.79684	9.735000	0.98825	1.067000	0.40740	0.491000	0.48974	TCG		0.662	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		A	228112065	G	A	228112065	3	1	210	1	0	0	0	0	1	0	0	0	17395	1059	37	2	716	2	WNT9A	1	228112065	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	48757622	228112065	21138556	8	14665											
NLRP3	114548	broad.mit.edu	37	chr1	247587155	247587155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttgccgtagattaccGtaagaagtacagaaagtacg	13	11	10	7	3	1	3	0	0	1	3	1	3	1	3	2	0	4	4	2	0	7	6	rs138946894	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:247587155G>A	ENST00000336119.3	+	3	1156	c.410G>A	c.(409-411)cGt>cAt	p.R137H	NLRP3_ENST00000391828.3_Missense_Mutation_p.R137H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R137H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.R137H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R137H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R137H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	137					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTAGATTACCGTAAGAAGTAC	0.507																																						uc001icr.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(409-411)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	81	64	70		410,410,410,410,410	3.4	0.6	1	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense,missense,missense	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	29,29,29,29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	137/1037,137/980,137/980,137/1037,137/923	247587155	5,13001	2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587155G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.410G>A	1.37:g.247587155G>A	ENSP00000337383:p.Arg137His					NLRP3_uc001ics.3_Missense_Mutation_p.R137H|NLRP3_uc001icu.3_Missense_Mutation_p.R137H|NLRP3_uc001icw.3_Missense_Mutation_p.R137H|NLRP3_uc001icv.3_Missense_Mutation_p.R137H|NLRP3_uc010pyw.2_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H	p.R137H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	548	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	137					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.410G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	2.728	-0.264983	0.05754	0.0	5.81E-4	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74421	-0.75;-0.77;-0.75;-0.84;-0.77;-0.8	4.27	3.36	0.38483	.	0.360356	0.24456	N	0.038369	T	0.60702	0.2289	N	0.24115	0.695	0.09310	N	1	P;P;P;P;P	0.47962	0.587;0.903;0.83;0.901;0.624	B;P;P;B;B	0.44990	0.276;0.466;0.466;0.422;0.276	T	0.51834	-0.8655	10	0.33141	T	0.24	.	8.1468	0.31117	0.1073:0.0:0.8927:0.0	.	137;137;137;137;137	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	137	ENSP00000375704:R137H;ENSP00000355453:R137H;ENSP00000337383:R137H;ENSP00000294752:R137H;ENSP00000355452:R137H;ENSP00000375703:R137H	ENSP00000337383:R137H	R	+	2	0	NLRP3	245653778	0.000000	0.05858	0.631000	0.29282	0.056000	0.15407	-0.078000	0.11375	1.401000	0.46761	0.655000	0.94253	CGT		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587155	G	A	247587155	3	1	210	1	0	0	0	0	1	0	0	0	10478	1145	40	1	420	1	NLRP3	1	247587155	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	19475090	247587155	1663466	9	14666											
SNTG2	54221	broad.mit.edu	37	chr2	1168837	1168837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccctctttgacagcGgtttgcatctgaacggaaac	8	11	8	14	2	3	2	0	2	3	0	4	3	3	3	3	2	4	2	3	2	2	2	rs567910526		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:1168837G>A	ENST00000308624.5	+	8	688	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	187					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.G187S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTTGACAGCGGTTTGCATCT	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		18832	0		0	False		,,,				2504	0					uc002qwq.3																			1	Substitution - Missense(1)	p.G187S(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(559-561)Ggt>Agt		Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.							160	162	161					2																	1168837		1929	4127	6056	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1168837G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.559G>A	2.37:g.1168837G>A	ENSP00000311837:p.Gly187Ser					SNTG2_uc010ewi.3_Intron	p.G187S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	7	688	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	187					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.559G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673037	0.47781	.	.	ENSG00000172554	ENST00000308624	T	0.38077	1.16	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	P	0.48488	0.579	T	0.29488	-1.0010	10	0.19590	T	0.45	.	15.4969	0.75662	0.0:0.0:1.0:0.0	.	187	Q9NY99	SNTG2_HUMAN	S	187	ENSP00000311837:G187S	ENSP00000311837:G187S	G	+	1	0	SNTG2	1158837	1.000000	0.71417	0.650000	0.29550	0.185000	0.23345	6.238000	0.72350	2.151000	0.67156	0.643000	0.83706	GGT		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		A	1168837	G	A	1168837	3	1	210	1	0	0	0	0	1	0	0	0	14875	1116	39	2	589	2	SNTG2	2	1168837	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		1168837	242030536	10	14667											
ABCG5	64240	broad.mit.edu	37	chr2	44051252	44051252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccaagtttcttgtcActctcctgaaaacaaacaac	13	12	3	13	0	4	1	2	1	3	0	6	1	4	1	2	0	3	1	2	0	5	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:44051252A>G	ENST00000260645.1	-	9	1263	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_Missense_Mutation_p.V204A	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	375					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GTTTCTTGTCACTCTCCTGAA	0.433																																						uc002rtn.3																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1123-1125)gTg>gCg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.							63	68	67					2																	44051252		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051252A>G	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1124T>C	2.37:g.44051252A>G	ENSP00000260645:p.Val375Ala					ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Missense_Mutation_p.V204A|ABCG5_uc002rtp.3_5'UTR	p.V375A	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			8	1264	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	375					Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.1124T>C	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	a	13.71	2.317718	0.40996	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.71341	-0.56;-0.56	5.9	5.9	0.94986	ABC-2 type transporter (1);	0.960822	0.08619	N	0.918707	T	0.56572	0.1994	N	0.16790	0.44	0.80722	D	1	B;P	0.42456	0.253;0.78	B;B	0.40602	0.159;0.334	T	0.44967	-0.9293	10	0.31617	T	0.26	.	8.3938	0.32544	0.8543:0.0:0.1457:0.0	.	204;375	E7EX35;Q9H222	.;ABCG5_HUMAN	A	375;204	ENSP00000260645:V375A;ENSP00000384513:V204A	ENSP00000260645:V375A	V	-	2	0	ABCG5	43904756	0.998000	0.40836	0.996000	0.52242	0.992000	0.81027	3.175000	0.50855	2.252000	0.74401	0.529000	0.55759	GTG		0.433	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		G	44051252	A	G	44051252	3	3	210	1	0	0	0	0	1	0	0	0	71	159	6	4	851	4	ABCG5	2	44051252	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	42882415	44051252	199148121	11	14668											
KLRAQ1	129285	broad.mit.edu	37	chr2	48692078	48692078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatttttcttctgtagaaTatagtcagtacaacgctctg	11	17	6	7	1	4	1	1	0	3	1	4	1	4	1	0	0	2	3	0	0	7	8			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:48692078T>G	ENST00000294952.8	+	8	854	c.697T>G	c.(697-699)Tat>Gat	p.Y233D	PPP1R21_ENST00000449090.2_Missense_Mutation_p.Y233D|PPP1R21_ENST00000281394.4_Missense_Mutation_p.Y233D	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	233						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTCTGTAGAATATAGTCAGTA	0.318																																						uc002rwm.3																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(697-699)Tat>Gat		Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.							100	100	100					2																	48692078		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48692078T>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.697T>G	2.37:g.48692078T>G	ENSP00000294952:p.Tyr233Asp					PPP1R21_uc002rwi.1_Missense_Mutation_p.Y233D|PPP1R21_uc002rwj.3_Missense_Mutation_p.Y233D|PPP1R21_uc002rwl.3_Missense_Mutation_p.Y187D|PPP1R21_uc002rwk.3_Missense_Mutation_p.Y233D|PPP1R21_uc010yok.2_Missense_Mutation_p.Y233D	p.Y233D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			7	882	+			233					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.697T>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291062	0.40494	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.39	5.39	0.77823	.	0.338156	0.36234	N	0.002713	T	0.23289	0.0563	N	0.14661	0.345	0.30822	N	0.737695	B;B;B;B;B	0.23806	0.049;0.055;0.091;0.039;0.011	B;B;B;B;B	0.18871	0.023;0.009;0.021;0.023;0.014	T	0.17107	-1.0380	9	0.12103	T	0.63	-3.5908	10.8664	0.46858	0.1407:0.0:0.0:0.8593	.	233;233;233;233;233	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	D	233	.	ENSP00000281394:Y233D	Y	+	1	0	KLRAQ1	48545582	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.476000	0.60216	2.168000	0.68352	0.528000	0.53228	TAT		0.318	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		G	48692078	T	G	48692078	3	3	210	1	0	0	0	0	1	0	0	0	8413	1406	49	5	727	5	KLRAQ1	2	48692078	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	4640826	48692078	194507295	12	14669											
APLF	200558	broad.mit.edu	37	chr2	68729870	68729870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgttagatacacaCaaatccatgtttttaccagt	13	17	4	7	0	0	1	0	0	0	1	1	1	1	1	2	0	2	2	2	0	5	8			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:68729870C>G	ENST00000303795.4	+	3	347	c.176C>G	c.(175-177)aCa>aGa	p.T59R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	59	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGATACACACAAATCCATGT	0.264																																						uc002sep.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(175-177)aCa>aGa		Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.							59	59	59					2																	68729870		2203	4298	6501	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68729870C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.176C>G	2.37:g.68729870C>G	ENSP00000307004:p.Thr59Arg					APLF_uc010fdf.2_Missense_Mutation_p.T35R	p.T59R	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			2	349	+			59			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.176C>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	c	8.804	0.933522	0.18206	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	5.21	-0.169	0.13339	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.615207	0.17032	N	0.189672	T	0.10165	0.0249	L	0.28274	0.84	0.22156	N	0.999327	B;B	0.15141	0.004;0.012	B;B	0.14578	0.011;0.006	T	0.29852	-0.9998	10	0.16420	T	0.52	.	3.4454	0.07478	0.157:0.2623:0.4605:0.1202	.	59;59	F8WET0;Q8IW19	.;APLF_HUMAN	R	59	ENSP00000307004:T59R	ENSP00000307004:T59R	T	+	2	0	APLF	68583374	0.989000	0.36119	0.990000	0.47175	0.738000	0.42128	0.196000	0.17176	0.263000	0.21812	0.650000	0.86243	ACA		0.264	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		G	68729870	C	G	68729870	3	3	210	1	0	0	0	0	1	0	0	0	776	478	17	5	186	5	APLF	2	68729870	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	20037792	68729870	174469503	13	14670											
ALPPL2	251	broad.mit.edu	37	chr2	233274393	233274393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcacctggttcacggCgtgcaggagcagaccttcat	8	7	13	13	3	2	1	2	0	0	1	2	2	2	2	2	4	2	4	2	4	0	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:233274393C>T	ENST00000295453.3	+	11	1462	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	470					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGGTTCACGGCGTGCAGGAGC	0.716																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1408-1410)ggC>ggT		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						16	19	18					2																	233274393		2190	4280	6470	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274393C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1410C>T	2.37:g.233274393C>T							p.G470G	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1463	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	470					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1410C>T	CCDS2491.1																																																																																				0.716	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233274393	C	T	233274393	2	4	210	1	0	0	0	0	0	0	0	1	549	755	27	1		1	ALPPL2	2	233274393	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	164544523	233274393	9924980	14	14671											
SETD2	29072	broad.mit.edu	37	chr3	47098909	47098909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgctcaaacaacttcCggcgttcctctgtagaaagt	9	12	7	13	2	3	1	1	0	2	1	5	1	5	1	3	1	3	3	3	1	4	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:47098909C>T	ENST00000409792.3	-	15	6407	c.6365G>A	c.(6364-6366)cGg>cAg	p.R2122Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2122					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACAACTTCCGGCGTTCCTC	0.423			"N, F, S, Mis"		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6565-6567)cGg>cAg		Homo sapiens SET domain containing 2 (SETD2), mRNA.							89	89	89					3																	47098909		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098909C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6365G>A	3.37:g.47098909C>T	ENSP00000386759:p.Arg2122Gln					SETD2_uc003cqs.3_Missense_Mutation_p.R2122Q|SETD2_uc003cqt.1_Non-coding_Transcript	p.R2189Q	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6652	-		Acute lymphoblastic leukemia(5;0.0169)	2122			Low charge region.|Pro-rich.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6566G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	32	5.150000	0.94645	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23950	1.88	4.98	4.98	0.66077	.	0.000000	0.53938	D	0.000043	T	0.49440	0.1557	L	0.59436	1.845	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.48896	-0.8994	10	0.87932	D	0	.	18.7956	0.91993	0.0:1.0:0.0:0.0	.	2122;2122	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	2122	ENSP00000386759:R2122Q	ENSP00000386759:R2122Q	R	-	2	0	SETD2	47073913	1.000000	0.71417	0.976000	0.42696	0.971000	0.66376	7.250000	0.78287	2.755000	0.94549	0.655000	0.94253	CGG		0.423	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47098909	C	T	47098909	3	4	210	1	0	0	0	0	1	0	0	0	14131	652	23	2	1357	2	SETD2	3	47098909	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		47098909	150923521	15	14672											
ABHD14A	25864	broad.mit.edu	37	chr3	52014464	52014464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaggcagggcgggcagcGctgctggagcgggcgctgcg	6	3	21	11	5	0	1	0	0	0	1	0	2	0	2	0	5	4	5	0	5	0	0	rs375269081		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:52014464G>A	ENST00000273596.3	+	4	521	c.453G>A	c.(451-453)gcG>gcA	p.A151A	ACY1_ENST00000476854.1_5'Flank|ABHD14A_ENST00000491470.1_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000494103.1_5'Flank|ACY1_ENST00000458031.2_Intron|ACY1_ENST00000476351.1_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	151						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGGGCAGCGCTGCTGGAGC	0.652																																						uc003dco.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6						c.(451-453)gcG>gcA		Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	36	41	39		453	-1.1	0	3		39	0,8598		0,0,4299	no	coding-synonymous	ABHD14A	NM_015407.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		151/272	52014464	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014464G>A	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.453G>A	3.37:g.52014464G>A						ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	p.A151A	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	563	+			151					Q6UXU8|Q9Y3T7	Silent	SNP	ENST00000273596.3	37	c.453G>A	CCDS2843.1																																																																																				0.652	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		A	52014464	G	A	52014464	2	1	210	1	0	0	0	0	0	0	0	1	79	1074	38	1		1	ABHD14A	3	52014464	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	4915555	52014464	146007966	16	14673											
CACNA2D3	55799	broad.mit.edu	37	chr3	55107854	55107854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagaagatcagaaggCgcccagaatcttgtcatggc	12	6	12	11	1	3	4	2	0	1	4	3	4	3	4	2	3	0	0	2	3	3	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:55107854C>T	ENST00000474759.1	+	37	3199	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1051C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R957C|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1051C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1051						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GATCAGAAGGCGCCCAGAATC	0.448																																						uc003dhf.3																			0		p.R1051K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(3151-3153)Cgc>Tgc		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.							82	82	82					3																	55107854		1907	4124	6031	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55107854C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3151C>T	3.37:g.55107854C>T	ENSP00000419101:p.Arg1051Cys						p.R1051C	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	36	3199	+			1051					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.3151C>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807877	0.70797	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	4.94	0.65067	.	0.061993	0.64402	D	0.000004	D	0.83069	0.5174	M	0.80508	2.5	0.53688	D	0.999977	D	0.89917	1.0	D	0.67725	0.953	D	0.85338	0.1094	10	0.72032	D	0.01	.	12.9679	0.58494	0.0:0.9257:0.0:0.0743	.	1051	Q8IZS8	CA2D3_HUMAN	C	1051;1051;1051;957;958	ENSP00000389506:R1051C;ENSP00000419101:R1051C;ENSP00000288197:R1051C;ENSP00000417279:R957C	ENSP00000288197:R1051C	R	+	1	0	CACNA2D3	55082894	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.633000	0.54295	1.463000	0.47967	0.637000	0.83480	CGC		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			T	55107854	C	T	55107854	3	4	210	1	0	0	0	0	1	0	0	0	2550	768	27	1	3297	1	CACNA2D3	3	55107854	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3093390	55107854	142914576	17	14674											
SENP7	57337	broad.mit.edu	37	chr3	101136587	101136587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagggtctttctgaattttCgtcctaaatccgtccatagg	8	15	9	9	2	2	1	0	1	2	0	6	1	5	1	3	2	0	1	3	2	5	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:101136587C>T	ENST00000394095.2	-	5	385	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.R78Q|SENP7_ENST00000394094.2_Missense_Mutation_p.R111Q|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	111						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTGAATTTTCGTCCTAAATC	0.378																																						uc003dut.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(331-333)cGa>cAa		Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.							148	144	145					3																	101136587		1892	4110	6002	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101136587C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.332G>A	3.37:g.101136587C>T	ENSP00000377655:p.Arg111Gln					SENP7_uc003duu.3_Missense_Mutation_p.R111Q|SENP7_uc003duv.3_Missense_Mutation_p.R78Q|SENP7_uc003duw.3_Intron|SENP7_uc003dux.3_Intron	p.R111Q	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			4	443	-			111					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.332G>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	31	5.060561	0.93846	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000076	T	0.79173	0.4401	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78214	-0.2291	10	0.49607	T	0.09	-8.2237	17.9847	0.89152	0.0:1.0:0.0:0.0	.	78;111	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	Q	111;111;78	ENSP00000377655:R111Q;ENSP00000377654:R111Q;ENSP00000342159:R78Q	ENSP00000342159:R78Q	R	-	2	0	SENP7	102619277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.178000	0.50879	2.754000	0.94517	0.650000	0.86243	CGA		0.378	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		T	101136587	C	T	101136587	3	4	210	1	0	0	0	0	1	0	0	0	14051	884	31	2	2900	2	SENP7	3	101136587	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	46028733	101136587	96885843	18	14675											
ANKRD56	345079	broad.mit.edu	37	chr4	77817817	77817817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctcctggtccacaaagtCatccagatcttggagggaca	11	9	9	12	0	3	1	1	0	2	1	6	3	5	3	3	3	0	0	3	3	1	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:77817817C>T	ENST00000334306.2	-	1	1185	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	396																	TCCACAAAGTCATCCAGATCT	0.572																																						uc003hki.3																			0											c.(1186-1188)Gac>Aac		Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.							71	76	74					4																	77817817		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817817C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1186G>A	4.37:g.77817817C>T	ENSP00000334879:p.Asp396Asn						p.D396N	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			0	1186	-			396					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1186G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808167	0.31961	.	.	ENSG00000186212	ENST00000334306	T	0.09073	3.02	4.77	3.84	0.44239	.	0.179466	0.26677	U	0.023066	T	0.04952	0.0133	N	0.17082	0.46	0.30001	N	0.816025	B	0.32829	0.386	B	0.24269	0.052	T	0.17961	-1.0352	10	0.34782	T	0.22	-10.3007	12.0655	0.53586	0.0:0.9022:0.0:0.0978	.	396	A6NEL2	ANR56_HUMAN	N	396	ENSP00000334879:D396N	ENSP00000334879:D396N	D	-	1	0	ANKRD56	78036841	0.973000	0.33851	0.998000	0.56505	0.333000	0.28666	2.337000	0.43947	2.469000	0.83416	0.655000	0.94253	GAC		0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		T	77817817	C	T	77817817	3	4	210	1	0	0	0	0	1	0	0	0	682	826	29	3	1199	3	ANKRD56	4	77817817	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		77817817	113336459	19	14676											
MMRN1	22915	broad.mit.edu	37	chr4	90857233	90857233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatataactttgttttgcAagtcgccaagacccttgcag	11	12	9	9	1	0	2	0	0	0	2	1	3	0	2	2	0	3	3	2	0	4	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:90857233A>C	ENST00000394980.1	+	7	2721	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.Q543P|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q801P			Q13201	MMRN1_HUMAN	multimerin 1	801					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTTTTGCAAGTCGCCAAG	0.378																																						uc003hst.3																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2401-2403)cAa>cCa		Homo sapiens multimerin 1 (MMRN1), mRNA.							47	48	48					4																	90857233		2203	4297	6500	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857233A>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2402A>C	4.37:g.90857233A>C	ENSP00000378431:p.Gln801Pro					MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.Q543P	p.Q801P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	2473	+		Hepatocellular(203;0.114)	801					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2402A>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453890	0.26161	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68903	-0.05;-0.05;-0.36	5.07	5.07	0.68467	.	0.428024	0.24289	N	0.039830	T	0.75087	0.3802	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.78018	-0.2368	10	0.62326	D	0.03	.	15.5472	0.76112	1.0:0.0:0.0:0.0	.	801	Q13201	MMRN1_HUMAN	P	801;801;543	ENSP00000378431:Q801P;ENSP00000264790:Q801P;ENSP00000426461:Q543P	ENSP00000264790:Q801P	Q	+	2	0	MMRN1	91076256	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	5.989000	0.70587	2.212000	0.71576	0.528000	0.53228	CAA		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		C	90857233	A	C	90857233	3	2	210	1	0	0	0	0	1	0	0	0	9670	130	5	5	2424	5	MMRN1	4	90857233	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	13039416	90857233	100297043	20	14677											
PCDHA1	56147	broad.mit.edu	37	chr5	140167729	140167729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcagcaggcggcgcGcgcatcccgttccgcgtggg	4	4	17	16	8	0	0	0	0	0	0	2	0	2	0	3	4	2	4	3	4	0	1	rs543937372		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140167729G>A	ENST00000504120.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A618A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGGCGCGCGCATCCCGT	0.667																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1852-1854)gcG>gcA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							69	73	72					5																	140167729		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167729G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1854G>A	5.37:g.140167729G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A618A	p.A618A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1854	+			629			Cadherin 6.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1854G>A	CCDS54913.1																																																																																				0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167729	G	A	140167729	2	1	210	1	0	0	0	0	0	0	0	1	11519	1074	38	1		1	PCDHA1	5	140167729	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08		140167729	40747531	21	14678											
PCDHB12	56124	broad.mit.edu	37	chr5	140590288	140590288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	8	6	12	15	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140590288G>A	ENST00000239450.2	+	1	1998	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	PCDHB12_ENST00000541609.1_Silent_p.S266S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721																																						uc003liz.3																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1807-1809)tcG>tcA		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							25	26	26					5																	140590288		2157	4207	6364	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590288G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1809G>A	5.37:g.140590288G>A						PCDHB12_uc011dak.2_Silent_p.S266S	p.S603S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1998	+			603			Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1809G>A	CCDS4254.1																																																																																				0.721	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		A	140590288	G	A	140590288	2	1	210	1	0	0	0	0	0	0	0	1	11537	1132	40	1		1	PCDHB12	5	140590288	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	422559	140590288	40324972	22	14679											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736435	140736435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgctggaccagaaCgacaatgtccctgagatcct	9	11	9	12	1	1	2	0	1	1	2	3	5	3	3	3	1	2	1	3	1	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140736435C>T	ENST00000571252.1	+	1	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATGTCC	0.577																																						uc003ljq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1666-1668)aaC>aaT		Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.							200	210	207					5																	140736435		2200	4300	6500	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736435C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1668C>T	5.37:g.140736435C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.N556N	p.N556N	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1668	+			558			Cadherin 5.		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.1668C>T	CCDS58979.1																																																																																				0.577	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140736435	C	T	140736435	2	4	210	1	0	0	0	0	0	0	0	1	11556	535	19	1		1	PCDHGA4	5	140736435	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	146147	140736435	40178825	23	14680											
NOTCH4	4855	broad.mit.edu	37	chr6	32172007	32172007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagggctggtccagacactCgtccacgtctccctcacagc	7	7	10	17	2	2	1	1	0	1	1	6	1	4	1	3	2	1	2	3	2	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:32172007C>T	ENST00000375023.3	-	19	3163	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1009	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCAGACACTCGTCCACGTCT	0.612																																						uc003obb.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3025-3027)Gag>Aag		Homo sapiens notch 4 (NOTCH4), mRNA.							83	62	70					6																	32172007		1510	2708	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32172007C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3025G>A	6.37:g.32172007C>T	ENSP00000364163:p.Glu1009Lys					NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	p.E1009K	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			18	3164	-			1009			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3025G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174987	0.94807	.	.	ENSG00000204301	ENST00000375023	D	0.87412	-2.25	4.77	4.77	0.60923	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000344	D	0.93831	0.8027	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.94957	0.8105	9	.	.	.	.	15.335	0.74244	0.0:1.0:0.0:0.0	.	1009	Q99466	NOTC4_HUMAN	K	1009	ENSP00000364163:E1009K	.	E	-	1	0	NOTCH4	32279985	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	7.048000	0.76606	2.488000	0.83962	0.561000	0.74099	GAG		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32172007	C	T	32172007	3	4	210	1	0	0	0	0	1	0	0	0	10551	893	31	2	3034	2	NOTCH4	6	32172007	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		32172007	138943060	24	14681											
QKI	9444	broad.mit.edu	37	chr6	163899821	163899821	+	Frame_Shift_Del	DEL	G	G	-																															ttttttctcagtttaattttGttgggagaatccttggacct																										TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:163899821delG	ENST00000361752.3	+	3	846	c.295delG	c.(295-297)gttfs	p.V99fs	QKI_ENST00000424802.3_Frame_Shift_Del_p.V99fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.V99fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.V99fs|QKI_ENST00000392127.2_Frame_Shift_Del_p.V99fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.V99fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	99	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GTTTAATTTTGTTGGGAGAAT	0.358																																						uc003qui.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(295-297)gttfs		Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.							58	60	60					6																	163899821		2203	4300	6503	SO:0001589	frameshift_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899821delG	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.295delG	6.37:g.163899821delG	ENSP00000355094:p.Val99fs					QKI_uc003quj.3_Frame_Shift_Del_p.V99fs|QKI_uc003quh.3_Frame_Shift_Del_p.V99fs|QKI_uc003que.3_Frame_Shift_Del_p.V99fs|QKI_uc003quf.3_Frame_Shift_Del_p.V99fs|QKI_uc003qug.3_Frame_Shift_Del_p.V99fs	p.V99fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	2	846	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	99			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	ENST00000361752.3	37	c.295delG	CCDS5285.1																																																																																				0.358	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		-	163899821	G	-	163899821	7	5	210	1	0	1	0	1	0	0	0	0	12873	1377	48	0	305	0	QKI	6	163899821	Frame_Shift_Del	DEL	G	TCGA-28-5208-01A-01D-1486-08	131727814	163899821	7215246	25	14682											
ANLN	54443	broad.mit.edu	37	chr7	36459856	36459856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaccaggaaaattccaaAgaactcgtgtccctcgagct	15	7	7	12	2	0	1	0	0	0	1	4	3	2	2	3	1	3	1	3	1	6	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:36459856A>G	ENST00000265748.2	+	11	2169	c.1948A>G	c.(1948-1950)Aga>Gga	p.R650G	ANLN_ENST00000396068.2_Missense_Mutation_p.R613G	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	650	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAATTCCAAAGAACTCGTGT	0.433																																						uc003tff.3																			0		p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1948-1950)Aga>Gga		Homo sapiens anillin, actin binding protein (ANLN), mRNA.							112	108	110					7																	36459856		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36459856A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1948A>G	7.37:g.36459856A>G	ENSP00000265748:p.Arg650Gly					ANLN_uc011kaz.2_Missense_Mutation_p.R562G|ANLN_uc003tfg.3_Missense_Mutation_p.R613G|ANLN_uc010kxe.3_Missense_Mutation_p.R612G	p.R650G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			10	2152	+			650			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1948A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.610668	0.87258	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.15718	2.4;2.47	5.84	5.84	0.93424	.	0.038966	0.85682	D	0.000000	T	0.37812	0.1017	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	P;P;D;D	0.68353	0.907;0.907;0.957;0.948	T	0.08493	-1.0719	10	0.66056	D	0.02	-26.9293	14.7869	0.69810	1.0:0.0:0.0:0.0	.	527;612;613;650	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	G	650;613	ENSP00000265748:R650G;ENSP00000379380:R613G	ENSP00000265748:R650G	R	+	1	2	ANLN	36426381	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	4.066000	0.57520	2.243000	0.73865	0.533000	0.62120	AGA		0.433	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		G	36459856	A	G	36459856	3	3	210	1	0	0	0	0	1	0	0	0	694	64	3	4	1990	4	ANLN	7	36459856	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		36459856	122678807	26	14683											
CACNA2D1	781	broad.mit.edu	37	chr7	81799924	81799924	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgcttccaatgccaggCgctgaaaaacaaacaataaa	16	7	6	12	2	1	1	0	1	1	0	3	1	2	1	3	1	3	2	3	1	7	2	rs562957992		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:81799924C>T	ENST00000356253.5	-	4	551	c.296G>A	c.(295-297)cGc>cAc	p.R99H	CACNA2D1_ENST00000423588.1_Splice_Site_p.R99H|CACNA2D1_ENST00000356860.3_Splice_Site_p.R99H			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	99				R -> S (in Ref. 1; AAA51903). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAATGCCAGGCGCTGAAAAAC	0.348																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e4-1		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						148	158	155					7																	81799924		2203	4300	6503	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81799924C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.295-1G>A	7.37:g.81799924C>T							p.R99_splice	NM_000722	NP_000713	P54289	CA2D1_HUMAN			4	551	-			99	R -> S (in Ref. 1; AAA51903).				Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.295_splice		.	.	.	.	.	.	.	.	.	.	C	16.53	3.149413	0.57151	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.26067	3.08;3.07;1.76	6.03	6.03	0.97812	.	0.069805	0.56097	D	0.000022	T	0.15696	0.0378	N	0.12471	0.22	0.80722	D	1	B	0.27351	0.176	B	0.23716	0.048	T	0.06285	-1.0835	10	0.44086	T	0.13	-8.574	12.9692	0.58503	0.0:0.9264:0.0:0.0736	.	99	P54289-2	.	H	99	ENSP00000349320:R99H;ENSP00000348589:R99H;ENSP00000405395:R99H	ENSP00000284088:R99H	R	-	2	0	CACNA2D1	81637860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.979000	0.29500	2.861000	0.98227	0.655000	0.94253	CGC		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	T	81799924	C	T	81799924	5	4	210	1	0	0	0	0	0	0	1	0	2548	782	27	1	3123	1	CACNA2D1	7	81799924	Splice_Site	SNP	C	TCGA-28-5208-01A-01D-1486-08	45340068	81799924	77338739	27	14684											
PCLO	27445	broad.mit.edu	37	chr7	82784341	82784341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctaggctgttgagctgagGgttttgctgagccaggctgt	5	12	17	7	0	0	3	0	3	0	0	0	3	0	3	1	4	3	7	1	4	1	4	rs527289787		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:82784341G>T	ENST00000333891.9	-	2	1953	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H	PCLO_ENST00000423517.2_Missense_Mutation_p.P539H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGAGGGTTTTGCTGA	0.547																																						uc003uhx.2																			0		p.P539P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1615-1617)cCc>cAc		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							218	223	222					7																	82784341		1990	4180	6170	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784341G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1616C>A	7.37:g.82784341G>T	ENSP00000334319:p.Pro539His					PCLO_uc003uhv.2_Missense_Mutation_p.P539H	p.P539H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1905	-			485			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1616C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	g	14.11	2.438981	0.43326	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19105	2.17;2.17	4.75	4.75	0.60458	.	.	.	.	.	T	0.40015	0.1100	L	0.49778	1.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63192	0.912;0.912	T	0.31696	-0.9934	9	0.87932	D	0	.	17.7462	0.88421	0.0:0.0:1.0:0.0	.	539;539	Q9Y6V0-5;Q9Y6V0-6	.;.	H	485;539;539	ENSP00000334319:P539H;ENSP00000388393:P539H	ENSP00000334319:P539H	P	-	2	0	PCLO	82622277	0.024000	0.19004	0.120000	0.21714	0.907000	0.53573	0.835000	0.27531	2.181000	0.69327	0.603000	0.83216	CCC		0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82784341	G	T	82784341	3	4	210	1	0	0	0	0	1	0	0	0	11583	1232	43	5	13925	5	PCLO	7	82784341	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	984417	82784341	76354322	28	14685											
SAMD9L	219285	broad.mit.edu	37	chr7	92763758	92763758	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtggttctagaggtttAtatgtctcgcttttcaggtc	8	17	10	6	1	3	1	1	0	2	1	5	1	3	1	0	3	0	3	0	3	4	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:92763758A>C	ENST00000318238.4	-	5	2743	c.1527T>G	c.(1525-1527)taT>taG	p.Y509*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Y509*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Y509*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	509					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGAGGTTTATATGTCTCGC	0.378																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1525-1527)taT>taG		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							82	86	85					7																	92763758		2203	4300	6503	SO:0001587	stop_gained	219285							g.chr7:92763758A>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1527T>G	7.37:g.92763758A>C	ENSP00000326247:p.Tyr509*					SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.Y509*	p.Y509*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	2743	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		509					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.1527T>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	44	10.948800	0.99493	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.37	-0.751	0.11076	.	1.109450	0.07046	N	0.831094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2167	5.6811	0.17776	0.4937:0.0:0.3759:0.1304	.	.	.	.	X	509	.	ENSP00000326247:Y509X	Y	-	3	2	SAMD9L	92601694	0.052000	0.20516	0.034000	0.17996	0.275000	0.26752	-0.347000	0.07750	-0.032000	0.13758	0.377000	0.23210	TAT		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92763758	A	C	92763758	4	2	210	1	0	0	0	0	0	1	0	0	13827	456	16	5	3231	5	SAMD9L	7	92763758	Nonsense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	9979417	92763758	66374905	29	14686											
TPD52L3	89882	broad.mit.edu	37	chr9	6328761	6328761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagcagccaaagagagaCgctgtggggaactcaagagg	14	5	14	8	1	1	3	1	0	0	3	1	5	1	4	1	3	4	2	1	3	5	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:6328761C>T	ENST00000344545.5	+	1	413	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TPD52L3_ENST00000314556.3_Missense_Mutation_p.R56C|TPD52L3_ENST00000381428.1_Missense_Mutation_p.R56C	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	56								p.R56C(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CAAAGAGAGACGCTGTGGGGA	0.512																																						uc003zjw.3																			2	Substitution - Missense(2)	p.R56C(3)|p.R56L(1)	lung(2)	large_intestine(1)|lung(9)|skin(1)	11						c.(166-168)Cgc>Tgc		Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.							106	91	96					9																	6328761		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328761C>T	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.166C>T	9.37:g.6328761C>T	ENSP00000341677:p.Arg56Cys					TPD52L3_uc003zjv.3_Missense_Mutation_p.R56C|TPD52L3_uc003zjx.2_Missense_Mutation_p.R56C	p.R56C	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	0	413	+		Acute lymphoblastic leukemia(23;0.158)	56					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.166C>T	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333424	0.24167	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.25749	1.78;1.78;1.78	4.88	3.04	0.35103	.	0.278041	0.34507	N	0.003908	T	0.21227	0.0511	L	0.52126	1.63	0.09310	N	0.999998	B;B;B	0.32573	0.085;0.376;0.325	B;B;B	0.30572	0.02;0.117;0.105	T	0.16630	-1.0396	10	0.62326	D	0.03	-9.6097	7.6257	0.28210	0.0:0.8087:0.0:0.1913	.	56;56;56	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	C	56	ENSP00000341677:R56C;ENSP00000370836:R56C;ENSP00000318665:R56C	ENSP00000318665:R56C	R	+	1	0	TPD52L3	6318761	0.716000	0.27956	0.012000	0.15200	0.397000	0.30659	1.935000	0.40173	0.796000	0.33947	0.511000	0.50034	CGC		0.512	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		T	6328761	C	T	6328761	3	4	210	1	0	0	0	0	1	0	0	0	16397	536	19	1	168	1	TPD52L3	9	6328761	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		6328761	134884670	30	14687											
TMEM215	401498	broad.mit.edu	37	chr9	32784670	32784670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgtccagatacctggaCggctactgcccctcgggcag	8	6	13	14	3	0	2	0	0	0	2	2	4	1	3	4	3	3	2	4	3	2	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:32784670C>T	ENST00000342743.5	+	2	854	c.489C>T	c.(487-489)gaC>gaT	p.D163D		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	163						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GATACCTGGACGGCTACTGCC	0.602																																						uc022bfh.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(487-489)gaC>gaT		Homo sapiens transmembrane protein 215 (TMEM215), mRNA.							49	46	47					9																	32784670		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784670C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.489C>T	9.37:g.32784670C>T						TMEM215_uc003zri.4_Silent_p.D163D	p.D163D	NM_212558	NP_997723	Q68D42	TM215_HUMAN			0	489	+			163					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.489C>T	CCDS6530.1																																																																																				0.602	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		T	32784670	C	T	32784670	2	4	210	1	0	0	0	0	0	0	0	1	16135	535	19	1		1	TMEM215	9	32784670	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	26455909	32784670	108428761	31	14688											
TRPM6	140803	broad.mit.edu	37	chr9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttctagtgtagttgctgCgatatgctctaccaatgagg	8	15	11	7	1	2	1	0	1	2	0	2	2	2	1	1	1	4	5	1	1	5	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:77423011C>T	ENST00000360774.1	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388																																						uc004ajl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1576-1578)cGc>cAc		Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.							256	243	247					9																	77423011		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77423011C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1577G>A	9.37:g.77423011C>T	ENSP00000354006:p.Arg526His					TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc022bib.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	p.R526H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			13	1815	-			526					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1577G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924348	0.92319	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.75704	-0.96;-0.96;0.42;-0.96;-0.96;-0.96	5.74	5.74	0.90152	.	0.155279	0.64402	D	0.000012	D	0.84365	0.5456	M	0.73372	2.23	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.68765	0.917;0.96;0.805	D	0.85613	0.1259	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.9285:0.0:0.0715	.	526;526;521	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	526;526;526;521;521;526;189;189	ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H	ENSP00000309693:R189H	R	-	2	0	TRPM6	76612831	0.999000	0.42202	0.995000	0.50966	0.988000	0.76386	4.079000	0.57613	2.715000	0.92844	0.655000	0.94253	CGC		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77423011	C	T	77423011	3	4	210	1	0	0	0	0	1	0	0	0	16587	768	27	1	4595	1	TRPM6	9	77423011	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	44638341	77423011	63790420	32	14689											
FGD3	89846	broad.mit.edu	37	chr9	95792189	95792189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatcctctaagaccagaCgtgacaaggagaagcagagc	16	5	10	10	1	1	5	0	1	1	4	2	6	2	5	2	1	3	1	2	1	5	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:95792189C>T	ENST00000375482.3	+	15	2087	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	FGD3_ENST00000538555.1_Missense_Mutation_p.R134C|FGD3_ENST00000337352.6_Missense_Mutation_p.R531C|FGD3_ENST00000416701.2_Missense_Mutation_p.R531C	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	531					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TAAGACCAGACGTGACAAGGA	0.537																																						uc004asz.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1591-1593)Cgt>Tgt		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.							104	109	108					9																	95792189		2089	4225	6314	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95792189C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1591C>T	9.37:g.95792189C>T	ENSP00000364631:p.Arg531Cys					FGD3_uc004asw.2_Missense_Mutation_p.R531C|FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	p.R531C	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN			14	2119	+			531					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1591C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748772	0.69533	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.64	3.68	0.42216	Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33075	N	0.005303	D	0.83055	0.5171	M	0.80183	2.485	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.85404	0.1133	10	0.87932	D	0	.	12.5037	0.55970	0.1668:0.8332:0.0:0.0	.	531;531	F8W7P2;Q5JSP0	.;FGD3_HUMAN	C	531;531;531;134	ENSP00000364631:R531C;ENSP00000413833:R531C;ENSP00000336914:R531C;ENSP00000442560:R134C	ENSP00000336914:R531C	R	+	1	0	FGD3	94832010	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	2.197000	0.42696	2.314000	0.78098	0.561000	0.74099	CGT		0.537	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		T	95792189	C	T	95792189	3	4	210	1	0	0	0	0	1	0	0	0	5834	536	19	1	1641	1	FGD3	9	95792189	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	18369178	95792189	45421242	33	14690											
ODF3	113746	broad.mit.edu	37	chr11	197577	197577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcatgaagcacacGcccaccaagctgcgtgcacc	11	5	9	16	2	1	1	1	1	0	0	1	1	1	1	3	1	4	4	3	1	2	1	rs374039790		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:197577G>A	ENST00000325113.4	+	3	443	c.126G>A	c.(124-126)acG>acA	p.T42T	ODF3_ENST00000342593.5_Silent_p.T42T|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.T42T	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	42					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)		p.T42T(1)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAAGCACACGCCCACCAAGC	0.652																																						uc001lob.3																			1	Substitution - coding silent(1)	p.T42T(2)	ovary(1)	biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9						c.(124-126)acG>acA		Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.		G		0,4406		0,0,2203	39	38	38		126	-10	0.6	11		38	1,8599		0,1,4299	no	coding-synonymous	ODF3	NM_053280.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		42/255	197577	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113746				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		g.chr11:197577G>A	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.126G>A	11.37:g.197577G>A						ODF3_uc010qvk.2_Silent_p.T42T|ODF3_uc001loc.3_Silent_p.T42T	p.T42T	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	420	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	42					B7ZLT0|Q69YX0	Silent	SNP	ENST00000325113.4	37	c.126G>A	CCDS7688.1																																																																																				0.652	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1			A	197577	G	A	197577	2	1	210	1	0	0	0	0	0	0	0	1	10829	1074	38	1		1	ODF3	11	197577	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08		197577	134808939	34	14691											
APBB1	322	broad.mit.edu	37	chr11	6423823	6423823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccccccagcccccagAcatggggtcatgcaggttgt	7	9	10	15	0	1	1	1	0	0	1	2	1	2	1	5	3	3	2	5	3	1	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:6423823A>G	ENST00000609360.1	-	7	1336	c.1237T>C	c.(1237-1239)Tct>Cct	p.S413P	APBB1_ENST00000608394.1_Missense_Mutation_p.S154P|APBB1_ENST00000389906.2_Missense_Mutation_p.S413P|APBB1_ENST00000608655.1_Missense_Mutation_p.S193P|APBB1_ENST00000608704.1_Missense_Mutation_p.S154P|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000609331.1_Missense_Mutation_p.S178P|APBB1_ENST00000299402.6_Missense_Mutation_p.S413P|APBB1_ENST00000608645.1_Missense_Mutation_p.S154P|APBB1_ENST00000530885.1_Missense_Mutation_p.S193P|APBB1_ENST00000311051.3_Missense_Mutation_p.S413P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	413	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCCCCCAGACATGGGGTCA	0.582																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1237-1239)Tct>Cct		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.							67	69	68					11																	6423823		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423823A>G	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1237T>C	11.37:g.6423823A>G	ENSP00000477213:p.Ser413Pro					APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	p.S413P	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	6	1337	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	413			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1237T>C		.	.	.	.	.	.	.	.	.	.	A	14.29	2.491692	0.44249	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	4.5	0.728	0.18260	.	0.535464	0.18664	N	0.134659	T	0.06416	0.0165	N	0.02539	-0.55	0.27785	N	0.943027	B;B;B;P	0.41524	0.333;0.089;0.386;0.753	B;B;B;B	0.38985	0.2;0.05;0.123;0.287	T	0.24190	-1.0167	10	0.22109	T	0.4	-3.8256	4.8281	0.13427	0.5185:0.379:0.1024:0.0	.	262;178;193;413	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	P	413;413;413;262;154;178;193;154	ENSP00000299402:S413P;ENSP00000311912:S413P;ENSP00000374556:S413P;ENSP00000433338:S193P;ENSP00000437114:S154P	ENSP00000299402:S413P	S	-	1	0	APBB1	6380399	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.272000	0.18644	0.280000	0.22209	0.482000	0.46254	TCT		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		G	6423823	A	G	6423823	3	3	210	1	0	0	0	0	1	0	0	0	759	275	10	4	927	4	APBB1	11	6423823	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	6226246	6423823	128582693	35	14692											
OR5D16	390144	broad.mit.edu	37	chr11	55606713	55606713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttccctgacactcgcGtgctctgctttaaagttatc	7	14	8	12	2	1	1	0	1	1	0	4	1	2	1	1	0	2	5	1	0	3	4	rs201981572		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55606713G>A	ENST00000378396.1	+	1	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													-|||	1	0.000199681	0	0	5008	,	,		19905	0		0.001	False		,,,				2504	0					uc010rio.2																			0		p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(484-486)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							155	139	144					11																	55606713		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606713G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.486G>A	11.37:g.55606713G>A							p.A162A	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	486	+		all_epithelial(135;0.208)	162					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.486G>A	CCDS31512.1																																																																																				0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606713	G	A	55606713	2	1	210	1	0	0	0	0	0	0	0	1	11156	1132	40	1		1	OR5D16	11	55606713	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	49182890	55606713	79399803	36	14693											
OR8H3	390152	broad.mit.edu	37	chr11	55890211	55890211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcaatggcctatgaTcgctatgcagcgatctgcag	8	11	9	13	2	3	1	1	1	2	0	5	2	3	1	2	1	3	3	2	1	3	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55890211T>G	ENST00000313472.3	+	1	363	c.363T>G	c.(361-363)gaT>gaG	p.D121E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCCTATGATCGCTATGCAG	0.468																																						uc001nii.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(361-363)gaT>gaG		Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.							225	211	216					11																	55890211		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890211T>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.363T>G	11.37:g.55890211T>G	ENSP00000323928:p.Asp121Glu						p.D121E	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			0	363	+	Esophageal squamous(21;0.00693)		121					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.363T>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718023	0.48622	.	.	ENSG00000181761	ENST00000313472	T	0.17691	2.26	3.44	-3.24	0.05094	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.55000	0.1893	H	0.99590	4.645	0.26865	N	0.967878	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.87932	D	0	.	11.3975	0.49851	0.0:0.6924:0.0:0.3076	.	121	Q8N146	OR8H3_HUMAN	E	121	ENSP00000323928:D121E	ENSP00000323928:D121E	D	+	3	2	OR8H3	55646787	0.009000	0.17119	0.723000	0.30687	0.411000	0.31082	-0.985000	0.03751	-0.579000	0.05952	0.145000	0.16022	GAT		0.468	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		G	55890211	T	G	55890211	3	3	210	1	0	0	0	0	1	0	0	0	11239	1432	50	5	365	5	OR8H3	11	55890211	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	283498	55890211	79116305	37	14694											
TCN1	6947	broad.mit.edu	37	chr11	59630133	59630133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatattaagttttcctcagCgttacgacatactcccaaag	13	13	5	10	2	1	0	1	0	0	0	3	1	3	0	2	0	3	2	2	0	6	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:59630133C>T	ENST00000257264.3	-	3	426	c.322G>A	c.(322-324)Gct>Act	p.A108T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	108	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.A108S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCCTCAGCGTTACGACAT	0.358																																						uc001noj.2																			1	Substitution - Missense(1)	p.A108S(2)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(322-324)Gct>Act		Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						140	134	136					11																	59630133		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630133C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.322G>A	11.37:g.59630133C>T	ENSP00000257264:p.Ala108Thr						p.A108T	NM_001062	NP_001053	P20061	TCO1_HUMAN			2	420	-		all_epithelial(135;0.198)	108					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.322G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657396	0.29425	.	.	ENSG00000134827	ENST00000257264	T	0.35236	1.32	5.12	-2.42	0.06542	.	0.786233	0.11025	N	0.607951	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16364	-1.0405	10	0.39692	T	0.17	.	1.0605	0.01600	0.2527:0.1231:0.375:0.2492	.	108	P20061	TCO1_HUMAN	T	108	ENSP00000257264:A108T	ENSP00000257264:A108T	A	-	1	0	TCN1	59386709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.273000	0.08548	-0.325000	0.08577	-0.134000	0.14843	GCT		0.358	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		T	59630133	C	T	59630133	3	4	210	1	0	0	0	0	1	0	0	0	15703	768	27	1	1007	1	TCN1	11	59630133	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3739922	59630133	75376383	38	14695											
AHNAK	79026	broad.mit.edu	37	chr11	62284308	62284308	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagaagaggaggacagtcGggacttcttagaggccaggg	11	6	17	7	1	1	3	0	0	1	3	2	6	1	6	1	5	0	1	1	5	3	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:62284308G>A	ENST00000378024.4	-	5	17855	c.17581C>T	c.(17581-17583)Cga>Tga	p.R5861*	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5861					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGACAGTCGGGACTTCTTA	0.522																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17581-17583)Cga>Tga		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							177	160	166					11																	62284308		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62284308G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17581C>T	11.37:g.62284308G>A	ENSP00000367263:p.Arg5861*					AHNAK_uc001ntk.1_Intron	p.R5861*	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	17881	-		Melanoma(852;0.155)	5861					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.17581C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	57	30.039709	0.99976	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.77	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8311	13.6094	0.62068	0.0:0.0:0.7462:0.2538	.	.	.	.	X	5861	.	ENSP00000367263:R5861X	R	-	1	2	AHNAK	62040884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.793000	0.47845	2.185000	0.69588	0.549000	0.68633	CGA		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62284308	G	A	62284308	4	1	210	1	0	0	0	0	0	1	0	0	414	1124	39	2	211	2	AHNAK	11	62284308	Nonsense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	2654175	62284308	72722208	39	14696											
TECTA	7007	broad.mit.edu	37	chr11	120983846	120983846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccctcttcaattattaCgaaatcaactggaccacggg	12	11	6	12	2	4	0	3	0	1	0	4	2	4	1	2	2	2	0	2	2	5	4	rs148364865		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:120983846C>T	ENST00000392793.1	+	5	823	c.552C>T	c.(550-552)taC>taT	p.Y184Y	TECTA_ENST00000264037.2_Silent_p.Y184Y			O75443	TECTA_HUMAN	tectorin alpha	184	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAATTATTACGAAATCAACT	0.567											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	8e-04	0	5008	,	,		18575	0		0	False		,,,				2504	0					uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(550-552)taC>taT		Homo sapiens tectorin alpha (TECTA), mRNA.		C		6,4400	12.9+/-30.5	0,6,2197	99	87	91		552	-4.1	0.9	11	dbSNP_134	91	0,8598		0,0,4299	no	coding-synonymous	TECTA	NM_005422.2		0,6,6496	TT,TC,CC		0.0,0.1362,0.0461		184/2156	120983846	6,12998	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983846C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.552C>T	11.37:g.120983846C>T			OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508		p.Y184Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	3	552	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	184			NIDO.			Silent	SNP	ENST00000392793.1	37	c.552C>T	CCDS8434.1																																																																																				0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	120983846	C	T	120983846	2	4	210	1	0	0	0	0	0	0	0	1	15744	547	19	1		1	TECTA	11	120983846	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	58699538	120983846	14022670	40	14697											
OR4D5	219875	broad.mit.edu	37	chr11	123811110	123811110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtctatacaaggccttttCggacattccccatggacaag	11	10	8	12	2	1	0	0	0	1	0	3	2	2	2	3	3	1	0	3	3	4	5	rs141929562	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:123811110C>T	ENST00000307033.2	+	1	861	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGGCCTTTTCGGACATTCCC	0.512													C|||	2	0.000399361	0	0	5008	,	,		22228	0		0.001	False		,,,				2504	0.001					uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(787-789)Cgg>Tgg		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.		C	TRP/ARG	0,4404		0,0,2202	184	142	156		787	1.9	0.5	11	dbSNP_134	156	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	263/319	123811110	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811110C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.787C>T	11.37:g.123811110C>T	ENSP00000305970:p.Arg263Trp						p.R263W	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	787	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	263					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.787C>T	CCDS31699.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.86	2.662798	0.47572	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00107	8.72	4.96	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.896444	0.09216	N	0.832611	T	0.00271	0.0008	L	0.49126	1.545	0.09310	N	1	P	0.44816	0.844	P	0.55303	0.773	T	0.47071	-0.9145	10	0.87932	D	0	-0.2272	4.0139	0.09636	0.4777:0.3212:0.0:0.2011	.	263	Q8NGN0	OR4D5_HUMAN	W	263	ENSP00000305970:R263W	ENSP00000305970:R263W	R	+	1	2	OR4D5	123316320	0.000000	0.05858	0.519000	0.27824	0.956000	0.61745	-2.175000	0.01263	0.218000	0.20820	0.650000	0.86243	CGG		0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		T	123811110	C	T	123811110	3	4	210	1	0	0	0	0	1	0	0	0	11057	875	31	2	789	2	OR4D5	11	123811110	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	2827264	123811110	11195406	41	14698											
ATN1	1822	broad.mit.edu	37	chr12	7047759	7047759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccccctacctgggtcCtgacactccagccttgcgca	6	8	9	18	1	0	1	0	1	0	0	2	1	2	1	7	1	4	1	7	1	1	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:7047759C>T	ENST00000356654.4	+	7	2870	c.2633C>T	c.(2632-2634)cCt>cTt	p.P878L	ATN1_ENST00000396684.2_Missense_Mutation_p.P878L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	878					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TACCTGGGTCCTGACACTCCA	0.632											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrw.1																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2632-2634)cCt>cTt		Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.							68	70	70					12																	7047759		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047759C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2633C>T	12.37:g.7047759C>T	ENSP00000349076:p.Pro878Leu		OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	p.P878L	NM_001007026	NP_001931	P54259	ATN1_HUMAN			6	2870	+			878					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2633C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049459	0.93740	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.57595	0.39;0.39;0.39	4.96	4.96	0.65561	.	0.244071	0.21236	U	0.077886	T	0.70806	0.3266	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72686	-0.4218	10	0.87932	D	0	.	18.8408	0.92183	0.0:1.0:0.0:0.0	.	878	P54259	ATN1_HUMAN	L	878;878;878;463	ENSP00000349076:P878L;ENSP00000379915:P878L;ENSP00000441744:P878L	ENSP00000229279:P463L	P	+	2	0	ATN1	6918020	1.000000	0.71417	0.768000	0.31515	0.936000	0.57629	7.584000	0.82572	2.767000	0.95098	0.650000	0.86243	CCT		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7047759	C	T	7047759	3	4	210	1	0	0	0	0	1	0	0	0	1111	681	24	3	2655	3	ATN1	12	7047759	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		7047759	126804136	42	14699											
SLC26A10	65012	broad.mit.edu	37	chr12	58014190	58014190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacttctttcttccccGtcctcatctacagcttgcta	6	16	3	16	1	5	0	1	0	4	0	7	0	7	0	3	0	4	2	3	0	3	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:58014190G>A	ENST00000320442.4	+	1	498	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|SLC26A10_ENST00000379218.2_Missense_Mutation_p.V63I	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	63						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCTTCCCCGTCCTCATCTA	0.537																																						uc001spe.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(187-189)Gtc>Atc		Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.							396	385	389					12																	58014190		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58014190G>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.187G>A	12.37:g.58014190G>A	ENSP00000320217:p.Val63Ile					BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	p.V63I	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			0	498	+	Melanoma(17;0.122)		63					A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.187G>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	20.3	3.959685	0.74016	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.91631	-2.88;-2.88	4.71	3.82	0.43975	.	.	.	.	.	D	0.90998	0.7169	N	0.25957	0.775	0.40024	D	0.975447	D	0.71674	0.998	D	0.64321	0.924	D	0.88761	0.3257	9	0.28530	T	0.3	.	10.6174	0.45458	0.0931:0.0:0.9069:0.0	.	63	Q8NG04	S2610_HUMAN	I	63	ENSP00000320217:V63I;ENSP00000368520:V63I	ENSP00000320217:V63I	V	+	1	0	SLC26A10	56300457	1.000000	0.71417	0.864000	0.33941	0.931000	0.56810	4.990000	0.63876	1.356000	0.45884	0.655000	0.94253	GTC		0.537	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			A	58014190	G	A	58014190	3	1	210	1	0	0	0	0	1	0	0	0	14515	1145	40	1	189	1	SLC26A10	12	58014190	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	50966431	58014190	75837705	43	14700											
NOS1	4842	broad.mit.edu	37	chr12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctgcccacacagcGcgaggcattccgccaggcgt	7	6	12	16	4	0	0	0	0	0	0	2	2	2	1	4	3	2	1	4	3	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:117723944G>A	ENST00000338101.4	-	5	1259	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R419C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCACACAGCGCGAGGCATTC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1255-1257)Cgc>Tgc		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						130	131	131					12																	117723944		2168	4298	6466	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723944G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1255C>T	12.37:g.117723944G>A	ENSP00000337459:p.Arg419Cys					NOS1_uc021ren.1_Missense_Mutation_p.R83C|NOS1_uc021reo.1_Missense_Mutation_p.R83C|NOS1_uc001twm.2_Missense_Mutation_p.R419C	p.R419C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	5	1966	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		419						Missense_Mutation	SNP	ENST00000338101.4	37	c.1255C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305182	0.81247	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.56444	0.46;0.46	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.85682	D	0.000000	T	0.81763	0.4891	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87928	0.2708	10	0.87932	D	0	-26.0352	18.3299	0.90264	0.0:0.0:1.0:0.0	.	419	P29475	NOS1_HUMAN	C	419	ENSP00000320758:R419C;ENSP00000337459:R419C	ENSP00000320758:R419C	R	-	1	0	NOS1	116208327	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.362000	0.59467	2.559000	0.86315	0.591000	0.81541	CGC		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117723944	G	A	117723944	3	1	210	1	0	0	0	0	1	0	0	0	10541	1087	38	1	3145	1	NOS1	12	117723944	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	59709754	117723944	16127951	44	14701											
KDM2B	84678	broad.mit.edu	37	chr12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcagctctgcttcatgCgcccggggcccccgaacttc	5	9	11	16	3	2	1	1	1	1	0	3	2	2	1	3	2	5	3	3	2	1	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:121890960C>T	ENST00000377071.4	-	13	1994	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	KDM2B_ENST00000542973.1_Missense_Mutation_p.R9H|KDM2B_ENST00000377069.4_Missense_Mutation_p.R610H|KDM2B_ENST00000536437.1_Missense_Mutation_p.R524H	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	641					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706																																						uc001uat.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1921-1923)cGc>cAc		Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.							22	26	25					12																	121890960		2032	4182	6214	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121890960C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1922G>A	12.37:g.121890960C>T	ENSP00000366271:p.Arg641His					KDM2B_uc010szy.2_Missense_Mutation_p.R81H|KDM2B_uc001uaq.3_Missense_Mutation_p.R81H|KDM2B_uc001uar.3_Missense_Mutation_p.R232H|KDM2B_uc001uas.3_Missense_Mutation_p.R610H|KDM2B_uc021rfd.1_Missense_Mutation_p.R610H|KDM2B_uc001uau.3_Missense_Mutation_p.R524H|KDM2B_uc021rfe.1_Missense_Mutation_p.R641H	p.R641H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			12	2026	-			641					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1922G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937733	0.92458	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T;T	0.52754	0.97;2.05;1.46;0.65	5.11	4.21	0.49690	Zinc finger, CXXC-type (2);	0.296225	0.23310	N	0.049569	T	0.71576	0.3356	M	0.85542	2.76	0.51767	D	0.999931	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.927;0.998;0.971;0.993;0.95	T	0.77781	-0.2459	10	0.87932	D	0	-18.0175	15.0117	0.71555	0.1436:0.8564:0.0:0.0	.	81;524;641;610;81	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	H	641;9;610;641;524;641;81;641	ENSP00000437821:R9H;ENSP00000366269:R610H;ENSP00000366271:R641H;ENSP00000445196:R524H	ENSP00000261824:R641H	R	-	2	0	KDM2B	120375343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.932000	0.70121	1.359000	0.45940	0.555000	0.69702	CGC		0.706	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		T	121890960	C	T	121890960	3	4	210	1	0	0	0	0	1	0	0	0	8125	768	27	1	2184	1	KDM2B	12	121890960	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	4167016	121890960	11960935	45	14702											
KBTBD6	89890	broad.mit.edu	37	chr13	41705212	41705212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagtctcgaattaccattAggtcaaaggataaaaaagaa	19	9	8	5	1	2	1	1	0	1	1	3	4	2	2	1	2	1	0	1	2	9	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr13:41705212A>G	ENST00000379485.1	-	1	1670	c.1436T>C	c.(1435-1437)cTa>cCa	p.L479P	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L413P	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	479										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AATTACCATTAGGTCAAAGGA	0.433																																						uc001uxu.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1435-1437)cTa>cCa		Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.							76	78	77					13																	41705212		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705212A>G	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1436T>C	13.37:g.41705212A>G	ENSP00000368799:p.Leu479Pro					AK056182_uc001uxv.1_5'Flank	p.L479P	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	0	1725	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	479					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1436T>C	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	a	10.51	1.369946	0.24771	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.68025	-0.3;-0.3	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.086147	0.47455	D	0.000224	T	0.68924	0.3054	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.76494	0.999;0.993	D;P	0.70227	0.968;0.836	T	0.72235	-0.4352	10	0.87932	D	0	.	10.7997	0.46480	1.0:0.0:0.0:0.0	.	413;479	F5GZN7;Q86V97	.;KBTB6_HUMAN	P	479;413	ENSP00000368799:L479P;ENSP00000444326:L413P	ENSP00000368799:L479P	L	-	2	0	KBTBD6	40603212	0.938000	0.31826	0.183000	0.23137	0.034000	0.12701	7.225000	0.78051	1.731000	0.51592	0.379000	0.24179	CTA		0.433	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		G	41705212	A	G	41705212	3	3	210	1	0	0	0	0	1	0	0	0	7997	420	15	4	592	4	KBTBD6	13	41705212	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		41705212	73464666	46	14703											
TSHR	7253	broad.mit.edu	37	chr14	81610025	81610025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggcacgcatgtgccatCatggttgggggctgggtttg	5	11	16	9	1	2	0	2	0	0	0	2	0	2	0	1	5	1	5	1	5	0	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:81610025C>T	ENST00000541158.2	+	11	1945	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.I541I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	541					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGTGCCATCATGGTTGGGG	0.587			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1621-1623)atC>atT		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						488	332	385					14																	81610025		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610025C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1623C>T	14.37:g.81610025C>T							p.I541I	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	1779	+			541					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1623C>T	CCDS9872.1																																																																																				0.587	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		T	81610025	C	T	81610025	2	4	210	1	0	0	0	0	0	0	0	1	16619	816	29	3		3	TSHR	14	81610025	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08		81610025	25739515	47	14704											
ASB2	51676	broad.mit.edu	37	chr14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgatgatgggccccGcccagcggctcacctctggg	6	6	14	15	3	2	1	1	1	1	0	3	3	2	2	4	4	1	1	4	4	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:94404157G>A	ENST00000315988.4	-	7	2002	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000556337.1_5'Flank|ASB2_ENST00000555019.1_Missense_Mutation_p.A553V	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	505					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597																																						uc001ycd.3																			0		p.R553Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1657-1659)gCg>gTg		Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.							57	50	53					14																	94404157		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94404157G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1514C>T	14.37:g.94404157G>A	ENSP00000320675:p.Ala505Val					ASB2_uc001ycb.2_Missense_Mutation_p.A199V|ASB2_uc001ycc.2_Missense_Mutation_p.A505V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	p.A553V	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	8	2028	-		all_cancers(154;0.13)	505			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1658C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198385	0.58126	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.69926	-0.44;-0.29;-0.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	L	0.28400	0.85	0.49915	D	0.999838	D;D;D	0.89917	0.995;1.0;0.995	P;D;P	0.80764	0.629;0.994;0.629	T	0.66854	-0.5818	10	0.16896	T	0.51	-0.0639	18.5726	0.91142	0.0:0.0:1.0:0.0	.	521;553;505	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	553;521;505;451;451	ENSP00000451575:A553V;ENSP00000320675:A505V;ENSP00000450940:A451V	ENSP00000320675:A505V	A	-	2	0	ASB2	93473910	1.000000	0.71417	0.985000	0.45067	0.933000	0.57130	9.869000	0.99810	2.387000	0.81309	0.462000	0.41574	GCG		0.597	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			A	94404157	G	A	94404157	3	1	210	1	0	0	0	0	1	0	0	0	1023	1087	38	1	257	1	ASB2	14	94404157	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	12794132	94404157	12945383	48	14705											
MGA	23269	broad.mit.edu	37	chr15	42058284	42058284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggtagatatgggtggCagcaaatatcctcatgaagt	11	12	13	5	0	1	2	1	1	0	1	2	2	2	2	1	4	1	4	1	4	5	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:42058284C>T	ENST00000570161.1	+	23	8004	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	MGA_ENST00000389936.4_Silent_p.G2629G|MGA_ENST00000566586.1_Silent_p.G2459G|MGA_ENST00000219905.7_Silent_p.G2668G|MGA_ENST00000545763.1_Silent_p.G2459G			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATGGGTGGCAGCAAATATC	0.393																																						uc010ucy.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(8002-8004)ggC>ggT		Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.							85	81	82					15																	42058284		1896	4129	6025	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058284C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8004C>T	15.37:g.42058284C>T						MGA_uc010ucz.2_Silent_p.G2459G	p.G2668G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	23	8185	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2629					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.8004C>T	CCDS55959.1																																																																																				0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42058284	C	T	42058284	2	4	210	1	0	0	0	0	0	0	0	1	9540	697	25	3		3	MGA	15	42058284	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08		42058284	60473108	49	14706											
EIF3J	8669	broad.mit.edu	37	chr15	44849840	44849840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcttagttcgagatgtgtGtatttcatgtaagtaattct	10	18	9	4	1	3	1	1	0	2	1	4	2	3	1	0	0	0	4	0	0	4	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:44849840G>A	ENST00000261868.5	+	6	701	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	EIF3J_ENST00000535391.1_Intron|RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000424492.3_Missense_Mutation_p.C139Y	NM_003758.2	NP_003749.2			eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CGAGATGTGTGTATTTCATGT	0.313																																						uc001ztv.3																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9						c.(562-564)tGt>tAt		Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.							55	62	59					15																	44849840		2197	4295	6492	SO:0001583	missense	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44849840G>A	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000261868.5:c.563G>A	15.37:g.44849840G>A	ENSP00000261868:p.Cys188Tyr					EIF3J_uc010ueg.2_Intron	p.C188Y	NM_003758	NP_003749	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	5	690	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	188						Missense_Mutation	SNP	ENST00000261868.5	37	c.563G>A	CCDS10111.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239675	0.79800	.	.	ENSG00000104131	ENST00000261868;ENST00000424492	T;T	0.45276	0.9;0.9	5.77	4.84	0.62591	Eukaryotic translation initiation factor 3-like domain (1);	0.042984	0.85682	D	0.000000	T	0.65123	0.2661	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.985;1.0	T	0.68584	-0.5370	10	0.52906	T	0.07	.	16.1398	0.81515	0.0:0.0:0.8653:0.1347	.	139;188	F5H425;O75822	.;EIF3J_HUMAN	Y	188;139	ENSP00000261868:C188Y;ENSP00000414548:C139Y	ENSP00000261868:C188Y	C	+	2	0	EIF3J	42637132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.473000	0.97714	1.416000	0.47057	0.655000	0.94253	TGT		0.313	EIF3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253850.1	NM_003758		A	44849840	G	A	44849840	3	1	210	1	0	0	0	0	1	0	0	0	5020	1377	48	3	585	3	EIF3J	15	44849840	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	2791556	44849840	57681552	50	14707											
MORF4L1	10933	broad.mit.edu	37	chr15	79183885	79183885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagcctcctcggaagaaaAgggcccgggtagatcctact	10	7	11	13	2	1	2	1	0	0	2	4	3	3	3	4	3	2	1	4	3	5	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:79183885A>G	ENST00000331268.5	+	8	730	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	MORF4L1_ENST00000426013.2_Missense_Mutation_p.R137G|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.R110G|MORF4L1_ENST00000558502.1_Missense_Mutation_p.R49G|MORF4L1_ENST00000559345.1_Missense_Mutation_p.R49G|MORF4L1_ENST00000379535.4_Missense_Mutation_p.R162G	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	176	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCGGAAGAAAAGGGCCCGGGT	0.448																																						uc002bel.3																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(526-528)Agg>Ggg		Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.							59	59	59					15																	79183885		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79183885A>G	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.526A>G	15.37:g.79183885A>G	ENSP00000331310:p.Arg176Gly					MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.3_Missense_Mutation_p.R137G|MORF4L1_uc010une.2_Missense_Mutation_p.R49G	p.R176G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			7	714	+			176			Interaction with RB1-1.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.526A>G	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751251	0.69533	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.10573	2.86;2.86;2.86	4.91	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	M	0.78916	2.43	0.58432	D	0.999992	B;B;D	0.56035	0.222;0.343;0.974	B;B;D	0.63033	0.22;0.211;0.91	T	0.01444	-1.1353	10	0.32370	T	0.25	-16.6019	10.2468	0.43345	0.6822:0.3178:0.0:0.0	.	137;137;176	A5D8W6;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	G	162;137;176	ENSP00000368850:R162G;ENSP00000408880:R137G;ENSP00000331310:R176G	ENSP00000331310:R176G	R	+	1	2	MORF4L1	76970940	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	4.256000	0.58810	0.803000	0.34113	0.459000	0.35465	AGG		0.448	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		G	79183885	A	G	79183885	3	3	210	1	0	0	0	0	1	0	0	0	9706	63	3	4	556	4	MORF4L1	15	79183885	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	34334045	79183885	23347507	51	14708											
GRIN2A	2903	broad.mit.edu	37	chr16	9943716	9943716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctcctccagggtgaCgatgctgagatggttgtcat	6	11	15	9	1	1	2	1	2	0	1	3	4	3	2	3	4	1	2	3	4	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:9943716C>T	ENST00000396573.2	-	6	1534	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.V409I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V409I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V409I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V409I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V252I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	409					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCAGGGTGACGATGCTGAGA	0.582																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1225-1227)Gtc>Atc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						169	134	146					16																	9943716		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943716C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1225G>A	16.37:g.9943716C>T	ENSP00000379818:p.Val409Ile					GRIN2A_uc002czo.4_Missense_Mutation_p.V409I|GRIN2A_uc010uyn.2_Missense_Mutation_p.V252I|GRIN2A_uc002czr.4_Missense_Mutation_p.V409I	p.V409I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			5	1535	-			409					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1225G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540522	0.96474	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	M	0.84846	2.72	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.992	P;P;P	0.61658	0.822;0.668;0.892	T	0.08126	-1.0737	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	252;409;409	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	409;409;252;409;409	ENSP00000379818:V409I;ENSP00000385872:V409I;ENSP00000441572:V252I;ENSP00000332549:V409I;ENSP00000379820:V409I	.	V	-	1	0	GRIN2A	9851217	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.684000	0.84104	2.430000	0.82344	0.655000	0.94253	GTC		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9943716	C	T	9943716	3	4	210	1	0	0	0	0	1	0	0	0	6779	536	19	1	3205	1	GRIN2A	16	9943716	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		9943716	80411037	52	14709											
CPNE7	27132	broad.mit.edu	37	chr16	89649923	89649923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgcaggggtggccacaCgcagggatggcaggtgcttg	7	6	19	9	2	0	0	0	0	0	0	0	2	0	1	1	6	2	4	1	6	0	1	rs202128349		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:89649923C>T	ENST00000268720.5	+	4	699	c.569C>T	c.(568-570)aCg>aTg	p.T190M	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	190					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGGCCACACGCAGGGATGG	0.642													c|||	1	0.000199681	0	0	5008	,	,		15643	0		0.001	False		,,,				2504	0					uc002fnp.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(568-570)aCg>aTg		Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.							22	16	18					16																	89649923		2139	4249	6388	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89649923C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.569C>T	16.37:g.89649923C>T	ENSP00000268720:p.Thr190Met					CPNE7_uc002fnq.3_Intron	p.T190M	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	3	699	+		all_hematologic(23;0.0748)	190						Missense_Mutation	SNP	ENST00000268720.5	37	c.569C>T	CCDS10980.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.819	0.520203	0.13005	.	.	ENSG00000178773	ENST00000268720	T	0.30448	1.53	2.29	-0.0285	0.13922	.	0.376195	0.14385	U	0.322917	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	P	0.40534	0.72	B	0.15870	0.014	T	0.15292	-1.0442	10	0.66056	D	0.02	.	4.8415	0.13492	0.0:0.4301:0.4243:0.1456	.	190	Q9UBL6	CPNE7_HUMAN	M	190	ENSP00000268720:T190M	ENSP00000268720:T190M	T	+	2	0	CPNE7	88177424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.338000	0.02655	-0.144000	0.11314	0.506000	0.49869	ACG		0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			T	89649923	C	T	89649923	3	4	210	1	0	0	0	0	1	0	0	0	3817	536	19	1	583	1	CPNE7	16	89649923	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	79706207	89649923	704830	53	14710											
NF1	4763	broad.mit.edu	37	chr17	29533378	29533378	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagcacacccagcaataCgaatggcaccggtaagataa	15	5	11	10	2	0	1	0	0	0	1	0	3	0	2	2	3	3	4	2	3	5	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29533378C>T	ENST00000358273.4	+	12	1764	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R461*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R461*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	461					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.R461*(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAGCAATACGAATGGCACC	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	17	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(3)	p.0?(8)|p.R461*(6)|p.?(6)	soft_tissue(8)|autonomic_ganglia(4)|central_nervous_system(4)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM000780	NF1	M		c.(1381-1383)Cga>Tga		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							174	157	163					17																	29533378		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29533378C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1381C>T	17.37:g.29533378C>T	ENSP00000351015:p.Arg461*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Nonsense_Mutation_p.R461*|NF1_uc002hgf.2_Nonsense_Mutation_p.R461*|NF1_uc002hgh.3_Nonsense_Mutation_p.R461*|NF1_uc010csn.2_Nonsense_Mutation_p.R321*	p.R461*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1764	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	461					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1381C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934837	0.92458	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.17	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8528	0.78947	0.2481:0.7519:0.0:0.0	.	.	.	.	X	461;461;461;127	.	ENSP00000348498:R461X	R	+	1	2	NF1	26557504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.509000	0.53386	0.905000	0.36596	0.655000	0.94253	CGA		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29533378	C	T	29533378	4	4	210	1	0	0	0	0	0	1	0	0	10356	528	19	1	1427	1	NF1	17	29533378	Nonsense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		29533378	51661832	54	14711											
NF1	4763	broad.mit.edu	37	chr17	29552132	29552132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagatagaagttcctGtcactttctccttttttacg	8	15	8	10	1	2	2	1	0	1	2	4	2	3	2	2	1	1	3	2	1	3	6	rs535869486		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29552132G>T	ENST00000358273.4	+	17	2248	c.1865G>T	c.(1864-1866)tGt>tTt	p.C622F	NF1_ENST00000356175.3_Missense_Mutation_p.C622F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	622					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGTTCCTGTCACTTTCTC	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)|p.C622*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1864-1866)tGt>tTt		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							129	134	132					17																	29552132		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29552132G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1865G>T	17.37:g.29552132G>T	ENSP00000351015:p.Cys622Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Missense_Mutation_p.C622F|NF1_uc010csn.2_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	p.C622F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	16	2248	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	622					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1865G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984861	0.35036	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09163	3.14;3.29;3.01	5.19	4.15	0.48705	Armadillo-type fold (1);	0.425238	0.25820	N	0.028093	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B;B;B	0.32693	0.38;0.036;0.012	B;B;B	0.28784	0.094;0.054;0.011	T	0.39840	-0.9594	10	0.72032	D	0.01	.	15.7033	0.77558	0.0:0.1488:0.8512:0.0	.	622;622;622	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	F	622;622;288	ENSP00000351015:C622F;ENSP00000348498:C622F;ENSP00000389907:C288F	ENSP00000348498:C622F	C	+	2	0	NF1	26576258	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.165000	0.58196	2.409000	0.81822	0.655000	0.94253	TGT		0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29552132	G	T	29552132	3	4	210	1	0	0	0	0	1	0	0	0	10356	1377	48	5	1992	5	NF1	17	29552132	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18754	29552132	51643078	55	14712											
TMEM132E	124842	broad.mit.edu	37	chr17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagccagtcagtcaagCggaggatcatgtggcacatt	11	8	11	11	1	4	0	4	0	0	0	4	2	4	2	2	3	2	1	2	3	1	1	rs371393529		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:32956104C>T	ENST00000321639.5	+	5	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	317						integral component of membrane (GO:0016021)		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612																																						uc002hif.3																			1	Substitution - Missense(1)	p.R317W(2)	cervix(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(949-951)Cgg>Tgg		Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.			TRP/ARG	0,4406		0,0,2203	100	93	95		949	3.5	1	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/985	32956104	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956104C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.949C>T	17.37:g.32956104C>T	ENSP00000316532:p.Arg317Trp						p.R317W	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	4	1277	+			317					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.949C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187608	0.38609	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.19532	2.14	4.51	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.65975	2.015	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.72032	D	0.01	-29.8251	11.4588	0.50197	0.3265:0.6735:0.0:0.0	.	317	Q6IEE7	T132E_HUMAN	W	317	ENSP00000316532:R317W	ENSP00000316532:R317W	R	+	1	2	TMEM132E	29980217	0.995000	0.38212	0.984000	0.44739	0.044000	0.14063	1.296000	0.33389	1.236000	0.43740	0.447000	0.29281	CGG		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		T	32956104	C	T	32956104	3	4	210	1	0	0	0	0	1	0	0	0	16045	759	27	1	967	1	TMEM132E	17	32956104	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3403972	32956104	48239106	56	14713											
C17orf46	124783	broad.mit.edu	37	chr17	43333267	43333267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaaagtcagactcctcGttcgagttggcttccgtgtc	6	14	9	12	3	3	1	2	0	1	1	8	2	5	1	2	1	0	3	2	1	1	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:43333267G>A	ENST00000331780.4	-	4	377	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Silent_p.N73N	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	94					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											CAGACTCCTCGTTCGAGTTGG	0.562																																						uc002iis.1																			0											c.(280-282)aaC>aaT		Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.							123	113	117					17																	43333267		2203	4300	6503	SO:0001819	synonymous_variant	124783							g.chr17:43333267G>A	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.282C>T	17.37:g.43333267G>A						LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Silent_p.N73N	p.N94N	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			3	378	-			94					Q7Z4U1|Q8N6V6	Silent	SNP	ENST00000331780.4	37	c.282C>T	CCDS32669.1																																																																																				0.562	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		A	43333267	G	A	43333267	2	1	210	1	0	0	0	0	0	0	0	1	1857	1136	40	1		1	C17orf46	17	43333267	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	10377163	43333267	37861943	57	14714											
LRRC37A3	374819	broad.mit.edu	37	chr17	62893283	62893283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagcctccttgactagtagCcacaatagttgccacataag	12	10	8	11	0	0	2	0	2	0	0	1	2	1	2	4	0	3	2	4	0	5	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:62893283C>G	ENST00000584306.1	-	3	623	c.93G>C	c.(91-93)tgG>tgC	p.W31C	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.W31C|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.2_ENST00000581622.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	31						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGACTAGTAGCCACAATAGTT	0.622																																						uc002jey.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(91-93)tgG>tgC		Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.							31	67	55					17																	62893283		2143	4295	6438	SO:0001583	missense	374819					integral to membrane		g.chr17:62893283C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.93G>C	17.37:g.62893283C>G	ENSP00000464535:p.Trp31Cys					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	p.W31C	NM_199340	NP_955372	O60309	L37A3_HUMAN			2	709	-			31					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.93G>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279895	0.23392	.	.	ENSG00000176809	ENST00000319651	T	0.65732	-0.17	2.16	1.17	0.20885	.	.	.	.	.	T	0.50120	0.1597	L	0.48642	1.525	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.39643	-0.9604	9	0.38643	T	0.18	.	6.3176	0.21199	0.2895:0.7105:0.0:0.0	.	31	O60309	L37A3_HUMAN	C	31	ENSP00000325713:W31C	ENSP00000325713:W31C	W	-	3	0	LRRC37A3	60323745	0.026000	0.19158	0.012000	0.15200	0.007000	0.05969	1.106000	0.31098	0.475000	0.27415	-1.347000	0.01240	TGG		0.622	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		G	62893283	C	G	62893283	3	3	210	1	0	0	0	0	1	0	0	0	8993	740	26	5	4859	5	LRRC37A3	17	62893283	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	19560016	62893283	18301927	58	14715											
ZNF532	55205	broad.mit.edu	37	chr18	56587257	56587257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtccttgcagagttctGtggtggaagctttcaacaag	8	13	12	8	1	2	1	1	0	1	1	4	2	3	2	1	2	3	3	1	2	3	3	rs372233148		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:56587257G>A	ENST00000336078.4	+	4	2514	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	ZNF532_ENST00000591230.1_Missense_Mutation_p.V580M|ZNF532_ENST00000589288.1_Missense_Mutation_p.V580M|ZNF532_ENST00000591808.1_Missense_Mutation_p.V580M|ZNF532_ENST00000591083.1_Missense_Mutation_p.V580M	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGAGTTCTGTGGTGGAAGC	0.522																																						uc010xeg.2																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1738-1740)Gtg>Atg		Homo sapiens zinc finger protein 532 (ZNF532), mRNA.		G	MET/VAL	1,4405		0,1,2202	31	30	31		1738	5.8	1	18		31	0,8594		0,0,4297	no	missense	ZNF532	NM_018181.4	21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	580/1302	56587257	1,12999	2203	4297	6500	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587257G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1738G>A	18.37:g.56587257G>A	ENSP00000338217:p.Val580Met					ZNF532_uc002lhp.3_Missense_Mutation_p.V578M|ZNF532_uc002lho.3_Missense_Mutation_p.V580M|ZNF532_uc002lhr.3_Missense_Mutation_p.V578M|ZNF532_uc002lhs.3_Missense_Mutation_p.V578M	p.V580M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			2	1935	+			580					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1738G>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	21.1	4.098503	0.76870	2.27E-4	0.0	ENSG00000074657	ENST00000336078	T	0.01767	4.65	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02661	-1.1127	10	0.56958	D	0.05	-11.6481	19.6535	0.95827	0.0:0.0:1.0:0.0	.	580	Q9HCE3	ZN532_HUMAN	M	580	ENSP00000338217:V580M	ENSP00000338217:V580M	V	+	1	0	ZNF532	54738237	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.757000	0.98924	2.748000	0.94277	0.550000	0.68814	GTG		0.522	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		A	56587257	G	A	56587257	3	1	210	1	0	0	0	0	1	0	0	0	17969	1377	48	3	1740	3	ZNF532	18	56587257	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		56587257	21489991	59	14716											
ZNF236	7776	broad.mit.edu	37	chr18	74680222	74680222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacggggaggagctgaGccggaccctccacctggagg	8	3	18	12	2	0	1	0	1	0	0	1	6	1	6	4	7	2	2	4	7	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:74680222G>T	ENST00000253159.8	+	31	5663	c.5465G>T	c.(5464-5466)aGc>aTc	p.S1822I	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1824I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1822					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGAGCTGAGCCGGACCCTC	0.602																																						uc002lmi.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(5464-5466)aGc>aTc		Homo sapiens zinc finger protein 236 (ZNF236), mRNA.							69	80	76					18																	74680222		2006	4191	6197	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74680222G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5465G>T	18.37:g.74680222G>T	ENSP00000253159:p.Ser1822Ile					ZNF236_uc002lmj.3_Non-coding_Transcript	p.S1822I	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	30	5663	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1822					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.5465G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	9.734	1.163044	0.21538	.	.	ENSG00000130856	ENST00000253159	T	0.11169	2.8	3.62	1.17	0.20885	.	0.543992	0.16721	U	0.202249	T	0.06508	0.0167	N	0.24115	0.695	0.18873	N	0.999983	B	0.28512	0.214	B	0.25884	0.064	T	0.30416	-0.9979	10	0.62326	D	0.03	.	6.0219	0.19634	0.2054:0.1744:0.6202:0.0	.	1822	Q9UL36	ZN236_HUMAN	I	1822	ENSP00000253159:S1822I	ENSP00000253159:S1822I	S	+	2	0	ZNF236	72809210	1.000000	0.71417	0.935000	0.37517	0.953000	0.61014	3.039000	0.49791	0.625000	0.30304	0.557000	0.71058	AGC		0.602	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			T	74680222	G	T	74680222	3	4	210	1	0	0	0	0	1	0	0	0	17786	971	34	5	5587	5	ZNF236	18	74680222	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18092965	74680222	3397026	60	14717											
ACTL9	284382	broad.mit.edu	37	chr19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgtagccctggaagaCgggcactgtgtaggtgaccc	8	8	15	10	1	0	2	0	1	0	1	0	3	0	3	2	4	1	4	2	4	3	3	rs139329295		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667																																						uc002mkl.2																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(622-624)Gtc>Atc		Homo sapiens actin-like 9 (ACTL9), mRNA.							49	46	47					19																	8808430		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808430C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.622G>A	19.37:g.8808430C>T	ENSP00000316674:p.Val208Ile						p.V208I	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			0	743	-			208					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.622G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	ACTL9	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC		0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		T	8808430	C	T	8808430	3	4	210	1	0	0	0	0	1	0	0	0	203	536	19	1	632	1	ACTL9	19	8808430	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		8808430	50320553	61	14718											
PVR	5817	broad.mit.edu	37	chr19	45153152	45153152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccatggcccgctgcGtctccacagggggtcgcccg	4	6	14	17	4	1	0	0	0	1	0	3	0	1	0	4	3	2	1	4	3	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:45153152G>A	ENST00000425690.3	+	3	798	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	PVR_ENST00000344956.4_Missense_Mutation_p.V167I|PVR_ENST00000406449.4_Missense_Mutation_p.V167I|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.V167I	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	167	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCCGCTGCGTCTCCACAGG	0.617																																						uc002ozm.3																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(499-501)Gtc>Atc		Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.							73	78	76					19																	45153152		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153152G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.499G>A	19.37:g.45153152G>A	ENSP00000402060:p.Val167Ile					PVR_uc010ejs.3_Missense_Mutation_p.V167I|PVR_uc010xxb.2_Missense_Mutation_p.V167I|PVR_uc010xxc.2_Missense_Mutation_p.V167I|PVR_uc002ozn.3_Missense_Mutation_p.V112I	p.V167I	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	2	798	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	167			Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.499G>A	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	8.050	0.765823	0.15983	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.54	-0.0787	0.13714	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.352640	0.05220	N	0.508444	T	0.63379	0.2506	L	0.28014	0.82	0.09310	N	1	B;B;B;B	0.31968	0.178;0.349;0.032;0.04	B;B;B;B	0.32289	0.052;0.143;0.06;0.068	T	0.45571	-0.9252	10	0.15066	T	0.55	.	7.0295	0.24958	0.395:0.0:0.605:0.0	.	167;167;167;167	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	I	167	ENSP00000340870:V167I;ENSP00000402060:V167I;ENSP00000383907:V167I;ENSP00000385344:V167I	ENSP00000340870:V167I	V	+	1	0	PVR	49844992	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.000000	0.03693	-0.180000	0.10637	-1.169000	0.01745	GTC		0.617	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		A	45153152	G	A	45153152	3	1	210	1	0	0	0	0	1	0	0	0	12837	1145	40	1	509	1	PVR	19	45153152	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	36344722	45153152	13975831	62	14719											
NTF4	4909	broad.mit.edu	37	chr19	49564639	49564639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaggcccggccagtccGgctgaggagtgtgcagacgc	6	6	16	13	3	1	2	1	1	1	1	3	3	2	3	3	4	1	2	3	4	0	0	rs121918427		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:49564639G>A	ENST00000593537.1	-	1	615	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NTF4_ENST00000594938.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000597853.1_5'Flank|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_Intron|CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.R206W			P34130	NTF4_HUMAN	neurotrophin 4	206			R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance). {ECO:0000269|PubMed:19765683}.|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth). {ECO:0000269|PubMed:19765683, ECO:0000269|PubMed:20215012}.		adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGGCCAGTCCGGCTGAGGAGT	0.602																																						uc002pmf.4																			0				kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(616-618)Cgg>Tgg		Homo sapiens neurotrophin 4 (NTF4), mRNA.		G	TRP/ARG	1,4405		0,1,2202	29	29	29	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	616	0.9	1	19	dbSNP_133	29	8,8590		0,8,4291	yes	missense	NTF4	NM_006179.4	101	0,9,6493	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	206/211	49564639	9,12995	2203	4299	6502	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564639G>A		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"Endogenous ligands"	8024	protein-coding gene	gene with protein product	"neurotrophic factor 4"	162662	"neurotrophin 5 (neurotrophin 4/5)"	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.616C>T	19.37:g.49564639G>A	ENSP00000469455:p.Arg206Trp					NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.R206W	p.R206W	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	1	752	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	206		R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance).|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth).			Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.616C>T	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745831	0.49151	2.27E-4	9.3E-4	ENSG00000167744	ENST00000301411	T	0.72394	-0.65	3.27	0.937	0.19494	Nerve growth factor-related (3);	0.205916	0.25894	N	0.027601	T	0.75302	0.3831	L	0.48642	1.525	0.46542	D	0.999096	D	0.89917	1.0	D	0.66716	0.946	T	0.75045	-0.3456	10	0.87932	D	0	-22.7245	10.6938	0.45886	0.0:0.0:0.6552:0.3448	.	206	P34130	NTF4_HUMAN	W	206	ENSP00000301411:R206W	ENSP00000301411:R206W	R	-	1	2	NTF4	54256451	0.998000	0.40836	0.999000	0.59377	0.656000	0.38851	1.819000	0.39022	0.347000	0.23924	0.313000	0.20887	CGG		0.602	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		A	49564639	G	A	49564639	3	1	210	1	0	0	0	0	1	0	0	0	10697	1115	39	2	20	2	NTF4	19	49564639	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	4411487	49564639	9564344	63	14720											
ZNF813	126017	broad.mit.edu	37	chr19	53994271	53994271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaacctagtgtgccatcGtagatgtcacactggggaga	11	8	13	9	2	1	2	1	0	0	2	2	4	1	2	2	2	2	1	2	2	3	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:53994271G>A	ENST00000396403.4	+	4	913	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTGTGCCATCGTAGATGTCAC	0.413																																						uc021uzf.1																			0				large_intestine(1)	1								Homo sapiens zinc finger protein 813 (ZNF813), mRNA.							76	78	77					19																	53994271		2201	4298	6499	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994271G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.785G>A	19.37:g.53994271G>A	ENSP00000379684:p.Arg262His					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R262H		NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	0		+									Missense_Mutation	SNP	ENST00000396403.4	37		CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	4.514	0.095433	0.08681	.	.	ENSG00000198346	ENST00000396403	T	0.18502	2.21	1.15	-0.235	0.13071	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14141	0.0342	L	0.54965	1.715	0.09310	N	1	B	0.20550	0.046	B	0.20767	0.031	T	0.30446	-0.9978	9	0.33141	T	0.24	.	4.6454	0.12570	0.5178:0.0:0.4822:0.0	.	262	Q6ZN06	ZN813_HUMAN	H	262	ENSP00000379684:R262H	ENSP00000379684:R262H	R	+	2	0	ZNF813	58686083	0.000000	0.05858	0.074000	0.20217	0.098000	0.18820	-0.505000	0.06367	0.194000	0.20326	0.197000	0.17608	CGT		0.413	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53994271	G	A	53994271	3	1	210	1	0	0	0	0	1	0	0	0	18172	1145	40	1	795	1	ZNF813	19	53994271	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	4429632	53994271	5134712	64	14721											
ZNF335	63925	broad.mit.edu	37	chr20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagaaggggcgacggcGggaggggggctcctcagggt	9	3	22	7	3	1	2	1	0	0	2	2	5	2	3	1	8	0	1	1	8	2	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657																																						uc002xqw.3																			2	Substitution - Missense(2)	p.R719C(4)	lung(2)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2155-2157)Cgc>Tgc		Homo sapiens zinc finger protein 335 (ZNF335), mRNA.							33	37	36					20																	44587938		2202	4300	6502	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44587938G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2155C>T	20.37:g.44587938G>A	ENSP00000325326:p.Arg719Cys					ZNF335_uc010zxk.2_Missense_Mutation_p.R564C	p.R719C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			14	2278	-		Myeloproliferative disorder(115;0.0122)	719					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2155C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561478	0.86335	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.11063	2.94;2.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.00609	-1.1646	10	0.66056	D	0.02	-32.1644	17.5159	0.87773	0.0:0.0:1.0:0.0	.	564;719	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	C	719;496;564	ENSP00000325326:R719C;ENSP00000397098:R564C	ENSP00000243961:R496C	R	-	1	0	ZNF335	44021345	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.631000	0.67812	2.607000	0.88179	0.561000	0.74099	CGC		0.657	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		A	44587938	G	A	44587938	3	1	210	1	0	0	0	0	1	0	0	0	17849	1116	39	2	1929	2	ZNF335	20	44587938	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		44587938	18437582	65	14722											
UCKL1	54963	broad.mit.edu	37	chr20	62571758	62571758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcactgccatcatggcCgccgcgcccgtggacacggt	6	5	13	17	7	1	0	1	0	0	0	1	1	1	1	4	3	1	1	4	3	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:62571758C>T	ENST00000354216.6	-	13	1425	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.A461A|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.A446A|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	461					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCATCATGGCCGCCGCGCCCG	0.642																																						uc010gkn.3																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1381-1383)gcG>gcA		Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.							52	48	50					20																	62571758		2196	4296	6492	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571758C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1383G>A	20.37:g.62571758C>T						UCKL1_uc011abm.2_Silent_p.A446A|UCKL1_uc011abn.2_Non-coding_Transcript	p.A461A	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			12	1458	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		461					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1383G>A	CCDS13547.1																																																																																				0.642	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		T	62571758	C	T	62571758	2	4	210	1	0	0	0	0	0	0	0	1	16922	639	23	2		2	UCKL1	20	62571758	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	17983820	62571758	453762	66	14723											
TPTE	7179	broad.mit.edu	37	chr21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaacagaataataagtcGtagaagtcgaagtaaatgtg	17	11	9	4	2	1	2	0	0	1	2	3	3	1	2	0	0	1	2	0	0	9	5	rs147014138	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr21:10942995G>A	ENST00000361285.4	-	12	921	c.592C>T	c.(592-594)Cga>Tga	p.R198*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R160*|TPTE_ENST00000298232.7_Nonsense_Mutation_p.R180*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATAAGTCGTAGAAGTCGA	0.313																																						uc002yip.1																			0		p.L197H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(592-594)Cga>Tga		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG,stop/ARG	9,4397		0,9,2194	75	70	72		538,478,592	1.1	0.1	21	dbSNP_134	72	30,8568		0,30,4269	no	stop-gained,stop-gained,stop-gained	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,39,6463	AA,AG,GG		0.3489,0.2043,0.2999	,,	180/534,160/514,198/552	10942995	39,12965	2203	4299	6502	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942995G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.592C>T	21.37:g.10942995G>A	ENSP00000355208:p.Arg198*					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	p.R198*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	960	-			198					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.592C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	21.5	4.154027	0.78114	0.002043	0.003489	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	1.12	0.20585	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2096	6.3971	0.21618	0.0:0.0:0.474:0.526	.	.	.	.	X	180;198;160	.	ENSP00000298232:R180X	R	-	1	2	TPTE	9964866	1.000000	0.71417	0.131000	0.22000	0.054000	0.15201	2.258000	0.43249	0.397000	0.25310	0.194000	0.17425	CGA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10942995	G	A	10942995	4	1	210	1	0	0	0	0	0	1	0	0	16427	1153	40	1	1115	1	TPTE	21	10942995	Nonsense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		10942995	37186900	67	14724											
KLHL22	84861	broad.mit.edu	37	chr22	20819524	20819524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttccatcagcggaaaccGcactgtctcaaggagctttg	10	9	10	12	2	2	0	2	0	1	0	4	2	3	2	2	2	4	3	2	2	2	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:20819524G>A	ENST00000328879.4	-	4	889	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	KLHL22_ENST00000440659.2_Missense_Mutation_p.R102W	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	245					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGAAACCGCACTGTCTCA	0.607																																						uc002zsl.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(733-735)Cgg>Tgg		Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.							35	32	33					22																	20819524		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819524G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.733C>T	22.37:g.20819524G>A	ENSP00000331682:p.Arg245Trp					KLHL22_uc011ahr.2_Missense_Mutation_p.R102W	p.R245W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		3	890	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	245					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.733C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711758	0.89112	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.32	5.32	0.75619	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.93083	0.6493	10	0.87932	D	0	.	16.477	0.84135	0.0:0.0:1.0:0.0	.	102;245	B7Z2G1;Q53GT1	.;KLH22_HUMAN	W	245;102;168;277	ENSP00000331682:R245W;ENSP00000405521:R102W;ENSP00000400095:R168W;ENSP00000403999:R277W	ENSP00000331682:R245W	R	-	1	2	KLHL22	19149524	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.085000	0.94083	2.483000	0.83821	0.655000	0.94253	CGG		0.607	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		A	20819524	G	A	20819524	3	1	210	1	0	0	0	0	1	0	0	0	8377	1086	38	1	1187	1	KLHL22	22	20819524	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		20819524	30485042	68	14725											
RFPL2	10739	broad.mit.edu	37	chr22	32586994	32586994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccactcgctgtaacttgCggtctacgaagaggaaagtc	10	9	10	12	3	1	1	0	0	1	1	4	3	2	2	2	2	3	2	2	2	4	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:32586994C>T	ENST00000400237.1	-	5	1837	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RFPL2_ENST00000248980.4_Missense_Mutation_p.R240H|RFPL2_ENST00000400236.3_Missense_Mutation_p.R211H|RFPL2_ENST00000248983.4_Missense_Mutation_p.R211H|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTGTAACTTGCGGTCTACGAA	0.512																																						uc003amg.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(901-903)cGc>cAc		Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.							41	61	54					22																	32586994		2202	4294	6496	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586994C>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.902G>A	22.37:g.32586994C>T	ENSP00000383096:p.Arg301His					RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	p.R301H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN			4	1838	-			301			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.902G>A	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186849	0.09547	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.50701	0.1631	L	0.33710	1.025	0.09310	N	1	B;B	0.15473	0.013;0.0	B;B	0.18561	0.022;0.005	T	0.37056	-0.9722	9	0.54805	T	0.06	.	5.6019	0.17359	0.0:0.6559:0.344:0.0	.	301;240	O75678;O75678-3	RFPL2_HUMAN;.	H	240;211;211;301	ENSP00000248980:R240H;ENSP00000248983:R211H;ENSP00000383095:R211H;ENSP00000383096:R301H	ENSP00000248980:R240H	R	-	2	0	RFPL2	30916994	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.805000	0.00362	-0.711000	0.04995	-0.714000	0.03626	CGC		0.512	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		T	32586994	C	T	32586994	3	4	210	1	0	0	0	0	1	0	0	0	13254	768	27	1	238	1	RFPL2	22	32586994	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	11767470	32586994	18717572	69	14726											
TLR7	51284	broad.mit.edu	37	chrX	12906487	12906487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcttagcaaaaagacaGtgtttgtgatgacagacaag	16	9	10	6	0	0	4	0	2	0	2	0	4	0	4	0	0	3	3	0	0	5	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:12906487G>A	ENST00000380659.3	+	3	2999	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	954	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAAAAAGACAGTGTTTGTGAT	0.388																																						uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2860-2862)Gtg>Atg		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						144	147	146					X																	12906487		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906487G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2860G>A	X.37:g.12906487G>A	ENSP00000370034:p.Val954Met						p.V954M	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			2	2999	+			954			TIR.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2860G>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129801	0.56721	.	.	ENSG00000196664	ENST00000380659	T	0.03580	3.88	5.96	5.09	0.68999	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.154469	0.41938	D	0.000783	T	0.18173	0.0436	M	0.83012	2.62	0.50632	D	0.999889	D	0.63880	0.993	D	0.72338	0.977	T	0.00053	-1.2187	10	0.87932	D	0	.	11.7245	0.51702	0.1466:0.0:0.8534:0.0	.	954	Q9NYK1	TLR7_HUMAN	M	954	ENSP00000370034:V954M	ENSP00000370034:V954M	V	+	1	0	TLR7	12816408	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.581000	0.60949	2.513000	0.84729	0.600000	0.82982	GTG		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		A	12906487	G	A	12906487	3	1	210	1	0	0	0	0	1	0	0	0	15953	1029	36	3	2866	3	TLR7	23	12906487	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		12906487	142364073	70	14727											
CHRDL1	91851	broad.mit.edu	37	chrX	109922646	109922646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcaatatggaagtgctgGagaatgcctagggccaagca	12	9	12	8	0	1	1	1	0	1	1	2	3	1	2	2	3	3	2	2	3	6	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:109922646G>A	ENST00000372045.1	-	11	1271	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	CHRDL1_ENST00000444321.2_Silent_p.L387L|CHRDL1_ENST00000394797.4_Silent_p.L386L|CHRDL1_ENST00000434224.1_Silent_p.L307L|CHRDL1_ENST00000372042.1_Silent_p.L388L|CHRDL1_ENST00000218054.4_Silent_p.L386L|CHRDL1_ENST00000482160.1_Silent_p.L308L			Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453																																						uc004eou.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(1162-1164)ctC>ctT		Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.							119	94	102					X																	109922646		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109922646G>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1140C>T	X.37:g.109922646G>A						CHRDL1_uc004eov.3_Silent_p.L377L|CHRDL1_uc004eow.3_Silent_p.L386L|CHRDL1_uc010nps.3_Silent_p.L387L|CHRDL1_uc011mss.2_Silent_p.L308L	p.L388L	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			10	1513	-			380					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.1164C>T																																																																																					0.453	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		A	109922646	G	A	109922646	2	1	210	1	0	0	0	0	0	0	0	1	3373	1161	41	3		3	CHRDL1	23	109922646	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	97016159	109922646	45347914	71	14728											
AFF2	2334	broad.mit.edu	37	chrX	148039907	148039907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccctgagaagaagcagcGcctggaggaggccacaacta	13	4	13	11	1	0	2	0	1	0	2	1	6	1	4	3	3	3	1	3	3	4	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:148039907G>A	ENST00000370460.2	+	12	3088	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H	AFF2_ENST00000370457.5_Missense_Mutation_p.R837H|AFF2_ENST00000342251.3_Missense_Mutation_p.R837H|AFF2_ENST00000286437.5_Missense_Mutation_p.R511H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	870					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCAGCGCCTGGAGGAG	0.512																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2608-2610)cGc>cAc		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							201	185	191					X																	148039907		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148039907G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2609G>A	X.37:g.148039907G>A	ENSP00000359489:p.Arg870His					AFF2_uc004fcq.3_Missense_Mutation_p.R860H|AFF2_uc004fcr.3_Missense_Mutation_p.R831H|AFF2_uc011mxb.2_Missense_Mutation_p.R835H|AFF2_uc004fcs.3_Missense_Mutation_p.R837H|AFF2_uc011mxc.2_Missense_Mutation_p.R511H	p.R870H	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	3088	+	Acute lymphoblastic leukemia(192;6.56e-05)		870					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2609G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085953	0.94100	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.81	5.81	0.92471	.	0.209053	0.31884	N	0.006906	T	0.78355	0.4270	L	0.48986	1.54	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.998;0.998;0.999	T	0.76310	-0.3006	10	0.38643	T	0.18	.	17.8702	0.88808	0.0:0.0:1.0:0.0	.	511;835;837;831;860;870	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	870;837;837;511	ENSP00000359489:R870H;ENSP00000359486:R837H;ENSP00000345459:R837H;ENSP00000286437:R511H	ENSP00000286437:R511H	R	+	2	0	AFF2	147847607	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.331000	0.79192	2.440000	0.82611	0.600000	0.82982	CGC		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148039907	G	A	148039907	3	1	210	1	0	0	0	0	1	0	0	0	357	1087	38	1	2710	1	AFF2	23	148039907	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	38117261	148039907	7230653	72	14729											
L1CAM	3897	broad.mit.edu	37	chrX	153130576	153130576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgtagccggtgagcaCgccgttgtggctgagtgggg	6	7	19	9	4	0	2	0	2	0	0	0	3	0	2	2	4	3	5	2	4	1	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153130576C>T	ENST00000370060.1	-	22	3028	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	L1CAM_ENST00000370055.1_Missense_Mutation_p.V942M|L1CAM_ENST00000543994.1_Missense_Mutation_p.V949M|L1CAM_ENST00000361699.4_Missense_Mutation_p.V947M|L1CAM_ENST00000361981.3_Missense_Mutation_p.V942M|L1CAM_ENST00000370057.3_Missense_Mutation_p.V947M|L1CAM_ENST00000538883.1_Missense_Mutation_p.V949M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	947	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Missing (in HSAS). {ECO:0000269|PubMed:9195224}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.V947M(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGTGAGCACGCCGTTGTGG	0.716																																						uc004fjb.3																			1	Substitution - Missense(1)	p.V947M(2)|p.G946C(2)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2839-2841)Gtg>Atg		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							24	23	23					X																	153130576		2200	4295	6495	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130576C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2839G>A	X.37:g.153130576C>T	ENSP00000359077:p.Val947Met					L1CAM_uc004fjc.3_Missense_Mutation_p.V947M|L1CAM_uc010nuo.3_Missense_Mutation_p.V942M	p.V947M	NM_000425	NP_000416	P32004	L1CAM_HUMAN			20	2947	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		947		Missing (in HSAS).	Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2839G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396302	0.42512	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.16	4.28	0.50868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.281403	0.24786	N	0.035610	T	0.63896	0.2550	M	0.85197	2.74	0.09310	N	1	D;P;D	0.56968	0.972;0.912;0.978	P;B;P	0.54460	0.638;0.34;0.753	T	0.60372	-0.7276	10	0.49607	T	0.09	.	6.2199	0.20675	0.0:0.7877:0.0:0.2123	.	942;947;947	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	947;949;947;949;942;942;947	ENSP00000359077:V947M;ENSP00000438430:V949M;ENSP00000359074:V947M;ENSP00000439645:V949M;ENSP00000354712:V942M;ENSP00000359072:V942M;ENSP00000355380:V947M	ENSP00000355380:V947M	V	-	1	0	L1CAM	152783770	0.689000	0.27690	0.979000	0.43373	0.455000	0.32408	1.090000	0.30902	2.143000	0.66587	0.523000	0.50628	GTG		0.716	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153130576	C	T	153130576	3	4	210	1	0	0	0	0	1	0	0	0	8588	536	19	1	966	1	L1CAM	23	153130576	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	5090669	153130576	2139984	73	14730											
AVPR2	554	broad.mit.edu	37	chrX	153171843	153171843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgcagctgtgggccGcgtgggacccggaggcacct	4	7	17	13	3	0	0	0	0	0	0	1	2	1	2	4	5	2	3	4	5	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153171843G>A	ENST00000358927.2	+	3	1092	c.883G>A	c.(883-885)Gcg>Acg	p.A295T	AVPR2_ENST00000370049.1_Missense_Mutation_p.A295T|AVPR2_ENST00000337474.5_Missense_Mutation_p.A295T			P30518	V2R_HUMAN	arginine vasopressin receptor 2	295					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCTGTGGGCCGCGTGGGACCC	0.647																																						uc004fjh.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(883-885)Gcg>Acg		Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						130	103	112					X																	153171843		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171843G>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.883G>A	X.37:g.153171843G>A	ENSP00000351805:p.Ala295Thr					AVPR2_uc004fjg.4_Missense_Mutation_p.A84T|AVPR2_uc004fji.3_Missense_Mutation_p.A295T	p.A295T	NM_000054	NP_000045	P30518	V2R_HUMAN			1	1055	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		295					C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.883G>A	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.432096	0.83776	.	.	ENSG00000126895	ENST00000358927;ENST00000337474;ENST00000370049	T;T;T	0.37915	1.17;1.17;1.17	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.186268	0.47455	D	0.000235	T	0.52041	0.1710	M	0.62088	1.915	0.47737	D	0.999506	D;D	0.65815	0.995;0.993	P;P	0.60236	0.796;0.871	T	0.58370	-0.7648	10	0.66056	D	0.02	.	14.0675	0.64839	0.0:0.0:1.0:0.0	.	295;295	P30518-2;P30518	.;V2R_HUMAN	T	295	ENSP00000351805:A295T;ENSP00000338072:A295T;ENSP00000359066:A295T	ENSP00000338072:A295T	A	+	1	0	AVPR2	152825037	1.000000	0.71417	0.958000	0.39756	0.769000	0.43574	7.865000	0.87049	1.737000	0.51674	0.271000	0.19318	GCG		0.647	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			A	153171843	G	A	153171843	3	1	210	1	0	0	0	0	1	0	0	0	1233	1087	38	1	889	1	AVPR2	23	153171843	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	41267	153171843	2098717	74	14731											
AKR7A3	22977	broad.mit.edu	37	chr1	19611245	19611245	+	Frame_Shift_Del	DEL	G	G	-																															acgggctgtttcccattcttGtcctcatacttgtacttgcc																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:19611245delG	ENST00000361640.4	-	5	1179	c.639delC	c.(637-639)gacfs	p.D213fs		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	213					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATTCTTGTCCTCATACT	0.597																																						uc001bbv.1																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(637-639)gacfs		Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.							111	120	117					1																	19611245		2199	4300	6499	SO:0001589	frameshift_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19611245delG	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.639delC	1.37:g.19611245delG	ENSP00000355377:p.Asp213fs						p.D213fs	NM_012067	NP_036199	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	716	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	213					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Frame_Shift_Del	DEL	ENST00000361640.4	37	c.639delC	CCDS193.1																																																																																				0.597	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		-	19611245	G	-	19611245	7	5	211	1	0	1	0	1	0	0	0	0	476	1368	48	0	368	0	AKR7A3	1	19611245	Frame_Shift_Del	DEL	G	TCGA-28-5209-01A-01D-1486-08		19611245	229639376	1	14732											
SLC1A7	6512	broad.mit.edu	37	chr1	53559217	53559217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccgctgtcacccatgCggcccagcatgatgcctgcg	5	6	13	17	3	1	1	1	1	0	0	1	1	1	1	5	2	4	2	5	2	0	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:53559217C>T	ENST00000371494.4	-	6	840	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SLC1A7_ENST00000488036.1_5'Flank	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	238					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GTCACCCATGCGGCCCAGCAT	0.617																																					NSCLC(128;80 1811 21245 38490 51715)	uc021onn.1																			0		p.R238C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(712-714)cGc>cAc		Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	L-Glutamic Acid(DB00142)						36	31	33					1																	53559217		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53559217C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.713G>A	1.37:g.53559217C>T	ENSP00000360549:p.Arg238His					SLC1A7_uc021onm.1_Missense_Mutation_p.R166H|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.R238H|SLC1A7_uc021ono.1_Non-coding_Transcript	p.R238H	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	5	881	-			238					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.713G>A	CCDS574.1	.	.	.	.	.	.	.	.	.	.	c	26.0	4.694434	0.88830	.	.	ENSG00000162383	ENST00000371494	T	0.59083	0.29	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	L	0.55103	1.725	0.80722	D	1	P	0.52842	0.956	P	0.52856	0.711	T	0.70443	-0.4870	10	0.62326	D	0.03	-30.2116	16.7911	0.85589	0.0:1.0:0.0:0.0	.	238	O00341	EAA5_HUMAN	H	238	ENSP00000360549:R238H	ENSP00000360549:R238H	R	-	2	0	SLC1A7	53331805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.871000	0.63042	1.944000	0.56390	0.586000	0.80456	CGC		0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		T	53559217	C	T	53559217	3	4	211	1	0	0	0	0	1	0	0	0	14437	768	27	1	993	1	SLC1A7	1	53559217	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	33947972	53559217	195691404	2	14733											
ODF2L	57489	broad.mit.edu	37	chr1	86838137	86838137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattgtttcaatctgtacTtccaattcggttttttctat	7	22	4	8	1	4	0	2	0	2	0	6	0	5	0	1	1	1	3	1	1	4	10			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:86838137T>A	ENST00000359242.3	-	9	1178	c.897A>T	c.(895-897)gaA>gaT	p.E299D	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.E299D|ODF2L_ENST00000394731.1_Missense_Mutation_p.E168D|ODF2L_ENST00000370566.3_Missense_Mutation_p.E299D|ODF2L_ENST00000370567.1_Missense_Mutation_p.E299D|ODF2L_ENST00000317336.7_Missense_Mutation_p.E299D	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	299						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAATCTGTACTTCCAATTCGG	0.259																																						uc001dll.2																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(895-897)gaA>gaT		Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.							20	20	20					1																	86838137		2181	4289	6470	SO:0001583	missense	57489					centrosome		g.chr1:86838137T>A		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.897A>T	1.37:g.86838137T>A	ENSP00000359600:p.Glu299Asp					ODF2L_uc001dlp.3_Missense_Mutation_p.E299D|ODF2L_uc010osg.2_Missense_Mutation_p.E299D|ODF2L_uc001dlm.2_Missense_Mutation_p.E299D|ODF2L_uc021opg.1_Missense_Mutation_p.E168D|ODF2L_uc001dlq.2_Missense_Mutation_p.E129D|ODF2L_uc009wcr.2_Missense_Mutation_p.E168D	p.E299D	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	8	1259	-			299					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.897A>T	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.71|19.71	3.878365|3.878365	0.72294|0.72294	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890|ENST00000459999	T;T;T;T;T;T;T;D|.	0.86865|.	1.57;1.52;1.61;1.55;1.57;1.62;1.56;-2.18|.	5.25|5.25	1.59|1.59	0.23543|0.23543	.|.	0.244317|.	0.40385|.	N|.	0.001110|.	T|T	0.33469|0.33469	0.0864|0.0864	M|M	0.66939|0.66939	2.045|2.045	0.29102|0.29102	N|N	0.881396|0.881396	D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.998;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.994;0.993;0.981;0.981;0.99;0.998|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.49607|.	T|.	0.09|.	-16.0882|-16.0882	7.7373|7.7373	0.28821|0.28821	0.0:0.3449:0.0:0.6551|0.0:0.3449:0.0:0.6551	.|.	299;299;299;299;299;299|.	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;.;ODF2L_HUMAN|.	D|M	299;299;299;175;299;299;168;299;129|148	ENSP00000359597:E299D;ENSP00000359600:E299D;ENSP00000433092:E175D;ENSP00000320165:E299D;ENSP00000359598:E299D;ENSP00000378219:E168D;ENSP00000294678:E299D;ENSP00000432834:E129D|.	ENSP00000294678:E299D|.	E|K	-|-	3|2	2|0	ODF2L|ODF2L	86610725|86610725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.854000|0.854000	0.27791|0.27791	0.384000|0.384000	0.24942|0.24942	0.455000|0.455000	0.32223|0.32223	GAA|AAG		0.259	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			A	86838137	T	A	86838137	3	1	211	1	0	0	0	0	1	0	0	0	10828	1606	56	5	1229	5	ODF2L	1	86838137	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	33278920	86838137	162412484	3	14734											
SPAG17	200162	broad.mit.edu	37	chr1	118574428	118574428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggtcactataacaggaaCcactgttggagtgagtgctg	12	9	12	8	1	1	1	1	1	0	0	1	3	1	3	1	3	4	2	1	3	4	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:118574428C>A	ENST00000336338.5	-	25	3561	c.3496G>T	c.(3496-3498)Gtt>Ttt	p.V1166F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1166						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATAACAGGAACCACTGTTGGA	0.353																																						uc001ehk.2																			0		p.V1165V(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3496-3498)Gtt>Ttt		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							141	132	135					1																	118574428		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118574428C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3496G>T	1.37:g.118574428C>A	ENSP00000337804:p.Val1166Phe						p.V1166F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	24	3564	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1166					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3496G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	7.861	0.726116	0.15439	.	.	ENSG00000155761	ENST00000336338	T	0.30981	1.51	5.52	-3.13	0.05266	.	0.907276	0.09553	N	0.786717	T	0.07954	0.0199	L	0.34521	1.04	0.09310	N	1	P	0.45474	0.859	B	0.40009	0.316	T	0.24225	-1.0166	10	0.28530	T	0.3	.	8.945	0.35753	0.0:0.4892:0.1144:0.3964	.	1166	Q6Q759	SPG17_HUMAN	F	1166	ENSP00000337804:V1166F	ENSP00000337804:V1166F	V	-	1	0	SPAG17	118375951	0.001000	0.12720	0.362000	0.25862	0.145000	0.21501	-0.435000	0.06931	-0.320000	0.08640	-0.136000	0.14681	GTT		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118574428	C	A	118574428	3	1	211	1	0	0	0	0	1	0	0	0	14979	507	18	5	3271	5	SPAG17	1	118574428	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	31736291	118574428	130676193	4	14735											
FCER1A	2205	broad.mit.edu	37	chr1	159272655	159272655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcagctccagatggcGtgttagcaggtgagtcctct	6	13	12	10	1	1	2	0	1	1	1	3	2	3	2	2	2	3	4	2	2	1	3	rs142162478		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:159272655G>A	ENST00000368115.1	+	3	166	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	FCER1A_ENST00000368114.1_Missense_Mutation_p.V23M	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	23					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCCAGATGGCGTGTTAGCAGG	0.463																																						uc001ftq.3																			0		p.G22V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(67-69)Gtg>Atg		Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	379	345	357		67	-0.9	0	1	dbSNP_134	357	0,8600		0,0,4300	no	missense	FCER1A	NM_002001.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	23/258	159272655	2,13004	2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159272655G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.67G>A	1.37:g.159272655G>A	ENSP00000357097:p.Val23Met						p.V23M	NM_002001	NP_001992	P12319	FCERA_HUMAN			2	164	+	all_hematologic(112;0.0429)		23						Missense_Mutation	SNP	ENST00000368115.1	37	c.67G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.047783	0.00398	4.54E-4	0.0	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02140	4.82;4.43	4.05	-0.9	0.10544	.	13.418400	0.00357	N	0.000022	T	0.00412	0.0013	N	0.01800	-0.715	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.48175	-0.9058	10	0.44086	T	0.13	.	7.3649	0.26768	0.5504:0.0:0.4496:0.0	.	23	P12319	FCERA_HUMAN	M	23	ENSP00000357097:V23M;ENSP00000357096:V23M	ENSP00000357096:V23M	V	+	1	0	FCER1A	157539279	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-1.447000	0.02396	-0.173000	0.10761	-0.302000	0.09304	GTG		0.463	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		A	159272655	G	A	159272655	3	1	211	1	0	0	0	0	1	0	0	0	5774	1145	40	1	73	1	FCER1A	1	159272655	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	40698227	159272655	89977966	5	14736											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863266	186863266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaattatgtcatggatgaaActctagggacagcaacattt	14	11	8	8	0	2	1	1	1	1	0	2	3	2	3	1	2	3	1	1	2	5	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:186863266A>T	ENST00000367466.3	+	5	453	c.301A>T	c.(301-303)Act>Tct	p.T101S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T101S|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	101	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CATGGATGAAACTCTAGGGAC	0.328																																						uc001gsc.3																			0		p.E100*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(301-303)Act>Tct		Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						152	149	150					1																	186863266		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186863266A>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.301A>T	1.37:g.186863266A>T	ENSP00000356436:p.Thr101Ser					PLA2G4A_uc010pos.2_Missense_Mutation_p.T101S	p.T101S	NM_024420	NP_077734	P47712	PA24A_HUMAN			4	506	+			101			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.301A>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979444	0.18812	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.68331	-0.32;-0.32	5.71	5.71	0.89125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.096211	0.64402	D	0.000001	T	0.46210	0.1381	N	0.20845	0.615	0.22771	N	0.998758	B;B	0.13594	0.008;0.004	B;B	0.10450	0.005;0.004	T	0.27123	-1.0083	10	0.06757	T	0.87	-21.1401	10.4288	0.44395	0.8547:0.0:0.0:0.1453	.	101;101	E7EU42;P47712	.;PA24A_HUMAN	S	101	ENSP00000356436:T101S;ENSP00000406892:T101S	ENSP00000356436:T101S	T	+	1	0	PLA2G4A	185129889	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.638000	0.74309	2.171000	0.68590	0.528000	0.53228	ACT		0.328	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		T	186863266	A	T	186863266	3	4	211	1	0	0	0	0	1	0	0	0	12001	43	2	5	315	5	PLA2G4A	1	186863266	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	27590611	186863266	62387355	6	14737											
MIA3	375056	broad.mit.edu	37	chr1	222833136	222833136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaagctgccaatttgAgacacaagtatgtggatttt	14	11	11	5	0	0	1	0	1	0	1	0	4	0	3	1	2	2	2	1	2	5	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:222833136A>G	ENST00000344922.5	+	22	4892	c.4867A>G	c.(4867-4869)Aga>Gga	p.R1623G	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R501G|MIA3_ENST00000344441.6_Missense_Mutation_p.R1623G|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1623					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGCCAATTTGAGACACAAGTA	0.358																																						uc001hnl.3																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4867-4869)Aga>Gga		Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.							107	104	105					1																	222833136		1818	4095	5913	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833136A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4867A>G	1.37:g.222833136A>G	ENSP00000340900:p.Arg1623Gly					MIA3_uc001hnm.3_Missense_Mutation_p.R501G	p.R1623G	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	21	4876	+			1623					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4867A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708470	0.68615	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.57273	0.41;0.41;0.41	6.08	0.655	0.17839	.	.	.	.	.	T	0.74779	0.3761	M	0.88450	2.955	0.47949	D	0.999554	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.982	T	0.80708	-0.1262	9	0.72032	D	0.01	.	15.8334	0.78778	0.409:0.591:0.0:0.0	.	501;1623	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	G	1623;1623;1564;501;501	ENSP00000340900:R1623G;ENSP00000340587:R1623G;ENSP00000345866:R501G	ENSP00000284471:R501G	R	+	1	2	MIA3	220899759	0.988000	0.35896	0.351000	0.25721	0.882000	0.50991	0.663000	0.25053	0.133000	0.18654	0.533000	0.62120	AGA		0.358	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		G	222833136	A	G	222833136	3	3	211	1	0	0	0	0	1	0	0	0	9565	296	11	4	4953	4	MIA3	1	222833136	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	35969870	222833136	26417485	7	14738											
USP39	10713	broad.mit.edu	37	chr2	85863233	85863233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcactcagctctgggggGcacaaagaagaaaaagaaga	16	5	12	8	0	3	4	1	0	2	4	3	4	3	4	0	3	2	3	0	3	5	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:85863233G>A	ENST00000323701.6	+	7	1017	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	USP39_ENST00000409766.3_Missense_Mutation_p.G336D|USP39_ENST00000450066.2_Missense_Mutation_p.G233D|USP39_ENST00000409470.1_Missense_Mutation_p.G336D|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.G336D	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	336	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCTGGGGGGCACAAAGAAG	0.423																																						uc002sqe.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1006-1008)gGc>gAc		Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.							127	134	132					2																	85863233		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863233G>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007G>A	2.37:g.85863233G>A	ENSP00000312981:p.Gly336Asp					USP39_uc002sqb.3_Missense_Mutation_p.G67D|USP39_uc010ysu.2_Missense_Mutation_p.G258D|USP39_uc010ysv.2_Missense_Mutation_p.G233D|USP39_uc010fgn.1_Missense_Mutation_p.G336D|USP39_uc002sqg.3_Missense_Mutation_p.G336D|USP39_uc010fgo.3_Missense_Mutation_p.G336D	p.G336D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN			6	1043	+			336					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.1007G>A	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540730	0.85917	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.83	4.95	0.65309	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.85542	2.76	0.80722	D	1	P;D;D;D;D;P	0.89917	0.85;1.0;1.0;1.0;1.0;0.726	P;D;D;D;D;P	0.85130	0.733;0.992;0.992;0.997;0.997;0.665	T	0.64437	-0.6408	10	0.59425	D	0.04	-5.5828	12.5856	0.56416	0.0805:0.0:0.9195:0.0	.	233;258;336;336;336;336	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	D	233;336;336;336;336;336	ENSP00000396133:G233D;ENSP00000386572:G336D;ENSP00000386864:G336D;ENSP00000312981:G336D;ENSP00000386803:G336D	ENSP00000312981:G336D	G	+	2	0	USP39	85716744	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.062000	0.93920	1.464000	0.47987	0.555000	0.69702	GGC		0.423	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		A	85863233	G	A	85863233	3	1	211	1	0	0	0	0	1	0	0	0	17067	1203	42	3	1033	3	USP39	2	85863233	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		85863233	157336140	8	14739											
TTN	7273	broad.mit.edu	37	chr2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccactacatatttgtgtcGttcttgaacttggaaattga	10	17	7	7	1	1	2	0	2	1	0	3	3	2	3	1	1	2	1	1	1	4	8			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:179631234G>A	ENST00000591111.1	-	41	9801	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R3147*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R3147*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R3193*|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R3193*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R3193*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R3147*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13523					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3147*(6)|p.R3193*(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGTGTCGTTCTTGAACT	0.423																																						uc021vsy.1																			11	Substitution - Nonsense(11)	p.R3147*(6)|p.R3193*(5)|p.P3192L(1)	kidney(6)|large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9577-9579)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							158	144	149					2																	179631234		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631234G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9577C>T	2.37:g.179631234G>A	ENSP00000465570:p.Arg3193*					TTN_uc021vsz.1_Nonsense_Mutation_p.R3147*|TTN_uc021vta.1_Nonsense_Mutation_p.R3147*|TTN_uc021vtb.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	p.R3193*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		40	9802	-			3193					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.9577C>T		.	.	.	.	.	.	.	.	.	.	G	50	17.231516	0.99882	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.7	0.593	0.17478	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6254	0.91336	0.0:0.0:0.226:0.774	.	.	.	.	X	3193;3147;3147;3147;3147;3193	.	ENSP00000340554:R3147X	R	-	1	2	TTN	179339479	0.965000	0.33210	0.977000	0.42913	0.514000	0.34195	0.588000	0.23924	-0.172000	0.10779	-2.591000	0.00164	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179631234	G	A	179631234	4	1	211	1	0	0	0	0	0	1	0	0	16732	1153	40	1	101699	1	TTN	2	179631234	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	93768001	179631234	63568139	9	14740											
MKRN2	23609	broad.mit.edu	37	chr3	12616291	12616291	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgtctgtgcttcagAtctgcatgttgacgttcgaa	6	15	9	11	2	3	2	1	1	2	1	5	3	4	2	2	0	2	4	2	0	1	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:12616291A>G	ENST00000170447.7	+	5	780	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	MKRN2_ENST00000411987.1_Splice_Site_p.I172V|MKRN2_ENST00000448482.1_Splice_Site_p.I213V	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	215	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGTGCTTCAGATCTGCATGTT	0.542																																						uc003bxd.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.e5-1		Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.							128	110	116					3																	12616291		2203	4300	6503	SO:0001630	splice_region_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616291A>G		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.643-1A>G	3.37:g.12616291A>G						MKRN2_uc011aus.2_Splice_Site_p.I172_splice	p.I215_splice	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			5	699	+			215			Makorin-type Cys-His.		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.643_splice	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	A	0.858	-0.736319	0.03111	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.21543	2.81;2.0;2.0	4.95	-1.89	0.07689	.	0.699661	0.15299	N	0.269712	T	0.03739	0.0106	N	0.00707	-1.245	0.29721	N	0.838665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36720	-0.9736	9	.	.	.	.	1.5085	0.02491	0.4414:0.2364:0.2074:0.1148	.	172;213;215	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	V	215;172;213	ENSP00000170447:I215V;ENSP00000396340:I172V;ENSP00000397983:I213V	.	I	+	1	0	MKRN2	12591291	0.996000	0.38824	0.982000	0.44146	0.630000	0.37929	0.673000	0.25203	-0.090000	0.12462	0.460000	0.39030	ATC		0.542	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160	Missense_Mutation	G	12616291	A	G	12616291	5	3	211	1	0	0	0	0	0	0	1	0	9607	347	12	4	661	4	MKRN2	3	12616291	Splice_Site	SNP	A	TCGA-28-5209-01A-01D-1486-08		12616291	185406139	10	14741											
MST1R	4486	broad.mit.edu	37	chr3	49940348	49940348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcactgacaacgccacaAagcccggtgcgaatcccgag	12	3	11	15	4	0	1	0	1	0	0	1	3	1	1	3	1	4	2	3	1	3	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:49940348A>T	ENST00000296474.3	-	1	722	c.695T>A	c.(694-696)tTt>tAt	p.F232Y	MST1R_ENST00000344206.4_Missense_Mutation_p.F232Y|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	232	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAACGCCACAAAGCCCGGTGC	0.577																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(694-696)tTt>tAt		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							44	43	43					3																	49940348		2203	4299	6502	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940348A>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.695T>A	3.37:g.49940348A>T	ENSP00000296474:p.Phe232Tyr					MST1R_uc011bdc.2_Missense_Mutation_p.F232Y|MST1R_uc011bdd.2_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.2_Missense_Mutation_p.F232Y	p.F232Y	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	959	-			232			Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.695T>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443817	0.63067	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10668	2.85;2.85	4.92	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.161324	0.56097	D	0.000036	T	0.22704	0.0548	M	0.69823	2.125	0.35363	D	0.788359	D;D;D;D;D	0.76494	0.997;0.996;0.997;0.997;0.999	D;P;D;D;D	0.69307	0.931;0.889;0.931;0.931;0.963	T	0.23583	-1.0184	10	0.02654	T	1	-12.8511	10.6667	0.45734	0.9223:0.0:0.0777:0.0	.	232;232;232;232;232	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	Y	232	ENSP00000296474:F232Y;ENSP00000341325:F232Y	ENSP00000296474:F232Y	F	-	2	0	MST1R	49915352	0.958000	0.32768	0.027000	0.17364	0.069000	0.16628	3.424000	0.52764	1.839000	0.53478	0.459000	0.35465	TTT		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			T	49940348	A	T	49940348	3	4	211	1	0	0	0	0	1	0	0	0	9891	14	1	5	3587	5	MST1R	3	49940348	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	37324057	49940348	148082082	11	14742											
CACNA1D	776	broad.mit.edu	37	chr3	53837549	53837549	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttgggggagcaggagtaTttcagtagtgaggaatgcta	10	11	16	4	0	1	1	1	1	0	0	1	4	1	4	0	4	3	5	0	4	4	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:53837549T>G	ENST00000350061.5	+	44	6046	c.5535T>G	c.(5533-5535)taT>taG	p.Y1845*	CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.Y224*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Y1821*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Y1865*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1845					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCAGGAGTATTTCAGTAGTG	0.597																																						uc003dgv.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5533-5535)taT>taG		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	Verapamil(DB00661)						142	146	145					3																	53837549		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837549T>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5535T>G	3.37:g.53837549T>G	ENSP00000288133:p.Tyr1845*					CACNA1D_uc003dgu.4_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.2_Non-coding_Transcript	p.Y1845*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	43	5698	+			1845					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.5535T>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	45	11.630661	0.99584	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.56	0.546	0.17196	.	0.751784	0.11635	N	0.544426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5177	0.27610	0.0:0.2703:0.0:0.7297	.	.	.	.	X	1845;1865;1821;1538;224	.	ENSP00000288139:Y1865X	Y	+	3	2	CACNA1D	53812589	1.000000	0.71417	0.997000	0.53966	0.706000	0.40770	0.548000	0.23314	-0.072000	0.12864	0.454000	0.30748	TAT		0.597	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53837549	T	G	53837549	4	3	211	1	0	0	0	0	0	1	0	0	2541	1500	52	5	5881	5	CACNA1D	3	53837549	Nonsense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	3897201	53837549	144184881	12	14743											
ACAD11	84129	broad.mit.edu	37	chr3	132360955	132360955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctaagtccaggaattGttaaatcacggaagattcga	13	10	11	7	2	1	1	1	0	0	1	3	4	2	3	1	3	0	2	1	3	5	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:132360955G>C	ENST00000264990.6	-	4	1369	c.398C>G	c.(397-399)aCa>aGa	p.T133R	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.T133R|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.T133R	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	133					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCCAGGAATTGTTAAATCACG	0.378																																						uc003eov.4																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(397-399)aCa>aGa		Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.							112	104	107					3																	132360955		2203	4300	6503	SO:0001583	missense	84129				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132360955G>C	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.398C>G	3.37:g.132360955G>C	ENSP00000264990:p.Thr133Arg						p.T133R	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN			3	778	-			0					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.398C>G	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	7.384	0.629467	0.14257	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.96427	-3.96;-4.01;1.97	5.49	5.49	0.81192	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	D	0.91637	0.7357	N	0.05383	-0.06	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.15870	0.014;0.006	D	0.86301	0.1680	9	0.46703	T	0.11	.	19.7268	0.96166	0.0:0.0:1.0:0.0	.	133;133	D6RDI8;Q709F0	.;ACD11_HUMAN	R	133	ENSP00000347636:T133R;ENSP00000264990:T133R;ENSP00000420907:T133R	ENSP00000264990:T133R	T	-	2	0	ACAD11	133843645	0.980000	0.34600	0.027000	0.17364	0.073000	0.16967	5.000000	0.63940	2.727000	0.93392	0.563000	0.77884	ACA		0.378	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		C	132360955	G	C	132360955	3	2	211	1	0	0	0	0	1	0	0	0	109	1377	48	5	2012	5	ACAD11	3	132360955	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	78523406	132360955	65661475	13	14744											
RNF168	165918	broad.mit.edu	37	chr3	196229875	196229876	+	Frame_Shift_Del	DEL	CG	CG	-																															accgagtccacgacgataccCggcggcgacagaagggacag																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:196229875_196229876delCG	ENST00000318037.3	-	1	763_764	c.169_170delCG	c.(169-171)cggfs	p.R57fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	57					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CGACGATACCCGGCGGCGACAG	0.545																																						uc003fwq.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(169-171)cggfs		Homo sapiens ring finger protein 168 (RNF168), mRNA.																																				SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229875_196229876delCG	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.169_170delCG	3.37:g.196229875_196229876delCG	ENSP00000320898:p.Arg57fs					RNF168_uc010iah.3_5'UTR	p.R57fs	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	0	764_765	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		57					Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.169_170delCG	CCDS3317.1																																																																																				0.545	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		-	196229876	CG	-	196229875	7	5	211	1	0	1	0	1	0	0	0	0	13459	652	23	0	1569	0	RNF168	3	196229875	Frame_Shift_Del	DEL	CG	TCGA-28-5209-01A-01D-1486-08	63868920	196229875	1792555	14	14745											
ABCG2	9429	broad.mit.edu	37	chr4	89053763	89053763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgggtcccaggatggcGttgagaccaggtttcatgat	7	11	14	9	1	1	2	1	2	0	1	2	4	2	3	3	4	0	2	3	4	0	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:89053763G>A	ENST00000237612.3	-	3	773	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ABCG2_ENST00000515655.1_Silent_p.N76N	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	76	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCAGGATGGCGTTGAGACCAG	0.393																																						uc003hrg.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(226-228)aaC>aaT		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						140	136	137					4																	89053763		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89053763G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.228C>T	4.37:g.89053763G>A						ABCG2_uc003hrh.3_Silent_p.N76N|ABCG2_uc003hrf.3_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	p.N76N	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	2	721	-		Hepatocellular(203;0.114)	76			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.228C>T	CCDS3628.1																																																																																				0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		A	89053763	G	A	89053763	2	1	211	1	0	0	0	0	0	0	0	1	69	1136	40	1		1	ABCG2	4	89053763	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08		89053763	102100513	15	14746											
UNC5C	8633	broad.mit.edu	37	chr4	96256705	96256705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaatataagcttcttcagGctcaataaggaaatgtggca	15	10	8	8	0	3	0	2	0	1	0	3	1	3	1	0	3	1	3	0	3	6	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96256705G>C	ENST00000453304.1	-	2	550	c.202C>G	c.(202-204)Cct>Gct	p.P68A	UNC5C_ENST00000506749.1_Missense_Mutation_p.P68A|UNC5C_ENST00000504962.1_Missense_Mutation_p.P68A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	68	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTTCAGGCTCAATAAGG	0.418																																						uc003hto.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(202-204)Cct>Gct		Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.							86	80	82					4																	96256705		2203	4299	6502	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96256705G>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.202C>G	4.37:g.96256705G>C	ENSP00000406022:p.Pro68Ala					UNC5C_uc010ilc.2_Missense_Mutation_p.P68A|UNC5C_uc003htq.3_Missense_Mutation_p.P68A	p.P68A	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	1	555	-		Hepatocellular(203;0.114)	68			Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.202C>G	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003386	0.93287	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	0.054011	0.85682	D	0.000000	T	0.77665	0.4164	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;P;D	0.97110	1.0;0.874;0.971	T	0.81070	-0.1099	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	68;68;68	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	A	68;27;68;68;68	ENSP00000406022:P68A;ENSP00000426924:P68A;ENSP00000426153:P68A;ENSP00000425117:P68A	ENSP00000328673:P27A	P	-	1	0	UNC5C	96475728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	CCT		0.418	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		C	96256705	G	C	96256705	3	2	211	1	0	0	0	0	1	0	0	0	16990	1203	42	5	2653	5	UNC5C	4	96256705	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	7202942	96256705	94897571	16	14747											
PDHA2	5161	broad.mit.edu	37	chr4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtcagttatcgtacaCgagaagaaattcaggaagta	15	9	11	6	2	2	2	2	0	0	2	3	5	2	4	0	2	1	3	0	2	6	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96762205C>T	ENST00000295266.4	+	1	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	302					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTATCGTACACGAGAAGAAAT	0.423																																						uc003htr.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(904-906)Cga>Tga		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						94	92	93					4																	96762205		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762205C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.904C>T	4.37:g.96762205C>T	ENSP00000295266:p.Arg302*						p.R302*	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	967	+		Hepatocellular(203;0.114)	302					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.904C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980352	0.53827	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.91	1.04	0.20106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0511	13.5147	0.61533	0.689:0.311:0.0:0.0	.	.	.	.	X	302	.	ENSP00000295266:R302X	R	+	1	2	PDHA2	96981228	0.937000	0.31787	0.001000	0.08648	0.313000	0.28021	2.006000	0.40874	0.051000	0.15978	-0.366000	0.07423	CGA		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			T	96762205	C	T	96762205	4	4	211	1	0	0	0	0	0	1	0	0	11665	528	19	1	906	1	PDHA2	4	96762205	Nonsense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	505500	96762205	94392071	17	14748											
ADAD1	132612	broad.mit.edu	37	chr4	123317517	123317517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcagttcattggctgctTttataattgaaagaggtaag	13	14	10	4	0	1	2	1	1	0	1	1	2	1	2	0	2	2	5	0	2	5	8			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:123317517T>C	ENST00000296513.2	+	7	894	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	ADAD1_ENST00000388725.2_Missense_Mutation_p.F219L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.F237L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	237					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTGGCTGCTTTTATAATTGA	0.279																																						uc003ieo.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(709-711)Ttt>Ctt		Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.							47	52	50					4																	123317517		2202	4290	6492	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123317517T>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.709T>C	4.37:g.123317517T>C	ENSP00000296513:p.Phe237Leu					ADAD1_uc003iep.3_Missense_Mutation_p.F237L|ADAD1_uc003ieq.3_Missense_Mutation_p.F219L	p.F237L	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN			6	941	+			237					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.709T>C	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219886	0.58560	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.37584	1.22;1.3;1.19	5.79	5.79	0.91817	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.41710	1.295	0.80722	D	1	B;B	0.24618	0.026;0.107	B;B	0.26770	0.073;0.037	T	0.11227	-1.0596	10	0.62326	D	0.03	-25.8618	15.1117	0.72362	0.0:0.0:0.0:1.0	.	237;237	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	237;237;237;219	ENSP00000296513:F237L;ENSP00000373376:F237L;ENSP00000373377:F219L	ENSP00000296513:F237L	F	+	1	0	ADAD1	123536967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.554000	0.60760	2.203000	0.70933	0.533000	0.62120	TTT		0.279	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		C	123317517	T	C	123317517	3	2	211	1	0	0	0	0	1	0	0	0	231	1841	64	4	727	4	ADAD1	4	123317517	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	26555312	123317517	67836759	18	14749											
RASGRF2	5924	broad.mit.edu	37	chr5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggacaccagccaaaCgttcatccgccaaggtaagt	11	8	9	13	2	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	3	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:80382758C>T	ENST00000265080.4	+	9	1443	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532																																						uc003kha.2																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1375-1377)aCg>aTg		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							145	127	133					5																	80382758		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80382758C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1376C>T	5.37:g.80382758C>T	ENSP00000265080:p.Thr459Met					RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	p.T459M	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	8	1426	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	459					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1376C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896445	0.72639	.	.	ENSG00000113319	ENST00000265080	T	0.31247	1.5	5.72	5.72	0.89469	Pleckstrin homology-type (1);	0.105633	0.64402	D	0.000004	T	0.39118	0.1066	M	0.73962	2.25	0.80722	D	1	P;P	0.48294	0.908;0.653	B;B	0.40375	0.327;0.089	T	0.34229	-0.9837	10	0.38643	T	0.18	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	459;459	D6RAS9;O14827	.;RGRF2_HUMAN	M	459	ENSP00000265080:T459M	ENSP00000265080:T459M	T	+	2	0	RASGRF2	80418514	1.000000	0.71417	0.548000	0.28192	0.978000	0.69477	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	ACG		0.532	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		T	80382758	C	T	80382758	3	4	211	1	0	0	0	0	1	0	0	0	13073	536	19	1	1410	1	RASGRF2	5	80382758	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		80382758	100532502	19	14750											
SLC22A5	6584	broad.mit.edu	37	chr5	131729923	131729923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaaggatgttaaaagatGgtcaagaaaggcccacaatc	18	6	9	8	0	1	2	1	0	0	2	2	3	1	3	1	3	0	1	1	3	6	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:131729923G>T	ENST00000245407.3	+	10	1854	c.1633G>T	c.(1633-1635)Ggt>Tgt	p.G545C	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G569C	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	545					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GTTAAAAGATGGTCAAGAAAG	0.393																																						uc003kwx.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1705-1707)Ggt>Tgt		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	L-Carnitine(DB00583)						122	115	117					5																	131729923		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131729923G>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1633G>T	5.37:g.131729923G>T	ENSP00000245407:p.Gly545Cys					SLC22A5_uc003kww.4_Missense_Mutation_p.G545C	p.G569C	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1969	+		all_cancers(142;0.0751)|Breast(839;0.198)	545					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1705G>T	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660533	0.29515	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.74421	-0.78;-0.84	5.28	3.5	0.40072	.	0.825572	0.11372	N	0.570748	T	0.61009	0.2313	N	0.19112	0.55	0.09310	N	0.999999	D;P	0.55172	0.97;0.708	B;B	0.42882	0.401;0.293	T	0.50775	-0.8788	10	0.59425	D	0.04	.	9.1467	0.36937	0.1695:0.0:0.8305:0.0	.	569;545	A2Q0V1;O76082	.;S22A5_HUMAN	C	545;569	ENSP00000245407:G545C;ENSP00000402760:G569C	ENSP00000245407:G545C	G	+	1	0	SLC22A5	131757822	0.968000	0.33430	0.839000	0.33178	0.479000	0.33129	2.510000	0.45468	0.799000	0.34018	0.655000	0.94253	GGT		0.393	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		T	131729923	G	T	131729923	3	4	211	1	0	0	0	0	1	0	0	0	14457	1348	47	5	1671	5	SLC22A5	5	131729923	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	51347165	131729923	49185337	20	14751											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751480	140751480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcgtcctacgtgtccGtgagcgcgcggagcggggtg	4	8	18	11	7	0	1	0	1	0	0	3	2	2	2	2	3	4	1	2	3	1	1	rs569737317		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:140751480G>A	ENST00000576222.1	+	1	1650	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	507	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCCGTGAGCGCGCG	0.667													.|||	1	0.000199681	8e-04	0	5008	,	,		18069	0		0	False		,,,				2504	0					uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1519-1521)Gtg>Atg		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							53	57	56					5																	140751480		2075	4222	6297	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751480G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1519G>A	5.37:g.140751480G>A	ENSP00000461862:p.Val507Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.V507M|PCDHGC5_uc011dau.2_5'Flank	p.V507M	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1519	+			509			Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1519G>A	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140751480	G	A	140751480	3	1	211	1	0	0	0	0	1	0	0	0	11564	1145	40	1	1521	1	PCDHGB3	5	140751480	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	9021557	140751480	40163780	21	14752											
GRM6	2916	broad.mit.edu	37	chr5	178408768	178408768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatggaagaggatgaCgtaggttttgggtacgtaga	10	11	16	4	2	1	3	0	1	1	2	1	6	1	6	0	5	1	4	0	5	4	5	rs201777089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:178408768C>T	ENST00000517717.1	-	11	2562	c.2524G>A	c.(2524-2526)Gtc>Atc	p.V842I	GRM6_ENST00000231188.5_Missense_Mutation_p.V842I|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	842					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAGGATGACGTAGGTTTTG	0.587													C|||	1	0.000199681	0	0	5008	,	,		20768	0.001		0	False		,,,				2504	0					uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2524-2526)Gtc>Atc		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.		C	ILE/VAL	0,4406		0,0,2203	170	155	160		2524	1.1	1	5		160	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GRM6	NM_000843.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	842/878	178408768	2,13004	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178408768C>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2524G>A	5.37:g.178408768C>T	ENSP00000430767:p.Val842Ile					GRM6_uc003mjq.3_Missense_Mutation_p.V245I	p.V842I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2703	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	842						Missense_Mutation	SNP	ENST00000517717.1	37	c.2524G>A	CCDS4442.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.163	-1.079274	0.01903	0.0	2.33E-4	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.86164	-2.08;-2.08	5.47	1.14	0.20703	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.62865	0.2463	N	0.02142	-0.665	0.32618	N	0.523689	B;B	0.11235	0.004;0.001	B;B	0.14023	0.004;0.01	T	0.59542	-0.7435	9	0.02654	T	1	.	8.281	0.31900	0.0:0.6043:0.0:0.3957	.	842;136	O15303;Q5HYM4	GRM6_HUMAN;.	I	842	ENSP00000231188:V842I;ENSP00000430767:V842I	ENSP00000231188:V842I	V	-	1	0	GRM6	178341374	0.998000	0.40836	1.000000	0.80357	0.150000	0.21749	0.674000	0.25218	0.377000	0.24735	-0.448000	0.05591	GTC		0.587	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			T	178408768	C	T	178408768	3	4	211	1	0	0	0	0	1	0	0	0	6801	536	19	1	113	1	GRM6	5	178408768	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	37657288	178408768	2506492	22	14753											
LRFN2	57497	broad.mit.edu	37	chr6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgccaaaagtccccCgggcccccaccaggtcactc	8	4	10	19	2	1	0	1	0	0	0	3	1	2	1	6	3	2	1	6	3	2	0	rs146316351	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:40359728C>T	ENST00000338305.6	-	3	2866	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													C|||	3	0.000599042	0.0023	0	5008	,	,		13249	0		0	False		,,,				2504	0					uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2323-2325)cGg>cAg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	42	44	44		2324	4.4	1	6	dbSNP_134	44	0,8600		0,0,4300	yes	missense	LRFN2	NM_020737.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	775/790	40359728	4,13002	2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359728C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2324G>A	6.37:g.40359728C>T	ENSP00000345985:p.Arg775Gln						p.R775Q	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	2789	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		775					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2324G>A	CCDS34443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.74	1.728986	0.30684	9.08E-4	0.0	ENSG00000156564	ENST00000338305	T	0.58060	0.36	5.27	4.39	0.52855	.	0.100654	0.64402	D	0.000004	T	0.13030	0.0316	N	0.14661	0.345	0.22489	N	0.999054	B	0.33857	0.429	B	0.20184	0.028	T	0.02471	-1.1154	10	0.44086	T	0.13	.	6.092	0.19999	0.0:0.7541:0.0:0.2459	.	775	Q9ULH4	LRFN2_HUMAN	Q	775	ENSP00000345985:R775Q	ENSP00000345985:R775Q	R	-	2	0	LRFN2	40467706	0.997000	0.39634	0.964000	0.40570	0.675000	0.39556	2.529000	0.45632	2.466000	0.83321	0.555000	0.69702	CGG		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40359728	C	T	40359728	3	4	211	1	0	0	0	0	1	0	0	0	8938	652	23	2	49	2	LRFN2	6	40359728	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		40359728	130755339	23	14754											
TTBK1	84630	broad.mit.edu	37	chr6	43222352	43222352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgctggacttcgggctggCccggcagtacaccaacacca	9	7	11	14	2	0	0	0	0	0	0	1	1	0	1	3	4	3	4	3	4	3	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:43222352C>T	ENST00000259750.4	+	6	622	c.539C>T	c.(538-540)gCc>gTc	p.A180V	TTBK1_ENST00000304139.5_Missense_Mutation_p.A129V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCGGGCTGGCCCGGCAGTAC	0.652																																						uc003ouq.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(538-540)gCc>gTc		Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.							59	60	60					6																	43222352		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222352C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.539C>T	6.37:g.43222352C>T	ENSP00000259750:p.Ala180Val						p.A180V	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		5	818	+			180			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.539C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812970	0.96975	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.75821	-0.97	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054186	0.64402	D	0.000001	D	0.85539	0.5720	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87709	0.2565	10	0.87932	D	0	.	17.5136	0.87767	0.0:1.0:0.0:0.0	.	180	Q5TCY1	TTBK1_HUMAN	V	129;180;129	ENSP00000259750:A180V	ENSP00000259750:A180V	A	+	2	0	TTBK1	43330330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.431000	0.82371	0.655000	0.94253	GCC		0.652	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43222352	C	T	43222352	3	4	211	1	0	0	0	0	1	0	0	0	16673	739	26	3	557	3	TTBK1	6	43222352	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2862624	43222352	127892715	24	14755											
DEFB114	245928	broad.mit.edu	37	chr6	49928132	49928132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtaacgtttggtgcaaCgatcagcattcaccaaggta	12	9	10	10	3	2	0	2	0	0	0	2	2	2	0	2	2	4	5	2	2	4	4	rs577162073		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:49928132C>T	ENST00000322066.3	-	2	82	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	28					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTGGTGCAACGATCAGCATT	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		15582	0		0	False		,,,				2504	0					uc011dwp.2																			0		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(82-84)cGt>cAt		Homo sapiens defensin, beta 114 (DEFB114), mRNA.							103	93	96					6																	49928132		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928132C>T	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.83G>A	6.37:g.49928132C>T	ENSP00000312702:p.Arg28His						p.R28H	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			1	83	-	Lung NSC(77;0.042)		28					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.83G>A	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227755	0.22542	.	.	ENSG00000177684	ENST00000322066	T	0.14391	2.51	3.55	0.752	0.18398	.	0.497156	0.15401	N	0.264318	T	0.10895	0.0266	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.61874	0.895	T	0.07558	-1.0766	8	.	.	.	-6.758	3.1349	0.06436	0.2092:0.5609:0.0:0.2299	.	28	Q30KQ6	DB114_HUMAN	H	28	ENSP00000312702:R28H	.	R	-	2	0	DEFB114	50036091	0.000000	0.05858	0.001000	0.08648	0.484000	0.33280	-0.206000	0.09398	0.136000	0.18733	0.650000	0.86243	CGT		0.353	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		T	49928132	C	T	49928132	3	4	211	1	0	0	0	0	1	0	0	0	4403	536	19	1	129	1	DEFB114	6	49928132	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	6705780	49928132	121186935	25	14756											
SYNJ2	8871	broad.mit.edu	37	chr6	158483053	158483053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttcttgccacgcgggCgacacgcctatgatcaattt	7	11	11	12	4	2	1	1	1	1	0	2	2	2	1	2	2	1	1	2	2	2	4	rs142499089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:158483053C>T	ENST00000355585.4	+	8	1059	c.984C>T	c.(982-984)ggC>ggT	p.G328G	SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.G328G|SYNJ2_ENST00000367121.3_Silent_p.G328G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	328	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACGCGGGCGACACGCCTA	0.567																																						uc003qqx.2																			0		p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(982-984)ggC>ggT		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	154	164	160		273,984	-4.4	0.9	6	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	91/1260,328/1497	158483053	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483053C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.984C>T	6.37:g.158483053C>T						SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.G328G|SYNJ2_uc003qqy.2_Silent_p.G91G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.2_5'UTR	p.G328G	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	7	1090	+			328			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.984C>T	CCDS5254.1																																																																																				0.567	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158483053	C	T	158483053	2	4	211	1	0	0	0	0	0	0	0	1	15450	755	27	1		1	SYNJ2	6	158483053	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	108554921	158483053	12632014	26	14757											
CARD11	84433	broad.mit.edu	37	chr7	2953020	2953020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagagcacgggccggcGgcgctcgcagtagaaggcgc	8	4	18	11	6	0	3	0	1	0	2	1	3	0	3	1	4	1	4	1	4	3	1	rs201847585		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:2953020G>A	ENST00000396946.4	-	22	3323	c.2920C>T	c.(2920-2922)Cgc>Tgc	p.R974C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	974	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACGGGCCGGCGGCGCTCGCAG	0.652			Mis		DLBCL								G|||	1	0.000199681	0	0	5008	,	,		13035	0		0.001	False		,,,				2504	0					uc003smv.3				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2920-2922)Cgc>Tgc		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.		G	CYS/ARG	0,4406		0,0,2203	65	60	62		2920	4.4	1	7		62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CARD11	NM_032415.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	974/1155	2953020	2,13004	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2953020G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2920C>T	7.37:g.2953020G>A	ENSP00000380150:p.Arg974Cys						p.R974C	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	21	3254	-		Ovarian(82;0.0115)	974			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2920C>T	CCDS5336.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.89	2.372434	0.42003	0.0	2.33E-4	ENSG00000198286	ENST00000396946	T	0.32272	1.46	4.36	4.36	0.52297	.	0.064281	0.64402	D	0.000015	T	0.14960	0.0361	N	0.08118	0	0.58432	D	0.999998	B	0.31100	0.308	B	0.18561	0.022	T	0.09378	-1.0677	10	0.72032	D	0.01	-32.2342	11.4845	0.50346	0.0:0.0:0.6923:0.3077	.	974	Q9BXL7	CAR11_HUMAN	C	974	ENSP00000380150:R974C	ENSP00000380150:R974C	R	-	1	0	CARD11	2919546	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.306000	0.51881	1.985000	0.57927	0.484000	0.47621	CGC		0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2953020	G	A	2953020	3	1	211	1	0	0	0	0	1	0	0	0	2645	1116	39	2	560	2	CARD11	7	2953020	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		2953020	156185643	27	14758											
CCDC129	223075	broad.mit.edu	37	chr7	31682505	31682505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggaggaagagtttctGcttgaggccatggaggggcc	8	9	18	6	0	1	3	0	2	1	1	1	6	1	6	2	6	1	2	2	6	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:31682505G>A	ENST00000407970.3	+	11	1559	c.1521G>A	c.(1519-1521)ctG>ctA	p.L507L	CCDC129_ENST00000409210.1_Silent_p.L415L|CCDC129_ENST00000319386.3_Silent_p.L359L|CCDC129_ENST00000451887.2_Silent_p.L533L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	507								p.L359L(1)|p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGAGTTTCTGCTTGAGGCCA	0.532																																						uc011kae.2																			2	Substitution - coding silent(2)	p.L359L(1)|p.L507L(1)	lung(2)	cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1597-1599)ctG>ctA		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							106	107	107					7																	31682505		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682505G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1521G>A	7.37:g.31682505G>A						CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tcj.1_Silent_p.L507L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc003tck.1_Silent_p.L415L	p.L533L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			10	1611	+			507					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1599G>A	CCDS5435.2																																																																																				0.532	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31682505	G	A	31682505	2	1	211	1	0	0	0	0	0	0	0	1	2764	1306	46	3		3	CCDC129	7	31682505	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	28729485	31682505	127456158	28	14759											
AEBP1	165	broad.mit.edu	37	chr7	44146386	44146386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaccaagaagcccccGtcagggaagaggccccccat	12	2	11	16	1	1	2	1	0	0	2	1	3	1	3	7	3	1	0	7	3	4	0	rs144974496		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:44146386G>A	ENST00000223357.3	+	2	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	165	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652																																						uc003tkb.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(493-495)ccG>ccA		Homo sapiens AE binding protein 1 (AEBP1), mRNA.		G		0,4388		0,0,2194	49	54	52		495	-1.8	0	7	dbSNP_134	52	1,8591		0,1,4295	no	coding-synonymous	AEBP1	NM_001129.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		165/1159	44146386	1,12979	2194	4296	6490	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146386G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.495G>A	7.37:g.44146386G>A							p.P165P	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			1	800	+			165			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.495G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271352	0.10349	0.0	1.16E-4	ENSG00000106624	ENST00000455443	.	.	.	4.33	-1.83	0.07833	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	2.0383	1.4654	0.02405	0.2831:0.1443:0.4262:0.1463	.	.	.	.	I	123	.	.	V	+	1	0	AEBP1	44112911	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.552000	0.06020	-0.223000	0.09943	0.462000	0.41574	GTC		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44146386	G	A	44146386	2	1	211	1	0	0	0	0	0	0	0	1	349	1132	40	1		1	AEBP1	7	44146386	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	12463881	44146386	114992277	29	14760											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55233043G>C	ENST00000275493.2	+	15	1970	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_ENST00000454757.2_Missense_Mutation_p.G545A|EGFR_ENST00000344576.2_Missense_Mutation_p.G598A|EGFR_ENST00000455089.1_Missense_Mutation_p.G553A|EGFR_ENST00000442591.1_Missense_Mutation_p.G598A|EGFR_ENST00000342916.3_Missense_Mutation_p.G598A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gCa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>C	7.37:g.55233043G>C	ENSP00000275493:p.Gly598Ala	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598A	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727885	0.89390	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.996;1.0	P;D;D;D	0.79108	0.557;0.952;0.95;0.992	T	0.74748	-0.3560	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	A	553;598;468;598;598;598;545;392	ENSP00000415559:G553A;ENSP00000342376:G598A;ENSP00000345973:G598A;ENSP00000275493:G598A;ENSP00000410031:G598A;ENSP00000395243:G545A	ENSP00000275493:G598A	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55233043	G	C	55233043	3	2	211	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	11086657	55233043	103905620	30	14761											
EGFR	1956	broad.mit.edu	37	chr7	55268064	55268064	+	Silent	SNP	C	C	T																															cgtgagttgatcatcgaattCtccaaaatggcccgagaccc																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268064C>T	ENST00000275493.2	+	24	3081	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_ENST00000454757.2_Silent_p.F915F|EGFR_ENST00000455089.1_Silent_p.F923F|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	968	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCATCGAATTCTCCAAAATGG	0.478		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.F968L(2)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2902-2904)ttC>ttT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						173	148	156					7																	55268064		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268064C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2904C>T	7.37:g.55268064C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F	p.F968F	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		23	3150	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		968			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2904C>T	CCDS5514.1																																																																																				0.478	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55268064	C	T	55268064	2	4	211	1	0	0	0	0	0	0	0	1	4967	912	32	3		3	EGFR	7	55268064	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	35021	55268064	103870599	31	14762	17	2									
EGFR	1956	broad.mit.edu	37	chr7	55268067	55268067	+	Silent	SNP	C	C	G																															gagttgatcatcgaattctcCaaaatggcccgagaccccca																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268067C>G	ENST00000275493.2	+	24	3084	c.2907C>G	c.(2905-2907)tcC>tcG	p.S969S	EGFR_ENST00000454757.2_Silent_p.S916S|EGFR_ENST00000455089.1_Silent_p.S924S|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	969	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGAATTCTCCAAAATGGCCC	0.483		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2905-2907)tcC>tcG		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						169	145	153					7																	55268067		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268067C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2907C>G	7.37:g.55268067C>G		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S	p.S969S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		23	3153	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		969			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2907C>G	CCDS5514.1																																																																																				0.483	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55268067	C	G	55268067	2	3	211	1	0	0	0	0	0	0	0	1	4967	581	21	5		5	EGFR	7	55268067	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	3	55268067	103870596	32	14763	17	2									
CHCHD2	51142	broad.mit.edu	37	chr7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-																															tttgatctcatagaggcaagGctgctgctgctgtgctggct																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:56170668_56170670delGCT	ENST00000395422.3	-	3	497_499	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	snoU13_ENST00000458988.1_RNA	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	112	CHCH.					mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488																																						uc003tsa.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(334-339)cagcct>cct		Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001651	inframe_deletion	51142					mitochondrion		g.chr7:56170668_56170670delGCT	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.335_337delAGC	7.37:g.56170677_56170679delGCT	ENSP00000378812:p.Gln112del					PSPH_uc003trj.3_Intron	p.Q112del	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	416_418	-	Breast(14;0.214)		112			CHCH.		Q498C3|Q6NZ50	In_Frame_Del	DEL	ENST00000395422.3	37	c.335_337delAGC	CCDS5526.1																																																																																				0.488	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		-	56170670	GCT	-	56170668	7	5	211	1	0	1	0	1	0	0	0	0	3316	1203	42	0	126	0	CHCHD2	7	56170668	In_Frame_Del	DEL	GCT	TCGA-28-5209-01A-01D-1486-08	902601	56170668	102967995	33	14764											
CALN1	83698	broad.mit.edu	37	chr7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgaggctcttccggaCgcaggtctgtctgttctgct	5	13	12	11	2	4	1	0	1	4	0	5	2	5	2	1	3	1	5	1	3	1	3	rs144352678	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:71252855C>T	ENST00000329008.5	-	6	863	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	CALN1_ENST00000395275.2_Missense_Mutation_p.V231I|CALN1_ENST00000431984.1_Missense_Mutation_p.V189I|CALN1_ENST00000412588.1_Missense_Mutation_p.V231I|CALN1_ENST00000395276.2_Missense_Mutation_p.V189I|CALN1_ENST00000405452.2_Missense_Mutation_p.V189I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													C|||	2	0.000399361	0	0	5008	,	,		20837	0.002		0	False		,,,				2504	0					uc003twb.4																			1	Substitution - Missense(1)	p.V189I(1)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(691-693)Gtc>Atc		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123	97	106		565,691	5.1	1	7	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_001017440.2,NM_031468.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/220,231/262	71252855	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252855C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.565G>A	7.37:g.71252855C>T	ENSP00000332498:p.Val189Ile					CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	p.V231I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1082	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	189					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.691G>A	CCDS5541.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	32	5.173620	0.94807	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74632	-0.7;-0.86;-0.7;-0.7;-0.86;-0.7	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80182	0.4576	L	0.29908	0.895	0.52099	D	0.99994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.82731	-0.0312	10	0.72032	D	0.01	0.0876	17.5493	0.87872	0.0:1.0:0.0:0.0	.	189;189	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	I	189;231;189;189;231;189	ENSP00000332498:V189I;ENSP00000378690:V231I;ENSP00000378691:V189I;ENSP00000410704:V189I;ENSP00000391882:V231I;ENSP00000384354:V189I	ENSP00000332498:V189I	V	-	1	0	CALN1	70890791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GTC		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71252855	C	T	71252855	3	4	211	1	0	0	0	0	1	0	0	0	2591	536	19	1	98	1	CALN1	7	71252855	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	15082187	71252855	87885808	34	14765											
SEMA3E	9723	broad.mit.edu	37	chr7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacacatatagcatgccctcGaaaaatattactgaaaaata	19	9	5	8	1	0	1	0	1	0	0	1	3	0	1	1	0	3	1	1	0	9	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:83032082G>A	ENST00000307792.3	-	10	1476	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R277*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R337*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403																																						uc003uhy.2																			1	Substitution - Nonsense(1)	p.R337*(2)	skin(1)	breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1009-1011)Cga>Tga		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							51	46	48					7																	83032082		2203	4298	6501	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83032082G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1009C>T	7.37:g.83032082G>A	ENSP00000303212:p.Arg337*					SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	p.R337*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			9	1630	-		Medulloblastoma(109;0.109)	337			Sema.		B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.1009C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	37	6.266071	0.97426	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.48	0.0836	0.14434	.	0.097451	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	16.5047	0.84268	0.0:0.0:0.6439:0.3561	.	.	.	.	X	337;277;337	.	ENSP00000303212:R337X	R	-	1	2	SEMA3E	82870018	0.997000	0.39634	0.983000	0.44433	0.984000	0.73092	0.892000	0.28322	-0.216000	0.10048	0.585000	0.79938	CGA		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	83032082	G	A	83032082	4	1	211	1	0	0	0	0	0	1	0	0	14028	1066	37	2	1350	2	SEMA3E	7	83032082	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	11779227	83032082	76106581	35	14766											
ABCB4	5244	broad.mit.edu	37	chr7	87074204	87074204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataatatcaaagatcacatAtgctgctcctcttgcattgg	13	13	6	9	0	3	1	2	0	1	1	4	1	4	1	1	1	3	3	1	1	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:87074204A>G	ENST00000265723.4	-	10	1204	c.1093T>C	c.(1093-1095)Tat>Cat	p.Y365H	ABCB4_ENST00000359206.3_Missense_Mutation_p.Y365H|ABCB4_ENST00000545634.1_Missense_Mutation_p.Y365H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Y365H|ABCB4_ENST00000358400.3_Missense_Mutation_p.Y365H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	365					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AAGATCACATATGCTGCTCCT	0.343																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1093-1095)Tat>Cat		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							66	64	64					7																	87074204		2203	4299	6502	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074204A>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1093T>C	7.37:g.87074204A>G	ENSP00000265723:p.Tyr365His					ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	p.Y365H	NM_018849	NP_061337	P21439	MDR3_HUMAN			9	1169	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		365					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1093T>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	a	10.99	1.508101	0.27036	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	5.01	3.77	0.43336	ABC transporter, transmembrane domain, type 1 (1);	0.192322	0.46145	D	0.000314	T	0.55689	0.1936	N	0.02111	-0.68	0.30578	N	0.762793	B;B;B	0.14805	0.008;0.011;0.006	B;B;B	0.20384	0.011;0.029;0.013	T	0.55166	-0.8183	10	0.27785	T	0.31	-9.9248	10.6452	0.45615	0.8565:0.0:0.0:0.1435	.	365;365;365	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	H	365	ENSP00000352135:Y365H;ENSP00000351172:Y365H;ENSP00000265723:Y365H;ENSP00000392983:Y365H;ENSP00000437465:Y365H	ENSP00000265723:Y365H	Y	-	1	0	ABCB4	86912140	0.394000	0.25246	0.999000	0.59377	0.996000	0.88848	1.615000	0.36922	1.886000	0.54624	0.377000	0.23210	TAT		0.343	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		G	87074204	A	G	87074204	3	3	211	1	0	0	0	0	1	0	0	0	43	449	16	4	2843	4	ABCB4	7	87074204	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	4042122	87074204	72064459	36	14767											
COL1A2	1278	broad.mit.edu	37	chr7	94054949	94054949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaacgatggtcccccaGgtcgcgatggtcaacccgga	8	6	14	13	4	1	0	1	0	0	0	3	4	2	2	3	5	2	0	3	5	2	0	rs72659309		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:94054949G>T	ENST00000297268.6	+	43	3280	c.2809G>T	c.(2809-2811)Ggt>Tgt	p.G937C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	937					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.G937S(2)|p.P936S(1)	ovary(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CM070783	COL1A2	M	rs72659309	c.(2809-2811)Ggt>Tgt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						105	95	98					7																	94054949		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054949G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2809G>T	7.37:g.94054949G>T	ENSP00000297268:p.Gly937Cys	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G937C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		42	3280	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		937					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2809G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246330	0.80024	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99186	-5.53	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97849	1.0273	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	937	P08123	CO1A2_HUMAN	C	937;938	ENSP00000297268:G937C	ENSP00000297268:G937C	G	+	1	0	COL1A2	93892885	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGT		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94054949	G	T	94054949	3	4	211	1	0	0	0	0	1	0	0	0	3678	1000	35	5	2979	5	COL1A2	7	94054949	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	6980745	94054949	65083714	37	14768											
CUX1	1523	broad.mit.edu	37	chr7	101926060	101926060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggactgtgccaccttctgCgccaagaagtgaggaccccc	9	6	12	14	1	1	2	0	1	1	1	1	4	1	4	5	2	2	0	5	2	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:101926060C>T	ENST00000437600.4	+	22	2305	c.1953C>T	c.(1951-1953)tgC>tgT	p.C651C	CUX1_ENST00000393824.3_Silent_p.C614C|SH2B2_ENST00000536178.1_5'Flank|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.C607C|CUX1_ENST00000292538.4_Silent_p.C653C|CUX1_ENST00000547394.2_Silent_p.C637C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACCTTCTGCGCCAAGAAGT	0.662																																						uc003uyt.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1957-1959)tgC>tgT		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.							59	53	55					7																	101926060		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101926060C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1953C>T	7.37:g.101926060C>T						CUX1_uc003uyw.3_Silent_p.C607C|CUX1_uc003uyv.3_Silent_p.C637C|CUX1_uc003uyu.3_Silent_p.C651C|CUX1_uc011kkn.2_Silent_p.C614C|SH2B2_uc011kko.2_5'Flank	p.C653C	NM_001913	NP_001904	P39880	CUX1_HUMAN			21	2086	+			0					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	c.1959C>T	CCDS47672.1																																																																																				0.662	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		T	101926060	C	T	101926060	2	4	211	1	0	0	0	0	0	0	0	1	4064	776	27	1		1	CUX1	7	101926060	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	7871111	101926060	57212603	38	14769											
SVOPL	136306	broad.mit.edu	37	chr7	138305873	138305873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagcgcgcatcgtggtgGggtagacctgcagggagagg	9	5	18	9	3	0	2	0	0	0	2	1	3	0	2	2	5	2	3	2	5	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:138305873G>A	ENST00000419765.3	-	13	1304	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SVOPL_ENST00000288513.5_Missense_Mutation_p.P272L|SVOPL_ENST00000421622.1_Missense_Mutation_p.P304L|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.P272L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	424						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CATCGTGGTGGGGTAGACCTG	0.587																																						uc011kqh.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(1270-1272)cCc>cTc		Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.							58	45	50					7																	138305873		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305873G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1271C>T	7.37:g.138305873G>A	ENSP00000405482:p.Pro424Leu					SVOPL_uc003vue.3_Missense_Mutation_p.P272L	p.P424L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			12	1271	-			424						Missense_Mutation	SNP	ENST00000419765.3	37	c.1271C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471461	0.84533	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107611	0.64402	D	0.000004	D	0.86209	0.5878	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89252	0.3591	10	0.87932	D	0	-25.1893	18.9961	0.92813	0.0:0.0:1.0:0.0	.	424;272	Q8N434;Q8N434-2	SVOPL_HUMAN;.	L	272;304;272;424	ENSP00000288513:P272L;ENSP00000412830:P304L;ENSP00000417018:P272L;ENSP00000405482:P424L	ENSP00000288513:P272L	P	-	2	0	SVOPL	137956413	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.177000	0.77650	2.484000	0.83849	0.650000	0.86243	CCC		0.587	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		A	138305873	G	A	138305873	3	1	211	1	0	0	0	0	1	0	0	0	15421	1232	43	3	219	3	SVOPL	7	138305873	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	36379813	138305873	20832790	39	14770											
EPPK1	83481	broad.mit.edu	37	chr8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccacgtccacgggcaCgcggtggctgtgcacggggt	5	6	18	12	5	0	0	0	0	0	0	1	0	1	0	2	6	1	4	2	6	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr8:144940353C>T	ENST00000525985.1	-	2	7140	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M				P58107	EPIPL_HUMAN	epiplakin 1	2357						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.692																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7069-7071)Gtg>Atg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							197	191	193					8																	144940353		2166	4239	6405	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940353C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7069G>A	8.37:g.144940353C>T	ENSP00000436337:p.Val2357Met						p.V2357M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	7082	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2357					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7069G>A		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891731	0.72524	.	.	ENSG00000227184	ENST00000525985	T	0.72725	-0.68	4.39	0.302	0.15786	.	.	.	.	.	T	0.80660	0.4665	M	0.63208	1.945	0.32803	D	0.500356	D	0.76494	0.999	D	0.69824	0.966	D	0.83839	0.0256	9	0.62326	D	0.03	.	15.6158	0.76767	0.0:0.4298:0.5702:0.0	.	2357	E9PPU0	.	M	2357	ENSP00000436337:V2357M	ENSP00000436337:V2357M	V	-	1	0	EPPK1	145012341	0.000000	0.05858	0.996000	0.52242	0.991000	0.79684	-0.736000	0.04882	-0.048000	0.13401	0.586000	0.80456	GTG		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940353	C	T	144940353	3	4	211	1	0	0	0	0	1	0	0	0	5190	536	19	1	197	1	EPPK1	8	144940353	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		144940353	1423669	40	14771											
ARMC4	55130	broad.mit.edu	37	chr10	28228843	28228843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtaaatggccatggCgcagtgctcctgcagctgct	7	9	12	13	1	0	0	0	0	0	0	1	0	1	0	3	3	4	6	3	3	2	1	rs556371991		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:28228843C>T	ENST00000305242.5	-	14	2172	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	ARMC4_ENST00000537576.1_Missense_Mutation_p.A386T|ARMC4_ENST00000545014.1_Missense_Mutation_p.A219T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	694					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGGCCATGGCGCAGTGCTCC	0.458													C|||	1	0.000199681	0	0.0014	5008	,	,		14088	0		0	False		,,,				2504	0					uc009xky.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2080-2082)Gcc>Acc		Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.							95	83	87					10																	28228843		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28228843C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2080G>A	10.37:g.28228843C>T	ENSP00000306410:p.Ala694Thr					ARMC4_uc010qds.2_Missense_Mutation_p.A219T|ARMC4_uc010qdt.2_Missense_Mutation_p.A386T|ARMC4_uc001itz.3_Missense_Mutation_p.A694T	p.A694T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			13	2178	-			694					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2080G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378847	0.82682	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.68765	-0.35;-0.35;-0.35	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.044932	0.85682	D	0.000000	D	0.85265	0.5657	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.70487	0.937;0.969	D	0.85483	0.1180	10	0.38643	T	0.18	-18.3133	18.587	0.91194	0.0:1.0:0.0:0.0	.	219;694	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	T	386;694;219	ENSP00000443208:A386T;ENSP00000306410:A694T;ENSP00000441076:A219T	ENSP00000306410:A694T	A	-	1	0	ARMC4	28268849	1.000000	0.71417	0.982000	0.44146	0.771000	0.43674	4.543000	0.60684	2.809000	0.96659	0.655000	0.94253	GCC		0.458	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		T	28228843	C	T	28228843	3	4	211	1	0	0	0	0	1	0	0	0	953	768	27	1	1082	1	ARMC4	10	28228843	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		28228843	107305904	41	14772											
HNRNPF	3185	broad.mit.edu	37	chr10	43882701	43882701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcagtcccgggccggTcatagggccctggccgctgc	3	7	15	16	3	1	0	1	0	0	0	3	0	3	0	5	5	1	2	5	5	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:43882701T>C	ENST00000544000.1	-	4	1039	c.632A>G	c.(631-633)gAc>gGc	p.D211G	HNRNPF_ENST00000357065.4_Missense_Mutation_p.D211G|HNRNPF_ENST00000356053.3_Missense_Mutation_p.D211G|HNRNPF_ENST00000337970.3_Missense_Mutation_p.D211G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.D211G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	211					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGGGCCGGTCATAGGGCCC	0.592																																						uc009xmh.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(631-633)gAc>gGc		Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.							63	61	62					10																	43882701		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882701T>C		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.632A>G	10.37:g.43882701T>C	ENSP00000438061:p.Asp211Gly					HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|HNRNPF_uc021ppg.1_Missense_Mutation_p.D211G|HNRNPF_uc010qfa.1_Missense_Mutation_p.V128A	p.D211G	NM_001098208	NP_004957	P52597	HNRPF_HUMAN			2	1119	-			211					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.632A>G	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098651	0.56183	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.24	3.11	0.35812	.	0.047201	0.85682	N	0.000000	T	0.16300	0.0392	M	0.75085	2.285	0.80722	D	1	B	0.25048	0.117	B	0.27715	0.082	T	0.02781	-1.1111	10	0.32370	T	0.25	-30.9973	8.1202	0.30967	0.0:0.0979:0.0:0.9021	.	211	P52597	HNRPF_HUMAN	G	211;211;211;211;211;134	ENSP00000438061:D211G;ENSP00000400433:D211G;ENSP00000348345:D211G;ENSP00000349573:D211G;ENSP00000338477:D211G	ENSP00000338477:D211G	D	-	2	0	HNRNPF	43202707	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.198000	0.77823	0.973000	0.38340	0.533000	0.62120	GAC		0.592	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			C	43882701	T	C	43882701	3	2	211	1	0	0	0	0	1	0	0	0	7265	1667	58	4	619	4	HNRNPF	10	43882701	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	15653858	43882701	91652046	42	14773											
PTEN	5728	broad.mit.edu	37	chr10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T																															gggaagacaagttcatgtacINStttgagttccctcagccgtt																								rs190070312		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:89717695_89717696insT	ENST00000371953.3	+	7	2077_2078	c.720_721insT	c.(721-723)tttfs	p.F241fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	241	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		F -> S (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(718-723)tactttfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717695_89717696insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.723dupT	10.37:g.89717698_89717698dupT	ENSP00000361021:p.Phe241fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y240fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1752_1753	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	240			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.720_721insT	CCDS31238.1																																																																																				0.411	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717696	-	T	89717695	7	5	211	1	0	1	1	0	0	0	0	0	12738	576	20	0	746	0	PTEN	10	89717695	Frame_Shift_Ins	INS	-	TCGA-28-5209-01A-01D-1486-08	45834994	89717695	45817052	43	14774											
PI4K2A	55361	broad.mit.edu	37	chr10	99426254	99426254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctcaggagatcaaaGatctgatccttccaaagata	14	12	6	9	0	3	4	2	1	2	3	6	5	5	4	2	1	0	0	2	1	3	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:99426254G>T	ENST00000370631.3	+	7	1201	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	PI4K2A_ENST00000370649.3_Missense_Mutation_p.D352Y|PI4K2A_ENST00000555577.1_Missense_Mutation_p.D352Y	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	382	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GGAGATCAAAGATCTGATCCT	0.468																																						uc001kog.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1144-1146)Gat>Tat		Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.							79	76	77					10																	99426254		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426254G>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1144G>T	10.37:g.99426254G>T	ENSP00000359665:p.Asp382Tyr					PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	p.D382Y	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	6	1201	+		Colorectal(252;0.162)	382			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1144G>T	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567143	0.65651	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.28	5.28	0.74379	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.154565	0.56097	D	0.000027	D	0.89656	0.6778	M	0.86864	2.845	0.80722	D	1	D;P	0.60160	0.987;0.953	D;P	0.68192	0.956;0.863	D	0.91338	0.5095	10	0.87932	D	0	-8.7751	18.9307	0.92564	0.0:0.0:1.0:0.0	.	352;382	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	Y	352;382;352	ENSP00000452243:D352Y;ENSP00000359665:D382Y;ENSP00000359683:D352Y	ENSP00000359665:D382Y	D	+	1	0	PI4K2A;RP11-548K23.11	99416244	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.469000	0.83416	0.655000	0.94253	GAT		0.468	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		T	99426254	G	T	99426254	3	4	211	1	0	0	0	0	1	0	0	0	11871	942	33	5	1170	5	PI4K2A	10	99426254	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	9708559	99426254	36108493	44	14775											
BTRC	8945	broad.mit.edu	37	chr10	103190197	103190197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccagggactggcgcactCacagctttccaggtactttc	9	9	9	14	1	1	0	1	0	0	0	3	1	2	1	2	3	3	3	2	3	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:103190197C>T	ENST00000370187.3	+	2	262	c.144C>T	c.(142-144)ctC>ctT	p.L48L	BTRC_ENST00000393441.4_Silent_p.L33L|BTRC_ENST00000408038.2_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGCGCACTCACAGCTTTCC	0.527																																						uc001kta.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(142-144)ctC>ctT		Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.							124	105	112					10																	103190197		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103190197C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.144C>T	10.37:g.103190197C>T						BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Silent_p.L48L	p.L48L	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	1	257	+		Colorectal(252;0.234)	48					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.144C>T	CCDS7512.1																																																																																				0.527	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		T	103190197	C	T	103190197	2	4	211	1	0	0	0	0	0	0	0	1	1569	813	29	3		3	BTRC	10	103190197	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	3763943	103190197	32344550	45	14776											
DMBT1	1755	broad.mit.edu	37	chr10	124345651	124345651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgagtggaggtcctataccGaggctcctggggcaccgtgt	6	8	15	12	3	0	0	0	0	0	0	2	3	2	1	5	5	1	2	5	5	2	2	rs374635240		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:124345651G>A	ENST00000338354.3	+	16	1641	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DMBT1_ENST00000368909.3_Missense_Mutation_p.R512Q|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R502Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R502Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	512	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCCTGG	0.592																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1534-1536)cGa>cAa		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.		G	,GLN/ARG,GLN/ARG	1,4029		0,1,2014	305	232	256		,1535,1505	-6.9	0	10		256	2,8312		1,0,4156	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,43,43	1,1,6170	AA,AG,GG		0.0241,0.0248,0.0243	,possibly-damaging,possibly-damaging	,512/2414,502/2404	124345651	3,12341	2015	4157	6172	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345651G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1535G>A	10.37:g.124345651G>A	ENSP00000342210:p.Arg512Gln					DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R512Q|DMBT1_uc021qag.1_Missense_Mutation_p.R502Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.R512Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			15	1641	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	512			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1535G>A		.	.	.	.	.	.	.	.	.	.	G	3.062	-0.192939	0.06259	2.48E-4	2.41E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.5	-6.89	0.01660	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.09202	0.0227	N	0.01817	-0.705	0.09310	N	1	B;B;B	0.21821	0.049;0.049;0.061	B;B;B	0.15484	0.008;0.008;0.013	T	0.43426	-0.9392	9	0.02654	T	1	.	15.0918	0.72201	0.3746:0.0:0.6254:0.0	.	512;502;512	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Q	512;512;512;512;512;512;502;512;502	ENSP00000342210:R512Q;ENSP00000343175:R502Q;ENSP00000357905:R512Q;ENSP00000357951:R502Q	ENSP00000342210:R512Q	R	+	2	0	DMBT1	124335641	0.000000	0.05858	0.001000	0.08648	0.957000	0.61999	-1.335000	0.02662	-1.396000	0.02071	0.456000	0.33151	CGA		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124345651	G	A	124345651	3	1	211	1	0	0	0	0	1	0	0	0	4577	1058	37	2	1597	2	DMBT1	10	124345651	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	21155454	124345651	11189096	46	14777											
TRIM6	117854	broad.mit.edu	37	chr11	5625849	5625849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttatcagagagaagaaaaCatcctggaaggcaagggaga	17	7	12	5	0	1	4	1	0	0	4	2	7	2	5	1	3	1	1	1	3	6	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:5625849C>A	ENST00000278302.5	+	3	649	c.509C>A	c.(508-510)aCa>aAa	p.T170K	TRIM6_ENST00000506134.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.T198K|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.T144K|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000380097.3_Missense_Mutation_p.T198K	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	170					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGAAGAAAACATCCTGGAAG	0.468																																						uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(592-594)aCa>aAa		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							107	107	107					11																	5625849		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5625849C>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.509C>A	11.37:g.5625849C>A	ENSP00000278302:p.Thr170Lys					HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T144K|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T170K|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.T198K|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	p.T198K	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	2	856	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	198					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.593C>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474461	0.26423	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000396867;ENST00000337072;ENST00000354852	T;T;T;T	0.26373	3.62;3.62;3.62;1.74	4.92	-2.22	0.06952	.	.	.	.	.	T	0.22166	0.0534	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.31174	0.311;0.038;0.279;0.112	B;B;B;B	0.35182	0.197;0.016;0.058;0.026	T	0.35599	-0.9782	9	0.37606	T	0.19	.	0.9007	0.01273	0.1525:0.3014:0.2795:0.2666	.	144;198;198;170	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	K	170;144;198;77;198;198	ENSP00000278302:T170K;ENSP00000369450:T144K;ENSP00000369440:T198K;ENSP00000346916:T198K	ENSP00000278302:T170K	T	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5582425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.691000	0.05133	-0.171000	0.10797	-0.136000	0.14681	ACA		0.468	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		A	5625849	C	A	5625849	3	1	211	1	0	0	0	0	1	0	0	0	16530	478	17	5	603	5	TRIM6	11	5625849	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		5625849	129380667	47	14778											
COPB1	1315	broad.mit.edu	37	chr11	14498486	14498486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaagggacctgcggatCtcagtcatcacactctgaat	10	10	8	13	1	5	1	3	1	3	0	7	3	5	3	2	2	1	0	2	2	2	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:14498486C>A	ENST00000249923.3	-	12	1734	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Missense_Mutation_p.E478D|COPB1_ENST00000526191.1_5'Flank	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	478					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACCTGCGGATCTCAGTCATCA	0.373																																						uc001mlh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1432-1434)gaG>gaT		Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.							172	158	163					11																	14498486		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14498486C>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1434G>T	11.37:g.14498486C>A	ENSP00000249923:p.Glu478Asp					COPB1_uc001mli.2_Missense_Mutation_p.E478D|COPB1_uc001mlg.2_Missense_Mutation_p.E478D|U7_uc021qee.1_5'Flank	p.E478D	NM_001144061	NP_057535	P53618	COPB_HUMAN			11	1680	-			478					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1434G>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019414	0.54576	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.22945	1.93;1.93;1.93	5.63	-3.3	0.05003	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.77103	2.36	0.54753	D	0.999984	P	0.34864	0.473	B	0.42062	0.374	T	0.33548	-0.9864	10	0.30854	T	0.27	-1.0308	14.2809	0.66211	0.0:0.3371:0.0:0.6629	.	478	P53618	COPB_HUMAN	D	478	ENSP00000249923:E478D;ENSP00000397873:E478D;ENSP00000436383:E478D	ENSP00000249923:E478D	E	-	3	2	COPB1	14455062	0.986000	0.35501	0.982000	0.44146	0.987000	0.75469	0.223000	0.17719	-0.378000	0.07918	-0.345000	0.07892	GAG		0.373	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		A	14498486	C	A	14498486	3	1	211	1	0	0	0	0	1	0	0	0	3728	912	32	5	1471	5	COPB1	11	14498486	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	8872637	14498486	120508030	48	14779											
KCNA4	3739	broad.mit.edu	37	chr11	30033178	30033178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaagtatcattcaacaAcccaccatgcccgccagcac	12	7	6	16	1	2	1	2	1	0	0	2	1	2	1	4	0	5	3	4	0	4	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:30033178A>T	ENST00000328224.6	-	2	2281	c.1048T>A	c.(1048-1050)Ttg>Atg	p.L350M	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	350					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCATTCAACAACCCACCATGC	0.478																																						uc021qfi.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1048-1050)Ttg>Atg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							84	77	80					11																	30033178		2024	4188	6212	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033178A>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1048T>A	11.37:g.30033178A>T	ENSP00000328511:p.Leu350Met					KCNA4_uc001msk.3_Missense_Mutation_p.L350M	p.L350M	NM_002233	NP_002224	P22459	KCNA4_HUMAN			0	1048	-			350						Missense_Mutation	SNP	ENST00000328224.6	37	c.1048T>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	A	2.272	-0.366836	0.05069	.	.	ENSG00000182255	ENST00000328224	D	0.96856	-4.15	5.43	-3.6	0.04570	.	6.471320	0.00166	N	0.000002	D	0.91136	0.7209	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82458	-0.0447	10	0.44086	T	0.13	.	4.7225	0.12926	0.1634:0.1145:0.5121:0.21	.	350	P22459	KCNA4_HUMAN	M	350	ENSP00000328511:L350M	ENSP00000328511:L350M	L	-	1	2	KCNA4	29989754	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.452000	0.06787	-0.183000	0.10585	-0.250000	0.11733	TTG		0.478	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		T	30033178	A	T	30033178	3	4	211	1	0	0	0	0	1	0	0	0	8005	40	2	5	917	5	KCNA4	11	30033178	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	15534692	30033178	104973338	49	14780											
LRP4	4038	broad.mit.edu	37	chr11	46900805	46900805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctgccagtcagtccaaTagatgcgctctccatagagg	9	10	11	11	1	3	2	1	0	2	2	5	2	4	2	3	2	2	1	3	2	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:46900805T>C	ENST00000378623.1	-	21	3118	c.2876A>G	c.(2875-2877)tAt>tGt	p.Y959C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	959					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCAGTCCAATAGATGCGCTC	0.567																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2875-2877)tAt>tGt		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.							73	74	73					11																	46900805		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46900805T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2876A>G	11.37:g.46900805T>C	ENSP00000367888:p.Tyr959Cys						p.Y959C	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	20	3119	-			959					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2876A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228125	0.79576	.	.	ENSG00000134569	ENST00000378623	D	0.99304	-5.72	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.95611	3.695	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98335	1.0535	10	0.87932	D	0	.	11.6354	0.51200	0.133:0.0:0.0:0.867	.	959	O75096	LRP4_HUMAN	C	959	ENSP00000367888:Y959C	ENSP00000367888:Y959C	Y	-	2	0	LRP4	46857381	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.124000	0.71620	2.217000	0.71921	0.379000	0.24179	TAT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		C	46900805	T	C	46900805	3	2	211	1	0	0	0	0	1	0	0	0	8959	1406	49	4	2913	4	LRP4	11	46900805	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	16867627	46900805	88105711	50	14781											
MS4A15	219995	broad.mit.edu	37	chr11	60531221	60531221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgatgtctgcagctccCgccagcaatggagtgtttgt	8	10	12	11	2	1	0	0	0	1	0	2	2	2	1	2	1	4	5	2	1	1	1	rs372949576		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:60531221C>T	ENST00000405633.3	+	2	94	c.15C>T	c.(13-15)ccC>ccT	p.P5P	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Silent_p.P5P	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	5						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CTGCAGCTCCCGCCAGCAATG	0.527																																						uc009ynf.1																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(13-15)ccC>ccT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.		C	,	0,4086		0,0,2043	86	85	85		15,	-4.2	0.2	11		85	1,8375		0,1,4187	no	coding-synonymous,intron	MS4A15	NM_001098835.1,NM_152717.2	,	0,1,6230	TT,TC,CC		0.0119,0.0,0.0080	,	5/241,	60531221	1,12461	2043	4188	6231	SO:0001819	synonymous_variant	219995					integral to membrane	receptor activity	g.chr11:60531221C>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.15C>T	11.37:g.60531221C>T						MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.P5P	p.P5P	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN			1	235	+			5					A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	ENST00000405633.3	37	c.15C>T	CCDS44617.1																																																																																				0.527	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			T	60531221	C	T	60531221	2	4	211	1	0	0	0	0	0	0	0	1	9859	639	23	2		2	MS4A15	11	60531221	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13630416	60531221	74475295	51	14782											
PGA5	5222	broad.mit.edu	37	chr11	61018718	61018718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttaccgtcttcgacaggGcaaacaaccaggtcggcctg	10	8	10	13	3	1	0	0	0	1	0	3	1	1	0	3	3	3	1	3	3	3	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:61018718G>A	ENST00000312403.5	+	9	1317	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	PGA5_ENST00000541528.1_Missense_Mutation_p.A118T|PGA5_ENST00000451616.2_Missense_Mutation_p.A224T|PGA4_ENST00000422676.2_Missense_Mutation_p.A378T|CTD-2331C18.5_ENST00000537594.1_RNA	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	378					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						CTTCGACAGGGCAAACAACCA	0.557																																						uc001nqz.3																			0				large_intestine(1)|skin(1)	2						c.(1132-1134)Gca>Aca		Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.							140	138	138					11																	61018718		2202	4299	6501	SO:0001583	missense	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61018718G>A	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1132G>A	11.37:g.61018718G>A	ENSP00000309542:p.Ala378Thr						p.A378T	NM_014224	NP_055039	P00790	PEPA_HUMAN			8	1187	+			378					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000312403.5	37	c.1132G>A	CCDS8001.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663179	0.67700	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	2.78	2.78	0.32641	.	0.627594	0.14532	U	0.313782	T	0.51736	0.1692	L	0.60845	1.875	0.22096	N	0.999362	B	0.27286	0.174	B	0.29862	0.108	T	0.51180	-0.8738	10	0.62326	D	0.03	.	7.7238	0.28748	0.126:0.0:0.874:0.0	.	378	B7ZW62	.	T	378;378;239;224;118	ENSP00000395402:A378T;ENSP00000309542:A378T;ENSP00000408739:A224T;ENSP00000441981:A118T	ENSP00000395402:A378T	A	+	1	0	PGA4;PGA5	60775294	0.379000	0.25123	0.020000	0.16555	0.846000	0.48090	3.512000	0.53407	1.918000	0.55548	0.420000	0.28162	GCA		0.557	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224		A	61018718	G	A	61018718	3	1	211	1	0	0	0	0	1	0	0	0	11772	1203	42	3	1166	3	PGA5	11	61018718	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	487497	61018718	73987798	52	14783											
MMP27	64066	broad.mit.edu	37	chr11	102573550	102573550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accacccagacccggaccagGaggaaaggcatggccaagca	14	1	12	14	1	0	1	0	0	0	1	0	4	0	4	5	5	1	2	5	5	2	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:102573550G>A	ENST00000260229.4	-	4	644	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	185					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CCCGGACCAGGAGGAAAGGCA	0.458																																						uc001phd.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(553-555)Cct>Tct		Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.							83	87	85					11																	102573550		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102573550G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.553C>T	11.37:g.102573550G>A	ENSP00000260229:p.Pro185Ser						p.P185S	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	3	576	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	185					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.553C>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078797	0.94050	.	.	ENSG00000137675	ENST00000260229	T	0.29917	1.55	5.7	5.7	0.88788	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.72431	0.3459	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82639	-0.0358	10	0.87932	D	0	.	19.8201	0.96590	0.0:0.0:1.0:0.0	.	185	Q9H306	MMP27_HUMAN	S	185	ENSP00000260229:P185S	ENSP00000260229:P185S	P	-	1	0	MMP27	102078760	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.693000	0.91896	0.563000	0.77884	CCT		0.458	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102573550	G	A	102573550	3	1	211	1	0	0	0	0	1	0	0	0	9664	1174	41	3	1016	3	MMP27	11	102573550	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	41554832	102573550	32432966	53	14784											
DSCAML1	57453	broad.mit.edu	37	chr11	117342628	117342628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccttgcttggttcactgCggccaatcttgttgaaagag	7	13	11	10	1	2	2	1	1	1	1	3	2	3	2	2	2	2	4	2	2	2	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:117342628C>T	ENST00000321322.6	-	15	3090	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R760H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	970	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTTCACTGCGGCCAATCTT	0.587																																						uc001prh.1																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3088-3090)cGc>cAc		Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.							159	137	145					11																	117342628		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117342628C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3089G>A	11.37:g.117342628C>T	ENSP00000315465:p.Arg1030His						p.R1030H	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	14	3091	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	970			Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3089G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555274	0.65425	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57436	0.4;0.4	4.07	4.07	0.47477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56891	0.2016	L	0.48642	1.525	0.49389	D	0.999787	P	0.48834	0.916	P	0.50860	0.652	T	0.60342	-0.7282	9	0.46703	T	0.11	.	16.4552	0.84009	0.0:1.0:0.0:0.0	.	970	Q8TD84	DSCL1_HUMAN	H	760;1030;737	ENSP00000434335:R760H;ENSP00000315465:R1030H	ENSP00000315465:R1030H	R	-	2	0	DSCAML1	116847838	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.587000	0.36622	2.075000	0.62263	0.455000	0.32223	CGC		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117342628	C	T	117342628	3	4	211	1	0	0	0	0	1	0	0	0	4769	768	27	1	3328	1	DSCAML1	11	117342628	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	14769078	117342628	17663888	54	14785											
DPPA3	359787	broad.mit.edu	37	chr12	7869602	7869602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccctgcagtttctgcGtgtctaatggatgggatcct	7	14	11	9	1	2	0	0	0	2	0	4	2	4	2	2	2	2	2	2	2	2	2	rs571145972		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:7869602G>A	ENST00000345088.2	+	4	526	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	137					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.V137M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGTTTCTGCGTGTCTAATGG	0.378													G|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					uc001qtf.3																			1	Substitution - Missense(1)	p.V137M(2)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(409-411)Gtg>Atg		Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.							92	97	95					12																	7869602		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7869602G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.409G>A	12.37:g.7869602G>A	ENSP00000339250:p.Val137Met						p.V137M	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	3	487	+			137					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.409G>A	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	2.024	-0.423942	0.04734	.	.	ENSG00000187569	ENST00000345088	T	0.45276	0.9	2.45	-0.626	0.11544	.	.	.	.	.	T	0.28764	0.0713	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.49683	0.619	T	0.16482	-1.0401	9	0.41790	T	0.15	.	5.7928	0.18369	0.1712:0.5325:0.2963:0.0	.	137	Q6W0C5	DPPA3_HUMAN	M	137	ENSP00000339250:V137M	ENSP00000339250:V137M	V	+	1	0	DPPA3	7760869	0.022000	0.18835	0.000000	0.03702	0.008000	0.06430	-0.121000	0.10643	-0.160000	0.11002	-0.448000	0.05591	GTG		0.378	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		A	7869602	G	A	7869602	3	1	211	1	0	0	0	0	1	0	0	0	4735	1145	40	1	423	1	DPPA3	12	7869602	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		7869602	125982293	55	14786											
CLEC4E	26253	broad.mit.edu	37	chr12	8689778	8689778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttctttaaacttaacGcccaggaaatggtgtcagta	13	11	9	8	1	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	5	5	rs201571010		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:8689778G>A	ENST00000299663.3	-	4	470	c.305C>T	c.(304-306)gCg>gTg	p.A102V	CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TAAACTTAACGCCCAGGAAAT	0.458																																						uc001quo.1																			0		p.W101C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(304-306)gCg>gTg		Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.							92	88	90					12																	8689778		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8689778G>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"C-type lectin domain containing"	14555	protein-coding gene	gene with protein product		609962	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.305C>T	12.37:g.8689778G>A	ENSP00000299663:p.Ala102Val						p.A102V	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			3	470	-	Lung SC(5;0.184)		102			C-type lectin.		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.305C>T	CCDS8594.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	1.813|1.813	-0.474098|-0.474098	0.04414|0.04414	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000299663|ENST00000537698	T|.	0.61742|.	0.08|.	5.23|5.23	0.096|0.096	0.14488|0.14488	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	1.894880|.	0.02358|.	N|.	0.076622|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	10|5	0.29301|.	T|.	0.29|.	.|.	1.6067|1.6067	0.02685|0.02685	0.2418:0.1407:0.4725:0.145|0.2418:0.1407:0.4725:0.145	.|.	102|.	Q9ULY5|.	CLC4E_HUMAN|.	V|C	102|42	ENSP00000299663:A102V|.	ENSP00000299663:A102V|.	A|R	-|-	2|1	0|0	CLEC4E|CLEC4E	8581045|8581045	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.029000|0.029000	0.13666|0.13666	-0.066000|-0.066000	0.12998|0.12998	-0.216000|-0.216000	0.12614|0.12614	GCG|CGT		0.458	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		A	8689778	G	A	8689778	3	1	211	1	0	0	0	0	1	0	0	0	3515	1087	38	1	366	1	CLEC4E	12	8689778	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	820176	8689778	125162117	56	14787											
ABCC9	10060	broad.mit.edu	37	chr12	21991021	21991021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttactcacctaaaggccCgaatggtggtgagtccttct	8	13	10	10	1	2	1	1	1	1	0	3	2	3	1	3	3	1	1	3	3	4	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:21991021C>T	ENST00000261201.4	-	28	3556	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1150Q|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1186Q|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1186	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1186L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCTAAAGGCCCGAATGGTGGT	0.423																																						uc001rfh.3																			2	Substitution - Missense(2)	p.R1186L(3)	lung(2)	NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3556-3558)cGg>cAg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						108	107	107					12																	21991021		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21991021C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3557G>A	12.37:g.21991021C>T	ENSP00000261201:p.Arg1186Gln					ABCC9_uc001rfi.1_Missense_Mutation_p.R1186Q	p.R1186Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN			27	3577	-			1186			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3557G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416048	0.96092	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.31	5.31	0.75309	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.95645	3.7	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.99075	1.0835	10	0.87932	D	0	-15.0723	19.1802	0.93620	0.0:1.0:0.0:0.0	.	1186;1186	O60706;O60706-2	ABCC9_HUMAN;.	Q	1186;813;1186;1150	ENSP00000261200:R1186Q;ENSP00000440521:R813Q;ENSP00000261201:R1186Q;ENSP00000261202:R1150Q	ENSP00000261200:R1186Q	R	-	2	0	ABCC9	21882288	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.638000	0.83328	2.748000	0.94277	0.650000	0.86243	CGG		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21991021	C	T	21991021	3	4	211	1	0	0	0	0	1	0	0	0	59	652	23	2	1278	2	ABCC9	12	21991021	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	13301243	21991021	111860874	57	14788											
ADCY6	112	broad.mit.edu	37	chr12	49164592	49164592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtgctcattgatgtgCttcatctgctccatgagccg	8	12	11	10	1	3	2	2	2	1	0	4	3	4	3	2	1	4	3	2	1	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49164592C>T	ENST00000307885.4	-	19	3907	c.3213G>A	c.(3211-3213)aaG>aaA	p.K1071K	ADCY6_ENST00000550422.1_Silent_p.K1018K|ADCY6_ENST00000357869.3_Silent_p.K1018K|MIR4701_ENST00000583094.1_RNA	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1071					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGATGTGCTTCATCTGCT	0.552																																						uc001rsh.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(3211-3213)aaG>aaA		Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.							121	115	117					12																	49164592		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49164592C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3213G>A	12.37:g.49164592C>T						ADCY6_uc001rsi.4_Silent_p.K1018K|ADCY6_uc001rsj.4_Silent_p.K1071K|ADCY6_uc010slw.1_3'UTR	p.K1071K	NM_015270	NP_056085	O43306	ADCY6_HUMAN			18	3873	-			1071					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.3213G>A	CCDS8767.1																																																																																				0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		T	49164592	C	T	49164592	2	4	211	1	0	0	0	0	0	0	0	1	298	796	28	3		3	ADCY6	12	49164592	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	27173571	49164592	84687303	58	14789											
CACNB3	784	broad.mit.edu	37	chr12	49221583	49221583	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctgcctagtgctaacggGcatgacccccaagaccggct	8	6	13	14	2	0	2	0	1	0	1	0	2	0	2	4	3	3	4	4	3	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49221583G>A	ENST00000301050.2	+	13	1555	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_ENST00000540990.1_Silent_p.G439G|CACNB3_ENST00000536187.2_Silent_p.G451G|CACNB3_ENST00000547230.1_Silent_p.G411G|CACNB3_ENST00000547392.1_Silent_p.G425G	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	452					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(1354-1356)ggG>ggA		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						88	82	84					12																	49221583		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221583G>A		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1356G>A	12.37:g.49221583G>A						CACNB3_uc010sly.2_Silent_p.G439G|CACNB3_uc010slz.2_Silent_p.G451G|CACNB3_uc001rsk.2_Silent_p.G299G|CACNB3_uc021qxm.1_Silent_p.G411G	p.G452G	NM_000725	NP_000716	P54284	CACB3_HUMAN			12	1815	+			452					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.1356G>A	CCDS8769.1																																																																																				0.622	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			A	49221583	G	A	49221583	2	1	211	1	0	0	0	0	0	0	0	1	2554	1190	42	3		3	CACNB3	12	49221583	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	56991	49221583	84630312	59	14790											
TUBA1B	10376	broad.mit.edu	37	chr12	49523423	49523423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggccatcgggctggatgCcgtgttccaggcagtagagc	6	9	15	11	2	1	1	0	0	1	1	3	2	2	2	3	4	2	4	3	4	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49523423C>T	ENST00000336023.5	-	2	180	c.86G>A	c.(85-87)gGc>gAc	p.G29D	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	29					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGGCTGGATGCCGTGTTCCAG	0.582																																						uc001rtm.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.(85-87)gGc>gAc		Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.							80	73	76					12																	49523423		2203	4296	6499	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523423C>T	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.86G>A	12.37:g.49523423C>T	ENSP00000336799:p.Gly29Asp					TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_5'UTR	p.G29D	NM_006082	NP_006073	P68363	TBA1B_HUMAN			1	307	-			29					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.86G>A	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	c	13.10	2.136803	0.37728	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.70869	-0.52;-0.52	4.95	4.95	0.65309	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.46145	U	0.000308	D	0.89560	0.6750	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93142	0.6542	10	0.72032	D	0.01	.	16.9469	0.86232	0.0:1.0:0.0:0.0	.	29	P68363	TBA1B_HUMAN	D	29	ENSP00000336799:G29D;ENSP00000449325:G29D	ENSP00000336799:G29D	G	-	2	0	TUBA1B	47809690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.747000	0.85070	2.283000	0.76528	0.655000	0.94253	GGC		0.582	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		T	49523423	C	T	49523423	3	4	211	1	0	0	0	0	1	0	0	0	16741	739	26	3	1281	3	TUBA1B	12	49523423	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	301840	49523423	84328472	60	14791											
KRT1	3848	broad.mit.edu	37	chr12	53072002	53072002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttgttgatttcatccTcatacctgcaggaaagcaga	10	12	8	11	1	2	2	2	1	0	1	4	3	4	3	3	1	3	4	3	1	2	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:53072002T>C	ENST00000252244.3	-	3	870	c.812A>G	c.(811-813)gAg>gGg	p.E271G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	271	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATTTCATCCTCATACCTGCA	0.403																																						uc001sau.1																			0		p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(811-813)gAg>gGg		Homo sapiens keratin 1 (KRT1), mRNA.							122	98	106					12																	53072002		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53072002T>C	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.812A>G	12.37:g.53072002T>C	ENSP00000252244:p.Glu271Gly					KRT1_uc001sav.1_Missense_Mutation_p.E271G	p.E271G	NM_006121	NP_006112	P04264	K2C1_HUMAN			2	871	-			271			Coil 1B.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.812A>G	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439340	0.83885	.	.	ENSG00000167768	ENST00000252244	D	0.90004	-2.6	5.17	5.17	0.71159	Filament (1);	.	.	.	.	D	0.96790	0.8952	H	0.98525	4.255	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.98429	1.0581	9	0.87932	D	0	.	15.3165	0.74085	0.0:0.0:0.0:1.0	.	271	P04264	K2C1_HUMAN	G	271	ENSP00000252244:E271G	ENSP00000252244:E271G	E	-	2	0	KRT1	51358269	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.037000	0.88933	2.084000	0.62774	0.533000	0.62120	GAG		0.403	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		C	53072002	T	C	53072002	3	2	211	1	0	0	0	0	1	0	0	0	8447	1551	54	4	1150	4	KRT1	12	53072002	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	3548579	53072002	80779893	61	14792											
TRHDE	29953	broad.mit.edu	37	chr12	73046818	73046818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatctgtcactgaatTctgaggtggtgctggatcaa	10	14	10	7	0	5	2	2	2	3	0	5	3	5	3	0	3	1	1	0	3	4	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:73046818T>A	ENST00000261180.4	+	17	2827	c.2731T>A	c.(2731-2733)Tct>Act	p.S911T		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	911					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTCACTGAATTCTGAGGTGGT	0.343																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2731-2733)Tct>Act		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							78	77	78					12																	73046818		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046818T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2731T>A	12.37:g.73046818T>A	ENSP00000261180:p.Ser911Thr						p.S911T	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			16	2761	+			911					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2731T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731181	0.69189	.	.	ENSG00000072657	ENST00000261180	T	0.05786	3.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.39514	1.22	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.10268	-1.0637	10	0.21540	T	0.41	.	15.5533	0.76170	0.0:0.0:0.0:1.0	.	911	Q9UKU6	TRHDE_HUMAN	T	911	ENSP00000261180:S911T	ENSP00000261180:S911T	S	+	1	0	TRHDE	71333085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.087000	0.62958	0.533000	0.62120	TCT		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	73046818	T	A	73046818	3	1	211	1	0	0	0	0	1	0	0	0	16476	1783	62	5	2797	5	TRHDE	12	73046818	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	19974816	73046818	60805077	62	14793											
NUDT4	11163	broad.mit.edu	37	chr12	93792556	93792556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcaagcagaaccaagacCgaaagcacagaacatatgtt	18	7	7	9	1	1	3	1	0	0	3	1	4	1	3	2	0	4	3	2	0	7	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:93792556C>T	ENST00000415493.2	+	4	692	c.265C>T	c.(265-267)Cga>Tga	p.R89*	NUDT4_ENST00000548662.1_Nonsense_Mutation_p.R37*|NUDT4_ENST00000337179.5_Nonsense_Mutation_p.R90*|NUDT4_ENST00000547014.1_Nonsense_Mutation_p.R38*|NUDT4_ENST00000549992.1_Nonsense_Mutation_p.R37*	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	89	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.|Substrate binding. {ECO:0000250}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						GAACCAAGACCGAAAGCACAG	0.343																																						uc010sup.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(268-270)Cga>Tga		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.							93	91	92					12																	93792556		2203	4300	6503	SO:0001587	stop_gained	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93792556C>T	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"Nudix motif containing"	8051	protein-coding gene	gene with protein product	"diphosphoinositol polyphosphate phosphohydrolase type 2"	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.265C>T	12.37:g.93792556C>T	ENSP00000406612:p.Arg89*					NUDT4_uc001tcm.3_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.3_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.2_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.3_Nonsense_Mutation_p.R37*	p.R90*	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN			3	666	+			89			Nudix hydrolase.|Substrate binding (By similarity).		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Nonsense_Mutation	SNP	ENST00000415493.2	37	c.268C>T	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851048	0.97023	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000550056;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	.	.	.	5.23	5.23	0.72850	.	0.055271	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.6654	14.0527	0.64747	0.1509:0.8491:0.0:0.0	.	.	.	.	X	90;89;37;37;37;38;37	.	ENSP00000338352:R90X	R	+	1	2	NUDT4	92316687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.616000	0.36933	2.587000	0.87381	0.561000	0.74099	CGA		0.343	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		T	93792556	C	T	93792556	4	4	211	1	0	0	0	0	0	1	0	0	10741	644	23	2	282	2	NUDT4	12	93792556	Nonsense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	20745738	93792556	40059339	63	14794											
MTERFD3	80298	broad.mit.edu	37	chr12	107371336	107371336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacaacagtcagtatgtCattcttcaacatttaatggt	14	13	6	8	0	4	0	3	0	1	0	4	0	4	0	0	1	4	2	0	1	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:107371336C>T	ENST00000552029.1	-	2	3225	c.1157G>A	c.(1156-1158)tGa>tAa	p.*386*	MTERFD3_ENST00000392830.2_Silent_p.*386*|MTERFD3_ENST00000240050.4_Silent_p.*386*|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCAGTATGTCATTCTTCAAC	0.358																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1156-1158)tGa>tAa		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.							87	85	86					12																	107371336		2202	4300	6502	SO:0001819	synonymous_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371336C>T																												ENST00000552029.1:c.1157G>A	12.37:g.107371336C>T						MTERFD3_uc001tmf.1_Silent_p.*386*|MTERFD3_uc001tmg.1_Silent_p.*386*|MTERFD3_uc021rdh.1_Splice_Site_p.*386_splice|MTERFD3_uc001tmh.1_Splice_Site	p.*386*	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			1	2976	-			0					Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	c.1157G>A	CCDS9111.1																																																																																				0.358	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			T	107371336	C	T	107371336	2	4	211	1	0	0	0	0	0	0	0	1	9921	837	29	3		3	MTERFD3	12	107371336	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13578780	107371336	26480559	64	14795											
WSCD2	9671	broad.mit.edu	37	chr12	108603986	108603986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgagcgaggcagagtgcGacatggagtgcaagggcgag	11	4	19	7	4	0	2	0	1	0	1	0	6	0	3	0	3	3	2	0	3	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:108603986G>A	ENST00000332082.4	+	5	1404	c.586G>A	c.(586-588)Gac>Aac	p.D196N	WSCD2_ENST00000549903.1_Missense_Mutation_p.D196N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D196N|WSCD2_ENST00000547525.1_Missense_Mutation_p.D196N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	196	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAGAGTGCGACATGGAGTG	0.682																																						uc001tms.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(586-588)Gac>Aac		Homo sapiens WSC domain containing 2 (WSCD2), mRNA.							30	37	35					12																	108603986		2202	4296	6498	SO:0001583	missense	9671					integral to membrane		g.chr12:108603986G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.586G>A	12.37:g.108603986G>A	ENSP00000331933:p.Asp196Asn					WSCD2_uc001tmt.3_Missense_Mutation_p.D196N	p.D196N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			3	1330	+			196			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.586G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	9.532	1.111142	0.20714	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.12	4.1	0.47936	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.194437	0.52532	D	0.000071	T	0.09512	0.0234	N	0.00223	-1.815	0.33700	D	0.614425	B	0.02656	0.0	B	0.04013	0.001	T	0.38286	-0.9668	10	0.02654	T	1	-41.0544	3.9934	0.09548	0.3227:0.0:0.6773:0.0	.	196	Q2TBF2	WSCD2_HUMAN	N	196;196;43;196;196	ENSP00000448047:D196N;ENSP00000261400:D196N;ENSP00000446744:D43N;ENSP00000331933:D196N;ENSP00000447272:D196N	ENSP00000261400:D196N	D	+	1	0	WSCD2	107128116	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.875000	0.75551	2.379000	0.81126	0.555000	0.69702	GAC		0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		A	108603986	G	A	108603986	3	1	211	1	0	0	0	0	1	0	0	0	17404	1058	37	2	596	2	WSCD2	12	108603986	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	1232650	108603986	25247909	65	14796											
TUBA3C	7278	broad.mit.edu	37	chr13	19752451	19752451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgtaatggcctctggCgtaattattggccgcatctt	7	14	12	8	2	2	0	0	0	2	0	2	1	2	0	2	4	0	3	2	4	3	5	rs145210942		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:19752451C>T	ENST00000400113.3	-	3	414	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	104					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGCCTCTGGCGTAATTATTG	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		21498	0		0	False		,,,				2504	0					uc009zzj.3																			0		p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(310-312)Gcc>Acc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.		C	THR/ALA	0,4406		0,0,2203	210	177	188		310	0.6	1	13	dbSNP_134	188	3,8597	3.0+/-9.4	0,3,4297	no	missense	TUBA3C	NM_006001.2	58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	104/451	19752451	3,13003	2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752451C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.310G>A	13.37:g.19752451C>T	ENSP00000382982:p.Ala104Thr						p.A104T	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	415	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	104					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.310G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	11.68	1.710514	0.30322	0.0	3.49E-4	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.73681	-0.77	1.53	0.64	0.17752	.	0.000000	0.46758	U	0.000267	T	0.75443	0.3850	.	.	.	0.40388	D	0.979516	.	.	.	.	.	.	T	0.73216	-0.4053	7	0.87932	D	0	.	6.1161	0.20127	0.0:0.8145:0.0:0.1855	.	.	.	.	T	104	ENSP00000382982:A104T	ENSP00000354037:A104T	A	-	1	0	TUBA3C	18650451	1.000000	0.71417	0.959000	0.39883	0.923000	0.55619	4.690000	0.61731	0.203000	0.20529	0.423000	0.28283	GCC		0.532	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19752451	C	T	19752451	3	4	211	1	0	0	0	0	1	0	0	0	16743	768	27	1	1054	1	TUBA3C	13	19752451	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		19752451	95417427	66	14797											
FLT3	2322	broad.mit.edu	37	chr13	28636176	28636176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctctggggtctcaacgCacacccgaggtcttccgggg	6	8	14	13	3	3	1	1	1	3	0	5	2	4	1	2	5	2	2	2	5	1	1	rs572460566		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:28636176C>T	ENST00000241453.7	-	3	277	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	FLT3_ENST00000380982.4_Missense_Mutation_p.A66T|FLT3_ENST00000537084.1_Missense_Mutation_p.A66T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	66					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTCAACGCACACCCGAGG	0.532			"Mis, O"		"AML, ALL"																																	uc001urw.3				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0		p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(196-198)Gcg>Acg		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						91	91	91					13																	28636176		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636176C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.196G>A	13.37:g.28636176C>T	ENSP00000241453:p.Ala66Thr					FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.A66T	p.A66T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	2	278	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	66					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.196G>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	4.805	0.149761	0.09185	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77620	-1.05;-1.11;-0.84	5.78	2.18	0.27775	.	0.840124	0.10723	N	0.641475	T	0.56949	0.2020	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.36744	-0.9735	10	0.12430	T	0.62	.	1.7797	0.03029	0.2588:0.4815:0.1158:0.1438	.	66;66	P36888-2;P36888	.;FLT3_HUMAN	T	66	ENSP00000241453:A66T;ENSP00000370369:A66T;ENSP00000438139:A66T	ENSP00000241453:A66T	A	-	1	0	FLT3	27534176	0.004000	0.15560	0.100000	0.21137	0.361000	0.29550	0.374000	0.20501	0.158000	0.19367	0.557000	0.71058	GCG		0.532	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			T	28636176	C	T	28636176	3	4	211	1	0	0	0	0	1	0	0	0	5942	710	25	3	2873	3	FLT3	13	28636176	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	8883725	28636176	86533702	67	14798											
SUCLA2	8803	broad.mit.edu	37	chr13	48571116	48571116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgctgttgctgctgtaCttggagtccatggttattaa	6	17	10	8	0	0	0	0	0	0	0	1	1	1	1	2	2	4	6	2	2	3	6			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:48571116C>T	ENST00000378654.3	-	2	189	c.133G>A	c.(133-135)Gta>Ata	p.V45I	SUCLA2_ENST00000534875.1_5'UTR|SUCLA2_ENST00000543413.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	45					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TGCTGCTGTACTTGGAGTCCA	0.403																																						uc001vbs.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(133-135)Gta>Ata		Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						81	76	77					13																	48571116		2203	4298	6501	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48571116C>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.133G>A	13.37:g.48571116C>T	ENSP00000367923:p.Val45Ile					SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	p.V45I	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	1	190	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	45					B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.133G>A	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	12.86	2.064888	0.36470	.	.	ENSG00000136143	ENST00000378654	T	0.68331	-0.32	5.63	-3.65	0.04502	.	0.804280	0.11767	N	0.531533	T	0.43787	0.1263	N	0.19112	0.55	0.33771	D	0.623097	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32188	-0.9916	10	0.21014	T	0.42	-4.276	8.9334	0.35684	0.0:0.4987:0.1:0.4014	.	45;45	E5KS55;Q9P2R7	.;SUCB1_HUMAN	I	45	ENSP00000367923:V45I	ENSP00000367923:V45I	V	-	1	0	SUCLA2	47469117	0.458000	0.25760	0.909000	0.35828	0.985000	0.73830	0.050000	0.14120	-0.611000	0.05709	0.591000	0.81541	GTA		0.403	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			T	48571116	C	T	48571116	3	4	211	1	0	0	0	0	1	0	0	0	15362	565	20	3	1298	3	SUCLA2	13	48571116	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	19934940	48571116	66598762	68	14799											
KLF5	688	broad.mit.edu	37	chr13	73636601	73636601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccttgcacatacacaatGccaagtcagtttcttccaca	11	10	4	16	0	2	0	1	0	1	0	3	0	3	0	4	0	3	2	4	0	3	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:73636601G>A	ENST00000377687.4	+	2	1400	c.864G>A	c.(862-864)atG>atA	p.M288I	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.M197I	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	288					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CATACACAATGCCAAGTCAGT	0.522																																						uc001vje.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(862-864)atG>atA		Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.							115	97	103					13																	73636601		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636601G>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.864G>A	13.37:g.73636601G>A	ENSP00000366915:p.Met288Ile					KLF5_uc001vjd.3_Missense_Mutation_p.M197I	p.M288I	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	1	1188	+		Prostate(6;0.00187)|Breast(118;0.0735)	288					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.864G>A	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548828	0.27652	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.06608	3.45;3.28	5.83	4.96	0.65561	.	0.193377	0.56097	D	0.000027	T	0.05227	0.0139	N	0.15975	0.35	0.44995	D	0.998016	B	0.02656	0.0	B	0.06405	0.002	T	0.40720	-0.9548	10	0.31617	T	0.26	.	16.05	0.80749	0.0:0.0:0.8648:0.1352	.	288	Q13887	KLF5_HUMAN	I	197;288;268	ENSP00000440407:M197I;ENSP00000366915:M288I	ENSP00000366915:M288I	M	+	3	0	KLF5	72534602	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.127000	0.50484	1.394000	0.46624	0.561000	0.74099	ATG		0.522	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			A	73636601	G	A	73636601	3	1	211	1	0	0	0	0	1	0	0	0	8349	1319	46	3	870	3	KLF5	13	73636601	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	25065485	73636601	41533277	69	14800											
FOXG1	2290	broad.mit.edu	37	chr14	29237185	29237185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatccgccacaatctgTccctcaacaagtgcttcgtg	9	10	6	16	2	2	0	1	0	1	0	6	0	5	0	4	0	2	1	4	0	3	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:29237185T>G	ENST00000313071.4	+	1	899	c.700T>G	c.(700-702)Tcc>Gcc	p.S234A	FOXG1_ENST00000382535.3_Missense_Mutation_p.S234A|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	234					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCACAATCTGTCCCTCAACAA	0.587																																						uc001wqe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(700-702)Tcc>Gcc		Homo sapiens forkhead box G1 (FOXG1), mRNA.							48	48	48					14																	29237185		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237185T>G		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.700T>G	14.37:g.29237185T>G	ENSP00000339004:p.Ser234Ala						p.S234A	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	0	899	+			234					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.700T>G	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860759	0.71834	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.97378	-4.36;-4.36	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.263995	0.33553	U	0.004796	D	0.98642	0.9545	H	0.95043	3.615	0.58432	D	0.999994	D	0.64830	0.994	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	8.2881	0.31941	0.1771:0.0:0.0:0.8229	.	234	P55316	FOXG1_HUMAN	A	234	ENSP00000371975:S234A;ENSP00000339004:S234A	ENSP00000339004:S234A	S	+	1	0	FOXG1	28306936	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.408000	0.73285	1.446000	0.47643	0.254000	0.18369	TCC		0.587	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			G	29237185	T	G	29237185	3	3	211	1	0	0	0	0	1	0	0	0	6007	1667	58	5	702	5	FOXG1	14	29237185	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08		29237185	78112355	70	14801											
SIPA1L1	26037	broad.mit.edu	37	chr14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtacgatggggaccGcacagaatccgaactcaaca	14	5	12	10	3	1	1	1	0	0	1	2	5	2	2	2	3	3	2	2	3	5	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:72176033G>A	ENST00000555818.1	+	15	4271	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R762H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1308	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537																																						uc001xms.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3922-3924)cGc>cAc		Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.							117	91	100					14																	72176033		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72176033G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3923G>A	14.37:g.72176033G>A	ENSP00000450832:p.Arg1308His					SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H	p.R1308H	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	14	4284	+			1308			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3923G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431532	0.83776	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.79	4.9	0.64082	.	0.368176	0.32901	N	0.005506	T	0.63331	0.2502	L	0.40543	1.245	0.58432	D	0.999998	D;B;D;D;D	0.89917	0.996;0.001;0.989;0.999;1.0	P;B;P;D;D	0.74674	0.838;0.001;0.648;0.934;0.984	T	0.63395	-0.6647	10	0.44086	T	0.13	-13.6908	14.598	0.68419	0.0695:0.0:0.9305:0.0	.	762;1308;762;1287;1308	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1287;1308;1287;762	ENSP00000370630:R1287H;ENSP00000450832:R1308H;ENSP00000351352:R1287H;ENSP00000440682:R762H	ENSP00000351352:R1308H	R	+	2	0	SIPA1L1	71245786	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.822000	0.62686	1.453000	0.47775	0.655000	0.94253	CGC		0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72176033	G	A	72176033	3	1	211	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3977	1	SIPA1L1	14	72176033	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	42938848	72176033	35173507	71	14802											
AHNAK2	113146	broad.mit.edu	37	chr14	105413876	105413876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggctgtcacacccttgtCggccagggacaggtccccct	5	10	11	15	1	1	0	1	0	0	0	3	1	2	1	4	4	0	1	4	4	0	2	rs202164616	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:105413876C>T	ENST00000333244.5	-	7	8031	c.7912G>A	c.(7912-7914)Gac>Aac	p.D2638N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2638						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCCTTGTCGGCCAGGGAC	0.602													.|||	11	0.00219649	0.0083	0	5008	,	,		18969	0		0	False		,,,				2504	0					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7912-7914)Gac>Aac		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.		C	ASN/ASP	38,3918		3,32,1943	196	215	209		7912	3	0	14		209	0,8292		0,0,4146	no	missense	AHNAK2	NM_138420.2	23	3,32,6089	TT,TC,CC		0.0,0.9606,0.3103	probably-damaging	2638/5796	105413876	38,12210	1978	4146	6124	SO:0001583	missense	113146					nucleus		g.chr14:105413876C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7912G>A	14.37:g.105413876C>T	ENSP00000353114:p.Asp2638Asn					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	p.D2638N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	8032	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2638					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7912G>A	CCDS45177.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	c	18.32	3.598543	0.66332	0.009606	0.0	ENSG00000185567	ENST00000333244	T	0.01647	4.71	3.03	3.03	0.35002	.	.	.	.	.	T	0.02929	0.0087	M	0.82433	2.59	0.09310	N	1	D	0.56521	0.976	P	0.45998	0.5	T	0.37663	-0.9696	9	0.18276	T	0.48	.	11.2033	0.48754	0.0:1.0:0.0:0.0	.	2638	Q8IVF2	AHNK2_HUMAN	N	2638	ENSP00000353114:D2638N	ENSP00000353114:D2638N	D	-	1	0	AHNAK2	104484921	0.510000	0.26171	0.012000	0.15200	0.088000	0.18126	0.000000	0.12993	1.253000	0.44018	0.306000	0.20318	GAC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105413876	C	T	105413876	3	4	211	1	0	0	0	0	1	0	0	0	415	884	31	2	9479	2	AHNAK2	14	105413876	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	33237843	105413876	1935664	72	14803											
SPG11	80208	broad.mit.edu	37	chr15	44858195	44858195	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagtgctgggcctgtcGcacacaggagtcctgaggaa	9	7	14	11	1	0	2	0	2	0	0	2	4	1	4	2	3	1	2	2	3	1	0	rs312262785		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr15:44858195G>A	ENST00000261866.7	-	38	6872	c.6856C>T	c.(6856-6858)Cga>Tga	p.R2286*	SPG11_ENST00000535302.2_Nonsense_Mutation_p.R2173*|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2286					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGGCCTGTCGCACACAGGAG	0.532													G|||	1	0.000199681	0	0	5008	,	,		21127	0		0	False		,,,				2504	0.001					uc001ztx.3																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6856-6858)Cga>Tga		Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.							46	41	42					15																	44858195		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858195G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6856C>T	15.37:g.44858195G>A	ENSP00000261866:p.Arg2286*					SPG11_uc010bdw.3_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.2_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.2_Intron	p.R2286*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	37	6887	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2286					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.6856C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	47	13.358198	0.99737	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	.	.	.	5.9	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8302	0.78743	0.0:0.0:0.7991:0.2009	.	.	.	.	X	2286;2173	.	ENSP00000261866:R2286X	R	-	1	2	SPG11	42645487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.205000	0.72148	0.774000	0.33427	0.650000	0.86243	CGA		0.532	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44858195	G	A	44858195	4	1	211	1	0	0	0	0	0	1	0	0	15040	1095	38	1	487	1	SPG11	15	44858195	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		44858195	57673197	73	14804											
ACSM2A	123876	broad.mit.edu	37	chr16	20492203	20492203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccctgctgtggttgAgacggctgtgatcagcagcc	7	8	15	11	1	1	2	1	2	0	1	1	4	1	3	2	3	4	5	2	3	0	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:20492203A>T	ENST00000573854.1	+	12	1583	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	ACSM2A_ENST00000396104.2_Missense_Mutation_p.E490V|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E411V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E490V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E490V|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E262V	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	490					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGTGGTTGAGACGGCTGTG	0.562																																						uc010bwe.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1468-1470)gAg>gTg		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.							114	102	106					16																	20492203		2202	4299	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492203A>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1469A>T	16.37:g.20492203A>T	ENSP00000459451:p.Glu490Val					ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.4_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.4_Missense_Mutation_p.E490V|ACSM2A_uc010vay.2_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.4_Missense_Mutation_p.E120V	p.E490V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1708	+			490					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1469A>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744763	0.49151	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	3.26	3.26	0.37387	AMP-dependent synthetase/ligase (1);	0.289161	0.24202	N	0.040602	D	0.84624	0.5513	M	0.93241	3.395	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.83275	0.996;0.968	D	0.87562	0.2472	10	0.87932	D	0	-8.7215	11.6803	0.51453	1.0:0.0:0.0:0.0	.	411;490	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	411;490;262;490	ENSP00000392169:E411V;ENSP00000219054:E490V;ENSP00000445082:E262V;ENSP00000379411:E490V	ENSP00000219054:E490V	E	+	2	0	ACSM2A	20399704	1.000000	0.71417	0.076000	0.20297	0.353000	0.29299	7.275000	0.78548	1.277000	0.44412	0.240000	0.17902	GAG		0.562	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		T	20492203	A	T	20492203	3	4	211	1	0	0	0	0	1	0	0	0	183	304	11	5	1511	5	ACSM2A	16	20492203	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08		20492203	69862550	74	14805											
DNAH3	55567	broad.mit.edu	37	chr16	21128600	21128600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacaagtttttcttctgCgttaacagttccaaggagca	13	12	8	8	1	2	1	0	0	2	1	3	2	3	2	1	1	4	4	1	1	4	5	rs181679050	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:21128600C>T	ENST00000261383.3	-	12	1737	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A580T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	580	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTTCTTCTGCGTTAACAGTT	0.358													C|||	2	0.000399361	0.0015	0	5008	,	,		20741	0		0	False		,,,				2504	0					uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1738-1740)Gca>Aca		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		C	THR/ALA	4,4396	8.1+/-20.4	0,4,2196	74	69	71		1738	-10.8	0	16		71	0,8598		0,0,4299	yes	missense	DNAH3	NM_017539.1	58	0,4,6495	TT,TC,CC		0.0,0.0909,0.0308	benign	580/4117	21128600	4,12994	2200	4299	6499	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21128600C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1738G>A	16.37:g.21128600C>T	ENSP00000261383:p.Ala580Thr					DNAH3_uc002die.2_Missense_Mutation_p.A520T	p.A580T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	11	1738	-			580			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1738G>A	CCDS10594.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	0.680	-0.798546	0.02841	9.09E-4	0.0	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22134	1.97;2.13	5.39	-10.8	0.00216	.	1.806560	0.03121	N	0.163793	T	0.10809	0.0264	L	0.34521	1.04	0.09310	N	1	B;B	0.15141	0.003;0.012	B;B	0.09377	0.001;0.004	T	0.13255	-1.0516	10	0.14252	T	0.57	.	3.9504	0.09366	0.1118:0.3721:0.2311:0.285	.	580;520	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	580;580;520	ENSP00000261383:A580T;ENSP00000394245:A580T	ENSP00000261383:A580T	A	-	1	0	DNAH3	21036101	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.781000	0.01774	-3.555000	0.00142	-0.176000	0.13171	GCA		0.358	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21128600	C	T	21128600	3	4	211	1	0	0	0	0	1	0	0	0	4603	768	27	1	10815	1	DNAH3	16	21128600	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	636397	21128600	69226153	75	14806											
CHP2	63928	broad.mit.edu	37	chr16	23768582	23768582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggagaacatcgctgacCgcacggtgcaggaggctgat	10	6	15	10	3	0	3	0	2	0	1	1	5	0	4	1	4	3	5	1	4	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:23768582C>T	ENST00000300113.2	+	6	898	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	159	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CATCGCTGACCGCACGGTGCA	0.577																																						uc002dmb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(475-477)Cgc>Tgc		Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.							104	90	95					16																	23768582		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23768582C>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.475C>T	16.37:g.23768582C>T	ENSP00000300113:p.Arg159Cys						p.R159C	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	5	898	+			159			EF-hand 4.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.475C>T	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138256	0.77775	.	.	ENSG00000166869	ENST00000300113	T	0.31769	1.48	5.21	3.23	0.37069	EF-hand-like domain (1);	0.076113	0.52532	D	0.000074	T	0.61375	0.2342	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70163	-0.4947	10	0.87932	D	0	-20.066	12.6342	0.56675	0.3006:0.6994:0.0:0.0	.	159	O43745	CHP2_HUMAN	C	159	ENSP00000300113:R159C	ENSP00000300113:R159C	R	+	1	0	AC130454.2	23676083	0.960000	0.32886	0.987000	0.45799	0.888000	0.51559	0.914000	0.28624	0.874000	0.35823	0.655000	0.94253	CGC		0.577	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		T	23768582	C	T	23768582	3	4	211	1	0	0	0	0	1	0	0	0	3367	652	23	2	497	2	CHP2	16	23768582	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2639982	23768582	66586171	76	14807											
SLC38A7	55238	broad.mit.edu	37	chr16	58709937	58709937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcatgctgttgaagaCgggcacactgctgacgtggc	7	9	14	11	2	0	3	0	2	0	1	0	3	0	3	0	2	4	6	0	2	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:58709937C>T	ENST00000570101.1	-	7	1673	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	SLC38A7_ENST00000564010.1_Missense_Mutation_p.V175I|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Missense_Mutation_p.V264I|SLC38A7_ENST00000564100.1_Missense_Mutation_p.V264I			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	264					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTTGAAGACGGGCACACTG	0.572																																						uc002eod.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(790-792)Gtc>Atc		Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.							84	55	65					16																	58709937		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58709937C>T	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.790G>A	16.37:g.58709937C>T	ENSP00000454646:p.Val264Ile					SLC38A7_uc002eoc.1_Missense_Mutation_p.V264I|SLC38A7_uc010vil.1_Missense_Mutation_p.V175I|SLC38A7_uc002eoe.1_Missense_Mutation_p.V264I	p.V264I	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN			7	1183	-			264					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.790G>A	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017813	0.19355	.	.	ENSG00000103042	ENST00000219320	T	0.01335	5.0	5.94	4.94	0.65067	.	0.052317	0.85682	N	0.000000	T	0.01254	0.0041	N	0.17901	0.54	0.80722	D	1	B;B	0.30793	0.287;0.295	B;B	0.25506	0.047;0.061	T	0.68250	-0.5458	9	.	.	.	.	13.0213	0.58789	0.0:0.9166:0.0:0.0834	.	264;264	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	I	264	ENSP00000219320:V264I	.	V	-	1	0	SLC38A7	57267438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.543000	0.53633	1.392000	0.46585	0.561000	0.74099	GTC		0.572	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		T	58709937	C	T	58709937	3	4	211	1	0	0	0	0	1	0	0	0	14609	536	19	1	618	1	SLC38A7	16	58709937	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	34941355	58709937	31644816	77	14808											
ATP2A3	489	broad.mit.edu	37	chr17	3840720	3840720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcctcaccagacgacctCgccaacattggaggagatga	11	5	11	14	3	1	3	1	1	0	2	2	6	1	4	5	3	1	0	5	3	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:3840720C>T	ENST00000352011.3	-	15	2365	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	ATP2A3_ENST00000309890.7_Missense_Mutation_p.E771K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E771K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E771K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E771K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E771K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	771					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGACGACCTCGCCAACATTG	0.602																																					GBM(32;29 774 15719 37967)	uc002fwy.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2311-2313)Gag>Aag		Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.							88	61	70					17																	3840720		2203	4299	6502	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3840720C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2311G>A	17.37:g.3840720C>T	ENSP00000301387:p.Glu771Lys					ATP2A3_uc002fwz.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E771K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E771K	p.E771K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	2484	-			771					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.2311G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931035	0.92389	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	4.17	4.17	0.49024	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.993;0.983;0.993;0.993;0.993	D	0.98194	1.0464	10	0.87932	D	0	.	16.7406	0.85458	0.0:1.0:0.0:0.0	.	771;771;771;771;771;771	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	771	ENSP00000380236:E771K;ENSP00000301387:E771K;ENSP00000353072:E771K;ENSP00000380234:E771K;ENSP00000312577:E771K;ENSP00000380229:E771K	ENSP00000312577:E771K	E	-	1	0	ATP2A3	3787469	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.651000	0.83577	2.607000	0.88179	0.563000	0.77884	GAG		0.602	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3840720	C	T	3840720	3	4	211	1	0	0	0	0	1	0	0	0	1138	893	31	2	927	2	ATP2A3	17	3840720	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		3840720	77354490	78	14809											
C17orf59	54785	broad.mit.edu	37	chr17	8092644	8092645	+	Missense_Mutation	DNP	CC	CC	AA																															gcagacggtccacccggcctCccagctcccgactcaaccgc																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:8092644_8092645CC>AA	ENST00000389017.4	-	1	919_920	c.814_815GG>TT	c.(814-816)GGa>TTa	p.G272L	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	272										large_intestine(2)|lung(3)|urinary_tract(1)	6						CACCCGGCCTCCCAGCTCCCGA	0.703																																						uc010vut.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(814-816)gga>TTa		Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.																																				SO:0001583	missense	54785							g.chr17:8092644_8092645CC>AA	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.814_815delinsAA	17.37:g.8092644_8092645delinsAA	ENSP00000373669:p.Gly272Leu						p.G272L	NM_017622	NP_060092	Q96GS4	CQ059_HUMAN			0	920_921	-			272					Q53HS4|Q9NXW8	Missense_Mutation	DNP	ENST00000389017.4	37	c.814_815GG>TT	CCDS11133.2																																																																																				0.703	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		AA	8092645	CC	AA	8092644	3	1	211	1	0	0	0	0	1	0	0	0	1867	855	30	5	262	5	C17orf59	17	8092644	Missense_Mutation	DNP	CC	TCGA-28-5209-01A-01D-1486-08	4251924	8092644	73102566	79	14810											
TAOK1	57551	broad.mit.edu	37	chr17	27778581	27778593	+	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	CAGAGCAGGCAGC	-																															agcaggatgccatcaactaaCagagcaggcagcctgaagga																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:27778581_27778593delCAGAGCAGGCAGC	ENST00000261716.3	+	2	534_546	c.15_27delCAGAGCAGGCAGC	c.(13-27)aacagagcaggcagcfs	p.NRAGS5fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.NRAGS5fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	5					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATCAACTAACAGAGCAGGCAGCCTGAAGGACC	0.46																																						uc002hdz.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(13-27)aacagagcaggcagcfs		Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27778581_27778593delCAGAGCAGGCAGC	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.15_27delCAGAGCAGGCAGC	17.37:g.27778581_27778593delCAGAGCAGGCAGC	ENSP00000261716:p.Asn5fs					TAOK1_uc010wbe.2_Frame_Shift_Del_p.N5fs	p.N5fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		1	209_221	+			5					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Frame_Shift_Del	DEL	ENST00000261716.3	37	c.15_27delCAGAGCAGGCAGC	CCDS32601.1																																																																																				0.46	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		-	27778593	CAGAGCAGGCAGC	-	27778581	7	5	211	1	0	1	0	1	0	0	0	0	15544	477	17	0	17	0	TAOK1	17	27778581	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	TCGA-28-5209-01A-01D-1486-08	19685937	27778581	53416629	80	14811											
LAMA1	284217	broad.mit.edu	37	chr18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaccttcactctgccaCgaaacagctcgatggataaa	14	9	6	12	2	3	0	2	0	1	0	4	3	3	1	2	1	4	1	2	1	4	3	rs141811330		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:6965403C>A	ENST00000389658.3	-	50	7172	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2360	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACTCTGCCACGAAACAGCTC	0.443																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7078-7080)cGt>cTt		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103	98	99					18																	6965403		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6965403C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7079G>T	18.37:g.6965403C>A	ENSP00000374309:p.Arg2360Leu					LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.R1836L	p.R2360L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			49	7173	-		Colorectal(10;0.172)	2360			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7079G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561659	0.27915	.	.	ENSG00000101680	ENST00000389658	T	0.79653	-1.29	6.17	2.51	0.30379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.467738	0.22779	N	0.055753	T	0.79534	0.4462	M	0.73598	2.24	0.27222	N	0.959629	B	0.26147	0.143	B	0.31946	0.138	T	0.72347	-0.4321	10	0.72032	D	0.01	.	9.3241	0.37982	0.0:0.213:0.0:0.787	.	2360	P25391	LAMA1_HUMAN	L	2360	ENSP00000374309:R2360L	ENSP00000374309:R2360L	R	-	2	0	LAMA1	6955403	0.664000	0.27457	0.009000	0.14445	0.089000	0.18198	1.352000	0.34033	0.194000	0.20326	-0.294000	0.09567	CGT		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6965403	C	A	6965403	3	1	211	1	0	0	0	0	1	0	0	0	8605	536	19	5	2204	5	LAMA1	18	6965403	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		6965403	71111845	81	14812											
AFG3L2	10939	broad.mit.edu	37	chr18	12351333	12351333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctgtcgaaacgcccCggcctaagcagcgcggggtc	7	6	13	15	5	1	0	0	0	1	0	3	1	1	0	4	3	4	1	4	3	2	1	rs547346676	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:12351333C>T	ENST00000269143.3	-	11	1629	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	466					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGAAACGCCCCGGCCTAAGCA	0.463																																						uc002kqz.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1396-1398)ccG>ccA		Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	Adenosine triphosphate(DB00171)						76	71	73					18																	12351333		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12351333C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1398G>A	18.37:g.12351333C>T							p.P466P	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			10	1592	-			466					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.1398G>A	CCDS11859.1																																																																																				0.463	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		T	12351333	C	T	12351333	2	4	211	1	0	0	0	0	0	0	0	1	360	639	23	2		2	AFG3L2	18	12351333	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	5385930	12351333	65725915	82	14813											
TMPRSS9	360200	broad.mit.edu	37	chr19	2418090	2418090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacttctccctcacagaccGcatgatctgcgcaggcttcc	8	9	7	17	2	3	2	1	1	2	1	5	2	4	2	3	1	2	3	3	1	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:2418090G>A	ENST00000332578.3	+	12	2006	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	669	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACAGACCGCATGATCTGC	0.557																																						uc010xgx.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2005-2007)cGc>cAc		Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.							164	151	155					19																	2418090		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2418090G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2006G>A	19.37:g.2418090G>A	ENSP00000330264:p.Arg669His						p.R669H	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	2006	+			669			Peptidase S1 2.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2006G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	g	15.04	2.714739	0.48622	.	.	ENSG00000178297	ENST00000332578	T	0.60040	0.22	4.28	3.24	0.37175	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113396	0.39210	N	0.001423	T	0.63792	0.2541	M	0.67397	2.05	0.34054	D	0.656526	D	0.58268	0.982	P	0.52217	0.693	T	0.76000	-0.3119	10	0.66056	D	0.02	.	11.4747	0.50291	0.0908:0.0:0.9092:0.0	.	669	Q7Z410	TMPS9_HUMAN	H	669	ENSP00000330264:R669H	ENSP00000330264:R669H	R	+	2	0	TMPRSS9	2369090	0.314000	0.24563	0.997000	0.53966	0.180000	0.23129	2.321000	0.43805	0.939000	0.37446	-0.258000	0.10820	CGC		0.557	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		A	2418090	G	A	2418090	3	1	211	1	0	0	0	0	1	0	0	0	16250	1087	38	1	2052	1	TMPRSS9	19	2418090	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		2418090	56710893	83	14814											
ZNF358	140467	broad.mit.edu	37	chr19	7585507	7585507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcaccagctctggccGcaaccctgaccctggctctg	5	7	10	19	1	2	1	0	1	2	0	2	1	2	1	5	3	2	4	5	3	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:7585507G>A	ENST00000597229.1	+	2	1549	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.R460H	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	460					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						agctctggccgcaaccctgac	0.667																																						uc002mgn.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1378-1380)cGc>cAc		Homo sapiens zinc finger protein 358 (ZNF358), mRNA.							23	24	24					19																	7585507		2133	4202	6335	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585507G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1379G>A	19.37:g.7585507G>A	ENSP00000472305:p.Arg460His					ZNF358_uc021unu.1_Missense_Mutation_p.R460H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	p.R460H	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			1	1549	+			460					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.1379G>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505877	0.12883	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.43688	0.94	3.19	1.05	0.20165	.	.	.	.	.	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22382	-1.0218	9	0.72032	D	0.01	-9.0E-4	3.2817	0.06917	0.1779:0.0:0.3777:0.4443	.	460	Q9NW07	ZN358_HUMAN	H	460	ENSP00000377873:R460H	ENSP00000354703:R460H	R	+	2	0	ZNF358	7491507	0.000000	0.05858	0.103000	0.21229	0.035000	0.12851	0.023000	0.13533	0.242000	0.21303	0.462000	0.41574	CGC		0.667	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			A	7585507	G	A	7585507	3	1	211	1	0	0	0	0	1	0	0	0	17864	1087	38	1	1381	1	ZNF358	19	7585507	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	5167417	7585507	51543476	84	14815											
ICAM1	3383	broad.mit.edu	37	chr19	10394191	10394191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaactggcacccctcccCtcttggcagccagtgggcaa	7	7	12	15	0	1	0	0	0	1	0	2	1	2	1	5	4	2	3	5	4	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:10394191C>T	ENST00000264832.3	+	3	691	c.366C>T	c.(364-366)ccC>ccT	p.P122P	ICAM1_ENST00000585443.1_3'UTR|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	122					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CACCCCTCCCCTCTTGGCAGC	0.637																																						uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(364-366)ccC>ccT		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)						54	57	56					19																	10394191		2203	4299	6502	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394191C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.366C>T	19.37:g.10394191C>T						ICAM1_uc010xle.1_Intron	p.P122P	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	685	+			122					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.366C>T	CCDS12231.1																																																																																				0.637	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			T	10394191	C	T	10394191	2	4	211	1	0	0	0	0	0	0	0	1	7479	668	24	3		3	ICAM1	19	10394191	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	2808684	10394191	48734792	85	14816											
MAN2B1	4125	broad.mit.edu	37	chr19	12759205	12759205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtccatcgtccttcagcagCcttcggtgcacctgggggga	5	9	13	14	3	1	0	1	0	0	0	5	1	3	1	4	4	3	2	4	4	0	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:12759205C>G	ENST00000456935.2	-	21	2488	c.2448G>C	c.(2446-2448)agG>agC	p.R816S	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.A3P|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R815S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	816					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCAGCAGCCTTCGGTGCA	0.652																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2446-2448)agG>agC		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							27	22	24					19																	12759205		2185	4254	6439	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12759205C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2448G>C	19.37:g.12759205C>G	ENSP00000395473:p.Arg816Ser					MAN2B1_uc010dyv.1_Missense_Mutation_p.R815S	p.R816S	NM_000528	NP_000519	O00754	MA2B1_HUMAN			20	2524	-			816					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2448G>C	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111606	0.77210	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.91464	-2.85;-2.85	5.51	0.635	0.17723	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.361676	0.18778	N	0.131417	D	0.94765	0.8310	M	0.90483	3.12	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92960	0.6388	10	0.62326	D	0.03	-36.8015	7.3609	0.26745	0.0:0.4631:0.3783:0.1586	.	815;816	G5E928;O00754	.;MA2B1_HUMAN	S	816;755;815	ENSP00000395473:R816S;ENSP00000221363:R815S	ENSP00000221363:R815S	R	-	3	2	MAN2B1	12620205	0.994000	0.37717	0.091000	0.20842	0.258000	0.26162	0.261000	0.18442	0.659000	0.30945	-0.254000	0.11334	AGG		0.652	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			G	12759205	C	G	12759205	3	3	211	1	0	0	0	0	1	0	0	0	9216	738	26	5	603	5	MAN2B1	19	12759205	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2365014	12759205	46369778	86	14817											
EMR2	30817	broad.mit.edu	37	chr19	14865775	14865775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggtctcacctgcacatcGtagtgggccatgaggacggc	9	7	14	11	2	1	1	1	1	1	0	3	2	1	2	2	4	1	2	2	4	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:14865775G>A	ENST00000315576.3	-	14	2032	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	EMR2_ENST00000595839.1_Silent_p.Y385Y|EMR2_ENST00000346057.1_Silent_p.Y478Y|EMR2_ENST00000353005.1_Silent_p.Y385Y|EMR2_ENST00000601345.1_Silent_p.Y516Y|EMR2_ENST00000594076.1_Silent_p.Y434Y|EMR2_ENST00000353876.1_Silent_p.Y434Y|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000596991.2_Silent_p.Y516Y|EMR2_ENST00000392967.2_Silent_p.Y516Y|EMR2_ENST00000392964.3_Nonsense_Mutation_p.R192*|EMR2_ENST00000594294.1_Silent_p.Y478Y	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	527	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGCACATCGTAGTGGGCCA	0.527																																						uc002mzp.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1579-1581)taC>taT		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.							140	107	118					19																	14865775		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865775G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1581C>T	19.37:g.14865775G>A						EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	p.Y527Y	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			13	2037	-			527			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.1581C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462531	0.84425	.	.	ENSG00000127507	ENST00000392964	.	.	.	4.05	-5.01	0.02991	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.381	0.21533	0.6157:0.1545:0.2297:0.0	.	.	.	.	X	192	.	ENSP00000376691:R192X	R	-	1	2	EMR2	14726775	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.811000	0.04369	0.508000	0.49915	CGA		0.527	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14865775	G	A	14865775	2	1	211	1	0	0	0	0	0	0	0	1	5105	1140	40	1		1	EMR2	19	14865775	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	2106570	14865775	44263208	87	14818											
ZNF98	148198	broad.mit.edu	37	chr19	22575722	22575722	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgttctcagtatcactttTtggaaataattttttttgcc	9	21	5	6	0	2	0	2	0	1	0	3	1	2	1	1	1	1	2	1	1	4	10			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:22575722T>C	ENST00000357774.5	-	4	436	c.315A>G	c.(313-315)caA>caG	p.Q105Q		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTATCACTTTTTGGAAATAAT	0.299																																						uc002nqt.2																			0		p.F104I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(313-315)caA>caG		Homo sapiens zinc finger protein 98 (ZNF98), mRNA.							44	36	38					19																	22575722		1872	4128	6000	SO:0001819	synonymous_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575722T>C		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.315A>G	19.37:g.22575722T>C							p.Q105Q	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			3	437	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	105						Silent	SNP	ENST00000357774.5	37	c.315A>G	CCDS46031.1																																																																																				0.299	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		C	22575722	T	C	22575722	2	2	211	1	0	0	0	0	0	0	0	1	18200	1838	64	4		4	ZNF98	19	22575722	Silent	SNP	T	TCGA-28-5209-01A-01D-1486-08	7709947	22575722	36553261	88	14819											
GPATCH1	55094	broad.mit.edu	37	chr19	33585093	33585093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctagattatctgttggtttCgaattgctaagaaaaatggg	12	14	10	5	1	1	2	0	0	1	2	2	3	1	2	1	2	1	3	1	2	6	6	rs149673951		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:33585093C>T	ENST00000170564.2	+	5	785	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	157	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGTTGGTTTCGAATTGCTAA	0.393																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(469-471)ttC>ttT		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	109	109	109		471	3.3	1	19	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPATCH1	NM_018025.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		157/932	33585093	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33585093C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.471C>T	19.37:g.33585093C>T							p.F157F	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			4	785	+	Esophageal squamous(110;0.137)		157			G-patch.		Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.471C>T	CCDS12428.1																																																																																				0.393	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33585093	C	T	33585093	2	4	211	1	0	0	0	0	0	0	0	1	6590	883	31	2		2	GPATCH1	19	33585093	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	11009371	33585093	25543890	89	14820											
NPHS1	4868	broad.mit.edu	37	chr19	36336653	36336653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagtttaaggcgtctcccgGgcgcagtgcggatgcgttgg	6	9	16	10	5	1	0	0	0	1	0	2	1	1	1	1	4	2	3	1	4	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:36336653G>A	ENST00000378910.5	-	13	1674	c.1675C>T	c.(1675-1677)Ccg>Tcg	p.P559S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P559S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	559	Ig-like C2-type 6.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTCTCCCGGGCGCAGTGCG	0.622																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1675-1677)Ccg>Tcg		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							56	52	54					19																	36336653		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36336653G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1675C>T	19.37:g.36336653G>A	ENSP00000368190:p.Pro559Ser						p.P559S	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1831	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		559			Ig-like C2-type 6.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1675C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006238	0.74932	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.85773	-2.03;-2.03	5.14	4.1	0.47936	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117593	0.56097	D	0.000030	D	0.84651	0.5519	L	0.46157	1.445	0.27877	N	0.939832	P	0.47545	0.897	P	0.51615	0.675	T	0.77159	-0.2690	10	0.30078	T	0.28	-12.4239	11.8479	0.52395	0.0865:0.0:0.9135:0.0	.	559	O60500	NPHN_HUMAN	S	559	ENSP00000368190:P559S;ENSP00000343634:P559S	ENSP00000343634:P559S	P	-	1	0	NPHS1	41028493	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	4.322000	0.59215	1.313000	0.45069	0.561000	0.74099	CCG		0.622	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36336653	G	A	36336653	3	1	211	1	0	0	0	0	1	0	0	0	10582	1232	43	3	2118	3	NPHS1	19	36336653	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	2751560	36336653	22792330	90	14821											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913516	39913516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctggagatggatgaacggGggccttccccactccacgtc	7	7	14	13	2	0	2	0	1	0	1	3	4	2	3	4	5	1	1	4	5	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:39913516G>A	ENST00000409794.3	+	18	2672	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.G579R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G549R|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	608					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATGAACGGGGGCCTTCCCC	0.587																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1822-1824)Ggg>Agg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							58	55	56					19																	39913516		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913516G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1822G>A	19.37:g.39913516G>A	ENSP00000386733:p.Gly608Arg					PLEKHG2_uc010xuy.2_Missense_Mutation_p.G549R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G386R	p.G608R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	2147	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		608					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1822G>A	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678096	0.29783	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.68331	-0.19;-0.18;-0.32	5.26	4.22	0.49857	.	0.807151	0.10456	N	0.672516	T	0.53546	0.1803	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.44429	0.835;0.745;0.718	B;B;B	0.40066	0.318;0.169;0.235	T	0.42137	-0.9469	10	0.37606	T	0.19	.	11.2812	0.49195	0.0:0.0:0.8175:0.1825	.	579;608;549	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	R	608;579;549	ENSP00000386733:G608R;ENSP00000392906:G579R;ENSP00000408857:G549R	ENSP00000386733:G608R	G	+	1	0	PLEKHG2	44605356	0.649000	0.27322	0.041000	0.18516	0.269000	0.26545	2.208000	0.42797	1.188000	0.43014	0.467000	0.42956	GGG		0.587	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39913516	G	A	39913516	3	1	211	1	0	0	0	0	1	0	0	0	12069	1232	43	3	1888	3	PLEKHG2	19	39913516	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	3576863	39913516	19215467	91	14822											
C5AR1	728	broad.mit.edu	37	chr19	47823297	47823297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttcctctcctgcctggCgctgcccatcttgttcacgt	3	13	8	17	3	3	0	1	0	2	0	5	1	4	0	4	1	2	2	4	1	0	3	rs201037165		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:47823297C>T	ENST00000355085.3	+	2	285	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	88					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCTGCCTGGCGCTGCCCATC	0.602																																						uc002pgj.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(262-264)gCg>gTg		Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	120	100	107		263	3.4	1	19		107	0,8600		0,0,4300	no	missense	C5AR1	NM_001736.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	88/351	47823297	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823297C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.263C>T	19.37:g.47823297C>T	ENSP00000347197:p.Ala88Val						p.A88V	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	1	312	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	88						Missense_Mutation	SNP	ENST00000355085.3	37	c.263C>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203049	0.58234	2.27E-4	0.0	ENSG00000197405	ENST00000355085	T	0.70986	-0.53	4.67	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.229862	0.37219	U	0.002199	T	0.61652	0.2364	L	0.37800	1.135	0.29954	N	0.819957	P	0.47191	0.891	P	0.44921	0.464	T	0.59958	-0.7356	10	0.24483	T	0.36	.	12.611	0.56549	0.0:0.8984:0.0:0.1016	.	88	P21730	C5AR_HUMAN	V	88	ENSP00000347197:A88V	ENSP00000347197:A88V	A	+	2	0	C5AR1	52515137	0.000000	0.05858	0.965000	0.40720	0.855000	0.48748	0.084000	0.14891	2.128000	0.65567	0.478000	0.44815	GCG		0.602	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		T	47823297	C	T	47823297	3	4	211	1	0	0	0	0	1	0	0	0	2281	768	27	1	268	1	C5AR1	19	47823297	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	7909781	47823297	11305686	92	14823											
SHANK1	50944	broad.mit.edu	37	chr19	51205832	51205832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagtagagcttcctccGcctcccgcggctgcccaggg	4	7	13	17	4	0	2	0	1	0	1	3	2	3	2	5	2	2	4	5	2	1	2	rs148526987		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51205832G>A	ENST00000293441.1	-	11	1657	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	SHANK1_ENST00000391814.1_Missense_Mutation_p.R547W|SHANK1_ENST00000359082.3_Missense_Mutation_p.R547W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	547					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTTCCTCCGCCTCCCGCGG	0.711																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1639-1641)Cgg>Tgg		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	31	25	27		1639	4.1	0.9	19	dbSNP_134	27	2,8598	2.2+/-6.3	0,2,4298	no	missense	SHANK1	NM_016148.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	547/2162	51205832	2,13004	2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205832G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1639C>T	19.37:g.51205832G>A	ENSP00000293441:p.Arg547Trp						p.R547W	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1658	-		all_neural(266;0.057)	547					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1639C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	15.39	2.820434	0.50633	0.0	2.33E-4	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14266	2.52;2.52;2.52	4.08	4.08	0.47627	Src homology-3 domain (1);	0.227351	0.25958	U	0.027207	T	0.17280	0.0415	L	0.39898	1.24	0.32043	N	0.598036	D	0.71674	0.998	P	0.51055	0.657	T	0.06499	-1.0823	10	0.87932	D	0	-14.2927	9.953	0.41649	0.0:0.0:0.7968:0.2032	.	547	Q9Y566	SHAN1_HUMAN	W	547	ENSP00000293441:R547W;ENSP00000351984:R547W;ENSP00000375690:R547W	ENSP00000293441:R547W	R	-	1	2	SHANK1	55897644	0.039000	0.19947	0.858000	0.33744	0.865000	0.49528	1.760000	0.38430	2.217000	0.71921	0.455000	0.32223	CGG		0.711	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51205832	G	A	51205832	3	1	211	1	0	0	0	0	1	0	0	0	14264	1086	38	1	4898	1	SHANK1	19	51205832	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	3382535	51205832	7923151	93	14824											
CD33	945	broad.mit.edu	37	chr19	51729289	51729289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgtcaggtgaagttcGctggagctggtgtgactacg	7	11	15	8	2	1	3	1	3	0	0	2	4	1	4	1	3	2	3	1	3	2	2	rs150408980	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51729289G>A	ENST00000262262.4	+	3	670	c.649G>A	c.(649-651)Gct>Act	p.A217T	CD33_ENST00000391796.3_Missense_Mutation_p.A217T|CD33_ENST00000436584.2_Missense_Mutation_p.A90T|CD33_ENST00000421133.2_Missense_Mutation_p.A90T	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	217	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTGAAGTTCGCTGGAGCTGG	0.622													N|||	3	0.000599042	0.0015	0	5008	,	,		17839	0		0	False		,,,				2504	0.001					uc002pwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(649-651)Gct>Act		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)	G	THR/ALA,THR/ALA,THR/ALA	3,4403		0,3,2200	48	45	46		268,649,649	0.8	0	19	dbSNP_134	46	0,8600		0,0,4300	no	missense,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	58,58,58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	90/238,217/311,217/365	51729289	3,13003	2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729289G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.649G>A	19.37:g.51729289G>A	ENSP00000262262:p.Ala217Thr					CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_Non-coding_Transcript	p.A217T	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	689	+		all_neural(266;0.0199)	217			Ig-like C2-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.649G>A	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.523923	0.27299	6.81E-4	0.0	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.03386	3.95;3.95;3.95;3.95	3.0	0.77	0.18497	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245559	0.21111	U	0.079994	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.001;0.007;0.02	B;B;B	0.19666	0.002;0.004;0.026	T	0.42275	-0.9461	10	0.87932	D	0	.	4.1641	0.10298	0.0:0.6118:0.2446:0.1436	.	90;217;217	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	T	90;217;90;217	ENSP00000403331:A90T;ENSP00000262262:A217T;ENSP00000410126:A90T;ENSP00000375673:A217T	ENSP00000262262:A217T	A	+	1	0	CD33	56421101	0.011000	0.17503	0.001000	0.08648	0.002000	0.02628	0.645000	0.24782	0.136000	0.18733	-0.375000	0.07067	GCT		0.622	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		A	51729289	G	A	51729289	3	1	211	1	0	0	0	0	1	0	0	0	3005	1087	38	1	659	1	CD33	19	51729289	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	523457	51729289	7399694	94	14825											
PEG3	5178	broad.mit.edu	37	chr19	57326473	57326473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatccacaaagcccaggcCacagtcctcacattcataga	14	6	7	14	0	2	2	2	0	0	2	4	3	4	2	4	1	1	0	4	1	2	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57326473C>T	ENST00000326441.9	-	10	3700	c.3337G>A	c.(3337-3339)Ggc>Agc	p.G1113S	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G987S|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G989S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1113S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1113					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGCCCAGGCCACAGTCCTCA	0.488																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3337-3339)Ggc>Agc		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							124	117	120					19																	57326473		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326473C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3337G>A	19.37:g.57326473C>T	ENSP00000326581:p.Gly1113Ser					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	p.G1113S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	3688	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1113					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3337G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024419	0.93518	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.58358	0.34;0.34	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000111	T	0.74512	0.3726	M	0.85462	2.755	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80770	-0.1234	9	0.66056	D	0.02	-48.4985	15.1385	0.72590	0.0:1.0:0.0:0.0	.	989;1113;1048	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1113	ENSP00000326581:G1113S;ENSP00000403051:G1113S	ENSP00000326581:G1113S	G	-	1	0	ZIM2	62018285	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.527000	0.53517	2.702000	0.92279	0.655000	0.94253	GGC		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57326473	C	T	57326473	3	4	211	1	0	0	0	0	1	0	0	0	11720	594	21	3	1433	3	PEG3	19	57326473	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	5597184	57326473	1802510	95	14826											
ZNF543	125919	broad.mit.edu	37	chr19	57839653	57839653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacctcacacggcaccagCggattcacagtggagagaag	13	4	11	13	2	2	1	2	0	0	1	2	4	2	3	2	3	1	1	2	3	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57839653C>T	ENST00000321545.4	+	4	1168	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACGGCACCAGCGGATTCACAG	0.527																																						uc002qoi.2																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(823-825)Cgg>Tgg		Homo sapiens zinc finger protein 543 (ZNF543), mRNA.							57	57	57					19																	57839653		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839653C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.823C>T	19.37:g.57839653C>T	ENSP00000322545:p.Arg275Trp						p.R275W	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1180	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	275					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.823C>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016422	0.54468	.	.	ENSG00000178229	ENST00000321545	T	0.25579	1.79	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55449	0.1921	M	0.91459	3.21	0.24854	N	0.992384	D	0.89917	1.0	D	0.97110	1.0	T	0.41197	-0.9522	9	0.87932	D	0	.	8.8335	0.35098	0.2244:0.7755:0.0:0.0	.	275	Q08ER8	ZN543_HUMAN	W	275	ENSP00000322545:R275W	ENSP00000322545:R275W	R	+	1	2	ZNF543	62531465	0.000000	0.05858	0.997000	0.53966	0.934000	0.57294	-0.845000	0.04340	1.700000	0.51204	0.491000	0.48974	CGG		0.527	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		T	57839653	C	T	57839653	3	4	211	1	0	0	0	0	1	0	0	0	17973	759	27	1	837	1	ZNF543	19	57839653	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	513180	57839653	1289330	96	14827											
RSPO4	343637	broad.mit.edu	37	chr20	948682	948682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactggcggatgccttccCggcggatgaacaggaagagc	9	6	15	11	4	0	2	0	1	0	1	1	5	1	5	2	5	4	1	2	5	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:948682C>T	ENST00000217260.4	-	2	275	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RSPO4_ENST00000400634.2_Missense_Mutation_p.R60Q	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	60					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GATGCCTTCCCGGCGGATGAA	0.622																																						uc002wej.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(178-180)cGg>cAg		Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.							62	65	64					20																	948682		1998	4169	6167	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:948682C>T	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.179G>A	20.37:g.948682C>T	ENSP00000217260:p.Arg60Gln					RSPO4_uc002wek.3_Missense_Mutation_p.R60Q	p.R60Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			1	279	-			60					A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.179G>A	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773519	0.90108	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.83335	-1.71;-1.71	5.14	5.14	0.70334	Growth factor, receptor (1);	0.000000	0.52532	D	0.000078	D	0.90841	0.7123	M	0.76170	2.325	0.44745	D	0.99774	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91956	0.5575	10	0.87932	D	0	-0.5065	17.1768	0.86844	0.0:1.0:0.0:0.0	.	60;60	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	Q	60	ENSP00000217260:R60Q;ENSP00000383475:R60Q	ENSP00000217260:R60Q	R	-	2	0	RSPO4	896682	1.000000	0.71417	0.965000	0.40720	0.558000	0.35554	7.232000	0.78116	2.385000	0.81259	0.563000	0.77884	CGG		0.622	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		T	948682	C	T	948682	3	4	211	1	0	0	0	0	1	0	0	0	13712	652	23	2	541	2	RSPO4	20	948682	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		948682	62076838	97	14828											
PROKR2	128674	broad.mit.edu	37	chr20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccatccagaccaaggCgatcaggaaggaggccgttt	12	5	13	11	2	1	1	1	0	0	1	2	5	2	4	4	5	0	1	4	5	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5283318C>T	ENST00000217270.3	-	2	522	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	PROKR2_ENST00000546004.1_Missense_Mutation_p.A175T	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A175S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)																												uc010zqw.2																			2	Substitution - Missense(2)	p.A175S(4)|p.I174N(1)|p.I174I(1)	lung(2)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(523-525)Gcc>Acc		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.							137	143	141					20																	5283318		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283318C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.523G>A	20.37:g.5283318C>T	ENSP00000217270:p.Ala175Thr	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.A175T|PROKR2_uc010zqy.2_Missense_Mutation_p.A175T	p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	531	-			175					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.523G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695216	0.30052	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39997	1.05;1.05	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.156254	0.56097	D	0.000022	T	0.28267	0.0698	N	0.12471	0.22	0.09310	N	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.15206	-1.0445	10	0.37606	T	0.19	.	16.2472	0.82450	0.0:1.0:0.0:0.0	.	175	Q8NFJ6	PKR2_HUMAN	T	175	ENSP00000440790:A175T;ENSP00000217270:A175T	ENSP00000217270:A175T	A	-	1	0	PROKR2	5231318	0.012000	0.17670	0.976000	0.42696	0.746000	0.42486	1.311000	0.33562	2.442000	0.82660	0.655000	0.94253	GCC		0.493	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5283318	C	T	5283318	3	4	211	1	0	0	0	0	1	0	0	0	12553	768	27	1	634	1	PROKR2	20	5283318	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	4334636	5283318	57742202	98	14829											
PROKR2	128674	broad.mit.edu	37	chr20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtgcaatgccaatgaCgatcttggctgcgaagaagg	11	8	13	9	2	1	2	0	1	1	1	1	4	1	2	2	2	4	2	2	2	4	1	rs146963803		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5294853C>T	ENST00000217270.3	-	1	162	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	PROKR2_ENST00000546004.1_Missense_Mutation_p.V55I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	55					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATGCCAATGACGATCTTGGCT	0.517										HNSCC(71;0.22)			C|||	1	0.000199681	8e-04	0	5008	,	,		24125	0		0	False		,,,				2504	0					uc010zqw.2																			0		p.I54I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(163-165)Gtc>Atc		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.		C	ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	159	131	141		163	3.7	0.7	20	dbSNP_134	141	0,8600		0,0,4300	yes	missense	PROKR2	NM_144773.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	55/385	5294853	2,13004	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294853C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.163G>A	20.37:g.5294853C>T	ENSP00000217270:p.Val55Ile	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.V55I|PROKR2_uc010zqy.2_Missense_Mutation_p.V55I|AX746654_uc002wly.1_5'Flank	p.V55I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			0	171	-			55					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.163G>A	CCDS13089.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.173	0.400054	0.11696	4.54E-4	0.0	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.36878	1.23;1.23	4.6	3.65	0.41850	.	0.062472	0.64402	D	0.000006	T	0.34221	0.0890	M	0.74881	2.28	0.48236	D	0.999618	B	0.18968	0.032	B	0.14578	0.011	T	0.14839	-1.0458	10	0.09590	T	0.72	.	11.131	0.48347	0.0:0.9071:0.0:0.0929	.	55	Q8NFJ6	PKR2_HUMAN	I	55	ENSP00000440790:V55I;ENSP00000217270:V55I	ENSP00000217270:V55I	V	-	1	0	PROKR2	5242853	0.486000	0.25980	0.706000	0.30403	0.413000	0.31143	1.160000	0.31761	1.051000	0.40369	0.655000	0.94253	GTC		0.517	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5294853	C	T	5294853	3	4	211	1	0	0	0	0	1	0	0	0	12553	536	19	1	998	1	PROKR2	20	5294853	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	11535	5294853	57730667	99	14830											
PCSK2	5126	broad.mit.edu	37	chr20	17434533	17434533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggactgccctgtacgaCgagagctgctcttccacctt	7	9	11	14	2	1	1	0	0	1	1	2	4	2	2	3	2	4	4	3	2	1	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000536609.1_Silent_p.D309D|PCSK2_ENST00000377899.1_Silent_p.D325D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCCTGTACGACGAGAGCTGCT	0.597																																						uc002wpm.3																			1	Substitution - coding silent(1)	p.D344D(2)|p.Y343Y(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1030-1032)gaC>gaT		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						144	108	120					20																	17434533		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434533C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1032C>T	20.37:g.17434533C>T						PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D	p.D344D	NM_002594	NP_001188457	P16519	NEC2_HUMAN			8	1386	+			344			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1032C>T	CCDS13125.1																																																																																				0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17434533	C	T	17434533	2	4	211	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	12139680	17434533	45590987	100	14831											
TPTE	7179	broad.mit.edu	37	chr21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatagctagagaaatagaaCgatactccaaaggaatataa	21	7	7	6	1	0	2	0	0	0	2	1	5	1	3	1	1	3	1	1	1	11	6	rs113140892	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:10951332C>T	ENST00000361285.4	-	10	709	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000298232.7_Missense_Mutation_p.R109H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338																																						uc002yip.1																			1	Substitution - Missense(1)	p.R126Q(1)|p.R126*(1)|p.R109H(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(379-381)cGt>cAt		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99	107	104		326,266,380	0.9	0	21	dbSNP_132	104	1,8593		0,1,4296	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	109/534,89/514,127/552	10951332	1,12999	2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951332C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.380G>A	21.37:g.10951332C>T	ENSP00000355208:p.Arg127His					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109H|TPTE_uc002yir.1_Missense_Mutation_p.R89H|TPTE_uc010gkv.1_5'UTR	p.R127H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	748	-			127					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.380G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.751	1.167533	0.21621	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97430	-4.38;-4.38;-4.38	1.8	0.877	0.19145	.	0.456228	0.21930	U	0.067036	D	0.92140	0.7508	L	0.49126	1.545	0.09310	N	1	P;P;P	0.39759	0.687;0.687;0.56	B;B;B	0.30716	0.119;0.119;0.056	D	0.86249	0.1648	10	0.52906	T	0.07	-1.829	4.1712	0.10331	0.0:0.7811:0.0:0.2189	.	89;109;127	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	109;127;89;109	ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H	ENSP00000298232:R109H	R	-	2	0	TPTE	9973203	0.000000	0.05858	0.031000	0.17742	0.132000	0.20833	-0.561000	0.05957	0.313000	0.23062	0.194000	0.17425	CGT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10951332	C	T	10951332	3	4	211	1	0	0	0	0	1	0	0	0	16427	536	19	1	1335	1	TPTE	21	10951332	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		10951332	37178563	101	14832											
ITGB2	3689	broad.mit.edu	37	chr21	46320316	46320316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggcgcccagcttcccGtcgcccgcgaaatggaagcc	8	5	13	15	5	0	0	0	0	0	0	2	3	1	2	4	3	2	1	4	3	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:46320316G>A	ENST00000397850.2	-	8	1268	c.816C>T	c.(814-816)gaC>gaT	p.D272D	ITGB2_ENST00000397854.3_Silent_p.D215D|ITGB2_ENST00000397857.1_Silent_p.D272D|ITGB2_ENST00000355153.4_Silent_p.D272D|ITGB2_ENST00000302347.5_Silent_p.D272D|ITGB2_ENST00000397852.1_Silent_p.D272D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	272	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCTTCCCGTCGCCCGCGA	0.632																																						uc002zgd.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(814-816)gaC>gaT		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						101	86	91					21																	46320316		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320316G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.816C>T	21.37:g.46320316G>A						ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	p.D272D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	860	-			272			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.816C>T	CCDS13716.1																																																																																				0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		A	46320316	G	A	46320316	2	1	211	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46320316	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	35368984	46320316	1809579	102	14833											
ZNF280B	140883	broad.mit.edu	37	chr22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcacacatagggcatttCgccaggcttatgatggtcct	8	11	11	11	1	0	1	0	1	0	0	2	1	1	1	2	4	0	3	2	4	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																						uc002zwc.1																			0		p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1198-1200)Gaa>Aaa		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							117	111	113					22																	22842526		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842526C>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	400						Missense_Mutation	SNP	ENST00000406426.1	37	c.1198G>A	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		T	22842526	C	T	22842526	3	4	211	1	0	0	0	0	1	0	0	0	17812	893	31	2	437	2	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		22842526	28462040	103	14834											
ZNF280A	129025	broad.mit.edu	37	chr22	22868784	22868784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcacacgtagggcatttCgccaggcttatgatggtcct	7	11	12	11	2	0	1	0	1	0	0	2	1	1	1	2	4	0	4	2	4	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22868784C>T	ENST00000302097.3	-	2	1423	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E391K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.453																																						uc002zwe.3																			1	Substitution - Missense(1)	p.E391K(2)	endometrium(1)	endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1171-1173)Gaa>Aaa		Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.							114	94	101					22																	22868784		2203	4297	6500	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868784C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1171G>A	22.37:g.22868784C>T	ENSP00000302855:p.Glu391Lys					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E391K	p.E391K	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	1424	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	391						Missense_Mutation	SNP	ENST00000302097.3	37	c.1171G>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113354	0.77210	.	.	ENSG00000169548	ENST00000302097	T	0.34859	1.34	3.9	0.441	0.16577	.	.	.	.	.	T	0.50154	0.1599	M	0.92317	3.295	0.33224	D	0.555079	D	0.60160	0.987	P	0.50136	0.632	T	0.61192	-0.7112	9	0.62326	D	0.03	-5.291	4.5073	0.11894	0.2116:0.5871:0.0:0.2013	.	391	P59817	Z280A_HUMAN	K	391	ENSP00000302855:E391K	ENSP00000302855:E391K	E	-	1	0	ZNF280A	21198784	0.994000	0.37717	0.256000	0.24389	0.895000	0.52256	3.146000	0.50631	0.150000	0.19136	0.655000	0.94253	GAA		0.453	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		T	22868784	C	T	22868784	3	4	211	1	0	0	0	0	1	0	0	0	17811	893	31	2	461	2	ZNF280A	22	22868784	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	26258	22868784	28435782	104	14835											
AP1B1	162	broad.mit.edu	37	chr22	29754763	29754763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagggtgtccaggaagccCtggtcctccaccagctgggc	7	8	13	13	0	0	0	0	0	0	0	3	1	3	1	5	4	2	1	5	4	2	1	rs540408269		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:29754763C>A	ENST00000405198.1	-	4	508	c.477G>T	c.(475-477)caG>caT	p.Q159H	AP1B1_ENST00000402502.1_Missense_Mutation_p.Q159H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Q159H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Q159H|AP1B1_ENST00000357586.2_Missense_Mutation_p.Q159H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Q159H|AP1B1_ENST00000317368.7_Missense_Mutation_p.Q159H			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	159					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGGAAGCCCTGGTCCTCCA	0.597																																						uc003afj.3																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(475-477)caG>caT		Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.							145	114	125					22																	29754763		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29754763C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.477G>T	22.37:g.29754763C>A	ENSP00000384194:p.Gln159His					AP1B1_uc003afl.3_Missense_Mutation_p.Q159H|AP1B1_uc003afi.3_Missense_Mutation_p.Q159H	p.Q159H	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			4	664	-			159					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.477G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930236	0.52866	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.62	2.38	0.29361	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.52126	1.63	0.80722	D	1	B;B;D;D	0.76494	0.014;0.014;0.999;0.975	B;B;P;P	0.60789	0.008;0.006;0.879;0.625	T	0.04900	-1.0919	10	0.35671	T	0.21	-20.4123	11.2006	0.48739	0.0:0.8067:0.0:0.1933	.	159;159;159;159	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	H	159	ENSP00000350199:Q159H;ENSP00000348297:Q159H;ENSP00000400065:Q159H;ENSP00000384194:Q159H;ENSP00000319361:Q159H;ENSP00000386071:Q159H;ENSP00000387612:Q159H;ENSP00000400022:Q159H	ENSP00000319361:Q159H	Q	-	3	2	AP1B1	28084763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.536000	0.45693	0.744000	0.32741	0.563000	0.77884	CAG		0.597	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		A	29754763	C	A	29754763	3	1	211	1	0	0	0	0	1	0	0	0	731	680	24	5	2448	5	AP1B1	22	29754763	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	6885979	29754763	21549803	105	14836											
CPT1B	1375	broad.mit.edu	37	chr22	51008725	51008725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaggagcactcacaggGccaaagccacctccagcgcc	10	4	9	18	1	2	0	2	0	0	0	3	1	3	1	6	2	3	1	6	2	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:51008725G>A	ENST00000360719.2	-	17	2276	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	CPT1B_ENST00000434492.2_Silent_p.G508G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.G632G|CPT1B_ENST00000457250.1_Silent_p.G679G|CPT1B_ENST00000405237.3_Silent_p.G713G|CPT1B_ENST00000312108.7_Silent_p.G713G|CPT1B_ENST00000395650.2_Silent_p.G713G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	713					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G713G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CACTCACAGGGCCAAAGCCAC	0.652																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmm.3																			1	Substitution - coding silent(1)	p.G713G(2)|p.G713S(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2137-2139)ggC>ggT		Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							75	74	74					22																	51008725		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51008725G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2139C>T	22.37:g.51008725G>A						CPT1B_uc003bmk.4_Silent_p.G713G|CPT1B_uc003bml.3_Silent_p.G713G|CPT1B_uc003bmo.3_Silent_p.G713G|CPT1B_uc011asa.2_Silent_p.G679G|CPT1B_uc003bmn.3_Silent_p.G713G|CPT1B_uc011asb.2_Silent_p.G632G|CPT1B_uc003bmp.3_Silent_p.G508G|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	p.G713G	NM_004377	NP_689452	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	16	2238	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	713					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.2139C>T	CCDS14098.1																																																																																				0.652	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		A	51008725	G	A	51008725	2	1	211	1	0	0	0	0	0	0	0	1	3832	1190	42	3		3	CPT1B	22	51008725	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	21253962	51008725	295841	106	14837											
MAGEB1	4112	broad.mit.edu	37	chrX	30268850	30268850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatgtaccgaatctgaCgaaggtgccaaatgccaagg	12	8	12	9	2	2	1	1	1	1	0	2	3	2	1	3	2	3	1	3	2	5	1	rs201824203		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:30268850C>T	ENST00000378981.3	+	4	561	c.240C>T	c.(238-240)gaC>gaT	p.D80D	MAGEB1_ENST00000397550.1_Silent_p.D80D|MAGEB1_ENST00000397548.2_Silent_p.D80D	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	80										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCGAATCTGACGAAGGTGCCA	0.557													C|||	1	0.000264901	0	0	3775	,	,		15086	0.001		0	False		,,,				2504	0					uc022buh.1																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(238-240)gaC>gaT		Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.							49	35	40					X																	30268850		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30268850C>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.240C>T	X.37:g.30268850C>T						MAGEB1_uc004dcc.3_Silent_p.D80D|MAGEB1_uc004dcd.3_Silent_p.D80D|MAGEB1_uc004dce.3_Silent_p.D80D	p.D80D	NM_177415	NP_803134	P43366	MAGB1_HUMAN			0	240	+			80					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.240C>T	CCDS14222.1																																																																																				0.557	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		T	30268850	C	T	30268850	2	4	211	1	0	0	0	0	0	0	0	1	9172	535	19	1		1	MAGEB1	23	30268850	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08		30268850	125001710	107	14838											
ZNF157	7712	broad.mit.edu	37	chrX	47272323	47272323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaacatttcGtgtaaagatatcccttaccc	13	12	8	8	1	0	2	0	1	0	1	2	3	1	3	2	1	2	1	2	1	7	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:47272323G>A	ENST00000377073.3	+	4	937	c.851G>A	c.(850-852)cGt>cAt	p.R284H		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	284					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACATTTCGTGTAAAGATA	0.443																																						uc004dhr.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(850-852)cGt>cAt		Homo sapiens zinc finger protein 157 (ZNF157), mRNA.							48	46	47					X																	47272323		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272323G>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.851G>A	X.37:g.47272323G>A	ENSP00000366273:p.Arg284His						p.R284H	NM_003446	NP_003437	P51786	ZN157_HUMAN			3	920	+			284					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.851G>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484197	0.26598	.	.	ENSG00000147117	ENST00000377073	T	0.08102	3.13	3.04	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06188	0.0160	L	0.33189	0.99	0.09310	N	1	B	0.24092	0.097	B	0.19946	0.027	T	0.38308	-0.9667	9	0.37606	T	0.19	.	5.3895	0.16236	0.1308:0.2051:0.6641:0.0	.	284	P51786	ZN157_HUMAN	H	284	ENSP00000366273:R284H	ENSP00000366273:R284H	R	+	2	0	ZNF157	47157267	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-0.293000	0.08320	0.186000	0.20125	0.600000	0.82982	CGT		0.443	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		A	47272323	G	A	47272323	3	1	211	1	0	0	0	0	1	0	0	0	17734	1145	40	1	865	1	ZNF157	23	47272323	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	17003473	47272323	107998237	108	14839											
SUV39H1	6839	broad.mit.edu	37	chrX	48564987	48564987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaccatccgggcaggCgaggagctcacctttgatta	12	7	11	11	2	1	2	1	1	0	1	2	4	2	3	3	3	2	2	3	3	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:48564987C>T	ENST00000376687.3	+	5	1264	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_3'UTR|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000337852.6_Silent_p.G369G	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	358	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCGGGCAGGCGAGGAGCTCA	0.592																																						uc004dkn.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1072-1074)ggC>ggT		Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.							35	26	29					X																	48564987		2203	4300	6503	SO:0001819	synonymous_variant	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48564987C>T	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.1074C>T	X.37:g.48564987C>T						SUV39H1_uc011mmf.2_Silent_p.G369G|SUV39H1_uc011mmg.2_Non-coding_Transcript	p.G358G	NM_003173	NP_003164	O43463	SUV91_HUMAN			4	1119	+			358			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	c.1074C>T	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	C	1.388	-0.581501	0.03854	.	.	ENSG00000101945	ENST00000448548	.	.	.	4.83	3.01	0.34805	.	.	.	.	.	T	0.66147	0.2760	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66044	-0.6021	5	0.72032	D	0.01	.	10.0176	0.42024	0.5365:0.4635:0.0:0.0	.	.	.	.	V	353	.	ENSP00000410043:A353V	A	+	2	0	SUV39H1	48449931	0.952000	0.32445	1.000000	0.80357	0.163000	0.22366	0.127000	0.15790	0.433000	0.26313	-0.337000	0.08149	GCG		0.592	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		T	48564987	C	T	48564987	2	4	211	1	0	0	0	0	0	0	0	1	15409	755	27	1		1	SUV39H1	23	48564987	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	1292664	48564987	106705573	109	14840											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722205	64722205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaatccatgggggacCatggctactattcaatgtta	11	13	10	7	0	1	1	1	1	0	0	2	2	2	2	2	3	1	3	2	3	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:64722205C>A	ENST00000338957.4	+	5	1694	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.H532N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	543							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.H393N(1)|p.H479N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGGGACCATGGCTACTA	0.478																																						uc010nko.3																			2	Substitution - Missense(2)	p.H393N(1)|p.H479N(1)	lung(2)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1627-1629)Cat>Aat		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							55	52	53					X																	64722205		1922	4117	6039	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722205C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1627C>A	X.37:g.64722205C>A	ENSP00000340839:p.His543Asn						p.H543N	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1694	+			532					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1627C>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329447	0.41197	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.22945	1.93;1.93	4.95	4.95	0.65309	.	0.100526	0.64402	D	0.000001	T	0.26991	0.0661	L	0.60455	1.87	0.54753	D	0.99998	P	0.38922	0.651	B	0.38378	0.272	T	0.04427	-1.0952	10	0.15952	T	0.53	-42.1289	15.737	0.77853	0.0:1.0:0.0:0.0	.	532	Q5HYM0	ZC12B_HUMAN	N	543;532;479	ENSP00000340839:H543N;ENSP00000408077:H532N	ENSP00000218172:H479N	H	+	1	0	ZC3H12B	64638930	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.445000	0.60007	2.280000	0.76307	0.513000	0.50165	CAT		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		A	64722205	C	A	64722205	3	1	211	1	0	0	0	0	1	0	0	0	17559	594	21	5	1645	5	ZC3H12B	23	64722205	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	16157218	64722205	90548355	110	14841											
GPR174	84636	broad.mit.edu	37	chrX	78427065	78427065	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccgttgttatgatgacCattggcgagttgattgggtt	7	15	13	6	2	0	3	0	3	0	0	1	4	1	3	2	2	0	4	2	2	1	6			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:78427065C>A	ENST00000276077.1	+	1	597	c.561C>A	c.(559-561)acC>acA	p.T187T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T187fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTATGATGACCATTGGCGAGT	0.458										HNSCC(63;0.18)																												uc004edg.1																			1	Deletion - Frameshift(1)	p.T187fs*3(2)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(559-561)acC>acA		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							117	104	109					X																	78427065		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427065C>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.561C>A	X.37:g.78427065C>A		HNSCC(63;0.18)					p.T187T	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			0	597	+			187					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.561C>A	CCDS14443.1																																																																																				0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		A	78427065	C	A	78427065	2	1	211	1	0	0	0	0	0	0	0	1	6672	581	21	5		5	GPR174	23	78427065	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13704860	78427065	76843495	111	14842											
BRWD3	254065	broad.mit.edu	37	chrX	79960260	79960260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgctgcatattttacGtgttgtctgtctggtttgtc	5	18	11	7	1	2	1	0	0	2	1	3	1	2	1	0	1	4	5	0	1	2	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:79960260G>A	ENST00000373275.4	-	23	2854	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	880					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATATTTTACGTGTTGTCTGT	0.368																																						uc004edt.3																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2638-2640)Cgt>Tgt		Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.							127	114	119					X																	79960260		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79960260G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2638C>T	X.37:g.79960260G>A	ENSP00000362372:p.Arg880Cys					BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R709C|BRWD3_uc004edq.3_Missense_Mutation_p.R476C|BRWD3_uc010nmj.2_Missense_Mutation_p.R476C|BRWD3_uc004edr.3_Missense_Mutation_p.R550C|BRWD3_uc004eds.3_Missense_Mutation_p.R476C|BRWD3_uc004edo.3_Missense_Mutation_p.R476C|BRWD3_uc004edu.3_Missense_Mutation_p.R550C|BRWD3_uc004edv.3_Missense_Mutation_p.R476C|BRWD3_uc004edw.3_Missense_Mutation_p.R476C|BRWD3_uc004edx.3_Missense_Mutation_p.R476C|BRWD3_uc004edy.3_Missense_Mutation_p.R476C|BRWD3_uc004edz.3_Missense_Mutation_p.R550C|BRWD3_uc004eea.3_Missense_Mutation_p.R550C|BRWD3_uc004eeb.3_Missense_Mutation_p.R476C	p.R880C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			22	2901	-			880					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2638C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257796	0.59321	.	.	ENSG00000165288	ENST00000373275	T	0.42131	0.98	4.48	3.59	0.41128	.	0.190295	0.45126	D	0.000388	T	0.45856	0.1363	M	0.71581	2.175	0.41976	D	0.990774	D	0.54397	0.966	P	0.46339	0.513	T	0.48080	-0.9066	9	.	.	.	-2.625	11.2117	0.48802	0.0:0.0:0.6682:0.3318	.	880	Q6RI45	BRWD3_HUMAN	C	880	ENSP00000362372:R880C	.	R	-	1	0	BRWD3	79846916	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.028000	0.49705	0.957000	0.37930	0.544000	0.68410	CGT		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	79960260	G	A	79960260	3	1	211	1	0	0	0	0	1	0	0	0	1526	1145	40	1	2846	1	BRWD3	23	79960260	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	1533195	79960260	75310300	112	14843											
NRK	203447	broad.mit.edu	37	chrX	105156744	105156744	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaaatcctaaaaaaatTgaggtaaatttttcaatatg	18	15	4	4	0	2	1	2	1	0	0	3	1	3	1	1	1	0	1	1	1	9	7			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:105156744T>G	ENST00000243300.9	+	14	2649	c.2346T>G	c.(2344-2346)atT>atG	p.I782M	NRK_ENST00000428173.2_Missense_Mutation_p.I783M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	782					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTAAAAAAATTGAGGTAAATT	0.338										HNSCC(51;0.14)																												uc004emd.3																			0		p.I782fs*66(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(2344-2346)atT>atG		Homo sapiens Nik related kinase (NRK), mRNA.							26	23	24					X																	105156744		1795	4035	5830	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105156744T>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2346T>G	X.37:g.105156744T>G	ENSP00000434830:p.Ile782Met	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.I450M	p.I782M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2649	+			782					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2346T>G		.	.	.	.	.	.	.	.	.	.	T	8.518	0.868140	0.17250	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.08;-1.09	3.59	1.11	0.20524	.	0.875835	0.09643	N	0.774755	T	0.57799	0.2078	N	0.14661	0.345	0.30997	N	0.720793	P;B	0.35411	0.5;0.327	B;B	0.34931	0.192;0.059	T	0.58233	-0.7672	10	0.72032	D	0.01	.	2.4638	0.04547	0.2382:0.1341:0.0:0.6277	.	450;782	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	M	782;783	ENSP00000434830:I782M;ENSP00000438378:I783M	ENSP00000434830:I782M	I	+	3	3	NRK	105043400	0.995000	0.38212	0.436000	0.26797	0.017000	0.09413	1.052000	0.30429	0.115000	0.18071	0.486000	0.48141	ATT		0.338	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		G	105156744	T	G	105156744	3	3	211	1	0	0	0	0	1	0	0	0	10655	1800	63	5	2400	5	NRK	23	105156744	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	25196484	105156744	50113816	113	14844											
DOCK11	139818	broad.mit.edu	37	chrX	117748723	117748723	+	Frame_Shift_Del	DEL	C	C	-																															gactatatatctggattcagCcccaaagatcctaaggtaag																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:117748723delC	ENST00000276202.7	+	29	3228	c.3165delC	c.(3163-3165)agcfs	p.S1055fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.S1055fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1055					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGGATTCAGCCCCAAAGATC	0.343																																						uc004eqp.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3163-3165)agcfs		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.							76	81	79					X																	117748723		2202	4294	6496	SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117748723delC	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3165delC	X.37:g.117748723delC	ENSP00000276202:p.Ser1055fs					DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs	p.S1055fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			28	3228	+			1055					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	c.3165delC	CCDS35373.1																																																																																				0.343	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		-	117748723	C	-	117748723	7	5	211	1	0	1	0	1	0	0	0	0	4686	738	26	0	3279	0	DOCK11	23	117748723	Frame_Shift_Del	DEL	C	TCGA-28-5209-01A-01D-1486-08	12591979	117748723	37521837	114	14845											
MTMR1	8776	broad.mit.edu	37	chrX	149898608	149898608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacttgcggcttgcttatAaacaggaagaacagagtaaa	16	8	11	6	1	0	2	0	0	0	2	0	4	0	4	0	3	5	3	0	3	8	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:149898608A>G	ENST00000370390.3	+	6	716	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	MTMR1_ENST00000538506.1_Missense_Mutation_p.K74E|MTMR1_ENST00000541925.1_Missense_Mutation_p.K93E|MTMR1_ENST00000542156.1_Missense_Mutation_p.K187E|MTMR1_ENST00000451863.2_Missense_Mutation_p.K187E|MTMR1_ENST00000445323.2_Missense_Mutation_p.K195E|MTMR1_ENST00000544228.1_Missense_Mutation_p.K187E	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	187					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTTATAAACAGGAAGA	0.383																																						uc004feh.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(583-585)Aaa>Gaa		Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.							120	108	112					X																	149898608		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149898608A>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.559A>G	X.37:g.149898608A>G	ENSP00000359417:p.Lys187Glu					MTMR1_uc011mya.1_Missense_Mutation_p.K93E|MTMR1_uc004feg.1_Missense_Mutation_p.K187E|MTMR1_uc004fei.3_Missense_Mutation_p.K187E|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	p.K195E	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			6	718	+	Acute lymphoblastic leukemia(192;6.56e-05)		187					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.583A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770991	0.69992	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.78916	2.43	0.80722	D	1	P;B;D	0.76494	0.796;0.222;0.999	B;B;D	0.65874	0.207;0.071;0.939	D	0.88893	0.3347	10	0.33141	T	0.24	.	14.3226	0.66496	1.0:0.0:0.0:0.0	.	187;195;187	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	E	93;93;187;187;195;187;187;74	ENSP00000441879:K93E;ENSP00000431992:K93E;ENSP00000445281:K187E;ENSP00000359417:K187E;ENSP00000414178:K195E;ENSP00000440534:K187E;ENSP00000387446:K187E;ENSP00000443444:K74E	ENSP00000359417:K187E	K	+	1	0	MTMR1	149649266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.037000	0.93765	1.830000	0.53286	0.486000	0.48141	AAA		0.383	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		G	149898608	A	G	149898608	3	3	211	1	0	0	0	0	1	0	0	0	9938	363	13	4	581	4	MTMR1	23	149898608	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	32149885	149898608	5371952	115	14846											
PLXNB3	5365	broad.mit.edu	37	chrX	153032873	153032873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcgggcaagctgtcGgcaggggtgccacccctggc	4	5	18	14	2	0	0	0	0	0	0	1	0	0	0	4	7	2	3	4	7	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:153032873G>A	ENST00000361971.5	+	3	705	c.591G>A	c.(589-591)tcG>tcA	p.S197S	U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.S220S|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	197	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGCTGTCGGCAGGGGTGC	0.716													G|||	1	0.000264901	0	0	3775	,	,		10264	0.001		0	False		,,,				2504	0					uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(658-660)tcG>tcA		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							10	10	10					X																	153032873		2167	4258	6425	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032873G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.591G>A	X.37:g.153032873G>A						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.S197S|PLXNB3_uc011mzd.1_Intron	p.S220S	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			3	931	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		197			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.660G>A	CCDS14729.1																																																																																				0.716	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153032873	G	A	153032873	2	1	211	1	0	0	0	0	0	0	0	1	12125	1103	39	2		2	PLXNB3	23	153032873	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	3134265	153032873	2237687	116	14847											
KIAA0562	9731	broad.mit.edu	37	chr1	3761888	3761888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaatctgcagggtctcCaatgatatttatggcaacca	13	11	8	9	0	2	2	0	2	2	0	3	2	2	2	2	2	2	2	2	2	5	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:3761888C>G	ENST00000378230.3	-	5	778	c.454G>C	c.(454-456)Gga>Cga	p.G152R	CEP104_ENST00000378223.3_Missense_Mutation_p.G152R	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	152						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCAGGGTCTCCAATGATATTT	0.294																																						uc001aky.2																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(454-456)Gga>Cga		Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.							84	95	92					1																	3761888		2201	4300	6501	SO:0001583	missense	9731					centriole	binding	g.chr1:3761888C>G	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.454G>C	1.37:g.3761888C>G	ENSP00000367476:p.Gly152Arg					CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.G152R	p.G152R	NM_014704	NP_055519	O60308	CE104_HUMAN			4	813	-			152					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.454G>C	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330623	0.60743	.	.	ENSG00000116198	ENST00000378230;ENST00000428079;ENST00000378223	D;D	0.85773	-2.03;-2.03	5.29	4.37	0.52481	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93864	0.7156	10	0.87932	D	0	.	14.3281	0.66534	0.1495:0.8505:0.0:0.0	.	152;152	O60308-3;O60308	.;CE104_HUMAN	R	152;94;152	ENSP00000367476:G152R;ENSP00000367468:G152R	ENSP00000367468:G152R	G	-	1	0	CEP104	3751748	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.211000	0.77933	1.209000	0.43321	-0.181000	0.13052	GGA		0.294	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		G	3761888	C	G	3761888	3	3	212	1	0	0	0	0	1	0	0	0	8184	603	21	5	2395	5	KIAA0562	1	3761888	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		3761888	245488733	1	14848											
ABCA4	24	broad.mit.edu	37	chr1	94466600	94466600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccttctctgatgatgCtcacgatgacgttccacagc	7	11	7	16	2	2	3	1	3	1	0	5	4	4	3	3	0	2	2	3	0	0	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:94466600C>T	ENST00000370225.3	-	46	6430	c.6344G>A	c.(6343-6345)aGc>aAc	p.S2115N	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000536513.1_Missense_Mutation_p.S385N|ABCA4_ENST00000535881.1_Missense_Mutation_p.S234N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2115	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGATGATGCTCACGATGAC	0.632																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6343-6345)aGc>aAc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							121	109	113					1																	94466600		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466600C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6344G>A	1.37:g.94466600C>T	ENSP00000359245:p.Ser2115Asn						p.S2115N	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	45	6448	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2115			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6344G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251130	0.39797	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.95272	-3.66;-3.66;-3.66	6.08	3.18	0.36537	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.251294	0.51477	N	0.000086	D	0.83403	0.5247	L	0.31157	0.91	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.78191	-0.2300	10	0.33141	T	0.24	.	10.9317	0.47222	0.0:0.7428:0.0:0.2572	.	2115	P78363	ABCA4_HUMAN	N	907;2115;385;234	ENSP00000359245:S2115N;ENSP00000439707:S385N;ENSP00000443203:S234N	ENSP00000359245:S2115N	S	-	2	0	ABCA4	94239188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.648000	0.46647	0.880000	0.35969	0.655000	0.94253	AGC		0.632	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94466600	C	T	94466600	3	4	212	1	0	0	0	0	1	0	0	0	34	797	28	3	497	3	ABCA4	1	94466600	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	90704712	94466600	154784021	2	14849											
PPM1J	333926	broad.mit.edu	37	chr1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgttgttggggagaCgccagccacggtctcggggg	5	8	17	11	3	1	1	0	0	1	1	2	2	1	1	3	5	2	3	3	5	0	3	rs113935705		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:113252867C>T	ENST00000309276.6	-	10	1611	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	RP11-426L16.10_ENST00000606505.1_Intron|RHOC_ENST00000339083.7_5'Flank|PPM1J_ENST00000359994.4_Missense_Mutation_p.R273H|RHOC_ENST00000369642.3_5'Flank|PPM1J_ENST00000464951.1_Missense_Mutation_p.R273H|RP11-426L16.10_ENST00000471038.2_Intron	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	479	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													C|||	1	0.000199681	0	0	5008	,	,		17374	0		0	False		,,,				2504	0.001					uc001ect.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1435-1437)cGt>cAt		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.		C	HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	47	52	50		1436	4.9	1	1	dbSNP_132	50	0,8600		0,0,4300	no	missense	PPM1J	NM_005167.5	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	479/506	113252867	2,13004	2203	4300	6503	SO:0001583	missense	333926							g.chr1:113252867C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1436G>A	1.37:g.113252867C>T	ENSP00000308926:p.Arg479His					RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	p.R479H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1463	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	479			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.1436G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252604	0.80135	4.54E-4	0.0	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.34859	1.34;1.44	5.77	4.87	0.63330	Protein phosphatase 2C-like (4);	0.112676	0.64402	N	0.000013	T	0.55561	0.1928	M	0.90759	3.145	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.72338	0.959;0.977	T	0.66015	-0.6028	10	0.72032	D	0.01	-3.8076	10.6168	0.45456	0.0:0.8525:0.0:0.1475	.	479;273	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	H	479;273	ENSP00000308926:R479H;ENSP00000353088:R273H	ENSP00000308926:R479H	R	-	2	0	PPM1J	113054390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.803000	0.55560	1.465000	0.48006	0.561000	0.74099	CGT		0.622	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		T	113252867	C	T	113252867	3	4	212	1	0	0	0	0	1	0	0	0	12342	536	19	1	85	1	PPM1J	1	113252867	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	18786267	113252867	135997754	3	14850											
TCHH	7062	broad.mit.edu	37	chr1	152082812	152082812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagcttcttatccttccGatattgcctttcccgctcct	4	16	5	16	2	1	0	0	0	1	0	5	1	5	0	5	0	3	3	5	0	2	6			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152082812G>A	ENST00000368804.1	-	2	2880	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	961	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ttatccttcCGATATTGCCTT	0.562																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2881-2883)Cgg>Tgg		Homo sapiens trichohyalin (TCHH), mRNA.							203	206	205					1																	152082812		1917	4129	6046	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082812G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2881C>T	1.37:g.152082812G>A	ENSP00000357794:p.Arg961Trp					TCHH_uc001ezp.2_Missense_Mutation_p.R961W	p.R961W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3153	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		961			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2881C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	5.506	0.278255	0.10403	.	.	ENSG00000159450	ENST00000368804	T	0.12465	2.68	2.85	0.787	0.18596	.	.	.	.	.	T	0.05960	0.0155	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.59171	0.853	T	0.16958	-1.0385	9	0.72032	D	0.01	.	1.0859	0.01652	0.1463:0.2299:0.3895:0.2344	.	961	Q07283	TRHY_HUMAN	W	961	ENSP00000357794:R961W	ENSP00000357794:R961W	R	-	1	2	TCHH	150349436	0.003000	0.15002	0.002000	0.10522	0.020000	0.10135	-0.229000	0.09098	0.145000	0.18977	0.462000	0.41574	CGG		0.562	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		A	152082812	G	A	152082812	3	1	212	1	0	0	0	0	1	0	0	0	15697	1057	37	2	2954	2	TCHH	1	152082812	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	38829945	152082812	97167809	4	14851											
FLG	2312	broad.mit.edu	37	chr1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacactggatccctggCgcctgcttctcctggacccc	4	9	10	18	1	2	0	1	0	1	0	4	2	3	2	5	4	1	2	5	4	0	1	rs369659011		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152278705C>T	ENST00000368799.1	-	3	8692	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2886	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8656-8658)cGc>cAc		Homo sapiens filaggrin (FLG), mRNA.		C	HIS/ARG	0,4108		0,0,2054	92	149	131		8657	-6.8	0	1		131	1,8555		0,1,4277	no	missense	FLG	NM_002016.1	29	0,1,6331	TT,TC,CC		0.0117,0.0,0.0079	benign	2886/4062	152278705	1,12663	2054	4278	6332	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278705C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8657G>A	1.37:g.152278705C>T	ENSP00000357789:p.Arg2886His						p.R2886H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2886			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8657G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.358	-0.347234	0.05208	0.0	1.17E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01335	5.0	3.38	-6.77	0.01727	.	.	.	.	.	T	0.00328	0.0010	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51772	-0.8663	9	0.06625	T	0.88	.	3.5086	0.07700	0.1189:0.4835:0.126:0.2716	.	2886	P20930	FILA_HUMAN	H	2886;148	ENSP00000357789:R2886H	ENSP00000357786:R148H	R	-	2	0	FLG	150545329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.617000	0.00881	-2.651000	0.00424	-3.074000	0.00066	CGC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152278705	C	T	152278705	3	4	212	1	0	0	0	0	1	0	0	0	5922	768	27	1	3532	1	FLG	1	152278705	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	195893	152278705	96971916	5	14852											
USH2A	7399	broad.mit.edu	37	chr1	216595382	216595382	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggcctgctgagaaaagGgcagtgtaggtagggtgtga	10	8	18	5	0	0	3	0	3	0	1	0	4	0	3	1	4	1	4	1	4	4	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:216595382G>A	ENST00000307340.3	-	2	683	c.297C>T	c.(295-297)gcC>gcT	p.A99A	USH2A_ENST00000366942.3_Silent_p.A99A|USH2A_ENST00000366943.2_Silent_p.A99A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	99					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGAAAAGGGCAGTGTAGG	0.453										HNSCC(13;0.011)																												uc001hku.1																			0		p.A99V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(295-297)gcC>gcT		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							117	110	112					1																	216595382		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595382G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.297C>T	1.37:g.216595382G>A		HNSCC(13;0.011)				USH2A_uc001hkv.3_Silent_p.A99A	p.A99A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	1	684	-			99					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.297C>T	CCDS31025.1																																																																																				0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216595382	G	A	216595382	2	1	212	1	0	0	0	0	0	0	0	1	17033	1219	43	3		3	USH2A	1	216595382	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	64316677	216595382	32655239	6	14853											
OR2G2	81470	broad.mit.edu	37	chr1	247752222	247752222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcgaggtccctgtgctCatcaagctggcttgtgtggg	5	12	14	10	1	3	0	2	0	1	0	4	1	4	0	1	3	3	3	1	3	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:247752222C>A	ENST00000320065.1	+	1	561	c.561C>A	c.(559-561)ctC>ctA	p.L187L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCTGTGCTCATCAAGCTGG	0.537																																						uc010pyy.2																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(559-561)ctC>ctA		Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.							182	177	179					1																	247752222		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752222C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.561C>A	1.37:g.247752222C>A							p.L187L	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	561	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		187					Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.561C>A	CCDS31092.1																																																																																				0.537	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			A	247752222	C	A	247752222	2	1	212	1	0	0	0	0	0	0	0	1	10998	813	29	5		5	OR2G2	1	247752222	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08	31156840	247752222	1498399	7	14854											
DYSF	8291	broad.mit.edu	37	chr2	71886153	71886153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcctgcagcccaaggaccCcaatggaaaggtaactttcc	11	7	10	13	0	0	0	0	0	0	0	1	2	1	2	5	4	3	2	5	4	4	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:71886153C>G	ENST00000258104.3	+	43	5061	c.4784C>G	c.(4783-4785)cCc>cGc	p.P1595R	DYSF_ENST00000410020.3_Missense_Mutation_p.P1634R|DYSF_ENST00000429174.2_Missense_Mutation_p.P1616R|DYSF_ENST00000409366.1_Missense_Mutation_p.P1617R|DYSF_ENST00000394120.2_Missense_Mutation_p.P1596R|DYSF_ENST00000409651.1_Missense_Mutation_p.P1627R|DYSF_ENST00000410041.1_Missense_Mutation_p.P1613R|DYSF_ENST00000413539.2_Missense_Mutation_p.P1626R|DYSF_ENST00000409744.1_Missense_Mutation_p.P1603R|DYSF_ENST00000409582.3_Missense_Mutation_p.P1633R|DYSF_ENST00000409762.1_Missense_Mutation_p.P1612R|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1595	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAAGGACCCCAATGGAAAG	0.577																																						uc010fen.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4900-4902)cCc>cGc		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							69	69	69					2																	71886153		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71886153C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4784C>G	2.37:g.71886153C>G	ENSP00000258104:p.Pro1595Arg					DYSF_uc010fei.3_Missense_Mutation_p.P1612R|DYSF_uc010feh.3_Missense_Mutation_p.P1602R|DYSF_uc002sig.4_Missense_Mutation_p.P1581R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1626R|DYSF_uc010fee.3_Missense_Mutation_p.P1616R|DYSF_uc010fef.3_Missense_Mutation_p.P1633R|DYSF_uc002sie.3_Missense_Mutation_p.P1595R|DYSF_uc010feo.3_Missense_Mutation_p.P1627R|DYSF_uc010fej.3_Missense_Mutation_p.P1603R|DYSF_uc010fel.3_Missense_Mutation_p.P1582R|DYSF_uc010fem.3_Missense_Mutation_p.P1617R|DYSF_uc002sif.3_Missense_Mutation_p.P1596R|DYSF_uc010fek.3_Missense_Mutation_p.P1613R|DYSF_uc010yqy.2_Missense_Mutation_p.P476R|DYSF_uc010yqz.2_Missense_Mutation_p.P356R	p.P1634R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN			43	5042	+			1595			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4901C>G	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601512	0.46423	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.443641	0.25708	N	0.028826	T	0.60209	0.2251	L	0.35854	1.095	0.35923	D	0.831938	B;B;P;P;P;P;P;P;B;P;B;P;B;P;P	0.48911	0.001;0.02;0.868;0.696;0.696;0.523;0.523;0.758;0.012;0.868;0.004;0.917;0.016;0.696;0.741	B;B;P;P;P;B;B;B;B;P;B;P;B;P;P	0.48770	0.021;0.029;0.454;0.454;0.454;0.283;0.355;0.196;0.061;0.454;0.021;0.476;0.029;0.454;0.589	T	0.60326	-0.7285	10	0.10111	T	0.7	-17.1896	12.1787	0.54199	0.1706:0.8294:0.0:0.0	.	359;1627;1634;1617;1582;1613;1603;1612;1602;1626;1633;1616;1581;1596;1595	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	1626;1612;1633;1616;1595;1627;1596;1603;1617;1634;1613	ENSP00000407046:P1626R;ENSP00000387137:P1612R;ENSP00000386547:P1633R;ENSP00000398305:P1616R;ENSP00000258104:P1595R;ENSP00000386683:P1627R;ENSP00000377678:P1596R;ENSP00000386285:P1603R;ENSP00000386512:P1617R;ENSP00000386881:P1634R;ENSP00000386617:P1613R	ENSP00000258104:P1595R	P	+	2	0	DYSF	71739661	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	2.649000	0.89929	0.650000	0.86243	CCC		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		G	71886153	C	G	71886153	3	3	212	1	0	0	0	0	1	0	0	0	4859	623	22	5	5213	5	DYSF	2	71886153	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		71886153	171313220	8	14855											
FAM176A	84141	broad.mit.edu	37	chr2	75720533	75720533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcggtgtctccgcacGgagagatcggacacggtgtc	8	6	16	11	6	1	1	0	0	1	1	4	4	1	3	1	5	1	1	1	5	1	0			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:75720533G>A	ENST00000233712.1	-	4	725	c.288C>T	c.(286-288)tcC>tcT	p.S96S	EVA1A_ENST00000410010.1_Silent_p.S84S|EVA1A_ENST00000410071.1_Silent_p.S96S|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Silent_p.S96S|EVA1A_ENST00000410113.1_Silent_p.S96S	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	96					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GTCTCCGCACGGAGAGATCGG	0.647																																						uc002sni.2																			0		p.S96F(1)		endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						c.(286-288)tcC>tcT		Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.							58	53	55					2																	75720533		2203	4300	6503	SO:0001819	synonymous_variant	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720533G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.288C>T	2.37:g.75720533G>A						FAM176A_uc002snj.1_Silent_p.S83S|FAM176A_uc002snk.1_Silent_p.S96S	p.S96S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN			3	766	-			96					D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	c.288C>T	CCDS1959.1																																																																																				0.647	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		A	75720533	G	A	75720533	2	1	212	1	0	0	0	0	0	0	0	1	5499	1103	39	2		2	FAM176A	2	75720533	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	3834380	75720533	167478840	9	14856											
NEB	4703	broad.mit.edu	37	chr2	152363440	152363440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgagctgaaattcttctGattttcttttacacgcagta	10	16	6	9	2	3	2	0	2	3	0	3	3	3	2	1	0	3	3	1	0	4	8			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:152363440G>T	ENST00000172853.10	-	135	18583	c.18436C>A	c.(18436-18438)Cag>Aag	p.Q6146K	NEB_ENST00000427231.2_Missense_Mutation_p.Q7847K|NEB_ENST00000397345.3_Missense_Mutation_p.Q7847K|NEB_ENST00000409198.1_Missense_Mutation_p.Q6146K|NEB_ENST00000509223.2_5'UTR|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000603639.1_Missense_Mutation_p.Q7847K|NEB_ENST00000604864.1_Missense_Mutation_p.Q7847K			P20929	NEBU_HUMAN	nebulin	6146					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTCTTCTGATTTTCTTTT	0.318																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18436-18438)Cag>Aag		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.							113	109	110					2																	152363440		1804	4068	5872	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152363440G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18436C>A	2.37:g.152363440G>T	ENSP00000172853:p.Gln6146Lys					NEB_uc002txr.3_Missense_Mutation_p.Q2612K|NEB_uc002txu.3_Missense_Mutation_p.Q7847K|NEB_uc021vrc.1_Missense_Mutation_p.Q7847K|NEB_uc010fnx.3_Missense_Mutation_p.Q6134K|NEB_uc021vrd.1_Missense_Mutation_p.Q6146K|RIF1_uc002txp.3_Intron|NEB_uc010zca.2_5'Flank|NEB_uc010zcb.2_5'UTR|NEB_uc002txt.4_Missense_Mutation_p.Q651K	p.Q6146K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	133	18465	-			6146					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18436C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.948069|3.948069	0.73787|0.73787	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000424585|ENST00000421461	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.214410|.	0.47455|.	D|.	0.000226|.	D|.	0.84220|.	0.5424|.	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D;P|.	0.54964|.	0.969;0.961;0.726|.	P;P;P|.	0.60012|.	0.867;0.839;0.665|.	D|.	0.84812|.	0.0791|.	10|.	0.32370|.	T|.	0.25|.	.|.	19.609|19.609	0.95594|0.95594	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6146;7847;2577|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	K|X	6146;7847;7847;2195;2577;6146;74|23	ENSP00000386259:Q6146K;ENSP00000380505:Q7847K;ENSP00000416578:Q7847K;ENSP00000410961:Q2577K;ENSP00000172853:Q6146K;ENSP00000404876:Q74K|.	ENSP00000172853:Q6146K|.	Q|S	-|-	1|2	0|0	NEB|NEB	152071686|152071686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.905000|5.905000	0.69893|0.69893	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.318	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152363440	G	T	152363440	3	4	212	1	0	0	0	0	1	0	0	0	10302	1299	45	5	2118	5	NEB	2	152363440	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	76642907	152363440	90835933	10	14857											
COL6A3	1293	broad.mit.edu	37	chr2	238275426	238275426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcggacagctcctggaCgttgcccacgcggaacgctg	7	7	13	14	5	0	0	0	0	0	0	2	3	1	3	2	3	3	4	2	3	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:238275426C>T	ENST00000295550.4	-	11	5856	c.5404G>A	c.(5404-5406)Gtc>Atc	p.V1802I	COL6A3_ENST00000347401.3_Missense_Mutation_p.V1601I|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1602I|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1596I|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1596I|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1195I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1802	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCTCCTGGACGTTGCCCACG	0.532																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5404-5406)Gtc>Atc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							100	92	95					2																	238275426		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275426C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5404G>A	2.37:g.238275426C>T	ENSP00000295550:p.Val1802Ile					COL6A3_uc002vwo.2_Missense_Mutation_p.V1596I|COL6A3_uc010znj.1_Missense_Mutation_p.V1195I	p.V1802I	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5689	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1802			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5404G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045872	0.55110	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.52	4.58	0.56647	von Willebrand factor, type A (3);	0.266592	0.26255	N	0.025422	T	0.75042	0.3796	L	0.42245	1.32	0.31698	N	0.641073	P;P;B	0.51449	0.945;0.827;0.037	P;P;B	0.46940	0.532;0.465;0.013	T	0.79555	-0.1755	10	0.62326	D	0.03	.	13.1225	0.59336	0.0:0.9164:0.0:0.0836	.	1195;1596;1802	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	I	1802;1601;1596;1195;1596;1602	ENSP00000295550:V1802I;ENSP00000315609:V1601I;ENSP00000315873:V1596I;ENSP00000418285:V1195I;ENSP00000386844:V1596I;ENSP00000295546:V1602I	ENSP00000295550:V1802I	V	-	1	0	COL6A3	237940165	0.990000	0.36364	0.327000	0.25402	0.958000	0.62258	2.991000	0.49409	1.193000	0.43086	0.655000	0.94253	GTC		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238275426	C	T	238275426	3	4	212	1	0	0	0	0	1	0	0	0	3701	536	19	1	4265	1	COL6A3	2	238275426	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	85911986	238275426	4923947	11	14858											
TRAIP	10293	broad.mit.edu	37	chr3	49869443	49869443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggtagcattgagatCaatatcatcacggaaggatg	16	9	10	6	1	4	1	4	1	0	1	4	4	4	3	0	3	1	2	0	3	5	3	rs557403443		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr3:49869443C>A	ENST00000331456.2	-	11	1056	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	TRAIP_ENST00000469027.1_Missense_Mutation_p.D160Y	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	315	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATTGAGATCAATATCATCA	0.542																																						uc003cxs.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(943-945)Gat>Tat		Homo sapiens TRAF interacting protein (TRAIP), mRNA.							94	97	96					3																	49869443		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49869443C>A	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.943G>T	3.37:g.49869443C>A	ENSP00000328203:p.Asp315Tyr					TRAIP_uc010hla.1_Missense_Mutation_p.D216Y	p.D315Y	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1049	-			315			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.943G>T	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721420	0.68959	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.58506	0.33	5.83	4.95	0.65309	.	0.125034	0.64402	D	0.000001	T	0.70561	0.3238	M	0.65498	2.005	0.33858	D	0.633455	D;D	0.89917	0.999;1.0	D;D	0.75020	0.915;0.985	T	0.79600	-0.1736	10	0.66056	D	0.02	-9.4284	8.8903	0.35429	0.0:0.7664:0.0:0.2336	.	315;315	A8K807;Q9BWF2	.;TRAIP_HUMAN	Y	315;160	ENSP00000420085:D160Y	ENSP00000328203:D315Y	D	-	1	0	TRAIP	49844447	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	1.360000	0.34125	1.472000	0.48140	0.655000	0.94253	GAT		0.542	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		A	49869443	C	A	49869443	3	1	212	1	0	0	0	0	1	0	0	0	16445	826	29	5	486	5	TRAIP	3	49869443	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		49869443	148152987	12	14859											
TLR6	10333	broad.mit.edu	37	chr4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaatgctttcaatgtcGttttagaataagtaaaatct	13	17	6	5	1	3	1	2	0	1	1	4	1	3	1	0	0	1	3	0	0	7	6	rs374845111		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:38830190G>A	ENST00000381950.1	-	1	970	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_ENST00000436693.2_Missense_Mutation_p.T302M			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(904-906)aCg>aTg		Homo sapiens toll-like receptor 6 (TLR6), mRNA.		G	MET/THR	0,4404		0,0,2202	60	63	62		905	5.5	0.1	4		62	1,8597	1.2+/-3.3	0,1,4298	no	missense	TLR6	NM_006068.4	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	302/797	38830190	1,13001	2202	4299	6501	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830190G>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.905C>T	4.37:g.38830190G>A	ENSP00000371376:p.Thr302Met					TLR6_uc003gtm.3_Missense_Mutation_p.T302M	p.T302M	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1026	-			302					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.905C>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813939	0.50527	0.0	1.16E-4	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.09350	2.99;2.99	5.5	5.5	0.81552	.	0.097074	0.45361	D	0.000368	T	0.37404	0.1002	M	0.86178	2.8	0.40044	D	0.975696	D	0.89917	1.0	D	0.69142	0.962	T	0.33163	-0.9879	10	0.87932	D	0	.	16.1107	0.81261	0.0:0.0:1.0:0.0	.	302	Q9Y2C9	TLR6_HUMAN	M	302	ENSP00000389600:T302M;ENSP00000371376:T302M	ENSP00000371376:T302M	T	-	2	0	TLR6	38506585	0.100000	0.21855	0.082000	0.20525	0.480000	0.33159	1.269000	0.33074	2.584000	0.87258	0.491000	0.48974	ACG		0.323	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			A	38830190	G	A	38830190	3	1	212	1	0	0	0	0	1	0	0	0	15952	1145	40	1	1489	1	TLR6	4	38830190	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		38830190	152324086	13	14860											
TNIP3	79931	broad.mit.edu	37	chr4	122085228	122085228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttacctctttatgctccGtagaactttctgcggcaatc	7	16	6	12	2	3	1	0	0	3	1	5	1	4	1	2	1	4	3	2	1	5	6	rs144762502	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:122085228G>A	ENST00000509841.1	-	4	362	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TNIP3_ENST00000507879.1_Missense_Mutation_p.T88M|TNIP3_ENST00000057513.3_Missense_Mutation_p.T18M|TNIP3_ENST00000454328.1_Missense_Mutation_p.T18M	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.T18M(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTATGCTCCGTAGAACTTTC	0.398													G|||	2	0.000399361	0.0015	0	5008	,	,		16364	0		0	False		,,,				2504	0					uc021xrj.1																			1	Substitution - Missense(1)	p.T18M(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(283-285)aCg>aTg		Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.		G	MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	127	114	119		53,53	1.1	0	4	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TNIP3	NM_001128843.2,NM_024873.5	81,81	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign	18/326,18/326	122085228	5,13001	2203	4300	6503	SO:0001583	missense	79931							g.chr4:122085228G>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.284C>T	4.37:g.122085228G>A	ENSP00000426613:p.Thr95Met					TNIP3_uc010ing.3_Missense_Mutation_p.T18M|TNIP3_uc011cgj.2_Missense_Mutation_p.T88M|TNIP3_uc010ini.3_Missense_Mutation_p.T18M	p.T95M	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN			3	363	-			18						Missense_Mutation	SNP	ENST00000509841.1	37	c.284C>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	7.418	0.636144	0.14386	9.08E-4	1.16E-4	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.48201	0.92;0.92;0.82;0.82	5.44	1.14	0.20703	.	1.071200	0.07204	N	0.858040	T	0.27205	0.0667	N	0.21448	0.665	0.09310	N	1	P;B;P	0.42357	0.777;0.414;0.777	B;B;B	0.29267	0.1;0.031;0.1	T	0.11324	-1.0592	10	0.33141	T	0.24	-2.4328	7.7995	0.29166	0.4206:0.0:0.5794:0.0	.	88;18;18	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	M	18;18;88;95	ENSP00000057513:T18M;ENSP00000411817:T18M;ENSP00000427106:T88M;ENSP00000426613:T95M	ENSP00000057513:T18M	T	-	2	0	TNIP3	122304678	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.669000	0.25142	0.043000	0.15746	-0.157000	0.13467	ACG		0.398	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		A	122085228	G	A	122085228	3	1	212	1	0	0	0	0	1	0	0	0	16313	1145	40	1	968	1	TNIP3	4	122085228	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	83255038	122085228	69069048	14	14861											
HCN1	348980	broad.mit.edu	37	chr5	45695952	45695952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggcccctcggcgtcttCgaagccccccgccggctcct	2	6	12	21	6	1	0	0	0	1	0	4	1	2	0	8	4	1	1	8	4	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:45695952C>T	ENST00000303230.4	-	1	301	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	82					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGCGTCTTCGAAGCCCCCC	0.711																																						uc003jok.3																			0		p.F81I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(244-246)Gaa>Aaa		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							10	13	12					5																	45695952		2109	4172	6281	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695952C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.244G>A	5.37:g.45695952C>T	ENSP00000307342:p.Glu82Lys						p.E82K	NM_021072	NP_066550	O60741	HCN1_HUMAN			0	269	-			82						Missense_Mutation	SNP	ENST00000303230.4	37	c.244G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351120	0.24512	.	.	ENSG00000164588	ENST00000303230	D	0.97455	-4.39	4.18	4.18	0.49190	.	0.123300	0.32593	N	0.005897	D	0.92877	0.7734	L	0.27053	0.805	0.41016	D	0.985041	B	0.12013	0.005	B	0.06405	0.002	D	0.90052	0.4150	10	0.15499	T	0.54	.	15.2177	0.73281	0.0:1.0:0.0:0.0	.	82	O60741	HCN1_HUMAN	K	82	ENSP00000307342:E82K	ENSP00000307342:E82K	E	-	1	0	HCN1	45731709	0.998000	0.40836	0.836000	0.33094	0.180000	0.23129	4.004000	0.57068	2.132000	0.65825	0.462000	0.41574	GAA		0.711	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45695952	C	T	45695952	3	4	212	1	0	0	0	0	1	0	0	0	6996	893	31	2	2460	2	HCN1	5	45695952	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		45695952	135219308	15	14862											
ZNF366	167465	broad.mit.edu	37	chr5	71757119	71757120	+	Missense_Mutation	DNP	CG	CG	AT																															ccctgctccttcgaagacccCggggaacccatctaggtctc																										TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:71757119_71757120CG>AT	ENST00000318442.5	-	2	694_695	c.204_205CG>AT	c.(202-207)ccCGgg>ccATgg	p.G69W		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	69					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCGAAGACCCCGGGGAACCCAT	0.584																																						uc003kce.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(202-207)cccggg>ccATgg		Homo sapiens zinc finger protein 366 (ZNF366), mRNA.																																				SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71757119_71757120CG>AT	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.204_205delinsAT	5.37:g.71757119_71757120delinsAT	ENSP00000313158:p.Gly69Trp						p.G69W	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	1	390_391	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	69					Q5HYI9|Q7RTV4	Missense_Mutation	DNP	ENST00000318442.5	37	c.204_205CG>AT	CCDS4015.1																																																																																				0.584	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			AT	71757120	CG	AT	71757119	3	1	212	1	0	0	0	0	1	0	0	0	17867	652	23	5	2045	5	ZNF366	5	71757119	Missense_Mutation	DNP	CG	TCGA-28-5211-01C-11D-1845-08	26061167	71757119	109158141	16	14863											
E2F3	1871	broad.mit.edu	37	chr6	20402625	20402625	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgctgccgccgccccGggcgcgtacatccagatcct	4	5	12	20	7	0	1	0	0	0	1	2	1	2	1	8	1	2	2	8	1	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:20402625G>C	ENST00000346618.3	+	1	228	c.162G>C	c.(160-162)ccG>ccC	p.P54P	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	54					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccCCGGGCGCGTACA	0.731																																						uc003nda.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(160-162)ccG>ccC		Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.							18	25	23					6																	20402625		2169	4234	6403	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402625G>C	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.162G>C	6.37:g.20402625G>C						E2F3_uc003ncz.2_Silent_p.P54P|E2F3_uc021ymj.1_5'Flank	p.P54P	NM_001949	NP_001940	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		0	489	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		54					Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.162G>C	CCDS4545.1																																																																																				0.731	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			C	20402625	G	C	20402625	2	2	212	1	0	0	0	0	0	0	0	1	4868	1103	39	5		5	E2F3	6	20402625	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08		20402625	150712442	17	14864											
BAT2	7916	broad.mit.edu	37	chr6	31599728	31599728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggagcgagggttcagAgtatgaggaaatccccaagc	13	5	14	9	2	1	2	1	1	0	1	2	6	2	4	2	3	2	2	2	3	3	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:31599728A>G	ENST00000376033.2	+	16	3512	c.3278A>G	c.(3277-3279)gAg>gGg	p.E1093G	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1093G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1093	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAGGGTTCAGAGTATGAGGAA	0.632																																						uc003nvb.4																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3277-3279)gAg>gGg		Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.							33	41	38					6																	31599728		1507	2707	4214	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599728A>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3278A>G	6.37:g.31599728A>G	ENSP00000365201:p.Glu1093Gly					PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.E1093G	p.E1093G	NM_080686	NP_542417	P48634	PRC2A_HUMAN			15	3527	+			1093			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3278A>G	CCDS4708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.51|12.51	1.960159|1.960159	0.34565|0.34565	.|.	.|.	ENSG00000204469|ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010|ENST00000424184;ENST00000435052	T;T|.	0.02103|.	4.45;4.45|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.51363|0.51363	0.1670|0.1670	L|L	0.49778|0.49778	1.585|1.585	0.53688|0.53688	D|D	0.99997|0.99997	D|.	0.89917|.	1.0|.	D|.	0.69307|.	0.963|.	T|T	0.51601|0.51601	-0.8685|-0.8685	10|5	0.87932|.	D|.	0|.	-17.3987|-17.3987	13.6117|13.6117	0.62083|0.62083	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1093|.	P48634|.	PRC2A_HUMAN|.	G|G	1093;1093;318|1092;1081	ENSP00000365175:E1093G;ENSP00000365201:E1093G|.	ENSP00000365175:E1093G|.	E|S	+|+	2|1	0|0	PRRC2A|PRRC2A	31707707|31707707	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.910000|0.910000	0.53928|0.53928	8.754000|8.754000	0.91642|0.91642	2.071000|2.071000	0.62044|0.62044	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		G	31599728	A	G	31599728	3	3	212	1	0	0	0	0	1	0	0	0	1319	304	11	4	3336	4	BAT2	6	31599728	Missense_Mutation	SNP	A	TCGA-28-5211-01C-11D-1845-08	11197103	31599728	139515339	18	14865											
LAMA2	3908	broad.mit.edu	37	chr6	129802525	129802525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgagtccggcatcattCttttgggaagtggagggaca	11	10	14	6	1	2	2	1	1	1	1	3	5	3	5	1	4	0	1	1	4	2	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:129802525C>G	ENST00000421865.2	+	55	7739	c.7690C>G	c.(7690-7692)Ctt>Gtt	p.L2564V	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2564	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		L -> P (in MDC1A). {ECO:0000269|PubMed:11591858}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGCATCATTCTTTTGGGAAG	0.488																																						uc021zfb.1																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7690-7692)Ctt>Gtt		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							151	144	146					6																	129802525		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129802525C>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7690C>G	6.37:g.129802525C>G	ENSP00000400365:p.Leu2564Val					LAMA2_uc003qbn.3_Missense_Mutation_p.L2562V|LAMA2_uc003qbo.3_Missense_Mutation_p.L2558V|BC035400_uc003qbq.3_Non-coding_Transcript	p.L2564V	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7795	+			2564		L -> P (in MDC1A).	Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7690C>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378614	0.42207	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	D	0.85955	-2.05	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.062441	0.64402	D	0.000004	D	0.88190	0.6370	M	0.75615	2.305	0.50313	D	0.999866	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	D	0.88342	0.2975	9	.	.	.	.	9.5561	0.39339	0.0:0.837:0.0:0.163	.	2565;2564	A6NF00;P24043	.;LAMA2_HUMAN	V	2564;2563;2564;582	ENSP00000400365:L2564V	.	L	+	1	0	LAMA2	129844218	0.999000	0.42202	0.894000	0.35097	0.372000	0.29890	2.291000	0.43540	2.599000	0.87857	0.563000	0.77884	CTT		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			G	129802525	C	G	129802525	3	3	212	1	0	0	0	0	1	0	0	0	8606	913	32	5	7908	5	LAMA2	6	129802525	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	98202797	129802525	41312542	19	14866											
SYNE1	23345	broad.mit.edu	37	chr6	152861113	152861113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttggccagatgagagttGatccattttgtgaaagttcg	10	13	11	7	1	0	4	0	3	0	2	2	5	1	4	3	1	0	2	3	1	1	5			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:152861113G>C	ENST00000367255.5	-	4	712	c.111C>G	c.(109-111)atC>atG	p.I37M	SYNE1_ENST00000448038.1_Missense_Mutation_p.I37M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I37M|SYNE1_ENST00000413186.2_Missense_Mutation_p.I37M|SYNE1_ENST00000466159.2_Missense_Mutation_p.I37M|SYNE1_ENST00000367248.3_Missense_Mutation_p.I37M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I37M|SYNE1_ENST00000367253.4_Missense_Mutation_p.I37M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I37M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	37	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGAGAGTTGATCCATTTTG	0.338										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(109-111)atC>atG		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							259	249	252					6																	152861113		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152861113G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.111C>G	6.37:g.152861113G>C	ENSP00000356224:p.Ile37Met	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.I37M|SYNE1_uc003qou.4_Missense_Mutation_p.I37M|SYNE1_uc010kjb.1_Missense_Mutation_p.I37M|SYNE1_uc003qpa.1_Missense_Mutation_p.I37M	p.I37M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	1	334	-		Ovarian(120;0.0955)	37			Actin-binding.|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.111C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278968	0.59758	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.36	5.36	0.76844	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.45126	D	0.000384	D	0.96470	0.8848	M	0.64080	1.96	0.80722	D	1	P;P;P;P;P	0.51240	0.627;0.89;0.943;0.89;0.867	P;P;P;P;P	0.59487	0.603;0.858;0.777;0.858;0.777	D	0.96550	0.9407	10	0.72032	D	0.01	.	11.9615	0.53011	0.0:0.0:0.8267:0.1733	.	37;37;37;37;37	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	37	ENSP00000356224:I37M;ENSP00000396024:I37M;ENSP00000265368:I37M;ENSP00000390975:I37M;ENSP00000341887:I37M;ENSP00000356222:I37M;ENSP00000356217:I37M;ENSP00000414510:I37M;ENSP00000446021:I37M;ENSP00000441264:I37M	ENSP00000265368:I37M	I	-	3	3	SYNE1	152902806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.375000	0.66173	2.669000	0.90835	0.655000	0.94253	ATC		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152861113	G	C	152861113	3	2	212	1	0	0	0	0	1	0	0	0	15442	1280	45	5	26952	5	SYNE1	6	152861113	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	23058588	152861113	18253954	20	14867											
GRB10	2887	broad.mit.edu	37	chr7	50674041	50674041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttacttaccactggcGtcgagaacggggacagcaag	10	8	13	10	3	0	1	0	0	0	1	1	3	0	2	1	4	4	2	1	4	4	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr7:50674041G>A	ENST00000401949.1	-	14	1734	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	GRB10_ENST00000403097.1_Missense_Mutation_p.T416M|GRB10_ENST00000439599.1_Missense_Mutation_p.T416M|GRB10_ENST00000398812.2_Missense_Mutation_p.T422M|GRB10_ENST00000406641.1_Missense_Mutation_p.T364M|GRB10_ENST00000398810.2_Missense_Mutation_p.T364M|GRB10_ENST00000357271.5_Missense_Mutation_p.T376M|GRB10_ENST00000335866.3_Missense_Mutation_p.T364M|GRB10_ENST00000402578.1_Missense_Mutation_p.T364M|GRB10_ENST00000407526.1_Missense_Mutation_p.T364M|GRB10_ENST00000402497.1_Missense_Mutation_p.T364M			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	422					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.T422M(1)|p.T416M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TACCACTGGCGTCGAGAACGG	0.517									Russell-Silver syndrome																													uc003tpi.2																			2	Substitution - Missense(2)	p.T422M(2)|p.T416M(1)	endometrium(2)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1264-1266)aCg>aTg		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							106	110	109					7																	50674041		1975	4150	6125	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50674041G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1265C>T	7.37:g.50674041G>A	ENSP00000385770:p.Thr422Met					GRB10_uc003tph.3_Missense_Mutation_p.T364M|GRB10_uc003tpj.2_Missense_Mutation_p.T376M|GRB10_uc003tpk.2_Missense_Mutation_p.T422M|GRB10_uc010kzb.2_Missense_Mutation_p.T364M|GRB10_uc003tpl.2_Missense_Mutation_p.T416M|GRB10_uc003tpm.2_Missense_Mutation_p.T364M	p.T422M	NM_005311	NP_005302	Q13322	GRB10_HUMAN			10	1311	-	Glioma(55;0.08)|all_neural(89;0.245)		422					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1265C>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620564	0.28801	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.54;-1.54;-1.68;-1.68;-1.68;-1.54;-1.68;-1.53;-1.68;-1.54;-1.68	5.34	5.34	0.76211	.	0.201005	0.52532	D	0.000063	T	0.78259	0.4255	L	0.31926	0.97	0.31484	N	0.666761	B;B;B	0.29270	0.24;0.24;0.049	B;B;B	0.29440	0.063;0.102;0.018	T	0.79266	-0.1874	10	0.56958	D	0.05	-6.8663	19.0286	0.92946	0.0:0.0:1.0:0.0	.	416;376;422	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	M	422;416;364;364;364;416;364;376;364;422;364	ENSP00000381793:T422M;ENSP00000406716:T416M;ENSP00000338543:T364M;ENSP00000381790:T364M;ENSP00000385189:T364M;ENSP00000385544:T416M;ENSP00000385366:T364M;ENSP00000349818:T376M;ENSP00000385046:T364M;ENSP00000385770:T422M;ENSP00000385748:T364M	ENSP00000338543:T364M	T	-	2	0	GRB10	50641535	0.991000	0.36638	0.009000	0.14445	0.042000	0.13812	6.235000	0.72332	2.463000	0.83235	0.655000	0.94253	ACG		0.517	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			A	50674041	G	A	50674041	3	1	212	1	0	0	0	0	1	0	0	0	6756	1145	40	1	543	1	GRB10	7	50674041	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		50674041	108464622	21	14868											
DLC1	10395	broad.mit.edu	37	chr8	12957581	12957581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgtaacagggctgggCgtgctgaccgcgctgctggt	4	9	16	12	4	0	1	0	1	0	0	2	1	1	1	2	3	3	5	2	3	1	1	rs138749997	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr8:12957581C>T	ENST00000276297.4	-	9	2674	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	DLC1_ENST00000358919.2_Silent_p.T318T|DLC1_ENST00000520226.1_Silent_p.T244T|DLC1_ENST00000512044.2_Silent_p.T352T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	755	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGCTGGGCGTGCTGACCG	0.582																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2263-2265)acG>acA		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							55	49	51					8																	12957581		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957581C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2265G>A	8.37:g.12957581C>T						DLC1_uc003wwk.1_Silent_p.T318T|DLC1_uc003wwl.1_Silent_p.T352T|DLC1_uc011kxx.1_Silent_p.T244T	p.T755T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			8	2709	-			755					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2265G>A	CCDS5989.1																																																																																				0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12957581	C	T	12957581	2	4	212	1	0	0	0	0	0	0	0	1	4550	755	27	1		1	DLC1	8	12957581	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08		12957581	133406441	22	14869											
SEMA4D	10507	broad.mit.edu	37	chr9	92003832	92003832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaggcaccttcaggcccGgggacctgagcacgaagaca	12	3	12	14	2	1	2	1	1	0	1	1	4	1	3	3	4	1	2	3	4	1	1	rs201242261		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:92003832G>T	ENST00000450295.1	-	10	1681	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	SEMA4D_ENST00000356444.2_Missense_Mutation_p.P302Q|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P302Q|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P302Q|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P302Q|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P302Q|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P302Q|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P302Q			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	302	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAGGCCCGGGGACCTGAG	0.602																																						uc004aqo.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(904-906)cCg>cAg		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.							112	114	113					9																	92003832		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92003832G>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.905C>A	9.37:g.92003832G>T	ENSP00000416523:p.Pro302Gln					SEMA4D_uc011ltm.1_Missense_Mutation_p.P302Q|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.P302Q	p.P302Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			11	1477	-			302			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.905C>A	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064019	0.20067	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	4.96	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.746260	0.13589	N	0.376774	T	0.10078	0.0247	L	0.31476	0.935	0.18873	N	0.999986	B;B	0.21753	0.005;0.06	B;B	0.23419	0.011;0.046	T	0.27739	-1.0065	10	0.21540	T	0.41	.	15.1351	0.72558	0.0:0.142:0.858:0.0	.	302;302	Q92854-2;Q92854	.;SEM4D_HUMAN	Q	302	ENSP00000344923:P302Q;ENSP00000391733:P302Q;ENSP00000411981:P302Q;ENSP00000343418:P302Q;ENSP00000416523:P302Q;ENSP00000405102:P302Q;ENSP00000348822:P302Q;ENSP00000388768:P302Q	ENSP00000344923:P302Q	P	-	2	0	SEMA4D	91193652	0.614000	0.27017	0.011000	0.14972	0.323000	0.28346	2.237000	0.43061	1.254000	0.44035	0.561000	0.74099	CCG		0.602	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		T	92003832	G	T	92003832	3	4	212	1	0	0	0	0	1	0	0	0	14034	1116	39	5	2281	5	SEMA4D	9	92003832	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		92003832	49209599	23	14870											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130670779	130670779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgcttcggggcgcctgCtcgtgtgccaggtacatctg	3	10	16	12	4	1	0	0	0	1	0	3	0	1	0	2	4	3	3	2	4	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:130670779C>T	ENST00000335791.5	-	6	1076	c.801G>A	c.(799-801)gaG>gaA	p.E267E	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.E183E	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	267					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGGGCGCCTGCTCGTGTGCCA	0.627																																						uc004bss.3																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(799-801)gaG>gaA		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.							70	72	71					9																	130670779		2203	4300	6503	SO:0001819	synonymous_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130670779C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.801G>A	9.37:g.130670779C>T						ST6GALNAC4_uc004bst.3_Silent_p.E183E	p.E267E	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN			5	1077	-			267					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP	ENST00000335791.5	37	c.801G>A	CCDS6883.1																																																																																				0.627	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		T	130670779	C	T	130670779	2	4	212	1	0	0	0	0	0	0	0	1	15225	796	28	3		3	ST6GALNAC4	9	130670779	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08	38666947	130670779	10542652	24	14871											
PKN3	29941	broad.mit.edu	37	chr9	131476566	131476566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccccctgcagctcccCgagcacaatcagccccccta	7	5	7	22	1	1	0	1	0	0	0	2	1	2	0	8	0	5	4	8	0	2	1	rs370634438		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:131476566C>T	ENST00000291906.4	+	11	1796	c.1403C>T	c.(1402-1404)cCg>cTg	p.P468L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	468	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGCAGCTCCCCGAGCACAATC	0.652													C|||	1	0.000199681	0	0	5008	,	,		13514	0.001		0	False		,,,				2504	0					uc004bvw.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1402-1404)cCg>cTg		Homo sapiens protein kinase N3 (PKN3), mRNA.		C	LEU/PRO	0,4406		0,0,2203	62	70	67		1403	4.1	0.9	9		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKN3	NM_013355.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	468/890	131476566	1,13005	2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476566C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1403C>T	9.37:g.131476566C>T	ENSP00000291906:p.Pro468Leu					PKN3_uc010myh.3_Missense_Mutation_p.P468L|PKN3_uc022bom.1_Non-coding_Transcript	p.P468L	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			10	1796	+			468			Pro-rich.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1403C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703689	0.30232	0.0	1.16E-4	ENSG00000160447	ENST00000291906	T	0.28666	1.6	4.97	4.05	0.47172	.	.	.	.	.	T	0.22936	0.0554	L	0.41236	1.265	0.38784	D	0.954828	B	0.15719	0.014	B	0.11329	0.006	T	0.07673	-1.0760	9	0.29301	T	0.29	.	8.2305	0.31595	0.0:0.819:0.0:0.181	.	468	Q6P5Z2	PKN3_HUMAN	L	468	ENSP00000291906:P468L	ENSP00000291906:P468L	P	+	2	0	PKN3	130516387	0.041000	0.20044	0.928000	0.36995	0.480000	0.33159	1.216000	0.32443	2.478000	0.83669	0.563000	0.77884	CCG		0.652	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		T	131476566	C	T	131476566	3	4	212	1	0	0	0	0	1	0	0	0	11981	652	23	2	1445	2	PKN3	9	131476566	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	805787	131476566	9736865	25	14872											
BMI1	648	broad.mit.edu	37	chr10	22615480	22615480	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaaccataatagaatgTctacattcctgtaagtaccg	14	10	6	11	1	1	1	0	0	1	1	2	1	2	1	4	0	3	2	4	0	7	6			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:22615480T>G	ENST00000376663.3	+	2	607	c.102T>G	c.(100-102)tgT>tgG	p.C34W	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.C177W	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	34					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TAATAGAATGTCTACATTCCT	0.413																																						uc009xkg.3																			0											c.(529-531)tgT>tgG		Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.							209	186	194					10																	22615480		2203	4300	6503	SO:0001583	missense	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22615480T>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.102T>G	10.37:g.22615480T>G	ENSP00000365851:p.Cys34Trp					COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.C34W	p.C177W	NM_001204062	NP_001190991	P35226	BMI1_HUMAN			5	566	+			34			Interaction with E4F1.		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	c.531T>G	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836132	0.50951	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	D;D;D;D	0.99741	-6.43;-6.43;-6.43;-6.6	5.67	3.35	0.38373	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.042632	0.85682	D	0.000000	D	0.99857	0.9933	H	0.99937	4.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97160	0.9837	10	0.87932	D	0	-3.8278	8.1708	0.31254	0.0:0.2331:0.0:0.7669	.	34;34	Q5U0M5;P35226	.;BMI1_HUMAN	W	34;18;34;34;34;34;11	ENSP00000365851:C34W;ENSP00000397912:C34W;ENSP00000399220:C34W;ENSP00000390768:C11W	ENSP00000365851:C34W	C	+	3	2	BMI1	22655486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.885000	0.28227	0.445000	0.26639	0.528000	0.53228	TGT		0.413	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		G	22615480	T	G	22615480	3	3	212	1	0	0	0	0	1	0	0	0	1455	1673	58	5	104	5	BMI1	10	22615480	Missense_Mutation	SNP	T	TCGA-28-5211-01C-11D-1845-08		22615480	112919267	26	14873											
WDR11	55717	broad.mit.edu	37	chr10	122622305	122622305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatccaagcctccctcAggccctgggaaaaaagttta	11	8	7	15	0	1	0	1	0	0	0	4	1	4	1	6	2	1	1	6	2	5	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:122622305A>G	ENST00000263461.6	+	5	831	c.585A>G	c.(583-585)tcA>tcG	p.S195S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGCCTCCCTCAGGCCCTGGGA	0.443																																						uc021pzt.1																			0		p.S195L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(583-585)tcA>tcG		Homo sapiens WD repeat domain 11 (WDR11), mRNA.							132	146	141					10																	122622305		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122622305A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.585A>G	10.37:g.122622305A>G						WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	p.S195S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			4	831	+			195					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.585A>G	CCDS7619.1																																																																																				0.443	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			G	122622305	A	G	122622305	2	3	212	1	0	0	0	0	0	0	0	1	17270	175	7	4		4	WDR11	10	122622305	Silent	SNP	A	TCGA-28-5211-01C-11D-1845-08	100006825	122622305	12912442	27	14874											
CDON	50937	broad.mit.edu	37	chr11	125853903	125853903	+	Frame_Shift_Del	DEL	C	C	-																															ctggcagggctggttgcaggCcccacatttcctccacttcc																								rs139149075		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr11:125853903delC	ENST00000392693.3	-	16	2986	c.2859delG	c.(2857-2859)gggfs	p.G953fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.G953fs|CDON_ENST00000531738.1_Frame_Shift_Del_p.G330fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	953					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTTGCAGGCCCCACATTTC	0.463																																						uc009zbw.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2857-2859)gggfs		Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.							68	62	64					11																	125853903		2201	4299	6500	SO:0001589	frameshift_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125853903delC	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2859delG	11.37:g.125853903delC	ENSP00000376458:p.Gly953fs					CDON_uc001qdb.4_Frame_Shift_Del_p.G330fs|CDON_uc001qdc.4_Frame_Shift_Del_p.G953fs	p.G953fs	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	15	2987	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	953					O14631	Frame_Shift_Del	DEL	ENST00000392693.3	37	c.2859delG	CCDS58192.1																																																																																				0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		-	125853903	C	-	125853903	7	5	212	1	0	1	0	1	0	0	0	0	3170	726	26	0	955	0	CDON	11	125853903	Frame_Shift_Del	DEL	C	TCGA-28-5211-01C-11D-1845-08		125853903	9152613	28	14875											
LRP1	4035	broad.mit.edu	37	chr12	57603612	57603612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcctgagccacgccTctgacgtggtcctttaccat	6	9	12	14	2	1	2	0	2	1	0	2	2	2	2	5	3	2	0	5	3	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:57603612T>C	ENST00000243077.3	+	80	12866	c.12400T>C	c.(12400-12402)Tct>Cct	p.S4134P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4134					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGCCACGCCTCTGACGTGGT	0.572																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12400-12402)Tct>Cct		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						63	60	61					12																	57603612		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57603612T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12400T>C	12.37:g.57603612T>C	ENSP00000243077:p.Ser4134Pro						p.S4134P	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	79	12866	+			4134					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12400T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.244925	0.39697	.	.	ENSG00000123384	ENST00000243077	D	0.91843	-2.92	4.45	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.172475	0.37348	N	0.002127	D	0.84999	0.5597	L	0.33485	1.01	0.80722	D	1	P	0.36048	0.534	B	0.34138	0.176	T	0.82581	-0.0386	10	0.35671	T	0.21	.	7.4978	0.27500	0.301:0.0:0.0:0.699	.	4134	Q07954	LRP1_HUMAN	P	4134	ENSP00000243077:S4134P	ENSP00000243077:S4134P	S	+	1	0	LRP1	55889879	1.000000	0.71417	0.993000	0.49108	0.486000	0.33341	4.199000	0.58426	2.011000	0.59026	0.455000	0.32223	TCT		0.572	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		C	57603612	T	C	57603612	3	2	212	1	0	0	0	0	1	0	0	0	8951	1551	54	4	12718	4	LRP1	12	57603612	Missense_Mutation	SNP	T	TCGA-28-5211-01C-11D-1845-08		57603612	76248283	29	14876											
LUM	4060	broad.mit.edu	37	chr12	91498030	91498030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcgattgccatccaaaCgcaaatgcttgatcttggag	12	10	10	9	2	1	2	0	1	1	1	2	4	2	3	2	1	4	2	2	1	2	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:91498030C>T	ENST00000266718.4	-	3	1383	c.929G>A	c.(928-930)cGt>cAt	p.R310H	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	310					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R310L(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GCCATCCAAACGCAAATGCTT	0.373																																						uc001tbm.3																			2	Substitution - Missense(2)	p.R310L(4)	lung(2)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(928-930)cGt>cAt		Homo sapiens lumican (LUM), mRNA.							105	100	102					12																	91498030		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91498030C>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.929G>A	12.37:g.91498030C>T	ENSP00000266718:p.Arg310His						p.R310H	NM_002345	NP_002336	P51884	LUM_HUMAN			2	1318	-			310					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.929G>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843078	0.91197	.	.	ENSG00000139329	ENST00000266718	T	0.18338	2.22	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49244	-0.8960	10	0.87932	D	0	-18.0187	18.3106	0.90199	0.0:1.0:0.0:0.0	.	310	P51884	LUM_HUMAN	H	310	ENSP00000266718:R310H	ENSP00000266718:R310H	R	-	2	0	LUM	90022161	1.000000	0.71417	0.980000	0.43619	0.790000	0.44656	7.146000	0.77373	2.398000	0.81561	0.591000	0.81541	CGT		0.373	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		T	91498030	C	T	91498030	3	4	212	1	0	0	0	0	1	0	0	0	9085	536	19	1	91	1	LUM	12	91498030	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	33894418	91498030	42353865	30	14877											
SYNE2	23224	broad.mit.edu	37	chr14	64497733	64497733	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatcttttctccactcgtaGgaactagagaatagactcag	13	11	7	10	1	3	2	1	0	2	2	5	4	3	3	1	1	1	1	1	1	6	5			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr14:64497733G>A	ENST00000344113.4	+	45	7091		c.e45-1		SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCACTCGTAGGAACTAGAGA	0.353																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e45-1		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							67	64	65					14																	64497733		1821	4078	5899	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64497733G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6880-1G>A	14.37:g.64497733G>A						SYNE2_uc001xgm.3_Splice_Site_p.E2294_splice|SYNE2_uc021ruh.1_Splice_Site_p.E2294_splice	p.E2294_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7110	+			2294					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.6880_splice	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543848	0.45280	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7628	0.78101	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63567486	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	5.769000	0.68865	2.456000	0.83038	0.313000	0.20887	.		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	A	64497733	G	A	64497733	5	1	212	1	0	0	0	0	0	0	1	0	15443	1014	35	3	7053	3	SYNE2	14	64497733	Splice_Site	SNP	G	TCGA-28-5211-01C-11D-1845-08		64497733	42851807	31	14878											
GJD2	57369	broad.mit.edu	37	chr15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaacttcttatcttctcGtttgcccccaccactgcccc	5	14	4	18	1	3	0	0	0	3	0	4	0	3	0	5	0	4	2	5	0	2	5			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:35045227G>A	ENST00000290374.4	-	2	894	c.418C>T	c.(418-420)Cga>Tga	p.R140*	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	140					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532																																						uc001zis.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(418-420)Cga>Tga		Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.							130	135	133					15																	35045227		2201	4298	6499	SO:0001587	stop_gained	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045227G>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.418C>T	15.37:g.35045227G>A	ENSP00000290374:p.Arg140*					AK092087_uc001zit.1_5'Flank	p.R140*	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	1	418	-		all_lung(180;9.67e-07)	140					Q2M241|Q9P2R0	Nonsense_Mutation	SNP	ENST00000290374.4	37	c.418C>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	39	7.644941	0.98409	.	.	ENSG00000159248	ENST00000290374	.	.	.	5.44	3.48	0.39840	.	1.388510	0.04567	N	0.392577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.2373	0.54522	0.0:0.0:0.6906:0.3094	.	.	.	.	X	140	.	ENSP00000290374:R140X	R	-	1	2	GJD2	32832519	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	2.424000	0.44714	0.778000	0.33520	0.650000	0.86243	CGA		0.532	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			A	35045227	G	A	35045227	4	1	212	1	0	0	0	0	0	1	0	0	6417	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		35045227	67486165	32	14879											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651232	84651232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgggagaaggatggccGttgcctgcagaactccaaac	11	6	13	11	1	0	2	0	0	0	2	1	4	1	3	4	3	4	2	4	3	3	1	rs147113160		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:84651232G>A	ENST00000286744.5	+	21	3076	c.2852G>A	c.(2851-2853)cGt>cAt	p.R951H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R951H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	951	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATGGCCGTTGCCTGCAG	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		19321	0		0	False		,,,				2504	0					uc002bjz.4																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2851-2853)cGt>cAt		Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.		G	HIS/ARG	0,4406		0,0,2203	107	106	106		2852	-3.9	0.4	15	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADAMTSL3	NM_207517.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	951/1692	84651232	1,13005	2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651232G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2852G>A	15.37:g.84651232G>A	ENSP00000286744:p.Arg951His					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R951H	p.R951H	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		20	3076	+			951			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2852G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661534	0.29515	0.0	1.16E-4	ENSG00000156218	ENST00000286744	T	0.78003	-1.14	5.05	-3.93	0.04143	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.737426	0.11678	N	0.540087	T	0.69378	0.3104	L	0.53561	1.675	0.09310	N	0.999996	B;B	0.14012	0.006;0.009	B;B	0.12837	0.008;0.008	T	0.55315	-0.8160	10	0.29301	T	0.29	.	13.5384	0.61659	0.7761:0.0:0.2239:0.0	.	951;951	P82987-2;P82987	.;ATL3_HUMAN	H	951	ENSP00000286744:R951H	ENSP00000286744:R951H	R	+	2	0	ADAMTSL3	82442236	0.009000	0.17119	0.402000	0.26371	0.979000	0.70002	0.457000	0.21875	-0.595000	0.05828	0.563000	0.77884	CGT		0.532	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		A	84651232	G	A	84651232	3	1	212	1	0	0	0	0	1	0	0	0	276	1145	40	1	2930	1	ADAMTSL3	15	84651232	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	49606005	84651232	17880160	33	14880											
MCTP2	55784	broad.mit.edu	37	chr15	94943189	94943189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttactccccgggaaaagCgctttgttgaagacagccgc	9	10	10	12	3	0	2	0	1	0	1	1	3	1	3	3	1	3	2	3	1	4	4	rs199555430		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:94943189C>T	ENST00000357742.4	+	15	1930	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	MCTP2_ENST00000557742.1_Missense_Mutation_p.R232C|MCTP2_ENST00000331706.4_Missense_Mutation_p.R232C|MCTP2_ENST00000451018.3_Missense_Mutation_p.R644C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	644					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCGGGAAAAGCGCTTTGTTGA	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		18826	0		0	False		,,,				2504	0					uc002btj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1930-1932)Cgc>Tgc		Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	4,4390	8.1+/-20.4	0,4,2193	93	93	93		1930,694,1930	4.3	1	15		93	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	MCTP2	NM_001159643.1,NM_001159644.1,NM_018349.3	180,180,180	0,5,6490	TT,TC,CC		0.0116,0.091,0.0385	possibly-damaging,possibly-damaging,possibly-damaging	644/824,232/307,644/879	94943189	5,12985	2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94943189C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1930C>T	15.37:g.94943189C>T	ENSP00000350377:p.Arg644Cys					MCTP2_uc010boj.3_Missense_Mutation_p.R373C|MCTP2_uc010bok.3_Missense_Mutation_p.R644C|MCTP2_uc002btk.4_Missense_Mutation_p.R232C|MCTP2_uc002btl.3_Missense_Mutation_p.R232C	p.R644C	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		14	1995	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		644					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1930C>T	CCDS32338.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.89	3.910970	0.72983	9.1E-4	1.16E-4	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.68331	-0.32;-0.07;-0.17	5.22	4.31	0.51392	C2 calcium/lipid-binding domain, CaLB (1);	0.150976	0.64402	D	0.000019	T	0.75989	0.3925	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69142	0.962;0.95;0.927	T	0.78375	-0.2228	10	0.87932	D	0	.	13.7373	0.62827	0.0:0.9252:0.0:0.0748	.	644;232;644	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	C	644;232;644	ENSP00000395109:R644C;ENSP00000329646:R232C;ENSP00000350377:R644C	ENSP00000329646:R232C	R	+	1	0	MCTP2	92744193	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.698000	0.54771	1.196000	0.43129	-0.251000	0.11542	CGC		0.458	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94943189	C	T	94943189	3	4	212	1	0	0	0	0	1	0	0	0	9401	768	27	1	1988	1	MCTP2	15	94943189	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	10291957	94943189	7588203	34	14881											
ABCC6	368	broad.mit.edu	37	chr16	16272807	16272807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgctgcttctggcctcCggagagattcatgccctgtg	5	10	12	14	2	2	1	1	0	1	1	3	3	3	2	4	2	3	2	4	2	0	2	rs72653787		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:16272807C>T	ENST00000205557.7	-	18	2292	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	ABCC6_ENST00000574094.1_5'Flank	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	755	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> R (in PXE; dbSNP:rs72653787). {ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TTCTGGCCTCCGGAGAGATTC	0.627																																						uc002den.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM073961	ABCC6	M	rs72653787	c.(2263-2265)Gga>Aga		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.		C	ARG/GLY	0,4390		0,0,2195	30	26	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2263	4	0.9	16	dbSNP_130	27	1,8593		0,1,4296	no	missense	ABCC6	NM_001171.5	125	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	755/1504	16272807	1,12983	2195	4297	6492	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16272807C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2263G>A	16.37:g.16272807C>T	ENSP00000205557:p.Gly755Arg					ABCC6_uc010bvo.3_Non-coding_Transcript	p.G755R	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2300	-			755			ABC transporter 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.2263G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183081	0.57800	0.0	1.16E-4	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.95205	-2.92;-3.64	4.97	4.02	0.46733	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.47093	U	0.000253	D	0.97589	0.9210	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97988	1.0353	10	0.87932	D	0	.	12.6183	0.56590	0.0:0.9187:0.0:0.0813	.	755	O95255	MRP6_HUMAN	R	755	ENSP00000205557:G755R;ENSP00000405002:G755R	ENSP00000205557:G755R	G	-	1	0	ABCC6	16180308	1.000000	0.71417	0.858000	0.33744	0.257000	0.26127	7.366000	0.79548	1.088000	0.41272	0.467000	0.42956	GGA		0.627	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16272807	C	T	16272807	3	4	212	1	0	0	0	0	1	0	0	0	57	661	23	2	2304	2	ABCC6	16	16272807	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		16272807	74081946	35	14882											
C16orf93	90835	broad.mit.edu	37	chr16	30770347	30770347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcacttggctctggctctGgtggggccactgtctctagt	3	13	12	13	0	4	0	1	0	3	0	5	0	4	0	2	5	0	2	2	5	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:30770347G>C	ENST00000543610.1	-	8	1764	c.803C>G	c.(802-804)cCa>cGa	p.P268R	PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Missense_Mutation_p.P333R	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	268										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTCTGGCTCTGGTGGGGCCAC	0.537																																						uc002dzm.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(802-804)cCa>cGa		Homo sapiens chromosome 16 open reading frame 93 (C16orf93), transcript variant 1, mRNA.							173	159	164					16																	30770347		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30770347G>C	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.803C>G	16.37:g.30770347G>C	ENSP00000437532:p.Pro268Arg					PHKG2_uc021tgo.1_Intron|PHKG2_uc002dzk.2_3'UTR|C16orf93_uc002dzo.3_Missense_Mutation_p.P231R|C16orf93_uc021tgp.1_Silent_p.T154T|RNF40_uc010caa.3_5'Flank|RNF40_uc002dzq.3_5'Flank|RNF40_uc010cab.3_5'Flank|RNF40_uc010vfa.2_5'Flank	p.P268R	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			7	1299	-			268					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.803C>G	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766152	0.15983	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	4.76	3.8	0.43715	.	0.500851	0.19572	N	0.111061	T	0.33527	0.0866	N	0.19112	0.55	0.26651	N	0.972093	P;P;P	0.51351	0.815;0.944;0.815	B;P;P	0.56042	0.387;0.79;0.592	T	0.07635	-1.0762	9	0.24483	T	0.36	-0.3617	8.9043	0.35515	0.1015:0.0:0.8985:0.0	.	231;40;268	A1A4V9-2;A1A4V9-3;A1A4V9	.;.;CP093_HUMAN	R	231;268	.	ENSP00000347050:P231R	P	-	2	0	C16orf93	30677848	0.878000	0.30173	0.956000	0.39512	0.049000	0.14656	2.898000	0.48672	1.358000	0.45922	0.655000	0.94253	CCA		0.537	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		C	30770347	G	C	30770347	3	2	212	1	0	0	0	0	1	0	0	0	1846	1348	47	5	200	5	C16orf93	16	30770347	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	14497540	30770347	59584406	36	14883											
MYH10	4628	broad.mit.edu	37	chr17	8390908	8390908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccgcctcgagctccCgcacctaatggacaacatcg	9	6	8	18	4	0	0	0	0	0	0	4	2	2	1	5	1	3	3	5	1	2	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:8390908C>A	ENST00000269243.4	-	34	4934	c.4796G>T	c.(4795-4797)cGg>cTg	p.R1599L	MYH10_ENST00000360416.3_Missense_Mutation_p.R1630L|MYH10_ENST00000379980.4_Missense_Mutation_p.R1615L|MYH10_ENST00000396239.1_Missense_Mutation_p.R1620L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1599					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCGAGCTCCCGCACCTAATG	0.542																																						uc002glm.3																			0		p.E1630K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4888-4890)cGg>cTg		Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.							155	159	158					17																	8390908		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8390908C>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4796G>T	17.37:g.8390908C>A	ENSP00000269243:p.Arg1599Leu					MYH10_uc002gll.3_Missense_Mutation_p.R1599L|MYH10_uc010cnx.3_Missense_Mutation_p.R1608L	p.R1630L	NM_005964	NP_005955	P35580	MYH10_HUMAN			35	4985	-			1599					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4889G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538511	0.96474	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	4.99	4.99	0.66335	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.90082	3.085	0.80722	D	1	D;P;D	0.58620	0.983;0.956;0.983	D;P;D	0.64776	0.929;0.884;0.929	D	0.91689	0.5364	10	0.87932	D	0	.	18.8124	0.92063	0.0:1.0:0.0:0.0	.	1608;1630;1599	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	1599;1630;1620;1615	ENSP00000269243:R1599L;ENSP00000353590:R1630L;ENSP00000379539:R1620L;ENSP00000369315:R1615L	ENSP00000269243:R1599L	R	-	2	0	MYH10	8331633	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.572000	0.82409	2.754000	0.94517	0.655000	0.94253	CGG		0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			A	8390908	C	A	8390908	3	1	212	1	0	0	0	0	1	0	0	0	10030	652	23	5	1166	5	MYH10	17	8390908	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		8390908	72804302	37	14884											
GLP2R	9340	broad.mit.edu	37	chr17	9792806	9792806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccaagaagctctcGgaaggagatggcgctgagaa	14	6	13	8	2	1	3	0	1	1	3	3	6	2	4	1	3	1	2	1	3	5	0	rs184873596		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:9792806G>A	ENST00000262441.5	+	13	1959	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	GLP2R_ENST00000574745.1_Silent_p.S302S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	482					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	AGAAGCTCTCGGAAGGAGATG	0.597													G|||	1	0.000199681	0	0	5008	,	,		19622	0		0.001	False		,,,				2504	0					uc002gmd.1																			0		p.L481L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1444-1446)tcG>tcA		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)	G		0,4406		0,0,2203	58	58	58		1446	-11.1	0	17		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLP2R	NM_004246.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		482/554	9792806	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792806G>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1446G>A	17.37:g.9792806G>A							p.S482S	NM_004246	NP_004237	O95838	GLP2R_HUMAN			12	1446	+			482					Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.1446G>A	CCDS11150.1																																																																																				0.597	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9792806	G	A	9792806	2	1	212	1	0	0	0	0	0	0	0	1	6453	1103	39	2		2	GLP2R	17	9792806	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	1401898	9792806	71402404	38	14885											
KRT35	3886	broad.mit.edu	37	chr17	39633981	39633981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgccagggtggattccaAagcatctctctgtgagggca	8	10	12	11	0	3	1	0	1	3	0	5	2	4	2	2	3	2	2	2	3	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:39633981A>G	ENST00000393989.1	-	6	1051	c.1009T>C	c.(1009-1011)Ttg>Ctg	p.L337L	KRT35_ENST00000246639.2_Silent_p.L307L	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	337	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GTGGATTCCAAAGCATCTCTC	0.577																																						uc002hws.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1009-1011)Ttg>Ctg		Homo sapiens keratin 35 (KRT35), mRNA.							32	35	34					17																	39633981		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633981A>G	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1009T>C	17.37:g.39633981A>G							p.L337L	NM_002280	NP_002271	Q92764	KRT35_HUMAN			5	1052	-		Breast(137;0.000286)	337			Coil 2.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.1009T>C	CCDS11394.2																																																																																				0.577	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		G	39633981	A	G	39633981	2	3	212	1	0	0	0	0	0	0	0	1	8472	11	1	4		4	KRT35	17	39633981	Silent	SNP	A	TCGA-28-5211-01C-11D-1845-08	29841175	39633981	41561229	39	14886											
ENGASE	64772	broad.mit.edu	37	chr17	77073856	77073856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttaatgtggccctggAgcccctggcgtgtcgccagc	4	10	14	13	2	0	0	0	0	0	0	1	1	0	1	4	4	2	1	4	4	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:77073856A>G	ENST00000579016.1	+	3	326	c.326A>G	c.(325-327)gAg>gGg	p.E109G	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	109						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GTGGCCCTGGAGCCCCTGGCG	0.592																																						uc002jwv.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(325-327)gAg>gGg		Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.							59	62	61					17																	77073856		1936	4138	6074	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073856A>G	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.326A>G	17.37:g.77073856A>G	ENSP00000462333:p.Glu109Gly					ENGASE_uc002jwu.1_Missense_Mutation_p.E109G|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	p.E109G	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			2	334	+			109					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.326A>G	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	8.523	0.869192	0.17322	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	-0.441	0.12257	.	0.336644	0.30365	N	0.009785	T	0.17492	0.0420	L	0.27053	0.805	0.20563	N	0.99989	B;B	0.15141	0.002;0.012	B;B	0.15052	0.002;0.012	T	0.08106	-1.0738	9	0.37606	T	0.19	-6.138	0.5499	0.00661	0.2855:0.1136:0.222:0.3788	.	109;109	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	G	109	.	ENSP00000308158:E109G	E	+	2	0	ENGASE	74585451	0.992000	0.36948	0.818000	0.32626	0.335000	0.28730	1.035000	0.30216	-0.040000	0.13580	0.460000	0.39030	GAG		0.592	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		G	77073856	A	G	77073856	3	3	212	1	0	0	0	0	1	0	0	0	5118	304	11	4	336	4	ENGASE	17	77073856	Missense_Mutation	SNP	A	TCGA-28-5211-01C-11D-1845-08	37439875	77073856	4121354	40	14887											
SLC1A6	6511	broad.mit.edu	37	chr19	15067457	15067457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctgaccccccaggaCggccatgtcttccatctcca	7	7	8	19	1	2	1	0	1	2	0	4	2	3	2	7	2	1	1	7	2	0	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:15067457C>T	ENST00000221742.3	-	6	1007	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.V270I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	334					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V334I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCCCCCAGGACGGCCATGTCT	0.582																																						uc002naa.1																			1	Substitution - Missense(1)	p.V334I(2)	pancreas(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1000-1002)Gtc>Atc		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						130	114	120					19																	15067457		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067457C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1000G>A	19.37:g.15067457C>T	ENSP00000221742:p.Val334Ile					SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V270I	p.V334I	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	1007	-			334					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1000G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.332150	0.24167	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58940	0.3;0.34	3.99	3.99	0.46301	.	0.353602	0.29159	N	0.012978	T	0.52773	0.1755	L	0.39020	1.185	0.34985	D	0.754498	P;B	0.45957	0.869;0.041	P;B	0.45913	0.497;0.028	T	0.67051	-0.5768	10	0.51188	T	0.08	-23.2893	13.9426	0.64064	0.0:1.0:0.0:0.0	.	270;334	E7EV13;P48664	.;EAA4_HUMAN	I	270;334	ENSP00000409386:V270I;ENSP00000221742:V334I	ENSP00000221742:V334I	V	-	1	0	SLC1A6	14928457	0.934000	0.31675	0.408000	0.26446	0.839000	0.47603	1.813000	0.38962	2.238000	0.73509	0.609000	0.83330	GTC		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15067457	C	T	15067457	3	4	212	1	0	0	0	0	1	0	0	0	14436	536	19	1	710	1	SLC1A6	19	15067457	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		15067457	44061526	41	14888											
PTPRH	5794	broad.mit.edu	37	chr19	55698964	55698964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggctgtggcccaccaggGagagttgctggggatgcagg	7	7	18	9	0	0	1	0	0	0	1	0	3	0	2	2	6	2	4	2	6	0	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:55698964G>A	ENST00000376350.3	-	14	2505	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	PTPRH_ENST00000263434.5_Missense_Mutation_p.S650F	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	828	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCCCACCAGGGAGAGTTGCTG	0.587																																						uc002qjq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2482-2484)tCc>tTc		Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.							78	66	70					19																	55698964		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55698964G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2483C>T	19.37:g.55698964G>A	ENSP00000365528:p.Ser828Phe					PTPRH_uc010esv.3_Missense_Mutation_p.S650F|BC034929_uc002qjr.3_5'Flank	p.S828F	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	13	2556	-		Renal(1328;0.245)	828			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2483C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810166	0.32053	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11169	2.8;2.8	5.11	-1.68	0.08212	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	1.252950	0.05986	N	0.645225	T	0.10035	0.0246	L	0.52126	1.63	0.09310	N	1	B;P	0.36199	0.087;0.543	B;B	0.27887	0.034;0.084	T	0.36359	-0.9751	10	0.66056	D	0.02	.	8.9578	0.35829	0.0:0.3667:0.2589:0.3744	.	650;828	C9JCH2;Q9HD43	.;PTPRH_HUMAN	F	828;650	ENSP00000365528:S828F;ENSP00000263434:S650F	ENSP00000263434:S650F	S	-	2	0	PTPRH	60390776	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-0.945000	0.03909	-0.318000	0.08665	0.655000	0.94253	TCC		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55698964	G	A	55698964	3	1	212	1	0	0	0	0	1	0	0	0	12803	1174	41	3	892	3	PTPRH	19	55698964	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	40631507	55698964	3430019	42	14889											
ARHGAP6	395	broad.mit.edu	37	chrX	11682473	11682473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccattggggcctcccccgGatgaacagaggatgctggaa	9	7	14	11	1	0	2	0	1	0	1	1	5	1	5	4	5	3	1	4	5	2	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:11682473G>A	ENST00000337414.4	-	1	1348	c.476C>T	c.(475-477)tCc>tTc	p.S159F	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S159F|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S159F	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	159					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCCTCCCCCGGATGAACAGAG	0.657																																						uc004cup.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(475-477)tCc>tTc		Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.							25	27	26					X																	11682473		2202	4300	6502	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682473G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.476C>T	X.37:g.11682473G>A	ENSP00000338967:p.Ser159Phe					ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.S159F	p.S159F	NM_013427	NP_038286	O43182	RHG06_HUMAN			0	1349	-			159					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.476C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128040	0.37533	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.25912	1.97;1.89;1.77	4.44	4.44	0.53790	.	.	.	.	.	T	0.18676	0.0448	N	0.14661	0.345	0.80722	D	1	P;P	0.37864	0.514;0.61	B;B	0.41236	0.351;0.28	T	0.06972	-1.0797	9	0.66056	D	0.02	.	11.3794	0.49748	0.0:0.0:1.0:0.0	.	159;159	O43182-2;O43182	.;RHG06_HUMAN	F	159	ENSP00000338967:S159F;ENSP00000370094:S159F;ENSP00000370108:S159F	ENSP00000338967:S159F	S	-	2	0	ARHGAP6	11592394	0.424000	0.25490	0.852000	0.33557	0.399000	0.30720	2.946000	0.49050	2.062000	0.61559	0.600000	0.82982	TCC		0.657	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		A	11682473	G	A	11682473	3	1	212	1	0	0	0	0	1	0	0	0	887	1174	41	3	2622	3	ARHGAP6	23	11682473	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		11682473	143588087	43	14890											
MAGEC2	51438	broad.mit.edu	37	chrX	141291609	141291609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaagaggatgtggaGaaagaagagggggaaaatac	19	4	16	2	0	1	5	1	0	0	5	1	9	1	7	0	4	1	0	0	4	6	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:141291609G>T	ENST00000247452.3	-	3	512	c.165C>A	c.(163-165)ttC>ttA	p.F55L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	55	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGTGGAGAAAGAAGAGG	0.512										HNSCC(46;0.14)																												uc022cfj.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(163-165)ttC>ttA		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							87	89	89					X																	141291609		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291609G>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.165C>A	X.37:g.141291609G>T	ENSP00000354660:p.Phe55Leu	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.F55L	p.F55L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	165	-	Acute lymphoblastic leukemia(192;6.56e-05)		55			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.165C>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.013	-1.646379	0.00792	.	.	ENSG00000046774	ENST00000247452	T	0.02121	4.44	0.897	-1.79	0.07932	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48293	-0.9048	9	0.11485	T	0.65	.	4.6481	0.12582	0.0:0.0:0.4728:0.5271	.	55	Q9UBF1	MAGC2_HUMAN	L	55	ENSP00000354660:F55L	ENSP00000354660:F55L	F	-	3	2	MAGEC2	141119275	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.145000	0.01295	-1.105000	0.03011	-0.769000	0.03391	TTC		0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		T	141291609	G	T	141291609	3	4	212	1	0	0	0	0	1	0	0	0	9181	933	33	5	960	5	MAGEC2	23	141291609	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	129609136	141291609	13978951	44	14891											
TAS1R1	80835	broad.mit.edu	37	chr1	6634905	6634905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactggtcaggggatctGcattgctttcaaggacatca	9	10	12	10	0	4	0	3	0	1	0	4	2	4	2	1	5	2	2	1	5	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:6634905G>A	ENST00000333172.6	+	3	906	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.C238Y	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	238					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGGATCTGCATTGCTTTC	0.622																																						uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(712-714)tGc>tAc		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.							94	97	96					1																	6634905		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634905G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.713G>A	1.37:g.6634905G>A	ENSP00000331867:p.Cys238Tyr					TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.C160Y	p.C238Y	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	809	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	238					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.713G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.248193|4.248193	0.80024|0.80024	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000333172;ENST00000328191	.|D;D	.|0.88586	.|-2.4;-2.4	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96237|0.96237	0.8773|0.8773	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97261|0.97261	0.9904|0.9904	5|10	.|0.87932	.|D	.|0	.|.	18.1607|18.1607	0.89707|0.89707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|238;238	.|Q7RTX1-3;Q7RTX1	.|.;TS1R1_HUMAN	T|Y	164|238	.|ENSP00000331867:C238Y;ENSP00000327705:C238Y	.|ENSP00000327705:C238Y	A|C	+|+	1|2	0|0	TAS1R1|TAS1R1	6557492|6557492	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.815000|0.815000	0.46073|0.46073	9.545000|9.545000	0.98095|0.98095	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.622	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			A	6634905	G	A	6634905	3	1	213	1	0	0	0	0	1	0	0	0	15559	1319	46	3	723	3	TAS1R1	1	6634905	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		6634905	242615716	1	14892											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808936	18808936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctgatcctgcagcgccgGctccggggccgccagtacct	5	6	14	16	4	0	1	0	1	0	0	2	2	2	1	6	3	4	4	6	3	1	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:18808936G>A	ENST00000400664.1	+	1	1513	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	487						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCGCCGGCTCCGGGGCC	0.662																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1459-1461)cgG>cgA		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							29	35	33					1																	18808936		2196	4293	6489	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808936G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1461G>A	1.37:g.18808936G>A						KLHDC7A_uc009vpg.3_Silent_p.R269R	p.R487R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	1513	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	487					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1461G>A	CCDS185.2																																																																																				0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18808936	G	A	18808936	2	1	213	1	0	0	0	0	0	0	0	1	8360	1190	42	3		3	KLHDC7A	1	18808936	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	12174031	18808936	230441685	2	14893											
RSPO1	284654	broad.mit.edu	37	chr1	38079485	38079485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgcgtgtccgctcctcGgagcccctccggaaaccaca	7	6	9	19	4	0	0	0	0	0	0	4	2	3	2	7	2	3	1	7	2	1	0			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:38079485G>A	ENST00000401069.1	-	6	1228	c.516C>T	c.(514-516)tcC>tcT	p.S172S	RSPO1_ENST00000373059.1_Silent_p.S145S|RSPO1_ENST00000401068.1_Silent_p.S172S|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000356545.2_Silent_p.S172S|RSPO1_ENST00000401071.2_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	172	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCGCTCCTCGGAGCCCCTCC	0.632																																					GBM(122;680 2230 27822 42821)	uc001cbl.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(514-516)tcC>tcT		Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.							48	53	51					1																	38079485		1974	4160	6134	SO:0001819	synonymous_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079485G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.516C>T	1.37:g.38079485G>A						RSPO1_uc009vvf.2_Silent_p.S145S|RSPO1_uc001cbm.2_Silent_p.S172S|RSPO1_uc009vvg.2_Intron	p.S172S	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN			6	1408	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	172			TSP type-1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	c.516C>T	CCDS41304.1																																																																																				0.632	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		A	38079485	G	A	38079485	2	1	213	1	0	0	0	0	0	0	0	1	13709	1103	39	2		2	RSPO1	1	38079485	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	19270549	38079485	211171136	3	14894											
MACF1	23499	broad.mit.edu	37	chr1	39799225	39799225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgtgccaagtcacactgCcgtgaagcttatggagaagc	11	9	11	10	1	1	2	1	1	0	1	1	3	1	2	2	1	4	1	2	1	4	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:39799225C>T	ENST00000372915.3	+	36	7067	c.6980C>T	c.(6979-6981)gCc>gTc	p.A2327V	MACF1_ENST00000567887.1_Missense_Mutation_p.A2359V|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A762V|MACF1_ENST00000564288.1_Missense_Mutation_p.A2322V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2327					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTCACACTGCCGTGAAGCTT	0.423																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2284-2286)gCc>gTc		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							76	76	76					1																	39799225		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799225C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6980C>T	1.37:g.39799225C>T	ENSP00000362006:p.Ala2327Val					MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	p.A762V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		0	2285	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2327					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2285C>T		.	.	.	.	.	.	.	.	.	.	C	16.49	3.136706	0.56936	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.77229	-1.08;-1.08	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000061	D	0.87853	0.6282	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88588	0.3141	10	0.72032	D	0.01	.	19.3378	0.94326	0.0:1.0:0.0:0.0	.	2327	Q9UPN3	MACF1_HUMAN	V	2327;762	ENSP00000362006:A2327V;ENSP00000289893:A762V	ENSP00000289893:A762V	A	+	2	0	MACF1	39571812	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.810000	0.86072	2.561000	0.86390	0.563000	0.77884	GCC		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39799225	C	T	39799225	3	4	213	1	0	0	0	0	1	0	0	0	9144	739	26	3	7056	3	MACF1	1	39799225	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	1719740	39799225	209451396	4	14895											
MOBKL2C	148932	broad.mit.edu	37	chr1	47078629	47078629	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccttcgatccagtccAtgagcaatgccatatagcgc	10	9	10	12	2	0	2	0	2	0	0	3	3	2	2	4	1	3	1	4	1	3	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:47078629A>G	ENST00000319928.3	-	2	595	c.365T>C	c.(364-366)aTg>aCg	p.M122T	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.M174T|MOB3C_ENST00000371940.1_Missense_Mutation_p.M145T|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	122							metal ion binding (GO:0046872)										GATCCAGTCCATGAGCAATGC	0.652																																						uc001cqe.4																			0											c.(520-522)aTg>aCg		Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.							43	47	46					1																	47078629		2202	4298	6500	SO:0001583	missense	148932						metal ion binding	g.chr1:47078629A>G	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.365T>C	1.37:g.47078629A>G	ENSP00000315113:p.Met122Thr					MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Missense_Mutation_p.M122T	p.M174T	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN			1	578	-			122					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.521T>C	CCDS540.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709003	0.89018	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89078	0.3474	9	0.87932	D	0	-39.5315	14.355	0.66730	1.0:0.0:0.0:0.0	.	122	Q70IA8	MOB3C_HUMAN	T	122;174;145	.	ENSP00000271139:M174T	M	-	2	0	MOBKL2C	46851216	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.324000	0.96373	1.992000	0.58205	0.455000	0.32223	ATG		0.652	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		G	47078629	A	G	47078629	3	3	213	1	0	0	0	0	1	0	0	0	9686	217	8	4	297	4	MOBKL2C	1	47078629	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	7279404	47078629	202171992	5	14896											
C1orf177	163747	broad.mit.edu	37	chr1	55273665	55273665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctctggggaggttcGcttccgaggactcactgggg	5	9	16	11	2	3	0	2	0	1	0	5	3	4	2	1	6	1	4	1	6	0	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:55273665G>A	ENST00000371273.3	+	4	476	c.461G>A	c.(460-462)cGc>cAc	p.R154H	C1orf177_ENST00000358193.3_Missense_Mutation_p.R154H	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	154										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGGGAGGTTCGCTTCCGAGGA	0.552																																						uc001cyb.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(460-462)cGc>cAc		Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.							60	70	67					1																	55273665		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273665G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.461G>A	1.37:g.55273665G>A	ENSP00000360320:p.Arg154His					C1orf177_uc001cya.4_Missense_Mutation_p.R154H	p.R154H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			3	515	+			154					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.461G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414356	0.96092	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.25579	1.79;1.79	5.37	5.37	0.77165	.	0.192662	0.32015	N	0.006707	T	0.50480	0.1618	M	0.70275	2.135	0.41359	D	0.987411	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53173	-0.8476	10	0.87932	D	0	-14.8081	14.5957	0.68403	0.0:0.0:1.0:0.0	.	154;154	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	H	154	ENSP00000350924:R154H;ENSP00000360320:R154H	ENSP00000350924:R154H	R	+	2	0	C1orf177	55046253	0.998000	0.40836	0.809000	0.32408	0.938000	0.57974	4.827000	0.62723	2.531000	0.85337	0.561000	0.74099	CGC		0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		A	55273665	G	A	55273665	3	1	213	1	0	0	0	0	1	0	0	0	2017	1087	38	1	475	1	C1orf177	1	55273665	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	8195036	55273665	193976956	6	14897											
INADL	10207	broad.mit.edu	37	chr1	62253476	62253476	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagattggtggcacaaaCgtgcagggaatgaccagtga	13	8	14	6	1	0	4	0	3	0	1	0	5	0	5	1	3	2	2	1	3	3	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:62253476C>T	ENST00000371158.2	+	8	1014	c.900C>T	c.(898-900)aaC>aaT	p.N300N	INADL_ENST00000316485.6_Silent_p.N300N	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	300	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGGCACAAACGTGCAGGGAA	0.438																																						uc001dab.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(898-900)aaC>aaT		Homo sapiens InaD-like (Drosophila) (INADL), mRNA.							95	83	87					1																	62253476		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62253476C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.900C>T	1.37:g.62253476C>T						INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_5'UTR	p.N300N	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			7	1014	+			300			PDZ 2.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.900C>T	CCDS617.2																																																																																				0.438	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62253476	C	T	62253476	2	4	213	1	0	0	0	0	0	0	0	1	7731	535	19	1		1	INADL	1	62253476	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	6979811	62253476	186997145	7	14898											
TRIM45	80263	broad.mit.edu	37	chr1	117663350	117663350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacctatgagcctggcaGcagaagtggcagaggttggc	9	9	14	9	0	0	3	0	1	0	2	0	3	0	3	2	4	3	4	2	4	3	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:117663350G>A	ENST00000256649.4	-	1	1000	c.474C>T	c.(472-474)tgC>tgT	p.C158C	TRIM45_ENST00000369461.3_Silent_p.C101C|TRIM45_ENST00000369464.3_Silent_p.C158C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	158					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GAGCCTGGCAGCAGAAGTGGC	0.527																																						uc001egz.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(472-474)tgC>tgT		Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.							98	92	94					1																	117663350		2203	4300	6503	SO:0001819	synonymous_variant	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663350G>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.474C>T	1.37:g.117663350G>A						TRIM45_uc009whe.2_Silent_p.C158C	p.C158C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	0	1062	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	158					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	c.474C>T	CCDS893.1																																																																																				0.527	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		A	117663350	G	A	117663350	2	1	213	1	0	0	0	0	0	0	0	1	16517	963	34	3		3	TRIM45	1	117663350	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	55409874	117663350	131587271	8	14899											
TCHH	7062	broad.mit.edu	37	chr1	152083970	152083970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcagcagctgatcgcGcctctcctcctgctcgcgct	3	10	10	18	5	2	1	1	1	1	0	6	1	3	1	3	0	3	5	3	0	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:152083970G>A	ENST00000368804.1	-	2	1722	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	575	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGATCGCGCCTCTCCTCC	0.677																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1723-1725)Cgc>Tgc		Homo sapiens trichohyalin (TCHH), mRNA.							51	57	55					1																	152083970		2003	4166	6169	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083970G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1723C>T	1.37:g.152083970G>A	ENSP00000357794:p.Arg575Cys					TCHH_uc001ezp.2_Missense_Mutation_p.R575C	p.R575C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1995	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		575			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1723C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	9.026	0.986130	0.18889	.	.	ENSG00000159450	ENST00000368804	T	0.05382	3.45	2.83	-0.97	0.10306	.	.	.	.	.	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.50231	0.635	T	0.42258	-0.9462	9	0.62326	D	0.03	.	4.8871	0.13708	0.117:0.0:0.5281:0.3549	.	575	Q07283	TRHY_HUMAN	C	575	ENSP00000357794:R575C	ENSP00000357794:R575C	R	-	1	0	TCHH	150350594	0.001000	0.12720	0.001000	0.08648	0.266000	0.26442	0.919000	0.28692	-0.013000	0.14199	0.175000	0.17021	CGC		0.677	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		A	152083970	G	A	152083970	3	1	213	1	0	0	0	0	1	0	0	0	15697	1087	38	1	4112	1	TCHH	1	152083970	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	34420620	152083970	97166651	9	14900											
SPTA1	6708	broad.mit.edu	37	chr1	158606471	158606471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagctccccctctaggCgtttgtgcttcttcagcaag	6	11	8	16	1	3	0	1	0	2	0	4	0	4	0	4	1	3	4	4	1	2	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158606471C>T	ENST00000368147.4	-	37	5450	c.5270G>A	c.(5269-5271)cGc>cAc	p.R1757H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1757					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCTCTAGGCGTTTGTGCTT	0.473																																						uc001fst.1																			0		p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5269-5271)cGc>cAc		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							116	114	115					1																	158606471		1862	4097	5959	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606471C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5270G>A	1.37:g.158606471C>T	ENSP00000357129:p.Arg1757His						p.R1757H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5469	-	all_hematologic(112;0.0378)		1757					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5270G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343774	0.82022	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53206	0.63;0.63	5.26	4.36	0.52297	.	.	.	.	.	T	0.42314	0.1197	M	0.65320	2	0.48571	D	0.999671	P	0.49253	0.921	P	0.51866	0.682	T	0.37454	-0.9705	9	0.39692	T	0.17	.	11.0747	0.48025	0.0:0.9143:0.0:0.0857	.	1757	P02549	SPTA1_HUMAN	H	1757	ENSP00000357130:R1757H;ENSP00000357129:R1757H	ENSP00000357129:R1757H	R	-	2	0	SPTA1	156873095	1.000000	0.71417	0.491000	0.27477	0.953000	0.61014	5.136000	0.64783	1.467000	0.48044	0.650000	0.86243	CGC		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158606471	C	T	158606471	3	4	213	1	0	0	0	0	1	0	0	0	15115	768	27	1	2053	1	SPTA1	1	158606471	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	6522501	158606471	90644150	10	14901											
PYHIN1	149628	broad.mit.edu	37	chr1	158906881	158906881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttcccaggtgatgccGgtttgggcaaactaatagaa	14	9	11	7	1	0	2	0	1	0	1	1	2	1	2	2	3	2	3	2	3	6	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158906881G>A	ENST00000368140.1	+	2	426	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	PYHIN1_ENST00000368138.3_Missense_Mutation_p.G61S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G61S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G61S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G61S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	61	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGTGATGCCGGTTTGGGCAA	0.368																																						uc001ftb.3																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(181-183)Ggt>Agt		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							69	71	70					1																	158906881		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158906881G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.181G>A	1.37:g.158906881G>A	ENSP00000357122:p.Gly61Ser					PYHIN1_uc001fta.4_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.3_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.3_Missense_Mutation_p.G61S|PYHIN1_uc001fte.3_Missense_Mutation_p.G61S	p.G61S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			1	431	+	all_hematologic(112;0.0378)		61			DAPIN.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.181G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	8.728	0.915971	0.17907	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	2.83	0.636	0.17729	Pyrin (2);	.	.	.	.	T	0.38558	0.1045	M	0.62723	1.935	0.09310	N	1	D;D;D;D;D	0.89917	0.995;0.986;0.995;0.975;1.0	P;P;P;P;D	0.91635	0.837;0.761;0.761;0.771;0.999	T	0.12889	-1.0530	9	0.21014	T	0.42	.	2.9892	0.05978	0.1813:0.0:0.4061:0.4126	.	61;61;61;61;61	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	61	ENSP00000407616:G61S;ENSP00000357122:G61S;ENSP00000357120:G61S;ENSP00000376083:G61S;ENSP00000376082:G61S;ENSP00000357117:G61S	ENSP00000357117:G61S	G	+	1	0	PYHIN1	157173505	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	1.162000	0.31786	0.016000	0.14998	-0.253000	0.11424	GGT		0.368	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		A	158906881	G	A	158906881	3	1	213	1	0	0	0	0	1	0	0	0	12865	1116	39	2	183	2	PYHIN1	1	158906881	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	300410	158906881	90343740	11	14902											
IGFN1	91156	broad.mit.edu	37	chr1	201195009	201195009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcctgggacggtgaCggccgagtgggaaccctctc	7	6	16	12	4	1	1	0	1	1	0	2	5	1	3	3	4	3	0	3	4	2	0	rs145852390		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:201195009C>T	ENST00000335211.4	+	22	10674	c.10544C>T	c.(10543-10545)aCg>aTg	p.T3515M	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1058						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGACGGTGACGGCCGAGTGG	0.687																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10543-10545)aCg>aTg		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.		C	MET/THR	0,4406		0,0,2203	47	44	45		10544	4.3	0.8	1	dbSNP_134	45	1,8597	1.2+/-3.3	0,1,4298	no	missense	IGFN1	NM_001164586.1	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3515/3709	201195009	1,13003	2203	4299	6502	SO:0001583	missense	91156							g.chr1:201195009C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10544C>T	1.37:g.201195009C>T	ENSP00000334714:p.Thr3515Met					IGFN1_uc001gwb.3_Non-coding_Transcript	p.T3515M	NM_001164586	NP_001158058					21	10674	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10544C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211700	0.58452	0.0	1.16E-4	ENSG00000163395	ENST00000335211	T	0.59224	0.28	5.19	4.28	0.50868	.	0.057032	0.64402	D	0.000001	T	0.76069	0.3936	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79633	-0.1722	10	0.72032	D	0.01	.	12.131	0.53942	0.0:0.921:0.0:0.079	.	3515	F8WAI1	.	M	3515	ENSP00000334714:T3515M	ENSP00000334714:T3515M	T	+	2	0	IGFN1	199461632	1.000000	0.71417	0.773000	0.31616	0.249000	0.25844	4.433000	0.59929	1.436000	0.47453	0.561000	0.74099	ACG		0.687	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201195009	C	T	201195009	3	4	213	1	0	0	0	0	1	0	0	0	7590	536	19	1	10626	1	IGFN1	1	201195009	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	42288128	201195009	48055612	12	14903											
OR2T33	391195	broad.mit.edu	37	chr1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttatgtttacacacGtccccagccaccgtttcagg	7	13	9	12	2	1	0	1	0	0	0	2	0	2	0	4	2	2	3	4	2	2	5			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTTACACACGTCCCCAGCCA	0.423																																						uc010pzi.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(913-915)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.							158	158	158					1																	248436203		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436203G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.914C>T	1.37:g.248436203G>A	ENSP00000324687:p.Thr305Met						p.T305M	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	914	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		305					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.914C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.832	-0.744874	0.03065	.	.	ENSG00000177212	ENST00000318021	T	0.36878	1.23	1.31	0.0343	0.14183	.	1.312490	0.06382	N	0.715485	T	0.18087	0.0434	N	0.19112	0.55	0.09310	N	1	P	0.41710	0.76	B	0.28139	0.086	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.206	0.15291	0.0:0.0:0.311:0.689	.	305	Q8NG76	O2T33_HUMAN	M	305	ENSP00000324687:T305M	ENSP00000324687:T305M	T	-	2	0	OR2T33	246502826	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	-0.332000	0.07904	-0.000000	0.14550	0.175000	0.17021	ACG		0.423	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		A	248436203	G	A	248436203	3	1	213	1	0	0	0	0	1	0	0	0	11024	1145	40	1	51	1	OR2T33	1	248436203	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	47241194	248436203	814418	13	14904											
CCDC85A	114800	broad.mit.edu	37	chr2	56603032	56603032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcagtggacatgccacaCcttcccagcagcctgaacct	9	8	8	16	0	1	1	1	1	0	0	2	2	2	2	5	1	4	2	5	1	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:56603032C>T	ENST00000407595.2	+	5	2036	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	512								p.P512A(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCCACACCTTCCCAGCA	0.473																																						uc002rzn.3																			1	Substitution - Missense(1)	p.P512A(2)	lung(1)	breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1534-1536)Cct>Tct		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							92	92	92					2																	56603032		2026	4185	6211	SO:0001583	missense	114800							g.chr2:56603032C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1534C>T	2.37:g.56603032C>T	ENSP00000384040:p.Pro512Ser					CCDC85A_uc021vhw.1_Intron	p.P512S	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	2036	+			512						Missense_Mutation	SNP	ENST00000407595.2	37	c.1534C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897141	0.33535	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.15	5.15	0.70609	.	0.218069	0.30419	N	0.009670	T	0.26484	0.0647	N	0.08118	0	0.34418	D	0.697152	P	0.39809	0.689	B	0.36378	0.223	T	0.35500	-0.9786	9	0.22706	T	0.39	-19.4023	13.7803	0.63079	0.0:0.8343:0.1657:0.0	.	512	Q96PX6	CC85A_HUMAN	S	512;101	.	ENSP00000384040:P512S	P	+	1	0	CCDC85A	56456536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.366000	0.44204	2.673000	0.90976	0.467000	0.42956	CCT		0.473	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			T	56603032	C	T	56603032	3	4	213	1	0	0	0	0	1	0	0	0	2859	507	18	3	1552	3	CCDC85A	2	56603032	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		56603032	186596341	14	14905											
POLR1B	84172	broad.mit.edu	37	chr2	113315616	113315616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatagaccttacaaaaccaTttgaatacctttttgctact	13	14	4	10	0	0	2	0	1	0	1	0	2	0	2	3	0	5	2	3	0	7	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:113315616T>C	ENST00000263331.5	+	8	1868	c.1288T>C	c.(1288-1290)Ttt>Ctt	p.F430L	POLR1B_ENST00000537335.1_Missense_Mutation_p.F219L|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.F468L|POLR1B_ENST00000417433.2_Missense_Mutation_p.F374L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	430					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TACAAAACCATTTGAATACCT	0.328																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1288-1290)Ttt>Ctt		Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.							87	90	89					2																	113315616		2202	4300	6502	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113315616T>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1288T>C	2.37:g.113315616T>C	ENSP00000263331:p.Phe430Leu					POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	p.F430L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			7	1868	+			430					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1288T>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	9.841	1.191138	0.21954	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	6.04	6.04	0.98038	.	0.043858	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16567	0.415	0.58432	D	0.999996	B;B;B	0.12013	0.004;0.002;0.005	B;B;B	0.15052	0.007;0.002;0.012	T	0.51450	-0.8704	10	0.02654	T	1	-27.8834	15.5589	0.76223	0.0:0.0:0.0:1.0	.	468;374;430	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	L	430;468;219;374	ENSP00000263331:F430L;ENSP00000444136:F468L;ENSP00000437914:F219L;ENSP00000405358:F374L	ENSP00000263331:F430L	F	+	1	0	POLR1B	113032087	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.335000	0.79234	2.317000	0.78254	0.459000	0.35465	TTT		0.328	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		C	113315616	T	C	113315616	3	2	213	1	0	0	0	0	1	0	0	0	12210	1493	52	4	1318	4	POLR1B	2	113315616	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08	56712584	113315616	129883757	15	14906											
TTN	7273	broad.mit.edu	37	chr2	179410767	179410767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcctccgtcttcctgCggaaggctccaggctaaagt	6	11	10	14	2	2	0	0	0	2	0	6	1	6	1	4	3	2	3	4	3	3	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:179410767C>T	ENST00000591111.1	-	293	90497	c.90273G>A	c.(90271-90273)ccG>ccA	p.P30091P	TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P29164P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.P22667P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.P22859P|TTN_ENST00000589042.1_Silent_p.P31732P|TTN_ENST00000359218.5_Silent_p.P22792P			Q8WZ42	TITIN_HUMAN	titin	30091	Fibronectin type-III 119. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCTTCCTGCGGAAGGCTCC	0.527																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87490-87492)ccG>ccA		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							75	73	73					2																	179410767		2006	4170	6176	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410767C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90273G>A	2.37:g.179410767C>T						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P22859P|TTN_uc021vta.1_Silent_p.P22792P|TTN_uc021vtb.1_Silent_p.P22667P	p.P29164P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	87717	-			30091			Fibronectin type-III 112.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.87492G>A																																																																																					0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179410767	C	T	179410767	2	4	213	1	0	0	0	0	0	0	0	1	16732	755	27	1		1	TTN	2	179410767	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	66095151	179410767	63788606	16	14907											
CRYGC	1420	broad.mit.edu	37	chr2	208993026	208993026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggcctcagcaggtattgCcgcccccggtagttgggcag	5	8	16	12	2	1	0	1	0	0	0	1	0	1	0	4	5	2	5	4	5	2	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:208993026C>T	ENST00000282141.3	-	3	463	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622																																						uc002vco.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(424-426)cgG>cgA		Homo sapiens crystallin, gamma C (CRYGC), mRNA.							55	58	57					2																	208993026		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993026C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.426G>A	2.37:g.208993026C>T						LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	p.R142R	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	464	-			142			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.426G>A	CCDS2379.1																																																																																				0.622	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		T	208993026	C	T	208993026	2	4	213	1	0	0	0	0	0	0	0	1	3916	726	26	3		3	CRYGC	2	208993026	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	29582259	208993026	34206347	17	14908											
PNKD	25953	broad.mit.edu	37	chr2	219206751	219206751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggacggcttcagatccGggccctggctacacctggcc	5	7	14	15	3	1	1	1	0	0	1	2	2	2	2	4	5	1	2	4	5	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:219206751G>A	ENST00000273077.4	+	7	716	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	PNKD_ENST00000258362.3_Missense_Mutation_p.R198Q|PNKD_ENST00000436005.2_Missense_Mutation_p.R162Q|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	222					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAGATCCGGGCCCTGGCT	0.597																																						uc002vhn.3																			0		p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(664-666)cGg>cAg		Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							121	103	109					2																	219206751		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219206751G>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.665G>A	2.37:g.219206751G>A	ENSP00000273077:p.Arg222Gln					PNKD_uc002vhq.3_Missense_Mutation_p.R198Q	p.R222Q	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	809	+		Renal(207;0.0474)	222					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.665G>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759545	0.49468	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.95756	-3.8;-3.8;-3.8	4.76	0.6	0.17524	Beta-lactamase-like (2);	0.729004	0.13646	N	0.372675	D	0.87358	0.6157	N	0.11892	0.195	0.27500	N	0.952022	B;B	0.18968	0.026;0.032	B;B	0.12156	0.002;0.007	T	0.77827	-0.2443	10	0.33141	T	0.24	-5.1194	6.8194	0.23849	0.6202:0.0:0.3798:0.0	.	198;222	Q8N490-3;Q8N490	.;PNKD_HUMAN	Q	222;198;162	ENSP00000273077:R222Q;ENSP00000258362:R198Q;ENSP00000414400:R162Q	ENSP00000258362:R198Q	R	+	2	0	PNKD	218914995	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	0.706000	0.25690	0.220000	0.20860	0.556000	0.70494	CGG		0.597	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			A	219206751	G	A	219206751	3	1	213	1	0	0	0	0	1	0	0	0	12146	1116	39	2	1056	2	PNKD	2	219206751	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	10213725	219206751	23992622	18	14909											
SGOL1	151648	broad.mit.edu	37	chr3	20225255	20225255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctaaaactaacatttTgttgttgtcttggtaatttt	12	18	6	5	0	1	0	0	0	1	0	1	0	1	0	0	1	3	4	0	1	5	10			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:20225255T>C	ENST00000263753.4	-	3	323	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	SGOL1_ENST00000429446.3_Missense_Mutation_p.K62E|SGOL1_ENST00000419233.2_Missense_Mutation_p.K62E|SGOL1_ENST00000442720.1_Missense_Mutation_p.K62E|SGOL1_ENST00000421451.1_Missense_Mutation_p.K62E|SGOL1_ENST00000443724.1_Missense_Mutation_p.K62E|SGOL1_ENST00000425061.1_Missense_Mutation_p.K62E|SGOL1_ENST00000412868.1_Missense_Mutation_p.K62E|SGOL1_ENST00000437051.1_Missense_Mutation_p.K62E|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Missense_Mutation_p.K62E|SGOL1_ENST00000417364.1_Missense_Mutation_p.K62E|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Missense_Mutation_p.K62E|SGOL1_ENST00000306698.2_Missense_Mutation_p.K62E|SGOL1_ENST00000412997.1_Missense_Mutation_p.K62E	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	62	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTAACATTTTGTTGTTGTCT	0.294																																						uc003cbu.3																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(184-186)Aaa>Gaa		Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.							106	102	103					3																	20225255		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225255T>C	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.184A>G	3.37:g.20225255T>C	ENSP00000263753:p.Lys62Glu					SGOL1_uc003cbw.3_Missense_Mutation_p.K62E|SGOL1_uc003cbv.3_Missense_Mutation_p.K62E|SGOL1_uc003cbt.3_Missense_Mutation_p.K62E|SGOL1_uc010hfa.3_Missense_Mutation_p.K62E|SGOL1_uc003cbs.3_Missense_Mutation_p.K62E|SGOL1_uc003cbr.3_Missense_Mutation_p.K62E|SGOL1_uc003ccc.3_Missense_Mutation_p.K62E|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Missense_Mutation_p.K62E|SGOL1_uc003cca.3_Missense_Mutation_p.K62E|SGOL1_uc003cby.3_Missense_Mutation_p.K62E|SGOL1_uc003cbx.3_Missense_Mutation_p.K62E|SGOL1_uc003cbz.3_Missense_Mutation_p.K62E	p.K62E	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN			2	339	-			62			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.184A>G	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943381	0.53079	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;3.03;0.6;0.53;0.6;3.03;1.13;0.54;1.13;0.54	5.13	5.13	0.70059	Shugoshin, N-terminal (1);	0.411838	0.30201	N	0.010163	T	0.49321	0.1550	N	0.19112	0.55	0.31397	N	0.67715	B;P;B;D;B;P;B	0.62365	0.372;0.801;0.152;0.991;0.372;0.801;0.241	B;B;B;P;B;B;B	0.54026	0.121;0.192;0.085;0.74;0.085;0.192;0.085	T	0.58929	-0.7549	10	0.72032	D	0.01	.	11.854	0.52427	0.0:0.0:0.146:0.854	.	62;62;62;62;62;62;62	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	E	62	ENSP00000394625:K62E;ENSP00000263753:K62E;ENSP00000373284:K62E;ENSP00000414960:K62E;ENSP00000413070:K62E;ENSP00000414129:K62E;ENSP00000410458:K62E;ENSP00000389034:K62E;ENSP00000406880:K62E;ENSP00000394613:K62E	ENSP00000263753:K62E	K	-	1	0	SGOL1	20200259	0.997000	0.39634	0.999000	0.59377	0.990000	0.78478	1.950000	0.40323	2.054000	0.61138	0.533000	0.62120	AAA		0.294	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		C	20225255	T	C	20225255	3	2	213	1	0	0	0	0	1	0	0	0	14216	1821	63	4	1549	4	SGOL1	3	20225255	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08		20225255	177797175	19	14910											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655078	50655078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacccggcttgggcggtgctCcgggggggcggcgggagccc	2	4	22	13	5	0	0	0	0	0	0	1	2	1	1	3	8	2	2	3	8	0	1	rs375412266		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:50655078C>T	ENST00000446044.1	+	4	678	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.P28S	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	28			P -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGGCGGTGCTCCGGGGGGGCG	0.697																																						uc003day.2																			0		p.P28S(1)		central_nervous_system(1)|ovary(1)	2						c.(82-84)Ccg>Tcg		Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.							37	49	45					3																	50655078		2202	4300	6502	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50655078C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.82C>T	3.37:g.50655078C>T	ENSP00000396467:p.Pro28Ser					MAPKAPK3_uc003daz.2_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.2_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.P28S	p.P28S	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	3	724	+			28		P -> S (in a glioblastoma multiforme sample; somatic mutation).			B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.82C>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542754	0.45280	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955;ENST00000457064	T;T;T;T	0.66099	-0.19;-0.18;-0.19;1.03	5.15	1.71	0.24356	Protein kinase-like domain (1);	0.281073	0.34555	N	0.003862	T	0.30885	0.0779	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.14578	0.011	T	0.27365	-1.0076	10	0.02654	T	1	-5.3699	7.0732	0.25189	0.4172:0.4279:0.1549:0.0	.	28	Q16644	MAPK3_HUMAN	S	28	ENSP00000396467:P28S;ENSP00000410970:P28S;ENSP00000350639:P28S;ENSP00000402045:P28S	ENSP00000350639:P28S	P	+	1	0	MAPKAPK3	50630082	0.002000	0.14202	0.001000	0.08648	0.112000	0.19704	0.741000	0.26202	0.622000	0.30249	0.561000	0.74099	CCG		0.697	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		T	50655078	C	T	50655078	3	4	213	1	0	0	0	0	1	0	0	0	9290	855	30	3	84	3	MAPKAPK3	3	50655078	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	30429823	50655078	147367352	20	14911											
CASR	846	broad.mit.edu	37	chr3	122003457	122003457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctttcaaggtggctgccCgggccacgctgcgccgcagc	5	6	14	16	5	1	0	1	0	0	0	1	0	1	0	3	3	3	4	3	3	1	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:122003457C>T	ENST00000490131.1	+	7	3028	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	CASR_ENST00000498619.1_Missense_Mutation_p.R896W|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R886W	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	886	Interaction with RNF19A.		R -> W (in HHC1). {ECO:0000269|PubMed:17698911}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGTGGCTGCCCGGGCCACGCT	0.612																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84	GRCh37	CM076072	CASR	M		c.(2686-2688)Cgg>Tgg		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						32	33	33					3																	122003457		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003457C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2656C>T	3.37:g.122003457C>T	ENSP00000418685:p.Arg886Trp					CASR_uc003eev.4_Missense_Mutation_p.R886W	p.R896W	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	3124	+			886			Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2686C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89746	-2.56;-2.56;-2.56	5.89	5.0	0.66597	.	0.053112	0.64402	D	0.000001	D	0.89332	0.6685	L	0.27053	0.805	0.47065	D	0.999302	D;D	0.89917	1.0;1.0	D;P	0.63283	0.913;0.857	D	0.90442	0.4432	10	0.87932	D	0	.	12.7126	0.57098	0.4154:0.5846:0.0:0.0	.	896;886	E7ENE0;P41180	.;CASR_HUMAN	W	886;896;886	ENSP00000418685:R886W;ENSP00000420194:R896W;ENSP00000296154:R886W	ENSP00000296154:R886W	R	+	1	2	CASR	123486147	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.186000	0.58337	1.456000	0.47831	0.561000	0.74099	CGG		0.612	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122003457	C	T	122003457	3	4	213	1	0	0	0	0	1	0	0	0	2682	643	23	2	2708	2	CASR	3	122003457	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	71348379	122003457	76018973	21	14912											
GHSR	2693	broad.mit.edu	37	chr3	172165482	172165482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgccgcgcctcctcCgccacagcttcctgccgatg	5	7	9	20	5	0	0	0	0	0	0	4	1	3	0	7	0	3	2	7	0	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:172165482C>T	ENST00000241256.2	-	1	764	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	GHSR_ENST00000427970.1_Missense_Mutation_p.R241Q	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	241					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGCCTCCTCCGCCACAGCTT	0.602																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(721-723)cGg>cAg		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							56	51	52					3																	172165482		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165482C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.722G>A	3.37:g.172165482C>T	ENSP00000241256:p.Arg241Gln					GHSR_uc011bpv.2_Missense_Mutation_p.R241Q	p.R241Q	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	765	-	Ovarian(172;0.00143)|Breast(254;0.197)		241					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.722G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840840	0.51057	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.41400	1.0;1.0	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.174525	0.48286	D	0.000181	T	0.40347	0.1113	L	0.53617	1.68	0.37268	D	0.907263	P;P	0.43412	0.8;0.806	B;B	0.35859	0.212;0.148	T	0.48854	-0.8998	10	0.40728	T	0.16	-19.4572	19.4276	0.94749	0.0:1.0:0.0:0.0	.	241;241	Q92847-2;Q92847	.;GHSR_HUMAN	Q	241	ENSP00000241256:R241Q;ENSP00000395344:R241Q	ENSP00000241256:R241Q	R	-	2	0	GHSR	173648176	0.997000	0.39634	0.980000	0.43619	0.975000	0.68041	1.598000	0.36740	2.601000	0.87937	0.455000	0.32223	CGG		0.602	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165482	C	T	172165482	3	4	213	1	0	0	0	0	1	0	0	0	6375	652	23	2	460	2	GHSR	3	172165482	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	50162025	172165482	25856948	22	14913											
WDFY3	23001	broad.mit.edu	37	chr4	85634313	85634313	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggaacaaaccacctaccCctgctccacactcgtgtttg	11	8	6	16	1	0	0	0	0	0	0	2	1	1	1	5	1	4	2	5	1	4	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr4:85634313C>T	ENST00000295888.4	-	51	8448	c.8041G>A	c.(8041-8043)Gga>Aga	p.G2681R	WDFY3_ENST00000322366.6_Splice_Site_p.G2664R	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2681	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCACCTACCCCTGCTCCACA	0.398																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e51+1		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							217	202	207					4																	85634313		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85634313C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8042+1G>A	4.37:g.85634313C>T						WDFY3_uc003hpe.1_Splice_Site_p.G292_splice	p.G2681_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	51	8450	-		Hepatocellular(203;0.114)	2681					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8042_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059660	0.93846	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.67523	-0.27;-0.27;-0.17	5.28	5.28	0.74379	BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	P	0.56434	0.798	T	0.64939	-0.6289	10	0.22706	T	0.39	.	19.2864	0.94072	0.0:1.0:0.0:0.0	.	2681	Q8IZQ1	WDFY3_HUMAN	R	2664;2681;284	ENSP00000318466:G2664R;ENSP00000295888:G2681R;ENSP00000424987:G284R	ENSP00000295888:G2681R	G	-	1	0	WDFY3	85853337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.265000	0.78442	2.641000	0.89580	0.563000	0.77884	GGA		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Missense_Mutation	T	85634313	C	T	85634313	5	4	213	1	0	0	0	0	0	0	1	0	17267	637	22	3	2611	3	WDFY3	4	85634313	Splice_Site	SNP	C	TCGA-28-5213-01A-01D-1486-08		85634313	105519963	23	14914											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834365	101834365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttttcggaaaccgcCgaaccttatcaaggcctctg	8	13	7	13	3	2	0	1	0	1	0	4	2	3	1	5	2	2	0	5	2	4	4	rs144293843		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr5:101834365C>T	ENST00000506729.1	-	1	355	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G62S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G62S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G62S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G62S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGAAACCGCCGAACCTTATC	0.537																																						uc003knn.3																			0		p.G62A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(184-186)Ggc>Agc		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							151	166	161					5																	101834365		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834365C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.184G>A	5.37:g.101834365C>T	ENSP00000421339:p.Gly62Ser					SLCO6A1_uc003kno.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.3_Missense_Mutation_p.G62S	p.G62S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	0	356	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	62					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.184G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463618	0.26248	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.43294	1.01;1.01;1.02;0.95;0.95	3.38	-3.59	0.04583	.	7.138780	0.00166	N	0.000007	T	0.26810	0.0656	L	0.27053	0.805	0.09310	N	1	D;D;P	0.56968	0.978;0.962;0.926	B;B;B	0.43103	0.408;0.231;0.139	T	0.29549	-1.0008	10	0.09084	T	0.74	.	6.1497	0.20304	0.0:0.1962:0.5205:0.2834	.	62;62;62	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	62	ENSP00000421339:G62S;ENSP00000369135:G62S;ENSP00000373671:G62S;ENSP00000421990:G62S;ENSP00000369138:G62S	ENSP00000369135:G62S	G	-	1	0	SLCO6A1	101862264	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.192000	0.01245	-0.800000	0.04433	0.484000	0.47621	GGC		0.537	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		T	101834365	C	T	101834365	3	4	213	1	0	0	0	0	1	0	0	0	14732	652	23	2	2027	2	SLCO6A1	5	101834365	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		101834365	79080895	24	14915											
TFAP2B	7021	broad.mit.edu	37	chr6	50791291	50791291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaccaccagagccaggacCcctactcccacgtcaacgac	11	4	6	20	2	1	1	1	0	0	1	2	3	2	2	7	1	4	0	7	1	3	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:50791291C>T	ENST00000393655.3	+	2	422	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.P94S	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	85	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGCCAGGACCCCTACTCCCA	0.682																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(253-255)Ccc>Tcc		Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.							64	70	68					6																	50791291		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791291C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.253C>T	6.37:g.50791291C>T	ENSP00000377265:p.Pro85Ser						p.P85S	NM_003221	NP_003212	Q92481	AP2B_HUMAN			1	419	+	Lung NSC(77;0.156)		85			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.253C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841831	0.91197	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.81330	-1.48;-1.48;-1.48	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.74881	2.28	0.80722	D	1	P	0.41673	0.759	B	0.37267	0.245	T	0.80828	-0.1208	10	0.56958	D	0.05	-9.2694	19.0884	0.93215	0.0:1.0:0.0:0.0	.	85	Q92481	AP2B_HUMAN	S	85;83;94	ENSP00000377265:P85S;ENSP00000342252:P83S;ENSP00000263046:P94S	ENSP00000263046:P94S	P	+	1	0	TFAP2B	50899250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.525000	0.85131	0.563000	0.77884	CCC		0.682	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		T	50791291	C	T	50791291	3	4	213	1	0	0	0	0	1	0	0	0	15785	623	22	3	259	3	TFAP2B	6	50791291	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		50791291	120323776	25	14916											
GJA10	84694	broad.mit.edu	37	chr6	90605129	90605129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggcaacttgaagtagaCccttccaatgggaaaaagga	16	6	10	9	0	0	2	0	1	0	1	1	4	1	4	3	3	1	2	3	3	7	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:90605129C>A	ENST00000369352.1	+	1	942	c.942C>A	c.(940-942)gaC>gaA	p.D314E	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTGAAGTAGACCCTTCCAATG	0.498																																						uc011eaa.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(940-942)gaC>gaA		Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.							72	69	70					6																	90605129		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605129C>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.942C>A	6.37:g.90605129C>A	ENSP00000358358:p.Asp314Glu						p.D314E	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	0	942	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	314					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.942C>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609187	0.28623	.	.	ENSG00000135355	ENST00000369352	D	0.97831	-4.56	5.08	1.69	0.24217	.	0.239869	0.26359	N	0.024821	D	0.89795	0.6818	M	0.61703	1.905	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	T	0.80881	-0.1184	10	0.24483	T	0.36	.	1.3698	0.02208	0.168:0.4195:0.1489:0.2635	.	314	Q969M2	CXA10_HUMAN	E	314	ENSP00000358358:D314E	ENSP00000358358:D314E	D	+	3	2	GJA10	90661850	0.000000	0.05858	0.067000	0.19924	0.706000	0.40770	-0.103000	0.10940	0.560000	0.29169	0.563000	0.77884	GAC		0.498	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		A	90605129	C	A	90605129	3	1	213	1	0	0	0	0	1	0	0	0	6401	506	18	5	944	5	GJA10	6	90605129	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	39813838	90605129	80509938	26	14917											
C7orf11	136647	broad.mit.edu	37	chr7	40172717	40172717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattgctgtattgttggcTtatatccactacagatactg	10	16	8	7	0	0	1	0	0	0	1	1	1	1	1	1	1	3	5	1	1	6	9			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:40172717T>C	ENST00000306984.6	-	2	572	c.481A>G	c.(481-483)Agc>Ggc	p.S161G	C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000401647.2_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	161					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											TATTGTTGGCTTATATCCACT	0.363																																						uc003thl.4																			0											c.(481-483)Agc>Ggc		Homo sapiens chromosome 7 open reading frame 11 (C7orf11), mRNA.							161	149	153					7																	40172717		2203	4300	6503	SO:0001583	missense	136647				cell division|mitosis	microtubule organizing center|nucleus		g.chr7:40172717T>C	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"chromosome 7 open reading frame 11"	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.481A>G	7.37:g.40172717T>C	ENSP00000304553:p.Ser161Gly					C7orf10_uc022acd.1_5'Flank|C7orf10_uc003thn.2_5'Flank|C7orf10_uc003tho.2_5'Flank	p.S161G	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN			1	566	-			161						Missense_Mutation	SNP	ENST00000306984.6	37	c.481A>G	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.349281	0.41599	.	.	ENSG00000168303	ENST00000306984	T	0.75477	-0.94	5.55	5.55	0.83447	.	0.255500	0.38111	N	0.001813	T	0.61426	0.2346	N	0.22421	0.69	0.30791	N	0.74096	B	0.13594	0.008	B	0.18561	0.022	T	0.63157	-0.6700	10	0.59425	D	0.04	-17.6805	10.9628	0.47395	0.0:0.072:0.0:0.928	.	161	Q8TAP9	TTDN1_HUMAN	G	161	ENSP00000304553:S161G	ENSP00000304553:S161G	S	-	1	0	C7orf11	40139242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.367000	0.59498	2.333000	0.79357	0.482000	0.46254	AGC		0.363	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701		C	40172717	T	C	40172717	3	2	213	1	0	0	0	0	1	0	0	0	2377	1609	56	4	62	4	C7orf11	7	40172717	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08		40172717	118965946	27	14918											
ADCY1	107	broad.mit.edu	37	chr7	45717835	45717835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcctggctgccttatttgGccttgtctaccttctaatat	6	17	6	12	0	2	0	0	0	2	0	3	0	3	0	4	2	2	1	4	2	4	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:45717835G>A	ENST00000297323.7	+	10	1893	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	624					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCTTATTTGGCCTTGTCTAC	0.493																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1870-1872)gGc>gAc		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						214	201	205					7																	45717835		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717835G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1871G>A	7.37:g.45717835G>A	ENSP00000297323:p.Gly624Asp						p.G624D	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			9	1889	+			624					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1871G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834698	0.91036	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.43688	0.94	5.02	5.02	0.67125	.	0.053701	0.85682	D	0.000000	T	0.40570	0.1122	M	0.71581	2.175	0.80722	D	1	P	0.35807	0.522	B	0.25140	0.058	T	0.40346	-0.9568	10	0.36615	T	0.2	.	16.1939	0.82011	0.0:0.0:1.0:0.0	.	624	Q08828	ADCY1_HUMAN	D	624	ENSP00000297323:G624D	ENSP00000297323:G624D	G	+	2	0	ADCY1	45684360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.245000	0.78237	2.482000	0.83794	0.655000	0.94253	GGC		0.493	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45717835	G	A	45717835	3	1	213	1	0	0	0	0	1	0	0	0	292	1203	42	3	1909	3	ADCY1	7	45717835	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	5545118	45717835	113420828	28	14919											
SUN3	256979	broad.mit.edu	37	chr7	48056901	48056901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatattctgcaattatggcAtataattgtctggatttctg	10	17	7	7	0	3	0	0	0	3	0	3	1	3	1	1	2	1	2	1	2	5	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:48056901A>G	ENST00000297325.4	-	3	405	c.246T>C	c.(244-246)taT>taC	p.Y82Y	SUN3_ENST00000453192.2_Silent_p.Y70Y|SUN3_ENST00000395572.2_Silent_p.Y82Y|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	82						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAATTATGGCATATAATTGTC	0.299																																						uc003tof.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(244-246)taT>taC		Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.							61	61	61					7																	48056901		2200	4291	6491	SO:0001819	synonymous_variant	256979					integral to membrane		g.chr7:48056901A>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"Sad1 and UNC84 domain containing 1"	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.246T>C	7.37:g.48056901A>G						SUN3_uc003tog.3_Silent_p.Y82Y|SUN3_uc011kcf.2_Silent_p.Y70Y	p.Y82Y	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			3	343	-			82					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.246T>C	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.462262	0.01062	.	.	ENSG00000164744	ENST00000453071	.	.	.	4.73	1.03	0.20045	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25433	-1.0132	4	.	.	.	-19.5607	6.0791	0.19931	0.6299:0.0:0.3701:0.0	.	.	.	.	T	2	.	.	M	-	2	0	SUN3	48023426	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.112000	0.15479	0.022000	0.15160	0.460000	0.39030	ATG		0.299	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		G	48056901	A	G	48056901	2	3	213	1	0	0	0	0	0	0	0	1	15390	224	8	4		4	SUN3	7	48056901	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	2339066	48056901	111081762	29	14920											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	213	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	7176142	55233043	103905620	30	14921											
TRPM3	80036	broad.mit.edu	37	chr9	73213424	73213424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagtaaatgatgttcaCgcagtagatgaccctcccgt	12	10	8	11	2	1	3	1	2	0	1	2	3	2	3	3	0	1	4	3	0	4	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:73213424C>T	ENST00000377111.2	-	20	3166	c.2923G>A	c.(2923-2925)Gtg>Atg	p.V975M	TRPM3_ENST00000358082.3_Missense_Mutation_p.V837M|TRPM3_ENST00000377106.1_Missense_Mutation_p.V847M|TRPM3_ENST00000377110.3_Missense_Mutation_p.V975M|TRPM3_ENST00000408909.2_Missense_Mutation_p.V834M|TRPM3_ENST00000357533.2_Missense_Mutation_p.V979M|TRPM3_ENST00000396285.1_Missense_Mutation_p.V822M|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1002M|TRPM3_ENST00000360823.2_Missense_Mutation_p.V837M|TRPM3_ENST00000396280.5_Missense_Mutation_p.V824M|TRPM3_ENST00000377105.1_Missense_Mutation_p.V834M|TRPM3_ENST00000396292.4_Missense_Mutation_p.V847M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1000					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGATGTTCACGCAGTAGATG	0.483																																						uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2923-2925)Gtg>Atg		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							137	126	130					9																	73213424		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73213424C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2923G>A	9.37:g.73213424C>T	ENSP00000366315:p.Val975Met					TRPM3_uc004ahu.3_Missense_Mutation_p.V805M|TRPM3_uc004ahv.3_Missense_Mutation_p.V777M|TRPM3_uc004ahw.3_Missense_Mutation_p.V847M|TRPM3_uc004ahx.3_Missense_Mutation_p.V834M|TRPM3_uc004ahy.3_Missense_Mutation_p.V837M|TRPM3_uc004ahz.3_Missense_Mutation_p.V824M|TRPM3_uc004aia.3_Missense_Mutation_p.V822M|TRPM3_uc004aib.3_Missense_Mutation_p.V812M|TRPM3_uc004aic.3_Missense_Mutation_p.V975M	p.V975M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			19	3167	-			1000					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2923G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.467440|3.467440	0.63625|0.63625	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|D;D;D;D;D;D;D;D;D;D;D	.|0.98617	.|-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.87|4.87	3.97|3.97	0.46021|0.46021	.|.	.|0.072578	.|0.53938	.|D	.|0.000041	D|D	0.98741|0.98741	0.9577|0.9577	M|M	0.66378|0.66378	2.025|2.025	0.39287|0.39287	D|D	0.964678|0.964678	.|D;P;D;D;P;P;D;P	.|0.89917	.|0.996;0.921;1.0;0.999;0.5;0.861;0.999;0.481	.|D;P;D;D;P;P;D;P	.|0.81914	.|0.951;0.496;0.995;0.971;0.482;0.618;0.951;0.482	D|D	0.99886|0.99886	1.1123|1.1123	5|10	.|0.52906	.|T	.|0.07	-20.2036|-20.2036	13.3904|13.3904	0.60821|0.60821	0.0:0.923:0.0:0.077|0.0:0.923:0.0:0.077	.|.	.|975;975;965;979;837;834;947;822	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	H|M	823|975;975;847;837;834;979;834;822;847;837;1002	.|ENSP00000366315:V975M;ENSP00000366314:V975M;ENSP00000366310:V847M;ENSP00000354066:V837M;ENSP00000366309:V834M;ENSP00000350140:V979M;ENSP00000386127:V834M;ENSP00000379581:V822M;ENSP00000379587:V847M;ENSP00000350791:V837M;ENSP00000389542:V1002M	.|ENSP00000350140:V979M	R|V	-|-	2|1	0|0	TRPM3|TRPM3	72403244|72403244	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	3.930000|3.930000	0.56522|0.56522	1.178000|1.178000	0.42870|0.42870	0.573000|0.573000	0.79308|0.79308	CGT|GTG		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73213424	C	T	73213424	3	4	213	1	0	0	0	0	1	0	0	0	16584	536	19	1	2224	1	TRPM3	9	73213424	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		73213424	68000007	31	14922											
ERP44	23071	broad.mit.edu	37	chr9	102784454	102784454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatcatcccattaCgaaacaatttgagggttggg	11	13	8	9	1	4	1	3	1	1	0	5	2	5	1	1	2	2	1	1	2	3	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:102784454C>T	ENST00000262455.6	-	5	540	c.341G>A	c.(340-342)cGt>cAt	p.R114H		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	114	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CATCCCATTACGAAACAATTT	0.393																																						uc004bam.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						c.(340-342)cGt>cAt		Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.							150	140	144					9																	102784454		2203	4300	6503	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102784454C>T	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.341G>A	9.37:g.102784454C>T	ENSP00000262455:p.Arg114His					ERP44_uc010msy.3_Non-coding_Transcript	p.R114H	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN			4	549	-			114			Thioredoxin.		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.341G>A	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131960	0.77662	.	.	ENSG00000023318	ENST00000262455	T	0.42131	0.98	5.81	4.91	0.64330	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.49513	1.565	0.80722	D	1	B	0.34181	0.44	B	0.36418	0.224	T	0.44081	-0.9351	10	0.72032	D	0.01	-2.8096	15.3023	0.73962	0.0:0.9319:0.0:0.0681	.	114	Q9BS26	ERP44_HUMAN	H	114	ENSP00000262455:R114H	ENSP00000262455:R114H	R	-	2	0	ERP44	101824275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.406000	0.80017	2.752000	0.94435	0.557000	0.71058	CGT		0.393	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		T	102784454	C	T	102784454	3	4	213	1	0	0	0	0	1	0	0	0	5243	536	19	1	911	1	ERP44	9	102784454	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	29571030	102784454	38428977	32	14923											
NEBL	10529	broad.mit.edu	37	chr10	21120216	21120216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctttaatttcattttctAagtccttcttgtattgtttc	6	23	3	9	0	3	0	1	0	2	0	6	0	5	0	2	0	0	2	2	0	3	11			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:21120216A>G	ENST00000377122.4	-	16	1976	c.1580T>C	c.(1579-1581)tTa>tCa	p.L527S	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	527					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATTTTCTAAGTCCTTCTT	0.353																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1579-1581)tTa>tCa		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							139	125	130					10																	21120216		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120216A>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1580T>C	10.37:g.21120216A>G	ENSP00000366326:p.Leu527Ser					NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.L527S	NM_006393	NP_006384	O76041	NEBL_HUMAN			15	1977	-			527					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1580T>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017015	0.75161	.	.	ENSG00000078114	ENST00000377122	T	0.50548	0.74	5.78	5.78	0.91487	.	0.272209	0.31051	N	0.008344	T	0.61974	0.2390	M	0.84846	2.72	0.80722	D	1	P	0.41978	0.767	P	0.48304	0.573	T	0.61978	-0.6951	10	0.23891	T	0.37	.	16.0666	0.80887	1.0:0.0:0.0:0.0	.	527	O76041	NEBL_HUMAN	S	527	ENSP00000366326:L527S	ENSP00000366326:L527S	L	-	2	0	NEBL	21160222	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.630000	0.67805	2.333000	0.79357	0.482000	0.46254	TTA		0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		G	21120216	A	G	21120216	3	3	213	1	0	0	0	0	1	0	0	0	10303	372	13	4	1516	4	NEBL	10	21120216	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		21120216	114414531	33	14924											
ADAM12	8038	broad.mit.edu	37	chr10	127755335	127755335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacacagcgtccggcttcAgggtacaggtggtggcattg	7	8	15	11	3	1	0	1	0	0	0	2	0	2	0	1	5	2	4	1	5	1	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:127755335A>G	ENST00000368679.4	-	13	1682	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.L458P	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	458	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCGGCTTCAGGGTACAGGT	0.547																																						uc001ljk.2																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1372-1374)cTg>cCg		Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.							96	83	88					10																	127755335		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127755335A>G	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1373T>C	10.37:g.127755335A>G	ENSP00000357668:p.Leu458Pro					ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.3_Missense_Mutation_p.L458P|ADAM12_uc001ljn.3_Missense_Mutation_p.L455P|ADAM12_uc001ljl.4_Missense_Mutation_p.L455P	p.L458P	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	12	1786	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	458			Disintegrin.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1373T>C	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257129	0.80246	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.18657	2.2;2.2	4.56	4.56	0.56223	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000009	T	0.51432	0.1674	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.61312	-0.7088	10	0.87932	D	0	.	14.3876	0.66956	1.0:0.0:0.0:0.0	.	455;455;458;455;458	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	P	458	ENSP00000357668:L458P;ENSP00000357665:L458P	ENSP00000357665:L458P	L	-	2	0	ADAM12	127745325	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	9.079000	0.94032	2.030000	0.59900	0.533000	0.62120	CTG		0.547	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			G	127755335	A	G	127755335	3	3	213	1	0	0	0	0	1	0	0	0	236	188	7	4	1508	4	ADAM12	10	127755335	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	106635119	127755335	7779412	34	14925											
MICAL2	9645	broad.mit.edu	37	chr11	12278418	12278418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgtgtacgtgatggaacgGctgagcgccgagggccactt	7	8	16	10	5	0	2	0	2	0	0	0	4	0	3	2	3	3	2	2	3	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:12278418G>A	ENST00000256194.4	+	24	3330	c.3042G>A	c.(3040-3042)cgG>cgA	p.R1014R	MICAL2_ENST00000342902.5_Silent_p.R993R|MICAL2_ENST00000379612.3_Silent_p.R788R|MICAL2_ENST00000537344.1_Silent_p.R824R|MICAL2_ENST00000527546.1_Silent_p.R824R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1014	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.R1014R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGATGGAACGGCTGAGCGCCG	0.572																																						uc001mjz.3																			1	Substitution - coding silent(1)	p.R1014R(2)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3040-3042)cgG>cgA		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							128	102	111					11																	12278418		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278418G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3042G>A	11.37:g.12278418G>A						MICAL2_uc010rch.1_Silent_p.R824R|MICAL2_uc001mka.3_Silent_p.R1014R|MICAL2_uc010rci.2_Silent_p.R993R|MICAL2_uc001mkb.3_Silent_p.R788R|MICAL2_uc001mkc.3_Silent_p.R767R|MICAL2_uc001mkd.3_Silent_p.R596R|MICAL2_uc010rcj.2_Silent_p.R226R|MICAL2_uc001mkf.3_Non-coding_Transcript	p.R1014R	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	23	3330	+			1014			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.3042G>A	CCDS7809.1																																																																																				0.572	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12278418	G	A	12278418	2	1	213	1	0	0	0	0	0	0	0	1	9570	1190	42	3		3	MICAL2	11	12278418	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		12278418	122728098	35	14926											
AHNAK	79026	broad.mit.edu	37	chr11	62288237	62288237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctttgacatccactttgGgacctttcagatctccctcc	6	13	7	15	0	2	2	1	1	1	1	5	3	4	3	5	2	0	0	5	2	0	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62288237G>A	ENST00000378024.4	-	5	13926	c.13652C>T	c.(13651-13653)cCc>cTc	p.P4551L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4551					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTTGGGACCTTTCAG	0.423																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13651-13653)cCc>cTc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							79	76	77					11																	62288237		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288237G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13652C>T	11.37:g.62288237G>A	ENSP00000367263:p.Pro4551Leu					AHNAK_uc001ntk.1_Intron	p.P4551L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	13952	-		Melanoma(852;0.155)	4551					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13652C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119717	0.77323	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.69	4.69	0.59074	.	0.584128	0.14744	N	0.301014	T	0.24586	0.0596	M	0.93507	3.425	0.80722	D	1	P	0.48764	0.915	P	0.47346	0.544	T	0.39961	-0.9588	10	0.62326	D	0.03	.	17.6231	0.88087	0.0:0.0:1.0:0.0	.	4551	Q09666	AHNK_HUMAN	L	4551	ENSP00000367263:P4551L	ENSP00000367263:P4551L	P	-	2	0	AHNAK	62044813	1.000000	0.71417	0.487000	0.27428	0.501000	0.33797	6.945000	0.75947	2.318000	0.78349	0.643000	0.83706	CCC		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62288237	G	A	62288237	3	1	213	1	0	0	0	0	1	0	0	0	414	1232	43	3	4140	3	AHNAK	11	62288237	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	50009819	62288237	72718279	36	14927											
GANAB	23193	broad.mit.edu	37	chr11	62396739	62396739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaaatggtcccactcGgcagtgttgtcccctgtcca	7	12	8	14	1	2	0	1	0	1	0	6	0	5	0	4	2	0	2	4	2	1	2	rs192967712		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62396739G>A	ENST00000356638.3	-	16	1879	c.1863C>T	c.(1861-1863)gcC>gcT	p.A621A	GANAB_ENST00000534779.1_Silent_p.A529A|GANAB_ENST00000540933.1_Silent_p.A524A|GANAB_ENST00000346178.4_Silent_p.A643A	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	621					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GGTCCCACTCGGCAGTGTTGT	0.527																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1927-1929)gcC>gcT		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							97	88	91					11																	62396739		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396739G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1863C>T	11.37:g.62396739G>A						GANAB_uc001nub.3_Silent_p.A621A|GANAB_uc001nuc.3_Silent_p.A524A|GANAB_uc010rma.2_Silent_p.A529A|GANAB_uc010rmb.2_Silent_p.A507A	p.A643A	NM_198335	NP_938149	Q14697	GANAB_HUMAN			16	1962	-			621					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.1929C>T	CCDS8026.1																																																																																				0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		A	62396739	G	A	62396739	2	1	213	1	0	0	0	0	0	0	0	1	6233	1103	39	2		2	GANAB	11	62396739	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	108502	62396739	72609777	37	14928											
MUS81	80198	broad.mit.edu	37	chr11	65628471	65628471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctccgacggtacccaCtgccgctgcgcagcgggaag	6	6	13	16	5	0	0	0	0	0	0	2	2	2	1	4	2	4	4	4	2	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:65628471C>T	ENST00000308110.4	+	2	512	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	CFL1_ENST00000531413.1_5'Flank|CFL1_ENST00000534769.1_Intron|MUS81_ENST00000533035.1_5'UTR|CFL1_ENST00000308162.5_5'Flank|CFL1_ENST00000525451.2_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	55					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGTACCCACTGCCGCTGCG	0.682								Homologous recombination																														uc001ofv.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(163-165)Ctg>Ttg	Homologous recombination	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.							33	40	38					11																	65628471		2200	4296	6496	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65628471C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.163C>T	11.37:g.65628471C>T						CFL1_uc001ofs.3_5'Flank|CFL1_uc001oft.3_5'Flank|MUS81_uc001ofx.4_5'Flank	p.L55L	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	1	516	+			55					Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.163C>T	CCDS8115.1																																																																																				0.682	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		T	65628471	C	T	65628471	2	4	213	1	0	0	0	0	0	0	0	1	9988	564	20	3		3	MUS81	11	65628471	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	3231732	65628471	69378045	38	14929											
OR2AT4	341152	broad.mit.edu	37	chr11	74800717	74800717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaatagatagaagacGggtgagccatccactgattc	13	8	10	10	1	0	5	0	2	0	3	2	5	1	5	3	1	2	0	3	1	4	3	rs201772462		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:74800717G>A	ENST00000305159.3	-	1	82	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GATAGAAGACGGGTGAGCCAT	0.478																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(40-42)ccC>ccT		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							54	56	55					11																	74800717		2200	4293	6493	SO:0001819	synonymous_variant	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800717G>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.42C>T	11.37:g.74800717G>A							p.P14P	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			0	42	-			14					B9EGZ8	Silent	SNP	ENST00000305159.3	37	c.42C>T	CCDS31639.1																																																																																				0.478	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		A	74800717	G	A	74800717	2	1	213	1	0	0	0	0	0	0	0	1	10987	1103	39	2		2	OR2AT4	11	74800717	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	9172246	74800717	60205799	39	14930											
MLL	4297	broad.mit.edu	37	chr11	118375649	118375649	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagccctccttgtggttcAgtagagcaaggtcatggcaa	9	11	11	10	0	3	1	2	0	1	1	4	1	4	1	2	3	2	4	2	3	4	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:118375649A>C	ENST00000389506.5	+	27	9033	c.9033A>C	c.(9031-9033)tcA>tcC	p.S3011S	KMT2A_ENST00000534358.1_Silent_p.S3014S|KMT2A_ENST00000354520.4_Silent_p.S2973S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3011					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTTGTGGTTCAGTAGAGCAAG	0.502																																						uc001pta.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(9031-9033)tcA>tcC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.							140	110	120					11																	118375649		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375649A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9033A>C	11.37:g.118375649A>C						MLL_uc001ptb.3_Silent_p.S3014S	p.S3011S	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	9056	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3011					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.9033A>C	CCDS31686.1																																																																																				0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118375649	A	C	118375649	2	2	213	1	0	0	0	0	0	0	0	1	9620	175	7	5		5	MLL	11	118375649	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	43574932	118375649	16630867	40	14931											
C12orf35	55196	broad.mit.edu	37	chr12	32137685	32137685	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccaaaacaaaacataaaAgcttaccaaggacagaacaa	23	3	4	11	0	0	1	0	0	0	1	0	2	0	2	2	1	5	1	2	1	10	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:32137685A>C	ENST00000312561.4	+	4	4210	c.3796A>C	c.(3796-3798)Agc>Cgc	p.S1266R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1266																	AAAACATAAAAGCTTACCAAG	0.348																																						uc001rks.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59						c.(3796-3798)Agc>Cgc		Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.							48	45	46					12																	32137685		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32137685A>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3796A>C	12.37:g.32137685A>C	ENSP00000310338:p.Ser1266Arg						p.S1266R	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		3	4210	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1266					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3796A>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449952	0.26074	.	.	ENSG00000174718	ENST00000312561	T	0.13901	2.55	5.02	1.1	0.20463	.	1.710450	0.02811	N	0.124322	T	0.10937	0.0267	L	0.29908	0.895	0.09310	N	1	B	0.25441	0.126	B	0.24848	0.056	T	0.28267	-1.0049	9	.	.	.	.	4.7388	0.13003	0.6997:0.0:0.1613:0.139	.	1266	Q9HCM1	CL035_HUMAN	R	1266	ENSP00000310338:S1266R	.	S	+	1	0	C12orf35	32028952	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.123000	0.15708	0.343000	0.23821	-0.371000	0.07208	AGC		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32137685	A	C	32137685	3	2	213	1	0	0	0	0	1	0	0	0	1682	72	3	5	3798	5	C12orf35	12	32137685	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		32137685	101714210	41	14932											
LRP1	4035	broad.mit.edu	37	chr12	57562923	57562923	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcccccaccgccagAcaatgactgtggggacaaca	10	7	8	16	1	1	2	0	1	1	1	2	3	2	3	5	2	1	0	5	2	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:57562923A>G	ENST00000243077.3	+	20	3462	c.2996A>G	c.(2995-2997)gAc>gGc	p.D999G	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	999	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACCGCCAGACAATGACTGT	0.627																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.e20-1		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						63	62	62					12																	57562923		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57562923A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2996-1A>G	12.37:g.57562923A>G						LRP1_uc009zpi.1_Splice_Site	p.D999_splice	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3462	+			999			LDL-receptor class A 6.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2996_splice	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373099	0.82573	.	.	ENSG00000123384	ENST00000243077	D	0.95756	-3.8	4.97	4.97	0.65823	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.067370	0.56097	D	0.000036	D	0.97736	0.9257	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98258	1.0497	9	.	.	.	.	13.7593	0.62956	1.0:0.0:0.0:0.0	.	999	Q07954	LRP1_HUMAN	G	999	ENSP00000243077:D999G	.	D	+	2	0	LRP1	55849190	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	9.062000	0.93920	2.096000	0.63516	0.459000	0.35465	GAC		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Missense_Mutation	G	57562923	A	G	57562923	5	3	213	1	0	0	0	0	0	0	1	0	8951	289	10	4	3074	4	LRP1	12	57562923	Splice_Site	SNP	A	TCGA-28-5213-01A-01D-1486-08	25425238	57562923	76288972	42	14933											
UBE3B	89910	broad.mit.edu	37	chr12	109921388	109921388	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagacctcgagagcatGgttcatcgatagagcccgtc	9	9	11	12	3	2	3	2	0	1	3	6	5	2	3	2	1	2	2	2	1	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:109921388G>A	ENST00000342494.3	+	3	627	c.32G>A	c.(31-33)tGg>tAg	p.W11*	UBE3B_ENST00000434735.2_Nonsense_Mutation_p.W11*|UBE3B_ENST00000537063.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000536398.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000280774.5_Nonsense_Mutation_p.W11*|UBE3B_ENST00000540230.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000340074.5_Nonsense_Mutation_p.W11*	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	11					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCGAGAGCATGGTTCATCGAT	0.512																																						uc001top.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(31-33)tGg>tAg		Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.							142	124	130					12																	109921388		2203	4300	6503	SO:0001587	stop_gained	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109921388G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.32G>A	12.37:g.109921388G>A	ENSP00000340596:p.Trp11*					UBE3B_uc001toq.3_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.3_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.3_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.3_Nonsense_Mutation_p.W11*	p.W11*	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN			2	635	+			11					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP	ENST00000342494.3	37	c.32G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	40	8.219588	0.98712	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	.	.	.	5.36	4.39	0.52855	.	0.237415	0.43416	D	0.000574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.0701	0.14602	0.2377:0.0:0.7623:0.0	.	.	.	.	X	11	.	ENSP00000280774:W11X	W	+	2	0	UBE3B	108405771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.565000	0.73974	2.785000	0.95823	0.655000	0.94253	TGG		0.512	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		A	109921388	G	A	109921388	4	1	213	1	0	0	0	0	0	1	0	0	16877	1357	47	3	34	3	UBE3B	12	109921388	Nonsense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	52358465	109921388	23930507	43	14934											
KDM2B	84678	broad.mit.edu	37	chr12	121880495	121880495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggtgctgggtcccgCggtgggggagctggagcggg	2	7	21	11	4	0	0	0	0	0	0	2	2	1	2	2	7	3	2	2	7	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:121880495C>T	ENST00000377071.4	-	19	2821	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.A285T|KDM2B_ENST00000377069.4_Missense_Mutation_p.A848T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	917					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGGTCCCGCGGTGGGGGAG	0.692																																						uc001uat.3																			0		p.D916N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2749-2751)Gcg>Acg		Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.							14	14	14					12																	121880495		1872	4081	5953	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880495C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2749G>A	12.37:g.121880495C>T	ENSP00000366271:p.Ala917Thr					KDM2B_uc010szy.2_Missense_Mutation_p.A357T|KDM2B_uc001uaq.3_Missense_Mutation_p.A357T|KDM2B_uc001uar.3_Missense_Mutation_p.A508T|KDM2B_uc001uas.3_Missense_Mutation_p.A848T|KDM2B_uc021rfd.1_Missense_Mutation_p.A848T|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.A917T|KDM2B_uc001uao.3_Missense_Mutation_p.A165T|KDM2B_uc010szx.2_Missense_Mutation_p.A165T|KDM2B_uc001uap.3_Non-coding_Transcript	p.A917T	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			18	2853	-			917					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2749G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640192	0.67244	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25912	2.07;2.38;1.77	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000014	T	0.49355	0.1552	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;P;D;P	0.67103	0.819;0.87;0.949;0.902	T	0.26087	-1.0113	10	0.48119	T	0.1	-26.0179	20.3928	0.98949	0.0:1.0:0.0:0.0	.	357;917;848;360	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	905;285;848;917;360;920	ENSP00000437821:A285T;ENSP00000366269:A848T;ENSP00000366271:A917T	ENSP00000261824:A920T	A	-	1	0	KDM2B	120364878	1.000000	0.71417	0.214000	0.23707	0.051000	0.14879	7.750000	0.85110	2.813000	0.96785	0.655000	0.94253	GCG		0.692	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		T	121880495	C	T	121880495	3	4	213	1	0	0	0	0	1	0	0	0	8125	768	27	1	1333	1	KDM2B	12	121880495	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	11959107	121880495	11971400	44	14935											
SACS	26278	broad.mit.edu	37	chr13	23942617	23942617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtggtggcgttgtctgaCcaaatcgacctaaaatacgg	12	9	11	9	3	1	1	0	1	1	0	2	2	1	1	2	3	1	1	2	3	5	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr13:23942617C>A	ENST00000382292.3	-	4	542	c.269G>T	c.(268-270)gGt>gTt	p.G90V	SACS_ENST00000382298.3_Missense_Mutation_p.G90V|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	90					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGTTGTCTGACCAAATCGACC	0.393																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(268-270)gGt>gTt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							93	80	84					13																	23942617		1568	3582	5150	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23942617C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.269G>T	13.37:g.23942617C>A	ENSP00000371729:p.Gly90Val					SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	p.G90V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	4	858	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	90					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.269G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334362	0.60853	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	M	0.87097	2.86	0.80722	D	1	P	0.47409	0.895	P	0.56514	0.8	D	0.90045	0.4145	10	0.87932	D	0	.	19.4399	0.94815	0.0:1.0:0.0:0.0	.	90	Q9NZJ4	SACS_HUMAN	V	90	ENSP00000371729:G90V;ENSP00000371735:G90V	ENSP00000371729:G90V	G	-	2	0	SACS	22840617	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.794000	0.85869	2.605000	0.88082	0.591000	0.81541	GGT		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23942617	C	A	23942617	3	1	213	1	0	0	0	0	1	0	0	0	13804	507	18	5	13494	5	SACS	13	23942617	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		23942617	91227261	45	14936											
ATL1	51062	broad.mit.edu	37	chr14	51027003	51027003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccaagaaccgcagggAcagaaacagttggggtgagt	13	5	15	8	1	0	3	0	1	0	2	0	4	0	4	2	4	2	2	2	4	3	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:51027003A>G	ENST00000358385.6	+	1	261	c.20A>G	c.(19-21)gAc>gGc	p.D7G	ATL1_ENST00000556478.2_3'UTR|ATL1_ENST00000441560.2_Missense_Mutation_p.D7G|ATL1_ENST00000357032.3_Missense_Mutation_p.D7G|ATL1_ENST00000354525.4_Missense_Mutation_p.D7G	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	7					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AACCGCAGGGACAGAAACAGT	0.632																																						uc021rsw.1																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(19-21)gAc>gGc		Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.							81	70	74					14																	51027003		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51027003A>G	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.20A>G	14.37:g.51027003A>G	ENSP00000351155:p.Asp7Gly					ATL1_uc001wyd.4_Missense_Mutation_p.D7G|ATL1_uc001wyf.4_Missense_Mutation_p.D7G|ATL1_uc001wye.4_Missense_Mutation_p.D7G|ATL1_uc021rsx.1_Missense_Mutation_p.D7G	p.D7G	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			0	261	+			7					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.20A>G	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414506	0.42817	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000553509;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.78126	-1.14;0.88;-1.15;-1.15;-1.14	5.43	4.22	0.49857	.	0.124466	0.56097	D	0.000030	T	0.75481	0.3855	N	0.19112	0.55	0.34814	D	0.738007	D;D	0.60575	0.98;0.988	D;D	0.73708	0.956;0.981	T	0.76389	-0.2977	10	0.23302	T	0.38	-12.744	8.7625	0.34683	0.8089:0.1911:0.0:0.0	.	7;7	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	G	7	ENSP00000413675:D7G;ENSP00000452506:D7G;ENSP00000351155:D7G;ENSP00000349534:D7G;ENSP00000346522:D7G	ENSP00000346522:D7G	D	+	2	0	ATL1	50096753	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.865000	0.48412	2.064000	0.61679	0.402000	0.26972	GAC		0.632	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			G	51027003	A	G	51027003	3	3	213	1	0	0	0	0	1	0	0	0	1106	275	10	4	22	4	ATL1	14	51027003	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		51027003	56322537	46	14937											
CLMN	79789	broad.mit.edu	37	chr14	95677204	95677204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcaaagtcctgcacCgccacgccatacctgaagga	10	5	9	17	3	0	1	0	1	0	0	1	2	1	2	6	1	3	2	6	1	3	1	rs139868659	byFrequency	TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:95677204C>T	ENST00000298912.4	-	7	734	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	207	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGTCCTGCACCGCCACGCCAT	0.582													C|||	2	0.000399361	0	0	5008	,	,		16474	0		0.002	False		,,,				2504	0					uc001yef.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(619-621)gcG>gcA		Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	84	90	88		621	-4.2	1	14	dbSNP_134	88	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	CLMN	NM_024734.3		0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538		207/1003	95677204	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95677204C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.621G>A	14.37:g.95677204C>T							p.A207A	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	6	737	-			207			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.621G>A	CCDS9933.1																																																																																				0.582	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			T	95677204	C	T	95677204	2	4	213	1	0	0	0	0	0	0	0	1	3542	639	23	2		2	CLMN	14	95677204	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	44650201	95677204	11672336	47	14938											
ATP10A	57194	broad.mit.edu	37	chr15	25953147	25953147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcaggttggtctccaGgcgaatggcagactggaaga	11	7	15	8	1	1	2	0	0	1	2	2	4	1	3	1	5	1	3	1	5	3	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:25953147G>A	ENST00000356865.6	-	12	2662	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	851					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGGTCTCCAGGCGAATGGCA	0.537																																						uc010ayu.3																			0		p.R850C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2551-2553)Ctg>Ttg		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							74	65	68					15																	25953147		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953147G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2551C>T	15.37:g.25953147G>A							p.L851L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2657	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	851					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2551C>T	CCDS32178.1																																																																																				0.537	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	25953147	G	A	25953147	2	1	213	1	0	0	0	0	0	0	0	1	1116	991	35	3		3	ATP10A	15	25953147	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		25953147	76578245	48	14939											
SERINC4	619189	broad.mit.edu	37	chr15	44090144	44090144	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttccaggaatgggcaaaAgctgtaataagcaccaactg	14	9	10	8	0	0	0	0	0	0	0	1	1	1	1	2	2	3	5	2	2	6	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:44090144A>G	ENST00000319327.6	-	5	840	c.606T>C	c.(604-606)gcT>gcC	p.A202A	HYPK_ENST00000458412.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Silent_p.A202A|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000600633.1_5'Flank|HYPK_ENST00000406925.1_5'UTR|HYPK_ENST00000442995.2_5'Flank|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Silent_p.A81A|SERINC4_ENST00000249714.3_Missense_Mutation_p.L29P	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	202					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AATGGGCAAAAGCTGTAATAA	0.463											OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001zte.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(85-87)cTt>cCt		Homo sapiens serine incorporator 4 (SERINC4), mRNA.							86	87	87					15																	44090144		2198	4298	6496	SO:0001819	synonymous_variant	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44090144A>G	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.606T>C	15.37:g.44090144A>G			OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	921	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank|C15orf63_uc001ztg.1_5'Flank	p.L29P	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	4	718	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	272					B2RN41|Q3YL75	Missense_Mutation	SNP	ENST00000319327.6	37	c.86T>C	CCDS58360.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496472	0.44352	.	.	ENSG00000184716	ENST00000249714	T	0.51817	0.69	5.72	0.525	0.17072	.	.	.	.	.	T	0.32823	0.0842	L	0.39397	1.21	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08848	-1.0702	9	0.45353	T	0.12	-14.9976	4.7353	0.12984	0.3625:0.0:0.5012:0.1363	.	29	A6NH21-2	.	P	29	ENSP00000249714:L29P	ENSP00000249714:L29P	L	-	2	0	SERINC4	41877436	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	0.930000	0.28858	0.053000	0.16036	-0.366000	0.07423	CTT		0.463	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			G	44090144	A	G	44090144	2	3	213	1	0	0	0	0	0	0	0	1	14082	72	3	4		4	SERINC4	15	44090144	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	18136997	44090144	58441248	49	14940											
GRIN2A	2903	broad.mit.edu	37	chr16	9857047	9857047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattttcttgtacacgcGtctattgctgcaggaattta	9	15	9	8	2	2	0	0	0	2	0	2	1	2	1	0	2	3	4	0	2	4	8	rs568622613		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9857047G>A	ENST00000396573.2	-	14	4663	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1452C|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1452C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1452					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTACACGCGTCTATTGCTG	0.363													G|||	1	0.000199681	0	0	5008	,	,		21745	0		0	False		,,,				2504	0.001					uc010uym.2																			0		p.R1452H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4354-4356)Cgc>Tgc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						62	66	64					16																	9857047		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857047G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4354C>T	16.37:g.9857047G>A	ENSP00000379818:p.Arg1452Cys					GRIN2A_uc002czo.4_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	p.R1452C	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4664	-			1452					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4354C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964230	0.74131	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.15487	2.42;2.42;2.42	5.79	5.79	0.91817	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16453	-1.0402	9	.	.	.	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1452	Q12879	NMDE1_HUMAN	C	1452	ENSP00000379818:R1452C;ENSP00000332549:R1452C;ENSP00000379820:R1452C	.	R	-	1	0	GRIN2A	9764548	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	6.299000	0.72770	2.733000	0.93635	0.655000	0.94253	CGC		0.363	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9857047	G	A	9857047	3	1	213	1	0	0	0	0	1	0	0	0	6779	1145	40	1	44	1	GRIN2A	16	9857047	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		9857047	80497706	50	14941											
GRIN2A	2903	broad.mit.edu	37	chr16	9934645	9934645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaactgccatgactgcccGttgatagaccacctggatgc	9	8	10	14	1	0	3	0	2	0	1	0	4	0	4	5	1	4	1	5	1	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9934645G>A	ENST00000396573.2	-	8	1819	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R504W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R504W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R347W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R504W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R504W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	504			R -> W (in FESD). {ECO:0000269|PubMed:23933820}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGACTGCCCGTTGATAGACC	0.453																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1510-1512)Cgg>Tgg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						77	61	66					16																	9934645		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934645G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1510C>T	16.37:g.9934645G>A	ENSP00000379818:p.Arg504Trp					GRIN2A_uc002czo.4_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R347W|GRIN2A_uc002czr.4_Missense_Mutation_p.R504W	p.R504W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			7	1820	-			504					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1510C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824031	0.50739	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.3	4.33	0.51752	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.126603	0.53938	D	0.000051	T	0.73249	0.3563	M	0.85099	2.735	0.48571	D	0.999677	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.67725	0.871;0.953;0.935	T	0.77598	-0.2528	9	.	.	.	.	14.3421	0.66633	0.0:0.0:0.8509:0.1491	.	347;504;504	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	504;504;347;504;504	ENSP00000379818:R504W;ENSP00000385872:R504W;ENSP00000441572:R347W;ENSP00000332549:R504W;ENSP00000379820:R504W	.	R	-	1	2	GRIN2A	9842146	0.997000	0.39634	0.547000	0.28179	0.331000	0.28603	2.593000	0.46180	1.203000	0.43233	0.655000	0.94253	CGG		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9934645	G	A	9934645	3	1	213	1	0	0	0	0	1	0	0	0	6779	1144	40	1	2912	1	GRIN2A	16	9934645	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	77598	9934645	80420108	51	14942											
CDH15	1013	broad.mit.edu	37	chr16	89261354	89261354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgagggtgacggctcggtgGcggggacgctgagctccatc	6	6	18	11	5	0	2	0	2	0	0	3	4	1	3	1	6	1	3	1	6	0	0			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:89261354G>A	ENST00000289746.2	+	14	2301	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	746					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGGCTCGGTGGCGGGGACGCT	0.637																																						uc002fmt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2236-2238)Gcg>Acg		Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.							27	25	26					16																	89261354		2179	4283	6462	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261354G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2236G>A	16.37:g.89261354G>A	ENSP00000289746:p.Ala746Thr						p.A746T	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	13	2313	+			746						Missense_Mutation	SNP	ENST00000289746.2	37	c.2236G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607289	0.66558	.	.	ENSG00000129910	ENST00000289746	D	0.82255	-1.59	4.93	4.93	0.64822	Cadherin, cytoplasmic domain (1);	0.000000	0.51477	D	0.000082	D	0.91533	0.7326	M	0.83774	2.66	0.44908	D	0.997928	D	0.89917	1.0	D	0.77557	0.99	D	0.92933	0.6365	10	0.87932	D	0	.	16.9044	0.86122	0.0:0.0:1.0:0.0	.	746	P55291	CAD15_HUMAN	T	746	ENSP00000289746:A746T	ENSP00000289746:A746T	A	+	1	0	CDH15	87788855	1.000000	0.71417	0.677000	0.29947	0.007000	0.05969	5.175000	0.65021	2.279000	0.76181	0.561000	0.74099	GCG		0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		A	89261354	G	A	89261354	3	1	213	1	0	0	0	0	1	0	0	0	3100	1203	42	3	2290	3	CDH15	16	89261354	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	79326709	89261354	1093399	52	14943											
PFAS	5198	broad.mit.edu	37	chr17	8158344	8158344	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcaggcccattgttcaGgctgaacttctccaccccaa	10	9	6	16	0	3	1	2	1	1	0	4	1	3	1	5	2	1	2	5	2	2	3	rs547312647		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:8158344G>A	ENST00000314666.6	+	4	411		c.e4-1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCATTGTTCAGGCTGAACTTC	0.632																																						uc002gkr.3																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.e4-1		Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						101	68	79					17																	8158344		2203	4300	6503	SO:0001630	splice_region_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158344G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.279-1G>A	17.37:g.8158344G>A						PFAS_uc010vuv.2_Splice_Site	p.R93_splice	NM_012393	NP_036525	O15067	PUR4_HUMAN			4	420	+			93					A6H8V8	Splice_Site	SNP	ENST00000314666.6	37	c.279_splice	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873345	0.51695	.	.	ENSG00000178921	ENST00000314666	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.585	0.84725	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFAS	8099069	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	8.690000	0.91272	2.571000	0.86741	0.561000	0.74099	.		0.632	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		Intron	A	8158344	G	A	8158344	5	1	213	1	0	0	0	0	0	0	1	0	11754	1014	35	3	288	3	PFAS	17	8158344	Splice_Site	SNP	G	TCGA-28-5213-01A-01D-1486-08		8158344	73036866	53	14944											
NTN1	9423	broad.mit.edu	37	chr17	9066204	9066204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctttcggggcgcaagagcGgaggtgtctgcctcaactgt	7	9	15	10	3	2	1	1	0	1	1	3	2	2	2	1	4	4	2	1	4	2	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:9066204G>A	ENST00000173229.2	+	3	1200	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	NTN1_ENST00000546090.1_Missense_Mutation_p.G365R|NTN1_ENST00000538852.1_Missense_Mutation_p.G365R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	365	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GCGCAAGAGCGGAGGTGTCTG	0.627																																						uc002glw.4																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1093-1095)Gga>Aga		Homo sapiens netrin 1 (NTN1), mRNA.							42	37	38					17																	9066204		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066204G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1093G>A	17.37:g.9066204G>A	ENSP00000173229:p.Gly365Arg						p.G365R	NM_004822	NP_004813	O95631	NET1_HUMAN			2	1200	+			365			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1093G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892235	0.91889	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.61510	0.1;0.1;0.1	4.62	4.62	0.57501	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90352	0.4367	10	0.87932	D	0	.	17.8203	0.88648	0.0:0.0:1.0:0.0	.	365	O95631	NET1_HUMAN	R	365	ENSP00000173229:G365R;ENSP00000443259:G365R;ENSP00000441611:G365R	ENSP00000173229:G365R	G	+	1	0	NTN1	9006929	1.000000	0.71417	0.988000	0.46212	0.874000	0.50279	9.324000	0.96373	2.293000	0.77203	0.650000	0.86243	GGA		0.627	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			A	9066204	G	A	9066204	3	1	213	1	0	0	0	0	1	0	0	0	10700	1117	39	2	1099	2	NTN1	17	9066204	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	907860	9066204	72129006	54	14945											
DGKE	8526	broad.mit.edu	37	chr17	54925329	54925329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcaaagccctacaactctGtactcttctcccatattatt	11	15	2	13	0	4	0	1	0	3	0	5	0	4	0	2	0	4	1	2	0	7	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:54925329G>T	ENST00000284061.3	+	5	971	c.791G>T	c.(790-792)tGt>tTt	p.C264F		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	264	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTACAACTCTGTACTCTTCTC	0.388																																						uc002iur.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(790-792)tGt>tTt		Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.							104	104	104					17																	54925329		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54925329G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.791G>T	17.37:g.54925329G>T	ENSP00000284061:p.Cys264Phe					DGKE_uc002ius.1_Missense_Mutation_p.C264F	p.C264F	NM_003647	NP_003638	P52429	DGKE_HUMAN			4	971	+	Breast(9;3.59e-07)		264			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.791G>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599331	0.87055	.	.	ENSG00000153933	ENST00000284061	T	0.20881	2.04	5.57	5.57	0.84162	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.15975	0.35	0.80722	D	1	B;B	0.24963	0.115;0.115	B;B	0.28139	0.086;0.086	T	0.05146	-1.0903	10	0.02654	T	1	.	19.543	0.95281	0.0:0.0:1.0:0.0	.	264;264	A1L4Q0;P52429	.;DGKE_HUMAN	F	264	ENSP00000284061:C264F	ENSP00000284061:C264F	C	+	2	0	DGKE	52280328	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	9.144000	0.94629	2.601000	0.87937	0.591000	0.81541	TGT		0.388	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		T	54925329	G	T	54925329	3	4	213	1	0	0	0	0	1	0	0	0	4468	1377	48	5	805	5	DGKE	17	54925329	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	45859125	54925329	26269881	55	14946											
MIDN	90007	broad.mit.edu	37	chr19	1257138	1257138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcacccagccgcaaggccgGccgcagcgacagcagtagca	10	2	13	16	4	1	0	1	0	0	0	1	1	1	0	4	2	4	5	4	2	2	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:1257138G>A	ENST00000591446.2	+	7	1683	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	MIDN_ENST00000300952.2_Missense_Mutation_p.G425D|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	425						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAAGGCCGGCCGCAGCGAC	0.697																																						uc002lrp.3																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1273-1275)gGc>gAc		Homo sapiens midnolin (MIDN), mRNA.							18	23	21					19																	1257138		2198	4289	6487	SO:0001583	missense	90007					nucleolus		g.chr19:1257138G>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1274G>A	19.37:g.1257138G>A	ENSP00000467679:p.Gly425Asp						p.G425D	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1789	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	425					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1274G>A	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.707894	0.68615	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	3.44	0.39384	.	0.204912	0.41500	U	0.000864	T	0.63896	0.2550	L	0.47716	1.5	0.46823	D	0.999216	D	0.69078	0.997	P	0.61397	0.888	T	0.60791	-0.7193	9	0.25751	T	0.34	-17.5712	13.6033	0.62033	0.0:0.0:1.0:0.0	.	425	Q504T8	MIDN_HUMAN	D	425	.	ENSP00000300952:G425D	G	+	2	0	MIDN	1208138	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	6.478000	0.73596	1.756000	0.51951	0.486000	0.48141	GGC		0.697	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			A	1257138	G	A	1257138	3	1	213	1	0	0	0	0	1	0	0	0	9579	1203	42	3	1300	3	MIDN	19	1257138	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		1257138	57871845	56	14947											
FUT3	2525	broad.mit.edu	37	chr19	5844200	5844200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccgtacacgtccaccttGagatgagcctgcaggctctg	7	9	11	14	3	1	2	0	2	1	1	3	3	3	2	4	1	3	3	4	1	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:5844200G>A	ENST00000303225.6	-	3	1285	c.651C>T	c.(649-651)ctC>ctT	p.L217L	FUT3_ENST00000458379.2_Silent_p.L217L|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Silent_p.L217L|FUT3_ENST00000589918.1_Silent_p.L217L	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	217					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTCCACCTTGAGATGAGCCT	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(649-651)ctC>ctT		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.							55	53	53					19																	5844200		2202	4300	6502	SO:0001819	synonymous_variant	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844200G>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.651C>T	19.37:g.5844200G>A						FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L|FUT3_uc021unn.1_Silent_p.L217L	p.L217L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	748	-			217					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	c.651C>T	CCDS12153.1																																																																																				0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5844200	G	A	5844200	2	1	213	1	0	0	0	0	0	0	0	1	6105	1277	45	3		3	FUT3	19	5844200	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	4587062	5844200	53284783	57	14948											
RAB11B	9230	broad.mit.edu	37	chr19	8464851	8464851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatcggcgtggagttcGccacccgcagcatccaggtg	7	6	13	15	4	0	0	0	0	0	0	3	1	1	1	4	3	1	4	4	3	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:8464851G>T	ENST00000328024.6	+	2	363	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	RAB11B_ENST00000594216.1_Missense_Mutation_p.A49S|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	49					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						CGTGGAGTTCGCCACCCGCAG	0.652																																						uc002mju.4																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(145-147)Gcc>Tcc		Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.							84	72	76					19																	8464851		2203	4300	6503	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464851G>T	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.145G>T	19.37:g.8464851G>T	ENSP00000333547:p.Ala49Ser					RAB11B_uc021uof.1_5'Flank	p.A49S	NM_004218	NP_004209	Q15907	RB11B_HUMAN			1	241	+			49					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.145G>T	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324787	0.95708	.	.	ENSG00000185236	ENST00000328024	T	0.79653	-1.29	4.23	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83308	0.5226	L	0.28556	0.865	0.80722	D	1	P;P	0.47604	0.852;0.898	D;P	0.64237	0.923;0.882	D	0.85739	0.1336	10	0.87932	D	0	.	15.6927	0.77466	0.0:0.0:1.0:0.0	.	49;49	B4DMK0;Q15907	.;RB11B_HUMAN	S	49	ENSP00000333547:A49S	ENSP00000333547:A49S	A	+	1	0	RAB11B	8370851	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.657000	0.98554	2.341000	0.79615	0.462000	0.41574	GCC		0.652	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		T	8464851	G	T	8464851	3	4	213	1	0	0	0	0	1	0	0	0	12892	1087	38	5	151	5	RAB11B	19	8464851	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	2620651	8464851	50664132	58	14949											
MUC16	94025	broad.mit.edu	37	chr19	9069909	9069909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggaaaagtggagagcCtggtgatggtttctgtggag	12	9	16	4	0	1	2	0	1	1	1	1	5	1	4	1	5	1	1	1	5	4	1	rs373641303		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9069909C>A	ENST00000397910.4	-	3	17740	c.17537G>T	c.(17536-17538)aGg>aTg	p.R5846M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5848	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGAGAGCCTGGTGATGGT	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17536-17538)aGg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		C	MET/ARG	0,3880		0,0,1940	207	195	199		17537	-2.1	0	19		199	2,8234		0,2,4116	no	missense	MUC16	NM_024690.2	91	0,2,6056	AA,AC,CC		0.0243,0.0,0.0165	benign	5846/14508	9069909	2,12114	1940	4118	6058	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069909C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17537G>T	19.37:g.9069909C>A	ENSP00000381008:p.Arg5846Met						p.R5846M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	17741	-			5848			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17537G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.566	-0.300766	0.05495	0.0	2.43E-4	ENSG00000181143	ENST00000397910	T	0.02974	4.09	1.76	-2.09	0.07232	.	.	.	.	.	T	0.02012	0.0063	L	0.27053	0.805	.	.	.	B	0.20671	0.047	B	0.11329	0.006	T	0.45991	-0.9223	8	0.87932	D	0	.	2.0116	0.03489	0.2591:0.3844:0.0:0.3565	.	5846	B5ME49	.	M	5846	ENSP00000381008:R5846M	ENSP00000381008:R5846M	R	-	2	0	MUC16	8930909	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.228000	0.09114	-0.441000	0.07201	0.306000	0.20318	AGG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9069909	C	A	9069909	3	1	213	1	0	0	0	0	1	0	0	0	9973	681	24	5	26314	5	MUC16	19	9069909	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	605058	9069909	50059074	59	14950											
FBXL12	54850	broad.mit.edu	37	chr19	9929295	9929296	+	Splice_Site	INS	-	-	G																															ttccagcggtgacagaccctINSgggggaggggacgcgcggtt																										TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9929295_9929296insG	ENST00000247977.4	-	2	328		c.e2-2		AC008752.1_ENST00000401283.1_RNA|SNORA70_ENST00000363367.1_RNA|FBXL12_ENST00000586651.1_Frame_Shift_Ins_p.P65fs|FBXL12_ENST00000592067.1_Splice_Site|FBXL12_ENST00000589626.1_Splice_Site|FBXL12_ENST00000586469.1_Intron|FBXL12_ENST00000586073.1_Splice_Site|FBXL12_ENST00000585379.1_Splice_Site|FBXL12_ENST00000588922.1_Splice_Site	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TGACAGACCCTGGGGGAGGGGA	0.723																																						uc002mme.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.e2-1		Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.				1,4097		0,1,2048						4.4	1			9	6,7974		0,6,3984	no	splice-3	FBXL12	NM_017703.1		0,7,6032	A1A1,A1R,RR		0.0752,0.0244,0.058				7,12071				SO:0001630	splice_region_variant	54850						protein binding	g.chr19:9929295_9929296insG	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.87-2->C	19.37:g.9929300_9929300dupG						FBXL12_uc002mmd.3_5'UTR|FBXL12_uc002mmf.3_Splice_Site|FBXL12_uc002mmg.3_Splice_Site	p.R29_splice	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	329	-			29			F-box.		B3KSJ8|Q9H5K4	Splice_Site	INS	ENST00000247977.4	37	c.87_splice	CCDS12218.1																																																																																				0.723	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	Intron	G	9929296	-	G	9929295	8	5	213	1	0	1	1	0	0	0	1	0	5708	1594	55	0	903	0	FBXL12	19	9929295	Splice_Site	INS	-	TCGA-28-5213-01A-01D-1486-08	859386	9929295	49199688	60	14951											
MATN4	8785	broad.mit.edu	37	chr20	43933304	43933304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgccaacgcgcgtggcGttgggacccacgttcaggcc	7	6	13	15	6	2	0	2	0	0	0	2	1	2	1	3	3	1	2	3	3	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:43933304G>A	ENST00000372754.1	-	2	215	c.207C>T	c.(205-207)aaC>aaT	p.N69N	MATN4_ENST00000353917.5_Silent_p.N69N|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000372756.1_Silent_p.N69N|MATN4_ENST00000342716.4_Silent_p.N69N|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.6_Silent_p.N69N|MATN4_ENST00000537548.1_Silent_p.N69N|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank			O95460	MATN4_HUMAN	matrilin 4	69	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.N69fs*3(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGTGGCGTTGGGACCCA	0.642																																						uc002xnn.2																			1	Deletion - Frameshift(1)	p.N69fs*3(2)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(205-207)aaC>aaT		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							36	34	35					20																	43933304		2202	4298	6500	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933304G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.207C>T	20.37:g.43933304G>A						MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	p.N69N	NM_003833	NP_003824	O95460	MATN4_HUMAN			2	394	-		Myeloproliferative disorder(115;0.0122)	69			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.207C>T																																																																																					0.642	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			A	43933304	G	A	43933304	2	1	213	1	0	0	0	0	0	0	0	1	9336	1136	40	1		1	MATN4	20	43933304	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		43933304	19092216	61	14952											
LAMA5	3911	broad.mit.edu	37	chr20	60897158	60897158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcgcagcgctccccgCtgagccccggggggcagttg	4	6	17	14	4	0	1	0	1	0	0	2	1	1	1	4	4	2	5	4	4	0	1	rs143066016	byFrequency	TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:60897158C>T	ENST00000252999.3	-	48	6479	c.6413G>A	c.(6412-6414)aGc>aAc	p.S2138N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2138	Laminin EGF-like 22. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGCTCCCCGCTGAGCCCCGG	0.701																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6412-6414)aGc>aAc		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						20	21	21					20																	60897158		2182	4281	6463	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60897158C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6413G>A	20.37:g.60897158C>T	ENSP00000252999:p.Ser2138Asn					LAMA5_uc021wfw.1_Missense_Mutation_p.S2138N	p.S2138N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		47	6480	-	Breast(26;1.57e-08)		2138			Laminin EGF-like 22.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6413G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	12.16	1.855386	0.32791	.	.	ENSG00000130702	ENST00000252999	T	0.31510	1.49	4.81	2.78	0.32641	EGF-like, laminin (2);EGF-like region, conserved site (1);	0.120859	0.52532	U	0.000064	T	0.24236	0.0587	L	0.46947	1.48	0.80722	D	1	B	0.33413	0.411	B	0.34536	0.185	T	0.04678	-1.0934	10	0.46703	T	0.11	.	6.3329	0.21281	0.0:0.5329:0.367:0.1001	.	2138	O15230	LAMA5_HUMAN	N	2138	ENSP00000252999:S2138N	ENSP00000252999:S2138N	S	-	2	0	LAMA5	60330553	0.999000	0.42202	0.460000	0.27093	0.016000	0.09150	4.341000	0.59335	0.960000	0.38005	0.485000	0.47835	AGC		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60897158	C	T	60897158	3	4	213	1	0	0	0	0	1	0	0	0	8609	797	28	3	4806	3	LAMA5	20	60897158	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	16963854	60897158	2128362	62	14953											
ASMT	438	broad.mit.edu	37	chrX	1746630	1746630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacctggagacgtttggcGttcccgctgaagagcttttt	7	13	12	9	3	0	3	0	1	0	2	1	4	1	3	2	2	2	5	2	2	2	5			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:1746630G>A	ENST00000381229.4	+	4	445	c.409G>A	c.(409-411)Gtt>Att	p.V137I	ASMT_ENST00000381233.3_Missense_Mutation_p.V137I|ASMT_ENST00000381241.3_Missense_Mutation_p.V137I			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	137					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GACGTTTGGCGTTCCCGCTGA	0.378																																						uc004cqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(409-411)Gtt>Att		Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.							260	246	251					X																	1746630		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1746630G>A	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.409G>A	X.37:g.1746630G>A	ENSP00000370627:p.Val137Ile					ASMT_uc010ncy.3_Missense_Mutation_p.V137I|ASMT_uc004cqe.3_Missense_Mutation_p.V137I	p.V137I	NM_004043	NP_004034	P46597	HIOM_HUMAN			4	625	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	137					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.409G>A		.	.	.	.	.	.	.	.	.	.	N	0.006	-2.069166	0.00382	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.22945	1.93;1.93;4.46	1.48	-0.458	0.12182	.	0.455464	0.19837	N	0.104955	T	0.07818	0.0196	N	0.05441	-0.05	0.09310	N	1	B;B	0.31227	0.062;0.314	B;B	0.17722	0.011;0.019	T	0.30297	-0.9983	10	0.15952	T	0.53	.	4.2453	0.10669	0.7369:0.0:0.2631:0.0	.	137;137	P46597-2;P46597-3	.;.	I	137	ENSP00000370639:V137I;ENSP00000370627:V137I;ENSP00000370631:V137I	ENSP00000370627:V137I	V	+	1	0	ASMT	1706630	0.016000	0.18221	0.010000	0.14722	0.028000	0.11728	0.376000	0.20535	0.479000	0.27511	0.250000	0.18168	GTT		0.378	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		A	1746630	G	A	1746630	3	1	213	1	0	0	0	0	1	0	0	0	1045	1145	40	1	423	1	ASMT	23	1746630	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		1746630	153523930	63	14954											
NR0B1	190	broad.mit.edu	37	chrX	30327199	30327199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtcgcctcgggcgccttCggtgccgcgtacgtttgctt	2	11	14	14	8	0	0	0	0	0	0	3	0	0	0	3	2	4	3	3	2	1	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:30327199C>T	ENST00000378970.4	-	1	516	c.282G>A	c.(280-282)ccG>ccA	p.P94P	NR0B1_ENST00000453287.1_Silent_p.P94P|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687																																						uc004dcf.4																			1	Substitution - coding silent(1)	p.P94P(2)	lung(1)	central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(280-282)ccG>ccA		Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	Dexamethasone(DB01234)|Tretinoin(DB00755)						27	26	26					X																	30327199		2195	4290	6485	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327199C>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.282G>A	X.37:g.30327199C>T							p.P94P	NM_000475	NP_000466	P51843	NR0B1_HUMAN			0	297	-			94			4 X 67 AA tandem repeats.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.282G>A	CCDS14223.1																																																																																				0.687	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		T	30327199	C	T	30327199	2	4	213	1	0	0	0	0	0	0	0	1	10613	871	31	2		2	NR0B1	23	30327199	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	28580569	30327199	124943361	64	14955											
KIAA2022	340533	broad.mit.edu	37	chrX	73962950	73962950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgacttttctcttggctCgcagcccatagttctgttgg	5	16	9	11	1	3	1	0	1	3	0	5	1	3	1	1	2	1	4	1	2	1	6			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:73962950C>T	ENST00000055682.6	-	3	2053	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	481					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCTTGGCTCGCAGCCCATA	0.453																																						uc004eby.3																			0		p.R481*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1441-1443)cGa>cAa		Homo sapiens KIAA2022 (KIAA2022), mRNA.							61	51	54					X																	73962950		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962950C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1442G>A	X.37:g.73962950C>T	ENSP00000055682:p.Arg481Gln						p.R481Q	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	2059	-			481					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1442G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370035	0.82573	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.52057	0.68;0.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71097	-0.4691	10	0.87932	D	0	-6.8656	19.4774	0.94994	0.0:1.0:0.0:0.0	.	481	Q5QGS0	K2022_HUMAN	Q	481	ENSP00000362567:R481Q;ENSP00000055682:R481Q	ENSP00000055682:R481Q	R	-	2	0	KIAA2022	73879675	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.487000	0.81328	2.554000	0.86153	0.600000	0.82982	CGA		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73962950	C	T	73962950	3	4	213	1	0	0	0	0	1	0	0	0	8269	884	31	2	3116	2	KIAA2022	23	73962950	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	43635751	73962950	81307610	65	14956											
CPSF3L	54973	broad.mit.edu	37	chr1	1256376	1256376	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcccaagggactcacGtcgtcattgaagcccatgtg	8	9	10	14	2	2	1	2	1	0	0	4	2	3	2	3	1	2	0	3	1	2	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:1256376G>A	ENST00000435064.1	-	2	208	c.126C>T	c.(124-126)gaC>gaT	p.D42D	CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000450926.2_Splice_Site_p.D42D|CPSF3L_ENST00000419704.1_Splice_Site_p.D42D|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Splice_Site_p.D48D|CPSF3L_ENST00000545578.1_Splice_Site_p.D13D	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	42					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.D42E(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGACTCACGTCGTCATTGA	0.647																																						uc001aef.1																			1	Substitution - Missense(1)	p.D42E(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.e4+1		Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.							103	88	93					1																	1256376		2201	4300	6501	SO:0001630	splice_region_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256376G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.126+1C>T	1.37:g.1256376G>A						CPSF3L_uc001aee.1_Splice_Site_p.D42_splice|CPSF3L_uc009vjz.1_Splice_Site_p.D42_splice|CPSF3L_uc010nyj.1_Splice_Site_p.D13_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Splice_Site_p.D42_splice|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_Silent_p.D42D	p.D48_splice			Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	4	657	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	42					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.144_splice	CCDS21.1																																																																																				0.647	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	Silent	A	1256376	G	A	1256376	5	1	214	1	0	0	0	0	0	0	1	0	3827	1159	40	1	1740	1	CPSF3L	1	1256376	Splice_Site	SNP	G	TCGA-28-5214-01A-01D-1486-08		1256376	247994245	1	14957											
NPHP4	261734	broad.mit.edu	37	chr1	5937354	5937354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgtgcttgcaccacgtgTtttcctgcgaaagggtcaga	7	13	11	10	2	2	1	1	0	1	1	3	2	3	1	2	1	3	3	2	1	1	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:5937354T>C	ENST00000378156.4	-	20	2881	c.2616A>G	c.(2614-2616)aaA>aaG	p.K872K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	872					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCACGTGTTTTCCTGCGA	0.632																																						uc001alq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2614-2616)aaA>aaG		Homo sapiens nephronophthisis 4 (NPHP4), mRNA.							24	24	24					1																	5937354		2159	4246	6405	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5937354T>C	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2616A>G	1.37:g.5937354T>C						NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	p.K872K	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	19	2884	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	872					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.2616A>G	CCDS44052.1																																																																																				0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			C	5937354	T	C	5937354	2	2	214	1	0	0	0	0	0	0	0	1	10581	1722	60	4		4	NPHP4	1	5937354	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	4680978	5937354	243313267	2	14958											
MACF1	23499	broad.mit.edu	37	chr1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagctcttgtggctttgCgctggacttgtgccagcatc	5	13	12	11	1	1	1	0	1	1	0	2	2	1	2	1	2	4	4	1	2	0	3	rs573837366		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:39833905C>T	ENST00000372915.3	+	49	12959	c.12872C>T	c.(12871-12873)gCg>gTg	p.A4291V	MACF1_ENST00000564288.1_Missense_Mutation_p.A4286V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453													C|||	1	0.000199681	0	0	5008	,	,		16572	0.001		0	False		,,,				2504	0					uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8176-8178)gCg>gTg		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							119	113	115					1																	39833905		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833905C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12872C>T	1.37:g.39833905C>T	ENSP00000362006:p.Ala4291Val					MACF1_uc021ols.1_Missense_Mutation_p.A2224V|MACF1_uc001cdc.2_Missense_Mutation_p.A2224V|MACF1_uc021olt.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	p.A2726V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	8177	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4291					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8177C>T		.	.	.	.	.	.	.	.	.	.	C	14.65	2.598307	0.46318	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.61392	0.14;0.19;0.14;0.11;0.33;1.25	5.85	5.85	0.93711	.	0.485335	0.18855	N	0.129285	T	0.39682	0.1087	N	0.16478	0.41	0.80722	D	1	P;B;B;B	0.47191	0.891;0.09;0.009;0.005	B;B;B;B	0.37508	0.252;0.036;0.004;0.008	T	0.26643	-1.0097	10	0.22109	T	0.4	.	15.3264	0.74168	0.0:0.9314:0.0:0.0686	.	4291;2224;2224;2189	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	V	2224;4291;2224;2224;2224;2726	ENSP00000439537:A2224V;ENSP00000362006:A4291V;ENSP00000354573:A2224V;ENSP00000313438:A2224V;ENSP00000444364:A2224V;ENSP00000289893:A2726V	ENSP00000289893:A2726V	A	+	2	0	MACF1	39606492	0.361000	0.24972	0.946000	0.38457	0.799000	0.45148	0.880000	0.28159	2.775000	0.95449	0.467000	0.42956	GCG		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39833905	C	T	39833905	3	4	214	1	0	0	0	0	1	0	0	0	9144	768	27	1	13000	1	MACF1	1	39833905	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	33896551	39833905	209416716	3	14959											
CLCA2	9635	broad.mit.edu	37	chr1	86916416	86916416	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccaggttacacagcaaacGgtaagaaccattagcactgt	15	8	8	10	1	0	1	0	0	0	1	0	1	0	1	2	2	6	4	2	2	6	4	rs369722339		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:86916416G>A	ENST00000370565.4	+	12	2317	c.2155G>A	c.(2155-2157)Ggt>Agt	p.G719S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	719					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACAGCAAACGGTAAGAACCA	0.453																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.e12+1		Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.							134	120	125					1																	86916416		2203	4300	6503	SO:0001630	splice_region_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86916416G>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2155+1G>A	1.37:g.86916416G>A							p.G719_splice	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	12	2317	+		Lung NSC(277;0.238)	719					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2155_splice	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934674	0.92458	.	.	ENSG00000137975	ENST00000370565	T	0.03272	3.99	5.35	5.35	0.76521	.	0.128210	0.51477	N	0.000087	T	0.06508	0.0167	M	0.76838	2.35	0.51767	D	0.999932	D	0.65815	0.995	P	0.48189	0.57	T	0.31641	-0.9936	10	0.38643	T	0.18	-10.1054	18.6568	0.91456	0.0:0.0:1.0:0.0	.	719	Q9UQC9	CLCA2_HUMAN	S	719	ENSP00000359596:G719S	ENSP00000359596:G719S	G	+	1	0	CLCA2	86689004	1.000000	0.71417	0.947000	0.38551	0.904000	0.53231	6.097000	0.71452	2.518000	0.84900	0.637000	0.83480	GGT		0.453	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	Missense_Mutation	A	86916416	G	A	86916416	5	1	214	1	0	0	0	0	0	0	1	0	3458	1130	39	2	2201	2	CLCA2	1	86916416	Splice_Site	SNP	G	TCGA-28-5214-01A-01D-1486-08	47082511	86916416	162334205	4	14960											
EPHX4	253152	broad.mit.edu	37	chr1	92528664	92528664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccaacactactactgtggGgagagaatgacgcattcatg	12	9	10	10	1	1	2	1	1	0	1	2	4	2	3	1	2	3	1	1	2	4	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:92528664G>A	ENST00000370383.4	+	7	1008	c.910G>A	c.(910-912)Gga>Aga	p.G304R		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	304						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACTACTGTGGGGAGAGAATGA	0.398																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(910-912)Gga>Aga		Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.							131	134	133					1																	92528664		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92528664G>A	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.910G>A	1.37:g.92528664G>A	ENSP00000359410:p.Gly304Arg						p.G304R	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			6	1014	+			304					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.910G>A	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947571	0.92593	.	.	ENSG00000172031	ENST00000370383	T	0.11712	2.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66184	-0.5987	10	0.87932	D	0	.	19.904	0.97001	0.0:0.0:1.0:0.0	.	304	Q8IUS5	EPHX4_HUMAN	R	304	ENSP00000359410:G304R	ENSP00000359410:G304R	G	+	1	0	EPHX4	92301252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.366000	0.97143	2.698000	0.92095	0.650000	0.86243	GGA		0.398	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		A	92528664	G	A	92528664	3	1	214	1	0	0	0	0	1	0	0	0	5182	1233	43	3	936	3	EPHX4	1	92528664	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	5612248	92528664	156721957	5	14961											
DPYD	1806	broad.mit.edu	37	chr1	98293688	98293688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcattgcttctcggagaGctcctcgctcaccaagagtc	8	10	8	15	2	3	2	2	0	1	2	7	3	4	2	3	1	2	3	3	1	1	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:98293688G>C	ENST00000370192.3	-	3	315	c.215C>G	c.(214-216)gCt>gGt	p.A72G	DPYD_ENST00000423006.2_Missense_Mutation_p.A35G|DPYD_ENST00000306031.5_Missense_Mutation_p.A72G	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	72	4Fe-4S ferredoxin-type 1. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCTCGGAGAGCTCCTCGCTC	0.393																																						uc001drv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(214-216)gCt>gGt		Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	Capecitabine(DB01101)|Enfuvirtide(DB00109)						106	94	98					1																	98293688		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98293688G>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.215C>G	1.37:g.98293688G>C	ENSP00000359211:p.Ala72Gly					DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.A72G	p.A72G	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	2	352	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	72			4Fe-4S ferredoxin-type 1.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.215C>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740687	0.69304	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.85171	-1.95;-1.95;-1.95	5.68	5.68	0.88126	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.116916	0.56097	D	0.000029	D	0.94155	0.8125	M	0.92268	3.29	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.993;0.999	D	0.94699	0.7881	10	0.72032	D	0.01	-18.2445	19.7936	0.96469	0.0:0.0:1.0:0.0	.	72;72	E9PFN1;Q12882	.;DPYD_HUMAN	G	72;35;72	ENSP00000359211:A72G;ENSP00000398884:A35G;ENSP00000307107:A72G	ENSP00000307107:A72G	A	-	2	0	DPYD	98066276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.501000	0.90501	2.677000	0.91161	0.563000	0.77884	GCT		0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		C	98293688	G	C	98293688	3	2	214	1	0	0	0	0	1	0	0	0	4745	971	34	5	2989	5	DPYD	1	98293688	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	5765024	98293688	150956933	6	14962											
FLG	2312	broad.mit.edu	37	chr1	152280977	152280977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccctcttgggatgctgAgtgcctggagctgtcttgtg	4	13	14	10	0	2	2	0	2	2	0	2	4	2	4	2	2	3	2	2	2	0	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152280977A>G	ENST00000368799.1	-	3	6420	c.6385T>C	c.(6385-6387)Tca>Cca	p.S2129P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2129	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATGCTGAGTGCCTGGAG	0.572									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6385-6387)Tca>Cca		Homo sapiens filaggrin (FLG), mRNA.							395	303	334					1																	152280977		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280977A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6385T>C	1.37:g.152280977A>G	ENSP00000357789:p.Ser2129Pro						p.S2129P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6421	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2129			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6385T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	6.100	0.386633	0.11524	.	.	ENSG00000143631	ENST00000368799	T	0.04049	3.72	3.32	-6.64	0.01801	.	.	.	.	.	T	0.01454	0.0047	M	0.80616	2.505	0.09310	N	1	P	0.41041	0.736	B	0.33196	0.159	T	0.02232	-1.1191	9	0.34782	T	0.22	.	3.9548	0.09385	0.1944:0.5302:0.1444:0.131	.	2129	P20930	FILA_HUMAN	P	2129	ENSP00000357789:S2129P	ENSP00000357789:S2129P	S	-	1	0	FLG	150547601	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-2.206000	0.00741	-0.527000	0.04329	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280977	A	G	152280977	3	3	214	1	0	0	0	0	1	0	0	0	5922	304	11	4	5804	4	FLG	1	152280977	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	53987289	152280977	96969644	7	14963											
FLG	2312	broad.mit.edu	37	chr1	152282616	152282616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcttgtcttggacccCgctgattctccctggcccac	3	11	9	18	2	2	1	0	1	2	0	3	2	2	2	5	2	1	2	5	2	0	3	rs201688513		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152282616C>T	ENST00000368799.1	-	3	4781	c.4746G>A	c.(4744-4746)gcG>gcA	p.A1582A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGACCCCGCTGATTCTC	0.602									Ichthyosis				C|||	1	0.000199681	8e-04	0	5008	,	,		18864	0		0	False		,,,				2504	0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4744-4746)gcG>gcA		Homo sapiens filaggrin (FLG), mRNA.							157	169	165					1																	152282616		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282616C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4746G>A	1.37:g.152282616C>T							p.A1582A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4782	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1582			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4746G>A	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152282616	C	T	152282616	2	4	214	1	0	0	0	0	0	0	0	1	5922	639	23	2		2	FLG	1	152282616	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	1639	152282616	96968005	8	14964											
PKP1	5317	broad.mit.edu	37	chr1	201289494	201289494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaactgtgtagcggccagCcgctgtgacgacaaggtgag	10	6	15	10	3	0	3	0	2	0	1	0	4	0	3	2	2	3	2	2	2	3	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:201289494C>T	ENST00000352845.3	+	8	1395	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	PKP1_ENST00000263946.3_Silent_p.S465S|PKP1_ENST00000367324.3_Silent_p.S444S			Q13835	PKP1_HUMAN	plakophilin 1	465					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TAGCGGCCAGCCGCTGTGACG	0.612																																						uc001gwd.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1393-1395)agC>agT		Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.							57	49	51					1																	201289494		2203	4300	6503	SO:0001819	synonymous_variant	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201289494C>T	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1395C>T	1.37:g.201289494C>T						PKP1_uc001gwe.3_Silent_p.S444S|PKP1_uc009wzm.3_Silent_p.S52S	p.S465S	NM_000299	NP_000290	Q13835	PKP1_HUMAN			7	1646	+			465					O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	c.1395C>T	CCDS30966.1																																																																																				0.612	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		T	201289494	C	T	201289494	2	4	214	1	0	0	0	0	0	0	0	1	11984	738	26	3		3	PKP1	1	201289494	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	49006878	201289494	47961127	9	14965											
USH2A	7399	broad.mit.edu	37	chr1	216061963	216061963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctcatggaatgactcctCgggagagtcaccagggtagt	11	8	12	10	1	2	2	2	1	0	1	4	4	3	3	3	3	1	1	3	3	3	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:216061963C>T	ENST00000307340.3	-	41	8414	c.8028G>A	c.(8026-8028)ccG>ccA	p.P2676P	USH2A_ENST00000366943.2_Silent_p.P2676P|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2676	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGACTCCTCGGGAGAGTCA	0.468										HNSCC(13;0.011)																												uc001hku.1																			0		p.L2675V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8026-8028)ccG>ccA		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							86	90	88					1																	216061963		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061963C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8028G>A	1.37:g.216061963C>T		HNSCC(13;0.011)					p.P2676P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	40	8415	-			2676			Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8028G>A	CCDS31025.1																																																																																				0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216061963	C	T	216061963	2	4	214	1	0	0	0	0	0	0	0	1	17033	871	31	2		2	USH2A	1	216061963	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	14772469	216061963	33188658	10	14966											
POLR1A	25885	broad.mit.edu	37	chr2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatacaggaggtttgatgCcggtgaggaacctgccagtg	10	9	14	8	1	0	2	0	2	0	0	0	4	0	4	3	4	5	1	3	4	3	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:86272753C>T	ENST00000263857.6	-	20	3251	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	958					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512																																						uc002sqs.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2872-2874)gGc>gAc		Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.							80	92	88					2																	86272753		1909	4134	6043	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272753C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2873G>A	2.37:g.86272753C>T	ENSP00000263857:p.Gly958Asp					POLR1A_uc010ytb.2_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	p.G958D	NM_015425	NP_056240	O95602	RPA1_HUMAN			19	3252	-			958					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2873G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036329	0.75617	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.94862	-3.54;-3.54	5.71	5.71	0.89125	RNA polymerase Rpb1, domain 5 (1);	0.053139	0.85682	D	0.000000	D	0.98422	0.9475	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99486	1.0949	10	0.87932	D	0	-25.7735	18.0404	0.89317	0.0:1.0:0.0:0.0	.	958	O95602	RPA1_HUMAN	D	958	ENSP00000263857:G958D;ENSP00000386300:G958D	ENSP00000263857:G958D	G	-	2	0	POLR1A	86126264	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.126000	0.77201	2.710000	0.92621	0.655000	0.94253	GGC		0.512	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		T	86272753	C	T	86272753	3	4	214	1	0	0	0	0	1	0	0	0	12209	739	26	3	2349	3	POLR1A	2	86272753	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		86272753	156926620	11	14967											
PCDP1	200373	broad.mit.edu	37	chr2	120385285	120385285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggatgattataccagcCggttctctgtgtcgcccaag	8	11	11	11	2	2	1	1	1	1	0	4	2	2	2	3	2	2	1	3	2	3	3	rs375100921		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:120385285C>T	ENST00000413369.3	+	16	1660	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	PCDP1_ENST00000602047.1_Missense_Mutation_p.R239W|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TTATACCAGCCGGTTCTCTGT	0.537																																						uc002tmb.3																			0											c.(715-717)Cgg>Tgg		Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	109	115	113		715	-0.8	0	2		113	0,8600		0,0,4300	no	missense	PCDP1	NM_001029996.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	239/555	120385285	1,13005	2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120385285C>T																												ENST00000413369.3:c.1573C>T	2.37:g.120385285C>T	ENSP00000393222:p.Arg525Trp					PCDP1_uc010yyq.2_Missense_Mutation_p.R369W	p.R239W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			16	1827	+	Colorectal(110;0.196)		525						Missense_Mutation	SNP	ENST00000413369.3	37	c.715C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921669	0.17982	2.27E-4	0.0	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.32272	1.46	4.18	-0.798	0.10905	.	1.574210	0.03595	N	0.232412	T	0.22126	0.0533	L	0.38175	1.15	0.09310	N	1	B;B	0.19073	0.01;0.033	B;B	0.10450	0.002;0.005	T	0.25779	-1.0122	10	0.56958	D	0.05	1.0638	0.8749	0.01222	0.1639:0.3951:0.1594:0.2816	.	369;525	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	W	239;525	ENSP00000393222:R525W	ENSP00000295220:R239W	R	+	1	2	AC069154.2	120101755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	-0.172000	0.10779	0.655000	0.94253	CGG		0.537	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			T	120385285	C	T	120385285	3	4	214	1	0	0	0	0	1	0	0	0	11572	643	23	2	745	2	PCDP1	2	120385285	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	34112532	120385285	122814088	12	14968											
ZNF142	7701	broad.mit.edu	37	chr2	219503257	219503257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttgtagttgcagaggcgGcaaaagaaggggtggcggtc	9	7	18	7	2	0	2	0	0	0	2	1	2	0	2	1	6	1	4	1	6	4	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:219503257G>A	ENST00000449707.1	-	10	5290	c.4869C>T	c.(4867-4869)tgC>tgT	p.C1623C	ZNF142_ENST00000411696.2_Silent_p.C1623C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGAGGCGGCAAAAGAAGG	0.607																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4867-4869)tgC>tgT		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							62	71	68					2																	219503257		2098	4217	6315	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503257G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4869C>T	2.37:g.219503257G>A						ZNF142_uc002vil.3_Silent_p.C1584C|ZNF142_uc010fvt.3_Silent_p.C1460C|ZNF142_uc002vim.3_Silent_p.C1460C	p.C1623C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5305	-		Renal(207;0.0474)	1623					Q92510	Silent	SNP	ENST00000449707.1	37	c.4869C>T	CCDS42817.1																																																																																				0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		A	219503257	G	A	219503257	2	1	214	1	0	0	0	0	0	0	0	1	17728	1195	42	3		3	ZNF142	2	219503257	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	99117972	219503257	23696116	13	14969											
SCN11A	11280	broad.mit.edu	37	chr3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgactatgtcgaacaCgagaccttgacatttgttct	9	14	9	9	2	1	3	0	2	1	1	2	5	1	3	1	0	1	2	1	0	2	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:38892224C>T	ENST00000302328.3	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1359M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCGAACACGAGACCTTGA	0.308																																						uc021wvy.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4075-4077)Gtg>Atg		Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	Cocaine(DB00907)						116	108	110					3																	38892224		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38892224C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4075G>A	3.37:g.38892224C>T	ENSP00000307599:p.Val1359Met					SCN11A_uc003cis.1_Missense_Mutation_p.V24M	p.V1359M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	24	4274	-			1359					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4075G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	5.739	0.320727	0.10845	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96554	-4.05;-4.05;-4.03;-3.89	4.98	4.11	0.48088	.	0.188740	0.46758	D	0.000276	D	0.91418	0.7292	M	0.62723	1.935	0.09310	N	0.999999	P	0.39737	0.685	B	0.24541	0.054	D	0.86277	0.1665	10	0.51188	T	0.08	.	2.6874	0.05111	0.1337:0.4982:0.209:0.159	.	1359	Q9UI33	SCNBA_HUMAN	M	1359;1359;1321;1359	ENSP00000307599:V1359M;ENSP00000400945:V1359M;ENSP00000416757:V1321M;ENSP00000408028:V1359M	ENSP00000307599:V1359M	V	-	1	0	SCN11A	38867228	0.000000	0.05858	0.507000	0.27676	0.171000	0.22731	-0.517000	0.06275	1.228000	0.43614	0.655000	0.94253	GTG		0.308	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38892224	C	T	38892224	3	4	214	1	0	0	0	0	1	0	0	0	13913	536	19	1	1308	1	SCN11A	3	38892224	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		38892224	159130206	14	14970											
GPR128	84873	broad.mit.edu	37	chr3	100349573	100349573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttgtgaaaatagtacctAtatgggttttacttttgcca	10	19	7	5	0	0	1	0	1	0	0	0	1	0	1	2	1	3	2	2	1	7	10			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:100349573A>G	ENST00000273352.3	+	3	522	c.254A>G	c.(253-255)tAt>tGt	p.Y85C		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	85					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGTACCTATATGGGTTTT	0.323																																					Pancreas(87;185 1975 7223 18722)	uc003duc.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(253-255)tAt>tGt		Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.							65	67	66					3																	100349573		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100349573A>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.254A>G	3.37:g.100349573A>G	ENSP00000273352:p.Tyr85Cys						p.Y85C	NM_032787	NP_116176	Q96K78	GP128_HUMAN			2	522	+			85					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.254A>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363705	0.41902	.	.	ENSG00000144820	ENST00000273352	T	0.38560	1.13	5.82	-1.24	0.09435	.	1.097320	0.07011	N	0.825048	T	0.40398	0.1115	L	0.57536	1.79	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.30563	-0.9974	10	0.39692	T	0.17	.	0.3882	0.00406	0.4107:0.1463:0.1605:0.2825	.	85	Q96K78	GP128_HUMAN	C	85	ENSP00000273352:Y85C	ENSP00000273352:Y85C	Y	+	2	0	GPR128	101832263	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.527000	0.06200	-0.106000	0.12110	-0.323000	0.08544	TAT		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			G	100349573	A	G	100349573	3	3	214	1	0	0	0	0	1	0	0	0	6641	449	16	4	264	4	GPR128	3	100349573	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	61457349	100349573	97672857	15	14971											
EPHB1	2047	broad.mit.edu	37	chr3	134898744	134898744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaccccttcacttacgAggatcccaacgaagctgtcc	10	9	7	15	2	1	1	1	1	0	0	3	4	3	2	4	1	3	1	4	1	3	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:134898744A>G	ENST00000398015.3	+	10	2172	c.1802A>G	c.(1801-1803)gAg>gGg	p.E601G	EPHB1_ENST00000493838.1_Missense_Mutation_p.E162G	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	601					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTTACGAGGATCCCAAC	0.483																																						uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1801-1803)gAg>gGg		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							216	203	207					3																	134898744		1968	4199	6167	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134898744A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1802A>G	3.37:g.134898744A>G	ENSP00000381097:p.Glu601Gly					EPHB1_uc003equ.3_Missense_Mutation_p.E162G	p.E601G	NM_004441	NP_004432	P54762	EPHB1_HUMAN			9	2177	+			601					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1802A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652010	0.88056	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.24151	1.87;1.87	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.65508	-0.6151	10	0.56958	D	0.05	.	16.1997	0.82060	1.0:0.0:0.0:0.0	.	601	P54762	EPHB1_HUMAN	G	601;162	ENSP00000381097:E601G;ENSP00000419574:E162G	ENSP00000381097:E601G	E	+	2	0	EPHB1	136381434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.240000	0.73641	0.528000	0.53228	GAG		0.483	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		G	134898744	A	G	134898744	3	3	214	1	0	0	0	0	1	0	0	0	5174	304	11	4	1840	4	EPHB1	3	134898744	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	34549171	134898744	63123686	16	14972											
CORIN	10699	broad.mit.edu	37	chr4	47679958	47679958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggacacacttactgaCgctgcagttctcctcatcac	8	11	9	13	1	3	1	2	1	1	0	4	2	3	2	1	2	2	3	1	2	1	2	rs149563697	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:47679958C>T	ENST00000273857.4	-	9	1245	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	CORIN_ENST00000504584.1_Missense_Mutation_p.V379I|CORIN_ENST00000502252.1_Missense_Mutation_p.V349I|CORIN_ENST00000505909.1_Missense_Mutation_p.V379I|CORIN_ENST00000508498.1_Missense_Mutation_p.V277I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	416					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTTACTGACGCTGCAGTTC	0.493													C|||	12	0.00239617	0.0053	0	5008	,	,		20763	0.002		0.003	False		,,,				2504	0					uc003gxm.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1246-1248)Gtc>Atc		Homo sapiens corin, serine peptidase (CORIN), mRNA.		C	ILE/VAL	16,4390	23.3+/-48.9	0,16,2187	143	119	128		1246	0.4	0	4	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CORIN	NM_006587.2	29	0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384	benign	416/1043	47679958	18,12988	2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47679958C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1246G>A	4.37:g.47679958C>T	ENSP00000273857:p.Val416Ile					CORIN_uc011bzf.2_Missense_Mutation_p.V277I|CORIN_uc011bzg.2_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	p.V416I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			8	1339	-			416					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1246G>A	CCDS3477.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	C	9.950	1.219789	0.22373	0.003631	2.33E-4	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.89343	-2.28;-2.28;-2.28;-2.5;-2.28	5.83	0.433	0.16534	.	0.895862	0.09856	N	0.746869	T	0.72495	0.3467	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27140	0.017;0.059;0.169;0.022	B;B;B;B	0.21917	0.009;0.009;0.037;0.012	T	0.59456	-0.7451	10	0.23891	T	0.37	.	4.0723	0.09887	0.2697:0.4438:0.0:0.2865	.	379;379;349;416	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	I	416;277;349;379;379	ENSP00000273857:V416I;ENSP00000425597:V277I;ENSP00000424212:V349I;ENSP00000425401:V379I;ENSP00000423216:V379I	ENSP00000273857:V416I	V	-	1	0	CORIN	47374715	0.000000	0.05858	0.004000	0.12327	0.544000	0.35116	-0.172000	0.09868	0.078000	0.16900	0.591000	0.81541	GTC		0.493	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			T	47679958	C	T	47679958	3	4	214	1	0	0	0	0	1	0	0	0	3752	536	19	1	1938	1	CORIN	4	47679958	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		47679958	143474318	17	14973											
UGT2B15	7366	broad.mit.edu	37	chr4	69536075	69536075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaattttcagaagagaatCttccaaataatttttagtta	16	15	6	4	0	2	3	1	0	1	3	3	5	3	3	1	0	0	1	1	0	7	8			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69536075C>A	ENST00000338206.5	-	1	271	c.262G>T	c.(262-264)Gat>Tat	p.D88Y		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	88					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AGAAGAGAATCTTCCAAATAA	0.294																																						uc021xow.1																			0											c.(262-264)Gat>Tat		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.							75	88	84					4																	69536075		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536075C>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.262G>T	4.37:g.69536075C>A	ENSP00000341045:p.Asp88Tyr						p.D88Y	NM_001076	NP_001067	P54855	UDB15_HUMAN			0	420	-			88					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.262G>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	3.277	-0.147959	0.06627	.	.	ENSG00000196620	ENST00000338206	T	0.60171	0.21	2.79	-3.11	0.05299	.	4.222330	0.01210	U	0.007801	T	0.44829	0.1312	L	0.45051	1.395	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.12293	-1.0553	10	0.46703	T	0.11	.	0.5104	0.00594	0.4141:0.2064:0.1457:0.2338	.	88	P54855	UDB15_HUMAN	Y	88	ENSP00000341045:D88Y	ENSP00000341045:D88Y	D	-	1	0	UGT2B15	69218670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.038000	0.00634	-0.711000	0.04995	-0.497000	0.04613	GAT		0.294	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		A	69536075	C	A	69536075	3	1	214	1	0	0	0	0	1	0	0	0	16955	913	32	5	2971	5	UGT2B15	4	69536075	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	21856117	69536075	121618201	18	14974											
WDFY3	23001	broad.mit.edu	37	chr4	85611704	85611704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctttggaggtgcccatCtcccacacacacacaaccgt	9	11	6	15	1	2	0	0	0	2	0	3	1	2	1	3	2	2	0	3	2	1	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:85611704C>G	ENST00000295888.4	-	61	9725	c.9318G>C	c.(9316-9318)gaG>gaC	p.E3106D	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.E3089D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3106	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTGCCCATCTCCCACACAC	0.517																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9316-9318)gaG>gaC		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							206	174	185					4																	85611704		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611704C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9318G>C	4.37:g.85611704C>G	ENSP00000295888:p.Glu3106Asp						p.E3106D	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9726	-		Hepatocellular(203;0.114)	3106					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9318G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342301	0.41498	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.19105	2.17;2.17	6.02	4.29	0.51040	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	L	0.49256	1.55	0.58432	D	0.999999	B	0.23540	0.087	B	0.20955	0.032	T	0.03887	-1.0995	10	0.09843	T	0.71	.	9.5464	0.39284	0.0:0.7239:0.0:0.2761	.	3106	Q8IZQ1	WDFY3_HUMAN	D	3089;3106	ENSP00000318466:E3089D;ENSP00000295888:E3106D	ENSP00000295888:E3106D	E	-	3	2	WDFY3	85830728	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.226000	0.42963	1.553000	0.49476	-0.145000	0.13849	GAG		0.517	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85611704	C	G	85611704	3	3	214	1	0	0	0	0	1	0	0	0	17267	912	32	5	1294	5	WDFY3	4	85611704	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	16075629	85611704	105542572	19	14975											
FSTL5	56884	broad.mit.edu	37	chr4	162577555	162577555	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggaggtctcagggttccTtgaatggcacagctcagaac	10	9	13	9	0	2	2	2	1	1	1	4	3	3	3	1	4	2	3	1	4	2	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:162577555T>C	ENST00000306100.5	-	7	1255	c.819A>G	c.(817-819)caA>caG	p.Q273Q	FSTL5_ENST00000536695.1_Silent_p.Q272Q|FSTL5_ENST00000427802.2_Silent_p.Q272Q|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.Q272Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	273	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGGGTTCCTTGAATGGCAC	0.388																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(817-819)caA>caG		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							93	88	90					4																	162577555		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162577555T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.819A>G	4.37:g.162577555T>C						FSTL5_uc003iqi.3_Silent_p.Q272Q|FSTL5_uc010iqv.3_Silent_p.Q272Q	p.Q273Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1255	-	all_hematologic(180;0.24)		273			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.819A>G	CCDS3802.1																																																																																				0.388	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		C	162577555	T	C	162577555	2	2	214	1	0	0	0	0	0	0	0	1	6080	1606	56	4		4	FSTL5	4	162577555	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	76965851	162577555	28576721	20	14976											
CDH9	1007	broad.mit.edu	37	chr5	26988213	26988213	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatacaaaaattcttacCttgcctacatattgtgtgtc	11	16	4	10	0	2	0	1	0	2	0	4	0	2	0	2	0	4	0	2	0	6	7			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:26988213C>G	ENST00000231021.4	-	2	400	c.228G>C	c.(226-228)aaG>aaC	p.K76N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTCTTACCTTGCCTACAT	0.348																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.e2+1		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							62	60	61					5																	26988213		2203	4300	6503	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988213C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.228+1G>C	5.37:g.26988213C>G						CDH9_uc010iug.3_Splice_Site_p.K76_splice	p.K76_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	397	-			76			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.228_splice	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750032	0.69533	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.52526	0.66;0.66;1.22	5.64	5.64	0.86602	Cadherin (2);Cadherin-like (1);	0.049791	0.85682	D	0.000000	T	0.76140	0.3946	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.81914	0.995;0.97	T	0.81113	-0.1080	9	.	.	.	.	18.2526	0.90009	0.0:1.0:0.0:0.0	.	76;76	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	76	ENSP00000231021:K76N;ENSP00000426239:K76N;ENSP00000422538:K76N	.	K	-	3	2	CDH9	27023970	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.447000	0.80620	2.652000	0.90054	0.591000	0.81541	AAG		0.348	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Missense_Mutation	G	26988213	C	G	26988213	5	3	214	1	0	0	0	0	0	0	1	0	3117	695	24	5	2185	5	CDH9	5	26988213	Splice_Site	SNP	C	TCGA-28-5214-01A-01D-1486-08		26988213	153927047	21	14977											
C5orf48	389320	broad.mit.edu	37	chr5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgccatggggaagatcGtaaagttgtcttccaaaaag	12	11	11	7	1	1	1	0	0	1	1	3	2	2	2	2	2	1	3	2	2	5	4	rs186319310		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:125971812G>A	ENST00000357147.3	+	3	297	c.284G>A	c.(283-285)cGt>cAt	p.R95H		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		95										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						GGGGAAGATCGTAAAGTTGTC	0.443													G|||	1	0.000199681	0	0	5008	,	,		16693	0		0.001	False		,,,				2504	0					uc003kub.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(283-285)cGt>cAt		Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.							128	133	132					5																	125971812		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125971812G>A																												ENST00000357147.3:c.284G>A	5.37:g.125971812G>A	ENSP00000349669:p.Arg95His						p.R95H	NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN			2	297	+			95						Missense_Mutation	SNP	ENST00000357147.3	37	c.284G>A	CCDS4139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.772	0.326805	0.10900	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	3.43	0.39272	.	0.000000	0.51477	D	0.000087	T	0.33352	0.0860	L	0.29908	0.895	0.29355	N	0.865083	B	0.17667	0.023	B	0.14578	0.011	T	0.28396	-1.0045	9	0.54805	T	0.06	-20.3407	8.556	0.33480	0.1862:0.0:0.8138:0.0	.	95	Q6ZNM6	CE048_HUMAN	H	95	.	ENSP00000349669:R95H	R	+	2	0	C5orf48	125999711	0.576000	0.26700	0.702000	0.30337	0.075000	0.17131	2.531000	0.45650	1.144000	0.42321	-0.448000	0.05591	CGT		0.443	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			A	125971812	G	A	125971812	3	1	214	1	0	0	0	0	1	0	0	0	2306	1145	40	1	294	1	C5orf48	5	125971812	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	98983599	125971812	54943448	22	14978											
IK	3550	broad.mit.edu	37	chr5	140033536	140033536	+	Frame_Shift_Del	DEL	G	G	-																															tatacagggacaaatcagctGcagagaagagaagacagttg																										TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140033536delG	ENST00000417647.2	+	6	557	c.418delG	c.(418-420)gcafs	p.A140fs		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	140					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCAGCTGCAGAGAAGAG	0.478																																						uc003lgq.3																			0				large_intestine(1)	1						c.(418-420)gcafs		Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.							87	81	83					5																	140033536		1907	4130	6037	SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140033536delG	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.418delG	5.37:g.140033536delG	ENSP00000396301:p.Ala140fs					IK_uc011czk.1_Frame_Shift_Del_p.A140fs|IK_uc021yen.1_Frame_Shift_Del_p.A81fs	p.A140fs	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	528	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	140					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.418delG	CCDS47280.1																																																																																				0.478	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		-	140033536	G	-	140033536	7	5	214	1	0	1	0	1	0	0	0	0	7608	1319	46	0	440	0	IK	5	140033536	Frame_Shift_Del	DEL	G	TCGA-28-5214-01A-01D-1486-08	14061724	140033536	40881724	23	14979											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctcccggaaaacaacGccagaggtacttccatcttc	11	9	6	15	2	2	1	0	0	2	1	5	2	4	2	4	2	4	1	4	2	5	4	rs370966293		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140783915G>A	ENST00000573521.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACAACGCCAGAGGTAC	0.468																																						uc003lkh.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1396-1398)Gcc>Acc		Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.							82	81	82					5																	140783915		1945	4165	6110	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783915G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1396G>A	5.37:g.140783915G>A	ENSP00000460274:p.Ala466Thr					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.A466T	p.A466T	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1396	+			468			Cadherin 5.		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1396G>A	CCDS58981.1																																																																																				0.468	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		A	140783915	G	A	140783915	3	1	214	1	0	0	0	0	1	0	0	0	11561	1087	38	1	1398	1	PCDHGA9	5	140783915	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	750379	140783915	40131345	24	14980											
GRIA1	2890	broad.mit.edu	37	chr5	153149798	153149798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccatcagtttttgtgcGgaccacagaggaggggatga	11	8	15	7	1	1	3	1	1	0	2	1	6	1	6	2	4	2	1	2	4	0	2	rs531706550		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:153149798G>A	ENST00000285900.5	+	13	2436	c.2093G>A	c.(2092-2094)cGg>cAg	p.R698Q	GRIA1_ENST00000521843.2_Missense_Mutation_p.R629Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R618Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R708Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R708Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R698Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	698					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTTTTTGTGCGGACCACAGAG	0.468																																						uc011dcy.2																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2122-2124)cGg>cAg		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						140	129	133					5																	153149798		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149798G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2093G>A	5.37:g.153149798G>A	ENSP00000285900:p.Arg698Gln					GRIA1_uc003lva.4_Missense_Mutation_p.R698Q|GRIA1_uc003luy.4_Missense_Mutation_p.R698Q|GRIA1_uc003luz.4_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.2_Missense_Mutation_p.R629Q|GRIA1_uc011dcz.2_Missense_Mutation_p.R708Q	p.R708Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2150	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	698					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2123G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802618	0.50315	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.104565	0.64402	D	0.000004	T	0.21631	0.0521	N	0.10707	0.03	0.41453	D	0.987995	P;P;B;P;B	0.43662	0.814;0.814;0.007;0.579;0.041	B;B;B;B;B	0.40659	0.336;0.336;0.007;0.151;0.029	T	0.08911	-1.0699	10	0.72032	D	0.01	.	11.6186	0.51104	0.081:0.0:0.919:0.0	.	708;708;618;698;698	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	698;698;618;652;698;631;629;708;708	ENSP00000285900:R698Q;ENSP00000427920:R618Q;ENSP00000339343:R698Q;ENSP00000427864:R631Q;ENSP00000442108:R629Q;ENSP00000428994:R708Q;ENSP00000415569:R708Q	ENSP00000285900:R698Q	R	+	2	0	GRIA1	153129991	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	2.963000	0.49184	2.525000	0.85131	0.655000	0.94253	CGG		0.468	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			A	153149798	G	A	153149798	3	1	214	1	0	0	0	0	1	0	0	0	6767	1116	39	2	2143	2	GRIA1	5	153149798	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	12365883	153149798	27765462	25	14981											
RNF130	55819	broad.mit.edu	37	chr5	179393829	179393829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttactgcaatgttgatttctCctgttctcggagtgagctcc	6	16	9	10	1	2	2	0	2	2	0	5	3	3	3	2	1	3	4	2	1	2	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:179393829C>T	ENST00000261947.4	-	7	1525	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	RNF130_ENST00000521389.1_Missense_Mutation_p.G376E|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Missense_Mutation_p.G376E	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGATTTCTCCTGTTCTCGG	0.587																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1126-1128)gGa>gAa		Homo sapiens ring finger protein 130 (RNF130), mRNA.							95	88	91					5																	179393829		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179393829C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.1127G>A	5.37:g.179393829C>T	ENSP00000261947:p.Gly376Glu					RNF130_uc003mlm.1_Missense_Mutation_p.G376E	p.G376E	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1534	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	376						Missense_Mutation	SNP	ENST00000261947.4	37	c.1127G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.165868	0.78339	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.06933	3.4;3.38;3.24	5.26	5.26	0.73747	.	0.171965	0.51477	D	0.000088	T	0.18215	0.0437	L	0.29908	0.895	0.58432	D	0.999999	B;D	0.89917	0.287;1.0	B;D	0.71656	0.057;0.974	T	0.09751	-1.0660	10	0.21014	T	0.42	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	393;376	Q59EL1;Q86XS8	.;GOLI_HUMAN	E	376	ENSP00000429509:G376E;ENSP00000430237:G376E;ENSP00000261947:G376E	ENSP00000261947:G376E	G	-	2	0	RNF130	179326435	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.171000	0.71926	2.435000	0.82474	0.491000	0.48974	GGA		0.587	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		T	179393829	C	T	179393829	3	4	214	1	0	0	0	0	1	0	0	0	13438	855	30	3	144	3	RNF130	5	179393829	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	26244031	179393829	1521431	26	14982											
HIVEP1	3096	broad.mit.edu	37	chr6	12123451	12123451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatccagcacaccaactcCctgagcaggcccaactcatt	11	7	6	17	0	2	1	2	1	0	0	4	1	4	1	4	1	4	2	4	1	2	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:12123451C>T	ENST00000379388.2	+	4	3755	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1141					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACACCAACTCCCTGAGCAGGC	0.507																																						uc003nac.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3421-3423)tcC>tcT		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							63	65	64					6																	12123451		1988	4151	6139	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123451C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3423C>T	6.37:g.12123451C>T						HIVEP1_uc011diq.2_Non-coding_Transcript	p.S1141S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			3	3602	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1141					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3423C>T	CCDS43426.1																																																																																				0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		T	12123451	C	T	12123451	2	4	214	1	0	0	0	0	0	0	0	1	7186	610	22	3		3	HIVEP1	6	12123451	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		12123451	158991616	27	14983											
PGK2	5232	broad.mit.edu	37	chr6	49754388	49754388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccatggaactatgagcGcggtgtgcagtgccaaaagc	11	6	12	12	2	0	1	0	1	0	0	0	2	0	2	3	2	5	1	3	2	4	1	rs147140024	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:49754388G>A	ENST00000304801.3	-	1	665	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	171					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACTATGAGCGCGGTGTGCAG	0.458																																						uc003ozu.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(511-513)cgC>cgT		Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	92	91	91		513	-2.1	0.9	6	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PGK2	NM_138733.4		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		171/418	49754388	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754388G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.513C>T	6.37:g.49754388G>A							p.R171R	NM_138733	NP_620061	P07205	PGK2_HUMAN			0	666	-	Lung NSC(77;0.0402)		171					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.513C>T	CCDS4930.1																																																																																				0.458	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			A	49754388	G	A	49754388	2	1	214	1	0	0	0	0	0	0	0	1	11791	1074	38	1		1	PGK2	6	49754388	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	37630937	49754388	121360679	28	14984											
INHBA	3624	broad.mit.edu	37	chr7	41729925	41729925	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagagcaacagttcacTcctctccccctttaagccca	10	10	5	16	0	3	1	2	0	1	1	5	2	4	1	4	0	3	2	4	0	2	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:41729925T>A	ENST00000242208.4	-	3	850	c.604A>T	c.(604-606)Agt>Tgt	p.S202C	INHBA_ENST00000442711.1_Missense_Mutation_p.S202C|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	202					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AACAGTTCACTCCTCTCCCCC	0.582										TSP Lung(11;0.080)																												uc003thq.3																			0		p.R201S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(604-606)Agt>Tgt		Homo sapiens inhibin, beta A (INHBA), mRNA.							83	75	78					7																	41729925		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729925T>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.604A>T	7.37:g.41729925T>A	ENSP00000242208:p.Ser202Cys	TSP Lung(11;0.080)				INHBA_uc003thr.3_Missense_Mutation_p.S202C	p.S202C	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	839	-			202					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.604A>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.123953	0.77436	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.67698	-0.28;-0.28	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.436137	0.30704	N	0.009041	T	0.66336	0.2779	L	0.40543	1.245	0.39980	D	0.974903	P	0.51147	0.942	P	0.51016	0.656	T	0.69624	-0.5095	10	0.51188	T	0.08	-7.2477	11.6151	0.51086	0.0:0.0686:0.0:0.9314	.	202	P08476	INHBA_HUMAN	C	202	ENSP00000242208:S202C;ENSP00000397197:S202C	ENSP00000242208:S202C	S	-	1	0	INHBA	41696450	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.058000	0.49939	2.324000	0.78689	0.533000	0.62120	AGT		0.582	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			A	41729925	T	A	41729925	3	1	214	1	0	0	0	0	1	0	0	0	7741	1551	54	5	680	5	INHBA	7	41729925	Missense_Mutation	SNP	T	TCGA-28-5214-01A-01D-1486-08		41729925	117408738	29	14985											
TMEM120A	5447	broad.mit.edu	37	chr7	75617603	75617603	+	IGR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggatgctctcccggAtggtcagggtgcagtagtac	8	10	15	8	1	2	2	1	2	1	0	3	4	2	4	1	4	3	4	1	4	2	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:75617603A>C	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GCTCTCCCGGATGGTCAGGGT	0.652																																						uc003ued.3																			0											c.(526-528)aTc>aGc		Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.							57	59	58					7																	75617603		1997	4158	6155	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75617603A>C	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617603A>C						TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Missense_Mutation_p.I81S|TMEM120A_uc022agl.1_Missense_Mutation_p.I81S	p.I176S	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN			6	631	-			177					Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.527T>G	CCDS5579.1																																																																																				0.652	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		C	75617603	A	C	75617603	1	2	214	0	1	0	0	0	0	0	0	0	16030	333	12	5		5	TMEM120A	7	75617603	IGR	SNP	A	TCGA-28-5214-01A-01D-1486-08	33887678	75617603	83521060	30	14986											
SMURF1	57154	broad.mit.edu	37	chr7	98636012	98636012	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacaggtggcattaccGgacgtattctttcttattct	7	14	8	12	3	3	0	0	0	3	0	3	2	3	1	3	3	1	2	3	3	3	6			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:98636012G>A	ENST00000361125.1	-	15	2084	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Splice_Site_p.R563W	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	589	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCATTACCGGACGTATTCT	0.577																																						uc003upu.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.e15+1		Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.							87	73	78					7																	98636012		2203	4300	6503	SO:0001630	splice_region_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98636012G>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1766+1C>T	7.37:g.98636012G>A						SMURF1_uc003upv.2_Splice_Site_p.R563_splice|SMURF1_uc003upt.3_Splice_Site_p.R563_splice	p.R589_splice	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		15	2106	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		589			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1766_splice	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915589	0.52546	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.59638	0.25;0.25	5.5	3.7	0.42460	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.962;0.991;0.966	T	0.79522	-0.1769	10	0.87932	D	0	.	8.2326	0.31608	0.0749:0.0:0.512:0.4131	.	563;589;563	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	W	563;589	ENSP00000355326:R563W;ENSP00000354621:R589W	ENSP00000354621:R589W	R	-	1	2	SMURF1	98473948	1.000000	0.71417	0.998000	0.56505	0.269000	0.26545	3.693000	0.54735	0.812000	0.34326	-0.261000	0.10672	CGG		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	Missense_Mutation	A	98636012	G	A	98636012	5	1	214	1	0	0	0	0	0	0	1	0	14819	1130	39	2	528	2	SMURF1	7	98636012	Splice_Site	SNP	G	TCGA-28-5214-01A-01D-1486-08	23018409	98636012	60502651	31	14987											
PIK3CG	5294	broad.mit.edu	37	chr7	106509059	106509059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgagagtgtgttcacCgtgtccctgtgggactgcga	7	9	14	11	3	1	1	1	0	0	1	2	5	2	2	3	1	1	1	3	1	0	1	rs550240865		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:106509059C>T	ENST00000359195.3	+	2	1363	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	PIK3CG_ENST00000440650.2_Silent_p.T351T|PIK3CG_ENST00000496166.1_Silent_p.T351T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	351					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGTGTTCACCGTGTCCCTGT	0.572																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1051-1053)acC>acT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							115	102	107					7																	106509059		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509059C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1053C>T	7.37:g.106509059C>T						PIK3CG_uc003vdu.3_Silent_p.T351T|PIK3CG_uc003vdw.3_Silent_p.T351T	p.T351T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	1138	+			351					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1053C>T	CCDS5739.1																																																																																				0.572	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106509059	C	T	106509059	2	4	214	1	0	0	0	0	0	0	0	1	11916	639	23	2		2	PIK3CG	7	106509059	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	7873047	106509059	52629604	32	14988											
PRSS1	5644	broad.mit.edu	37	chr7	142460295	142460295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagccgactacccagaCgagctgcagtgcctggatgc	9	6	11	15	2	1	1	1	0	0	1	1	4	1	2	3	1	6	2	3	1	1	1	rs146076691		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:142460295C>T	ENST00000311737.7	+	4	474	c.468C>T	c.(466-468)gaC>gaT	p.D156D	PRSS1_ENST00000486171.1_Silent_p.D170D	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	156	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACTACCCAGACGAGCTGCAGT	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		19772	0		0	False		,,,				2504	0					uc003wak.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(466-468)gaC>gaT		Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.		C		2,4404		0,2,2201	280	277	278		468	-5.3	0.6	7	dbSNP_134	278	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRSS1	NM_002769.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		156/248	142460295	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460295C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.468C>T	7.37:g.142460295C>T						TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.D96D	p.D156D	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	485	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	156			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.468C>T	CCDS5872.1																																																																																				0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142460295	C	T	142460295	2	4	214	1	0	0	0	0	0	0	0	1	12614	535	19	1		1	PRSS1	7	142460295	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	35951236	142460295	16678368	33	14989											
TRAPPC9	83696	broad.mit.edu	37	chr8	141310662	141310662	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgttctgacccagcaagctTttcattttgtgtggccggag	7	13	11	10	2	2	1	1	1	1	0	2	2	2	2	2	2	2	3	2	2	1	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr8:141310662T>C	ENST00000438773.2	-	11	1807	c.1674A>G	c.(1672-1674)aaA>aaG	p.K558K	TRAPPC9_ENST00000389328.4_Silent_p.K656K|TRAPPC9_ENST00000389327.3_Silent_p.K549K	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	558					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGCAAGCTTTTCATTTTGT	0.443																																						uc003yvh.2																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1966-1968)aaA>aaG		Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.							209	188	196					8																	141310662		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141310662T>C	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1674A>G	8.37:g.141310662T>C						TRAPPC9_uc003yvj.2_Silent_p.K558K|TRAPPC9_uc003yvi.1_Silent_p.K549K	p.K656K	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN			10	1983	-			558					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1968A>G	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	9.685	1.150339	0.21371	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.93	-3.82	0.04281	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34030	-0.9845	6	0.06099	T	0.92	.	13.9649	0.64202	0.0:0.4247:0.0:0.5753	.	.	.	.	E	402	.	ENSP00000430116:K402E	K	-	1	0	TRAPPC9	141379844	0.996000	0.38824	0.748000	0.31131	0.868000	0.49771	0.253000	0.18296	-1.431000	0.01982	-1.139000	0.01908	AAG		0.443	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		C	141310662	T	C	141310662	2	2	214	1	0	0	0	0	0	0	0	1	16462	1838	64	4		4	TRAPPC9	8	141310662	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08		141310662	5053360	34	14990											
LINGO2	158038	broad.mit.edu	37	chr9	27949565	27949565	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactgcagggtgggctgtcGctgcaagatccagagaaggc	11	6	15	9	1	0	2	0	0	0	2	2	3	1	2	1	3	3	4	1	3	3	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:27949565G>A	ENST00000379992.2	-	6	1554	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	LINGO2_ENST00000308675.3_Nonsense_Mutation_p.R369*	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTGGGCTGTCGCTGCAAGATC	0.547																																						uc003zqv.1																			0		p.R369Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1105-1107)Cga>Tga		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.							39	38	38					9																	27949565		2203	4300	6503	SO:0001587	stop_gained	158038					integral to membrane		g.chr9:27949565G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1105C>T	9.37:g.27949565G>A	ENSP00000369328:p.Arg369*					LINGO2_uc010mjf.1_Nonsense_Mutation_p.R369*|LINGO2_uc003zqu.1_Nonsense_Mutation_p.R369*|LINGO2_uc022bfc.1_Nonsense_Mutation_p.R369*	p.R369*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1755	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	369			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Nonsense_Mutation	SNP	ENST00000379992.2	37	c.1105C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175789	0.94807	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	.	.	.	6.16	3.02	0.34903	.	0.050823	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.318	0.82935	0.0:0.0:0.574:0.4259	.	.	.	.	X	369	.	.	R	-	1	2	LINGO2	27939565	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.675000	0.46875	0.887000	0.36136	-0.188000	0.12872	CGA		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		A	27949565	G	A	27949565	4	1	214	1	0	0	0	0	0	1	0	0	8815	1095	38	1	719	1	LINGO2	9	27949565	Nonsense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		27949565	113263866	35	14991											
KLF9	687	broad.mit.edu	37	chr9	73002796	73002796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcactcctcatgaagcGcttctcacacagcggacagc	9	8	10	14	2	3	1	3	1	1	0	5	2	4	2	1	2	3	1	1	2	1	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:73002796G>A	ENST00000377126.2	-	2	1891	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	211					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTCATGAAGCGCTTCTCACAC	0.592																																						uc004aht.3																			0				endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(631-633)Cgc>Tgc		Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.							85	79	81					9																	73002796		2203	4300	6503	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73002796G>A	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.631C>T	9.37:g.73002796G>A	ENSP00000366330:p.Arg211Cys						p.R211C	NM_001206	NP_001197	Q13886	KLF9_HUMAN			1	1925	-			211					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.631C>T	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792186	0.70452	.	.	ENSG00000119138	ENST00000377126	T	0.36340	1.26	5.47	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.101842	0.35870	N	0.002932	T	0.32941	0.0846	N	0.22421	0.69	0.54753	D	0.999984	D	0.54964	0.969	P	0.49528	0.614	T	0.06625	-1.0816	10	0.44086	T	0.13	.	12.9889	0.58608	0.0:0.0:0.6966:0.3034	.	211	Q13886	KLF9_HUMAN	C	211	ENSP00000366330:R211C	ENSP00000366330:R211C	R	-	1	0	KLF9	72192616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.721000	0.38032	1.223000	0.43536	0.655000	0.94253	CGC		0.592	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		A	73002796	G	A	73002796	3	1	214	1	0	0	0	0	1	0	0	0	8353	1087	38	1	107	1	KLF9	9	73002796	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	45053231	73002796	68210635	36	14992											
EPB41L4B	54566	broad.mit.edu	37	chr9	112015778	112015778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggcttcctctcaaaggTgctggttcttcgtaacctgg	7	13	10	11	1	2	0	1	0	2	0	5	0	3	0	2	4	2	4	2	4	3	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:112015778T>C	ENST00000374566.3	-	12	1739	c.1222A>G	c.(1222-1224)Acc>Gcc	p.T408A	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.T408A	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	408					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCAAAGGTGCTGGTTCTT	0.403																																						uc004bdz.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1222-1224)Acc>Gcc		Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.							172	176	175					9																	112015778		1899	4119	6018	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112015778T>C	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1222A>G	9.37:g.112015778T>C	ENSP00000363694:p.Thr408Ala					EPB41L4B_uc004bea.3_Missense_Mutation_p.T408A	p.T408A	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			11	1517	-			408					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1222A>G	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310364	0.81358	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.85484	-1.99;-1.99	5.26	5.26	0.73747	FERM adjacent (FA) (1);	0.000000	0.41294	D	0.000917	D	0.86368	0.5916	L	0.38838	1.175	0.58432	D	0.999997	B;P	0.41947	0.229;0.766	B;P	0.54499	0.113;0.754	D	0.85111	0.0963	10	0.33940	T	0.23	.	15.4859	0.75569	0.0:0.0:0.0:1.0	.	408;408	Q9H329-2;Q9H329	.;E41LB_HUMAN	A	93;408;408;330	ENSP00000363694:T408A;ENSP00000363685:T408A	ENSP00000262536:T93A	T	-	1	0	EPB41L4B	111055599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.889000	0.69766	2.125000	0.65367	0.533000	0.62120	ACC		0.403	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		C	112015778	T	C	112015778	3	2	214	1	0	0	0	0	1	0	0	0	5156	1696	59	4	1692	4	EPB41L4B	9	112015778	Missense_Mutation	SNP	T	TCGA-28-5214-01A-01D-1486-08	39012982	112015778	29197653	37	14993											
MAP3K11	4296	broad.mit.edu	37	chr11	65367001	65367001	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgagcggggaagggggCggctcggtcgggcagggcgc	6	3	23	9	5	0	2	0	1	0	1	2	3	0	3	0	8	1	2	0	8	1	0	rs138509783		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr11:65367001C>A	ENST00000530153.1	-	9	1820	c.1299G>T	c.(1297-1299)ccG>ccT	p.P433P	MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000309100.3_Silent_p.P690P|MAP3K11_ENST00000532507.1_Silent_p.P106P					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGAAGGGGGCGGCTCGGTCG	0.736																																						uc001oew.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2068-2070)ccG>ccT		Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.							18	24	22					11																	65367001		2158	4254	6412	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65367001C>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1299G>T	11.37:g.65367001C>A						MAP3K11_uc001oev.3_Silent_p.P106P|MAP3K11_uc010rol.2_Silent_p.P433P|MAP3K11_uc001oex.1_Silent_p.P197P	p.P690P	NM_002419	NP_002410	Q16584	M3K11_HUMAN			8	2563	-			690			Pro-rich.			Silent	SNP	ENST00000530153.1	37	c.2070G>T																																																																																					0.736	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			A	65367001	C	A	65367001	2	1	214	1	0	0	0	0	0	0	0	1	9245	755	27	5		5	MAP3K11	11	65367001	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		65367001	69639515	38	14994											
ANKRD33	341405	broad.mit.edu	37	chr12	52284680	52284680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacaaccagcctggccaGtcccttcgtcaccactgcct	7	8	7	19	1	1	0	1	0	0	0	3	0	2	0	7	1	4	0	7	1	1	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:52284680G>C	ENST00000340970.4	+	5	946	c.575G>C	c.(574-576)aGt>aCt	p.S192T	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.S123T|ANKRD33_ENST00000301190.6_Missense_Mutation_p.S317T			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCTGGCCAGTCCCTTCGTC	0.632																																						uc001rzd.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(949-951)aGt>aCt		Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.							58	37	44					12																	52284680		2203	4297	6500	SO:0001583	missense	341405							g.chr12:52284680G>C		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.575G>C	12.37:g.52284680G>C	ENSP00000344690:p.Ser192Thr					ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S192T|ANKRD33_uc001rze.3_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.4_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.4_Missense_Mutation_p.S192T	p.S317T	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	4	1128	+			192					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.950G>C	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435462	0.83885	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.42513	0.97;1.14;2.11	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.76170	2.325	0.45172	D	0.998186	D;D;D	0.76494	0.982;0.998;0.999	D;D;D	0.78314	0.952;0.991;0.982	T	0.66131	-0.6000	10	0.54805	T	0.06	-18.723	14.6392	0.68711	0.0:0.0:1.0:0.0	.	192;123;317	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	T	317;123;192	ENSP00000301190:S317T;ENSP00000443722:S123T;ENSP00000344690:S192T	ENSP00000301190:S317T	S	+	2	0	ANKRD33	50570947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.658000	0.74407	2.493000	0.84123	0.561000	0.74099	AGT		0.632	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		C	52284680	G	C	52284680	3	2	214	1	0	0	0	0	1	0	0	0	661	1029	36	5	998	5	ANKRD33	12	52284680	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		52284680	81567215	39	14995											
PAN2	9924	broad.mit.edu	37	chr12	56717611	56717611	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctggtacttttcacAggtgtcacaccaggcctgtg	6	11	13	11	1	2	0	2	0	0	0	2	0	2	0	2	4	1	2	2	4	1	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:56717611A>T	ENST00000425394.2	-	14	2540	c.2164T>A	c.(2164-2166)Tgt>Agt	p.C722S	PAN2_ENST00000440411.3_Missense_Mutation_p.C718S|PAN2_ENST00000548043.1_Missense_Mutation_p.C722S|PAN2_ENST00000257931.5_Missense_Mutation_p.C721S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TACTTTTCACAGGTGTCACAC	0.522																																						uc001skx.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2164-2166)Tgt>Agt		Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.							87	78	81					12																	56717611		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56717611A>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2164T>A	12.37:g.56717611A>T	ENSP00000401721:p.Cys722Ser					PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.C718S|PAN2_uc001skz.3_Missense_Mutation_p.C721S	p.C722S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			13	2541	-			722						Missense_Mutation	SNP	ENST00000425394.2	37	c.2164T>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084691	0.76642	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.65573	0.833;0.929;0.936	T	0.25916	-1.0118	10	0.62326	D	0.03	-10.9643	14.3243	0.66509	1.0:0.0:0.0:0.0	.	721;718;722	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	722;718;721;722	ENSP00000401721:C722S;ENSP00000388231:C718S;ENSP00000257931:C721S;ENSP00000449861:C722S	ENSP00000257931:C721S	C	-	1	0	PAN2	55003878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.216000	0.95154	2.108000	0.64289	0.523000	0.50628	TGT		0.522	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		T	56717611	A	T	56717611	3	4	214	1	0	0	0	0	1	0	0	0	11414	188	7	5	1496	5	PAN2	12	56717611	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	4432931	56717611	77134284	40	14996											
FGD6	55785	broad.mit.edu	37	chr12	95603097	95603097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctgtggtggtgtctcCgagttggctactcttggacc	3	13	15	10	1	2	0	0	0	2	0	3	2	2	1	3	5	1	2	3	5	1	3	rs199618758		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:95603097C>T	ENST00000343958.4	-	2	2186	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	FGD6_ENST00000549499.1_Missense_Mutation_p.G655R|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.G655R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	655					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGGTGTCTCCGAGTTGGCTA	0.443																																						uc001tdp.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1963-1965)Gga>Aga		Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.							89	92	91					12																	95603097		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603097C>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1963G>A	12.37:g.95603097C>T	ENSP00000344446:p.Gly655Arg					FGD6_uc009zsx.3_Intron	p.G655R	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			1	2187	-			655					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1963G>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872206	0.17322	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.67698	-0.17;-0.28;-0.2	6.04	5.15	0.70609	.	0.286509	0.25247	N	0.032041	T	0.53367	0.1792	L	0.60455	1.87	0.20403	N	0.9999	P	0.52316	0.952	B	0.31547	0.132	T	0.58047	-0.7705	10	0.49607	T	0.09	-8.0152	8.6365	0.33950	0.0:0.7394:0.1256:0.135	.	655	Q6ZV73	FGD6_HUMAN	R	655	ENSP00000344446:G655R;ENSP00000450342:G655R;ENSP00000449005:G655R	ENSP00000344446:G655R	G	-	1	0	FGD6	94127228	0.001000	0.12720	0.221000	0.23827	0.382000	0.30200	0.593000	0.23999	1.568000	0.49683	0.561000	0.74099	GGA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		T	95603097	C	T	95603097	3	4	214	1	0	0	0	0	1	0	0	0	5837	661	23	2	2409	2	FGD6	12	95603097	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	38885486	95603097	38248798	41	14997											
MIPEP	4285	broad.mit.edu	37	chr13	24330744	24330744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatctccctgcgatagcGctccccggcagccctgggga	6	6	12	17	3	1	0	0	0	1	0	3	2	2	1	4	3	4	3	4	3	1	1	rs148780512	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr13:24330744G>A	ENST00000382172.3	-	18	2082	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	662					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGCGATAGCGCTCCCCGGCA	0.517													G|||	3	0.000599042	0	0	5008	,	,		15957	0.003		0	False		,,,				2504	0					uc001uox.4																			0		p.R662H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(1984-1986)Cgc>Tgc		Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	76	77		1984	5.5	1	13	dbSNP_134	77	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MIPEP	NM_005932.3	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	662/714	24330744	5,13001	2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24330744G>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1984C>T	13.37:g.24330744G>A	ENSP00000371607:p.Arg662Cys						p.R662C	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	17	2112	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	662					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.1984C>T	CCDS9303.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	18.18	3.565872	0.65651	2.27E-4	4.65E-4	ENSG00000027001	ENST00000382172	T	0.13778	2.56	5.49	5.49	0.81192	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.74647	2.275	0.80722	D	1	B	0.25312	0.123	B	0.26969	0.075	T	0.01169	-1.1430	10	0.49607	T	0.09	.	13.7483	0.62890	0.0:0.0:0.8455:0.1544	.	662	Q99797	MIPEP_HUMAN	C	662	ENSP00000371607:R662C	ENSP00000371607:R662C	R	-	1	0	MIPEP	23228744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.392000	0.79840	2.574000	0.86865	0.585000	0.79938	CGC		0.517	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			A	24330744	G	A	24330744	3	1	214	1	0	0	0	0	1	0	0	0	9592	1087	38	1	165	1	MIPEP	13	24330744	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		24330744	90839134	42	14998											
FMN1	342184	broad.mit.edu	37	chr15	33359642	33359642	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccatcatcagagtcAgaatcactggtggtgtgcac	10	9	11	11	0	4	2	4	0	0	2	4	2	4	2	2	3	1	1	2	3	1	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:33359642A>G	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Silent_p.S148S|FMN1_ENST00000334528.9_Silent_p.S148S|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATCAGAGTCAGAATCACTGG	0.522																																						uc001zhf.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(442-444)tcT>tcC		Homo sapiens formin 1 (FMN1), mRNA.							75	76	75					15																	33359642		2019	4180	6199	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359642A>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2367T>C	15.37:g.33359642A>G						FMN1_uc001zhg.2_Silent_p.S148S	p.S148S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	0	444	-		all_lung(180;1.14e-07)	0			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.444T>C																																																																																					0.522	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33359642	A	G	33359642	1	3	214	0	1	0	0	0	0	0	0	0	5949	175	7	4		4	FMN1	15	33359642	Intron	SNP	A	TCGA-28-5214-01A-01D-1486-08		33359642	69171750	43	14999											
SPATA5L1	79029	broad.mit.edu	37	chr15	45709546	45709546	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttagatactgctttgttAcgacctggaagattagataa	12	14	10	5	1	0	3	0	0	0	3	0	5	0	4	1	1	3	3	1	1	6	6			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:45709546A>G	ENST00000305560.6	+	6	2016	c.1917A>G	c.(1915-1917)ttA>ttG	p.L639L		NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	639						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGTTACGACCTGGAA	0.393																																						uc001zve.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1915-1917)ttA>ttG		Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.							171	150	157					15																	45709546		2198	4298	6496	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45709546A>G	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1917A>G	15.37:g.45709546A>G						SPATA5L1_uc001zvf.3_Non-coding_Transcript	p.L639L	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	5	2026	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	639					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.1917A>G	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290979	0.23564	.	.	ENSG00000171763	ENST00000531624	.	.	.	5.89	-0.488	0.12056	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-22.4054	5.9214	0.19084	0.3654:0.2714:0.3632:0.0	.	.	.	.	C	144	.	.	Y	+	2	0	SPATA5L1	43496838	1.000000	0.71417	0.796000	0.32109	0.996000	0.88848	1.070000	0.30653	-0.100000	0.12241	0.533000	0.62120	TAC		0.393	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		G	45709546	A	G	45709546	2	3	214	1	0	0	0	0	0	0	0	1	15011	388	14	4		4	SPATA5L1	15	45709546	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08	12349904	45709546	56821846	44	15000											
VPS13C	54832	broad.mit.edu	37	chr15	62182532	62182532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagcaaaactctctggCgcccatccagaaatgatacc	15	7	7	12	1	1	3	0	2	1	1	3	3	2	3	3	1	3	1	3	1	6	1	rs150364963		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:62182532C>T	ENST00000261517.5	-	67	9246	c.9173G>A	c.(9172-9174)cGc>cAc	p.R3058H	VPS13C_ENST00000395896.4_Missense_Mutation_p.R3058H|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3015H|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3015H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTCTCTGGCGCCCATCCAG	0.443																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9172-9174)cGc>cAc		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75	66	69		9173,9044,9044,9173	4.6	1	15	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	3058/3629,3015/3711,3015/3586,3058/3754	62182532	1,13005	2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62182532C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9173G>A	15.37:g.62182532C>T	ENSP00000261517:p.Arg3058His					VPS13C_uc002aha.3_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.2_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.2_Missense_Mutation_p.R3015H	p.R3058H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			66	9264	-			3058						Missense_Mutation	SNP	ENST00000261517.5	37	c.9173G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786755	0.90367	2.27E-4	0.0	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41400	1.0;1.0;1.0	5.5	4.56	0.56223	.	0.111756	0.64402	D	0.000007	T	0.63343	0.2503	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.968;1.0;1.0;0.988	P;D;D;P	0.83275	0.784;0.996;0.992;0.702	T	0.64888	-0.6301	10	0.44086	T	0.13	.	15.4381	0.75162	0.1401:0.8599:0.0:0.0	.	3015;3058;3015;3058	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	H	3015;3058;3058;3058	ENSP00000249837:R3015H;ENSP00000261517:R3058H;ENSP00000379233:R3058H	ENSP00000249837:R3015H	R	-	2	0	VPS13C	59969824	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.291000	0.78721	1.267000	0.44247	0.655000	0.94253	CGC		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		T	62182532	C	T	62182532	3	4	214	1	0	0	0	0	1	0	0	0	17188	768	27	1	2192	1	VPS13C	15	62182532	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	16472986	62182532	40348860	45	15001											
NR2F2	7026	broad.mit.edu	37	chr15	96877739	96877739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctttatggaccacataCggatcttccaagagcaagtg	11	10	9	11	2	1	1	0	0	1	1	3	3	2	3	3	2	2	1	3	2	4	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:96877739C>T	ENST00000394166.3	+	2	2266	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000394171.2_Missense_Mutation_p.R140W|NR2F2_ENST00000453270.2_Missense_Mutation_p.R140W|NR2F2_ENST00000421109.2_Missense_Mutation_p.R160W	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	293	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGACCACATACGGATCTTCCA	0.627																																						uc010uri.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(877-879)Cgg>Tgg		Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.							32	31	32					15																	96877739		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877739C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.877C>T	15.37:g.96877739C>T	ENSP00000377721:p.Arg293Trp					NR2F2_uc002btp.3_Missense_Mutation_p.R160W|NR2F2_uc010urj.2_Missense_Mutation_p.R140W|NR2F2_uc010urk.2_Missense_Mutation_p.R140W	p.R293W	NM_021005	NP_001138629	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	2101	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		293			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.877C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818676	0.90790	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.128962	0.51477	D	0.000086	D	0.98504	0.9501	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	D	0.99780	1.1027	10	0.87932	D	0	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	293;160	P24468;Q3KQR7	COT2_HUMAN;.	W	160;293;140;140	ENSP00000401674:R160W;ENSP00000377721:R293W;ENSP00000377726:R140W;ENSP00000389853:R140W	ENSP00000377721:R293W	R	+	1	2	NR2F2	94678743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.313000	0.51935	2.376000	0.81061	0.655000	0.94253	CGG		0.627	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			T	96877739	C	T	96877739	3	4	214	1	0	0	0	0	1	0	0	0	10628	527	19	1	930	1	NR2F2	15	96877739	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	34695207	96877739	5653653	46	15002											
FOXN1	8456	broad.mit.edu	37	chr17	26864328	26864328	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggtggctccggggcActgggtgacctgcacctcac	5	7	16	13	1	1	1	1	1	0	0	2	1	2	1	3	6	1	4	3	6	0	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:26864328A>C	ENST00000226247.2	+	8	1850	c.1821A>C	c.(1819-1821)gcA>gcC	p.A607A	FOXN1_ENST00000579795.1_Silent_p.A607A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	607					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCTCCGGGGCACTGGGTGACC	0.687																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1819-1821)gcA>gcC		Homo sapiens forkhead box N1 (FOXN1), mRNA.							34	37	36					17																	26864328		2203	4299	6502	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864328A>C	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1821A>C	17.37:g.26864328A>C						FOXN1_uc002hbj.3_Silent_p.A607A	p.A607A	NM_003593	NP_003584	O15353	FOXN1_HUMAN			8	2019	+	Lung NSC(42;0.00431)		607					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.1821A>C	CCDS11232.1																																																																																				0.687	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			C	26864328	A	C	26864328	2	2	214	1	0	0	0	0	0	0	0	1	6019	146	6	5		5	FOXN1	17	26864328	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08		26864328	54330882	47	15003											
GJC1	10052	broad.mit.edu	37	chr17	42882434	42882434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcccaaaccctaaatgaAgcatctcccaaatgttaagc	14	9	6	12	0	1	1	0	1	1	0	3	1	2	1	3	1	3	2	3	1	6	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:42882434A>G	ENST00000426548.1	-	3	1021	c.752T>C	c.(751-753)cTt>cCt	p.L251P	GJC1_ENST00000330514.4_Missense_Mutation_p.L251P|GJC1_ENST00000590758.1_Missense_Mutation_p.L251P|GJC1_ENST00000592524.1_Missense_Mutation_p.L251P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	251					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCCTAAATGAAGCATCTCCCA	0.413																																						uc002ihj.3																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(751-753)cTt>cCt		Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.							120	119	119					17																	42882434		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882434A>G	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.752T>C	17.37:g.42882434A>G	ENSP00000411528:p.Leu251Pro					GJC1_uc002ihk.3_Missense_Mutation_p.L251P|GJC1_uc002ihl.3_Missense_Mutation_p.L251P|GJC1_uc021tyf.1_Missense_Mutation_p.L251P	p.L251P	NM_005497	NP_005488	P36383	CXG1_HUMAN			1	1263	-		Prostate(33;0.0959)	251					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.752T>C	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665569	0.47677	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.95949	-3.86;-3.86	5.28	5.28	0.74379	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97889	1.0296	10	0.52906	T	0.07	.	14.3844	0.66934	1.0:0.0:0.0:0.0	.	251	P36383	CXG1_HUMAN	P	251	ENSP00000411528:L251P;ENSP00000333193:L251P	ENSP00000333193:L251P	L	-	2	0	GJC1	40237960	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.291000	0.78721	1.995000	0.58328	0.421000	0.28195	CTT		0.413	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		G	42882434	A	G	42882434	3	3	214	1	0	0	0	0	1	0	0	0	6414	72	3	4	442	4	GJC1	17	42882434	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	16018106	42882434	38312776	48	15004											
MC4R	4160	broad.mit.edu	37	chr18	58039563	58039563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaagtgtgcatcccaCggtgggtggagttcaccatg	9	8	15	9	1	1	1	1	0	0	1	2	3	2	2	2	3	1	3	2	3	1	1	rs142837166		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr18:58039563C>T	ENST00000299766.3	-	1	438	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	7					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTGCATCCCACGGTGGGTGGA	0.537																																						uc002lie.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17	GRCh37	CM035774	MC4R	M	rs142837166	c.(19-21)cGt>cAt		Homo sapiens melanocortin 4 receptor (MC4R), mRNA.		C	HIS/ARG	2,4398		0,2,2198	41	41	41		20	-8.6	0	18	dbSNP_134	41	0,8588		0,0,4294	no	missense	MC4R	NM_005912.2	29	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign	7/333	58039563	2,12986	2200	4294	6494	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039563C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.20G>A	18.37:g.58039563C>T	ENSP00000299766:p.Arg7His						p.R7H	NM_005912	NP_005903	P32245	MC4R_HUMAN			0	439	-		Colorectal(73;0.0946)	7					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.20G>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	1.339	-0.594694	0.03771	4.55E-4	0.0	ENSG00000166603	ENST00000299766	T	0.58652	0.32	5.56	-8.62	0.00881	.	1.160630	0.06332	N	0.706420	T	0.34803	0.0910	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.20046	T	0.44	.	9.0616	0.36438	0.0:0.2024:0.5238:0.2738	.	7	P32245	MC4R_HUMAN	H	7	ENSP00000299766:R7H	ENSP00000299766:R7H	R	-	2	0	MC4R	56190543	0.397000	0.25270	0.000000	0.03702	0.694000	0.40290	0.698000	0.25571	-1.204000	0.02648	-0.302000	0.09304	CGT		0.537	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		T	58039563	C	T	58039563	3	4	214	1	0	0	0	0	1	0	0	0	9366	536	19	1	982	1	MC4R	18	58039563	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		58039563	20037685	49	15005											
HDGFRP2	84717	broad.mit.edu	37	chr19	4475292	4475292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacgacatcgcggatggCgccgtgaagcccccacccaa	10	4	11	16	6	0	1	0	1	0	0	2	4	0	2	4	2	1	0	4	2	2	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:4475292C>T	ENST00000301284.4	+	2	157	c.93C>T	c.(91-93)ggC>ggT	p.G31G	HDGFRP2_ENST00000586684.1_Silent_p.G31G	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		31	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCGCGGATGGCGCCGTGAAGC	0.562																																						uc002mao.3																			0											c.(91-93)ggC>ggT		Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.							77	87	83					19																	4475292		1956	4133	6089	SO:0001819	synonymous_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4475292C>T																												ENST00000301284.4:c.93C>T	19.37:g.4475292C>T						HDGFRP2_uc002map.3_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	p.G31G	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			1	186	+			31			PWWP.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Silent	SNP	ENST00000301284.4	37	c.93C>T	CCDS42472.1																																																																																				0.562	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			T	4475292	C	T	4475292	2	4	214	1	0	0	0	0	0	0	0	1	7020	755	27	1		1	HDGFRP2	19	4475292	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		4475292	54653691	50	15006											
ZNF564	163050	broad.mit.edu	37	chr19	12638084	12638084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactgtttacattcatgggGtttctctccagtatgagttc	8	16	8	9	0	2	1	1	1	1	0	5	1	3	1	1	2	1	4	1	2	2	6			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:12638084G>A	ENST00000339282.7	-	4	1034	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CATTCATGGGGTTTCTCTCCA	0.403																																						uc002mty.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(838-840)Ccc>Tcc		Homo sapiens zinc finger protein 564 (ZNF564), mRNA.							55	60	58					19																	12638084		2152	4274	6426	SO:0001583	missense	163050				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12638084G>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.838C>T	19.37:g.12638084G>A	ENSP00000340004:p.Pro280Ser					ZNF709_uc002mtx.4_Intron	p.P280S	NM_144976	NP_659413	Q8N972	ZN709_HUMAN			3	1048	-			335					B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.838C>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773197	0.90108	.	.	ENSG00000249709	ENST00000339282	T	0.23950	1.88	1.96	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42698	0.1214	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	T	0.44081	-0.9351	9	0.66056	D	0.02	.	11.637	0.51209	0.0:0.0:1.0:0.0	.	280	Q8TBZ8	ZN564_HUMAN	S	280	ENSP00000340004:P280S	ENSP00000340004:P280S	P	-	1	0	ZNF564	12499084	1.000000	0.71417	0.184000	0.23157	0.985000	0.73830	4.954000	0.63631	1.420000	0.47138	0.643000	0.83706	CCC		0.403	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		A	12638084	G	A	12638084	3	1	214	1	0	0	0	0	1	0	0	0	17992	1261	44	3	827	3	ZNF564	19	12638084	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	8162792	12638084	46490899	51	15007											
CCDC123	84902	broad.mit.edu	37	chr19	33406291	33406291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacttccactgcgattttgCcatccgagtgtgttttgagt	7	15	10	9	2	0	1	0	1	0	0	2	4	2	1	3	0	3	1	3	0	1	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:33406291C>T	ENST00000305768.5	-	14	1605	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	506					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGCGATTTTGCCATCCGAGTG	0.393																																						uc002nty.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1516-1518)gGc>gAc		Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.							117	106	110					19																	33406291		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33406291C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1517G>A	19.37:g.33406291C>T	ENSP00000306105:p.Gly506Asp					CEP89_uc002ntx.3_Missense_Mutation_p.G259D|CEP89_uc010edg.3_Non-coding_Transcript	p.G506D	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			13	1606	-			506					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1517G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164518	0.01673	.	.	ENSG00000121289	ENST00000305768	D	0.87256	-2.23	5.6	1.05	0.20165	.	0.583645	0.21341	N	0.076122	T	0.80773	0.4687	L	0.53249	1.67	0.09310	N	0.999997	B;B	0.14805	0.003;0.011	B;B	0.15052	0.012;0.011	T	0.62854	-0.6766	10	0.16420	T	0.52	-0.1895	9.9282	0.41505	0.0:0.6532:0.0:0.3467	.	259;506	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	D	506	ENSP00000306105:G506D	ENSP00000306105:G506D	G	-	2	0	CEP89	38098131	0.045000	0.20229	0.165000	0.22776	0.011000	0.07611	0.235000	0.17948	0.321000	0.23259	0.591000	0.81541	GGC		0.393	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		T	33406291	C	T	33406291	3	4	214	1	0	0	0	0	1	0	0	0	2759	739	26	3	858	3	CCDC123	19	33406291	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	20768207	33406291	25722692	52	15008											
PSG9	5678	broad.mit.edu	37	chr19	43762524	43762524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatactctgccggtgggttaGattccgtgaagcaggacaag	11	9	13	8	2	1	2	0	1	1	1	2	3	2	3	2	3	3	2	2	3	5	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:43762524G>C	ENST00000270077.3	-	5	1169	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	PSG9_ENST00000291752.5_Missense_Mutation_p.S172C|PSG9_ENST00000593948.1_Missense_Mutation_p.S265C|PSG9_ENST00000596730.1_Missense_Mutation_p.S172C|PSG9_ENST00000418820.2_Missense_Mutation_p.S265C|PSG9_ENST00000244293.7_Missense_Mutation_p.S265C|PSG9_ENST00000443718.3_Missense_Mutation_p.S265C	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	358	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGGTGGGTTAGATTCCGTGAA	0.448																																						uc002owd.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1072-1074)tCt>tGt		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							143	172	163					19																	43762524		2142	4280	6422	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43762524G>C	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1073C>G	19.37:g.43762524G>C	ENSP00000270077:p.Ser358Cys					PSG9_uc002owe.4_Missense_Mutation_p.S265C|PSG9_uc010xwm.2_Missense_Mutation_p.S265C|PSG9_uc002owf.4_Missense_Mutation_p.S172C|PSG9_uc002owg.2_Missense_Mutation_p.S265C	p.S358C	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	1172	-		Prostate(69;0.00682)	358			Ig-like C2-type 3.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.1073C>G	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	10.64	1.407258	0.25378	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	1.58	1.58	0.23477	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41442	0.1159	M	0.92317	3.295	0.19945	N	0.999943	B;D;D;D;D;D	0.89917	0.003;0.999;0.999;0.98;1.0;1.0	B;D;D;P;D;D	0.97110	0.038;0.989;0.99;0.77;1.0;1.0	T	0.11060	-1.0603	9	0.87932	D	0	.	6.5369	0.22359	0.0:0.0:1.0:0.0	.	265;214;265;172;358;358	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	C	358;172;265;319;265	ENSP00000270077:S358C;ENSP00000291752:S172C;ENSP00000396753:S265C;ENSP00000244293:S265C	ENSP00000244293:S265C	S	-	2	0	PSG9	48454364	0.536000	0.26378	0.438000	0.26821	0.012000	0.07955	2.047000	0.41269	0.856000	0.35383	0.194000	0.17425	TCT		0.448	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		C	43762524	G	C	43762524	3	2	214	1	0	0	0	0	1	0	0	0	12662	942	33	5	215	5	PSG9	19	43762524	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	10356233	43762524	15366459	53	15009											
SYNGR4	23546	broad.mit.edu	37	chr19	48878966	48878966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctggggagcagcagtgCccaggcagccatcgccttca	7	6	12	16	1	1	0	1	0	0	0	3	1	2	1	5	3	4	3	5	3	0	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:48878966C>T	ENST00000344846.2	+	4	678	c.428C>T	c.(427-429)gCc>gTc	p.A143V	SYNGR4_ENST00000601610.1_Missense_Mutation_p.A94V|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	143	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCAGCAGTGCCCAGGCAGCC	0.612																																						uc002piz.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(427-429)gCc>gTc		Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.							97	88	91					19																	48878966		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48878966C>T	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.428C>T	19.37:g.48878966C>T	ENSP00000344041:p.Ala143Val						p.A143V	NM_012451	NP_036583	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	3	679	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	143			MARVEL.		Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.428C>T	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792415	0.70452	.	.	ENSG00000105467	ENST00000344846	T	0.29142	1.58	4.53	3.49	0.39957	Marvel (1);MARVEL-like domain (1);	0.050308	0.85682	D	0.000000	T	0.36220	0.0959	M	0.62088	1.915	0.49483	D	0.999796	P	0.50617	0.937	P	0.46940	0.532	T	0.24261	-1.0165	10	0.48119	T	0.1	-10.7402	12.1379	0.53982	0.0:0.9134:0.0:0.0866	.	143	O95473	SNG4_HUMAN	V	143	ENSP00000344041:A143V	ENSP00000344041:A143V	A	+	2	0	SYNGR4	53570778	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	5.479000	0.66813	1.261000	0.44149	0.555000	0.69702	GCC		0.612	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			T	48878966	C	T	48878966	3	4	214	1	0	0	0	0	1	0	0	0	15448	739	26	3	438	3	SYNGR4	19	48878966	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	5116442	48878966	10250017	54	15010											
LILRA1	11024	broad.mit.edu	37	chr19	55106242	55106242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccaggagtaccgtctgtaTagagaaaagaaaacagcacc	17	5	9	10	1	1	2	0	0	1	2	1	4	1	3	3	1	3	3	3	1	7	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:55106242T>C	ENST00000251372.3	+	4	365	c.183T>C	c.(181-183)taT>taC	p.Y61Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.Y61Y|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	61	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCGTCTGTATAGAGAAAAGA	0.577																																						uc002qgh.1																			0		p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(181-183)taT>taC		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.							126	120	122					19																	55106242		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106242T>C	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.183T>C	19.37:g.55106242T>C						LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.Y61Y	p.Y61Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	3	365	+			61			Ig-like C2-type 1.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.183T>C	CCDS12901.1																																																																																				0.577	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		C	55106242	T	C	55106242	2	2	214	1	0	0	0	0	0	0	0	1	8784	1413	49	4		4	LILRA1	19	55106242	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	6227276	55106242	4022741	55	15011											
ISM1	140862	broad.mit.edu	37	chr20	13279761	13279761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacttccgctggaaggaCgccagcgggcccaaggagaa	12	3	15	11	3	0	1	0	0	0	1	1	5	1	4	3	5	1	1	3	5	4	1	rs572363345		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:13279761C>T	ENST00000262487.4	+	6	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	350	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18261	0		0	False		,,,				2504	0					uc010gce.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1048-1050)gaC>gaT		Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.							41	47	45					20																	13279761		2144	4237	6381	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13279761C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1050C>T	20.37:g.13279761C>T						TASP1_uc010zri.1_Intron	p.D350D	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			5	1056	+			350			AMOP.		Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.1050C>T	CCDS46579.1																																																																																				0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			T	13279761	C	T	13279761	2	4	214	1	0	0	0	0	0	0	0	1	7860	535	19	1		1	ISM1	20	13279761	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		13279761	49745759	56	15012											
ZBTB46	140685	broad.mit.edu	37	chr20	62421878	62421878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagccctgggccgtgAcgatgtccaggtgcgtgacc	6	8	14	13	3	0	3	0	3	0	0	1	4	1	3	5	2	2	0	5	2	1	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:62421878A>C	ENST00000245663.4	-	2	383	c.233T>G	c.(232-234)gTc>gGc	p.V78G	ZBTB46_ENST00000302995.2_Missense_Mutation_p.V78G|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.V78G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGGGCCGTGACGATGTCCAG	0.612																																						uc002ygv.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(232-234)gTc>gGc		Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.							74	63	67					20																	62421878		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421878A>C	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.233T>G	20.37:g.62421878A>C	ENSP00000245663:p.Val78Gly					ZBTB46_uc002ygu.3_Non-coding_Transcript	p.V78G	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			1	434	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		78			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.233T>G	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060837	0.76074	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.72051	-0.62;-0.62;-0.62	5.62	5.62	0.85841	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86707	0.1933	10	0.87932	D	0	.	14.9925	0.71399	1.0:0.0:0.0:0.0	.	78	Q86UZ6	ZBT46_HUMAN	G	78	ENSP00000245663:V78G;ENSP00000303102:V78G;ENSP00000378536:V78G	ENSP00000245663:V78G	V	-	2	0	ZBTB46	61892322	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.387000	0.79785	2.145000	0.66743	0.533000	0.62120	GTC		0.612	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		C	62421878	A	C	62421878	3	2	214	1	0	0	0	0	1	0	0	0	17544	275	10	5	1552	5	ZBTB46	20	62421878	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	49142117	62421878	603642	57	15013											
CDX4	1046	broad.mit.edu	37	chrX	72667327	72667327	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccctacagtcccccgCgagaagactggagcgtgtat	9	7	11	14	3	1	2	1	0	0	2	2	4	2	3	3	1	2	2	3	1	3	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:72667327C>T	ENST00000373514.2	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	80					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTCCCCCGCGAGAAGACTG	0.607																																						uc011mqk.2																			0		p.P79L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(238-240)Cga>Tga		Homo sapiens caudal type homeobox 4 (CDX4), mRNA.							55	45	49					X																	72667327		2203	4300	6503	SO:0001587	stop_gained	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667327C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.238C>T	X.37:g.72667327C>T	ENSP00000362613:p.Arg80*						p.R80*	NM_005193	NP_005184	O14627	CDX4_HUMAN			0	238	+	Renal(35;0.156)		80					A1A513|Q5JS20	Nonsense_Mutation	SNP	ENST00000373514.2	37	c.238C>T	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	18.97	3.736543	0.69304	.	.	ENSG00000131264	ENST00000373514	.	.	.	2.43	1.51	0.23008	.	0.067166	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9897	6.3502	0.21370	0.5298:0.4702:0.0:0.0	.	.	.	.	X	80	.	ENSP00000362613:R80X	R	+	1	2	CDX4	72584052	0.873000	0.30073	0.960000	0.40013	0.637000	0.38172	0.283000	0.18846	0.419000	0.25927	0.436000	0.28706	CGA		0.607	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		T	72667327	C	T	72667327	4	4	214	1	0	0	0	0	0	1	0	0	3184	760	27	1	240	1	CDX4	23	72667327	Nonsense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		72667327	82603233	58	15014											
ATRX	546	broad.mit.edu	37	chrX	76918965	76918965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcactcacagtcaatttgtgCcgcaaaagcctatgtctgta	11	12	7	11	1	4	0	3	0	1	0	4	0	4	0	2	0	2	2	2	0	5	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:76918965C>T	ENST00000373344.5	-	12	4240	c.4026G>A	c.(4024-4026)cgG>cgA	p.R1342R	ATRX_ENST00000395603.3_Silent_p.R1304R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1342					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAATTTGTGCCGCAAAAGCC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.R1342W(1)|p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4024-4026)cgG>cgA		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						119	98	105					X																	76918965		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918965C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4026G>A	X.37:g.76918965C>T						ATRX_uc004ecq.4_Silent_p.R1304R|ATRX_uc004eco.4_Silent_p.R1127R|ATRX_uc004ecr.2_Silent_p.R1274R	p.R1342R	NM_000489	NP_000480	P46100	ATRX_HUMAN			11	4258	-			1342					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.4026G>A	CCDS14434.1																																																																																				0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76918965	C	T	76918965	2	4	214	1	0	0	0	0	0	0	0	1	1208	726	26	3		3	ATRX	23	76918965	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	4251638	76918965	78351595	59	15015											
MAGEA8	4107	broad.mit.edu	37	chrX	149013838	149013838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggagtaccgccaggcGcccggcagtgatcctgtgcg	6	7	14	14	4	0	1	0	1	0	0	1	2	1	2	5	3	3	2	5	3	2	2	rs376840959		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:149013838G>A	ENST00000542674.1	+	3	1313	c.792G>A	c.(790-792)gcG>gcA	p.A264A	MAGEA8_ENST00000535454.1_Silent_p.A264A|MAGEA8_ENST00000286482.1_Silent_p.A264A	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCAGGCGCCCGGCAGTG	0.582																																						uc022cgq.1																			1	Substitution - coding silent(1)	p.A264A(2)	breast(1)	NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(790-792)gcG>gcA		Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.		G	,,	0,3835		0,0,1632,571	108	103	105		792,792,792	1	0.1	X		105	1,6725		0,1,2427,1870	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGEA8	NM_001166400.1,NM_001166401.1,NM_005364.4	,,	0,1,4059,2441	AA,AG,GG,G		0.0149,0.0,0.0095	,,	264/319,264/319,264/319	149013838	1,10560	2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013838G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.792G>A	X.37:g.149013838G>A						MAGEA8_uc022cgo.1_Silent_p.A264A|MAGEA8_uc004fdw.2_Silent_p.A264A|MAGEA8_uc022cgp.1_Silent_p.A264A	p.A264A	NM_005364	NP_005355	P43361	MAGA8_HUMAN			0	792	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE.		Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.792G>A	CCDS14692.1																																																																																				0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		A	149013838	G	A	149013838	2	1	214	1	0	0	0	0	0	0	0	1	9171	1074	38	1		1	MAGEA8	23	149013838	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	72094873	149013838	6256722	60	15016											
UBR4	23352	broad.mit.edu	37	chr1	19451182	19451182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacacatcagcagcatgAccctgggagaagaaaatttg	16	7	9	9	0	2	3	2	1	0	2	2	4	2	3	1	1	3	2	1	1	4	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:19451182A>G	ENST00000375254.3	-	65	9468	c.9441T>C	c.(9439-9441)ggT>ggC	p.G3147G	UBR4_ENST00000375226.2_Silent_p.G3123G|UBR4_ENST00000375267.2_Silent_p.G3147G|UBR4_ENST00000375217.2_Silent_p.G3140G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3147					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCAGCATGACCCTGGGAGA	0.413																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(9439-9441)ggT>ggC		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							122	116	118					1																	19451182		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19451182A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9441T>C	1.37:g.19451182A>G						UBR4_uc001bbk.1_Silent_p.G794G	p.G3147G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	64	9445	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3147					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9441T>C	CCDS189.1																																																																																				0.413	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19451182	A	G	19451182	2	3	215	1	0	0	0	0	0	0	0	1	16901	262	10	4		4	UBR4	1	19451182	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08		19451182	229799439	1	15017											
SFN	2810	broad.mit.edu	37	chr1	27190037	27190037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacctcatcaaggaggccGgggacgccgagagccgggtc	8	3	16	14	4	2	1	2	0	0	1	3	4	2	3	5	5	1	0	5	5	1	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:27190037G>T	ENST00000339276.4	+	1	405	c.334G>T	c.(334-336)Ggg>Tgg	p.G112W		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CAAGGAGGCCGGGGACGCCGA	0.637																																						uc010ofi.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9								Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.							50	59	56					1																	27190037		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190037G>T	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.334G>T	1.37:g.27190037G>T	ENSP00000340989:p.Gly112Trp					BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.G112W				P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	0		-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.413C>A	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420188	0.25552	.	.	ENSG00000175793	ENST00000339276	T	0.43294	0.95	5.96	5.05	0.67936	14-3-3 domain (4);	0.376594	0.29609	N	0.011664	T	0.54902	0.1887	L	0.58101	1.795	0.09310	N	0.999997	D	0.65815	0.995	P	0.62491	0.903	T	0.51156	-0.8741	10	0.87932	D	0	-20.3918	9.5043	0.39037	0.2149:0.0:0.7851:0.0	.	112	P31947	1433S_HUMAN	W	112	ENSP00000340989:G112W	ENSP00000340989:G112W	G	+	1	0	SFN	27062624	0.953000	0.32496	0.093000	0.20910	0.066000	0.16364	2.721000	0.47260	1.522000	0.49001	0.655000	0.94253	GGG		0.637	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		T	27190037	G	T	27190037	3	4	215	1	0	0	0	0	1	0	0	0	14159	1116	39	5	336	5	SFN	1	27190037	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	7738855	27190037	222060584	2	15018											
BCAR3	8412	broad.mit.edu	37	chr1	94032964	94032964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacatgtcggttccttcaAaagtcacagcctggcgctcc	8	9	8	16	2	2	0	2	0	0	0	5	0	4	0	4	2	1	2	4	2	2	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:94032964A>G	ENST00000370244.1	-	13	2459	c.2171T>C	c.(2170-2172)tTt>tCt	p.F724S	BCAR3_ENST00000370247.3_Missense_Mutation_p.F633S|BCAR3_ENST00000370243.1_Missense_Mutation_p.F724S|BCAR3_ENST00000260502.6_Missense_Mutation_p.F724S|BCAR3_ENST00000539242.1_Missense_Mutation_p.F400S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	724	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGTTCCTTCAAAAGTCACAGC	0.502																																						uc001dpz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2170-2172)tTt>tCt		Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.							141	127	132					1																	94032964		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032964A>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2171T>C	1.37:g.94032964A>G	ENSP00000359264:p.Phe724Ser					BCAR3_uc001dqa.3_Missense_Mutation_p.F724S|BCAR3_uc001dqb.3_Missense_Mutation_p.F724S|BCAR3_uc001dpx.4_Missense_Mutation_p.F400S|BCAR3_uc001dpy.3_Missense_Mutation_p.F633S	p.F724S	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	10	2446	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	724			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2171T>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275834	0.59649	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.207947	0.51477	D	0.000081	T	0.17408	0.0418	L	0.50919	1.6	0.58432	D	0.999991	P;P	0.44627	0.505;0.839	B;B	0.39935	0.13;0.314	T	0.02844	-1.1103	10	0.21014	T	0.42	-26.2461	16.2303	0.82332	1.0:0.0:0.0:0.0	.	724;633	O75815;Q5TEW3	BCAR3_HUMAN;.	S	633;724;724;724;400	ENSP00000359267:F633S;ENSP00000260502:F724S;ENSP00000359264:F724S;ENSP00000359263:F724S;ENSP00000441343:F400S	ENSP00000260502:F724S	F	-	2	0	BCAR3	93805552	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.936000	0.75892	2.233000	0.73108	0.533000	0.62120	TTT		0.502	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			G	94032964	A	G	94032964	3	3	215	1	0	0	0	0	1	0	0	0	1349	14	1	4	314	4	BCAR3	1	94032964	Missense_Mutation	SNP	A	TCGA-28-5215-01A-01D-1486-08	66842927	94032964	155217657	3	15019											
IRF6	3664	broad.mit.edu	37	chr1	209961847	209961847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgggtttgaaggatgCggtacagctgcttcagctga	7	12	13	9	1	2	2	1	2	1	0	3	3	2	3	1	3	5	5	1	3	2	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:209961847C>T	ENST00000367021.3	-	9	1494	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.R346H	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	441					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGAAGGATGCGGTACAGCTG	0.557										HNSCC(57;0.16)																												uc001hhq.2																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(1321-1323)cGc>cAc		Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.							93	87	89					1																	209961847		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209961847C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1322G>A	1.37:g.209961847C>T	ENSP00000355988:p.Arg441His	HNSCC(57;0.16)				IRF6_uc010psm.2_Missense_Mutation_p.R346H	p.R441H	NM_006147	NP_001193625	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	8	1626	-			441					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.1322G>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628909	0.46944	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95447	-3.71;-3.71	5.67	5.67	0.87782	SMAD domain-like (1);SMAD/FHA domain (1);	0.139563	0.64402	D	0.000002	D	0.91747	0.7390	L	0.32530	0.975	0.80722	D	1	B	0.28801	0.223	B	0.15870	0.014	D	0.88671	0.3195	10	0.22109	T	0.4	.	19.7848	0.96432	0.0:1.0:0.0:0.0	.	441	O14896	IRF6_HUMAN	H	441;346	ENSP00000355988:R441H;ENSP00000440532:R346H	ENSP00000355988:R441H	R	-	2	0	IRF6	208028470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.679000	0.91253	0.650000	0.86243	CGC		0.557	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		T	209961847	C	T	209961847	3	4	215	1	0	0	0	0	1	0	0	0	7834	768	27	1	85	1	IRF6	1	209961847	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	115928883	209961847	39288774	4	15020											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459661	107459661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtccgcacgcgcgcgCggctccgcagctggcacagc	5	3	14	19	8	0	0	0	0	0	0	2	0	2	0	3	2	3	5	3	2	0	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:107459661C>T	ENST00000409382.3	-	2	1383	c.773G>A	c.(772-774)cGc>cAc	p.R258H	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R258H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R258H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	258					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACGCGCGCGCGGCTCCGCAG	0.736																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(772-774)cGc>cAc		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							5	7	6					2																	107459661		2108	4049	6157	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459661C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.773G>A	2.37:g.107459661C>T	ENSP00000386942:p.Arg258His					ST6GAL2_uc002tdr.3_Missense_Mutation_p.R258H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R258H	p.R258H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	892	-			258					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.773G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119154	0.20877	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.34275	2.37;2.37;1.37	5.07	3.25	0.37280	.	0.117519	0.56097	D	0.000035	T	0.53530	0.1802	M	0.74389	2.26	0.18873	N	0.999988	D;P	0.89917	1.0;0.769	D;B	0.64595	0.927;0.16	T	0.44742	-0.9308	10	0.45353	T	0.12	-24.2452	9.6972	0.40165	0.0:0.781:0.1415:0.0775	.	258;258	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	258	ENSP00000355273:R258H;ENSP00000386942:R258H;ENSP00000387332:R258H	ENSP00000355273:R258H	R	-	2	0	ST6GAL2	106826093	0.807000	0.29009	0.000000	0.03702	0.014000	0.08584	2.843000	0.48238	0.533000	0.28675	-0.305000	0.09177	CGC		0.736	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107459661	C	T	107459661	3	4	215	1	0	0	0	0	1	0	0	0	15221	768	27	1	923	1	ST6GAL2	2	107459661	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		107459661	135739712	5	15021											
PSD4	23550	broad.mit.edu	37	chr2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcctcacgcctctatcGcctggagggcttccggaagt	5	10	12	14	3	2	0	1	0	1	0	4	2	3	2	4	4	0	1	4	4	2	3	rs140435814	byFrequency	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:113950118G>A	ENST00000245796.6	+	6	1985	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_ENST00000441564.3_Missense_Mutation_p.R569H	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	597	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597													g|||	5	0.000998403	0.0038	0	5008	,	,		20179	0		0	False		,,,				2504	0					uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1789-1791)cGc>cAc		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.			HIS/ARG	17,4389	25.3+/-52.1	1,15,2187	97	97	97		1790	-2.9	0.8	2	dbSNP_134	97	0,8600		0,0,4300	yes	missense	PSD4	NM_012455.2	29	1,15,6487	AA,AG,GG		0.0,0.3858,0.1307	benign	597/1057	113950118	17,12989	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113950118G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1790G>A	2.37:g.113950118G>A	ENSP00000245796:p.Arg597His					PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	p.R597H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			5	1973	+			597			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1790G>A	CCDS33276.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	5.103	0.204558	0.09704	0.003858	0.0	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.30981	1.51;1.51	5.55	-2.87	0.05700	SEC7-like (4);	0.685420	0.15168	N	0.276809	T	0.10380	0.0254	N	0.04387	-0.21	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.44375	-0.9332	10	0.02654	T	1	.	11.4513	0.50154	0.5497:0.0:0.4503:0.0	.	255;569;597	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	H	597;569	ENSP00000245796:R597H;ENSP00000413997:R569H	ENSP00000245796:R597H	R	+	2	0	PSD4	113666589	0.030000	0.19436	0.776000	0.31678	0.911000	0.54048	0.236000	0.17967	-0.432000	0.07297	-0.482000	0.04802	CGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		A	113950118	G	A	113950118	3	1	215	1	0	0	0	0	1	0	0	0	12649	1087	38	1	1808	1	PSD4	2	113950118	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	6490457	113950118	129249255	6	15022											
INPP5D	3635	broad.mit.edu	37	chr2	234112804	234112804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaacgcaggggacaCgctgcctcaggaggacctgc	10	3	17	11	2	1	1	1	0	0	1	1	5	1	5	2	6	3	2	2	6	2	0	rs142742228		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:234112804C>T	ENST00000359570.5	+	28	2972	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	INPP5D_ENST00000455936.2_Missense_Mutation_p.T755M|INPP5D_ENST00000450745.1_Missense_Mutation_p.T755M|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1003	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGGGGACACGCTGCCTCAG	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.2																			0				central_nervous_system(1)|ovary(1)	2						c.(2920-2922)aCg>aTg		Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.							17	26	23					2																	234112804		2077	4195	6272	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112804C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2972C>T	2.37:g.234112804C>T	ENSP00000352575:p.Thr991Met					INPP5D_uc010zmp.2_Missense_Mutation_p.T973M	p.T974M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	24	3074	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	1003			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2921C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.49	1.363633	0.24684	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96745	-4.06;-4.1;-4.1;-4.11;-4.11;-4.11	3.89	1.88	0.25563	.	0.712859	0.13845	N	0.358745	D	0.92211	0.7530	.	.	.	0.09310	N	1	P;P	0.49447	0.924;0.876	B;B	0.37780	0.258;0.132	D	0.85834	0.1393	9	0.72032	D	0.01	.	7.3524	0.26700	0.1915:0.6229:0.1855:0.0	.	1002;1003	Q92835-2;Q92835	.;SHIP1_HUMAN	M	991;755;755;624;624;624	ENSP00000352575:T991M;ENSP00000407916:T755M;ENSP00000404610:T755M;ENSP00000400151:T624M;ENSP00000397421:T624M;ENSP00000405338:T624M	ENSP00000352575:T991M	T	+	2	0	INPP5D	233777543	0.001000	0.12720	0.001000	0.08648	0.091000	0.18340	1.380000	0.34351	0.608000	0.30000	-0.463000	0.05309	ACG		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		T	234112804	C	T	234112804	3	4	215	1	0	0	0	0	1	0	0	0	7756	536	19	1	2618	1	INPP5D	2	234112804	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	120162686	234112804	9086569	7	15023											
TRIM71	131405	broad.mit.edu	37	chr3	32933302	32933302	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcgaatcctcgtcttctAattgcatttcctaggtttct	8	17	5	11	2	3	0	0	0	3	0	7	1	5	0	2	1	1	2	2	1	4	6			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:32933302A>G	ENST00000383763.5	+	4	2669	c.2606A>G	c.(2605-2607)tAa>tGa	p.*869*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	0					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTCTTCTAATTGCATTTC	0.488																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2605-2607)tAa>tGa		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							75	80	78					3																	32933302		1987	4150	6137	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933302A>G		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2606A>G	3.37:g.32933302A>G							p.*869*	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			3	2669	+			0						Silent	SNP	ENST00000383763.5	37	c.2606A>G	CCDS43060.1																																																																																				0.488	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		G	32933302	A	G	32933302	2	3	215	1	0	0	0	0	0	0	0	1	16541	369	13	4		4	TRIM71	3	32933302	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08		32933302	165089128	8	15024											
SI	6476	broad.mit.edu	37	chr3	164733001	164733001	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtaagtctttgtttcAtttcctgaaattgctggatc	8	16	10	7	0	2	1	1	1	1	0	4	2	3	2	1	2	1	4	1	2	2	5			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:164733001A>G	ENST00000264382.3	-	33	3971	c.3909T>C	c.(3907-3909)aaT>aaC	p.N1303N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1303	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTTTGTTTCATTTCCTGAAA	0.348										HNSCC(35;0.089)																												uc003fei.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3907-3909)aaT>aaC		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)						85	79	81					3																	164733001		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164733001A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3909T>C	3.37:g.164733001A>G		HNSCC(35;0.089)					p.N1303N	NM_001041	NP_001032	P14410	SUIS_HUMAN			32	3972	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1303			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3909T>C	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		G	164733001	A	G	164733001	2	3	215	1	0	0	0	0	0	0	0	1	14297	214	8	4		4	SI	3	164733001	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08	131799699	164733001	33289429	9	15025											
TRIML2	205860	broad.mit.edu	37	chr4	189012730	189012730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcagtcaaggaaaacgcCaactgtgtccaacttctttt	11	12	7	11	2	2	0	1	0	1	0	4	1	3	1	2	1	3	1	2	1	5	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:189012730C>T	ENST00000512729.1	-	7	1335	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	TRIML2_ENST00000326754.3_Missense_Mutation_p.G346S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAAAACGCCAACTGTGTCC	0.517																																						uc011cle.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(1186-1188)Ggc>Agc		Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.							139	156	150					4																	189012730		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012730C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.961G>A	4.37:g.189012730C>T	ENSP00000422581:p.Gly321Ser					TRIML2_uc003izj.1_Missense_Mutation_p.G149S|TRIML2_uc003izk.1_Missense_Mutation_p.G129S|TRIML2_uc003izl.2_Missense_Mutation_p.G321S	p.G396S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1408	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	321					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1186G>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147459	0.77888	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	D;D	0.82433	-1.61;-1.61	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49916	D	0.000124	D	0.94069	0.8099	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95033	0.8171	10	0.87932	D	0	.	18.0364	0.89305	0.0:1.0:0.0:0.0	.	346;321	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	S	321;346	ENSP00000422581:G321S;ENSP00000317498:G346S	ENSP00000317498:G346S	G	-	1	0	TRIML2	189249724	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	4.827000	0.62723	2.941000	0.99782	0.655000	0.94253	GGC		0.517	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		T	189012730	C	T	189012730	3	4	215	1	0	0	0	0	1	0	0	0	16548	594	21	3	206	3	TRIML2	4	189012730	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		189012730	2141546	10	15026											
ADAMTS6	11174	broad.mit.edu	37	chr5	64520167	64520167	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatatagttctttgacatgGcaacttctctaacttcaatg	12	15	5	9	0	3	1	1	1	2	0	4	1	3	1	0	1	2	2	0	1	6	7	rs143194045		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:64520167G>A								ADAMTS6 (25575 upstream) : ADAMTS6 (72867 downstream)																							CTTTGACATGGCAACTTCTCT	0.408																																						uc003jtp.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(2251-2253)gCc>gTc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.		G	VAL/ALA	0,4406		0,0,2203	173	153	160		2252	5.4	1	5	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS6	NM_197941.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	751/1118	64520167	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64520167G>A																													5.37:g.64520167G>A						ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	p.A751V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	17	3066	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	751			Spacer.			Missense_Mutation	SNP		37	c.2252C>T		.	.	.	.	.	.	.	.	.	.	G	19.24	3.789663	0.70337	0.0	1.16E-4	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.53206	0.63;0.63	5.45	5.45	0.79879	ADAM-TS Spacer 1 (1);	0.266496	0.42682	D	0.000663	T	0.53384	0.1793	L	0.52126	1.63	0.80722	D	1	B;B	0.33964	0.434;0.343	B;B	0.43155	0.41;0.41	T	0.46665	-0.9175	10	0.31617	T	0.26	.	19.2919	0.94103	0.0:0.0:1.0:0.0	.	751;751	D6R9L6;Q9UKP5	.;ATS6_HUMAN	V	751;701;751	ENSP00000370443:A751V;ENSP00000423551:A751V	ENSP00000261306:A701V	A	-	2	0	ADAMTS6	64555923	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.197000	0.72100	2.566000	0.86566	0.305000	0.20034	GCC	0	0.408									A	64520167	G	A	64520167	1	1	215	0	1	0	0	0	0	0	0	0	270	1203	42	3		3	ADAMTS6	5	64520167	IGR	SNP	G	TCGA-28-5215-01A-01D-1486-08		64520167	116395093	11	15027											
PCDHA2	56146	broad.mit.edu	37	chr5	140176553	140176553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccaccgtgttagtgtcGttggtggaaagtggccaggc	7	9	16	9	3	0	0	0	0	0	0	1	1	0	1	3	5	0	2	3	5	2	2	rs369554786		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:140176553G>A	ENST00000526136.1	+	1	2004	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA2_ENST00000520672.2_Silent_p.S668S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S668S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652																																						uc003lhd.2																			2	Substitution - coding silent(2)	p.S668S(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2002-2004)tcG>tcA		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.		G	,,,	1,4405	2.1+/-5.4	0,1,2202	75	75	75		,2004,,2004	-1.7	1	5		75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	,668/949,,668/825	140176553	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140176553G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2004G>A	5.37:g.140176553G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S668S|PCDHAC2_uc011czy.2_Silent_p.S668S	p.S668S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2110	+			679			Cadherin 6.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2004G>A	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140176553	G	A	140176553	2	1	215	1	0	0	0	0	0	0	0	1	11524	1132	40	1		1	PCDHA2	5	140176553	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	75656386	140176553	40738707	12	15028											
TRIM26	7726	broad.mit.edu	37	chr6	30164404	30164404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttctccctgccctcCgtgagctcctgctccagctt	4	13	7	17	1	1	2	0	2	1	0	5	2	4	2	5	0	5	3	5	0	1	3	rs137972961		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:30164404C>T	ENST00000454678.2	-	6	1090	c.654G>A	c.(652-654)acG>acA	p.T218T	TRIM26_ENST00000487829.1_5'Flank|TRIM26_ENST00000453195.1_Silent_p.T218T|TRIM26_ENST00000437089.1_Silent_p.T218T	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	218					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CCCTGCCCTCCGTGAGCTCCT	0.642																																						uc003npr.3																			0				lung(1)|ovary(2)	3						c.(652-654)acG>acA		Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.							42	40	41					6																	30164404		2202	4300	6502	SO:0001819	synonymous_variant	7726						DNA binding|zinc ion binding	g.chr6:30164404C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.654G>A	6.37:g.30164404C>T						TRIM26_uc003nps.3_Silent_p.T218T|TRIM26_uc003npt.3_Silent_p.T218T|TRIM26_uc010jry.3_5'UTR	p.T218T	NM_003449	NP_003440	Q12899	TRI26_HUMAN			4	863	-			218					A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	c.654G>A	CCDS4678.1																																																																																				0.642	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		T	30164404	C	T	30164404	2	4	215	1	0	0	0	0	0	0	0	1	16497	639	23	2		2	TRIM26	6	30164404	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		30164404	140950663	13	15029											
SIM1	6492	broad.mit.edu	37	chr6	100911318	100911318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctccctcctagtccgCgcagcatttttggacttttc	4	16	6	15	2	1	0	0	0	1	0	6	1	4	1	4	1	1	2	4	1	1	6			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:100911318C>T	ENST00000369208.3	-	2	809	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_ENST00000262901.4_Silent_p.A9A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	9	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(25-27)gcG>gcA		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							232	239	237					6																	100911318		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100911318C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.27G>A	6.37:g.100911318C>T						SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	0	494	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	9					Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.27G>A	CCDS5045.1																																																																																				0.423	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100911318	C	T	100911318	2	4	215	1	0	0	0	0	0	0	0	1	14323	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08	70746914	100911318	70203749	14	15030											
FNDC1	84624	broad.mit.edu	37	chr6	159655381	159655381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcacccacccctggccGcagtacaccacgcgcgcccc	6	2	11	22	5	0	0	0	0	0	0	0	0	0	0	7	2	1	3	7	2	1	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:159655381G>A	ENST00000297267.9	+	11	4037	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	FNDC1_ENST00000340366.6_Silent_p.P1216P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1279					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCTGGCCGCAGTACACCA	0.701																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3835-3837)ccG>ccA		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.							14	17	16					6																	159655381		1987	4087	6074	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159655381G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3837G>A	6.37:g.159655381G>A						FNDC1_uc010kjw.1_Silent_p.P1164P	p.P1279P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	4037	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1279					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.3837G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.929	0.172652	0.09391	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.91	-4.39	0.03611	.	.	.	.	.	T	0.06600	0.0169	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-6.0162	3.1724	0.06556	0.3245:0.2604:0.3289:0.0862	.	.	.	.	T	1175	.	.	A	+	1	0	FNDC1	159575371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.063000	0.03465	-1.430000	0.01985	-1.956000	0.00482	GCA		0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159655381	G	A	159655381	2	1	215	1	0	0	0	0	0	0	0	1	5968	1074	38	1		1	FNDC1	6	159655381	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	58744063	159655381	11459686	15	15031											
CHN2	1124	broad.mit.edu	37	chr7	29438049	29438049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggcgtggagggtgcCtacatccttagagaaagcca	10	8	14	9	1	0	1	0	0	0	1	1	4	1	3	3	4	3	0	3	4	3	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:29438049C>T	ENST00000222792.6	+	5	767	c.237C>T	c.(235-237)gcC>gcT	p.A79A	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000546235.1_Silent_p.A64A|CHN2_ENST00000539406.1_Silent_p.A154A|CHN2_ENST00000495789.2_Silent_p.A92A|CHN2_ENST00000435288.2_Silent_p.A79A	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGAGGGTGCCTACATCCTTA	0.522																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(235-237)gcC>gcT		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							153	127	136					7																	29438049		2203	4300	6503	SO:0001819	synonymous_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29438049C>T	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.237C>T	7.37:g.29438049C>T						CHN2_uc011jzs.2_Silent_p.A154A|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.A44A|CHN2_uc011jzt.2_Silent_p.A92A|CHN2_uc010kvd.3_Intron|CHN2_uc011jzu.2_Silent_p.A64A	p.A79A	NM_004067	NP_004058	P52757	CHIO_HUMAN			4	674	+			79			SH2.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	c.237C>T	CCDS5420.1																																																																																				0.522	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		T	29438049	C	T	29438049	2	4	215	1	0	0	0	0	0	0	0	1	3363	668	24	3		3	CHN2	7	29438049	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		29438049	129700614	16	15032											
ASB4	51666	broad.mit.edu	37	chr7	95115358	95115358	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatttccttgaggcgctAaagtccaatgacttcggaaa	14	10	9	8	2	0	3	0	2	0	1	3	4	2	4	2	2	0	1	2	2	5	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:95115358A>G	ENST00000325885.5	+	1	146	c.75A>G	c.(73-75)ctA>ctG	p.L25L	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Silent_p.L25L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	25					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGAGGCGCTAAAGTCCAATG	0.438																																						uc011kij.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(73-75)ctA>ctG		Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.							84	84	84					7																	95115358		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95115358A>G	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.75A>G	7.37:g.95115358A>G						ASB4_uc003unx.3_Silent_p.L25L	p.L25L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		0	146	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		25					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.75A>G	CCDS5641.1																																																																																				0.438	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		G	95115358	A	G	95115358	2	3	215	1	0	0	0	0	0	0	0	1	1025	349	13	4		4	ASB4	7	95115358	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08	65677309	95115358	64023305	17	15033											
ANK1	286	broad.mit.edu	37	chr8	41566469	41566469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggttctgcttggcagCgatgtgcaaaggggtgtagc	7	10	15	9	1	1	0	0	0	1	0	1	1	1	0	1	4	4	5	1	4	2	3	rs564238506		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:41566469C>T	ENST00000347528.4	-	17	1908	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T	ANK1_ENST00000396945.1_Missense_Mutation_p.A609T|ANK1_ENST00000352337.4_Missense_Mutation_p.A609T|ANK1_ENST00000379758.2_Missense_Mutation_p.A609T|ANK1_ENST00000289734.7_Missense_Mutation_p.A609T|ANK1_ENST00000265709.8_Missense_Mutation_p.A642T|ANK1_ENST00000396942.1_Missense_Mutation_p.A609T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	609	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A609T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTTGGCAGCGATGTGCAAA	0.582													C|||	1	0.000199681	0	0	5008	,	,		18718	0		0	False		,,,				2504	0.001					uc003xok.3																			1	Substitution - Missense(1)	p.A609T(2)	central_nervous_system(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1825-1827)Gct>Act		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							65	59	61					8																	41566469		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41566469C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1825G>A	8.37:g.41566469C>T	ENSP00000339620:p.Ala609Thr					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.A609T|ANK1_uc003xoj.3_Missense_Mutation_p.A609T|ANK1_uc003xol.3_Missense_Mutation_p.A609T|ANK1_uc003xom.3_Missense_Mutation_p.A642T	p.A609T	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		16	1909	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	609			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1825G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929995	0.92389	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.51	5.51	0.81932	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.91768	3.24	0.80722	D	1	P;P;D;D;P	0.56035	0.685;0.903;0.974;0.967;0.539	B;B;B;B;B	0.42245	0.36;0.36;0.381;0.263;0.276	D	0.90018	0.4126	10	0.87932	D	0	.	19.4035	0.94640	0.0:1.0:0.0:0.0	.	642;609;609;609;609	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	609;609;609;609;609;609;642;609	ENSP00000339620:A609T;ENSP00000289734:A609T;ENSP00000369082:A609T;ENSP00000380149:A609T;ENSP00000380147:A609T;ENSP00000309131:A609T;ENSP00000265709:A642T	ENSP00000265709:A642T	A	-	1	0	ANK1	41685626	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.790000	0.85794	2.586000	0.87340	0.561000	0.74099	GCT		0.582	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41566469	C	T	41566469	3	4	215	1	0	0	0	0	1	0	0	0	620	768	27	1	4278	1	ANK1	8	41566469	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		41566469	104797553	18	15034											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87162356	87162356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttgaggccgacagaCgtgcttttatcatcactctt	8	15	8	10	2	4	2	3	1	1	1	4	3	4	2	1	1	1	2	1	1	1	5			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:87162356C>T	ENST00000285393.3	+	6	797	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	219					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGCCGACAGACGTGCTTTTAT	0.408																																						uc003ydp.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(655-657)Cgt>Tgt		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.							92	85	87					8																	87162356		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87162356C>T	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.655C>T	8.37:g.87162356C>T	ENSP00000285393:p.Arg219Cys						p.R219C	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			5	724	+			219						Missense_Mutation	SNP	ENST00000285393.3	37	c.655C>T	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911347	0.72983	.	.	ENSG00000147614	ENST00000285393	T	0.36699	1.24	6.17	5.28	0.74379	.	0.111469	0.64402	D	0.000012	T	0.68732	0.3033	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.79708	-0.1690	10	0.87932	D	0	-17.501	15.884	0.79226	0.1364:0.8636:0.0:0.0	.	219	Q8N8Y2	VA0D2_HUMAN	C	219	ENSP00000285393:R219C	ENSP00000285393:R219C	R	+	1	0	ATP6V0D2	87231472	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.377000	0.34317	1.584000	0.49913	0.655000	0.94253	CGT		0.408	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		T	87162356	C	T	87162356	3	4	215	1	0	0	0	0	1	0	0	0	1174	536	19	1	677	1	ATP6V0D2	8	87162356	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	45595887	87162356	59201666	19	15035											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777555	18777555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcccaggagatcttcCgcagccacctggagcaccag	9	5	12	15	1	1	1	0	0	1	1	2	3	2	2	5	3	3	3	5	3	0	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr9:18777555C>T	ENST00000380548.4	+	19	3667	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1110						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGATCTTCCGCAGCCACCT	0.647																																						uc003zne.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3328-3330)Cgc>Tgc		Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.							19	23	21					9																	18777555		2054	4189	6243	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777555C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3328C>T	9.37:g.18777555C>T	ENSP00000369921:p.Arg1110Cys						p.R1110C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	3480	+			1110					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3328C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330105	0.60743	.	.	ENSG00000178031	ENST00000380548	T	0.64260	-0.09	5.88	2.72	0.32119	.	0.063246	0.08080	U	1.000000	T	0.48409	0.1498	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	B	0.44315	0.446	T	0.49485	-0.8935	10	0.87932	D	0	.	9.6655	0.39981	0.326:0.5741:0.0999:0.0	.	1110	Q8N6G6	ATL1_HUMAN	C	1110	ENSP00000369921:R1110C	ENSP00000369921:R1110C	R	+	1	0	ADAMTSL1	18767555	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.486000	0.45259	1.458000	0.47871	0.557000	0.71058	CGC		0.647	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18777555	C	T	18777555	3	4	215	1	0	0	0	0	1	0	0	0	274	652	23	2	3406	2	ADAMTSL1	9	18777555	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		18777555	122435876	20	15036											
CDH23	64072	broad.mit.edu	37	chr10	73375274	73375274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagggaataccaacagCatctttgccctggactacat	11	10	8	12	0	1	0	0	0	1	0	1	2	1	2	2	2	6	2	2	2	4	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:73375274C>G	ENST00000224721.6	+	9	866	c.861C>G	c.(859-861)agC>agG	p.S287R	CDH23_ENST00000398842.3_Missense_Mutation_p.S282R|CDH23_ENST00000461841.3_Missense_Mutation_p.S327R|CDH23_ENST00000299366.7_Missense_Mutation_p.S327R|CDH23_ENST00000398809.4_Missense_Mutation_p.S282R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATACCAACAGCATCTTTGCCC	0.607																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(844-846)agC>agG		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							84	85	85					10																	73375274		2026	4174	6200	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73375274C>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.861C>G	10.37:g.73375274C>G	ENSP00000224721:p.Ser287Arg					CDH23_uc001jrw.4_Missense_Mutation_p.S282R|CDH23_uc001jry.3_Missense_Mutation_p.S282R|CDH23_uc001jrz.3_Missense_Mutation_p.S282R|CDH23_uc021psl.1_Missense_Mutation_p.S282R|CDH23_uc009xql.3_Missense_Mutation_p.S282R	p.S282R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			9	1236	+			282			Cadherin 3.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.846C>G		.	.	.	.	.	.	.	.	.	.	C	11.53	1.667180	0.29604	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.61274	0.12;0.12	4.22	3.31	0.37934	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.31371	0.925	0.80722	D	1	B;D;D	0.69078	0.171;0.993;0.997	B;D;D	0.78314	0.057;0.954;0.991	T	0.53358	-0.8450	10	0.23302	T	0.38	.	9.5218	0.39140	0.0:0.8276:0.0:0.1724	.	282;282;282	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	R	289;282;282;282;282;287;287;199	ENSP00000381789:S282R;ENSP00000381822:S282R	ENSP00000224721:S289R	S	+	3	2	CDH23	73045280	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.381000	0.34362	0.998000	0.38996	0.557000	0.71058	AGC		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		G	73375274	C	G	73375274	3	3	215	1	0	0	0	0	1	0	0	0	3108	709	25	5	880	5	CDH23	10	73375274	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		73375274	62159473	21	15037											
DHX32	55760	broad.mit.edu	37	chr10	127541113	127541113	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtccacagcactaccTgaagaagatgagccaagaat	14	9	9	9	0	0	5	0	2	0	3	1	5	1	5	3	0	3	1	3	0	5	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:127541113T>C	ENST00000284690.3	-	5	1681	c.1191A>G	c.(1189-1191)tcA>tcG	p.S397S	DHX32_ENST00000368721.1_Splice_Site_p.S21S|DHX32_ENST00000284688.6_Splice_Site_p.S316S|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	397						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCACTACCTGAAGAAGATG	0.433																																						uc001ljf.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.e5+1		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.							134	124	127					10																	127541113		2203	4300	6503	SO:0001630	splice_region_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127541113T>C		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1192+1A>G	10.37:g.127541113T>C						BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Splice_Site_p.G22_splice|DHX32_uc001ljg.1_Splice_Site_p.G398_splice|DHX32_uc009yam.1_Splice_Site_p.G153_splice	p.G398_splice	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			5	1683	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	398					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.1192_splice	CCDS7652.1																																																																																				0.433	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	Silent	C	127541113	T	C	127541113	5	2	215	1	0	0	0	0	0	0	1	0	4505	1594	55	4	1068	4	DHX32	10	127541113	Splice_Site	SNP	T	TCGA-28-5215-01A-01D-1486-08	54165839	127541113	7993634	22	15038											
PNPLA2	57104	broad.mit.edu	37	chr11	824015	824015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgctggaggcctgcGtggagcccacggacctgctg	5	6	15	15	2	0	0	0	0	0	0	0	3	0	3	4	4	5	2	4	4	0	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:824015G>A	ENST00000336615.4	+	8	1139	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	313					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGCCTGCGTGGAGCCCAC	0.716																																						uc001lrt.3																			0				breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(937-939)Gtg>Atg		Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.							25	22	23					11																	824015		2191	4294	6485	SO:0001583	missense	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:824015G>A	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"Patatin-like phospholipase domain containing"	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.937G>A	11.37:g.824015G>A	ENSP00000337701:p.Val313Met					PNPLA2_uc009ycl.3_Missense_Mutation_p.R124H|EFCAB4A_uc010qwt.1_5'Flank	p.V313M	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1140	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	313					O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	ENST00000336615.4	37	c.937G>A	CCDS7718.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258580	0.23051	.	.	ENSG00000177666	ENST00000336615	T	0.78481	-1.18	4.18	2.2	0.27929	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.524218	0.19788	N	0.106058	T	0.57359	0.2048	N	0.12182	0.205	0.20307	N	0.999911	B	0.19200	0.034	B	0.12156	0.007	T	0.46456	-0.9190	10	0.41790	T	0.15	-17.7757	7.7524	0.28904	0.2432:0.0:0.7568:0.0	.	313	Q96AD5	PLPL2_HUMAN	M	313	ENSP00000337701:V313M	ENSP00000337701:V313M	V	+	1	0	PNPLA2	814015	0.983000	0.35010	0.990000	0.47175	0.720000	0.41350	1.011000	0.29911	0.192000	0.20272	0.484000	0.47621	GTG		0.716	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		A	824015	G	A	824015	3	1	215	1	0	0	0	0	1	0	0	0	12165	1145	40	1	963	1	PNPLA2	11	824015	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		824015	134182501	23	15039											
OR5D16	390144	broad.mit.edu	37	chr11	55606777	55606777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcttctgtgagttaTcctccctgatatcactctct	7	18	4	12	0	5	2	2	2	3	0	8	2	7	2	2	0	0	1	2	0	2	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:55606777T>C	ENST00000378396.1	+	1	550	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGTGAGTTATCCTCCCTGAT	0.418																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(550-552)Tcc>Ccc		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							190	167	175					11																	55606777		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606777T>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.550T>C	11.37:g.55606777T>C	ENSP00000367649:p.Ser184Pro						p.S184P	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	550	+		all_epithelial(135;0.208)	184					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.550T>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	5.326	0.245508	0.10077	.	.	ENSG00000205029	ENST00000378396	T	0.00026	8.94	4.47	0.329	0.15924	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11131	0.1	0.09310	N	1	B	0.17667	0.023	B	0.26202	0.067	T	0.11817	-1.0572	9	0.02654	T	1	-37.7414	7.1173	0.25424	0.0:0.4255:0.0:0.5745	.	184	Q8NGK9	OR5DG_HUMAN	P	184	ENSP00000367649:S184P	ENSP00000367649:S184P	S	+	1	0	OR5D16	55363353	0.000000	0.05858	0.001000	0.08648	0.872000	0.50106	-2.974000	0.00666	0.229000	0.21039	0.433000	0.28618	TCC		0.418	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		C	55606777	T	C	55606777	3	2	215	1	0	0	0	0	1	0	0	0	11156	1435	50	4	552	4	OR5D16	11	55606777	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08	54782762	55606777	79399739	24	15040											
UVRAG	7405	broad.mit.edu	37	chr11	75852116	75852116	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctagccaagaacaaggaGaagccctctccgggcaccgg	12	3	11	15	2	1	2	0	0	1	2	2	3	1	2	5	3	3	1	5	3	5	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:75852116G>T	ENST00000356136.3	+	15	2000	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	UVRAG_ENST00000531818.1_Nonsense_Mutation_p.E215*|UVRAG_ENST00000532130.1_Nonsense_Mutation_p.E215*|UVRAG_ENST00000538870.1_Nonsense_Mutation_p.E143*|UVRAG_ENST00000528420.1_Nonsense_Mutation_p.E486*|UVRAG_ENST00000539288.1_Nonsense_Mutation_p.E215*|UVRAG_ENST00000533454.1_Nonsense_Mutation_p.E215*	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	587					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAACAAGGAGAAGCCCTCTC	0.577																																						uc001oxc.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1759-1761)Gaa>Taa		Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.							35	41	39					11																	75852116		2200	4292	6492	SO:0001587	stop_gained	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852116G>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1759G>T	11.37:g.75852116G>T	ENSP00000348455:p.Glu587*					UVRAG_uc010rrw.2_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.3_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.2_Nonsense_Mutation_p.E143*	p.E587*	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			14	2000	+			587					B3KTC1|O00392	Nonsense_Mutation	SNP	ENST00000356136.3	37	c.1759G>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359877	0.82353	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	.	.	.	5.6	3.72	0.42706	.	0.816509	0.11605	N	0.547363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.3416	7.0495	0.25065	0.1503:0.1522:0.6975:0.0	.	.	.	.	X	587;486;215;215;215;215;143	.	ENSP00000348455:E587X	E	+	1	0	UVRAG	75529764	0.979000	0.34478	0.001000	0.08648	0.027000	0.11550	4.182000	0.58310	0.721000	0.32231	0.655000	0.94253	GAA		0.577	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		T	75852116	G	T	75852116	4	4	215	1	0	0	0	0	0	1	0	0	17105	943	33	5	1817	5	UVRAG	11	75852116	Nonsense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	20245339	75852116	59154400	25	15041											
RACGAP1	29127	broad.mit.edu	37	chr12	50387942	50387942	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccataaaggctctgttaagGcgaaaggtcagaagaggttc	13	9	12	7	1	2	2	1	0	1	2	4	3	3	2	1	4	0	3	1	4	5	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:50387942G>C	ENST00000427314.2	-	14	1534	c.1311C>G	c.(1309-1311)cgC>cgG	p.R437R	RACGAP1_ENST00000312377.5_Silent_p.R437R|RACGAP1_ENST00000551016.1_Silent_p.R437R|RACGAP1_ENST00000454520.2_Silent_p.R437R|RACGAP1_ENST00000434422.1_Silent_p.R437R|RACGAP1_ENST00000547905.1_Silent_p.R437R|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000548961.1_5'Flank	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTCTGTTAAGGCGAAAGGTCA	0.403																																						uc001rvt.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(1309-1311)cgC>cgG		Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.							116	112	113					12																	50387942		2203	4300	6503	SO:0001819	synonymous_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50387942G>C		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1311C>G	12.37:g.50387942G>C						RACGAP1_uc009zlm.1_Silent_p.R437R|RACGAP1_uc001rvs.2_Silent_p.R437R|RACGAP1_uc001rvu.2_Silent_p.R437R	p.R437R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			13	1621	-			437			Rho-GAP.			Silent	SNP	ENST00000427314.2	37	c.1311C>G	CCDS8795.1																																																																																				0.403	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		C	50387942	G	C	50387942	2	2	215	1	0	0	0	0	0	0	0	1	12977	1190	42	5		5	RACGAP1	12	50387942	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08		50387942	83463953	26	15042											
LRP1	4035	broad.mit.edu	37	chr12	57571370	57571370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatcctttggattgacGccaggtcagcaccctctgtg	7	10	11	13	2	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	0	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:57571370G>A	ENST00000243077.3	+	26	4823	c.4357G>A	c.(4357-4359)Gcc>Acc	p.A1453T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1453					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGGATTGACGCCAGGTCAGC	0.657																																						uc001snd.3																			0		p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4357-4359)Gcc>Acc		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						32	27	29					12																	57571370		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57571370G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4357G>A	12.37:g.57571370G>A	ENSP00000243077:p.Ala1453Thr						p.A1453T	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	25	4823	+			1453					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4357G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871622	0.72065	.	.	ENSG00000123384	ENST00000243077	D	0.90563	-2.69	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.95389	0.8503	M	0.88031	2.925	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	D	0.95523	0.8596	10	0.52906	T	0.07	.	17.3088	0.87202	0.0:0.0:1.0:0.0	.	1453	Q07954	LRP1_HUMAN	T	1453	ENSP00000243077:A1453T	ENSP00000243077:A1453T	A	+	1	0	LRP1	55857637	1.000000	0.71417	0.970000	0.41538	0.595000	0.36748	9.648000	0.98483	2.631000	0.89168	0.462000	0.41574	GCC		0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57571370	G	A	57571370	3	1	215	1	0	0	0	0	1	0	0	0	8951	1087	38	1	4459	1	LRP1	12	57571370	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	7183428	57571370	76280525	27	15043											
CLIP1	6249	broad.mit.edu	37	chr12	122839754	122839754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgccctctccagatcccGttccgccagcagctgctcaa	6	8	7	20	3	2	1	1	0	1	1	6	1	5	1	6	0	3	4	6	0	1	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:122839754G>A	ENST00000540338.1	-	5	1152	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	CLIP1_ENST00000537178.1_Missense_Mutation_p.R371W|CLIP1_ENST00000302528.7_Missense_Mutation_p.R371W|CLIP1_ENST00000545889.1_Missense_Mutation_p.R72W|CLIP1_ENST00000358808.2_Missense_Mutation_p.R371W|CLIP1_ENST00000361654.4_Missense_Mutation_p.R371W			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	371					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCAGATCCCGTTCCGCCAGC	0.632																																						uc001ucg.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1111-1113)Cgg>Tgg		Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.							69	69	69					12																	122839754		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122839754G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1111C>T	12.37:g.122839754G>A	ENSP00000439093:p.Arg371Trp					CLIP1_uc001uch.1_Missense_Mutation_p.R371W|CLIP1_uc001uci.1_Missense_Mutation_p.R371W|CLIP1_uc001ucj.1_Missense_Mutation_p.R72W|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.2_Intron	p.R371W	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	5	1266	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		371					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1111C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038361	0.75617	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338	T;T;T;T;T	0.61040	0.99;0.14;0.14;0.16;0.16	5.26	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.80607	-0.1307	10	0.87932	D	0	-14.9458	12.6629	0.56824	0.0:0.0:0.71:0.29	.	371;371;371	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	W	72;371;371;216;371;371	ENSP00000438743:R72W;ENSP00000303585:R371W;ENSP00000351665:R371W;ENSP00000445531:R371W;ENSP00000439093:R371W	ENSP00000303585:R371W	R	-	1	2	CLIP1	121405707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.079000	0.50104	2.457000	0.83068	0.655000	0.94253	CGG		0.632	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		A	122839754	G	A	122839754	3	1	215	1	0	0	0	0	1	0	0	0	3532	1144	40	1	3252	1	CLIP1	12	122839754	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	65268384	122839754	11012141	28	15044											
TMEM132D	121256	broad.mit.edu	37	chr12	129694161	129694161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaccactttcaccgggacGgccaccgtcttccccgtgag	7	7	11	16	4	2	2	1	1	1	1	3	4	3	3	6	2	0	0	6	2	0	2	rs189348668		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:129694161G>A	ENST00000422113.2	-	5	1673	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	449					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACCGGGACGGCCACCGTCT	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		17852	0		0	False		,,,				2504	0					uc009zyl.1																			0		p.A449V(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1345-1347)gcC>gcT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							103	81	88					12																	129694161		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129694161G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1347C>T	12.37:g.129694161G>A							p.A449A	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1675	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	449					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1347C>T	CCDS9266.1																																																																																				0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129694161	G	A	129694161	2	1	215	1	0	0	0	0	0	0	0	1	16044	1103	39	2		2	TMEM132D	12	129694161	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	6854407	129694161	4157734	29	15045											
OR6S1	341799	broad.mit.edu	37	chr14	21109809	21109809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgggagccctgccaggacGaactctgttggatcactact	8	11	11	11	1	2	0	1	0	1	0	2	4	2	3	2	3	4	1	2	3	2	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr14:21109809G>A	ENST00000320704.3	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453																																						uc001vxv.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(40-42)ttC>ttT		Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.							113	120	117					14																	21109809		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109809G>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.42C>T	14.37:g.21109809G>A							p.F14F	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	0	42	-	all_cancers(95;0.00304)		14					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.42C>T	CCDS32038.1																																																																																				0.453	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			A	21109809	G	A	21109809	2	1	215	1	0	0	0	0	0	0	0	1	11209	1049	37	2		2	OR6S1	14	21109809	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08		21109809	86239731	30	15046											
VPS18	57617	broad.mit.edu	37	chr15	41191139	41191139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatgagcccaaccacGtggagctgggacgtaaggat	13	5	14	9	2	0	1	0	1	0	0	0	4	0	4	2	4	3	3	2	4	3	1	rs201577141		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:41191139G>A	ENST00000220509.5	+	3	607	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	VPS18_ENST00000558474.1_Missense_Mutation_p.V90M	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	90					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCCAACCACGTGGAGCTGGG	0.488																																						uc001zne.3																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(268-270)Gtg>Atg		Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.							103	86	92					15																	41191139		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191139G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.268G>A	15.37:g.41191139G>A	ENSP00000220509:p.Val90Met						p.V90M	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	2	607	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	90					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.268G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306646	0.60305	.	.	ENSG00000104142	ENST00000220509	T	0.49139	0.79	4.77	1.81	0.25067	.	0.250524	0.39475	N	0.001358	T	0.41236	0.1150	L	0.57536	1.79	0.45464	D	0.998433	B	0.20780	0.048	B	0.20955	0.032	T	0.25813	-1.0121	10	0.49607	T	0.09	-17.684	9.1659	0.37052	0.241:0.0:0.759:0.0	.	90	Q9P253	VPS18_HUMAN	M	90	ENSP00000220509:V90M	ENSP00000220509:V90M	V	+	1	0	VPS18	38978431	1.000000	0.71417	0.753000	0.31225	0.737000	0.42083	3.550000	0.53691	0.211000	0.20683	0.455000	0.32223	GTG		0.488	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			A	41191139	G	A	41191139	3	1	215	1	0	0	0	0	1	0	0	0	17191	1145	40	1	278	1	VPS18	15	41191139	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		41191139	61340253	31	15047											
SLC30A4	7782	broad.mit.edu	37	chr15	45814527	45814527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttagcatagatttgaggCgcttccacgcgccagagccg	8	9	11	13	4	0	3	0	1	0	2	2	3	2	3	4	1	2	2	4	1	2	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:45814527C>T	ENST00000261867.4	-	2	340	c.26G>A	c.(25-27)cGc>cAc	p.R9H	SLC30A4_ENST00000559667.1_5'Flank|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	9					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATTTGAGGCGCTTCCACGC	0.652																																						uc001zvj.3																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(25-27)cGc>cAc		Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.							19	23	22					15																	45814527		2184	4295	6479	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814527C>T		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.26G>A	15.37:g.45814527C>T	ENSP00000261867:p.Arg9His					HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	p.R9H	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	1	338	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	9					Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.26G>A	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156849	0.57259	.	.	ENSG00000104154	ENST00000261867	T	0.66099	-0.19	4.46	4.46	0.54185	.	0.295460	0.32802	N	0.005637	T	0.53286	0.1787	N	0.24115	0.695	0.37157	D	0.902403	D	0.67145	0.996	P	0.48270	0.572	T	0.64807	-0.6320	10	0.72032	D	0.01	-1.2719	11.7184	0.51668	0.0:0.8211:0.1789:0.0	.	9	O14863	ZNT4_HUMAN	H	9	ENSP00000261867:R9H	ENSP00000261867:R9H	R	-	2	0	SLC30A4	43601819	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	2.081000	0.41596	2.021000	0.59480	0.591000	0.81541	CGC		0.652	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			T	45814527	C	T	45814527	3	4	215	1	0	0	0	0	1	0	0	0	14557	768	27	1	1291	1	SLC30A4	15	45814527	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	4623388	45814527	56716865	32	15048											
SHCBP1	79801	broad.mit.edu	37	chr16	46615749	46615749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtcatcagcttgcgtgatCcccagttcactcaacctttt	7	15	6	13	1	4	1	4	1	0	0	5	1	5	1	3	0	3	2	3	0	1	5			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr16:46615749C>T	ENST00000303383.3	-	13	2177	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	637					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTTGCGTGATCCCCAGTTCAC	0.433																																						uc002eec.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1909-1911)ggG>ggA		Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.							207	172	184					16																	46615749		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46615749C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1911G>A	16.37:g.46615749C>T							p.G637G	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			12	1951	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	637					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.1911G>A	CCDS10720.1																																																																																				0.433	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		T	46615749	C	T	46615749	2	4	215	1	0	0	0	0	0	0	0	1	14274	842	30	3		3	SHCBP1	16	46615749	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		46615749	43739004	33	15049											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							66	61	63					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579312C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	p.T125_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	T	7579312	C	T	7579312	5	4	215	1	0	0	0	0	0	0	1	0	16378	666	23	2	927	2	TP53	17	7579312	Splice_Site	SNP	C	TCGA-28-5215-01A-01D-1486-08		7579312	73615898	34	15050											
MYH2	4620	broad.mit.edu	37	chr17	10432722	10432722	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattcttgggccaacttcAagtcaccctcaagtttcctc	8	13	7	13	0	4	0	3	0	1	0	6	1	5	1	3	2	1	1	3	2	3	4	rs552670900		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:10432722A>T	ENST00000245503.5	-	25	3578	c.3194T>A	c.(3193-3195)tTg>tAg	p.L1065*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.L1065*|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1065					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCAACTTCAAGTCACCCTC	0.373																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3193-3195)tTg>tAg		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							142	132	135					17																	10432722		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432722A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3194T>A	17.37:g.10432722A>T	ENSP00000245503:p.Leu1065*					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.3_Intron	p.L1065*	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			24	3322	-			1065					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.3194T>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	40	8.521683	0.98848	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.24	5.24	0.73138	.	0.000000	0.31415	U	0.007693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3006	0.73949	1.0:0.0:0.0:0.0	.	.	.	.	X	1065	.	ENSP00000245503:L1065X	L	-	2	0	MYH2	10373447	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	8.765000	0.91724	2.194000	0.70268	0.482000	0.46254	TTG		0.373	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10432722	A	T	10432722	4	4	215	1	0	0	0	0	0	1	0	0	10035	131	5	5	2695	5	MYH2	17	10432722	Nonsense_Mutation	SNP	A	TCGA-28-5215-01A-01D-1486-08	2853410	10432722	70762488	35	15051											
NR1D1	9572	broad.mit.edu	37	chr17	38252312	38252312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcatccgctgcttctcTcgtttggggatgcgcccaaa	7	10	11	13	3	1	0	0	0	1	0	4	1	2	1	2	2	3	5	2	2	2	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:38252312T>C	ENST00000246672.3	-	5	1263	c.633A>G	c.(631-633)cgA>cgG	p.R211R		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	211	Crucial for activation of GJA1. {ECO:0000250}.|Hinge.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCTGCTTCTCTCGTTTGGGGA	0.562																																						uc002htz.2																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(631-633)cgA>cgG		Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.							53	48	50					17																	38252312		2203	4297	6500	SO:0001819	synonymous_variant	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38252312T>C	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.633A>G	17.37:g.38252312T>C						NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	p.R211R	NM_021724	NP_068370	P20393	NR1D1_HUMAN			4	1259	-	Colorectal(19;0.000442)		211					Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	37	c.633A>G	CCDS11361.1																																																																																				0.562	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			C	38252312	T	C	38252312	2	2	215	1	0	0	0	0	0	0	0	1	10615	1538	54	4		4	NR1D1	17	38252312	Silent	SNP	T	TCGA-28-5215-01A-01D-1486-08	27819590	38252312	42942898	36	15052											
KRT17	3872	broad.mit.edu	37	chr17	39780481	39780481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtaggaggccaggCggtcattgaggttctgcatg	7	10	16	8	1	2	1	1	1	1	0	3	2	3	2	2	6	1	3	2	6	1	3	rs28928897|rs57674130|rs267607414		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:39780481C>T	ENST00000311208.8	-	1	348	c.281G>A	c.(280-282)cGc>cAc	p.R94H	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	94	Coil 1A.|Rod.		Missing (in PC2).|R -> C (in PC2 and SM). {ECO:0000269|PubMed:9767294}.|R -> H (in SM). {ECO:0000269|PubMed:9008238}.|R -> P (in PC2). {ECO:0000269|PubMed:11348474}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGGCCAGGCGGTCATTGAG	0.627																																					Pancreas(92;1242 2086 39193 50508)	uc002hxh.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	GRCh37	CM012143|CM970840	KRT17	M	rs28928897	c.(280-282)cGc>cAc		Homo sapiens keratin 17 (KRT17), mRNA.							88	93	91					17																	39780481		2203	4300	6503	SO:0001583	missense	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780481C>T	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.281G>A	17.37:g.39780481C>T	ENSP00000308452:p.Arg94His					JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R94H	p.R94H	NM_000422	NP_000413	Q04695	K1C17_HUMAN			0	402	-		Breast(137;0.000307)	94	Missing (in Ref. 5; AAH72018).	Missing (in PC2).|R -> C (in PC2 and SM).|R -> H (in SM).|R -> P (in PC2).	Coil 1A.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.281G>A	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237988	0.95240	.	.	ENSG00000128422	ENST00000311208	D	0.94046	-3.34	5.03	5.03	0.67393	Filament (1);	0.000000	0.47455	D	0.000238	D	0.97548	0.9197	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98192	1.0463	10	0.87932	D	0	.	18.9279	0.92552	0.0:1.0:0.0:0.0	rs28928897;rs59756937	94	Q04695	K1C17_HUMAN	H	94	ENSP00000308452:R94H	ENSP00000308452:R94H	R	-	2	0	KRT17	37034007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.771000	0.95319	0.563000	0.77884	CGC		0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		T	39780481	C	T	39780481	3	4	215	1	0	0	0	0	1	0	0	0	8454	768	27	1	1049	1	KRT17	17	39780481	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	1528169	39780481	41414729	37	15053											
HELZ	9931	broad.mit.edu	37	chr17	65157047	65157047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcagaatatgtttgacagCctgagctagagtgaacgttt	11	12	11	7	1	0	5	0	3	0	2	0	5	0	5	1	0	4	4	1	0	4	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:65157047C>T	ENST00000358691.5	-	16	2207	c.2041G>A	c.(2041-2043)Gct>Act	p.A681T	HELZ_ENST00000580168.1_Missense_Mutation_p.A681T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	681						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTGACAGCCTGAGCTAGA	0.493																																						uc010wqk.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2041-2043)Gct>Act		Homo sapiens helicase with zinc finger (HELZ), mRNA.							129	131	130					17																	65157047		2011	4178	6189	SO:0001583	missense	9931							g.chr17:65157047C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2041G>A	17.37:g.65157047C>T	ENSP00000351524:p.Ala681Thr					HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A681T	p.A681T	NM_014877	NP_055692					15	2228	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2041G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885967	0.51908	.	.	ENSG00000198265	ENST00000358691	D	0.82167	-1.58	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.90792	0.4687	10	0.72032	D	0.01	-11.2176	19.3467	0.94365	0.0:1.0:0.0:0.0	.	681;681	B7ZLW2;P42694	.;HELZ_HUMAN	T	681	ENSP00000351524:A681T	ENSP00000351524:A681T	A	-	1	0	HELZ	62587509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	2.638000	0.89438	0.591000	0.81541	GCT		0.493	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		T	65157047	C	T	65157047	3	4	215	1	0	0	0	0	1	0	0	0	7049	739	26	3	3859	3	HELZ	17	65157047	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	25376566	65157047	16038163	38	15054											
EPB41L3	23136	broad.mit.edu	37	chr18	5434010	5434010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcatctgggtcatagTctccgagctctgactggaca	9	11	9	12	1	5	1	2	1	3	0	6	3	5	2	1	2	1	1	1	2	1	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr18:5434010T>C	ENST00000341928.2	-	7	1056	c.716A>G	c.(715-717)gAc>gGc	p.D239G	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D239G|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D239G|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D239G|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D239G	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	239	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGGTCATAGTCTCCGAGCTC	0.522																																						uc002kmt.1																			0		p.G238R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(715-717)gAc>gGc		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							193	171	179					18																	5434010		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5434010T>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.716A>G	18.37:g.5434010T>C	ENSP00000343158:p.Asp239Gly					EPB41L3_uc010wzh.1_Missense_Mutation_p.D239G|EPB41L3_uc002kmu.1_Missense_Mutation_p.D239G|EPB41L3_uc010dkq.1_Missense_Mutation_p.D130G|EPB41L3_uc010dks.1_Missense_Mutation_p.D261G|EPB41L3_uc002kmv.1_Missense_Mutation_p.D130G	p.D239G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			6	802	-			239			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.716A>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656979	0.88154	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.082130	0.85682	D	0.000000	D	0.94118	0.8114	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.993;0.998;0.998;0.997;0.998	D	0.96225	0.9163	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	239;239;130;239;239	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	G	239;130;239;130;239;239	ENSP00000343158:D239G;ENSP00000441174:D239G;ENSP00000341138:D239G;ENSP00000382981:D239G	ENSP00000343158:D239G	D	-	2	0	EPB41L3	5424010	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAC		0.522	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		C	5434010	T	C	5434010	3	2	215	1	0	0	0	0	1	0	0	0	5154	1667	58	4	2611	4	EPB41L3	18	5434010	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08		5434010	72643238	39	15055											
C19orf28	126321	broad.mit.edu	37	chr19	3547922	3547922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcaggggccaacagggggGtgtgctcgcctggctcctcc	4	7	17	13	1	0	0	0	0	0	0	3	0	2	0	4	7	2	3	4	7	1	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr19:3547922G>C	ENST00000355415.2	-	4	930	c.761C>G	c.(760-762)aCc>aGc	p.T254S	MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.T254S|MFSD12_ENST00000398558.4_Missense_Mutation_p.T254S	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	254					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAACAGGGGGGTGTGCTCGCC	0.711																																						uc002lxw.3																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(760-762)aCc>aGc		Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.							7	9	9					19																	3547922		1890	4030	5920	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3547922G>C	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.761C>G	19.37:g.3547922G>C	ENSP00000347583:p.Thr254Ser					MFSD12_uc002lxx.3_Missense_Mutation_p.T254S|MFSD12_uc002lxy.3_Missense_Mutation_p.T245S|MFSD12_uc002lxz.3_Missense_Mutation_p.T254S	p.T254S	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN			3	931	-			254					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.761C>G	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887537	0.02511	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80304	-1.36;-1.36;-1.36	4.62	-0.716	0.11212	Major facilitator superfamily domain, general substrate transporter (1);	0.737146	0.13860	N	0.357739	T	0.57184	0.2036	N	0.02960	-0.455	0.24703	N	0.993242	B;B;B	0.22003	0.002;0.001;0.063	B;B;B	0.19666	0.003;0.003;0.026	T	0.32107	-0.9919	10	0.09338	T	0.73	-19.2125	17.0381	0.86481	0.0:0.3964:0.6035:0.0	.	254;245;254	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	S	254	ENSP00000374046:T254S;ENSP00000381566:T254S;ENSP00000347583:T254S	ENSP00000347583:T254S	T	-	2	0	C19orf28	3498922	0.875000	0.30112	0.818000	0.32626	0.507000	0.33981	0.457000	0.21875	0.034000	0.15491	-0.280000	0.10049	ACC		0.711	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		C	3547922	G	C	3547922	3	2	215	1	0	0	0	0	1	0	0	0	1917	1261	44	5	916	5	C19orf28	19	3547922	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		3547922	55581061	40	15056											
CABIN1	23523	broad.mit.edu	37	chr22	24452748	24452748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagcggcggtctgcccGtgtccgaaacaccaagtgca	11	5	12	13	4	1	0	0	0	1	0	2	1	2	0	3	2	5	2	3	2	3	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr22:24452748G>A	ENST00000398319.2	+	10	1572	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R346H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R396H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	396					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGGTCTGCCCGTGTCCGAAAC	0.448																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1186-1188)cGt>cAt		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							114	118	117					22																	24452748		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24452748G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1187G>A	22.37:g.24452748G>A	ENSP00000381364:p.Arg396His					CABIN1_uc021wnc.1_Missense_Mutation_p.R346H|CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.2_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.2_Missense_Mutation_p.R351H	p.R396H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			9	1314	+			396					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1187G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442189	0.96187	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.73897	-0.79;0.0;0.0;-0.79;0.0	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.86008	0.5830	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	D	0.87078	0.2164	10	0.87932	D	0	.	18.4664	0.90757	0.0:0.0:1.0:0.0	.	351;396;346;396	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	H	351;396;346;351;396;396	ENSP00000394209:R351H;ENSP00000263119:R396H;ENSP00000384694:R346H;ENSP00000412389:R351H;ENSP00000381364:R396H	ENSP00000263119:R396H	R	+	2	0	CABIN1	22782748	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	9.792000	0.99085	2.677000	0.91161	0.558000	0.71614	CGT		0.448	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24452748	G	A	24452748	3	1	215	1	0	0	0	0	1	0	0	0	2528	1145	40	1	1221	1	CABIN1	22	24452748	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		24452748	26851818	41	15057											
DCAF8L2	347442	broad.mit.edu	37	chrX	27765562	27765562	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagacatctgccctgcccCgacctcgctggcaggtcgtt	6	8	11	16	3	1	1	0	0	1	1	3	3	1	1	4	2	2	3	4	2	0	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:27765562C>T	ENST00000451261.2	+	5	949	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	184										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCCTGCCCCGACCTCGCTG	0.612																																						uc011mjy.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(550-552)Cga>Tga		Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.							48	43	45					X																	27765562		692	1591	2283	SO:0001587	stop_gained	347442							g.chrX:27765562C>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.550C>T	X.37:g.27765562C>T	ENSP00000462745:p.Arg184*						p.R184*	NM_001136533	NP_001130005					0	637	+								B2RXH9|J3KT06	Nonsense_Mutation	SNP	ENST00000451261.2	37	c.550C>T	CCDS59162.1																																																																																				0.612	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		T	27765562	C	T	27765562	4	4	215	1	0	0	0	0	0	1	0	0	4278	644	23	2	552	2	DCAF8L2	23	27765562	Nonsense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		27765562	127504998	42	15058											
ZNF630	57232	broad.mit.edu	37	chrX	47918931	47918931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggtgtgatttctcactGaaggctttcctacaatctcc	9	14	8	10	0	2	3	1	3	2	0	5	3	3	3	2	2	1	1	2	2	3	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:47918931G>C	ENST00000409324.3	-	5	1126	c.900C>G	c.(898-900)ttC>ttG	p.F300L	ZNF630_ENST00000442455.3_Missense_Mutation_p.F286L|ZNF630_ENST00000276054.4_Missense_Mutation_p.F176L|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTTCTCACTGAAGGCTTTCC	0.413																																						uc004div.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(898-900)ttC>ttG		Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.							76	68	71					X																	47918931		2196	4289	6485	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918931G>C	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.900C>G	X.37:g.47918931G>C	ENSP00000386393:p.Phe300Leu					ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.F286L|ZNF630_uc022bvs.1_Missense_Mutation_p.F300L	p.F300L	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			4	1152	-			300					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.900C>G	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	8.635	0.894612	0.17613	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.46063	0.88;0.88;0.88	2.16	-0.719	0.11201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65964	0.2742	M	0.92604	3.325	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53940	-0.8367	9	0.72032	D	0.01	.	6.1161	0.20127	0.4695:0.0:0.5305:0.0	.	300	Q2M218	ZN630_HUMAN	L	286;176;300	ENSP00000393163:F286L;ENSP00000354683:F176L;ENSP00000386393:F300L	ENSP00000354683:F176L	F	-	3	2	ZNF630	47803875	0.213000	0.23551	0.007000	0.13788	0.131000	0.20780	0.466000	0.22019	-0.182000	0.10602	-0.268000	0.10319	TTC		0.413	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		C	47918931	G	C	47918931	3	2	215	1	0	0	0	0	1	0	0	0	18051	1281	45	5	1077	5	ZNF630	23	47918931	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	20153369	47918931	107351629	43	15059											
DCX	1641	broad.mit.edu	37	chrX	110644549	110644549	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgtctgaggaacagacaTagctttcccctaaggcaaga	13	9	10	9	0	1	3	0	1	1	2	2	4	2	4	2	2	2	3	2	2	4	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:110644549T>G	ENST00000338081.3	-	3	788	c.617A>C	c.(616-618)tAt>tCt	p.Y206S	DCX_ENST00000356915.2_Missense_Mutation_p.Y125S|DCX_ENST00000488120.1_Missense_Mutation_p.Y125S|DCX_ENST00000356220.3_Missense_Mutation_p.Y125S|DCX_ENST00000371993.2_Missense_Mutation_p.Y125S|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	206	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		Y -> D (in SBHX). {ECO:0000269|PubMed:9618162}.|Y -> H (in LISX1 and SBHX). {ECO:0000269|PubMed:9489699}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.Y125F(1)|p.Y206F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGAACAGACATAGCTTTCCCC	0.378																																						uc004epd.3																			2	Substitution - Missense(2)	p.Y206F(2)|p.Y125F(1)	lung(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(616-618)tAt>tCt		Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.							77	73	75					X																	110644549		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644549T>G	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.617A>C	X.37:g.110644549T>G	ENSP00000337697:p.Tyr206Ser					DCX_uc011msv.2_Missense_Mutation_p.Y206S|DCX_uc004epe.3_Missense_Mutation_p.Y125S|DCX_uc004epf.3_Missense_Mutation_p.Y125S|DCX_uc004epg.3_Missense_Mutation_p.Y125S	p.Y206S	NM_000555	NP_835366	O43602	DCX_HUMAN			2	789	-			206		Y -> D (in SBHX).|Y -> H (in LISX1 and SBHX).	Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.617A>C	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	3.994715|3.994715	0.74703|0.74703	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.|D;D;D;D;D	.|0.96491	.|-4.03;-4.03;-4.03;-4.03;-4.03	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Doublecortin domain (5);	.|0.189770	.|0.46442	.|D	.|0.000283	D|D	0.98544|0.98544	0.9514|0.9514	H|H	0.94503|0.94503	3.545|3.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.99651|0.99651	1.0991|1.0991	5|10	.|0.87932	.|D	.|0	.|.	13.9428|13.9428	0.64066|0.64066	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|194;206	.|B4DM53;O43602	.|.;DCX_HUMAN	L|S	198|125;125;206;125;125	.|ENSP00000349385:Y125S;ENSP00000361061:Y125S;ENSP00000337697:Y206S;ENSP00000348553:Y125S;ENSP00000419861:Y125S	.|ENSP00000337697:Y206S	M|Y	-|-	1|2	0|0	DCX|DCX	110531205|110531205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.020000|8.020000	0.88740|0.88740	1.826000|1.826000	0.53198|0.53198	0.486000|0.486000	0.48141|0.48141	ATG|TAT		0.378	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		G	110644549	T	G	110644549	3	3	215	1	0	0	0	0	1	0	0	0	4318	1406	49	5	743	5	DCX	23	110644549	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08	62725618	110644549	44626011	44	15060											
AIFM1	9131	broad.mit.edu	37	chrX	129264005	129264005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatccccacgaccactttGtccctgaggtagaagatgac	12	8	8	13	1	0	4	0	2	0	2	2	5	2	4	4	1	0	1	4	1	3	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:129264005G>T	ENST00000287295.3	-	15	1940	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	AIFM1_ENST00000319908.3_Missense_Mutation_p.D566E|AIFM1_ENST00000440263.1_Missense_Mutation_p.D218E|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.D231E|AIFM1_ENST00000346424.2_Missense_Mutation_p.D283E	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	570					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CGACCACTTTGTCCCTGAGGT	0.517																																						uc004evg.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1708-1710)gaC>gaA		Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							191	170	177					X																	129264005		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129264005G>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1710C>A	X.37:g.129264005G>T	ENSP00000287295:p.Asp570Glu					AIFM1_uc011mur.2_Missense_Mutation_p.D218E|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.D566E|AIFM1_uc004evi.3_Missense_Mutation_p.D283E|AIFM1_uc004evk.3_Missense_Mutation_p.D218E	p.D570E	NM_004208	NP_004199	O95831	AIFM1_HUMAN			14	1941	-			570					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1710C>A	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546026	0.45383	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.85773	0.62;0.66;-2.03;0.65;-1.04	4.88	0.712	0.18167	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.045725	0.85682	N	0.000000	T	0.77164	0.4090	L	0.46157	1.445	0.80722	D	1	B;B;B	0.26547	0.037;0.152;0.094	B;B;B	0.28916	0.024;0.096;0.044	T	0.66512	-0.5905	10	0.45353	T	0.12	-11.4315	6.0607	0.19837	0.3402:0.1413:0.5184:0.0	.	283;566;570	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	E	231;283;566;218;570	ENSP00000431222:D231E;ENSP00000316320:D283E;ENSP00000315122:D566E;ENSP00000405879:D218E;ENSP00000287295:D570E	ENSP00000287295:D570E	D	-	3	2	AIFM1	129091686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.317000	0.33631	0.111000	0.17947	0.600000	0.82982	GAC		0.517	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			T	129264005	G	T	129264005	3	4	215	1	0	0	0	0	1	0	0	0	426	1368	48	5	139	5	AIFM1	23	129264005	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	18619456	129264005	26006555	45	15061											
ATP6AP1	537	broad.mit.edu	37	chrX	153663708	153663708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagcaatggctccgtcGcctacttcaatgcttcccag	8	10	7	16	2	1	0	1	0	0	0	5	0	4	0	4	1	3	3	4	1	3	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:153663708G>A	ENST00000369762.2	+	9	1121	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	354					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTCCGTCGCCTACTTCAA	0.597																																						uc004flf.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1060-1062)Gcc>Acc		Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.							65	52	56					X																	153663708		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663708G>A	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1060G>A	X.37:g.153663708G>A	ENSP00000358777:p.Ala354Thr					ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	p.A354T	NM_001183	NP_001174	Q15904	VAS1_HUMAN			8	1121	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		354					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1060G>A	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931356	0.34096	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.69	-0.283	0.12874	.	0.635724	0.18174	N	0.149376	T	0.43233	0.1238	M	0.78049	2.395	0.09310	N	1	B;B	0.26120	0.061;0.142	B;B	0.24155	0.051;0.051	T	0.36359	-0.9751	9	0.20519	T	0.43	-0.4665	9.6942	0.40147	0.4819:0.0:0.5181:0.0	.	314;354	B3KR70;Q15904	.;VAS1_HUMAN	T	354;268;178	.	ENSP00000358777:A354T	A	+	1	0	ATP6AP1	153316902	0.002000	0.14202	0.000000	0.03702	0.190000	0.23558	0.957000	0.29215	-0.582000	0.05929	-0.196000	0.12772	GCC		0.597	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		A	153663708	G	A	153663708	3	1	215	1	0	0	0	0	1	0	0	0	1165	1087	38	1	1094	1	ATP6AP1	23	153663708	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	24399703	153663708	1606852	46	15062											
ABCA4	24	broad.mit.edu	37	chr1	94512564	94512564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagacggtccacagctggCcggccacagggctcaaaaat	11	6	11	13	2	2	1	2	0	0	1	3	1	3	1	3	4	1	2	3	4	2	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:94512564C>T	ENST00000370225.3	-	19	2915	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	ABCA4_ENST00000535735.1_Silent_p.R869R	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	943	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581). {ECO:0000269|PubMed:10746567, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:11594993, ECO:0000269|PubMed:9054934, ECO:0000269|Ref.5}.|R -> W (in STGD1 and FFM; dbSNP:rs61749446). {ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11527935}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCTGGCCGGCCACAGG	0.522																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2827-2829)cgG>cgA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							148	158	154					1																	94512564		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512564C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2829G>A	1.37:g.94512564C>T						ABCA4_uc010otn.1_Silent_p.R869R	p.R943R	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	18	2933	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	943		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).|R -> W (in STGD1 and FFM).	ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2829G>A	CCDS747.1																																																																																				0.522	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94512564	C	T	94512564	2	4	216	1	0	0	0	0	0	0	0	1	34	726	26	3		3	ABCA4	1	94512564	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		94512564	154738057	1	15063											
PSMD4	5710	broad.mit.edu	37	chr1	151237667	151237667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactggctaaacgcctcaAgaaggagaaagtaaatgttg	17	7	11	6	1	1	2	1	0	0	2	1	4	1	2	1	2	2	3	1	2	8	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:151237667A>G	ENST00000368884.3	+	5	475	c.395A>G	c.(394-396)aAg>aGg	p.K132R	PSMD4_ENST00000368881.4_Missense_Mutation_p.K132R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	132	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAACGCCTCAAGAAGGAGAAA	0.453																																						uc001exl.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(394-396)aAg>aGg		Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.							74	69	71					1																	151237667		2203	4300	6503	SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237667A>G	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.395A>G	1.37:g.151237667A>G	ENSP00000357879:p.Lys132Arg						p.K132R	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	457	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		132			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.395A>G	CCDS991.1	.	.	.	.	.	.	.	.	.	.	A	32	5.172458	0.94807	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.15256	2.44;2.44;2.44	5.44	5.44	0.79542	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.76938	2.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.08493	-1.0719	10	0.49607	T	0.09	-31.6528	15.3268	0.74172	1.0:0.0:0.0:0.0	.	132;132	Q5VWC4;P55036	.;PSMD4_HUMAN	R	132;132;117	ENSP00000357879:K132R;ENSP00000357876:K132R;ENSP00000414499:K117R	ENSP00000357876:K132R	K	+	2	0	PSMD4	149504291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.501000	0.90501	2.288000	0.76882	0.533000	0.62120	AAG		0.453	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		G	151237667	A	G	151237667	3	3	216	1	0	0	0	0	1	0	0	0	12700	72	3	4	413	4	PSMD4	1	151237667	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	56725103	151237667	98012954	2	15064											
XCL1	6375	broad.mit.edu	37	chr1	168549318	168549318	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtagggagtgaagtcTcagataagaggacctgtgtg	11	9	16	5	0	1	3	1	1	1	2	2	5	1	5	1	3	0	1	1	3	3	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:168549318T>G	ENST00000367818.3	+	2	244	c.79T>G	c.(79-81)Tca>Gca	p.S27A		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	27					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGTGAAGTCTCAGATAAGAG	0.433																																						uc001gfo.2																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(79-81)Tca>Gca		Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.							126	129	128					1																	168549318		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549318T>G	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.79T>G	1.37:g.168549318T>G	ENSP00000356792:p.Ser27Ala						p.S27A	NM_002995	NP_002986	P47992	XCL1_HUMAN			1	244	+	all_hematologic(923;0.208)		27					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.79T>G	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	T	5.551	0.286558	0.10513	.	.	ENSG00000143184	ENST00000367818	T	0.03745	3.82	4.36	1.21	0.21127	Chemokine interleukin-8-like domain (1);	0.680985	0.13301	N	0.398240	T	0.00724	0.0024	L	0.34521	1.04	0.20403	N	0.999909	B	0.18863	0.031	B	0.18561	0.022	T	0.45963	-0.9225	9	0.08381	T	0.77	-0.6089	3.0314	0.06108	0.2129:0.5517:0.0:0.2353	.	27	P47992	XCL1_HUMAN	A	27	ENSP00000356792:S27A	ENSP00000356792:S27A	S	+	1	0	XCL1	166815942	0.005000	0.15991	0.443000	0.26883	0.569000	0.35902	0.271000	0.18626	0.576000	0.29452	-0.242000	0.12053	TCA		0.433	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		G	168549318	T	G	168549318	3	3	216	1	0	0	0	0	1	0	0	0	17420	1551	54	5	85	5	XCL1	1	168549318	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08	17311651	168549318	80701303	3	15065											
HHIPL2	79802	broad.mit.edu	37	chr1	222717273	222717273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttgggccaccatgcccaGgtggcggttgagatagtcgt	7	10	14	10	2	1	1	0	1	1	1	2	2	1	1	3	4	1	1	3	4	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:222717273G>C	ENST00000343410.6	-	2	638	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	194					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACCATGCCCAGGTGGCGGTTG	0.607																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(580-582)Ctg>Gtg		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							55	60	58					1																	222717273		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717273G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.580C>G	1.37:g.222717273G>C	ENSP00000342118:p.Leu194Val						p.L194V	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	638	-			194					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.580C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036883	0.35893	.	.	ENSG00000143512	ENST00000343410	T	0.77098	-1.07	5.47	3.6	0.41247	Folate receptor-like (1);	0.000000	0.64402	D	0.000001	D	0.87708	0.6245	M	0.89095	3.005	0.45318	D	0.998312	D	0.89917	1.0	D	0.75484	0.986	D	0.87360	0.2343	10	0.45353	T	0.12	-15.0131	9.6112	0.39663	0.2239:0.0:0.7761:0.0	.	194	Q6UWX4	HIPL2_HUMAN	V	194	ENSP00000342118:L194V	ENSP00000342118:L194V	L	-	1	2	HHIPL2	220783896	1.000000	0.71417	0.969000	0.41365	0.094000	0.18550	4.433000	0.59929	1.299000	0.44798	-0.229000	0.12294	CTG		0.607	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		C	222717273	G	C	222717273	3	2	216	1	0	0	0	0	1	0	0	0	7094	991	35	5	1626	5	HHIPL2	1	222717273	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	54167955	222717273	26533348	4	15066											
GPN1	11321	broad.mit.edu	37	chr2	27861753	27861753	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttctctctggtacagaCtgacatcattgaccacagct	10	12	7	12	0	3	4	1	3	2	1	4	4	3	4	1	1	2	2	1	1	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:27861753C>T	ENST00000610189.1	+	9	579	c.572C>T	c.(571-573)aCt>aTt	p.T191I	GPN1_ENST00000424214.1_Splice_Site_p.T112I|GPN1_ENST00000503738.1_Splice_Site_p.T96I|GPN1_ENST00000515877.1_Splice_Site_p.T112I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Splice_Site_p.T96I|GPN1_ENST00000407583.3_Splice_Site_p.T179I|GPN1_ENST00000264718.3_Splice_Site_p.T205I	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						CTGGTACAGACTGACATCATT	0.393																																						uc010ymc.2																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.e9-1		Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.							109	97	101					2																	27861753		2203	4300	6503	SO:0001630	splice_region_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861753C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.571-1C>T	2.37:g.27861753C>T						GPN1_uc010ezf.3_Splice_Site_p.T179_splice|GPN1_uc010yma.2_Splice_Site_p.T112_splice|GPN1_uc010ymb.2_Splice_Site_p.T96_splice|GPN1_uc010ymd.2_Splice_Site_p.T86_splice|GPN1_uc010ezg.1_Splice_Site_p.T86_splice	p.T205_splice	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN			9	634	+			191						Missense_Mutation	SNP	ENST00000610189.1	37	c.613_splice		.	.	.	.	.	.	.	.	.	.	C	15.79	2.936816	0.52972	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	N	0.01417	-0.88	0.80722	D	1	B;B;B;B	0.27951	0.195;0.17;0.085;0.053	B;B;B;B	0.40659	0.085;0.336;0.241;0.096	T	0.25882	-1.0119	10	0.06365	T	0.9	-14.4529	16.8827	0.86067	0.0:1.0:0.0:0.0	.	191;205;96;179	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	I	112;96;96;112;179;205	ENSP00000424678:T112I;ENSP00000427269:T96I;ENSP00000412170:T96I;ENSP00000398115:T112I;ENSP00000384255:T179I;ENSP00000264718:T205I	ENSP00000264718:T205I	T	+	2	0	GPN1	27715257	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.175000	0.77632	2.773000	0.95371	0.655000	0.94253	ACT		0.393	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266	Missense_Mutation	T	27861753	C	T	27861753	5	4	216	1	0	0	0	0	0	0	1	0	6617	579	20	3	731	3	GPN1	2	27861753	Splice_Site	SNP	C	TCGA-28-5216-01A-01D-1486-08		27861753	215337620	5	15067											
TTN	7273	broad.mit.edu	37	chr2	179496000	179496000	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacaccagtataatcttgaAgttttcctgtaaaatatggg	13	14	7	7	0	1	1	0	1	1	0	2	1	2	1	2	1	1	3	2	1	7	8			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:179496000A>C	ENST00000591111.1	-	187	39076	c.38852T>G	c.(38851-38853)cTt>cGt	p.L12951R	TTN_ENST00000359218.5_Missense_Mutation_p.L5652R|TTN_ENST00000460472.2_Missense_Mutation_p.L5527R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L14592R|TTN_ENST00000342992.6_Missense_Mutation_p.L12024R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L5719R			Q8WZ42	TITIN_HUMAN	titin	12951	Ig-like 86.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATCTTGAAGTTTTCCTGT	0.348																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36070-36072)cTt>cGt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							51	47	48					2																	179496000		1819	4086	5905	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179496000A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38852T>G	2.37:g.179496000A>C	ENSP00000465570:p.Leu12951Arg					MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L5719R|TTN_uc021vta.1_Missense_Mutation_p.L5652R|TTN_uc021vtb.1_Missense_Mutation_p.L5527R	p.L12024R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		185	36296	-			12951			Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36071T>G		.	.	.	.	.	.	.	.	.	.	A	14.25	2.477947	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78635	0.4314	H	0.95043	3.615	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85345	0.1098	9	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	5527;5652;5719;12951	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	12024;5527;5719;5652;5527	ENSP00000343764:L12024R;ENSP00000434586:L5527R;ENSP00000340554:L5719R;ENSP00000352154:L5652R	ENSP00000340554:L5719R	L	-	2	0	TTN	179204245	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.281000	0.95811	2.261000	0.74972	0.533000	0.62120	CTT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179496000	A	C	179496000	3	2	216	1	0	0	0	0	1	0	0	0	16732	72	3	5	64422	5	TTN	2	179496000	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	151634247	179496000	63703373	6	15068											
DNAH7	56171	broad.mit.edu	37	chr2	196753131	196753131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagcctaacatgtgaggctCcatgtaaatcatgccacatc	12	9	7	13	0	1	1	1	1	0	0	3	1	2	1	4	1	3	2	4	1	3	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:196753131C>G	ENST00000312428.6	-	33	5357	c.5257G>C	c.(5257-5259)Gag>Cag	p.E1753Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1753	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGTGAGGCTCCATGTAAATC	0.393																																						uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5257-5259)Gag>Cag		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							53	48	50					2																	196753131		1896	4114	6010	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196753131C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5257G>C	2.37:g.196753131C>G	ENSP00000311273:p.Glu1753Gln						p.E1753Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			32	5358	-			1753			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5257G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236061	0.95240	.	.	ENSG00000118997	ENST00000312428	D	0.89196	-2.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95223	0.8335	10	0.62326	D	0.03	.	19.71	0.96094	0.0:1.0:0.0:0.0	.	1753	Q8WXX0	DYH7_HUMAN	Q	1753	ENSP00000311273:E1753Q	ENSP00000311273:E1753Q	E	-	1	0	DNAH7	196461376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	2.827000	0.97445	0.655000	0.94253	GAG		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196753131	C	G	196753131	3	3	216	1	0	0	0	0	1	0	0	0	4606	864	30	5	6949	5	DNAH7	2	196753131	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	17257131	196753131	46446242	7	15069											
ZDBF2	57683	broad.mit.edu	37	chr2	207171009	207171009	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaagttttgattgtgAtgtttctcttgagtcagtag	10	17	10	4	0	2	4	1	4	1	0	3	4	2	4	0	0	1	3	0	0	3	6			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:207171009A>G	ENST00000374423.3	+	5	2143	c.1757A>G	c.(1756-1758)gAt>gGt	p.D586G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	586							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGATTGTGATGTTTCTCTT	0.428																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1756-1758)gAt>gGt		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							109	95	99					2																	207171009		1888	4115	6003	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171009A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1757A>G	2.37:g.207171009A>G	ENSP00000363545:p.Asp586Gly						p.D586G	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	2007	+			586					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1757A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189333	0.57909	.	.	ENSG00000204186	ENST00000374423	T	0.45276	0.9	4.09	1.72	0.24424	.	0.173462	0.27896	N	0.017413	T	0.31670	0.0804	M	0.64404	1.975	0.09310	N	1	P	0.43024	0.798	B	0.39465	0.3	T	0.18241	-1.0343	10	0.11794	T	0.64	.	5.9527	0.19255	0.8021:0.0:0.1979:0.0	.	586	Q9HCK1	ZDBF2_HUMAN	G	586	ENSP00000363545:D586G	ENSP00000363545:D586G	D	+	2	0	ZDBF2	206879254	0.096000	0.21769	0.069000	0.20011	0.980000	0.70556	0.404000	0.20999	0.385000	0.24970	0.528000	0.53228	GAT		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207171009	A	G	207171009	3	3	216	1	0	0	0	0	1	0	0	0	17596	333	12	4	1767	4	ZDBF2	2	207171009	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	10417878	207171009	36028364	8	15070											
ZNF860	344787	broad.mit.edu	37	chr3	32031844	32031844	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccataatgaagagagaTcttacaagtgtaataaatgt	18	11	8	4	0	1	3	0	1	1	2	2	5	2	3	1	0	1	1	1	0	8	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:32031844T>G	ENST00000360311.4	+	2	1822	c.1273T>G	c.(1273-1275)Tct>Gct	p.S425A		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TGAAGAGAGATCTTACAAGTG	0.348																																						uc011axg.2																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1273-1275)Tct>Gct		Homo sapiens zinc finger protein 860 (ZNF860), mRNA.							73	72	73					3																	32031844		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031844T>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1273T>G	3.37:g.32031844T>G	ENSP00000373274:p.Ser425Ala					ZNF860_uc021wuv.1_Missense_Mutation_p.S425A	p.S425A	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			1	1822	+			425					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1273T>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	T	8.716	0.913176	0.17907	.	.	ENSG00000197385	ENST00000360311	T	0.14893	2.47	0.336	-0.672	0.11377	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	N	0.25647	0.755	0.21652	N	0.999608	B	0.15141	0.012	B	0.14578	0.011	T	0.38929	-0.9638	8	.	.	.	.	4.4004	0.11383	0.0:0.6506:0.0:0.3494	.	425	A6NHJ4	ZN860_HUMAN	A	425	ENSP00000373274:S425A	.	S	+	1	0	ZNF860	32006848	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	0.288000	0.18939	-0.575000	0.05982	-0.578000	0.04140	TCT		0.348	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			G	32031844	T	G	32031844	3	3	216	1	0	0	0	0	1	0	0	0	18191	1435	50	5	1275	5	ZNF860	3	32031844	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08		32031844	165990586	9	15071											
SETD2	29072	broad.mit.edu	37	chr3	47127761	47127761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaacaaagacagcccaTgacgttccagaaaggacttc	15	6	7	13	1	0	3	0	1	0	2	3	4	2	4	3	1	2	1	3	1	3	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:47127761T>C	ENST00000409792.3	-	11	5363	c.5321A>G	c.(5320-5322)cAt>cGt	p.H1774R	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1774					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAGCCCATGACGTTCCAG	0.498			"N, F, S, Mis"		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5521-5523)cAt>cGt		Homo sapiens SET domain containing 2 (SETD2), mRNA.							139	120	126					3																	47127761		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47127761T>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5321A>G	3.37:g.47127761T>C	ENSP00000386759:p.His1774Arg					SETD2_uc003cqs.3_Missense_Mutation_p.H1774R|SETD2_uc003cqt.1_5'Flank	p.H1841R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	11	5608	-		Acute lymphoblastic leukemia(5;0.0169)	1774					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5522A>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600233	0.87055	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90133	-2.62	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000019	D	0.94857	0.8338	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.95203	0.8318	10	0.62326	D	0.03	.	15.5762	0.76387	0.0:0.0:0.0:1.0	.	1774;1774	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1774	ENSP00000386759:H1774R	ENSP00000386759:H1774R	H	-	2	0	SETD2	47102765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.477000	0.81069	2.081000	0.62600	0.528000	0.53228	CAT		0.498	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47127761	T	C	47127761	3	2	216	1	0	0	0	0	1	0	0	0	14131	1464	51	4	2417	4	SETD2	3	47127761	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08	15095917	47127761	150894669	10	15072											
MST1	327	broad.mit.edu	37	chr3	49723304	49723304	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	5	7	16	13	5	2	0	2	0	1	0	3	2	2	2	1	4	4	1	1	4	0	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Silent_p.P413P|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						uc003cxg.3																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1237-1239)ccG>ccA		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.							56	53	54					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_uc011bcs.1_Missense_Mutation_p.R452H	p.P413P	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1311	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			T	49723304	C	T	49723304	1	4	216	0	1	0	0	0	0	0	0	0	9890	755	27	1		1	MST1	3	49723304	IGR	SNP	C	TCGA-28-5216-01A-01D-1486-08	2595543	49723304	148299126	11	15073											
SLMAP	7871	broad.mit.edu	37	chr3	57898233	57898233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccttcatcaagcagcaGcaaaggttgcctctgagcgg	9	9	11	12	1	3	1	2	1	1	0	4	1	4	1	2	2	6	5	2	2	2	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:57898233G>T	ENST00000428312.1	+	18	1868	c.1774G>T	c.(1774-1776)Gca>Tca	p.A592S	SLMAP_ENST00000494088.1_Missense_Mutation_p.A85S|SLMAP_ENST00000295952.3_Missense_Mutation_p.A575S|SLMAP_ENST00000416870.1_Missense_Mutation_p.A85S|SLMAP_ENST00000495364.1_Missense_Mutation_p.A126S|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000442599.2_Missense_Mutation_p.A60S|SLMAP_ENST00000449503.2_Missense_Mutation_p.A554S|SLMAP_ENST00000295951.3_Missense_Mutation_p.A575S			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	592					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAGCAGCAGCAAAGGTTGC	0.483																																						uc003dje.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1774-1776)Gca>Tca		Homo sapiens sarcolemma associated protein (SLMAP), mRNA.							97	92	94					3																	57898233		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57898233G>T	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1774G>T	3.37:g.57898233G>T	ENSP00000398661:p.Ala592Ser					SLMAP_uc003djd.1_Missense_Mutation_p.A575S|SLMAP_uc003djf.1_Missense_Mutation_p.A554S|SLMAP_uc003djg.1_Missense_Mutation_p.A186S|SLMAP_uc011bez.1_Missense_Mutation_p.A60S|SLMAP_uc011bfa.1_Missense_Mutation_p.A126S|SLMAP_uc003djh.3_Missense_Mutation_p.A85S|SLMAP_uc003dji.1_Missense_Mutation_p.A126S|SLMAP_uc011bfb.1_Missense_Mutation_p.A126S|SLMAP_uc011bfc.1_Missense_Mutation_p.A85S	p.A592S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	17	1979	+			592					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1774G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.0|21.0|21.0	4.078792|4.078792|4.078792	0.76528|0.76528|0.76528	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088;ENST00000466255|ENST00000417128|ENST00000416658;ENST00000438794	T;T;T;T;T;T;T;T|.|.	0.43294|.|.	0.95;0.95;0.95;1.53;0.95;0.95;0.95;0.95|.|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	Prefoldin beta-like (1);|.|.	0.204155|.|.	0.49916|.|.	D|.|.	0.000122|.|.	T|T|T	0.47911|0.47911|0.47911	0.1471|0.1471|0.1471	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.26158|0.26158|0.26158	N|N|N	0.980049|0.980049|0.980049	B;B;B;B;B;B;B;B|.|.	0.22541|.|.	0.036;0.014;0.029;0.071;0.015;0.023;0.009;0.023|.|.	B;B;B;B;B;B;B;B|.|.	0.36092|.|.	0.217;0.013;0.087;0.167;0.087;0.012;0.011;0.029|.|.	T|T|T	0.41574|0.41574|0.41574	-0.9501|-0.9501|-0.9501	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	-0.578|-0.578|-0.578	19.0507|19.0507|19.0507	0.93043|0.93043|0.93043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	85;60;126;85;186;554;592;575|.|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.|.	.;.;.;.;.;.;SLMAP_HUMAN;.|.|.	S|H|I	575;575;85;592;554;186;60;126;85;85|175|199;129	ENSP00000295951:A575S;ENSP00000295952:A575S;ENSP00000412342:A85S;ENSP00000398661:A592S;ENSP00000412945:A554S;ENSP00000388978:A60S;ENSP00000419543:A126S;ENSP00000418218:A85S|.|.	ENSP00000295951:A575S|.|.	A|Q|S	+|+|+	1|3|2	0|2|0	SLMAP|SLMAP|SLMAP	57873273|57873273|57873273	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	5.121000|5.121000|5.121000	0.64691|0.64691|0.64691	2.584000|2.584000|2.584000	0.87258|0.87258|0.87258	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|CAG|AGC		0.483	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		T	57898233	G	T	57898233	3	4	216	1	0	0	0	0	1	0	0	0	14749	971	34	5	1789	5	SLMAP	3	57898233	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	8174929	57898233	140124197	12	15074											
ARPM1	84517	broad.mit.edu	37	chr3	169487253	169487253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcacccagccacgcccGccttgatcattcccgagccg	6	5	9	21	5	1	1	1	1	0	0	2	2	2	1	7	1	2	1	7	1	0	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:169487253G>A	ENST00000330368.2	-	1	430	c.56C>T	c.(55-57)gCg>gTg	p.A19V	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	19						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGCCACGCCCGCCTTGATCAT	0.672																																						uc003ffs.2																			0											c.(55-57)gCg>gTg		Homo sapiens actin related protein M1 (ARPM1), mRNA.							23	31	28					3																	169487253		2167	4271	6438	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169487253G>A	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.56C>T	3.37:g.169487253G>A	ENSP00000333037:p.Ala19Val					TRNA_Val_uc021xhc.1_5'Flank	p.A19V	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN			0	431	-			19					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.56C>T	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102059	0.94245	.	.	ENSG00000184378	ENST00000330368	D	0.97480	-4.4	4.4	4.4	0.53042	.	0.146689	0.31660	N	0.007279	D	0.97589	0.9210	L	0.58669	1.825	0.53688	D	0.999977	D	0.89917	1.0	D	0.63033	0.91	D	0.98281	1.0508	10	0.87932	D	0	.	16.2788	0.82658	0.0:0.0:1.0:0.0	.	19	Q9BYD9	ARPM1_HUMAN	V	19	ENSP00000333037:A19V	ENSP00000333037:A19V	A	-	2	0	AC078802.1	170969947	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	4.499000	0.60380	2.438000	0.82558	0.555000	0.69702	GCG		0.672	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		A	169487253	G	A	169487253	3	1	216	1	0	0	0	0	1	0	0	0	976	1087	38	1	1070	1	ARPM1	3	169487253	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	111589020	169487253	28535177	13	15075											
KIAA1109	84162	broad.mit.edu	37	chr4	123238013	123238013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccaaagtaatagatgatCtgaagtatgtacaatgattt	16	12	9	4	0	1	4	0	3	1	1	1	4	1	4	1	1	1	3	1	1	7	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:123238013C>G	ENST00000264501.4	+	62	11039	c.10666C>G	c.(10666-10668)Ctg>Gtg	p.L3556V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L3556V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3556V			Q2LD37	K1109_HUMAN	KIAA1109	3556					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAGATGATCTGAAGTATGT	0.328																																						uc003ieh.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(10666-10668)Ctg>Gtg		Homo sapiens KIAA1109 (KIAA1109), mRNA.							88	88	88					4																	123238013		1822	4084	5906	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123238013C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10666C>G	4.37:g.123238013C>G	ENSP00000264501:p.Leu3556Val					KIAA1109_uc003iel.1_Missense_Mutation_p.L1491V	p.L3556V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			59	10711	+			3556					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10666C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.034719|4.034719	0.75617|0.75617	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.61040|.	0.94;0.94;0.38;0.14|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.72431|0.72431	0.3459|0.3459	M|M	0.68593|0.68593	2.085|2.085	0.54753|0.54753	D|D	0.99998|0.99998	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.75484|.	0.986;0.978|.	T|T	0.71351|0.71351	-0.4619|-0.4619	10|5	0.87932|.	D|.	0|.	.|.	14.8521|14.8521	0.70306|0.70306	0.0:0.9294:0.0:0.0706|0.0:0.9294:0.0:0.0706	.|.	3556;3556|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	V|C	3556;3556;3556;239|1513	ENSP00000264501:L3556V;ENSP00000373390:L3556V;ENSP00000389925:L3556V;ENSP00000410874:L239V|.	ENSP00000264501:L3556V|.	L|S	+|+	1|2	2|0	KIAA1109|KIAA1109	123457463|123457463	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.937000|0.937000	0.57800|0.57800	4.655000|4.655000	0.61476|0.61476	2.637000|2.637000	0.89404|0.89404	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123238013	C	G	123238013	3	3	216	1	0	0	0	0	1	0	0	0	8208	912	32	5	10904	5	KIAA1109	4	123238013	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		123238013	67916263	14	15076											
KIAA1712	80817	broad.mit.edu	37	chr4	175229838	175229838	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatatttttctctatgcAgaagaaagctgtggtgattc	11	16	8	6	0	1	3	0	1	1	2	3	3	1	3	0	1	3	2	0	1	5	6			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:175229838A>G	ENST00000503780.1	+	7	921		c.e7-1		CEP44_ENST00000296519.4_Splice_Site|CEP44_ENST00000457424.2_Splice_Site|CEP44_ENST00000426172.1_Splice_Site	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa							centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TTCTCTATGCAGAAGAAAGCT	0.328																																						uc010iro.2																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.e7-2		Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.							88	89	89					4																	175229838		2203	4300	6503	SO:0001630	splice_region_variant	80817					centrosome|midbody|spindle pole		g.chr4:175229838A>G	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"KIAA1712"	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.508-1A>G	4.37:g.175229838A>G						CEP44_uc003its.2_Splice_Site|CEP44_uc003itr.3_Splice_Site_p.K170_splice	p.K170_splice	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN			7	813	+			170					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Splice_Site	SNP	ENST00000503780.1	37	c.508_splice	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537348	0.45176	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000515299;ENST00000426172;ENST00000296519	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4128	0.49935	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP44	175466413	1.000000	0.71417	0.943000	0.38184	0.743000	0.42351	4.245000	0.58734	2.114000	0.64651	0.528000	0.53228	.		0.328	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633	Intron	G	175229838	A	G	175229838	5	3	216	1	0	0	0	0	0	0	1	0	8253	202	7	4	524	4	KIAA1712	4	175229838	Splice_Site	SNP	A	TCGA-28-5216-01A-01D-1486-08	51991825	175229838	15924438	15	15077											
ZNF608	57507	broad.mit.edu	37	chr5	124080387	124080387	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttgatttgctggtctctTtgtgtgaattcccctgggga	4	18	11	8	0	1	2	0	2	1	0	3	3	2	3	2	3	1	1	2	3	1	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:124080387T>G	ENST00000306315.5	-	1	731	c.296A>C	c.(295-297)aAa>aCa	p.K99T	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	99							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCTGGTCTCTTTGTGTGAATT	0.507																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(295-297)aAa>aCa		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.							79	76	77					5																	124080387		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124080387T>G	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.296A>C	5.37:g.124080387T>G	ENSP00000307746:p.Lys99Thr					ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	p.K99T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	0	479	-		all_cancers(142;0.186)|Prostate(80;0.081)	99					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.296A>C	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170286	0.57584	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.49432	0.78	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.53110	0.1776	L	0.51422	1.61	0.40151	D	0.976947	D	0.56968	0.978	P	0.50659	0.647	T	0.57653	-0.7774	10	0.54805	T	0.06	-16.0979	15.3023	0.73962	0.0:0.0:0.0:1.0	.	99	Q9ULD9	ZN608_HUMAN	T	99	ENSP00000307746:K99T	ENSP00000307746:K99T	K	-	2	0	ZNF608	124108286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.003000	0.70701	2.158000	0.67659	0.533000	0.62120	AAA		0.507	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		G	124080387	T	G	124080387	3	3	216	1	0	0	0	0	1	0	0	0	18031	1841	64	5	4278	5	ZNF608	5	124080387	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08		124080387	56834873	16	15078											
PCDHA1	56147	broad.mit.edu	37	chr5	140166327	140166327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctagactcctgaattcgcGttttccgatagaaggagctg	10	12	10	9	3	1	3	0	1	1	2	4	5	3	4	2	1	1	2	2	1	4	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:140166327G>A	ENST00000504120.2	+	1	452	c.452G>A	c.(451-453)cGt>cAt	p.R151H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R151H|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R151H	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	151					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATTCGCGTTTTCCGATA	0.448																																						uc003lhb.2																			0		p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(451-453)cGt>cAt		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							87	97	94					5																	140166327		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140166327G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.452G>A	5.37:g.140166327G>A	ENSP00000420840:p.Arg151His					PCDHAC2_uc003lha.2_Missense_Mutation_p.R151H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R151H	p.R151H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	452	+			166			Cadherin 2.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.452G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939752	0.34189	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52983	0.64;0.64;0.64	4.13	2.16	0.27623	Cadherin (2);Cadherin-like (1);	0.814614	0.10017	N	0.726395	T	0.43122	0.1233	M	0.80183	2.485	0.09310	N	1	B;P;B	0.36753	0.146;0.568;0.414	B;B;B	0.31614	0.052;0.133;0.049	T	0.48305	-0.9047	10	0.54805	T	0.06	.	2.6662	0.05051	0.1722:0.1434:0.5374:0.147	.	151;151;151	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	H	151	ENSP00000420840:R151H;ENSP00000378129:R151H;ENSP00000367373:R151H	ENSP00000367373:R151H	R	+	2	0	PCDHA1	140146511	0.000000	0.05858	0.046000	0.18839	0.913000	0.54294	0.458000	0.21892	0.857000	0.35407	0.650000	0.86243	CGT		0.448	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140166327	G	A	140166327	3	1	216	1	0	0	0	0	1	0	0	0	11519	1145	40	1	454	1	PCDHA1	5	140166327	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	16085940	140166327	40748933	17	15079											
MYLIP	29116	broad.mit.edu	37	chr6	16141881	16141881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctttttcttgcacatcaagGaggccctcttggcaggccac	7	12	9	13	0	4	0	1	0	3	0	4	1	4	1	2	4	1	2	2	4	1	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr6:16141881G>C	ENST00000356840.3	+	3	502	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	102	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCACATCAAGGAGGCCCTCTT	0.512																																						uc003nbq.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(304-306)Gag>Cag		Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.							86	83	84					6																	16141881		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16141881G>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.304G>C	6.37:g.16141881G>C	ENSP00000349298:p.Glu102Gln					MYLIP_uc003nbr.3_5'UTR	p.E102Q	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		2	541	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	102			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.304G>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045020	0.55110	.	.	ENSG00000007944	ENST00000356840	T	0.78364	-1.17	5.33	5.33	0.75918	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.28400	0.85	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.69079	-0.5240	10	0.02654	T	1	.	19.037	0.92983	0.0:0.0:1.0:0.0	.	102	Q8WY64	MYLIP_HUMAN	Q	102	ENSP00000349298:E102Q	ENSP00000349298:E102Q	E	+	1	0	MYLIP	16249860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.413000	0.97351	2.504000	0.84457	0.563000	0.77884	GAG		0.512	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		C	16141881	G	C	16141881	3	2	216	1	0	0	0	0	1	0	0	0	10055	1175	41	5	314	5	MYLIP	6	16141881	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		16141881	154973186	18	15080											
C7orf65	401335	broad.mit.edu	37	chr7	47698593	47698593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaagcagggagctgCtatttctgttcaaggcaatc	9	10	14	8	0	2	0	1	0	1	0	3	2	2	2	0	4	3	6	0	4	4	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:47698593C>A	ENST00000408988.2	+	3	258	c.223C>A	c.(223-225)Cta>Ata	p.L75I		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	75										endometrium(1)|lung(2)	3						CAGGGAGCTGCTATTTCTGTT	0.502																																						uc010kyp.1																			0				endometrium(1)|lung(2)	3						c.(223-225)Cta>Ata		Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.							78	73	74					7																	47698593		1568	3582	5150	SO:0001583	missense	401335							g.chr7:47698593C>A		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.223C>A	7.37:g.47698593C>A	ENSP00000386198:p.Leu75Ile						p.L75I	NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN			2	258	+			75					A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	c.223C>A	CCDS43580.1	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536292	0.13188	.	.	ENSG00000221845	ENST00000408988	.	.	.	1.32	-0.795	0.10915	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	B	0.39935	0.314	T	0.14254	-1.0479	8	0.87932	D	0	.	1.8732	0.03213	0.3212:0.4509:0.0:0.2279	.	75	Q6ZTY9	CG065_HUMAN	I	75	.	ENSP00000386198:L75I	L	+	1	2	C7orf65	47665118	0.002000	0.14202	0.001000	0.08648	0.086000	0.17979	0.120000	0.15647	-0.293000	0.08986	0.561000	0.74099	CTA		0.502	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065		A	47698593	C	A	47698593	3	1	216	1	0	0	0	0	1	0	0	0	2411	796	28	5	233	5	C7orf65	7	47698593	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		47698593	111440070	19	15081											
MUC17	140453	broad.mit.edu	37	chr7	100701312	100701312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggcctcaggtaatgaCgacatcattttaaggcatgg	12	10	11	8	1	3	2	3	1	0	1	3	3	3	2	1	4	0	2	1	4	2	3	rs534194993		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:100701312C>T	ENST00000306151.4	+	13	13533	c.13469C>T	c.(13468-13470)aCg>aTg	p.T4490M	RN7SKP54_ENST00000410704.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4490					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGTAATGACGACATCATTT	0.493													C|||	1	0.000199681	0	0	5008	,	,		16188	0		0	False		,,,				2504	0.001					uc003uxp.1																			0		p.T4490T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13468-13470)aCg>aTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							102	95	98					7																	100701312		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100701312C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13469C>T	7.37:g.100701312C>T	ENSP00000302716:p.Thr4490Met					MUC17_uc010lho.1_Non-coding_Transcript	p.T4490M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			12	13522	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4490					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.13469C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.095	0.015603	0.07959	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	3.54	-4.5	0.03493	.	.	.	.	.	T	0.00637	0.0021	N	0.00686	-1.255	0.09310	N	1	B	0.19583	0.037	B	0.06405	0.002	T	0.46062	-0.9218	9	0.33940	T	0.23	.	0.0747	0.00025	0.3193:0.2058:0.1623:0.3126	.	4490	Q685J3	MUC17_HUMAN	M	4490	ENSP00000302716:T4490M	ENSP00000302716:T4490M	T	+	2	0	MUC17	100488032	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.157000	0.10085	-0.778000	0.04566	-1.769000	0.00663	ACG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100701312	C	T	100701312	3	4	216	1	0	0	0	0	1	0	0	0	9974	536	19	1	13519	1	MUC17	7	100701312	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	53002719	100701312	58437351	20	15082											
SLC26A3	1811	broad.mit.edu	37	chr7	107416977	107416977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaaaattttcactccttCtggctcatacatctgtaagg	10	15	6	10	0	5	1	2	1	3	0	6	1	6	1	1	2	1	2	1	2	4	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:107416977C>G	ENST00000340010.5	-	15	1781	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378																																						uc003ver.2																			1	Substitution - Missense(1)	p.E533K(2)|p.P532Q(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1597-1599)Gaa>Caa		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							115	108	111					7																	107416977		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416977C>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1597G>C	7.37:g.107416977C>G	ENSP00000345873:p.Glu533Gln					SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	p.E533Q	NM_000111	NP_000102	P40879	S26A3_HUMAN			14	1808	-			533			STAS.			Missense_Mutation	SNP	ENST00000340010.5	37	c.1597G>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	4.567	0.105228	0.08731	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94232	-3.38;-3.38	5.82	4.93	0.64822	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.397106	0.29948	N	0.010784	D	0.90195	0.6935	L	0.42245	1.32	0.44168	D	0.996978	B;B	0.26445	0.121;0.149	B;B	0.28553	0.047;0.091	D	0.85357	0.1105	10	0.36615	T	0.2	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	498;533	G5E9U3;P40879	.;S26A3_HUMAN	Q	498;533	ENSP00000415817:E498Q;ENSP00000345873:E533Q	ENSP00000345873:E533Q	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		G	107416977	C	G	107416977	3	3	216	1	0	0	0	0	1	0	0	0	14518	922	32	5	725	5	SLC26A3	7	107416977	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	6715665	107416977	51721686	21	15083											
OR6B1	135946	broad.mit.edu	37	chr7	143701298	143701298	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacctgtccttcttggAgacctggtacatctctgtga	7	12	10	12	0	2	2	0	1	2	1	4	3	3	2	4	3	2	1	4	3	2	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:143701298A>T	ENST00000408922.2	+	1	277	c.209A>T	c.(208-210)gAg>gTg	p.E70V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTTCTTGGAGACCTGGTAC	0.458																																						uc003wdt.1																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(208-210)gAg>gTg		Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.							128	130	129					7																	143701298		2101	4264	6365	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701298A>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.209A>T	7.37:g.143701298A>T	ENSP00000386151:p.Glu70Val						p.E70V	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			0	209	+	Melanoma(164;0.0783)		70					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.209A>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303077	0.81136	.	.	ENSG00000221813	ENST00000408922	T	0.00448	7.38	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	U	0.002173	T	0.01940	0.0061	H	0.95780	3.72	0.50632	D	0.999887	D	0.89917	1.0	D	0.87578	0.998	T	0.13656	-1.0501	10	0.87932	D	0	.	12.9393	0.58333	1.0:0.0:0.0:0.0	.	70	O95007	OR6B1_HUMAN	V	70	ENSP00000386151:E70V	ENSP00000386151:E70V	E	+	2	0	OR6B1	143332231	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	4.212000	0.58514	2.154000	0.67381	0.455000	0.32223	GAG		0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			T	143701298	A	T	143701298	3	4	216	1	0	0	0	0	1	0	0	0	11187	304	11	5	211	5	OR6B1	7	143701298	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	36284321	143701298	15437365	22	15084											
RUNX1T1	862	broad.mit.edu	37	chr8	93027036	93027036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtaggagaatggctcGtgccattagttactgtcaag	10	11	13	7	1	1	1	1	0	0	1	2	2	1	1	1	3	2	4	1	3	5	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:93027036G>A	ENST00000523629.1	-	4	693	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T53M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T43M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T43M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T43M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T80M|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T53M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T43M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T91M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	80					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGAATGGCTCGTGCCATTAGT	0.473																																						uc022axs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(415-417)aCg>aTg		Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.							39	43	42					8																	93027036		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93027036G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.239C>T	8.37:g.93027036G>A	ENSP00000428543:p.Thr80Met					RUNX1T1_uc003yfc.2_Missense_Mutation_p.T53M|RUNX1T1_uc010mam.3_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yfd.3_Missense_Mutation_p.T80M|RUNX1T1_uc022axo.1_Missense_Mutation_p.T80M|RUNX1T1_uc010mao.3_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.2_Missense_Mutation_p.T91M|RUNX1T1_uc022axp.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axq.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axr.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axt.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axu.1_Missense_Mutation_p.T60M|RUNX1T1_uc022axv.1_Missense_Mutation_p.T80M|RUNX1T1_uc003yfb.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.2_Missense_Mutation_p.T43M	p.T139M	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	603	-			80			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.416C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312525	0.60414	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518832	T;T;T;T;T;T;T;T;T;T;T	0.49139	1.4;1.41;1.4;1.43;1.43;1.43;1.37;1.41;0.83;0.79;1.42	6.05	6.05	0.98169	.	0.184062	0.56097	D	0.000025	T	0.43831	0.1265	N	0.03608	-0.345	0.58432	D	0.999994	B;B;D;B;D	0.56968	0.146;0.226;0.963;0.135;0.978	B;B;P;B;P	0.56343	0.012;0.019;0.563;0.019;0.796	T	0.53287	-0.8460	10	0.40728	T	0.16	-10.7425	20.6013	0.99457	0.0:0.0:1.0:0.0	.	91;91;53;80;53	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	M	80;53;80;43;43;43;91;53;43;80;43;80;43;80;80;53;43;43;80;80;53;53;80;80;43	ENSP00000428543:T80M;ENSP00000379520:T53M;ENSP00000265814:T80M;ENSP00000353504:T43M;ENSP00000390137:T43M;ENSP00000428742:T43M;ENSP00000402257:T91M;ENSP00000430728:T53M;ENSP00000429728:T43M;ENSP00000431094:T80M;ENSP00000427763:T43M	ENSP00000265814:T80M	T	-	2	0	RUNX1T1	93096212	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.574000	0.60900	2.878000	0.98634	0.650000	0.86243	ACG		0.473	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		A	93027036	G	A	93027036	3	1	216	1	0	0	0	0	1	0	0	0	13747	1145	40	1	1611	1	RUNX1T1	8	93027036	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		93027036	53336986	23	15085											
KCNK9	51305	broad.mit.edu	37	chr8	140630517	140630517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctaaacggacttccggCgtttcatcagcctctggtgg	8	10	10	13	3	3	0	2	0	1	0	4	1	4	1	3	4	2	1	3	4	2	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:140630517C>T	ENST00000520439.1	-	2	1172	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.R370H	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	370					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GGACTTCCGGCGTTTCATCAG	0.453																																						uc003yvf.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(1108-1110)cGc>cAc		Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.							118	114	115					8																	140630517		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630517C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.1109G>A	8.37:g.140630517C>T	ENSP00000430676:p.Arg370His					KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_Non-coding_Transcript	p.R370H	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	1173	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	370					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.1109G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520749	0.44866	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.35789	1.29;1.29;1.29	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.75264	2.295	0.33991	D	0.649134	D	0.89917	1.0	D	0.91635	0.999	T	0.71652	-0.4528	10	0.87932	D	0	.	12.9203	0.58228	0.162:0.838:0.0:0.0	.	370	Q9NPC2	KCNK9_HUMAN	H	370	ENSP00000429847:R370H;ENSP00000302166:R370H;ENSP00000430676:R370H	ENSP00000302166:R370H	R	-	2	0	KCNK9	140699699	0.925000	0.31364	0.046000	0.18839	0.317000	0.28152	7.093000	0.76937	2.684000	0.91462	0.563000	0.77884	CGC		0.453	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		T	140630517	C	T	140630517	3	4	216	1	0	0	0	0	1	0	0	0	8072	768	27	1	19	1	KCNK9	8	140630517	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	47603481	140630517	5733505	24	15086											
PLEC	5339	broad.mit.edu	37	chr8	144992145	144992145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatggcctggtacacCgagagccgttccttggtggc	5	12	12	12	2	2	1	1	0	1	1	3	2	3	1	4	4	2	2	4	4	1	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:144992145C>T	ENST00000322810.4	-	32	12424	c.12255G>A	c.(12253-12255)tcG>tcA	p.S4085S	PLEC_ENST00000357649.2_Silent_p.S3952S|PLEC_ENST00000356346.3_Silent_p.S3934S|PLEC_ENST00000345136.3_Silent_p.S3948S|PLEC_ENST00000354589.3_Silent_p.S3948S|PLEC_ENST00000398774.2_Silent_p.S3916S|PLEC_ENST00000436759.2_Silent_p.S3975S|PLEC_ENST00000527096.1_Silent_p.S3971S|PLEC_ENST00000354958.2_Silent_p.S3926S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4085	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGGTACACCGAGAGCCGTT	0.612																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12253-12255)tcG>tcA		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							26	31	29					8																	144992145		2111	4222	6333	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992145C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12255G>A	8.37:g.144992145C>T						PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	p.S4085S	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	12425	-			4085			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12255G>A	CCDS43772.1																																																																																				0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144992145	C	T	144992145	2	4	216	1	0	0	0	0	0	0	0	1	12052	639	23	2		2	PLEC	8	144992145	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	4361628	144992145	1371877	25	15087											
PTEN	5728	broad.mit.edu	37	chr10	89653826	89653826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatttcctgcagaaagaCttgaaggcgtatacaggaac	13	9	12	7	1	0	3	0	1	0	2	1	5	1	5	1	3	3	2	1	3	5	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:89653826C>G	ENST00000371953.3	+	2	1481	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	42	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGAAAGACTTGAAGGCGT	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		47	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)	p.0?(37)|p.?(8)|p.L42R(6)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L42P(1)|p.R41fs*2(1)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(124-126)Ctt>Gtt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							112	113	113					10																	89653826		2203	4295	6498	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653826C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.124C>G	10.37:g.89653826C>G	ENSP00000361021:p.Leu42Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L42V	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1156	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	42		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.124C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452838	0.84209	.	.	ENSG00000171862	ENST00000371953	D	0.98617	-5.03	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	L	0.39245	1.2	0.80722	D	1	P	0.38020	0.615	B	0.29267	0.1	D	0.96059	0.9037	9	.	.	.	-8.6179	17.4682	0.87639	0.0:1.0:0.0:0.0	.	42	P60484	PTEN_HUMAN	V	42	ENSP00000361021:L42V	.	L	+	1	0	PTEN	89643806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.453000	0.66645	2.421000	0.82119	0.655000	0.94253	CTT		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89653826	C	G	89653826	3	3	216	1	0	0	0	0	1	0	0	0	12738	565	20	5	130	5	PTEN	10	89653826	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		89653826	45880921	26	15088											
SLC18A2	6571	broad.mit.edu	37	chr10	119014867	119014867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctggccgccctggtactCttggatggaggtgagtgagt	5	11	17	8	1	1	2	0	2	1	0	1	4	1	4	2	5	2	2	2	5	1	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:119014867C>T	ENST00000298472.5	+	7	923	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	260					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCCTGGTACTCTTGGATGGAG	0.627																																						uc001ldd.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(778-780)ctC>ctT		Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						56	54	55					10																	119014867		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119014867C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.780C>T	10.37:g.119014867C>T						SLC18A2_uc009xyy.2_Silent_p.L57L	p.L260L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	6	943	+		Colorectal(252;0.19)	260					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.780C>T	CCDS7599.1																																																																																				0.627	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		T	119014867	C	T	119014867	2	4	216	1	0	0	0	0	0	0	0	1	14426	900	32	3		3	SLC18A2	10	119014867	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	29361041	119014867	16519880	27	15089											
OR51E1	143503	broad.mit.edu	37	chr11	4673967	4673967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttctttgcatgctttcaGgcattgacatcctcatctcc	7	17	5	12	0	4	1	2	1	2	0	6	1	5	1	2	1	2	3	2	1	1	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:4673967G>C	ENST00000396952.5	+	2	861	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGCTTTCAGGCATTGACAT	0.453																																						uc021qcq.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(211-213)Ggc>Cgc		Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.							163	126	138					11																	4673967		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4673967G>C	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.211G>C	11.37:g.4673967G>C	ENSP00000380155:p.Gly71Arg					OR51E1_uc001lzi.4_Missense_Mutation_p.G71R	p.G71R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	211	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	70					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.211G>C	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890106	0.33348	.	.	ENSG00000180785	ENST00000396952	T	0.00547	6.66	4.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.872339	0.09785	N	0.756093	T	0.01092	0.0036	M	0.69523	2.12	0.09310	N	1	P	0.34909	0.475	B	0.41412	0.356	T	0.43925	-0.9361	10	0.62326	D	0.03	.	11.7118	0.51628	0.1017:0.0:0.8983:0.0	.	70	Q8TCB6	O51E1_HUMAN	R	71	ENSP00000380155:G71R	ENSP00000380155:G71R	G	+	1	0	OR51E1	4630543	0.000000	0.05858	1.000000	0.80357	0.886000	0.51366	0.014000	0.13333	2.413000	0.81919	0.655000	0.94253	GGC		0.453	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		C	4673967	G	C	4673967	3	2	216	1	0	0	0	0	1	0	0	0	11094	1000	35	5	213	5	OR51E1	11	4673967	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		4673967	130332549	28	15090											
OR4B1	119765	broad.mit.edu	37	chr11	48238725	48238725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcctatgattgctacGtggccatttgcaagcctctt	7	14	10	10	1	1	2	0	2	1	0	1	2	1	2	3	2	4	2	3	2	3	5	rs150231573	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:48238725G>A	ENST00000309562.2	+	1	382	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGCTACGTGGCCATTTG	0.473																																						uc010rhs.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(364-366)Gtg>Atg		Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.		G	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	136	130	132		364	5.2	1	11	dbSNP_134	132	2,8594	2.2+/-6.3	0,2,4296	yes	missense	OR4B1	NM_001005470.1	21	0,3,6496	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	122/310	48238725	3,12995	2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238725G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.364G>A	11.37:g.48238725G>A	ENSP00000311605:p.Val122Met						p.V122M	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			0	364	+			122					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.364G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194819	0.58017	2.27E-4	2.33E-4	ENSG00000175619	ENST00000309562	T	0.00366	7.79	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.150388	0.31697	N	0.007213	T	0.00608	0.0020	L	0.58925	1.835	0.37193	D	0.904023	D	0.55800	0.973	P	0.60173	0.87	T	0.76860	-0.2803	10	0.62326	D	0.03	.	9.8754	0.41200	0.0934:0.0:0.9066:0.0	.	122	Q8NGF8	OR4B1_HUMAN	M	122	ENSP00000311605:V122M	ENSP00000311605:V122M	V	+	1	0	OR4B1	48195301	0.356000	0.24930	0.978000	0.43139	0.381000	0.30169	0.648000	0.24828	2.428000	0.82296	0.385000	0.25706	GTG		0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		A	48238725	G	A	48238725	3	1	216	1	0	0	0	0	1	0	0	0	11044	1145	40	1	366	1	OR4B1	11	48238725	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	43564758	48238725	86767791	29	15091											
MS4A14	84689	broad.mit.edu	37	chr11	60164081	60164081	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaggacagaagggcAactcacgtcatcactataaa	16	6	7	12	1	3	1	3	0	0	1	4	2	4	2	1	2	1	1	1	2	5	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:60164081A>T	ENST00000300187.6	+	1	307	c.30A>T	c.(28-30)gcA>gcT	p.A10A	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Silent_p.A10A|MS4A14_ENST00000395005.2_Silent_p.A10A	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	10						integral component of membrane (GO:0016021)		p.A10D(1)|p.A10A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAGAAGGGCAACTCACGTCA	0.458																																						uc001npj.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.A10D(2)|p.A10A(2)|p.A10E(1)	lung(2)	autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(28-30)gcA>gcT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							123	97	106					11																	60164081		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164081A>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.30A>T	11.37:g.60164081A>T						MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Silent_p.A10A|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	p.A10A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			0	595	+			10					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.30A>T	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			T	60164081	A	T	60164081	2	4	216	1	0	0	0	0	0	0	0	1	9858	117	5	5		5	MS4A14	11	60164081	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	11925356	60164081	74842435	30	15092											
P2RY2	5029	broad.mit.edu	37	chr11	72946285	72946285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgaggactctaggCggacagagtccacgccggct	9	5	15	12	3	1	2	0	1	1	1	2	4	2	4	2	4	1	3	2	4	1	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:72946285C>T	ENST00000311131.2	+	3	1548	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	P2RY2_ENST00000393596.2_Missense_Mutation_p.R361W|P2RY2_ENST00000393597.2_Missense_Mutation_p.R361W	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	361					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACTCTAGGCGGACAGAGTC	0.582																																						uc021qna.1																			0		p.R361P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1081-1083)Cgg>Tgg		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)						89	93	92					11																	72946285		2171	4244	6415	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946285C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1081C>T	11.37:g.72946285C>T	ENSP00000310305:p.Arg361Trp					P2RY2_uc001otk.3_Missense_Mutation_p.R361W|P2RY2_uc001otj.3_Missense_Mutation_p.R361W|P2RY2_uc001otl.3_Missense_Mutation_p.R361W	p.R361W	NM_176072	NP_788086	P41231	P2RY2_HUMAN			0	1081	+			361					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.1081C>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207846	0.09704	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.73681	-0.77;-0.77;-0.77	3.87	0.74	0.18330	.	1.032440	0.07787	N	0.954254	T	0.48205	0.1487	N	0.08118	0	0.09310	N	1	P	0.51537	0.946	B	0.33521	0.165	T	0.43893	-0.9363	10	0.87932	D	0	.	7.096	0.25309	0.1855:0.4537:0.3608:0.0	.	361	P41231	P2RY2_HUMAN	W	361	ENSP00000377222:R361W;ENSP00000310305:R361W;ENSP00000377221:R361W	ENSP00000310305:R361W	R	+	1	2	P2RY2	72623933	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.152000	0.10159	0.171000	0.19730	0.561000	0.74099	CGG		0.582	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72946285	C	T	72946285	3	4	216	1	0	0	0	0	1	0	0	0	11352	759	27	1	1083	1	P2RY2	11	72946285	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	12782204	72946285	62060231	31	15093											
GDPD5	81544	broad.mit.edu	37	chr11	75160035	75160035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccatgggggccccgCggtggccaatgagagcaggc	8	4	15	14	2	1	1	1	1	0	1	1	2	1	1	4	5	1	1	4	5	1	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:75160035C>T	ENST00000336898.3	-	9	1538	c.701G>A	c.(700-702)cGc>cAc	p.R234H	GDPD5_ENST00000529721.1_Missense_Mutation_p.R234H|GDPD5_ENST00000526177.1_Missense_Mutation_p.R96H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.R115H|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.R115H	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	234	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.R234H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGGGCCCCGCGGTGGCCAAT	0.607																																						uc001owo.4																			1	Substitution - Missense(1)	p.R234H(2)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(700-702)cGc>cAc		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.							46	48	48					11																	75160035		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160035C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.701G>A	11.37:g.75160035C>T	ENSP00000337972:p.Arg234His					GDPD5_uc001owp.4_Missense_Mutation_p.R234H|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.R96H|GDPD5_uc009yud.3_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	p.R234H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			9	1238	-			234			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.701G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041352	0.93685	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000376282	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.27	5.27	0.74061	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.055956	0.64402	D	0.000001	D	0.82595	0.5071	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.97;0.985	D	0.88730	0.3236	10	0.87932	D	0	-28.3253	16.4369	0.83878	0.0:1.0:0.0:0.0	.	96;115;234	Q8WTR4-3;Q8WTR4-2;Q8WTR4	.;.;GDPD5_HUMAN	H	96;115;234;234;115	ENSP00000434050:R96H;ENSP00000437049:R115H;ENSP00000433214:R234H;ENSP00000337972:R234H;ENSP00000365459:R115H	ENSP00000337972:R234H	R	-	2	0	GDPD5	74837683	1.000000	0.71417	0.966000	0.40874	0.880000	0.50808	5.303000	0.65738	2.758000	0.94735	0.561000	0.74099	CGC		0.607	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		T	75160035	C	T	75160035	3	4	216	1	0	0	0	0	1	0	0	0	6327	768	27	1	1152	1	GDPD5	11	75160035	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	2213750	75160035	59846481	32	15094											
USP35	57558	broad.mit.edu	37	chr11	77920718	77920718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcctcctgagcgctGtcgccgccgccgcctgggct	1	9	11	20	5	0	1	0	1	0	0	4	1	3	1	7	1	1	2	7	1	0	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:77920718G>A	ENST00000529308.1	+	10	2078	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	USP35_ENST00000530267.1_Missense_Mutation_p.C174Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.C337Y|USP35_ENST00000441408.2_Missense_Mutation_p.C192Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	606	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGAGCGCTGTCGCCGCCGC	0.657																																						uc021qny.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1816-1818)tGt>tAt		Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.							47	53	51					11																	77920718		2020	4151	6171	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920718G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1817G>A	11.37:g.77920718G>A	ENSP00000431876:p.Cys606Tyr					USP35_uc001oze.2_Missense_Mutation_p.C362Y|USP35_uc001ozc.3_Missense_Mutation_p.C174Y|USP35_uc010rsp.2_Missense_Mutation_p.C38Y|USP35_uc001ozd.3_Missense_Mutation_p.C217Y|USP35_uc001ozf.3_Missense_Mutation_p.C337Y	p.C606Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	2173	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		606						Missense_Mutation	SNP	ENST00000529308.1	37	c.1817G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	3.089	-0.187367	0.06299	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.12255	3.22;3.47;2.7;3.36	4.89	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.705821	0.12300	N	0.481191	T	0.07863	0.0197	N	0.22421	0.69	0.20489	N	0.999899	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.42327	-0.9458	10	0.15499	T	0.54	-3.3421	5.1508	0.15009	0.2466:0.1515:0.6018:0.0	.	606;192	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	174;606;192;337	ENSP00000435468:C174Y;ENSP00000431876:C606Y;ENSP00000400825:C192Y;ENSP00000434942:C337Y	ENSP00000400825:C192Y	C	+	2	0	USP35	77598366	0.996000	0.38824	0.774000	0.31636	0.849000	0.48306	2.029000	0.41098	0.661000	0.30985	0.586000	0.80456	TGT		0.657	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		A	77920718	G	A	77920718	3	1	216	1	0	0	0	0	1	0	0	0	17063	1377	48	3	1851	3	USP35	11	77920718	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	2760683	77920718	57085798	33	15095											
HEPHL1	341208	broad.mit.edu	37	chr11	93803618	93803618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagggtcaacagaggcGctactttatagcagctgaaa	14	8	12	7	1	1	3	1	2	0	1	1	4	1	3	0	2	4	3	0	2	6	4	rs200398960		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:93803618G>A	ENST00000315765.9	+	6	1150	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	381	Plastocyanin-like 3.		R -> C (in dbSNP:rs12291622).		copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAACAGAGGCGCTACTTTATA	0.443																																						uc001pep.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1141-1143)cGc>cAc		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.		G	HIS/ARG	0,3690		0,0,1845	52	48	49		1142	-0.3	0.7	11		49	4,8174		0,4,4085	yes	missense	HEPHL1	NM_001098672.1	29	0,4,5930	AA,AG,GG		0.0489,0.0,0.0337	benign	381/1160	93803618	4,11864	1845	4089	5934	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93803618G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1142G>A	11.37:g.93803618G>A	ENSP00000313699:p.Arg381His					AF086184_uc001pen.1_Intron	p.R381H	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			5	1299	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	381		R -> C (in dbSNP:rs12291622).	Plastocyanin-like 3.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1142G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	1.879	-0.458357	0.04508	0.0	4.89E-4	ENSG00000181333	ENST00000315765	D	0.98876	-5.2	5.7	-0.323	0.12709	Cupredoxin (2);	0.680056	0.16003	N	0.234209	D	0.94221	0.8145	N	0.13299	0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.86739	0.1953	10	0.25106	T	0.35	.	10.4347	0.44428	0.3591:0.0:0.6409:0.0	.	381	Q6MZM0	HPHL1_HUMAN	H	381	ENSP00000313699:R381H	ENSP00000313699:R381H	R	+	2	0	HEPHL1	93443266	0.000000	0.05858	0.737000	0.30932	0.849000	0.48306	-0.778000	0.04664	-0.352000	0.08237	0.650000	0.86243	CGC		0.443	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93803618	G	A	93803618	3	1	216	1	0	0	0	0	1	0	0	0	7055	1087	38	1	1164	1	HEPHL1	11	93803618	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	15882900	93803618	41202898	34	15096											
FUT4	2526	broad.mit.edu	37	chr11	94278241	94278244	+	Frame_Shift_Del	DEL	CAAC	CAAC	-																															agcctggcaagtaacctcttCaactggacgctctcctaccg																										TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:94278241_94278244delCAAC	ENST00000358752.2	+	1	1225_1228	c.942_945delCAAC	c.(940-945)ttcaacfs	p.FN314fs	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	314					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTAACCTCTTCAACTGGACGCTCT	0.681																																						uc001pez.3																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(940-945)ttcaacfs		Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.																																				SO:0001589	frameshift_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278241_94278244delCAAC		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.942_945delCAAC	11.37:g.94278241_94278244delCAAC	ENSP00000351602:p.Phe314fs					PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	p.F314fs	NM_002033	NP_002024	P22083	FUT4_HUMAN			0	1225_1228	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	314					B2RMS0	Frame_Shift_Del	DEL	ENST00000358752.2	37	c.942_945delCAAC	CCDS8301.1																																																																																				0.681	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		-	94278244	CAAC	-	94278241	7	5	216	1	0	1	0	1	0	0	0	0	6106	825	29	0	944	0	FUT4	11	94278241	Frame_Shift_Del	DEL	CAAC	TCGA-28-5216-01A-01D-1486-08	474623	94278241	40728275	35	15097											
SOX5	6660	broad.mit.edu	37	chr12	24048786	24048786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcttgcgtcagcagagAaactggctgaaattcctcag	11	10	10	10	1	3	2	2	1	1	1	5	3	4	2	1	1	3	2	1	1	2	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:24048786A>G	ENST00000451604.2	-	2	312	c.211T>C	c.(211-213)Tct>Cct	p.S71P	SOX5_ENST00000541536.1_Missense_Mutation_p.S58P|SOX5_ENST00000309359.1_Missense_Mutation_p.S58P|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000541847.1_Missense_Mutation_p.S61P|SOX5_ENST00000546136.1_Missense_Mutation_p.S58P|SOX5_ENST00000381381.2_Missense_Mutation_p.S58P|SOX5_ENST00000545921.1_Missense_Mutation_p.S61P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	71					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCAGCAGAGAAACTGGCTGA	0.483																																						uc001rfw.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(211-213)Tct>Cct		Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.							232	225	227					12																	24048786		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24048786A>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.211T>C	12.37:g.24048786A>G	ENSP00000398273:p.Ser71Pro					SOX5_uc001rfx.3_Missense_Mutation_p.S58P|SOX5_uc001rfy.3_Missense_Mutation_p.S58P|SOX5_uc010siv.2_Missense_Mutation_p.S58P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.3_Intron	p.S71P	NM_006940	NP_694534	P35711	SOX5_HUMAN			1	313	-			71					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.211T>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089730	0.36855	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.97480	-4.37;-4.37;-4.4;-4.37;-4.4;-4.37	5.79	4.65	0.58169	.	0.221307	0.42053	D	0.000775	D	0.96084	0.8724	M	0.74258	2.255	0.42680	D	0.993543	B;P	0.37330	0.0;0.59	B;B	0.39971	0.0;0.315	D	0.94232	0.7477	10	0.34782	T	0.22	.	11.5995	0.50995	0.9307:0.0:0.0693:0.0	.	58;71	P35711-4;P35711	.;SOX5_HUMAN	P	58;58;58;71;58;61;61;58	ENSP00000437487:S58P;ENSP00000308927:S58P;ENSP00000370788:S58P;ENSP00000398273:S71P;ENSP00000441973:S58P;ENSP00000443520:S61P	ENSP00000308927:S58P	S	-	1	0	SOX5	23940053	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.863000	0.56016	1.031000	0.39867	0.528000	0.53228	TCT		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		G	24048786	A	G	24048786	3	3	216	1	0	0	0	0	1	0	0	0	14954	246	9	4	2146	4	SOX5	12	24048786	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		24048786	109803109	36	15098											
OR8S1	341568	broad.mit.edu	37	chr12	48919470	48919470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctccttgggctgtctgCcgaccccaacatccgggctc	4	9	9	19	2	1	0	0	0	1	0	5	1	4	0	7	2	2	2	7	2	1	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:48919470C>T	ENST00000310194.1	+	1	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGCTGTCTGCCGACCCCAAC	0.512																																						uc010slu.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(55-57)gCc>gTc		Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.							120	128	125					12																	48919470		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919470C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.56C>T	12.37:g.48919470C>T	ENSP00000310632:p.Ala19Val						p.A19V	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			0	56	+			19						Missense_Mutation	SNP	ENST00000310194.1	37	c.56C>T	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392732	0.11638	.	.	ENSG00000197376	ENST00000310194	T	0.00438	7.42	5.02	-8.25	0.01025	.	1.480890	0.04627	N	0.403005	T	0.00210	0.0006	N	0.21545	0.675	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.45011	-0.9290	10	0.62326	D	0.03	-0.0339	0.5423	0.00647	0.4101:0.1719:0.1873:0.2307	.	19	Q8NH09	OR8S1_HUMAN	V	19	ENSP00000310632:A19V	ENSP00000310632:A19V	A	+	2	0	OR8S1	47205737	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.833000	0.01695	-1.340000	0.02227	-0.141000	0.14075	GCC		0.512	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			T	48919470	C	T	48919470	3	4	216	1	0	0	0	0	1	0	0	0	11246	739	26	3	58	3	OR8S1	12	48919470	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	24870684	48919470	84932425	37	15099											
ADCY6	112	broad.mit.edu	37	chr12	49177053	49177053	+	Silent	SNP	G	G	T																															cgaggggggcccgcaggggtGgggctgggtggctctgcatc																										TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177053G>T	ENST00000307885.4	-	1	859	c.165C>A	c.(163-165)ccC>ccA	p.P55P	ADCY6_ENST00000357869.3_Silent_p.P55P|ADCY6_ENST00000550422.1_Silent_p.P55P	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	55					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGCAGGGGTGGGGCTGGGTG	0.726																																						uc001rsh.4																			0		p.P55A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(163-165)ccC>ccA		Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.							12	15	14					12																	49177053		2190	4276	6466	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49177053G>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.165C>A	12.37:g.49177053G>T						ADCY6_uc001rsi.4_Silent_p.P55P|ADCY6_uc001rsj.4_Silent_p.P55P	p.P55P	NM_015270	NP_056085	O43306	ADCY6_HUMAN			0	825	-			55					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.165C>A	CCDS8767.1																																																																																				0.726	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		T	49177053	G	T	49177053	2	4	216	1	0	0	0	0	0	0	0	1	298	1335	47	5		5	ADCY6	12	49177053	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	257583	49177053	84674842	38	15100	18	2									
ADCY6	112	broad.mit.edu	37	chr12	49177063	49177063	+	Missense_Mutation	SNP	G	G	A																															ccgcaggggtggggctgggtGgctctgcatcccggaggcag																										TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177063G>A	ENST00000307885.4	-	1	849	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADCY6_ENST00000357869.3_Missense_Mutation_p.P52L|ADCY6_ENST00000550422.1_Missense_Mutation_p.P52L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	52					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCTGGGTGGCTCTGCATC	0.716																																						uc001rsh.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(154-156)cCa>cTa		Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.							14	17	16					12																	49177063		2199	4294	6493	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49177063G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.155C>T	12.37:g.49177063G>A	ENSP00000311405:p.Pro52Leu					ADCY6_uc001rsi.4_Missense_Mutation_p.P52L|ADCY6_uc001rsj.4_Missense_Mutation_p.P52L	p.P52L	NM_015270	NP_056085	O43306	ADCY6_HUMAN			0	815	-			52					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.155C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961441	0.34565	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78364	-1.17;-1.17;-1.17	5.13	5.13	0.70059	.	0.192856	0.44688	D	0.000439	T	0.57829	0.2080	N	0.14661	0.345	0.48901	D	0.999726	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.53344	-0.8452	10	0.22109	T	0.4	.	7.6114	0.28133	0.1726:0.0:0.8274:0.0	.	52;52	O43306-2;O43306	.;ADCY6_HUMAN	L	52	ENSP00000350536:P52L;ENSP00000446730:P52L;ENSP00000311405:P52L	ENSP00000311405:P52L	P	-	2	0	ADCY6	47463330	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	3.832000	0.55783	2.667000	0.90743	0.561000	0.74099	CCA		0.716	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		A	49177063	G	A	49177063	3	1	216	1	0	0	0	0	1	0	0	0	298	1348	47	3	3435	3	ADCY6	12	49177063	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	10	49177063	84674832	39	15101	18	2									
CEP290	80184	broad.mit.edu	37	chr12	88505570	88505570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcttccggtaagctgAtcaacttgggctttcaaatg	9	15	8	9	1	4	1	3	1	1	0	5	1	5	1	1	2	2	3	1	2	3	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:88505570A>G	ENST00000552810.1	-	21	2461	c.2118T>C	c.(2116-2118)gaT>gaC	p.D706D	CEP290_ENST00000309041.7_Silent_p.D708D|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	706					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGGTAAGCTGATCAACTTGGG	0.368																																						uc001tar.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(2116-2118)gaT>gaC		Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.							52	50	51					12																	88505570		1806	4071	5877	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88505570A>G	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2118T>C	12.37:g.88505570A>G						CEP290_uc001tat.3_Silent_p.D499D|CEP290_uc009zsl.1_Non-coding_Transcript	p.D706D	NM_025114	NP_079390	O15078	CE290_HUMAN			20	2462	-			706					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.2118T>C	CCDS55858.1																																																																																				0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		G	88505570	A	G	88505570	2	3	216	1	0	0	0	0	0	0	0	1	3253	330	12	4		4	CEP290	12	88505570	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	39328507	88505570	45346325	40	15102											
ARL1	400	broad.mit.edu	37	chr12	101796696	101796696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaatttaaggtttttgtaCgtcaccgtctctacattaaa	11	16	7	7	2	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	6	7	rs375724509		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:101796696C>T	ENST00000261636.8	-	3	345	c.171G>A	c.(169-171)acG>acA	p.T57T	ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000536227.1_Silent_p.T40T|ARL1_ENST00000539055.1_Silent_p.T11T|ARL1_ENST00000551671.1_Silent_p.T57T|ARL1_ENST00000551828.1_Silent_p.T40T|ARL1_ENST00000551688.1_Intron	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	57					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.T57T(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GGTTTTTGTACGTCACCGTCT	0.358																																						uc001tib.3																			1	Substitution - coding silent(1)	p.T57T(1)	large_intestine(1)	central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(169-171)acG>acA		Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.		C		1,3651		0,1,1825	139	131	134		171	0.1	1	12		134	0,8172		0,0,4086	no	coding-synonymous	ARL1	NM_001177.4		0,1,5911	TT,TC,CC		0.0,0.0274,0.0085		57/182	101796696	1,11823	1826	4086	5912	SO:0001819	synonymous_variant	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101796696C>T	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"ADP-ribosylation factors-like", "ADP-ribosylation factors"	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.171G>A	12.37:g.101796696C>T						ARL1_uc010svn.2_Silent_p.T11T|ARL1_uc010svo.2_Non-coding_Transcript	p.T57T	NM_001177	NP_001168	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	2	320	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	57					B4DWW1|P80417|Q53XB1	Silent	SNP	ENST00000261636.8	37	c.171G>A	CCDS44958.1																																																																																				0.358	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		T	101796696	C	T	101796696	2	4	216	1	0	0	0	0	0	0	0	1	925	523	19	1		1	ARL1	12	101796696	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	13291126	101796696	32055199	41	15103											
SACS	26278	broad.mit.edu	37	chr13	23911703	23911703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggcaaaaccaaaggatgCccctccaaggaacaaggaat	17	4	10	10	0	0	0	0	0	0	0	1	4	1	3	4	4	3	1	4	4	7	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr13:23911703C>T	ENST00000382292.3	-	9	6585	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_ENST00000402364.1_Silent_p.G1354G|SACS_ENST00000382298.3_Silent_p.G2104G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2104					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAAAGGATGCCCCTCCAAGG	0.403																																						uc001uon.2																			0		p.Q2104E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6310-6312)ggG>ggA		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							61	62	62					13																	23911703		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911703C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6312G>A	13.37:g.23911703C>T						SACS_uc001uoo.2_Silent_p.G1957G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G2104G	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	6901	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2104					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.6312G>A	CCDS9300.2																																																																																				0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23911703	C	T	23911703	2	4	216	1	0	0	0	0	0	0	0	1	13804	726	26	3		3	SACS	13	23911703	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		23911703	91258175	42	15104											
HEATR5A	25938	broad.mit.edu	37	chr14	31816973	31816973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacatcaggagaagtgCtgtcctgcgccaaagtataa	12	8	10	11	1	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	4	2	rs569072683		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:31816973C>T	ENST00000389961.3	-	18	2830	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HEATR5A_ENST00000439348.1_Missense_Mutation_p.S944N|HEATR5A_ENST00000543095.2_Missense_Mutation_p.S950N|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S950N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S657N			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	944										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGAGAAGTGCTGTCCTGCGC	0.383													C|||	1	0.000199681	0	0	5008	,	,		17779	0		0	False		,,,				2504	0.001					uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2848-2850)aGc>aAc		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							55	55	55					14																	31816973		1897	4121	6018	SO:0001583	missense	25938						binding	g.chr14:31816973C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2831G>A	14.37:g.31816973C>T	ENSP00000374611:p.Ser944Asn					HEATR5A_uc010ami.3_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	p.S950N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	18	3034	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		944					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2849G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.244|1.244	-0.620491|-0.620491	0.03636|0.03636	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.66460	.|-0.21;-0.21;-0.21;-0.21;-0.21	5.06|5.06	1.0|1.0	0.19881|0.19881	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.395205	.|0.28796	.|N	.|0.014102	T|T	0.45357|0.45357	0.1338|0.1338	N|N	0.21194|0.21194	0.64|0.64	0.31668|0.31668	N|N	0.644722|0.644722	.|B;B;B	.|0.22211	.|0.008;0.066;0.002	.|B;B;B	.|0.23852	.|0.015;0.049;0.013	T|T	0.33929|0.33929	-0.9849|-0.9849	5|10	.|0.27082	.|T	.|0.32	.|.	5.5544|5.5544	0.17109|0.17109	0.0:0.5623:0.1294:0.3083|0.0:0.5623:0.1294:0.3083	.|.	.|950;944;944	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	T|N	578|944;944;657;950;950	.|ENSP00000374611:S944N;ENSP00000405407:S944N;ENSP00000408681:S657N;ENSP00000437968:S950N;ENSP00000384646:S950N	.|ENSP00000374611:S944N	A|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30886724|30886724	0.097000|0.097000	0.21791|0.21791	0.766000|0.766000	0.31476|0.31476	0.050000|0.050000	0.14768|0.14768	0.579000|0.579000	0.23788|0.23788	-0.094000|-0.094000	0.12374|0.12374	-1.193000|-1.193000	0.01689|0.01689	GCA|AGC		0.383	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		T	31816973	C	T	31816973	3	4	216	1	0	0	0	0	1	0	0	0	7031	797	28	3	3363	3	HEATR5A	14	31816973	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		31816973	75532567	43	15105											
GPR132	29933	broad.mit.edu	37	chr14	105518249	105518249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtagacggccagcacGttgccctgcagtacctgcag	9	6	13	13	2	0	1	0	0	0	1	0	1	0	1	3	2	6	7	3	2	2	3	rs371334440		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:105518249G>A	ENST00000329797.3	-	4	1136	c.225C>T	c.(223-225)aaC>aaT	p.N75N	GPR132_ENST00000392585.2_Silent_p.N66N|GPR132_ENST00000539291.2_Silent_p.N75N|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	75					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGCCAGCACGTTGCCCTGCA	0.647																																						uc001yqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(223-225)aaC>aaT		Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	68	64	65		225	2.6	1	14		65	0,8600		0,0,4300	no	coding-synonymous	GPR132	NM_013345.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		75/381	105518249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518249G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.225C>T	14.37:g.105518249G>A						GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Silent_p.N66N	p.N75N	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	3	1124	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	75					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.225C>T	CCDS9997.1																																																																																				0.647	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		A	105518249	G	A	105518249	2	1	216	1	0	0	0	0	0	0	0	1	6642	1136	40	1		1	GPR132	14	105518249	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	73701276	105518249	1831291	44	15106											
C15orf55	256646	broad.mit.edu	37	chr15	34640826	34640826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgttacaaagccttggccCggaggcacctatcccagagt	10	7	11	13	2	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	3	3	rs138533937		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:34640826C>T	ENST00000333756.4	+	2	828	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	NUTM1_ENST00000438749.3_Missense_Mutation_p.R243W|NUTM1_ENST00000537011.1_Missense_Mutation_p.R253W	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	225						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCCTTGGCCCGGAGGCACCT	0.483													C|||	1	0.000199681	0	0.0014	5008	,	,		17676	0		0	False		,,,				2504	0					uc010ucc.2										T					"BRD3, BRD4"		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				large_intestine(2)|ovary(3)|skin(2)	7						c.(757-759)Cgg>Tgg		Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.		C	TRP/ARG	0,4402		0,0,2201	61	64	63		673	2.8	0.7	15	dbSNP_134	63	2,8594	2.2+/-6.3	0,2,4296	yes	missense	C15orf55	NM_175741.1	101	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	225/1133	34640826	2,12996	2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640826C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.673C>T	15.37:g.34640826C>T	ENSP00000329448:p.Arg225Trp					C15orf55_uc010ucd.2_Missense_Mutation_p.R243W|C15orf55_uc001zif.3_Missense_Mutation_p.R225W	p.R253W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	1139	+		all_lung(180;2.78e-08)	225					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.757C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593596	0.66219	0.0	2.33E-4	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28895	1.59;1.59;1.59	5.69	2.76	0.32466	Nuclear Testis  protein, N-terminal (1);	0.457311	0.20812	N	0.085239	T	0.50446	0.1616	M	0.81802	2.56	0.29409	N	0.861377	D;D;B	0.89917	1.0;1.0;0.445	D;D;B	0.87578	0.998;0.996;0.11	T	0.49437	-0.8940	10	0.87932	D	0	.	4.0721	0.09887	0.2896:0.4926:0.1403:0.0774	.	243;253;225	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	W	253;243;225;225	ENSP00000444896:R253W;ENSP00000407031:R243W;ENSP00000329448:R225W	ENSP00000329448:R225W	R	+	1	2	C15orf55	32428118	0.218000	0.23608	0.748000	0.31131	0.908000	0.53690	-0.175000	0.09825	0.327000	0.23409	0.655000	0.94253	CGG		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		T	34640826	C	T	34640826	3	4	216	1	0	0	0	0	1	0	0	0	1803	643	23	2	679	2	C15orf55	15	34640826	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		34640826	67890566	45	15107											
TRPM7	54822	broad.mit.edu	37	chr15	50935595	50935595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactgcagctttaataagAccttttccaagcaactgctt	12	13	6	10	0	0	1	0	0	0	1	1	1	1	1	2	0	6	5	2	0	5	7			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:50935595A>G	ENST00000313478.7	-	5	758	c.477T>C	c.(475-477)ggT>ggC	p.G159G	TRPM7_ENST00000560955.1_Silent_p.G159G	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	159					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTTTAATAAGACCTTTTCCAA	0.383																																						uc001zyt.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(475-477)ggT>ggC		Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.							126	117	119					15																	50935595		1845	4113	5958	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50935595A>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.477T>C	15.37:g.50935595A>G						TRPM7_uc010bew.2_Silent_p.G159G	p.G159G	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	4	759	-			159					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.477T>C	CCDS42035.1																																																																																				0.383	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		G	50935595	A	G	50935595	2	3	216	1	0	0	0	0	0	0	0	1	16588	262	10	4		4	TRPM7	15	50935595	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	16294769	50935595	51595797	46	15108											
KIF7	374654	broad.mit.edu	37	chr15	90189143	90189143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcaggtgtaaggtccGcctgggcggctcctcctcct	3	9	13	16	3	0	0	0	0	0	0	4	0	4	0	6	4	1	3	6	4	1	1	rs150543610		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:90189143G>A	ENST00000394412.3	-	8	1979	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	635	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAAGGTCCGCCTGGGCGGc	0.652																																						uc002bof.2																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1903-1905)Cgg>Tgg		Homo sapiens kinesin family member 7 (KIF7), mRNA.		G	TRP/ARG	2,4398	4.2+/-10.8	0,2,2198	76	72	73		1903	-3	0	15	dbSNP_134	73	0,8598		0,0,4299	no	missense	KIF7	NM_198525.2	101	0,2,6497	AA,AG,GG		0.0,0.0455,0.0154	benign	635/1344	90189143	2,12996	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90189143G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1903C>T	15.37:g.90189143G>A	ENSP00000377934:p.Arg635Trp					KIF7_uc010upw.1_Missense_Mutation_p.R122W	p.R635W	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1980	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		635					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.1903C>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	g	5.928	0.355251	0.11239	4.55E-4	0.0	ENSG00000166813	ENST00000394412	T	0.72051	-0.62	3.84	-2.96	0.05547	.	1.363710	0.05123	N	0.491022	T	0.71576	0.3356	L	0.51422	1.61	0.09310	N	0.999991	D;D	0.76494	0.994;0.999	B;P	0.50082	0.432;0.63	T	0.68096	-0.5499	10	0.72032	D	0.01	.	12.0615	0.53564	0.0:0.0:0.3292:0.6708	.	122;635	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	W	635	ENSP00000377934:R635W	ENSP00000377934:R635W	R	-	1	2	KIF7	87990147	0.000000	0.05858	0.028000	0.17463	0.051000	0.14879	-0.075000	0.11431	-0.676000	0.05238	-0.287000	0.09952	CGG		0.652	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		A	90189143	G	A	90189143	3	1	216	1	0	0	0	0	1	0	0	0	8309	1086	38	1	2176	1	KIF7	15	90189143	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	39253548	90189143	12342249	47	15109											
UMOD	7369	broad.mit.edu	37	chr16	20357616	20357616	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgacaccttcatgtcAttggccccacattccagcct	8	9	6	18	1	2	0	2	0	0	0	3	1	3	0	6	1	2	0	6	1	0	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:20357616A>T	ENST00000570689.1	-	5	1160	c.1014T>A	c.(1012-1014)aaT>aaA	p.N338K	UMOD_ENST00000396142.2_Missense_Mutation_p.N338K|UMOD_ENST00000396138.4_Missense_Mutation_p.N387K|UMOD_ENST00000424589.1_Missense_Mutation_p.N371K|UMOD_ENST00000396134.2_Missense_Mutation_p.N371K|UMOD_ENST00000302509.4_Missense_Mutation_p.N338K			P07911	UROM_HUMAN	uromodulin	338	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTTCATGTCATTGGCCCCAC	0.557																																						uc002dhb.3																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1111-1113)aaT>aaA		Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.							83	78	80					16																	20357616		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357616A>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1014T>A	16.37:g.20357616A>T	ENSP00000460548:p.Asn338Lys					UMOD_uc002dgz.3_Missense_Mutation_p.N338K|UMOD_uc002dha.3_Missense_Mutation_p.N338K	p.N371K	NM_003361	NP_003352	P07911	UROM_HUMAN			5	1242	-			338			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1113T>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636379	0.29068	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.68	-0.0647	0.13771	Zona pellucida sperm-binding protein (3);	0.401425	0.21259	N	0.077504	T	0.68796	0.3040	L	0.31476	0.935	0.09310	N	1	P;B	0.43231	0.801;0.031	B;B	0.38106	0.265;0.062	T	0.60949	-0.7161	10	0.41790	T	0.15	-4.9059	8.2532	0.31739	0.4938:0.0:0.5061:0.0	.	371;338	E9PEA4;P07911	.;UROM_HUMAN	K	338;371;371;338;316;338	ENSP00000379438:N371K;ENSP00000416346:N371K;ENSP00000306279:N338K;ENSP00000379446:N338K	ENSP00000306279:N338K	N	-	3	2	UMOD	20265117	0.001000	0.12720	0.310000	0.25168	0.981000	0.71138	0.640000	0.24705	-0.078000	0.12730	0.260000	0.18958	AAT		0.557	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			T	20357616	A	T	20357616	3	4	216	1	0	0	0	0	1	0	0	0	16976	214	8	5	936	5	UMOD	16	20357616	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		20357616	69997137	48	15110											
TP53	7157	broad.mit.edu	37	chr17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggtgaggatgggcCtccggttcatgccgcccatg	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs587782329		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7577535C>A	ENST00000269305.4	-	7	935	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R249M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGATGGGCCTCCGGTTCAT	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		100	Substitution - Missense(74)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	p.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(1)	lung(22)|upper_aerodigestive_tract(12)|breast(8)|large_intestine(7)|liver(7)|stomach(6)|haematopoietic_and_lymphoid_tissue(5)|biliary_tract(5)|oesophagus(5)|skin(4)|bone(4)|central_nervous_system(3)|ovary(3)|adrenal_gland(2)|urinary_tract(2)|pancreas(2)|peritoneum(1)|soft_tissue(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(745-747)aGg>aTg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							154	113	127					17																	7577535		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577535C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.746G>T	17.37:g.7577535C>A	ENSP00000269305:p.Arg249Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.3_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R249M	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.746G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284101	0.80803	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.92367	3.3	0.52501	D	0.999959	P;D;P;P;D	0.89917	0.932;1.0;0.945;0.86;1.0	P;D;P;P;D	0.87578	0.622;0.998;0.795;0.453;0.991	D	0.96551	0.9408	10	0.87932	D	0	-3.0658	12.8645	0.57932	0.0:0.8349:0.1651:0.0	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	M	249;249;249;249;249;249;238;117	ENSP00000410739:R249M;ENSP00000352610:R249M;ENSP00000269305:R249M;ENSP00000398846:R249M;ENSP00000391127:R249M;ENSP00000391478:R249M;ENSP00000425104:R117M	ENSP00000269305:R249M	R	-	2	0	TP53	7518260	0.835000	0.29415	0.998000	0.56505	0.801000	0.45260	7.609000	0.82925	1.295000	0.44724	0.462000	0.41574	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577535	C	A	7577535	3	1	216	1	0	0	0	0	1	0	0	0	16378	681	24	5	544	5	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		7577535	73617675	49	15111											
CHD3	1107	broad.mit.edu	37	chr17	7811263	7811263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcctcgagatgagccacGgtccaatgggcgacgagagg	10	4	17	10	4	0	3	0	1	0	2	2	6	1	3	3	4	1	0	3	4	1	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7811263G>A	ENST00000330494.7	+	34	5228	c.5078G>A	c.(5077-5079)cGg>cAg	p.R1693Q	CHD3_ENST00000380358.4_Missense_Mutation_p.R1752Q|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.R1659Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1693	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGAGCCACGGTCCAATGGG	0.567																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5254-5256)cGg>cAg		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.							109	102	104					17																	7811263		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811263G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5078G>A	17.37:g.7811263G>A	ENSP00000332628:p.Arg1693Gln					CHD3_uc002gje.2_Missense_Mutation_p.R1693Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	p.R1752Q	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN			33	5257	+		Prostate(122;0.202)	1693			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5255G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057060	0.36277	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	D;D;D	0.89810	-2.57;-2.51;-2.51	4.83	4.83	0.62350	.	0.000000	0.40554	N	0.001073	T	0.71634	0.3363	N	0.08118	0	0.33582	D	0.599998	B;P;P;P	0.41420	0.136;0.702;0.749;0.517	B;B;B;B	0.31495	0.011;0.13;0.131;0.065	T	0.76898	-0.2789	10	0.17369	T	0.5	-19.3747	10.4508	0.44520	0.0902:0.0:0.9098:0.0	.	270;1659;1693;1752	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	Q	1752;1659;1693;21	ENSP00000369716:R1752Q;ENSP00000350907:R1659Q;ENSP00000332628:R1693Q	ENSP00000332628:R1693Q	R	+	2	0	CHD3	7751988	0.004000	0.15560	1.000000	0.80357	0.998000	0.95712	1.612000	0.36889	2.509000	0.84616	0.561000	0.74099	CGG		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7811263	G	A	7811263	3	1	216	1	0	0	0	0	1	0	0	0	3326	1116	39	2	5493	2	CHD3	17	7811263	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	233728	7811263	73383947	50	15112											
MYH2	4620	broad.mit.edu	37	chr17	10428377	10428377	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcttcatgttcaagAgatgccttaatgacagcaag	11	13	7	10	0	3	2	2	1	1	1	4	3	4	2	2	0	2	2	2	0	3	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:10428377A>G	ENST00000245503.5	-	34	5052	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.S1556S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1556					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGTTCAAGAGATGCCTTAA	0.388																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4666-4668)tcT>tcC		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							79	81	80					17																	10428377		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428377A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4668T>C	17.37:g.10428377A>G						AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S1556S|MYH2_uc010coj.3_Intron	p.S1556S	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			33	4796	-			1556					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4668T>C	CCDS11156.1																																																																																				0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		G	10428377	A	G	10428377	2	3	216	1	0	0	0	0	0	0	0	1	10035	291	11	4		4	MYH2	17	10428377	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	2617114	10428377	70766833	51	15113											
ABCA8	10351	broad.mit.edu	37	chr17	66924136	66924136	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaaatttgttgctacAatgagatttgagccgtccga	13	12	9	7	2	0	3	0	3	0	1	1	5	1	3	2	0	4	2	2	0	4	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:66924136A>T	ENST00000269080.2	-	9	1331	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	ABCA8_ENST00000430352.2_Silent_p.I398I|ABCA8_ENST00000586539.1_Silent_p.I398I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	398					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGTTGCTACAATGAGATTTG	0.328																																						uc002jhq.3																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1192-1194)atT>atA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.							66	67	67					17																	66924136		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66924136A>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1194T>A	17.37:g.66924136A>T						ABCA8_uc002jhp.3_Silent_p.I398I|ABCA8_uc010wqq.2_Silent_p.I398I|ABCA8_uc010wqr.2_Silent_p.I337I|ABCA8_uc002jhr.3_Silent_p.I398I	p.I398I	NM_007168	NP_009099	O94911	ABCA8_HUMAN			9	1534	-	Breast(10;4.56e-13)		398					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.1194T>A	CCDS11680.1																																																																																				0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		T	66924136	A	T	66924136	2	4	216	1	0	0	0	0	0	0	0	1	38	126	5	5		5	ABCA8	17	66924136	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	56495759	66924136	14271074	52	15114											
DSG3	1830	broad.mit.edu	37	chr18	29052349	29052349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcagaaggaacaattcAtcagtggggaattgaaggag	14	8	14	5	0	3	2	3	1	0	1	3	5	3	5	0	5	1	1	0	5	5	2	rs574305228		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr18:29052349A>G	ENST00000257189.4	+	13	2083	c.2000A>G	c.(1999-2001)cAt>cGt	p.H667R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	667					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAACAATTCATCAGTGGGGA	0.448													A|||	1	0.000199681	0	0.0014	5008	,	,		16847	0		0	False		,,,				2504	0					uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1999-2001)cAt>cGt		Homo sapiens desmoglein 3 (DSG3), mRNA.							95	97	96					18																	29052349		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052349A>G	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2000A>G	18.37:g.29052349A>G	ENSP00000257189:p.His667Arg					DSG3_uc002kwt.3_5'Flank	p.H667R	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	2109	+			667					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2000A>G	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131126	0.37630	.	.	ENSG00000134757	ENST00000257189	T	0.49432	0.78	5.73	4.57	0.56435	.	0.000000	0.50627	D	0.000114	T	0.38983	0.1061	L	0.54323	1.7	0.31845	N	0.622959	B	0.31599	0.33	B	0.27887	0.084	T	0.48305	-0.9047	10	0.37606	T	0.19	.	8.1798	0.31305	0.7859:0.0:0.2141:0.0	.	667	P32926	DSG3_HUMAN	R	667	ENSP00000257189:H667R	ENSP00000257189:H667R	H	+	2	0	DSG3	27306347	0.541000	0.26417	0.989000	0.46669	0.994000	0.84299	1.260000	0.32968	0.995000	0.38917	0.383000	0.25322	CAT		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		G	29052349	A	G	29052349	3	3	216	1	0	0	0	0	1	0	0	0	4778	217	8	4	2050	4	DSG3	18	29052349	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		29052349	49024899	53	15115											
ZFR2	23217	broad.mit.edu	37	chr19	3823274	3823274	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattccgggcccaccggctgCgcatcagagcagcccgcggg	6	5	14	16	5	1	1	1	0	0	1	2	1	2	1	4	3	3	3	4	3	1	2	rs371065673		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:3823274C>A	ENST00000262961.4	-	8	1351	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	447							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACCGGCTGCGCATCAGAGC	0.622																																						uc002lyw.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1339-1341)gcG>gcT		Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.							88	94	92					19																	3823274		1894	4108	6002	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3823274C>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1341G>T	19.37:g.3823274C>A						ZFR2_uc010xhx.1_Non-coding_Transcript	p.A447A	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	7	1353	-			447						Silent	SNP	ENST00000262961.4	37	c.1341G>T	CCDS45921.1																																																																																				0.622	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		A	3823274	C	A	3823274	2	1	216	1	0	0	0	0	0	0	0	1	17657	755	27	5		5	ZFR2	19	3823274	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		3823274	55305709	54	15116											
RFX1	5989	broad.mit.edu	37	chr19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgtgctcggctgctgcCccaccgccacgccgttggtc	2	7	12	20	5	0	0	0	0	0	0	2	0	0	0	7	2	3	4	7	2	0	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:14079442C>T	ENST00000254325.4	-	12	1901	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	556					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662																																						uc002mxv.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1666-1668)gGg>gAg		Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.							59	64	62					19																	14079442		2203	4298	6501	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14079442C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1667G>A	19.37:g.14079442C>T	ENSP00000254325:p.Gly556Glu						p.G556E	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		11	1939	-			556						Missense_Mutation	SNP	ENST00000254325.4	37	c.1667G>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650606	0.47362	.	.	ENSG00000132005	ENST00000254325	T	0.59502	0.26	5.33	5.33	0.75918	.	0.419611	0.26855	N	0.022155	T	0.59985	0.2234	M	0.66939	2.045	0.35726	D	0.817566	P	0.47409	0.895	P	0.45232	0.474	T	0.70802	-0.4773	10	0.44086	T	0.13	-34.6237	13.5261	0.61594	0.0:0.843:0.157:0.0	.	556	P22670	RFX1_HUMAN	E	556	ENSP00000254325:G556E	ENSP00000254325:G556E	G	-	2	0	RFX1	13940442	0.955000	0.32602	1.000000	0.80357	0.451000	0.32288	3.131000	0.50515	2.503000	0.84419	0.561000	0.74099	GGG		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		T	14079442	C	T	14079442	3	4	216	1	0	0	0	0	1	0	0	0	13262	623	22	3	1312	3	RFX1	19	14079442	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	10256168	14079442	45049541	55	15117											
CPAMD8	27151	broad.mit.edu	37	chr19	17013524	17013524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgctgggtcatcatcGtcagctgggggccagtctcc	4	9	14	14	3	4	0	3	0	1	0	7	0	4	0	3	4	1	2	3	4	0	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:17013524G>A	ENST00000443236.1	-	35	4792	c.4761C>T	c.(4759-4761)gaC>gaT	p.D1587D		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1540						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCATCATCGTCAGCTGGGG	0.662																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4759-4761)gaC>gaT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.																																				SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17013524G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4761C>T	19.37:g.17013524G>A						CPAMD8_uc002nfd.1_Silent_p.D52D	p.D1587D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			34	4793	-			1540					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4761C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.203212	0.01581	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.83	-3.0	0.05480	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51140	-0.8743	4	.	.	.	.	11.0516	0.47894	0.5823:0.0:0.4177:0.0	.	.	.	.	M	1598	.	.	T	-	2	0	CPAMD8	16874524	0.989000	0.36119	0.015000	0.15790	0.121000	0.20230	0.197000	0.17197	-1.262000	0.02459	-1.764000	0.00666	ACG		0.662	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17013524	G	A	17013524	2	1	216	1	0	0	0	0	0	0	0	1	3795	1136	40	1		1	CPAMD8	19	17013524	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	2934082	17013524	42115459	56	15118											
CEACAM20	125931	broad.mit.edu	37	chr19	45021085	45021085	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcagttgtagatcccgtCgtgttcccaggtcagagccc	6	11	12	12	2	1	2	1	0	0	2	4	2	3	2	3	1	2	4	3	1	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:45021085C>T	ENST00000454753.1	-	0	1509							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TAGATCCCGTCGTGTTCCCAG	0.592																																						uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(1231-1233)Gac>Aac		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							60	65	64					19																	45021085		2057	4191	6248			125931					integral to membrane		g.chr19:45021085C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45021085C>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	p.D411N	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			5	1247	-		Prostate(69;0.0352)	411			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000454753.1	37	c.1231G>A																																																																																					0.592	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		T	45021085	C	T	45021085	1	4	216	0	1	0	0	0	0	0	0	0	3191	884	31	2		2	CEACAM20	19	45021085	RNA	SNP	C	TCGA-28-5216-01A-01D-1486-08	28007561	45021085	14107898	57	15119											
VN1R2	317701	broad.mit.edu	37	chr19	53761868	53761868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcttgtctctgcacaCggagagaaacccaccaaacc	12	7	6	16	1	2	1	0	0	2	1	4	3	2	2	3	1	3	1	3	1	2	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458																																						uc002qbi.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(238-240)caC>caT		Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.							40	40	40					19																	53761868		2191	4286	6477	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53761868C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.240C>T	19.37:g.53761868C>T							p.H80H	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	0	324	+			80					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.240C>T	CCDS12862.1																																																																																				0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		T	53761868	C	T	53761868	2	4	216	1	0	0	0	0	0	0	0	1	17176	535	19	1		1	VN1R2	19	53761868	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	8740783	53761868	5367115	58	15120											
MMP9	4318	broad.mit.edu	37	chr20	44639814	44639814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggaaacgcagatggcGcggcctgccacttccccttc	6	9	12	14	3	0	1	0	0	0	1	2	2	1	2	4	4	2	2	4	4	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:44639814G>A	ENST00000372330.3	+	5	701	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	228	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CGCAGATGGCGCGGCCTGCCA	0.637																																						uc002xqz.3																			0		p.A228A(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(682-684)Gcg>Acg		Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						94	105	102					20																	44639814		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639814G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.682G>A	20.37:g.44639814G>A	ENSP00000361405:p.Ala228Thr						p.A228T	NM_004994	NP_004985	P14780	MMP9_HUMAN			4	701	+		Myeloproliferative disorder(115;0.0122)	228			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.682G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395562	0.96009	.	.	ENSG00000100985	ENST00000372330	T	0.10099	2.91	4.56	4.56	0.56223	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.103114	0.64402	D	0.000002	T	0.25865	0.0630	M	0.85710	2.77	0.80722	D	1	D	0.53885	0.963	P	0.48270	0.572	T	0.15206	-1.0445	10	0.54805	T	0.06	.	16.8574	0.86009	0.0:0.0:1.0:0.0	.	228	P14780	MMP9_HUMAN	T	228	ENSP00000361405:A228T	ENSP00000361405:A228T	A	+	1	0	MMP9	44073221	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	5.388000	0.66249	2.514000	0.84764	0.650000	0.86243	GCG		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			A	44639814	G	A	44639814	3	1	216	1	0	0	0	0	1	0	0	0	9669	1087	38	1	700	1	MMP9	20	44639814	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		44639814	18385706	59	15121											
SALL4	57167	broad.mit.edu	37	chr20	50408434	50408434	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggagtgcatccgcgctCcgctgattcaccgccacctt	6	8	11	16	4	1	1	1	1	0	0	3	2	3	2	5	1	1	4	5	1	0	2	rs143754390	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:50408434C>A	ENST00000217086.4	-	2	699	c.588G>T	c.(586-588)cgG>cgT	p.R196R	SALL4_ENST00000395997.3_Silent_p.R196R|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	196					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCGCTCCGCTGATTCA	0.602																																						uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(586-588)cgG>cgT		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							93	93	93					20																	50408434		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408434C>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.588G>T	20.37:g.50408434C>A						SALL4_uc010gii.3_Silent_p.R196R|SALL4_uc002xwi.4_Intron	p.R196R	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	689	-			196					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.588G>T	CCDS13438.1																																																																																				0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50408434	C	A	50408434	2	1	216	1	0	0	0	0	0	0	0	1	13813	842	30	5		5	SALL4	20	50408434	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	5768620	50408434	12617086	60	15122											
CXorf65	158830	broad.mit.edu	37	chrX	70325861	70325861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctacctggtggcccaCgttccaccttacaaacgtag	9	9	8	15	2	1	0	0	0	1	0	2	0	2	0	5	2	4	2	5	2	4	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chrX:70325861C>T	ENST00000374251.5	-	3	287	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	80										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTGGCCCACGTTCCACCTT	0.453																																						uc011mpo.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(238-240)cGt>cAt		Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.							146	113	124					X																	70325861		2203	4300	6503	SO:0001583	missense	158830							g.chrX:70325861C>T	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.239G>A	X.37:g.70325861C>T	ENSP00000363369:p.Arg80His					CXorf65_uc011mpp.2_Missense_Mutation_p.R32H	p.R80H	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN			2	471	-			80						Missense_Mutation	SNP	ENST00000374251.5	37	c.239G>A	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449630	0.43531	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.49432	0.78;0.78	4.87	4.01	0.46588	.	0.435071	0.21676	N	0.070781	T	0.54870	0.1885	L	0.42245	1.32	0.29070	N	0.88335	D	0.76494	0.999	D	0.68943	0.961	T	0.51060	-0.8753	10	0.62326	D	0.03	5.3552	6.8608	0.24066	0.0:0.7901:0.0:0.2099	.	80	A6NEN9	CX065_HUMAN	H	80	ENSP00000363369:R80H;ENSP00000411354:R80H	ENSP00000363369:R80H	R	-	2	0	CXorf65	70242586	0.315000	0.24571	0.732000	0.30844	0.291000	0.27294	0.063000	0.14410	1.047000	0.40274	0.529000	0.55759	CGT		0.453	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		T	70325861	C	T	70325861	3	4	216	1	0	0	0	0	1	0	0	0	4117	536	19	1	328	1	CXorf65	23	70325861	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		70325861	84944699	61	15123											
ZBTB40	9923	broad.mit.edu	37	chr1	22835047	22835047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagcttgtgaaacgtGactctggttcaggtggtttc	8	13	14	6	1	2	3	1	2	1	1	3	4	2	3	0	4	2	3	0	4	2	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:22835047G>T	ENST00000375647.4	+	8	1729	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y	ZBTB40_ENST00000374651.4_Missense_Mutation_p.D396Y|ZBTB40_ENST00000404138.1_Missense_Mutation_p.D508Y	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	508					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTGAAACGTGACTCTGGTTC	0.483																																						uc001bft.2																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1522-1524)Gac>Tac		Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.							150	146	147					1																	22835047		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22835047G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1522G>T	1.37:g.22835047G>T	ENSP00000364798:p.Asp508Tyr					ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	p.D508Y	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	8	2033	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	508					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1522G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427546	0.43122	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.79352	-1.26;-1.26;-1.26	6.06	5.15	0.70609	.	0.612517	0.15219	N	0.274041	T	0.73079	0.3541	N	0.24115	0.695	0.09310	N	1	P;P	0.52692	0.955;0.924	P;P	0.51135	0.66;0.459	T	0.65537	-0.6144	10	0.87932	D	0	-3.9436	10.104	0.42521	0.1517:0.0:0.8483:0.0	.	396;508	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Y	508;508;396	ENSP00000384527:D508Y;ENSP00000364798:D508Y;ENSP00000363782:D396Y	ENSP00000363782:D396Y	D	+	1	0	ZBTB40	22707634	0.041000	0.20044	0.098000	0.21074	0.993000	0.82548	2.449000	0.44935	1.580000	0.49851	0.655000	0.94253	GAC		0.483	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		T	22835047	G	T	22835047	3	4	217	1	0	0	0	0	1	0	0	0	17539	1290	45	5	1548	5	ZBTB40	1	22835047	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		22835047	226415574	1	15124											
HMCN1	83872	broad.mit.edu	37	chr1	186121993	186121993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagtcacctgctgaagTcactgtaaaggtaaaatgcc	12	10	9	10	0	3	1	3	1	0	0	3	1	3	1	2	1	2	4	2	1	5	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:186121993T>G	ENST00000271588.4	+	96	15237	c.15008T>G	c.(15007-15009)gTc>gGc	p.V5003G	HMCN1_ENST00000367492.2_Missense_Mutation_p.V5003G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5003	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTGCTGAAGTCACTGTAAAG	0.438																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15007-15009)gTc>gGc		Homo sapiens hemicentin 1 (HMCN1), mRNA.							201	174	183					1																	186121993		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186121993T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15008T>G	1.37:g.186121993T>G	ENSP00000271588:p.Val5003Gly					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.V572G	p.V5003G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			95	15237	+			5003			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15008T>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703272	0.88924	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.47869	0.83;0.83	5.9	5.9	0.94986	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.227351	0.45361	D	0.000371	T	0.61236	0.2331	L	0.46157	1.445	0.80722	D	1	D	0.55385	0.971	P	0.62298	0.9	T	0.63567	-0.6608	10	0.87932	D	0	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	5003	Q96RW7	HMCN1_HUMAN	G	5003	ENSP00000271588:V5003G;ENSP00000356462:V5003G	ENSP00000271588:V5003G	V	+	2	0	HMCN1	184388616	1.000000	0.71417	0.501000	0.27601	0.863000	0.49368	7.716000	0.84723	2.251000	0.74343	0.528000	0.53228	GTC		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186121993	T	G	186121993	3	3	217	1	0	0	0	0	1	0	0	0	7220	1667	58	5	15390	5	HMCN1	1	186121993	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	163286946	186121993	63128628	2	15125											
OBSCN	84033	broad.mit.edu	37	chr1	228559651	228559651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcagttgccccatgccctCctggctccttccctccagga	5	9	8	19	0	0	0	0	0	0	0	4	1	4	1	7	2	3	3	7	2	0	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:228559651C>T	ENST00000422127.1	+	94	21216	c.21172C>T	c.(21172-21174)Cct>Tct	p.P7058S	OBSCN_ENST00000570156.2_Missense_Mutation_p.P8015S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4692S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7058	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATGCCCTCCTGGCTCCTT	0.672																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21172-21174)Cct>Tct		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							33	36	35					1																	228559651		1902	4111	6013	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559651C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21172C>T	1.37:g.228559651C>T	ENSP00000409493:p.Pro7058Ser					OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S	p.P7058S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			93	21216	+		Prostate(94;0.0405)	7058			Pro-rich.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.21172C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.128825|2.128825	0.37533|0.37533	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.62941|.	-0.01;0.03|.	4.39|4.39	-0.927|-0.927	0.10451|0.10451	.|.	2581.280000|.	0.00166|.	N|.	0.000000|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.06405|.	0.002|.	T|T	0.31052|0.31052	-0.9957|-0.9957	10|5	0.20046|.	T|.	0.44|.	.|.	8.7552|8.7552	0.34641|0.34641	0.0:0.5666:0.0:0.4334|0.0:0.5666:0.0:0.4334	.|.	7058|.	Q5VST9|.	OBSCN_HUMAN|.	S|F	7058;4692|1674	ENSP00000409493:P7058S;ENSP00000355668:P4692S|.	ENSP00000355668:P4692S|.	P|S	+|+	1|2	0|0	OBSCN|OBSCN	226626274|226626274	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.691000|-0.691000	0.05133|0.05133	-0.368000|-0.368000	0.08040|0.08040	0.455000|0.455000	0.32223|0.32223	CCT|TCC		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228559651	C	T	228559651	3	4	217	1	0	0	0	0	1	0	0	0	10812	855	30	3	22752	3	OBSCN	1	228559651	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	42437658	228559651	20690970	3	15126											
KIAA1804	84451	broad.mit.edu	37	chr1	233518426	233518426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaccagccggccatctaTatatgaactggagaaagaat	17	7	8	9	1	1	3	0	1	1	2	1	4	1	3	3	2	3	0	3	2	8	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:233518426T>C	ENST00000366624.3	+	10	3341	c.3080T>C	c.(3079-3081)aTa>aCa	p.I1027T	MLK4_ENST00000366622.1_Missense_Mutation_p.I473T	NM_032435.2	NP_115811.2																					CGGCCATCTATATATGAACTG	0.428																																						uc001hvt.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52						c.(3079-3081)aTa>aCa		Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.							63	57	59					1																	233518426		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233518426T>C																												ENST00000366624.3:c.3080T>C	1.37:g.233518426T>C	ENSP00000355583:p.Ile1027Thr					KIAA1804_uc001hvu.4_Missense_Mutation_p.I473T	p.I1027T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			9	3341	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	1027						Missense_Mutation	SNP	ENST00000366624.3	37	c.3080T>C	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900947	0.33535	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.75260	-0.92;3.08	4.68	3.56	0.40772	.	0.274277	0.29522	N	0.011908	T	0.64461	0.2600	L	0.40543	1.245	0.22710	N	0.998827	P;B	0.40431	0.717;0.038	B;B	0.41271	0.352;0.025	T	0.53767	-0.8392	10	0.31617	T	0.26	.	8.7714	0.34735	0.0:0.0858:0.0:0.9141	.	474;1027	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	T	1027;473	ENSP00000355583:I1027T;ENSP00000355581:I473T	ENSP00000355581:I473T	I	+	2	0	RP5-862P8.2	231585049	0.715000	0.27946	0.001000	0.08648	0.940000	0.58332	3.286000	0.51724	0.837000	0.34925	0.460000	0.39030	ATA		0.428	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			C	233518426	T	C	233518426	3	2	217	1	0	0	0	0	1	0	0	0	8259	1406	49	4	3118	4	KIAA1804	1	233518426	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	4958775	233518426	15732195	4	15127											
FIGN	55137	broad.mit.edu	37	chr2	164467616	164467616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggatagctgtaactggaGaggttagaagtcccattgta	12	10	13	6	1	0	2	0	0	0	2	1	5	1	3	1	3	2	4	1	3	5	5			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr2:164467616G>A	ENST00000333129.3	-	3	1040	c.726C>T	c.(724-726)ctC>ctT	p.L242L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	242	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTAACTGGAGAGGTTAGAAG	0.612																																						uc002uck.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(724-726)ctC>ctT		Homo sapiens fidgetin (FIGN), mRNA.							47	51	50					2																	164467616		1998	4179	6177	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467616G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.726C>T	2.37:g.164467616G>A							p.L242L	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			2	1037	-			242			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.726C>T	CCDS2221.2																																																																																				0.612	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		A	164467616	G	A	164467616	2	1	217	1	0	0	0	0	0	0	0	1	5891	929	33	3		3	FIGN	2	164467616	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08		164467616	78731757	5	15128											
SENP5	205564	broad.mit.edu	37	chr3	196613120	196613120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagtgccacaaacgcctgGgaccagtcatcctgttcttc	8	9	10	14	1	2	0	1	0	1	0	4	1	3	1	4	2	2	2	4	2	1	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr3:196613120G>A	ENST00000323460.5	+	2	1317	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	SENP5_ENST00000445299.2_Nonsense_Mutation_p.W356*|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	356					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAAACGCCTGGGACCAGTCAT	0.468																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1066-1068)tgG>tgA		Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.							68	64	66					3																	196613120		2203	4300	6503	SO:0001587	stop_gained	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613120G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1068G>A	3.37:g.196613120G>A	ENSP00000327197:p.Trp356*					SENP5_uc011bty.2_Nonsense_Mutation_p.W356*	p.W356*	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	1	1317	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		356					B4DY82|Q96SA5	Nonsense_Mutation	SNP	ENST00000323460.5	37	c.1068G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	37	6.435393	0.97564	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	.	.	.	5.4	5.4	0.78164	.	0.345116	0.28156	N	0.016398	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.678	17.0538	0.86527	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000327197:W356X	W	+	3	0	SENP5	198097517	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	4.927000	0.63440	2.691000	0.91804	0.655000	0.94253	TGG		0.468	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		A	196613120	G	A	196613120	4	1	217	1	0	0	0	0	0	1	0	0	14049	1241	43	3	1070	3	SENP5	3	196613120	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		196613120	1409310	6	15129											
OR2J2	26707	broad.mit.edu	37	chr6	29142195	29142195	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagtcatgtgcatgtatctCcagccaccatcagaaaattc	12	10	6	13	0	3	1	2	0	1	1	5	1	3	1	4	0	2	2	4	0	3	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr6:29142195C>G	ENST00000377167.2	+	1	885	c.783C>G	c.(781-783)ctC>ctG	p.L261L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433																																						uc011dlm.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(781-783)ctC>ctG		Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.							117	110	112					6																	29142195		1912	4130	6042	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142195C>G		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.783C>G	6.37:g.29142195C>G							p.L261L	NM_030905	NP_112167	O76002	OR2J2_HUMAN			0	885	+			261					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.783C>G	CCDS43434.1																																																																																				0.433	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			G	29142195	C	G	29142195	2	3	217	1	0	0	0	0	0	0	0	1	11003	842	30	5		5	OR2J2	6	29142195	Silent	SNP	C	TCGA-28-5218-01A-01D-1486-08		29142195	141972872	7	15130											
MUC17	140453	broad.mit.edu	37	chr7	100677921	100677921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcacacctgtgaccaCttattctcaagccagttcat	11	10	5	15	0	2	1	2	1	1	0	3	1	2	1	4	0	2	2	4	0	2	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:100677921C>T	ENST00000306151.4	+	3	3288	c.3224C>T	c.(3223-3225)aCt>aTt	p.T1075I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1075	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTGACCACTTATTCTCAA	0.488																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3223-3225)aCt>aTt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							431	358	383					7																	100677921		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677921C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3224C>T	7.37:g.100677921C>T	ENSP00000302716:p.Thr1075Ile					MUC17_uc010lho.1_Non-coding_Transcript	p.T1075I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	3277	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1075			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3224C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.244	0.044289	0.08196	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.74	0.74	0.18330	.	.	.	.	.	T	0.03263	0.0095	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.48627	0.584	T	0.50508	-0.8820	9	0.40728	T	0.16	.	7.4353	0.27152	0.0:1.0:0.0:0.0	.	1075	Q685J3	MUC17_HUMAN	I	1075	ENSP00000302716:T1075I	ENSP00000302716:T1075I	T	+	2	0	MUC17	100464641	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.529000	0.06186	0.720000	0.32209	0.134000	0.15878	ACT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677921	C	T	100677921	3	4	217	1	0	0	0	0	1	0	0	0	9974	565	20	3	3234	3	MUC17	7	100677921	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		100677921	58460742	8	15131											
EPHA1	2041	broad.mit.edu	37	chr7	143098437	143098437	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaacaagggccgtcGgagctgaatgcccacatcct	9	8	11	13	2	1	1	0	1	1	0	3	3	2	3	3	3	3	1	3	3	3	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:143098437G>A	ENST00000275815.3	-	3	498	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	138	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGGGCCGTCGGAGCTGAATG	0.592																																						uc003wcz.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(412-414)Cga>Tga		Homo sapiens EPH receptor A1 (EPHA1), mRNA.							95	98	97					7																	143098437		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098437G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.412C>T	7.37:g.143098437G>A	ENSP00000275815:p.Arg138*						p.R138*	NM_005232	NP_005223	P21709	EPHA1_HUMAN			2	499	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	138					A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.412C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653366	0.96724	.	.	ENSG00000146904	ENST00000275815	.	.	.	4.63	4.63	0.57726	.	0.000000	0.47093	D	0.000257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8453	0.78883	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000275815:R138X	R	-	1	2	EPHA1	142808559	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.775000	0.91772	2.402000	0.81655	0.655000	0.94253	CGA		0.592	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143098437	G	A	143098437	4	1	217	1	0	0	0	0	0	1	0	0	5165	1124	39	2	2582	2	EPHA1	7	143098437	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	42420516	143098437	16040226	9	15132											
ATP6V1C1	528	broad.mit.edu	37	chr8	104075258	104075258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgatgacttcagacaCaaagccagagaaaacaagta	18	6	9	8	0	1	4	1	2	0	2	1	5	1	4	1	0	2	3	1	0	5	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:104075258C>G	ENST00000395862.3	+	9	876	c.717C>G	c.(715-717)caC>caG	p.H239Q	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.H164Q|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.H164Q|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.H239Q	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	239					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ACTTCAGACACAAAGCCAGAG	0.328																																						uc003ykz.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(715-717)caC>caG		Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.							87	89	89					8																	104075258		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104075258C>G	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.717C>G	8.37:g.104075258C>G	ENSP00000379203:p.His239Gln					ATP6V1C1_uc010mbz.3_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.3_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.H164Q	p.H239Q	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		8	962	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		239						Missense_Mutation	SNP	ENST00000395862.3	37	c.717C>G	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244439	0.22796	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.14	2.97	0.34412	.	0.046056	0.85682	D	0.000000	T	0.28134	0.0694	L	0.31207	0.915	0.41946	D	0.99063	B	0.10296	0.003	B	0.13407	0.009	T	0.06991	-1.0796	10	0.12430	T	0.62	.	12.3378	0.55077	0.0:0.7831:0.0:0.2169	.	239	P21283	VATC1_HUMAN	Q	164;239;164;239	ENSP00000428204:H164Q;ENSP00000379203:H239Q;ENSP00000430129:H164Q;ENSP00000430282:H239Q	ENSP00000379203:H239Q	H	+	3	2	ATP6V1C1	104144434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.952000	0.40343	1.156000	0.42514	0.655000	0.94253	CAC		0.328	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		G	104075258	C	G	104075258	3	3	217	1	0	0	0	0	1	0	0	0	1180	477	17	5	747	5	ATP6V1C1	8	104075258	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		104075258	42288764	10	15133											
LRRC6	23639	broad.mit.edu	37	chr8	133645122	133645122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttaagacagtgatctttttCctgctctctgatttgtggtt	6	20	8	7	0	2	3	0	2	2	1	4	3	3	3	1	1	1	2	1	1	1	6			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:133645122C>T	ENST00000519595.1	-	5	615	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	LRRC6_ENST00000518642.1_Missense_Mutation_p.E173K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E173K|LRRC6_ENST00000520446.1_Intron			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	173					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGATCTTTTTCCTGCTCTCTG	0.398																																						uc003ytk.3																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(517-519)Gaa>Aaa		Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.							266	234	245					8																	133645122		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133645122C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.517G>A	8.37:g.133645122C>T	ENSP00000429791:p.Glu173Lys					LRRC6_uc022bbp.1_Missense_Mutation_p.E173K|LRRC6_uc003ytl.3_Non-coding_Transcript	p.E173K	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		4	591	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		173					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.517G>A		.	.	.	.	.	.	.	.	.	.	C	19.26	3.792572	0.70452	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55930	0.65;0.49;0.65	5.23	5.23	0.72850	.	0.095113	0.64402	D	0.000001	T	0.66307	0.2776	M	0.81497	2.545	0.58432	D	0.999997	P	0.51653	0.947	P	0.50934	0.654	T	0.68288	-0.5448	10	0.39692	T	0.17	-31.2261	18.1499	0.89671	0.0:1.0:0.0:0.0	.	173	Q86X45	LRRC6_HUMAN	K	173	ENSP00000429791:E173K;ENSP00000428610:E173K;ENSP00000250173:E173K	ENSP00000250173:E173K	E	-	1	0	LRRC6	133714304	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.943000	0.70211	2.601000	0.87937	0.555000	0.69702	GAA		0.398	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		T	133645122	C	T	133645122	3	4	217	1	0	0	0	0	1	0	0	0	9016	864	30	3	915	3	LRRC6	8	133645122	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	29569864	133645122	12718900	11	15134											
CDKN2B	1030	broad.mit.edu	37	chr9	22006044	22006044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggtggccccgctcctcgGccaagtccacgggcagacga	6	4	14	17	6	0	1	0	0	0	1	3	2	2	1	5	4	0	2	5	4	1	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006044G>T	ENST00000276925.6	-	2	768	c.359C>A	c.(358-360)gCc>gAc	p.A120D	CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B_ENST00000380142.4_3'UTR	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	120					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCGCTCCTCGGCCAAGTCCAC	0.701																																						uc003zpo.3																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(358-360)gCc>gAc		Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.							14	16	15					9																	22006044		2192	4274	6466	SO:0001583	missense	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006044G>T	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.359C>A	9.37:g.22006044G>T	ENSP00000276925:p.Ala120Asp					MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	p.A120D	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	1	719	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	120					O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.359C>A	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168736	0.94768	.	.	ENSG00000147883	ENST00000276925	D	0.82255	-1.59	4.79	4.79	0.61399	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96009	0.9000	10	0.87932	D	0	-6.6976	15.3702	0.74557	0.0:0.0:1.0:0.0	.	120	P42772	CDN2B_HUMAN	D	120	ENSP00000276925:A120D	ENSP00000276925:A120D	A	-	2	0	CDKN2B	21996044	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.211000	0.89754	2.461000	0.83175	0.655000	0.94253	GCC		0.701	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		T	22006044	G	T	22006044	3	4	217	1	0	0	0	0	1	0	0	0	3164	1203	42	5	61	5	CDKN2B	9	22006044	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		22006044	119207387	12	15135			1	40		2	2	25	N	G_C	2.6359e-05
CDKN2B	1030	broad.mit.edu	37	chr9	22006068	22006068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccacgggcagacgacccCaggcatcgcgcacgtccagc	9	3	12	17	5	0	1	0	0	0	1	3	2	2	1	4	2	1	3	4	2	0	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006068C>A	ENST00000276925.6	-	2	744	c.335G>T	c.(334-336)tGg>tTg	p.W112L	CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B_ENST00000380142.4_3'UTR	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	112					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CAGACGACCCCAGGCATCGCG	0.726																																						uc003zpo.3																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(334-336)tGg>tTg		Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.							15	18	17					9																	22006068		2190	4281	6471	SO:0001583	missense	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006068C>A	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.335G>T	9.37:g.22006068C>A	ENSP00000276925:p.Trp112Leu					MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	p.W112L	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	1	695	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	112					O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.335G>T	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903011	0.33628	.	.	ENSG00000147883	ENST00000276925	D	0.94000	-3.33	4.63	3.66	0.41972	Ankyrin repeat-containing domain (4);	0.502195	0.23058	N	0.052403	T	0.81336	0.4801	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.74535	-0.3633	10	0.08599	T	0.76	-11.1138	9.3283	0.38005	0.319:0.681:0.0:0.0	.	112	P42772	CDN2B_HUMAN	L	112	ENSP00000276925:W112L	ENSP00000276925:W112L	W	-	2	0	CDKN2B	21996068	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.059000	0.11731	2.384000	0.81235	0.655000	0.94253	TGG		0.726	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		A	22006068	C	A	22006068	3	1	217	1	0	0	0	0	1	0	0	0	3164	595	21	5	85	5	CDKN2B	9	22006068	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	24	22006068	119207363	13	15136			1	40		2	2	25	N	G_C	2.6359e-05
PTPRE	5791	broad.mit.edu	37	chr10	129861345	129861345	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaattgtcctctacacacAggtcccaaacaggaaacggt	14	7	8	12	2	1	0	0	0	1	0	3	2	3	1	2	3	3	0	2	3	4	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr10:129861345A>T	ENST00000254667.3	+	10	904		c.e10-1		PTPRE_ENST00000430713.2_Splice_Site|PTPRE_ENST00000419012.2_Splice_Site|PTPRE_ENST00000306042.5_Splice_Site	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CTCTACACACAGGTCCCAAAC	0.522																																					Colon(52;977 1184 20575 41685)	uc009yat.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.e11-2		Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.							90	82	85					10																	129861345		2203	4300	6503	SO:0001630	splice_region_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129861345A>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.626-1A>T	10.37:g.129861345A>T						PTPRE_uc001lkb.3_Splice_Site_p.G209_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.G209_splice|PTPRE_uc001lkd.3_Splice_Site_p.G151_splice|PTPRE_uc010quq.1_Splice_Site_p.G110_splice	p.G220_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN			11	1076	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	209			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Splice_Site	SNP	ENST00000254667.3	37	c.659_splice	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266334	0.59540	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2447	0.60016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRE	129751335	1.000000	0.71417	0.983000	0.44433	0.748000	0.42578	8.631000	0.90991	1.970000	0.57323	0.460000	0.39030	.		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		Intron	T	129861345	A	T	129861345	5	4	217	1	0	0	0	0	0	0	1	0	12800	202	7	5	693	5	PTPRE	10	129861345	Splice_Site	SNP	A	TCGA-28-5218-01A-01D-1486-08		129861345	5673402	14	15137											
MEN1	4221	broad.mit.edu	37	chr11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccggagacccagggcctGgcaggccccaaccacagcaa	11	2	11	17	1	0	1	0	0	0	1	1	2	1	1	6	4	2	2	6	4	2	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:64575521G>A	ENST00000337652.1	-	3	1014	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	171			Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.3			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0		p.R171Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM983963	MEN1	M		c.(511-513)Cag>Tag		Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.							38	39	38					11																	64575521		2201	4297	6498	SO:0001587	stop_gained	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575521G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.511C>T	11.37:g.64575521G>A	ENSP00000337088:p.Gln171*					MEN1_uc001obk.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obq.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.3_Nonsense_Mutation_p.Q171*	p.Q171*	NM_130800	NP_570716	O00255	MEN1_HUMAN			2	584	-			171		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	c.511C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718322	0.96839	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.2802	15.7433	0.77920	0.0:0.0:1.0:0.0	.	.	.	.	X	166;166;166;166;166;171;171;171;171;171;166;166;166	.	ENSP00000308975:Q166X	Q	-	1	0	MEN1	64332097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.690000	0.91272	2.386000	0.81285	0.462000	0.41574	CAG		0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			A	64575521	G	A	64575521	4	1	217	1	0	0	0	0	0	1	0	0	9472	1357	47	3	1368	3	MEN1	11	64575521	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		64575521	70430995	15	15138											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293418	71293418	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtccagagcctcagaTcttacactggcagcacacgg	9	8	11	13	1	3	2	1	0	2	2	4	2	4	2	2	3	3	2	2	3	1	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71293418T>G	ENST00000398530.1	-	1	503	c.466A>C	c.(466-468)Atc>Ctc	p.I156L	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	156						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCCTCAGATCTTACACTGG	0.542																																						uc001oqu.3																			0		p.K155N(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(466-468)Atc>Ctc		Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.							79	85	83					11																	71293418		2200	4293	6493	SO:0001583	missense	440051					keratin filament		g.chr11:71293418T>G	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.466A>C	11.37:g.71293418T>G	ENSP00000381541:p.Ile156Leu						p.I156L	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			0	504	-			156						Missense_Mutation	SNP	ENST00000398530.1	37	c.466A>C	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	2.974	-0.211726	0.06140	.	.	ENSG00000204571	ENST00000398530	T	0.00892	5.57	1.88	-1.15	0.09709	.	.	.	.	.	T	0.01353	0.0044	M	0.77103	2.36	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49103	-0.8974	9	0.87932	D	0	.	0.1709	0.00113	0.2334:0.1666:0.2364:0.3635	.	156	Q6L8G4	KR511_HUMAN	L	156	ENSP00000381541:I156L	ENSP00000381541:I156L	I	-	1	0	KRTAP5-11	70971066	0.993000	0.37304	0.713000	0.30519	0.050000	0.14768	0.315000	0.19451	-0.266000	0.09339	0.445000	0.29226	ATC		0.542	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		G	71293418	T	G	71293418	3	3	217	1	0	0	0	0	1	0	0	0	8560	1435	50	5	8	5	KRTAP5-11	11	71293418	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	6717897	71293418	63713098	16	15139											
INPPL1	3636	broad.mit.edu	37	chr11	71942586	71942586	+	Frame_Shift_Del	DEL	C	C	-																															atcaaggtggcagtgctggtCaagccagagcacgagaaccg																										TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71942586delC	ENST00000298229.2	+	13	1746	c.1542delC	c.(1540-1542)gtcfs	p.V514fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.V272fs|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.V272fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	514					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGCTGGTCAAGCCAGAGC	0.567																																						uc001osf.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1540-1542)gtcfs		Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.							126	95	105					11																	71942586		2200	4293	6493	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942586delC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1542delC	11.37:g.71942586delC	ENSP00000298229:p.Val514fs					INPPL1_uc001osg.3_Frame_Shift_Del_p.V272fs	p.V514fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN			12	1689	+			514					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.1542delC	CCDS8213.1																																																																																				0.567	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		-	71942586	C	-	71942586	7	5	217	1	0	1	0	1	0	0	0	0	7761	813	29	0	1592	0	INPPL1	11	71942586	Frame_Shift_Del	DEL	C	TCGA-28-5218-01A-01D-1486-08	649168	71942586	63063930	17	15140											
RAB30	27314	broad.mit.edu	37	chr11	82693315	82693315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcttcactgatgagtcgGcatgctaagtcaaggaagag	11	9	13	8	1	2	3	2	2	0	1	3	4	2	4	0	3	1	3	0	3	3	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:82693315G>A	ENST00000533486.1	-	6	788	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RAB30_ENST00000534141.1_3'UTR|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.C168C|RAB30_ENST00000260056.2_Silent_p.C168C	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	168					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGATGAGTCGGCATGCTAAGT	0.438																																						uc001ozu.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(502-504)tgC>tgT		Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.							173	149	157					11																	82693315		2203	4300	6503	SO:0001819	synonymous_variant	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82693315G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"RAB, member RAS oncogene"	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.504C>T	11.37:g.82693315G>A						RAB30_uc009yve.3_Silent_p.C166C|RAB30_uc010rst.2_Silent_p.C168C|RAB30_uc001ozv.3_3'UTR	p.C168C	NM_014488	NP_055303	Q15771	RAB30_HUMAN			5	765	-			168					Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	ENST00000533486.1	37	c.504C>T	CCDS8264.1																																																																																				0.438	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		A	82693315	G	A	82693315	2	1	217	1	0	0	0	0	0	0	0	1	12919	1195	42	3		3	RAB30	11	82693315	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08	10750729	82693315	52313201	18	15141											
SESN3	143686	broad.mit.edu	37	chr11	94924753	94924756	+	Frame_Shift_Del	DEL	TTGC	TTGC	-																															agtacgttcatccactgtgtTtgcttggacaaccttataac																										TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:94924753_94924756delTTGC	ENST00000536441.1	-	3	490_493	c.154_157delGCAA	c.(154-159)gcaaacfs	p.AN52fs	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Frame_Shift_Del_p.AN52fs|SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000393234.1_Frame_Shift_Del_p.AN52fs|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000537480.1_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	52					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCCACTGTGTTTGCTTGGACAACC	0.368																																						uc001pfk.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(154-159)gcaaacfs		Homo sapiens sestrin 3 (SESN3), mRNA.																																				SO:0001589	frameshift_variant	143686				cell cycle arrest	nucleus		g.chr11:94924753_94924756delTTGC	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.154_157delGCAA	11.37:g.94924753_94924756delTTGC	ENSP00000441927:p.Ala52fs					SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Frame_Shift_Del_p.A52fs	p.A52fs	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	2	376_379	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	52					B7Z7P9|Q96AD1	Frame_Shift_Del	DEL	ENST00000536441.1	37	c.154_157delGCAA	CCDS8303.1																																																																																				0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		-	94924756	TTGC	-	94924753	7	5	217	1	0	1	0	1	0	0	0	0	14126	1841	64	0	1353	0	SESN3	11	94924753	Frame_Shift_Del	DEL	TTGC	TCGA-28-5218-01A-01D-1486-08	12231438	94924753	40081763	19	15142											
HELB	92797	broad.mit.edu	37	chr12	66698566	66698566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtgtttggacgttttccGataacaggtgcttggtggag	9	13	14	5	2	0	0	0	0	0	0	1	3	1	2	1	4	2	3	1	4	2	5			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:66698566G>A	ENST00000247815.4	+	2	302	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	81					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGTTTTCCGATAACAGGTG	0.378																																						uc001sti.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(241-243)ccG>ccA		Homo sapiens helicase (DNA) B (HELB), mRNA.							129	126	127					12																	66698566		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698566G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.243G>A	12.37:g.66698566G>A						HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	p.P81P	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	1	271	+			81					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.243G>A	CCDS8976.1																																																																																				0.378	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			A	66698566	G	A	66698566	2	1	217	1	0	0	0	0	0	0	0	1	7045	1045	37	2		2	HELB	12	66698566	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08		66698566	67153329	20	15143											
CABP1	9478	broad.mit.edu	37	chr12	121098105	121098105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctacatgcccaccgagatGgagctcatcgaactgtccca	10	7	10	14	2	1	1	1	0	0	1	3	4	2	2	3	2	4	2	3	2	2	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:121098105G>A	ENST00000316803.3	+	3	926	c.792G>A	c.(790-792)atG>atA	p.M264I	CABP1_ENST00000351200.2_Missense_Mutation_p.M61I|CABP1_ENST00000288616.3_Missense_Mutation_p.M121I|CABP1_ENST00000453000.1_Missense_Mutation_p.M200I	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	264	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACCGAGATGGAGCTCATCG	0.572																																						uc001tyu.3																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(790-792)atG>atA		Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.							121	103	109					12																	121098105		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098105G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.792G>A	12.37:g.121098105G>A	ENSP00000317310:p.Met264Ile					CABP1_uc001tyv.3_Missense_Mutation_p.M121I|CABP1_uc001tyw.3_Missense_Mutation_p.M61I|CABP1_uc001tyx.3_Missense_Mutation_p.M106I	p.M264I	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			2	859	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		264			EF-hand 2.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.792G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296471	0.95574	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.3	5.3	0.74995	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	M	0.76574	2.34	0.80722	D	1	D;P;D;D	0.76494	0.997;0.953;0.999;0.974	D;P;D;D	0.87578	0.994;0.846;0.998;0.984	T	0.02837	-1.1104	10	0.72032	D	0.01	-22.4622	18.9541	0.92650	0.0:0.0:1.0:0.0	.	200;61;121;264	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	I	264;121;61;200	ENSP00000317310:M264I;ENSP00000288616:M121I;ENSP00000288615:M61I;ENSP00000398959:M200I	ENSP00000288616:M121I	M	+	3	0	CABP1	119582488	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.482000	0.83794	0.591000	0.81541	ATG		0.572	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		A	121098105	G	A	121098105	3	1	217	1	0	0	0	0	1	0	0	0	2531	1348	47	3	1035	3	CABP1	12	121098105	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	54399539	121098105	12753790	21	15144											
HERC2	8924	broad.mit.edu	37	chr15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagctgccagcgaggccGcaaggcgagggacgatgctt	10	4	15	12	4	0	0	0	0	0	0	0	4	0	1	2	3	4	3	2	3	2	1	rs575646071		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:28389261G>A	ENST00000261609.7	-	73	11369	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGAGGCCGCAAGGCGAGG	0.537													G|||	1	0.000199681	0	0	5008	,	,		21338	0		0	False		,,,				2504	0.001					uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11260-11262)gCg>gTg		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							112	100	104					15																	28389261		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389261G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11261C>T	15.37:g.28389261G>A	ENSP00000261609:p.Ala3754Val						p.A3754V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	72	11367	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3754						Missense_Mutation	SNP	ENST00000261609.7	37	c.11261C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506069	0.85282	.	.	ENSG00000128731	ENST00000261609	T	0.43688	0.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.45137	1.4	0.80722	D	1	D	0.57899	0.981	P	0.45377	0.478	T	0.36138	-0.9760	10	0.49607	T	0.09	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	3754	O95714	HERC2_HUMAN	V	3754	ENSP00000261609:A3754V	ENSP00000261609:A3754V	A	-	2	0	HERC2	26062856	1.000000	0.71417	0.298000	0.25002	0.539000	0.34962	9.420000	0.97426	2.783000	0.95769	0.655000	0.94253	GCG		0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28389261	G	A	28389261	3	1	217	1	0	0	0	0	1	0	0	0	7058	1087	38	1	3327	1	HERC2	15	28389261	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		28389261	74142131	22	15145											
MRPS34	65993	broad.mit.edu	37	chr16	1823074	1823075	+	Frame_Shift_Ins	INS	-	-	G																															ccgcagggcgcgcacgcggcINSgggccagctccgcgatcagc																										TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:1823074_1823075insG	ENST00000397375.2	-	1	81_82	c.46_47insC	c.(46-48)cgcfs	p.R16fs	NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_Frame_Shift_Ins_p.R16fs|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000568449.1_5'Flank|EME2_ENST00000307394.7_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	16						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GCGCACGCGGCGGGCCAGCTCC	0.723																																						uc002cmo.3																			0				breast(1)|skin(2)	3						c.(46-48)cgcfs		Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001589	frameshift_variant	65993					mitochondrion|ribosome	protein binding	g.chr16:1823074_1823075insG	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"Mitochondrial ribosomal proteins / small subunits"	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.47dupC	16.37:g.1823077_1823077dupG	ENSP00000380531:p.Arg16fs					NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|MRPS34_uc021taj.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	p.R16fs	NM_023936	NP_076425	P82930	RT34_HUMAN			0	66_67	-			16					Q9BVI7	Frame_Shift_Ins	INS	ENST00000397375.2	37	c.46_47insC	CCDS10444.1																																																																																				0.723	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936		G	1823075	-	G	1823074	7	5	217	1	0	1	1	0	0	0	0	0	9843	768	27	0	621	0	MRPS34	16	1823074	Frame_Shift_Ins	INS	-	TCGA-28-5218-01A-01D-1486-08		1823074	88531679	23	15146											
RNF40	9810	broad.mit.edu	37	chr16	30774843	30774843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggggccaacatgtgatggGactcctctcccagagccggg	8	6	15	12	1	1	2	0	1	1	1	3	4	2	3	4	4	2	0	4	4	1	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:30774843G>A	ENST00000324685.6	+	4	840	c.405G>A	c.(403-405)ggG>ggA	p.G135G	RNF40_ENST00000563683.1_Silent_p.G135G|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000357890.5_Silent_p.G135G|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	135					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CATGTGATGGGACTCCTCTCC	0.612																																						uc002dzq.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(403-405)ggG>ggA		Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.							41	43	43					16																	30774843		2197	4300	6497	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774843G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.405G>A	16.37:g.30774843G>A						C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Silent_p.G135G|RNF40_uc010cab.3_Silent_p.G135G|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Silent_p.G135G	p.G135G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		3	1225	+			135					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.405G>A	CCDS10691.1																																																																																				0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30774843	G	A	30774843	2	1	217	1	0	0	0	0	0	0	0	1	13493	1161	41	3		3	RNF40	16	30774843	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08	28951769	30774843	59579910	24	15147											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197186	39197186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccacagtaggatgggCggcagcaggaggcctcggcg	8	5	17	11	3	0	0	0	0	0	0	2	2	1	2	2	6	1	3	2	6	1	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr17:39197186C>T	ENST00000306271.4	-	1	527	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	155						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTAGGATGGGCGGCAGCAGGA	0.637																																						uc002hvw.1																			0				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(463-465)cGc>cAc		Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.							28	33	32					17																	39197186		2057	4174	6231	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197186C>T	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.464G>A	17.37:g.39197186C>T	ENSP00000305975:p.Arg155His						p.R155H	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	528	-		Breast(137;0.000496)	155					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.464G>A	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658632	0.88154	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.47528	0.84	4.46	4.46	0.54185	.	.	.	.	.	T	0.74152	0.3679	M	0.90922	3.16	0.40328	D	0.97889	D	0.89917	1.0	D	0.81914	0.995	T	0.80522	-0.1345	9	0.66056	D	0.02	.	15.4907	0.75602	0.0:1.0:0.0:0.0	.	155	Q07627	KRA11_HUMAN	H	155;145	ENSP00000305975:R155H	ENSP00000305975:R155H	R	-	2	0	KRTAP1-1	36450712	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.110000	0.57831	2.785000	0.95823	0.650000	0.86243	CGC		0.637	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		T	39197186	C	T	39197186	3	4	217	1	0	0	0	0	1	0	0	0	8502	768	27	1	73	1	KRTAP1-1	17	39197186	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		39197186	41998024	25	15148											
C19orf10	56005	broad.mit.edu	37	chr19	4668644	4668644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaggcgtaagtgaacataCacgtatatttgtcctagaga	14	10	11	6	2	0	3	0	1	0	2	1	5	1	3	1	1	2	2	1	1	6	6			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:4668644C>T	ENST00000262947.3	-	2	223	c.188G>A	c.(187-189)tGt>tAt	p.C63Y	C19orf10_ENST00000599630.1_Missense_Mutation_p.C63Y	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	63					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AGTGAACATACACGTATATTT	0.413																																						uc002may.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(187-189)tGt>tAt		Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.							114	100	105					19																	4668644		2203	4300	6503	SO:0001583	missense	56005					ER-Golgi intermediate compartment|extracellular region		g.chr19:4668644C>T	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.188G>A	19.37:g.4668644C>T	ENSP00000262947:p.Cys63Tyr						p.C63Y	NM_019107	NP_061980	Q969H8	CS010_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	1	257	-		Hepatocellular(1079;0.137)	63					D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	c.188G>A	CCDS12133.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175461	0.78564	.	.	ENSG00000074842	ENST00000262947	T	0.73047	-0.71	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	M	0.71581	2.175	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	D	0.84849	0.0812	10	0.87932	D	0	-12.2486	14.7912	0.69844	0.0:1.0:0.0:0.0	.	63	Q969H8	CS010_HUMAN	Y	63	ENSP00000262947:C63Y	ENSP00000262947:C63Y	C	-	2	0	C19orf10	4619644	0.999000	0.42202	0.037000	0.18230	0.664000	0.39144	5.646000	0.67916	2.398000	0.81561	0.561000	0.74099	TGT		0.413	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		T	4668644	C	T	4668644	3	4	217	1	0	0	0	0	1	0	0	0	1908	478	17	3	353	3	C19orf10	19	4668644	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		4668644	54460339	26	15149											
ZNF317	57693	broad.mit.edu	37	chr19	9267420	9267420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacacacccagtgttggttCccaggtgcactaagatctct	9	11	8	13	0	2	1	1	0	1	1	4	1	3	1	2	2	1	3	2	2	1	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:9267420C>T	ENST00000247956.6	+	3	463	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZNF317_ENST00000360385.3_Missense_Mutation_p.S53F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTGTTGGTTCCCAGGTGCAC	0.527																																						uc002mku.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(157-159)tCc>tTc		Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.							98	95	96					19																	9267420		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9267420C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.158C>T	19.37:g.9267420C>T	ENSP00000247956:p.Ser53Phe					ZNF317_uc010xkm.2_Silent_p.F94F|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Missense_Mutation_p.S53F|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR	p.S53F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			2	463	+			53					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.158C>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443046	0.43326	.	.	ENSG00000130803	ENST00000247956;ENST00000360385;ENST00000419608	T;T	0.00808	5.67;5.67	3.04	3.04	0.35103	Krueppel-associated box (1);	0.434403	0.17233	N	0.181874	T	0.00695	0.0023	N	0.08118	0	0.18873	N	0.999989	P;B	0.35656	0.514;0.38	B;B	0.38056	0.264;0.135	T	0.53514	-0.8428	10	0.09590	T	0.72	-22.7796	12.3048	0.54895	0.0:1.0:0.0:0.0	.	53;53	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	F	53;53;67	ENSP00000247956:S53F;ENSP00000353554:S53F	ENSP00000247956:S53F	S	+	2	0	ZNF317	9128420	0.006000	0.16342	0.053000	0.19242	0.036000	0.12997	0.792000	0.26929	1.999000	0.58509	0.585000	0.79938	TCC		0.527	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		T	9267420	C	T	9267420	3	4	217	1	0	0	0	0	1	0	0	0	17832	855	30	3	164	3	ZNF317	19	9267420	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	4598776	9267420	49861563	27	15150											
MAN2B1	4125	broad.mit.edu	37	chr19	12763065	12763065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctggtcactttcgttgtCacctatactggcgttgtacc	5	14	10	12	2	2	0	2	0	0	0	3	0	2	0	3	3	2	3	3	3	3	6			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:12763065C>G	ENST00000456935.2	-	16	1988	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	MAN2B1_ENST00000221363.4_Missense_Mutation_p.D649H	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	650					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTCGTTGTCACCTATACTG	0.597																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1948-1950)Gac>Cac		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							141	110	120					19																	12763065		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12763065C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1948G>C	19.37:g.12763065C>G	ENSP00000395473:p.Asp650His					MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	p.D650H	NM_000528	NP_000519	O00754	MA2B1_HUMAN			15	2024	-			650					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1948G>C	CCDS32919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.111072|3.111072	0.56398|0.56398	.|.	.|.	ENSG00000104774|ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363|ENST00000433513	T;T|.	0.79033|.	-1.23;-1.23|.	5.51|5.51	-5.32|-5.32	0.02722|0.02722	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.700409|.	0.11708|.	N|.	0.537246|.	T|.	0.56187|.	0.1968|.	M|M	0.79011|0.79011	2.435|2.435	0.09310|0.09310	N|N	1|1	B;B|.	0.23806|.	0.02;0.091|.	B;B|.	0.28385|.	0.036;0.089|.	T|.	0.60177|.	-0.7314|.	10|.	0.59425|.	D|.	0.04|.	-10.4062|-10.4062	14.095|14.095	0.65016|0.65016	0.0:0.2442:0.0:0.7558|0.0:0.2442:0.0:0.7558	.|.	649;650|.	G5E928;O00754|.	.;MA2B1_HUMAN|.	H|S	650;589;649|185	ENSP00000395473:D650H;ENSP00000221363:D649H|.	ENSP00000221363:D649H|.	D|X	-|-	1|2	0|2	MAN2B1|MAN2B1	12624065|12624065	0.008000|0.008000	0.16893|0.16893	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.100000|0.100000	0.15231|0.15231	-0.963000|-0.963000	0.03600|0.03600	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.597	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			G	12763065	C	G	12763065	3	3	217	1	0	0	0	0	1	0	0	0	9216	826	29	5	1123	5	MAN2B1	19	12763065	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	3495645	12763065	46365918	28	15151											
TMEM147	10430	broad.mit.edu	37	chr19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgtcatgtcccggaatgCcggcaagggagagtacaaga	11	7	13	10	2	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	4	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:36037641C>T	ENST00000222284.5	+	4	420	c.275C>T	c.(274-276)gCc>gTc	p.A92V	TMEM147_ENST00000392204.2_Missense_Mutation_p.A43V|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.A92V|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	92						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A92V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572																																						uc002oaj.2																			1	Substitution - Missense(1)	p.A92V(2)|p.A92A(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(274-276)gCc>gTc		Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.							103	90	94					19																	36037641		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037641C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.275C>T	19.37:g.36037641C>T	ENSP00000222284:p.Ala92Val					AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	p.A92V	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	415	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		92					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.275C>T	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962852	0.74016	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	.	0.051996	0.85682	D	0.000000	T	0.36744	0.0978	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	P	0.45998	0.5	T	0.07597	-1.0764	10	0.06236	T	0.91	-13.738	16.5222	0.84320	0.0:1.0:0.0:0.0	.	92	Q9BVK8	TM147_HUMAN	V	43;92;92	ENSP00000376040:A43V;ENSP00000222284:A92V;ENSP00000376041:A92V	ENSP00000222284:A92V	A	+	2	0	TMEM147	40729481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	2.764000	0.94973	0.655000	0.94253	GCC		0.572	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		T	36037641	C	T	36037641	3	4	217	1	0	0	0	0	1	0	0	0	16058	739	26	3	289	3	TMEM147	19	36037641	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	23274576	36037641	23091342	29	15152											
EXOSC5	56915	broad.mit.edu	37	chr19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccaatgccatgcaggcgGcattcagacaacaggccagg	12	4	11	14	1	1	1	1	0	0	1	1	1	1	1	4	4	3	2	4	4	2	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552																																						uc002oqo.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(406-408)gCc>gTc		Homo sapiens exosome component 5 (EXOSC5), mRNA.							55	55	55					19																	41895788		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895788G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.407C>T	19.37:g.41895788G>A	ENSP00000221233:p.Ala136Val					BCKDHA_uc002oqm.4_Intron	p.A136V	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			3	430	-			136					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.407C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253259	0.80135	.	.	ENSG00000077348	ENST00000221233	T	0.75938	-0.98	5.03	4.0	0.46444	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.160189	0.53938	N	0.000043	T	0.74831	0.3768	M	0.85630	2.765	0.53005	D	0.999964	P	0.46142	0.873	B	0.38378	0.272	T	0.80605	-0.1308	10	0.87932	D	0	-8.6688	12.5828	0.56399	0.0816:0.0:0.9184:0.0	.	136	Q9NQT4	EXOS5_HUMAN	V	136	ENSP00000221233:A136V	ENSP00000221233:A136V	A	-	2	0	EXOSC5	46587628	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	6.217000	0.72218	1.488000	0.48433	0.650000	0.86243	GCC		0.552	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		A	41895788	G	A	41895788	3	1	217	1	0	0	0	0	1	0	0	0	5318	1203	42	3	312	3	EXOSC5	19	41895788	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	5858147	41895788	17233195	30	15153											
NLRP5	126206	broad.mit.edu	37	chr19	56539217	56539217	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggctgtggagggagtgTggaataggaagtcagtgttt	9	12	18	2	0	1	0	1	0	0	0	1	4	1	4	0	5	0	3	0	5	4	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:56539217T>A	ENST00000390649.3	+	7	1618	c.1618T>A	c.(1618-1620)Tgg>Agg	p.W540R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	540	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGGGAGTGTGGAATAGGAA	0.552																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1618-1620)Tgg>Agg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							52	55	54					19																	56539217		2125	4241	6366	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539217T>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1618T>A	19.37:g.56539217T>A	ENSP00000375063:p.Trp540Arg					NLRP5_uc002qmi.3_Missense_Mutation_p.W521R	p.W540R	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	1618	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	540			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1618T>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.063107	0.55432	.	.	ENSG00000171487	ENST00000390649	T	0.72725	-0.68	2.97	2.97	0.34412	.	0.000000	0.34460	N	0.003956	T	0.80999	0.4732	M	0.81802	2.56	0.33822	D	0.629137	D	0.71674	0.998	D	0.71656	0.974	D	0.85385	0.1122	10	0.87932	D	0	.	7.7557	0.28923	0.0:0.0:0.0:1.0	.	540	P59047	NALP5_HUMAN	R	540	ENSP00000375063:W540R	ENSP00000375063:W540R	W	+	1	0	NLRP5	61231029	0.993000	0.37304	0.878000	0.34440	0.059000	0.15707	1.303000	0.33470	1.602000	0.50124	0.454000	0.30748	TGG		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56539217	T	A	56539217	3	1	217	1	0	0	0	0	1	0	0	0	10480	1696	59	5	1644	5	NLRP5	19	56539217	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	14643429	56539217	2589766	31	15154											
SNRPB	6628	broad.mit.edu	37	chr20	2443779	2443779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgggggaggacccccaCggccaggtgggtactgggtt	6	7	19	9	1	0	0	0	0	0	0	0	2	0	2	3	8	1	2	3	8	2	3	rs376998028		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr20:2443779C>T	ENST00000438552.2	-	5	677	c.515G>A	c.(514-516)cGt>cAt	p.R172H	SNRPB_ENST00000381342.2_Missense_Mutation_p.R172H|SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000339610.6_Missense_Mutation_p.R93H	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	172				RG -> L (in Ref. 4). {ECO:0000305}.	gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGACCCCCACGGCCAGGTGG	0.597																																						uc002wfz.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(514-516)cGt>cAt		Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4384		0,0,2192	48	58	54		515,515	6.2	1	20		54	1,8579		0,1,4289	no	missense,missense	SNRPB	NM_003091.3,NM_198216.1	29,29	0,1,6481	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	172/232,172/241	2443779	1,12963	2192	4290	6482	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr20:2443779C>T		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.515G>A	20.37:g.2443779C>T	ENSP00000412566:p.Arg172His					SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.2_Missense_Mutation_p.R93H|SNRPB_uc002wgb.3_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	p.R172H	NM_198216	NP_937859	P14678	RSMB_HUMAN			4	678	-			172	RG -> L (in Ref. 4).				Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.515G>A	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615241	0.46631	0.0	1.17E-4	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.46451	0.87;0.88	6.17	6.17	0.99709	.	0.050193	0.85682	D	0.000000	T	0.51449	0.1675	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	T	0.53606	-0.8415	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	93;172;172;172	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	H	172;172;172;93	ENSP00000370746:R172H;ENSP00000412566:R172H	ENSP00000303591:R172H	R	-	2	0	SNRPB	2391779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.349000	0.79376	2.941000	0.99782	0.655000	0.94253	CGT		0.597	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			T	2443779	C	T	2443779	3	4	217	1	0	0	0	0	1	0	0	0	14861	536	19	1	234	1	SNRPB	20	2443779	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		2443779	60581741	32	15155											
OTC	5009	broad.mit.edu	37	chrX	38260629	38260629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccaattatcaatgggcTgtcagatttgtaccatccta	11	13	6	11	0	2	1	2	0	0	1	4	1	4	1	3	1	1	2	3	1	5	4			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:38260629T>C	ENST00000039007.4	+	5	640	c.488T>C	c.(487-489)cTg>cCg	p.L163P	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	163					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATCAATGGGCTGTCAGATTTG	0.408																																						uc004def.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(487-489)cTg>cCg		Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	L-Citrulline(DB00155)|L-Ornithine(DB00129)						154	113	127					X																	38260629		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38260629T>C	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.488T>C	X.37:g.38260629T>C	ENSP00000039007:p.Leu163Pro						p.L163P	NM_000531	NP_000522	P00480	OTC_HUMAN			4	702	+			163					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.488T>C	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410636	0.83340	.	.	ENSG00000036473	ENST00000039007	D	0.99226	-5.59	5.97	5.97	0.96955	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97083	0.9785	10	0.87932	D	0	-4.3603	15.388	0.74718	0.0:0.0:0.0:1.0	.	163	P00480	OTC_HUMAN	P	163	ENSP00000039007:L163P	ENSP00000039007:L163P	L	+	2	0	OTC	38145573	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.649000	0.83500	2.018000	0.59344	0.486000	0.48141	CTG		0.408	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			C	38260629	T	C	38260629	3	2	217	1	0	0	0	0	1	0	0	0	11301	1580	55	4	506	4	OTC	23	38260629	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08		38260629	117009931	33	15156											
HUWE1	10075	broad.mit.edu	37	chrX	53569470	53569470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgattcctccctccGgacagacgcctctgactggc	6	9	11	15	2	1	3	0	2	1	1	4	4	4	4	4	3	0	0	4	3	0	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:53569470G>A	ENST00000342160.3	-	73	11867	c.11410C>T	c.(11410-11412)Cgg>Tgg	p.R3804W	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3804W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3804					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCCCTCCGGACAGACGCC	0.502																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11410-11412)Cgg>Tgg		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							116	93	100					X																	53569470		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53569470G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11410C>T	X.37:g.53569470G>A	ENSP00000340648:p.Arg3804Trp					HUWE1_uc004dsn.3_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	p.R3804W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			73	11812	-			3804					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11410C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.998054|2.998054	0.54147|0.54147	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.37584	.|1.19;1.19	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|1.740670	.|0.02794	.|N	.|0.122331	T|T	0.49064|0.49064	0.1535|0.1535	N|N	0.22421|0.22421	0.69|0.69	0.52099|0.52099	D|D	0.999943|0.999943	.|D;D;D	.|0.71674	.|0.996;0.997;0.998	.|P;P;P	.|0.56916	.|0.559;0.556;0.809	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.72032	.|D	.|0.01	.|.	15.8505|15.8505	0.78927|0.78927	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|626;3804;3788	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	L|W	2837;626|3804	.|ENSP00000340648:R3804W;ENSP00000262854:R3804W	.|ENSP00000262854:R3804W	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53586195|53586195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	8.569000|8.569000	0.90744|0.90744	2.457000|2.457000	0.83068|0.83068	0.544000|0.544000	0.68410|0.68410	CCG|CGG		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53569470	G	A	53569470	3	1	217	1	0	0	0	0	1	0	0	0	7461	1115	39	2	1758	2	HUWE1	23	53569470	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	15308841	53569470	101701090	34	15157											
GABRD	2563	broad.mit.edu	37	chr1	1957086	1957086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcccgacaccttcatcGtgaacgccaagtcggcctgg	7	7	12	15	4	1	1	1	1	0	0	3	2	1	1	4	3	2	1	4	3	2	1	rs562124721		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:1957086G>A	ENST00000378585.4	+	4	462	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	127					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACCTTCATCGTGAACGCCAA	0.637																																						uc001aip.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(379-381)Gtg>Atg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.							105	100	102					1																	1957086		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957086G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.379G>A	1.37:g.1957086G>A	ENSP00000367848:p.Val127Met						p.V127M	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	474	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	127					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.379G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468842	0.84533	.	.	ENSG00000187730	ENST00000378585	T	0.78816	-1.21	4.54	4.54	0.55810	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85797	0.1371	10	0.48119	T	0.1	-8.9562	16.8321	0.85947	0.0:0.0:1.0:0.0	.	127	O14764	GBRD_HUMAN	M	127	ENSP00000367848:V127M	ENSP00000367848:V127M	V	+	1	0	GABRD	1946946	1.000000	0.71417	0.668000	0.29813	0.530000	0.34684	5.156000	0.64905	2.525000	0.85131	0.561000	0.74099	GTG		0.637	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		A	1957086	G	A	1957086	3	1	218	1	0	0	0	0	1	0	0	0	6169	1145	40	1	393	1	GABRD	1	1957086	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		1957086	247293535	1	15158											
RERE	473	broad.mit.edu	37	chr1	8419978	8419978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttggccagcttggacccgGccagaggcatgaagtacagg	9	7	14	11	1	1	2	0	1	1	1	1	3	1	3	3	5	2	3	3	5	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8419978G>A	ENST00000337907.3	-	20	4098	c.3464C>T	c.(3463-3465)gCc>gTc	p.A1155V	RERE_ENST00000476556.1_Missense_Mutation_p.A601V|RERE_ENST00000400908.2_Missense_Mutation_p.A1155V|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.A887V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1155					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGGACCCGGCCAGAGGCAT	0.597																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3463-3465)gCc>gTc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							58	62	60					1																	8419978		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8419978G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3464C>T	1.37:g.8419978G>A	ENSP00000338629:p.Ala1155Val					RERE_uc001apf.3_Missense_Mutation_p.A1155V|RERE_uc001apd.3_Missense_Mutation_p.A601V	p.A1155V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	4274	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1155					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3464C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111830	0.56398	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.48201	0.82;0.83;1.01;0.82	5.56	3.68	0.42216	.	.	.	.	.	T	0.52451	0.1735	L	0.51422	1.61	0.49299	D	0.999772	D	0.61697	0.99	P	0.57152	0.814	T	0.50558	-0.8814	9	0.56958	D	0.05	-12.1912	7.5175	0.27608	0.0754:0.0:0.6281:0.2965	.	1155	Q9P2R6	RERE_HUMAN	V	1155;887;601;1155	ENSP00000338629:A1155V;ENSP00000366684:A887V;ENSP00000422246:A601V;ENSP00000383700:A1155V	ENSP00000338629:A1155V	A	-	2	0	RERE	8342565	1.000000	0.71417	0.938000	0.37757	0.406000	0.30931	6.588000	0.74076	0.692000	0.31613	-0.181000	0.13052	GCC		0.597	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8419978	G	A	8419978	3	1	218	1	0	0	0	0	1	0	0	0	13231	1203	42	3	1256	3	RERE	1	8419978	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	6462892	8419978	240830643	2	15159											
RERE	473	broad.mit.edu	37	chr1	8684379	8684379	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcttaccagtttgaagTcttgaatgctacagatgaaa	15	11	8	7	1	1	4	0	3	1	1	1	4	1	4	1	0	4	3	1	0	6	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8684379T>G	ENST00000337907.3	-	4	1020	c.386A>C	c.(385-387)gAc>gCc	p.D129A	RERE_ENST00000400908.2_Missense_Mutation_p.D129A|RERE_ENST00000400907.2_Missense_Mutation_p.D129A	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	129	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D129V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTTTGAAGTCTTGAATGCT	0.383																																						uc001ape.3																			1	Substitution - Missense(1)	p.D129V(2)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(385-387)gAc>gCc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							174	165	168					1																	8684379		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8684379T>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.386A>C	1.37:g.8684379T>G	ENSP00000338629:p.Asp129Ala					RERE_uc001apf.3_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	p.D129A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	1196	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	129			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.386A>C	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.24|15.24	2.775323|2.775323	0.49786|0.49786	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.85556|.	-2.0;-2.0;-2.0|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.48572|0.48572	0.1507|0.1507	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.45760|0.45760	-0.9239|-0.9239	9|5	0.72032|.	D|.	0.01|.	-24.7115|-24.7115	15.3794|15.3794	0.74641|0.74641	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129|.	Q9P2R6|.	RERE_HUMAN|.	A|P	129|21	ENSP00000338629:D129A;ENSP00000383699:D129A;ENSP00000383700:D129A|.	ENSP00000338629:D129A|.	D|T	-|-	2|1	0|0	RERE|RERE	8606966|8606966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.337000|7.337000	0.79256|0.79256	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	GAC|ACT		0.383	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			G	8684379	T	G	8684379	3	3	218	1	0	0	0	0	1	0	0	0	13231	1667	58	5	4398	5	RERE	1	8684379	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	264401	8684379	240566242	3	15160											
KPNA6	23633	broad.mit.edu	37	chr1	32622514	32622514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgttcgatagtcttCtcatggactcttatgtgagc	7	15	9	10	1	3	1	1	1	3	0	5	3	3	2	1	1	2	1	1	1	2	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:32622514C>A	ENST00000373625.3	+	3	292	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	KPNA6_ENST00000537234.1_Missense_Mutation_p.L64I|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.L72I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	67					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGATAGTCTTCTCATGGACTC	0.468																																						uc010ogy.2																			0				large_intestine(2)	2						c.(214-216)Ctc>Atc		Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.							146	136	139					1																	32622514		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32622514C>A	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.199C>A	1.37:g.32622514C>A	ENSP00000362728:p.Leu67Ile					KPNA6_uc001bug.3_Missense_Mutation_p.L67I|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.L64I	p.L72I	NM_012316	NP_036448	O60684	IMA7_HUMAN			2	241	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	67					B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.214C>A	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821925	0.50633	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.29142	1.58;1.58;1.58;2.51	5.39	5.39	0.77823	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	N	0.11560	0.145	0.58432	D	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15484	0.008;0.013;0.008	T	0.04268	-1.0964	10	0.34782	T	0.22	-3.5442	19.5354	0.95251	0.0:1.0:0.0:0.0	.	72;72;67	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	I	67;41;64;72;18	ENSP00000362728:L67I;ENSP00000444930:L64I;ENSP00000440609:L72I;ENSP00000415677:L18I	ENSP00000362719:L41I	L	+	1	0	KPNA6	32395101	0.985000	0.35326	1.000000	0.80357	0.990000	0.78478	2.596000	0.46205	2.709000	0.92574	0.655000	0.94253	CTC		0.468	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		A	32622514	C	A	32622514	3	1	218	1	0	0	0	0	1	0	0	0	8434	913	32	5	209	5	KPNA6	1	32622514	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	23938135	32622514	216628107	4	15161											
HPCA	3208	broad.mit.edu	37	chr1	33354728	33354728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctttgacaccaacagcGatggcaccatagactttcgg	11	8	9	13	2	0	2	0	1	0	1	1	3	0	2	3	2	2	2	3	2	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:33354728G>A	ENST00000373467.3	+	2	331	c.229G>A	c.(229-231)Gat>Aat	p.D77N	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCAACAGCGATGGCACCAT	0.547																																						uc001bwh.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(229-231)Gat>Aat		Homo sapiens hippocalcin (HPCA), mRNA.							142	126	131					1																	33354728		2203	4300	6503	SO:0001583	missense	3208						actin binding|calcium ion binding	g.chr1:33354728G>A	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"EF-hand domain containing"	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.229G>A	1.37:g.33354728G>A	ENSP00000362566:p.Asp77Asn						p.D77N	NM_002143	NP_002134	P84074	HPCA_HUMAN			1	269	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	77			EF-hand 2.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	c.229G>A	CCDS370.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042103	0.93685	.	.	ENSG00000121905	ENST00000373467	T	0.72835	-0.69	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	L	0.45698	1.435	0.80722	D	1	D	0.54207	0.965	P	0.46917	0.531	T	0.64896	-0.6299	10	0.22706	T	0.39	.	17.9008	0.88902	0.0:0.0:1.0:0.0	.	77	P84074	HPCA_HUMAN	N	77	ENSP00000362566:D77N	ENSP00000362566:D77N	D	+	1	0	HPCA	33127315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.565000	0.98154	2.894000	0.99253	0.655000	0.94253	GAT		0.547	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		A	33354728	G	A	33354728	3	1	218	1	0	0	0	0	1	0	0	0	7329	1058	37	2	231	2	HPCA	1	33354728	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	732214	33354728	215895893	5	15162											
JAK1	3716	broad.mit.edu	37	chr1	65301859	65301860	+	Frame_Shift_Ins	INS	-	-	AT																															aagaccagacgtcagaggcaINSatataaaatttagattgcat																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:65301859_65301860insAT	ENST00000342505.4	-	23	3427_3428	c.3179_3180insAT	c.(3178-3180)attfs	p.I1060fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1060	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CGTCAGAGGCAATATAAAATTT	0.421			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3178-3180)attfs		Homo sapiens Janus kinase 1 (JAK1), mRNA.																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301859_65301860insAT	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3178_3179dupAT	1.37:g.65301862_65301863dupAT	ENSP00000343204:p.Ile1060fs					JAK1_uc009wam.1_Frame_Shift_Ins_p.I1060fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs	p.I1060fs	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3428_3429	-			1060			Protein kinase 2.		Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.3179_3180insAT	CCDS41346.1																																																																																				0.421	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		AT	65301860	-	AT	65301859	7	5	218	1	0	1	1	0	0	0	0	0	7937	126	5	0	296	0	JAK1	1	65301859	Frame_Shift_Ins	INS	-	TCGA-28-5219-01A-01D-1486-08	31947131	65301859	183948762	6	15163											
CDC73	79577	broad.mit.edu	37	chr1	193099308	193099309	+	Frame_Shift_Ins	INS	-	-	AAATATT																															aaattttggttttagactgaINSaaatattcctgtggttagaa																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:193099308_193099309insAAATATT	ENST00000367435.3	+	3	426_427	c.242_243insAAATATT	c.(241-246)gaaaatfs	p.-82fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73						cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTTAGACTGAAAATATTCCTG	0.292																																						uc001gtb.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(241-243)gaafs		Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.																																				SO:0001589	frameshift_variant	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193099308_193099309insAAATATT	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.243_249dupAAATATT	1.37:g.193099309_193099315dupAAATATT	ENSP00000356405:p.Asn82fs						p.E81fs	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			2	485_486	+			81					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Frame_Shift_Ins	INS	ENST00000367435.3	37	c.242_243insAAATATT	CCDS1382.1																																																																																				0.292	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		AAATATT	193099309	-	AAATATT	193099308	7	5	218	1	0	1	1	0	0	0	0	0	3085	246	9	0	252	0	CDC73	1	193099308	Frame_Shift_Ins	INS	-	TCGA-28-5219-01A-01D-1486-08	127797449	193099308	56151313	7	15164											
NAV1	89796	broad.mit.edu	37	chr1	201782286	201782286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcccttgcttctttctgtCgtgtcccattggcattgagg	4	15	11	11	1	2	1	0	1	2	0	4	1	3	1	2	3	1	2	2	3	0	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:201782286C>T	ENST00000367296.4	+	28	5660	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	NAV1_ENST00000367300.3_Missense_Mutation_p.S1687L|NAV1_ENST00000367302.1_Missense_Mutation_p.S1700L|NAV1_ENST00000367295.1_Missense_Mutation_p.S1353L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.S1739L|NAV1_ENST00000295624.6_Missense_Mutation_p.S1744L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1747					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTTCTGTCGTGTCCCATT	0.507																																						uc021phi.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(5239-5241)tCg>tTg		Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.							156	127	137					1																	201782286		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201782286C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5240C>T	1.37:g.201782286C>T	ENSP00000356265:p.Ser1747Leu					NAV1_uc001gwu.3_Missense_Mutation_p.S1744L|NAV1_uc001gwx.3_Missense_Mutation_p.S1353L	p.S1747L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			27	5587	+			1747					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.5240C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	35	5.564761	0.96527	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.10960	2.9;2.82;2.83;2.83;2.9;2.82	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.00773	-1.1572	10	0.72032	D	0.01	-29.1924	20.1575	0.98120	0.0:1.0:0.0:0.0	.	1353;1744	Q8NEY1-5;Q8NEY1-3	.;.	L	1700;1747;1744;1739;1687;1353;157	ENSP00000356271:S1700L;ENSP00000356265:S1747L;ENSP00000295624:S1744L;ENSP00000356266:S1739L;ENSP00000356269:S1687L;ENSP00000356264:S1353L	ENSP00000295624:S1744L	S	+	2	0	NAV1	200048909	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.795000	0.85887	2.850000	0.98022	0.650000	0.86243	TCG		0.507	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201782286	C	T	201782286	3	4	218	1	0	0	0	0	1	0	0	0	10183	893	31	2	5407	2	NAV1	1	201782286	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	8682978	201782286	47468335	8	15165											
RYR2	6262	broad.mit.edu	37	chr1	237936883	237936883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattgatgaacaaggacaaCggaatttctccaaagctatc	15	11	7	8	1	1	2	0	2	1	0	3	4	1	4	1	2	3	1	1	2	7	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:237936883C>T	ENST00000366574.2	+	87	12027	c.11710C>T	c.(11710-11712)Cgg>Tgg	p.R3904W	RYR2_ENST00000542537.1_Missense_Mutation_p.R3888W|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3910W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3904					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAAGGACAACGGAATTTCTC	0.338																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11710-11712)Cgg>Tgg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							118	112	113					1																	237936883		1838	4090	5928	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237936883C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11710C>T	1.37:g.237936883C>T	ENSP00000355533:p.Arg3904Trp					RYR2_uc010pya.2_Missense_Mutation_p.R319W	p.R3904W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		86	11830	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3904					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11710C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573773	0.65765	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95272	-3.66;-3.66;-3.66	5.04	3.12	0.35913	RyR/IP3R Homology associated domain (1);	0.000000	0.53938	U	0.000049	D	0.94935	0.8362	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.971;0.98	D	0.94433	0.7651	10	0.72032	D	0.01	-12.1556	13.0854	0.59138	0.4469:0.5531:0.0:0.0	.	878;3904	B4DGV4;Q92736	.;RYR2_HUMAN	W	3904;3910;3888;878	ENSP00000355533:R3904W;ENSP00000353174:R3910W;ENSP00000443798:R3888W	ENSP00000353174:R3910W	R	+	1	2	RYR2	236003506	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.162000	0.31786	0.587000	0.29643	0.579000	0.79373	CGG		0.338	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237936883	C	T	237936883	3	4	218	1	0	0	0	0	1	0	0	0	13769	527	19	1	12056	1	RYR2	1	237936883	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	36154597	237936883	11313738	9	15166											
RRM2	6241	broad.mit.edu	37	chr2	10264898	10264898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcccgctgtttctatggcTtccaaattgccatggaaaac	11	11	8	11	1	1	0	0	0	1	0	2	1	2	1	3	2	3	3	3	2	5	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:10264898T>C	ENST00000304567.5	+	5	559	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	RRM2_ENST00000360566.2_Missense_Mutation_p.F224L	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	164					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TTTCTATGGCTTCCAAATTGC	0.383																																						uc021vdr.1																			0		p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19						c.(670-672)Ttc>Ctc		Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.							79	81	80					2																	10264898		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10264898T>C		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.490T>C	2.37:g.10264898T>C	ENSP00000302955:p.Phe164Leu						p.F224L	NM_001034	NP_001159403	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	4	721	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		164					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.670T>C	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193470	0.78902	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97430	-4.38;-4.38;-4.29	4.95	4.95	0.65309	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.043421	0.85682	D	0.000000	D	0.97945	0.9324	H	0.96365	3.81	0.80722	D	1	B	0.32188	0.359	B	0.37346	0.247	D	0.98922	1.0784	10	0.87932	D	0	-13.071	14.627	0.68629	0.0:0.0:0.0:1.0	.	164	P31350	RIR2_HUMAN	L	224;164;114	ENSP00000353770:F224L;ENSP00000302955:F164L;ENSP00000419177:F114L	ENSP00000302955:F164L	F	+	1	0	RRM2	10182349	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.951000	0.87819	1.856000	0.53863	0.379000	0.24179	TTC		0.383	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			C	10264898	T	C	10264898	3	2	218	1	0	0	0	0	1	0	0	0	13682	1609	56	4	688	4	RRM2	2	10264898	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08		10264898	232934475	10	15167											
POLR1A	25885	broad.mit.edu	37	chr2	86272410	86272410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacattttacctttggagaTagcctgagcggctggttttc	8	15	10	8	1	0	2	0	1	0	1	1	3	0	2	2	3	4	2	2	3	3	7			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:86272410T>C	ENST00000263857.6	-	21	3338	c.2960A>G	c.(2959-2961)tAt>tGt	p.Y987C	POLR1A_ENST00000409681.1_Missense_Mutation_p.Y987C			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	987					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTTGGAGATAGCCTGAGCG	0.522																																						uc002sqs.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2959-2961)tAt>tGt		Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.							73	79	77					2																	86272410		1920	4125	6045	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272410T>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2960A>G	2.37:g.86272410T>C	ENSP00000263857:p.Tyr987Cys					POLR1A_uc010ytb.2_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	p.Y987C	NM_015425	NP_056240	O95602	RPA1_HUMAN			20	3339	-			987					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2960A>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706390	0.48412	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.93076	-3.16;-3.16	5.75	5.75	0.90469	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	-18.4544	16.0545	0.80788	0.0:0.0:0.0:1.0	.	987	O95602	RPA1_HUMAN	C	987	ENSP00000263857:Y987C;ENSP00000386300:Y987C	ENSP00000263857:Y987C	Y	-	2	0	POLR1A	86125921	1.000000	0.71417	0.998000	0.56505	0.347000	0.29111	7.691000	0.84191	2.195000	0.70347	0.533000	0.62120	TAT		0.522	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		C	86272410	T	C	86272410	3	2	218	1	0	0	0	0	1	0	0	0	12209	1406	49	4	2258	4	POLR1A	2	86272410	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	76007512	86272410	156926963	11	15168											
GLI2	2736	broad.mit.edu	37	chr2	121744096	121744096	+	Frame_Shift_Del	DEL	G	G	-																															caccggttcgagcagctcaaGaaggagaagctcaagtcact																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:121744096delG	ENST00000452319.1	+	13	2259	c.2199delG	c.(2197-2199)aagfs	p.K734fs	GLI2_ENST00000314490.11_Frame_Shift_Del_p.K406fs|GLI2_ENST00000361492.4_Frame_Shift_Del_p.K734fs					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGCTCAAGAAGGAGAAGC	0.647																																						uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2197-2199)aagfs		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							82	76	78					2																	121744096		2203	4300	6503	SO:0001589	frameshift_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744096delG		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2199delG	2.37:g.121744096delG	ENSP00000390436:p.Lys734fs					GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.4_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.4_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs	p.K733fs	NM_005270	NP_005261	P10070	GLI2_HUMAN			11	2229	+	Renal(3;0.0496)	Prostate(154;0.0623)	733						Frame_Shift_Del	DEL	ENST00000452319.1	37	c.2199delG	CCDS33283.1																																																																																				0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		-	121744096	G	-	121744096	7	5	218	1	0	1	0	1	0	0	0	0	6438	933	33	0	2245	0	GLI2	2	121744096	Frame_Shift_Del	DEL	G	TCGA-28-5219-01A-01D-1486-08	35471686	121744096	121455277	12	15169											
TTN	7273	broad.mit.edu	37	chr2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttggccttcagccaccGtccattaggaaggtctctct	8	11	10	12	1	3	0	1	0	2	0	5	2	4	1	4	3	1	1	4	3	3	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179438951G>A	ENST00000591111.1	-	276	67209	c.66985C>T	c.(66985-66987)Cgg>Tgg	p.R22329W	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23970W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15030W|TTN_ENST00000460472.2_Missense_Mutation_p.R14905W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15097W|TTN_ENST00000342992.6_Missense_Mutation_p.R21402W|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22329	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413																																						uc021vsy.1																			0		p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64204-64206)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							64	61	62					2																	179438951		1887	4113	6000	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438951G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66985C>T	2.37:g.179438951G>A	ENSP00000465570:p.Arg22329Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	p.R21402W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	64429	-			22329			Fibronectin type-III 55.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64204C>T		.	.	.	.	.	.	.	.	.	.	G	10.41	1.343879	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.66	1.67	0.24075	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77698	0.4169	M	0.92507	3.315	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82699	-0.0328	9	0.87932	D	0	.	15.5028	0.75713	0.0:0.0:0.5284:0.4716	.	14905;15030;15097;22329	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	21402;14905;15097;15030;14903	ENSP00000343764:R21402W;ENSP00000434586:R14905W;ENSP00000340554:R15097W;ENSP00000352154:R15030W	ENSP00000340554:R15097W	R	-	1	2	TTN	179147197	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	5.712000	0.68407	0.025000	0.15241	-0.320000	0.08662	CGG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179438951	G	A	179438951	3	1	218	1	0	0	0	0	1	0	0	0	16732	1144	40	1	36219	1	TTN	2	179438951	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	57694855	179438951	63760422	13	15170											
TTN	7273	broad.mit.edu	37	chr2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgcctgtatgagatCgtttacactccggaataata	11	15	8	7	2	0	1	0	1	0	1	2	3	1	2	2	1	2	3	2	1	6	7			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179466465C>A	ENST00000591111.1	-	236	50653	c.50429G>T	c.(50428-50430)cGa>cTa	p.R16810L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18451L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9511L|TTN_ENST00000460472.2_Missense_Mutation_p.R9386L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9578L|TTN_ENST00000342992.6_Missense_Mutation_p.R15883L|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16810	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATGAGATCGTTTACACTC	0.363																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47647-47649)cGa>cTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							133	120	124					2																	179466465		1849	4089	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466465C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50429G>T	2.37:g.179466465C>A	ENSP00000465570:p.Arg16810Leu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578L|TTN_uc021vta.1_Missense_Mutation_p.R9511L|TTN_uc021vtb.1_Missense_Mutation_p.R9386L	p.R15883L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		234	47873	-			16810			Fibronectin type-III 15.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47648G>T		.	.	.	.	.	.	.	.	.	.	C	15.88	2.963075	0.53507	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61553	0.2356	L	0.45698	1.435	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.61426	-0.7065	9	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	9386;9511;9578;16810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15883;9386;9578;9511;9386	ENSP00000343764:R15883L;ENSP00000434586:R9386L;ENSP00000340554:R9578L;ENSP00000352154:R9511L	ENSP00000340554:R9578L	R	-	2	0	TTN	179174710	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.664000	0.68045	2.746000	0.94184	0.563000	0.77884	CGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179466465	C	A	179466465	3	1	218	1	0	0	0	0	1	0	0	0	16732	884	31	5	52649	5	TTN	2	179466465	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	27514	179466465	63732908	14	15171											
DNAH7	56171	broad.mit.edu	37	chr2	196825609	196825609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcttggatttttttacGttgaggatatacagatggta	10	16	10	5	1	1	2	0	1	1	1	1	4	1	4	1	3	2	2	1	3	4	9	rs534363346		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:196825609G>A	ENST00000312428.6	-	18	2366	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	756	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTTTTTACGTTGAGGATAT	0.368													G|||	1	0.000199681	0	0	5008	,	,		18914	0		0	False		,,,				2504	0.001					uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2266-2268)Cgt>Tgt		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							83	76	78					2																	196825609		1848	4087	5935	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825609G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2266C>T	2.37:g.196825609G>A	ENSP00000311273:p.Arg756Cys						p.R756C	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			17	2367	-			756			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2266C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047429	0.75846	.	.	ENSG00000118997	ENST00000312428	T	0.60797	0.16	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.059579	0.64402	D	0.000002	T	0.80914	0.4715	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83377	0.0010	10	0.87932	D	0	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	756	Q8WXX0	DYH7_HUMAN	C	756	ENSP00000311273:R756C	ENSP00000311273:R756C	R	-	1	0	DNAH7	196533854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.618000	0.61211	2.708000	0.92522	0.650000	0.86243	CGT		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196825609	G	A	196825609	3	1	218	1	0	0	0	0	1	0	0	0	4606	1145	40	1	10000	1	DNAH7	2	196825609	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	17359144	196825609	46373764	15	15172											
SUSD5	26032	broad.mit.edu	37	chr3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtggttgccatgatcGttgaggggatgtggttaggt	5	13	19	4	1	0	2	0	2	0	0	1	3	0	3	1	6	1	4	1	6	1	3	rs372702857		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:33194586G>A	ENST00000309558.3	-	5	1955	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	513					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		21630	0		0	False		,,,				2504	0					uc003cfo.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1537-1539)aCg>aTg		Homo sapiens sushi domain containing 5 (SUSD5), mRNA.		G	MET/THR	3,4107		0,3,2052	171	181	177		1538	2.8	0	3		177	0,8410		0,0,4205	no	missense	SUSD5	NM_015551.1	81	0,3,6257	AA,AG,GG		0.0,0.073,0.024	possibly-damaging	513/630	33194586	3,12517	2055	4205	6260	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194586G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1538C>T	3.37:g.33194586G>A	ENSP00000308727:p.Thr513Met						p.T513M	NM_015551	NP_056366	O60279	SUSD5_HUMAN			4	1956	-			513						Missense_Mutation	SNP	ENST00000309558.3	37	c.1538C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.994069	0.19043	7.3E-4	0.0	ENSG00000173705	ENST00000309558	T	0.08193	3.12	5.56	2.75	0.32379	.	0.843298	0.10411	N	0.677863	T	0.14830	0.0358	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.53689	0.732	T	0.18429	-1.0337	10	0.39692	T	0.17	-6.4031	5.0228	0.14370	0.0719:0.3327:0.4103:0.1852	.	513	O60279	SUSD5_HUMAN	M	513	ENSP00000308727:T513M	ENSP00000308727:T513M	T	-	2	0	SUSD5	33169590	0.067000	0.21026	0.015000	0.15790	0.253000	0.25986	1.843000	0.39259	0.280000	0.22209	-0.133000	0.14855	ACG		0.522	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		A	33194586	G	A	33194586	3	1	218	1	0	0	0	0	1	0	0	0	15408	1145	40	1	355	1	SUSD5	3	33194586	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		33194586	164827844	16	15173											
STAB1	23166	broad.mit.edu	37	chr3	52551109	52551109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggctacatgggcgaCggggagctgtgccagggtga	8	6	19	8	2	0	1	0	1	0	0	0	4	0	3	1	6	3	2	1	6	1	1	rs373996604		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:52551109C>T	ENST00000321725.6	+	42	4549	c.4473C>T	c.(4471-4473)gaC>gaT	p.D1491D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1491	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGGGCGACGGGGAGCTGT	0.622																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4471-4473)gaC>gaT		Homo sapiens stabilin 1 (STAB1), mRNA.		C		0,4402		0,0,2201	38	41	40		4473	-7.5	0.1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STAB1	NM_015136.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		1491/2571	52551109	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551109C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4473C>T	3.37:g.52551109C>T						STAB1_uc003dek.1_5'Flank	p.D1491D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	41	4547	+			1491			EGF-like 11.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4473C>T	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52551109	C	T	52551109	2	4	218	1	0	0	0	0	0	0	0	1	15236	535	19	1		1	STAB1	3	52551109	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	19356523	52551109	145471321	17	15174											
TMEM14E	645843	broad.mit.edu	37	chr3	152058532	152058532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggattccgtgatggctgAgaagcatccaggcctgctaa	9	11	12	9	1	0	2	0	2	0	1	2	4	2	3	3	3	2	3	3	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:152058532A>G	ENST00000408960.3	-	1	247	c.162T>C	c.(160-162)tcT>tcC	p.S54S	MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000282488.7_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	54						integral component of membrane (GO:0016021)				lung(1)	1						GTGATGGCTGAGAAGCATCCA	0.453																																						uc010hvo.3																			0				lung(1)	1						c.(160-162)tcT>tcC		Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.							90	81	84					3																	152058532		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058532A>G		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.162T>C	3.37:g.152058532A>G						MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	p.S54S	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN			0	248	-			54						Silent	SNP	ENST00000408960.3	37	c.162T>C	CCDS43161.1																																																																																				0.453	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		G	152058532	A	G	152058532	2	3	218	1	0	0	0	0	0	0	0	1	16063	291	11	4		4	TMEM14E	3	152058532	Silent	SNP	A	TCGA-28-5219-01A-01D-1486-08	99507423	152058532	45963898	18	15175											
PDE6B	5158	broad.mit.edu	37	chr4	619881	619881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacgtcgaggacgtggccGaggtgggtctgtgcggagcc	6	7	19	9	5	1	1	0	1	1	0	2	5	1	3	2	5	3	0	2	5	1	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:619881G>A	ENST00000496514.1	+	1	487	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PDE6B_ENST00000255622.6_Missense_Mutation_p.E156K			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	156	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGACGTGGCCGAGGTGGGTCT	0.642																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(466-468)Gag>Aag		Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.							15	11	12					4																	619881		2183	4287	6470	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619881G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.466G>A	4.37:g.619881G>A	ENSP00000420295:p.Glu156Lys					PDE6B_uc003gao.4_Missense_Mutation_p.E156K	p.E156K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN			0	519	+			156			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.466G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706302	0.03230	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.67698	-0.28;-0.28	4.88	3.05	0.35203	GAF (2);	0.174072	0.49305	D	0.000153	T	0.51702	0.1690	L	0.35723	1.085	0.80722	D	1	B;B	0.23854	0.092;0.075	B;B	0.27380	0.079;0.079	T	0.40346	-0.9568	10	0.05436	T	0.98	.	12.6751	0.56889	0.0:0.3175:0.6825:0.0	.	156;156	P35913;P35913-2	PDE6B_HUMAN;.	K	156	ENSP00000255622:E156K;ENSP00000420295:E156K	ENSP00000255622:E156K	E	+	1	0	PDE6B	609881	0.439000	0.25610	0.465000	0.27155	0.201000	0.24016	0.623000	0.24447	0.425000	0.26087	0.561000	0.74099	GAG		0.642	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		A	619881	G	A	619881	3	1	218	1	0	0	0	0	1	0	0	0	11646	1059	37	2	468	2	PDE6B	4	619881	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		619881	190534395	19	15176											
HS3ST1	9957	broad.mit.edu	37	chr4	11401266	11401266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcgacgtgaaatacgCgggggtcttctccactgtga	7	11	14	9	4	2	2	0	2	2	0	3	3	2	2	1	3	1	0	1	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:11401266C>T	ENST00000002596.5	-	2	1538	c.364G>A	c.(364-366)Gcg>Acg	p.A122T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	122					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTGAAATACGCGGGGGTCTTC	0.612																																						uc003gmq.3																			0		p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(364-366)Gcg>Acg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.							69	69	69					4																	11401266		2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401266C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.364G>A	4.37:g.11401266C>T	ENSP00000002596:p.Ala122Thr					HS3ST1_uc021xmg.1_Missense_Mutation_p.A122T	p.A122T	NM_005114	NP_005105	O14792	HS3S1_HUMAN			1	687	-			122					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.364G>A	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148097	0.94603	.	.	ENSG00000002587	ENST00000002596	D	0.81908	-1.55	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.110120	0.64402	D	0.000010	D	0.84745	0.5540	L	0.27944	0.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78841	-0.2045	10	0.10636	T	0.68	.	18.9896	0.92786	0.0:1.0:0.0:0.0	.	122	O14792	HS3S1_HUMAN	T	122	ENSP00000002596:A122T	ENSP00000002596:A122T	A	-	1	0	HS3ST1	11010364	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	GCG		0.612	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		T	11401266	C	T	11401266	3	4	218	1	0	0	0	0	1	0	0	0	7363	768	27	1	563	1	HS3ST1	4	11401266	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	10781385	11401266	179753010	20	15177											
UGT2A1	10941	broad.mit.edu	37	chr4	70455276	70455276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggctcctttgtggcgCatgacaaactcgatccagaa	9	11	10	11	2	0	2	0	1	0	1	3	3	2	2	2	2	2	3	2	2	2	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:70455276C>T	ENST00000503640.1	-	6	1453	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	UGT2A2_ENST00000457664.2_Missense_Mutation_p.M475I|UGT2A1_ENST00000514019.1_Missense_Mutation_p.M632I|UGT2A1_ENST00000512704.1_Missense_Mutation_p.M422I|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000286604.4_Missense_Mutation_p.M466I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	466					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGTGGCGCATGACAAACT	0.478																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1894-1896)atG>atA		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							135	132	133					4																	70455276		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455276C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1398G>A	4.37:g.70455276C>T	ENSP00000424478:p.Met466Ile					UGT2A1_uc010ihu.3_Missense_Mutation_p.M466I|UGT2A1_uc003hem.4_Missense_Mutation_p.M466I|UGT2A1_uc010ihs.3_Missense_Mutation_p.M475I|UGT2A1_uc021xox.1_Missense_Mutation_p.M431I|UGT2A1_uc010iht.3_Missense_Mutation_p.M422I	p.M632I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			6	2012	-			466					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1896G>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608331	0.87258	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.65	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	L	0.33245	0.995	.	.	.	D;D;D;P;P	0.71674	0.969;0.998;0.959;0.729;0.906	D;D;P;B;P	0.70227	0.968;0.955;0.721;0.269;0.527	T	0.78628	-0.2130	9	0.56958	D	0.05	.	12.7377	0.57234	0.1661:0.8339:0.0:0.0	.	632;632;422;475;466	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	I	475;466;422;632;466	ENSP00000387888:M475I;ENSP00000424478:M466I;ENSP00000421432:M422I;ENSP00000425497:M632I;ENSP00000286604:M466I	ENSP00000286604:M466I	M	-	3	0	UGT2A1	70489865	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.677000	0.61634	1.269000	0.44280	0.579000	0.79373	ATG		0.478	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		T	70455276	C	T	70455276	3	4	218	1	0	0	0	0	1	0	0	0	16950	710	25	3	189	3	UGT2A1	4	70455276	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	59054010	70455276	120699000	21	15178											
ODAM	54959	broad.mit.edu	37	chr4	71062419	71062419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttagcttatcccacAgcgtctcatgtctgccagca	8	14	6	13	1	2	0	1	0	2	0	4	0	3	0	2	0	5	2	2	0	3	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:71062419A>T	ENST00000396094.2	+	2	110	c.62A>T	c.(61-63)cAg>cTg	p.Q21L		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	21					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTTATCCCACAGCGTCTCATG	0.333																																						uc003hfc.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(61-63)cAg>cTg		Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.							67	61	63					4																	71062419		1824	4079	5903	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71062419A>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.62A>T	4.37:g.71062419A>T	ENSP00000379401:p.Gln21Leu						p.Q21L	NM_017855	NP_060325	A1E959	ODAM_HUMAN			1	79	+			21					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.62A>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347089	0.41599	.	.	ENSG00000109205	ENST00000396094	T	0.55930	0.49	5.39	4.22	0.49857	.	.	.	.	.	T	0.62319	0.2418	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.63629	-0.6594	9	0.72032	D	0.01	-1.8234	7.7062	0.28650	0.9075:0.0:0.0925:0.0	.	21	A1E959	ODAM_HUMAN	L	21	ENSP00000379401:Q21L	ENSP00000379401:Q21L	Q	+	2	0	ODAM	71097008	0.887000	0.30362	0.863000	0.33907	0.190000	0.23558	0.699000	0.25586	1.076000	0.40961	0.528000	0.53228	CAG		0.333	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		T	71062419	A	T	71062419	3	4	218	1	0	0	0	0	1	0	0	0	10824	188	7	5	68	5	ODAM	4	71062419	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	607143	71062419	120091857	22	15179											
MAST4	375449	broad.mit.edu	37	chr5	66084566	66084566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagacgtccaacctcGtgcgcatgcgcagccaggcc	8	5	12	16	4	0	1	0	0	0	1	2	2	1	1	4	1	5	3	4	1	1	0	rs369899614		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:66084566G>A	ENST00000403625.2	+	3	881	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	MAST4_ENST00000406039.1_Missense_Mutation_p.V196M|MAST4_ENST00000406374.1_Missense_Mutation_p.V196M|MAST4_ENST00000404260.3_Missense_Mutation_p.V196M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	196						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTCCAACCTCGTGCGCATGCG	0.657																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(586-588)Gtg>Atg		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							31	32	32					5																	66084566		1888	4110	5998	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66084566G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.586G>A	5.37:g.66084566G>A	ENSP00000385727:p.Val196Met					MAST4_uc010iwz.3_Missense_Mutation_p.V196M|MAST4_uc003jur.4_Missense_Mutation_p.V196M	p.V196M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	2	894	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	196					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.586G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265679	0.80358	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.73258	-0.71;-0.73;0.75;0.85;0.33	5.67	2.39	0.29439	.	0.213226	0.30473	N	0.009545	T	0.76392	0.3981	L	0.59436	1.845	0.26006	N	0.982053	D;D	0.76494	0.992;0.999	P;D	0.65323	0.674;0.934	T	0.66348	-0.5946	10	0.87932	D	0	.	7.9284	0.29889	0.0738:0.1143:0.6844:0.1275	.	196;196	E7EX28;O15021-4	.;.	M	196;196;196;196;68;3	ENSP00000385048:V196M;ENSP00000385727:V196M;ENSP00000385088:V196M;ENSP00000384547:V196M;ENSP00000413573:V68M	ENSP00000385727:V196M	V	+	1	0	MAST4	66120322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.312000	0.59154	0.714000	0.32081	0.557000	0.71058	GTG		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66084566	G	A	66084566	3	1	218	1	0	0	0	0	1	0	0	0	9327	1145	40	1	596	1	MAST4	5	66084566	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		66084566	114830694	23	15180											
PCDHA1	56147	broad.mit.edu	37	chr5	140167892	140167892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatctctggtggagagcGgccaggcgccaaaggcgtct	7	9	15	10	3	2	1	0	0	2	1	3	2	2	1	2	5	1	1	2	5	2	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140167892G>A	ENST00000504120.2	+	1	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAGGCGCC	0.657																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2017-2019)Ggc>Agc		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							42	47	46					5																	140167892		2201	4300	6501	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167892G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2017G>A	5.37:g.140167892G>A	ENSP00000420840:p.Gly673Ser					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G673S	p.G673S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2017	+			682			Cadherin 6.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2017G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	6.117	0.389862	0.11581	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52057	0.71;0.68	3.89	2.02	0.26589	Cadherin (2);	0.372159	0.19064	N	0.123692	T	0.21267	0.0512	N	0.20574	0.59	0.19775	N	0.999954	B;B	0.32409	0.37;0.17	B;B	0.24394	0.033;0.053	T	0.27905	-1.0060	10	0.05351	T	0.99	.	6.1681	0.20402	0.2562:0.0:0.7438:0.0	.	673;673	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	S	673	ENSP00000420840:G673S;ENSP00000367373:G673S	ENSP00000367373:G673S	G	+	1	0	PCDHA1	140148076	0.096000	0.21769	0.110000	0.21437	0.007000	0.05969	1.293000	0.33353	0.220000	0.20860	0.650000	0.86243	GGC		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167892	G	A	140167892	3	1	218	1	0	0	0	0	1	0	0	0	11519	1116	39	2	2019	2	PCDHA1	5	140167892	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	74083326	140167892	40747368	24	15181											
SLC44A4	80736	broad.mit.edu	37	chr6	31838592	31838592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggacactcacgggCggccagccaggtctcctgca	7	5	15	14	2	2	0	1	0	1	0	3	1	2	1	3	5	2	2	3	5	0	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:31838592C>T	ENST00000229729.6	-	10	954	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	SLC44A4_ENST00000375562.4_Missense_Mutation_p.A270T|SLC44A4_ENST00000544672.1_Missense_Mutation_p.A236T	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	312					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692																																						uc010jti.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(934-936)Gcc>Acc		Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	Choline(DB00122)						45	41	43					6																	31838592		1510	2707	4217	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31838592C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.934G>A	6.37:g.31838592C>T	ENSP00000229729:p.Ala312Thr					SLC44A4_uc011dol.2_Missense_Mutation_p.A236T|SLC44A4_uc011dom.2_Missense_Mutation_p.A270T	p.A312T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			9	1000	-			312					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.934G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547968	0.45383	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22336	1.96;1.96;1.96	4.38	4.38	0.52667	.	0.211492	0.41938	D	0.000783	T	0.11067	0.0270	M	0.69823	2.125	0.23909	N	0.996491	P;B	0.35077	0.483;0.22	B;B	0.29862	0.065;0.108	T	0.05869	-1.0859	10	0.66056	D	0.02	.	9.9245	0.41483	0.0:0.9042:0.0:0.0958	.	270;312	E9PEK7;Q53GD3	.;CTL4_HUMAN	T	312;270;236	ENSP00000229729:A312T;ENSP00000364712:A270T;ENSP00000444109:A236T	ENSP00000229729:A312T	A	-	1	0	SLC44A4	31946571	0.535000	0.26370	0.181000	0.23098	0.802000	0.45316	1.641000	0.37197	2.445000	0.82738	0.561000	0.74099	GCC		0.692	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			T	31838592	C	T	31838592	3	4	218	1	0	0	0	0	1	0	0	0	14638	768	27	1	1246	1	SLC44A4	6	31838592	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		31838592	139276475	25	15182											
COL19A1	1310	broad.mit.edu	37	chr6	70637867	70637867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttcgagtacgaagaaaCgccaaaaaggaacggtggtt	15	8	12	6	4	0	1	0	0	0	1	1	4	0	2	1	3	3	3	1	3	6	3	rs143252227		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:70637867C>T	ENST00000322773.4	+	5	435	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	111	Laminin G-like.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). {ECO:0000305}.	cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACGAAGAAACGCCAAAAAGG	0.428													C|||	1	0.000199681	8e-04	0	5008	,	,		19092	0		0	False		,,,				2504	0					uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(331-333)aaC>aaT		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.		C		3,4403	6.2+/-15.9	0,3,2200	125	126	126		333	1	0.4	6	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	COL19A1	NM_001858.4		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		111/1143	70637867	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637867C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.333C>T	6.37:g.70637867C>T						COL19A1_uc010kam.2_Silent_p.N7N	p.N111N	NM_001858	NP_001849	Q14993	COJA1_HUMAN			4	450	+			111	FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).		TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.333C>T	CCDS4970.1																																																																																				0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70637867	C	T	70637867	2	4	218	1	0	0	0	0	0	0	0	1	3676	535	19	1		1	COL19A1	6	70637867	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	38799275	70637867	100477200	26	15183											
AHR	196	broad.mit.edu	37	chr7	17378648	17378648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatttacgaaaacgaaataCgaagttgccttttatgttta	14	14	7	6	3	0	0	0	0	0	0	0	3	0	0	1	0	4	3	1	0	8	8			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:17378648C>T	ENST00000242057.4	+	10	1842	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	400					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AAACGAAATACGAAGTTGCCT	0.333																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1198-1200)aCg>aTg		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							126	130	129					7																	17378648		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17378648C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1199C>T	7.37:g.17378648C>T	ENSP00000242057:p.Thr400Met						p.T400M	NM_001621	NP_001612	P35869	AHR_HUMAN			9	1812	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		400					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1199C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.769069	0.00645	.	.	ENSG00000106546	ENST00000242057	T	0.04317	3.65	6.07	-12.1	0.00011	.	1.306250	0.04617	N	0.401417	T	0.00967	0.0032	N	0.00427	-1.505	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37244	-0.9714	10	0.02654	T	1	.	8.157	0.31176	0.0752:0.4399:0.0769:0.4081	.	400	P35869	AHR_HUMAN	M	400	ENSP00000242057:T400M	ENSP00000242057:T400M	T	+	2	0	AHR	17345173	0.078000	0.21339	0.000000	0.03702	0.097000	0.18754	0.403000	0.20982	-2.618000	0.00441	-1.640000	0.00773	ACG		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		T	17378648	C	T	17378648	3	4	218	1	0	0	0	0	1	0	0	0	416	536	19	1	1237	1	AHR	7	17378648	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		17378648	141760015	27	15184											
RABGEF1	27342	broad.mit.edu	37	chr7	66240279	66240279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggggcccaatccctcaCattctccaagtttgaagaaa	13	8	7	13	0	2	2	1	1	1	1	4	2	3	2	4	2	0	1	4	2	5	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:66240279C>T	ENST00000284957.5	+	3	322	c.245C>T	c.(244-246)aCa>aTa	p.T82I	RABGEF1_ENST00000437078.2_Missense_Mutation_p.T96I|RABGEF1_ENST00000450873.2_Missense_Mutation_p.T82I|KCTD7_ENST00000451741.2_Missense_Mutation_p.T82I|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.T95I|KCTD7_ENST00000510829.2_Missense_Mutation_p.T82I|KCTD7_ENST00000380828.2_Missense_Mutation_p.T122I			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	260					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCCTCACATTCTCCAAG	0.483																																						uc003tvf.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27								Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							46	46	46					7																	66240279		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240279C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.245C>T	7.37:g.66240279C>T	ENSP00000284957:p.Thr82Ile					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.T82I|RABGEF1_uc010lag.3_Missense_Mutation_p.T82I|RABGEF1_uc011kee.2_Missense_Mutation_p.T96I|RABGEF1_uc003tvi.3_5'UTR		NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			5		+								B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37		CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.207920	0.79240	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.49139	1.56;0.8;0.8;0.8;0.8;0.79;0.79	5.56	5.56	0.83823	.	0.108809	0.64402	D	0.000008	T	0.47893	0.1470	L	0.43152	1.355	0.80722	D	1	P	0.44877	0.845	B	0.43478	0.421	T	0.48747	-0.9008	10	0.54805	T	0.06	-17.0002	18.5215	0.90954	0.0:1.0:0.0:0.0	.	96	B4DZM7	.	I	127;122;82;82;82;82;82;95;96	ENSP00000370208:T122I;ENSP00000421124:T82I;ENSP00000398177:T82I;ENSP00000284957:T82I;ENSP00000415815:T82I;ENSP00000403429:T95I;ENSP00000390480:T96I	ENSP00000370207:T127I	T	+	2	0	RABGEF1;KCTD7	65877714	0.999000	0.42202	0.998000	0.56505	0.985000	0.73830	7.478000	0.81082	2.616000	0.88540	0.650000	0.86243	ACA		0.483	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		T	66240279	C	T	66240279	3	4	218	1	0	0	0	0	1	0	0	0	12966	478	17	3	251	3	RABGEF1	7	66240279	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	48861631	66240279	92898384	28	15185											
PCLO	27445	broad.mit.edu	37	chr7	82784650	82784650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactggagtctttgtaGgcccaggtgccttagctgga	7	11	14	9	0	1	1	0	1	1	0	1	3	1	3	2	4	3	3	2	4	3	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:82784650G>A	ENST00000333891.9	-	2	1644	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PCLO_ENST00000423517.2_Missense_Mutation_p.P436L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTCTTTGTAGGCCCAGGTGC	0.587																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1306-1308)cCt>cTt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							98	100	99					7																	82784650		1994	4162	6156	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784650G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1307C>T	7.37:g.82784650G>A	ENSP00000334319:p.Pro436Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P436L	p.P436L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1596	-			388			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1307C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401904	0.25291	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.31;2.28	5.09	4.21	0.49690	.	.	.	.	.	T	0.18173	0.0436	L	0.43923	1.385	0.20074	N	0.999933	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.16188	-1.0411	9	0.87932	D	0	.	13.9524	0.64126	0.0738:0.0:0.9262:0.0	.	436;436	Q9Y6V0-5;Q9Y6V0-6	.;.	L	436	ENSP00000334319:P436L;ENSP00000388393:P436L	ENSP00000334319:P436L	P	-	2	0	PCLO	82622586	0.996000	0.38824	0.116000	0.21606	0.949000	0.60115	5.132000	0.64758	1.293000	0.44690	0.655000	0.94253	CCT		0.587	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82784650	G	A	82784650	3	1	218	1	0	0	0	0	1	0	0	0	11583	1000	35	3	14234	3	PCLO	7	82784650	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	16544371	82784650	76354013	29	15186											
SEMA3D	223117	broad.mit.edu	37	chr7	84671590	84671590	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaggctgcgttgtccTcctacatcattctgacatga	8	15	7	11	1	3	2	2	2	1	0	5	2	5	2	2	1	2	2	2	1	2	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:84671590T>C	ENST00000284136.6	-	8	916	c.873A>G	c.(871-873)ggA>ggG	p.G291G	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	291	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCGTTGTCCTCCTACATCAT	0.378																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(871-873)ggA>ggG		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.							247	226	233					7																	84671590		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671590T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.873A>G	7.37:g.84671590T>C						SEMA3D_uc010led.3_Silent_p.G291G|SEMA3D_uc003uib.3_5'Flank	p.G291G	NM_152754	NP_689967	O95025	SEM3D_HUMAN			7	913	-			291			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.873A>G	CCDS34676.1																																																																																				0.378	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		C	84671590	T	C	84671590	2	2	218	1	0	0	0	0	0	0	0	1	14027	1538	54	4		4	SEMA3D	7	84671590	Silent	SNP	T	TCGA-28-5219-01A-01D-1486-08	1886940	84671590	74467073	30	15187											
AKAP9	10142	broad.mit.edu	37	chr7	91708676	91708676	+	Frame_Shift_Del	DEL	C	C	-																															aaccgctaatgaagaaatgaCcttcatgaaaaatgtactta																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:91708676delC	ENST00000359028.2	+	32	7490	c.7265delC	c.(7264-7266)accfs	p.T2422fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.T2410fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.T2422fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2422	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAAATGACCTTCATGAAA	0.353			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7228-7230)accfs		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							46	49	48					7																	91708676		2202	4299	6501	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708676delC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7265delC	7.37:g.91708676delC	ENSP00000351922:p.Thr2422fs					AKAP9_uc003ulf.3_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.T180fs	p.T2410fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		30	7454	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2422			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.7229delC																																																																																					0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		-	91708676	C	-	91708676	7	5	218	1	0	1	0	1	0	0	0	0	459	507	18	0	7351	0	AKAP9	7	91708676	Frame_Shift_Del	DEL	C	TCGA-28-5219-01A-01D-1486-08	7037086	91708676	67429987	31	15188											
AP4M1	9179	broad.mit.edu	37	chr7	99702962	99702962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgcttgcaaccacctcAgggcgaggtcagggttgggg	6	7	15	13	2	2	0	2	0	0	0	3	1	3	0	4	5	2	3	4	5	1	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:99702962A>T	ENST00000359593.4	+	10	985	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	AP4M1_ENST00000429084.1_Missense_Mutation_p.Q283L|AP4M1_ENST00000422582.1_Missense_Mutation_p.Q148L|AP4M1_ENST00000421755.1_Missense_Mutation_p.Q276L	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	276	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACCACCTCAGGGCGAGGTC	0.552																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(826-828)cAg>cTg		Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.							80	84	82					7																	99702962		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99702962A>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.827A>T	7.37:g.99702962A>T	ENSP00000352603:p.Gln276Leu					AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utd.3_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.2_Missense_Mutation_p.Q228L|AP4M1_uc003ute.4_Missense_Mutation_p.Q51L|AP4M1_uc003utf.4_Missense_Mutation_p.Q148L	p.Q276L	NM_004722	NP_004713	O00189	AP4M1_HUMAN			9	1035	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		276			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.827A>T	CCDS5685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.043666|4.043666	0.75732|0.75732	.|.	.|.	ENSG00000221838|ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582;ENST00000450807|ENST00000445295	T;T;T;T;T;T;T|.	0.18960|.	2.18;2.18;2.18;2.18;2.18;2.18;2.18|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);|.	0.115074|.	0.64402|.	D|.	0.000012|.	T|T	0.65790|0.65790	0.2725|0.2725	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;D|.	0.60160|.	0.713;0.864;0.935;0.987|.	B;P;P;P|.	0.58820|.	0.376;0.471;0.655;0.846|.	T|T	0.65092|0.65092	-0.6252|-0.6252	10|5	0.87932|.	D|.	0|.	-5.3909|-5.3909	12.9215|12.9215	0.58234|0.58234	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	232;228;283;276|.	C9JMG3;B4DKN7;C9JC87;O00189|.	.;.;.;AP4M1_HUMAN|.	L|W	208;283;276;232;276;148;28|2	ENSP00000401613:Q208L;ENSP00000403663:Q283L;ENSP00000352603:Q276L;ENSP00000414286:Q232L;ENSP00000412185:Q276L;ENSP00000406676:Q148L;ENSP00000391585:Q28L|.	ENSP00000352603:Q276L|.	Q|R	+|+	2|1	0|2	AP4M1|AP4M1	99540898|99540898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	4.138000|4.138000	0.58017|0.58017	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.552	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		T	99702962	A	T	99702962	3	4	218	1	0	0	0	0	1	0	0	0	753	188	7	5	865	5	AP4M1	7	99702962	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	7994286	99702962	59435701	32	15189											
RELN	5649	broad.mit.edu	37	chr7	103293088	103293088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacaggcaagacatggAaaaagtctacagcccagaca	18	3	11	9	0	1	3	0	0	1	3	1	5	1	4	1	3	3	1	1	3	5	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:103293088A>G	ENST00000428762.1	-	14	1832	c.1673T>C	c.(1672-1674)tTc>tCc	p.F558S	RELN_ENST00000424685.2_Missense_Mutation_p.F558S|RELN_ENST00000343529.5_Missense_Mutation_p.F558S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	558					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGACATGGAAAAAGTCTAC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.F558L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1672-1674)tTc>tCc		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							158	154	155					7																	103293088		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103293088A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1673T>C	7.37:g.103293088A>G	ENSP00000392423:p.Phe558Ser					RELN_uc022ajq.1_Missense_Mutation_p.F558S|RELN_uc010liz.3_Missense_Mutation_p.F558S	p.F558S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	13	1833	-			558					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1673T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947027	0.73672	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	5.67	5.67	0.87782	.	0.096403	0.64402	D	0.000001	T	0.22322	0.0538	L	0.27053	0.805	0.44789	D	0.997795	P;B	0.35272	0.493;0.361	B;B	0.35971	0.215;0.203	T	0.03641	-1.1017	10	0.59425	D	0.04	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	558;558	P78509-2;P78509	.;RELN_HUMAN	S	558	ENSP00000392423:F558S;ENSP00000345694:F558S;ENSP00000388446:F558S	ENSP00000345694:F558S	F	-	2	0	RELN	103080324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.288000	0.76882	0.533000	0.62120	TTC		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103293088	A	G	103293088	3	3	218	1	0	0	0	0	1	0	0	0	13220	246	9	4	8917	4	RELN	7	103293088	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	3590126	103293088	55845575	33	15190											
REPIN1	29803	broad.mit.edu	37	chr7	150068992	150068992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccaggggccgccccgCggtgaccgccccccggcccg	2	1	15	23	7	0	1	0	1	0	0	0	1	0	1	10	5	0	0	10	5	0	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:150068992C>T	ENST00000425389.2	+	1	740	c.662C>T	c.(661-663)gCg>gTg	p.A221V	REPIN1_ENST00000397281.2_Missense_Mutation_p.A221V|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.A278V|REPIN1_ENST00000444957.1_Missense_Mutation_p.A221V|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.A221V|REPIN1_ENST00000466559.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	221					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ggccgccccgcggtgaccgcc	0.711																																						uc010lpr.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(832-834)gCg>gTg		Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.							9	11	10					7																	150068992		1758	3931	5689	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068992C>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.662C>T	7.37:g.150068992C>T	ENSP00000388287:p.Ala221Val					REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpq.1_Missense_Mutation_p.A221V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	p.A278V	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	1026	+	Ovarian(565;0.183)|Melanoma(164;0.226)		221					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.833C>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911039	0.33721	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08546	3.12;3.12;3.12;3.08;3.4;3.22;3.12	5.08	4.19	0.49359	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	0.999999	B;P	0.49862	0.046;0.929	B;B	0.41571	0.007;0.36	T	0.27673	-1.0067	9	0.54805	T	0.06	-6.2403	5.7236	0.18000	0.1948:0.7082:0.0:0.097	.	278;221	C9J3L7;Q9BWE0	.;REPI1_HUMAN	V	221;221;221;278;280;281;221	ENSP00000445016:A221V;ENSP00000380451:A221V;ENSP00000407714:A221V;ENSP00000417291:A278V;ENSP00000419789:A280V;ENSP00000419872:A281V;ENSP00000388287:A221V	ENSP00000380451:A221V	A	+	2	0	REPIN1	149699925	0.307000	0.24500	0.064000	0.19789	0.965000	0.64279	0.876000	0.28092	2.353000	0.79882	0.462000	0.41574	GCG		0.711	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		T	150068992	C	T	150068992	3	4	218	1	0	0	0	0	1	0	0	0	13227	768	27	1	839	1	REPIN1	7	150068992	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	46775904	150068992	9069671	34	15191											
MLL3	58508	broad.mit.edu	37	chr7	151904459	151904459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttagtttcatcatccacaGcttcccgctcaggactagat	9	12	6	14	1	3	1	3	0	0	1	5	2	5	2	3	1	1	3	3	1	2	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:151904459G>C	ENST00000262189.6	-	24	3985	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	KMT2C_ENST00000355193.2_Missense_Mutation_p.A1256G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1256					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCATCCACAGCTTCCCGCTC	0.393																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(3766-3768)gCt>gGt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							130	117	122					7																	151904459		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151904459G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3767C>G	7.37:g.151904459G>C	ENSP00000262189:p.Ala1256Gly					MLL3_uc003wkz.3_Missense_Mutation_p.A317G	p.A1256G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	23	3986	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1256					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3767C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001596	0.35320	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.82;-1.83	5.73	3.93	0.45458	.	0.326617	0.21320	N	0.076488	T	0.73377	0.3579	N	0.22421	0.69	0.80722	D	1	P;B	0.36282	0.546;0.328	B;B	0.31614	0.133;0.1	T	0.73040	-0.4108	10	0.40728	T	0.16	.	11.7033	0.51583	0.1415:0.0:0.8585:0.0	.	1256;317	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1256	ENSP00000262189:A1256G;ENSP00000347325:A1256G	ENSP00000262189:A1256G	A	-	2	0	MLL3	151535392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.845000	0.55880	1.437000	0.47472	0.557000	0.71058	GCT		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151904459	G	C	151904459	3	2	218	1	0	0	0	0	1	0	0	0	9622	971	34	5	11112	5	MLL3	7	151904459	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	1835467	151904459	7234204	35	15192											
UBE3C	9690	broad.mit.edu	37	chr7	157000142	157000142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggggttctcctatgtcttTtgaagattctagtcgaatca	9	15	9	8	1	4	2	1	1	3	1	6	3	4	2	1	2	0	1	1	2	4	6			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:157000142T>C	ENST00000348165.5	+	12	1829	c.1469T>C	c.(1468-1470)tTt>tCt	p.F490S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	490					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTATGTCTTTTGAAGATTCT	0.358																																						uc010lqs.3																			0		p.S489T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1468-1470)tTt>tCt		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							177	173	174					7																	157000142		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000142T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1469T>C	7.37:g.157000142T>C	ENSP00000309198:p.Phe490Ser					UBE3C_uc003wng.2_Missense_Mutation_p.F490S	p.F490S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	11	1781	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	490					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1469T>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555813	0.45487	.	.	ENSG00000009335	ENST00000348165	T	0.39592	1.07	5.26	5.26	0.73747	.	0.178567	0.51477	D	0.000098	T	0.34890	0.0913	L	0.44542	1.39	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.001;0.005	T	0.15492	-1.0435	10	0.11794	T	0.64	.	15.1561	0.72743	0.0:0.0:0.0:1.0	.	490;490	Q15386;Q15386-2	UBE3C_HUMAN;.	S	490	ENSP00000309198:F490S	ENSP00000309198:F490S	F	+	2	0	UBE3C	156692903	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.650000	0.67944	1.982000	0.57802	0.533000	0.62120	TTT		0.358	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		C	157000142	T	C	157000142	3	2	218	1	0	0	0	0	1	0	0	0	16878	1841	64	4	1515	4	UBE3C	7	157000142	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	5095683	157000142	2138521	36	15193											
SGK223	157285	broad.mit.edu	37	chr8	8234543	8234543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgggtctgggctgtccCggccccagccagatgctgct	4	9	15	13	1	1	1	0	0	1	1	2	2	2	1	4	3	3	4	4	3	0	1	rs552652315		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr8:8234543C>T	ENST00000520004.1	-	3	1640	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	SGK223_ENST00000330777.4_Missense_Mutation_p.R459Q			Q86YV5	SG223_HUMAN		461							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGGCTGTCCCGGCCCCAGCC	0.622													C|||	1	0.000199681	0	0	5008	,	,		17709	0.001		0	False		,,,				2504	0				GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(1375-1377)cGg>cAg		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							46	53	50					8																	8234543		2073	4215	6288	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234543C>T																												ENST00000520004.1:c.1376G>A	8.37:g.8234543C>T	ENSP00000428054:p.Arg459Gln						p.R459Q	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			1	1376	-			459					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1376G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	6.207	0.406355	0.11754	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59638	0.25;0.25	4.23	-8.46	0.00942	.	1.075870	0.07244	N	0.864715	T	0.44477	0.1295	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	10	0.38643	T	0.18	.	17.2052	0.86916	0.0:0.7916:0.0:0.2084	.	459	Q86YV5	SG223_HUMAN	Q	459	ENSP00000330930:R459Q;ENSP00000428054:R459Q	ENSP00000330930:R459Q	R	-	2	0	AC068353.1	8271953	0.000000	0.05858	0.306000	0.25113	0.121000	0.20230	-1.464000	0.02359	-1.869000	0.01141	-1.021000	0.02439	CGG		0.622	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8234543	C	T	8234543	3	4	218	1	0	0	0	0	1	0	0	0	14210	652	23	2	2848	2	SGK223	8	8234543	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		8234543	138129479	37	15194											
CNTNAP3	79937	broad.mit.edu	37	chr9	39140559	39140559	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcccagggggccactTccatctgcatcaatatagta	11	10	9	11	0	2	0	1	0	1	0	4	0	4	0	3	3	1	2	3	3	5	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:39140559T>A	ENST00000297668.6	-	12	1906	c.1833A>T	c.(1831-1833)ggA>ggT	p.G611G	CNTNAP3_ENST00000377656.2_Silent_p.G611G|CNTNAP3_ENST00000377659.1_Silent_p.G611G|CNTNAP3_ENST00000323947.7_Silent_p.G518G|CNTNAP3_ENST00000358144.2_Silent_p.G523G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	611	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCCACTTCCATCTGCAT	0.453																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1831-1833)ggA>ggT		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.							49	57	54					9																	39140559		2203	4300	6503	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140559T>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1833A>T	9.37:g.39140559T>A						CNTNAP3_uc004abj.3_Silent_p.G611G|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.G611G|CNTNAP3_uc011lqs.1_Silent_p.G518G	p.G611G	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	11	2072	-			611			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.1833A>T	CCDS6616.1																																																																																				0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39140559	T	A	39140559	2	1	218	1	0	0	0	0	0	0	0	1	3648	1770	62	5		5	CNTNAP3	9	39140559	Silent	SNP	T	TCGA-28-5219-01A-01D-1486-08		39140559	102072872	38	15195											
ZNF618	114991	broad.mit.edu	37	chr9	116810979	116810979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatccccgaaaaggagcGgcagaacatcgcagagcggc	13	3	13	12	4	0	3	0	1	0	2	2	5	1	4	2	3	3	2	2	3	3	0	rs371074016		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:116810979G>A	ENST00000374126.5	+	15	1496	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	ZNF618_ENST00000288466.7_Missense_Mutation_p.R373Q|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAAAAGGAGCGGCAGAACATC	0.552																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1396-1398)cGg>cAg		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.		G	GLN/ARG	0,4074		0,0,2037	97	101	100		1118	5.2	1	9		100	1,8343		0,1,4171	no	missense	ZNF618	NM_133374.2	43	0,1,6208	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	373/862	116810979	1,12417	2037	4172	6209	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116810979G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1397G>A	9.37:g.116810979G>A	ENSP00000363241:p.Arg466Gln					ZNF618_uc004bic.3_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.2_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.2_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.3_Missense_Mutation_p.R56Q	p.R466Q	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			14	1496	+			466					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1397G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.466481	0.84425	0.0	1.2E-4	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.03212	4.01	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	.	.	.	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.79784	0.945;0.992;0.993	T	0.00199	-1.1928	9	0.72032	D	0.01	-21.1032	17.637	0.88125	0.0:0.0:1.0:0.0	.	433;466;373	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	Q	466;373	ENSP00000288466:R373Q	ENSP00000288466:R373Q	R	+	2	0	ZNF618	115850800	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.188000	0.94921	2.402000	0.81655	0.561000	0.74099	CGG		0.552	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116810979	G	A	116810979	3	1	218	1	0	0	0	0	1	0	0	0	18039	1116	39	2	1172	2	ZNF618	9	116810979	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	77670420	116810979	24402452	39	15196											
PNPLA7	375775	broad.mit.edu	37	chr9	140389550	140389550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggccaattctgagtcccGaacggcatgcaccgtggtcg	7	9	12	13	4	1	1	0	1	1	0	3	2	2	1	3	3	2	2	3	3	2	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:140389550G>A	ENST00000277531.4	-	18	2173	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R269W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R688W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	663					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTGAGTCCCGAACGGCATGC	0.687																																						uc010ncj.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2062-2064)Cgg>Tgg		Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.							92	83	86					9																	140389550		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140389550G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1987C>T	9.37:g.140389550G>A	ENSP00000277531:p.Arg663Trp					PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R663W	p.R688W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2399	-	all_cancers(76;0.126)		663					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2062C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.633084	0.47049	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.65	3.75	0.43078	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	H	0.96633	3.855	0.80722	D	1	D;P	0.52996	0.957;0.941	B;P	0.50970	0.399;0.655	T	0.76058	-0.3098	10	0.87932	D	0	-32.4114	10.8772	0.46917	0.0942:0.0:0.9058:0.0	.	688;663	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	269;663;688;663;654	ENSP00000360512:R269W;ENSP00000277531:R663W;ENSP00000384610:R688W;ENSP00000400582:R654W	ENSP00000277531:R663W	R	-	1	2	PNPLA7	139509371	0.495000	0.26051	0.716000	0.30569	0.026000	0.11368	1.050000	0.30404	1.089000	0.41292	-0.152000	0.13540	CGG		0.687	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140389550	G	A	140389550	3	1	218	1	0	0	0	0	1	0	0	0	12170	1057	37	2	2034	2	PNPLA7	9	140389550	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	23578571	140389550	823881	40	15197											
C10orf2	56652	broad.mit.edu	37	chr10	102748161	102748161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccgccagtatttgcGggggcatgggatccccttcc	7	10	12	12	2	0	1	0	1	0	0	3	2	3	2	5	3	1	2	5	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr10:102748161G>A	ENST00000311916.2	+	1	379	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	C10orf2_ENST00000370228.1_Missense_Mutation_p.R65Q|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	65					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R65Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTATTTGCGGGGGCATGGG	0.572																																						uc001ksf.2																			1	Substitution - Missense(1)	p.R65Q(2)	skin(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(193-195)cGg>cAg		Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.							97	101	100					10																	102748161		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748161G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.194G>A	10.37:g.102748161G>A	ENSP00000309595:p.Arg65Gln					MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R65Q|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	p.R65Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	0	869	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	65					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.194G>A	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850193	0.91277	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95980	-3.6;-3.87	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	M	0.65498	2.005	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	D	0.97637	1.0146	10	0.72032	D	0.01	-15.8217	18.1752	0.89759	0.0:0.0:1.0:0.0	.	65;65	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	Q	65	ENSP00000309595:R65Q;ENSP00000359248:R65Q	ENSP00000309595:R65Q	R	+	2	0	C10orf2	102738151	1.000000	0.71417	0.963000	0.40424	0.747000	0.42532	7.625000	0.83145	2.631000	0.89168	0.442000	0.29010	CGG		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		A	102748161	G	A	102748161	3	1	218	1	0	0	0	0	1	0	0	0	1597	1116	39	2	196	2	C10orf2	10	102748161	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		102748161	32786586	41	15198											
OR5L2	26338	broad.mit.edu	37	chr11	55594981	55594981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagccatctccttcctagGgtgcatggtgcaattctact	9	12	8	12	0	2	0	0	0	2	0	4	0	3	0	3	2	4	2	3	2	4	4	rs267602980		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:55594981G>T	ENST00000378397.1	+	1	287	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTTCCTAGGGTGCATGGTG	0.473										HNSCC(27;0.073)																												uc001nhy.1																			0		p.L95I(1)|p.L95V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(286-288)gGg>gTg		Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.							193	183	186					11																	55594981		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594981G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.287G>T	11.37:g.55594981G>T	ENSP00000367650:p.Gly96Val	HNSCC(27;0.073)					p.G96V	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			0	287	+		all_epithelial(135;0.208)	96					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.287G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.369550	0.24771	.	.	ENSG00000205030	ENST00000378397	T	0.09817	2.94	5.21	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.617496	0.14582	N	0.310798	T	0.22704	0.0548	M	0.89214	3.015	0.09310	N	0.999994	P	0.45396	0.857	P	0.44811	0.461	T	0.12553	-1.0543	10	0.87932	D	0	-0.9521	9.4814	0.38902	0.0812:0.1747:0.7441:0.0	.	96	Q8NGL0	OR5L2_HUMAN	V	96	ENSP00000367650:G96V	ENSP00000367650:G96V	G	+	2	0	OR5L2	55351557	0.000000	0.05858	0.027000	0.17364	0.277000	0.26821	0.048000	0.14078	0.671000	0.31185	0.626000	0.83405	GGG		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		T	55594981	G	T	55594981	3	4	218	1	0	0	0	0	1	0	0	0	11171	1232	43	5	289	5	OR5L2	11	55594981	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		55594981	79411535	42	15199											
MED17	9440	broad.mit.edu	37	chr11	93543034	93543034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaagtggtgactatgCtatttcaggtactttctgct	7	15	8	11	0	2	1	1	1	1	0	3	1	3	1	2	2	3	3	2	2	4	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:93543034C>A	ENST00000251871.3	+	11	2023	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	579					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTGACTATGCTATTTCAGGT	0.408																																						uc001pem.4																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1735-1737)gCt>gAt		Homo sapiens mediator complex subunit 17 (MED17), mRNA.							172	159	164					11																	93543034		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93543034C>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1736C>A	11.37:g.93543034C>A	ENSP00000251871:p.Ala579Asp						p.A579D	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			10	2011	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	579					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.1736C>A	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170164	0.57584	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.56776	0.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.44542	1.39	0.80722	D	1	B	0.23735	0.09	B	0.21708	0.036	T	0.41270	-0.9518	10	0.49607	T	0.09	-20.3816	20.3668	0.98882	0.0:1.0:0.0:0.0	.	579	Q9NVC6	MED17_HUMAN	D	579;549	ENSP00000251871:A579D	ENSP00000251871:A579D	A	+	2	0	MED17	93182682	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	7.704000	0.84595	2.894000	0.99253	0.655000	0.94253	GCT		0.408	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		A	93543034	C	A	93543034	3	1	218	1	0	0	0	0	1	0	0	0	9435	797	28	5	1778	5	MED17	11	93543034	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	37948053	93543034	41463482	43	15200											
KRT18	3875	broad.mit.edu	37	chr12	53345364	53345364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatcatggcagacatcCgggcccaatatgacgagctg	12	6	11	12	2	1	3	1	1	0	2	2	4	2	3	3	2	1	2	3	2	3	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:53345364C>T	ENST00000388835.3	+	4	967	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000549198.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Missense_Mutation_p.R253W|KRT18_ENST00000388837.2_Missense_Mutation_p.R253W	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	253	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCAGACATCCGGGCCCAATA	0.582																																						uc001sbe.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(757-759)Cgg>Tgg		Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.							46	51	49					12																	53345364		2203	4300	6503	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53345364C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.757C>T	12.37:g.53345364C>T	ENSP00000373487:p.Arg253Trp					KRT18_uc009zmn.2_Missense_Mutation_p.R253W|KRT18_uc001sbg.3_Missense_Mutation_p.R253W|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.R253W	NM_199187	NP_954657	P05783	K1C18_HUMAN			4	826	+			253			Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.757C>T	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	11.16	1.557803	0.27827	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.93488	-3.23;-3.23;-3.23	3.59	2.66	0.31614	Filament (1);	0.000000	0.48767	D	0.000162	D	0.90273	0.6958	L	0.59912	1.85	0.53688	D	0.999972	B;B	0.14012	0.001;0.009	B;B	0.08055	0.0;0.003	D	0.87634	0.2518	10	0.72032	D	0.01	.	10.3095	0.43699	0.1988:0.8012:0.0:0.0	.	253;253	F8VZY9;P05783	.;K1C18_HUMAN	W	253	ENSP00000373489:R253W;ENSP00000447278:R253W;ENSP00000373487:R253W	ENSP00000373487:R253W	R	+	1	2	KRT18	51631631	0.407000	0.25352	1.000000	0.80357	0.720000	0.41350	0.538000	0.23160	1.051000	0.40369	0.491000	0.48974	CGG		0.582	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		T	53345364	C	T	53345364	3	4	218	1	0	0	0	0	1	0	0	0	8455	643	23	2	771	2	KRT18	12	53345364	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		53345364	80506531	44	15201											
C12orf12	196477	broad.mit.edu	37	chr12	91347528	91347528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcttccagctcctcctctCcctcctccacatattcagcc	5	12	2	22	0	3	0	1	0	2	0	9	0	8	0	8	0	2	1	8	0	1	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:91347528C>G	ENST00000358859.2	-	1	1425	c.992G>C	c.(991-993)gGa>gCa	p.G331A	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	331	Glu-rich.																ctcctcctctccctcctccac	0.547																																						uc001tbj.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(991-993)gGa>gCa		Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.							171	142	152					12																	91347528		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347528C>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.992G>C	12.37:g.91347528C>G	ENSP00000351727:p.Gly331Ala						p.G331A	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			0	1426	-			331			Glu-rich.		Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.992G>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	0.974	-0.699155	0.03279	.	.	ENSG00000197651	ENST00000358859	T	0.20738	2.05	5.04	-8.99	0.00751	.	1.145780	0.06887	N	0.803519	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.30679	-0.9970	10	0.48119	T	0.1	-0.3888	1.461	0.02395	0.1825:0.1345:0.3073:0.3758	.	331	Q8TC90	CL012_HUMAN	A	331	ENSP00000351727:G331A	ENSP00000351727:G331A	G	-	2	0	C12orf12	89871659	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.849000	0.01672	-1.919000	0.01071	-0.700000	0.03674	GGA		0.547	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		G	91347528	C	G	91347528	3	3	218	1	0	0	0	0	1	0	0	0	1676	855	30	5	232	5	C12orf12	12	91347528	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	38002164	91347528	42504367	45	15202											
FOXN4	121643	broad.mit.edu	37	chr12	109719317	109719317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccttcccatggcggggtGggggagcgggctggggctga	4	6	21	10	2	0	1	0	1	0	0	1	2	1	2	2	8	2	2	2	8	0	1	rs374757575		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:109719317G>T	ENST00000299162.5	-	9	1293	c.1189C>A	c.(1189-1191)Cac>Aac	p.H397N	FOXN4_ENST00000355216.1_Missense_Mutation_p.H217N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	397					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						ATGGCGGGGTGGGGGAGCGGG	0.647																																						uc001toe.4																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1189-1191)Cac>Aac		Homo sapiens forkhead box N4 (FOXN4), mRNA.							40	37	38					12																	109719317		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719317G>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1189C>A	12.37:g.109719317G>T	ENSP00000299162:p.His397Asn					FOXN4_uc009zvg.3_Missense_Mutation_p.H194N|FOXN4_uc001tof.4_Missense_Mutation_p.H217N	p.H397N	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	1294	-			397					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1189C>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	5.285	0.238057	0.10023	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.94828	-3.53;-3.13	4.49	1.65	0.23941	.	0.796274	0.11827	N	0.525639	D	0.89701	0.6791	L	0.36672	1.1	0.30943	N	0.725577	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.81933	-0.0706	10	0.29301	T	0.29	-6.5509	9.9622	0.41704	0.0:0.1348:0.5853:0.2799	.	397;397	A6H901;Q96NZ1	.;FOXN4_HUMAN	N	217;397	ENSP00000347354:H217N;ENSP00000299162:H397N	ENSP00000299162:H397N	H	-	1	0	FOXN4	108203700	1.000000	0.71417	0.025000	0.17156	0.018000	0.09664	5.118000	0.64673	0.251000	0.21505	-1.085000	0.02201	CAC		0.647	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		T	109719317	G	T	109719317	3	4	218	1	0	0	0	0	1	0	0	0	6022	1348	47	5	372	5	FOXN4	12	109719317	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	18371789	109719317	24132578	46	15203											
HVCN1	84329	broad.mit.edu	37	chr12	111099035	111099035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggggggccctgggtgcGgggccaggggcaggggcaac	6	3	22	10	1	1	0	1	0	0	0	1	0	1	0	2	10	2	2	2	10	2	0	rs138491014		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:111099035G>A	ENST00000356742.5	-	3	993	c.240C>T	c.(238-240)ccC>ccT	p.P80P	HVCN1_ENST00000242607.8_Silent_p.P80P|HVCN1_ENST00000439744.2_Silent_p.P60P|HVCN1_ENST00000548312.1_Silent_p.P80P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	80					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCCTGGGTGCGGGGCCAGGGG	0.642																																						uc001trs.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(238-240)ccC>ccT		Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.		G	,	2,4404	4.2+/-10.8	0,2,2201	43	51	48		240,240	-8	0	12	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HVCN1	NM_001040107.1,NM_032369.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	80/274,80/274	111099035	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099035G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.240C>T	12.37:g.111099035G>A						HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	p.P80P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			3	405	-			80					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.240C>T	CCDS31900.1																																																																																				0.642	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		A	111099035	G	A	111099035	2	1	218	1	0	0	0	0	0	0	0	1	7462	1103	39	2		2	HVCN1	12	111099035	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	1379718	111099035	22752860	47	15204											
KNTC1	9735	broad.mit.edu	37	chr12	123097664	123097664	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttggtttttcagacattAggtatgcatcagttaacttt	9	19	7	6	0	2	1	2	0	0	1	2	1	2	1	0	2	2	4	0	2	3	8			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:123097664A>G	ENST00000333479.7	+	54	5805	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	KNTC1_ENST00000537348.1_Silent_p.L301L|KNTC1_ENST00000450485.2_Silent_p.L801L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1876					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAGACATTAGGTATGCATC	0.373																																						uc001ucv.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5626-5628)ttA>ttG		Homo sapiens kinetochore associated 1 (KNTC1), mRNA.							179	168	171					12																	123097664		1836	4090	5926	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123097664A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5628A>G	12.37:g.123097664A>G						KNTC1_uc010taf.2_Silent_p.L801L	p.L1876L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	53	5791	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1876					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.5628A>G	CCDS45002.1																																																																																				0.373	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			G	123097664	A	G	123097664	2	3	218	1	0	0	0	0	0	0	0	1	8428	417	15	4		4	KNTC1	12	123097664	Silent	SNP	A	TCGA-28-5219-01A-01D-1486-08	11998629	123097664	10754231	48	15205											
C13orf27	93081	broad.mit.edu	37	chr13	103418858	103418858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcctttcactgccatggAatgatttgccttctcaatcc	7	14	6	14	1	2	1	2	1	1	0	5	2	4	2	5	1	2	0	5	1	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr13:103418858A>G	ENST00000376032.4	-	6	766	c.577T>C	c.(577-579)Tcc>Ccc	p.S193P	TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376019.1_Missense_Mutation_p.S152P|TEX30_ENST00000376021.4_Missense_Mutation_p.S152P|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376022.1_3'UTR|TEX30_ENST00000376027.1_3'UTR	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	193										lung(1)|urinary_tract(1)	2						ACTGCCATGGAATGATTTGCC	0.368																																						uc001vpo.3																			0				lung(1)|urinary_tract(1)	2						c.(577-579)Tcc>Ccc		Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.							96	89	92					13																	103418858		2203	4300	6503	SO:0001583	missense	93081							g.chr13:103418858A>G	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.577T>C	13.37:g.103418858A>G	ENSP00000365200:p.Ser193Pro					TEX30_uc001vpn.3_Missense_Mutation_p.S152P	p.S193P	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN			5	755	-			193					Q5JUR8|Q96KZ8	Missense_Mutation	SNP	ENST00000376032.4	37	c.577T>C	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242864	0.58995	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	T;T;T	0.25250	1.81;1.81;1.81	6.17	3.6	0.41247	.	0.143677	0.64402	D	0.000009	T	0.33059	0.0850	L	0.57536	1.79	0.80722	D	1	D	0.56287	0.975	P	0.51974	0.686	T	0.04840	-1.0923	10	0.46703	T	0.11	-9.7072	8.5228	0.33287	0.4424:0.4453:0.0:0.1122	.	193	Q5JUR7	CM027_HUMAN	P	152;152;193	ENSP00000365187:S152P;ENSP00000365189:S152P;ENSP00000365200:S193P	ENSP00000365187:S152P	S	-	1	0	C13orf27	102216859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.501000	0.53325	1.130000	0.42092	0.533000	0.62120	TCC		0.368	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		G	103418858	A	G	103418858	3	3	218	1	0	0	0	0	1	0	0	0	1723	246	9	4	110	4	C13orf27	13	103418858	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08		103418858	11751020	49	15206											
GTF3C1	2975	broad.mit.edu	37	chr16	27499713	27499713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcctactcttgcttcccCccaaatattcaacctgctgt	8	12	6	15	0	2	0	1	0	1	0	3	1	3	1	5	1	5	2	5	1	4	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr16:27499713C>G	ENST00000356183.4	-	23	3550	c.3535G>C	c.(3535-3537)Ggg>Cgg	p.G1179R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1179R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1179					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTGCTTCCCCCCAAATATTC	0.552																																						uc002dov.2																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3535-3537)Ggg>Cgg		Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.							120	123	122					16																	27499713		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27499713C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3535G>C	16.37:g.27499713C>G	ENSP00000348510:p.Gly1179Arg					GTF3C1_uc002dou.3_Missense_Mutation_p.G1179R	p.G1179R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			22	3575	-			1179					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3535G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855091	0.71719	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24538	1.85	4.9	3.92	0.45320	.	0.576538	0.16986	N	0.191486	T	0.46308	0.1386	M	0.69823	2.125	0.32498	N	0.539294	D;D	0.63880	0.969;0.993	P;P	0.61800	0.695;0.894	T	0.59434	-0.7455	10	0.56958	D	0.05	-9.961	13.0191	0.58775	0.1682:0.8318:0.0:0.0	.	1179;1179	Q12789;Q12789-3	TF3C1_HUMAN;.	R	1179;1175	ENSP00000348510:G1179R	ENSP00000348510:G1179R	G	-	1	0	GTF3C1	27407214	1.000000	0.71417	0.932000	0.37286	0.831000	0.47069	3.729000	0.54999	1.000000	0.39049	0.561000	0.74099	GGG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		G	27499713	C	G	27499713	3	3	218	1	0	0	0	0	1	0	0	0	6872	623	22	5	2854	5	GTF3C1	16	27499713	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		27499713	62855040	50	15207											
RPAIN	84268	broad.mit.edu	37	chr17	5329307	5329307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcagtccatcatcagCgagtatgagaagagcttgca	13	7	12	9	1	2	3	2	1	0	3	3	5	3	3	1	0	4	5	1	0	2	2	rs142664022	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:5329307C>A	ENST00000381209.3	+	4	900	c.330C>A	c.(328-330)agC>agA	p.S110R	RPAIN_ENST00000405578.4_Missense_Mutation_p.S110R|RPAIN_ENST00000327154.6_Missense_Mutation_p.S110R|RPAIN_ENST00000381208.5_Missense_Mutation_p.S110R|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	110					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CCATCATCAGCGAGTATGAGA	0.478																																						uc002gbp.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6								Homo sapiens RPA interacting protein (RPAIN), transcript variant 8, non-coding RNA.							71	58	62					17																	5329307		2203	4300	6503	SO:0001583	missense	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5329307C>A	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.330C>A	17.37:g.5329307C>A	ENSP00000370606:p.Ser110Arg					RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc010vta.1_Intron|RPAIN_uc002gbq.2_Missense_Mutation_p.S110R|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Non-coding_Transcript|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank				Q86UA6	RIP_HUMAN					+								B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	ENST00000381209.3	37		CCDS32536.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841264	0.16891	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000539417;ENST00000405578;ENST00000327154	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.41	-9.74	0.00509	.	0.796012	0.12679	N	0.448178	T	0.18635	0.0447	L	0.31294	0.92	0.58432	D	0.999999	B;B;B;B	0.12630	0.0;0.006;0.003;0.003	B;B;B;B	0.12837	0.003;0.008;0.008;0.008	T	0.07539	-1.0767	10	0.20519	T	0.43	-2.052	4.4817	0.11771	0.0749:0.2382:0.3662:0.3208	.	110;110;110;110	F5GYE1;E9PES3;E9PDG9;Q86UA6	.;.;.;RIP_HUMAN	R	110	ENSP00000370606:S110R;ENSP00000370605:S110R;ENSP00000446453:S110R;ENSP00000385814:S110R;ENSP00000315069:S110R	ENSP00000315069:S110R	S	+	3	2	RPAIN	5270031	0.017000	0.18338	0.135000	0.22099	0.622000	0.37654	-0.890000	0.04140	-1.416000	0.02019	-0.251000	0.11542	AGC		0.478	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439373.1	NM_001033002		A	5329307	C	A	5329307	3	1	218	1	0	0	0	0	1	0	0	0	13540	767	27	5	344	5	RPAIN	17	5329307	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		5329307	75865903	51	15208											
TP53	7157	broad.mit.edu	37	chr17	7579699	7579699	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccaacccttgtccttaCcagaacgttgttttcaggaa	10	11	7	13	1	1	1	1	0	0	1	2	2	2	2	4	1	4	2	4	1	4	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:7579699C>T	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							41	42	42					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1G>A	17.37:g.7579699C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	p.L32_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	290	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	32			Interaction with HRMT1L2.|Transcription activation (acidic).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.96_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357778	0.82243	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7579699	C	T	7579699	5	4	218	1	0	0	0	0	0	0	1	0	16378	521	18	3	1209	3	TP53	17	7579699	Splice_Site	SNP	C	TCGA-28-5219-01A-01D-1486-08	2250392	7579699	73615511	52	15209											
MBD3	53615	broad.mit.edu	37	chr19	1578435	1578435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggccttgtccagcggCgcctccccgtcacgggccag	4	5	14	18	5	1	0	1	0	0	0	3	0	3	0	6	3	1	1	6	3	0	1	rs150880184		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:1578435C>T	ENST00000434436.3	-	6	909	c.780G>A	c.(778-780)gcG>gcA	p.A260A	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_Silent_p.A204A|UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_Silent_p.A260A|MBD3_ENST00000592012.1_Silent_p.A228A	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	260					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCGGCGCCTCCCCGT	0.692																																						uc002ltj.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(778-780)gcG>gcA		Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.		C		1,4403	2.1+/-5.4	0,1,2201	46	45	45		780	-8.6	0	19	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	MBD3	NM_003926.5		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		260/292	1578435	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578435C>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.780G>A	19.37:g.1578435C>T						AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.A228A|MBD3_uc002ltl.1_Silent_p.A260A	p.A260A	NM_003926	NP_003917	O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	802	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	260					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.780G>A	CCDS12072.1																																																																																				0.692	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		T	1578435	C	T	1578435	2	4	218	1	0	0	0	0	0	0	0	1	9344	755	27	1		1	MBD3	19	1578435	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08		1578435	57550548	53	15210											
NOTCH3	4854	broad.mit.edu	37	chr19	15280951	15280951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagtctgtggccacctcCcccatcaggctctcaccctt	6	10	6	19	0	3	0	2	0	2	0	6	0	5	0	6	2	0	1	6	2	0	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:15280951C>T	ENST00000263388.2	-	28	5220	c.5145G>A	c.(5143-5145)ggG>ggA	p.G1715G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1715					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCACCTCCCCCATCAGGC	0.627																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5143-5145)ggG>ggA		Homo sapiens notch 3 (NOTCH3), mRNA.							43	31	35					19																	15280951		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15280951C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5145G>A	19.37:g.15280951C>T							p.G1715G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	5221	-			1715					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.5145G>A	CCDS12326.1																																																																																				0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15280951	C	T	15280951	2	4	218	1	0	0	0	0	0	0	0	1	10550	610	22	3		3	NOTCH3	19	15280951	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	13702516	15280951	43848032	54	15211											
FKBP8	23770	broad.mit.edu	37	chr19	18648452	18648452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgttgtctggctggtGctccagcacaaggctgcagg	6	11	14	10	0	1	1	0	1	1	0	2	1	2	1	1	4	3	6	1	4	1	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:18648452G>A	ENST00000596558.2	-	6	1010	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	FKBP8_ENST00000597960.3_Missense_Mutation_p.H302Y|FKBP8_ENST00000608443.1_Missense_Mutation_p.H302Y|FKBP8_ENST00000610101.1_Missense_Mutation_p.H142Y|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.H330Y|FKBP8_ENST00000222308.4_Missense_Mutation_p.H301Y			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	301					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.H302Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TCTGGCTGGTGCTCCAGCACA	0.642																																						uc002njk.1																			1	Substitution - Missense(1)	p.H302Y(1)|p.E301D(1)	breast(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(901-903)Cac>Tac		Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.							62	50	54					19																	18648452		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648452G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.901C>T	19.37:g.18648452G>A	ENSP00000472302:p.His301Tyr					FKBP8_uc010xqi.1_Missense_Mutation_p.H330Y|FKBP8_uc002njj.1_Missense_Mutation_p.H302Y|FKBP8_uc021uqp.1_Missense_Mutation_p.H142Y	p.H301Y	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	1014	-			301					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	6.669	0.492046	0.12702	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.73575	-0.76;-0.76;-0.76	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.109084	0.64402	D	0.000006	T	0.75258	0.3825	L	0.39898	1.24	0.80722	D	1	D;B;B;P	0.65815	0.995;0.004;0.012;0.898	P;B;B;B	0.60236	0.871;0.044;0.009;0.253	T	0.69803	-0.5046	10	0.02654	T	1	-27.6279	16.792	0.85591	0.0:0.0:1.0:0.0	.	330;245;301;302	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	Y	302;142;330	ENSP00000222308:H302Y;ENSP00000441267:H142Y;ENSP00000388891:H330Y	ENSP00000222308:H302Y	H	-	1	0	FKBP8	18509452	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.144000	0.77357	2.439000	0.82584	0.644000	0.83932	CAC		0.642	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		A	18648452	G	A	18648452	3	1	218	1	0	0	0	0	1	0	0	0	5914	1319	46	3	353	3	FKBP8	19	18648452	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	3367501	18648452	40480531	55	15212											
NFKBIB	4793	broad.mit.edu	37	chr19	39398200	39398200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcccaaccccatcctcgcCcgcctcctccgtgcacacgg	5	5	8	23	5	0	0	0	0	0	0	4	0	3	0	8	2	2	1	8	2	1	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:39398200C>T	ENST00000313582.5	+	5	904	c.870C>T	c.(868-870)gcC>gcT	p.A290A	NFKBIB_ENST00000572515.1_Silent_p.A290A|NFKBIB_ENST00000392079.3_Silent_p.A258A	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	290					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATCCTCGCCCGCCTCCTCC	0.706																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(868-870)gcC>gcT		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.							20	22	21					19																	39398200		2192	4278	6470	SO:0001819	synonymous_variant	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398200C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.870C>T	19.37:g.39398200C>T						NFKBIB_uc010egk.2_Silent_p.A204A|NFKBIB_uc002ojx.3_Silent_p.A258A|NFKBIB_uc002ojy.3_Silent_p.A290A	p.A290A	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	973	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		290					A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	c.870C>T	CCDS12524.1																																																																																				0.706	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		T	39398200	C	T	39398200	2	4	218	1	0	0	0	0	0	0	0	1	10378	610	22	3		3	NFKBIB	19	39398200	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	20749748	39398200	19730783	56	15213											
AXL	558	broad.mit.edu	37	chr19	41744401	41744401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcccccctgagaacattAgtgctacgcggaatgggagc	9	7	14	11	2	0	1	0	1	0	1	0	4	0	3	3	3	4	1	3	3	4	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:41744401A>G	ENST00000301178.4	+	8	1211	c.1021A>G	c.(1021-1023)Agt>Ggt	p.S341G	AXL_ENST00000593513.1_Missense_Mutation_p.S73G|AXL_ENST00000359092.3_Missense_Mutation_p.S341G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	341	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAGAACATTAGTGCTACGCG	0.657																																						uc010ehj.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1021-1023)Agt>Ggt		Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.							36	38	37					19																	41744401		2203	4299	6502	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41744401A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1021A>G	19.37:g.41744401A>G	ENSP00000301178:p.Ser341Gly					AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.3_Missense_Mutation_p.S341G	p.S341G	NM_021913	NP_068713	P30530	UFO_HUMAN			7	1211	+			341			Fibronectin type-III 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1021A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	a	12.75	2.032658	0.35893	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.59502	0.26;0.26	4.06	3.04	0.35103	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.139441	0.46145	U	0.000320	T	0.56062	0.1960	M	0.66378	2.025	0.26890	N	0.96735	B;B	0.27971	0.163;0.196	B;B	0.36608	0.147;0.229	T	0.54463	-0.8290	10	0.52906	T	0.07	-1.396	7.3595	0.26737	0.8941:0.0:0.1059:0.0	.	341;341	P30530-2;P30530	.;UFO_HUMAN	G	341	ENSP00000301178:S341G;ENSP00000351995:S341G	ENSP00000301178:S341G	S	+	1	0	AXL	46436241	0.999000	0.42202	0.998000	0.56505	0.744000	0.42396	5.445000	0.66594	0.715000	0.32103	0.247000	0.18012	AGT		0.657	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			G	41744401	A	G	41744401	3	3	218	1	0	0	0	0	1	0	0	0	1238	420	15	4	1051	4	AXL	19	41744401	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	2346201	41744401	17384582	57	15214											
C20orf85	128602	broad.mit.edu	37	chr20	56728664	56728664	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagaactgggggtttttaAcaaccccttttgaggaggta	10	11	11	9	0	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	4	6			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr20:56728664A>T	ENST00000371168.3	+	2	194	c.133A>T	c.(133-135)Aca>Tca	p.T45S		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	45										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGGGTTTTTAACAACCCCTTT	0.433																																						uc002xyv.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(133-135)Aca>Tca		Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.							64	68	67					20																	56728664		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56728664A>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.133A>T	20.37:g.56728664A>T	ENSP00000360210:p.Thr45Ser						p.T45S	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		1	171	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		45						Missense_Mutation	SNP	ENST00000371168.3	37	c.133A>T	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595841	0.28445	.	.	ENSG00000124237	ENST00000371168	T	0.22134	1.97	5.82	0.5	0.16919	.	0.315972	0.30109	N	0.010383	T	0.13543	0.0328	L	0.43701	1.375	0.09310	N	0.999997	B	0.10296	0.003	B	0.12156	0.007	T	0.20371	-1.0277	10	0.30854	T	0.27	-0.9156	3.5295	0.07771	0.4391:0.0:0.1733:0.3877	.	45	Q9H1P6	CT085_HUMAN	S	45	ENSP00000360210:T45S	ENSP00000360210:T45S	T	+	1	0	C20orf85	56162070	0.492000	0.26027	0.429000	0.26710	0.996000	0.88848	0.367000	0.20382	-0.186000	0.10533	0.533000	0.62120	ACA		0.433	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		T	56728664	A	T	56728664	3	4	218	1	0	0	0	0	1	0	0	0	2120	43	2	5	139	5	C20orf85	20	56728664	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08		56728664	6296856	58	15215											
TMPRSS15	5651	broad.mit.edu	37	chr21	19713765	19713765	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttggcaccaaagttGgttctggataaagactccca	12	9	12	8	0	1	1	0	0	1	1	2	4	2	3	2	4	0	4	2	4	3	4	rs202066879	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:19713765G>C	ENST00000284885.3	-	13	1562	c.1529C>G	c.(1528-1530)cCa>cGa	p.P510R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	510						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAAAGTTGGTTCTGGATA	0.398																																						uc002ykw.3																			0		p.E509*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1528-1530)cCa>cGa		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							159	152	154					21																	19713765		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19713765G>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1529C>G	21.37:g.19713765G>C	ENSP00000284885:p.Pro510Arg						p.P510R	NM_002772	NP_002763	P98073	ENTK_HUMAN			12	1560	-			510					Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1529C>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925664	0.73213	.	.	ENSG00000154646	ENST00000284885	D	0.87809	-2.3	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.75264	2.295	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.92871	0.6314	9	.	.	.	.	17.8836	0.88848	0.0:0.0:1.0:0.0	.	510	P98073	ENTK_HUMAN	R	510	ENSP00000284885:P510R	.	P	-	2	0	TMPRSS15	18635636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.013000	0.76373	2.472000	0.83506	0.484000	0.47621	CCA		0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		C	19713765	G	C	19713765	3	2	218	1	0	0	0	0	1	0	0	0	16243	1348	47	5	1582	5	TMPRSS15	21	19713765	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		19713765	28416130	59	15216											
RIPK4	54101	broad.mit.edu	37	chr21	43161460	43161460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccagcaggctgcagacGttgacgtcggagcacaggtc	8	7	15	11	3	0	2	0	1	0	1	2	3	0	3	1	3	4	5	1	3	0	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:43161460G>A	ENST00000352483.2	-	9	2101	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N	RIPK4_ENST00000332512.3_Silent_p.N631N|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Silent_p.N568N|RIPK4_ENST00000544709.1_Silent_p.N568N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	679					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697																																						uc002yzn.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1891-1893)aaC>aaT		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							52	55	54					21																	43161460		2201	4298	6499	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161460G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2037C>T	21.37:g.43161460G>A							p.N631N	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1941	-			631					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1893C>T		.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041658	0.02013	.	.	ENSG00000183421	ENST00000330470	.	.	.	4.75	-1.13	0.09775	.	.	.	.	.	T	0.67571	0.2907	.	.	.	0.48341	D	0.999633	.	.	.	.	.	.	T	0.66791	-0.5834	5	0.62326	D	0.03	-25.4646	11.0454	0.47855	0.2809:0.0:0.7191:0.0	.	.	.	.	C	368	.	ENSP00000330975:R368C	R	-	1	0	RIPK4	42034529	0.262000	0.24073	0.004000	0.12327	0.071000	0.16799	0.600000	0.24104	-0.550000	0.06183	-1.170000	0.01741	CGT		0.697	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43161460	G	A	43161460	2	1	218	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161460	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	23447695	43161460	4968435	60	15217											
PRAME	23532	broad.mit.edu	37	chr22	22892481	22892481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttcttacagcacaggCgtagtacatttttctttcgc	8	15	7	11	2	3	0	1	0	2	0	4	0	3	0	0	1	4	4	0	1	3	7	rs116965324	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:22892481C>T	ENST00000398741.1	-	5	926	c.620G>A	c.(619-621)cGc>cAc	p.R207H	PRAME_ENST00000424204.2_Missense_Mutation_p.R191H|PRAME_ENST00000405655.3_Missense_Mutation_p.R207H|PRAME_ENST00000543184.1_Missense_Mutation_p.R207H|PRAME_ENST00000539862.1_Missense_Mutation_p.R191H|PRAME_ENST00000398743.2_Missense_Mutation_p.R207H|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000402697.1_Missense_Mutation_p.R207H	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	207					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.R207H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGCACAGGCGTAGTACATT	0.443													C|||	2	0.000399361	0	0	5008	,	,		20030	0		0.002	False		,,,				2504	0				Melanoma(73;1707 1838 15168 27201)	uc002zwf.3																			1	Substitution - Missense(1)	p.R207H(2)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(619-621)cGc>cAc		Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.							143	140	141					22																	22892481		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892481C>T	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.620G>A	22.37:g.22892481C>T	ENSP00000381726:p.Arg207His					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.R191H|PRAME_uc010gtr.3_Missense_Mutation_p.R207H|PRAME_uc002zwg.3_Missense_Mutation_p.R207H|PRAME_uc002zwh.3_Missense_Mutation_p.R207H|PRAME_uc002zwi.3_Missense_Mutation_p.R207H|PRAME_uc002zwj.3_Missense_Mutation_p.R207H|PRAME_uc002zwk.3_Missense_Mutation_p.R207H	p.R207H	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	3	776	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	207					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.620G>A	CCDS13801.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	0.004	-2.275362	0.00257	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	3.56	0.203	0.15195	.	0.828357	0.10766	N	0.636584	T	0.01835	0.0058	N	0.00059	-2.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	10	0.02654	T	1	.	6.1532	0.20322	0.0:0.3452:0.0:0.6548	.	207	P78395	PRAME_HUMAN	H	207;207;207;207;191;207;191	ENSP00000381728:R207H;ENSP00000445675:R207H;ENSP00000381726:R207H;ENSP00000384343:R207H;ENSP00000445097:R191H;ENSP00000385198:R207H;ENSP00000407342:R191H	ENSP00000381726:R207H	R	-	2	0	PRAME	21222481	0.000000	0.05858	0.016000	0.15963	0.034000	0.12701	-1.596000	0.02091	-0.045000	0.13468	-0.285000	0.09966	CGC		0.443	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		T	22892481	C	T	22892481	3	4	218	1	0	0	0	0	1	0	0	0	12424	768	27	1	917	1	PRAME	22	22892481	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		22892481	28412085	61	15218											
DEPDC5	9681	broad.mit.edu	37	chr22	32239092	32239092	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttaggccttgtgtccCgaaaccgccctgaggaggag	7	10	13	11	2	1	1	0	1	1	0	2	4	2	3	4	3	1	1	4	3	2	3	rs541024038		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:32239092C>T	ENST00000382112.3	+	27	2570	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.R843*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.R765*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.R834*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.R765*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.R843*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.R834*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.R843*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	843					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTGTGTCCCGAAACCGCCC	0.433																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2527-2529)Cga>Tga		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							87	80	82					22																	32239092		1949	4144	6093	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32239092C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2500C>T	22.37:g.32239092C>T	ENSP00000371546:p.Arg834*					DEPDC5_uc011als.2_Nonsense_Mutation_p.R765*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R834*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R834*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R283*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	p.R843*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			27	2729	+			834					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.2527C>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.990663|7.990663	0.98599|0.98599	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.154834	.|0.43919	.|D	.|0.000519	T|.	0.34366|.	0.0895|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20338|.	-1.0278|.	4|.	.|0.02654	.|T	.|1	.|.	12.411|12.411	0.55468|0.55468	0.2645:0.7355:0.0:0.0|0.2645:0.7355:0.0:0.0	.|.	.|.	.|.	.|.	L|X	240|765;843;834;765;843;765;834;843;834	.|.	.|ENSP00000266091:R843X	P|R	+|+	2|1	0|2	DEPDC5|DEPDC5	30569092|30569092	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.428000|2.428000	0.44749|0.44749	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.433	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		T	32239092	C	T	32239092	4	4	218	1	0	0	0	0	0	1	0	0	4442	644	23	2	2624	2	DEPDC5	22	32239092	Nonsense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	9346611	32239092	19065474	62	15219											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524398	73524398	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcggcagactaggacaTctggctcgtgactgtgatcg	8	9	13	11	3	1	3	0	2	1	1	3	4	1	4	1	3	1	2	1	3	1	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:73524398T>A	ENST00000339534.2	+	1	374	c.297T>A	c.(295-297)caT>caA	p.H99Q		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	99							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GACTAGGACATCTGGCTCGTG	0.512																																						uc004ebs.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(295-297)caT>caA		Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.							112	90	97					X																	73524398		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524398T>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"Zinc fingers, CCHC domain containing"	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.297T>A	X.37:g.73524398T>A	ENSP00000345633:p.His99Gln						p.H99Q	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			0	374	+			99						Missense_Mutation	SNP	ENST00000339534.2	37	c.297T>A	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066548	0.36470	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	0.308	0.15815	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.64402	U	0.000001	D	0.85843	0.5791	H	0.98466	4.24	0.50632	D	0.99988	D	0.89917	1.0	D	0.97110	1.0	D	0.83844	0.0259	9	0.87932	D	0	.	7.8251	0.29311	0.0:0.5373:0.0:0.4627	.	99	Q8WW36	ZCH13_HUMAN	Q	99	.	ENSP00000345633:H99Q	H	+	3	2	ZCCHC13	73441123	0.901000	0.30685	0.982000	0.44146	0.018000	0.09664	0.100000	0.15231	-0.056000	0.13221	-0.509000	0.04479	CAT		0.512	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		A	73524398	T	A	73524398	3	1	218	1	0	0	0	0	1	0	0	0	17579	1432	50	5	299	5	ZCCHC13	23	73524398	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08		73524398	81746162	63	15220											
MAGEA12	4111	broad.mit.edu	37	chrX	151900252	151900252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggccatcgtaggagagGcccaggcaggtgacaaggat	12	4	16	9	1	0	2	0	1	0	1	1	4	0	3	2	6	1	3	2	6	2	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:151900252G>A	ENST00000357916.4	-	2	704	c.549C>T	c.(547-549)ggC>ggT	p.G183G	MAGEA12_ENST00000393900.3_Silent_p.G183G|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.G183G	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	183	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGGAGAGGCCCAGGCAGG	0.577																																						uc022chj.1																			0		p.L182Q(1)|p.G183V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(547-549)ggC>ggT		Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.							144	137	139					X																	151900252		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900252G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.549C>T	X.37:g.151900252G>A						MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.G183G|MAGEA12_uc022chi.1_Silent_p.G183G|MAGEA12_uc004fgc.3_Silent_p.G183G|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	p.G183G	NM_005367	NP_005358	P43365	MAGAC_HUMAN			0	549	-	Acute lymphoblastic leukemia(192;6.56e-05)		183			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.549C>T	CCDS14710.1																																																																																				0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		A	151900252	G	A	151900252	2	1	218	1	0	0	0	0	0	0	0	1	9166	1190	42	3		3	MAGEA12	23	151900252	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	78375854	151900252	3370308	64	15221											
VPS13D	55187	broad.mit.edu	37	chr1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccatagaggaatttatgCggccttatgatttacaagat	14	12	8	7	1	0	3	0	1	0	2	0	4	0	4	2	2	3	0	2	2	7	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438																																						uc001atv.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)Cgg>Tgg		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							145	147	146					1																	12371650		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371650C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6790C>T	1.37:g.12371650C>T	ENSP00000350854:p.Arg2264Trp					VPS13D_uc001atw.3_Missense_Mutation_p.R2264W|VPS13D_uc001atx.3_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	p.R2264W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6931	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2264						Missense_Mutation	SNP	ENST00000358136.3	37	c.6790C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771616	0.69992	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.68593	2.085	0.80722	D	1	D;P;P	0.89917	1.0;0.794;0.691	D;B;B	0.87578	0.998;0.277;0.143	T	0.67841	-0.5566	10	0.66056	D	0.02	.	13.738	0.62829	0.4045:0.5955:0.0:0.0	.	171;2264;2264	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	W	2264	ENSP00000348666:R2264W;ENSP00000350854:R2264W	ENSP00000348666:R2264W	R	+	1	2	VPS13D	12294237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	0.711000	0.32018	0.563000	0.77884	CGG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12371650	C	T	12371650	3	4	219	1	0	0	0	0	1	0	0	0	17189	759	27	1	6896	1	VPS13D	1	12371650	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		12371650	236878971	1	15222											
SLC2A1	6513	broad.mit.edu	37	chr1	43396818	43396818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgtggtgagcgtggtGggcaggatgctctccccata	7	8	16	10	2	1	2	0	1	1	1	2	3	1	3	2	4	3	2	2	4	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:43396818G>A	ENST00000426263.3	-	3	352	c.174C>T	c.(172-174)ccC>ccT	p.P58P	SLC2A1_ENST00000415851.2_Silent_p.P58P|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Silent_p.P58P	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	58					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGAGCGTGGTGGGCAGGATGC	0.602											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cik.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(172-174)ccC>ccT		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	Etomidate(DB00292)						135	107	117					1																	43396818		2203	4300	6503	SO:0001819	synonymous_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396818G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.174C>T	1.37:g.43396818G>A			OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916		p.P58P	NM_006516	NP_006507	P11166	GTR1_HUMAN			2	699	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	58					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	c.174C>T	CCDS477.1																																																																																				0.602	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		A	43396818	G	A	43396818	2	1	219	1	0	0	0	0	0	0	0	1	14538	1335	47	3		3	SLC2A1	1	43396818	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	31025168	43396818	205853803	2	15223											
TGFBR3	7049	broad.mit.edu	37	chr1	92178062	92178062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agataaagcacgtttggatgGcaaatcccagttcttgttca	12	12	9	8	1	2	1	1	0	1	1	3	2	3	2	1	2	1	5	1	2	3	5			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:92178062G>A	ENST00000525962.1	-	12	1965	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A634V|TGFBR3_ENST00000212355.4_Missense_Mutation_p.A635V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	635	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		A -> T (in dbSNP:rs17882578). {ECO:0000269|Ref.3}.		blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTTTGGATGGCAAATCCCAG	0.368																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1903-1905)gCc>gTc		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							108	103	104					1																	92178062		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92178062G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1904C>T	1.37:g.92178062G>A	ENSP00000436127:p.Ala635Val					TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.A593V|TGFBR3_uc001doi.3_Missense_Mutation_p.A634V|TGFBR3_uc001doj.3_Missense_Mutation_p.A634V	p.A635V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2419	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	635		A -> T.	ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1904C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404329	0.62288	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.16	6.16	0.99307	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.188028	0.50627	D	0.000106	D	0.88507	0.6455	M	0.72118	2.19	0.46798	D	0.999203	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.813	D	0.85856	0.1407	9	.	.	.	-18.4314	20.8598	0.99761	0.0:0.0:1.0:0.0	.	634;635	Q03167-2;Q03167	.;TGBR3_HUMAN	V	635;634;635;634	ENSP00000212355:A635V;ENSP00000359426:A634V;ENSP00000436127:A635V;ENSP00000432638:A634V	.	A	-	2	0	TGFBR3	91950650	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.040000	0.64191	2.937000	0.99478	0.650000	0.86243	GCC		0.368	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		A	92178062	G	A	92178062	3	1	219	1	0	0	0	0	1	0	0	0	15820	1203	42	3	671	3	TGFBR3	1	92178062	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	48781244	92178062	157072559	3	15224											
NT5C1B	93034	broad.mit.edu	37	chr2	18764143	18764143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttacttaccgtagtgatTgacgctgtttataagccgca	10	15	8	8	3	0	2	0	2	0	0	0	2	0	2	2	0	3	4	2	0	5	8			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:18764143T>C	ENST00000359846.2	-	7	1269	c.1192A>G	c.(1192-1194)Aat>Gat	p.N398D	NT5C1B_ENST00000304081.4_Missense_Mutation_p.N338D|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.N398D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.N398D	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	398					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CCGTAGTGATTGACGCTGTTT	0.413																																						uc010exr.3																			0											c.(1018-1020)Aat>Gat		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							132	127	129					2																	18764143		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18764143T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1192A>G	2.37:g.18764143T>C	ENSP00000352904:p.Asn398Asp					NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.N398D|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.N338D|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.N398D|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.N381D|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.N415D|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.N400D|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.N338D	p.N340D	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			5	1130	-			398					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1018A>G	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.629096|4.629096	0.87560|0.87560	.|.	.|.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013|ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846|ENST00000418427	D|.	0.90261|.	-2.64|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.090584|.	0.85682|.	D|.	0.000000|.	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P;P;D;P;P;D|.	0.89917|.	0.771;0.771;0.771;0.771;1.0;0.729;0.771;0.994|.	P;B;P;B;D;P;B;P|.	0.87578|.	0.627;0.348;0.627;0.444;0.998;0.493;0.348;0.899|.	T|T	0.70745|0.70745	-0.4788|-0.4788	10|5	0.48119|.	T|.	0.1|.	-41.8558|-41.8558	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	381;415;338;381;340;338;398;398|.	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4|.	.;.;.;.;.;.;5NT1B_HUMAN;.|.	D|R	398;340;338;398|52	ENSP00000412639:N340D|.	ENSP00000305979:N338D|.	N|Q	-|-	1|2	0|0	NT5C1B-RDH14;NT5C1B|NT5C1B	18627624|18627624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.413	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			C	18764143	T	C	18764143	3	2	219	1	0	0	0	0	1	0	0	0	10686	1812	63	4	656	4	NT5C1B	2	18764143	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08		18764143	224435230	4	15225											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105897164	105897164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagatcagctcccggaCatcaagctggccgcttctgc	9	7	12	13	2	3	2	2	0	1	2	4	5	4	3	2	2	3	3	2	2	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:105897164C>T	ENST00000393359.2	-	6	1564	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V380I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	380					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCTCCCGGACATCAAGCTGG	0.532																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1138-1140)Gtc>Atc		Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.							81	79	80					2																	105897164		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105897164C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1138G>A	2.37:g.105897164C>T	ENSP00000377027:p.Val380Ile					TGFBRAP1_uc010fjc.3_Missense_Mutation_p.V150I|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V380I	p.V380I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			5	1222	-			380					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1138G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966113	0.34659	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.41758	0.99;0.99	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	N	0.12746	0.255	0.53688	D	0.999978	B	0.21606	0.058	B	0.15484	0.013	T	0.10132	-1.0643	10	0.15952	T	0.53	-39.4567	12.3103	0.54925	0.0:0.9225:0.0:0.0775	.	380	Q8WUH2	TGFA1_HUMAN	I	380	ENSP00000377027:V380I;ENSP00000258449:V380I	ENSP00000258449:V380I	V	-	1	0	TGFBRAP1	105263596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.091000	0.71406	2.463000	0.83235	0.650000	0.86243	GTC		0.532	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		T	105897164	C	T	105897164	3	4	219	1	0	0	0	0	1	0	0	0	15821	478	17	3	1472	3	TGFBRAP1	2	105897164	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	87133021	105897164	137302209	5	15226											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367398	125367398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctacgagcaatcctgcGaggtgtacaggcaccagggg	10	6	13	12	2	1	0	0	0	1	0	2	2	2	0	3	4	4	3	3	4	3	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:125367398G>A	ENST00000431078.1	+	12	2138	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	592	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATCCTGCGAGGTGTACAG	0.517																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1777-1779)Gag>Aag		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							63	61	62					2																	125367398		1860	4107	5967	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367398G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1774G>A	2.37:g.125367398G>A	ENSP00000399013:p.Glu592Lys					CNTNAP5_uc002tno.3_Missense_Mutation_p.E592K	p.E593K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	11	2141	+			592			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1777G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687046	0.96784	.	.	ENSG00000155052	ENST00000431078	T	0.18174	2.23	5.55	5.55	0.83447	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000119	T	0.50257	0.1605	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54563	-0.8275	10	0.52906	T	0.07	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	592	Q8WYK1	CNTP5_HUMAN	K	592	ENSP00000399013:E592K	ENSP00000399013:E592K	E	+	1	0	CNTNAP5	125083868	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.884000	0.92432	2.768000	0.95171	0.655000	0.94253	GAG		0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125367398	G	A	125367398	3	1	219	1	0	0	0	0	1	0	0	0	3650	1059	37	2	1820	2	CNTNAP5	2	125367398	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	19470234	125367398	117831975	6	15227											
GALNT5	11227	broad.mit.edu	37	chr2	158114680	158114681	+	Frame_Shift_Ins	INS	-	-	C																															gtcatctggctcctctttgaINScatggcagctctccgcctct																										TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:158114680_158114681insC	ENST00000259056.4	+	1	571_572	c.86_87insC	c.(85-90)gacatgfs	p.M30fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	30					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTCTTTGACATGGCAGCTC	0.495																																						uc002tzg.3																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(85-87)gacfs		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.																																				SO:0001589	frameshift_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158114680_158114681insC	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.87dupC	2.37:g.158114681_158114681dupC	ENSP00000259056:p.Met30fs					GALNT5_uc010zci.2_Non-coding_Transcript	p.D29fs	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			0	341_342	+			29					A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Ins	INS	ENST00000259056.4	37	c.86_87insC	CCDS2203.1																																																																																				0.495	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		C	158114681	-	C	158114680	7	5	219	1	0	1	1	0	0	0	0	0	6216	275	10	0	88	0	GALNT5	2	158114680	Frame_Shift_Ins	INS	-	TCGA-28-5220-01A-01D-1486-08	32747282	158114680	85084693	7	15228											
PDE11A	50940	broad.mit.edu	37	chr2	178936459	178936459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaaaagagagcagcggtCagcatccaccataaggcaga	16	3	12	10	1	1	2	1	0	0	2	2	4	2	3	2	3	3	3	2	3	3	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:178936459C>G	ENST00000286063.6	-	1	1023	c.706G>C	c.(706-708)Gac>Cac	p.D236H	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	236	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GAGCAGCGGTCAGCATCCACC	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(706-708)Gac>Cac		Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.							79	70	73					2																	178936459		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936459C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.706G>C	2.37:g.178936459C>G	ENSP00000286063:p.Asp236His					PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	p.D236H	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		0	1024	-			236			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.706G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199228	0.79015	.	.	ENSG00000128655	ENST00000286063	T	0.73469	-0.75	5.52	4.59	0.56863	GAF (2);	0.165435	0.64402	D	0.000004	T	0.80969	0.4726	M	0.90483	3.12	0.80722	D	1	P	0.34864	0.473	B	0.38712	0.28	D	0.84695	0.0725	10	0.72032	D	0.01	.	14.9095	0.70746	0.0:0.8564:0.1436:0.0	.	236	Q9HCR9	PDE11_HUMAN	H	236	ENSP00000286063:D236H	ENSP00000286063:D236H	D	-	1	0	PDE11A	178644705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.590000	0.87494	0.655000	0.94253	GAC		0.493	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			G	178936459	C	G	178936459	3	3	219	1	0	0	0	0	1	0	0	0	11631	826	29	5	2175	5	PDE11A	2	178936459	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	20821779	178936459	64262914	8	15229											
SPHKAP	80309	broad.mit.edu	37	chr2	228882884	228882884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacaggttgacttgaacttCgttgatgcgagatgtggcac	9	11	14	7	2	0	4	0	3	0	1	1	6	0	5	0	3	2	3	0	3	1	4			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:228882884C>T	ENST00000392056.3	-	7	2732	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E896K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	896						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGAACTTCGTTGATGCGA	0.502																																						uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2686-2688)Gaa>Aaa		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							364	339	348					2																	228882884		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882884C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2686G>A	2.37:g.228882884C>T	ENSP00000375909:p.Glu896Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	p.E896K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	2733	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	896					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2686G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956397	0.53293	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.16324	2.35;2.35	6.17	6.17	0.99709	.	0.482278	0.26180	N	0.025880	T	0.40171	0.1106	M	0.76574	2.34	0.30640	N	0.756531	D;D	0.67145	0.993;0.996	P;P	0.56343	0.557;0.796	T	0.28490	-1.0042	10	0.62326	D	0.03	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	896;896	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	896	ENSP00000375909:E896K;ENSP00000339886:E896K	ENSP00000339886:E896K	E	-	1	0	SPHKAP	228591128	0.111000	0.22076	0.020000	0.16555	0.020000	0.10135	3.309000	0.51903	2.941000	0.99782	0.655000	0.94253	GAA		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228882884	C	T	228882884	3	4	219	1	0	0	0	0	1	0	0	0	15047	893	31	2	2440	2	SPHKAP	2	228882884	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	49946425	228882884	14316489	9	15230											
CADPS	8618	broad.mit.edu	37	chr3	62636671	62636671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcatgctctccaagttggCcatgagcaggttgacagatg	9	9	13	10	1	1	3	0	2	1	1	2	3	1	3	2	3	2	5	2	3	1	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr3:62636671C>T	ENST00000383710.4	-	5	1403	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CADPS_ENST00000283269.9_Missense_Mutation_p.A352T|CADPS_ENST00000357948.3_Missense_Mutation_p.A352T|CADPS_ENST00000490353.2_Missense_Mutation_p.A352T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	352					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCAAGTTGGCCATGAGCAGG	0.478																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1054-1056)Gcc>Acc		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							146	135	139					3																	62636671		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62636671C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1054G>A	3.37:g.62636671C>T	ENSP00000373215:p.Ala352Thr					CADPS_uc003dlm.2_Missense_Mutation_p.A352T|CADPS_uc003dln.2_Missense_Mutation_p.A352T|CADPS_uc021wzv.1_Missense_Mutation_p.A352T	p.A352T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	4	1414	-		Lung SC(41;0.0452)	352					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1054G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298949	0.95574	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.47177	0.86;0.85;0.85;0.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.73598	2.24	0.80722	D	1	P;D;D	0.71674	0.635;0.998;0.997	P;D;D	0.78314	0.495;0.991;0.989	T	0.70306	-0.4908	10	0.56958	D	0.05	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	352;352;352	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	352	ENSP00000373215:A352T;ENSP00000350632:A352T;ENSP00000283269:A352T;ENSP00000418736:A352T	ENSP00000283269:A352T	A	-	1	0	CADPS	62611711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GCC		0.478	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		T	62636671	C	T	62636671	3	4	219	1	0	0	0	0	1	0	0	0	2570	739	26	3	3184	3	CADPS	3	62636671	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		62636671	135385759	10	15231											
HEATR7B2	133558	broad.mit.edu	37	chr5	41070948	41070948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggattcctctgtactaaGtgtcatgtcttggctgtttc	6	18	9	8	0	3	0	1	0	2	0	5	1	4	1	1	2	1	3	1	2	3	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:41070948G>T	ENST00000399564.4	-	1	457	c.7C>A	c.(7-9)Ctt>Att	p.L3I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	3																	TCTGTACTAAGTGTCATGTCT	0.398																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(7-9)Ctt>Att		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							94	88	90					5																	41070948		1899	4109	6008	SO:0001583	missense	133558						binding	g.chr5:41070948G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.7C>A	5.37:g.41070948G>T	ENSP00000382476:p.Leu3Ile					HEATR7B2_uc021xxt.1_Missense_Mutation_p.L3I	p.L3I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			0	497	-			3					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.7C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	6.158	0.397439	0.11638	.	.	ENSG00000171495	ENST00000399564	T	0.01197	5.19	5.4	1.51	0.23008	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.20384	0.029	T	0.48725	-0.9010	9	0.32370	T	0.25	.	2.3044	0.04170	0.1694:0.1747:0.5081:0.1478	.	3	Q7Z745	HTRB2_HUMAN	I	3	ENSP00000382476:L3I	ENSP00000382476:L3I	L	-	1	0	HEATR7B2	41106705	0.027000	0.19231	0.016000	0.15963	0.024000	0.10985	1.016000	0.29976	0.392000	0.25172	0.655000	0.94253	CTT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41070948	G	T	41070948	3	4	219	1	0	0	0	0	1	0	0	0	7035	1029	36	5	4918	5	HEATR7B2	5	41070948	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		41070948	139844312	11	15232											
ENC1	8507	broad.mit.edu	37	chr5	73931652	73931652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagcgcttcttcaggtcaTagctgatccagttaattgca	11	13	8	9	1	3	1	2	1	1	0	4	1	4	1	1	1	3	4	1	1	4	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:73931652T>C	ENST00000302351.4	-	2	1789	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	ENC1_ENST00000537006.1_Missense_Mutation_p.Y220C|ENC1_ENST00000510316.1_Missense_Mutation_p.Y147C	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	220					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTTCAGGTCATAGCTGATCCA	0.512																																						uc003kdc.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(658-660)tAt>tGt		Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.							89	86	87					5																	73931652		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931652T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.659A>G	5.37:g.73931652T>C	ENSP00000306356:p.Tyr220Cys					ENC1_uc011css.2_Missense_Mutation_p.Y147C|ENC1_uc021yao.1_Missense_Mutation_p.Y220C	p.Y220C	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	1	1790	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	220					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.659A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473183	0.63737	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.69435	-0.4;-0.4;-0.4	5.8	5.8	0.92144	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.77712	2.385	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	D	0.83868	0.0272	10	0.87932	D	0	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	220	O14682	ENC1_HUMAN	C	220;147;220	ENSP00000306356:Y220C;ENSP00000423804:Y147C;ENSP00000446289:Y220C	ENSP00000306356:Y220C	Y	-	2	0	ENC1	73967408	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.187000	0.72039	2.226000	0.72624	0.459000	0.35465	TAT		0.512	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		C	73931652	T	C	73931652	3	2	219	1	0	0	0	0	1	0	0	0	5113	1406	49	4	1114	4	ENC1	5	73931652	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	32860704	73931652	106983608	12	15233											
PDGFRB	5159	broad.mit.edu	37	chr5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcatgatcttcagctccGacataagggcttgcttctca	9	12	8	12	1	4	1	3	1	2	0	6	3	5	1	1	1	2	3	1	1	1	4			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1948-1950)tCg>tTg		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						92	72	79					5																	149503887		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503887G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1949C>T	5.37:g.149503887G>A	ENSP00000261799:p.Ser650Leu					PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	p.S650L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2418	-		all_hematologic(541;0.224)	650			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1949C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590431	0.96590	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83591	-1.74	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000363	D	0.89273	0.6668	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90297	0.4327	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	650;650	A8KAM8;P09619	.;PGFRB_HUMAN	L	650;320	ENSP00000261799:S650L	ENSP00000261799:S650L	S	-	2	0	PDGFRB	149484080	1.000000	0.71417	0.968000	0.41197	0.953000	0.61014	7.876000	0.87215	2.397000	0.81536	0.462000	0.41574	TCG		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		A	149503887	G	A	149503887	3	1	219	1	0	0	0	0	1	0	0	0	11662	1059	37	2	1411	2	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	75572235	149503887	31411373	13	15234											
SDK1	221935	broad.mit.edu	37	chr7	4011129	4011129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgtccaccctcctgaggaCcacgtggtgattaaggggac	9	8	12	12	2	0	2	0	2	0	0	3	4	2	4	4	4	0	0	4	4	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:4011129C>A	ENST00000404826.2	+	12	1885	c.1746C>A	c.(1744-1746)gaC>gaA	p.D582E	SDK1_ENST00000389531.3_Missense_Mutation_p.D582E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	582	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCTGAGGACCACGTGGTGA	0.542																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1744-1746)gaC>gaA		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							93	79	83					7																	4011129		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4011129C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1746C>A	7.37:g.4011129C>A	ENSP00000385899:p.Asp582Glu						p.D582E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1885	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	582			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1746C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338340	0.41398	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.78707	-1.2;-1.2	5.39	1.3	0.21679	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070470	0.53938	D	0.000042	D	0.82921	0.5142	M	0.83384	2.64	0.36700	D	0.880051	D	0.63046	0.992	P	0.55222	0.771	D	0.84490	0.0610	10	0.87932	D	0	.	8.7783	0.34776	0.0:0.5823:0.0:0.4177	.	582	Q7Z5N4	SDK1_HUMAN	E	582	ENSP00000385899:D582E;ENSP00000374182:D582E	ENSP00000374182:D582E	D	+	3	2	SDK1	3977655	0.019000	0.18553	0.475000	0.27278	0.075000	0.17131	0.194000	0.17135	0.176000	0.19873	-0.140000	0.14226	GAC		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4011129	C	A	4011129	3	1	219	1	0	0	0	0	1	0	0	0	13968	506	18	5	1792	5	SDK1	7	4011129	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		4011129	155127534	14	15235											
AQP1	358	broad.mit.edu	37	chr7	30961834	30961834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctgtagcccttggaCacctcctggctgtgagtcag	5	11	11	14	0	2	1	1	1	1	0	4	2	3	2	4	2	1	2	4	2	1	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:30961834C>T	ENST00000311813.4	+	2	593	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	AQP1_ENST00000409899.1_Missense_Mutation_p.H65Y|AQP1_ENST00000509504.1_Missense_Mutation_p.H357Y|AQP1_ENST00000409611.1_Missense_Mutation_p.H129Y|AQP1_ENST00000434909.2_Missense_Mutation_p.H240Y|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000441328.2_Missense_Mutation_p.H97Y	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	180		Substrate discrimination.			ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	AGCCCTTGGACACCTCCTGGC	0.692																																						uc003tbv.2																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(538-540)Cac>Tac		Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.							37	32	33					7																	30961834		2203	4300	6503	SO:0001583	missense	358							g.chr7:30961834C>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.538C>T	7.37:g.30961834C>T	ENSP00000311165:p.His180Tyr					FAM188B_uc011kac.1_Missense_Mutation_p.H240Y|FAM188B_uc010kwf.1_Missense_Mutation_p.H97Y|FAM188B_uc010kwh.1_Missense_Mutation_p.H129Y|FAM188B_uc022abh.1_Missense_Mutation_p.H65Y	p.H180Y	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN			1	648	+			0					B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.538C>T	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293314	0.80914	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.01	5.01	0.66863	Aquaporin-like (2);	0.097855	0.64402	D	0.000001	D	0.97402	0.9150	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.997	D	0.98419	1.0576	10	0.87932	D	0	-1.2871	15.8335	0.78778	0.0:1.0:0.0:0.0	.	240;129;65;180	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	Y	240;85;180;165;97;65;129;357	ENSP00000395059:H240Y;ENSP00000311165:H180Y;ENSP00000405698:H97Y;ENSP00000386712:H65Y;ENSP00000387178:H129Y;ENSP00000421315:H357Y	ENSP00000265298:H85Y	H	+	1	0	RP5-877J2.1;AQP1	30928359	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.762000	0.85270	2.323000	0.78572	0.561000	0.74099	CAC		0.692	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		T	30961834	C	T	30961834	3	4	219	1	0	0	0	0	1	0	0	0	821	478	17	3	801	3	AQP1	7	30961834	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	26950705	30961834	128176829	15	15236											
PKD1L1	168507	broad.mit.edu	37	chr7	47840381	47840381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgaaacagcagcccggGgaaggcgtctgtgaaggtgc	13	5	15	8	2	1	2	0	2	1	0	1	3	1	3	1	4	4	1	1	4	5	0	rs141837186		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:47840381G>A	ENST00000289672.2	-	54	8109	c.8059C>T	c.(8059-8061)Ccc>Tcc	p.P2687S	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2687					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGCCCGGGGAAGGCGTCT	0.577																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(8059-8061)Ccc>Tcc		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.		G	,SER/PRO	0,4406		0,0,2203	84	88	86		,8059	3.9	0	7	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,74	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,possibly-damaging	,2687/2850	47840381	2,13004	2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47840381G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8059C>T	7.37:g.47840381G>A	ENSP00000289672:p.Pro2687Ser					C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	p.P2687S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			53	8093	-			2687					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8059C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	8.083	0.772783	0.16051	0.0	2.33E-4	ENSG00000158683	ENST00000289672	T	0.17691	2.26	4.79	3.89	0.44902	.	1.589310	0.04506	U	0.382152	T	0.10637	0.0260	N	0.14661	0.345	0.20196	N	0.999927	P	0.35575	0.51	B	0.29077	0.098	T	0.27806	-1.0063	10	0.15499	T	0.54	-0.6144	10.1398	0.42728	0.0:0.0:0.7996:0.2004	.	2687	Q8TDX9	PK1L1_HUMAN	S	2687	ENSP00000289672:P2687S	ENSP00000289672:P2687S	P	-	1	0	PKD1L1	47806906	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.410000	0.21098	0.958000	0.37956	0.563000	0.77884	CCC		0.577	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47840381	G	A	47840381	3	1	219	1	0	0	0	0	1	0	0	0	11964	1232	43	3	506	3	PKD1L1	7	47840381	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	16878547	47840381	111298282	16	15237											
AKAP9	10142	broad.mit.edu	37	chr7	91624020	91624020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacaagcaagaagagaaaAggatgagacaatgagagaat	23	3	11	4	0	0	5	0	2	0	4	0	9	0	6	0	1	2	1	0	1	8	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:91624020A>G	ENST00000359028.2	+	7	923	c.698A>G	c.(697-699)aAg>aGg	p.K233R	AKAP9_ENST00000356239.3_Missense_Mutation_p.K221R|AKAP9_ENST00000394564.1_Missense_Mutation_p.K221R|AKAP9_ENST00000358100.2_Missense_Mutation_p.K233R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	233	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAGAAAAGGATGAGACA	0.318			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(661-663)aAg>aGg		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							62	65	64					7																	91624020		2203	4296	6499	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91624020A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.698A>G	7.37:g.91624020A>G	ENSP00000351922:p.Lys233Arg					AKAP9_uc003uld.4_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.3_Missense_Mutation_p.K221R	p.K221R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	887	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		233			Gln-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.662A>G		.	.	.	.	.	.	.	.	.	.	A	16.41	3.116864	0.56505	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.94	2.55	0.30701	.	0.204916	0.24504	N	0.037945	T	0.63165	0.2488	L	0.27053	0.805	0.42671	D	0.993512	D;D;B;B	0.76494	0.999;0.998;0.36;0.197	D;D;B;B	0.81914	0.995;0.991;0.275;0.119	T	0.56998	-0.7886	10	0.30854	T	0.27	.	9.233	0.37448	0.8533:0.0:0.1467:0.0	.	221;221;233;221	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	R	221;233;233;233;233;221;172	ENSP00000348573:K221R;ENSP00000351922:K233R;ENSP00000350813:K233R;ENSP00000378065:K221R;ENSP00000391704:K172R	ENSP00000348573:K221R	K	+	2	0	AKAP9	91461956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.706000	0.68362	0.324000	0.23333	0.533000	0.62120	AAG		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		G	91624020	A	G	91624020	3	3	219	1	0	0	0	0	1	0	0	0	459	72	3	4	684	4	AKAP9	7	91624020	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	43783639	91624020	67514643	17	15238											
RELN	5649	broad.mit.edu	37	chr7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggtgccaggtcGccccgaagtcccttgaaaat	11	6	12	12	2	0	2	0	1	0	1	2	3	1	2	4	2	2	2	4	2	4	1	rs374232523		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000424685.2_Missense_Mutation_p.A2049V|RELN_ENST00000343529.5_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		15683	0		0	False		,,,				2504	0				NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			1	Substitution - Missense(1)	p.A2049V(2)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6145-6147)gCg>gTg		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70	56	61		6146,6146	5.7	1	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191670G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val					RELN_uc022ajq.1_Missense_Mutation_p.A2049V|RELN_uc010liz.3_Missense_Mutation_p.A2049V	p.A2049V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	40	6306	-			2049					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6146C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103191670	G	A	103191670	3	1	219	1	0	0	0	0	1	0	0	0	13220	1087	38	1	4336	1	RELN	7	103191670	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	11567650	103191670	55946993	18	15239											
RNF32	140545	broad.mit.edu	37	chr7	156451221	156451221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgaggaaaacagtacCtcccacagatgccaagttaa	17	6	7	11	0	0	2	0	1	0	1	1	3	1	3	4	1	4	2	4	1	6	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:156451221C>G	ENST00000405335.1	+	8	1050	c.641C>G	c.(640-642)cCt>cGt	p.P214R	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392741.2_Missense_Mutation_p.P214R|RNF32_ENST00000392743.2_Missense_Mutation_p.P214R|RNF32_ENST00000432459.2_Missense_Mutation_p.P214R|RNF32_ENST00000317955.5_Missense_Mutation_p.P214R|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000311822.8_Missense_Mutation_p.P214R|RNF32_ENST00000343665.4_Missense_Mutation_p.P190R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	214	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAACAGTACCTCCCACAGAT	0.383																																						uc003wmo.3																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(640-642)cCt>cGt		Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.							94	99	98					7																	156451221		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156451221C>G		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.641C>G	7.37:g.156451221C>G	ENSP00000385285:p.Pro214Arg					RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.P214R|RNF32_uc003wmq.3_Missense_Mutation_p.P214R|RNF32_uc003wmr.3_Missense_Mutation_p.P214R|RNF32_uc003wms.3_Missense_Mutation_p.P214R|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.P214R	p.P214R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	871	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	214			IQ.		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.641C>G	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231232	0.58777	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.50277	0.76;2.18;2.18;2.18;1.78;2.18;0.75;1.89	4.78	4.78	0.61160	.	0.166868	0.53938	D	0.000056	T	0.73799	0.3633	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.994	T	0.79957	-0.1584	10	0.87932	D	0	-19.472	18.2076	0.89859	0.0:1.0:0.0:0.0	.	214;214;214	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	R	214;214;214;214;214;214;214;190	ENSP00000385815:P214R;ENSP00000405588:P214R;ENSP00000315950:P214R;ENSP00000385285:P214R;ENSP00000308894:P214R;ENSP00000376499:P214R;ENSP00000376497:P214R;ENSP00000341185:P190R	ENSP00000308894:P214R	P	+	2	0	RNF32	156143982	0.962000	0.33011	0.079000	0.20413	0.761000	0.43186	4.740000	0.62087	2.369000	0.80426	0.650000	0.86243	CCT		0.383	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		G	156451221	C	G	156451221	3	3	219	1	0	0	0	0	1	0	0	0	13488	681	24	5	663	5	RNF32	7	156451221	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	53259551	156451221	2687442	19	15240											
LYN	4067	broad.mit.edu	37	chr8	56863056	56863056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaagtcccttttaacaaAaaaagaaggcttcatcccca	17	8	5	11	0	1	1	1	0	0	1	3	1	3	1	3	1	2	2	3	1	6	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:56863056A>G	ENST00000519728.1	+	5	619	c.323A>G	c.(322-324)aAa>aGa	p.K108R	LYN_ENST00000520220.2_Missense_Mutation_p.K87R	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	108	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTTTTAACAAAAAAAGAAGGC	0.388																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(322-324)aAa>aGa		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							203	203	203					8																	56863056		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863056A>G	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.323A>G	8.37:g.56863056A>G	ENSP00000428924:p.Lys108Arg					LYN_uc003xsl.4_Missense_Mutation_p.K87R	p.K108R	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		4	605	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	108			SH3.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.323A>G	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159879	0.38119	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.21932	1.98;1.98;1.98	5.6	4.43	0.53597	Src homology-3 domain (3);	0.144579	0.64402	N	0.000006	T	0.11623	0.0283	N	0.11560	0.145	0.36549	D	0.871734	B;B	0.09022	0.002;0.001	B;B	0.17979	0.02;0.006	T	0.12293	-1.0553	10	0.34782	T	0.22	.	10.2274	0.43233	0.8614:0.0:0.1386:0.0	.	178;108	Q6NUK7;P07948	.;LYN_HUMAN	R	108;87;108	ENSP00000428924:K108R;ENSP00000428424:K87R;ENSP00000428313:K108R	ENSP00000428924:K108R	K	+	2	0	LYN	57025610	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	2.156000	0.42310	0.953000	0.37825	-0.290000	0.09829	AAA		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		G	56863056	A	G	56863056	3	3	219	1	0	0	0	0	1	0	0	0	9107	14	1	4	337	4	LYN	8	56863056	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08		56863056	89500966	20	15241											
TRAM1	23471	broad.mit.edu	37	chr8	71510232	71510256	+	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA	-																															tttgttttggagaagtgcatTcgcctgttaattttctaaaa																								rs200161704		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	ENST00000262213.2	-	4	479_493	c.310_324delTTATTTTTAGAAAATTAACAGGCGA	c.(310-324)ttatttttagaaaatdel	p.LFLEN104fs	TRAM1_ENST00000521425.1_Splice_Site_p.LFLEN18fs|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Splice_Site_p.LFLEN73fs	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	104					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R108*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGAAGTGCATTCGCCTGTTAATTTTCTAAAAATAAAAACAGCCAT	0.307																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.2																			1	Substitution - Nonsense(1)	p.R108*(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.e4-1		Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.																																				SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.310-1TTATTTTTAGAAAATTAACAGGCGA>-	8.37:g.71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA						TRAM1_uc011lfc.2_Splice_Site_p.K73_splice	p.K104_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		4	570	-			104					B4E0K2	Splice_Site	DEL	ENST00000262213.2	37	c.310_splice	CCDS6207.1																																																																																				0.307	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Frame_Shift_Del	-	71510256	TCGCCTGTTAATTTTCTAAAAATAA	-	71510232	8	5	219	1	0	1	0	1	0	0	1	0	16448	1770	62	0	832	0	TRAM1	8	71510232	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGA-28-5220-01A-01D-1486-08	14647176	71510232	74853790	21	15242											
COL14A1	7373	broad.mit.edu	37	chr8	121219270	121219270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggttaactggactcatgcCccaggaaatgtggaaaaata	15	9	10	7	0	1	0	1	0	0	0	1	3	1	3	2	4	2	1	2	4	5	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:121219270C>T	ENST00000297848.3	+	10	1398	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	COL14A1_ENST00000537875.1_Silent_p.A376A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.A281A|COL14A1_ENST00000309791.4_Silent_p.A376A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACTCATGCCCCAGGAAATG	0.428																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1126-1128)gcC>gcT		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							67	63	65					8																	121219270		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121219270C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1128C>T	8.37:g.121219270C>T						COL14A1_uc003yoy.3_Silent_p.A54A|COL14A1_uc010mde.1_Silent_p.A54A	p.A376A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1393	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		376			Fibronectin type-III 2.			Silent	SNP	ENST00000297848.3	37	c.1128C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077169	0.20227	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.82	3.04	0.35103	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35325	-0.9793	4	.	.	.	.	4.3998	0.11381	0.3658:0.4104:0.0:0.2237	.	.	.	.	S	133	.	.	P	+	1	0	COL14A1	121288451	0.380000	0.25131	1.000000	0.80357	0.881000	0.50899	-0.382000	0.07408	0.808000	0.34231	0.591000	0.81541	CCC		0.428	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121219270	C	T	121219270	2	4	219	1	0	0	0	0	0	0	0	1	3671	610	22	3		3	COL14A1	8	121219270	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08	49709038	121219270	25144752	22	15243											
FOXB2	442425	broad.mit.edu	37	chr9	79635212	79635212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcagccgtctcacccCggcaagatgcaggaggcggc	8	4	13	16	3	2	1	2	0	1	1	3	2	2	2	4	4	3	3	4	4	1	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:79635212C>T	ENST00000376708.1	+	1	642	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	214					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CGTCTCACCCCGGCAAGATGC	0.751																																						uc004ako.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(640-642)ccC>ccT		Homo sapiens forkhead box B2 (FOXB2), mRNA.							6	8	7					9																	79635212		1884	3772	5656	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635212C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.642C>T	9.37:g.79635212C>T							p.P214P	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			0	642	+			214						Silent	SNP	ENST00000376708.1	37	c.642C>T	CCDS35045.1																																																																																				0.751	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		T	79635212	C	T	79635212	2	4	219	1	0	0	0	0	0	0	0	1	5993	639	23	2		2	FOXB2	9	79635212	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08		79635212	61578219	23	15244											
OR13C4	138804	broad.mit.edu	37	chr9	107289309	107289309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaggttgcccaggaagAagtacatgggcatgtgaaga	15	6	15	5	0	0	4	0	1	0	3	0	6	0	5	1	3	2	3	1	3	5	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:107289309A>G	ENST00000277216.3	-	1	181	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCCCAGGAAGAAGTACATGGG	0.418																																						uc011lvn.2																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(181-183)tTc>tCc		Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.							153	126	135					9																	107289309		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289309A>G		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.182T>C	9.37:g.107289309A>G	ENSP00000277216:p.Phe61Ser						p.F61S	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			0	182	-			61					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.182T>C	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077217	0.55753	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00966	5.49	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	U	0.000151	T	0.07188	0.0182	M	0.92459	3.31	0.29268	N	0.870875	D	0.76494	0.999	D	0.69824	0.966	T	0.01496	-1.1340	10	0.87932	D	0	.	11.98	0.53115	1.0:0.0:0.0:0.0	.	61	Q8NGS5	O13C4_HUMAN	S	61;90	ENSP00000277216:F61S	ENSP00000277216:F61S	F	-	2	0	OR13C4	106329130	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.071000	0.76770	1.982000	0.57802	0.482000	0.46254	TTC		0.418	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			G	107289309	A	G	107289309	3	3	219	1	0	0	0	0	1	0	0	0	10936	246	9	4	776	4	OR13C4	9	107289309	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	27654097	107289309	33924122	24	15245											
PTCHD3	374308	broad.mit.edu	37	chr10	27702773	27702773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagatccaggggtgcGcgcccacctgccaccccagc	8	3	13	17	2	0	1	0	0	0	1	1	2	1	2	6	3	3	1	6	3	1	0	rs200246680		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr10:27702773G>A	ENST00000438700.3	-	1	524	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	136					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGGGGTGCGCGCCCACCTG	0.667																																						uc001itu.2																			0		p.G135G(1)|p.A136A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(406-408)gCg>gTg		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							27	32	30					10																	27702773		2203	4299	6502	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702773G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.407C>T	10.37:g.27702773G>A	ENSP00000417658:p.Ala136Val						p.A136V	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			0	525	-			136					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.407C>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666238	0.47677	.	.	ENSG00000182077	ENST00000438700	D	0.88046	-2.33	4.01	0.822	0.18806	.	2.959320	0.01282	N	0.009773	T	0.81908	0.4922	L	0.46157	1.445	0.09310	N	1	P	0.35272	0.493	B	0.24155	0.051	T	0.69978	-0.4998	10	0.44086	T	0.13	-0.2012	8.586	0.33657	0.0:0.1423:0.5666:0.291	.	136	Q3KNS1	PTHD3_HUMAN	V	136	ENSP00000417658:A136V	ENSP00000417658:A136V	A	-	2	0	PTCHD3	27742779	0.014000	0.17966	0.713000	0.30519	0.890000	0.51754	1.114000	0.31196	0.844000	0.35094	0.555000	0.69702	GCG		0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		A	27702773	G	A	27702773	3	1	219	1	0	0	0	0	1	0	0	0	12734	1087	38	1	1912	1	PTCHD3	10	27702773	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		27702773	107831974	25	15246											
OR51M1	390059	broad.mit.edu	37	chr11	5410816	5410816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattctgatcattattaagaCcaaccctcgtctgcacacac	12	11	4	14	1	3	2	1	1	2	1	4	2	3	2	2	0	2	1	2	0	3	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:5410816C>A	ENST00000328611.3	+	1	210	c.188C>A	c.(187-189)aCc>aAc	p.T63N	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	63					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTATTAAGACCAACCCTCGT	0.478																																						uc010qzc.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(187-189)aCc>aAc		Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.							170	157	161					11																	5410816		2022	4179	6201	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410816C>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.188C>A	11.37:g.5410816C>A	ENSP00000333196:p.Thr63Asn					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.T63N	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	210	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	63					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.188C>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	4.165	0.029131	0.08054	.	.	ENSG00000184698	ENST00000328611	T	0.09255	3.0	5.01	-2.59	0.06209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35067	U	0.003467	T	0.10208	0.0250	M	0.78916	2.43	0.09310	N	1	B	0.18741	0.03	B	0.18561	0.022	T	0.23797	-1.0178	10	0.54805	T	0.06	.	1.7884	0.03046	0.2452:0.3649:0.2393:0.1506	.	52	Q9H341	O51M1_HUMAN	N	63	ENSP00000333196:T63N	ENSP00000333196:T63N	T	+	2	0	OR51M1	5367392	0.000000	0.05858	0.179000	0.23059	0.013000	0.08279	-1.993000	0.01475	-0.282000	0.09128	-0.188000	0.12872	ACC		0.478	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		A	5410816	C	A	5410816	3	1	219	1	0	0	0	0	1	0	0	0	11103	507	18	5	190	5	OR51M1	11	5410816	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		5410816	129595700	26	15247											
CTNND1	1500	broad.mit.edu	37	chr11	57559037	57559037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgagaagctgacccgggcGctggaggaggaacggcgcca	9	5	17	10	4	0	2	0	2	0	1	0	6	0	5	2	5	2	2	2	5	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:57559037G>A	ENST00000399050.4	+	3	623	c.87G>A	c.(85-87)gcG>gcA	p.A29A	CTNND1_ENST00000361796.4_Silent_p.A29A|CTNND1_ENST00000529526.1_De_novo_Start_InFrame|CTNND1_ENST00000361332.4_Silent_p.A29A|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000399039.4_Silent_p.A29A|CTNND1_ENST00000534579.1_De_novo_Start_InFrame|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000524630.1_Silent_p.A29A|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532844.1_De_novo_Start_InFrame|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532649.1_De_novo_Start_InFrame|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528621.1_De_novo_Start_InFrame|CTNND1_ENST00000360682.6_Silent_p.A29A|TMX2-CTNND1_ENST00000528395.1_3'UTR|CTNND1_ENST00000526357.1_De_novo_Start_InFrame|CTNND1_ENST00000428599.2_Silent_p.A29A|CTNND1_ENST00000358694.6_Silent_p.A29A|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529873.1_De_novo_Start_InFrame|CTNND1_ENST00000529919.1_Silent_p.A29A|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Silent_p.A29A|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000526938.1_Silent_p.A29A|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000530748.1_De_novo_Start_InFrame	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	29					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCCGGGCGCTGGAGGAGG	0.637																																						uc001nmc.4																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(85-87)gcG>gcA		Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.							24	27	26					11																	57559037		2021	4173	6194	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57559037G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.87G>A	11.37:g.57559037G>A						CTNND1_uc001nlf.2_Silent_p.A29A|CTNND1_uc021qjk.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlj.4_5'UTR|CTNND1_uc001nlq.4_Intron|CTNND1_uc001nlr.4_5'UTR|CTNND1_uc001nln.4_Silent_p.A29A|CTNND1_uc001nli.4_Silent_p.A29A|CTNND1_uc001nlo.4_Intron|CTNND1_uc001nlp.4_5'UTR|CTNND1_uc001nlu.4_Intron|CTNND1_uc001nlt.4_Intron|CTNND1_uc001nlv.4_Intron|CTNND1_uc001nls.4_Intron|CTNND1_uc001nlw.4_Intron|CTNND1_uc001nmf.4_Silent_p.A29A|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_5'UTR|CTNND1_uc001nlk.4_5'UTR|CTNND1_uc001nme.4_Silent_p.A29A|CTNND1_uc001nll.4_5'UTR|CTNND1_uc001nlm.4_Silent_p.A29A|CTNND1_uc001nmi.4_Intron|CTNND1_uc001nmg.4_5'UTR|CTNND1_uc001nmh.4_Silent_p.A29A	p.A29A	NM_001085458	NP_001078932	O60716	CTND1_HUMAN			2	658	+		all_epithelial(135;0.155)	29					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.87G>A	CCDS44604.1																																																																																				0.637	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		A	57559037	G	A	57559037	2	1	219	1	0	0	0	0	0	0	0	1	4019	1074	38	1		1	CTNND1	11	57559037	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	52148221	57559037	77447479	27	15248											
ACER3	55331	broad.mit.edu	37	chr11	76701596	76701596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcaggtttaccttaaggTaaaagagccgatattccatc	12	13	8	8	1	0	1	0	0	0	1	2	2	1	1	3	2	3	3	3	2	5	7			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:76701596T>C	ENST00000532485.1	+	6	520	c.416T>C	c.(415-417)gTa>gCa	p.V139A	ACER3_ENST00000530182.1_3'UTR|ACER3_ENST00000533873.1_Missense_Mutation_p.V102A|ACER3_ENST00000526597.1_Missense_Mutation_p.V44A|ACER3_ENST00000538157.1_Missense_Mutation_p.V97A	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	139					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TACCTTAAGGTAAAAGAGCCG	0.338																																						uc009yum.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						c.(415-417)gTa>gCa		Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.							209	200	203					11																	76701596		2200	4292	6492	SO:0001583	missense	55331				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	g.chr11:76701596T>C	AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"Alkaline ceramidase"	16066	protein-coding gene	gene with protein product	"alkaline phytoceramidase"		"phytoceramidase, alkaline"	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.416T>C	11.37:g.76701596T>C	ENSP00000434480:p.Val139Ala					ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	p.V139A	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN			5	520	+			139					B2RC99	Missense_Mutation	SNP	ENST00000532485.1	37	c.416T>C	CCDS8247.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310139	0.40895	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.54	5.54	0.83059	.	0.197354	0.45126	D	0.000399	T	0.32645	0.0836	L	0.39020	1.185	0.80722	D	1	B;B	0.33777	0.425;0.425	B;B	0.34418	0.121;0.182	T	0.09707	-1.0662	10	0.20519	T	0.43	-12.8758	11.9914	0.53178	0.0:0.0:0.0:1.0	.	102;139	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	A	97;139;44;102;97;97	ENSP00000435733:V97A;ENSP00000434480:V139A;ENSP00000431149:V44A;ENSP00000436252:V102A;ENSP00000440916:V97A	ENSP00000431149:V44A	V	+	2	0	ACER3	76379244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.323000	0.78572	0.528000	0.53228	GTA		0.338	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382770.2	NM_018367		C	76701596	T	C	76701596	3	2	219	1	0	0	0	0	1	0	0	0	140	1638	57	4	438	4	ACER3	11	76701596	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	19142559	76701596	58304920	28	15249											
NNMT	4837	broad.mit.edu	37	chr11	114182998	114182998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggtgatcatggatgcGctcaagagcagctactacat	10	11	10	10	1	2	2	2	1	0	1	3	3	3	3	1	2	5	3	1	2	3	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:114182998G>A	ENST00000535401.1	+	5	858	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NNMT_ENST00000542647.1_Silent_p.A3A|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Silent_p.A3A|NNMT_ENST00000299964.3_Silent_p.A198A|NNMT_ENST00000541754.1_Silent_p.A3A			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	198					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCATGGATGCGCTCAAGAGCA	0.612																																						uc001por.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(592-594)gcG>gcA		Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	Niacin(DB00627)						65	67	67					11																	114182998		2201	4296	6497	SO:0001819	synonymous_variant	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114182998G>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.594G>A	11.37:g.114182998G>A						NNMT_uc001pos.1_Silent_p.A198A	p.A198A	NM_006169	NP_006160	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	4	858	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	198						Silent	SNP	ENST00000535401.1	37	c.594G>A	CCDS8368.1																																																																																				0.612	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		A	114182998	G	A	114182998	2	1	219	1	0	0	0	0	0	0	0	1	10509	1074	38	1		1	NNMT	11	114182998	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	37481402	114182998	20823518	29	15250											
OR6X1	390260	broad.mit.edu	37	chr11	123624636	123624636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggatggttgctatgacGcccaggagttccaaaatgct	12	9	11	9	1	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	4	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:123624636G>A	ENST00000327930.2	-	1	617	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCTATGACGCCCAGGAGTT	0.448																																						uc010rzy.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(589-591)ggC>ggT		Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.							90	92	91					11																	123624636		2202	4299	6501	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624636G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.591C>T	11.37:g.123624636G>A							p.G197G	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	0	591	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	197					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.591C>T	CCDS31695.1																																																																																				0.448	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		A	123624636	G	A	123624636	2	1	219	1	0	0	0	0	0	0	0	1	11212	1074	38	1		1	OR6X1	11	123624636	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	9441638	123624636	11381880	30	15251											
NDUFA12	55967	broad.mit.edu	37	chr12	95365322	95365322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttgaatttatggttcGtccaaatgaatttacgagca	12	14	8	7	3	1	2	1	2	0	0	3	3	2	2	1	1	2	3	1	1	5	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:95365322G>A	ENST00000327772.2	-	4	421	c.332C>T	c.(331-333)aCg>aTg	p.T111M	NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547986.1_3'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	111					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						TTTATGGTTCGTCCAAATGAA	0.423																																						uc001tdl.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(331-333)aCg>aTg		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						154	140	145					12																	95365322		2203	4300	6503	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95365322G>A	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"Mitochondrial respiratory chain complex / Complex I"	23987	protein-coding gene	gene with protein product	"complex I B17.2 subunit"	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.332C>T	12.37:g.95365322G>A	ENSP00000330737:p.Thr111Met						p.T111M	NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN			3	387	-			111					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.332C>T	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821215	0.50633	.	.	ENSG00000184752	ENST00000327772	T	0.43688	0.94	5.46	3.41	0.39046	.	0.493659	0.25073	N	0.033344	T	0.26268	0.0641	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.17098	0.017	T	0.06197	-1.0840	10	0.41790	T	0.15	-20.6474	11.7771	0.51991	0.0:0.0:0.3976:0.6024	.	111	Q9UI09	NDUAC_HUMAN	M	111	ENSP00000330737:T111M	ENSP00000330737:T111M	T	-	2	0	NDUFA12	93889453	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	3.251000	0.51453	1.252000	0.44001	0.561000	0.74099	ACG		0.423	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		A	95365322	G	A	95365322	3	1	219	1	0	0	0	0	1	0	0	0	10262	1145	40	1	109	1	NDUFA12	12	95365322	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		95365322	38486573	31	15252											
RBM19	9904	broad.mit.edu	37	chr12	114282577	114282577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgggtgctgtgacacAgggcgttgaaggctctctgc	8	9	15	9	1	1	2	0	2	1	0	2	2	1	2	0	3	2	3	0	3	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:114282577A>G	ENST00000545145.2	-	23	2759	c.2681T>C	c.(2680-2682)cTg>cCg	p.L894P	RBM19_ENST00000261741.5_Missense_Mutation_p.L894P|RBM19_ENST00000392561.3_Missense_Mutation_p.L894P	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	894	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGTGACACAGGGCGTTGAA	0.637																																						uc009zwi.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2680-2682)cTg>cCg		Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.							43	40	41					12																	114282577		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114282577A>G	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2681T>C	12.37:g.114282577A>G	ENSP00000442053:p.Leu894Pro					RBM19_uc001tvn.4_Missense_Mutation_p.L894P|RBM19_uc001tvm.3_Missense_Mutation_p.L894P	p.L894P	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN			22	2825	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		894			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2681T>C	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249104	0.80024	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.26810	1.71;1.71;1.71	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.57814	0.2079	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67158	-0.5741	10	0.87932	D	0	-14.4809	14.8471	0.70267	1.0:0.0:0.0:0.0	.	894	Q9Y4C8	RBM19_HUMAN	P	894	ENSP00000442053:L894P;ENSP00000376344:L894P;ENSP00000261741:L894P	ENSP00000261741:L894P	L	-	2	0	RBM19	112766960	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.615000	0.90920	1.983000	0.57843	0.459000	0.35465	CTG		0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		G	114282577	A	G	114282577	3	3	219	1	0	0	0	0	1	0	0	0	13121	188	7	4	209	4	RBM19	12	114282577	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	18917255	114282577	19569318	32	15253											
RABGGTA	5875	broad.mit.edu	37	chr14	24739285	24739285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagacttggggttcacccGcaggcagctctccaggaagc	10	7	12	12	1	2	1	1	0	1	1	3	2	2	2	2	4	2	4	2	4	2	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr14:24739285G>A	ENST00000399409.3	-	4	784	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	RABGGTA_ENST00000216840.6_Missense_Mutation_p.R101W|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	101					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGGTTCACCCGCAGGCAGCTC	0.632																																						uc001wof.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(301-303)Cgg>Tgg		Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.							33	38	36					14																	24739285		1969	4157	6126	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24739285G>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.301C>T	14.37:g.24739285G>A	ENSP00000382341:p.Arg101Trp					RABGGTA_uc001wog.3_Missense_Mutation_p.R101W|HP08474_uc021rro.1_5'Flank	p.R101W	NM_004581	NP_878256	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	723	-			101					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.301C>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132317	0.56828	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.46819	0.86;0.86	5.17	2.19	0.27852	Protein prenyltransferase (1);	0.059972	0.64402	D	0.000005	T	0.65133	0.2662	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.67887	-0.5554	10	0.72032	D	0.01	-20.7424	13.2219	0.59892	0.0:0.0:0.5782:0.4218	.	101	Q92696	PGTA_HUMAN	W	101;101;64	ENSP00000216840:R101W;ENSP00000382341:R101W	ENSP00000216840:R101W	R	-	1	2	RABGGTA	23809125	0.369000	0.25039	0.943000	0.38184	0.840000	0.47671	0.752000	0.26362	0.149000	0.19098	0.462000	0.41574	CGG		0.632	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		A	24739285	G	A	24739285	3	1	219	1	0	0	0	0	1	0	0	0	12967	1086	38	1	1454	1	RABGGTA	14	24739285	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		24739285	82610255	33	15254											
CORO7	79585	broad.mit.edu	37	chr16	4414382	4414382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtgaagctcgggtggggCcggcaggcggggttgaggct	6	6	22	7	3	0	2	0	2	0	0	1	3	0	2	1	8	1	4	1	8	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr16:4414382C>T	ENST00000251166.4	-	14	1315	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	CORO7_ENST00000539968.1_Silent_p.R170R|CORO7-PAM16_ENST00000572467.1_Silent_p.R390R|CORO7_ENST00000574025.1_Silent_p.R305R|CORO7_ENST00000537233.2_Silent_p.R372R|CORO7_ENST00000423908.2_Silent_p.R222R	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	390					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TCGGGTGGGGCCGGCAGGCGG	0.701																																						uc002cwf.3																			0											c.(1168-1170)cgG>cgA		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							13	17	16					16																	4414382		2185	4290	6475	SO:0001819	synonymous_variant	79585							g.chr16:4414382C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1170G>A	16.37:g.4414382C>T						CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.R170R|CORO7-PAM16_uc002cwh.4_Silent_p.R390R|CORO7-PAM16_uc010uxh.2_Silent_p.R372R|CORO7-PAM16_uc010uxi.2_Silent_p.R305R|CORO7-PAM16_uc002cwi.1_Silent_p.R170R|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.R170R	p.R390R	NM_001201479	NP_001188408					13	1613	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1170G>A	CCDS10513.1																																																																																				0.701	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4414382	C	T	4414382	2	4	219	1	0	0	0	0	0	0	0	1	3759	726	26	3		3	CORO7	16	4414382	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08		4414382	85940371	34	15255											
AMAC1	146861	broad.mit.edu	37	chr17	33520922	33520922	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagacggtggaagaaccTttgcgaacagtggcagcgtt	11	7	15	8	3	0	2	0	0	0	2	0	5	0	3	1	3	5	3	1	3	3	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:33520922T>A	ENST00000297307.5	-	1	490	c.405A>T	c.(403-405)aaA>aaT	p.K135N	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	135	EamA 1.					integral component of membrane (GO:0016021)											TGGAAGAACCTTTGCGAACAG	0.607																																						uc002hjd.2																			0											c.(403-405)aaA>aaT		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							149	142	144					17																	33520922		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520922T>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.405A>T	17.37:g.33520922T>A	ENSP00000297307:p.Lys135Asn						p.K135N	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN			0	491	-			135			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.405A>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520257	0.27211	.	.	ENSG00000164729	ENST00000297307	T	0.48836	0.8	.	.	.	.	0.000000	0.50627	D	0.000115	T	0.43743	0.1261	L	0.27053	0.805	0.29956	N	0.819777	D	0.89917	1.0	D	0.87578	0.998	T	0.43147	-0.9409	9	0.13853	T	0.58	-1.8923	4.4978	0.11848	0.0:7.0E-4:0.0:0.9993	.	135	Q8N808	S35G3_HUMAN	N	135	ENSP00000297307:K135N	ENSP00000297307:K135N	K	-	3	2	SLC35G3	30545035	0.965000	0.33210	0.296000	0.24974	0.297000	0.27493	0.192000	0.17096	0.056000	0.16144	0.055000	0.15244	AAA		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33520922	T	A	33520922	3	1	219	1	0	0	0	0	1	0	0	0	559	1606	56	5	615	5	AMAC1	17	33520922	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08		33520922	47674288	35	15256											
KRT20	54474	broad.mit.edu	37	chr17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccataaacgctgggtgtcGtcccgaggcgctgcatgccc	6	7	12	16	4	0	0	0	0	0	0	2	1	1	0	4	2	3	3	4	2	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:39041346G>A	ENST00000167588.3	-	1	133	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	31	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607																																						uc002hvl.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(91-93)aCg>aTg		Homo sapiens keratin 20 (KRT20), mRNA.							44	42	43					17																	39041346		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041346G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.92C>T	17.37:g.39041346G>A	ENSP00000167588:p.Thr31Met						p.T31M	NM_019010	NP_061883	P35900	K1C20_HUMAN			0	150	-		Breast(137;0.000301)|Ovarian(249;0.15)	31			Head.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.92C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428842	0.25726	.	.	ENSG00000171431	ENST00000167588	D	0.83335	-1.71	4.77	-2.49	0.06403	.	0.818256	0.10883	N	0.623597	T	0.62344	0.2420	N	0.08118	0	0.18873	N	0.999988	P	0.39071	0.658	B	0.33521	0.165	T	0.51965	-0.8638	10	0.33940	T	0.23	.	11.6406	0.51230	0.3279:0.0:0.6721:0.0	.	31	P35900	K1C20_HUMAN	M	31	ENSP00000167588:T31M	ENSP00000167588:T31M	T	-	2	0	KRT20	36294872	.	.	0.003000	0.11579	0.007000	0.05969	.	.	-0.477000	0.06832	-0.940000	0.02684	ACG		0.607	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			A	39041346	G	A	39041346	3	1	219	1	0	0	0	0	1	0	0	0	8458	1145	40	1	1214	1	KRT20	17	39041346	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	5520424	39041346	42153864	36	15257											
TBKBP1	9755	broad.mit.edu	37	chr17	45776024	45776024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagctgcggcaacagCaaggcctccaggatgcagcc	11	3	13	14	1	0	0	0	0	0	0	1	1	1	1	3	3	8	6	3	3	2	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:45776024C>G	ENST00000361722.3	+	4	1366	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GCGGCAACAGCAAGGCCTCCA	0.647											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ilu.3																			0				endometrium(5)|kidney(1)|lung(1)	7						c.(517-519)Caa>Gaa		Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA.							29	32	31					17																	45776024		1998	4162	6160	SO:0001583	missense	9755				innate immune response			g.chr17:45776024C>G	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.517C>G	17.37:g.45776024C>G	ENSP00000354777:p.Gln173Glu		OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934		p.Q173E	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			3	1366	+			173						Missense_Mutation	SNP	ENST00000361722.3	37	c.517C>G	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176100	0.38413	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.47869	0.83;0.83	5.61	5.61	0.85477	.	0.327541	0.28809	N	0.014067	T	0.28632	0.0709	N	0.08118	0	0.37713	D	0.92463	B	0.12013	0.005	B	0.08055	0.003	T	0.16512	-1.0400	10	0.38643	T	0.18	-3.9981	12.849	0.57846	0.0:0.8362:0.1638:0.0	.	173	A7MCY6	TBKB1_HUMAN	E	173	ENSP00000354777:Q173E;ENSP00000446365:Q173E	ENSP00000354777:Q173E	Q	+	1	0	TBKBP1	43131023	0.998000	0.40836	0.982000	0.44146	0.749000	0.42624	2.791000	0.47829	2.642000	0.89623	0.650000	0.86243	CAA		0.647	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		G	45776024	C	G	45776024	3	3	219	1	0	0	0	0	1	0	0	0	15635	711	25	5	531	5	TBKBP1	17	45776024	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	6734678	45776024	35419186	37	15258											
EXOC7	23265	broad.mit.edu	37	chr17	74084564	74084564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgttgtctgcgaagTcctccagcgctttggcaccg	5	12	11	13	3	1	1	0	1	1	0	3	2	3	1	4	1	2	3	4	1	1	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:74084564T>G	ENST00000335146.7	-	11	1486	c.1433A>C	c.(1432-1434)gAc>gCc	p.D478A	EXOC7_ENST00000332065.5_Missense_Mutation_p.D396A|EXOC7_ENST00000607838.1_Missense_Mutation_p.D450A|EXOC7_ENST00000589210.1_Missense_Mutation_p.D427A|EXOC7_ENST00000411744.2_Missense_Mutation_p.D419A|EXOC7_ENST00000467929.2_Missense_Mutation_p.D386A|EXOC7_ENST00000405575.4_Missense_Mutation_p.D450A			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	478					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTGCGAAGTCCTCCAGCGC	0.632																																						uc002jqs.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(1432-1434)gAc>gCc		Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.							126	100	108					17																	74084564		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74084564T>G	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1433A>C	17.37:g.74084564T>G	ENSP00000334100:p.Asp478Ala					EXOC7_uc010dgv.2_Missense_Mutation_p.D374A|EXOC7_uc010wsv.2_Missense_Mutation_p.D386A|EXOC7_uc010wsw.2_Missense_Mutation_p.D450A|EXOC7_uc002jqq.3_Missense_Mutation_p.D427A|EXOC7_uc010wsx.2_Missense_Mutation_p.D419A|EXOC7_uc002jqr.3_Missense_Mutation_p.D396A	p.D478A	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		10	1528	-			478					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.1433A>C	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606873	0.66558	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.19	5.19	0.71726	Cullin repeat-like-containing domain (1);	0.217830	0.46145	D	0.000307	T	0.47097	0.1427	N	0.25647	0.755	0.80722	D	1	B;B;B;B;B;B;B	0.29886	0.26;0.012;0.008;0.033;0.167;0.123;0.059	B;B;B;B;B;B;B	0.29862	0.04;0.004;0.058;0.04;0.042;0.108;0.015	T	0.50294	-0.8845	9	0.62326	D	0.03	-29.6733	15.0327	0.71720	0.0:0.0:0.0:1.0	.	419;450;386;386;478;396;427	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	A	396;316;450;478;427;386;419	.	ENSP00000333806:D396A	D	-	2	0	EXOC7	71596159	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.922000	0.87538	1.947000	0.56498	0.533000	0.62120	GAC		0.632	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		G	74084564	T	G	74084564	3	3	219	1	0	0	0	0	1	0	0	0	5310	1667	58	5	814	5	EXOC7	17	74084564	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	28308540	74084564	7110646	38	15259											
ZNF407	55628	broad.mit.edu	37	chr18	72775660	72775660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatgcattgctctgtGcggtcactgaattaggggag	7	11	14	9	1	2	1	1	1	1	0	2	3	2	3	1	4	3	2	1	4	2	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr18:72775660G>A	ENST00000299687.5	+	8	5983	c.5983G>A	c.(5983-5985)Gcg>Acg	p.A1995T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1995					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTGCTCTGTGCGGTCACTGA	0.627																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5983-5985)Gcg>Acg		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							15	20	18					18																	72775660		2103	4210	6313	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775660G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5983G>A	18.37:g.72775660G>A	ENSP00000299687:p.Ala1995Thr						p.A1995T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	7	6036	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1995					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5983G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537724	0.65085	.	.	ENSG00000215421	ENST00000299687	T	0.24350	1.86	4.7	4.7	0.59300	.	.	.	.	.	T	0.51991	0.1707	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58064	-0.7702	9	0.87932	D	0	.	17.6634	0.88198	0.0:0.0:1.0:0.0	.	1995	Q9C0G0	ZN407_HUMAN	T	1995	ENSP00000299687:A1995T	ENSP00000299687:A1995T	A	+	1	0	ZNF407	70904648	1.000000	0.71417	0.872000	0.34217	0.090000	0.18270	8.636000	0.91010	2.174000	0.68829	0.561000	0.74099	GCG		0.627	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72775660	G	A	72775660	3	1	219	1	0	0	0	0	1	0	0	0	17884	1319	46	3	6143	3	ZNF407	18	72775660	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		72775660	5301588	39	15260											
FBN3	84467	broad.mit.edu	37	chr19	8176555	8176555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcagaagaagccatccccgGcaaagccctggcggcaggtg	10	3	14	14	3	0	2	0	0	0	2	1	2	1	2	4	4	2	3	4	4	3	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:8176555G>A	ENST00000600128.1	-	32	4475	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V	FBN3_ENST00000270509.2_Missense_Mutation_p.A1354V|FBN3_ENST00000601739.1_Missense_Mutation_p.A1354V			Q75N90	FBN3_HUMAN	fibrillin 3	1354	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCATCCCCGGCAAAGCCCTG	0.637																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4060-4062)gCc>gTc		Homo sapiens fibrillin 3 (FBN3), mRNA.							28	29	29					19																	8176555		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176555G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4061C>T	19.37:g.8176555G>A	ENSP00000470498:p.Ala1354Val						p.A1354V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			30	4078	-			1354			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4061C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	4.476	0.088225	0.08583	.	.	ENSG00000142449	ENST00000270509	D	0.92048	-2.96	3.57	-1.7	0.08159	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	15.586900	0.02226	N	0.064439	T	0.81069	0.4746	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70121	-0.4959	10	0.38643	T	0.18	.	3.5736	0.07926	0.3436:0.0:0.2917:0.3647	.	1354	Q75N90	FBN3_HUMAN	V	1354	ENSP00000270509:A1354V	ENSP00000270509:A1354V	A	-	2	0	FBN3	8082555	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.730000	0.26043	-0.225000	0.09913	0.313000	0.20887	GCC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8176555	G	A	8176555	3	1	219	1	0	0	0	0	1	0	0	0	5704	1203	42	3	4500	3	FBN3	19	8176555	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		8176555	50952428	40	15261											
ZNF101	94039	broad.mit.edu	37	chr19	19790246	19790247	+	Frame_Shift_Ins	INS	-	-	C																															gaaacaacatgggaaagcctINSccatttcccccagtagtggt																										TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:19790246_19790247insC	ENST00000592502.1	+	4	558_559	c.448_449insC	c.(448-450)tccfs	p.S150fs	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Frame_Shift_Ins_p.S30fs			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGGGAAAGCCTCCATTTCCCCC	0.51																																						uc002nni.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(448-450)tccfs		Homo sapiens zinc finger protein 101 (ZNF101), mRNA.																																				SO:0001589	frameshift_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790246_19790247insC	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.450dupC	19.37:g.19790248_19790248dupC	ENSP00000468049:p.Ser150fs					ZNF101_uc010ecg.2_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.2_Frame_Shift_Ins_p.S30fs	p.S150fs	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			3	558_559	+			150					C9JU83|Q0VDG9	Frame_Shift_Ins	INS	ENST00000592502.1	37	c.448_449insC	CCDS32971.1																																																																																				0.51	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		C	19790247	-	C	19790246	7	5	219	1	0	1	1	0	0	0	0	0	17711	1551	54	0	462	0	ZNF101	19	19790246	Frame_Shift_Ins	INS	-	TCGA-28-5220-01A-01D-1486-08	11613691	19790246	39338737	41	15262											
CCDC155	147872	broad.mit.edu	37	chr19	49910497	49910497	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggctcctttcttggcagCggcagctctttgagtgtgaa	6	12	12	11	2	2	2	0	2	2	0	3	2	3	2	2	3	2	4	2	3	1	3	rs568170851	byFrequency	TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:49910497C>T	ENST00000447857.3	+	11	1082	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	293						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCTTGGCAGCGGCAGCTCTT	0.592													c|||	2	0.000399361	8e-04	0.0014	5008	,	,		15257	0		0	False		,,,				2504	0					uc002pnm.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.e11-1		Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.							46	56	53					19																	49910497		1968	4143	6111	SO:0001630	splice_region_variant	147872					integral to membrane	calcium ion binding	g.chr19:49910497C>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.877-1C>T	19.37:g.49910497C>T						CCDC155_uc010emx.2_Splice_Site_p.R266_splice	p.R293_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			11	1082	+			293					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.877_splice	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	c	9.505	1.104145	0.20632	.	.	ENSG00000161609	ENST00000447857	T	0.35605	1.3	4.42	-2.34	0.06704	.	0.922430	0.09090	N	0.850004	T	0.23649	0.0572	L	0.43701	1.375	0.27109	N	0.96242	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.27571	-1.0070	9	.	.	.	-8.6048	3.612	0.08063	0.2902:0.4459:0.0:0.2639	.	293;293	C9JGW3;Q8N6L0	.;CC155_HUMAN	W	293	ENSP00000404220:R293W	.	R	+	1	2	CCDC155	54602309	0.996000	0.38824	0.992000	0.48379	0.426000	0.31534	0.059000	0.14322	-0.318000	0.08665	-1.218000	0.01608	CGG		0.592	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688	Missense_Mutation	T	49910497	C	T	49910497	5	4	219	1	0	0	0	0	0	0	1	0	2788	782	27	1	915	1	CCDC155	19	49910497	Splice_Site	SNP	C	TCGA-28-5220-01A-01D-1486-08	30120251	49910497	9218486	42	15263											
TBC1D17	79735	broad.mit.edu	37	chr19	50387771	50387771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctctacgtcattcagaaCgaggtggatgctttctggtg	8	13	11	9	2	4	1	2	0	2	1	5	3	5	2	1	3	3	1	1	3	2	3	rs201269112		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:50387771C>T	ENST00000221543.5	+	12	1598	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	TBC1D17_ENST00000535102.2_Silent_p.N400N	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	433	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATTCAGAACGAGGTGGATG	0.607																																						uc002pqo.3																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1297-1299)aaC>aaT		Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.							191	186	188					19																	50387771		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50387771C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1299C>T	19.37:g.50387771C>T						TBC1D17_uc010ybg.2_Silent_p.N400N|TBC1D17_uc002pqp.3_Silent_p.N84N|TBC1D17_uc002pqr.3_Silent_p.N84N	p.N433N	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	11	1598	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	433			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1299C>T	CCDS12785.1																																																																																				0.607	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		T	50387771	C	T	50387771	2	4	219	1	0	0	0	0	0	0	0	1	15603	535	19	1		1	TBC1D17	19	50387771	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08	477274	50387771	8741212	43	15264											
TGM2	7052	broad.mit.edu	37	chr20	36789862	36789862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgtctacactggcctcGtagttgcggccctcaaagtg	8	10	11	12	2	2	1	1	0	1	1	3	1	2	1	2	2	2	2	2	2	3	3	rs372553139		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:36789862G>A	ENST00000361475.2	-	2	323	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Silent_p.Y50Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	50					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642																																						uc002xhr.3																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(148-150)taC>taT		Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	L-Glutamine(DB00130)						73	56	62					20																	36789862		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36789862G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.150C>T	20.37:g.36789862G>A						TGM2_uc010zvx.2_Silent_p.Y50Y|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.3_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	p.Y50Y	NM_004613	NP_004604	P21980	TGM2_HUMAN			1	250	-		Myeloproliferative disorder(115;0.00878)	50					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.150C>T	CCDS13302.1																																																																																				0.642	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		A	36789862	G	A	36789862	2	1	219	1	0	0	0	0	0	0	0	1	15827	1140	40	1		1	TGM2	20	36789862	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08		36789862	26235658	44	15265											
PFDN4	5203	broad.mit.edu	37	chr20	52830966	52830966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaatacaagtagaatcaCagagctgaaggaagaaatag	20	5	11	5	1	1	4	1	1	0	3	1	6	1	6	0	2	2	2	0	2	9	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:52830966C>T	ENST00000371419.2	+	2	355	c.101C>T	c.(100-102)aCa>aTa	p.T34I	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	34					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AGTAGAATCACAGAGCTGAAG	0.284																																						uc002xwx.3																			0				endometrium(1)|kidney(2)	3						c.(100-102)aCa>aTa		Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.							31	30	30					20																	52830966		2203	4295	6498	SO:0001583	missense	5203				'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	g.chr20:52830966C>T	U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"prefoldin 4"			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.101C>T	20.37:g.52830966C>T	ENSP00000360473:p.Thr34Ile						p.T34I	NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		1	239	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		34					Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	c.101C>T	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623584	0.66901	.	.	ENSG00000101132	ENST00000371419	T	0.43688	0.94	4.96	4.96	0.65561	Prefoldin beta-like (1);Prefoldin (1);	0.090164	0.85682	D	0.000000	T	0.54822	0.1882	L	0.60455	1.87	0.58432	D	0.999997	D	0.56746	0.977	P	0.55615	0.78	T	0.52601	-0.8554	10	0.37606	T	0.19	-30.5726	17.5354	0.87829	0.0:1.0:0.0:0.0	.	34	Q9NQP4	PFD4_HUMAN	I	34	ENSP00000360473:T34I	ENSP00000360473:T34I	T	+	2	0	PFDN4	52264373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	2.451000	0.82905	0.655000	0.94253	ACA		0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		T	52830966	C	T	52830966	3	4	219	1	0	0	0	0	1	0	0	0	11757	478	17	3	107	3	PFDN4	20	52830966	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	16041104	52830966	10194554	45	15266											
TRPM2	7226	broad.mit.edu	37	chr21	45786659	45786659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgagtctcccaggacaCgccctccagcgtgatctacc	7	7	9	18	4	2	1	0	1	2	0	5	3	4	2	5	1	2	0	5	1	1	1	rs575116901		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr21:45786659C>G	ENST00000397928.1	+	4	891	c.446C>G	c.(445-447)aCg>aGg	p.T149R	TRPM2_ENST00000397932.2_Missense_Mutation_p.T149R|TRPM2_ENST00000300481.9_Missense_Mutation_p.T149R|TRPM2_ENST00000300482.5_Missense_Mutation_p.T149R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	149					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCCAGGACACGCCCTCCAGC	0.617																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(445-447)aCg>aGg		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							73	65	68					21																	45786659		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786659C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.446C>G	21.37:g.45786659C>G	ENSP00000381023:p.Thr149Arg					TRPM2_uc002zet.1_Missense_Mutation_p.T149R|TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	p.T149R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			3	546	+			149					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.446C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365768	0.61513	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	4.12	4.12	0.48240	.	0.000000	0.85682	U	0.000000	T	0.36663	0.0975	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51957	-0.8639	10	0.87932	D	0	-15.7343	16.7053	0.85370	0.0:1.0:0.0:0.0	.	149;149	E9PGK7;O94759	.;TRPM2_HUMAN	R	149	ENSP00000300482:T149R;ENSP00000381023:T149R;ENSP00000300481:T149R;ENSP00000381026:T149R	ENSP00000300481:T149R	T	+	2	0	TRPM2	44611087	1.000000	0.71417	0.902000	0.35471	0.180000	0.23129	5.426000	0.66476	1.995000	0.58328	0.297000	0.19635	ACG		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		G	45786659	C	G	45786659	3	3	219	1	0	0	0	0	1	0	0	0	16583	536	19	5	460	5	TRPM2	21	45786659	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		45786659	2343236	46	15267											
PICK1	9463	broad.mit.edu	37	chr22	38471061	38471061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaagacacGgcagctggggagccgtccag	11	2	20	8	2	0	1	0	0	0	1	1	7	1	6	2	7	2	2	2	7	1	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:38471061G>A	ENST00000404072.3	+	13	1517	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.T390T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	390					ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					aggaagaCACGGCAGCTGGGG	0.642																																						uc003auq.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1168-1170)acG>acA		Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.							50	43	45					22																	38471061		2203	4300	6503	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38471061G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1170G>A	22.37:g.38471061G>A						PICK1_uc003aur.3_Silent_p.T390T|PICK1_uc003aus.3_Silent_p.T390T|PICK1_uc003aut.3_Silent_p.T390T	p.T390T	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			12	1560	+	Melanoma(58;0.045)		390					B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.1170G>A	CCDS13965.1																																																																																				0.642	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		A	38471061	G	A	38471061	2	1	219	1	0	0	0	0	0	0	0	1	11881	1103	39	2		2	PICK1	22	38471061	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08		38471061	12833505	47	15268											
RIBC2	26150	broad.mit.edu	37	chr22	45813805	45813805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaatggaagaacgccCgtgctgaacaaaaatgcgca	17	4	12	8	3	0	2	0	1	0	1	0	4	0	4	1	2	4	2	1	2	7	0	rs137932273		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:45813805C>T	ENST00000342894.3	+	3	730	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	RIBC2_ENST00000538017.1_Missense_Mutation_p.R174C			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	106						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418													C|||	1	0.000199681	0	0	5008	,	,		15457	0		0.001	False		,,,				2504	0					uc011aqs.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(517-519)Cgt>Tgt		Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	33	34	34		519	3.6	0.2	22	dbSNP_134	34	1,8591		0,1,4295	no	missense	RIBC2	NM_015653.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	174/378	45813805	1,12997	2203	4296	6499	SO:0001583	missense	26150							g.chr22:45813805C>T	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.316C>T	22.37:g.45813805C>T	ENSP00000342529:p.Arg106Cys						p.R173C	NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	726	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	C	15.66	2.899267	0.52227	0.0	1.16E-4	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.24538	1.85;1.85	4.6	3.58	0.41010	.	0.463445	0.18560	N	0.137658	T	0.40791	0.1131	.	.	.	0.24893	N	0.992155	D	0.76494	0.999	P	0.60682	0.878	T	0.10965	-1.0607	9	0.56958	D	0.05	-1.2724	9.5593	0.39360	0.0:0.8323:0.0:0.1677	.	106	Q9H4K1	RIBC2_HUMAN	C	106;174	ENSP00000342529:R106C;ENSP00000444196:R174C	ENSP00000342529:R106C	R	+	1	0	RIBC2	44192469	0.009000	0.17119	0.204000	0.23530	0.077000	0.17291	0.683000	0.25349	2.067000	0.61834	0.563000	0.77884	CGT		0.418	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		T	45813805	C	T	45813805	3	4	219	1	0	0	0	0	1	0	0	0	13353	652	23	2	529	2	RIBC2	22	45813805	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	7342744	45813805	5490761	48	15269											
SMC1A	8243	broad.mit.edu	37	chrX	53432322	53432322	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttccatccagtgccactGtctacacacagcagggggaa	10	7	12	12	0	1	0	0	0	1	0	3	1	3	1	3	3	3	2	3	3	2	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:53432322G>T	ENST00000322213.4	-	12	2040	c.1913C>A	c.(1912-1914)aCa>aAa	p.T638K	SMC1A_ENST00000375340.6_Splice_Site_p.T404K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	638	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGTGCCACTGTCTACACACA	0.562																																						uc004dsg.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.e12-1		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							36	32	33					X																	53432322		2203	4300	6503	SO:0001630	splice_region_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432322G>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1912-1C>A	X.37:g.53432322G>T						SMC1A_uc011moe.2_Splice_Site_p.T616_splice|SMC1A_uc011mof.2_Splice_Site_p.T404_splice	p.T638_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			12	1981	-			638			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1912_splice	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378105	0.82682	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86097	-2.07;-2.07	4.89	4.89	0.63831	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.61703	1.905	0.80722	D	1	P;D;P	0.63046	0.936;0.992;0.935	B;P;B	0.48089	0.238;0.566;0.313	D	0.88567	0.3127	10	0.72032	D	0.01	.	16.1667	0.81768	0.0:0.0:1.0:0.0	.	404;616;638	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	K	638;404	ENSP00000323421:T638K;ENSP00000364489:T404K	ENSP00000323421:T638K	T	-	2	0	SMC1A	53449047	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.279000	0.95777	2.423000	0.82170	0.529000	0.55759	ACA		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	Missense_Mutation	T	53432322	G	T	53432322	5	4	219	1	0	0	0	0	0	0	1	0	14781	1391	48	5	1844	5	SMC1A	23	53432322	Splice_Site	SNP	G	TCGA-28-5220-01A-01D-1486-08		53432322	101838238	49	15270											
DNAJC11	55735	broad.mit.edu	37	chr1	6705885	6705885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctggttttagtgtcTcggacgatgctagtgttcat	7	15	13	6	2	2	0	1	0	1	0	3	2	2	1	0	3	1	4	0	3	3	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:6705885T>C	ENST00000377577.5	-	8	981	c.858A>G	c.(856-858)cgA>cgG	p.R286R	DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000294401.7_Silent_p.R286R|DNAJC11_ENST00000542246.1_Silent_p.R248R|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.R196R	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	286						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTAGTGTCTCGGACGATGC	0.587																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(856-858)cgA>cgG		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							139	132	135					1																	6705885		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6705885T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.858A>G	1.37:g.6705885T>C						DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	p.R286R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	7	964	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	286					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.858A>G	CCDS87.1																																																																																				0.587	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		C	6705885	T	C	6705885	2	2	220	1	0	0	0	0	0	0	0	1	4630	1538	54	4		4	DNAJC11	1	6705885	Silent	SNP	T	TCGA-28-6450-01A-11D-1696-08		6705885	242544736	1	15271											
NPPA	4878	broad.mit.edu	37	chr1	11907662	11907662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggacacggcattgtacatgGgattagctctggtctgacct	8	12	12	9	1	2	1	0	1	2	0	2	3	2	3	1	4	2	3	1	4	2	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907662G>C	ENST00000376480.3	-	1	178	c.80C>G	c.(79-81)cCc>cGc	p.P27R	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	27					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTACATGGGATTAGCTCT	0.567																																						uc001ati.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(79-81)cCc>cGc		Homo sapiens natriuretic peptide A (NPPA), mRNA.							219	195	203					1																	11907662		2203	4300	6503	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907662G>C	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.80C>G	1.37:g.11907662G>C	ENSP00000365663:p.Pro27Arg					CLCN6_uc010oba.1_Non-coding_Transcript|CLCN6_uc010oav.1_Non-coding_Transcript|CLCN6_uc010oay.1_Non-coding_Transcript|CLCN6_uc010oax.1_Non-coding_Transcript|CLCN6_uc010oaw.1_Non-coding_Transcript|CLCN6_uc010oaz.1_Non-coding_Transcript	p.P27R	NM_006172	NP_006163	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	0	179	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	27					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.80C>G	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964545	0.34659	.	.	ENSG00000175206	ENST00000376480	T	0.52983	0.64	5.57	5.57	0.84162	.	0.210963	0.42294	D	0.000731	T	0.72700	0.3493	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77498	-0.2565	10	0.87932	D	0	-21.9591	15.0556	0.71910	0.0:0.0:1.0:0.0	.	27	P01160	ANF_HUMAN	R	27	ENSP00000365663:P27R	ENSP00000365663:P27R	P	-	2	0	NPPA	11830249	1.000000	0.71417	0.297000	0.24988	0.061000	0.15899	4.961000	0.63681	2.619000	0.88677	0.491000	0.48974	CCC		0.567	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		C	11907662	G	C	11907662	3	2	220	1	0	0	0	0	1	0	0	0	10591	1232	43	5	387	5	NPPA	1	11907662	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	5201777	11907662	237342959	2	15272											
NPPA	4878	broad.mit.edu	37	chr1	11907712	11907712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgccagtaaaaggaggaaGctcacggtggtggtggagaa	14	6	16	5	1	1	1	1	0	0	1	1	4	1	3	1	6	2	2	1	6	5	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907712G>C	ENST00000376480.3	-	1	128	c.30C>G	c.(28-30)agC>agG	p.S10R	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	10					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAAGCTCACGGTGG	0.557																																						uc001ati.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(28-30)agC>agG		Homo sapiens natriuretic peptide A (NPPA), mRNA.							220	183	195					1																	11907712		2203	4300	6503	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907712G>C	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.30C>G	1.37:g.11907712G>C	ENSP00000365663:p.Ser10Arg						p.S10R	NM_006172	NP_006163	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	0	129	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	10					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.30C>G	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	7.576	0.667832	0.14710	.	.	ENSG00000175206	ENST00000376480	T	0.50813	0.73	5.57	3.71	0.42584	.	0.438058	0.25762	N	0.028461	T	0.48040	0.1478	M	0.76838	2.35	0.80722	D	1	P	0.37864	0.61	B	0.40534	0.332	T	0.35847	-0.9772	10	0.25106	T	0.35	-2.9477	8.2422	0.31667	0.1806:0.0:0.8194:0.0	.	10	P01160	ANF_HUMAN	R	10	ENSP00000365663:S10R	ENSP00000365663:S10R	S	-	3	2	NPPA	11830299	0.764000	0.28473	0.477000	0.27303	0.079000	0.17450	2.309000	0.43699	0.724000	0.32296	0.491000	0.48974	AGC		0.557	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		C	11907712	G	C	11907712	3	2	220	1	0	0	0	0	1	0	0	0	10591	962	34	5	437	5	NPPA	1	11907712	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	50	11907712	237342909	3	15273											
ADC	113451	broad.mit.edu	37	chr1	33583641	33583641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgacaacatgggcgccTacactgtgggcatgggttcc	7	11	12	11	1	1	1	0	1	1	0	2	1	2	1	2	3	2	2	2	3	2	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:33583641T>A	ENST00000294517.6	+	11	1755	c.1168T>A	c.(1168-1170)Tac>Aac	p.Y390N	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.Y410N|ADC_ENST00000373441.1_Missense_Mutation_p.Y410N|ADC_ENST00000373443.3_Missense_Mutation_p.Y390N	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		390					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CATGGGCGCCTACACTGTGGG	0.632																																						uc009vug.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1228-1230)Tac>Aac		Homo sapiens arginine decarboxylase (ADC), mRNA.	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						60	67	64					1																	33583641		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583641T>A																												ENST00000294517.6:c.1168T>A	1.37:g.33583641T>A	ENSP00000294517:p.Tyr390Asn					ADC_uc001bwr.3_Missense_Mutation_p.Y390N|ADC_uc001bws.3_Missense_Mutation_p.Y390N|ADC_uc009vue.3_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.3_Missense_Mutation_p.Y295N|ADC_uc001bwv.3_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N	p.Y410N	NM_052998	NP_443724	Q96A70	ADC_HUMAN			7	1300	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	390					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1228T>A	CCDS375.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016364	0.54468	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.92	4.92	0.64577	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.56097	D	0.000033	D	0.90549	0.7038	M	0.93898	3.47	0.80722	D	1	P;D;D	0.67145	0.928;0.996;0.996	P;P;P	0.60236	0.463;0.871;0.871	D	0.92266	0.5821	10	0.51188	T	0.08	-17.3996	13.8529	0.63508	0.0:0.0:0.0:1.0	.	410;295;390	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	N	390;390;410;410	ENSP00000294517:Y390N;ENSP00000362542:Y390N;ENSP00000381233:Y410N;ENSP00000362540:Y410N	ENSP00000294517:Y390N	Y	+	1	0	ADC	33356228	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.880000	0.69698	1.971000	0.57363	0.491000	0.48974	TAC		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			A	33583641	T	A	33583641	3	1	220	1	0	0	0	0	1	0	0	0	287	1522	53	5	1198	5	ADC	1	33583641	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	21675929	33583641	215666980	4	15274											
FLG	2312	broad.mit.edu	37	chr1	152285965	152285965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctggtagagggaagacCctgaacgtccagaccgttcc	10	7	11	13	2	1	4	1	1	0	3	3	5	3	5	5	2	1	2	5	2	3	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:152285965C>A	ENST00000368799.1	-	3	1432	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	466	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGGAAGACCCTGAACGTCC	0.607									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1396-1398)gGg>gTg		Homo sapiens filaggrin (FLG), mRNA.							220	209	212					1																	152285965		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285965C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1397G>T	1.37:g.152285965C>A	ENSP00000357789:p.Gly466Val					AK056431_uc001ezv.3_Non-coding_Transcript	p.G466V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1433	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		466			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1397G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.382	1.073339	0.20147	.	.	ENSG00000143631	ENST00000368799	T	0.02345	4.33	3.29	-0.631	0.11526	.	.	.	.	.	T	0.03178	0.0093	M	0.65320	2	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.35822	-0.9773	9	0.37606	T	0.19	.	3.2475	0.06802	0.0:0.4439:0.2129:0.3432	.	466	P20930	FILA_HUMAN	V	466	ENSP00000357789:G466V	ENSP00000357789:G466V	G	-	2	0	FLG	150552589	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.565000	0.05929	-0.232000	0.09811	0.505000	0.49811	GGG		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285965	C	A	152285965	3	1	220	1	0	0	0	0	1	0	0	0	5922	623	22	5	10792	5	FLG	1	152285965	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	118702324	152285965	96964656	5	15275											
AQP10	89872	broad.mit.edu	37	chr1	154293715	154293715	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtgcctggcagagttTctgggtgtgtttgtactcat	5	14	14	8	1	2	1	1	0	1	1	2	1	2	1	1	3	2	5	1	3	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:154293715T>C	ENST00000324978.3	+	1	124	c.84T>C	c.(82-84)ttT>ttC	p.F28F	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Silent_p.F28F	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	28					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAGAGTTTCTGGGTGTGT	0.552																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(82-84)ttT>ttC		Homo sapiens aquaporin 10 (AQP10), mRNA.							48	47	47					1																	154293715		2203	4300	6503	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154293715T>C	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.84T>C	1.37:g.154293715T>C							p.F28F	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		0	124	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		28					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.84T>C	CCDS1065.1																																																																																				0.552	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		C	154293715	T	C	154293715	2	2	220	1	0	0	0	0	0	0	0	1	822	1780	62	4		4	AQP10	1	154293715	Silent	SNP	T	TCGA-28-6450-01A-11D-1696-08	2007750	154293715	94956906	6	15276											
EFNA3	1944	broad.mit.edu	37	chr1	155058900	155058900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccacagaagactttgagGgagagaaccctcaggtgccc	11	7	12	11	0	1	4	1	1	0	3	2	6	2	5	3	2	2	0	3	2	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:155058900G>A	ENST00000368408.3	+	5	668	c.598G>A	c.(598-600)Gga>Aga	p.G200R	EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.G195R|EFNA3_ENST00000556931.1_Missense_Mutation_p.G195R|EFNA3_ENST00000418360.2_Missense_Mutation_p.G174R	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	200					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGACTTTGAGGGAGAGAACCC	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fhf.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(598-600)Gga>Aga		Homo sapiens ephrin-A3 (EFNA3), mRNA.							81	77	78					1																	155058900		2203	4300	6503	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058900G>A	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"Ephrins"	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.598G>A	1.37:g.155058900G>A	ENSP00000357393:p.Gly200Arg		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_uc010pew.2_Missense_Mutation_p.G195R|EFNA3_uc010pex.2_Missense_Mutation_p.G174R	p.G200R	NM_004952	NP_004943	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	668	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		200					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.598G>A	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230376	0.39399	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.95756	-3.32;-3.29;-3.8;-3.32	4.34	4.34	0.51931	.	0.683869	0.13324	N	0.396462	D	0.92315	0.7562	N	0.08118	0	0.41115	D	0.985777	D;D;D	0.69078	0.991;0.997;0.981	P;D;P	0.63597	0.831;0.916;0.81	D	0.92243	0.5802	10	0.42905	T	0.14	-15.5201	14.7077	0.69203	0.0:0.0:1.0:0.0	.	174;195;200	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	R	195;200;174;195	ENSP00000450814:G195R;ENSP00000357393:G200R;ENSP00000391370:G174R;ENSP00000426741:G195R	ENSP00000357393:G200R	G	+	1	0	RP11-540D14.8;EFNA3	153325524	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	2.632000	0.46511	2.396000	0.81511	0.462000	0.41574	GGA		0.632	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		A	155058900	G	A	155058900	3	1	220	1	0	0	0	0	1	0	0	0	4952	1233	43	3	616	3	EFNA3	1	155058900	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	765185	155058900	94191721	7	15277											
AIM2	9447	broad.mit.edu	37	chr1	159043117	159043117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcactgcagacaccGccccagcattttgaatcatc	10	11	5	15	1	4	2	3	1	1	1	5	2	4	2	3	0	2	2	3	0	1	3	rs149324922		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:159043117G>A	ENST00000368130.4	-	2	461	c.173C>T	c.(172-174)gCg>gTg	p.A58V	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	58	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGCAGACACCGCCCCAGCATT	0.393																																						uc001ftj.1																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(172-174)gCg>gTg		Homo sapiens absent in melanoma 2 (AIM2), mRNA.		G	VAL/ALA	0,4406		0,0,2203	88	89	89		173	-7.3	0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	AIM2	NM_004833.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	58/344	159043117	1,13005	2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043117G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.173C>T	1.37:g.159043117G>A	ENSP00000357112:p.Ala58Val						p.A58V	NM_004833	NP_004824	O14862	AIM2_HUMAN			1	418	-	all_hematologic(112;0.0429)		58			DAPIN.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.173C>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797207	0.16327	0.0	1.16E-4	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.45276	0.9;0.9	3.67	-7.33	0.01431	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.07548	0.0190	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18618	-1.0331	9	0.56958	D	0.05	-0.0116	4.5128	0.11919	0.2332:0.178:0.488:0.1008	.	58	O14862	AIM2_HUMAN	V	58	ENSP00000357112:A58V;ENSP00000405197:A58V	ENSP00000357112:A58V	A	-	2	0	AIM2	157309741	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.278000	0.02809	-2.749000	0.00375	-0.648000	0.03929	GCG		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		A	159043117	G	A	159043117	3	1	220	1	0	0	0	0	1	0	0	0	432	1087	38	1	878	1	AIM2	1	159043117	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	3984217	159043117	90207504	8	15278											
C1orf14	81626	broad.mit.edu	37	chr1	182908331	182908331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcgtaaatcttcccaCattttcagtaatccacagag	12	10	8	11	2	2	1	1	0	1	1	4	2	4	2	2	2	0	2	2	2	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:182908331C>G	ENST00000367547.3	-	5	1292	c.1056G>C	c.(1054-1056)atG>atC	p.M352I	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.M233I	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	424										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATCTTCCCACATTTTCAGTA	0.338																																						uc001gpu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1054-1056)atG>atC		Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.							75	73	74					1																	182908331		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182908331C>G	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1056G>C	1.37:g.182908331C>G	ENSP00000356518:p.Met352Ile					SHCBP1L_uc001gpv.3_Missense_Mutation_p.M233I|SHCBP1L_uc010pnz.2_Missense_Mutation_p.M210I|SHCBP1L_uc001gpw.3_Missense_Mutation_p.M72I	p.M352I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN			4	1341	-			424					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1056G>C	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522196	0.27211	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.40756	1.02;1.02	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000007	T	0.27967	0.0689	L	0.27053	0.805	0.39008	D	0.959487	B;B;B	0.15473	0.013;0.0;0.008	B;B;B	0.15484	0.006;0.001;0.013	T	0.12863	-1.0531	10	0.22706	T	0.39	-9.4868	9.7158	0.40274	0.0:0.905:0.0:0.095	.	424;233;352	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	I	352;421;233	ENSP00000356518:M352I;ENSP00000397308:M233I	ENSP00000287709:M421I	M	-	3	0	SHCBP1L	181174954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.840000	0.27600	2.381000	0.81170	0.563000	0.77884	ATG		0.338	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		G	182908331	C	G	182908331	3	3	220	1	0	0	0	0	1	0	0	0	2000	478	17	5	929	5	C1orf14	1	182908331	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	23865214	182908331	66342290	9	15279											
TLR5	7100	broad.mit.edu	37	chr1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttttggatagatccaagcGagttaaagcctttaaatttc	13	15	7	6	1	0	1	0	0	0	1	2	3	1	2	2	1	2	1	2	1	6	7	rs201906412		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:223285929G>A	ENST00000540964.1	-	4	906	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	TLR5_ENST00000342210.6_Missense_Mutation_p.R149C			O60602	TLR5_HUMAN	toll-like receptor 5	149					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368																																						uc021pjl.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(445-447)Cgc>Tgc		Homo sapiens toll-like receptor 5 (TLR5), mRNA.							74	74	74					1																	223285929		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285929G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.445C>T	1.37:g.223285929G>A	ENSP00000440643:p.Arg149Cys					TLR5_uc001hnv.2_Missense_Mutation_p.R149C|TLR5_uc001hnw.2_Missense_Mutation_p.R149C	p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	0	445	-			149					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.445C>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970939	0.53614	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57752	0.38;0.38;0.38	5.03	4.06	0.47325	.	1.095890	0.06776	N	0.784336	T	0.62853	0.2462	M	0.72479	2.2	0.09310	N	1	D	0.58970	0.984	P	0.56514	0.8	T	0.54879	-0.8227	10	0.54805	T	0.06	.	2.9129	0.05743	0.1585:0.1594:0.5381:0.1439	.	149	O60602	TLR5_HUMAN	C	149	ENSP00000440643:R149C;ENSP00000355846:R149C;ENSP00000340089:R149C	ENSP00000340089:R149C	R	-	1	0	TLR5	221352552	0.000000	0.05858	0.954000	0.39281	0.930000	0.56654	-0.007000	0.12810	2.483000	0.83821	0.655000	0.94253	CGC		0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223285929	G	A	223285929	3	1	220	1	0	0	0	0	1	0	0	0	15951	1058	37	2	2135	2	TLR5	1	223285929	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	40377598	223285929	25964692	10	15280											
DHX57	90957	broad.mit.edu	37	chr2	39088222	39088222	+	Frame_Shift_Del	DEL	A	A	-																															attatttattctggtcctagAgggtactggcagaaagttca																								rs540582868		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:39088222delA	ENST00000295373.6	-	5	1456	c.1330delT	c.(1330-1332)tctfs	p.S444fs	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	444							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGGTCCTAGAGGGTACTGGC	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1330-1332)tctfs		Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.							124	128	127					2																	39088222		2203	4300	6503	SO:0001589	frameshift_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088222delA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1330delT	2.37:g.39088222delA	ENSP00000295373:p.Ser444fs					DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Frame_Shift_Del_p.S444fs	p.S444fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			4	1429	-		all_hematologic(82;0.248)	444					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Frame_Shift_Del	DEL	ENST00000295373.6	37	c.1330delT	CCDS1800.1																																																																																				0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		-	39088222	A	-	39088222	7	5	220	1	0	1	0	1	0	0	0	0	4513	304	11	0	2910	0	DHX57	2	39088222	Frame_Shift_Del	DEL	A	TCGA-28-6450-01A-11D-1696-08		39088222	204111151	11	15281											
SEMA4F	10505	broad.mit.edu	37	chr2	74902997	74902997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtgcctggagcttccGgctggatgagtgtgtggccc	4	11	16	10	1	1	1	0	1	1	0	2	3	2	3	3	4	2	2	3	4	0	1	rs146294784		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:74902997G>A	ENST00000357877.2	+	12	1753	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.R380Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	535	PSI.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGAGCTTCCGGCTGGATGAG	0.587																																						uc002sna.1																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1603-1605)cGg>cAg		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.		G	GLN/ARG	0,4406		0,0,2203	73	69	71		1604	0.6	1	2	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	no	missense	SEMA4F	NM_004263.3	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	535/771	74902997	3,13003	2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902997G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1604G>A	2.37:g.74902997G>A	ENSP00000350547:p.Arg535Gln					SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	p.R535Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN			11	1715	+			535			PSI.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1604G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	9.668	1.146065	0.21288	0.0	3.49E-4	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.15834	2.39;2.39	4.38	0.55	0.17219	.	3.400850	0.00894	N	0.002276	T	0.11879	0.0289	N	0.20986	0.625	0.30091	N	0.808311	B;B	0.17038	0.02;0.004	B;B	0.13407	0.006;0.009	T	0.29058	-1.0024	10	0.13108	T	0.6	.	6.5029	0.22178	0.4218:0.0:0.5782:0.0	.	380;535	O95754-2;O95754	.;SEM4F_HUMAN	Q	535;380	ENSP00000350547:R535Q;ENSP00000342675:R380Q	ENSP00000342675:R380Q	R	+	2	0	SEMA4F	74756505	0.000000	0.05858	0.992000	0.48379	0.748000	0.42578	-0.090000	0.11163	-0.081000	0.12662	0.467000	0.42956	CGG		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74902997	G	A	74902997	3	1	220	1	0	0	0	0	1	0	0	0	14035	1116	39	2	1650	2	SEMA4F	2	74902997	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	35814775	74902997	168296376	12	15282											
KYNU	8942	broad.mit.edu	37	chr2	143713833	143713833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaagccaaagccttccCttctgatcatgtaaggactt	11	12	7	11	0	3	2	1	1	2	1	4	3	4	3	3	1	2	1	3	1	4	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:143713833C>A	ENST00000264170.4	+	6	755	c.497C>A	c.(496-498)cCt>cAt	p.P166H	KYNU_ENST00000375773.2_Missense_Mutation_p.P166H|KYNU_ENST00000409512.1_Missense_Mutation_p.P166H	NM_003937.2	NP_003928.1			kynureninase									p.P166L(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AAAGCCTTCCCTTCTGATCAT	0.343																																						uc010fnm.3																			1	Substitution - Missense(1)	p.P166L(2)	skin(1)	large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(496-498)cCt>cAt		Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						114	115	115					2																	143713833		2203	4298	6501	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143713833C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.497C>A	2.37:g.143713833C>A	ENSP00000264170:p.Pro166His					KYNU_uc002tvk.3_Missense_Mutation_p.P166H|KYNU_uc002tvl.3_Missense_Mutation_p.P166H	p.P166H	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	6	713	+			166			Pyridoxal phosphate binding.			Missense_Mutation	SNP	ENST00000264170.4	37	c.497C>A	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094686	0.76870	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.84873	-1.91;-1.91;-1.91	4.76	4.76	0.60689	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.120626	0.64402	D	0.000020	D	0.94857	0.8338	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.966	D	0.96482	0.9357	10	0.87932	D	0	.	18.1028	0.89510	0.0:1.0:0.0:0.0	.	166;166	Q16719;Q9BVW3	KYNU_HUMAN;.	H	166	ENSP00000264170:P166H;ENSP00000364928:P166H;ENSP00000386731:P166H	ENSP00000264170:P166H	P	+	2	0	KYNU	143430303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.315000	0.65810	2.361000	0.80049	0.591000	0.81541	CCT		0.343	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		A	143713833	C	A	143713833	3	1	220	1	0	0	0	0	1	0	0	0	8587	681	24	5	515	5	KYNU	2	143713833	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	68810836	143713833	99485540	13	15283											
SPC25	57405	broad.mit.edu	37	chr2	169728042	169728042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaattctgctaggccctCaagatgaggggcactatctg	10	11	11	9	0	3	3	1	2	2	1	3	3	3	3	1	3	1	2	1	3	4	4	rs146133605	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:169728042C>T	ENST00000282074.2	-	7	715	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	192	Interaction with the C-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						GCTAGGCCCTCAAGATGAGGG	0.338																																						uc002uel.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(574-576)Gag>Aag		Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.							88	93	91					2																	169728042		2203	4300	6503	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169728042C>T	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.574G>A	2.37:g.169728042C>T	ENSP00000282074:p.Glu192Lys						p.E192K	NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN			6	705	-			192			Interaction with the C-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.574G>A	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534265	0.64972	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.99	5.11	0.69529	.	0.149485	0.64402	D	0.000017	T	0.55162	0.1903	L	0.61387	1.9	0.58432	D	0.999991	P	0.36974	0.576	B	0.37239	0.244	T	0.58306	-0.7659	9	0.49607	T	0.09	-18.6086	12.9298	0.58280	0.0:0.9223:0.0:0.0777	.	192	Q9HBM1	SPC25_HUMAN	K	192	.	ENSP00000282074:E192K	E	-	1	0	SPC25	169436288	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.295000	0.43576	2.852000	0.98041	0.637000	0.83480	GAG		0.338	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		T	169728042	C	T	169728042	3	4	220	1	0	0	0	0	1	0	0	0	15021	835	29	3	104	3	SPC25	2	169728042	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	26014209	169728042	73471331	14	15284											
LRP2	4036	broad.mit.edu	37	chr2	170050292	170050292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactggtgccttttatcctCgtcactcatatccccacagt	8	13	5	15	1	2	0	2	0	0	0	5	0	4	0	4	1	1	0	4	1	2	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:170050292C>T	ENST00000263816.3	-	47	9094	c.8809G>A	c.(8809-8811)Gag>Aag	p.E2937K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2937	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CTTTTATCCTCGTCACTCATA	0.473																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8809-8811)Gag>Aag		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						253	220	231					2																	170050292		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170050292C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8809G>A	2.37:g.170050292C>T	ENSP00000263816:p.Glu2937Lys						p.E2937K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	46	9022	-			2937			LDL-receptor class A 21.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8809G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.033436	0.97221	.	.	ENSG00000081479	ENST00000263816	D	0.98849	-5.18	5.86	5.86	0.93980	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.045785	0.85682	D	0.000000	D	0.99594	0.9853	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97710	1.0190	10	0.87932	D	0	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	2937	P98164	LRP2_HUMAN	K	2937	ENSP00000263816:E2937K	ENSP00000263816:E2937K	E	-	1	0	LRP2	169758538	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.625000	0.83145	2.778000	0.95560	0.655000	0.94253	GAG		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170050292	C	T	170050292	3	4	220	1	0	0	0	0	1	0	0	0	8956	893	31	2	5290	2	LRP2	2	170050292	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	322250	170050292	73149081	15	15285											
GPD1L	23171	broad.mit.edu	37	chr3	32180198	32180198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagagtgcccaagaaagcGctgggaatcaccctcatcaa	13	5	12	11	1	3	2	3	0	0	2	3	4	3	3	2	2	2	1	2	2	4	0	rs149167213		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:32180198G>A	ENST00000282541.5	+	3	546	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	115					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						CCAAGAAAGCGCTGGGAATCA	0.502																																						uc003cew.3																			0				large_intestine(4)|lung(7)|ovary(1)	12						c.(343-345)gcG>gcA		Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	98	91	94		345	-11.3	0.2	3	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	GPD1L	NM_015141.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		115/352	32180198	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32180198G>A	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.345G>A	3.37:g.32180198G>A							p.A115A	NM_015141	NP_055956	Q8N335	GPD1L_HUMAN			2	546	+			115					A8K9U3|Q14702|Q9BRM5	Silent	SNP	ENST00000282541.5	37	c.345G>A	CCDS33729.1																																																																																				0.502	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		A	32180198	G	A	32180198	2	1	220	1	0	0	0	0	0	0	0	1	6605	1074	38	1		1	GPD1L	3	32180198	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08		32180198	165842232	16	15286											
RUVBL1	8607	broad.mit.edu	37	chr3	127806571	127806571	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcatttcctgtggagtaTacagcatggtccggattatc	8	15	10	8	1	1	0	1	0	0	0	4	2	3	2	2	3	2	3	2	3	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:127806571T>C	ENST00000322623.5	-	9	1196	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	RUVBL1_ENST00000464873.1_Missense_Mutation_p.Y306C|RUVBL1_ENST00000480616.1_5'UTR|RUVBL1_ENST00000417360.1_Missense_Mutation_p.Y366C	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	366					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGTGGAGTATACAGCATGGT	0.507																																						uc003ekh.3																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1096-1098)tAt>tGt		Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.							230	188	202					3																	127806571		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127806571T>C	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1097A>G	3.37:g.127806571T>C	ENSP00000318297:p.Tyr366Cys					RUVBL1_uc003ekf.3_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.3_Missense_Mutation_p.Y366C	p.Y366C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	8	1201	-			366					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.1097A>G	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693768	0.68386	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	T;T;T	0.79454	-1.05;-1.27;-0.72	4.97	3.82	0.43975	TIP49, C-terminal (1);	0.056451	0.64402	N	0.000001	D	0.91560	0.7334	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.984;1.0;1.0	D	0.92068	0.5662	10	0.87932	D	0	-15.0374	10.4596	0.44572	0.0:0.0769:0.0:0.9231	.	366;366;306	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	C	306;366;366;177	ENSP00000420738:Y306C;ENSP00000318297:Y366C;ENSP00000393755:Y366C	ENSP00000318297:Y366C	Y	-	2	0	RUVBL1	129289261	1.000000	0.71417	0.965000	0.40720	0.845000	0.48019	7.828000	0.86729	0.749000	0.32854	0.482000	0.46254	TAT		0.507	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			C	127806571	T	C	127806571	3	2	220	1	0	0	0	0	1	0	0	0	13752	1406	49	4	285	4	RUVBL1	3	127806571	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	95626373	127806571	70215859	17	15287											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	12	12	9	8	0	4	4	1	2	3	2	5	5	4	4	0	2	1	1	0	2	3	3	rs121913286		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		101	Substitution - Missense(101)	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)Cag>Aag		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61	61	61					3																	178936094		1814	4072	5886	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936094C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1793	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1636C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936094	C	A	178936094	3	1	220	1	0	0	0	0	1	0	0	0	11913	711	25	5	1670	5	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	51129523	178936094	19086336	18	15288											
MFSD10	10227	broad.mit.edu	37	chr4	2934851	2934851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggcacagcagcatcacCgggcgcctccccaagcagtc	10	3	10	18	2	1	0	1	0	0	0	3	0	2	0	5	2	3	4	5	2	1	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:2934851C>T	ENST00000329687.4	-	3	888	c.354G>A	c.(352-354)ccG>ccA	p.P118P	MFSD10_ENST00000514800.1_Silent_p.P118P|MFSD10_ENST00000507555.1_Silent_p.P118P|MFSD10_ENST00000355443.4_Silent_p.P118P|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000508221.1_Silent_p.P118P|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	118					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGCATCACCGGGCGCCTCC	0.627																																						uc003gfw.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(352-354)ccG>ccA		Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.							39	42	41					4																	2934851		2198	4300	6498	SO:0001819	synonymous_variant	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934851C>T	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.354G>A	4.37:g.2934851C>T						MFSD10_uc021xks.1_Silent_p.P42P|MFSD10_uc003gfz.3_Silent_p.P118P|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	p.P118P	NM_001120	NP_001139541	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	668	-			118					Q07706	Silent	SNP	ENST00000329687.4	37	c.354G>A	CCDS3365.1																																																																																				0.627	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		T	2934851	C	T	2934851	2	4	220	1	0	0	0	0	0	0	0	1	9528	639	23	2		2	MFSD10	4	2934851	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		2934851	188219425	19	15289											
UGT2A3	79799	broad.mit.edu	37	chr4	69798434	69798434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccccagagaaaacaccAcaataccatcttcccctgaa	15	6	5	15	0	1	3	0	2	1	1	2	4	2	3	6	0	2	0	6	0	5	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:69798434A>G	ENST00000251566.4	-	3	938	c.908T>C	c.(907-909)gTg>gCg	p.V303A	UGT2A3_ENST00000420231.2_Missense_Mutation_p.V14A	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	303					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAAACACCACAATACCATC	0.363																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(907-909)gTg>gCg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							139	140	140					4																	69798434		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798434A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.908T>C	4.37:g.69798434A>G	ENSP00000251566:p.Val303Ala					UGT2A3_uc010ihp.1_Non-coding_Transcript	p.V303A	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	939	-			303					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.908T>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478413	0.44044	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.72051	-0.62;2.64	2.08	2.08	0.27032	.	0.066659	0.64402	D	0.000015	D	0.83995	0.5375	M	0.93638	3.44	0.29646	N	0.844377	D	0.63880	0.993	D	0.64144	0.922	T	0.79249	-0.1881	10	0.87932	D	0	.	7.7361	0.28815	1.0:0.0:0.0:0.0	.	303	Q6UWM9	UD2A3_HUMAN	A	303;14	ENSP00000251566:V303A;ENSP00000440115:V14A	ENSP00000251566:V303A	V	-	2	0	UGT2A3	69833023	0.995000	0.38212	0.779000	0.31741	0.415000	0.31203	7.498000	0.81546	0.948000	0.37687	0.459000	0.35465	GTG		0.363	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69798434	A	G	69798434	3	3	220	1	0	0	0	0	1	0	0	0	16952	159	6	4	691	4	UGT2A3	4	69798434	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08	66863583	69798434	121355842	20	15290											
PRKG2	5593	broad.mit.edu	37	chr4	82125748	82125748	+	Frame_Shift_Del	DEL	C	C	-																															ggaaatttcttacctggagtCttttctgactcttgctttct																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:82125748delC	ENST00000395578.1	-	2	570	c.454delG	c.(454-456)gacfs	p.D152fs	PRKG2_ENST00000418486.2_Frame_Shift_Del_p.D152fs|PRKG2_ENST00000264399.1_Frame_Shift_Del_p.D152fs			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	152					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TACCTGGAGTCTTTTCTGACT	0.428																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(454-456)gacfs		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							166	197	187					4																	82125748		2203	4299	6502	SO:0001589	frameshift_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82125748delC	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.454delG	4.37:g.82125748delC	ENSP00000378945:p.Asp152fs					PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	p.D152fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN			0	467	-			152					B4DMX3|E7EPE6|O00125|O60916	Frame_Shift_Del	DEL	ENST00000395578.1	37	c.454delG	CCDS3589.1																																																																																				0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		-	82125748	C	-	82125748	7	5	220	1	0	1	0	1	0	0	0	0	12523	913	32	0	1906	0	PRKG2	4	82125748	Frame_Shift_Del	DEL	C	TCGA-28-6450-01A-11D-1696-08	12327314	82125748	109028528	21	15291											
FGG	2266	broad.mit.edu	37	chr4	155527975	155527975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtcccaggtactgaaCtgcatgccattatgggatgt	9	13	10	9	0	1	1	1	1	0	0	2	2	2	2	2	2	4	2	2	2	3	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:155527975C>A	ENST00000336098.3	-	8	1049	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	FGG_ENST00000404648.3_Missense_Mutation_p.Q337H|FGG_ENST00000407946.1_Missense_Mutation_p.Q345H|FGG_ENST00000405164.1_Missense_Mutation_p.Q345H	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	337	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTACTGAACTGCATGCCAT	0.473																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1009-1011)caG>caT		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						256	231	240					4																	155527975		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155527975C>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1011G>T	4.37:g.155527975C>A	ENSP00000336829:p.Gln337His					FGG_uc003iog.3_Missense_Mutation_p.Q337H	p.Q337H	NM_021870	NP_068656	P02679	FIBG_HUMAN			7	1152	-	all_hematologic(180;0.215)	Renal(120;0.0458)	337			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.1011G>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	9.921	1.212172	0.22289	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31	5.79	3.08	0.35506	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.110120	0.64402	N	0.000004	D	0.95570	0.8560	M	0.82517	2.595	0.58432	D	0.999991	B;B;B;B;B	0.26577	0.148;0.132;0.153;0.153;0.147	B;B;B;B;B	0.29353	0.027;0.061;0.069;0.101;0.083	D	0.91195	0.4987	10	0.15499	T	0.54	.	8.9109	0.35552	0.0:0.6416:0.2288:0.1296	.	234;345;337;345;337	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	H	337;345;337;345	ENSP00000384860:Q337H;ENSP00000384101:Q345H;ENSP00000336829:Q337H;ENSP00000384552:Q345H	ENSP00000336829:Q337H	Q	-	3	2	FGG	155747425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.611000	0.36879	0.749000	0.32854	0.650000	0.86243	CAG		0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		A	155527975	C	A	155527975	3	1	220	1	0	0	0	0	1	0	0	0	5870	564	20	5	377	5	FGG	4	155527975	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	73402227	155527975	35626301	22	15292											
FBXO8	26269	broad.mit.edu	37	chr4	175160248	175160248	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactctccacgctcttcaggGgcatggatatgacgaaaaaa	13	9	9	10	2	3	1	1	1	2	0	4	3	3	2	1	3	1	2	1	3	5	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:175160248G>C	ENST00000393674.2	-	5	1531	c.669C>G	c.(667-669)gcC>gcG	p.A223A	FBXO8_ENST00000503293.1_Silent_p.A182A	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	223	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCTCTTCAGGGGCATGGATAT	0.398																																						uc003itp.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(667-669)gcC>gcG		Homo sapiens F-box protein 8 (FBXO8), mRNA.							79	81	80					4																	175160248		2203	4299	6502	SO:0001819	synonymous_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175160248G>C	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.669C>G	4.37:g.175160248G>C						FBXO8_uc003itq.3_Silent_p.A182A	p.A223A	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	4	1519	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	223			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.669C>G	CCDS3820.1																																																																																				0.398	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		C	175160248	G	C	175160248	2	2	220	1	0	0	0	0	0	0	0	1	5761	1219	43	5		5	FBXO8	4	175160248	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	19632273	175160248	15994028	23	15293											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161999	161999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcgccgtggtcagccaGgctgagtgcagggagggaga	8	5	19	9	2	1	3	1	2	0	1	1	5	1	4	2	4	3	2	2	4	0	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:161999G>T	ENST00000283426.6	+	10	1571	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	507							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGTCAGCCAGGCTGAGTGCA	0.627																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1519-1521)caG>caT		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							84	73	77					5																	161999		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161999G>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1521G>T	5.37:g.161999G>T	ENSP00000283426:p.Gln507His						p.Q507H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	9	1571	+			507						Missense_Mutation	SNP	ENST00000283426.6	37	c.1521G>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303005	0.23736	.	.	ENSG00000153404	ENST00000283426	D	0.92965	-3.14	2.59	0.58	0.17402	.	.	.	.	.	D	0.83156	0.5193	N	0.22421	0.69	0.09310	N	0.999993	B	0.13145	0.007	B	0.06405	0.002	T	0.69702	-0.5074	9	0.35671	T	0.21	.	5.5008	0.16827	0.3345:0.0:0.6655:0.0	.	507	Q96PX9	PKH4B_HUMAN	H	507	ENSP00000283426:Q507H	ENSP00000283426:Q507H	Q	+	3	2	PLEKHG4B	214999	0.389000	0.25205	0.004000	0.12327	0.140000	0.21249	0.388000	0.20735	0.223000	0.20920	0.460000	0.39030	CAG		0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	161999	G	T	161999	3	4	220	1	0	0	0	0	1	0	0	0	12072	991	35	5	1559	5	PLEKHG4B	5	161999	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		161999	180753261	24	15294											
HCN1	348980	broad.mit.edu	37	chr5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtgacagctgggaggCggtgggggaggcatagtgga	9	6	21	5	1	0	2	0	2	0	0	0	5	0	5	0	7	1	2	0	7	1	1	rs141383188		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:45262526C>T	ENST00000303230.4	-	8	2227	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	724					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		14291	0		0	False		,,,				2504	0					uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2170-2172)Gcc>Acc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.		C	THR/ALA	6,4400	9.9+/-24.2	0,6,2197	31	32	32		2170	4.7	0	5	dbSNP_134	32	0,8600		0,0,4300	yes	missense	HCN1	NM_021072.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging	724/891	45262526	6,13000	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262526C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2170G>A	5.37:g.45262526C>T	ENSP00000307342:p.Ala724Thr						p.A724T	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2195	-			724						Missense_Mutation	SNP	ENST00000303230.4	37	c.2170G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976322	0.53720	0.001362	0.0	ENSG00000164588	ENST00000303230	T	0.76578	-1.03	5.52	4.65	0.58169	.	0.000000	0.64402	D	0.000007	T	0.72661	0.3488	L	0.50333	1.59	0.47245	D	0.999362	B	0.13594	0.008	B	0.06405	0.002	T	0.68618	-0.5361	10	0.44086	T	0.13	.	14.4319	0.67257	0.0:0.9293:0.0:0.0707	.	724	O60741	HCN1_HUMAN	T	724	ENSP00000307342:A724T	ENSP00000307342:A724T	A	-	1	0	HCN1	45298283	0.995000	0.38212	0.040000	0.18447	0.974000	0.67602	3.307000	0.51888	1.332000	0.45431	0.655000	0.94253	GCC		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262526	C	T	45262526	3	4	220	1	0	0	0	0	1	0	0	0	6996	768	27	1	506	1	HCN1	5	45262526	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	45100527	45262526	135652734	25	15295											
PCDHA7	56141	broad.mit.edu	37	chr5	140214002	140214002	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatacgacccagggggcCgacatctactgctgtttatt	9	11	11	10	2	1	0	0	0	1	0	1	3	1	1	2	3	3	2	2	3	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140214002C>T	ENST00000525929.1	+	1	34	c.34C>T	c.(34-36)Cga>Tga	p.R12*	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.R12*|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	12					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGGGGCCGACATCTACT	0.468																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(34-36)Cga>Tga		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							59	72	68					5																	140214002		2203	4300	6503	SO:0001587	stop_gained	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140214002C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.34C>T	5.37:g.140214002C>T	ENSP00000436426:p.Arg12*					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Nonsense_Mutation_p.R12*	p.R12*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	34	+			0					O75282	Nonsense_Mutation	SNP	ENST00000525929.1	37	c.34C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324749	0.41197	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	.	.	.	3.68	-0.773	0.10995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2406	0.54540	0.7427:0.2573:0.0:0.0	.	.	.	.	X	12	.	ENSP00000367365:R12X	R	+	1	2	PCDHA7	140194186	0.002000	0.14202	0.000000	0.03702	0.096000	0.18686	-0.724000	0.04947	-0.315000	0.08703	0.455000	0.32223	CGA		0.468	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		T	140214002	C	T	140214002	4	4	220	1	0	0	0	0	0	1	0	0	11529	644	23	2	36	2	PCDHA7	5	140214002	Nonsense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	94951476	140214002	40701258	26	15296											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751755	140751755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtggacgcagactcGggatacaacgcctggctgtc	7	7	16	11	4	0	1	0	0	0	1	2	3	0	3	1	5	2	2	1	5	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140751755G>A	ENST00000576222.1	+	1	1925	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGACTCGGGATACAACG	0.672																																						uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1792-1794)tcG>tcA		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							60	69	66					5																	140751755		2203	4300	6503	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751755G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1794G>A	5.37:g.140751755G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S598S|PCDHGC5_uc011dau.2_5'Flank	p.S598S	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1794	+			599			Cadherin 6.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1794G>A	CCDS58980.1																																																																																				0.672	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140751755	G	A	140751755	2	1	220	1	0	0	0	0	0	0	0	1	11564	1103	39	2		2	PCDHGB3	5	140751755	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	537753	140751755	40163505	27	15297											
DRD1	1812	broad.mit.edu	37	chr5	174869045	174869045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctatggcattattcgtcGcagggcaaagtctgtagcat	9	13	10	9	2	2	0	0	0	2	0	5	0	2	0	0	2	1	5	0	2	4	4	rs144813919	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:174869045G>A	ENST00000393752.2	-	2	2050	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	353					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATTATTCGTCGCAGGGCAAAG	0.478													G|||	3	0.000599042	0	0	5008	,	,		21472	0		0.001	False		,,,				2504	0.002					uc003mcz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1057-1059)gCg>gTg		Homo sapiens dopamine receptor D1 (DRD1), mRNA.	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	G	VAL/ALA	0,4406		0,0,2203	114	111	112		1058	3.6	0	5	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DRD1	NM_000794.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	353/447	174869045	2,13004	2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869045G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.1058C>T	5.37:g.174869045G>A	ENSP00000377353:p.Ala353Val					DRD1_uc021yia.1_Missense_Mutation_p.A353V	p.A353V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2003	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	353					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.1058C>T	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	1.497	-0.553137	0.03996	0.0	2.33E-4	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.36878	1.23	5.41	3.61	0.41365	.	0.591848	0.16475	N	0.212805	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.21930	-1.0231	10	0.12430	T	0.62	.	8.6375	0.33957	0.2371:0.0:0.7629:0.0	.	353	P21728	DRD1_HUMAN	V	353	ENSP00000377353:A353V	ENSP00000327652:A353V	A	-	2	0	DRD1	174801651	0.022000	0.18835	0.003000	0.11579	0.161000	0.22273	2.193000	0.42658	1.429000	0.47314	-0.254000	0.11334	GCG		0.478	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		A	174869045	G	A	174869045	3	1	220	1	0	0	0	0	1	0	0	0	4756	1087	38	1	286	1	DRD1	5	174869045	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	34117290	174869045	6046215	28	15298											
NKAPL	222698	broad.mit.edu	37	chr6	28227813	28227813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgatgatgataaaaagAgagttaaagccaagaagaaa	21	7	9	4	0	1	6	0	3	1	3	1	7	1	6	1	0	1	1	1	0	8	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:28227813A>G	ENST00000343684.3	+	1	716	c.664A>G	c.(664-666)Aga>Gga	p.R222G	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	222	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGATAAAAAGAGAGTTAAAGC	0.313																																						uc003nkt.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(664-666)Aga>Gga		Homo sapiens NFKB activating protein-like (NKAPL), mRNA.							26	31	29					6																	28227813		2180	4294	6474	SO:0001583	missense	222698							g.chr6:28227813A>G	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.664A>G	6.37:g.28227813A>G	ENSP00000345716:p.Arg222Gly					ZKSCAN4_uc011dlb.1_5'Flank	p.R222G	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			0	716	+			222			Lys-rich.		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.664A>G	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	A	6.844	0.524977	0.13066	.	.	ENSG00000189134	ENST00000343684	T	0.14144	2.53	4.21	4.21	0.49690	.	0.654924	0.15583	N	0.254796	T	0.05547	0.0146	L	0.47716	1.5	0.24190	N	0.995552	P	0.44877	0.845	B	0.41860	0.368	T	0.25779	-1.0122	10	0.22109	T	0.4	-10.6372	9.9811	0.41813	1.0:0.0:0.0:0.0	.	222	Q5M9Q1	NKAPL_HUMAN	G	222	ENSP00000345716:R222G	ENSP00000345716:R222G	R	+	1	2	NKAPL	28335792	0.990000	0.36364	0.986000	0.45419	0.573000	0.36030	2.733000	0.47360	2.129000	0.65627	0.533000	0.62120	AGA		0.313	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			G	28227813	A	G	28227813	3	3	220	1	0	0	0	0	1	0	0	0	10440	296	11	4	666	4	NKAPL	6	28227813	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08		28227813	142887254	29	15299											
PPP1R10	5514	broad.mit.edu	37	chr6	30573989	30573989	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcattcttcttcacAggcaccaaggatggtgtctc	7	12	11	11	0	4	0	1	0	3	0	5	1	4	1	1	4	1	3	1	4	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:30573989A>G	ENST00000376511.2	-	9	1218	c.666T>C	c.(664-666)ccT>ccC	p.P222P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	222	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTTCTTCACAGGCACCAAGG	0.527																																						uc003nqn.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(664-666)ccT>ccC		Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.							115	101	106					6																	30573989		1511	2709	4220	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30573989A>G	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.666T>C	6.37:g.30573989A>G						PPP1R10_uc010jsc.1_5'UTR	p.P222P	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			8	1218	-			222			Interaction with TOX4 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.666T>C	CCDS4681.1																																																																																				0.527	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		G	30573989	A	G	30573989	2	3	220	1	0	0	0	0	0	0	0	1	12352	175	7	4		4	PPP1R10	6	30573989	Silent	SNP	A	TCGA-28-6450-01A-11D-1696-08	2346176	30573989	140541078	30	15300											
COL11A2	1302	broad.mit.edu	37	chr6	33141808	33141808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggggccccgttctccccGaggccctgacttccccgaca	4	7	11	19	4	1	1	0	1	1	0	3	3	2	1	7	3	0	1	7	3	0	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:33141808G>A	ENST00000374708.4	-	31	2509	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	COL11A2_ENST00000395197.1_Missense_Mutation_p.R777W|COL11A2_ENST00000374712.1_Missense_Mutation_p.R756W|COL11A2_ENST00000341947.2_Missense_Mutation_p.R837W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R730W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R811W|COL11A2_ENST00000357486.1_Missense_Mutation_p.R816W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.R790W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	837	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTTCTCCCCGAGGCCCTGAC	0.612																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0		p.P836S(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2509-2511)Cgg>Tgg		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							55	56	56					6																	33141808		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141808G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2251C>T	6.37:g.33141808G>A	ENSP00000363840:p.Arg751Trp					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	p.R837W	NM_080680	NP_542411	P13942	COBA2_HUMAN			32	2737	-			837			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2509C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055860	0.76074	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.87269	2.87	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.965;0.944;0.985	T	0.72880	-0.4158	10	0.87932	D	0	.	9.7741	0.40607	0.0:0.0:0.7944:0.2056	.	730;751;837	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	751;837;816;811;790;777;756;730	ENSP00000363840:R751W;ENSP00000339915:R837W;ENSP00000350079:R816W;ENSP00000363846:R811W;ENSP00000363845:R790W;ENSP00000378623:R777W;ENSP00000363844:R756W;ENSP00000355123:R730W	ENSP00000339915:R837W	R	-	1	2	COL11A2	33249786	0.990000	0.36364	1.000000	0.80357	0.964000	0.63967	1.278000	0.33179	2.306000	0.77630	0.448000	0.29417	CGG		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33141808	G	A	33141808	3	1	220	1	0	0	0	0	1	0	0	0	3668	1057	37	2	2837	2	COL11A2	6	33141808	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	2567819	33141808	137973259	31	15301											
NOX3	50508	broad.mit.edu	37	chr6	155743956	155743957	+	Missense_Mutation	DNP	TC	TC	AA																															tgggtagtgaaatacatctgTcagggcagttccaaagggcc																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:155743956_155743957TC>AA	ENST00000159060.2	-	10	1281_1282	c.1179_1180GA>TT	c.(1177-1182)ctGAca>ctTTca	p.T394S		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	394	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATACATCTGTCAGGGCAGTTC	0.52																																						uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1177-1182)ctgaca>ctTTca		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.																																				SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743956_155743957TC>AA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1179_1180delinsAA	6.37:g.155743956_155743957delinsAA	ENSP00000159060:p.Thr394Ser						p.T394S	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1282_1283	-		Breast(66;0.0183)	394			FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	DNP	ENST00000159060.2	37	c.1179_1180GA>TT	CCDS5250.1																																																																																				0.52	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			AA	155743957	TC	AA	155743956	3	1	220	1	0	0	0	0	1	0	0	0	10557	1667	58	5	542	5	NOX3	6	155743956	Missense_Mutation	DNP	TC	TCGA-28-6450-01A-11D-1696-08	122602148	155743956	15371111	32	15302											
PPP1R9A	55607	broad.mit.edu	37	chr7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactggaacaggagaggCgccagagagagctgctggaa	14	3	16	8	1	0	4	0	0	0	4	0	8	0	6	1	4	3	2	1	4	2	0	rs200450439		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:94827740C>T	ENST00000433881.1	+	6	2366	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R612C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R612C|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R612C			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	612	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)																												uc003unp.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1834-1836)Cgc>Tgc		Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	135	136	136		1834,1834,1834,1834,1834	4.7	1	7		136	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	612/1375,612/1297,612/1254,612/1091,612/1099	94827740	2,13004	2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94827740C>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1834C>T	7.37:g.94827740C>T	ENSP00000398870:p.Arg612Cys	HNSCC(28;0.073)				PPP1R9A_uc010lfj.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.2_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.2_Missense_Mutation_p.R612C	p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	2116	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		612			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1834C>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812555	0.50527	0.0	2.33E-4	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15952	2.38;2.41;2.42;2.41;2.42;2.42	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.20530	0.585	0.80722	D	1	B;P;P;D;B	0.89917	0.253;0.744;0.744;1.0;0.362	B;B;B;D;B	0.73708	0.049;0.161;0.106;0.981;0.06	T	0.11717	-1.0576	10	0.59425	D	0.04	.	16.4256	0.83813	0.1322:0.8678:0.0:0.0	.	612;612;612;612;612	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	C	612	ENSP00000405514:R612C;ENSP00000344524:R612C;ENSP00000411342:R612C;ENSP00000398870:R612C;ENSP00000289495:R612C;ENSP00000402893:R612C	ENSP00000289495:R612C	R	+	1	0	PPP1R9A	94665676	0.994000	0.37717	1.000000	0.80357	0.143000	0.21401	1.406000	0.34646	1.491000	0.48482	0.591000	0.81541	CGC		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		T	94827740	C	T	94827740	3	4	220	1	0	0	0	0	1	0	0	0	12378	768	27	1	1852	1	PPP1R9A	7	94827740	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		94827740	64310923	33	15303											
EPHB6	2051	broad.mit.edu	37	chr7	142561895	142561895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactccacttctctgtgcggGcatgctccagcctgggtgtg	4	11	13	13	1	1	0	0	0	1	0	4	1	3	0	3	2	3	2	3	2	0	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:142561895G>A	ENST00000392957.2	+	7	1124	c.337G>A	c.(337-339)Gca>Aca	p.A113T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A113T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	113	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTCTGTGCGGGCATGCTCCAG	0.657																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(337-339)Gca>Aca		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							70	80	76					7																	142561895		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561895G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.337G>A	7.37:g.142561895G>A	ENSP00000376684:p.Ala113Thr					EPHB6_uc011ksu.2_Missense_Mutation_p.A113T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	p.A113T	NM_004445	NP_004436	O15197	EPHB6_HUMAN			6	1124	+	Melanoma(164;0.059)		113					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.337G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142638	0.77888	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03663	3.85;3.85	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.44902	D	0.000409	T	0.14313	0.0346	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.00069	-1.2136	10	0.87932	D	0	.	18.6073	0.91271	0.0:0.0:1.0:0.0	.	113	O15197	EPHB6_HUMAN	T	113	ENSP00000376684:A113T;ENSP00000410789:A113T	ENSP00000376684:A113T	A	+	1	0	EPHB6	142272017	1.000000	0.71417	0.946000	0.38457	0.141000	0.21300	8.004000	0.88535	2.640000	0.89533	0.655000	0.94253	GCA		0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142561895	G	A	142561895	3	1	220	1	0	0	0	0	1	0	0	0	5178	1203	42	3	347	3	EPHB6	7	142561895	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	47734155	142561895	16576768	34	15304											
IDO1	3620	broad.mit.edu	37	chr8	39781104	39781104	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtttcaccaaatccaCggcaagtgttgtgtgcagtg	10	11	11	9	1	1	0	1	0	0	0	2	0	2	0	2	1	1	4	2	1	3	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr8:39781104C>T	ENST00000518237.1	+	7	1293	c.654C>T	c.(652-654)caC>caT	p.H218H	IDO1_ENST00000522495.1_Splice_Site_p.H218H|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	218					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	ACCAAATCCACGGCAAGTGTT	0.433																																						uc003xnm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.e7+1		Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	L-Tryptophan(DB00150)						69	70	69					8																	39781104		1912	4145	6057	SO:0001630	splice_region_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39781104C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.655+1C>T	8.37:g.39781104C>T							p.D219_splice	NM_002164	NP_002155	P14902	I23O1_HUMAN			7	769	+			219					Q540B4	Silent	SNP	ENST00000518237.1	37	c.655_splice	CCDS47847.1																																																																																				0.433	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	Silent	T	39781104	C	T	39781104	5	4	220	1	0	0	0	0	0	0	1	0	7501	550	19	1	680	1	IDO1	8	39781104	Splice_Site	SNP	C	TCGA-28-6450-01A-11D-1696-08		39781104	106582918	35	15305											
TAF1L	138474	broad.mit.edu	37	chr9	32632187	32632187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagctgagagctggtttTcttgttctgcaacatgttct	7	16	10	8	0	3	2	0	2	3	1	3	3	3	2	0	1	4	6	0	1	1	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:32632187T>C	ENST00000242310.4	-	1	3480	c.3391A>G	c.(3391-3393)Aaa>Gaa	p.K1131E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1131					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTGGTTTTCTTGTTCTGC	0.468																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3391-3393)Aaa>Gaa		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							210	168	182					9																	32632187		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632187T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3391A>G	9.37:g.32632187T>C	ENSP00000418379:p.Lys1131Glu					AX747113_uc003zrh.1_5'Flank	p.K1131E	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	3481	-			1131					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3391A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808921	0.70797	.	.	ENSG00000122728	ENST00000242310	T	0.18174	2.23	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.48218	1.51	0.54753	D	0.999983	D	0.59357	0.985	P	0.54431	0.752	T	0.02596	-1.1136	10	0.72032	D	0.01	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1131	Q8IZX4	TAF1L_HUMAN	E	1131	ENSP00000418379:K1131E	ENSP00000418379:K1131E	K	-	1	0	TAF1L	32622187	1.000000	0.71417	0.985000	0.45067	0.667000	0.39255	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	AAA		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			C	32632187	T	C	32632187	3	2	220	1	0	0	0	0	1	0	0	0	15520	1792	62	4	2093	4	TAF1L	9	32632187	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		32632187	108581244	36	15306											
GPR107	57720	broad.mit.edu	37	chr9	132842036	132842036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcaggcaaccagaccCagaagacacaaggtaaaccg	16	3	9	13	1	1	3	1	0	0	3	1	3	1	3	3	2	3	3	3	2	5	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:132842036C>G	ENST00000372406.1	+	5	1021	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	GPR107_ENST00000347136.6_Missense_Mutation_p.Q172E|GPR107_ENST00000372410.3_Missense_Mutation_p.Q172E	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	172						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CAACCAGACCCAGAAGACACA	0.433																																						uc004bze.2																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(514-516)Cag>Gag		Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.							50	45	46					9																	132842036		2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132842036C>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.514C>G	9.37:g.132842036C>G	ENSP00000361483:p.Gln172Glu					GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	p.Q172E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			4	741	+		Ovarian(14;0.000531)	172					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.514C>G	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	C	4.513	0.095171	0.08681	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	D;D;D	0.96265	-3.96;-3.96;-3.96	5.12	3.21	0.36854	.	1.158040	0.06168	N	0.677165	D	0.91246	0.7241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.75531	-0.3285	10	0.02654	T	1	-1.7038	12.0613	0.53564	0.0:0.6236:0.3763:0.0	.	172;172;172	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	E	172	ENSP00000361483:Q172E;ENSP00000336988:Q172E;ENSP00000361487:Q172E	ENSP00000336988:Q172E	Q	+	1	0	GPR107	131881857	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.844000	0.27654	0.594000	0.29761	0.563000	0.77884	CAG		0.433	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			G	132842036	C	G	132842036	3	3	220	1	0	0	0	0	1	0	0	0	6623	595	21	5	532	5	GPR107	9	132842036	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	100209849	132842036	8371395	37	15307											
CUBN	8029	broad.mit.edu	37	chr10	16873370	16873370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggcagcagagttccaCagtacttgcccagtaatggt	9	11	12	9	0	0	1	0	0	0	1	1	1	1	1	2	3	3	6	2	3	2	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:16873370C>T	ENST00000377833.4	-	65	10474	c.10409G>A	c.(10408-10410)tGt>tAt	p.C3470Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3470	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGTTCCACAGTACTTGCC	0.368																																						uc001ioo.3																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10408-10410)tGt>tAt		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						136	125	129					10																	16873370		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873370C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10409G>A	10.37:g.16873370C>T	ENSP00000367064:p.Cys3470Tyr						p.C3470Y	NM_001081	NP_001072	O60494	CUBN_HUMAN			64	10461	-			3470			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10409G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158366	0.78114	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.49432	0.78	4.6	4.6	0.57074	CUB (5);	0.147770	0.31747	N	0.007130	T	0.76364	0.3977	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83565	0.0109	10	0.87932	D	0	.	17.5839	0.87976	0.0:1.0:0.0:0.0	.	3470	O60494	CUBN_HUMAN	Y	3470;311	ENSP00000367064:C3470Y	ENSP00000367064:C3470Y	C	-	2	0	CUBN	16913376	1.000000	0.71417	0.938000	0.37757	0.966000	0.64601	7.034000	0.76511	2.378000	0.81104	0.561000	0.74099	TGT		0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16873370	C	T	16873370	3	4	220	1	0	0	0	0	1	0	0	0	4051	478	17	3	474	3	CUBN	10	16873370	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		16873370	118661377	38	15308											
ARMC3	219681	broad.mit.edu	37	chr10	23287264	23287264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttctgcaaacacagtcGtgcagagcaaagctgctctc	10	9	10	12	2	2	1	0	0	2	1	4	1	2	1	0	0	7	6	0	0	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:23287264G>A	ENST00000298032.5	+	11	1447	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	ARMC3_ENST00000409049.3_Missense_Mutation_p.V455M|ARMC3_ENST00000376528.4_Missense_Mutation_p.V192M|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.V455M	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	455						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACACAGTCGTGCAGAGCAA	0.498																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1363-1365)Gtg>Atg		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							62	56	59					10																	23287264		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23287264G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1363G>A	10.37:g.23287264G>A	ENSP00000298032:p.Val455Met					ARMC3_uc010qcv.2_Missense_Mutation_p.V455M|ARMC3_uc010qcw.2_Missense_Mutation_p.V192M	p.V455M	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			10	1446	+			455					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1363G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154356	0.78114	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.73575	-0.76;-0.76;0.77;0.26	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.137557	0.49305	D	0.000154	D	0.87783	0.6264	M	0.82323	2.585	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.974	D	0.89199	0.3556	10	0.87932	D	0	-14.0326	19.2475	0.93908	0.0:0.0:1.0:0.0	.	455;455	Q5W041-4;Q5W041	.;ARMC3_HUMAN	M	455;455;391;455;192	ENSP00000298032:V455M;ENSP00000386943:V455M;ENSP00000387288:V455M;ENSP00000365711:V192M	ENSP00000298032:V455M	V	+	1	0	ARMC3	23327270	1.000000	0.71417	0.950000	0.38849	0.742000	0.42306	6.267000	0.72546	2.548000	0.85928	0.467000	0.42956	GTG		0.498	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		A	23287264	G	A	23287264	3	1	220	1	0	0	0	0	1	0	0	0	952	1145	40	1	1401	1	ARMC3	10	23287264	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	6413894	23287264	112247483	39	15309											
MICAL2	9645	broad.mit.edu	37	chr11	12261088	12261088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatggcgaatcagctgctgGccaagtttgaggagagcact	10	8	13	10	1	1	2	1	1	0	1	1	4	1	2	2	3	3	4	2	3	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr11:12261088G>A	ENST00000256194.4	+	17	2458	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	MICAL2_ENST00000527546.1_Missense_Mutation_p.A724T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A724T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A724T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A724T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	724					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGCTGCTGGCCAAGTTTGA	0.493																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2170-2172)Gcc>Acc		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							132	107	115					11																	12261088		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12261088G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2170G>A	11.37:g.12261088G>A	ENSP00000256194:p.Ala724Thr					MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.3_Missense_Mutation_p.A724T|MICAL2_uc010rci.2_Missense_Mutation_p.A724T|MICAL2_uc001mkb.3_Missense_Mutation_p.A724T|MICAL2_uc001mkc.3_Missense_Mutation_p.A724T|MICAL2_uc001mkd.3_Missense_Mutation_p.A553T|MICAL2_uc010rcj.2_Missense_Mutation_p.A126T|MICAL2_uc001mkf.3_Non-coding_Transcript	p.A724T	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	16	2458	+			724					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2170G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837971	0.91117	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.65178	-0.0;-0.14;-0.0;-0.14;0.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.62723	1.935	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.992;1.0;1.0;0.998;1.0;1.0	P;D;D;D;D;D	0.91635	0.904;0.999;0.998;0.96;0.998;0.994	T	0.75900	-0.3154	10	0.40728	T	0.16	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	257;724;724;724;724;724	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	T	724;257;724;724;724;724	ENSP00000441689:A724T;ENSP00000256194:A724T;ENSP00000433965:A724T;ENSP00000344894:A724T;ENSP00000368932:A724T	ENSP00000256194:A724T	A	+	1	0	MICAL2	12217664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.845000	0.86875	2.557000	0.86248	0.655000	0.94253	GCC		0.493	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12261088	G	A	12261088	3	1	220	1	0	0	0	0	1	0	0	0	9570	1203	42	3	2228	3	MICAL2	11	12261088	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		12261088	122745428	40	15310											
ABCC9	10060	broad.mit.edu	37	chr12	21954093	21954093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaataaccaggtctgccGtcagaatagtgtgtactcga	12	10	9	10	2	3	1	2	0	1	1	4	2	3	1	2	1	3	1	2	1	5	3	rs554811993		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:21954093G>A	ENST00000261200.4	-	38	4534	c.4535C>T	c.(4534-4536)aCg>aTg	p.T1512M		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1512	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGGTCTGCCGTCAGAATAGT	0.383													G|||	1	0.000199681	8e-04	0	5008	,	,		17877	0		0	False		,,,				2504	0					uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4534-4536)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						95	88	91					12																	21954093		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21954093G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.4535C>T	12.37:g.21954093G>A	ENSP00000261200:p.Thr1512Met						p.T1512M	NM_020297	NP_064693	O60706	ABCC9_HUMAN			37	4555	-			1512			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261200.4	37	c.4535C>T	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042422	0.75732	.	.	ENSG00000069431	ENST00000261200	T	0.79247	-1.25	4.88	4.88	0.63580	.	0.224693	0.47093	D	0.000258	T	0.65790	0.2725	N	0.16307	0.4	0.80722	D	1	P;P	0.48998	0.84;0.918	B;B	0.42798	0.398;0.39	T	0.72440	-0.4293	10	0.87932	D	0	-3.1825	13.5393	0.61664	0.0:0.0:0.8443:0.1557	.	1512;83	O60706-2;Q8N9N1	.;.	M	1512	ENSP00000261200:T1512M	ENSP00000261200:T1512M	T	-	2	0	ABCC9	21845360	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.073000	0.71245	2.695000	0.91970	0.650000	0.86243	ACG		0.383	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402228.1	NM_005691		A	21954093	G	A	21954093	3	1	220	1	0	0	0	0	1	0	0	0	59	1145	40	1	118	1	ABCC9	12	21954093	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		21954093	111897802	41	15311											
OR6C75	390323	broad.mit.edu	37	chr12	55758950	55758950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggattgacaagtgaccCacagtggcaggttgtacttt	9	13	11	8	0	1	2	0	2	1	0	1	3	1	3	1	3	1	3	1	3	2	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:55758950C>T	ENST00000343399.3	+	1	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363																																						uc010spk.2																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(55-57)cCa>cTa		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							134	133	133					12																	55758950		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55758950C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.56C>T	12.37:g.55758950C>T	ENSP00000368987:p.Pro19Leu						p.P19L	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			0	56	+			19						Missense_Mutation	SNP	ENST00000343399.3	37	c.56C>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890191	0.33348	.	.	ENSG00000187857	ENST00000343399	T	0.00421	7.46	5.18	4.3	0.51218	.	0.000000	0.40222	U	0.001142	T	0.00440	0.0014	M	0.65975	2.015	0.33558	D	0.59697	B	0.21309	0.054	B	0.23852	0.049	T	0.31916	-0.9926	10	0.72032	D	0.01	.	8.9569	0.35823	0.0:0.7668:0.1505:0.0827	.	19	A6NL08	O6C75_HUMAN	L	19	ENSP00000368987:P19L	ENSP00000368987:P19L	P	+	2	0	OR6C75	54045217	0.000000	0.05858	0.493000	0.27502	0.970000	0.65996	0.273000	0.18662	1.417000	0.47077	0.586000	0.80456	CCA		0.363	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			T	55758950	C	T	55758950	3	4	220	1	0	0	0	0	1	0	0	0	11199	594	21	3	58	3	OR6C75	12	55758950	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	33804857	55758950	78092945	42	15312											
CUX2	23316	broad.mit.edu	37	chr12	111742051	111742051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaggtggaaagtctccGggaacagctggcctctgtca	8	7	16	10	2	3	0	1	0	2	0	4	3	3	3	2	5	2	1	2	5	2	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:111742051G>A	ENST00000261726.6	+	10	945	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	AC002979.1_ENST00000408459.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	264					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAAGTCTCCGGGAACAGCTG	0.652																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(790-792)cGg>cAg		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							41	49	46					12																	111742051		2053	4174	6227	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111742051G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.791G>A	12.37:g.111742051G>A	ENSP00000261726:p.Arg264Gln						p.R264Q	NM_015267	NP_056082	O14529	CUX2_HUMAN			9	945	+			264					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.791G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050764	0.93740	.	.	ENSG00000111249	ENST00000261726	T	0.58506	0.33	4.65	4.65	0.58169	.	0.051786	0.85682	D	0.000000	T	0.69611	0.3130	M	0.69823	2.125	0.40460	D	0.980233	D	0.71674	0.998	P	0.54372	0.75	T	0.74728	-0.3567	10	0.52906	T	0.07	-23.5859	17.8962	0.88888	0.0:0.0:1.0:0.0	.	264	O14529	CUX2_HUMAN	Q	264	ENSP00000261726:R264Q	ENSP00000261726:R264Q	R	+	2	0	CUX2	110226434	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	7.006000	0.76329	2.301000	0.77427	0.460000	0.39030	CGG		0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111742051	G	A	111742051	3	1	220	1	0	0	0	0	1	0	0	0	4065	1116	39	2	829	2	CUX2	12	111742051	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	55983101	111742051	22109844	43	15313											
LCP1	3936	broad.mit.edu	37	chr13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtacaaatgattgactcGagggttaacacccagggagt	12	9	11	9	1	0	2	0	2	0	0	1	4	0	3	2	2	2	2	2	2	3	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr13:46718596G>A	ENST00000398576.2	-	14	1622	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL																																	uc001vaz.4				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1234-1236)Cga>Tga		Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.							132	121	125					13																	46718596		2203	4300	6503	SO:0001587	stop_gained	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46718596G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1234C>T	13.37:g.46718596G>A	ENSP00000381581:p.Arg412*					LCP1_uc010ack.3_5'Flank|LCP1_uc001vay.4_Nonsense_Mutation_p.R9*|LCP1_uc001vba.4_Nonsense_Mutation_p.R412*	p.R412*	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	10	1360	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Nonsense_Mutation	SNP	ENST00000398576.2	37	c.1234C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637788	0.98895	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	.	.	.	5.91	5.06	0.68205	.	0.117460	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5	16.4266	0.83816	0.0:0.1311:0.8689:0.0	.	.	.	.	X	412	.	ENSP00000315757:R412X	R	-	1	2	LCP1	45616597	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.829000	0.69316	1.488000	0.48433	0.555000	0.69702	CGA		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		A	46718596	G	A	46718596	4	1	220	1	0	0	0	0	0	1	0	0	8691	1066	37	2	673	2	LCP1	13	46718596	Nonsense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		46718596	68451282	44	15314											
RGS6	9628	broad.mit.edu	37	chr14	72943451	72943451	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcttgcttcttctcctagtCcgtgtatggcgtgactgaag	5	15	11	10	2	2	2	0	2	2	0	4	2	3	2	2	1	2	3	2	1	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr14:72943451C>G	ENST00000553530.1	+	11	902	c.695C>G	c.(694-696)tCc>tGc	p.S232C	RGS6_ENST00000554782.1_Splice_Site_p.S93C|RGS6_ENST00000407322.4_Splice_Site_p.S232C|RGS6_ENST00000553525.1_Splice_Site_p.S232C|RGS6_ENST00000406236.4_Splice_Site_p.S232C|RGS6_ENST00000404301.2_Splice_Site_p.S232C|RGS6_ENST00000434263.2_Splice_Site_p.S163C|RGS6_ENST00000343854.6_Splice_Site_p.S232C|RGS6_ENST00000402788.2_Splice_Site_p.S232C|RGS6_ENST00000556437.1_Splice_Site_p.S232C|RGS6_ENST00000555571.1_Splice_Site_p.S232C|RGS6_ENST00000355512.6_Splice_Site_p.S232C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	232					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCCTAGTCCGTGTATGGC	0.517																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.4																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.e11-1		Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.							110	94	99					14																	72943451		2203	4300	6503	SO:0001630	splice_region_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72943451C>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.694-1C>G	14.37:g.72943451C>G						RGS6_uc021rvv.1_Splice_Site_p.S197_splice|RGS6_uc010ttn.2_Splice_Site_p.S232_splice|RGS6_uc021rvw.1_Splice_Site_p.S232_splice|RGS6_uc021rvx.1_Splice_Site_p.S232_splice|RGS6_uc021rvy.1_Splice_Site_p.S232_splice|RGS6_uc021rvz.1_Splice_Site_p.S232_splice|RGS6_uc001xmy.4_Splice_Site_p.S232_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.S232_splice|RGS6_uc021rwa.1_Splice_Site_p.S232_splice|RGS6_uc021rwb.1_Splice_Site_p.S232_splice|RGS6_uc010ttp.1_Splice_Site_p.S163_splice|RGS6_uc021rwc.1_Splice_Site_p.S93_splice	p.S232_splice	NM_001204423	NP_001191352	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	11	1217	+			232					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.694_splice	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553363	0.65425	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.56;1.42;1.42;1.56;1.43;1.57;1.57;1.56;1.42;1.45;1.52;1.57	5.41	5.41	0.78517	.	0.118380	0.64402	D	0.000011	T	0.47229	0.1434	L	0.43152	1.355	0.80722	D	1	D;B;B;B	0.67145	0.996;0.047;0.027;0.011	P;B;B;B	0.60886	0.88;0.049;0.028;0.022	T	0.37526	-0.9702	10	0.59425	D	0.04	0.018	19.5424	0.95280	0.0:1.0:0.0:0.0	.	163;232;237;232	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	C	232;232;232;232;232;232;232;232;232;232;204;163;93;93	ENSP00000451030:S232C;ENSP00000450936:S232C;ENSP00000452331:S232C;ENSP00000451855:S232C;ENSP00000347699:S232C;ENSP00000385243:S232C;ENSP00000384218:S232C;ENSP00000384612:S232C;ENSP00000383953:S232C;ENSP00000341199:S232C;ENSP00000412144:S163C;ENSP00000451912:S93C	ENSP00000341199:S232C	S	+	2	0	RGS6	72013204	1.000000	0.71417	0.968000	0.41197	0.273000	0.26683	7.320000	0.79064	2.706000	0.92434	0.561000	0.74099	TCC		0.517	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		Missense_Mutation	G	72943451	C	G	72943451	5	3	220	1	0	0	0	0	0	0	1	0	13309	869	30	5	733	5	RGS6	14	72943451	Splice_Site	SNP	C	TCGA-28-6450-01A-11D-1696-08		72943451	34406089	45	15315											
CCPG1	9236	broad.mit.edu	37	chr15	55652658	55652658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgctgctgttcgaaggttAgcttccgttccagctcagtg	7	12	11	11	3	1	0	1	0	0	0	4	1	3	0	2	1	4	7	2	1	3	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:55652658A>G	ENST00000310958.6	-	8	1611	c.1313T>C	c.(1312-1314)cTa>cCa	p.L438P	CCPG1_ENST00000569205.1_Missense_Mutation_p.L438P|CCPG1_ENST00000442196.3_Missense_Mutation_p.L438P|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	438					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCGAAGGTTAGCTTCCGTTC	0.413																																						uc010bfk.2																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1312-1314)cTa>cCa		Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.							226	209	214					15																	55652658		1875	4124	5999	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652658A>G	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1313T>C	15.37:g.55652658A>G	ENSP00000311656:p.Leu438Pro					CCPG1_uc002acy.3_Missense_Mutation_p.L438P|CCPG1_uc002acu.2_Missense_Mutation_p.L294P|CCPG1_uc002acz.2_Missense_Mutation_p.L438P|CCPG1_uc002acw.2_Missense_Mutation_p.L163P|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Missense_Mutation_p.L438P|CCPG1_uc021smu.1_Missense_Mutation_p.L58P	p.L438P	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	1612	-			438					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1313T>C	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260593	0.59431	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.41400	1.0;1.0	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.66368	-0.5941	10	0.72032	D	0.01	.	15.5002	0.75691	1.0:0.0:0.0:0.0	.	438;438;438;294	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	P	438	ENSP00000311656:L438P;ENSP00000403400:L438P	ENSP00000311656:L438P	L	-	2	0	DYX1C1	53439950	1.000000	0.71417	0.695000	0.30226	0.717000	0.41224	8.798000	0.91888	2.302000	0.77476	0.533000	0.62120	CTA		0.413	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		G	55652658	A	G	55652658	3	3	220	1	0	0	0	0	1	0	0	0	2938	420	15	4	964	4	CCPG1	15	55652658	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08		55652658	46878734	46	15316											
POLG	5428	broad.mit.edu	37	chr15	89876416	89876416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagggcccgctcctcGgggatggccacgggtacggc	7	4	15	15	4	0	0	0	0	0	0	2	1	1	1	4	6	2	2	4	6	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:89876416G>A	ENST00000268124.5	-	2	903	c.570C>T	c.(568-570)ccC>ccT	p.P190P	POLG_ENST00000525806.1_5'UTR|POLG_ENST00000442287.2_Silent_p.P190P|RP11-217B1.2_ENST00000562356.1_RNA|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	190					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCCGCTCCTCGGGGATGGCCA	0.711								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(568-570)ccC>ccT	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.							20	18	19					15																	89876416		2198	4295	6493	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876416G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.570C>T	15.37:g.89876416G>A						POLG_uc002bnr.4_Silent_p.P190P|TRNA_Arg_uc021sue.1_5'Flank	p.P190P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		1	852	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		190					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.570C>T	CCDS10350.1																																																																																				0.711	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		A	89876416	G	A	89876416	2	1	220	1	0	0	0	0	0	0	0	1	12200	1103	39	2		2	POLG	15	89876416	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	34223758	89876416	12654976	47	15317											
IFT140	9742	broad.mit.edu	37	chr16	1574572	1574572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgcacaggcggatggcaTtcttgaaggcctgtgcccgg	6	9	14	12	2	1	1	0	1	1	0	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:1574572T>A	ENST00000426508.2	-	24	3485	c.3122A>T	c.(3121-3123)aAt>aTt	p.N1041I	IFT140_ENST00000361339.5_Missense_Mutation_p.N235I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1041					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCGGATGGCATTCTTGAAGGC	0.652																																						uc002cmb.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3121-3123)aAt>aTt		Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.							33	38	36					16																	1574572		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1574572T>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3122A>T	16.37:g.1574572T>A	ENSP00000406012:p.Asn1041Ile					IFT140_uc002clz.3_Missense_Mutation_p.N654I	p.N1041I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			23	3484	-		Hepatocellular(780;0.219)	1041					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3122A>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818752	0.90790	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.63255	-0.03;0.59	5.27	5.27	0.74061	.	0.106321	0.64402	D	0.000007	T	0.76521	0.3999	M	0.85710	2.77	0.80722	D	1	P;P	0.43788	0.722;0.817	P;P	0.53360	0.461;0.724	T	0.78173	-0.2307	10	0.40728	T	0.16	.	15.2393	0.73455	0.0:0.0:0.0:1.0	.	1041;728	Q96RY7;B4DR58	IF140_HUMAN;.	I	1041;235;1041	ENSP00000354895:N235I;ENSP00000406012:N1041I	ENSP00000354895:N235I	N	-	2	0	IFT140	1514573	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.887000	0.87295	2.015000	0.59207	0.454000	0.30748	AAT		0.652	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1574572	T	A	1574572	3	1	220	1	0	0	0	0	1	0	0	0	7556	1493	52	5	1298	5	IFT140	16	1574572	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		1574572	88780181	48	15318											
ZNF768	79724	broad.mit.edu	37	chr16	30535896	30535897	+	Missense_Mutation	DNP	AA	AA	GC																															tgaggtcggagctctgggagAaggcctttccgcagtcatcg																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30535896_30535897AA>GC	ENST00000380412.5	-	2	1739_1740	c.1564_1565TT>GC	c.(1564-1566)TTc>GCc	p.F522A	ZNF768_ENST00000562803.1_Missense_Mutation_p.F491A	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	522					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGGAGAAGGCCTTTCCG	0.678																																						uc002dyk.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1564-1566)ttc>GCc		Homo sapiens zinc finger protein 768 (ZNF768), mRNA.																																				SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30535896_30535897AA>GC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1564_1565delinsGC	16.37:g.30535896_30535897delinsGC	ENSP00000369777:p.Phe522Ala					ZNF768_uc010vex.2_Missense_Mutation_p.F491A|ZNF768_uc010vew.2_Missense_Mutation_p.F491A	p.F522A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			1	1740_1741	-			522					Q569L7|Q96CX4	Missense_Mutation	DNP	ENST00000380412.5	37	c.1564_1565TT>GC	CCDS10681.2																																																																																				0.678	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		GC	30535897	AA	GC	30535896	3	3	220	1	0	0	0	0	1	0	0	0	18138	246	9	4	61	4	ZNF768	16	30535896	Missense_Mutation	DNP	AA	TCGA-28-6450-01A-11D-1696-08	28961324	30535896	59818857	49	15319											
ZNF629	23361	broad.mit.edu	37	chr16	30795519	30795519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgggtctcccatgatgaTctcctccccagaactttcct	7	11	7	16	1	2	3	0	2	2	1	6	3	4	3	6	1	2	0	6	1	1	1	rs552491350		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30795519T>G	ENST00000262525.4	-	3	337	c.130A>C	c.(130-132)Atc>Ctc	p.I44L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCATGATGATCTCCTCCCCA	0.577																																						uc002dzs.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(130-132)Atc>Ctc		Homo sapiens zinc finger protein 629 (ZNF629), mRNA.							32	31	31					16																	30795519		1858	4090	5948	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795519T>G	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.130A>C	16.37:g.30795519T>G	ENSP00000262525:p.Ile44Leu						p.I44L	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		2	338	-			44					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.130A>C	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438077	0.43326	.	.	ENSG00000102870	ENST00000262525	T	0.08370	3.1	4.94	-4.42	0.03579	.	0.718167	0.11997	N	0.509183	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47058	-0.9146	10	0.11485	T	0.65	-9.4593	7.2102	0.25929	0.0:0.4357:0.2175:0.3468	.	44	Q9UEG4	ZN629_HUMAN	L	44	ENSP00000262525:I44L	ENSP00000262525:I44L	I	-	1	0	ZNF629	30703020	0.000000	0.05858	0.994000	0.49952	0.996000	0.88848	-3.466000	0.00461	-0.319000	0.08652	0.533000	0.62120	ATC		0.577	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		G	30795519	T	G	30795519	3	3	220	1	0	0	0	0	1	0	0	0	18050	1435	50	5	2483	5	ZNF629	16	30795519	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	259623	30795519	59559234	50	15320											
PKD1L2	114780	broad.mit.edu	37	chr16	81151072	81151072	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagctggccaggatgatgGccagctccagaaggttccac	9	7	12	13	0	0	2	0	1	0	1	3	3	3	3	5	4	2	3	5	4	1	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:81151072G>A	ENST00000534142.1	-	0	1064				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGATGATGGCCAGCTCCAG	0.612																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(6670-6672)gCc>gTc		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							81	84	83					16																	81151072		1960	4149	6109			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81151072G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81151072G>A						PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_Non-coding_Transcript	p.A2224V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			40	6671	-			2226					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6671C>T																																																																																					0.612	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			A	81151072	G	A	81151072	1	1	220	0	1	0	0	0	0	0	0	0	11965	1203	42	3		3	PKD1L2	16	81151072	RNA	SNP	G	TCGA-28-6450-01A-11D-1696-08	50355553	81151072	9203681	51	15321											
NF1	4763	broad.mit.edu	37	chr17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-																															tacatcaattgggaagataaCtctgtcattttcctacttgt																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.S340fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S340fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.S340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CI032771|CI064710	NF1	I		c.(1015-1020)aactctfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527568_29527569delCT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1017_1018delCT	17.37:g.29527570_29527571delCT	ENSP00000351015:p.Ser340fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	p.N339fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	8	1400_1401	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	339					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1017_1018delCT	CCDS42292.1																																																																																				0.381	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29527569	CT	-	29527568	7	5	220	1	0	1	0	1	0	0	0	0	10356	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-28-6450-01A-11D-1696-08		29527568	51667642	52	15322											
NF1	4763	broad.mit.edu	37	chr17	29684388	29684391	+	Splice_Site	DEL	GTAA	GTAA	-																															cccaaagtctttcctgttgtGtaagtatctccttttgattt																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29684388_29684391delGTAA	ENST00000358273.4	+	54	8353		c.e54+1		NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000444181.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCCTGTTGTGTAAGTATCTCCTT	0.377			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS000892	NF1	S		c.e54+1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684388_29684391delGTAA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7970+1GTAA>-	17.37:g.29684388_29684391delGTAA		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	p.V2657_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	54	8353	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2657					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	ENST00000358273.4	37	c.7970_splice	CCDS42292.1																																																																																				0.377	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	-	29684391	GTAA	-	29684388	8	5	220	1	0	1	0	1	0	0	1	0	10356	1391	48	0	8246	0	NF1	17	29684388	Splice_Site	DEL	GTAA	TCGA-28-6450-01A-11D-1696-08	156820	29684388	51510822	53	15323											
KRT31	3881	broad.mit.edu	37	chr17	39550299	39550299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaattgcagggcccacagCgggggcgtggggcacagggt	8	4	20	9	2	0	0	0	0	0	0	0	1	0	1	1	7	2	2	1	7	1	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:39550299C>T	ENST00000251645.2	-	7	1272	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	407	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGCCCACAGCGGGGGCGTGG	0.632																																						uc002hwn.3																			0		p.P406A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1219-1221)cGc>cAc		Homo sapiens keratin 31 (KRT31), mRNA.							60	54	56					17																	39550299		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550299C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1220G>A	17.37:g.39550299C>T	ENSP00000251645:p.Arg407His					KRT31_uc010cxn.3_3'UTR	p.R407H	NM_002277	NP_002268	Q15323	K1H1_HUMAN			6	1273	-		Breast(137;0.000496)	407			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1220G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	15.90	2.968086	0.53614	.	.	ENSG00000094796	ENST00000251645	D	0.81821	-1.54	5.52	3.51	0.40186	.	0.127917	0.36740	N	0.002423	T	0.76709	0.4025	M	0.70595	2.14	0.31116	N	0.709458	B	0.09022	0.002	B	0.04013	0.001	T	0.73049	-0.4105	10	0.46703	T	0.11	.	8.7085	0.34369	0.0:0.8234:0.0:0.1766	.	407	Q15323	K1H1_HUMAN	H	407	ENSP00000251645:R407H	ENSP00000251645:R407H	R	-	2	0	KRT31	36803825	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.399000	0.20916	0.697000	0.31718	0.655000	0.94253	CGC		0.632	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		T	39550299	C	T	39550299	3	4	220	1	0	0	0	0	1	0	0	0	8467	768	27	1	34	1	KRT31	17	39550299	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	9865911	39550299	41644911	54	15324											
LAMA1	284217	broad.mit.edu	37	chr18	6985300	6985300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagctctgtagaccaggtCgactgcgttcctttgggaca	7	11	11	12	2	2	1	1	0	1	1	4	3	3	2	2	2	2	3	2	2	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:6985300C>T	ENST00000389658.3	-	39	5689	c.5596G>A	c.(5596-5598)Gac>Aac	p.D1866N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1866	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAGACCAGGTCGACTGCGTTC	0.507																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5596-5598)Gac>Aac		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						202	166	178					18																	6985300		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985300C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5596G>A	18.37:g.6985300C>T	ENSP00000374309:p.Asp1866Asn					LAMA1_uc010wzj.2_Missense_Mutation_p.D1342N	p.D1866N	NM_005559	NP_005550	P25391	LAMA1_HUMAN			38	5690	-		Colorectal(10;0.172)	1866			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5596G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888213	0.17540	.	.	ENSG00000101680	ENST00000389658	T	0.18174	2.23	5.58	3.71	0.42584	.	0.467993	0.22107	N	0.064540	T	0.17152	0.0412	L	0.59436	1.845	0.18873	N	0.999989	B	0.19935	0.04	B	0.08055	0.003	T	0.12344	-1.0551	10	0.44086	T	0.13	.	9.8325	0.40950	0.0:0.7879:0.1375:0.0746	.	1866	P25391	LAMA1_HUMAN	N	1866	ENSP00000374309:D1866N	ENSP00000374309:D1866N	D	-	1	0	LAMA1	6975300	0.926000	0.31397	0.064000	0.19789	0.020000	0.10135	1.788000	0.38714	1.294000	0.44707	0.655000	0.94253	GAC		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6985300	C	T	6985300	3	4	220	1	0	0	0	0	1	0	0	0	8605	884	31	2	3731	2	LAMA1	18	6985300	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		6985300	71091948	55	15325											
ME2	4200	broad.mit.edu	37	chr18	48450505	48450505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatagttatcaggaaccatTtactcactcagccccagaga	14	9	7	11	0	3	2	3	0	0	2	3	4	3	3	3	1	3	1	3	1	4	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:48450505T>G	ENST00000321341.5	+	11	1366	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	ME2_ENST00000382927.3_Missense_Mutation_p.F365C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	365					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CAGGAACCATTTACTCACTCA	0.313																																						uc002ley.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(1093-1095)tTt>tGt		Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						112	111	111					18																	48450505		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48450505T>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1094T>G	18.37:g.48450505T>G	ENSP00000321070:p.Phe365Cys					ME2_uc010dpd.3_Missense_Mutation_p.F365C	p.F365C	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	10	1353	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	365					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.1094T>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418515	0.42918	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.33654	1.4;1.4	5.56	4.37	0.52481	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.045547	0.85682	D	0.000000	T	0.69070	0.3070	H	0.95850	3.73	0.50171	D	0.999859	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.75482	-0.3302	10	0.87932	D	0	-18.7093	9.707	0.40222	0.16:0.0:0.0:0.84	.	365;365	Q9BWL6;P23368	.;MAOM_HUMAN	C	365	ENSP00000321070:F365C;ENSP00000372384:F365C	ENSP00000321070:F365C	F	+	2	0	ME2	46704503	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	4.083000	0.57643	1.005000	0.39183	0.528000	0.53228	TTT		0.313	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		G	48450505	T	G	48450505	3	3	220	1	0	0	0	0	1	0	0	0	9418	1841	64	5	1132	5	ME2	18	48450505	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	41465205	48450505	29626743	56	15326											
ZNF350	59348	broad.mit.edu	37	chr19	52472376	52472376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccacatcctccagtgtTatggattcctgtaataacag	12	11	7	11	0	0	0	0	0	0	0	3	1	3	1	4	1	2	2	4	1	3	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:52472376T>C	ENST00000243644.4	-	3	251	c.24A>G	c.(22-24)atA>atG	p.I8M	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'UTR	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTCCAGTGTTATGGATTCCT	0.453																																						uc002pyd.3																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(22-24)atA>atG		Homo sapiens zinc finger protein 350 (ZNF350), mRNA.							119	110	113					19																	52472376		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52472376T>C	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.24A>G	19.37:g.52472376T>C	ENSP00000243644:p.Ile8Met					BC014606_uc002pyc.3_Intron	p.I8M	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	2	252	-		all_neural(266;0.0505)	8			KRAB.		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.24A>G	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	T	7.491	0.650625	0.14516	.	.	ENSG00000256683	ENST00000243644	T	0.01821	4.62	3.43	-6.64	0.01801	Krueppel-associated box (4);	0.720633	0.10770	N	0.636180	T	0.00875	0.0029	N	0.04994	-0.135	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46992	-0.9151	10	0.51188	T	0.08	.	5.3763	0.16166	0.0:0.2532:0.4426:0.3043	.	8	Q9GZX5	ZN350_HUMAN	M	8	ENSP00000243644:I8M	ENSP00000243644:I8M	I	-	3	3	ZNF350	57164188	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.407000	0.07178	-1.061000	0.03185	-2.648000	0.00150	ATA		0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		C	52472376	T	C	52472376	3	2	220	1	0	0	0	0	1	0	0	0	17860	1744	61	4	1586	4	ZNF350	19	52472376	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		52472376	6656607	57	15327											
PEG3	5178	broad.mit.edu	37	chr19	57327924	57327924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtctccccacacaccttaCattcgtacattttctcttta	10	15	2	14	1	2	0	0	0	2	0	5	0	2	0	3	0	2	1	3	0	4	7	rs140555816		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327924C>G	ENST00000326441.9	-	10	2249	c.1886G>C	c.(1885-1887)tGt>tCt	p.C629S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C503S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C505S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C629S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	629					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACACCTTACATTCGTACAT	0.443																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1885-1887)tGt>tCt		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							98	95	96					19																	57327924		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327924C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1886G>C	19.37:g.57327924C>G	ENSP00000326581:p.Cys629Ser					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C600S|PEG3_uc002qnv.2_Missense_Mutation_p.C629S|PEG3_uc002qnw.2_Missense_Mutation_p.C505S|PEG3_uc002qnx.2_Missense_Mutation_p.C503S|PEG3_uc010etr.2_Missense_Mutation_p.C629S	p.C629S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2237	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	629					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1886G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664471	0.67700	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	D;D	0.99974	-10.2;-10.2	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255329	0.27627	N	0.018531	D	0.99972	0.9991	M	0.84433	2.695	.	.	.	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.958;0.994;0.999	D	0.94792	0.7963	9	0.87932	D	0	-12.7501	14.7172	0.69277	0.0:1.0:0.0:0.0	.	505;629;564	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	629	ENSP00000326581:C629S;ENSP00000403051:C629S	ENSP00000326581:C629S	C	-	2	0	ZIM2	62019736	1.000000	0.71417	0.040000	0.18447	0.765000	0.43378	6.658000	0.74407	2.596000	0.87737	0.650000	0.86243	TGT		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57327924	C	G	57327924	3	3	220	1	0	0	0	0	1	0	0	0	11720	478	17	5	2884	5	PEG3	19	57327924	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	4855548	57327924	1801059	58	15328			1	41		4	4	621	C		4.185408e-10
PEG3	5178	broad.mit.edu	37	chr19	57327945	57327945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcgtacattttctctttaCcatacattttctgaaactca	11	18	2	10	1	3	1	1	1	2	0	5	1	3	1	1	0	4	1	1	0	4	9			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327945C>G	ENST00000326441.9	-	10	2228	c.1865G>C	c.(1864-1866)gGt>gCt	p.G622A	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G496A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G498A|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G622A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	622					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCTCTTTACCATACATTTT	0.443																																						uc002qnu.2																			0		p.Y621Y(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1864-1866)gGt>gCt		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							79	76	77					19																	57327945		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327945C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1865G>C	19.37:g.57327945C>G	ENSP00000326581:p.Gly622Ala					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	p.G622A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2216	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	622					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1865G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	6.422	0.446055	0.12164	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.14144	2.53;2.53	4.02	0.588	0.17445	.	1.280700	0.05475	N	0.553874	T	0.20536	0.0494	L	0.53249	1.67	.	.	.	B;D;P	0.62365	0.001;0.991;0.803	B;P;B	0.50109	0.002;0.631;0.338	T	0.31420	-0.9944	9	0.36615	T	0.2	-7.9048	8.0319	0.30470	0.0:0.366:0.5375:0.0964	.	498;622;557	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	A	622	ENSP00000326581:G622A;ENSP00000403051:G622A	ENSP00000326581:G622A	G	-	2	0	ZIM2	62019757	0.001000	0.12720	0.001000	0.08648	0.824000	0.46624	-0.129000	0.10515	0.235000	0.21160	-0.182000	0.12963	GGT		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57327945	C	G	57327945	3	3	220	1	0	0	0	0	1	0	0	0	11720	507	18	5	2905	5	PEG3	19	57327945	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	21	57327945	1801038	59	15329			1	41		4	4	621	C		4.185408e-10
PEG3	5178	broad.mit.edu	37	chr19	57328102	57328102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaactatgaaggaaggtttCcttacacaccctgcactcgt	12	10	8	11	1	0	2	0	1	0	1	2	3	1	3	2	2	3	2	2	2	5	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328102C>G	ENST00000326441.9	-	10	2071	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E444Q|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E446Q|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E570Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	570					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.448																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1708-1710)Gaa>Caa		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							127	108	115					19																	57328102		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328102C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1708G>C	19.37:g.57328102C>G	ENSP00000326581:p.Glu570Gln					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541Q|PEG3_uc002qnv.2_Missense_Mutation_p.E570Q|PEG3_uc002qnw.2_Missense_Mutation_p.E446Q|PEG3_uc002qnx.2_Missense_Mutation_p.E444Q|PEG3_uc010etr.2_Missense_Mutation_p.E570Q	p.E570Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	2059	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	570					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1708G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437154	0.62955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.01584	4.75;4.75	4.14	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000224	T	0.04048	0.0113	N	0.17474	0.49	.	.	.	P;D;D	0.89917	0.757;0.999;1.0	B;D;D	0.91635	0.429;0.996;0.999	T	0.50634	-0.8805	9	0.72032	D	0.01	-19.3328	12.025	0.53365	0.0:0.8237:0.1763:0.0	.	446;570;505	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Q	570	ENSP00000326581:E570Q;ENSP00000403051:E570Q	ENSP00000326581:E570Q	E	-	1	0	ZIM2	62019914	0.882000	0.30256	1.000000	0.80357	0.994000	0.84299	1.421000	0.34815	1.293000	0.44690	0.650000	0.86243	GAA		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57328102	C	G	57328102	3	3	220	1	0	0	0	0	1	0	0	0	11720	864	30	5	3062	5	PEG3	19	57328102	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	157	57328102	1800881	60	15330			1	41		4	4	621	C		4.185408e-10
PEG3	5178	broad.mit.edu	37	chr19	57328544	57328544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacgctcatggcttttctCatctcactaccacattcaaa	10	13	3	15	1	5	0	5	0	2	0	7	0	5	0	1	1	1	2	1	1	2	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328544C>G	ENST00000326441.9	-	10	1629	c.1266G>C	c.(1264-1266)atG>atC	p.M422I	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.M296I|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M298I|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M422I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	422					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCTTTTCTCATCTCACTAC	0.493																																						uc002qnu.2																			0		p.E421E(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1264-1266)atG>atC		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							150	148	149					19																	57328544		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328544C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1266G>C	19.37:g.57328544C>G	ENSP00000326581:p.Met422Ile					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M393I|PEG3_uc002qnv.2_Missense_Mutation_p.M422I|PEG3_uc002qnw.2_Missense_Mutation_p.M298I|PEG3_uc002qnx.2_Missense_Mutation_p.M296I|PEG3_uc010etr.2_Missense_Mutation_p.M422I	p.M422I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	1617	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	422					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1266G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	9.256	1.042055	0.19748	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02446	4.29;4.29	4.14	3.11	0.35812	.	0.226336	0.31797	N	0.007056	T	0.02494	0.0076	L	0.29908	0.895	.	.	.	B;B;B	0.30914	0.3;0.131;0.167	B;B;B	0.23275	0.027;0.023;0.045	T	0.18967	-1.0320	9	0.72032	D	0.01	-10.748	10.0585	0.42259	0.0:0.9:0.0:0.1	.	298;422;357	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	422;422;392	ENSP00000326581:M422I;ENSP00000403051:M422I	ENSP00000292074:M392I	M	-	3	0	ZIM2	62020356	0.000000	0.05858	0.312000	0.25196	0.962000	0.63368	0.644000	0.24766	1.336000	0.45506	0.650000	0.86243	ATG		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57328544	C	G	57328544	3	3	220	1	0	0	0	0	1	0	0	0	11720	826	29	5	3504	5	PEG3	19	57328544	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	442	57328544	1800439	61	15331			1	41		4	4	621	C		4.185408e-10
SLC12A5	57468	broad.mit.edu	37	chr20	44669236	44669236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtcatcaagtctgccttCgacccacccaacttcccgtg	7	9	9	16	2	3	0	2	0	1	0	5	1	4	0	4	2	2	0	4	2	2	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:44669236C>T	ENST00000454036.2	+	7	955	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC12A5_ENST00000243964.3_Silent_p.F279F|SLC12A5_ENST00000372315.1_Silent_p.F279F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	302					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTCTGCCTTCGACCCACCCA	0.557																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(904-906)ttC>ttT		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						234	188	204					20																	44669236		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669236C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.906C>T	20.37:g.44669236C>T						SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	p.F302F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			6	982	+		Myeloproliferative disorder(115;0.0122)	302					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.906C>T	CCDS46610.1																																																																																				0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44669236	C	T	44669236	2	4	220	1	0	0	0	0	0	0	0	1	14386	883	31	2		2	SLC12A5	20	44669236	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		44669236	18356284	62	15332											
STAU1	6780	broad.mit.edu	37	chr20	47734907	47734907	+	Frame_Shift_Del	DEL	G	G	-																															ccagagccaggttcaaaaaaGgttacttttcttccatcccc																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47734907delG	ENST00000371856.2	-	10	1562	c.1152delC	c.(1150-1152)accfs	p.T384fs	STAU1_ENST00000360426.4_Frame_Shift_Del_p.T303fs|STAU1_ENST00000347458.5_Frame_Shift_Del_p.T303fs|STAU1_ENST00000371828.3_Frame_Shift_Del_p.T309fs|STAU1_ENST00000371792.1_Frame_Shift_Del_p.T301fs|STAU1_ENST00000340954.7_Frame_Shift_Del_p.T303fs|STAU1_ENST00000371802.1_Frame_Shift_Del_p.T309fs	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	384				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2). {ECO:0000305}.	intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTCAAAAAAGGTTACTTTTC	0.388																																						uc002xud.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1150-1152)accfs		Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.							118	114	115					20																	47734907		2203	4300	6503	SO:0001589	frameshift_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734907delG		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1152delC	20.37:g.47734907delG	ENSP00000360922:p.Thr384fs					STAU1_uc002xua.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.3_Frame_Shift_Del_p.T384fs	p.T384fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		9	1563	-			384	QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).				A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Frame_Shift_Del	DEL	ENST00000371856.2	37	c.1152delC	CCDS13414.1																																																																																				0.388	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		-	47734907	G	-	47734907	7	5	220	1	0	1	0	1	0	0	0	0	15271	987	35	0	601	0	STAU1	20	47734907	Frame_Shift_Del	DEL	G	TCGA-28-6450-01A-11D-1696-08	3065671	47734907	15290613	63	15333											
KLHL34	257240	broad.mit.edu	37	chrX	21675508	21675508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgctgccacgttggcggcGaagcagcagttctctggagc	6	7	15	13	5	1	0	0	0	1	0	2	2	1	1	1	3	4	5	1	3	1	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:21675508G>A	ENST00000379499.2	-	1	940	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	133	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTTGGCGGCGAAGCAGCAGT	0.697																																						uc004czz.1																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(397-399)ttC>ttT		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							9	9	9					X																	21675508		2169	4220	6389	SO:0001819	synonymous_variant	257240							g.chrX:21675508G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.399C>T	X.37:g.21675508G>A							p.F133F	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	941	-			133			BACK.			Silent	SNP	ENST00000379499.2	37	c.399C>T	CCDS14199.1																																																																																				0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		A	21675508	G	A	21675508	2	1	220	1	0	0	0	0	0	0	0	1	8387	1049	37	2		2	KLHL34	23	21675508	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08		21675508	133595052	64	15334											
GPR34	2857	broad.mit.edu	37	chrX	41555067	41555067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactgtgttaaccacatccTactctgttattttcatcgtg	8	17	5	11	1	2	0	1	0	1	0	4	0	3	0	2	0	3	2	2	0	4	6			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:41555067T>C	ENST00000378142.4	+	3	465	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.Y61H|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	61					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCACATCCTACTCTGTTAT	0.398																																						uc022bvc.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(181-183)Tac>Cac		Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.							127	98	107					X																	41555067		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555067T>C	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.181T>C	X.37:g.41555067T>C	ENSP00000367384:p.Tyr61His					CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.Y61H|GPR34_uc004dfq.4_Missense_Mutation_p.Y61H|GPR34_uc010nhg.3_Missense_Mutation_p.Y61H|GPR34_uc004dfr.4_Missense_Mutation_p.Y61H	p.Y61H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN			0	181	+			61					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.181T>C	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719422	0.48728	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.42131	0.98;0.98	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.71581	2.175	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.68409	-0.5416	10	0.87932	D	0	-15.1943	15.3733	0.74584	0.0:0.0:0.0:1.0	.	61	Q9UPC5	GPR34_HUMAN	H	61;61;14	ENSP00000367384:Y61H;ENSP00000367378:Y61H	ENSP00000367378:Y61H	Y	+	1	0	GPR34	41440011	1.000000	0.71417	0.877000	0.34402	0.579000	0.36224	6.199000	0.72112	2.014000	0.59158	0.481000	0.45027	TAC		0.398	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		C	41555067	T	C	41555067	3	2	220	1	0	0	0	0	1	0	0	0	6689	1522	53	4	183	4	GPR34	23	41555067	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	19879559	41555067	113715493	65	15335											
MAGEC3	139081	broad.mit.edu	37	chrX	140967026	140967026	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattttgggagtcagccGgaggggaagttttctctgag	7	13	15	6	1	2	1	1	1	1	0	3	4	2	4	1	4	2	2	1	4	1	5	rs182076629		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:140967026G>A	ENST00000298296.1	+	3	324	c.324G>A	c.(322-324)ccG>ccA	p.P108P	MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	108										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCAGCCGGAGGGGAAGT	0.562													g|||	1	0.000264901	8e-04	0	3775	,	,		11751	0		0	False		,,,				2504	0					uc011mwp.2																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(322-324)ccG>ccA		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.		A		1,3834		0,1,1631,571	30	27	28		324	-3.7	0	X		28	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEC3	NM_138702.1		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		108/644	140967026	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140967026G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.324G>A	X.37:g.140967026G>A							p.P108P	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			2	324	+	Acute lymphoblastic leukemia(192;6.56e-05)		108					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.324G>A	CCDS14676.1																																																																																				0.562	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		A	140967026	G	A	140967026	2	1	220	1	0	0	0	0	0	0	0	1	9182	1103	39	2		2	MAGEC3	23	140967026	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	99411959	140967026	14303534	66	15336											
ZNF275	10838	broad.mit.edu	37	chrX	152612297	152612297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacctccgcgacccgaCaccagatgaagggggaagat	14	3	12	12	3	0	3	0	1	0	2	1	6	1	4	4	2	1	1	4	2	3	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:152612297C>T	ENST00000421401.3	+	4	331	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	ZNF275_ENST00000370251.3_Missense_Mutation_p.H52Y|ZNF275_ENST00000440091.1_Missense_Mutation_p.H82Y|ZNF275_ENST00000370249.2_5'UTR			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGACCCGACACCAGATGAA	0.552																																						uc011myn.2																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16								Homo sapiens zinc finger protein 275 (ZNF275), mRNA.							42	43	43					X																	152612297		2009	4163	6172	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612297C>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.154C>T	X.37:g.152612297C>T	ENSP00000398977:p.His52Tyr					ZNF275_uc004fhg.2_Missense_Mutation_p.H52Y|ZNF275_uc022cht.1_5'UTR|ZNF275_uc022chu.1_5'Flank		NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN			1		+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37			.	.	.	.	.	.	.	.	.	.	C	10.52	1.372892	0.24857	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091	T;T;T	0.08370	3.1;3.14;3.15	4.12	2.37	0.29283	.	0.903404	0.09134	N	0.843953	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.22601	0.025;0.04	T	0.40079	-0.9582	10	0.72032	D	0.01	-8.0881	8.0241	0.30427	0.0:0.789:0.0:0.211	.	52;52	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Y	52;52;82	ENSP00000359271:H52Y;ENSP00000398977:H52Y;ENSP00000411097:H82Y	ENSP00000359271:H52Y	H	+	1	0	ZNF275	152265491	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.051000	0.11885	0.522000	0.28464	-0.170000	0.13304	CAC		0.552	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		T	152612297	C	T	152612297	3	4	220	1	0	0	0	0	1	0	0	0	17807	478	17	3	164	3	ZNF275	23	152612297	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	11645271	152612297	2658263	67	15337											
L1CAM	3897	broad.mit.edu	37	chrX	153128302	153128302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccaggggcttgatgtccCcgttgagcgatggctggctg	4	10	16	11	2	0	2	0	2	0	0	1	3	1	2	3	4	2	4	3	4	0	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:153128302C>T	ENST00000370060.1	-	29	3779	c.3590G>A	c.(3589-3591)gGg>gAg	p.G1197E	L1CAM_ENST00000538883.1_Missense_Mutation_p.G1195E|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1197E|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1199E|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1188E|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1188E|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1193E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1197					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGTCCCCGTTGAGCGA	0.607																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3589-3591)gGg>gAg		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							68	50	56					X																	153128302		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128302C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3590G>A	X.37:g.153128302C>T	ENSP00000359077:p.Gly1197Glu					L1CAM_uc004fjc.3_Missense_Mutation_p.G1193E|L1CAM_uc010nuo.3_Missense_Mutation_p.G1188E	p.G1197E	NM_000425	NP_000416	P32004	L1CAM_HUMAN			27	3698	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1197					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3590G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768862	0.31320	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.71	4.71	0.59529	.	0.000000	0.52532	D	0.000078	D	0.83271	0.5218	N	0.16567	0.415	0.41823	D	0.990034	D;P;D	0.69078	0.989;0.712;0.997	P;B;D	0.72982	0.843;0.279;0.979	T	0.78234	-0.2283	10	0.02654	T	1	.	15.5329	0.75977	0.0:1.0:0.0:0.0	.	1188;1193;1197	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	E	1197;1199;1197;1195;1188;1188;93;1193	ENSP00000359077:G1197E;ENSP00000438430:G1199E;ENSP00000359074:G1197E;ENSP00000439645:G1195E;ENSP00000354712:G1188E;ENSP00000359072:G1188E;ENSP00000359075:G93E;ENSP00000355380:G1193E	ENSP00000355380:G1193E	G	-	2	0	L1CAM	152781496	0.345000	0.24835	0.489000	0.27452	0.302000	0.27658	2.942000	0.49018	2.175000	0.68902	0.529000	0.55759	GGG		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153128302	C	T	153128302	3	4	220	1	0	0	0	0	1	0	0	0	8588	623	22	3	187	3	L1CAM	23	153128302	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	516005	153128302	2142258	68	15338											
KIAA0562	9731	broad.mit.edu	37	chr1	3732029	3732029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcggggtggggatcttGcttccggcctttgaccccaa	4	11	12	14	2	1	1	0	1	1	0	3	2	2	2	5	5	1	1	5	5	1	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:3732029G>C	ENST00000378230.3	-	22	3039	c.2715C>G	c.(2713-2715)agC>agG	p.S905R		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	905						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGGGGATCTTGCTTCCGGCCT	0.642																																						uc001aky.2																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2713-2715)agC>agG		Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.							68	60	63					1																	3732029		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3732029G>C	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2715C>G	1.37:g.3732029G>C	ENSP00000367476:p.Ser905Arg					CEP104_uc010nzm.1_Non-coding_Transcript	p.S905R	NM_014704	NP_055519	O60308	CE104_HUMAN			21	3074	-			905					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2715C>G	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919273	0.52546	.	.	ENSG00000116198	ENST00000378230	T	0.40225	1.04	5.18	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66019	-0.6027	10	0.72032	D	0.01	.	10.6147	0.45443	0.0908:0.0:0.9092:0.0	.	905	O60308	CE104_HUMAN	R	905	ENSP00000367476:S905R	ENSP00000367476:S905R	S	-	3	2	CEP104	3721889	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	2.768000	0.47645	1.157000	0.42530	0.462000	0.41574	AGC		0.642	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		C	3732029	G	C	3732029	3	2	221	1	0	0	0	0	1	0	0	0	8184	1310	46	5	66	5	KIAA0562	1	3732029	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		3732029	245518592	1	15339											
TNFRSF8	943	broad.mit.edu	37	chr1	12164492	12164492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccgtgtctgcgaatgtCgacccggcatgttctgttcc	4	12	10	15	4	2	0	0	0	2	0	5	2	4	0	4	1	1	3	4	1	1	2	rs148756853		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:12164492C>T	ENST00000263932.2	+	4	547	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	109					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTGCGAATGTCGACCCGGCAT	0.577																																						uc001atq.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(325-327)Cga>Tga		Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.		C	stop/ARG	1,4405		0,1,2202	174	130	145		325	2.9	0.1	1	dbSNP_134	145	0,8600		0,0,4300	no	stop-gained	TNFRSF8	NM_001243.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		109/596	12164492	1,13005	2203	4300	6503	SO:0001587	stop_gained	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164492C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.325C>T	1.37:g.12164492C>T	ENSP00000263932:p.Arg109*					TNFRSF8_uc010obc.2_5'UTR	p.R109*	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	547	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	109					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	ENST00000263932.2	37	c.325C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.045823	0.75846	2.27E-4	0.0	ENSG00000120949	ENST00000263932	.	.	.	4.92	2.87	0.33458	.	0.281964	0.25735	N	0.028656	.	.	.	.	.	.	0.20873	N	0.999832	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0445	9.6551	0.39921	0.379:0.6209:0.0:0.0	.	.	.	.	X	109	.	ENSP00000263932:R109X	R	+	1	2	TNFRSF8	12087079	0.467000	0.25831	0.110000	0.21437	0.037000	0.13140	1.550000	0.36223	1.379000	0.46325	-0.175000	0.13238	CGA		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12164492	C	T	12164492	4	4	221	1	0	0	0	0	0	1	0	0	16296	876	31	2	339	2	TNFRSF8	1	12164492	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	8432463	12164492	237086129	2	15340											
DPH2	1802	broad.mit.edu	37	chr1	44437537	44437537	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtgttggccctggggcgGcccacccctgccaagcttgc	4	9	13	15	1	0	0	0	0	0	0	0	0	0	0	5	4	3	2	5	4	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:44437537G>T	ENST00000255108.3	+	4	1135	c.963G>T	c.(961-963)cgG>cgT	p.R321R	DPH2_ENST00000412950.2_Silent_p.R186R|DPH2_ENST00000396758.2_Intron|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	321					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGGGGCGGCCCACCCCTG	0.607																																						uc001ckz.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(961-963)cgG>cgT		Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.							85	83	84					1																	44437537		2203	4300	6503	SO:0001819	synonymous_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437537G>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.963G>T	1.37:g.44437537G>T						DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.R186R|DPH2_uc001clb.3_Silent_p.R245R	p.R321R	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			3	1158	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	321					A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	c.963G>T	CCDS504.1																																																																																				0.607	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		T	44437537	G	T	44437537	2	4	221	1	0	0	0	0	0	0	0	1	4720	1190	42	5		5	DPH2	1	44437537	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	32273045	44437537	204813084	3	15341											
PTGFR	5737	broad.mit.edu	37	chr1	79002163	79002163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaacactttttgctctcCgaatggcaacatggaatcaa	15	10	6	10	1	2	0	1	0	1	0	3	2	2	1	1	2	4	2	1	2	6	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:79002163C>T	ENST00000370757.3	+	3	1108	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Nonsense_Mutation_p.R291*	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	291					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.R291R(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TTTTGCTCTCCGAATGGCAAC	0.388																																						uc001din.3																			1	Substitution - coding silent(1)	p.R291R(1)|p.R290M(1)	lung(1)	breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(871-873)Cga>Tga		Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						121	127	125					1																	79002163		2203	4300	6503	SO:0001587	stop_gained	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002163C>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.871C>T	1.37:g.79002163C>T	ENSP00000359793:p.Arg291*					PTGFR_uc001dim.3_3'UTR	p.R291*	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	1137	+			291					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Nonsense_Mutation	SNP	ENST00000370757.3	37	c.871C>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.658011	0.96734	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	.	.	.	5.66	3.63	0.41609	.	0.065138	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2188	14.6078	0.68493	0.265:0.735:0.0:0.0	.	.	.	.	X	291	.	ENSP00000359793:R291X	R	+	1	2	PTGFR	78774751	0.979000	0.34478	0.973000	0.42090	0.686000	0.39977	2.383000	0.44354	1.488000	0.48433	0.655000	0.94253	CGA		0.388	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		T	79002163	C	T	79002163	4	4	221	1	0	0	0	0	0	1	0	0	12749	644	23	2	952	2	PTGFR	1	79002163	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	34564626	79002163	170248458	4	15342											
HRNR	388697	broad.mit.edu	37	chr1	152193260	152193260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacccatgctgaccatagCtggaagacgaacctgagcta	13	6	10	12	1	0	4	0	2	0	2	0	6	0	5	3	1	4	3	3	1	4	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152193260C>G	ENST00000368801.2	-	3	920	c.845G>C	c.(844-846)aGc>aCc	p.S282T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	282					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCATAGCTGGAAGACGA	0.587																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(844-846)aGc>aCc		Homo sapiens hornerin (HRNR), mRNA.							269	246	253					1																	152193260		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193260C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.845G>C	1.37:g.152193260C>G	ENSP00000357791:p.Ser282Thr						p.S282T	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	921	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		282					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.845G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637584	0.14386	.	.	ENSG00000197915	ENST00000368801	T	0.05199	3.48	4.48	1.55	0.23275	.	.	.	.	.	T	0.00815	0.0027	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.47636	-0.9102	9	0.10636	T	0.68	.	4.9117	0.13825	0.0:0.4706:0.3376:0.1918	.	282	Q86YZ3	HORN_HUMAN	T	282	ENSP00000357791:S282T	ENSP00000357791:S282T	S	-	2	0	HRNR	150459884	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.321000	0.08018	0.153000	0.19213	0.644000	0.83932	AGC		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152193260	C	G	152193260	3	3	221	1	0	0	0	0	1	0	0	0	7359	797	28	5	7711	5	HRNR	1	152193260	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	73191097	152193260	97057361	5	15343											
IQGAP3	128239	broad.mit.edu	37	chr1	156518190	156518190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgagggggcagccaggagGttgctcccagatcccctgga	7	7	16	11	0	0	2	0	1	0	1	2	4	2	4	4	5	2	4	4	5	0	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:156518190G>C	ENST00000361170.2	-	18	2093	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	695					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCAGGAGGTTGCTCCCAG	0.557																																						uc001fpf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2083-2085)Cct>Gct		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.							79	73	75					1																	156518190		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156518190G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2083C>G	1.37:g.156518190G>C	ENSP00000354451:p.Pro695Ala						p.P695A	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			17	2158	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		695					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2083C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322113	0.60634	.	.	ENSG00000183856	ENST00000361170	T	0.03745	3.82	4.83	4.83	0.62350	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01256	-1.1404	10	0.72032	D	0.01	-18.9458	16.506	0.84272	0.0:0.0:1.0:0.0	.	695	Q86VI3	IQGA3_HUMAN	A	695	ENSP00000354451:P695A	ENSP00000354451:P695A	P	-	1	0	IQGAP3	154784814	1.000000	0.71417	0.055000	0.19348	0.378000	0.30076	7.831000	0.86748	2.221000	0.72209	0.561000	0.74099	CCT		0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156518190	G	C	156518190	3	2	221	1	0	0	0	0	1	0	0	0	7816	1261	44	5	2896	5	IQGAP3	1	156518190	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	4324930	156518190	92732431	6	15344											
ASPM	259266	broad.mit.edu	37	chr1	197061071	197061071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattaacctgcttgttaGcattcttcacagccaggtaa	11	13	7	10	0	2	1	1	1	1	0	2	1	2	1	2	1	4	4	2	1	4	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:197061071G>T	ENST00000367409.4	-	22	9666	c.9410C>A	c.(9409-9411)gCt>gAt	p.A3137D	ASPM_ENST00000294732.7_Missense_Mutation_p.A1552D|ASPM_ENST00000367408.1_Missense_Mutation_p.A802D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3137					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGCTTGTTAGCATTCTTCAC	0.338																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9409-9411)gCt>gAt		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							82	83	83					1																	197061071		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197061071G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9410C>A	1.37:g.197061071G>T	ENSP00000356379:p.Ala3137Asp					ASPM_uc001gtv.3_Missense_Mutation_p.A1552D|ASPM_uc001gtw.4_Missense_Mutation_p.A985D	p.A3137D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			21	9667	-			3137					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9410C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388692	0.61956	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71817	-0.6;-0.6;1.13	5.28	3.3	0.37823	.	0.190302	0.43579	D	0.000551	T	0.80924	0.4717	M	0.76002	2.32	0.09310	N	0.999999	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.78314	0.916;0.928;0.991	T	0.70288	-0.4913	10	0.52906	T	0.07	.	9.9929	0.41883	0.0763:0.1371:0.7866:0.0	.	1123;1552;3137	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	D	3137;1552;802;1123	ENSP00000356379:A3137D;ENSP00000294732:A1552D;ENSP00000356378:A802D	ENSP00000294732:A1552D	A	-	2	0	ASPM	195327694	0.996000	0.38824	0.065000	0.19835	0.007000	0.05969	3.575000	0.53870	1.376000	0.46267	0.650000	0.86243	GCT		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		T	197061071	G	T	197061071	3	4	221	1	0	0	0	0	1	0	0	0	1056	971	34	5	1051	5	ASPM	1	197061071	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	40542881	197061071	52189550	7	15345											
OR2W5	441932	broad.mit.edu	37	chr1	247654810	247654810	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccgctatgtggccgtctgCcggtccctgcactacatggc	5	9	12	15	3	1	0	0	0	1	0	2	1	2	0	4	3	3	2	4	3	2	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:247654810C>T	ENST00000522351.1	+	0	441							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCGTCTGCCGGTCCCTGC	0.587																																						uc001icz.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39						c.(379-381)tgC>tgT		Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.							101	85	90					1																	247654810		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654810C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654810C>T							p.C127C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	441	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	127					B9EH85	Silent	SNP	ENST00000522351.1	37	c.381C>T																																																																																					0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		T	247654810	C	T	247654810	1	4	221	0	1	0	0	0	0	0	0	0	11034	747	26	3		3	OR2W5	1	247654810	RNA	SNP	C	TCGA-32-1970-01A-01D-1494-08	50593739	247654810	1595811	8	15346											
TRIM58	25893	broad.mit.edu	37	chr1	248039235	248039235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccgccacggcgcaccCgagtctgctcttgaccgccg	5	6	12	18	6	2	1	0	1	2	0	3	3	3	2	5	2	1	2	5	2	0	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248039235C>T	ENST00000366481.3	+	6	953	c.905C>T	c.(904-906)cCg>cTg	p.P302L	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	302	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGGCGCACCCGAGTCTGCTC	0.557																																						uc001ido.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(904-906)cCg>cTg		Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.							67	64	65					1																	248039235		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039235C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.905C>T	1.37:g.248039235C>T	ENSP00000355437:p.Pro302Leu					OR2W3_uc001idp.1_5'UTR	p.P302L	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		5	953	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	302			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.905C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353478	0.41700	.	.	ENSG00000162722	ENST00000366481	T	0.14640	2.49	3.95	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.31888	0.0811	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03354	-1.1045	10	0.33141	T	0.24	.	11.2344	0.48931	0.1846:0.8154:0.0:0.0	.	302	Q8NG06	TRI58_HUMAN	L	302	ENSP00000355437:P302L	ENSP00000355437:P302L	P	+	2	0	TRIM58	246105858	0.974000	0.33945	0.558000	0.28319	0.020000	0.10135	2.673000	0.46858	1.250000	0.43966	0.650000	0.86243	CCG		0.557	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039235	C	T	248039235	3	4	221	1	0	0	0	0	1	0	0	0	16528	652	23	2	927	2	TRIM58	1	248039235	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	384425	248039235	1211386	9	15347											
OR2L3	391192	broad.mit.edu	37	chr1	248224640	248224640	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttcatgttcctatggccgGgttctccttgctgtctacca	5	16	8	12	1	3	0	1	0	2	0	5	0	4	0	4	2	2	3	4	2	2	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248224640G>T	ENST00000359959.3	+	1	657	c.657G>T	c.(655-657)cgG>cgT	p.R219R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.498																																						uc001idx.1																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(655-657)cgG>cgT		Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.							125	131	129					1																	248224640		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224640G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.657G>T	1.37:g.248224640G>T						OR2L13_uc001ids.3_Intron	p.R219R	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	657	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		219					B9EH44	Silent	SNP	ENST00000359959.3	37	c.657G>T	CCDS31104.1																																																																																				0.498	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		T	248224640	G	T	248224640	2	4	221	1	0	0	0	0	0	0	0	1	11008	1219	43	5		5	OR2L3	1	248224640	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	185405	248224640	1025981	10	15348											
OR2G6	391211	broad.mit.edu	37	chr1	248685400	248685400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggtggagcatggctcagCggcctcatcacctccctaat	7	8	11	15	2	3	0	3	0	0	0	4	1	4	1	4	4	2	2	4	4	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248685400C>T	ENST00000343414.4	+	1	485	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCTCAGCGGCCTCATCA	0.577																																						uc001ien.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(451-453)agC>agT		Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.							74	58	64					1																	248685400		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685400C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.453C>T	1.37:g.248685400C>T							p.S151S	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	453	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	151					B2RP33	Silent	SNP	ENST00000343414.4	37	c.453C>T	CCDS31119.1																																																																																				0.577	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		T	248685400	C	T	248685400	2	4	221	1	0	0	0	0	0	0	0	1	11000	767	27	1		1	OR2G6	1	248685400	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	460760	248685400	565221	11	15349											
EHD3	30845	broad.mit.edu	37	chr2	31484475	31484475	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtgttcgggaaggacAacaagaagaaggagctggtc	12	6	15	8	2	0	2	0	0	0	2	3	5	0	5	1	5	2	2	1	5	5	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:31484475A>T	ENST00000322054.5	+	5	1261	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	326					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGGGAAGGACAACAAGAAGAA	0.552																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(976-978)Aac>Tac		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							151	139	143					2																	31484475		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484475A>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.976A>T	2.37:g.31484475A>T	ENSP00000327116:p.Asn326Tyr					EHD3_uc010ymt.2_Intron	p.N326Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1584	+	Acute lymphoblastic leukemia(172;0.155)		326					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.976A>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963411	0.53507	.	.	ENSG00000013016	ENST00000322054	T	0.18016	2.24	6.04	6.04	0.98038	.	0.038178	0.85682	D	0.000000	T	0.24699	0.0599	M	0.64997	1.995	0.80722	D	1	P	0.43412	0.806	B	0.42738	0.396	T	0.01021	-1.1478	10	0.36615	T	0.2	-50.5295	16.5763	0.84648	1.0:0.0:0.0:0.0	.	326	Q9NZN3	EHD3_HUMAN	Y	326	ENSP00000327116:N326Y	ENSP00000327116:N326Y	N	+	1	0	EHD3	31337979	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.242000	0.72376	2.317000	0.78254	0.459000	0.35465	AAC		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31484475	A	T	31484475	3	4	221	1	0	0	0	0	1	0	0	0	4979	130	5	5	994	5	EHD3	2	31484475	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08		31484475	211714898	12	15350											
DPP10	57628	broad.mit.edu	37	chr2	116497460	116497460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaggaaagcagtatccGtatcctaaggtaagtaacat	16	8	8	9	1	0	0	0	0	0	0	2	1	2	1	3	2	2	5	3	2	7	5	rs146251151		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:116497460G>A	ENST00000410059.1	+	9	1323	c.843G>A	c.(841-843)ccG>ccA	p.P281P	DPP10_ENST00000409163.1_Silent_p.P231P|DPP10_ENST00000393147.2_Silent_p.P285P|DPP10_ENST00000310323.8_Silent_p.P274P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423													G|||	1	0.000199681	0	0	5008	,	,		21188	0.001		0	False		,,,				2504	0					uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(853-855)ccG>ccA		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	212	190	198		822,855,693,831,843	-5.7	0.9	2	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,	274/790,285/801,231/747,277/793,281/797	116497460	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497460G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.843G>A	2.37:g.116497460G>A						DPP10_uc002tla.2_Silent_p.P281P|DPP10_uc002tlb.2_Silent_p.P231P|DPP10_uc002tlc.2_Silent_p.P277P|DPP10_uc002tlf.2_Silent_p.P274P	p.P285P	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			8	876	+			281					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.855G>A	CCDS46400.1																																																																																				0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116497460	G	A	116497460	2	1	221	1	0	0	0	0	0	0	0	1	4727	1132	40	1		1	DPP10	2	116497460	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	85012985	116497460	126701913	13	15351											
UGGT1	56886	broad.mit.edu	37	chr2	128939777	128939777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggttacactcctttctGtgacagccgaagagaaatgg	11	12	10	8	1	1	2	0	1	1	1	2	4	2	2	2	2	2	1	2	2	4	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:128939777G>T	ENST00000259253.6	+	37	4204	c.4157G>T	c.(4156-4158)tGt>tTt	p.C1386F	UGGT1_ENST00000375990.3_Missense_Mutation_p.C1362F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1386	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCCTTTCTGTGACAGCCGA	0.418																																						uc002tps.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4156-4158)tGt>tTt		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.							124	126	125					2																	128939777		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128939777G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4157G>T	2.37:g.128939777G>T	ENSP00000259253:p.Cys1386Phe					UGGT1_uc002tpr.3_Missense_Mutation_p.C1362F	p.C1386F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			36	4335	+			1386			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4157G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699867	0.88924	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87002	0.2117	9	.	.	.	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1386	Q9NYU2	UGGG1_HUMAN	F	1362;1386	ENSP00000365158:C1362F;ENSP00000259253:C1386F	.	C	+	2	0	UGGT1	128656247	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.420000	0.97426	2.693000	0.91896	0.650000	0.86243	TGT		0.418	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		T	128939777	G	T	128939777	3	4	221	1	0	0	0	0	1	0	0	0	16938	1377	48	5	4303	5	UGGT1	2	128939777	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	12442317	128939777	114259596	14	15352											
GCA	25801	broad.mit.edu	37	chr2	163204170	163204170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccagctatactcctcgatgGatactctgggccagcatatt	9	11	8	13	1	1	0	0	0	1	0	3	2	2	1	3	2	4	2	3	2	4	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:163204170G>C	ENST00000437150.2	+	2	271	c.110G>C	c.(109-111)gGa>gCa	p.G37A	GCA_ENST00000233612.4_Missense_Mutation_p.G18A|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.G18A	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	37					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTCCTCGATGGATACTCTGGG	0.463																																						uc002ucg.3																			0		p.G37*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(109-111)gGa>gCa		Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.							95	86	89					2																	163204170		2203	4300	6503	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163204170G>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"EF-hand domain containing"	15990	protein-coding gene	gene with protein product		607030	"grancalcin, EF-hand calcium-binding protein"			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.110G>C	2.37:g.163204170G>C	ENSP00000394842:p.Gly37Ala						p.G37A	NM_012198	NP_036330	P28676	GRAN_HUMAN			1	286	+			37					B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.110G>C	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990536	0.18966	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	D;T;T;D;T	0.92099	-2.97;0.4;-1.05;-2.09;-1.11	4.99	3.13	0.36017	.	10.390100	0.05093	U	0.485609	D	0.89945	0.6862	L	0.46157	1.445	0.47065	D	0.999301	B	0.33694	0.421	B	0.33750	0.169	T	0.72293	-0.4336	10	0.31617	T	0.26	.	11.747	0.51825	0.0731:0.0:0.8023:0.1246	.	37	P28676	GRAN_HUMAN	A	63;18;37;18;18	ENSP00000393218:G63A;ENSP00000412899:G18A;ENSP00000394842:G37A;ENSP00000403805:G18A;ENSP00000233612:G18A	ENSP00000233612:G18A	G	+	2	0	GCA	162912416	1.000000	0.71417	0.014000	0.15608	0.002000	0.02628	2.889000	0.48601	0.221000	0.20879	-1.094000	0.02160	GGA		0.463	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		C	163204170	G	C	163204170	3	2	221	1	0	0	0	0	1	0	0	0	6283	1174	41	5	116	5	GCA	2	163204170	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	34264393	163204170	79995203	15	15353											
TTN	7273	broad.mit.edu	37	chr2	179598493	179598493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttccgtcttctctgAtgacctcttgacctttcatc	5	19	5	12	1	4	4	1	4	3	0	7	4	5	4	3	0	0	0	3	0	0	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:179598493A>G	ENST00000591111.1	-	51	14896	c.14672T>C	c.(14671-14673)aTc>aCc	p.I4891T	TTN_ENST00000342992.6_Missense_Mutation_p.I3964T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I5208T|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12283	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTCTCTGATGACCTCTTG	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11890-11892)aTc>aCc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							193	183	186					2																	179598493		1921	4141	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598493A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14672T>C	2.37:g.179598493A>G	ENSP00000465570:p.Ile4891Thr					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	p.I3964T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	12116	-			4891					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11891T>C		.	.	.	.	.	.	.	.	.	.	A	13.66	2.302775	0.40795	.	.	ENSG00000155657	ENST00000342992	T	0.68903	-0.36	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75347	0.3837	M	0.87971	2.92	0.80722	D	1	B	0.25048	0.117	B	0.33295	0.161	T	0.76242	-0.3031	9	0.87932	D	0	.	16.1328	0.81454	1.0:0.0:0.0:0.0	.	4891	Q8WZ42	TITIN_HUMAN	T	3964	ENSP00000343764:I3964T	ENSP00000343764:I3964T	I	-	2	0	TTN	179306738	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.339000	0.96797	2.208000	0.71279	0.533000	0.62120	ATC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179598493	A	G	179598493	3	3	221	1	0	0	0	0	1	0	0	0	16732	333	12	4	89146	4	TTN	2	179598493	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	16394323	179598493	63600880	16	15354											
GLS	2744	broad.mit.edu	37	chr2	191765419	191765419	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcagtctggaggaaaGgtaatgcttttgatgtacat	15	11	11	4	0	1	1	0	1	1	0	1	3	1	3	0	3	3	4	0	3	5	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:191765419G>A	ENST00000320717.3	+	4	993	c.735G>A	c.(733-735)aaG>aaA	p.K245K	GLS_ENST00000338435.4_Splice_Site_p.K245K	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	245					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CTGGAGGAAAGGTAATGCTTT	0.323																																						uc002usf.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.e4+1		Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						118	113	115					2																	191765419		2203	4299	6502	SO:0001630	splice_region_variant	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191765419G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.735+1G>A	2.37:g.191765419G>A						GLS_uc002use.2_Splice_Site_p.K245_splice	p.K245_splice	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		4	999	+			245					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	ENST00000320717.3	37	c.735_splice	CCDS2308.1																																																																																				0.323	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2		Silent	A	191765419	G	A	191765419	5	1	221	1	0	0	0	0	0	0	1	0	6463	1014	35	3	749	3	GLS	2	191765419	Splice_Site	SNP	G	TCGA-32-1970-01A-01D-1494-08	12166926	191765419	51433954	17	15355											
RBMS3	27303	broad.mit.edu	37	chr3	30032601	30032601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatacctctccccagaCagtggcaccttcatcccagg	8	9	8	16	0	2	2	1	1	1	1	4	2	3	2	5	2	2	2	5	2	1	2	rs143165101	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:30032601C>G	ENST00000383767.2	+	14	1544	c.1208C>G	c.(1207-1209)aCa>aGa	p.T403R	RBMS3_ENST00000273139.9_Missense_Mutation_p.T387R|RBMS3_ENST00000434693.2_Missense_Mutation_p.T402R|RBMS3_ENST00000452462.1_Missense_Mutation_p.T387R|RBMS3_ENST00000383766.2_Missense_Mutation_p.T385R|RBMS3_ENST00000456853.1_Missense_Mutation_p.T400R|RBMS3_ENST00000396583.3_Missense_Mutation_p.T400R|RBMS3_ENST00000473799.1_3'UTR			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	403					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TCTCCCCAGACAGTGGCACCT	0.483																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1207-1209)aCa>aGa		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							201	164	176					3																	30032601		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032601C>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1208C>G	3.37:g.30032601C>G	ENSP00000373277:p.Thr403Arg					RBMS3_uc010hfq.3_Missense_Mutation_p.T400R|RBMS3_uc003cek.3_Missense_Mutation_p.T387R|RBMS3_uc010hfr.3_Missense_Mutation_p.T387R|RBMS3_uc003cem.3_Missense_Mutation_p.T385R	p.T403R	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			13	1578	+		Ovarian(412;0.0956)	403					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1208C>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908481	0.72868	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.26957	1.76;1.71;1.76;1.72;1.83;1.7;1.71	5.3	5.3	0.74995	.	0.059794	0.64402	D	0.000003	T	0.15349	0.0370	N	0.08118	0	0.58432	D	0.999997	B;P;P;B	0.39282	0.001;0.666;0.478;0.346	B;B;B;B	0.36666	0.003;0.23;0.161;0.084	T	0.10613	-1.0622	9	.	.	.	.	18.9853	0.92767	0.0:1.0:0.0:0.0	.	387;400;385;403	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	402;400;403;387;385;387;400	ENSP00000395592:T402R;ENSP00000379828:T400R;ENSP00000373277:T403R;ENSP00000273139:T387R;ENSP00000373276:T385R;ENSP00000397926:T387R;ENSP00000400519:T400R	.	T	+	2	0	RBMS3	30007605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.305000	0.65750	2.469000	0.83416	0.655000	0.94253	ACA		0.483	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		G	30032601	C	G	30032601	3	3	221	1	0	0	0	0	1	0	0	0	13150	478	17	5	1305	5	RBMS3	3	30032601	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		30032601	167989829	18	15356											
CCR9	10803	broad.mit.edu	37	chr3	45942421	45942421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaatgtcaggcagtttgcGagccatttcctcccaccctt	9	11	7	14	1	1	0	1	0	0	0	3	1	3	0	4	1	3	2	4	1	2	3	rs372974725		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:45942421G>A	ENST00000357632.2	+	3	321	c.141G>A	c.(139-141)gcG>gcA	p.A47A	CCR9_ENST00000355983.2_Silent_p.A35A|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.A35A|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.R76Q	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	47					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGCAGTTTGCGAGCCATTTCC	0.468																																						uc003coz.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(139-141)gcG>gcA		Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.		G	,	0,4406		0,0,2203	182	154	164		105,141	-10.3	0	3		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CCR9	NM_006641.3,NM_031200.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	35/358,47/370	45942421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942421G>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.141G>A	3.37:g.45942421G>A						LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.A35A|CCR9_uc003cpa.2_Silent_p.A35A|CCR9_uc021wwv.1_Silent_p.A35A	p.A47A	NM_031200	NP_006632	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	2	321	+			47					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.141G>A	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086890	0.20390	0.0	1.16E-4	ENSG00000173585	ENST00000422395	T	0.32753	1.44	5.14	-10.3	0.00346	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.56571	-0.7957	6	0.87932	D	0	.	2.963	0.05899	0.3287:0.341:0.2182:0.1121	.	.	.	.	Q	76	ENSP00000393267:R76Q	ENSP00000393267:R76Q	R	+	2	0	CCR9	45917425	0.000000	0.05858	0.009000	0.14445	0.702000	0.40608	-3.683000	0.00394	-1.687000	0.01437	0.563000	0.77884	CGA		0.468	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			A	45942421	G	A	45942421	2	1	221	1	0	0	0	0	0	0	0	1	2948	1045	37	2		2	CCR9	3	45942421	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	15909820	45942421	152080009	19	15357											
STAB1	23166	broad.mit.edu	37	chr3	52540233	52540233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcggatcctcaccatggcGaaccaggtcctggctgtgaa	8	8	13	12	2	1	1	1	1	0	0	4	3	3	2	4	5	1	1	4	5	2	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:52540233G>A	ENST00000321725.6	+	17	1873	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	599	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.A599A(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCACCATGGCGAACCAGGTCC	0.622																																						uc003dej.3																			1	Substitution - coding silent(1)	p.A599A(2)	large_intestine(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1795-1797)gcG>gcA		Homo sapiens stabilin 1 (STAB1), mRNA.							96	76	83					3																	52540233		2202	4300	6502	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540233G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1797G>A	3.37:g.52540233G>A						STAB1_uc003dei.1_Silent_p.A599A	p.A599A	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	16	1871	+			599			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1797G>A	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52540233	G	A	52540233	2	1	221	1	0	0	0	0	0	0	0	1	15236	1045	37	2		2	STAB1	3	52540233	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	6597812	52540233	145482197	20	15358											
STXBP5L	9515	broad.mit.edu	37	chr3	120764376	120764376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcttaaatttaaccGggaacggtaagaacctatga	14	11	7	9	2	1	2	0	1	1	1	2	3	1	3	3	2	3	1	3	2	7	6	rs200925938		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:120764376G>A	ENST00000273666.6	+	5	735	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R155Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R155Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R155Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R155Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	155					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R155L(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAATTTAACCGGGAACGGTAA	0.358													g|||	1	0.000199681	8e-04	0	5008	,	,		16976	0		0	False		,,,				2504	0					uc003eec.4																			1	Substitution - Missense(1)	p.R155L(2)	lung(1)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(463-465)cGg>cAg		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							125	123	124					3																	120764376		1810	4071	5881	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120764376G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.464G>A	3.37:g.120764376G>A	ENSP00000273666:p.Arg155Gln					STXBP5L_uc011bji.2_Missense_Mutation_p.R155Q	p.R155Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	4	604	+			155					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.464G>A	CCDS43137.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	26.7	4.764100	0.89932	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.54279	0.58;1.59;0.58;0.58;1.59;1.59	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.78637	2.42	0.48511	D	0.999668	D;D	0.76494	0.957;0.999	B;D	0.72625	0.223;0.978	T	0.67288	-0.5708	10	0.27785	T	0.31	-16.4709	11.6675	0.51383	0.0807:0.0:0.9193:0.0	.	155;155	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	155	ENSP00000273666:R155Q;ENSP00000420019:R155Q;ENSP00000419627:R155Q;ENSP00000420287:R155Q;ENSP00000420666:R155Q;ENSP00000420167:R155Q	ENSP00000273666:R155Q	R	+	2	0	STXBP5L	122247066	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.036000	0.76524	2.543000	0.85770	0.655000	0.94253	CGG		0.358	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			A	120764376	G	A	120764376	3	1	221	1	0	0	0	0	1	0	0	0	15356	1116	39	2	478	2	STXBP5L	3	120764376	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	68224143	120764376	77258054	21	15359											
MECOM	2122	broad.mit.edu	37	chr3	168833869	168833869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactttccagatcagagccCgaggttgtttccaggtcact	8	12	9	12	1	3	2	3	0	0	2	5	3	5	2	3	2	1	2	3	2	0	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:168833869C>T	ENST00000464456.1	-	7	2427	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	MECOM_ENST00000472280.1_Silent_p.S410S|MECOM_ENST00000468789.1_Silent_p.S409S|MECOM_ENST00000460814.1_Silent_p.S409S|MECOM_ENST00000392736.3_Silent_p.S409S|MECOM_ENST00000494292.1_Silent_p.S597S|MECOM_ENST00000264674.3_Silent_p.S474S|MECOM_ENST00000433243.2_Silent_p.S410S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATCAGAGCCCGAGGTTGTTT	0.423																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1789-1791)tcG>tcA		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							271	237	248					3																	168833869		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833869C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1227G>A	3.37:g.168833869C>T						MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc003ffi.3_Silent_p.S409S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpk.1_Silent_p.S409S|MECOM_uc010hwn.2_Silent_p.S597S	p.S597S	NM_004991	NP_004982	Q13465	MDS1_HUMAN			7	2194	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.1791G>A	CCDS54669.1																																																																																				0.423	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		T	168833869	C	T	168833869	2	4	221	1	0	0	0	0	0	0	0	1	9422	639	23	2		2	MECOM	3	168833869	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	48069493	168833869	29188561	22	15360											
ACAP2	23527	broad.mit.edu	37	chr3	195102729	195102729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttttccagtatcaatcAttgcaatacaaagtttcaca	14	13	5	9	0	3	0	3	0	0	0	4	0	4	0	1	1	2	4	1	1	5	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195102729A>G	ENST00000326793.6	-	3	364	c.134T>C	c.(133-135)aTg>aCg	p.M45T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	45	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGTATCAATCATTGCAATACA	0.343																																						uc003fun.4																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(133-135)aTg>aCg		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.							65	66	66					3																	195102729		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195102729A>G		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.134T>C	3.37:g.195102729A>G	ENSP00000324287:p.Met45Thr					ACAP2_uc003fuo.3_Missense_Mutation_p.M45T	p.M45T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			2	375	-			45			BAR.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.134T>C	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.857466	0.71834	.	.	ENSG00000114331	ENST00000326793;ENST00000439666	T;T	0.04502	6.86;3.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.17195	0.0413	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.96;0.996	D;D	0.67900	0.922;0.954	T	0.00234	-1.1893	10	0.48119	T	0.1	.	13.7187	0.62714	1.0:0.0:0.0:0.0	.	1;45	C9J8L1;Q15057	.;ACAP2_HUMAN	T	45;1	ENSP00000324287:M45T;ENSP00000411336:M1T	ENSP00000324287:M45T	M	-	2	0	ACAP2	196584018	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	8.196000	0.89725	2.123000	0.65237	0.460000	0.39030	ATG		0.343	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		G	195102729	A	G	195102729	3	3	221	1	0	0	0	0	1	0	0	0	119	217	8	4	2286	4	ACAP2	3	195102729	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	26268860	195102729	2919701	23	15361											
TNK2	10188	broad.mit.edu	37	chr3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G																															tttcacccctcctagatgctINSgggggggccgggaggtgctc																										TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195597005_195597006insG	ENST00000333602.6	-	11	2139_2140	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_ENST00000428187.1_Frame_Shift_Ins_p.Q540fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.Q571fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.Q508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614																																						uc003fvu.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1522-1524)cagfs		Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195597005_195597006insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1523dupC	3.37:g.195597012_195597012dupG	ENSP00000329425:p.Gln508fs					TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs	p.Q508fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	2065_2066	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	508	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1522_1523insC	CCDS33928.1																																																																																				0.614	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		G	195597006	-	G	195597005	7	5	221	1	0	1	1	0	0	0	0	0	16315	1580	55	0	1662	0	TNK2	3	195597005	Frame_Shift_Ins	INS	-	TCGA-32-1970-01A-01D-1494-08	494276	195597005	2425425	24	15362											
GPR78	27201	broad.mit.edu	37	chr4	8583361	8583361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcgctcgcgctgctcGccgacctgcaccccaggtat	6	7	12	16	5	0	1	0	1	0	0	2	2	0	1	4	2	2	5	4	2	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:8583361G>A	ENST00000382487.4	+	1	1069	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	218					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCGCTGCTCGCCGACCTGCA	0.687																																						uc003glk.3																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(652-654)Gcc>Acc		Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.							7	7	7					4																	8583361		2145	4199	6344	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8583361G>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.652G>A	4.37:g.8583361G>A	ENSP00000371927:p.Ala218Thr					GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	p.A218T	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			0	1145	+			218					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.652G>A	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	3.183	-0.167500	0.06461	.	.	ENSG00000155269	ENST00000382487	T	0.61980	0.06	2.05	0.081	0.14423	GPCR, rhodopsin-like superfamily (1);	0.090064	0.43579	U	0.000548	T	0.27098	0.0664	N	0.02011	-0.69	0.23243	N	0.998059	B	0.23249	0.082	B	0.17098	0.017	T	0.23691	-1.0181	10	0.14252	T	0.57	.	7.2807	0.26310	0.2292:0.0:0.7708:0.0	.	218	Q96P69	GPR78_HUMAN	T	218	ENSP00000371927:A218T	ENSP00000371927:A218T	A	+	1	0	GPR78	8634261	1.000000	0.71417	0.000000	0.03702	0.028000	0.11728	1.881000	0.39638	-0.939000	0.03709	-0.657000	0.03884	GCC		0.687	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8583361	G	A	8583361	3	1	221	1	0	0	0	0	1	0	0	0	6710	1087	38	1	654	1	GPR78	4	8583361	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		8583361	182570915	25	15363											
FGB	2244	broad.mit.edu	37	chr4	155487823	155487823	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggcagaagcaagtaaaAggtagatatccttgtgcttt	15	10	11	5	0	0	3	0	0	0	3	1	3	1	3	1	2	2	5	1	2	7	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:155487823A>T	ENST00000302068.4	+	3	552	c.489A>T	c.(487-489)aaA>aaT	p.K163N	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	163		Cleavage; by plasmin; to break down fibrin clots.			blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAAGTAAAAGGTAGATATC	0.403																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.e3+1		Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	Sucralfate(DB00364)						109	110	110					4																	155487823		2203	4300	6503	SO:0001630	splice_region_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487823A>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.490+1A>T	4.37:g.155487823A>T						FGB_uc010ipu.1_Splice_Site|FGB_uc010ipv.3_Splice_Site_p.D105_splice	p.D164_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	529	+	all_hematologic(180;0.215)	Renal(120;0.0458)	164				Cleavage; by plasmin; to break down fibrin clots.	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.490_splice	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648462	0.29336	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.82081	-1.57	5.25	4.07	0.47477	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.760251	0.13385	N	0.391830	T	0.70500	0.3231	L	0.27053	0.805	0.80722	D	1	B;B	0.32731	0.382;0.005	B;B	0.31686	0.134;0.007	T	0.60089	-0.7331	10	0.17832	T	0.49	.	8.932	0.35677	0.9141:0.0:0.0859:0.0	.	146;163	B4E1D3;P02675	.;FIBB_HUMAN	N	163;146	ENSP00000306099:K163N	ENSP00000306099:K163N	K	+	3	2	FGB	155707273	0.998000	0.40836	0.836000	0.33094	0.950000	0.60333	4.993000	0.63895	0.948000	0.37687	0.455000	0.32223	AAA		0.403	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	Missense_Mutation	T	155487823	A	T	155487823	5	4	221	1	0	0	0	0	0	0	1	0	5831	86	3	5	499	5	FGB	4	155487823	Splice_Site	SNP	A	TCGA-32-1970-01A-01D-1494-08	146904462	155487823	35666453	26	15364											
C5orf42	65250	broad.mit.edu	37	chr5	37167302	37167302	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcaagtgggataagtTgtgtttttttgcactacaag	9	17	11	4	0	1	0	1	0	0	0	1	1	1	1	0	2	2	4	0	2	4	8			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:37167302T>A	ENST00000508244.1	-	34	7340	c.7247A>T	c.(7246-7248)cAa>cTa	p.Q2416L	C5orf42_ENST00000425232.2_Missense_Mutation_p.Q2416L|C5orf42_ENST00000274258.7_Missense_Mutation_p.Q1296L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2416						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGATAAGTTGTGTTTTTTT	0.313																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(7246-7248)cAa>cTa		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							109	94	99					5																	37167302		2203	4299	6502	SO:0001583	missense	65250							g.chr5:37167302T>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7247A>T	5.37:g.37167302T>A	ENSP00000421690:p.Gln2416Leu					C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	p.Q2416L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7478	-	all_lung(31;0.000616)		2416					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.7247A>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149337	0.37923	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25912	1.8;1.8;1.77;1.78	5.5	4.34	0.51931	.	0.290888	0.25078	N	0.033302	T	0.34483	0.0899	L	0.50333	1.59	0.24725	N	0.993126	P;D	0.56035	0.949;0.974	P;P	0.53954	0.602;0.738	T	0.12656	-1.0539	10	0.62326	D	0.03	.	9.706	0.40216	0.0:0.0781:0.0:0.9219	.	2416;1296	E9PH94;Q9H799	.;CE042_HUMAN	L	2416;2416;1296;1464;1296	ENSP00000421690:Q2416L;ENSP00000389014:Q2416L;ENSP00000274258:Q1296L;ENSP00000424223:Q1464L	ENSP00000274258:Q1296L	Q	-	2	0	C5orf42	37203059	0.998000	0.40836	0.064000	0.19789	0.201000	0.24016	3.564000	0.53791	0.930000	0.37217	0.533000	0.62120	CAA		0.313	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37167302	T	A	37167302	3	1	221	1	0	0	0	0	1	0	0	0	2301	1812	63	5	2418	5	C5orf42	5	37167302	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08		37167302	143747958	27	15365											
C7	730	broad.mit.edu	37	chr5	40976859	40976859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatccttttttagaaaatccGttaacacaggcagtgcctaa	13	13	6	9	1	0	1	0	0	0	1	2	1	2	1	3	1	2	2	3	1	6	6	rs367904690		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:40976859G>A	ENST00000313164.9	+	16	2441	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	694					cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TAGAAAATCCGTTAACACAGG	0.433																																						uc003jmh.3																			0											c.(2080-2082)ccG>ccA		Homo sapiens complement component 7 (C7), mRNA.		G		0,3892		0,0,1946	77	77	77		2082	-0.7	0	5		77	1,8277		0,1,4138	no	coding-synonymous	C7	NM_000587.2		0,1,6084	AA,AG,GG		0.0121,0.0,0.0082		694/844	40976859	1,12169	1946	4139	6085	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40976859G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2082G>A	5.37:g.40976859G>A						C7_uc011cpn.1_Non-coding_Transcript	p.P694P	NM_000587	NP_000578	P10643	CO7_HUMAN			15	2196	+		Ovarian(839;0.0112)	694					Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.2082G>A	CCDS47201.1																																																																																				0.433	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			A	40976859	G	A	40976859	2	1	221	1	0	0	0	0	0	0	0	1	2375	1132	40	1		1	C7	5	40976859	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	3809557	40976859	139938401	28	15366											
ACTBL2	345651	broad.mit.edu	37	chr5	56778318	56778318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggtgaccactccatgctCgataggatacttcagggtca	9	11	11	10	1	2	1	2	1	0	0	4	3	3	2	2	3	2	2	2	3	2	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:56778318C>T	ENST00000423391.1	-	1	318	c.217G>A	c.(217-219)Gag>Aag	p.E73K	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	73						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACTCCATGCTCGATAGGATAC	0.542																																						uc003jrm.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(217-219)Gag>Aag		Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.							102	82	89					5																	56778318		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778318C>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.217G>A	5.37:g.56778318C>T	ENSP00000416706:p.Glu73Lys						p.E73K	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	0	319	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	73					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.217G>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299341	0.40694	.	.	ENSG00000169067	ENST00000423391	D	0.97328	-4.34	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000004	D	0.97247	0.9100	M	0.79123	2.44	0.58432	D	0.999991	P	0.42375	0.778	P	0.47864	0.559	D	0.98057	1.0391	10	0.87932	D	0	.	15.3463	0.74340	0.0:1.0:0.0:0.0	.	73	Q562R1	ACTBL_HUMAN	K	73	ENSP00000416706:E73K	ENSP00000416706:E73K	E	-	1	0	ACTBL2	56814075	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.645000	0.83430	2.475000	0.83589	0.563000	0.77884	GAG		0.542	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56778318	C	T	56778318	3	4	221	1	0	0	0	0	1	0	0	0	194	893	31	2	917	2	ACTBL2	5	56778318	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	15801459	56778318	124136942	29	15367											
GPR98	84059	broad.mit.edu	37	chr5	89990447	89990447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtggcagtcgaatggcGtgttgttggtggaacagcta	9	11	15	6	2	1	0	1	0	0	0	2	2	1	1	0	4	2	4	0	4	4	3	rs201214794	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:89990447G>A	ENST00000405460.2	+	33	7970	c.7874G>A	c.(7873-7875)cGt>cAt	p.R2625H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2625	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCGAATGGCGTGTTGTTGGT	0.473													G|||	3	0.000599042	0	0	5008	,	,		16405	0		0.002	False		,,,				2504	0.001					uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7873-7875)cGt>cAt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.		G	HIS/ARG	2,4056		0,2,2027	147	153	151		7874	5.8	1	5		151	26,8320		0,26,4147	yes	missense	GPR98	NM_032119.3	29	0,28,6174	AA,AG,GG		0.3115,0.0493,0.2257	benign	2625/6307	89990447	28,12376	2029	4173	6202	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89990447G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7874G>A	5.37:g.89990447G>A	ENSP00000384582:p.Arg2625His					GPR98_uc003kjt.3_Missense_Mutation_p.R331H|GPR98_uc003kjv.3_Missense_Mutation_p.R225H	p.R2625H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	32	7970	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2625					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7874G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.038215|2.038215	0.35989|0.35989	4.93E-4|4.93E-4	0.003115|0.003115	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.32753|.	1.44|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Na-Ca exchanger/integrin-beta4 (2);|.	0.193298|.	0.56097|.	D|.	0.000040|.	T|T	0.58438|0.58438	0.2122|0.2122	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	B;B|.	0.20261|.	0.043;0.043|.	B;B|.	0.27380|.	0.054;0.079|.	T|T	0.52586|0.52586	-0.8556|-0.8556	10|5	0.48119|.	T|.	0.1|.	.|.	15.25|15.25	0.73536|0.73536	0.069:0.0:0.931:0.0|0.069:0.0:0.931:0.0	.|.	2625;2625|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|M	2625|191	ENSP00000384582:R2625H|.	ENSP00000296619:R2625H|.	R|V	+|+	2|1	0|0	GPR98|GPR98	90026203|90026203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.772000|0.772000	0.43724|0.43724	2.623000|2.623000	0.46435|0.46435	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89990447	G	A	89990447	3	1	221	1	0	0	0	0	1	0	0	0	6721	1145	40	1	8004	1	GPR98	5	89990447	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	33212129	89990447	90924813	30	15368											
PCDHA2	56146	broad.mit.edu	37	chr5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccgagggtgcgcgcgCgccaggaaagcccacgctgg	8	2	15	16	6	0	0	0	0	0	0	0	2	0	1	4	3	2	1	4	3	1	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682																																						uc003lhd.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2197-2199)gCg>gTg		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							48	50	50					5																	140176747		2203	4299	6502	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140176747C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2198C>T	5.37:g.140176747C>T	ENSP00000431748:p.Ala733Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A733V	p.A733V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2304	+			752					O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2198C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	N	2.817	-0.245675	0.05906	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.76709	-1.04;-1.04;-1.04	4.0	-2.0	0.07433	.	0.702690	0.11252	N	0.583549	T	0.62307	0.2417	L	0.35341	1.055	0.09310	N	1	B;B;B	0.17268	0.021;0.007;0.021	B;B;B	0.12837	0.008;0.002;0.005	T	0.41016	-0.9532	10	0.15952	T	0.53	.	9.476	0.38871	0.0:0.5254:0.2214:0.2532	.	733;733;733	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	733	ENSP00000430584:A733V;ENSP00000367372:A733V;ENSP00000431748:A733V	ENSP00000367372:A733V	A	+	2	0	PCDHA2	140156931	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.060000	0.01392	-1.208000	0.02634	-2.635000	0.00153	GCG		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140176747	C	T	140176747	3	4	221	1	0	0	0	0	1	0	0	0	11524	768	27	1	2200	1	PCDHA2	5	140176747	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	50186300	140176747	40738513	31	15369											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730079	140730079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggggatttgttagtgaaCggtaggatagatcgagagaa	13	9	16	3	3	0	3	0	1	0	2	1	7	0	5	0	4	2	2	0	4	5	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140730079C>T	ENST00000523390.1	+	1	252	c.252C>T	c.(250-252)aaC>aaT	p.N84N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N84N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGAACGGTAGGATAG	0.473											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljo.2																			2	Substitution - coding silent(2)	p.N84N(2)	central_nervous_system(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(250-252)aaC>aaT		Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.							94	91	92					5																	140730079		1866	4091	5957	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730079C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.252C>T	5.37:g.140730079C>T			OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.N84N	p.N84N	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	252	+			87			Cadherin 1.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.252C>T	CCDS54923.1																																																																																				0.473	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		T	140730079	C	T	140730079	2	4	221	1	0	0	0	0	0	0	0	1	11562	535	19	1		1	PCDHGB1	5	140730079	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	553332	140730079	40185181	32	15370											
FAM71B	153745	broad.mit.edu	37	chr5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctccccttggcaaacCggccccatctgacatgctgt	7	9	8	17	1	2	1	0	1	2	0	3	2	2	1	6	2	2	2	6	2	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:156592869C>T	ENST00000302938.4	-	1	406	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	104						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542																																						uc003lwn.3																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(310-312)cGg>cAg		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.							70	71	71					5																	156592869		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592869C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.311G>A	5.37:g.156592869C>T	ENSP00000305596:p.Arg104Gln						p.R104Q	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	411	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	104					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.311G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898328	0.02472	.	.	ENSG00000170613	ENST00000302938	T	0.03607	3.87	4.67	1.82	0.25136	.	1.041460	0.07653	N	0.932348	T	0.01421	0.0046	N	0.01800	-0.715	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47368	-0.9123	10	0.08179	T	0.78	-0.9076	4.2326	0.10610	0.0:0.6016:0.1924:0.206	.	104	Q8TC56	FA71B_HUMAN	Q	104	ENSP00000305596:R104Q	ENSP00000305596:R104Q	R	-	2	0	FAM71B	156525447	0.000000	0.05858	0.028000	0.17463	0.160000	0.22226	-0.281000	0.08456	0.619000	0.30197	0.563000	0.77884	CGG		0.542	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		T	156592869	C	T	156592869	3	4	221	1	0	0	0	0	1	0	0	0	5608	652	23	2	1514	2	FAM71B	5	156592869	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	15862790	156592869	24322391	33	15371											
RANBP17	64901	broad.mit.edu	37	chr5	170725815	170725815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtggcagaggcgttgCgcagtgatggcaacactgaa	11	7	16	7	2	0	4	0	2	0	2	0	5	0	4	0	3	2	4	0	3	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:170725815C>T	ENST00000523189.1	+	28	3384	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1074					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAGGCGTTGCGCAGTGATGG	0.502			T	TRD@	ALL																																	uc003mba.3				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3220-3222)Cgc>Tgc		Homo sapiens RAN binding protein 17 (RANBP17), mRNA.							129	110	116					5																	170725815		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170725815C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3220C>T	5.37:g.170725815C>T	ENSP00000427975:p.Arg1074Cys					RANBP17_uc003mbb.3_Missense_Mutation_p.R399C|RANBP17_uc010jjs.3_Non-coding_Transcript	p.R1074C	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		27	3362	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1074					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.3220C>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674564	0.47781	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.26810	1.71	5.69	4.83	0.62350	.	0.543666	0.18279	N	0.146090	T	0.34861	0.0912	L	0.40543	1.245	0.45183	D	0.998196	D	0.71674	0.998	P	0.55260	0.772	T	0.08722	-1.0708	10	0.72032	D	0.01	-10.0589	12.9236	0.58247	0.0:0.9243:0.0:0.0757	.	1074	Q9H2T7	RBP17_HUMAN	C	1074;504	ENSP00000427975:R1074C	ENSP00000427975:R1074C	R	+	1	0	RANBP17	170658420	1.000000	0.71417	0.697000	0.30258	0.006000	0.05464	4.255000	0.58804	1.420000	0.47138	-0.126000	0.14955	CGC		0.502	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		T	170725815	C	T	170725815	3	4	221	1	0	0	0	0	1	0	0	0	13027	768	27	1	3330	1	RANBP17	5	170725815	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	14132946	170725815	10189445	34	15372											
FBXW11	23291	broad.mit.edu	37	chr5	171299943	171299943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacaggcaatgccccGcttgtgcccattgagagtac	9	8	12	12	1	0	2	0	1	0	2	0	4	0	2	3	2	3	3	3	2	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:171299943G>A	ENST00000265094.5	-	9	1347	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FBXW11_ENST00000425623.2_Missense_Mutation_p.R372W|FBXW11_ENST00000393802.2_Missense_Mutation_p.R370W|FBXW11_ENST00000296933.6_Missense_Mutation_p.R391W	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	404					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAATGCCCCGCTTGTGCCCA	0.463																																						uc003mbm.1																			0		p.R404Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1210-1212)Cgg>Tgg		Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.							93	81	85					5																	171299943		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171299943G>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1210C>T	5.37:g.171299943G>A	ENSP00000265094:p.Arg404Trp					FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W	p.R404W	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1581	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	404					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.1210C>T	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871284	0.91587	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.998;0.996	T	0.69716	-0.5070	10	0.87932	D	0	-5.4396	19.3046	0.94155	0.0:0.0:1.0:0.0	.	372;370;404;391	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	W	391;404;370;372	ENSP00000296933:R391W;ENSP00000265094:R404W;ENSP00000377391:R370W;ENSP00000444929:R372W	ENSP00000265094:R404W	R	-	1	2	FBXW11	171232548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.897000	0.87356	2.652000	0.90054	0.655000	0.94253	CGG		0.463	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		A	171299943	G	A	171299943	3	1	221	1	0	0	0	0	1	0	0	0	5764	1086	38	1	434	1	FBXW11	5	171299943	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	574128	171299943	9615317	35	15373											
BCLAF1	9774	broad.mit.edu	37	chr6	136597406	136597406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagcaaaacttttaccCtgatctgcgaggactgactt	11	11	9	10	1	1	2	0	2	1	0	1	4	1	3	1	1	4	3	1	1	4	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr6:136597406C>A	ENST00000531224.1	-	5	1509	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q417H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q417H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q417H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q419H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	419					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1255-1257)caG>caT		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.							259	253	255					6																	136597406		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597406C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1257G>T	6.37:g.136597406C>A	ENSP00000435210:p.Gln419His					BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H|BCLAF1_uc003qgw.1_Intron	p.Q419H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1510	-	Colorectal(23;0.24)		419					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1257G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171162	0.57584	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000015	T	0.11623	0.0283	L	0.46157	1.445	0.80722	D	1	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.26310	0.068;0.068;0.068	T	0.02966	-1.1088	10	0.48119	T	0.1	-8.2723	19.2213	0.93797	0.0:1.0:0.0:0.0	.	417;417;419	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	H	419;417;419;417;417;419	ENSP00000435210:Q419H;ENSP00000229446:Q417H;ENSP00000435441:Q419H;ENSP00000434826:Q417H;ENSP00000376159:Q417H;ENSP00000431734:Q419H	ENSP00000229446:Q417H	Q	-	3	2	BCLAF1	136639099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.570000	0.60872	2.615000	0.88500	0.650000	0.86243	CAG		0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136597406	C	A	136597406	3	1	221	1	0	0	0	0	1	0	0	0	1383	680	24	5	1541	5	BCLAF1	6	136597406	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		136597406	34517661	36	15374											
CDK13	8621	broad.mit.edu	37	chr7	40127783	40127783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcgaagaagacagaagCagatgggcatgactgatgat	18	5	13	5	1	0	7	0	3	0	4	0	8	0	7	0	1	2	2	0	1	5	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:40127783C>T	ENST00000181839.4	+	12	3693	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1030*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1030					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGACAGAAGCAGATGGGCAT	0.423																																						uc003thh.4																			0		p.K1029K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3088-3090)Cag>Tag		Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.							89	87	88					7																	40127783		2203	4300	6503	SO:0001587	stop_gained	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40127783C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3088C>T	7.37:g.40127783C>T	ENSP00000181839:p.Gln1030*					CDK13_uc003thi.4_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.3_Nonsense_Mutation_p.Q81*	p.Q1030*	NM_003718	NP_003709	Q14004	CDK13_HUMAN			11	3370	+			1030					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_Mutation	SNP	ENST00000181839.4	37	c.3088C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	42	9.807971	0.99268	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5515	19.9186	0.97074	0.0:1.0:0.0:0.0	.	.	.	.	X	1030	.	.	Q	+	1	0	CDK13	40094308	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.765000	0.85310	2.788000	0.95919	0.585000	0.79938	CAG		0.423	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		T	40127783	C	T	40127783	4	4	221	1	0	0	0	0	0	1	0	0	3129	711	25	3	3134	3	CDK13	7	40127783	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		40127783	119010880	37	15375											
ABCA13	154664	broad.mit.edu	37	chr7	48287917	48287917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatttggactggcaggaaCttgagatgcagctgtcagaa	13	10	12	6	0	1	2	1	1	0	2	1	5	1	4	0	3	3	3	0	3	4	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:48287917C>G	ENST00000435803.1	+	14	1765	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	581					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGCAGGAACTTGAGATGCA	0.428																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1741-1743)Ctt>Gtt		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							89	88	88					7																	48287917		1906	4121	6027	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48287917C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1741C>G	7.37:g.48287917C>G	ENSP00000411096:p.Leu581Val					ABCA13_uc010kyr.2_Missense_Mutation_p.L84V	p.L581V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			13	1765	+			581					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1741C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	5.676	0.309251	0.10733	.	.	ENSG00000179869	ENST00000435803	D	0.88354	-2.37	4.28	-3.11	0.05299	.	0.322570	0.21383	N	0.075439	T	0.74688	0.3749	N	0.17082	0.46	0.09310	N	0.999994	B	0.17465	0.022	B	0.14023	0.01	T	0.61978	-0.6951	10	0.40728	T	0.16	.	7.2419	0.26102	0.3359:0.2146:0.4495:0.0	.	581	Q86UQ4	ABCAD_HUMAN	V	581	ENSP00000411096:L581V	ENSP00000411096:L581V	L	+	1	0	ABCA13	48258463	0.036000	0.19791	0.001000	0.08648	0.038000	0.13279	0.293000	0.19029	-0.270000	0.09285	-0.181000	0.13052	CTT		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48287917	C	G	48287917	3	3	221	1	0	0	0	0	1	0	0	0	31	565	20	5	1624	5	ABCA13	7	48287917	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	8160134	48287917	110850746	38	15376											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	221	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	6933905	55221822	103916841	39	15377											
PSPH	5723	broad.mit.edu	37	chr7	56088826	56088826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcatcgattccttcttctCtgatgaccgtgctgtcaaca	7	14	7	13	2	4	2	2	2	2	0	7	3	5	2	2	0	2	2	2	0	1	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:56088826C>G	ENST00000395471.3	-	4	885	c.80G>C	c.(79-81)aGa>aCa	p.R27T	PSPH_ENST00000275605.3_Missense_Mutation_p.R27T|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	27					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCTTCTTCTCTGATGACCGT	0.448																																						uc003trj.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(166-168)aGa>aCa		Homo sapiens phosphoserine phosphatase (PSPH), mRNA.							132	98	110					7																	56088826		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56088826C>G	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.80G>C	7.37:g.56088826C>G	ENSP00000378854:p.Arg27Thr					PSPH_uc003trh.3_Missense_Mutation_p.R27T|PSPH_uc003tri.3_Missense_Mutation_p.R27T	p.R56T	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		1	482	-	Breast(14;0.214)		27					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.167G>C	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	2.776	-0.254491	0.05829	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	D;D;D;D;D	0.83914	-1.57;-1.57;-1.57;-1.78;-1.78	5.6	4.72	0.59763	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.155391	0.64402	D	0.000020	T	0.66674	0.2813	N	0.12831	0.26	0.48975	D	0.999736	B;B	0.02656	0.0;0.0	B;B	0.14578	0.005;0.011	T	0.59408	-0.7460	10	0.19147	T	0.46	-15.084	9.8776	0.41213	0.0:0.8455:0.0:0.1545	.	27;27	Q53EY1;P78330	.;SERB_HUMAN	T	27	ENSP00000275605:R27T;ENSP00000378854:R27T;ENSP00000398653:R27T;ENSP00000399660:R27T;ENSP00000390952:R27T	ENSP00000275605:R27T	R	-	2	0	PSPH	56056320	0.999000	0.42202	0.998000	0.56505	0.194000	0.23727	1.033000	0.30191	1.387000	0.46486	0.591000	0.81541	AGA		0.448	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		G	56088826	C	G	56088826	3	3	221	1	0	0	0	0	1	0	0	0	12717	913	32	5	617	5	PSPH	7	56088826	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	867004	56088826	103049837	40	15378											
ZNF735	0	broad.mit.edu	37	chr7	63680236	63680236	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactggagagaaaccctaCgcatgtgaagaatgtggcca	14	6	11	10	1	0	3	0	1	0	2	0	5	0	4	2	2	2	1	2	2	4	1	rs374391910		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:63680236C>T								GUSBP6 (69137 upstream) : ZNF679 (8615 downstream)																							AGAAACCCTACGCATGTGAAG	0.458													.|||	1	0.000199681	8e-04	0	5008	,	,		19566	0		0	False		,,,				2504	0					uc011kdn.2																			0											c.(805-807)taC>taT		Homo sapiens zinc finger protein 735 (ZNF735), mRNA.		C		0,1384		0,0,692	20	20	20		807	-1.6	0.2	7		20	1,3181		0,1,1590	no	coding-synonymous	ZNF735	NM_001159524.1		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		269/413	63680236	1,4565	692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680236C>T																													7.37:g.63680236C>T							p.Y269Y	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			3	807	+			269						Silent	SNP		37	c.807C>T																																																																																				0	0.458									T	63680236	C	T	63680236	1	4	221	0	1	0	0	0	0	0	0	0	18121	547	19	1		1	ZNF735	7	63680236	IGR	SNP	C	TCGA-32-1970-01A-01D-1494-08	7591410	63680236	95458427	41	15379											
ZNF107	51427	broad.mit.edu	37	chr7	64167281	64167281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcaaggcctttaaacaggCctcacaccttactatacata	13	10	6	12	0	1	0	1	0	0	0	1	0	1	0	3	3	3	1	3	3	7	6	rs201135722		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:64167281C>A	ENST00000395391.1	+	4	1974	c.599C>A	c.(598-600)gCc>gAc	p.A200D	ZNF107_ENST00000423627.1_Missense_Mutation_p.A200D|ZNF107_ENST00000344930.3_Missense_Mutation_p.A200D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTAAACAGGCCTCACACCTT	0.373																																						uc003ttd.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(598-600)gCc>gAc		Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.							38	42	41					7																	64167281		2201	4297	6498	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167281C>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.599C>A	7.37:g.64167281C>A	ENSP00000378789:p.Ala200Asp					ZNF107_uc003tte.3_Missense_Mutation_p.A200D	p.A200D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			6	1385	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	200						Missense_Mutation	SNP	ENST00000395391.1	37	c.599C>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	2.125	-0.400438	0.04865	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.15718	2.4;2.4;2.4	1.4	-2.79	0.05841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	L	0.37561	1.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38200	-0.9672	8	.	.	.	.	0.5267	0.00621	0.3871:0.2476:0.1934:0.172	.	200	Q9UII5	ZN107_HUMAN	D	200	ENSP00000343443:A200D;ENSP00000400037:A200D;ENSP00000378789:A200D	.	A	+	2	0	ZNF107	63804716	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-3.875000	0.00345	-1.108000	0.03000	-1.721000	0.00707	GCC		0.373	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		A	64167281	C	A	64167281	3	1	221	1	0	0	0	0	1	0	0	0	17712	739	26	5	605	5	ZNF107	7	64167281	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	487045	64167281	94971382	42	15380											
MAGI2	9863	broad.mit.edu	37	chr7	77807399	77807399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcctccgaagatgaacatCcaattccttataatctggac	13	11	5	12	1	1	2	0	1	1	1	5	4	5	3	4	1	1	0	4	1	5	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:77807399C>T	ENST00000354212.4	-	14	2585	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	MAGI2_ENST00000522391.1_Missense_Mutation_p.D778N|MAGI2_ENST00000419488.1_Missense_Mutation_p.D764N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	778	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGATGAACATCCAATTCCTTA	0.453																																						uc003ugx.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2332-2334)Gat>Aat		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.							86	81	83					7																	77807399		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77807399C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2332G>A	7.37:g.77807399C>T	ENSP00000346151:p.Asp778Asn					MAGI2_uc003ugy.3_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	p.D778N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			13	2586	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	778			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2332G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258460	0.95368	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.41758	0.99;1.11;1.11	5.77	5.77	0.91146	PDZ/DHR/GLGF (2);	0.000000	0.37577	U	0.002025	T	0.48960	0.1529	N	0.11698	0.16	0.80722	D	1	P;D;D	0.69078	0.896;0.997;0.98	P;D;P	0.66979	0.596;0.948;0.721	T	0.56932	-0.7897	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	778;764;778	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	764;778;778;778	ENSP00000405766:D764N;ENSP00000346151:D778N;ENSP00000428389:D778N	ENSP00000346151:D778N	D	-	1	0	MAGI2	77645335	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.727000	0.93392	0.650000	0.86243	GAT		0.453	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77807399	C	T	77807399	3	4	221	1	0	0	0	0	1	0	0	0	9191	855	30	3	2071	3	MAGI2	7	77807399	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	13640118	77807399	81331264	43	15381											
PCLO	27445	broad.mit.edu	37	chr7	82582560	82582560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggatttggaaaatcttGgtgaagacttgttggagtgt	10	14	15	2	0	1	3	0	2	1	1	1	6	1	6	0	4	0	1	0	4	3	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:82582560G>A	ENST00000333891.9	-	5	8046	c.7709C>T	c.(7708-7710)cCa>cTa	p.P2570L	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.P2570L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAAATCTTGGTGAAGACTT	0.403																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7708-7710)cCa>cTa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							119	116	117					7																	82582560		1843	4097	5940	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582560G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7709C>T	7.37:g.82582560G>A	ENSP00000334319:p.Pro2570Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.3_5'Flank	p.P2570L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	7998	-			2501						Missense_Mutation	SNP	ENST00000333891.9	37	c.7709C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	7.198	0.592941	0.13875	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19250	2.16;2.17	4.66	4.66	0.58398	.	.	.	.	.	T	0.42040	0.1185	M	0.63843	1.955	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.61070	0.883;0.883	T	0.42224	-0.9464	9	0.87932	D	0	.	17.5217	0.87789	0.0:0.0:1.0:0.0	.	2570;2570	Q9Y6V0-5;Q9Y6V0-6	.;.	L	2501;2570;2570	ENSP00000334319:P2570L;ENSP00000388393:P2570L	ENSP00000334319:P2570L	P	-	2	0	PCLO	82420496	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	9.441000	0.97557	2.147000	0.66899	0.484000	0.47621	CCA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82582560	G	A	82582560	3	1	221	1	0	0	0	0	1	0	0	0	11583	1348	47	3	7820	3	PCLO	7	82582560	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	4775161	82582560	76556103	44	15382											
GRM3	2913	broad.mit.edu	37	chr7	86416220	86416220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaacgcaaccacaggcGcgtctgcgacaagcacctgg	13	3	11	14	4	1	0	0	0	1	0	1	2	1	0	2	2	5	2	2	2	4	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416220G>A	ENST00000361669.2	+	3	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R243H|GRM3_ENST00000394720.2_Missense_Mutation_p.R369H|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R371H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	371					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AACCACAGGCGCGTCTGCGAC	0.567																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1111-1113)cGc>cAc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						100	84	90					7																	86416220		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416220G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1112G>A	7.37:g.86416220G>A	ENSP00000355316:p.Arg371His					GRM3_uc010lef.3_Missense_Mutation_p.R369H|GRM3_uc010leg.3_Missense_Mutation_p.R243H|GRM3_uc010leh.3_Intron	p.R371H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	2211	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		371					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1112G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836349	0.50951	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.93	4.1	0.47936	Extracellular ligand-binding receptor (1);	0.305751	0.35772	N	0.002988	T	0.78000	0.4215	L	0.34521	1.04	0.23282	N	0.997985	B;B;B	0.28584	0.216;0.045;0.002	B;B;B	0.26094	0.066;0.013;0.005	T	0.70303	-0.4909	10	0.72032	D	0.01	.	5.7469	0.18124	0.3442:0.0:0.6557:0.0	.	243;371;371	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	371;243;371;369	ENSP00000355316:R371H;ENSP00000441407:R243H;ENSP00000398767:R371H;ENSP00000378209:R369H	ENSP00000355316:R371H	R	+	2	0	GRM3	86254156	0.997000	0.39634	0.874000	0.34290	0.987000	0.75469	3.095000	0.50235	1.480000	0.48289	0.655000	0.94253	CGC		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86416220	G	A	86416220	3	1	221	1	0	0	0	0	1	0	0	0	6798	1087	38	1	1118	1	GRM3	7	86416220	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	3833660	86416220	72722443	45	15383											
GRM3	2913	broad.mit.edu	37	chr7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctttgcacaaaatgcagcGcaccctctgtcccaacacta	11	8	6	16	2	1	0	0	0	1	0	2	0	2	0	2	0	4	4	2	0	4	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416334G>A	ENST00000361669.2	+	3	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R281H|GRM3_ENST00000394720.2_Missense_Mutation_p.R407H|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R409H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	409					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AAAATGCAGCGCACCCTCTGT	0.498																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1225-1227)cGc>cAc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						187	163	171					7																	86416334		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416334G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1226G>A	7.37:g.86416334G>A	ENSP00000355316:p.Arg409His					GRM3_uc010lef.3_Missense_Mutation_p.R407H|GRM3_uc010leg.3_Missense_Mutation_p.R281H|GRM3_uc010leh.3_Intron	p.R409H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	2325	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		409					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1226G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184061	0.57800	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	L	0.37750	1.13	0.80722	D	1	B;B;B	0.28439	0.022;0.212;0.06	B;B;B	0.21708	0.007;0.036;0.027	T	0.74365	-0.3689	10	0.20046	T	0.44	.	18.9941	0.92806	0.0:0.0:1.0:0.0	.	281;409;409	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	409;281;409;407	ENSP00000355316:R409H;ENSP00000441407:R281H;ENSP00000398767:R409H;ENSP00000378209:R407H	ENSP00000355316:R409H	R	+	2	0	GRM3	86254270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.672000	0.68102	2.720000	0.93068	0.655000	0.94253	CGC		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86416334	G	A	86416334	3	1	221	1	0	0	0	0	1	0	0	0	6798	1087	38	1	1232	1	GRM3	7	86416334	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	114	86416334	72722329	46	15384											
GRM3	2913	broad.mit.edu	37	chr7	86468918	86468918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcatctgcctgggtctgatCctggtgcaaattgtgatggt	6	15	12	8	0	3	2	1	2	2	0	4	2	4	2	2	3	2	1	2	3	1	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86468918C>T	ENST00000361669.2	+	4	3187	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	GRM3_ENST00000546348.1_Silent_p.I288I|GRM3_ENST00000536043.1_Silent_p.I568I|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	696					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGGGTCTGATCCTGGTGCAAA	0.527																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0		p.I696T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2086-2088)atC>atT		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						76	74	75					7																	86468918		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468918C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2088C>T	7.37:g.86468918C>T						GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I568I|GRM3_uc010leh.3_Silent_p.I288I	p.I696I	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	3187	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		696					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2088C>T	CCDS5600.1																																																																																				0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86468918	C	T	86468918	2	4	221	1	0	0	0	0	0	0	0	1	6798	845	30	3		3	GRM3	7	86468918	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	52584	86468918	72669745	47	15385											
STEAP1	26872	broad.mit.edu	37	chr7	89791325	89791325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattggcaatactggctcTgttggctgtgacatctattc	7	14	12	8	0	2	1	0	1	2	0	3	2	2	2	0	4	1	4	0	4	3	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:89791325T>C	ENST00000297205.2	+	4	895	c.695T>C	c.(694-696)cTg>cCg	p.L232P	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	232	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATACTGGCTCTGTTGGCTGTG	0.378																																						uc003ujx.3																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(694-696)cTg>cCg		Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.							192	168	176					7																	89791325		2203	4300	6503	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89791325T>C	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.695T>C	7.37:g.89791325T>C	ENSP00000297205:p.Leu232Pro					STEAP1_uc010lem.3_Missense_Mutation_p.L232P	p.L232P	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			3	895	+	all_hematologic(106;0.112)		232			Ferric oxidoreductase.		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.695T>C	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261803	0.80358	.	.	ENSG00000164647	ENST00000297205	D	0.92965	-3.14	5.61	5.61	0.85477	Flavoprotein transmembrane component (1);	0.113233	0.38381	N	0.001708	D	0.95862	0.8653	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.96368	0.9271	10	0.87932	D	0	-2.7554	15.8023	0.78463	0.0:0.0:0.0:1.0	.	232;232	B4E221;Q9UHE8	.;STEA1_HUMAN	P	232	ENSP00000297205:L232P	ENSP00000297205:L232P	L	+	2	0	STEAP1	89629261	0.952000	0.32445	0.967000	0.41034	0.879000	0.50718	7.345000	0.79337	2.133000	0.65898	0.533000	0.62120	CTG		0.378	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		C	89791325	T	C	89791325	3	2	221	1	0	0	0	0	1	0	0	0	15276	1580	55	4	705	4	STEAP1	7	89791325	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08	3322407	89791325	69347338	48	15386											
TRPV5	56302	broad.mit.edu	37	chr7	142611855	142611855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccatcagccagcagaaacGcattaggtctccaaaaatca	16	6	7	12	1	3	1	2	0	1	1	4	1	3	1	3	1	4	2	3	1	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:142611855G>A	ENST00000265310.1	-	12	1822	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	492					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCAGAAACGCATTAGGTCT	0.463																																						uc003wby.1																			0		p.R492H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1474-1476)Cgt>Tgt		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							80	69	73					7																	142611855		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142611855G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1474C>T	7.37:g.142611855G>A	ENSP00000265310:p.Arg492Cys						p.R492C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			11	1738	-	Melanoma(164;0.059)		492					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1474C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054270	0.75960	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.91894	-2.93;-2.93	5.24	4.34	0.51931	Ion transport (1);	0.061929	0.64402	D	0.000005	D	0.96106	0.8731	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.96415	0.9307	10	0.87932	D	0	-9.6578	12.413	0.55478	0.0:0.0:0.6946:0.3054	.	492	Q9NQA5	TRPV5_HUMAN	C	492;437	ENSP00000265310:R492C;ENSP00000406361:R437C	ENSP00000265310:R492C	R	-	1	0	TRPV5	142321977	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.652000	0.61454	1.308000	0.44962	0.655000	0.94253	CGT		0.463	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142611855	G	A	142611855	3	1	221	1	0	0	0	0	1	0	0	0	16596	1087	38	1	731	1	TRPV5	7	142611855	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	52820530	142611855	16526808	49	15387											
GATA4	2626	broad.mit.edu	37	chr8	11607623	11607623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgtcttgcagtccGcctcccgccgagtgggcctc	2	12	11	16	3	1	0	0	0	1	0	5	1	4	0	6	1	1	2	6	1	0	2	rs201520087		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:11607623G>A	ENST00000335135.4	+	4	1345	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	GATA4_ENST00000528712.1_Missense_Mutation_p.A57T|GATA4_ENST00000532059.1_Missense_Mutation_p.A264T	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	263					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTTGCAGTCCGCCTCCCGCCG	0.637																																						uc011kxc.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(790-792)Gcc>Acc		Homo sapiens GATA binding protein 4 (GATA4), mRNA.							51	50	50					8																	11607623		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607623G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.787G>A	8.37:g.11607623G>A	ENSP00000334458:p.Ala263Thr					GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc003wuc.2_Missense_Mutation_p.A263T	p.A264T	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	2	1247	+	all_epithelial(15;0.0839)		263					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.790G>A	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055924	0.93793	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.38	5.38	0.77491	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.64402	D	0.000002	D	0.98592	0.9529	L	0.37466	1.105	0.80722	D	1	P;P	0.48694	0.767;0.914	B;B	0.38106	0.253;0.265	D	0.99905	1.1176	10	0.62326	D	0.03	-8.3538	18.1495	0.89669	0.0:0.0:1.0:0.0	.	264;263	B7ZKZ4;P43694	.;GATA4_HUMAN	T	57;57;263;262;264	ENSP00000435043:A57T;ENSP00000435347:A57T;ENSP00000334458:A263T;ENSP00000435712:A264T	ENSP00000259090:A262T	A	+	1	0	GATA4	11645032	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	9.640000	0.98453	2.507000	0.84556	0.655000	0.94253	GCC		0.637	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		A	11607623	G	A	11607623	3	1	221	1	0	0	0	0	1	0	0	0	6256	1087	38	1	797	1	GATA4	8	11607623	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		11607623	134756399	50	15388											
ENPP2	5168	broad.mit.edu	37	chr8	120629759	120629759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcatgtatgatgcaCggaagccatccacggagaag	11	10	10	10	2	2	2	1	1	1	1	3	4	3	3	2	2	2	2	2	2	3	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:120629759C>T	ENST00000075322.6	-	6	582	c.524G>A	c.(523-525)cGt>cAt	p.R175H	ENPP2_ENST00000259486.6_Missense_Mutation_p.R175H|ENPP2_ENST00000522826.1_Missense_Mutation_p.R175H|ENPP2_ENST00000427067.2_Missense_Mutation_p.R171H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	175					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGATGCACGGAAGCCATC	0.373																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(523-525)cGt>cAt		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							74	70	71					8																	120629759		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120629759C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.524G>A	8.37:g.120629759C>T	ENSP00000075322:p.Arg175His					ENPP2_uc010mdd.2_Missense_Mutation_p.R175H|ENPP2_uc003yot.2_Missense_Mutation_p.R175H	p.R175H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	610	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		175					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.524G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457265	0.96223	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87923	0.2705	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	175;175;175	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	H	175;171;175;175;157	ENSP00000259486:R175H;ENSP00000403315:R171H;ENSP00000428291:R175H;ENSP00000075322:R175H;ENSP00000428304:R157H	ENSP00000075322:R175H	R	-	2	0	ENPP2	120698940	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CGT		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120629759	C	T	120629759	3	4	221	1	0	0	0	0	1	0	0	0	5130	536	19	1	2386	1	ENPP2	8	120629759	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	109022136	120629759	25734263	51	15389											
BAI1	575	broad.mit.edu	37	chr8	143625027	143625027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccggaagctgcagcaCgcagcggagaaggacaagga	14	2	15	10	3	0	2	0	1	0	1	0	6	0	5	1	4	5	4	1	4	4	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:143625027C>T	ENST00000517894.1	+	30	5409	c.4515C>T	c.(4513-4515)caC>caT	p.H1505H	BAI1_ENST00000323289.5_Silent_p.H1505H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1505	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGCAGCACGCAGCGGAGA	0.662																																						uc003ywm.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(4513-4515)caC>caT		Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.							25	30	28					8																	143625027		2036	4165	6201	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143625027C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4515C>T	8.37:g.143625027C>T							p.H1505H	NM_001702	NP_001693	O14514	BAI1_HUMAN			28	4698	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1505			Necessary for interaction with MAGI1.			Silent	SNP	ENST00000517894.1	37	c.4515C>T																																																																																					0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143625027	C	T	143625027	2	4	221	1	0	0	0	0	0	0	0	1	1298	535	19	1		1	BAI1	8	143625027	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	22995268	143625027	2738995	52	15390											
LOC645961	645961	broad.mit.edu	37	chr9	90746228	90746228	+	IGR	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatgtgggctttcaggAtgttttctatatgattcctc	6	18	9	8	0	3	1	2	1	1	0	5	2	4	2	1	2	1	3	1	2	2	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:90746228A>T								U6 (132978 upstream) : U3 (242955 downstream)																							GGCTTTCAGGATGTTTTCTAT	0.522																																						uc011lti.2																			0											c.(1723-1725)aTc>aAc		Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.							22	20	20					9																	90746228		692	1591	2283	SO:0001628	intergenic_variant	645961							g.chr9:90746228A>T																													9.37:g.90746228A>T							p.I575N	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN			3	1753	-			575						Missense_Mutation	SNP		37	c.1724T>A																																																																																				0	0.522									T	90746228	A	T	90746228	1	4	221	0	1	0	0	0	0	0	0	0	8883	333	12	5		5	LOC645961	9	90746228	IGR	SNP	A	TCGA-32-1970-01A-01D-1494-08		90746228	50467203	53	15391											
OR13C9	286362	broad.mit.edu	37	chr9	107379553	107379553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctaaagaaccttctgttCggtaggtgttttactgcctc	7	16	9	9	1	1	1	0	0	1	1	3	1	1	1	2	2	4	4	2	2	5	7			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:107379553C>T	ENST00000259362.1	-	1	932	c.933G>A	c.(931-933)ccG>ccA	p.P311P		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACCTTCTGTTCGGTAGGTGTT	0.353																																						uc011lvr.2																			0		p.L310I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(931-933)ccG>ccA		Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.							180	175	176					9																	107379553		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379553C>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.933G>A	9.37:g.107379553C>T							p.P311P	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			0	933	-			311					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.933G>A	CCDS35093.1																																																																																				0.353	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			T	107379553	C	T	107379553	2	4	221	1	0	0	0	0	0	0	0	1	10939	871	31	2		2	OR13C9	9	107379553	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	16633325	107379553	33833878	54	15392											
BAT2L1	84726	broad.mit.edu	37	chr9	134350722	134350722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcccggggccggggccGtggtttcagagagttcactt	6	8	16	11	3	2	1	2	0	0	1	2	2	2	1	3	6	0	2	3	6	0	3	rs377155180		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:134350722G>A	ENST00000357304.4	+	15	3261	c.3206G>A	c.(3205-3207)cGt>cAt	p.R1069H	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1069							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGCCGGGGCCGTGGTTTCAGA	0.612																																						uc004can.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3205-3207)cGt>cAt		Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.		G	HIS/ARG	1,3711		0,1,1855	20	24	23		3206	6.2	1	9		23	0,8174		0,0,4087	no	missense	PRRC2B	NM_013318.3	29	0,1,5942	AA,AG,GG		0.0,0.0269,0.0084	probably-damaging	1069/2230	134350722	1,11885	1856	4087	5943	SO:0001583	missense	84726						protein binding	g.chr9:134350722G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3206G>A	9.37:g.134350722G>A	ENSP00000349856:p.Arg1069His					PRRC2B_uc010mzj.1_Missense_Mutation_p.R652H|PRRC2B_uc004cao.4_Missense_Mutation_p.R427H	p.R1069H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			14	3261	+			1069					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3206G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956910	0.92726	2.69E-4	0.0	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.28454	1.61	6.17	6.17	0.99709	.	.	.	.	.	T	0.56877	0.2015	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.46803	-0.9165	8	.	.	.	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	365;1069	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	H	1069;365	ENSP00000349856:R1069H	.	R	+	2	0	PRRC2B	133340543	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	7.608000	0.82898	2.941000	0.99782	0.655000	0.94253	CGT		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134350722	G	A	134350722	3	1	221	1	0	0	0	0	1	0	0	0	1320	1145	40	1	3264	1	BAT2L1	9	134350722	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	26971169	134350722	6862709	55	15393											
CEL	1056	broad.mit.edu	37	chr9	135945963	135945963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttttcgggaagcccttcGccacccccacgggctaccgg	6	7	11	17	5	0	0	0	0	0	0	2	1	0	1	5	3	2	2	5	3	2	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:135945963G>A	ENST00000372080.4	+	10	1427	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	468					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGCCCTTCGCCACCCCCAC	0.582																																						uc010naa.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1411-1413)Gcc>Acc		Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.							89	99	96					9																	135945963		1977	4140	6117	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135945963G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1411G>A	9.37:g.135945963G>A	ENSP00000361151:p.Ala471Thr						p.A471T	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	9	1427	+			468					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1411G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146630	0.09134	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.58506	0.33	5.69	2.7	0.31948	Carboxylesterase, type B (1);	0.512701	0.22331	N	0.061479	T	0.28532	0.0706	N	0.10809	0.05	0.09310	N	0.999999	P	0.41041	0.736	B	0.30572	0.117	T	0.14559	-1.0468	10	0.17369	T	0.5	.	9.5212	0.39135	0.0:0.2597:0.4721:0.2682	.	468	P19835	CEL_HUMAN	T	471;470	ENSP00000361151:A471T	ENSP00000304021:A470T	A	+	1	0	CEL	134935784	0.006000	0.16342	0.003000	0.11579	0.104000	0.19210	0.485000	0.22324	0.280000	0.22209	0.472000	0.43445	GCC		0.582	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			A	135945963	G	A	135945963	3	1	221	1	0	0	0	0	1	0	0	0	3209	1087	38	1	1449	1	CEL	9	135945963	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	1595241	135945963	5267468	56	15394											
ITIH5	80760	broad.mit.edu	37	chr10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgtcaatcagtttggcgGcattgttcctggcaaaccag	8	10	10	13	2	2	0	2	0	0	0	3	0	3	0	4	3	1	4	4	3	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522																																						uc021pmv.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2731-2733)gCc>gTc		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.							194	155	168					10																	7605143		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605143G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2732C>T	10.37:g.7605143G>A	ENSP00000256861:p.Ala911Val					ITIH5_uc021pmu.1_Missense_Mutation_p.A697V	p.A911V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			13	2838	-			911					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2732C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191492	0.94923	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02280	4.56;4.36;4.38	5.79	5.79	0.91817	.	0.103793	0.64402	D	0.000002	T	0.13670	0.0331	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.929;0.968	T	0.00025	-1.2315	9	0.72032	D	0.01	-26.4128	20.0275	0.97527	0.0:0.0:1.0:0.0	.	911;697	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	911;697;693	ENSP00000256861:A911V;ENSP00000298441:A697V;ENSP00000387969:A693V	ENSP00000256861:A911V	A	-	2	0	ITIH5	7645149	1.000000	0.71417	0.905000	0.35620	0.802000	0.45316	9.282000	0.95840	2.737000	0.93849	0.650000	0.86243	GCC		0.522	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		A	7605143	G	A	7605143	3	1	221	1	0	0	0	0	1	0	0	0	7907	1203	42	3	142	3	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		7605143	127929604	57	15395											
ITIH5	80760	broad.mit.edu	37	chr10	7659109	7659109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctgttctctattgacGtcatatctaatgataaagtc	11	16	6	8	1	4	2	1	2	3	0	6	2	4	2	0	0	1	2	0	0	5	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7659109G>T	ENST00000256861.6	-	6	867	c.789C>A	c.(787-789)gaC>gaA	p.D263E	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.D263E|ITIH5_ENST00000446830.2_Missense_Mutation_p.D45E|ITIH5_ENST00000298441.6_Missense_Mutation_p.D49E|ITIH5_ENST00000397145.2_Missense_Mutation_p.D263E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	263					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTATTGACGTCATATCTAA	0.388																																						uc021pmv.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(787-789)gaC>gaA		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.							195	176	182					10																	7659109		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7659109G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.789C>A	10.37:g.7659109G>T	ENSP00000256861:p.Asp263Glu					ITIH5_uc021pmu.1_Missense_Mutation_p.D49E|ITIH5_uc001ijr.2_Missense_Mutation_p.D263E	p.D263E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			5	895	-			263					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.789C>A		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420845	0.42918	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.81	0.758	0.18432	.	0.045684	0.85682	D	0.000000	D	0.85948	0.5816	.	.	.	0.39361	D	0.965929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.985;1.0	D	0.84937	0.0863	9	0.72032	D	0.01	-25.327	10.3157	0.43736	0.6705:0.0:0.3295:0.0	.	263;263;49	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	E	263;263;49;45;263	ENSP00000256861:D263E;ENSP00000380333:D263E;ENSP00000298441:D49E;ENSP00000387969:D45E;ENSP00000380332:D263E	ENSP00000256861:D263E	D	-	3	2	ITIH5	7699115	0.995000	0.38212	0.955000	0.39395	0.234000	0.25298	0.518000	0.22847	-0.114000	0.11936	-1.215000	0.01618	GAC		0.388	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7659109	G	T	7659109	3	4	221	1	0	0	0	0	1	0	0	0	7907	1136	40	5	2198	5	ITIH5	10	7659109	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	53966	7659109	127875638	58	15396											
CYP2C18	1562	broad.mit.edu	37	chr10	96447617	96447617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcagtgaaggaggccCtgattgatcatggagaggag	13	7	16	5	0	1	5	1	4	0	1	1	8	1	7	1	4	1	1	1	4	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:96447617C>T	ENST00000285979.6	+	2	458	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	CYP2C18_ENST00000339022.5_Silent_p.L87L	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	87					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAAGGAGGCCCTGATTGATCA	0.433																																						uc001kjv.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(259-261)Ctg>Ttg		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						260	249	253					10																	96447617		2203	4300	6503	SO:0001819	synonymous_variant	1562				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96447617C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.259C>T	10.37:g.96447617C>T						CYP2C19_uc001kjw.4_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	p.L87L	NM_000772	NP_000763	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	1	585	+		Colorectal(252;0.09)	87					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.259C>T	CCDS7435.1																																																																																				0.433	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		T	96447617	C	T	96447617	2	4	221	1	0	0	0	0	0	0	0	1	4165	680	24	3		3	CYP2C18	10	96447617	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	88788508	96447617	39087130	59	15397											
SOX6	55553	broad.mit.edu	37	chr11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcaacaatgcaggtgCgtttcggtcggggtttgtat	7	13	13	8	3	1	0	1	0	0	0	3	0	1	0	1	4	4	4	1	4	3	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:16007846C>T	ENST00000352083.6	-	15	2164	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SOX6_ENST00000527619.1_Missense_Mutation_p.R672H|SOX6_ENST00000528429.1_Missense_Mutation_p.R696H|SOX6_ENST00000316399.6_Missense_Mutation_p.R676H|SOX6_ENST00000528252.1_Missense_Mutation_p.R669H|SOX6_ENST00000396356.3_Missense_Mutation_p.R676H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	696					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AATGCAGGTGCGTTTCGGTCG	0.473																																						uc001mme.3																			0		p.G708V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2125-2127)cGc>cAc		Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.							211	201	204					11																	16007846		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007846C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2087G>A	11.37:g.16007846C>T	ENSP00000339876:p.Arg696His					SOX6_uc001mmd.3_Missense_Mutation_p.R672H|SOX6_uc001mmf.3_Missense_Mutation_p.R669H|SOX6_uc001mmg.3_Missense_Mutation_p.R676H	p.R709H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			14	2159	-			696					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2126G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.117344	0.94385	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.6	5.6	0.85130	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.993	T	0.81965	-0.0691	10	0.87932	D	0	.	19.6107	0.95606	0.0:1.0:0.0:0.0	.	676;696;672	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	676;696;676;669;672;696	ENSP00000324948:R676H;ENSP00000339876:R696H;ENSP00000379644:R676H;ENSP00000432134:R669H;ENSP00000434455:R672H;ENSP00000433233:R696H	ENSP00000324948:R676H	R	-	2	0	SOX6	15964422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.648000	0.89879	0.655000	0.94253	CGC		0.473	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		T	16007846	C	T	16007846	3	4	221	1	0	0	0	0	1	0	0	0	14955	768	27	1	407	1	SOX6	11	16007846	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		16007846	118998670	60	15398											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158842	18158842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaccctgagcttcacGgggctgacgtgcatcgtttc	8	9	12	12	3	1	3	1	2	0	1	3	3	1	3	1	2	3	5	1	2	1	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:18158842G>A	ENST00000396275.2	+	3	454	c.93G>A	c.(91-93)acG>acA	p.T31T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAGCTTCACGGGGCTGACGT	0.567																																						uc021qek.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(91-93)acG>acA		Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.							164	159	160					11																	18158842		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158842G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.93G>A	11.37:g.18158842G>A						MRGPRX3_uc001mnu.3_Silent_p.T31T	p.T31T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			0	93	+			31					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.93G>A	CCDS7830.1																																																																																				0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18158842	G	A	18158842	2	1	221	1	0	0	0	0	0	0	0	1	9768	1103	39	2		2	MRGPRX3	11	18158842	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	2150996	18158842	116847674	61	15399											
MYBPC3	4607	broad.mit.edu	37	chr11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaccgtgaagatgctgCggtccttggtggtctccacg	5	10	13	13	4	1	2	0	1	1	1	4	3	2	2	4	3	2	1	4	3	1	1	rs534345197		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:47360181C>T	ENST00000545968.1	-	23	2252	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	733	Ig-like C2-type 5.		R -> C (in CMH4). {ECO:0000269|PubMed:15519027}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632													C|||	1	0.000199681	0	0	5008	,	,		17879	0		0.001	False		,,,				2504	0					uc021qis.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2197-2199)cGc>cAc		Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.							75	75	75					11																	47360181		2074	4190	6264	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360181C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2198G>A	11.37:g.47360181C>T	ENSP00000442795:p.Arg733His					MYBPC3_uc021qir.1_Missense_Mutation_p.R385H|MYBPC3_uc010rhl.2_Non-coding_Transcript	p.R733H	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2253	-			732			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2198G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789362	0.31685	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37046	0.0989	N	0.02865	-0.47	0.45777	D	0.998665	B	0.10296	0.003	B	0.10450	0.005	T	0.35798	-0.9774	9	0.15066	T	0.55	.	7.0416	0.25023	0.0:0.7913:0.0:0.2087	.	732	Q14896	MYPC3_HUMAN	H	733;733;732	ENSP00000442795:R733H;ENSP00000382193:R733H;ENSP00000256993:R732H	ENSP00000256993:R732H	R	-	2	0	MYBPC3	47316757	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.074000	0.50065	2.536000	0.85505	0.563000	0.77884	CGC		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			T	47360181	C	T	47360181	3	4	221	1	0	0	0	0	1	0	0	0	10013	768	27	1	1674	1	MYBPC3	11	47360181	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	29201339	47360181	87646335	62	15400											
OR4B1	119765	broad.mit.edu	37	chr11	48238965	48238965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattgtgttggccaacagtGgattattctctgtcttctcc	6	18	8	9	0	3	0	0	0	3	0	5	1	3	1	2	2	1	1	2	2	3	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:48238965G>A	ENST00000309562.2	+	1	622	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCAACAGTGGATTATTCTC	0.473																																						uc010rhs.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(604-606)Gga>Aga		Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.							193	156	169					11																	48238965		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238965G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.604G>A	11.37:g.48238965G>A	ENSP00000311605:p.Gly202Arg						p.G202R	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			0	604	+			202					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.604G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728186	0.48833	.	.	ENSG00000175619	ENST00000309562	T	0.38401	1.14	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.68851	0.3046	H	0.95574	3.69	0.40309	D	0.978697	D	0.89917	1.0	D	0.97110	1.0	T	0.77584	-0.2533	10	0.87932	D	0	.	10.4263	0.44380	0.0886:0.0:0.9114:0.0	.	202	Q8NGF8	OR4B1_HUMAN	R	202	ENSP00000311605:G202R	ENSP00000311605:G202R	G	+	1	0	OR4B1	48195541	1.000000	0.71417	0.996000	0.52242	0.079000	0.17450	1.085000	0.30840	2.599000	0.87857	0.508000	0.49915	GGA		0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		A	48238965	G	A	48238965	3	1	221	1	0	0	0	0	1	0	0	0	11044	1349	47	3	606	3	OR4B1	11	48238965	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	878784	48238965	86767551	63	15401											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235097	57235097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctcccgcctcggcctGcctcctgctgatgctcctgg	3	9	10	19	2	0	1	0	1	0	0	4	1	3	1	6	2	4	3	6	2	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57235097G>C	ENST00000533205.1	+	2	56	c.47G>C	c.(46-48)tGc>tCc	p.C16S	RTN4RL2_ENST00000335099.3_Missense_Mutation_p.C16S|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.C16S					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCTCGGCCTGCCTCCTGCTG	0.682																																						uc010rjt.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(46-48)tGc>tCc		Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.							68	70	70					11																	57235097		2201	4296	6497	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235097G>C	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.47G>C	11.37:g.57235097G>C	ENSP00000435606:p.Cys16Ser						p.C16S	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			1	47	+			16						Missense_Mutation	SNP	ENST00000533205.1	37	c.47G>C		.	.	.	.	.	.	.	.	.	.	G	13.86	2.362342	0.41902	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;T;T	0.66460	0.06;-0.2;-0.21	4.96	4.96	0.65561	.	0.318741	0.22396	N	0.060616	T	0.61788	0.2375	M	0.66297	2.02	0.25725	N	0.985332	B	0.14012	0.009	B	0.06405	0.002	T	0.53500	-0.8430	10	0.40728	T	0.16	.	9.2638	0.37627	0.0:0.2553:0.6016:0.143	.	16	Q86UN3	R4RL2_HUMAN	S	16	ENSP00000335397:C16S;ENSP00000435606:C16S;ENSP00000378552:C16S	ENSP00000335397:C16S	C	+	2	0	RTN4RL2	56991673	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.986000	0.70563	2.471000	0.83476	0.561000	0.74099	TGC		0.682	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		C	57235097	G	C	57235097	3	2	221	1	0	0	0	0	1	0	0	0	13732	1319	46	5	53	5	RTN4RL2	11	57235097	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	8996132	57235097	77771419	64	15402											
OR1S1	219959	broad.mit.edu	37	chr11	57982381	57982381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcactgtgattgggaaCgggctcatcattgtggctat	7	13	13	8	1	3	1	3	1	0	0	3	2	3	2	0	4	1	2	0	4	2	3	rs199668390		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57982381C>T	ENST00000309433.6	+	1	165	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGATTGGGAACGGGCTCATCA	0.443																																						uc010rkc.2																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(163-165)aaC>aaT		Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.							328	301	310					11																	57982381		2201	4296	6497	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982381C>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.165C>T	11.37:g.57982381C>T							p.N55N	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			0	165	+		Breast(21;0.0589)	55					Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.165C>T	CCDS31546.1																																																																																				0.443	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		T	57982381	C	T	57982381	2	4	221	1	0	0	0	0	0	0	0	1	10972	535	19	1		1	OR1S1	11	57982381	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	747284	57982381	77024135	65	15403											
MS4A3	932	broad.mit.edu	37	chr11	59837091	59837091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgctggaattatgCgtaaccatctctaccatagc	10	12	6	13	1	2	0	1	0	1	0	3	1	2	1	3	1	5	2	3	1	5	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:59837091C>T	ENST00000278865.3	+	6	631	c.558C>T	c.(556-558)tgC>tgT	p.C186C	MS4A3_ENST00000534744.1_Silent_p.C140C|MS4A3_ENST00000395032.2_Silent_p.C63C|MS4A3_ENST00000358152.2_Silent_p.C140C	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	186						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.C186C(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGAATTATGCGTAACCATCT	0.413																																						uc001nom.3																			1	Substitution - coding silent(1)	p.C186C(2)|p.L185S(1)	prostate(1)	endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(556-558)tgC>tgT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							279	258	265					11																	59837091		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59837091C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.558C>T	11.37:g.59837091C>T						MS4A3_uc001non.3_Silent_p.C140C|MS4A3_uc001noo.3_Silent_p.C63C	p.C186C	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			5	686	+		all_epithelial(135;0.245)	186					A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.558C>T	CCDS31567.1																																																																																				0.413	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			T	59837091	C	T	59837091	2	4	221	1	0	0	0	0	0	0	0	1	9861	776	27	1		1	MS4A3	11	59837091	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	1854710	59837091	75169425	66	15404											
POLD4	57804	broad.mit.edu	37	chr11	67120265	67120265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacaccagcgctgcagccGtgtgatccctgccagggtgg	6	6	14	15	3	0	1	0	1	0	0	1	2	1	1	5	2	4	2	5	2	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:67120265G>A	ENST00000312419.3	-	3	342	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	POLD4_ENST00000539074.1_Intron|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_5'UTR	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	66					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CGCTGCAGCCGTGTGATCCCT	0.637																																						uc001okm.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(196-198)Cgg>Tgg		Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.							19	22	21					11																	67120265		2194	4282	6476	SO:0001583	missense	57804				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:67120265G>A	AF179890	CCDS8158.1, CCDS58149.1	11q13	2012-05-18	2012-05-18		ENSG00000175482	ENSG00000175482		"DNA polymerases"	14106	protein-coding gene	gene with protein product	"DNA polymerase delta smallest subunit p12"	611525	"polymerase (DNA-directed), delta 4"			10751307	Standard	NM_021173		Approved	p12, POLDS	uc001okm.4	Q9HCU8	OTTHUMG00000167135	ENST00000312419.3:c.196C>T	11.37:g.67120265G>A	ENSP00000311368:p.Arg66Trp					LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript	p.R66W	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.08e-06)		2	378	-			66					F5H506	Missense_Mutation	SNP	ENST00000312419.3	37	c.196C>T	CCDS8158.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783972	0.70222	.	.	ENSG00000175482	ENST00000312419	T	0.51817	0.69	4.3	2.32	0.28847	.	0.000000	0.42548	D	0.000698	T	0.69142	0.3078	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70249	-0.4924	10	0.87932	D	0	-16.1453	8.9307	0.35668	0.0:0.0:0.5774:0.4226	.	66	Q9HCU8	DPOD4_HUMAN	W	66	ENSP00000311368:R66W	ENSP00000311368:R66W	R	-	1	2	POLD4	66876841	0.919000	0.31177	1.000000	0.80357	0.935000	0.57460	1.020000	0.30027	0.391000	0.25143	0.462000	0.41574	CGG		0.637	POLD4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393336.1	NM_021173		A	67120265	G	A	67120265	3	1	221	1	0	0	0	0	1	0	0	0	12193	1144	40	1	135	1	POLD4	11	67120265	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	7283174	67120265	67886251	67	15405											
MTNR1B	4544	broad.mit.edu	37	chr11	92714860	92714860	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctaccggcgctggcacacCcctctgcacatctgcctcat	7	9	7	18	2	4	0	1	0	3	0	4	0	4	0	4	2	3	3	4	2	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:92714860C>A	ENST00000257068.2	+	2	477	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	157					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTGGCACACCCCTCTGCACA	0.572																																						uc001pdk.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(469-471)acC>acA		Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	Ramelteon(DB00980)						129	122	124					11																	92714860		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714860C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.471C>A	11.37:g.92714860C>A							p.T157T	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	574	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	157						Silent	SNP	ENST00000257068.2	37	c.471C>A	CCDS8290.1																																																																																				0.572	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			A	92714860	C	A	92714860	2	1	221	1	0	0	0	0	0	0	0	1	9952	610	22	5		5	MTNR1B	11	92714860	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	25594595	92714860	42291656	68	15406											
CWF19L2	143884	broad.mit.edu	37	chr11	107200691	107200691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcttcaatgacatgggCaaaccctccgtgaaggccaa	12	8	9	12	1	2	3	1	3	1	0	3	3	3	3	3	2	1	1	3	2	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:107200691C>T	ENST00000282251.5	-	17	2521	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	832							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGACATGGGCAAACCCTCCG	0.383																																						uc010rvp.2																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2494-2496)Gcc>Acc		Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.							70	65	67					11																	107200691		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107200691C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2494G>A	11.37:g.107200691C>T	ENSP00000282251:p.Ala832Thr					CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	p.A832T	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	16	2524	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	832					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2494G>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	35	5.516427	0.96402	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.32515	1.45	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67764	-0.5586	10	0.62326	D	0.03	-9.4335	18.948	0.92628	0.0:1.0:0.0:0.0	.	832	Q2TBE0	C19L2_HUMAN	T	832;90	ENSP00000282251:A832T	ENSP00000282251:A832T	A	-	1	0	CWF19L2	106705901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.716000	0.92895	0.655000	0.94253	GCC		0.383	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		T	107200691	C	T	107200691	3	4	221	1	0	0	0	0	1	0	0	0	4072	710	25	3	198	3	CWF19L2	11	107200691	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	14485831	107200691	27805825	69	15407											
PRPF40B	25766	broad.mit.edu	37	chr12	50030600	50030600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccggcttcgggagcgaCgccaacaacgcaagaatcgg	10	3	15	13	6	0	1	0	0	0	1	2	3	0	2	2	4	3	2	2	4	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:50030600C>T	ENST00000380281.1	+	15	1526	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	PRPF40B_ENST00000261897.1_Missense_Mutation_p.R482C|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R510C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	488					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGGAGCGACGCCAACAACG	0.562											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rur.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1462-1464)Cgc>Tgc		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.							109	107	108					12																	50030600		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50030600C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1462C>T	12.37:g.50030600C>T	ENSP00000369634:p.Arg488Cys		OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	p.R488C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			14	1525	+			488					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1462C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.594439	0.86953	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.37915	1.17;1.19	4.86	4.86	0.63082	FF domain (1);	0.000000	0.64402	D	0.000008	T	0.64907	0.2641	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.997	T	0.68700	-0.5339	9	.	.	.	-9.1963	17.2809	0.87128	0.0:1.0:0.0:0.0	.	488;482;488	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	482;488	ENSP00000261897:R482C;ENSP00000369634:R488C	.	R	+	1	0	PRPF40B	48316867	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.821000	0.55700	2.704000	0.92352	0.655000	0.94253	CGC		0.562	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50030600	C	T	50030600	3	4	221	1	0	0	0	0	1	0	0	0	12572	536	19	1	1520	1	PRPF40B	12	50030600	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		50030600	83821295	70	15408											
CELA1	1990	broad.mit.edu	37	chr12	51723540	51723540	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagacattacagccccgGctggacacaaagctggtcac	11	6	11	13	1	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:51723540G>A	ENST00000293636.1	-	7	727	c.687C>T	c.(685-687)agC>agT	p.S229S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TACAGCCCCGGCTGGACACAA	0.512																																						uc001ryi.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(685-687)agC>agT		Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.							79	79	79					12																	51723540		2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51723540G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.687C>T	12.37:g.51723540G>A							p.S229S	NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN			6	728	-			229			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.687C>T	CCDS8812.1																																																																																				0.512	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		A	51723540	G	A	51723540	2	1	221	1	0	0	0	0	0	0	0	1	3210	1194	42	3		3	CELA1	12	51723540	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	1692940	51723540	82128355	71	15409											
STAT2	6773	broad.mit.edu	37	chr12	56748251	56748251	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtggtacctctcaccAtgtctccagctgttccaacc	6	12	9	14	0	2	0	1	0	2	0	5	0	3	0	5	3	3	3	5	3	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:56748251A>G	ENST00000314128.4	-	8	804	c.781T>C	c.(781-783)Tgg>Cgg	p.W261R	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Splice_Site_p.W257R|STAT2_ENST00000557235.1_Splice_Site_p.W257R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	261					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTCTCACCATGTCTCCAGC	0.527																																						uc001slc.3																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.e8+1		Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.							167	128	141					12																	56748251		2203	4300	6503	SO:0001630	splice_region_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748251A>G	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.782+1T>C	12.37:g.56748251A>G						STAT2_uc001sld.3_Splice_Site_p.W257_splice|STAT2_uc010sqn.2_Splice_Site_p.W257_splice	p.W261_splice	NM_005419	NP_005410	P52630	STAT2_HUMAN			8	985	-			261					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.782_splice	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507206	0.85282	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.63580	-0.05;-0.05;-0.05	4.67	4.67	0.58626	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.957;0.999;1.0	P;D;D	0.91635	0.848;0.975;0.999	T	0.80850	-0.1198	10	0.45353	T	0.12	-8.1231	13.543	0.61686	1.0:0.0:0.0:0.0	.	257;257;261	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	R	261;257;257	ENSP00000315768:W261R;ENSP00000450751:W257R;ENSP00000387354:W257R	ENSP00000315768:W261R	W	-	1	0	STAT2	55034518	1.000000	0.71417	0.989000	0.46669	0.266000	0.26442	8.110000	0.89562	2.091000	0.63221	0.482000	0.46254	TGG		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	Missense_Mutation	G	56748251	A	G	56748251	5	3	221	1	0	0	0	0	0	0	1	0	15264	231	8	4	1842	4	STAT2	12	56748251	Splice_Site	SNP	A	TCGA-32-1970-01A-01D-1494-08	5024711	56748251	77103644	72	15410											
UTP20	27340	broad.mit.edu	37	chr12	101750729	101750729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaaagtgtgtgccctaCtcaagaacagagcccaagaa	14	7	10	10	0	1	4	1	1	0	3	1	4	1	4	2	0	5	1	2	0	6	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:101750729C>A	ENST00000261637.4	+	43	5734	c.5560C>A	c.(5560-5562)Ctc>Atc	p.L1854I	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1854					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTGCCCTACTCAAGAACAG	0.363																																						uc001tia.1																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5560-5562)Ctc>Atc		Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.							67	62	64					12																	101750729		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101750729C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5560C>A	12.37:g.101750729C>A	ENSP00000261637:p.Leu1854Ile						p.L1854I	NM_014503	NP_055318	O75691	UTP20_HUMAN			42	5716	+			1854					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5560C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682342	0.88542	.	.	ENSG00000120800	ENST00000261637	T	0.73681	-0.77	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	M	0.88031	2.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.89211	0.3564	10	0.87932	D	0	-13.6163	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	1854	O75691	UTP20_HUMAN	I	1854	ENSP00000261637:L1854I	ENSP00000261637:L1854I	L	+	1	0	UTP20	100274860	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.491000	0.66887	2.882000	0.98803	0.655000	0.94253	CTC		0.363	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		A	101750729	C	A	101750729	3	1	221	1	0	0	0	0	1	0	0	0	17096	565	20	5	5730	5	UTP20	12	101750729	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	45002478	101750729	32101166	73	15411											
TMEM132B	114795	broad.mit.edu	37	chr12	125834519	125834519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctggagctgctgcccGagtggttcagctcaggcctg	5	9	15	12	1	2	1	2	1	0	0	2	3	2	2	2	3	5	5	2	3	0	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:125834519G>A	ENST00000299308.3	+	2	582	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	192						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTGCTGCCCGAGTGGTTCAG	0.632																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(574-576)Gag>Aag		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							42	46	45					12																	125834519		1998	4197	6195	SO:0001583	missense	114795					integral to membrane		g.chr12:125834519G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.574G>A	12.37:g.125834519G>A	ENSP00000299308:p.Glu192Lys					TMEM132B_uc021rgl.1_Missense_Mutation_p.E82K	p.E192K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	1	582	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		192					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.574G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297023	0.60086	.	.	ENSG00000139364	ENST00000299308	T	0.44881	0.91	5.34	5.34	0.76211	.	.	.	.	.	T	0.24547	0.0595	L	0.39898	1.24	0.80722	D	1	P	0.51791	0.948	B	0.31016	0.123	T	0.06092	-1.0846	9	0.36615	T	0.2	.	6.9427	0.24502	0.2114:0.0:0.7886:0.0	.	192	Q14DG7	T132B_HUMAN	K	192	ENSP00000299308:E192K	ENSP00000299308:E192K	E	+	1	0	TMEM132B	124400472	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.488000	0.83962	0.655000	0.94253	GAG		0.632	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		A	125834519	G	A	125834519	3	1	221	1	0	0	0	0	1	0	0	0	16043	1059	37	2	580	2	TMEM132B	12	125834519	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	24083790	125834519	8017376	74	15412											
RB1	5925	broad.mit.edu	37	chr13	49039351	49039351	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctctagccccctacctTgtcaccaatacctcacattc	8	13	3	17	0	3	0	2	0	1	0	4	0	3	0	5	0	4	1	5	0	4	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:49039351T>A	ENST00000267163.4	+	23	2474	c.2336T>A	c.(2335-2337)tTg>tAg	p.L779*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCCCCTACCTTGTCACCAATA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2335-2337)tTg>tAg		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						157	163	161					13																	49039351		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039351T>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2336T>A	13.37:g.49039351T>A	ENSP00000267163:p.Leu779*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.L779*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2502	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	779			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2336T>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	40	8.364551	0.98779	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2567	0.82522	0.0:0.0:0.0:1.0	.	.	.	.	X	758;779	.	ENSP00000267163:L779X	L	+	2	0	RB1	47937352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.242000	0.73789	0.482000	0.46254	TTG		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			A	49039351	T	A	49039351	4	1	221	1	0	0	0	0	0	1	0	0	13098	1821	63	5	2426	5	RB1	13	49039351	Nonsense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08		49039351	66130527	75	15413											
FGF14	2259	broad.mit.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	5	12	10	14	2	1	0	1	0	0	0	2	1	1	1	3	3	2	2	3	3	1	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																						uc001vpf.2																			2	Substitution - Missense(2)	p.T229M(2)|p.T224M(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(685-687)aCg>aTg		Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.							267	201	224					13																	102375254		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375254G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met					FGF14_uc001vpe.2_Missense_Mutation_p.T224M	p.T229M	NM_175929	NP_787125	Q92915	FGF14_HUMAN			4	782	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		224					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.686C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			A	102375254	G	A	102375254	3	1	221	1	0	0	0	0	1	0	0	0	5843	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	53335903	102375254	12794624	76	15414											
RNF31	55072	broad.mit.edu	37	chr14	24627141	24627141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taactgcagggtgaaaaagtCcctgcacggccaccaccctc	11	6	9	15	1	0	1	0	1	0	0	2	1	1	1	4	2	3	2	4	2	3	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:24627141C>A	ENST00000324103.6	+	17	3082	c.2762C>A	c.(2761-2763)tCc>tAc	p.S921Y	RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.S396Y|RNF31_ENST00000382687.3_Missense_Mutation_p.S770Y|RNF31_ENST00000559275.1_Missense_Mutation_p.S770Y	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	921	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTGAAAAAGTCCCTGCACGGC	0.587																																						uc001wmn.1																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(2761-2763)tCc>tAc		Homo sapiens ring finger protein 31 (RNF31), mRNA.							63	65	65					14																	24627141		1904	4125	6029	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24627141C>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2762C>A	14.37:g.24627141C>A	ENSP00000315112:p.Ser921Tyr					RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.S105Y|IRF9_uc001wmq.3_5'Flank	p.S921Y	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	16	3011	+			921					A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.2762C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873739	0.72180	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.77358	-1.09;-1.09	5.35	3.49	0.39957	Zinc finger, C6HC-type (1);	0.231767	0.44688	D	0.000426	T	0.80944	0.4721	L	0.51422	1.61	0.39448	D	0.96735	D;P;D;D	0.60575	0.963;0.895;0.963;0.988	P;B;P;P	0.59761	0.521;0.423;0.521;0.863	T	0.82020	-0.0664	10	0.72032	D	0.01	-12.8635	10.2382	0.43297	0.0:0.7879:0.137:0.0751	.	921;680;921;770	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	Y	354;921;770	ENSP00000315112:S921Y;ENSP00000372134:S770Y	ENSP00000315112:S921Y	S	+	2	0	RNF31	23696981	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.925000	0.48884	0.911000	0.36747	0.655000	0.94253	TCC		0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		A	24627141	C	A	24627141	3	1	221	1	0	0	0	0	1	0	0	0	13487	855	30	5	2828	5	RNF31	14	24627141	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		24627141	82722399	77	15415											
C14orf145	145508	broad.mit.edu	37	chr14	81329142	81329142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccagttgatcctggcGtctttccaccagctcccttt	5	13	8	15	1	1	1	0	1	1	0	5	2	5	1	5	1	1	2	5	1	0	3	rs200105295		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:81329142G>A	ENST00000555265.1	-	9	1096	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CEP128_ENST00000216517.6_Missense_Mutation_p.R241C|CEP128_ENST00000281129.3_Missense_Mutation_p.R241C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R241C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGATCCTGGCGTCTTTCCACC	0.463																																						uc001xux.2																			1	Substitution - Missense(1)	p.R241C(2)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(721-723)Cgc>Tgc		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							135	117	123					14																	81329142		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81329142G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.721C>T	14.37:g.81329142G>A	ENSP00000451162:p.Arg241Cys					CEP128_uc001xuz.2_Missense_Mutation_p.R241C|CEP128_uc001xuy.1_Missense_Mutation_p.R99C	p.R241C	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN			7	892	-			241					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.721C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981040	0.53827	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	T;T;T	0.56444	1.11;1.11;0.46	6.08	6.08	0.98989	.	0.155258	0.45606	D	0.000341	T	0.72112	0.3420	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.994;0.996	T	0.70901	-0.4746	10	0.59425	D	0.04	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	241;122;241	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	C	241	ENSP00000281129:R241C;ENSP00000451162:R241C;ENSP00000216517:R241C	ENSP00000216517:R241C	R	-	1	0	CEP128	80398895	1.000000	0.71417	0.967000	0.41034	0.022000	0.10575	5.208000	0.65203	2.894000	0.99253	0.655000	0.94253	CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		A	81329142	G	A	81329142	3	1	221	1	0	0	0	0	1	0	0	0	1749	1145	40	1	2631	1	C14orf145	14	81329142	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	56702001	81329142	26020398	78	15416											
FLRT2	23768	broad.mit.edu	37	chr14	86088466	86088466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatggccttccagaatcTcacgagcttggagcgtctta	9	10	10	12	3	2	1	1	0	2	1	4	4	3	2	2	2	2	1	2	2	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:86088466T>C	ENST00000330753.4	+	2	1375	c.608T>C	c.(607-609)cTc>cCc	p.L203P	FLRT2_ENST00000554746.1_Missense_Mutation_p.L203P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	203					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCAGAATCTCACGAGCTTG	0.522																																						uc021rxf.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(607-609)cTc>cCc		Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.							116	117	116					14																	86088466		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088466T>C	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.608T>C	14.37:g.86088466T>C	ENSP00000332879:p.Leu203Pro					FLRT2_uc001xvr.3_Missense_Mutation_p.L203P|FLRT2_uc010atd.3_Missense_Mutation_p.L203P	p.L203P	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	0	608	+			203					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.608T>C	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447853	0.63178	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.71103	-0.54;-0.54	5.42	5.42	0.78866	.	0.064498	0.64402	D	0.000005	D	0.88370	0.6418	H	0.96720	3.87	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	D	0.92338	0.5879	10	0.87932	D	0	-16.1667	15.7612	0.78082	0.0:0.0:0.0:1.0	.	203	O43155	FLRT2_HUMAN	P	203	ENSP00000332879:L203P;ENSP00000451050:L203P	ENSP00000332879:L203P	L	+	2	0	FLRT2	85158219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.996000	0.88334	2.182000	0.69389	0.528000	0.53228	CTC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			C	86088466	T	C	86088466	3	2	221	1	0	0	0	0	1	0	0	0	5939	1551	54	4	610	4	FLRT2	14	86088466	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08	4759324	86088466	21261074	79	15417											
GATM	2628	broad.mit.edu	37	chr15	45668979	45668979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagctgcctgggtgctctgGaaagttcgctgcacccatcc	6	10	12	13	1	1	0	0	0	1	0	3	1	2	1	3	2	4	6	3	2	2	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:45668979G>T	ENST00000396659.3	-	2	447	c.108C>A	c.(106-108)ttC>ttA	p.F36L	GATM_ENST00000558336.1_Missense_Mutation_p.F36L|GATM_ENST00000458245.5_5'Flank	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	36					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGGTGCTCTGGAAAGTTCGCT	0.512																																						uc001zvc.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(106-108)ttC>ttA		Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						66	61	62					15																	45668979		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45668979G>T	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.108C>A	15.37:g.45668979G>T	ENSP00000379895:p.Phe36Leu					GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L|LOC145663_uc021sko.1_5'Flank	p.F36L	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	1	437	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	36					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.108C>A	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809807	0.50421	.	.	ENSG00000171766	ENST00000396659	T	0.42513	0.97	5.81	5.81	0.92471	.	0.199529	0.52532	D	0.000066	T	0.29223	0.0727	N	0.16478	0.41	0.40759	D	0.982988	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.11036	-1.0604	10	0.14656	T	0.56	-9.1178	17.5723	0.87937	0.0:0.0:1.0:0.0	.	36;36	P50440-3;P50440	.;GATM_HUMAN	L	36	ENSP00000379895:F36L	ENSP00000379895:F36L	F	-	3	2	GATM	43456271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.578000	0.53892	2.736000	0.93811	0.655000	0.94253	TTC		0.512	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		T	45668979	G	T	45668979	3	4	221	1	0	0	0	0	1	0	0	0	6263	1165	41	5	1195	5	GATM	15	45668979	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		45668979	56862413	80	15418											
MEGF11	84465	broad.mit.edu	37	chr15	66191203	66191203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggtgggtccttaattGtggcgtaagggttttcactg	6	14	16	5	1	1	0	1	0	0	0	2	1	2	1	1	5	0	2	1	5	2	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:66191203G>T	ENST00000409699.2	-	22	3009	c.2837C>A	c.(2836-2838)aCa>aAa	p.T946K	MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.T946K|MEGF11_ENST00000288745.3_Missense_Mutation_p.T871K|MEGF11_ENST00000395625.2_Missense_Mutation_p.T871K|MEGF11_ENST00000478721.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	946					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCCTTAATTGTGGCGTAAGG	0.468																																						uc002apm.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2836-2838)aCa>aAa		Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.							140	127	132					15																	66191203		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66191203G>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2837C>A	15.37:g.66191203G>T	ENSP00000386908:p.Thr946Lys					MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	p.T946K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			21	2978	-			946					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2837C>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832222	0.71258	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95035	-3.59;-3.46;-3.59;-3.46	5.35	5.35	0.76521	.	0.000000	0.41823	U	0.000802	D	0.92916	0.7746	M	0.73962	2.25	0.80722	D	1	P;B	0.39665	0.682;0.082	B;B	0.37943	0.261;0.037	D	0.90963	0.4814	10	0.02654	T	1	.	19.2576	0.93952	0.0:0.0:1.0:0.0	.	946;871	A6BM72;A6BM72-2	MEG11_HUMAN;.	K	946;871;946;871	ENSP00000386908:T946K;ENSP00000288745:T871K;ENSP00000414475:T946K;ENSP00000378987:T871K	ENSP00000288745:T871K	T	-	2	0	MEGF11	63978257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.263000	0.95617	2.789000	0.95967	0.655000	0.94253	ACA		0.468	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		T	66191203	G	T	66191203	3	4	221	1	0	0	0	0	1	0	0	0	9461	1377	48	5	305	5	MEGF11	15	66191203	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	20522224	66191203	36340189	81	15419											
PGPEP1L	145814	broad.mit.edu	37	chr15	99512679	99512679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctcgggaaaagatcaCgtcgacaccctccacagcta	12	7	8	14	3	2	1	1	0	1	1	5	3	3	2	2	1	2	2	2	1	3	1	rs372203076		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:99512679C>T	ENST00000378919.6	-	4	551	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_Missense_Mutation_p.V62M	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	116							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAAAAGATCACGTCGACACCC	0.627																																						uc002bum.3																			0		p.D115N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(346-348)Gtg>Atg		Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	0,4380		0,0,2190	116	119	118		346,184	2.4	0	15		118	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	PGPEP1L	NM_001102612.2,NM_001167902.1	21,21	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	116/197,62/143	99512679	1,12969	2190	4295	6485	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512679C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.346G>A	15.37:g.99512679C>T	ENSP00000368199:p.Val116Met					PGPEP1L_uc010bop.3_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.3_Missense_Mutation_p.V62M	p.V116M	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN			3	646	-			116					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.346G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462278	0.43736	0.0	1.16E-4	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.42900	0.96	4.37	2.39	0.29439	.	0.260668	0.30051	N	0.010539	T	0.50154	0.1599	M	0.88105	2.93	0.09310	N	1	D	0.61080	0.989	P	0.46339	0.513	T	0.51663	-0.8677	10	0.62326	D	0.03	-18.8338	8.0737	0.30704	0.0:0.6917:0.0:0.3083	.	116	A6NFU8	PGPIL_HUMAN	M	116;109	ENSP00000368199:V116M	ENSP00000368199:V116M	V	-	1	0	PGPEP1L	97330202	0.273000	0.24181	0.016000	0.15963	0.001000	0.01503	1.491000	0.35583	1.026000	0.39733	0.655000	0.94253	GTG		0.627	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99512679	C	T	99512679	3	4	221	1	0	0	0	0	1	0	0	0	11804	536	19	1	252	1	PGPEP1L	15	99512679	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	33321476	99512679	3018713	82	15420											
TMEM219	124446	broad.mit.edu	37	chr16	29979390	29979390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcacagccagggtgaccAcagaaaggactgcaggaacc	14	5	11	11	0	1	2	1	1	0	1	1	4	1	4	3	3	3	1	3	3	3	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:29979390A>G	ENST00000566848.1	+	3	867	c.400A>G	c.(400-402)Aca>Gca	p.T134A	TMEM219_ENST00000279396.6_Missense_Mutation_p.T134A|TMEM219_ENST00000414689.2_Missense_Mutation_p.T134A|TMEM219_ENST00000561899.2_Missense_Mutation_p.T134A			Q86XT9	TM219_HUMAN	transmembrane protein 219	134					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(1)|prostate(2)	4						CAGGGTGACCACAGAAAGGAC	0.527																																						uc002duw.2																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(400-402)Aca>Gca		Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA.							105	114	111					16																	29979390		1917	4121	6038	SO:0001583	missense	124446					integral to membrane		g.chr16:29979390A>G		CCDS42145.1	16p11.2	2008-08-08			ENSG00000149932	ENSG00000149932			25201	protein-coding gene	gene with protein product							Standard	NM_194280		Approved		uc010bzk.1	Q86XT9		ENST00000566848.1:c.400A>G	16.37:g.29979390A>G	ENSP00000457492:p.Thr134Ala					BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_Non-coding_Transcript	p.T134A	NM_194280	NP_919256	Q86XT9	TM219_HUMAN			3	567	+			134					D5FK14|Q8WVV8	Missense_Mutation	SNP	ENST00000566848.1	37	c.400A>G	CCDS42145.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101870	0.37048	.	.	ENSG00000149932	ENST00000414689;ENST00000279396	.	.	.	5.66	-8.18	0.01053	.	1.104690	0.06739	N	0.777946	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	9	0.17369	T	0.5	-30.8269	1.9273	0.03319	0.2652:0.3872:0.1476:0.2	.	134	Q86XT9	TM219_HUMAN	A	134	.	ENSP00000279396:T134A	T	+	1	0	TMEM219	29886891	0.045000	0.20229	0.438000	0.26821	0.979000	0.70002	-0.439000	0.06897	-1.490000	0.01842	0.459000	0.35465	ACA		0.527	TMEM219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435307.1	NM_001083613		G	29979390	A	G	29979390	3	3	221	1	0	0	0	0	1	0	0	0	16139	159	6	4	410	4	TMEM219	16	29979390	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08		29979390	60375363	83	15421											
SNX20	124460	broad.mit.edu	37	chr16	50707501	50707501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcccgggcctgcaggCgctgcagggccctctctccg	2	6	14	19	3	1	0	0	0	1	0	4	0	3	0	5	4	2	3	5	4	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:50707501C>T	ENST00000330943.4	-	4	938	c.767G>A	c.(766-768)cGc>cAc	p.R256H	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	256					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.R256H(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCTGCAGGCGCTGCAGGGC	0.741																																						uc002egk.2																			1	Substitution - Missense(1)	p.R256H(2)	ovary(1)	kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(766-768)cGc>cAc		Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.							11	12	12					16																	50707501		2141	4176	6317	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707501C>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.767G>A	16.37:g.50707501C>T	ENSP00000332062:p.Arg256His					SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	p.R256H	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN			3	940	-			256					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.767G>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039662	0.19669	.	.	ENSG00000167208	ENST00000330943	T	0.63255	-0.03	5.78	-0.716	0.11212	.	1.061170	0.07144	N	0.847877	T	0.29423	0.0733	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20207	-1.0282	10	0.14252	T	0.57	-9.3972	5.375	0.16160	0.2284:0.4895:0.0:0.2821	.	256	Q7Z614	SNX20_HUMAN	H	256	ENSP00000332062:R256H	ENSP00000332062:R256H	R	-	2	0	SNX20	49265002	0.000000	0.05858	0.189000	0.23252	0.961000	0.63080	-0.606000	0.05654	0.264000	0.21851	-0.314000	0.08810	CGC		0.741	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		T	50707501	C	T	50707501	3	4	221	1	0	0	0	0	1	0	0	0	14892	768	27	1	330	1	SNX20	16	50707501	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	20728111	50707501	39647252	84	15422											
CPNE2	221184	broad.mit.edu	37	chr16	57153520	57153520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccattcacagtgccCttggtgtccctgtgtgatgg	6	12	13	10	0	1	1	1	1	0	0	2	2	2	2	3	3	2	0	3	3	1	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:57153520C>T	ENST00000535318.2	+	8	1000	c.639C>T	c.(637-639)ccC>ccT	p.P213P	CPNE2_ENST00000290776.8_Silent_p.P213P|CPNE2_ENST00000565874.1_Silent_p.P213P|CPNE2_ENST00000537605.1_Silent_p.P111P			Q96FN4	CPNE2_HUMAN	copine II	213	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCACAGTGCCCTTGGTGTCCC	0.617																																						uc010cct.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(715-717)ccC>ccT		Homo sapiens copine II (CPNE2), mRNA.							84	71	75					16																	57153520		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57153520C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.639C>T	16.37:g.57153520C>T						CPNE2_uc002eks.2_Silent_p.P213P|CPNE2_uc010ccu.2_Silent_p.P213P	p.P239P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			7	1064	+		all_neural(199;0.224)	213			C2 2.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.717C>T	CCDS10774.1																																																																																				0.617	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		T	57153520	C	T	57153520	2	4	221	1	0	0	0	0	0	0	0	1	3812	668	24	3		3	CPNE2	16	57153520	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	6446019	57153520	33201233	85	15423											
PKD1L2	114780	broad.mit.edu	37	chr16	81181065	81181065	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagtcccagcccaaggCgggggatggcaccttgagag	9	5	15	12	1	0	2	0	2	0	1	1	4	1	3	3	4	1	1	3	4	1	1	rs113696594	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:81181065C>T	ENST00000525539.1	-	0	5025				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCCAAGGCGGGGGATGGC	0.547													C|||	2	0.000399361	8e-04	0	5008	,	,		21379	0.001		0	False		,,,				2504	0					uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(5026-5028)Gcc>Acc		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.		C	THR/ALA	7,3959		0,7,1976	83	85	85		5026	-2.9	0	16	dbSNP_132	85	0,8294		0,0,4147	no	missense	PKD1L2	NM_052892.3	58	0,7,6123	TT,TC,CC		0.0,0.1765,0.0571	benign	1676/2460	81181065	7,12253	1983	4147	6130			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181065C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181065C>T						PKD1L2_uc002fgg.1_Non-coding_Transcript	p.A1676T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			29	5026	-			1676					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.5026G>A																																																																																					0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			T	81181065	C	T	81181065	1	4	221	0	1	0	0	0	0	0	0	0	11965	768	27	1		1	PKD1L2	16	81181065	RNA	SNP	C	TCGA-32-1970-01A-01D-1494-08	24027545	81181065	9173688	86	15424											
NEURL4	84461	broad.mit.edu	37	chr17	7220634	7220634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttctcgccaggctcctcGaaccctaccccaggttctcc	6	9	7	19	2	2	0	0	0	2	0	6	1	3	0	6	2	2	3	6	2	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7220634G>A	ENST00000399464.2	-	28	4389	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Silent_p.F1456F|NEURL4_ENST00000570460.1_Silent_p.F1434F|GPS2_ENST00000389167.5_5'Flank|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.S272L|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1458						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGCTCCTCGAACCCTACCC	0.607																																						uc002gga.1																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(4372-4374)ttC>ttT		Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.							45	49	47					17																	7220634		1988	4136	6124	SO:0001819	synonymous_variant	84461				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7220634G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4374C>T	17.37:g.7220634G>A						GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1456F	p.F1458F	NM_032442	NP_115818	Q13227	GPS2_HUMAN			27	4381	-		Prostate(122;0.157)	138					Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.4374C>T	CCDS42251.1																																																																																				0.607	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7220634	G	A	7220634	2	1	221	1	0	0	0	0	0	0	0	1	10347	1049	37	2		2	NEURL4	17	7220634	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08		7220634	73974576	87	15425											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4	rs587780075		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000420246.2_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM921040	TP53	M		c.(799-801)cGg>cCg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R267P	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577138	C	G	7577138	3	3	221	1	0	0	0	0	1	0	0	0	16378	652	23	5	486	5	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	356504	7577138	73618072	88	15426											
SLC47A2	146802	broad.mit.edu	37	chr17	19618087	19618087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaactcctacagaaactcCgcagacattgacaaactggc	15	6	6	14	1	0	3	0	1	0	2	2	3	2	3	3	1	4	1	3	1	4	2	rs148775490	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:19618087C>T	ENST00000325411.5	-	3	291	c.241G>A	c.(241-243)Gga>Aga	p.G81R	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.G81R	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	81					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	ACAGAAACTCCGCAGACATTG	0.587																																						uc002gwe.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(241-243)Gga>Aga		Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	186	174	178		241,241	5.1	0.1	17	dbSNP_134	178	3,8597	3.7+/-12.6	0,3,4297	yes	missense,missense	SLC47A2	NM_001099646.1,NM_152908.3	125,125	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	81/567,81/603	19618087	3,13003	2203	4300	6503	SO:0001583	missense	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19618087C>T	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.241G>A	17.37:g.19618087C>T	ENSP00000326671:p.Gly81Arg					SLC47A2_uc002gwg.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	p.G81R	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			2	416	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		81					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	c.241G>A	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626401	0.87560	0.0	3.49E-4	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	5.12	5.12	0.69794	.	0.053182	0.85682	D	0.000000	T	0.71108	0.3301	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.83080	-0.0138	10	0.87932	D	0	-21.9958	16.0508	0.80760	0.0:1.0:0.0:0.0	.	81;81;81	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	R	81;81;32;81	ENSP00000338084:G81R;ENSP00000326671:G81R;ENSP00000391848:G81R	ENSP00000326671:G81R	G	-	1	0	SLC47A2	19558679	0.978000	0.34361	0.099000	0.21106	0.187000	0.23431	4.923000	0.63412	2.386000	0.81285	0.455000	0.32223	GGA		0.587	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		T	19618087	C	T	19618087	3	4	221	1	0	0	0	0	1	0	0	0	14648	661	23	2	1627	2	SLC47A2	17	19618087	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	12040949	19618087	61577123	89	15427											
DHRS13	147015	broad.mit.edu	37	chr17	27228288	27228288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgaagcagcaggttaaaCgcctcacgggtccggccaca	11	4	11	15	4	1	0	1	0	0	0	2	1	2	0	4	3	3	3	4	3	3	1	rs549688711	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:27228288C>T	ENST00000378895.4	-	4	528	c.402G>A	c.(400-402)gcG>gcA	p.A134A	RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Silent_p.A84A|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Silent_p.A53A	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	134						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCAGGTTAAACGCCTCACGGG	0.592													C|||	2	0.000399361	8e-04	0	5008	,	,		16743	0		0	False		,,,				2504	0.001					uc002hde.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(400-402)gcG>gcA		Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.							66	66	66					17																	27228288		2203	4300	6503	SO:0001819	synonymous_variant	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228288C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.402G>A	17.37:g.27228288C>T						DHRS13_uc002hdd.4_Silent_p.A84A|DHRS13_uc010wba.2_Silent_p.A53A	p.A134A	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		3	529	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		134					Q96BH7	Silent	SNP	ENST00000378895.4	37	c.402G>A	CCDS11246.2																																																																																				0.592	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		T	27228288	C	T	27228288	2	4	221	1	0	0	0	0	0	0	0	1	4489	523	19	1		1	DHRS13	17	27228288	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	7610201	27228288	53966922	90	15428											
AXIN2	8313	broad.mit.edu	37	chr17	63553948	63553948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactgtcaacagtttccGtggacctcacactcgccgtg	8	10	8	15	3	2	0	2	0	0	0	5	1	4	1	4	1	1	1	4	1	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:63553948G>A	ENST00000375702.5	-	1	899	c.791C>T	c.(790-792)aCg>aTg	p.T264M	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.T264M			Q9Y2T1	AXIN2_HUMAN	axin 2	264					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGTTTCCGTGGACCTCAC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.3																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(790-792)aCg>aTg		Homo sapiens axin 2 (AXIN2), mRNA.							73	67	69					17																	63553948		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63553948G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.791C>T	17.37:g.63553948G>A	ENSP00000364854:p.Thr264Met					AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.3_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M	p.T264M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			1	1080	-			264					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.791C>T		.	.	.	.	.	.	.	.	.	.	G	4.089	0.014475	0.07959	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.82619	-1.63;-1.63	5.12	2.05	0.26809	.	0.621803	0.17903	N	0.158120	T	0.73202	0.3557	L	0.44542	1.39	0.19300	N	0.999978	B;B;B	0.17038	0.02;0.007;0.02	B;B;B	0.10450	0.005;0.004;0.005	T	0.62525	-0.6836	10	0.54805	T	0.06	-5.2189	5.1548	0.15029	0.2271:0.0:0.6293:0.1436	.	264;264;264	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	M	264	ENSP00000302625:T264M;ENSP00000364854:T264M	ENSP00000302625:T264M	T	-	2	0	AXIN2	60984410	0.396000	0.25262	0.225000	0.23894	0.824000	0.46624	1.828000	0.39111	0.190000	0.20209	0.455000	0.32223	ACG		0.537	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		A	63553948	G	A	63553948	3	1	221	1	0	0	0	0	1	0	0	0	1237	1145	40	1	1780	1	AXIN2	17	63553948	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	36325660	63553948	17641262	91	15429											
F2RL3	9002	broad.mit.edu	37	chr19	17000950	17000950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcgcgctccgatcgcGtgctctgccatgacgcgctg	3	8	15	15	7	1	1	0	1	1	0	3	2	2	1	2	2	2	4	2	2	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:17000950G>A	ENST00000248076.3	+	2	1006	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	226					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGATCGCGTGCTCTGCCA	0.701																																						uc002nfa.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(676-678)Gtg>Atg		Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.							20	17	18					19																	17000950		2190	4291	6481	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000950G>A	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.676G>A	19.37:g.17000950G>A	ENSP00000248076:p.Val226Met						p.V226M	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			1	851	+			226					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.676G>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036407	0.19669	.	.	ENSG00000127533	ENST00000248076	T	0.37752	1.18	4.15	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.259259	0.28901	N	0.013768	T	0.17066	0.0410	L	0.34521	1.04	0.27291	N	0.957842	P	0.34934	0.476	B	0.22386	0.039	T	0.08722	-1.0708	10	0.42905	T	0.14	.	4.2992	0.10916	0.4101:0.415:0.175:0.0	.	226	Q96RI0	PAR4_HUMAN	M	226	ENSP00000248076:V226M	ENSP00000248076:V226M	V	+	1	0	F2RL3	16861950	0.911000	0.30947	0.066000	0.19879	0.099000	0.18886	2.143000	0.42187	-0.080000	0.12685	0.491000	0.48974	GTG		0.701	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			A	17000950	G	A	17000950	3	1	221	1	0	0	0	0	1	0	0	0	5346	1145	40	1	682	1	F2RL3	19	17000950	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		17000950	42128033	92	15430											
FFAR3	2865	broad.mit.edu	37	chr19	35849928	35849928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgggcaagctgcagcgcCgcccggtggccgtggacgtg	4	6	18	13	6	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	1	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:35849928C>T	ENST00000327809.4	+	2	337	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46C	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCAGCGCCGCCCGGTGGC	0.637																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.3																			0		p.R46R(1)|p.R45H(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(136-138)Cgc>Tgc		Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.							183	167	173					19																	35849928		2199	4295	6494	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849928C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.136C>T	19.37:g.35849928C>T	ENSP00000328230:p.Arg46Cys					FFAR3_uc021usm.1_Missense_Mutation_p.R46C	p.R46C	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		1	211	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		46					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.136C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602815	0.28534	.	.	ENSG00000185897	ENST00000327809	T	0.46063	0.88	4.99	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.412595	0.22698	N	0.056734	T	0.47060	0.1425	M	0.78049	2.395	0.09310	N	1	B	0.22146	0.065	B	0.22601	0.04	T	0.46582	-0.9181	10	0.66056	D	0.02	-13.6349	14.3015	0.66355	0.0:0.9186:0.0:0.0814	.	46	O14843	FFAR3_HUMAN	C	46	ENSP00000328230:R46C	ENSP00000328230:R46C	R	+	1	0	FFAR3	40541768	0.000000	0.05858	0.804000	0.32291	0.835000	0.47333	0.660000	0.25009	0.708000	0.31955	-1.644000	0.00765	CGC		0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		T	35849928	C	T	35849928	3	4	221	1	0	0	0	0	1	0	0	0	5829	652	23	2	138	2	FFAR3	19	35849928	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	18848978	35849928	23279055	93	15431											
ZNF229	7772	broad.mit.edu	37	chr19	44932920	44932920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatagggcttttttcccGtgtggactcgctgatgtttg	5	16	12	8	3	0	1	0	1	0	0	2	2	1	2	1	2	0	4	1	2	2	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:44932920G>A	ENST00000588931.1	-	6	2469	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.T673M|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512																																						uc002oze.1																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(2035-2037)aCg>aTg		Homo sapiens zinc finger protein 229 (ZNF229), mRNA.							130	131	131					19																	44932920		2116	4257	6373	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932920G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2036C>T	19.37:g.44932920G>A	ENSP00000466519:p.Thr679Met					ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M	p.T679M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	2470	-		Prostate(69;0.0352)	679					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.2036C>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900752	0.92035	.	.	ENSG00000167383	ENST00000291187	T	0.19806	2.12	3.82	2.75	0.32379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47021	0.1423	M	0.82923	2.615	0.33603	D	0.602642	D	0.89917	1.0	D	0.73380	0.98	T	0.63449	-0.6635	9	0.72032	D	0.01	.	12.0118	0.53291	0.0:0.1767:0.8233:0.0	.	679	Q9UJW7	ZN229_HUMAN	M	679	ENSP00000291187:T679M	ENSP00000291187:T679M	T	-	2	0	ZNF229	49624760	0.713000	0.27926	0.226000	0.23910	0.928000	0.56348	0.916000	0.28651	0.564000	0.29238	0.609000	0.83330	ACG		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		A	44932920	G	A	44932920	3	1	221	1	0	0	0	0	1	0	0	0	17779	1145	40	1	445	1	ZNF229	19	44932920	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	9082992	44932920	14196063	94	15432											
ZNFX1	57169	broad.mit.edu	37	chr20	47887010	47887010	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagacccatagagcaatcGtttggaattctgccagcgaa	14	8	9	10	2	1	2	0	0	1	2	2	4	1	3	2	1	3	2	2	1	5	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:47887010G>A	ENST00000396105.1	-	3	1585	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ZNFX1_ENST00000371754.4_Nonsense_Mutation_p.R447*|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.R447*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	447							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGAGCAATCGTTTGGAATTC	0.468																																						uc002xui.3																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1339-1341)Cga>Tga		Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.							151	147	149					20																	47887010		2203	4300	6503	SO:0001587	stop_gained	57169						metal ion binding	g.chr20:47887010G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1339C>T	20.37:g.47887010G>A	ENSP00000379412:p.Arg447*						p.R447*	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1586	-			447					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Nonsense_Mutation	SNP	ENST00000396105.1	37	c.1339C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903197	0.97087	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	.	.	.	5.85	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6853	8.1639	0.31215	0.0707:0.0:0.5318:0.3975	.	.	.	.	X	447;447;447;447;447;251	.	ENSP00000360809:R447X	R	-	1	2	ZNFX1	47320417	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.329000	0.43876	0.813000	0.34350	-0.140000	0.14226	CGA		0.468	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		A	47887010	G	A	47887010	4	1	221	1	0	0	0	0	0	1	0	0	18202	1153	40	1	4465	1	ZNFX1	20	47887010	Nonsense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		47887010	15138510	95	15433											
PRIC285	85441	broad.mit.edu	37	chr20	62200284	62200284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacagtgctcccggaggcGcgaagagcatgttcagcgct	8	7	14	12	5	1	1	1	0	0	1	2	3	2	2	1	2	4	5	1	2	2	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:62200284G>A	ENST00000467148.1	-	5	1226	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	386					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCCGGAGGCGCGAAGAGCAT	0.677																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(1156-1158)gCg>gTg		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							47	47	47					20																	62200284		2181	4271	6452	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200284G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1157C>T	20.37:g.62200284G>A	ENSP00000417401:p.Ala386Val					PRIC285_uc002yfl.1_5'Flank	p.A386V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		5	2049	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		386					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1157C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907687	0.33721	.	.	ENSG00000130589	ENST00000467148	T	0.80738	-1.41	4.8	2.85	0.33270	.	0.552311	0.17766	N	0.162744	T	0.73536	0.3599	M	0.61703	1.905	0.09310	N	1	P	0.47253	0.892	B	0.35413	0.202	T	0.64964	-0.6283	10	0.62326	D	0.03	-16.6524	10.7185	0.46026	0.1562:0.0:0.8438:0.0	.	386	Q9BYK8	PR285_HUMAN	V	386	ENSP00000417401:A386V	ENSP00000417401:A386V	A	-	2	0	RP4-697K14.7	61670728	0.968000	0.33430	0.001000	0.08648	0.178000	0.23041	4.336000	0.59304	0.469000	0.27268	0.462000	0.41574	GCG		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200284	G	A	62200284	3	1	221	1	0	0	0	0	1	0	0	0	12485	1087	38	1	6875	1	PRIC285	20	62200284	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	14313274	62200284	825236	96	15434											
CYTSA	23384	broad.mit.edu	37	chr22	24807598	24807598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctggaatgatgggCtggccttctgtgccctcctg	5	10	14	12	0	1	1	0	1	1	0	2	2	2	2	3	3	3	4	3	3	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr22:24807598C>T	ENST00000314328.9	+	15	3415	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SPECC1L_ENST00000437398.1_Silent_p.L1044L|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1044	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493																																						uc002zzw.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(3130-3132)Ctg>Ttg		Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.							134	118	123					22																	24807598		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24807598C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3130C>T	22.37:g.24807598C>T						SPECC1L_uc002zzv.4_Silent_p.L1044L|SPECC1L_uc011ajq.2_Intron|SPECC1L_uc021wne.1_Non-coding_Transcript|SPECC1L_uc021wnf.1_Silent_p.L110L	p.L1044L	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			14	3433	+			1044			CH.		B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.3130C>T	CCDS33619.1																																																																																				0.493	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		T	24807598	C	T	24807598	2	4	221	1	0	0	0	0	0	0	0	1	4209	796	28	3		3	CYTSA	22	24807598	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08		24807598	26496968	97	15435											
EGFL6	25975	broad.mit.edu	37	chrX	13624543	13624543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcatctgtccctacaatcGaagatgtgtgaacacatttg	12	12	8	9	1	2	2	1	1	1	1	4	3	3	2	1	0	2	0	1	0	4	2	rs182977902		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chrX:13624543G>A	ENST00000361306.1	+	6	823	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_ENST00000380602.3_Missense_Mutation_p.R189Q	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	189	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398													G|||	1	0.000264901	8e-04	0	3775	,	,		15745	0		0	False		,,,				2504	0					uc004cvj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(565-567)cGa>cAa		Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.							215	174	188					X																	13624543		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624543G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.566G>A	X.37:g.13624543G>A	ENSP00000355126:p.Arg189Gln					EGFL6_uc004cvi.3_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	p.R189Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN			5	853	+			189			EGF-like 4; calcium-binding (Potential).		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.566G>A	CCDS14155.1	2	0.0012055455093429777	1	0.0020408163265306124	0	0.0	0	0.0	0	0.0	G	33	5.284149	0.95517	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.86627	-2.15;-2.15	5.14	5.14	0.70334	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	N	0.01668	-0.77	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87712	0.2567	10	0.35671	T	0.21	.	17.4338	0.87546	0.0:0.0:1.0:0.0	.	189;189	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	Q	189	ENSP00000355126:R189Q;ENSP00000369976:R189Q	ENSP00000355126:R189Q	R	+	2	0	EGFL6	13534464	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.078000	0.94023	2.144000	0.66660	0.532000	0.56150	CGA		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		A	13624543	G	A	13624543	3	1	221	1	0	0	0	0	1	0	0	0	4963	1058	37	2	588	2	EGFL6	23	13624543	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		13624543	141646017	98	15436											
PLEKHN1	84069	broad.mit.edu	37	chr1	909247	909247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtgcacgtggacccaCgccctcgagcccactcccct	7	5	10	19	3	0	1	0	0	0	1	2	3	1	2	5	1	2	2	5	1	0	0	rs72631892		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:909247C>T	ENST00000379409.2	+	13	1655	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.T455M|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.T490M			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	542										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGTGGACCCACGCCCTCGAGC	0.682																																						uc001ace.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1624-1626)aCg>aTg		Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.							29	35	32					1																	909247		2198	4296	6494	SO:0001583	missense	84069							g.chr1:909247C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1625C>T	1.37:g.909247C>T	ENSP00000368719:p.Thr542Met					PLEKHN1_uc001acd.3_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.3_Missense_Mutation_p.T455M	p.T542M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	12	1660	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	542					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.1625C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	1.912	-0.450368	0.04572	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.45276	0.91;0.9;0.91	4.65	2.13	0.27403	.	0.744234	0.12895	N	0.430281	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B;B	0.33964	0.434;0.013;0.005	B;B;B	0.28638	0.092;0.004;0.002	T	0.12116	-1.0560	10	0.52906	T	0.07	.	5.002	0.14269	0.4493:0.3285:0.0:0.2222	.	455;542;490	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	M	490;455;542	ENSP00000368720:T490M;ENSP00000368717:T455M;ENSP00000368719:T542M	ENSP00000368717:T455M	T	+	2	0	PLEKHN1	899110	0.056000	0.20664	0.004000	0.12327	0.003000	0.03518	0.236000	0.17967	-0.083000	0.12618	-1.017000	0.02453	ACG		0.682	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		T	909247	C	T	909247	3	4	222	1	0	0	0	0	1	0	0	0	12083	536	19	1	1559	1	PLEKHN1	1	909247	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		909247	248341374	1	15437											
TAS1R2	80834	broad.mit.edu	37	chr1	19168299	19168299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtggatgcccacaggcttCttcttttgccctgactggca	6	12	10	13	1	2	1	0	1	2	0	2	2	2	2	2	3	2	2	2	3	0	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:19168299C>T	ENST00000375371.3	-	5	1536	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	505					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACAGGCTTCTTCTTTTGCC	0.562																																						uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1513-1515)aaG>aaA		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						136	109	118					1																	19168299		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19168299C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1515G>A	1.37:g.19168299C>T							p.K505K	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	1516	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	505					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1515G>A	CCDS187.1																																																																																				0.562	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19168299	C	T	19168299	2	4	222	1	0	0	0	0	0	0	0	1	15560	912	32	3		3	TAS1R2	1	19168299	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	18259052	19168299	230082322	2	15438											
RIMS3	9783	broad.mit.edu	37	chr1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccgccgcttcttggCggtggtggtcccagccccgc	1	9	14	17	4	1	0	0	0	1	0	3	0	3	0	5	4	2	3	5	4	0	2	rs149583022		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:41107474C>T	ENST00000372684.3	-	3	593	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.A42T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657																																						uc001cfu.1																			1	Substitution - Missense(1)	p.A42T(2)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(124-126)Gcc>Acc		Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	39	38	39		124	3.6	0.5	1	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	missense	RIMS3	NM_014747.2	58	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	benign	42/309	41107474	3,13001	2203	4299	6502	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41107474C>T	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.124G>A	1.37:g.41107474C>T	ENSP00000361769:p.Ala42Thr					RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		2	589	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	42					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.124G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368553	0.42003	4.54E-4	1.16E-4	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.36520	1.25;1.25	5.52	3.61	0.41365	.	0.398245	0.29587	N	0.011725	T	0.15046	0.0363	N	0.04203	-0.255	0.31819	N	0.626227	B	0.11235	0.004	B	0.04013	0.001	T	0.07693	-1.0759	10	0.34782	T	0.22	-14.4647	5.0493	0.14499	0.1685:0.661:0.0:0.1705	.	42	Q9UJD0	RIMS3_HUMAN	T	42	ENSP00000361769:A42T;ENSP00000361768:A42T	ENSP00000361768:A42T	A	-	1	0	RIMS3	40880061	0.976000	0.34144	0.544000	0.28141	0.749000	0.42624	2.542000	0.45744	0.659000	0.30945	0.655000	0.94253	GCC		0.657	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		T	41107474	C	T	41107474	3	4	222	1	0	0	0	0	1	0	0	0	13369	768	27	1	826	1	RIMS3	1	41107474	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	21939175	41107474	208143147	3	15439											
PTPRF	5792	broad.mit.edu	37	chr1	44069550	44069550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagttcgagaaggagatcagGacccccgaggacctgcccag	11	4	14	12	2	1	2	1	0	0	2	2	8	1	4	4	3	1	1	4	3	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:44069550G>A	ENST00000359947.4	+	16	3067	c.2727G>A	c.(2725-2727)agG>agA	p.R909R	PTPRF_ENST00000372414.3_Silent_p.R909R|PTPRF_ENST00000438120.1_Silent_p.R900R|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.R257R|PTPRF_ENST00000372413.3_Silent_p.R900R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	909	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAGATCAGGACCCCCGAGG	0.627																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(2725-2727)agG>agA		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							50	51	51					1																	44069550		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069550G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2727G>A	1.37:g.44069550G>A						PTPRF_uc001cjs.3_Silent_p.R900R|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.R469R|PTPRF_uc001cjv.3_Silent_p.R369R|PTPRF_uc001cjw.3_Silent_p.R135R	p.R909R	NM_002840	NP_002831	P10586	PTPRF_HUMAN			15	3067	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	909			Fibronectin type-III 6.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2727G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.404|7.404	0.633409|0.633409	0.14322|0.14322	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.03|5.03	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|T	0.35595|0.35595	0.0937|0.0937	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44907|0.44907	-0.9297|-0.9297	4|4	.|.	.|.	.|.	.|.	4.3659|4.3659	0.11225|0.11225	0.4824:0.3073:0.1098:0.1005|0.4824:0.3073:0.1098:0.1005	.|.	.|.	.|.	.|.	N|E	323|555	.|.	.|.	D|G	+|+	1|2	0|0	PTPRF|PTPRF	43842137|43842137	0.001000|0.001000	0.12720|0.12720	0.119000|0.119000	0.21687|0.21687	0.943000|0.943000	0.58893|0.58893	-1.342000|-1.342000	0.02645|0.02645	-1.545000|-1.545000	0.01719|0.01719	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA		0.627	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44069550	G	A	44069550	2	1	222	1	0	0	0	0	0	0	0	1	12801	1165	41	3		3	PTPRF	1	44069550	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	2962076	44069550	205181071	4	15440											
WLS	79971	broad.mit.edu	37	chr1	68603590	68603590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttggactgtgacgccGccccatttccaatggccttc	6	12	8	15	2	1	1	1	1	0	0	3	2	2	2	5	2	0	0	5	2	1	4	rs537667082		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:68603590G>A	ENST00000262348.4	-	11	1642	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	GNG12-AS1_ENST00000434072.1_RNA|WLS_ENST00000354777.2_Silent_p.G461G|WLS_ENST00000370976.3_Silent_p.G372G|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Silent_p.G463G	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	463					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTGACGCCGCCCCATTTCC	0.443													G|||	1	0.000199681	0	0.0014	5008	,	,		21392	0		0	False		,,,				2504	0					uc001dee.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1381-1383)ggC>ggT		Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.							93	86	89					1																	68603590		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68603590G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1389C>T	1.37:g.68603590G>A						GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.G463G|WLS_uc001deg.2_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	p.G461G	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN			10	1685	-			463					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.1383C>T	CCDS642.1																																																																																				0.443	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		A	68603590	G	A	68603590	2	1	222	1	0	0	0	0	0	0	0	1	17373	1074	38	1		1	WLS	1	68603590	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	24534040	68603590	180647031	5	15441											
ATP1A1	476	broad.mit.edu	37	chr1	116943788	116943788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgtggagttcacctgcCacacagccttcttcgtcagt	9	11	8	13	2	3	0	2	0	1	0	5	1	3	1	3	1	2	1	3	1	1	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:116943788C>T	ENST00000295598.5	+	20	3007	c.2755C>T	c.(2755-2757)Cac>Tac	p.H919Y	ATP1A1_ENST00000369496.4_Missense_Mutation_p.H888Y|ATP1A1_ENST00000537345.1_Missense_Mutation_p.H919Y	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	919					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTTCACCTGCCACACAGCCTT	0.532																																						uc001ege.3																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2755-2757)Cac>Tac		Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						89	77	81					1																	116943788		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116943788C>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2755C>T	1.37:g.116943788C>T	ENSP00000295598:p.His919Tyr					ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.2_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.2_Missense_Mutation_p.H888Y|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	p.H919Y	NM_000701	NP_001153706	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	19	3094	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	919					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2755C>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040846	0.55003	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.45285	1.41	0.80722	D	1	D;D	0.60160	0.987;0.978	P;D	0.62955	0.89;0.909	D	0.92475	0.5988	10	0.15066	T	0.55	.	18.3091	0.90193	0.0:1.0:0.0:0.0	.	919;919	F5H3A1;P05023	.;AT1A1_HUMAN	Y	919;88;919;888;86	ENSP00000295598:H919Y;ENSP00000445306:H919Y;ENSP00000358508:H888Y;ENSP00000396236:H86Y	ENSP00000295598:H919Y	H	+	1	0	ATP1A1	116745311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.933000	0.70130	2.640000	0.89533	0.591000	0.81541	CAC		0.532	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		T	116943788	C	T	116943788	3	4	222	1	0	0	0	0	1	0	0	0	1128	594	21	3	2849	3	ATP1A1	1	116943788	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	48340198	116943788	132306833	6	15442											
TBX15	6913	broad.mit.edu	37	chr1	119441665	119441665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccttgctgcttctgcAtggtggtgaagtcttcgaag	6	15	11	9	1	2	1	0	1	2	0	3	2	2	1	1	2	4	3	1	2	3	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:119441665A>G	ENST00000369429.3	-	7	1019	c.1010T>C	c.(1009-1011)aTg>aCg	p.M337T	TBX15_ENST00000207157.3_Missense_Mutation_p.M231T			Q96SF7	TBX15_HUMAN	T-box 15	337					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTTCTGCATGGTGGTGAA	0.527																																						uc001ehl.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(691-693)aTg>aCg		Homo sapiens T-box 15 (TBX15), mRNA.							130	110	117					1																	119441665		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119441665A>G	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1010T>C	1.37:g.119441665A>G	ENSP00000358437:p.Met337Thr					TBX15_uc009whj.1_Missense_Mutation_p.M22T	p.M231T	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	6	1007	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	337					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.692T>C		.	.	.	.	.	.	.	.	.	.	A	15.85	2.955879	0.53293	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;T	0.87491	-2.26;-2.16;-1.34	5.65	4.5	0.54988	.	0.235849	0.48767	D	0.000177	T	0.78336	0.4267	L	0.40543	1.245	0.58432	D	0.999996	P;P	0.48764	0.915;0.893	P;P	0.49361	0.608;0.53	T	0.75747	-0.3209	10	0.20519	T	0.43	.	12.2698	0.54700	0.8726:0.0:0.0:0.1274	.	101;337	E9PCG3;Q96SF7	.;TBX15_HUMAN	T	101;231;337;32;31	ENSP00000207157:M231T;ENSP00000358437:M337T;ENSP00000398625:M32T	ENSP00000207157:M231T	M	-	2	0	TBX15	119243188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.337000	0.90036	1.044000	0.40200	0.533000	0.62120	ATG		0.527	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		G	119441665	A	G	119441665	3	3	222	1	0	0	0	0	1	0	0	0	15649	217	8	4	806	4	TBX15	1	119441665	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	2497877	119441665	129808956	7	15443											
SV2A	9900	broad.mit.edu	37	chr1	149885276	149885276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatcttcgggaatattcGtcctggactctgtccaggcc	7	12	10	12	3	2	0	0	0	2	0	6	3	4	2	3	3	1	0	3	3	3	4	rs368036992		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.D39D(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542																																						uc001etg.3																			2	Substitution - coding silent(2)	p.D39D(4)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(115-117)gaC>gaT		Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	Levetiracetam(DB01202)	G		1,4405	2.1+/-5.4	0,1,2202	140	124	130		117	-10.4	0.4	1		130	0,8600		0,0,4300	no	coding-synonymous	SV2A	NM_014849.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		39/743	149885276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885276G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.117C>T	1.37:g.149885276G>A						SV2A_uc001eth.2_Silent_p.D39D	p.D39D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		1	608	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		39			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.117C>T	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149885276	G	A	149885276	2	1	222	1	0	0	0	0	0	0	0	1	15414	1136	40	1		1	SV2A	1	149885276	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	30443611	149885276	99365345	8	15444											
FLG	2312	broad.mit.edu	37	chr1	152283084	152283084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgactggccacgtgcGgactctttgtggctctgctg	3	12	12	14	2	2	1	0	1	2	0	3	2	3	2	3	3	2	2	3	3	0	1	rs375923587		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:152283084G>A	ENST00000368799.1	-	3	4313	c.4278C>T	c.(4276-4278)tcC>tcT	p.S1426S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1426	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGCGGACTCTTTGT	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4276-4278)tcC>tcT		Homo sapiens filaggrin (FLG), mRNA.		G		0,4406		0,0,2203	205	205	205		4278	-5.5	0	1		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1426/4062	152283084	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283084G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4278C>T	1.37:g.152283084G>A						AK056431_uc001ezv.3_5'Flank	p.S1426S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4314	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1426			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4278C>T	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283084	G	A	152283084	2	1	222	1	0	0	0	0	0	0	0	1	5922	1103	39	2		2	FLG	1	152283084	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	2397808	152283084	96967537	9	15445											
E2F6	1876	broad.mit.edu	37	chr2	11587770	11587770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttcctcagggccttctGgatgagtgctctcagatgaa	8	12	10	11	0	3	3	2	2	2	1	5	4	4	4	3	2	2	1	3	2	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:11587770G>A	ENST00000381525.3	-	6	1051	c.782C>T	c.(781-783)cCa>cTa	p.P261L	E2F6_ENST00000546212.1_Missense_Mutation_p.P186L|E2F6_ENST00000307236.4_Missense_Mutation_p.P229L|E2F6_ENST00000362009.4_3'UTR|E2F6_ENST00000542100.1_Missense_Mutation_p.P186L	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	261	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGGCCTTCTGGATGAGTGCT	0.398																																						uc002rbh.3																			0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8						c.(781-783)cCa>cTa		Homo sapiens E2F transcription factor 6 (E2F6), mRNA.							117	108	111					2																	11587770		1861	4089	5950	SO:0001583	missense	1876				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	g.chr2:11587770G>A	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.782C>T	2.37:g.11587770G>A	ENSP00000370936:p.Pro261Leu					E2F6_uc002rbg.3_Missense_Mutation_p.P186L|E2F6_uc002rbi.3_Missense_Mutation_p.P186L|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Missense_Mutation_p.P186L|E2F6_uc002rbf.3_Missense_Mutation_p.P229L	p.P261L	NM_198256	NP_937987	O75461	E2F6_HUMAN		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	5	1074	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		261			Transcription repression.		A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	ENST00000381525.3	37	c.782C>T	CCDS1680.2	.	.	.	.	.	.	.	.	.	.	G	8.991	0.977633	0.18812	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	T;T;T;T	0.11495	2.77;2.77;2.78;2.78	4.88	3.05	0.35203	.	7.874050	0.00669	N	0.000630	T	0.09113	0.0225	N	0.12182	0.205	0.20403	N	0.999909	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34775	-0.9815	10	0.41790	T	0.15	-2.078	10.5696	0.45192	0.162:0.0:0.838:0.0	.	261;229	O75461;G5E936	E2F6_HUMAN;.	L	261;229;186;186	ENSP00000370936:P261L;ENSP00000302159:P229L;ENSP00000446315:P186L;ENSP00000438864:P186L	ENSP00000302159:P229L	P	-	2	0	E2F6	11505221	0.003000	0.15002	0.001000	0.08648	0.164000	0.22412	1.276000	0.33156	0.564000	0.29238	0.655000	0.94253	CCA		0.398	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952		A	11587770	G	A	11587770	3	1	222	1	0	0	0	0	1	0	0	0	4871	1348	47	3	71	3	E2F6	2	11587770	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		11587770	231611603	10	15446											
MAP4K3	8491	broad.mit.edu	37	chr2	39509673	39509673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcactttaggtgttggaGgaagaccattactaataggc	12	11	11	7	0	0	1	0	0	0	1	0	3	0	3	1	4	2	2	1	4	5	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:39509673G>A	ENST00000263881.3	-	22	1934	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MAP4K3_ENST00000437545.1_Missense_Mutation_p.P453L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P516L|SNORA67_ENST00000516664.1_RNA|MAP4K3_ENST00000536018.1_Missense_Mutation_p.P90L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	537					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGTGTTGGAGGAAGACCATT	0.323																																						uc002rro.3																			0		p.L536I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1609-1611)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.							169	162	164					2																	39509673		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39509673G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1610C>T	2.37:g.39509673G>A	ENSP00000263881:p.Pro537Leu					MAP4K3_uc002rrp.3_Missense_Mutation_p.P516L|MAP4K3_uc010yns.2_Missense_Mutation_p.P90L	p.P537L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			21	1701	-		all_hematologic(82;0.211)	537					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1610C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267885	0.80469	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.78924	-1.22;-1.03;-1.18;1.7	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.983;0.999	D	0.89555	0.3802	10	0.87932	D	0	.	18.785	0.91951	0.0:0.0:1.0:0.0	.	516;537	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	L	537;453;516;90	ENSP00000263881:P537L;ENSP00000416958:P453L;ENSP00000345434:P516L;ENSP00000440580:P90L	ENSP00000263881:P537L	P	-	2	0	MAP4K3	39363177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.185000	0.94900	2.423000	0.82170	0.655000	0.94253	CCT		0.323	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		A	39509673	G	A	39509673	3	1	222	1	0	0	0	0	1	0	0	0	9261	1000	35	3	1126	3	MAP4K3	2	39509673	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	27921903	39509673	203689700	11	15447											
PPM1B	5495	broad.mit.edu	37	chr2	44428594	44428594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactactaacgaagactttAgggcagctggaaaatcagga	15	8	10	8	1	2	1	2	0	0	1	2	4	2	3	0	3	3	2	0	3	6	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:44428594A>G	ENST00000282412.4	+	2	668	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	PPM1B_ENST00000409895.4_Missense_Mutation_p.R86G|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Missense_Mutation_p.R86G|PPM1B_ENST00000378551.2_Missense_Mutation_p.R86G|PPM1B_ENST00000345249.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	86					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R86G(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGAAGACTTTAGGGCAGCTGG	0.383																																						uc002rtt.3																			1	Substitution - Missense(1)	p.R86G(2)|p.F85F(1)	large_intestine(1)	kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(256-258)Agg>Ggg		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.							106	104	105					2																	44428594		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428594A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.256A>G	2.37:g.44428594A>G	ENSP00000282412:p.Arg86Gly					PPM1B_uc002rts.3_Missense_Mutation_p.R86G|PPM1B_uc002rtu.3_Missense_Mutation_p.R86G|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.R86G|PPM1B_uc002rtx.3_Missense_Mutation_p.R86G	p.R86G	NM_002706	NP_002697	O75688	PPM1B_HUMAN			1	684	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	86					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.256A>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695192	0.30052	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.82	1.78	0.24846	Protein phosphatase 2C-like (5);	0.258660	0.47852	D	0.000211	T	0.09291	0.0229	N	0.05534	-0.03	0.37380	D	0.91199	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001	B;B;B;B;B	0.12156	0.004;0.002;0.004;0.007;0.003	T	0.14476	-1.0471	10	0.46703	T	0.11	-4.9526	13.0286	0.58829	0.6149:0.3851:0.0:0.0	.	86;86;86;86;86	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	G	86	ENSP00000390087:R86G;ENSP00000387341:R86G;ENSP00000387287:R86G;ENSP00000282412:R86G;ENSP00000367813:R86G;ENSP00000386982:R86G	ENSP00000282412:R86G	R	+	1	2	PPM1B	44282098	0.997000	0.39634	0.870000	0.34147	0.863000	0.49368	3.257000	0.51500	0.418000	0.25898	0.533000	0.62120	AGG		0.383	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		G	44428594	A	G	44428594	3	3	222	1	0	0	0	0	1	0	0	0	12336	411	15	4	258	4	PPM1B	2	44428594	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4918921	44428594	198770779	12	15448											
POU3F3	5455	broad.mit.edu	37	chr2	105473303	105473303	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggccgacagcctgcagctCgagaaggaggtggtgcgggt	7	6	18	10	3	0	1	0	0	0	1	1	4	0	2	2	5	4	2	2	5	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:105473303C>G	ENST00000361360.2	+	1	1335	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	445					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCAGCTCGAGAAGGAGG	0.642																																						uc010ywg.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1333-1335)ctC>ctG		Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.							38	40	39					2																	105473303		2203	4300	6503	SO:0001819	synonymous_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473303C>G		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1335C>G	2.37:g.105473303C>G							p.L445L	NM_006236	NP_006227	P20264	PO3F3_HUMAN			0	1335	+			445					P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.1335C>G	CCDS33265.1																																																																																				0.642	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			G	105473303	C	G	105473303	2	3	222	1	0	0	0	0	0	0	0	1	12276	871	31	5		5	POU3F3	2	105473303	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	61044709	105473303	137726070	13	15449											
MERTK	10461	broad.mit.edu	37	chr2	112786347	112786347	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggaatggggtctcctGgtcccattcgagcatgctgc	6	12	13	10	1	1	0	0	0	1	0	4	2	2	1	2	4	3	3	2	4	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:112786347G>A	ENST00000295408.4	+	19	3163	c.2906G>A	c.(2905-2907)tGg>tAg	p.W969*	MERTK_ENST00000409780.1_Nonsense_Mutation_p.W793*|MERTK_ENST00000421804.2_Nonsense_Mutation_p.W969*			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	969					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGGGTCTCCTGGTCCCATTCG	0.527																																						uc002thk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2905-2907)tGg>tAg		Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.							49	44	46					2																	112786347		2203	4300	6503	SO:0001587	stop_gained	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786347G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2906G>A	2.37:g.112786347G>A	ENSP00000295408:p.Trp969*					MERTK_uc002thl.1_Nonsense_Mutation_p.W793*	p.W969*	NM_006343	NP_006334	Q12866	MERTK_HUMAN			18	3028	+			969					Q9HBB4	Nonsense_Mutation	SNP	ENST00000295408.4	37	c.2906G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	38	7.056144	0.98032	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	.	.	.	5.95	5.95	0.96441	.	0.000000	0.31721	U	0.007170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9997	13.2162	0.59861	0.0731:0.0:0.9269:0.0	.	.	.	.	X	969;969;793	.	ENSP00000295408:W969X	W	+	2	0	MERTK	112502818	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	5.531000	0.67148	2.811000	0.96726	0.655000	0.94253	TGG		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			A	112786347	G	A	112786347	4	1	222	1	0	0	0	0	0	1	0	0	9479	1357	47	3	2980	3	MERTK	2	112786347	Nonsense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7313044	112786347	130413026	14	15450											
MCM6	4175	broad.mit.edu	37	chr2	136627932	136627932	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacaggtaagggtaaactCtgaaaaacaaaaaagtcagc	20	5	9	7	0	2	1	1	1	1	0	2	2	2	1	0	2	3	2	0	2	8	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:136627932C>G	ENST00000264156.2	-	3	315		c.e3-1			NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AGGGTAAACTCTGAAAAACAA	0.428																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.e3-1		Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	Atorvastatin(DB01076)						110	119	116					2																	136627932		2203	4300	6503	SO:0001630	splice_region_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136627932C>G		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.255-1G>C	2.37:g.136627932C>G							p.R85_splice	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	3	331	-			85					B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	37	c.255_splice	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473332	0.84640	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3903	0.94578	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM6	136344402	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.770000	0.85390	2.578000	0.87016	0.650000	0.86243	.		0.428	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	Intron	G	136627932	C	G	136627932	5	3	222	1	0	0	0	0	0	0	1	0	9391	927	32	5	2271	5	MCM6	2	136627932	Splice_Site	SNP	C	TCGA-32-1977-01A-01D-1353-08	23841585	136627932	106571441	15	15451											
ACVR1C	130399	broad.mit.edu	37	chr2	158412763	158412763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcccatactgtcagcatcGcagctatggacaggaggcaa	12	7	11	11	1	1	0	1	0	0	0	2	2	1	2	1	3	4	4	1	3	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:158412763G>A	ENST00000243349.8	-	3	746	c.386C>T	c.(385-387)gCg>gTg	p.A129V	ACVR1C_ENST00000409680.3_Missense_Mutation_p.A79V|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTCAGCATCGCAGCTATGGA	0.478																																						uc002tzk.4																			0		p.A129A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(385-387)gCg>gTg		Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.							103	82	89					2																	158412763		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158412763G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.386C>T	2.37:g.158412763G>A	ENSP00000243349:p.Ala129Val					ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.A79V	p.A129V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN			2	629	-			129						Missense_Mutation	SNP	ENST00000243349.8	37	c.386C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	6.151	0.396106	0.11638	.	.	ENSG00000123612	ENST00000243349;ENST00000409680	T;T	0.56444	0.46;0.46	5.73	4.86	0.63082	.	0.123358	0.36134	N	0.002774	T	0.37999	0.1024	L	0.38531	1.155	0.32199	N	0.578042	B	0.11235	0.004	B	0.08055	0.003	T	0.41161	-0.9524	10	0.13470	T	0.59	.	9.098	0.36651	0.2213:0.0:0.7787:0.0	.	129	Q8NER5	ACV1C_HUMAN	V	129;79	ENSP00000243349:A129V;ENSP00000387168:A79V	ENSP00000243349:A129V	A	-	2	0	ACVR1C	158121009	0.005000	0.15991	0.170000	0.22879	0.629000	0.37895	1.982000	0.40638	1.435000	0.47434	-0.143000	0.13931	GCG		0.478	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		A	158412763	G	A	158412763	3	1	222	1	0	0	0	0	1	0	0	0	222	1087	38	1	1123	1	ACVR1C	2	158412763	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	21784831	158412763	84786610	16	15452											
FAP	2191	broad.mit.edu	37	chr2	163070563	163070563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcagtaacccacgtgAgccaactgaaataataatca	16	9	6	10	1	3	2	3	2	0	0	3	2	3	2	2	0	3	2	2	0	5	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:163070563A>T	ENST00000188790.4	-	11	1094	c.887T>A	c.(886-888)cTc>cAc	p.L296H	FAP_ENST00000443424.1_Missense_Mutation_p.L271H	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACCCACGTGAGCCAACTGAA	0.368																																						uc002ucd.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(886-888)cTc>cAc		Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.							76	73	74					2																	163070563		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070563A>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.887T>A	2.37:g.163070563A>T	ENSP00000188790:p.Leu296His					FAP_uc010zct.2_Missense_Mutation_p.L271H|FAP_uc010fpe.1_Missense_Mutation_p.L263H	p.L296H	NM_004460	NP_004451	Q12884	SEPR_HUMAN			10	1095	-			296						Missense_Mutation	SNP	ENST00000188790.4	37	c.887T>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.766438	0.90020	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96716	-4.1;1.3	5.53	5.53	0.82687	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.289830	0.34460	N	0.003945	D	0.97081	0.9046	L	0.46157	1.445	0.48511	D	0.999662	P;D;D	0.64830	0.683;0.994;0.978	P;D;D	0.71184	0.563;0.955;0.972	D	0.97938	1.0324	10	0.87932	D	0	-26.6345	15.6579	0.77158	1.0:0.0:0.0:0.0	.	271;296;296	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	H	296;271	ENSP00000188790:L296H;ENSP00000411391:L271H	ENSP00000188790:L296H	L	-	2	0	FAP	162778809	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	8.688000	0.91260	2.107000	0.64212	0.533000	0.62120	CTC		0.368	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			T	163070563	A	T	163070563	3	4	222	1	0	0	0	0	1	0	0	0	5673	304	11	5	1459	5	FAP	2	163070563	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4657800	163070563	80128810	17	15453											
LRP2	4036	broad.mit.edu	37	chr2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatactgaactactgtgcGtctcgttttatcagctagcc	10	14	7	10	2	2	1	1	1	1	0	3	1	2	1	1	0	6	2	1	0	7	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:170115593G>A	ENST00000263816.3	-	17	2740	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_ENST00000443831.1_Missense_Mutation_p.R682C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	819					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R819C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACTACTGTGCGTCTCGTTTTA	0.398																																						uc002ues.3																			1	Substitution - Missense(1)	p.R819C(2)	large_intestine(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2455-2457)Cgc>Tgc		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						155	151	153					2																	170115593		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115593G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2455C>T	2.37:g.170115593G>A	ENSP00000263816:p.Arg819Cys					LRP2_uc010zdf.1_Missense_Mutation_p.R682C	p.R819C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2668	-			819					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2455C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392758	0.42410	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96856	-3.29;-4.15	5.77	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	0.049037	0.85682	N	0.000000	D	0.97657	0.9232	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97637	1.0146	10	0.72032	D	0.01	.	9.1112	0.36730	0.0763:0.0:0.6796:0.2441	.	682;819	E9PC35;P98164	.;LRP2_HUMAN	C	819;682	ENSP00000263816:R819C;ENSP00000409813:R682C	ENSP00000263816:R819C	R	-	1	0	LRP2	169823839	1.000000	0.71417	0.772000	0.31596	0.038000	0.13279	1.618000	0.36954	1.447000	0.47661	0.591000	0.81541	CGC		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170115593	G	A	170115593	3	1	222	1	0	0	0	0	1	0	0	0	8956	1145	40	1	11764	1	LRP2	2	170115593	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7045030	170115593	73083780	18	15454											
COL3A1	1281	broad.mit.edu	37	chr2	189867049	189867049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtgaaactggccctcCaggacctgctggtttccctg	7	9	13	12	0	0	2	0	1	0	1	2	4	2	3	4	4	2	2	4	4	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:189867049C>G	ENST00000304636.3	+	35	2587	c.2417C>G	c.(2416-2418)cCa>cGa	p.P806R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P806R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	806	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACTGGCCCTCCAGGACCTGCT	0.438																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2416-2418)cCa>cGa		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						124	118	120					2																	189867049		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189867049C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2417C>G	2.37:g.189867049C>G	ENSP00000304408:p.Pro806Arg						p.P806R	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		34	2534	+			806			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2417C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274738	0.40194	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95447	-3.71;-3.71	5.77	5.77	0.91146	.	0.000000	0.49916	D	0.000134	D	0.94823	0.8328	N	0.11341	0.13	0.58432	D	0.999994	D	0.71674	0.998	D	0.66979	0.948	D	0.95340	0.8437	10	0.45353	T	0.12	.	19.9926	0.97371	0.0:1.0:0.0:0.0	.	806	P02461	CO3A1_HUMAN	R	806	ENSP00000304408:P806R;ENSP00000315243:P806R	ENSP00000304408:P806R	P	+	2	0	COL3A1	189575294	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	3.896000	0.56266	2.729000	0.93468	0.467000	0.42956	CCA		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		G	189867049	C	G	189867049	3	3	222	1	0	0	0	0	1	0	0	0	3688	594	21	5	2555	5	COL3A1	2	189867049	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	19751456	189867049	53332324	19	15455											
MARCH4	57574	broad.mit.edu	37	chr2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtcattgaagagcatgCggcagcggcacttgaggaga	11	7	15	8	2	2	4	2	2	0	2	2	5	2	4	0	4	3	3	0	4	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:217234856C>T	ENST00000273067.4	-	1	1894	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	43						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652																																						uc002vgb.3																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(127-129)cGc>cAc		Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.							15	17	17					2																	217234856		2197	4297	6494	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234856C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.128G>A	2.37:g.217234856C>T	ENSP00000273067:p.Arg43His						p.R43H	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	0	1895	-		Renal(323;0.0854)	43					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.128G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875565	0.72180	.	.	ENSG00000144583	ENST00000273067	T	0.18174	2.23	5.24	5.24	0.73138	.	0.541556	0.21529	N	0.073071	T	0.28665	0.0710	L	0.32530	0.975	0.53688	D	0.999972	D	0.71674	0.998	P	0.57846	0.828	T	0.01102	-1.1451	10	0.66056	D	0.02	7.9439	17.9767	0.89129	0.0:1.0:0.0:0.0	.	43	Q9P2E8	MARH4_HUMAN	H	43	ENSP00000273067:R43H	ENSP00000273067:R43H	R	-	2	0	MARCH4	216943101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.721000	0.93114	0.591000	0.81541	CGC		0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		T	217234856	C	T	217234856	3	4	222	1	0	0	0	0	1	0	0	0	9303	768	27	1	1120	1	MARCH4	2	217234856	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	27367807	217234856	25964517	20	15456											
DIS3L2	129563	broad.mit.edu	37	chr2	233194556	233194556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctcttggccaacatGgcagtggcccacaagatcca	10	9	9	13	0	2	1	1	0	1	1	3	1	3	1	3	3	2	2	3	3	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:233194556G>C	ENST00000409307.1	+	14	1773	c.1773G>C	c.(1771-1773)atG>atC	p.M591I	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.M591I					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGGCCAACATGGCAGTGGCCC	0.657																																						uc010fxz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1771-1773)atG>atC		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.							26	30	28					2																	233194556		1975	4154	6129	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233194556G>C	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1773G>C	2.37:g.233194556G>C	ENSP00000386799:p.Met591Ile					DIS3L2_uc002vsm.4_Intron|DIS3L2_uc002vso.3_Non-coding_Transcript	p.M591I	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	14	2049	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	591						Missense_Mutation	SNP	ENST00000409307.1	37	c.1773G>C	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527968	0.44969	.	.	ENSG00000144535	ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.34472	1.36;1.36;1.36	5.28	4.4	0.53042	Ribonuclease II/R (2);	0.052750	0.64402	D	0.000001	T	0.20251	0.0487	N	0.11845	0.185	0.80722	D	1	B	0.17465	0.022	B	0.25140	0.058	T	0.04825	-1.0924	10	0.06891	T	0.86	-30.3989	13.3574	0.60635	0.0767:0.0:0.9233:0.0	.	591	Q8IYB7	DI3L2_HUMAN	I	591;591;591;226	ENSP00000315569:M591I;ENSP00000386799:M591I;ENSP00000415419:M226I	ENSP00000315569:M591I	M	+	3	0	DIS3L2	232902800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.178000	0.42519	1.232000	0.43678	0.544000	0.68410	ATG		0.657	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		C	233194556	G	C	233194556	3	2	222	1	0	0	0	0	1	0	0	0	4537	1348	47	5	1827	5	DIS3L2	2	233194556	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	15959700	233194556	10004817	21	15457											
ITIH4	3700	broad.mit.edu	37	chr3	52857940	52857940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagctgacgtcgaaacCgaagcccaggcagaagaggc	13	3	14	11	3	0	3	0	1	0	2	1	5	0	3	2	3	3	3	2	3	4	1	rs141154056	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:52857940C>T	ENST00000266041.4	-	10	1348	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.G330S|ITIH4_ENST00000406595.1_Missense_Mutation_p.G418S|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.G418S|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Missense_Mutation_p.G418S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	418	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACGTCGAAACCGAAGCCCAGG	0.612																																						uc011bem.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1252-1254)Ggt>Agt		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.		C	SER/GLY,SER/GLY	3,4403	6.2+/-15.9	0,3,2200	49	48	49		1252,1252	4.5	1	3	dbSNP_134	49	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	56,56	0,16,6487	TT,TC,CC		0.1512,0.0681,0.123	probably-damaging,probably-damaging	418/901,418/931	52857940	16,12990	2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857940C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1252G>A	3.37:g.52857940C>T	ENSP00000266041:p.Gly418Ser					ITIH4_uc011bel.2_Missense_Mutation_p.G148S|ITIH4_uc003dfy.3_Missense_Mutation_p.G282S|ITIH4_uc003dfz.3_Missense_Mutation_p.G418S|ITIH4_uc011ben.2_Missense_Mutation_p.G418S	p.G418S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	9	1280	-			418			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1252G>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.781228|4.781228	0.90282|0.90282	6.81E-4|6.81E-4	0.001512|0.001512	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	D;D;D;D;D|.	0.91464|.	-2.85;-2.85;-2.85;-2.85;-2.85|.	4.53|4.53	4.53|4.53	0.55603|0.55603	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000014|.	D|D	0.88658|0.88658	0.6496|0.6496	H|H	0.98218|0.98218	4.175|4.175	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.93338|0.93338	0.6707|0.6707	10|5	0.87932|.	D|.	0|.	-26.541|-26.541	16.8849|16.8849	0.86073|0.86073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	418;418;418;418|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	S|Q	418;418;418;418;406;330|275	ENSP00000266041:G418S;ENSP00000340520:G418S;ENSP00000417824:G418S;ENSP00000384425:G418S;ENSP00000440036:G330S|.	ENSP00000266041:G418S|.	G|R	-|-	1|2	0|0	ITIH4|ITIH4	52832980|52832980	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.523000|0.523000	0.34469|0.34469	7.417000|7.417000	0.80156|0.80156	2.070000|2.070000	0.61991|0.61991	0.462000|0.462000	0.41574|0.41574	GGT|CGG		0.612	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52857940	C	T	52857940	3	4	222	1	0	0	0	0	1	0	0	0	7906	652	23	2	1600	2	ITIH4	3	52857940	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		52857940	145164490	22	15458											
IL17RB	55540	broad.mit.edu	37	chr3	53891662	53891662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacaccagaagaaacaaaCgcgagcttcagtggtgattc	14	6	10	11	2	1	3	1	1	0	2	2	4	1	3	2	1	3	1	2	1	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:53891662C>T	ENST00000288167.3	+	8	701	c.692C>T	c.(691-693)aCg>aTg	p.T231M	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	231					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAGAAACAAACGCGAGCTTCA	0.517																																						uc003dha.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(691-693)aCg>aTg		Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.							151	131	138					3																	53891662		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53891662C>T	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.692C>T	3.37:g.53891662C>T	ENSP00000288167:p.Thr231Met						p.T231M	NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	7	731	+			231					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.692C>T	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	C	5.414	0.261490	0.10239	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.15256	3.18;2.44	4.3	0.334	0.15948	.	0.982720	0.08297	N	0.967545	T	0.15046	0.0363	L	0.45581	1.43	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.32613	-0.9900	10	0.36615	T	0.2	-3.1635	7.503	0.27528	0.0:0.6124:0.0:0.3876	.	231	Q9NRM6	I17RB_HUMAN	M	231;215	ENSP00000288167:T231M;ENSP00000418638:T215M	ENSP00000288167:T231M	T	+	2	0	IL17RB	53866702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.209000	0.09358	-0.059000	0.13154	-0.948000	0.02665	ACG		0.517	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		T	53891662	C	T	53891662	3	4	222	1	0	0	0	0	1	0	0	0	7640	536	19	1	722	1	IL17RB	3	53891662	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1033722	53891662	144130768	23	15459											
PTPRG	5793	broad.mit.edu	37	chr3	61975388	61975388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttagaccagtatgcgCgtgttggggaagaataccag	12	10	12	7	2	0	2	0	0	0	2	0	3	0	3	2	2	2	2	2	2	5	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:61975388C>T	ENST00000474889.1	+	3	657	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PTPRG_ENST00000295874.10_Missense_Mutation_p.R94C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	94	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R94C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGTATGCGCGTGTTGGGGA	0.488																																						uc003dlb.3																			1	Substitution - Missense(1)	p.R94C(2)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(280-282)Cgt>Tgt		Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.							117	107	110					3																	61975388		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61975388C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.280C>T	3.37:g.61975388C>T	ENSP00000418112:p.Arg94Cys					PTPRG_uc003dlc.3_Missense_Mutation_p.R94C	p.R94C	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	2	999	+			94			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.280C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914487	0.72983	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.69175	-0.38;-0.38	5.92	5.04	0.67666	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.537042	0.20086	N	0.099558	T	0.65852	0.2731	L	0.41906	1.305	0.42524	D	0.993019	D;D	0.67145	0.995;0.996	P;P	0.47376	0.528;0.545	T	0.70941	-0.4735	10	0.87932	D	0	.	16.5237	0.84324	0.1319:0.8681:0.0:0.0	.	94;94	P23470-2;P23470	.;PTPRG_HUMAN	C	94	ENSP00000418112:R94C;ENSP00000295874:R94C	ENSP00000295874:R94C	R	+	1	0	PTPRG	61950428	0.014000	0.17966	0.035000	0.18076	0.958000	0.62258	1.115000	0.31209	1.487000	0.48415	0.655000	0.94253	CGT		0.488	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	61975388	C	T	61975388	3	4	222	1	0	0	0	0	1	0	0	0	12802	768	27	1	290	1	PTPRG	3	61975388	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	8083726	61975388	136047042	24	15460											
C3orf30	152405	broad.mit.edu	37	chr3	118865302	118865302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacctggtcaggctggccGcagagcatccaaccctgctg	8	7	11	15	1	1	1	1	0	0	1	2	1	2	1	4	3	4	4	4	3	2	1	rs138666071		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:118865302G>A	ENST00000295622.1	+	1	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	89										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGGCTGGCCGCAGAGCATCC	0.502													G|||	1	0.000199681	0	0.0014	5008	,	,		24028	0		0	False		,,,				2504	0					uc003ecb.1																			0		p.G88C(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(265-267)cGc>cAc		Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.		G	HIS/ARG	0,4406		0,0,2203	52	46	48		266	-6.2	0	3	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf30	NM_152539.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	89/537	118865302	1,13005	2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865302G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.266G>A	3.37:g.118865302G>A	ENSP00000295622:p.Arg89His					IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R89H	p.R89H	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	0	306	+			89					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.266G>A	CCDS2984.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.512	-0.099652	0.07010	0.0	1.16E-4	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.22539	1.95	3.12	-6.25	0.02039	.	.	.	.	.	T	0.08179	0.0204	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26395	-1.0104	9	0.39692	T	0.17	.	2.3842	0.04362	0.359:0.1171:0.3927:0.1312	.	89;89	E9PFE5;Q96M34	.;CC030_HUMAN	H	89	ENSP00000295622:R89H	ENSP00000295622:R89H	R	+	2	0	C3orf30	120347992	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.964000	0.03833	-2.049000	0.00906	-1.119000	0.02030	CGC		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		A	118865302	G	A	118865302	3	1	222	1	0	0	0	0	1	0	0	0	2220	1087	38	1	268	1	C3orf30	3	118865302	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	56889914	118865302	79157128	25	15461											
OTOL1	131149	broad.mit.edu	37	chr3	161221595	161221595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctctcctcgtcatcttGaaattaagtgcaggagacca	10	11	8	12	1	3	2	1	1	2	1	6	3	4	2	3	1	1	1	3	1	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:161221595G>C	ENST00000327928.4	+	4	1299	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	433	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCGTCATCTTGAAATTAAGTG	0.468																																						uc011bpb.2																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(1297-1299)ttG>ttC		Homo sapiens otolin 1 (OTOL1), mRNA.							52	50	51					3																	161221595		1920	4128	6048	SO:0001583	missense	131149					collagen		g.chr3:161221595G>C		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1299G>C	3.37:g.161221595G>C	ENSP00000330808:p.Leu433Phe						p.L433F	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			3	1299	+			433			C1q.			Missense_Mutation	SNP	ENST00000327928.4	37	c.1299G>C	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443421	0.43429	.	.	ENSG00000182447	ENST00000327928	D	0.92249	-3.0	5.35	4.43	0.53597	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.162842	0.41605	D	0.000852	D	0.95370	0.8497	M	0.83774	2.66	0.37610	D	0.920882	D	0.89917	1.0	D	0.85130	0.997	D	0.95956	0.8958	10	0.87932	D	0	.	8.9267	0.35646	0.0905:0.2013:0.7082:0.0	.	433	A6NHN0	OTOL1_HUMAN	F	433	ENSP00000330808:L433F	ENSP00000330808:L433F	L	+	3	2	OTOL1	162704289	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	2.505000	0.45424	2.503000	0.84419	0.563000	0.77884	TTG		0.468	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		C	161221595	G	C	161221595	3	2	222	1	0	0	0	0	1	0	0	0	11304	1281	45	5	1313	5	OTOL1	3	161221595	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	42356293	161221595	36800835	26	15462											
TP63	8626	broad.mit.edu	37	chr3	189604307	189604307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcagcgcaacgccctcactCctacaaccattcctgatggc	10	7	7	17	2	1	1	1	1	0	0	3	1	3	1	4	1	5	2	4	1	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:189604307C>T	ENST00000264731.3	+	11	1563	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TP63_ENST00000456148.1_Missense_Mutation_p.P394S|TP63_ENST00000440651.2_Missense_Mutation_p.P488S|TP63_ENST00000392461.3_Missense_Mutation_p.P398S|TP63_ENST00000392460.3_Missense_Mutation_p.P492S|TP63_ENST00000354600.5_Missense_Mutation_p.P398S|TP63_ENST00000382063.4_Missense_Mutation_p.P407S|TP63_ENST00000449992.1_Missense_Mutation_p.P313S|TP63_ENST00000392463.2_Missense_Mutation_p.P398S|TP63_ENST00000320472.5_Missense_Mutation_p.P492S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	492					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCCCTCACTCCTACAACCAT	0.498										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1474-1476)Cct>Tct		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							119	97	104					3																	189604307		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189604307C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1474C>T	3.37:g.189604307C>T	ENSP00000264731:p.Pro492Ser	HNSCC(45;0.13)				TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc021xir.1_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	p.P492S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	10	1563	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		492					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1474C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664977	0.88251	.	.	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99795	-6.27;-6.78;-6.56;-6.28;-6.5;-6.2;-6.46;-6.63;-6.53;-6.21	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.29988	0.235;0.216;0.054;0.235;0.104;0.264	B;B;B;B;B;B	0.32928	0.131;0.122;0.09;0.131;0.155;0.109	D	0.99954	1.1594	9	.	.	.	-5.745	19.6603	0.95864	0.0:1.0:0.0:0.0	.	313;492;398;398;492;492	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	S	492;492;492;488;407;398;398;398;313;394	ENSP00000264731:P492S;ENSP00000317510:P492S;ENSP00000376253:P492S;ENSP00000394337:P488S;ENSP00000371495:P407S;ENSP00000346614:P398S;ENSP00000376256:P398S;ENSP00000376254:P398S;ENSP00000387839:P313S;ENSP00000389485:P394S	.	P	+	1	0	TP63	191087001	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.150000	0.77403	2.894000	0.99253	0.591000	0.81541	CCT		0.498	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189604307	C	T	189604307	3	4	222	1	0	0	0	0	1	0	0	0	16389	855	30	3	1681	3	TP63	3	189604307	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	28382712	189604307	8418123	27	15463											
FGFRL1	53834	broad.mit.edu	37	chr4	1019042	1019042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaagttgtaccccaaactCtacacagacatccacacaca	15	7	3	16	0	1	1	0	0	1	1	2	1	2	1	4	0	3	2	4	0	4	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:1019042C>T	ENST00000398484.2	+	8	2002	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	FGFRL1_ENST00000504138.1_Silent_p.L474L|FGFRL1_ENST00000510644.1_Silent_p.L474L|FGFRL1_ENST00000264748.6_Silent_p.L474L|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	474					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCCAAACTCTacacagaca	0.597																																						uc003gce.3																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1420-1422)ctC>ctT		Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.							16	18	17					4																	1019042		2189	4293	6482	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019042C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1422C>T	4.37:g.1019042C>T						FGFRL1_uc003gcf.3_Silent_p.L474L|FGFRL1_uc003gcg.3_Silent_p.L474L|FGFRL1_uc010ibo.3_Silent_p.L474L	p.L474L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1583	+			474					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.1422C>T	CCDS3344.1																																																																																				0.597	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		T	1019042	C	T	1019042	2	4	222	1	0	0	0	0	0	0	0	1	5869	900	32	3		3	FGFRL1	4	1019042	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		1019042	190135234	28	15464											
PCDH7	5099	broad.mit.edu	37	chr4	30725505	30725505	+	Frame_Shift_Del	DEL	G	G	-																															tgcacaggttggtggtgcaaGtgaatgacagtgggcagcct																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:30725505delG	ENST00000361762.2	+	1	3469	c.2461delG	c.(2461-2463)gtgfs	p.V821fs	PCDH7_ENST00000543491.1_Frame_Shift_Del_p.V821fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	821	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTGGTGCAAGTGAATGACAG	0.483																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2461-2463)gtgfs		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							55	53	54					4																	30725505		2203	4300	6503	SO:0001589	frameshift_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725505delG	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2461delG	4.37:g.30725505delG	ENSP00000355243:p.Val821fs					PCDH7_uc011bxx.2_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnd.1_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnc.1_Frame_Shift_Del_p.V821fs	p.V821fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	3469	+			821			Cadherin 7.		O60246|O60247|Q4W5C4	Frame_Shift_Del	DEL	ENST00000361762.2	37	c.2461delG	CCDS33971.1																																																																																				0.483	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		-	30725505	G	-	30725505	7	5	222	1	0	1	0	1	0	0	0	0	11516	1029	36	0	2463	0	PCDH7	4	30725505	Frame_Shift_Del	DEL	G	TCGA-32-1977-01A-01D-1353-08	29706463	30725505	160428771	29	15465											
CNGA1	1259	broad.mit.edu	37	chr4	47945299	47945299	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttcgtttttatcatcTgacttgctgaaaaaattaag	12	19	5	5	1	2	2	1	2	1	0	3	2	2	2	0	0	1	2	0	0	6	8			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:47945299T>A	ENST00000514170.1	-	8	667	c.348A>T	c.(346-348)tcA>tcT	p.S116S	CNGA1_ENST00000402813.3_Silent_p.S185S|CNGA1_ENST00000420489.2_Silent_p.S116S|CNGA1_ENST00000544810.1_Silent_p.S116S|CNGA1_ENST00000358519.4_Silent_p.S116S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	116					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTTATCATCTGACTTGCTGA	0.318																																						uc003gxu.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(553-555)tcA>tcT		Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.							32	29	30					4																	47945299		1752	3953	5705	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47945299T>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.348A>T	4.37:g.47945299T>A						BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.S116S|CNGA1_uc003gxv.1_Silent_p.S116S	p.S185S	NM_001142564	NP_000078	P29973	CNGA1_HUMAN			6	696	-			116					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.555A>T	CCDS43226.1																																																																																				0.318	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		A	47945299	T	A	47945299	2	1	222	1	0	0	0	0	0	0	0	1	3596	1567	55	5		5	CNGA1	4	47945299	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	17219794	47945299	143208977	30	15466											
UGT2B28	54490	broad.mit.edu	37	chr4	70160416	70160416	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaccactctttggatgtGattgggtttctgctggcctg	5	15	12	9	0	2	1	0	1	2	0	2	2	2	2	2	3	2	3	2	3	1	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:70160416G>T	ENST00000335568.5	+	6	1481	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	493					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTGGATGTGATTGGGTTTC	0.463																																						uc003hej.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1477-1479)gtG>gtT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						94	101	98					4																	70160416		2047	4236	6283	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160416G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1479G>T	4.37:g.70160416G>T						UGT2B28_uc010ihr.3_3'UTR	p.V493V	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1481	+			493					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1479G>T	CCDS3528.1																																																																																				0.463	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		T	70160416	G	T	70160416	2	4	222	1	0	0	0	0	0	0	0	1	16957	1277	45	5		5	UGT2B28	4	70160416	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	22215117	70160416	120993860	31	15467											
NAAA	27163	broad.mit.edu	37	chr4	76836138	76836138	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtagtataaattgtgaaGctgaaaattatgaggaaatt	17	12	9	3	1	0	3	0	3	0	0	0	4	0	4	1	1	1	3	1	1	9	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:76836138G>A	ENST00000286733.4	-	10	1100	c.999C>T	c.(997-999)aaC>aaT	p.N333N	NAAA_ENST00000399497.3_Intron|NAAA_ENST00000511606.1_Intron	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	333					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAATTGTGAAGCTGAAAATTA	0.408																																						uc003hjb.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.e10-1		Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.							109	100	103					4																	76836138		1830	4090	5920	SO:0001630	splice_region_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76836138G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.999-1C>T	4.37:g.76836138G>A						NAAA_uc003hja.3_Intron	p.N333_splice	NM_014435	NP_055250	Q02083	NAAA_HUMAN			10	1063	-			333					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.999_splice	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008123	0.35415	.	.	ENSG00000138744	ENST00000513045	.	.	.	5.38	-0.0148	0.13979	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27434	-1.0074	4	.	.	.	.	2.1054	0.03689	0.158:0.1218:0.4111:0.3091	.	.	.	.	V	128	.	.	A	-	2	0	NAAA	77055162	0.000000	0.05858	0.343000	0.25615	0.130000	0.20726	-0.440000	0.06888	0.278000	0.22164	0.655000	0.94253	GCT		0.408	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		Silent	A	76836138	G	A	76836138	5	1	222	1	0	0	0	0	0	0	1	0	10127	985	34	3	91	3	NAAA	4	76836138	Splice_Site	SNP	G	TCGA-32-1977-01A-01D-1353-08	6675722	76836138	114318138	32	15468											
SHROOM3	57619	broad.mit.edu	37	chr4	77661454	77661454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctgggaggaaagccgctCctgacctcgggagccatctg	8	6	13	14	2	1	1	0	1	1	0	3	4	2	4	5	3	2	1	5	3	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:77661454C>A	ENST00000296043.6	+	5	3081	c.2128C>A	c.(2128-2130)Cct>Act	p.P710T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	710					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAAGCCGCTCCTGACCTCGG	0.667																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2128-2130)Cct>Act		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							47	59	55					4																	77661454		2193	4287	6480	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661454C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2128C>A	4.37:g.77661454C>A	ENSP00000296043:p.Pro710Thr					SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.3_Missense_Mutation_p.P488T	p.P710T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	3081	+			710					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2128C>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	11.20	1.569848	0.28003	.	.	ENSG00000138771	ENST00000296043	T	0.33216	1.42	5.43	2.54	0.30619	.	1.463340	0.04328	N	0.351829	T	0.29817	0.0745	L	0.51422	1.61	0.09310	N	1	P;P;P	0.46277	0.875;0.875;0.875	B;B;B	0.39706	0.307;0.307;0.307	T	0.24693	-1.0153	10	0.25751	T	0.34	-0.8608	9.1012	0.36669	0.0:0.6482:0.2756:0.0762	.	534;710;488	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	T	710	ENSP00000296043:P710T	ENSP00000296043:P710T	P	+	1	0	SHROOM3	77880478	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	-0.127000	0.10547	0.632000	0.30432	0.558000	0.71614	CCT		0.667	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77661454	C	A	77661454	3	1	222	1	0	0	0	0	1	0	0	0	14295	855	30	5	2146	5	SHROOM3	4	77661454	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	825316	77661454	113492822	33	15469											
SEC24B	10427	broad.mit.edu	37	chr4	110437770	110437770	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatatttgacaattttgtgCcagtcactcctagaaaatct	12	14	7	8	0	2	2	1	1	1	1	3	3	3	3	2	1	1	0	2	1	5	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:110437770C>A	ENST00000265175.5	+	11	2155	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	SEC24B_ENST00000504968.2_Nonsense_Mutation_p.C730*|SEC24B_ENST00000399100.2_Nonsense_Mutation_p.C665*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	700					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318																																						uc003hzk.3																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2098-2100)tgC>tgA		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.							86	76	79					4																	110437770		1827	4095	5922	SO:0001587	stop_gained	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110437770C>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2100C>A	4.37:g.110437770C>A	ENSP00000265175:p.Cys700*					SEC24B_uc003hzl.3_Nonsense_Mutation_p.C665*|SEC24B_uc011cfp.2_Nonsense_Mutation_p.C730*|SEC24B_uc011cfq.2_Nonsense_Mutation_p.C699*|SEC24B_uc011cfr.2_Nonsense_Mutation_p.C664*	p.C700*	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	10	2155	+		Hepatocellular(203;0.217)	700					B7ZKM8|B7ZKN4|Q0VG08	Nonsense_Mutation	SNP	ENST00000265175.5	37	c.2100C>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	39	7.570528	0.98365	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	6.03	5.18	0.71444	.	0.089039	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2513	11.0101	0.47657	0.0:0.8571:0.0:0.1429	.	.	.	.	X	730;665;700	.	ENSP00000265175:C700X	C	+	3	2	SEC24B	110657219	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.826000	0.27407	1.552000	0.49463	0.655000	0.94253	TGC		0.318	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			A	110437770	C	A	110437770	4	1	222	1	0	0	0	0	0	1	0	0	13995	747	26	5	2142	5	SEC24B	4	110437770	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	32776316	110437770	80716506	34	15470											
LYSMD3	116068	broad.mit.edu	37	chr5	89821101	89821101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgattctgatgcctcccTgccataatgttaaaatctgg	10	13	7	11	1	2	1	0	1	2	0	3	2	3	1	3	1	3	1	3	1	4	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:89821101T>C	ENST00000315948.6	-	2	150	c.6A>G	c.(4-6)gcA>gcG	p.A2A	LYSMD3_ENST00000500869.2_Silent_p.A2A|LYSMD3_ENST00000509384.1_Silent_p.A2A	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	2						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GATGCCTCCCTGCCATAATGT	0.403																																						uc003kjr.3																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(4-6)gcA>gcG		Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.							55	54	54					5																	89821101		1848	4088	5936	SO:0001819	synonymous_variant	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89821101T>C	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.6A>G	5.37:g.89821101T>C						LYSMD3_uc010jaz.2_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	p.A2A	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	1	154	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	2					Q5H9U0|Q6PEK0|Q9NTE9	Silent	SNP	ENST00000315948.6	37	c.6A>G	CCDS43338.1																																																																																				0.403	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		C	89821101	T	C	89821101	2	2	222	1	0	0	0	0	0	0	0	1	9126	1567	55	4		4	LYSMD3	5	89821101	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08		89821101	91094159	35	15471											
C5orf36	285600	broad.mit.edu	37	chr5	93859726	93859726	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttagccattcaaagcagTcagttgttgtttgcagctgc	9	14	10	8	0	2	0	2	0	0	0	2	0	2	0	1	0	5	7	1	0	3	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:93859726T>G	ENST00000329378.7	-	4	458	c.209A>C	c.(208-210)gAc>gCc	p.D70A	KIAA0825_ENST00000513200.3_Missense_Mutation_p.D70A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.D70A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D70A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTCAAAGCAGTCAGTTGTTGT	0.318																																						uc011cuk.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(208-210)gAc>gCc		Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.							121	122	122					5																	93859726		2203	4299	6502	SO:0001583	missense	285600							g.chr5:93859726T>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.209A>C	5.37:g.93859726T>G	ENSP00000331385:p.Asp70Ala					KIAA0825_uc003kkp.2_Missense_Mutation_p.D70A	p.D70A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN			3	466	-			70					O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	c.209A>C	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094766	0.76870	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;T;T	0.57273	0.43;0.43;0.42;0.41	5.49	5.49	0.81192	.	0.523457	0.19998	N	0.101419	T	0.69815	0.3153	M	0.64997	1.995	0.38336	D	0.943934	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74799	-0.3542	10	0.72032	D	0.01	.	14.1514	0.65387	0.0:0.0:0.0:1.0	.	70;70	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	70	ENSP00000424618:D70A;ENSP00000400288:D70A;ENSP00000312205:D70A;ENSP00000331385:D70A	ENSP00000312205:D70A	D	-	2	0	KIAA0825	93885482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.572000	0.53849	2.090000	0.63153	0.528000	0.53228	GAC		0.318	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		G	93859726	T	G	93859726	3	3	222	1	0	0	0	0	1	0	0	0	2295	1667	58	5	3695	5	C5orf36	5	93859726	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	4038625	93859726	87055534	36	15472											
SLC27A6	28965	broad.mit.edu	37	chr5	128359401	128359401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgtattcatgtgaaaaAaggtaagacttctatttgaa	14	15	9	3	0	2	3	1	2	1	1	2	3	2	3	0	2	0	2	0	2	7	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:128359401A>G	ENST00000262462.4	+	6	2263	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	SLC27A6_ENST00000395266.1_Missense_Mutation_p.K418R|SLC27A6_ENST00000506176.1_Missense_Mutation_p.K418R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	418					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATGTGAAAAAAGGTAAGACT	0.398																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1252-1254)aAa>aGa		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							69	71	70					5																	128359401		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128359401A>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1253A>G	5.37:g.128359401A>G	ENSP00000262462:p.Lys418Arg					SLC27A6_uc003kuz.3_Missense_Mutation_p.K418R	p.K418R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	6	1649	+		all_cancers(142;0.0483)|Prostate(80;0.055)	418					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1253A>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.682023	0.29872	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.39997	1.05;1.05;1.05	3.97	2.76	0.32466	AMP-dependent synthetase/ligase (1);	0.721088	0.13814	N	0.360930	T	0.28995	0.0720	L	0.27975	0.815	0.43936	D	0.996595	B	0.06786	0.001	B	0.18871	0.023	T	0.04678	-1.0934	9	.	.	.	0.5293	10.9659	0.47412	0.8427:0.1573:0.0:0.0	.	418	Q9Y2P4	S27A6_HUMAN	R	418	ENSP00000262462:K418R;ENSP00000378684:K418R;ENSP00000421024:K418R	.	K	+	2	0	SLC27A6	128387300	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.490000	0.53245	0.831000	0.34780	0.460000	0.39030	AAA		0.398	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		G	128359401	A	G	128359401	3	3	222	1	0	0	0	0	1	0	0	0	14530	14	1	4	1275	4	SLC27A6	5	128359401	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	34499675	128359401	52555859	37	15473											
DOCK2	1794	broad.mit.edu	37	chr5	169097547	169097547	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgttttgtttccaacaggGcatttttcctaagtcattta	8	20	6	7	0	1	0	1	0	0	0	3	0	3	0	2	1	1	3	2	1	3	9			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:169097547G>A	ENST00000256935.8	+	4	250	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	57	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttCCAACAGGGCATTTTTCCT	0.348																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.e4-1		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							78	76	77					5																	169097547		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169097547G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.169-1G>A	5.37:g.169097547G>A						DOCK2_uc011der.2_Splice_Site	p.G57_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	249	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	57			SH3.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.169_splice	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020372	0.93462	.	.	ENSG00000134516	ENST00000256935	D	0.95518	-3.73	5.62	5.62	0.85841	Src homology-3 domain (3);Variant SH3 (1);	0.105434	0.64402	D	0.000004	D	0.98741	0.9577	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99410	1.0930	10	0.87932	D	0	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	57	Q92608	DOCK2_HUMAN	D	57	ENSP00000256935:G57D	ENSP00000256935:G57D	G	+	2	0	DOCK2	169030125	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.130000	0.89598	2.648000	0.89879	0.655000	0.94253	GGC		0.348	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation	A	169097547	G	A	169097547	5	1	222	1	0	0	0	0	0	0	1	0	4687	1217	42	3	184	3	DOCK2	5	169097547	Splice_Site	SNP	G	TCGA-32-1977-01A-01D-1353-08	40738146	169097547	11817713	38	15474											
C6orf114	54438	broad.mit.edu	37	chr6	13470477	13470477	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaagaagggcaattgcCggctcatgaagcacatccct	12	7	11	11	1	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	4	1	rs150464914		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:13470477C>T	ENST00000379287.3	-	1	918				AL583828.1_ENST00000558378.1_Silent_p.P12P|GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000603223.1_3'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGGCAATTGCCGGCTCATGAA	0.572																																						uc003nat.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18								Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.		C	,,	1,4405	2.1+/-5.4	0,1,2202	42	34	37		,,	-5.7	0	6	dbSNP_134	37	0,8600		0,0,4300	no	intron,utr-3,intron	GFOD1	NM_001242628.1,NM_001242629.1,NM_018988.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,	13470477	1,13005	2203	4300	6503	SO:0001627	intron_variant	85411					extracellular region	binding|oxidoreductase activity	g.chr6:13470477C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16392G>A	6.37:g.13470477C>T						GFOD1_uc003nas.2_Intron|GFOD1_uc003nau.3_Non-coding_Transcript|GFOD1_uc003nav.3_Non-coding_Transcript|GFOD1_uc021ylu.1_3'UTR		NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)				-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)						A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	ENST00000379287.3	37		CCDS4524.1																																																																																				0.572	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		T	13470477	C	T	13470477	1	4	222	0	1	0	0	0	0	0	0	0	2321	639	23	2		2	C6orf114	6	13470477	Intron	SNP	C	TCGA-32-1977-01A-01D-1353-08		13470477	157644590	39	15475											
PHF1	5252	broad.mit.edu	37	chr6	33382871	33382871	+	Frame_Shift_Del	DEL	C	C	-																															cctcagcagtgcgcaatcagCccgagccccaggagcagagg																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:33382871delC	ENST00000374516.3	+	12	1460	c.1189delC	c.(1189-1191)cccfs	p.P397fs	PHF1_ENST00000374512.3_Frame_Shift_Del_p.A393fs|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	397					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCGCAATCAGCCCGAGCCCCA	0.677											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oeh.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1189-1191)cccfs		Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.							31	34	33					6																	33382871		2202	4296	6498	SO:0001589	frameshift_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382871delC	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1189delC	6.37:g.33382871delC	ENSP00000363640:p.Pro397fs		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.3_Frame_Shift_Del_p.P197fs	p.P397fs	NM_024165	NP_077084	O43189	PHF1_HUMAN			11	1425	+		Ovarian(999;0.0443)	397					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL	ENST00000374516.3	37	c.1189delC	CCDS4777.1																																																																																				0.677	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			-	33382871	C	-	33382871	7	5	222	1	0	1	0	1	0	0	0	0	11820	739	26	0	1231	0	PHF1	6	33382871	Frame_Shift_Del	DEL	C	TCGA-32-1977-01A-01D-1353-08	19912394	33382871	137732196	40	15476											
ZNF76	7629	broad.mit.edu	37	chr6	35261624	35261624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatccccagtcctgatGccgacctggccacatctggc	7	8	8	18	1	2	1	1	1	1	0	4	2	4	1	7	2	1	0	7	2	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:35261624G>A	ENST00000373953.3	+	12	1692	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Missense_Mutation_p.A450T	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	476					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCTGATGCCGACCTGGC	0.627																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1426-1428)Gcc>Acc		Homo sapiens zinc finger protein 76 (ZNF76), mRNA.							110	95	100					6																	35261624		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35261624G>A	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1426G>A	6.37:g.35261624G>A	ENSP00000363064:p.Ala476Thr					ZNF76_uc003okj.1_Intron	p.A476T	NM_003427	NP_003418	P36508	ZNF76_HUMAN			11	1631	+			476					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1426G>A	CCDS4801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.945|5.945	0.358279|0.358279	0.11239|0.11239	.|.	.|.	ENSG00000065029|ENSG00000065029	ENST00000373953;ENST00000440666|ENST00000498555	T;T|.	0.09911|.	2.93;2.93|.	4.41|4.41	1.52|1.52	0.23074|0.23074	.|.	0.564845|.	0.14784|.	N|.	0.298652|.	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.13407|.	0.009|.	T|T	0.34179|0.34179	-0.9839|-0.9839	10|5	0.14252|.	T|.	0.57|.	.|.	6.7502|6.7502	0.23483|0.23483	0.3268:0.0:0.6732:0.0|0.3268:0.0:0.6732:0.0	.|.	476|.	P36508|.	ZNF76_HUMAN|.	T|I	476;450|8	ENSP00000363064:A476T;ENSP00000392243:A450T|.	ENSP00000363064:A476T|.	A|M	+|+	1|3	0|0	ZNF76|ZNF76	35369602|35369602	0.021000|0.021000	0.18746|0.18746	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	2.109000|2.109000	0.41863|0.41863	0.318000|0.318000	0.23185|0.23185	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.627	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		A	35261624	G	A	35261624	3	1	222	1	0	0	0	0	1	0	0	0	18132	1319	46	3	1468	3	ZNF76	6	35261624	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	1878753	35261624	135853443	41	15477											
DNAH8	1769	broad.mit.edu	37	chr6	38998047	38998047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagctgtatgtgtgtcCtatttacaagaaacccaggc	11	10	8	12	0	0	1	0	0	0	1	1	1	1	1	4	1	3	2	4	1	6	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:38998047C>G	ENST00000359357.3	+	91	13606	c.13352C>G	c.(13351-13353)cCt>cGt	p.P4451R	DNAH8_ENST00000441566.1_Missense_Mutation_p.P4415R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4451					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGTGTGTCCTATTTACAAG	0.507																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(14002-14004)cCt>cGt		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							135	128	130					6																	38998047		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38998047C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13352C>G	6.37:g.38998047C>G	ENSP00000352312:p.Pro4451Arg					DNAH8_uc003ooe.2_Missense_Mutation_p.P4451R	p.P4668R	NM_001206927	NP_001193856					92	14112	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.14003C>G		.	.	.	.	.	.	.	.	.	.	C	23.9	4.466165	0.84425	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.49720	0.77;0.77;0.77	5.15	5.15	0.70609	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90778	0.4677	10	0.87932	D	0	.	18.6417	0.91398	0.0:1.0:0.0:0.0	.	4451	Q96JB1	DYH8_HUMAN	R	4656;4451;4415	ENSP00000333363:P4656R;ENSP00000352312:P4451R;ENSP00000402294:P4415R	ENSP00000333363:P4656R	P	+	2	0	DNAH8	39106025	1.000000	0.71417	0.971000	0.41717	0.769000	0.43574	7.628000	0.83189	2.397000	0.81536	0.650000	0.86243	CCT		0.507	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38998047	C	G	38998047	3	3	222	1	0	0	0	0	1	0	0	0	4607	681	24	5	13706	5	DNAH8	6	38998047	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	3736423	38998047	132117020	42	15478											
COL10A1	1300	broad.mit.edu	37	chr6	116442546	116442546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacctggtgggccaattgGtcccatttctcccggaaaac	8	9	12	12	1	1	0	0	0	1	0	3	2	2	2	4	5	1	0	4	5	3	2	rs555747394		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:116442546G>T	ENST00000327673.4	-	2	1140	c.733C>A	c.(733-735)Cca>Aca	p.P245T	COL10A1_ENST00000243222.4_Missense_Mutation_p.P245T|AL121963.1_ENST00000430695.1_Missense_Mutation_p.G67V|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	245	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGGCCAATTGGTCCCATTTCT	0.597													G|||	1	0.000199681	0	0	5008	,	,		19167	0		0	False		,,,				2504	0.001					uc003pwm.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(733-735)Cca>Aca		Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.							56	61	60					6																	116442546		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442546G>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.733C>A	6.37:g.116442546G>T	ENSP00000327368:p.Pro245Thr					NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	p.P245T	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	829	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	245			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.733C>A	CCDS5105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.186|1.186	-0.636707|-0.636707	0.03557|0.03557	.|.	.|.	ENSG00000234188|ENSG00000123500	ENST00000430695|ENST00000243222;ENST00000327673	.|D;D	.|0.98666	.|-5.06;-5.06	5.52|5.52	1.62|1.62	0.23740|0.23740	.|.	.|0.518860	.|0.21857	.|N	.|0.068093	D|D	0.94450|0.94450	0.8214|0.8214	M|M	0.71036|0.71036	2.16|2.16	0.19300|0.19300	N|N	0.999974|0.999974	.|B	.|0.21606	.|0.058	.|B	.|0.18561	.|0.022	D|D	0.87072|0.87072	0.2160|0.2160	6|10	0.30854|0.13470	T|T	0.27|0.59	.|.	12.9604|12.9604	0.58455|0.58455	0.0635:0.4596:0.4768:0.0|0.0635:0.4596:0.4768:0.0	.|.	.|245	.|Q03692	.|COAA1_HUMAN	V|T	67|245	.|ENSP00000243222:P245T;ENSP00000327368:P245T	ENSP00000415795:G67V|ENSP00000243222:P245T	G|P	+|-	2|1	0|0	AL121963.1|COL10A1	116549239|116549239	0.999000|0.999000	0.42202|0.42202	0.004000|0.004000	0.12327|0.12327	0.033000|0.033000	0.12548|0.12548	2.599000|2.599000	0.46231|0.46231	0.070000|0.070000	0.16634|0.16634	0.563000|0.563000	0.77884|0.77884	GGT|CCA		0.597	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			T	116442546	G	T	116442546	3	4	222	1	0	0	0	0	1	0	0	0	3666	1261	44	5	1313	5	COL10A1	6	116442546	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	77444499	116442546	54672521	43	15479											
CRHR2	1395	broad.mit.edu	37	chr7	30695576	30695576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggatgtggtggacgcgCgtaactttgtcattaggatc	7	13	13	8	4	2	0	1	0	1	0	4	3	2	3	0	4	1	1	0	4	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:30695576C>T	ENST00000471646.1	-	9	1301	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CRHR2_ENST00000348438.4_Missense_Mutation_p.R322H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R281H|CRHR2_ENST00000506074.2_Missense_Mutation_p.R295H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	295					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTGGACGCGCGTAACTTTGT	0.552																																						uc003tbn.3																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(883-885)cGc>cAc		Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.							174	160	165					7																	30695576		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695576C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.884G>A	7.37:g.30695576C>T	ENSP00000418722:p.Arg295His					CRHR2_uc010kvw.2_Missense_Mutation_p.R295H|CRHR2_uc010kvx.2_Missense_Mutation_p.R294H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R131H|CRHR2_uc003tbo.3_Missense_Mutation_p.R281H|CRHR2_uc003tbp.3_Missense_Mutation_p.R322H	p.R295H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			8	1129	-			295					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.884G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524148	0.64747	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.71	3.83	0.44106	GPCR, family 2-like (1);	0.052609	0.64402	D	0.000001	T	0.62612	0.2442	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.993;0.998;0.988;0.988;0.997	T	0.65344	-0.6191	10	0.62326	D	0.03	.	10.8245	0.46625	0.0:0.9056:0.0:0.0944	.	294;295;322;281;295	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	H	295;322;281;295	ENSP00000418722:R295H;ENSP00000340943:R322H;ENSP00000344304:R281H;ENSP00000426498:R295H	ENSP00000344304:R281H	R	-	2	0	CRHR2	30662101	0.995000	0.38212	0.443000	0.26883	0.349000	0.29174	6.059000	0.71133	1.109000	0.41680	0.462000	0.41574	CGC		0.552	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			T	30695576	C	T	30695576	3	4	222	1	0	0	0	0	1	0	0	0	3872	768	27	1	367	1	CRHR2	7	30695576	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		30695576	128443087	44	15480											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74004217	74004217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agactcggggagaaggtgatCctgcgggagcaggtgaagga	11	5	19	6	2	0	4	0	2	0	2	2	7	1	6	1	6	2	1	1	6	2	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:74004217C>T	ENST00000265755.3	+	23	2796	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	GTF2IRD1_ENST00000424337.2_Silent_p.I786I|GTF2IRD1_ENST00000476977.1_Silent_p.I786I|GTF2IRD1_ENST00000455841.2_Silent_p.I818I	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	801					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAAGGTGATCCTGCGGGAGC	0.592																																						uc003uaq.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2401-2403)atC>atT		Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.							84	68	74					7																	74004217		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74004217C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2403C>T	7.37:g.74004217C>T						GTF2IRD1_uc010lbq.3_Silent_p.I818I|GTF2IRD1_uc003uap.3_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	p.I801I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			22	2796	+			801					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.2403C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391272	0.25118	.	.	ENSG00000006704	ENST00000470715	.	.	.	5.36	1.43	0.22495	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45542	-0.9254	4	.	.	.	-21.805	7.2967	0.26397	0.0:0.5019:0.0:0.4981	.	.	.	.	S	164	.	.	P	+	1	0	GTF2IRD1	73642153	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	0.659000	0.24994	0.399000	0.25367	-0.378000	0.06908	CCT		0.592	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		T	74004217	C	T	74004217	2	4	222	1	0	0	0	0	0	0	0	1	6868	845	30	3		3	GTF2IRD1	7	74004217	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	43308641	74004217	85134446	45	15481											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400762	117400762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttaagggtattttaagagCatctgttagaagagtaaaag	15	12	10	4	0	1	3	0	0	1	3	1	3	1	3	1	1	1	4	1	1	7	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:117400762C>A	ENST00000160373.3	-	10	2990	c.2899G>T	c.(2899-2901)Gct>Tct	p.A967S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	967					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTAAGAGCATCTGTTAGA	0.284																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2899-2901)Gct>Tct		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							62	64	63					7																	117400762		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400762C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2899G>T	7.37:g.117400762C>A	ENSP00000160373:p.Ala967Ser						p.A967S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	9	2991	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		967					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2899G>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.330748|3.330748	0.60853|0.60853	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.64438|.	-0.1|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Ankyrin repeat-containing domain (1);|.	0.406531|.	0.27645|.	N|.	0.018457|.	T|T	0.37433|0.37433	0.1003|0.1003	N|N	0.13168|0.13168	0.305|0.305	0.32500|0.32500	N|N	0.539032|0.539032	P|.	0.39759|.	0.687|.	B|.	0.34242|.	0.178|.	T|T	0.43940|0.43940	-0.9360|-0.9360	10|5	0.15952|.	T|.	0.53|.	-0.0297|-0.0297	14.1978|14.1978	0.65682|0.65682	0.1496:0.8504:0.0:0.0|0.1496:0.8504:0.0:0.0	.|.	967|.	Q8WZ74|.	CTTB2_HUMAN|.	S|F	967|454	ENSP00000160373:A967S|.	ENSP00000160373:A967S|.	A|C	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117187998|117187998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.784000|2.784000	0.47774|0.47774	2.635000|2.635000	0.89317|0.89317	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.284	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117400762	C	A	117400762	3	1	222	1	0	0	0	0	1	0	0	0	4045	710	25	5	2148	5	CTTNBP2	7	117400762	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	43396545	117400762	41737901	46	15482											
FLNC	2318	broad.mit.edu	37	chr7	128489530	128489530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggttgagaaccatgaCggtacctttgacatctacta	11	12	10	8	1	1	3	0	3	1	1	1	5	1	3	2	2	3	2	2	2	4	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:128489530C>G	ENST00000325888.8	+	30	5358	c.5097C>G	c.(5095-5097)gaC>gaG	p.D1699E	FLNC_ENST00000346177.6_Missense_Mutation_p.D1699E|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1699					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5095-5097)gaC>gaG		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							95	112	106					7																	128489530		2185	4259	6444	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489530C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5097C>G	7.37:g.128489530C>G	ENSP00000327145:p.Asp1699Glu					FLNC_uc003voa.4_Missense_Mutation_p.D1699E	p.D1699E	NM_001458	NP_001449	Q14315	FLNC_HUMAN			29	5306	+			1699					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5097C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698773	0.68501	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.93547	-3.24;-3.24	5.28	-7.05	0.01573	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.73430	2.235	0.33004	D	0.526667	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.93387	0.6748	10	0.87932	D	0	.	11.5286	0.50595	0.0:0.4798:0.0867:0.4336	.	1699;1699	Q14315-2;Q14315	.;FLNC_HUMAN	E	1699	ENSP00000327145:D1699E;ENSP00000344002:D1699E	ENSP00000327145:D1699E	D	+	3	2	FLNC	128276766	0.000000	0.05858	0.306000	0.25113	0.912000	0.54170	-4.882000	0.00174	-1.112000	0.02984	-0.415000	0.06103	GAC		0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			G	128489530	C	G	128489530	3	3	222	1	0	0	0	0	1	0	0	0	5935	535	19	5	5215	5	FLNC	7	128489530	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	11088768	128489530	30649133	47	15483											
MEST	4232	broad.mit.edu	37	chr7	130140656	130140656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctttgggccgtataCtcggccctctgagagtgagc	6	10	12	13	2	2	2	0	2	2	1	3	3	2	2	3	2	2	1	3	2	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:130140656C>G	ENST00000223215.4	+	9	895	c.674C>G	c.(673-675)aCt>aGt	p.T225S	MEST_ENST00000341441.5_Missense_Mutation_p.T216S|MEST_ENST00000378576.4_Intron|MEST_ENST00000416162.2_Intron|MEST_ENST00000393187.1_Missense_Mutation_p.T216S|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.T225S|hsa-mir-335_ENST00000604666.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	225					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGGCCGTATACTCGGCCCTCT	0.498																																					Colon(126;2182 2305 6517 35181)	uc003vqg.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(673-675)aCt>aGt		Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.							74	65	68					7																	130140656		2203	4300	6503	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130140656C>G		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.674C>G	7.37:g.130140656C>G	ENSP00000223215:p.Thr225Ser					MEST_uc003vqc.3_Missense_Mutation_p.T216S|MEST_uc003vqd.3_Intron|MEST_uc022alp.1_Intron|MEST_uc003vqf.3_Missense_Mutation_p.T216S|MEST_uc011kph.2_Missense_Mutation_p.T211S	p.T225S	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			8	930	+	Melanoma(18;0.0435)		225					B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.674C>G	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913306	0.92178	.	.	ENSG00000106484	ENST00000341441;ENST00000393187;ENST00000223215;ENST00000437945	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	L	0.55834	1.745	0.80722	D	1	P;D;D	0.76494	0.756;0.999;0.997	P;D;D	0.83275	0.587;0.996;0.994	T	0.01587	-1.1318	10	0.27082	T	0.32	-16.9313	19.3527	0.94395	0.0:1.0:0.0:0.0	.	211;225;225	B4DQW6;C9JW74;Q5EB52	.;.;MEST_HUMAN	S	216;216;225;225	ENSP00000342749:T216S;ENSP00000376884:T216S;ENSP00000223215:T225S;ENSP00000401657:T225S	ENSP00000223215:T225S	T	+	2	0	MEST	129927892	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	7.159000	0.77483	2.821000	0.97095	0.561000	0.74099	ACT		0.498	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		G	130140656	C	G	130140656	3	3	222	1	0	0	0	0	1	0	0	0	9484	565	20	5	708	5	MEST	7	130140656	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1651126	130140656	28998007	48	15484											
BPGM	669	broad.mit.edu	37	chr7	134346605	134346605	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaagtgaggctctggAgaagaagctacaatgtaacc	17	6	11	7	0	1	4	0	1	1	3	1	5	1	4	1	2	4	3	1	2	8	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:134346605A>T	ENST00000393132.2	+	3	835	c.346A>T	c.(346-348)Aga>Tga	p.R116*	BPGM_ENST00000344924.3_Nonsense_Mutation_p.R116*|BPGM_ENST00000418040.1_Nonsense_Mutation_p.R116*	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	116	2,3-diphosphoglyceric acid binding.				carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GAGGCTCTGGAGAAGAAGCTA	0.493																																						uc003vrv.3																			0				breast(1)|endometrium(1)|lung(2)|stomach(1)	5						c.(346-348)Aga>Tga		Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.							83	73	76					7																	134346605		2203	4300	6503	SO:0001587	stop_gained	669				glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chr7:134346605A>T	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.346A>T	7.37:g.134346605A>T	ENSP00000376840:p.Arg116*					BPGM_uc003vrw.3_Nonsense_Mutation_p.R116*	p.R116*	NM_199186	NP_954655	P07738	PMGE_HUMAN			2	887	+			116					A4D1N9	Nonsense_Mutation	SNP	ENST00000393132.2	37	c.346A>T	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	A	37	6.196200	0.97367	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0223	11.88	0.52568	0.7338:0.2661:0.0:0.0	.	.	.	.	X	116	.	ENSP00000342032:R116X	R	+	1	2	BPGM	133997145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.052000	0.57420	2.304000	0.77564	0.528000	0.53228	AGA		0.493	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	NM_001724		T	134346605	A	T	134346605	4	4	222	1	0	0	0	0	0	1	0	0	1488	296	11	5	348	5	BPGM	7	134346605	Nonsense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4205949	134346605	24792058	49	15485											
CNTNAP2	26047	broad.mit.edu	37	chr7	147336290	147336290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatactcagtgacacagctcGtttacagcgcctccatggac	11	9	8	13	2	1	1	1	1	0	0	3	2	2	2	2	1	4	2	2	1	3	3	rs201934244	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:147336290G>A	ENST00000361727.3	+	13	2506	c.1990G>A	c.(1990-1992)Gtt>Att	p.V664I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	664	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACACAGCTCGTTTACAGCGC	0.498										HNSCC(39;0.1)			G|||	2	0.000399361	0	0	5008	,	,		17456	0.001		0.001	False		,,,				2504	0					uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1990-1992)Gtt>Att		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							149	129	136					7																	147336290		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336290G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1990G>A	7.37:g.147336290G>A	ENSP00000354778:p.Val664Ile	HNSCC(39;0.1)					p.V664I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2506	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	664			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1990G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472598	0.26423	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13901	2.55;2.55	5.74	-8.23	0.01033	.	0.270973	0.32719	N	0.005740	T	0.04952	0.0133	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.34782	T	0.22	.	13.7415	0.62852	0.7906:0.0915:0.1178:0.0	.	664	Q9UHC6	CNTP2_HUMAN	I	664;55	ENSP00000354778:V664I;ENSP00000392208:V55I	ENSP00000354778:V664I	V	+	1	0	CNTNAP2	146967223	0.022000	0.18835	0.000000	0.03702	0.383000	0.30230	0.561000	0.23515	-1.566000	0.01673	0.561000	0.74099	GTT		0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147336290	G	A	147336290	3	1	222	1	0	0	0	0	1	0	0	0	3647	1145	40	1	2040	1	CNTNAP2	7	147336290	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12989685	147336290	11802373	50	15486											
DPYSL2	1808	broad.mit.edu	37	chr8	26510765	26510765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctggctgagctgagaggGgttcctcgtggcctgtatga	6	10	16	9	1	0	3	0	3	0	1	2	4	1	3	2	4	2	5	2	4	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:26510765G>A	ENST00000311151.5	+	13	1891	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	DPYSL2_ENST00000521913.1_Silent_p.G457G|DPYSL2_ENST00000523027.1_Silent_p.G457G	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	493					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCTGAGAGGGGTTCCTCGTG	0.602																																						uc003xfb.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(1477-1479)ggG>ggA		Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.							168	158	161					8																	26510765		2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26510765G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1479G>A	8.37:g.26510765G>A						DPYSL2_uc003xfa.3_Silent_p.G598G|DPYSL2_uc011lah.2_Silent_p.G457G	p.G493G	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	12	1910	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	493					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.1479G>A	CCDS6051.1																																																																																				0.602	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		A	26510765	G	A	26510765	2	1	222	1	0	0	0	0	0	0	0	1	4747	1219	43	3		3	DPYSL2	8	26510765	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		26510765	119853257	51	15487											
FBXL6	26233	broad.mit.edu	37	chr8	145579316	145579316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttgaggtagagcaggcCcgggcagctgctgatcacag	9	6	16	10	1	1	3	1	2	0	1	1	3	1	3	1	4	3	6	1	4	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:145579316C>G	ENST00000331890.5	-	9	1559	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|TMEM249_ENST00000531225.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.G493R|SLC52A2_ENST00000329994.2_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	499					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TAGAGCAGGCCCGGGCAGCTG	0.657																																						uc003zcb.3																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1495-1497)Ggc>Cgc		Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.							27	29	29					8																	145579316		2197	4298	6495	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579316C>G	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1495G>C	8.37:g.145579316C>G	ENSP00000330098:p.Gly499Arg					C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.G226R|FBXL6_uc003zca.3_Missense_Mutation_p.G493R|FBXL6_uc010mfx.3_Missense_Mutation_p.G260R|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	p.G499R	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1571	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		499					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1495G>C	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028485	0.54790	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.16324	5.57;2.35	4.94	3.12	0.35913	.	0.358605	0.23744	N	0.045000	T	0.10680	0.0261	N	0.17474	0.49	0.36469	D	0.867121	P;P	0.44429	0.745;0.835	B;B	0.42798	0.224;0.398	T	0.19353	-1.0308	10	0.42905	T	0.14	-21.6895	6.9134	0.24347	0.0:0.792:0.0:0.208	.	499;493	Q8N531;Q8N531-2	FBXL6_HUMAN;.	R	493;499	ENSP00000403873:G493R;ENSP00000330098:G499R	ENSP00000330098:G499R	G	-	1	0	FBXL6	145550124	0.914000	0.31030	0.924000	0.36721	0.802000	0.45316	1.717000	0.37991	1.072000	0.40860	0.467000	0.42956	GGC		0.657	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		G	145579316	C	G	145579316	3	3	222	1	0	0	0	0	1	0	0	0	5723	623	22	5	128	5	FBXL6	8	145579316	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	119068551	145579316	784706	52	15488											
IFT74	80173	broad.mit.edu	37	chr9	26984346	26984346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcagtatatttgtcatatGaaaagaggtgagtaataagt	16	14	9	2	0	2	3	2	2	0	1	2	3	2	3	0	1	0	2	0	1	7	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:26984346G>C	ENST00000443698.1	+	5	568	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	IFT74_ENST00000429045.2_Missense_Mutation_p.E133Q|IFT74_ENST00000380062.5_Missense_Mutation_p.E133Q|IFT74_ENST00000433700.1_Missense_Mutation_p.E133Q	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	133					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTGTCATATGAAAAGAGGTG	0.264																																						uc010mja.3																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(397-399)Gaa>Caa		Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.							38	40	39					9																	26984346		1792	4045	5837	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26984346G>C	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.397G>C	9.37:g.26984346G>C	ENSP00000404122:p.Glu133Gln					IFT74_uc010mjb.3_Missense_Mutation_p.E133Q|IFT74_uc003zqf.4_Missense_Mutation_p.E133Q|IFT74_uc003zqg.4_Missense_Mutation_p.E133Q	p.E133Q	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	4	524	+		all_neural(11;2.36e-10)	133					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.397G>C	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377903	0.82682	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	T;T;T;T;T;T	0.58210	0.35;1.19;1.19;1.19;1.19;1.19	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.976	T	0.68823	-0.5307	10	0.29301	T	0.29	-21.8139	14.5819	0.68298	0.0:0.0:0.8539:0.1461	.	133;133	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	Q	133;133;133;133;133;133;95	ENSP00000430004:E133Q;ENSP00000389224:E133Q;ENSP00000404122:E133Q;ENSP00000369402:E133Q;ENSP00000393907:E133Q;ENSP00000430742:E95Q	ENSP00000369402:E133Q	E	+	1	0	IFT74	26974346	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.359000	0.97115	2.674000	0.91012	0.585000	0.79938	GAA		0.264	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		C	26984346	G	C	26984346	3	2	222	1	0	0	0	0	1	0	0	0	7563	1291	45	5	411	5	IFT74	9	26984346	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		26984346	114229085	53	15489											
GAPVD1	26130	broad.mit.edu	37	chr9	128069702	128069702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttttaacagagctgtgttgCcgctttccttgatgttgtga	6	17	11	7	1	0	3	0	2	0	1	1	3	1	3	2	0	3	5	2	0	1	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:128069702C>A	ENST00000495955.1	+	7	1417	c.1127C>A	c.(1126-1128)gCc>gAc	p.A376D	GAPVD1_ENST00000394084.1_Missense_Mutation_p.A376D|GAPVD1_ENST00000394105.2_Missense_Mutation_p.A376D|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A376D|GAPVD1_ENST00000470056.1_Missense_Mutation_p.A376D|GAPVD1_ENST00000312123.9_Missense_Mutation_p.A376D|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A376D|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A376D|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A376D			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	376					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTGTGTTGCCGCTTTCCTT	0.408																																						uc004bpp.3																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1126-1128)gCc>gAc		Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.							50	49	50					9																	128069702		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128069702C>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1127C>A	9.37:g.128069702C>A	ENSP00000419063:p.Ala376Asp					GAPVD1_uc004bpo.3_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwx.3_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.3_Missense_Mutation_p.A376D|GAPVD1_uc004bps.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	p.A376D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			4	1287	+			376					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.1127C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.4|27.4|27.4	4.829504|4.829504|4.829504	0.90955|0.90955|0.90955	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712|ENST00000431329	T;T;T;T;T;T;T;T;T;T|.|.	0.81415|.|.	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49|.|.	5.17|5.17|5.17	5.17|5.17|5.17	0.71159|0.71159|0.71159	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|.|T	0.54549|.|0.54549	0.1865|.|0.1865	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D|.|.	0.89917|.|.	0.999;0.998;0.999;0.999;0.999;1.0;0.964|.|.	D;D;D;D;D;D;P|.|.	0.83275|.|.	0.994;0.987;0.991;0.994;0.994;0.996;0.532|.|.	T|.|T	0.49476|.|0.49476	-0.8936|.|-0.8936	10|.|5	0.56958|.|.	D|.|.	0.05|.|.	.|.|.	18.0112|18.0112|18.0112	0.89224|0.89224|0.89224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	376;376;376;376;376;376;376|.|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65|.|.	.;GAPD1_HUMAN;.;.;.;.;.|.|.	D|X|T	376|206|239	ENSP00000377646:A376D;ENSP00000419767:A376D;ENSP00000377665:A376D;ENSP00000377664:A376D;ENSP00000265956:A376D;ENSP00000377645:A376D;ENSP00000419063:A376D;ENSP00000418747:A376D;ENSP00000297933:A376D;ENSP00000309582:A376D|.|.	ENSP00000265956:A376D|.|.	A|C|P	+|+|+	2|3|1	0|2|0	GAPVD1|GAPVD1|GAPVD1	127109523|127109523|127109523	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.587000|7.587000|7.587000	0.82613|0.82613|0.82613	2.571000|2.571000|2.571000	0.86741|0.86741|0.86741	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|TGC|CCG		0.408	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128069702	C	A	128069702	3	1	222	1	0	0	0	0	1	0	0	0	6239	739	26	5	1141	5	GAPVD1	9	128069702	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	101085356	128069702	13143729	54	15490											
SLC2A6	11182	broad.mit.edu	37	chr9	136338317	136338317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacgccacgggcacgcagGggcaggacctcagacatgag	10	2	15	14	3	1	2	1	1	0	1	1	3	1	3	3	4	0	3	3	4	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:136338317G>A	ENST00000371899.4	-	9	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.P364P	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	426					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGGCACGCAGGGGCAGGACCT	0.672																																						uc004cee.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(1276-1278)ccC>ccT		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.							42	35	37					9																	136338317		2196	4296	6492	SO:0001819	synonymous_variant	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136338317G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1278C>T	9.37:g.136338317G>A						SLC2A6_uc004cef.3_Silent_p.P364P|SLC2A6_uc004ceg.3_Silent_p.P403P	p.P426P	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	8	1373	-			426					A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	c.1278C>T	CCDS6975.1																																																																																				0.672	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		A	136338317	G	A	136338317	2	1	222	1	0	0	0	0	0	0	0	1	14549	1219	43	3		3	SLC2A6	9	136338317	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	8268615	136338317	4875114	55	15491											
SLC18A3	6572	broad.mit.edu	37	chr10	50820049	50820049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtctatggcagcgtctaCgccatcgccgacatctccta	8	10	8	15	4	4	0	1	0	3	0	6	1	4	0	3	1	2	1	3	1	3	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:50820049C>T	ENST00000374115.3	+	1	1703	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	421					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCAGCGTCTACGCCATCGCCG	0.622																																						uc001jhw.3																			0		p.V420I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1261-1263)taC>taT		Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.							48	39	42					10																	50820049		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820049C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1263C>T	10.37:g.50820049C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.Y421Y	NM_003055	NP_003046	Q16572	VACHT_HUMAN			0	1703	+			421					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1263C>T	CCDS7231.1																																																																																				0.622	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		T	50820049	C	T	50820049	2	4	222	1	0	0	0	0	0	0	0	1	14427	547	19	1		1	SLC18A3	10	50820049	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		50820049	84714698	56	15492											
TMEM26	219623	broad.mit.edu	37	chr10	63212688	63212688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaacttgagggtgagcGcagtctccaggaagagcaag	11	7	15	8	1	1	4	0	3	1	1	2	5	1	5	1	2	3	3	1	2	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:63212688G>A	ENST00000399298.3	-	1	520	c.152C>T	c.(151-153)gCg>gTg	p.A51V	TMEM26_ENST00000399293.1_Missense_Mutation_p.A51V|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	51						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGGTGAGCGCAGTCTCCAG	0.642																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(151-153)gCg>gTg		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.							74	86	82					10																	63212688		2041	4183	6224	SO:0001583	missense	219623					integral to membrane		g.chr10:63212688G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.152C>T	10.37:g.63212688G>A	ENSP00000382237:p.Ala51Val					TMEM26_uc001jlq.3_Non-coding_Transcript|BC041470_uc001jlr.3_Non-coding_Transcript	p.A51V	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			0	521	-	Prostate(12;0.0112)		51					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.152C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066628	0.20067	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.33	-0.2	0.13216	.	0.652062	0.15576	N	0.255184	T	0.12050	0.0293	N	0.02765	-0.5	0.25197	N	0.990086	B	0.13594	0.008	B	0.14023	0.01	T	0.32903	-0.9889	9	0.11794	T	0.64	-22.7346	6.3446	0.21343	0.3276:0.2583:0.4141:0.0	.	51	Q6ZUK4	TMM26_HUMAN	V	51	.	ENSP00000382232:A51V	A	-	2	0	TMEM26	62882694	0.692000	0.27719	0.730000	0.30809	0.381000	0.30169	0.133000	0.15912	-0.207000	0.10187	-0.302000	0.09304	GCG		0.642	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		A	63212688	G	A	63212688	3	1	222	1	0	0	0	0	1	0	0	0	16148	1087	38	1	978	1	TMEM26	10	63212688	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12392639	63212688	72322059	57	15493											
ZNF365	22891	broad.mit.edu	37	chr10	64159484	64159484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcctggggtttggccGcaaaggcaacatcaggccca	9	6	14	12	1	1	0	1	0	0	0	2	1	2	1	3	6	2	4	3	6	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:64159484G>A	ENST00000395254.3	+	5	1440	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTTGGCCGCAAAGGCAAC	0.537																																						uc001jmc.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27								Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.							57	56	56					10																	64159484		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159484G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1160G>A	10.37:g.64159484G>A	ENSP00000378674:p.Arg387His					ZNF365_uc001jly.4_Missense_Mutation_p.R402H|ZNF365_uc001jmb.4_Intron|ZNF365_uc001jlz.4_Missense_Mutation_p.R387H|ZNF365_uc001jma.4_Non-coding_Transcript		NM_199451	NP_955523	Q70YC4	TALAN_HUMAN					+	Prostate(12;0.0297)|all_hematologic(501;0.228)								Missense_Mutation	SNP	ENST00000395254.3	37		CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785236	0.90282	.	.	ENSG00000138311	ENST00000395254	T	0.63255	-0.03	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	H	387	ENSP00000378674:R387H	ENSP00000378674:R387H	R	+	2	0	ZNF365	63829490	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	5.479000	0.66813	2.745000	0.94114	0.655000	0.94253	CGC		0.537	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		A	64159484	G	A	64159484	3	1	222	1	0	0	0	0	1	0	0	0	17866	1087	38	1	1174	1	ZNF365	10	64159484	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	946796	64159484	71375263	58	15494											
VCL	7414	broad.mit.edu	37	chr10	75849002	75849002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagctcagcaggtatcTcagggtctggatgtgctcac	10	9	12	10	0	4	1	3	0	2	1	5	2	4	2	0	3	3	4	0	3	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:75849002T>C	ENST00000211998.4	+	9	1165	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.S357S	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	357	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCAGGTATCTCAGGGTCTGG	0.488																																						uc001jwd.3																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1069-1071)tcT>tcC		Homo sapiens vinculin (VCL), transcript variant 1, mRNA.							91	75	81					10																	75849002		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75849002T>C	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1071T>C	10.37:g.75849002T>C						VCL_uc009xrr.3_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.3_Silent_p.S357S|VCL_uc010qkz.2_Intron	p.S357S	NM_014000	NP_054706	P18206	VINC_HUMAN			8	1165	+	Prostate(51;0.0112)		357			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.1071T>C	CCDS7341.1																																																																																				0.488	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		C	75849002	T	C	75849002	2	2	222	1	0	0	0	0	0	0	0	1	17136	1538	54	4		4	VCL	10	75849002	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	11689518	75849002	59685745	59	15495											
PTEN	5728	broad.mit.edu	37	chr10	89653808	89653808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccaaacattattgctatgGgatttcctgcagaaagactt	13	13	7	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	2	2	1	4	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:89653808G>A	ENST00000371953.3	+	2	1463	c.106G>A	c.(106-108)Gga>Aga	p.G36R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in glioma). {ECO:0000269|PubMed:9090379}.|G -> R (in endometrial hyperplasia). {ECO:0000269|PubMed:9635567}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.G36R(4)|p.Y27fs*1(2)|p.G36*(1)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(4)|Deletion - Frameshift(2)|Deletion - In frame(1)|Substitution - Nonsense(1)	p.0?(37)|p.?(8)|p.G36R(8)|p.G36E(4)|p.G36*(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.M35R(1)|p.G36fs*18(1)	prostate(14)|central_nervous_system(12)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM004280	PTEN	M		c.(106-108)Gga>Aga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							108	109	108					10																	89653808		2203	4296	6499	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653808G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.106G>A	10.37:g.89653808G>A	ENSP00000361021:p.Gly36Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G36R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1138	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	36		G -> E (in glioma).|G -> R (in endometrial hyperplasia).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.106G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172467	0.94807	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98485	1.0607	9	.	.	.	-0.2255	17.4682	0.87639	0.0:0.0:1.0:0.0	.	36	P60484	PTEN_HUMAN	R	36	ENSP00000361021:G36R	.	G	+	1	0	PTEN	89643788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	GGA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89653808	G	A	89653808	3	1	222	1	0	0	0	0	1	0	0	0	12738	1233	43	3	112	3	PTEN	10	89653808	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	13804806	89653808	45880939	60	15496											
TNKS2	80351	broad.mit.edu	37	chr10	93619322	93619322	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgctgaaaactcttcCaaaagcaatcaatatgtata	16	14	4	7	0	2	1	1	1	1	0	3	1	3	1	1	0	3	3	1	0	10	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:93619322C>A	ENST00000371627.4	+	25	3577	c.3198C>A	c.(3196-3198)tcC>tcA	p.S1066S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1066	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAACTCTTCCAAAAGCAATC	0.398																																						uc001khp.3																			0		p.S1066F(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(3196-3198)tcC>tcA		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.							119	116	117					10																	93619322		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93619322C>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3198C>A	10.37:g.93619322C>A							p.S1066S	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			24	3495	+		Colorectal(252;0.162)	1066			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.3198C>A	CCDS7417.1																																																																																				0.398	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		A	93619322	C	A	93619322	2	1	222	1	0	0	0	0	0	0	0	1	16318	581	21	5		5	TNKS2	10	93619322	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	3965514	93619322	41915425	61	15497											
HPSE2	60495	broad.mit.edu	37	chr10	100374687	100374687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaattctggtccaCgaggtgattgtatccatggt	9	14	12	6	1	1	1	0	1	1	0	3	2	3	1	2	4	0	2	2	4	3	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:100374687C>T	ENST00000370552.3	-	9	1353	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	HPSE2_ENST00000370546.1_Missense_Mutation_p.V432M|HPSE2_ENST00000404542.1_Missense_Mutation_p.V320M|HPSE2_ENST00000370549.1_Missense_Mutation_p.V374M	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	432					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCTGGTCCACGAGGTGATTG	0.418																																						uc001kpn.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1294-1296)Gtg>Atg		Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.							189	162	171					10																	100374687		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100374687C>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1294G>A	10.37:g.100374687C>T	ENSP00000359583:p.Val432Met					HPSE2_uc009xwc.2_Missense_Mutation_p.V432M|HPSE2_uc001kpo.2_Missense_Mutation_p.V374M|HPSE2_uc009xwd.2_Missense_Mutation_p.V320M	p.V432M	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	8	1367	-			432					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1294G>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621408	0.87460	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.46	5.46	0.80206	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.068075	0.56097	D	0.000021	T	0.51534	0.1680	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;0.994	D;P;P;P	0.83275	0.996;0.759;0.847;0.579	T	0.40327	-0.9569	10	0.44086	T	0.13	-8.3071	18.4497	0.90699	0.0:1.0:0.0:0.0	.	320;432;374;432	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	M	432;374;432;320	ENSP00000359583:V432M;ENSP00000359580:V374M;ENSP00000359577:V432M;ENSP00000384384:V320M	ENSP00000359577:V432M	V	-	1	0	HPSE2	100364677	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	6.883000	0.75595	2.713000	0.92767	0.655000	0.94253	GTG		0.418	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		T	100374687	C	T	100374687	3	4	222	1	0	0	0	0	1	0	0	0	7345	536	19	1	538	1	HPSE2	10	100374687	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	6755365	100374687	35160060	62	15498											
DNMBP	23268	broad.mit.edu	37	chr10	101716779	101716779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagccccattagggccCgggcttgtcccatggaatat	10	8	11	12	1	0	1	0	0	0	1	1	2	1	2	4	3	1	1	4	3	4	3	rs138795130		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:101716779C>T	ENST00000324109.4	-	4	543	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DNMBP_ENST00000342239.3_Missense_Mutation_p.R151Q|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	151	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CATTAGGGCCCGGGCTTGTCC	0.557																																						uc001kqj.2																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(451-453)cGg>cAg		Homo sapiens dynamin binding protein (DNMBP), mRNA.			GLN/ARG	0,4406		0,0,2203	42	45	44		452	5.5	1	10	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNMBP	NM_015221.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	151/1578	101716779	1,13005	2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716779C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.452G>A	10.37:g.101716779C>T	ENSP00000315659:p.Arg151Gln					DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	p.R151Q	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	3	544	-		Colorectal(252;0.234)	151			SH3 3.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.452G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065104	0.93898	0.0	1.16E-4	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.32753	1.44;1.44	5.47	5.47	0.80525	Src homology-3 domain (3);	0.000000	0.47093	D	0.000258	T	0.39937	0.1097	L	0.39514	1.22	0.80722	D	1	D	0.62365	0.991	D	0.66084	0.941	T	0.06770	-1.0808	10	0.05959	T	0.93	-23.9426	14.8761	0.70496	0.0:0.9293:0.0:0.0707	.	151	Q6XZF7	DNMBP_HUMAN	Q	151	ENSP00000344914:R151Q;ENSP00000315659:R151Q	ENSP00000315659:R151Q	R	-	2	0	DNMBP	101706769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.952000	0.70282	2.724000	0.93272	0.561000	0.74099	CGG		0.557	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101716779	C	T	101716779	3	4	222	1	0	0	0	0	1	0	0	0	4674	652	23	2	4337	2	DNMBP	10	101716779	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1342092	101716779	33817968	63	15499											
OR51F2	119694	broad.mit.edu	37	chr11	4842972	4842972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagatgttctttctacaCggatttactttcatggagtc	8	15	8	10	1	3	1	1	0	2	1	4	3	3	3	1	2	2	1	1	2	2	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468																																						uc010qyn.2																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(355-357)caC>caT		Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.							189	167	174					11																	4842972		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842972C>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.357C>T	11.37:g.4842972C>T							p.H119H	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	357	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	119					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.357C>T	CCDS31361.1																																																																																				0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		T	4842972	C	T	4842972	2	4	222	1	0	0	0	0	0	0	0	1	11097	535	19	1		1	OR51F2	11	4842972	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		4842972	130163544	64	15500											
UEVLD	55293	broad.mit.edu	37	chr11	18587922	18587922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttgcaatataggctagCaagtctacctgccgtgcctc	9	13	8	11	1	1	0	0	0	1	0	2	0	1	0	3	1	5	3	3	1	6	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:18587922C>G	ENST00000396197.3	-	5	493	c.465G>C	c.(463-465)ttG>ttC	p.L155F	UEVLD_ENST00000543987.1_Missense_Mutation_p.L155F|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.L117F|UEVLD_ENST00000379387.4_Missense_Mutation_p.L133F|UEVLD_ENST00000300038.7_Missense_Mutation_p.L155F|UEVLD_ENST00000320750.6_Missense_Mutation_p.L133F	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATAGGCTAGCAAGTCTACCT	0.368																																						uc001mot.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(463-465)ttG>ttC		Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.							81	82	82					11																	18587922		2199	4293	6492	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18587922C>G	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.465G>C	11.37:g.18587922C>G	ENSP00000379500:p.Leu155Phe					UEVLD_uc001mou.3_Missense_Mutation_p.L155F|UEVLD_uc010rde.2_Missense_Mutation_p.L25F|UEVLD_uc010rdf.2_Missense_Mutation_p.L133F|UEVLD_uc010rdg.2_Missense_Mutation_p.L25F|UEVLD_uc001mov.3_Missense_Mutation_p.L133F|UEVLD_uc010rdh.2_Missense_Mutation_p.L155F	p.L155F	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			4	545	-			155						Missense_Mutation	SNP	ENST00000396197.3	37	c.465G>C	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760577	0.69763	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000300038	D;D;T;D;T	0.85171	-1.95;-1.93;-1.04;-1.89;-0.97	5.98	5.98	0.97165	.	0.069691	0.56097	D	0.000026	D	0.90075	0.6900	M	0.63843	1.955	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;0.992;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.996;0.9;0.993;0.991	D	0.86456	0.1776	10	0.19147	T	0.46	-4.6903	14.4564	0.67418	0.1556:0.8444:0.0:0.0	.	155;133;133;155;155	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	F	155;117;155;133;133;155	ENSP00000442974:L155F;ENSP00000441092:L117F;ENSP00000379500:L155F;ENSP00000323353:L133F;ENSP00000368697:L133F	ENSP00000300038:L155F	L	-	3	2	UEVLD	18544498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.764000	0.38471	2.835000	0.97688	0.650000	0.86243	TTG		0.368	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		G	18587922	C	G	18587922	3	3	222	1	0	0	0	0	1	0	0	0	16930	709	25	5	982	5	UEVLD	11	18587922	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	13744950	18587922	116418594	65	15501											
OR10AG1	282770	broad.mit.edu	37	chr11	55735344	55735344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaacagaaatggcaccGtgataaacaccaccgctact	16	6	6	13	2	1	2	1	1	0	1	1	2	1	2	3	1	3	2	3	1	6	2	rs200642883	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735344G>A	ENST00000312345.2	-	1	646	c.596C>T	c.(595-597)aCg>aTg	p.T199M		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGGCACCGTGATAAACAC	0.408													G|||	2	0.000399361	0	0.0029	5008	,	,		20787	0		0	False		,,,				2504	0					uc010rit.2																			0		p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(595-597)aCg>aTg		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							82	81	82					11																	55735344		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735344G>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.596C>T	11.37:g.55735344G>A	ENSP00000311477:p.Thr199Met						p.T199M	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	596	-	Esophageal squamous(21;0.0137)		199					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.596C>T	CCDS31514.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.006	-2.026808	0.00410	.	.	ENSG00000174970	ENST00000312345	T	0.37058	1.22	5.37	0.337	0.15966	GPCR, rhodopsin-like superfamily (1);	0.939183	0.08882	N	0.879979	T	0.14313	0.0346	N	0.03294	-0.36	0.09310	N	1	B	0.25272	0.122	B	0.15484	0.013	T	0.29150	-1.0021	10	0.11794	T	0.64	.	8.8808	0.35374	0.5823:0.0:0.4177:0.0	.	199	Q8NH19	O10AG_HUMAN	M	199	ENSP00000311477:T199M	ENSP00000311477:T199M	T	-	2	0	OR10AG1	55491920	0.000000	0.05858	0.001000	0.08648	0.512000	0.34134	-0.051000	0.11885	-0.161000	0.10983	-0.499000	0.04595	ACG		0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		A	55735344	G	A	55735344	3	1	222	1	0	0	0	0	1	0	0	0	10897	1145	40	1	312	1	OR10AG1	11	55735344	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	37147422	55735344	79271172	66	15502											
OR10AG1	282770	broad.mit.edu	37	chr11	55735807	55735807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacatgggagtctggagagCggggtgaatttttattagta	11	13	14	3	1	1	2	0	1	1	1	1	4	1	3	0	4	2	1	0	4	5	6	rs139897319	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735807C>T	ENST00000312345.2	-	1	183	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCTGGAGAGCGGGGTGAATT	0.348													C|||	8	0.00159744	0.0061	0	5008	,	,		16496	0		0	False		,,,				2504	0					uc010rit.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(133-135)Gct>Act		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.		C	THR/ALA	28,4368	32.6+/-62.9	0,28,2170	50	57	55		133	-7.2	0	11	dbSNP_134	55	0,8586		0,0,4293	yes	missense	OR10AG1	NM_001005491.1	58	0,28,6463	TT,TC,CC		0.0,0.6369,0.2157	benign	45/302	55735807	28,12954	2198	4293	6491	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735807C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.133G>A	11.37:g.55735807C>T	ENSP00000311477:p.Ala45Thr						p.A45T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	133	-	Esophageal squamous(21;0.0137)		45					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.133G>A	CCDS31514.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	4.675	0.125533	0.08931	0.006369	0.0	ENSG00000174970	ENST00000312345	T	0.00438	7.42	5.27	-7.17	0.01511	GPCR, rhodopsin-like superfamily (1);	2.269630	0.01687	N	0.026449	T	0.00109	0.0003	N	0.11892	0.195	0.09310	N	1	B	0.27559	0.181	B	0.15870	0.014	T	0.46034	-0.9220	10	0.12430	T	0.62	.	3.7373	0.08515	0.0988:0.2023:0.1696:0.5292	.	45	Q8NH19	O10AG_HUMAN	T	45	ENSP00000311477:A45T	ENSP00000311477:A45T	A	-	1	0	OR10AG1	55492383	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-7.645000	0.00032	-0.990000	0.03481	0.398000	0.26397	GCT		0.348	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735807	C	T	55735807	3	4	222	1	0	0	0	0	1	0	0	0	10897	768	27	1	775	1	OR10AG1	11	55735807	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	463	55735807	79270709	67	15503											
SLC22A10	387775	broad.mit.edu	37	chr11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaatgcagaccctgcGtgtggctttggcatgtctgg	7	10	14	10	1	1	2	0	0	1	2	1	2	1	2	2	3	2	3	2	3	1	1	rs112720090	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:63071595G>A	ENST00000332793.6	+	8	1303	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_ENST00000544661.1_Missense_Mutation_p.V233M|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	434						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CAGACCCTGCGTGTGGCTTTG	0.453													G|||	6	0.00119808	0.0045	0	5008	,	,		17216	0		0	False		,,,				2504	0					uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1300-1302)cGt>cAt		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.		G	HIS/ARG	24,4194		1,22,2086	177	183	181		1301	1	0.1	11	dbSNP_132	181	2,8534		0,2,4266	yes	missense	SLC22A10	NM_001039752.3	29	1,24,6352	AA,AG,GG		0.0234,0.569,0.2039	probably-damaging	434/542	63071595	26,12728	2109	4268	6377	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63071595G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1301G>A	11.37:g.63071595G>A	ENSP00000327569:p.Arg434His					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	p.R434H	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			7	1509	+			434					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1301G>A	CCDS41661.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.26|10.26	1.301140|1.301140	0.23650|0.23650	0.00569|0.00569	2.34E-4|2.34E-4	ENSG00000184999|ENSG00000184999	ENST00000332793|ENST00000544661	T|T	0.74209|0.70399	-0.82|-0.48	3.05|3.05	0.999|0.999	0.19862|0.19862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.62097|0.62097	0.2400|0.2400	H|H	0.94542|0.94542	3.55|3.55	0.30645|0.30645	N|N	0.75608|0.75608	B|P	0.33345|0.44776	0.409|0.843	B|B	0.34931|0.31614	0.192|0.133	T|T	0.68002|0.68002	-0.5524|-0.5524	10|9	0.54805|0.56958	T|D	0.06|0.05	.|.	3.972|3.972	0.09457|0.09457	0.1358:0.0:0.6338:0.2305|0.1358:0.0:0.6338:0.2305	.|.	434|228	Q63ZE4|E9PJB1	S22AA_HUMAN|.	H|M	434|233	ENSP00000327569:R434H|ENSP00000445667:V233M	ENSP00000327569:R434H|ENSP00000433817:V228M	R|V	+|+	2|1	0|0	SLC22A10|SLC22A10	62828171|62828171	0.952000|0.952000	0.32445|0.32445	0.109000|0.109000	0.21407|0.21407	0.224000|0.224000	0.24922|0.24922	2.097000|2.097000	0.41748|0.41748	0.145000|0.145000	0.18977|0.18977	0.579000|0.579000	0.79373|0.79373	CGT|GTG		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		A	63071595	G	A	63071595	3	1	222	1	0	0	0	0	1	0	0	0	14441	1145	40	1	1331	1	SLC22A10	11	63071595	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7335788	63071595	71934921	68	15504											
NAALADL1	10004	broad.mit.edu	37	chr11	64820765	64820765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggggtccacagcccCgtgcacccagctgtctcggt	5	8	12	16	2	1	0	0	0	1	0	3	0	2	0	4	3	4	3	4	3	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:64820765C>T	ENST00000358658.3	-	8	1150	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	NAALADL1_ENST00000339885.2_Missense_Mutation_p.G375R|NAALADL1_ENST00000340252.4_Missense_Mutation_p.G426R|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G334R|NAALADL1_ENST00000356632.3_Missense_Mutation_p.G340R|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G375R	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	375	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCACAGCCCCGTGCACCCAG	0.672																																						uc001ocn.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1123-1125)Ggg>Agg		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.							20	17	18					11																	64820765		2176	4274	6450	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64820765C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1123G>A	11.37:g.64820765C>T	ENSP00000351484:p.Gly375Arg					NAALADL1_uc010rnw.2_5'UTR	p.G375R	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			7	1139	-			375			NAALADase.		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1123G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576387	0.86645	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	4.27	4.27	0.50696	Peptidase M28 (1);	0.057770	0.64402	D	0.000001	D	0.97235	0.9096	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98310	1.0523	10	0.87932	D	0	-10.7899	14.2012	0.65705	0.0:1.0:0.0:0.0	.	375	Q9UQQ1	NALDL_HUMAN	R	375;375;375;375;426;334;340	ENSP00000351484:G375R;ENSP00000347530:G375R;ENSP00000340111:G375R;ENSP00000344244:G426R;ENSP00000347955:G334R;ENSP00000349045:G340R	ENSP00000340111:G375R	G	-	1	0	NAALADL1	64577341	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	6.271000	0.72569	2.198000	0.70561	0.655000	0.94253	GGG		0.672	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		T	64820765	C	T	64820765	3	4	222	1	0	0	0	0	1	0	0	0	10129	652	23	2	1143	2	NAALADL1	11	64820765	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1749170	64820765	70185751	69	15505											
PCNXL3	399909	broad.mit.edu	37	chr11	65402835	65402835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacgccctccctgctggcGctgcgccatgtcctggatga	6	8	11	16	3	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	1	0	rs375263170		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:65402835G>A	ENST00000355703.3	+	31	5639	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1700						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		17409	0		0	False		,,,				2504	0					uc001oey.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5098-5100)gcG>gcA		Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.		G		10,4146		0,10,2068	21	22	22		5100	-8.1	0.7	11		22	0,8386		0,0,4193	no	coding-synonymous	PCNXL3	NM_032223.2		0,10,6261	AA,AG,GG		0.0,0.2406,0.0797		1700/2035	65402835	10,12532	2078	4193	6271	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65402835G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5100G>A	11.37:g.65402835G>A						PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	p.A1700A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			30	5100	+			1700					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.5100G>A	CCDS44650.1																																																																																				0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		A	65402835	G	A	65402835	2	1	222	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCNXL3	11	65402835	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	582070	65402835	69603681	70	15506											
GDF3	9573	broad.mit.edu	37	chr12	7842931	7842931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcaggctgaaaattcaccCctgagtctctatcttctttg	8	15	6	12	0	5	2	2	2	3	0	6	2	5	2	2	1	0	1	2	1	3	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:7842931C>T	ENST00000329913.3	-	2	685	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	213			G -> R (in dbSNP:rs12819884). {ECO:0000269|PubMed:15489334}.		endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAATTCACCCCTGAGTCTCT	0.493																																						uc001qte.3																			0		p.G213R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(637-639)gGg>gAg		Homo sapiens growth differentiation factor 3 (GDF3), mRNA.							82	82	82					12																	7842931		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842931C>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.638G>A	12.37:g.7842931C>T	ENSP00000331745:p.Gly213Glu						p.G213E	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			1	674	-			213		G -> R (in dbSNP:rs12819884).			Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.638G>A	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637613	0.29157	.	.	ENSG00000184344	ENST00000329913	T	0.63744	-0.06	4.61	-6.16	0.02098	Transforming growth factor-beta, N-terminal (1);	1.057280	0.07259	N	0.867224	T	0.42223	0.1193	L	0.54323	1.7	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.45731	-0.9241	10	0.02654	T	1	.	1.9933	0.03451	0.1162:0.256:0.3455:0.2823	.	213	Q9NR23	GDF3_HUMAN	E	213	ENSP00000331745:G213E	ENSP00000331745:G213E	G	-	2	0	GDF3	7734198	0.001000	0.12720	0.000000	0.03702	0.437000	0.31866	0.418000	0.21230	-0.906000	0.03866	-0.258000	0.10820	GGG		0.493	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			T	7842931	C	T	7842931	3	4	222	1	0	0	0	0	1	0	0	0	6315	623	22	3	460	3	GDF3	12	7842931	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		7842931	126008964	71	15507											
NELL2	4753	broad.mit.edu	37	chr12	45173691	45173691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggctaaggagagcttgtgCcacttgtcatcagccaaaat	12	10	10	9	0	2	1	2	0	0	1	2	2	2	1	2	2	3	2	2	2	3	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:45173691C>T	ENST00000429094.2	-	4	954	c.450G>A	c.(448-450)tgG>tgA	p.W150*	NELL2_ENST00000452445.2_Nonsense_Mutation_p.W150*|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000549027.1_Nonsense_Mutation_p.W149*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.W200*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.W173*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.W149*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.W149*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	150	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGAGCTTGTGCCACTTGTCAT	0.438																																						uc010skz.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(598-600)tgG>tgA		Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.							166	147	153					12																	45173691		2203	4300	6503	SO:0001587	stop_gained	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173691C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.450G>A	12.37:g.45173691C>T	ENSP00000390680:p.Trp150*					NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001rog.2_Nonsense_Mutation_p.W150*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	p.W200*	NM_001145107	NP_006150	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	725	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	150			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000429094.2	37	c.600G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265725	0.95399	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0223	19.4004	0.94627	0.0:1.0:0.0:0.0	.	.	.	.	X	149;150;149;150;149;173;200;149;150;147	.	ENSP00000327988:W173X	W	-	3	0	NELL2	43459958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.771000	0.85420	2.577000	0.86979	0.655000	0.94253	TGG		0.438	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		T	45173691	C	T	45173691	4	4	222	1	0	0	0	0	0	1	0	0	10334	740	26	3	2068	3	NELL2	12	45173691	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	37330760	45173691	88678204	72	15508											
ARID2	196528	broad.mit.edu	37	chr12	46245949	46245949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaatagacatgcaagAtatcaaaagtgatttgagaa	21	8	8	4	0	1	5	1	2	0	4	1	6	1	5	0	0	2	1	0	0	8	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:46245949A>T	ENST00000334344.6	+	15	4215	c.4043A>T	c.(4042-4044)gAt>gTt	p.D1348V	ARID2_ENST00000444670.1_Missense_Mutation_p.D958V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D1199V|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1348					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACATGCAAGATATCAAAAGT	0.358			"N, S, F"		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4042-4044)gAt>gTt		Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.							67	65	66					12																	46245949		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245949A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4043A>T	12.37:g.46245949A>T	ENSP00000335044:p.Asp1348Val					ARID2_uc001ror.3_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	p.D1348V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	4043	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1348					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4043A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813391	0.32053	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.34667	1.35	6.07	6.07	0.98685	.	0.180691	0.64402	D	0.000017	T	0.33876	0.0878	N	0.14661	0.345	0.80722	D	1	P;P;P	0.49783	0.741;0.928;0.624	P;P;B	0.49226	0.448;0.603;0.261	T	0.25152	-1.0140	10	0.87932	D	0	-8.8496	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1348;958;1348	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	V	1348;465;465;1199;958	ENSP00000335044:D1348V	ENSP00000335044:D1348V	D	+	2	0	ARID2	44532216	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.233000	0.51311	2.326000	0.78906	0.533000	0.62120	GAT		0.358	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46245949	A	T	46245949	3	4	222	1	0	0	0	0	1	0	0	0	915	333	12	5	4101	5	ARID2	12	46245949	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	1072258	46245949	87605946	73	15509											
KRT78	196374	broad.mit.edu	37	chr12	53242331	53242331	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagttgaccctcacCttgtcaatgaaggaagcaaa	12	10	10	9	0	2	3	2	3	0	0	2	4	2	4	2	2	1	3	2	2	4	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:53242331C>T	ENST00000304620.4	-	1	447	c.384G>A	c.(382-384)aaG>aaA	p.K128K	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	128	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACCCTCACCTTGTCAATGA	0.537																																						uc001sbc.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.e1+1		Homo sapiens keratin 78 (KRT78), mRNA.							85	78	81					12																	53242331		2203	4300	6503	SO:0001630	splice_region_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242331C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.384+1G>A	12.37:g.53242331C>T							p.K128_splice	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			1	448	-			128			Coil 1A.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.384_splice	CCDS8840.1																																																																																				0.537	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352	Silent	T	53242331	C	T	53242331	5	4	222	1	0	0	0	0	0	0	1	0	8491	695	24	3	1214	3	KRT78	12	53242331	Splice_Site	SNP	C	TCGA-32-1977-01A-01D-1353-08	6996382	53242331	80609564	74	15510											
SLC24A6	80024	broad.mit.edu	37	chr12	113770568	113770568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacctgaagctggaaacTgggggctaatgtgagctcct	10	9	12	10	0	1	2	1	2	0	0	2	3	2	3	2	3	3	3	2	3	3	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:113770568T>A	ENST00000552014.1	-	3	631	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	SLC8B1_ENST00000546737.1_Missense_Mutation_p.Q39L|SLC8B1_ENST00000202831.3_Missense_Mutation_p.Q39L|SLC8B1_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	39					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AGCTGGAAACTGGGGGCTAAT	0.557																																						uc001tvc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(115-117)cAg>cTg		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.							58	53	55					12																	113770568		2203	4300	6503	SO:0001583	missense	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113770568T>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.116A>T	12.37:g.113770568T>A	ENSP00000447091:p.Gln39Leu					SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	p.Q39L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			1	326	-			39					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.116A>T	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	t	8.234	0.805209	0.16467	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186;ENST00000549372	T;T;T;T	0.59224	0.28;0.28;0.28;1.96	3.58	-6.25	0.02039	.	1.042900	0.07693	U	0.938998	T	0.39784	0.1091	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26430	-1.0103	10	0.24483	T	0.36	.	1.6066	0.02685	0.1624:0.1995:0.4033:0.2347	.	39	Q6J4K2	NCKX6_HUMAN	L	39	ENSP00000447091:Q39L;ENSP00000202831:Q39L;ENSP00000450081:Q39L;ENSP00000448703:Q39L	ENSP00000202831:Q39L	Q	-	2	0	SLC24A6	112254951	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	-0.571000	0.05889	-1.263000	0.02455	-1.374000	0.01184	CAG		0.557	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		A	113770568	T	A	113770568	3	1	222	1	0	0	0	0	1	0	0	0	14470	1580	55	5	1698	5	SLC24A6	12	113770568	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	60528237	113770568	20081327	75	15511											
TBX5	6910	broad.mit.edu	37	chr12	114832695	114832695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtgcatggaatttagaaTaatctaaaaataataaagaa	20	13	6	2	0	1	2	0	0	1	2	1	3	1	3	0	1	1	1	0	1	11	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:114832695T>A	ENST00000310346.4	-	6	1180	c.514A>T	c.(514-516)Att>Ttt	p.I172F	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.I172F|TBX5_ENST00000405440.2_Missense_Mutation_p.I172F|TBX5_ENST00000349716.5_Missense_Mutation_p.I122F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	172					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTAGAATAATCTAAAAA	0.368																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(514-516)Att>Ttt		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							105	116	112					12																	114832695		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832695T>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.514A>T	12.37:g.114832695T>A	ENSP00000309913:p.Ile172Phe					TBX5_uc001tvp.3_Missense_Mutation_p.I172F|TBX5_uc001tvq.3_Missense_Mutation_p.I122F|TBX5_uc010syv.2_Missense_Mutation_p.I172F	p.I172F	NM_181486	NP_542448	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	1009	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		172					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.514A>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.939610	0.92526	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.75	5.75	0.90469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.974;0.987	D	0.93430	0.6784	10	0.87932	D	0	.	16.3473	0.83146	0.0:0.0:0.0:1.0	.	172;172	Q99593-2;Q99593	.;TBX5_HUMAN	F	122;172;69;172;172	ENSP00000337723:I122F;ENSP00000309913:I172F;ENSP00000384152:I172F;ENSP00000433292:I172F	ENSP00000309913:I172F	I	-	1	0	TBX5	113317078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.320000	0.78422	0.528000	0.53228	ATT		0.368	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114832695	T	A	114832695	3	1	222	1	0	0	0	0	1	0	0	0	15658	1406	49	5	1125	5	TBX5	12	114832695	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	1062127	114832695	19019200	76	15512											
TAOK3	51347	broad.mit.edu	37	chr12	118639103	118639103	+	Frame_Shift_Del	DEL	C	C	-																															aaaataaattgaacctacttCctcatcctcctgtgactcat																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:118639103delC	ENST00000392533.3	-	12	1475	c.985delG	c.(985-987)gaafs	p.E329fs	TAOK3_ENST00000419821.2_Frame_Shift_Del_p.E329fs	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	329					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCTACTTCCTCATCCTCC	0.368																																						uc001twx.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(985-987)gaafs		Homo sapiens TAO kinase 3 (TAOK3), mRNA.							136	125	128					12																	118639103		2203	4300	6503	SO:0001589	frameshift_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118639103delC	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.985delG	12.37:g.118639103delC	ENSP00000376317:p.Glu329fs					TAOK3_uc001tww.3_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.4_Frame_Shift_Del_p.E329fs	p.E329fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			11	1280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		329					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Frame_Shift_Del	DEL	ENST00000392533.3	37	c.985delG	CCDS9188.1																																																																																				0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		-	118639103	C	-	118639103	7	5	222	1	0	1	0	1	0	0	0	0	15546	864	30	0	1751	0	TAOK3	12	118639103	Frame_Shift_Del	DEL	C	TCGA-32-1977-01A-01D-1353-08	3806408	118639103	15212792	77	15513											
UCHL3	7347	broad.mit.edu	37	chr13	76134909	76134909	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttaaacaattaggtctAcatcctaactggcaattcgt	12	15	5	9	1	2	0	0	0	2	0	4	0	3	0	1	2	3	1	1	2	7	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr13:76134909A>T	ENST00000377595.3	+	3	105	c.75A>T	c.(73-75)ctA>ctT	p.L25L	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	25					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AATTAGGTCTACATCCTAACT	0.333																																						uc001vjq.3																			0				kidney(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(73-75)ctA>ctT		Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.							90	81	84					13																	76134909		2203	4300	6503	SO:0001819	synonymous_variant	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76134909A>T	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.75A>T	13.37:g.76134909A>T							p.L25L	NM_006002	NP_005993	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	2	105	+			25					B2R970|Q5TBK8|Q6IBE9	Silent	SNP	ENST00000377595.3	37	c.75A>T	CCDS9453.1																																																																																				0.333	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		T	76134909	A	T	76134909	2	4	222	1	0	0	0	0	0	0	0	1	16918	378	14	5		5	UCHL3	13	76134909	Silent	SNP	A	TCGA-32-1977-01A-01D-1353-08		76134909	39034969	78	15514											
POTEG	404785	broad.mit.edu	37	chr14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgaggtaccacgtccGtcgagaagatctggacaagc	11	5	14	11	4	1	2	0	0	1	2	3	6	2	4	3	3	3	1	3	3	3	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																						uc001vuz.1																			1	Substitution - Missense(1)	p.R136H(2)|p.V135I(1)	ovary(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(406-408)cGt>cAt		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							93	102	99					14																	19553823		1602	3367	4969	SO:0001583	missense	404785							g.chr14:19553823G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His					POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	p.R136H	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			0	459	+			136					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.407G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553823	G	A	19553823	3	1	222	1	0	0	0	0	1	0	0	0	12266	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		19553823	87795717	79	15515											
OXA1L	5018	broad.mit.edu	37	chr14	23239044	23239044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcctctcatcgtgacgGgccagcgagaggcagccagg	7	9	13	12	3	1	2	1	1	1	1	4	3	2	2	3	3	2	1	3	3	0	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:23239044G>A	ENST00000604262.1	+	4	507	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	OXA1L_ENST00000412791.1_Missense_Mutation_p.G162S|OXA1L_ENST00000358043.5_Missense_Mutation_p.G146S|OXA1L_ENST00000285848.5_Missense_Mutation_p.G222S			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	162					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CATCGTGACGGGCCAGCGAGA	0.488																																						uc001wgn.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(664-666)Ggc>Agc		Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.							661	632	642					14																	23239044		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239044G>A		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.484G>A	14.37:g.23239044G>A	ENSP00000474623:p.Gly162Ser					OXA1L_uc001wgp.2_Missense_Mutation_p.G146S	p.G222S	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	3	664	+	all_cancers(95;8.44e-05)		162					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	G	18.53	3.643811	0.67244	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.26810	1.71;1.74;1.75	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	N	0.17901	0.54	0.80722	D	1	P;B;D	0.89917	0.906;0.246;1.0	P;B;D	0.87578	0.801;0.444;0.998	T	0.04930	-1.0917	10	0.12766	T	0.61	-17.5114	19.2492	0.93917	0.0:0.0:1.0:0.0	.	162;162;222	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	S	222;31;162;146	ENSP00000285848:G222S;ENSP00000387601:G162S;ENSP00000350740:G146S	ENSP00000285848:G222S	G	+	1	0	OXA1L	22308884	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.987000	0.88182	2.840000	0.97914	0.655000	0.94253	GGC		0.488	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		A	23239044	G	A	23239044	3	1	222	1	0	0	0	0	1	0	0	0	11328	1232	43	3	678	3	OXA1L	14	23239044	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	3685221	23239044	84110496	80	15516											
PCK2	5106	broad.mit.edu	37	chr14	24567814	24567814	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccgactggggacaccTgtgcttcaggccctgggaga	8	7	14	12	1	1	2	1	1	0	1	1	5	1	3	3	4	1	1	3	4	0	1	rs371225237		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:24567814T>C	ENST00000216780.4	+	4	859	c.591T>C	c.(589-591)ccT>ccC	p.P197P	PCK2_ENST00000559250.1_Silent_p.P209P|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Silent_p.P63P|PCK2_ENST00000561286.1_Silent_p.P63P|PCK2_ENST00000558096.1_Silent_p.P63P|PCK2_ENST00000396973.4_Silent_p.P197P	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	197					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGGGACACCTGTGCTTCAGG	0.617																																						uc001wlt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(589-591)ccT>ccC		Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		T	,	1,4405	2.1+/-5.4	0,1,2202	77	59	65		591,591	-11	0	14		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCK2	NM_001018073.1,NM_004563.2	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	197/442,197/641	24567814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24567814T>C	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.591T>C	14.37:g.24567814T>C						NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Silent_p.P197P|PCK2_uc010tnw.2_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.2_Silent_p.P63P|PCK2_uc001wlu.4_Silent_p.P63P	p.P197P	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	723	+			197					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.591T>C	CCDS9609.1																																																																																				0.617	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		C	24567814	T	C	24567814	2	2	222	1	0	0	0	0	0	0	0	1	11582	1567	55	4		4	PCK2	14	24567814	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	1328770	24567814	82781726	81	15517											
FOXG1	2290	broad.mit.edu	37	chr14	29237322	29237322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgccgctccaccacCtcgcgggccaagctggcctt	4	6	12	19	5	0	0	0	0	0	0	2	0	1	0	6	3	2	2	6	3	1	1	rs570340475		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:29237322C>T	ENST00000313071.4	+	1	1036	c.837C>T	c.(835-837)acC>acT	p.T279T	RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Silent_p.T279T|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	279					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCTCCACCACCTCGCGGGCCA	0.701													C|||	1	0.000199681	0	0	5008	,	,		11517	0		0.001	False		,,,				2504	0					uc001wqe.3																			0		p.T279N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(835-837)acC>acT		Homo sapiens forkhead box G1 (FOXG1), mRNA.							29	34	32					14																	29237322		2201	4298	6499	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237322C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.837C>T	14.37:g.29237322C>T							p.T279T	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	0	1036	+			279					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.837C>T	CCDS9636.1																																																																																				0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			T	29237322	C	T	29237322	2	4	222	1	0	0	0	0	0	0	0	1	6007	668	24	3		3	FOXG1	14	29237322	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	4669508	29237322	78112218	82	15518											
TDRD9	122402	broad.mit.edu	37	chr14	104488645	104488645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgcaaggcatgaacGtctcaaagctcaggaacaca	15	5	12	9	1	2	1	2	1	1	0	3	3	2	3	0	4	4	3	0	4	5	0	rs201957950		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:104488645G>A	ENST00000409874.4	+	24	2632	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	TDRD9_ENST00000339063.5_Missense_Mutation_p.V862I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	862					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGCATGAACGTCTCAAAGCT	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		19665	0		0	False		,,,				2504	0					uc001yom.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2584-2586)Gtc>Atc		Homo sapiens tudor domain containing 9 (TDRD9), mRNA.							92	76	81					14																	104488645		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104488645G>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2584G>A	14.37:g.104488645G>A	ENSP00000387303:p.Val862Ile					TDRD9_uc001yon.4_Missense_Mutation_p.V600I	p.V862I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			23	2614	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	862					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2584G>A	CCDS9987.2	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	0.013|0.013	-1.633736|-1.633736	0.00806|0.00806	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.03242	.|4.0;4.0	5.6|5.6	3.79|3.79	0.43588|0.43588	.|.	.|0.122808	.|0.36066	.|N	.|0.002813	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.14012	.|0.009;0.002	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.47636|0.47636	-0.9102|-0.9102	5|10	.|0.11794	.|T	.|0.64	.|.	9.4174|9.4174	0.38530|0.38530	0.2162:0.0:0.7838:0.0|0.2162:0.0:0.7838:0.0	.|.	.|862;862	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	H|I	588|862	.|ENSP00000387303:V862I;ENSP00000343545:V862I	.|ENSP00000343545:V862I	R|V	+|+	2|1	0|0	TDRD9|TDRD9	103558398|103558398	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.002000|0.002000	0.02628|0.02628	0.672000|0.672000	0.25187|0.25187	0.739000|0.739000	0.32628|0.32628	-0.143000|-0.143000	0.13931|0.13931	CGT|GTC		0.448	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		A	104488645	G	A	104488645	3	1	222	1	0	0	0	0	1	0	0	0	15733	1145	40	1	2678	1	TDRD9	14	104488645	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	75251323	104488645	2860895	83	15519											
PLD4	122618	broad.mit.edu	37	chr14	105397140	105397140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccaagacctggagaagaCcttccagacctactgggtac	11	6	11	13	0	0	4	0	0	0	4	1	5	1	4	5	3	2	1	5	3	4	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105397140C>T	ENST00000392593.4	+	7	947	c.779C>T	c.(778-780)aCc>aTc	p.T260I	PLD4_ENST00000540372.1_Missense_Mutation_p.T267I|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	260					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CTGGAGAAGACCTTCCAGACC	0.572																																						uc010tyl.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(799-801)aCc>aTc		Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	Choline(DB00122)						95	103	100					14																	105397140		1958	4137	6095	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105397140C>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.779C>T	14.37:g.105397140C>T	ENSP00000376372:p.Thr260Ile					PLD4_uc001ypu.1_Missense_Mutation_p.T260I	p.T267I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		6	958	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	260					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.800C>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101426	0.08731	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.12255	2.7;2.7	4.62	1.75	0.24633	Phospholipase D/viral envelope (1);	0.199432	0.42964	D	0.000632	T	0.03959	0.0111	N	0.03050	-0.425	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.40440	-0.9563	10	0.02654	T	1	-2.7649	7.6541	0.28365	0.0:0.659:0.0:0.341	.	267;260	F5H2B5;Q96BZ4	.;PLD4_HUMAN	I	267;260	ENSP00000438677:T267I;ENSP00000376372:T260I	ENSP00000376372:T260I	T	+	2	0	PLD4	104468185	0.993000	0.37304	0.999000	0.59377	0.999000	0.98932	1.817000	0.39002	0.483000	0.27608	0.655000	0.94253	ACC		0.572	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		T	105397140	C	T	105397140	3	4	222	1	0	0	0	0	1	0	0	0	12048	507	18	3	801	3	PLD4	14	105397140	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	908495	105397140	1952400	84	15520											
GPR132	29933	broad.mit.edu	37	chr14	105518239	105518239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcagagcaggtagaCggccagcacgttgccctgca	9	5	14	13	2	0	2	0	0	0	2	0	2	0	2	3	3	5	6	3	3	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105518239C>T	ENST00000329797.3	-	4	1146	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	GPR132_ENST00000392585.2_Missense_Mutation_p.V70I|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.V79I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	79					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCAGGTAGACGGCCAGCACG	0.657																																						uc001yqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(235-237)Gtc>Atc		Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.							78	74	75					14																	105518239		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518239C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.235G>A	14.37:g.105518239C>T	ENSP00000328818:p.Val79Ile					GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.V70I	p.V79I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	3	1134	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	79					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.235G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068934	0.36470	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.70749	-0.51;-0.51;-0.51	4.83	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.157188	0.43747	D	0.000540	T	0.44307	0.1287	N	0.17248	0.465	0.34023	D	0.652852	P;P	0.48294	0.908;0.908	B;B	0.37144	0.242;0.242	T	0.54938	-0.8218	10	0.08381	T	0.77	.	8.8361	0.35113	0.0:0.7366:0.0:0.2634	.	70;79	B4E144;Q9UNW8	.;GP132_HUMAN	I	79;70;79	ENSP00000328818:V79I;ENSP00000376364:V70I;ENSP00000438094:V79I	ENSP00000328818:V79I	V	-	1	0	GPR132	104589284	0.010000	0.17322	0.995000	0.50966	0.704000	0.40688	0.322000	0.19576	1.016000	0.39470	0.462000	0.41574	GTC		0.657	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		T	105518239	C	T	105518239	3	4	222	1	0	0	0	0	1	0	0	0	6642	536	19	1	911	1	GPR132	14	105518239	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	121099	105518239	1831301	85	15521											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442026	42442026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggtcaaagccaaggCgtaggtctaggtccccggag	11	5	15	10	2	2	1	1	0	1	1	3	3	3	2	3	5	1	1	3	5	4	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:42442026C>T	ENST00000382396.4	-	11	1030	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R315H			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	315	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAAGCCAAGGCGTAGGTCTAG	0.632																																						uc001zoz.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(943-945)cGc>cAc		Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.							77	74	75					15																	42442026		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42442026C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.944G>A	15.37:g.42442026C>T	ENSP00000371833:p.Arg315His					PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R102H	p.R315H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	10	1036	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	315			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.944G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675256	0.88445	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.13657	2.57;2.57	4.72	4.72	0.59763	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.222293	0.31031	N	0.008398	T	0.37100	0.0991	M	0.67625	2.065	0.41747	D	0.989644	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.14448	-1.0472	10	0.59425	D	0.04	-23.2013	17.4585	0.87614	0.0:1.0:0.0:0.0	.	102;315	A2RRC4;Q68DD2	.;PA24F_HUMAN	H	311;315;315;315;315	ENSP00000380442:R315H;ENSP00000371833:R315H	ENSP00000290497:R311H	R	-	2	0	PLA2G4F	40229318	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.584000	0.67490	2.455000	0.83008	0.655000	0.94253	CGC		0.632	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		T	42442026	C	T	42442026	3	4	222	1	0	0	0	0	1	0	0	0	12006	768	27	1	1645	1	PLA2G4F	15	42442026	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		42442026	60089366	86	15522											
TLN2	83660	broad.mit.edu	37	chr15	63055766	63055766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactattccttccagggacAaggcccctggacagagggag	10	6	13	12	0	0	1	0	0	0	1	2	4	2	4	4	4	0	1	4	4	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:63055766A>C	ENST00000561311.1	+	39	5196	c.4966A>C	c.(4966-4968)Aag>Cag	p.K1656Q	TLN2_ENST00000306829.6_Missense_Mutation_p.K1656Q|TLN2_ENST00000472902.1_Missense_Mutation_p.K49Q			Q9Y4G6	TLN2_HUMAN	talin 2	1656					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCCAGGGACAAGGCCCCTGG	0.617																																						uc002alb.4																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4966-4968)Aag>Cag		Homo sapiens talin 2 (TLN2), mRNA.							71	58	63					15																	63055766		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63055766A>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4966A>C	15.37:g.63055766A>C	ENSP00000453508:p.Lys1656Gln					TLN2_uc002alc.4_Missense_Mutation_p.K49Q|TLN2_uc002ald.3_Missense_Mutation_p.K49Q	p.K1656Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			36	4966	+			1656					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4966A>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962533	0.53400	.	.	ENSG00000171914	ENST00000306829	T	0.68903	-0.36	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.75447	2.3	0.48762	D	0.999705	D;P	0.59357	0.985;0.948	P;P	0.57911	0.829;0.68	T	0.77991	-0.2379	10	0.37606	T	0.19	-23.059	15.1304	0.72517	1.0:0.0:0.0:0.0	.	700;1656	G1UI21;Q9Y4G6	.;TLN2_HUMAN	Q	1656	ENSP00000303476:K1656Q	ENSP00000303476:K1656Q	K	+	1	0	TLN2	60843058	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.256000	0.78350	1.977000	0.57605	0.533000	0.62120	AAG		0.617	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			C	63055766	A	C	63055766	3	2	222	1	0	0	0	0	1	0	0	0	15945	131	5	5	5112	5	TLN2	15	63055766	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	20613740	63055766	39475626	87	15523											
C15orf39	56905	broad.mit.edu	37	chr15	75503308	75503308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgccagcccacctGgccccacactgaaggcccgc	8	4	9	20	1	0	1	0	1	0	0	0	1	0	1	7	2	3	0	7	2	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:75503308G>A	ENST00000360639.2	+	3	3315	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	C15orf39_ENST00000394987.4_Missense_Mutation_p.G999S|C15orf39_ENST00000567617.1_3'UTR|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	999						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGCCCACCTGGCCCCACACT	0.662																																						uc002azp.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2995-2997)Ggc>Agc		Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.							43	39	40					15																	75503308		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75503308G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2995G>A	15.37:g.75503308G>A	ENSP00000353854:p.Gly999Ser					C15orf39_uc002azq.4_Missense_Mutation_p.G999S|C15orf39_uc002azr.4_3'UTR	p.G999S	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	3315	+			999					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2995G>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180454	0.38511	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.24151	1.87;1.87	4.24	0.726	0.18248	.	0.261679	0.31347	N	0.007811	T	0.22085	0.0532	L	0.34521	1.04	0.20638	N	0.999875	P	0.41393	0.748	P	0.47206	0.541	T	0.09079	-1.0691	10	0.87932	D	0	-6.8065	5.8279	0.18564	0.4777:0.0:0.5223:0.0	.	999	Q6ZRI6	CO039_HUMAN	S	999;999;397	ENSP00000353854:G999S;ENSP00000378438:G999S	ENSP00000353854:G999S	G	+	1	0	C15orf39	73290361	0.579000	0.26725	0.068000	0.19968	0.360000	0.29518	0.791000	0.26915	0.036000	0.15547	0.462000	0.41574	GGC		0.662	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		A	75503308	G	A	75503308	3	1	222	1	0	0	0	0	1	0	0	0	1793	1348	47	3	3001	3	C15orf39	15	75503308	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12447542	75503308	27028084	88	15524											
C15orf27	123591	broad.mit.edu	37	chr15	76496348	76496348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccttctcccccgccgctgCcatcccagcagcaggtggag	5	6	11	19	2	1	0	0	0	1	0	3	1	2	1	6	2	3	3	6	2	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:76496348C>T	ENST00000388942.3	+	11	1564	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	430					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCGCCGCTGCCATCCCAGCA	0.701																																						uc002bbq.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(1288-1290)Cca>Tca		Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.							15	18	17					15																	76496348		2192	4285	6477	SO:0001583	missense	123591					integral to membrane		g.chr15:76496348C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1288C>T	15.37:g.76496348C>T	ENSP00000373594:p.Pro430Ser					C15orf27_uc010bkp.3_Missense_Mutation_p.P246S|C15orf27_uc002bbr.3_Missense_Mutation_p.P246S|C15orf27_uc002bbs.3_Missense_Mutation_p.P108S	p.P430S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			10	1443	+			430					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1288C>T	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.742135	0.30865	.	.	ENSG00000169758	ENST00000388942	T	0.29142	1.58	4.9	3.98	0.46160	.	0.683004	0.14505	N	0.315479	T	0.20618	0.0496	L	0.29908	0.895	0.39604	D	0.969774	B;B	0.33940	0.433;0.035	B;B	0.27887	0.084;0.023	T	0.06023	-1.0850	10	0.51188	T	0.08	-7.9195	9.124	0.36803	0.0:0.898:0.0:0.102	.	394;430	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	S	430	ENSP00000373594:P430S	ENSP00000373594:P430S	P	+	1	0	C15orf27	74283403	0.000000	0.05858	0.034000	0.17996	0.443000	0.32047	-0.351000	0.07711	1.046000	0.40249	0.455000	0.32223	CCA		0.701	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		T	76496348	C	T	76496348	3	4	222	1	0	0	0	0	1	0	0	0	1788	739	26	3	1326	3	C15orf27	15	76496348	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	993040	76496348	26035044	89	15525											
DECR2	26063	broad.mit.edu	37	chr16	460737	460737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccctggggaaccGggggcaggcgctccaggtgc	6	4	16	15	2	0	0	0	0	0	0	1	1	1	1	4	6	3	2	4	6	1	0	rs370736528		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:460737G>A	ENST00000219481.5	+	6	647	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Missense_Mutation_p.R158Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	170					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701																																						uc002chb.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(508-510)cGg>cAg		Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.		G	GLN/ARG	0,4382		0,0,2191	17	21	20		509	4.7	0.9	16		20	1,8591		0,1,4295	no	missense	DECR2	NM_020664.3	43	0,1,6486	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	170/293	460737	1,12973	2191	4296	6487	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:460737G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.509G>A	16.37:g.460737G>A	ENSP00000219481:p.Arg170Gln					DECR2_uc002chc.3_Missense_Mutation_p.R86Q|DECR2_uc002chd.3_Missense_Mutation_p.R86Q|DECR2_uc002che.1_Non-coding_Transcript	p.R170Q	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			5	615	+		Hepatocellular(16;0.00015)	170					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.509G>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176144	0.38413	0.0	1.16E-4	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.51325	0.71;0.71	5.65	4.69	0.59074	NAD(P)-binding domain (1);	0.196912	0.52532	D	0.000076	T	0.33904	0.0879	L	0.35854	1.095	0.80722	D	1	P	0.37207	0.587	B	0.30401	0.115	T	0.11641	-1.0579	10	0.27785	T	0.31	.	13.0965	0.59195	0.077:0.0:0.923:0.0	.	170	Q9NUI1	DECR2_HUMAN	Q	170;158	ENSP00000219481:R170Q;ENSP00000400374:R158Q	ENSP00000219481:R170Q	R	+	2	0	DECR2	400738	1.000000	0.71417	0.876000	0.34364	0.509000	0.34042	6.355000	0.73041	2.674000	0.91012	0.555000	0.69702	CGG		0.701	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		A	460737	G	A	460737	3	1	222	1	0	0	0	0	1	0	0	0	4383	1116	39	2	531	2	DECR2	16	460737	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		460737	89894016	90	15526											
IGFALS	3483	broad.mit.edu	37	chr16	1841525	1841525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggctggcgatggcgttgtgGgacagccgcagcacacgcag	8	5	17	11	4	0	0	0	0	0	0	0	2	0	1	1	4	2	5	1	4	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:1841525G>A	ENST00000215539.3	-	2	1004	c.894C>T	c.(892-894)tcC>tcT	p.S298S	IGFALS_ENST00000415638.3_Silent_p.S336S			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	298					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGCGTTGTGGGACAGCCGCA	0.687																																						uc010uvn.2																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1006-1008)tcC>tcT		Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.							18	18	18					16																	1841525		2183	4293	6476	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841525G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.894C>T	16.37:g.1841525G>A						IGFALS_uc002cmy.3_Silent_p.S298S|IGFALS_uc010uvo.2_5'UTR	p.S336S	NM_001146006	NP_001139478	P35858	ALS_HUMAN			1	1089	-			298					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.1008C>T	CCDS10446.1																																																																																				0.687	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			A	1841525	G	A	1841525	2	1	222	1	0	0	0	0	0	0	0	1	7577	1219	43	3		3	IGFALS	16	1841525	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	1380788	1841525	88513228	91	15527											
PRSS22	64063	broad.mit.edu	37	chr16	2903295	2903295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccagcagccaggcgccGtccacctggcacatgagggg	7	3	15	16	3	0	1	0	1	0	0	1	1	1	1	6	5	2	2	6	5	0	0	rs377055758		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:2903295G>A	ENST00000161006.3	-	6	818	c.753C>T	c.(751-753)gaC>gaT	p.D251D	PRSS22_ENST00000574768.1_5'Flank|PRSS22_ENST00000571228.1_Silent_p.D141D	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCAGGCGCCGTCCACCTGGC	0.711																																						uc002cry.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(751-753)gaC>gaT		Homo sapiens protease, serine, 22 (PRSS22), mRNA.		G		1,4311		0,1,2155	10	12	11		753	-8.1	0	16		11	2,8452		0,2,4225	no	coding-synonymous	PRSS22	NM_022119.3		0,3,6380	AA,AG,GG		0.0237,0.0232,0.0235		251/318	2903295	3,12763	2156	4227	6383	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903295G>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.753C>T	16.37:g.2903295G>A							p.D251D	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			5	819	-			251			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.753C>T	CCDS10481.1																																																																																				0.711	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		A	2903295	G	A	2903295	2	1	222	1	0	0	0	0	0	0	0	1	12619	1136	40	1		1	PRSS22	16	2903295	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	1061770	2903295	87451458	92	15528											
DNAH3	55567	broad.mit.edu	37	chr16	21045351	21045351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataagcagaggtcttgccGcccatggggtctcctacaat	9	11	10	11	1	2	1	0	0	2	1	3	1	2	1	3	3	3	1	3	3	4	4	rs143127393	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:21045351G>A	ENST00000261383.3	-	36	5141	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G	DNAH3_ENST00000415178.1_Silent_p.G1714G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1714	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGCCGCCCATGGGGT	0.498													G|||	2	0.000399361	0	0.0014	5008	,	,		19099	0.001		0	False		,,,				2504	0					uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5140-5142)ggC>ggT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		G		0,4402		0,0,2201	100	87	92		5142	-9.8	0.3	16	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		1714/4117	21045351	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21045351G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5142C>T	16.37:g.21045351G>A							p.G1714G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	35	5142	-			1714			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.5142C>T	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21045351	G	A	21045351	2	1	222	1	0	0	0	0	0	0	0	1	4603	1074	38	1		1	DNAH3	16	21045351	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	18142056	21045351	69309402	93	15529											
ITGAD	3681	broad.mit.edu	37	chr16	31427865	31427865	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccctggagctcaaCgtgattgtgactgtgtggaa	8	10	15	8	1	1	2	1	2	0	0	2	5	2	5	1	3	3	2	1	3	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:31427865C>T	ENST00000389202.2	+	20	2446	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	799					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGAGCTCAACGTGATTGTGA	0.617																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2398-2400)aaC>aaT		Homo sapiens integrin, alpha D (ITGAD), mRNA.							116	105	109					16																	31427865		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427865C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2397C>T	16.37:g.31427865C>T						ITGAD_uc002ebv.1_Silent_p.N799N	p.N800N	NM_005353	NP_005344	Q13349	ITAD_HUMAN			19	2449	+			799					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2400C>T	CCDS32438.1																																																																																				0.617	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		T	31427865	C	T	31427865	2	4	222	1	0	0	0	0	0	0	0	1	7884	535	19	1		1	ITGAD	16	31427865	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	10382514	31427865	58926888	94	15530											
ZFHX3	463	broad.mit.edu	37	chr16	72993903	72993903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctgtccaagggccCgtggctctcgcctgtggact	4	9	13	15	2	2	0	1	0	1	0	4	1	3	1	4	4	0	2	4	4	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:72993903C>A	ENST00000268489.5	-	2	814	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	48					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCAAGGGCCCGTGGCTCTCG	0.667																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(142-144)Ggg>Tgg		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							85	87	86					16																	72993903		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993903C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.142G>T	16.37:g.72993903C>A	ENSP00000268489:p.Gly48Trp					ZFHX3_uc002fcl.3_Intron	p.G48W	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			1	815	-		Ovarian(137;0.13)	48					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.142G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007316	0.35415	.	.	ENSG00000140836	ENST00000268489	T	0.74106	-0.81	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000100	T	0.75488	0.3856	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79647	-0.1716	10	0.72032	D	0.01	.	13.8511	0.63496	0.0:0.9244:0.0:0.0756	.	48	Q15911	ZFHX3_HUMAN	W	48	ENSP00000268489:G48W	ENSP00000268489:G48W	G	-	1	0	ZFHX3	71551404	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	0.597000	0.24059	2.379000	0.81126	0.462000	0.41574	GGG		0.667	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72993903	C	A	72993903	3	1	222	1	0	0	0	0	1	0	0	0	17631	652	23	5	11005	5	ZFHX3	16	72993903	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	41566038	72993903	17360850	95	15531											
USP22	23326	broad.mit.edu	37	chr17	20924447	20924447	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcattttccaagcttttcGctgctcctccttggcgatta	5	17	7	12	2	0	0	0	0	0	0	4	1	3	0	3	1	3	4	3	1	2	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:20924447G>T	ENST00000261497.4	-	3	600	c.397C>A	c.(397-399)Cga>Aga	p.R133R	USP22_ENST00000537526.2_Silent_p.R121R|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	133					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478																																						uc002gym.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(397-399)Cga>Aga		Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.							91	93	93					17																	20924447		2017	4182	6199	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20924447G>T	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.397C>A	17.37:g.20924447G>T						USP22_uc002gyn.4_Silent_p.R121R|USP22_uc002gyl.4_Silent_p.R28R	p.R133R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			2	601	-			133					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.397C>A	CCDS42285.1																																																																																				0.478	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			T	20924447	G	T	20924447	2	4	222	1	0	0	0	0	0	0	0	1	17051	1095	38	5		5	USP22	17	20924447	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		20924447	60270763	96	15532											
KIF2B	84643	broad.mit.edu	37	chr17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcggcctctcaaccagCgagagacaaccttaaaggac	14	4	11	12	2	1	1	1	0	1	1	2	5	1	3	3	3	4	0	3	3	5	1	rs543871191	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:51901070C>T	ENST00000268919.4	+	1	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	226	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557													C|||	2	0.000399361	0	0	5008	,	,		19824	0		0	False		,,,				2504	0.002					uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(676-678)Cga>Tga		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							99	83	88					17																	51901070		2203	4300	6503	SO:0001587	stop_gained	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901070C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.676C>T	17.37:g.51901070C>T	ENSP00000268919:p.Arg226*					KIF2B_uc010wna.1_Non-coding_Transcript	p.R226*	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	832	+			226			Kinesin-motor.		Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	c.676C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365537	0.95900	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.52	2.12	0.27331	.	0.484231	0.16808	N	0.198692	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.0487	0.30564	0.4756:0.4495:0.0:0.0749	.	.	.	.	X	226;149	.	ENSP00000268919:R226X	R	+	1	2	KIF2B	49256069	0.470000	0.25854	0.399000	0.26333	0.851000	0.48451	0.739000	0.26173	0.215000	0.20761	-0.169000	0.13324	CGA		0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51901070	C	T	51901070	4	4	222	1	0	0	0	0	0	1	0	0	8298	760	27	1	678	1	KIF2B	17	51901070	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	30976623	51901070	29294140	97	15533											
MARCH10	162333	broad.mit.edu	37	chr17	60879073	60879073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcgctgaagaacttctgCctgtcccttgcgtcatgcaa	9	11	8	13	2	2	2	1	1	1	1	4	2	3	2	2	0	4	2	2	0	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:60879073C>A	ENST00000311269.5	-	2	298	c.24G>T	c.(22-24)agG>agT	p.R8S	MARCH10_ENST00000456609.2_Missense_Mutation_p.R8S|MARCH10_ENST00000544856.2_Missense_Mutation_p.R8S|MARCH10_ENST00000583600.1_Missense_Mutation_p.R8S	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	8					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R8R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGAACTTCTGCCTGTCCCTTG	0.453																																						uc010dds.3																			1	Substitution - coding silent(1)	p.R8R(2)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(22-24)agG>agT		Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.							192	149	163					17																	60879073		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60879073C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.24G>T	17.37:g.60879073C>A	ENSP00000311496:p.Arg8Ser					MARCH10_uc010ddr.3_Missense_Mutation_p.R8S|MARCH10_uc002jag.4_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	p.R8S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN			1	309	-			8					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.24G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682160	0.29872	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.21932	1.98;1.98;1.98	5.59	3.62	0.41486	.	0.000000	0.45867	D	0.000336	T	0.41696	0.1170	M	0.71581	2.175	0.36323	D	0.85835	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.50154	-0.8861	10	0.87932	D	0	-15.3064	8.534	0.33351	0.0:0.824:0.0:0.176	.	8;8;8	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	S	8	ENSP00000416177:R8S;ENSP00000311496:R8S;ENSP00000443746:R8S	ENSP00000311496:R8S	R	-	3	2	MARCH10	58232805	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	0.707000	0.25704	0.727000	0.32360	0.561000	0.74099	AGG		0.453	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		A	60879073	C	A	60879073	3	1	222	1	0	0	0	0	1	0	0	0	9299	738	26	5	2442	5	MARCH10	17	60879073	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	8978003	60879073	20316137	98	15534											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856062	62856062	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttagtgttttccataaaaAcattttcttcaaaggcattt	12	18	5	6	0	2	0	1	0	1	0	3	0	3	0	1	1	1	3	1	1	5	8			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:62856062A>C	ENST00000584306.1	-	11	4732	c.4202T>G	c.(4201-4203)gTt>gGt	p.V1401G	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.V1401G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.V439G|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.V378G|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.V519G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1401						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCATAAAAACATTTTCTTC	0.368																																						uc002jey.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4201-4203)gTt>gGt		Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.							46	48	47					17																	62856062		2182	4223	6405	SO:0001583	missense	374819					integral to membrane		g.chr17:62856062A>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4202T>G	17.37:g.62856062A>C	ENSP00000464535:p.Val1401Gly					LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G|DQ578599_uc021ubv.1_5'Flank	p.V1401G	NM_199340	NP_955372	O60309	L37A3_HUMAN			10	4818	-			1401					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4202T>G	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	3.402	-0.122087	0.06795	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59083	1.49;1.49;0.29	2.07	-2.26	0.06867	.	.	.	.	.	T	0.34513	0.0900	N	0.22421	0.69	0.09310	N	1	B;B	0.33583	0.418;0.182	B;B	0.32289	0.143;0.099	T	0.21552	-1.0242	9	0.52906	T	0.07	.	2.1844	0.03882	0.3651:0.0:0.3737:0.2611	.	519;1401	B4DG20;O60309	.;L37A3_HUMAN	G	482;439;378;1401	ENSP00000383674:V439G;ENSP00000335617:V378G;ENSP00000325713:V1401G	ENSP00000325713:V1401G	V	-	2	0	LRRC37A3	60286524	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.843000	0.04350	-0.396000	0.07703	0.155000	0.16302	GTT		0.368	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		C	62856062	A	C	62856062	3	2	222	1	0	0	0	0	1	0	0	0	8993	43	2	5	718	5	LRRC37A3	17	62856062	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	1976989	62856062	18339148	99	15535											
HELZ	9931	broad.mit.edu	37	chr17	65119252	65119252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctctaataggattgccaAtaagtacagaaggattgggc	14	10	11	6	0	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	6	6	rs373787062		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:65119252A>G	ENST00000358691.5	-	26	3630	c.3464T>C	c.(3463-3465)aTt>aCt	p.I1155T	HELZ_ENST00000580168.1_Missense_Mutation_p.I1156T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1155						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGATTGCCAATAAGTACAGA	0.388																																						uc010wqk.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3466-3468)aTt>aCt		Homo sapiens helicase with zinc finger (HELZ), mRNA.		A	THR/ILE	0,3716		0,0,1858	63	63	63		3464	5.6	1	17		63	1,8207		0,1,4103	no	missense	HELZ	NM_014877.3	89	0,1,5961	GG,GA,AA		0.0122,0.0,0.0084	benign	1155/1943	65119252	1,11923	1858	4104	5962	SO:0001583	missense	9931							g.chr17:65119252A>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3464T>C	17.37:g.65119252A>G	ENSP00000351524:p.Ile1155Thr					HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.I1155T	p.I1156T	NM_014877	NP_055692					25	3654	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.3467T>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405790	0.42715	0.0	1.22E-4	ENSG00000198265	ENST00000358691	D	0.83419	-1.72	5.64	5.64	0.86602	.	0.128223	0.64402	D	0.000001	T	0.77363	0.4119	N	0.14661	0.345	0.54753	D	0.999988	P;P	0.52842	0.956;0.956	P;P	0.49999	0.628;0.628	T	0.76753	-0.2843	10	0.26408	T	0.33	-15.3199	16.1564	0.81670	1.0:0.0:0.0:0.0	.	1156;1155	B7ZLW2;P42694	.;HELZ_HUMAN	T	1155	ENSP00000351524:I1155T	ENSP00000351524:I1155T	I	-	2	0	HELZ	62549714	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.678000	0.91211	2.274000	0.75844	0.528000	0.53228	ATT		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		G	65119252	A	G	65119252	3	3	222	1	0	0	0	0	1	0	0	0	7049	101	4	4	2396	4	HELZ	17	65119252	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	2263190	65119252	16075958	100	15536											
KIF19	124602	broad.mit.edu	37	chr17	72345437	72345437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgatgagcagactgggCggggccaggcccggggccgg	7	4	20	10	3	0	4	0	2	0	2	0	4	0	4	3	7	1	1	3	7	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:72345437C>T	ENST00000389916.4	+	10	1300	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	388					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGACTGGGCGGGGCCAGGC	0.662																																						uc002jkm.4																			0		p.R388Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1162-1164)Cgg>Tgg		Homo sapiens kinesin family member 19 (KIF19), mRNA.							36	34	35					17																	72345437		2202	4300	6502	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345437C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1162C>T	17.37:g.72345437C>T	ENSP00000374566:p.Arg388Trp					KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	p.R388W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			9	1300	+			388					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1162C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812893	0.50527	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74947	-0.89;-0.62	5.28	0.807	0.18714	.	.	.	.	.	T	0.65439	0.2691	L	0.58101	1.795	0.28071	N	0.932582	B;B;B;B	0.19583	0.037;0.016;0.036;0.036	B;B;B;B	0.18263	0.009;0.004;0.021;0.008	T	0.59484	-0.7446	9	0.66056	D	0.02	.	3.5048	0.07686	0.1364:0.5749:0.1325:0.1562	.	388;346;346;388	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	W	346;388	ENSP00000449134:R346W;ENSP00000374566:R388W	ENSP00000374566:R388W	R	+	1	2	KIF19	69857032	0.843000	0.29541	0.802000	0.32245	0.931000	0.56810	0.894000	0.28350	0.219000	0.20840	0.449000	0.29647	CGG		0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		T	72345437	C	T	72345437	3	4	222	1	0	0	0	0	1	0	0	0	8282	759	27	1	1200	1	KIF19	17	72345437	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	7226185	72345437	8849773	101	15537											
CBX2	84733	broad.mit.edu	37	chr17	77758656	77758656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagctcggactccgaccccGactccgcctcgccgcccagc	5	4	10	22	6	0	0	0	0	0	0	4	3	2	1	7	1	2	2	7	1	0	0	rs199672117		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:77758656G>A	ENST00000310942.4	+	5	1518	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	472					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCGACCCCGACTCCGCCTC	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		15403	0		0	False		,,,				2504	0					uc002jxc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(1414-1416)Gac>Aac		Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.							40	38	39					17																	77758656		2203	4300	6503	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758656G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1414G>A	17.37:g.77758656G>A	ENSP00000308750:p.Asp472Asn						p.D472N	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1472	+			472					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.1414G>A	CCDS32757.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.10	2.435734	0.43224	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.45	4.45	0.53987	.	0.598230	0.17719	N	0.164308	T	0.66086	0.2754	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.53146	0.719	T	0.66582	-0.5887	9	0.42905	T	0.14	-5.3823	15.5871	0.76491	0.0:0.0:0.8618:0.1382	.	472	Q14781	CBX2_HUMAN	N	472	.	ENSP00000308750:D472N	D	+	1	0	CBX2	75373251	1.000000	0.71417	0.148000	0.22405	0.004000	0.04260	7.722000	0.84778	2.568000	0.86640	0.650000	0.86243	GAC		0.662	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		A	77758656	G	A	77758656	3	1	222	1	0	0	0	0	1	0	0	0	2718	1058	37	2	1780	2	CBX2	17	77758656	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	5413219	77758656	3436554	102	15538											
FOXK2	3607	broad.mit.edu	37	chr17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtctccagtgaaggccGtacagccacacatctcgccc	9	7	9	16	2	2	2	0	2	2	0	4	2	2	2	4	1	2	1	4	1	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:80521333G>A	ENST00000335255.5	+	2	697	c.523G>A	c.(523-525)Gta>Ata	p.V175I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	175					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582																																						uc002kfn.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(523-525)Gta>Ata		Homo sapiens forkhead box K2 (FOXK2), mRNA.							155	100	119					17																	80521333		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80521333G>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.523G>A	17.37:g.80521333G>A	ENSP00000335677:p.Val175Ile					FOXK2_uc002kfm.1_Missense_Mutation_p.V175I|FOXK2_uc010diu.3_Missense_Mutation_p.V175I	p.V175I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	694	+	Breast(20;0.00106)|all_neural(118;0.0952)		175					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.523G>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730801	0.69074	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000526383	D;D	0.95001	-3.24;-3.58	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	L	0.47716	1.5	0.50467	D	0.999871	P;D;D	0.63046	0.744;0.977;0.992	B;P;P	0.51324	0.179;0.465;0.666	D	0.93190	0.6582	10	0.34782	T	0.22	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	175;175;175	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	I	171;175;175;55	ENSP00000335677:V175I;ENSP00000432663:V55I	ENSP00000334321:V175I	V	+	1	0	FOXK2	78114622	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	7.429000	0.80309	2.767000	0.95098	0.655000	0.94253	GTA		0.582	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		A	80521333	G	A	80521333	3	1	222	1	0	0	0	0	1	0	0	0	6015	1145	40	1	529	1	FOXK2	17	80521333	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	2762677	80521333	673877	103	15539											
CCDC102B	79839	broad.mit.edu	37	chr18	66504203	66504204	+	In_Frame_Ins	INS	-	-	TAT																															tataacaccaacaaatgggaINStatttgtgaagaacttcgcc																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr18:66504203_66504204insTAT	ENST00000360242.5	+	2	320_321	c.203_204insTAT	c.(202-207)gatatt>gaTATtatt	p.69_70insI	CCDC102B_ENST00000319445.6_In_Frame_Ins_p.69_70insI|CCDC102B_ENST00000584156.1_In_Frame_Ins_p.69_70insI|CCDC102B_ENST00000358653.5_In_Frame_Ins_p.69_70insI|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	69										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AACAAATGGGATATTTGTGAAG	0.505																																						uc002lkk.2																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(202-204)gat>gaTATt		Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	79839							g.chr18:66504203_66504204insTAT	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.204_206dupTAT	18.37:g.66504204_66504206dupTAT	ENSP00000353377:p.Ile69_Ile69dup					CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI	p.69_70insI	NM_001093729	NP_079057	Q68D86	C102B_HUMAN			3	426_427	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	69					Q7Z467|Q8NDK7|Q9H5C1	In_Frame_Ins	INS	ENST00000360242.5	37	c.203_204insTAT	CCDS11996.2																																																																																				0.505	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		TAT	66504204	-	TAT	66504203	7	5	222	1	0	1	1	0	0	0	0	0	2737	333	12	0	205	0	CCDC102B	18	66504203	In_Frame_Ins	INS	-	TCGA-32-1977-01A-01D-1353-08		66504203	11573045	104	15540											
LRRC8E	80131	broad.mit.edu	37	chr19	7963647	7963647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggggatccctgagcaGattggggccctgcaggaggt	6	7	17	11	1	0	2	0	1	0	1	2	4	1	4	3	6	2	2	3	6	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:7963647G>T	ENST00000306708.6	+	3	341	c.240G>T	c.(238-240)caG>caT	p.Q80H		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	80					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCCTGAGCAGATTGGGGCCC	0.522																																						uc002mir.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(238-240)caG>caT		Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.							92	94	93					19																	7963647		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963647G>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.240G>T	19.37:g.7963647G>T	ENSP00000306524:p.Gln80His						p.Q80H	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			2	341	+			80					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.240G>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	3.043	-0.197111	0.06259	.	.	ENSG00000171017	ENST00000306708	T	0.26957	1.7	5.19	-2.33	0.06724	.	1.016960	0.07854	N	0.965091	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	10	0.62326	D	0.03	.	1.959	0.03382	0.1545:0.3632:0.2346:0.2477	.	80	Q6NSJ5	LRC8E_HUMAN	H	80	ENSP00000306524:Q80H	ENSP00000306524:Q80H	Q	+	3	2	LRRC8E	7869647	0.000000	0.05858	0.891000	0.34965	0.190000	0.23558	-0.428000	0.06991	0.071000	0.16664	-0.140000	0.14226	CAG		0.522	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7963647	G	T	7963647	3	4	222	1	0	0	0	0	1	0	0	0	9025	933	33	5	246	5	LRRC8E	19	7963647	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		7963647	51165336	105	15541											
TNPO2	30000	broad.mit.edu	37	chr19	12817567	12817567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggcactggatcaggtgcGggatcagctcaggcaggtag	10	6	16	9	1	3	0	3	0	0	0	3	2	3	2	0	6	2	4	0	6	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12817567G>T	ENST00000592287.1	-	13	1421	c.1313C>A	c.(1312-1314)cCg>cAg	p.P438Q	TNPO2_ENST00000450764.2_Missense_Mutation_p.P438Q|TNPO2_ENST00000356861.5_Missense_Mutation_p.P438Q|TNPO2_ENST00000425528.1_Missense_Mutation_p.P438Q|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000441499.1_Missense_Mutation_p.P438Q|TNPO2_ENST00000588216.1_Missense_Mutation_p.P438Q	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	438					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATCAGGTGCGGGATCAGCTC	0.632																																						uc002mup.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1588-1590)cCg>cAg		Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.							27	28	27					19																	12817567		2163	4268	6431	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817567G>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1313C>A	19.37:g.12817567G>T	ENSP00000468434:p.Pro438Gln					TNPO2_uc002muq.3_Missense_Mutation_p.P438Q|TNPO2_uc002muo.3_Missense_Mutation_p.P438Q|TNPO2_uc002mur.3_Missense_Mutation_p.P438Q|SNORD41_uc002mut.1_5'Flank	p.P530Q	NM_013433	NP_038461	O14787	TNPO2_HUMAN			11	2051	-			438					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1589C>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556608	0.86231	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.89968	3.075	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.68192	0.956;0.799	T	0.75496	-0.3297	10	0.87932	D	0	-24.4003	17.4031	0.87466	0.0:0.0:1.0:0.0	.	602;438	Q4LE60;O14787	.;TNPO2_HUMAN	Q	602;438;438;438;438;438;438	ENSP00000407182:P438Q;ENSP00000389648:P438Q;ENSP00000397379:P438Q;ENSP00000349321:P438Q	ENSP00000349321:P438Q	P	-	2	0	TNPO2	12678567	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.405000	0.97313	2.409000	0.81822	0.655000	0.94253	CCG		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12817567	G	T	12817567	3	4	222	1	0	0	0	0	1	0	0	0	16333	1116	39	5	1428	5	TNPO2	19	12817567	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	4853920	12817567	46311416	106	15542											
ZNF676	163223	broad.mit.edu	37	chr19	22363820	22363820	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggattgaggatcgattaaaAgctttgccacattcttcaca	13	12	8	8	1	2	1	1	1	1	0	3	4	2	3	1	2	2	1	1	2	2	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:22363820A>T	ENST00000397121.2	-	3	1016	c.699T>A	c.(697-699)gcT>gcA	p.A233A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCGATTAAAAGCTTTGCCAC	0.358																																						uc002nqs.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(697-699)gcT>gcA		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.							74	81	79					19																	22363820		2173	4286	6459	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363820A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.699T>A	19.37:g.22363820A>T							p.A233A	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	1017	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	233					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.699T>A	CCDS42539.1																																																																																				0.358	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363820	A	T	22363820	2	4	222	1	0	0	0	0	0	0	0	1	18080	59	3	5		5	ZNF676	19	22363820	Silent	SNP	A	TCGA-32-1977-01A-01D-1353-08	9546253	22363820	36765163	107	15543											
RYR1	6261	broad.mit.edu	37	chr19	38983254	38983254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaacctgaggaggagcgGtcagcagaggagagcaaacc	15	2	16	8	1	1	4	1	1	0	3	1	8	1	6	2	4	5	2	2	4	2	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:38983254G>A	ENST00000359596.3	+	38	6252	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	RYR1_ENST00000360985.3_Silent_p.R2084R|RYR1_ENST00000355481.4_Silent_p.R2084R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2084	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGAGGAGCGGTCAGCAGAGG	0.627																																						uc002oit.3																			0		p.R2084Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6250-6252)cgG>cgA		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						44	40	41					19																	38983254		2202	4300	6502	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983254G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6252G>A	19.37:g.38983254G>A						RYR1_uc002oiu.3_Silent_p.R2084R	p.R2084R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		37	6382	+	all_cancers(60;7.91e-06)		2084			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.6252G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38983254	G	A	38983254	2	1	222	1	0	0	0	0	0	0	0	1	13768	1248	44	3		3	RYR1	19	38983254	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	16619434	38983254	20145729	108	15544											
TIMM50	92609	broad.mit.edu	37	chr19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-																															cagagggtcccagctatgccAaaaaagttgcgctctggctt																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:39972604delA	ENST00000607714.1	+	2	212	c.190delA	c.(190-192)aaafs	p.K65fs	TIMM50_ENST00000314349.4_Frame_Shift_Del_p.K168fs|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	65					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607																																						uc002olu.1																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(499-501)aaafs		Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.							114	123	120					19																	39972604		2203	4300	6503	SO:0001589	frameshift_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39972604delA	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.190delA	19.37:g.39972604delA	ENSP00000475531:p.Lys65fs					TIMM50_uc002olt.1_Non-coding_Transcript	p.K167fs	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	632	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		64			FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.499delA																																																																																					0.607	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		-	39972604	A	-	39972604	7	5	222	1	0	1	0	1	0	0	0	0	15910	131	5	0	505	0	TIMM50	19	39972604	Frame_Shift_Del	DEL	A	TCGA-32-1977-01A-01D-1353-08	989350	39972604	19156379	109	15545											
ZNF284	342909	broad.mit.edu	37	chr19	44589943	44589943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtcttgccagcaaatctgGgaacaaactgcaagtgagtt	12	10	11	8	0	2	1	0	1	2	0	2	2	2	2	1	2	5	3	1	2	4	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:44589943G>A	ENST00000421176.3	+	5	528	c.312G>A	c.(310-312)tgG>tgA	p.W104*	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGCAAATCTGGGAACAAACTG	0.468																																						uc002oyg.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(310-312)tgG>tgA		Homo sapiens zinc finger protein 284 (ZNF284), mRNA.							97	95	96					19																	44589943		2203	4300	6503	SO:0001587	stop_gained	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44589943G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.312G>A	19.37:g.44589943G>A	ENSP00000411032:p.Trp104*					ZNF284_uc010ejd.2_Non-coding_Transcript	p.W104*	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			4	528	+		Prostate(69;0.0435)	104					Q86WM1	Nonsense_Mutation	SNP	ENST00000421176.3	37	c.312G>A	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479946	0.63849	.	.	ENSG00000186026	ENST00000421176	.	.	.	1.94	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	7.3645	0.26766	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000411032:W104X	W	+	3	0	ZNF284	49281783	0.214000	0.23563	0.067000	0.19924	0.192000	0.23643	2.882000	0.48546	1.373000	0.46208	0.462000	0.41574	TGG		0.468	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		A	44589943	G	A	44589943	4	1	222	1	0	0	0	0	0	1	0	0	17818	1241	43	3	326	3	ZNF284	19	44589943	Nonsense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	4617339	44589943	14539040	110	15546											
ZNF528	84436	broad.mit.edu	37	chr19	52918709	52918709	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagagcatctgcaagccttActaaccaagtaatccataac	15	10	5	11	0	1	1	0	0	1	1	2	1	2	1	3	0	6	3	3	0	7	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:52918709A>C	ENST00000360465.3	+	7	1030	c.604A>C	c.(604-606)Act>Cct	p.T202P	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAAGCCTTACTAACCAAGT	0.398																																						uc002pzh.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(604-606)Act>Cct		Homo sapiens zinc finger protein 528 (ZNF528), mRNA.							94	93	94					19																	52918709		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918709A>C	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.604A>C	19.37:g.52918709A>C	ENSP00000353652:p.Thr202Pro					ZNF528_uc002pzi.3_5'UTR	p.T202P	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	6	1030	+			202					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.604A>C	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	A	1.583	-0.531081	0.04112	.	.	ENSG00000167555	ENST00000360465	T	0.16073	2.37	1.69	-3.37	0.04898	.	.	.	.	.	T	0.19886	0.0478	M	0.83603	2.65	0.09310	N	1	P	0.50943	0.94	P	0.44921	0.464	T	0.05338	-1.0891	9	0.59425	D	0.04	.	0.5492	0.00659	0.4008:0.1273:0.2179:0.254	.	202	Q3MIS6	ZN528_HUMAN	P	202	ENSP00000353652:T202P	ENSP00000353652:T202P	T	+	1	0	ZNF528	57610521	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.085000	0.03390	-3.116000	0.00240	-2.559000	0.00174	ACT		0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		C	52918709	A	C	52918709	3	2	222	1	0	0	0	0	1	0	0	0	17966	391	14	5	618	5	ZNF528	19	52918709	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	8328766	52918709	6210274	111	15547											
NLRP12	91662	broad.mit.edu	37	chr19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccctaggcgcgcattgCggtcttccatgagccggaat	7	10	11	13	4	1	1	0	1	1	0	3	2	3	2	4	3	2	1	4	3	2	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:54314485C>T	ENST00000324134.6	-	3	596	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(427-429)cGc>cAc		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							91	88	89					19																	54314485		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314485C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.428G>A	19.37:g.54314485C>T	ENSP00000319377:p.Arg143His					NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R143H|NLRP12_uc002qci.4_Missense_Mutation_p.R143H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R143H	p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	648	-	Ovarian(34;0.19)		143					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.428G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126245	0.56721	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.47	2.25	0.28309	.	0.000000	0.39020	N	0.001489	D	0.91955	0.7452	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.89399	0.3694	10	0.72032	D	0.01	.	4.834	0.13454	0.0:0.624:0.1789:0.1971	.	143;143;143;143	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	143	ENSP00000319377:R143H;ENSP00000438030:R143H;ENSP00000340473:R143H;ENSP00000346231:R143H;ENSP00000375655:R143H;ENSP00000375653:R143H;ENSP00000375652:R143H	ENSP00000319377:R143H	R	-	2	0	NLRP12	59006297	0.000000	0.05858	0.996000	0.52242	0.962000	0.63368	0.533000	0.23082	0.427000	0.26145	0.306000	0.20318	CGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54314485	C	T	54314485	3	4	222	1	0	0	0	0	1	0	0	0	10474	768	27	1	2885	1	NLRP12	19	54314485	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1395776	54314485	4814498	112	15548											
ZNF416	55659	broad.mit.edu	37	chr19	58084494	58084494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtggactctttgcaGctgaacaagggagcactcac	10	8	12	11	0	2	1	1	1	1	0	3	3	3	3	1	3	4	3	1	3	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:58084494G>A	ENST00000196489.3	-	4	1000	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACTCTTTGCAGCTGAACAAGG	0.458																																						uc002qpf.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(778-780)Ctg>Ttg		Homo sapiens zinc finger protein 416 (ZNF416), mRNA.							127	124	125					19																	58084494		2203	4300	6503	SO:0001819	synonymous_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084494G>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.778C>T	19.37:g.58084494G>A							p.L260L	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	949	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	260					Q9NWW8	Silent	SNP	ENST00000196489.3	37	c.778C>T	CCDS12954.1																																																																																				0.458	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		A	58084494	G	A	58084494	2	1	222	1	0	0	0	0	0	0	0	1	17890	962	34	3		3	ZNF416	19	58084494	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	3770009	58084494	1044489	113	15549											
TRPM2	7226	broad.mit.edu	37	chr21	45786765	45786765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacttcaacatgaagccGcggctgaagagcattttccg	13	8	10	10	3	1	4	1	2	0	2	2	4	2	4	2	1	4	2	2	1	5	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr21:45786765G>A	ENST00000397928.1	+	4	997	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TRPM2_ENST00000300482.5_Silent_p.P184P|TRPM2_ENST00000300481.9_Silent_p.P184P|TRPM2_ENST00000397932.2_Silent_p.P184P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	184					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACATGAAGCCGCGGCTGAAGA	0.637																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(550-552)ccG>ccA		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							36	35	36					21																	45786765		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786765G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.552G>A	21.37:g.45786765G>A						TRPM2_uc002zet.1_Silent_p.P184P|TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	p.P184P	NM_003307	NP_003298	O94759	TRPM2_HUMAN			3	652	+			184					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.552G>A	CCDS13710.1																																																																																				0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45786765	G	A	45786765	2	1	222	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRPM2	21	45786765	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		45786765	2343130	114	15550											
LZTR1	8216	broad.mit.edu	37	chr22	21343151	21343151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttgctggctatgacGgcaacgccaggtgggtggtg	6	10	17	8	2	1	1	0	1	1	0	1	2	1	2	1	6	2	3	1	6	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr22:21343151G>A	ENST00000215739.8	+	6	942	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G176S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	195					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G195C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637																																						uc002zto.3																			1	Substitution - Missense(1)	p.G195C(2)	lung(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(583-585)Ggc>Agc		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							152	113	127					22																	21343151		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21343151G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.583G>A	22.37:g.21343151G>A	ENSP00000215739:p.Gly195Ser					LZTR1_uc002ztn.3_Missense_Mutation_p.G154S|LZTR1_uc011ahy.2_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	p.G195S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		5	686	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	195					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.583G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601619	0.96614	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88934	0.3375	10	0.66056	D	0.02	-43.9936	17.6998	0.88291	0.0:0.0:1.0:0.0	.	176;154;195;154	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	S	154;195;176	ENSP00000215739:G195S;ENSP00000374006:G176S	ENSP00000215739:G195S	G	+	1	0	LZTR1	19673151	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.834000	0.99428	2.785000	0.95823	0.655000	0.94253	GGC		0.637	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		A	21343151	G	A	21343151	3	1	222	1	0	0	0	0	1	0	0	0	9137	1116	39	2	605	2	LZTR1	22	21343151	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		21343151	29961415	115	15551											
SYTL5	94122	broad.mit.edu	37	chrX	37955451	37955451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcagaggatactgtaagCataagaagcaagtctgtccc	14	8	10	9	0	2	2	1	0	1	2	3	4	3	3	1	1	3	3	1	1	5	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chrX:37955451C>T	ENST00000357972.5	+	9	1572	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.S342S|SYTL5_ENST00000456733.2_Silent_p.S342S			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	342					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACTGTAAGCATAAGAAGCA	0.413																																						uc004ddx.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1024-1026)agC>agT		Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.							105	93	97					X																	37955451		2202	4300	6502	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37955451C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1026C>T	X.37:g.37955451C>T						SYTL5_uc004ddu.3_Silent_p.S342S|SYTL5_uc004ddv.3_Silent_p.S342S	p.S342S	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN			7	1382	+			342					A2RRF2	Silent	SNP	ENST00000357972.5	37	c.1026C>T	CCDS14244.1																																																																																				0.413	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		T	37955451	C	T	37955451	2	4	222	1	0	0	0	0	0	0	0	1	15483	709	25	3		3	SYTL5	23	37955451	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		37955451	117315109	116	15552											
GRHL3	57822	broad.mit.edu	37	chr1	24669384	24669384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttctcccatcaggcGtcaagggctgcctgctgtcg	4	11	11	15	2	3	0	2	0	1	0	6	0	4	0	3	2	2	3	3	2	1	2	rs199801227		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:24669384G>A	ENST00000350501.5	+	11	1415	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	GRHL3_ENST00000342072.4_Missense_Mutation_p.V337I|GRHL3_ENST00000236255.4_Missense_Mutation_p.V435I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V384I|GRHL3_ENST00000361548.4_Missense_Mutation_p.V430I	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	430					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCATCAGGCGTCAAGGGCTG	0.632													G|||	1	0.000199681	0	0	5008	,	,		17660	0.001		0	False		,,,				2504	0					uc021oiw.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1288-1290)Gtc>Atc		Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.							97	102	101					1																	24669384		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669384G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1288G>A	1.37:g.24669384G>A	ENSP00000288955:p.Val430Ile					GRHL3_uc001bix.3_Missense_Mutation_p.V430I|GRHL3_uc021oix.1_Missense_Mutation_p.V384I|GRHL3_uc001biy.3_Missense_Mutation_p.V435I|GRHL3_uc001biz.3_Missense_Mutation_p.V337I	p.V430I	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1518	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	430					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1288G>A	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.825	0.153433	0.09185	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11495	2.94;2.77;2.92;2.93;2.93	5.22	0.0313	0.14170	.	0.620437	0.16759	N	0.200703	T	0.05273	0.0140	N	0.16368	0.405	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41052	-0.9530	10	0.22109	T	0.4	-17.9822	6.1749	0.20439	0.4934:0.3323:0.1743:0.0	.	384;435;430	A2A297;Q8TE85-2;G3XAF0	.;.;.	I	430;337;430;384;435	ENSP00000354943:V430I;ENSP00000340543:V337I;ENSP00000288955:V430I;ENSP00000348333:V384I;ENSP00000236255:V435I	ENSP00000236255:V435I	V	+	1	0	GRHL3	24541971	0.005000	0.15991	0.936000	0.37596	0.588000	0.36517	-0.086000	0.11233	0.103000	0.17682	-0.302000	0.09304	GTC		0.632	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		A	24669384	G	A	24669384	3	1	223	1	0	0	0	0	1	0	0	0	6765	1145	40	1	1366	1	GRHL3	1	24669384	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		24669384	224581237	1	15553											
YTHDF2	51441	broad.mit.edu	37	chr1	29069013	29069013	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagctgcttggtctacGgggggtgacacagccatgcc	7	8	16	10	1	1	2	0	2	1	0	1	2	1	2	2	5	5	2	2	5	2	2	rs11553689		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:29069013G>A	ENST00000373812.3	+	4	593	c.231G>A	c.(229-231)acG>acA	p.T77T	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Silent_p.T27T|YTHDF2_ENST00000542507.1_Silent_p.T77T	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	77	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTCTACGGGGGGTGACA	0.502													G|||	1	0.000199681	0	0	5008	,	,		16970	0.001		0	False		,,,				2504	0					uc021okf.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(229-231)acG>acA		Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.							160	156	157					1																	29069013		1935	4136	6071	SO:0001819	synonymous_variant	51441				humoral immune response			g.chr1:29069013G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.231G>A	1.37:g.29069013G>A						YTHDF2_uc001brc.3_Silent_p.T77T|YTHDF2_uc010ofx.2_Silent_p.T27T|YTHDF2_uc001bre.3_Silent_p.T27T	p.T77T	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	494	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	77					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Silent	SNP	ENST00000373812.3	37	c.231G>A	CCDS41296.1																																																																																				0.502	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		A	29069013	G	A	29069013	2	1	223	1	0	0	0	0	0	0	0	1	17496	1103	39	2		2	YTHDF2	1	29069013	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	4399629	29069013	220181608	2	15554											
BRDT	676	broad.mit.edu	37	chr1	92445139	92445139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacaggatgttttcgaaaCgcatttttcaaagatcccga	13	13	7	8	3	1	1	1	0	0	1	3	4	2	2	1	1	2	2	1	1	3	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:92445139C>T	ENST00000362005.3	+	9	1530	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	BRDT_ENST00000399546.2_Missense_Mutation_p.T371M|BRDT_ENST00000370389.2_Missense_Mutation_p.T298M|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000402388.1_Missense_Mutation_p.T371M|BRDT_ENST00000394530.3_Missense_Mutation_p.T325M	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	371					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTTTTCGAAACGCATTTTTCA	0.318																																						uc001dol.4																			0		p.T371T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1111-1113)aCg>aTg		Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.							79	80	80					1																	92445139		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92445139C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1112C>T	1.37:g.92445139C>T	ENSP00000354568:p.Thr371Met					BRDT_uc010osz.2_Missense_Mutation_p.T375M|BRDT_uc001dok.4_Missense_Mutation_p.T371M|BRDT_uc009wdf.3_Missense_Mutation_p.T298M|BRDT_uc010otb.2_Missense_Mutation_p.T325M|BRDT_uc010ota.2_Missense_Mutation_p.T325M|BRDT_uc001dom.4_Missense_Mutation_p.T371M	p.T371M	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	8	1530	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	371					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1112C>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674630	0.00758	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	5.65	3.33	0.38152	Bromodomain (3);	0.445078	0.23640	N	0.046022	T	0.00906	0.0030	N	0.00347	-1.61	0.27823	N	0.941727	B;B;B;B	0.16166	0.008;0.008;0.016;0.008	B;B;B;B	0.11329	0.0;0.0;0.006;0.0	T	0.46020	-0.9221	10	0.02654	T	1	-3.6003	5.0385	0.14447	0.1343:0.1515:0.0:0.7143	.	325;325;375;371	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	M	371;298;371;371;325;371;371	ENSP00000354568:T371M;ENSP00000359416:T298M;ENSP00000387822:T371M;ENSP00000378038:T325M;ENSP00000404969:T371M;ENSP00000384051:T371M	ENSP00000354568:T371M	T	+	2	0	BRDT	92217727	1.000000	0.71417	0.999000	0.59377	0.162000	0.22319	1.178000	0.31981	0.416000	0.25844	-0.302000	0.09304	ACG		0.318	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		T	92445139	C	T	92445139	3	4	223	1	0	0	0	0	1	0	0	0	1508	536	19	1	1138	1	BRDT	1	92445139	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	63376126	92445139	156805482	3	15555											
APH1A	51107	broad.mit.edu	37	chr1	150241179	150241179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgggccgaacgcgacgAaagtgcagccgaaaaacacc	14	1	13	13	6	0	0	0	0	0	0	0	4	0	0	4	2	4	1	4	2	4	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:150241179A>G	ENST00000369109.3	-	1	220	c.32T>C	c.(31-33)tTc>tCc	p.F11S	APH1A_ENST00000414276.2_Missense_Mutation_p.F11S|APH1A_ENST00000360244.4_Missense_Mutation_p.F11S|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	11					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACGCGACGAAAGTGCAGCC	0.662																																						uc001ety.2																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(31-33)tTc>tCc		Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.							23	30	28					1																	150241179		1893	4096	5989	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150241179A>G	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.32T>C	1.37:g.150241179A>G	ENSP00000358105:p.Phe11Ser					APH1A_uc001etz.2_Missense_Mutation_p.F11S|APH1A_uc010pbx.2_Missense_Mutation_p.F11S|APH1A_uc010pby.2_Missense_Mutation_p.F11S|APH1A_uc010pbz.2_5'UTR	p.F11S	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	431	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		11					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.32T>C	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027918	0.75390	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D	0.69078	0.961;0.997;0.969;0.975;0.986	P;D;P;P;P	0.79108	0.673;0.992;0.527;0.658;0.677	T	0.75665	-0.3239	10	0.87932	D	0	-11.9599	12.9606	0.58455	1.0:0.0:0.0:0.0	.	11;11;11;11;11	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	S	11	ENSP00000358105:F11S;ENSP00000353380:F11S;ENSP00000397473:F11S;ENSP00000236017:F11S	ENSP00000236017:F11S	F	-	2	0	APH1A	148507803	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.532000	0.60608	2.155000	0.67459	0.459000	0.35465	TTC		0.662	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		G	150241179	A	G	150241179	3	3	223	1	0	0	0	0	1	0	0	0	771	246	9	4	804	4	APH1A	1	150241179	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	57796040	150241179	99009442	4	15556											
OR6N2	81442	broad.mit.edu	37	chr1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaatgatttccttgttacGaagactgtagataattggat	12	17	8	4	1	0	3	0	1	0	2	1	5	1	4	1	1	1	2	1	1	5	8	rs144962739		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:158746549G>A	ENST00000339258.1	-	1	876	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418																																						uc010pir.2																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(877-879)Cgt>Tgt		Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.		G	CYS/ARG	0,4406		0,0,2203	170	160	163		877	4.6	1	1	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N2	NM_001005278.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	293/318	158746549	1,13005	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746549G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.877C>T	1.37:g.158746549G>A	ENSP00000344101:p.Arg293Cys						p.R293C	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			0	877	-	all_hematologic(112;0.0378)		293					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.877C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082889	0.55861	0.0	1.16E-4	ENSG00000188340	ENST00000339258	T	0.40476	1.03	4.64	4.64	0.57946	.	0.000000	0.34156	N	0.004219	T	0.51550	0.1681	M	0.72479	2.2	0.43007	D	0.994533	D	0.89917	1.0	D	0.70227	0.968	T	0.57046	-0.7878	10	0.87932	D	0	-10.9219	10.1599	0.42844	0.0:0.0:0.6865:0.3135	.	293	Q8NGY6	OR6N2_HUMAN	C	293	ENSP00000344101:R293C	ENSP00000344101:R293C	R	-	1	0	OR6N2	157013173	0.876000	0.30132	1.000000	0.80357	0.987000	0.75469	2.117000	0.41939	2.381000	0.81170	0.650000	0.86243	CGT		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			A	158746549	G	A	158746549	3	1	223	1	0	0	0	0	1	0	0	0	11207	1058	37	2	79	2	OR6N2	1	158746549	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	8505370	158746549	90504072	5	15557											
GPR25	2848	broad.mit.edu	37	chr1	200842843	200842843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctactgccgcatctcGcgccgcctgcgacggccgcc	3	8	11	19	7	2	0	0	0	2	0	3	1	2	0	5	1	4	2	5	1	1	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:200842843G>A	ENST00000304244.2	+	1	761	c.678G>A	c.(676-678)tcG>tcA	p.S226S		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	226					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCGCATCTCGCGCCGCCTGC	0.682																																						uc001gvn.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(676-678)tcG>tcA		Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.							23	27	25					1																	200842843		2179	4277	6456	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842843G>A	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.678G>A	1.37:g.200842843G>A							p.S226S	NM_005298	NP_005289	O00155	GPR25_HUMAN			0	678	+			226					A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.678G>A	CCDS1405.1																																																																																				0.682	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		A	200842843	G	A	200842843	2	1	223	1	0	0	0	0	0	0	0	1	6683	1074	38	1		1	GPR25	1	200842843	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	42096294	200842843	48407778	6	15558											
DUSP10	11221	broad.mit.edu	37	chr1	221879666	221879666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggggtgagctcagcgttCtcgatgtcaggggtggtggg	5	10	20	6	2	3	1	2	1	1	0	4	2	3	1	0	6	2	2	0	6	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:221879666C>G	ENST00000366899.3	-	3	1192	c.954G>C	c.(952-954)gaG>gaC	p.E318D	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	318					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCTCAGCGTTCTCGATGTCAG	0.632																																						uc001hmy.2																			0		p.E318*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(952-954)gaG>gaC		Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.							115	118	117					1																	221879666		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879666C>G	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.954G>C	1.37:g.221879666C>G	ENSP00000355866:p.Glu318Asp					DUSP10_uc001hmx.2_5'UTR|DUSP10_uc001hmz.2_5'UTR	p.E318D	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	1191	-			318					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.954G>C	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003229	0.35320	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.58358	0.34	5.34	5.34	0.76211	.	0.110601	0.64402	D	0.000008	T	0.40670	0.1126	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.30297	-0.9983	10	0.09338	T	0.73	.	19.3865	0.94557	0.0:1.0:0.0:0.0	.	318	Q9Y6W6	DUS10_HUMAN	D	318;263	ENSP00000355866:E318D	ENSP00000355866:E318D	E	-	3	2	DUSP10	219946289	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.049000	0.57397	2.644000	0.89710	0.591000	0.81541	GAG		0.632	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		G	221879666	C	G	221879666	3	3	223	1	0	0	0	0	1	0	0	0	4810	912	32	5	502	5	DUSP10	1	221879666	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	21036823	221879666	27370955	7	15559											
APOB	338	broad.mit.edu	37	chr2	21233457	21233457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcaggtttctctgtaCgttttccagtacaactataa	9	16	7	9	1	2	0	1	0	1	0	4	0	3	0	1	1	4	5	1	1	5	8	rs200874264		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:21233457C>T	ENST00000233242.1	-	26	6410	c.6283G>A	c.(6283-6285)Gta>Ata	p.V2095I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2095	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTCTGTACGTTTTCCAGT	0.368																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6283-6285)Gta>Ata		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						69	72	71					2																	21233457		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233457C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6283G>A	2.37:g.21233457C>T	ENSP00000233242:p.Val2095Ile						p.V2095I	NM_000384	NP_000375	P04114	APOB_HUMAN			25	6411	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2095			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6283G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.329336	0.00229	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00675	5.88	5.14	-0.674	0.11369	.	0.683578	0.13782	N	0.363149	T	0.00328	0.0010	N	0.01800	-0.715	0.40036	D	0.975595	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.02654	T	1	.	7.2646	0.26222	0.0:0.2765:0.1816:0.5419	.	2095	P04114	APOB_HUMAN	I	2095	ENSP00000233242:V2095I	ENSP00000233242:V2095I	V	-	1	0	APOB	21086962	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	0.030000	0.13688	-0.004000	0.14419	-0.415000	0.06103	GTA		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21233457	C	T	21233457	3	4	223	1	0	0	0	0	1	0	0	0	785	536	19	1	7424	1	APOB	2	21233457	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		21233457	221965916	8	15560											
TMEM150A	129303	broad.mit.edu	37	chr2	85828199	85828199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgggacccccttgctcagCagggtcaggagggcaggact	7	7	15	12	0	2	0	2	0	0	0	2	3	2	3	2	5	2	3	2	5	0	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:85828199C>G	ENST00000409668.1	-	3	612	c.145G>C	c.(145-147)Gct>Cct	p.A49P	TMEM150A_ENST00000306353.3_Silent_p.L18L|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A49P			Q86TG1	T150A_HUMAN	transmembrane protein 150A	49					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCTTGCTCAGCAGGGTCAGGA	0.642																																						uc002spy.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(145-147)Gct>Cct		Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.							56	48	51					2																	85828199		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85828199C>G	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.145G>C	2.37:g.85828199C>G	ENSP00000387292:p.Ala49Pro					USP39_uc002sqb.3_5'Flank|TMEM150A_uc002spx.2_5'UTR|TMEM150A_uc002spz.2_Silent_p.L18L	p.A49P	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN			3	354	-			49					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.145G>C	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489384	0.26686	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.45668	0.89;0.89	5.06	4.17	0.49024	.	0.340804	0.29260	N	0.012666	T	0.23611	0.0571	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13683	-1.0500	10	0.28530	T	0.3	-29.643	8.3461	0.32275	0.0:0.887:0.0:0.113	.	49	Q86TG1	T150A_HUMAN	P	49	ENSP00000334708:A49P;ENSP00000387292:A49P	ENSP00000334708:A49P	A	-	1	0	TMEM150A	85681710	0.000000	0.05858	0.991000	0.47740	0.998000	0.95712	-0.925000	0.03992	1.072000	0.40860	0.655000	0.94253	GCT		0.642	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		G	85828199	C	G	85828199	3	3	223	1	0	0	0	0	1	0	0	0	16064	710	25	5	690	5	TMEM150A	2	85828199	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	64594742	85828199	157371174	9	15561											
BAZ2B	29994	broad.mit.edu	37	chr2	160241783	160241783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttcagtaagctcagttTgtccacagtgggcttccata	9	13	9	10	0	2	0	2	0	0	0	4	1	4	0	2	1	1	4	2	1	2	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:160241783T>C	ENST00000392783.2	-	23	4064	c.3569A>G	c.(3568-3570)cAa>cGa	p.Q1190R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q1154R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q1090R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q1156R|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGCTCAGTTTGTCCACAGTG	0.438																																						uc002uao.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3568-3570)cAa>cGa		Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.							119	116	117					2																	160241783		1861	4102	5963	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160241783T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3569A>G	2.37:g.160241783T>C	ENSP00000376534:p.Gln1190Arg					BAZ2B_uc002uap.3_Missense_Mutation_p.Q1154R	p.Q1190R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			22	3974	-			1190					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3569A>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516159	0.85495	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58940	0.36;0.36;0.36;0.3	5.75	5.75	0.90469	.	0.000000	0.35585	U	0.003110	T	0.54647	0.1871	N	0.21194	0.64	0.41915	D	0.990488	P;D	0.54207	0.493;0.965	B;P	0.50791	0.116;0.65	T	0.57283	-0.7838	10	0.44086	T	0.13	-6.6485	16.0539	0.80782	0.0:0.0:0.0:1.0	.	1154;1190	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	R	1154;1190;1156;1090	ENSP00000376533:Q1154R;ENSP00000376534:Q1190R;ENSP00000348087:Q1156R;ENSP00000339670:Q1090R	ENSP00000339670:Q1090R	Q	-	2	0	BAZ2B	159950029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.186000	0.72026	2.193000	0.70182	0.533000	0.62120	CAA		0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			C	160241783	T	C	160241783	3	2	223	1	0	0	0	0	1	0	0	0	1332	1812	63	4	2997	4	BAZ2B	2	160241783	Missense_Mutation	SNP	T	TCGA-32-1979-01A-01D-1696-08	74413584	160241783	82957590	10	15562											
ARPC2	10109	broad.mit.edu	37	chr2	219103491	219103492	+	Frame_Shift_Del	DEL	TT	TT	-																															gaaattgttttgcctctgtcTttgaaaaatacttccaattc																										TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:219103491_219103492delTT	ENST00000295685.10	+	5	634_635	c.373_374delTT	c.(373-375)tttfs	p.F125fs	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Frame_Shift_Del_p.F125fs	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	125					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCTCTGTCTTTGAAAAATAC	0.416																																						uc002vhd.3																			0		p.V124V(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(373-375)tttfs		Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219103491_219103492delTT	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.373_374delTT	2.37:g.219103491_219103492delTT	ENSP00000295685:p.Phe125fs					ARPC2_uc002vhe.3_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.3_Frame_Shift_Del_p.F11fs	p.F125fs	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	5	485_486	+		Renal(207;0.0474)	125					Q92801|Q9P1D4	Frame_Shift_Del	DEL	ENST00000295685.10	37	c.373_374delTT	CCDS2410.1																																																																																				0.416	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		-	219103492	TT	-	219103491	7	5	223	1	0	1	0	1	0	0	0	0	971	1609	56	0	391	0	ARPC2	2	219103491	Frame_Shift_Del	DEL	TT	TCGA-32-1979-01A-01D-1696-08	58861708	219103491	24095882	11	15563											
UGT1A5	54579	broad.mit.edu	37	chr2	234621782	234621782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatgcgggaggccttgCgggacctccatgcgagaggc	7	6	16	12	3	1	1	1	0	0	1	2	4	2	3	3	4	4	1	3	4	0	1	rs41270755	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:234621782C>T	ENST00000373414.3	+	1	145	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.R49W|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	49						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGAGGCCTTGCGGGACCTCCA	0.582													C|||	5	0.000998403	0	0.0029	5008	,	,		19566	0		0.003	False		,,,				2504	0					uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(145-147)Cgg>Tgg		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	C	,,,,TRP/ARG,,	1,4405	2.1+/-5.4	0,1,2202	56	51	53		,,,,145,,	-0.9	0	2	dbSNP_127	53	20,8580	14.6+/-50.1	1,18,4281	no	intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,101,,	1,19,6483	TT,TC,CC		0.2326,0.0227,0.1615	,,,,,,	,,,,49/535,,	234621782	21,12985	2203	4300	6503	SO:0001583	missense	54579				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234621782C>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.145C>T	2.37:g.234621782C>T	ENSP00000362513:p.Arg49Trp					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.R49W	p.R49W	NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	145	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	48					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.145C>T	CCDS33404.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.59	2.580055	0.46006	2.27E-4	0.002326	ENSG00000240224	ENST00000373414	T	0.63913	-0.07	4.83	-0.894	0.10563	.	0.976806	0.08437	N	0.946077	T	0.70237	0.3201	M	0.64997	1.995	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.58077	0.832;0.832	T	0.62158	-0.6913	10	0.87932	D	0	.	9.8644	0.41134	0.5246:0.1857:0.2897:0.0	rs41270755	49;49	Q5DSZ9;P35504	.;UD15_HUMAN	W	49	ENSP00000362513:R49W	ENSP00000362513:R49W	R	+	1	2	UGT1A5	234286521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.010000	0.03656	-0.571000	0.06014	-0.330000	0.08379	CGG		0.582	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		T	234621782	C	T	234621782	3	4	223	1	0	0	0	0	1	0	0	0	16945	759	27	1	147	1	UGT1A5	2	234621782	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	15518291	234621782	8577591	12	15564											
WDR82	80335	broad.mit.edu	37	chr3	52304745	52304745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccgtctattttgttagagCtgtaaacaactgtgtttgct	9	17	8	7	1	1	1	0	0	1	1	1	1	1	1	1	0	5	5	1	0	6	7			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:52304745C>G	ENST00000296490.3	-	2	523	c.242G>C	c.(241-243)aGc>aCc	p.S81T	MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	81					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTTGTTAGAGCTGTAAACAAC	0.378																																						uc003ddl.2																			0											c.(241-243)aGc>aCc		Homo sapiens WD repeat domain 82 (WDR82), mRNA.							235	211	219					3																	52304745		1866	4106	5972	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52304745C>G	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.242G>C	3.37:g.52304745C>G	ENSP00000296490:p.Ser81Thr					WDR82_uc003ddk.2_5'Flank|MIRLET7G_uc011bee.2_5'Flank	p.S81T	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	1	524	-			81					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.242G>C	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511435	0.64522	.	.	ENSG00000164091	ENST00000296490	T	0.18960	2.18	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71871	2.18	0.80722	D	1	B	0.19706	0.038	B	0.21151	0.033	T	0.03717	-1.1010	10	0.41790	T	0.15	-27.8536	19.9661	0.97271	0.0:1.0:0.0:0.0	.	81	Q6UXN9	WDR82_HUMAN	T	81	ENSP00000296490:S81T	ENSP00000296490:S81T	S	-	2	0	WDR82	52279785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.740000	0.84986	2.719000	0.93026	0.650000	0.86243	AGC		0.378	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		G	52304745	C	G	52304745	3	3	223	1	0	0	0	0	1	0	0	0	17328	797	28	5	731	5	WDR82	3	52304745	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		52304745	145717685	13	15565											
DNAH12	201625	broad.mit.edu	37	chr3	57493505	57493505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcattatcttctcttctgcGtttctagtttgtattgatag	6	22	6	7	1	5	1	1	1	4	0	6	1	5	1	0	0	1	3	0	0	4	10	rs376621969		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:57493505G>A	ENST00000351747.2	-	8	942	c.762C>T	c.(760-762)aaC>aaT	p.N254N	DNAH12_ENST00000311202.6_Silent_p.N254N|DNAH12_ENST00000389536.4_Silent_p.N254N	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	254	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTCTTCTGCGTTTCTAGTTT	0.333													G|||	1	0.000199681	0	0	5008	,	,		16852	0		0	False		,,,				2504	0.001					uc003dit.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(760-762)aaC>aaT		Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	159	150	153		762,762	-3.7	0.8	3		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	254/3093,254/458	57493505	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493505G>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.762C>T	3.37:g.57493505G>A						DNAH12_uc003diu.2_Silent_p.N254N	p.N254N	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			7	943	-			254			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.762C>T																																																																																					0.333	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		A	57493505	G	A	57493505	2	1	223	1	0	0	0	0	0	0	0	1	4600	1136	40	1		1	DNAH12	3	57493505	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	5188760	57493505	140528925	14	15566											
AADACL2	344752	broad.mit.edu	37	chr3	151475339	151475339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatttacgtctaggtcttaGgataagagatatgtatgtaa	13	16	9	3	1	2	1	0	0	2	1	2	3	2	2	0	2	1	2	0	2	8	9			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:151475339G>A	ENST00000356517.3	+	5	1272	c.1163G>A	c.(1162-1164)aGg>aAg	p.R388K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	388						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTAGGTCTTAGGATAAGAGAT	0.328																																						uc003ezc.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(1162-1164)aGg>aAg		Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.							77	82	80					3																	151475339		2203	4297	6500	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475339G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1163G>A	3.37:g.151475339G>A	ENSP00000348911:p.Arg388Lys					MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.R175K	p.R388K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1283	+			388					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1163G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331658	0.60853	.	.	ENSG00000197953	ENST00000356517	T	0.58060	0.36	5.01	3.09	0.35607	.	0.242953	0.44483	N	0.000449	T	0.35566	0.0936	L	0.31476	0.935	0.22081	N	0.999379	B	0.31009	0.303	B	0.28011	0.085	T	0.17715	-1.0360	10	0.34782	T	0.22	-23.0164	8.2723	0.31851	0.2657:0.0:0.7343:0.0	.	388	Q6P093	ADCL2_HUMAN	K	388	ENSP00000348911:R388K	ENSP00000348911:R388K	R	+	2	0	AADACL2	152958029	0.892000	0.30473	0.010000	0.14722	0.825000	0.46686	2.110000	0.41873	1.263000	0.44181	0.591000	0.81541	AGG		0.328	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		A	151475339	G	A	151475339	3	1	223	1	0	0	0	0	1	0	0	0	11	1000	35	3	1181	3	AADACL2	3	151475339	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	93981834	151475339	46547091	15	15567											
PIK3CA	5290	broad.mit.edu	37	chr3	178952152	178952152	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcatgcattgaactgAaaagataactgagaaaatga	21	7	8	5	0	0	5	0	4	0	2	0	6	0	5	0	0	5	2	0	0	7	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:178952152A>G	ENST00000263967.3	+	21	3364	c.3207A>G	c.(3205-3207)tgA>tgG	p.*1069W	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	0					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.*1069_*1069insWKDN*(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATTGAACTGAAAAGATAACT	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		3	Insertion - In frame(3)	p.N1068fs*4(15)|p.*1069_*1069insWKDN*(6)|p.N1068fs*5(2)|p.*1069W(1)|p.*1069fs*3(1)	endometrium(2)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3205-3207)tgA>tgG		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							79	71	74					3																	178952152		1897	4138	6035	SO:0001578	stop_lost	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952152A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3207A>G	3.37:g.178952152A>G	ENSP00000263967:p.*1069Trpext*4	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.*1069W	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3364	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		0					Q14CW1|Q99762	Nonstop_Mutation	SNP	ENST00000263967.3	37	c.3207A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351538	0.41700	.	.	ENSG00000121879	ENST00000263967	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3945	0.83586	1.0:0.0:0.0:0.0	.	.	.	.	W	1069	.	.	X	+	3	0	PIK3CA	180434846	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	8.526000	0.90588	2.265000	0.75225	0.482000	0.46254	TGA		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178952152	A	G	178952152	4	3	223	1	0	0	0	0	0	0	0	0	11913	259	9	4	3285	4	PIK3CA	3	178952152	Nonstop_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	27476813	178952152	19070278	16	15568											
GABRG1	2565	broad.mit.edu	37	chr4	46043099	46043099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtcaattttggcaatgCgtatgtgtatccttccttcc	9	15	8	9	1	1	1	1	0	0	1	4	1	4	1	3	1	1	3	3	1	5	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:46043099C>T	ENST00000295452.4	-	9	1471	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	435					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGGCAATGCGTATGTGTAT	0.403																																						uc003gxb.3																			0		p.R435C(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1303-1305)cGc>cAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.							130	131	130					4																	46043099		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043099C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1304G>A	4.37:g.46043099C>T	ENSP00000295452:p.Arg435His						p.R435H	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1456	-			435					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1304G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200494	0.22121	.	.	ENSG00000163285	ENST00000295452	D	0.83755	-1.76	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.117464	0.64402	D	0.000011	T	0.73984	0.3657	N	0.17631	0.505	0.47276	D	0.999373	B	0.24317	0.101	B	0.18263	0.021	T	0.69057	-0.5246	10	0.37606	T	0.19	.	18.356	0.90357	0.0:1.0:0.0:0.0	.	435	Q8N1C3	GBRG1_HUMAN	H	435	ENSP00000295452:R435H	ENSP00000295452:R435H	R	-	2	0	GABRG1	45737856	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	3.822000	0.55708	2.580000	0.87095	0.585000	0.79938	CGC		0.403	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		T	46043099	C	T	46043099	3	4	223	1	0	0	0	0	1	0	0	0	6171	768	27	1	97	1	GABRG1	4	46043099	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		46043099	145111177	17	15569											
FRYL	285527	broad.mit.edu	37	chr4	48536560	48536560	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagttttgtggtcactcAcctgtacatatttgccaata	10	16	7	8	0	2	0	2	0	0	0	2	0	2	0	2	1	2	3	2	1	5	7			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:48536560A>C	ENST00000503238.1	-	46	6705		c.e46+1		FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000358350.4_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						gtggtcacTCACCTGTACATA	0.343																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e49+1		Homo sapiens FRY-like (FRYL), mRNA.							79	72	74					4																	48536560		1833	4096	5929	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48536560A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6705+1T>G	4.37:g.48536560A>C						FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	p.Q2235_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			49	7310	-			2235					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.6705_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156337	0.57259	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.67	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1288	0.53932	0.8714:0.0:0.0:0.1286	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48231317	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	9.297000	0.96120	0.964000	0.38108	0.528000	0.53228	.		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	C	48536560	A	C	48536560	5	2	223	1	0	0	0	0	0	0	1	0	6064	173	6	5	2398	5	FRYL	4	48536560	Splice_Site	SNP	A	TCGA-32-1979-01A-01D-1696-08	2493461	48536560	142617716	18	15570											
UGT2B28	54490	broad.mit.edu	37	chr4	70160487	70160487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtctgttttgtttctGgaagtttgctagaaaaggga	8	18	12	3	0	2	1	0	0	2	1	2	3	2	3	0	2	1	5	0	2	4	7			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:70160487G>A	ENST00000335568.5	+	6	1552	c.1550G>A	c.(1549-1551)tGg>tAg	p.W517*	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	517					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTGTTTCTGGAAGTTTGCT	0.413																																						uc003hej.3																			0		p.F516F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1549-1551)tGg>tAg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						112	123	120					4																	70160487		2028	4232	6260	SO:0001587	stop_gained	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160487G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1550G>A	4.37:g.70160487G>A	ENSP00000334276:p.Trp517*					UGT2B28_uc010ihr.3_3'UTR	p.W517*	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1552	+			517					B5BUM0|Q9BY62|Q9BY63	Nonsense_Mutation	SNP	ENST00000335568.5	37	c.1550G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.622098	0.28889	.	.	ENSG00000135226	ENST00000335568	.	.	.	1.85	-1.98	0.07480	.	0.189275	0.30658	U	0.009160	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	2.5534	0.04754	0.4673:0.0:0.3099:0.2228	.	.	.	.	X	517	.	ENSP00000334276:W517X	W	+	2	0	UGT2B28	70195076	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.014000	0.03641	-0.865000	0.04073	0.184000	0.17185	TGG		0.413	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		A	70160487	G	A	70160487	4	1	223	1	0	0	0	0	0	1	0	0	16957	1357	47	3	1572	3	UGT2B28	4	70160487	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	21623927	70160487	120993789	19	15571											
ANKRD17	26057	broad.mit.edu	37	chr4	73959897	73959897	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatattacagcctcctctTccaatcactctggatatcac	10	14	4	13	0	4	1	2	1	2	0	6	2	6	2	3	1	2	0	3	1	4	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:73959897T>C	ENST00000358602.4	-	28	5342	c.5226A>G	c.(5224-5226)ggA>ggG	p.G1742G	ANKRD17_ENST00000509867.2_Silent_p.G1629G|ANKRD17_ENST00000330838.6_Silent_p.G1491G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1742	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCTCCTCTTCCAATCACTC	0.333																																						uc003hgp.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5224-5226)ggA>ggG		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							147	136	140					4																	73959897		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73959897T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5226A>G	4.37:g.73959897T>C						ANKRD17_uc003hgo.3_Silent_p.G1629G|ANKRD17_uc003hgq.3_Silent_p.G1491G|ANKRD17_uc003hgr.3_Silent_p.G1741G	p.G1742G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		27	5343	-	Breast(15;0.000295)		1742			KH.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5226A>G	CCDS34004.1																																																																																				0.333	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		C	73959897	T	C	73959897	2	2	223	1	0	0	0	0	0	0	0	1	646	1770	62	4		4	ANKRD17	4	73959897	Silent	SNP	T	TCGA-32-1979-01A-01D-1696-08	3799410	73959897	117194379	20	15572											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005491	118005491	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctactctatttgaagtTtccactcccactccgttttc	7	16	4	14	1	2	1	0	1	2	0	6	1	5	1	3	0	1	2	3	0	3	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:118005491T>G	ENST00000310754.4	-	1	1245	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	353					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TATTTGAAGTTTCCACTCCCA	0.393																																						uc003ibv.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1057-1059)gaA>gaC		Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.							154	159	157					4																	118005491		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005491T>G	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1059A>C	4.37:g.118005491T>G	ENSP00000309402:p.Glu353Asp						p.E353D	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			0	1246	-			353					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1059A>C	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	T	9.957	1.221772	0.22457	.	.	ENSG00000174599	ENST00000310754	T	0.43688	0.94	3.74	-1.38	0.09027	.	0.394016	0.24217	U	0.040464	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.26845	0.161	B	0.25987	0.065	T	0.21827	-1.0234	10	0.15499	T	0.54	-13.609	4.9209	0.13869	0.0:0.4262:0.1861:0.3877	.	353	Q8N609	TR1L1_HUMAN	D	353	ENSP00000309402:E353D	ENSP00000309402:E353D	E	-	3	2	TRAM1L1	118224939	0.019000	0.18553	0.001000	0.08648	0.627000	0.37826	-0.452000	0.06787	-0.233000	0.09797	0.528000	0.53228	GAA		0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		G	118005491	T	G	118005491	3	3	223	1	0	0	0	0	1	0	0	0	16449	1838	64	5	54	5	TRAM1L1	4	118005491	Missense_Mutation	SNP	T	TCGA-32-1979-01A-01D-1696-08	44045594	118005491	73148785	21	15573											
TKTL2	84076	broad.mit.edu	37	chr4	164394680	164394680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaggatgaaccggtcGttgtccgggtgttctgggtc	5	11	17	8	3	1	2	0	1	1	1	4	4	2	3	2	5	1	2	2	5	1	2	rs114941835		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:164394680G>A	ENST00000280605.3	-	1	367	c.207C>T	c.(205-207)aaC>aaT	p.N69N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	69						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.N69K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAACCGGTCGTTGTCCGGGT	0.557													G|||	1	0.000199681	0	0	5008	,	,		18604	0		0.001	False		,,,				2504	0					uc003iqp.4																			1	Substitution - Missense(1)	p.N69K(2)	lung(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(205-207)aaC>aaT		Homo sapiens transketolase-like 2 (TKTL2), mRNA.							168	115	133					4																	164394680		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394680G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.207C>T	4.37:g.164394680G>A							p.N69N	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			0	368	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	69					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.207C>T	CCDS3805.1																																																																																				0.557	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164394680	G	A	164394680	2	1	223	1	0	0	0	0	0	0	0	1	15933	1136	40	1		1	TKTL2	4	164394680	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	46389189	164394680	26759596	22	15574											
IRX2	153572	broad.mit.edu	37	chr5	2749815	2749815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcggtacgcggggtcgttGagctggtacgggtaggccgc	4	9	19	9	6	0	1	0	1	0	0	1	1	0	1	1	6	4	5	1	6	3	5	rs138413279	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:2749815G>A	ENST00000382611.6	-	2	584	c.336C>T	c.(334-336)ctC>ctT	p.L112L	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.L112L|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	112					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682																																						uc003jda.3																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(334-336)ctC>ctT		Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.							99	84	89					5																	2749815		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749815G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.336C>T	5.37:g.2749815G>A						C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.L112L	p.L112L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	1	578	-			112					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.336C>T	CCDS3868.1																																																																																				0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			A	2749815	G	A	2749815	2	1	223	1	0	0	0	0	0	0	0	1	7844	1277	45	3		3	IRX2	5	2749815	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		2749815	178165445	23	15575											
UGT3A2	167127	broad.mit.edu	37	chr5	36036029	36036029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgtgtggggctgagcGggtgggagcgcaggatgaca	6	6	21	8	3	0	2	0	2	0	0	0	4	0	4	1	5	2	3	1	5	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:36036029G>A	ENST00000282507.3	-	7	1444	c.1343C>T	c.(1342-1344)cCg>cTg	p.P448L	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P414L|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P146L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	448					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGGCTGAGCGGGTGGGAGCG	0.597																																						uc003jjz.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1342-1344)cCg>cTg		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.							27	29	28					5																	36036029		2202	4299	6501	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36036029G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1343C>T	5.37:g.36036029G>A	ENSP00000282507:p.Pro448Leu					UGT3A2_uc011cos.2_Missense_Mutation_p.P414L|UGT3A2_uc011cot.2_Missense_Mutation_p.P146L	p.P448L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1475	-	all_lung(31;0.000179)		448					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1343C>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199577	0.38806	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76060	-0.99;-0.99;-0.99	2.74	2.74	0.32292	.	0.000000	0.64402	U	0.000006	D	0.87700	0.6243	M	0.91717	3.235	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.97110	0.846;1.0	D	0.90507	0.4478	10	0.87932	D	0	.	13.2976	0.60307	0.0:0.0:1.0:0.0	.	414;448	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	448;414;146	ENSP00000282507:P448L;ENSP00000427404:P414L;ENSP00000445367:P146L	ENSP00000282507:P448L	P	-	2	0	UGT3A2	36071786	0.998000	0.40836	0.729000	0.30791	0.006000	0.05464	3.027000	0.49697	1.830000	0.53286	0.563000	0.77884	CCG		0.597	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		A	36036029	G	A	36036029	3	1	223	1	0	0	0	0	1	0	0	0	16961	1116	39	2	232	2	UGT3A2	5	36036029	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	33286214	36036029	144879231	24	15576											
HCN1	348980	broad.mit.edu	37	chr5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacccacggctccttctcGtatgatataatctccaggtt	8	15	6	12	2	2	1	0	1	2	0	5	1	3	1	3	2	1	3	3	2	4	7	rs35229491		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:45303809G>A	ENST00000303230.4	-	6	1567	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	504					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R504*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403																																						uc003jok.3																			1	Substitution - Nonsense(1)	p.R504*(2)	urinary_tract(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1510-1512)Cga>Tga		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							112	112	112					5																	45303809		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303809G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1510C>T	5.37:g.45303809G>A	ENSP00000307342:p.Arg504*						p.R504*	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1535	-			504						Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1510C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957446	0.97964	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.62	4.73	0.59995	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0052	0.80357	0.0:0.0:0.8643:0.1357	rs35229491	.	.	.	X	504	.	ENSP00000307342:R504X	R	-	1	2	HCN1	45339566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.734000	0.55037	1.467000	0.48044	0.655000	0.94253	CGA		0.403	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45303809	G	A	45303809	4	1	223	1	0	0	0	0	0	1	0	0	6996	1153	40	1	1174	1	HCN1	5	45303809	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9267780	45303809	135611451	25	15577											
P4HA2	8974	broad.mit.edu	37	chr5	131544873	131544873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggctctcgtaaacatcCctctcaggcaggtagtccac	10	8	9	14	1	2	1	1	0	2	1	6	1	4	1	2	3	1	4	2	3	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:131544873C>T	ENST00000401867.1	-	8	1429	c.861G>A	c.(859-861)agG>agA	p.R287R	P4HA2_ENST00000379104.2_Silent_p.R287R|P4HA2_ENST00000166534.4_Silent_p.R287R|P4HA2_ENST00000379086.1_Silent_p.R287R|P4HA2_ENST00000379100.2_Silent_p.R287R|P4HA2_ENST00000360568.3_Silent_p.R287R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	287					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R287R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGTAAACATCCCTCTCAGGCA	0.542																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.3																			1	Substitution - coding silent(1)	p.R287R(2)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(859-861)agG>agA		Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	L-Proline(DB00172)|Succinic acid(DB00139)						201	196	198					5																	131544873		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544873C>T	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.861G>A	5.37:g.131544873C>T						P4HA2_uc003kwg.3_Silent_p.R287R|P4HA2_uc003kwi.3_Silent_p.R287R|P4HA2_uc003kwk.3_Silent_p.R287R|P4HA2_uc003kwl.3_Silent_p.R287R|P4HA2_uc003kwj.3_Silent_p.R287R	p.R287R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1425	-		all_cancers(142;0.103)|Breast(839;0.198)	287					D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.861G>A	CCDS4151.1																																																																																				0.542	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		T	131544873	C	T	131544873	2	4	223	1	0	0	0	0	0	0	0	1	11357	622	22	3		3	P4HA2	5	131544873	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	86241064	131544873	49370387	26	15578											
PCDH12	51294	broad.mit.edu	37	chr5	141336339	141336339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttctgacaccagtgatgGctgggaggcccatgtgacgt	8	9	14	10	1	1	3	0	3	1	0	1	4	1	4	2	3	1	2	2	3	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:141336339G>C	ENST00000231484.3	-	1	2288	c.1078C>G	c.(1078-1080)Cca>Gca	p.P360A	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGATGGCTGGGAGGCC	0.507																																						uc003llx.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1078-1080)Cca>Gca		Homo sapiens protocadherin 12 (PCDH12), mRNA.							139	125	130					5																	141336339		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336339G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1078C>G	5.37:g.141336339G>C	ENSP00000231484:p.Pro360Ala						p.P360A	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2289	-		all_hematologic(541;0.0999)	360			Cadherin 4.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1078C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347185	0.01266	.	.	ENSG00000113555	ENST00000231484	T	0.58506	0.33	5.17	-0.136	0.13473	Cadherin (1);Cadherin-like (1);	0.894418	0.09853	N	0.747272	T	0.34250	0.0891	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18999	-1.0319	10	0.38643	T	0.18	.	0.8025	0.01077	0.2939:0.1542:0.3821:0.1699	.	360	Q9NPG4	PCD12_HUMAN	A	360	ENSP00000231484:P360A	ENSP00000231484:P360A	P	-	1	0	PCDH12	141316523	0.000000	0.05858	0.073000	0.20177	0.995000	0.86356	0.184000	0.16939	-0.218000	0.10018	0.655000	0.94253	CCA		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		C	141336339	G	C	141336339	3	2	223	1	0	0	0	0	1	0	0	0	11510	1203	42	5	2492	5	PCDH12	5	141336339	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9791466	141336339	39578921	27	15579											
PDE6A	5145	broad.mit.edu	37	chr5	149265912	149265912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaggcctctaggtccGtgaagtagcgcttcagcttt	7	11	12	11	2	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	4	4	rs547792004		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:149265912G>A	ENST00000255266.5	-	14	1873	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	585					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTCTAGGTCCGTGAAGTAGCG	0.532																																						uc003lrg.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(1753-1755)aCg>aTg		Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.							137	114	122					5																	149265912		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149265912G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1754C>T	5.37:g.149265912G>A	ENSP00000255266:p.Thr585Met					PDE6A_uc021yfs.1_Missense_Mutation_p.T504M	p.T585M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		13	1874	-			585					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1754C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833770	0.91036	.	.	ENSG00000132915	ENST00000255266	T	0.79845	-1.31	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91362	0.5112	10	0.87932	D	0	.	17.3904	0.87428	0.0:0.0:1.0:0.0	.	585	P16499	PDE6A_HUMAN	M	585	ENSP00000255266:T585M	ENSP00000255266:T585M	T	-	2	0	PDE6A	149246105	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	8.955000	0.93058	2.700000	0.92200	0.655000	0.94253	ACG		0.532	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149265912	G	A	149265912	3	1	223	1	0	0	0	0	1	0	0	0	11645	1145	40	1	864	1	PDE6A	5	149265912	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7929573	149265912	31649348	28	15580											
FAM71B	153745	broad.mit.edu	37	chr5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagactggcggcccccGccatcgaggtggaagtacct	8	5	16	12	3	0	1	0	0	0	1	1	5	0	3	4	5	1	1	4	5	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:156590194G>A	ENST00000302938.4	-	2	1177	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567																																						uc003lwn.3																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1081-1083)gCg>gTg		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.							33	36	35					5																	156590194		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590194G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1082C>T	5.37:g.156590194G>A	ENSP00000305596:p.Ala361Val						p.A361V	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1182	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	361					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1082C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.201	0.798141	0.16397	.	.	ENSG00000170613	ENST00000302938	T	0.04156	3.69	3.83	-0.0601	0.13790	.	2.284610	0.01796	N	0.032639	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.14023	0.01	T	0.32929	-0.9888	10	0.02654	T	1	0.1287	1.1705	0.01824	0.2063:0.1729:0.4431:0.1777	.	361	Q8TC56	FA71B_HUMAN	V	361	ENSP00000305596:A361V	ENSP00000305596:A361V	A	-	2	0	FAM71B	156522772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.879000	0.04188	-0.036000	0.13669	-0.224000	0.12420	GCG		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156590194	G	A	156590194	3	1	223	1	0	0	0	0	1	0	0	0	5608	1087	38	1	739	1	FAM71B	5	156590194	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7324282	156590194	24325066	29	15581											
GABRB2	2561	broad.mit.edu	37	chr5	160721114	160721114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataataaagccaatagaCgatgttgaagaaggaaaaaa	22	6	8	5	1	0	3	0	1	0	2	0	5	0	4	1	1	1	1	1	1	10	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:160721114C>T	ENST00000393959.1	-	10	1512	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	GABRB2_ENST00000520240.1_Missense_Mutation_p.V467I|GABRB2_ENST00000517547.1_Missense_Mutation_p.V307I|GABRB2_ENST00000274547.2_Missense_Mutation_p.V505I|GABRB2_ENST00000353437.6_Missense_Mutation_p.V467I|GABRB2_ENST00000517901.1_Missense_Mutation_p.V404I			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	505					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCCAATAGACGATGTTGAAG	0.453																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1513-1515)Gtc>Atc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						116	114	115					5																	160721114		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721114C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1513G>A	5.37:g.160721114C>T	ENSP00000377531:p.Val505Ile					GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I	p.V505I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1731	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	505					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1513G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343048	0.41498	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86164	-2.08;-2.08;-1.77;-1.77;-1.77;-1.77	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.166320	0.52532	D	0.000068	T	0.79707	0.4492	N	0.16743	0.435	0.80722	D	1	B;B;B;B	0.27765	0.007;0.003;0.188;0.005	B;B;B;B	0.27500	0.008;0.013;0.08;0.012	T	0.74328	-0.3701	10	0.19147	T	0.46	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	307;404;505;467	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	I	505;505;467;467;404;307	ENSP00000377531:V505I;ENSP00000274547:V505I;ENSP00000274546:V467I;ENSP00000429320:V467I;ENSP00000430532:V404I;ENSP00000429750:V307I	ENSP00000274547:V505I	V	-	1	0	GABRB2	160653692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.926000	0.56491	2.719000	0.93026	0.655000	0.94253	GTC		0.453	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			T	160721114	C	T	160721114	3	4	223	1	0	0	0	0	1	0	0	0	6167	536	19	1	29	1	GABRB2	5	160721114	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4130920	160721114	20194146	30	15582											
KIF13A	63971	broad.mit.edu	37	chr6	17779855	17779855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatactatttcataggttaCaccacaggaataaaatatat	17	12	6	6	0	1	0	1	0	0	0	1	2	1	2	1	3	2	1	1	3	9	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:17779855C>T	ENST00000259711.6	-	32	4012	c.3907G>A	c.(3907-3909)Gta>Ata	p.V1303I	KIF13A_ENST00000378816.5_Missense_Mutation_p.V1303I|KIF13A_ENST00000378843.2_Missense_Mutation_p.V1290I|KIF13A_ENST00000378814.5_Missense_Mutation_p.V1290I|KIF13A_ENST00000378826.2_Missense_Mutation_p.V1303I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1303					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCATAGGTTACACCACAGGAA	0.383																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3907-3909)Gta>Ata		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							38	41	40					6																	17779855		1811	4067	5878	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17779855C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3907G>A	6.37:g.17779855C>T	ENSP00000259711:p.Val1303Ile					KIF13A_uc003ncf.3_Missense_Mutation_p.V1290I|KIF13A_uc003nch.4_Missense_Mutation_p.V1303I|KIF13A_uc003nci.4_Missense_Mutation_p.V1290I|KIF13A_uc003nce.2_5'Flank	p.V1303I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	4067	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1303					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3907G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408081	0.83340	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.76709	-1.02;1.41;-1.04;-1.01;-1.02;-1.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.72353	2.195	0.80722	D	1	P;P;P;D	0.69078	0.924;0.955;0.772;0.997	P;P;P;D	0.80764	0.73;0.47;0.463;0.994	D	0.86396	0.1739	10	0.62326	D	0.03	.	19.7939	0.96471	0.0:1.0:0.0:0.0	.	1290;1303;1303;1290	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	1290;307;1303;1303;1290;1303	ENSP00000368091:V1290I;ENSP00000425616:V307I;ENSP00000259711:V1303I;ENSP00000368103:V1303I;ENSP00000368120:V1290I;ENSP00000368093:V1303I	ENSP00000259711:V1303I	V	-	1	0	KIF13A	17887834	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.294000	0.78760	2.668000	0.90789	0.563000	0.77884	GTA		0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17779855	C	T	17779855	3	4	223	1	0	0	0	0	1	0	0	0	8274	478	17	3	1567	3	KIF13A	6	17779855	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		17779855	153335212	31	15583											
DEF6	50619	broad.mit.edu	37	chr6	35280250	35280250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgcggggcgtgggcCgggacaccctcagcatggcc	4	5	17	15	3	1	0	1	0	0	0	1	1	1	1	4	5	3	2	4	5	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:35280250C>T	ENST00000316637.5	+	4	600	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	199						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGGCGTGGGCCGGGACACCCT	0.652																																						uc003okk.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(595-597)Cgg>Tgg		Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.							33	39	37					6																	35280250		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280250C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.595C>T	6.37:g.35280250C>T	ENSP00000319831:p.Arg199Trp					DEF6_uc010jvs.3_Missense_Mutation_p.R199W|DEF6_uc010jvt.3_Intron	p.R199W	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			3	634	+			199					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.595C>T	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.07|15.07	2.723599|2.723599	0.48728|0.48728	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000444278|ENST00000394658;ENST00000316637	.|T	.|0.22539	.|1.95	5.52|5.52	4.64|4.64	0.57946|0.57946	.|.	.|0.382752	.|0.29009	.|N	.|0.013436	T|T	0.14399|0.14399	0.0348|0.0348	L|L	0.38175|0.38175	1.15|1.15	0.24652|0.24652	N|N	0.99351|0.99351	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.49637	.|0.617;0.617	T|T	0.02190|0.02190	-1.1198|-1.1198	5|10	.|0.87932	.|D	.|0	-29.405|-29.405	15.9926|15.9926	0.80217|0.80217	0.1357:0.8643:0.0:0.0|0.1357:0.8643:0.0:0.0	.|.	.|199;199	.|B2RBP7;Q9H4E7	.|.;DEFI6_HUMAN	L|W	107|162;199	.|ENSP00000319831:R199W	.|ENSP00000319831:R199W	P|R	+|+	2|1	0|2	DEF6|DEF6	35388228|35388228	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.996000|0.996000	0.88848|0.88848	3.131000|3.131000	0.50515|0.50515	1.451000|1.451000	0.47736|0.47736	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.652	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		T	35280250	C	T	35280250	3	4	223	1	0	0	0	0	1	0	0	0	4386	643	23	2	609	2	DEF6	6	35280250	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	17500395	35280250	135834817	32	15584											
MOCS1	4337	broad.mit.edu	37	chr6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttcctgcccacagcagCcccaatgattctcagcagct	8	10	6	17	0	2	1	1	1	2	0	4	1	3	1	4	0	5	3	4	0	1	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:39877612C>T	ENST00000340692.5	-	9	1072	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_ENST00000373186.4_Missense_Mutation_p.A357T|MOCS1_ENST00000373195.3_Missense_Mutation_p.A270T|MOCS1_ENST00000308559.7_Missense_Mutation_p.A357T|MOCS1_ENST00000425303.2_Missense_Mutation_p.A357T|MOCS1_ENST00000373175.4_Missense_Mutation_p.A328T|MOCS1_ENST00000432280.2_Missense_Mutation_p.A328T|MOCS1_ENST00000373188.2_Missense_Mutation_p.A357T			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCACAGCAGCCCCAATGATT	0.622																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.3																			0		p.A357V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1069-1071)Gct>Act		Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.							114	102	106					6																	39877612		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877612C>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1069G>A	6.37:g.39877612C>T	ENSP00000344794:p.Ala357Thr					MOCS1_uc003opa.3_Missense_Mutation_p.A357T|MOCS1_uc003opd.3_Missense_Mutation_p.A357T|MOCS1_uc003ope.3_Missense_Mutation_p.A270T	p.A357T	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN			7	1207	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		357			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1069G>A		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908114	0.52333	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	4.98	4.98	0.66077	Molybdenum cofactor synthesis C-terminal (1);	0.109365	0.64402	D	0.000010	D	0.88070	0.6338	M	0.73217	2.22	0.51767	D	0.999936	P;P;P;P;P	0.42337	0.735;0.609;0.776;0.735;0.454	B;B;P;B;B	0.45794	0.36;0.287;0.493;0.36;0.287	D	0.88004	0.2758	9	.	.	.	-7.0908	17.8476	0.88734	0.0:1.0:0.0:0.0	.	357;357;357;357;357	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	T	357;357;328;357;270;357;357;328	ENSP00000362282:A357T;ENSP00000309843:A357T;ENSP00000362270:A328T;ENSP00000362284:A357T;ENSP00000362291:A270T;ENSP00000344794:A357T;ENSP00000416478:A357T;ENSP00000410809:A328T	.	A	-	1	0	MOCS1	39985590	1.000000	0.71417	0.808000	0.32385	0.141000	0.21300	4.784000	0.62411	2.290000	0.77057	0.557000	0.71058	GCT		0.622	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		T	39877612	C	T	39877612	3	4	223	1	0	0	0	0	1	0	0	0	9690	739	26	3	96	3	MOCS1	6	39877612	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4597362	39877612	131237455	33	15585											
KIAA1244	57221	broad.mit.edu	37	chr6	138531138	138531138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgccgtgaaagtgaCgccttcgctcaacgaggacc	11	7	11	12	4	1	3	1	3	0	0	2	5	1	4	3	1	2	1	3	1	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:138531138C>T	ENST00000251691.4	+	4	477	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGAAAGTGACGCCTTCGCTC	0.502																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(310-312)aCg>aTg		Homo sapiens KIAA1244 (KIAA1244), mRNA.							174	137	149					6																	138531138		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138531138C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.311C>T	6.37:g.138531138C>T	ENSP00000251691:p.Thr104Met						p.T104M	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	3	482	+	Breast(32;0.135)		104						Missense_Mutation	SNP	ENST00000251691.4	37	c.311C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385486	0.82792	.	.	ENSG00000112379	ENST00000251691	T	0.05025	3.51	5.71	5.71	0.89125	.	0.053410	0.85682	D	0.000000	T	0.13415	0.0325	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03493	-1.1031	10	0.40728	T	0.16	-26.3481	19.8533	0.96747	0.0:1.0:0.0:0.0	.	104	Q5TH69	BIG3_HUMAN	M	104	ENSP00000251691:T104M	ENSP00000251691:T104M	T	+	2	0	KIAA1244	138572831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.193000	0.77780	2.695000	0.91970	0.555000	0.69702	ACG		0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138531138	C	T	138531138	3	4	223	1	0	0	0	0	1	0	0	0	8217	536	19	1	325	1	KIAA1244	6	138531138	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	98653526	138531138	32583929	34	15586											
IGF2R	3482	broad.mit.edu	37	chr6	160501272	160501272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtagcacaactgcggactAcgacagagaccacgagtggg	12	5	14	10	3	0	1	0	0	0	1	0	5	0	2	1	2	4	2	1	2	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:160501272A>G	ENST00000356956.1	+	39	5946	c.5798A>G	c.(5797-5799)tAc>tGc	p.Y1933C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1933	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACTGCGGACTACGACAGAGAC	0.577																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5797-5799)tAc>tGc		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							107	96	99					6																	160501272		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501272A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5798A>G	6.37:g.160501272A>G	ENSP00000349437:p.Tyr1933Cys						p.Y1933C	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	38	5946	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1933			Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5798A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135281	0.56828	.	.	ENSG00000197081	ENST00000356956	T	0.57752	0.38	5.63	5.63	0.86233	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.83820	0.0246	10	0.87932	D	0	-10.4177	10.5917	0.45314	0.8567:0.0:0.0:0.1432	.	1933	P11717	MPRI_HUMAN	C	1933	ENSP00000349437:Y1933C	ENSP00000349437:Y1933C	Y	+	2	0	IGF2R	160421262	1.000000	0.71417	0.976000	0.42696	0.347000	0.29111	4.659000	0.61504	2.271000	0.75665	0.459000	0.35465	TAC		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160501272	A	G	160501272	3	3	223	1	0	0	0	0	1	0	0	0	7576	391	14	4	5952	4	IGF2R	6	160501272	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	21970134	160501272	10613795	35	15587											
SCIN	85477	broad.mit.edu	37	chr7	12683930	12683930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaaggatccaagaaggCgaggagccaggtgtgtgctc	11	7	14	9	1	0	1	0	0	0	1	2	4	1	3	3	4	2	1	3	4	3	1	rs369378047		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:12683930C>T	ENST00000297029.5	+	12	1850	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	SCIN_ENST00000445618.2_Silent_p.G336G|SCIN_ENST00000519209.1_Silent_p.G336G	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	583	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCAAGAAGGCGAGGAGCCAG	0.448																																						uc003ssn.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1747-1749)ggC>ggT		Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.		C	,	1,4007		0,1,2003	35	40	38		1749,1008	3.3	0.8	7		38	0,8336		0,0,4168	no	coding-synonymous,coding-synonymous	SCIN	NM_001112706.2,NM_033128.3	,	0,1,6171	TT,TC,CC		0.0,0.025,0.0081	,	583/716,336/469	12683930	1,12343	2004	4168	6172	SO:0001819	synonymous_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12683930C>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1749C>T	7.37:g.12683930C>T						SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Silent_p.G336G	p.G583G	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	11	1959	+			583			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	37	c.1749C>T	CCDS47545.1																																																																																				0.448	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		T	12683930	C	T	12683930	2	4	223	1	0	0	0	0	0	0	0	1	13905	755	27	1		1	SCIN	7	12683930	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08		12683930	146454733	36	15588											
IKZF1	10320	broad.mit.edu	37	chr7	50467929	50467929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcggagcgcgaggcGtccccgagcaacagctgcca	7	4	14	16	5	0	0	0	0	0	0	2	3	1	1	4	2	6	2	4	2	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:50467929G>A	ENST00000331340.3	+	8	1319	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	IKZF1_ENST00000349824.4_Silent_p.A245A|IKZF1_ENST00000359197.5_Silent_p.A346A|IKZF1_ENST00000439701.1_Silent_p.A346A|IKZF1_ENST00000346667.4_Silent_p.A158A|IKZF1_ENST00000343574.5_Silent_p.A301A|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.A301A|IKZF1_ENST00000357364.4_Silent_p.A301A	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	388					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGCGCGAGGCGTCCCCGAGCA	0.672			"D,T"	BCL6	"ALL, DLBCL"																																	uc003tow.4				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1162-1164)gcG>gcA		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							20	26	24					7																	50467929		2132	4226	6358	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467929G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1164G>A	7.37:g.50467929G>A						IKZF1_uc022acq.1_Silent_p.A245A|IKZF1_uc003tpa.4_Silent_p.A153A|IKZF1_uc022acr.1_Silent_p.A163A|IKZF1_uc022acs.1_Silent_p.A118A|IKZF1_uc022act.1_Silent_p.A291A|IKZF1_uc022acu.1_Silent_p.A301A|IKZF1_uc003tox.4_Silent_p.A346A|IKZF1_uc022acv.1_Silent_p.A249A|IKZF1_uc022acw.1_Silent_p.A259A|IKZF1_uc022acx.1_Silent_p.A301A|IKZF1_uc022acy.1_Silent_p.A195A|IKZF1_uc022acz.1_Silent_p.A205A|IKZF1_uc011kck.2_Silent_p.A301A|IKZF1_uc003toy.4_Silent_p.A346A|IKZF1_uc003toz.4_Silent_p.A358A|IKZF1_uc010kyx.3_Silent_p.A128A	p.A388A	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1319	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	388					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1164G>A																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		A	50467929	G	A	50467929	2	1	223	1	0	0	0	0	0	0	0	1	7614	1132	40	1		1	IKZF1	7	50467929	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	37783999	50467929	108670734	37	15589											
EGFR	1956	broad.mit.edu	37	chr7	55221765	55221765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccccccactcatgctctAcaaccccaccacgtaccaga	10	6	4	21	1	2	1	1	0	1	1	2	1	2	1	7	0	5	2	7	0	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:55221765A>G	ENST00000275493.2	+	7	986	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y217C|EGFR_ENST00000344576.2_Missense_Mutation_p.Y270C|EGFR_ENST00000442591.1_Missense_Mutation_p.Y270C|EGFR_ENST00000420316.2_Missense_Mutation_p.Y270C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y225C|EGFR_ENST00000342916.3_Missense_Mutation_p.Y270C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	270			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTCATGCTCTACAACCCCACC	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(808-810)tAc>tGc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						210	165	180					7																	55221765		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221765A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.809A>G	7.37:g.55221765A>G	ENSP00000275493:p.Tyr270Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.Y270C|EGFR_uc003tqi.3_Missense_Mutation_p.Y270C|EGFR_uc003tqj.3_Missense_Mutation_p.Y270C|EGFR_uc022adm.1_Missense_Mutation_p.Y270C|EGFR_uc010kzg.2_Missense_Mutation_p.Y225C|EGFR_uc022adn.1_Missense_Mutation_p.Y225C|EGFR_uc011kco.2_Missense_Mutation_p.Y217C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.Y270C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1055	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		270					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.809A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661131	0.88154	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.87710	0.2566	10	0.87932	D	0	.	15.2191	0.73296	1.0:0.0:0.0:0.0	.	225;270;270;270;270	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	225;270;140;270;270;270;270;217;64	ENSP00000415559:Y225C;ENSP00000342376:Y270C;ENSP00000345973:Y270C;ENSP00000413843:Y270C;ENSP00000275493:Y270C;ENSP00000410031:Y270C;ENSP00000395243:Y217C	ENSP00000275493:Y270C	Y	+	2	0	EGFR	55189259	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.311000	0.96282	2.272000	0.75746	0.460000	0.39030	TAC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55221765	A	G	55221765	3	3	223	1	0	0	0	0	1	0	0	0	4967	391	14	4	835	4	EGFR	7	55221765	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	4753836	55221765	103916898	38	15590											
AZGP1	563	broad.mit.edu	37	chr7	99565820	99565820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtatttcaggtatttccGcagagtcgcagggcactcct	7	12	11	11	2	1	1	1	0	0	1	4	1	3	1	2	2	0	6	2	2	2	4	rs370476332		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:99565820G>A	ENST00000292401.4	-	3	707	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Missense_Mutation_p.R188W	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	191					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGTATTTCCGCAGAGTCGCA	0.552																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(571-573)Cgg>Tgg		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	97	94	95		571	2.8	0.1	7		95	0,8600		0,0,4300	no	missense	AZGP1	NM_001185.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/299	99565820	1,13005	2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565820G>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.571C>T	7.37:g.99565820G>A	ENSP00000292401:p.Arg191Trp						p.R191W	NM_001185	NP_001176	P25311	ZA2G_HUMAN			2	663	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		191					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.571C>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698671	0.68501	2.27E-4	0.0	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.90676	-2.71;-2.71	2.76	2.76	0.32466	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.818283	0.09642	U	0.774805	D	0.94341	0.8181	M	0.84219	2.685	0.29106	N	0.881141	D	0.89917	1.0	D	0.64877	0.93	D	0.86356	0.1714	10	0.87932	D	0	.	7.5052	0.27540	0.0:0.0:0.7429:0.2571	.	191	P25311	ZA2G_HUMAN	W	191;188	ENSP00000292401:R191W;ENSP00000396093:R188W	ENSP00000292401:R191W	R	-	1	2	AZGP1	99403756	0.461000	0.25783	0.056000	0.19401	0.678000	0.39670	0.887000	0.28254	1.464000	0.47987	0.313000	0.20887	CGG		0.552	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		A	99565820	G	A	99565820	3	1	223	1	0	0	0	0	1	0	0	0	1239	1086	38	1	333	1	AZGP1	7	99565820	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	44344055	99565820	59572843	39	15591											
OR6V1	346517	broad.mit.edu	37	chr7	142749461	142749461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatctgagccagccctcCgaatttgtcctcttgggctt	7	12	9	13	1	2	1	0	1	2	0	4	2	4	1	4	1	2	2	4	1	2	3	rs369508746		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:142749461C>T	ENST00000418316.1	+	1	45	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S8S(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCAGCCCTCCGAATTTGTCC	0.517																																						uc011ksv.2																			2	Substitution - coding silent(2)	p.S8S(3)	lung(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(22-24)tcC>tcT		Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.		C		1,3847		0,1,1923	150	145	146		24	-6.9	0	7		146	0,8222		0,0,4111	no	coding-synonymous	OR6V1	NM_001001667.1		0,1,6034	TT,TC,CC		0.0,0.026,0.0083		8/314	142749461	1,12069	1924	4111	6035	SO:0001819	synonymous_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749461C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.24C>T	7.37:g.142749461C>T							p.S8S	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			0	24	+	Melanoma(164;0.059)		8					A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	c.24C>T	CCDS47728.1																																																																																				0.517	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			T	142749461	C	T	142749461	2	4	223	1	0	0	0	0	0	0	0	1	11211	639	23	2		2	OR6V1	7	142749461	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	43183641	142749461	16389202	40	15592											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259237	147259237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgttctagctatctaCgagccttcctgtgaagccta	7	16	8	10	1	2	1	0	1	2	0	3	2	3	1	3	0	4	3	3	0	5	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:147259237C>T	ENST00000361727.3	+	12	2301	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	595	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGCTATCTACGAGCCTTCCT	0.448										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1783-1785)taC>taT		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							109	102	104					7																	147259237		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259237C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1785C>T	7.37:g.147259237C>T		HNSCC(39;0.1)					p.Y595Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2301	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	595			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1785C>T	CCDS5889.1																																																																																				0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147259237	C	T	147259237	2	4	223	1	0	0	0	0	0	0	0	1	3647	547	19	1		1	CNTNAP2	7	147259237	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	4509776	147259237	11879426	41	15593											
SSPO	23145	broad.mit.edu	37	chr7	149489760	149489760	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccttccggagctccaacaAcccccgcccctccggccgag	6	5	9	21	4	0	0	0	0	0	0	4	2	4	1	9	2	3	1	9	2	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:149489760A>C	ENST00000378016.2	+	0	5816							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCCAACAACCCCCGCCCC	0.692																																						uc010lpk.3																			0											c.(5806-5808)aAc>aCc		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							23	31	29					7																	149489760		1994	4158	6152			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489760A>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489760A>C							p.N1936T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		37	5807	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1939			TSP type-1 3.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.5807A>C																																																																																					0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149489760	A	C	149489760	1	2	223	0	1	0	0	0	0	0	0	0	15188	43	2	5		5	SSPO	7	149489760	RNA	SNP	A	TCGA-32-1979-01A-01D-1696-08	2230523	149489760	9648903	42	15594											
PRKDC	5591	broad.mit.edu	37	chr8	48805878	48805878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagccacccccctcaaagGtgttgatgagaaaagagaca	15	5	9	12	0	1	3	1	2	0	2	1	5	1	3	4	1	1	1	4	1	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:48805878G>A	ENST00000314191.2	-	31	3724	c.3668C>T	c.(3667-3669)aCc>aTc	p.T1223I	PRKDC_ENST00000338368.3_Missense_Mutation_p.T1223I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1223					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCCCTCAAAGGTGTTGATGAG	0.522								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(3667-3669)aCc>aTc	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							36	37	36					8																	48805878		1863	4096	5959	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48805878G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3668C>T	8.37:g.48805878G>A	ENSP00000313420:p.Thr1223Ile					PRKDC_uc003xqj.3_Missense_Mutation_p.T1223I	p.T1223I	NM_006904	NP_008835	P78527	PRKDC_HUMAN			30	3725	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1223					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3668C>T		.	.	.	.	.	.	.	.	.	.	G	0.458	-0.890675	0.02491	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64260	-0.09;-0.09	5.82	2.86	0.33363	.	0.768004	0.12423	N	0.470231	T	0.41305	0.1153	.	.	.	0.09310	N	1	B;B	0.20550	0.046;0.0	B;B	0.13407	0.009;0.001	T	0.23261	-1.0193	9	0.28530	T	0.3	.	2.7788	0.05355	0.086:0.3051:0.2957:0.3132	.	1223;1223	E7EUY0;P78527	.;PRKDC_HUMAN	I	1223	ENSP00000313420:T1223I;ENSP00000345182:T1223I	ENSP00000313420:T1223I	T	-	2	0	PRKDC	48968431	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.258000	0.18387	0.328000	0.23435	-0.224000	0.12420	ACC		0.522	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		A	48805878	G	A	48805878	3	1	223	1	0	0	0	0	1	0	0	0	12521	1261	44	3	8941	3	PRKDC	8	48805878	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		48805878	97558144	43	15595											
PENK	5179	broad.mit.edu	37	chr8	57353950	57353950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaaacctccataccGtttctggtagtccatccacc	9	11	6	15	1	2	0	1	0	1	0	5	1	5	1	6	2	2	2	6	2	3	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:57353950G>A	ENST00000314922.3	-	2	761	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	PENK_ENST00000451791.2_Missense_Mutation_p.R229W|PENK_ENST00000523274.1_Intron	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	229					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R229W(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCATACCGTTTCTGGTAG	0.517																																						uc003xsz.2																			1	Substitution - Missense(1)	p.R229W(2)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(685-687)Cgg>Tgg		Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.							92	95	94					8																	57353950		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353950G>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.685C>T	8.37:g.57353950G>A	ENSP00000324248:p.Arg229Trp					PENK_uc003xta.3_Missense_Mutation_p.R229W	p.R229W	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		1	766	-		all_lung(136;0.229)	229					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.685C>T	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516790	0.64634	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.20881	2.04;2.04	5.91	-3.17	0.05202	.	0.088300	0.64402	D	0.000001	T	0.51278	0.1665	M	0.87038	2.855	0.43250	D	0.99517	D	0.89917	1.0	D	0.83275	0.996	T	0.69079	-0.5240	10	0.87932	D	0	-33.9081	22.2386	0.99968	0.0:0.0:0.8307:0.1693	.	229	P01210	PENK_HUMAN	W	229	ENSP00000324248:R229W;ENSP00000400894:R229W	ENSP00000324248:R229W	R	-	1	2	PENK	57516504	0.056000	0.20664	0.100000	0.21137	0.980000	0.70556	0.304000	0.19228	-0.396000	0.07703	-0.262000	0.10625	CGG		0.517	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			A	57353950	G	A	57353950	3	1	223	1	0	0	0	0	1	0	0	0	11727	1144	40	1	122	1	PENK	8	57353950	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	8548072	57353950	89010072	44	15596											
OXR1	55074	broad.mit.edu	37	chr8	107722899	107722899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgattacataagttcttGtgtctcagagttggaaaacc	12	13	8	8	1	2	1	1	0	2	1	4	3	2	2	1	1	2	2	1	1	4	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:107722899G>T	ENST00000442977.2	+	9	1776	c.1677G>T	c.(1675-1677)ttG>ttT	p.L559F	OXR1_ENST00000517566.2_Missense_Mutation_p.L558F|OXR1_ENST00000312046.6_Missense_Mutation_p.L551F|OXR1_ENST00000445937.1_Missense_Mutation_p.L558F|OXR1_ENST00000531443.1_Missense_Mutation_p.L558F|OXR1_ENST00000452423.2_Missense_Mutation_p.L48F	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	559	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATAAGTTCTTGTGTCTCAGAG	0.358																																						uc011lht.2																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1675-1677)ttG>ttT		Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.							113	107	109					8																	107722899		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722899G>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1677G>T	8.37:g.107722899G>T	ENSP00000405424:p.Leu559Phe					OXR1_uc022azp.1_Missense_Mutation_p.L558F|OXR1_uc003ymf.3_Missense_Mutation_p.L558F|OXR1_uc011lhu.2_Missense_Mutation_p.L551F|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.L256F	p.L559F	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1776	+			559					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1677G>T	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020582|3.020582	0.54576|0.54576	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	.|T;T;T;T;T;T	.|0.38401	.|1.24;1.24;1.23;1.14;1.23;1.26	5.73|5.73	1.92|1.92	0.25849|0.25849	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.50956|0.50956	0.1646|0.1646	M|M	0.72894|0.72894	2.215|2.215	0.38126|0.38126	D|D	0.938009|0.938009	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	T|T	0.51340|0.51340	-0.8718|-0.8718	5|10	.|0.52906	.|T	.|0.07	-21.7478|-21.7478	4.7365|4.7365	0.12991|0.12991	0.3785:0.1867:0.4349:0.0|0.3785:0.1867:0.4349:0.0	.|.	.|551;559;558;558	.|Q8N573-2;Q8N573;D3HIS6;Q8N573-5	.|.;OXR1_HUMAN;.;.	F|F	272|558;558;558;48;559;551	.|ENSP00000402918:L558F;ENSP00000431966:L558F;ENSP00000429205:L558F;ENSP00000395032:L48F;ENSP00000405424:L559F;ENSP00000311026:L551F	.|ENSP00000311026:L551F	C|L	+|+	2|3	0|2	OXR1|OXR1	107792075|107792075	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.527000|0.527000	0.34593|0.34593	0.918000|0.918000	0.28678|0.28678	0.449000|0.449000	0.26747|0.26747	0.563000|0.563000	0.77884|0.77884	TGT|TTG		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		T	107722899	G	T	107722899	3	4	223	1	0	0	0	0	1	0	0	0	11334	1368	48	5	1911	5	OXR1	8	107722899	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	50368949	107722899	38641123	45	15597											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488106	134488106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgcaaggcctgtgcttGatcagtctcttcaggttctc	6	13	11	11	0	4	1	2	1	2	0	6	1	4	1	1	3	2	3	1	3	1	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:134488106G>C	ENST00000319914.5	-	4	1189	c.162C>G	c.(160-162)atC>atG	p.I54M	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.I54M|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.I54M|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.I54M|ST3GAL1_ENST00000519435.1_5'Flank			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	54					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCCTGTGCTTGATCAGTCTCT	0.597																																						uc003yuk.2																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(160-162)atC>atG		Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.							102	78	86					8																	134488106		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488106G>C	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.162C>G	8.37:g.134488106G>C	ENSP00000318445:p.Ile54Met					ST3GAL1_uc003yum.2_Missense_Mutation_p.I54M	p.I54M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	991	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		54					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.162C>G	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.256416	0.01457	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.55	3.78	0.43462	.	0.719673	0.14230	N	0.332840	T	0.07188	0.0182	N	0.02315	-0.6	0.09310	N	0.999997	B	0.02656	0.0	B	0.08055	0.003	T	0.33904	-0.9850	10	0.33940	T	0.23	-14.3605	9.6429	0.39850	0.0:0.4604:0.4466:0.093	.	54	Q11201	SIA4A_HUMAN	M	54	ENSP00000318445:I54M;ENSP00000414073:I54M;ENSP00000428540:I54M;ENSP00000430515:I54M	ENSP00000318445:I54M	I	-	3	3	ST3GAL1	134557288	0.999000	0.42202	0.010000	0.14722	0.035000	0.12851	1.493000	0.35605	0.742000	0.32697	0.561000	0.74099	ATC		0.597	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		C	134488106	G	C	134488106	3	2	223	1	0	0	0	0	1	0	0	0	15213	1280	45	5	884	5	ST3GAL1	8	134488106	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	26765207	134488106	11875916	46	15598											
BNC2	54796	broad.mit.edu	37	chr9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgcactgtggcgattaCgacttcggagggagctaaag	9	10	15	7	3	0	0	0	0	0	0	1	4	0	2	0	4	3	3	0	4	3	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000545497.1_Missense_Mutation_p.R391H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1456-1458)cGt>cAt		Homo sapiens basonuclin 2 (BNC2), mRNA.							143	133	137					9																	16436735		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436735C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1457G>A	9.37:g.16436735C>T	ENSP00000370047:p.Arg486His					BNC2_uc011lmw.2_Missense_Mutation_p.R391H|BNC2_uc003zmm.3_Missense_Mutation_p.R444H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc011lmv.2_Missense_Mutation_p.R312H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc003zmj.3_Missense_Mutation_p.R251H|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R251H|BNC2_uc003zmn.1_Missense_Mutation_p.R251H	p.R486H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	1597	-			486						Missense_Mutation	SNP	ENST00000380672.4	37	c.1457G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	BNC2	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16436735	C	T	16436735	3	4	223	1	0	0	0	0	1	0	0	0	1475	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		16436735	124776696	47	15599											
C9orf64	84267	broad.mit.edu	37	chr9	86559803	86559803	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatcagcaaacatggtgatActggagatgtccttgaagca	14	10	10	7	0	1	3	1	2	0	1	2	4	2	3	1	2	4	2	1	2	4	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:86559803A>T	ENST00000376344.3	-	3	915	c.699T>A	c.(697-699)agT>agA	p.S233R	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92R	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACATGGTGATACTGGAGATGT	0.428																																						uc004anb.3																			0		p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(697-699)agT>agA		Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.							128	109	115					9																	86559803		2203	4300	6503	SO:0001583	missense	84267							g.chr9:86559803A>T	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.699T>A	9.37:g.86559803A>T	ENSP00000365522:p.Ser233Arg					C9orf64_uc004anc.3_Missense_Mutation_p.S92R	p.S233R	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			2	947	-			233					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.699T>A	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690705	0.48097	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	4.97	-6.72	0.01755	.	0.408324	0.29239	N	0.012724	T	0.36138	0.0956	L	0.39514	1.22	0.58432	D	0.999996	B	0.13145	0.007	B	0.12156	0.007	T	0.02220	-1.1193	9	0.25106	T	0.35	-6.0466	7.5933	0.28033	0.3955:0.0:0.4219:0.1826	.	233	Q5T6V5	CI064_HUMAN	R	233;92	.	ENSP00000318375:S92R	S	-	3	2	C9orf64	85749623	0.980000	0.34600	0.970000	0.41538	0.989000	0.77384	0.216000	0.17585	-0.823000	0.04301	-0.290000	0.09829	AGT		0.428	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		T	86559803	A	T	86559803	3	4	223	1	0	0	0	0	1	0	0	0	2489	388	14	5	334	5	C9orf64	9	86559803	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	70123068	86559803	54653628	48	15600											
HDHD3	81932	broad.mit.edu	37	chr9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcatcctggacacccGccaggtggaaggtctgcagg	8	6	14	13	1	1	1	0	1	1	0	2	3	2	3	4	5	2	2	4	5	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:116136378G>A	ENST00000238379.5	-	2	1154	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_ENST00000374180.3_Missense_Mutation_p.A86V|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	86						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617																																						uc022bme.1																			0				large_intestine(2)|liver(1)	3						c.(256-258)gCg>gTg		Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.							51	53	53					9																	116136378		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136378G>A	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.257C>T	9.37:g.116136378G>A	ENSP00000238379:p.Ala86Val					HDHD3_uc004bhi.1_Missense_Mutation_p.A86V|HDHD3_uc004bhk.3_Missense_Mutation_p.A86V	p.A86V	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN			0	257	-			86					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.257C>T	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340042	0.81911	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.05382	3.45;3.45	5.76	5.76	0.90799	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.218152	0.47455	D	0.000228	T	0.11324	0.0276	L	0.31752	0.955	0.40966	D	0.984663	D	0.76494	0.999	P	0.54965	0.765	T	0.35051	-0.9804	10	0.12766	T	0.61	-7.802	18.9453	0.92620	0.0:0.0:1.0:0.0	.	86	Q9BSH5	HDHD3_HUMAN	V	86	ENSP00000238379:A86V;ENSP00000363295:A86V	ENSP00000238379:A86V	A	-	2	0	HDHD3	115176199	0.999000	0.42202	0.921000	0.36526	0.640000	0.38277	5.977000	0.70492	2.721000	0.93114	0.655000	0.94253	GCG		0.617	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		A	116136378	G	A	116136378	3	1	223	1	0	0	0	0	1	0	0	0	7024	1087	38	1	502	1	HDHD3	9	116136378	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	29576575	116136378	25077053	49	15601											
FAM129B	64855	broad.mit.edu	37	chr9	130272452	130272452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtcaatgccgccctcGttgatgacgttcaggttcat	7	13	10	11	3	3	2	3	2	0	0	4	2	3	2	2	1	2	4	2	1	1	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:130272452G>A	ENST00000373312.3	-	9	1347	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.N365N	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	378					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCGCCCTCGTTGATGACGT	0.637																																						uc004brh.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1132-1134)aaC>aaT		Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.							135	124	128					9																	130272452		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130272452G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1134C>T	9.37:g.130272452G>A						FAM129B_uc004bri.3_Silent_p.N365N|FAM129B_uc004brj.4_Silent_p.N378N	p.N378N	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			8	1336	-			378					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1134C>T	CCDS35145.1																																																																																				0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		A	130272452	G	A	130272452	2	1	223	1	0	0	0	0	0	0	0	1	5437	1136	40	1		1	FAM129B	9	130272452	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	14136074	130272452	10940979	50	15602											
C9orf167	54863	broad.mit.edu	37	chr9	140173549	140173549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcttccaagttctcaaCgctatcgagaacctggacga	10	9	11	11	3	1	1	1	0	1	1	4	4	2	2	2	2	2	3	2	2	4	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:140173549C>T	ENST00000357503.2	+	2	604	c.408C>T	c.(406-408)aaC>aaT	p.N136N		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	136					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										AAGTTCTCAACGCTATCGAGA	0.662																																						uc022bqh.1																			0											c.(406-408)aaC>aaT		Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.							20	17	18					9																	140173549		2202	4297	6499	SO:0001819	synonymous_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173549C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.408C>T	9.37:g.140173549C>T						TOR4A_uc004cmn.3_Silent_p.N136N	p.N136N	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN			0	408	+			136					A2BFA4	Silent	SNP	ENST00000357503.2	37	c.408C>T	CCDS7041.1																																																																																				0.662	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		T	140173549	C	T	140173549	2	4	223	1	0	0	0	0	0	0	0	1	2468	535	19	1		1	C9orf167	9	140173549	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	9901097	140173549	1039882	51	15603											
RET	5979	broad.mit.edu	37	chr10	43606701	43606701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggcattcagtggcatcaAcgtccagtacaagctgcatt	11	9	9	12	1	2	0	2	0	0	0	3	0	3	0	2	2	4	5	2	2	3	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:43606701A>T	ENST00000355710.3	+	7	1542	c.1310A>T	c.(1309-1311)aAc>aTc	p.N437I	RET_ENST00000340058.5_Missense_Mutation_p.N437I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	437					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTGGCATCAACGTCCAGTAC	0.582		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0		p.N437N(1)		NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1309-1311)aAc>aTc		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						132	116	122					10																	43606701		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606701A>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1310A>T	10.37:g.43606701A>T	ENSP00000347942:p.Asn437Ile					RET_uc001jak.1_Missense_Mutation_p.N437I|RET_uc010qez.1_Missense_Mutation_p.N183I	p.N437I	NM_020975	NP_066124	P07949	RET_HUMAN			6	1500	+		Ovarian(717;0.0423)	437					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1310A>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	7.178	0.588926	0.13812	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.79141	-1.12;-1.24	5.61	0.489	0.16854	.	0.955495	0.08855	N	0.883847	T	0.63498	0.2516	L	0.38175	1.15	0.09310	N	1	B;B;B	0.29646	0.043;0.164;0.253	B;B;B	0.23018	0.019;0.019;0.043	T	0.52411	-0.8579	10	0.59425	D	0.04	.	3.672	0.08277	0.5591:0.2492:0.0679:0.1238	.	183;437;437	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	437	ENSP00000347942:N437I;ENSP00000344798:N437I	ENSP00000344798:N437I	N	+	2	0	RET	42926707	0.462000	0.25791	0.000000	0.03702	0.001000	0.01503	1.850000	0.39328	-0.154000	0.11118	-0.379000	0.06801	AAC		0.582	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43606701	A	T	43606701	3	4	223	1	0	0	0	0	1	0	0	0	13235	43	2	5	1336	5	RET	10	43606701	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08		43606701	91928046	52	15604											
DNMBP	23268	broad.mit.edu	37	chr10	101716663	101716663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaaaaatgcctcttcGgccctctaactccccttcaa	9	12	5	15	1	4	0	1	0	3	0	6	1	5	1	4	2	2	0	4	2	4	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:101716663G>A	ENST00000324109.4	-	4	659	c.568C>T	c.(568-570)Cga>Tga	p.R190*	DNMBP_ENST00000342239.3_Nonsense_Mutation_p.R190*|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	190	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGCCTCTTCGGCCCTCTAAC	0.488																																						uc001kqj.2																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(568-570)Cga>Tga		Homo sapiens dynamin binding protein (DNMBP), mRNA.							85	84	84					10																	101716663		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716663G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.568C>T	10.37:g.101716663G>A	ENSP00000315659:p.Arg190*					DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	p.R190*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	3	660	-		Colorectal(252;0.234)	190			SH3 3.		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.568C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038476	0.93630	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	4.94	4.94	0.65067	.	0.345520	0.21319	N	0.076519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3516	14.0363	0.64646	0.0748:0.0:0.9252:0.0	.	.	.	.	X	190	.	ENSP00000315659:R190X	R	-	1	2	DNMBP	101706653	0.954000	0.32549	1.000000	0.80357	0.998000	0.95712	3.828000	0.55753	2.724000	0.93272	0.561000	0.74099	CGA		0.488	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		A	101716663	G	A	101716663	4	1	223	1	0	0	0	0	0	1	0	0	4674	1124	39	2	4221	2	DNMBP	10	101716663	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	58109962	101716663	33818084	53	15605											
ATHL1	80162	broad.mit.edu	37	chr11	294169	294169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggggcttcctgcaggCggtggtcttcgggtgcacgg	3	9	19	10	3	1	0	0	0	1	0	3	0	2	0	1	8	2	3	1	8	0	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:294169C>T	ENST00000409548.2	+	12	1896	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	ATHL1_ENST00000409655.1_Missense_Mutation_p.A346V|ATHL1_ENST00000409479.1_Missense_Mutation_p.A621V	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	594					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCCTGCAGGCGGTGGTCTTC	0.652																																						uc010qvu.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(1780-1782)gCg>gTg		Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.							83	82	82					11																	294169		2202	4300	6502	SO:0001583	missense	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:294169C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1781C>T	11.37:g.294169C>T	ENSP00000387185:p.Ala594Val					ATHL1_uc001lor.4_Missense_Mutation_p.A346V|ATHL1_uc001lou.4_Missense_Mutation_p.A169V|ATHL1_uc001lov.4_Missense_Mutation_p.A55V	p.A594V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	11	1896	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	594					Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	c.1781C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192279	0.78902	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	4.52	4.52	0.55395	Glycoside hydrolase, family 65, central catalytic (1);Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.54908	1.71	0.52501	D	0.999953	D;D	0.61697	0.976;0.99	P;P	0.56960	0.642;0.81	T	0.64512	-0.6390	9	0.42905	T	0.14	.	12.1921	0.54277	0.0:0.9122:0.0:0.0878	.	594;346	Q32M88;B8ZZ60	ATHL1_HUMAN;.	V	594;346;621	.	ENSP00000387099:A621V	A	+	2	0	ATHL1	284169	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	4.555000	0.60767	2.252000	0.74401	0.491000	0.48974	GCG		0.652	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		T	294169	C	T	294169	3	4	223	1	0	0	0	0	1	0	0	0	1104	768	27	1	1823	1	ATHL1	11	294169	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		294169	134712347	54	15606											
TNNT3	7140	broad.mit.edu	37	chr11	1956149	1956149	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgccagaaatatgaCgtgagtcccggcacctccgg	11	6	11	13	4	0	4	0	3	0	1	2	4	2	4	4	2	1	1	4	2	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:1956149C>T	ENST00000397301.1	+	15	722	c.714C>T	c.(712-714)gaC>gaT	p.D238D	TNNT3_ENST00000446240.1_Splice_Site_p.D208D|TNNT3_ENST00000381561.4_Splice_Site_p.D230D|TNNT3_ENST00000381579.3_Splice_Site_p.D219D|TNNT3_ENST00000360603.3_Splice_Site_p.D221D|TNNT3_ENST00000381548.3_Splice_Site_p.D229D|TNNT3_ENST00000381558.1_Splice_Site_p.D219D|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000278317.6_Splice_Site_p.D227D|TNNT3_ENST00000381549.3_Splice_Site_p.D219D|TNNT3_ENST00000381589.3_Splice_Site_p.D225D|TNNT3_ENST00000397304.2_Splice_Site_p.D208D			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	238					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAATATGACGTGAGTCCCG	0.617																																						uc001luu.4																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.e14+1		Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.							103	107	106					11																	1956149		2202	4299	6501	SO:0001630	splice_region_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956149C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.714+1C>T	11.37:g.1956149C>T						TNNT3_uc001lun.2_Splice_Site_p.D123_splice|TNNT3_uc001luw.4_Splice_Site_p.D219_splice|TNNT3_uc001luo.4_Splice_Site_p.D219_splice|TNNT3_uc001lup.4_Splice_Site_p.D225_splice|TNNT3_uc001luq.4_Splice_Site_p.D219_splice|TNNT3_uc001lur.3_Splice_Site_p.D219_splice|TNNT3_uc010qxf.2_Splice_Site_p.D225_splice|TNNT3_uc010qxg.2_Splice_Site_p.D159_splice	p.D227_splice	NM_006757	NP_006748	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	14	893	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	238					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.681_splice																																																																																					0.617	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757	Silent	T	1956149	C	T	1956149	5	4	223	1	0	0	0	0	0	0	1	0	16329	550	19	1	772	1	TNNT3	11	1956149	Splice_Site	SNP	C	TCGA-32-1979-01A-01D-1696-08	1661980	1956149	133050367	55	15607											
SLC6A5	9152	broad.mit.edu	37	chr11	20648387	20648387	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaactcacggatgccaCggtgggcttctaattttatc	10	11	11	9	2	2	1	1	0	1	1	3	3	2	2	1	4	2	1	1	4	3	4	rs146647574	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:20648387C>T	ENST00000525748.1	+	8	1667	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	465					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562																																						uc001mqd.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.e8+1		Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	Glycine(DB00145)	C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	98	94	95		1394	6	1	11	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	SLC6A5	NM_004211.3	81	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	465/798	20648387	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648387C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1395+1C>T	11.37:g.20648387C>T						SLC6A5_uc009yic.3_Splice_Site_p.T230_splice	p.T465_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			8	1668	+			465					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1395_splice	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269015	0.40095	6.81E-4	2.33E-4	ENSG00000165970	ENST00000525748	T	0.74842	-0.88	6.04	6.04	0.98038	.	0.134719	0.64402	D	0.000003	T	0.57888	0.2084	N	0.24115	0.695	0.36378	D	0.861716	B	0.26975	0.165	B	0.20184	0.028	T	0.61362	-0.7078	10	0.41790	T	0.15	.	8.3345	0.32206	0.0:0.8169:0.0:0.1831	.	465	Q9Y345	SC6A5_HUMAN	M	465	ENSP00000434364:T465M	ENSP00000434364:T465M	T	+	2	0	SLC6A5	20604963	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.045000	0.49838	2.873000	0.98535	0.561000	0.74099	ACG		0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	Missense_Mutation	T	20648387	C	T	20648387	5	4	223	1	0	0	0	0	0	0	1	0	14687	550	19	1	1424	1	SLC6A5	11	20648387	Splice_Site	SNP	C	TCGA-32-1979-01A-01D-1696-08	18692238	20648387	114358129	56	15608											
CHST1	8534	broad.mit.edu	37	chr11	45671489	45671489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttctggatccagcgggCcacgtggctgtccagcggga	5	9	16	11	3	1	0	0	0	1	0	3	2	3	2	3	4	2	3	3	4	0	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:45671489C>T	ENST00000308064.2	-	4	1655	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	329					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATCCAGCGGGCCACGTGGCTG	0.632																																						uc021qgn.1																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(985-987)Gcc>Acc		Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.							66	66	66					11																	45671489		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671489C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.985G>A	11.37:g.45671489C>T	ENSP00000309270:p.Ala329Thr					CHST1_uc001mys.2_Missense_Mutation_p.A329T	p.A329T	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	0	985	-			329					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.985G>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227216	0.39399	.	.	ENSG00000175264	ENST00000308064	D	0.82167	-1.58	4.81	3.89	0.44902	Sulfotransferase domain (1);	0.244954	0.40222	N	0.001160	T	0.63248	0.2495	N	0.03608	-0.345	0.30077	N	0.809521	B	0.06786	0.001	B	0.04013	0.001	T	0.54662	-0.8260	10	0.20046	T	0.44	-16.682	12.8975	0.58108	0.0:0.9206:0.0:0.0794	.	329	O43916	CHST1_HUMAN	T	329	ENSP00000309270:A329T	ENSP00000309270:A329T	A	-	1	0	CHST1	45628065	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.707000	0.54838	0.997000	0.38969	0.462000	0.41574	GCC		0.632	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		T	45671489	C	T	45671489	3	4	223	1	0	0	0	0	1	0	0	0	3397	739	26	3	254	3	CHST1	11	45671489	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	25023102	45671489	89335027	57	15609											
TCN1	6947	broad.mit.edu	37	chr11	59629106	59629106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagacacaaggccaaaacGtccaggctgagctggtagta	15	5	11	10	1	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	6	2	rs139772818	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:59629106G>C	ENST00000257264.3	-	4	554	c.450C>G	c.(448-450)gaC>gaG	p.D150E	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	150	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCAAAACGTCCAGGCTGA	0.438																																						uc001noj.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)gaC>gaG		Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						108	105	106					11																	59629106		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629106G>C	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.450C>G	11.37:g.59629106G>C	ENSP00000257264:p.Asp150Glu						p.D150E	NM_001062	NP_001053	P20061	TCO1_HUMAN			3	548	-		all_epithelial(135;0.198)	150					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.450C>G	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107361	0.37145	.	.	ENSG00000134827	ENST00000257264	T	0.35973	1.28	5.12	-9.02	0.00741	.	0.196339	0.32416	N	0.006137	T	0.41305	0.1153	M	0.64997	1.995	0.09310	N	1	P	0.51449	0.945	P	0.52454	0.699	T	0.57458	-0.7808	10	0.36615	T	0.2	.	19.1284	0.93394	0.8687:0.0:0.1313:0.0	.	150	P20061	TCO1_HUMAN	E	150	ENSP00000257264:D150E	ENSP00000257264:D150E	D	-	3	2	TCN1	59385682	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	-3.089000	0.00610	-2.089000	0.00860	-0.137000	0.14449	GAC		0.438	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		C	59629106	G	C	59629106	3	2	223	1	0	0	0	0	1	0	0	0	15703	1136	40	5	875	5	TCN1	11	59629106	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	13957617	59629106	75377410	58	15610											
KDELC2	143888	broad.mit.edu	37	chr11	108352840	108352840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacatctcttgaatccagaGagccacaccatgaaatgata	16	8	6	11	0	1	4	0	3	1	1	3	5	2	4	3	0	2	0	3	0	4	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:108352840G>C	ENST00000323468.5	-	4	859	c.794C>G	c.(793-795)tCt>tGt	p.S265C	KDELC2_ENST00000375648.1_Missense_Mutation_p.S209C|KDELC2_ENST00000434945.2_Missense_Mutation_p.S209C|KDELC2_ENST00000532730.1_Intron	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	265						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGAATCCAGAGAGCCACACCA	0.453																																						uc001pkj.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(793-795)tCt>tGt		Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.							152	156	154					11																	108352840		1939	4134	6073	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108352840G>C	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.794C>G	11.37:g.108352840G>C	ENSP00000315386:p.Ser265Cys					KDELC2_uc001pki.2_Missense_Mutation_p.S209C	p.S265C	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	3	860	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	265					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.794C>G	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022280	0.93462	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.24908	1.83;1.83;1.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65348	-0.6190	10	0.87932	D	0	-1.0E-4	19.2529	0.93932	0.0:0.0:1.0:0.0	.	265;209	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	C	265;209;209	ENSP00000315386:S265C;ENSP00000413429:S209C;ENSP00000364799:S209C	ENSP00000315386:S265C	S	-	2	0	KDELC2	107858050	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.263000	0.95617	2.785000	0.95823	0.655000	0.94253	TCT		0.453	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		C	108352840	G	C	108352840	3	2	223	1	0	0	0	0	1	0	0	0	8118	942	33	5	749	5	KDELC2	11	108352840	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	48723734	108352840	26653676	59	15611											
ALG10B	144245	broad.mit.edu	37	chr12	38714180	38714180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatctgggctgtcttctGtgcagggaatgtcattgcac	7	14	11	9	0	5	0	2	0	3	0	5	1	5	1	0	2	2	3	0	2	2	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:38714180G>A	ENST00000308742.4	+	3	903	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	196					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGGAAT	0.398																																						uc001rln.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(586-588)tGt>tAt		Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.							162	165	164					12																	38714180		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714180G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.587G>A	12.37:g.38714180G>A	ENSP00000310120:p.Cys196Tyr						p.C196Y	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN			2	726	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	196					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.587G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	13.05	2.121377	0.37436	.	.	ENSG00000175548	ENST00000308742	T	0.53857	0.6	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.44542	1.39	0.80722	D	1	D	0.61697	0.99	P	0.59115	0.852	T	0.51585	-0.8687	10	0.02654	T	1	.	12.7892	0.57523	0.0:0.0:1.0:0.0	.	196	Q5I7T1	AG10B_HUMAN	Y	196	ENSP00000310120:C196Y	ENSP00000310120:C196Y	C	+	2	0	ALG10B	37000447	1.000000	0.71417	0.994000	0.49952	0.413000	0.31143	7.434000	0.80377	2.124000	0.65301	0.561000	0.74099	TGT		0.398	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		A	38714180	G	A	38714180	3	1	223	1	0	0	0	0	1	0	0	0	512	1377	48	3	597	3	ALG10B	12	38714180	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		38714180	95137715	60	15612											
MYO1A	4640	broad.mit.edu	37	chr12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctccttgttttcatagcGaagctgaagattcttgagca	11	14	8	8	1	3	3	1	2	2	1	4	4	3	3	1	0	3	3	1	0	4	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:57442017G>A	ENST00000442789.2	-	3	378	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C|MYO1A_ENST00000544473.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(91-93)Cgc>Tgc		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							84	73	77					12																	57442017		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57442017G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.91C>T	12.37:g.57442017G>A	ENSP00000393392:p.Arg31Cys					MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.R31C	p.R31C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			1	331	-			31			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.91C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550512	0.65311	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000433964	D;D;D	0.84944	-1.92;-1.92;-1.92	4.76	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.94676	0.8283	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94898	0.8054	10	0.87932	D	0	.	9.7862	0.40677	0.0:0.0:0.6726:0.3274	.	31	Q9UBC5	MYO1A_HUMAN	C	31	ENSP00000300119:R31C;ENSP00000393392:R31C;ENSP00000400991:R31C	ENSP00000300119:R31C	R	-	1	0	MYO1A	55728284	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	3.816000	0.55658	2.368000	0.80403	0.462000	0.41574	CGC		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57442017	G	A	57442017	3	1	223	1	0	0	0	0	1	0	0	0	10068	1058	37	2	3148	2	MYO1A	12	57442017	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	18727837	57442017	76409878	61	15613											
SLC17A8	246213	broad.mit.edu	37	chr12	100787226	100787226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtgcattacggatgcGtcatgtgtgtcagaattctg	9	12	12	8	2	3	2	2	0	1	2	3	3	3	3	1	1	3	1	1	1	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:100787226G>A	ENST00000323346.5	+	4	866	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.V185I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	185					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTACGGATGCGTCATGTGTGT	0.448																																						uc010svi.2																			0		p.C184C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(553-555)Gtc>Atc		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.							214	183	194					12																	100787226		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100787226G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.553G>A	12.37:g.100787226G>A	ENSP00000316909:p.Val185Ile					SLC17A8_uc009ztx.3_Missense_Mutation_p.V185I	p.V185I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			3	866	+			185					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.553G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814212	0.90790	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57595	0.39;0.39	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.69358	2.11	0.80722	D	1	P;P	0.50819	0.905;0.939	P;P	0.51487	0.671;0.54	T	0.65384	-0.6181	10	0.46703	T	0.11	.	19.207	0.93734	0.0:0.0:1.0:0.0	.	185;185	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	185	ENSP00000316909:V185I;ENSP00000376715:V185I	ENSP00000316909:V185I	V	+	1	0	SLC17A8	99311357	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.444000	0.97578	2.596000	0.87737	0.655000	0.94253	GTC		0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		A	100787226	G	A	100787226	3	1	223	1	0	0	0	0	1	0	0	0	14423	1145	40	1	567	1	SLC17A8	12	100787226	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	43345209	100787226	33064669	62	15614											
CLEC14A	161198	broad.mit.edu	37	chr14	38724727	38724727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtacttgcacaggtagccGttggcgcgcaggtggcatcg	6	9	16	10	4	0	0	0	0	0	0	1	0	0	0	1	5	3	6	1	5	2	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:38724727G>A	ENST00000342213.2	-	1	847	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N167N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682																																						uc001wum.1																			1	Substitution - coding silent(1)	p.N167N(2)	endometrium(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(499-501)aaC>aaT		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							44	39	41					14																	38724727		2199	4290	6489	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724727G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.501C>T	14.37:g.38724727G>A							p.N167N	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	848	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		167			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.501C>T	CCDS9667.1																																																																																				0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		A	38724727	G	A	38724727	2	1	223	1	0	0	0	0	0	0	0	1	3499	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		38724727	68624813	63	15615											
SOS2	6655	broad.mit.edu	37	chr14	50626273	50626273	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcctcagagtcttttacTacaaaacgatatacttcagg	12	15	5	9	1	3	1	2	0	1	1	4	2	4	1	1	1	4	0	1	1	6	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:50626273T>C	ENST00000216373.5	-	10	2002	c.1728A>G	c.(1726-1728)gtA>gtG	p.V576V	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.V543V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	576					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTCTTTTACTACAAAACGAT	0.333																																						uc001wxs.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1726-1728)gtA>gtG		Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.							114	116	115					14																	50626273		2203	4300	6503	SO:0001819	synonymous_variant	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626273T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1728A>G	14.37:g.50626273T>C						SOS2_uc010tql.2_Silent_p.V543V|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Silent_p.V264V	p.V576V	NM_006939	NP_008870	Q07890	SOS2_HUMAN			9	1826	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		576					B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	c.1728A>G	CCDS9697.1																																																																																				0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			C	50626273	T	C	50626273	2	2	223	1	0	0	0	0	0	0	0	1	14937	1509	53	4		4	SOS2	14	50626273	Silent	SNP	T	TCGA-32-1979-01A-01D-1696-08	11901546	50626273	56723267	64	15616											
C14orf145	145508	broad.mit.edu	37	chr14	81223256	81223256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgctttctgctaaccagcGatgtgggtcataatgtatat	9	15	9	8	1	2	0	1	0	1	0	2	1	2	0	1	1	4	3	1	1	4	6	rs373994294		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:81223256G>A	ENST00000555265.1	-	18	2968	c.2593C>T	c.(2593-2595)Cgc>Tgc	p.R865C	CEP128_ENST00000281129.3_Missense_Mutation_p.R865C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	865						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTAACCAGCGATGTGGGTCA	0.289																																						uc001xux.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2593-2595)Cgc>Tgc		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.		G	CYS/ARG	0,4406		0,0,2203	66	66	66		2593	5.4	1	14		66	1,8593	1.2+/-3.3	0,1,4296	no	missense	CEP128	NM_152446.3	180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	865/1095	81223256	1,12999	2203	4297	6500	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81223256G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2593C>T	14.37:g.81223256G>A	ENSP00000451162:p.Arg865Cys					CEP128_uc010asz.2_Non-coding_Transcript	p.R865C	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN			16	2764	-			865					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2593C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397980	0.83120	0.0	1.16E-4	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.37411	1.2;1.2	5.36	5.36	0.76844	.	0.294097	0.27996	N	0.017019	T	0.56485	0.1988	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.55289	-0.8164	10	0.56958	D	0.05	.	17.6808	0.88242	0.0:0.0:1.0:0.0	.	865	Q6ZU80	CE128_HUMAN	C	865;865;865;66	ENSP00000281129:R865C;ENSP00000451162:R865C	ENSP00000281129:R865C	R	-	1	0	CEP128	80293009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.673000	0.90976	0.650000	0.86243	CGC		0.289	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		A	81223256	G	A	81223256	3	1	223	1	0	0	0	0	1	0	0	0	1749	1058	37	2	723	2	C14orf145	14	81223256	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	30596983	81223256	26126284	65	15617											
KIF26A	26153	broad.mit.edu	37	chr14	104639702	104639702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcgggcacccacggcCgagaaggcggctttctacct	7	6	14	14	4	1	1	0	0	1	1	1	3	1	1	3	4	3	3	3	4	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:104639702C>T	ENST00000423312.2	+	9	1719	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A	KIF26A_ENST00000315264.7_Silent_p.A434A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	573	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACCCACGGCCGAGAAGGCGG	0.692																																						uc001yos.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1717-1719)gcC>gcT		Homo sapiens kinesin family member 26A (KIF26A), mRNA.							6	9	8					14																	104639702		1875	4052	5927	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639702C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1719C>T	14.37:g.104639702C>T							p.A573A	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	8	1719	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	573			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.1719C>T	CCDS45171.1																																																																																				0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104639702	C	T	104639702	2	4	223	1	0	0	0	0	0	0	0	1	8294	639	23	2		2	KIF26A	14	104639702	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	23416446	104639702	2709838	66	15618											
SH3GL3	6457	broad.mit.edu	37	chr15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggatacccgcagaCggaaggcttgctgggggact	10	5	15	11	2	0	1	0	0	0	1	0	5	0	4	2	5	2	3	2	5	2	2	rs201410848		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:84237359C>T	ENST00000427482.2	+	4	572	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T97M|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T97M|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T89M	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507													C|||	1	0.000199681	0	0.0014	5008	,	,		16509	0		0	False		,,,				2504	0					uc002bjw.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(265-267)aCg>aTg		Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.							83	83	83					15																	84237359		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237359C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.266C>T	15.37:g.84237359C>T	ENSP00000391372:p.Thr89Met					SH3GL3_uc010uot.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.3_Missense_Mutation_p.T20M|SH3GL3_uc002bju.3_Missense_Mutation_p.T97M|SH3GL3_uc002bjv.3_Non-coding_Transcript	p.T89M	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			3	461	+			89			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.266C>T	CCDS10325.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.6	4.433110	0.83776	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.86	4.86	0.63082	BAR (3);	0.107920	0.64402	D	0.000007	T	0.78130	0.4235	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.68943	0.927;0.961;0.954	T	0.78984	-0.1988	10	0.45353	T	0.12	-26.0409	17.3782	0.87398	0.0:1.0:0.0:0.0	.	89;89;97	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	M	89;89;97;97	ENSP00000391372:T89M;ENSP00000439239:T89M;ENSP00000320092:T97M;ENSP00000397871:T97M	ENSP00000320092:T97M	T	+	2	0	SH3GL3	82028363	1.000000	0.71417	0.896000	0.35187	0.902000	0.53008	7.445000	0.80570	2.402000	0.81655	0.544000	0.68410	ACG		0.507	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		T	84237359	C	T	84237359	3	4	223	1	0	0	0	0	1	0	0	0	14252	536	19	1	280	1	SH3GL3	15	84237359	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		84237359	18294033	67	15619											
UNC45A	55898	broad.mit.edu	37	chr15	91483616	91483616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaatggggttcagctcttGcaacgtttactggacatggg	9	12	13	7	1	2	0	1	0	1	0	2	1	2	1	0	4	4	5	0	4	3	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:91483616G>C	ENST00000418476.2	+	6	640	c.600G>C	c.(598-600)ttG>ttC	p.L200F	UNC45A_ENST00000394275.2_Missense_Mutation_p.L185F|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	200					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCAGCTCTTGCAACGTTTAC	0.567																																						uc002bqg.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)ttG>ttC		Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.							230	166	188					15																	91483616		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91483616G>C		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.600G>C	15.37:g.91483616G>C	ENSP00000407487:p.Leu200Phe					UNC45A_uc002bqd.3_Missense_Mutation_p.L185F|UNC45A_uc010uqo.1_Missense_Mutation_p.L192F|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L200F	p.L200F	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		5	940	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		200					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.600G>C	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811913	0.50527	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.70045	-0.45;-0.45	5.38	1.35	0.21983	Armadillo-like helical (1);Armadillo-type fold (1);	0.094549	0.49916	D	0.000132	T	0.74442	0.3717	M	0.69823	2.125	0.44825	D	0.997839	D;D;D;D	0.76494	0.999;0.999;0.995;0.961	D;D;P;P	0.69479	0.946;0.964;0.873;0.617	T	0.71220	-0.4657	10	0.52906	T	0.07	-13.0338	6.1826	0.20480	0.2662:0.0:0.6137:0.1201	.	200;192;200;185	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	F	185;200	ENSP00000377816:L185F;ENSP00000407487:L200F	ENSP00000377816:L185F	L	+	3	2	UNC45A	89284620	1.000000	0.71417	0.898000	0.35279	0.340000	0.28889	2.580000	0.46068	0.361000	0.24292	0.650000	0.86243	TTG		0.567	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		C	91483616	G	C	91483616	3	2	223	1	0	0	0	0	1	0	0	0	16985	1310	46	5	622	5	UNC45A	15	91483616	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7246257	91483616	11047776	68	15620											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884701	29884701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtggtgcttgtacagcGtctggtagccattctcggga	6	12	15	8	2	2	0	0	0	2	0	3	1	2	1	1	4	4	4	1	4	3	5	rs372252400		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr16:29884701G>A	ENST00000308713.5	-	14	2875	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.T713M|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.T739M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.T669M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	783	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGTACAGCGTCTGGTAGCC	0.622																																						uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2347-2349)aCg>aTg		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4394		0,0,2197	102	103	102		2138,2006,2138,2348	4.4	0.9	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	81,81,81,81	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	713/841,669/810,713/854,783/911	29884701	1,12993	2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884701G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2348C>T	16.37:g.29884701G>A	ENSP00000312550:p.Thr783Met					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.4_Missense_Mutation_p.T713M|SEZ6L2_uc002duq.4_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.2_Missense_Mutation_p.T739M|SEZ6L2_uc002dus.4_Missense_Mutation_p.T669M	p.T783M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			13	2593	-			783			Sushi 5.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2348C>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954245	0.73902	0.0	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.39	4.39	0.52855	Complement control module (2);Sushi/SCR/CCP (3);	0.151000	0.30437	N	0.009621	T	0.78194	0.4245	M	0.64260	1.97	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;1.0;0.999;0.999;1.0	P;D;D;P;D;P	0.65773	0.886;0.938;0.938;0.855;0.91;0.897	T	0.80555	-0.1330	10	0.59425	D	0.04	.	15.8793	0.79193	0.0:0.0:1.0:0.0	.	739;783;669;713;783;713	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	713;783;669;739	ENSP00000310206:T713M;ENSP00000312550:T783M;ENSP00000319215:T669M;ENSP00000439412:T739M	ENSP00000312550:T783M	T	-	2	0	SEZ6L2	29792202	1.000000	0.71417	0.940000	0.37924	0.983000	0.72400	3.029000	0.49712	2.257000	0.74773	0.655000	0.94253	ACG		0.622	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		A	29884701	G	A	29884701	3	1	223	1	0	0	0	0	1	0	0	0	14144	1145	40	1	443	1	SEZ6L2	16	29884701	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		29884701	60470052	69	15621											
MYH1	4619	broad.mit.edu	37	chr17	10406199	10406199	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttagcaatggtttcatcCagacccgccatctcttctgt	8	13	7	13	1	3	1	1	0	2	1	5	1	4	1	3	1	2	3	3	1	2	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:10406199C>A	ENST00000226207.5	-	24	3061	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	989					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTTCATCCAGACCCGCCA	0.507																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2965-2967)ctG>ctT		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							196	184	188					17																	10406199		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406199C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2967G>T	17.37:g.10406199C>A						AK097500_uc002gml.1_Intron	p.L989L	NM_005963	NP_005954	P12882	MYH1_HUMAN			23	3061	-			989					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2967G>T	CCDS11155.1																																																																																				0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10406199	C	A	10406199	2	1	223	1	0	0	0	0	0	0	0	1	10029	581	21	5		5	MYH1	17	10406199	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08		10406199	70789011	70	15622											
SLFN13	146857	broad.mit.edu	37	chr17	33767745	33767745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggcctgagaatcgccGgacactgtccaacacaatgt	11	8	9	13	2	0	1	0	1	0	1	3	3	2	2	4	2	1	0	4	2	3	1	rs371744448		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:33767745G>A	ENST00000285013.6	-	6	2838	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	SLFN13_ENST00000526861.1_Missense_Mutation_p.R855W|SLFN13_ENST00000542635.1_Missense_Mutation_p.R855W|SLFN13_ENST00000534689.1_Missense_Mutation_p.R537W|SLFN13_ENST00000533791.1_Missense_Mutation_p.R855W|SLFN13_ENST00000360502.2_Missense_Mutation_p.R537W	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	855						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGAATCGCCGGACACTGTCC	0.483																																						uc002hjk.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2563-2565)Cgg>Tgg		Homo sapiens schlafen family member 13 (SLFN13), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	253	216	228		2563	3.3	0.9	17		228	0,8600		0,0,4300	no	missense	SLFN13	NM_144682.5	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	855/898	33767745	1,13005	2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33767745G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2563C>T	17.37:g.33767745G>A	ENSP00000285013:p.Arg855Trp					SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W	p.R855W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	2893	-			855					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2563C>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.551490	0.86127	2.27E-4	0.0	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	3.26	3.26	0.37387	.	0.000000	0.43260	D	0.000597	D	0.89598	0.6761	M	0.80183	2.485	0.31505	N	0.664326	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.985	D	0.88752	0.3251	10	0.72032	D	0.01	.	10.1278	0.42661	0.0:0.0:1.0:0.0	.	537;855	Q68D06-2;Q68D06	.;SLN13_HUMAN	W	855;537;855;855;537	ENSP00000285013:R855W;ENSP00000353692:R537W;ENSP00000434439:R855W;ENSP00000444016:R855W;ENSP00000435442:R537W	ENSP00000285013:R855W	R	-	1	2	SLFN13	30791858	0.049000	0.20398	0.906000	0.35671	0.889000	0.51656	2.329000	0.43876	1.807000	0.52817	0.400000	0.26472	CGG		0.483	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		A	33767745	G	A	33767745	3	1	223	1	0	0	0	0	1	0	0	0	14736	1115	39	2	134	2	SLFN13	17	33767745	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	23361546	33767745	47427465	71	15623											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190659	39190659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcaggaggcctcggCgtggtgcagctggcagcagg	6	4	20	11	3	0	0	0	0	0	0	1	1	0	1	1	7	4	6	1	7	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:39190659C>T	ENST00000344363.5	-	1	448	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	149				TP -> HT (in Ref. 1; CAA44938). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGGCCTCGGCGTGGTGCAGC	0.652																																						uc002hvv.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(415-417)Gcc>Acc		Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.							29	35	33					17																	39190659		2069	4197	6266	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190659C>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.415G>A	17.37:g.39190659C>T	ENSP00000344420:p.Ala139Thr						p.A139T	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	449	-		Breast(137;0.000496)	149	TP -> HT (in Ref. 1; CAA44938).				Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.415G>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940021	0.73557	.	.	ENSG00000221880	ENST00000344363	T	0.35973	1.28	4.52	3.53	0.40419	.	.	.	.	.	T	0.56906	0.2017	.	.	.	0.29205	N	0.874946	D	0.89917	1.0	D	0.85130	0.997	T	0.53056	-0.8492	8	0.66056	D	0.02	.	10.5493	0.45079	0.1937:0.8063:0.0:0.0	.	149	Q8IUG1	KRA13_HUMAN	T	139	ENSP00000344420:A139T	ENSP00000344420:A139T	A	-	1	0	KRTAP1-3	36444185	0.709000	0.27886	0.879000	0.34478	0.987000	0.75469	0.999000	0.29757	1.184000	0.42957	0.643000	0.83706	GCC		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			T	39190659	C	T	39190659	3	4	223	1	0	0	0	0	1	0	0	0	8503	768	27	1	92	1	KRTAP1-3	17	39190659	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	5422914	39190659	42004551	72	15624											
OR4D2	124538	broad.mit.edu	37	chr17	56247206	56247206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatgtactttctgctcCgaaacctggctgtcctagac	8	11	7	15	1	1	1	0	0	1	1	3	2	3	1	4	1	3	3	4	1	3	3	rs148589207		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:56247206C>T	ENST00000545221.1	+	1	190	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTTCTGCTCCGAAACCTGGC	0.483																																						uc010wnp.2																			0		p.L63F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(190-192)Cga>Tga		Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	198	180	186		190	3.4	0.5	17	dbSNP_134	186	0,8600		0,0,4300	yes	stop-gained	OR4D2	NM_001004707.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		64/308	56247206	1,13005	2203	4300	6503	SO:0001587	stop_gained	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247206C>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.190C>T	17.37:g.56247206C>T	ENSP00000441354:p.Arg64*						p.R64*	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			0	190	+			64					Q6IFN8|Q96R75	Nonsense_Mutation	SNP	ENST00000545221.1	37	c.190C>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699404	0.68501	2.27E-4	0.0	ENSG00000255713	ENST00000545221	.	.	.	5.4	3.42	0.39159	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.4778	5.7928	0.18369	0.1532:0.6839:0.0:0.1629	.	.	.	.	X	64	.	ENSP00000441354:R64X	R	+	1	2	OR4D2	53602205	0.000000	0.05858	0.533000	0.28001	0.882000	0.50991	-1.474000	0.02337	0.788000	0.33755	-0.166000	0.13349	CGA		0.483	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			T	56247206	C	T	56247206	4	4	223	1	0	0	0	0	0	1	0	0	11056	644	23	2	192	2	OR4D2	17	56247206	Nonsense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	17056547	56247206	24948004	73	15625											
EPB41L3	23136	broad.mit.edu	37	chr18	5395100	5395100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcatcccccgtgatgActattcgcttctcaattctt	6	16	6	13	2	3	2	1	2	3	0	6	2	4	2	2	0	1	2	2	0	2	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:5395100A>G	ENST00000341928.2	-	21	3459	c.3119T>C	c.(3118-3120)gTc>gCc	p.V1040A	EPB41L3_ENST00000400111.3_Missense_Mutation_p.V818A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V818A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V871A|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V345A|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V337A|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V1040A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1040	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCGTGATGACTATTCGCTT	0.448																																						uc002kmt.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3118-3120)gTc>gCc		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							150	127	135					18																	5395100		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395100A>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3119T>C	18.37:g.5395100A>G	ENSP00000343158:p.Val1040Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	p.V1040A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			20	3205	-			1040			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3119T>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	32	5.161427	0.94727	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92237	0.7538	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;P;D;P	0.89917	0.986;0.996;0.999;0.972;0.999;0.952;1.0;0.944	D;D;D;D;D;P;D;D	0.91635	0.977;0.986;0.997;0.928;0.994;0.814;0.999;0.968	D	0.93223	0.6610	10	0.66056	D	0.02	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	871;337;345;432;709;818;1040;275	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	A	1040;709;871;709;337;345;1040;818	ENSP00000343158:V1040A;ENSP00000441174:V871A;ENSP00000392195:V337A;ENSP00000442233:V345A;ENSP00000341138:V1040A;ENSP00000382981:V818A	ENSP00000343158:V1040A	V	-	2	0	EPB41L3	5385100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.281000	0.76405	0.533000	0.62120	GTC		0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		G	5395100	A	G	5395100	3	3	223	1	0	0	0	0	1	0	0	0	5154	275	10	4	152	4	EPB41L3	18	5395100	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08		5395100	72682148	74	15626											
MC5R	4161	broad.mit.edu	37	chr18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccggggccagctctgCgcggcagaggaccagcatgc	6	5	15	15	3	2	1	0	0	2	1	2	2	2	2	3	4	5	3	3	4	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:13826447C>T	ENST00000324750.3	+	1	905	c.683C>T	c.(682-684)gCg>gTg	p.A228V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	228				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCAGCTCTGCGCGGCAGAGG	0.612																																						uc010xaf.2																			0		p.A228T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(682-684)gCg>gTg		Homo sapiens melanocortin 5 receptor (MC5R), mRNA.							213	183	193					18																	13826447		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826447C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.683C>T	18.37:g.13826447C>T	ENSP00000318077:p.Ala228Val						p.A228V	NM_005913	NP_005904	P33032	MC5R_HUMAN			0	905	+			228	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).				B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.683C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209878	0.01555	.	.	ENSG00000176136	ENST00000324750	T	0.38560	1.13	4.88	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.175474	0.49916	N	0.000124	T	0.12774	0.0310	N	0.01235	-0.94	0.22552	N	0.998996	B	0.02656	0.0	B	0.06405	0.002	T	0.32587	-0.9901	10	0.07813	T	0.8	.	8.6486	0.34020	0.0:0.1638:0.0:0.8362	.	228	P33032	MC5R_HUMAN	V	228	ENSP00000318077:A228V	ENSP00000318077:A228V	A	+	2	0	MC5R	13816447	0.998000	0.40836	0.002000	0.10522	0.007000	0.05969	2.894000	0.48640	0.195000	0.20347	-0.680000	0.03767	GCG		0.612	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826447	C	T	13826447	3	4	223	1	0	0	0	0	1	0	0	0	9367	768	27	1	685	1	MC5R	18	13826447	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	8431347	13826447	64250801	75	15627											
CDH19	28513	broad.mit.edu	37	chr18	64218345	64218345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttactttctttaaatataGgcttattgtcattaacatct	12	19	3	7	0	3	0	1	0	2	0	3	0	3	0	0	1	2	1	0	1	7	9			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:64218345G>A	ENST00000540086.1	-	5	1007	c.761C>T	c.(760-762)cCt>cTt	p.P254L	CDH19_ENST00000262150.2_Missense_Mutation_p.P254L	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	360	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTAAATATAGGCTTATTGTC	0.294																																						uc002lkc.1																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(760-762)cCt>cTt		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.							53	55	54					18																	64218345		2202	4300	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64218345G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.761C>T	18.37:g.64218345G>A	ENSP00000439593:p.Pro254Leu					CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.3_Missense_Mutation_p.P254L	p.P254L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			4	899	-		Esophageal squamous(42;0.0132)	254			Cadherin 2.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.761C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812442	0.50527	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.72394	-0.65;-0.65	5.83	5.83	0.93111	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93623	0.6949	10	0.87932	D	0	.	19.7091	0.96085	0.0:0.0:1.0:0.0	.	254;254	F5H1K0;Q9H159	.;CAD19_HUMAN	L	254;254;199	ENSP00000262150:P254L;ENSP00000439593:P254L	ENSP00000262150:P254L	P	-	2	0	CDH19	62369325	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.865000	0.92300	2.763000	0.94921	0.585000	0.79938	CCT		0.294	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		A	64218345	G	A	64218345	3	1	223	1	0	0	0	0	1	0	0	0	3104	1000	35	3	1589	3	CDH19	18	64218345	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	50391898	64218345	13858903	76	15628											
NFIX	4784	broad.mit.edu	37	chr19	13189498	13189498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcagggcagctccccgCgcatggctttcacccaccac	6	7	8	20	2	2	0	2	0	1	0	4	0	3	0	5	2	1	4	5	2	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:13189498C>T	ENST00000592199.1	+	7	1027	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	NFIX_ENST00000358552.3_Intron|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000397661.2_Missense_Mutation_p.R343C|NFIX_ENST00000585575.1_Missense_Mutation_p.R335C|NFIX_ENST00000587760.1_Missense_Mutation_p.R335C|NFIX_ENST00000587260.1_Missense_Mutation_p.R342C|NFIX_ENST00000588228.1_Missense_Mutation_p.R296C			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	343					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGCTCCCCGCGCATGGCTTT	0.642																																						uc010xmx.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1051-1053)Cgc>Tgc		Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.							19	22	21					19																	13189498		1994	4153	6147	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13189498C>T	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1027C>T	19.37:g.13189498C>T	ENSP00000467512:p.Arg343Cys					NFIX_uc002mwd.3_Missense_Mutation_p.R343C|NFIX_uc002mwe.3_Missense_Mutation_p.R335C|NFIX_uc002mwf.3_Intron|NFIX_uc002mwg.2_Missense_Mutation_p.R342C	p.R351C			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		6	1104	+			343					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1051C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.588627	0.86851	.	.	ENSG00000008441	ENST00000397661;ENST00000360105	T	0.42513	0.97	5.28	5.28	0.74379	.	0.156005	0.46442	D	0.000282	T	0.57844	0.2081	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.998;0.995;0.999;0.997	P;P;P;P	0.60886	0.828;0.736;0.88;0.736	T	0.58493	-0.7627	10	0.48119	T	0.1	.	13.3365	0.60520	0.1586:0.8414:0.0:0.0	.	351;342;343;343	B4DHW2;Q14938-5;Q14938;Q14938-3	.;.;NFIX_HUMAN;.	C	343	ENSP00000380781:R343C	ENSP00000353219:R343C	R	+	1	0	NFIX	13050498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.464000	0.83262	0.603000	0.83216	CGC		0.642	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		T	13189498	C	T	13189498	3	4	223	1	0	0	0	0	1	0	0	0	10374	768	27	1	1053	1	NFIX	19	13189498	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		13189498	45939485	77	15629											
CYP4F22	126410	broad.mit.edu	37	chr19	15648390	15648390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaagtggagccggcacCgtcgcctgctgacacccgcc	7	5	13	16	4	0	2	0	2	0	0	1	3	0	3	5	2	2	2	5	2	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:15648390C>T	ENST00000269703.3	+	6	665	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R156C	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	156						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAGCCGGCACCGTCGCCTGCT	0.542																																						uc002nbh.4																			0		p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(466-468)Cgt>Tgt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.							69	69	69					19																	15648390		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648390C>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.466C>T	19.37:g.15648390C>T	ENSP00000269703:p.Arg156Cys						p.R156C	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			5	633	+			156					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.466C>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088356	0.76756	.	.	ENSG00000171954	ENST00000269703	D	0.85955	-2.05	5.27	5.27	0.74061	.	0.059415	0.64402	D	0.000003	D	0.94912	0.8355	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96366	0.9270	10	0.87932	D	0	.	16.4017	0.83642	0.0:1.0:0.0:0.0	.	156	Q6NT55	CP4FN_HUMAN	C	156	ENSP00000269703:R156C	ENSP00000269703:R156C	R	+	1	0	CYP4F22	15509390	1.000000	0.71417	0.986000	0.45419	0.915000	0.54546	3.595000	0.54016	2.475000	0.83589	0.313000	0.20887	CGT		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		T	15648390	C	T	15648390	3	4	223	1	0	0	0	0	1	0	0	0	4189	652	23	2	480	2	CYP4F22	19	15648390	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	2458892	15648390	43480593	78	15630											
UPF1	5976	broad.mit.edu	37	chr19	18968250	18968250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcatccggcccatccGcctgcaggtccagtaccgga	6	6	13	16	3	0	0	0	0	0	0	3	1	3	1	6	4	2	4	6	4	1	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:18968250G>A	ENST00000599848.1	+	15	2332	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	UPF1_ENST00000262803.5_Missense_Mutation_p.R697H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCCATCCGCCTGCAGGTC	0.642																																						uc002nkg.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2122-2124)cGc>cAc		Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.							37	37	37					19																	18968250		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968250G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2123G>A	19.37:g.18968250G>A	ENSP00000470142:p.Arg708His					UPF1_uc002nkf.3_Missense_Mutation_p.R697H|UPF1_uc002nkh.3_5'Flank	p.R708H	NM_002911	NP_002902	Q92900	RENT1_HUMAN			14	2398	+			708					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2123G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.275120	0.95459	.	.	ENSG00000005007	ENST00000262803	D	0.92348	-3.02	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	D	0.96257	0.9188	10	0.87932	D	0	-41.6506	16.1478	0.81583	0.0:0.0:1.0:0.0	.	708;697	Q92900;Q92900-2	RENT1_HUMAN;.	H	697	ENSP00000262803:R697H	ENSP00000262803:R697H	R	+	2	0	UPF1	18829250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.369000	0.97156	2.159000	0.67721	0.561000	0.74099	CGC		0.642	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		A	18968250	G	A	18968250	3	1	223	1	0	0	0	0	1	0	0	0	17000	1087	38	1	2148	1	UPF1	19	18968250	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	3319860	18968250	40160733	79	15631											
ATP13A1	57130	broad.mit.edu	37	chr19	19758484	19758484	+	Frame_Shift_Del	DEL	C	C	-																															tcctggaggtggctctgatgCcactgttgctcagggttggg																										TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:19758484delC	ENST00000357324.6	-	20	2743	c.2717delG	c.(2716-2718)ggcfs	p.G906fs	ATP13A1_ENST00000291503.5_Frame_Shift_Del_p.G788fs	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	906						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGATGCCACTGTTGCT	0.697																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.4																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2716-2718)ggcfs		Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.							30	29	30					19																	19758484		2203	4300	6503	SO:0001589	frameshift_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19758484delC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2717delG	19.37:g.19758484delC	ENSP00000349877:p.Gly906fs					ATP13A1_uc002nne.3_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.4_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.3_Frame_Shift_Del_p.G788fs	p.G906fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			19	2745	-			906					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Frame_Shift_Del	DEL	ENST00000357324.6	37	c.2717delG	CCDS32970.2																																																																																				0.697	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		-	19758484	C	-	19758484	7	5	223	1	0	1	0	1	0	0	0	0	1123	739	26	0	925	0	ATP13A1	19	19758484	Frame_Shift_Del	DEL	C	TCGA-32-1979-01A-01D-1696-08	790234	19758484	39370499	80	15632											
ZNF676	163223	broad.mit.edu	37	chr19	22363727	22363727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtattaagggttgagacGctactaaatcctttgccaca	11	13	9	8	1	0	1	0	1	0	1	1	2	1	1	2	1	2	3	2	1	5	6	rs375422919		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:22363727G>A	ENST00000397121.2	-	3	1109	c.792C>T	c.(790-792)agC>agT	p.S264S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398																																						uc002nqs.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(790-792)agC>agT		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.		G		0,4316		0,0,2158	94	100	98		792	-1.6	0	19		98	1,8545		0,1,4272	no	coding-synonymous	ZNF676	NM_001001411.2		0,1,6430	AA,AG,GG		0.0117,0.0,0.0078		264/589	22363727	1,12861	2158	4273	6431	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363727G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.792C>T	19.37:g.22363727G>A							p.S264S	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	1110	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	264					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.792C>T	CCDS42539.1																																																																																				0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363727	G	A	22363727	2	1	223	1	0	0	0	0	0	0	0	1	18080	1078	38	1		1	ZNF676	19	22363727	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	2605243	22363727	36765256	81	15633											
FAM187B	148109	broad.mit.edu	37	chr19	35719014	35719014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagctcaggccgcaagcgGctagaccacaccagcacctc	10	4	10	17	2	1	1	1	0	0	1	2	1	1	1	4	2	4	5	4	2	2	1	rs551881022		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:35719014G>A	ENST00000324675.3	-	1	618	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	190						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCGCAAGCGGCTAGACCACA	0.577													G|||	1	0.000199681	0	0	5008	,	,		17619	0		0	False		,,,				2504	0.001					uc002nyk.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(568-570)agC>agT		Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.							65	59	61					19																	35719014		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35719014G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.570C>T	19.37:g.35719014G>A							p.S190S	NM_152481	NP_689694	Q17R55	F187B_HUMAN			0	615	-			190					Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.570C>T	CCDS12448.1																																																																																				0.577	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		A	35719014	G	A	35719014	2	1	223	1	0	0	0	0	0	0	0	1	5513	1194	42	3		3	FAM187B	19	35719014	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	13355287	35719014	23409969	82	15634											
RYR1	6261	broad.mit.edu	37	chr19	39051893	39051893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcgacatcggcttcaaCgtggcggtgctgctgaccaa	8	7	13	13	5	1	1	1	1	0	0	2	2	1	1	1	3	3	4	1	3	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:39051893C>T	ENST00000359596.3	+	90	12423	c.12423C>T	c.(12421-12423)aaC>aaT	p.N4141N	RYR1_ENST00000355481.4_Silent_p.N4136N|RYR1_ENST00000360985.3_Silent_p.N4136N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4141					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGGCTTCAACGTGGCGGTGC	0.592																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12421-12423)aaC>aaT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						86	72	77					19																	39051893		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39051893C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12423C>T	19.37:g.39051893C>T						RYR1_uc002oiu.3_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	p.N4141N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		89	12553	+	all_cancers(60;7.91e-06)		4141					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12423C>T	CCDS33011.1																																																																																				0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39051893	C	T	39051893	2	4	223	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	39051893	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	3332879	39051893	20077090	83	15635											
CYP2B6	1555	broad.mit.edu	37	chr19	41512823	41512823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctaggggccctcatggaCcccaccttcctcttccagtc	5	11	7	18	0	2	0	1	0	1	0	6	1	5	1	7	3	0	0	7	3	1	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:41512823C>T	ENST00000324071.4	+	4	505	c.498C>T	c.(496-498)gaC>gaT	p.D166D	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	166					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCCTCATGGACCCCACCTTCC	0.512																																						uc002opr.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(496-498)gaC>gaT		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						70	63	66					19																	41512823		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512823C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.498C>T	19.37:g.41512823C>T						CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.D166D	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		3	505	+			166					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.498C>T	CCDS12570.1																																																																																				0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41512823	C	T	41512823	2	4	223	1	0	0	0	0	0	0	0	1	4164	506	18	3		3	CYP2B6	19	41512823	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	2460930	41512823	17616160	84	15636											
MYH14	79784	broad.mit.edu	37	chr19	50812362	50812362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgccggaggctgcagcGtgagctggaagatgtcacag	8	5	17	11	4	1	2	1	1	0	1	1	4	1	4	2	4	3	3	2	4	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:50812362G>A	ENST00000596571.1	+	39	5765	c.5765G>A	c.(5764-5766)cGt>cAt	p.R1922H	MYH14_ENST00000425460.1_Missense_Mutation_p.R1930H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1963H|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000440075.2_Missense_Mutation_p.R1963H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1963H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1930H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1955H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1922					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCTGCAGCGTGAGCTGGAA	0.632																																						uc010enu.1																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5887-5889)cGt>cAt		Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.							73	76	75					19																	50812362		2094	4214	6308	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812362G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5765G>A	19.37:g.50812362G>A	ENSP00000472819:p.Arg1922His					MYH14_uc002prq.1_Missense_Mutation_p.R1930H|MYH14_uc002prr.1_Missense_Mutation_p.R1922H|MYH14_uc010ycb.2_Missense_Mutation_p.R273H|MYH14_uc002prs.1_Missense_Mutation_p.R273H	p.R1963H	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	41	5935	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1922					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5888G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866485	0.51588	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.82	1.6	0.23607	Myosin tail (1);	.	.	.	.	T	0.60287	0.2257	L	0.33245	0.995	0.50039	D	0.999849	B;B;B	0.27416	0.051;0.062;0.178	B;B;B	0.30105	0.039;0.066;0.111	T	0.49698	-0.8912	9	0.02654	T	1	.	7.8003	0.29170	0.1908:0.0:0.8092:0.0	.	1963;1922;1930	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1963;1955;1930;1706;1963	ENSP00000406273:R1963H;ENSP00000366169:R1955H;ENSP00000407879:R1930H;ENSP00000262269:R1963H	ENSP00000262269:R1963H	R	+	2	0	MYH14	55504174	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.879000	0.69690	0.368000	0.24481	0.462000	0.41574	CGT		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50812362	G	A	50812362	3	1	223	1	0	0	0	0	1	0	0	0	10033	1145	40	1	6050	1	MYH14	19	50812362	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9299539	50812362	8316621	85	15637											
ZNF135	7694	broad.mit.edu	37	chr19	58579130	58579130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagagcacactcctgacCgagcatcggaggattcacac	12	6	10	13	2	2	2	2	1	0	1	4	5	3	4	2	2	2	2	2	2	0	1	rs141591921	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:58579130C>T	ENST00000313434.5	+	5	1379	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	ZNF135_ENST00000511556.1_Silent_p.T438T|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Silent_p.T384T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Silent_p.T450T|ZNF135_ENST00000439855.2_Silent_p.T426T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	426					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547													C|||	2	0.000399361	8e-04	0	5008	,	,		21290	0		0	False		,,,				2504	0.001					uc002qrg.3																			2	Substitution - coding silent(2)	p.T426T(1)|p.T450T(1)	lung(2)	breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1348-1350)acC>acT		Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.		C	,,,	0,4406		0,0,2203	71	71	71		,,1314,1350	-6.2	0	19	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,coding-synonymous,coding-synonymous	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,438/671,450/683	58579130	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579130C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1278C>T	19.37:g.58579130C>T						ZNF135_uc002qre.3_Silent_p.T426T|ZNF135_uc002qrf.3_Silent_p.T384T|ZNF135_uc010yhq.2_Silent_p.T438T|ZNF135_uc010yhr.2_Silent_p.T247T|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	p.T450T	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	3	1353	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	438					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.1350C>T		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248508	0.00271	0.0	1.16E-4	ENSG00000176293	ENST00000391699	.	.	.	3.1	-6.2	0.02072	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05852	-1.0860	4	.	.	.	.	3.6953	0.08361	0.1913:0.1646:0.4813:0.1628	.	.	.	.	L	444	.	.	P	+	2	0	ZNF135	63270942	0.000000	0.05858	0.047000	0.18901	0.003000	0.03518	-9.557000	0.00010	-5.416000	0.00015	-3.537000	0.00031	CCG		0.547	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		T	58579130	C	T	58579130	2	4	223	1	0	0	0	0	0	0	0	1	17722	639	23	2		2	ZNF135	19	58579130	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	7766768	58579130	549853	86	15638											
RSPO4	343637	broad.mit.edu	37	chr20	944738	944738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcaggggctccagccGccccagggacccagttcaca	7	6	13	15	1	1	0	1	0	0	0	2	1	2	1	5	3	2	3	5	3	0	1	rs201319898		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:944738G>A	ENST00000217260.4	-	4	531	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	145	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)	p.G145G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCTCCAGCCGCCCCAGGGAC	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		15513	0		0	False		,,,				2504	0					uc002wej.3																			1	Substitution - coding silent(1)	p.G145G(2)	endometrium(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(433-435)ggC>ggT		Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.							15	18	17					20																	944738		1898	4104	6002	SO:0001819	synonymous_variant	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944738G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.435C>T	20.37:g.944738G>A						RSPO4_uc002wek.3_Intron	p.G145G	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			3	535	-			145			TSP type-1.		A2A2I6|Q9UGB2	Silent	SNP	ENST00000217260.4	37	c.435C>T	CCDS42846.1																																																																																				0.652	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		A	944738	G	A	944738	2	1	223	1	0	0	0	0	0	0	0	1	13712	1074	38	1		1	RSPO4	20	944738	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		944738	62080782	87	15639											
FAM83C	128876	broad.mit.edu	37	chr20	33880014	33880014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcggtgagctctcccGccaccacggcagcttcagct	7	6	10	18	3	2	1	1	1	1	0	3	1	2	1	4	2	4	4	4	2	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:33880014G>A	ENST00000374408.3	-	1	190	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	32										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGCTCTCCCGCCACCACGGC	0.746																																						uc021wck.1																			0		p.R32R(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(94-96)Cgg>Tgg		Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.							7	8	8					20																	33880014		1737	3517	5254	SO:0001583	missense	128876							g.chr20:33880014G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.94C>T	20.37:g.33880014G>A	ENSP00000363529:p.Arg32Trp					FAM83C_uc002xcb.1_5'UTR	p.R32W	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		0	212	-			32					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.94C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950780	0.73787	.	.	ENSG00000125998	ENST00000374408	T	0.11712	2.75	5.09	2.94	0.34122	.	0.129252	0.33253	N	0.005114	T	0.26195	0.0639	L	0.55990	1.75	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	T	0.01889	-1.1253	10	0.87932	D	0	-13.6314	12.3306	0.55038	0.0:0.0:0.557:0.443	.	32	Q9BQN1	FA83C_HUMAN	W	32	ENSP00000363529:R32W	ENSP00000363529:R32W	R	-	1	2	FAM83C	33343428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.403000	0.34612	1.224000	0.43551	0.462000	0.41574	CGG		0.746	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			A	33880014	G	A	33880014	3	1	223	1	0	0	0	0	1	0	0	0	5635	1086	38	1	2165	1	FAM83C	20	33880014	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	32935276	33880014	29145506	88	15640											
HNF4A	3172	broad.mit.edu	37	chr20	43052742	43052742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactacatcaacgaccGccagtatgactcgcgtggcc	10	6	12	13	4	1	1	1	1	0	0	2	4	1	3	3	3	2	1	3	3	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43052742G>A	ENST00000316099.4	+	8	1066	c.977G>A	c.(976-978)cGc>cAc	p.R326H	HNF4A_ENST00000415691.2_Missense_Mutation_p.R326H|HNF4A_ENST00000609795.1_Missense_Mutation_p.R304H|AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.R326H|HNF4A_ENST00000457232.1_Missense_Mutation_p.R304H|HNF4A_ENST00000316673.4_Missense_Mutation_p.R304H	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	326					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATCAACGACCGCCAGTATGAC	0.582																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(976-978)cGc>cAc		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							35	25	29					20																	43052742		2203	4295	6498	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43052742G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.977G>A	20.37:g.43052742G>A	ENSP00000312987:p.Arg326His					HNF4A_uc002xlt.3_Missense_Mutation_p.R304H|HNF4A_uc002xlu.3_Missense_Mutation_p.R304H|HNF4A_uc002xlv.3_Missense_Mutation_p.R304H|HNF4A_uc002xly.3_Missense_Mutation_p.R326H|HNF4A_uc010ggq.3_Missense_Mutation_p.R319H|HNF4A_uc002xlz.3_Missense_Mutation_p.R326H	p.R326H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1066	+		Myeloproliferative disorder(115;0.0122)	326					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.977G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317030	0.81469	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98	5.16	5.16	0.70880	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.406531	0.27289	N	0.020059	D	0.94528	0.8238	L	0.38838	1.175	0.80722	D	1	P;P;P;P;P;P;B	0.52842	0.956;0.684;0.83;0.946;0.956;0.946;0.15	P;B;B;B;P;B;B	0.45195	0.473;0.219;0.206;0.394;0.473;0.341;0.09	D	0.94754	0.7930	10	0.51188	T	0.08	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	319;326;326;326;304;304;304	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	H	304;304;326;326;356;326	ENSP00000315180:R304H;ENSP00000396216:R304H;ENSP00000312987:R326H;ENSP00000410911:R326H;ENSP00000412111:R326H	ENSP00000312987:R326H	R	+	2	0	HNF4A	42486156	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.869000	0.99810	2.398000	0.81561	0.563000	0.77884	CGC		0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			A	43052742	G	A	43052742	3	1	223	1	0	0	0	0	1	0	0	0	7253	1087	38	1	1060	1	HNF4A	20	43052742	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9172728	43052742	19972778	89	15641											
SEMG1	6406	broad.mit.edu	37	chr20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaagatgtatcccaaCgcagtatttatagccaaact	15	10	7	9	1	0	2	0	0	0	2	1	2	1	2	2	0	4	4	2	0	7	5	rs199672858	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43837052C>T	ENST00000372781.3	+	2	1171	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													A|||	2	0.000399361	8e-04	0	5008	,	,		22478	0		0.001	False		,,,				2504	0					uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							77	71	73					20																	43837052		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837052C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>T	20.37:g.43837052C>T	ENSP00000361867:p.Arg372Cys					SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.44	1.640642	0.29157	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06528	3.29;3.29	0.951	-1.9	0.07665	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.27498	0.18;0.109	B;B	0.15052	0.01;0.012	T	0.39603	-0.9606	9	0.72032	D	0.01	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	C	312;372	ENSP00000244069:R312C;ENSP00000361867:R372C	ENSP00000244069:R312C	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		T	43837052	C	T	43837052	3	4	223	1	0	0	0	0	1	0	0	0	14044	536	19	1	1120	1	SEMG1	20	43837052	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	784310	43837052	19188468	90	15642											
CBR1	873	broad.mit.edu	37	chr21	37442646	37442646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgcgcgacttcctgcGcaaggagtacgggggcctgg	5	6	16	14	5	0	0	0	0	0	0	1	2	1	1	3	4	3	2	3	4	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:37442646G>A	ENST00000290349.6	+	1	408	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CBR1_ENST00000466328.2_3'UTR|CBR1_ENST00000439427.2_Missense_Mutation_p.R78H|CBR1_ENST00000530908.1_Missense_Mutation_p.R78H|SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000399191.3_Missense_Mutation_p.R78H	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	78					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	GACTTCCTGCGCAAGGAGTAC	0.672																																						uc002yvb.1																			0				endometrium(2)|kidney(3)	5						c.(232-234)cGc>cAc		Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	Acetohexamide(DB00414)|Lubiprostone(DB01046)						33	30	31					21																	37442646		2192	4277	6469	SO:0001583	missense	873				drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	g.chr21:37442646G>A		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.233G>A	21.37:g.37442646G>A	ENSP00000290349:p.Arg78His					LOC100133286_uc011aea.1_Non-coding_Transcript|SETD4_uc002yva.3_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	p.R78H	NM_001757	NP_001748	P16152	CBR1_HUMAN			0	362	+			78					B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	c.233G>A	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003067	0.74932	.	.	ENSG00000159228	ENST00000530908;ENST00000290349;ENST00000439427;ENST00000399191	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.41	-2.61	0.06171	NAD(P)-binding domain (1);	0.716218	0.14052	N	0.344659	D	0.83982	0.5372	N	0.16903	0.455	0.09310	N	1	D;D;B	0.71674	0.998;0.995;0.011	P;P;B	0.61070	0.776;0.883;0.01	T	0.74447	-0.3662	10	0.62326	D	0.03	.	4.5944	0.12322	0.2945:0.0:0.2481:0.4574	.	78;78;78	B4DFK7;E9PQ63;P16152	.;.;CBR1_HUMAN	H	78	ENSP00000434613:R78H;ENSP00000290349:R78H;ENSP00000395132:R78H;ENSP00000382143:R78H	ENSP00000290349:R78H	R	+	2	0	CBR1	36364516	0.007000	0.16637	0.016000	0.15963	0.945000	0.59286	0.419000	0.21247	-0.398000	0.07679	-1.367000	0.01198	CGC		0.672	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			A	37442646	G	A	37442646	3	1	223	1	0	0	0	0	1	0	0	0	2708	1087	38	1	235	1	CBR1	21	37442646	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		37442646	10687249	91	15643											
RIPK4	54101	broad.mit.edu	37	chr21	43161157	43161157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgctgagcccctgctcGtcgaacaggtcaatgacatc	9	7	11	14	4	1	2	1	2	0	0	4	3	1	2	2	1	4	2	2	1	2	0	rs372475043		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:43161157G>A	ENST00000352483.2	-	9	2404	c.2340C>T	c.(2338-2340)gaC>gaT	p.D780D	RIPK4_ENST00000542057.1_Silent_p.D669D|RIPK4_ENST00000544709.1_Silent_p.D669D|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.D732D			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	780					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCCTGCTCGTCGAACAGGT	0.692																																						uc002yzn.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2194-2196)gaC>gaT		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.		G		0,4406		0,0,2203	59	60	60		2196	-5.6	0	21		60	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	RIPK4	NM_020639.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		732/785	43161157	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161157G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2340C>T	21.37:g.43161157G>A							p.D732D	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	2244	-			732					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.2196C>T																																																																																					0.692	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43161157	G	A	43161157	2	1	223	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161157	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	5718511	43161157	4968738	92	15644											
C21orf58	54058	broad.mit.edu	37	chr21	47738114	47738114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgttgcctgcagggcgggCcttacctcctggagaccagc	5	8	15	13	1	0	1	0	0	0	1	1	2	1	1	5	4	4	2	5	4	1	2	rs200456158		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47738114C>A	ENST00000291691.7	-	2	1257	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397685.4_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	41										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCAGGGCGGGCCTTACCTCCT	0.652																																						uc002zjf.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9						c.(121-123)Gcc>Tcc		Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.		C	SER/ALA	0,4406		0,0,2203	52	54	53		121	0.9	0	21		53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C21orf58	NM_058180.3	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	41/323	47738114	1,13005	2203	4300	6503	SO:0001583	missense	54058							g.chr21:47738114C>A		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.121G>T	21.37:g.47738114C>A	ENSP00000291691:p.Ala41Ser					C21orf58_uc002ziz.3_5'UTR|C21orf58_uc002zja.3_5'UTR|C21orf58_uc002zjc.3_5'UTR|C21orf58_uc011afx.2_5'UTR|C21orf58_uc010gqj.2_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript	p.A41S	NM_058180	NP_478060	P58505	CU058_HUMAN		Colorectal(79;0.239)	1	1254	-	Breast(49;0.112)		41					B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	37	c.121G>T	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	C	1.656	-0.512743	0.04200	0.0	1.16E-4	ENSG00000160298	ENST00000417060;ENST00000291691	T;T	0.51325	0.77;0.71	2.85	0.888	0.19206	.	.	.	.	.	T	0.32971	0.0847	N	0.22421	0.69	0.19575	N	0.999963	B	0.15473	0.013	B	0.17098	0.017	T	0.30794	-0.9966	9	0.87932	D	0	.	9.0287	0.36245	0.0:0.5224:0.4776:0.0	.	41	P58505	CU058_HUMAN	S	3;41	ENSP00000402356:A3S;ENSP00000291691:A41S	ENSP00000291691:A41S	A	-	1	0	C21orf58	46562542	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.150000	0.10189	0.066000	0.16515	0.460000	0.39030	GCC		0.652	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		A	47738114	C	A	47738114	3	1	223	1	0	0	0	0	1	0	0	0	2129	739	26	5	875	5	C21orf58	21	47738114	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4576957	47738114	391781	93	15645											
DIP2A	23181	broad.mit.edu	37	chr21	47954567	47954567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccctgctggcacagtgcCgggctctgacccaggcgtgc	5	7	13	16	2	1	1	0	1	1	0	2	1	2	1	3	3	3	3	3	3	0	0	rs201190474		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47954567C>T	ENST00000417564.2	+	13	1630	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	DIP2A_ENST00000457905.3_Missense_Mutation_p.R537W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R473W|DIP2A_ENST00000466639.1_Missense_Mutation_p.R494W|DIP2A_ENST00000318711.7_Missense_Mutation_p.R538W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R533W|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000435722.3_Missense_Mutation_p.R537W			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	537					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCACAGTGCCGGGCTCTGAC	0.562																																						uc002zjo.2																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1609-1611)Cgg>Tgg		Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,3830		0,2,1914	33	35	35		1417,1480,1597,1609,1609,1609,1609	4.6	1	21		35	7,8241		0,7,4117	yes	missense,missense,missense,missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	101,101,101,101,101,101,101	0,9,6031	TT,TC,CC		0.0849,0.0522,0.0745	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	473/1111,494/799,533/1568,537/1572,537/890,537/842,537/813	47954567	9,12071	1916	4124	6040	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47954567C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1609C>T	21.37:g.47954567C>T	ENSP00000392066:p.Arg537Trp					DIP2A_uc011afy.1_Missense_Mutation_p.R473W|DIP2A_uc011afz.1_Missense_Mutation_p.R533W|DIP2A_uc002zjl.3_Missense_Mutation_p.R537W|DIP2A_uc002zjm.3_Missense_Mutation_p.R537W|DIP2A_uc010gql.3_Missense_Mutation_p.R494W|DIP2A_uc002zjn.3_Missense_Mutation_p.R537W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W|Metazoa_SRP_uc021wkb.1_5'Flank	p.R537W	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	12	1792	+	Breast(49;0.0933)		537					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1609C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917845	0.73098	5.22E-4	8.49E-4	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.43688	0.94;2.78;0.94;2.78;2.78;2.78;0.94	4.62	4.62	0.57501	AMP-dependent synthetase/ligase (1);	0.421766	0.23373	N	0.048891	T	0.59878	0.2226	M	0.83223	2.63	0.39777	D	0.97224	B;B;D;B;B;B	0.65815	0.002;0.077;0.995;0.0;0.029;0.039	B;B;P;B;B;B	0.52710	0.005;0.052;0.707;0.003;0.031;0.025	T	0.69580	-0.5107	10	0.59425	D	0.04	-6.5405	16.61	0.84880	0.0:1.0:0.0:0.0	.	538;473;494;537;537;537	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	W	533;473;538;494;537;494;537;537	ENSP00000383133:R533W;ENSP00000400528:R473W;ENSP00000323633:R538W;ENSP00000393434:R537W;ENSP00000430249:R494W;ENSP00000415089:R537W;ENSP00000392066:R537W	ENSP00000323633:R538W	R	+	1	2	DIP2A	46778995	0.998000	0.40836	0.997000	0.53966	0.937000	0.57800	4.661000	0.61518	2.380000	0.81148	0.591000	0.81541	CGG		0.562	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47954567	C	T	47954567	3	4	223	1	0	0	0	0	1	0	0	0	4527	643	23	2	1659	2	DIP2A	21	47954567	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	216453	47954567	175328	94	15646											
ZMYM3	9203	broad.mit.edu	37	chrX	70469493	70469493	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaatcgctgcagagccGgtgtaccacgctgccattgc	9	7	12	13	3	0	2	0	0	0	2	1	2	0	2	3	1	5	5	3	1	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:70469493G>T	ENST00000353904.2	-	7	1475	c.1288C>A	c.(1288-1290)Cgg>Agg	p.R430R	ZMYM3_ENST00000373978.1_Silent_p.T333T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.R430R|ZMYM3_ENST00000373981.1_Silent_p.R430R|ZMYM3_ENST00000373984.3_Silent_p.R432R|ZMYM3_ENST00000373988.1_Silent_p.R432R|ZMYM3_ENST00000373982.1_Silent_p.R432R|ZMYM3_ENST00000373998.1_Silent_p.R430R	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	430					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCCGGTGTACCACG	0.587																																						uc004dzh.2																			0		p.H429P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1288-1290)Cgg>Agg		Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.							125	82	97					X																	70469493		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469493G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1288C>A	X.37:g.70469493G>T						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.R430R|ZMYM3_uc004dzj.2_Silent_p.R430R|ZMYM3_uc011mpu.2_Silent_p.R161R|ZMYM3_uc004dzl.4_Silent_p.R430R	p.R430R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			6	1467	-	Renal(35;0.156)		430					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.1288C>A	CCDS14409.1																																																																																				0.587	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		T	70469493	G	T	70469493	2	4	223	1	0	0	0	0	0	0	0	1	17698	1115	39	5		5	ZMYM3	23	70469493	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		70469493	84801067	95	15647											
COL4A6	1288	broad.mit.edu	37	chrX	107431199	107431199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattccttggattgtactgAgaattggttcccccttcttt	6	17	8	10	0	1	1	0	1	1	1	3	3	3	2	3	2	1	3	3	2	2	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:107431199A>T	ENST00000372216.4	-	22	1749	c.1649T>A	c.(1648-1650)cTc>cAc	p.L550H	COL4A6_ENST00000334504.7_Missense_Mutation_p.L549H|COL4A6_ENST00000394872.2_Missense_Mutation_p.L550H|COL4A6_ENST00000545689.1_Missense_Mutation_p.L549H|COL4A6_ENST00000538570.1_Missense_Mutation_p.L549H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	550	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATTGTACTGAGAATTGGTTC	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0		p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1648-1650)cTc>cAc		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							97	95	96					X																	107431199		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107431199A>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1649T>A	X.37:g.107431199A>T	ENSP00000361290:p.Leu550His					COL4A6_uc004env.4_Missense_Mutation_p.L549H|COL4A6_uc011msn.2_Missense_Mutation_p.L549H|COL4A6_uc010npk.3_Missense_Mutation_p.L549H	p.L550H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			21	1752	-			550			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1649T>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	A	5.658	0.305998	0.10733	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	5.05	1.07	0.20283	.	1.174900	0.06505	N	0.736934	D	0.88735	0.6517	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.37573	0.545;0.545;0.6;0.545	B;B;P;B	0.45913	0.364;0.364;0.497;0.364	T	0.79738	-0.1677	10	0.15066	T	0.55	.	1.7708	0.03011	0.4976:0.1412:0.0829:0.2783	.	549;549;550;549	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	550;549;550;549;549;549	ENSP00000361290:L550H;ENSP00000334733:L549H;ENSP00000378340:L550H;ENSP00000443707:L549H;ENSP00000445236:L549H	ENSP00000334733:L549H	L	-	2	0	COL4A6	107317855	0.870000	0.30015	0.000000	0.03702	0.078000	0.17371	2.028000	0.41088	-0.023000	0.13963	0.417000	0.27973	CTC		0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107431199	A	T	107431199	3	4	223	1	0	0	0	0	1	0	0	0	3695	304	11	5	3522	5	COL4A6	23	107431199	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	36961706	107431199	47839361	96	15648											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685359	125685359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagaaatcattgtggttGagccagcctctgccacaggc	10	8	10	13	0	2	2	1	1	1	1	2	2	2	2	4	2	3	1	4	2	1	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:125685359G>A	ENST00000371126.1	-	1	1475	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	411										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATTGTGGTTGAGCCAGCCTC	0.552																																						uc022cds.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1231-1233)ctC>ctT		Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.							87	81	83					X																	125685359		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685359G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1233C>T	X.37:g.125685359G>A						DCAF12L1_uc004eul.3_Silent_p.L411L	p.L411L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			0	1233	-			411					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.1233C>T	CCDS14610.1																																																																																				0.552	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		A	125685359	G	A	125685359	2	1	223	1	0	0	0	0	0	0	0	1	4264	1277	45	3		3	DCAF12L1	23	125685359	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	18254160	125685359	29585201	97	15649											
USH2A	7399	broad.mit.edu	37	chr1	215820917	215820917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccgtactgcccacctcgTtgtgtgccaccactctcagc	7	9	8	17	2	1	0	1	0	1	0	3	0	1	0	5	0	5	2	5	0	2	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:215820917T>C	ENST00000307340.3	-	67	15124	c.14738A>G	c.(14737-14739)aAc>aGc	p.N4913S	USH2A_ENST00000366943.2_Missense_Mutation_p.N4913S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4913	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCCACCTCGTTGTGTGCCAC	0.532										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14737-14739)aAc>aGc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							99	81	87					1																	215820917		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215820917T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14738A>G	1.37:g.215820917T>C	ENSP00000305941:p.Asn4913Ser	HNSCC(13;0.011)					p.N4913S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	15125	-			4913			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14738A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307185	0.81247	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59502	0.26;0.26	5.62	3.3	0.37823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000256	T	0.62901	0.2466	M	0.87038	2.855	0.45621	D	0.998558	P	0.36753	0.568	B	0.41332	0.354	T	0.64854	-0.6309	10	0.56958	D	0.05	.	7.8388	0.29387	0.0:0.0719:0.1399:0.7882	.	4913	O75445	USH2A_HUMAN	S	4913	ENSP00000305941:N4913S;ENSP00000355910:N4913S	ENSP00000305941:N4913S	N	-	2	0	USH2A	213887540	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	4.727000	0.61993	0.937000	0.37394	0.528000	0.53228	AAC		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215820917	T	C	215820917	3	2	224	1	0	0	0	0	1	0	0	0	17033	1725	60	4	894	4	USH2A	1	215820917	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		215820917	33429704	1	15650											
TAF1A	9015	broad.mit.edu	37	chr1	222761835	222761835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgcattcctgcaccaCtgagcacagatgtttccact	12	10	7	12	0	0	2	0	1	0	1	2	3	2	2	3	0	3	4	3	0	2	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:222761835C>G	ENST00000352967.4	-	2	259	c.71G>C	c.(70-72)aGt>aCt	p.S24T	TAF1A_ENST00000391882.1_5'UTR|RP11-378J18.3_ENST00000427540.1_RNA|TAF1A_ENST00000350027.4_Missense_Mutation_p.S24T|RP11-378J18.3_ENST00000441835.1_RNA|TAF1A_ENST00000543857.1_Missense_Mutation_p.S24T|RP11-378J18.3_ENST00000413074.1_RNA|TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	24					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCCTGCACCACTGAGCACAGA	0.373																																						uc009xdz.2																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(70-72)aGt>aCt		Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.							202	188	193					1																	222761835		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222761835C>G	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.71G>C	1.37:g.222761835C>G	ENSP00000327072:p.Ser24Thr					TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.S24T|TAF1A_uc010pur.2_Missense_Mutation_p.S24T	p.S24T	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	1	280	-			24					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.71G>C	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	4.831	0.154520	0.09236	.	.	ENSG00000143498	ENST00000350027;ENST00000352967;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.9	4.99	0.66335	.	0.991069	0.08239	N	0.976349	T	0.36799	0.0980	L	0.42686	1.345	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.17098	0.006;0.017	T	0.33803	-0.9854	10	0.08381	T	0.77	-12.6341	13.1621	0.59550	0.0:0.1619:0.8381:0.0	.	24;24	B4DS21;Q15573	.;TAF1A_HUMAN	T	24	ENSP00000339976:S24T;ENSP00000327072:S24T;ENSP00000375755:S24T;ENSP00000437725:S24T	ENSP00000339976:S24T	S	-	2	0	TAF1A	220828458	0.518000	0.26234	0.156000	0.22583	0.078000	0.17371	2.830000	0.48136	1.503000	0.48686	-0.133000	0.14855	AGT		0.373	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		G	222761835	C	G	222761835	3	3	224	1	0	0	0	0	1	0	0	0	15516	565	20	5	1321	5	TAF1A	1	222761835	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	6940918	222761835	26488786	2	15651											
TTN	7273	broad.mit.edu	37	chr2	179640164	179640164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgctggcagagtcctcagCagtcacatctcttatgacca	10	10	9	12	0	3	2	2	1	1	1	5	3	4	2	2	1	2	3	2	1	1	1			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr2:179640164C>G	ENST00000591111.1	-	28	6651	c.6427G>C	c.(6427-6429)Gct>Cct	p.A2143P	TTN_ENST00000589042.1_Missense_Mutation_p.A2143P|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2097P|TTN_ENST00000359218.5_Missense_Mutation_p.A2097P|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2143P|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2143P|TTN_ENST00000342175.6_Missense_Mutation_p.A2097P			Q8WZ42	TITIN_HUMAN	titin	12475	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTCCTCAGCAGTCACATCT	0.443																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6427-6429)Gct>Cct		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							99	95	96					2																	179640164		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640164C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6427G>C	2.37:g.179640164C>G	ENSP00000465570:p.Ala2143Pro					TTN_uc021vsz.1_Missense_Mutation_p.A2097P|TTN_uc021vta.1_Missense_Mutation_p.A2097P|TTN_uc021vtb.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|AK123298_uc002unc.1_5'Flank	p.A2143P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	6652	-			2143			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6427G>C		.	.	.	.	.	.	.	.	.	.	C	10.02	1.235272	0.22626	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.27	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51805	0.1696	N	0.08118	0	0.31963	N	0.60814	B;B;B;B;B	0.18166	0.002;0.002;0.002;0.002;0.026	B;B;B;B;B	0.22601	0.001;0.001;0.002;0.002;0.04	T	0.56062	-0.8041	9	0.87932	D	0	.	11.0861	0.48089	0.2583:0.6171:0.1245:0.0	.	2097;2097;2097;2143;2143	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	2143;2097;2097;2097;2097;2143	ENSP00000343764:A2143P;ENSP00000434586:A2097P;ENSP00000340554:A2097P;ENSP00000352154:A2097P;ENSP00000354117:A2143P	ENSP00000340554:A2097P	A	-	1	0	TTN	179348409	0.989000	0.36119	0.990000	0.47175	0.992000	0.81027	2.240000	0.43088	0.568000	0.29311	0.655000	0.94253	GCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179640164	C	G	179640164	3	3	224	1	0	0	0	0	1	0	0	0	16732	710	25	5	104901	5	TTN	2	179640164	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		179640164	63559209	3	15652											
BCL6	604	broad.mit.edu	37	chr3	187447774	187447774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgaggaactcttcaCgaggaggcttgatggcagaa	10	9	15	7	1	2	3	1	2	1	1	2	6	2	5	0	5	1	4	0	5	2	3	rs536118071		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr3:187447774C>T	ENST00000406870.2	-	5	785	c.419G>A	c.(418-420)cGt>cAt	p.R140H	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R140H|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R140H	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	140					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAACTCTTCACGAGGAGGCTT	0.522			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	uc003frp.3				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(418-420)cGt>cAt		Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.							46	49	48					3																	187447774		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447774C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.419G>A	3.37:g.187447774C>T	ENSP00000384371:p.Arg140His					LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R140H|BCL6_uc010hza.2_Missense_Mutation_p.R38H|BCL6_uc003frq.2_Missense_Mutation_p.R140H	p.R140H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	876	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		140					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.419G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266216	0.40095	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.09817	2.96;2.96;2.94	5.46	4.59	0.56863	.	0.119692	0.64402	N	0.000002	T	0.28995	0.0720	L	0.58101	1.795	0.53688	D	0.99997	D;B	0.89917	1.0;0.008	D;B	0.80764	0.994;0.004	T	0.01675	-1.1298	10	0.59425	D	0.04	.	14.5419	0.68002	0.0:0.9285:0.0:0.0715	.	140;140	B8PSA7;P41182	.;BCL6_HUMAN	H	140	ENSP00000384371:R140H;ENSP00000232014:R140H;ENSP00000413122:R140H	ENSP00000232014:R140H	R	-	2	0	BCL6	188930468	1.000000	0.71417	0.961000	0.40146	0.428000	0.31595	5.733000	0.68571	1.441000	0.47550	-0.201000	0.12746	CGT		0.522	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		T	187447774	C	T	187447774	3	4	224	1	0	0	0	0	1	0	0	0	1376	536	19	1	1725	1	BCL6	3	187447774	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		187447774	10574656	4	15653											
REST	5978	broad.mit.edu	37	chr4	57777086	57777086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaggagaaggacttgaAgagtctgctgatataaaagg	17	7	14	3	0	1	5	0	2	1	3	1	8	1	6	0	3	1	1	0	3	7	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:57777086A>G	ENST00000309042.7	+	2	596	c.282A>G	c.(280-282)gaA>gaG	p.E94E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	94	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAGGACTTGAAGAGTCTGCTG	0.458																																						uc003hch.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(280-282)gaA>gaG		Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.							79	76	77					4																	57777086		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777086A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.282A>G	4.37:g.57777086A>G						REST_uc003hci.3_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.3_5'UTR	p.E94E	NM_005612	NP_005603	Q13127	REST_HUMAN			1	629	+	Glioma(25;0.08)|all_neural(26;0.181)		94			Interaction with SIN3A.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.282A>G	CCDS3509.1																																																																																				0.458	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		G	57777086	A	G	57777086	2	3	224	1	0	0	0	0	0	0	0	1	13234	69	3	4		4	REST	4	57777086	Silent	SNP	A	TCGA-32-1980-01A-01D-1696-08		57777086	133377190	5	15654											
SPARCL1	8404	broad.mit.edu	37	chr4	88415064	88415064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaggccagttttaccctcTtgactctgccattcagtttc	6	16	6	13	0	4	1	1	1	3	0	5	1	4	1	3	1	2	2	3	1	2	6			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:88415064T>C	ENST00000282470.6	-	4	1358	c.888A>G	c.(886-888)caA>caG	p.Q296Q	SPARCL1_ENST00000418378.1_Silent_p.Q296Q|SPARCL1_ENST00000503414.1_Silent_p.Q171Q	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	296					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTACCCTCTTGACTCTGCC	0.418																																						uc010ikm.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(886-888)caA>caG		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							311	300	303					4																	88415064		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415064T>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.888A>G	4.37:g.88415064T>C						SPARCL1_uc011cdc.2_Silent_p.Q171Q|SPARCL1_uc003hqs.4_Silent_p.Q296Q|SPARCL1_uc011cdd.2_Silent_p.Q171Q	p.Q296Q	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	4	1460	-			296					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.888A>G	CCDS3622.1																																																																																				0.418	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			C	88415064	T	C	88415064	2	2	224	1	0	0	0	0	0	0	0	1	14995	1606	56	4		4	SPARCL1	4	88415064	Silent	SNP	T	TCGA-32-1980-01A-01D-1696-08	30637978	88415064	102739212	6	15655											
FAT4	79633	broad.mit.edu	37	chr4	126337603	126337603	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtatgtactgttctacagGtggtggcaagagatgatgat	10	13	14	4	0	1	3	0	2	1	1	1	4	1	3	0	4	2	4	0	4	4	4			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:126337603G>A	ENST00000394329.3	+	6	6857	c.6844G>A	c.(6844-6846)Gtg>Atg	p.V2282M	FAT4_ENST00000335110.5_Splice_Site_p.V580M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2282	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTCTACAGGTGGTGGCAAG	0.368																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.e6-1		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							255	244	248					4																	126337603		2203	4300	6503	SO:0001630	splice_region_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337603G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6844-1G>A	4.37:g.126337603G>A						FAT4_uc011cgp.2_Splice_Site_p.V580_splice	p.V2282_splice	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			6	6844	+			2282			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6844_splice	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772677	0.69992	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.57907	0.37;0.37	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.31233	U	0.008001	T	0.78046	0.4222	M	0.89030	3	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.81801	-0.0766	9	.	.	.	.	18.8224	0.92103	0.0:0.0:1.0:0.0	.	580;2282	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	M	2282;580	ENSP00000377862:V2282M;ENSP00000335169:V580M	.	V	+	1	0	FAT4	126557053	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.532000	0.73825	2.438000	0.82558	0.563000	0.77884	GTG		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	Missense_Mutation	A	126337603	G	A	126337603	5	1	224	1	0	0	0	0	0	0	1	0	5692	1275	44	3	6866	3	FAT4	4	126337603	Splice_Site	SNP	G	TCGA-32-1980-01A-01D-1696-08	37922539	126337603	64816673	7	15656											
NHLRC1	378884	broad.mit.edu	37	chr6	18122155	18122155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcatcagttaccacaatcCcattctgaggggtggtctcc	8	10	9	14	1	3	1	1	1	2	0	5	1	4	1	4	3	1	2	4	3	2	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr6:18122155C>T	ENST00000340650.3	-	1	696	c.683G>A	c.(682-684)gGg>gAg	p.G228E		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	228					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TACCACAATCCCATTCTGAGG	0.532																																						uc003ncl.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(682-684)gGg>gAg		Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.							47	50	49					6																	18122155		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122155C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.683G>A	6.37:g.18122155C>T	ENSP00000345464:p.Gly228Glu						p.G228E	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		0	697	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	228					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.683G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029125	0.02045	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	0.48	0.16804	Six-bladed beta-propeller, TolB-like (1);	0.565214	0.18415	N	0.141944	T	0.43277	0.1240	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.02654	T	1	-7.261	3.8027	0.08764	0.0:0.2754:0.2013:0.5232	.	228	Q6VVB1	NHLC1_HUMAN	E	228	ENSP00000345464:G228E	ENSP00000345464:G228E	G	-	2	0	NHLRC1	18230134	0.000000	0.05858	0.319000	0.25293	0.795000	0.44927	0.497000	0.22514	0.461000	0.27071	0.655000	0.94253	GGG		0.532	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			T	18122155	C	T	18122155	3	4	224	1	0	0	0	0	1	0	0	0	10405	623	22	3	508	3	NHLRC1	6	18122155	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		18122155	152992912	8	15657											
OR9A4	130075	broad.mit.edu	37	chr7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtgaaacccaagcaaaCgcaggcagctgattacaatt	15	7	8	11	2	0	2	0	2	0	0	0	2	0	2	1	1	6	4	1	1	6	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr7:141619469C>T	ENST00000548136.1	+	1	853	c.794C>T	c.(793-795)aCg>aTg	p.T265M	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478																																						uc003vwu.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(793-795)aCg>aTg		Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.							72	76	74					7																	141619469		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619469C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.794C>T	7.37:g.141619469C>T	ENSP00000448789:p.Thr265Met						p.T265M	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			0	794	+	Melanoma(164;0.0171)		265					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.794C>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010659	0.07727	.	.	ENSG00000258083	ENST00000548136	T	0.00137	8.68	3.8	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.72479	2.2	0.09310	N	0.999997	D	0.55800	0.973	P	0.53954	0.738	T	0.46911	-0.9157	9	0.62326	D	0.03	-15.7247	10.6948	0.45892	0.0:0.8123:0.0:0.1877	.	265	Q8NGU2	OR9A4_HUMAN	M	265	ENSP00000448789:T265M	ENSP00000386148:T265M	T	+	2	0	OR9A4	141265938	0.000000	0.05858	0.222000	0.23844	0.062000	0.15995	-1.310000	0.02725	0.081000	0.16988	-0.797000	0.03246	ACG		0.478	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		T	141619469	C	T	141619469	3	4	224	1	0	0	0	0	1	0	0	0	11249	536	19	1	796	1	OR9A4	7	141619469	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		141619469	17519194	9	15658											
ZNF782	158431	broad.mit.edu	37	chr9	99581330	99581330	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagttctctgatgcactggGagggttgaattacggttgaa	9	13	14	5	1	1	4	0	4	1	0	2	5	1	5	0	3	2	4	0	3	3	4			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr9:99581330G>C	ENST00000481138.1	-	6	1636	c.975C>G	c.(973-975)ctC>ctG	p.L325L	ZNF782_ENST00000535338.1_Silent_p.L193L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGCACTGGGAGGGTTGAAT	0.398																																						uc004awp.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(973-975)ctC>ctG		Homo sapiens zinc finger protein 782 (ZNF782), mRNA.							133	128	130					9																	99581330		2203	4300	6503	SO:0001819	synonymous_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581330G>C	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.975C>G	9.37:g.99581330G>C						ZNF782_uc011lup.1_Silent_p.L193L	p.L325L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			5	1256	-		Acute lymphoblastic leukemia(62;0.0527)	325					B2RNR0	Silent	SNP	ENST00000481138.1	37	c.975C>G	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	G	2.297	-0.361108	0.05103	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.52	0.356	0.16074	.	.	.	.	.	T	0.19087	0.0458	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.21245	-1.0251	4	.	.	.	.	0.4244	0.00461	0.2678:0.1954:0.3374:0.1995	.	.	.	.	A	314	.	.	P	-	1	0	ZNF782	98621151	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-2.066000	0.01385	0.072000	0.16694	0.644000	0.83932	CCC		0.398	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		C	99581330	G	C	99581330	2	2	224	1	0	0	0	0	0	0	0	1	18152	1161	41	5		5	ZNF782	9	99581330	Silent	SNP	G	TCGA-32-1980-01A-01D-1696-08		99581330	41632101	10	15659											
ARCN1	372	broad.mit.edu	37	chr11	118461139	118461139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggagttgcatggcatgaTcatgcttaggatctcagatg	10	13	12	6	0	2	2	2	1	1	1	3	4	2	4	0	3	2	4	0	3	2	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:118461139T>A	ENST00000264028.4	+	6	997	c.902T>A	c.(901-903)aTc>aAc	p.I301N	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.I342N|ARCN1_ENST00000392859.3_Missense_Mutation_p.I213N	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	301	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CATGGCATGATCATGCTTAGG	0.393																																						uc009zag.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1024-1026)aTc>aAc		Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.							160	138	145					11																	118461139		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118461139T>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.902T>A	11.37:g.118461139T>A	ENSP00000264028:p.Ile301Asn					ARCN1_uc001ptq.3_Missense_Mutation_p.I301N|ARCN1_uc010ryg.2_Missense_Mutation_p.I213N	p.I342N	NM_001142281	NP_001135753	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	6	1227	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	301			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1025T>A	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730163	0.89390	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.33438	1.41;1.41;1.41	5.86	5.86	0.93980	Clathrin adaptor, mu subunit, C-terminal (3);	0.093339	0.64402	D	0.000001	T	0.51075	0.1653	L	0.56769	1.78	0.80722	D	1	D;D;P	0.59767	0.986;0.971;0.937	D;P;P	0.64321	0.924;0.876;0.672	T	0.51741	-0.8667	10	0.87932	D	0	-6.2803	16.2215	0.82262	0.0:0.0:0.0:1.0	.	213;342;301	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	N	213;342;301	ENSP00000376599:I213N;ENSP00000352385:I342N;ENSP00000264028:I301N	ENSP00000264028:I301N	I	+	2	0	ARCN1	117966349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.315000	0.78998	2.367000	0.80283	0.528000	0.53228	ATC		0.393	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			A	118461139	T	A	118461139	3	1	224	1	0	0	0	0	1	0	0	0	842	1435	50	5	924	5	ARCN1	11	118461139	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		118461139	16545377	11	15660											
KIF21A	55605	broad.mit.edu	37	chr12	39716483	39716483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttacatgctgcctatctTagaaggtaagccaggtgggg	11	10	12	8	0	1	1	0	0	1	1	1	1	1	1	2	4	5	2	2	4	6	4	rs147620197		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr12:39716483T>C	ENST00000361418.5	-	27	3673	c.3658A>G	c.(3658-3660)Aag>Gag	p.K1220E	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000361961.3_Missense_Mutation_p.K1207E|KIF21A_ENST00000544797.2_Missense_Mutation_p.K1200E|KIF21A_ENST00000541463.2_Missense_Mutation_p.K1184E|KIF21A_ENST00000395670.3_Missense_Mutation_p.K1220E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1220					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCCTATCTTAGAAGGTAAG	0.398																																						uc001rly.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3658-3660)Aag>Gag		Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.		T	GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS	0,4406		0,0,2203	110	101	104		3598,3658,3550,3619	3.9	1	12	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KIF21A	NM_001173463.1,NM_001173464.1,NM_001173465.1,NM_017641.3	56,56,56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1200/1638,1220/1675,1184/1622,1207/1662	39716483	1,13005	2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716483T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3658A>G	12.37:g.39716483T>C	ENSP00000354878:p.Lys1220Glu					KIF21A_uc001rlv.3_Missense_Mutation_p.K225E|KIF21A_uc001rlw.3_Missense_Mutation_p.K537E|KIF21A_uc001rlx.3_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.3_Missense_Mutation_p.K1184E|KIF21A_uc010skl.2_Missense_Mutation_p.K1200E	p.K1220E	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN			26	4078	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1220					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3658A>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306566	0.60305	0.0	1.16E-4	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.71222	-0.53;-0.51;0.37;-0.55;-0.42;-0.5	5.09	3.92	0.45320	.	0.107759	0.40818	N	0.001014	T	0.77445	0.4131	L	0.47716	1.5	0.35269	D	0.78029	D;B;P;D;B;B	0.61697	0.972;0.018;0.749;0.99;0.033;0.023	P;B;B;D;B;B	0.72982	0.673;0.034;0.146;0.979;0.061;0.017	T	0.80688	-0.1271	10	0.39692	T	0.17	.	12.1554	0.54074	0.0:0.0:0.1428:0.8572	.	1200;1184;1220;1207;1220;267	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	E	1207;1220;1220;267;261;1200;1220;1184	ENSP00000354851:K1207E;ENSP00000379029:K1220E;ENSP00000448792:K261E;ENSP00000445606:K1200E;ENSP00000354878:K1220E;ENSP00000438075:K1184E	ENSP00000344501:K1220E	K	-	1	0	KIF21A	38002750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.768000	0.68858	0.746000	0.32786	0.533000	0.62120	AAG		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		C	39716483	T	C	39716483	3	2	224	1	0	0	0	0	1	0	0	0	8288	1763	61	4	1414	4	KIF21A	12	39716483	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		39716483	94135412	12	15661											
F10	2159	broad.mit.edu	37	chr13	113803697	113803697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggagagggctgtgccCgtaaggggaagtacgggatc	8	6	20	7	2	0	1	0	0	0	1	1	4	0	3	1	6	2	4	1	6	3	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr13:113803697C>T	ENST00000375559.3	+	8	1371	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGCTGTGCCCGTAAGGGGAA	0.627																																						uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CM010240	F10	M		c.(1333-1335)Cgt>Tgt		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						86	81	82					13																	113803697		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803697C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1333C>T	13.37:g.113803697C>T	ENSP00000364709:p.Arg445Cys					F10_uc001vsy.3_3'UTR	p.R445C	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	1390	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	445			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1333C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661216	0.29515	.	.	ENSG00000126218	ENST00000375559	D	0.89343	-2.5	5.24	-1.69	0.08186	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.573000	0.16404	N	0.215907	D	0.93324	0.7872	M	0.72353	2.195	0.19300	N	0.999976	D	0.89917	1.0	D	0.76575	0.988	D	0.89260	0.3597	10	0.87932	D	0	.	18.9	0.92439	0.2351:0.7649:0.0:0.0	.	445	P00742	FA10_HUMAN	C	445	ENSP00000364709:R445C	ENSP00000364709:R445C	R	+	1	0	F10	112851698	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.323000	0.19593	0.062000	0.16340	-0.397000	0.06425	CGT		0.627	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			T	113803697	C	T	113803697	3	4	224	1	0	0	0	0	1	0	0	0	5336	652	23	2	1363	2	F10	13	113803697	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		113803697	1366181	13	15662											
CFL2	1073	broad.mit.edu	37	chr14	35182132	35182132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatttctctccaagtgtcGaacggtccttaatatcatcc	10	13	5	13	2	2	0	1	0	1	0	7	1	5	0	4	1	1	0	4	1	5	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr14:35182132G>A	ENST00000341223.3	-	4	591	c.440C>T	c.(439-441)tCg>tTg	p.S147L	CFL2_ENST00000298159.6_Missense_Mutation_p.S147L|CFL2_ENST00000556161.1_Missense_Mutation_p.S130L|CFL2_ENST00000555765.1_Missense_Mutation_p.S130L	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	147	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCCAAGTGTCGAACGGTCCTT	0.338																																						uc001wsh.3																			0		p.R146C(1)		breast(3)|endometrium(2)|lung(3)	8						c.(439-441)tCg>tTg		Homo sapiens cofilin 2 (muscle) (CFL2), transcript variant 2, mRNA.							114	112	113					14																	35182132		2203	4300	6503	SO:0001583	missense	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182132G>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"nemaline myopathy type 7"	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.440C>T	14.37:g.35182132G>A	ENSP00000340635:p.Ser147Leu					CFL2_uc001wsg.3_Missense_Mutation_p.S147L|CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsi.3_Non-coding_Transcript|CFL2_uc001wsj.3_Non-coding_Transcript	p.S147L	NM_138638	NP_001230574	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	3	723	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		147			ADF-H.		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	37	c.440C>T	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	G	7.536	0.659741	0.14645	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	6.02	5.12	0.69794	Actin-binding, cofilin/tropomyosin type (3);	0.269957	0.37669	N	0.001986	T	0.39809	0.1092	L	0.52905	1.665	0.39481	D	0.967898	B	0.26602	0.154	B	0.34180	0.177	T	0.25813	-1.0121	10	0.30854	T	0.27	-0.1245	15.8916	0.79303	0.0:0.3786:0.6214:0.0	.	147	Q9Y281	COF2_HUMAN	L	147;147;130;130	ENSP00000340635:S147L;ENSP00000298159:S147L;ENSP00000452451:S130L;ENSP00000452188:S130L	ENSP00000298159:S147L	S	-	2	0	CFL2	34251883	0.970000	0.33590	0.837000	0.33122	0.988000	0.76386	1.715000	0.37971	1.544000	0.49359	-0.175000	0.13238	TCG		0.338	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		A	35182132	G	A	35182132	3	1	224	1	0	0	0	0	1	0	0	0	3291	1059	37	2	64	2	CFL2	14	35182132	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		35182132	72167408	14	15663											
NF1	4763	broad.mit.edu	37	chr17	29663349	29663349	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttattttccttcttcaactAgattacagatctgcttgatg	9	18	6	8	0	3	3	1	1	2	2	4	3	4	3	1	0	3	2	1	0	4	8			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr17:29663349A>G	ENST00000358273.4	+	41	6389		c.e41-1		NF1_ENST00000444181.2_5'Flank|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTCAACTAGATTACAGAT	0.323			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS000881	NF1	S		c.e41-2		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							78	71	73					17																	29663349		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663349A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6007-1A>G	17.37:g.29663349A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.I2003_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6390	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2003					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.6007_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277778	0.59758	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5002	0.75691	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26687475	1.000000	0.71417	0.943000	0.38184	0.856000	0.48823	8.838000	0.92115	2.302000	0.77476	0.533000	0.62120	.		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	G	29663349	A	G	29663349	5	3	224	1	0	0	0	0	0	0	1	0	10356	434	15	4	6228	4	NF1	17	29663349	Splice_Site	SNP	A	TCGA-32-1980-01A-01D-1696-08		29663349	51531861	15	15664											
MUC16	94025	broad.mit.edu	37	chr19	9075072	9075072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtaaatctctgagtcGtagccagtggagtccctgtc	9	12	11	9	1	1	1	0	1	1	0	5	2	2	2	2	1	1	3	2	1	4	3	rs577056863		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:9075072G>A	ENST00000397910.4	-	3	12577	c.12374C>T	c.(12373-12375)aCg>aTg	p.T4125M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4127	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAGTCGTAGCCAGTGG	0.502													A|||	1	0.000199681	0	0	5008	,	,		22208	0		0	False		,,,				2504	0.001					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12373-12375)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							114	110	111					19																	9075072		2081	4195	6276	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075072G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12374C>T	19.37:g.9075072G>A	ENSP00000381008:p.Thr4125Met						p.T4125M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	12578	-			4127			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12374C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.811	-0.039806	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	1.77	-2.13	0.07144	.	.	.	.	.	T	0.06554	0.0168	N	0.02011	-0.69	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	8	0.87932	D	0	.	2.4354	0.04481	0.2885:0.0:0.3028:0.4086	.	4125	B5ME49	.	M	4125	ENSP00000381008:T4125M	ENSP00000381008:T4125M	T	-	2	0	MUC16	8936072	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-1.601000	0.02081	-1.384000	0.02103	-0.817000	0.03123	ACG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9075072	G	A	9075072	3	1	224	1	0	0	0	0	1	0	0	0	9973	1145	40	1	31477	1	MUC16	19	9075072	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		9075072	50053911	16	15665											
YJEFN3	374887	broad.mit.edu	37	chr19	19645858	19645858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggcgttcccgttgcccGctctctcccggaagcagagg	6	7	12	16	4	1	1	0	0	1	1	4	2	3	2	4	3	2	4	4	3	1	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:19645858G>A	ENST00000514277.4	+	4	372	c.334G>A	c.(334-336)Gct>Act	p.A112T	YJEFN3_ENST00000608404.1_Missense_Mutation_p.A111T|YJEFN3_ENST00000436027.5_Missense_Mutation_p.A62T|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.A111T	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	112	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CCCGTTGCCCGCTCTCTCCCG	0.647																																						uc002nmt.2																			0				NS(1)|breast(1)|lung(3)	5						c.(334-336)Gct>Act		Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							93	108	103					19																	19645858		2099	4230	6329	SO:0001583	missense	51079							g.chr19:19645858G>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.334G>A	19.37:g.19645858G>A	ENSP00000426964:p.Ala112Thr					YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.A111T|YJEFN3_uc010ecf.2_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.2_Non-coding_Transcript	p.A112T	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN			3	406	+			112			YjeF N-terminal.		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.334G>A	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450699	0.26074	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.64438	0.98;0.98;-0.1	4.53	0.612	0.17591	YjeF-related protein, N-terminal (5);	0.325077	0.33272	N	0.005090	T	0.30198	0.0757	N	0.04705	-0.18	0.09310	N	1	B;B;B	0.18610	0.021;0.023;0.029	B;B;B	0.12837	0.008;0.005;0.006	T	0.07927	-1.0747	10	0.20046	T	0.44	-0.0428	3.1346	0.06435	0.2215:0.0:0.4002:0.3783	.	111;62;112	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	T	111;112;62;112;62;111	ENSP00000398520:A62T;ENSP00000426964:A112T;ENSP00000452549:A111T	ENSP00000389732:A111T	A	+	1	0	YJEFN3;CTC-260F20.3	19506858	0.420000	0.25457	0.007000	0.13788	0.560000	0.35617	1.466000	0.35310	0.377000	0.24735	0.650000	0.86243	GCT		0.647	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		A	19645858	G	A	19645858	3	1	224	1	0	0	0	0	1	0	0	0	17481	1087	38	1	348	1	YJEFN3	19	19645858	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08	10570786	19645858	39483125	17	15666											
NLRP4	147945	broad.mit.edu	37	chr19	56379119	56379119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgattgtgaagtccttgCtggccttctaaccaacaaca	11	12	7	11	0	1	2	0	2	1	0	2	2	2	2	3	1	4	1	3	1	4	5			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:56379119C>T	ENST00000301295.6	+	6	2653	c.2231C>T	c.(2230-2232)gCt>gTt	p.A744V	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.A669V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	744					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGTCCTTGCTGGCCTTCTA	0.483																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2230-2232)gCt>gTt		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							207	166	180					19																	56379119		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56379119C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2231C>T	19.37:g.56379119C>T	ENSP00000301295:p.Ala744Val					NLRP4_uc002qmf.3_Missense_Mutation_p.A669V|NLRP4_uc010etf.3_Intron	p.A744V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	5	2653	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	744					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2231C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316513	0.23908	.	.	ENSG00000160505	ENST00000301295	T	0.15487	2.42	3.13	0.918	0.19386	.	.	.	.	.	T	0.17238	0.0414	M	0.70275	2.135	0.09310	N	1	P;P	0.41008	0.735;0.495	B;B	0.38880	0.284;0.147	T	0.17107	-1.0380	9	0.54805	T	0.06	.	3.6835	0.08319	0.2426:0.6242:0.0:0.1332	.	669;744	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	V	744	ENSP00000301295:A744V	ENSP00000301295:A744V	A	+	2	0	NLRP4	61070931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.172000	0.16704	0.325000	0.23359	0.411000	0.27672	GCT		0.483	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56379119	C	T	56379119	3	4	224	1	0	0	0	0	1	0	0	0	10479	797	28	3	2249	3	NLRP4	19	56379119	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	36733261	56379119	2749864	18	15667											
PCNT	5116	broad.mit.edu	37	chr21	47845820	47845820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttgcacccccaagcggcGagccacacccaccccggaag	9	2	10	20	3	0	0	0	0	0	0	0	2	0	1	7	2	3	1	7	2	2	1			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr21:47845820G>A	ENST00000359568.5	+	33	7362	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2419					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAAGCGGCGAGCCACACCC	0.577																																						uc002zji.4																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7255-7257)Gag>Aag		Homo sapiens pericentrin (PCNT), mRNA.							81	80	80					21																	47845820		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47845820G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7255G>A	21.37:g.47845820G>A	ENSP00000352572:p.Glu2419Lys					PCNT_uc002zjj.3_Missense_Mutation_p.E2301K	p.E2419K	NM_006031	NP_006022	O95613	PCNT_HUMAN			32	7362	+	Breast(49;0.112)		2419					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7255G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217485	0.39201	.	.	ENSG00000160299	ENST00000359568	T	0.01629	4.72	2.36	1.46	0.22682	.	.	.	.	.	T	0.03053	0.0090	L	0.55990	1.75	0.09310	N	1	P;D	0.69078	0.944;0.997	B;P	0.50440	0.249;0.641	T	0.47195	-0.9136	9	0.26408	T	0.33	.	5.2293	0.15412	0.1708:0.0:0.8292:0.0	.	2301;2419	O95613-2;O95613	.;PCNT_HUMAN	K	2419	ENSP00000352572:E2419K	ENSP00000352572:E2419K	E	+	1	0	PCNT	46670248	0.741000	0.28217	0.031000	0.17742	0.045000	0.14185	1.827000	0.39102	0.531000	0.28639	0.655000	0.94253	GAG		0.577	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47845820	G	A	47845820	3	1	224	1	0	0	0	0	1	0	0	0	11590	1059	37	2	7385	2	PCNT	21	47845820	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		47845820	284075	19	15668											
MACF1	23499	broad.mit.edu	37	chr1	39750772	39750772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgtggattgaatttggCcgaattaaactgcctcaagg	11	11	12	7	1	1	1	1	1	0	0	1	3	1	2	2	4	2	0	2	4	5	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:39750772C>T	ENST00000372915.3	+	11	1251	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	MACF1_ENST00000567887.1_Silent_p.G420G|MACF1_ENST00000564288.1_Silent_p.G383G|MACF1_ENST00000539005.1_Silent_p.G388G|MACF1_ENST00000317713.7_Silent_p.G388G|MACF1_ENST00000545844.1_Silent_p.G388G|MACF1_ENST00000361689.2_Silent_p.G388G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	388					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAATTTGGCCGAATTAAAC	0.433																																						uc021olt.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1162-1164)ggC>ggT		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							175	168	170					1																	39750772		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39750772C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1164C>T	1.37:g.39750772C>T						MACF1_uc021ols.1_Silent_p.G388G|MACF1_uc001cdc.2_Silent_p.G388G|MACF1_uc001cda.1_Silent_p.G296G	p.G388G	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	1216	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	388					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.1164C>T																																																																																					0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39750772	C	T	39750772	2	4	225	1	0	0	0	0	0	0	0	1	9144	726	26	3		3	MACF1	1	39750772	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		39750772	209499849	1	15669											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473561	145473561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcgcagaccgattagggcGcacggcgctcatgcacgctt	8	8	12	13	6	1	1	1	0	0	1	2	2	1	1	1	2	1	5	1	2	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:145473561G>A	ENST00000323397.4	+	4	1526	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	78						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGATTAGGGCGCACGGCGCTC	0.706																																						uc021ouy.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(232-234)cGc>cAc		Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.							57	59	58					1																	145473561		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145473561G>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.233G>A	1.37:g.145473561G>A	ENSP00000314103:p.Arg78His					ANKRD34A_uc001enq.1_Missense_Mutation_p.R78H	p.R78H	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			0	233	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		78					B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.233G>A	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299952	0.81136	.	.	ENSG00000181039	ENST00000323397	T	0.66280	-0.2	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.929818	0.08975	N	0.866703	T	0.71195	0.3311	M	0.74881	2.28	0.40421	D	0.979846	D	0.89917	1.0	D	0.68353	0.957	T	0.68032	-0.5516	10	0.52906	T	0.07	-11.0439	9.4852	0.38924	0.0935:0.0:0.9065:0.0	.	78	Q69YU3	AN34A_HUMAN	H	78	ENSP00000314103:R78H	ENSP00000314103:R78H	R	+	2	0	ANKRD34A	144184918	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.834000	0.69361	2.658000	0.90341	0.491000	0.48974	CGC		0.706	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			A	145473561	G	A	145473561	3	1	225	1	0	0	0	0	1	0	0	0	662	1087	38	1	235	1	ANKRD34A	1	145473561	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	105722789	145473561	103777060	2	15670											
MTMR11	10903	broad.mit.edu	37	chr1	149901667	149901667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaggctttcagaggagaTagcaggtcgagggagccaac	12	5	15	9	1	1	2	1	0	0	2	2	5	1	3	2	4	4	2	2	4	2	2	rs375433690		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:149901667T>C	ENST00000439741.2	-	16	2039	c.1789A>G	c.(1789-1791)Atc>Gtc	p.I597V	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I525V|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	597	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAGAGGAGATAGCAGGTCGA	0.597																																						uc001etl.4																			0		p.L597delL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1789-1791)Atc>Gtc		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.		T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	57	62	60		1573,1789	2.7	1	1		60	0,8600		0,0,4300	no	missense,missense	MTMR11	NM_181873.3,NM_001145862.1	29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	525/641,597/710	149901667	1,13005	2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149901667T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1789A>G	1.37:g.149901667T>C	ENSP00000391668:p.Ile597Val					SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.I525V	p.I597V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		15	2040	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		597			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1789A>G	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046921	0.19748	2.27E-4	0.0	ENSG00000014914	ENST00000369140;ENST00000439741	T;T	0.41758	0.99;0.99	5.13	2.74	0.32292	Myotubularin phosphatase domain (1);	0.681858	0.14583	N	0.310761	T	0.08223	0.0205	N	0.08118	0	0.34517	D	0.707745	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.13575	-1.0504	10	0.29301	T	0.29	.	6.1005	0.20045	0.0:0.2227:0.0:0.7773	.	525;597	A4FU01-4;A4FU01	.;MTMRB_HUMAN	V	525;597	ENSP00000358136:I525V;ENSP00000391668:I597V	ENSP00000358136:I525V	I	-	1	0	MTMR11	148168291	0.008000	0.16893	0.992000	0.48379	0.997000	0.91878	-0.074000	0.11450	0.967000	0.38186	0.533000	0.62120	ATC		0.597	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		C	149901667	T	C	149901667	3	2	225	1	0	0	0	0	1	0	0	0	9940	1406	49	4	387	4	MTMR11	1	149901667	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	4428106	149901667	99348954	3	15671											
LYST	1130	broad.mit.edu	37	chr1	235993676	235993676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaagccggttgacatcGgtcagaaattcacgtgccag	11	9	11	10	3	2	2	2	1	0	1	3	2	2	2	2	2	3	2	2	2	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:235993676G>A	ENST00000389794.3	-	3	216	c.42C>T	c.(40-42)acC>acT	p.T14T	LYST_ENST00000389793.2_Silent_p.T14T|LYST_ENST00000536965.1_Silent_p.T14T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	14					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTTGACATCGGTCAGAAATT	0.458																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(40-42)acC>acT		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							71	67	68					1																	235993676		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235993676G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.42C>T	1.37:g.235993676G>A						LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.3_Non-coding_Transcript|LYST_uc001hxn.1_Silent_p.T14T	p.T14T	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		2	217	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	14					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.42C>T	CCDS31062.1																																																																																				0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235993676	G	A	235993676	2	1	225	1	0	0	0	0	0	0	0	1	9128	1103	39	2		2	LYST	1	235993676	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	86092009	235993676	13256945	4	15672											
OR2AK2	391191	broad.mit.edu	37	chr1	248128698	248128698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaaaacaggaaatcaaaGttttgggacagattttctac	16	11	8	6	0	2	2	1	1	1	1	2	4	2	4	0	2	2	1	0	2	5	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248128698G>A	ENST00000366480.3	+	1	164	c.65G>A	c.(64-66)aGt>aAt	p.S22N	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATCAAAGTTTTGGGACA	0.363																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.2																			0		p.S22R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(64-66)aGt>aAt		Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.							132	126	128					1																	248128698		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128698G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.65G>A	1.37:g.248128698G>A	ENSP00000355436:p.Ser22Asn					OR2L13_uc001ids.3_Intron	p.S22N	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	65	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		22					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.65G>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	9.904	1.207669	0.22205	.	.	ENSG00000187080	ENST00000366480	T	0.54071	0.59	2.96	-5.67	0.02444	.	.	.	.	.	T	0.42291	0.1196	L	0.55017	1.72	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.48269	-0.9050	9	0.66056	D	0.02	.	8.5896	0.33679	0.2254:0.5873:0.1872:0.0	.	22	Q8NG84	O2AK2_HUMAN	N	22	ENSP00000355436:S22N	ENSP00000355436:S22N	S	+	2	0	OR2AK2	246195321	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.113000	0.03296	-0.717000	0.04955	-0.350000	0.07774	AGT		0.363	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		A	248128698	G	A	248128698	3	1	225	1	0	0	0	0	1	0	0	0	10986	1029	36	3	67	3	OR2AK2	1	248128698	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	12135022	248128698	1121923	5	15673											
OR2T33	391195	broad.mit.edu	37	chr1	248436720	248436720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacagctgccagctcatgaGagtgggatatcggagtgggt	9	8	16	8	1	1	1	1	1	0	1	2	4	1	3	1	3	3	3	1	3	1	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248436720G>A	ENST00000318021.2	-	1	418	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCATGAGAGTGGGATAT	0.592																																						uc010pzi.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(397-399)Ctc>Ttc		Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.							79	79	79					1																	248436720		2203	4299	6502	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436720G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.397C>T	1.37:g.248436720G>A	ENSP00000324687:p.Leu133Phe						p.L133F	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	397	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		133					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.397C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.533	0.098852	0.08681	.	.	ENSG00000177212	ENST00000318021	T	0.01379	4.96	2.7	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.272209	0.19515	U	0.112405	T	0.03608	0.0103	M	0.91406	3.205	0.21290	N	0.999731	P	0.35959	0.53	B	0.36418	0.224	T	0.12811	-1.0533	10	0.72032	D	0.01	.	7.5789	0.27952	0.0:0.0:0.4548:0.5451	.	133	Q8NG76	O2T33_HUMAN	F	133	ENSP00000324687:L133F	ENSP00000324687:L133F	L	-	1	0	OR2T33	246503343	0.000000	0.05858	0.260000	0.24451	0.044000	0.14063	-2.597000	0.00894	1.437000	0.47472	0.494000	0.49563	CTC		0.592	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		A	248436720	G	A	248436720	3	1	225	1	0	0	0	0	1	0	0	0	11024	942	33	3	568	3	OR2T33	1	248436720	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	308022	248436720	813901	6	15674											
TPO	7173	broad.mit.edu	37	chr2	1544411	1544411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccatctcggagacaggCggaggaactcccgagctgag	9	5	14	13	3	1	2	0	1	1	1	3	6	2	4	2	4	3	1	2	4	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:1544411C>T	ENST00000345913.4	+	16	2755	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	TPO_ENST00000346956.3_Silent_p.G844G|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000382201.3_Silent_p.G831G|TPO_ENST00000382198.1_Silent_p.G715G|TPO_ENST00000329066.4_Silent_p.G888G|TPO_ENST00000349624.3_Silent_p.G715G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	888					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.G888G(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGACAGGCGGAGGAACTC	0.642																																						uc002qwr.3																			1	Substitution - coding silent(1)	p.G888G(2)	breast(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2662-2664)ggC>ggT		Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						90	76	81					2																	1544411		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1544411C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2664C>T	2.37:g.1544411C>T						TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G888G|TPO_uc002qwx.3_Silent_p.G831G|TPO_uc002qwu.3_Silent_p.G831G|TPO_uc010yio.2_Silent_p.G715G|TPO_uc010yip.2_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.3_Intron	p.G888G	NM_001206744	NP_001193673	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	15	2750	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	888					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.2664C>T	CCDS1643.1																																																																																				0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1544411	C	T	1544411	2	4	225	1	0	0	0	0	0	0	0	1	16407	755	27	1		1	TPO	2	1544411	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		1544411	241654962	7	15675											
ALLC	55821	broad.mit.edu	37	chr2	3730599	3730599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggaaaccctgcttccgGccacaactattttcttgtca	9	11	7	14	1	2	0	1	0	1	0	3	1	3	1	4	2	3	1	4	2	3	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:3730599G>A	ENST00000252505.3	+	7	608	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	168					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCTGCTTCCGGCCACAACTAT	0.438										HNSCC(21;0.051)																												uc010ewt.3																			0		p.S148S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(445-447)gGc>gAc		Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.							171	175	174					2																	3730599		1948	4145	6093	SO:0001583	missense	55821						allantoicase activity	g.chr2:3730599G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.446G>A	2.37:g.3730599G>A	ENSP00000252505:p.Gly149Asp	HNSCC(21;0.051)					p.G149D	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	6	607	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	168					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.446G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943951	0.18281	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.44	4.54	0.55810	Allantoicase domain (1);Galactose-binding domain-like (1);	0.119500	0.85682	D	0.000000	T	0.28532	0.0706	N	0.19112	0.55	0.25636	N	0.986257	B	0.23891	0.093	B	0.27380	0.079	T	0.11518	-1.0584	9	0.24483	T	0.36	-14.999	12.7629	0.57374	0.0852:0.0:0.9148:0.0	.	168	Q8N6M5	ALLC_HUMAN	D	149	.	ENSP00000252505:G149D	G	+	2	0	ALLC	3708474	1.000000	0.71417	0.964000	0.40570	0.855000	0.48748	5.089000	0.64492	2.703000	0.92315	0.591000	0.81541	GGC		0.438	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			A	3730599	G	A	3730599	3	1	225	1	0	0	0	0	1	0	0	0	534	1203	42	3	468	3	ALLC	2	3730599	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	2186188	3730599	239468774	8	15676											
APOB	338	broad.mit.edu	37	chr2	21256280	21256280	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctctggatattttgctCagagatggttagttttttca	8	18	9	6	0	3	1	2	0	1	1	4	3	3	2	0	2	2	4	0	2	2	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:21256280C>A	ENST00000233242.1	-	9	1142	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	APOB_ENST00000399256.4_Nonsense_Mutation_p.E339*	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	339	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATTTTGCTCAGAGATGGTT	0.468																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CD076733	APOB	D		c.(1015-1017)Gag>Tag		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						161	155	157					2																	21256280		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21256280C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1015G>T	2.37:g.21256280C>A	ENSP00000233242:p.Glu339*						p.E339*	NM_000384	NP_000375	P04114	APOB_HUMAN			8	1143	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		339			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.1015G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711174	0.89112	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.53	5.53	0.82687	.	0.205916	0.33401	N	0.004952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.672	0.77286	0.0:0.8253:0.1747:0.0	.	.	.	.	X	339	.	ENSP00000233242:E339X	E	-	1	0	APOB	21109785	1.000000	0.71417	0.974000	0.42286	0.131000	0.20780	4.262000	0.58847	2.768000	0.95171	0.655000	0.94253	GAG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21256280	C	A	21256280	4	1	225	1	0	0	0	0	0	1	0	0	785	835	29	5	12760	5	APOB	2	21256280	Nonsense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	17525681	21256280	221943093	9	15677											
C2orf71	388939	broad.mit.edu	37	chr2	29294478	29294478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagggggctcacagaggCcctcagctttggggaagccc	7	6	15	13	0	2	1	2	0	0	1	3	2	3	2	3	5	2	2	3	5	1	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:29294478C>T	ENST00000331664.5	-	1	2649	c.2650G>A	c.(2650-2652)Gcc>Acc	p.A884T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	884					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCACAGAGGCCCTCAGCTTT	0.657																																						uc002rmt.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(2650-2652)Gcc>Acc		Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.							28	32	31					2																	29294478		1923	4120	6043	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294478C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2650G>A	2.37:g.29294478C>T	ENSP00000332809:p.Ala884Thr						p.A884T	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			0	2650	-			884						Missense_Mutation	SNP	ENST00000331664.5	37	c.2650G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911393	0.52439	.	.	ENSG00000179270	ENST00000331664	T	0.25414	1.8	5.55	4.66	0.58398	.	0.206216	0.40302	N	0.001122	T	0.25457	0.0619	L	0.51422	1.61	0.34336	D	0.688178	P	0.52316	0.952	B	0.43301	0.415	T	0.41251	-0.9519	10	0.56958	D	0.05	-8.3909	11.0208	0.47718	0.0:0.8562:0.0:0.1438	.	884	A6NGG8	CB071_HUMAN	T	884	ENSP00000332809:A884T	ENSP00000332809:A884T	A	-	1	0	C2orf71	29147982	1.000000	0.71417	0.962000	0.40283	0.206000	0.24218	4.159000	0.58157	2.596000	0.87737	0.591000	0.81541	GCC		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		T	29294478	C	T	29294478	3	4	225	1	0	0	0	0	1	0	0	0	2191	739	26	3	1224	3	C2orf71	2	29294478	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8038198	29294478	213904895	10	15678											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631538	128631538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggcagttccattaggccGgggaagagggctcagcgctc	7	8	16	10	2	1	1	1	0	0	1	3	2	2	2	2	5	1	5	2	5	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:128631538G>A	ENST00000272647.5	-	3	531	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.R91W	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	91										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CCATTAGGCCGGGGAAGAGGG	0.547																																						uc002tpl.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(271-273)Cgg>Tgg		Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.							153	147	149					2																	128631538		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631538G>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.271C>T	2.37:g.128631538G>A	ENSP00000272647:p.Arg91Trp					AMMECR1L_uc002tpm.3_Missense_Mutation_p.R91W	p.R91W	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	2	522	-	Colorectal(110;0.1)		91					B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.271C>T	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612283	0.66672	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.51	0.55191	.	0.000000	0.64402	D	0.000001	T	0.28034	0.0691	N	0.14661	0.345	0.51233	D	0.999917	D	0.55385	0.971	B	0.35312	0.2	T	0.07868	-1.0750	9	0.38643	T	0.18	-12.1256	15.6155	0.76764	0.0:0.0:0.8614:0.1386	.	91	Q6DCA0	AMERL_HUMAN	W	91	.	ENSP00000272647:R91W	R	-	1	2	AMMECR1L	128348008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.045000	0.76585	1.273000	0.44346	0.655000	0.94253	CGG		0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		A	128631538	G	A	128631538	3	1	225	1	0	0	0	0	1	0	0	0	579	1115	39	2	685	2	AMMECR1L	2	128631538	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	99337060	128631538	114567835	11	15679											
TTN	7273	broad.mit.edu	37	chr2	179457195	179457195	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccatcttcatgggcagcaTtacgaatttcaagcttgcta	11	12	7	11	1	3	0	2	0	1	0	3	1	3	0	1	1	4	4	1	1	4	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179457195T>G	ENST00000591111.1	-	251	54838	c.54614A>C	c.(54613-54615)aAt>aCt	p.N18205T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N10973T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N10906T|TTN_ENST00000589042.1_Missense_Mutation_p.N19846T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N17278T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N10781T			Q8WZ42	TITIN_HUMAN	titin	18205	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGCAGCATTACGAATTTC	0.378																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(51832-51834)aAt>aCt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							251	232	238					2																	179457195		1885	4110	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457195T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54614A>C	2.37:g.179457195T>G	ENSP00000465570:p.Asn18205Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N10973T|TTN_uc021vta.1_Missense_Mutation_p.N10906T|TTN_uc021vtb.1_Missense_Mutation_p.N10781T	p.N17278T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		249	52058	-			18205			Fibronectin type-III 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51833A>C		.	.	.	.	.	.	.	.	.	.	T	10.67	1.414179	0.25465	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54367	0.1854	L	0.49699	1.58	0.37864	D	0.92981	D;D;D;D	0.53312	0.959;0.959;0.959;0.959	P;P;P;P	0.50049	0.551;0.551;0.551;0.629	T	0.62492	-0.6843	9	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	10781;10906;10973;18205	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17278;10781;10973;10906;10779	ENSP00000343764:N17278T;ENSP00000434586:N10781T;ENSP00000340554:N10973T;ENSP00000352154:N10906T	ENSP00000340554:N10973T	N	-	2	0	TTN	179165441	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.477000	0.45180	2.313000	0.78055	0.455000	0.32223	AAT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179457195	T	G	179457195	3	3	225	1	0	0	0	0	1	0	0	0	16732	1493	52	5	48690	5	TTN	2	179457195	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	50825657	179457195	63742178	12	15680											
TTN	7273	broad.mit.edu	37	chr2	179476881	179476881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggcgtagggtggtcCaggagtggctgaaaataaaa	12	7	16	6	1	0	1	0	1	0	0	1	2	1	2	2	5	1	2	2	5	5	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179476881C>T	ENST00000591111.1	-	217	45558	c.45334G>A	c.(45334-45336)Gga>Aga	p.G15112R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7880R|TTN_ENST00000359218.5_Missense_Mutation_p.G7813R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G16753R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14185R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7688R			Q8WZ42	TITIN_HUMAN	titin	15112					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGGTGGTCCAGGAGTGGCT	0.428																																						uc021vsy.1																			0		p.V14184_T14185delVT(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42553-42555)Gga>Aga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							72	65	67					2																	179476881		1890	4103	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476881C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45334G>A	2.37:g.179476881C>T	ENSP00000465570:p.Gly15112Arg					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7880R|TTN_uc021vta.1_Missense_Mutation_p.G7813R|TTN_uc021vtb.1_Missense_Mutation_p.G7688R	p.G14185R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		215	42778	-			15112			Fibronectin type-III 2.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.42553G>A		.	.	.	.	.	.	.	.	.	.	C	14.70	2.615032	0.46631	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.17	6.17	0.99709	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80008	0.4545	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82076	-0.0636	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	7688;7813;7880;15112	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	14185;7688;7880;7813;7688	ENSP00000343764:G14185R;ENSP00000434586:G7688R;ENSP00000340554:G7880R;ENSP00000352154:G7813R	ENSP00000340554:G7880R	G	-	1	0	TTN	179185126	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179476881	C	T	179476881	3	4	225	1	0	0	0	0	1	0	0	0	16732	603	21	3	57820	3	TTN	2	179476881	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	19686	179476881	63722492	13	15681											
DNAH7	56171	broad.mit.edu	37	chr2	196681639	196681639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctaatatattgccttcCgaagatgaaagaacttctaa	14	14	5	8	1	3	3	0	1	3	2	4	4	4	3	2	0	2	0	2	0	7	8	rs375959193		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:196681639C>T	ENST00000312428.6	-	51	9574	c.9474G>A	c.(9472-9474)tcG>tcA	p.S3158S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3158	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTGCCTTCCGAAGATGAAA	0.323																																						uc002utj.4																			0		p.S3158L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9472-9474)tcG>tcA		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.		C		0,3612		0,0,1806	54	54	54		9474	-1.6	1	2		54	1,8147		0,1,4073	no	coding-synonymous	DNAH7	NM_018897.2		0,1,5879	TT,TC,CC		0.0123,0.0,0.0085		3158/4025	196681639	1,11759	1806	4074	5880	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681639C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9474G>A	2.37:g.196681639C>T							p.S3158S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			50	9575	-			3158			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.9474G>A	CCDS42794.1																																																																																				0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196681639	C	T	196681639	2	4	225	1	0	0	0	0	0	0	0	1	4606	639	23	2		2	DNAH7	2	196681639	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	17204758	196681639	46517734	14	15682											
CHDH	55349	broad.mit.edu	37	chr3	53856599	53856599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgctcacaagcgtctcGgcctcggccttgaggttggt	5	10	12	14	3	2	1	1	1	1	0	4	1	2	1	3	4	2	2	3	4	1	2	rs199770725		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:53856599G>A	ENST00000315251.6	-	4	1211	c.774C>T	c.(772-774)gcC>gcT	p.A258A		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	258					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAAGCGTCTCGGCCTCGGCCT	0.632																																						uc003dgz.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(772-774)gcC>gcT		Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	Choline(DB00122)						105	85	92					3																	53856599		2203	4300	6503	SO:0001819	synonymous_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53856599G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.774C>T	3.37:g.53856599G>A							p.A258A	NM_018397	NP_060867	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	1215	-		Hepatocellular(537;0.152)	258					Q9NY17	Silent	SNP	ENST00000315251.6	37	c.774C>T	CCDS2873.1																																																																																				0.632	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		A	53856599	G	A	53856599	2	1	225	1	0	0	0	0	0	0	0	1	3333	1103	39	2		2	CHDH	3	53856599	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		53856599	144165831	15	15683											
SULT1B1	27284	broad.mit.edu	37	chr4	70615520	70615520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccggggtgatggattcttCtccaattgttctatacctga	8	15	9	9	1	3	2	0	2	3	0	5	3	4	3	3	3	1	1	3	3	3	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:70615520C>G	ENST00000310613.3	-	4	591	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGGATTCTTCTCCAATTGTT	0.383																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(292-294)gaG>gaC		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							133	137	136					4																	70615520		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70615520C>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.294G>C	4.37:g.70615520C>G	ENSP00000308770:p.Glu98Asp						p.E98D	NM_014465	NP_055280	O43704	ST1B1_HUMAN			3	592	-			98					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.294G>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	9.315	1.056687	0.19907	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	D;D	0.81996	-1.56;-1.56	4.69	-0.399	0.12415	Sulfotransferase domain (1);	0.355876	0.23710	N	0.045328	T	0.67287	0.2877	L	0.37466	1.105	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47471	-0.9115	10	0.21014	T	0.42	.	3.7007	0.08382	0.1841:0.2871:0.0:0.5288	.	98	O43704	ST1B1_HUMAN	D	98	ENSP00000308770:E98D;ENSP00000425464:E98D	ENSP00000308770:E98D	E	-	3	2	SULT1B1	70650109	0.000000	0.05858	0.002000	0.10522	0.202000	0.24057	-1.400000	0.02504	-0.056000	0.13221	0.460000	0.39030	GAG		0.383	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		G	70615520	C	G	70615520	3	3	225	1	0	0	0	0	1	0	0	0	15373	912	32	5	616	5	SULT1B1	4	70615520	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		70615520	120538756	16	15684											
PRKG2	5593	broad.mit.edu	37	chr4	82074799	82074799	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttaattaatagttaccTttccttttgccaaaatgaaa	14	17	4	6	0	0	1	0	1	0	0	1	1	1	1	3	0	2	2	3	0	7	8			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:82074799T>C	ENST00000395578.1	-	7	1105	c.989A>G	c.(988-990)aAg>aGg	p.K330R	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Splice_Site_p.K330R|PRKG2_ENST00000418486.2_Splice_Site_p.K330R|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	330					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATAGTTACCTTTCCTTTTGC	0.333																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.e6+1		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							65	63	64					4																	82074799		2203	4300	6503	SO:0001630	splice_region_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82074799T>C	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.990+1A>G	4.37:g.82074799T>C						PRKG2_uc011ccf.1_Splice_Site|PRKG2_uc011ccg.1_Splice_Site|PRKG2_uc011cch.1_Splice_Site_p.K330_splice	p.K330_splice	NM_006259	NP_006250	Q13237	KGP2_HUMAN			6	1003	-			330					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.990_splice	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408128	0.42715	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.93133	-3.17;-3.17;-3.17	6.08	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.188427	0.56097	D	0.000034	D	0.87430	0.6175	L	0.31065	0.9	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.16722	0.016;0.005	T	0.81957	-0.0695	10	0.37606	T	0.19	-24.7393	9.6289	0.39768	0.1238:0.0:0.1145:0.7617	.	330;330	E7EPE6;Q13237	.;KGP2_HUMAN	R	330	ENSP00000378945:K330R;ENSP00000264399:K330R;ENSP00000389038:K330R	ENSP00000264399:K330R	K	-	2	0	PRKG2	82293823	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.066000	0.50002	1.093000	0.41377	0.482000	0.46254	AAG		0.333	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	Missense_Mutation	C	82074799	T	C	82074799	5	2	225	1	0	0	0	0	0	0	1	0	12523	1623	56	4	1351	4	PRKG2	4	82074799	Splice_Site	SNP	T	TCGA-32-1982-01A-01D-1494-08	11459279	82074799	109079477	17	15685											
MMRN1	22915	broad.mit.edu	37	chr4	90874400	90874400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagacaagcttgcatttgAgtctgaaaatattaacagtg	16	12	8	5	0	1	3	0	2	1	1	1	3	1	3	0	0	3	2	0	0	7	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:90874400A>G	ENST00000394980.1	+	9	3837	c.3518A>G	c.(3517-3519)gAg>gGg	p.E1173G	MMRN1_ENST00000508372.1_Missense_Mutation_p.E915G|MMRN1_ENST00000394981.1_Missense_Mutation_p.E476G|MMRN1_ENST00000264790.2_Missense_Mutation_p.E1173G			Q13201	MMRN1_HUMAN	multimerin 1	1173	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTGCATTTGAGTCTGAAAAT	0.368																																						uc003hst.3																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3517-3519)gAg>gGg		Homo sapiens multimerin 1 (MMRN1), mRNA.							134	136	135					4																	90874400		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874400A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3518A>G	4.37:g.90874400A>G	ENSP00000378431:p.Glu1173Gly					MMRN1_uc010iku.3_Missense_Mutation_p.E476G|MMRN1_uc011cds.2_Missense_Mutation_p.E915G	p.E1173G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3589	+		Hepatocellular(203;0.114)	1173			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3518A>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714709	0.68730	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.25	5.25	0.73442	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.094754	0.45867	D	0.000327	T	0.73118	0.3546	N	0.16903	0.455	0.26129	N	0.980447	D;D	0.71674	0.996;0.998	P;D	0.69824	0.9;0.966	T	0.65236	-0.6217	10	0.44086	T	0.13	.	9.7115	0.40247	0.9204:0.0:0.0796:0.0	.	476;1173	Q13201-2;Q13201	.;MMRN1_HUMAN	G	1173;1173;476;915	ENSP00000378431:E1173G;ENSP00000264790:E1173G;ENSP00000378432:E476G;ENSP00000426461:E915G	ENSP00000264790:E1173G	E	+	2	0	MMRN1	91093423	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.359000	0.59449	2.285000	0.76669	0.477000	0.44152	GAG		0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		G	90874400	A	G	90874400	3	3	225	1	0	0	0	0	1	0	0	0	9670	304	11	4	3548	4	MMRN1	4	90874400	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08	8799601	90874400	100279876	18	15686											
ZFP42	132625	broad.mit.edu	37	chr4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccaagacctgcaggCggaaatagaacctgtcagcg	13	5	12	11	2	2	2	2	0	0	2	2	3	2	3	3	2	4	1	3	2	5	1	rs535489031		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924074C>T	ENST00000326866.4	+	4	521	c.113C>T	c.(112-114)gCg>gTg	p.A38V	ZFP42_ENST00000509524.1_Missense_Mutation_p.A38V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	38					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572													C|||	1	0.000199681	0	0	5008	,	,		17336	0		0.001	False		,,,				2504	0					uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(112-114)gCg>gTg		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							98	86	90					4																	188924074		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924074C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.113C>T	4.37:g.188924074C>T	ENSP00000317686:p.Ala38Val					ZFP42_uc003izi.1_Missense_Mutation_p.A38V|ZFP42_uc021xvm.1_Missense_Mutation_p.A38V	p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	521	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	38					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.113C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904976	0.33628	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.11930	2.73;2.73	3.77	0.88	0.19161	.	0.656003	0.14546	N	0.312931	T	0.07683	0.0193	L	0.36672	1.1	0.09310	N	1	P	0.37061	0.58	B	0.18561	0.022	T	0.24225	-1.0166	10	0.72032	D	0.01	.	5.9053	0.18998	0.332:0.5704:0.0:0.0976	.	38	Q96MM3	ZFP42_HUMAN	V	38	ENSP00000317686:A38V;ENSP00000424662:A38V	ENSP00000317686:A38V	A	+	2	0	ZFP42	189161068	0.009000	0.17119	0.000000	0.03702	0.004000	0.04260	0.930000	0.28858	0.133000	0.18654	0.655000	0.94253	GCG		0.572	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		T	188924074	C	T	188924074	3	4	225	1	0	0	0	0	1	0	0	0	17647	768	27	1	115	1	ZFP42	4	188924074	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	98049674	188924074	2230202	19	15687											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	14	8	13	6	3	1	1	1	1	0	1	2	4	1	3	0	2	3	3	0	2	6	3	rs200711766	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													G|||	2	0.000399361	8e-04	0	5008	,	,		18767	0		0.001	False		,,,				2504	0					uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(679-681)Gtt>Att		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							118	123	122					4																	188924640		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924640G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.679G>A	4.37:g.188924640G>A	ENSP00000317686:p.Val227Ile					ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1087	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	227					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.679G>A	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		A	188924640	G	A	188924640	3	1	225	1	0	0	0	0	1	0	0	0	17647	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	566	188924640	2229636	20	15688											
ANKRA2	57763	broad.mit.edu	37	chr5	72857050	72857050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagaaatgctttgttgtaGagggggtgtagacatgcctt	9	13	15	4	0	0	3	0	1	0	3	0	4	0	3	1	2	2	4	1	2	3	5	rs553343150		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:72857050G>A	ENST00000296785.3	-	3	1011	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	118						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CTTTGTTGTAGAGGGGGTGTA	0.388																																						uc003kcu.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(352-354)tCt>tTt		Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.							270	240	250					5																	72857050		2203	4300	6503	SO:0001583	missense	57763					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	g.chr5:72857050G>A	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.353C>T	5.37:g.72857050G>A	ENSP00000296785:p.Ser118Phe						p.S118F	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	2	1012	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	118						Missense_Mutation	SNP	ENST00000296785.3	37	c.353C>T	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586996	0.86851	.	.	ENSG00000164331	ENST00000296785	T	0.40476	1.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.47716	1.5	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.60110	-0.7327	10	0.56958	D	0.05	-13.5231	18.6566	0.91456	0.0:0.0:1.0:0.0	.	118	Q9H9E1	ANRA2_HUMAN	F	118	ENSP00000296785:S118F	ENSP00000296785:S118F	S	-	2	0	ANKRA2	72892806	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.476000	0.97823	2.391000	0.81399	0.557000	0.71058	TCT		0.388	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039		A	72857050	G	A	72857050	3	1	225	1	0	0	0	0	1	0	0	0	636	942	33	3	616	3	ANKRA2	5	72857050	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		72857050	108058210	21	15689											
PCDHA1	56147	broad.mit.edu	37	chr5	140167547	140167547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggtgttcgtgctggacGagaacgacaacgcgccggcg	8	6	16	11	7	0	1	0	0	0	1	1	4	0	2	1	3	4	3	1	3	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140167547G>A	ENST00000504120.2	+	1	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E558K	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.672																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1672-1674)Gag>Aag		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							86	88	87					5																	140167547		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167547G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1672G>A	5.37:g.140167547G>A	ENSP00000420840:p.Glu558Lys					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E558K	p.E558K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1672	+			572			Cadherin 5.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1672G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	17.25	3.342009	0.61073	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.60920	0.15;0.15	3.68	3.68	0.42216	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38272	U	0.001751	T	0.49626	0.1568	L	0.61387	1.9	0.25018	N	0.991356	D;D	0.55605	0.964;0.972	B;B	0.40864	0.223;0.342	T	0.54357	-0.8306	10	0.62326	D	0.03	.	7.0179	0.24899	0.1018:0.1934:0.7048:0.0	.	558;558	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	K	558	ENSP00000420840:E558K;ENSP00000367373:E558K	ENSP00000367373:E558K	E	+	1	0	PCDHA1	140147731	0.245000	0.23899	1.000000	0.80357	0.646000	0.38490	0.496000	0.22499	1.776000	0.52262	0.484000	0.47621	GAG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167547	G	A	140167547	3	1	225	1	0	0	0	0	1	0	0	0	11519	1059	37	2	1674	2	PCDHA1	5	140167547	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	67310497	140167547	40747713	22	15690											
PCDHA8	56140	broad.mit.edu	37	chr5	140221381	140221381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccgctagagggcgcgtccGatgcagatgttggagctaac	8	9	14	10	4	0	2	0	0	0	2	2	4	2	3	2	2	3	4	2	2	2	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140221381G>A	ENST00000531613.1	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D159N|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTCCGATGCAGATGT	0.458																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(475-477)Gat>Aat		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							79	85	83					5																	140221381		2203	4300	6503	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140221381G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.475G>A	5.37:g.140221381G>A	ENSP00000434655:p.Asp159Asn					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D159N	p.D159N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	475	+			174			Cadherin 2.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.475G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240440	0.95240	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.41400	1.0;1.0	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.37857	U	0.001917	T	0.81384	0.4811	H	0.99911	4.935	0.43334	D	0.995373	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91098	0.4912	10	0.87932	D	0	.	15.9239	0.79597	0.0:0.0:1.0:0.0	.	159;159	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	N	159	ENSP00000434655:D159N;ENSP00000367363:D159N	ENSP00000367363:D159N	D	+	1	0	PCDHA8	140201565	1.000000	0.71417	0.246000	0.24233	0.363000	0.29612	9.504000	0.97986	1.794000	0.52575	0.552000	0.68991	GAT		0.458	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140221381	G	A	140221381	3	1	225	1	0	0	0	0	1	0	0	0	11530	1058	37	2	477	2	PCDHA8	5	140221381	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	53834	140221381	40693879	23	15691											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769126	140769126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcaacgacaatgcgccaCgggtgctgtaccccgcgctg	8	5	12	16	6	0	0	0	0	0	0	0	1	0	0	4	1	4	4	4	1	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140769126C>T	ENST00000519479.1	+	1	1675	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCACGGGTGCTGTA	0.662																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1675-1677)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							37	47	43					5																	140769126		2150	4254	6404	SO:0001583	missense	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769126C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1675C>T	5.37:g.140769126C>T	ENSP00000428288:p.Arg559Trp					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.R559W	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1675	+			563			Cadherin 5.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1675C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.423499	0.25639	.	.	ENSG00000253953	ENST00000519479	T	0.39056	1.1	5.05	-1.25	0.09405	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.54240	0.1846	M	0.64997	1.995	0.09310	N	1	D;D	0.76494	0.987;0.999	P;P	0.57152	0.814;0.776	T	0.57124	-0.7865	9	0.66056	D	0.02	.	15.1845	0.72989	0.2959:0.6356:0.0685:0.0	.	559;559	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	W	559	ENSP00000428288:R559W	ENSP00000428288:R559W	R	+	1	2	PCDHGB4	140749310	0.000000	0.05858	0.013000	0.15412	0.056000	0.15407	-0.958000	0.03857	-0.351000	0.08249	-1.357000	0.01221	CGG		0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140769126	C	T	140769126	3	4	225	1	0	0	0	0	1	0	0	0	11565	527	19	1	1677	1	PCDHGB4	5	140769126	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	547745	140769126	40146134	24	15692											
SLC36A3	285641	broad.mit.edu	37	chr5	150672978	150672978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggcaggtttcaaggccGtacatcgtggcctctccata	7	11	11	12	3	2	0	1	0	1	0	5	0	2	0	3	4	1	3	3	4	3	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:150672978G>A	ENST00000335230.3	-	4	762	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC36A3_ENST00000377713.3_Silent_p.Y117Y	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	117						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCAAGGCCGTACATCGTGG	0.428																																						uc003ltx.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(349-351)taC>taT		Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.							101	81	88					5																	150672978		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150672978G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.351C>T	5.37:g.150672978G>A						SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltw.2_Silent_p.Y117Y	p.Y117Y	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	770	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	117					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.351C>T	CCDS4314.1																																																																																				0.428	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		A	150672978	G	A	150672978	2	1	225	1	0	0	0	0	0	0	0	1	14595	1140	40	1		1	SLC36A3	5	150672978	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	9903852	150672978	30242282	25	15693											
ZNF193	7746	broad.mit.edu	37	chr6	28200919	28200919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacactgcaacctcattcGccatcagaagatccacacag	13	7	6	15	2	2	2	2	0	0	2	5	3	3	2	3	0	2	1	3	0	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:28200919G>A	ENST00000252207.5	+	4	1296	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R383H|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R434H	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	383					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AACCTCATTCGCCATCAGAAG	0.502																																						uc010jqz.2																			0				endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						c.(1300-1302)cGc>cAc		Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.							95	83	87					6																	28200919		2203	4300	6503	SO:0001583	missense	7746				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28200919G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.1148G>A	6.37:g.28200919G>A	ENSP00000252207:p.Arg383His					ZNF193_uc003nkr.2_Missense_Mutation_p.R383H|ZNF193_uc003nkq.2_Missense_Mutation_p.R383H	p.R434H	NM_001199479	NP_001186408	O15535	ZN193_HUMAN			4	1490	+			383					B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.1301G>A	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955909	0.53293	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979	T;T;T	0.61627	0.09;0.09;0.09	4.85	-0.385	0.12470	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	L	0.53561	1.675	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.11329	0.006;0.006	T	0.35151	-0.9800	9	0.62326	D	0.03	.	4.7569	0.13088	0.407:0.0:0.4485:0.1445	.	434;383	E7EVQ2;O15535	.;ZN193_HUMAN	H	434;383;383	ENSP00000404074:R434H;ENSP00000252207:R383H;ENSP00000433402:R383H	ENSP00000252207:R383H	R	+	2	0	ZNF193	28308898	0.005000	0.15991	0.510000	0.27712	0.737000	0.42083	-0.766000	0.04725	0.198000	0.20407	0.655000	0.94253	CGC		0.502	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		A	28200919	G	A	28200919	3	1	225	1	0	0	0	0	1	0	0	0	17754	1087	38	1	1158	1	ZNF193	6	28200919	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		28200919	142914148	26	15694											
EEF1A1	1915	broad.mit.edu	37	chr6	74228304	74228304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtttgagaacaccagtctCcactcggccaacaggaacag	12	6	11	12	1	1	1	0	1	1	1	3	3	1	2	3	3	3	1	3	3	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:74228304C>T	ENST00000316292.9	-	5	1793	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268K|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268K|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	268					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(802-804)Gag>Aag		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							70	72	72					6																	74228304		2133	4268	6401	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228304C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.802G>A	6.37:g.74228304C>T	ENSP00000339063:p.Glu268Lys		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.E268K|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	p.E268K	NM_001402	NP_001393	P68104	EF1A1_HUMAN			4	1794	-			268					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.802G>A	CCDS4980.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.076511|5.076511	0.94000|0.94000	.|.	.|.	ENSG00000156508|ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977|ENST00000358190	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Translation elongation factor EFTu/EF1A, domain 2 (2);Translation elongation/initiation factor/Ribosomal, beta-barrel (2);|.	0.126928|.	0.50627|.	U|.	0.000107|.	D|D	0.86372|0.86372	0.5917|0.5917	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.91047|0.91047	0.4875|0.4875	10|6	0.87932|0.87932	D|D	0|0	.|.	18.0919|18.0919	0.89478|0.89478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	268;268;268;268|.	P68104;Q53HR5;Q6IPS9;Q5VTE0|.	EF1A1_HUMAN;.;.;EF1A3_HUMAN|.	K|E	268;268;268;247|267	ENSP00000339063:E268K;ENSP00000339053:E268K;ENSP00000330054:E268K|.	ENSP00000339053:E268K|ENSP00000350920:G267E	E|G	-|-	1|2	0|0	EEF1A1|EEF1A1	74285025|74285025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.442000|7.442000	0.80503|0.80503	2.323000|2.323000	0.78572|0.78572	0.556000|0.556000	0.70494|0.70494	GAG|GGA		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74228304	C	T	74228304	3	4	225	1	0	0	0	0	1	0	0	0	4923	864	30	3	598	3	EEF1A1	6	74228304	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	46027385	74228304	96886763	27	15695											
GPRC6A	222545	broad.mit.edu	37	chr6	117150029	117150031	+	In_Frame_Del	DEL	ACA	ACA	-																															tctgggagagtcttctgaggAcaacattttttcatgaatag																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:117150029_117150031delACA	ENST00000310357.3	-	1	167_169	c.146_148delTGT	c.(145-150)ttgtcc>tcc	p.L49del	GPRC6A_ENST00000368549.3_In_Frame_Del_p.L49del|GPRC6A_ENST00000530250.1_In_Frame_Del_p.L49del	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	49					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCTGAGGACAACATTTTTTC	0.443																																						uc003pxj.1																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(145-150)ttgtcc>tcc		Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.																																				SO:0001651	inframe_deletion	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117150029_117150031delACA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.146_148delTGT	6.37:g.117150032_117150034delACA	ENSP00000309493:p.Leu49del					GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del	p.L49del	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	0	168_170	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	49					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	In_Frame_Del	DEL	ENST00000310357.3	37	c.146_148delTGT	CCDS5112.1																																																																																				0.443	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			-	117150031	ACA	-	117150029	7	5	225	1	0	1	0	1	0	0	0	0	6728	275	10	0	2656	0	GPRC6A	6	117150029	In_Frame_Del	DEL	ACA	TCGA-32-1982-01A-01D-1494-08	42921725	117150029	53965038	28	15696											
HBS1L	10767	broad.mit.edu	37	chr6	135318720	135318720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtctcaagaacatcggaaGaagcaatggcatcttcaatg	15	8	9	9	1	3	2	2	0	2	2	5	3	3	3	0	2	2	2	0	2	6	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:135318720G>C	ENST00000367837.5	-	6	820	c.614C>G	c.(613-615)tCt>tGt	p.S205C	HBS1L_ENST00000367824.4_Missense_Mutation_p.S41C|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000527578.1_Missense_Mutation_p.S41C|HBS1L_ENST00000415177.2_Missense_Mutation_p.S140C|HBS1L_ENST00000367826.2_Missense_Mutation_p.S163C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	205					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACATCGGAAGAAGCAATGGC	0.443																																						uc003qez.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(613-615)tCt>tGt		Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.							135	130	131					6																	135318720		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135318720G>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.614C>G	6.37:g.135318720G>C	ENSP00000356811:p.Ser205Cys					HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	p.S205C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	5	821	-	Colorectal(23;0.221)		205					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.614C>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831922	0.32421	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000529641;ENST00000527507	T;T;T;T;T;T	0.65549	-0.12;-0.16;-0.13;-0.12;-0.16;-0.15	6.16	5.25	0.73442	.	1.161960	0.05788	N	0.609867	T	0.51024	0.1650	L	0.50333	1.59	0.80722	D	1	P;B	0.35050	0.482;0.232	B;B	0.39299	0.296;0.155	T	0.51834	-0.8655	10	0.72032	D	0.01	-4.9541	9.7552	0.40500	0.0727:0.1415:0.7858:0.0	.	163;205	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	C	205;41;140;163;41;75;41;41	ENSP00000356811:S205C;ENSP00000436256:S41C;ENSP00000389826:S140C;ENSP00000356800:S163C;ENSP00000356798:S41C;ENSP00000434533:S75C	ENSP00000356798:S41C	S	-	2	0	HBS1L	135360413	1.000000	0.71417	0.957000	0.39632	0.069000	0.16628	3.712000	0.54875	2.937000	0.99478	0.650000	0.86243	TCT		0.443	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			C	135318720	G	C	135318720	3	2	225	1	0	0	0	0	1	0	0	0	6987	942	33	5	1492	5	HBS1L	6	135318720	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	18168691	135318720	35796347	29	15697											
BCLAF1	9774	broad.mit.edu	37	chr6	136582520	136582520	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttaggactgctacctgaTtttttgaagttaaagcgccc	10	14	8	9	1	0	2	0	2	0	0	0	3	0	3	2	1	3	2	2	1	5	7	rs200948350		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:136582520T>C	ENST00000531224.1	-	12	2892	c.2640A>G	c.(2638-2640)aaA>aaG	p.K880K	BCLAF1_ENST00000392348.2_Silent_p.K829K|BCLAF1_ENST00000031135.9_Silent_p.K98K|BCLAF1_ENST00000353331.4_Silent_p.K829K|BCLAF1_ENST00000527759.1_Silent_p.K878K|BCLAF1_ENST00000530767.1_Silent_p.K707K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Silent_p.K831K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	880					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTACCTGATTTTTTGAAGT	0.428																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2638-2640)aaA>aaG		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.							231	232	231					6																	136582520		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582520T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2640A>G	6.37:g.136582520T>C						BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K878K|BCLAF1_uc003qgw.1_Silent_p.K707K	p.K880K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	11	2893	-	Colorectal(23;0.24)		880					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.2640A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	6.207	0.406345	0.11754	.	.	ENSG00000029363	ENST00000534762	.	.	.	5.5	3.13	0.36017	.	.	.	.	.	T	0.44159	0.1280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34304	-0.9834	4	.	.	.	-8.6626	8.7847	0.34814	0.0:0.2346:0.0:0.7654	.	.	.	.	V	147	.	.	I	-	1	0	BCLAF1	136624213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.259000	0.43259	0.395000	0.25257	0.533000	0.62120	ATC		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		C	136582520	T	C	136582520	2	2	225	1	0	0	0	0	0	0	0	1	1383	1490	52	4		4	BCLAF1	6	136582520	Silent	SNP	T	TCGA-32-1982-01A-01D-1494-08	1263800	136582520	34532547	30	15698											
IFNGR1	3459	broad.mit.edu	37	chr6	137519737	137519737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgatacatattttgattCaggttttgtctctaaagtag	11	17	9	4	0	2	2	1	2	1	0	3	3	2	2	0	1	1	2	0	1	5	9			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:137519737C>G	ENST00000367739.4	-	7	1022	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E273Q	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	301					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATTTTGATTCAGGTTTTGTC	0.393																																						uc003qho.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(901-903)Gaa>Caa		Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	Interferon gamma-1b(DB00033)						64	60	62					6																	137519737		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519737C>G		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.901G>C	6.37:g.137519737C>G	ENSP00000356713:p.Glu301Gln					IFNGR1_uc011edm.1_Missense_Mutation_p.E273Q	p.E301Q	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	6	1004	-	Colorectal(23;0.24)		301					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.901G>C	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227084	0.58668	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	D;T	0.81821	-1.54;-1.34	5.9	5.02	0.67125	Interferon gamma receptor, poxvirus/mammal (1);	0.128112	0.30781	N	0.008893	D	0.84611	0.5510	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	D	0.86891	0.2048	10	0.72032	D	0.01	-7.4561	12.3	0.54868	0.1691:0.8309:0.0:0.0	.	273;301	F5H5M7;P15260	.;INGR1_HUMAN	Q	301;273	ENSP00000356713:E301Q;ENSP00000443282:E273Q	ENSP00000356713:E301Q	E	-	1	0	IFNGR1	137561430	0.998000	0.40836	0.997000	0.53966	0.496000	0.33645	2.395000	0.44459	1.459000	0.47892	0.655000	0.94253	GAA		0.393	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			G	137519737	C	G	137519737	3	3	225	1	0	0	0	0	1	0	0	0	7549	835	29	5	572	5	IFNGR1	6	137519737	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	937217	137519737	33595330	31	15699											
SYNE1	23345	broad.mit.edu	37	chr6	152831380	152831380	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttagcatttccttGgatcttggtggtcaccttcc	5	16	8	12	0	3	0	1	0	2	0	5	1	5	1	4	3	2	1	4	3	1	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:152831380G>A	ENST00000367255.5	-	8	1130	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	SYNE1_ENST00000466159.2_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q184*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	177	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTTCCTTGGATCTTGGTG	0.453										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(529-531)Caa>Taa		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							213	195	201					6																	152831380		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831380G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.529C>T	6.37:g.152831380G>A	ENSP00000356224:p.Gln177*	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	p.Q177*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	5	752	-		Ovarian(120;0.0955)	177			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.529C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	37	6.600458	0.97697	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	.	.	.	5.52	5.52	0.82312	.	0.107337	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.4369	0.94799	0.0:0.0:1.0:0.0	.	.	.	.	X	177;184;177;184;177;177;184;177;177;177	.	ENSP00000265368:Q177X	Q	-	1	0	SYNE1	152873073	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.671000	0.74472	2.595000	0.87683	0.637000	0.83480	CAA		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152831380	G	A	152831380	4	1	225	1	0	0	0	0	0	1	0	0	15442	1357	47	3	26493	3	SYNE1	6	152831380	Nonsense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	15311643	152831380	18283687	32	15700											
MAP3K4	4216	broad.mit.edu	37	chr6	161527602	161527602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtcagtccgattgtttGaagaaaagaggtaccgagaa	16	8	12	5	2	1	5	1	1	0	4	2	7	2	5	2	1	1	2	2	1	6	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527602G>A	ENST00000392142.4	+	20	4061	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	MAP3K4_ENST00000366919.2_Missense_Mutation_p.E1255K|MAP3K4_ENST00000348824.7_Missense_Mutation_p.E1251K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E1301K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1305					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGATTGTTTGAAGAAAAGAG	0.408																																						uc003qtn.3																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3913-3915)Gaa>Aaa		Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.							122	113	116					6																	161527602		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527602G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3913G>A	6.37:g.161527602G>A	ENSP00000375986:p.Glu1305Lys					MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.3_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.3_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.3_5'UTR	p.E1305K	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	19	4055	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1305					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3913G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192457	0.94960	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71103	-0.52;-0.54;-0.54;-0.52	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	N	0.19112	0.55	0.80722	D	1	D;P;D;D	0.58268	0.967;0.954;0.977;0.982	D;B;P;P	0.63113	0.911;0.309;0.782;0.708	T	0.74551	-0.3628	10	0.66056	D	0.02	-24.7076	18.2015	0.89839	0.0:0.0:1.0:0.0	.	1301;241;1255;1305	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	K	1255;1305;1255;1301;1251	ENSP00000355886:E1255K;ENSP00000375986:E1305K;ENSP00000355887:E1301K;ENSP00000297332:E1251K	ENSP00000297332:E1251K	E	+	1	0	MAP3K4	161447592	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.476000	0.97823	2.271000	0.75665	0.650000	0.86243	GAA		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			A	161527602	G	A	161527602	3	1	225	1	0	0	0	0	1	0	0	0	9252	1291	45	3	3991	3	MAP3K4	6	161527602	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	8696222	161527602	9587465	33	15701											
MAP3K4	4216	broad.mit.edu	37	chr6	161527656	161527656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcattggtcaagtttgtGatacgcctaagtcctatgat	11	15	8	7	1	2	2	2	2	0	0	3	2	3	2	2	1	1	1	2	1	5	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527656G>A	ENST00000392142.4	+	20	4115	c.3967G>A	c.(3967-3969)Gat>Aat	p.D1323N	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D1273N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D1269N|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D1319N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1323					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAAGTTTGTGATACGCCTAA	0.398																																						uc003qtn.3																			0		p.T1323T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3967-3969)Gat>Aat		Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.							176	160	166					6																	161527656		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527656G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3967G>A	6.37:g.161527656G>A	ENSP00000375986:p.Asp1323Asn					MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.3_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.3_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.3_Missense_Mutation_p.D12N	p.D1323N	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	19	4109	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1323					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3967G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979711	0.53827	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72394	-0.56;-0.65;-0.65;-0.56	4.85	4.85	0.62838	.	0.068819	0.64402	D	0.000017	T	0.40839	0.1133	N	0.08118	0	0.43761	D	0.996273	B;B;B;B	0.16166	0.004;0.002;0.013;0.016	B;B;B;B	0.17722	0.019;0.003;0.013;0.009	T	0.41680	-0.9495	10	0.51188	T	0.08	-26.0708	17.9942	0.89177	0.0:0.0:1.0:0.0	.	1319;259;1273;1323	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	N	1273;1323;1273;1319;1269	ENSP00000355886:D1273N;ENSP00000375986:D1323N;ENSP00000355887:D1319N;ENSP00000297332:D1269N	ENSP00000297332:D1269N	D	+	1	0	MAP3K4	161447646	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.670000	0.68088	2.223000	0.72356	0.585000	0.79938	GAT		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			A	161527656	G	A	161527656	3	1	225	1	0	0	0	0	1	0	0	0	9252	1290	45	3	4045	3	MAP3K4	6	161527656	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	54	161527656	9587411	34	15702											
ELMO1	9844	broad.mit.edu	37	chr7	37354483	37354483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatagaagtttgaactatCggcatgctggagtgcaaaat	14	11	11	5	1	0	2	0	1	0	1	1	4	0	3	0	2	3	4	0	2	7	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:37354483C>T	ENST00000310758.4	-	4	810	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_ENST00000448602.1_Missense_Mutation_p.D55N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D55N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	55					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323																																						uc022abv.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(163-165)Gat>Aat		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							112	106	108					7																	37354483		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37354483C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.163G>A	7.37:g.37354483C>T	ENSP00000312185:p.Asp55Asn					ELMO1_uc003tfk.2_Missense_Mutation_p.D55N|ELMO1_uc010kxg.2_Missense_Mutation_p.D55N	p.D55N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			3	873	-			55					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.163G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553375	0.86127	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.73681	2.27;2.27;2.27;1.21;1.19;-0.77;0.05	4.85	4.85	0.62838	.	0.056896	0.64402	D	0.000002	D	0.84790	0.5550	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.86168	0.1598	10	0.72032	D	0.01	.	16.3012	0.82816	0.0:1.0:0.0:0.0	.	55	Q92556	ELMO1_HUMAN	N	55	ENSP00000312185:D55N;ENSP00000406952:D55N;ENSP00000394458:D55N;ENSP00000406610:D55N;ENSP00000416090:D55N;ENSP00000391734:D55N;ENSP00000397857:D55N	ENSP00000312185:D55N	D	-	1	0	ELMO1	37321008	0.998000	0.40836	0.803000	0.32268	0.982000	0.71751	5.396000	0.66297	2.705000	0.92388	0.650000	0.86243	GAT		0.323	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	37354483	C	T	37354483	3	4	225	1	0	0	0	0	1	0	0	0	5065	884	31	2	2096	2	ELMO1	7	37354483	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		37354483	121784180	35	15703											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	225	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	17878560	55233043	103905620	36	15704											
RABL5	64792	broad.mit.edu	37	chr7	100959711	100959711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggacggctgttggaCaaagcaggaataccacatct	13	8	11	9	1	1	0	0	0	1	0	1	3	1	3	1	4	2	4	1	4	4	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:100959711C>A	ENST00000315322.4	-	4	412	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Missense_Mutation_p.V77F|RABL5_ENST00000498704.2_Missense_Mutation_p.V30F|RABL5_ENST00000517481.1_Missense_Mutation_p.V30F	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		107					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)	p.V107F(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGCTGTTGGACAAAGCAGGAA	0.502																																						uc003uyl.3																			1	Substitution - Missense(1)	p.V107F(2)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(319-321)Gtc>Ttc		Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.							208	177	187					7																	100959711		2203	4300	6503	SO:0001583	missense	64792						GTP binding	g.chr7:100959711C>A																												ENST00000315322.4:c.319G>T	7.37:g.100959711C>A	ENSP00000320359:p.Val107Phe					RABL5_uc011kkk.2_Missense_Mutation_p.V30F|RABL5_uc011kkl.2_Missense_Mutation_p.V30F|RABL5_uc003uym.3_Missense_Mutation_p.V77F|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Missense_Mutation_p.V107F	p.V107F	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN			3	422	-	Lung NSC(181;0.215)		107					Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	ENST00000315322.4	37	c.319G>T	CCDS5719.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121447	0.77436	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T;T	0.79940	-1.07;-1.32	6.08	6.08	0.98989	.	0.117202	0.64402	D	0.000015	D	0.86293	0.5898	M	0.64997	1.995	0.45733	D	0.998639	D;D;D	0.58970	0.984;0.976;0.958	D;P;P	0.65233	0.933;0.613;0.885	D	0.85678	0.1299	10	0.51188	T	0.08	-44.9872	11.4275	0.50020	0.0:0.9188:0.0:0.0812	.	107;77;107	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	F	30;107;30;77	ENSP00000320359:V107F;ENSP00000390770:V77F	ENSP00000320359:V107F	V	-	1	0	RABL5	100746431	0.999000	0.42202	0.997000	0.53966	0.946000	0.59487	3.601000	0.54059	2.890000	0.99128	0.655000	0.94253	GTC		0.502	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1			A	100959711	C	A	100959711	3	1	225	1	0	0	0	0	1	0	0	0	12973	478	17	5	246	5	RABL5	7	100959711	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	45726668	100959711	58178952	37	15705											
SLC26A5	375611	broad.mit.edu	37	chr7	103050961	103050961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggctctgtgagatatatGgccacaaatccaaacctaca	15	8	8	10	0	1	2	0	1	1	2	2	3	2	2	3	2	2	1	3	2	5	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:103050961G>A	ENST00000306312.3	-	7	867	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC26A5_ENST00000393735.2_Silent_p.A202A|SLC26A5_ENST00000356767.4_Silent_p.A202A|SLC26A5_ENST00000432958.2_Silent_p.A202A|SLC26A5_ENST00000393729.1_Silent_p.A165A|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Silent_p.A202A|SLC26A5_ENST00000393730.1_Silent_p.A202A|SLC26A5_ENST00000339444.6_Silent_p.A202A|SLC26A5_ENST00000393727.1_Silent_p.A202A	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	202					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.A202A(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGAGATATATGGCCACAAATC	0.408																																						uc003vbz.3																			1	Substitution - coding silent(1)	p.A202A(2)	upper_aerodigestive_tract(1)	endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(604-606)gcC>gcT		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							69	68	68					7																	103050961		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050961G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.606C>T	7.37:g.103050961G>A						SLC26A5_uc003vbt.2_Silent_p.A202A|SLC26A5_uc003vbu.2_Silent_p.A202A|SLC26A5_uc003vbv.2_Silent_p.A202A|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.A202A	p.A202A	NM_198999	NP_945350	P58743	S26A5_HUMAN			6	868	-			202					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.606C>T	CCDS5733.1																																																																																				0.408	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		A	103050961	G	A	103050961	2	1	225	1	0	0	0	0	0	0	0	1	14520	1335	47	3		3	SLC26A5	7	103050961	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	2091250	103050961	56087702	38	15706											
NUP205	23165	broad.mit.edu	37	chr7	135304420	135304420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattgaagaaactgttaGacttcattttgaagacaggt	14	14	8	5	0	2	5	2	2	0	3	2	5	2	5	0	1	1	1	0	1	5	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:135304420G>T	ENST00000285968.6	+	29	4239	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1405					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAACTGTTAGACTTCATTTT	0.303																																						uc003vsw.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4213-4215)Gac>Tac		Homo sapiens nucleoporin 205kDa (NUP205), mRNA.							49	52	51					7																	135304420		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304420G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4213G>T	7.37:g.135304420G>T	ENSP00000285968:p.Asp1405Tyr						p.D1405Y	NM_015135	NP_055950	Q92621	NU205_HUMAN			28	4244	+			1405					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4213G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	g	17.49	3.403480	0.62288	.	.	ENSG00000155561	ENST00000285968	T	0.34072	1.38	5.67	4.8	0.61643	.	0.126143	0.64402	D	0.000001	T	0.54532	0.1864	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.55724	-0.8096	10	0.49607	T	0.09	-26.7751	14.9161	0.70798	0.0686:0.0:0.9314:0.0	.	1405	Q92621	NU205_HUMAN	Y	1405	ENSP00000285968:D1405Y	ENSP00000285968:D1405Y	D	+	1	0	NUP205	134954960	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.604000	0.67626	1.413000	0.46997	-0.336000	0.08194	GAC		0.303	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135304420	G	T	135304420	3	4	225	1	0	0	0	0	1	0	0	0	10759	942	33	5	4327	5	NUP205	7	135304420	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	32253459	135304420	23834243	39	15707											
KEL	3792	broad.mit.edu	37	chr7	142650951	142650951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttcaaatattccacGtcatggaccacgagggactg	11	12	9	9	2	2	0	2	0	0	0	3	3	3	2	2	2	0	1	2	2	2	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:142650951G>A	ENST00000355265.2	-	9	1491	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	339					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATATTCCACGTCATGGACCA	0.537																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1015-1017)gaC>gaT		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							199	197	197					7																	142650951		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650951G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1017C>T	7.37:g.142650951G>A							p.D339D	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1227	-	Melanoma(164;0.059)		339					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1017C>T	CCDS34766.1																																																																																				0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142650951	G	A	142650951	2	1	225	1	0	0	0	0	0	0	0	1	8142	1136	40	1		1	KEL	7	142650951	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	7346531	142650951	16487712	40	15708											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884178	143884178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactctgtctgagtcccGggaatctgagtcacgagata	9	10	12	10	2	4	3	1	2	3	1	5	6	5	5	1	2	0	0	1	2	2	1	rs140097295		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:143884178G>A	ENST00000378115.2	-	2	1428	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	ARHGEF35_ENST00000543357.1_Silent_p.P433P	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	433										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						TCTGAGTCCCGGGAATCTGAG	0.567																																						uc003wdz.2																			0				kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						c.(1297-1299)ccC>ccT		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.		G		2,4214		0,2,2106	15	16	16		1299	-4.7	0	7	dbSNP_134	16	1,8137		0,1,4068	no	coding-synonymous	ARHGEF35	NM_001003702.2		0,3,6174	AA,AG,GG		0.0123,0.0474,0.0243		433/485	143884178	3,12351	2108	4069	6177	SO:0001819	synonymous_variant	445328							g.chr7:143884178G>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"Rho guanine nucleotide exchange factors"	33846	protein-coding gene	gene with protein product			"Rho guanine nucleotide exchange factor (GEF) 5-like"	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1299C>T	7.37:g.143884178G>A						ARHGEF35_uc022aog.1_Silent_p.P433P	p.P433P	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			1	1472	-			433					Q6ZUI2	Silent	SNP	ENST00000378115.2	37	c.1299C>T	CCDS34770.1																																																																																				0.567	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		A	143884178	G	A	143884178	2	1	225	1	0	0	0	0	0	0	0	1	905	1103	39	2		2	ARHGEF35	7	143884178	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	1233227	143884178	15254485	41	15709											
ADAM28	10863	broad.mit.edu	37	chr8	24181418	24181418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgacaaggataagataaaGataaccccaaatgcaagctt	19	7	7	8	0	0	3	0	1	0	2	0	4	0	4	2	1	3	2	2	1	7	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:24181418G>A	ENST00000265769.4	+	9	902	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K11K|ADAM28_ENST00000437154.2_Silent_p.K264K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Silent_p.K31K|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	264	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAGATAAAGATAACCCCAA	0.383																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(790-792)aaG>aaA		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.							108	109	109					8																	24181418		2203	4299	6502	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181418G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.792G>A	8.37:g.24181418G>A						ADAM28_uc003xdx.3_Silent_p.K264K|ADAM28_uc011kzz.2_Silent_p.K31K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	p.K264K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	8	875	+		Prostate(55;0.0959)	264			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.792G>A	CCDS34865.1																																																																																				0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		A	24181418	G	A	24181418	2	1	225	1	0	0	0	0	0	0	0	1	246	933	33	3		3	ADAM28	8	24181418	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		24181418	122182604	42	15710											
JPH1	56704	broad.mit.edu	37	chr8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgagcggccagcgCggcctggtcggcggcatcgg	3	5	18	15	7	0	0	0	0	0	0	3	1	1	0	3	7	2	1	3	7	0	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:75171695C>T	ENST00000342232.4	-	3	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597																																						uc003yae.3																			1	Substitution - Missense(1)	p.A395T(2)	ovary(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1183-1185)Gcg>Acg		Homo sapiens junctophilin 1 (JPH1), mRNA.							31	33	32					8																	75171695		2202	4299	6501	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171695C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1183G>A	8.37:g.75171695C>T	ENSP00000344488:p.Ala395Thr					JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	p.A395T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1223	-	Breast(64;0.00576)		395			Ala-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1183G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489664	0.64074	.	.	ENSG00000104369	ENST00000342232	T	0.77877	-1.13	5.1	5.1	0.69264	.	0.055496	0.64402	D	0.000001	T	0.76870	0.4048	M	0.84219	2.685	0.43080	D	0.994732	P	0.52842	0.956	B	0.39299	0.296	T	0.81908	-0.0717	10	0.72032	D	0.01	.	11.2516	0.49028	0.0:0.9151:0.0:0.0849	.	395	Q9HDC5	JPH1_HUMAN	T	395	ENSP00000344488:A395T	ENSP00000344488:A395T	A	-	1	0	JPH1	75334249	1.000000	0.71417	0.753000	0.31225	0.446000	0.32137	3.617000	0.54181	2.809000	0.96659	0.655000	0.94253	GCG		0.597	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			T	75171695	C	T	75171695	3	4	225	1	0	0	0	0	1	0	0	0	7960	768	27	1	814	1	JPH1	8	75171695	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	50990277	75171695	71192327	43	15711											
ENPP2	5168	broad.mit.edu	37	chr8	120629796	120629796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatgattaatggagggcGaacaaaccttaaacagtaac	18	7	10	6	1	0	2	0	1	0	1	0	5	0	3	1	2	4	1	1	2	7	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:120629796G>A	ENST00000075322.6	-	6	545	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ENPP2_ENST00000427067.2_Missense_Mutation_p.R159C|ENPP2_ENST00000259486.6_Missense_Mutation_p.R163C|ENPP2_ENST00000522826.1_Missense_Mutation_p.R163C	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	163					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGAGGGCGAACAAACCTT	0.368																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(487-489)Cgc>Tgc		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							59	56	57					8																	120629796		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120629796G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.487C>T	8.37:g.120629796G>A	ENSP00000075322:p.Arg163Cys					ENPP2_uc010mdd.2_Missense_Mutation_p.R163C|ENPP2_uc003yot.2_Missense_Mutation_p.R163C	p.R163C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	573	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		163					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.487C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522246	0.85600	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88009	0.6322	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.87424	0.2384	10	0.62326	D	0.03	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	163;163;163	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	C	163;159;163;163;145	ENSP00000259486:R163C;ENSP00000403315:R159C;ENSP00000428291:R163C;ENSP00000075322:R163C;ENSP00000428304:R145C	ENSP00000075322:R163C	R	-	1	0	ENPP2	120698977	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	6.615000	0.74201	2.827000	0.97445	0.650000	0.86243	CGC		0.368	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120629796	G	A	120629796	3	1	225	1	0	0	0	0	1	0	0	0	5130	1058	37	2	2423	2	ENPP2	8	120629796	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	45458101	120629796	25734226	44	15712											
TSNARE1	203062	broad.mit.edu	37	chr8	143310871	143310871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacagaggtggcgatgaTgatgatgatgacaagcaggg	12	7	17	5	2	0	6	0	5	0	1	1	8	0	7	0	4	1	1	0	4	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:143310871T>C	ENST00000307180.3	-	13	1633	c.1516A>G	c.(1516-1518)Atc>Gtc	p.I506V	TSNARE1_ENST00000524325.1_Missense_Mutation_p.I505V|TSNARE1_ENST00000520166.1_Missense_Mutation_p.I506V	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	506	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGCGATGATGATGATGATG	0.512																																						uc003ywj.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1519-1521)Atc>Gtc		Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.							310	200	237					8																	143310871		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310871T>C			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1516A>G	8.37:g.143310871T>C	ENSP00000303437:p.Ile506Val					TSNARE1_uc011lju.2_Missense_Mutation_p.I505V|TSNARE1_uc003ywk.3_Missense_Mutation_p.I506V	p.I507V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			11	1558	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		506			Poly-Ile.		B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1519A>G	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	0.088	-1.171690	0.01646	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.12984	2.63;2.64;2.64	2.42	-4.84	0.03151	.	.	.	.	.	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35375	-0.9791	9	0.34782	T	0.22	.	5.7544	0.18164	0.0:0.4964:0.1747:0.329	.	505;506;507	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	V	505;506;506	ENSP00000428763:I505V;ENSP00000303437:I506V;ENSP00000427770:I506V	ENSP00000303437:I506V	I	-	1	0	TSNARE1	143308778	0.014000	0.17966	0.001000	0.08648	0.024000	0.10985	-0.066000	0.11598	-1.327000	0.02264	-0.581000	0.04135	ATC		0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		C	143310871	T	C	143310871	3	2	225	1	0	0	0	0	1	0	0	0	16627	1464	51	4	29	4	TSNARE1	8	143310871	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	22681075	143310871	3053151	45	15713											
EPB41L4B	54566	broad.mit.edu	37	chr9	112017853	112017853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttgctgtttcctggCgtccgcagtcggaagaatgc	6	13	13	9	3	0	1	0	0	0	1	3	3	2	3	2	3	2	3	2	3	2	3	rs377599387		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522																																						uc004bdz.1																			0		p.T369M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1105-1107)acG>acA		Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.		C	,	2,3888		0,2,1943	120	112	115		1107,1107	-4.4	0	9		115	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,2,6094	TT,TC,CC		0.0,0.0514,0.0164	,	369/519,369/901	112017853	2,12190	1945	4151	6096	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112017853C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1107G>A	9.37:g.112017853C>T						EPB41L4B_uc004bea.3_Silent_p.T369T	p.T369T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			10	1402	-			369			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1107G>A	CCDS43859.1																																																																																				0.522	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		T	112017853	C	T	112017853	2	4	225	1	0	0	0	0	0	0	0	1	5156	755	27	1		1	EPB41L4B	9	112017853	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		112017853	29195578	46	15714											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874106	24874106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctagctgattttttcctGgaaagagtatcacattcgat	12	15	7	7	1	2	2	1	1	1	1	4	4	3	3	1	1	1	2	1	1	4	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:24874106G>A	ENST00000396432.2	-	26	5598	c.5112C>T	c.(5110-5112)tcC>tcT	p.S1704S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1703	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTTTTCCTGGAAAGAGTAT	0.393																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(5110-5112)tcC>tcT		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							27	28	28					10																	24874106		2164	4198	6362	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874106G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5112C>T	10.37:g.24874106G>A						ARHGAP21_uc010qdb.1_Non-coding_Transcript	p.S1704S	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			25	5599	-			1703			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.5112C>T	CCDS7144.2																																																																																				0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		A	24874106	G	A	24874106	2	1	225	1	0	0	0	0	0	0	0	1	871	1335	47	3		3	ARHGAP21	10	24874106	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		24874106	110660641	47	15715											
CUL2	8453	broad.mit.edu	37	chr10	35299303	35299303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtattgtttgtctatcAgaacttcaatacacttctta	11	18	4	8	0	4	1	2	0	2	1	4	1	4	1	0	0	2	2	0	0	7	9			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:35299303A>T	ENST00000374748.1	-	22	2487	c.2174T>A	c.(2173-2175)cTg>cAg	p.L725Q	CUL2_ENST00000374749.3_Missense_Mutation_p.L725Q|CUL2_ENST00000374751.3_Missense_Mutation_p.L725Q|CUL2_ENST00000374746.1_Missense_Mutation_p.L686Q|CUL2_ENST00000602371.1_Missense_Mutation_p.L668Q|CUL2_ENST00000374742.1_Missense_Mutation_p.L686Q|CUL2_ENST00000537177.1_Missense_Mutation_p.L744Q			Q13617	CUL2_HUMAN	cullin 2	725					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTGTCTATCAGAACTTCAAT	0.463																																						uc010qer.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(2230-2232)cTg>cAg		Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.							145	123	131					10																	35299303		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35299303A>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.2174T>A	10.37:g.35299303A>T	ENSP00000363880:p.Leu725Gln					CUL2_uc021ppa.1_Missense_Mutation_p.L738Q|CUL2_uc009xma.3_Missense_Mutation_p.L594Q|CUL2_uc001ixv.3_Missense_Mutation_p.L725Q|CUL2_uc001ixw.3_Missense_Mutation_p.L725Q	p.L744Q	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN			20	2335	-			725					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.2231T>A	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743073	0.89663	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;T;D;T;D	0.90955	-2.71;-2.71;-1.37;-2.71;-1.37;-2.76	5.72	5.72	0.89469	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99019	1.0817	10	0.87932	D	0	-3.886	16.0129	0.80417	1.0:0.0:0.0:0.0	.	744;725	G3V1S2;Q13617	.;CUL2_HUMAN	Q	725;725;686;725;668;686;744	ENSP00000363883:L725Q;ENSP00000363880:L725Q;ENSP00000363878:L686Q;ENSP00000363881:L725Q;ENSP00000363874:L686Q;ENSP00000444856:L744Q	ENSP00000363874:L686Q	L	-	2	0	CUL2	35339309	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.329000	0.96413	2.184000	0.69523	0.482000	0.46254	CTG		0.463	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		T	35299303	A	T	35299303	3	4	225	1	0	0	0	0	1	0	0	0	4055	188	7	5	67	5	CUL2	10	35299303	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08	10425197	35299303	100235444	48	15716											
ZNF37A	7587	broad.mit.edu	37	chr10	38404217	38404217	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagccagagtcatctGggtgagttagtatgtgccag	9	12	12	8	0	2	2	1	1	1	1	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:38404217G>T	ENST00000361085.5	+	6	582	c.237G>T	c.(235-237)ctG>ctT	p.L79L	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Splice_Site_p.L79L	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGTCATCTGGGTGAGTTAG	0.393																																						uc001izk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.e7+1		Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.							61	55	57					10																	38404217		2203	4300	6503	SO:0001630	splice_region_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38404217G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.238+1G>T	10.37:g.38404217G>T						ZNF37A_uc001izl.3_Splice_Site_p.E80_splice|ZNF37A_uc001izm.3_Splice_Site_p.E80_splice	p.E80_splice	NM_001007094	NP_003412	P17032	ZN37A_HUMAN			7	1068	+			80					B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.238_splice	CCDS31183.1																																																																																				0.393	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	Silent	T	38404217	G	T	38404217	5	4	225	1	0	0	0	0	0	0	1	0	17869	1362	47	5	247	5	ZNF37A	10	38404217	Splice_Site	SNP	G	TCGA-32-1982-01A-01D-1494-08	3104914	38404217	97130530	49	15717											
LRRC18	474354	broad.mit.edu	37	chr10	50121795	50121795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccagtgtggtgggcaCgctgtccaggtggttcaagc	5	8	16	12	1	1	0	1	0	0	0	2	0	2	0	3	5	1	3	3	5	1	1	rs138127999		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50121795C>T	ENST00000374160.3	-	1	482	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	LRRC18_ENST00000298124.3_Missense_Mutation_p.V136M|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	136						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTGGGCACGCTGTCCAGG	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		19111	0		0	False		,,,				2504	0					uc001jhd.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(406-408)Gtg>Atg		Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.		C	MET/VAL,	1,4405	2.1+/-5.4	0,1,2202	81	80	81		406,	5	1	10	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	WDFY4,LRRC18	NM_001006939.3,NM_020945.1	21,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,	136/262,	50121795	2,13004	2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121795C>T	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.406G>A	10.37:g.50121795C>T	ENSP00000363275:p.Val136Met					WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	p.V136M	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			0	486	-			136					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.406G>A	CCDS31197.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.39	3.110206	0.56398	2.27E-4	1.16E-4	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.17054	2.3;2.3	5.98	4.98	0.66077	.	0.134780	0.51477	D	0.000086	T	0.21590	0.0520	M	0.76433	2.335	0.37955	D	0.93278	D	0.60160	0.987	P	0.46049	0.502	T	0.06180	-1.0841	9	.	.	.	.	5.1013	0.14760	0.0:0.437:0.4325:0.1306	.	136	Q8N456	LRC18_HUMAN	M	136	ENSP00000363275:V136M;ENSP00000298124:V136M	.	V	-	1	0	LRRC18	49791801	0.997000	0.39634	0.988000	0.46212	0.823000	0.46562	2.654000	0.46699	2.838000	0.97847	0.655000	0.94253	GTG		0.602	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		T	50121795	C	T	50121795	3	4	225	1	0	0	0	0	1	0	0	0	8974	536	19	1	387	1	LRRC18	10	50121795	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	11717578	50121795	85412952	50	15718											
CHAT	1103	broad.mit.edu	37	chr10	50870733	50870733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaccacctgctggcactgCgggagctggcccgggccatg	7	5	14	15	2	0	0	0	0	0	0	0	1	0	1	4	4	4	3	4	4	1	0	rs116097791	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50870733C>T	ENST00000337653.2	+	14	2035	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	CHAT_ENST00000395559.2_Missense_Mutation_p.R510W|CHAT_ENST00000339797.1_Missense_Mutation_p.R510W|CHAT_ENST00000395562.2_Missense_Mutation_p.R546W|CHAT_ENST00000351556.3_Missense_Mutation_p.R510W|CHAT_ENST00000455728.2_Missense_Mutation_p.R510W	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	628					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCTGGCACTGCGGGAGCTGGC	0.572																																						uc001jhz.2																			0		p.L627V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1882-1884)Cgg>Tgg		Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	Choline(DB00122)						121	116	118					10																	50870733		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870733C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1882C>T	10.37:g.50870733C>T	ENSP00000337103:p.Arg628Trp					CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R546W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	p.R628W	NM_020549	NP_066266	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	2035	+		all_neural(218;0.107)	628					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1882C>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914746	0.52546	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.56	0.259	0.15583	.	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	M	0.83384	2.64	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97957	1.0335	10	0.87932	D	0	-22.5315	16.7018	0.85351	0.5944:0.4056:0.0:0.0	.	510;628	F8W8I2;P28329	.;CLAT_HUMAN	W	510;510;510;628;546;510	ENSP00000343486:R510W;ENSP00000345878:R510W;ENSP00000378926:R510W;ENSP00000337103:R628W;ENSP00000378929:R546W;ENSP00000390521:R510W	ENSP00000337103:R628W	R	+	1	2	CHAT	50540739	0.996000	0.38824	0.997000	0.53966	0.392000	0.30506	1.636000	0.37144	0.144000	0.18951	-0.181000	0.13052	CGG		0.572	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		T	50870733	C	T	50870733	3	4	225	1	0	0	0	0	1	0	0	0	3313	759	27	1	1980	1	CHAT	10	50870733	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	748938	50870733	84664014	51	15719											
PTEN	5728	broad.mit.edu	37	chr10	89692829	89692829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaacttatcaaaccctttTgtgaagatcttgaccaatgg	13	13	7	8	0	2	4	1	2	1	2	2	4	2	4	2	1	2	0	2	1	6	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:89692829T>C	ENST00000371953.3	+	5	1670	c.313T>C	c.(313-315)Tgt>Cgt	p.C105R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> F (in BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BRRS). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACCCTTTTGTGAAGATCT	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(2)|Complex - frameshift(1)	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105W(4)|p.C105fs*2(3)|p.C105S(3)|p.Y27fs*1(2)|p.C105G(2)|p.C105Y(2)|p.C105R(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(313-315)Tgt>Cgt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							111	103	106					10																	89692829		2203	4297	6500	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692829T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.313T>C	10.37:g.89692829T>C	ENSP00000361021:p.Cys105Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C105R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1345	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.313T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333130	0.81801	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94957	0.8105	9	.	.	.	-9.9762	14.8407	0.70220	0.0:0.0:0.0:1.0	.	105	P60484	PTEN_HUMAN	R	105	ENSP00000361021:C105R	.	C	+	1	0	PTEN	89682809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	TGT		0.378	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692829	T	C	89692829	3	2	225	1	0	0	0	0	1	0	0	0	12738	1812	63	4	331	4	PTEN	10	89692829	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	38822096	89692829	45841918	52	15720											
OR5T3	390154	broad.mit.edu	37	chr11	56020589	56020589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccatgacatcatagtgtCaatattttacacaattgtga	15	13	6	7	0	2	3	2	2	0	1	2	3	2	3	1	0	1	0	1	0	5	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr11:56020589C>T	ENST00000303059.3	+	1	914	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCATAGTGTCAATATTTTAC	0.368																																						uc010rjd.2																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(913-915)tCa>tTa		Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.							110	101	104					11																	56020589		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020589C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.914C>T	11.37:g.56020589C>T	ENSP00000305403:p.Ser305Leu						p.S305L	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			0	914	+	Esophageal squamous(21;0.00448)		305					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.914C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340572	0.81911	.	.	ENSG00000172489	ENST00000303059	T	0.00265	8.39	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000687	T	0.00754	0.0025	H	0.96576	3.845	0.36891	D	0.889887	P	0.40681	0.727	P	0.50825	0.651	T	0.39313	-0.9620	10	0.87932	D	0	.	17.3257	0.87246	0.0:1.0:0.0:0.0	.	305	Q8NGG3	OR5T3_HUMAN	L	305	ENSP00000305403:S305L	ENSP00000305403:S305L	S	+	2	0	OR5T3	55777165	0.037000	0.19845	0.929000	0.37066	0.924000	0.55760	3.196000	0.51020	2.385000	0.81259	0.643000	0.83706	TCA		0.368	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		T	56020589	C	T	56020589	3	4	225	1	0	0	0	0	1	0	0	0	11183	838	29	3	916	3	OR5T3	11	56020589	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		56020589	78985927	53	15721											
ANO2	57101	broad.mit.edu	37	chr12	5724431	5724431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagctttgaggatcaggcGctcttcaaaagtctgttctg	10	12	11	8	1	5	1	2	1	3	0	5	3	5	2	0	2	1	3	0	2	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:5724431G>A	ENST00000356134.5	-	19	1923	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	ANO2_ENST00000327087.8_Missense_Mutation_p.R617C|ANO2_ENST00000546188.1_Missense_Mutation_p.R618C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	622					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGATCAGGCGCTCTTCAAAA	0.458																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1849-1851)Cgc>Tgc		Homo sapiens anoctamin 2 (ANO2), mRNA.							74	73	73					12																	5724431		1965	4170	6135	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5724431G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1852C>T	12.37:g.5724431G>A	ENSP00000348453:p.Arg618Cys						p.R617C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			17	1921	-			622					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1849C>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.309119	0.81247	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.79	4.79	0.61399	.	0.102645	0.64402	D	0.000004	T	0.75766	0.3894	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77582	-0.2534	10	0.87932	D	0	.	10.7508	0.46209	0.0:0.0:0.8102:0.1898	.	617	Q9NQ90-3	.	C	617;618;618;622;177	ENSP00000314048:R617C;ENSP00000348453:R618C;ENSP00000440981:R618C;ENSP00000443813:R177C	ENSP00000314048:R617C	R	-	1	0	ANO2	5594692	0.866000	0.29940	1.000000	0.80357	0.989000	0.77384	1.095000	0.30964	2.659000	0.90383	0.650000	0.86243	CGC		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5724431	G	A	5724431	3	1	225	1	0	0	0	0	1	0	0	0	697	1087	38	1	1183	1	ANO2	12	5724431	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		5724431	128127464	54	15722											
LRRK2	120892	broad.mit.edu	37	chr12	40689281	40689281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagacagcatttcttctctGgcttctgagagagaatatat	11	14	8	8	0	4	3	1	1	3	3	5	5	4	3	0	1	1	2	0	1	3	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:40689281G>A	ENST00000298910.7	+	23	2989	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	LRRK2_ENST00000343742.2_Silent_p.L977L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	977					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCTCTGGCTTCTGAGA	0.343																																						uc001rmg.4																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2929-2931)ctG>ctA		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.							71	72	72					12																	40689281		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689281G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2931G>A	12.37:g.40689281G>A						LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.3_5'UTR	p.L977L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			22	3052	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	977					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.2931G>A	CCDS31774.1																																																																																				0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40689281	G	A	40689281	2	1	225	1	0	0	0	0	0	0	0	1	9033	1335	47	3		3	LRRK2	12	40689281	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	34964850	40689281	93162614	55	15723											
LRRIQ1	84125	broad.mit.edu	37	chr12	85460676	85460676	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataataaaattactcgaattGgtaagaacaatgaaatttta	20	13	5	3	1	0	2	0	1	0	1	1	3	0	2	0	1	2	1	0	1	10	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:85460676G>T	ENST00000393217.2	+	10	2756	c.2695G>T	c.(2695-2697)Gga>Tga	p.G899*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	899										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTCGAATTGGTAAGAACAA	0.274																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.e10+1		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							33	34	34					12																	85460676		2195	4285	6480	SO:0001630	splice_region_variant	84125							g.chr12:85460676G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2695+1G>T	12.37:g.85460676G>T						LRRIQ1_uc021rbo.1_Splice_Site_p.G777_splice	p.G899_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	10	2806	+			899					Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.2695_splice	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	38	7.065241	0.98040	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.44	4.54	0.55810	.	0.155857	0.41823	U	0.000804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.5414	0.61676	0.0763:0.0:0.9237:0.0	.	.	.	.	X	899;874;899	.	ENSP00000256007:G899X	G	+	1	0	LRRIQ1	83984807	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	4.234000	0.58658	1.409000	0.46915	0.563000	0.77884	GGA		0.274	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	Nonsense_Mutation	T	85460676	G	T	85460676	5	4	225	1	0	0	0	0	0	0	1	0	9029	1362	47	5	2729	5	LRRIQ1	12	85460676	Splice_Site	SNP	G	TCGA-32-1982-01A-01D-1494-08	44771395	85460676	48391219	56	15724											
CHD8	57680	broad.mit.edu	37	chr14	21860669	21860673	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-																															ccaaatgctgagcttacatcTttgatttgaactgtaaactc																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:21860669_21860673delTTTGA	ENST00000557364.1	-	34	7027_7031	c.6764_6768delTCAAA	c.(6763-6768)atcaaafs	p.IK2255fs	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Frame_Shift_Del_p.IK1976fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.IK2255fs|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2255					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTTACATCTTTGATTTGAACTGT	0.468																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6763-6768)atcaaafs		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860669_21860673delTTTGA	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6764_6768delTCAAA	14.37:g.21860674_21860678delTTTGA	ENSP00000451601:p.Ile2255fs					CHD8_uc001was.2_Frame_Shift_Del_p.I1976fs|SNORD9_uc001wat.1_5'Flank	p.I2255fs	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	32	6829_6833	-	all_cancers(95;0.00121)		2255					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.6764_6768delTCAAA	CCDS53885.1																																																																																				0.468	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		-	21860673	TTTGA	-	21860669	7	5	225	1	0	1	0	1	0	0	0	0	3331	1606	56	0	997	0	CHD8	14	21860669	Frame_Shift_Del	DEL	TTTGA	TCGA-32-1982-01A-01D-1494-08		21860669	85488871	57	15725											
MYH6	4624	broad.mit.edu	37	chr14	23869930	23869930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactcacgtcgaagatctcGaagccagcgatgtccaggac	12	6	10	13	4	2	1	1	0	1	1	5	5	3	2	2	1	3	0	2	1	3	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:23869930G>A	ENST00000356287.3	-	12	1427	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_ENST00000405093.3_Silent_p.F466F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	466	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552																																						uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1396-1398)ttC>ttT		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.							91	79	83					14																	23869930		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869930G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1398C>T	14.37:g.23869930G>A						MYH6_uc010akp.2_Silent_p.F466F	p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	12	1469	-	all_cancers(95;2.54e-05)		466			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1398C>T	CCDS9600.1																																																																																				0.552	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			A	23869930	G	A	23869930	2	1	225	1	0	0	0	0	0	0	0	1	10038	1049	37	2		2	MYH6	14	23869930	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	2009261	23869930	83479610	58	15726											
DICER1	23405	broad.mit.edu	37	chr14	95569923	95569923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatccatcctgcccttgagCacttgaatagtgtctgtcgt	8	13	9	11	1	1	2	0	2	1	0	4	3	3	2	3	0	2	1	3	0	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:95569923C>T	ENST00000526495.1	-	23	4101	c.3810G>A	c.(3808-3810)gtG>gtA	p.V1270V	DICER1_ENST00000527414.1_Silent_p.V1270V|DICER1_ENST00000393063.1_Silent_p.V1270V|DICER1_ENST00000541352.1_Silent_p.V1270V|DICER1_ENST00000343455.3_Silent_p.V1270V|DICER1_ENST00000556045.1_Silent_p.V168V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1270					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCCCTTGAGCACTTGAATAG	0.468			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3808-3810)gtG>gtA		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							135	123	127					14																	95569923		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95569923C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3810G>A	14.37:g.95569923C>T						DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc021sbc.1_Silent_p.V1270V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V|DICER1_uc021sbd.1_Silent_p.V552V	p.V1270V	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	21	4022	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1270					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3810G>A	CCDS9931.1																																																																																				0.468	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			T	95569923	C	T	95569923	2	4	225	1	0	0	0	0	0	0	0	1	4521	697	25	3		3	DICER1	14	95569923	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	71699993	95569923	11779617	59	15727											
RYR3	6263	broad.mit.edu	37	chr15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatcttcctgggagtcGcggagggctcagcccagtac	9	7	12	13	2	2	0	1	0	1	0	4	2	3	2	2	3	3	2	2	3	2	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:33895352G>A	ENST00000389232.4	+	18	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_ENST00000415757.3_Missense_Mutation_p.A651T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	651	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1951-1953)Gcg>Acg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							87	93	91					15																	33895352		2017	4173	6190	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895352G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1951G>A	15.37:g.33895352G>A	ENSP00000373884:p.Ala651Thr					RYR3_uc010bar.3_Missense_Mutation_p.A651T	p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	17	2021	+		all_lung(180;7.18e-09)	651			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1951G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037713	0.54896	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96587	-4.06;-4.06	5.46	5.46	0.80206	B30.2/SPRY domain (1);	0.298104	0.32343	N	0.006234	D	0.92782	0.7705	L	0.47716	1.5	0.33544	D	0.595201	P;P	0.47841	0.901;0.84	B;B	0.34418	0.182;0.089	D	0.95362	0.8456	10	0.49607	T	0.09	.	14.4052	0.67079	0.0:0.0:0.8526:0.1474	.	651;651	Q15413-2;Q15413	.;RYR3_HUMAN	T	651	ENSP00000373884:A651T;ENSP00000399610:A651T	ENSP00000354735:A651T	A	+	1	0	RYR3	31682644	0.996000	0.38824	0.983000	0.44433	0.910000	0.53928	2.532000	0.45659	2.846000	0.97976	0.644000	0.83932	GCG		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33895352	G	A	33895352	3	1	225	1	0	0	0	0	1	0	0	0	13770	1087	38	1	2021	1	RYR3	15	33895352	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		33895352	68636040	60	15728											
MFAP1	4236	broad.mit.edu	37	chr15	44105497	44105497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgcgttttgcttcctgctCcagctccttctgtttcaatg	4	17	7	13	1	2	0	1	0	1	0	5	0	5	0	3	0	4	5	3	0	1	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:44105497C>G	ENST00000267812.3	-	5	908	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	226					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTCCTGCTCCAGCTCCTTC	0.483																																						uc001zth.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(676-678)Gag>Cag		Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.							361	304	323					15																	44105497		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44105497C>G		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.676G>C	15.37:g.44105497C>G	ENSP00000267812:p.Glu226Gln						p.E226Q	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	4	860	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	226					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.676G>C	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045385	0.93685	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.80508	2.5	0.80722	D	1	D	0.59767	0.986	P	0.60117	0.869	T	0.77749	-0.2471	9	0.42905	T	0.14	-20.1432	19.9085	0.97016	0.0:1.0:0.0:0.0	.	226	P55081	MFAP1_HUMAN	Q	226	.	ENSP00000267812:E226Q	E	-	1	0	MFAP1	41892789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.873000	0.98535	0.563000	0.77884	GAG		0.483	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		G	44105497	C	G	44105497	3	3	225	1	0	0	0	0	1	0	0	0	9513	864	30	5	663	5	MFAP1	15	44105497	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	10210145	44105497	58425895	61	15729											
STUB1	339123	broad.mit.edu	37	chr16	731823	731823	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccagcgaaaccacgaGggtgatgaggacgacagcca	13	3	15	10	3	0	2	0	2	0	0	0	7	0	3	3	2	4	0	3	2	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:731823G>T	ENST00000293882.4	-	0	1975				STUB1_ENST00000566181.2_3'UTR|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000565677.1_Missense_Mutation_p.E113D|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E113D|STUB1_ENST00000219548.4_Missense_Mutation_p.E185D|LA16c-313D11.9_ENST00000571933.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						GAAACCACGAGGGTGATGAGG	0.637																																						uc002cit.3																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(553-555)gaG>gaT		Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.							40	41	41					16																	731823		2199	4300	6499	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731823G>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*971C>A	16.37:g.731823G>T						STUB1_uc002ciu.3_Missense_Mutation_p.E113D|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.E185D	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			3	966	+		Hepatocellular(780;0.00335)	185					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.555G>T		.	.	.	.	.	.	.	.	.	.	G	6.834	0.523035	0.13066	.	.	ENSG00000103266	ENST00000219548	T	0.15017	2.46	4.15	0.652	0.17823	.	0.113372	0.38959	N	0.001514	T	0.07098	0.0180	N	0.11000	0.08	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35226	-0.9797	10	0.15066	T	0.55	-30.1746	8.0509	0.30577	0.4015:0.0:0.5985:0.0	.	185	Q9UNE7	CHIP_HUMAN	D	185	ENSP00000219548:E185D	ENSP00000219548:E185D	E	+	3	2	STUB1	671824	0.975000	0.34042	0.994000	0.49952	0.731000	0.41821	0.020000	0.13466	0.070000	0.16634	0.549000	0.68633	GAG		0.637	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		T	731823	G	T	731823	1	4	225	0	1	0	0	0	0	0	0	0	15334	991	35	5		5	STUB1	16	731823	3'UTR	SNP	G	TCGA-32-1982-01A-01D-1494-08		731823	89622930	62	15730											
SEC14L5	9717	broad.mit.edu	37	chr16	5053502	5053502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattgaggtggttgaggaCaattacccagagaccctggg	11	9	14	7	0	0	4	0	3	0	1	0	6	0	5	2	4	1	1	2	4	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:5053502C>A	ENST00000251170.7	+	11	1410	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	410	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGTTGAGGACAATTACCCAG	0.647																																						uc002cye.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1228-1230)gaC>gaA		Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.							44	51	49					16																	5053502		1936	4161	6097	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053502C>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1230C>A	16.37:g.5053502C>A	ENSP00000251170:p.Asp410Glu						p.D410E	NM_014692	NP_055507	O43304	S14L5_HUMAN			10	1410	+			410			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1230C>A	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556487	0.27827	.	.	ENSG00000103184	ENST00000251170	T	0.75589	-0.95	4.5	4.5	0.54988	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.342957	0.26684	N	0.023039	T	0.58779	0.2146	N	0.16567	0.415	0.38465	D	0.947324	B	0.27264	0.173	B	0.35770	0.21	T	0.54728	-0.8250	10	0.10111	T	0.7	-15.4065	10.955	0.47351	0.0:0.9141:0.0:0.0859	.	410	O43304	S14L5_HUMAN	E	410	ENSP00000251170:D410E	ENSP00000251170:D410E	D	+	3	2	SEC14L5	4993503	0.997000	0.39634	1.000000	0.80357	0.670000	0.39368	0.563000	0.23547	2.341000	0.79615	0.555000	0.69702	GAC		0.647	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			A	5053502	C	A	5053502	3	1	225	1	0	0	0	0	1	0	0	0	13985	477	17	5	1268	5	SEC14L5	16	5053502	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	4321679	5053502	85301251	63	15731											
SMG1	23049	broad.mit.edu	37	chr16	18875017	18875018	+	Frame_Shift_Del	DEL	GT	GT	-																															ggttgagggaagtgctactgGtactctttttcaagtcatgg																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:18875017_18875018delGT	ENST00000446231.2	-	25	4061_4062	c.3649_3650delAC	c.(3649-3651)accfs	p.T1217fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.T1217fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1217	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGCTACTGGTACTCTTTTTC	0.366																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(3649-3651)accfs		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.																																				SO:0001589	frameshift_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18875017_18875018delGT	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3649_3650delAC	16.37:g.18875017_18875018delGT	ENSP00000402515:p.Thr1217fs					SMG1_uc010bwb.3_Frame_Shift_Del_p.T1077fs	p.T1217fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			24	4012_4013	-			1217			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	c.3649_3650delAC	CCDS45430.1																																																																																				0.366	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		-	18875018	GT	-	18875017	7	5	225	1	0	1	0	1	0	0	0	0	14795	1261	44	0	7491	0	SMG1	16	18875017	Frame_Shift_Del	DEL	GT	TCGA-32-1982-01A-01D-1494-08	13821515	18875017	71479736	64	15732											
IL4R	3566	broad.mit.edu	37	chr16	27363906	27363906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaccctccctccgcatcGcagccagcaccctgaagtct	9	7	7	18	2	1	2	0	1	1	1	4	2	3	2	5	0	3	3	5	0	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:27363906G>A	ENST00000395762.2	+	7	818	c.559G>A	c.(559-561)Gca>Aca	p.A187T	IL4R_ENST00000449195.1_Missense_Mutation_p.A187T|IL4R_ENST00000543915.2_Missense_Mutation_p.A187T|IL4R_ENST00000380922.3_Missense_Mutation_p.A172T|IL4R_ENST00000170630.2_Missense_Mutation_p.A187T	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	187	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTCCGCATCGCAGCCAGCAC	0.592																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(559-561)Gca>Aca		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							101	96	98					16																	27363906		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363906G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.559G>A	16.37:g.27363906G>A	ENSP00000379111:p.Ala187Thr					IL4R_uc002dom.3_Missense_Mutation_p.A187T|IL4R_uc002dop.4_Missense_Mutation_p.A172T|IL4R_uc010bxy.3_Missense_Mutation_p.A187T|IL4R_uc002doo.3_Missense_Mutation_p.A27T	p.A187T	NM_000418	NP_000409	P24394	IL4RA_HUMAN			6	801	+			187			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.559G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477986	0.01035	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	3.37	-6.74	0.01743	Fibronectin, type III (3);Immunoglobulin-like fold (1);	16.885200	0.00166	N	0.000000	T	0.41627	0.1167	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17852	0.019;0.024;0.024;0.009	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.46414	-0.9193	10	0.07990	T	0.79	-14.9963	7.9007	0.29734	0.1468:0.5523:0.2132:0.0877	.	172;187;187;187	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	T	187;187;187;187;172;187	ENSP00000410322:A187T;ENSP00000379111:A187T;ENSP00000441667:A187T;ENSP00000370309:A172T;ENSP00000170630:A187T	ENSP00000170630:A187T	A	+	1	0	IL4R	27271407	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.128000	0.01314	-3.824000	0.00102	-2.590000	0.00165	GCA		0.592	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27363906	G	A	27363906	3	1	225	1	0	0	0	0	1	0	0	0	7698	1087	38	1	577	1	IL4R	16	27363906	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	8488889	27363906	62990847	65	15733											
MT1E	4493	broad.mit.edu	37	chr16	56660826	56660826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgtgggctgtgccaaGtgtgcccagggctgcgtctg	3	9	16	13	2	1	0	0	0	1	0	1	0	1	0	4	2	4	2	4	2	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:56660826G>A	ENST00000306061.6	+	3	506	c.129G>A	c.(127-129)aaG>aaA	p.K43K	MT1E_ENST00000568293.1_Silent_p.K21K|MT1E_ENST00000330439.6_3'UTR	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	43	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										GCTGTGCCAAGTGTGCCCAGG	0.597																																						uc002ejm.3																			0													Homo sapiens metallothionein 1E (MT1E), mRNA.							142	135	138					16																	56660826		2198	4300	6498	SO:0001819	synonymous_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56660826G>A	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"Metallothioneins"	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.129G>A	16.37:g.56660826G>A						MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Intron|MT1E_uc002ejl.3_Silent_p.K43K				P04732	MT1E_HUMAN			1		+								A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	37		CCDS10764.2																																																																																				0.597	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		A	56660826	G	A	56660826	2	1	225	1	0	0	0	0	0	0	0	1	9899	1020	36	3		3	MT1E	16	56660826	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	29296920	56660826	33693927	66	15734											
SETD6	79918	broad.mit.edu	37	chr16	58552049	58552049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggcaactgattcataTgtacggttttgttgaaccat	11	15	8	7	1	1	2	1	2	0	0	1	2	1	2	1	2	4	4	1	2	5	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:58552049T>C	ENST00000219315.4	+	6	937	c.887T>C	c.(886-888)aTg>aCg	p.M296T	SETD6_ENST00000310682.2_Missense_Mutation_p.M272T|SETD6_ENST00000394266.4_Missense_Mutation_p.M227T|SETD6_ENST00000418480.1_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	296					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGATTCATATGTACGGTTTT	0.448																																						uc002ens.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(886-888)aTg>aCg		Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.							166	135	146					16																	58552049		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552049T>C	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.887T>C	16.37:g.58552049T>C	ENSP00000219315:p.Met296Thr					SETD6_uc021tjh.1_3'UTR|SETD6_uc002enr.3_Missense_Mutation_p.M272T|SETD6_uc010cdm.3_Non-coding_Transcript	p.M296T	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN			5	946	+			296					A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.887T>C	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615567	0.66672	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.12984	2.63;2.63;2.63	5.72	5.72	0.89469	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.66939	2.045	0.80722	D	1	P;D	0.60160	0.916;0.987	B;D	0.64144	0.407;0.922	T	0.04961	-1.0915	10	0.17369	T	0.5	-15.2001	15.1896	0.73032	0.0:0.0:0.0:1.0	.	296;272	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	T	272;227;296	ENSP00000310082:M272T;ENSP00000377809:M227T;ENSP00000219315:M296T	ENSP00000219315:M296T	M	+	2	0	SETD6	57109550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.526000	0.81920	2.172000	0.68678	0.528000	0.53228	ATG		0.448	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		C	58552049	T	C	58552049	3	2	225	1	0	0	0	0	1	0	0	0	14135	1464	51	4	909	4	SETD6	16	58552049	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	1891223	58552049	31802704	67	15735											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477049	67477049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgttcatctcgtcaaggtCctgctctgaaatgcagtcct	8	13	9	11	1	4	1	2	1	2	0	7	2	6	1	2	1	2	3	2	1	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:67477049C>T	ENST00000290949.3	-	4	664	c.514G>A	c.(514-516)Gac>Aac	p.D172N	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.D213N|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.D95N|ATP6V0D1_ENST00000567694.1_5'Flank	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	172					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCGTCAAGGTCCTGCTCTGAA	0.562																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(637-639)Gac>Aac		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							157	143	148					16																	67477049		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67477049C>T	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.514G>A	16.37:g.67477049C>T	ENSP00000290949:p.Asp172Asn					ATP6V0D1_uc002ete.1_Missense_Mutation_p.D172N|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.D95N	p.D213N	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	4	737	-		Ovarian(137;0.0563)	172					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.637G>A	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322747	0.81580	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.33654	1.4;1.4	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.989	T	0.72600	-0.4244	10	0.49607	T	0.09	-34.6226	18.0989	0.89499	0.0:1.0:0.0:0.0	.	213;172	F5GYQ1;P61421	.;VA0D1_HUMAN	N	172;95;213	ENSP00000290949:D172N;ENSP00000441282:D213N	ENSP00000290949:D172N	D	-	1	0	ATP6V0D1	66034550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.096000	0.71446	2.640000	0.89533	0.655000	0.94253	GAC		0.562	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		T	67477049	C	T	67477049	3	4	225	1	0	0	0	0	1	0	0	0	1173	855	30	3	561	3	ATP6V0D1	16	67477049	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8925000	67477049	22877704	68	15736											
CDH1	999	broad.mit.edu	37	chr16	68855965	68855965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgatgtgaatgacaaCgcccccataccagaacctcg	11	8	8	14	2	1	4	0	3	1	1	2	4	1	4	4	0	3	0	4	0	4	1	rs373719554		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:68855965C>T	ENST00000261769.5	+	12	1964	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.N530N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	591	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAATGACAACGCCCCCATAC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				c|||	1	0.000199681	8e-04	0	5008	,	,		21210	0		0	False		,,,				2504	0					uc002ewg.1			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1771-1773)aaC>aaT		Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.							134	122	126					16																	68855965		2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68855965C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1773C>T	16.37:g.68855965C>T						CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.N530N	p.N591N	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	11	1897	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	591			Cadherin 4.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1773C>T	CCDS10869.1																																																																																				0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		T	68855965	C	T	68855965	2	4	225	1	0	0	0	0	0	0	0	1	3095	535	19	1		1	CDH1	16	68855965	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	1378916	68855965	21498788	69	15737											
DNAH2	146754	broad.mit.edu	37	chr17	7663139	7663139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacccactctgcagactttgGcaggtgtggtcaatgacatt	9	11	10	11	0	2	2	1	1	1	1	2	2	2	2	1	3	1	2	1	3	1	2	rs112194246		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:7663139G>A	ENST00000572933.1	+	17	4128	c.2668G>A	c.(2668-2670)Gca>Aca	p.A890T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A890T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	890	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGACTTTGGCAGGTGTGGT	0.522																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2668-2670)Gca>Aca		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							240	214	223					17																	7663139		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663139G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2668G>A	17.37:g.7663139G>A	ENSP00000458355:p.Ala890Thr						p.A890T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			15	2682	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	890			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2668G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075764	0.36662	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22945	1.93	5.35	5.35	0.76521	.	0.231776	0.34484	N	0.003931	T	0.19725	0.0474	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.17098	0.017	T	0.05852	-1.0860	10	0.18276	T	0.48	.	12.8786	0.58003	0.0:0.0:0.837:0.163	.	890	Q9P225	DYH2_HUMAN	T	890	ENSP00000373825:A890T	ENSP00000353818:A890T	A	+	1	0	DNAH2	7603864	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	6.085000	0.71343	2.519000	0.84933	0.491000	0.48974	GCA		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7663139	G	A	7663139	3	1	225	1	0	0	0	0	1	0	0	0	4602	1203	42	3	2730	3	DNAH2	17	7663139	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		7663139	73532071	70	15738											
ZNF624	57547	broad.mit.edu	37	chr17	16526500	16526500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtataattagagaagaagaaCgcatgaaggcctttccacat	16	9	9	7	1	0	4	0	1	0	3	1	5	1	4	2	1	1	2	2	1	7	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:16526500C>T	ENST00000311331.7	-	6	1791	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAGAAGAACGCATGAAGGC	0.368																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.2																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(1699-1701)cGt>cAt		Homo sapiens zinc finger protein 624 (ZNF624), mRNA.							100	107	105					17																	16526500		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526500C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1700G>A	17.37:g.16526500C>T	ENSP00000310472:p.Arg567His					ZNF624_uc021tre.1_Missense_Mutation_p.R441H	p.R567H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	1792	-			567					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1700G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702264	0.15172	.	.	ENSG00000197566	ENST00000311331	T	0.05580	3.42	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.25647	0.755	0.22926	N	0.998556	P	0.44241	0.829	B	0.21360	0.034	T	0.40608	-0.9554	9	0.16420	T	0.52	.	11.985	0.53142	0.0:1.0:0.0:0.0	.	567	Q9P2J8	ZN624_HUMAN	H	567	ENSP00000310472:R567H	ENSP00000310472:R567H	R	-	2	0	ZNF624	16467225	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.734000	0.04893	1.907000	0.55213	0.561000	0.74099	CGT		0.368	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		T	16526500	C	T	16526500	3	4	225	1	0	0	0	0	1	0	0	0	18045	536	19	1	901	1	ZNF624	17	16526500	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8863361	16526500	64668710	71	15739											
RAD51C	5889	broad.mit.edu	37	chr17	56772380	56772380	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaagatatgctggtacAtctgagtcacacaagaagtg	16	8	9	8	0	2	3	1	1	1	2	2	3	2	3	1	1	3	2	1	1	6	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:56772380A>G	ENST00000337432.4	+	2	305	c.234A>G	c.(232-234)acA>acG	p.T78T	RAD51C_ENST00000583539.1_Silent_p.T78T|TEX14_ENST00000349033.5_5'Flank|TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Silent_p.T78T|TEX14_ENST00000240361.8_5'Flank	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	78	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGCTGGTACATCTGAGTCAC	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.3																			0				upper_aerodigestive_tract(1)	1						c.(232-234)acA>acG	Homologous recombination	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.							101	98	99					17																	56772380		2203	4300	6503	SO:0001819	synonymous_variant	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56772380A>G	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.234A>G	17.37:g.56772380A>G						TEX14_uc010dcz.2_5'Flank|TEX14_uc002iwr.2_5'Flank|TEX14_uc002iws.2_5'Flank|TEX14_uc010dda.2_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript|RAD51C_uc010wob.1_Non-coding_Transcript	p.T78T	NM_058216	NP_478123	O43502	RA51C_HUMAN			1	276	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		78					O43503|Q3B783	Silent	SNP	ENST00000337432.4	37	c.234A>G	CCDS11611.1																																																																																				0.398	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		G	56772380	A	G	56772380	2	3	225	1	0	0	0	0	0	0	0	1	12988	204	8	4		4	RAD51C	17	56772380	Silent	SNP	A	TCGA-32-1982-01A-01D-1494-08	40245880	56772380	24422830	72	15740											
ACE	1636	broad.mit.edu	37	chr17	61554654	61554654	+	Frame_Shift_Del	DEL	G	G	-																															tgctgttccagagcgtggccGccagctgggcgcacgacacc																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:61554654delG	ENST00000290866.4	+	1	223	c.199delG	c.(199-201)gccfs	p.A67fs	ACE_ENST00000538928.1_Frame_Shift_Del_p.A67fs|ACE_ENST00000428043.1_Frame_Shift_Del_p.A67fs|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	67	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCGTGGCCGCCAGCTGGGC	0.726																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(199-201)gccfs		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						5	4	5					17																	61554654		2013	3983	5996	SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61554654delG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.199delG	17.37:g.61554654delG	ENSP00000290866:p.Ala67fs					ACE_uc010wph.2_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.2_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.2_5'UTR	p.A67fs	NM_000789	NP_000780	P12821	ACE_HUMAN			0	233	+			67			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	ENST00000290866.4	37	c.199delG	CCDS11637.1																																																																																				0.726	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			-	61554654	G	-	61554654	7	5	225	1	0	1	0	1	0	0	0	0	136	1087	38	0	201	0	ACE	17	61554654	Frame_Shift_Del	DEL	G	TCGA-32-1982-01A-01D-1494-08	4782274	61554654	19640556	73	15741											
CTDP1	9150	broad.mit.edu	37	chr18	77457977	77457977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcagcactgtcagcagAtgtcgaataaagtgagtgca	13	7	12	9	2	1	2	1	1	0	1	2	4	1	2	1	0	4	4	1	0	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr18:77457977A>G	ENST00000299543.7	+	4	757	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	CTDP1_ENST00000075430.7_Missense_Mutation_p.M204V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	204	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGTCAGCAGATGTCGAATAA	0.493																																						uc002lnh.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(610-612)Atg>Gtg		Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.							93	80	84					18																	77457977		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77457977A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.610A>G	18.37:g.77457977A>G	ENSP00000299543:p.Met204Val					CTDP1_uc002lni.2_Missense_Mutation_p.M204V|CTDP1_uc010drd.2_Missense_Mutation_p.M204V|CTDP1_uc021ult.1_Missense_Mutation_p.M85V	p.M204V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	3	757	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	204			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.610A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124987	0.77436	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.16073	2.37;2.37	4.91	4.91	0.64330	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.31845	0.965	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.80764	0.99;0.99;0.994	T	0.03043	-1.1079	10	0.51188	T	0.08	-46.9458	14.8347	0.70175	1.0:0.0:0.0:0.0	.	85;204;204	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	V	204	ENSP00000299543:M204V;ENSP00000075430:M204V	ENSP00000075430:M204V	M	+	1	0	CTDP1	75558965	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.189000	0.89712	1.967000	0.57214	0.533000	0.62120	ATG		0.493	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		G	77457977	A	G	77457977	3	3	225	1	0	0	0	0	1	0	0	0	4002	333	12	4	624	4	CTDP1	18	77457977	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08		77457977	619271	74	15742											
ATP8B3	148229	broad.mit.edu	37	chr19	1792112	1792112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggccaggcacagtgtcCgcagggtctcctgggcaaag	8	7	15	11	1	1	0	0	0	1	0	3	0	2	0	3	4	0	4	3	4	2	1	rs547170926		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:1792112C>T	ENST00000310127.6	-	19	2316	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	ATP8B3_ENST00000539485.1_Missense_Mutation_p.R693Q|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R646Q	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	693					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTGTCCGCAGGGTCTC	0.677													.|||	1	0.000199681	0	0	5008	,	,		14274	0		0	False		,,,				2504	0.001					uc002ltw.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2077-2079)cGg>cAg		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.																																				SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1792112C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2078G>A	19.37:g.1792112C>T	ENSP00000311336:p.Arg693Gln					ATP8B3_uc002ltv.3_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.3_Non-coding_Transcript	p.R693Q	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2312	-		Hepatocellular(1079;0.137)	693					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2078G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144234	0.94603	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.87256	-2.23;-2.23;-2.23	4.58	4.58	0.56647	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	H	0.98005	4.125	0.40913	D	0.984249	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98319	1.0527	10	0.87932	D	0	.	15.9241	0.79603	0.0:1.0:0.0:0.0	.	693;646	O60423;Q7Z485	AT8B3_HUMAN;.	Q	693;693;646	ENSP00000311336:R693Q;ENSP00000443574:R693Q;ENSP00000437115:R646Q	ENSP00000311336:R693Q	R	-	2	0	ATP8B3	1743112	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	7.693000	0.84214	2.094000	0.63399	0.561000	0.74099	CGG		0.677	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1792112	C	T	1792112	3	4	225	1	0	0	0	0	1	0	0	0	1196	652	23	2	1898	2	ATP8B3	19	1792112	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		1792112	57336871	75	15743											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668748	8668748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcaggtactcttcctcGtctgccacgatcaggccgtg	7	11	9	14	3	5	0	3	0	2	0	7	1	6	0	3	2	2	1	3	2	2	2	rs371629978		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:8668748G>A	ENST00000597188.1	-	5	726	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.D152D	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	152						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572																																						uc002mkj.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(454-456)gaC>gaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.		G		0,4406		0,0,2203	78	70	73		456	-3.9	0.8	19		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS10	NM_030957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/1104	8668748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668748G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.456C>T	19.37:g.8668748G>A						ADAMTS10_uc002mkk.1_5'UTR	p.D152D	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			4	730	-			152					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.456C>T	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		A	8668748	G	A	8668748	2	1	225	1	0	0	0	0	0	0	0	1	256	1136	40	1		1	ADAMTS10	19	8668748	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	6876636	8668748	50460235	76	15744											
MUC16	94025	broad.mit.edu	37	chr19	9058871	9058871	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcctctgtagcactggtGgtttccacatgggacgctgc	6	12	12	11	1	1	0	0	0	1	0	3	1	3	1	2	3	2	5	2	3	1	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:9058871G>T	ENST00000397910.4	-	3	28778	c.28575C>A	c.(28573-28575)acC>acA	p.T9525T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9527	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCACTGGTGGTTTCCACAT	0.478																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28573-28575)acC>acA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							128	126	126					19																	9058871		1975	4165	6140	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058871G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28575C>A	19.37:g.9058871G>T							p.T9525T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	28779	-			9527			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28575C>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9058871	G	T	9058871	2	4	225	1	0	0	0	0	0	0	0	1	9973	1335	47	5		5	MUC16	19	9058871	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	390123	9058871	50070112	77	15745											
IL12RB1	3594	broad.mit.edu	37	chr19	18184347	18184347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctttcagggtcagccGcctcctcccatcctggccca	4	10	8	19	1	3	0	2	0	1	0	6	0	6	0	6	2	2	1	6	2	0	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:18184347G>A	ENST00000600835.2	-	9	1061	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	IL12RB1_ENST00000322153.7_Missense_Mutation_p.R255W|IL12RB1_ENST00000593993.2_Missense_Mutation_p.R255W			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	255	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGGTCAGCCGCCTCCTCCCA	0.602																																						uc002nhx.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(883-885)Cgg>Tgg		Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.							49	40	43					19																	18184347		2203	4300	6503	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18184347G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.763C>T	19.37:g.18184347G>A	ENSP00000470788:p.Arg255Trp					IL12RB1_uc002nhw.1_Missense_Mutation_p.R255W|IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhy.3_Missense_Mutation_p.R255W	p.R295W	NM_005535	NP_005526	P42701	I12R1_HUMAN			8	934	-			255			Fibronectin type-III 3.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.883C>T	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492547	0.26774	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.59502	0.26;0.26	3.2	-0.487	0.12060	.	1.840930	0.03047	N	0.154130	T	0.63486	0.2515	L	0.40543	1.245	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.57679	0.804;0.825;0.642	T	0.55075	-0.8197	10	0.72032	D	0.01	-0.0455	8.8582	0.35240	0.0:0.0:0.41:0.59	.	255;255;255	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	W	255	ENSP00000403103:R255W;ENSP00000314425:R255W	ENSP00000314425:R255W	R	-	1	2	IL12RB1	18045347	0.000000	0.05858	0.022000	0.16811	0.013000	0.08279	0.485000	0.22324	0.023000	0.15187	-0.314000	0.08810	CGG		0.602	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18184347	G	A	18184347	3	1	225	1	0	0	0	0	1	0	0	0	7626	1086	38	1	1394	1	IL12RB1	19	18184347	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	9125476	18184347	40944636	78	15746											
ZNF257	113835	broad.mit.edu	37	chr19	22271312	22271312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaggtaattcatactagaGagaaaccctacaaatgtgaa	19	9	7	6	0	1	3	1	1	0	2	1	4	1	3	1	1	3	1	1	1	8	6	rs371623333		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:22271312G>A	ENST00000594947.1	+	4	904	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATACTAGAGAGAAACCCTA	0.388																																						uc010ecx.3																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(760-762)Gag>Aag		Homo sapiens zinc finger protein 257 (ZNF257), mRNA.		G	LYS/GLU	0,4230		0,0,2115	37	40	39		760	1.1	0	19		39	2,8514		0,2,4256	no	missense	ZNF257	NM_033468.2	56	0,2,6371	AA,AG,GG		0.0235,0.0,0.0157	benign	254/564	22271312	2,12744	2115	4258	6373	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271312G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.760G>A	19.37:g.22271312G>A	ENSP00000470209:p.Glu254Lys					ZNF257_uc010ecy.3_Missense_Mutation_p.E222K	p.E254K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			3	929	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	254					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.760G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795155	0.31777	0.0	2.35E-4	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52901	0.1763	M	0.78049	2.395	0.29471	N	0.857023	B	0.23735	0.09	B	0.31495	0.131	T	0.55872	-0.8072	8	0.56958	D	0.05	.	6.8003	0.23748	0.0:0.2954:0.7046:0.0	.	254	Q9Y2Q1	ZN257_HUMAN	K	254;226	.	ENSP00000380312:E226K	E	+	1	0	ZNF257	22063152	0.967000	0.33354	0.018000	0.16275	0.091000	0.18340	1.490000	0.35573	0.518000	0.28383	0.313000	0.20887	GAG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			A	22271312	G	A	22271312	3	1	225	1	0	0	0	0	1	0	0	0	17797	943	33	3	774	3	ZNF257	19	22271312	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	4086965	22271312	36857671	79	15747											
MEIS3	56917	broad.mit.edu	37	chr19	47920129	47920129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcacctccagggggtgTccccagcccagctccggccc	5	5	12	19	2	1	0	1	0	0	0	4	1	4	0	7	3	2	1	7	3	0	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:47920129T>C	ENST00000558555.1	-	3	464	c.277A>G	c.(277-279)Aca>Gca	p.T93A	MEIS3_ENST00000331559.5_Missense_Mutation_p.T93A|MEIS3_ENST00000441740.2_Missense_Mutation_p.T93A|MEIS3_ENST00000561293.1_Missense_Mutation_p.T93A|MEIS3_ENST00000559524.1_Missense_Mutation_p.T93A|MEIS3_ENST00000561096.1_Missense_Mutation_p.T181A			Q99687	MEIS3_HUMAN	Meis homeobox 3	93					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCAGGGGGTGTCCCCAGCCCA	0.632																																						uc002pgq.3																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(520-522)Aca>Gca		Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.							29	31	30					19																	47920129		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47920129T>C	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.277A>G	19.37:g.47920129T>C	ENSP00000454073:p.Thr93Ala					MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Missense_Mutation_p.T93A|MEIS3_uc002pgt.3_Missense_Mutation_p.T93A|MEIS3_uc010eld.3_Missense_Mutation_p.T93A|MEIS3_uc002pgw.3_3'UTR	p.T174A	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	2	586	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	93					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.520A>G		.	.	.	.	.	.	.	.	.	.	T	2.008	-0.427868	0.04701	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.33865	1.39;1.39	3.43	-1.77	0.07982	.	0.409630	0.22679	N	0.056977	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.08953	-1.0697	10	0.34782	T	0.22	-3.2356	3.3961	0.07307	0.3451:0.3649:0.0:0.29	.	2;93;93;93	Q8TCW1;Q99687;Q99687-3;Q99687-2	.;MEIS3_HUMAN;.;.	A	93	ENSP00000333552:T93A;ENSP00000388667:T93A	ENSP00000333552:T93A	T	-	1	0	MEIS3	52611941	0.000000	0.05858	0.027000	0.17364	0.013000	0.08279	-1.127000	0.03251	-0.425000	0.07371	0.397000	0.26171	ACA		0.632	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		C	47920129	T	C	47920129	3	2	225	1	0	0	0	0	1	0	0	0	9469	1667	58	4	1028	4	MEIS3	19	47920129	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	25648817	47920129	11208854	80	15748											
KLK6	5653	broad.mit.edu	37	chr19	51462468	51462468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttcgtgtatctgcagacGttggtgtagactcctggctt	6	14	12	9	2	1	2	0	0	1	2	3	2	2	2	1	2	1	6	1	2	2	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:51462468G>A	ENST00000376851.3	-	6	1126	c.687C>T	c.(685-687)aaC>aaT	p.N229N	KLK6_ENST00000310157.2_Silent_p.N229N|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.N229N|KLK6_ENST00000456750.2_Silent_p.N122N|KLK6_ENST00000391808.1_Silent_p.N122N|KLK6_ENST00000376853.4_Missense_Mutation_p.T101M|CTB-147C22.8_ENST00000594939.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATCTGCAGACGTTGGTGTAGA	0.547																																						uc002puh.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(712-714)aaC>aaT		Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.							403	374	384					19																	51462468		2203	4300	6503	SO:0001819	synonymous_variant	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462468G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.687C>T	19.37:g.51462468G>A						KLK6_uc010eoj.3_Missense_Mutation_p.T101M|KLK6_uc002pui.3_Silent_p.N229N|KLK6_uc002puj.3_Silent_p.N122N|KLK6_uc010ycn.2_Silent_p.N122N|KLK6_uc002pul.3_Silent_p.N229N|KLK6_uc002pum.3_Silent_p.N122N	p.N238N	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	779	-		all_neural(266;0.026)	229			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	c.714C>T	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	0.501	-0.870983	0.02570	.	.	ENSG00000167755	ENST00000376853	D	0.83250	-1.7	3.89	-7.77	0.01227	.	.	.	.	.	T	0.68192	0.2974	.	.	.	0.49051	D	0.99974	B	0.13145	0.007	B	0.10450	0.005	T	0.27400	-1.0075	8	0.54805	T	0.06	.	3.9326	0.09292	0.5537:0.1808:0.1744:0.0911	.	101	E7ETY0	.	M	101	ENSP00000366049:T101M	ENSP00000366049:T101M	T	-	2	0	KLK6	56154280	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-6.636000	0.00058	-2.615000	0.00443	-3.912000	0.00016	ACG		0.547	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		A	51462468	G	A	51462468	2	1	225	1	0	0	0	0	0	0	0	1	8408	1136	40	1		1	KLK6	19	51462468	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3542339	51462468	7666515	81	15749											
NLRP13	126204	broad.mit.edu	37	chr19	56423179	56423179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcttggagttcttcGtcctccaaaatattaaggtc	12	12	9	8	1	1	1	0	0	1	1	5	3	3	2	2	2	1	2	2	2	6	5	rs140606375		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:56423179G>A	ENST00000342929.3	-	5	2003	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	NLRP13_ENST00000588751.1_Silent_p.D668D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	668							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAGTTCTTCGTCCTCCAAAA	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		19758	0		0	False		,,,				2504	0					uc010ygg.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2002-2004)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.		G		5,4401	9.9+/-24.2	0,5,2198	95	97	96		2004	-4.7	0	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	NLRP13	NM_176810.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		668/1044	56423179	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423179G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2004C>T	19.37:g.56423179G>A							p.D668D	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	4	2029	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	668					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2004C>T	CCDS33119.1																																																																																				0.408	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56423179	G	A	56423179	2	1	225	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56423179	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	4960711	56423179	2705804	82	15750											
ZNF543	125919	broad.mit.edu	37	chr19	57840542	57840542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacagatgtgggaagacCttttatgactgcacagactt	12	12	10	7	0	0	4	0	1	0	3	0	5	0	5	1	1	2	2	1	1	3	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:57840542C>T	ENST00000321545.4	+	4	2057	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGACCTTTTATGACT	0.418																																						uc002qoi.2																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1711-1713)cCt>cTt		Homo sapiens zinc finger protein 543 (ZNF543), mRNA.							92	85	88					19																	57840542		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840542C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1712C>T	19.37:g.57840542C>T	ENSP00000322545:p.Pro571Leu						p.P571L	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	2069	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	571					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1712C>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264831	0.23136	.	.	ENSG00000178229	ENST00000321545	T	0.06294	3.32	2.45	1.38	0.22167	.	.	.	.	.	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	P	0.51057	0.941	P	0.47864	0.559	T	0.35226	-0.9797	9	0.66056	D	0.02	.	5.5128	0.16890	0.0:0.6616:0.2116:0.1268	.	571	Q08ER8	ZN543_HUMAN	L	571	ENSP00000322545:P571L	ENSP00000322545:P571L	P	+	2	0	ZNF543	62532354	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	-0.157000	0.10085	0.570000	0.29347	0.462000	0.41574	CCT		0.418	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		T	57840542	C	T	57840542	3	4	225	1	0	0	0	0	1	0	0	0	17973	681	24	3	1726	3	ZNF543	19	57840542	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	1417363	57840542	1288441	83	15751											
JPH2	57158	broad.mit.edu	37	chr20	42788505	42788505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcggaggccactggagcGttcgctcacgccgaagcccg	7	5	15	14	6	1	0	1	0	0	0	2	3	1	2	3	3	3	3	3	3	2	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr20:42788505G>A	ENST00000372980.3	-	2	1794	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	308					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTGGAGCGTTCGCTCACG	0.672																																						uc002xli.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(922-924)Cgc>Tgc		Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.							58	50	53					20																	42788505		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788505G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.922C>T	20.37:g.42788505G>A	ENSP00000362071:p.Arg308Cys						p.R308C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1795	-		Myeloproliferative disorder(115;0.0122)	308					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.922C>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646204	0.47258	.	.	ENSG00000149596	ENST00000372980	T	0.53857	0.6	3.1	3.1	0.35709	.	0.063075	0.64402	D	0.000006	T	0.63977	0.2557	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68330	-0.5437	10	0.66056	D	0.02	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	308	Q9BR39	JPH2_HUMAN	C	308	ENSP00000362071:R308C	ENSP00000362071:R308C	R	-	1	0	JPH2	42221919	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	2.930000	0.48924	1.545000	0.49373	0.298000	0.19748	CGC		0.672	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			A	42788505	G	A	42788505	3	1	225	1	0	0	0	0	1	0	0	0	7961	1145	40	1	1184	1	JPH2	20	42788505	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		42788505	20237015	84	15752											
COL6A2	1292	broad.mit.edu	37	chr21	47545189	47545189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcattgcaggagtgtgacGtcatgacctacgtgagggag	9	9	16	7	2	1	3	1	3	0	0	1	5	1	5	1	2	3	2	1	2	1	2	rs541785316	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr21:47545189G>A	ENST00000300527.4	+	24	1884	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	COL6A2_ENST00000409416.1_Missense_Mutation_p.V594I|COL6A2_ENST00000357838.4_Missense_Mutation_p.V594I|COL6A2_ENST00000397763.1_Missense_Mutation_p.V594I|COL6A2_ENST00000310645.5_Missense_Mutation_p.V594I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	594	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGTGTGACGTCATGACCTA	0.687													G|||	3	0.000599042	8e-04	0	5008	,	,		14208	0.001		0	False		,,,				2504	0.001					uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1780-1782)Gtc>Atc		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							104	102	103					21																	47545189		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545189G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1780G>A	21.37:g.47545189G>A	ENSP00000300527:p.Val594Ile					COL6A2_uc002zhz.1_Missense_Mutation_p.V594I|COL6A2_uc002zhy.1_Missense_Mutation_p.V594I	p.V594I	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	23	1862	+	Breast(49;0.245)		594			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1780G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.991074	0.35131	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;T	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-1.2	4.51	4.51	0.55191	.	0.199714	0.42821	D	0.000645	D	0.90277	0.6959	N	0.21324	0.655	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.987	P;P;P	0.56563	0.801;0.472;0.472	D	0.86980	0.2103	10	0.06236	T	0.91	-36.4997	12.7702	0.57417	0.0829:0.0:0.9171:0.0	.	594;594;594	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	I	594;594;594;594;594;135	ENSP00000300527:V594I;ENSP00000350497:V594I;ENSP00000312529:V594I;ENSP00000387115:V594I;ENSP00000380870:V594I;ENSP00000395751:V135I	ENSP00000300527:V594I	V	+	1	0	COL6A2	46369617	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.501000	0.81600	2.070000	0.61991	0.579000	0.79373	GTC		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47545189	G	A	47545189	3	1	225	1	0	0	0	0	1	0	0	0	3700	1145	40	1	1870	1	COL6A2	21	47545189	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		47545189	584706	85	15753											
CABIN1	23523	broad.mit.edu	37	chr22	24561503	24561503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtatgaccgcaggaagtAtctgcgagatgctgaccgcc	9	8	12	12	3	1	3	0	2	1	1	1	5	1	4	4	1	2	4	4	1	3	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:24561503A>G	ENST00000398319.2	+	31	5301	c.4916A>G	c.(4915-4917)tAt>tGt	p.Y1639C	CABIN1_ENST00000405822.2_Missense_Mutation_p.Y1560C|CABIN1_ENST00000263119.5_Missense_Mutation_p.Y1639C|CABIN1_ENST00000337989.7_Missense_Mutation_p.Y64C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1639					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGCAGGAAGTATCTGCGAGAT	0.612																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4915-4917)tAt>tGt		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							85	59	68					22																	24561503		2200	4300	6500	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24561503A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4916A>G	22.37:g.24561503A>G	ENSP00000381364:p.Tyr1639Cys					CABIN1_uc021wnc.1_Missense_Mutation_p.Y1589C|CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.2_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	p.Y1639C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			30	5043	+			1639					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.4916A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158504	0.78114	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000002	T	0.44973	0.1319	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.996	T	0.47302	-0.9128	10	0.87932	D	0	.	13.3317	0.60490	1.0:0.0:0.0:0.0	.	64;1560;1639	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	C	1639;1560;1639;64;64	ENSP00000263119:Y1639C;ENSP00000384694:Y1560C;ENSP00000381364:Y1639C;ENSP00000336991:Y64C	ENSP00000263119:Y1639C	Y	+	2	0	CABIN1	22891503	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.030000	0.93725	1.819000	0.53055	0.529000	0.55759	TAT		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		G	24561503	A	G	24561503	3	3	225	1	0	0	0	0	1	0	0	0	2528	449	16	4	5034	4	CABIN1	22	24561503	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08		24561503	26743063	86	15754											
CXorf59	286464	broad.mit.edu	37	chrX	36103536	36103536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatttatgatgtgctgctCcatttgagtggaaaaatgcc	11	13	9	8	0	0	2	0	2	0	0	1	3	1	3	3	1	3	2	3	1	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:36103536C>T	ENST00000313548.4	+	5	708	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	174						integral component of membrane (GO:0016021)											ATGTGCTGCTCCATTTGAGTG	0.353																																						uc004ddk.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.(520-522)ctC>ctT		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							90	85	87					X																	36103536		2202	4300	6502	SO:0001819	synonymous_variant	286464					integral to membrane		g.chrX:36103536C>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.522C>T	X.37:g.36103536C>T							p.L174L	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	708	+			174						Silent	SNP	ENST00000313548.4	37	c.522C>T	CCDS14238.1																																																																																				0.353	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		T	36103536	C	T	36103536	2	4	225	1	0	0	0	0	0	0	0	1	4115	842	30	3		3	CXorf59	23	36103536	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		36103536	119167024	87	15755											
HDAC6	10013	broad.mit.edu	37	chrX	48661362	48661362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaaatgaagaagctcGgccaagcaatggaagaagac	19	3	12	7	1	0	4	0	1	0	3	1	5	0	5	1	3	2	3	1	3	9	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:48661362G>A	ENST00000334136.5	+	3	356	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HDAC6_ENST00000444343.2_Missense_Mutation_p.G74S|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.G60S|HDAC6_ENST00000413163.2_Missense_Mutation_p.G5S			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	60					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAGAAGCTCGGCCAAGCAAT	0.488																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(178-180)Ggc>Agc		Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	Vorinostat(DB02546)						74	59	64					X																	48661362		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48661362G>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.178G>A	X.37:g.48661362G>A	ENSP00000334061:p.Gly60Ser					HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.4_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	p.G60S	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			2	273	+			60					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.178G>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	3.227	-0.158355	0.06544	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T	0.62364	0.38;0.38;0.38;0.03	4.42	3.31	0.37934	.	0.185457	0.44483	N	0.000451	T	0.26702	0.0653	N	0.02539	-0.55	0.21762	N	0.999554	B;B;B;B	0.15473	0.005;0.001;0.005;0.013	B;B;B;B	0.08055	0.001;0.0;0.001;0.003	T	0.30794	-0.9966	10	0.02654	T	1	-4.1002	5.8509	0.18691	0.8577:0.0:0.1423:0.0	.	50;5;60;60	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	S	60;60;74;60;60;60;60;5;60;60;60;60	ENSP00000398566:G74S;ENSP00000334061:G60S;ENSP00000365804:G60S;ENSP00000398801:G5S	ENSP00000334061:G60S	G	+	1	0	HDAC6	48546306	0.971000	0.33674	0.948000	0.38648	0.618000	0.37518	2.045000	0.41250	0.702000	0.31825	0.600000	0.82982	GGC		0.488	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48661362	G	A	48661362	3	1	225	1	0	0	0	0	1	0	0	0	7011	1116	39	2	184	2	HDAC6	23	48661362	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	12557826	48661362	106609198	88	15756											
SMC1A	8243	broad.mit.edu	37	chrX	53439144	53439144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcttgattttgtgggagGtgttctccttggctttgatg	3	19	13	6	0	2	2	0	2	2	0	3	3	2	3	1	3	0	3	1	3	0	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:53439144G>T	ENST00000322213.4	-	6	1041	c.914C>A	c.(913-915)aCc>aAc	p.T305N	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	305					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTGTGGGAGGTGTTCTCCTT	0.498																																						uc004dsg.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(913-915)aCc>aAc		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							102	84	90					X																	53439144		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439144G>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.914C>A	X.37:g.53439144G>T	ENSP00000323421:p.Thr305Asn					SMC1A_uc011moe.2_Missense_Mutation_p.T283N|SMC1A_uc011mof.2_Intron	p.T305N	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			5	983	-			305					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.914C>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475605	0.63737	.	.	ENSG00000072501	ENST00000322213	T	0.77750	-1.12	4.65	4.65	0.58169	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.64997	1.995	0.80722	D	1	D;P	0.67145	0.996;0.723	D;P	0.64237	0.923;0.541	D	0.86768	0.1971	10	0.62326	D	0.03	.	15.7658	0.78126	0.0:0.0:1.0:0.0	.	283;305	Q6MZR8;Q14683	.;SMC1A_HUMAN	N	305	ENSP00000323421:T305N	ENSP00000323421:T305N	T	-	2	0	SMC1A	53455869	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.734000	0.84928	2.053000	0.61076	0.600000	0.82982	ACC		0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53439144	G	T	53439144	3	4	225	1	0	0	0	0	1	0	0	0	14781	1261	44	5	2867	5	SMC1A	23	53439144	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	4777782	53439144	101831416	89	15757											
TAF1	6872	broad.mit.edu	37	chrX	70627913	70627913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacctacaaacactccgCgaaaacgtgcgtaaacgcct	14	6	8	13	5	0	0	0	0	0	0	1	2	1	1	3	1	5	1	3	1	6	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:70627913C>T	ENST00000373790.4	+	28	4344	c.4293C>T	c.(4291-4293)cgC>cgT	p.R1431R	TAF1_ENST00000449580.1_Silent_p.R1431R|TAF1_ENST00000276072.3_Silent_p.R1452R|TAF1_ENST00000423759.1_Silent_p.R1452R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1431	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAACACTCCGCGAAAACGTGC	0.443																																						uc004dzu.4																			0		p.R1431S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4291-4293)cgC>cgT		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							168	121	137					X																	70627913		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70627913C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4293C>T	X.37:g.70627913C>T						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.R1452R|TAF1_uc004dzv.4_Silent_p.R605R|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	p.R1431R	NM_138923	NP_620278	P21675	TAF1_HUMAN			27	4344	+	Renal(35;0.156)	all_lung(315;0.000321)	1431			Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.4293C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	5.800	0.331827	0.10956	.	.	ENSG00000147133	ENST00000463163;ENST00000437147	.	.	.	4.16	-0.0393	0.13876	.	.	.	.	.	T	0.42063	0.1186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	1.8995	0.03264	0.1517:0.0934:0.3024:0.4525	.	.	.	.	V	97;86	.	.	A	+	2	0	TAF1	70544638	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	1.542000	0.36137	0.016000	0.14998	-0.965000	0.02619	GCG		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70627913	C	T	70627913	2	4	225	1	0	0	0	0	0	0	0	1	15510	755	27	1		1	TAF1	23	70627913	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	17188769	70627913	84642647	90	15758											
PGK1	5230	broad.mit.edu	37	chrX	77378404	77378404	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatgattattggtggTggaatggcttttaccttcct	9	16	11	5	0	0	2	0	2	0	1	1	4	1	3	2	4	1	1	2	4	4	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:77378404T>A	ENST00000373316.4	+	7	881	c.714T>A	c.(712-714)ggT>ggA	p.G238G	PGK1_ENST00000442431.1_Silent_p.G102G|PGK1_ENST00000537456.1_Silent_p.G210G	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	238					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TTATTGGTGGTGGAATGGCTT	0.398																																						uc004ecz.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(712-714)ggT>ggA		Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.							160	128	139					X																	77378404		2203	4300	6503	SO:0001819	synonymous_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77378404T>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.714T>A	X.37:g.77378404T>A						PGK1_uc011mqq.2_Silent_p.G210G	p.G238G	NM_000291	NP_000282	P00558	PGK1_HUMAN			6	886	+			238					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	ENST00000373316.4	37	c.714T>A	CCDS14438.1																																																																																				0.398	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			A	77378404	T	A	77378404	2	1	225	1	0	0	0	0	0	0	0	1	11790	1683	59	5		5	PGK1	23	77378404	Silent	SNP	T	TCGA-32-1982-01A-01D-1494-08	6750491	77378404	77892156	91	15759											
RPA4	29935	broad.mit.edu	37	chrX	96139791	96139791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgcatattctggaaaCggtcaatgcacacatgatgc	12	9	9	11	2	2	1	1	1	1	0	2	2	2	2	1	2	4	2	1	2	3	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:96139791C>T	ENST00000373040.3	+	1	885	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	161					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATTCTGGAAACGGTCAATGCA	0.458								Other identified genes with known or suspected DNA repair function																														uc004efv.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(481-483)aCg>aTg	Other identified genes with known or suspected DNA repair function	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.							136	110	119					X																	96139791		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139791C>T	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.482C>T	X.37:g.96139791C>T	ENSP00000362131:p.Thr161Met					DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	p.T161M	NM_013347	NP_037479	Q13156	RFA4_HUMAN			0	885	+			161					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.482C>T	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224341	0.39300	.	.	ENSG00000204086	ENST00000373040	T	0.44083	0.93	3.81	-3.86	0.04230	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.28267	0.0698	L	0.38175	1.15	0.09310	N	1	B	0.31209	0.313	B	0.16722	0.016	T	0.05903	-1.0857	9	0.72032	D	0.01	-10.4585	11.4156	0.49949	0.0:0.1957:0.0:0.8043	.	161	Q13156	RFA4_HUMAN	M	161	ENSP00000362131:T161M	ENSP00000362131:T161M	T	+	2	0	RPA4	96026447	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-1.187000	0.03067	-1.225000	0.02578	0.600000	0.82982	ACG		0.458	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		T	96139791	C	T	96139791	3	4	225	1	0	0	0	0	1	0	0	0	13539	536	19	1	484	1	RPA4	23	96139791	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	18761387	96139791	59130769	92	15760											
PCDH19	57526	broad.mit.edu	37	chrX	99662858	99662858	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgagttttctggcacGctcaccgcgtaggtggactc	6	9	15	11	4	2	0	1	0	1	0	3	3	2	2	1	5	0	4	1	5	1	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:99662858G>A	ENST00000373034.4	-	1	2413	c.738C>T	c.(736-738)agC>agT	p.S246S	PCDH19_ENST00000255531.7_Silent_p.S246S|PCDH19_ENST00000420881.2_Silent_p.S246S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	246	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTCTGGCACGCTCACCGCGT	0.617																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(736-738)agC>agT		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.							135	138	137					X																	99662858		2181	4268	6449	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662858G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.738C>T	X.37:g.99662858G>A						PCDH19_uc004efw.4_Silent_p.S246S|PCDH19_uc004efx.4_Silent_p.S246S	p.S246S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	2414	-			246			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.738C>T	CCDS55462.1																																																																																				0.617	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99662858	G	A	99662858	2	1	225	1	0	0	0	0	0	0	0	1	11514	1078	38	1		1	PCDH19	23	99662858	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3523067	99662858	55607702	93	15761											
MID2	11043	broad.mit.edu	37	chrX	107084402	107084402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgttgcctgcgggccacGcaccccaacaagaaaccttt	10	6	9	16	3	0	1	0	0	0	1	0	2	0	1	6	1	4	2	6	1	3	2	rs376601333		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:107084402G>A	ENST00000262843.6	+	2	1055	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_ENST00000443968.2_Silent_p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(505-507)acG>acA		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							57	49	52					X																	107084402		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084402G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.507G>A	X.37:g.107084402G>A						MID2_uc004enk.3_Silent_p.T169T	p.T169T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			1	1080	+			169					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.507G>A	CCDS14532.2																																																																																				0.552	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		A	107084402	G	A	107084402	2	1	225	1	0	0	0	0	0	0	0	1	9578	1074	38	1		1	MID2	23	107084402	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	7421544	107084402	48186158	94	15762											
MAGEA6	4105	broad.mit.edu	37	chrX	151869622	151869622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgacctggagtctgaGttccaagcagcactcagtag	9	10	10	12	0	2	2	1	2	1	0	4	3	4	3	3	1	2	4	3	1	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:151869622G>T	ENST00000329342.5	+	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	104										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTCTGAGTTCCAAGCAG	0.547																																						uc022chf.1																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(310-312)gaG>gaT		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.							137	122	127					X																	151869622		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869622G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.312G>T	X.37:g.151869622G>T	ENSP00000329199:p.Glu104Asp					MAGEA6_uc004ffq.1_Missense_Mutation_p.E104D|MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D	p.E104D	NM_175868	NP_787064	P43360	MAGA6_HUMAN			0	312	+	Acute lymphoblastic leukemia(192;6.56e-05)		104					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.312G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.665627	0.00105	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.02177	4.7;4.41;4.48	0.605	-1.21	0.09524	.	3.014390	0.00991	N	0.003531	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	9	0.42905	T	0.14	.	.	.	.	.	104	P43360	MAGA6_HUMAN	D	104	ENSP00000329199:E104D;ENSP00000403303:E104D;ENSP00000401806:E104D	ENSP00000329199:E104D	E	+	3	2	MAGEA6	151620278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.951000	0.00327	-2.372000	0.00601	-1.143000	0.01870	GAG		0.547	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		T	151869622	G	T	151869622	3	4	225	1	0	0	0	0	1	0	0	0	9170	1020	36	5	314	5	MAGEA6	23	151869622	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	44785220	151869622	3400938	95	15763											
DKC1	1736	broad.mit.edu	37	chrX	154004585	154004585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtctggagagcggggccGagcctggagatggggtgtgt	5	8	21	7	2	1	2	0	0	1	2	1	5	1	2	2	7	2	0	2	7	0	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:154004585G>A	ENST00000369550.5	+	14	1672	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	488	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGCGGGGCCGAGCCTGGAGA	0.532									Congenital Dyskeratosis																													uc004fmm.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1462-1464)Gag>Aag		Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.							53	45	47					X																	154004585		2201	4296	6497	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154004585G>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1462G>A	X.37:g.154004585G>A	ENSP00000358563:p.Glu488Lys					DKC1_uc010nvf.3_Missense_Mutation_p.E483K	p.E488K	NM_001363	NP_001354	O60832	DKC1_HUMAN			13	1672	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		488			Nuclear and nucleolar localization.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1462G>A	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024702	0.35701	.	.	ENSG00000130826	ENST00000369550	D	0.97430	-4.38	4.76	3.89	0.44902	.	11.960700	0.00397	N	0.000044	D	0.93792	0.8015	N	0.19112	0.55	0.19775	N	0.999954	B;B	0.24533	0.105;0.105	B;B	0.12156	0.005;0.007	D	0.85111	0.0963	10	0.38643	T	0.18	-24.7084	9.9674	0.41732	0.1019:0.0:0.8981:0.0	.	488;488	A8MUT5;O60832	.;DKC1_HUMAN	K	488	ENSP00000358563:E488K	ENSP00000358563:E488K	E	+	1	0	DKC1	153657779	0.626000	0.27120	0.021000	0.16686	0.024000	0.10985	2.584000	0.46102	1.082000	0.41137	0.600000	0.82982	GAG		0.532	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		A	154004585	G	A	154004585	3	1	225	1	0	0	0	0	1	0	0	0	4542	1059	37	2	1516	2	DKC1	23	154004585	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	2134963	154004585	1265975	96	15764											
KIAA0562	9731	broad.mit.edu	37	chr1	3746424	3746424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattgttttgtagagaatGttcctgcgtgtgttgctgtc	8	17	11	5	1	0	1	0	0	0	1	2	2	1	1	1	0	2	5	1	0	4	6			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:3746424G>A	ENST00000378230.3	-	14	2298	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	658						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGTAGAGAATGTTCCTGCGTG	0.463																																						uc001aky.2																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1972-1974)aaC>aaT		Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.							184	176	179					1																	3746424		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3746424G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1974C>T	1.37:g.3746424G>A						CEP104_uc010nzm.1_Non-coding_Transcript	p.N658N	NM_014704	NP_055519	O60308	CE104_HUMAN			13	2333	-			658					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.1974C>T	CCDS30571.1																																																																																				0.463	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		A	3746424	G	A	3746424	2	1	226	1	0	0	0	0	0	0	0	1	8184	1368	48	3		3	KIAA0562	1	3746424	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08		3746424	245504197	1	15765											
RPA2	6118	broad.mit.edu	37	chr1	28223599	28223599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcattcatatcctccagggGcatgatcttaaaggctacca	11	11	7	12	0	3	1	2	1	1	0	5	1	5	1	3	3	1	2	3	3	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:28223599G>A	ENST00000373912.3	-	6	741	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	RPA2_ENST00000373909.3_Missense_Mutation_p.P156S|RPA2_ENST00000313433.7_Missense_Mutation_p.P236S	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	148					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCAGGGGCATGATCTTA	0.383								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001bpe.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(442-444)Ccc>Tcc	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.							144	130	134					1																	28223599		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28223599G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.442C>T	1.37:g.28223599G>A	ENSP00000363021:p.Pro148Ser					RPA2_uc010ofp.1_Missense_Mutation_p.P52S	p.P148S	NM_002946	NP_002937	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	5	724	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	148					Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.442C>T	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677786	0.88445	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.32	5.32	0.75619	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.103870	0.64402	D	0.000002	T	0.53302	0.1788	M	0.87328	2.875	0.47862	D	0.999535	D;D	0.59767	0.986;0.985	D;P	0.72982	0.979;0.901	T	0.58719	-0.7587	10	0.56958	D	0.05	-8.2616	18.1399	0.89636	0.0:0.0:1.0:0.0	.	148;156	P15927;P15927-2	RFA2_HUMAN;.	S	148;156;236;152	ENSP00000363021:P148S;ENSP00000363017:P156S;ENSP00000363015:P236S;ENSP00000387649:P152S	ENSP00000363015:P236S	P	-	1	0	RPA2	28096186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.010000	0.64004	2.655000	0.90218	0.555000	0.69702	CCC		0.383	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		A	28223599	G	A	28223599	3	1	226	1	0	0	0	0	1	0	0	0	13537	1203	42	3	386	3	RPA2	1	28223599	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	24477175	28223599	221027022	2	15766											
C8B	732	broad.mit.edu	37	chr1	57417728	57417728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctcttacctgtggcGtgtagctttccacattgtag	5	15	11	10	1	1	0	0	0	1	0	3	0	2	0	2	2	2	4	2	2	3	5	rs374321085		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:57417728G>A	ENST00000371237.4	-	5	725	c.659C>T	c.(658-660)aCg>aTg	p.T220M	C8B_ENST00000535057.1_Missense_Mutation_p.T158M|C8B_ENST00000543257.1_Missense_Mutation_p.T168M	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	220	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTGTGGCGTGTAGCTTTC	0.562																																						uc001cyp.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(658-660)aCg>aTg		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.		G	MET/THR	0,4406		0,0,2203	145	135	138		659	0.1	0.8	1		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	C8B	NM_000066.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	220/592	57417728	1,13005	2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57417728G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.659C>T	1.37:g.57417728G>A	ENSP00000360281:p.Thr220Met					C8B_uc010oon.2_Missense_Mutation_p.T158M|C8B_uc010ooo.2_Missense_Mutation_p.T168M	p.T220M	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	726	-			220			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.659C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	9.152	1.016479	0.19355	0.0	1.16E-4	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29917	1.8;1.55;1.55	5.56	0.0826	0.14429	Membrane attack complex component/perforin (MACPF) domain (1);	0.482456	0.25143	N	0.032810	T	0.21103	0.0508	M	0.70275	2.135	0.23568	N	0.997394	P;P;B	0.35982	0.531;0.531;0.287	B;B;B	0.24701	0.055;0.055;0.025	T	0.16394	-1.0404	10	0.48119	T	0.1	-3.9507	1.7872	0.03044	0.2755:0.2274:0.3808:0.1163	.	168;158;220	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	M	220;168;158	ENSP00000360281:T220M;ENSP00000442548:T168M;ENSP00000440113:T158M	ENSP00000360281:T220M	T	-	2	0	C8B	57190316	0.001000	0.12720	0.802000	0.32245	0.002000	0.02628	0.177000	0.16801	0.377000	0.24735	-0.186000	0.12905	ACG		0.562	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57417728	G	A	57417728	3	1	226	1	0	0	0	0	1	0	0	0	2417	1145	40	1	1148	1	C8B	1	57417728	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	29194129	57417728	191832893	3	15767											
SGIP1	84251	broad.mit.edu	37	chr1	67206953	67206953	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaataatgtgtttttttttAggggtgggttctttgttggc	5	21	13	2	0	1	0	0	0	1	0	1	0	1	0	0	4	0	4	0	4	3	10			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:67206953A>T	ENST00000371037.4	+	24	2376		c.e24-1		SGIP1_ENST00000237247.6_Splice_Site|SGIP1_ENST00000435165.2_Splice_Site|SGIP1_ENST00000371039.1_Splice_Site|SGIP1_ENST00000371035.3_Splice_Site|SGIP1_ENST00000371036.3_Splice_Site	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTTTTTTTAGGGGTGGGTT	0.373																																						uc001dcr.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.e24-2		Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.							77	72	74					1																	67206953		2203	4300	6503	SO:0001630	splice_region_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67206953A>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2300-1A>T	1.37:g.67206953A>T						SGIP1_uc010opd.2_Splice_Site_p.G367_splice|SGIP1_uc001dcs.3_Splice_Site_p.G367_splice|SGIP1_uc001dct.3_Splice_Site_p.G369_splice|SGIP1_uc009wat.3_Splice_Site_p.G561_splice|SGIP1_uc001dcu.3_Splice_Site_p.G272_splice	p.G767_splice	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			24	2517	+			767					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Splice_Site	SNP	ENST00000371037.4	37	c.2300_splice	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248369	0.80024	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGIP1	66979541	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	8.822000	0.92013	2.184000	0.69523	0.533000	0.62120	.		0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	Intron	T	67206953	A	T	67206953	5	4	226	1	0	0	0	0	0	0	1	0	14206	434	15	5	2392	5	SGIP1	1	67206953	Splice_Site	SNP	A	TCGA-32-1986-01A-01D-1494-08	9789225	67206953	182043668	4	15768											
TDRD10	126668	broad.mit.edu	37	chr1	154479756	154479756	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactctctgataaactGtttgggaagaatggagtgtt	11	12	10	8	0	1	2	0	1	1	1	2	4	1	4	2	2	2	2	2	2	5	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:154479756G>C	ENST00000368480.3	+	3	127	c.42G>C	c.(40-42)ctG>ctC	p.L14L	TDRD10_ENST00000368482.4_Silent_p.L14L			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	14							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGATAAACTGTTTGGGAAGA	0.502																																						uc009wow.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(40-42)ctG>ctC		Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.							84	82	82					1																	154479756		1960	4139	6099	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154479756G>C	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.42G>C	1.37:g.154479756G>C						TDRD10_uc001ffd.3_Silent_p.L14L	p.L14L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	880	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		14					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.42G>C	CCDS41406.1																																																																																				0.502	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		C	154479756	G	C	154479756	2	2	226	1	0	0	0	0	0	0	0	1	15728	1364	48	5		5	TDRD10	1	154479756	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	87272803	154479756	94770865	5	15769											
SLAMF7	57823	broad.mit.edu	37	chr1	160718192	160718192	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttcccagatggaggctaCtccctgaagctcagcaaact	11	8	9	13	0	1	2	1	1	0	1	3	4	3	3	2	2	4	3	2	2	3	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:160718192C>A	ENST00000368043.3	+	2	301	c.264C>A	c.(262-264)taC>taA	p.Y88*	SLAMF7_ENST00000359331.4_Nonsense_Mutation_p.Y88*|SLAMF7_ENST00000441662.2_Nonsense_Mutation_p.Y88*|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Nonsense_Mutation_p.Y88*|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	88	Ig-like V-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGGAGGCTACTCCCTGAAGC	0.507																																						uc001fwq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.(262-264)taC>taA		Homo sapiens SLAM family member 7 (SLAMF7), mRNA.							86	79	82					1																	160718192		2203	4300	6503	SO:0001587	stop_gained	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160718192C>A	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.264C>A	1.37:g.160718192C>A	ENSP00000357022:p.Tyr88*					SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjo.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjr.2_Intron	p.Y88*	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	279	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		88					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Nonsense_Mutation	SNP	ENST00000368043.3	37	c.264C>A	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581048	0.28180	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	.	.	.	4.59	0.614	0.17603	.	1.706890	0.02826	N	0.126190	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.3313	8.6832	0.34221	0.0:0.64:0.0:0.36	.	.	.	.	X	88	.	.	Y	+	3	2	SLAMF7	158984816	0.042000	0.20092	0.229000	0.23960	0.121000	0.20230	-0.223000	0.09177	0.025000	0.15241	-1.151000	0.01829	TAC		0.507	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		A	160718192	C	A	160718192	4	1	226	1	0	0	0	0	0	1	0	0	14369	576	20	5	270	5	SLAMF7	1	160718192	Nonsense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	6238436	160718192	88532429	6	15770											
USH2A	7399	broad.mit.edu	37	chr1	216052106	216052106	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcaccttctcttacCtcaaattaggtccatttggc	9	15	5	12	0	4	0	3	0	1	0	6	0	5	0	3	2	1	0	3	2	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:216052106C>A	ENST00000307340.3	-	42	8944	c.8558G>T	c.(8557-8559)aGa>aTa	p.R2853I	USH2A_ENST00000366943.2_Splice_Site_p.R2853I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2853	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTCTCTTACCTCAAATTAGG	0.393										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.e42+1		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							87	89	88					1																	216052106		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052106C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8558+1G>T	1.37:g.216052106C>A		HNSCC(13;0.011)					p.R2853_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8945	-			2853			Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8558_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753564	0.89753	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000149	T	0.74351	0.3705	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72334	-0.4325	9	.	.	.	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	2853	O75445	USH2A_HUMAN	I	2853	ENSP00000305941:R2853I;ENSP00000355910:R2853I	.	R	-	2	0	USH2A	214118729	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.294000	0.78760	2.788000	0.95919	0.650000	0.86243	AGA		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Missense_Mutation	A	216052106	C	A	216052106	5	1	226	1	0	0	0	0	0	0	1	0	17033	695	24	5	7174	5	USH2A	1	216052106	Splice_Site	SNP	C	TCGA-32-1986-01A-01D-1494-08	55333914	216052106	33198515	7	15771											
OBSCN	84033	broad.mit.edu	37	chr1	228444458	228444458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcaggcccagacggaGgtgatgtggtacaaggacgg	9	6	18	8	2	1	2	1	1	0	1	1	4	1	4	1	7	1	2	1	7	2	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:228444458G>A	ENST00000422127.1	+	15	4460	c.4416G>A	c.(4414-4416)gaG>gaA	p.E1472E	OBSCN_ENST00000359599.6_Silent_p.E36E|OBSCN_ENST00000570156.2_Silent_p.E1564E|OBSCN_ENST00000366707.4_De_novo_Start_InFrame|OBSCN_ENST00000366709.4_De_novo_Start_InFrame|OBSCN_ENST00000284548.11_Silent_p.E1472E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1472	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCAGACGGAGGTGATGTGGT	0.657																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4414-4416)gaG>gaA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							58	60	59					1																	228444458		2102	4206	6308	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444458G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4416G>A	1.37:g.228444458G>A						OBSCN_uc001hsn.3_Silent_p.E1472E	p.E1472E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			14	4460	+		Prostate(94;0.0405)	1472			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4416G>A	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228444458	G	A	228444458	2	1	226	1	0	0	0	0	0	0	0	1	10812	991	35	3		3	OBSCN	1	228444458	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	12392352	228444458	20806163	8	15772											
MARCO	8685	broad.mit.edu	37	chr2	119732140	119732140	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagtcaagggagaggcGggtgagtaggtgctgggtat	8	7	21	5	2	1	2	1	1	0	1	1	4	1	3	1	6	1	3	1	6	3	2	rs374483780		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:119732140G>A	ENST00000327097.4	+	6	747	c.612G>A	c.(610-612)gcG>gcA	p.A204A	MARCO_ENST00000541757.1_Splice_Site_p.A126A	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	204	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGGAGAGGCGGGTGAGTAGG	0.572																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.e6+1		Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	61	64	63		612	-5.4	0.8	2		63	0,8600		0,0,4300	no	coding-synonymous-near-splice	MARCO	NM_006770.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		204/521	119732140	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119732140G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.613+1G>A	2.37:g.119732140G>A						MARCO_uc010yyf.1_Splice_Site_p.G127_splice	p.G205_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			6	745	+			205			Collagen-like.		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.613_splice	CCDS2124.1																																																																																				0.572	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Silent	A	119732140	G	A	119732140	5	1	226	1	0	0	0	0	0	0	1	0	9311	1130	39	2	634	2	MARCO	2	119732140	Splice_Site	SNP	G	TCGA-32-1986-01A-01D-1494-08		119732140	123467233	9	15773											
C2orf80	389073	broad.mit.edu	37	chr2	209036767	209036767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaacatggcaaaggggtgCaaggagaggcagagagatga	15	5	17	4	0	0	4	0	1	0	3	0	6	0	4	0	5	2	4	0	5	3	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:209036767C>T	ENST00000341287.4	-	7	594	c.399G>A	c.(397-399)ttG>ttA	p.L133L	C2orf80_ENST00000451346.1_Silent_p.L114L|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	133										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAAAGGGGTGCAAGGAGAGGC	0.478																																						uc002vcr.3																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(397-399)ttG>ttA		Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.							218	223	221					2																	209036767		1940	4153	6093	SO:0001819	synonymous_variant	389073							g.chr2:209036767C>T	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.399G>A	2.37:g.209036767C>T							p.L133L	NM_001099334	NP_001092804	Q0P641	CB080_HUMAN			6	571	-			133					A6NKZ3	Silent	SNP	ENST00000341287.4	37	c.399G>A	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	2.548	-0.304662	0.05495	.	.	ENSG00000188674	ENST00000428015	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	T	0.71298	0.3323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69254	-0.5193	4	.	.	.	-2.4356	15.5974	0.76595	0.0:1.0:0.0:0.0	.	.	.	.	T	85	.	.	A	-	1	0	C2orf80	208745012	0.997000	0.39634	1.000000	0.80357	0.201000	0.24016	2.076000	0.41548	2.737000	0.93849	0.557000	0.71058	GCA		0.478	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		T	209036767	C	T	209036767	2	4	226	1	0	0	0	0	0	0	0	1	2197	709	25	3		3	C2orf80	2	209036767	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	89304627	209036767	34162606	10	15774											
RNF168	165918	broad.mit.edu	37	chr3	196214417	196214417	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcactggctttgttttcTtcttcctcgctggcccgtcg	1	18	8	14	3	4	0	1	0	3	0	7	0	5	0	2	2	0	3	2	2	0	6			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr3:196214417T>G	ENST00000318037.3	-	3	1005	c.411A>C	c.(409-411)gaA>gaC	p.E137D		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	137	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTTTGTTTTCTTCTTCCTCGC	0.433																																						uc003fwq.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(409-411)gaA>gaC		Homo sapiens ring finger protein 168 (RNF168), mRNA.							191	177	182					3																	196214417		2202	4299	6501	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214417T>G	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.411A>C	3.37:g.196214417T>G	ENSP00000320898:p.Glu137Asp					RNF168_uc010iah.3_5'UTR	p.E137D	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	2	1006	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		137			Glu-rich.		Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.411A>C	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990999	0.74703	.	.	ENSG00000163961	ENST00000318037	T	0.09911	2.93	5.41	3.03	0.35002	.	0.000000	0.64402	D	0.000020	T	0.27349	0.0671	M	0.77616	2.38	0.29370	N	0.864034	D	0.76494	0.999	D	0.68192	0.956	T	0.07731	-1.0757	10	0.56958	D	0.05	-13.8403	6.6908	0.23169	0.1365:0.0753:0.0:0.7882	.	137	Q8IYW5	RN168_HUMAN	D	137	ENSP00000320898:E137D	ENSP00000320898:E137D	E	-	3	2	RNF168	197698814	0.992000	0.36948	0.995000	0.50966	0.856000	0.48823	-0.012000	0.12699	0.500000	0.27991	0.533000	0.62120	GAA		0.433	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		G	196214417	T	G	196214417	3	3	226	1	0	0	0	0	1	0	0	0	13459	1606	56	5	1320	5	RNF168	3	196214417	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08		196214417	1808013	11	15775											
PPEF2	5470	broad.mit.edu	37	chr4	76811138	76811138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgaatgcttctaccaggGcagttgcatggtcaggcagg	8	10	14	9	0	3	1	1	1	2	0	3	1	3	1	1	4	3	5	1	4	2	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:76811138G>A	ENST00000286719.7	-	5	745	c.389C>T	c.(388-390)gCc>gTc	p.A130V	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	130	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTACCAGGGCAGTTGCATG	0.522																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(388-390)gCc>gTc		Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.							219	194	203					4																	76811138		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811138G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.389C>T	4.37:g.76811138G>A	ENSP00000286719:p.Ala130Val					PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.A130V	p.A130V	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	746	-			130			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.389C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429163	0.83776	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.46063	0.88	4.8	4.8	0.61643	Serine/threonine phosphatase, PPP5 (1);	0.269740	0.37809	N	0.001922	T	0.63604	0.2525	M	0.75447	2.3	0.52501	D	0.999958	D;D	0.89917	0.991;1.0	P;D	0.91635	0.894;0.999	T	0.63386	-0.6649	10	0.35671	T	0.21	-3.4223	15.3613	0.74478	0.0:0.0:1.0:0.0	.	130;130	O14830-2;O14830	.;PPE2_HUMAN	V	130	ENSP00000286719:A130V	ENSP00000286719:A130V	A	-	2	0	PPEF2	77030162	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.542000	0.60677	2.227000	0.72691	0.313000	0.20887	GCC		0.522	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		A	76811138	G	A	76811138	3	1	226	1	0	0	0	0	1	0	0	0	12308	1203	42	3	1924	3	PPEF2	4	76811138	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		76811138	114343138	12	15776											
FHDC1	85462	broad.mit.edu	37	chr4	153897134	153897134	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggaccctgaccgcctcAgagaacgagagcatgcgcaa	11	4	13	13	4	1	3	1	1	0	2	1	6	1	4	3	1	4	2	3	1	2	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:153897134A>G	ENST00000511601.1	+	12	2879	c.2691A>G	c.(2689-2691)tcA>tcG	p.S897S	FHDC1_ENST00000260008.3_Silent_p.S897S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	897									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGACCGCCTCAGAGAACGAGA	0.692																																						uc003inf.2																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2689-2691)tcA>tcG		Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.							30	34	33					4																	153897134		2202	4299	6501	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153897134A>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2691A>G	4.37:g.153897134A>G							p.S897S	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			10	2766	+	all_hematologic(180;0.093)		897						Silent	SNP	ENST00000511601.1	37	c.2691A>G	CCDS34081.1																																																																																				0.692	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153897134	A	G	153897134	2	3	226	1	0	0	0	0	0	0	0	1	5876	175	7	4		4	FHDC1	4	153897134	Silent	SNP	A	TCGA-32-1986-01A-01D-1494-08	77085996	153897134	37257142	13	15777											
FSTL5	56884	broad.mit.edu	37	chr4	162680612	162680614	+	In_Frame_Del	DEL	ATC	ATC	-																															aggtgcttgtcagcattaaaAtcatcatatttcaatagaac																										TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:162680612_162680614delATC	ENST00000306100.5	-	6	1112_1114	c.676_678delGAT	c.(676-678)gatdel	p.D226del	FSTL5_ENST00000427802.2_In_Frame_Del_p.D225del|FSTL5_ENST00000536695.1_In_Frame_Del_p.D225del|FSTL5_ENST00000379164.4_In_Frame_Del_p.D225del	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	226	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGCATTAAAATCATCATATTTC	0.34																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(676-678)gatdel		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	56884					extracellular region	calcium ion binding	g.chr4:162680612_162680614delATC	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.676_678delGAT	4.37:g.162680615_162680617delATC	ENSP00000305334:p.Asp226del					FSTL5_uc003iqi.3_In_Frame_Del_p.D225del|FSTL5_uc010iqv.3_In_Frame_Del_p.D225del	p.D226del	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	1112_1114	-	all_hematologic(180;0.24)		226			EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	In_Frame_Del	DEL	ENST00000306100.5	37	c.676_678delGAT	CCDS3802.1																																																																																				0.34	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		-	162680614	ATC	-	162680612	7	5	226	1	0	1	0	1	0	0	0	0	6080	98	4	0	1909	0	FSTL5	4	162680612	In_Frame_Del	DEL	ATC	TCGA-32-1986-01A-01D-1494-08	8783478	162680612	28473664	14	15778											
ADCY2	108	broad.mit.edu	37	chr5	7706894	7706894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagttgatatcaacatgCgcgtgggcgtgcattctggg	7	11	15	8	3	2	1	1	1	1	0	2	2	2	2	0	3	3	2	0	3	2	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:7706894C>T	ENST00000338316.4	+	8	1236	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	ADCY2_ENST00000537121.1_Missense_Mutation_p.R203C|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCAACATGCGCGTGGGCGT	0.473																																						uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1147-1149)Cgc>Tgc		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.							274	241	252					5																	7706894		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706894C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1147C>T	5.37:g.7706894C>T	ENSP00000342952:p.Arg383Cys					ADCY2_uc011cmo.1_Missense_Mutation_p.R203C	p.R383C	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			7	1214	+			383					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1147C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862584	0.91511	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.88277	-2.36;-2.36	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	18.964	0.92687	0.0:1.0:0.0:0.0	.	203;383	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	383;234;203	ENSP00000342952:R383C;ENSP00000444803:R203C	ENSP00000342952:R383C	R	+	1	0	ADCY2	7759894	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.771000	0.68881	2.480000	0.83734	0.655000	0.94253	CGC		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7706894	C	T	7706894	3	4	226	1	0	0	0	0	1	0	0	0	294	768	27	1	1177	1	ADCY2	5	7706894	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		7706894	173208366	15	15779											
C6	729	broad.mit.edu	37	chr5	41149449	41149449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctaactggcggccGtcttggcaggaaccaatatg	9	9	10	13	2	2	0	0	0	2	0	2	1	2	1	4	4	2	1	4	4	4	4	rs567176554	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:41149449G>A	ENST00000263413.3	-	17	2781	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_ENST00000337836.5_Silent_p.D839D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	839	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													G|||	4	0.000798722	0.0023	0	5008	,	,		17945	0		0.001	False		,,,				2504	0					uc003jmk.2																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2515-2517)gaC>gaT		Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.							137	135	135					5																	41149449		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149449G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2517C>T	5.37:g.41149449G>A						C6_uc003jml.1_Silent_p.D839D	p.D839D	NM_000065	NP_001108603	P13671	CO6_HUMAN			16	2727	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	839			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Silent	SNP	ENST00000263413.3	37	c.2517C>T	CCDS3936.1																																																																																				0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			A	41149449	G	A	41149449	2	1	226	1	0	0	0	0	0	0	0	1	2315	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	33442555	41149449	139765811	16	15780											
CSF2	1437	broad.mit.edu	37	chr5	131409540	131409540	+	Frame_Shift_Del	DEL	C	C	-																															tggctgcagagcctgctgctCttgggcactgtggcctgcag																										TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:131409540delC	ENST00000296871.2	+	1	58	c.24delC	c.(22-24)ctcfs	p.L9fs		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	9					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCTGCTGCTCTTGGGCACTG	0.597																																						uc003kwf.3																			0				skin(1)	1						c.(22-24)ctcfs		Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	Sargramostim(DB00020)						30	35	33					5																	131409540		2202	4297	6499	SO:0001589	frameshift_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409540delC	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"sargramostim", "molgramostin", "granulocyte-macrophage colony stimulating factor"	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.24delC	5.37:g.131409540delC	ENSP00000296871:p.Leu9fs						p.L8fs	NM_000758	NP_000749	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		0	56	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	8					Q14CE8|Q2VPI8|Q8NFI6	Frame_Shift_Del	DEL	ENST00000296871.2	37	c.24delC	CCDS4150.1																																																																																				0.597	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		-	131409540	C	-	131409540	7	5	226	1	0	1	0	1	0	0	0	0	3933	900	32	0	26	0	CSF2	5	131409540	Frame_Shift_Del	DEL	C	TCGA-32-1986-01A-01D-1494-08	90260091	131409540	49505720	17	15781											
PCDHB7	56129	broad.mit.edu	37	chr5	140553608	140553608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcctgaagccatctgtcGaaaacttctatactctggta	11	13	6	11	1	4	1	1	1	3	0	6	2	5	1	2	1	3	1	2	1	6	4	rs267600426		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:140553608G>A	ENST00000231137.3	+	1	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E398K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493																																						uc003lit.3																			1	Substitution - Missense(1)	p.E398K(2)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1192-1194)Gaa>Aaa		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							77	78	78					5																	140553608		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553608G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1192G>A	5.37:g.140553608G>A	ENSP00000231137:p.Glu398Lys						p.E398K	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1366	+			398			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1192G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338376	0.01287	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.50813	0.73	4.61	1.55	0.23275	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22589	0.0545	N	0.11313	0.125	0.09310	N	1	B	0.21147	0.052	B	0.24701	0.055	T	0.22556	-1.0213	9	0.17832	T	0.49	.	1.9689	0.03402	0.2013:0.268:0.3937:0.137	.	398	Q9Y5E2	PCDB7_HUMAN	K	398;181	ENSP00000231137:E398K	ENSP00000231137:E398K	E	+	1	0	PCDHB7	140533792	0.967000	0.33354	0.665000	0.29768	0.148000	0.21650	2.313000	0.43735	0.456000	0.26937	0.650000	0.86243	GAA		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553608	G	A	140553608	3	1	226	1	0	0	0	0	1	0	0	0	11547	1059	37	2	1194	2	PCDHB7	5	140553608	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	9144068	140553608	40361652	18	15782											
GEMIN5	25929	broad.mit.edu	37	chr5	154311130	154311130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcccgttggtaatttcAgcttcttctatgagataggt	8	16	9	8	1	3	1	1	1	2	1	4	2	4	1	1	2	1	4	1	2	3	8			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:154311130A>G	ENST00000285873.7	-	5	744	c.669T>C	c.(667-669)gcT>gcC	p.A223A		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	223					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTAATTTCAGCTTCTTCTA	0.358																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(667-669)gcT>gcC		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							128	114	119					5																	154311130		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154311130A>G	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.669T>C	5.37:g.154311130A>G						GEMIN5_uc011ddk.1_Silent_p.A222A	p.A223A	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	752	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	223					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.669T>C	CCDS4330.1																																																																																				0.358	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			G	154311130	A	G	154311130	2	3	226	1	0	0	0	0	0	0	0	1	6331	175	7	4		4	GEMIN5	5	154311130	Silent	SNP	A	TCGA-32-1986-01A-01D-1494-08	13757522	154311130	26604130	19	15783											
GABRG2	2566	broad.mit.edu	37	chr5	161524703	161524703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagacgtttgaaatttaaCagcaccattaaagtcctccg	14	10	7	10	2	0	2	0	1	0	1	2	3	2	2	3	0	2	2	3	0	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:161524703C>A	ENST00000361925.4	+	4	607	c.387C>A	c.(385-387)aaC>aaA	p.N129K	GABRG2_ENST00000393933.4_Missense_Mutation_p.N34K|GABRG2_ENST00000356592.3_Missense_Mutation_p.N129K|GABRG2_ENST00000414552.2_Missense_Mutation_p.N129K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	129					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAATTTAACAGCACCATTA	0.353																																						uc010jjc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(385-387)aaC>aaA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							94	95	95					5																	161524703		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524703C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.387C>A	5.37:g.161524703C>A	ENSP00000354651:p.Asn129Lys					GABRG2_uc003lyy.4_Missense_Mutation_p.N129K|GABRG2_uc003lyz.4_Missense_Mutation_p.N129K|GABRG2_uc011dej.2_Missense_Mutation_p.N34K	p.N129K	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	3	745	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	129					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.387C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550693	0.45383	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.81	3.12	0.35913	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.52126	1.63	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.986;0.994;0.991	T	0.77376	-0.2611	10	0.07482	T	0.82	.	9.0392	0.36307	0.0:0.7241:0.0:0.2759	.	129;129;129	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	129;129;129;34;34	ENSP00000349000:N129K;ENSP00000410732:N129K;ENSP00000354651:N129K;ENSP00000377510:N34K;ENSP00000430182:N34K	ENSP00000349000:N129K	N	+	3	2	GABRG2	161457281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.636000	0.46545	0.399000	0.25367	-0.260000	0.10688	AAC		0.353	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			A	161524703	C	A	161524703	3	1	226	1	0	0	0	0	1	0	0	0	6172	477	17	5	401	5	GABRG2	5	161524703	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	7213573	161524703	19390557	20	15784											
ODZ2	57451	broad.mit.edu	37	chr5	167626105	167626105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgggcagaatcccatcGtgcctgagacccaggtagga	9	6	12	14	1	0	2	0	1	0	2	2	4	1	3	5	3	1	2	5	3	2	1	rs140215976	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:167626105G>A	ENST00000518659.1	+	16	3187	c.3148G>A	c.(3148-3150)Gtg>Atg	p.V1050M	TENM2_ENST00000545108.1_Missense_Mutation_p.V1050M|TENM2_ENST00000403607.2_Missense_Mutation_p.V874M|TENM2_ENST00000520394.1_Missense_Mutation_p.V818M|TENM2_ENST00000519204.1_Missense_Mutation_p.V929M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1050					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAATCCCATCGTGCCTGAGAC	0.587													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		17793	0		0	False		,,,				2504	0					uc010jjd.3																			0		p.Q1040*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(3121-3123)Gtg>Atg		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.		G	MET/VAL	54,3902		0,54,1924	49	49	49		3121	5.8	1	5	dbSNP_134	49	1,8339		0,1,4169	yes	missense	ODZ2	NM_001122679.1	21	0,55,6093	AA,AG,GG		0.012,1.365,0.4473	probably-damaging	1041/2766	167626105	55,12241	1978	4170	6148	SO:0001583	missense	57451							g.chr5:167626105G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3148G>A	5.37:g.167626105G>A	ENSP00000429430:p.Val1050Met					ODZ2_uc003lzr.4_Missense_Mutation_p.V818M|ODZ2_uc003lzt.4_Missense_Mutation_p.V414M|ODZ2_uc010jje.3_Missense_Mutation_p.V312M	p.V1041M	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	15	3121	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3121G>A		11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	19.97	3.924509	0.73213	0.01365	1.2E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90504	-2.21;-2.19;-2.31;-2.66;-2.68	5.75	5.75	0.90469	.	0.169799	0.51477	D	0.000081	D	0.89181	0.6642	L	0.55481	1.735	0.46874	D	0.999231	D;D;D	0.61697	0.99;0.983;0.985	P;P;B	0.60068	0.868;0.741;0.33	D	0.90389	0.4394	10	0.66056	D	0.02	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	1050;1050;818	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1050;1050;929;818;874	ENSP00000429430:V1050M;ENSP00000438635:V1050M;ENSP00000428964:V929M;ENSP00000427874:V818M;ENSP00000384905:V874M	ENSP00000384905:V874M	V	+	1	0	ODZ2	167558683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	2.720000	0.93068	0.655000	0.94253	GTG		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167626105	G	A	167626105	3	1	226	1	0	0	0	0	1	0	0	0	10835	1145	40	1	3183	1	ODZ2	5	167626105	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	6101402	167626105	13289155	21	15785											
ADAMTS2	9509	broad.mit.edu	37	chr5	178556986	178556986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcagcgtctcccggcCgtcctcgtctctgtactccc	2	11	10	18	4	3	0	0	0	3	0	8	0	5	0	4	2	3	2	4	2	1	1	rs537171944		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:178556986C>T	ENST00000251582.7	-	16	2505	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	802	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCTCCCGGCCGTCCTCGTCT	0.602																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2404-2406)Ggc>Agc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							111	104	106					5																	178556986		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178556986C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2404G>A	5.37:g.178556986C>T	ENSP00000251582:p.Gly802Ser						p.G802S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	15	2506	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	802			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2404G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665010	0.29604	.	.	ENSG00000087116	ENST00000251582	T	0.49432	0.78	5.05	5.05	0.67936	ADAM-TS Spacer 1 (1);	0.503501	0.17701	N	0.164904	T	0.33556	0.0867	L	0.37850	1.14	0.80722	D	1	P	0.43662	0.814	B	0.34931	0.192	T	0.16482	-1.0401	10	0.46703	T	0.11	.	9.7276	0.40342	0.0:0.8391:0.0:0.1609	.	802	O95450	ATS2_HUMAN	S	802	ENSP00000251582:G802S	ENSP00000251582:G802S	G	-	1	0	ADAMTS2	178489592	0.167000	0.22975	0.889000	0.34880	0.602000	0.36980	3.941000	0.56607	2.519000	0.84933	0.456000	0.33151	GGC		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178556986	C	T	178556986	3	4	226	1	0	0	0	0	1	0	0	0	265	652	23	2	1259	2	ADAMTS2	5	178556986	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	10930881	178556986	2358274	22	15786											
PCLO	27445	broad.mit.edu	37	chr7	82764629	82764629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatcagcaacaggggccTtgtcctgctcagatgggaca	10	9	11	11	0	3	1	3	0	0	1	4	2	4	2	2	3	3	2	2	3	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:82764629T>C	ENST00000333891.9	-	3	2574	c.2237A>G	c.(2236-2238)aAg>aGg	p.K746R	PCLO_ENST00000423517.2_Missense_Mutation_p.K746R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACAGGGGCCTTGTCCTGCTC	0.512																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2236-2238)aAg>aGg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							129	119	122					7																	82764629		1929	4127	6056	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764629T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2237A>G	7.37:g.82764629T>C	ENSP00000334319:p.Lys746Arg					PCLO_uc003uhv.2_Missense_Mutation_p.K746R	p.K746R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	2526	-			692			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2237A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	2.868	-0.234654	0.05983	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18960	2.18;2.18	5.83	2.19	0.27852	.	.	.	.	.	T	0.15998	0.0385	L	0.36672	1.1	0.27741	N	0.944473	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.20174	-1.0283	9	0.87932	D	0	.	6.1044	0.20065	0.1211:0.1322:0.0:0.7467	.	746;746	Q9Y6V0-5;Q9Y6V0-6	.;.	R	692;746;746	ENSP00000334319:K746R;ENSP00000388393:K746R	ENSP00000334319:K746R	K	-	2	0	PCLO	82602565	0.829000	0.29322	0.333000	0.25482	0.239000	0.25481	1.232000	0.32636	0.452000	0.26830	-0.346000	0.07831	AAG		0.512	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82764629	T	C	82764629	3	2	226	1	0	0	0	0	1	0	0	0	11583	1609	56	4	13300	4	PCLO	7	82764629	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08		82764629	76374034	23	15787											
GRM3	2913	broad.mit.edu	37	chr7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcagtgataagtcgCgctatgattactttgccagg	11	11	9	10	2	1	2	1	2	0	0	2	2	1	2	2	1	3	1	2	1	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C|GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R183C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGATAAGTCGCGCTATGATTA	0.562																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			1	Substitution - Missense(1)	p.R183C(2)|p.S182L(1)	pancreas(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(547-549)Cgc>Tgc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						134	129	131					7																	86415655		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415655C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.547C>T	7.37:g.86415655C>T	ENSP00000355316:p.Arg183Cys					GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	p.R183C	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1646	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		183					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.547C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837511	0.91117	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.95413	0.8500	10	0.87932	D	0	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	55;183;183	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	183;55;55;183;181	ENSP00000355316:R183C;ENSP00000405427:R55C;ENSP00000441407:R55C;ENSP00000398767:R183C;ENSP00000378209:R181C	ENSP00000355316:R183C	R	+	1	0	GRM3	86253591	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.667000	0.61561	2.770000	0.95276	0.655000	0.94253	CGC		0.562	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86415655	C	T	86415655	3	4	226	1	0	0	0	0	1	0	0	0	6798	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	3651026	86415655	72723008	24	15788											
CALD1	800	broad.mit.edu	37	chr7	134552500	134552500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccatggatgattttgagCgtcgcagagaacttagaagg	13	9	12	7	2	0	4	0	2	0	2	1	6	0	5	1	2	2	1	1	2	3	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:134552500C>T	ENST00000361675.2	+	3	245	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	CALD1_ENST00000417172.1_Missense_Mutation_p.R6C|CALD1_ENST00000422748.1_Missense_Mutation_p.R6C|CALD1_ENST00000361388.2_Missense_Mutation_p.R6C|CALD1_ENST00000361901.2_Missense_Mutation_p.R6C			Q05682	CALD1_HUMAN	caldesmon 1	6					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGATTTTGAGCGTCGCAGAGA	0.433																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(16-18)Cgt>Tgt		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.							84	78	80					7																	134552500		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134552500C>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.16C>T	7.37:g.134552500C>T	ENSP00000354826:p.Arg6Cys					CALD1_uc003vry.3_Missense_Mutation_p.R6C|CALD1_uc003vsb.3_Missense_Mutation_p.R6C|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R6C	p.R6C	NM_033138	NP_149129	Q05682	CALD1_HUMAN			2	482	+			6					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.16C>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854965	0.51376	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928	T;T;T;T;T;T	0.63417	0.83;-0.04;0.9;0.92;0.3;0.83	5.6	5.6	0.85130	.	0.301725	0.23265	N	0.050090	T	0.70482	0.3229	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.994;0.994	T	0.73984	-0.3810	10	0.72032	D	0.01	-0.0794	19.2264	0.93819	0.0:1.0:0.0:0.0	.	6;6;6;6;6	A8K0X1;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;CALD1_HUMAN;.	C	6	ENSP00000398826:R6C;ENSP00000411476:R6C;ENSP00000355000:R6C;ENSP00000395710:R6C;ENSP00000354826:R6C;ENSP00000354513:R6C	ENSP00000355000:R6C	R	+	1	0	CALD1	134203040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.639000	0.67868	2.611000	0.88343	0.655000	0.94253	CGT		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		T	134552500	C	T	134552500	3	4	226	1	0	0	0	0	1	0	0	0	2581	768	27	1	18	1	CALD1	7	134552500	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	48136845	134552500	24586163	25	15789											
MGAM	8972	broad.mit.edu	37	chr7	141747587	141747587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatcttgttccccacagtcGaaagaaccctcttggtctta	10	12	7	12	1	3	1	0	0	3	1	5	3	4	1	3	1	1	1	3	1	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:141747587G>A	ENST00000549489.2	+	22	2596	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R834Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	834	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R834Q(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCACAGTCGAAAGAACCCT	0.413																																						uc003vwy.3																			6	Substitution - Missense(6)	p.R834Q(6)	lung(3)|endometrium(3)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2500-2502)cGa>cAa		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						75	66	69					7																	141747587		1902	4145	6047	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141747587G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2501G>A	7.37:g.141747587G>A	ENSP00000447378:p.Arg834Gln						p.R834Q	NM_004668	NP_004659	O43451	MGA_HUMAN			21	2555	+	Melanoma(164;0.0272)		834			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2501G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253343	0.97417	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91180	-2.8	5.37	5.37	0.77165	.	0.169950	0.28252	N	0.016029	D	0.96923	0.8995	H	0.95574	3.69	0.43673	D	0.996101	D	0.89917	1.0	D	0.97110	1.0	D	0.98008	1.0364	10	0.87932	D	0	.	17.8675	0.88800	0.0:0.0:1.0:0.0	.	834	O43451	MGA_HUMAN	Q	834;834;711	ENSP00000447378:R834Q	ENSP00000316431:R711Q	R	+	2	0	MGAM	141394056	1.000000	0.71417	0.404000	0.26397	0.887000	0.51463	8.365000	0.90108	2.528000	0.85240	0.650000	0.86243	CGA		0.413	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141747587	G	A	141747587	3	1	226	1	0	0	0	0	1	0	0	0	9541	1058	37	2	2583	2	MGAM	7	141747587	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	7195087	141747587	17391076	26	15790											
AGAP3	116988	broad.mit.edu	37	chr7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaggaacgctggataCgggccaagtatgaacagaag	16	4	15	6	2	0	3	0	1	0	2	0	6	0	5	1	4	3	2	1	4	7	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:150840450C>T	ENST00000463381.1	+	15	1799	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766W	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622																																						uc003wjg.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2296-2298)Cgg>Tgg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.							49	56	53					7																	150840450		2119	4246	6365	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840450C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1303C>T	7.37:g.150840450C>T	ENSP00000418016:p.Arg435Trp					AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	p.R766W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2299	+			730					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2296C>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816242	0.70912	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.50548	0.74;0.74	5.28	3.4	0.38934	.	0.068783	0.64402	D	0.000013	T	0.77478	0.4136	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.99;0.975	T	0.82878	-0.0239	10	0.87932	D	0	.	9.7714	0.40591	0.1385:0.788:0.0:0.0735	.	730;265;766;435	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	W	435;265;766;730	ENSP00000418016:R435W;ENSP00000380413:R766W	ENSP00000334157:R730W	R	+	1	2	AGAP3	150471383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.716000	0.54904	1.458000	0.47871	0.655000	0.94253	CGG		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		T	150840450	C	T	150840450	3	4	226	1	0	0	0	0	1	0	0	0	369	527	19	1	2429	1	AGAP3	7	150840450	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	9092863	150840450	8298213	27	15791											
CDCA2	157313	broad.mit.edu	37	chr8	25319665	25319665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgattcgtttcattgctCggcagcaaaatataaagaat	14	13	7	7	2	2	2	1	1	1	1	4	2	2	2	0	1	2	4	0	1	6	5	rs142497699	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr8:25319665C>T	ENST00000330560.3	+	4	805	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95W	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTCATTGCTCGGCAGCAAAA	0.423																																						uc003xep.1																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(328-330)Cgg>Tgg		Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.		C	TRP/ARG	10,4396	16.8+/-37.8	1,8,2194	97	98	98		328	4.5	1	8	dbSNP_134	98	0,8600		0,0,4300	yes	missense	CDCA2	NM_152562.2	101	1,8,6494	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	110/1024	25319665	10,12996	2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319665C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.328C>T	8.37:g.25319665C>T	ENSP00000328228:p.Arg110Trp					DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R110W|CDCA2_uc003xeq.1_Missense_Mutation_p.R95W	p.R110W	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	3	805	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	110					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.328C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216438	0.58452	0.00227	0.0	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34667	1.35;1.35	5.4	4.52	0.55395	.	0.389705	0.20703	N	0.087238	T	0.30293	0.0760	L	0.29908	0.895	0.33302	D	0.564981	D;P;P	0.56968	0.978;0.923;0.923	B;B;B	0.43916	0.319;0.436;0.436	T	0.48692	-0.9013	10	0.87932	D	0	-5.2524	12.1538	0.54064	0.0:0.8276:0.1724:0.0	.	110;95;110	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	W	110;95	ENSP00000328228:R110W;ENSP00000370040:R95W	ENSP00000328228:R110W	R	+	1	2	CDCA2	25375582	0.998000	0.40836	1.000000	0.80357	0.746000	0.42486	1.546000	0.36179	1.254000	0.44035	0.313000	0.20887	CGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25319665	C	T	25319665	3	4	226	1	0	0	0	0	1	0	0	0	3086	875	31	2	338	2	CDCA2	8	25319665	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		25319665	121044357	28	15792											
CUBN	8029	broad.mit.edu	37	chr10	16870839	16870839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggatggagagctggCgttgggcccatcatagagtg	9	8	16	8	1	1	3	1	0	0	3	2	5	2	4	2	4	1	2	2	4	1	2	rs139051724	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr10:16870839C>T	ENST00000377833.4	-	66	10794	c.10729G>A	c.(10729-10731)Gcc>Acc	p.A3577T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3577	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGAGCTGGCGTTGGGCCCA	0.443											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0	0.0014	5008	,	,		19480	0.003		0	False		,,,				2504	0					uc001ioo.3																			0		p.N3576N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10729-10731)Gcc>Acc		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	THR/ALA	0,4406		0,0,2203	131	122	125		10729	4.8	0	10	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	missense	CUBN	NM_001081.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	3577/3624	16870839	2,13004	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870839C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10729G>A	10.37:g.16870839C>T	ENSP00000367064:p.Ala3577Thr		OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713		p.A3577T	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10781	-			3577			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10729G>A	CCDS7113.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	4.219	0.039441	0.08148	0.0	2.33E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18960	2.18	5.74	4.84	0.62591	CUB (5);	0.172184	0.27749	N	0.018004	T	0.12561	0.0305	N	0.17901	0.54	0.20403	N	0.999904	P	0.35527	0.507	B	0.33568	0.166	T	0.18366	-1.0339	10	0.26408	T	0.33	.	9.7383	0.40401	0.0:0.7933:0.0:0.2067	.	3577	O60494	CUBN_HUMAN	T	3577;418	ENSP00000367064:A3577T	ENSP00000367064:A3577T	A	-	1	0	CUBN	16910845	0.014000	0.17966	0.002000	0.10522	0.002000	0.02628	0.637000	0.24659	1.435000	0.47434	0.561000	0.74099	GCC		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16870839	C	T	16870839	3	4	226	1	0	0	0	0	1	0	0	0	4051	768	27	1	150	1	CUBN	10	16870839	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		16870839	118663908	29	15793											
OR52M1	119772	broad.mit.edu	37	chr11	4566817	4566817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctgcaacccactaCgtcatagcatggtgctcact	9	10	8	14	1	3	0	2	0	1	0	3	0	3	0	2	2	5	3	2	2	3	2	rs201225598	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:4566817C>T	ENST00000360213.1	+	1	397	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACCCACTACGTCATAGCAT	0.522													C|||	2	0.000399361	0	0	5008	,	,		20636	0.001		0.001	False		,,,				2504	0					uc010qyf.2																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(397-399)Cgt>Tgt		Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.		C	CYS/ARG	0,4402		0,0,2201	127	115	119		397	2	0	11		119	2,8594	2.2+/-6.3	0,2,4296	yes	missense	OR52M1	NM_001004137.1	180	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	133/318	4566817	2,12996	2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566817C>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.397C>T	11.37:g.4566817C>T	ENSP00000353343:p.Arg133Cys						p.R133C	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	397	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	133						Missense_Mutation	SNP	ENST00000360213.1	37	c.397C>T	CCDS31353.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.975	1.226673	0.22542	0.0	2.33E-4	ENSG00000197790	ENST00000360213	T	0.00922	5.54	4.98	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.968659	0.08473	N	0.940668	T	0.03477	0.0100	M	0.91717	3.235	0.09310	N	1	D	0.67145	0.996	P	0.49528	0.614	T	0.36939	-0.9727	10	0.72032	D	0.01	.	4.3967	0.11367	0.1541:0.577:0.0:0.2688	.	133	Q8NGK5	O52M1_HUMAN	C	133	ENSP00000353343:R133C	ENSP00000353343:R133C	R	+	1	0	OR52M1	4523393	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.669000	0.05262	0.334000	0.23590	0.650000	0.86243	CGT		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		T	4566817	C	T	4566817	3	4	226	1	0	0	0	0	1	0	0	0	11126	536	19	1	399	1	OR52M1	11	4566817	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		4566817	130439699	30	15794											
OR4S2	219431	broad.mit.edu	37	chr11	55419151	55419151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtacttttatgtacatgCgccctgatacgaccttttca	8	15	6	12	2	1	1	1	1	0	0	1	2	1	1	3	0	4	2	3	0	4	7	rs188197652	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:55419151C>T	ENST00000312422.2	+	1	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATGTACATGCGCCCTGATAC	0.463													c|||	3	0.000599042	0	0.0014	5008	,	,		14256	0		0.002	False		,,,				2504	0					uc001nhs.1																			0		p.R258R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(772-774)Cgc>Tgc		Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.		C	CYS/ARG	0,4358		0,0,2179	157	134	142		772	2.3	1	11		142	1,8053		0,1,4026	no	missense	OR4S2	NM_001004059.2	180	0,1,6205	TT,TC,CC		0.0124,0.0,0.0081	possibly-damaging	258/312	55419151	1,12411	2179	4027	6206	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419151C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.772C>T	11.37:g.55419151C>T	ENSP00000310337:p.Arg258Cys						p.R258C	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			0	772	+		all_epithelial(135;0.0748)	258					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.772C>T	CCDS31505.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.72	2.321625	0.41096	0.0	1.24E-4	ENSG00000174982	ENST00000312422	T	0.35789	1.29	5.35	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000264	T	0.37839	0.1018	M	0.83483	2.645	0.42809	D	0.993959	P	0.43094	0.799	B	0.35859	0.212	T	0.41395	-0.9511	10	0.87932	D	0	.	10.6879	0.45854	0.1547:0.7666:0.0:0.0786	.	258	Q8NH73	OR4S2_HUMAN	C	258	ENSP00000310337:R258C	ENSP00000310337:R258C	R	+	1	0	OR4S2	55175727	0.000000	0.05858	0.989000	0.46669	0.942000	0.58702	-1.039000	0.03550	0.162000	0.19483	0.542000	0.68232	CGC		0.463	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		T	55419151	C	T	55419151	3	4	226	1	0	0	0	0	1	0	0	0	11083	768	27	1	774	1	OR4S2	11	55419151	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	50852334	55419151	79587365	31	15795											
SLC25A45	283130	broad.mit.edu	37	chr11	65143941	65143941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcattgacgggaaaggcGcgggcactgttgatggtgac	10	7	16	8	3	0	3	0	3	0	0	0	4	0	4	0	4	1	3	0	4	1	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:65143941G>A	ENST00000527174.1	-	6	859	c.804C>T	c.(802-804)cgC>cgT	p.R268R	SLC25A45_ENST00000377152.2_Silent_p.R164R|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000360662.3_Silent_p.R244R|SLC25A45_ENST00000294187.6_Silent_p.R226R|SLC25A45_ENST00000534028.1_Silent_p.R244R|SLC25A45_ENST00000417511.2_Silent_p.R226R|SLC25A45_ENST00000398802.1_Silent_p.R268R|SLC25A45_ENST00000526432.1_Silent_p.R206R			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGAAAGGCGCGGGCACTGT	0.617																																						uc001odr.1																			0		p.R268C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(802-804)cgC>cgT		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.							106	114	112					11																	65143941		2095	4212	6307	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65143941G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.804C>T	11.37:g.65143941G>A						SLC25A45_uc009yqi.1_Silent_p.R206R|SLC25A45_uc001odq.1_Silent_p.R244R|SLC25A45_uc001ods.1_Silent_p.R226R|SLC25A45_uc001odt.1_Silent_p.R226R	p.R268R	NM_182556	NP_001070709	Q8N413	S2545_HUMAN			6	1008	-			268					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.804C>T	CCDS41670.1																																																																																				0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		A	65143941	G	A	65143941	2	1	226	1	0	0	0	0	0	0	0	1	14510	1074	38	1		1	SLC25A45	11	65143941	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	9724790	65143941	69862575	32	15796											
CD3G	917	broad.mit.edu	37	chr11	118223167	118223167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccaccttcaaggaaacCagttgaggaggaattgaact	15	7	10	9	0	1	2	1	2	0	0	1	5	1	5	3	3	3	1	3	3	4	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:118223167C>A	ENST00000532917.1	+	6	600	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	CD3G_ENST00000392883.2_Missense_Mutation_p.Q74K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	178					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCAAGGAAACCAGTTGAGGAG	0.443																																						uc001psu.2																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6						c.(532-534)Cag>Aag		Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.							131	135	134					11																	118223167		2200	4296	6496	SO:0001583	missense	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118223167C>A	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.532C>A	11.37:g.118223167C>A	ENSP00000431445:p.Gln178Lys					CD3G_uc009zaa.1_Missense_Mutation_p.Q118K	p.Q178K	NM_000073	NP_000064	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	612	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	178					Q2HIZ6	Missense_Mutation	SNP	ENST00000532917.1	37	c.532C>A	CCDS8395.1	.	.	.	.	.	.	.	.	.	.	C	1.119	-0.655745	0.03480	.	.	ENSG00000160654	ENST00000392883;ENST00000532917	T;T	0.53640	1.01;0.61	5.94	2.92	0.33932	.	0.967039	0.08611	N	0.920039	T	0.33760	0.0874	L	0.34521	1.04	0.25674	N	0.985861	B	0.26318	0.146	B	0.22152	0.038	T	0.14868	-1.0457	10	0.02654	T	1	.	12.0527	0.53515	0.489:0.511:0.0:0.0	.	178	P09693	CD3G_HUMAN	K	74;178	ENSP00000376621:Q74K;ENSP00000431445:Q178K	ENSP00000376621:Q74K	Q	+	1	0	CD3G	117728377	0.002000	0.14202	0.743000	0.31040	0.514000	0.34195	0.297000	0.19101	0.330000	0.23485	0.650000	0.86243	CAG		0.443	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		A	118223167	C	A	118223167	3	1	226	1	0	0	0	0	1	0	0	0	3013	595	21	5	554	5	CD3G	11	118223167	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	53079226	118223167	16783349	33	15797											
KCNA6	3742	broad.mit.edu	37	chr12	4919731	4919731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctctgggccggccagggGcatcgccatcgtctccgtgt	4	8	15	14	4	2	0	0	0	2	0	5	1	2	0	4	4	1	2	4	4	0	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:4919731G>C	ENST00000280684.3	+	1	1390	c.524G>C	c.(523-525)gGc>gCc	p.G175A	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G175A			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	175					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCGGCCAGGGGCATCGCCATC	0.597										HNSCC(72;0.22)																												uc001qng.3																			0		p.R174R(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(523-525)gGc>gCc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.							57	52	54					12																	4919731		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919731G>C	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.524G>C	12.37:g.4919731G>C	ENSP00000280684:p.Gly175Ala	HNSCC(72;0.22)				KCNA6_uc021qtr.1_Missense_Mutation_p.G175A	p.G175A	NM_002235	NP_002226	P17658	KCNA6_HUMAN			0	1390	+			175						Missense_Mutation	SNP	ENST00000280684.3	37	c.524G>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409699	0.25465	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.60797	0.16;0.16	4.99	3.06	0.35304	.	0.525534	0.20653	N	0.088178	T	0.43233	0.1238	N	0.19112	0.55	0.41201	D	0.986375	B	0.17852	0.024	B	0.16289	0.015	T	0.27262	-1.0079	10	0.45353	T	0.12	.	14.6107	0.68514	0.0:0.445:0.5549:0.0	.	175	P17658	KCNA6_HUMAN	A	175	ENSP00000408321:G175A;ENSP00000280684:G175A	ENSP00000280684:G175A	G	+	2	0	KCNA6	4789992	0.998000	0.40836	1.000000	0.80357	0.789000	0.44602	0.633000	0.24598	0.627000	0.30340	0.563000	0.77884	GGC		0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		C	4919731	G	C	4919731	3	2	226	1	0	0	0	0	1	0	0	0	8007	1203	42	5	526	5	KCNA6	12	4919731	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		4919731	128932164	34	15798											
NANOG	79923	broad.mit.edu	37	chr12	7945667	7945667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaaaaaaggaagacaaggtCccggtcaagaaacagaagac	20	2	11	8	1	1	4	1	0	0	4	2	5	2	5	1	3	1	1	1	3	8	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:7945667C>T	ENST00000229307.4	+	2	492	c.273C>T	c.(271-273)gtC>gtT	p.V91V	NANOG_ENST00000526286.1_Silent_p.V91V	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	91					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGACAAGGTCCCGGTCAAGA	0.478																																						uc009zfy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(271-273)gtC>gtT		Homo sapiens Nanog homeobox (NANOG), mRNA.							50	45	47					12																	7945667		2202	4290	6492	SO:0001819	synonymous_variant	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945667C>T	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.273C>T	12.37:g.7945667C>T							p.V91V	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	489	+			91					D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	c.273C>T	CCDS31736.1																																																																																				0.478	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		T	7945667	C	T	7945667	2	4	226	1	0	0	0	0	0	0	0	1	10150	842	30	3		3	NANOG	12	7945667	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	3025936	7945667	125906228	35	15799											
FAM60A	58516	broad.mit.edu	37	chr12	31451078	31451078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaactggaggacttagCtctgcaaatacagcagccct	12	8	10	11	1	1	1	0	0	1	1	2	4	1	3	1	2	6	3	1	2	4	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:31451078C>T	ENST00000337682.4	-	2	429	c.61G>A	c.(61-63)Gct>Act	p.A21T	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.A21T|FAM60A_ENST00000542983.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	21					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTAGCTCTGCAAATA	0.418																																						uc001rkc.3																			0				large_intestine(1)|lung(2)	3						c.(136-138)Gct>Act		Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.							107	101	103					12																	31451078		2203	4300	6503	SO:0001583	missense	58516							g.chr12:31451078C>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.61G>A	12.37:g.31451078C>T	ENSP00000337477:p.Ala21Thr					FAM60A_uc010sjz.2_Missense_Mutation_p.A21T|FAM60A_uc001rkd.3_Missense_Mutation_p.A21T|FAM60A_uc010ska.2_Missense_Mutation_p.A21T|FAM60A_uc001rke.3_Missense_Mutation_p.A21T|FAM60A_uc010skb.2_Intron	p.A46T	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN			0	378	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		21					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.136G>A	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883690	0.72410	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54965	1.715	0.80722	D	1	B;P	0.36683	0.035;0.565	B;B	0.34385	0.013;0.181	T	0.53683	-0.8404	10	0.41790	T	0.15	-17.1109	18.1981	0.89829	0.0:1.0:0.0:0.0	.	21;62	Q9NP50;B7Z287	FA60A_HUMAN;.	T	21;21;62;21;21	ENSP00000337477:A21T;ENSP00000393279:A21T;ENSP00000443881:A21T;ENSP00000437363:A21T	ENSP00000337477:A21T	A	-	1	0	FAM60A	31342345	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.588000	0.60999	2.350000	0.79820	0.655000	0.94253	GCT		0.418	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		T	31451078	C	T	31451078	3	4	226	1	0	0	0	0	1	0	0	0	5595	797	28	3	624	3	FAM60A	12	31451078	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	23505411	31451078	102400817	36	15800											
TAOK3	51347	broad.mit.edu	37	chr12	118599775	118599775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctctcgggtggactcgtCgtgccggattagcatggcat	6	11	14	10	4	1	0	0	0	1	0	4	2	1	2	1	4	3	3	1	4	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:118599775C>T	ENST00000392533.3	-	18	2447	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	TAOK3_ENST00000419821.2_Missense_Mutation_p.D653N|TAOK3_ENST00000543709.1_5'Flank|TAOK3_ENST00000537952.1_Missense_Mutation_p.D193N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	653					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGACTCGTCGTGCCGGATT	0.507																																						uc001twx.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(1957-1959)Gac>Aac		Homo sapiens TAO kinase 3 (TAOK3), mRNA.							198	162	174					12																	118599775		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118599775C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1957G>A	12.37:g.118599775C>T	ENSP00000376317:p.Asp653Asn					TAOK3_uc001twv.3_Missense_Mutation_p.D193N|TAOK3_uc001tww.3_Missense_Mutation_p.D483N|TAOK3_uc001twy.4_Missense_Mutation_p.D653N	p.D653N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			17	2252	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		653					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1957G>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904922	0.72868	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.52526	0.66;0.66;0.66	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.57536	1.79	0.54753	D	0.999987	P	0.51351	0.944	B	0.32864	0.154	T	0.50406	-0.8832	10	0.44086	T	0.13	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	653	Q9H2K8	TAOK3_HUMAN	N	653;653;193;271	ENSP00000416374:D653N;ENSP00000376317:D653N;ENSP00000443834:D193N	ENSP00000352863:D271N	D	-	1	0	TAOK3	117084158	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.109000	0.50345	2.894000	0.99253	0.655000	0.94253	GAC		0.507	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		T	118599775	C	T	118599775	3	4	226	1	0	0	0	0	1	0	0	0	15546	884	31	2	755	2	TAOK3	12	118599775	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	87148697	118599775	15252120	37	15801											
ABCB9	23457	broad.mit.edu	37	chr12	123430663	123430663	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaggtacacctctgccTcctcctcctcattggcgaag	6	10	8	17	2	2	0	1	0	1	0	6	1	6	0	6	2	2	2	6	2	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:123430663T>G	ENST00000542678.1	-	6	3998	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	ABCB9_ENST00000392439.3_Missense_Mutation_p.E387A|ABCB9_ENST00000280560.8_Missense_Mutation_p.E387A|ABCB9_ENST00000540285.1_Missense_Mutation_p.E387A|ABCB9_ENST00000442028.2_Missense_Mutation_p.E387A|ABCB9_ENST00000442833.2_Missense_Mutation_p.E387A|ABCB9_ENST00000541983.1_5'Flank|ABCB9_ENST00000346530.5_Missense_Mutation_p.E387A|ABCB9_ENST00000344275.7_Missense_Mutation_p.E387A			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	387	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Poly-Glu.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACCTCTGCCTCCTCCTCCTC	0.602																																					Ovarian(49;786 1333 9175 38236)	uc001udm.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1159-1161)gAg>gCg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.							106	78	87					12																	123430663		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123430663T>G	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1160A>C	12.37:g.123430663T>G	ENSP00000440288:p.Glu387Ala					ABCB9_uc021rfo.1_Missense_Mutation_p.E387A|ABCB9_uc021rfp.1_Missense_Mutation_p.E387A|ABCB9_uc010tai.2_5'Flank|ABCB9_uc001udo.4_Missense_Mutation_p.E387A|ABCB9_uc010taj.2_Missense_Mutation_p.E387A|ABCB9_uc001udq.3_Missense_Mutation_p.E169A|ABCB9_uc021rfq.1_Missense_Mutation_p.E387A|ABCB9_uc001udr.3_Missense_Mutation_p.E387A	p.E387A	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	5	1470	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		387			ABC transmembrane type-1.|Poly-Glu.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1160A>C	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815695	0.90790	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000542448;ENST00000540971;ENST00000536976;ENST00000546077	D;D;D;D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.0	5.0	0.66597	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;0.966;0.994;0.999	D;D;P;D;D	0.85130	0.997;0.953;0.838;0.944;0.989	D	0.96356	0.9262	10	0.54805	T	0.06	-37.8604	14.3929	0.66991	0.0:0.0:0.0:1.0	.	387;387;169;387;387	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	A	387;387;387;387;387;387;13;93;149;44	ENSP00000280560:E387A;ENSP00000441734:E387A;ENSP00000280559:E387A;ENSP00000376234:E387A;ENSP00000440288:E387A;ENSP00000394898:E387A;ENSP00000440244:E13A;ENSP00000441086:E93A;ENSP00000443433:E149A;ENSP00000443224:E44A	ENSP00000280560:E387A	E	-	2	0	ABCB9	121996616	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.008000	0.88588	1.873000	0.54277	0.459000	0.35465	GAG		0.602	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		G	123430663	T	G	123430663	3	3	226	1	0	0	0	0	1	0	0	0	48	1551	54	5	1168	5	ABCB9	12	123430663	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08	4830888	123430663	10421232	38	15802											
FRMD6	122786	broad.mit.edu	37	chr14	52179253	52179253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcccctggacaaatgttgGaaaattggtgtttgtggtaa	10	15	11	5	0	0	0	0	0	0	0	1	2	1	2	2	4	0	3	2	4	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:52179253G>T	ENST00000344768.5	+	9	1029	c.833G>T	c.(832-834)gGa>gTa	p.G278V	FRMD6_ENST00000395718.2_Missense_Mutation_p.G270V|FRMD6_ENST00000554167.1_Missense_Mutation_p.G201V|FRMD6_ENST00000356218.4_Missense_Mutation_p.G270V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	278	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACAAATGTTGGAAAATTGGTG	0.284																																						uc001wzd.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(832-834)gGa>gTa		Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.							95	99	98					14																	52179253		2201	4300	6501	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52179253G>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.833G>T	14.37:g.52179253G>T	ENSP00000343899:p.Gly278Val					FRMD6_uc001wzb.3_Missense_Mutation_p.G270V|FRMD6_uc001wzc.3_Missense_Mutation_p.G270V|FRMD6_uc001wze.3_Missense_Mutation_p.G201V|FRMD6_uc001wzf.3_5'Flank	p.G278V	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			8	1118	+	all_epithelial(31;0.0163)|Breast(41;0.089)		278			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.833G>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853765	0.91355	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.76	5.76	0.90799	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	M	0.75264	2.295	0.80722	D	1	P;P;D	0.55385	0.694;0.928;0.971	P;P;P	0.61070	0.452;0.883;0.861	D	0.92419	0.5944	10	0.54805	T	0.06	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	201;278;270	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	270;270;278;201;8	ENSP00000348550:G270V;ENSP00000379068:G270V;ENSP00000343899:G278V;ENSP00000451977:G201V;ENSP00000451157:G8V	ENSP00000343899:G278V	G	+	2	0	FRMD6	51249003	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.728000	0.98792	2.721000	0.93114	0.591000	0.81541	GGA		0.284	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		T	52179253	G	T	52179253	3	4	226	1	0	0	0	0	1	0	0	0	6054	1174	41	5	839	5	FRMD6	14	52179253	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		52179253	55170287	39	15803											
PLEKHH1	57475	broad.mit.edu	37	chr14	68026397	68026397	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaatgggtgacactcAagttggcaaaggtgggttgg	11	9	16	5	0	2	1	2	1	0	0	2	2	2	2	0	6	0	3	0	6	4	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:68026397A>C	ENST00000329153.5	+	5	544	c.412A>C	c.(412-414)Aag>Cag	p.K138Q		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	138						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGTGACACTCAAGTTGGCAAA	0.537																																						uc001xjl.1																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(412-414)Aag>Cag		Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.							70	76	74					14																	68026397		1927	4137	6064	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68026397A>C	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.412A>C	14.37:g.68026397A>C	ENSP00000330278:p.Lys138Gln						p.K138Q	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	4	554	+			138					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.412A>C	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028721	0.75504	.	.	ENSG00000054690	ENST00000329153	T	0.38077	1.16	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62826	-0.6772	10	0.62326	D	0.03	-26.3212	13.0364	0.58875	1.0:0.0:0.0:0.0	.	138	Q9ULM0	PKHH1_HUMAN	Q	138	ENSP00000330278:K138Q	ENSP00000330278:K138Q	K	+	1	0	PLEKHH1	67096150	1.000000	0.71417	0.931000	0.37212	0.641000	0.38312	7.550000	0.82173	2.270000	0.75569	0.459000	0.35465	AAG		0.537	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		C	68026397	A	C	68026397	3	2	226	1	0	0	0	0	1	0	0	0	12076	131	5	5	426	5	PLEKHH1	14	68026397	Missense_Mutation	SNP	A	TCGA-32-1986-01A-01D-1494-08	15847144	68026397	39323143	40	15804											
FBLN5	10516	broad.mit.edu	37	chr14	92403398	92403398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcagctgctgggtacGgacctgagtagggggtcgag	6	7	21	7	2	0	1	0	1	0	0	1	3	0	2	1	6	3	5	1	6	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:92403398G>A	ENST00000342058.4	-	4	865	c.272C>T	c.(271-273)cCg>cTg	p.P91L	FBLN5_ENST00000556154.1_Missense_Mutation_p.P96L|FBLN5_ENST00000267620.10_Missense_Mutation_p.P132L	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	91					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCTGGGTACGGACCTgagta	0.532																																						uc010aue.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(394-396)cCg>cTg		Homo sapiens fibulin 5 (FBLN5), mRNA.							103	97	99					14																	92403398		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92403398G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.272C>T	14.37:g.92403398G>A	ENSP00000345008:p.Pro91Leu					FBLN5_uc010aud.3_Missense_Mutation_p.P96L|FBLN5_uc001xzx.4_Missense_Mutation_p.P91L	p.P132L	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			4	868	-		all_cancers(154;0.0722)	91			EGF-like 2; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.395C>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136028	0.37728	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154;ENST00000554468	D;D;D;D	0.82803	-1.59;-1.65;-1.61;-1.63	5.05	5.05	0.67936	.	0.149974	0.43260	D	0.000581	T	0.63861	0.2547	N	0.08118	0	0.23975	N	0.996295	B;B;B	0.23058	0.079;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.0	T	0.51395	-0.8711	10	0.37606	T	0.19	.	7.313	0.26485	0.1402:0.0:0.8598:0.0	.	132;96;91	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	L	132;91;96;91	ENSP00000267620:P132L;ENSP00000345008:P91L;ENSP00000451982:P96L;ENSP00000451486:P91L	ENSP00000267620:P188L	P	-	2	0	FBLN5	91473151	1.000000	0.71417	0.600000	0.28864	0.977000	0.68977	4.367000	0.59498	2.640000	0.89533	0.561000	0.74099	CCG		0.532	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			A	92403398	G	A	92403398	3	1	226	1	0	0	0	0	1	0	0	0	5700	1116	39	2	1106	2	FBLN5	14	92403398	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	24377001	92403398	14946142	41	15805											
TMCO5A	145942	broad.mit.edu	37	chr15	38233922	38233922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtgaagatcaagccctCtacataaaggtagagcttct	12	11	8	10	0	4	3	1	1	3	2	4	3	4	3	1	1	3	2	1	1	6	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:38233922C>T	ENST00000319669.4	+	7	597	c.495C>T	c.(493-495)ctC>ctT	p.L165L	TMCO5A_ENST00000558158.1_Silent_p.L165L|TMCO5A_ENST00000540944.1_Silent_p.L165L|TMCO5A_ENST00000559502.1_Silent_p.L165L	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	165						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ATCAAGCCCTCTACATAAAGG	0.363																																						uc001zjw.3																			0		p.L165P(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(493-495)ctC>ctT		Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.							90	88	88					15																	38233922		2200	4297	6497	SO:0001819	synonymous_variant	145942					integral to membrane		g.chr15:38233922C>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.495C>T	15.37:g.38233922C>T						TMCO5A_uc001zjv.1_Silent_p.L165L|TMCO5A_uc010bbc.1_Silent_p.L165L	p.L165L	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			6	597	+			165					Q8NA63	Silent	SNP	ENST00000319669.4	37	c.495C>T	CCDS10046.1																																																																																				0.363	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		T	38233922	C	T	38233922	2	4	226	1	0	0	0	0	0	0	0	1	15996	900	32	3		3	TMCO5A	15	38233922	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08		38233922	64297470	42	15806											
MAP1A	4130	broad.mit.edu	37	chr15	43816806	43816806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaaagaagatgctgcTgaggagacagtcaagccagg	13	5	16	7	0	1	4	1	1	0	3	1	5	1	4	1	3	3	3	1	3	3	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:43816806T>C	ENST00000300231.5	+	4	3585	c.3135T>C	c.(3133-3135)gcT>gcC	p.A1045A	MAP1A_ENST00000399453.1_Silent_p.A1045A|MAP1A_ENST00000382031.1_Silent_p.A1283A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1045					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGATGCTGCTGAGGAGACAG	0.572																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3133-3135)gcT>gcC		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						47	52	50					15																	43816806		2016	4173	6189	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816806T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3135T>C	15.37:g.43816806T>C							p.A1045A	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	3602	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1045					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.3135T>C	CCDS42031.1																																																																																				0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		C	43816806	T	C	43816806	2	2	226	1	0	0	0	0	0	0	0	1	9227	1567	55	4		4	MAP1A	15	43816806	Silent	SNP	T	TCGA-32-1986-01A-01D-1494-08	5582884	43816806	58714586	43	15807											
SENP8	123228	broad.mit.edu	37	chr15	72432114	72432114	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgactgctctgatcaCgtcagtttcatcagccctga	8	14	7	12	1	6	3	5	3	1	0	6	3	6	3	1	0	2	2	1	0	0	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:72432114C>T	ENST00000542035.2	+	2	483	c.150C>T	c.(148-150)caC>caT	p.H50H	SENP8_ENST00000544411.1_Silent_p.H50H|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000340912.4_Silent_p.H50H|SENP8_ENST00000544171.1_Silent_p.H50H	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	50	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCTCTGATCACGTCAGTTTCA	0.478																																						uc021spq.1																			0		p.D49H(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(148-150)caC>caT		Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.							164	143	150					15																	72432114		2199	4297	6496	SO:0001819	synonymous_variant	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432114C>T	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.150C>T	15.37:g.72432114C>T						SENP8_uc021spr.1_Silent_p.H50H|SENP8_uc021sps.1_Silent_p.H50H|SENP8_uc021spt.1_Silent_p.H50H|SENP8_uc002atp.3_Silent_p.H50H|SENP8_uc021spu.1_Silent_p.H50H	p.H50H	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN			1	483	+			50			Protease.		Q96QA4	Silent	SNP	ENST00000542035.2	37	c.150C>T	CCDS10240.1																																																																																				0.478	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		T	72432114	C	T	72432114	2	4	226	1	0	0	0	0	0	0	0	1	14052	535	19	1		1	SENP8	15	72432114	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	28615308	72432114	30099278	44	15808											
LRRK1	79705	broad.mit.edu	37	chr15	101528988	101528988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagttccctgtcatcgtgCgcttgcccctgtatgcggcc	4	12	11	14	3	1	1	1	1	0	0	3	1	2	1	4	1	3	3	4	1	1	3	rs201889926		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:101528988C>T	ENST00000388948.3	+	5	942	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	LRRK1_ENST00000284395.5_Missense_Mutation_p.R192C|LRRK1_ENST00000532029.2_Missense_Mutation_p.R195C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCATCGTGCGCTTGCCCCT	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		19934	0		0	False		,,,				2504	0					uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(583-585)Cgc>Tgc		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.		C	CYS/ARG	0,4156		0,0,2078	52	54	53		583	3.4	1	15		53	1,8391		0,1,4195	no	missense	LRRK1	NM_024652.3	180	0,1,6273	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	195/2016	101528988	1,12547	2078	4196	6274	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528988C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.583C>T	15.37:g.101528988C>T	ENSP00000373600:p.Arg195Cys					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.R195C	p.R195C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	902	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		195						Missense_Mutation	SNP	ENST00000388948.3	37	c.583C>T	CCDS42086.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.51	3.841418	0.71488	0.0	1.19E-4	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.73258	-0.73;-0.22;2.74	5.5	3.44	0.39384	Ankyrin repeat-containing domain (3);	0.144814	0.43260	D	0.000586	T	0.72843	0.3511	N	0.24115	0.695	0.20196	N	0.999927	D;D	0.89917	0.997;1.0	P;D	0.74674	0.642;0.984	T	0.66212	-0.5980	10	0.59425	D	0.04	.	13.3587	0.60644	0.394:0.606:0.0:0.0	.	195;195	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	195;192;195	ENSP00000373600:R195C;ENSP00000284395:R192C;ENSP00000433268:R195C	ENSP00000284395:R192C	R	+	1	0	LRRK1	99346511	0.996000	0.38824	0.986000	0.45419	0.992000	0.81027	2.020000	0.41010	1.301000	0.44836	0.650000	0.86243	CGC		0.607	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101528988	C	T	101528988	3	4	226	1	0	0	0	0	1	0	0	0	9032	768	27	1	597	1	LRRK1	15	101528988	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	29096874	101528988	1002404	45	15809											
ZNF646	9726	broad.mit.edu	37	chr16	31091658	31091658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagacctactccaaccGcatggccctgaaggaccacc	11	4	7	19	1	0	2	0	1	0	1	1	3	1	3	8	2	2	1	8	2	4	1	rs201923917		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:31091658G>A	ENST00000394979.2	+	1	4436	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1338H			O15015	ZN646_HUMAN	zinc finger protein 646	1338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTCCAACCGCATGGCCCTG	0.697																																						uc002eap.3																			0		p.N1337I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(4012-4014)cGc>cAc		Homo sapiens zinc finger protein 646 (ZNF646), mRNA.							52	48	50					16																	31091658		2197	4299	6496	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091658G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4013G>A	16.37:g.31091658G>A	ENSP00000378429:p.Arg1338His					ZNF646_uc021tgu.1_Missense_Mutation_p.R1338H	p.R1338H	NM_014699	NP_055514	O15015	ZN646_HUMAN			1	4302	+			1338					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.4013G>A		.	.	.	.	.	.	.	.	.	.	G	12.53	1.964384	0.34659	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.53206	0.63;0.63	5.13	3.14	0.36123	.	.	.	.	.	T	0.31606	0.0802	L	0.41632	1.29	0.25692	N	0.98567	B	0.28082	0.2	B	0.15052	0.012	T	0.17379	-1.0371	9	0.15066	T	0.55	-4.5811	6.5074	0.22202	0.0842:0.0:0.4818:0.434	.	1338	O15015-2	.	H	1338	ENSP00000300850:R1338H;ENSP00000378429:R1338H	ENSP00000300850:R1338H	R	+	2	0	ZNF646	30999159	0.000000	0.05858	0.998000	0.56505	0.972000	0.66771	-0.471000	0.06631	0.715000	0.32103	0.561000	0.74099	CGC		0.697	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31091658	G	A	31091658	3	1	226	1	0	0	0	0	1	0	0	0	18059	1087	38	1	4015	1	ZNF646	16	31091658	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		31091658	59263095	46	15810											
CDH13	1012	broad.mit.edu	37	chr16	83704446	83704446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttattgtcaatttgacaGttgaagataaggatgacccc	13	12	10	6	0	1	4	1	3	0	1	1	6	1	5	2	1	0	2	2	1	4	5	rs371866515		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:83704446G>A	ENST00000566620.1	+	9	1443	c.1153G>A	c.(1153-1155)Gtt>Att	p.V385I	CDH13_ENST00000268613.10_Missense_Mutation_p.V432I|CDH13_ENST00000428848.3_Missense_Mutation_p.V346I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	385	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CAATTTGACAGTTGAAGATAA	0.478																																						uc010vns.2																			0				large_intestine(1)	1						c.(1294-1296)Gtt>Att		Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,3916		0,0,1958	92	91	91		1294,1036,391,1153	5.8	0.8	16		91	2,8282		0,2,4140	no	missense,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	29,29,29,29	0,2,6098	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	432/761,346/675,131/460,385/714	83704446	2,12198	1958	4142	6100	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704446G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1153G>A	16.37:g.83704446G>A	ENSP00000454435:p.Val385Ile					CDH13_uc002fgx.3_Missense_Mutation_p.V385I|CDH13_uc010vnt.2_Missense_Mutation_p.V131I|CDH13_uc010vnu.2_Missense_Mutation_p.V346I	p.V432I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1558	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	385			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1294G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888840	0.91814	0.0	2.41E-4	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.53206	0.63	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72771	0.3502	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.91635	0.999;0.992;0.992	T	0.74185	-0.3747	9	0.52906	T	0.07	.	18.9266	0.92548	0.0:0.0:1.0:0.0	.	346;432;385	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	I	432;385;346;87;75	ENSP00000268613:V432I	ENSP00000268613:V432I	V	+	1	0	CDH13	82261947	1.000000	0.71417	0.765000	0.31456	0.983000	0.72400	6.064000	0.71169	2.717000	0.92951	0.585000	0.79938	GTT		0.478	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		A	83704446	G	A	83704446	3	1	226	1	0	0	0	0	1	0	0	0	3099	1029	36	3	1187	3	CDH13	16	83704446	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	52612788	83704446	6650307	47	15811											
MYO15A	51168	broad.mit.edu	37	chr17	18025430	18025430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcccaaggggggtgaaCggcgccaggcagcccctggg	6	3	17	15	2	0	1	0	1	0	0	0	1	0	1	5	6	3	1	5	6	2	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:18025430C>T	ENST00000205890.5	+	2	3654	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1106					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1106W(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGGGGTGAACGGCGCCAGGC	0.672																																						uc021trm.1																			1	Substitution - Missense(1)	p.R1106W(2)	large_intestine(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3316-3318)Cgg>Tgg		Homo sapiens myosin XVA (MYO15A), mRNA.							40	46	44					17																	18025430		1976	4148	6124	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025430C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3316C>T	17.37:g.18025430C>T	ENSP00000205890:p.Arg1106Trp					MYO15A_uc021trl.1_Missense_Mutation_p.R1106W	p.R1106W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			0	3535	+	all_neural(463;0.228)		1106			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3316C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	9.815	1.184092	0.21870	.	.	ENSG00000091536	ENST00000205890	D	0.88509	-2.39	4.95	-3.5	0.04710	.	.	.	.	.	T	0.79540	0.4463	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.66160	-0.5993	9	0.87932	D	0	.	8.2602	0.31779	0.6634:0.2524:0.0:0.0842	.	1106	Q9UKN7	MYO15_HUMAN	W	1106	ENSP00000205890:R1106W	ENSP00000205890:R1106W	R	+	1	2	MYO15A	17966155	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.681000	0.01937	-0.488000	0.06726	-0.521000	0.04368	CGG		0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18025430	C	T	18025430	3	4	226	1	0	0	0	0	1	0	0	0	10063	527	19	1	3318	1	MYO15A	17	18025430	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		18025430	63169780	48	15812											
TP53I13	90313	broad.mit.edu	37	chr17	27899640	27899640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccacgctctgcacaCggctgcacagaaacttccga	9	6	9	17	3	1	1	0	0	1	1	2	2	2	1	3	2	3	4	3	2	1	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:27899640C>G	ENST00000301057.7	+	6	1109	c.994C>G	c.(994-996)Cgg>Ggg	p.R332G	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	332						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GCTCTGCACACGGCTGCACAG	0.682																																						uc002hee.3																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(994-996)Cgg>Ggg		Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.							8	9	9					17																	27899640		2116	4220	6336	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899640C>G	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.994C>G	17.37:g.27899640C>G	ENSP00000301057:p.Arg332Gly						p.R332G	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	5	1032	+			332					Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.994C>G	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625448	0.28889	.	.	ENSG00000167543	ENST00000301057;ENST00000378818	.	.	.	4.52	1.13	0.20643	.	0.075170	0.53938	D	0.000052	T	0.75347	0.3837	M	0.73598	2.24	0.41455	D	0.988007	D	0.89917	1.0	D	0.91635	0.999	T	0.76055	-0.3099	9	0.87932	D	0	-21.9014	11.2351	0.48936	0.4764:0.5235:0.0:0.0	.	332	Q8NBR0	P5I13_HUMAN	G	332;99	.	ENSP00000301057:R332G	R	+	1	2	TP53I13	24923766	0.717000	0.27966	0.705000	0.30386	0.995000	0.86356	1.249000	0.32839	0.180000	0.19960	0.462000	0.41574	CGG		0.682	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		G	27899640	C	G	27899640	3	3	226	1	0	0	0	0	1	0	0	0	16383	527	19	5	1016	5	TP53I13	17	27899640	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	9874210	27899640	53295570	49	15813											
NF1	4763	broad.mit.edu	37	chr17	29556164	29556164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaacatgactggcttccTttgtgcccttgggggagtgt	6	13	13	9	0	1	1	1	1	0	0	2	3	2	2	2	3	2	1	2	3	1	3	rs137854566		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:29556164T>C	ENST00000358273.4	+	21	2914	c.2531T>C	c.(2530-2532)cTt>cCt	p.L844P	NF1_ENST00000356175.3_Missense_Mutation_p.L844P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	844			L -> F (in NF1; dbSNP:rs199474785). {ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:15060124}.|L -> P (in NF1; dbSNP:rs137854566). {ECO:0000269|PubMed:15060124}.|L -> R (in NF1; sporadic; dbSNP:rs137854566). {ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:9150739}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGGCTTCCTTTGTGCCCTT	0.517			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM040780|CM971041	NF1	M	rs137854566	c.(2530-2532)cTt>cCt		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							35	32	33					17																	29556164		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556164T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2531T>C	17.37:g.29556164T>C	ENSP00000351015:p.Leu844Pro	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Missense_Mutation_p.L844P|NF1_uc010csn.2_Missense_Mutation_p.L704P|NF1_uc002hgi.1_5'UTR	p.L844P	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2914	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	844		L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2531T>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.284471	0.80803	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.36878	1.43;1.58;1.23	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.78049	2.395	0.80722	D	1	D;D;P	0.89917	1.0;0.997;0.93	D;D;P	0.91635	0.999;0.994;0.831	T	0.67341	-0.5695	10	0.87932	D	0	.	15.7546	0.78013	0.0:0.0:0.0:1.0	.	844;844;844	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	P	844;844;510	ENSP00000351015:L844P;ENSP00000348498:L844P;ENSP00000389907:L510P	ENSP00000348498:L844P	L	+	2	0	NF1	26580290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.127000	0.65507	0.454000	0.30748	CTT		0.517	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29556164	T	C	29556164	3	2	226	1	0	0	0	0	1	0	0	0	10356	1609	56	4	2674	4	NF1	17	29556164	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08	1656524	29556164	51639046	50	15814											
SLFN11	91607	broad.mit.edu	37	chr17	33680901	33680901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctatcagcagagcatcaCagatgactcctggcttctcc	9	10	9	13	0	3	3	2	1	1	2	5	3	4	3	2	1	3	4	2	1	1	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33680901C>G	ENST00000394566.1	-	6	1648	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN11_ENST00000308377.4_Missense_Mutation_p.C459S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	459					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGAGCATCACAGATGACTCC	0.488																																						uc002hjg.4																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(1375-1377)tGt>tCt		Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.							58	55	56					17																	33680901		2203	4298	6501	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33680901C>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1376G>C	17.37:g.33680901C>G	ENSP00000378067:p.Cys459Ser					SLFN11_uc010ctr.3_Missense_Mutation_p.C459S|SLFN11_uc010ctp.3_Missense_Mutation_p.C459S|SLFN11_uc010ctq.3_Missense_Mutation_p.C459S|SLFN11_uc002hjh.4_Missense_Mutation_p.C459S	p.C459S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1623	-		Ovarian(249;0.17)	459					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.1376G>C	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221315	0.58560	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02737	4.18;4.18	3.54	3.54	0.40534	.	0.000000	0.49916	D	0.000121	T	0.15652	0.0377	M	0.87682	2.9	0.31521	N	0.66241	D	0.89917	1.0	D	0.87578	0.998	T	0.02877	-1.1099	10	0.87932	D	0	.	10.7966	0.46464	0.0:1.0:0.0:0.0	.	459	Q7Z7L1	SLN11_HUMAN	S	459	ENSP00000312402:C459S;ENSP00000378067:C459S	ENSP00000312402:C459S	C	-	2	0	SLFN11	30705014	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	4.762000	0.62250	1.978000	0.57642	0.650000	0.86243	TGT		0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		G	33680901	C	G	33680901	3	3	226	1	0	0	0	0	1	0	0	0	14733	478	17	5	1337	5	SLFN11	17	33680901	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	4124737	33680901	47514309	51	15815											
SLFN13	146857	broad.mit.edu	37	chr17	33769128	33769128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctatcagcagagcatcaCagatgactcctggcttctcc	9	10	9	13	0	3	3	2	1	1	2	5	3	4	3	2	1	3	4	2	1	1	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33769128C>G	ENST00000285013.6	-	5	1651	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN13_ENST00000534689.1_Missense_Mutation_p.C141S|SLFN13_ENST00000542635.1_Missense_Mutation_p.C459S|SLFN13_ENST00000526861.1_Missense_Mutation_p.C459S|SLFN13_ENST00000360502.2_Missense_Mutation_p.C141S|SLFN13_ENST00000533791.1_Missense_Mutation_p.C459S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	459						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGAGCATCACAGATGACTCC	0.527																																						uc002hjk.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1375-1377)tGt>tCt		Homo sapiens schlafen family member 13 (SLFN13), mRNA.							92	81	85					17																	33769128		2203	4298	6501	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33769128C>G	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1376G>C	17.37:g.33769128C>G	ENSP00000285013:p.Cys459Ser					SLFN13_uc010wch.1_Missense_Mutation_p.C459S|SLFN13_uc002hjl.2_Missense_Mutation_p.C459S|SLFN13_uc002hjm.2_Missense_Mutation_p.C128S|SLFN13_uc010ctt.2_Missense_Mutation_p.C141S	p.C459S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	2	1706	-			459					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1376G>C	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057554	0.55325	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.24538	4.19;3.61;4.19;4.19;3.61;1.85	3.05	3.05	0.35203	.	0.000000	0.50627	D	0.000113	T	0.50922	0.1644	M	0.85777	2.775	0.33271	D	0.561012	D;D	0.89917	1.0;0.981	D;D	0.91635	0.999;0.95	T	0.66472	-0.5915	10	0.87932	D	0	.	9.7287	0.40348	0.0:1.0:0.0:0.0	.	141;459	Q68D06-2;Q68D06	.;SLN13_HUMAN	S	459;141;459;459;141;128	ENSP00000285013:C459S;ENSP00000353692:C141S;ENSP00000434439:C459S;ENSP00000444016:C459S;ENSP00000435442:C141S;ENSP00000435328:C128S	ENSP00000285013:C459S	C	-	2	0	SLFN13	30793241	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.677000	0.61634	1.713000	0.51359	0.194000	0.17425	TGT		0.527	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		G	33769128	C	G	33769128	3	3	226	1	0	0	0	0	1	0	0	0	14736	478	17	5	1325	5	SLFN13	17	33769128	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	88227	33769128	47426082	52	15816											
KRT34	3885	broad.mit.edu	37	chr17	39535641	39535641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctcgatctccagggcGttgactgtgcgtctcagctc	5	11	12	13	3	2	1	1	1	2	0	6	2	2	1	1	1	4	4	1	1	0	1	rs145615462	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:39535641G>A	ENST00000394001.1	-	5	996	c.966C>T	c.(964-966)aaC>aaT	p.N322N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	322	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCAGGGCGTTGACTGTGC	0.597													g|||	3	0.000599042	0	0	5008	,	,		23289	0.002		0.001	False		,,,				2504	0					uc002hwm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(964-966)aaC>aaT		Homo sapiens keratin 34 (KRT34), mRNA.		G		1,4405	825.9+/-416.6	0,1,2202	124	101	109		966	-3.9	1	17	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	KRT34	NM_021013.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		322/437	39535641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535641G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.966C>T	17.37:g.39535641G>A							p.N322N	NM_021013	NP_066293	O76011	KRT34_HUMAN			4	978	-		Breast(137;0.000496)	322			Coil 2.|Rod.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.966C>T	CCDS11390.1																																																																																				0.597	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		A	39535641	G	A	39535641	2	1	226	1	0	0	0	0	0	0	0	1	8471	1136	40	1		1	KRT34	17	39535641	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	5766513	39535641	41659569	53	15817											
DDX5	1655	broad.mit.edu	37	chr17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-																															actgtaaacaccattctgagTttttgccccaaaatctcttt																										TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)actfs	p.T530fs	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1588-1590)actfs		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.							135	141	139					17																	62496298		2203	4300	6503	SO:0001589	frameshift_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496298delT	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1588delA	17.37:g.62496298delT	ENSP00000225792:p.Thr530fs					DDX5_uc002jek.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	p.T530fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		12	1631	-	Breast(5;2.15e-14)		530					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	37	c.1588delA	CCDS11659.1																																																																																				0.413	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		-	62496298	T	-	62496298	7	5	226	1	0	1	0	1	0	0	0	0	4367	1725	60	0	260	0	DDX5	17	62496298	Frame_Shift_Del	DEL	T	TCGA-32-1986-01A-01D-1494-08	22960657	62496298	18698912	54	15818											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043872	77043872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacttcaacatgttcaccgGcaagttctactgctacgtgc	9	11	7	14	2	3	0	2	0	1	0	3	0	3	0	2	1	5	4	2	1	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:77043872G>A	ENST00000339142.2	+	5	1103	c.548G>A	c.(547-549)gGc>gAc	p.G183D	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G101D|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G101D|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G183D|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G193D|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G183D	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	183	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ATGTTCACCGGCAAGTTCTAC	0.547																																						uc002jwt.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(841-843)gGc>gAc		Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.							174	157	163					17																	77043872		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77043872G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.548G>A	17.37:g.77043872G>A	ENSP00000340864:p.Gly183Asp					C1QTNF1_uc002jwp.3_Missense_Mutation_p.G183D|C1QTNF1_uc002jwq.3_Missense_Mutation_p.G101D|C1QTNF1_uc002jwr.4_Missense_Mutation_p.G193D|C1QTNF1_uc002jws.3_Missense_Mutation_p.G183D	p.G281D	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		2	924	+			183			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.842G>A	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797864	0.90538	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.68025	-0.3;-0.3;-0.3	4.72	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.88518	0.6458	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93062	0.6475	10	0.87932	D	0	.	17.6634	0.88198	0.0:0.0:1.0:0.0	.	193;193;183	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	D	183;101;193;183;193	ENSP00000340864:G183D;ENSP00000311265:G101D;ENSP00000343230:G193D	ENSP00000311265:G101D	G	+	2	0	C1QTNF1	74555467	1.000000	0.71417	0.751000	0.31187	0.980000	0.70556	9.778000	0.99011	2.148000	0.66965	0.561000	0.74099	GGC		0.547	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		A	77043872	G	A	77043872	3	1	226	1	0	0	0	0	1	0	0	0	1962	1203	42	3	558	3	C1QTNF1	17	77043872	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	14547574	77043872	4151338	55	15819											
KIAA0802	23255	broad.mit.edu	37	chr18	8807023	8807023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacaaggcggcctgggacGtggagtgggccgtgctcaag	7	5	19	10	4	1	0	1	0	0	0	1	3	1	2	2	5	1	1	2	5	2	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr18:8807023G>A	ENST00000306329.11	+	9	3526	c.3526G>A	c.(3526-3528)Gtg>Atg	p.V1176M	SOGA2_ENST00000518815.1_Missense_Mutation_p.V172M|SOGA2_ENST00000517570.1_Missense_Mutation_p.V816M|SOGA2_ENST00000306285.7_Missense_Mutation_p.V172M|SOGA2_ENST00000400050.3_Missense_Mutation_p.V816M|SOGA2_ENST00000359865.3_Missense_Mutation_p.V857M																							GGCCTGGGACGTGGAGTGGGC	0.637																																						uc002knr.2																			0											c.(2569-2571)Gtg>Atg		Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.							80	61	67					18																	8807023		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8807023G>A																												ENST00000306329.11:c.3526G>A	18.37:g.8807023G>A	ENSP00000305027:p.Val1176Met					SOGA2_uc002knq.2_Missense_Mutation_p.V816M|SOGA2_uc002kns.2_Missense_Mutation_p.V187M	p.V857M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			10	2711	+			1167						Missense_Mutation	SNP	ENST00000306329.11	37	c.2569G>A		.	.	.	.	.	.	.	.	.	.	G	17.79	3.477118	0.63849	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.87	4.1	0.47936	.	0.280095	0.25860	N	0.027821	T	0.62073	0.2398	L	0.41961	1.31	0.41219	D	0.986498	D;D	0.89917	0.982;1.0	B;D	0.79108	0.194;0.992	T	0.57596	-0.7784	10	0.30078	T	0.28	-23.7475	12.3011	0.54874	0.1357:0.0:0.8643:0.0	.	1167;857	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	M	878;816;857;816;172	ENSP00000429556:V816M;ENSP00000352927:V857M;ENSP00000382924:V816M;ENSP00000303670:V172M	ENSP00000303670:V172M	V	+	1	0	CCDC165	8797023	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	1.694000	0.37752	0.837000	0.34925	0.655000	0.94253	GTG		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			A	8807023	G	A	8807023	3	1	226	1	0	0	0	0	1	0	0	0	8194	1145	40	1	2603	1	KIAA0802	18	8807023	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		8807023	69270225	56	15820											
NKG7	4818	broad.mit.edu	37	chr19	51875671	51875671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctgttggccagaggcccGagtgagctgagtgggtggga	6	7	19	9	1	0	3	0	2	0	1	0	5	0	4	3	4	1	2	3	4	0	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr19:51875671G>A	ENST00000221978.5	-	1	298	c.119C>T	c.(118-120)tCg>tTg	p.S40L	NKG7_ENST00000595217.1_Missense_Mutation_p.S40L|NKG7_ENST00000600427.1_Missense_Mutation_p.S40L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	40						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCAGAGGCCCGAGTGAGCTGA	0.607																																						uc002pwj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(118-120)tCg>tTg		Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.							121	115	117					19																	51875671		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875671G>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.119C>T	19.37:g.51875671G>A	ENSP00000221978:p.Ser40Leu					NKG7_uc002pwk.3_Missense_Mutation_p.S40L	p.S40L	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	0	290	-		all_neural(266;0.0199)	40						Missense_Mutation	SNP	ENST00000221978.5	37	c.119C>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672131	0.47781	.	.	ENSG00000105374	ENST00000221978	T	0.07021	3.23	4.98	2.84	0.33178	.	0.200469	0.25189	N	0.032471	T	0.12944	0.0314	M	0.66939	2.045	0.27478	N	0.952676	D	0.69078	0.997	P	0.48795	0.59	T	0.08973	-1.0696	10	0.66056	D	0.02	.	6.094	0.20010	0.0946:0.0:0.7202:0.1852	.	40	Q16617	NKG7_HUMAN	L	40	ENSP00000221978:S40L	ENSP00000221978:S40L	S	-	2	0	NKG7	56567483	0.069000	0.21087	0.332000	0.25469	0.175000	0.22909	0.886000	0.28241	0.702000	0.31825	-0.310000	0.09108	TCG		0.607	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		A	51875671	G	A	51875671	3	1	226	1	0	0	0	0	1	0	0	0	10443	1059	37	2	394	2	NKG7	19	51875671	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		51875671	7253312	57	15821											
ITCH	83737	broad.mit.edu	37	chr20	32981637	32981637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgacagtggatcacAacttggttcaatgggtagcc	10	12	11	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	2	1	3	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:32981637A>G	ENST00000262650.6	+	3	156	c.20A>G	c.(19-21)cAa>cGa	p.Q7R	ITCH_ENST00000374864.4_Missense_Mutation_p.Q7R|ITCH_ENST00000535650.1_5'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGGATCACAACTTGGTTCA	0.378																																						uc010geu.1																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(19-21)cAa>cGa		Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.							185	161	169					20																	32981637		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:32981637A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.20A>G	20.37:g.32981637A>G	ENSP00000262650:p.Gln7Arg					ITCH_uc002xak.2_Missense_Mutation_p.Q7R|ITCH_uc010zuj.1_5'UTR	p.Q7R	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			2	212	+			7			C2.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.20A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	3.708	-0.060113	0.07317	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	T;T	0.27402	1.67;2.08	5.07	3.94	0.45596	.	4.215730	0.00639	N	0.000513	T	0.07503	0.0189	N	0.00116	-2.08	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.55354	-0.8154	10	0.02654	T	1	.	8.0318	0.30470	0.8964:0.0:0.1035:0.0	.	7;7	Q96J02;Q5QP37	ITCH_HUMAN;.	R	7	ENSP00000363998:Q7R;ENSP00000262650:Q7R	ENSP00000262650:Q7R	Q	+	2	0	ITCH	32445298	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.129000	0.65627	0.533000	0.62120	CAA		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			G	32981637	A	G	32981637	3	3	226	1	0	0	0	0	1	0	0	0	7868	130	5	4	22	4	ITCH	20	32981637	Missense_Mutation	SNP	A	TCGA-32-1986-01A-01D-1494-08		32981637	30043883	58	15822											
RPRD1B	58490	broad.mit.edu	37	chr20	36668949	36668949	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatctgtccttgtggatgcTttttctcatgttgccaggta	6	17	10	8	0	2	0	1	0	2	0	4	2	3	1	2	2	2	3	2	2	2	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:36668949T>C	ENST00000373433.4	+	2	666	c.264T>C	c.(262-264)gcT>gcC	p.A88A		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	88	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTGGATGCTTTTTCTCATG	0.353																																						uc002xho.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(262-264)gcT>gcC		Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.							257	240	246					20																	36668949		2203	4300	6503	SO:0001819	synonymous_variant	58490							g.chr20:36668949T>C	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.264T>C	20.37:g.36668949T>C							p.A88A	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			1	666	+			88			CID.		Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	c.264T>C	CCDS13301.1																																																																																				0.353	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		C	36668949	T	C	36668949	2	2	226	1	0	0	0	0	0	0	0	1	13616	1596	56	4		4	RPRD1B	20	36668949	Silent	SNP	T	TCGA-32-1986-01A-01D-1494-08	3687312	36668949	26356571	59	15823											
HNF4A	3172	broad.mit.edu	37	chr20	43057004	43057004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgcaccccatgcccacCaccccctgcaccctcacctg	7	5	6	23	1	1	0	1	0	0	0	1	1	1	0	8	0	3	2	8	0	0	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:43057004C>T	ENST00000316099.4	+	9	1248	c.1159C>T	c.(1159-1161)Cac>Tac	p.H387Y	HNF4A_ENST00000415691.2_Missense_Mutation_p.H387Y|HNF4A_ENST00000457232.1_Missense_Mutation_p.H365Y|HNF4A_ENST00000316673.4_Missense_Mutation_p.H365Y	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	387					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGCCCACCACCCCCTGCA	0.587																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1159-1161)Cac>Tac		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							113	85	94					20																	43057004		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43057004C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1159C>T	20.37:g.43057004C>T	ENSP00000312987:p.His387Tyr					HNF4A_uc002xlu.3_Missense_Mutation_p.H365Y|HNF4A_uc002xlv.3_Missense_Mutation_p.H365Y|HNF4A_uc010ggq.3_Missense_Mutation_p.H380Y|HNF4A_uc002xlz.3_Missense_Mutation_p.H387Y	p.H387Y	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1248	+		Myeloproliferative disorder(115;0.0122)	387					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1159C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627740	0.87560	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.93	5.93	0.95920	.	0.153888	0.64402	D	0.000020	T	0.81531	0.4842	M	0.77616	2.38	0.80722	D	1	B;B;P;D;D	0.58970	0.005;0.005;0.949;0.972;0.984	B;B;B;P;P	0.53861	0.013;0.009;0.424;0.703;0.736	T	0.80346	-0.1421	10	0.41790	T	0.15	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	380;387;387;365;365	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	Y	365;365;387;417;387	ENSP00000315180:H365Y;ENSP00000396216:H365Y;ENSP00000312987:H387Y;ENSP00000412111:H387Y	ENSP00000312987:H387Y	H	+	1	0	HNF4A	42490418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.814000	0.96858	0.563000	0.77884	CAC		0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			T	43057004	C	T	43057004	3	4	226	1	0	0	0	0	1	0	0	0	7253	594	21	3	1371	3	HNF4A	20	43057004	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	6388055	43057004	19968516	60	15824											
KCNB1	3745	broad.mit.edu	37	chr20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgaactcctcgccttcccGctcccgtagggtctcggcct	4	10	9	18	5	1	0	0	0	1	0	7	1	4	0	5	2	1	2	5	2	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	158					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCGCCTTCCCGCTCCCGTAGG	0.582																																						uc002xur.1																			0		p.R158L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(472-474)Cgg>Tgg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.							173	141	152					20																	48098546		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098546G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.472C>T	20.37:g.48098546G>A	ENSP00000360806:p.Arg158Trp					KCNB1_uc002xus.1_Missense_Mutation_p.R158W	p.R158W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		0	638	-			158					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.472C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774548	0.49786	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96685	-4.09	5.15	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	D	0.97675	1.0169	10	0.87932	D	0	.	12.9275	0.58268	0.0:0.0:0.652:0.348	.	158	Q14721	KCNB1_HUMAN	W	158;113	ENSP00000360806:R158W	ENSP00000360806:R158W	R	-	1	2	KCNB1	47531953	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.892000	0.48625	1.380000	0.46344	-0.311000	0.09066	CGG		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		A	48098546	G	A	48098546	3	1	226	1	0	0	0	0	1	0	0	0	8012	1086	38	1	2112	1	KCNB1	20	48098546	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	5041542	48098546	14926974	61	15825											
C22orf23	84645	broad.mit.edu	37	chr22	38341090	38341090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggggctggagccttctgtCgtgcaggaggggcctttctt	4	11	16	10	1	2	0	0	0	2	0	3	2	2	2	2	6	2	2	2	6	0	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr22:38341090C>T	ENST00000249079.2	-	5	696	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	C22orf23_ENST00000403026.1_Missense_Mutation_p.R147Q|C22orf23_ENST00000403305.1_Missense_Mutation_p.R147Q			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	147										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AGCCTTCTGTCGTGCAGGAGG	0.562																																						uc003auj.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(439-441)cGa>cAa		Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.							149	145	146					22																	38341090		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38341090C>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.440G>A	22.37:g.38341090C>T	ENSP00000249079:p.Arg147Gln					C22orf23_uc021wpl.1_Missense_Mutation_p.R126Q	p.R147Q	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN			4	649	-	Melanoma(58;0.045)		147					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.440G>A	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555293	0.27739	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.27	-8.7	0.00851	.	0.863230	0.09848	N	0.747992	T	0.12263	0.0298	N	0.05124	-0.11	0.09310	N	1	B	0.18741	0.03	B	0.06405	0.002	T	0.27054	-1.0085	10	0.06625	T	0.88	0.4848	4.9621	0.14072	0.0952:0.2711:0.0942:0.5395	.	147	Q9BZE7	EVG1_HUMAN	Q	147	ENSP00000384667:R147Q;ENSP00000249079:R147Q;ENSP00000384618:R147Q;ENSP00000395077:R147Q	ENSP00000249079:R147Q	R	-	2	0	C22orf23	36671036	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-3.555000	0.00432	-1.501000	0.01817	0.655000	0.94253	CGA		0.562	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		T	38341090	C	T	38341090	3	4	226	1	0	0	0	0	1	0	0	0	2137	884	31	2	225	2	C22orf23	22	38341090	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		38341090	12963476	62	15826											
ACRC	93953	broad.mit.edu	37	chrX	70830624	70830624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacccaaagtggcggCgctttgccaagatccagatt	9	10	12	10	2	0	2	0	0	0	2	1	2	1	2	3	3	2	2	3	3	3	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chrX:70830624C>T	ENST00000373695.1	+	10	2242	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R569C			Q96QF7	ACRC_HUMAN	acidic repeat containing	569	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAAGTGGCGGCGCTTTGCCAA	0.517																																						uc004eae.2																			0		p.R568W(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1705-1707)Cgc>Tgc		Homo sapiens acidic repeat containing (ACRC), mRNA.							108	75	86					X																	70830624		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830624C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1705C>T	X.37:g.70830624C>T	ENSP00000362799:p.Arg569Cys					BCYRN1_uc011mpt.1_Intron	p.R569C	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			10	2206	+	Renal(35;0.156)		569					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1705C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187331	0.57909	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.36157	1.27;1.27	5.44	3.68	0.42216	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.40196	0.1107	L	0.55743	1.74	0.58432	D	0.999995	P	0.52316	0.952	P	0.49276	0.605	T	0.21143	-1.0254	9	0.87932	D	0	.	9.2225	0.37386	0.0:0.8181:0.0:0.1819	.	569	Q96QF7	ACRC_HUMAN	C	569	ENSP00000362800:R569C;ENSP00000362799:R569C	ENSP00000362799:R569C	R	+	1	0	ACRC	70747349	1.000000	0.71417	0.020000	0.16555	0.007000	0.05969	3.436000	0.52856	0.488000	0.27723	-0.287000	0.09952	CGC		0.517	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			T	70830624	C	T	70830624	3	4	226	1	0	0	0	0	1	0	0	0	171	768	27	1	1743	1	ACRC	23	70830624	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		70830624	84439936	63	15827											
INPP5B	3633	broad.mit.edu	37	chr1	38345863	38345863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcggccacctgaatttTcagctatacaaaaggatggg	11	11	10	9	1	1	1	1	1	0	0	1	2	1	2	2	3	3	1	2	3	5	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:38345863T>C	ENST00000373026.1	-	14	1675	c.1675A>G	c.(1675-1677)Aaa>Gaa	p.K559E	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.K315E|INPP5B_ENST00000373024.3_Missense_Mutation_p.K479E|INPP5B_ENST00000373023.2_Missense_Mutation_p.K559E			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	559	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTGAATTTTCAGCTATACA	0.398																																						uc001ccf.1																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(943-945)Aaa>Gaa		Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.							86	82	83					1																	38345863		1817	4082	5899	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38345863T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1675A>G	1.37:g.38345863T>C	ENSP00000362117:p.Lys559Glu					INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccg.1_Missense_Mutation_p.K479E|INPP5B_uc010oij.1_Non-coding_Transcript	p.K315E	NM_005540	NP_005531	P32019	I5P2_HUMAN			8	980	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	559					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.943A>G		.	.	.	.	.	.	.	.	.	.	T	19.42	3.823999	0.71143	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.175433	0.64402	D	0.000010	D	0.93278	0.7858	M	0.72353	2.195	0.80722	D	1	P;B	0.42296	0.775;0.233	B;B	0.41646	0.362;0.096	D	0.92028	0.5631	10	0.10902	T	0.67	.	16.2009	0.82078	0.0:0.0:0.0:1.0	.	559;479	P32019;P32019-2	I5P2_HUMAN;.	E	315;559;559;559;479	ENSP00000362118:K315E;ENSP00000362114:K559E;ENSP00000362117:K559E;ENSP00000362115:K479E	ENSP00000362114:K559E	K	-	1	0	INPP5B	38118450	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.859000	0.86982	2.235000	0.73313	0.533000	0.62120	AAA		0.398	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		C	38345863	T	C	38345863	3	2	227	1	0	0	0	0	1	0	0	0	7755	1792	62	4	1346	4	INPP5B	1	38345863	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08		38345863	210904758	1	15828											
CGN	57530	broad.mit.edu	37	chr1	151491244	151491244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttggggtccaaatcaaGggggccaatgaccaaggggc	10	7	14	10	0	1	1	1	1	0	0	3	1	3	1	4	6	0	0	4	6	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:151491244G>T	ENST00000271636.7	+	2	382	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	77	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAAATCAAGGGGGCCAATG	0.592																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(247-249)aaG>aaT		Homo sapiens cingulin (CGN), mRNA.							47	52	51					1																	151491244		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491244G>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.249G>T	1.37:g.151491244G>T	ENSP00000271636:p.Lys83Asn						p.K83N	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	393	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		77			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.249G>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387938	0.42308	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.64618	0.83;-0.11	5.06	0.9	0.19278	.	0.049251	0.85682	D	0.000000	T	0.36799	0.0980	L	0.52364	1.645	0.27113	N	0.962334	P	0.48503	0.911	B	0.43251	0.413	T	0.28554	-1.0040	10	0.87932	D	0	-43.9452	8.1366	0.31058	0.5729:0.0:0.4271:0.0	.	77	Q9P2M7	CING_HUMAN	N	83	ENSP00000410836:K83N;ENSP00000271636:K83N	ENSP00000271636:K83N	K	+	3	2	CGN	149757868	1.000000	0.71417	0.745000	0.31077	0.818000	0.46254	0.438000	0.21559	0.074000	0.16767	0.655000	0.94253	AAG		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151491244	G	T	151491244	3	4	227	1	0	0	0	0	1	0	0	0	3303	991	35	5	251	5	CGN	1	151491244	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	113145381	151491244	97759377	2	15829											
HRNR	388697	broad.mit.edu	37	chr1	152187646	152187646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcgggaagacgaaccTgagctagatccgtgtcgttc	10	8	12	11	4	0	3	0	1	0	2	3	5	1	4	3	1	3	2	3	1	4	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:152187646T>C	ENST00000368801.2	-	3	6534	c.6459A>G	c.(6457-6459)tcA>tcG	p.S2153S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2153					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACGAACCTGAGCTAGATC	0.607																																						uc001ezt.1																			0		p.S2152S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6457-6459)tcA>tcG		Homo sapiens hornerin (HRNR), mRNA.							334	378	363					1																	152187646		2199	4280	6479	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187646T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6459A>G	1.37:g.152187646T>C							p.S2153S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6535	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2153					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6459A>G	CCDS30859.1																																																																																				0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		C	152187646	T	C	152187646	2	2	227	1	0	0	0	0	0	0	0	1	7359	1567	55	4		4	HRNR	1	152187646	Silent	SNP	T	TCGA-32-1991-01A-01D-1353-08	696402	152187646	97062975	3	15830											
ABL2	27	broad.mit.edu	37	chr1	179077669	179077669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggagaaggccagccCggctgctctccatcctctgg	5	9	13	14	1	2	1	0	0	2	1	4	2	3	1	4	5	2	3	4	5	1	1	rs569106848		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:179077669C>T	ENST00000502732.1	-	12	2936	c.2733G>A	c.(2731-2733)ccG>ccA	p.P911P	ABL2_ENST00000504405.1_Silent_p.P772P|ABL2_ENST00000344730.3_Silent_p.P793P|ABL2_ENST00000512653.1_Silent_p.P896P|ABL2_ENST00000367623.4_Silent_p.P890P|ABL2_ENST00000408940.3_Silent_p.P875P|ABL2_ENST00000507173.1_Silent_p.P787P|ABL2_ENST00000511413.1_Silent_p.P808P	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	911	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAGGCCAGCCCGGCTGCTCTC	0.607			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(2731-2733)ccG>ccA		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						60	59	60					1																	179077669		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077669C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2733G>A	1.37:g.179077669C>T						ABL2_uc010pnf.2_Silent_p.P808P|ABL2_uc010png.2_Silent_p.P787P|ABL2_uc010pnh.2_Silent_p.P890P|ABL2_uc001gmg.4_Silent_p.P793P|ABL2_uc001gmi.4_Silent_p.P896P|ABL2_uc010pne.2_Silent_p.P772P	p.P911P	NM_007314	NP_009298	P42684	ABL2_HUMAN			11	3020	-			911			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.2733G>A	CCDS30947.1																																																																																				0.607	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		T	179077669	C	T	179077669	2	4	227	1	0	0	0	0	0	0	0	1	93	639	23	2		2	ABL2	1	179077669	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	26890023	179077669	70172952	4	15831											
C1orf26	54823	broad.mit.edu	37	chr1	185144110	185144110	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagctcccaggtttcattAaatgtgactaggcagaaaac	15	9	9	8	0	1	2	1	1	0	1	2	3	2	2	1	2	2	3	1	2	6	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:185144110A>G	ENST00000367500.4	+	5	996	c.831A>G	c.(829-831)ttA>ttG	p.L277L	SWT1_ENST00000367501.3_Silent_p.L277L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	277										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGGTTTCATTAAATGTGACTA	0.348																																						uc001grg.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(829-831)ttA>ttG		Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.							59	63	61					1																	185144110		2203	4300	6503	SO:0001819	synonymous_variant	54823							g.chr1:185144110A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.831A>G	1.37:g.185144110A>G						SWT1_uc001grh.4_Silent_p.L277L	p.L277L	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN			4	945	+			277					Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	c.831A>G	CCDS1367.1																																																																																				0.348	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		G	185144110	A	G	185144110	2	3	227	1	0	0	0	0	0	0	0	1	2035	359	13	4		4	C1orf26	1	185144110	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	6066441	185144110	64106511	5	15832											
CFH	3075	broad.mit.edu	37	chr1	196709801	196709801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgttgtagctcacatGtcagacagttatcagtatgg	10	13	11	7	0	3	1	3	0	0	1	3	1	3	1	0	2	1	5	0	2	3	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:196709801G>T	ENST00000367429.4	+	18	3075	c.2835G>T	c.(2833-2835)atG>atT	p.M945I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	945	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGCTCACATGTCAGACAGTT	0.353																																						uc001gtj.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2833-2835)atG>atT		Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							144	136	138					1																	196709801		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709801G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2835G>T	1.37:g.196709801G>T	ENSP00000356399:p.Met945Ile					CFH_uc021pgt.1_Intron	p.M945I	NM_000186	NP_000177	P08603	CFAH_HUMAN			17	3075	+			945			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2835G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629321	0.28978	.	.	ENSG00000000971	ENST00000367429	T	0.63417	-0.04	6.16	-6.59	0.01830	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.30854	0.0778	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14727	-1.0462	9	0.22109	T	0.4	.	1.1115	0.01705	0.3903:0.0982:0.2123:0.2992	.	945	P08603	CFAH_HUMAN	I	945	ENSP00000356399:M945I	ENSP00000356399:M945I	M	+	3	0	CFH	194976424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.137000	0.03219	-1.033000	0.03299	-0.848000	0.03037	ATG		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		T	196709801	G	T	196709801	3	4	227	1	0	0	0	0	1	0	0	0	3283	1377	48	5	2923	5	CFH	1	196709801	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	11565691	196709801	52540820	6	15833											
PTPRC	5788	broad.mit.edu	37	chr1	198703534	198703534	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttattgtcatggtcactCgatgtgaagaaggaaacagg	13	10	12	6	1	2	2	2	1	0	1	3	4	2	3	0	3	1	1	0	3	4	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:198703534C>A	ENST00000367376.2	+	22	2422	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	PTPRC_ENST00000348564.6_Silent_p.R592R|PTPRC_ENST00000442510.2_Silent_p.R753R|PTPRC_ENST00000594404.1_Silent_p.R590R|PTPRC_ENST00000352140.3_Silent_p.R703R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	751	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGGTCACTCGATGTGAAGA	0.423																																						uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2251-2253)Cga>Aga		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.							256	263	261					1																	198703534		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703534C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2251C>A	1.37:g.198703534C>A						PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc021pgy.1_Silent_p.R705R|PTPRC_uc010ppg.1_Silent_p.R687R	p.R751R	NM_002838	NP_002829	P08575	PTPRC_HUMAN			21	2431	+			751			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2251C>A																																																																																					0.423	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	198703534	C	A	198703534	2	1	227	1	0	0	0	0	0	0	0	1	12797	876	31	5		5	PTPRC	1	198703534	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	1993733	198703534	50547087	7	15834											
SOX13	9580	broad.mit.edu	37	chr1	204086257	204086259	+	In_Frame_Del	DEL	AGC	AGC	-																															ttccctctcccagattgcaaAgcagcagcagcagctgattc																										TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:204086257_204086259delAGC	ENST00000367204.1	+	6	708_710	c.599_601delAGC	c.(598-603)aagcag>aag	p.Q204del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	204	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGATTGCAAAGCAGCAGCAGCA	0.581																																						uc001ham.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(598-603)aagcag>aag		Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.																																				SO:0001651	inframe_deletion	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204086257_204086259delAGC		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.599_601delAGC	1.37:g.204086266_204086268delAGC	ENSP00000356172:p.Gln204del					SOX13_uc001hal.3_In_Frame_Del_p.Q204del|SOX13_uc010pqp.2_In_Frame_Del_p.Q204del|SOX13_uc010pqq.2_In_Frame_Del_p.Q71del	p.Q204del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1194_1196	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		204			Gln-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	In_Frame_Del	DEL	ENST00000367204.1	37	c.599_601delAGC	CCDS44299.1																																																																																				0.581	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		-	204086259	AGC	-	204086257	7	5	227	1	0	1	0	1	0	0	0	0	14944	72	3	0	617	0	SOX13	1	204086257	In_Frame_Del	DEL	AGC	TCGA-32-1991-01A-01D-1353-08	5382723	204086257	45164364	8	15835											
PIGR	5284	broad.mit.edu	37	chr1	207108974	207108974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccagcagggagaggCggccctcgtactgggcctta	6	7	14	14	2	0	1	0	0	0	1	3	2	2	1	4	4	2	3	4	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:207108974C>T	ENST00000356495.4	-	5	1418	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	412	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGGAGAGGCGGCCCTCGTA	0.637											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.3																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1234-1236)cGc>cAc		Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.							31	35	33					1																	207108974		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207108974C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1235G>A	1.37:g.207108974C>T	ENSP00000348888:p.Arg412His		OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.3_Missense_Mutation_p.R412H	p.R412H	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	1419	-			412			Ig-like V-type 4.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1235G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841510	0.91197	.	.	ENSG00000162896	ENST00000356495	T	0.10192	2.9	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.39809	0.1092	M	0.86805	2.84	0.39316	D	0.965168	D	0.89917	1.0	D	0.91635	0.999	T	0.42515	-0.9447	10	0.87932	D	0	-5.0439	16.3623	0.83273	0.0:1.0:0.0:0.0	.	412	P01833	PIGR_HUMAN	H	412	ENSP00000348888:R412H	ENSP00000348888:R412H	R	-	2	0	PIGR	205175597	0.986000	0.35501	0.961000	0.40146	0.005000	0.04900	2.018000	0.40991	2.720000	0.93068	0.655000	0.94253	CGC		0.637	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		T	207108974	C	T	207108974	3	4	227	1	0	0	0	0	1	0	0	0	11897	768	27	1	1087	1	PIGR	1	207108974	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	3022717	207108974	42141647	9	15836											
OR2M5	127059	broad.mit.edu	37	chr1	248308541	248308541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcctcttctttctggTcctggccatcttttcagtgg	3	17	7	14	0	5	0	1	0	4	0	7	0	7	0	4	3	0	0	4	3	0	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:248308541T>C	ENST00000366476.1	+	1	92	c.92T>C	c.(91-93)gTc>gCc	p.V31A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCTTTCTGGTCCTGGCCATC	0.507																																						uc010pze.2																			0		p.L30L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(91-93)gTc>gCc		Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.							223	225	224					1																	248308541		2203	4297	6500	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308541T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.92T>C	1.37:g.248308541T>C	ENSP00000355432:p.Val31Ala						p.V31A	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		0	92	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		31						Missense_Mutation	SNP	ENST00000366476.1	37	c.92T>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	11.28	1.593307	0.28357	.	.	ENSG00000162727	ENST00000366476	T	0.00575	6.46	3.28	3.28	0.37604	.	1.047600	0.07707	U	0.941472	T	0.02230	0.0069	M	0.84433	2.695	0.09310	N	1	D	0.54964	0.969	P	0.52514	0.701	T	0.46541	-0.9184	10	0.72032	D	0.01	.	11.5465	0.50696	0.0:0.0:0.0:1.0	.	31	A3KFT3	OR2M5_HUMAN	A	31	ENSP00000355432:V31A	ENSP00000355432:V31A	V	+	2	0	OR2M5	246375164	0.092000	0.21681	0.019000	0.16419	0.003000	0.03518	2.901000	0.48695	1.250000	0.43966	0.403000	0.27427	GTC		0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		C	248308541	T	C	248308541	3	2	227	1	0	0	0	0	1	0	0	0	11013	1667	58	4	94	4	OR2M5	1	248308541	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	41199567	248308541	942080	10	15837											
KCNK3	3777	broad.mit.edu	37	chr2	26950700	26950700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaaggggctgggcatgcGgcgcgccgacgtgtccatgg	7	5	18	11	5	0	1	0	0	0	1	1	2	1	1	2	5	1	2	2	5	2	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:26950700G>A	ENST00000302909.3	+	2	574	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCATGCGGCGCGCCGAC	0.652																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(448-450)cGg>cAg		Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.							71	65	67					2																	26950700		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950700G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.449G>A	2.37:g.26950700G>A	ENSP00000306275:p.Arg150Gln						p.R150Q	NM_002246	NP_002237	O14649	KCNK3_HUMAN			1	612	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.449G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376075	0.61735	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.23950	1.88	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.68952	2.095	0.45662	D	0.998581	B	0.29188	0.236	B	0.23150	0.044	T	0.04781	-1.0927	10	0.41790	T	0.15	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	150	O14649	KCNK3_HUMAN	Q	27;150	ENSP00000306275:R150Q	ENSP00000306275:R150Q	R	+	2	0	KCNK3	26804204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.757000	0.74924	2.619000	0.88677	0.561000	0.74099	CGG		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		A	26950700	G	A	26950700	3	1	227	1	0	0	0	0	1	0	0	0	8067	1116	39	2	455	2	KCNK3	2	26950700	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		26950700	216248673	11	15838											
THADA	63892	broad.mit.edu	37	chr2	43458375	43458375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgggggacgccagccGgactttgagaggagacagaa	10	5	18	8	2	0	3	0	1	0	3	0	7	0	5	2	5	1	1	2	5	1	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:43458375G>A	ENST00000405006.4	-	38	5925	c.5574C>T	c.(5572-5574)tcC>tcT	p.S1858S	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000405975.2_Silent_p.S1858S|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Silent_p.S1539S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1858										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACGCCAGCCGGACTTTGAGA	0.517																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5572-5574)tcC>tcT		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							37	39	38					2																	43458375		1938	4136	6074	SO:0001819	synonymous_variant	63892						binding	g.chr2:43458375G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5574C>T	2.37:g.43458375G>A						THADA_uc010far.3_Silent_p.S1053S|THADA_uc002rsx.4_Silent_p.S1858S|THADA_uc002rsy.4_Non-coding_Transcript	p.S1858S	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			37	5926	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1858					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.5574C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.418654	0.01136	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.08	-9.92	0.00455	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	4	.	.	.	-37.9496	5.3039	0.15793	0.1725:0.0851:0.5568:0.1856	.	.	.	.	L	1098	.	.	P	-	2	0	THADA	43311879	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.494000	0.02296	-1.365000	0.02158	-1.077000	0.02231	CCG		0.517	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43458375	G	A	43458375	2	1	227	1	0	0	0	0	0	0	0	1	15837	1103	39	2		2	THADA	2	43458375	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	16507675	43458375	199740998	12	15839											
CNTNAP5	129684	broad.mit.edu	37	chr2	125555882	125555882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggacttcgtggttgttCtgctctgcaagaatggtgag	7	13	13	8	1	3	2	1	1	2	1	4	3	3	3	0	3	2	4	0	3	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:125555882C>A	ENST00000431078.1	+	19	3563	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1067	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGTGGTTGTTCTGCTCTGCAA	0.498																																						uc010flu.3																			0		p.L1067L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3202-3204)Ctg>Atg		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							105	103	104					2																	125555882		1979	4169	6148	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555882C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3199C>A	2.37:g.125555882C>A	ENSP00000399013:p.Leu1067Met					CNTNAP5_uc002tno.3_Missense_Mutation_p.L1067M	p.L1068M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3566	+			1067			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3202C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841227	0.32513	.	.	ENSG00000155052	ENST00000431078	T	0.51574	0.7	5.92	1.95	0.26073	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.429288	0.17463	N	0.173390	T	0.59362	0.2188	M	0.80982	2.52	0.19945	N	0.999945	P	0.47106	0.89	P	0.58820	0.846	T	0.49360	-0.8948	10	0.40728	T	0.16	.	3.8417	0.08917	0.2446:0.5275:0.1088:0.1191	.	1067	Q8WYK1	CNTP5_HUMAN	M	1067	ENSP00000399013:L1067M	ENSP00000399013:L1067M	L	+	1	2	CNTNAP5	125272352	0.281000	0.24258	0.900000	0.35374	0.998000	0.95712	0.793000	0.26944	0.067000	0.16545	0.650000	0.86243	CTG		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125555882	C	A	125555882	3	1	227	1	0	0	0	0	1	0	0	0	3650	912	32	5	3273	5	CNTNAP5	2	125555882	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	82097507	125555882	117643491	13	15840											
UBR3	130507	broad.mit.edu	37	chr2	170850840	170850840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttaatgtagttttgggGcagtgccgtgacaatgttga	8	15	13	5	1	1	2	0	2	1	0	1	2	1	2	1	2	1	5	1	2	3	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:170850840G>A	ENST00000272793.5	+	26	3842	c.3792G>A	c.(3790-3792)ggG>ggA	p.G1264G	UBR3_ENST00000418381.1_Silent_p.G1264G|UBR3_ENST00000392631.1_Silent_p.G85G			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1264					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TAGTTTTGGGGCAGTGCCGTG	0.418																																						uc010zdi.2																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3790-3792)ggG>ggA		Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.							112	109	110					2																	170850840		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170850840G>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3792G>A	2.37:g.170850840G>A						UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.G85G|UBR3_uc002uft.4_Silent_p.G117G	p.G1264G	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			25	3792	+			1264					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.3792G>A		.	.	.	.	.	.	.	.	.	.	G	9.447	1.089638	0.20390	.	.	ENSG00000144357	ENST00000392632	T	0.39056	1.1	5.01	1.11	0.20524	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16364	-1.0405	7	0.49607	T	0.09	.	3.3158	0.07032	0.136:0.1165:0.5073:0.2402	.	.	.	.	D	322	ENSP00000376409:G322D	ENSP00000376409:G322D	G	+	2	0	UBR3	170559086	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.466000	0.22019	-0.083000	0.12618	-0.137000	0.14449	GGC		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170850840	G	A	170850840	2	1	227	1	0	0	0	0	0	0	0	1	16900	1190	42	3		3	UBR3	2	170850840	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	45294958	170850840	72348533	14	15841											
FAM126B	285172	broad.mit.edu	37	chr2	201853144	201853144	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttttcatggcattggcaaCctacaatgataatataagtc	13	14	7	7	0	1	1	1	1	0	0	2	1	1	1	1	2	2	3	1	2	6	7			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:201853144C>G	ENST00000418596.3	-	11	1019	c.832G>C	c.(832-834)Gtt>Ctt	p.V278L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	278						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCATTGGCAACCTACAATGAT	0.338																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.e11-1		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.							92	94	93					2																	201853144		2203	4300	6503	SO:0001630	splice_region_variant	285172					intracellular		g.chr2:201853144C>G	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.832-1G>C	2.37:g.201853144C>G						FAM126B_uc002uwu.3_Splice_Site_p.V196_splice|FAM126B_uc002uwv.3_Splice_Site_p.V278_splice	p.V278_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1020	-			278					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.832_splice	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070253	0.36566	.	.	ENSG00000155744	ENST00000418596	T	0.78246	-1.16	5.68	5.68	0.88126	.	0.146987	0.47093	D	0.000248	T	0.74680	0.3748	L	0.43152	1.355	0.80722	D	1	B;B	0.21821	0.061;0.008	B;B	0.23574	0.047;0.028	T	0.69191	-0.5210	10	0.46703	T	0.11	-13.5389	19.7908	0.96456	0.0:1.0:0.0:0.0	.	84;278	B3KUG1;Q8IXS8	.;F126B_HUMAN	L	278	ENSP00000393667:V278L	ENSP00000393667:V278L	V	-	1	0	FAM126B	201561389	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.309000	0.65774	2.686000	0.91538	0.491000	0.48974	GTT		0.338	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	Missense_Mutation	G	201853144	C	G	201853144	5	3	227	1	0	0	0	0	0	0	1	0	5430	521	18	5	768	5	FAM126B	2	201853144	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	31002304	201853144	41346229	15	15842											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841553	208841553	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaactcctcgccacAttggcagctatcttcagagc	8	11	8	14	1	3	2	1	1	2	1	5	2	4	2	2	1	4	3	2	1	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:208841553A>G	ENST00000427836.2	-	3	1857	c.1368T>C	c.(1366-1368)aaT>aaC	p.N456N	PLEKHM3_ENST00000389247.4_Silent_p.N456N|PLEKHM3_ENST00000457206.1_Silent_p.N456N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	456	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCGCCACATTGGCAGCTA	0.522																																						uc002vcl.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1366-1368)aaT>aaC		Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.							85	83	83					2																	208841553		2004	4190	6194	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208841553A>G	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1368T>C	2.37:g.208841553A>G						PLEKHM3_uc002vcm.2_Silent_p.N456N	p.N456N	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	1858	-			456			PH 2.		B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1368T>C	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	A	0.606	-0.826926	0.02734	.	.	ENSG00000178385	ENST00000447645	.	.	.	5.82	-5.64	0.02466	.	.	.	.	.	T	0.43567	0.1253	.	.	.	0.26643	N	0.972244	.	.	.	.	.	.	T	0.43686	-0.9376	4	.	.	.	.	16.5715	0.84613	0.4161:0.0:0.5839:0.0	.	.	.	.	R	208	.	.	C	-	1	0	PLEKHM3	208549798	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	-1.472000	0.02341	-1.103000	0.03019	0.533000	0.62120	TGT		0.522	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		G	208841553	A	G	208841553	2	3	227	1	0	0	0	0	0	0	0	1	12082	214	8	4		4	PLEKHM3	2	208841553	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	6988409	208841553	34357820	16	15843											
C3orf32	51066	broad.mit.edu	37	chr3	8661576	8661576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgatggtacagccacagCaataccgctcaggatagtcc	13	6	9	13	2	1	0	1	0	0	0	2	2	2	1	3	2	4	3	3	2	4	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:8661576C>A	ENST00000317371.4	-	19	2265	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F	SSUH2_ENST00000544814.1_Missense_Mutation_p.C369F|SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000341795.3_Missense_Mutation_p.C347F			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	347						cytoplasm (GO:0005737)											ACAGCCACAGCAATACCGCTC	0.507																																						uc011atg.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						c.(1105-1107)tGc>tTc		Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.							163	132	142					3																	8661576		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8661576C>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.1040G>T	3.37:g.8661576C>A	ENSP00000324551:p.Cys347Phe					C3orf32_uc003bqz.3_Missense_Mutation_p.C347F|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_Missense_Mutation_p.C296F|C3orf32_uc003bqu.3_Missense_Mutation_p.C347F|C3orf32_uc003bqv.3_Missense_Mutation_p.C296F|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.C347F	p.C369F	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN			11	1146	-			347					A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.1106G>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787962	0.49997	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.57595	0.42;0.42;0.39	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.70595	2.14	0.41034	D	0.985174	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.74665	-0.3589	10	0.87932	D	0	-15.0897	13.3568	0.60633	0.0:1.0:0.0:0.0	.	369;347	F5H2S5;Q9Y2M2	.;CC032_HUMAN	F	347;347;369	ENSP00000339150:C347F;ENSP00000324551:C347F;ENSP00000439378:C369F	ENSP00000324551:C347F	C	-	2	0	C3orf32	8636576	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	2.767000	0.47637	2.192000	0.70111	0.467000	0.42956	TGC		0.507	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		A	8661576	C	A	8661576	3	1	227	1	0	0	0	0	1	0	0	0	2222	710	25	5	25	5	C3orf32	3	8661576	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		8661576	189360854	17	15844											
PCNP	57092	broad.mit.edu	37	chr3	101304326	101304326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctccaaaaactctttcaGtagcagcagcttttaatgaa	13	13	6	9	0	2	1	1	1	1	0	3	1	3	1	1	0	5	5	1	0	5	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:101304326G>A	ENST00000265260.3	+	3	446	c.325G>A	c.(325-327)Gta>Ata	p.V109I	PCNP_ENST00000486406.1_Intron|PCNP_ENST00000296024.5_Missense_Mutation_p.V109I|PCNP_ENST00000469941.1_5'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	109					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						AACTCTTTCAGTAGCAGCAGC	0.299																																						uc003dva.3																			0				large_intestine(1)|lung(1)	2						c.(325-327)Gta>Ata		Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.							96	95	95					3																	101304326		2203	4297	6500	SO:0001583	missense	57092				cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding	g.chr3:101304326G>A		CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.325G>A	3.37:g.101304326G>A	ENSP00000265260:p.Val109Ile					PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.V109I	p.V109I	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN			2	343	+			109					B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	ENST00000265260.3	37	c.325G>A	CCDS2942.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462975	0.63513	.	.	ENSG00000081154	ENST00000265260;ENST00000296024	.	.	.	5.86	5.86	0.93980	.	0.066310	0.64402	D	0.000009	T	0.69806	0.3152	M	0.69358	2.11	0.45439	D	0.998416	P;P	0.47191	0.891;0.762	P;B	0.47299	0.543;0.445	T	0.69591	-0.5104	9	0.45353	T	0.12	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	109;109	Q8WW12-2;Q8WW12	.;PCNP_HUMAN	I	109	.	ENSP00000265260:V109I	V	+	1	0	PCNP	102787016	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.358000	0.59442	2.777000	0.95525	0.591000	0.81541	GTA		0.299	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353338.2	NM_020357		A	101304326	G	A	101304326	3	1	227	1	0	0	0	0	1	0	0	0	11589	1029	36	3	335	3	PCNP	3	101304326	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	92642750	101304326	96718104	18	15845											
DNAJC19	131118	broad.mit.edu	37	chr3	180702463	180702463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttctagtaaatctttagCttcattgattttggctgcta	9	18	6	8	0	3	1	1	1	2	0	3	1	3	1	1	1	2	4	1	1	5	10			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:180702463C>T	ENST00000382564.2	-	6	486	c.316G>A	c.(316-318)Gct>Act	p.A106T	DNAJC19_ENST00000479269.1_Missense_Mutation_p.A81T|DNAJC19_ENST00000491873.1_Missense_Mutation_p.A81T|DNAJC19_ENST00000486355.1_3'UTR	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	106	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AAATCTTTAGCTTCATTGATT	0.284																																						uc003fkt.3																			0				large_intestine(2)|lung(1)	3						c.(316-318)Gct>Act		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							55	53	54					3																	180702463		2199	4289	6488	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180702463C>T		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.316G>A	3.37:g.180702463C>T	ENSP00000372005:p.Ala106Thr					DNAJC19_uc021xhv.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhw.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	p.A106T	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		5	488	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		106			J.		B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.316G>A	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386885	0.95967	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.64438	-0.1;-0.1;-0.1	5.97	5.97	0.96955	Heat shock protein DnaJ, N-terminal (5);	0.107611	0.64402	D	0.000002	D	0.88097	0.6345	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92004	0.5613	10	0.87932	D	0	-11.0545	18.6193	0.91316	0.0:1.0:0.0:0.0	.	106	Q96DA6	TIM14_HUMAN	T	106;81;81	ENSP00000372005:A106T;ENSP00000420767:A81T;ENSP00000419191:A81T	ENSP00000372005:A106T	A	-	1	0	DNAJC19	182185157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.927000	0.70080	2.836000	0.97738	0.655000	0.94253	GCT		0.284	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		T	180702463	C	T	180702463	3	4	227	1	0	0	0	0	1	0	0	0	4638	797	28	3	38	3	DNAJC19	3	180702463	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	79398137	180702463	17319967	19	15846											
DRD5	1816	broad.mit.edu	37	chr4	9784083	9784083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctactgggccatctccAggcccttccgctacaagcgc	7	7	9	18	3	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	3	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:9784083A>T	ENST00000304374.2	+	1	826	c.430A>T	c.(430-432)Agg>Tgg	p.R144W		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	144					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCCATCTCCAGGCCCTTCCG	0.597																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(430-432)Agg>Tgg		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						38	37	37					4																	9784083		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784083A>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.430A>T	4.37:g.9784083A>T	ENSP00000306129:p.Arg144Trp						p.R144W	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	826	+			144					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.430A>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	19.23	3.788204	0.70337	.	.	ENSG00000169676	ENST00000304374	T	0.38887	1.11	4.35	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.238250	0.49305	N	0.000160	T	0.54615	0.1869	L	0.58925	1.835	0.42626	D	0.993366	D	0.65815	0.995	D	0.65684	0.937	T	0.53989	-0.8360	10	0.56958	D	0.05	.	9.4174	0.38530	0.8409:0.0:0.0:0.1591	.	144	P21918	DRD5_HUMAN	W	144	ENSP00000306129:R144W	ENSP00000306129:R144W	R	+	1	2	DRD5	9393181	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.866000	0.75506	0.669000	0.31146	0.254000	0.18369	AGG		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9784083	A	T	9784083	3	4	227	1	0	0	0	0	1	0	0	0	4760	179	7	5	432	5	DRD5	4	9784083	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08		9784083	181370193	20	15847											
SEPSECS	51091	broad.mit.edu	37	chr4	25127315	25127315	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctatcttaaacatacttaCctggctccagaaacctgtct	12	13	4	12	0	3	1	0	0	3	1	4	1	4	1	3	1	4	1	3	1	6	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:25127315C>T	ENST00000382103.2	-	10	1284		c.e10+1		SEPSECS_ENST00000515272.1_5'UTR|SEPSECS_ENST00000302922.3_Splice_Site	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase						selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AACATACTTACCTGGCTCCAG	0.388																																						uc003grg.3																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.e10+1		Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	Pyridoxal Phosphate(DB00114)						50	48	49					4																	25127315		2203	4299	6502	SO:0001630	splice_region_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25127315C>T	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1211+1G>A	4.37:g.25127315C>T						SEPSECS_uc003gri.3_Splice_Site_p.R403_splice|SEPSECS_uc003grh.3_Splice_Site_p.R325_splice	p.R404_splice	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN			10	1424	-		Breast(46;0.173)	404					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Splice_Site	SNP	ENST00000382103.2	37	c.1211_splice	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106968	0.77096	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPSECS	24736413	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	6.911000	0.75746	2.421000	0.82119	0.557000	0.71058	.		0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	Intron	T	25127315	C	T	25127315	5	4	227	1	0	0	0	0	0	0	1	0	14058	521	18	3	301	3	SEPSECS	4	25127315	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	15343232	25127315	166026961	21	15848											
CCKAR	886	broad.mit.edu	37	chr4	26491828	26491828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcgtctcattttcgagcCcgagttcacagggaggagtg	10	9	13	9	3	2	0	2	0	1	0	4	4	2	2	1	2	2	1	1	2	1	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:26491828C>A	ENST00000295589.3	-	1	256	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	21					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATTTTCGAGCCCGAGTTCACA	0.493																																						uc003gse.1																			0		p.L20L(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(61-63)gGg>gTg		Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	Ceruletide(DB00403)						121	101	108					4																	26491828		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491828C>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.62G>T	4.37:g.26491828C>A	ENSP00000295589:p.Gly21Val						p.G21V	NM_000730	NP_000721	P32238	CCKAR_HUMAN			0	215	-		Breast(46;0.0503)	21					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.62G>T	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441579	0.25900	.	.	ENSG00000163394	ENST00000295589	T	0.51817	0.69	5.27	4.41	0.53225	Cholecystokinin A receptor, N-terminal (2);	0.388616	0.22009	N	0.065896	T	0.47097	0.1427	M	0.71581	2.175	0.21527	N	0.999656	B	0.27882	0.192	B	0.30716	0.119	T	0.37686	-0.9695	10	0.28530	T	0.3	.	11.1877	0.48666	0.3549:0.6451:0.0:0.0	.	21	P32238	CCKAR_HUMAN	V	21	ENSP00000295589:G21V	ENSP00000295589:G21V	G	-	2	0	CCKAR	26100926	0.005000	0.15991	0.071000	0.20095	0.990000	0.78478	1.633000	0.37113	1.190000	0.43042	0.655000	0.94253	GGG		0.493	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			A	26491828	C	A	26491828	3	1	227	1	0	0	0	0	1	0	0	0	2880	623	22	5	1244	5	CCKAR	4	26491828	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	1364513	26491828	164662448	22	15849											
SRD5A1	6715	broad.mit.edu	37	chr5	6662995	6662995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catggagtggtgtggctatgCcctggccagctggtctgtcc	4	11	15	11	0	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:6662995C>T	ENST00000274192.5	+	4	863	c.629C>T	c.(628-630)gCc>gTc	p.A210V	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A163V	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	210					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TGTGGCTATGCCCTGGCCAGC	0.423																																						uc003jdw.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(628-630)gCc>gTc		Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	Dutasteride(DB01126)|Finasteride(DB01216)						136	128	131					5																	6662995		2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6662995C>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.629C>T	5.37:g.6662995C>T	ENSP00000274192:p.Ala210Val					SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A163V	p.A210V	NM_001047	NP_001038	P18405	S5A1_HUMAN			3	819	+			210					B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.629C>T	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762947	0.49574	.	.	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.36157	1.27;1.27	4.66	2.83	0.33086	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.107759	0.64402	D	0.000006	T	0.58807	0.2148	M	0.82823	2.61	0.80722	D	1	D;P	0.58268	0.982;0.736	P;P	0.61201	0.885;0.641	T	0.65619	-0.6124	10	0.87932	D	0	-3.0288	13.988	0.64348	0.0:0.684:0.316:0.0	.	163;210	F5GXK9;P18405	.;S5A1_HUMAN	V	210;163	ENSP00000274192:A210V;ENSP00000440186:A163V	ENSP00000274192:A210V	A	+	2	0	SRD5A1	6715995	0.998000	0.40836	0.177000	0.23020	0.027000	0.11550	3.905000	0.56333	0.466000	0.27193	0.655000	0.94253	GCC		0.423	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		T	6662995	C	T	6662995	3	4	227	1	0	0	0	0	1	0	0	0	15137	739	26	3	643	3	SRD5A1	5	6662995	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		6662995	174252265	23	15850											
ZNF622	90441	broad.mit.edu	37	chr5	16453250	16453250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctcatcaaggagcgaTgacccactctggcacctgtt	10	10	9	12	1	3	1	2	1	2	0	4	3	3	2	2	2	1	3	2	2	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:16453250T>A	ENST00000308683.2	-	5	1304	c.1178A>T	c.(1177-1179)cAt>cTt	p.H393L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	393					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAGGAGCGATGACCCACTCT	0.463																																						uc003jfq.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1177-1179)cAt>cTt		Homo sapiens zinc finger protein 622 (ZNF622), mRNA.							101	101	101					5																	16453250		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16453250T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1178A>T	5.37:g.16453250T>A	ENSP00000310042:p.His393Leu						p.H393L	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			4	1298	-			393						Missense_Mutation	SNP	ENST00000308683.2	37	c.1178A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996070	0.93167	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	5.7	0.88788	.	0.097634	0.64402	D	0.000001	T	0.73305	0.3570	H	0.94847	3.59	0.80722	D	1	P	0.45902	0.868	B	0.39876	0.312	T	0.82579	-0.0387	9	0.87932	D	0	-12.7271	15.9541	0.79871	0.0:0.0:0.0:1.0	.	393	Q969S3	ZN622_HUMAN	L	393	.	ENSP00000310042:H393L	H	-	2	0	ZNF622	16506250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.163000	0.67991	0.533000	0.62120	CAT		0.463	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		A	16453250	T	A	16453250	3	1	227	1	0	0	0	0	1	0	0	0	18043	1464	51	5	263	5	ZNF622	5	16453250	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	9790255	16453250	164462010	24	15851											
NPR3	4883	broad.mit.edu	37	chr5	32739137	32739137	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaatatggaggattacGtaagtgcctgattatgagcc	11	11	12	7	1	1	2	1	2	0	0	1	4	1	4	2	3	3	2	2	3	5	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:32739137G>A	ENST00000265074.8	+	3	1402		c.e3+1		NPR3_ENST00000415167.2_Splice_Site|NPR3_ENST00000415685.2_Splice_Site|NPR3_ENST00000434067.2_Splice_Site	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGATTACGTAAGTGCCTG	0.408																																						uc003jhv.3																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e3+1		Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	Nesiritide(DB04899)						102	100	101					5																	32739137		1894	4107	6001	SO:0001630	splice_region_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739137G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1059+1G>A	5.37:g.32739137G>A						NPR3_uc010iuo.3_Splice_Site_p.Y137_splice|NPR3_uc003jhw.2_Splice_Site_p.Y137_splice|NPR3_uc003jhu.3_Splice_Site_p.Y353_splice	p.Y353_splice	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN			3	1504	+			353					A2RRD1|B4DT84|E7EPG9	Splice_Site	SNP	ENST00000265074.8	37	c.1059_splice	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598637	0.66332	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2405	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR3	32774894	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.817000	0.86213	2.797000	0.96272	0.561000	0.74099	.		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	Intron	A	32739137	G	A	32739137	5	1	227	1	0	0	0	0	0	0	1	0	10596	1159	40	1	1070	1	NPR3	5	32739137	Splice_Site	SNP	G	TCGA-32-1991-01A-01D-1353-08	16285887	32739137	148176123	25	15852											
PIK3R1	5295	broad.mit.edu	37	chr5	67591096	67591098	+	In_Frame_Del	DEL	GAA	GAA	-																															cgagaaattgacaaacgtatGaacagcattaaaccagacct																										TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:67591096_67591098delGAA	ENST00000521381.1	+	13	2305_2307	c.1689_1691delGAA	c.(1687-1692)atgaac>atc	p.563_564MN>I	PIK3R1_ENST00000396611.1_In_Frame_Del_p.563_564MN>I|PIK3R1_ENST00000521657.1_In_Frame_Del_p.563_564MN>I|PIK3R1_ENST00000523872.1_In_Frame_Del_p.200_201MN>I|PIK3R1_ENST00000274335.5_In_Frame_Del_p.563_564MN>I|PIK3R1_ENST00000336483.5_In_Frame_Del_p.293_294MN>I|PIK3R1_ENST00000320694.8_In_Frame_Del_p.263_264MN>I	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	563					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ACAAACGTATGAACAGCATTAAA	0.374			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(4)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)	large_intestine(3)|central_nervous_system(2)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1687-1692)atgaac>atc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591096_67591098delGAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1689_1691delGAA	5.37:g.67591096_67591098delGAA	ENSP00000428056:p.Met563_Asn564delinsIle	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.3_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.3_In_Frame_Del_p.242_243MN>I|PIK3R1_uc021xzn.1_In_Frame_Del_p.200_201MN>I|PIK3R1_uc011crb.2_In_Frame_Del_p.233_234MN>I	p.563_564MN>I	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2269_2271	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	563					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1689_1691delGAA	CCDS3993.1																																																																																				0.374	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67591098	GAA	-	67591096	7	5	227	1	0	1	0	1	0	0	0	0	11918	1290	45	0	1865	0	PIK3R1	5	67591096	In_Frame_Del	DEL	GAA	TCGA-32-1991-01A-01D-1353-08	34851959	67591096	113324164	26	15853											
SH3RF2	153769	broad.mit.edu	37	chr5	145393623	145393623	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccagctgtgtgggacAggtagggaagaaacgcctgg	9	8	15	9	1	0	1	0	0	0	1	2	3	2	3	3	4	2	2	3	4	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:145393623A>T	ENST00000511217.1	+	4	1110	c.1058A>T	c.(1057-1059)cAg>cTg	p.Q353L	SH3RF2_ENST00000359120.4_Splice_Site_p.Q353L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	353					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGTGGGACAGGTAGGGAAG	0.512																																						uc003lnt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.e5+1		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							70	68	69					5																	145393623		2203	4300	6503	SO:0001630	splice_region_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393623A>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1059+1A>T	5.37:g.145393623A>T						SH3RF2_uc011dbl.1_Splice_Site_p.Q353_splice	p.Q353_splice	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1297	+			353					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1059_splice	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345544	0.61073	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.21932	1.98;1.98	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.34513	0.0900	L	0.29908	0.895	0.54753	D	0.999987	D	0.76494	0.999	D	0.78314	0.991	T	0.08576	-1.0715	10	0.59425	D	0.04	-16.6999	14.5846	0.68315	1.0:0.0:0.0:0.0	.	353	Q8TEC5	SH3R2_HUMAN	L	353	ENSP00000352028:Q353L;ENSP00000424497:Q353L	ENSP00000352028:Q353L	Q	+	2	0	SH3RF2	145373816	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	4.878000	0.63093	2.181000	0.69327	0.477000	0.44152	CAG		0.512	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	Missense_Mutation	T	145393623	A	T	145393623	5	4	227	1	0	0	0	0	0	0	1	0	14259	202	7	5	1072	5	SH3RF2	5	145393623	Splice_Site	SNP	A	TCGA-32-1991-01A-01D-1353-08	77802527	145393623	35521637	27	15854											
DCTN4	51164	broad.mit.edu	37	chr5	150133220	150133220	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaacaattggcacatCtgtgacatgacaaacacaac	18	7	6	10	0	2	2	1	2	1	0	2	2	2	2	0	1	3	1	0	1	5	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:150133220C>A	ENST00000447998.2	-	3	322		c.e3-1		DCTN4_ENST00000521093.1_Splice_Site|DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGCACATCTGTGACATGA	0.438																																						uc010jhi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.e3-1		Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.							100	92	95					5																	150133220		2203	4300	6503	SO:0001630	splice_region_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150133220C>A	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.207-1G>T	5.37:g.150133220C>A						DCTN4_uc003lsu.3_Splice_Site_p.R12_splice|DCTN4_uc003lsv.3_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice	p.R69_splice	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	309	-		Medulloblastoma(196;0.167)	69					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Splice_Site	SNP	ENST00000447998.2	37	c.207_splice	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544773	0.86022	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000518015;ENST00000521533	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCTN4	150113413	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	7.734000	0.84928	2.941000	0.99782	0.655000	0.94253	.		0.438	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1		Intron	A	150133220	C	A	150133220	5	1	227	1	0	0	0	0	0	0	1	0	4309	927	32	5	1245	5	DCTN4	5	150133220	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	4739597	150133220	30782040	28	15855											
ZFAND3	60685	broad.mit.edu	37	chr6	38084429	38084429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acggtccgaggaaaccagtcGatctaaacagaagagtcgac	15	5	11	10	4	1	2	0	0	1	2	4	6	2	3	2	2	2	0	2	2	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:38084429G>C	ENST00000287218.4	+	5	890	c.443G>C	c.(442-444)cGa>cCa	p.R148P	ZFAND3_ENST00000373391.2_Missense_Mutation_p.R126P	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	148							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GAAACCAGTCGATCTAAACAG	0.507																																						uc003onx.3																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(442-444)cGa>cCa		Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.							130	111	117					6																	38084429		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38084429G>C	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"Zinc fingers, AN1-type domain containing"	18019	protein-coding gene	gene with protein product		607455	"testis expressed sequence 27"	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.443G>C	6.37:g.38084429G>C	ENSP00000287218:p.Arg148Pro						p.R148P	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			4	858	+			148					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.443G>C	CCDS4836.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683957	0.47991	.	.	ENSG00000156639	ENST00000287218;ENST00000373391;ENST00000474522	T	0.52983	0.64	5.28	5.28	0.74379	Zinc finger, AN1-type (1);	0.377430	0.28436	N	0.015353	T	0.22898	0.0553	N	0.24115	0.695	0.50467	D	0.999876	P	0.46395	0.877	B	0.37304	0.246	T	0.03193	-1.1062	10	0.32370	T	0.25	-4.5419	19.2682	0.93998	0.0:0.0:1.0:0.0	.	148	Q9H8U3	ZFAN3_HUMAN	P	148;126;179	ENSP00000420240:R179P	ENSP00000287218:R148P	R	+	2	0	ZFAND3	38192407	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.192000	0.72069	2.615000	0.88500	0.650000	0.86243	CGA		0.507	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		C	38084429	G	C	38084429	3	2	227	1	0	0	0	0	1	0	0	0	17626	1058	37	5	461	5	ZFAND3	6	38084429	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		38084429	133030638	29	15856											
CAPN11	11131	broad.mit.edu	37	chr6	44147870	44147870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgacttcctgcttcGggtcttcaccgagaagcaca	9	10	10	12	2	2	3	1	1	1	2	4	4	3	3	2	1	3	3	2	1	1	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:44147870G>A	ENST00000398776.1	+	14	1648	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CAPN11_ENST00000542245.1_Missense_Mutation_p.R537Q	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	537	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCTGCTTCGGGTCTTCACC	0.577																																						uc003owt.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1609-1611)cGg>cAg		Homo sapiens calpain 11 (CAPN11), mRNA.							30	31	31					6																	44147870		2067	4224	6291	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44147870G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1610G>A	6.37:g.44147870G>A	ENSP00000381758:p.Arg537Gln					CAPN11_uc011dvn.2_Missense_Mutation_p.R191Q	p.R537Q	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	1648	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		537			Domain III.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1610G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338260	0.81911	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.90069	-2.61;-2.61	4.97	4.97	0.65823	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.42821	D	0.000650	D	0.96056	0.8715	H	0.95712	3.71	0.48288	D	0.999628	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97005	0.9732	10	0.87932	D	0	.	17.3983	0.87452	0.0:0.0:1.0:0.0	.	191;537	B4DT90;Q9UMQ6	.;CAN11_HUMAN	Q	537	ENSP00000381758:R537Q;ENSP00000441078:R537Q	ENSP00000381758:R537Q	R	+	2	0	CAPN11	44255848	1.000000	0.71417	0.845000	0.33349	0.212000	0.24457	7.792000	0.85828	2.605000	0.88082	0.609000	0.83330	CGG		0.577	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			A	44147870	G	A	44147870	3	1	227	1	0	0	0	0	1	0	0	0	2624	1116	39	2	1664	2	CAPN11	6	44147870	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	6063441	44147870	126967197	30	15857											
BCLAF1	9774	broad.mit.edu	37	chr6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtacccataaggtcGtctcattcctctattatttc	7	17	4	13	1	3	0	1	0	3	0	8	0	5	0	3	1	1	1	3	1	4	6	rs201790829		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(205-207)Cga>Tga		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.																																				SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599814G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.205C>T	6.37:g.136599814G>A	ENSP00000435210:p.Arg69*					BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R67*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R67*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R69*	p.R69*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	458	-	Colorectal(23;0.24)		69					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.205C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201669	0.79015	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	3.59	0.41128	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5909	16.2474	0.82450	0.0:0.0:0.7701:0.2299	.	.	.	.	X	69;67;69;69;67;67;69	.	ENSP00000229446:R67X	R	-	1	2	BCLAF1	136641507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.151000	0.58105	1.318000	0.45170	0.557000	0.71058	CGA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136599814	G	A	136599814	4	1	227	1	0	0	0	0	0	1	0	0	1383	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	92451944	136599814	34515253	31	15858											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179	143	155					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55221821	G	A	55221821	3	1	227	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		55221821	103916842	32	15859											
RNF133	168433	broad.mit.edu	37	chr7	122338474	122338474	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgagaactcccttcttaaTtaaatggaaaatttccgtgc	14	13	6	8	1	1	1	0	1	1	1	3	3	3	2	2	1	2	0	2	1	7	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:122338474T>G	ENST00000340112.2	-	1	736	c.499A>C	c.(499-501)Att>Ctt	p.I167L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	167	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCTTCTTAATTAAATGGAAA	0.423																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(499-501)Att>Ctt		Homo sapiens ring finger protein 133 (RNF133), mRNA.							116	111	113					7																	122338474		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338474T>G	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.499A>C	7.37:g.122338474T>G	ENSP00000344489:p.Ile167Leu					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.I167L	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			0	735	-			167			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.499A>C	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	6.131	0.392348	0.11638	.	.	ENSG00000188050	ENST00000340112	T	0.13196	2.61	5.62	5.62	0.85841	.	0.216575	0.33235	U	0.005139	T	0.15478	0.0373	L	0.38838	1.175	0.80722	D	1	B	0.25206	0.12	B	0.38225	0.268	T	0.06285	-1.0835	10	0.08599	T	0.76	.	15.4998	0.75687	0.0:0.0:0.0:1.0	.	167	Q8WVZ7	RN133_HUMAN	L	167	ENSP00000344489:I167L	ENSP00000344489:I167L	I	-	1	0	RNF133	122125710	0.965000	0.33210	0.994000	0.49952	0.258000	0.26162	1.464000	0.35288	2.137000	0.66172	0.459000	0.35465	ATT		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		G	122338474	T	G	122338474	3	3	227	1	0	0	0	0	1	0	0	0	13439	1493	52	5	635	5	RNF133	7	122338474	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	67116653	122338474	36800189	33	15860											
SMARCD3	6604	broad.mit.edu	37	chr7	150945617	150945617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcttttcgtggctttgCgcgcccctccggcaacttcg	2	14	11	14	5	0	0	0	0	0	0	3	0	1	0	3	2	3	4	3	2	1	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:150945617C>T	ENST00000262188.8	-	1	442	c.32G>A	c.(31-33)cGc>cAc	p.R11H	SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000356800.2_Intron|RP5-1070G24.2_ENST00000466775.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	11					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGGCTTTGCGCGCCCCTCC	0.582																																						uc003wjs.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(31-33)cGc>cAc		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.							79	76	77					7																	150945617		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150945617C>T	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.32G>A	7.37:g.150945617C>T	ENSP00000262188:p.Arg11His					SMARCD3_uc003wjt.3_Intron|SMARCD3_uc003wju.3_Intron|SMARCD3_uc011kvh.1_Missense_Mutation_p.R11H|SMARCD3_uc010lqa.1_Missense_Mutation_p.R11H	p.R11H	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	133	-			11					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.32G>A	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519121	0.85495	.	.	ENSG00000082014	ENST00000262188	T	0.51574	0.7	3.5	3.5	0.40072	.	0.102222	0.35013	U	0.003519	T	0.61211	0.2329	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.968	D;D;B	0.73380	0.964;0.98;0.375	T	0.64347	-0.6429	10	0.72032	D	0.01	-0.7532	10.8565	0.46802	0.0:1.0:0.0:0.0	.	11;11;11	B7Z4U8;B7ZA58;Q6STE5	.;.;SMRD3_HUMAN	H	11	ENSP00000262188:R11H	ENSP00000262188:R11H	R	-	2	0	SMARCD3	150576550	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.095000	0.71439	1.656000	0.50722	0.486000	0.48141	CGC		0.582	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		T	150945617	C	T	150945617	3	4	227	1	0	0	0	0	1	0	0	0	14779	768	27	1	1471	1	SMARCD3	7	150945617	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	28607143	150945617	8193046	34	15861											
DEFA4	1669	broad.mit.edu	37	chr8	6794410	6794410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatagcagcgaggagggcGataatcctcatggctggggt	11	7	16	7	2	1	1	1	0	0	1	2	4	2	2	1	5	2	2	1	5	3	2	rs61749084		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:6794410G>A	ENST00000297435.2	-	2	136	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622																																						uc003wqu.1																			1	Substitution - coding silent(1)	p.I4I(2)	skin(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(10-12)atC>atT		Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.							38	35	36					8																	6794410		2203	4300	6503	SO:0001819	synonymous_variant	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794410G>A	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"Defensins, alpha"	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.12C>T	8.37:g.6794410G>A							p.I4I	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	63	-			4					Q6EZF8	Silent	SNP	ENST00000297435.2	37	c.12C>T	CCDS5961.1																																																																																				0.622	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		A	6794410	G	A	6794410	2	1	227	1	0	0	0	0	0	0	0	1	4391	1048	37	2		2	DEFA4	8	6794410	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		6794410	139569612	35	15862											
NKX3-1	4824	broad.mit.edu	37	chr8	23538761	23538761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgggctccagctgccCacgcagtacaggtatgggta	10	7	13	11	1	0	0	0	0	0	0	1	0	1	0	2	3	4	7	2	3	4	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:23538761C>T	ENST00000380871.4	-	2	715	c.678G>A	c.(676-678)gtG>gtA	p.V226V	NKX3-1_ENST00000523261.1_Silent_p.V151V	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	226					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAGCTGCCCACGCAGTACA	0.542																																						uc011kzx.2																			0				large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(676-678)gtG>gtA		Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.							52	54	53					8																	23538761		2203	4300	6503	SO:0001819	synonymous_variant	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538761C>T		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.678G>A	8.37:g.23538761C>T						NKX3-1_uc003xdv.1_Intron	p.V226V	NM_006167	NP_006158	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	1	726	-		Prostate(55;0.114)	226					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	ENST00000380871.4	37	c.678G>A	CCDS6042.1																																																																																				0.542	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			T	23538761	C	T	23538761	2	4	227	1	0	0	0	0	0	0	0	1	10455	581	21	3		3	NKX3-1	8	23538761	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	16744351	23538761	122825261	36	15863											
PREX2	80243	broad.mit.edu	37	chr8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttaacagggagattgccGcaccagagaagaggcaatga	14	6	14	7	1	0	4	0	1	0	3	0	6	0	4	2	3	2	3	2	3	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:68989642G>A	ENST00000288368.4	+	15	1857	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	527	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGATTGCCGCACCAGAGAA	0.438																																						uc003xxv.1																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1579-1581)cGc>cAc		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.							165	147	153					8																	68989642		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68989642G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1580G>A	8.37:g.68989642G>A	ENSP00000288368:p.Arg527His					PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	p.R527H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			14	1607	+			527			DEP 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1580G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478193	0.84747	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.22743	1.94	5.58	5.58	0.84498	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.114168	0.64402	D	0.000017	T	0.30978	0.0782	N	0.16368	0.405	0.53688	D	0.999977	D;D;D	0.71674	0.998;0.997;0.993	P;P;P	0.61328	0.887;0.879;0.808	T	0.10706	-1.0618	10	0.72032	D	0.01	.	19.9198	0.97084	0.0:0.0:1.0:0.0	.	527;527;527	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	H	527	ENSP00000288368:R527H	ENSP00000288368:R527H	R	+	2	0	PREX2	69152196	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.871000	0.63042	2.787000	0.95880	0.585000	0.79938	CGC		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	68989642	G	A	68989642	3	1	227	1	0	0	0	0	1	0	0	0	12477	1087	38	1	1638	1	PREX2	8	68989642	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	45450881	68989642	77374380	37	15864											
WDYHV1	55093	broad.mit.edu	37	chr8	124442261	124442261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgagacctggagatggAcctgtgatctgggtaagaca	11	7	15	8	1	1	4	0	1	1	3	1	7	1	5	2	4	0	1	2	4	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:124442261A>G	ENST00000287387.2	+	3	347	c.222A>G	c.(220-222)ggA>ggG	p.G74G	WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000523356.1_Silent_p.G74G|WDYHV1_ENST00000523984.1_Silent_p.G14G|WDYHV1_ENST00000517609.1_3'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	74					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CTGGAGATGGACCTGTGATCT	0.378																																						uc003yqn.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(220-222)ggA>ggG		Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.							121	122	122					8																	124442261		2203	4300	6503	SO:0001819	synonymous_variant	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124442261A>G	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 32"	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.222A>G	8.37:g.124442261A>G						WDYHV1_uc011lij.1_Silent_p.G14G	p.G74G	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			2	347	+			74					B4DE68|Q9NW95	Silent	SNP	ENST00000287387.2	37	c.222A>G	CCDS6344.1																																																																																				0.378	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		G	124442261	A	G	124442261	2	3	227	1	0	0	0	0	0	0	0	1	17340	262	10	4		4	WDYHV1	8	124442261	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	55452619	124442261	21921761	38	15865											
LRRC24	441381	broad.mit.edu	37	chr8	145748578	145748578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggcaacccgcaggtcctCacccaggttggctgtgagct	7	7	13	14	1	1	1	1	1	0	0	2	1	2	1	3	4	2	6	3	4	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:145748578C>G	ENST00000529415.2	-	5	940	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	LRRC14_ENST00000528528.1_3'UTR|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.E272Q			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	275	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCAGGTCCTCACCCAGGTTG	0.682																																						uc003zdm.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(823-825)Gag>Cag		Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.							16	16	16					8																	145748578		2184	4287	6471	SO:0001583	missense	441381					integral to membrane		g.chr8:145748578C>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.823G>C	8.37:g.145748578C>G	ENSP00000434849:p.Glu275Gln					LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	p.E275Q	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	955	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		275			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000529415.2	37	c.823G>C	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500073	0.85176	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	D;D	0.82619	-1.63;-1.63	4.73	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167863	0.51477	N	0.000093	D	0.86426	0.5930	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	P;D	0.68943	0.9;0.961	D	0.84146	0.0420	10	0.28530	T	0.3	.	15.2365	0.73436	0.0:1.0:0.0:0.0	.	272;275	G3V1D8;Q50LG9	.;LRC24_HUMAN	Q	275;272	ENSP00000434849:E275Q;ENSP00000435653:E272Q	ENSP00000434849:E275Q	E	-	1	0	LRRC24	145719386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.790000	0.75115	2.462000	0.83206	0.561000	0.74099	GAG		0.682	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		G	145748578	C	G	145748578	3	3	227	1	0	0	0	0	1	0	0	0	8979	835	29	5	722	5	LRRC24	8	145748578	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	21306317	145748578	615444	39	15866											
KIAA1045	23349	broad.mit.edu	37	chr9	34971449	34971449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactgtagagggctccGtccaggaggtacaggaggag	9	6	18	8	1	0	1	0	0	0	1	2	4	2	4	2	6	1	4	2	6	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:34971449G>A	ENST00000242315.3	+	2	236	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	KIAA1045_ENST00000544237.1_Missense_Mutation_p.V52I|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	52							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAGGGCTCCGTCCAGGAGGT	0.647																																						uc003zvq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(154-156)Gtc>Atc		Homo sapiens KIAA1045 (KIAA1045), mRNA.							55	65	62					9																	34971449		2060	4195	6255	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971449G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.154G>A	9.37:g.34971449G>A	ENSP00000242315:p.Val52Ile					KIAA1045_uc003zvr.3_Missense_Mutation_p.V52I	p.V52I	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	332	+			52					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.154G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	17.76	3.469083	0.63625	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	5.8	0.92144	.	0.268407	0.34906	N	0.003600	T	0.48205	0.1487	L	0.51422	1.61	0.37582	D	0.919842	P	0.52842	0.956	B	0.40228	0.323	T	0.53486	-0.8432	9	0.30854	T	0.27	.	17.5644	0.87916	0.0:0.0:1.0:0.0	.	52	Q9UPV7	K1045_HUMAN	I	52	.	ENSP00000242315:V52I	V	+	1	0	KIAA1045	34961449	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.252000	0.43196	2.744000	0.94065	0.655000	0.94253	GTC		0.647	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		A	34971449	G	A	34971449	3	1	227	1	0	0	0	0	1	0	0	0	8207	1145	40	1	156	1	KIAA1045	9	34971449	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		34971449	106241982	40	15867											
C9orf64	84267	broad.mit.edu	37	chr9	86554575	86554575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttcaataagctccagaaGacaatcccggatcagctcaa	14	9	7	11	1	3	2	3	0	0	2	5	3	5	3	2	1	2	3	2	1	5	3	rs375078394		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:86554575G>A	ENST00000376344.3	-	4	1093	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	C9orf64_ENST00000314700.1_Missense_Mutation_p.L152F	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	293										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTCCAGAAGACAATCCCGG	0.458																																						uc004anb.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(877-879)Ctt>Ttt		Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.		G	PHE/LEU	0,4406		0,0,2203	120	121	121		877	5	1	9		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf64	NM_032307.3	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	293/342	86554575	1,13005	2203	4300	6503	SO:0001583	missense	84267							g.chr9:86554575G>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.877C>T	9.37:g.86554575G>A	ENSP00000365522:p.Leu293Phe					C9orf64_uc004anc.3_Missense_Mutation_p.L152F	p.L293F	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			3	1125	-			293					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.877C>T	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842388	0.51057	0.0	1.16E-4	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.01	5.01	0.66863	.	0.063173	0.64402	D	0.000004	T	0.60392	0.2265	L	0.48986	1.54	0.80722	D	1	P	0.51537	0.946	P	0.51945	0.685	T	0.56165	-0.8024	9	0.27785	T	0.31	-15.9626	13.0823	0.59121	0.0777:0.0:0.9223:0.0	.	293	Q5T6V5	CI064_HUMAN	F	293;152	.	ENSP00000318375:L152F	L	-	1	0	C9orf64	85744395	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.403000	0.52615	2.496000	0.84212	0.563000	0.77884	CTT		0.458	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		A	86554575	G	A	86554575	3	1	227	1	0	0	0	0	1	0	0	0	2489	942	33	3	152	3	C9orf64	9	86554575	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	51583126	86554575	54658856	41	15868											
GADD45G	10912	broad.mit.edu	37	chr9	92220750	92220750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctatcgtgggcgccggCgaggaggcgggtgcgccggg	3	4	23	11	8	0	0	0	0	0	0	1	2	0	1	2	7	1	1	2	7	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:92220750C>T	ENST00000252506.6	+	3	433	c.324C>T	c.(322-324)ggC>ggT	p.G108G	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Silent_p.G90G	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	108					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						TGGGCGCCGGCGAGGAGGCGG	0.662																																					Colon(131;320 2336 18973 23919)	uc004aqq.3																			0				lung(2)	2						c.(322-324)ggC>ggT		Homo sapiens growth arrest and DNA-damage-inducible, gamma (GADD45G), mRNA.							29	26	27					9																	92220750		2200	4297	6497	SO:0001819	synonymous_variant	10912				activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	g.chr9:92220750C>T	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"gadd-related protein, 17 kD", "growth arrest and DNA-damage-inducible gamma"	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.324C>T	9.37:g.92220750C>T							p.G108G	NM_006705	NP_006696	O95257	GA45G_HUMAN			2	434	+			108					Q5VZ87|Q9C076	Silent	SNP	ENST00000252506.6	37	c.324C>T	CCDS6686.1																																																																																				0.662	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1	NM_006705		T	92220750	C	T	92220750	2	4	227	1	0	0	0	0	0	0	0	1	6183	755	27	1		1	GADD45G	9	92220750	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	5666175	92220750	48992681	42	15869											
C9orf102	375748	broad.mit.edu	37	chr9	98728904	98728904	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatattttgaagcagttcaaGgatctaaagagcatcaagga	16	10	10	5	0	3	2	2	1	1	1	3	5	3	4	0	2	2	3	0	2	6	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:98728904G>T	ENST00000288985.7	+	14	2346	c.2041G>T	c.(2041-2043)Gga>Tga	p.G681*	ERCC6L2_ENST00000437817.1_Nonsense_Mutation_p.G492*|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	681					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AGCAGTTCAAGGATCTAAAGA	0.408																																						uc010mry.1																			0											c.(1147-1149)Gga>Tga		Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.							133	122	125					9																	98728904		2203	4300	6503	SO:0001587	stop_gained	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98728904G>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.2041G>T	9.37:g.98728904G>T	ENSP00000288985:p.Gly681*					ERCC6L2_uc004avt.4_Nonsense_Mutation_p.G681*|ERCC6L2_uc011lum.2_Nonsense_Mutation_p.G383*|ERCC6L2_uc010mrz.3_Nonsense_Mutation_p.G492*|ERCC6L2_uc004avu.3_5'UTR	p.G383*			Q5T890	RAD26_HUMAN			12	2235	+			681					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000288985.7	37	c.1147G>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869348	0.97897	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	.	.	.	5.64	5.64	0.86602	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-23.201	19.5025	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	681;492	.	ENSP00000288985:G681X	G	+	1	0	C9orf102	97768725	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.116000	0.89574	2.937000	0.99478	0.650000	0.86243	GGA		0.408	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		T	98728904	G	T	98728904	4	4	227	1	0	0	0	0	0	1	0	0	2445	1001	35	5	2095	5	C9orf102	9	98728904	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	6508154	98728904	42484527	43	15870											
DNAJC9	23234	broad.mit.edu	37	chr10	75006771	75006771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcgggaccctgcatacctgGaagcggcgggtggcgtcctc	5	6	17	13	4	0	0	0	0	0	0	2	2	1	2	3	6	3	1	3	6	2	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:75006771G>C	ENST00000372950.4	-	1	1849	c.177C>G	c.(175-177)ttC>ttG	p.F59L	DNAJC9-AS1_ENST00000513954.1_RNA|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_3'UTR|MRPS16_ENST00000479005.1_5'Flank	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	59	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TGCATACCTGGAAGCGGCGGG	0.736																																						uc001jtr.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6						c.(175-177)ttC>ttG		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.							8	8	8					10																	75006771		2107	4164	6271	SO:0001583	missense	23234				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:75006771G>C	AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"Heat shock proteins / DNAJ (HSP40)"	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.177C>G	10.37:g.75006771G>C	ENSP00000362041:p.Phe59Leu					DNAJC9_uc010qkg.2_Missense_Mutation_p.F59L|DNAJC9_uc010qkh.1_Non-coding_Transcript|DNAJC9-AS1_uc021ptm.1_5'Flank	p.F59L	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN			0	492	-	Prostate(51;0.0119)		59			J.		B2RMW6	Missense_Mutation	SNP	ENST00000372950.4	37	c.177C>G	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	g	33	5.268829	0.95429	.	.	ENSG00000213551	ENST00000372950	T	0.46063	0.88	5.48	4.56	0.56223	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.87971	2.92	0.80722	D	1	D	0.54964	0.969	P	0.57502	0.822	T	0.68236	-0.5462	10	0.87932	D	0	.	10.5341	0.44994	0.0908:0.0:0.9092:0.0	.	59	Q8WXX5	DNJC9_HUMAN	L	59	ENSP00000362041:F59L	ENSP00000362041:F59L	F	-	3	2	DNAJC9	74676777	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.985000	0.56930	1.294000	0.44707	0.586000	0.80456	TTC		0.736	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190		C	75006771	G	C	75006771	3	2	227	1	0	0	0	0	1	0	0	0	4656	1165	41	5	625	5	DNAJC9	10	75006771	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		75006771	60527976	44	15871											
PTEN	5728	broad.mit.edu	37	chr10	89717636	89717636	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttgtggtctgccagctaAaggtgaagatatattcctcc	10	13	10	8	0	1	2	0	1	1	1	3	2	3	2	3	2	2	2	3	2	5	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:89717636A>T	ENST00000371953.3	+	7	2018	c.661A>T	c.(661-663)Aag>Tag	p.K221*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	221	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.K221*(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGCCAGCTAAAGGTGAAGAT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221*(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(661-663)Aag>Tag		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							135	117	123					10																	89717636		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717636A>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.661A>T	10.37:g.89717636A>T	ENSP00000361021:p.Lys221*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.K221*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1693	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	221			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.661A>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	49	15.656331	0.99841	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	0.042454	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.264	15.9118	0.79477	1.0:0.0:0.0:0.0	.	.	.	.	X	221	.	.	K	+	1	0	PTEN	89707616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	2.162000	0.67917	0.477000	0.44152	AAG		0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717636	A	T	89717636	4	4	227	1	0	0	0	0	0	1	0	0	12738	15	1	5	687	5	PTEN	10	89717636	Nonsense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	14710865	89717636	45817111	45	15872											
SLC22A11	55867	broad.mit.edu	37	chr11	64337166	64337166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catacagtgggccggctgggGgctatgatgggtcccctgat	6	9	16	10	1	0	2	0	2	0	0	1	2	1	2	3	5	1	2	3	5	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:64337166G>A	ENST00000301891.4	+	9	1799	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	SLC22A11_ENST00000377585.3_Silent_p.G367G|SLC22A11_ENST00000377581.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	475					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCGGCTGGGGGCTATGATGG	0.612																																						uc001oai.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1423-1425)ggG>ggA		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						93	97	96					11																	64337166		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64337166G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1425G>A	11.37:g.64337166G>A						SLC22A11_uc009ypq.3_Silent_p.G367G	p.G475G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			8	1799	+			475					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.1425G>A	CCDS8074.1																																																																																				0.612	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		A	64337166	G	A	64337166	2	1	227	1	0	0	0	0	0	0	0	1	14442	1219	43	3		3	SLC22A11	11	64337166	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		64337166	70669350	46	15873											
PHLDB1	23187	broad.mit.edu	37	chr11	118521224	118521224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctggtttgtcttcgaccgGctcaagcgcaccctttccta	5	12	9	15	4	2	0	1	0	1	0	4	1	3	0	3	2	1	4	3	2	2	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:118521224G>A	ENST00000361417.2	+	21	4257	c.3846G>A	c.(3844-3846)cgG>cgA	p.R1282R	PHLDB1_ENST00000524713.1_Silent_p.R425R|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.R333R|PHLDB1_ENST00000356063.5_Silent_p.R1235R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1282	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTCGACCGGCTCAAGCGCA	0.572																																						uc001ptr.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3844-3846)cgG>cgA		Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.							122	109	113					11																	118521224		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118521224G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3846G>A	11.37:g.118521224G>A						PHLDB1_uc001pts.3_Silent_p.R1282R|PHLDB1_uc001ptt.3_Silent_p.R1235R|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.R1097R|PHLDB1_uc001ptw.2_Silent_p.R637R|PHLDB1_uc009zai.2_Silent_p.R318R|PHLDB1_uc001ptx.2_Silent_p.R318R	p.R1282R	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	20	4199	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1282			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3846G>A	CCDS8401.1																																																																																				0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		A	118521224	G	A	118521224	2	1	227	1	0	0	0	0	0	0	0	1	11851	1190	42	3		3	PHLDB1	11	118521224	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	54184058	118521224	16485292	47	15874											
VPS26B	112936	broad.mit.edu	37	chr11	134104939	134104939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacacagggcagaatgtGaagctacggtaagtgatgtc	12	9	12	8	1	0	3	0	2	0	1	2	3	1	3	1	2	3	3	1	2	5	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:134104939G>T	ENST00000281187.5	+	2	850	c.372G>T	c.(370-372)gtG>gtT	p.V124V	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.V124V	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	124					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGCAGAATGTGAAGCTACGGT	0.562																																					Colon(171;1263 1952 15904 45703 47982)	uc001qhe.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(370-372)gtG>gtT		Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.							95	81	86					11																	134104939		2201	4297	6498	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134104939G>T		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.372G>T	11.37:g.134104939G>T							p.V124V	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	1	828	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	124					Q96A55	Silent	SNP	ENST00000281187.5	37	c.372G>T	CCDS8495.1																																																																																				0.562	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		T	134104939	G	T	134104939	2	4	227	1	0	0	0	0	0	0	0	1	17195	1277	45	5		5	VPS26B	11	134104939	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	15583715	134104939	901577	48	15875											
NANOG	79923	broad.mit.edu	37	chr12	7945568	7945568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcttccttcctccatGgatctgcttattcaggacag	6	15	6	14	0	4	0	1	0	3	0	8	2	7	2	4	2	1	1	4	2	1	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:7945568G>A	ENST00000229307.4	+	2	393	c.174G>A	c.(172-174)atG>atA	p.M58I	NANOG_ENST00000526286.1_Missense_Mutation_p.M58I	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	58					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTTCCTCCATGGATCTGCTTA	0.388																																						uc009zfy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(172-174)atG>atA		Homo sapiens Nanog homeobox (NANOG), mRNA.							101	104	103					12																	7945568		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945568G>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.174G>A	12.37:g.7945568G>A	ENSP00000229307:p.Met58Ile						p.M58I	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	390	+			58					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.174G>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404063	0.25291	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.90732	-2.72;-2.72;-2.71	4.55	2.49	0.30216	.	1.486330	0.03320	N	0.191828	D	0.87541	0.6203	L	0.59436	1.845	0.09310	N	1	B	0.33022	0.394	B	0.26614	0.071	T	0.73987	-0.3809	10	0.38643	T	0.18	0.7103	6.2351	0.20758	0.1057:0.1874:0.7069:0.0	.	58	Q9H9S0	NANOG_HUMAN	I	34;58;58	ENSP00000444434:M34I;ENSP00000229307:M58I;ENSP00000435288:M58I	ENSP00000229307:M58I	M	+	3	0	NANOG	7836835	0.289000	0.24334	0.020000	0.16555	0.035000	0.12851	0.333000	0.19768	1.001000	0.39076	0.556000	0.70494	ATG		0.388	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		A	7945568	G	A	7945568	3	1	227	1	0	0	0	0	1	0	0	0	10150	1348	47	3	180	3	NANOG	12	7945568	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		7945568	125906327	49	15876											
KLRK1	22914	broad.mit.edu	37	chr12	10539553	10539553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctttgcttttgccatcGtgttgaaaaatcactcttct	9	17	5	10	1	4	1	1	1	3	0	5	1	4	1	1	0	2	2	1	0	2	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:10539553G>A	ENST00000240618.6	-	3	237	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Nonsense_Mutation_p.R33*|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	33					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTTTGCCATCGTGTTGAAAAA	0.343																																						uc009zhj.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						c.(97-99)Cga>Tga		Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.							176	163	167					12																	10539553		2203	4298	6501	SO:0001587	stop_gained	22914				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	g.chr12:10539553G>A	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.97C>T	12.37:g.10539553G>A	ENSP00000240618:p.Arg33*					AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.R33*	p.R33*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN			2	274	-			33					A8K7K5|A8K7P4|Q9NR41	Nonsense_Mutation	SNP	ENST00000240618.6	37	c.97C>T	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633901	0.67130	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	.	.	.	4.24	-0.361	0.12564	.	1.870760	0.02864	N	0.130710	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	6.7071	0.23257	0.0:0.1729:0.3367:0.4904	.	.	.	.	X	33	.	ENSP00000240618:R33X	R	-	1	2	KLRK1	10430820	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.413000	0.07123	0.107000	0.17824	0.557000	0.71058	CGA		0.343	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		A	10539553	G	A	10539553	4	1	227	1	0	0	0	0	0	1	0	0	8423	1153	40	1	577	1	KLRK1	12	10539553	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	2593985	10539553	123312342	50	15877											
GRIN2B	2904	broad.mit.edu	37	chr12	13906747	13906747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggaaataggtggtgaCgatagaaaagatgtaccagt	15	7	14	5	1	0	3	0	1	0	2	0	5	0	4	2	3	1	1	2	3	6	3	rs201377003		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:13906747C>T	ENST00000609686.1	-	3	723	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	172					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGGTGGTGACGATAGAAAAG	0.463																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(514-516)Gtc>Atc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						122	117	118					12																	13906747		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906747C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.514G>A	12.37:g.13906747C>T	ENSP00000477455:p.Val172Ile						p.V172I	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	693	-			172					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.514G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595130	0.66219	.	.	ENSG00000150086	ENST00000279593	D	0.85629	-2.01	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	L	0.39147	1.195	0.80722	D	1	P	0.50710	0.938	P	0.55391	0.775	T	0.83355	-0.0001	10	0.19590	T	0.45	.	18.5808	0.91170	0.0:1.0:0.0:0.0	.	172	Q13224	NMDE2_HUMAN	I	172	ENSP00000279593:V172I	ENSP00000279593:V172I	V	-	1	0	GRIN2B	13798014	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	6.027000	0.70881	2.373000	0.80994	0.561000	0.74099	GTC		0.463	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13906747	C	T	13906747	3	4	227	1	0	0	0	0	1	0	0	0	6780	536	19	1	3984	1	GRIN2B	12	13906747	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	3367194	13906747	119945148	51	15878											
ESPL1	9700	broad.mit.edu	37	chr12	53662559	53662559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccggtgtcatgaggagCttcaaaagagtcaactttgg	10	11	11	9	1	4	2	3	1	1	1	5	3	4	3	1	3	2	1	1	3	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:53662559C>A	ENST00000257934.4	+	2	100	c.9C>A	c.(7-9)agC>agA	p.S3R	ESPL1_ENST00000552462.1_Missense_Mutation_p.S3R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	3					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCATGAGGAGCTTCAAAAGAG	0.527																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(7-9)agC>agA		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							43	41	41					12																	53662559		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662559C>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.9C>A	12.37:g.53662559C>A	ENSP00000257934:p.Ser3Arg					ESPL1_uc001scj.2_5'UTR	p.S3R	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			1	100	+			3						Missense_Mutation	SNP	ENST00000257934.4	37	c.9C>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963211	0.53507	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.11821	2.74;2.74	5.95	4.13	0.48395	.	0.509465	0.21510	N	0.073395	T	0.15782	0.0380	M	0.62723	1.935	0.24652	N	0.993513	B	0.14438	0.01	B	0.14023	0.01	T	0.12734	-1.0536	10	0.66056	D	0.02	.	9.5396	0.39244	0.0:0.8373:0.0:0.1627	.	3	Q14674	ESPL1_HUMAN	R	3	ENSP00000257934:S3R;ENSP00000449831:S3R	ENSP00000257934:S3R	S	+	3	2	ESPL1	51948826	0.998000	0.40836	0.996000	0.52242	0.881000	0.50899	1.863000	0.39459	1.527000	0.49086	0.655000	0.94253	AGC		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53662559	C	A	53662559	3	1	227	1	0	0	0	0	1	0	0	0	5253	796	28	5	11	5	ESPL1	12	53662559	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	39755812	53662559	80189336	52	15879											
KIAA0564	23078	broad.mit.edu	37	chr13	42142433	42142433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaccagctggtaaagttCtctgaagcctgccaggatgg	10	8	12	11	1	1	1	0	1	1	0	2	3	1	2	4	3	3	3	4	3	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr13:42142433C>A	ENST00000379310.3	-	45	5686	c.5618G>T	c.(5617-5619)aGa>aTa	p.R1873I	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1873	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGGTAAAGTTCTCTGAAGCCT	0.502																																						uc001uyj.3																			0				endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5617-5619)aGa>aTa		Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.							92	93	93					13																	42142433		1903	4106	6009	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42142433C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5618G>T	13.37:g.42142433C>A	ENSP00000368612:p.Arg1873Ile						p.R1873I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	44	5688	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1873			VWFA.		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.5618G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258606	0.80246	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.15139	2.45	6.06	2.63	0.31362	von Willebrand factor, type A (2);	0.290655	0.39146	N	0.001445	T	0.29423	0.0733	M	0.71581	2.175	0.80722	D	1	P	0.50819	0.939	P	0.52267	0.694	T	0.07065	-1.0792	10	0.66056	D	0.02	.	11.4385	0.50083	0.0:0.7453:0.0:0.2547	.	1873	A3KMH1	K0564_HUMAN	I	1777;1873	ENSP00000368612:R1873I	ENSP00000251030:R1777I	R	-	2	0	KIAA0564	41040433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.727000	0.25999	0.709000	0.31976	0.655000	0.94253	AGA		0.502	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		A	42142433	C	A	42142433	3	1	227	1	0	0	0	0	1	0	0	0	8185	913	32	5	103	5	KIAA0564	13	42142433	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		42142433	73027445	53	15880											
C14orf49	161176	broad.mit.edu	37	chr14	95932331	95932331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggcatcttcgtccacGctggggtccccgatcctgtt	3	13	11	14	3	2	0	0	0	2	0	6	1	5	0	4	3	0	3	4	3	0	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr14:95932331G>A	ENST00000334258.5	-	3	578	c.564C>T	c.(562-564)agC>agT	p.S188S	SYNE3_ENST00000557275.1_Silent_p.S188S|SYNE3_ENST00000553340.1_Silent_p.S188S	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	188					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTTCGTCCACGCTGGGGTCCC	0.627																																						uc001yei.4																			0		p.P187P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(562-564)agC>agT		Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.							128	102	111					14																	95932331		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932331G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.564C>T	14.37:g.95932331G>A						C14orf49_uc010avi.3_Silent_p.S188S|C14orf49_uc001yej.1_Silent_p.S188S	p.S188S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	2	579	-		all_cancers(154;0.0937)	188					A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.564C>T	CCDS9935.1																																																																																				0.627	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95932331	G	A	95932331	2	1	227	1	0	0	0	0	0	0	0	1	1776	1078	38	1		1	C14orf49	14	95932331	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		95932331	11417209	54	15881											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30664456	30664456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaggccatagtagagcgtCctgcggcgcatggtcactgt	7	10	14	10	3	1	2	1	1	0	1	2	2	2	2	2	3	2	2	2	3	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:30664456C>T	ENST00000299847.2	-	7	870	c.417G>A	c.(415-417)agG>agA	p.R139R	CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000397827.3_Silent_p.R48R|CHRFAM7A_ENST00000401522.3_Silent_p.R48R	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	139						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGTAGAGCGTCCTGCGGCGCA	0.572																																						uc001zdt.1																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(415-417)agG>agA		Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.							58	56	56					15																	30664456		1622	3534	5156	SO:0001819	synonymous_variant	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30664456C>T	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.417G>A	15.37:g.30664456C>T						DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R	p.R139R	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	6	983	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	139					A8KAB9	Silent	SNP	ENST00000299847.2	37	c.417G>A	CCDS32184.1																																																																																				0.572	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		T	30664456	C	T	30664456	2	4	227	1	0	0	0	0	0	0	0	1	3375	854	30	3		3	CHRFAM7A	15	30664456	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08		30664456	71866936	55	15882											
RYR3	6263	broad.mit.edu	37	chr15	33952594	33952594	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctggagcccctgcagaTgatggcgctccacatccccg	6	7	12	16	2	0	2	0	1	0	1	2	3	2	3	6	2	3	2	6	2	0	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:33952594T>A	ENST00000389232.4	+	34	4662	c.4592T>A	c.(4591-4593)aTg>aAg	p.M1531K	RYR3_ENST00000415757.3_Missense_Mutation_p.M1531K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1531	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCCTGCAGATGATGGCGCTC	0.672																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4591-4593)aTg>aAg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							15	17	16					15																	33952594		2124	4257	6381	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33952594T>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4592T>A	15.37:g.33952594T>A	ENSP00000373884:p.Met1531Lys					RYR3_uc010bar.3_Missense_Mutation_p.M1531K	p.M1531K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	33	4662	+		all_lung(180;7.18e-09)	1531			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4592T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.875560	0.72180	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96856	-4.14;-4.15	4.84	4.84	0.62591	.	0.047434	0.85682	D	0.000000	D	0.95652	0.8586	M	0.80847	2.515	0.58432	D	0.999999	P;B	0.39131	0.661;0.258	B;B	0.37267	0.245;0.157	D	0.96116	0.9081	10	0.72032	D	0.01	.	14.5951	0.68400	0.0:0.0:0.0:1.0	.	1531;1531	Q15413-2;Q15413	.;RYR3_HUMAN	K	1531	ENSP00000373884:M1531K;ENSP00000399610:M1531K	ENSP00000354735:M1531K	M	+	2	0	RYR3	31739886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.820000	0.86633	2.035000	0.60131	0.533000	0.62120	ATG		0.672	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33952594	T	A	33952594	3	1	227	1	0	0	0	0	1	0	0	0	13770	1464	51	5	4726	5	RYR3	15	33952594	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	3288138	33952594	68578798	56	15883											
WDR72	256764	broad.mit.edu	37	chr15	53998128	53998128	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaaactgacttacctctAggagaaccatcaaacttgga	16	8	8	9	0	2	2	1	1	1	1	2	5	2	4	2	3	4	0	2	3	6	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:53998128A>G	ENST00000396328.1	-	10	1337	c.1098T>C	c.(1096-1098)ccT>ccC	p.P366P	WDR72_ENST00000559418.1_Silent_p.P376P|WDR72_ENST00000557913.1_Silent_p.P363P|WDR72_ENST00000360509.5_Silent_p.P366P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	366										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTTACCTCTAGGAGAACCAT	0.383																																						uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1096-1098)ccT>ccC		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							93	90	91					15																	53998128		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998128A>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1098T>C	15.37:g.53998128A>G						WDR72_uc010bfi.1_Silent_p.P366P	p.P366P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	9	1140	-			366					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1098T>C	CCDS10151.1																																																																																				0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		G	53998128	A	G	53998128	2	3	227	1	0	0	0	0	0	0	0	1	17319	407	15	4		4	WDR72	15	53998128	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	20045534	53998128	48533264	57	15884											
PCSK6	5046	broad.mit.edu	37	chr15	101972225	101972225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttggaccaaatggggtcGttgaagtaaagggcctgcgg	10	9	16	6	2	0	1	0	1	0	0	1	2	0	2	2	5	1	3	2	5	4	3	rs117473739	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:101972225G>A	ENST00000348070.1	-	4	479	c.480C>T	c.(478-480)aaC>aaT	p.N160N	PCSK6_ENST00000398181.2_Silent_p.N160N|PCSK6_ENST00000344273.2_Silent_p.N160N|PCSK6_ENST00000358417.3_Silent_p.N160N|PCSK6_ENST00000331826.7_5'Flank|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	161					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAATGGGGTCGTTGAAGTAAA	0.512													G|||	8	0.00159744	0	0	5008	,	,		17700	0.0079		0	False		,,,				2504	0					uc002bxa.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(478-480)aaC>aaT		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							85	101	96					15																	101972225		1938	4125	6063	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101972225G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.480C>T	15.37:g.101972225G>A						PCSK6_uc010bpd.3_Silent_p.N31N|PCSK6_uc002bwy.3_Silent_p.N160N|PCSK6_uc010bpe.3_Silent_p.N157N|PCSK6_uc002bxb.2_Silent_p.N160N|PCSK6_uc002bxc.1_Silent_p.N160N|PCSK6_uc002bxd.1_Silent_p.N160N|PCSK6_uc002bxe.3_Silent_p.N160N|PCSK6_uc002bxg.1_Silent_p.N160N	p.N160N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	794	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		161			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.480C>T																																																																																					0.512	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		A	101972225	G	A	101972225	2	1	227	1	0	0	0	0	0	0	0	1	11604	1136	40	1		1	PCSK6	15	101972225	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	47974097	101972225	559167	58	15885											
TSC2	7249	broad.mit.edu	37	chr16	2134267	2134267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagaagtcgctccaCgcggaggagctggttggcag	9	5	18	9	3	0	1	0	0	0	1	2	5	1	4	1	6	1	4	1	6	1	1	rs137854084		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:2134267C>A	ENST00000219476.3	+	34	4674	c.4044C>A	c.(4042-4044)caC>caA	p.H1348Q	TSC2_ENST00000382538.6_Missense_Mutation_p.H1233Q|TSC2_ENST00000439673.2_Missense_Mutation_p.H1245Q|TSC2_ENST00000568454.1_Missense_Mutation_p.H1292Q|TSC2_ENST00000401874.2_Missense_Mutation_p.H1281Q|TSC2_ENST00000353929.4_Missense_Mutation_p.H1305Q|TSC2_ENST00000350773.4_Missense_Mutation_p.H1325Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1348					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGTCGCTCCACGCGGAGGAGC	0.657			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													uc002con.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4042-4044)caC>caA		Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.							26	23	24					16																	2134267		2186	4295	6481	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134267C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4044C>A	16.37:g.2134267C>A	ENSP00000219476:p.His1348Gln					TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.H1325Q|TSC2_uc002coo.3_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.2_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.2_Missense_Mutation_p.H1233Q|TSC2_uc002cop.3_Missense_Mutation_p.H1104Q|TSC2_uc002coq.3_Missense_Mutation_p.H123Q	p.H1348Q	NM_000548	NP_000539	P49815	TSC2_HUMAN			33	4150	+		Hepatocellular(780;0.0202)	1348					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4044C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.195284	0.01594	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.88277	-2.27;-2.26;-2.36;-2.32;-2.27	4.85	-4.23	0.03789	.	0.918081	0.09297	N	0.821531	T	0.71676	0.3368	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B;B	0.34241	0.025;0.043;0.043;0.444;0.043;0.043;0.215	B;B;B;B;B;B;B	0.30943	0.024;0.052;0.052;0.122;0.052;0.052;0.03	T	0.60239	-0.7302	10	0.27785	T	0.31	-0.3367	10.6133	0.45434	0.0:0.3955:0.0:0.6045	.	1233;1245;1325;123;1304;1281;1348	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	Q	1348;1282;1305;1245;1233;1325	ENSP00000219476:H1348Q;ENSP00000248099:H1305Q;ENSP00000399232:H1245Q;ENSP00000371978:H1233Q;ENSP00000344383:H1325Q	ENSP00000219476:H1348Q	H	+	3	2	TSC2	2074268	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-4.236000	0.00268	-1.222000	0.02587	-0.300000	0.09419	CAC		0.657	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2134267	C	A	2134267	3	1	227	1	0	0	0	0	1	0	0	0	16603	535	19	5	4174	5	TSC2	16	2134267	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		2134267	88220486	59	15886											
CHD9	80205	broad.mit.edu	37	chr16	53190198	53190198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacacatcagaagatgaCtgattttgaacagttaaatc	16	11	6	8	0	1	5	1	3	0	2	3	5	2	5	1	0	2	1	1	0	5	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:53190198C>A	ENST00000398510.3	+	1	284	c.197C>A	c.(196-198)aCt>aAt	p.T66N	CHD9_ENST00000566029.1_Missense_Mutation_p.T66N|CHD9_ENST00000447540.1_Missense_Mutation_p.T66N|CHD9_ENST00000564845.1_Missense_Mutation_p.T66N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	66					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAAGATGACTGATTTTGAA	0.363																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(196-198)aCt>aAt		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							95	89	91					16																	53190198		1859	4092	5951	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190198C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.197C>A	16.37:g.53190198C>A	ENSP00000381522:p.Thr66Asn					CHD9_uc002egy.3_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.3_Missense_Mutation_p.T66N	p.T66N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			0	361	+		all_cancers(37;0.0212)	66					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.197C>A		.	.	.	.	.	.	.	.	.	.	C	10.06	1.246408	0.22796	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.63913	-0.07;-0.07	5.84	2.58	0.30949	.	0.417116	0.21864	N	0.067981	T	0.40272	0.1110	N	0.12182	0.205	0.20975	N	0.999814	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28364	-1.0046	10	0.42905	T	0.14	-2.9064	8.8215	0.35030	0.3365:0.3309:0.3326:0.0	.	66;66;66;66	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	N	66	ENSP00000396345:T66N;ENSP00000381522:T66N	ENSP00000381522:T66N	T	+	2	0	CHD9	51747699	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	0.595000	0.24029	0.758000	0.33059	0.650000	0.86243	ACT		0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		A	53190198	C	A	53190198	3	1	227	1	0	0	0	0	1	0	0	0	3332	565	20	5	199	5	CHD9	16	53190198	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	51055931	53190198	37164555	60	15887											
SLC38A7	55238	broad.mit.edu	37	chr16	58705012	58705012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagatcaccttgccgatgtCagggatgaagagcgccagca	11	7	13	10	2	2	3	2	2	0	2	2	6	2	4	3	1	3	1	3	1	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:58705012C>G	ENST00000570101.1	-	9	2051	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H	SLC38A7_ENST00000219320.4_Missense_Mutation_p.D390H|SLC38A7_ENST00000564010.1_Missense_Mutation_p.D301H|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	390					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TTGCCGATGTCAGGGATGAAG	0.667																																						uc002eod.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1168-1170)Gac>Cac		Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.							34	32	33					16																	58705012		2196	4298	6494	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58705012C>G	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1168G>C	16.37:g.58705012C>G	ENSP00000454646:p.Asp390His					SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Missense_Mutation_p.D301H	p.D390H	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN			9	1561	-			390					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1168G>C	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026859	0.93518	.	.	ENSG00000103042	ENST00000219320	T	0.02197	4.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00128	-1.2017	9	.	.	.	.	18.7738	0.91902	0.0:1.0:0.0:0.0	.	390	Q9NVC3	S38A7_HUMAN	H	390	ENSP00000219320:D390H	.	D	-	1	0	SLC38A7	57262513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.402000	0.79972	2.684000	0.91462	0.555000	0.69702	GAC		0.667	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		G	58705012	C	G	58705012	3	3	227	1	0	0	0	0	1	0	0	0	14609	826	29	5	232	5	SLC38A7	16	58705012	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	5514814	58705012	31649741	61	15888											
B3GNT9	80262	broad.mit.edu	37	chr16	67183810	67183810	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgtcgaaggcccagagCaggatgtccgcatacgcaag	10	6	14	11	4	0	1	0	0	0	1	3	3	1	2	2	2	2	3	2	2	3	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:67183810C>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Silent_p.L193L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGGCCCAGAGCAGGATGTCCG	0.642																																						uc002erg.1																			0											c.(211-213)agC>agA		Homo sapiens cDNA clone IMAGE:3530459, **** WARNING: chimeric clone ****.							33	34	34					16																	67183810		2004	4177	6181	SO:0001628	intergenic_variant	84752							g.chr16:67183810C>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183810C>A						B3GNT9_uc002erf.3_Silent_p.L193L|B3GNT9_uc021tka.1_Silent_p.L193L	p.S71R							0	692	+								Q9HA86	Silent	SNP	ENST00000219139.3	37	c.213C>A	CCDS10828.1																																																																																				0.642	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		A	67183810	C	A	67183810	1	1	227	0	1	0	0	0	0	0	0	0	1264	697	25	5		5	B3GNT9	16	67183810	IGR	SNP	C	TCGA-32-1991-01A-01D-1353-08	8478798	67183810	23170943	62	15889											
B3GNT9	80262	broad.mit.edu	37	chr16	67184087	67184087	+	IGR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcggcacttgtgcggctggTtaatgagcagtggaaaccgc	8	8	15	10	4	0	1	0	1	0	0	0	2	0	2	1	4	3	4	1	4	2	2	rs201858011		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:67184087T>G	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.N101T	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GTGCGGCTGGTTAATGAGCAG	0.672																																						uc021tka.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(301-303)aAc>aCc		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (B3GNT9), mRNA.							8	10	9					16																	67184087		1863	4028	5891	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67184087T>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67184087T>G						B3GNT9_uc002erf.3_Missense_Mutation_p.N101T|BC007896_uc002erg.1_Missense_Mutation_p.L164V	p.N101T	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN			0	302	-			101					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.302A>C	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	t	14.28	2.487031	0.44249	.	.	ENSG00000237172	ENST00000449549	T	0.33438	1.41	4.41	3.31	0.37934	.	.	.	.	.	T	0.50000	0.1590	M	0.66297	2.02	0.26345	N	0.977308	D	0.76494	0.999	D	0.70935	0.971	T	0.35871	-0.9771	9	0.87932	D	0	.	9.3217	0.37968	0.1609:0.0:0.0:0.8391	.	101	Q6UX72	B3GN9_HUMAN	T	101	ENSP00000400157:N101T	ENSP00000400157:N101T	N	-	2	0	B3GNT9	65741588	1.000000	0.71417	0.999000	0.59377	0.061000	0.15899	4.950000	0.63603	0.552000	0.29026	-0.792000	0.03331	AAC		0.672	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		G	67184087	T	G	67184087	1	3	227	0	1	0	0	0	0	0	0	0	1264	1725	60	5		5	B3GNT9	16	67184087	IGR	SNP	T	TCGA-32-1991-01A-01D-1353-08	277	67184087	23170666	63	15890											
RICH2	9912	broad.mit.edu	37	chr17	12887884	12887884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgattccacccaaggtccCctttggccagccgggggcta	7	7	11	16	2	0	0	0	0	0	0	2	1	2	0	7	4	1	1	7	4	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr17:12887884C>A	ENST00000379672.5	+	20	2276	c.1976C>A	c.(1975-1977)cCc>cAc	p.P659H	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P653H|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P659H	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	659					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCCAAGGTCCCCTTTGGCCAG	0.582																																						uc002gnr.4																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1975-1977)cCc>cAc		Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.							41	44	43					17																	12887884		1852	4096	5948	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12887884C>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1976C>A	17.37:g.12887884C>A	ENSP00000368994:p.Pro659His					ARHGAP44_uc010vvk.2_Missense_Mutation_p.P659H|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P653H|ARHGAP44_uc002gns.4_Missense_Mutation_p.P453H|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P653H|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	p.P659H	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			19	2303	+			659					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.1976C>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404214	0.83230	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T	0.28454	1.61;1.63	4.9	4.9	0.64082	.	0.063063	0.64402	D	0.000004	T	0.49133	0.1539	L	0.49778	1.585	0.46396	D	0.999022	D;D;D;D	0.89917	0.986;0.993;1.0;0.992	P;D;D;P	0.68943	0.754;0.924;0.961;0.754	T	0.51092	-0.8749	10	0.87932	D	0	.	15.5808	0.76439	0.0:1.0:0.0:0.0	.	653;117;315;659	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	H	659;315;653;117	ENSP00000368994:P659H;ENSP00000342566:P653H	ENSP00000262444:P117H	P	+	2	0	ARHGAP44	12828609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.935000	0.75886	2.267000	0.75376	0.455000	0.32223	CCC		0.582	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		A	12887884	C	A	12887884	3	1	227	1	0	0	0	0	1	0	0	0	13357	623	22	5	2054	5	RICH2	17	12887884	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		12887884	68307326	64	15891											
NEUROD2	4761	broad.mit.edu	37	chr17	37762281	37762281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagacccttgcacagaGtctgcacgtaggacactagg	11	6	12	12	2	1	2	0	0	1	2	1	4	1	3	1	2	2	3	1	2	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr17:37762281G>A	ENST00000302584.4	-	2	792	c.572C>T	c.(571-573)aCt>aTt	p.T191I		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	191					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CTTGCACAGAGTCTGCACGTA	0.622																																						uc002hry.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(571-573)aCt>aTt		Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.							30	32	31					17																	37762281		2203	4300	6503	SO:0001583	missense	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762281G>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"Basic helix-loop-helix proteins"	7763	protein-coding gene	gene with protein product		601725	"neurogenic differentiation 2"			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.572C>T	17.37:g.37762281G>A	ENSP00000306754:p.Thr191Ile					NEUROD2_uc021tws.1_Missense_Mutation_p.T191I	p.T191I	NM_006160	NP_006151	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		1	772	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		191					Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	37	c.572C>T	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645208	0.67358	.	.	ENSG00000171532	ENST00000302584	T	0.66099	-0.19	5.29	5.29	0.74685	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	U	0.000000	T	0.69620	0.3131	M	0.75777	2.31	0.80722	D	1	P	0.48162	0.906	P	0.46825	0.528	T	0.73325	-0.4018	10	0.49607	T	0.09	-13.3143	17.6966	0.88283	0.0:0.0:1.0:0.0	.	191	Q15784	NDF2_HUMAN	I	191	ENSP00000306754:T191I	ENSP00000306754:T191I	T	-	2	0	NEUROD2	35015807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.788000	0.85771	2.460000	0.83146	0.561000	0.74099	ACT		0.622	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		A	37762281	G	A	37762281	3	1	227	1	0	0	0	0	1	0	0	0	10349	1029	36	3	580	3	NEUROD2	17	37762281	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	24874397	37762281	43432929	65	15892											
ZNF516	9658	broad.mit.edu	37	chr18	74090999	74090999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgggcctgcaaggccGcgtcgcccctggaccccgca	4	4	15	18	5	0	0	0	0	0	0	1	1	0	1	6	4	1	3	6	4	1	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr18:74090999G>A	ENST00000443185.2	-	4	3388	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1024					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGCAAGGCCGCGTCGCCCCT	0.721																																						uc021ulp.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3070-3072)gCg>gTg		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.							22	26	25					18																	74090999		1921	4089	6010	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74090999G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3071C>T	18.37:g.74090999G>A	ENSP00000394757:p.Ala1024Val					ZNF516_uc002lmd.3_Non-coding_Transcript	p.A1024V	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3389	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1024						Missense_Mutation	SNP	ENST00000443185.2	37	c.3071C>T		.	.	.	.	.	.	.	.	.	.	g	7.970	0.748888	0.15710	.	.	ENSG00000101493	ENST00000443185	T	0.09817	2.94	3.82	2.94	0.34122	.	1.555390	0.04036	N	0.302271	T	0.10680	0.0261	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31081	-0.9956	9	0.46703	T	0.11	.	10.1695	0.42902	0.0948:0.0:0.9052:0.0	.	1024	Q92618	ZN516_HUMAN	V	1024	ENSP00000394757:A1024V	ENSP00000394757:A1024V	A	-	2	0	ZNF516	72219987	0.892000	0.30473	0.001000	0.08648	0.059000	0.15707	5.710000	0.68392	0.960000	0.38005	-0.436000	0.05848	GCG		0.721	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		A	74090999	G	A	74090999	3	1	227	1	0	0	0	0	1	0	0	0	17957	1087	38	1	437	1	ZNF516	18	74090999	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		74090999	3986249	66	15893											
EVI5L	115704	broad.mit.edu	37	chr19	7928493	7928493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgatgcgcgcttcttcCgccgtctggagcggccggcc	2	7	15	17	9	2	0	0	0	2	0	3	2	3	1	4	3	2	1	4	3	0	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:7928493C>A	ENST00000270530.4	+	19	2486	c.2290C>A	c.(2290-2292)Cgc>Agc	p.R764S	EVI5L_ENST00000538904.2_Missense_Mutation_p.R775S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	764					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCTTCTTCCGCCGTCTGGA	0.687																																						uc010xjz.2																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(2323-2325)Cgc>Agc		Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.							14	11	12					19																	7928493		2167	4265	6432	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7928493C>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2290C>A	19.37:g.7928493C>A	ENSP00000270530:p.Arg764Ser					EVI5L_uc002min.3_Missense_Mutation_p.R764S	p.R775S	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN			18	2370	+			764					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.2323C>A	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	6.810	0.518482	0.13005	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.07327	3.2;3.2	4.37	2.15	0.27550	.	0.188543	0.33161	N	0.005202	T	0.04137	0.0115	N	0.14661	0.345	0.29750	N	0.836428	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41324	-0.9515	10	0.07175	T	0.84	-15.7693	10.1115	0.42565	0.5512:0.4488:0.0:0.0	.	775;764	B9A6I9;Q96CN4	.;EVI5L_HUMAN	S	764;775	ENSP00000270530:R764S;ENSP00000445905:R775S	ENSP00000270530:R764S	R	+	1	0	EVI5L	7834493	0.995000	0.38212	0.814000	0.32528	0.031000	0.12232	1.039000	0.30266	0.432000	0.26286	-0.448000	0.05591	CGC		0.687	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		A	7928493	C	A	7928493	3	1	227	1	0	0	0	0	1	0	0	0	5290	652	23	5	2397	5	EVI5L	19	7928493	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		7928493	51200490	67	15894											
CILP2	148113	broad.mit.edu	37	chr19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcgaggtgccggcGtgtaccacgaggtcaaggcc	7	8	14	12	4	1	1	1	1	0	0	3	3	2	1	4	4	2	1	4	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:19654993G>A	ENST00000291495.5	+	8	1724	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CILP2_ENST00000586018.1_Missense_Mutation_p.V553M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	547						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1657-1659)Gtg>Atg		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							64	68	67					19																	19654993		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654993G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1639G>A	19.37:g.19654993G>A	ENSP00000291495:p.Val547Met					CILP2_uc002nmv.4_Missense_Mutation_p.V547M	p.V553M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	1742	+			547					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1657G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634166	0.47049	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.078660	0.52532	D	0.000075	T	0.63988	0.2558	M	0.64404	1.975	0.41635	D	0.989045	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.68743	-0.5328	10	0.72032	D	0.01	-21.0925	13.1452	0.59456	0.0:0.0:1.0:0.0	.	547;547	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	547	ENSP00000291495:V547M	ENSP00000291495:V547M	V	+	1	0	CILP2	19515993	1.000000	0.71417	0.830000	0.32933	0.769000	0.43574	4.248000	0.58760	1.662000	0.50781	0.430000	0.28490	GTG		0.622	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19654993	G	A	19654993	3	1	227	1	0	0	0	0	1	0	0	0	3430	1145	40	1	1669	1	CILP2	19	19654993	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	11726500	19654993	39473990	68	15895											
PSG3	5671	broad.mit.edu	37	chr19	43233959	43233959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggtaactgCggatgccaccatatcggtcc	8	9	13	11	2	1	1	1	1	0	0	3	2	2	2	3	4	3	1	3	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:43233959C>T	ENST00000327495.5	-	4	1143	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PSG3_ENST00000595140.1_Missense_Mutation_p.R320H	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	320	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGGTAACTGCGGATGCCACC	0.493																																						uc002oue.3																			0		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(958-960)cGc>cAc		Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.							172	155	161					19																	43233959		1511	2709	4220	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233959C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.959G>A	19.37:g.43233959C>T	ENSP00000332215:p.Arg320His					PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	p.R320H	NM_021016	NP_066296	Q16557	PSG3_HUMAN			3	1091	-		Prostate(69;0.00682)	320			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.959G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	c	6.209	0.406675	0.11754	.	.	ENSG00000221826	ENST00000327495	T	0.12672	2.66	1.36	-1.54	0.08584	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13841	0.0335	M	0.71206	2.165	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.13407	0.005;0.009	T	0.31138	-0.9954	9	0.49607	T	0.09	.	4.4009	0.11386	0.0:0.579:0.0:0.421	.	298;320	Q08266;Q16557	.;PSG3_HUMAN	H	320	ENSP00000332215:R320H	ENSP00000332215:R320H	R	-	2	0	PSG3	47925799	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.201000	0.09464	-0.448000	0.07128	0.400000	0.26472	CGC		0.493	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43233959	C	T	43233959	3	4	227	1	0	0	0	0	1	0	0	0	12656	768	27	1	339	1	PSG3	19	43233959	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	23578966	43233959	15895024	69	15896											
RUVBL2	10856	broad.mit.edu	37	chr19	49510608	49510608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggagatccagattgatCgaccagcaacagggacggtg	11	7	15	8	2	0	3	0	1	0	2	2	6	1	4	2	4	2	1	2	4	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49510608C>T	ENST00000595090.1	+	6	909	c.445C>T	c.(445-447)Cga>Tga	p.R149*	RUVBL2_ENST00000601968.1_Nonsense_Mutation_p.R104*|RUVBL2_ENST00000413176.2_Nonsense_Mutation_p.R104*	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	149					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGATTGATCGACCAGCAAC	0.587																																						uc002plr.1																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(445-447)Cga>Tga		Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.							114	123	120					19																	49510608		2098	4240	6338	SO:0001587	stop_gained	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510608C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.445C>T	19.37:g.49510608C>T	ENSP00000473172:p.Arg149*					RUVBL2_uc010yab.2_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*	p.R149*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	458	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	149					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Nonsense_Mutation	SNP	ENST00000595090.1	37	c.445C>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	C	48	13.908641	0.99769	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.4016	10.7461	0.46181	0.1897:0.8103:0.0:0.0	.	.	.	.	X	149;104	.	ENSP00000221413:R149X	R	+	1	2	RUVBL2	54202420	0.912000	0.30974	0.894000	0.35097	0.674000	0.39518	1.780000	0.38634	2.667000	0.90743	0.561000	0.74099	CGA		0.587	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			T	49510608	C	T	49510608	4	4	227	1	0	0	0	0	0	1	0	0	13753	876	31	2	467	2	RUVBL2	19	49510608	Nonsense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	6276649	49510608	9618375	70	15897											
LHB	3972	broad.mit.edu	37	chr19	49519328	49519328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggggagggtctttaGaggaagaggaggcctgagag	9	6	21	5	1	1	3	0	1	1	3	1	7	1	6	1	7	1	1	1	7	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49519328G>T	ENST00000221421.2	-	3	422	c.423C>A	c.(421-423)ctC>ctA	p.L141L	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	141					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGGGTCTTTAGAGGAAGAGGA	0.622																																						uc002plt.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(421-423)ctC>ctA		Homo sapiens luteinizing hormone beta polypeptide (LHB), mRNA.	Lutropin alfa(DB00044)|Menotropins(DB00032)						55	62	60					19																	49519328		2203	4300	6503	SO:0001819	synonymous_variant	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519328G>T		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.423C>A	19.37:g.49519328G>T							p.L141L	NM_000894	NP_000885	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	432	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	141					Q9UDI0	Silent	SNP	ENST00000221421.2	37	c.423C>A	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967875	0.02232	.	.	ENSG00000104826	ENST00000391870	.	.	.	4.71	3.64	0.41730	.	.	.	.	.	T	0.70833	0.3269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73464	-0.3974	5	0.87932	D	0	.	10.9763	0.47467	0.0:0.19:0.81:0.0	.	.	.	.	Y	156	.	ENSP00000375743:S156Y	S	-	2	0	LHB	54211140	0.988000	0.35896	0.929000	0.37066	0.029000	0.11900	1.584000	0.36589	1.064000	0.40671	0.462000	0.41574	TCT		0.622	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		T	49519328	G	T	49519328	2	4	227	1	0	0	0	0	0	0	0	1	8761	929	33	5		5	LHB	19	49519328	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	8720	49519328	9609655	71	15898											
AP2A1	160	broad.mit.edu	37	chr19	50270423	50270423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaagggcgatgggatgcgGgggctcgcggtgttcatctc	5	9	17	10	4	2	0	1	0	1	0	5	2	3	1	1	5	1	2	1	5	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:50270423G>A	ENST00000359032.5	+	1	33	c.33G>A	c.(31-33)cgG>cgA	p.R11R	AP2A1_ENST00000354293.5_Silent_p.R11R|RNU6-841P_ENST00000383872.1_RNA|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGGATGCGGGGGCTCGCGG	0.706																																						uc002ppn.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(31-33)cgG>cgA		Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.							24	27	26					19																	50270423		1856	4058	5914	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50270423G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.33G>A	19.37:g.50270423G>A						AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.R11R	p.R11R	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	0	244	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	11					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.33G>A	CCDS46148.1																																																																																				0.706	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			A	50270423	G	A	50270423	2	1	227	1	0	0	0	0	0	0	0	1	739	1219	43	3		3	AP2A1	19	50270423	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	751095	50270423	8858560	72	15899											
CEACAM18	729767	broad.mit.edu	37	chr19	51981792	51981792	+	5'Flank	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgaaggctgggagaCgagaccggcagcctctgtgc	7	5	15	14	3	1	3	0	1	1	2	1	5	1	3	4	3	2	2	4	3	1	0	rs140323408	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:51981792C>G	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.R27G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18									p.R27*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGGAGACGAGACCGGCA	0.647																																						uc002pwv.1																			1	Substitution - Nonsense(1)	p.R27*(1)	ovary(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(79-81)Cga>Gga		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.							13	16	15					19																	51981792		1944	4139	6083	SO:0001631	upstream_gene_variant	729767					integral to membrane		g.chr19:51981792C>G			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981792C>G	Exception_encountered						p.R27G	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	79	+		all_neural(266;0.0529)	27					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.79C>G		.	.	.	.	.	.	.	.	.	.	.	3.267	-0.149956	0.06585	.	.	ENSG00000213822	ENST00000451626	T	0.08102	3.13	2.51	-5.01	0.02991	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	9	0.87932	D	0	.	1.3422	0.02156	0.2541:0.3772:0.2242:0.1444	.	27	A8MTB9	CEA18_HUMAN	G	27	ENSP00000402203:R27G	ENSP00000402203:R27G	R	+	1	2	CEACAM18	56673604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.690000	0.05138	-0.948000	0.03668	-2.366000	0.00237	CGA		0.647	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			G	51981792	C	G	51981792	1	3	227	0	1	0	0	0	0	0	0	0	3189	528	19	5		5	CEACAM18	19	51981792	5'Flank	SNP	C	TCGA-32-1991-01A-01D-1353-08	1711369	51981792	7147191	73	15900											
PRKCG	5582	broad.mit.edu	37	chr19	54395012	54395012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcatcccagaccctcGgaacctgacgaaacagaaga	15	4	9	13	2	1	4	1	1	0	3	3	7	2	5	3	1	3	1	3	1	4	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:54395012G>A	ENST00000263431.3	+	6	896	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PRKCG_ENST00000536044.1_Missense_Mutation_p.R205Q|PRKCG_ENST00000540413.1_Missense_Mutation_p.R205Q|PRKCG_ENST00000542049.1_Missense_Mutation_p.R92Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	205	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.R205Q(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCAGACCCTCGGAACCTGACG	0.532																																						uc002qcq.1																			1	Substitution - Missense(1)	p.R205Q(1)	large_intestine(1)	large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(613-615)cGg>cAg		Homo sapiens protein kinase C, gamma (PRKCG), mRNA.							144	121	129					19																	54395012		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395012G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.614G>A	19.37:g.54395012G>A	ENSP00000263431:p.Arg205Gln					PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q|Mir_324_uc021vbc.1_5'Flank	p.R205Q	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	5	896	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		205			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.614G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.25	3.08	0.35506	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.22666	0.0547	N	0.25647	0.755	0.30652	N	0.755333	P;B;B;B;B	0.39181	0.663;0.008;0.091;0.01;0.003	B;B;B;B;B	0.19391	0.025;0.003;0.014;0.006;0.003	T	0.17715	-1.0360	9	0.52906	T	0.07	.	7.8663	0.29539	0.2622:0.0:0.7378:0.0	.	92;205;205;205;205	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	Q	205;205;205;92	ENSP00000440541:R205Q;ENSP00000443493:R205Q;ENSP00000263431:R205Q;ENSP00000438090:R92Q	ENSP00000263431:R205Q	R	+	2	0	PRKCG	59086824	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.870000	0.69620	1.364000	0.46038	-0.258000	0.10820	CGG		0.532	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54395012	G	A	54395012	3	1	227	1	0	0	0	0	1	0	0	0	12512	1116	39	2	636	2	PRKCG	19	54395012	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	2413220	54395012	4733971	74	15901											
NLRP2	55655	broad.mit.edu	37	chr19	55494705	55494705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtagaaagactcaggAaccccgacctgatccaagca	14	4	10	13	2	1	3	1	1	0	2	2	6	2	5	5	2	2	2	5	2	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:55494705A>T	ENST00000543010.1	+	6	1782	c.1639A>T	c.(1639-1641)Aac>Tac	p.N547Y	NLRP2_ENST00000538819.1_Missense_Mutation_p.N523Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.N524Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.N544Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.N525Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.N525Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.N523Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.N547Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	547					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAGACTCAGGAACCCCGACCT	0.567																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1639-1641)Aac>Tac		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.							86	80	82					19																	55494705		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494705A>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1639A>T	19.37:g.55494705A>T	ENSP00000445135:p.Asn547Tyr					NLRP2_uc010yfp.2_Missense_Mutation_p.N524Y|NLRP2_uc002qij.3_Missense_Mutation_p.N547Y|NLRP2_uc010esp.3_Missense_Mutation_p.N525Y|NLRP2_uc010esn.3_Missense_Mutation_p.N523Y|NLRP2_uc010eso.3_Missense_Mutation_p.N544Y	p.N547Y	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	5	1750	+			547					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1639A>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249642	0.39797	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75367	-0.89;-0.83;-0.83;-0.89;-0.83;-0.93;-0.83;-0.88	1.79	1.79	0.24919	.	0.000000	0.36338	N	0.002652	T	0.79203	0.4406	L	0.60455	1.87	0.26162	N	0.979981	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.984;0.998;0.994;0.998;0.994	T	0.65882	-0.6060	10	0.52906	T	0.07	.	5.6681	0.17707	1.0:0.0:0.0:0.0	.	524;525;544;523;547	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Y	547;523;525;547;525;524;523;544	ENSP00000445135:N547Y;ENSP00000375601:N523Y;ENSP00000344074:N525Y;ENSP00000409370:N547Y;ENSP00000440601:N525Y;ENSP00000402474:N524Y;ENSP00000441133:N523Y;ENSP00000263437:N544Y	ENSP00000263437:N544Y	N	+	1	0	NLRP2	60186517	0.001000	0.12720	0.109000	0.21407	0.058000	0.15608	0.737000	0.26144	1.096000	0.41439	0.459000	0.35465	AAC		0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55494705	A	T	55494705	3	4	227	1	0	0	0	0	1	0	0	0	10477	246	9	5	1657	5	NLRP2	19	55494705	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	1099693	55494705	3634278	75	15902											
CEBPB	1051	broad.mit.edu	37	chr20	48807614	48807614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcatgtctccccctgcCgccgccgccgcctgccttta	3	8	8	22	4	1	0	0	0	1	0	2	0	1	0	9	0	3	1	9	0	1	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr20:48807614C>T	ENST00000303004.3	+	1	239	c.44C>T	c.(43-45)cCg>cTg	p.P15L		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	15	Required for Lys-174 sumoylation.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTCCCCCTGCCGCCGCCGCCG	0.726																																						uc002xvi.2																			0				NS(1)|lung(1)	2						c.(43-45)cCg>cTg		Homo sapiens CCAAT/enhancer binding protein (C/EBP), beta (CEBPB), mRNA.							6	8	7					20																	48807614		1712	3460	5172	SO:0001583	missense	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807614C>T	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"basic leucine zipper proteins"	1834	protein-coding gene	gene with protein product	"liver-enriched transcriptional activator protein", "nuclear factor of interleukin 6", "interleukin 6-dependent DNA-binding protein"	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.44C>T	20.37:g.48807614C>T	ENSP00000305422:p.Pro15Leu						p.P15L	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		0	495	+			15			Required for Lys-174 sumoylation.		A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	c.44C>T	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	C	1.312	-0.601808	0.03744	.	.	ENSG00000172216	ENST00000303004	T	0.37058	1.22	.	.	.	.	0.182268	0.23704	U	0.045385	T	0.24236	0.0587	N	0.14661	0.345	0.40358	D	0.97921	D	0.58620	0.983	P	0.53450	0.726	T	0.17228	-1.0376	8	0.02654	T	1	-11.516	.	.	.	.	15	P17676	CEBPB_HUMAN	L	15	ENSP00000305422:P15L	ENSP00000305422:P15L	P	+	2	0	CEBPB	48241021	0.998000	0.40836	0.996000	0.52242	0.923000	0.55619	0.385000	0.20685	0.119000	0.18210	0.121000	0.15741	CCG		0.726	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		T	48807614	C	T	48807614	3	4	227	1	0	0	0	0	1	0	0	0	3200	652	23	2	46	2	CEBPB	20	48807614	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		48807614	14217906	76	15903											
HIRA	7290	broad.mit.edu	37	chr22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggatgctgttaaagaatgCcgtggagaagtccctgtcat	10	10	14	7	1	1	2	1	0	0	2	2	4	2	3	2	3	2	2	2	3	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000546308.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	477	Interaction with ASF1A.|Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488																																						uc002zpf.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1429-1431)Gca>Aca		Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.							80	92	88					22																	19365576		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365576C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1429G>A	22.37:g.19365576C>T	ENSP00000263208:p.Ala477Thr					HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.2_Missense_Mutation_p.A433T|HIRA_uc010grp.3_Non-coding_Transcript	p.A477T	NM_003325	NP_003316	P54198	HIRA_HUMAN			13	1649	-	Colorectal(54;0.0993)		477			Interaction with ASF1A.|Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1429G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030001	0.93575	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.4;-0.64;-0.48;-0.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.29908	0.895	0.80722	D	1	D;D;P	0.67145	0.974;0.996;0.956	P;D;P	0.79784	0.647;0.993;0.549	T	0.69228	-0.5200	10	0.16896	T	0.51	-16.2298	19.1181	0.93350	0.0:1.0:0.0:0.0	.	433;477;477	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	T	477;477;433;433	ENSP00000345350:A477T;ENSP00000263208:A477T;ENSP00000446073:A433T;ENSP00000441870:A433T	ENSP00000263208:A477T	A	-	1	0	HIRA	17745576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.297000	0.72757	2.756000	0.94617	0.655000	0.94253	GCA		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		T	19365576	C	T	19365576	3	4	227	1	0	0	0	0	1	0	0	0	7120	739	26	3	1672	3	HIRA	22	19365576	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		19365576	31938990	77	15904											
DDX3X	1654	broad.mit.edu	37	chrX	41204796	41204796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttgacctcctaaatgCaacaggtaacattatgaatt	13	13	6	9	0	1	2	0	2	1	0	2	2	2	2	2	1	4	3	2	1	6	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:41204796C>A	ENST00000399959.2	+	12	2165	c.1310C>A	c.(1309-1311)gCa>gAa	p.A437E	DDX3X_ENST00000457138.2_Missense_Mutation_p.A421E|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	437	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTCCTAAATGCAACAGGTAAC	0.418										HNSCC(61;0.18)																												uc004dfe.3																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1309-1311)gCa>gAa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.							84	76	78					X																	41204796		2010	4175	6185	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41204796C>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1310C>A	X.37:g.41204796C>A	ENSP00000382840:p.Ala437Glu	HNSCC(61;0.18)				DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.A437E|DDX3X_uc011mkq.2_Missense_Mutation_p.A421E|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	p.A437E	NM_001356	NP_001347	O00571	DDX3X_HUMAN			11	2165	+			437			Helicase C-terminal.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1310C>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.072446	0.76415	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.04275	3.66;3.66	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.02494	0.0076	N	0.01656	-0.775	0.80722	D	1	B;P;B	0.34562	0.004;0.457;0.312	B;B;B	0.28385	0.004;0.089;0.089	T	0.59941	-0.7359	10	0.66056	D	0.02	-15.493	18.0725	0.89415	0.0:1.0:0.0:0.0	.	421;449;437	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	E	437;421	ENSP00000382840:A437E;ENSP00000392494:A421E	ENSP00000382840:A437E	A	+	2	0	DDX3X	41089740	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.718000	0.84743	2.203000	0.70933	0.522000	0.50473	GCA		0.418	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		A	41204796	C	A	41204796	3	1	227	1	0	0	0	0	1	0	0	0	4358	710	25	5	1356	5	DDX3X	23	41204796	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		41204796	114065764	78	15905											
AKAP4	8852	broad.mit.edu	37	chrX	49957173	49957173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgaaattgggcttatttgCcgaggctgcttgttcttcca	6	15	10	10	1	1	1	0	1	1	0	2	2	2	1	3	2	2	4	3	2	2	6			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:49957173C>T	ENST00000376056.2	-	5	2314	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	AKAP4_ENST00000358526.2_Missense_Mutation_p.A731T|AKAP4_ENST00000376064.3_Missense_Mutation_p.A722T|AKAP4_ENST00000376058.2_Missense_Mutation_p.A348T|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCTTATTTGCCGAGGCTGCT	0.448																																						uc004dow.1																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2191-2193)Gca>Aca		Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.							97	69	78					X																	49957173		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957173C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2164G>A	X.37:g.49957173C>T	ENSP00000365224:p.Ala722Thr					AKAP4_uc004dou.1_Missense_Mutation_p.A722T|AKAP4_uc004dov.1_Missense_Mutation_p.A348T|AKAP4_uc010njp.1_Missense_Mutation_p.A553T	p.A731T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN			4	2315	-	Ovarian(276;0.236)		731						Missense_Mutation	SNP	ENST00000376056.2	37	c.2191G>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430732	0.25726	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.82	-0.465	0.12157	A-kinase anchor 110kDa, C-terminal (1);	1.100810	0.06976	N	0.818945	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.002;0.006	T	0.45116	-0.9283	9	.	.	.	-0.0117	3.3493	0.07146	0.3011:0.4165:0.0:0.2824	.	731;348	Q5JQC9;A6ND82	AKAP4_HUMAN;.	T	722;348;731;722	ENSP00000365224:A722T;ENSP00000365226:A348T;ENSP00000351327:A731T;ENSP00000365232:A722T	.	A	-	1	0	AKAP4	49843913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.712000	0.05013	-0.276000	0.09206	-0.295000	0.09555	GCA		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		T	49957173	C	T	49957173	3	4	227	1	0	0	0	0	1	0	0	0	453	739	26	3	381	3	AKAP4	23	49957173	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	8752377	49957173	105313387	79	15906											
RGAG1	57529	broad.mit.edu	37	chrX	109694254	109694254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtccacttcagagtatgggGtaatgtccccagggatgatg	9	11	13	8	0	1	2	1	1	0	1	3	3	3	3	3	3	0	2	3	3	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:109694254G>A	ENST00000465301.2	+	3	655	c.409G>A	c.(409-411)Gta>Ata	p.V137I	RGAG1_ENST00000540313.1_Missense_Mutation_p.V137I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	137										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGTATGGGGTAATGTCCCC	0.502																																						uc004eor.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(409-411)Gta>Ata		Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.							126	105	112					X																	109694254		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694254G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.409G>A	X.37:g.109694254G>A	ENSP00000419786:p.Val137Ile					RGAG1_uc011msr.1_Missense_Mutation_p.V137I	p.V137I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			2	655	+			137					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.409G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199742	0.22121	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.52057	0.68;0.68	4.02	0.169	0.15017	.	0.338447	0.16756	N	0.200825	T	0.22936	0.0554	N	0.14661	0.345	0.20307	N	0.999912	B	0.18166	0.026	B	0.16289	0.015	T	0.13926	-1.0491	9	.	.	.	-1.337	4.4063	0.11411	0.0:0.1171:0.4155:0.4674	.	137	Q8NET4	RGAG1_HUMAN	I	137	ENSP00000419786:V137I;ENSP00000441452:V137I	.	V	+	1	0	RGAG1	109580910	0.997000	0.39634	0.839000	0.33178	0.720000	0.41350	1.098000	0.31000	-0.063000	0.13065	-0.328000	0.08392	GTA		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109694254	G	A	109694254	3	1	227	1	0	0	0	0	1	0	0	0	13274	1261	44	3	411	3	RGAG1	23	109694254	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	59737081	109694254	45576306	80	15907											
MAGEA11	4110	broad.mit.edu	37	chrX	148794878	148794878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgccagcatcaagaggaAgaagaagagggaggactcag	15	3	14	9	0	2	4	2	0	0	4	2	7	2	7	2	3	2	1	2	3	4	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:148794878A>C	ENST00000355220.5	+	2	161	c.59A>C	c.(58-60)aAg>aCg	p.K20T	MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	20						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCAAGAGGAAGAAGAAGAGG	0.572																																						uc004fdq.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(58-60)aAg>aCg		Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.							126	97	107					X																	148794878		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148794878A>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.59A>C	X.37:g.148794878A>C	ENSP00000347358:p.Lys20Thr					MAGEA11_uc004fdr.3_Intron	p.K20T	NM_005366	NP_005357	P43364	MAGAB_HUMAN			1	214	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		20					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.59A>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.752	0.139755	0.09083	.	.	ENSG00000185247	ENST00000355220	T	0.02395	4.31	0.947	-1.89	0.07689	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	P	0.41232	0.743	B	0.23150	0.044	T	0.47446	-0.9117	9	0.72032	D	0.01	.	4.1303	0.10146	0.5429:0.0:0.4571:0.0	.	20	P43364	MAGAB_HUMAN	T	20	ENSP00000347358:K20T	ENSP00000347358:K20T	K	+	2	0	MAGEA11	148579527	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-1.052000	0.03503	-0.712000	0.04988	-0.590000	0.04114	AAG		0.572	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		C	148794878	A	C	148794878	3	2	227	1	0	0	0	0	1	0	0	0	9165	72	3	5	74	5	MAGEA11	23	148794878	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	39100624	148794878	6475682	81	15908											
CCDC27	148870	broad.mit.edu	37	chr1	3684010	3684010	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagagctcccagtccaggGtatgcccagcccttcctcct	6	9	10	16	0	0	1	0	0	0	1	4	2	4	1	6	2	3	2	6	2	1	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:3684010G>A	ENST00000294600.2	+	10	1827		c.e10+1			NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27											breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGTCCAGGGTATGCCCAGC	0.647																																						uc001akv.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.e10+1		Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.							32	26	28					1																	3684010		2203	4298	6501	SO:0001630	splice_region_variant	148870							g.chr1:3684010G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1743+1G>A	1.37:g.3684010G>A							p.R581_splice	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1824	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	581					Q5TBV3|Q96M50	Splice_Site	SNP	ENST00000294600.2	37	c.1743_splice	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931533	0.34096	.	.	ENSG00000162592	ENST00000294600	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4455	0.67347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC27	3673870	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.689000	0.61723	2.455000	0.83008	0.655000	0.94253	.		0.647	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	Intron	A	3684010	G	A	3684010	5	1	228	1	0	0	0	0	0	0	1	0	2801	1275	44	3	1782	3	CCDC27	1	3684010	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08		3684010	245566611	1	15909											
CASZ1	54897	broad.mit.edu	37	chr1	10702922	10702922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgccgctcacctgccgCggtgctctcgttacccacgg	3	9	11	18	5	2	0	1	0	1	0	3	0	2	0	5	2	5	3	5	2	1	1	rs373145502		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:10702922C>T	ENST00000377022.3	-	20	4473	c.4156G>A	c.(4156-4158)Gcg>Acg	p.A1386T	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1386					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCACCTGCCGCGGTGCTCTCG	0.687																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4156-4158)Gcg>Acg		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.		C	THR/ALA	0,4172		0,0,2086	17	20	19		4156	2.8	0.1	1		19	2,8418		0,2,4208	no	missense	CASZ1	NM_001079843.1	58	0,2,6294	TT,TC,CC		0.0238,0.0,0.0159	possibly-damaging	1386/1760	10702922	2,12590	2086	4210	6296	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10702922C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4156G>A	1.37:g.10702922C>T	ENSP00000366221:p.Ala1386Thr						p.A1386T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	19	4476	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1386					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4156G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763853	0.31228	0.0	2.38E-4	ENSG00000130940	ENST00000377022	.	.	.	4.91	2.83	0.33086	.	0.138581	0.28828	U	0.014016	T	0.25827	0.0629	N	0.19112	0.55	0.46131	D	0.998887	P	0.39326	0.668	B	0.28465	0.09	T	0.05402	-1.0887	9	0.22706	T	0.39	-13.7395	12.2672	0.54684	0.4333:0.5667:0.0:0.0	.	1386	Q86V15	CASZ1_HUMAN	T	1386	.	ENSP00000366221:A1386T	A	-	1	0	CASZ1	10625509	0.998000	0.40836	0.070000	0.20053	0.301000	0.27625	3.411000	0.52672	1.065000	0.40693	-0.277000	0.10078	GCG		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		T	10702922	C	T	10702922	3	4	228	1	0	0	0	0	1	0	0	0	2685	768	27	1	1131	1	CASZ1	1	10702922	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	7018912	10702922	238547699	2	15910											
HSPG2	3339	broad.mit.edu	37	chr1	22170742	22170742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccagggtctgcccttctgCcactcgggaggaggagggct	6	8	15	12	1	2	0	0	0	2	0	4	3	3	3	3	5	2	1	3	5	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:22170742C>G	ENST00000374695.3	-	65	8594	c.8515G>C	c.(8515-8517)Gca>Cca	p.A2839P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2839	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCCTTCTGCCACTCGGGAG	0.682																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8518-8520)Gca>Cca		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						61	62	62					1																	22170742		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22170742C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8515G>C	1.37:g.22170742C>G	ENSP00000363827:p.Ala2839Pro					HSPG2_uc001bfj.3_Missense_Mutation_p.A2839P	p.A2840P	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	64	8558	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2839			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8518G>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708009	0.68615	.	.	ENSG00000142798	ENST00000374695	T	0.68025	-0.3	4.52	4.52	0.55395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37669	N	0.001984	T	0.77212	0.4097	L	0.57130	1.785	0.44918	D	0.997937	D;D	0.89917	1.0;0.99	D;D	0.80764	0.994;0.927	T	0.75181	-0.3408	10	0.30078	T	0.28	.	14.763	0.69619	0.0:1.0:0.0:0.0	.	779;2839	Q59EG0;P98160	.;PGBM_HUMAN	P	2839	ENSP00000363827:A2839P	ENSP00000363827:A2839P	A	-	1	0	HSPG2	22043329	1.000000	0.71417	0.741000	0.31004	0.863000	0.49368	2.549000	0.45803	2.051000	0.60960	0.462000	0.41574	GCA		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22170742	C	G	22170742	3	3	228	1	0	0	0	0	1	0	0	0	7430	739	26	5	4792	5	HSPG2	1	22170742	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	11467820	22170742	227079879	3	15911											
GRIK3	2899	broad.mit.edu	37	chr1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgccaccaatgatgcGtgtggacagggctttgggca	9	8	14	10	1	0	2	0	1	0	1	0	3	0	3	3	3	2	2	3	3	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:37282846G>A	ENST00000373091.3	-	13	1922	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R636C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	636					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCAATGATGCGTGTGGACAGG	0.562																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1906-1908)Cgc>Tgc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						143	127	132					1																	37282846		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37282846G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1906C>T	1.37:g.37282846G>A	ENSP00000362183:p.Arg636Cys					GRIK3_uc001cba.1_Missense_Mutation_p.R636C	p.R636C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			12	2041	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	636					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1906C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856428	0.71834	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.74632	-0.86;-0.86	5.74	4.8	0.61643	Ionotropic glutamate receptor (2);	0.118916	0.56097	D	0.000038	D	0.89663	0.6780	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91985	0.5598	10	0.87932	D	0	.	13.8912	0.63740	0.0:0.0:0.7268:0.2732	.	636;636	A9Z1Z8;Q13003	.;GRIK3_HUMAN	C	636	ENSP00000362183:R636C;ENSP00000362185:R636C	ENSP00000362183:R636C	R	-	1	0	GRIK3	37055433	0.990000	0.36364	0.969000	0.41365	0.973000	0.67179	1.929000	0.40114	2.720000	0.93068	0.650000	0.86243	CGC		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		A	37282846	G	A	37282846	3	1	228	1	0	0	0	0	1	0	0	0	6775	1145	40	1	869	1	GRIK3	1	37282846	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	15112104	37282846	211967775	4	15912											
PIK3R3	8503	broad.mit.edu	37	chr1	46509434	46509434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccaaggatgtctgctGgtaatggagcactagctcct	10	10	11	10	0	1	1	0	1	1	0	2	3	2	3	2	3	4	4	2	3	4	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:46509434G>T	ENST00000262741.5	-	10	1986	c.1297C>A	c.(1297-1299)Cag>Aag	p.Q433K	PIK3R3_ENST00000420542.1_Missense_Mutation_p.Q433K|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Missense_Mutation_p.Q338K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.Q374K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.Q479K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.Q374K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.Q433K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	433	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GATGTCTGCTGGTAATGGAGC	0.532																																						uc010olw.2																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(1435-1437)Cag>Aag		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.							177	149	158					1																	46509434		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46509434G>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1297C>A	1.37:g.46509434G>T	ENSP00000262741:p.Gln433Lys					PIK3R3_uc001cpb.4_Missense_Mutation_p.Q433K|PIK3R3_uc009vyb.3_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.3_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.4_Missense_Mutation_p.Q433K|PIK3R3_uc010olv.2_Missense_Mutation_p.Q223K	p.Q479K	NM_003629	NP_003620	Q92569	P55G_HUMAN			9	1452	-	Acute lymphoblastic leukemia(166;0.155)		433					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.1435C>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753338	0.49362	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.85702	-1.3;-1.3;-1.3;-1.43;-2.02;-1.28;-1.43	5.95	5.95	0.96441	SH2 motif (4);	0.187907	0.52532	D	0.000070	T	0.73892	0.3645	N	0.11927	0.2	0.80722	D	1	B;B;B;B	0.25206	0.057;0.009;0.12;0.005	B;B;B;B	0.20955	0.01;0.005;0.032;0.003	T	0.69617	-0.5097	10	0.09590	T	0.72	-9.2634	20.3931	0.98965	0.0:0.0:1.0:0.0	.	479;466;374;433	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	433;433;433;374;338;479;374	ENSP00000361075:Q433K;ENSP00000262741:Q433K;ENSP00000412546:Q433K;ENSP00000346188:Q374K;ENSP00000342484:Q338K;ENSP00000439913:Q479K;ENSP00000391431:Q374K	ENSP00000262741:Q433K	Q	-	1	0	PIK3R3	46282021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CAG		0.532	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		T	46509434	G	T	46509434	3	4	228	1	0	0	0	0	1	0	0	0	11920	1357	47	5	92	5	PIK3R3	1	46509434	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	9226588	46509434	202741187	5	15913											
PARS2	25973	broad.mit.edu	37	chr1	55224003	55224003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctccatgttggctgagaAgctgcagcggggacagatgg	8	9	16	8	1	1	2	0	1	1	2	2	4	1	3	1	4	3	4	1	4	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:55224003A>T	ENST00000371279.3	-	2	914	c.832T>A	c.(832-834)Ttc>Atc	p.F278I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	278					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGGCTGAGAAGCTGCAGCGG	0.562																																						uc021ont.1																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(832-834)Ttc>Atc		Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Proline(DB00172)						66	64	65					1																	55224003		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224003A>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.832T>A	1.37:g.55224003A>T	ENSP00000360327:p.Phe278Ile					PARS2_uc001cxy.3_Missense_Mutation_p.F278I	p.F278I	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			0	832	-			278					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.832T>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934185	0.52866	.	.	ENSG00000162396	ENST00000371279	T	0.78707	-1.2	5.66	5.66	0.87406	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.79614	2.46	0.80722	D	1	P	0.34615	0.459	B	0.34301	0.179	T	0.81516	-0.0897	10	0.87932	D	0	-25.2182	15.9023	0.79387	1.0:0.0:0.0:0.0	.	278	Q7L3T8	SYPM_HUMAN	I	278	ENSP00000360327:F278I	ENSP00000360327:F278I	F	-	1	0	PARS2	54996591	1.000000	0.71417	0.984000	0.44739	0.439000	0.31926	8.925000	0.92832	2.153000	0.67306	0.533000	0.62120	TTC		0.562	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		T	55224003	A	T	55224003	3	4	228	1	0	0	0	0	1	0	0	0	11467	72	3	5	599	5	PARS2	1	55224003	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	8714569	55224003	194026618	6	15914											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507037	74507037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtcctctggtcaaaagAgtgcgctcattatttaagtt	11	14	9	7	1	3	1	2	0	1	1	4	1	4	1	1	1	1	3	1	1	5	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:74507037A>G	ENST00000395089.1	-	6	1577	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	LRRIQ3_ENST00000354431.4_Silent_p.T526T			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	526								p.T526T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGGTCAAAAGAGTGCGCTCAT	0.358																																						uc001dfy.4																			1	Substitution - coding silent(1)	p.T526T(2)|p.R525C(2)|p.R525L(1)|p.R525F(1)	NS(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1576-1578)acT>acC		Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.							99	96	97					1																	74507037		1805	4072	5877	SO:0001819	synonymous_variant	127255							g.chr1:74507037A>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1578T>C	1.37:g.74507037A>G						LRRIQ3_uc001dfz.4_Intron	p.T526T	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			6	1770	-			526					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1578T>C	CCDS41350.1																																																																																				0.358	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		G	74507037	A	G	74507037	2	3	228	1	0	0	0	0	0	0	0	1	9030	291	11	4		4	LRRIQ3	1	74507037	Silent	SNP	A	TCGA-32-2491-01A-01D-1353-08	19283034	74507037	174743584	7	15915											
SF3B4	10262	broad.mit.edu	37	chr1	149898406	149898406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagaagtcgttcggctgCtgagccatggcgctcaccct	6	9	12	14	3	1	2	1	1	0	1	3	2	1	2	3	2	3	4	3	2	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:149898406C>G	ENST00000271628.8	-	3	1152	c.568G>C	c.(568-570)Gca>Cca	p.A190P	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	190					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGTTCGGCTGCTGAGCCATGG	0.562																																						uc001etk.2																			0				endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(568-570)Gca>Cca		Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.							82	79	80					1																	149898406		2203	4300	6503	SO:0001583	missense	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149898406C>G	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.568G>C	1.37:g.149898406C>G	ENSP00000271628:p.Ala190Pro					SF3B4_uc009wll.1_Missense_Mutation_p.A190P	p.A190P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	1061	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		190					Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	c.568G>C	CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991145	0.54041	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.24723	1.84;2.7	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	L	0.31294	0.92	0.80722	D	1	B;B	0.20671	0.047;0.028	B;B	0.20184	0.028;0.017	T	0.03739	-1.1008	10	0.33940	T	0.23	.	16.9828	0.86333	0.0:1.0:0.0:0.0	.	190;190	Q53FG6;Q15427	.;SF3B4_HUMAN	P	190;147	ENSP00000271628:A190P;ENSP00000391114:A147P	ENSP00000271628:A190P	A	-	1	0	SF3B4	148165030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.552000	0.86080	0.643000	0.83706	GCA		0.562	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		G	149898406	C	G	149898406	3	3	228	1	0	0	0	0	1	0	0	0	14153	797	28	5	722	5	SF3B4	1	149898406	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	75391369	149898406	99352215	8	15916											
FMO3	2328	broad.mit.edu	37	chr1	171079944	171079944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtgttttttaaggtcatGatcagttccagaagtggctc	8	16	11	6	0	2	2	2	1	0	1	4	2	3	2	1	3	0	3	1	3	2	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:171079944G>A	ENST00000367755.4	+	6	744	c.633G>A	c.(631-633)atG>atA	p.M211I	FMO3_ENST00000538429.1_Missense_Mutation_p.M148I|FMO3_ENST00000392085.2_Missense_Mutation_p.M211I|FMO3_ENST00000542847.1_Missense_Mutation_p.M191I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	211					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTAAGGTCATGATCAGTTCCA	0.463																																						uc001ghi.3																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(631-633)atG>atA		Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.							172	154	160					1																	171079944		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171079944G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.633G>A	1.37:g.171079944G>A	ENSP00000356729:p.Met211Ile					FMO3_uc001ghh.3_Missense_Mutation_p.M211I|FMO3_uc010pmb.2_Missense_Mutation_p.M191I|FMO3_uc010pmc.2_Missense_Mutation_p.M148I	p.M211I	NM_001002294	NP_008825	P31513	FMO3_HUMAN			5	744	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		211					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.633G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441951	0.25900	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.99	2.04	0.26737	.	0.906415	0.09821	N	0.751419	T	0.04048	0.0113	N	0.00064	-2.31	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.21109	-1.0255	10	0.44086	T	0.13	-0.3556	7.3742	0.26818	0.0:0.5838:0.2668:0.1494	.	148;191;211	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	211;211;191;148	ENSP00000356729:M211I;ENSP00000375935:M211I;ENSP00000444073:M191I;ENSP00000439500:M148I	ENSP00000356729:M211I	M	+	3	0	FMO3	169346568	0.000000	0.05858	0.841000	0.33234	0.542000	0.35054	-0.778000	0.04664	0.262000	0.21774	-0.153000	0.13522	ATG		0.463	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		A	171079944	G	A	171079944	3	1	228	1	0	0	0	0	1	0	0	0	5956	1290	45	3	651	3	FMO3	1	171079944	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21181538	171079944	78170677	9	15917											
ABL2	27	broad.mit.edu	37	chr1	179086548	179086548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataggaaatttggctccagCatgagcagtataagtgtctc	13	11	10	7	0	1	1	0	1	1	0	3	2	2	2	1	2	2	4	1	2	5	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:179086548C>T	ENST00000502732.1	-	8	1530	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	ABL2_ENST00000504405.1_Missense_Mutation_p.A407T|ABL2_ENST00000367623.4_Missense_Mutation_p.A422T|ABL2_ENST00000511413.1_Missense_Mutation_p.A443T|ABL2_ENST00000408940.3_Missense_Mutation_p.A407T|ABL2_ENST00000507173.1_Missense_Mutation_p.A422T|ABL2_ENST00000344730.3_Missense_Mutation_p.A428T|ABL2_ENST00000392043.3_Missense_Mutation_p.A422T|ABL2_ENST00000512653.1_Missense_Mutation_p.A428T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGGCTCCAGCATGAGCAGTA	0.443			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1327-1329)Gct>Act		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						157	147	150					1																	179086548		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179086548C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1327G>A	1.37:g.179086548C>T	ENSP00000427562:p.Ala443Thr					ABL2_uc010pnf.2_Missense_Mutation_p.A443T|ABL2_uc010png.2_Missense_Mutation_p.A422T|ABL2_uc010pnh.2_Missense_Mutation_p.A422T|ABL2_uc009wxe.3_Missense_Mutation_p.A422T|ABL2_uc001gmg.4_Missense_Mutation_p.A428T|ABL2_uc001gmi.4_Missense_Mutation_p.A428T|ABL2_uc010pne.2_Missense_Mutation_p.A407T|ABL2_uc001gmk.3_Missense_Mutation_p.A407T|ABL2_uc009wxf.2_Missense_Mutation_p.A428T	p.A443T	NM_007314	NP_009298	P42684	ABL2_HUMAN			7	1614	-			443			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1327G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211107	0.79240	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000081	T	0.79678	0.4487	N	0.02181	-0.65	0.80722	D	1	D;B;B;B;B;B;B;P;P;P;B	0.76494	0.999;0.133;0.133;0.133;0.133;0.026;0.415;0.47;0.938;0.47;0.133	D;B;B;B;B;B;B;B;B;B;B	0.75020	0.985;0.032;0.032;0.032;0.032;0.01;0.078;0.128;0.395;0.128;0.032	D	0.86613	0.1874	10	0.59425	D	0.04	.	17.9811	0.89141	0.0:1.0:0.0:0.0	.	422;422;443;407;407;422;407;443;428;407;428	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	T	443;407;428;428;407;422;422;443;422	ENSP00000427562:A443T;ENSP00000386152:A407T;ENSP00000339209:A428T;ENSP00000423578:A428T;ENSP00000426831:A407T;ENSP00000356595:A422T;ENSP00000423413:A422T;ENSP00000424697:A443T;ENSP00000375897:A422T	ENSP00000339209:A428T	A	-	1	0	ABL2	177353171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.533000	0.85409	0.655000	0.94253	GCT		0.443	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		T	179086548	C	T	179086548	3	4	228	1	0	0	0	0	1	0	0	0	93	710	25	3	2286	3	ABL2	1	179086548	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	8006604	179086548	70164073	10	15918											
PTPRC	5788	broad.mit.edu	37	chr1	198685877	198685877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaatttaaaaccttataCgaaatatgttttatcattac	17	15	3	6	1	1	0	1	0	0	0	1	1	1	0	1	0	3	2	1	0	10	8			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:198685877C>T	ENST00000367376.2	+	13	1523	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRC_ENST00000594404.1_Missense_Mutation_p.T290M|PTPRC_ENST00000348564.6_Missense_Mutation_p.T292M|PTPRC_ENST00000352140.3_Missense_Mutation_p.T403M|PTPRC_ENST00000442510.2_Missense_Mutation_p.T453M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAACCTTATACGAAATATGTT	0.313																																						uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(1351-1353)aCg>aTg		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.							63	66	65					1																	198685877		2203	4299	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198685877C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1352C>T	1.37:g.198685877C>T	ENSP00000356346:p.Thr451Met					PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc021pgy.1_Missense_Mutation_p.T405M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	p.T451M	NM_002838	NP_002829	P08575	PTPRC_HUMAN			12	1532	+			451			Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1352C>T		.	.	.	.	.	.	.	.	.	.	C	13.53	2.264648	0.40095	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.62232	0.04	4.43	0.166	0.14999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.398022	0.21637	N	0.071382	T	0.70745	0.3259	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.984;0.991;0.984;0.984;0.984	T	0.60459	-0.7259	10	0.72032	D	0.01	.	7.7617	0.28957	0.4644:0.3845:0.151:0.0	.	387;387;292;403;451	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	M	453;387;403;403;337;451;385;290	ENSP00000193532:T403M	ENSP00000306782:T290M	T	+	2	0	PTPRC	196952500	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.222000	0.09190	0.043000	0.15746	0.650000	0.86243	ACG		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198685877	C	T	198685877	3	4	228	1	0	0	0	0	1	0	0	0	12797	536	19	1	1409	1	PTPRC	1	198685877	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	19599329	198685877	50564744	11	15919											
OPTC	26254	broad.mit.edu	37	chr1	203466194	203466194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcgtcaaaccccacgatGaccagacctactacagcagg	12	5	7	17	2	1	2	1	1	0	1	2	3	1	2	5	1	4	1	5	1	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:203466194G>C	ENST00000367222.2	+	3	437	c.321G>C	c.(319-321)atG>atC	p.M107I		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	107	Ser/Thr-rich.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCCACGATGACCAGACCTA	0.562																																						uc001gzu.1																			0				breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20						c.(319-321)atG>atC		Homo sapiens opticin (OPTC), mRNA.							133	105	115					1																	203466194		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203466194G>C	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.321G>C	1.37:g.203466194G>C	ENSP00000356191:p.Met107Ile						p.M107I	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	437	+			107			Ser/Thr-rich.		Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.321G>C	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915004	0.33815	.	.	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.55234	0.64;0.53	4.4	1.3	0.21679	.	2.677360	0.01536	N	0.019027	T	0.43166	0.1235	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.09618	-1.0666	10	0.21540	T	0.41	-0.9555	4.0515	0.09798	0.2152:0.1966:0.5882:0.0	.	107	Q9UBM4	OPT_HUMAN	I	107	ENSP00000356191:M107I;ENSP00000399491:M107I	ENSP00000356191:M107I	M	+	3	0	OPTC	201732817	0.000000	0.05858	0.131000	0.22000	0.408000	0.30992	0.152000	0.16302	0.615000	0.30124	0.561000	0.74099	ATG		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		C	203466194	G	C	203466194	3	2	228	1	0	0	0	0	1	0	0	0	10888	1290	45	5	327	5	OPTC	1	203466194	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4780317	203466194	45784427	12	15920											
OBSCN	84033	broad.mit.edu	37	chr1	228404990	228404990	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccggctccgcgtctctgGtgagcacgctgtgtgtgcat	3	12	13	13	4	1	1	0	1	1	0	4	1	3	1	2	2	2	4	2	2	0	1	rs531253434	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:228404990G>T	ENST00000422127.1	+	8	2697		c.e8+1		OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCGTCTCTGGTGAGCACGCT	0.652																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e8+1		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							30	33	32					1																	228404990		2183	4277	6460	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228404990G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2653+1G>T	1.37:g.228404990G>T						OBSCN_uc001hsn.3_Splice_Site_p.E885_splice	p.E885_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			8	2697	+		Prostate(94;0.0405)	885					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.2653_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299471	0.40694	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	4.45	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9763	0.47467	0.0921:0.0:0.9079:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226471613	1.000000	0.71417	0.858000	0.33744	0.420000	0.31355	7.321000	0.79088	1.088000	0.41272	0.655000	0.94253	.		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron	T	228404990	G	T	228404990	5	4	228	1	0	0	0	0	0	0	1	0	10812	1275	44	5	2680	5	OBSCN	1	228404990	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08	24938796	228404990	20845631	13	15921											
CHML	1122	broad.mit.edu	37	chr1	241797601	241797601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacataattctgtgacccGtacagcacaagctcctggct	12	9	8	12	1	1	2	0	1	1	1	2	2	2	2	2	1	4	4	2	1	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:241797601G>A	ENST00000366553.1	-	1	1631	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	490					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTGTGACCCGTACAGCACAA	0.418																																						uc001hzd.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1468-1470)Cgg>Tgg		Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.							91	88	89					1																	241797601		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797601G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1468C>T	1.37:g.241797601G>A	ENSP00000355511:p.Arg490Trp					OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	p.R490W	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		0	1632	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	490					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1468C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919698	0.52653	.	.	ENSG00000203668	ENST00000366553	D	0.85411	-1.98	5.08	4.16	0.48862	.	0.522123	0.21275	N	0.077241	D	0.90638	0.7064	.	.	.	0.39309	D	0.965039	D	0.89917	1.0	D	0.80764	0.994	D	0.89968	0.4091	9	0.48119	T	0.1	-4.1822	11.3799	0.49750	0.089:0.0:0.911:0.0	.	490	P26374	RAE2_HUMAN	W	490	ENSP00000355511:R490W	ENSP00000355511:R490W	R	-	1	2	CHML	239864224	0.946000	0.32159	1.000000	0.80357	0.944000	0.59088	1.727000	0.38095	2.826000	0.97356	0.655000	0.94253	CGG		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		A	241797601	G	A	241797601	3	1	228	1	0	0	0	0	1	0	0	0	3351	1144	40	1	506	1	CHML	1	241797601	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	13392611	241797601	7453020	14	15922											
GDF7	151449	broad.mit.edu	37	chr2	20870425	20870425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcctgctgtactcgcGggcagctgagcccctagtcg	5	7	13	16	4	0	1	0	1	0	0	2	1	0	1	4	1	4	4	4	1	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:20870425G>A	ENST00000272224.3	+	2	1169	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	198					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTACTCGCGGGCAGCTGAG	0.731																																						uc002rdz.1																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(592-594)cGg>cAg		Homo sapiens growth differentiation factor 7 (GDF7), mRNA.							4	5	5					2																	20870425		2053	4045	6098	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870425G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.593G>A	2.37:g.20870425G>A	ENSP00000272224:p.Arg198Gln						p.R198Q	NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN			1	1169	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		198						Missense_Mutation	SNP	ENST00000272224.3	37	c.593G>A	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000143869	ENST00000272224	T	0.70282	-0.47	3.66	2.77	0.32553	Transforming growth factor-beta, N-terminal (1);	0.215096	0.26180	U	0.025874	T	0.79209	0.4407	L	0.57536	1.79	0.28539	N	0.912203	D	0.89917	1.0	D	0.80764	0.994	T	0.72855	-0.4166	10	0.87932	D	0	.	11.1755	0.48596	0.0928:0.0:0.9072:0.0	.	198	Q7Z4P5	GDF7_HUMAN	Q	198	ENSP00000272224:R198Q	ENSP00000272224:R198Q	R	+	2	0	GDF7	20733906	0.999000	0.42202	0.990000	0.47175	0.383000	0.30230	6.117000	0.71577	0.876000	0.35872	0.462000	0.41574	CGG		0.731	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		A	20870425	G	A	20870425	3	1	228	1	0	0	0	0	1	0	0	0	6318	1116	39	2	599	2	GDF7	2	20870425	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		20870425	222328948	15	15923											
CAPN13	92291	broad.mit.edu	37	chr2	30986009	30986009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccattctccatcgcctgtGctgtatctgttggcttcaag	5	14	9	13	1	3	0	1	0	2	0	5	0	3	0	3	1	1	4	3	1	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:30986009G>C	ENST00000295055.8	-	7	889	c.713C>G	c.(712-714)gCa>gGa	p.A238G	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.A238G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	238	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCGCCTGTGCTGTATCTGT	0.522																																						uc021vfn.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(712-714)gCa>gGa		Homo sapiens calpain 13 (CAPN13), mRNA.							61	66	64					2																	30986009		1992	4169	6161	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30986009G>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.713C>G	2.37:g.30986009G>C	ENSP00000295055:p.Ala238Gly					CAPN13_uc021vfm.1_Missense_Mutation_p.A238G|CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	p.A238G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			5	745	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		238			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.713C>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505840	0.12822	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	4.78	2.71	0.32032	Peptidase C2, calpain, catalytic domain (3);	0.753217	0.12583	N	0.456271	D	0.83566	0.5282	L	0.49350	1.555	0.09310	N	1	B	0.31351	0.32	B	0.34991	0.193	T	0.72360	-0.4317	10	0.45353	T	0.12	.	9.3672	0.38232	0.0:0.0:0.4053:0.5947	.	238	Q6MZZ7	CAN13_HUMAN	G	238	ENSP00000295055:A238G;ENSP00000431298:A238G	ENSP00000295055:A238G	A	-	2	0	CAPN13	30839513	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.130000	0.31393	0.439000	0.26476	0.462000	0.41574	GCA		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		C	30986009	G	C	30986009	3	2	228	1	0	0	0	0	1	0	0	0	2626	1319	46	5	1360	5	CAPN13	2	30986009	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10115584	30986009	212213364	16	15924											
EHBP1	23301	broad.mit.edu	37	chr2	63086375	63086375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtgaattcaaatccatttGatgatcctgatgctgcagaa	12	12	8	9	1	1	5	1	4	0	1	3	5	3	5	3	0	2	2	3	0	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:63086375G>C	ENST00000263991.5	+	9	1293	c.811G>C	c.(811-813)Gat>Cat	p.D271H	EHBP1_ENST00000405289.1_Missense_Mutation_p.D236H|EHBP1_ENST00000354487.3_Missense_Mutation_p.D236H|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.D236H|EHBP1_ENST00000431489.1_Missense_Mutation_p.D236H	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	271						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATCCATTTGATGATCCTGA	0.358																																						uc002sby.3																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(811-813)Gat>Cat		Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.							126	122	124					2																	63086375		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63086375G>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.811G>C	2.37:g.63086375G>C	ENSP00000263991:p.Asp271His					EHBP1_uc010fcp.3_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.3_Missense_Mutation_p.D236H|EHBP1_uc002scb.3_Missense_Mutation_p.D236H	p.D271H	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		8	1293	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		271					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.811G>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288295	0.59976	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.75050	-0.86;0.83;-0.86;-0.9;-0.86;-0.86	4.88	4.88	0.63580	.	0.191835	0.44688	D	0.000437	T	0.76435	0.3987	L	0.34521	1.04	0.58432	D	0.999997	P;B;B	0.35050	0.482;0.115;0.232	P;B;B	0.48524	0.58;0.303;0.376	T	0.77453	-0.2582	10	0.51188	T	0.08	.	18.0295	0.89278	0.0:0.0:1.0:0.0	.	236;236;271	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	H	236;236;236;271;236;236	ENSP00000384143:D236H;ENSP00000384829:D236H;ENSP00000403783:D236H;ENSP00000263991:D271H;ENSP00000346482:D236H;ENSP00000385524:D236H	ENSP00000263991:D271H	D	+	1	0	EHBP1	62939879	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.987000	0.76206	2.263000	0.75096	0.591000	0.81541	GAT		0.358	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		C	63086375	G	C	63086375	3	2	228	1	0	0	0	0	1	0	0	0	4975	1290	45	5	841	5	EHBP1	2	63086375	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	32100366	63086375	180112998	17	15925											
SMYD5	10322	broad.mit.edu	37	chr2	73449902	73449902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaactggaacttctgcGgagactcttcacagaggccc	9	7	12	13	1	3	2	1	0	2	2	3	4	3	3	2	4	3	0	2	4	2	2	rs116053390		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:73449902G>A	ENST00000389501.4	+	7	707	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACTTCTGCGGAGACTCTTC	0.592													G|||	1	0.000199681	0	0	5008	,	,		18165	0		0.001	False		,,,				2504	0					uc002siw.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(661-663)cGg>cAg		Homo sapiens SMYD family member 5 (SMYD5), mRNA.		G	GLN/ARG	0,4406		0,0,2203	44	41	42		662	3.7	1	2	dbSNP_132	42	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SMYD5	NM_006062.2	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	221/419	73449902	3,13003	2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73449902G>A	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.662G>A	2.37:g.73449902G>A	ENSP00000374152:p.Arg221Gln					SMYD5_uc010yre.1_Missense_Mutation_p.R105Q	p.R221Q	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			6	691	+			221					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.662G>A	CCDS33221.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.06	2.719985	0.48728	0.0	3.49E-4	ENSG00000135632	ENST00000389501	T	0.42513	0.97	4.6	3.71	0.42584	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.34513	0.0900	L	0.42245	1.32	0.35293	D	0.782328	B	0.23377	0.084	B	0.25291	0.059	T	0.38714	-0.9648	10	0.19147	T	0.46	-9.9667	13.3566	0.60631	0.0:0.0:0.8416:0.1584	.	221	Q6GMV2	SMYD5_HUMAN	Q	221	ENSP00000374152:R221Q	ENSP00000374152:R221Q	R	+	2	0	SMYD5	73303410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.998000	0.49465	1.280000	0.44463	0.561000	0.74099	CGG		0.592	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		A	73449902	G	A	73449902	3	1	228	1	0	0	0	0	1	0	0	0	14825	1116	39	2	688	2	SMYD5	2	73449902	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10363527	73449902	169749471	18	15926											
SEMA4F	10505	broad.mit.edu	37	chr2	74907015	74907016	+	Frame_Shift_Ins	INS	-	-	G																															cagtgggggcgggactggctINSggcttcttcttggggattct																										TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:74907015_74907016insG	ENST00000357877.2	+	14	2141_2142	c.1992_1993insG	c.(1993-1995)ggcfs	p.G665fs	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.G510fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	665					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CGGGACTGGCTGGCTTCTTCTT	0.619																																						uc002sna.1																			0		p.G665V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1990-1995)gctggcfs		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.				21,4243		0,21,2111						-5	0.7			43	47,8199		0,47,4076	no	frameshift	SEMA4F	NM_004263.3		0,68,6187	A1A1,A1R,RR		0.57,0.4925,0.5436				68,12442				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74907015_74907016insG	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1994dupG	2.37:g.74907017_74907017dupG	ENSP00000350547:p.Gly665fs					SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs	p.A664fs	NM_004263	NP_004254	O95754	SEM4F_HUMAN			13	2103_2104	+			664					Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1992_1993insG	CCDS1955.1																																																																																				0.619	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		G	74907016	-	G	74907015	7	5	228	1	0	1	1	0	0	0	0	0	14035	1567	55	0	2046	0	SEMA4F	2	74907015	Frame_Shift_Ins	INS	-	TCGA-32-2491-01A-01D-1353-08	1457113	74907015	168292358	19	15927											
CLASP1	23332	broad.mit.edu	37	chr2	122220134	122220134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggtacatcatcaaatgCtttaataaaatcctcttcat	15	14	3	9	0	4	0	3	0	1	0	5	0	5	0	1	1	3	2	1	1	6	6			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:122220134C>T	ENST00000263710.4	-	10	1302	c.913G>A	c.(913-915)Gca>Aca	p.A305T	CLASP1_ENST00000541377.1_Missense_Mutation_p.A305T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A305T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A305T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A305T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A73T|CLASP1_ENST00000541859.1_Missense_Mutation_p.A74T|CLASP1_ENST00000430234.1_5'UTR	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	305					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCATCAAATGCTTTAATAAAA	0.328																																						uc002tnc.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(913-915)Gca>Aca		Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.							92	87	88					2																	122220134		1852	4102	5954	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122220134C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.913G>A	2.37:g.122220134C>T	ENSP00000263710:p.Ala305Thr					CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.A305T|CLASP1_uc010yza.2_Missense_Mutation_p.A305T|CLASP1_uc021vnl.1_Missense_Mutation_p.A305T|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.A305T	p.A305T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			9	1303	-	Renal(3;0.0496)		305					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.913G>A		.	.	.	.	.	.	.	.	.	.	C	19.35	3.810718	0.70797	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.19;2.07;2.07;2.08;0.75;2.08;0.72;0.7	5.13	5.13	0.70059	Armadillo-type fold (1);	0.102584	0.64402	D	0.000003	T	0.62853	0.2462	M	0.67397	2.05	0.58432	D	0.999999	B;B;B;B	0.17268	0.008;0.013;0.01;0.021	B;B;B;B	0.15484	0.004;0.013;0.008;0.012	T	0.61143	-0.7122	10	0.52906	T	0.07	.	17.2951	0.87168	0.0:1.0:0.0:0.0	.	305;305;305;305	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	305;305;305;305;74;305;73;74;74	ENSP00000263710:A305T;ENSP00000389372:A305T;ENSP00000380717:A305T;ENSP00000441625:A305T;ENSP00000441770:A74T;ENSP00000386442:A305T;ENSP00000392886:A74T;ENSP00000402101:A74T	ENSP00000263710:A305T	A	-	1	0	CLASP1	121936604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.163000	0.58183	2.824000	0.97209	0.655000	0.94253	GCA		0.328	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		T	122220134	C	T	122220134	3	4	228	1	0	0	0	0	1	0	0	0	3454	797	28	3	3879	3	CLASP1	2	122220134	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	47313119	122220134	120979239	20	15928											
MYO3B	140469	broad.mit.edu	37	chr2	171358331	171358331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcggaggaaatttaagaAaataagcaacagaaggaatg	19	7	11	4	1	0	2	0	0	0	2	1	5	0	5	0	3	3	2	0	3	8	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:171358331A>G	ENST00000408978.4	+	28	3469	c.3326A>G	c.(3325-3327)aAa>aGa	p.K1109R	MYO3B_ENST00000334231.6_Missense_Mutation_p.K1118R|MYO3B_ENST00000409044.3_Intron|MYO3B_ENST00000602629.1_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1109	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAATTTAAGAAAATAAGCAAC	0.348																																						uc002ufy.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(3325-3327)aAa>aGa		Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.							79	74	75					2																	171358331		1830	4091	5921	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171358331A>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3326A>G	2.37:g.171358331A>G	ENSP00000386213:p.Lys1109Arg					MYO3B_uc002ufv.3_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1109R|MYO3B_uc002ufz.3_Intron|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Intron|MYO3B_uc002ugb.3_Intron	p.K1109R	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			27	3469	+			1109			IQ 2.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.3326A>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.158712	0.38119	.	.	ENSG00000071909	ENST00000408978;ENST00000317915;ENST00000334231	T;T	0.30182	1.54;1.54	5.76	4.6	0.57074	.	0.398524	0.29995	N	0.010679	T	0.27134	0.0665	L	0.42245	1.32	0.24595	N	0.993805	B;B	0.09022	0.002;0.0	B;B	0.15484	0.013;0.001	T	0.13176	-1.0519	10	0.30078	T	0.28	.	13.1465	0.59465	0.8665:0.1334:0.0:0.0	.	1109;1109	Q8WXR4-5;Q8WXR4	.;MYO3B_HUMAN	R	1109;1108;1118	ENSP00000386213:K1109R;ENSP00000335100:K1118R	ENSP00000314213:K1108R	K	+	2	0	MYO3B	171066577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.099000	0.64554	1.001000	0.39076	0.459000	0.35465	AAA		0.348	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			G	171358331	A	G	171358331	3	3	228	1	0	0	0	0	1	0	0	0	10077	14	1	4	3436	4	MYO3B	2	171358331	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	49138197	171358331	71841042	21	15929											
DFNB59	494513	broad.mit.edu	37	chr2	179325759	179325759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctttacttggatgatCttttttctgactactatgac	9	17	6	9	0	2	3	0	3	2	0	2	4	2	4	0	1	3	1	0	1	3	8			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179325759C>A	ENST00000409117.3	+	7	1173	c.817C>A	c.(817-819)Ctt>Att	p.L273I	DFNB59_ENST00000375129.4_Missense_Mutation_p.L273I	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	273					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTTGGATGATCTTTTTTCTGA	0.348																																						uc002umi.4																			0		p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(817-819)Ctt>Att		Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.							231	206	214					2																	179325759		1867	4107	5974	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179325759C>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.817C>A	2.37:g.179325759C>A	ENSP00000386647:p.Leu273Ile					MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.L273I	p.L273I	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		6	1173	+			273					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.817C>A	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453780	0.43531	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.62232	0.04;0.04	6.04	6.04	0.98038	.	0.241340	0.27327	U	0.019861	T	0.44540	0.1298	N	0.12182	0.205	0.26651	N	0.972091	B	0.12013	0.005	B	0.10450	0.005	T	0.18871	-1.0323	10	0.20519	T	0.43	-13.1904	15.3271	0.74172	0.1397:0.8603:0.0:0.0	.	273	Q0ZLH3	PJVK_HUMAN	I	273	ENSP00000386647:L273I;ENSP00000364271:L273I	ENSP00000364271:L273I	L	+	1	0	DFNB59	179034005	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.055000	0.41345	2.873000	0.98535	0.563000	0.77884	CTT		0.348	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			A	179325759	C	A	179325759	3	1	228	1	0	0	0	0	1	0	0	0	4456	913	32	5	839	5	DFNB59	2	179325759	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	7967428	179325759	63873614	22	15930											
TTN	7273	broad.mit.edu	37	chr2	179423224	179423224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgcacatttaacccagtTtttctgtcctttttctagtg	7	18	5	11	0	2	0	0	0	2	0	3	0	3	0	2	0	2	2	2	0	2	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179423224T>A	ENST00000591111.1	-	277	82263	c.82039A>T	c.(82039-82041)Aac>Tac	p.N27347Y	TTN_ENST00000342175.6_Missense_Mutation_p.N20115Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N20048Y|TTN_ENST00000460472.2_Missense_Mutation_p.N19923Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N28988Y|TTN_ENST00000342992.6_Missense_Mutation_p.N26420Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27347	Fibronectin type-III 99. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACCCAGTTTTTCTGTCCT	0.438																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79258-79260)Aac>Tac		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							138	132	134					2																	179423224		1890	4134	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423224T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82039A>T	2.37:g.179423224T>A	ENSP00000465570:p.Asn27347Tyr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N20115Y|TTN_uc021vta.1_Missense_Mutation_p.N20048Y|TTN_uc021vtb.1_Missense_Mutation_p.N19923Y	p.N26420Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	79483	-			27347			Fibronectin type-III 92.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79258A>T		.	.	.	.	.	.	.	.	.	.	T	15.48	2.847273	0.51164	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54515	0.1863	L	0.39020	1.185	0.30058	N	0.811163	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.41299	0.353;0.353;0.353;0.353	T	0.61008	-0.7149	9	0.87932	D	0	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	19923;20048;20115;27347	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	26420;19923;20115;20048;19920	ENSP00000343764:N26420Y;ENSP00000434586:N19923Y;ENSP00000340554:N20115Y;ENSP00000352154:N20048Y	ENSP00000340554:N20115Y	N	-	1	0	TTN	179131470	1.000000	0.71417	0.950000	0.38849	0.996000	0.88848	5.153000	0.64888	2.324000	0.78689	0.533000	0.62120	AAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179423224	T	A	179423224	3	1	228	1	0	0	0	0	1	0	0	0	16732	1841	64	5	21161	5	TTN	2	179423224	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	97465	179423224	63776149	23	15931											
TTN	7273	broad.mit.edu	37	chr2	179424446	179424446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgatgtacgagagtCtgtggtatcaacataagctc	11	11	12	7	1	3	2	2	1	1	1	4	3	3	2	0	2	3	3	0	2	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179424446C>A	ENST00000591111.1	-	276	81714	c.81490G>T	c.(81490-81492)Gac>Tac	p.D27164Y	TTN_ENST00000342175.6_Missense_Mutation_p.D19932Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19865Y|TTN_ENST00000460472.2_Missense_Mutation_p.D19740Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D28805Y|TTN_ENST00000342992.6_Missense_Mutation_p.D26237Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27164	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACGAGAGTCTGTGGTATCA	0.433																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78709-78711)Gac>Tac		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							166	158	161					2																	179424446		2053	4212	6265	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424446C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81490G>T	2.37:g.179424446C>A	ENSP00000465570:p.Asp27164Tyr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D19932Y|TTN_uc021vta.1_Missense_Mutation_p.D19865Y|TTN_uc021vtb.1_Missense_Mutation_p.D19740Y	p.D26237Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	78934	-			27164			Fibronectin type-III 91.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78709G>T		.	.	.	.	.	.	.	.	.	.	C	11.12	1.546396	0.27652	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.87	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65101	0.2659	M	0.87038	2.855	0.41853	D	0.990183	P;P;P;P	0.35107	0.484;0.484;0.484;0.484	P;P;P;P	0.52514	0.701;0.701;0.701;0.701	T	0.68678	-0.5345	9	0.87932	D	0	.	13.0317	0.58845	0.0:0.8739:0.0:0.1261	.	19740;19865;19932;27164	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	26237;19740;19932;19865;19737	ENSP00000343764:D26237Y;ENSP00000434586:D19740Y;ENSP00000340554:D19932Y;ENSP00000352154:D19865Y	ENSP00000340554:D19932Y	D	-	1	0	TTN	179132692	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.373000	0.52394	2.941000	0.99782	0.655000	0.94253	GAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179424446	C	A	179424446	3	1	228	1	0	0	0	0	1	0	0	0	16732	913	32	5	21714	5	TTN	2	179424446	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1222	179424446	63774927	24	15932											
SGPP2	130367	broad.mit.edu	37	chr2	223339305	223339305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttatgtacagaagtacGtcgtgaagaattatttctac	13	13	9	6	2	1	3	0	1	1	2	2	3	1	3	0	1	3	3	0	1	8	6	rs147179845		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:223339305G>A	ENST00000321276.7	+	2	324	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	80					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		ACAGAAGTACGTCGTGAAGAA	0.363																																						uc010zlo.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18						c.(238-240)Gtc>Atc		Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.							137	140	139					2																	223339305		2202	4300	6502	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223339305G>A	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.238G>A	2.37:g.223339305G>A	ENSP00000315137:p.Val80Ile					SGPP2_uc010zlp.2_5'UTR	p.V80I	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	1	238	+		Renal(207;0.0376)	80					A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.238G>A	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	G	5.402	0.259402	0.10239	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.52	-3.08	0.05347	.	0.600257	0.16677	N	0.204134	T	0.20333	0.0489	N	0.10972	0.075	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.10567	-1.0624	9	0.36615	T	0.2	-4.5187	11.1444	0.48422	0.3499:0.1112:0.5389:0.0	.	80	Q8IWX5	SGPP2_HUMAN	I	80	.	ENSP00000315137:V80I	V	+	1	0	SGPP2	223047549	0.026000	0.19158	0.050000	0.19076	0.892000	0.51952	-0.280000	0.08468	-0.769000	0.04620	-0.459000	0.05422	GTC		0.363	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			A	223339305	G	A	223339305	3	1	228	1	0	0	0	0	1	0	0	0	14220	1145	40	1	244	1	SGPP2	2	223339305	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	43914859	223339305	19860068	25	15933											
SP140	11262	broad.mit.edu	37	chr2	231106159	231106159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaatgaataatgtaaaCgatttagaagatagacccag	18	9	7	7	1	0	4	0	1	0	3	1	5	1	4	2	0	1	1	2	0	8	5	rs569118981		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:231106159C>T	ENST00000392045.3	+	4	561	c.447C>T	c.(445-447)aaC>aaT	p.N149N	SP140_ENST00000350136.5_Silent_p.N129N|SP140_ENST00000343805.6_Silent_p.N149N|SP140_ENST00000417495.3_Silent_p.N149N|SP140_ENST00000486687.2_Silent_p.N149N|SP140_ENST00000420434.3_Silent_p.N149N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	149					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATAATGTAAACGATTTAGAAG	0.373																																						uc002vql.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(445-447)aaC>aaT		Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.							154	142	145					2																	231106159		1896	4108	6004	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231106159C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.447C>T	2.37:g.231106159C>T						SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.N149N|SP140_uc002vqn.3_Silent_p.N149N|SP140_uc002vqm.3_Silent_p.N149N|SP140_uc010fxl.3_Silent_p.N149N	p.N149N	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	3	562	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	149					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.447C>T	CCDS42831.1																																																																																				0.373	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231106159	C	T	231106159	2	4	228	1	0	0	0	0	0	0	0	1	14962	535	19	1		1	SP140	2	231106159	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	7766854	231106159	12093214	26	15934											
RBM44	375316	broad.mit.edu	37	chr2	238726827	238726827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgcagtcagagataatcAggcaatagaagataatacgt	17	8	10	6	2	2	3	2	0	0	3	3	5	2	3	0	1	1	2	0	1	6	4	rs199755747		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:238726827A>G	ENST00000409864.1	+	3	1522	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	RBM44_ENST00000316997.4_Missense_Mutation_p.Q423R|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	422						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAGATAATCAGGCAATAGAA	0.368													A|||	1	0.000199681	0	0	5008	,	,		20507	0		0.001	False		,,,				2504	0					uc002vxi.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1267-1269)cAg>cGg		Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.		A	ARG/GLN	0,3832		0,0,1916	47	44	45		1268	5.9	0.2	2		45	5,8239		0,5,4117	yes	missense	RBM44	NM_001080504.2	43	0,5,6033	GG,GA,AA		0.0607,0.0,0.0414	probably-damaging	423/1053	238726827	5,12071	1916	4122	6038	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726827A>G	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1268A>G	2.37:g.238726827A>G	ENSP00000386727:p.Gln423Arg						p.Q423R	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	2	1400	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	422					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1268A>G	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	8.850	0.944442	0.18356	0.0	6.07E-4	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.27890	1.64;1.64	5.86	5.86	0.93980	.	0.539068	0.18014	N	0.154474	T	0.36496	0.0969	M	0.64997	1.995	0.09310	N	1	D	0.53619	0.961	P	0.47206	0.541	T	0.31641	-0.9936	10	0.19590	T	0.45	-2.7825	12.6445	0.56728	1.0:0.0:0.0:0.0	.	422	Q6ZP01	RBM44_HUMAN	R	423	ENSP00000321179:Q423R;ENSP00000386727:Q423R	ENSP00000321179:Q423R	Q	+	2	0	RBM44	238391566	0.007000	0.16637	0.181000	0.23098	0.008000	0.06430	1.752000	0.38349	2.241000	0.73720	0.482000	0.46254	CAG		0.368	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		G	238726827	A	G	238726827	3	3	228	1	0	0	0	0	1	0	0	0	13138	188	7	4	1274	4	RBM44	2	238726827	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	7620668	238726827	4472546	27	15935											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115967	15115967	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctctctgctgggctcCagctgaaaagggccgatttc	7	9	13	12	2	1	1	0	1	1	0	4	3	2	1	2	3	2	4	2	3	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:15115967C>A	ENST00000253699.3	-	14	2290	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	ZFYVE20_ENST00000476527.2_Silent_p.L559L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	559	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTGGGCTCCAGCTGAAAAG	0.572																																						uc003bzm.1																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1675-1677)ctG>ctT		Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.							58	58	58					3																	15115967		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115967C>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1677G>T	3.37:g.15115967C>A						ZFYVE20_uc010hek.1_Silent_p.L559L	p.L559L	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			13	2291	-			559			Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.1677G>T	CCDS2623.1																																																																																				0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		A	15115967	C	A	15115967	2	1	228	1	0	0	0	0	0	0	0	1	17663	581	21	5		5	ZFYVE20	3	15115967	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		15115967	182906463	28	15936											
DHX30	22907	broad.mit.edu	37	chr3	47888187	47888187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgggtatcctgctgcGtaagctgcagagcaacccca	9	8	11	13	1	0	1	0	0	0	1	1	1	1	1	3	1	6	6	3	1	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:47888187G>A	ENST00000445061.1	+	11	2032	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	DHX30_ENST00000457607.1_Missense_Mutation_p.R570H|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.R514H|DHX30_ENST00000446256.2_Missense_Mutation_p.R503H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	542	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTGCTGCGTAAGCTGCAG	0.627																																						uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1624-1626)cGt>cAt		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.							56	50	52					3																	47888187		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888187G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1625G>A	3.37:g.47888187G>A	ENSP00000405620:p.Arg542His					DHX30_uc003crt.3_Missense_Mutation_p.R503H|MIR1226_uc021wxj.1_5'Flank	p.R542H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	2051	+			542			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1625G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068221	0.76301	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.81	4.81	0.61882	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.118148	0.53938	D	0.000048	T	0.55114	0.1900	M	0.91872	3.25	0.42732	D	0.993711	D;D	0.89917	1.0;0.973	D;B	0.69307	0.963;0.368	T	0.63629	-0.6594	10	0.56958	D	0.05	.	10.511	0.44862	0.0889:0.0:0.9111:0.0	.	542;503	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	503;542;514;570	ENSP00000392601:R503H;ENSP00000405620:R542H;ENSP00000343442:R514H;ENSP00000394682:R570H	ENSP00000343442:R514H	R	+	2	0	DHX30	47863191	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	4.535000	0.60629	2.219000	0.72066	0.462000	0.41574	CGT		0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47888187	G	A	47888187	3	1	228	1	0	0	0	0	1	0	0	0	4504	1145	40	1	1670	1	DHX30	3	47888187	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	32772220	47888187	150134243	29	15937											
MST1	63891	broad.mit.edu	37	chr3	49724639	49724639	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagcagggtctgttgtgtAgcaccaaggacctccggggt	8	8	14	11	1	1	0	0	0	1	0	2	1	2	1	3	4	2	4	3	4	2	2	rs41291704		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:49724639A>G	ENST00000327697.6	+	0	0				MST1_ENST00000545762.1_Silent_p.A131A|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H|MST1_ENST00000449682.2_Missense_Mutation_p.Y184H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCTGTTGTGTAGCACCAAGGA	0.627																																						uc003cxg.3																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(550-552)Tac>Cac		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.							37	38	38					3																	49724639		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724639A>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724639A>G	Exception_encountered					MST1_uc011bcs.1_Missense_Mutation_p.Y184H|MST1_uc010hkx.2_Missense_Mutation_p.Y105H|MST1_uc011bct.1_Missense_Mutation_p.Y184H|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.Y184H	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	622	-			170			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.550T>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916533	0.92249	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.73681	-0.77;-0.77	6.08	6.08	0.98989	Kringle (4);Kringle-like fold (1);	0.000000	0.38436	N	0.001682	D	0.87047	0.6080	M	0.81341	2.54	0.80722	D	1	D;P;P	0.89917	1.0;0.926;0.667	D;P;P	0.97110	1.0;0.852;0.66	D	0.88267	0.2927	10	0.66056	D	0.02	.	16.6512	0.85203	1.0:0.0:0.0:0.0	rs41291704	170;170;184	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	H	184;109	ENSP00000414287:Y184H;ENSP00000373234:Y109H	ENSP00000373234:Y109H	Y	-	1	0	MST1	49699643	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.332000	0.96446	2.333000	0.79357	0.482000	0.46254	TAC		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		G	49724639	A	G	49724639	1	3	228	0	1	0	0	0	0	0	0	0	9890	420	15	4		4	MST1	3	49724639	5'Flank	SNP	A	TCGA-32-2491-01A-01D-1353-08	1836452	49724639	148297791	30	15938											
NEK4	6787	broad.mit.edu	37	chr3	52778291	52778291	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgactgctttagtcGcctcctctctctggctgata	4	16	8	13	1	2	2	0	2	2	0	6	2	4	2	3	1	1	2	3	1	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:52778291G>A	ENST00000233027.5	-	11	2060	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	NEK4_ENST00000383721.4_Nonsense_Mutation_p.R574*|NEK4_ENST00000535191.1_Nonsense_Mutation_p.R531*	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	620					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGCTTTAGTCGCCTCCTCTCT	0.413																																						uc003dfq.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1858-1860)Cga>Tga		Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.							212	208	209					3																	52778291		2203	4300	6503	SO:0001587	stop_gained	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52778291G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1858C>T	3.37:g.52778291G>A	ENSP00000233027:p.Arg620*					NEK4_uc011bej.2_Nonsense_Mutation_p.R531*|NEK4_uc003dfr.3_Nonsense_Mutation_p.R574*	p.R620*	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	10	2061	-			620					A5YM70|B2R633|B7Z200|Q6P576	Nonsense_Mutation	SNP	ENST00000233027.5	37	c.1858C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	39	7.882923	0.98542	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	.	.	.	6.17	4.24	0.50183	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6606	0.23012	0.0894:0.0:0.6592:0.2514	.	.	.	.	X	620;531;574;531	.	ENSP00000233027:R620X	R	-	1	2	NEK4	52753331	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.371000	0.44248	1.621000	0.50320	0.655000	0.94253	CGA		0.413	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		A	52778291	G	A	52778291	4	1	228	1	0	0	0	0	0	1	0	0	10326	1095	38	1	691	1	NEK4	3	52778291	Nonsense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	3053652	52778291	145244139	31	15939											
ACOX2	8309	broad.mit.edu	37	chr3	58510285	58510285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagagatctctgtggcGtggagccaggggacatctga	10	7	17	7	1	2	3	0	1	2	2	3	8	2	5	1	4	1	0	1	4	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58510285G>A	ENST00000302819.5	-	11	1685	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	ACOX2_ENST00000481527.1_5'Flank|ACOX2_ENST00000459701.2_Missense_Mutation_p.T451M	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	465					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTGTGGCGTGGAGCCAGG	0.617																																						uc003dkl.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1393-1395)aCg>aTg		Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.							88	79	82					3																	58510285		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58510285G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1394C>T	3.37:g.58510285G>A	ENSP00000307697:p.Thr465Met						p.T465M	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	10	1569	-			465					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1394C>T	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101656	0.20632	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.15139	2.46;2.45	4.85	2.97	0.34412	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	1.283950	0.05299	N	0.522624	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.42296	0.775	B	0.36666	0.23	T	0.24012	-1.0172	10	0.37606	T	0.19	-44.5598	6.526	0.22301	0.0957:0.0:0.7274:0.1769	.	465	Q99424	ACOX2_HUMAN	M	451;465	ENSP00000418562:T451M;ENSP00000307697:T465M	ENSP00000307697:T465M	T	-	2	0	ACOX2	58485325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.264000	0.18497	0.519000	0.28406	0.484000	0.47621	ACG		0.617	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			A	58510285	G	A	58510285	3	1	228	1	0	0	0	0	1	0	0	0	159	1145	40	1	671	1	ACOX2	3	58510285	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	5731994	58510285	139512145	32	15940											
C3orf67	200844	broad.mit.edu	37	chr3	58853638	58853638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttcttgagggggatgcGgatgcataatatgtagattg	10	13	15	3	1	1	2	0	1	1	1	1	4	1	4	0	4	2	3	0	4	3	6	rs141916956	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58853638G>A	ENST00000482387.1	-	6	761	c.665C>T	c.(664-666)cCg>cTg	p.P222L	RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.P222L|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Intron|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	222								p.P222L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGGGGATGCGGATGCATAAT	0.388																																						uc003dkt.1																			1	Substitution - Missense(1)	p.P222L(2)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(664-666)cCg>cTg		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	160	152	155		665	5.6	1	3	dbSNP_134	155	0,8600	1.2+/-3.3	0,0,4300	yes	missense	C3orf67	NM_198463.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	222/564	58853638	1,13005	2203	4300	6503	SO:0001583	missense	200844							g.chr3:58853638G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.665C>T	3.37:g.58853638G>A	ENSP00000417122:p.Pro222Leu					C3orf67_uc003dks.1_Missense_Mutation_p.P37L|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.P37L|C3orf67_uc003dkw.3_Intron	p.P222L	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	9	1074	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	222					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.665C>T		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680473	0.47886	2.27E-4	0.0	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.61274	0.12;0.12	5.57	5.57	0.84162	.	0.060788	0.64402	D	0.000003	T	0.59183	0.2175	M	0.71036	2.16	0.80722	D	1	D;D	0.55605	0.972;0.972	P;B	0.44447	0.45;0.286	T	0.66184	-0.5987	10	0.87932	D	0	-15.0891	11.5143	0.50511	0.0892:0.0:0.9108:0.0	.	222;222	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	222	ENSP00000295966:P222L;ENSP00000417122:P222L	ENSP00000295966:P222L	P	-	2	0	C3orf67	58828678	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	2.838000	0.48199	2.612000	0.88384	0.655000	0.94253	CCG		0.388	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		A	58853638	G	A	58853638	3	1	228	1	0	0	0	0	1	0	0	0	2241	1116	39	2	1054	2	C3orf67	3	58853638	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	343353	58853638	139168792	33	15941											
ZXDC	79364	broad.mit.edu	37	chr3	126160628	126160628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccagctggacctggaCgccctgcgccccgcactgca	6	5	11	19	3	0	0	0	0	0	0	0	2	0	2	5	2	4	4	5	2	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:126160628C>G	ENST00000389709.3	-	8	2427	c.2374G>C	c.(2374-2376)Gtc>Ctc	p.V792L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	792	Interaction with CIITA.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGACCTGGACGCCCTGCGCC	0.677																																						uc003eiv.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2374-2376)Gtc>Ctc		Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.							31	37	35					3																	126160628		2106	4213	6319	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126160628C>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2374G>C	3.37:g.126160628C>G	ENSP00000374359:p.Val792Leu					ZXDC_uc010hsh.3_Non-coding_Transcript	p.V792L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2428	-			792			Interaction with CIITA.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.2374G>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232929	0.09969	.	.	ENSG00000070476	ENST00000389709	T	0.18810	2.19	0.427	-0.854	0.10705	.	0.136701	0.48767	D	0.000175	T	0.14743	0.0356	L	0.54323	1.7	0.09310	N	1	B	0.29936	0.262	B	0.23419	0.046	T	0.12863	-1.0531	9	0.72032	D	0.01	-3.8613	.	.	.	.	792	Q2QGD7	ZXDC_HUMAN	L	792	ENSP00000374359:V792L	ENSP00000374359:V792L	V	-	1	0	ZXDC	127643318	0.721000	0.28007	0.007000	0.13788	0.002000	0.02628	-0.448000	0.06820	-0.657000	0.05373	-0.670000	0.03821	GTC		0.677	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		G	126160628	C	G	126160628	3	3	228	1	0	0	0	0	1	0	0	0	18249	536	19	5	214	5	ZXDC	3	126160628	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	67306990	126160628	71861802	34	15942											
TRIM42	287015	broad.mit.edu	37	chr3	140397352	140397352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactactatgagagccGctgctgccgcaataccatca	10	9	8	14	2	1	1	1	1	0	1	1	2	1	1	3	0	7	4	3	0	5	4	rs201174770		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:140397352G>A	ENST00000286349.3	+	1	472	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	94	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATGAGAGCCGCTGCTGCCGC	0.557																																						uc003eto.2																			0		p.R94C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(280-282)cGc>cAc		Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.		G	HIS/ARG	1,4397		0,1,2198	47	43	45		281	3.3	1	3		45	0,8566		0,0,4283	no	missense	TRIM42	NM_152616.4	29	0,1,6481	AA,AG,GG		0.0,0.0227,0.0077	benign	94/724	140397352	1,12963	2199	4283	6482	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397352G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.281G>A	3.37:g.140397352G>A	ENSP00000286349:p.Arg94His						p.R94H	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			0	487	+			94			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.281G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887234	0.33348	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.18657	2.2	5.15	3.34	0.38264	.	0.352176	0.21995	N	0.066088	T	0.10078	0.0247	N	0.08118	0	0.26995	N	0.965053	B	0.13594	0.008	B	0.08055	0.003	T	0.22068	-1.0227	10	0.34782	T	0.22	-40.4193	8.5861	0.33660	0.182:0.0:0.818:0.0	.	94	Q8IWZ5	TRI42_HUMAN	H	94	ENSP00000286349:R94H	ENSP00000286349:R94H	R	+	2	0	TRIM42	141880042	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.215000	0.32431	0.662000	0.31006	-0.136000	0.14681	CGC		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		A	140397352	G	A	140397352	3	1	228	1	0	0	0	0	1	0	0	0	16514	1087	38	1	283	1	TRIM42	3	140397352	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	14236724	140397352	57625078	35	15943											
CP	1356	broad.mit.edu	37	chr3	148901264	148901264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatacctagaattcccAgatgttcttcttcagctttt	10	17	4	10	0	3	2	1	0	2	2	4	2	4	2	2	0	3	2	2	0	4	9			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:148901264A>T	ENST00000264613.6	-	13	2676	c.2414T>A	c.(2413-2415)cTg>cAg	p.L805Q	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	805	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAGAATTCCCAGATGTTCTTC	0.398																																						uc003ewy.4																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2413-2415)cTg>cAg		Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	Drotrecogin alfa(DB00055)						135	120	125					3																	148901264		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148901264A>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2414T>A	3.37:g.148901264A>T	ENSP00000264613:p.Leu805Gln					CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.L586Q|CP_uc003ewz.3_Missense_Mutation_p.L805Q	p.L805Q	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2667	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	805			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2414T>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352806	0.82132	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99098	-5.42;-5.42	5.39	5.39	0.77823	Cupredoxin (2);	0.070970	0.56097	D	0.000027	D	0.99354	0.9773	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98871	1.0766	10	0.87932	D	0	-9.4362	15.4263	0.75055	1.0:0.0:0.0:0.0	.	805;805;805	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	Q	805;588	ENSP00000264613:L805Q;ENSP00000420545:L588Q	ENSP00000264613:L805Q	L	-	2	0	CP	150383954	1.000000	0.71417	0.931000	0.37212	0.824000	0.46624	8.781000	0.91805	2.041000	0.60428	0.454000	0.30748	CTG		0.398	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		T	148901264	A	T	148901264	3	4	228	1	0	0	0	0	1	0	0	0	3787	188	7	5	811	5	CP	3	148901264	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	8503912	148901264	49121166	36	15944											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		22	Substitution - Missense(22)	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Gtg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							97	87	91					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178952072	A	G	178952072	3	3	228	1	0	0	0	0	1	0	0	0	11913	101	4	4	3205	4	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	30050808	178952072	19070358	37	15945											
DRD5	1816	broad.mit.edu	37	chr4	9784905	9784905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatgatgcccaacgccGttacccccggcaaccgggag	9	5	10	17	4	0	1	0	1	0	0	1	2	1	2	6	2	4	2	6	2	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:9784905G>A	ENST00000304374.2	+	1	1648	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	418					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V418I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCCAACGCCGTTACCCCCGG	0.557																																						uc003gmb.4																			1	Substitution - Missense(1)	p.A417T(2)|p.V418I(2)	endometrium(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1252-1254)Gtt>Att		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						91	77	82					4																	9784905		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784905G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1252G>A	4.37:g.9784905G>A	ENSP00000306129:p.Val418Ile						p.V418I	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1648	+			418					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1252G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	7.016	0.557752	0.13436	.	.	ENSG00000169676	ENST00000304374	T	0.66995	-0.24	4.84	4.0	0.46444	.	0.543855	0.17367	N	0.176828	T	0.53110	0.1776	L	0.37630	1.12	0.43724	D	0.996208	B	0.28820	0.224	B	0.18561	0.022	T	0.47661	-0.9100	10	0.25751	T	0.34	.	12.3536	0.55163	0.0808:0.0:0.9192:0.0	.	418	P21918	DRD5_HUMAN	I	418	ENSP00000306129:V418I	ENSP00000306129:V418I	V	+	1	0	DRD5	9394003	1.000000	0.71417	0.015000	0.15790	0.006000	0.05464	6.188000	0.72045	1.274000	0.44362	0.460000	0.39030	GTT		0.557	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9784905	G	A	9784905	3	1	228	1	0	0	0	0	1	0	0	0	4760	1145	40	1	1254	1	DRD5	4	9784905	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		9784905	181369371	38	15946											
KLB	152831	broad.mit.edu	37	chr4	39408665	39408665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataggaatacaatgtccaaCgggggattgcaaagatctgt	14	10	11	6	1	1	1	0	0	1	1	2	3	2	3	1	3	3	1	1	3	7	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:39408665C>A	ENST00000257408.4	+	1	193	c.96C>A	c.(94-96)aaC>aaA	p.N32K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	32					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAATGTCCAACGGGGGATTGC	0.453																																						uc003gua.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(94-96)aaC>aaA		Homo sapiens klotho beta (KLB), mRNA.							95	90	92					4																	39408665		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39408665C>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.96C>A	4.37:g.39408665C>A	ENSP00000257408:p.Asn32Lys					KLB_uc011byj.2_Missense_Mutation_p.N32K	p.N32K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			0	193	+			32					Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.96C>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951992	0.18431	.	.	ENSG00000134962	ENST00000257408	T	0.26373	1.74	4.55	3.68	0.42216	.	1.527920	0.03436	N	0.208556	T	0.15955	0.0384	N	0.19112	0.55	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.15052	0.012;0.012	T	0.28364	-1.0046	10	0.06099	T	0.92	-5.3019	6.6457	0.22934	0.3206:0.5962:0.0:0.0832	.	32;32	B7ZL50;Q86Z14	.;KLOTB_HUMAN	K	32	ENSP00000257408:N32K	ENSP00000257408:N32K	N	+	3	2	KLB	39085060	0.004000	0.15560	0.009000	0.14445	0.960000	0.62799	1.475000	0.35409	0.983000	0.38602	0.467000	0.42956	AAC		0.453	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		A	39408665	C	A	39408665	3	1	228	1	0	0	0	0	1	0	0	0	8332	535	19	5	98	5	KLB	4	39408665	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	29623760	39408665	151745611	39	15947											
FRAS1	80144	broad.mit.edu	37	chr4	79173649	79173649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctgtcatgtggacaccAggagctggcattcatccctg	8	9	11	13	1	2	0	2	0	0	0	3	2	3	2	3	3	1	3	3	3	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:79173649A>G	ENST00000325942.6	+	5	853	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	FRAS1_ENST00000264899.6_Missense_Mutation_p.Q138R|FRAS1_ENST00000264895.6_Missense_Mutation_p.Q138R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	138	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGACACCAGGAGCTGGCA	0.562																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(412-414)cAg>cGg		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							81	83	82					4																	79173649		1957	4145	6102	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79173649A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.413A>G	4.37:g.79173649A>G	ENSP00000326330:p.Gln138Arg					FRAS1_uc003hkw.3_Missense_Mutation_p.Q138R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	p.Q138R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			4	853	+			138			VWFC 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.413A>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.39|10.39	1.336785|1.336785	0.24253|0.24253	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674|ENST00000502446	T;T;T|.	0.72505|.	-0.66;-0.66;-0.66|.	5.5|5.5	0.471|0.471	0.16752|0.16752	.|.	0.758999|.	0.12548|.	N|.	0.459354|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.52126|0.52126	1.63|1.63	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.002;0.003|.	B;B|.	0.15052|.	0.008;0.012|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|5	0.23891|.	T|.	0.37|.	.|.	8.859|8.859	0.35245|0.35245	0.5573:0.0:0.4427:0.0|0.5573:0.0:0.4427:0.0	.|.	138;138|.	E9PHH6;A2RRR8|.	.;.|.	R|G	138|67	ENSP00000326330:Q138R;ENSP00000264895:Q138R;ENSP00000264899:Q138R|.	ENSP00000264895:Q138R|.	Q|R	+|+	2|1	0|2	FRAS1|FRAS1	79392673|79392673	0.021000|0.021000	0.18746|0.18746	0.685000|0.685000	0.30070|0.30070	0.539000|0.539000	0.34962|0.34962	0.701000|0.701000	0.25616|0.25616	0.136000|0.136000	0.18733|0.18733	0.528000|0.528000	0.53228|0.53228	CAG|AGG		0.562	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	79173649	A	G	79173649	3	3	228	1	0	0	0	0	1	0	0	0	6042	188	7	4	431	4	FRAS1	4	79173649	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	39764984	79173649	111980627	40	15948											
CENPE	1062	broad.mit.edu	37	chr4	104117134	104117134	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtataactcccaaatgatcTtctgaacccatcatggtata	13	12	6	10	0	3	2	1	2	2	0	4	2	4	2	2	2	2	2	2	2	6	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:104117134T>C	ENST00000265148.3	-	4	389	c.300A>G	c.(298-300)gaA>gaG	p.E100E	CENPE_ENST00000380026.3_Silent_p.E100E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	100	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCAAATGATCTTCTGAACCCA	0.348																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(298-300)gaA>gaG		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							113	106	108					4																	104117134		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104117134T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.300A>G	4.37:g.104117134T>C						CENPE_uc003hxc.1_Silent_p.E100E	p.E100E	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	3	390	-			100			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.300A>G	CCDS34042.1																																																																																				0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104117134	T	C	104117134	2	2	228	1	0	0	0	0	0	0	0	1	3230	1606	56	4		4	CENPE	4	104117134	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	24943485	104117134	87037142	41	15949											
PRSS12	8492	broad.mit.edu	37	chr4	119239641	119239641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctcattcccagtgcagcGtacttcatccaacataactg	12	10	6	13	1	2	0	2	0	0	0	4	0	4	0	2	0	6	3	2	0	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:119239641G>A	ENST00000296498.3	-	5	1324	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	348	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGTGCAGCGTACTTCATCC	0.478																																						uc003ica.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1042-1044)Cgc>Tgc		Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.							104	98	100					4																	119239641		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119239641G>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1042C>T	4.37:g.119239641G>A	ENSP00000296498:p.Arg348Cys						p.R348C	NM_003619	NP_003610	P56730	NETR_HUMAN			4	1089	-			348			SRCR 2.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1042C>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866107	0.71949	.	.	ENSG00000164099	ENST00000296498	T	0.44881	0.91	5.86	5.01	0.66863	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.372411	0.28262	N	0.015998	T	0.70369	0.3216	M	0.92604	3.325	0.23416	N	0.99772	D	0.76494	0.999	D	0.63033	0.91	T	0.69694	-0.5076	10	0.49607	T	0.09	.	16.3212	0.82951	0.0:0.0:0.8666:0.1334	.	348	P56730	NETR_HUMAN	C	348	ENSP00000296498:R348C	ENSP00000296498:R348C	R	-	1	0	PRSS12	119459089	0.996000	0.38824	0.196000	0.23383	0.955000	0.61496	7.502000	0.81614	1.460000	0.47911	0.591000	0.81541	CGC		0.478	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			A	119239641	G	A	119239641	3	1	228	1	0	0	0	0	1	0	0	0	12615	1145	40	1	1621	1	PRSS12	4	119239641	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	15122507	119239641	71914635	42	15950											
TLL1	7092	broad.mit.edu	37	chr4	166910622	166910622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttacgcagaacccctttGgaaaccttggacataccaca	13	8	6	14	1	0	1	0	0	0	1	0	3	0	3	5	2	4	1	5	2	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:166910622G>A	ENST00000061240.2	+	2	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_ENST00000513213.1_Missense_Mutation_p.G87R|TLL1_ENST00000507499.1_Missense_Mutation_p.G87R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	87					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACCCCTTTGGAAACCTTGG	0.333																																						uc003irh.2																			0		p.G87E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(259-261)Gga>Aga		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							111	116	114					4																	166910622		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166910622G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.259G>A	4.37:g.166910622G>A	ENSP00000061240:p.Gly87Arg					TLL1_uc021xud.1_Missense_Mutation_p.G87R|TLL1_uc011cjn.2_Missense_Mutation_p.G87R|TLL1_uc011cjo.2_5'UTR	p.G87R	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	1	906	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	87					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.259G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015557	0.54468	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.57107	0.56;0.48;0.42	5.36	5.36	0.76844	.	0.390743	0.26010	U	0.026885	T	0.40171	0.1106	N	0.25647	0.755	0.40468	D	0.980318	B;B	0.34103	0.437;0.181	B;B	0.30572	0.117;0.05	T	0.26985	-1.0087	10	0.14656	T	0.56	.	19.0659	0.93110	0.0:0.0:1.0:0.0	.	87;87	E9PD25;O43897	.;TLL1_HUMAN	R	87	ENSP00000061240:G87R;ENSP00000426082:G87R;ENSP00000422937:G87R	ENSP00000061240:G87R	G	+	1	0	TLL1	167130072	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.791000	0.69045	2.518000	0.84900	0.655000	0.94253	GGA		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			A	166910622	G	A	166910622	3	1	228	1	0	0	0	0	1	0	0	0	15942	1349	47	3	265	3	TLL1	4	166910622	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	47670981	166910622	24243654	43	15951											
ENPP6	133121	broad.mit.edu	37	chr4	185018423	185018423	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaaggccaggaagatgccCcgcatgtccatgagctcgtt	9	7	12	13	3	0	2	0	1	0	1	2	4	1	3	5	2	2	3	5	2	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:185018423C>G	ENST00000296741.2	-	7	1233	c.1092G>C	c.(1090-1092)cgG>cgC	p.R364R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	364					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGAAGATGCCCCGCATGTCCA	0.587																																						uc003iwc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1090-1092)cgG>cgC		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.							118	99	105					4																	185018423		2203	4300	6503	SO:0001819	synonymous_variant	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185018423C>G	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1092G>C	4.37:g.185018423C>G							p.R364R	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	6	1234	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	364					Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	c.1092G>C	CCDS3834.1																																																																																				0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		G	185018423	C	G	185018423	2	3	228	1	0	0	0	0	0	0	0	1	5134	610	22	5		5	ENPP6	4	185018423	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	18107801	185018423	6135853	44	15952											
PRDM9	56979	broad.mit.edu	37	chr5	23527861	23527861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggggagaagccctaCgtctgcagggaggatgagta	12	5	15	9	1	1	2	0	1	1	1	1	5	1	4	1	4	3	2	1	4	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:23527861C>T	ENST00000296682.3	+	11	2846	c.2664C>T	c.(2662-2664)taC>taT	p.Y888Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	888					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2662-2664)taC>taT		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							57	65	62					5																	23527861		2173	4292	6465	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527861C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2664C>T	5.37:g.23527861C>T		HNSCC(3;0.000094)					p.Y888Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	2846	+			888					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2664C>T	CCDS43307.1																																																																																				0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527861	C	T	23527861	2	4	228	1	0	0	0	0	0	0	0	1	12463	547	19	1		1	PRDM9	5	23527861	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		23527861	157387399	45	15953											
FAM170A	340069	broad.mit.edu	37	chr5	118970068	118970068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccaggctcacccaccGttgaggacacacccagagcc	9	4	10	18	1	1	2	1	1	0	1	1	3	1	3	6	2	2	2	6	2	0	1	rs369994686		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:118970068G>A	ENST00000515256.1	+	3	797	c.625G>A	c.(625-627)Gtt>Att	p.V209I				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	209					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCACCCACCGTTGAGGACAC	0.587													G|||	1	0.000199681	0	0	5008	,	,		20392	0.001		0	False		,,,				2504	0					uc003ksm.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(625-627)Gtt>Att		Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL	1,4209		0,1,2104	91	99	96		625,484	1.5	0	5		96	0,8466		0,0,4233	no	missense,missense	FAM170A	NM_182761.3,NM_001163991.1	29,29	0,1,6337	AA,AG,GG		0.0,0.0238,0.0079	benign,benign	209/330,162/283	118970068	1,12675	2105	4233	6338	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970068G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.625G>A	5.37:g.118970068G>A	ENSP00000422684:p.Val209Ile					FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.V209I|FAM170A_uc003kso.3_Missense_Mutation_p.V162I	p.V209I	NM_182761	NP_877438	A1A519	F170A_HUMAN			2	835	+			209					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553828	0.03996	2.38E-4	0.0	ENSG00000164334	ENST00000296787;ENST00000515256	T	0.35789	1.29	4.35	1.49	0.22878	.	0.963086	0.08539	N	0.930926	T	0.34513	0.0900	M	0.64997	1.995	0.09310	N	1	B;B	0.25007	0.086;0.116	B;B	0.15484	0.008;0.013	T	0.25710	-1.0124	9	.	.	.	-3.1073	10.1819	0.42972	0.0:0.0:0.4686:0.5314	.	162;209	D6RIE9;A1A519	.;F170A_HUMAN	I	162;209	ENSP00000422684:V209I	.	V	+	1	0	FAM170A	118997967	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.414000	0.21164	0.320000	0.23234	-0.181000	0.13052	GTT		0.587	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		A	118970068	G	A	118970068	3	1	228	1	0	0	0	0	1	0	0	0	5489	1145	40	1	635	1	FAM170A	5	118970068	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	95442207	118970068	61945192	46	15954											
PCDHA7	56141	broad.mit.edu	37	chr5	140215694	140215694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggtggcactggtggcGcagtgagagagcttgtgccg	5	8	21	7	2	0	2	0	1	0	1	0	3	0	2	1	5	2	3	1	5	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140215694G>A	ENST00000525929.1	+	1	1726	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A576T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	576					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGTGGCGCAGTGAGAGA	0.662																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1726-1728)Gca>Aca		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							95	97	96					5																	140215694		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140215694G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1726G>A	5.37:g.140215694G>A	ENSP00000436426:p.Ala576Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A576T	p.A576T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1726	+			589			Cadherin 5.		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1726G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.242	-0.620930	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.37235	1.21;1.21	4.2	-4.94	0.03057	Cadherin-like (1);	0.839395	0.09050	U	0.855921	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B;B	0.21452	0.056;0.043	B;B	0.15870	0.014;0.009	T	0.26573	-1.0099	10	0.17832	T	0.49	.	2.885	0.05659	0.1511:0.3407:0.3221:0.186	.	576;576	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	576	ENSP00000436426:A576T;ENSP00000367365:A576T	ENSP00000367365:A576T	A	+	1	0	PCDHA7	140195878	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.168000	0.09925	-0.652000	0.05408	0.462000	0.41574	GCA		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215694	G	A	140215694	3	1	228	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1728	1	PCDHA7	5	140215694	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21245626	140215694	40699566	47	15955											
PCDHA8	56140	broad.mit.edu	37	chr5	140221979	140221979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacttccttatccttgcCtgtacgtgaagacgctcaat	9	13	7	12	2	1	3	1	2	0	1	3	3	3	3	3	0	2	2	3	0	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140221979C>G	ENST00000531613.1	+	1	1073	c.1073C>G	c.(1072-1074)cCt>cGt	p.P358R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P358R|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	358	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCCTTGCCTGTACGTGAA	0.502																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1072-1074)cCt>cGt		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							98	90	93					5																	140221979		2202	4279	6481	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140221979C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1073C>G	5.37:g.140221979C>G	ENSP00000434655:p.Pro358Arg					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P358R	p.P358R	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1073	+			373			Cadherin 3.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1073C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320546	0.60634	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01685	4.69;4.69	3.57	3.57	0.40892	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002507	T	0.07143	0.0181	L	0.48935	1.535	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.03717	-1.1010	10	0.87932	D	0	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	358;358	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	R	358	ENSP00000434655:P358R;ENSP00000367363:P358R	ENSP00000367363:P358R	P	+	2	0	PCDHA8	140202163	0.000000	0.05858	0.013000	0.15412	0.713000	0.41058	0.633000	0.24598	1.709000	0.51313	0.306000	0.20318	CCT		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		G	140221979	C	G	140221979	3	3	228	1	0	0	0	0	1	0	0	0	11530	681	24	5	1075	5	PCDHA8	5	140221979	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	6285	140221979	40693281	48	15956											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720522	140720522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccactgtcacgctcaccGtggccgtggccgacaggatc	6	6	12	17	5	2	0	2	0	0	0	3	2	2	1	5	3	0	1	5	3	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720522G>A	ENST00000394576.2	+	1	1984	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCTCACCGTGGCCGTGGC	0.682																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1984-1986)Gtg>Atg		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							32	40	37					5																	140720522		2198	4277	6475	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720522G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1984G>A	5.37:g.140720522G>A	ENSP00000378077:p.Val662Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V662M	p.V662M	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2169	+			664			Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1984G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.308036	0.23821	.	.	ENSG00000081853	ENST00000394576	T	0.69685	-0.42	5.14	3.24	0.37175	Cadherin (4);Cadherin-like (1);	0.233417	0.22147	U	0.063976	T	0.80742	0.4681	M	0.93150	3.385	0.21105	N	0.999789	D;D	0.65815	0.975;0.995	P;P	0.59948	0.693;0.866	T	0.72027	-0.4414	10	0.66056	D	0.02	.	4.926	0.13894	0.2063:0.1721:0.6216:0.0	.	662;662	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	662	ENSP00000378077:V662M	ENSP00000378077:V662M	V	+	1	0	PCDHGA2	140700706	0.001000	0.12720	0.175000	0.22980	0.002000	0.02628	-0.103000	0.10940	0.591000	0.29711	-0.350000	0.07774	GTG		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140720522	G	A	140720522	3	1	228	1	0	0	0	0	1	0	0	0	11554	1145	40	1	1986	1	PCDHGA2	5	140720522	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	498543	140720522	40194738	49	15957											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720558	140720558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatccccgacatcctggccGacctgggcagcctcgagccc	6	5	12	18	3	0	0	0	0	0	0	3	4	2	1	7	3	2	1	7	3	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720558G>A	ENST00000394576.2	+	1	2020	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	674	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTGGCCGACCTGGGCAG	0.687																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2020-2022)Gac>Aac		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							58	66	63					5																	140720558		2203	4298	6501	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720558G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2020G>A	5.37:g.140720558G>A	ENSP00000378077:p.Asp674Asn					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D674N	p.D674N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2205	+			676			Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2020G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.050714	0.36181	.	.	ENSG00000081853	ENST00000394576	T	0.49432	0.78	5.05	5.05	0.67936	Cadherin (1);	0.000000	0.43110	U	0.000607	T	0.48259	0.1490	M	0.72479	2.2	0.29751	N	0.836344	P;P	0.46277	0.467;0.875	B;B	0.39738	0.233;0.308	T	0.61033	-0.7144	10	0.87932	D	0	.	14.1042	0.65078	0.0:0.1507:0.8492:0.0	.	674;674	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	674	ENSP00000378077:D674N	ENSP00000378077:D674N	D	+	1	0	PCDHGA2	140700742	1.000000	0.71417	0.923000	0.36655	0.222000	0.24845	5.029000	0.64121	2.532000	0.85374	0.485000	0.47835	GAC		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140720558	G	A	140720558	3	1	228	1	0	0	0	0	1	0	0	0	11554	1058	37	2	2022	2	PCDHGA2	5	140720558	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	36	140720558	40194702	50	15958											
TBC1D9B	23061	broad.mit.edu	37	chr5	179318430	179318430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctccttgctggcgaaGcagatgtagttgttggagat	7	13	12	9	1	0	2	0	0	0	2	3	4	3	2	3	2	2	5	3	2	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:179318430G>A	ENST00000356834.3	-	6	1030	c.993C>T	c.(991-993)tgC>tgT	p.C331C	TBC1D9B_ENST00000355235.3_Silent_p.C331C	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	331	GRAM 2.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGGCGAAGCAGATGTAGT	0.592																																						uc003mlh.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(991-993)tgC>tgT		Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.							132	124	127					5																	179318430		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179318430G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.993C>T	5.37:g.179318430G>A						TBC1D9B_uc003mli.3_Silent_p.C331C|TBC1D9B_uc003mlj.3_Silent_p.C331C	p.C331C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1028	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	331			GRAM 2.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.993C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259888	0.23051	.	.	ENSG00000197226	ENST00000524222	.	.	.	5.09	3.32	0.38043	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54483	-0.8287	4	.	.	.	-30.7759	9.6842	0.40089	0.2815:0.0:0.7185:0.0	.	.	.	.	V	61	.	.	A	-	2	0	TBC1D9B	179251036	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.063000	0.49978	0.744000	0.32741	0.655000	0.94253	GCT		0.592	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		A	179318430	G	A	179318430	2	1	228	1	0	0	0	0	0	0	0	1	15625	963	34	3		3	TBC1D9B	5	179318430	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	38597872	179318430	1596830	51	15959											
DSP	1832	broad.mit.edu	37	chr6	7582878	7582878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcaattccaggcaTctaataggattcaggaatca	12	14	6	9	0	6	0	3	0	3	0	7	2	7	2	1	3	0	1	1	3	4	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:7582878T>C	ENST00000379802.3	+	24	5724	c.5383T>C	c.(5383-5385)Tct>Cct	p.S1795P	DSP_ENST00000418664.2_Missense_Mutation_p.S1196P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1795	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCCAGGCATCTAATAGGAT	0.353																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5383-5385)Tct>Cct		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							73	79	77					6																	7582878		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7582878T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5383T>C	6.37:g.7582878T>C	ENSP00000369129:p.Ser1795Pro					DSP_uc003mxq.1_Missense_Mutation_p.S1196P|DSP_uc021yle.1_Missense_Mutation_p.S1352P	p.S1795P	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5662	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1795			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5383T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954250	0.73902	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.64803	-0.12;-0.12	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000020	T	0.63792	0.2541	L	0.46157	1.445	0.25563	N	0.98698	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.60332	-0.7284	10	0.40728	T	0.16	.	15.3636	0.74503	0.0:0.0:0.0:1.0	.	1243;1795	Q4LE79;P15924	.;DESP_HUMAN	P	1795;1196	ENSP00000369129:S1795P;ENSP00000396591:S1196P	ENSP00000369129:S1795P	S	+	1	0	DSP	7527877	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.864000	0.69575	2.026000	0.59711	0.533000	0.62120	TCT		0.353	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		C	7582878	T	C	7582878	3	2	228	1	0	0	0	0	1	0	0	0	4781	1435	50	4	5477	4	DSP	6	7582878	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08		7582878	163532189	52	15960											
PHACTR1	221692	broad.mit.edu	37	chr6	13278556	13278556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaagaggaggctaaccCgaaaggtaggtggttctcca	13	7	13	8	1	2	2	1	0	1	2	3	4	2	3	2	5	1	3	2	5	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:13278556C>G	ENST00000379335.3	+	2	301	c.196C>G	c.(196-198)Cga>Gga	p.R66G	PHACTR1_ENST00000457702.2_Missense_Mutation_p.R357G|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R66G|RP1-257A7.4_ENST00000606150.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R502G			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	502					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGCTAACCCGAAAGGTAGG	0.507																																						uc003nah.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1504-1506)Cga>Gga		Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.							43	51	48					6																	13278556		2002	4165	6167	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13278556C>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.196C>G	6.37:g.13278556C>G	ENSP00000368639:p.Arg66Gly					PHACTR1_uc010jpc.3_Missense_Mutation_p.R502G|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron	p.R502G	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		11	1877	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	502					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379335.3	37	c.1504C>G		.	.	.	.	.	.	.	.	.	.	C	19.91	3.913830	0.72983	.	.	ENSG00000112137	ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	T;T	0.38401	1.14;1.16	4.94	4.94	0.65067	.	0.054449	0.64402	D	0.000001	T	0.57577	0.2063	M	0.85197	2.74	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.65903	-0.6055	10	0.87932	D	0	-7.2722	17.5133	0.87766	0.0:1.0:0.0:0.0	.	502	Q9C0D0	PHAR1_HUMAN	G	502;357;66;66	ENSP00000329880:R502G;ENSP00000397669:R357G	ENSP00000329880:R502G	R	+	1	2	PHACTR1	13386535	0.955000	0.32602	0.991000	0.47740	0.984000	0.73092	1.918000	0.40006	2.440000	0.82611	0.563000	0.77884	CGA		0.507	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		G	13278556	C	G	13278556	3	3	228	1	0	0	0	0	1	0	0	0	11809	644	23	5	1542	5	PHACTR1	6	13278556	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5695678	13278556	157836511	53	15961											
BAT1	7919	broad.mit.edu	37	chr6	31508154	31508154	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccggagcaactctggcttGagcaggaagtcacgaaagcc	11	5	13	12	2	2	1	1	1	1	0	2	4	2	3	2	3	4	3	2	3	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31508154G>C	ENST00000396172.1	-	2	786	c.156C>G	c.(154-156)ctC>ctG	p.L52L	DDX39B_ENST00000453105.2_Nonsense_Mutation_p.S48*|DDX39B_ENST00000376177.2_Silent_p.L52L|DDX39B_ENST00000415382.2_Nonsense_Mutation_p.S48*|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000417556.2_Silent_p.L52L|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000458640.1_Silent_p.L52L|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000449074.2_Silent_p.L52L|SNORD84_ENST00000584275.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	52					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACTCTGGCTTGAGCAGGAAGT	0.547																																						uc003ntt.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(154-156)ctC>ctG		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.							70	70	70					6																	31508154		2203	4300	6503	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508154G>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.156C>G	6.37:g.31508154G>C						DDX39B_uc003ntu.3_Silent_p.L52L|DDX39B_uc011dnn.2_Nonsense_Mutation_p.S48*|DDX39B_uc003ntv.3_Silent_p.L52L|DDX39B_uc003ntw.2_Silent_p.L52L|DDX39B_uc003ntx.2_Silent_p.L52L|DDX39B_uc011dno.1_Nonsense_Mutation_p.S48*|DDX39B_uc011dnp.1_Nonsense_Mutation_p.S48*|DDX39B_uc011dnq.1_Non-coding_Transcript	p.L52L	NM_004640	NP_542165	Q13838	DX39B_HUMAN			1	814	-			52					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.156C>G	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	G	36	5.902038	0.97087	.	.	ENSG00000198563	ENST00000415382;ENST00000431908;ENST00000453105	.	.	.	5.53	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.4402	6.5631	0.22497	0.1774:0.297:0.5256:0.0	.	.	.	.	X	48	.	ENSP00000392669:S48X	S	-	2	0	DDX39B	31616133	0.941000	0.31946	1.000000	0.80357	0.998000	0.95712	-0.154000	0.10130	0.661000	0.30985	0.563000	0.77884	TCA		0.547	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		C	31508154	G	C	31508154	2	2	228	1	0	0	0	0	0	0	0	1	1318	1277	45	5		5	BAT1	6	31508154	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	18229598	31508154	139606913	54	15962											
SKIV2L	6499	broad.mit.edu	37	chr6	31933760	31933760	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaagggccgagtgccCgagatggcagacctgcaccg	8	5	14	14	3	1	2	0	0	1	2	1	4	1	2	4	2	3	3	4	2	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31933760C>A	ENST00000375394.2	+	18	2285	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SKIV2L_ENST00000544581.1_Silent_p.P531P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	724	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCGAGTGCCCGAGATGGCAG	0.652																																						uc003nyn.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(2170-2172)ccC>ccA		Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.							26	22	23					6																	31933760		1509	2708	4217	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31933760C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2172C>A	6.37:g.31933760C>A						SKIV2L_uc011dou.1_Silent_p.P566P|SKIV2L_uc011dov.1_Silent_p.P531P	p.P724P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			17	2561	+			724			Helicase C-terminal.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.2172C>A	CCDS4731.1																																																																																				0.652	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31933760	C	A	31933760	2	1	228	1	0	0	0	0	0	0	0	1	14359	639	23	5		5	SKIV2L	6	31933760	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	425606	31933760	139181307	55	15963											
C6orf168	84553	broad.mit.edu	37	chr6	99729047	99729047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggctggacgtcacttgCactgttcgtggtctgtatag	6	13	14	8	2	2	1	1	1	1	0	3	2	2	2	0	3	1	4	0	3	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:99729047C>A	ENST00000389677.5	-	6	1505	c.1223G>T	c.(1222-1224)tGc>tTc	p.C408F	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.C128F	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	408						integral component of membrane (GO:0016021)											ACGTCACTTGCACTGTTCGTG	0.517																																						uc003ppj.4																			0											c.(1222-1224)tGc>tTc		Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.							137	136	136					6																	99729047		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99729047C>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1223G>T	6.37:g.99729047C>A	ENSP00000374328:p.Cys408Phe					FAXC_uc003ppi.4_Missense_Mutation_p.C128F	p.C408F	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN			5	1506	-			408					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.1223G>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140373	0.56936	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.33	5.33	0.75918	.	0.238980	0.43110	D	0.000617	T	0.38904	0.1058	N	0.24115	0.695	0.50467	D	0.999876	B	0.32160	0.358	B	0.36186	0.219	T	0.49790	-0.8902	9	0.87932	D	0	-19.051	19.0493	0.93036	0.0:1.0:0.0:0.0	.	408	Q5TGI0	CF168_HUMAN	F	408;128	.	ENSP00000374328:C408F	C	-	2	0	C6orf168	99835768	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.697000	0.54764	2.490000	0.84030	0.655000	0.94253	TGC		0.517	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		A	99729047	C	A	99729047	3	1	228	1	0	0	0	0	1	0	0	0	2343	710	25	5	10	5	C6orf168	6	99729047	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	67795287	99729047	71386020	56	15964											
BCLAF1	9774	broad.mit.edu	37	chr6	136597032	136597032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagtttgacttcaggaCggtgagaatcactcgctatc	9	14	10	8	2	2	3	2	3	0	1	4	5	2	4	0	2	0	2	0	2	2	5	rs368236501		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:136597032C>T	ENST00000531224.1	-	5	1883	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R542H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R542H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R544H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R542H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R371H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	544					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R544H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GACTTCAGGACGGTGAGAATC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)	p.R544H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1630-1632)cGt>cAt		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	202	198	199		1625,1112,1631	5.5	1	6		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	542/870,371/748,544/921	136597032	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597032C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1631G>A	6.37:g.136597032C>T	ENSP00000435210:p.Arg544His					BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H	p.R544H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1884	-	Colorectal(23;0.24)		544					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1631G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950944	0.34471	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.03263	0.0095	N	0.08118	0	0.80722	D	1	B;P;B;B	0.35481	0.364;0.504;0.364;0.414	B;B;B;B	0.26693	0.032;0.032;0.032;0.072	T	0.36040	-0.9764	10	0.62326	D	0.03	-6.6411	14.5891	0.68351	0.146:0.854:0.0:0.0	.	542;542;544;371	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	544;542;544;371;542;542;544	ENSP00000435210:R544H;ENSP00000229446:R542H;ENSP00000435441:R544H;ENSP00000436501:R371H;ENSP00000434826:R542H;ENSP00000376159:R542H;ENSP00000431734:R544H	ENSP00000229446:R542H	R	-	2	0	BCLAF1	136638725	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.070000	0.50033	2.747000	0.94245	0.460000	0.39030	CGT		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136597032	C	T	136597032	3	4	228	1	0	0	0	0	1	0	0	0	1383	536	19	1	1167	1	BCLAF1	6	136597032	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	36867985	136597032	34518035	57	15965											
SYNE1	23345	broad.mit.edu	37	chr6	152685991	152685991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttccctcaccttttacaaCgaatccctgcagacaaaagg	12	10	6	13	1	1	1	1	0	0	1	3	2	3	1	3	1	3	2	3	1	5	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:152685991C>T	ENST00000367255.5	-	63	10737	c.10136G>A	c.(10135-10137)cGt>cAt	p.R3379H	SYNE1_ENST00000448038.1_Missense_Mutation_p.R3386H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3418H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3379H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3386H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3379					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTTTACAACGAATCCCTGC	0.468										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10135-10137)cGt>cAt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							118	117	117					6																	152685991		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152685991C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10136G>A	6.37:g.152685991C>T	ENSP00000356224:p.Arg3379His	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.R3386H|SYNE1_uc003qou.4_Missense_Mutation_p.R3379H|SYNE1_uc010kja.2_Missense_Mutation_p.R84H	p.R3379H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	60	10359	-		Ovarian(120;0.0955)	3379					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10136G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319856	0.41096	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53206	1.33;1.33;1.33;1.33;0.63	5.28	5.28	0.74379	.	0.113007	0.41396	D	0.000892	T	0.22166	0.0534	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.25850	0.084;0.084;0.084;0.136	B;B;B;B	0.15870	0.006;0.006;0.006;0.014	T	0.17137	-1.0379	10	0.44086	T	0.13	.	6.8796	0.24166	0.0:0.785:0.0:0.215	.	3379;3379;3379;3386	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	3379;3386;3379;3386;3418	ENSP00000356224:R3379H;ENSP00000396024:R3386H;ENSP00000265368:R3379H;ENSP00000390975:R3386H;ENSP00000341887:R3418H	ENSP00000265368:R3379H	R	-	2	0	SYNE1	152727684	1.000000	0.71417	0.804000	0.32291	0.973000	0.67179	3.774000	0.55341	2.466000	0.83321	0.655000	0.94253	CGT		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152685991	C	T	152685991	3	4	228	1	0	0	0	0	1	0	0	0	15442	536	19	1	16666	1	SYNE1	6	152685991	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	16088959	152685991	18429076	58	15966											
INMT	11185	broad.mit.edu	37	chr7	30795056	30795056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggccgatgggaggagaaGgaggagaagctgcgggcagc	11	2	21	7	3	0	2	0	0	0	2	0	7	0	4	1	6	4	2	1	6	2	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:30795056G>A	ENST00000013222.5	+	3	397	c.381G>A	c.(379-381)aaG>aaA	p.K127K	INMT_ENST00000409539.1_Silent_p.K126K|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	127					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGAGGAGAAGGAGGAGAAGC	0.637																																						uc003tbs.1																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						c.(379-381)aaG>aaA		Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.							23	22	23					7																	30795056		2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30795056G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.381G>A	7.37:g.30795056G>A						FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.K126K	p.K127K	NM_006774	NP_006765	O95050	INMT_HUMAN			2	397	+			127					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.381G>A	CCDS5430.1																																																																																				0.637	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		A	30795056	G	A	30795056	2	1	228	1	0	0	0	0	0	0	0	1	7745	991	35	3		3	INMT	7	30795056	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		30795056	128343607	59	15967											
SEPT7	989	broad.mit.edu	37	chr7	35872442	35872442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggctatgtgggatttgCcaatctcccaaatcaagtat	12	12	9	8	0	2	1	1	1	1	0	3	2	2	2	2	2	1	2	2	2	6	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:35872442C>T	ENST00000399034.2	+	3	297	c.104C>T	c.(103-105)gCc>gTc	p.A35V	SEPT7_ENST00000494488.2_Missense_Mutation_p.A20V|SEPT7_ENST00000350320.6_Missense_Mutation_p.A33V|SEPT7_ENST00000399035.3_Missense_Mutation_p.A33V|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.A33V			Q16181	SEPT7_HUMAN	septin 7	34					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GTGGGATTTGCCAATCTCCCA	0.363																																						uc010kxc.3																			0		p.V32G(1)|p.V32V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(94-96)gCc>gTc		Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.							162	155	157					7																	35872442		1833	4088	5921	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35872442C>T	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000399034.2:c.104C>T	7.37:g.35872442C>T	ENSP00000381992:p.Ala35Val					SEPT7_uc011kat.2_Missense_Mutation_p.A32V|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	p.A32V	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			1	319	+			34					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000399034.2	37	c.95C>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.827597	0.90955	.	.	ENSG00000122545	ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000494488	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.58	5.58	0.84498	.	0.068988	0.56097	U	0.000025	T	0.55097	0.1899	M	0.65677	2.01	0.80722	D	1	D;D	0.63046	0.979;0.992	P;P	0.57101	0.813;0.813	T	0.56998	-0.7886	10	0.66056	D	0.02	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	33;34	E7EPK1;Q16181	.;SEPT7_HUMAN	V	35;33;33;33;20	ENSP00000381992:A35V;ENSP00000344868:A33V;ENSP00000444501:A33V;ENSP00000381993:A33V;ENSP00000438395:A20V	ENSP00000344868:A33V	A	+	2	0	SEPT7	35838967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GCC		0.363	SEPT7-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001788		T	35872442	C	T	35872442	3	4	228	1	0	0	0	0	1	0	0	0	14069	739	26	3	105	3	SEPT7	7	35872442	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5077386	35872442	123266221	60	15968											
COL1A2	1278	broad.mit.edu	37	chr7	94034005	94034005	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acattctttttttcttttagGgccctcaaggtttccaagga	8	17	7	9	0	3	0	1	0	2	0	4	1	4	1	2	3	0	1	2	3	3	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:94034005G>T	ENST00000297268.6	+	8	796	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	109					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTCTTTTAGGGCCCTCAAGG	0.403										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e8-1		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						90	99	96					7																	94034005		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94034005G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.325-1G>T	7.37:g.94034005G>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Splice_Site_p.G109_splice|COL1A2_uc022ahm.1_Splice_Site|COL1A2_uc010lfh.1_5'Flank	p.G109_splice	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	796	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		109					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.325_splice	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019508	0.35606	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99369	-5.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97083	0.9785	9	.	.	.	.	16.9537	0.86252	0.0:0.1274:0.8726:0.0	.	109;109	B4DTF5;P08123	.;CO1A2_HUMAN	C	109;110	ENSP00000297268:G109C	.	G	+	1	0	COL1A2	93871941	1.000000	0.71417	0.996000	0.52242	0.052000	0.14988	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GGC		0.403	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Missense_Mutation	T	94034005	G	T	94034005	5	4	228	1	0	0	0	0	0	0	1	0	3678	1246	43	5	355	5	COL1A2	7	94034005	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08	58161563	94034005	65104658	61	15969											
MUC17	140453	broad.mit.edu	37	chr7	100675953	100675953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaacaattcctgttgActccaaaacttttgtgacca	12	13	4	12	0	1	2	1	2	0	0	3	2	3	2	3	0	2	1	3	0	4	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:100675953A>G	ENST00000306151.4	+	3	1320	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	419	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATTCCTGTTGACTCCAAAACT	0.463																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1255-1257)gAc>gGc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							188	196	193					7																	100675953		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675953A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1256A>G	7.37:g.100675953A>G	ENSP00000302716:p.Asp419Gly					MUC17_uc010lho.1_Non-coding_Transcript	p.D419G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	1309	+	Lung NSC(181;0.136)|all_lung(186;0.182)		419			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1256A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.743	-0.491255	0.04322	.	.	ENSG00000169876	ENST00000306151	T	0.02974	4.09	1.22	-2.44	0.06502	.	.	.	.	.	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47674	-0.9099	9	0.21014	T	0.42	.	3.2617	0.06851	0.2898:0.4737:0.0:0.2365	.	419	Q685J3	MUC17_HUMAN	G	419	ENSP00000302716:D419G	ENSP00000302716:D419G	D	+	2	0	MUC17	100462673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.392000	0.01056	-0.680000	0.05211	0.321000	0.21382	GAC		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100675953	A	G	100675953	3	3	228	1	0	0	0	0	1	0	0	0	9974	275	10	4	1266	4	MUC17	7	100675953	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	6641948	100675953	58462710	62	15970											
MGAM	8972	broad.mit.edu	37	chr7	141736731	141736731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctatacaccctcttcttcCgtgctcacagccgaggggac	8	9	8	16	2	3	0	1	0	2	0	4	2	4	1	4	2	3	1	4	2	2	4	rs375055229		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141736731C>T	ENST00000549489.2	+	18	2280	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C	MGAM_ENST00000475668.2_Missense_Mutation_p.R729C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	729	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTTCTTCCGTGCTCACAG	0.493																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2185-2187)Cgt>Tgt		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						199	203	202					7																	141736731		2035	4196	6231	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736731C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2185C>T	7.37:g.141736731C>T	ENSP00000447378:p.Arg729Cys						p.R729C	NM_004668	NP_004659	O43451	MGA_HUMAN			17	2239	+	Melanoma(164;0.0272)		729			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2185C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324235	0.60634	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91686	-2.89	5.81	0.855	0.19013	Glycoside hydrolase, superfamily (1);	0.281671	0.23492	N	0.047582	D	0.95258	0.8462	M	0.90977	3.165	0.27381	N	0.955409	D	0.89917	1.0	D	0.71184	0.972	D	0.88585	0.3139	10	0.87932	D	0	.	4.0519	0.09800	0.3514:0.3655:0.0:0.2831	.	729	O43451	MGA_HUMAN	C	729;729;606	ENSP00000447378:R729C	ENSP00000316431:R606C	R	+	1	0	MGAM	141383200	0.689000	0.27690	0.013000	0.15412	0.993000	0.82548	1.958000	0.40402	-0.111000	0.12001	0.650000	0.86243	CGT		0.493	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141736731	C	T	141736731	3	4	228	1	0	0	0	0	1	0	0	0	9541	652	23	2	2251	2	MGAM	7	141736731	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	41060778	141736731	17401932	63	15971											
TRYX3	136541	broad.mit.edu	37	chr7	141954883	141954883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaactcacagatatcaCacacattgtagctccaggta	13	11	6	11	0	3	2	2	1	1	1	4	2	4	2	1	1	2	3	1	1	4	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141954883C>T	ENST00000552471.1	-	3	747	c.428G>A	c.(427-429)tGt>tAt	p.C143Y	PRSS58_ENST00000547058.2_Missense_Mutation_p.C143Y			Q8IYP2	PRS58_HUMAN	protease, serine, 58	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ACAGATATCACACACATTGTA	0.433																																						uc003vxb.3																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(427-429)tGt>tAt		Homo sapiens protease, serine, 58 (PRSS58), mRNA.							218	197	204					7																	141954883		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954883C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.428G>A	7.37:g.141954883C>T	ENSP00000446916:p.Cys143Tyr					PRSS58_uc003vxc.4_Missense_Mutation_p.C143Y	p.C143Y	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			2	748	-			143			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.428G>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133310	0.37630	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88277	-2.36;-2.36	4.93	4.93	0.64822	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.73900	0.3646	N	0.01003	-1.06	0.43377	D	0.995476	B	0.23377	0.084	B	0.22880	0.042	T	0.73697	-0.3901	9	0.87932	D	0	.	16.012	0.80409	0.0:1.0:0.0:0.0	.	143	Q8IYP2	PRS58_HUMAN	Y	143	ENSP00000447588:C143Y;ENSP00000446916:C143Y	ENSP00000307206:C143Y	C	-	2	0	PRSS58	141601360	0.023000	0.18921	0.916000	0.36221	0.063000	0.16089	1.677000	0.37576	2.732000	0.93576	0.655000	0.94253	TGT		0.433	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		T	141954883	C	T	141954883	3	4	228	1	0	0	0	0	1	0	0	0	16601	478	17	3	309	3	TRYX3	7	141954883	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	218152	141954883	17183780	64	15972											
ZNF282	8427	broad.mit.edu	37	chr7	148921339	148921339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatccaccaccgcaGccacaccaaggagcggccct	10	4	7	20	2	2	0	2	0	0	0	3	1	3	1	7	2	2	1	7	2	1	0	rs377317185		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:148921339G>A	ENST00000262085.3	+	8	1721	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	ZNF282_ENST00000479907.1_Splice_Site	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	539					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACCACCGCAGCCACACCAAG	0.682																																						uc003wfm.3																			0		p.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1615-1617)aGc>aAc		Homo sapiens zinc finger protein 282 (ZNF282), mRNA.		G	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	28	27	28		1616	2.5	1	7		28	0,8598		0,0,4299	no	missense	ZNF282	NM_003575.2	46	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	539/672	148921339	1,13003	2203	4299	6502	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921339G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1616G>A	7.37:g.148921339G>A	ENSP00000262085:p.Ser539Asn					ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.3_Missense_Mutation_p.A216T	p.S539N	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	7	1721	+	Melanoma(164;0.15)		539					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1616G>A	CCDS5895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.268|5.268	0.234813|0.234813	0.09969|0.09969	2.27E-4|2.27E-4	0.0|0.0	ENSG00000170265|ENSG00000170265	ENST00000479907|ENST00000430197;ENST00000262085	.|T	.|0.17691	.|2.26	4.28|4.28	2.47|2.47	0.30058|0.30058	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.106321	.|0.42294	.|D	.|0.000739	.|T	.|0.09992	.|0.0245	N|N	0.26162|0.26162	0.8|0.8	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.10450	.|0.005	.|T	.|0.16100	.|-1.0414	.|10	.|0.44086	.|T	.|0.13	.|-15.4035	3.8343|3.8343	0.08888|0.08888	0.2039:0.0:0.6073:0.1888|0.2039:0.0:0.6073:0.1888	.|.	.|539	.|Q9UDV7	.|ZN282_HUMAN	.|N	-1|192;539	.|ENSP00000262085:S539N	.|ENSP00000262085:S539N	.|S	+|+	.|2	.|0	ZNF282|ZNF282	148552272|148552272	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.046000|0.046000	0.14306|0.14306	-4.164000|-4.164000	0.00282|0.00282	0.458000|0.458000	0.26988|0.26988	0.561000|0.561000	0.74099|0.74099	.|AGC		0.682	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		A	148921339	G	A	148921339	3	1	228	1	0	0	0	0	1	0	0	0	17816	971	34	3	1646	3	ZNF282	7	148921339	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	6966456	148921339	10217324	65	15973											
TEX15	56154	broad.mit.edu	37	chr8	30694497	30694497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgcttgtggctccccCgcaaaataagtaaaatattg	12	12	7	10	1	0	0	0	0	0	0	1	0	1	0	3	1	1	4	3	1	6	6	rs142941425		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:30694497C>T	ENST00000256246.2	-	3	8228	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2718					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGGCTCCCCCGCAAAATAAG	0.423																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8152-8154)gcG>gcA		Homo sapiens testis expressed 15 (TEX15), mRNA.		A		0,4406		0,0,2203	73	75	74		8154	1.6	0	8	dbSNP_134	74	2,8598		0,2,4298	no	coding-synonymous	TEX15	NM_031271.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		2718/2790	30694497	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694497C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8154G>A	8.37:g.30694497C>T							p.A2718A	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	8154	-			2718						Silent	SNP	ENST00000256246.2	37	c.8154G>A	CCDS6080.1																																																																																				0.423	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30694497	C	T	30694497	2	4	228	1	0	0	0	0	0	0	0	1	15776	639	23	2		2	TEX15	8	30694497	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		30694497	115669525	66	15974											
PXDNL	137902	broad.mit.edu	37	chr8	52387561	52387561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcctctactgttactgaaGcaactgcacgcccatggagt	10	11	8	12	1	1	1	0	1	1	0	2	2	2	2	2	1	5	3	2	1	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:52387561G>A	ENST00000356297.4	-	7	765	c.665C>T	c.(664-666)gCt>gTt	p.A222V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A222V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	222	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTACTGAAGCAACTGCACG	0.463																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(664-666)gCt>gTt		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							64	63	63					8																	52387561		1898	4122	6020	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387561G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.665C>T	8.37:g.52387561G>A	ENSP00000348645:p.Ala222Val						p.A222V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			6	766	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	222			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.665C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745383	0.30955	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.51325	0.71;0.71	4.53	0.521	0.17046	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.32224	0.0822	L	0.35593	1.075	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.20940	-1.0260	9	0.39692	T	0.17	.	5.5877	0.17283	0.2636:0.1425:0.5938:0.0	.	222	A1KZ92	PXDNL_HUMAN	V	222	ENSP00000348645:A222V;ENSP00000444865:A222V	ENSP00000348645:A222V	A	-	2	0	PXDNL	52550114	0.030000	0.19436	0.000000	0.03702	0.005000	0.04900	1.886000	0.39688	0.033000	0.15463	-0.142000	0.14014	GCT		0.463	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52387561	G	A	52387561	3	1	228	1	0	0	0	0	1	0	0	0	12848	971	34	3	3794	3	PXDNL	8	52387561	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21693064	52387561	93976461	67	15975											
TSNARE1	203062	broad.mit.edu	37	chr8	143436006	143436006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatcattacctaggggcTgacagccttgtctcgaaggt	9	12	10	10	1	2	1	1	1	1	0	3	2	2	1	2	3	3	1	2	3	5	5	rs117184426	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:143436006T>C	ENST00000307180.3	-	2	197	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	TSNARE1_ENST00000524325.1_Missense_Mutation_p.Q27R|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Q27R|TSNARE1_ENST00000519651.1_Missense_Mutation_p.Q27R	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	27					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTAGGGGCTGACAGCCTTG	0.602													T|||	12	0.00239617	8e-04	0	5008	,	,		15460	0		0.006	False		,,,				2504	0.0051					uc003ywj.3																			0		p.Q27H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(79-81)cAg>cGg		Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.		T	ARG/GLN	2,4404	4.2+/-10.8	0,2,2201	49	40	43		80	3.2	1	8	dbSNP_132	43	19,8581	12.6+/-44.7	0,19,4281	yes	missense	TSNARE1	NM_145003.3	43	0,21,6482	CC,CT,TT		0.2209,0.0454,0.1615	benign	27/514	143436006	21,12985	2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143436006T>C			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.80A>G	8.37:g.143436006T>C	ENSP00000303437:p.Gln27Arg					TSNARE1_uc011lju.2_Missense_Mutation_p.Q27R|TSNARE1_uc003ywk.3_Missense_Mutation_p.Q27R|TSNARE1_uc003ywl.4_Missense_Mutation_p.Q27R	p.Q27R	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			0	119	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		27					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.80A>G	CCDS6384.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	T	17.47	3.397785	0.62177	4.54E-4	0.002209	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651;ENST00000520462;ENST00000518720	T;T;T;T;T;T	0.35048	1.51;1.48;1.51;1.44;1.4;1.33	3.19	3.19	0.36642	.	0.000000	0.31797	U	0.007055	T	0.34077	0.0885	L	0.32530	0.975	0.21841	N	0.999516	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.65140	0.932;0.932;0.932;0.932	T	0.06698	-1.0812	10	0.87932	D	0	-0.631	8.4148	0.32666	0.0:0.0:0.0:1.0	.	27;27;27;27	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	R	27;27;27;27;27;43	ENSP00000428763:Q27R;ENSP00000303437:Q27R;ENSP00000427770:Q27R;ENSP00000429679:Q27R;ENSP00000429626:Q27R;ENSP00000430789:Q43R	ENSP00000303437:Q27R	Q	-	2	0	TSNARE1	143433913	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.548000	0.36201	1.397000	0.46682	0.460000	0.39030	CAG		0.602	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		C	143436006	T	C	143436006	3	2	228	1	0	0	0	0	1	0	0	0	16627	1580	55	4	1509	4	TSNARE1	8	143436006	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	91048445	143436006	2928016	68	15976											
SPATC1	375686	broad.mit.edu	37	chr8	145095019	145095019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccctcaccagcttcCtgaccagtcccattgcggga	7	7	9	18	1	1	1	1	1	0	0	3	2	3	2	6	1	3	2	6	1	0	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:145095019C>G	ENST00000377470.3	+	2	523	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	SPATC1_ENST00000447830.2_Missense_Mutation_p.L141V	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	141						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCAGCTTCCTGACCAGTCC	0.682																																						uc011lkw.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-423)Ctg>Gtg		Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.							49	42	44					8																	145095019		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145095019C>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.421C>G	8.37:g.145095019C>G	ENSP00000366690:p.Leu141Val					SPATC1_uc011lkx.2_Missense_Mutation_p.L141V	p.L141V	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	523	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		141					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.421C>G	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662936	0.47572	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.45276	0.9;0.9	4.62	2.7	0.31948	.	0.452539	0.16878	N	0.195802	T	0.34687	0.0906	M	0.65975	2.015	0.09310	N	1	B;B	0.30851	0.297;0.093	B;B	0.27262	0.078;0.025	T	0.20840	-1.0263	10	0.15952	T	0.53	-4.6366	7.3655	0.26770	0.1854:0.6199:0.1947:0.0	.	141;141	B4DWW9;Q76KD6	.;SPERI_HUMAN	V	141	ENSP00000366690:L141V;ENSP00000387613:L141V	ENSP00000366690:L141V	L	+	1	2	SPATC1	145167007	0.016000	0.18221	0.150000	0.22450	0.094000	0.18550	0.655000	0.24933	0.427000	0.26145	0.555000	0.69702	CTG		0.682	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		G	145095019	C	G	145095019	3	3	228	1	0	0	0	0	1	0	0	0	15016	680	24	5	427	5	SPATC1	8	145095019	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1659013	145095019	1269003	69	15977											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777020	18777020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggcccccttcggctaTctcaagatccaccgcctcaa	8	8	8	17	3	2	1	2	0	1	1	5	1	3	1	5	3	0	1	5	3	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:18777020T>C	ENST00000380548.4	+	19	3132	c.2793T>C	c.(2791-2793)taT>taC	p.Y931Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	931	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTCGGCTATCTCAAGATCC	0.662																																						uc003zne.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2791-2793)taT>taC		Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.							43	51	48					9																	18777020		2050	4198	6248	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777020T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2793T>C	9.37:g.18777020T>C							p.Y931Y	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	2945	+			931			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2793T>C	CCDS47954.1																																																																																				0.662	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			C	18777020	T	C	18777020	2	2	228	1	0	0	0	0	0	0	0	1	274	1442	50	4		4	ADAMTSL1	9	18777020	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08		18777020	122436411	70	15978											
NOL6	65083	broad.mit.edu	37	chr9	33467806	33467806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtccccaccattgtcctgCagctctggccagagcttcag	7	10	9	15	0	2	1	1	0	1	1	4	1	4	1	5	1	3	3	5	1	1	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:33467806C>T	ENST00000379471.2	-	12	1572	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L443L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	495					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CATTGTCCTGCAGCTCTGGCC	0.637																																						uc003zsz.3																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1483-1485)ctG>ctA		Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.							26	27	26					9																	33467806		2203	4298	6501	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467806C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1485G>A	9.37:g.33467806C>T						NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.L495L|NOL6_uc010mjv.3_Silent_p.L492L|NOL6_uc011lob.2_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	p.L495L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	11	1586	-			495					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1485G>A																																																																																					0.637	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		T	33467806	C	T	33467806	2	4	228	1	0	0	0	0	0	0	0	1	10525	697	25	3		3	NOL6	9	33467806	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	14690786	33467806	107745625	71	15979											
C9orf139	401563	broad.mit.edu	37	chr9	139929144	139929144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaggctgtcctgccaCgcctgcgggtgacccggcct	5	6	16	14	3	0	1	0	1	0	0	1	3	1	3	5	5	2	1	5	5	1	0	rs535490102		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:139929144C>T	ENST00000314330.2	+	3	1725	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657													c|||	1	0.000199681	8e-04	0	5008	,	,		11549	0		0	False		,,,				2504	0					uc004ckp.1																			0				cervix(1)|lung(2)	3						c.(211-213)Cgc>Tgc		Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.							42	50	47					9																	139929144		2201	4287	6488	SO:0001583	missense	401563							g.chr9:139929144C>T		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.211C>T	9.37:g.139929144C>T	ENSP00000318119:p.Arg71Cys					FUT7_uc004ckq.2_5'Flank	p.R71C	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	2	1725	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	71					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.211C>T	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	c	3.849	-0.032213	0.07543	.	.	ENSG00000180539	ENST00000314330	T	0.56611	0.45	1.68	0.75	0.18387	.	.	.	.	.	T	0.26919	0.0659	N	0.08118	0	0.09310	N	1	B	0.25272	0.122	B	0.12156	0.007	T	0.16335	-1.0406	9	0.59425	D	0.04	.	4.0241	0.09678	0.0:0.7739:0.0:0.2261	.	71	Q6ZV77	CI139_HUMAN	C	71	ENSP00000318119:R71C	ENSP00000318119:R71C	R	+	1	0	C9orf139	139048965	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.354000	0.20146	0.271000	0.22005	0.290000	0.19541	CGC		0.657	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		T	139929144	C	T	139929144	3	4	228	1	0	0	0	0	1	0	0	0	2459	536	19	1	217	1	C9orf139	9	139929144	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	106461338	139929144	1284287	72	15980											
IDI2	91734	broad.mit.edu	37	chr10	1065753	1065753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtgatagattgtcatgaAcacaatgtcctctggagaaa	13	11	11	6	0	2	4	1	2	1	2	3	5	3	4	1	2	1	0	1	2	4	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:1065753A>T	ENST00000277517.1	-	5	452	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	IDI2-AS1_ENST00000437374.1_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	130	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATTGTCATGAACACAATGTCC	0.373																																						uc001ifv.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(388-390)Ttc>Atc		Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.							119	104	109					10																	1065753		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065753A>T	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.388T>A	10.37:g.1065753A>T	ENSP00000277517:p.Phe130Ile					IDI2-AS1_uc010qaf.1_5'Flank|IDI2-AS1_uc001ifx.3_5'Flank|IDI2-AS1_uc001ifw.3_5'Flank|IDI2-AS1_uc001ify.3_5'Flank	p.F130I	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	4	453	-		Colorectal(49;0.235)	130			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.388T>A	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114473	0.56505	.	.	ENSG00000148377	ENST00000277517	T	0.08282	3.11	3.55	2.36	0.29203	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.201174	0.43747	U	0.000528	T	0.14614	0.0353	M	0.65975	2.015	0.09310	N	1	D	0.56287	0.975	P	0.50314	0.637	T	0.04976	-1.0914	10	0.59425	D	0.04	-10.2624	8.7455	0.34583	0.8079:0.1921:0.0:0.0	.	130	Q9BXS1	IDI2_HUMAN	I	130	ENSP00000277517:F130I	ENSP00000277517:F130I	F	-	1	0	IDI2	1055753	0.696000	0.27757	0.000000	0.03702	0.670000	0.39368	4.705000	0.61838	0.518000	0.28383	0.155000	0.16302	TTC		0.373	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		T	1065753	A	T	1065753	3	4	228	1	0	0	0	0	1	0	0	0	7500	43	2	5	299	5	IDI2	10	1065753	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08		1065753	134468994	73	15981											
SYT15	83849	broad.mit.edu	37	chr10	46962073	46962073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctgccgcgggtgtacAtgtaggggcccaccaccact	6	8	12	15	2	1	0	0	0	1	0	2	0	1	0	4	3	2	3	4	3	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:46962073A>G	ENST00000374321.4	-	8	1229	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	SYT15_ENST00000374323.4_Missense_Mutation_p.M441T|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000449358.2_5'Flank|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	388						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCGGGTGTACATGTAGGGGCC	0.672																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1162-1164)aTg>aCg		Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.							47	57	54					10																	46962073		2119	4247	6366	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46962073A>G	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1163T>C	10.37:g.46962073A>G	ENSP00000363441:p.Met388Thr					SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.M266T|SYT15_uc010qfp.1_Non-coding_Transcript	p.M388T	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			7	1316	-			388					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1163T>C	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	19.41	3.822223	0.71028	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.06608	3.28;3.28	4.71	4.71	0.59529	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.02603	-1.1135	10	0.22706	T	0.39	.	12.7816	0.57480	1.0:0.0:0.0:0.0	.	388	Q9BQS2	SYT15_HUMAN	T	227;441;388	ENSP00000363443:M441T;ENSP00000363441:M388T	ENSP00000363441:M388T	M	-	2	0	SYT15	46382079	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.186000	0.77722	2.059000	0.61396	0.379000	0.24179	ATG		0.672	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		G	46962073	A	G	46962073	3	3	228	1	0	0	0	0	1	0	0	0	15468	217	8	4	160	4	SYT15	10	46962073	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	45896320	46962073	88572674	74	15982											
JMJD1C	221037	broad.mit.edu	37	chr10	64950737	64950737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagctgttgtagtcaGcaaatcccgtaaggttgagc	9	12	10	10	1	1	1	1	1	0	0	3	1	3	1	2	1	3	6	2	1	3	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:64950737G>A	ENST00000399262.2	-	17	6426	c.6208C>T	c.(6208-6210)Ctg>Ttg	p.L2070L	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Silent_p.L1833L|JMJD1C_ENST00000542921.1_Silent_p.L1888L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2070					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.L2070L(1)|p.L1833L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTAGTCAGCAAATCCCGT	0.463																																						uc001jmn.3																			2	Substitution - coding silent(2)	p.L2070L(1)|p.L1833L(1)	kidney(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(6208-6210)Ctg>Ttg		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							219	212	214					10																	64950737		1926	4129	6055	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64950737G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6208C>T	10.37:g.64950737G>A						JMJD1C_uc001jml.3_Silent_p.L1833L|JMJD1C_uc001jmm.3_Silent_p.L1782L|JMJD1C_uc010qiq.2_Silent_p.L1888L|JMJD1C_uc009xpi.3_Silent_p.L1888L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_5'UTR	p.L2070L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			16	6508	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2070					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.6208C>T	CCDS41532.1																																																																																				0.463	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64950737	G	A	64950737	2	1	228	1	0	0	0	0	0	0	0	1	7950	962	34	3		3	JMJD1C	10	64950737	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	17988664	64950737	70584010	75	15983											
CALHM2	51063	broad.mit.edu	37	chr10	105207008	105207008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtagagtgggaggccCtggttctcacggtacaagta	8	9	15	9	2	1	1	1	0	1	1	2	2	1	2	1	5	1	5	1	5	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:105207008C>G	ENST00000260743.5	-	4	1396	c.873G>C	c.(871-873)caG>caC	p.Q291H	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.Q291H|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	291					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GTGGGAGGCCCTGGTTCTCAC	0.627																																						uc001kxa.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(871-873)caG>caC		Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.							70	61	64					10																	105207008		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105207008C>G	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.873G>C	10.37:g.105207008C>G	ENSP00000260743:p.Gln291His					CALHM2_uc001kxc.3_3'UTR|CALHM2_uc001kxb.3_Missense_Mutation_p.Q291H	p.Q291H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	1484	-			291					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.873G>C	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787227	0.49997	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.18502	2.21;2.21	5.52	2.64	0.31445	.	0.262772	0.35677	N	0.003054	T	0.12561	0.0305	L	0.40543	1.245	0.80722	D	1	B	0.28605	0.217	B	0.25405	0.06	T	0.07986	-1.0744	10	0.56958	D	0.05	-5.2143	6.7202	0.23327	0.1239:0.6702:0.0:0.206	.	291	Q9HA72	CAHM2_HUMAN	H	291	ENSP00000358803:Q291H;ENSP00000260743:Q291H	ENSP00000260743:Q291H	Q	-	3	2	CALHM2	105196998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.671000	0.25172	0.706000	0.31912	0.561000	0.74099	CAG		0.627	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		G	105207008	C	G	105207008	3	3	228	1	0	0	0	0	1	0	0	0	2583	680	24	5	102	5	CALHM2	10	105207008	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	40256271	105207008	30327739	76	15984											
MUC2	4583	broad.mit.edu	37	chr11	1093681	1093681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacccaccactggaagcacgGggccccccacccacacaagc	11	1	8	21	1	0	0	0	0	0	0	0	1	0	1	6	3	2	1	6	3	2	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:1093681G>C	ENST00000441003.2	+	30	5527	c.5500G>C	c.(5500-5502)Ggg>Cgg	p.G1834R	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.G122R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAAGCACGGGGCCCCCCAC	0.617																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.e32-1		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						160	202	188					11																	1093681		2102	4198	6300	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093681G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5500G>C	11.37:g.1093681G>C	ENSP00000415183:p.Gly1834Arg						p.G1830_splice	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	5515	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1915					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5488_splice		.	.	.	.	.	.	.	.	.	.	G	2.198	-0.383762	0.04966	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.12255	2.7;2.94	1.55	0.557	0.17260	.	.	.	.	.	T	0.08758	0.0217	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.14578	0.011	T	0.33445	-0.9868	8	0.41790	T	0.15	.	5.6495	0.17608	0.1989:0.0:0.8011:0.0	.	1834	E7EUV1	.	R	1834;122	ENSP00000415183:G1834R;ENSP00000331373:G122R	ENSP00000331373:G122R	G	+	1	0	MUC2	1083681	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.983000	0.29552	-0.002000	0.14469	0.305000	0.20034	GGG		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093681	G	C	1093681	3	2	228	1	0	0	0	0	1	0	0	0	9975	1246	43	5	5610	5	MUC2	11	1093681	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		1093681	133912835	77	15985											
CHRNA10	57053	broad.mit.edu	37	chr11	3688949	3688949	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacggcgccatcgtggcgCaggaccacgttggtgctggc	5	6	16	14	6	0	0	0	0	0	0	1	1	0	1	2	5	1	4	2	5	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:3688949C>T	ENST00000250699.2	-	4	479	c.408G>A	c.(406-408)ctG>ctA	p.L136L	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	136					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CATCGTGGCGCAGGACCACGT	0.731																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(406-408)ctG>ctA		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						6	6	6					11																	3688949		2072	4009	6081	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688949C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.408G>A	11.37:g.3688949C>T						CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	p.L136L	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	480	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	136						Silent	SNP	ENST00000250699.2	37	c.408G>A	CCDS7745.1																																																																																				0.731	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			T	3688949	C	T	3688949	2	4	228	1	0	0	0	0	0	0	0	1	3382	697	25	3		3	CHRNA10	11	3688949	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	2595268	3688949	131317567	78	15986											
QSER1	79832	broad.mit.edu	37	chr11	32979551	32979551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccaccaccaaagaaaCggaaaaaatggaaagaagaa	22	2	9	8	1	0	4	0	1	0	3	0	6	0	6	3	2	2	0	3	2	8	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:32979551C>T	ENST00000399302.2	+	8	4836	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	QSER1_ENST00000527788.1_Missense_Mutation_p.R1262W	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1501										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACCAAAGAAACGGAAAAAATG	0.413																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4501-4503)Cgg>Tgg		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							86	80	82					11																	32979551		1856	4106	5962	SO:0001583	missense	79832							g.chr11:32979551C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4501C>T	11.37:g.32979551C>T	ENSP00000382241:p.Arg1501Trp					QSER1_uc001mtz.1_Missense_Mutation_p.R1262W|QSER1_uc001mua.3_Missense_Mutation_p.R1006W	p.R1501W	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			7	4768	+	Breast(20;0.158)		1501					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4501C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757031	0.69648	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.31247	1.83;1.5	5.9	2.89	0.33648	.	0.000000	0.64402	D	0.000018	T	0.53674	0.1811	M	0.66939	2.045	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.57814	-0.7746	10	0.87932	D	0	.	15.9345	0.79691	0.6327:0.3673:0.0:0.0	.	1262;1262;1501	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	W	1501;1262;1262	ENSP00000382241:R1501W;ENSP00000432766:R1262W	ENSP00000078652:R1262W	R	+	1	2	QSER1	32936127	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.463000	0.35277	0.319000	0.23209	0.650000	0.86243	CGG		0.413	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32979551	C	T	32979551	3	4	228	1	0	0	0	0	1	0	0	0	12882	527	19	1	4523	1	QSER1	11	32979551	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	29290602	32979551	102026965	79	15987											
AGBL2	79841	broad.mit.edu	37	chr11	47726094	47726094	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgtgagtaagtcatattaCcaatatgatggatgttttcc	12	15	8	6	0	1	2	1	2	0	0	2	3	2	3	2	1	1	2	2	1	5	6			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:47726094C>G	ENST00000525123.1	-	7	872		c.e7+1		AGBL2_ENST00000357610.3_Splice_Site|AGBL2_ENST00000298861.4_Splice_Site|AGBL2_ENST00000529712.1_Splice_Site|AGBL2_ENST00000528244.1_Splice_Site	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2							cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AGTCATATTACCAATATGATG	0.423																																						uc001ngg.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.e7+1		Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.							104	96	98					11																	47726094		2201	4298	6499	SO:0001630	splice_region_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47726094C>G		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.586+1G>C	11.37:g.47726094C>G						AGBL2_uc010rhq.1_Splice_Site_p.E158_splice|AGBL2_uc001ngh.1_Splice_Site_p.E140_splice	p.E196_splice	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			7	888	-			196					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Splice_Site	SNP	ENST00000525123.1	37	c.586_splice	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958846	0.74016	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3567	0.90359	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGBL2	47682670	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.420000	0.66441	2.424000	0.82194	0.591000	0.81541	.		0.423	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	Intron	G	47726094	C	G	47726094	5	3	228	1	0	0	0	0	0	0	1	0	376	521	18	5	2173	5	AGBL2	11	47726094	Splice_Site	SNP	C	TCGA-32-2491-01A-01D-1353-08	14746543	47726094	87280422	80	15988											
EML3	256364	broad.mit.edu	37	chr11	62378668	62378668	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgggtcccgctaggctCttcgctggccccctgagggg	4	9	15	13	2	1	2	0	1	1	1	3	2	2	2	3	5	0	3	3	5	1	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:62378668C>A	ENST00000394773.2	-	3	650	c.343G>T	c.(343-345)Gag>Tag	p.E115*	EML3_ENST00000529309.1_Nonsense_Mutation_p.E115*|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_Nonsense_Mutation_p.E87*|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000278845.4_Nonsense_Mutation_p.E116*|ROM1_ENST00000534093.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	115						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCTAGGCTCTTCGCTGGCC	0.697																																						uc010rly.1																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(343-345)Gag>Tag		Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.							12	14	14					11																	62378668		2165	4264	6429	SO:0001587	stop_gained	256364					cytoplasm|microtubule	protein binding	g.chr11:62378668C>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.343G>T	11.37:g.62378668C>A	ENSP00000378254:p.Glu115*					EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc001ntu.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank	p.E115*			Q32P44	EMAL3_HUMAN			2	651	-			115					Q6ZQW7|Q8NA55	Nonsense_Mutation	SNP	ENST00000394773.2	37	c.343G>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.58|16.58	3.164016|3.164016	0.57476|0.57476	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857|ENST00000394776	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	1.089210|.	0.07033|.	N|.	0.828766|.	.|T	.|0.65396	.|0.2687	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70200	.|-0.4937	.|3	0.24483|.	T|.	0.36|.	-19.7137|-19.7137	14.2488|14.2488	0.66007|0.66007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	115;116;87;115;86;87;86|109	.|.	ENSP00000278845:E116X|.	E|R	-|-	1|2	0|0	EML3|EML3	62135244|62135244	0.919000|0.919000	0.31177|0.31177	0.871000|0.871000	0.34182|0.34182	0.240000|0.240000	0.25518|0.25518	1.949000|1.949000	0.40313|0.40313	2.515000|2.515000	0.84797|0.84797	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.697	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		A	62378668	C	A	62378668	4	1	228	1	0	0	0	0	0	1	0	0	5098	922	32	5	2427	5	EML3	11	62378668	Nonsense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	14652574	62378668	72627848	81	15989											
CCDC87	55231	broad.mit.edu	37	chr11	66358101	66358101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccttgaagatcactggctCgccaaagattaactctatct	11	11	6	13	1	3	3	1	1	2	2	4	3	3	3	3	1	1	1	3	1	4	3	rs369370998		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:66358101C>T	ENST00000333861.3	-	1	2453	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	796					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.E796*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCACTGGCTCGCCAAAGATT	0.532																																						uc001oiq.4																			1	Substitution - Nonsense(1)	p.E796*(2)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2386-2388)Gag>Aag		Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.		C	LYS/GLU	0,4400		0,0,2200	152	162	159		2386	5.6	1	11		159	1,8589	1.2+/-3.3	0,1,4294	no	missense	CCDC87	NM_018219.2	56	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	796/850	66358101	1,12989	2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358101C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2386G>A	11.37:g.66358101C>T	ENSP00000328487:p.Glu796Lys					CCS_uc001oir.3_5'Flank	p.E796K	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			0	2454	-			796					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2386G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326791	0.81690	0.0	1.16E-4	ENSG00000182791	ENST00000333861	T	0.27256	1.68	5.6	5.6	0.85130	.	0.336219	0.24488	N	0.038090	T	0.44350	0.1289	L	0.53249	1.67	0.41093	D	0.985613	D	0.69078	0.997	D	0.63033	0.91	T	0.28776	-1.0033	10	0.62326	D	0.03	.	15.0991	0.72258	0.0:1.0:0.0:0.0	.	796	Q9NVE4	CCD87_HUMAN	K	796	ENSP00000328487:E796K	ENSP00000328487:E796K	E	-	1	0	CCDC87	66114677	0.994000	0.37717	0.967000	0.41034	0.781000	0.44180	4.145000	0.58065	2.639000	0.89480	0.561000	0.74099	GAG		0.532	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		T	66358101	C	T	66358101	3	4	228	1	0	0	0	0	1	0	0	0	2862	893	31	2	167	2	CCDC87	11	66358101	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	3979433	66358101	68648415	82	15990											
FAT3	120114	broad.mit.edu	37	chr11	92535042	92535042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggacagagacacatccGacgttaatcgccaagtgagc	12	6	11	12	3	0	2	0	1	0	1	2	5	1	3	3	1	1	1	3	1	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:92535042G>A	ENST00000298047.6	+	9	8880	c.8863G>A	c.(8863-8865)Gac>Aac	p.D2955N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2805N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2955N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2955	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACACATCCGACGTTAATCG	0.522										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8863-8865)Gac>Aac		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							62	64	63					11																	92535042		1971	4150	6121	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92535042G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8863G>A	11.37:g.92535042G>A	ENSP00000298047:p.Asp2955Asn	TCGA Ovarian(4;0.039)					p.D2955N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	8880	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2955			Cadherin 27.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8863G>A		.	.	.	.	.	.	.	.	.	.	G	9.349	1.064923	0.20067	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03468	3.92;3.92;3.92	5.6	3.67	0.42095	.	.	.	.	.	T	0.03871	0.0109	L	0.45228	1.405	0.44030	D	0.996756	B	0.16603	0.018	B	0.08055	0.003	T	0.42032	-0.9475	9	0.16896	T	0.51	.	10.4673	0.44616	0.0735:0.1349:0.7916:0.0	.	2955	Q8TDW7-3	.	N	2955;2955;2805	ENSP00000298047:D2955N;ENSP00000387040:D2955N;ENSP00000432586:D2805N	ENSP00000298047:D2955N	D	+	1	0	FAT3	92174690	0.969000	0.33509	0.145000	0.22337	0.432000	0.31715	3.020000	0.49643	0.677000	0.31305	0.563000	0.77884	GAC		0.522	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92535042	G	A	92535042	3	1	228	1	0	0	0	0	1	0	0	0	5691	1058	37	2	8897	2	FAT3	11	92535042	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	26176941	92535042	42471474	83	15991											
HEPHL1	341208	broad.mit.edu	37	chr11	93839268	93839268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggacatacataccatccAttatcatgctgagagctttc	12	12	7	10	0	1	1	1	1	0	1	3	3	2	2	2	1	4	2	2	1	3	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:93839268A>G	ENST00000315765.9	+	17	3025	c.3017A>G	c.(3016-3018)cAt>cGt	p.H1006R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1006	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATACCATCCATTATCATGCT	0.353																																						uc001pep.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(3016-3018)cAt>cGt		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.							139	137	138					11																	93839268		1888	4108	5996	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93839268A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3017A>G	11.37:g.93839268A>G	ENSP00000313699:p.His1006Arg					AF086184_uc001pen.1_Intron	p.H1006R	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			16	3174	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1006			Plastocyanin-like 6.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.3017A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201986	0.79127	.	.	ENSG00000181333	ENST00000315765	D	0.99983	-11.16	5.95	4.81	0.61882	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99986	0.9997	H	0.98295	4.195	0.47994	D	0.999564	D	0.89917	1.0	D	0.97110	1.0	D	0.99923	1.1265	10	0.87932	D	0	-5.9568	12.3335	0.55054	0.9331:0.0:0.0669:0.0	.	1006	Q6MZM0	HPHL1_HUMAN	R	1006	ENSP00000313699:H1006R	ENSP00000313699:H1006R	H	+	2	0	HEPHL1	93478916	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.949000	0.75971	2.279000	0.76181	0.533000	0.62120	CAT		0.353	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		G	93839268	A	G	93839268	3	3	228	1	0	0	0	0	1	0	0	0	7055	217	8	4	3083	4	HEPHL1	11	93839268	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	1304226	93839268	41167248	84	15992											
RNF26	79102	broad.mit.edu	37	chr11	119206267	119206267	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgccatgagcctggtggcTtatgtgatcaacagcctggt	8	12	12	9	0	1	2	1	2	0	0	1	2	1	2	3	3	4	1	3	3	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:119206267T>A	ENST00000311413.4	+	1	1031	c.435T>A	c.(433-435)gcT>gcA	p.A145A	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	145						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCTGGTGGCTTATGTGATCA	0.592																																						uc001pwh.3																			0				cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(433-435)gcT>gcA		Homo sapiens ring finger protein 26 (RNF26), mRNA.							98	84	88					11																	119206267		2199	4295	6494	SO:0001819	synonymous_variant	79102						zinc ion binding	g.chr11:119206267T>A	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.435T>A	11.37:g.119206267T>A							p.A145A	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	0	1058	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	145			Leu-rich.		Q542Y8	Silent	SNP	ENST00000311413.4	37	c.435T>A	CCDS8419.1																																																																																				0.592	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		A	119206267	T	A	119206267	2	1	228	1	0	0	0	0	0	0	0	1	13486	1596	56	5		5	RNF26	11	119206267	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	25366999	119206267	15800249	85	15993											
KIAA0528	9847	broad.mit.edu	37	chr12	22602814	22602815	+	Frame_Shift_Del	DEL	AA	AA	-																															gcatcaccacttacatttatAagacactgtgcctataagaa																										TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:22602814_22602815delAA	ENST00000333957.4	-	25	3137_3138	c.2882_2883delTT	c.(2881-2883)cttfs	p.L961fs	C2CD5_ENST00000396028.2_Frame_Shift_Del_p.L1003fs|C2CD5_ENST00000446597.1_Frame_Shift_Del_p.L1012fs|C2CD5_ENST00000542676.1_Frame_Shift_Del_p.L1012fs|C2CD5_ENST00000545552.1_Frame_Shift_Del_p.L1015fs|C2CD5_ENST00000544930.1_Frame_Shift_Del_p.L817fs|C2CD5_ENST00000536386.1_Frame_Shift_Del_p.L1014fs	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	961					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTACATTTATAAGACACTGTGC	0.411																																						uc010sit.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3040-3042)cttfs		Homo sapiens KIAA0528 (KIAA0528), mRNA.																																				SO:0001589	frameshift_variant	9847						protein binding	g.chr12:22602814_22602815delAA	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2882_2883delTT	12.37:g.22602814_22602815delAA	ENSP00000334229:p.Leu961fs					KIAA0528_uc010sir.2_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfq.3_Frame_Shift_Del_p.L961fs|KIAA0528_uc010siu.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.3_Frame_Shift_Del_p.L1003fs	p.L1014fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			27	3269_3270	-			961					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Frame_Shift_Del	DEL	ENST00000333957.4	37	c.3041_3042delTT	CCDS31758.1																																																																																				0.411	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		-	22602815	AA	-	22602814	7	5	228	1	0	1	0	1	0	0	0	0	8182	349	13	0	123	0	KIAA0528	12	22602814	Frame_Shift_Del	DEL	AA	TCGA-32-2491-01A-01D-1353-08		22602814	111249081	86	15994											
C12orf45	121053	broad.mit.edu	37	chr12	105380235	105380235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacggcgggaagcgaCggccgcggaggtgacggacg	7	3	20	11	8	0	2	0	2	0	0	0	6	0	5	1	6	2	1	1	6	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:105380235C>G	ENST00000552951.1	+	1	148	c.105C>G	c.(103-105)gaC>gaG	p.D35E	C12orf45_ENST00000280749.5_Missense_Mutation_p.D35E	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	35										large_intestine(1)|lung(2)	3						CGGGAAGCGACGGCCGCGGAG	0.706																																						uc001tlb.3																			0				large_intestine(1)|lung(2)	3						c.(103-105)gaC>gaG		Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.							14	18	17					12																	105380235		1951	4145	6096	SO:0001583	missense	121053							g.chr12:105380235C>G	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.105C>G	12.37:g.105380235C>G	ENSP00000447057:p.Asp35Glu						p.D35E	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			0	138	+			35						Missense_Mutation	SNP	ENST00000552951.1	37	c.105C>G	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831163	0.32329	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.28069	1.63;1.63	3.8	-0.498	0.12019	.	0.483379	0.18469	N	0.140277	T	0.09335	0.0230	N	0.08118	0	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.29488	-1.0010	10	0.02654	T	1	-1.7778	2.5207	0.04679	0.1804:0.3576:0.3529:0.109	.	35	Q8N5I9	CL045_HUMAN	E	35	ENSP00000447057:D35E;ENSP00000280749:D35E	ENSP00000280749:D35E	D	+	3	2	C12orf45	103904365	0.222000	0.23652	0.947000	0.38551	0.609000	0.37215	-0.181000	0.09740	-0.095000	0.12351	0.555000	0.69702	GAC		0.706	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318		G	105380235	C	G	105380235	3	3	228	1	0	0	0	0	1	0	0	0	1691	535	19	5	107	5	C12orf45	12	105380235	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	82777421	105380235	28471660	87	15995											
HVCN1	84329	broad.mit.edu	37	chr12	111099056	111099056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggggcaggggcaacGtcaggggctgcagctctgcc	6	4	19	12	1	2	0	1	0	1	0	2	0	2	0	2	7	4	5	2	7	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:111099056G>A	ENST00000356742.5	-	3	972	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HVCN1_ENST00000548312.1_Silent_p.D73D|HVCN1_ENST00000242607.8_Silent_p.D73D|HVCN1_ENST00000439744.2_Silent_p.D53D			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	73					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CAGGGGCAACGTCAGGGGCTG	0.617																																						uc001trs.1																			0		p.P72P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(217-219)gaC>gaT		Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.							52	58	56					12																	111099056		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099056G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.219C>T	12.37:g.111099056G>A						HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	p.D73D	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			3	384	-			73					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.219C>T	CCDS31900.1																																																																																				0.617	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		A	111099056	G	A	111099056	2	1	228	1	0	0	0	0	0	0	0	1	7462	1136	40	1		1	HVCN1	12	111099056	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	5718821	111099056	22752839	88	15996											
RB1	5925	broad.mit.edu	37	chr13	48955550	48955550	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttagaacgatgtgaacatCgaatcatggaatcccttgca	14	11	8	8	2	1	2	1	1	0	1	3	5	2	3	1	1	3	1	1	1	5	3	rs121913304		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:48955550C>T	ENST00000267163.4	+	17	1804	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	556	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R556*(5)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATGTGAACATCGAATCATGGA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		29	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)|Deletion - Frameshift(1)	p.0?(15)|p.R556*(10)|p.?(8)|p.C553fs*53(1)	bone(11)|breast(5)|eye(4)|central_nervous_system(4)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM942039	RB1	M	rs121913304	c.(1666-1668)Cga>Tga		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						81	75	77					13																	48955550		2202	4300	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955550C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1666C>T	13.37:g.48955550C>T	ENSP00000267163:p.Arg556*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R556*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	16	1832	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	556			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1666C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802642	0.98498	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	0.156720	0.44285	D	0.000462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	.	.	.	X	535;556	.	ENSP00000267163:R556X	R	+	1	2	RB1	47853551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.611000	0.54132	2.488000	0.83962	0.650000	0.86243	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	48955550	C	T	48955550	4	4	228	1	0	0	0	0	0	1	0	0	13098	876	31	2	1732	2	RB1	13	48955550	Nonsense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		48955550	66214328	89	15997											
OLFM4	10562	broad.mit.edu	37	chr13	53624151	53624151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatcagcaaaccgtctgtgGttcagctcaactggagaggg	11	8	12	10	1	4	1	3	0	1	1	4	2	4	1	1	3	4	3	1	3	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:53624151G>C	ENST00000219022.2	+	5	856	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	260	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACCGTCTGTGGTTCAGCTCAA	0.448																																						uc001vhl.3																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(778-780)Gtt>Ctt		Homo sapiens olfactomedin 4 (OLFM4), mRNA.							153	151	152					13																	53624151		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624151G>C	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.778G>C	13.37:g.53624151G>C	ENSP00000219022:p.Val260Leu					OLFM4_uc001vhk.2_Intron	p.V260L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	4	874	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	260			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.778G>C	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611120	0.28712	.	.	ENSG00000102837	ENST00000219022	D	0.88741	-2.42	5.63	2.9	0.33743	Olfactomedin-like (3);	0.453416	0.24534	N	0.037697	D	0.90061	0.6896	M	0.81497	2.545	0.09310	N	1	B	0.27068	0.167	B	0.37692	0.256	D	0.84506	0.0619	10	0.66056	D	0.02	.	10.9066	0.47084	0.2637:0.0:0.7363:0.0	.	260	Q6UX06	OLFM4_HUMAN	L	260	ENSP00000219022:V260L	ENSP00000219022:V260L	V	+	1	0	OLFM4	52522152	0.039000	0.19947	0.046000	0.18839	0.446000	0.32137	1.003000	0.29809	0.815000	0.34398	0.655000	0.94253	GTT		0.448	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		C	53624151	G	C	53624151	3	2	228	1	0	0	0	0	1	0	0	0	10855	1261	44	5	796	5	OLFM4	13	53624151	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4668601	53624151	61545727	90	15998											
DCT	1638	broad.mit.edu	37	chr13	95121065	95121065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcataaacactgcagttgGcaaactgcggctgggttcca	12	9	10	10	1	1	0	1	0	0	0	2	0	2	0	1	3	4	5	1	3	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:95121065G>A	ENST00000377028.5	-	2	943	c.530C>T	c.(529-531)gCc>gTc	p.A177V	DCT_ENST00000446125.1_Missense_Mutation_p.A177V|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	177					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACTGCAGTTGGCAAACTGCGG	0.458																																						uc010afh.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(529-531)gCc>gTc		Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.							137	141	140					13																	95121065		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121065G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.530C>T	13.37:g.95121065G>A	ENSP00000366227:p.Ala177Val					DCT_uc001vlv.4_Missense_Mutation_p.A177V	p.A177V	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	957	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	177					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.530C>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616231	0.46631	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.85773	-2.03;-2.03	5.69	4.84	0.62591	Uncharacterised domain, di-copper centre (2);	0.366225	0.34531	N	0.003881	T	0.81394	0.4813	L	0.55213	1.73	0.45594	D	0.99853	B;B	0.25609	0.13;0.073	B;B	0.25759	0.063;0.04	T	0.76564	-0.2913	9	.	.	.	-17.6456	14.0835	0.64939	0.0719:0.0:0.9281:0.0	.	177;177	Q09GT4;P40126	.;TYRP2_HUMAN	V	177	ENSP00000366227:A177V;ENSP00000392762:A177V	.	A	-	2	0	DCT	93919066	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	3.827000	0.55745	2.677000	0.91161	0.655000	0.94253	GCC		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95121065	G	A	95121065	3	1	228	1	0	0	0	0	1	0	0	0	4304	1203	42	3	1164	3	DCT	13	95121065	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	41496914	95121065	20048813	91	15999											
AKAP6	9472	broad.mit.edu	37	chr14	33014783	33014783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacaaaggtggatgtgaGgaagacaatgcttctgcagt	13	8	14	6	1	1	2	0	1	1	1	1	6	1	4	0	3	2	2	0	3	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:33014783G>T	ENST00000280979.4	+	4	1094	c.924G>T	c.(922-924)gaG>gaT	p.E308D	AKAP6_ENST00000557272.1_Missense_Mutation_p.E308D|AKAP6_ENST00000557354.1_Missense_Mutation_p.E308D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	308					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGATGTGAGGAAGACAATG	0.488																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.3																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(922-924)gaG>gaT		Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.							101	92	95					14																	33014783		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014783G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.924G>T	14.37:g.33014783G>T	ENSP00000280979:p.Glu308Asp					AKAP6_uc010aml.3_Missense_Mutation_p.E305D	p.E308D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	3	1094	+	Breast(36;0.0388)|Prostate(35;0.15)		308					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.924G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.502922	0.04261	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.91	2.4	0.29515	.	0.453561	0.24081	N	0.041723	T	0.17874	0.0429	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.13602	-1.0503	10	0.44086	T	0.13	-0.7439	3.393	0.07295	0.2539:0.1078:0.5173:0.1211	.	308;308	A7E242;Q13023	.;AKAP6_HUMAN	D	308;308;308;66	ENSP00000280979:E308D;ENSP00000450531:E308D;ENSP00000451247:E308D;ENSP00000451239:E66D	ENSP00000280979:E308D	E	+	3	2	AKAP6	32084534	0.904000	0.30761	0.017000	0.16124	0.090000	0.18270	0.329000	0.19698	0.649000	0.30751	0.655000	0.94253	GAG		0.488	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33014783	G	T	33014783	3	4	228	1	0	0	0	0	1	0	0	0	455	991	35	5	934	5	AKAP6	14	33014783	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		33014783	74334757	92	16000											
SERPINA6	866	broad.mit.edu	37	chr14	94776220	94776220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctggcaggggagctccGagtcatgaaggtaactgatg	10	7	15	9	1	1	2	1	2	0	0	2	4	2	3	2	4	3	4	2	4	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94776220G>A	ENST00000341584.3	-	3	883	c.737C>T	c.(736-738)tCg>tTg	p.S246L		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	246			S -> A (in dbSNP:rs2228541). {ECO:0000269|PubMed:15489334}.		glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGGGAGCTCCGAGTCATGAAG	0.542																																						uc001ycv.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(736-738)tCg>tTg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						136	111	120					14																	94776220		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776220G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.737C>T	14.37:g.94776220G>A	ENSP00000342850:p.Ser246Leu					SERPINA6_uc010auv.3_Non-coding_Transcript	p.S246L	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	841	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	246		S -> A (in dbSNP:rs2228541).			A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.737C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144079	0.37825	.	.	ENSG00000170099	ENST00000341584	D	0.88431	-2.38	5.32	1.25	0.21368	Serpin domain (3);	1.223890	0.05905	N	0.630684	D	0.86066	0.5844	L	0.60455	1.87	0.09310	N	1	P	0.37352	0.591	B	0.33196	0.159	T	0.74426	-0.3669	10	0.66056	D	0.02	.	9.3606	0.38192	0.0:0.2014:0.3047:0.4938	.	246	P08185	CBG_HUMAN	L	246	ENSP00000342850:S246L	ENSP00000342850:S246L	S	-	2	0	SERPINA6	93845973	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.028000	0.12350	0.377000	0.24735	0.650000	0.86243	TCG		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		A	94776220	G	A	94776220	3	1	228	1	0	0	0	0	1	0	0	0	14093	1059	37	2	492	2	SERPINA6	14	94776220	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	61761437	94776220	12573320	93	16001											
SERPINA9	327657	broad.mit.edu	37	chr14	94935885	94935885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgaggttgaagcccAggccctggagaatctgggtc	7	10	16	8	0	1	3	0	2	1	1	2	4	1	3	2	4	1	1	2	4	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94935885A>G	ENST00000380365.3	-	2	371	c.293T>C	c.(292-294)cTg>cCg	p.L98P	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Missense_Mutation_p.L116P|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.L80P|SERPINA9_ENST00000448305.2_Missense_Mutation_p.L18P|SERPINA9_ENST00000424550.2_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	98					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGAAGCCCAGGCCCTGGAG	0.567																																						uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(346-348)cTg>cCg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.							88	94	92					14																	94935885		2145	4264	6409	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935885A>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.293T>C	14.37:g.94935885A>G	ENSP00000369723:p.Leu98Pro					SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	p.L116P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	1	508	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	98					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.347T>C		.	.	.	.	.	.	.	.	.	.	A	15.27	2.784750	0.49997	.	.	ENSG00000170054	ENST00000448305;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.12	2.93	0.34026	Serpin domain (3);	0.159227	0.28465	N	0.015244	D	0.98188	0.9401	H	0.96301	3.8	0.48135	D	0.999597	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97833	1.0264	10	0.87932	D	0	.	10.7467	0.46185	0.8399:0.1601:0.0:0.0	.	80;98;18;116	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7	.;SPA9_HUMAN;.;.	P	18;116;98;80	ENSP00000414092:L18P;ENSP00000337133:L116P;ENSP00000369723:L98P;ENSP00000445476:L80P	ENSP00000337133:L116P	L	-	2	0	SERPINA9	94005638	0.974000	0.33945	0.035000	0.18076	0.689000	0.40095	8.259000	0.89855	0.541000	0.28827	0.379000	0.24179	CTG		0.567	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		G	94935885	A	G	94935885	3	3	228	1	0	0	0	0	1	0	0	0	14095	188	7	4	976	4	SERPINA9	14	94935885	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	159665	94935885	12413655	94	16002											
PCSK6	5046	broad.mit.edu	37	chr15	101933603	101933603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattcccagatgcccagacGaaaatggagcccaggccctg	11	5	10	15	1	0	2	0	0	0	2	1	4	1	3	5	2	2	0	5	2	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr15:101933603G>A	ENST00000348070.1	-	9	1019	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_ENST00000398181.2_Silent_p.F340F|PCSK6_ENST00000331826.7_Silent_p.F175F|PCSK6_ENST00000358417.3_Silent_p.F340F|PCSK6_ENST00000344273.2_Silent_p.F340F|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	341	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.F340F(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627																																						uc002bxa.2																			3	Substitution - coding silent(3)	p.F340F(4)	large_intestine(3)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1018-1020)ttC>ttT		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							42	50	47					15																	101933603		2193	4299	6492	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101933603G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1020C>T	15.37:g.101933603G>A						PCSK6_uc010bpd.3_Silent_p.F211F|PCSK6_uc002bwy.3_Silent_p.F340F|PCSK6_uc010bpe.3_Silent_p.F337F|PCSK6_uc002bxb.2_Silent_p.F340F|PCSK6_uc002bxc.1_Silent_p.F340F|PCSK6_uc002bxd.1_Silent_p.F340F|PCSK6_uc002bxe.3_Silent_p.F340F|PCSK6_uc002bxg.1_Silent_p.F340F	p.F340F	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1334	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		341			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.1020C>T																																																																																					0.627	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		A	101933603	G	A	101933603	2	1	228	1	0	0	0	0	0	0	0	1	11604	1049	37	2		2	PCSK6	15	101933603	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		101933603	597789	95	16003											
ITGAD	3681	broad.mit.edu	37	chr16	31422196	31422196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccgaagtcacagggacGcaggttgggcgtgacaggag	11	4	18	8	3	1	1	1	1	0	0	1	4	1	3	1	5	0	2	1	5	2	1	rs374689836		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:31422196G>A	ENST00000389202.2	+	12	1402	c.1353G>A	c.(1351-1353)acG>acA	p.T451T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	451					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACAGGGACGCAGGTTGGGC	0.657																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1351-1353)acG>acA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							38	36	37					16																	31422196		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422196G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1353G>A	16.37:g.31422196G>A						ITGAD_uc002ebv.1_Silent_p.T451T	p.T451T	NM_005353	NP_005344	Q13349	ITAD_HUMAN			11	1402	+			451					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1353G>A	CCDS32438.1																																																																																				0.657	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31422196	G	A	31422196	2	1	228	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31422196	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		31422196	58932557	96	16004											
COQ9	57017	broad.mit.edu	37	chr16	57492187	57492187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcatgctccctcacaaCatcccgtccagcctgagcct	8	9	5	19	1	2	1	2	1	0	0	6	1	6	1	6	0	4	1	6	0	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:57492187C>G	ENST00000262507.6	+	6	705	c.636C>G	c.(634-636)aaC>aaG	p.N212K	COQ9_ENST00000567933.1_Intron|AC009052.12_ENST00000567090.1_RNA|COQ9_ENST00000567072.1_Missense_Mutation_p.N177K	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	212					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCCCTCACAACATCCCGTCCA	0.562																																						uc002elq.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(634-636)aaC>aaG		Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.							100	67	78					16																	57492187		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57492187C>G	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.636C>G	16.37:g.57492187C>G	ENSP00000262507:p.Asn212Lys					COQ9_uc002els.3_Missense_Mutation_p.N5K	p.N212K	NM_020312	NP_064708	O75208	COQ9_HUMAN			5	717	+			212					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.636C>G	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016820	0.75161	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.24	2.91	0.33838	COQ9 (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.93720	3.45	0.80722	D	1	P	0.48911	0.917	P	0.51918	0.684	T	0.80441	-0.1381	9	0.66056	D	0.02	-14.1914	9.5819	0.39493	0.0:0.747:0.0:0.253	.	212	O75208	COQ9_HUMAN	K	212	.	ENSP00000262507:N212K	N	+	3	2	COQ9	56049688	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.185000	0.50934	1.201000	0.43203	0.561000	0.74099	AAC		0.562	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		G	57492187	C	G	57492187	3	3	228	1	0	0	0	0	1	0	0	0	3751	477	17	5	658	5	COQ9	16	57492187	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	26069991	57492187	32862566	97	16005											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132	103	113					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.C238F	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577568	C	A	7577568	3	1	228	1	0	0	0	0	1	0	0	0	16378	478	17	5	577	5	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		7577568	73617642	98	16006											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7578265A>T	ENST00000269305.4	-	6	773	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(583-585)aTc>aAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							100	89	93					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>A	17.37:g.7578265A>T	ENSP00000269305:p.Ile195Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.3_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.2_Missense_Mutation_p.I156N|DL476358_uc021tph.1_Splice_Site	p.I195N	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474490	0.43942	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.996;0.998;0.998;0.998	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195N;ENSP00000352610:I195N;ENSP00000269305:I195N;ENSP00000398846:I195N;ENSP00000391127:I195N;ENSP00000391478:I195N;ENSP00000425104:I63N;ENSP00000423862:I102N	ENSP00000269305:I195N	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578265	A	T	7578265	3	4	228	1	0	0	0	0	1	0	0	0	16378	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	697	7578265	73616945	99	16007											
RAI1	10743	broad.mit.edu	37	chr17	17697820	17697820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccgactacctgagcGgctccgaggacccactggag	9	4	15	13	3	0	1	0	1	0	0	1	6	1	4	4	5	2	1	4	5	1	1	rs147708297		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:17697820G>A	ENST00000353383.1	+	3	2027	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	RAI1_ENST00000261641.6_Missense_Mutation_p.G520S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	520					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTACCTGAGCGGCTCCGAGGA	0.687													G|||	1	0.000199681	8e-04	0	5008	,	,		16600	0		0	False		,,,				2504	0					uc002grm.3																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1558-1560)Ggc>Agc		Homo sapiens retinoic acid induced 1 (RAI1), mRNA.		G	SER/GLY	2,4404		0,2,2201	25	23	24		1558	5.1	1	17	dbSNP_134	24	0,8596		0,0,4298	no	missense	RAI1	NM_030665.3	56	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	520/1907	17697820	2,13000	2203	4298	6501	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697820G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1558G>A	17.37:g.17697820G>A	ENSP00000323074:p.Gly520Ser					RAI1_uc002grn.1_Missense_Mutation_p.G520S	p.G520S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	2	2027	+			520					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1558G>A	CCDS11188.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	18.95	3.730933	0.69074	4.54E-4	0.0	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.74209	-0.82;1.47;-0.23	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.31804	0.96	0.43708	D	0.996174	D	0.89917	1.0	D	0.91635	0.999	T	0.68591	-0.5368	10	0.06099	T	0.92	.	18.5342	0.91004	0.0:0.0:1.0:0.0	.	520	Q7Z5J4	RAI1_HUMAN	S	520;520;520;520;520;472	ENSP00000323074:G520S;ENSP00000379120:G520S;ENSP00000261641:G520S	ENSP00000261641:G520S	G	+	1	0	RAI1	17638545	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.390000	0.81377	0.561000	0.74099	GGC		0.687	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		A	17697820	G	A	17697820	3	1	228	1	0	0	0	0	1	0	0	0	13007	1116	39	2	1560	2	RAI1	17	17697820	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10119555	17697820	63497390	100	16008											
SLC13A2	9058	broad.mit.edu	37	chr17	26818573	26818573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgctactccgccagcatCgggggcatcgccacgctgac	6	7	13	15	4	0	1	0	1	0	0	3	1	1	1	3	2	3	4	3	2	1	1	rs146824818		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:26818573C>T	ENST00000314669.5	+	5	1113	c.693C>T	c.(691-693)atC>atT	p.I231I	SLC13A2_ENST00000545060.1_Silent_p.I188I|SLC13A2_ENST00000537681.1_Silent_p.I160I|SLC13A2_ENST00000444914.3_Silent_p.I280I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	231					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGCCAGCATCGGGGGCATCG	0.632																																						uc010wan.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(838-840)atC>atT		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	Succinic acid(DB00139)	C	,,	0,4406		0,0,2203	62	58	59		840,564,693	-0.8	1	17	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC13A2	NM_001145975.1,NM_001145976.1,NM_003984.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	280/642,188/550,231/593	26818573	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818573C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.693C>T	17.37:g.26818573C>T						SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.2_Silent_p.I187I|SLC13A2_uc002hbh.3_Silent_p.I231I|SLC13A2_uc010wao.2_Silent_p.I188I|SLC13A2_uc002hbi.3_Silent_p.I160I	p.I280I	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	907	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		231					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.840C>T	CCDS11231.1																																																																																				0.632	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		T	26818573	C	T	26818573	2	4	228	1	0	0	0	0	0	0	0	1	14392	874	31	2		2	SLC13A2	17	26818573	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	9120753	26818573	54376637	101	16009											
VAT1	3430	broad.mit.edu	37	chr17	41168349	41168349	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaagggccagactgagtcaAtgtggggcttgatgtggccc	8	8	16	9	1	1	3	1	2	0	1	1	4	1	3	2	4	0	1	2	4	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:41168349A>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000420567.3_Missense_Mutation_p.I224T|VAT1_ENST00000587173.1_Missense_Mutation_p.I290T|VAT1_ENST00000355653.3_Missense_Mutation_p.I358T	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GACTGAGTCAATGTGGGGCTT	0.607																																						uc002icm.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1072-1074)aTt>aCt		Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.							77	70	72					17																	41168349		2203	4300	6503	SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168349A>G	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168349A>G						VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	p.I358T	NM_006373	NP_006364	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	1193	-		Breast(137;0.000717)	358					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.1073T>C		.	.	.	.	.	.	.	.	.	.	A	15.91	2.973351	0.53614	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.13778	3.29;2.56	5.21	5.21	0.72293	.	0.048579	0.85682	D	0.000000	T	0.45895	0.1365	M	0.93763	3.455	0.53005	D	0.99996	D;P	0.71674	0.998;0.935	P;P	0.62813	0.907;0.756	T	0.61515	-0.7047	10	0.87932	D	0	-6.1419	15.0776	0.72087	1.0:0.0:0.0:0.0	.	290;358	B4DPX4;Q99536	.;VAT1_HUMAN	T	358;265;224	ENSP00000347872:I358T;ENSP00000408553:I224T	ENSP00000347872:I358T	I	-	2	0	VAT1	38421875	1.000000	0.71417	0.413000	0.26509	0.313000	0.28021	9.297000	0.96120	1.985000	0.57927	0.459000	0.35465	ATT		0.607	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		G	41168349	A	G	41168349	1	3	228	0	1	0	0	0	0	0	0	0	17126	101	4	4		4	VAT1	17	41168349	IGR	SNP	A	TCGA-32-2491-01A-01D-1353-08	14349776	41168349	40026861	102	16010											
GRIN2C	2905	broad.mit.edu	37	chr17	72851132	72851132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagctgctaaacaccaCagccaccgtcatgccctgct	9	7	7	18	1	1	1	1	1	0	0	1	1	1	1	5	0	6	3	5	0	2	1	rs185678892		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:72851132C>T	ENST00000293190.5	-	2	246	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	GRIN2C_ENST00000347612.4_Missense_Mutation_p.V34M|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	34					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTAAACACCACAGCCACCGTC	0.706																																						uc002jlt.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(100-102)Gtg>Atg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						22	26	24					17																	72851132		2200	4299	6499	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72851132C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.100G>A	17.37:g.72851132C>T	ENSP00000293190:p.Val34Met					GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.V34M|GRIN2C_uc002jlv.1_Missense_Mutation_p.V34M	p.V34M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			1	256	-	all_lung(278;0.172)|Lung NSC(278;0.207)		34					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.100G>A	CCDS32724.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.55	1.381823	0.24944	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.15718	2.4	4.49	3.5	0.40072	.	0.266904	0.30455	N	0.009600	T	0.31295	0.0792	M	0.64997	1.995	0.38511	D	0.948475	D;P;P	0.63880	0.993;0.921;0.923	P;P;P	0.60682	0.878;0.58;0.714	T	0.11275	-1.0594	10	0.66056	D	0.02	.	8.6494	0.34025	0.0:0.7661:0.1517:0.0822	.	34;68;34	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	M	34;68	ENSP00000293190:V34M	ENSP00000293190:V34M	V	-	1	0	GRIN2C	70362727	0.931000	0.31567	0.987000	0.45799	0.557000	0.35523	1.974000	0.40559	1.077000	0.40990	0.557000	0.71058	GTG		0.706	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			T	72851132	C	T	72851132	3	4	228	1	0	0	0	0	1	0	0	0	6781	478	17	3	3649	3	GRIN2C	17	72851132	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	31682783	72851132	8344078	103	16011											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661249	8661249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaatgtcctcattgaCgctgcagcttctctcgcgct	6	11	9	15	3	2	1	1	1	1	0	5	1	3	1	2	1	2	4	2	1	1	2	rs377333794		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:8661249C>T	ENST00000597188.1	-	10	1402	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V378I|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCTCATTGACGCTGCAGCTT	0.662																																						uc002mkj.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1132-1134)Gtc>Atc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.		C	ILE/VAL	0,4406		0,0,2203	45	37	40		1132	1.5	1	19		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS10	NM_030957.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	378/1104	8661249	1,13005	2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661249C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1132G>A	19.37:g.8661249C>T	ENSP00000471851:p.Val378Ile					ADAMTS10_uc002mkk.1_Missense_Mutation_p.V10I	p.V378I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			9	1406	-			378			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1132G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.899991	0.02472	0.0	1.16E-4	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.66099	-0.19	4.76	1.53	0.23141	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.196839	0.41605	N	0.000854	T	0.23451	0.0567	N	0.01109	-1.01	0.31090	N	0.710905	B;B	0.14805	0.011;0.001	B;B	0.15052	0.012;0.001	T	0.38415	-0.9662	10	0.02654	T	1	.	7.8111	0.29232	0.0:0.2488:0.0:0.7512	.	132;378	Q59FE5;Q9H324	.;ATS10_HUMAN	I	378;132	ENSP00000270328:V378I	ENSP00000270328:V378I	V	-	1	0	ADAMTS10	8567249	1.000000	0.71417	0.996000	0.52242	0.477000	0.33069	2.399000	0.44495	0.044000	0.15775	-0.391000	0.06502	GTC		0.662	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8661249	C	T	8661249	3	4	228	1	0	0	0	0	1	0	0	0	256	536	19	1	2247	1	ADAMTS10	19	8661249	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		8661249	50467734	104	16012											
MUC16	94025	broad.mit.edu	37	chr19	9050207	9050207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtcttcagagctgtggtgGtggtctccattctttttgtc	3	18	12	8	0	4	1	1	0	3	1	6	1	4	1	1	4	1	1	1	4	0	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:9050207G>A	ENST00000397910.4	-	5	31627	c.31424C>T	c.(31423-31425)aCc>aTc	p.T10475I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10477	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTGGTGGTGGTCTCCAT	0.483																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31423-31425)aCc>aTc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							365	362	363					19																	9050207		2103	4213	6316	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9050207G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31424C>T	19.37:g.9050207G>A	ENSP00000381008:p.Thr10475Ile						p.T10475I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	31628	-			10477			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31424C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.258	0.604637	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.77	1.59	0.23543	.	.	.	.	.	T	0.07279	0.0184	L	0.40543	1.245	.	.	.	D	0.76494	0.999	D	0.80764	0.994	T	0.22941	-1.0202	8	0.87932	D	0	.	5.1426	0.14967	0.1159:0.2133:0.6708:0.0	.	10475	B5ME49	.	I	10475	ENSP00000381008:T10475I	ENSP00000381008:T10475I	T	-	2	0	MUC16	8911207	0.002000	0.14202	0.016000	0.15963	0.045000	0.14185	1.025000	0.30090	0.559000	0.29153	0.580000	0.79431	ACC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9050207	G	A	9050207	3	1	228	1	0	0	0	0	1	0	0	0	9973	1261	44	3	12419	3	MUC16	19	9050207	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	388958	9050207	50078776	105	16013											
RAVER1	125950	broad.mit.edu	37	chr19	10434234	10434234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctgcccatcctggccGcacgccagctgccggaggaa	7	6	12	16	3	1	0	1	0	0	0	2	2	2	2	5	3	4	3	5	3	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:10434234G>A	ENST00000293677.6	-	4	897	c.816C>T	c.(814-816)tgC>tgT	p.C272C	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(814-816)tgC>tgT		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							23	27	26					19																	10434234		2187	4275	6462	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434234G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.816C>T	19.37:g.10434234G>A							p.C272C	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	896	-			255			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.816C>T	CCDS45960.1																																																																																				0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		A	10434234	G	A	10434234	2	1	228	1	0	0	0	0	0	0	0	1	13094	1079	38	1		1	RAVER1	19	10434234	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	1384027	10434234	48694749	106	16014											
CYP4F8	11283	broad.mit.edu	37	chr19	15739191	15739191	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccccaatccctacattcGcccgcggctgcacccaggac	8	6	7	20	3	0	0	0	0	0	0	3	1	2	1	5	2	2	2	5	2	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15739191G>A	ENST00000441682.2	+	0	1256							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCTACATTCGCCCGCGGCTG	0.637																																						uc002nbi.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						c.(1192-1194)Gcc>Acc		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.							65	75	71					19																	15739191		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739191G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739191G>A						CYP4F8_uc010xoj.2_Missense_Mutation_p.A211T	p.A398T	NM_007253	NP_009184	P98187	CP4F8_HUMAN			10	1256	+			399						Missense_Mutation	SNP	ENST00000441682.2	37	c.1192G>A		.	.	.	.	.	.	.	.	.	.	.	2.731	-0.264411	0.05754	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	-1.92	0.07618	.	0.613631	0.15571	N	0.255457	T	0.22044	0.0531	.	.	.	0.20563	N	0.999885	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.09574	-1.0668	7	0.45353	T	0.12	.	0.8169	0.01104	0.3168:0.1083:0.309:0.2659	.	211;399	B4DU85;P98187	.;CP4F8_HUMAN	T	398;211;248	.	ENSP00000314398:A211T	A	+	1	0	CYP4F8	15600191	0.000000	0.05858	0.054000	0.19295	0.001000	0.01503	0.109000	0.15417	-0.296000	0.08947	-2.243000	0.00286	GCC		0.637	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		A	15739191	G	A	15739191	1	1	228	0	1	0	0	0	0	0	0	0	4191	1087	38	1		1	CYP4F8	19	15739191	RNA	SNP	G	TCGA-32-2491-01A-01D-1353-08	5304957	15739191	43389792	107	16015											
OR10H1	26539	broad.mit.edu	37	chr19	15918727	15918727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatgatgagcaggttgcCcagcagcgtgaacaggtaca	11	6	14	10	1	0	3	0	3	0	0	0	3	0	3	2	3	6	4	2	3	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15918727C>A	ENST00000334920.2	-	1	209	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGGTTGCCCAGCAGCGTG	0.597																																						uc002nbq.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(121-123)Ggc>Tgc		Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.							136	118	124					19																	15918727		2203	4297	6500	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918727C>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.121G>T	19.37:g.15918727C>A	ENSP00000335596:p.Gly41Cys						p.G41C	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			0	210	-			41					Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.121G>T	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	c	17.77	3.470252	0.63625	.	.	ENSG00000186723	ENST00000334920	T	0.04454	3.62	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.28034	0.0691	H	0.95745	3.715	0.34335	D	0.688137	D	0.89917	1.0	D	0.97110	1.0	T	0.52290	-0.8595	10	0.72032	D	0.01	.	8.4824	0.33052	0.0:0.8921:0.0:0.1079	.	41	Q9Y4A9	O10H1_HUMAN	C	41	ENSP00000335596:G41C	ENSP00000335596:G41C	G	-	1	0	OR10H1	15779727	0.145000	0.22656	1.000000	0.80357	0.994000	0.84299	3.905000	0.56333	2.040000	0.60383	0.643000	0.83706	GGC		0.597	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			A	15918727	C	A	15918727	3	1	228	1	0	0	0	0	1	0	0	0	10905	623	22	5	839	5	OR10H1	19	15918727	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	179536	15918727	43210256	108	16016											
EPS15L1	58513	broad.mit.edu	37	chr19	16515514	16515514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgtttctgagcctcgAgctcctgcaaactgcttgtt	6	14	8	13	1	1	1	0	1	1	0	4	2	3	1	3	0	5	5	3	0	1	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:16515514A>G	ENST00000248070.6	-	14	1452	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P	EPS15L1_ENST00000597937.1_Missense_Mutation_p.L438P|EPS15L1_ENST00000602009.1_Missense_Mutation_p.L284P|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L438P|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L438P|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L438P	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	438					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGAGCCTCGAGCTCCTGCAA	0.542																																						uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(1312-1314)cTc>cCc		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							113	88	97					19																	16515514		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16515514A>G	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1313T>C	19.37:g.16515514A>G	ENSP00000248070:p.Leu438Pro					EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc002ndz.1_Missense_Mutation_p.L438P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	p.L438P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			13	1319	-			438					A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.1313T>C	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861459	0.71949	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;D;D	0.85013	1.56;-1.93;-1.93	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.92044	0.7479	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;1.0	D	0.92613	0.6101	10	0.54805	T	0.06	.	14.0495	0.64727	1.0:0.0:0.0:0.0	.	438;438;437;438;438;438	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	P	438	ENSP00000393313:L438P;ENSP00000248070:L438P;ENSP00000440103:L438P	ENSP00000248070:L438P	L	-	2	0	EPS15L1	16376514	0.999000	0.42202	0.837000	0.33122	0.661000	0.39034	7.341000	0.79300	1.918000	0.55548	0.533000	0.62120	CTC		0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		G	16515514	A	G	16515514	3	3	228	1	0	0	0	0	1	0	0	0	5193	304	11	4	1321	4	EPS15L1	19	16515514	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	596787	16515514	42613469	109	16017											
PRX	57716	broad.mit.edu	37	chr19	40901148	40901148	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagccacccctggcactagTtctgctgcctcagtgtcccg	5	10	9	17	1	3	0	2	0	1	0	4	0	4	0	5	1	3	3	5	1	1	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:40901148T>C	ENST00000324001.7	-	7	3381	c.3111A>G	c.(3109-3111)gaA>gaG	p.E1037E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1037					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGCACTAGTTCTGCTGCCT	0.627																																						uc002onr.3																			0		p.E1037Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(3109-3111)gaA>gaG		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.							60	54	56					19																	40901148		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901148T>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3111A>G	19.37:g.40901148T>C						PRX_uc002onq.3_Silent_p.E898E|PRX_uc002ons.3_3'UTR	p.E1037E	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	3380	-			1037					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.3111A>G	CCDS33028.1																																																																																				0.627	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		C	40901148	T	C	40901148	2	2	228	1	0	0	0	0	0	0	0	1	12642	1722	60	4		4	PRX	19	40901148	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	24385634	40901148	18227835	110	16018											
C19orf54	284325	broad.mit.edu	37	chr19	41248416	41248416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccacccacgggcaccacGtacacccggccgtcagtggc	8	3	10	20	4	1	0	1	0	0	0	1	0	1	0	6	3	1	2	6	3	1	1	rs372869249		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:41248416G>A	ENST00000378313.2	-	6	1097	c.978C>T	c.(976-978)taC>taT	p.Y326Y	C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598729.1_Silent_p.Y154Y|C19orf54_ENST00000598485.2_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	326										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGCACCACGTACACCCGGC	0.662																																						uc002oou.1																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(976-978)taC>taT		Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.		G		1,4399		0,1,2199	27	27	27		978	-3.3	0.5	19		27	0,8594		0,0,4297	no	coding-synonymous	C19orf54	NM_198476.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		326/352	41248416	1,12993	2200	4297	6497	SO:0001819	synonymous_variant	284325							g.chr19:41248416G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.978C>T	19.37:g.41248416G>A						C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	p.Y326Y	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	1098	-			326					A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	c.978C>T	CCDS12564.2																																																																																				0.662	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		A	41248416	G	A	41248416	2	1	228	1	0	0	0	0	0	0	0	1	1936	1140	40	1		1	C19orf54	19	41248416	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	347268	41248416	17880567	111	16019											
FOXA3	3171	broad.mit.edu	37	chr19	46375547	46375547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgggtacggggcccCgggtcctgggctggtgcacg	3	6	18	14	4	0	0	0	0	0	0	2	0	2	0	4	6	3	4	4	6	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:46375547C>T	ENST00000302177.2	+	2	481	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	95					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACGGGGCCCCGGGTCCTGGG	0.682																																						uc002pdr.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(283-285)cCg>cTg		Homo sapiens forkhead box A3 (FOXA3), mRNA.							22	25	24					19																	46375547		2203	4298	6501	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375547C>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.284C>T	19.37:g.46375547C>T	ENSP00000304004:p.Pro95Leu						p.P95L	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	1	481	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	95					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.284C>T	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	C	5.888	0.348017	0.11126	.	.	ENSG00000170608	ENST00000302177	T	0.15718	2.4	4.09	4.09	0.47781	Fork-head N-terminal (1);	0.571490	0.13606	N	0.375503	T	0.09730	0.0239	N	0.19112	0.55	0.47905	D	0.999544	B	0.33288	0.406	B	0.22880	0.042	T	0.18555	-1.0333	10	0.11485	T	0.65	.	13.8403	0.63435	0.0:1.0:0.0:0.0	.	95	P55318	FOXA3_HUMAN	L	95	ENSP00000304004:P95L	ENSP00000304004:P95L	P	+	2	0	FOXA3	51067387	0.000000	0.05858	0.130000	0.21974	0.490000	0.33462	0.703000	0.25646	2.124000	0.65301	0.297000	0.19635	CCG		0.682	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			T	46375547	C	T	46375547	3	4	228	1	0	0	0	0	1	0	0	0	5991	652	23	2	290	2	FOXA3	19	46375547	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5127131	46375547	12753436	112	16020											
MYH14	79784	broad.mit.edu	37	chr19	50713834	50713834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaggcggcggcgctgcGggacgaaggcgaggaggagg	7	3	23	8	7	0	0	0	0	0	0	1	6	0	3	0	8	1	2	0	8	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:50713834G>A	ENST00000596571.1	+	1	212	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	MYH14_ENST00000425460.1_Missense_Mutation_p.R71Q|MYH14_ENST00000376970.2_Missense_Mutation_p.R71Q|MYH14_ENST00000440075.2_Missense_Mutation_p.R71Q|MYH14_ENST00000262269.8_Missense_Mutation_p.R71Q|MYH14_ENST00000598205.1_Missense_Mutation_p.R71Q|MYH14_ENST00000601313.1_Missense_Mutation_p.R71Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	71					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCGCTGCGGGACGAAGGC	0.736																																						uc010enu.1																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(211-213)cGg>cAg		Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.							7	12	10					19																	50713834		2062	4141	6203	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50713834G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.212G>A	19.37:g.50713834G>A	ENSP00000472819:p.Arg71Gln					MYH14_uc002prq.1_Missense_Mutation_p.R71Q|MYH14_uc002prr.1_Missense_Mutation_p.R71Q	p.R71Q	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	1	259	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	71			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.212G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953703	0.34471	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.85861	-2.04;-2.04;-2.02;-2.04	4.65	3.59	0.41128	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.74268	0.3694	N	0.14661	0.345	0.23700	N	0.997074	B;B;P	0.41524	0.145;0.302;0.753	B;B;P	0.46275	0.068;0.112;0.51	T	0.62020	-0.6942	9	0.15066	T	0.55	.	5.8724	0.18810	0.0971:0.0:0.7101:0.1927	.	71;71;71	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	71	ENSP00000406273:R71Q;ENSP00000366169:R71Q;ENSP00000407879:R71Q;ENSP00000262269:R71Q	ENSP00000262269:R71Q	R	+	2	0	MYH14	55405646	0.000000	0.05858	0.808000	0.32385	0.601000	0.36947	0.649000	0.24843	1.295000	0.44724	0.555000	0.69702	CGG		0.736	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50713834	G	A	50713834	3	1	228	1	0	0	0	0	1	0	0	0	10033	1116	39	2	214	2	MYH14	19	50713834	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4338287	50713834	8415149	113	16021											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	17	9	6	0	1	2	0	2	1	0	2	3	1	3	2	2	1	3	2	2	3	6			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	uc002qbc.2																			0		p.E566*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_uc002qbb.2_Silent_p.G565G|ZNF347_uc010eql.2_Silent_p.G566G	p.G566G	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	4	2125	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		A	53644386	T	A	53644386	2	1	228	1	0	0	0	0	0	0	0	1	17858	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	2930552	53644386	5484597	114	16022											
BIRC8	112401	broad.mit.edu	37	chr19	53793037	53793037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggaataaaaacaacagcGatatgtctgtccatgcagat	17	8	8	8	1	1	1	0	0	1	1	2	3	2	2	1	1	4	1	1	1	7	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53793037G>A	ENST00000426466.1	-	1	1838	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	197					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAACAACAGCGATATGTCTGT	0.443																																						uc002qbk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(589-591)atC>atT		Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.							112	112	112					19																	53793037		2203	4300	6503	SO:0001819	synonymous_variant	112401				apoptosis		zinc ion binding	g.chr19:53793037G>A	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.591C>T	19.37:g.53793037G>A							p.I197I	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	0	1839	-			197					Q6IPY1|Q96RW5	Silent	SNP	ENST00000426466.1	37	c.591C>T	CCDS12863.1																																																																																				0.443	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		A	53793037	G	A	53793037	2	1	228	1	0	0	0	0	0	0	0	1	1440	1048	37	2		2	BIRC8	19	53793037	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	148651	53793037	5335946	115	16023											
C20orf118	140711	broad.mit.edu	37	chr20	35507541	35507541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagagcctgtaccggcGgatggagggctgcagcgggc	6	5	18	12	3	0	1	0	0	0	1	0	3	0	3	3	5	5	4	3	5	1	1	rs147682253		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:35507541G>A	ENST00000217320.3	+	3	331	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	TLDC2_ENST00000602922.1_Missense_Mutation_p.R96Q	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	96	TLD.																CTGTACCGGCGGATGGAGGGC	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		16990	0		0	False		,,,				2504	0					uc002xgg.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9						c.(286-288)cGg>cAg		Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.		G	GLN/ARG	0,4406		0,0,2203	56	48	50		287	2.8	1	20	dbSNP_134	50	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C20orf118	NM_080628.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	96/216	35507541	3,13003	2203	4300	6503	SO:0001583	missense	140711							g.chr20:35507541G>A	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.287G>A	20.37:g.35507541G>A	ENSP00000217320:p.Arg96Gln					C20orf118_uc021wcz.1_Missense_Mutation_p.R96Q	p.R96Q	NM_080628	NP_542195	A0PJX2	CT118_HUMAN			2	295	+		Myeloproliferative disorder(115;0.00874)	96			TLD.		B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.287G>A	CCDS33465.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.91	1.779633	0.31502	0.0	3.49E-4	ENSG00000101342	ENST00000217320	T	0.43294	0.95	5.09	2.8	0.32819	TLDc (2);	0.434950	0.25161	N	0.032667	T	0.23451	0.0567	N	0.20807	0.61	0.25042	N	0.991192	B	0.16166	0.016	B	0.13407	0.009	T	0.10222	-1.0639	10	0.37606	T	0.19	-18.2428	5.183	0.15169	0.7535:0.0:0.2465:0.0	.	96	A0PJX2	CT118_HUMAN	Q	96	ENSP00000217320:R96Q	ENSP00000217320:R96Q	R	+	2	0	C20orf118	34940955	0.993000	0.37304	1.000000	0.80357	0.920000	0.55202	0.953000	0.29162	0.982000	0.38575	-0.302000	0.09304	CGG		0.667	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		A	35507541	G	A	35507541	3	1	228	1	0	0	0	0	1	0	0	0	2084	1116	39	2	297	2	C20orf118	20	35507541	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		35507541	27517979	116	16024											
NEURL2	140825	broad.mit.edu	37	chr20	44519558	44519558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgcacccgatggaagcGggtgggagggggctccgggc	6	4	20	11	4	0	0	0	0	0	0	1	3	1	2	3	6	2	2	3	6	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:44519558G>A	ENST00000372518.4	-	1	368	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	CTSA_ENST00000191018.5_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000354880.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	25	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGATGGAAGCGGGTGGGAGGG	0.711																																						uc002xqg.1																			0				large_intestine(1)|lung(2)	3						c.(73-75)Cgc>Tgc		Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.							4	4	4					20																	44519558		1863	3785	5648	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519558G>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"chromosome 20 open reading frame 163", "neuralized-like 2 (Drosophila)", "neuralized homolog 2 (Drosophila)"	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.73C>T	20.37:g.44519558G>A	ENSP00000361596:p.Arg25Cys					CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	p.R25C	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			0	344	-		Myeloproliferative disorder(115;0.0122)	25			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.73C>T	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809583	0.90707	.	.	ENSG00000124257	ENST00000372518	T	0.53857	0.6	4.88	4.88	0.63580	NEUZ (2);	0.301676	0.33515	N	0.004827	T	0.70824	0.3268	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.73905	-0.3835	9	.	.	.	-29.8625	16.3855	0.83503	0.0:0.0:1.0:0.0	.	25	Q9BR09	NEUL2_HUMAN	C	25	ENSP00000361596:R25C	.	R	-	1	0	NEURL2	43952965	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.626000	0.54245	2.526000	0.85167	0.561000	0.74099	CGC		0.711	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			A	44519558	G	A	44519558	3	1	228	1	0	0	0	0	1	0	0	0	10346	1116	39	2	792	2	NEURL2	20	44519558	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	9012017	44519558	18505962	117	16025											
NFATC2	4773	broad.mit.edu	37	chr20	50140360	50140360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaccccggccaggggCggctgctccaccaggaggcc	5	2	16	18	3	0	0	0	0	0	0	1	1	1	1	7	7	1	2	7	7	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:50140360C>T	ENST00000396009.3	-	2	639	c.420G>A	c.(418-420)ccG>ccA	p.P140P	NFATC2_ENST00000609943.1_Silent_p.P120P|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Silent_p.P140P|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Silent_p.P120P	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	140	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCAGGGGCGGCTGCTCCA	0.721																																						uc002xwd.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(418-420)ccG>ccA		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							8	11	10					20																	50140360		2168	4203	6371	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140360C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.420G>A	20.37:g.50140360C>T						NFATC2_uc002xwc.3_Silent_p.P140P|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.P120P|NFATC2_uc010zyx.2_Silent_p.P120P|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	p.P140P	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			1	640	-	Hepatocellular(150;0.248)		140			Trans-activation domain A (TAD-A).		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.420G>A	CCDS13437.1																																																																																				0.721	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		T	50140360	C	T	50140360	2	4	228	1	0	0	0	0	0	0	0	1	10362	755	27	1		1	NFATC2	20	50140360	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	5620802	50140360	12885160	118	16026											
LAMA5	3911	broad.mit.edu	37	chr20	60912694	60912694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcacacatgtgtcacaccGcagccccgtcacacggggcc	8	4	12	17	3	2	0	2	0	0	0	2	0	2	0	4	3	1	2	4	3	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:60912694G>A	ENST00000252999.3	-	16	2182	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	706	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTGTCACACCGCAGCCCCGTC	0.667																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2116-2118)Cgg>Tgg		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39	35	37					20																	60912694		2196	4297	6493	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60912694G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2116C>T	20.37:g.60912694G>A	ENSP00000252999:p.Arg706Trp					LAMA5_uc021wfw.1_Missense_Mutation_p.R706W	p.R706W	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		15	2183	-	Breast(26;1.57e-08)		706			Laminin EGF-like 8.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2116C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124334	0.56613	.	.	ENSG00000130702	ENST00000252999	T	0.63417	-0.04	4.89	4.89	0.63831	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.169018	0.50627	D	0.000115	D	0.83880	0.5350	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	D	0.89126	0.3506	10	0.72032	D	0.01	.	18.0487	0.89341	0.0:0.0:1.0:0.0	.	706	O15230	LAMA5_HUMAN	W	706	ENSP00000252999:R706W	ENSP00000252999:R706W	R	-	1	2	LAMA5	60346089	0.006000	0.16342	0.423000	0.26634	0.412000	0.31113	1.537000	0.36083	2.249000	0.74217	0.650000	0.86243	CGG		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60912694	G	A	60912694	3	1	228	1	0	0	0	0	1	0	0	0	8609	1086	38	1	9231	1	LAMA5	20	60912694	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10772334	60912694	2112826	119	16027											
APP	351	broad.mit.edu	37	chr21	27369692	27369692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacgtttaacaggatctcggGcaagaggttcctgggtagtc	9	11	13	8	2	1	1	0	0	1	1	4	2	2	2	1	4	2	4	1	4	4	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr21:27369692G>A	ENST00000346798.3	-	8	1106	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	APP_ENST00000448388.2_Intron|APP_ENST00000354192.3_Intron|APP_ENST00000359726.3_Missense_Mutation_p.A302V|APP_ENST00000357903.3_Intron|APP_ENST00000440126.3_Intron|APP_ENST00000439274.2_Missense_Mutation_p.A302V|APP_ENST00000348990.5_Intron|APP_ENST00000358918.3_Missense_Mutation_p.A358V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	358					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGATCTCGGGCAAGAGGTTC	0.438																																						uc002ylz.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1072-1074)gCc>gTc		Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.							120	108	112					21																	27369692		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27369692G>A	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1073C>T	21.37:g.27369692G>A	ENSP00000284981:p.Ala358Val					APP_uc010glk.3_Intron|APP_uc002yma.3_Intron|APP_uc011ach.2_Missense_Mutation_p.A302V|APP_uc021whz.1_Missense_Mutation_p.A358V|APP_uc021wia.1_Intron|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	p.A358V	NM_000484	NP_000475	P05067	A4_HUMAN			7	1273	-		Breast(209;0.00295)	358					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1073C>T	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417557	0.25552	.	.	ENSG00000142192	ENST00000346798;ENST00000358918;ENST00000359726;ENST00000439274	D;D;D;D	0.96136	-1.95;-1.8;-3.92;-1.95	4.35	4.35	0.52113	.	0.543053	0.18633	N	0.135534	D	0.87253	0.6131	N	0.03608	-0.345	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.82315	-0.0518	10	0.28530	T	0.3	-5.672	12.6867	0.56952	0.0:0.0:1.0:0.0	.	302;358	E9PG40;P05067	.;A4_HUMAN	V	358;358;302;302	ENSP00000284981:A358V;ENSP00000351796:A358V;ENSP00000352760:A302V;ENSP00000398879:A302V	ENSP00000284981:A358V	A	-	2	0	APP	26291563	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	3.817000	0.55668	2.723000	0.93209	0.655000	0.94253	GCC		0.438	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		A	27369692	G	A	27369692	3	1	228	1	0	0	0	0	1	0	0	0	815	1203	42	3	1283	3	APP	21	27369692	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		27369692	20760203	120	16028											
TOP3B	8940	broad.mit.edu	37	chr22	22317253	22317253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtactcatagagccgcCacgcgtcaccccctgcaaca	10	7	8	16	3	2	2	2	1	0	1	2	2	2	2	4	0	4	2	4	0	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:22317253C>A	ENST00000398793.2	-	12	1651	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	TOP3B_ENST00000413067.2_Missense_Mutation_p.W135L|TOP3B_ENST00000357179.5_Missense_Mutation_p.W406L	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	406					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATAGAGCCGCCACGCGTCACC	0.617																																						uc002zvs.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1216-1218)tGg>tTg		Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.							64	63	64					22																	22317253		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22317253C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1217G>T	22.37:g.22317253C>A	ENSP00000381773:p.Trp406Leu					TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.W406L|TOP3B_uc010gtl.3_Missense_Mutation_p.W406L	p.W406L	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	11	1652	-	Colorectal(54;0.105)		406					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1217G>T	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.963560|2.963560	0.53507|0.53507	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000457270|ENST00000357179;ENST00000398793;ENST00000413067	.|T;T;T	.|0.21031	.|2.03;2.03;2.03	4.59|4.59	4.59|4.59	0.56863|0.56863	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31358|0.31358	0.0794|0.0794	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25105	.|0.118;0.096	.|B;B	.|0.30782	.|0.12;0.073	T|T	0.19647|0.19647	-1.0299|-1.0299	5|10	.|0.52906	.|T	.|0.07	.|.	17.5949|17.5949	0.88009|0.88009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|406;406	.|O95985;O95985-2	.|TOP3B_HUMAN;.	C|L	201|406;406;135	.|ENSP00000349705:W406L;ENSP00000381773:W406L;ENSP00000393118:W135L	.|ENSP00000349705:W406L	G|W	-|-	1|2	0|0	TOP3B|TOP3B	20647253|20647253	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.476000|0.476000	0.33039|0.33039	7.038000|7.038000	0.76537|0.76537	2.368000|2.368000	0.80403|0.80403	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.617	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		A	22317253	C	A	22317253	3	1	228	1	0	0	0	0	1	0	0	0	16365	595	21	5	1399	5	TOP3B	22	22317253	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		22317253	28987313	121	16029											
ADRBK2	157	broad.mit.edu	37	chr22	26086159	26086159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctctttctgtttagccaGcaaatattctcttggatgaa	10	17	6	8	0	3	1	0	1	3	0	5	2	3	2	1	1	2	2	1	1	4	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:26086159G>A	ENST00000324198.6	+	12	1153	c.961G>A	c.(961-963)Gca>Aca	p.A321T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGTTTAGCCAGCAAATATTCT	0.398																																						uc003abx.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(961-963)Gca>Aca		Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	Adenosine triphosphate(DB00171)						100	95	97					22																	26086159		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26086159G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.961G>A	22.37:g.26086159G>A	ENSP00000317578:p.Ala321Thr					ADRBK2_uc010gux.3_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.4_Non-coding_Transcript	p.A321T	NM_005160	NP_005151	P35626	ARBK2_HUMAN			11	1108	+			321			Protein kinase.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.961G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771300	0.90108	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.25912	1.77	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	L	0.48174	1.505	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.72338	0.889;0.977	T	0.40831	-0.9542	10	0.66056	D	0.02	-21.3652	16.4417	0.83903	0.0:0.0:1.0:0.0	.	321;321	A8K869;P35626	.;ARBK2_HUMAN	T	321	ENSP00000317578:A321T	ENSP00000317578:A321T	A	+	1	0	ADRBK2	24416159	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	9.003000	0.93577	2.416000	0.81992	0.561000	0.74099	GCA		0.398	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		A	26086159	G	A	26086159	3	1	228	1	0	0	0	0	1	0	0	0	344	971	34	3	1007	3	ADRBK2	22	26086159	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	3768906	26086159	25218407	122	16030											
OSBP2	23762	broad.mit.edu	37	chr22	31137264	31137264	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccaggagctaccaccTcaaggccagctcagaggtgg	9	5	15	12	0	2	1	2	0	0	1	2	2	2	2	4	6	3	2	4	6	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31137264T>G	ENST00000332585.6	+	2	865	c.761T>G	c.(760-762)cTc>cGc	p.L254R	OSBP2_ENST00000382310.3_Missense_Mutation_p.L254R|OSBP2_ENST00000403222.3_Missense_Mutation_p.L89R|OSBP2_ENST00000446658.2_Missense_Mutation_p.L254R|OSBP2_ENST00000407373.1_Missense_Mutation_p.L81R	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	254	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCTACCACCTCAAGGCCAGC	0.612																																						uc003aiy.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(760-762)cTc>cGc		Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.							39	43	42					22																	31137264		2049	4172	6221	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31137264T>G		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.761T>G	22.37:g.31137264T>G	ENSP00000332576:p.Leu254Arg					OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	p.L254R	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	865	+			254			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.761T>G	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496609	0.85069	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.80994	0.03;0.03;-1.44;-1.44;-1.44	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.94082	0.8103	H	0.99143	4.445	0.80722	D	1	P;D;D;D;D	0.89917	0.756;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.739;0.999;0.999;1.0;1.0	D	0.96134	0.9095	10	0.59425	D	0.04	-12.8963	14.6853	0.69044	0.0:0.0:0.0:1.0	.	254;89;81;254;254	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	R	89;89;81;254;254;254	ENSP00000384213:L89R;ENSP00000385237:L81R;ENSP00000332576:L254R;ENSP00000371747:L254R;ENSP00000392080:L254R	ENSP00000332576:L254R	L	+	2	0	OSBP2	29467264	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.040000	0.89188	1.952000	0.56665	0.379000	0.24179	CTC		0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		G	31137264	T	G	31137264	3	3	228	1	0	0	0	0	1	0	0	0	11274	1551	54	5	767	5	OSBP2	22	31137264	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	5051105	31137264	20167302	123	16031											
MORC2	22880	broad.mit.edu	37	chr22	31336801	31336801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccgcacgggtcttgaaaCggcttgacgtgtacttgtac	7	11	12	11	4	1	2	0	2	1	0	2	2	2	2	1	2	3	5	1	2	3	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31336801C>T	ENST00000397641.3	-	10	1256	c.848G>A	c.(847-849)cGt>cAt	p.R283H	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.R221H			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	283						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCTTGAAACGGCTTGACGT	0.567																																						uc003aje.1																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(661-663)cGt>cAt		Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.							271	210	231					22																	31336801		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31336801C>T	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.848G>A	22.37:g.31336801C>T	ENSP00000380763:p.Arg283His						p.R221H	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			10	2026	-			283					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.662G>A		.	.	.	.	.	.	.	.	.	.	C	24.3	4.510917	0.85389	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.13089	2.62;2.62	5.82	5.82	0.92795	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.09975	-1.0650	10	0.56958	D	0.05	.	20.0926	0.97825	0.0:1.0:0.0:0.0	.	283	Q9Y6X9	MORC2_HUMAN	H	283;221	ENSP00000380763:R283H;ENSP00000215862:R221H	ENSP00000215862:R221H	R	-	2	0	MORC2	29666801	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.459000	0.80802	2.745000	0.94114	0.561000	0.74099	CGT		0.567	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		T	31336801	C	T	31336801	3	4	228	1	0	0	0	0	1	0	0	0	9702	536	19	1	2318	1	MORC2	22	31336801	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	199537	31336801	19967765	124	16032											
DACH2	117154	broad.mit.edu	37	chrX	85403790	85403790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaccacagcaacagtgccGgaggcggcggcaggggcaac	12	2	15	12	3	0	0	0	0	0	0	0	1	0	1	2	6	5	3	2	6	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:85403790G>A	ENST00000373125.4	+	1	166	c.166G>A	c.(166-168)Gga>Aga	p.G56R	DACH2_ENST00000373131.1_Missense_Mutation_p.G56R	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	56	Poly-Gly.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G56R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAACAGTGCCGGAGGCGGCGG	0.567																																						uc004eew.2																			2	Substitution - Missense(2)	p.G56R(3)	large_intestine(2)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(166-168)Gga>Aga		Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.							67	53	58					X																	85403790		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85403790G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.166G>A	X.37:g.85403790G>A	ENSP00000362217:p.Gly56Arg					DACH2_uc004eex.2_Missense_Mutation_p.G56R|DACH2_uc010nmq.2_5'UTR	p.G56R	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN			0	336	+			56			Poly-Gly.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.166G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415210	0.01136	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.83419	-1.72;-1.72	4.28	0.109	0.14578	DNA binding domain, putative (1);Transforming protein Ski (1);	0.772618	0.10896	N	0.622141	T	0.66799	0.2826	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.54050	-0.8351	10	0.51188	T	0.08	.	1.6564	0.02782	0.2698:0.134:0.457:0.1391	.	56;56	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	R	56	ENSP00000362223:G56R;ENSP00000362217:G56R	ENSP00000345134:G56R	G	+	1	0	DACH2	85290446	0.645000	0.27286	0.000000	0.03702	0.039000	0.13416	0.723000	0.25939	-0.035000	0.13691	-0.276000	0.10085	GGA		0.567	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		A	85403790	G	A	85403790	3	1	228	1	0	0	0	0	1	0	0	0	4221	1117	39	2	168	2	DACH2	23	85403790	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		85403790	69866770	125	16033											
SRPX2	27286	broad.mit.edu	37	chrX	99925877	99925877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtattgaccgagaccgcTacatggaacctgtcaccccc	10	7	10	14	2	1	2	1	1	0	1	1	4	1	3	5	2	2	2	5	2	3	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:99925877T>C	ENST00000373004.3	+	11	1719	c.1291T>C	c.(1291-1293)Tac>Cac	p.Y431H	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	431					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCGAGACCGCTACATGGAACC	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004egb.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1291-1293)Tac>Cac		Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.							159	122	135					X																	99925877		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925877T>C	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1291T>C	X.37:g.99925877T>C	ENSP00000362095:p.Tyr431His		OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.Y431H	NM_014467	NP_055282	O60687	SRPX2_HUMAN			10	1771	+			431					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1291T>C	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323245	0.81580	.	.	ENSG00000102359	ENST00000373004	T	0.44482	0.92	5.09	5.09	0.68999	.	0.055523	0.64402	D	0.000001	T	0.61148	0.2324	M	0.67397	2.05	0.53005	D	0.999965	D	0.76494	0.999	D	0.72338	0.977	T	0.62020	-0.6942	9	.	.	.	-13.7286	14.0189	0.64541	0.0:0.0:0.0:1.0	.	431	O60687	SRPX2_HUMAN	H	431	ENSP00000362095:Y431H	.	Y	+	1	0	SRPX2	99812533	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.038000	0.76537	1.885000	0.54596	0.425000	0.28330	TAC		0.512	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		C	99925877	T	C	99925877	3	2	228	1	0	0	0	0	1	0	0	0	15164	1522	53	4	1329	4	SRPX2	23	99925877	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	14522087	99925877	55344683	126	16034											
GPRASP2	114928	broad.mit.edu	37	chrX	101972268	101972268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttagctaagcaactacaagCccaaatagacaaccaaaatg	19	6	6	10	0	0	1	0	0	0	1	0	1	0	1	2	0	6	3	2	0	10	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:101972268C>G	ENST00000535209.1	+	4	3302	c.2471C>G	c.(2470-2472)gCc>gGc	p.A824G	GPRASP2_ENST00000543253.1_Missense_Mutation_p.A824G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	824						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAACTACAAGCCCAAATAGAC	0.403																																						uc022cbh.1																			0											c.(2470-2472)gCc>gGc		Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.							91	97	95					X																	101972268		2201	4287	6488	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101972268C>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2471C>G	X.37:g.101972268C>G	ENSP00000437394:p.Ala824Gly					ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.A824G	p.A824G	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN			0	2471	+			824					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2471C>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.739992	0.03088	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.30448	1.53;1.53;1.53	4.04	-2.92	0.05615	Armadillo-type fold (1);	1.597100	0.03893	N	0.279045	T	0.11110	0.0271	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27839	-1.0062	10	0.19590	T	0.45	1.4477	10.9186	0.47150	0.0:0.7114:0.0:0.2886	.	824	Q96D09	GASP2_HUMAN	G	824	ENSP00000437872:A824G;ENSP00000437394:A824G;ENSP00000339057:A824G	ENSP00000339057:A824G	A	+	2	0	GPRASP2	101858924	0.965000	0.33210	0.029000	0.17559	0.973000	0.67179	-0.032000	0.12266	-0.741000	0.04797	-0.322000	0.08575	GCC		0.403	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		G	101972268	C	G	101972268	3	3	228	1	0	0	0	0	1	0	0	0	6723	739	26	5	2473	5	GPRASP2	23	101972268	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	2046391	101972268	53298292	127	16035											
ZCCHC18	644353	broad.mit.edu	37	chrX	103359839	103359839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggaagcgaaaatacaCaacccgctgttcatattgtg	14	8	9	10	2	1	0	1	0	0	0	1	2	1	1	2	1	4	2	2	1	6	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:103359839C>G	ENST00000537356.3	+	2	2451	c.1037C>G	c.(1036-1038)aCa>aGa	p.T346R	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	346							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CGAAAATACACAACCCGCTGT	0.483																																						uc011msh.2																			0											c.(1036-1038)aCa>aGa		Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.							105	86	92					X																	103359839		692	1591	2283	SO:0001583	missense	644353						nucleic acid binding|zinc ion binding	g.chrX:103359839C>G	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1037C>G	X.37:g.103359839C>G	ENSP00000473824:p.Thr346Arg					SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	p.T346R	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN			2	2353	+			346						Missense_Mutation	SNP	ENST00000537356.3	37	c.1037C>G																																																																																					0.483	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		G	103359839	C	G	103359839	3	3	228	1	0	0	0	0	1	0	0	0	17583	478	17	5	1039	5	ZCCHC18	23	103359839	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1387571	103359839	51910721	128	16036											
SPEN	23013	broad.mit.edu	37	chr1	16260498	16260498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagaaaaaacagcacCtccagtgacaaacaactctg	18	7	6	10	0	1	3	0	1	1	2	2	3	2	3	2	0	4	1	2	0	7	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16260498C>G	ENST00000375759.3	+	11	7967	c.7763C>G	c.(7762-7764)cCt>cGt	p.P2588R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2588	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAACAGCACCTCCAGTGACA	0.522																																						uc001axk.1																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7762-7764)cCt>cGt		Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.							69	77	74					1																	16260498		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260498C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7763C>G	1.37:g.16260498C>G	ENSP00000364912:p.Pro2588Arg					SPEN_uc010obp.1_Missense_Mutation_p.P2547R	p.P2588R	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	10	7967	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2588			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7763C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401353	0.01165	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	5.38	0.841	0.18918	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.16289	0.015	T	0.44772	-0.9306	9	0.19147	T	0.46	-0.2068	2.8683	0.05609	0.2091:0.292:0.0:0.4988	.	2588	Q96T58	MINT_HUMAN	R	2588	ENSP00000364912:P2588R	ENSP00000364912:P2588R	P	+	2	0	SPEN	16133085	0.000000	0.05858	0.010000	0.14722	0.123000	0.20343	0.712000	0.25779	0.269000	0.21961	-0.224000	0.12420	CCT		0.522	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16260498	C	G	16260498	3	3	229	1	0	0	0	0	1	0	0	0	15037	681	24	5	7805	5	SPEN	1	16260498	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		16260498	232990123	1	16037											
CLCNKB	1188	broad.mit.edu	37	chr1	16377403	16377403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatctggactcgctgttcGacaaccactcctgggcgctg	7	9	11	14	3	1	0	0	0	1	0	4	2	2	1	2	2	2	4	2	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16377403G>A	ENST00000375679.4	+	12	1198	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	CLCNKB_ENST00000375667.3_Missense_Mutation_p.D194N	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	363					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTGTTCGACAACCACTC	0.672																																						uc001axx.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1087-1089)Gac>Aac		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)						43	47	46					1																	16377403		2202	4293	6495	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16377403G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1087G>A	1.37:g.16377403G>A	ENSP00000364831:p.Asp363Asn					CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Missense_Mutation_p.D194N|CLCNKA_uc001axy.4_Missense_Mutation_p.D194N	p.D363N	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1223	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	363					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1087G>A	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.109050	0.56398	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.94000	-3.33;-3.33	4.73	4.73	0.59995	Chloride channel, core (2);	0.046515	0.85682	D	0.000000	D	0.95487	0.8534	M	0.62088	1.915	0.52501	D	0.999957	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	D	0.95843	0.8868	10	0.72032	D	0.01	.	14.4521	0.67392	0.0:0.0:1.0:0.0	.	194;363	Q5T5Q7;P51801	.;CLCKB_HUMAN	N	363;235;194	ENSP00000364831:D363N;ENSP00000364819:D194N	ENSP00000332055:D235N	D	+	1	0	CLCNKB	16249990	1.000000	0.71417	0.716000	0.30569	0.043000	0.13939	6.164000	0.71885	2.172000	0.68678	0.561000	0.74099	GAC		0.672	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		A	16377403	G	A	16377403	3	1	229	1	0	0	0	0	1	0	0	0	3470	1058	37	2	1277	2	CLCNKB	1	16377403	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	116905	16377403	232873218	2	16038											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140914	22140914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcggaactgtgcgggCagacgtggcagggggacggg	7	4	21	9	4	0	1	0	0	0	1	0	3	0	3	1	7	2	2	1	7	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22140914C>G	ENST00000344642.2	+	2	296	c.109C>G	c.(109-111)Cag>Gag	p.Q37E	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.Q37E	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	37						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACTGTGCGGGCAGACGTGGCA	0.701																																						uc001bfg.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(109-111)Cag>Gag		Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.							11	12	12					1																	22140914		2063	4100	6163	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22140914C>G	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.109C>G	1.37:g.22140914C>G	ENSP00000340988:p.Gln37Glu						p.Q37E	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	1	296	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	37					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.109C>G	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994154	0.54041	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.50001	0.76;0.76	4.28	4.28	0.50868	CUB (2);	0.682462	0.12352	N	0.476517	T	0.33235	0.0856	L	0.38175	1.15	0.33517	D	0.591901	B	0.32918	0.39	B	0.27380	0.079	T	0.28038	-1.0056	10	0.02654	T	1	-1.225	14.2354	0.65922	0.0:1.0:0.0:0.0	.	37	Q5SZI1	LRAD2_HUMAN	E	37	ENSP00000340988:Q37E;ENSP00000444097:Q37E	ENSP00000340988:Q37E	Q	+	1	0	LDLRAD2	22013501	1.000000	0.71417	0.815000	0.32552	0.443000	0.32047	6.243000	0.72384	2.227000	0.72691	0.297000	0.19635	CAG		0.701	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		G	22140914	C	G	22140914	3	3	229	1	0	0	0	0	1	0	0	0	8706	711	25	5	115	5	LDLRAD2	1	22140914	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	5763511	22140914	227109707	3	16039											
HSPG2	3339	broad.mit.edu	37	chr1	22165399	22165399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagcggcctgagtcctcagGggctgcacgctcaaagtgca	8	7	14	12	2	2	1	2	1	0	0	3	1	3	1	2	3	3	5	2	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22165399G>A	ENST00000374695.3	-	74	10148	c.10069C>T	c.(10069-10071)Cct>Tct	p.P3357S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3357	Ig-like C2-type 19.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGTCCTCAGGGGCTGCACGC	0.682																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10072-10074)Cct>Tct		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						18	19	19					1																	22165399		2202	4298	6500	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22165399G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10069C>T	1.37:g.22165399G>A	ENSP00000363827:p.Pro3357Ser					HSPG2_uc001bfj.3_Missense_Mutation_p.P3357S	p.P3358S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	73	10112	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3357			Ig-like C2-type 19.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10072C>T	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.897|6.897	0.534992|0.534992	0.13188|0.13188	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374676|ENST00000374695	.|T	.|0.28069	.|1.63	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465803|0.465803	0.15921|0.15921	N|N	0.238121|0.238121	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.12831|0.12831	0.26|0.26	0.09310|0.09310	N|N	1|1	.|B;D	.|0.53462	.|0.086;0.96	.|B;P	.|0.57244	.|0.174;0.816	T|T	0.11131|0.11131	-1.0600|-1.0600	7|10	0.87932|0.09084	D|T	0|0.74	.|.	6.0508|6.0508	0.19785|0.19785	0.1016:0.1944:0.704:0.0|0.1016:0.1944:0.704:0.0	.|.	.|1297;3357	.|Q59EG0;P98160	.|.;PGBM_HUMAN	L|S	34|3357	.|ENSP00000363827:P3357S	ENSP00000363808:P34L|ENSP00000363827:P3357S	P|P	-|-	2|1	0|0	HSPG2|HSPG2	22037986|22037986	0.397000|0.397000	0.25270|0.25270	0.179000|0.179000	0.23059|0.23059	0.470000|0.470000	0.32858|0.32858	1.400000|1.400000	0.34577|0.34577	2.232000|2.232000	0.73038|0.73038	0.563000|0.563000	0.77884|0.77884	CCC|CCT		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22165399	G	A	22165399	3	1	229	1	0	0	0	0	1	0	0	0	7430	1232	43	3	3202	3	HSPG2	1	22165399	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	24485	22165399	227085222	4	16040											
ELAVL4	1996	broad.mit.edu	37	chr1	50610767	50610767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaaaccaacctcatcGtcaactatttaccccagaat	16	8	3	14	1	2	1	2	0	0	1	3	1	2	1	4	0	5	1	4	0	7	3	rs116391279		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:50610767G>A	ENST00000371823.4	+	2	372	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371824.1_Missense_Mutation_p.V50I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.V67I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.V50I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.V55I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.V53I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.V55I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAACCTCATCGTCAACTATTT	0.448													G|||	1	0.000199681	0	0	5008	,	,		17918	0		0.001	False		,,,				2504	0					uc001csb.2																			0		p.I49I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(148-150)Gtc>Atc		Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	114	104	107		148,199,148,157,148	6.2	1	1	dbSNP_132	107	5,8595	5.0+/-18.6	0,5,4295	yes	missense,missense,missense,missense,missense	ELAVL4	NM_001144774.1,NM_001144775.1,NM_001144776.1,NM_001144777.1,NM_021952.3	29,29,29,29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign,benign,benign,benign,benign	50/367,67/384,50/367,53/370,50/381	50610767	5,13001	2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50610767G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.148G>A	1.37:g.50610767G>A	ENSP00000360888:p.Val50Ile					ELAVL4_uc001cry.3_Missense_Mutation_p.V53I|ELAVL4_uc001crz.3_Missense_Mutation_p.V50I|ELAVL4_uc001csa.3_Missense_Mutation_p.V67I|ELAVL4_uc001csc.3_Missense_Mutation_p.V50I|ELAVL4_uc009vyu.3_Missense_Mutation_p.V55I|ELAVL4_uc010omz.2_Missense_Mutation_p.V55I	p.V50I	NM_021952	NP_068771	P26378	ELAV4_HUMAN			1	416	+			50			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.148G>A	CCDS553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.04	3.534587	0.64972	0.0	5.81E-4	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053951	0.64402	N	0.000001	T	0.22820	0.0551	L	0.41492	1.28	0.80722	D	1	B;P;P;P;B;P;B	0.48834	0.358;0.734;0.916;0.498;0.442;0.507;0.358	B;B;B;B;B;B;B	0.34824	0.08;0.148;0.19;0.08;0.104;0.104;0.167	T	0.01643	-1.1305	10	0.38643	T	0.18	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	55;55;50;50;67;50;53	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	53;50;67;50;50;55;55	ENSP00000399939:V53I;ENSP00000360892:V50I;ENSP00000349594:V67I;ENSP00000360889:V50I;ENSP00000360888:V50I;ENSP00000360886:V55I;ENSP00000360884:V55I	ENSP00000349594:V67I	V	+	1	0	ELAVL4	50383354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTC		0.448	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		A	50610767	G	A	50610767	3	1	229	1	0	0	0	0	1	0	0	0	5052	1145	40	1	253	1	ELAVL4	1	50610767	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	28445368	50610767	198639854	5	16041											
DMRTB1	63948	broad.mit.edu	37	chr1	53925199	53925199	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttcctggtgcccgtcaagGgacacgcgggcaaatgccgc	7	6	14	14	4	1	0	1	0	0	0	2	1	2	1	3	3	2	2	3	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:53925199G>T	ENST00000371445.3	+	1	128	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	25					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCCCGTCAAGGGACACGCGGG	0.602																																						uc001cvq.1																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(73-75)Gga>Tga		Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.							37	33	34					1																	53925199		2203	4300	6503	SO:0001587	stop_gained	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925199G>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.73G>T	1.37:g.53925199G>T	ENSP00000360500:p.Gly25*						p.G25*	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			0	128	+			25					Q96SD2	Nonsense_Mutation	SNP	ENST00000371445.3	37	c.73G>T	CCDS581.1	.	.	.	.	.	.	.	.	.	.	G	38	6.849541	0.97885	.	.	ENSG00000143006	ENST00000371445	.	.	.	4.83	4.83	0.62350	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.6242	18.1206	0.89569	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000360500:G25X	G	+	1	0	DMRTB1	53697787	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.557000	0.98129	2.502000	0.84385	0.655000	0.94253	GGA		0.602	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			T	53925199	G	T	53925199	4	4	229	1	0	0	0	0	0	1	0	0	4590	1233	43	5	75	5	DMRTB1	1	53925199	Nonsense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3314432	53925199	195325422	6	16042											
ARHGAP29	9411	broad.mit.edu	37	chr1	94650593	94650594	+	Frame_Shift_Ins	INS	-	-	T																															tgactaaattttccaaacacINStttcgatgacaaacaaggag																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:94650593_94650594insT	ENST00000260526.6	-	18	2125_2126	c.1943_1944insA	c.(1942-1944)aagfs	p.K648fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	648					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCCAAACACTTTCGATGACA	0.361																																						uc001dqj.4																			0		p.R647Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1942-1944)aagfs		Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.																																				SO:0001589	frameshift_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650593_94650594insT		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1944dupA	1.37:g.94650596_94650596dupT	ENSP00000260526:p.Lys648fs					ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Frame_Shift_Ins_p.K214fs	p.K648fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	17	2312_2313	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	648					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Ins	INS	ENST00000260526.6	37	c.1943_1944insA	CCDS748.1																																																																																				0.361	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		T	94650594	-	T	94650593	7	5	229	1	0	1	1	0	0	0	0	0	878	564	20	0	1865	0	ARHGAP29	1	94650593	Frame_Shift_Ins	INS	-	TCGA-32-2494-01A-01D-1353-08	40725394	94650593	154600028	7	16043											
CD2	914	broad.mit.edu	37	chr1	117311354	117311354	+	Frame_Shift_Del	DEL	A	A	-																															cccagacctcgagttcagccAaaacctccccatggggcagc																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:117311354delA	ENST00000369478.3	+	5	1113	c.1005delA	c.(1003-1005)ccafs	p.P335fs		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	335	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAGTTCAGCCAAAACCTCCCC	0.517																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.4																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(1003-1005)ccafs		Homo sapiens CD2 molecule (CD2), mRNA.	Alefacept(DB00092)						72	81	78					1																	117311354		2203	4300	6503	SO:0001589	frameshift_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117311354delA	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.1005delA	1.37:g.117311354delA	ENSP00000358490:p.Pro335fs						p.P335fs	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	4	1034	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	335			Pro-rich.		Q96TE5	Frame_Shift_Del	DEL	ENST00000369478.3	37	c.1005delA	CCDS889.1																																																																																				0.517	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		-	117311354	A	-	117311354	7	5	229	1	0	1	0	1	0	0	0	0	2979	117	5	0	1023	0	CD2	1	117311354	Frame_Shift_Del	DEL	A	TCGA-32-2494-01A-01D-1353-08	22660761	117311354	131939267	8	16044											
OR10R2	343406	broad.mit.edu	37	chr1	158450132	158450132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgcattaccccactctTatgagctggcaggtgtgtgg	6	12	11	12	0	2	1	0	1	2	0	2	1	2	1	3	3	3	3	3	3	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:158450132T>C	ENST00000368152.1	+	1	465	c.465T>C	c.(463-465)ctT>ctC	p.L155L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACCCCACTCTTATGAGCTGGC	0.473																																						uc010pik.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(463-465)ctT>ctC		Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.							179	167	171					1																	158450132		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450132T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.465T>C	1.37:g.158450132T>C						AK057554_uc001fso.1_Non-coding_Transcript	p.L155L	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			0	465	+	all_hematologic(112;0.0378)		155					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.465T>C	CCDS30898.1																																																																																				0.473	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		C	158450132	T	C	158450132	2	2	229	1	0	0	0	0	0	0	0	1	10917	1741	61	4		4	OR10R2	1	158450132	Silent	SNP	T	TCGA-32-2494-01A-01D-1353-08	41138778	158450132	90800489	9	16045											
RCSD1	92241	broad.mit.edu	37	chr1	167667016	167667016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcagcccccagacCggccctgcccagctggagac	7	3	12	19	1	0	2	0	0	0	2	0	3	0	2	6	3	4	3	6	3	0	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:167667016C>T	ENST00000367854.3	+	6	1486	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	RCSD1_ENST00000537350.1_Silent_p.T355T	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	385					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCCCCAGACCGGCCCTGCCC	0.642																																						uc001gem.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(1153-1155)acC>acT		Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.							15	20	18					1																	167667016		2187	4278	6465	SO:0001819	synonymous_variant	92241							g.chr1:167667016C>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.1155C>T	1.37:g.167667016C>T						RCSD1_uc010pli.2_Silent_p.T355T	p.T385T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			5	1342	+	all_hematologic(923;0.215)		385					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	ENST00000367854.3	37	c.1155C>T	CCDS1263.1																																																																																				0.642	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		T	167667016	C	T	167667016	2	4	229	1	0	0	0	0	0	0	0	1	13185	639	23	2		2	RCSD1	1	167667016	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	9216884	167667016	81583605	10	16046											
NME7	29922	broad.mit.edu	37	chr1	169138771	169138771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gattgctctgagagttccagGgcgtaaatgccgggcaattt	9	11	13	8	2	1	1	0	1	1	1	2	3	2	1	2	2	2	4	2	2	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:169138771G>A	ENST00000367811.3	-	11	1268	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	NME7_ENST00000472647.1_Missense_Mutation_p.P302S	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	338					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGAGTTCCAGGGCGTAAATGC	0.368																																						uc001gfu.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(1012-1014)Cct>Tct		Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.							161	169	167					1																	169138771		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169138771G>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.1012C>T	1.37:g.169138771G>A	ENSP00000356785:p.Pro338Ser					NME7_uc001gft.3_Missense_Mutation_p.P302S|NME7_uc010plq.2_Non-coding_Transcript	p.P338S	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN			10	1250	-	all_hematologic(923;0.208)		338					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.1012C>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425084	0.83667	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.58060	0.36;0.36	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.88704	2.975	0.51233	D	0.999918	D	0.57571	0.98	P	0.56612	0.802	T	0.75056	-0.3452	9	0.62326	D	0.03	-18.7239	18.1428	0.89646	0.0:0.0:1.0:0.0	.	338	Q9Y5B8	NDK7_HUMAN	S	302;338	ENSP00000433341:P302S;ENSP00000356785:P338S	ENSP00000356785:P338S	P	-	1	0	NME7	167405395	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.193000	0.65120	2.575000	0.86900	0.655000	0.94253	CCT		0.368	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		A	169138771	G	A	169138771	3	1	229	1	0	0	0	0	1	0	0	0	10496	1232	43	3	126	3	NME7	1	169138771	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	1471755	169138771	80111850	11	16047											
LAMC1	3915	broad.mit.edu	37	chr1	183111900	183111900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccatctggctgcttcaAcaccccgtccattgaaaagc	10	10	6	15	1	2	1	1	1	1	0	3	1	3	1	4	1	4	2	4	1	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:183111900A>G	ENST00000258341.4	+	28	5062	c.4805A>G	c.(4804-4806)aAc>aGc	p.N1602S	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1602	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GGCTGCTTCAACACCCCGTCC	0.527																																						uc001gpy.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4804-4806)aAc>aGc		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						105	94	98					1																	183111900		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183111900A>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4805A>G	1.37:g.183111900A>G	ENSP00000258341:p.Asn1602Ser						p.N1602S	NM_002293	NP_002284	P11047	LAMC1_HUMAN			27	5062	+			1602			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4805A>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874111	0.72180	.	.	ENSG00000135862	ENST00000258341	T	0.30981	1.51	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.41710	1.295	0.80722	D	1	P	0.34864	0.473	B	0.24848	0.056	T	0.03139	-1.1068	10	0.33940	T	0.23	.	15.7201	0.77700	1.0:0.0:0.0:0.0	.	1602	P11047	LAMC1_HUMAN	S	1602	ENSP00000258341:N1602S	ENSP00000258341:N1602S	N	+	2	0	LAMC1	181378523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.508000	0.90525	2.110000	0.64415	0.533000	0.62120	AAC		0.527	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		G	183111900	A	G	183111900	3	3	229	1	0	0	0	0	1	0	0	0	8614	43	2	4	4915	4	LAMC1	1	183111900	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	13973129	183111900	66138721	12	16048											
HMCN1	83872	broad.mit.edu	37	chr1	186107024	186107024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaccaggacttgcaataAtccatcagttcagcatggtg	12	9	10	10	0	2	0	2	0	0	0	3	2	3	2	2	3	2	3	2	3	2	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:186107024A>T	ENST00000271588.4	+	89	14073	c.13844A>T	c.(13843-13845)aAt>aTt	p.N4615I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4615I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4615	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTTGCAATAATCCATCAGTT	0.493																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13843-13845)aAt>aTt		Homo sapiens hemicentin 1 (HMCN1), mRNA.							165	150	155					1																	186107024		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186107024A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13844A>T	1.37:g.186107024A>T	ENSP00000271588:p.Asn4615Ile					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.N184I	p.N4615I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			88	14073	+			4615			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13844A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746465	0.49257	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.54279	0.58;0.58	5.65	5.65	0.86999	.	0.129133	0.64402	D	0.000002	T	0.73210	0.3558	M	0.93594	3.435	0.40523	D	0.980852	P	0.46512	0.879	P	0.54210	0.745	T	0.80694	-0.1268	10	0.87932	D	0	.	10.989	0.47539	0.9277:0.0:0.0723:0.0	.	4615	Q96RW7	HMCN1_HUMAN	I	4615	ENSP00000271588:N4615I;ENSP00000356462:N4615I	ENSP00000271588:N4615I	N	+	2	0	HMCN1	184373647	0.998000	0.40836	0.088000	0.20740	0.162000	0.22319	2.916000	0.48813	2.149000	0.67028	0.454000	0.30748	AAT		0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186107024	A	T	186107024	3	4	229	1	0	0	0	0	1	0	0	0	7220	101	4	5	14198	5	HMCN1	1	186107024	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	2995124	186107024	63143597	13	16049											
LGALS8	3964	broad.mit.edu	37	chr1	236711404	236711404	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatttaaagagctcagcagTattgacacgctggaaattaa	16	10	9	6	1	1	3	1	1	0	2	1	4	1	4	0	1	2	4	0	1	5	5	rs576833566		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:236711404T>A	ENST00000366584.4	+	10	1463	c.897T>A	c.(895-897)agT>agA	p.S299R	LGALS8_ENST00000341872.6_Missense_Mutation_p.S299R|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000352231.2_Missense_Mutation_p.S341R|LGALS8_ENST00000525042.1_Missense_Mutation_p.S282R|LGALS8_ENST00000526589.1_Missense_Mutation_p.S341R|LGALS8_ENST00000527974.1_Missense_Mutation_p.S341R|LGALS8_ENST00000526634.1_Missense_Mutation_p.S299R|LGALS8_ENST00000450372.2_Missense_Mutation_p.S341R|LGALS8_ENST00000323938.6_Missense_Mutation_p.S272R|LGALS8_ENST00000416919.2_Missense_Mutation_p.S282R	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	299	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTCAGCAGTATTGACACGC	0.408																																						uc001hxz.2																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(895-897)agT>agA		Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.							119	113	115					1																	236711404		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236711404T>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.897T>A	1.37:g.236711404T>A	ENSP00000355543:p.Ser299Arg					LGALS8_uc001hxw.2_Missense_Mutation_p.S341R|LGALS8_uc001hxy.2_Missense_Mutation_p.S341R|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.S299R|LGALS8_uc001hyc.2_Missense_Mutation_p.S282R	p.S299R	NM_201543	NP_963838	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		10	1278	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	299			Galectin 2.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.897T>A	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477528	0.26511	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42	4.98	-5.45	0.02616	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.803616	0.12158	N	0.494291	T	0.02929	0.0087	N	0.16790	0.44	0.09310	N	1	B;B;B	0.15473	0.013;0.01;0.011	B;B;B	0.21546	0.013;0.035;0.008	T	0.41484	-0.9506	10	0.30078	T	0.28	-2.8663	3.7358	0.08510	0.0952:0.3995:0.2215:0.2837	.	282;299;341	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	R	341;341;341;299;341;299;340;282;272;299;282	ENSP00000431398:S341R;ENSP00000309576:S341R;ENSP00000435460:S341R;ENSP00000342139:S299R;ENSP00000408657:S341R;ENSP00000355543:S299R;ENSP00000410843:S282R;ENSP00000434860:S272R;ENSP00000437040:S299R;ENSP00000431884:S282R	ENSP00000434860:S272R	S	+	3	2	LGALS8	234778027	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	-0.898000	0.04105	-0.733000	0.04850	-0.290000	0.09829	AGT		0.408	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		A	236711404	T	A	236711404	3	1	229	1	0	0	0	0	1	0	0	0	8747	1635	57	5	1061	5	LGALS8	1	236711404	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	50604380	236711404	12539217	14	16050											
LHCGR	3973	broad.mit.edu	37	chr2	48915481	48915481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcctccaagcataatCagaatggcatgtcttaatcg	13	10	7	11	1	2	1	1	0	1	1	5	1	4	1	3	1	2	2	3	1	4	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:48915481C>A	ENST00000294954.7	-	11	1476	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	LHCGR_ENST00000405626.1_Silent_p.L458L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.L423L|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	485					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CAAGCATAATCAGAATGGCAT	0.453																																						uc002rwu.4																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1453-1455)ctG>ctT		Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						133	114	120					2																	48915481		2203	4300	6503	SO:0001819	synonymous_variant	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915481C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1455G>T	2.37:g.48915481C>A						STON1-GTF2A1L_uc021vhf.1_Intron	p.L485L	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1525	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	485					Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.1455G>T	CCDS1842.1																																																																																				0.453	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		A	48915481	C	A	48915481	2	1	229	1	0	0	0	0	0	0	0	1	8762	813	29	5		5	LHCGR	2	48915481	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		48915481	194283892	15	16051											
CKAP2L	150468	broad.mit.edu	37	chr2	113514209	113514209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgctttgtgtttctcCaacaaattgtttattaaccc	9	17	5	10	0	1	0	0	0	1	0	3	0	2	0	3	0	3	3	3	0	4	6			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:113514209C>T	ENST00000302450.6	-	4	817	c.739G>A	c.(739-741)Gga>Aga	p.G247R	CKAP2L_ENST00000541405.1_Missense_Mutation_p.G82R|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	247						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGTTTCTCCAACAAATTGT	0.403																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(739-741)Gga>Aga		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							117	118	118					2																	113514209		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514209C>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.739G>A	2.37:g.113514209C>T	ENSP00000305204:p.Gly247Arg					CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R	p.G247R	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			3	818	-			247					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.739G>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	0.634	-0.815931	0.02776	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.11385	2.78;3.44	4.78	-4.96	0.03038	.	1.018660	0.07827	N	0.960819	T	0.04407	0.0121	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46843	-0.9162	10	0.06891	T	0.86	-4.6447	8.3241	0.32147	0.0:0.2346:0.1253:0.6401	.	247	Q8IYA6	CKP2L_HUMAN	R	82;247	ENSP00000438763:G82R;ENSP00000305204:G247R	ENSP00000305204:G247R	G	-	1	0	CKAP2L	113230680	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.464000	0.06688	-1.061000	0.03185	-1.978000	0.00458	GGA		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		T	113514209	C	T	113514209	3	4	229	1	0	0	0	0	1	0	0	0	3443	603	21	3	1522	3	CKAP2L	2	113514209	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	64598728	113514209	129685164	16	16052											
TRAK2	66008	broad.mit.edu	37	chr2	202250994	202250994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagatccctgttactGgcttggatgttgaaagtttc	9	13	12	7	0	0	2	0	1	0	1	2	4	1	4	1	3	1	5	1	3	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:202250994G>T	ENST00000332624.3	-	14	2338	c.1910C>A	c.(1909-1911)cCa>cAa	p.P637Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	637					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.P637Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCCTGTTACTGGCTTGGATGT	0.418																																						uc002uyb.4																			1	Substitution - Missense(1)	p.P637Q(2)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1909-1911)cCa>cAa		Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.							101	93	96					2																	202250994		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202250994G>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1910C>A	2.37:g.202250994G>T	ENSP00000328875:p.Pro637Gln						p.P637Q	NM_015049	NP_055864	O60296	TRAK2_HUMAN			13	2356	-			637	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1910C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548385	0.27652	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.07216	3.21	4.53	4.53	0.55603	.	0.297182	0.22547	U	0.058654	T	0.12689	0.0308	L	0.54323	1.7	0.80722	D	1	B	0.34103	0.437	B	0.35470	0.203	T	0.05099	-1.0906	10	0.72032	D	0.01	.	17.4619	0.87622	0.0:0.0:1.0:0.0	.	637	O60296	TRAK2_HUMAN	Q	637;543	ENSP00000328875:P637Q	ENSP00000328875:P637Q	P	-	2	0	TRAK2	201959239	1.000000	0.71417	0.911000	0.35937	0.173000	0.22820	3.497000	0.53295	2.362000	0.80069	0.655000	0.94253	CCA		0.418	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		T	202250994	G	T	202250994	3	4	229	1	0	0	0	0	1	0	0	0	16447	1348	47	5	846	5	TRAK2	2	202250994	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	88736785	202250994	40948379	17	16053											
CNTN6	27255	broad.mit.edu	37	chr3	1339583	1339583	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatttaacaggtgtgatgggGgaatatgaaccaaagattga	15	11	12	3	0	0	4	0	3	0	1	0	5	0	5	1	3	2	0	1	3	6	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:1339583G>T	ENST00000446702.2	+	7	1296	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CNTN6_ENST00000539053.1_Silent_p.G151G|CNTN6_ENST00000350110.2_Silent_p.G223G			Q9UQ52	CNTN6_HUMAN	contactin 6	223					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTGTGATGGGGGAATATGAAC	0.358																																						uc003boz.3																			0		p.G223W(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(667-669)ggG>ggT		Homo sapiens contactin 6 (CNTN6), mRNA.							123	129	127					3																	1339583		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1339583G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.669G>T	3.37:g.1339583G>T						CNTN6_uc010hbo.2_Silent_p.G218G|CNTN6_uc011asj.2_Silent_p.G151G|CNTN6_uc003bpa.3_Silent_p.G223G	p.G223G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	6	936	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	223					Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.669G>T	CCDS2557.1																																																																																				0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		T	1339583	G	T	1339583	2	4	229	1	0	0	0	0	0	0	0	1	3645	1219	43	5		5	CNTN6	3	1339583	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		1339583	196682847	18	16054											
ITPR1	3708	broad.mit.edu	37	chr3	4856788	4856788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctcttgttcttcttcatgGtcatcatcattgttcttaac	7	19	4	11	0	8	0	4	0	4	0	8	0	8	0	1	1	1	2	1	1	1	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:4856788G>A	ENST00000443694.2	+	56	7708	c.7708G>A	c.(7708-7710)Gtc>Atc	p.V2570I	AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2570I|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2537I|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2522I|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.V548I|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2537I|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2570I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2585					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTTCTTCATGGTCATCATCAT	0.448																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7708-7710)Gtc>Atc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							217	212	214					3																	4856788		2041	4227	6268	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4856788G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7708G>A	3.37:g.4856788G>A	ENSP00000401671:p.Val2570Ile					ITPR1_uc021wsi.1_Missense_Mutation_p.V2537I|ITPR1_uc021wsj.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.2_Missense_Mutation_p.V548I|ITPR1_uc010hcc.2_Missense_Mutation_p.V305I|ITPR1_uc011asv.2_Missense_Mutation_p.V261I	p.V2570I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	57	8058	+			2585					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7708G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253418	0.80135	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	4.83	4.83	0.62350	Ion transport (1);	0.073347	0.56097	D	0.000036	D	0.98343	0.9450	L	0.56340	1.77	0.58432	D	0.999998	P;P;P	0.51351	0.944;0.855;0.854	D;P;P	0.66716	0.946;0.507;0.832	D	0.98274	1.0505	10	0.25106	T	0.35	.	17.9405	0.89025	0.0:0.0:1.0:0.0	.	548;2585;2537	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2585;2570;2570;2537;1031;2537;2522;548;2570	ENSP00000306253:V2570I;ENSP00000346595:V2570I;ENSP00000405934:V2537I;ENSP00000349597:V2537I;ENSP00000397885:V2522I;ENSP00000440564:V548I;ENSP00000401671:V2570I	ENSP00000306253:V2570I	V	+	1	0	ITPR1	4831788	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.787000	0.99055	2.218000	0.71995	0.467000	0.42956	GTC		0.448	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4856788	G	A	4856788	3	1	229	1	0	0	0	0	1	0	0	0	7920	1261	44	3	7979	3	ITPR1	3	4856788	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3517205	4856788	193165642	19	16055											
ATP2B2	491	broad.mit.edu	37	chr3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccccagggagatgatggcgGcaatctccaggatgatgagc	10	6	15	10	1	1	4	0	3	1	1	2	6	1	5	3	4	1	1	3	4	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:10452358G>A	ENST00000352432.4	-	2	410	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(340-342)gCc>gTc		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							177	185	182					3																	10452358		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452358G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.341C>T	3.37:g.10452358G>A	ENSP00000324172:p.Ala114Val					ATP2B2_uc003bvv.3_Missense_Mutation_p.A114V|ATP2B2_uc003bvw.3_Missense_Mutation_p.A114V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A114V|ATP2B2_uc010hdo.3_5'UTR	p.A114V	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			2	780	-			114					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.341C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774816	0.96922	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94931	-1.87;-1.87;-1.87;-1.87;-1.87;-3.56	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.999;0.986;0.997	D;P;D	0.81914	0.995;0.897;0.947	D	0.98630	1.0671	10	0.87932	D	0	-37.8211	19.7543	0.96284	0.0:0.0:1.0:0.0	.	114;126;114	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	114;114;114;114;114;80;1;114	ENSP00000324172:A114V;ENSP00000373311:A114V;ENSP00000380267:A114V;ENSP00000353414:A114V;ENSP00000344677:A114V;ENSP00000414854:A1V	ENSP00000342954:A114V	A	-	2	0	ATP2B2	10427358	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCC		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10452358	G	A	10452358	3	1	229	1	0	0	0	0	1	0	0	0	1140	1203	42	3	3474	3	ATP2B2	3	10452358	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	5595570	10452358	187570072	20	16056											
C3orf20	84077	broad.mit.edu	37	chr3	14799018	14799018	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgcccctggtctctgAcgtggagctggagcgcttcc	5	8	15	13	3	1	1	0	1	1	0	3	4	2	3	3	4	2	2	3	4	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:14799018A>C	ENST00000253697.3	+	13	2533	c.2081A>C	c.(2080-2082)gAc>gCc	p.D694A	C3orf20_ENST00000435614.1_Missense_Mutation_p.D572A|C3orf20_ENST00000412910.1_Missense_Mutation_p.D572A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	694						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGGTCTCTGACGTGGAGCTG	0.632																																						uc003byy.3																			0		p.D694D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2080-2082)gAc>gCc		Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.							64	61	62					3																	14799018		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14799018A>C	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2081A>C	3.37:g.14799018A>C	ENSP00000253697:p.Asp694Ala					C3orf20_uc003byz.3_Missense_Mutation_p.D572A|C3orf20_uc003bza.3_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.2_Missense_Mutation_p.D21A	p.D694A	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN			12	2533	+			694					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2081A>C	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221984	0.39300	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.35789	1.59;1.29;1.29	4.95	4.95	0.65309	.	0.000000	0.52532	D	0.000065	T	0.57710	0.2072	M	0.76574	2.34	0.26774	N	0.969748	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54111	-0.8342	10	0.54805	T	0.06	-29.2235	11.0226	0.47726	1.0:0.0:0.0:0.0	.	572;694	Q8ND61-2;Q8ND61	.;CC020_HUMAN	A	694;572;572	ENSP00000253697:D694A;ENSP00000402933:D572A;ENSP00000396081:D572A	ENSP00000253697:D694A	D	+	2	0	C3orf20	14774022	0.970000	0.33590	0.629000	0.29254	0.067000	0.16453	4.675000	0.61619	1.864000	0.54056	0.247000	0.18012	GAC		0.632	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		C	14799018	A	C	14799018	3	2	229	1	0	0	0	0	1	0	0	0	2213	275	10	5	2123	5	C3orf20	3	14799018	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	4346660	14799018	183223412	21	16057											
MYRIP	25924	broad.mit.edu	37	chr3	40231528	40231528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgagcaagctgtgtcccagGtcccgggccctgcccaggaa	7	7	13	14	1	0	1	0	1	0	0	2	2	2	2	4	3	3	2	4	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:40231528G>A	ENST00000302541.6	+	10	1581	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	MYRIP_ENST00000396217.3_Silent_p.R324R|MYRIP_ENST00000444716.1_Silent_p.R413R|MYRIP_ENST00000539167.1_Silent_p.R226R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.R413R	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	413	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGTGTCCCAGGTCCCGGGCCC	0.637																																						uc003cka.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1237-1239)agG>agA		Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.							89	85	87					3																	40231528		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231528G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1239G>A	3.37:g.40231528G>A						MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R413R|MYRIP_uc010hhw.3_Silent_p.R324R|MYRIP_uc011ayz.2_Silent_p.R226R|FLJ33065_uc003ckb.3_Intron	p.R413R	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	9	1374	+			413			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1239G>A	CCDS2689.1																																																																																				0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		A	40231528	G	A	40231528	2	1	229	1	0	0	0	0	0	0	0	1	10100	1252	44	3		3	MYRIP	3	40231528	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	25432510	40231528	157790902	22	16058											
PIK3CB	5291	broad.mit.edu	37	chr3	138374244	138374244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgttaagatctgtagTctttccgaactgtgtgggcc	7	14	11	9	2	2	2	0	1	2	1	4	3	3	2	2	1	1	2	2	1	3	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374244T>G	ENST00000477593.1	-	23	3273	c.3200A>C	c.(3199-3201)gAc>gCc	p.D1067A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067A|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTGTAGTCTTTCCGAAC	0.408																																						uc011bmq.2																			1	Substitution - Missense(1)	p.D1067V(2)	skin(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3199-3201)gAc>gCc		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							139	129	132					3																	138374244		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374244T>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3200A>C	3.37:g.138374244T>G	ENSP00000418143:p.Asp1067Ala					PIK3CB_uc011bmn.2_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_Non-coding_Transcript	p.D1067A	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	3200	-			1067			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3200A>C	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.59|19.59	3.855396|3.855396	0.71719|0.71719	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.71341|.	-0.56;-0.13;-0.56|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75133|0.75133	0.3808|0.3808	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.72982|.	0.979;0.971;0.971|.	T|T	0.75645|0.75645	-0.3246|-0.3246	10|5	0.54805|.	T|.	0.06|.	-22.5439|-22.5439	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1067;654;518|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	A|P	1067;518;1067|699	ENSP00000418143:D1067A;ENSP00000438259:D518A;ENSP00000289153:D1067A|.	ENSP00000289153:D1067A|.	D|T	-|-	2|1	0|0	PIK3CB|PIK3CB	139856934|139856934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			G	138374244	T	G	138374244	3	3	229	1	0	0	0	0	1	0	0	0	11914	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	98142716	138374244	59648186	23	16059											
PIK3CB	5291	broad.mit.edu	37	chr3	138374281	138374281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccatccagttcactttagTagtccagctttccctgagcg	7	12	9	13	1	1	1	1	1	0	0	4	1	4	1	4	1	2	3	4	1	2	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374281T>C	ENST00000477593.1	-	23	3236	c.3163A>G	c.(3163-3165)Act>Gct	p.T1055A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T1055A|PIK3CB_ENST00000544716.1_Missense_Mutation_p.T506A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1055	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TTCACTTTAGTAGTCCAGCTT	0.413																																						uc011bmq.2																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3163-3165)Act>Gct		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							135	125	128					3																	138374281		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374281T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3163A>G	3.37:g.138374281T>C	ENSP00000418143:p.Thr1055Ala					PIK3CB_uc011bmn.2_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.2_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.2_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_Non-coding_Transcript	p.T1055A	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	3163	-			1055			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3163A>G	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252202	0.80135	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.80653	-1.4;-1.4;-1.4	5.55	5.55	0.83447	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	M	0.82716	2.605	0.80722	D	1	D;D;P	0.89917	1.0;0.995;0.509	D;P;P	0.91635	0.999;0.831;0.785	D	0.91386	0.5131	10	0.66056	D	0.02	-24.6295	15.8615	0.79026	0.0:0.0:0.0:1.0	.	1055;642;506	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	A	1055;506;1055	ENSP00000418143:T1055A;ENSP00000438259:T506A;ENSP00000289153:T1055A	ENSP00000289153:T1055A	T	-	1	0	PIK3CB	139856971	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.868000	0.87116	2.333000	0.79357	0.533000	0.62120	ACT		0.413	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			C	138374281	T	C	138374281	3	2	229	1	0	0	0	0	1	0	0	0	11914	1638	57	4	51	4	PIK3CB	3	138374281	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	37	138374281	59648149	24	16060											
KCNAB1	7881	broad.mit.edu	37	chr3	155838668	155838668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgtctgcaccacaggcatgCcgcacaggtaagctgcccct	8	6	10	17	2	1	0	0	0	1	0	1	0	1	0	5	2	4	5	5	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:155838668C>T	ENST00000490337.1	+	1	332	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	KCNAB1_ENST00000389636.5_Missense_Mutation_p.P90S	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	90					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACAGGCATGCCGCACAGGTA	0.592																																						uc003far.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(268-270)Ccg>Tcg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.							43	38	40					3																	155838668		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155838668C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.268C>T	3.37:g.155838668C>T	ENSP00000419952:p.Pro90Ser					KCNAB1_uc011bon.1_Missense_Mutation_p.P90S	p.P90S	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		0	332	+			90					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.268C>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287687	0.40494	.	.	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.41400	1.0;1.0	5.47	5.47	0.80525	NADP-dependent oxidoreductase domain (2);	.	.	.	.	T	0.28001	0.0690	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.01;0.005	B;B	0.14023	0.01;0.01	T	0.05273	-1.0895	9	0.31617	T	0.26	-16.2783	19.3341	0.94307	0.0:1.0:0.0:0.0	.	90;90	B7Z8E5;Q14722	.;KCAB1_HUMAN	S	90	ENSP00000419952:P90S;ENSP00000374287:P90S	ENSP00000374287:P90S	P	+	1	0	KCNAB1	157321362	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	5.134000	0.64770	2.558000	0.86282	0.557000	0.71058	CCG		0.592	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		T	155838668	C	T	155838668	3	4	229	1	0	0	0	0	1	0	0	0	8009	739	26	3	270	3	KCNAB1	3	155838668	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	17464387	155838668	42183762	25	16061											
VPS8	23355	broad.mit.edu	37	chr3	184543975	184543975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgacaaggagtttgatattCctcaagttgatactcctcca	12	13	7	9	0	1	3	1	3	0	0	4	4	4	4	3	1	1	2	3	1	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:184543975C>G	ENST00000437079.3	+	3	349	c.178C>G	c.(178-180)Cct>Gct	p.P60A	VPS8_ENST00000436792.2_Missense_Mutation_p.P60A|VPS8_ENST00000424463.2_Missense_Mutation_p.P60A|VPS8_ENST00000446204.2_Missense_Mutation_p.P60A|VPS8_ENST00000287546.4_Missense_Mutation_p.P60A	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	60							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTTGATATTCCTCAAGTTGA	0.318																																						uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(178-180)Cct>Gct		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.							100	95	97					3																	184543975		1842	4098	5940	SO:0001583	missense	23355						zinc ion binding	g.chr3:184543975C>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.178C>G	3.37:g.184543975C>G	ENSP00000397879:p.Pro60Ala					VPS8_uc003fpb.1_Missense_Mutation_p.P60A|VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A	p.P60A	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		1	266	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		60					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.178C>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902554	0.92035	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000453056;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.14559	-1.0468	10	0.62326	D	0.03	-20.164	19.1739	0.93594	0.0:1.0:0.0:0.0	.	60;60;60	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	A	60	ENSP00000287546:P60A;ENSP00000397879:P60A;ENSP00000404704:P60A;ENSP00000405483:P60A;ENSP00000415161:P60A;ENSP00000389480:P60A;ENSP00000409957:P60A;ENSP00000416150:P60A	ENSP00000287546:P60A	P	+	1	0	VPS8	186026669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.823000	0.75282	2.827000	0.97445	0.650000	0.86243	CCT		0.318	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		G	184543975	C	G	184543975	3	3	229	1	0	0	0	0	1	0	0	0	17215	855	30	5	184	5	VPS8	3	184543975	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	28705307	184543975	13478455	26	16062											
ACAP2	23527	broad.mit.edu	37	chr3	195012473	195012473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcatggtgcaatggtccCcgcccttggacatctctttg	5	12	12	12	1	1	0	0	0	1	0	3	1	2	1	3	4	1	2	3	4	1	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:195012473C>T	ENST00000326793.6	-	20	2255	c.2025G>A	c.(2023-2025)cgG>cgA	p.R675R		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	675					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCAATGGTCCCCGCCCTTGGA	0.413																																						uc003fun.4																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2023-2025)cgG>cgA		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.							112	107	109					3																	195012473		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195012473C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2025G>A	3.37:g.195012473C>T							p.R675R	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			19	2266	-			675					A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.2025G>A	CCDS33924.1																																																																																				0.413	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		T	195012473	C	T	195012473	2	4	229	1	0	0	0	0	0	0	0	1	119	610	22	3		3	ACAP2	3	195012473	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	10468498	195012473	3009957	27	16063											
AFP	174	broad.mit.edu	37	chr4	74316398	74316398	+	Frame_Shift_Del	DEL	A	A	-																															gagctgatggccatcaccagAaaaatggcagccacagcagc																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:74316398delA	ENST00000395792.2	+	11	1456	c.1356delA	c.(1354-1356)agafs	p.R452fs	AFP_ENST00000226359.2_Frame_Shift_Del_p.R452fs	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	452	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATCACCAGAAAAATGGCAG	0.517									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1354-1356)agafs		Homo sapiens alpha-fetoprotein (AFP), mRNA.							92	84	86					4																	74316398		2203	4300	6503	SO:0001589	frameshift_variant	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74316398delA	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1356delA	4.37:g.74316398delA	ENSP00000379138:p.Arg452fs					AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs	p.R452fs	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1403	+	Breast(15;0.00102)		452			Albumin 3.		B2RBU3	Frame_Shift_Del	DEL	ENST00000395792.2	37	c.1356delA	CCDS3556.1																																																																																				0.517	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			-	74316398	A	-	74316398	7	5	229	1	0	1	0	1	0	0	0	0	363	243	9	0	1398	0	AFP	4	74316398	Frame_Shift_Del	DEL	A	TCGA-32-2494-01A-01D-1353-08		74316398	116837878	28	16064											
AFF1	4299	broad.mit.edu	37	chr4	88048823	88048823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaccttcacatgagggagGcaaaaaagatgaagcagaaa	19	4	11	7	0	1	5	1	2	0	3	1	6	1	6	1	2	1	2	1	2	5	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:88048823G>A	ENST00000307808.6	+	15	3331	c.2911G>A	c.(2911-2913)Gca>Aca	p.A971T	AFF1_ENST00000395146.4_Missense_Mutation_p.A978T|AFF1_ENST00000544085.1_Missense_Mutation_p.A609T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	971					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CATGAGGGAGGCAAAAAAGAT	0.378																																						uc011ccz.2																			0				breast(1)|large_intestine(2)	3						c.(2932-2934)Gca>Aca		Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.							138	126	130					4																	88048823		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88048823G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2911G>A	4.37:g.88048823G>A	ENSP00000305689:p.Ala971Thr					AFF1_uc003hqj.4_Missense_Mutation_p.A971T|AFF1_uc003hqk.4_Missense_Mutation_p.A971T|AFF1_uc011cda.2_Missense_Mutation_p.A609T	p.A978T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	15	3207	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	971					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2932G>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096095	0.76870	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.76839	-1.05;-1.05;-1.05	4.94	4.94	0.65067	.	0.093569	0.46758	N	0.000263	D	0.89410	0.6707	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91307	0.5071	10	0.87932	D	0	-14.9063	16.33	0.83006	0.0:0.0:1.0:0.0	.	978;971;971	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	T	978;971;609	ENSP00000378578:A978T;ENSP00000305689:A971T;ENSP00000440843:A609T	ENSP00000305689:A971T	A	+	1	0	AFF1	88267847	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.764000	0.68826	2.427000	0.82271	0.655000	0.94253	GCA		0.378	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		A	88048823	G	A	88048823	3	1	229	1	0	0	0	0	1	0	0	0	356	1203	42	3	3011	3	AFF1	4	88048823	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	13732425	88048823	103105453	29	16065											
NR3C2	4306	broad.mit.edu	37	chr4	149181209	149181209	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaagcctcatccccAcacaccaaacatatttttga	13	10	3	15	0	1	2	1	2	0	0	3	2	3	2	5	0	2	0	5	0	3	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:149181209A>C	ENST00000358102.3	-	3	2180	c.1818T>G	c.(1816-1818)tgT>tgG	p.C606W	NR3C2_ENST00000355292.3_Missense_Mutation_p.C606W|NR3C2_ENST00000512865.1_Missense_Mutation_p.C606W|NR3C2_ENST00000344721.4_Missense_Mutation_p.C606W|NR3C2_ENST00000511528.1_Missense_Mutation_p.C606W	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	606					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCTCATCCCCACACACCAAAC	0.413																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1816-1818)tgT>tgG		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						138	130	133					4																	149181209		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181209A>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1818T>G	4.37:g.149181209A>C	ENSP00000350815:p.Cys606Trp					NR3C2_uc003ilk.4_Missense_Mutation_p.C606W|NR3C2_uc010iph.3_Non-coding_Transcript	p.C606W	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	2181	-	all_hematologic(180;0.151)		606					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1818T>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447507	0.63178	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.99829	-7.0;-7.0;-7.0;-7.0;-7.0;-7.0	5.98	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96778	0.9573	9	.	.	.	.	10.1082	0.42546	0.8651:0.0:0.1349:0.0	.	606;606	B0ZBF5;B0ZBF6	.;.	W	606	ENSP00000341390:C606W;ENSP00000347441:C606W;ENSP00000350815:C606W;ENSP00000423510:C606W;ENSP00000343907:C606W;ENSP00000421481:C606W	.	C	-	3	2	NR3C2	149400659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.569000	0.36428	1.073000	0.40885	0.482000	0.46254	TGT		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			C	149181209	A	C	149181209	3	2	229	1	0	0	0	0	1	0	0	0	10631	157	6	5	1164	5	NR3C2	4	149181209	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	61132386	149181209	41973067	30	16066											
POC5	134359	broad.mit.edu	37	chr5	74998543	74998543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtatgactagaatttgTtgctggtgaggaagagtcag	11	13	13	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	3	0	2	4	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr5:74998543T>C	ENST00000428202.2	-	5	589	c.400A>G	c.(400-402)Aca>Gca	p.T134A	POC5_ENST00000510798.1_Missense_Mutation_p.T17A|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000514838.2_Missense_Mutation_p.T106A|POC5_ENST00000446329.2_Missense_Mutation_p.T109A|POC5_ENST00000380475.2_Missense_Mutation_p.T17A	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	134					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTAGAATTTGTTGCTGGTGAG	0.403																																						uc003keh.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(400-402)Aca>Gca		Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.							95	93	93					5																	74998543		1926	4143	6069	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74998543T>C	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.400A>G	5.37:g.74998543T>C	ENSP00000410216:p.Thr134Ala					POC5_uc010izu.3_Missense_Mutation_p.T17A|POC5_uc003keg.4_Missense_Mutation_p.T109A	p.T134A	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			4	597	-			134					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.400A>G	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126869	0.37533	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835;ENST00000502826;ENST00000506164	T;T;T;T;T	0.44482	1.97;1.56;0.92;0.92;1.97	5.86	-2.61	0.06171	.	0.342750	0.35407	N	0.003223	T	0.26666	0.0652	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20887	0.049;0.002;0.004	B;B;B	0.20184	0.028;0.003;0.003	T	0.33803	-0.9854	10	0.66056	D	0.02	-12.1412	13.4555	0.61195	0.7158:0.0:0.0:0.2842	.	17;134;109	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	A	134;106;17;17;109;17;17;17	ENSP00000410216:T134A;ENSP00000420971:T106A;ENSP00000369842:T17A;ENSP00000426796:T17A;ENSP00000399481:T109A	ENSP00000369842:T17A	T	-	1	0	POC5	75034299	0.538000	0.26394	0.003000	0.11579	0.940000	0.58332	1.020000	0.30027	-0.158000	0.11040	0.460000	0.39030	ACA		0.403	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		C	74998543	T	C	74998543	3	2	229	1	0	0	0	0	1	0	0	0	12177	1725	60	4	1359	4	POC5	5	74998543	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08		74998543	105916717	31	16067											
HIVEP1	3096	broad.mit.edu	37	chr6	12121493	12121493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttagtattcattcagacGtagaagacagtggggagagc	13	9	12	7	1	2	4	2	0	0	4	2	5	2	4	0	2	1	2	0	2	4	5	rs199639832		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:12121493G>A	ENST00000379388.2	+	4	1797	c.1465G>A	c.(1465-1467)Gta>Ata	p.V489I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	489					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V489I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCATTCAGACGTAGAAGACAG	0.527																																						uc003nac.3																			1	Substitution - Missense(1)	p.V489I(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(1465-1467)Gta>Ata		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							57	60	59					6																	12121493		2079	4228	6307	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121493G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1465G>A	6.37:g.12121493G>A	ENSP00000368698:p.Val489Ile					HIVEP1_uc011diq.2_Non-coding_Transcript	p.V489I	NM_002114	NP_002105	P15822	ZEP1_HUMAN			3	1644	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	489					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1465G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	3.308	-0.141389	0.06669	.	.	ENSG00000095951	ENST00000379388	T	0.10005	2.92	5.33	1.43	0.22495	.	0.895468	0.09066	N	0.853580	T	0.02304	0.0071	L	0.27053	0.805	0.58432	D	0.999999	B	0.14805	0.011	B	0.12837	0.008	T	0.41034	-0.9531	9	.	.	.	-3.4874	6.8	0.23746	0.2177:0.1271:0.6552:0.0	.	489	P15822	ZEP1_HUMAN	I	489	ENSP00000368698:V489I	.	V	+	1	0	HIVEP1	12229479	0.771000	0.28555	0.001000	0.08648	0.661000	0.39034	3.711000	0.54868	-0.023000	0.13963	-0.137000	0.14449	GTA		0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12121493	G	A	12121493	3	1	229	1	0	0	0	0	1	0	0	0	7186	1145	40	1	1475	1	HIVEP1	6	12121493	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		12121493	158993574	32	16068											
SNX14	57231	broad.mit.edu	37	chr6	86258062	86258062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaggaacacagagccaGacagaatctctcttataagt	17	7	9	8	0	2	3	0	0	2	3	3	5	2	5	1	2	2	0	1	2	6	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:86258062G>C	ENST00000314673.3	-	9	1000	c.824C>G	c.(823-825)tCt>tGt	p.S275C	SNX14_ENST00000505648.1_Missense_Mutation_p.S223C|SNX14_ENST00000346348.3_Missense_Mutation_p.S231C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.S275C|SNX14_ENST00000513865.1_Missense_Mutation_p.S275C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	275	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACAGAGCCAGACAGAATCTC	0.279																																						uc003pkr.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(823-825)tCt>tGt		Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.							52	58	56					6																	86258062		2203	4297	6500	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86258062G>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.824C>G	6.37:g.86258062G>C	ENSP00000313121:p.Ser275Cys					SNX14_uc003pkp.3_Missense_Mutation_p.S138C|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.S223C|SNX14_uc003pks.3_Missense_Mutation_p.S231C|SNX14_uc003pkt.3_Missense_Mutation_p.S275C	p.S275C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	8	1017	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	275			PXA.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.824C>G	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195755	0.78902	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.35048	1.75;1.73;1.33;1.74;1.73;1.76	4.69	4.69	0.59074	Phox-associated domain (2);	0.167181	0.53938	D	0.000045	T	0.44477	0.1295	L	0.53249	1.67	0.53688	D	0.999973	P;D;P;P	0.54397	0.941;0.966;0.953;0.941	P;P;P;P	0.59546	0.698;0.698;0.859;0.779	T	0.42616	-0.9441	10	0.56958	D	0.05	-14.8478	18.0093	0.89218	0.0:0.0:1.0:0.0	.	275;231;275;223	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	231;275;275;223;275;202	ENSP00000257769:S231C;ENSP00000313121:S275C;ENSP00000420938:S275C;ENSP00000427380:S223C;ENSP00000358641:S275C;ENSP00000425630:S202C	ENSP00000313121:S275C	S	-	2	0	SNX14	86314781	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.529000	0.81952	2.321000	0.78463	0.313000	0.20887	TCT		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		C	86258062	G	C	86258062	3	2	229	1	0	0	0	0	1	0	0	0	14885	942	33	5	2100	5	SNX14	6	86258062	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	74136569	86258062	84857005	33	16069											
SIM1	6492	broad.mit.edu	37	chr6	100901720	100901720	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccacgcctcgccgagcCctgtggagacacagaagcat	9	4	12	16	3	0	2	0	0	0	2	1	4	0	2	5	2	2	1	5	2	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:100901720C>T	ENST00000369208.3	-	3	958	c.176G>A	c.(175-177)gGg>gAg	p.G59E	SIM1_ENST00000262901.4_Splice_Site_p.G59E			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	59					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCGCCGAGCCCTGTGGAGAC	0.627																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.e2-1		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							41	37	38					6																	100901720		2203	4300	6503	SO:0001630	splice_region_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100901720C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.176-1G>A	6.37:g.100901720C>T						SIM1_uc021zdg.1_Splice_Site_p.G59_splice|SIM1_uc010kcu.3_Splice_Site_p.G59_splice	p.G59_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	643	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	59					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.176_splice	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341417	0.95783	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04275	3.66;3.66	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (1);	0.290165	0.37761	N	0.001960	T	0.16854	0.0405	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00589	-1.1656	10	0.66056	D	0.02	.	19.5251	0.95201	0.0:1.0:0.0:0.0	.	59	P81133	SIM1_HUMAN	E	59	ENSP00000358210:G59E;ENSP00000262901:G59E	ENSP00000262901:G59E	G	-	2	0	SIM1	101008441	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.484000	0.81180	2.616000	0.88540	0.563000	0.77884	GGG		0.627	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	Missense_Mutation	T	100901720	C	T	100901720	5	4	229	1	0	0	0	0	0	0	1	0	14323	637	22	3	2164	3	SIM1	6	100901720	Splice_Site	SNP	C	TCGA-32-2494-01A-01D-1353-08	14643658	100901720	70213347	34	16070											
BVES	11149	broad.mit.edu	37	chr6	105549004	105549004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtatttggagatgccGgttcaaaaacgtcatcatca	13	12	8	8	2	5	1	5	0	0	1	5	2	5	1	1	2	2	2	1	2	4	3	rs138992583		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:105549004G>A	ENST00000314641.5	-	8	1259	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BVES_ENST00000446408.2_Missense_Mutation_p.P348L|BVES_ENST00000336775.5_Missense_Mutation_p.P348L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	348					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGATGCCGGTTCAAAAAC	0.453																																						uc003pqw.3																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1042-1044)cCg>cTg		Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.							225	193	204					6																	105549004		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105549004G>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1043C>T	6.37:g.105549004G>A	ENSP00000313172:p.Pro348Leu					BVES_uc003pqx.3_Missense_Mutation_p.P348L|BVES_uc003pqy.3_Missense_Mutation_p.P348L	p.P348L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			7	1200	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	348					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.1043C>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802762	0.16397	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17854	2.25;2.25;2.25	4.93	4.06	0.47325	.	0.336084	0.27393	N	0.019567	T	0.04543	0.0124	N	0.24115	0.695	0.40199	D	0.977494	B	0.24368	0.102	B	0.15052	0.012	T	0.16600	-1.0397	10	0.45353	T	0.12	-9.8887	9.758	0.40515	0.0972:0.0:0.9028:0.0	.	348	Q8NE79	POPD1_HUMAN	L	348	ENSP00000313172:P348L;ENSP00000337259:P348L;ENSP00000397310:P348L	ENSP00000313172:P348L	P	-	2	0	BVES	105655697	0.941000	0.31946	0.826000	0.32828	0.017000	0.09413	1.448000	0.35112	1.198000	0.43158	-0.143000	0.13931	CCG		0.453	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		A	105549004	G	A	105549004	3	1	229	1	0	0	0	0	1	0	0	0	1575	1116	39	2	43	2	BVES	6	105549004	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	4647284	105549004	65566063	35	16071											
TIAM2	26230	broad.mit.edu	37	chr6	155498003	155498003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacggtgttccccgagaCaatgcatgggaaatccagac	12	7	12	10	2	0	3	0	0	0	3	2	5	2	4	3	2	1	3	3	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:155498003C>A	ENST00000461783.3	+	12	3688	c.2415C>A	c.(2413-2415)gaC>gaA	p.D805E	TIAM2_ENST00000529824.2_Missense_Mutation_p.D805E|TIAM2_ENST00000456144.1_Missense_Mutation_p.D805E|TIAM2_ENST00000456877.2_Missense_Mutation_p.D117E|TIAM2_ENST00000528391.2_Missense_Mutation_p.D141E|TIAM2_ENST00000360366.4_Missense_Mutation_p.D829E|TIAM2_ENST00000318981.5_Missense_Mutation_p.D805E|TIAM2_ENST00000367174.2_Missense_Mutation_p.D181E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	805					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTCCCCGAGACAATGCATGGG	0.408																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2413-2415)gaC>gaA		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							182	158	166					6																	155498003		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155498003C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2415C>A	6.37:g.155498003C>A	ENSP00000437188:p.Asp805Glu					TIAM2_uc003qqe.3_Missense_Mutation_p.D805E|TIAM2_uc010kjj.3_Missense_Mutation_p.D338E|TIAM2_uc003qqf.3_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.3_Missense_Mutation_p.D117E	p.D805E	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	11	3688	+		Ovarian(120;0.196)	805					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2415C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485091	0.26598	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.05199	3.66;3.52;3.63;3.66;3.5;3.69;3.63;3.48;3.49	5.29	4.3	0.51218	.	0.391954	0.29225	N	0.012780	T	0.01189	0.0039	N	0.14661	0.345	0.32147	N	0.584746	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.50074	-0.8870	10	0.15066	T	0.55	.	7.4077	0.27000	0.2937:0.5525:0.1538:0.0	.	141;805;829;805	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	E	805;1051;805;805;805;181;829;805;117;141	ENSP00000437188:D805E;ENSP00000434901:D805E;ENSP00000407746:D805E;ENSP00000327315:D805E;ENSP00000356142:D181E;ENSP00000353528:D829E;ENSP00000433348:D805E;ENSP00000407183:D117E;ENSP00000435335:D141E	ENSP00000327315:D805E	D	+	3	2	TIAM2	155539695	0.979000	0.34478	0.849000	0.33467	0.132000	0.20833	2.262000	0.43285	2.639000	0.89480	0.655000	0.94253	GAC		0.408	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155498003	C	A	155498003	3	1	229	1	0	0	0	0	1	0	0	0	15888	477	17	5	2441	5	TIAM2	6	155498003	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	49948999	155498003	15617064	36	16072											
FNDC1	84624	broad.mit.edu	37	chr6	159672498	159672498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcaccgtggtggccGtggaaggttgccactcattt	8	10	12	11	2	2	0	2	0	0	0	2	1	2	1	3	4	2	2	3	4	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:159672498G>A	ENST00000297267.9	+	17	5199	c.4999G>A	c.(4999-5001)Gtg>Atg	p.V1667M	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1604M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1667	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGTGGTGGCCGTGGAAGGTTG	0.537																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(4999-5001)Gtg>Atg		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.							64	61	62					6																	159672498		2041	4195	6236	SO:0001583	missense	84624					extracellular region		g.chr6:159672498G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4999G>A	6.37:g.159672498G>A	ENSP00000297267:p.Val1667Met						p.V1667M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	16	5199	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1667			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.4999G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.92|13.92	2.380257|2.380257	0.42207|0.42207	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.60171	.|0.21;0.21	5.51|5.51	-1.09|-1.09	0.09904|0.09904	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.313269	.|0.33457	.|N	.|0.004898	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.41124|0.41124	1.26|1.26	0.26329|0.26329	N|N	0.977559|0.977559	.|P	.|0.43578	.|0.811	.|P	.|0.45071	.|0.468	T|T	0.43032|0.43032	-0.9416|-0.9416	5|9	.|.	.|.	.|.	-2.0997|-2.0997	11.5902|11.5902	0.50941|0.50941	0.155:0.0:0.845:0.0|0.155:0.0:0.845:0.0	.|.	.|1667	.|Q4ZHG4	.|FNDC1_HUMAN	H|M	1562|1667;1604	.|ENSP00000297267:V1667M;ENSP00000342460:V1604M	.|.	R|V	+|+	2|1	0|0	FNDC1|FNDC1	159592488|159592488	0.222000|0.222000	0.23652|0.23652	0.918000|0.918000	0.36340|0.36340	0.987000|0.987000	0.75469|0.75469	0.762000|0.762000	0.26503|0.26503	-0.560000|-0.560000	0.06102|0.06102	0.585000|0.585000	0.79938|0.79938	CGT|GTG		0.537	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159672498	G	A	159672498	3	1	229	1	0	0	0	0	1	0	0	0	5968	1145	40	1	5065	1	FNDC1	6	159672498	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	4174495	159672498	11442569	37	16073											
MAD1L1	8379	broad.mit.edu	37	chr7	2255875	2255875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcagacttcatgttcttCacaatcgctgcatcctgctc	8	13	6	14	1	4	1	3	0	1	1	7	1	5	1	1	0	3	5	1	0	1	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:2255875C>T	ENST00000406869.1	-	8	1283	c.726G>A	c.(724-726)gtG>gtA	p.V242V	MAD1L1_ENST00000265854.7_Silent_p.V242V|MAD1L1_ENST00000402746.1_Silent_p.V150V|MAD1L1_ENST00000399654.2_Silent_p.V242V|MAD1L1_ENST00000486340.1_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	242					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCATGTTCTTCACAATCGCTG	0.597																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(724-726)gtG>gtA		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.							57	60	59					7																	2255875		2030	4185	6215	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255875C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.726G>A	7.37:g.2255875C>T						MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.3_Silent_p.V242V	p.V242V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	7	992	-		Ovarian(82;0.0272)	242					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.726G>A	CCDS43539.1																																																																																				0.597	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		T	2255875	C	T	2255875	2	4	229	1	0	0	0	0	0	0	0	1	9147	813	29	3		3	MAD1L1	7	2255875	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		2255875	156882788	38	16074											
HOXA13	3209	broad.mit.edu	37	chr7	27238936	27238936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccgaggcccggcaccActggcatatccaggtagcca	8	4	12	17	2	0	0	0	0	0	0	1	1	1	0	6	5	1	3	6	5	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:27238936A>G	ENST00000222753.4	-	1	789	c.761T>C	c.(760-762)gTg>gCg	p.V254A	HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	254					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCCGGCACCACTGGCATATC	0.672			T	NUP98	AML																																	uc003szb.1				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(760-762)gTg>gCg		Homo sapiens homeobox A13 (HOXA13), mRNA.							34	38	37					7																	27238936		2203	4299	6502	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27238936A>G		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"Homeoboxes / ANTP class : HOXL subclass"	5102	protein-coding gene	gene with protein product		142959	"homeo box A13"	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.761T>C	7.37:g.27238936A>G	ENSP00000222753:p.Val254Ala					HOTTIP_uc022aau.1_5'Flank	p.V254A	NM_000522	NP_000513	P31271	HXA13_HUMAN			0	790	-			254					A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.761T>C	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998115	0.93227	.	.	ENSG00000106031	ENST00000222753	T	0.57907	0.37	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.88105	2.93	0.53688	D	0.999972	P	0.45283	0.855	P	0.48334	0.574	T	0.74731	-0.3566	10	0.66056	D	0.02	.	13.3724	0.60721	1.0:0.0:0.0:0.0	.	254	P31271	HXA13_HUMAN	A	254	ENSP00000222753:V254A	ENSP00000222753:V254A	V	-	2	0	HOXA13	27205461	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.792000	0.62467	1.810000	0.52873	0.374000	0.22700	GTG		0.672	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			G	27238936	A	G	27238936	3	3	229	1	0	0	0	0	1	0	0	0	7291	159	6	4	413	4	HOXA13	7	27238936	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	24983061	27238936	131899727	39	16075											
ASZ1	136991	broad.mit.edu	37	chr7	117067510	117067510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgcagcgcgctcgccGccatgccagccaaggaagct	7	4	13	17	5	0	0	0	0	0	0	2	1	0	1	5	2	4	3	5	2	2	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:117067510G>A	ENST00000284629.2	-	1	67	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCGCTCGCCGCCATGCCAGC	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(4-6)gCg>gTg		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							43	41	42					7																	117067510		2202	4297	6499	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067510G>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.5C>T	7.37:g.117067510G>A	ENSP00000284629:p.Ala2Val		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Missense_Mutation_p.A2V|ASZ1_uc011knp.1_5'UTR	p.A2V	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		0	68	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		2						Missense_Mutation	SNP	ENST00000284629.2	37	c.5C>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100468	0.56183	.	.	ENSG00000154438	ENST00000284629	T	0.68903	-0.36	5.14	4.26	0.50523	.	0.575022	0.17323	N	0.178403	T	0.79251	0.4414	M	0.76002	2.32	0.27159	N	0.961226	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.70498	-0.4855	10	0.72032	D	0.01	.	9.7025	0.40196	0.0938:0.0:0.9062:0.0	.	2;2	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	V	2	ENSP00000284629:A2V	ENSP00000284629:A2V	A	-	2	0	ASZ1	116854746	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	4.378000	0.59568	1.539000	0.49286	-0.136000	0.14681	GCG		0.692	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		A	117067510	G	A	117067510	3	1	229	1	0	0	0	0	1	0	0	0	1069	1087	38	1	1474	1	ASZ1	7	117067510	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	89828574	117067510	42071153	40	16076											
TRPV6	55503	broad.mit.edu	37	chr7	142575507	142575507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagggctgctatgtgtagCgctgtttcccccatggctcc	5	12	12	12	1	0	1	0	0	0	1	2	1	2	1	3	2	2	6	3	2	3	4	rs145875993		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:142575507C>T	ENST00000359396.3	-	3	491	c.246G>A	c.(244-246)gcG>gcA	p.A82A	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	82					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTATGTGTAGCGCTGTTTCCC	0.562																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(244-246)gcG>gcA		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.		C		0,4406		0,0,2203	106	100	102		246	-9.7	0	7	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPV6	NM_018646.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		82/726	142575507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575507C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.246G>A	7.37:g.142575507C>T						TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	p.A82A	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			2	475	-	Melanoma(164;0.059)		82					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.246G>A	CCDS5874.1																																																																																				0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		T	142575507	C	T	142575507	2	4	229	1	0	0	0	0	0	0	0	1	16597	755	27	1		1	TRPV6	7	142575507	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	25507997	142575507	16563156	41	16077											
DPYSL2	1808	broad.mit.edu	37	chr8	26492400	26492400	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctgctgaggtcatcgcCcaggcacggaagaagggtga	10	6	15	10	2	2	3	1	2	1	1	3	4	2	4	1	4	2	3	1	4	2	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:26492400C>A	ENST00000311151.5	+	8	1207	c.795C>A	c.(793-795)gcC>gcA	p.A265A	DPYSL2_ENST00000521913.1_Silent_p.A229A|DPYSL2_ENST00000523027.1_Silent_p.A229A|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	265					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCATCGCCCAGGCACGGA	0.607																																						uc003xfb.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(793-795)gcC>gcA		Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.							92	77	82					8																	26492400		2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26492400C>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.795C>A	8.37:g.26492400C>A						DPYSL2_uc003xfa.3_Silent_p.A370A|DPYSL2_uc011lag.2_Silent_p.A265A|DPYSL2_uc011lah.2_Silent_p.A229A	p.A265A	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	7	1226	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	265					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.795C>A	CCDS6051.1																																																																																				0.607	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		A	26492400	C	A	26492400	2	1	229	1	0	0	0	0	0	0	0	1	4747	610	22	5		5	DPYSL2	8	26492400	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		26492400	119871622	42	16078											
LYN	4067	broad.mit.edu	37	chr8	56854426	56854426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaggaaatatgggatGtataaaatcaaaagggaaag	20	8	10	3	0	2	0	2	0	0	0	2	3	2	3	0	3	1	1	0	3	9	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:56854426G>A	ENST00000519728.1	+	2	304	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	LYN_ENST00000520220.2_Missense_Mutation_p.C3Y	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	3					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	AATATGGGATGTATAAAATCA	0.343																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(7-9)tGt>tAt		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							86	80	82					8																	56854426		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56854426G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.8G>A	8.37:g.56854426G>A	ENSP00000428924:p.Cys3Tyr					LYN_uc003xsl.4_Missense_Mutation_p.C3Y	p.C3Y	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		1	290	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	3					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.8G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583803	0.86748	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.76709	-0.88;-1.04;0.22	5.72	5.72	0.89469	.	0.090722	0.85682	D	0.000000	D	0.86994	0.6067	L	0.57536	1.79	0.80722	D	1	P;D	0.89917	0.714;1.0	B;D	0.79784	0.414;0.993	D	0.87346	0.2334	10	0.87932	D	0	.	19.8752	0.96867	0.0:0.0:1.0:0.0	.	94;3	Q6NUK7;P07948	.;LYN_HUMAN	Y	3	ENSP00000428924:C3Y;ENSP00000428424:C3Y;ENSP00000428313:C3Y	ENSP00000428924:C3Y	C	+	2	0	LYN	57016980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.925000	0.92832	2.699000	0.92147	0.591000	0.81541	TGT		0.343	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		A	56854426	G	A	56854426	3	1	229	1	0	0	0	0	1	0	0	0	9107	1377	48	3	10	3	LYN	8	56854426	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	30362026	56854426	89509596	43	16079											
DMRT2	10655	broad.mit.edu	37	chr9	1056405	1056405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgtttctgcccaaccGcatggtgcctggacctgact	5	12	10	14	1	2	1	0	1	2	0	2	2	2	2	4	2	4	3	4	2	1	1	rs541457019		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:1056405G>A	ENST00000358146.2	+	3	818	c.818G>A	c.(817-819)cGc>cAc	p.R273H	DMRT2_ENST00000302441.6_Missense_Mutation_p.R273H|DMRT2_ENST00000382251.3_Missense_Mutation_p.R273H|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	273					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGCCCAACCGCATGGTGCCT	0.473																																						uc003zha.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(817-819)cGc>cAc		Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.							95	91	92					9																	1056405		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056405G>A	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.818G>A	9.37:g.1056405G>A	ENSP00000350865:p.Arg273His					DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.R117H|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.R273H	p.R273H	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	3	1018	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	273					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.818G>A	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505164	0.26949	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.24350	1.86;1.86;1.86	5.53	3.69	0.42338	.	0.302422	0.37095	N	0.002246	T	0.24624	0.0597	L	0.55481	1.735	0.32848	D	0.506258	B;B	0.25667	0.01;0.131	B;B	0.22880	0.005;0.042	T	0.22173	-1.0224	10	0.42905	T	0.14	-7.1803	11.7319	0.51741	0.1449:0.0:0.8551:0.0	.	273;117	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	H	273	ENSP00000371686:R273H;ENSP00000305785:R273H;ENSP00000350865:R273H	ENSP00000305785:R273H	R	+	2	0	DMRT2	1046405	0.605000	0.26941	0.396000	0.26296	0.936000	0.57629	0.835000	0.27531	0.706000	0.31912	0.585000	0.79938	CGC		0.473	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		A	1056405	G	A	1056405	3	1	229	1	0	0	0	0	1	0	0	0	4586	1087	38	1	885	1	DMRT2	9	1056405	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		1056405	140157026	44	16080											
KIAA1045	23349	broad.mit.edu	37	chr9	34971375	34971375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtctgctttcaaggatgGgctgcgggacaggccttcca	6	11	14	10	1	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	1	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:34971375G>T	ENST00000242315.3	+	2	162	c.80G>T	c.(79-81)gGg>gTg	p.G27V	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G27V	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	27							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCAAGGATGGGCTGCGGGAC	0.607																																						uc003zvq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(79-81)gGg>gTg		Homo sapiens KIAA1045 (KIAA1045), mRNA.							83	91	88					9																	34971375		2144	4246	6390	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971375G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.80G>T	9.37:g.34971375G>T	ENSP00000242315:p.Gly27Val					KIAA1045_uc003zvr.3_Missense_Mutation_p.G27V	p.G27V	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	258	+			27					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.80G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	24.5	4.533268	0.85812	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.66	5.66	0.87406	.	0.122889	0.53938	D	0.000046	T	0.78091	0.4229	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79087	-0.1947	9	0.72032	D	0.01	-12.5342	18.746	0.91792	0.0:0.0:1.0:0.0	.	27	Q9UPV7	K1045_HUMAN	V	27	.	ENSP00000242315:G27V	G	+	2	0	KIAA1045	34961375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.657000	0.90304	0.655000	0.94253	GGG		0.607	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		T	34971375	G	T	34971375	3	4	229	1	0	0	0	0	1	0	0	0	8207	1232	43	5	82	5	KIAA1045	9	34971375	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	33914970	34971375	106242056	45	16081											
OR13C3	138803	broad.mit.edu	37	chr9	107298263	107298263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaccgtaaaatatgatcaCcacagtcaggtgagctgagc	13	8	11	9	1	2	3	2	3	0	0	2	3	2	3	2	2	3	3	2	2	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:107298263C>A	ENST00000374781.2	-	1	874	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATGATCACCACAGTCAGG	0.418																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(832-834)Gtg>Ttg		Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.							137	128	131					9																	107298263		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298263C>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.832G>T	9.37:g.107298263C>A	ENSP00000363913:p.Val278Leu						p.V278L	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			0	832	-			278					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.832G>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848210	0.71603	.	.	ENSG00000204246	ENST00000374781	T	0.00355	7.91	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000932	T	0.01092	0.0036	M	0.91663	3.23	0.34897	D	0.746108	D	0.89917	1.0	D	0.80764	0.994	T	0.49437	-0.8940	10	0.87932	D	0	.	15.1793	0.72941	0.0:1.0:0.0:0.0	.	278	Q8NGS6	O13C3_HUMAN	L	278	ENSP00000363913:V278L	ENSP00000363913:V278L	V	-	1	0	OR13C3	106338084	0.224000	0.23674	0.998000	0.56505	0.919000	0.55068	0.710000	0.25748	2.508000	0.84585	0.655000	0.94253	GTG		0.418	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			A	107298263	C	A	107298263	3	1	229	1	0	0	0	0	1	0	0	0	10935	507	18	5	215	5	OR13C3	9	107298263	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	72326888	107298263	33915168	46	16082											
MYO3A	53904	broad.mit.edu	37	chr10	26312961	26312961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttctaggaatccacccCcaaaactaaggcagcctgag	13	9	7	12	0	1	1	0	1	1	0	2	2	2	2	4	2	2	1	4	2	5	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:26312961C>T	ENST00000265944.5	+	9	908	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MYO3A_ENST00000543632.1_Missense_Mutation_p.P248S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAATCCACCCCCAAAACTAAG	0.388																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(742-744)Cca>Tca		Homo sapiens myosin IIIA (MYO3A), mRNA.							134	137	136					10																	26312961		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26312961C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.742C>T	10.37:g.26312961C>T	ENSP00000265944:p.Pro248Ser					MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S	p.P248S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			8	1102	+			248			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.742C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818258	0.90790	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.65364	-0.15;-0.15	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.98	T	0.78578	-0.2150	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	248;248;248	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	248	ENSP00000265944:P248S;ENSP00000445909:P248S	ENSP00000265944:P248S	P	+	1	0	MYO3A	26352967	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	6.991000	0.76232	2.781000	0.95711	0.650000	0.86243	CCA		0.388	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26312961	C	T	26312961	3	4	229	1	0	0	0	0	1	0	0	0	10076	623	22	3	768	3	MYO3A	10	26312961	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		26312961	109221786	47	16083											
GDF10	2662	broad.mit.edu	37	chr10	48429323	48429323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagggccatggccccgCggagtagcccctgtgtggcc	4	5	16	16	3	0	0	0	0	0	0	0	1	0	1	7	4	1	1	7	4	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:48429323C>T	ENST00000224605.2	-	2	828	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	188					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATGGCCCCGCGGAGTAGCCC	0.731																																						uc001jfb.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(562-564)cGc>cAc		Homo sapiens growth differentiation factor 10 (GDF10), mRNA.							11	17	15					10																	48429323		2186	4263	6449	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429323C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.563G>A	10.37:g.48429323C>T	ENSP00000224605:p.Arg188His					GDF10_uc009xnp.3_Missense_Mutation_p.R187H|GDF10_uc009xnq.2_Missense_Mutation_p.R188H	p.R188H	NM_004962	NP_004953	P55107	BMP3B_HUMAN			1	991	-			188					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.563G>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707339	0.48412	.	.	ENSG00000107623	ENST00000224605	T	0.75050	-0.9	5.44	4.43	0.53597	.	0.248541	0.39909	N	0.001222	T	0.77611	0.4156	L	0.54323	1.7	0.31736	N	0.636399	D	0.76494	0.999	D	0.64687	0.928	T	0.77874	-0.2425	9	.	.	.	.	4.7708	0.13155	0.0:0.7899:0.0:0.2101	.	188	P55107	BMP3B_HUMAN	H	188	ENSP00000224605:R188H	.	R	-	2	0	GDF10	48049329	1.000000	0.71417	0.989000	0.46669	0.645000	0.38454	4.444000	0.60001	2.568000	0.86640	0.555000	0.69702	CGC		0.731	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		T	48429323	C	T	48429323	3	4	229	1	0	0	0	0	1	0	0	0	6311	768	27	1	881	1	GDF10	10	48429323	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	22116362	48429323	87105424	48	16084											
ZNF195	7748	broad.mit.edu	37	chr11	3381676	3381676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatctaaactttcccagtCtttccttaaatataaattat	13	17	1	10	0	3	0	1	0	2	0	5	0	5	0	2	0	1	0	2	0	8	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:3381676C>G	ENST00000399602.4	-	6	688	c.562G>C	c.(562-564)Gac>Cac	p.D188H	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.D120H|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.D120H|ZNF195_ENST00000005082.9_Missense_Mutation_p.D165H|ZNF195_ENST00000354599.6_Missense_Mutation_p.D116H|ZNF195_ENST00000526601.1_Missense_Mutation_p.D169H	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	188	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTTCCCAGTCTTTCCTTAAA	0.343																																						uc001lxt.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(562-564)Gac>Cac		Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.							70	70	70					11																	3381676		1844	4084	5928	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381676C>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.562G>C	11.37:g.3381676C>G	ENSP00000382511:p.Asp188His					ZNF195_uc010qxr.2_Missense_Mutation_p.D169H|ZNF195_uc009ydz.3_Missense_Mutation_p.D143H|ZNF195_uc001lxu.3_Missense_Mutation_p.D120H|ZNF195_uc001lxv.3_Missense_Mutation_p.D165H|ZNF195_uc021qck.1_Missense_Mutation_p.D120H|ZNF195_uc001lxs.3_Missense_Mutation_p.D116H	p.D188H	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	5	744	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	188			Spacer.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.562G>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.645338	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410;ENST00000533036;ENST00000529678	T;T;T;T;T;T;T;T;T	0.07327	3.23;3.21;3.2;3.2;3.22;3.22;3.81;6.29;6.13	0.826	-0.59	0.11679	.	.	.	.	.	T	0.17365	0.0417	L	0.58510	1.815	0.09310	N	1	D;D;D;D;D;D	0.89917	0.984;0.996;1.0;0.999;0.999;0.999	D;P;D;D;D;D	0.83275	0.986;0.769;0.996;0.979;0.99;0.979	T	0.18650	-1.0330	9	0.27082	T	0.32	.	4.2585	0.10730	0.0:0.5608:0.4392:0.0	.	169;47;165;120;188;116	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	H	116;188;120;120;165;169;143;184;120	ENSP00000346613:D116H;ENSP00000382511:D188H;ENSP00000344483:D120H;ENSP00000387998:D120H;ENSP00000005082:D165H;ENSP00000435828:D169H;ENSP00000431937:D143H;ENSP00000433911:D184H;ENSP00000434715:D120H	ENSP00000005082:D165H	D	-	1	0	ZNF195	3338252	0.005000	0.15991	0.005000	0.12908	0.443000	0.32047	0.620000	0.24403	-0.202000	0.10268	0.313000	0.20887	GAC		0.343	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			G	3381676	C	G	3381676	3	3	229	1	0	0	0	0	1	0	0	0	17755	913	32	5	1331	5	ZNF195	11	3381676	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		3381676	131624840	49	16085											
CD44	960	broad.mit.edu	37	chr11	35226085	35226085	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactcctagtagtacaacgGaagaaacagctacccagaag	17	5	8	11	1	0	2	0	0	0	2	1	3	1	3	2	1	6	3	2	1	9	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:35226085G>T	ENST00000428726.2	+	10	1303	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.E394*|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Nonsense_Mutation_p.E351*|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.E395*|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Intron|CD44_ENST00000352818.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	394	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TAGTACAACGGAAGAAACAGC	0.453																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1180-1182)Gaa>Taa		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						156	132	140					11																	35226085		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35226085G>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1180G>T	11.37:g.35226085G>T	ENSP00000398632:p.Glu394*					CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.E351*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron	p.E394*	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		9	1614	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	394			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.1180G>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600750|3.600750	0.66332|0.66332	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000437706;ENST00000428726;ENST00000531110;ENST00000528672|ENST00000526553	.|.	.|.	.|.	5.05|5.05	4.06|4.06	0.47325|0.47325	.|.	0.546643|.	0.16792|.	N|.	0.199353|.	.|T	.|0.61236	.|0.2331	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57207	.|-0.7851	.|4	0.46703|.	T|.	0.11|.	-11.0094|-11.0094	10.7323|10.7323	0.46104|0.46104	0.0:0.1927:0.8073:0.0|0.0:0.1927:0.8073:0.0	.|.	.|.	.|.	.|.	X|V	351;395;394;394;106;46|47	.|.	ENSP00000389830:E351X|.	E|G	+|+	1|2	0|0	CD44|CD44	35182661|35182661	0.989000|0.989000	0.36119|0.36119	0.807000|0.807000	0.32361|0.32361	0.003000|0.003000	0.03518|0.03518	2.509000|2.509000	0.45459|0.45459	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		T	35226085	G	T	35226085	4	4	229	1	0	0	0	0	0	1	0	0	3017	1175	41	5	1218	5	CD44	11	35226085	Nonsense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	31844409	35226085	99780431	50	16086											
PTPRJ	5795	broad.mit.edu	37	chr11	48134462	48134462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagctctggagccaaCgatagtttaagaacacctga	14	8	11	8	1	1	3	0	2	1	1	1	5	1	4	2	2	4	2	2	2	5	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:48134462C>T	ENST00000418331.2	+	3	631	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PTPRJ_ENST00000526550.1_3'UTR|PTPRJ_ENST00000440289.2_Silent_p.N93N	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	93					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGGAGCCAACGATAGTTTAA	0.453																																						uc001ngp.4																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(277-279)aaC>aaT		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							119	115	116					11																	48134462		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48134462C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.279C>T	11.37:g.48134462C>T						PTPRJ_uc001ngo.4_Silent_p.N93N	p.N93N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			2	634	+			93					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.279C>T	CCDS7945.1																																																																																				0.453	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			T	48134462	C	T	48134462	2	4	229	1	0	0	0	0	0	0	0	1	12804	535	19	1		1	PTPRJ	11	48134462	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	12908377	48134462	86872054	51	16087											
SLC29A2	3177	broad.mit.edu	37	chr11	66133408	66133409	+	Splice_Site	DNP	CA	CA	AC																															ccagccctggtgtgcttaccCacaggaagtaagaggtcagg																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:66133408_66133409CA>AC	ENST00000357440.2	-	10	1285_1286	c.1057_1058TG>GT	c.(1057-1059)TGg>GTg	p.W353V	SLC29A2_ENST00000544554.1_Splice_Site_p.W353V|SLC29A2_ENST00000311161.7_Splice_Site_p.V308G|SLC29A2_ENST00000546034.1_Splice_Site_p.W353V	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	353					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.W353S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGTGCTTACCCACAGGAAGTAA	0.535																																						uc001oht.3																			1	Substitution - Missense(1)	p.W353S(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e10+1		Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.																																				SO:0001630	splice_region_variant	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66133408_66133409CA>AC	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1057_1058delinsAC	11.37:g.66133408_66133409delinsAC						SLC29A2_uc009yrf.3_Splice_Site_p.W233_splice|SLC29A2_uc001ohu.3_Splice_Site_p.W353_splice|SLC29A2_uc001ohv.3_Splice_Site_p.A309_splice|AX747485_uc001ohw.1_5'Flank	p.W353_splice	NM_001532	NP_001523	Q14542	S29A2_HUMAN			10	1288	-			353					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	DNP	ENST00000357440.2	37	c.1059_splice	CCDS8137.1																																																																																				0.535	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532	Missense_Mutation	AC	66133409	CA	AC	66133408	5	1	229	1	0	0	0	0	0	0	1	0	14535	608	21	5	324	5	SLC29A2	11	66133408	Splice_Site	DNP	CA	TCGA-32-2494-01A-01D-1353-08	17998946	66133408	68873108	52	16088											
C11orf82	220042	broad.mit.edu	37	chr11	82639902	82639905	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															ttccttaaaagttgcagaatCaaacaaattgtttgttatta																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:82639902_82639905delCAAA	ENST00000533655.1	+	4	409_412	c.197_200delCAAA	c.(196-201)tcaaacfs	p.SN66fs	C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000524921.1_Frame_Shift_Del_p.SN66fs|C11orf82_ENST00000525361.1_Frame_Shift_Del_p.SN66fs|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Frame_Shift_Del_p.SN66fs|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525388.1_Frame_Shift_Del_p.SN66fs	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		66					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GTTGCAGAATCAAACAAATTGTTT	0.343																																						uc001ozt.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(196-201)tcaaacfs		Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.																																				SO:0001589	frameshift_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82639902_82639905delCAAA																												ENST00000533655.1:c.197_200delCAAA	11.37:g.82639906_82639909delCAAA	ENSP00000435421:p.Ser66fs					C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs	p.S66fs	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			3	441_444	+			66					Q96LK6|Q9H856	Frame_Shift_Del	DEL	ENST00000533655.1	37	c.197_200delCAAA	CCDS8263.1																																																																																				0.343	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			-	82639905	CAAA	-	82639902	7	5	229	1	0	1	0	1	0	0	0	0	1665	838	29	0	203	0	C11orf82	11	82639902	Frame_Shift_Del	DEL	CAAA	TCGA-32-2494-01A-01D-1353-08	16506494	82639902	52366614	53	16089											
ROBO4	54538	broad.mit.edu	37	chr11	124764984	124764984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagtgggggtacctggtagCcacggatgatgccattgtgg	7	10	16	8	1	0	1	0	1	0	0	0	2	0	2	3	5	3	2	3	5	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:124764984C>T	ENST00000306534.3	-	7	1627	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	ROBO4_ENST00000533054.1_Missense_Mutation_p.G236D|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	381	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TACCTGGTAGCCACGGATGAT	0.542																																						uc001qbg.3																			0		p.R380R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1141-1143)gGc>gAc		Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.							168	128	141					11																	124764984		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124764984C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1142G>A	11.37:g.124764984C>T	ENSP00000304945:p.Gly381Asp					ROBO4_uc010sas.2_Missense_Mutation_p.G236D|ROBO4_uc001qbh.2_Missense_Mutation_p.G271D|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'UTR	p.G381D	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1282	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	381			Fibronectin type-III 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1142G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236849	0.79800	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.61040	0.14;0.14	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38164	N	0.001791	T	0.74313	0.3700	M	0.71296	2.17	0.48571	D	0.999672	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73107	-0.4087	10	0.37606	T	0.19	.	15.8196	0.78628	0.0:1.0:0.0:0.0	.	271;381	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	D	381;271;236	ENSP00000304945:G381D;ENSP00000437129:G236D	ENSP00000304945:G381D	G	-	2	0	ROBO4	124270194	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.368000	0.44222	2.506000	0.84524	0.563000	0.77884	GGC		0.542	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		T	124764984	C	T	124764984	3	4	229	1	0	0	0	0	1	0	0	0	13516	739	26	3	1929	3	ROBO4	11	124764984	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	42125082	124764984	10241532	54	16090											
VEZT	55591	broad.mit.edu	37	chr12	95660405	95660405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatttccagaggatttaCactgtgagttcattttttat	10	18	8	5	0	1	3	1	2	0	1	2	4	2	4	1	1	1	1	1	1	2	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:95660405C>T	ENST00000436874.1	+	5	812	c.707C>T	c.(706-708)aCa>aTa	p.T236I	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T188I	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	236					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGAGGATTTACACTGTGAGTT	0.313																																						uc001tdz.2																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(706-708)aCa>aTa		Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.							48	45	46					12																	95660405		1792	4064	5856	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660405C>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.707C>T	12.37:g.95660405C>T	ENSP00000410083:p.Thr236Ile					VEZT_uc001tds.3_Missense_Mutation_p.T188I|VEZT_uc001tdv.3_Missense_Mutation_p.T205I|VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I	p.T236I	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			4	812	+			236					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.707C>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825855	0.90955	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.48201	0.82;0.82;0.82	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	0.966;1.0;1.0;1.0	P;D;D;D	0.91635	0.862;0.999;0.999;0.999	T	0.66320	-0.5953	10	0.59425	D	0.04	-12.5246	19.0822	0.93187	0.0:1.0:0.0:0.0	.	236;236;188;188	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	I	236;188;188;236	ENSP00000410083:T236I;ENSP00000261219:T188I;ENSP00000380894:T188I	ENSP00000261219:T188I	T	+	2	0	VEZT	94184536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.087000	0.76893	2.559000	0.86315	0.591000	0.81541	ACA		0.313	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		T	95660405	C	T	95660405	3	4	229	1	0	0	0	0	1	0	0	0	17153	478	17	3	725	3	VEZT	12	95660405	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		95660405	38191490	55	16091											
STAB2	55576	broad.mit.edu	37	chr12	104147041	104147041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgctccccactgggccaGtataagctgacctttgacaa	10	9	8	14	1	0	2	0	2	0	0	1	2	1	2	4	1	2	3	4	1	4	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:104147041G>A	ENST00000388887.2	+	61	6828	c.6624G>A	c.(6622-6624)caG>caA	p.Q2208Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACTGGGCCAGTATAAGCTGA	0.567																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6622-6624)caG>caA		Homo sapiens stabilin 2 (STAB2), mRNA.							96	84	88					12																	104147041		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104147041G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6624G>A	12.37:g.104147041G>A						STAB2_uc009zug.3_Non-coding_Transcript	p.Q2208Q	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			60	6810	+			2208			Link.			Silent	SNP	ENST00000388887.2	37	c.6624G>A	CCDS31888.1																																																																																				0.567	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104147041	G	A	104147041	2	1	229	1	0	0	0	0	0	0	0	1	15237	1020	36	3		3	STAB2	12	104147041	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	8486636	104147041	29704854	56	16092											
ABCB9	23457	broad.mit.edu	37	chr12	123434439	123434439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaatatgagggtaaaaatgCcgccccgaatacctgcggca	14	6	10	11	3	0	1	0	1	0	0	0	2	0	1	4	2	3	2	4	2	7	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:123434439C>T	ENST00000542678.1	-	4	3581	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ABCB9_ENST00000392439.3_Missense_Mutation_p.G248D|ABCB9_ENST00000442028.2_Missense_Mutation_p.G248D|ABCB9_ENST00000442833.2_Missense_Mutation_p.G248D|ABCB9_ENST00000346530.5_Missense_Mutation_p.G248D|ABCB9_ENST00000344275.7_Missense_Mutation_p.G248D|ABCB9_ENST00000280560.8_Missense_Mutation_p.G248D|ABCB9_ENST00000540285.1_Missense_Mutation_p.G248D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	248	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTAAAAATGCCGCCCCGAAT	0.522																																					Ovarian(49;786 1333 9175 38236)	uc001udm.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(742-744)gGc>gAc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.							141	142	141					12																	123434439		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123434439C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.743G>A	12.37:g.123434439C>T	ENSP00000440288:p.Gly248Asp					ABCB9_uc021rfo.1_Missense_Mutation_p.G248D|ABCB9_uc021rfp.1_Missense_Mutation_p.G248D|ABCB9_uc001udo.4_Missense_Mutation_p.G248D|ABCB9_uc010taj.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.3_Missense_Mutation_p.G30D|ABCB9_uc021rfq.1_Missense_Mutation_p.G248D|ABCB9_uc001udr.3_Missense_Mutation_p.G248D	p.G248D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	3	1053	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		248			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.743G>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318691	0.95682	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000541424	T;D;T;T;T;T;D	0.91686	-1.36;-2.89;-1.36;-1.36;-1.36;-1.36;-2.54	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.995;1.0	D;D;D;D;D	0.91635	0.995;0.999;0.996;0.965;0.999	D	0.95576	0.8642	10	0.36615	T	0.2	-41.8864	20.1278	0.97990	0.0:1.0:0.0:0.0	.	248;248;30;248;248	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	D	248;248;248;248;248;248;27	ENSP00000280560:G248D;ENSP00000441734:G248D;ENSP00000280559:G248D;ENSP00000376234:G248D;ENSP00000440288:G248D;ENSP00000394898:G248D;ENSP00000440138:G27D	ENSP00000280560:G248D	G	-	2	0	ABCB9	122000392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.768000	0.95171	0.561000	0.74099	GGC		0.522	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		T	123434439	C	T	123434439	3	4	229	1	0	0	0	0	1	0	0	0	48	739	26	3	1593	3	ABCB9	12	123434439	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	19287398	123434439	10417456	57	16093											
NCOR2	9612	broad.mit.edu	37	chr12	124857156	124857156	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgagctgttgttgacagtgGctgtgcagggcgagaaggaa	9	9	17	6	1	0	3	0	2	0	1	0	5	0	4	0	3	2	5	0	3	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:124857156G>A	ENST00000405201.1	-	20	2219	c.2219C>T	c.(2218-2220)gCc>gTc	p.A740V	NCOR2_ENST00000404121.2_Splice_Site_p.A293V|NCOR2_ENST00000397355.1_Splice_Site_p.A723V|NCOR2_ENST00000404621.1_Splice_Site_p.A722V|NCOR2_ENST00000429285.2_Splice_Site_p.A722V|NCOR2_ENST00000356219.3_Splice_Site_p.A740V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	740					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTTGACAGTGGCTGTGCAGGG	0.647																																						uc021rga.1																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e20-1		Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.							42	48	46					12																	124857156		2128	4234	6362	SO:0001630	splice_region_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124857156G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2219-1C>T	12.37:g.124857156G>A						NCOR2_uc021rgb.1_Splice_Site_p.A723_splice|NCOR2_uc010tbb.2_Splice_Site_p.A740_splice|NCOR2_uc010tbc.2_Splice_Site_p.A722_splice|NCOR2_uc021rgc.1_Splice_Site_p.A722_splice|NCOR2_uc010tba.2_Splice_Site_p.A740_splice|NCOR2_uc001ugj.1_Splice_Site_p.A740_splice	p.A740_splice	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	20	2336	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		740					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2219_splice	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396879	0.25205	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	T;T;T;T;T;T;T;T	0.53640	2.08;1.52;2.14;1.52;1.52;1.52;0.61;1.52	4.63	3.7	0.42460	.	0.277517	0.34802	N	0.003664	T	0.37679	0.1012	L	0.38175	1.15	0.32632	N	0.521791	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.46034	-0.9220	10	0.54805	T	0.06	.	11.7344	0.51757	0.0906:0.0:0.9094:0.0	.	722;723;740	C9J0Q5;C9J239;C9JFD3	.;.;.	V	740;722;740;723;740;293;722;740;113	ENSP00000384018:A740V;ENSP00000384202:A722V;ENSP00000348551:A740V;ENSP00000380513:A723V;ENSP00000385618:A293V;ENSP00000400281:A722V;ENSP00000402808:A740V;ENSP00000408247:A113V	ENSP00000348551:A740V	A	-	2	0	NCOR2	123423109	0.995000	0.38212	0.223000	0.23860	0.488000	0.33401	2.368000	0.44222	0.869000	0.35703	0.561000	0.74099	GCC		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	Missense_Mutation	A	124857156	G	A	124857156	5	1	229	1	0	0	0	0	0	0	1	0	10236	1217	42	3	5461	3	NCOR2	12	124857156	Splice_Site	SNP	G	TCGA-32-2494-01A-01D-1353-08	1422717	124857156	8994739	58	16094											
PIWIL1	9271	broad.mit.edu	37	chr12	130830969	130830969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttccggctgacatcccGtccccagtgggccttatatc	6	11	8	16	2	0	1	0	1	0	0	4	1	3	1	6	2	0	1	6	2	2	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:130830969G>A	ENST00000245255.3	+	5	643	c.371G>A	c.(370-372)cGt>cAt	p.R124H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	124					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGACATCCCGTCCCCAGTGG	0.393																																						uc001uik.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(370-372)cGt>cAt		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							83	82	82					12																	130830969		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830969G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.371G>A	12.37:g.130830969G>A	ENSP00000245255:p.Arg124His					PIWIL1_uc001uij.2_Missense_Mutation_p.R124H	p.R124H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	642	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.371G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718755	0.68844	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539995;ENST00000542723	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.71870	0.512;0.975	T	0.00121	-1.2029	10	0.36615	T	0.2	-4.5455	18.8981	0.92432	0.0:0.0:1.0:0.0	.	124;124	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	124	ENSP00000245255:R124H;ENSP00000442086:R124H;ENSP00000439096:R124H;ENSP00000438582:R124H	ENSP00000245255:R124H	R	+	2	0	PIWIL1	129396922	1.000000	0.71417	0.995000	0.50966	0.557000	0.35523	9.833000	0.99426	2.691000	0.91804	0.650000	0.86243	CGT		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130830969	G	A	130830969	3	1	229	1	0	0	0	0	1	0	0	0	11957	1145	40	1	385	1	PIWIL1	12	130830969	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	5973813	130830969	3020926	59	16095											
ENOX1	55068	broad.mit.edu	37	chr13	43788215	43788215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctgtttgaacatgcGtggcagcctcatcaaaagca	12	10	9	10	1	2	1	2	1	0	0	3	2	3	1	2	1	4	3	2	1	4	2	rs146880051		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr13:43788215G>A	ENST00000261488.6	-	17	2420	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	ENOX1_ENST00000412891.1_Missense_Mutation_p.R615C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	615					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGAACATGCGTGGCAGCCTC	0.433																																						uc001uza.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1843-1845)Cgc>Tgc		Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405		0,1,2202	107	101	103		1843,1843,1843	6.2	1	13	dbSNP_134	103	2,8598		0,2,4298	no	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	180,180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	615/644,615/644,615/644	43788215	3,13003	2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43788215G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1843C>T	13.37:g.43788215G>A	ENSP00000261488:p.Arg615Cys					ENOX1_uc001uzc.4_Missense_Mutation_p.R615C|ENOX1_uc001uzb.4_Missense_Mutation_p.R615C	p.R615C	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	16	2143	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	615					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.1843C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.044834	0.36085	2.27E-4	2.33E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.44482	0.92;0.92	6.16	6.16	0.99307	.	0.111045	0.64402	D	0.000011	T	0.25494	0.0620	N	0.02802	-0.49	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	T	0.09818	-1.0657	10	0.37606	T	0.19	-12.7816	20.8598	0.99761	0.0:0.0:1.0:0.0	.	615	Q8TC92	ENOX1_HUMAN	C	615	ENSP00000261488:R615C;ENSP00000415054:R615C	ENSP00000261488:R615C	R	-	1	0	ENOX1	42686215	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.109000	0.64615	2.937000	0.99478	0.650000	0.86243	CGC		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		A	43788215	G	A	43788215	3	1	229	1	0	0	0	0	1	0	0	0	5126	1145	40	1	92	1	ENOX1	13	43788215	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		43788215	71381663	60	16096											
HEATR5A	25938	broad.mit.edu	37	chr14	31790820	31790820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagacggagctggtcaCtgtgatctgtggcagccata	11	8	13	9	1	2	3	1	1	1	2	2	4	2	4	1	3	2	2	1	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:31790820C>T	ENST00000389961.3	-	24	3835	c.3836G>A	c.(3835-3837)aGt>aAt	p.S1279N	HEATR5A_ENST00000543095.2_Missense_Mutation_p.S1285N|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S1279N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S992N			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1279										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGCTGGTCACTGTGATCTGT	0.408																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3853-3855)aGt>aAt		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							26	29	28					14																	31790820		1901	4124	6025	SO:0001583	missense	25938						binding	g.chr14:31790820C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3836G>A	14.37:g.31790820C>T	ENSP00000374611:p.Ser1279Asn					HEATR5A_uc010ami.3_Missense_Mutation_p.S890N	p.S1285N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	24	4039	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1279					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3854G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.76|13.76	2.333200|2.333200	0.41297|0.41297	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.64260|.	-0.09;0.68;-0.09;-0.09|.	5.34|5.34	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59514|0.59514	0.2199|0.2199	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	B|.	0.14012|.	0.009|.	B|.	0.15052|.	0.012|.	T|T	0.56481|0.56481	-0.7972|-0.7972	10|5	0.35671|.	T|.	0.21|.	.|.	14.2411|14.2411	0.65956|0.65956	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	1279|.	Q86XA9-2|.	.|.	N|M	1279;1279;992;1285|913	ENSP00000374611:S1279N;ENSP00000405407:S1279N;ENSP00000408681:S992N;ENSP00000437968:S1285N|.	ENSP00000374611:S1279N|.	S|V	-|-	2|1	0|0	HEATR5A|HEATR5A	30860571|30860571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	6.056000|6.056000	0.71111|0.71111	1.254000|1.254000	0.44035|0.44035	-0.680000|-0.680000	0.03767|0.03767	AGT|GTG		0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		T	31790820	C	T	31790820	3	4	229	1	0	0	0	0	1	0	0	0	7031	565	20	3	2334	3	HEATR5A	14	31790820	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		31790820	75558720	61	16097											
FOS	2353	broad.mit.edu	37	chr14	75745716	75745716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgggcttcaacgcagactacGaggcgtcatcctcccgctgc	7	7	11	16	5	2	1	2	0	0	1	4	2	4	1	2	2	3	3	2	2	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:75745716G>C	ENST00000303562.4	+	1	240	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	FOS_ENST00000555242.1_Missense_Mutation_p.E11Q|FOS_ENST00000535987.1_Missense_Mutation_p.E11Q|FOS_ENST00000555347.1_5'Flank|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000555686.1_5'Flank|FOS_ENST00000554617.1_Missense_Mutation_p.E11Q	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	11					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CGCAGACTACGAGGCGTCATC	0.662																																						uc001xrn.3																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(31-33)Gag>Cag		Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.							46	39	41					14																	75745716		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75745716G>C	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.31G>C	14.37:g.75745716G>C	ENSP00000306245:p.Glu11Gln					FOS_uc010tva.2_Missense_Mutation_p.E11Q|FOS_uc010asi.3_5'Flank	p.E11Q	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	0	236	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	11					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.31G>C	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	36	5.872907	0.97049	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000554212;ENST00000535987;ENST00000555242	T;T;T;T	0.65732	0.42;0.73;0.82;-0.17	5.16	5.16	0.70880	.	0.357708	0.31167	N	0.008139	T	0.65595	0.2706	L	0.34521	1.04	0.80722	D	1	D;P	0.53619	0.961;0.889	P;B	0.53224	0.721;0.394	T	0.68569	-0.5374	10	0.72032	D	0.01	-0.9646	18.8171	0.92081	0.0:0.0:1.0:0.0	.	11;11	B4DQ65;P01100	.;FOS_HUMAN	Q	11	ENSP00000306245:E11Q;ENSP00000450519:E11Q;ENSP00000442268:E11Q;ENSP00000452386:E11Q	ENSP00000306245:E11Q	E	+	1	0	FOS	74815469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.660000	0.91121	2.843000	0.97960	0.655000	0.94253	GAG		0.662	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		C	75745716	G	C	75745716	3	2	229	1	0	0	0	0	1	0	0	0	5985	1059	37	5	33	5	FOS	14	75745716	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	43954896	75745716	31603824	62	16098											
KCNK13	56659	broad.mit.edu	37	chr14	90650893	90650893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagagccaaggcctctatcGctttgccaacttcgtcttca	8	12	8	13	2	3	1	1	1	2	1	5	2	3	1	3	1	3	1	3	1	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:90650893G>A	ENST00000282146.4	+	2	1214	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	258					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCCTCTATCGCTTTGCCAAC	0.493																																						uc001xye.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(772-774)cGc>cAc		Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.							118	106	110					14																	90650893		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650893G>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.773G>A	14.37:g.90650893G>A	ENSP00000282146:p.Arg258His						p.R258H	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			1	1215	+		all_cancers(154;0.186)	258					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.773G>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370356	0.82573	.	.	ENSG00000152315	ENST00000282146	T	0.41065	1.01	5.42	4.53	0.55603	Ion transport 2 (1);	0.174849	0.27936	N	0.017248	T	0.72028	0.3410	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79492	-0.1781	10	0.59425	D	0.04	.	14.0044	0.64453	0.0734:0.0:0.9266:0.0	.	258	Q9HB14	KCNKD_HUMAN	H	258	ENSP00000282146:R258H	ENSP00000282146:R258H	R	+	2	0	KCNK13	89720646	1.000000	0.71417	0.992000	0.48379	0.772000	0.43724	6.772000	0.75001	1.270000	0.44297	0.655000	0.94253	CGC		0.493	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		A	90650893	G	A	90650893	3	1	229	1	0	0	0	0	1	0	0	0	8061	1087	38	1	779	1	KCNK13	14	90650893	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	14905177	90650893	16698647	63	16099											
RYR3	6263	broad.mit.edu	37	chr15	34014993	34014993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgcttcggcccggccctgCggggtgaggggggaaacggg	5	5	21	10	4	0	1	0	1	0	0	1	2	0	2	2	8	3	1	2	8	1	1	rs200619009		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:34014993C>T	ENST00000389232.4	+	44	6767	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2233W|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2233	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCGGCCCTGCGGGGTGAGGG	0.587																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6697-6699)Cgg>Tgg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							82	91	88					15																	34014993		1977	4158	6135	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34014993C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6697C>T	15.37:g.34014993C>T	ENSP00000373884:p.Arg2233Trp					RYR3_uc010bar.3_Missense_Mutation_p.R2233W	p.R2233W	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	43	6767	+		all_lung(180;7.18e-09)	2233			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6697C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586037	0.66105	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97688	-4.49;-4.49	4.93	2.82	0.32997	.	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.84082	2.675	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.98748	1.0719	10	0.87932	D	0	.	11.3033	0.49320	0.5983:0.4017:0.0:0.0	.	2233;2233	Q15413-2;Q15413	.;RYR3_HUMAN	W	2233	ENSP00000373884:R2233W;ENSP00000399610:R2233W	ENSP00000354735:R2233W	R	+	1	2	RYR3	31802285	0.811000	0.29063	1.000000	0.80357	0.725000	0.41563	0.671000	0.25172	1.230000	0.43646	0.555000	0.69702	CGG		0.587	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34014993	C	T	34014993	3	4	229	1	0	0	0	0	1	0	0	0	13770	759	27	1	6871	1	RYR3	15	34014993	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		34014993	68516399	64	16100											
CILP	8483	broad.mit.edu	37	chr15	65495753	65495753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttacagcacagagacacGctctgcccagctctccgtgc	8	7	9	17	2	2	1	0	0	2	1	3	2	2	1	3	0	5	3	3	0	1	1	rs193195655		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:65495753G>A	ENST00000261883.4	-	7	1141	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	325	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAGAGACACGCTCTGCCCAG	0.498													G|||	1	0.000199681	0	0	5008	,	,		19819	0		0.001	False		,,,				2504	0					uc002aon.2																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(973-975)agC>agT		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							124	109	114					15																	65495753		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65495753G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.975C>T	15.37:g.65495753G>A							p.S325S	NM_003613	NP_003604	O75339	CILP1_HUMAN			6	1156	-			325			Ig-like C2-type.		B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.975C>T	CCDS10203.1																																																																																				0.498	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65495753	G	A	65495753	2	1	229	1	0	0	0	0	0	0	0	1	3429	1078	38	1		1	CILP	15	65495753	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	31480760	65495753	37035639	65	16101											
SCAMP2	10066	broad.mit.edu	37	chr15	75137888	75137888	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatgatgactgataTggccagggaatgattatcca	13	10	9	9	0	1	4	1	4	0	0	2	5	2	5	3	2	0	0	3	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:75137888T>G	ENST00000268099.9	-	8	890	c.781A>C	c.(781-783)Ata>Cta	p.I261L	ULK3_ENST00000569437.1_5'Flank|ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	261					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ATGACTGATATGGCCAGGGAA	0.557																																						uc002azb.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(781-783)Ata>Cta		Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.							187	163	172					15																	75137888		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75137888T>G	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.781A>C	15.37:g.75137888T>G	ENSP00000268099:p.Ile261Leu					ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L	p.I261L	NM_005697	NP_005688	O15127	SCAM2_HUMAN			7	855	-			261					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.781A>C	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457903	0.63401	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.16897	2.31	4.91	1.92	0.25849	.	0.200539	0.42420	N	0.000707	T	0.07908	0.0198	N	0.08118	0	0.28975	N	0.888981	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.16129	-1.0413	10	0.51188	T	0.08	.	7.6838	0.28528	0.0:0.7138:0.1332:0.1531	.	261;230	O15127;B3KU14	SCAM2_HUMAN;.	L	261;230	ENSP00000268099:I261L	ENSP00000268099:I261L	I	-	1	0	SCAMP2	72924941	0.999000	0.42202	0.632000	0.29296	0.451000	0.32288	4.032000	0.57274	0.488000	0.27723	-0.208000	0.12717	ATA		0.557	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		G	75137888	T	G	75137888	3	3	229	1	0	0	0	0	1	0	0	0	13871	1464	51	5	216	5	SCAMP2	15	75137888	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	9642135	75137888	27393504	66	16102											
ADCY9	115	broad.mit.edu	37	chr16	4033331	4033331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtggccgcctcgtacttCaggaagcaggtggtggacag	8	7	16	10	3	1	0	1	0	0	0	2	2	1	2	2	6	2	2	2	6	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:4033331C>T	ENST00000294016.3	-	7	2959	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	807					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCGTACTTCAGGAAGCAGG	0.637											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2419-2421)ctG>ctA		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							48	37	41					16																	4033331		2193	4296	6489	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4033331C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2421G>A	16.37:g.4033331C>T			OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	615		p.L807L	NM_001116	NP_001107	O60503	ADCY9_HUMAN			6	2960	-			807					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.2421G>A	CCDS32382.1																																																																																				0.637	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4033331	C	T	4033331	2	4	229	1	0	0	0	0	0	0	0	1	301	813	29	3		3	ADCY9	16	4033331	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		4033331	86321422	67	16103											
RBL2	5934	broad.mit.edu	37	chr16	53500990	53500990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgccacctcagaacctGgaaagggcagatgaaatttg	13	8	11	9	0	2	3	2	1	0	2	2	4	2	4	3	2	2	1	3	2	3	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:53500990G>T	ENST00000262133.6	+	14	2021	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.L412L	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	628	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCAGAACCTGGAAAGGGCAG	0.423																																						uc002ehi.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1882-1884)ctG>ctT		Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.							157	159	159					16																	53500990		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53500990G>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1884G>T	16.37:g.53500990G>T						RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.3_Silent_p.L338L|RBL2_uc010vgw.2_Silent_p.L412L	p.L628L	NM_005611	NP_005602	Q08999	RBL2_HUMAN			13	2002	+			628			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.1884G>T	CCDS10748.1																																																																																				0.423	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53500990	G	T	53500990	2	4	229	1	0	0	0	0	0	0	0	1	13110	1335	47	5		5	RBL2	16	53500990	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	49467659	53500990	36853763	68	16104											
NOB1	28987	broad.mit.edu	37	chr16	69782153	69782153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaacagccatggcagCgcaagatgtagctccgggcc	11	6	12	12	2	0	2	0	1	0	1	1	2	1	2	3	2	4	4	3	2	3	2	rs199699618		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:69782153C>A	ENST00000268802.5	-	7	835	c.806G>T	c.(805-807)cGc>cTc	p.R269L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	269					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522																																						uc002exs.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(805-807)cGc>cTc		Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.							66	59	61					16																	69782153		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69782153C>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.806G>T	16.37:g.69782153C>A	ENSP00000268802:p.Arg269Leu						p.R269L	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			6	822	-			269					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.806G>T	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293390	0.95546	.	.	ENSG00000141101	ENST00000268802	T	0.42900	0.96	5.23	5.23	0.72850	Nin one binding (NOB1) Zn-ribbon-like (1);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.84219	2.685	0.80722	D	1	D	0.54964	0.969	P	0.57204	0.815	T	0.67643	-0.5618	9	.	.	.	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	269	Q9ULX3	NOB1_HUMAN	L	269	ENSP00000268802:R269L	.	R	-	2	0	NOB1	68339654	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.335000	0.79234	2.589000	0.87451	0.555000	0.69702	CGC		0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		A	69782153	C	A	69782153	3	1	229	1	0	0	0	0	1	0	0	0	10511	768	27	5	444	5	NOB1	16	69782153	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	16281163	69782153	20572600	69	16105											
CLDN7	1366	broad.mit.edu	37	chr17	7163801	7163801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagagcagtgcacctcccagGatgactagggcagaccctgc	10	5	13	13	0	0	3	0	1	0	2	1	5	1	4	3	2	3	3	3	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:7163801G>A	ENST00000360325.7	-	4	962	c.528C>T	c.(526-528)atC>atT	p.I176I	CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Silent_p.I176I|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	176					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CACCTCCCAGGATGACTAGGG	0.572																																						uc002gfm.4																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(526-528)atC>atT		Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.							41	36	38					17																	7163801		2203	4300	6503	SO:0001819	synonymous_variant	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7163801G>A	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.528C>T	17.37:g.7163801G>A						CLDN7_uc010cmc.3_3'UTR|CLDN7_uc002gfn.4_Silent_p.I176I	p.I176I	NM_001307	NP_001298	O95471	CLD7_HUMAN			3	1430	-			176					B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	c.528C>T	CCDS11096.1																																																																																				0.572	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		A	7163801	G	A	7163801	2	1	229	1	0	0	0	0	0	0	0	1	3490	1164	41	3		3	CLDN7	17	7163801	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		7163801	74031409	70	16106											
CDRT15	146822	broad.mit.edu	37	chr17	14139674	14139674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagtgctctctctggaggGgcctcttcccatgctggctc	3	12	11	15	0	3	0	0	0	3	0	7	1	5	1	3	4	2	3	3	4	0	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:14139674G>A	ENST00000420162.2	-	2	351	c.336C>T	c.(334-336)gcC>gcT	p.A112A	CDRT15_ENST00000431716.2_Silent_p.A46A	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	112										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCTCTGGAGGGGCCTCTTCCC	0.607																																						uc010vvu.2																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(334-336)gcC>gcT		Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.																																				SO:0001819	synonymous_variant	146822							g.chr17:14139674G>A	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.336C>T	17.37:g.14139674G>A							p.A112A	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	336	-			112					B2RUU5	Silent	SNP	ENST00000420162.2	37	c.336C>T	CCDS32569.1																																																																																				0.607	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		A	14139674	G	A	14139674	2	1	229	1	0	0	0	0	0	0	0	1	3175	1219	43	3		3	CDRT15	17	14139674	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	6975873	14139674	67055536	71	16107											
NF1	4763	broad.mit.edu	37	chr17	29508438	29508438	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaattgtgttttttccAgaaacagcatttaaatttaa	16	17	4	4	0	0	1	0	0	0	1	1	1	1	1	1	0	2	2	1	0	7	9			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:29508438A>G	ENST00000358273.4	+	6	969		c.e6-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTTTTTCCAGAAACAGCAT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e6-2		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							39	42	41					17																	29508438		2194	4289	6483	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508438A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.587-1A>G	17.37:g.29508438A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	p.E196_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	6	970	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	196					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.587_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442294	0.63067	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4068	0.74884	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532564	1.000000	0.71417	0.980000	0.43619	0.668000	0.39293	8.207000	0.89746	2.036000	0.60181	0.482000	0.46254	.		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	G	29508438	A	G	29508438	5	3	229	1	0	0	0	0	0	0	1	0	10356	202	7	4	607	4	NF1	17	29508438	Splice_Site	SNP	A	TCGA-32-2494-01A-01D-1353-08	15368764	29508438	51686772	72	16108											
TADA2A	6871	broad.mit.edu	37	chr17	35834667	35834667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgtctataggtagacGgagtgcaccacccttgaacc	9	11	9	12	1	2	2	0	1	2	1	3	3	2	3	3	2	2	2	3	2	4	5	rs369901141		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:35834667G>A	ENST00000394395.2	+	15	1252	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	TADA2A_ENST00000225396.6_Missense_Mutation_p.R360Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	360	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATAGGTAGACGGAGTGCACCA	0.453																																						uc002hnv.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1078-1080)cGg>cAg		Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56	54	55		1079,1079	5.8	1	17		55	0,8600		0,0,4300	no	missense,missense	TADA2A	NM_001488.3,NM_001166105.1	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	360/444,360/444	35834667	1,13005	2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35834667G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1079G>A	17.37:g.35834667G>A	ENSP00000377918:p.Arg360Gln					TADA2A_uc002hnt.3_Missense_Mutation_p.R360Q|TADA2A_uc002hnw.3_Missense_Mutation_p.R259Q	p.R360Q	NM_001488	NP_001479	O75478	TAD2A_HUMAN			14	1448	+			360			SWIRM.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1079G>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719897	0.89205	2.27E-4	0.0	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.44083	0.93;0.93	5.76	5.76	0.90799	Homeodomain-like (1);SWIRM (1);	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	N	0.24115	0.695	0.80722	D	1	B	0.30709	0.291	B	0.21151	0.033	T	0.04509	-1.0946	10	0.30854	T	0.27	-7.9594	19.9857	0.97347	0.0:0.0:1.0:0.0	.	360	O75478	TAD2A_HUMAN	Q	360;259;360	ENSP00000377918:R360Q;ENSP00000225396:R360Q	ENSP00000225396:R360Q	R	+	2	0	TADA2A	32908780	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.507000	0.97996	2.706000	0.92434	0.655000	0.94253	CGG		0.453	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		A	35834667	G	A	35834667	3	1	229	1	0	0	0	0	1	0	0	0	15507	1116	39	2	1228	2	TADA2A	17	35834667	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	6326229	35834667	45360543	73	16109											
KRT12	3859	broad.mit.edu	37	chr17	39021192	39021192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctctacgccctggcGcagggccagttcattctcat	5	10	11	15	3	3	0	2	0	2	0	5	0	3	0	3	3	1	2	3	3	1	3	rs368116028		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:39021192G>A	ENST00000251643.4	-	3	696	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	225	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R225C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ACGCCCTGGCGCAGGGCCAGT	0.552																																						uc002hvk.2																			2	Substitution - Missense(2)	p.R225C(4)	upper_aerodigestive_tract(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(673-675)Cgc>Tgc		Homo sapiens keratin 12 (KRT12), mRNA.		G	CYS/ARG	0,4406		0,0,2203	68	68	68		673	2.4	0.2	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT12	NM_000223.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	225/495	39021192	1,13005	2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021192G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.673C>T	17.37:g.39021192G>A	ENSP00000251643:p.Arg225Cys						p.R225C	NM_000223	NP_000214	Q99456	K1C12_HUMAN			2	697	-		Breast(137;0.000301)	225			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.673C>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841312	0.51057	0.0	1.16E-4	ENSG00000187242	ENST00000251643	D	0.91792	-2.91	5.96	2.42	0.29668	Filament (1);	0.548852	0.16745	N	0.201287	D	0.90442	0.7007	M	0.86864	2.845	0.51482	D	0.999921	B	0.27951	0.195	B	0.22386	0.039	D	0.87389	0.2362	10	0.72032	D	0.01	.	4.3176	0.11000	0.1513:0.1201:0.6051:0.1235	.	225	Q99456	K1C12_HUMAN	C	225	ENSP00000251643:R225C	ENSP00000251643:R225C	R	-	1	0	KRT12	36274718	0.279000	0.24239	0.228000	0.23943	0.263000	0.26337	2.768000	0.47645	0.702000	0.31825	0.655000	0.94253	CGC		0.552	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		A	39021192	G	A	39021192	3	1	229	1	0	0	0	0	1	0	0	0	8449	1087	38	1	835	1	KRT12	17	39021192	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3186525	39021192	42174018	74	16110											
TANC2	26115	broad.mit.edu	37	chr17	61466072	61466072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttatagcacagaaggtctttCcatggcactggcgtctttac	9	13	9	10	1	2	1	0	0	2	1	3	1	3	1	1	3	2	2	1	3	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:61466072C>G	ENST00000424789.2	+	14	2550	c.2546C>G	c.(2545-2547)tCc>tGc	p.S849C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S849C|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	849					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAAGGTCTTTCCATGGCACTG	0.323																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2545-2547)tCc>tGc		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.							85	74	77					17																	61466072		1845	4090	5935	SO:0001583	missense	26115						binding	g.chr17:61466072C>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2546C>G	17.37:g.61466072C>G	ENSP00000387593:p.Ser849Cys					TANC2_uc010wpe.2_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.4_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C	p.S849C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			13	2569	+			849					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.2546C>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816600	0.90790	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70516	-0.49;-0.49	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.977;0.99	D	0.85321	0.1084	10	0.66056	D	0.02	.	19.9434	0.97174	0.0:1.0:0.0:0.0	.	849;759;849	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	C	849	ENSP00000374171:S849C;ENSP00000387593:S849C	ENSP00000374171:S849C	S	+	2	0	TANC2	58819804	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.710000	0.92621	0.563000	0.77884	TCC		0.323	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			G	61466072	C	G	61466072	3	3	229	1	0	0	0	0	1	0	0	0	15542	855	30	5	2600	5	TANC2	17	61466072	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	22444880	61466072	19729138	75	16111											
SERPINB10	5273	broad.mit.edu	37	chr18	61585321	61585321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatatatggagagaaaacGtatgcatttcacaatgtaag	16	10	10	5	2	1	1	1	0	0	1	1	4	1	2	0	1	2	3	0	1	7	5	rs201911253	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr18:61585321G>A	ENST00000238508.3	+	4	416	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	119					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T119T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GAGAGAAAACGTATGCATTTC	0.348													g|||	2	0.000399361	0	0	5008	,	,		21320	0		0.002	False		,,,				2504	0					uc010xev.2																			1	Substitution - coding silent(1)	p.T119T(1)	kidney(1)	NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(355-357)acG>acA		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						102	93	96					18																	61585321		2202	4300	6502	SO:0001819	synonymous_variant	5273				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61585321G>A	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.357G>A	18.37:g.61585321G>A						SERPINB2_uc010xew.2_Silent_p.T119T	p.T119T	NM_005024	NP_005015	P05120	PAI2_HUMAN			3	447	+		Esophageal squamous(42;0.131)	134					Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	c.357G>A	CCDS11990.1																																																																																				0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		A	61585321	G	A	61585321	2	1	229	1	0	0	0	0	0	0	0	1	14097	1132	40	1		1	SERPINB10	18	61585321	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		61585321	16491927	76	16112											
GZMM	3004	broad.mit.edu	37	chr19	547333	547333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtgatcccccactcgCgcccgtacatggcctcactg	6	7	12	16	3	1	1	1	1	0	0	3	2	2	2	4	3	1	1	4	3	1	1	rs148691419	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:547333C>T	ENST00000264553.3	+	2	147	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	37	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCACTCGCGCCCGTACAT	0.662													C|||	2	0.000399361	0.0015	0	5008	,	,		12758	0		0	False		,,,				2504	0					uc002low.1																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(109-111)Cgc>Tgc		Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.		C	CYS/ARG	5,4401	8.1+/-20.4	0,5,2198	60	61	61		109	2.6	0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GZMM	NM_005317.2	180	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	37/258	547333	6,13000	2203	4300	6503	SO:0001583	missense	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547333C>T		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.109C>T	19.37:g.547333C>T	ENSP00000264553:p.Arg37Cys						p.R37C	NM_005317	NP_005308	P51124	GRAM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	154	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	37			Peptidase S1.			Missense_Mutation	SNP	ENST00000264553.3	37	c.109C>T	CCDS12031.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.69	2.908693	0.52439	0.001135	1.16E-4	ENSG00000197540	ENST00000264553	D	0.92965	-3.14	3.64	2.59	0.31030	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.264689	0.20005	U	0.101253	D	0.93880	0.8042	M	0.64997	1.995	0.19945	N	0.999941	D	0.89917	1.0	D	0.97110	1.0	D	0.85907	0.1438	10	0.72032	D	0.01	.	7.2935	0.26380	0.0:0.875:0.0:0.125	.	37	P51124	GRAM_HUMAN	C	37	ENSP00000264553:R37C	ENSP00000264553:R37C	R	+	1	0	GZMM	498333	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.276000	0.18716	0.874000	0.35823	0.555000	0.69702	CGC		0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		T	547333	C	T	547333	3	4	229	1	0	0	0	0	1	0	0	0	6919	768	27	1	115	1	GZMM	19	547333	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		547333	58581650	77	16113											
FSD1	79187	broad.mit.edu	37	chr19	4323057	4323057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcaaggcgttcggcgtgGgcgtggcctaccgcagcctg	6	6	16	13	5	0	0	0	0	0	0	1	0	0	0	3	4	3	3	3	4	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:4323057G>A	ENST00000221856.6	+	11	1261	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	FSD1_ENST00000597590.1_Missense_Mutation_p.G372S|STAP2_ENST00000597593.1_5'Flank	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCGGCGTGGGCGTGGCCTA	0.687																																						uc002lzy.2																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1114-1116)Ggc>Agc		Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.							31	30	30					19																	4323057		2203	4297	6500	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4323057G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1114G>A	19.37:g.4323057G>A	ENSP00000221856:p.Gly372Ser					FSD1_uc002maa.2_Missense_Mutation_p.G185S	p.G372S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1267	+			372			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.1114G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451148	0.96205	.	.	ENSG00000105255	ENST00000221856	D	0.99194	-5.54	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	L	0.50333	1.59	0.58432	D	0.999998	D	0.61080	0.989	D	0.69142	0.962	D	0.99821	1.1047	10	0.87932	D	0	.	14.8304	0.70142	0.0:0.0:1.0:0.0	.	372	Q9BTV5	FSD1_HUMAN	S	372	ENSP00000221856:G372S	ENSP00000221856:G372S	G	+	1	0	FSD1	4274057	1.000000	0.71417	0.978000	0.43139	0.873000	0.50193	9.670000	0.98625	2.097000	0.63578	0.485000	0.47835	GGC		0.687	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		A	4323057	G	A	4323057	3	1	229	1	0	0	0	0	1	0	0	0	6070	1232	43	3	1156	3	FSD1	19	4323057	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3775724	4323057	54805926	78	16114											
KPTN	11133	broad.mit.edu	37	chr19	47979804	47979804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctgcaggatgtgcacGcccttcagggagaccacggc	9	6	13	13	2	1	1	1	0	0	1	1	4	1	2	3	3	3	2	3	3	1	2	rs562237338		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:47979804G>A	ENST00000338134.3	-	11	1274	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	KPTN_ENST00000536339.1_Silent_p.G149G	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	389					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGATGTGCACGCCCTTCAGGG	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		14283	0		0	False		,,,				2504	0					uc002pgy.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(1165-1167)ggC>ggT		Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.							24	26	26					19																	47979804		2048	4190	6238	SO:0001819	synonymous_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47979804G>A	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1167C>T	19.37:g.47979804G>A						KPTN_uc010xys.2_Non-coding_Transcript	p.G389G	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	10	1271	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	389					B3KN86|B4DQ76|Q96GT1	Silent	SNP	ENST00000338134.3	37	c.1167C>T	CCDS42583.1																																																																																				0.667	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			A	47979804	G	A	47979804	2	1	229	1	0	0	0	0	0	0	0	1	8437	1074	38	1		1	KPTN	19	47979804	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	43656747	47979804	11149179	79	16115											
TNNT1	7138	broad.mit.edu	37	chr19	55645562	55645562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatggaggcagccaggCagaccgggccctaggcccag	8	4	16	13	1	0	2	0	1	0	1	0	3	0	3	4	5	1	2	4	5	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:55645562C>G	ENST00000588981.1	-	12	826	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000536926.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	208					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.A208P(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGCAGCCAGGCAGACCGGGCC	0.622																																						uc002qjb.4																			1	Substitution - Missense(1)	p.A208P(2)|p.S207C(1)|p.S207S(1)	kidney(1)	endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(622-624)Gcc>Ccc		Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.							18	18	18					19																	55645562		2196	4292	6488	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55645562C>G		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.622G>C	19.37:g.55645562C>G	ENSP00000467176:p.Ala208Pro					TNNT1_uc002qjc.4_Intron|TNNT1_uc002qje.4_Intron|TNNT1_uc002qjd.4_Intron	p.A208P	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	11	711	-			208					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.622G>C	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	c	9.212	1.031190	0.19590	.	.	ENSG00000105048	ENST00000291901	.	.	.	2.71	0.318	0.15867	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	8	0.28530	T	0.3	.	4.8648	0.13602	0.2474:0.5112:0.2414:0.0	.	208	P13805	TNNT1_HUMAN	P	208	.	ENSP00000291901:A208P	A	-	1	0	TNNT1	60337374	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	-0.376000	0.07465	0.164000	0.19529	0.443000	0.29094	GCC		0.622	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		G	55645562	C	G	55645562	3	3	229	1	0	0	0	0	1	0	0	0	16327	710	25	5	226	5	TNNT1	19	55645562	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	7665758	55645562	3483421	80	16116											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874370	31874370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgaagcctccgtagccGtagcccaggcctccatagta	9	8	9	15	3	1	0	1	0	0	0	4	1	3	0	6	1	3	3	6	1	5	4	rs367860556		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31874370G>A	ENST00000334151.2	-	1	65	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	13						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572																																						uc011ada.2																			0				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						c.(37-39)taC>taT		Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	141	117	125		39	-7.8	0	21		125	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	KRTAP19-5	NM_181611.1		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		13/73	31874370	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	337972					intermediate filament	protein binding	g.chr21:31874370G>A	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.39C>T	21.37:g.31874370G>A							p.Y13Y	NM_181611	NP_853642	Q3LI72	KR195_HUMAN			0	39	-			13					A4IF22	Silent	SNP	ENST00000334151.2	37	c.39C>T	CCDS13597.1																																																																																				0.572	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			A	31874370	G	A	31874370	2	1	229	1	0	0	0	0	0	0	0	1	8532	1140	40	1		1	KRTAP19-5	21	31874370	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		31874370	16255525	81	16117											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986219	31986219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccgtagtagctgccaCacatggtgttggttgtggag	7	13	14	7	1	0	0	0	0	0	0	1	1	1	1	2	3	2	6	2	3	2	5	rs146113466		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31986219C>T	ENST00000329122.2	-	1	30	c.5G>A	c.(4-6)tGt>tAt	p.C2Y	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	2						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						GTAGCTGCCACACATGGTGTT	0.547																																						uc002yop.3																			0				breast(2)|endometrium(1)|lung(7)	10						c.(4-6)tGt>tAt		Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.		C	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	186	180	182		5	4.7	1	21	dbSNP_134	182	0,8600		0,0,4300	no	missense	KRTAP6-1	NM_181602.1	194	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2/72	31986219	1,13005	2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986219C>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.5G>A	21.37:g.31986219C>T	ENSP00000332690:p.Cys2Tyr					KRTAP20-1_uc011ade.2_5'Flank	p.C2Y	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			0	5	-			2						Missense_Mutation	SNP	ENST00000329122.2	37	c.5G>A	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324842	0.24080	2.27E-4	0.0	ENSG00000184724	ENST00000329122	T	0.27557	1.66	4.7	4.7	0.59300	.	0.470812	0.16059	U	0.231572	T	0.27063	0.0663	.	.	.	0.27908	N	0.938738	B	0.27229	0.172	B	0.33392	0.163	T	0.14587	-1.0467	9	0.87932	D	0	.	9.0613	0.36436	0.0:0.9041:0.0:0.0959	.	2	Q3LI64	KRA61_HUMAN	Y	2	ENSP00000332690:C2Y	ENSP00000332690:C2Y	C	-	2	0	KRTAP6-1	30908090	0.997000	0.39634	1.000000	0.80357	0.876000	0.50452	0.556000	0.23438	2.897000	0.99335	0.643000	0.83706	TGT		0.547	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		T	31986219	C	T	31986219	3	4	229	1	0	0	0	0	1	0	0	0	8569	478	17	3	214	3	KRTAP6-1	21	31986219	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	111849	31986219	16143676	82	16118											
SBF1	6305	broad.mit.edu	37	chr22	50886843	50886843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgacggtggtggggtgCggtggacacaaggagggagc	8	4	22	7	4	0	0	0	0	0	0	0	5	0	3	0	8	3	0	0	8	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr22:50886843C>T	ENST00000390679.3	-	37	5288	c.5104G>A	c.(5104-5106)Gca>Aca	p.A1702T	SBF1_ENST00000348911.6_Missense_Mutation_p.A1703T|SBF1_ENST00000380817.3_Missense_Mutation_p.A1728T			O95248	MTMR5_HUMAN	SET binding factor 1	1702					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGTGGGGTGCGGTGGACACA	0.657																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(5182-5184)Gca>Aca		Homo sapiens SET binding factor 1 (SBF1), mRNA.							30	37	35					22																	50886843		2068	4182	6250	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50886843C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5104G>A	22.37:g.50886843C>T	ENSP00000375097:p.Ala1702Thr					SBF1_uc003ble.3_Missense_Mutation_p.A192T|SBF1_uc011arx.2_Missense_Mutation_p.A1366T	p.A1728T	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	37	5377	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1702					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.5182G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.230|6.230	0.410564|0.410564	0.11812|0.11812	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	D;D;D|.	0.86297|.	-2.09;-2.1;-2.1|.	3.93|3.93	2.85|2.85	0.33270|0.33270	.|.	0.349552|.	0.25968|.	N|.	0.027143|.	T|T	0.18593|0.18593	0.0446|0.0446	N|N	0.08118|0.08118	0|0	0.23132|0.23132	N|N	0.998243|0.998243	B;B;B|.	0.23650|.	0.089;0.052;0.016|.	B;B;B|.	0.18871|.	0.018;0.023;0.009|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.08837|.	T|.	0.75|.	.|.	8.6465|8.6465	0.34009|0.34009	0.1499:0.631:0.2192:0.0|0.1499:0.631:0.2192:0.0	.|.	1702;1728;249|.	O95248;O95248-4;A6PVG7|.	MTMR5_HUMAN;.;.|.	T|H	1728;1703;1738;1702|249	ENSP00000370196:A1728T;ENSP00000252027:A1703T;ENSP00000375097:A1702T|.	ENSP00000336522:A1738T|.	A|R	-|-	1|2	0|0	SBF1|SBF1	49233709|49233709	0.992000|0.992000	0.36948|0.36948	0.822000|0.822000	0.32727|0.32727	0.265000|0.265000	0.26407|0.26407	2.766000|2.766000	0.47629|0.47629	0.940000|0.940000	0.37473|0.37473	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				T	50886843	C	T	50886843	3	4	229	1	0	0	0	0	1	0	0	0	13858	768	27	1	515	1	SBF1	22	50886843	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		50886843	417723	83	16119											
CCNB3	85417	broad.mit.edu	37	chrX	50053319	50053319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggctttgcaggagaaaaGcaccatggaagaagagtccc	13	7	13	8	0	0	3	0	0	0	3	1	5	1	4	2	3	2	4	2	3	4	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:50053319G>T	ENST00000376042.1	+	6	2448	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	CCNB3_ENST00000276014.7_Missense_Mutation_p.S717I|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	717					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S717I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGGAGAAAAGCACCATGGAA	0.453																																						uc004dox.4																			2	Substitution - Missense(2)	p.S717I(3)	prostate(2)	breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2149-2151)aGc>aTc		Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.							37	35	36					X																	50053319		2202	4300	6502	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053319G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2150G>T	X.37:g.50053319G>T	ENSP00000365210:p.Ser717Ile					CCNB3_uc004doy.3_Missense_Mutation_p.S717I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	p.S717I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			5	2448	+	Ovarian(276;0.236)		717					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2150G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601250	0.13939	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35048	1.33;1.33	4.28	-3.41	0.04839	.	681.600000	0.00674	N	0.000649	T	0.23649	0.0572	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.03852	-1.0998	9	.	.	.	.	0.2533	0.00208	0.2825:0.2801:0.188:0.2494	.	717	Q8WWL7	CCNB3_HUMAN	I	717	ENSP00000365210:S717I;ENSP00000276014:S717I	.	S	+	2	0	CCNB3	50070059	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.015000	0.13355	-1.057000	0.03201	-0.191000	0.12829	AGC		0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			T	50053319	G	T	50053319	3	4	229	1	0	0	0	0	1	0	0	0	2914	971	34	5	2164	5	CCNB3	23	50053319	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		50053319	105217241	84	16120											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721739	64721739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaccaaccccagcgttcGgtggctgatgagctccgcat	8	7	11	15	3	0	2	0	2	0	0	2	2	1	2	5	2	4	4	5	2	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:64721739G>A	ENST00000338957.4	+	5	1228	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S	ZC3H12B_ENST00000423889.3_Silent_p.S376S	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	387							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCAGCGTTCGGTGGCTGATG	0.527																																						uc010nko.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1159-1161)tcG>tcA		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							28	28	28					X																	64721739		1950	4130	6080	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721739G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1161G>A	X.37:g.64721739G>A							p.S387S	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1228	+			376					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1161G>A	CCDS48131.2																																																																																				0.527	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		A	64721739	G	A	64721739	2	1	229	1	0	0	0	0	0	0	0	1	17559	1103	39	2		2	ZC3H12B	23	64721739	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	14668420	64721739	90548821	85	16121											
AWAT2	158835	broad.mit.edu	37	chrX	69263788	69263788	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgaccttgagagggaaAtaatcgctgtagtgtttcca	11	12	10	8	1	0	2	0	2	0	1	2	4	1	3	2	1	1	3	2	1	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:69263788A>G	ENST00000276101.3	-	3	260	c.255T>C	c.(253-255)taT>taC	p.Y85Y		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	85					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGAGAGGGAAATAATCGCTGT	0.602																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(253-255)taT>taC		Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.							44	35	38					X																	69263788		2203	4300	6503	SO:0001819	synonymous_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69263788A>G	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.255T>C	X.37:g.69263788A>G							p.Y85Y	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			2	261	-			85					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.255T>C	CCDS35320.1																																																																																				0.602	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		G	69263788	A	G	69263788	2	3	229	1	0	0	0	0	0	0	0	1	1235	108	4	4		4	AWAT2	23	69263788	Silent	SNP	A	TCGA-32-2494-01A-01D-1353-08	4542049	69263788	86006772	86	16122											
NONO	4841	broad.mit.edu	37	chrX	70514099	70514099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccgaaccctagcggagaTtgccaaagtggagctggaca	13	5	12	11	2	0	1	0	0	0	1	0	5	0	3	3	3	5	1	3	3	4	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70514099T>C	ENST00000276079.8	+	5	576	c.371T>C	c.(370-372)aTt>aCt	p.I124T	NONO_ENST00000373841.1_Missense_Mutation_p.I124T|NONO_ENST00000373856.3_Missense_Mutation_p.I124T|NONO_ENST00000535149.1_Missense_Mutation_p.I35T|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	124	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTAGCGGAGATTGCCAAAGTG	0.488			T	TFE3	papillary renal cancer																																	uc004dzo.3				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(370-372)aTt>aCt		Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.							86	68	74					X																	70514099		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514099T>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.371T>C	X.37:g.70514099T>C	ENSP00000276079:p.Ile124Thr					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.I124T|NONO_uc004dzp.3_Missense_Mutation_p.I124T|NONO_uc011mpv.2_Missense_Mutation_p.I35T|NONO_uc004dzq.3_5'UTR	p.I124T	NM_001145408	NP_001138882	Q15233	NONO_HUMAN			5	1081	+	Renal(35;0.156)		124			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.371T>C	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	t	16.24	3.066049	0.55539	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000420903;ENST00000413858;ENST00000454976	T;T;T;T;T;T;T	0.40756	2.41;2.41;2.41;2.41;1.02;2.41;2.41	4.66	4.66	0.58398	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	N	0.01631	-0.79	0.80722	D	1	B	0.23540	0.087	B	0.37989	0.262	T	0.27739	-1.0065	10	0.45353	T	0.12	-9.8184	13.4244	0.61018	0.0:0.0:0.0:1.0	.	124	Q15233	NONO_HUMAN	T	35;124;124;124;107;124;124	ENSP00000441364:I35T;ENSP00000276079:I124T;ENSP00000362963:I124T;ENSP00000362947:I124T;ENSP00000410299:I107T;ENSP00000413350:I124T;ENSP00000406673:I124T	ENSP00000276079:I124T	I	+	2	0	NONO	70430824	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.740000	0.84986	1.741000	0.51731	0.430000	0.28490	ATT		0.488	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		C	70514099	T	C	70514099	3	2	229	1	0	0	0	0	1	0	0	0	10534	1493	52	4	381	4	NONO	23	70514099	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	1250311	70514099	84756461	87	16123											
TAF1	6872	broad.mit.edu	37	chrX	70586172	70586172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatttccggtctatgggacCcggctgcgatttgctgctgc	4	14	12	11	3	1	0	0	0	1	0	2	2	2	1	2	3	4	3	2	3	2	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70586172C>T	ENST00000373790.4	+	1	59	c.8C>T	c.(7-9)cCc>cTc	p.P3L	TAF1_ENST00000276072.3_Missense_Mutation_p.P3L|TAF1_ENST00000423759.1_Missense_Mutation_p.P3L|TAF1_ENST00000449580.1_Missense_Mutation_p.P3L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	3	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTATGGGACCCGGCTGCGAT	0.562																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(7-9)cCc>cTc		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							67	56	60					X																	70586172		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70586172C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.8C>T	X.37:g.70586172C>T	ENSP00000362895:p.Pro3Leu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P3L	p.P3L	NM_138923	NP_620278	P21675	TAF1_HUMAN			0	59	+	Renal(35;0.156)	all_lung(315;0.000321)	3			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.8C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.200810	0.38905	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10192	2.9;2.97;3.07;3.02	4.83	-1.43	0.08884	.	0.805255	0.10173	N	0.706843	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40627	-0.9553	10	0.87932	D	0	.	0.5411	0.00645	0.2756:0.3303:0.1327:0.2615	.	3;3	P21675;P21675-2	TAF1_HUMAN;.	L	3	ENSP00000362895:P3L;ENSP00000389000:P3L;ENSP00000406549:P3L;ENSP00000276072:P3L	ENSP00000276072:P3L	P	+	2	0	TAF1	70502897	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.188000	0.09642	-0.619000	0.05648	0.399000	0.26434	CCC		0.562	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70586172	C	T	70586172	3	4	229	1	0	0	0	0	1	0	0	0	15510	623	22	3	10	3	TAF1	23	70586172	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	72073	70586172	84684388	88	16124											
ACTRT1	139741	broad.mit.edu	37	chrX	127185764	127185764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcatagagcgctgccaccGcatgattagacaggtagaaa	14	6	12	9	2	0	4	0	1	0	3	0	4	0	4	2	2	2	4	2	2	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:127185764G>A	ENST00000371124.3	-	1	618	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	141						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522																																						uc004eum.3																			1	Substitution - Missense(1)	p.A141V(2)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(421-423)gCg>gTg		Homo sapiens actin-related protein T1 (ACTRT1), mRNA.							192	176	182					X																	127185764		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185764G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.422C>T	X.37:g.127185764G>A	ENSP00000360165:p.Ala141Val						p.A141V	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			0	619	-			141					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.422C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148347	0.37923	.	.	ENSG00000123165	ENST00000371124	D	0.97811	-4.55	3.75	1.94	0.25998	.	0.094216	0.44097	D	0.000492	D	0.98673	0.9555	H	0.94462	3.54	0.43207	D	0.995069	D	0.89917	1.0	D	0.97110	1.0	D	0.97562	1.0099	10	0.87932	D	0	.	5.6715	0.17725	0.113:0.0:0.6924:0.1946	.	141	Q8TDG2	ACTT1_HUMAN	V	141	ENSP00000360165:A141V	ENSP00000360165:A141V	A	-	2	0	ACTRT1	127013445	1.000000	0.71417	0.020000	0.16555	0.085000	0.17905	3.934000	0.56553	0.390000	0.25115	0.538000	0.68166	GCG		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		A	127185764	G	A	127185764	3	1	229	1	0	0	0	0	1	0	0	0	218	1087	38	1	712	1	ACTRT1	23	127185764	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	56599592	127185764	28084796	89	16125											
SLC25A14	9016	broad.mit.edu	37	chrX	129492634	129492634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaatgcaggctcaaggAagcttgttccaagggagcat	12	9	12	8	1	1	0	1	0	0	0	3	3	2	2	1	3	3	5	1	3	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:129492634A>G	ENST00000218197.5	+	6	746	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SLC25A14_ENST00000339231.3_Silent_p.G170G|SLC25A14_ENST00000543953.1_Silent_p.G138G|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Silent_p.G173G|SLC25A14_ENST00000361980.5_Silent_p.G170G	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	173					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGGCTCAAGGAAGCTTGTTCC	0.373																																						uc004evr.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(508-510)ggA>ggG		Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.							114	103	106					X																	129492634		2203	4300	6503	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129492634A>G	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.519A>G	X.37:g.129492634A>G						SLC25A14_uc010nrg.3_Silent_p.G170G|SLC25A14_uc011mut.2_Missense_Mutation_p.K110E|SLC25A14_uc011muu.2_Silent_p.G173G|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G	p.G170G	NM_022810	NP_073721	O95258	UCP5_HUMAN			5	682	+			173					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.510A>G	CCDS14623.1																																																																																				0.373	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		G	129492634	A	G	129492634	2	3	229	1	0	0	0	0	0	0	0	1	14476	233	9	4		4	SLC25A14	23	129492634	Silent	SNP	A	TCGA-32-2494-01A-01D-1353-08	2306870	129492634	25777926	90	16126											
GPR112	139378	broad.mit.edu	37	chrX	135433699	135433699	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgaatttacggaaaattCggtaaaataatcttttgcat	17	14	6	4	2	1	1	0	1	1	0	2	2	1	2	0	2	2	2	0	2	8	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:135433699C>T	ENST00000394143.1	+	7	7112	c.6821C>T	c.(6820-6822)tCg>tTg	p.S2274L	GPR112_ENST00000394141.1_Splice_Site_p.S2069L|GPR112_ENST00000412101.1_Splice_Site_p.S2069L|GPR112_ENST00000370652.1_Splice_Site_p.S2274L|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACGGAAAATTCGGTAAAATAA	0.269																																						uc004ezu.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.e7+1		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							45	43	44					X																	135433699		2202	4294	6496	SO:0001630	splice_region_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135433699C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6822+1C>T	X.37:g.135433699C>T						GPR112_uc010nsb.1_Splice_Site_p.S2069_splice|GPR112_uc010nsc.1_Intron	p.S2274_splice	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			7	7113	+	Acute lymphoblastic leukemia(192;0.000127)		2274					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6822_splice	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	19.70	3.877374	0.72294	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.30448	1.56;1.56;1.53;1.53	4.33	3.45	0.39498	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05354	-1.0890	9	0.62326	D	0.03	.	7.0192	0.24904	0.0:0.1866:0.6161:0.1972	.	2069;2274	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2274;2274;2069;2069	ENSP00000377699:S2274L;ENSP00000359686:S2274L;ENSP00000416526:S2069L;ENSP00000377697:S2069L	ENSP00000359686:S2274L	S	+	2	0	GPR112	135261365	1.000000	0.71417	0.811000	0.32455	0.818000	0.46254	1.848000	0.39309	0.255000	0.21593	-0.190000	0.12839	TCG		0.269	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		Missense_Mutation	T	135433699	C	T	135433699	5	4	229	1	0	0	0	0	0	0	1	0	6629	898	31	2	6835	2	GPR112	23	135433699	Splice_Site	SNP	C	TCGA-32-2494-01A-01D-1353-08	5941065	135433699	19836861	91	16127											
ATP11C	286410	broad.mit.edu	37	chrX	138879436	138879436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagtagtgcatactgcagCtttggtcagtaagataaata	14	12	10	5	0	1	2	1	0	0	2	1	2	1	2	0	1	4	5	0	1	7	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:138879436C>A	ENST00000327569.3	-	11	1014	c.916G>T	c.(916-918)Gct>Tct	p.A306S	ATP11C_ENST00000370543.1_Missense_Mutation_p.A306S|ATP11C_ENST00000370557.1_Missense_Mutation_p.A303S|ATP11C_ENST00000361648.2_Missense_Mutation_p.A306S|ATP11C_ENST00000359686.2_Missense_Mutation_p.A306S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	306					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATACTGCAGCTTTGGTCAGT	0.343																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(916-918)Gct>Tct		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							110	103	106					X																	138879436		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138879436C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.916G>T	X.37:g.138879436C>A	ENSP00000332756:p.Ala306Ser					ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.A306S	p.A306S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			10	1015	-	Acute lymphoblastic leukemia(192;0.000127)		306					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.916G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305093	0.81247	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.76494	0.997;0.999	D;D	0.72338	0.961;0.977	D	0.88682	0.3203	10	0.09590	T	0.72	.	17.0524	0.86523	0.0:1.0:0.0:0.0	.	306;306	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	S	303;306;306;306;306	ENSP00000359588:A303S;ENSP00000355165:A306S;ENSP00000332756:A306S;ENSP00000359574:A306S;ENSP00000352715:A306S	ENSP00000332756:A306S	A	-	1	0	ATP11C	138707102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.322000	0.78497	0.600000	0.82982	GCT		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138879436	C	A	138879436	3	1	229	1	0	0	0	0	1	0	0	0	1121	797	28	5	2625	5	ATP11C	23	138879436	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	3445737	138879436	16391124	92	16128											
TKTL1	8277	broad.mit.edu	37	chrX	153543586	153543586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacgcgaacaacagagtcGttgtgctggatggtgacacc	10	8	13	10	3	0	2	0	1	0	1	1	4	0	3	1	2	4	3	1	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:153543586G>A	ENST00000369915.3	+	7	1117	c.928G>A	c.(928-930)Gtt>Att	p.V310I	TKTL1_ENST00000369912.2_Missense_Mutation_p.V254I|TKTL1_ENST00000217905.7_Missense_Mutation_p.V50I	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	310					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACAGAGTCGTTGTGCTGGA	0.483													G|||	1	0.000264901	8e-04	0	3775	,	,		14049	0		0	False		,,,				2504	0					uc004fkg.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(928-930)Gtt>Att		Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.							195	153	167					X																	153543586		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153543586G>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.928G>A	X.37:g.153543586G>A	ENSP00000358931:p.Val310Ile					TKTL1_uc011mzl.2_Missense_Mutation_p.V304I|TKTL1_uc011mzm.2_Missense_Mutation_p.V106I|TKTL1_uc004fkh.3_Missense_Mutation_p.V254I	p.V310I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN			6	1114	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		310					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.928G>A	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.247403	0.00271	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.92048	-2.96;-2.96;-2.96	4.1	-8.2	0.01045	Transketolase-like, pyrimidine-binding domain (2);	0.343327	0.30277	N	0.009994	T	0.81128	0.4758	N	0.20357	0.565	0.09310	N	1	B;B;B	0.17268	0.021;0.004;0.004	B;B;B	0.24006	0.05;0.012;0.012	T	0.60480	-0.7255	10	0.12103	T	0.63	-4.2786	15.1071	0.72329	0.3406:0.0:0.6594:0.0	.	50;304;310	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	I	310;254;50;254	ENSP00000358931:V310I;ENSP00000217905:V50I;ENSP00000358928:V254I	ENSP00000217905:V50I	V	+	1	0	TKTL1	153196780	0.051000	0.20477	0.004000	0.12327	0.012000	0.07955	0.064000	0.14437	-2.530000	0.00492	-1.915000	0.00519	GTT		0.483	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		A	153543586	G	A	153543586	3	1	229	1	0	0	0	0	1	0	0	0	15932	1145	40	1	954	1	TKTL1	23	153543586	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	14664150	153543586	1726974	93	16129											
GNB1	2782	broad.mit.edu	37	chr1	1720568	1720568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaggaggcgcccgctCttggagaaggagacagaggt	11	4	18	8	2	1	3	0	0	1	3	1	7	1	5	1	6	0	2	1	6	2	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:1720568C>A	ENST00000378609.4	-	10	1171	c.840G>T	c.(838-840)aaG>aaT	p.K280N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	280					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCGCCCGCTCTTGGAGAAGG	0.587											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aif.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(838-840)aaG>aaT		Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.							101	94	97					1																	1720568		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720568C>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.840G>T	1.37:g.1720568C>A	ENSP00000367872:p.Lys280Asn		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	GNB1_uc009vky.3_Missense_Mutation_p.K180N	p.K280N	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	1203	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	280					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.840G>T	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342034|4.342034	0.81911|0.81911	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.60040|.	0.22|.	5.63|5.63	5.63|5.63	0.86233|0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	B|.	0.14012|.	0.009|.	B|.	0.31869|.	0.137|.	T|T	0.53781|0.53781	-0.8390|-0.8390	10|5	0.27082|.	T|.	0.32|.	-16.8209|-16.8209	18.6641|18.6641	0.91483|0.91483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280|.	P62873|.	GBB1_HUMAN|.	N|I	280;180;280|138	ENSP00000367872:K280N|.	ENSP00000367869:K280N|.	K|R	-|-	3|2	2|0	GNB1|GNB1	1710428|1710428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.620000|1.620000	0.36976|0.36976	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.587	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		A	1720568	C	A	1720568	3	1	230	1	0	0	0	0	1	0	0	0	6515	912	32	5	190	5	GNB1	1	1720568	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		1720568	247530053	1	16130											
CHD5	26038	broad.mit.edu	37	chr1	6206730	6206730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggcactcacctgtaGctccttcacccaggagcaat	8	8	8	17	1	2	0	2	0	0	0	4	1	4	1	4	2	2	4	4	2	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:6206730G>C	ENST00000262450.3	-	10	1684	c.1585C>G	c.(1585-1587)Cta>Gta	p.L529V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCACCTGTAGCTCCTTCACC	0.647																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1585-1587)Cta>Gta		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							44	45	45					1																	6206730		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206730G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1585C>G	1.37:g.6206730G>C	ENSP00000262450:p.Leu529Val					CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	p.L529V	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	9	1696	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	529			Chromo 1.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1585C>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099978	0.37048	.	.	ENSG00000116254	ENST00000262450;ENST00000378006	T	0.71579	-0.58	4.67	2.78	0.32641	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.56097	D	0.000036	T	0.80281	0.4594	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.75909	-0.3151	10	0.32370	T	0.25	-9.1343	8.1247	0.30992	0.248:0.0:0.752:0.0	.	529	Q8TDI0	CHD5_HUMAN	V	529;45	ENSP00000262450:L529V	ENSP00000262450:L529V	L	-	1	2	CHD5	6129317	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	2.890000	0.48609	0.389000	0.25086	0.563000	0.77884	CTA		0.647	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6206730	G	C	6206730	3	2	230	1	0	0	0	0	1	0	0	0	3328	962	34	5	4407	5	CHD5	1	6206730	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4486162	6206730	243043891	2	16131											
CLCNKB	1188	broad.mit.edu	37	chr1	16377396	16377396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagcagcatctggactcGctgttcgacaaccactcctg	10	9	9	13	2	1	1	0	1	1	0	4	3	2	2	2	1	3	4	2	1	2	1	rs140705060		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:16377396G>A	ENST00000375679.4	+	12	1191	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	CLCNKB_ENST00000375667.3_Silent_p.S191S	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	360					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGGACTCGCTGTTCGACA	0.672																																						uc001axx.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1078-1080)tcG>tcA		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)	G	,	0,4406		0,0,2203	40	43	42		1080,573	-9.5	0	1	dbSNP_134	42	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	CLCNKB	NM_000085.3,NM_001165945.1	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	360/688,191/519	16377396	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16377396G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1080G>A	1.37:g.16377396G>A						CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.S191S|CLCNKA_uc001axy.4_Silent_p.S191S	p.S360S	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1216	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	360					B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1080G>A	CCDS168.1																																																																																				0.672	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		A	16377396	G	A	16377396	2	1	230	1	0	0	0	0	0	0	0	1	3470	1074	38	1		1	CLCNKB	1	16377396	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	10170666	16377396	232873225	3	16132											
PTAFR	5724	broad.mit.edu	37	chr1	28477001	28477001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggcacgctgcccttctCgtaatgctcaaagcagcgag	9	8	11	13	3	2	0	1	0	1	0	3	2	2	0	1	1	4	5	1	1	2	2	rs184182216		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:28477001C>T	ENST00000373857.3	-	2	1166	c.532G>A	c.(532-534)Gag>Aag	p.E178K	PTAFR_ENST00000539896.1_Missense_Mutation_p.E178K|PTAFR_ENST00000305392.3_Missense_Mutation_p.E178K	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	178					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.E178K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTTCTCGTAATGCTCA	0.542													C|||	1	0.000199681	0	0	5008	,	,		24795	0.001		0	False		,,,				2504	0					uc009vte.3																			1	Substitution - Missense(1)	p.E178K(2)	lung(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(532-534)Gag>Aag		Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.							115	88	97					1																	28477001		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477001C>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.532G>A	1.37:g.28477001C>T	ENSP00000362965:p.Glu178Lys					PTAFR_uc021ojz.1_Missense_Mutation_p.E178K|PTAFR_uc001bpl.3_Missense_Mutation_p.E178K|PTAFR_uc001bpm.4_Missense_Mutation_p.E178K|PTAFR_uc021oka.1_Missense_Mutation_p.E178K	p.E178K	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	867	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	178					A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.532G>A	CCDS318.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.11	3.763936	0.69878	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.37752	1.18;1.18;1.18	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.427833	0.26991	N	0.021461	T	0.22898	0.0553	N	0.17474	0.49	0.41362	D	0.987438	P	0.51933	0.949	B	0.38755	0.281	T	0.04579	-1.0941	10	0.40728	T	0.16	.	14.5079	0.67764	0.0:0.8534:0.1466:0.0	.	178	P25105	PTAFR_HUMAN	K	178	ENSP00000362965:E178K;ENSP00000442658:E178K;ENSP00000301974:E178K	ENSP00000301974:E178K	E	-	1	0	PTAFR	28349588	0.964000	0.33143	0.985000	0.45067	0.960000	0.62799	1.802000	0.38853	2.467000	0.83353	0.563000	0.77884	GAG		0.542	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		T	28477001	C	T	28477001	3	4	230	1	0	0	0	0	1	0	0	0	12723	893	31	2	500	2	PTAFR	1	28477001	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	12099605	28477001	220773620	4	16133											
SLC44A5	204962	broad.mit.edu	37	chr1	75708695	75708695	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcacttggagacacagAtctgtgaacgaacaaagtga	14	7	12	8	1	1	4	0	2	1	2	1	6	1	4	0	2	2	1	0	2	3	1	rs148670291		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:75708695A>G	ENST00000370855.5	-	8	460	c.347T>C	c.(346-348)aTc>aCc	p.I116T	SLC44A5_ENST00000370859.3_Splice_Site_p.I116T|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	116					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGAGACACAGATCTGTGAACG	0.383																																						uc010oqz.1																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e7-1		Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.		A	THR/ILE,THR/ILE	1,4405		0,1,2202	75	78	77		347,347	5.1	1	1	dbSNP_134	77	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	SLC44A5	NM_001130058.1,NM_152697.4	89,89	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	116/718,116/720	75708695	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75708695A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.346-1T>C	1.37:g.75708695A>G						SLC44A5_uc001dgt.2_Splice_Site_p.I116_splice|SLC44A5_uc001dgs.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgr.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgu.3_Splice_Site_p.I116_splice|SLC44A5_uc010ora.2_Splice_Site_p.I110_splice|SLC44A5_uc010orb.2_Splice_Site	p.I155_splice	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN			7	529	-			116					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.463_splice	CCDS667.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945398	0.73672	2.27E-4	0.0	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.17213	2.29;2.29	5.07	5.07	0.68467	.	0.119522	0.56097	D	0.000026	T	0.28532	0.0706	M	0.83774	2.66	0.80722	D	1	P;P;P;D;D	0.57571	0.743;0.628;0.892;0.98;0.98	P;B;B;P;P	0.57009	0.517;0.297;0.412;0.811;0.811	T	0.06935	-1.0799	10	0.42905	T	0.14	-10.3515	14.1354	0.65284	1.0:0.0:0.0:0.0	.	110;155;116;116;155	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	116;155;116;109	ENSP00000359896:I116T;ENSP00000359892:I116T	ENSP00000359892:I116T	I	-	2	0	SLC44A5	75481283	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.277000	0.78572	2.028000	0.59812	0.533000	0.62120	ATC		0.383	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Missense_Mutation	G	75708695	A	G	75708695	5	3	230	1	0	0	0	0	0	0	1	0	14639	347	12	4	1991	4	SLC44A5	1	75708695	Splice_Site	SNP	A	TCGA-32-2495-01A-01D-1353-08	47231694	75708695	173541926	5	16134											
LRRC8C	84230	broad.mit.edu	37	chr1	90179098	90179098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaactgtccttttgctaTctgtgctttgttagtatcta	8	19	6	8	0	3	0	1	0	2	0	4	0	4	0	1	0	3	4	1	0	6	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:90179098T>C	ENST00000370454.4	+	3	1224	c.969T>C	c.(967-969)taT>taC	p.Y323Y	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	323					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCTTTTGCTATCTGTGCTTTG	0.408																																						uc001dnl.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(967-969)taT>taC		Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.							140	114	122					1																	90179098		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179098T>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.969T>C	1.37:g.90179098T>C							p.Y323Y	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	2	1211	+		all_lung(203;0.126)	323					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.969T>C	CCDS725.1																																																																																				0.408	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		C	90179098	T	C	90179098	2	2	230	1	0	0	0	0	0	0	0	1	9023	1442	50	4		4	LRRC8C	1	90179098	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	14470403	90179098	159071523	6	16135											
ABCA4	24	broad.mit.edu	37	chr1	94508933	94508933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattccgcttgtggtggaggCctgtgtcctccaacatggct	5	12	12	12	1	0	0	0	0	0	0	3	1	3	1	4	4	1	2	4	4	1	2	rs61750062		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:94508933C>T	ENST00000370225.3	-	21	3235	c.3149G>A	c.(3148-3150)gGc>gAc	p.G1050D		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1050	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGTGGAGGCCTGTGTCCTC	0.582																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM012879	ABCA4	M	rs61750062	c.(3148-3150)gGc>gAc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							104	89	94					1																	94508933		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94508933C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3149G>A	1.37:g.94508933C>T	ENSP00000359245:p.Gly1050Asp						p.G1050D	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	20	3253	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1050			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3149G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553517	0.86127	.	.	ENSG00000198691	ENST00000370225	D	0.94613	-3.47	5.83	5.83	0.93111	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.100986	0.64402	D	0.000002	D	0.91277	0.7250	L	0.37630	1.12	0.80722	D	1	P	0.38535	0.635	B	0.41691	0.364	D	0.91867	0.5504	10	0.62326	D	0.03	.	20.1252	0.97977	0.0:1.0:0.0:0.0	rs61750062	1050	P78363	ABCA4_HUMAN	D	1050	ENSP00000359245:G1050D	ENSP00000359245:G1050D	G	-	2	0	ABCA4	94281521	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	3.913000	0.56394	2.758000	0.94735	0.591000	0.81541	GGC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94508933	C	T	94508933	3	4	230	1	0	0	0	0	1	0	0	0	34	739	26	3	3792	3	ABCA4	1	94508933	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	4329835	94508933	154741688	7	16136											
POU2F1	5451	broad.mit.edu	37	chr1	167353107	167353107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacaggtctcctgcaagcGcaaaatcttctaacgcaact	12	10	6	13	2	4	0	0	0	4	0	5	0	4	0	1	1	5	3	1	1	6	3	rs376220117		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:167353107G>A	ENST00000541643.3	+	9	825	c.663G>A	c.(661-663)gcG>gcA	p.A221A	POU2F1_ENST00000367862.5_Silent_p.A233A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.A244A|POU2F1_ENST00000429375.2_Silent_p.A181A|RP11-52A20.2_ENST00000607611.1_RNA|POU2F1_ENST00000452019.1_Silent_p.A221A|POU2F1_ENST00000420254.3_Silent_p.A221A			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	221					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTGCAAGCGCAAAATCTTC	0.438																																						uc001gec.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(661-663)gcG>gcA		Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.		G	,,	0,4406		0,0,2203	96	90	92		699,543,732	5.7	1	1		92	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	POU2F1	NM_001198783.1,NM_001198786.1,NM_002697.3	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	233/756,181/704,244/767	167353107	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167353107G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.663G>A	1.37:g.167353107G>A						POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.A244A|POU2F1_uc010plh.2_Silent_p.A181A|POU2F1_uc001ged.3_Silent_p.A219A|POU2F1_uc001gef.3_Silent_p.A233A|POU2F1_uc001geg.3_Silent_p.A119A	p.A221A	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN			8	902	+			221					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.663G>A																																																																																					0.438	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		A	167353107	G	A	167353107	2	1	230	1	0	0	0	0	0	0	0	1	12271	1074	38	1		1	POU2F1	1	167353107	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	72844174	167353107	81897514	8	16137											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267320	185267320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattgctccttggtgaagtCatatttcccatcatcttcca	8	15	6	12	0	3	1	2	1	1	0	6	1	6	1	3	1	1	2	3	1	2	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:185267320C>T	ENST00000367498.3	-	15	2398	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.M374I	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	592					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTGGTGAAGTCATATTTCCCA	0.423																																						uc001grl.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1774-1776)atG>atA		Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.							278	241	253					1																	185267320		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267320C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1776G>A	1.37:g.185267320C>T	ENSP00000356468:p.Met592Ile					IVNS1ABP_uc001gri.3_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.3_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	p.M592I	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			14	2399	-			592					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1776G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542289	0.85917	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.84070	-1.8;-1.8	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	M	0.88450	2.955	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.83275	0.471;0.996	D	0.93707	0.7020	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	374;592	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	I	592;374	ENSP00000356468:M592I;ENSP00000375864:M374I	ENSP00000356468:M592I	M	-	3	0	IVNS1ABP	183533943	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.637000	0.83313	2.677000	0.91161	0.563000	0.77884	ATG		0.423	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		T	185267320	C	T	185267320	3	4	230	1	0	0	0	0	1	0	0	0	7930	826	29	3	156	3	IVNS1ABP	1	185267320	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	17914213	185267320	63983301	9	16138											
REN	5972	broad.mit.edu	37	chr1	204130489	204130489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaaccagtgtcaaagaCgactttgaaggtctggggtg	11	8	15	7	2	2	2	1	1	1	1	2	5	2	3	1	4	1	0	1	4	3	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:204130489C>T	ENST00000272190.8	-	3	332	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	REN_ENST00000367195.2_Missense_Mutation_p.V102I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	102					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.V102I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGTCAAAGACGACTTTGAAG	0.582																																						uc001haq.2																			1	Substitution - Missense(1)	p.V102I(2)	NS(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(304-306)Gtc>Atc		Homo sapiens renin (REN), mRNA.	Aliskiren(DB01258)|Remikiren(DB00212)						74	60	64					1																	204130489		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204130489C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.304G>A	1.37:g.204130489C>T	ENSP00000272190:p.Val102Ile						p.V102I	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	348	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		102					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.304G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833732	0.32421	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.56611	0.45;0.45	5.51	-4.05	0.03998	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.417851	0.27664	N	0.018362	T	0.27384	0.0672	N	0.04787	-0.16	0.46241	D	0.998943	B	0.17268	0.021	B	0.17979	0.02	T	0.05616	-1.0874	10	0.18276	T	0.48	.	17.1488	0.86773	0.0:0.6863:0.0:0.3137	.	102	P00797	RENI_HUMAN	I	102;21;102	ENSP00000356163:V102I;ENSP00000272190:V102I	ENSP00000272190:V102I	V	-	1	0	REN	202397112	0.990000	0.36364	0.955000	0.39395	0.764000	0.43329	0.362000	0.20284	-0.745000	0.04772	-0.302000	0.09304	GTC		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		T	204130489	C	T	204130489	3	4	230	1	0	0	0	0	1	0	0	0	13224	536	19	1	948	1	REN	1	204130489	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	18863169	204130489	45120132	10	16139											
HSD11B1	3290	broad.mit.edu	37	chr1	209880164	209880164	+	Splice_Site	DEL	G	G	-																															gcccaagcaggaaagctcatGggtgaggctgtttctcttac																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:209880164delG	ENST00000367028.2	+	4	499	c.330delG	c.(328-330)atg>at	p.M110fs	HSD11B1_ENST00000367027.3_Splice_Site_p.M110fs|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site_p.M110fs	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	110					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GAAAGCTCATGGGTGAGGCTG	0.517																																						uc001hhj.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.e4+1		Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	NADH(DB00157)						152	137	142					1																	209880164		2203	4300	6503	SO:0001630	splice_region_variant	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209880164delG	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.331+1G>-	1.37:g.209880164delG						HSD11B1_uc021pin.1_Splice_Site_p.G111_splice|HSD11B1_uc001hhk.3_Splice_Site_p.G111_splice	p.G111_splice	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	4	463	+			111					B2R9Z1|D3DT89	Frame_Shift_Del	DEL	ENST00000367028.2	37	c.331_splice	CCDS1489.1																																																																																				0.517	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	Frame_Shift_Del	-	209880164	G	-	209880164	8	5	230	1	0	1	0	1	0	0	1	0	7375	1362	47	0	340	0	HSD11B1	1	209880164	Splice_Site	DEL	G	TCGA-32-2495-01A-01D-1353-08	5749675	209880164	39370457	11	16140											
OR2T4	127074	broad.mit.edu	37	chr1	248525116	248525116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggaaatgctgtcctgatCcttctgatacactgtgacgc	8	13	9	11	1	2	3	0	3	2	0	4	4	4	4	2	1	2	1	2	1	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248525116C>A	ENST00000366475.1	+	1	234	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTCCTGATCCTTCTGATAC	0.473																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(232-234)atC>atA		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.							432	309	351					1																	248525116		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525116C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.234C>A	1.37:g.248525116C>A							p.I78I	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	234	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		78					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.234C>A	CCDS31113.1																																																																																				0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525116	C	A	248525116	2	1	230	1	0	0	0	0	0	0	0	1	11027	845	30	5		5	OR2T4	1	248525116	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	38644952	248525116	725505	12	16141											
OR14I1	401994	broad.mit.edu	37	chr1	248844752	248844752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctaagactatatatgatgGgattgaggaagggaggcaaa	15	9	13	4	0	0	3	0	2	0	1	1	6	1	6	1	4	0	1	1	4	6	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248844752G>A	ENST00000342623.3	-	1	877	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATATATGATGGGATTGAGGAA	0.403																																						uc001ieu.1																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(853-855)cCc>cTc		Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.							88	85	86					1																	248844752		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844752G>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.854C>T	1.37:g.248844752G>A	ENSP00000339726:p.Pro285Leu						p.P285L	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			0	854	-			285						Missense_Mutation	SNP	ENST00000342623.3	37	c.854C>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513456	0.64522	.	.	ENSG00000189181	ENST00000342623	T	0.63417	-0.04	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000339	T	0.79275	0.4418	M	0.84846	2.72	0.48975	D	0.999732	D	0.89917	1.0	D	0.97110	1.0	T	0.82739	-0.0308	10	0.72032	D	0.01	.	12.1968	0.54303	0.0:0.0:1.0:0.0	.	285	A6ND48	O14I1_HUMAN	L	285	ENSP00000339726:P285L	ENSP00000339726:P285L	P	-	2	0	OR14I1	246911375	1.000000	0.71417	0.228000	0.23943	0.734000	0.41952	6.794000	0.75135	1.675000	0.50919	0.543000	0.68304	CCC		0.403	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		A	248844752	G	A	248844752	3	1	230	1	0	0	0	0	1	0	0	0	10947	1232	43	3	85	3	OR14I1	1	248844752	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	319636	248844752	405869	13	16142											
NRXN1	9378	broad.mit.edu	37	chr2	50280492	50280492	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtctccataattgatgTggacatctctgattgcatgg	9	14	11	7	0	2	2	0	2	2	0	4	3	2	3	1	3	1	2	1	3	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:50280492T>G	ENST00000406316.2	-	20	5431	c.3955A>C	c.(3955-3957)Aca>Cca	p.T1319P	NRXN1_ENST00000342183.5_Missense_Mutation_p.T284P|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1349P|NRXN1_ENST00000401710.1_Missense_Mutation_p.T337P|NRXN1_ENST00000406859.3_Missense_Mutation_p.T1319P|NRXN1_ENST00000402717.3_Missense_Mutation_p.T1341P|NRXN1_ENST00000404971.1_Missense_Mutation_p.T1389P|NRXN1_ENST00000405472.3_Missense_Mutation_p.T1341P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1319					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAATTGATGTGGACATCTCT	0.502																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3955-3957)Aca>Cca		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							151	138	142					2																	50280492		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50280492T>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3955A>C	2.37:g.50280492T>G	ENSP00000384311:p.Thr1319Pro					NRXN1_uc010fbp.3_Missense_Mutation_p.T284P|NRXN1_uc002rxb.4_Missense_Mutation_p.T1021P|NRXN1_uc021vhg.1_Missense_Mutation_p.T1389P|NRXN1_uc021vhi.1_Missense_Mutation_p.T1385P|NRXN1_uc021vhj.1_Missense_Mutation_p.T1315P	p.T1319P	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		18	4876	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1319					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3955A>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.749655	0.49257	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.74209	0.66;1.94;-0.08;-0.3;-0.82;-0.71;-0.42;-0.43	5.65	5.65	0.86999	.	0.697544	0.11463	U	0.561565	T	0.72700	0.3493	L	0.50333	1.59	0.34967	D	0.75273	B;P;B;B	0.39883	0.002;0.693;0.004;0.418	B;B;B;B	0.38921	0.005;0.275;0.015;0.285	T	0.78229	-0.2285	10	0.52906	T	0.07	.	15.8691	0.79098	0.0:0.0:0.0:1.0	.	1389;284;1319;1341	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	P	284;238;337;1389;1319;1341;1349;1390;1341;1319	ENSP00000341184:T284P;ENSP00000385580:T337P;ENSP00000385142:T1389P;ENSP00000384311:T1319P;ENSP00000434015:T1341P;ENSP00000385017:T1349P;ENSP00000385434:T1341P;ENSP00000385681:T1319P	ENSP00000341184:T284P	T	-	1	0	NRXN1	50133996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.097000	0.71452	2.151000	0.67156	0.533000	0.62120	ACA		0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			G	50280492	T	G	50280492	3	3	230	1	0	0	0	0	1	0	0	0	10665	1696	59	5	490	5	NRXN1	2	50280492	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		50280492	192918881	14	16143											
LCT	3938	broad.mit.edu	37	chr2	136594490	136594490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataccttataatgggtgaTctgactggcatggagactgc	12	11	11	7	0	1	3	0	2	1	1	1	4	1	3	1	3	2	1	1	3	4	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:136594490T>A	ENST00000264162.2	-	1	260	c.250A>T	c.(250-252)Atc>Ttc	p.I84F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	84					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TAATGGGTGATCTGACTGGCA	0.507																																						uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(250-252)Atc>Ttc		Homo sapiens lactase (LCT), mRNA.							85	85	85					2																	136594490		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594490T>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.250A>T	2.37:g.136594490T>A	ENSP00000264162:p.Ile84Phe						p.I84F	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	0	261	-			84					Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.250A>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	t	11.54	1.668475	0.29604	.	.	ENSG00000115850	ENST00000264162	T	0.27720	1.65	5.83	-5.22	0.02806	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.575191	0.17565	N	0.169667	T	0.29288	0.0729	L	0.28274	0.84	0.22684	N	0.998854	B	0.33318	0.408	B	0.42163	0.378	T	0.30060	-0.9991	10	0.72032	D	0.01	-7.6663	22.0077	0.99965	0.0:0.8753:0.0:0.1247	.	84	P09848	LPH_HUMAN	F	84	ENSP00000264162:I84F	ENSP00000264162:I84F	I	-	1	0	LCT	136310960	0.315000	0.24571	0.015000	0.15790	0.038000	0.13279	0.750000	0.26334	-0.994000	0.03463	-0.922000	0.02736	ATC		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136594490	T	A	136594490	3	1	230	1	0	0	0	0	1	0	0	0	8693	1435	50	5	5601	5	LCT	2	136594490	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	86313998	136594490	106604883	15	16144											
COBLL1	22837	broad.mit.edu	37	chr2	165551199	165551199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatccctttctgcctctttAtttgtcagttcttttggagc	5	20	6	10	0	4	0	1	0	3	0	5	1	5	1	2	1	2	1	2	1	2	8			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:165551199A>T	ENST00000392717.2	-	13	2935	c.2931T>A	c.(2929-2931)aaT>aaA	p.N977K	COBLL1_ENST00000375458.2_Missense_Mutation_p.N901K|COBLL1_ENST00000194871.6_Missense_Mutation_p.N1006K|COBLL1_ENST00000342193.4_Missense_Mutation_p.N939K|COBLL1_ENST00000409184.3_Missense_Mutation_p.N939K			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	977						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCCTCTTTATTTGTCAGTT	0.468																																						uc002ucp.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2815-2817)aaT>aaA		Homo sapiens COBL-like 1 (COBLL1), mRNA.							51	52	52					2																	165551199		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551199A>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2931T>A	2.37:g.165551199A>T	ENSP00000376478:p.Asn977Lys					COBLL1_uc002ucq.3_Missense_Mutation_p.N901K|COBLL1_uc010zcw.2_Missense_Mutation_p.N1006K|COBLL1_uc010zcx.2_Missense_Mutation_p.N947K|COBLL1_uc002ucn.3_Missense_Mutation_p.N367K|COBLL1_uc002uco.3_Missense_Mutation_p.N670K	p.N939K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			11	3039	-			977					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2817T>A		.	.	.	.	.	.	.	.	.	.	A	0.044	-1.273639	0.01421	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	-0.529	0.11901	.	0.747690	0.12754	N	0.441935	T	0.07234	0.0183	N	0.01874	-0.695	0.19775	N	0.999954	B;B	0.15473	0.007;0.013	B;B	0.13407	0.004;0.009	T	0.29610	-1.0006	9	0.05436	T	0.98	0.0091	0.9131	0.01298	0.4855:0.1476:0.1469:0.22	.	977;939	Q53SF7;Q53SF7-2	COBL1_HUMAN;.	K	901;939;939;977;1006	.	ENSP00000194871:N1006K	N	-	3	2	COBLL1	165259445	0.087000	0.21565	0.007000	0.13788	0.025000	0.11179	0.437000	0.21543	-0.321000	0.08627	0.533000	0.62120	AAT		0.468	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		T	165551199	A	T	165551199	3	4	230	1	0	0	0	0	1	0	0	0	3654	446	16	5	695	5	COBLL1	2	165551199	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	28956709	165551199	77648174	16	16145											
ZC3H15	55854	broad.mit.edu	37	chr2	187368763	187368763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatattgtctctataggtgtGcaagcatttcctggaagcta	11	14	9	7	0	1	0	0	0	1	0	3	1	2	1	1	2	3	3	1	2	7	6			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:187368763G>A	ENST00000337859.6	+	6	766	c.539G>A	c.(538-540)tGc>tAc	p.C180Y	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000468120.1_3'UTR|ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	180					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CTATAGGTGTGCAAGCATTTC	0.438																																						uc002upo.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(538-540)tGc>tAc		Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.							152	142	145					2																	187368763		1878	4112	5990	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187368763G>A		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.539G>A	2.37:g.187368763G>A	ENSP00000338788:p.Cys180Tyr						p.C180Y	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		5	764	+			180					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.539G>A	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981890	0.93044	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.59638	0.25	5.87	5.87	0.94306	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83505	0.0077	10	0.87932	D	0	-4.3813	20.5827	0.99408	0.0:0.0:1.0:0.0	.	180	Q8WU90	ZC3HF_HUMAN	Y	180	ENSP00000338788:C180Y	ENSP00000338788:C180Y	C	+	2	0	ZC3H15	187077008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC		0.438	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		A	187368763	G	A	187368763	3	1	230	1	0	0	0	0	1	0	0	0	17564	1319	46	3	561	3	ZC3H15	2	187368763	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	21817564	187368763	55830610	17	16146											
CCDC150	284992	broad.mit.edu	37	chr2	197521487	197521487	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgagtttctggtaaatCgaatgtgccgtcttgaaagc	10	13	11	7	2	2	2	0	2	2	0	3	3	2	2	1	1	2	2	1	1	4	3	rs200403800		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:197521487C>T	ENST00000389175.4	+	3	442	c.307C>T	c.(307-309)Cga>Tga	p.R103*	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTGGTAAATCGAATGTGCCG	0.398																																						uc002utp.1																			0		p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(307-309)Cga>Tga		Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.		C	stop/ARG	1,3681		0,1,1840	119	114	116		307	5	1	2		116	0,8198		0,0,4099	yes	stop-gained	CCDC150	NM_001080539.1		0,1,5939	TT,TC,CC		0.0,0.0272,0.0084		103/1102	197521487	1,11879	1841	4099	5940	SO:0001587	stop_gained	284992							g.chr2:197521487C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.307C>T	2.37:g.197521487C>T	ENSP00000373827:p.Arg103*					CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.R103*	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			2	442	+			103					Q6P5U6|Q6P663|Q8N8V5	Nonsense_Mutation	SNP	ENST00000389175.4	37	c.307C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	38	6.788010	0.97837	2.72E-4	0.0	ENSG00000144395	ENST00000389175;ENST00000536389	.	.	.	5.03	5.03	0.67393	.	0.087795	0.45606	D	0.000345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.239	17.3013	0.87183	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000373827:R103X	R	+	1	2	CCDC150	197229732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.282000	0.51693	2.632000	0.89209	0.655000	0.94253	CGA		0.398	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		T	197521487	C	T	197521487	4	4	230	1	0	0	0	0	0	1	0	0	2785	876	31	2	317	2	CCDC150	2	197521487	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	10152724	197521487	45677886	18	16147											
SLC22A14	9389	broad.mit.edu	37	chr3	38355344	38355344	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggctgtgctgcatctttctCctccagcagattgggaggaa	7	11	12	11	1	2	1	0	0	2	1	4	3	3	3	2	3	3	4	2	3	1	2	rs553267314		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:38355344C>G	ENST00000273173.4	+	7	1381	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	SLC22A14_ENST00000448498.1_Silent_p.L430L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	430					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCATCTTTCTCCTCCAGCAGA	0.577																																						uc003cib.2																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1288-1290)ctC>ctG		Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.							130	132	131					3																	38355344		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38355344C>G	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1290C>G	3.37:g.38355344C>G						SLC22A14_uc010hhc.1_Silent_p.L430L|SLC22A14_uc011ayo.1_Non-coding_Transcript	p.L430L	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	6	1363	+			430					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1290C>G	CCDS2677.1																																																																																				0.577	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		G	38355344	C	G	38355344	2	3	230	1	0	0	0	0	0	0	0	1	14445	842	30	5		5	SLC22A14	3	38355344	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08		38355344	159667086	19	16148											
CDCP1	64866	broad.mit.edu	37	chr3	45153846	45153846	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcttatgagctttgacAtcccagatgaaagttctgtt	10	15	8	8	0	2	4	0	3	2	1	3	4	3	4	1	0	2	4	1	0	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:45153846A>G	ENST00000296129.1	-	3	518	c.384T>C	c.(382-384)gaT>gaC	p.D128D	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Silent_p.D128D	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	128						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGCTTTGACATCCCAGATGA	0.527																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(382-384)gaT>gaC		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							169	175	173					3																	45153846		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153846A>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.384T>C	3.37:g.45153846A>G						CDCP1_uc003con.3_Silent_p.D128D	p.D128D	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	519	-			128					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.384T>C	CCDS2727.1																																																																																				0.527	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		G	45153846	A	G	45153846	2	3	230	1	0	0	0	0	0	0	0	1	3093	214	8	4		4	CDCP1	3	45153846	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08	6798502	45153846	152868584	20	16149											
MYH15	22989	broad.mit.edu	37	chr3	108179152	108179152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaattaaaaattactttatGcagagatgcaaccgtttgga	15	12	8	6	1	0	1	0	0	0	1	0	3	0	2	1	1	4	4	1	1	7	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:108179152G>C	ENST00000273353.3	-	18	2043	c.1987C>G	c.(1987-1989)Cat>Gat	p.H663D	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	663	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTACTTTATGCAGAGATGCA	0.299																																						uc003dxa.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1987-1989)Cat>Gat		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							62	61	62					3																	108179152		1824	4069	5893	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108179152G>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1987C>G	3.37:g.108179152G>C	ENSP00000273353:p.His663Asp						p.H663D	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			17	2044	-			663			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1987C>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656112	0.47467	.	.	ENSG00000144821	ENST00000273353	T	0.72167	-0.63	4.01	3.14	0.36123	Myosin head, motor domain (2);	.	.	.	.	D	0.88662	0.6497	H	0.97564	4.03	0.43902	D	0.996539	D	0.89917	1.0	D	0.87578	0.998	D	0.91635	0.5322	9	0.72032	D	0.01	.	12.6714	0.56870	0.082:0.0:0.918:0.0	.	663	Q9Y2K3	MYH15_HUMAN	D	663	ENSP00000273353:H663D	ENSP00000273353:H663D	H	-	1	0	MYH15	109661842	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	3.565000	0.53798	1.279000	0.44446	-0.258000	0.10820	CAT		0.299	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		C	108179152	G	C	108179152	3	2	230	1	0	0	0	0	1	0	0	0	10034	1319	46	5	3953	5	MYH15	3	108179152	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	63025306	108179152	89843278	21	16150											
GOLGB1	2804	broad.mit.edu	37	chr3	121413693	121413693	+	Frame_Shift_Del	DEL	G	G	-																															cattttggttacttcctcctGaagcatttttagttcaccat																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:121413693delG	ENST00000340645.5	-	13	5787	c.5662delC	c.(5662-5664)cagfs	p.Q1888fs	GOLGB1_ENST00000393667.3_Frame_Shift_Del_p.Q1893fs	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1888					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTTCCTCCTGAAGCATTTTT	0.368																																						uc010hrc.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5677-5679)cagfs		Homo sapiens golgin B1 (GOLGB1), mRNA.							159	176	170					3																	121413693		2203	4300	6503	SO:0001589	frameshift_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413693delG	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5662delC	3.37:g.121413693delG	ENSP00000341848:p.Gln1888fs					GOLGB1_uc003eei.4_Frame_Shift_Del_p.Q1888fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.Q1813fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs	p.Q1893fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	12	5803	-			1888					B2ZZ91|D3DN92|E7EP74|Q14398	Frame_Shift_Del	DEL	ENST00000340645.5	37	c.5677delC	CCDS3004.1																																																																																				0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		-	121413693	G	-	121413693	7	5	230	1	0	1	0	1	0	0	0	0	6565	1299	45	0	4157	0	GOLGB1	3	121413693	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	13234541	121413693	76608737	22	16151											
DIRC2	84925	broad.mit.edu	37	chr3	122514299	122514299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctacggcttctccaGctgggacatcgcgctgctcg	5	8	12	16	4	1	0	0	0	1	0	4	1	1	1	3	3	3	4	3	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:122514299G>A	ENST00000261038.5	+	1	658	c.260G>A	c.(259-261)aGc>aAc	p.S87N	HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000383659.1_5'Flank|HSPBAP1_ENST00000306103.2_5'Flank	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	87					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGCTTCTCCAGCTGGGACATC	0.662																																						uc003efw.4																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(259-261)aGc>aAc		Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.							23	24	23					3																	122514299		2202	4300	6502	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122514299G>A	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.260G>A	3.37:g.122514299G>A	ENSP00000261038:p.Ser87Asn					DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_5'UTR|HSPBAP1_uc003efu.2_5'Flank|HSPBAP1_uc003efv.2_5'Flank	p.S87N	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	0	399	+			87					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.260G>A	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	G	6.693	0.496435	0.12762	.	.	ENSG00000138463	ENST00000261038	T	0.59364	0.27	4.5	4.5	0.54988	Major facilitator superfamily domain, general substrate transporter (1);	0.610624	0.18476	N	0.140075	T	0.40956	0.1138	N	0.19112	0.55	0.26549	N	0.97394	B	0.17038	0.02	B	0.15052	0.012	T	0.10823	-1.0613	10	0.13470	T	0.59	.	14.5196	0.67842	0.0:0.0:1.0:0.0	.	87	Q96SL1	DIRC2_HUMAN	N	87	ENSP00000261038:S87N	ENSP00000261038:S87N	S	+	2	0	DIRC2	123996989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.196000	0.51020	2.313000	0.78055	0.455000	0.32223	AGC		0.662	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		A	122514299	G	A	122514299	3	1	230	1	0	0	0	0	1	0	0	0	4534	971	34	3	262	3	DIRC2	3	122514299	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	1100606	122514299	75508131	23	16152											
SELT	27230	broad.mit.edu	37	chr3	150321196	150321196	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgtctgcgatggtccGgagcgaggcctcggccaatc	5	6	17	13	6	1	0	0	0	1	0	4	3	2	1	3	6	2	0	3	6	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:150321196G>A	ENST00000479209.1	-	0	0				SELT_ENST00000485923.1_5'UTR|SERP1_ENST00000490945.1_5'Flank|SELT_ENST00000471696.1_Missense_Mutation_p.R16Q|SELT_ENST00000477889.1_5'UTR|SELT_ENST00000480740.1_Intron			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGATGGTCCGGAGCGAGGCC	0.597																																						uc021xfp.1																			0											c.(46-48)cGg>cAg		Homo sapiens selenoprotein T (SELT), mRNA.							18	22	21					3																	150321196		1981	4157	6138	SO:0001631	upstream_gene_variant	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150321196G>A	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"ribosome associated membrane protein 4"					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769		3.37:g.150321196G>A	Exception_encountered					SERP1_uc003exz.3_5'Flank|BC039424_uc003eye.2_5'Flank	p.R16Q	NM_016275		P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		0	131	+			16	RSE -> WSD (in Ref. 4; AAH09611).				D3DNI6	Missense_Mutation	SNP	ENST00000479209.1	37	c.47G>A	CCDS3150.1	.	.	.	.	.	.	.	.	.	.	g	14.24	2.477638	0.44044	.	.	ENSG00000198843	ENST00000471696	.	.	.	4.81	2.98	0.34508	.	0.531607	0.18884	N	0.128499	T	0.26666	0.0652	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05683	-1.0870	9	0.27785	T	0.31	-5.2969	5.0267	0.14389	0.1871:0.0:0.6423:0.1706	.	16	P62341	SELT_HUMAN	Q	16	.	ENSP00000418910:R16Q	R	+	2	0	RP11-392O18.1	151803886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.550000	0.36223	1.148000	0.42385	0.651000	0.88453	CGG		0.597	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445		A	150321196	G	A	150321196	1	1	230	0	1	0	0	0	0	0	0	0	14022	1116	39	2		2	SELT	3	150321196	5'Flank	SNP	G	TCGA-32-2495-01A-01D-1353-08	27806897	150321196	47701234	24	16153											
MFSD7	84179	broad.mit.edu	37	chr4	680439	680439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacaggaccaagtccTcagcaatgacgtcagccaca	13	5	9	14	1	2	1	2	1	0	0	3	3	3	3	4	2	2	1	4	2	2	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:680439T>C	ENST00000404286.2	-	2	191	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MFSD7_ENST00000503156.1_5'UTR|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.E59G|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000515118.1_Missense_Mutation_p.E59G	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GACCAAGTCCTCAGCAATGAC	0.622																																						uc003gay.3																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(175-177)gAg>gGg		Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.							116	100	106					4																	680439		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680439T>C	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.176A>G	4.37:g.680439T>C	ENSP00000384616:p.Glu59Gly					MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.E59G|MFSD7_uc003gaz.3_Intron	p.E59G	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			1	233	-			59					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.176A>G		.	.	.	.	.	.	.	.	.	.	T	9.301	1.052984	0.19907	.	.	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000515118;ENST00000512249	T;T;D;T	0.95447	0.24;0.24;-3.71;0.22	4.62	-2.66	0.06077	Major facilitator superfamily domain, general substrate transporter (1);	1.191370	0.05743	N	0.601705	D	0.90051	0.6893	L	0.35542	1.07	0.20196	N	0.999922	B;P;P	0.45715	0.278;0.664;0.865	B;B;B	0.40329	0.063;0.326;0.23	T	0.83148	-0.0105	9	.	.	.	-2.1732	4.4561	0.11643	0.0:0.2794:0.3235:0.3971	.	59;59;59	D6R9R0;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	G	59	ENSP00000320234:E59G;ENSP00000384616:E59G;ENSP00000423204:E59G;ENSP00000425038:E59G	.	E	-	2	0	MFSD7	670439	0.163000	0.22920	0.007000	0.13788	0.017000	0.09413	1.215000	0.32431	-0.637000	0.05516	0.379000	0.24179	GAG		0.622	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		C	680439	T	C	680439	3	2	230	1	0	0	0	0	1	0	0	0	9537	1551	54	4	1539	4	MFSD7	4	680439	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		680439	190473837	25	16154											
DRD5	1816	broad.mit.edu	37	chr4	9784960	9784960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagggtcctttcgatcGcatgttccagatctatcaga	9	11	12	9	2	2	2	1	0	1	2	6	5	4	4	2	3	0	2	2	3	1	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:9784960G>A	ENST00000304374.2	+	1	1703	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	436					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCTTTCGATCGCATGTTCCAG	0.552																																						uc003gmb.4																			0		p.R436S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1306-1308)cGc>cAc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						73	66	69					4																	9784960		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784960G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1307G>A	4.37:g.9784960G>A	ENSP00000306129:p.Arg436His						p.R436H	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1703	+			436					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1307G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	2.231	-0.376081	0.05034	.	.	ENSG00000169676	ENST00000304374	T	0.66638	-0.22	4.53	-0.289	0.12851	.	0.584500	0.15361	N	0.266384	T	0.48607	0.1509	L	0.38531	1.155	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.29058	-1.0024	10	0.39692	T	0.17	.	4.3716	0.11251	0.412:0.0:0.4393:0.1487	.	436	P21918	DRD5_HUMAN	H	436	ENSP00000306129:R436H	ENSP00000306129:R436H	R	+	2	0	DRD5	9394058	0.021000	0.18746	0.000000	0.03702	0.035000	0.12851	0.577000	0.23758	-0.319000	0.08652	0.460000	0.39030	CGC		0.552	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9784960	G	A	9784960	3	1	230	1	0	0	0	0	1	0	0	0	4760	1087	38	1	1309	1	DRD5	4	9784960	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9104521	9784960	181369316	26	16155											
UGT2A1	10941	broad.mit.edu	37	chr4	70513056	70513056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatagaatctccaaatggTtgaaggagatggtctatttt	12	14	10	5	0	2	4	0	2	2	2	3	5	2	4	1	3	0	1	1	3	5	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:70513056T>C	ENST00000503640.1	-	1	362	c.307A>G	c.(307-309)Acc>Gcc	p.T103A	UGT2A1_ENST00000512704.1_Missense_Mutation_p.T103A|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T103A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T103A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	103					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTCCAAATGGTTGAAGGAGAT	0.408																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(307-309)Acc>Gcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							88	82	84					4																	70513056		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70513056T>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.307A>G	4.37:g.70513056T>C	ENSP00000424478:p.Thr103Ala					UGT2A1_uc010ihu.3_Missense_Mutation_p.T103A|UGT2A1_uc003hem.4_Missense_Mutation_p.T103A|UGT2A1_uc010iht.3_Missense_Mutation_p.T103A	p.T103A	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			1	423	-			103					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.307A>G	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233105	0.39498	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.61274	0.25;0.12;0.25;0.25;0.25	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000059	T	0.64983	0.2648	L	0.38692	1.165	.	.	.	D;B;D;P	0.76494	0.997;0.27;0.999;0.911	D;B;D;P	0.83275	0.975;0.192;0.996;0.621	T	0.66803	-0.5831	9	0.25106	T	0.35	.	12.495	0.55923	0.0:0.0:0.0:1.0	.	103;103;103;103	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	A	103	ENSP00000424478:T103A;ENSP00000421432:T103A;ENSP00000425497:T103A;ENSP00000286604:T103A;ENSP00000427709:T103A	ENSP00000286604:T103A	T	-	1	0	UGT2A1	70547645	0.998000	0.40836	0.984000	0.44739	0.981000	0.71138	2.674000	0.46867	2.215000	0.71742	0.482000	0.46254	ACC		0.408	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		C	70513056	T	C	70513056	3	2	230	1	0	0	0	0	1	0	0	0	16950	1725	60	4	1300	4	UGT2A1	4	70513056	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	60728096	70513056	120641220	27	16156											
EGF	1950	broad.mit.edu	37	chr4	110883096	110883096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtcccttatgtttcTgtcctgaaggctcagtgctt	7	14	10	10	0	2	2	1	1	1	1	4	2	4	2	2	2	1	3	2	2	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:110883096T>A	ENST00000265171.5	+	8	1712	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	EGF_ENST00000503392.1_Missense_Mutation_p.C423S|EGF_ENST00000509793.1_Missense_Mutation_p.C381S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	423	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTTATGTTTCTGTCCTGAAGG	0.393																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1267-1269)Tgt>Agt		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						236	240	239					4																	110883096		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110883096T>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1267T>A	4.37:g.110883096T>A	ENSP00000265171:p.Cys423Ser					EGF_uc011cfu.2_Missense_Mutation_p.C381S|EGF_uc011cfv.2_Missense_Mutation_p.C423S	p.C423S	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1719	+		Hepatocellular(203;0.0893)	423			EGF-like 3.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1267T>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284417	0.80803	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.97731	-4.51;-4.51;-4.51	5.22	5.22	0.72569	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99663	1.0994	10	0.87932	D	0	.	14.7962	0.69878	0.0:0.0:0.0:1.0	.	423;381;423	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	S	381;423;423	ENSP00000424316:C381S;ENSP00000265171:C423S;ENSP00000421384:C423S	ENSP00000265171:C423S	C	+	1	0	EGF	111102545	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.493000	0.60341	1.974000	0.57490	0.533000	0.62120	TGT		0.393	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			A	110883096	T	A	110883096	3	1	230	1	0	0	0	0	1	0	0	0	4962	1580	55	5	1297	5	EGF	4	110883096	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	40370040	110883096	80271180	28	16157											
PDZD2	23037	broad.mit.edu	37	chr5	32074373	32074381	+	In_Frame_Del	DEL	CCTATGCAG	CCTATGCAG	-																															gggcatggtggatgctgcgtCctatgcagccaacctcacgg																								rs373139089		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:32074373_32074381delCCTATGCAG	ENST00000438447.1	+	18	3549_3557	c.3161_3169delCCTATGCAG	c.(3160-3171)tcctatgcagcc>tcc	p.YAA1055del	PDZD2_ENST00000282493.3_In_Frame_Del_p.YAA1055del			O15018	PDZD2_HUMAN	PDZ domain containing 2	1055					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATGCTGCGTCCTATGCAGCCAACCTCAC	0.569																																						uc003jhl.3																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3160-3171)tcctatgcagcc>tcc		Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074373_32074381delCCTATGCAG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3161_3169delCCTATGCAG	5.37:g.32074373_32074381delCCTATGCAG	ENSP00000402033:p.Tyr1055_Ala1057del					PDZD2_uc003jhm.3_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del	p.YAA1055del	NM_178140	NP_835260	O15018	PDZD2_HUMAN			17	3549_3557	+			1055					Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.3161_3169delCCTATGCAG	CCDS34137.1																																																																																				0.569	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			-	32074381	CCTATGCAG	-	32074373	7	5	230	1	0	1	0	1	0	0	0	0	11701	855	30	0	3227	0	PDZD2	5	32074373	In_Frame_Del	DEL	CCTATGCAG	TCGA-32-2495-01A-01D-1353-08		32074373	148840887	29	16158											
ADAMTS12	81792	broad.mit.edu	37	chr5	33751608	33751608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtggatgcttcttcaCgggttcaatgaaaaagtctc	12	11	9	9	1	4	1	2	1	2	0	5	2	4	2	1	2	2	2	1	2	4	3	rs374678857		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:33751608C>T	ENST00000504830.1	-	3	870	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.V179M|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V179M|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	179					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTTCTTCACGGGTTCAATG	0.423										HNSCC(64;0.19)			C|||	1	0.000199681	0	0	5008	,	,		17287	0.001		0	False		,,,				2504	0					uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(535-537)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							130	130	130					5																	33751608		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33751608C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.535G>A	5.37:g.33751608C>T	ENSP00000422554:p.Val179Met	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M	p.V179M	NM_030955	NP_112217	P58397	ATS12_HUMAN			2	698	-			179					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.535G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134372	0.56828	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.06687	3.27;3.27;3.27	5.8	4.04	0.47022	Peptidase M12B, propeptide (1);	0.218004	0.37304	N	0.002150	T	0.17152	0.0412	L	0.52011	1.625	0.28307	N	0.922834	D;D;P	0.61697	0.987;0.99;0.901	P;P;P	0.59643	0.855;0.861;0.594	T	0.02275	-1.1184	10	0.72032	D	0.01	.	8.7016	0.34329	0.0:0.8278:0.0:0.1722	.	179;179;179	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	M	179	ENSP00000422554:V179M;ENSP00000344847:V179M;ENSP00000421638:V179M	ENSP00000344847:V179M	V	-	1	0	ADAMTS12	33787365	0.997000	0.39634	0.995000	0.50966	0.500000	0.33767	0.919000	0.28692	0.817000	0.34445	0.563000	0.77884	GTG		0.423	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33751608	C	T	33751608	3	4	230	1	0	0	0	0	1	0	0	0	257	536	19	1	4337	1	ADAMTS12	5	33751608	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1677235	33751608	147163652	30	16159											
ACSL6	23305	broad.mit.edu	37	chr5	131296260	131296260	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaattcctctcttctGggcccaggagggcataactt	7	13	8	13	0	3	0	1	0	2	0	6	1	5	1	3	3	1	1	3	3	2	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:131296260G>A	ENST00000379240.1	-	19	1990	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q613*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q613*|ACSL6_ENST00000544770.1_Nonsense_Mutation_p.Q522*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q624*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q613*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q628*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q593*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q538*|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q538*|ACSL6_ENST00000379264.2_Nonsense_Mutation_p.Q638*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q638*			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	613					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTCTTCTGGGCCCAGGAG	0.458																																						uc003kvx.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1912-1914)Cag>Tag		Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.							146	135	138					5																	131296260		2203	4300	6503	SO:0001587	stop_gained	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131296260G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1837C>T	5.37:g.131296260G>A	ENSP00000368542:p.Gln613*					ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Nonsense_Mutation_p.Q603*|ACSL6_uc003kvy.2_Nonsense_Mutation_p.Q638*|ACSL6_uc003kvz.2_Nonsense_Mutation_p.Q538*|ACSL6_uc021ydh.1_Nonsense_Mutation_p.Q538*|ACSL6_uc010jdo.2_Nonsense_Mutation_p.Q613*|ACSL6_uc003kwa.2_Nonsense_Mutation_p.Q624*|ACSL6_uc003kvw.2_Nonsense_Mutation_p.Q259*|ACSL6_uc010jdn.2_Nonsense_Mutation_p.Q628*	p.Q638*	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	2021	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	613					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Nonsense_Mutation	SNP	ENST00000379240.1	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.759542	0.98474	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	.	.	.	5.81	4.87	0.63330	.	0.249049	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4916	0.50383	0.0:0.0:0.612:0.388	.	.	.	.	X	613;638;628;538;538;638;624;613;522;613;593;613	.	ENSP00000296869:Q638X	Q	-	1	0	ACSL6	131324159	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.648000	0.61425	2.741000	0.93983	0.655000	0.94253	CAG		0.458	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		A	131296260	G	A	131296260	4	1	230	1	0	0	0	0	0	1	0	0	181	1357	47	3	268	3	ACSL6	5	131296260	Nonsense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	97544652	131296260	49619000	31	16160											
CSF1R	1436	broad.mit.edu	37	chr5	149456956	149456956	+	Frame_Shift_Del	DEL	G	G	-																															gttgagggtcaggactttttGgtaacggttattatgaaagt																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:149456956delG	ENST00000286301.3	-	6	1063	c.772delC	c.(772-774)caafs	p.Q258fs	CSF1R_ENST00000543093.1_Frame_Shift_Del_p.Q258fs	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	258	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGACTTTTTGGTAACGGTTA	0.478																																						uc003lrl.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(772-774)caafs		Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	Imatinib(DB00619)|Sunitinib(DB01268)						278	258	265					5																	149456956		2203	4300	6503	SO:0001589	frameshift_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149456956delG	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.772delC	5.37:g.149456956delG	ENSP00000286301:p.Gln258fs					CSF1R_uc011dcd.2_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.Q258fs	p.Q258fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	967	-			258			Ig-like C2-type 3.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Frame_Shift_Del	DEL	ENST00000286301.3	37	c.772delC	CCDS4302.1																																																																																				0.478	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		-	149456956	G	-	149456956	7	5	230	1	0	1	0	1	0	0	0	0	3932	1357	47	0	2214	0	CSF1R	5	149456956	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	18160696	149456956	31458304	32	16161											
FABP6	2172	broad.mit.edu	37	chr5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagcatggctttcaccgGcaagttcgagatggagagtg	10	8	14	9	2	1	2	1	0	0	2	2	4	1	2	1	3	2	5	1	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:159656578G>A	ENST00000402432.3	+	1	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000393980.4_Missense_Mutation_p.G54D	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537																																					Colon(29;562 677 12756 16385 20992)	uc003lya.1																			2	Substitution - Missense(2)	p.G5D(2)|p.G54D(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(13-15)gGc>gAc		Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.							173	162	166					5																	159656578		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159656578G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"Fatty acid binding protein family"	3561	protein-coding gene	gene with protein product	"illeal lipid-binding protein", "ileal bile acid binding protein", "gastrotropin"	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.14G>A	5.37:g.159656578G>A	ENSP00000385433:p.Gly5Asp					FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D	p.G5D	NM_001445	NP_001436	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		0	142	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	5					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.14G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429828	0.83776	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.75938	-0.98;-0.98;-0.98	5.41	5.41	0.78517	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89944	0.4075	10	0.87932	D	0	-13.8827	16.6824	0.85296	0.0:0.0:1.0:0.0	.	5;54	P51161;P51161-2	FABP6_HUMAN;.	D	54;54;5	ENSP00000377549:G54D;ENSP00000377551:G54D;ENSP00000385433:G5D	ENSP00000377549:G54D	G	+	2	0	FABP6	159589156	1.000000	0.71417	0.910000	0.35882	0.821000	0.46438	7.492000	0.81482	2.520000	0.84964	0.561000	0.74099	GGC		0.537	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		A	159656578	G	A	159656578	3	1	230	1	0	0	0	0	1	0	0	0	5361	1203	42	3	171	3	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	10199622	159656578	21258682	33	16162											
PGBD1	84547	broad.mit.edu	37	chr6	28269185	28269186	+	Missense_Mutation	DNP	GT	GT	TA																															cacctagatcaaaaagataaGtttacaaagttgagacctct																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:28269185_28269186GT>TA	ENST00000405948.2	+	7	1974_1975	c.1554_1555GT>TA	c.(1552-1557)aaGTtt>aaTAtt	p.518_519KF>NI	PGBD1_ENST00000259883.3_Missense_Mutation_p.518_519KF>NI	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	518						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAAGATAAGTTTACAAAGTT	0.356																																						uc003nky.3																			0		p.D517N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1552-1557)aagttt>aaTAtt		Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.																																				SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269185_28269186GT>TA	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	Exception_encountered	6.37:g.28269185_28269186delinsTA	ENSP00000385213:p.K518_F519delinsNI					PGBD1_uc003nkz.3_Missense_Mutation_p.518_519KF>NI	p.518_519KF>NI	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	1974_1975	+			518					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	DNP	ENST00000405948.2	37	c.1554_1555GT>TA	CCDS4648.1																																																																																				0.356	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			TA	28269186	GT	TA	28269185	3	4	230	1	0	0	0	0	1	0	0	0	11780	1020	36	5	1576	5	PGBD1	6	28269185	Missense_Mutation	DNP	GT	TCGA-32-2495-01A-01D-1353-08		28269185	142845882	34	16163											
TRIM10	10107	broad.mit.edu	37	chr6	30126240	30126240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaataagagcactaaacCggcagatctccccagcaacc	14	6	6	15	1	2	2	1	0	1	2	3	2	2	2	4	1	4	3	4	1	5	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:30126240C>T	ENST00000449742.2	-	3	767	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	TRIM10_ENST00000376704.3_Missense_Mutation_p.R231Q	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	231					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AGCACTAAACCGGCAGATCTC	0.542																																						uc003npo.3																			0				ovary(1)	1						c.(691-693)cGg>cAg		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							253	282	271					6																	30126240		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30126240C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.692G>A	6.37:g.30126240C>T	ENSP00000397073:p.Arg231Gln					TRIM10_uc003npn.2_Missense_Mutation_p.R231Q	p.R231Q	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			2	768	-			231					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.692G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659122	0.47467	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.05139	3.49;3.49	5.68	4.81	0.61882	.	0.000000	0.49305	D	0.000141	T	0.08935	0.0221	L	0.58428	1.81	0.31834	N	0.624342	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.13737	-1.0498	10	0.21014	T	0.42	.	10.5158	0.44889	0.0:0.9112:0.0:0.0888	.	231;231	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	Q	231	ENSP00000397073:R231Q;ENSP00000365894:R231Q	ENSP00000365894:R231Q	R	-	2	0	TRIM10	30234219	0.000000	0.05858	0.996000	0.52242	0.026000	0.11368	-0.113000	0.10774	1.408000	0.46895	0.643000	0.83706	CGG		0.542	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			T	30126240	C	T	30126240	3	4	230	1	0	0	0	0	1	0	0	0	16483	652	23	2	861	2	TRIM10	6	30126240	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1857055	30126240	140988827	35	16164											
C6orf27	80737	broad.mit.edu	37	chr6	31742303	31742303	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggtacctggaggtttCgggggatgagttccaaagta	8	12	15	6	1	1	1	0	1	1	0	3	3	2	3	2	5	1	4	2	5	3	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:31742303C>A	ENST00000375688.4	-	5	911	c.711G>T	c.(709-711)ccG>ccT	p.P237P	VWA7_ENST00000447450.1_Silent_p.P237P|VWA7_ENST00000375686.3_Silent_p.P237P|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	237						extracellular region (GO:0005576)											CTGGAGGTTTCGGGGGATGAG	0.542																																						uc011dog.2																			0											c.(709-711)ccG>ccT		Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.							86	81	83					6																	31742303		1509	2709	4218	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31742303C>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.711G>T	6.37:g.31742303C>A						VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	p.P237P	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			4	949	-			237					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.711G>T	CCDS4721.2																																																																																				0.542	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		A	31742303	C	A	31742303	2	1	230	1	0	0	0	0	0	0	0	1	2362	871	31	5		5	C6orf27	6	31742303	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	1616063	31742303	139372764	36	16165											
TAP2	6891	broad.mit.edu	37	chr6	32797852	32797852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaacagcacaggctcctgCccaactgaaaccacctgtgc	12	5	9	15	0	0	2	0	1	0	1	1	3	1	2	4	1	6	2	4	1	3	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:32797852C>T	ENST00000452392.2	-	10	1823	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374897.2_Silent_p.G550G|TAP2_ENST00000374899.4_Silent_p.G550G			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CAGGCTCCTGCCCAACTGAAA	0.587																																						uc011dqf.1																			0											c.(1648-1650)ggG>ggA		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.							90	93	92					6																	32797852		1508	2709	4217	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797852C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1650G>A	6.37:g.32797852C>T						TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003occ.3_Silent_p.G550G|TAP2_uc003ocd.3_Silent_p.G550G	p.G550G	NM_018833	NP_061313	Q03519	TAP2_HUMAN			9	1772	-			550			ABC transporter.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1650G>A																																																																																					0.587	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		T	32797852	C	T	32797852	2	4	230	1	0	0	0	0	0	0	0	1	15548	726	26	3		3	TAP2	6	32797852	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	1055549	32797852	138317215	37	16166											
CRISP3	10321	broad.mit.edu	37	chr6	49700907	49700907	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgctaaaatatatacttaCgcaggacaatattggcaaac	18	9	6	8	2	0	0	0	0	0	0	0	1	0	1	0	2	4	3	0	2	10	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:49700907C>T	ENST00000393666.1	-	5	528		c.e5+1		CRISP3_ENST00000433368.2_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Splice_Site|CRISP3_ENST00000371159.4_Splice_Site			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATATACTTACGCAGGACAAT	0.299																																						uc021zai.1																			2	Unknown(2)	p.?(2)	lung(1)|kidney(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.e6+1		Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.							103	107	106					6																	49700907		2203	4298	6501	SO:0001630	splice_region_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49700907C>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.521+1G>A	6.37:g.49700907C>T						CRISP3_uc003ozs.3_Splice_Site_p.A187_splice	p.A197_splice	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	678	-	Lung NSC(77;0.0161)		174					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	ENST00000393666.1	37	c.590_splice		.	.	.	.	.	.	.	.	.	.	C	15.20	2.763998	0.49574	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3304	0.66553	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49808866	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	3.148000	0.50647	2.526000	0.85167	0.561000	0.74099	.		0.299	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Intron	T	49700907	C	T	49700907	5	4	230	1	0	0	0	0	0	0	1	0	3881	550	19	1	227	1	CRISP3	6	49700907	Splice_Site	SNP	C	TCGA-32-2495-01A-01D-1353-08	16903055	49700907	121414160	38	16167											
NT5E	4907	broad.mit.edu	37	chr6	86203692	86203692	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttaatatttctttcactTtgggcagtgatctttgtttt	6	23	6	6	0	4	1	1	1	3	0	4	1	4	1	0	1	0	2	0	1	2	9			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:86203692T>C	ENST00000257770.3	+	9	1744	c.1695T>C	c.(1693-1695)ctT>ctC	p.L565L	NT5E_ENST00000369651.3_Silent_p.L515L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	565					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTCTTTCACTTTGGGCAGTGA	0.358																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1693-1695)ctT>ctC		Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	Pentoxifylline(DB00806)						68	73	71					6																	86203692		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86203692T>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1695T>C	6.37:g.86203692T>C						NT5E_uc010kbr.3_Silent_p.L515L	p.L565L	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	2251	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	565					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1695T>C	CCDS5002.1																																																																																				0.358	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			C	86203692	T	C	86203692	2	2	230	1	0	0	0	0	0	0	0	1	10693	1828	64	4		4	NT5E	6	86203692	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	36502785	86203692	84911375	39	16168											
MAP3K5	4217	broad.mit.edu	37	chr6	137041637	137041637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcacagtagaggatgatgTtgttggccatgctgaaactt	11	13	11	6	0	1	3	1	2	0	1	1	4	1	4	1	2	2	4	1	2	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:137041637T>C	ENST00000359015.4	-	2	899	c.539A>G	c.(538-540)aAc>aGc	p.N180S		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGATGATGTTGTTGGCCAT	0.473																																						uc003qhc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(538-540)aAc>aGc		Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.							224	184	198					6																	137041637		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137041637T>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.539A>G	6.37:g.137041637T>C	ENSP00000351908:p.Asn180Ser					MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S	p.N180S	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	1	900	-	Colorectal(23;0.24)		180					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.539A>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825311	0.90955	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.13657	2.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.992	T	0.25467	-1.0131	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	260;25;180	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	S	180;260	ENSP00000351908:N180S	ENSP00000351908:N180S	N	-	2	0	MAP3K5	137083330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.270000	0.75569	0.482000	0.46254	AAC		0.473	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			C	137041637	T	C	137041637	3	2	230	1	0	0	0	0	1	0	0	0	9253	1725	60	4	3701	4	MAP3K5	6	137041637	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	50837945	137041637	34073430	40	16169											
GLI3	2737	broad.mit.edu	37	chr7	42005081	42005081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgcgggtggacgaccAtgccgttgcagaacccaaag	9	7	14	11	3	1	1	0	0	1	1	1	3	1	2	3	3	4	3	3	3	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:42005081A>G	ENST00000395925.3	-	15	3674	c.3590T>C	c.(3589-3591)aTg>aCg	p.M1197T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1197					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGGACGACCATGCCGTTGCA	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.2																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3589-3591)aTg>aCg		Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.							58	69	65					7																	42005081		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005081A>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3590T>C	7.37:g.42005081A>G	ENSP00000379258:p.Met1197Thr					GLI3_uc011kbg.2_Missense_Mutation_p.M1138T	p.M1197T	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	3681	-			1197					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3590T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584797	0.28268	.	.	ENSG00000106571	ENST00000395925	T	0.14391	2.51	5.57	1.76	0.24704	.	0.459579	0.29172	N	0.012921	T	0.05686	0.0149	N	0.08118	0	0.45108	D	0.998122	B	0.02656	0.0	B	0.04013	0.001	T	0.40590	-0.9555	10	0.19590	T	0.45	.	7.0255	0.24938	0.7418:0.1252:0.133:0.0	.	1197	P10071	GLI3_HUMAN	T	1197	ENSP00000379258:M1197T	ENSP00000379258:M1197T	M	-	2	0	GLI3	41971606	0.800000	0.28916	0.001000	0.08648	0.014000	0.08584	1.774000	0.38573	0.054000	0.16065	0.460000	0.39030	ATG		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		G	42005081	A	G	42005081	3	3	230	1	0	0	0	0	1	0	0	0	6439	217	8	4	1156	4	GLI3	7	42005081	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		42005081	117133582	41	16170											
LMTK2	22853	broad.mit.edu	37	chr7	97822800	97822800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtggatgtccacgaagCgctactggactctttaggat	9	11	12	9	2	2	0	1	0	1	0	3	4	3	3	1	3	2	1	1	3	3	3	rs199974736	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:97822800C>T	ENST00000297293.5	+	11	3316	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1008					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTCCACGAAGCGCTACTGGAC	0.587													C|||	2	0.000399361	0	0	5008	,	,		16085	0		0	False		,,,				2504	0.002					uc003upd.2																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3022-3024)gCg>gTg		Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.							99	107	104					7																	97822800		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822800C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3023C>T	7.37:g.97822800C>T	ENSP00000297293:p.Ala1008Val						p.A1008V	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			10	3316	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1008					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3023C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	3.684	-0.064859	0.07273	.	.	ENSG00000164715	ENST00000297293	T	0.75589	-0.95	5.03	-0.984	0.10259	.	0.580697	0.17462	N	0.173418	T	0.52757	0.1754	N	0.17674	0.51	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32134	-0.9918	10	0.17832	T	0.49	.	9.1738	0.37098	0.0:0.4412:0.0:0.5588	.	1008	Q8IWU2	LMTK2_HUMAN	V	1008	ENSP00000297293:A1008V	ENSP00000297293:A1008V	A	+	2	0	LMTK2	97660736	0.636000	0.27207	0.000000	0.03702	0.010000	0.07245	1.140000	0.31516	-0.343000	0.08351	-0.142000	0.14014	GCG		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		T	97822800	C	T	97822800	3	4	230	1	0	0	0	0	1	0	0	0	8859	768	27	1	3065	1	LMTK2	7	97822800	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	55817719	97822800	61315863	42	16171											
LAMB1	3912	broad.mit.edu	37	chr7	107566693	107566693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatatattctgcctcccCggagttttgggcagctttcc	6	15	8	12	1	2	0	1	0	1	0	4	1	4	1	4	2	2	3	4	2	3	7	rs143093758		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107566693C>A	ENST00000222399.6	-	32	5229	c.4999G>T	c.(4999-5001)Ggg>Tgg	p.G1667W	LAMB1_ENST00000393561.1_Missense_Mutation_p.G1691W	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1667	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCTGCCTCCCCGGAGTTTTGG	0.428																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(5071-5073)Ggg>Tgg		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122	117	119					7																	107566693		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107566693C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4999G>T	7.37:g.107566693C>A	ENSP00000222399:p.Gly1667Trp					LAMB1_uc003vew.2_Missense_Mutation_p.G1667W	p.G1691W	NM_002291	NP_002282	P07942	LAMB1_HUMAN			29	5232	-			1667			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.5071G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635448	0.67130	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32515	1.45;1.45	5.83	4.9	0.64082	.	.	.	.	.	T	0.30293	0.0760	N	0.22421	0.69	0.35297	D	0.782666	P;D;P	0.61697	0.841;0.99;0.841	P;P;P	0.49387	0.473;0.609;0.473	T	0.37911	-0.9685	9	0.66056	D	0.02	.	14.9409	0.70992	0.0:0.739:0.261:0.0	.	1667;1691;964	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	W	1691;1667	ENSP00000377191:G1691W;ENSP00000222399:G1667W	ENSP00000222399:G1667W	G	-	1	0	LAMB1	107353929	0.001000	0.12720	0.918000	0.36340	0.990000	0.78478	0.319000	0.19522	2.749000	0.94314	0.650000	0.86243	GGG		0.428	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107566693	C	A	107566693	3	1	230	1	0	0	0	0	1	0	0	0	8610	652	23	5	373	5	LAMB1	7	107566693	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	9743893	107566693	51571970	43	16172											
LAMB4	22798	broad.mit.edu	37	chr7	107703420	107703420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccatgggactcacgccGgaagcatggcaggagcatcc	10	5	12	14	2	1	0	1	0	0	0	3	3	3	3	3	4	2	3	3	4	1	0	rs144037364		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107703420G>A	ENST00000388781.3	-	23	3164	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	LAMB4_ENST00000388780.3_Silent_p.S1027S|LAMB4_ENST00000205386.4_Silent_p.S1027S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1027	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GACTCACGCCGGAAGCATGGC	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		21793	0		0	False		,,,				2504	0					uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3079-3081)tcC>tcT		Homo sapiens laminin, beta 4 (LAMB4), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	47	44	45		3081	-10.2	0	7	dbSNP_134	45	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous	LAMB4	NM_007356.2		0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769		1027/1762	107703420	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107703420G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3081C>T	7.37:g.107703420G>A						LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR	p.S1027S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			22	3165	-			1027			Laminin EGF-like 11.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3081C>T	CCDS34732.1																																																																																				0.517	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		A	107703420	G	A	107703420	2	1	230	1	0	0	0	0	0	0	0	1	8613	1103	39	2		2	LAMB4	7	107703420	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	136727	107703420	51435243	44	16173											
MET	4233	broad.mit.edu	37	chr7	116340174	116340174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacattcttttcggggtgTtcgcacaaagcaagccagat	11	11	10	9	2	1	2	0	1	1	1	3	2	1	2	1	2	2	3	1	2	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340174T>C	ENST00000318493.6	+	2	1223	c.1036T>C	c.(1036-1038)Ttc>Ctc	p.F346L	MET_ENST00000436117.2_Missense_Mutation_p.F346L|MET_ENST00000397752.3_Missense_Mutation_p.F346L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCGGGGTGTTCGCACAAAG	0.468			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1036-1038)Ttc>Ctc		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.							63	61	61					7																	116340174		1953	4142	6095	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340174T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1036T>C	7.37:g.116340174T>C	ENSP00000317272:p.Phe346Leu					MET_uc022akk.1_Missense_Mutation_p.F346L|MET_uc010lkh.3_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.2_Missense_Mutation_p.F346L|MET_uc011knf.2_Missense_Mutation_p.F346L|MET_uc011kne.2_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.2_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.3_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L	p.F346L	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		1	1223	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	346			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1036T>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431556	0.83776	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.22743	1.94;1.94;1.94	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.996;0.996	T	0.68667	-0.5348	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	346;346;346;346;346;346;346;346;346;346;346;346;346	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	346	ENSP00000380860:F346L;ENSP00000317272:F346L;ENSP00000410980:F346L	ENSP00000317272:F346L	F	+	1	0	MET	116127410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.636000	0.83301	2.317000	0.78254	0.460000	0.39030	TTC		0.468	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116340174	T	C	116340174	3	2	230	1	0	0	0	0	1	0	0	0	9485	1725	60	4	1038	4	MET	7	116340174	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	8636754	116340174	42798489	45	16174											
MET	4233	broad.mit.edu	37	chr7	116340270	116340270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttcttcaacaagatcGtcaacaaaaacaatgtgaga	18	8	6	9	2	3	2	2	1	1	2	4	4	3	2	0	0	3	0	0	0	6	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340270G>A	ENST00000318493.6	+	2	1319	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	MET_ENST00000436117.2_Missense_Mutation_p.V378I|MET_ENST00000397752.3_Missense_Mutation_p.V378I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAACAAGATCGTCAACAAAAA	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1132-1134)Gtc>Atc		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.							104	96	99					7																	116340270		1925	4140	6065	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340270G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1132G>A	7.37:g.116340270G>A	ENSP00000317272:p.Val378Ile					MET_uc022akk.1_Missense_Mutation_p.V378I|MET_uc010lkh.3_Missense_Mutation_p.V378I|MET_uc011knc.1_Missense_Mutation_p.V378I|MET_uc011knd.2_Missense_Mutation_p.V378I|MET_uc011knf.2_Missense_Mutation_p.V378I|MET_uc011kne.2_Missense_Mutation_p.V378I|MET_uc011kng.1_Missense_Mutation_p.V378I|MET_uc011knh.1_Missense_Mutation_p.V378I|MET_uc011kni.2_Missense_Mutation_p.V378I|MET_uc003vii.1_Missense_Mutation_p.V397I|MET_uc010lkg.3_Missense_Mutation_p.V378I|MET_uc011kmz.1_Missense_Mutation_p.V378I|MET_uc011kna.1_Missense_Mutation_p.V378I|MET_uc011knb.1_Missense_Mutation_p.V378I	p.V378I	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		1	1319	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	378			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1132G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715979	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04406	3.63;3.63;3.63	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.217393	0.48286	D	0.000198	T	0.14960	0.0361	L	0.56396	1.775	0.80722	D	1	P;B;D;B;B;B;B;B;P;B;B;D;D	0.61697	0.916;0.43;0.987;0.032;0.032;0.032;0.057;0.057;0.945;0.276;0.032;0.99;0.99	B;B;P;B;B;B;B;B;P;B;B;P;P	0.54460	0.298;0.116;0.713;0.021;0.021;0.016;0.031;0.031;0.476;0.104;0.025;0.753;0.753	T	0.00173	-1.1957	10	0.35671	T	0.21	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	378;378;378;378;378;378;378;378;378;378;378;378;378	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	I	378	ENSP00000380860:V378I;ENSP00000317272:V378I;ENSP00000410980:V378I	ENSP00000317272:V378I	V	+	1	0	MET	116127506	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	6.696000	0.74598	2.873000	0.98535	0.563000	0.77884	GTC		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116340270	G	A	116340270	3	1	230	1	0	0	0	0	1	0	0	0	9485	1145	40	1	1134	1	MET	7	116340270	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	96	116340270	42798393	46	16175											
KCNH2	3757	broad.mit.edu	37	chr7	150645539	150645539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgcctcacccttgtcCgtgcgcctgcggaaggacaa	6	7	10	18	4	1	0	1	0	0	0	3	2	3	2	6	2	2	0	6	2	2	1	rs376008424		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:150645539C>T	ENST00000262186.5	-	11	3086	c.2685G>A	c.(2683-2685)acG>acA	p.T895T	KCNH2_ENST00000330883.4_Silent_p.T555T|KCNH2_ENST00000392968.2_Silent_p.T799T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	895					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	cacccTTGTCCGTGCGCCTGC	0.672																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2683-2685)acG>acA		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						31	31	31					7																	150645539		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150645539C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2685G>A	7.37:g.150645539C>T						KCNH2_uc003wib.3_Silent_p.T555T|KCNH2_uc011kux.2_Silent_p.T799T	p.T895T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	3086	-	all_neural(206;0.219)		895					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.2685G>A	CCDS5910.1																																																																																				0.672	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		T	150645539	C	T	150645539	2	4	230	1	0	0	0	0	0	0	0	1	8032	639	23	2		2	KCNH2	7	150645539	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	34305269	150645539	8493124	47	16176											
NEFM	4741	broad.mit.edu	37	chr8	24775127	24775127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagctaaagaggaaaagAaagtggaggaaaagagtgag	20	3	15	3	1	0	4	0	1	0	3	0	8	0	7	1	3	1	1	1	3	8	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:24775127A>G	ENST00000221166.5	+	3	2541	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.K211E|NEFM_ENST00000518131.1_Missense_Mutation_p.K587E|NEFM_ENST00000437366.2_Missense_Mutation_p.K587E|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	587	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaaaagaaagtggagga	0.493																																						uc003xed.4																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1759-1761)Aaa>Gaa		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.							35	40	38					8																	24775127		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775127A>G	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1759A>G	8.37:g.24775127A>G	ENSP00000221166:p.Lys587Glu					NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.3_Missense_Mutation_p.K211E	p.K587E	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	2	1792	+		Prostate(55;0.157)	587			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1759A>G	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	4.150	0.026237	0.08054	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94232	-1.67;-1.6;-1.71;-3.38	3.89	2.71	0.32032	.	0.332477	0.22106	N	0.064557	D	0.87873	0.6287	M	0.63843	1.955	0.30011	N	0.815203	B;B	0.21452	0.001;0.056	B;B	0.12837	0.001;0.008	T	0.73279	-0.4033	10	0.02654	T	1	.	6.6578	0.22996	0.7952:0.0:0.2048:0.0	.	587;587	E7EMV2;P07197	.;NFM_HUMAN	E	587;587;587;211	ENSP00000221166:K587E;ENSP00000427872:K587E;ENSP00000410137:K587E;ENSP00000412295:K211E	ENSP00000221166:K587E	K	+	1	0	NEFM	24831032	1.000000	0.71417	0.954000	0.39281	0.716000	0.41182	1.779000	0.38624	0.625000	0.30304	0.260000	0.18958	AAA		0.493	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		G	24775127	A	G	24775127	3	3	230	1	0	0	0	0	1	0	0	0	10316	247	9	4	1769	4	NEFM	8	24775127	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		24775127	121588895	48	16177											
UBR5	51366	broad.mit.edu	37	chr8	103297923	103297923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttgctagcttccaaagCagctgctgcagctgcagcac	8	8	12	13	1	0	0	0	0	0	0	1	0	1	0	1	1	9	10	1	1	2	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:103297923C>G	ENST00000520539.1	-	39	5908	c.5302G>C	c.(5302-5304)Gct>Cct	p.A1768P	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768P|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCCAAAGCAGCTGCTGCA	0.468																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)Gct>Cct		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							71	68	69					8																	103297923		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297923C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5302G>C	8.37:g.103297923C>G	ENSP00000429084:p.Ala1768Pro					UBR5_uc003yks.2_Missense_Mutation_p.A1768P	p.A1768P	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5757	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5302G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985962	0.93044	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.58973	-0.7541	10	0.49607	T	0.09	.	19.8316	0.96638	0.0:1.0:0.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	P	1768;1768;1762	ENSP00000429084:A1768P;ENSP00000220959:A1768P;ENSP00000427819:A1762P	ENSP00000220959:A1768P	A	-	1	0	UBR5	103367099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.687000	0.91594	0.563000	0.77884	GCT		0.468	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103297923	C	G	103297923	3	3	230	1	0	0	0	0	1	0	0	0	16902	710	25	5	3181	5	UBR5	8	103297923	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	78522796	103297923	43066099	49	16178											
CSMD3	114788	broad.mit.edu	37	chr8	113420584	113420584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccttagctgttattggTccaactgaagtaaatcgaat	13	13	7	8	1	0	1	0	1	0	0	3	2	2	1	2	1	2	3	2	1	8	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:113420584T>C	ENST00000297405.5	-	34	5812	c.5568A>G	c.(5566-5568)ggA>ggG	p.G1856G	CSMD3_ENST00000455883.2_Silent_p.G1752G|CSMD3_ENST00000343508.3_Silent_p.G1816G|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1856	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTTATTGGTCCAACTGAAG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5566-5568)ggA>ggG		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							177	174	175					8																	113420584		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113420584T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5568A>G	8.37:g.113420584T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.G1816G|CSMD3_uc011lhx.2_Silent_p.G1752G	p.G1856G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			33	5727	-			1856			CUB 10.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5568A>G	CCDS6315.1																																																																																				0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113420584	T	C	113420584	2	2	230	1	0	0	0	0	0	0	0	1	3946	1654	58	4		4	CSMD3	8	113420584	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	10122661	113420584	32943438	50	16179											
BICD2	23299	broad.mit.edu	37	chr9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgcggtccacggctGcctgcaggtgcttgatctgg	3	10	16	12	3	1	1	0	1	1	0	2	1	2	1	3	5	4	3	3	5	0	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr9:95480999G>T	ENST00000375512.3	-	5	1995	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_ENST00000356884.6_Missense_Mutation_p.A643E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	643					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622																																						uc004asp.1																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1927-1929)gCa>gAa		Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.							131	129	129					9																	95480999		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95480999G>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1928C>A	9.37:g.95480999G>T	ENSP00000364662:p.Ala643Glu					BICD2_uc004aso.1_Missense_Mutation_p.A643E	p.A643E	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN			4	1985	-			643					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1928C>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722012	0.30503	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.41400	1.0;1.0	5.39	4.49	0.54785	.	0.385347	0.30036	N	0.010567	T	0.32224	0.0822	L	0.36672	1.1	0.36659	D	0.877849	B;B	0.30146	0.228;0.27	B;B	0.34931	0.121;0.192	T	0.17501	-1.0367	10	0.08381	T	0.77	-5.8932	11.9756	0.53089	0.0847:0.0:0.9153:0.0	.	643;643	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	643	ENSP00000349351:A643E;ENSP00000364662:A643E	ENSP00000349351:A643E	A	-	2	0	BICD2	94520820	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	5.105000	0.64591	1.429000	0.47314	0.561000	0.74099	GCA		0.622	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		T	95480999	G	T	95480999	3	4	230	1	0	0	0	0	1	0	0	0	1429	1319	46	5	661	5	BICD2	9	95480999	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		95480999	45732432	51	16180											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486209	37486209	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctcttttgctttttagAgcctcccgagaagccatctg	9	14	7	11	1	2	2	0	0	2	2	4	3	3	2	3	0	3	1	3	0	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:37486209A>G	ENST00000602533.1	+	28	2546	c.2447A>G	c.(2446-2448)gAg>gGg	p.E816G	ANKRD30A_ENST00000374660.1_Splice_Site_p.E935G|ANKRD30A_ENST00000361713.1_Splice_Site_p.E816G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	872					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTTTTAGAGCCTCCCGAG	0.338																																						uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.e28-1		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							212	171	184					10																	37486209		1823	4092	5915	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486209A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2447-1A>G	10.37:g.37486209A>G						ANKRD30A_uc001iza.1_Splice_Site_p.E816_splice	p.E816_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			28	2546	+			872					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2447_splice		.	.	.	.	.	.	.	.	.	.	.	6.873	0.530425	0.13127	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07444	3.19;3.19	1.36	-2.73	0.05950	.	.	.	.	.	T	0.04861	0.0131	L	0.41824	1.3	0.09310	N	1	B	0.31931	0.347	B	0.23150	0.044	T	0.35276	-0.9795	8	.	.	.	.	2.327	0.04225	0.4746:0.3029:0.2225:0.0	.	872	Q9BXX3	AN30A_HUMAN	G	816;935	ENSP00000354432:E816G;ENSP00000363792:E935G	.	E	+	2	0	ANKRD30A	37526215	0.758000	0.28405	0.049000	0.19019	0.008000	0.06430	1.220000	0.32491	-0.999000	0.03442	-1.516000	0.00938	GAG		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Missense_Mutation	G	37486209	A	G	37486209	5	3	230	1	0	0	0	0	0	0	1	0	658	318	11	4	2557	4	ANKRD30A	10	37486209	Splice_Site	SNP	A	TCGA-32-2495-01A-01D-1353-08		37486209	98048538	52	16181											
ARID5B	84159	broad.mit.edu	37	chr10	63816874	63816874	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatattttcccttttccAggtgaaatgtgaggccaggt	8	15	11	7	0	0	2	0	2	0	0	2	2	2	2	3	4	0	1	3	4	3	6			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:63816874A>C	ENST00000279873.7	+	6	1256		c.e6-1		ARID5B_ENST00000309334.5_Splice_Site	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)						adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCCCTTTTCCAGGTGAAATGT	0.448																																						uc001jlt.2																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.e6-2		Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.							39	40	40					10																	63816874		2203	4300	6503	SO:0001630	splice_region_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63816874A>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.847-1A>C	10.37:g.63816874A>C						ARID5B_uc001jlu.2_Splice_Site_p.V40_splice	p.V283_splice	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			6	1303	+	Prostate(12;0.016)|all_hematologic(501;0.215)		283					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Splice_Site	SNP	ENST00000279873.7	37	c.847_splice	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026158	0.75390	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2676	0.82597	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID5B	63486880	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.381000	0.79718	2.243000	0.73865	0.533000	0.62120	.		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	Intron	C	63816874	A	C	63816874	5	2	230	1	0	0	0	0	0	0	1	0	922	202	7	5	867	5	ARID5B	10	63816874	Splice_Site	SNP	A	TCGA-32-2495-01A-01D-1353-08	26330665	63816874	71717873	53	16182											
PTEN	5728	broad.mit.edu	37	chr10	89717664	89717664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatatattcctccaattcagGacccacacgacgggaagaca	14	7	8	12	2	1	1	1	0	0	1	3	5	3	3	3	2	0	0	3	2	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:89717664G>A	ENST00000371953.3	+	7	2046	c.689G>A	c.(688-690)gGa>gAa	p.G230E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	230	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCAATTCAGGACCCACACGA	0.428		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		49	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(688-690)gGa>gAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							154	132	139					10																	89717664		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717664G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.689G>A	10.37:g.89717664G>A	ENSP00000361021:p.Gly230Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G230E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1721	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	230			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.689G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788609	0.16258	.	.	ENSG00000171862	ENST00000371953	D	0.84800	-1.9	5.33	5.33	0.75918	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.355193	0.31301	N	0.007893	D	0.82273	0.5001	L	0.43152	1.355	0.45648	D	0.998579	B	0.27910	0.193	B	0.31390	0.129	T	0.77797	-0.2453	9	.	.	.	-11.5077	19.0178	0.92901	0.0:0.0:1.0:0.0	.	230	P60484	PTEN_HUMAN	E	230	ENSP00000361021:G230E	.	G	+	2	0	PTEN	89707644	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.732000	0.62029	2.483000	0.83821	0.585000	0.79938	GGA		0.428	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89717664	G	A	89717664	3	1	230	1	0	0	0	0	1	0	0	0	12738	1174	41	3	715	3	PTEN	10	89717664	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	25900790	89717664	45817083	54	16183											
PDCD4	27250	broad.mit.edu	37	chr10	112655708	112655708	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatttcattgttgtagggTtatgagagaatttacaatga	13	16	10	2	0	1	3	1	2	0	1	1	4	1	3	0	1	1	4	0	1	6	8			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:112655708T>C	ENST00000280154.7	+	11	1486	c.1212T>C	c.(1210-1212)ggT>ggC	p.G404G	PDCD4_ENST00000393104.2_Silent_p.G393G|MIR4680_ENST00000580906.1_RNA	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	404	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTTGTAGGGTTATGAGAGAA	0.353																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(1210-1212)ggT>ggC		Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.							89	91	90					10																	112655708		2202	4300	6502	SO:0001819	synonymous_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112655708T>C	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1212T>C	10.37:g.112655708T>C						PDCD4_uc001kzg.3_Silent_p.G393G|PDCD4_uc010qre.2_Silent_p.G390G|PDCD4_uc021pye.1_5'Flank	p.G404G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	10	1498	+		Breast(234;0.0848)|Lung NSC(174;0.238)	404			MI 2.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	c.1212T>C	CCDS7567.1																																																																																				0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		C	112655708	T	C	112655708	2	2	230	1	0	0	0	0	0	0	0	1	11621	1712	60	4		4	PDCD4	10	112655708	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	22938044	112655708	22879039	55	16184											
USP47	55031	broad.mit.edu	37	chr11	11969542	11969542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcagctttcaaacaaCatttagagccctttgttgga	10	13	8	10	0	2	1	1	0	1	1	2	2	2	2	1	2	4	3	1	2	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:11969542C>T	ENST00000399455.2	+	22	3322	c.3202C>T	c.(3202-3204)Cat>Tat	p.H1068Y	USP47_ENST00000527733.1_Missense_Mutation_p.H1048Y|USP47_ENST00000339865.5_Missense_Mutation_p.H980Y|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1068					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTCAAACAACATTTAGAGCC	0.398																																						uc001mjs.3																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(3142-3144)Cat>Tat		Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.							156	147	149					11																	11969542		1838	4079	5917	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11969542C>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3202C>T	11.37:g.11969542C>T	ENSP00000382382:p.His1068Tyr					USP47_uc001mjr.3_Missense_Mutation_p.H980Y|USP47_uc009ygi.3_5'Flank	p.H1048Y	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	20	3905	+			1068					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3142C>T		.	.	.	.	.	.	.	.	.	.	C	15.57	2.873587	0.51695	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94613	-3.47;-3.47;-3.47	5.46	5.46	0.80206	.	0.184675	0.64402	D	0.000018	D	0.90096	0.6906	L	0.27053	0.805	0.80722	D	1	B;B	0.25105	0.072;0.118	B;B	0.25140	0.026;0.058	D	0.86558	0.1839	10	0.13108	T	0.6	.	18.9109	0.92485	0.0:1.0:0.0:0.0	.	1048;980	E9PM46;Q96K76-2	.;.	Y	980;1048;1068	ENSP00000339957:H980Y;ENSP00000433146:H1048Y;ENSP00000382382:H1068Y	ENSP00000339957:H980Y	H	+	1	0	USP47	11926118	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.873000	0.63057	2.534000	0.85438	0.591000	0.81541	CAT		0.398	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		T	11969542	C	T	11969542	3	4	230	1	0	0	0	0	1	0	0	0	17075	478	17	3	3016	3	USP47	11	11969542	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		11969542	123036974	56	16185											
RTN3	10313	broad.mit.edu	37	chr11	63487657	63487657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagaattggtcagtgaCtctgagctgcatcaagatca	12	12	10	7	0	4	5	3	3	1	2	4	5	4	5	0	1	2	2	0	1	3	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:63487657C>T	ENST00000377819.5	+	3	1837	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.D449D|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.D542D	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	561					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGTCAGTGACTCTGAGCTGC	0.408																																						uc001nxq.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1681-1683)gaC>gaT		Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.							69	70	70					11																	63487657		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487657C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1683C>T	11.37:g.63487657C>T						RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.D449D|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.D542D|RTN3_uc001nxo.3_Intron	p.D561D	NM_201428	NP_958831	O95197	RTN3_HUMAN			2	1870	+			561					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.1683C>T	CCDS58141.1																																																																																				0.408	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		T	63487657	C	T	63487657	2	4	230	1	0	0	0	0	0	0	0	1	13727	564	20	3		3	RTN3	11	63487657	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	51518115	63487657	71518859	57	16186											
SLC22A20	440044	broad.mit.edu	37	chr11	64990066	64990067	+	RNA	DNP	AG	AG	GT																															aggggaaaggctgaccaaggAggtaagcgagctgggaggaa																								rs375424754		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:64990066_64990067AG>GT	ENST00000525437.1	+	0	964_965							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGACCAAGGAGGTAAGCGAGC	0.545																																						uc021qlg.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						c.e4+1		Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.																																						440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64990066_64990067AG>GT	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"Solute carriers"	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615	Exception_encountered	11.37:g.64990066_64990067delinsGT						SLC22A20_uc021qlh.1_Splice_Site_p.E94_splice	p.G255_splice	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			4	796	+			0					B9EJB2|Q6ZN88	Missense_Mutation	DNP	ENST00000525437.1	37	c.763_splice																																																																																					0.545	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		GT	64990067	AG	GT	64990066	1	3	230	0	1	0	0	0	0	0	0	0	14451	318	11	4		4	SLC22A20	11	64990066	RNA	DNP	AG	TCGA-32-2495-01A-01D-1353-08	1502409	64990066	70016450	58	16187											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088799	65088799	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctcagccttccccacagGagggagggagtgtggacatc	8	6	13	14	0	1	0	1	0	0	0	3	4	2	4	5	4	1	0	5	4	0	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:65088799G>T	ENST00000544348.1	+	2	1036	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CDC42EP2_ENST00000279249.2_Nonsense_Mutation_p.E144*|CDC42EP2_ENST00000533419.1_Nonsense_Mutation_p.E144*			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	144					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						TTCCCCACAGGAGGGAGGGAG	0.667																																						uc021qli.1																			0				lung(1)	1						c.(430-432)Gag>Tag		Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.							64	52	56					11																	65088799		2201	4297	6498	SO:0001587	stop_gained	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088799G>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.430G>T	11.37:g.65088799G>T	ENSP00000442534:p.Glu144*					CDC42EP2_uc001odl.3_Nonsense_Mutation_p.E144*	p.E144*	NM_006779	NP_006770	O14613	BORG1_HUMAN			0	430	+			144					B2RD85|Q9UNS0	Nonsense_Mutation	SNP	ENST00000544348.1	37	c.430G>T	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	G	38	6.642158	0.97726	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	.	.	.	5.23	5.23	0.72850	.	4.194120	0.00481	N	0.000140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	0.5316	9.6621	0.39960	0.0918:0.0:0.9082:0.0	.	.	.	.	X	144	.	ENSP00000279249:E144X	E	+	1	0	CDC42EP2	64845375	0.937000	0.31787	1.000000	0.80357	0.577000	0.36160	2.364000	0.44187	2.720000	0.93068	0.591000	0.81541	GAG		0.667	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		T	65088799	G	T	65088799	4	4	230	1	0	0	0	0	0	1	0	0	3076	1175	41	5	432	5	CDC42EP2	11	65088799	Nonsense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	98733	65088799	69917717	59	16188											
C1S	716	broad.mit.edu	37	chr12	7177423	7177423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgtgtttattcatcCgggatggaagctgctggaag	9	12	14	6	1	1	1	1	1	0	0	2	4	2	4	1	3	3	4	1	3	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:7177423C>T	ENST00000406697.1	+	15	2163	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C1S_ENST00000360817.5_Missense_Mutation_p.P512L|C1S_ENST00000328916.3_Missense_Mutation_p.P512L|C1S_ENST00000402681.3_Missense_Mutation_p.P345L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	512	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P512L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTATTCATCCGGGATGGAAG	0.512																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.3																			1	Substitution - Missense(1)	p.P512L(2)	lung(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1534-1536)cCg>cTg		Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						57	55	56					12																	7177423		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177423C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1535C>T	12.37:g.7177423C>T	ENSP00000385035:p.Pro512Leu					C1S_uc001qsk.3_Missense_Mutation_p.P512L|C1S_uc001qsl.3_Missense_Mutation_p.P512L|C1S_uc009zfr.3_Missense_Mutation_p.P345L|C1S_uc009zfs.3_Non-coding_Transcript	p.P512L	NM_201442	NP_958850	P09871	C1S_HUMAN			14	2254	+			512			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1535C>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304127	0.81136	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.16	4.23	0.50019	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000750	D	0.90714	0.7086	M	0.90082	3.085	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	D	0.92377	0.5910	10	0.87932	D	0	.	15.2043	0.73165	0.141:0.859:0.0:0.0	.	512	P09871	C1S_HUMAN	L	512;512;512;506;345	ENSP00000385035:P512L;ENSP00000328173:P512L;ENSP00000354057:P512L;ENSP00000384171:P345L	ENSP00000328173:P512L	P	+	2	0	C1S	7047684	0.998000	0.40836	0.940000	0.37924	0.816000	0.46133	4.126000	0.57937	2.676000	0.91093	0.561000	0.74099	CCG		0.512	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		T	7177423	C	T	7177423	3	4	230	1	0	0	0	0	1	0	0	0	1974	652	23	2	1577	2	C1S	12	7177423	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		7177423	126674472	60	16189											
C12orf63	144535	broad.mit.edu	37	chr12	97087506	97087506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttctcctgataggttctgCctctccttgcattgtatcaa	6	18	6	11	0	4	1	1	1	3	0	6	1	4	1	3	1	2	3	3	1	3	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:97087506C>T	ENST00000524981.4	+	45	6294	c.6271C>T	c.(6271-6273)Cct>Tct	p.P2091S				Q96N23	CL055_HUMAN		0																	ATAGGTTCTGCCTCTCCTTGC	0.289																																						uc021rcc.1																			0		p.L515L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1546-1548)Cct>Tct		RecName: Full=Putative uncharacterized protein C12orf63;							134	132	132					12																	97087506		2202	4298	6500	SO:0001583	missense	374467							g.chr12:97087506C>T																												ENST00000524981.4:c.6271C>T	12.37:g.97087506C>T	ENSP00000431759:p.Pro2091Ser						p.P516S			Q6ZTY8	CL063_HUMAN			11	1624	+			516						Missense_Mutation	SNP	ENST00000524981.4	37	c.1546C>T		.	.	.	.	.	.	.	.	.	.	C	16.91	3.253335	0.59212	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.97	5.97	0.96955	.	0.060696	0.64402	D	0.000003	D	0.84047	0.5386	.	.	.	0.45995	D	0.998801	D	0.89917	1.0	D	0.97110	1.0	D	0.84743	0.0752	8	0.87932	D	0	-15.4174	20.428	0.99075	0.0:1.0:0.0:0.0	.	516	Q6ZTY8	CL063_HUMAN	S	2091;516	.	ENSP00000345466:P516S	P	+	1	0	C12orf63	95611637	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	5.090000	0.64498	2.837000	0.97791	0.655000	0.94253	CCT		0.289	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			T	97087506	C	T	97087506	3	4	230	1	0	0	0	0	1	0	0	0	1706	739	26	3	1588	3	C12orf63	12	97087506	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	89910083	97087506	36764389	61	16190											
SELPLG	6404	broad.mit.edu	37	chr12	109017719	109017719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctggttgagtggtcTgtatctccatagctgctgaa	6	14	13	8	0	2	2	0	2	2	0	3	2	2	2	1	3	3	6	1	3	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:109017719T>C	ENST00000550948.1	-	2	589	c.365A>G	c.(364-366)cAg>cGg	p.Q122R	SELPLG_ENST00000228463.6_Missense_Mutation_p.Q138R|SELPLG_ENST00000388962.3_Missense_Mutation_p.Q122R			Q14242	SELPL_HUMAN	selectin P ligand	122	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TTGAGTGGTCTGTATCTCCAT	0.602																																						uc010sxe.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(412-414)cAg>cGg		Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.							146	123	131					12																	109017719		2203	4300	6503	SO:0001583	missense	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017719T>C		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.365A>G	12.37:g.109017719T>C	ENSP00000447752:p.Gln122Arg					SELPLG_uc001tni.3_Missense_Mutation_p.Q122R|SELPLG_uc021rdm.1_Missense_Mutation_p.Q122R|SELPLG_uc001tnh.3_Missense_Mutation_p.Q122R	p.Q138R	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN			1	590	-			122		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).	12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.413A>G	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	T	4.421	0.077773	0.08485	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.15017	2.55;2.46;2.46	3.45	-6.89	0.01660	.	4.873430	0.00649	N	0.000550	T	0.11707	0.0285	L	0.36672	1.1	0.09310	N	1	B;B	0.22414	0.069;0.035	B;B	0.20384	0.029;0.016	T	0.17379	-1.0371	10	0.16896	T	0.51	.	6.2486	0.20833	0.2303:0.0:0.3116:0.458	.	138;122	B7Z5C7;Q14242	.;SELPL_HUMAN	R	122;122;138	ENSP00000373614:Q122R;ENSP00000447752:Q122R;ENSP00000228463:Q138R	ENSP00000228463:Q138R	Q	-	2	0	SELPLG	107541848	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.547000	0.06055	-2.738000	0.00380	-0.669000	0.03829	CAG		0.602	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			C	109017719	T	C	109017719	3	2	230	1	0	0	0	0	1	0	0	0	14020	1580	55	4	851	4	SELPLG	12	109017719	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	11930213	109017719	24834176	62	16191											
TPCN1	53373	broad.mit.edu	37	chr12	113729743	113729743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccgaatgaactacagccGcaagaaccaggactcggaag	14	5	10	12	3	0	2	0	1	0	1	2	5	1	4	3	2	4	1	3	2	6	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:113729743G>A	ENST00000335509.6	+	25	2407	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	TPCN1_ENST00000550785.1_Missense_Mutation_p.R770H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R630H|TPCN1_ENST00000541517.1_Missense_Mutation_p.R770H	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	698					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AACTACAGCCGCAAGAACCAG	0.582																																						uc001tux.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2308-2310)cGc>cAc		Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.							118	102	108					12																	113729743		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113729743G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2093G>A	12.37:g.113729743G>A	ENSP00000335300:p.Arg698His					TPCN1_uc001tuw.3_Missense_Mutation_p.R698H|TPCN1_uc010syu.2_5'Flank	p.R770H	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN			25	2483	+			698					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.2309G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664230	0.96745	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.97066	-4.12;-4.23;-4.23;-4.18	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.971	D	0.98979	1.0804	10	0.72032	D	0.01	-26.6494	19.3504	0.94381	0.0:0.0:1.0:0.0	.	770;698	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	H	698;770;770;630	ENSP00000335300:R698H;ENSP00000448083:R770H;ENSP00000438125:R770H;ENSP00000376350:R630H	ENSP00000335300:R698H	R	+	2	0	TPCN1	112214126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.232000	0.95325	2.629000	0.89072	0.655000	0.94253	CGC		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		A	113729743	G	A	113729743	3	1	230	1	0	0	0	0	1	0	0	0	16392	1087	38	1	2407	1	TPCN1	12	113729743	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4712024	113729743	20122152	63	16192											
KSR2	283455	broad.mit.edu	37	chr12	118198974	118198974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcctcatgggcggCgtgcccggcggggtcacggt	2	11	15	13	5	4	0	2	0	2	0	5	0	5	0	2	6	1	0	2	6	0	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:118198974C>T	ENST00000339824.5	-	4	1555	c.828G>A	c.(826-828)acG>acA	p.T276T	KSR2_ENST00000425217.1_Silent_p.T247T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	276	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGGGCGGCGTGCCCGGCG	0.706																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(739-741)acG>acA		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							82	100	94					12																	118198974		1868	4096	5964	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198974C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.828G>A	12.37:g.118198974C>T							p.T247T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			3	796	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		276			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.741G>A																																																																																					0.706	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	118198974	C	T	118198974	2	4	230	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198974	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	4469231	118198974	15652921	64	16193											
CLIP1	6249	broad.mit.edu	37	chr12	122803873	122803873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttccattatctgcatgGcatcttccgctgtttgagca	6	16	8	11	1	3	1	0	1	3	0	5	1	5	1	2	1	2	6	2	1	1	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:122803873G>A	ENST00000540338.1	-	17	3313	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	CLIP1_ENST00000361654.4_Missense_Mutation_p.A969V|CLIP1_ENST00000302528.7_Missense_Mutation_p.A1080V|CLIP1_ENST00000358808.2_Missense_Mutation_p.A1080V|CLIP1_ENST00000537178.1_Missense_Mutation_p.A1045V|CLIP1_ENST00000545889.1_Missense_Mutation_p.A666V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1091					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TATCTGCATGGCATCTTCCGC	0.478																																						uc001ucg.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3271-3273)gCc>gTc		Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.							154	126	136					12																	122803873		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122803873G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3272C>T	12.37:g.122803873G>A	ENSP00000439093:p.Ala1091Val					CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V	p.A1091V	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3427	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1091					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3272C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050382	0.55218	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.46	5.46	0.80206	.	0.317330	0.33075	N	0.005320	T	0.22820	0.0551	N	0.17082	0.46	0.37491	D	0.916378	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.14578	0.011;0.011;0.005	T	0.11275	-1.0594	10	0.27785	T	0.31	-3.4485	11.6677	0.51383	0.0886:0.0:0.9114:0.0	.	1045;1080;1091	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	V	666;1080;1080;810;122;1045;1091	ENSP00000438743:A666V;ENSP00000303585:A1080V;ENSP00000351665:A1080V;ENSP00000445531:A1045V;ENSP00000439093:A1091V	ENSP00000303585:A1080V	A	-	2	0	CLIP1	121369826	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	5.088000	0.64486	2.726000	0.93360	0.655000	0.94253	GCC		0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		A	122803873	G	A	122803873	3	1	230	1	0	0	0	0	1	0	0	0	3532	1203	42	3	1080	3	CLIP1	12	122803873	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4604899	122803873	11048022	65	16194											
EP400	57634	broad.mit.edu	37	chr12	132527862	132527862	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaggccctcaagagtaTtgagtatctggaggaggatg	10	10	13	8	0	3	2	2	1	1	1	4	5	4	5	2	4	0	2	2	4	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:132527862T>A	ENST00000333577.4	+	34	6438	c.6329T>A	c.(6328-6330)aTt>aAt	p.I2110N	EP400_ENST00000332482.4_Missense_Mutation_p.I2037N|EP400_ENST00000330386.6_Missense_Mutation_p.I1993N|EP400_ENST00000389561.2_Missense_Mutation_p.I2074N|EP400_ENST00000389562.2_Missense_Mutation_p.I2073N			Q96L91	EP400_HUMAN	E1A binding protein p400	2110					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAAGAGTATTGAGTATCTG	0.463																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6220-6222)aTt>aAt		Homo sapiens E1A binding protein p400 (EP400), mRNA.							64	61	62					12																	132527862		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132527862T>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6329T>A	12.37:g.132527862T>A	ENSP00000333602:p.Ile2110Asn					EP400_uc021rgq.1_Missense_Mutation_p.I2073N|EP400_uc001ujm.3_Missense_Mutation_p.I1993N	p.I2074N	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	32	6373	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2110					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.6221T>A		.	.	.	.	.	.	.	.	.	.	T	12.56	1.974730	0.34848	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90563	-2.69;-2.67;-2.69;-2.69;-2.68	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94371	0.8190	M	0.75447	2.3	0.38102	D	0.937297	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.65010	0.931;0.931;0.931	D	0.94516	0.7723	10	0.35671	T	0.21	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	2074;1993;2073	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	N	2110;2074;2073;2037;1993;2074	ENSP00000333602:I2110N;ENSP00000374212:I2074N;ENSP00000374213:I2073N;ENSP00000331737:I2037N;ENSP00000330620:I1993N	ENSP00000330620:I1993N	I	+	2	0	EP400	131093815	0.998000	0.40836	0.977000	0.42913	0.971000	0.66376	4.070000	0.57548	2.190000	0.69967	0.460000	0.39030	ATT		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132527862	T	A	132527862	3	1	230	1	0	0	0	0	1	0	0	0	5149	1493	52	5	6344	5	EP400	12	132527862	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	9723989	132527862	1324033	66	16195											
SLC15A1	6564	broad.mit.edu	37	chr13	99356577	99356577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcccacactagaagcGtgtggcgttggccctgcttg	5	9	16	11	2	0	1	0	0	0	1	0	1	0	1	2	4	2	2	2	4	2	3	rs141206459		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr13:99356577G>A	ENST00000376503.5	-	17	1437	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	461					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CACTAGAAGCGTGTGGCGTTG	0.453																																						uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1381-1383)aCg>aTg		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	160	147	151		1382	3.5	0.9	13	dbSNP_134	151	0,8600		0,0,4300	no	missense	SLC15A1	NM_005073.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	461/709	99356577	1,13005	2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99356577G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1382C>T	13.37:g.99356577G>A	ENSP00000365686:p.Thr461Met						p.T461M	NM_005073	NP_005064	P46059	S15A1_HUMAN			16	1459	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		461					Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.1382C>T	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854566	0.32791	2.27E-4	0.0	ENSG00000088386	ENST00000376503	T	0.04809	3.55	5.37	3.54	0.40534	Major facilitator superfamily domain, general substrate transporter (1);	0.111606	0.64402	D	0.000010	T	0.19366	0.0465	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00350	-1.1797	10	0.66056	D	0.02	-36.7966	8.2414	0.31662	0.0884:0.1571:0.7545:0.0	.	461	P46059	S15A1_HUMAN	M	461	ENSP00000365686:T461M	ENSP00000365686:T461M	T	-	2	0	SLC15A1	98154578	1.000000	0.71417	0.926000	0.36857	0.010000	0.07245	1.915000	0.39976	1.406000	0.46857	0.655000	0.94253	ACG		0.453	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		A	99356577	G	A	99356577	3	1	230	1	0	0	0	0	1	0	0	0	14398	1145	40	1	772	1	SLC15A1	13	99356577	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		99356577	15813301	67	16196											
OR11H12	440153	broad.mit.edu	37	chr14	19378103	19378103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtttgtggatttctgtgGttcctgatccccattgttct	3	19	11	8	0	2	1	0	1	2	0	4	2	4	2	3	3	0	3	3	3	0	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:19378103G>T	ENST00000550708.1	+	1	582	c.510G>T	c.(508-510)tgG>tgT	p.W170C		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTTCTGTGGTTCCTGATCC	0.483																																						uc010tkp.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(508-510)tgG>tgT		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							127	138	135					14																	19378103		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378103G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.510G>T	14.37:g.19378103G>T	ENSP00000449002:p.Trp170Cys						p.W170C	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	510	+	all_cancers(95;0.00108)		170						Missense_Mutation	SNP	ENST00000550708.1	37	c.510G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.152461	0.00325	.	.	ENSG00000257115	ENST00000550708	T	0.37584	1.19	0.585	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.365515	0.20003	N	0.101298	T	0.12475	0.0303	N	0.04148	-0.265	0.26925	N	0.966591	B	0.13594	0.008	B	0.16722	0.016	T	0.06734	-1.0810	9	0.38643	T	0.18	.	1.712	0.02893	0.2525:0.0:0.4185:0.3291	.	170	B2RN74	O11HC_HUMAN	C	170	ENSP00000449002:W170C	ENSP00000449002:W170C	W	+	3	0	CR383656.1	18448103	0.000000	0.05858	0.818000	0.32626	0.074000	0.17049	-1.985000	0.01485	-0.219000	0.10003	-2.446000	0.00210	TGG		0.483	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		T	19378103	G	T	19378103	3	4	230	1	0	0	0	0	1	0	0	0	10927	1270	44	5	512	5	OR11H12	14	19378103	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		19378103	87971437	68	16197											
OR4Q3	441669	broad.mit.edu	37	chr14	20216022	20216022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagctatgcctttggttgGttcttgcctgctggtgtggg	2	15	14	10	0	1	0	0	0	1	0	1	0	1	0	3	4	4	4	3	4	1	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:20216022G>T	ENST00000331723.1	+	1	436	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTGGTTGGTTCTTGCCTG	0.488																																						uc010tkt.2																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(436-438)Gtt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.							95	99	97					14																	20216022		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216022G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.436G>T	14.37:g.20216022G>T	ENSP00000330049:p.Val146Phe						p.V146F	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	436	+	all_cancers(95;0.00108)		146					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.436G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.992	0.977999	0.18812	.	.	ENSG00000182652	ENST00000331723	T	0.39997	1.05	4.09	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	U	0.002761	T	0.55784	0.1942	M	0.92970	3.365	0.09310	N	1	P	0.45957	0.869	P	0.49252	0.604	T	0.53500	-0.8430	10	0.87932	D	0	.	6.6347	0.22877	0.42:0.0:0.58:0.0	.	146	Q8NH05	OR4Q3_HUMAN	F	146	ENSP00000330049:V146F	ENSP00000330049:V146F	V	+	1	0	OR4Q3	19285862	0.001000	0.12720	0.926000	0.36857	0.235000	0.25334	0.470000	0.22084	0.387000	0.25024	-0.487000	0.04747	GTT		0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			T	20216022	G	T	20216022	3	4	230	1	0	0	0	0	1	0	0	0	11081	1261	44	5	438	5	OR4Q3	14	20216022	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	837919	20216022	87133518	69	16198											
BCL2L2	599	broad.mit.edu	37	chr14	23777257	23777258	+	Frame_Shift_Ins	INS	-	-	C																															caagggggccccaactggggINSccgccttgtagccttctttg																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:23777257_23777258insC	ENST00000250405.5	+	3	510_511	c.281_282insC	c.(280-285)ggccgcfs	p.R95fs	BCL2L2-PABPN1_ENST00000553781.1_Frame_Shift_Ins_p.R95fs|BCL2L2-PABPN1_ENST00000557008.1_Frame_Shift_Ins_p.R95fs	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	95					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CCCAACTGGGGCCGCCTTGTAG	0.574																																						uc001wjh.4																			0											c.(280-282)ggcfs		Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																																				SO:0001589	frameshift_variant	8106							g.chr14:23777257_23777258insC	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	995	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 51"	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.283dupC	14.37:g.23777259_23777259dupC	ENSP00000250405:p.Arg95fs					BCL2L2-PABPN1_uc001wjg.4_Frame_Shift_Ins_p.G94fs|BCL2L2-PABPN1_uc021rqx.1_Frame_Shift_Ins_p.G94fs|BCL2L2-PABPN1_uc001wji.4_Frame_Shift_Ins_p.G94fs	p.G94fs	NM_001199864	NP_001186793					2	510_511	+								A8K0F4|Q2M3U0|Q5U0H4	Frame_Shift_Ins	INS	ENST00000250405.5	37	c.281_282insC	CCDS9591.1																																																																																				0.574	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		C	23777258	-	C	23777257	7	5	230	1	0	1	1	0	0	0	0	0	1374	1203	42	0	283	0	BCL2L2	14	23777257	Frame_Shift_Ins	INS	-	TCGA-32-2495-01A-01D-1353-08	3561235	23777257	83572283	70	16199											
KHNYN	23351	broad.mit.edu	37	chr14	24901649	24901649	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcagcagggcatggcacgGggtcgggggcctcaatggaa	10	4	18	9	2	1	0	1	0	0	0	2	1	1	1	1	7	2	4	1	7	3	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:24901649G>C	ENST00000251343.5	+	3	1321	c.1182G>C	c.(1180-1182)cgG>cgC	p.R394R	KHNYN_ENST00000556842.1_Silent_p.R394R|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Silent_p.R394R|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	394							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCATGGCACGGGGTCGGGGGC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tpc.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1303-1305)cgG>cgC		Homo sapiens KH and NYN domain containing (KHNYN), mRNA.							19	21	21					14																	24901649		2198	4270	6468	SO:0001819	synonymous_variant	23351							g.chr14:24901649G>C	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1182G>C	14.37:g.24901649G>C			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc001wph.4_Silent_p.R394R|KHNYN_uc010alw.3_Silent_p.R394R|CBLN3_uc001wpg.4_5'Flank	p.R435R	NM_015299	NP_056114	O15037	KHNYN_HUMAN			2	1321	+			394					Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	c.1305G>C	CCDS32058.1																																																																																				0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			C	24901649	G	C	24901649	2	2	230	1	0	0	0	0	0	0	0	1	8150	1219	43	5		5	KHNYN	14	24901649	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	1124392	24901649	82447891	71	16200											
MARK3	4140	broad.mit.edu	37	chr14	103933475	103933475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatctcttagtaagatgAaatacgatgaaatcacagct	18	10	7	6	1	2	4	1	2	1	2	3	5	2	4	0	0	2	2	0	0	7	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:103933475A>C	ENST00000429436.2	+	11	1567	c.1057A>C	c.(1057-1059)Aaa>Caa	p.K353Q	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.K376Q|MARK3_ENST00000216288.7_Missense_Mutation_p.K353Q|MARK3_ENST00000440884.3_Missense_Mutation_p.K274Q|MARK3_ENST00000553942.1_Missense_Mutation_p.K353Q|MARK3_ENST00000303622.9_Missense_Mutation_p.K353Q|MARK3_ENST00000335102.5_Missense_Mutation_p.K376Q	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	353	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TAGTAAGATGAAATACGATGA	0.328																																						uc001ymz.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1057-1059)Aaa>Caa		Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.							102	101	101					14																	103933475		1810	4070	5880	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103933475A>C	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1057A>C	14.37:g.103933475A>C	ENSP00000411397:p.Lys353Gln					MARK3_uc001ymx.4_Missense_Mutation_p.K353Q|MARK3_uc001ymw.4_Missense_Mutation_p.K353Q|MARK3_uc001yna.4_Missense_Mutation_p.K353Q|MARK3_uc001ymy.4_Missense_Mutation_p.K274Q|MARK3_uc010awp.3_Missense_Mutation_p.K376Q|MARK3_uc010tyb.2_Missense_Mutation_p.K164Q	p.K353Q	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		10	1723	+		Melanoma(154;0.155)	353			UBA.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1057A>C	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.00|13.00	2.105516|2.105516	0.37145|0.37145	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	T;T;T;T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42;1.42;1.42;1.42|.	5.71|5.71	4.57|4.57	0.56435|0.56435	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);|.	0.041854|.	0.85682|.	N|.	0.000000|.	T|.	0.72969|.	0.3527|.	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;P;P;B;P;D;B|.	0.54601|.	0.511;0.511;0.638;0.324;0.92;0.967;0.254|.	B;B;B;B;B;P;B|.	0.55667|.	0.373;0.373;0.231;0.07;0.171;0.781;0.102|.	T|.	0.72981|.	-0.4126|.	10|.	0.66056|.	D|.	0.02|.	.|.	11.7509|11.7509	0.51847|0.51847	0.9311:0.0:0.0689:0.0|0.9311:0.0:0.0689:0.0	.|.	376;376;353;353;274;353;353|.	P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;MARK3_HUMAN;.;.;.|.	Q|C	376;2;274;376;353;353;353;353|120	ENSP00000335347:K376Q;ENSP00000402104:K274Q;ENSP00000408092:K376Q;ENSP00000411397:K353Q;ENSP00000303698:K353Q;ENSP00000216288:K353Q;ENSP00000450772:K353Q|.	ENSP00000216288:K353Q|.	K|X	+|+	1|3	0|0	MARK3|MARK3	103003228|103003228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.001000|0.001000	0.01503|0.01503	9.169000|9.169000	0.94788|0.94788	0.988000|0.988000	0.38734|0.38734	-0.363000|-0.363000	0.07495|0.07495	AAA|TGA		0.328	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		C	103933475	A	C	103933475	3	2	230	1	0	0	0	0	1	0	0	0	9314	247	9	5	1099	5	MARK3	14	103933475	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	79031826	103933475	3416065	72	16201											
C15orf2	23742	broad.mit.edu	37	chr15	24924482	24924482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtctgtttccaacttccGtaagagcacctgtggttcac	8	13	8	12	1	2	1	1	0	1	1	4	1	4	1	3	1	2	4	3	1	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr15:24924482G>A	ENST00000329468.2	+	1	3942	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1156P(1)									TCCAACTTCCGTAAGAGCACC	0.423																																						uc001ywo.3																			1	Substitution - coding silent(1)	p.P1156P(2)|p.L1155F(1)|p.P1156Q(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(3466-3468)ccG>ccA		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							70	62	64					15																	24924482		2202	4298	6500	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924482G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3468G>A	15.37:g.24924482G>A							p.P1156P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	3942	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	1156						Silent	SNP	ENST00000329468.2	37	c.3468G>A	CCDS10015.1																																																																																				0.423	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24924482	G	A	24924482	2	1	230	1	0	0	0	0	0	0	0	1	1784	1132	40	1		1	C15orf2	15	24924482	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08		24924482	77606910	73	16202											
GRIN2A	2903	broad.mit.edu	37	chr16	10032404	10032404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggaagaaggtagacgtcGgatcctgccagtgaaaagaa	15	6	13	7	2	0	4	0	1	0	3	2	6	1	6	2	3	1	1	2	3	6	1	rs142566406		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:10032404G>A	ENST00000396573.2	-	4	728	c.419C>T	c.(418-420)cCg>cTg	p.P140L	GRIN2A_ENST00000404927.2_Missense_Mutation_p.P140L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P140L|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P140L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P140L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	140					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTAGACGTCGGATCCTGCCA	0.478																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(418-420)cCg>cTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	G	LEU/PRO,LEU/PRO,LEU/PRO	0,4300		0,0,2150	40	38	38		419,419,419	4.5	1	16	dbSNP_134	38	2,8340		0,2,4169	no	missense,missense,missense	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	98,98,98	0,2,6319	AA,AG,GG		0.024,0.0,0.0158	benign,benign,benign	140/1465,140/1465,140/1282	10032404	2,12640	2150	4171	6321	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032404G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.419C>T	16.37:g.10032404G>A	ENSP00000379818:p.Pro140Leu					GRIN2A_uc002czo.4_Missense_Mutation_p.P140L|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Missense_Mutation_p.P140L	p.P140L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			3	729	-			140					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.419C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197871	0.38806	0.0	2.4E-4	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.48	4.46	0.54185	Extracellular ligand-binding receptor (1);	0.332587	0.31392	N	0.007732	T	0.69842	0.3156	L	0.38175	1.15	0.80722	D	1	B;B	0.28584	0.027;0.216	B;B	0.22386	0.028;0.039	T	0.64241	-0.6454	9	.	.	.	.	5.8773	0.18836	0.0913:0.0:0.5813:0.3274	.	140;140	Q17RZ6;Q12879	.;NMDE1_HUMAN	L	140	ENSP00000379818:P140L;ENSP00000385872:P140L;ENSP00000332549:P140L;ENSP00000379820:P140L	.	P	-	2	0	GRIN2A	9939905	0.570000	0.26651	0.953000	0.39169	0.931000	0.56810	1.316000	0.33620	2.724000	0.93272	0.563000	0.77884	CCG		0.478	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	10032404	G	A	10032404	3	1	230	1	0	0	0	0	1	0	0	0	6779	1116	39	2	4019	2	GRIN2A	16	10032404	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		10032404	80322349	74	16203											
MYH11	4629	broad.mit.edu	37	chr16	15811149	15811149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgagctgctgccgggcactCtcattcttctgggccgtgct	3	12	12	14	3	3	0	1	0	3	0	5	1	3	0	2	2	4	4	2	2	0	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:15811149C>G	ENST00000300036.5	-	38	5461	c.5352G>C	c.(5350-5352)gaG>gaC	p.E1784D	MYH11_ENST00000452625.2_Missense_Mutation_p.E1791D|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1791D|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1784D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1784					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGGGCACTCTCATTCTTCT	0.647			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5371-5373)gaG>gaC		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							66	64	65					16																	15811149		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15811149C>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5352G>C	16.37:g.15811149C>G	ENSP00000300036:p.Glu1784Asp					MYH11_uc002ddv.3_Missense_Mutation_p.E1791D|MYH11_uc002ddw.3_Missense_Mutation_p.E1784D|MYH11_uc002ddy.3_Missense_Mutation_p.E1784D|MYH11_uc010bvg.3_Missense_Mutation_p.E1616D|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E490D	p.E1791D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			38	5480	-			1784					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5373G>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752541	0.49362	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.33	4.33	0.51752	Myosin tail (1);	0.062472	0.64402	D	0.000004	D	0.84606	0.5509	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B	0.31989	0.092;0.19;0.35;0.19;0.092	B;B;P;B;B	0.46585	0.246;0.327;0.521;0.327;0.246	D	0.84323	0.0517	10	0.52906	T	0.07	.	9.6311	0.39780	0.0:0.8898:0.0:0.1102	.	1791;1784;1791;1784;1791	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	1784;1784;1791;1791;1791	ENSP00000300036:E1784D;ENSP00000345136:E1784D;ENSP00000379616:E1791D;ENSP00000407821:E1791D	ENSP00000300036:E1784D	E	-	3	2	MYH11	15718650	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	0.743000	0.26231	1.977000	0.57605	0.462000	0.41574	GAG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		G	15811149	C	G	15811149	3	3	230	1	0	0	0	0	1	0	0	0	10031	912	32	5	617	5	MYH11	16	15811149	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5778745	15811149	74543604	75	16204											
DNAH3	55567	broad.mit.edu	37	chr16	20952865	20952865	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccaactcctcaaccacttCcttaaaatgcaggcagaaga	14	8	6	13	0	1	2	1	0	0	2	3	2	3	2	4	1	4	2	4	1	5	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:20952865C>T	ENST00000261383.3	-	59	11511	c.11512G>A	c.(11512-11514)Gaa>Aaa	p.E3838K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3838					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAACCACTTCCTTAAAATGC	0.453																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.e59-1		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							96	91	93					16																	20952865		2201	4300	6501	SO:0001630	splice_region_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952865C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11512-1G>A	16.37:g.20952865C>T						DNAH3_uc010vbd.2_Splice_Site_p.E1273_splice	p.E3838_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11512	-			3838					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11512_splice	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217130	0.58560	.	.	ENSG00000158486	ENST00000261383	T	0.10382	2.88	5.79	5.79	0.91817	Dynein heavy chain (1);	0.129168	0.52532	D	0.000073	T	0.17408	0.0418	M	0.71036	2.16	0.80722	D	1	B	0.23650	0.089	B	0.26969	0.075	T	0.00923	-1.1513	10	0.56958	D	0.05	.	15.1959	0.73088	0.0:0.9311:0.0:0.0689	.	3838	Q8TD57	DYH3_HUMAN	K	3838	ENSP00000261383:E3838K	ENSP00000261383:E3838K	E	-	1	0	DNAH3	20860366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.826000	0.55738	2.746000	0.94184	0.655000	0.94253	GAA		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	Missense_Mutation	T	20952865	C	T	20952865	5	4	230	1	0	0	0	0	0	0	1	0	4603	869	30	3	853	3	DNAH3	16	20952865	Splice_Site	SNP	C	TCGA-32-2495-01A-01D-1353-08	5141716	20952865	69401888	76	16205											
OTOA	146183	broad.mit.edu	37	chr16	21698929	21698929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagccagacatcacagagCggctccctcgggacctgcgc	8	5	11	17	3	1	2	1	0	0	2	4	3	3	3	4	2	3	1	4	2	0	0	rs148114778		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:21698929C>T	ENST00000286149.4	+	7	596	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	OTOA_ENST00000388956.4_Missense_Mutation_p.R120W|OTOA_ENST00000388958.3_Missense_Mutation_p.R199W			Q7RTW8	OTOAN_HUMAN	otoancorin	199					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATCACAGAGCGGCTCCCTCG	0.532																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(595-597)Cgg>Tgg		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4398		0,0,2199	43	41	42		358,595	0.7	0	16	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OTOA	NM_001161683.1,NM_144672.3	101,101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	120/1061,199/1140	21698929	1,12997	2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698929C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.595C>T	16.37:g.21698929C>T	ENSP00000286149:p.Arg199Trp					LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R120W	p.R199W	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	6	596	+			199					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.595C>T		.	.	.	.	.	.	.	.	.	.	C	4.979	0.181862	0.09495	0.0	1.16E-4	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.13196	2.61;2.61;2.61	4.46	0.666	0.17901	.	0.634312	0.16139	N	0.227834	T	0.10937	0.0267	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.22800	-1.0206	10	0.72032	D	0.01	-2.1408	6.2093	0.20619	0.4963:0.362:0.0:0.1416	.	120;199	B3KWU3;E9PF51	.;.	W	199;199;120	ENSP00000373610:R199W;ENSP00000286149:R199W;ENSP00000373608:R120W	ENSP00000286149:R199W	R	+	1	2	OTOA	21606430	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.221000	0.17680	-0.173000	0.10761	-0.491000	0.04670	CGG		0.532	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			T	21698929	C	T	21698929	3	4	230	1	0	0	0	0	1	0	0	0	11302	759	27	1	655	1	OTOA	16	21698929	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	746064	21698929	68655824	77	16206											
SETD1A	9739	broad.mit.edu	37	chr16	30975479	30975479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaggcaccactgcggtggGcactcctggcaacggcaccc	8	4	13	16	2	0	0	0	0	0	0	1	0	1	0	3	5	3	5	3	5	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:30975479G>A	ENST00000262519.8	+	6	1390	c.704G>A	c.(703-705)gGc>gAc	p.G235D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	235					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTGCGGTGGGCACTCCTGGC	0.627																																						uc002ead.1																			0		p.V234M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(703-705)gGc>gAc		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							101	89	93					16																	30975479		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30975479G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.704G>A	16.37:g.30975479G>A	ENSP00000262519:p.Gly235Asp					SETD1A_uc002eae.1_Missense_Mutation_p.G235D	p.G235D	NM_014712	NP_055527	O15047	SET1A_HUMAN			5	1390	+			235					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.704G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451425	0.43531	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	D	0.93953	-3.32	5.68	4.67	0.58626	.	0.128861	0.34580	N	0.003849	D	0.88514	0.6457	N	0.08118	0	0.32070	N	0.594593	D	0.61080	0.989	P	0.52793	0.709	D	0.88569	0.3128	10	0.51188	T	0.08	.	10.1803	0.42963	0.0:0.0:0.7541:0.2459	.	235	O15047	SET1A_HUMAN	D	235	ENSP00000262519:G235D	ENSP00000262519:G235D	G	+	2	0	SETD1A	30882980	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.316000	0.43761	2.675000	0.91044	0.561000	0.74099	GGC		0.627	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		A	30975479	G	A	30975479	3	1	230	1	0	0	0	0	1	0	0	0	14130	1203	42	3	722	3	SETD1A	16	30975479	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9276550	30975479	59379274	78	16207											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219094	8219094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctagcaacgctcctgtcCcgtgtgcgctcttcccccca	4	12	7	18	3	2	0	0	0	2	0	5	0	5	0	5	0	3	3	5	0	2	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:8219094C>T	ENST00000361926.3	+	8	1553	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	ARHGEF15_ENST00000421050.1_Silent_p.S481S|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	481	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGCTCCTGTCCCGTGTGCGCT	0.582																																						uc002glc.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1441-1443)tcC>tcT		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.							76	72	74					17																	8219094		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8219094C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1443C>T	17.37:g.8219094C>T						ARHGEF15_uc002gld.3_Silent_p.S481S|ARHGEF15_uc010vuw.2_Silent_p.S370S	p.S481S	NM_173728	NP_776089	O94989	ARHGF_HUMAN			7	1598	+			481			DH.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1443C>T	CCDS11139.1																																																																																				0.582	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		T	8219094	C	T	8219094	2	4	230	1	0	0	0	0	0	0	0	1	898	610	22	3		3	ARHGEF15	17	8219094	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08		8219094	72976116	79	16208											
RNF112	7732	broad.mit.edu	37	chr17	19316608	19316608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagtctggtgagggcGgccggccaagaggaggagag	9	4	21	7	2	1	3	0	1	1	2	1	6	1	5	2	7	1	1	2	7	1	0	rs377199559		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:19316608G>A	ENST00000461366.1	+	5	819	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	202	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						TGGTGAGGGCGGCCGGCCAAG	0.652																																						uc010vyw.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(604-606)Ggc>Agc		Homo sapiens ring finger protein 112 (RNF112), mRNA.		G	SER/GLY	0,3940		0,0,1970	21	26	24		604	-9.8	0	17		24	1,8287		0,1,4143	no	missense	RNF112	NM_007148.4	56	0,1,6113	AA,AG,GG		0.0121,0.0,0.0082	benign	202/632	19316608	1,12227	1970	4144	6114	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316608G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.604G>A	17.37:g.19316608G>A	ENSP00000454919:p.Gly202Ser					RNF112_uc010vyu.2_3'UTR|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G85S	p.G202S	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			4	835	+			202					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.604G>A	CCDS58529.1																																																																																				0.652	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		A	19316608	G	A	19316608	3	1	230	1	0	0	0	0	1	0	0	0	13426	1116	39	2	332	2	RNF112	17	19316608	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	11097514	19316608	61878602	80	16209											
KRT37	8688	broad.mit.edu	37	chr17	39580498	39580498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgtttttgccgtaggccCcacagattccgatgttgccg	5	12	13	11	3	0	1	0	0	0	1	1	2	1	1	5	2	2	3	5	2	1	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:39580498C>T	ENST00000225550.3	-	1	277	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	93	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCGTAGGCCCCACAGATTCC	0.602																																						uc002hwp.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(277-279)gGg>gAg		Homo sapiens keratin 37 (KRT37), mRNA.							81	68	72					17																	39580498		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580498C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.278G>A	17.37:g.39580498C>T	ENSP00000225550:p.Gly93Glu						p.G93E	NM_003770	NP_003761	O76014	KRT37_HUMAN			0	325	-		Breast(137;0.000496)	93			Head.			Missense_Mutation	SNP	ENST00000225550.3	37	c.278G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	5.752	0.323196	0.10900	.	.	ENSG00000108417	ENST00000225550	D	0.82984	-1.67	4.69	2.63	0.31362	.	0.128902	0.35207	N	0.003378	T	0.76659	0.4018	L	0.53249	1.67	0.09310	N	1	B	0.25390	0.125	B	0.22753	0.041	T	0.66204	-0.5982	10	0.49607	T	0.09	.	8.8841	0.35392	0.0:0.7659:0.1504:0.0837	.	93	O76014	KRT37_HUMAN	E	93	ENSP00000225550:G93E	ENSP00000225550:G93E	G	-	2	0	KRT37	36834024	0.000000	0.05858	0.026000	0.17262	0.066000	0.16364	0.634000	0.24614	0.391000	0.25143	0.655000	0.94253	GGG		0.602	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		T	39580498	C	T	39580498	3	4	230	1	0	0	0	0	1	0	0	0	8474	623	22	3	1099	3	KRT37	17	39580498	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	20263890	39580498	41614712	81	16210											
TRIM65	201292	broad.mit.edu	37	chr17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgggccccgggactgaCgacagtgcttcacctgctgg	5	7	14	15	3	1	1	1	1	0	0	1	3	1	2	4	3	2	2	4	3	0	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:73887344C>T	ENST00000269383.3	-	6	1135	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627																																						uc002jpx.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1069-1071)cGt>cAt		Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.							23	26	25					17																	73887344		2184	4237	6421	SO:0001583	missense	201292					intracellular	zinc ion binding	g.chr17:73887344C>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1070G>A	17.37:g.73887344C>T	ENSP00000269383:p.Arg357His						p.R357H	NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	1106	-			357			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	c.1070G>A	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.840|0.840	-0.742236|-0.742236	0.03088|0.03088	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.58060|.	0.36|.	5.01|5.01	-5.75|-5.75	0.02384|0.02384	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	1.529570|.	0.04124|.	N|.	0.316712|.	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.04013|.	0.001|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.28530|.	T|.	0.3|.	.|.	3.8188|3.8188	0.08827|0.08827	0.5258:0.2247:0.0839:0.1655|0.5258:0.2247:0.0839:0.1655	.|.	357|.	Q6PJ69|.	TRI65_HUMAN|.	H|I	357|209	ENSP00000269383:R357H|.	ENSP00000269383:R357H|.	R|V	-|-	2|1	0|0	TRIM65|TRIM65	71398939|71398939	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-1.993000|-1.993000	0.01475|0.01475	-0.710000|-0.710000	0.05001|0.05001	-0.127000|-0.127000	0.14921|0.14921	CGT|GTC		0.627	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		T	73887344	C	T	73887344	3	4	230	1	0	0	0	0	1	0	0	0	16536	536	19	1	487	1	TRIM65	17	73887344	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	34306846	73887344	7307866	82	16211											
SMCHD1	23347	broad.mit.edu	37	chr18	2770043	2770044	+	Frame_Shift_Del	DEL	CA	CA	-																															aagaaaaggaccaattatctCagtctattgttatgtataaa																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:2770043_2770044delCA	ENST00000320876.6	+	39	5241_5242	c.4903_4904delCA	c.(4903-4905)cagfs	p.Q1635fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.Q1635fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1635					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCAATTATCTCAGTCTATTGTT	0.277																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4903-4905)cagfs		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.																																				SO:0001589	frameshift_variant	23347				chromosome organization		ATP binding	g.chr18:2770043_2770044delCA	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4903_4904delCA	18.37:g.2770043_2770044delCA	ENSP00000326603:p.Gln1635fs					SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	p.Q1635fs	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			38	5092_5093	+			1635					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	ENST00000320876.6	37	c.4903_4904delCA	CCDS45822.1																																																																																				0.277	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			-	2770044	CA	-	2770043	7	5	230	1	0	1	0	1	0	0	0	0	14788	827	29	0	5057	0	SMCHD1	18	2770043	Frame_Shift_Del	DEL	CA	TCGA-32-2495-01A-01D-1353-08		2770043	75307205	83	16212											
ZNF519	162655	broad.mit.edu	37	chr18	14105942	14105942	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaatatggatattttcAgggaaaataagctttgagga	14	15	10	2	0	1	2	1	2	0	0	1	5	1	5	0	3	1	1	0	3	6	8			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:14105942A>G	ENST00000590202.1	-	3	749	c.597T>C	c.(595-597)ccT>ccC	p.P199P	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	199					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATATTTTCAGGGAAAATAA	0.284																																						uc002kst.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(595-597)ccT>ccC		Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.							45	48	47					18																	14105942		2191	4281	6472	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105942A>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.597T>C	18.37:g.14105942A>G						ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	p.P199P	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			2	810	-			199						Silent	SNP	ENST00000590202.1	37	c.597T>C	CCDS32797.1																																																																																				0.284	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		G	14105942	A	G	14105942	2	3	230	1	0	0	0	0	0	0	0	1	17961	175	7	4		4	ZNF519	18	14105942	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08	11335899	14105942	63971306	84	16213											
ELP2	55250	broad.mit.edu	37	chr18	33740957	33740957	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaagactctgcttgcctCagcttgtaaggtagggaagt	10	12	11	8	0	3	1	2	0	1	1	3	2	3	2	1	2	3	4	1	2	4	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:33740957C>G	ENST00000358232.6	+	17	1814	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	ELP2_ENST00000542824.1_Nonsense_Mutation_p.S514*|ELP2_ENST00000351393.6_Nonsense_Mutation_p.S558*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000423854.2_Nonsense_Mutation_p.S514*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.S649*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.S579*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	584					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGCTTGCCTCAGCTTGTAAG	0.363																																						uc010xcg.2																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(1945-1947)tCa>tGa		Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.							148	143	144					18																	33740957		2203	4300	6503	SO:0001587	stop_gained	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33740957C>G	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1751C>G	18.37:g.33740957C>G	ENSP00000350967:p.Ser584*					ELP2_uc002kzk.2_Nonsense_Mutation_p.S584*|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Nonsense_Mutation_p.S558*|ELP2_uc010xch.2_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.2_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.2_Nonsense_Mutation_p.S514*	p.S649*	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN			17	2006	+			584					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	c.1946C>G	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	C	40	7.915451	0.98560	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.4516	17.6284	0.88099	0.0:1.0:0.0:0.0	.	.	.	.	X	584;558;649;514;579;514	.	ENSP00000316051:S579X	S	+	2	0	ELP2	31994955	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.677000	0.61634	2.765000	0.95021	0.655000	0.94253	TCA		0.363	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		G	33740957	C	G	33740957	4	3	230	1	0	0	0	0	0	1	0	0	5080	838	29	5	1817	5	ELP2	18	33740957	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	19635015	33740957	44336291	85	16214											
RTTN	25914	broad.mit.edu	37	chr18	67684705	67684705	+	Frame_Shift_Del	DEL	G	G	-																															cattatgaaagataagaagaGgcaataaagggctgctcttg																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67684705delG	ENST00000255674.6	-	46	6645	c.6359delC	c.(6358-6360)cctfs	p.P2120fs	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'Flank	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2120					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATAAGAAGAGGCAATAAAGG	0.388																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(6358-6360)cctfs		Homo sapiens rotatin (RTTN), mRNA.							114	110	111					18																	67684705		1895	4120	6015	SO:0001589	frameshift_variant	25914						binding	g.chr18:67684705delG	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6359delC	18.37:g.67684705delG	ENSP00000255674:p.Pro2120fs					RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs	p.P2120fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			45	6427	-		Esophageal squamous(42;0.129)	2120					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	ENST00000255674.6	37	c.6359delC	CCDS42443.1																																																																																				0.388	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		-	67684705	G	-	67684705	7	5	230	1	0	1	0	1	0	0	0	0	13737	1000	35	0	337	0	RTTN	18	67684705	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	33943748	67684705	10392543	86	16215											
RTTN	25914	broad.mit.edu	37	chr18	67871471	67871471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactctactgcaccaacgTcaaccaaatgttggactgct	13	9	7	12	1	2	1	1	0	1	1	2	2	2	2	2	1	6	3	2	1	5	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67871471T>C	ENST00000255674.6	-	3	534	c.248A>G	c.(247-249)gAc>gGc	p.D83G	RTTN_ENST00000454359.1_Missense_Mutation_p.D83G|RTTN_ENST00000437017.1_Missense_Mutation_p.D83G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	83					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGCACCAACGTCAACCAAATG	0.388																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(247-249)gAc>gGc		Homo sapiens rotatin (RTTN), mRNA.							106	105	105					18																	67871471		1879	4109	5988	SO:0001583	missense	25914						binding	g.chr18:67871471T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.248A>G	18.37:g.67871471T>C	ENSP00000255674:p.Asp83Gly					RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G	p.D83G	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			2	316	-		Esophageal squamous(42;0.129)	83					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.248A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137766	0.37728	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.77229	1.19;-1.08;1.19	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.72087	0.3417	M	0.62723	1.935	0.41815	D	0.989991	B;B	0.18968	0.009;0.032	B;B	0.20767	0.013;0.031	T	0.67385	-0.5684	10	0.28530	T	0.3	.	8.3428	0.32254	0.0:0.1173:0.0:0.8827	.	83;83	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	G	83	ENSP00000255674:D83G;ENSP00000402352:D83G;ENSP00000399520:D83G	ENSP00000255674:D83G	D	-	2	0	RTTN	66022451	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	4.781000	0.62389	2.107000	0.64212	0.528000	0.53228	GAC		0.388	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		C	67871471	T	C	67871471	3	2	230	1	0	0	0	0	1	0	0	0	13737	1667	58	4	6620	4	RTTN	18	67871471	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	186766	67871471	10205777	87	16216											
NFATC1	4772	broad.mit.edu	37	chr18	77246687	77246687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaacactcgctctgcccCagcagcccctctcctccact	6	8	5	22	2	2	0	0	0	2	0	6	1	3	0	6	0	4	2	6	0	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77246687C>T	ENST00000427363.2	+	9	2532	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000545796.1_Silent_p.P372P|NFATC1_ENST00000329101.4_Silent_p.P831P|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	844	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGCTCTGCCCCAGCAGCCCCT	0.751																																					GBM(151;1210 2593 28719 45011)	uc010xfg.2																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2530-2532)ccC>ccT		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.							20	20	20					18																	77246687		2178	4276	6454	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246687C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2532C>T	18.37:g.77246687C>T						NFATC1_uc002lnd.3_Intron|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Silent_p.P372P|NFATC1_uc002lnf.3_Silent_p.P831P|NFATC1_uc002lng.3_Intron|NFATC1_uc010xfk.2_Intron	p.P844P	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	8	2985	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	844			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2532C>T																																																																																					0.751	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		T	77246687	C	T	77246687	2	4	230	1	0	0	0	0	0	0	0	1	10361	581	21	3		3	NFATC1	18	77246687	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	9375216	77246687	830561	88	16217											
PQLC1	80148	broad.mit.edu	37	chr18	77679330	77679330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtagcccgccacgccCgtgaaggccaggacgcactg	8	5	14	14	4	0	2	0	2	0	0	0	3	0	3	4	2	1	2	4	2	2	1	rs372250799	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77679330C>T	ENST00000397778.2	-	5	644	c.462G>A	c.(460-462)acG>acA	p.T154T	PQLC1_ENST00000409073.1_Silent_p.T71T|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Silent_p.T136T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	154						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CCGCCACGCCCGTGAAGGCCA	0.627													C|||	2	0.000399361	0.0015	0	5008	,	,		20727	0		0	False		,,,				2504	0					uc002lnl.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(460-462)acG>acA		Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.		C	,,	1,4405	2.1+/-5.4	0,1,2202	91	73	79		,408,462	-4.2	0.4	18		79	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous	PQLC1	NM_001146343.1,NM_001146345.1,NM_025078.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,136/254,154/272	77679330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80148					integral to membrane		g.chr18:77679330C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.462G>A	18.37:g.77679330C>T						PQLC1_uc010dre.2_Silent_p.T71T|PQLC1_uc002lnk.2_Silent_p.T136T|PQLC1_uc010xfm.1_Intron	p.T154T	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	4	634	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	154					B7Z7D9|G5E989|Q9H6D0	Silent	SNP	ENST00000397778.2	37	c.462G>A	CCDS12020.1																																																																																				0.627	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		T	77679330	C	T	77679330	2	4	230	1	0	0	0	0	0	0	0	1	12418	639	23	2		2	PQLC1	18	77679330	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	432643	77679330	397918	89	16218											
FBN3	84467	broad.mit.edu	37	chr19	8176044	8176044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttgtcacagaggtccaCgttctcggcacattcatccc	7	10	8	16	3	3	1	2	0	1	1	6	1	5	1	3	2	0	3	3	2	0	3	rs117092804	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8176044C>T	ENST00000600128.1	-	33	4522	c.4108G>A	c.(4108-4110)Gtg>Atg	p.V1370M	FBN3_ENST00000270509.2_Missense_Mutation_p.V1370M|FBN3_ENST00000601739.1_Missense_Mutation_p.V1370M			Q75N90	FBN3_HUMAN	fibrillin 3	1370	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTCCACGTTCTCGGCA	0.657													C|||	18	0.00359425	0	0	5008	,	,		18574	0.0159		0	False		,,,				2504	0.002					uc002mjf.3																			0		p.N1369N(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4108-4110)Gtg>Atg		Homo sapiens fibrillin 3 (FBN3), mRNA.							80	71	74					19																	8176044		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176044C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4108G>A	19.37:g.8176044C>T	ENSP00000470498:p.Val1370Met						p.V1370M	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			31	4125	-			1370			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4108G>A	CCDS12196.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	12.24	1.878447	0.33162	.	.	ENSG00000142449	ENST00000270509	D	0.87650	-2.28	3.78	2.66	0.31614	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	T	0.65883	0.2734	N	0.12569	0.235	0.46011	D	0.998815	B	0.25743	0.133	B	0.19148	0.024	T	0.61652	-0.7019	10	0.42905	T	0.14	.	7.9165	0.29820	0.0:0.8429:0.0:0.1571	.	1370	Q75N90	FBN3_HUMAN	M	1370	ENSP00000270509:V1370M	ENSP00000270509:V1370M	V	-	1	0	FBN3	8082044	0.895000	0.30542	0.117000	0.21633	0.010000	0.07245	0.740000	0.26188	0.442000	0.26555	0.462000	0.41574	GTG		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8176044	C	T	8176044	3	4	230	1	0	0	0	0	1	0	0	0	5704	536	19	1	4449	1	FBN3	19	8176044	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		8176044	50952939	90	16219											
FBN3	84467	broad.mit.edu	37	chr19	8201272	8201272	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctggccgcggctcacCaatgcactcgccgcgcacgt	6	6	10	19	6	1	0	1	0	0	0	3	0	2	0	5	2	1	3	5	2	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8201272C>T	ENST00000600128.1	-	11	1759	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	FBN3_ENST00000270509.2_Splice_Site_p.D449N|FBN3_ENST00000601739.1_Splice_Site_p.D449N			Q75N90	FBN3_HUMAN	fibrillin 3	449	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCGGCTCACCAATGCACTCG	0.652																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.e10+1		Homo sapiens fibrillin 3 (FBN3), mRNA.							63	60	61					19																	8201272		2203	4300	6503	SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201272C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1345+1G>A	19.37:g.8201272C>T							p.D449_splice	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			10	1362	-			449			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1345_splice	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.934809	0.73442	.	.	ENSG00000142449	ENST00000270509	D	0.99051	-5.37	4.4	4.4	0.53042	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99013	0.9663	M	0.72479	2.2	0.47737	D	0.999509	D	0.76494	0.999	D	0.64776	0.929	D	0.99391	1.0925	9	.	.	.	.	16.9807	0.86326	0.0:1.0:0.0:0.0	.	449	Q75N90	FBN3_HUMAN	N	449	ENSP00000270509:D449N	.	D	-	1	0	FBN3	8107272	1.000000	0.71417	0.879000	0.34478	0.007000	0.05969	6.931000	0.75863	1.997000	0.58415	0.462000	0.41574	GAT		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	Missense_Mutation	T	8201272	C	T	8201272	5	4	230	1	0	0	0	0	0	0	1	0	5704	608	21	3	7300	3	FBN3	19	8201272	Splice_Site	SNP	C	TCGA-32-2495-01A-01D-1353-08	25228	8201272	50927711	91	16220											
RDH8	50700	broad.mit.edu	37	chr19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaggggaagcttctggCgcaggtttctatggctgagt	6	13	16	6	1	2	2	0	2	2	0	2	3	2	3	0	5	1	5	0	5	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:10131987C>T	ENST00000171214.1	+	5	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V	RDH8_ENST00000591589.1_Missense_Mutation_p.A218V	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	198					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602																																						uc002mmr.3																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(592-594)gCg>gTg		Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	Vitamin A(DB00162)						82	78	80					19																	10131987		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131987C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.593C>T	19.37:g.10131987C>T	ENSP00000171214:p.Ala198Val						p.A198V	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	842	+			198					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.593C>T		.	.	.	.	.	.	.	.	.	.	C	14.75	2.627588	0.46944	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	5.17	1.54	0.23209	NAD(P)-binding domain (1);	0.228496	0.43747	D	0.000533	D	0.87237	0.6127	L	0.38175	1.15	0.29073	N	0.883165	P	0.36315	0.547	B	0.32289	0.143	T	0.82051	-0.0649	10	0.39692	T	0.17	.	12.1111	0.53840	0.4104:0.5896:0.0:0.0	.	198	Q9NYR8	RDH8_HUMAN	V	198	ENSP00000171214:A198V	ENSP00000171214:A198V	A	+	2	0	RDH8	9992987	0.985000	0.35326	0.991000	0.47740	0.910000	0.53928	2.304000	0.43655	1.015000	0.39444	0.462000	0.41574	GCG		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	10131987	C	T	10131987	3	4	230	1	0	0	0	0	1	0	0	0	13196	768	27	1	611	1	RDH8	19	10131987	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1930715	10131987	48996996	92	16221											
OR10H5	284433	broad.mit.edu	37	chr19	15905052	15905052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgtacctcttcctgtgtgCcctctccatcaccgagatcc	6	12	6	17	1	3	1	1	0	2	1	6	2	5	1	6	0	2	1	6	0	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:15905052C>T	ENST00000308940.8	+	1	292	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTCCTGTGTGCCCTCTCCATC	0.627																																						uc010xos.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(193-195)gCc>gTc		Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.							213	168	183					19																	15905052		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905052C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.194C>T	19.37:g.15905052C>T	ENSP00000310704:p.Ala65Val						p.A65V	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			0	194	+			65					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.194C>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	0.102	-1.151256	0.01700	.	.	ENSG00000172519	ENST00000308940	T	0.03065	4.06	3.47	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.420009	0.20149	N	0.098205	T	0.01523	0.0049	N	0.02658	-0.545	0.27884	N	0.939569	B	0.06786	0.001	B	0.12156	0.007	T	0.47045	-0.9147	10	0.10902	T	0.67	.	8.9417	0.35733	0.0:0.8832:0.0:0.1168	.	65	Q8NGA6	O10H5_HUMAN	V	65	ENSP00000310704:A65V	ENSP00000310704:A65V	A	+	2	0	OR10H5	15766052	0.026000	0.19158	0.243000	0.24186	0.201000	0.24016	1.199000	0.32235	0.563000	0.29222	0.585000	0.79938	GCC		0.627	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			T	15905052	C	T	15905052	3	4	230	1	0	0	0	0	1	0	0	0	10909	739	26	3	196	3	OR10H5	19	15905052	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5773065	15905052	43223931	93	16222											
TMEM59L	25789	broad.mit.edu	37	chr19	18724803	18724803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaagctccaagcccaatgCcacccaaactgagtgtgaag	14	5	9	13	0	0	3	0	2	0	1	1	3	1	3	4	0	4	1	4	0	5	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:18724803C>T	ENST00000600490.1	+	3	478	c.293C>T	c.(292-294)gCc>gTc	p.A98V	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A98V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	98						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGCCCAATGCCACCCAAACT	0.652																																						uc010ebu.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(292-294)gCc>gTc		Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.							43	47	46					19																	18724803		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18724803C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.293C>T	19.37:g.18724803C>T	ENSP00000470879:p.Ala98Val					TMEM59L_uc002njy.4_Missense_Mutation_p.A98V	p.A98V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			1	380	+			98						Missense_Mutation	SNP	ENST00000600490.1	37	c.293C>T	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186122	0.38609	.	.	ENSG00000105696	ENST00000262817	T	0.47528	0.84	4.54	3.25	0.37280	.	0.109575	0.64402	D	0.000012	T	0.38480	0.1042	L	0.34521	1.04	0.29168	N	0.87729	P	0.40731	0.728	B	0.42692	0.395	T	0.27905	-1.0060	10	0.29301	T	0.29	-26.0221	12.2058	0.54350	0.0:0.8957:0.0:0.1043	.	98	Q9UK28	TM59L_HUMAN	V	98	ENSP00000262817:A98V	ENSP00000262817:A98V	A	+	2	0	TMEM59L	18585803	0.926000	0.31397	1.000000	0.80357	0.935000	0.57460	1.652000	0.37313	2.056000	0.61249	0.561000	0.74099	GCC		0.652	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			T	18724803	C	T	18724803	3	4	230	1	0	0	0	0	1	0	0	0	16183	739	26	3	299	3	TMEM59L	19	18724803	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	2819751	18724803	40404180	94	16223											
TSHZ3	57616	broad.mit.edu	37	chr19	31767776	31767776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcgttacaaaagaagaCggggtggccagtgtccaagt	14	7	12	8	2	0	2	0	0	0	2	2	2	1	2	2	3	1	1	2	3	6	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:31767776C>T	ENST00000240587.4	-	2	3250	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	975					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAAAAGAAGACGGGGTGGCCA	0.512																																						uc002nsy.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2923-2925)Gtc>Atc		Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.							71	66	68					19																	31767776		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767776C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2923G>A	19.37:g.31767776C>T	ENSP00000240587:p.Val975Ile						p.V975I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			1	2988	-	Esophageal squamous(110;0.226)		975					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2923G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485260	0.44147	.	.	ENSG00000121297	ENST00000240587	T	0.13196	2.61	5.84	5.84	0.93424	.	0.059413	0.64402	D	0.000003	T	0.26702	0.0653	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.01124	-1.1444	10	0.23891	T	0.37	-28.9143	20.1434	0.98067	0.0:1.0:0.0:0.0	.	975	Q63HK5	TSH3_HUMAN	I	975	ENSP00000240587:V975I	ENSP00000240587:V975I	V	-	1	0	TSHZ3	36459616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.643000	0.61390	2.760000	0.94817	0.591000	0.81541	GTC		0.512	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31767776	C	T	31767776	3	4	230	1	0	0	0	0	1	0	0	0	16622	536	19	1	326	1	TSHZ3	19	31767776	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	13042973	31767776	27361207	95	16224											
RYR1	6261	broad.mit.edu	37	chr19	38990563	38990563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctttggtgaggaaccGcctgaagaaaaccgggtgca	11	7	14	9	2	0	3	0	2	0	1	0	4	0	4	3	3	5	3	3	3	4	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:38990563G>A	ENST00000359596.3	+	45	7230	c.7230G>A	c.(7228-7230)ccG>ccA	p.P2410P	RYR1_ENST00000355481.4_Silent_p.P2410P|RYR1_ENST00000360985.3_Silent_p.P2410P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2410	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGAGGAACCGCCTGAAGAAA	0.632																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7228-7230)ccG>ccA		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						103	87	92					19																	38990563		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990563G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7230G>A	19.37:g.38990563G>A						RYR1_uc002oiu.3_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR	p.P2410P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7360	+	all_cancers(60;7.91e-06)		2410			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7230G>A	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38990563	G	A	38990563	2	1	230	1	0	0	0	0	0	0	0	1	13768	1074	38	1		1	RYR1	19	38990563	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	7222787	38990563	20138420	96	16225											
PVRL2	5819	broad.mit.edu	37	chr19	45389216	45389216	+	Frame_Shift_Del	DEL	A	A	-																															tggagggacctccctcctacAagccaccaaccccaaaagcg																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:45389216delA	ENST00000252483.5	+	7	1219	c.1219delA	c.(1219-1221)aagfs	p.K407fs	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	407					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCTCCTACAAGCCACCAAC	0.602																																						uc002ozw.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1219-1221)aagfs		Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.							81	100	94					19																	45389216		2180	4289	6469	SO:0001589	frameshift_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45389216delA	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1219delA	19.37:g.45389216delA	ENSP00000252483:p.Lys407fs						p.K407fs	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1609	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	407					A8K5L5|O75455|Q6IBI6|Q96J29	Frame_Shift_Del	DEL	ENST00000252483.5	37	c.1219delA	CCDS42576.1																																																																																				0.602	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		-	45389216	A	-	45389216	7	5	230	1	0	1	0	1	0	0	0	0	12840	131	5	0	1647	0	PVRL2	19	45389216	Frame_Shift_Del	DEL	A	TCGA-32-2495-01A-01D-1353-08	6398653	45389216	13739767	97	16226											
FUT1	2523	broad.mit.edu	37	chr19	49253750	49253750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttacaccactccatgccGttgctggtgaccacgaaaac	10	10	7	14	2	1	1	0	1	1	0	2	2	2	1	4	1	4	2	4	1	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:49253750G>A	ENST00000310160.3	-	4	1763	c.789C>T	c.(787-789)aaC>aaT	p.N263N	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	263					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		ACTCCATGCCGTTGCTGGTGA	0.617																																						uc002pkk.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(787-789)aaC>aaT		Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.							127	108	114					19																	49253750		2203	4300	6503	SO:0001819	synonymous_variant	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253750G>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.789C>T	19.37:g.49253750G>A						FUT1_uc021uwy.1_Silent_p.N263N	p.N263N	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	3	1764	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	263					O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	c.789C>T	CCDS12733.1																																																																																				0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		A	49253750	G	A	49253750	2	1	230	1	0	0	0	0	0	0	0	1	6101	1136	40	1		1	FUT1	19	49253750	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	3864534	49253750	9875233	98	16227											
ZNF528	84436	broad.mit.edu	37	chr19	52918768	52918768	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtgaatgtggcaaggtCtttagttgcagttcaaagct	10	13	12	6	0	2	1	1	1	1	0	2	1	2	1	0	2	3	6	0	2	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:52918768C>G	ENST00000360465.3	+	7	1089	c.663C>G	c.(661-663)gtC>gtG	p.V221V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGCAAGGTCTTTAGTTGCA	0.413																																						uc002pzh.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(661-663)gtC>gtG		Homo sapiens zinc finger protein 528 (ZNF528), mRNA.							106	99	102					19																	52918768		2203	4300	6503	SO:0001819	synonymous_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918768C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.663C>G	19.37:g.52918768C>G						ZNF528_uc002pzi.3_5'UTR	p.V221V	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	6	1089	+			221					B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	c.663C>G	CCDS33091.1																																																																																				0.413	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		G	52918768	C	G	52918768	2	3	230	1	0	0	0	0	0	0	0	1	17966	900	32	5		5	ZNF528	19	52918768	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	3665018	52918768	6210215	99	16228											
KIR2DS4	3811	broad.mit.edu	37	chr19	55349278	55349278	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacggttctgttcctcaCtccccctatcagttgtcagc	5	14	7	15	1	4	0	3	0	1	0	6	0	6	0	3	1	3	4	3	1	2	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:55349278C>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTCCTCACTCCCCCTATC	0.512																																						uc002qhm.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(316-318)caC>caA		Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.							356	303	321					19																	55349278		2177	4201	6378	SO:0001627	intron_variant	3809				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55349278C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+12745C>A	19.37:g.55349278C>A						KIR3DL2_uc010yfj.2_Missense_Mutation_p.H99Q|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.H106Q|KIR3DL2_uc002qhn.1_Missense_Mutation_p.H53Q	p.H106Q	NM_012314	NP_036446	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	364	+			201					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.318C>A																																																																																					0.512	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		A	55349278	C	A	55349278	1	1	230	0	1	0	0	0	0	0	0	0	8319	564	20	5		5	KIR2DS4	19	55349278	Intron	SNP	C	TCGA-32-2495-01A-01D-1353-08	2430510	55349278	3779705	100	16229											
ZNF274	10782	broad.mit.edu	37	chr19	58723892	58723892	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaaattcctcctagaaaaCgattgcgcaaacgtgactca	16	8	6	11	3	1	2	1	1	0	1	3	3	3	2	2	0	3	1	2	0	6	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:58723892C>T	ENST00000326804.4	+	9	1801	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Nonsense_Mutation_p.R343*|ZNF274_ENST00000345813.3_Nonsense_Mutation_p.R416*	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCTAGAAAACGATTGCGCAA	0.428																																						uc002qrq.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(1342-1344)Cga>Tga		Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.							102	101	101					19																	58723892		2021	4189	6210	SO:0001587	stop_gained	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723892C>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1342C>T	19.37:g.58723892C>T	ENSP00000321209:p.Arg448*					ZNF274_uc002qrr.1_Nonsense_Mutation_p.R416*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R343*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208*	p.R448*	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	8	1801	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	449					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Nonsense_Mutation	SNP	ENST00000326804.4	37	c.1342C>T		.	.	.	.	.	.	.	.	.	.	C	37	5.982880	0.97173	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	.	.	.	4.55	-5.66	0.02451	.	2.120670	0.02460	N	0.086483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	0.0258	1.0181	0.01512	0.4609:0.1858:0.1265:0.2268	.	.	.	.	X	448;416;343	.	ENSP00000321209:R448X	R	+	1	2	ZNF274	63415704	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.337000	0.07852	-0.574000	0.05990	0.561000	0.74099	CGA		0.428	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		T	58723892	C	T	58723892	4	4	230	1	0	0	0	0	0	1	0	0	17806	528	19	1	1370	1	ZNF274	19	58723892	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	3374614	58723892	405091	101	16230											
WFDC11	259239	broad.mit.edu	37	chr20	44278019	44278020	+	Missense_Mutation	DNP	TT	TT	AA																															tttggctttccccagcattcTtcaagtaacaattccttccc																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr20:44278019_44278020TT>AA	ENST00000356562.2	-	4	340_341	c.119_120AA>TT	c.(118-120)gAA>gTT	p.E40V	WFDC11_ENST00000324384.3_Missense_Mutation_p.E40V			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	40						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCCAGCATTCTTCAAGTAACAA	0.391																																						uc002xpa.3																			0				endometrium(1)|lung(4)	5						c.(118-120)gaa>gTT		Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.																																				SO:0001583	missense	259239					extracellular region		g.chr20:44278019_44278020TT>AA	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"WAP four-disulfide core domain containing"	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.119_120delinsAA	20.37:g.44278019_44278020delinsAA	ENSP00000348968:p.Glu40Val						p.E40V	NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN			3	314_315	-		Myeloproliferative disorder(115;0.0122)	40					E1P624|Q5TGZ6	Missense_Mutation	DNP	ENST00000356562.2	37	c.119_120AA>TT	CCDS13364.1																																																																																				0.391	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			AA	44278020	TT	AA	44278019	3	1	230	1	0	0	0	0	1	0	0	0	17346	1606	56	5	151	5	WFDC11	20	44278019	Missense_Mutation	DNP	TT	TCGA-32-2495-01A-01D-1353-08		44278019	18747501	102	16231											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971188	31971188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttccgtagtagctgccGcacatcgtgatggttgtgga	7	13	13	8	3	0	1	0	1	0	0	2	2	1	2	2	2	2	6	2	2	3	5	rs201729927		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:31971188G>A	ENST00000334897.3	-	1	31	c.6C>T	c.(4-6)tgC>tgT	p.C2C	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	2						intermediate filament (GO:0005882)		p.C2C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512													A|||	1	0.000199681	0	0	5008	,	,		18351	0.001		0	False		,,,				2504	0					uc011adc.2																			2	Substitution - coding silent(2)	p.C2C(4)	kidney(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(4-6)tgC>tgT		Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.		A		0,4406		0,0,2203	191	158	169		6	3.3	1	21		169	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	KRTAP6-2	NM_181604.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2/63	31971188	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	337967					intermediate filament		g.chr21:31971188G>A	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"Keratin associated proteins"	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.6C>T	21.37:g.31971188G>A						KRTAP22-1_uc011add.2_5'Flank	p.C2C	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN			0	6	-			2						Silent	SNP	ENST00000334897.3	37	c.6C>T	CCDS13600.1																																																																																				0.512	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			A	31971188	G	A	31971188	2	1	230	1	0	0	0	0	0	0	0	1	8570	1079	38	1		1	KRTAP6-2	21	31971188	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08		31971188	16158707	103	16232											
DSCR6	53820	broad.mit.edu	37	chr21	38380461	38380461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgccgttccagccccGcgccgtggcgaccttggatc	3	8	13	17	6	0	0	0	0	0	0	2	2	1	1	6	2	2	2	6	2	0	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:38380461G>A	ENST00000329553.2	+	2	319	c.109G>A	c.(109-111)Gcg>Acg	p.A37T	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	37					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TTCCAGCCCCGCGCCGTGGCG	0.582																																						uc002yvv.3																			0				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(109-111)Gcg>Acg		Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.							48	47	47					21																	38380461		2203	4300	6503	SO:0001583	missense	53820					nucleus		g.chr21:38380461G>A	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.109G>A	21.37:g.38380461G>A	ENSP00000331734:p.Ala37Thr					DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	p.A37T	NM_018962	NP_061835	P57055	DSCR6_HUMAN			1	319	+		Myeloproliferative disorder(46;0.0632)	37						Missense_Mutation	SNP	ENST00000329553.2	37	c.109G>A	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572318	0.03882	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.6	-1.28	0.09318	.	0.557684	0.15879	N	0.240136	T	0.12347	0.0300	N	0.02802	-0.49	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33574	-0.9863	9	0.12430	T	0.62	0.041	8.9943	0.36043	0.4177:0.0:0.5823:0.0	.	37	P57055	DSCR6_HUMAN	T	37	.	ENSP00000331734:A37T	A	+	1	0	DSCR6	37302331	0.003000	0.15002	0.000000	0.03702	0.052000	0.14988	0.616000	0.24344	-0.291000	0.09012	0.561000	0.74099	GCG		0.582	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			A	38380461	G	A	38380461	3	1	230	1	0	0	0	0	1	0	0	0	4773	1087	38	1	115	1	DSCR6	21	38380461	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	6409273	38380461	9749434	104	16233											
MCM3AP	8888	broad.mit.edu	37	chr21	47662773	47662773	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcttgttcccacgacAaaggaacatcatattttttc	11	13	6	11	1	1	0	1	0	0	0	3	2	2	1	2	2	1	2	2	2	3	6			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:47662773A>C	ENST00000397708.1	-	26	5623	c.5369T>G	c.(5368-5370)tTg>tGg	p.L1790W	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.L1790W|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1790	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCCCACGACAAAGGAACATC	0.403																																						uc002zir.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5368-5370)tTg>tGg		Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.							123	102	109					21																	47662773		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47662773A>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5369T>G	21.37:g.47662773A>C	ENSP00000380820:p.Leu1790Trp					MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L285W|MCM3AP_uc002zip.1_Missense_Mutation_p.L531W|MCM3AP_uc002ziq.1_Missense_Mutation_p.L717W|MCM3AP-AS1_uc002zis.1_Intron	p.L1790W	NM_003906	NP_003897	O60318	MCM3A_HUMAN			24	5405	-	Breast(49;0.112)		1790					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5369T>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457854	0.63401	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03553	3.89;3.89	5.84	3.32	0.38043	.	0.665977	0.15510	N	0.258581	T	0.05960	0.0155	L	0.29908	0.895	0.23282	N	0.997989	D;D	0.63880	0.988;0.993	P;P	0.53360	0.533;0.724	T	0.35500	-0.9786	10	0.45353	T	0.12	-4.8483	8.9032	0.35507	0.7918:0.1361:0.072:0.0	.	1790;285	O60318;B3KT88	MCM3A_HUMAN;.	W	1790;1790;285	ENSP00000380820:L1790W;ENSP00000291688:L1790W	ENSP00000291688:L1790W	L	-	2	0	MCM3AP	46487201	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	1.576000	0.36504	1.033000	0.39918	0.533000	0.62120	TTG		0.403	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		C	47662773	A	C	47662773	3	2	230	1	0	0	0	0	1	0	0	0	9388	131	5	5	589	5	MCM3AP	21	47662773	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	9282312	47662773	467122	105	16234											
HSCB	150274	broad.mit.edu	37	chr22	29147228	29147228	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaatggttttctttttcaGctaaacagaaagaatttact	14	15	6	6	0	2	3	1	0	1	3	2	3	2	3	0	1	3	2	0	1	6	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr22:29147228G>A	ENST00000216027.3	+	5	633		c.e5-1		HSCB_ENST00000495977.1_Splice_Site|HSCB_ENST00000398941.2_Splice_Site	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone						iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						TTCTTTTTCAGCTAAACAGAA	0.299																																						uc003aea.3																			0				kidney(1)|lung(2)|skin(1)	4						c.e5-1		Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.							59	56	57					22																	29147228		2201	4298	6499	SO:0001630	splice_region_variant	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29147228G>A	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"Heat shock proteins / DNAJ (HSP40)"	28913	protein-coding gene	gene with protein product	"DnaJ (Hsp40) homolog, subfamily C, member 20"	608142	"HscB iron-sulfur cluster co-chaperone homolog (E. coli)"			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.569-1G>A	22.37:g.29147228G>A							p.A190_splice	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			5	610	+			190					Q9BWS7	Splice_Site	SNP	ENST00000216027.3	37	c.569_splice	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726304	0.48833	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7638	0.69623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSCB	27477228	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	4.779000	0.62375	2.629000	0.89072	0.563000	0.77884	.		0.299	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002	Intron	A	29147228	G	A	29147228	5	1	230	1	0	0	0	0	0	0	1	0	7374	985	34	3	586	3	HSCB	22	29147228	Splice_Site	SNP	G	TCGA-32-2495-01A-01D-1353-08		29147228	22157338	106	16235											
ARSH	347527	broad.mit.edu	37	chrX	2933417	2933417	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcatgctgaaggaggcActtgctttcattgaaaggta	10	12	10	9	0	2	2	2	2	0	0	3	3	3	3	1	3	2	4	1	3	3	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:2933417A>G	ENST00000381130.2	+	4	747	c.747A>G	c.(745-747)gcA>gcG	p.A249A		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	249					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAGGCACTTGCTTTCA	0.398																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(745-747)gcA>gcG		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							85	67	73					X																	2933417		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933417A>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.747A>G	X.37:g.2933417A>G							p.A249A	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			3	747	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	249						Silent	SNP	ENST00000381130.2	37	c.747A>G	CCDS35198.1																																																																																				0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		G	2933417	A	G	2933417	2	3	230	1	0	0	0	0	0	0	0	1	993	146	6	4		4	ARSH	23	2933417	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08		2933417	152337143	107	16236											
FRMPD4	9758	broad.mit.edu	37	chrX	12736450	12736450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttagataacccagaggacGctgactcgtccacctgcgac	11	7	9	14	3	0	3	0	1	0	2	2	5	1	4	3	1	2	1	3	1	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:12736450G>A	ENST00000380682.1	+	16	4011	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1169					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCAGAGGACGCTGACTCGTC	0.542																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3505-3507)Gct>Act		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							151	134	140					X																	12736450		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736450G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3505G>A	X.37:g.12736450G>A	ENSP00000370057:p.Ala1169Thr					FRMPD4_uc011mij.2_Missense_Mutation_p.A1161T	p.A1169T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	4011	+			1169					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3505G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335720	0.11013	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05925	3.37	5.4	2.55	0.30701	.	0.428374	0.24566	N	0.037433	T	0.03564	0.0102	N	0.13235	0.315	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.09377	0.004;0.004	T	0.46898	-0.9158	10	0.17832	T	0.49	-0.8841	8.8254	0.35052	0.3628:0.0:0.6372:0.0	.	1161;1169	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	1169;1160;1158	ENSP00000370057:A1169T	ENSP00000304583:A1158T	A	+	1	0	FRMPD4	12646371	0.012000	0.17670	0.614000	0.29051	0.786000	0.44442	1.453000	0.35167	0.087000	0.17167	0.600000	0.82982	GCT		0.542	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12736450	G	A	12736450	3	1	230	1	0	0	0	0	1	0	0	0	6059	1087	38	1	3567	1	FRMPD4	23	12736450	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9803033	12736450	142534110	108	16237											
CXorf59	286464	broad.mit.edu	37	chrX	36091481	36091481	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattccagagactataagaaGgtgagagtcccatgtttctc	12	12	9	8	0	1	3	0	1	1	3	4	5	3	3	2	1	0	1	2	1	4	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:36091481G>T	ENST00000313548.4	+	4	602	c.416G>T	c.(415-417)aGg>aTg	p.R139M		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	139						integral component of membrane (GO:0016021)											ACTATAAGAAGGTGAGAGTCC	0.343																																						uc004ddk.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.e4+1		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							66	60	62					X																	36091481		2202	4297	6499	SO:0001630	splice_region_variant	286464					integral to membrane		g.chrX:36091481G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.416+1G>T	X.37:g.36091481G>T							p.R139_splice	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	602	+			139						Missense_Mutation	SNP	ENST00000313548.4	37	c.416_splice	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504187	0.44558	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.09	5.09	0.68999	.	0.086219	0.39687	N	0.001281	T	0.45935	0.1367	L	0.27053	0.805	0.28339	N	0.921413	D	0.76494	0.999	P	0.58820	0.846	T	0.41627	-0.9498	9	0.54805	T	0.06	.	12.9162	0.58207	0.0:0.0:1.0:0.0	.	139	Q8N9S7	CX059_HUMAN	M	139	.	ENSP00000324767:R139M	R	+	2	0	CXorf59	36001402	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	6.681000	0.74523	2.105000	0.64084	0.529000	0.55759	AGG		0.343	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Missense_Mutation	T	36091481	G	T	36091481	5	4	230	1	0	0	0	0	0	0	1	0	4115	1014	35	5	426	5	CXorf59	23	36091481	Splice_Site	SNP	G	TCGA-32-2495-01A-01D-1353-08	23355031	36091481	119179079	109	16238											
BCOR	54880	broad.mit.edu	37	chrX	39911637	39911637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaaggacatccgaaagcaGtagccagtttcgtggcctac	11	9	10	11	2	0	0	0	0	0	0	2	2	1	1	3	2	3	3	3	2	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:39911637G>T	ENST00000378444.4	-	15	5221	c.4993C>A	c.(4993-4995)Ctg>Atg	p.L1665M	BCOR_ENST00000342274.4_Missense_Mutation_p.L1631M|BCOR_ENST00000378463.1_Missense_Mutation_p.L508M|BCOR_ENST00000378455.4_Missense_Mutation_p.L1613M|BCOR_ENST00000397354.3_Missense_Mutation_p.L1631M	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1665	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGAAAGCAGTAGCCAGTTT	0.393			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4993-4995)Ctg>Atg		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							42	40	40					X																	39911637		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911637G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4993C>A	X.37:g.39911637G>T	ENSP00000367705:p.Leu1665Met					BCOR_uc004dep.4_Missense_Mutation_p.L1631M|BCOR_uc004deo.4_Missense_Mutation_p.L1613M|BCOR_uc010nhb.3_3'UTR|BCOR_uc004dem.4_Missense_Mutation_p.L1631M	p.L1665M	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			14	5285	-			1665					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.4993C>A	CCDS48093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702064|2.702064	0.48307|0.48307	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274|ENST00000427012	T;T;T;T;T;T|.	0.79454|.	-1.27;0.0;0.26;0.25;0.14;0.25|.	5.5|5.5	1.18|1.18	0.20946|0.20946	.|.	.|.	.|.	.|.	.|.	T|T	0.64494|0.64494	0.2603|0.2603	M|M	0.71036|0.71036	2.16|2.16	0.35632|0.35632	D|D	0.810275|0.810275	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;1.0|.	T|T	0.69580|0.69580	-0.5107|-0.5107	9|5	0.87932|.	D|.	0|.	-12.8966|-12.8966	11.2291|11.2291	0.48901|0.48901	0.3771:0.0:0.6229:0.0|0.3771:0.0:0.6229:0.0	.|.	1613;1665;1631|.	Q6W2J9-4;Q6W2J9;Q6W2J9-2|.	.;BCOR_HUMAN;.|.	M|N	535;508;1613;1631;1665;1631|281	ENSP00000408006:L535M;ENSP00000367724:L508M;ENSP00000367716:L1613M;ENSP00000380512:L1631M;ENSP00000367705:L1665M;ENSP00000345923:L1631M|.	ENSP00000345923:L1631M|.	L|T	-|-	1|2	2|0	BCOR|BCOR	39796581|39796581	0.330000|0.330000	0.24705|0.24705	0.822000|0.822000	0.32727|0.32727	0.637000|0.637000	0.38172|0.38172	0.805000|0.805000	0.27112|0.27112	0.357000|0.357000	0.24183|0.24183	0.594000|0.594000	0.82650|0.82650	CTG|ACT		0.393	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39911637	G	T	39911637	3	4	230	1	0	0	0	0	1	0	0	0	1386	1020	36	5	278	5	BCOR	23	39911637	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	3820156	39911637	115358923	110	16239											
HUWE1	10075	broad.mit.edu	37	chrX	53571567	53571567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagcccggcgcgtgtcGtcccggagctggatgatgac	5	10	15	11	5	0	2	0	2	0	0	2	4	1	4	2	3	2	2	2	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:53571567G>A	ENST00000342160.3	-	71	11662	c.11205C>T	c.(11203-11205)gaC>gaT	p.D3735D	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Silent_p.D3735D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3735					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D3625D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCGCGTGTCGTCCCGGAGCT	0.552																																						uc004dsp.3																			1	Substitution - coding silent(1)	p.D3625D(1)	large_intestine(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11203-11205)gaC>gaT		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							83	65	71					X																	53571567		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53571567G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11205C>T	X.37:g.53571567G>A						HUWE1_uc004dsn.3_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D	p.D3735D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			71	11607	-			3735					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.11205C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	6.773	0.511557	0.12944	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.52	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1667	0.25695	0.6672:0.0:0.3328:0.0	.	.	.	.	X	2769;573	.	.	R	-	1	2	HUWE1	53588292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.398000	0.34554	0.175000	0.19841	0.534000	0.68092	CGA		0.552	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53571567	G	A	53571567	2	1	230	1	0	0	0	0	0	0	0	1	7461	1136	40	1		1	HUWE1	23	53571567	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	13659930	53571567	101698993	111	16240											
OPHN1	4983	broad.mit.edu	37	chrX	67331781	67331781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgaatagctcctaggcGgtaatccaggttgtcagact	10	10	13	8	1	1	2	1	1	0	1	3	3	3	3	2	4	1	3	2	4	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:67331781G>A	ENST00000355520.5	-	18	2082	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	OPHN1_ENST00000540071.1_Missense_Mutation_p.R481C|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	481	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCTCCTAGGCGGTAATCCAGG	0.428																																						uc004dww.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1441-1443)Cgc>Tgc		Homo sapiens oligophrenin 1 (OPHN1), mRNA.							111	98	102					X																	67331781		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67331781G>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1441C>T	X.37:g.67331781G>A	ENSP00000347710:p.Arg481Cys					OPHN1_uc011mpg.2_Missense_Mutation_p.R481C	p.R481C	NM_002547	NP_002538	O60890	OPHN1_HUMAN			17	1735	-			481			Rho-GAP.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1441C>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878096	0.72294	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.23147	1.92;1.92	5.06	4.13	0.48395	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.62286	-0.6886	10	0.87932	D	0	.	11.2646	0.49104	0.0:0.0:0.8055:0.1945	.	481;481	F5H2E3;O60890	.;OPHN1_HUMAN	C	481	ENSP00000347710:R481C;ENSP00000438617:R481C	ENSP00000347710:R481C	R	-	1	0	OPHN1	67248506	1.000000	0.71417	0.974000	0.42286	0.944000	0.59088	2.375000	0.44283	2.346000	0.79739	0.600000	0.82982	CGC		0.428	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		A	67331781	G	A	67331781	3	1	230	1	0	0	0	0	1	0	0	0	10875	1116	39	2	995	2	OPHN1	23	67331781	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	13760214	67331781	87938779	112	16241											
TAF1	6872	broad.mit.edu	37	chrX	70598242	70598246	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-																															tgaagatggcagtgggtttgActatggcttcaaactgagaa																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:70598242_70598246delACTAT	ENST00000373790.4	+	7	1139_1143	c.1088_1092delACTAT	c.(1087-1092)gactatfs	p.DY363fs	TAF1_ENST00000276072.3_Frame_Shift_Del_p.DY384fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.DY384fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.DY363fs	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	363	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTGGGTTTGACTATGGCTTCAAAC	0.454																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1087-1092)gactatfs		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598242_70598246delACTAT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1088_1092delACTAT	X.37:g.70598242_70598246delACTAT	ENSP00000362895:p.Asp363fs					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Del_p.D384fs	p.D363fs	NM_138923	NP_620278	P21675	TAF1_HUMAN			6	1139_1143	+	Renal(35;0.156)	all_lung(315;0.000321)	363			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	c.1088_1092delACTAT	CCDS35325.1																																																																																				0.454	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		-	70598246	ACTAT	-	70598242	7	5	230	1	0	1	0	1	0	0	0	0	15510	275	10	0	1177	0	TAF1	23	70598242	Frame_Shift_Del	DEL	ACTAT	TCGA-32-2495-01A-01D-1353-08	3266461	70598242	84672318	113	16242											
CAPN6	827	broad.mit.edu	37	chrX	110494471	110494471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagacataacaagccccaGgttcttgcgatctgatgcag	12	9	9	11	1	3	2	1	1	2	1	3	3	3	2	2	1	4	2	2	1	2	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:110494471G>C	ENST00000324068.1	-	7	1104	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	CAPN6_ENST00000541758.1_Missense_Mutation_p.L58V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	313	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L313V(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAAGCCCCAGGTTCTTGCGA	0.393																																						uc004epc.2																			1	Substitution - Missense(1)	p.L313V(2)	lung(1)	cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(937-939)Ctg>Gtg		Homo sapiens calpain 6 (CAPN6), mRNA.							47	41	43					X																	110494471		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494471G>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.937C>G	X.37:g.110494471G>C	ENSP00000317214:p.Leu313Val					CAPN6_uc011msu.2_Missense_Mutation_p.L58V	p.L313V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			6	1128	-			313			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.937C>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762079	0.31228	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90620	-2.7;-2.7	5.82	1.95	0.26073	Peptidase C2, calpain, catalytic domain (3);	0.257368	0.33732	N	0.004618	D	0.90542	0.7036	M	0.70275	2.135	0.52099	D	0.999944	P	0.46395	0.877	P	0.49953	0.627	D	0.88302	0.2950	10	0.56958	D	0.05	.	7.6589	0.28392	0.2593:0.0:0.6303:0.1104	.	313	Q9Y6Q1	CAN6_HUMAN	V	313;58	ENSP00000317214:L313V;ENSP00000441736:L58V	ENSP00000317214:L313V	L	-	1	2	CAPN6	110381127	0.848000	0.29623	0.999000	0.59377	0.220000	0.24768	1.092000	0.30927	0.623000	0.30267	-1.102000	0.02115	CTG		0.393	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			C	110494471	G	C	110494471	3	2	230	1	0	0	0	0	1	0	0	0	2630	991	35	5	1016	5	CAPN6	23	110494471	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	39896229	110494471	44776089	114	16243											
GRIA3	2892	broad.mit.edu	37	chrX	122538688	122538688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatacaaattgtccatcGttggtgacgggaaatatggt	13	12	10	6	2	1	1	1	1	0	0	3	2	2	2	1	3	1	1	1	3	5	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:122538688G>A	ENST00000371251.1	+	10	1475	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	GRIA3_ENST00000541091.1_Missense_Mutation_p.V459I|GRIA3_ENST00000264357.5_Missense_Mutation_p.V475I|GRIA3_ENST00000371256.5_Missense_Mutation_p.V475I|GRIA3_ENST00000542149.1_Missense_Mutation_p.V475I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	475					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATTGTCCATCGTTGGTGACGG	0.418																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1423-1425)Gtt>Att		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						210	179	189					X																	122538688		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122538688G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1423G>A	X.37:g.122538688G>A	ENSP00000360297:p.Val475Ile					GRIA3_uc004etr.4_Missense_Mutation_p.V475I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V459I	p.V475I	NM_007325	NP_015564	P42263	GRIA3_HUMAN			9	1715	+			475					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1423G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211877	0.79240	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.4	5.4	0.78164	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	H	0.94542	3.55	0.80722	D	1	D;D;D	0.64830	0.987;0.994;0.992	P;D;D	0.71184	0.779;0.972;0.952	D	0.94467	0.7681	10	0.87932	D	0	.	17.2878	0.87146	0.0:0.0:1.0:0.0	.	459;475;475	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	475;475;475;475;459	ENSP00000264357:V475I;ENSP00000446146:V475I;ENSP00000360302:V475I;ENSP00000360297:V475I;ENSP00000446440:V459I	ENSP00000264357:V475I	V	+	1	0	GRIA3	122366369	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.813000	0.99286	2.381000	0.81170	0.506000	0.49869	GTT		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		A	122538688	G	A	122538688	3	1	230	1	0	0	0	0	1	0	0	0	6769	1145	40	1	1461	1	GRIA3	23	122538688	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	12044217	122538688	32731872	115	16244											
GPR112	139378	broad.mit.edu	37	chrX	135496349	135496349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccggtgtcagataaaggttgGatataaacaggagggactaa	15	8	13	5	1	1	1	1	0	0	1	1	4	1	4	1	5	1	1	1	5	6	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:135496349G>C	ENST00000394143.1	+	25	9359	c.9068G>C	c.(9067-9069)gGa>gCa	p.G3023A	GPR112_ENST00000412101.1_Missense_Mutation_p.G2818A|GPR112_ENST00000287534.4_Missense_Mutation_p.G2742A|GPR112_ENST00000394141.1_Missense_Mutation_p.G2818A|GPR112_ENST00000370652.1_Missense_Mutation_p.G3023A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3023					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATAAAGGTTGGATATAAACAG	0.363																																						uc004ezu.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(9067-9069)gGa>gCa		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							105	106	106					X																	135496349		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496349G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9068G>C	X.37:g.135496349G>C	ENSP00000377699:p.Gly3023Ala					GPR112_uc010nsb.1_Missense_Mutation_p.G2818A	p.G3023A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			24	9359	+	Acute lymphoblastic leukemia(192;0.000127)		3023					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.9068G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277434	0.23307	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27890	1.68;1.68;1.64;1.88;1.64	5.15	3.29	0.37713	.	.	.	.	.	T	0.25975	0.0633	L	0.36672	1.1	0.09310	N	1	P;P	0.47106	0.89;0.824	P;B	0.45881	0.496;0.3	T	0.06481	-1.0824	9	0.32370	T	0.25	.	5.932	0.19144	0.1068:0.0:0.6999:0.1932	.	2818;3023	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	A	3023;3023;2818;2742;2818	ENSP00000377699:G3023A;ENSP00000359686:G3023A;ENSP00000416526:G2818A;ENSP00000287534:G2742A;ENSP00000377697:G2818A	ENSP00000287534:G2742A	G	+	2	0	GPR112	135324015	0.350000	0.24878	0.014000	0.15608	0.011000	0.07611	0.673000	0.25203	1.016000	0.39470	0.506000	0.49869	GGA		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135496349	G	C	135496349	3	2	230	1	0	0	0	0	1	0	0	0	6629	1174	41	5	9154	5	GPR112	23	135496349	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	12957661	135496349	19774211	116	16245											
PLXNA3	55558	broad.mit.edu	37	chrX	153694760	153694760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccagccgtggcccggcGtccgggggcacacggcttac	5	5	15	16	5	0	0	0	0	0	0	2	0	2	0	4	5	2	2	4	5	1	1	rs371349360		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:153694760G>A	ENST00000369682.3	+	16	3016	c.2841G>A	c.(2839-2841)gcG>gcA	p.A947A		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	947	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGCCCGGCGTCCGGGGGCA	0.662																																						uc004flm.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2839-2841)gcG>gcA		Homo sapiens plexin A3 (PLXNA3), mRNA.				0,3834		0,0,0,1632,570	65	77	73		2841	-10	0	X		73	1,6727		0,0,1,2428,1871	no	coding-synonymous	PLXNA3	NM_017514.3		0,0,1,4060,2441	AA,AG,A,GG,G		0.0149,0.0,0.0095		947/1872	153694760	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694760G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2841G>A	X.37:g.153694760G>A							p.A947A	NM_017514	NP_059984	P51805	PLXA3_HUMAN			15	3014	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		947			IPT/TIG 2.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2841G>A	CCDS14752.1																																																																																				0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153694760	G	A	153694760	2	1	230	1	0	0	0	0	0	0	0	1	12121	1132	40	1		1	PLXNA3	23	153694760	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	18198411	153694760	1575800	117	16246											
FAF1	11124	broad.mit.edu	37	chr1	51001131	51001131	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctactgttgtgttcccTaaaaacatatagagattgcc	12	14	6	9	0	2	1	1	0	1	1	3	2	3	1	2	0	3	2	2	0	6	7			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:51001131T>C	ENST00000396153.2	-	15	1857		c.e15-2		FAF1_ENST00000545823.1_Splice_Site|FAF1_ENST00000371778.4_Splice_Site	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1						apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTGTTCCCTAAAAACATAT	0.323																																						uc001cse.1																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.e15-1		Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.							116	111	112					1																	51001131		2203	4300	6503	SO:0001630	splice_region_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51001131T>C	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1406-2A>G	1.37:g.51001131T>C						FAF1_uc009vyw.1_Splice_Site|FAF1_uc010onc.1_Splice_Site_p.G227_splice	p.G469_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	15	1859	-			469					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Splice_Site	SNP	ENST00000396153.2	37	c.1406_splice	CCDS554.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.217086	0.58560	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.158	0.72759	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAF1	50773719	1.000000	0.71417	0.994000	0.49952	0.556000	0.35491	7.671000	0.83941	1.979000	0.57680	0.482000	0.46254	.		0.323	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051	Intron	C	51001131	T	C	51001131	5	2	231	1	0	0	0	0	0	0	1	0	5369	1536	53	4	568	4	FAF1	1	51001131	Splice_Site	SNP	T	TCGA-32-2615-01A-01D-1495-08		51001131	198249490	1	16247											
C1orf161	126868	broad.mit.edu	37	chr1	116666896	116666896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgagacagatgtgaacatCgacggagacattgtgcctgc	12	8	12	9	2	0	4	0	2	0	3	1	7	0	4	1	1	3	0	1	1	1	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:116666896C>T	ENST00000369500.3	+	4	664	c.399C>T	c.(397-399)atC>atT	p.I133I	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	133										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						ATGTGAACATCGACGGAGACA	0.557																																						uc001egc.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(397-399)atC>atT		Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.							121	110	114					1																	116666896		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116666896C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.399C>T	1.37:g.116666896C>T							p.I133I	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN			3	664	+			133					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.399C>T	CCDS886.1																																																																																				0.557	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		T	116666896	C	T	116666896	2	4	231	1	0	0	0	0	0	0	0	1	2009	874	31	2		2	C1orf161	1	116666896	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	65665765	116666896	132583725	2	16248											
ASTN1	460	broad.mit.edu	37	chr1	176993825	176993825	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagctggtgatgctgatCagggtcaaggtggtcttatt	9	12	13	7	0	3	2	2	2	1	0	3	2	3	2	0	4	2	2	0	4	2	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:176993825C>A	ENST00000367654.3	-	6	1375	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	ASTN1_ENST00000367657.3_Silent_p.L388L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L388L|ASTN1_ENST00000361833.2_Silent_p.L388L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	388					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGCTGATCAGGGTCAAGG	0.512																																						uc001glc.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1162-1164)ctG>ctT		Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.							159	125	137					1																	176993825		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993825C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1164G>T	1.37:g.176993825C>A						ASTN1_uc001glb.1_Silent_p.L388L|ASTN1_uc001gld.1_Silent_p.L388L|ASTN1_uc009wwx.1_Silent_p.L388L|ASTN1_uc001gle.4_Non-coding_Transcript	p.L388L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			5	1376	-			388					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1164G>T																																																																																					0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		A	176993825	C	A	176993825	2	1	231	1	0	0	0	0	0	0	0	1	1064	813	29	5		5	ASTN1	1	176993825	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	60326929	176993825	72256796	3	16249											
PROX1	5629	broad.mit.edu	37	chr1	214209144	214209144	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccctgagattttcaaatcCccgaactgcctacaagagct	11	10	7	13	1	1	2	1	1	0	2	3	4	3	2	4	0	4	1	4	0	4	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:214209144C>G	ENST00000366958.4	+	5	2789	c.2181C>G	c.(2179-2181)tcC>tcG	p.S727S	PROX1_ENST00000261454.4_Silent_p.S727S|PROX1_ENST00000435016.1_Silent_p.S727S|PROX1_ENST00000498508.2_Silent_p.S727S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	727	Essential for nuclear localization, interaction with RORG, repression of RORG transcriptional activator activity. {ECO:0000250|UniProtKB:P48437}.|Prospero-like.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTCAAATCCCCGAACTGCC	0.423																																						uc001hkh.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(2179-2181)tcC>tcG		Homo sapiens prospero homeobox 1 (PROX1), mRNA.							81	73	76					1																	214209144		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214209144C>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.2181C>G	1.37:g.214209144C>G							p.S727S	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	4	2453	+			727			Prospero-like.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.2181C>G	CCDS31021.1																																																																																				0.423	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		G	214209144	C	G	214209144	2	3	231	1	0	0	0	0	0	0	0	1	12560	610	22	5		5	PROX1	1	214209144	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	37215319	214209144	35041477	4	16250											
TPO	7173	broad.mit.edu	37	chr2	1480946	1480946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccggggaccaaggcgCgctctttgggaacctgtcca	7	6	14	14	4	1	0	0	0	1	0	2	2	2	2	4	5	1	2	4	5	2	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:1480946C>T	ENST00000345913.4	+	8	999	c.908C>T	c.(907-909)gCg>gTg	p.A303V	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A303V|TPO_ENST00000382201.3_Missense_Mutation_p.A303V|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A303V|TPO_ENST00000329066.4_Missense_Mutation_p.A303V|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	303					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCAAGGCGCGCTCTTTGGG	0.706																																						uc002qwr.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(907-909)gCg>gTg		Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						15	16	16					2																	1480946		2199	4293	6492	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480946C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.908C>T	2.37:g.1480946C>T	ENSP00000318820:p.Ala303Val					TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.A303V|TPO_uc002qwx.3_Missense_Mutation_p.A303V|TPO_uc002qwu.3_Missense_Mutation_p.A303V|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.A303V	p.A303V	NM_001206744	NP_001193673	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	994	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	303					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.908C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	1.297	-0.605978	0.03717	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.66815	-0.19;-0.21;-0.17;-0.21;-0.13;-0.23	4.99	4.06	0.47325	.	0.762550	0.12718	N	0.444971	T	0.45677	0.1354	L	0.31752	0.955	0.09310	N	1	B;B;B	0.20550	0.018;0.046;0.032	B;B;B	0.19666	0.015;0.015;0.026	T	0.45234	-0.9275	10	0.02654	T	1	-22.1178	5.1674	0.15092	0.0:0.5797:0.2151:0.2051	.	303;303;303	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	V	303;303;303;303;303;232	ENSP00000337263:A303V;ENSP00000318820:A303V;ENSP00000263886:A303V;ENSP00000329869:A303V;ENSP00000371636:A303V;ENSP00000405788:A232V	ENSP00000329869:A303V	A	+	2	0	TPO	1459953	0.000000	0.05858	0.022000	0.16811	0.009000	0.06853	0.281000	0.18810	2.315000	0.78130	0.460000	0.39030	GCG		0.706	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1480946	C	T	1480946	3	4	231	1	0	0	0	0	1	0	0	0	16407	768	27	1	934	1	TPO	2	1480946	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		1480946	241718427	5	16251											
APOB	338	broad.mit.edu	37	chr2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaggtcagccagagttcGtccagtaagctccacgccaa	11	8	10	12	2	1	1	1	0	0	1	4	1	3	1	4	1	2	4	4	1	3	3	rs147863759		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:21233706G>A	ENST00000233242.1	-	26	6161	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2012					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGAGTTCGTCCAGTAAGC	0.428																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CM962634	APOB	M	rs147863759	c.(6034-6036)Cga>Tga		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	178	162	168		6034	1.3	0.1	2	dbSNP_134	168	0,8600		0,0,4300	no	stop-gained	APOB	NM_000384.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2012/4564	21233706	1,13005	2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233706G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6034C>T	2.37:g.21233706G>A	ENSP00000233242:p.Arg2012*						p.R2012*	NM_000384	NP_000375	P04114	APOB_HUMAN			25	6162	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2012					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.6034C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	42	9.516436	0.99193	2.27E-4	0.0	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.46	1.32	0.21799	.	0.834050	0.10100	N	0.716077	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2696	0.49131	0.0:0.3156:0.517:0.1674	.	.	.	.	X	2012	.	ENSP00000233242:R2012X	R	-	1	2	APOB	21087211	0.002000	0.14202	0.114000	0.21550	0.189000	0.23516	0.733000	0.26087	0.621000	0.30232	0.555000	0.69702	CGA		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21233706	G	A	21233706	4	1	231	1	0	0	0	0	0	1	0	0	785	1153	40	1	7673	1	APOB	2	21233706	Nonsense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	19752760	21233706	221965667	6	16252											
THSD7B	80731	broad.mit.edu	37	chr2	137988734	137988734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggtcatcctgttcccAgtcctgttcaaataaaaact	11	12	8	10	0	2	0	2	0	0	0	5	1	5	1	3	2	1	2	3	2	4	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:137988734A>C	ENST00000409968.1	+	8	2022	c.1844A>C	c.(1843-1845)cAg>cCg	p.Q615P	THSD7B_ENST00000413152.2_Missense_Mutation_p.Q584P|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q615P|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	615	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTGTTCCCAGTCCTGTTCA	0.507																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1750-1752)cAg>cCg		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							62	63	63					2																	137988734		1948	4143	6091	SO:0001583	missense	80731							g.chr2:137988734A>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1844A>C	2.37:g.137988734A>C	ENSP00000387145:p.Gln615Pro					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.Q474P	p.Q584P	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1751	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1751A>C		.	.	.	.	.	.	.	.	.	.	A	24.7	4.561727	0.86335	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.52983	0.64;0.64;0.64	5.89	5.89	0.94794	.	0.095332	0.64402	D	0.000001	T	0.57007	0.2024	L	0.57536	1.79	0.80722	D	1	D;B	0.56746	0.977;0.242	P;B	0.53313	0.723;0.209	T	0.53549	-0.8423	10	0.30078	T	0.28	.	16.3109	0.82869	1.0:0.0:0.0:0.0	.	615;584	Q9C0I4;C9JKN6	THS7B_HUMAN;.	P	615;615;584	ENSP00000387145:Q615P;ENSP00000272643:Q615P;ENSP00000413841:Q584P	ENSP00000272643:Q615P	Q	+	2	0	THSD7B	137705204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.257000	0.74773	0.460000	0.39030	CAG		0.507	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		C	137988734	A	C	137988734	3	2	231	1	0	0	0	0	1	0	0	0	15877	188	7	5	1777	5	THSD7B	2	137988734	Missense_Mutation	SNP	A	TCGA-32-2615-01A-01D-1495-08	116755028	137988734	105210639	7	16253											
ITIH3	3699	broad.mit.edu	37	chr3	52828907	52828907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagaagcccctttcggctgCttggggtgagtctgccccct	4	10	13	14	2	1	2	0	1	1	1	2	3	1	2	4	3	3	2	4	3	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:52828907C>T	ENST00000449956.2	+	1	94	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	ITIH3_ENST00000416872.2_Missense_Mutation_p.L30F	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	30	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTTCGGCTGCTTGGGGTGAG	0.587																																						uc003dfv.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(88-90)Ctt>Ttt		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.							83	89	87					3																	52828907		2005	4184	6189	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52828907C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.88C>T	3.37:g.52828907C>T	ENSP00000415769:p.Leu30Phe					ITIH3_uc011bek.1_Missense_Mutation_p.L30F	p.L30F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	0	124	+			30			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.88C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	4.996	0.184924	0.09495	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.02812	4.15;4.81	4.89	3.09	0.35607	Vault protein inter-alpha-trypsin (1);Vault protein inter-alpha-trypsin, metazoa (1);	0.664814	0.14084	N	0.342497	T	0.03136	0.0092	L	0.36672	1.1	0.09310	N	1	P;B	0.36065	0.535;0.359	B;B	0.40506	0.331;0.107	T	0.45145	-0.9281	10	0.17832	T	0.49	-11.5716	6.7935	0.23713	0.0:0.727:0.1779:0.0951	.	30;30	E7ET33;Q06033	.;ITIH3_HUMAN	F	30;30;25;30;30	ENSP00000413922:L30F;ENSP00000415769:L30F	ENSP00000273291:L25F	L	+	1	0	ITIH3	52803947	0.009000	0.17119	0.019000	0.16419	0.107000	0.19398	0.908000	0.28545	0.768000	0.33290	0.591000	0.81541	CTT		0.587	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		T	52828907	C	T	52828907	3	4	231	1	0	0	0	0	1	0	0	0	7905	797	28	3	90	3	ITIH3	3	52828907	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		52828907	145193523	8	16254											
DPPA4	55211	broad.mit.edu	37	chr3	109046840	109046840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttttcctgatattctattCccattggaggctttttatta	7	21	5	8	0	1	1	0	1	1	0	3	2	3	2	2	2	0	1	2	2	4	11			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:109046840C>T	ENST00000335658.6	-	7	964	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	304					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ATATTCTATTCCCATTGGAGG	0.373																																						uc003dxq.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(910-912)Gaa>Aaa		Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.							205	216	212					3																	109046840		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109046840C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.910G>A	3.37:g.109046840C>T	ENSP00000335306:p.Glu304Lys					DPPA4_uc011bho.2_3'UTR	p.E304K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			6	965	-			304					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.910G>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458739	0.43634	.	.	ENSG00000121570	ENST00000335658	T	0.25250	1.81	3.62	2.74	0.32292	.	2.157960	0.03146	N	0.167321	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.19321	-1.0309	10	0.62326	D	0.03	.	7.2586	0.26191	0.0:0.8782:0.0:0.1218	.	304	Q7L190	DPPA4_HUMAN	K	304	ENSP00000335306:E304K	ENSP00000335306:E304K	E	-	1	0	DPPA4	110529530	0.137000	0.22531	0.007000	0.13788	0.815000	0.46073	0.718000	0.25866	1.087000	0.41251	0.467000	0.42956	GAA		0.373	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		T	109046840	C	T	109046840	3	4	231	1	0	0	0	0	1	0	0	0	4736	864	30	3	8	3	DPPA4	3	109046840	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	56217933	109046840	88975590	9	16255											
BOD1L	259282	broad.mit.edu	37	chr4	13605551	13605551	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaatggtaacttggcTctatgactagaatccttctg	9	16	8	8	0	2	2	0	1	2	1	3	2	3	2	1	2	2	3	1	2	5	7			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:13605551T>C	ENST00000040738.5	-	10	3108	c.2973A>G	c.(2971-2973)agA>agG	p.R991R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	991	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GTAACTTGGCTCTATGACTAG	0.403																																						uc003gmz.1																			0											c.(2971-2973)agA>agG		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							202	215	211					4																	13605551		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13605551T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2973A>G	4.37:g.13605551T>C						BOD1L1_uc010idr.1_Silent_p.R328R	p.R991R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			9	3090	-			991			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2973A>G	CCDS3411.2																																																																																				0.403	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13605551	T	C	13605551	2	2	231	1	0	0	0	0	0	0	0	1	1483	1548	54	4		4	BOD1L	4	13605551	Silent	SNP	T	TCGA-32-2615-01A-01D-1495-08		13605551	177548725	10	16256											
NUP54	53371	broad.mit.edu	37	chr4	77069476	77069476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccgcgggggccgcggTggctgcagcggtaccggagg	4	4	19	14	6	1	0	1	0	0	0	1	1	1	1	3	7	3	3	3	7	1	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:77069476T>G	ENST00000264883.3	-	1	192	c.52A>C	c.(52-54)Acc>Ccc	p.T18P	NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000514987.1_Missense_Mutation_p.T18P	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	18	9 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GGGGCCGCGGTGGCTGCAGCG	0.667																																						uc003hjs.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(52-54)Acc>Ccc		Homo sapiens nucleoporin 54kDa (NUP54), mRNA.							15	20	18					4																	77069476		2188	4292	6480	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77069476T>G	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.52A>C	4.37:g.77069476T>G	ENSP00000264883:p.Thr18Pro					NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.T18P|NUP54_uc003hjt.3_5'UTR	p.T18P	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			0	180	-			18			9 X 2 AA repeats of F-G.|Gly-rich.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.52A>C	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933611	0.52866	.	.	ENSG00000138750	ENST00000264883;ENST00000514987;ENST00000514901	.	.	.	5.09	-4.14	0.03892	.	0.300619	0.34959	N	0.003557	T	0.36082	0.0954	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.01390	-1.1367	9	0.54805	T	0.06	-0.6988	3.6412	0.08168	0.1036:0.1543:0.4663:0.2758	.	18;18	B4DT35;Q7Z3B4	.;NUP54_HUMAN	P	18	.	ENSP00000264883:T18P	T	-	1	0	NUP54	77288500	0.979000	0.34478	0.968000	0.41197	0.945000	0.59286	-0.110000	0.10824	-0.625000	0.05604	-0.644000	0.03951	ACC		0.667	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			G	77069476	T	G	77069476	3	3	231	1	0	0	0	0	1	0	0	0	10767	1696	59	5	1519	5	NUP54	4	77069476	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	63463925	77069476	114084800	11	16257											
PET112L	5188	broad.mit.edu	37	chr4	152680061	152680061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccaaacctaccacagcagCccatttgtgttcactaagaa	13	10	5	13	0	1	1	1	0	0	1	2	1	2	1	4	0	4	2	4	0	4	5			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:152680061C>T	ENST00000515812.1	-	2	206	c.190G>A	c.(190-192)Gct>Act	p.A64T	PET112_ENST00000508611.1_Missense_Mutation_p.A64T|PET112_ENST00000263985.6_Missense_Mutation_p.A64T|PET112_ENST00000512306.1_Missense_Mutation_p.A64T																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						ACCACAGCAGCCCATTTGTGT	0.363																																						uc003iml.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(190-192)Gct>Act		Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						114	116	115					4																	152680061		2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152680061C>T																												ENST00000515812.1:c.190G>A	4.37:g.152680061C>T	ENSP00000426859:p.Ala64Thr					PET112_uc003imm.4_Missense_Mutation_p.A64T	p.A64T	NM_004564	NP_004555	O75879	GATB_HUMAN			1	231	-			64						Missense_Mutation	SNP	ENST00000515812.1	37	c.190G>A		.	.	.	.	.	.	.	.	.	.	C	18.41	3.618796	0.66787	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.44482	0.95;0.95;0.94;0.92	6.03	4.32	0.51571	.	0.359658	0.27159	N	0.020658	T	0.26376	0.0644	N	0.11201	0.11	0.30124	N	0.805451	B;B	0.11235	0.004;0.004	B;B	0.15052	0.012;0.007	T	0.19614	-1.0300	10	0.87932	D	0	-13.6482	12.7112	0.57089	0.0:0.8675:0.0:0.1325	.	64;64	D6RDU9;O75879	.;GATB_HUMAN	T	64	ENSP00000263985:A64T;ENSP00000426859:A64T;ENSP00000420831:A64T;ENSP00000421105:A64T	ENSP00000263985:A64T	A	-	1	0	PET112	152899511	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.932000	0.40143	0.884000	0.36064	0.557000	0.71058	GCT		0.363	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			T	152680061	C	T	152680061	3	4	231	1	0	0	0	0	1	0	0	0	11734	739	26	3	1531	3	PET112L	4	152680061	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	75610585	152680061	38474215	12	16258											
EGR1	1958	broad.mit.edu	37	chr5	137803130	137803130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaccggcccagcaagaCgcccccccacgaacgccctt	9	2	7	23	4	0	1	0	0	0	1	0	2	0	1	8	1	3	1	8	1	3	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:137803130C>T	ENST00000239938.4	+	2	1264	c.992C>T	c.(991-993)aCg>aTg	p.T331M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	331					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCAGCAAGACGCCCCCCCAC	0.652																																						uc003ldb.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-993)aCg>aTg		Homo sapiens early growth response 1 (EGR1), mRNA.							88	97	94					5																	137803130		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803130C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.992C>T	5.37:g.137803130C>T	ENSP00000239938:p.Thr331Met						p.T331M	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	1262	+			331						Missense_Mutation	SNP	ENST00000239938.4	37	c.992C>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129594	0.56721	.	.	ENSG00000120738	ENST00000239938	T	0.17054	2.3	4.47	4.47	0.54385	.	0.157375	0.56097	D	0.000031	T	0.49064	0.1535	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60530	-0.7245	10	0.87932	D	0	-11.8128	16.309	0.82862	0.0:1.0:0.0:0.0	.	331	P18146	EGR1_HUMAN	M	331	ENSP00000239938:T331M	ENSP00000239938:T331M	T	+	2	0	EGR1	137831029	1.000000	0.71417	0.986000	0.45419	0.958000	0.62258	7.651000	0.83577	2.319000	0.78375	0.563000	0.77884	ACG		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		T	137803130	C	T	137803130	3	4	231	1	0	0	0	0	1	0	0	0	4971	536	19	1	998	1	EGR1	5	137803130	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		137803130	43112130	13	16259											
PCDHA3	56145	broad.mit.edu	37	chr5	140181750	140181750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccaggtagaagccaCggataaaggaaatcccccaa	17	5	9	10	1	0	2	0	1	0	1	2	4	2	4	4	3	1	1	4	3	7	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:140181750C>T	ENST00000522353.2	+	1	968	c.968C>T	c.(967-969)aCg>aTg	p.T323M	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T323M|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAAGCCACGGATAAAGGA	0.378																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(967-969)aCg>aTg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							157	157	157					5																	140181750		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181750C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.968C>T	5.37:g.140181750C>T	ENSP00000429808:p.Thr323Met					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.T323M	p.T323M	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	968	+			338			Cadherin 3.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.968C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	9.213	1.031538	0.19590	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.54479	0.57;0.57	4.79	-1.56	0.08532	Cadherin (4);Cadherin-like (1);	0.955501	0.08504	U	0.936035	T	0.57519	0.2059	M	0.77486	2.375	0.09310	N	1	P;P	0.48016	0.904;0.869	B;P	0.49301	0.335;0.606	T	0.51957	-0.8639	10	0.45353	T	0.12	.	6.2541	0.20864	0.0:0.3278:0.2404:0.4318	.	323;323	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	323	ENSP00000429808:T323M;ENSP00000434086:T323M	ENSP00000429808:T323M	T	+	2	0	PCDHA3	140161934	0.000000	0.05858	0.033000	0.17914	0.985000	0.73830	-5.144000	0.00147	-0.305000	0.08831	0.467000	0.42956	ACG		0.378	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140181750	C	T	140181750	3	4	231	1	0	0	0	0	1	0	0	0	11525	536	19	1	970	1	PCDHA3	5	140181750	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	2378620	140181750	40733510	14	16260											
ARAP3	64411	broad.mit.edu	37	chr5	141041300	141041300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcggcggttgacccgcgGcaggcagccaatcacatctt	7	8	13	13	4	2	1	1	1	1	0	2	1	2	1	2	4	2	3	2	4	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:141041300G>A	ENST00000239440.4	-	21	3135	c.3070C>T	c.(3070-3072)Ccg>Tcg	p.P1024S	ARAP3_ENST00000508305.1_Missense_Mutation_p.P855S|ARAP3_ENST00000513878.1_Missense_Mutation_p.P686S|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1024	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGACCCGCGGCAGGCAGCCA	0.572																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3070-3072)Ccg>Tcg		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							82	89	87					5																	141041300		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041300G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3070C>T	5.37:g.141041300G>A	ENSP00000239440:p.Pro1024Ser					ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.P686S|ARAP3_uc003lln.3_Missense_Mutation_p.P855S	p.P1024S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			20	3148	-			1024			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3070C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804480	0.90623	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.27557	1.66;1.66;1.66	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.92691	3.335	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.987;0.998;0.999	T	0.73827	-0.3860	10	0.59425	D	0.04	.	18.8077	0.92045	0.0:0.0:1.0:0.0	.	686;855;1024	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	855;1024;686	ENSP00000421826:P855S;ENSP00000239440:P1024S;ENSP00000421468:P686S	ENSP00000239440:P1024S	P	-	1	0	ARAP3	141021484	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	9.043000	0.93799	2.777000	0.95525	0.655000	0.94253	CCG		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141041300	G	A	141041300	3	1	231	1	0	0	0	0	1	0	0	0	840	1203	42	3	1616	3	ARAP3	5	141041300	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	859550	141041300	39873960	15	16261											
SH3RF2	153769	broad.mit.edu	37	chr5	145428731	145428731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggggaagtgccaggaCggctggctcaggggcgtctc	5	7	18	11	2	2	0	1	0	1	0	4	2	3	2	2	7	1	2	2	7	1	0	rs561869294		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:145428731C>T	ENST00000511217.1	+	6	1297	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	SH3RF2_ENST00000359120.4_Silent_p.D415D			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	415	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCCAGGACGGCTGGCTCA	0.597											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		17901	0		0	False		,,,				2504	0.001					uc003lnt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1243-1245)gaC>gaT		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							66	66	66					5																	145428731		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145428731C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1245C>T	5.37:g.145428731C>T			OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1694	SH3RF2_uc011dbl.1_Silent_p.D415D|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	p.D415D	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1483	+			415			SH3 3.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1245C>T	CCDS4280.1																																																																																				0.597	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		T	145428731	C	T	145428731	2	4	231	1	0	0	0	0	0	0	0	1	14259	535	19	1		1	SH3RF2	5	145428731	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	4387431	145428731	35486529	16	16262											
PRSS16	10279	broad.mit.edu	37	chr6	27216987	27216987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaatggcccagctccGcttcttgtccagccgccttg	5	10	10	16	2	1	0	0	0	1	0	3	1	3	1	6	2	2	2	6	2	1	3	rs145240806		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27216987G>A	ENST00000230582.3	+	4	461	c.446G>A	c.(445-447)cGc>cAc	p.R149H	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	149					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCAGCTCCGCTTCTTGTCC	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		18411	0		0	False		,,,				2504	0				NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(445-447)cGc>cAc		Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.		G	HIS/ARG	0,4406		0,0,2203	85	85	85		446	3.2	1	6	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS16	NM_005865.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	149/515	27216987	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27216987G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.446G>A	6.37:g.27216987G>A	ENSP00000230582:p.Arg149His					PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Missense_Mutation_p.R39H|PRSS16_uc010jqr.1_Missense_Mutation_p.R39H|PRSS16_uc003njd.3_5'Flank	p.R149H	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			3	461	+			149					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.446G>A	CCDS4623.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.07	3.019626	0.54576	0.0	1.16E-4	ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953	T	0.17691	2.26	4.04	3.15	0.36227	.	0.459428	0.21587	N	0.072144	T	0.06508	0.0167	L	0.53617	1.68	0.40525	D	0.980879	B;B;P	0.40431	0.068;0.031;0.717	B;B;B	0.31614	0.033;0.012;0.133	T	0.14811	-1.0459	10	0.45353	T	0.12	-20.5965	10.1014	0.42507	0.1023:0.0:0.8977:0.0	.	40;149;149	Q7Z5N6;C9JI59;Q9NQE7	.;.;TSSP_HUMAN	H	149	ENSP00000230582:R149H	ENSP00000230582:R149H	R	+	2	0	PRSS16	27324966	0.892000	0.30473	1.000000	0.80357	0.879000	0.50718	1.984000	0.40658	1.015000	0.39444	0.557000	0.71058	CGC		0.562	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			A	27216987	G	A	27216987	3	1	231	1	0	0	0	0	1	0	0	0	12616	1087	38	1	460	1	PRSS16	6	27216987	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		27216987	143898080	17	16263											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861564	27861564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccggggagctggcCaagcacgccgtgtccgaggg	5	5	17	14	4	0	0	0	0	0	0	1	2	1	1	4	4	4	3	4	4	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27861564C>T	ENST00000303806.4	+	1	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	108					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GGGAGCTGGCCAAGCACGCCG	0.637																																						uc003nkc.1																			0											c.(322-324)gcC>gcT		Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.							46	50	48					6																	27861564		2203	4299	6502	SO:0001819	synonymous_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861564C>T	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.324C>T	6.37:g.27861564C>T						HIST1H3J_uc003nka.3_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	p.A108A	NM_003527	NP_003518	P23527	H2B1O_HUMAN			0	362	+			108					Q3KPI7|Q8TCV6	Silent	SNP	ENST00000303806.4	37	c.324C>T	CCDS4640.1																																																																																				0.637	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		T	27861564	C	T	27861564	2	4	231	1	0	0	0	0	0	0	0	1	7154	581	21	3		3	HIST1H2BO	6	27861564	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	644577	27861564	143253503	18	16264											
OR2J3	442186	broad.mit.edu	37	chr6	29080293	29080293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgatcacaagctccatatTtgttctcatacctctcatcc	10	14	3	14	0	3	1	3	1	2	0	7	1	5	1	3	0	2	2	3	0	3	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:29080293T>C	ENST00000377169.1	+	1	626	c.626T>C	c.(625-627)tTt>tCt	p.F209S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F209C(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTCCATATTTGTTCTCATA	0.448																																						uc011dll.2																			1	Substitution - Missense(1)	p.F209C(2)|p.I208T(1)	lung(1)	endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(625-627)tTt>tCt		Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.							103	114	110					6																	29080293		1319	2590	3909	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080293T>C		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.626T>C	6.37:g.29080293T>C	ENSP00000366374:p.Phe209Ser						p.F209S	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			0	626	+			209					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.626T>C	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559105	0.27827	.	.	ENSG00000204701	ENST00000377169	T	0.00048	8.82	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.52266	1.64	0.09310	N	1	D	0.67145	0.996	D	0.68621	0.959	T	0.32587	-0.9901	9	0.87932	D	0	.	10.804	0.46507	0.0:0.0:0.0:1.0	.	209	O76001	OR2J3_HUMAN	S	209	ENSP00000366374:F209S	ENSP00000366374:F209S	F	+	2	0	OR2J3	29188272	0.000000	0.05858	0.560000	0.28344	0.500000	0.33767	0.205000	0.17356	1.268000	0.44264	0.358000	0.22013	TTT		0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			C	29080293	T	C	29080293	3	2	231	1	0	0	0	0	1	0	0	0	11004	1841	64	4	628	4	OR2J3	6	29080293	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	1218729	29080293	142034774	19	16265											
ZBTB12	221527	broad.mit.edu	37	chr6	31868436	31868436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggtgtgccacctccaggGccgactccaccttgacgatg	6	7	12	16	3	0	1	0	1	0	0	2	3	2	1	7	2	1	0	7	2	0	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:31868436G>A	ENST00000375527.2	-	2	822	c.647C>T	c.(646-648)gCc>gTc	p.A216V	EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CACCTCCAGGGCCGACTCCAC	0.627																																						uc003nyd.1																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(646-648)gCc>gTc		Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.							81	71	74					6																	31868436		2065	4091	6156	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868436G>A	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.647C>T	6.37:g.31868436G>A	ENSP00000364677:p.Ala216Val					EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.A216V|CFB_uc011dop.2_5'Flank	p.A216V	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			1	823	-			216					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.647C>T	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	G	2.527	-0.309487	0.05458	.	.	ENSG00000204366	ENST00000375527	T	0.13420	2.59	4.3	4.3	0.51218	.	0.636195	0.15036	U	0.284161	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.30914	0.3	B	0.23275	0.045	T	0.37934	-0.9684	10	0.30854	T	0.27	.	11.5987	0.50990	0.0:0.181:0.819:0.0	.	216	Q9Y330	ZBT12_HUMAN	V	216	ENSP00000364677:A216V	ENSP00000364677:A216V	A	-	2	0	ZBTB12	31976415	0.024000	0.19004	0.991000	0.47740	0.978000	0.69477	1.078000	0.30754	1.932000	0.55993	0.313000	0.20887	GCC		0.627	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		A	31868436	G	A	31868436	3	1	231	1	0	0	0	0	1	0	0	0	17522	1203	42	3	736	3	ZBTB12	6	31868436	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	2788143	31868436	139246631	20	16266											
ZNF318	24149	broad.mit.edu	37	chr6	43325085	43325085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttcctctcgctttcGtctggcaagatccagttctc	4	15	6	16	2	4	1	0	0	4	1	10	1	7	1	3	1	0	3	3	1	1	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:43325085G>A	ENST00000361428.2	-	3	1044	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R323*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	323					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCGCTTTCGTCTGGCAAGA	0.522																																						uc003oux.3																			0		p.R322R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(967-969)Cga>Tga		Homo sapiens zinc finger protein 318 (ZNF318), mRNA.							195	165	175					6																	43325085		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325085G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.967C>T	6.37:g.43325085G>A	ENSP00000354964:p.Arg323*					ZNF318_uc003ouw.3_Non-coding_Transcript	p.R323*	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		2	1045	-			323					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.967C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	36	5.779407	0.96929	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	1.12	0.20585	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3836	13.799	0.63188	0.0:0.0:0.2729:0.7271	.	.	.	.	X	323	.	ENSP00000323032:R323X	R	-	1	2	ZNF318	43433063	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.676000	0.25247	0.264000	0.21851	0.650000	0.86243	CGA		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43325085	G	A	43325085	4	1	231	1	0	0	0	0	0	1	0	0	17833	1153	40	1	5904	1	ZNF318	6	43325085	Nonsense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	11456649	43325085	127789982	21	16267											
IMPG1	3617	broad.mit.edu	37	chr6	76782168	76782169	+	Frame_Shift_Ins	INS	-	-	A																															ttgaacttggagaaaaatccINSaaaaaacaaaaatagctctt																										TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:76782168_76782169insA	ENST00000369950.3	-	1	226_227	c.37_38insT	c.(37-39)tggfs	p.W13fs	IMPG1_ENST00000369963.3_Frame_Shift_Ins_p.W13fs	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGAAAAATCCAAAAAACAAAA	0.287																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(37-39)tggfs		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.																																				SO:0001589	frameshift_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76782168_76782169insA	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.38dupT	6.37:g.76782174_76782174dupA	ENSP00000358966:p.Trp13fs						p.W13fs	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			0	167_168	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	13						Frame_Shift_Ins	INS	ENST00000369950.3	37	c.37_38insT	CCDS4985.1																																																																																				0.287	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76782169	-	A	76782168	7	5	231	1	0	1	1	0	0	0	0	0	7728	595	21	0	2423	0	IMPG1	6	76782168	Frame_Shift_Ins	INS	-	TCGA-32-2615-01A-01D-1495-08	33457083	76782168	94332899	22	16268											
TNPO3	23534	broad.mit.edu	37	chr7	128612562	128612562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggtggtccagggtagtaGaggcaatggcccactgtaag	9	7	15	10	1	0	1	0	0	0	1	1	1	1	1	3	5	0	4	3	5	4	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:128612562G>A	ENST00000265388.5	-	19	2491	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	TNPO3_ENST00000393245.1_Missense_Mutation_p.S817F|TNPO3_ENST00000471234.1_Missense_Mutation_p.S719F|TNPO3_ENST00000482320.1_Missense_Mutation_p.S717F|TNPO3_ENST00000471166.1_Missense_Mutation_p.S817F|RN7SL306P_ENST00000492941.2_RNA			Q9Y5L0	TNPO3_HUMAN	transportin 3	783					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAGGGTAGTAGAGGCAATGGC	0.478																																					Pancreas(147;583 2585 39696 52331)	uc010lly.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2449-2451)tCt>tTt		Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.							110	94	99					7																	128612562		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128612562G>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2348C>T	7.37:g.128612562G>A	ENSP00000265388:p.Ser783Phe					TNPO3_uc010llx.2_Missense_Mutation_p.S194F|TNPO3_uc003vol.2_Missense_Mutation_p.S783F|TNPO3_uc010llz.2_Missense_Mutation_p.S719F|TNPO3_uc003vom.2_Missense_Mutation_p.S717F	p.S817F	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			18	2853	-			783					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.2450C>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659951	0.67586	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.69306	-0.23;-0.23;-0.23;-0.39;-0.23	5.41	4.47	0.54385	Armadillo-type fold (1);	0.164261	0.52532	D	0.000069	T	0.49695	0.1572	N	0.08118	0	0.46631	D	0.999134	B;B;P;P	0.44195	0.031;0.246;0.828;0.736	B;B;B;B	0.43783	0.033;0.11;0.431;0.17	T	0.55095	-0.8194	10	0.42905	T	0.14	.	13.645	0.62277	0.0:0.1564:0.8436:0.0	.	719;817;783;783	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	F	817;783;717;719;817	ENSP00000376936:S817F;ENSP00000265388:S783F;ENSP00000420089:S717F;ENSP00000418646:S719F;ENSP00000418267:S817F	ENSP00000265388:S783F	S	-	2	0	TNPO3	128399798	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.734000	0.84928	2.686000	0.91538	0.655000	0.94253	TCT		0.478	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		A	128612562	G	A	128612562	3	1	231	1	0	0	0	0	1	0	0	0	16334	942	33	3	439	3	TNPO3	7	128612562	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		128612562	30526101	23	16269											
PARP12	64761	broad.mit.edu	37	chr7	139746776	139746776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaattgccatcgataCggcaaatggaaatgaactct	15	9	8	9	2	1	2	0	1	1	1	3	4	2	3	2	2	3	1	2	2	6	2	rs147556524		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:139746776C>T	ENST00000263549.3	-	5	1767	c.894G>A	c.(892-894)ccG>ccA	p.P298P		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	298	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.P298P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCATCGATACGGCAAATGGA	0.403																																						uc003vvl.1																			1	Substitution - coding silent(1)	p.P298P(2)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(892-894)ccG>ccA		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.		C		0,4406		0,0,2203	147	128	134		894	-11.1	0.2	7	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PARP12	NM_022750.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		298/702	139746776	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139746776C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.894G>A	7.37:g.139746776C>T						PARP12_uc010lnf.1_Non-coding_Transcript	p.P298P	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			4	1768	-	Melanoma(164;0.0142)		298			WWE 1.		Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.894G>A	CCDS5857.1																																																																																				0.403	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139746776	C	T	139746776	2	4	231	1	0	0	0	0	0	0	0	1	11457	523	19	1		1	PARP12	7	139746776	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	11134214	139746776	19391887	24	16270											
NOBOX	135935	broad.mit.edu	37	chr7	144097327	144097327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggggtcacccccaccGtctgggcaatctctcggcgt	4	8	14	15	3	3	0	1	0	2	0	5	0	3	0	3	5	0	2	3	5	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:144097327G>A	ENST00000467773.1	-	5	922	c.923C>T	c.(922-924)aCg>aTg	p.T308M	NOBOX_ENST00000483238.1_Missense_Mutation_p.T308M|NOBOX_ENST00000223140.5_Missense_Mutation_p.T223M	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	308					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACCCCCACCGTCTGGGCAAT	0.552																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(922-924)aCg>aTg		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							76	72	73					7																	144097327		1892	4110	6002	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097327G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.923C>T	7.37:g.144097327G>A	ENSP00000419457:p.Thr308Met						p.T308M	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			4	923	-	Melanoma(164;0.14)		308					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.923C>T		.	.	.	.	.	.	.	.	.	.	G	3.653	-0.071046	0.07228	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96168	-3.93;-3.93;-3.93	5.79	0.922	0.19408	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.854934	0.10629	N	0.652396	D	0.88276	0.6393	N	0.17901	0.54	0.09310	N	1	B	0.26708	0.157	B	0.21546	0.035	T	0.77487	-0.2569	10	0.33141	T	0.24	-7.562	4.4501	0.11616	0.3937:0.0:0.4614:0.1449	.	308	O60393	NOBOX_HUMAN	M	308;308;223;97	ENSP00000419565:T308M;ENSP00000419457:T308M;ENSP00000223140:T223M	ENSP00000223140:T223M	T	-	2	0	NOBOX	143728260	0.335000	0.24748	0.045000	0.18777	0.169000	0.22640	1.129000	0.31381	-0.106000	0.12110	-0.840000	0.03056	ACG		0.552	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		A	144097327	G	A	144097327	3	1	231	1	0	0	0	0	1	0	0	0	10512	1145	40	1	1080	1	NOBOX	7	144097327	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	4350551	144097327	15041336	25	16271											
ZNF282	8427	broad.mit.edu	37	chr7	148920939	148920940	+	Frame_Shift_Ins	INS	-	-	C																															ggtgaagaacccacccccggINSccccgccacagccccagccc																										TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:148920939_148920940insC	ENST00000262085.3	+	8	1321_1322	c.1216_1217insC	c.(1216-1218)gccfs	p.A406fs	ZNF282_ENST00000479907.1_Frame_Shift_Ins_p.A406fs	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	406					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		cccacccccggccccgccacag	0.703																																						uc003wfm.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1216-1218)gccfs		Homo sapiens zinc finger protein 282 (ZNF282), mRNA.																																				SO:0001589	frameshift_variant	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148920939_148920940insC	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1220dupC	7.37:g.148920943_148920943dupC	ENSP00000262085:p.Ala406fs					ZNF282_uc011kun.1_Frame_Shift_Ins_p.A406fs|ZNF282_uc003wfo.3_Intron	p.A406fs	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	7	1321_1322	+	Melanoma(164;0.15)		406					B4DRI5|O43691|Q6DKK0	Frame_Shift_Ins	INS	ENST00000262085.3	37	c.1216_1217insC	CCDS5895.1																																																																																				0.703	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		C	148920940	-	C	148920939	7	5	231	1	0	1	1	0	0	0	0	0	17816	1203	42	0	1246	0	ZNF282	7	148920939	Frame_Shift_Ins	INS	-	TCGA-32-2615-01A-01D-1495-08	4823612	148920939	10217724	26	16272											
XKR4	114786	broad.mit.edu	37	chr8	56270319	56270319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttttactggaaaatggtAtatgagtatgcggatgtgag	12	13	14	2	1	0	2	0	2	0	0	0	4	0	4	0	4	2	3	0	4	6	5			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:56270319A>G	ENST00000327381.6	+	2	988	c.888A>G	c.(886-888)gtA>gtG	p.V296V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	296						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAAATGGTATATGAGTATG	0.438																																						uc003xsf.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(886-888)gtA>gtG		Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.							184	167	172					8																	56270319		2203	4300	6503	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56270319A>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.888A>G	8.37:g.56270319A>G							p.V296V	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	920	+			296					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.888A>G	CCDS34893.1																																																																																				0.438	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		G	56270319	A	G	56270319	2	3	231	1	0	0	0	0	0	0	0	1	17430	436	16	4		4	XKR4	8	56270319	Silent	SNP	A	TCGA-32-2615-01A-01D-1495-08		56270319	90093703	27	16273											
CPSF1	29894	broad.mit.edu	37	chr8	145624369	145624369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaccgacaaagccccGttcttcccgtggccggagca	8	6	11	16	4	1	0	0	0	1	0	2	2	2	1	5	2	4	4	5	2	1	2	rs371053206		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:145624369G>A	ENST00000349769.3	-	16	1621	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	509					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACAAAGCCCCGTTCTTCCCGT	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1525-1527)aaC>aaT		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.		G		0,4404		0,0,2202	19	20	20		1527	-9.2	0.1	8		20	1,8597		0,1,4298	no	coding-synonymous	CPSF1	NM_013291.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		509/1444	145624369	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624369G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1527C>T	8.37:g.145624369G>A							p.N509N	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		15	1602	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		509					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1527C>T	CCDS34966.1																																																																																				0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145624369	G	A	145624369	2	1	231	1	0	0	0	0	0	0	0	1	3824	1136	40	1		1	CPSF1	8	145624369	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	89354050	145624369	739653	28	16274											
ASS1	445	broad.mit.edu	37	chr9	133342180	133342180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaatgacctgatggagtaCgcaaaggtatggccgagtct	11	8	13	9	3	1	2	0	2	1	0	1	4	1	3	2	3	1	4	2	3	4	2	rs377319610		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr9:133342180C>T	ENST00000372394.1	+	7	970	c.489C>T	c.(487-489)taC>taT	p.Y163Y	ASS1_ENST00000352480.5_Silent_p.Y163Y|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.Y163Y			P00966	ASSY_HUMAN	argininosuccinate synthase 1	163					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGATGGAGTACGCAAAGGTAT	0.612																																						uc010mza.3																			0		p.K239N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(715-717)taC>taT		Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	C	,	2,4404	4.2+/-10.8	0,2,2201	105	84	91		489,489	-3.8	0.1	9		91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASS1	NM_000050.4,NM_054012.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	163/413,163/413	133342180	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133342180C>T	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.489C>T	9.37:g.133342180C>T						ASS1_uc004bzm.3_Silent_p.Y163Y|ASS1_uc004bzn.3_Silent_p.Y163Y	p.Y239Y	NM_054012	NP_446464	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	6	1225	+			163					Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	c.717C>T	CCDS6933.1																																																																																				0.612	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		T	133342180	C	T	133342180	2	4	231	1	0	0	0	0	0	0	0	1	1061	547	19	1		1	ASS1	9	133342180	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08		133342180	7871251	29	16275											
AKR1C4	1109	broad.mit.edu	37	chr10	5238864	5238864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcgtgtagagctaaatGatggtcacttcatgcccgta	11	11	10	9	2	3	2	3	1	0	1	3	2	3	2	1	1	3	3	1	1	4	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:5238864G>A	ENST00000380448.1	+	3	287	c.34G>A	c.(34-36)Gat>Aat	p.D12N	AKR1C4_ENST00000263126.1_Missense_Mutation_p.D12N|AKR1CL1_ENST00000445191.1_Intron|U8_ENST00000516100.1_RNA			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	12					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AGAGCTAAATGATGGTCACTT	0.418																																						uc001ihw.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(34-36)Gat>Aat		Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	NADH(DB00157)						272	222	239					10																	5238864		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5238864G>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.34G>A	10.37:g.5238864G>A	ENSP00000369814:p.Asp12Asn						p.D12N	NM_001818	NP_001809	P17516	AK1C4_HUMAN			0	67	+			12					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.34G>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058404	0.36277	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.48836	0.8;0.8	2.92	2.92	0.33932	NADP-dependent oxidoreductase domain (2);	0.000000	0.64402	D	0.000019	T	0.40297	0.1111	L	0.35854	1.095	0.36894	D	0.890051	P	0.41008	0.735	P	0.44561	0.453	T	0.40232	-0.9574	10	0.21540	T	0.41	.	12.0413	0.53454	0.0:0.0:1.0:0.0	.	12	P17516	AK1C4_HUMAN	N	12	ENSP00000369814:D12N;ENSP00000263126:D12N	ENSP00000263126:D12N	D	+	1	0	AKR1C4	5228864	1.000000	0.71417	0.635000	0.29338	0.310000	0.27922	5.503000	0.66962	1.565000	0.49641	0.591000	0.81541	GAT		0.418	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		A	5238864	G	A	5238864	3	1	231	1	0	0	0	0	1	0	0	0	472	1290	45	3	36	3	AKR1C4	10	5238864	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		5238864	130295883	30	16276											
TAF3	83860	broad.mit.edu	37	chr10	8006394	8006394	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccaaaaactgtatccaaAgaaaagaaatcacctggacg	19	6	6	10	1	2	2	2	0	0	2	3	3	3	3	3	1	1	1	3	1	7	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:8006394A>G	ENST00000344293.5	+	3	1127	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	307					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGTATCCAAAGAAAAGAAAT	0.493																																						uc010qbd.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(919-921)aaA>aaG		Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.							55	54	55					10																	8006394		1871	4087	5958	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006394A>G	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.921A>G	10.37:g.8006394A>G							p.K307K	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			2	921	+			307					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.921A>G	CCDS41487.1																																																																																				0.493	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		G	8006394	A	G	8006394	2	3	231	1	0	0	0	0	0	0	0	1	15522	69	3	4		4	TAF3	10	8006394	Silent	SNP	A	TCGA-32-2615-01A-01D-1495-08	2767530	8006394	127528353	31	16277											
OPN4	94233	broad.mit.edu	37	chr10	88419055	88419055	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgccctggctcccaggCgcctacgtgcccgaggggtt	4	7	13	17	3	0	0	0	0	0	0	1	1	1	0	5	4	3	2	5	4	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:88419055C>T	ENST00000241891.5	+	5	797	c.630C>T	c.(628-630)agC>agT	p.S210S	OPN4_ENST00000372071.2_Splice_Site_p.S221S	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	210					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCTCCCAGGCGCCTACGTGC	0.622																																						uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.e6-1		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.							107	92	97					10																	88419055		2203	4300	6503	SO:0001630	splice_region_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419055C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.629-1C>T	10.37:g.88419055C>T						OPN4_uc001kdp.3_Splice_Site_p.S221_splice|OPN4_uc001kdq.3_Splice_Site_p.S210_splice|OPN4_uc009xsx.1_5'Flank	p.S221_splice	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN			6	889	+			210					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.662_splice	CCDS7376.1																																																																																				0.622	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282	Silent	T	88419055	C	T	88419055	5	4	231	1	0	0	0	0	0	0	1	0	10882	782	27	1	685	1	OPN4	10	88419055	Splice_Site	SNP	C	TCGA-32-2615-01A-01D-1495-08	80412661	88419055	47115692	32	16278											
LOC729020	729020	broad.mit.edu	37	chr10	105005758	105005758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagccagcggtatggCgtcgggctgcaagattggcc	6	8	17	10	3	0	1	0	0	0	1	1	2	0	2	2	5	3	3	2	5	2	3	rs532886573		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:105005758C>T	ENST00000441178.2	+	1	115	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_001143909.1	NP_001137381.1																					AGCGGTATGGCGTCGGGCTGC	0.522																																						uc009xxi.2																			0											c.(4-6)gCg>gTg		Homo sapiens rcRPE (LOC729020), mRNA.							57	51	53					10																	105005758		692	1591	2283	SO:0001583	missense	729020				carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity	g.chr10:105005758C>T																												ENST00000441178.2:c.5C>T	10.37:g.105005758C>T	ENSP00000476672:p.Ala2Val					BC040734_uc001kwr.3_Intron	p.A2V	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN			0	115	+			2						Missense_Mutation	SNP	ENST00000441178.2	37	c.5C>T																																																																																					0.522	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050120.2			T	105005758	C	T	105005758	3	4	231	1	0	0	0	0	1	0	0	0	8888	768	27	1	7	1	LOC729020	10	105005758	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	16586703	105005758	30528989	33	16279											
OR52M1	119772	broad.mit.edu	37	chr11	4566916	4566916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctgcctctgatgatcCgcctgcggctgcccctttat	4	12	9	16	2	2	2	0	2	2	0	3	3	3	2	6	1	3	1	6	1	1	2	rs201510674	byFrequency	TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:4566916C>T	ENST00000360213.1	+	1	496	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGATGATCCGCCTGCGGCT	0.522													C|||	9	0.00179712	0	0	5008	,	,		18785	0		0.001	False		,,,				2504	0.0082					uc010qyf.2																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(496-498)Cgc>Tgc		Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.							101	102	102					11																	4566916		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566916C>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.496C>T	11.37:g.4566916C>T	ENSP00000353343:p.Arg166Cys						p.R166C	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	496	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	166						Missense_Mutation	SNP	ENST00000360213.1	37	c.496C>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258228	0.59321	.	.	ENSG00000197790	ENST00000360213	T	0.00152	8.66	4.98	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.142760	0.32593	N	0.005884	T	0.00328	0.0010	M	0.79011	2.435	0.35917	D	0.831551	D	0.76494	0.999	D	0.63192	0.912	T	0.71978	-0.4429	10	0.87932	D	0	.	5.771	0.18253	0.0:0.6425:0.1629:0.1946	.	166	Q8NGK5	O52M1_HUMAN	C	166	ENSP00000353343:R166C	ENSP00000353343:R166C	R	+	1	0	OR52M1	4523492	0.000000	0.05858	0.950000	0.38849	0.952000	0.60782	-2.552000	0.00927	1.385000	0.46445	0.650000	0.86243	CGC		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		T	4566916	C	T	4566916	3	4	231	1	0	0	0	0	1	0	0	0	11126	652	23	2	498	2	OR52M1	11	4566916	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		4566916	130439600	34	16280											
MRVI1	10335	broad.mit.edu	37	chr11	10647541	10647541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcagtttctgcatcCgcacgggctgcacttgtatc	5	13	11	12	2	2	0	1	0	1	0	4	0	3	0	1	2	2	7	1	2	1	4	rs373767088		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:10647541C>G	ENST00000436272.1	-	8	1337	c.1259G>C	c.(1258-1260)cGg>cCg	p.R420P	MRVI1_ENST00000547195.1_Missense_Mutation_p.R356P|MRVI1_ENST00000527509.2_Missense_Mutation_p.R356P|MRVI1_ENST00000421747.1_Missense_Mutation_p.R438P|MRVI1_ENST00000424001.1_Missense_Mutation_p.R132P|MRVI1_ENST00000552103.1_Missense_Mutation_p.R356P|MRVI1_ENST00000531107.1_Missense_Mutation_p.R439P|MRVI1_ENST00000545852.1_Missense_Mutation_p.R132P|MRVI1_ENST00000534266.2_Missense_Mutation_p.R132P|MRVI1_ENST00000423302.2_Missense_Mutation_p.R447P|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.R132P			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	420					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTCTGCATCCGCACGGGCTG	0.597																																						uc010rcc.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1339-1341)cGg>cCg		Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.							12	13	12					11																	10647541		1923	4107	6030	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10647541C>G	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1259G>C	11.37:g.10647541C>G	ENSP00000412229:p.Arg420Pro					MRVI1_uc010rcb.1_Missense_Mutation_p.R439P|MRVI1_uc001miw.2_Missense_Mutation_p.R438P|MRVI1_uc001mix.3_Missense_Mutation_p.R132P|MRVI1_uc001miz.2_Missense_Mutation_p.R356P|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.R132P|MRVI1_uc010rce.1_Intron	p.R447P	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1726	-			420					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1340G>C		.	.	.	.	.	.	.	.	.	.	C	22.9	4.346580	0.82022	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T	0.26223	2.9;2.9;2.33;2.33;1.75;1.75;2.73;2.9;2.33	5.71	5.71	0.89125	.	0.210436	0.40302	N	0.001136	T	0.49864	0.1582	L	0.60455	1.87	0.46260	D	0.998959	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70016	0.967;0.952;0.921	T	0.42732	-0.9434	10	0.62326	D	0.03	-14.9475	19.8534	0.96748	0.0:1.0:0.0:0.0	.	420;439;438	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	P	438;421;420;356;356;132;132;447;439;356	ENSP00000414598:R438P;ENSP00000412229:R420P;ENSP00000448278:R356P;ENSP00000446764:R356P;ENSP00000441971:R132P;ENSP00000401205:R132P;ENSP00000412130:R447P;ENSP00000432436:R439P;ENSP00000432067:R356P	ENSP00000307885:R421P	R	-	2	0	MRVI1	10604117	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.374000	0.52402	2.711000	0.92665	0.563000	0.77884	CGG		0.597	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		G	10647541	C	G	10647541	3	3	231	1	0	0	0	0	1	0	0	0	9853	652	23	5	1450	5	MRVI1	11	10647541	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	6080625	10647541	124358975	35	16281											
HTR3A	3359	broad.mit.edu	37	chr11	113853896	113853896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatattcggcatcaaggCgaagttcagaactacaagcc	13	9	10	9	2	2	1	2	0	0	1	3	2	2	1	1	2	3	3	1	2	7	5	rs573001897		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:113853896C>T	ENST00000504030.2	+	5	874	c.429C>T	c.(427-429)ggC>ggT	p.G143G	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Silent_p.G128G|HTR3A_ENST00000506841.2_Silent_p.G143G|HTR3A_ENST00000355556.2_Silent_p.G149G|HTR3A_ENST00000375498.2_Silent_p.G149G			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	143					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GGCATCAAGGCGAAGTTCAGA	0.537													C|||	1	0.000199681	0	0	5008	,	,		19985	0.001		0	False		,,,				2504	0					uc010rxb.2																			0		p.K149R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(445-447)ggC>ggT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						183	162	169					11																	113853896		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853896C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.429C>T	11.37:g.113853896C>T						HTR3A_uc010rxa.2_Silent_p.G149G|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.G128G	p.G149G	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	4	680	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	143					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.447C>T																																																																																					0.537	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		T	113853896	C	T	113853896	2	4	231	1	0	0	0	0	0	0	0	1	7444	755	27	1		1	HTR3A	11	113853896	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	103206355	113853896	21152620	36	16282											
CPNE8	144402	broad.mit.edu	37	chr12	39155951	39155951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatgctctgactgagaTcttgaatgcttgccatactg	11	13	8	9	0	2	3	0	3	2	1	2	4	2	3	1	0	4	2	1	0	3	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39155951T>A	ENST00000331366.5	-	9	739	c.643A>T	c.(643-645)Atc>Ttc	p.I215F	CPNE8_ENST00000360449.3_Missense_Mutation_p.I203F	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	215	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGACTGAGATCTTGAATGCT	0.308																																						uc001rls.1																			0		p.K214N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(643-645)Atc>Ttc		Homo sapiens copine VIII (CPNE8), mRNA.							114	107	109					12																	39155951		2203	4299	6502	SO:0001583	missense	144402							g.chr12:39155951T>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.643A>T	12.37:g.39155951T>A	ENSP00000329748:p.Ile215Phe						p.I215F	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			8	727	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	215			C2 2.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.643A>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888766	0.52014	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.58060	0.36;0.36	4.05	2.9	0.33743	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.117906	0.56097	D	0.000026	T	0.43211	0.1237	L	0.33668	1.02	0.80722	D	1	B	0.22983	0.078	B	0.33799	0.17	T	0.34850	-0.9812	10	0.52906	T	0.07	-10.4735	8.9067	0.35528	0.0:0.094:0.0:0.906	.	215	Q86YQ8	CPNE8_HUMAN	F	215;203	ENSP00000329748:I215F;ENSP00000353633:I203F	ENSP00000329748:I215F	I	-	1	0	CPNE8	37442218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.683000	0.84093	0.696000	0.31696	-0.256000	0.11100	ATC		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		A	39155951	T	A	39155951	3	1	231	1	0	0	0	0	1	0	0	0	3818	1435	50	5	1099	5	CPNE8	12	39155951	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08		39155951	94695944	37	16283											
KIF21A	55605	broad.mit.edu	37	chr12	39726188	39726188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgaaagtttctctcgtCtttttgtgagttcctcccgt	4	21	7	9	2	2	2	0	2	2	0	6	2	4	2	2	0	0	2	2	0	1	6			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39726188C>A	ENST00000361418.5	-	21	2894	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	KIF21A_ENST00000361961.3_Missense_Mutation_p.R947I|KIF21A_ENST00000541463.2_Missense_Mutation_p.R924I|KIF21A_ENST00000395670.3_Missense_Mutation_p.R960I|KIF21A_ENST00000544797.2_Missense_Mutation_p.R947I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	960					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTCTCTCGTCTTTTTGTGAG	0.398																																						uc001rly.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2878-2880)aGa>aTa		Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.							197	185	190					12																	39726188		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726188C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2879G>T	12.37:g.39726188C>A	ENSP00000354878:p.Arg960Ile					KIF21A_uc001rlv.3_5'UTR|KIF21A_uc001rlw.3_Missense_Mutation_p.R277I|KIF21A_uc001rlx.3_Missense_Mutation_p.R947I|KIF21A_uc001rlz.3_Missense_Mutation_p.R924I|KIF21A_uc010skl.2_Missense_Mutation_p.R947I	p.R960I	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN			20	3299	-		Lung NSC(34;0.179)|all_lung(34;0.213)	960					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2879G>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699546|4.699546	0.88830|0.88830	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.71579	.|-0.57;-0.53;0.25;-0.58;-0.47;-0.53	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.104775	.|0.42172	.|D	.|0.000746	D|D	0.82486|0.82486	0.5047|0.5047	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P;D;B;B;D	.|0.69078	.|0.937;0.997;0.286;0.328;0.976	.|P;D;B;B;D	.|0.80764	.|0.735;0.994;0.15;0.085;0.918	T|T	0.82051|0.82051	-0.0649|-0.0649	5|10	.|0.49607	.|T	.|0.09	.|.	19.4615|19.4615	0.94920|0.94920	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|947;924;960;947;960	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.|.;.;KI21A_HUMAN;.;.	Y|I	308|947;960;960;14;8;947;960;924	.|ENSP00000354851:R947I;ENSP00000379029:R960I;ENSP00000448792:R8I;ENSP00000445606:R947I;ENSP00000354878:R960I;ENSP00000438075:R924I	.|ENSP00000344501:R960I	D|R	-|-	1|2	0|0	KIF21A|KIF21A	38012455|38012455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.917000|5.917000	0.69989|0.69989	2.576000|2.576000	0.86940|0.86940	0.557000|0.557000	0.71058|0.71058	GAC|AGA		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39726188	C	A	39726188	3	1	231	1	0	0	0	0	1	0	0	0	8288	913	32	5	2217	5	KIF21A	12	39726188	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	570237	39726188	94125707	38	16284											
GRIP1	23426	broad.mit.edu	37	chr12	66838466	66838466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcttctgttggaattcCattgatggccatcactctgt	6	16	9	10	0	4	1	1	1	3	0	5	2	5	2	2	2	0	2	2	2	1	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:66838466C>T	ENST00000398016.3	-	12	1497	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	GRIP1_ENST00000359742.4_Missense_Mutation_p.G529R|GRIP1_ENST00000286445.7_Missense_Mutation_p.G529R	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTTGGAATTCCATTGATGGCC	0.458																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1429-1431)Gga>Aga		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							136	132	133					12																	66838466		1964	4134	6098	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66838466C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1429G>A	12.37:g.66838466C>T	ENSP00000381098:p.Gly477Arg					GRIP1_uc010sta.1_Missense_Mutation_p.G421R|GRIP1_uc001stj.3_Missense_Mutation_p.G259R|GRIP1_uc001stm.3_Missense_Mutation_p.G477R|GRIP1_uc001stl.1_Missense_Mutation_p.G369R	p.G477R	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	11	1670	-			529			PDZ 4.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1429G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.902495|4.902495	0.92035|0.92035	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	5.57|5.57	5.57|5.57	0.84162|0.84162	PDZ/DHR/GLGF (4);|.	0.110664|.	0.64402|.	D|.	0.000010|.	D|D	0.88040|0.88040	0.6330|0.6330	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.71674|.	0.997;0.969;0.944;0.998|.	D;D;D;D|.	0.78314|.	0.991;0.989;0.918;0.988|.	D|D	0.91138|0.91138	0.4943|0.4943	9|5	.|.	.|.	.|.	-15.8353|-15.8353	19.6192|19.6192	0.95649|0.95649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	477;529;477;529|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	R|I	477;529;529;477;421;369|343	ENSP00000381098:G477R;ENSP00000352780:G529R;ENSP00000286445:G529R;ENSP00000446047:G477R;ENSP00000446024:G421R;ENSP00000446011:G369R|.	.|.	G|M	-|-	1|3	0|0	GRIP1|GRIP1	65124733|65124733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.484000|7.484000	0.81180|0.81180	2.637000|2.637000	0.89404|0.89404	0.539000|0.539000	0.68188|0.68188	GGA|ATG		0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66838466	C	T	66838466	3	4	231	1	0	0	0	0	1	0	0	0	6787	603	21	3	1853	3	GRIP1	12	66838466	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	27112278	66838466	67013429	39	16285											
OAS2	4939	broad.mit.edu	37	chr12	113435338	113435338	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtgccagaaaaaaaTcaaggatttaccctcgctgt	14	8	7	12	1	1	1	1	0	0	1	2	2	1	2	3	1	2	1	3	1	5	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:113435338T>A	ENST00000342315.4	+	4	855	c.641T>A	c.(640-642)aTc>aAc	p.I214N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.I214N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	214	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGAAAAAAATCAAGGATTTA	0.488																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(640-642)aTc>aAc		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.							88	77	81					12																	113435338		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113435338T>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.641T>A	12.37:g.113435338T>A	ENSP00000342278:p.Ile214Asn					OAS2_uc001tui.1_Missense_Mutation_p.I214N	p.I214N	NM_016817	NP_058197	P29728	OAS2_HUMAN			3	781	+			214			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.641T>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	T	7.023	0.559140	0.13436	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000552756	T;T;T	0.41065	1.01;1.01;1.01	4.06	-8.13	0.01073	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	16.749600	0.00166	N	0.000001	T	0.22589	0.0545	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09907	-1.0653	10	0.23302	T	0.38	-20.9936	8.5433	0.33406	0.2251:0.0:0.597:0.1779	.	214;214	P29728;P29728-2	OAS2_HUMAN;.	N	214;214;139	ENSP00000342278:I214N;ENSP00000376362:I214N;ENSP00000446977:I139N	ENSP00000342278:I214N	I	+	2	0	OAS2	111919721	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.548000	0.06048	-1.669000	0.01470	-1.952000	0.00485	ATC		0.488	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			A	113435338	T	A	113435338	3	1	231	1	0	0	0	0	1	0	0	0	10800	1435	50	5	726	5	OAS2	12	113435338	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	46596872	113435338	20416557	40	16286											
ULK1	8408	broad.mit.edu	37	chr12	132379629	132379629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcggccacggcgccttcgCggtggtcttcaagggccgcc	4	7	15	15	6	2	0	1	0	1	0	4	1	2	0	4	5	0	0	4	5	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:132379629C>T	ENST00000321867.4	+	1	434	c.83C>T	c.(82-84)gCg>gTg	p.A28V		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGCGCCTTCGCGGTGGTCTTC	0.751																																						uc001uje.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(82-84)gCg>gTg		Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.							9	7	8					12																	132379629		2096	4132	6228	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132379629C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.83C>T	12.37:g.132379629C>T	ENSP00000324560:p.Ala28Val						p.A28V	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	0	351	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		28			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.83C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	N	17.97	3.518865	0.64634	.	.	ENSG00000177169	ENST00000321867	T	0.27256	1.68	4.13	3.23	0.37069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.075709	0.51477	U	0.000082	T	0.55768	0.1941	M	0.92219	3.285	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	T	0.66488	-0.5911	10	0.87932	D	0	.	12.2938	0.54833	0.1709:0.829:0.0:0.0	.	28	O75385	ULK1_HUMAN	V	28	ENSP00000324560:A28V	ENSP00000324560:A28V	A	+	2	0	ULK1	130945582	0.998000	0.40836	0.993000	0.49108	0.726000	0.41606	4.012000	0.57131	0.851000	0.35264	0.154000	0.16183	GCG		0.751	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			T	132379629	C	T	132379629	3	4	231	1	0	0	0	0	1	0	0	0	16972	768	27	1	85	1	ULK1	12	132379629	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	18944291	132379629	1472266	41	16287											
KLHL1	57626	broad.mit.edu	37	chr13	70314591	70314591	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactggctacaaatgtccaTtgttgactctgtggatccca	10	13	8	10	0	1	1	0	1	1	0	3	2	3	2	2	2	2	2	2	2	3	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr13:70314591T>C	ENST00000377844.4	-	8	2496	c.1737A>G	c.(1735-1737)caA>caG	p.Q579Q	KLHL1_ENST00000545028.1_Silent_p.Q386Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	579					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAATGTCCATTGTTGACTCT	0.413																																						uc001vip.3																			0		p.Q579K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1735-1737)caA>caG		Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.							99	87	91					13																	70314591		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314591T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1737A>G	13.37:g.70314591T>C						KLHL1_uc010thm.2_Silent_p.Q518Q	p.Q579Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	7	2531	-		Breast(118;0.000162)	579					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.1737A>G	CCDS9445.1																																																																																				0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		C	70314591	T	C	70314591	2	2	231	1	0	0	0	0	0	0	0	1	8365	1490	52	4		4	KLHL1	13	70314591	Silent	SNP	T	TCGA-32-2615-01A-01D-1495-08		70314591	44855287	42	16288											
CLEC14A	161198	broad.mit.edu	37	chr14	38723832	38723832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagatcacagtccccgaCtttcaccccattgtttgtgc	7	11	7	16	2	2	1	2	0	0	1	3	2	3	1	5	0	1	2	5	0	0	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr14:38723832C>A	ENST00000342213.2	-	1	1742	c.1396G>T	c.(1396-1398)Gtc>Ttc	p.V466F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	466						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGTCCCCGACTTTCACCCCA	0.602																																						uc001wum.1																			0		p.V466V(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1396-1398)Gtc>Ttc		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							75	77	76					14																	38723832		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38723832C>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1396G>T	14.37:g.38723832C>A	ENSP00000353013:p.Val466Phe						p.V466F	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1743	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		466					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1396G>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128184	0.37533	.	.	ENSG00000176435	ENST00000342213	T	0.76709	-1.04	4.6	0.355	0.16069	.	2.302870	0.02364	N	0.077161	T	0.64494	0.2603	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.51482	-0.8700	10	0.72032	D	0.01	3.0E-4	2.1515	0.03801	0.1542:0.5096:0.1503:0.1858	.	466	Q86T13	CLC14_HUMAN	F	466	ENSP00000353013:V466F	ENSP00000353013:V466F	V	-	1	0	CLEC14A	37793583	0.000000	0.05858	0.007000	0.13788	0.127000	0.20565	0.017000	0.13399	-0.048000	0.13401	0.563000	0.77884	GTC		0.602	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		A	38723832	C	A	38723832	3	1	231	1	0	0	0	0	1	0	0	0	3499	565	20	5	80	5	CLEC14A	14	38723832	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		38723832	68625708	43	16289											
NR2F2	7026	broad.mit.edu	37	chr15	96877485	96877485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagcccaacaacatcatggGtatcgagaacatttgcgaac	14	7	9	11	2	1	1	1	0	0	1	2	3	1	1	1	1	6	2	1	1	5	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr15:96877485G>C	ENST00000394166.3	+	2	2012	c.623G>C	c.(622-624)gGt>gCt	p.G208A	NR2F2_ENST00000421109.2_Missense_Mutation_p.G75A|NR2F2_ENST00000453270.2_Missense_Mutation_p.G55A|NR2F2_ENST00000394171.2_Missense_Mutation_p.G55A|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	208	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACATCATGGGTATCGAGAAC	0.602																																						uc010uri.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(622-624)gGt>gCt		Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.							166	159	162					15																	96877485		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877485G>C	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.623G>C	15.37:g.96877485G>C	ENSP00000377721:p.Gly208Ala					NR2F2_uc002btp.3_Missense_Mutation_p.G75A|NR2F2_uc010urj.2_Missense_Mutation_p.G55A|NR2F2_uc010urk.2_Missense_Mutation_p.G55A	p.G208A	NM_021005	NP_001138629	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1847	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		208			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.623G>C	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018004	0.93404	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	L	0.36672	1.1	0.80722	D	1	D;P	0.89917	1.0;0.529	D;P	0.97110	1.0;0.654	D	0.94775	0.7948	10	0.14656	T	0.56	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	208;75	P24468;Q3KQR7	COT2_HUMAN;.	A	75;208;55;55	ENSP00000401674:G75A;ENSP00000377721:G208A;ENSP00000377726:G55A;ENSP00000389853:G55A	ENSP00000377721:G208A	G	+	2	0	NR2F2	94678489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.866000	0.99616	2.306000	0.77630	0.561000	0.74099	GGT		0.602	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			C	96877485	G	C	96877485	3	2	231	1	0	0	0	0	1	0	0	0	10628	1261	44	5	676	5	NR2F2	15	96877485	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		96877485	5653907	44	16290											
CDKN2D	1032	broad.mit.edu	37	chr19	10678076	10678076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccagggcgatggcggtGctgccaaacatcatgacctg	9	7	13	12	2	1	1	1	1	0	0	2	2	2	1	3	3	4	2	3	3	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:10678076G>A	ENST00000393599.2	-	2	483	c.159C>T	c.(157-159)agC>agT	p.S53S	CDKN2D_ENST00000335766.2_Silent_p.S53S|KRI1_ENST00000361821.5_5'Flank|KRI1_ENST00000312962.6_5'Flank|KRI1_ENST00000537964.1_5'Flank	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	53					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATGGCGGTGCTGCCAAACA	0.592																																						uc002mpa.3																			0				endometrium(3)|lung(2)|ovary(1)	6						c.(157-159)agC>agT		Homo sapiens cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (CDKN2D), transcript variant 1, mRNA.							118	116	116					19																	10678076		2203	4300	6503	SO:0001819	synonymous_variant	1032				anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:10678076G>A		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"Ankyrin repeat domain containing"	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.159C>T	19.37:g.10678076G>A						KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.3_Silent_p.S53S	p.S53S	NM_001800	NP_524145	P55273	CDN2D_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		1	461	-			53					Q13102|Q6FGE9	Silent	SNP	ENST00000393599.2	37	c.159C>T	CCDS12244.1																																																																																				0.592	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		A	10678076	G	A	10678076	2	1	231	1	0	0	0	0	0	0	0	1	3166	1310	46	3		3	CDKN2D	19	10678076	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08		10678076	48450907	45	16291											
CYP4F11	57834	broad.mit.edu	37	chr19	16025181	16025181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgttctcttggtcgaaaCggaaggggtcgtagacctgc	8	11	14	8	3	1	2	0	1	1	1	4	4	1	3	1	4	2	2	1	4	3	3	rs200410691		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:16025181C>T	ENST00000402119.4	-	11	1757	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_ENST00000326742.8_Silent_p.P422P|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R444H|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R119H	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTGGTCGAAACGGAAGGGGTC	0.587																																						uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1330-1332)cGt>cAt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	135	135		1331,1331	2.9	0.8	19		135	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/525,444/525	16025181	1,13005	2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025181C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1331G>A	19.37:g.16025181C>T	ENSP00000384588:p.Arg444His					CYP4F11_uc010eab.1_Silent_p.P422P|CYP4F11_uc002nbt.2_Missense_Mutation_p.R444H	p.R444H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN			11	1367	-			444						Missense_Mutation	SNP	ENST00000402119.4	37	c.1331G>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.611014	0.46631	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041	D;D	0.94000	-3.33;-3.33	2.93	2.93	0.34026	.	0.000000	0.64402	U	0.000003	D	0.96731	0.8933	M	0.90483	3.12	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96926	0.9677	10	0.87932	D	0	.	11.6202	0.51113	0.0:1.0:0.0:0.0	.	444	Q9HBI6	CP4FB_HUMAN	H	444	ENSP00000384588:R444H;ENSP00000248041:R444H	ENSP00000248041:R444H	R	-	2	0	CYP4F11	15886181	1.000000	0.71417	0.763000	0.31416	0.009000	0.06853	6.462000	0.73526	1.621000	0.50320	0.462000	0.41574	CGT		0.587	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		T	16025181	C	T	16025181	3	4	231	1	0	0	0	0	1	0	0	0	4186	536	19	1	251	1	CYP4F11	19	16025181	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	5347105	16025181	43103802	46	16292											
HKR1	284459	broad.mit.edu	37	chr19	37853365	37853365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagggtccagccctgaacGgagggcagatctagaggaaa	13	6	14	8	1	1	3	0	1	1	2	2	5	2	5	2	4	2	1	2	4	5	3	rs112164866		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:37853365G>A	ENST00000324411.4	+	6	937	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	HKR1_ENST00000589392.1_Missense_Mutation_p.R205Q|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.R204Q|HKR1_ENST00000541583.2_Missense_Mutation_p.R162Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	223					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCCTGAACGGAGGGCAGAT	0.468													G|||	1	0.000199681	0	0	5008	,	,		22190	0.001		0	False		,,,				2504	0					uc002ogb.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(667-669)cGg>cAg		Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.							81	80	80					19																	37853365		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853365G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.668G>A	19.37:g.37853365G>A	ENSP00000315505:p.Arg223Gln					HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002oga.3_Missense_Mutation_p.R205Q|HKR1_uc010xto.2_Missense_Mutation_p.R205Q|HKR1_uc002ogc.3_Missense_Mutation_p.R204Q|HKR1_uc010xtp.2_Missense_Mutation_p.R162Q|HKR1_uc002ogd.3_Missense_Mutation_p.R162Q	p.R223Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	937	+			223					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.668G>A	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.464154	0.01053	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.04862	3.67;3.61;3.54	2.71	-2.33	0.06724	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.19300	N	0.999976	B;B;B;B	0.14438	0.0;0.002;0.01;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.44817	-0.9303	9	0.11794	T	0.64	0.0023	0.836	0.01140	0.3429:0.1714:0.3168:0.1688	.	162;204;223;205	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	Q	162;204;259;223;162	ENSP00000375994:R204Q;ENSP00000315505:R223Q;ENSP00000438261:R162Q	ENSP00000315505:R223Q	R	+	2	0	HKR1	42545205	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	0.236000	0.17967	-0.651000	0.05415	-0.898000	0.02899	CGG		0.468	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		A	37853365	G	A	37853365	3	1	231	1	0	0	0	0	1	0	0	0	7194	1116	39	2	682	2	HKR1	19	37853365	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	21828184	37853365	21275618	47	16293											
CRX	1406	broad.mit.edu	37	chr19	48342915	48342915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccatgacctacgccccGgcctccgctttctgctcttc	4	12	7	18	3	2	1	0	1	2	0	4	1	3	1	6	1	3	2	6	1	2	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:48342915G>A	ENST00000221996.7	+	4	797	c.591G>A	c.(589-591)ccG>ccA	p.P197P	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.P197P	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	197					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P197P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTACGCCCCGGCCTCCGCTT	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.4																			1	Substitution - coding silent(1)	p.P197P(2)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(589-591)ccG>ccA		Homo sapiens cone-rod homeobox (CRX), mRNA.							60	63	62					19																	48342915		2203	4300	6503	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342915G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.591G>A	19.37:g.48342915G>A							p.P197P	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	3	795	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	197					Q0QD45	Silent	SNP	ENST00000221996.7	37	c.591G>A	CCDS12706.1																																																																																				0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		A	48342915	G	A	48342915	2	1	231	1	0	0	0	0	0	0	0	1	3902	1103	39	2		2	CRX	19	48342915	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	10489550	48342915	10786068	48	16294											
R3HDML	140902	broad.mit.edu	37	chr20	42979302	42979302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccttttctcttccagggGcaactggattggcgagtccc	5	12	12	12	1	1	0	0	0	1	0	5	2	4	1	3	5	1	1	3	5	1	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr20:42979302G>A	ENST00000217043.2	+	5	804	c.632G>A	c.(631-633)gGc>gAc	p.G211D	RP5-881L22.5_ENST00000430481.2_RNA|RP5-881L22.5_ENST00000438702.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	211						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCCAGGGGCAACTGGATT	0.567																																						uc002xls.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(631-633)gGc>gAc		Homo sapiens R3H domain containing-like (R3HDML), mRNA.							74	67	70					20																	42979302		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42979302G>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.632G>A	20.37:g.42979302G>A	ENSP00000217043:p.Gly211Asp						p.G211D	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	804	+		Myeloproliferative disorder(115;0.028)	211						Missense_Mutation	SNP	ENST00000217043.2	37	c.632G>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781513	0.90282	.	.	ENSG00000101074	ENST00000217043	T	0.16196	2.36	4.93	4.93	0.64822	CAP domain (2);	0.058955	0.64402	D	0.000003	T	0.49695	0.1572	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.61083	-0.7134	10	0.87932	D	0	.	17.7569	0.88451	0.0:0.0:1.0:0.0	.	211	Q9H3Y0	CRSPL_HUMAN	D	211	ENSP00000217043:G211D	ENSP00000217043:G211D	G	+	2	0	R3HDML	42412716	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.952000	0.93031	2.290000	0.77057	0.561000	0.74099	GGC		0.567	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		A	42979302	G	A	42979302	3	1	231	1	0	0	0	0	1	0	0	0	12889	1203	42	3	650	3	R3HDML	20	42979302	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		42979302	20046218	49	16295											
MPPED1	758	broad.mit.edu	37	chr22	43831125	43831125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggtgaagaagttcaaCgagtggctgggtaggtccct	10	8	16	7	2	1	2	1	1	0	1	2	4	2	2	1	4	2	3	1	4	4	2	rs368415701		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr22:43831125C>T	ENST00000417669.2	+	3	840	c.396C>T	c.(394-396)aaC>aaT	p.N132N	MPPED1_ENST00000538182.1_Silent_p.N165N|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_Silent_p.N26N|MPPED1_ENST00000443721.1_Silent_p.N132N|MPPED1_ENST00000542779.1_Silent_p.N132N			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	132							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGAAGTTCAACGAGTGGCTGG	0.682																																						uc011apz.2																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(493-495)aaC>aaT		Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.		C		1,3967		0,1,1983	38	45	43		396	0.3	1	22		43	0,8282		0,0,4141	no	coding-synonymous	MPPED1	NM_001044370.1		0,1,6124	TT,TC,CC		0.0,0.0252,0.0082		132/327	43831125	1,12249	1984	4141	6125	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43831125C>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.396C>T	22.37:g.43831125C>T						MPPED1_uc011apv.2_Silent_p.N132N|MPPED1_uc011apw.2_Silent_p.N26N|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Silent_p.N132N	p.N165N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			2	836	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	132					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.495C>T	CCDS46723.1																																																																																				0.682	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		T	43831125	C	T	43831125	2	4	231	1	0	0	0	0	0	0	0	1	9741	535	19	1		1	MPPED1	22	43831125	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08		43831125	7473441	50	16296											
SFRS17A	8227	broad.mit.edu	37	chrX	1712915	1712915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggggagatccggaatgTggacatccccatgctggacc	8	8	14	11	2	0	1	0	0	0	1	3	5	2	4	4	5	1	2	4	5	1	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chrX:1712915T>C	ENST00000313871.3	+	2	756	c.560T>C	c.(559-561)gTg>gCg	p.V187A	AKAP17A_ENST00000381261.3_Missense_Mutation_p.V187A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	187	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ATCCGGAATGTGGACATCCCC	0.607																																						uc004cqa.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(559-561)gTg>gCg		Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.							145	133	137					X																	1712915		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712915T>C	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.560T>C	X.37:g.1712915T>C	ENSP00000324827:p.Val187Ala					AKAP17A_uc010ncx.1_Missense_Mutation_p.V187A|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	p.V187A	NM_005088	NP_005079	Q02040	AK17A_HUMAN			1	756	+			187			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.560T>C	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	t	12.88	2.071307	0.36566	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.50277	0.75;0.75	2.34	2.34	0.29019	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	U	0.000006	T	0.64360	0.2591	.	.	.	0.27106	N	0.962507	P;D	0.76494	0.928;0.999	P;D	0.79108	0.632;0.992	T	0.57242	-0.7845	9	0.87932	D	0	-28.7259	10.2743	0.43501	0.0:0.0:0.0:1.0	.	187;187	Q02040-3;Q02040	.;AK17A_HUMAN	A	187	ENSP00000324827:V187A;ENSP00000370660:V187A	ENSP00000324827:V187A	V	+	2	0	AKAP17A	1672915	1.000000	0.71417	0.020000	0.16555	0.210000	0.24377	5.773000	0.68898	0.795000	0.33922	0.084000	0.15446	GTG		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		C	1712915	T	C	1712915	3	2	231	1	0	0	0	0	1	0	0	0	14173	1696	59	4	562	4	SFRS17A	23	1712915	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08		1712915	153557645	51	16297											
ZIC3	7547	broad.mit.edu	37	chrX	136649606	136649606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatcaagcaggagctgtcGtgcaagtggatcgacgaggc	10	7	14	10	3	1	0	1	0	0	0	3	4	1	2	1	3	3	3	1	3	3	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chrX:136649606G>A	ENST00000287538.5	+	1	1306	c.756G>A	c.(754-756)tcG>tcA	p.S252S	ZIC3_ENST00000370606.3_Silent_p.S252S	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	252					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCTGTCGTGCAAGTGGA	0.607																																						uc004fak.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(754-756)tcG>tcA		Homo sapiens Zic family member 3 (ZIC3), mRNA.							45	44	45					X																	136649606		2202	4298	6500	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649606G>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.756G>A	X.37:g.136649606G>A							p.S252S	NM_003413	NP_003404	O60481	ZIC3_HUMAN			0	1261	+	Acute lymphoblastic leukemia(192;0.000127)		252					B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.756G>A	CCDS14663.1																																																																																				0.607	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			A	136649606	G	A	136649606	2	1	231	1	0	0	0	0	0	0	0	1	17677	1132	40	1		1	ZIC3	23	136649606	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	134936691	136649606	18620954	52	16298											
ABCD3	5825	broad.mit.edu	37	chr1	94953473	94953473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccaaagtggaagaatgcTtttgcgaatgtctcaagctc	12	11	9	9	1	1	1	1	0	1	1	3	3	1	2	1	1	4	2	1	1	6	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:94953473T>C	ENST00000370214.4	+	13	1115	c.1091T>C	c.(1090-1092)cTt>cCt	p.L364P	ABCD3_ENST00000536817.1_Missense_Mutation_p.L291P|ABCD3_ENST00000454898.2_Missense_Mutation_p.L388P|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	364	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGAAGAATGCTTTTGCGAATG	0.333																																						uc010oto.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1162-1164)cTt>cCt		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.							96	100	99					1																	94953473		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94953473T>C	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1091T>C	1.37:g.94953473T>C	ENSP00000359233:p.Leu364Pro					ABCD3_uc001dqn.4_Missense_Mutation_p.L364P|ABCD3_uc010otp.2_Missense_Mutation_p.L291P|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.L52P	p.L388P	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	13	1265	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	364					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1163T>C	CCDS749.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543856	0.86022	.	.	ENSG00000117528	ENST00000454898;ENST00000536817;ENST00000370214	D;D;D	0.98876	-5.2;-5.2;-5.2	5.83	5.83	0.93111	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.99243	1.0885	10	0.87932	D	0	-15.7972	16.1984	0.82046	0.0:0.0:0.0:1.0	.	388;364	E7EUE1;P28288	.;ABCD3_HUMAN	P	388;291;364	ENSP00000403357:L388P;ENSP00000440692:L291P;ENSP00000359233:L364P	ENSP00000359233:L364P	L	+	2	0	ABCD3	94726061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.223000	0.72356	0.402000	0.26972	CTT		0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		C	94953473	T	C	94953473	3	2	232	1	0	0	0	0	1	0	0	0	62	1609	56	4	1172	4	ABCD3	1	94953473	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08		94953473	154297148	1	16299											
NOTCH2	4853	broad.mit.edu	37	chr1	120464949	120464949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttcaggcagccagagaGagccatgcttacgctttcgt	10	9	10	12	2	1	2	1	0	0	2	2	3	1	2	3	1	5	3	3	1	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:120464949G>C	ENST00000256646.2	-	28	5342	c.5123C>G	c.(5122-5124)tCt>tGt	p.S1708C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1708					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCAGAGAGAGCCATGCTT	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5122-5124)tCt>tGt		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							85	82	83					1																	120464949		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120464949G>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5123C>G	1.37:g.120464949G>C	ENSP00000256646:p.Ser1708Cys						p.S1708C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	5420	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1708					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5123C>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650015	0.47362	.	.	ENSG00000134250	ENST00000256646	D	0.82255	-1.59	5.65	3.56	0.40772	.	0.212991	0.23610	U	0.046345	T	0.59032	0.2164	L	0.51422	1.61	0.26486	N	0.975022	P	0.39624	0.681	B	0.33750	0.169	T	0.51545	-0.8692	10	0.42905	T	0.14	.	7.1146	0.25409	0.1053:0.0:0.7424:0.1524	.	1708	Q04721	NOTC2_HUMAN	C	1708	ENSP00000256646:S1708C	ENSP00000256646:S1708C	S	-	2	0	NOTCH2	120266472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.891000	0.56227	0.677000	0.31305	0.655000	0.94253	TCT		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120464949	G	C	120464949	3	2	232	1	0	0	0	0	1	0	0	0	10548	942	33	5	2320	5	NOTCH2	1	120464949	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	25511476	120464949	128785672	2	16300											
FLG	2312	broad.mit.edu	37	chr1	152278815	152278815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgagtgcctggagccGtctcctgattgttcctcatt	5	13	10	13	1	2	2	1	2	1	0	4	4	3	3	5	1	2	1	5	1	0	3	rs200790612		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152278815G>A	ENST00000368799.1	-	3	8582	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2849	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8545-8547)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.		G		2,4290	4.2+/-10.8	0,2,2144	403	606	539		8547	-4.7	0	1		539	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,3,6443	AA,AG,GG		0.0116,0.0466,0.0233		2849/4062	152278815	3,12889	2146	4300	6446	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278815G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8547C>T	1.37:g.152278815G>A							p.D2849D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2849			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8547C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152278815	G	A	152278815	2	1	232	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152278815	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	31813866	152278815	96971806	3	16301											
FLG	2312	broad.mit.edu	37	chr1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtccagacctatctaccGattgctcttggtgggacccc	7	11	10	13	1	2	1	0	0	2	1	3	3	3	2	5	2	2	1	5	2	2	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152280892G>A	ENST00000368799.1	-	3	6505	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2157	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATCTACCGATTGCTCTTG	0.597									Ichthyosis																													uc001ezu.1																			0		p.S2157S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6469-6471)tCg>tTg		Homo sapiens filaggrin (FLG), mRNA.							386	328	348					1																	152280892		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280892G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6470C>T	1.37:g.152280892G>A	ENSP00000357789:p.Ser2157Leu						p.S2157L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6506	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2157			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6470C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310525	0.10733	.	.	ENSG00000143631	ENST00000368799	T	0.03745	3.82	2.59	-1.71	0.08133	.	.	.	.	.	T	0.01061	0.0035	L	0.55103	1.725	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45483	-0.9258	9	0.26408	T	0.33	.	4.0063	0.09603	0.1329:0.0:0.3602:0.5069	.	2157	P20930	FILA_HUMAN	L	2157	ENSP00000357789:S2157L	ENSP00000357789:S2157L	S	-	2	0	FLG	150547516	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.268000	0.18571	-0.390000	0.07774	-0.663000	0.03849	TCG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152280892	G	A	152280892	3	1	232	1	0	0	0	0	1	0	0	0	5922	1059	37	2	5719	2	FLG	1	152280892	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2077	152280892	96969729	4	16302											
SPTA1	6708	broad.mit.edu	37	chr1	158614180	158614180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttgatcacagttcccctGgaacatctatgaggaatcaa	14	10	7	10	0	3	2	2	2	1	0	4	4	4	4	2	2	2	1	2	2	5	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:158614180G>C	ENST00000368147.4	-	30	4381	c.4201C>G	c.(4201-4203)Cag>Gag	p.Q1401E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1401					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTCCCCTGGAACATCTAT	0.453																																						uc001fst.1																			0		p.Q1401Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4201-4203)Cag>Gag		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							88	85	86					1																	158614180		1949	4150	6099	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614180G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4201C>G	1.37:g.158614180G>C	ENSP00000357129:p.Gln1401Glu						p.Q1401E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4400	-	all_hematologic(112;0.0378)		1401					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4201C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705096	0.15172	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.03	4.11	0.48088	.	1.727610	0.03930	N	0.285189	T	0.27559	0.0677	L	0.50333	1.59	0.26401	N	0.976427	B	0.11235	0.004	B	0.19946	0.027	T	0.27365	-1.0076	10	0.30854	T	0.27	.	11.9436	0.52915	0.0:0.0:0.6848:0.3152	.	1401	P02549	SPTA1_HUMAN	E	1401	ENSP00000357130:Q1401E;ENSP00000357129:Q1401E	ENSP00000357129:Q1401E	Q	-	1	0	SPTA1	156880804	1.000000	0.71417	0.906000	0.35671	0.186000	0.23388	5.217000	0.65252	1.461000	0.47929	0.591000	0.81541	CAG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158614180	G	C	158614180	3	2	232	1	0	0	0	0	1	0	0	0	15115	1357	47	5	3150	5	SPTA1	1	158614180	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	6333288	158614180	90636441	5	16303											
F5	2153	broad.mit.edu	37	chr1	169525893	169525893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcttgccttgcaaatGttttggggtgagagaagata	10	14	13	4	0	1	3	0	1	1	2	1	5	1	3	1	2	2	3	1	2	3	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:169525893G>A	ENST00000367797.3	-	6	1144	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	F5_ENST00000367796.3_Missense_Mutation_p.H315Y|F5_ENST00000546081.1_Missense_Mutation_p.H178Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	315	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTTGCAAATGTTTTGGGGTG	0.483																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(943-945)Cat>Tat		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						133	125	127					1																	169525893		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169525893G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.943C>T	1.37:g.169525893G>A	ENSP00000356771:p.His315Tyr					F5_uc010plr.1_Non-coding_Transcript	p.H315Y	NM_000130	NP_000121	P12259	FA5_HUMAN			5	1088	-	all_hematologic(923;0.208)		315			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.943C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859621	0.91433	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99853	-7.18;-7.18;-7.18	6.07	6.07	0.98685	Cupredoxin (2);	0.086238	0.85682	D	0.000000	D	0.99894	0.9949	M	0.86502	2.82	0.41322	D	0.987188	D	0.89917	1.0	D	0.71656	0.974	D	0.96936	0.9684	9	0.87932	D	0	-26.8539	20.6439	0.99570	0.0:0.0:1.0:0.0	.	315	P12259	FA5_HUMAN	Y	315;315;178	ENSP00000356771:H315Y;ENSP00000356770:H315Y;ENSP00000439664:H178Y	ENSP00000356770:H315Y	H	-	1	0	F5	167792517	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	9.434000	0.97515	2.890000	0.99128	0.650000	0.86243	CAT		0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169525893	G	A	169525893	3	1	232	1	0	0	0	0	1	0	0	0	5348	1377	48	3	5811	3	F5	1	169525893	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	10911713	169525893	79724728	6	16304											
RGL1	23179	broad.mit.edu	37	chr1	183849845	183849845	+	Missense_Mutation	SNP	A	A	C																															cttacagaaactgctggattAtctcacacggatgatgccgg																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849845A>C	ENST00000360851.3	+	5	699	c.521A>C	c.(520-522)tAt>tCt	p.Y174S	RGL1_ENST00000304685.4_Missense_Mutation_p.Y209S|RGL1_ENST00000536277.1_Missense_Mutation_p.Y172S|RGL1_ENST00000539189.1_Missense_Mutation_p.Y174S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	174	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.		Y -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGCTGGATTATCTCACACGG	0.498																																						uc001gqm.3																			2	Substitution - Missense(2)	p.Y209S(4)	breast(2)	breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(625-627)tAt>tCt		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							93	88	90					1																	183849845		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183849845A>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.521A>C	1.37:g.183849845A>C	ENSP00000354097:p.Tyr174Ser					RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.Y172S|RGL1_uc010poh.2_Missense_Mutation_p.Y172S|RGL1_uc001gqo.3_Missense_Mutation_p.Y174S|RGL1_uc010poi.2_Missense_Mutation_p.Y174S	p.Y209S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			5	1087	+			174					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.626A>C		.	.	.	.	.	.	.	.	.	.	A	18.72	3.685175	0.68157	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.23	4.08	0.47627	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.065908	0.64402	D	0.000005	T	0.35158	0.0922	M	0.72479	2.2	0.51012	D	0.999901	B;B;B;B	0.18741	0.002;0.03;0.03;0.03	B;B;B;B	0.21708	0.013;0.036;0.022;0.022	T	0.21552	-1.0242	10	0.87932	D	0	.	12.3767	0.55283	0.8588:0.1412:0.0:0.0	.	174;172;174;209	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	S	209;209;172;174;174	ENSP00000303192:Y209S;ENSP00000356501:Y209S;ENSP00000438662:Y172S;ENSP00000354097:Y174S;ENSP00000437355:Y174S	ENSP00000303192:Y209S	Y	+	2	0	RGL1	182116468	1.000000	0.71417	0.971000	0.41717	0.795000	0.44927	6.856000	0.75450	0.898000	0.36418	0.454000	0.30748	TAT		0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		C	183849845	A	C	183849845	3	2	232	1	0	0	0	0	1	0	0	0	13276	449	16	5	644	5	RGL1	1	183849845	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	14323952	183849845	65400776	7	16305	19	2									
RGL1	23179	broad.mit.edu	37	chr1	183849848	183849848	+	Missense_Mutation	SNP	T	T	A																															acagaaactgctggattatcTcacacggatgatgccgggct																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849848T>A	ENST00000360851.3	+	5	702	c.524T>A	c.(523-525)cTc>cAc	p.L175H	RGL1_ENST00000304685.4_Missense_Mutation_p.L210H|RGL1_ENST00000536277.1_Missense_Mutation_p.L173H|RGL1_ENST00000539189.1_Missense_Mutation_p.L175H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	175	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGATTATCTCACACGGATG	0.488																																						uc001gqm.3																			0		p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(628-630)cTc>cAc		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							92	87	89					1																	183849848		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183849848T>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.524T>A	1.37:g.183849848T>A	ENSP00000354097:p.Leu175His					RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.L173H|RGL1_uc010poh.2_Missense_Mutation_p.L173H|RGL1_uc001gqo.3_Missense_Mutation_p.L175H|RGL1_uc010poi.2_Missense_Mutation_p.L175H	p.L210H	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			5	1090	+			175					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.629T>A		.	.	.	.	.	.	.	.	.	.	T	20.3	3.965059	0.74131	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.34	5.34	0.76211	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.82323	2.585	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;P;P	0.68483	0.958;0.908;0.908;0.908	T	0.68739	-0.5329	10	0.66056	D	0.02	.	15.6185	0.76787	0.0:0.0:0.0:1.0	.	175;173;175;210	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	210;210;173;175;175	ENSP00000303192:L210H;ENSP00000356501:L210H;ENSP00000438662:L173H;ENSP00000354097:L175H;ENSP00000437355:L175H	ENSP00000303192:L210H	L	+	2	0	RGL1	182116471	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	5.993000	0.70616	2.144000	0.66660	0.454000	0.30748	CTC		0.488	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		A	183849848	T	A	183849848	3	1	232	1	0	0	0	0	1	0	0	0	13276	1551	54	5	647	5	RGL1	1	183849848	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	3	183849848	65400773	8	16306	19	2									
ASPM	259266	broad.mit.edu	37	chr1	197112574	197112574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctttctcattaaaagAaacttttgaaacgttggcac	14	13	6	8	1	1	2	1	1	1	1	2	2	1	2	0	1	4	3	0	1	5	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:197112574A>G	ENST00000367409.4	-	3	1064	c.808T>C	c.(808-810)Tct>Cct	p.S270P	ASPM_ENST00000294732.7_Missense_Mutation_p.S270P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	270					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCATTAAAAGAAACTTTTGAA	0.378																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(808-810)Tct>Cct		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							93	91	92					1																	197112574		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112574A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.808T>C	1.37:g.197112574A>G	ENSP00000356379:p.Ser270Pro					ASPM_uc001gtv.3_Missense_Mutation_p.S270P|ASPM_uc001gtw.4_Intron	p.S270P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			2	1065	-			270					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.808T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	3.168	-0.170715	0.06421	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58940	0.3;1.59	4.78	-3.2	0.05156	.	1.231100	0.05595	N	0.575237	T	0.35856	0.0946	N	0.22421	0.69	0.09310	N	1	B;B	0.22604	0.072;0.0	B;B	0.20384	0.029;0.0	T	0.18650	-1.0330	10	0.38643	T	0.18	.	1.106	0.01693	0.2418:0.2934:0.2953:0.1695	.	270;270	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	P	270	ENSP00000356379:S270P;ENSP00000294732:S270P	ENSP00000294732:S270P	S	-	1	0	ASPM	195379197	0.000000	0.05858	0.082000	0.20525	0.018000	0.09664	-1.280000	0.02804	-0.232000	0.09811	-0.322000	0.08575	TCT		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197112574	A	G	197112574	3	3	232	1	0	0	0	0	1	0	0	0	1056	246	9	4	9729	4	ASPM	1	197112574	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	13262726	197112574	52138047	9	16307											
PUM2	23369	broad.mit.edu	37	chr2	20482930	20482930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgagtgccaattggccGaaacagaccatttgtgctgc	9	10	12	10	1	0	2	0	1	0	1	0	3	0	2	3	2	4	2	3	2	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:20482930G>A	ENST00000361078.2	-	11	1520	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	PUM2_ENST00000319801.5_Missense_Mutation_p.R500W|PUM2_ENST00000536417.1_Missense_Mutation_p.R444W|PUM2_ENST00000338086.5_Missense_Mutation_p.R500W|PUM2_ENST00000403432.1_Missense_Mutation_p.R500W			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	500					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATTGGCCGAAACAGACCA	0.453																																						uc002rds.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1498-1500)Cgg>Tgg		Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.							68	72	70					2																	20482930		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482930G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1498C>T	2.37:g.20482930G>A	ENSP00000354370:p.Arg500Trp					PUM2_uc002rdt.1_Missense_Mutation_p.R500W|PUM2_uc002rdr.2_Missense_Mutation_p.R439W|PUM2_uc010yjy.1_Missense_Mutation_p.R500W|PUM2_uc002rdu.1_Missense_Mutation_p.R500W|PUM2_uc010yjz.1_Missense_Mutation_p.R439W	p.R500W	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			10	1516	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		500					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1498C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980274	0.74474	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.20598	2.07;2.35;2.31;2.06;2.07;2.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.61218	1.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.99;1.0	D;B;D	0.87578	0.998;0.432;0.998	T	0.12268	-1.0554	10	0.52906	T	0.07	-13.0607	15.2954	0.73902	0.0:0.0:0.86:0.1399	.	444;500;500	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	W	500;500;500;391;500;444	ENSP00000338173:R500W;ENSP00000354370:R500W;ENSP00000326746:R500W;ENSP00000409905:R391W;ENSP00000385992:R500W;ENSP00000440093:R444W	ENSP00000326746:R500W	R	-	1	2	PUM2	20346411	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.258000	0.65479	2.868000	0.98415	0.555000	0.69702	CGG		0.453	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		A	20482930	G	A	20482930	3	1	232	1	0	0	0	0	1	0	0	0	12826	1057	37	2	1736	2	PUM2	2	20482930	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		20482930	222716443	10	16308											
QPCT	25797	broad.mit.edu	37	chr2	37599531	37599531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaattgggtttgctcaagGatcactctttggaggggcgg	8	12	15	6	1	3	1	2	1	1	0	3	3	3	3	0	6	1	2	0	6	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:37599531G>A	ENST00000338415.3	+	6	1014	c.856G>A	c.(856-858)Gat>Aat	p.D286N	QPCT_ENST00000537448.1_Missense_Mutation_p.D237N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	286					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTGCTCAAGGATCACTCTTT	0.358																																						uc002rqg.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(856-858)Gat>Aat		Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.							191	188	189					2																	37599531		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37599531G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.856G>A	2.37:g.37599531G>A	ENSP00000344829:p.Asp286Asn						p.D286N	NM_012413	NP_036545	Q16769	QPCT_HUMAN			5	978	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	286					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.856G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	9.041	0.989780	0.18966	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.42	3.6	0.41247	Peptidase M28 (1);	0.217310	0.49305	D	0.000146	T	0.25827	0.0629	N	0.13140	0.3	0.39831	D	0.972979	B;B	0.11235	0.001;0.004	B;B	0.16722	0.006;0.016	T	0.08126	-1.0737	10	0.22706	T	0.39	-3.9328	5.8776	0.18838	0.3072:0.0:0.6928:0.0	.	237;286	Q16769-2;Q16769	.;QPCT_HUMAN	N	286;237;237;51	ENSP00000344829:D286N;ENSP00000385391:D237N;ENSP00000441606:D237N;ENSP00000389227:D51N	ENSP00000344829:D286N	D	+	1	0	QPCT	37453035	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.174000	0.42482	1.415000	0.47037	0.655000	0.94253	GAT		0.358	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			A	37599531	G	A	37599531	3	1	232	1	0	0	0	0	1	0	0	0	12874	1174	41	3	878	3	QPCT	2	37599531	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	17116601	37599531	205599842	11	16309											
SLC5A7	60482	broad.mit.edu	37	chr2	108614387	108614387	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacactggtgggagggcTctattctgtggcctacactg	7	11	13	10	0	2	0	0	0	2	0	2	1	2	1	1	4	2	2	1	4	3	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:108614387T>A	ENST00000264047.2	+	5	818	c.542T>A	c.(541-543)cTc>cAc	p.L181H	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L181H|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L76H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	181					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGGGAGGGCTCTATTCTGTG	0.473																																						uc002tdv.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(541-543)cTc>cAc		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						257	225	236					2																	108614387		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614387T>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.542T>A	2.37:g.108614387T>A	ENSP00000264047:p.Leu181His					SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L181H|SLC5A7_uc010ywn.2_Missense_Mutation_p.L68H	p.L181H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			4	818	+			181					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.542T>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580456	0.86645	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.91686	-2.89;-2.89;-2.89	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-40.3761	15.1377	0.72583	0.0:0.0:0.0:1.0	.	181	Q9GZV3	SC5A7_HUMAN	H	181;76;181	ENSP00000387346:L181H;ENSP00000445351:L76H;ENSP00000264047:L181H	ENSP00000264047:L181H	L	+	2	0	SLC5A7	107980819	1.000000	0.71417	0.987000	0.45799	0.912000	0.54170	8.040000	0.89188	1.984000	0.57885	0.533000	0.62120	CTC		0.473	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108614387	T	A	108614387	3	1	232	1	0	0	0	0	1	0	0	0	14670	1551	54	5	556	5	SLC5A7	2	108614387	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	71014856	108614387	134584986	12	16310											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530385	125530385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtttcagctccttcagAgatcacctttgccatcgatg	7	13	8	13	2	3	1	3	0	0	1	6	3	5	1	4	1	2	2	4	1	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:125530385A>G	ENST00000431078.1	+	17	2904	c.2540A>G	c.(2539-2541)gAg>gGg	p.E847G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	847	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTCCTTCAGAGATCACCTTT	0.488																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2542-2544)gAg>gGg		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							149	137	141					2																	125530385		1933	4129	6062	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530385A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2540A>G	2.37:g.125530385A>G	ENSP00000399013:p.Glu847Gly					CNTNAP5_uc002tno.3_Missense_Mutation_p.E847G	p.E848G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2907	+			847			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2543A>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	a	19.02	3.746205	0.69418	.	.	ENSG00000155052	ENST00000431078	T	0.39056	1.1	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47852	D	0.000215	T	0.68256	0.2981	M	0.88181	2.935	0.39061	D	0.960536	D	0.76494	0.999	D	0.71414	0.973	T	0.73820	-0.3862	10	0.37606	T	0.19	.	14.7806	0.69764	1.0:0.0:0.0:0.0	.	847	Q8WYK1	CNTP5_HUMAN	G	847	ENSP00000399013:E847G	ENSP00000399013:E847G	E	+	2	0	CNTNAP5	125246855	1.000000	0.71417	0.993000	0.49108	0.746000	0.42486	2.984000	0.49353	2.096000	0.63516	0.524000	0.50904	GAG		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125530385	A	G	125530385	3	3	232	1	0	0	0	0	1	0	0	0	3650	304	11	4	2606	4	CNTNAP5	2	125530385	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	16915998	125530385	117668988	13	16311											
SCN7A	6332	broad.mit.edu	37	chr2	167273364	167273364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacctttctccacttgttggGtcaatgcattcatagaatct	10	15	6	10	0	4	1	2	0	2	1	5	1	4	1	2	1	2	2	2	1	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:167273364G>A	ENST00000409855.1	-	20	3393	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1089					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CACTTGTTGGGTCAATGCATT	0.398																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(3265-3267)gaC>gaT		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							107	94	98					2																	167273364		1887	4113	6000	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167273364G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3267C>T	2.37:g.167273364G>A						SCN7A_uc010fpm.2_Non-coding_Transcript	p.D1089D	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			19	3397	-			1089						Silent	SNP	ENST00000409855.1	37	c.3267C>T	CCDS46442.1																																																																																				0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167273364	G	A	167273364	2	1	232	1	0	0	0	0	0	0	0	1	13923	1252	44	3		3	SCN7A	2	167273364	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	41742979	167273364	75926009	14	16312											
TTN	7273	broad.mit.edu	37	chr2	179453519	179453519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaccacagtcatctctTctttgcttactttagtgact	9	16	4	12	0	3	1	1	1	2	0	5	1	4	1	2	0	3	1	2	0	3	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179453519T>C	ENST00000591111.1	-	254	58234	c.58010A>G	c.(58009-58011)gAa>gGa	p.E19337G	TTN_ENST00000589042.1_Missense_Mutation_p.E20978G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12105G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18410G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12038G|TTN_ENST00000460472.2_Missense_Mutation_p.E11913G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19337	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCATCTCTTCTTTGCTTAC	0.438																																						uc021vsy.1																			0		p.T18410fs*15(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55228-55230)gAa>gGa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87	83	85					2																	179453519		1898	4108	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453519T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58010A>G	2.37:g.179453519T>C	ENSP00000465570:p.Glu19337Gly					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12105G|TTN_uc021vta.1_Missense_Mutation_p.E12038G|TTN_uc021vtb.1_Missense_Mutation_p.E11913G	p.E18410G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	55454	-			19337			Fibronectin type-III 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55229A>G		.	.	.	.	.	.	.	.	.	.	T	13.92	2.382107	0.42207	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56963	0.2021	N	0.21508	0.67	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.57911	0.829;0.829;0.829;0.829	T	0.61594	-0.7031	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	11913;12038;12105;19337	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	18410;11913;12105;12038;11911	ENSP00000343764:E18410G;ENSP00000434586:E11913G;ENSP00000340554:E12105G;ENSP00000352154:E12038G	ENSP00000340554:E12105G	E	-	2	0	TTN	179161765	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.991000	0.88244	2.367000	0.80283	0.528000	0.53228	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179453519	T	C	179453519	3	2	232	1	0	0	0	0	1	0	0	0	16732	1783	62	4	45282	4	TTN	2	179453519	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	12180155	179453519	63745854	15	16313											
STAT1	6772	broad.mit.edu	37	chr2	191862990	191862990	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttcttgagtaacagctGttcttgtttctgatcactct	7	18	6	10	0	6	2	1	2	5	0	6	2	6	2	0	0	2	4	0	0	1	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191862990G>A	ENST00000361099.3	-	8	973	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q196*|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q196*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q198*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	196					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AGTAACAGCTGTTCTTGTTTC	0.343																																						uc010fse.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(586-588)Cag>Tag		Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	Fludarabine(DB01073)						171	164	167					2																	191862990		2202	4299	6501	SO:0001587	stop_gained	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862990G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.586C>T	2.37:g.191862990G>A	ENSP00000354394:p.Gln196*					STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	p.Q196*	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		6	1018	-			196					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Nonsense_Mutation	SNP	ENST00000361099.3	37	c.586C>T	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021814	0.93462	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	.	.	.	4.59	1.5	0.22942	.	0.266345	0.41294	D	0.000916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-15.295	9.6072	0.39641	0.0:0.1141:0.4629:0.423	.	.	.	.	X	196;196;196;198;104	.	ENSP00000354394:Q196X	Q	-	1	0	STAT1	191571235	0.986000	0.35501	0.921000	0.36526	0.063000	0.16089	1.332000	0.33805	0.627000	0.30340	-0.182000	0.12963	CAG		0.343	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		A	191862990	G	A	191862990	4	1	232	1	0	0	0	0	0	1	0	0	15263	1386	48	3	1742	3	STAT1	2	191862990	Nonsense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	12409471	191862990	51336383	16	16314											
STAT4	6775	broad.mit.edu	37	chr2	191926501	191926501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttaagtaccaacggccTctgagggtgggttggcatac	8	11	14	8	1	1	1	0	1	1	0	1	1	1	1	2	5	3	4	2	5	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191926501T>C	ENST00000392320.2	-	10	1302	c.988A>G	c.(988-990)Agg>Ggg	p.R330G	STAT4_ENST00000358470.4_Missense_Mutation_p.R330G	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	330					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAACGGCCTCTGAGGGTGG	0.403																																						uc002usm.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(988-990)Agg>Ggg		Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.							229	240	236					2																	191926501		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191926501T>C		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.988A>G	2.37:g.191926501T>C	ENSP00000376134:p.Arg330Gly					STAT4_uc002usn.2_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	p.R330G	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		9	1303	-			330					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.988A>G	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756094	0.69648	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.91740	-2.9;-2.9	5.56	5.56	0.83823	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.050653	0.85682	D	0.000000	D	0.93684	0.7982	L	0.56124	1.755	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.64144	0.922;0.922;0.922	D	0.93113	0.6518	10	0.44086	T	0.13	-15.4803	11.668	0.51385	0.0:0.0:0.148:0.852	.	239;330;330	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	G	330	ENSP00000351255:R330G;ENSP00000376134:R330G	ENSP00000351255:R330G	R	-	1	2	STAT4	191634746	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.558000	0.60789	2.115000	0.64714	0.477000	0.44152	AGG		0.403	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		C	191926501	T	C	191926501	3	2	232	1	0	0	0	0	1	0	0	0	15266	1550	54	4	1318	4	STAT4	2	191926501	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	63511	191926501	51272872	17	16315											
SPHKAP	80309	broad.mit.edu	37	chr2	228883868	228883868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaccacagacagccaCggcactggccacctgagtca	12	3	9	17	1	1	3	1	1	0	2	1	3	1	3	5	2	1	1	5	2	0	0	rs149295795	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:228883868C>T	ENST00000392056.3	-	7	1748	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V568M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	568						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGACAGCCACGGCACTGGCC	0.562													C|||	9	0.00179712	0	0	5008	,	,		21277	0.0079		0	False		,,,				2504	0.001					uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1702-1704)Gtg>Atg		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	0,4406		0,0,2203	108	99	102		1702,1702	1.7	0	2	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	568/1701,568/1672	228883868	1,13005	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883868C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1702G>A	2.37:g.228883868C>T	ENSP00000375909:p.Val568Met					SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	p.V568M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	1749	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	568					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1702G>A	CCDS46537.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	C	16.30	3.084153	0.55861	0.0	1.16E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.51817	0.69;0.69	5.84	1.68	0.24146	.	0.177941	0.48286	D	0.000184	T	0.53174	0.1780	M	0.68952	2.095	0.38794	D	0.955041	D;D	0.89917	0.999;1.0	P;D	0.71656	0.839;0.974	T	0.59500	-0.7443	10	0.87932	D	0	.	9.4747	0.38864	0.0:0.6905:0.0:0.3095	.	568;568	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	568	ENSP00000375909:V568M;ENSP00000339886:V568M	ENSP00000339886:V568M	V	-	1	0	SPHKAP	228592112	0.989000	0.36119	0.003000	0.11579	0.862000	0.49288	2.852000	0.48310	0.004000	0.14682	-0.140000	0.14226	GTG		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228883868	C	T	228883868	3	4	232	1	0	0	0	0	1	0	0	0	15047	536	19	1	3424	1	SPHKAP	2	228883868	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	36957367	228883868	14315505	18	16316											
C3orf45	132228	broad.mit.edu	37	chr3	50324238	50324238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggttcctgctgctgctCgcgctgctggtgctcacttg	2	12	15	12	2	1	0	1	0	0	0	3	1	2	1	1	3	5	7	1	3	0	2	rs116862338	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:50324238C>T	ENST00000316436.3	+	3	393	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	102						integral component of membrane (GO:0016021)											TGCTGCTGCTCGCGCTGCTGG	0.617													C|||	2	0.000399361	8e-04	0	5008	,	,		21209	0.001		0	False		,,,				2504	0					uc003cyz.3																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(304-306)ctC>ctT		Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.							85	81	82					3																	50324238		2203	4300	6503	SO:0001819	synonymous_variant	132228					integral to membrane		g.chr3:50324238C>T	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 45"	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.306C>T	3.37:g.50324238C>T							p.L102L	NM_153215	NP_694947	Q8N112	CC045_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	333	+			102						Silent	SNP	ENST00000316436.3	37	c.306C>T	CCDS2814.1																																																																																				0.617	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		T	50324238	C	T	50324238	2	4	232	1	0	0	0	0	0	0	0	1	2231	871	31	2		2	C3orf45	3	50324238	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08		50324238	147698192	19	16317											
STAB1	23166	broad.mit.edu	37	chr3	52540843	52540843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcccaagcactgcagcGaggagcagcacaagattgtg	11	6	12	12	1	0	1	0	0	0	1	1	3	1	2	2	1	6	4	2	1	2	1	rs371539004	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:52540843G>A	ENST00000321725.6	+	18	2042	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	656					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCACTGCAGCGAGGAGCAGCA	0.642													G|||	2	0.000399361	0	0	5008	,	,		18769	0.002		0	False		,,,				2504	0					uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1966-1968)Gag>Aag		Homo sapiens stabilin 1 (STAB1), mRNA.		G	LYS/GLU	1,4405		0,1,2202	64	58	60		1966	3.5	0.6	3		60	0,8598		0,0,4299	no	missense	STAB1	NM_015136.2	56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	656/2571	52540843	1,13003	2203	4299	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540843G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1966G>A	3.37:g.52540843G>A	ENSP00000312946:p.Glu656Lys					STAB1_uc003dei.1_Missense_Mutation_p.E656K	p.E656K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	17	2040	+			656					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1966G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695304	0.68386	2.27E-4	0.0	ENSG00000010327	ENST00000321725	D	0.85088	-1.94	4.43	3.55	0.40652	.	0.414587	0.22819	N	0.055258	T	0.80138	0.4568	N	0.20766	0.605	0.28945	N	0.890747	P;D	0.61697	0.669;0.99	B;P	0.51170	0.122;0.661	T	0.74822	-0.3534	10	0.44086	T	0.13	.	11.4866	0.50356	0.0:0.2077:0.7923:0.0	.	656;656	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	K	656	ENSP00000312946:E656K	ENSP00000312946:E656K	E	+	1	0	STAB1	52515883	1.000000	0.71417	0.579000	0.28588	0.984000	0.73092	5.116000	0.64661	1.042000	0.40150	0.462000	0.41574	GAG		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52540843	G	A	52540843	3	1	232	1	0	0	0	0	1	0	0	0	15236	1059	37	2	2036	2	STAB1	3	52540843	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2216605	52540843	145481587	20	16318											
C3orf67	200844	broad.mit.edu	37	chr3	58856003	58856003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatttttactgttccGtgtaatacttgttcctctgt	6	21	6	8	1	2	1	0	1	2	0	4	1	4	1	2	0	2	3	2	0	3	9			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:58856003G>A	ENST00000482387.1	-	4	469	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	C3orf67_ENST00000295966.7_Missense_Mutation_p.R125W|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R45W			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	125										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTACTGTTCCGTGTAATACTT	0.378																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(373-375)Cgg>Tgg		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							226	185	199					3																	58856003		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58856003G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.373C>T	3.37:g.58856003G>A	ENSP00000417122:p.Arg125Trp					C3orf67_uc003dks.1_5'Flank|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R33W	p.R125W	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	7	782	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	125					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.373C>T		.	.	.	.	.	.	.	.	.	.	G	11.05	1.525033	0.27299	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51325	0.71;0.71;0.71	5.98	0.81	0.18732	.	0.469271	0.20788	N	0.085667	T	0.32882	0.0844	L	0.51422	1.61	0.09310	N	0.999998	B;B	0.34255	0.445;0.054	B;B	0.25140	0.058;0.017	T	0.21245	-1.0251	10	0.59425	D	0.04	-6.3094	5.7781	0.18292	0.19:0.0:0.2587:0.5512	.	45;125	C9J3M8;Q6ZVT6-2	.;.	W	125;125;45	ENSP00000295966:R125W;ENSP00000417122:R125W;ENSP00000417271:R45W	ENSP00000295966:R125W	R	-	1	2	C3orf67	58831043	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.463000	0.21972	0.394000	0.25230	-0.293000	0.09583	CGG		0.378	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		A	58856003	G	A	58856003	3	1	232	1	0	0	0	0	1	0	0	0	2241	1144	40	1	1354	1	C3orf67	3	58856003	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	6315160	58856003	139166427	21	16319											
TBC1D23	55773	broad.mit.edu	37	chr3	100002647	100002648	+	Frame_Shift_Ins	INS	-	-	A																															atgccataatgaataagtacINSattcccaggtaaaatatgat																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:100002647_100002648insA	ENST00000394144.4	+	4	475_476	c.468_469insA	c.(469-471)attfs	p.I157fs	TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.I157fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	157	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGAATAAGTACATTCCCAGGTA	0.381																																						uc003dtt.3																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(466-471)tacattfs		Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100002647_100002648insA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.469dupA	3.37:g.100002648_100002648dupA	ENSP00000377700:p.Ile157fs					TBC1D23_uc003dts.3_Frame_Shift_Ins_p.Y156fs	p.Y156fs	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN			3	645_646	+			156			Rab-GAP TBC.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	ENST00000394144.4	37	c.468_469insA	CCDS56265.1																																																																																				0.381	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		A	100002648	-	A	100002647	7	5	232	1	0	1	1	0	0	0	0	0	15610	489	17	0	482	0	TBC1D23	3	100002647	Frame_Shift_Ins	INS	-	TCGA-32-2632-01A-01D-1495-08	41146644	100002647	98019783	22	16320											
KIAA1524	57650	broad.mit.edu	37	chr3	108279495	108279495	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgctattttttcactcaCcaccattccagactgaagtt	11	15	4	11	0	2	2	2	1	0	1	3	2	3	2	3	0	1	2	3	0	3	7			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:108279495C>T	ENST00000295746.8	-	14	1904		c.e14+1		KIAA1524_ENST00000491772.1_Splice_Site|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524						positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCACTCACCACCATTCCA	0.328																																						uc003dxb.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.e14+1		Homo sapiens KIAA1524 (KIAA1524), mRNA.							118	123	121					3																	108279495		2203	4300	6503	SO:0001630	splice_region_variant	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108279495C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1827+1G>A	3.37:g.108279495C>T							p.V609_splice	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			14	2096	-			609					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Splice_Site	SNP	ENST00000295746.8	37	c.1827_splice	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279354	0.80692	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1524	109762185	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.826000	0.69293	2.809000	0.96659	0.557000	0.71058	.		0.328	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	Intron	T	108279495	C	T	108279495	5	4	232	1	0	0	0	0	0	0	1	0	8239	521	18	3	921	3	KIAA1524	3	108279495	Splice_Site	SNP	C	TCGA-32-2632-01A-01D-1495-08	8276848	108279495	89742935	23	16321											
COL6A5	256076	broad.mit.edu	37	chr3	130174429	130174429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatttggtttaccttccaAgccaaatgtttgagccacaa	12	13	6	10	0	0	1	0	1	0	0	1	1	1	1	4	1	3	2	4	1	5	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:130174429A>T	ENST00000432398.2	+	37	7203	c.6709A>T	c.(6709-6711)Agc>Tgc	p.S2237C	COL6A5_ENST00000265379.6_Missense_Mutation_p.S2237C	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2237	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTACCTTCCAAGCCAAATGTT	0.358																																						uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6709-6711)Agc>Tgc		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.							63	61	62					3																	130174429		1810	4070	5880	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174429A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6709A>T	3.37:g.130174429A>T	ENSP00000390895:p.Ser2237Cys					COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S276C|COL6A5_uc010htk.1_Missense_Mutation_p.S276C	p.S2237C	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			36	7203	+			2237			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6709A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.04|11.04	1.521629|1.521629	0.27211|0.27211	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;T;T	.|0.90197	.|-2.54;-2.63;-1.02;-0.88	4.38|4.38	3.19|3.19	0.36642|0.36642	.|.	.|0.811537	.|0.10661	.|N	.|0.648783	D|D	0.90978|0.90978	0.7163|0.7163	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61697	.|0.983;0.99	.|P;P	.|0.53313	.|0.533;0.723	T|T	0.81200|0.81200	-0.1041|-0.1041	5|10	.|0.56958	.|D	.|0.05	.|.	7.2197|7.2197	0.25979|0.25979	0.8024:0.0:0.0:0.1976|0.8024:0.0:0.0:0.1976	.|.	.|2237;2237	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	M|C	488|2237;2237;180;72	.|ENSP00000390895:S2237C;ENSP00000265379:S2237C;ENSP00000362250:S180C;ENSP00000424968:S72C	.|ENSP00000265379:S2237C	K|S	+|+	2|1	0|0	COL6A5|COL6A5	131657119|131657119	0.032000|0.032000	0.19561|0.19561	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	2.564000|2.564000	0.45931|0.45931	0.792000|0.792000	0.33850|0.33850	-0.344000|-0.344000	0.07964|0.07964	AAG|AGC		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130174429	A	T	130174429	3	4	232	1	0	0	0	0	1	0	0	0	3702	72	3	5	6851	5	COL6A5	3	130174429	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	21894934	130174429	67848001	24	16322											
PRR23C	389152	broad.mit.edu	37	chr3	138762829	138762829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtcgaagatggggcGtggagagcgtctctctgaac	8	9	15	9	3	2	3	0	1	2	2	5	5	3	3	1	4	2	0	1	4	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:138762829G>A	ENST00000413199.1	-	1	905	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	PRR23C_ENST00000502927.2_Missense_Mutation_p.R212C|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	212	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AAGATGGGGCGTGGAGAGCGT	0.647																																						uc011bmt.1																			0				breast(2)|lung(7)|skin(2)	11						c.(634-636)Cgc>Tgc		Homo sapiens proline rich 23C (PRR23C), mRNA.							50	56	54					3																	138762829		692	1591	2283	SO:0001583	missense	389152							g.chr3:138762829G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.634C>T	3.37:g.138762829G>A	ENSP00000396648:p.Arg212Cys						p.R212C	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			0	906	-			212			Pro-rich.			Missense_Mutation	SNP	ENST00000413199.1	37	c.634C>T	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	0.461	-0.889066	0.02511	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.3	-6.61	0.01818	.	4.998830	0.00166	N	0.000006	T	0.34803	0.0910	L	0.59436	1.845	0.09310	N	1	P	0.39116	0.66	B	0.34242	0.178	T	0.44190	-0.9344	9	0.37606	T	0.19	.	6.1979	0.20559	0.0797:0.1005:0.4735:0.3463	.	212	Q6ZRP0	PR23C_HUMAN	C	212	.	ENSP00000396648:R212C	R	-	1	0	PRR23C	140245519	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.083000	0.00612	-5.168000	0.00020	-2.157000	0.00329	CGC		0.647	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		A	138762829	G	A	138762829	3	1	232	1	0	0	0	0	1	0	0	0	12596	1145	40	1	158	1	PRR23C	3	138762829	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	8588400	138762829	59259601	25	16323											
LEKR1	389170	broad.mit.edu	37	chr3	156763371	156763371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaattcccaacctgcgCggggtgtcaaaacccaccac	12	6	7	16	2	1	0	1	0	0	0	3	0	3	0	5	2	3	0	5	2	4	1	rs144318565		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:156763371C>T	ENST00000470811.1	+	14	2334	c.999C>T	c.(997-999)cgC>cgT	p.R333R	LEKR1_ENST00000356539.4_Silent_p.R637R			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	333										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552																																						uc021xgh.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(1909-1911)cgC>cgT		Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.							79	87	84					3																	156763371		2203	4300	6503	SO:0001819	synonymous_variant	389170							g.chr3:156763371C>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.999C>T	3.37:g.156763371C>T						LEKR1_uc003fba.1_Non-coding_Transcript	p.R637R	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		12	2025	+			0						Silent	SNP	ENST00000470811.1	37	c.1911C>T																																																																																					0.552	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		T	156763371	C	T	156763371	2	4	232	1	0	0	0	0	0	0	0	1	8717	755	27	1		1	LEKR1	3	156763371	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	18000542	156763371	41259059	26	16324											
C4orf23	152992	broad.mit.edu	37	chr4	8472818	8472818	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtttttccacagagagcctAtctctggcagaagtagccaa	11	10	9	11	1	1	2	0	0	1	2	3	3	2	2	3	1	2	3	3	1	4	4	rs533799281		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8472818A>G	ENST00000389737.4	+	10	1935	c.1935A>G	c.(1933-1935)ctA>ctG	p.L645L		NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	645					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CAGAGAGCCTATCTCTGGCAG	0.532																																						uc003glg.2																			0				kidney(1)|lung(6)|ovary(3)|prostate(1)	11						c.(1933-1935)ctA>ctG		Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.							122	140	134					4																	8472818		2203	4300	6503	SO:0001819	synonymous_variant	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8472818A>G	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1935A>G	4.37:g.8472818A>G						METTL19_uc003glh.1_Silent_p.L253L|METTL19_uc003gli.1_5'Flank	p.L645L	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			9	1953	+			645					Q8NA95	Silent	SNP	ENST00000389737.4	37	c.1935A>G	CCDS3402.2																																																																																				0.532	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		G	8472818	A	G	8472818	2	3	232	1	0	0	0	0	0	0	0	1	2256	436	16	4		4	C4orf23	4	8472818	Silent	SNP	A	TCGA-32-2632-01A-01D-1495-08		8472818	182681458	27	16325											
GPR78	27201	broad.mit.edu	37	chr4	8588808	8588808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcgtgcccttcgtcacCgtgaacgcccagtggggcat	6	8	13	14	4	1	1	1	1	0	0	3	2	1	1	3	2	3	2	3	2	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8588808C>T	ENST00000382487.4	+	3	1227	c.810C>T	c.(808-810)acC>acT	p.T270T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	270					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCGTCACCGTGAACGCCC	0.662																																						uc003glk.3																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(808-810)acC>acT		Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.							39	39	39					4																	8588808		2203	4300	6503	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588808C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.810C>T	4.37:g.8588808C>T						GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	p.T270T	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			2	1303	+			270					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.810C>T	CCDS3403.1																																																																																				0.662	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			T	8588808	C	T	8588808	2	4	232	1	0	0	0	0	0	0	0	1	6710	639	23	2		2	GPR78	4	8588808	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	115990	8588808	182565468	28	16326											
CENPE	1062	broad.mit.edu	37	chr4	104044141	104044141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaatgtttggtagttttTaaatagtttttcatttttct	8	24	5	4	0	3	0	2	0	1	0	3	0	3	0	0	1	0	4	0	1	5	11			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:104044141T>C	ENST00000265148.3	-	43	7119	c.7030A>G	c.(7030-7032)Aaa>Gaa	p.K2344E	CENPE_ENST00000380026.3_Missense_Mutation_p.K2223E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2344	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTAGTTTTTAAATAGTTTT	0.378																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7030-7032)Aaa>Gaa		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							204	210	208					4																	104044141		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104044141T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7030A>G	4.37:g.104044141T>C	ENSP00000265148:p.Lys2344Glu					CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	p.K2344E	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	42	7120	-			2344			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7030A>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081325	0.55753	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70045	-0.45;-0.45	4.71	2.1	0.27182	.	.	.	.	.	T	0.59582	0.2204	L	0.27053	0.805	0.09310	N	1	B;D	0.55172	0.008;0.97	B;P	0.51833	0.007;0.681	T	0.49466	-0.8937	9	0.56958	D	0.05	.	6.6795	0.23113	0.0:0.2012:0.0:0.7988	.	2223;2344	Q02224-3;Q02224	.;CENPE_HUMAN	E	2344;2308;2223	ENSP00000265148:K2344E;ENSP00000369365:K2223E	ENSP00000265148:K2344E	K	-	1	0	CENPE	104263590	0.005000	0.15991	0.001000	0.08648	0.704000	0.40688	-0.126000	0.10563	0.145000	0.18977	0.260000	0.18958	AAA		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104044141	T	C	104044141	3	2	232	1	0	0	0	0	1	0	0	0	3230	1763	61	4	1103	4	CENPE	4	104044141	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	95455333	104044141	87110135	29	16327											
ING2	3622	broad.mit.edu	37	chr4	184431464	184431464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaattgatgatgtctacGaaaaatataagaaagaagat	21	9	9	2	1	1	5	0	2	1	3	1	7	1	6	0	1	1	0	0	1	8	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:184431464G>A	ENST00000302327.3	+	2	404	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ING2_ENST00000434682.2_Missense_Mutation_p.E28K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	68					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.E68K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGTCTACGAAAAATATAA	0.318																																						uc003ivs.1																			1	Substitution - Missense(1)	p.E68K(2)|p.Y67C(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(202-204)Gaa>Aaa		Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.							84	99	94					4																	184431464		2192	4293	6485	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431464G>A	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.202G>A	4.37:g.184431464G>A	ENSP00000307183:p.Glu68Lys					ING2_uc011ckk.1_Missense_Mutation_p.E28K	p.E68K	NM_001564	NP_001555	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	331	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	68					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.202G>A	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545290	0.65198	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.54	5.54	0.83059	Double Clp-N motif (1);Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.989	T	0.80301	-0.1440	9	0.21540	T	0.41	-17.2433	19.6745	0.95926	0.0:0.0:1.0:0.0	.	28;68	B6ZDS1;Q9H160	.;ING2_HUMAN	K	68;28;28	.	ENSP00000307183:E68K	E	+	1	0	ING2	184668458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.222000	0.95196	2.880000	0.98712	0.650000	0.86243	GAA		0.318	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		A	184431464	G	A	184431464	3	1	232	1	0	0	0	0	1	0	0	0	7736	1059	37	2	208	2	ING2	4	184431464	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	80387323	184431464	6722812	30	16328											
SLC6A18	348932	broad.mit.edu	37	chr5	1244741	1244741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttctgcgatgacattgcGtggatgaccgggaggcggcc	7	8	17	9	4	1	2	0	2	1	0	1	5	1	4	2	5	2	1	2	5	0	2	rs202091732		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:1244741G>A	ENST00000324642.3	+	11	1638	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	505					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGACATTGCGTGGATGACCG	0.612																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1513-1515)gcG>gcA		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							54	56	55					5																	1244741		2202	4300	6502	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244741G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1515G>A	5.37:g.1244741G>A							p.A505A	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1638	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		505						Silent	SNP	ENST00000324642.3	37	c.1515G>A	CCDS3860.1																																																																																				0.612	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		A	1244741	G	A	1244741	2	1	232	1	0	0	0	0	0	0	0	1	14681	1132	40	1		1	SLC6A18	5	1244741	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		1244741	179670519	31	16329											
BASP1	10409	broad.mit.edu	37	chr5	17275800	17275800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcccgcagctcctgccGcccaggagaccaaaagtgac	10	3	12	16	3	0	2	0	1	0	1	1	3	1	2	5	2	2	2	5	2	2	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:17275800G>A	ENST00000322611.3	+	2	735	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	159					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGCTCCTGCCGCCCAGGAGAC	0.711																																						uc003jfx.3																			0				endometrium(1)|lung(8)	9						c.(475-477)Gcc>Acc		Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.							5	7	6					5																	17275800		2069	4124	6193	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275800G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.475G>A	5.37:g.17275800G>A	ENSP00000319281:p.Ala159Thr					BASP1_uc021xws.1_Missense_Mutation_p.A159T	p.A159T	NM_006317	NP_006308	P80723	BASP1_HUMAN			1	654	+			159					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.475G>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773991	0.31411	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.52754	0.65	4.18	0.0769	0.14405	.	0.553031	0.14689	N	0.304246	T	0.28863	0.0716	L	0.34521	1.04	0.09310	N	1	B	0.20671	0.047	B	0.11329	0.006	T	0.19321	-1.0309	10	0.54805	T	0.06	-0.686	1.527	0.02527	0.2608:0.1398:0.4565:0.143	.	159	P80723	BASP1_HUMAN	T	159;105	ENSP00000319281:A159T	ENSP00000319281:A159T	A	+	1	0	BASP1	17328800	1.000000	0.71417	0.128000	0.21923	0.994000	0.84299	0.996000	0.29719	-0.052000	0.13311	0.491000	0.48974	GCC		0.711	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			A	17275800	G	A	17275800	3	1	232	1	0	0	0	0	1	0	0	0	1317	1087	38	1	477	1	BASP1	5	17275800	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16031059	17275800	163639460	32	16330											
DDX4	54514	broad.mit.edu	37	chr5	55083676	55083676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacttaacttctaggcGgcttttctcctaccaatttt	10	15	5	11	1	2	0	0	0	2	0	3	0	2	0	2	2	4	2	2	2	6	8			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:55083676G>A	ENST00000505374.1	+	15	1112	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DDX4_ENST00000511853.1_Silent_p.A191A|DDX4_ENST00000514278.2_Silent_p.A320A|DDX4_ENST00000353507.5_Silent_p.A306A|DDX4_ENST00000354991.5_Silent_p.A306A	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	340	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCTAGGCGGCTTTTCTCC	0.383																																						uc003jqg.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1018-1020)gcG>gcA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.							99	101	100					5																	55083676		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083676G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1020G>A	5.37:g.55083676G>A						DDX4_uc010ivz.3_Silent_p.A320A|DDX4_uc003jqh.4_Silent_p.A306A|DDX4_uc003jqj.3_Silent_p.A191A	p.A340A	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN			14	1119	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	340			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1020G>A	CCDS3969.1																																																																																				0.383	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55083676	G	A	55083676	2	1	232	1	0	0	0	0	0	0	0	1	4360	1103	39	2		2	DDX4	5	55083676	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	37807876	55083676	125831584	33	16331											
DMGDH	29958	broad.mit.edu	37	chr5	78340364	78340364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcattttacctacttcacGagcccaaaatccttaaacaa	16	11	2	12	1	2	0	2	0	0	0	3	1	3	0	3	0	4	0	3	0	8	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:78340364G>A	ENST00000255189.3	-	6	785	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	DMGDH_ENST00000380311.4_Missense_Mutation_p.R52C|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	253					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTACTTCACGAGCCCAAAAT	0.318																																						uc003kfs.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(757-759)Cgt>Tgt		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							67	61	63					5																	78340364		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340364G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.757C>T	5.37:g.78340364G>A	ENSP00000255189:p.Arg253Cys					DMGDH_uc011cte.1_Missense_Mutation_p.R103C|DMGDH_uc011ctf.1_Missense_Mutation_p.R52C|DMGDH_uc011ctg.1_Intron	p.R253C	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	5	763	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	253					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.757C>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857374	0.91433	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	D;D;D	0.82167	-1.58;-1.58;-1.58	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.050585	0.85682	D	0.000000	D	0.92743	0.7693	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.979;0.992;0.995	D	0.93721	0.7033	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	52;103;253	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	C	253;92;52;103	ENSP00000255189:R253C;ENSP00000430972:R92C;ENSP00000369667:R52C	ENSP00000255189:R253C	R	-	1	0	DMGDH	78376120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.700000	0.84556	2.641000	0.89580	0.650000	0.86243	CGT		0.318	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		A	78340364	G	A	78340364	3	1	232	1	0	0	0	0	1	0	0	0	4581	1058	37	2	1887	2	DMGDH	5	78340364	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	23256688	78340364	102574896	34	16332											
FAM81B	153643	broad.mit.edu	37	chr5	94749817	94749817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctttcgaaaagaggaaTcgctcgccaggaagttactg	12	9	12	8	3	0	1	0	0	0	1	3	4	0	3	1	3	1	3	1	3	5	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:94749817T>A	ENST00000283357.5	+	4	506	c.460T>A	c.(460-462)Tcg>Acg	p.S154T		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	154						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAAGAGGAATCGCTCGCCAG	0.478																																						uc003kla.1																			0		p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(460-462)Tcg>Acg		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							98	99	99					5																	94749817		1989	4168	6157	SO:0001583	missense	153643							g.chr5:94749817T>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.460T>A	5.37:g.94749817T>A	ENSP00000283357:p.Ser154Thr					FAM81B_uc010jbe.1_5'UTR	p.S154T	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	506	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	154						Missense_Mutation	SNP	ENST00000283357.5	37	c.460T>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	T	3.859	-0.030356	0.07543	.	.	ENSG00000153347	ENST00000283357	T	0.18338	2.22	5.53	0.0654	0.14356	.	0.642786	0.15384	N	0.265144	T	0.07818	0.0196	L	0.28344	0.845	0.09310	N	1	B	0.22800	0.075	B	0.19946	0.027	T	0.32508	-0.9904	10	0.14252	T	0.57	1.7557	1.1738	0.01831	0.2335:0.1461:0.1224:0.498	.	154	Q96LP2	FA81B_HUMAN	T	154	ENSP00000283357:S154T	ENSP00000283357:S154T	S	+	1	0	FAM81B	94775573	0.000000	0.05858	0.088000	0.20740	0.006000	0.05464	-0.273000	0.08548	0.371000	0.24564	0.528000	0.53228	TCG		0.478	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		A	94749817	T	A	94749817	3	1	232	1	0	0	0	0	1	0	0	0	5629	1435	50	5	474	5	FAM81B	5	94749817	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	16409453	94749817	86165443	35	16333											
RAPGEF6	51735	broad.mit.edu	37	chr5	130940379	130940379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagataagaataaatagtaTttaagtcctgtggaacagaa	19	10	9	3	0	0	3	0	0	0	3	1	5	1	4	1	1	1	1	1	1	10	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:130940379T>A	ENST00000509018.1	-	2	282	c.77A>T	c.(76-78)aAt>aTt	p.N26I	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.N26I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.N26I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.N26I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.N26I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.N76I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.N26I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	26					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAAATAGTATTTAAGTCCTG	0.318																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(76-78)aAt>aTt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.							42	42	42					5																	130940379		2200	4292	6492	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130940379T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.77A>T	5.37:g.130940379T>A	ENSP00000421684:p.Asn26Ile					RAPGEF6_uc003kvp.2_Missense_Mutation_p.N76I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.N26I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.N26I|RAPGEF6_uc010jdk.3_Missense_Mutation_p.N26I	p.N26I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	1	283	-			26					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.77A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241158	0.58995	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.18	5.18	0.71444	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.139919	0.47852	D	0.000205	T	0.23572	0.0570	L	0.44542	1.39	0.80722	D	1	P;P;D;P;D;P	0.54397	0.943;0.902;0.966;0.902;0.966;0.943	B;B;P;B;P;B	0.50708	0.445;0.445;0.648;0.445;0.648;0.445	T	0.00807	-1.1558	10	0.56958	D	0.05	.	12.8523	0.57864	0.0:0.0:0.0:1.0	.	26;26;26;76;26;26	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	I	26;26;26;26;26;26;26;76	ENSP00000421684:N26I;ENSP00000309298:N26I;ENSP00000426081:N26I;ENSP00000296859:N26I;ENSP00000311419:N26I;ENSP00000425389:N26I;ENSP00000426948:N76I	ENSP00000426948:N76I	N	-	2	0	RAPGEF6;FNIP1	130968278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.046000	0.71029	2.081000	0.62600	0.533000	0.62120	AAT		0.318	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		A	130940379	T	A	130940379	3	1	232	1	0	0	0	0	1	0	0	0	13048	1493	52	5	5322	5	RAPGEF6	5	130940379	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	36190562	130940379	49974881	36	16334											
FBXO38	81545	broad.mit.edu	37	chr5	147796556	147796556	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttggttttgccttaGggttgtgctcgagttggtct	2	20	14	5	1	1	0	0	0	1	0	2	1	1	0	1	3	2	5	1	3	1	7			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796556G>C	ENST00000340253.5	+	12	1575		c.e12-1		FBXO38_ENST00000513826.1_Splice_Site|FBXO38_ENST00000394370.3_Splice_Site|FBXO38_ENST00000296701.6_Splice_Site			Q6PIJ6	FBX38_HUMAN	F-box protein 38						cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCCTTAGGGTTGTGCTC	0.368																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.e12-1		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							134	118	123					5																	147796556		2203	4300	6503	SO:0001630	splice_region_variant	81545					cytoplasm|nucleus		g.chr5:147796556G>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1408-1G>C	5.37:g.147796556G>C						FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	p.G470_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1528	+			470					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Splice_Site	SNP	ENST00000340253.5	37	c.1408_splice		.	.	.	.	.	.	.	.	.	.	G	19.02	3.746397	0.69418	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5815	0.91172	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO38	147776749	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.406000	0.80017	2.809000	0.96659	0.467000	0.42956	.		0.368	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	Intron	C	147796556	G	C	147796556	5	2	232	1	0	0	0	0	0	0	1	0	5746	1014	35	5	1449	5	FBXO38	5	147796556	Splice_Site	SNP	G	TCGA-32-2632-01A-01D-1495-08	16856177	147796556	33118704	37	16335											
FBXO38	81545	broad.mit.edu	37	chr5	147796638	147796638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaccagaactccaacaatGacgataataatgcccagaat	18	6	6	11	1	0	3	0	1	0	2	1	4	1	3	3	0	4	1	3	0	7	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796638G>C	ENST00000340253.5	+	12	1657	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	FBXO38_ENST00000513826.1_Missense_Mutation_p.D497H|FBXO38_ENST00000394370.3_Missense_Mutation_p.D497H|FBXO38_ENST00000296701.6_Missense_Mutation_p.D497H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	497					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAACAATGACGATAATAA	0.453																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1489-1491)Gac>Cac		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							173	145	154					5																	147796638		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147796638G>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1489G>C	5.37:g.147796638G>C	ENSP00000342023:p.Asp497His					FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	p.D497H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1609	+			497					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.1489G>C		.	.	.	.	.	.	.	.	.	.	G	26.9	4.778104	0.90195	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.35605	1.3;1.33;1.3;1.33	5.52	5.52	0.82312	.	0.202350	0.50627	D	0.000102	T	0.47192	0.1432	L	0.27053	0.805	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.975;0.975	D;P;P	0.66979	0.948;0.826;0.826	T	0.39375	-0.9617	10	0.49607	T	0.09	-13.57	17.2875	0.87146	0.0:0.0:1.0:0.0	.	497;497;497	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	497	ENSP00000342023:D497H;ENSP00000296701:D497H;ENSP00000377895:D497H;ENSP00000426410:D497H	ENSP00000296701:D497H	D	+	1	0	FBXO38	147776831	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.229000	0.95273	2.753000	0.94483	0.467000	0.42956	GAC		0.453	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		C	147796638	G	C	147796638	3	2	232	1	0	0	0	0	1	0	0	0	5746	1290	45	5	1531	5	FBXO38	5	147796638	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	82	147796638	33118622	38	16336											
NIPAL4	348938	broad.mit.edu	37	chr5	156890242	156890242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatggcttctacatcggcCtgggcctggcattcctgtct	5	13	10	13	1	2	0	0	0	2	0	4	0	3	0	3	4	1	2	3	4	2	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:156890242C>G	ENST00000311946.7	+	2	480	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	NIPAL4_ENST00000435489.2_Missense_Mutation_p.L122V|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	122						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACATCGGCCTGGGCCTGGC	0.577																																						uc003lwx.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(364-366)Ctg>Gtg		Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.							70	72	71					5																	156890242		2012	4194	6206	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890242C>G	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.364C>G	5.37:g.156890242C>G	ENSP00000311687:p.Leu122Val					ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	p.L122V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			1	480	+			122					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.364C>G	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869204	0.32977	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90197	-2.63;-2.63	5.33	1.08	0.20341	.	0.210770	0.41396	N	0.000882	D	0.83677	0.5306	L	0.41492	1.28	0.38559	D	0.949653	B;B	0.25048	0.054;0.117	B;B	0.25884	0.058;0.064	T	0.75780	-0.3197	10	0.45353	T	0.12	-24.2713	7.4497	0.27231	0.0:0.5365:0.2505:0.213	.	122;122	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	V	122	ENSP00000406456:L122V;ENSP00000311687:L122V	ENSP00000311687:L122V	L	+	1	2	NIPAL4	156822820	0.007000	0.16637	0.927000	0.36925	0.978000	0.69477	0.180000	0.16860	0.221000	0.20879	0.561000	0.74099	CTG		0.577	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		G	156890242	C	G	156890242	3	3	232	1	0	0	0	0	1	0	0	0	10427	680	24	5	370	5	NIPAL4	5	156890242	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9093604	156890242	24025018	39	16337											
GABRA1	2554	broad.mit.edu	37	chr5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcagcaaaattgacCgactgtcaagaatagccttc	14	9	8	10	1	2	2	2	1	0	1	3	3	2	2	2	0	2	1	2	0	5	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:161324318C>T	ENST00000428797.2	+	11	1616	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_ENST00000420560.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.R421*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.R421*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.R421*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	421					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAAATTGACCGACTGTCAAG	0.443																																						uc010jiw.3																			0		p.D420Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1261-1263)Cga>Tga		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						151	150	150					5																	161324318		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324318C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1261C>T	5.37:g.161324318C>T	ENSP00000393097:p.Arg421*					GABRA1_uc010jix.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.R421*	p.R421*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1729	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	421					D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.1261C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	38	7.054540	0.98032	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.32	4.44	0.53790	.	0.062197	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6781	0.77344	0.1382:0.8618:0.0:0.0	.	.	.	.	X	421	.	ENSP00000023897:R421X	R	+	1	2	GABRA1	161256896	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.534000	0.45676	1.354000	0.45846	0.563000	0.77884	CGA		0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		T	161324318	C	T	161324318	4	4	232	1	0	0	0	0	0	1	0	0	6160	644	23	2	1295	2	GABRA1	5	161324318	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	4434076	161324318	19590942	40	16338											
MCHR2	84539	broad.mit.edu	37	chr6	100382322	100382322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccaagtatagcataaaAttaaaatatagcacaccaaa	20	9	3	9	0	1	0	0	0	1	0	2	0	1	0	2	0	2	3	2	0	10	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100382322A>G	ENST00000281806.2	-	5	973	c.659T>C	c.(658-660)aTt>aCt	p.I220T	MCHR2_ENST00000369212.2_Missense_Mutation_p.I220T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAGCATAAAATTAAAATATA	0.328																																						uc003pqh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(658-660)aTt>aCt		Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.							101	106	104					6																	100382322		2203	4299	6502	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382322A>G	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.659T>C	6.37:g.100382322A>G	ENSP00000281806:p.Ile220Thr					MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	p.I220T	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	974	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	220					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.659T>C	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697642	0.68386	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.56776	0.44;0.44;0.44	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.61350	0.2340	M	0.69523	2.12	0.45852	D	0.99871	D	0.54601	0.967	P	0.62014	0.897	T	0.67860	-0.5561	10	0.87932	D	0	.	13.7357	0.62815	1.0:0.0:0.0:0.0	.	220	Q969V1	MCHR2_HUMAN	T	220	ENSP00000403490:I220T;ENSP00000281806:I220T;ENSP00000358214:I220T	ENSP00000281806:I220T	I	-	2	0	MCHR2	100489043	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.579000	0.53900	1.931000	0.55961	0.533000	0.62120	ATT		0.328	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		G	100382322	A	G	100382322	3	3	232	1	0	0	0	0	1	0	0	0	9383	101	4	4	371	4	MCHR2	6	100382322	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08		100382322	70732745	41	16339											
MCHR2	84539	broad.mit.edu	37	chr6	100395726	100395726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgcagagaggcccccCaaacacccactctccccctc	9	5	8	19	0	1	1	0	0	1	1	3	3	1	1	6	2	2	1	6	2	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100395726C>A	ENST00000281806.2	-	3	618	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	MCHR2_ENST00000369212.2_Missense_Mutation_p.G102W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGGCCCCCCAAACACCCAC	0.488																																						uc003pqh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(304-306)Ggg>Tgg		Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.							118	121	120					6																	100395726		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395726C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.304G>T	6.37:g.100395726C>A	ENSP00000281806:p.Gly102Trp					MCHR2_uc003pqi.1_Missense_Mutation_p.G102W	p.G102W	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	619	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	102					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.304G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106110	0.56291	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.51325	0.71;0.71;0.71	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.73202	0.3557	H	0.95437	3.67	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.82604	-0.0375	10	0.87932	D	0	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	102	Q969V1	MCHR2_HUMAN	W	102	ENSP00000403490:G102W;ENSP00000281806:G102W;ENSP00000358214:G102W	ENSP00000281806:G102W	G	-	1	0	MCHR2	100502447	1.000000	0.71417	0.996000	0.52242	0.377000	0.30045	6.594000	0.74104	2.089000	0.63090	0.650000	0.86243	GGG		0.488	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		A	100395726	C	A	100395726	3	1	232	1	0	0	0	0	1	0	0	0	9383	594	21	5	734	5	MCHR2	6	100395726	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	13404	100395726	70719341	42	16340											
HDAC2	3066	broad.mit.edu	37	chr6	114265495	114265495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatctccactgtcttcatGaacagcatcttctggaatag	10	14	6	11	0	6	1	2	1	4	0	7	2	6	2	1	1	2	1	1	1	3	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:114265495G>C	ENST00000519065.1	-	11	1547	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	HDAC2_ENST00000398283.2_Missense_Mutation_p.H485D|HDAC2_ENST00000519108.1_Missense_Mutation_p.H361D|HDAC2_ENST00000368632.2_Missense_Mutation_p.H361D			Q92769	HDAC2_HUMAN	histone deacetylase 2	391					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CTGTCTTCATGAACAGCATCT	0.363																																						uc003pwd.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1171-1173)Cat>Gat		Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	Vorinostat(DB02546)						129	120	123					6																	114265495		1910	4143	6053	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114265495G>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1171C>G	6.37:g.114265495G>C	ENSP00000430432:p.His391Asp					HDAC2_uc003pwc.2_Missense_Mutation_p.H361D|HDAC2_uc003pwe.2_Missense_Mutation_p.H361D	p.H391D	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	10	1458	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	391					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1171C>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147074	0.37923	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.72942	-0.68;-0.7;-0.68;-0.68	6.07	6.07	0.98685	.	0.078024	0.53938	D	0.000046	T	0.28599	0.0708	N	0.00670	-1.27	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31998	-0.9923	10	0.25751	T	0.34	-37.0655	20.6439	0.99570	0.0:0.0:1.0:0.0	.	361;391	B3KRS5;Q92769	.;HDAC2_HUMAN	D	391;485;361;361	ENSP00000430432:H391D;ENSP00000381331:H485D;ENSP00000430008:H361D;ENSP00000357621:H361D	ENSP00000357621:H361D	H	-	1	0	HDAC2	114372188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.884000	0.98904	0.655000	0.94253	CAT		0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			C	114265495	G	C	114265495	3	2	232	1	0	0	0	0	1	0	0	0	7007	1290	45	5	311	5	HDAC2	6	114265495	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	13869769	114265495	56849572	43	16341											
MAP7	9053	broad.mit.edu	37	chr6	136682257	136682257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagcctgcgcgactcCtcctcacggcgagtcgtcct	4	9	10	18	5	1	0	1	0	0	0	6	2	5	0	5	1	2	1	5	1	0	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:136682257C>T	ENST00000354570.3	-	12	1997	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	MAP7_ENST00000438100.2_Silent_p.E514E|MAP7_ENST00000454590.1_Silent_p.E551E|MAP7_ENST00000544465.1_Silent_p.E514E|MAP7_ENST00000432797.2_Silent_p.E383E	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	529					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCGCGACTCCTCCTCACGGC	0.617																																						uc011edg.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1675-1677)gaG>gaA		Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.							21	24	23					6																	136682257		2200	4290	6490	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136682257C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1587G>A	6.37:g.136682257C>T						MAP7_uc011edf.2_Silent_p.E514E|MAP7_uc010kgu.3_Silent_p.E551E|MAP7_uc011edh.2_Silent_p.E514E|MAP7_uc010kgv.3_Silent_p.E551E|MAP7_uc010kgs.3_Silent_p.E383E|MAP7_uc011edi.2_Silent_p.E383E|MAP7_uc010kgq.2_Silent_p.E435E|MAP7_uc003qgz.3_Silent_p.E529E|MAP7_uc003qha.2_Silent_p.E492E	p.E559E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	11	1926	-	Colorectal(23;0.24)		529					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1677G>A	CCDS5178.1																																																																																				0.617	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		T	136682257	C	T	136682257	2	4	232	1	0	0	0	0	0	0	0	1	9266	680	24	3		3	MAP7	6	136682257	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	22416762	136682257	34432810	44	16342											
KIAA0415	9907	broad.mit.edu	37	chr7	4820908	4820908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgactccctgcagaggctCttcctcatcatctcagccac	7	10	6	18	1	4	1	3	0	2	1	8	2	6	1	3	1	2	2	3	1	0	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:4820908C>T	ENST00000348624.4	+	2	238	c.144C>T	c.(142-144)ctC>ctT	p.L48L	AP5Z1_ENST00000401897.1_Silent_p.L48L	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	48					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGCAGAGGCTCTTCCTCATCA	0.632																																						uc003sne.3																			0											c.(142-144)ctC>ctT		Homo sapiens KIAA0415 (KIAA0415), mRNA.							44	50	48					7																	4820908		2087	4234	6321	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4820908C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.144C>T	7.37:g.4820908C>T						AP5Z1_uc010ksp.3_Non-coding_Transcript	p.L48L	NM_014855	NP_055670	O43299	K0415_HUMAN			1	229	+			48					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.144C>T	CCDS47528.1																																																																																				0.632	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			T	4820908	C	T	4820908	2	4	232	1	0	0	0	0	0	0	0	1	8175	900	32	3		3	KIAA0415	7	4820908	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08		4820908	154317755	45	16343											
ABCB5	340273	broad.mit.edu	37	chr7	20744386	20744386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaaaacagcacaggaGgcttgacaacaatattagcc	19	5	9	8	0	0	1	0	1	0	0	0	3	0	3	1	3	4	2	1	3	8	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:20744386G>A	ENST00000404938.2	+	20	3029	c.2377G>A	c.(2377-2379)Ggc>Agc	p.G793S	ABCB5_ENST00000258738.6_Missense_Mutation_p.G348S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	793	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGCACAGGAGGCTTGACAAC	0.328																																						uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2377-2379)Ggc>Agc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.							147	139	141					7																	20744386		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20744386G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2377G>A	7.37:g.20744386G>A	ENSP00000384881:p.Gly793Ser					ABCB5_uc003suw.4_Missense_Mutation_p.G348S	p.G793S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN			19	2614	+			348			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2377G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	7.151	0.583708	0.13749	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.79247	-1.25;-1.25	4.66	2.78	0.32641	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.466873	0.18339	N	0.144225	T	0.46619	0.1402	N	0.00554	-1.385	0.21675	N	0.999599	B;B	0.09022	0.0;0.002	B;B	0.12156	0.007;0.007	T	0.48896	-0.8994	10	0.62326	D	0.03	.	10.1716	0.42913	0.0817:0.0:0.7816:0.1367	.	793;348	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	S	793;348	ENSP00000384881:G793S;ENSP00000258738:G348S	ENSP00000258738:G348S	G	+	1	0	ABCB5	20710911	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	2.348000	0.44045	0.270000	0.21984	-1.598000	0.00824	GGC		0.328	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20744386	G	A	20744386	3	1	232	1	0	0	0	0	1	0	0	0	44	1000	35	3	2492	3	ABCB5	7	20744386	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	15923478	20744386	138394277	46	16344											
CHN2	1124	broad.mit.edu	37	chr7	29539600	29539600	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacacttgtgaaggctcAcaacactcagagacccatgg	14	6	8	13	0	2	2	2	1	0	1	2	3	2	2	1	2	2	1	1	2	3	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:29539600A>C	ENST00000222792.6	+	9	1387	c.857A>C	c.(856-858)cAc>cCc	p.H286P	CHN2_ENST00000546235.1_Missense_Mutation_p.H271P|CHN2_ENST00000495789.2_Missense_Mutation_p.H299P|CHN2_ENST00000539406.1_Missense_Mutation_p.H361P|CHN2_ENST00000409041.4_Missense_Mutation_p.H150P|CHN2_ENST00000439711.2_Missense_Mutation_p.H150P|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.H105P|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539389.1_Missense_Mutation_p.H142P|CHN2_ENST00000435288.2_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	286	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGAAGGCTCACAACACTCAG	0.413																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(856-858)cAc>cCc		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							97	85	89					7																	29539600		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539600A>C	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.857A>C	7.37:g.29539600A>C	ENSP00000222792:p.His286Pro					CHN2_uc011jzs.2_Missense_Mutation_p.H361P|CHN2_uc010kva.3_Missense_Mutation_p.H56P|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.H251P|CHN2_uc011jzt.2_Missense_Mutation_p.H299P|CHN2_uc010kvd.3_Missense_Mutation_p.H142P|CHN2_uc011jzu.2_Missense_Mutation_p.H271P|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Missense_Mutation_p.H150P|CHN2_uc010kve.3_Missense_Mutation_p.H150P|CHN2_uc003taa.3_Missense_Mutation_p.H150P|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Missense_Mutation_p.H150P|CHN2_uc010kvj.3_Missense_Mutation_p.H105P|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.H105P|CHN2_uc011jzv.2_Missense_Mutation_p.H79P	p.H286P	NM_004067	NP_004058	P52757	CHIO_HUMAN			8	1294	+			286			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.857A>C	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369511	0.82463	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711	T;T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.61	5.61	0.85477	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.76838	2.35	0.80722	D	1	D;B;D;D;D;D;D;B;D;D;D;D;D;D	0.71674	0.994;0.26;0.992;0.998;0.994;0.993;0.998;0.382;0.994;0.996;0.971;0.966;0.994;0.971	P;B;D;D;D;P;D;B;P;P;P;P;D;P	0.79108	0.898;0.064;0.971;0.992;0.917;0.904;0.991;0.133;0.898;0.864;0.896;0.703;0.917;0.896	T	0.10064	-1.0646	10	0.72032	D	0.01	.	15.758	0.78051	1.0:0.0:0.0:0.0	.	79;271;299;361;105;105;150;150;150;142;286;56;150;286	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF7;B3VCF6;B3VCG1;A4D1A2;B3VCF8;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	P	361;286;299;142;271;111;150;105;150	ENSP00000444063:H361P;ENSP00000222792:H286P;ENSP00000438587:H299P;ENSP00000440526:H142P;ENSP00000442812:H271P;ENSP00000396867:H111P;ENSP00000386849:H150P;ENSP00000406337:H105P;ENSP00000387425:H150P	ENSP00000222792:H286P	H	+	2	0	CHN2	29506125	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.251000	0.95483	2.263000	0.75096	0.379000	0.24179	CAC		0.413	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		C	29539600	A	C	29539600	3	2	232	1	0	0	0	0	1	0	0	0	3363	159	6	5	1059	5	CHN2	7	29539600	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	8795214	29539600	129599063	47	16345											
CCDC129	223075	broad.mit.edu	37	chr7	31682400	31682400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactgtcagctagagtcGgatgggccagattccaaaag	12	7	13	9	1	1	2	1	0	0	2	3	4	2	4	2	3	1	1	2	3	3	2	rs146986060		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:31682400G>A	ENST00000407970.3	+	11	1454	c.1416G>A	c.(1414-1416)tcG>tcA	p.S472S	CCDC129_ENST00000451887.2_Silent_p.S498S|CCDC129_ENST00000409210.1_Silent_p.S380S|CCDC129_ENST00000319386.3_Silent_p.S324S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	472										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCTAGAGTCGGATGGGCCAG	0.502																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1492-1494)tcG>tcA		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							91	90	90					7																	31682400		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682400G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1416G>A	7.37:g.31682400G>A						CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tcj.1_Silent_p.S472S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc003tck.1_Silent_p.S380S	p.S498S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			10	1506	+			472					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1494G>A	CCDS5435.2																																																																																				0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31682400	G	A	31682400	2	1	232	1	0	0	0	0	0	0	0	1	2764	1103	39	2		2	CCDC129	7	31682400	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	2142800	31682400	127456263	48	16346											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.V30_R297>G(5)|p.L62R(5)	lung(2)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(184-186)cTt>cGt		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175	167	170					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	p.L62R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		1	431	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55210075	T	G	55210075	3	3	232	1	0	0	0	0	1	0	0	0	4967	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	23527675	55210075	103928588	49	16347											
CALN1	83698	broad.mit.edu	37	chr7	71275350	71275350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctgtttggcagttccccGaggtctcattcaggctctct	5	14	9	13	1	4	0	2	0	3	0	7	1	5	0	2	3	0	4	2	3	0	3	rs143545775		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:71275350G>A	ENST00000329008.5	-	5	801	c.503C>T	c.(502-504)tCg>tTg	p.S168L	CALN1_ENST00000395276.2_Missense_Mutation_p.S168L|CALN1_ENST00000412588.1_Missense_Mutation_p.S210L|CALN1_ENST00000395275.2_Missense_Mutation_p.S210L|CALN1_ENST00000405452.2_Missense_Mutation_p.S168L|CALN1_ENST00000431984.1_Missense_Mutation_p.S168L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.S168L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCAGTTCCCCGAGGTCTCATT	0.507													G|||	1	0.000199681	0	0	5008	,	,		19794	0		0.001	False		,,,				2504	0					uc003twb.4																			1	Substitution - Missense(1)	p.S168L(1)	skin(1)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(628-630)tCg>tTg		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	205	166	179		629,503	5.1	1	7	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_031468.3,NM_001017440.2	145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	210/262,168/220	71275350	2,13004	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71275350G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.503C>T	7.37:g.71275350G>A	ENSP00000332498:p.Ser168Leu					CALN1_uc003twa.4_Missense_Mutation_p.S168L|CALN1_uc003twc.4_Missense_Mutation_p.S168L	p.S210L	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			5	1020	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	168					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.629C>T	CCDS5541.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.1	4.094103	0.76870	2.27E-4	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.70631	-0.4;-0.5;-0.4;-0.4;-0.5;-0.4	5.1	5.1	0.69264	.	0.119720	0.64402	D	0.000017	T	0.54095	0.1837	N	0.14661	0.345	0.51767	D	0.999933	B;B	0.33120	0.398;0.398	B;B	0.22880	0.042;0.042	T	0.61232	-0.7104	10	0.87932	D	0	-40.2874	17.6921	0.88271	0.0:0.0:1.0:0.0	.	168;168	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	L	168;210;168;168;210;168	ENSP00000332498:S168L;ENSP00000378690:S210L;ENSP00000378691:S168L;ENSP00000410704:S168L;ENSP00000391882:S210L;ENSP00000384354:S168L	ENSP00000332498:S168L	S	-	2	0	CALN1	70913286	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.616000	0.83018	2.670000	0.90874	0.655000	0.94253	TCG		0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		A	71275350	G	A	71275350	3	1	232	1	0	0	0	0	1	0	0	0	2591	1059	37	2	164	2	CALN1	7	71275350	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16065275	71275350	87863313	50	16348											
PIK3CG	5294	broad.mit.edu	37	chr7	106508826	106508826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggattttgtgctgcgcGtctgtggccgggatgagtac	7	11	15	8	3	1	1	0	1	1	0	1	3	1	3	1	3	4	2	1	3	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106508826G>A	ENST00000359195.3	+	2	1130	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V274I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V274I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	274	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V274I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGCTGCGCGTCTGTGGCCG	0.542																																						uc003vdv.4																			1	Substitution - Missense(1)	p.V274I(2)	large_intestine(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(820-822)Gtc>Atc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							54	51	52					7																	106508826		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508826G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.820G>A	7.37:g.106508826G>A	ENSP00000352121:p.Val274Ile					PIK3CG_uc003vdu.3_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.3_Missense_Mutation_p.V274I	p.V274I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	905	+			274					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.820G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957818	0.53400	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.79749	-1.3;-1.3;-1.3	5.99	5.99	0.97316	Phosphoinositide 3-kinase, ras-binding (2);	0.053681	0.64402	D	0.000001	T	0.74921	0.3780	L	0.48642	1.525	0.80722	D	1	B	0.29909	0.261	B	0.28916	0.096	T	0.70368	-0.4891	10	0.30854	T	0.27	-35.1478	14.0585	0.64786	0.0769:0.0:0.9231:0.0	.	274	P48736	PK3CG_HUMAN	I	274	ENSP00000392258:V274I;ENSP00000419260:V274I;ENSP00000352121:V274I	ENSP00000352121:V274I	V	+	1	0	PIK3CG	106296062	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.694000	0.74587	2.840000	0.97914	0.655000	0.94253	GTC		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106508826	G	A	106508826	3	1	232	1	0	0	0	0	1	0	0	0	11916	1145	40	1	822	1	PIK3CG	7	106508826	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	35233476	106508826	52629837	51	16349											
PIK3CG	5294	broad.mit.edu	37	chr7	106509352	106509352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcaaggcctctgcagagtCccccagttctgagtccaagg	9	7	11	14	0	2	2	0	1	2	1	4	2	4	2	4	2	2	3	4	2	2	1	rs376675940		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106509352C>T	ENST00000359195.3	+	2	1656	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S449F|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S449F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	449	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTGCAGAGTCCCCCAGTTCT	0.517																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1345-1347)tCc>tTc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							66	69	68					7																	106509352		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509352C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1346C>T	7.37:g.106509352C>T	ENSP00000352121:p.Ser449Phe					PIK3CG_uc003vdu.3_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S449F	p.S449F	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	1431	+			449					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1346C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574626	0.03882	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71341	-0.56;-0.56;-0.56	4.98	3.09	0.35607	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.817886	0.11462	N	0.561642	T	0.66548	0.2800	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.60078	-0.7333	10	0.66056	D	0.02	-3.5556	11.0343	0.47791	0.0:0.7939:0.132:0.0741	.	449	P48736	PK3CG_HUMAN	F	449	ENSP00000392258:S449F;ENSP00000419260:S449F;ENSP00000352121:S449F	ENSP00000352121:S449F	S	+	2	0	PIK3CG	106296588	0.000000	0.05858	0.011000	0.14972	0.010000	0.07245	0.316000	0.19469	2.593000	0.87608	0.655000	0.94253	TCC		0.517	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106509352	C	T	106509352	3	4	232	1	0	0	0	0	1	0	0	0	11916	855	30	3	1348	3	PIK3CG	7	106509352	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	526	106509352	52629311	52	16350											
GCC1	79571	broad.mit.edu	37	chr7	127222169	127222169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatagtcagtatggctgtgaGagtctgctggcggcccaggg	7	9	17	8	1	2	1	1	1	1	1	2	3	2	1	1	4	1	3	1	4	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:127222169G>C	ENST00000321407.2	-	2	2651	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	743	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCTGTGAGAGTCTGCTGG	0.542																																						uc003vma.3																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2227-2229)Ctc>Gtc		Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.							196	193	194					7																	127222169		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222169G>C	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2227C>G	7.37:g.127222169G>C	ENSP00000318821:p.Leu743Val						p.L743V	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	2645	-			743			GRIP.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.2227C>G	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091836	0.76756	.	.	ENSG00000179562	ENST00000321407	T	0.17213	2.29	5.87	5.87	0.94306	GRIP (4);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01124	-1.1444	10	0.44086	T	0.13	-9.5481	18.0718	0.89410	0.0:0.0:1.0:0.0	.	743	Q96CN9	GCC1_HUMAN	V	743	ENSP00000318821:L743V	ENSP00000318821:L743V	L	-	1	0	GCC1	127009405	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.317000	0.79018	2.941000	0.99782	0.655000	0.94253	CTC		0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		C	127222169	G	C	127222169	3	2	232	1	0	0	0	0	1	0	0	0	6285	942	33	5	104	5	GCC1	7	127222169	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	20712817	127222169	31916494	53	16351											
MGAM	8972	broad.mit.edu	37	chr7	141736628	141736628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatttcctcccaggaccaGgatcctgcctcctttggagc	6	11	8	16	0	0	0	0	0	0	0	4	3	4	3	7	3	2	0	7	3	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:141736628G>T	ENST00000549489.2	+	18	2177	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	MGAM_ENST00000475668.2_Missense_Mutation_p.Q694H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCAGGACCAGGATCCTGCCT	0.483																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2080-2082)caG>caT		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						147	153	151					7																	141736628		2135	4244	6379	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736628G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2082G>T	7.37:g.141736628G>T	ENSP00000447378:p.Gln694His						p.Q694H	NM_004668	NP_004659	O43451	MGA_HUMAN			17	2136	+	Melanoma(164;0.0272)		694			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2082G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535688	0.64972	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92545	-3.06	5.81	4.93	0.64822	Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000107	D	0.95837	0.8645	M	0.87547	2.89	0.42561	D	0.993146	D	0.89917	1.0	D	0.79108	0.992	D	0.95944	0.8949	10	0.87932	D	0	.	9.5484	0.39295	0.0748:0.0:0.7835:0.1417	.	694	O43451	MGA_HUMAN	H	694;694;571	ENSP00000447378:Q694H	ENSP00000316431:Q571H	Q	+	3	2	MGAM	141383097	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	3.398000	0.52579	1.475000	0.48197	-0.157000	0.13467	CAG		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141736628	G	T	141736628	3	4	232	1	0	0	0	0	1	0	0	0	9541	991	35	5	2148	5	MGAM	7	141736628	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	14514459	141736628	17402035	54	16352											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825878	146825878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatcaactacaatggcGtcaacattactgatcttgcc	14	10	6	11	1	3	1	2	1	1	0	3	1	3	1	1	1	6	1	1	1	6	3	rs145832489	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:146825878G>A	ENST00000361727.3	+	7	1549	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	345	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V345I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTACAATGGCGTCAACATTAC	0.413										HNSCC(39;0.1)			A|||	3	0.000599042	0	0	5008	,	,		17325	0		0	False		,,,				2504	0.0031					uc003weu.2																			1	Substitution - Missense(1)	p.V345I(2)|p.G344G(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1033-1035)Gtc>Atc		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		A	ILE/VAL	1,4405	825.9+/-416.6	0,1,2202	114	116	115		1033	2.2	0.9	7	dbSNP_134	115	1,8599	818.9+/-406.8	0,1,4299	no	missense	CNTNAP2	NM_014141.5	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	345/1332	146825878	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825878G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1033G>A	7.37:g.146825878G>A	ENSP00000354778:p.Val345Ile	HNSCC(39;0.1)					p.V345I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1549	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	345			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1033G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292961	0.40594	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	D	0.88818	-2.43	5.84	2.18	0.27775	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.368900	0.25122	N	0.032963	T	0.76234	0.3959	N	0.12961	0.28	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.59915	-0.7364	10	0.19590	T	0.45	.	8.7851	0.34816	0.681:0.0:0.319:0.0	.	345	Q9UHC6	CNTP2_HUMAN	I	345	ENSP00000354778:V345I	ENSP00000354778:V345I	V	+	1	0	CNTNAP2	146456811	0.946000	0.32159	0.884000	0.34674	0.960000	0.62799	1.899000	0.39818	-0.075000	0.12798	-0.254000	0.11334	GTC		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146825878	G	A	146825878	3	1	232	1	0	0	0	0	1	0	0	0	3647	1145	40	1	1059	1	CNTNAP2	7	146825878	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5089250	146825878	12312785	55	16353											
SSPO	23145	broad.mit.edu	37	chr7	149517991	149517991	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaggatggtggctgcGtgccaattgggcactgtgac	7	9	17	8	1	0	1	0	1	0	0	0	3	0	3	1	5	3	3	1	5	1	1	rs368478065		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:149517991G>A	ENST00000378016.2	+	0	12334							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGTGGCTGCGTGCCAATTGG	0.667																																						uc010lpk.3																			0											c.(12325-12327)Gtg>Atg		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.		G		0,4260		0,0,2130	22	28	26		12348	4.5	0.8	7		26	1,8457		0,1,4228	no	coding-notMod3	SSPO	NM_198455.2		0,1,6358	AA,AG,GG		0.0118,0.0,0.0079			149517991	1,12717	2130	4229	6359			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149517991G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149517991G>A						SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	p.V4109M	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		86	12325	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4112					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.12325G>A																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149517991	G	A	149517991	1	1	232	0	1	0	0	0	0	0	0	0	15188	1145	40	1		1	SSPO	7	149517991	RNA	SNP	G	TCGA-32-2632-01A-01D-1495-08	2692113	149517991	9620672	56	16354											
DOCK5	80005	broad.mit.edu	37	chr8	25159899	25159899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtgccagattgtccGcgtgggccatatggagctga	6	11	14	10	2	0	2	0	1	0	1	1	3	1	3	4	2	2	1	4	2	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25159899G>A	ENST00000276440.7	+	10	949	c.905G>A	c.(904-906)cGc>cAc	p.R302H	DOCK5_ENST00000481100.1_Missense_Mutation_p.R302H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	302					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGATTGTCCGCGTGGGCCAT	0.572																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(904-906)cGc>cAc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							89	67	75					8																	25159899		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25159899G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.905G>A	8.37:g.25159899G>A	ENSP00000276440:p.Arg302His					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.3_Missense_Mutation_p.R302H	p.R302H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	9	1042	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	302					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.905G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	35	5.531378	0.96446	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.18338	2.22;2.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59994	-0.7349	10	0.87932	D	0	.	18.7828	0.91941	0.0:0.0:1.0:0.0	.	77;302	Q68DL4;Q9H7D0	.;DOCK5_HUMAN	H	302	ENSP00000429737:R302H;ENSP00000276440:R302H	ENSP00000276440:R302H	R	+	2	0	DOCK5	25215816	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.666000	0.98612	2.607000	0.88179	0.650000	0.86243	CGC		0.572	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25159899	G	A	25159899	3	1	232	1	0	0	0	0	1	0	0	0	4690	1087	38	1	943	1	DOCK5	8	25159899	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		25159899	121204123	57	16355											
DOCK5	80005	broad.mit.edu	37	chr8	25189802	25189802	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaattggcgttccaacTcccagaacattaaacacaac	15	10	5	11	1	0	1	0	0	0	1	2	1	2	1	2	1	4	2	2	1	7	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25189802T>A	ENST00000276440.7	+	19	1983	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	647					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCGTTCCAACTCCCAGAACAT	0.378																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1939-1941)Tcc>Acc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							137	125	129					8																	25189802		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25189802T>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1939T>A	8.37:g.25189802T>A	ENSP00000276440:p.Ser647Thr					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.3_Missense_Mutation_p.S217T|DOCK5_uc003xej.3_Non-coding_Transcript	p.S647T	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	18	2076	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	647			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1939T>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.573|6.573	0.474125|0.474125	0.12521|0.12521	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.20738	.|2.05	5.82|5.82	0.478|0.478	0.16789|0.16789	.|.	.|0.415325	.|0.27008	.|N	.|0.021390	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.12502|0.12502	0.225|0.225	0.30069|0.30069	N|N	0.810253|0.810253	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.001;0.002;0.001	T|T	0.19877|0.19877	-1.0292|-1.0292	5|10	.|0.25751	.|T	.|0.34	.|.	4.6167|4.6167	0.12430|0.12430	0.1116:0.064:0.3485:0.4758|0.1116:0.064:0.3485:0.4758	.|.	.|637;422;647	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	H|T	418|647	.|ENSP00000276440:S647T	.|ENSP00000276440:S647T	L|S	+|+	2|1	0|0	DOCK5|DOCK5	25245719|25245719	0.745000|0.745000	0.28261|0.28261	0.958000|0.958000	0.39756|0.39756	0.989000|0.989000	0.77384|0.77384	0.287000|0.287000	0.18920|0.18920	-0.129000|-0.129000	0.11620|0.11620	-0.321000|-0.321000	0.08615|0.08615	CTC|TCC		0.378	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25189802	T	A	25189802	3	1	232	1	0	0	0	0	1	0	0	0	4690	1551	54	5	2013	5	DOCK5	8	25189802	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	29903	25189802	121174220	58	16356											
DOCK5	80005	broad.mit.edu	37	chr8	25265580	25265580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccttagagaggagaacagCgagaaccggatcagcaagtt	14	6	12	9	2	1	3	1	0	0	3	2	7	2	4	2	2	4	2	2	2	4	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25265580C>T	ENST00000276440.7	+	49	5219	c.5175C>T	c.(5173-5175)agC>agT	p.S1725S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1725					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGAACAGCGAGAACCGGA	0.498																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5173-5175)agC>agT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							54	48	50					8																	25265580		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25265580C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5175C>T	8.37:g.25265580C>T						DOCK5_uc003xek.3_Intron|DOCK5_uc003xej.3_Non-coding_Transcript	p.S1725S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	48	5312	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1725					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.5175C>T	CCDS6047.1																																																																																				0.498	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25265580	C	T	25265580	2	4	232	1	0	0	0	0	0	0	0	1	4690	767	27	1		1	DOCK5	8	25265580	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	75778	25265580	121098442	59	16357											
PTK2B	2185	broad.mit.edu	37	chr8	27308400	27308400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagtggctcaggcaggaGgagaagtccctggtgagcac	10	6	15	10	0	1	2	1	1	0	1	2	4	2	3	2	5	2	3	2	5	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:27308400G>A	ENST00000397501.1	+	30	3283	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	PTK2B_ENST00000397497.4_Silent_p.E529E|PTK2B_ENST00000544172.1_Silent_p.E825E|PTK2B_ENST00000420218.2_Silent_p.E783E|PTK2B_ENST00000338238.4_Silent_p.E783E|PTK2B_ENST00000346049.5_Silent_p.E825E|PTK2B_ENST00000517339.1_Silent_p.E783E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	825	Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCAGGCAGGAGGAGAAGTCCC	0.607																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2473-2475)gaG>gaA		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							96	85	89					8																	27308400		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27308400G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2475G>A	8.37:g.27308400G>A						PTK2B_uc022ate.1_Silent_p.E825E|PTK2B_uc003xfp.2_Silent_p.E825E|PTK2B_uc003xfq.2_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	p.E825E	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	29	3283	+		Ovarian(32;2.72e-05)	825			Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2475G>A	CCDS6057.1																																																																																				0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		A	27308400	G	A	27308400	2	1	232	1	0	0	0	0	0	0	0	1	12763	991	35	3		3	PTK2B	8	27308400	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	2042820	27308400	119055622	60	16358											
ADAM32	203102	broad.mit.edu	37	chr8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaacaagtgccattgttCgccaggctataagcctccaa	13	8	8	12	1	0	1	0	0	0	1	2	1	1	1	4	1	3	2	4	1	5	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L|ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363																																						uc003xmt.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1933-1935)tCg>tTg		Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.							48	46	47					8																	39111964		1831	4079	5910	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39111964C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1934C>T	8.37:g.39111964C>T	ENSP00000369238:p.Ser645Leu					ADAM32_uc011lch.2_Missense_Mutation_p.S546L|ADAM32_uc003xmu.4_Missense_Mutation_p.S539L|ADAM32_uc003xmv.3_Missense_Mutation_p.S69L	p.S645L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		17	2179	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	645			EGF-like.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1934C>T	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	ADAM32	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG		0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		T	39111964	C	T	39111964	3	4	232	1	0	0	0	0	1	0	0	0	249	893	31	2	2004	2	ADAM32	8	39111964	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	11803564	39111964	107252058	61	16359											
JPH1	56704	broad.mit.edu	37	chr8	75227467	75227467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacatcgccaaagctgatCgtggagttggcatcgctgga	9	10	12	10	3	1	1	0	1	1	0	4	3	1	3	1	3	2	4	1	3	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:75227467C>T	ENST00000342232.4	-	2	808	c.768G>A	c.(766-768)acG>acA	p.T256T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	256	Ser-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAAAGCTGATCGTGGAGTTGG	0.557																																						uc003yae.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(766-768)acG>acA		Homo sapiens junctophilin 1 (JPH1), mRNA.							91	86	88					8																	75227467		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227467C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.768G>A	8.37:g.75227467C>T						JPH1_uc003yaf.3_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	p.T256T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	808	-	Breast(64;0.00576)		256			Ser-rich.		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.768G>A	CCDS6217.1																																																																																				0.557	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			T	75227467	C	T	75227467	2	4	232	1	0	0	0	0	0	0	0	1	7960	871	31	2		2	JPH1	8	75227467	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	36115503	75227467	71136555	62	16360											
TM7SF4	81501	broad.mit.edu	37	chr8	105361318	105361318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcttttcagtcccagcCatgtcctggaggcacagcta	7	12	8	14	0	3	0	1	0	2	0	6	1	5	1	3	2	2	2	3	2	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:105361318C>T	ENST00000297581.2	+	2	587	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.H180Y|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	180					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CAGTCCCAGCCATGTCCTGGA	0.507																																						uc003ylx.1																			0											c.(538-540)Cat>Tat		Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.							96	92	94					8																	105361318		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361318C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.538C>T	8.37:g.105361318C>T	ENSP00000297581:p.His180Tyr						p.H180Y	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN			1	587	+			180					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.538C>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	5.883	0.347046	0.11126	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.31510	1.49	5.53	2.68	0.31781	.	1.067540	0.07103	N	0.840827	T	0.22044	0.0531	L	0.36672	1.1	0.09310	N	1	B	0.28971	0.229	B	0.25759	0.063	T	0.27331	-1.0077	9	.	.	.	-0.4111	4.3527	0.11163	0.1154:0.3585:0.4327:0.0934	.	180	Q9H295	TM7S4_HUMAN	Y	180	ENSP00000297581:H180Y	.	H	+	1	0	TM7SF4	105430494	0.009000	0.17119	0.064000	0.19789	0.234000	0.25298	0.701000	0.25616	0.703000	0.31848	0.561000	0.74099	CAT		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		T	105361318	C	T	105361318	3	4	232	1	0	0	0	0	1	0	0	0	15973	594	21	3	540	3	TM7SF4	8	105361318	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	30133851	105361318	41002704	63	16361											
CNTNAP3	79937	broad.mit.edu	37	chr9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacccatgaaagcttttaCgtctgaatgcccgcgatctt	11	11	7	12	3	2	2	0	2	2	0	2	3	2	2	2	0	4	1	2	0	4	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:39176040C>T	ENST00000297668.6	-	7	1050	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R326H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R238H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R326H|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R326H|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	326	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAAGCTTTTACGTCTGAATGC	0.388																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(976-978)cGt>cAt		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.							68	75	73					9																	39176040		2200	4297	6497	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39176040C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.977G>A	9.37:g.39176040C>T	ENSP00000297668:p.Arg326His					CNTNAP3_uc004abj.3_Missense_Mutation_p.R326H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.R326H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R326H	p.R326H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	6	1216	-			326			Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.977G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	1.848	-0.465790	0.04476	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	3.0	-1.41	0.08941	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.53126	0.1777	N	0.12637	0.245	0.09310	N	1	B;B;B;B;B	0.19706	0.006;0.024;0.038;0.017;0.024	B;B;B;B;B	0.18263	0.01;0.021;0.014;0.01;0.014	T	0.38564	-0.9655	9	0.07175	T	0.84	.	8.2957	0.31984	0.0:0.4818:0.0:0.5182	.	326;326;326;326;326	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	H	326;326;238;326;326;238	ENSP00000297668:R326H;ENSP00000366884:R326H;ENSP00000350863:R238H;ENSP00000320728:R326H;ENSP00000366887:R326H	ENSP00000297668:R326H	R	-	2	0	CNTNAP3	39166040	0.000000	0.05858	0.073000	0.20177	0.104000	0.19210	-0.200000	0.09478	-0.421000	0.07416	0.460000	0.39030	CGT		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39176040	C	T	39176040	3	4	232	1	0	0	0	0	1	0	0	0	3648	536	19	1	2961	1	CNTNAP3	9	39176040	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		39176040	102037391	64	16362											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177155	70177155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtgccccggcatagaCgggggccgagagcagtaggt	7	6	17	11	4	0	2	0	0	0	2	1	3	0	2	3	5	2	3	3	5	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:70177155C>T	ENST00000377420.1	-	1	1660	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	277					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						CCGGCATAGACGGGGGCCGAG	0.687																																						uc010moc.3																			0				endometrium(5)|lung(2)	7						c.(829-831)Gtc>Atc		Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.							2	3	3					9																	70177155		498	1280	1778	SO:0001583	missense	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177155C>T		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.829G>A	9.37:g.70177155C>T	ENSP00000366637:p.Val277Ile						p.V277I	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			0	1661	-			277						Missense_Mutation	SNP	ENST00000377420.1	37	c.829G>A	CCDS47977.1	.	.	.	.	.	.	.	.	.	.	c	13.22	2.171371	0.38315	.	.	ENSG00000204779	ENST00000377420	D	0.93763	-3.28	1.07	1.07	0.20283	.	0.667620	0.11909	U	0.517821	D	0.83519	0.5272	N	0.08118	0	0.21290	N	0.999735	B	0.13145	0.007	B	0.04013	0.001	T	0.74312	-0.3706	10	0.54805	T	0.06	.	7.6881	0.28552	0.0:1.0:0.0:0.0	.	277	Q5VV16	FX4L5_HUMAN	I	277	ENSP00000366637:V277I	ENSP00000366637:V277I	V	-	1	0	FOXD4L5	69466975	0.070000	0.21116	0.278000	0.24718	0.166000	0.22503	1.251000	0.32862	0.534000	0.28695	0.074000	0.15403	GTC		0.687	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		T	70177155	C	T	70177155	3	4	232	1	0	0	0	0	1	0	0	0	6002	536	19	1	425	1	FOXD4L5	9	70177155	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	31001115	70177155	71036276	65	16363											
PAPPA	5069	broad.mit.edu	37	chr9	118949533	118949533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagacccacgctactttttCtccttgaagacagaccgagc	12	9	7	13	2	1	4	0	1	1	3	2	5	1	4	3	0	2	1	3	0	3	4	rs141909455		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:118949533C>G	ENST00000328252.3	+	2	885	c.516C>G	c.(514-516)ttC>ttG	p.F172L	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	172					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACTTTTTCTCCTTGAAGA	0.537																																						uc004bjn.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(514-516)ttC>ttG		Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.							83	81	82					9																	118949533		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949533C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.516C>G	9.37:g.118949533C>G	ENSP00000330658:p.Phe172Leu					PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	p.F172L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			1	897	+			172					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.516C>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283119	0.80803	.	.	ENSG00000182752	ENST00000328252	T	0.74947	-0.89	6.07	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	M	0.66378	2.025	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85306	0.1076	10	0.87932	D	0	-27.4794	12.0971	0.53761	0.0:0.8633:0.0:0.1367	.	172	Q13219	PAPP1_HUMAN	L	172	ENSP00000330658:F172L	ENSP00000330658:F172L	F	+	3	2	PAPPA	117989354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.309000	0.51903	1.570000	0.49709	0.655000	0.94253	TTC		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		G	118949533	C	G	118949533	3	3	232	1	0	0	0	0	1	0	0	0	11432	912	32	5	522	5	PAPPA	9	118949533	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	48772378	118949533	22263898	66	16364											
NUP214	8021	broad.mit.edu	37	chr9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatcaaaacaccagagCgactttcattagaaggagag	15	8	8	10	1	3	3	3	0	1	3	4	5	3	3	1	1	2	0	1	1	4	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:134016058C>T	ENST00000359428.5	+	11	1399	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1255-1257)Cga>Tga		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							113	110	111					9																	134016058		2203	4300	6503	SO:0001587	stop_gained	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134016058C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1255C>T	9.37:g.134016058C>T	ENSP00000352400:p.Arg419*					NUP214_uc004cah.3_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	p.R419*	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	10	1366	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	419					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Nonsense_Mutation	SNP	ENST00000359428.5	37	c.1255C>T	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.823364|4.823364	0.90873|0.90873	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000530863|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	.|.	.|.	.|.	5.91|5.91	4.99|4.99	0.66335|0.66335	.|.	.|0.896444	.|0.09179	.|N	.|0.837770	T|.	0.46073|.	0.1374|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40496|.	-0.9560|.	3|.	.|0.10377	.|T	.|0.69	-30.1883|-30.1883	15.0046|15.0046	0.71501|0.71501	0.154:0.846:0.0:0.0|0.154:0.846:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|419	.|.	.|ENSP00000352400:R419X	A|R	+|+	2|1	0|2	NUP214|NUP214	133005879|133005879	0.005000|0.005000	0.15991|0.15991	0.832000|0.832000	0.32986|0.32986	0.059000|0.059000	0.15707|0.15707	0.402000|0.402000	0.20965|0.20965	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.433	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		T	134016058	C	T	134016058	4	4	232	1	0	0	0	0	0	1	0	0	10762	760	27	1	1297	1	NUP214	9	134016058	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	15066525	134016058	7197373	67	16365											
ANO9	338440	broad.mit.edu	37	chr11	433453	433453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctgtttctggtcccGgatcacctgggggcacatgg	7	9	14	11	1	2	1	1	0	1	1	3	3	3	2	3	5	0	2	3	5	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:433453G>A	ENST00000332826.6	-	4	295	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	71					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCTGGTCCCGGATCACCTGG	0.612																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(211-213)Cgg>Tgg		Homo sapiens anoctamin 9 (ANO9), mRNA.							112	111	111					11																	433453		2203	4299	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:433453G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.211C>T	11.37:g.433453G>A	ENSP00000332788:p.Arg71Trp					ANO9_uc010qvv.1_5'UTR	p.R71W	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			3	296	-			71					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.211C>T	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	10.58	1.389033	0.25118	.	.	ENSG00000185101	ENST00000332826	T	0.68331	-0.32	3.31	-2.62	0.06152	.	.	.	.	.	T	0.42040	0.1185	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	B	0.40534	0.332	T	0.40701	-0.9549	9	0.72032	D	0.01	.	5.4201	0.16396	0.0:0.2196:0.4651:0.3153	.	71	A1A5B4	ANO9_HUMAN	W	71	ENSP00000332788:R71W	ENSP00000332788:R71W	R	-	1	2	ANO9	423453	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.599000	0.02085	-0.491000	0.06697	-0.857000	0.03018	CGG		0.612	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		A	433453	G	A	433453	3	1	232	1	0	0	0	0	1	0	0	0	704	1115	39	2	2217	2	ANO9	11	433453	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		433453	134573063	68	16366											
TTC17	55761	broad.mit.edu	37	chr11	43464880	43464880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccttgaatttcaggtacgGtggttgaggagagcaatggt	9	11	15	6	1	1	3	1	2	0	1	1	4	1	3	1	5	2	3	1	5	3	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:43464880G>A	ENST00000039989.4	+	17	2271	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.V810M	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	753					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCAGGTACGGTGGTTGAGGA	0.443																																						uc001mxi.3																			0		p.T752T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2257-2259)Gtg>Atg		Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.							105	101	103					11																	43464880		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43464880G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2257G>A	11.37:g.43464880G>A	ENSP00000039989:p.Val753Met					TTC17_uc001mxh.3_Missense_Mutation_p.V810M|TTC17_uc010rfj.2_Missense_Mutation_p.V753M|TTC17_uc001mxj.3_Missense_Mutation_p.V580M	p.V753M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			16	2327	+			753					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2257G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755642	0.69648	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.45276	0.9;1.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.32530	0.975	0.45662	D	0.998581	D;D;D	0.69078	0.995;0.961;0.997	P;P;P	0.62014	0.793;0.556;0.897	T	0.34204	-0.9838	10	0.31617	T	0.26	-16.4863	16.1142	0.81289	0.0:0.1336:0.8664:0.0	.	810;753;810	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	M	810;753	ENSP00000299240:V810M;ENSP00000039989:V753M	ENSP00000039989:V753M	V	+	1	0	TTC17	43421456	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.480000	0.73604	2.697000	0.92050	0.557000	0.71058	GTG		0.443	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43464880	G	A	43464880	3	1	232	1	0	0	0	0	1	0	0	0	16681	1261	44	3	2323	3	TTC17	11	43464880	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	43031427	43464880	91541636	69	16367											
OR4X1	390113	broad.mit.edu	37	chr11	48285739	48285739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttctttggtggcactgaGgcctttctcctgatggtgat	5	16	11	9	0	2	3	0	3	2	0	3	3	2	3	2	4	0	1	2	4	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:48285739G>A	ENST00000320048.1	+	1	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGCACTGAGGCCTTTCTCC	0.507																																						uc010rht.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(325-327)gaG>gaA		Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.							78	74	75					11																	48285739		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285739G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.327G>A	11.37:g.48285739G>A							p.E109E	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			0	327	+			109					Q6IF74	Silent	SNP	ENST00000320048.1	37	c.327G>A	CCDS31487.1																																																																																				0.507	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		A	48285739	G	A	48285739	2	1	232	1	0	0	0	0	0	0	0	1	11084	991	35	3		3	OR4X1	11	48285739	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	4820859	48285739	86720777	70	16368											
ACY3	91703	broad.mit.edu	37	chr11	67413173	67413173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccacctgcagatggCggcacaggtgcatggcaaag	9	4	16	12	2	0	1	0	0	0	1	0	1	0	1	3	6	2	4	3	6	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:67413173C>T	ENST00000255082.3	-	4	592	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ACY3_ENST00000529256.1_Missense_Mutation_p.R20H	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	141	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGCAGATGGCGGCACAGGTG	0.617																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(421-423)cGc>cAc		Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	L-Aspartic Acid(DB00128)						114	101	105					11																	67413173		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67413173C>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.422G>A	11.37:g.67413173C>T	ENSP00000255082:p.Arg141His						p.R141H	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			3	593	-			141						Missense_Mutation	SNP	ENST00000255082.3	37	c.422G>A	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	0.913	-0.718387	0.03182	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97870	-4.58;-4.58	4.48	-5.66	0.02451	.	0.424874	0.23997	N	0.042505	D	0.89396	0.6703	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.80023	-0.1556	10	0.39692	T	0.17	-15.2167	9.1102	0.36723	0.0:0.5231:0.1216:0.3553	.	141	Q96HD9	ACY3_HUMAN	H	141;20	ENSP00000255082:R141H;ENSP00000434270:R20H	ENSP00000255082:R141H	R	-	2	0	ACY3	67169749	0.014000	0.17966	0.011000	0.14972	0.474000	0.32979	-0.132000	0.10467	-1.158000	0.02811	-0.367000	0.07326	CGC		0.617	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		T	67413173	C	T	67413173	3	4	232	1	0	0	0	0	1	0	0	0	227	768	27	1	557	1	ACY3	11	67413173	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	19127434	67413173	67593343	71	16369											
RELT	84957	broad.mit.edu	37	chr11	73102204	73102204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggtggtttgggccttgGggggttccccgcgttccatg	2	11	17	11	3	0	0	0	0	0	0	2	0	2	0	4	6	0	4	4	6	0	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:73102204G>C	ENST00000064780.2	+	5	564	c.303G>C	c.(301-303)tgG>tgC	p.W101C	RELT_ENST00000393580.2_Missense_Mutation_p.W101C	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	101						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGGCCTTGGGGGGTTCCCC	0.587																																						uc001otv.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(301-303)tgG>tgC		Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.							151	138	142					11																	73102204		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73102204G>C	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.303G>C	11.37:g.73102204G>C	ENSP00000064780:p.Trp101Cys					RELT_uc001otw.3_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.3_5'Flank	p.W101C	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			4	468	+			101					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.303G>C	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937299	0.34189	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	T;T;T	0.80653	-0.86;-1.4;-0.86	5.28	-0.0453	0.13852	.	1.092350	0.06947	N	0.813881	T	0.62097	0.2400	N	0.19112	0.55	0.09310	N	1	B	0.30664	0.289	B	0.28305	0.088	T	0.52426	-0.8577	10	0.41790	T	0.15	2.9408	0.5003	0.00578	0.284:0.1864:0.3411:0.1885	.	101	Q969Z4	TR19L_HUMAN	C	101	ENSP00000064780:W101C;ENSP00000439352:W101C;ENSP00000377207:W101C	ENSP00000064780:W101C	W	+	3	0	RELT	72779852	0.001000	0.12720	0.008000	0.14137	0.380000	0.30137	0.026000	0.13599	0.154000	0.19237	0.655000	0.94253	TGG		0.587	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		C	73102204	G	C	73102204	3	2	232	1	0	0	0	0	1	0	0	0	13221	1241	43	5	317	5	RELT	11	73102204	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5689031	73102204	61904312	72	16370											
OR6M1	390261	broad.mit.edu	37	chr11	123676770	123676770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtagaaatatgtttggatCatgcaaccagcaaaagatat	18	10	8	5	0	1	2	1	0	0	2	1	3	1	3	1	1	3	4	1	1	8	4	rs368975645		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:123676770C>T	ENST00000309154.2	-	1	325	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATGTTTGGATCATGCAACCAG	0.458																																						uc010rzz.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(286-288)atG>atA		Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.		C	ILE/MET	0,4404		0,0,2202	80	76	78		288	-2.3	0	11		78	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR6M1	NM_001005325.1	10	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	96/314	123676770	1,13001	2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676770C>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.288G>A	11.37:g.123676770C>T	ENSP00000311038:p.Met96Ile						p.M96I	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	0	288	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	96					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.288G>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.242923	0.00022	0.0	1.16E-4	ENSG00000196099	ENST00000309154	T	0.00359	7.87	3.68	-2.26	0.06867	GPCR, rhodopsin-like superfamily (1);	0.506604	0.14502	N	0.315681	T	0.00073	0.0002	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.02654	T	1	.	0.6534	0.00830	0.1956:0.2938:0.2348:0.2758	.	96	Q8NGM8	OR6M1_HUMAN	I	96	ENSP00000311038:M96I	ENSP00000311038:M96I	M	-	3	0	OR6M1	123181980	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.427000	0.02441	-0.825000	0.04290	-0.867000	0.03001	ATG		0.458	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		T	123676770	C	T	123676770	3	4	232	1	0	0	0	0	1	0	0	0	11205	826	29	3	656	3	OR6M1	11	123676770	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	50574566	123676770	11329746	73	16371											
CNTN1	1272	broad.mit.edu	37	chr12	41333137	41333137	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatttgttttctttttagCgttggctccaacttttgaaa	9	19	6	7	1	1	1	0	1	1	0	2	1	2	1	1	1	2	3	1	1	4	9			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:41333137C>T	ENST00000551295.2	+	12	1346	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	CNTN1_ENST00000547849.1_Splice_Site_p.A410V|CNTN1_ENST00000347616.1_Splice_Site_p.A410V|CNTN1_ENST00000348761.2_Splice_Site_p.A399V|CNTN1_ENST00000360099.3_Splice_Site_p.A410V|CNTN1_ENST00000547702.1_Splice_Site_p.A410V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	410					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTTTTTAGCGTTGGCTCCA	0.348																																						uc001rmm.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.e12-1		Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.							55	56	56					12																	41333137		2203	4300	6503	SO:0001630	splice_region_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333137C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1229-1C>T	12.37:g.41333137C>T						CNTN1_uc009zjy.2_Splice_Site_p.A410_splice|CNTN1_uc001rmn.1_Splice_Site_p.A399_splice|CNTN1_uc001rmo.3_Splice_Site_p.A410_splice	p.A410_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			12	1342	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	410					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1229_splice	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516148	0.44763	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.64991	-0.13;0.25;-0.13;0.25;-0.13;0.23	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.80982	2.52	0.54753	D	0.999986	P;P;B	0.37466	0.596;0.544;0.409	B;B;B	0.23574	0.047;0.019;0.014	T	0.63528	-0.6617	9	.	.	.	.	13.3437	0.60559	0.0:0.9225:0.0:0.0775	.	410;399;410	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	V	410;410;410;410;410;399	ENSP00000448004:A410V;ENSP00000447006:A410V;ENSP00000448653:A410V;ENSP00000325660:A410V;ENSP00000353213:A410V;ENSP00000261160:A399V	.	A	+	2	0	CNTN1	39619404	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	3.570000	0.53834	2.648000	0.89879	0.561000	0.74099	GCG		0.348	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation	T	41333137	C	T	41333137	5	4	232	1	0	0	0	0	0	0	1	0	3640	782	27	1	1271	1	CNTN1	12	41333137	Splice_Site	SNP	C	TCGA-32-2632-01A-01D-1495-08		41333137	92518758	74	16372											
TRHDE	29953	broad.mit.edu	37	chr12	72771778	72771778	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatatttttaattaggtaCgattatatgcaagacctgat	14	17	6	4	1	0	2	0	1	0	1	0	3	0	2	1	1	2	2	1	1	9	10			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:72771778C>T	ENST00000261180.4	+	3	1153	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R353*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						taattaGGTACGATTATATGC	0.308																																						uc001sxa.3																			1	Substitution - Nonsense(1)	p.R353*(2)|p.R353Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1057-1059)Cga>Tga		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							30	31	31					12																	72771778		2203	4293	6496	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771778C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1057C>T	12.37:g.72771778C>T	ENSP00000261180:p.Arg353*						p.R353*	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	1087	+			353					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1057C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	38	6.833730	0.97873	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3917	0.66983	0.1477:0.8523:0.0:0.0	.	.	.	.	X	353	.	ENSP00000261180:R353X	R	+	1	2	TRHDE	71058045	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	4.342000	0.59341	2.645000	0.89757	0.585000	0.79938	CGA		0.308	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		T	72771778	C	T	72771778	4	4	232	1	0	0	0	0	0	1	0	0	16476	528	19	1	1067	1	TRHDE	12	72771778	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	31438641	72771778	61080117	75	16373											
TBX5	6910	broad.mit.edu	37	chr12	114793581	114793581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggccatgccagccagcCgagggaccaggggccccgag	7	3	17	14	2	0	0	0	0	0	0	0	3	0	1	7	5	3	1	7	5	0	1	rs557758851	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:114793581C>T	ENST00000310346.4	-	9	1979	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	TBX5_ENST00000405440.2_Missense_Mutation_p.R438Q|TBX5_ENST00000349716.5_Missense_Mutation_p.R388Q	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	438				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCAGCCAGCCGAGGGACCAG	0.657													C|||	3	0.000599042	0	0	5008	,	,		20667	0		0	False		,,,				2504	0.0031				NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1312-1314)cGg>cAg		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							21	24	23					12																	114793581		2200	4298	6498	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793581C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1313G>A	12.37:g.114793581C>T	ENSP00000309913:p.Arg438Gln					TBX5_uc001tvp.3_Missense_Mutation_p.R438Q|TBX5_uc001tvq.3_Missense_Mutation_p.R388Q	p.R438Q	NM_181486	NP_542448	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1808	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		438	MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1313G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321039	0.95682	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.59224	0.28;0.28;0.28	5.27	5.27	0.74061	.	0.208186	0.39475	N	0.001341	T	0.61476	0.2350	M	0.70275	2.135	0.80722	D	1	D	0.54601	0.967	B	0.44085	0.44	T	0.62941	-0.6747	10	0.29301	T	0.29	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	438	Q99593	TBX5_HUMAN	Q	388;438;335;438	ENSP00000337723:R388Q;ENSP00000309913:R438Q;ENSP00000384152:R438Q	ENSP00000309913:R438Q	R	-	2	0	TBX5	113277964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.482000	0.81143	2.463000	0.83235	0.655000	0.94253	CGG		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114793581	C	T	114793581	3	4	232	1	0	0	0	0	1	0	0	0	15658	652	23	2	247	2	TBX5	12	114793581	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	42021803	114793581	19058314	76	16374											
FAM48A	55578	broad.mit.edu	37	chr13	37583874	37583876	+	In_Frame_Del	DEL	GAT	GAT	-																															tgactggctgcctgtatgccGatgatgatgtagctgagctg																								rs149036783		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:37583874_37583876delGAT	ENST00000350612.6	-	26	2493_2495	c.2273_2275delATC	c.(2272-2277)catcgg>cgg	p.H758del	SUPT20H_ENST00000475892.1_In_Frame_Del_p.802_803SS>S|SUPT20H_ENST00000464744.1_In_Frame_Del_p.724_725SS>S|SUPT20H_ENST00000360252.4_In_Frame_Del_p.724_725SS>S|SUPT20H_ENST00000356185.3_In_Frame_Del_p.724_725SS>S	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	758					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CCTGTATGCCGATGATGATGTAG	0.424																																						uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(2404-2409)tcatcg>tcg		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37583874_37583876delGAT	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2273_2275delATC	13.37:g.37583880_37583882delGAT	ENSP00000218894:p.His758del					FAM48A_uc010abt.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwg.3_In_Frame_Del_p.H758del|FAM48A_uc001uwh.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.3_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwd.3_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.3_In_Frame_Del_p.H242del|FAM48A_uc001uwf.3_In_Frame_Del_p.H324del	p.802_803SS>S	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	24	2654_2656	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	723					E7ER46|Q71RF3|Q9Y6A6	In_Frame_Del	DEL	ENST00000350612.6	37	c.2406_2408delATC	CCDS31959.1																																																																																				0.424	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		-	37583876	GAT	-	37583874	7	5	232	1	0	1	0	1	0	0	0	0	5572	1059	37	0	68	0	FAM48A	13	37583874	In_Frame_Del	DEL	GAT	TCGA-32-2632-01A-01D-1495-08		37583874	77586004	77	16375											
RB1	5925	broad.mit.edu	37	chr13	48941711	48941711	+	Frame_Shift_Del	DEL	A	A	-																															gattatttttggatcatgatAaaactcttcagactgattct																								rs587778844|rs587778855		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:48941711delA	ENST00000267163.4	+	10	1159	c.1021delA	c.(1021-1023)aaafs	p.K341fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	341					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.D340fs*5(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGATCATGATAAAACTCTTCA	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(7)|Deletion - Frameshift(1)	p.0?(15)|p.?(7)|p.D340fs*5(2)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1021-1023)aaafs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70	84	79					13																	48941711		2192	4288	6480	SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941711delA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1021delA	13.37:g.48941711delA	ENSP00000267163:p.Lys341fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.K42fs	p.K341fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1187	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	341					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1021delA	CCDS31973.1																																																																																				0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48941711	A	-	48941711	7	5	232	1	0	1	0	1	0	0	0	0	13098	363	13	0	1059	0	RB1	13	48941711	Frame_Shift_Del	DEL	A	TCGA-32-2632-01A-01D-1495-08	11357837	48941711	66228167	78	16376											
CLYBL	171425	broad.mit.edu	37	chr13	100425234	100425234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagattgtgcagtgctcgaCtgtgaggatggagtggctgc	7	11	17	6	1	0	2	0	1	0	1	1	5	0	4	0	3	3	4	0	3	1	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:100425234C>G	ENST00000376360.1	+	2	246	c.219C>G	c.(217-219)gaC>gaG	p.D73E	CLYBL_ENST00000376354.1_Missense_Mutation_p.D73E|CLYBL_ENST00000339105.4_Missense_Mutation_p.D73E|CLYBL_ENST00000376355.3_Missense_Mutation_p.D73E|CLYBL_ENST00000444838.2_Missense_Mutation_p.D73E			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	73						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCTCGACTGTGAGGATG	0.398																																						uc001vok.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(217-219)gaC>gaG		Homo sapiens citrate lyase beta like (CLYBL), mRNA.							102	99	100					13																	100425234		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425234C>G	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.219C>G	13.37:g.100425234C>G	ENSP00000365538:p.Asp73Glu					CLYBL_uc010tix.2_Missense_Mutation_p.D73E|CLYBL_uc010tiy.2_Missense_Mutation_p.D73E	p.D73E	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			1	250	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		73					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.219C>G	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069525	0.55539	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.32	3.58	0.41010	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	M	0.92268	3.29	0.49299	D	0.999772	D;P;P	0.59357	0.985;0.814;0.845	D;B;P	0.63192	0.912;0.333;0.773	T	0.81415	-0.0943	10	0.59425	D	0.04	16.8327	10.0518	0.42221	0.0:0.7802:0.0:0.2198	.	73;73;73	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	E	73	ENSP00000365533:D73E;ENSP00000365538:D73E;ENSP00000404768:D73E;ENSP00000365532:D73E;ENSP00000342991:D73E	ENSP00000342991:D73E	D	+	3	2	CLYBL	99223235	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.736000	0.47385	0.623000	0.30267	0.462000	0.41574	GAC		0.398	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			G	100425234	C	G	100425234	3	3	232	1	0	0	0	0	1	0	0	0	3573	564	20	5	225	5	CLYBL	13	100425234	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	51483523	100425234	14744644	79	16377											
ATP11A	23250	broad.mit.edu	37	chr13	113485796	113485796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccacgtcatctgcaaCgggcaggtcctcccagagtc	7	7	11	16	2	2	1	1	0	1	1	5	1	4	1	4	2	3	2	4	2	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:113485796C>T	ENST00000487903.1	+	13	1417	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	ATP11A_ENST00000375630.2_Silent_p.N443N|ATP11A_ENST00000375645.3_Silent_p.N443N|ATP11A_ENST00000283558.8_Silent_p.N443N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	443					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCATCTGCAACGGGCAGGTCC	0.587																																						uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1327-1329)aaC>aaT		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							159	112	128					13																	113485796		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113485796C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1329C>T	13.37:g.113485796C>T						ATP11A_uc001vsi.4_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	p.N443N	NM_032189	NP_115565	P98196	AT11A_HUMAN			12	1417	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	443					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.1329C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	8.907	0.957737	0.18507	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.45	-0.104	0.13605	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	9.1559	0.36992	0.0:0.3608:0.0:0.6392	.	.	.	.	M	418	.	.	T	+	2	0	ATP11A	112533797	0.433000	0.25562	0.996000	0.52242	0.765000	0.43378	-0.378000	0.07446	-0.047000	0.13423	0.561000	0.74099	ACG		0.587	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		T	113485796	C	T	113485796	2	4	232	1	0	0	0	0	0	0	0	1	1119	535	19	1		1	ATP11A	13	113485796	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	13060562	113485796	1684082	80	16378											
MYH7	4625	broad.mit.edu	37	chr14	23883029	23883029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggactcggcgatgtccGcccgctcctctgcctcatcc	3	9	10	19	4	2	0	1	0	1	0	6	2	5	1	6	2	1	1	6	2	0	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23883029G>A	ENST00000355349.3	-	39	5891	c.5729C>T	c.(5728-5730)gCg>gTg	p.A1910V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1910					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGATGTCCGCCCGCTCCTC	0.622																																						uc001wjx.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(5728-5730)gCg>gTg		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							122	110	114					14																	23883029		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23883029G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5729C>T	14.37:g.23883029G>A	ENSP00000347507:p.Ala1910Val						p.A1910V	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	38	5835	-	all_cancers(95;2.54e-05)		1910					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5729C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472092	0.96274	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82619	-1.63	5.6	5.6	0.85130	Myosin tail (1);	.	.	.	.	D	0.94788	0.8317	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96096	0.9065	9	0.66056	D	0.02	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	1910	P12883	MYH7_HUMAN	V	1910;1915	ENSP00000347507:A1910V	ENSP00000347507:A1910V	A	-	2	0	MYH7	22952869	1.000000	0.71417	0.957000	0.39632	0.796000	0.44982	9.657000	0.98554	2.653000	0.90120	0.561000	0.74099	GCG		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23883029	G	A	23883029	3	1	232	1	0	0	0	0	1	0	0	0	10039	1087	38	1	86	1	MYH7	14	23883029	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		23883029	83466511	81	16379											
MYH7	4625	broad.mit.edu	37	chr14	23902877	23902877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgcgcttctagccgcTccttctctgacttgcgcagg	3	13	11	14	3	3	1	0	1	3	0	5	1	4	1	2	2	3	3	2	2	1	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23902877T>C	ENST00000355349.3	-	3	227	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	22					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTAGCCGCTCCTTCTCTGA	0.577																																						uc001wjx.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(64-66)gAg>gGg		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							78	74	75					14																	23902877		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902877T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.65A>G	14.37:g.23902877T>C	ENSP00000347507:p.Glu22Gly						p.E22G	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	2	171	-	all_cancers(95;2.54e-05)		22			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.65A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216649	0.58452	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86432	-2.12	4.26	4.26	0.50523	.	.	.	.	.	D	0.93923	0.8055	M	0.91663	3.23	0.58432	D	0.999993	D	0.76494	0.999	D	0.87578	0.998	D	0.94389	0.7612	9	0.87932	D	0	.	10.2363	0.43286	0.0:0.0:0.1664:0.8336	.	22	P12883	MYH7_HUMAN	G	22	ENSP00000347507:E22G	ENSP00000347507:E22G	E	-	2	0	MYH7	22972717	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.091000	0.64505	1.684000	0.51022	0.454000	0.30748	GAG		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		C	23902877	T	C	23902877	3	2	232	1	0	0	0	0	1	0	0	0	10039	1551	54	4	5894	4	MYH7	14	23902877	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	19848	23902877	83446663	82	16380											
LTBP2	4053	broad.mit.edu	37	chr14	74992813	74992813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgagtgacactggtcGtgacctgcacagaaacagga	12	7	13	9	1	0	4	0	3	0	1	1	5	0	5	1	2	3	2	1	2	1	0	rs551341275		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:74992813G>A	ENST00000261978.4	-	14	2779	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	LTBP2_ENST00000556690.1_Missense_Mutation_p.T798M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	798					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACACTGGTCGTGACCTGCAC	0.577													G|||	0	0	0	0	5008	,	,		19327	0		0	False		,,,				2504	0					uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2392-2394)aCg>aTg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							115	90	98					14																	74992813		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74992813G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2393C>T	14.37:g.74992813G>A	ENSP00000261978:p.Thr798Met						p.T798M	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	13	2780	-			798					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2393C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	6.894	0.534496	0.13188	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556359	T;T	0.78816	-1.21;-1.21	4.57	2.68	0.31781	.	0.409284	0.18240	N	0.147279	T	0.61862	0.2381	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.48768	-0.9006	10	0.33940	T	0.23	.	5.6037	0.17367	0.0987:0.0:0.7079:0.1935	.	798	Q14767	LTBP2_HUMAN	M	798;798;58	ENSP00000261978:T798M;ENSP00000451477:T798M	ENSP00000261978:T798M	T	-	2	0	LTBP2	74062566	0.654000	0.27367	0.020000	0.16555	0.419000	0.31324	0.897000	0.28390	0.806000	0.34183	-0.137000	0.14449	ACG		0.577	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	74992813	G	A	74992813	3	1	232	1	0	0	0	0	1	0	0	0	9074	1145	40	1	3164	1	LTBP2	14	74992813	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	51089936	74992813	32356727	83	16381											
NRXN3	9369	broad.mit.edu	37	chr14	79181464	79181464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccggcaccggatactggGgaagaacctgcgaaaggggt	11	4	16	10	3	0	1	0	0	0	1	0	4	0	3	3	6	3	2	3	6	4	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:79181464G>C	ENST00000554719.1	+	5	1398	c.907G>C	c.(907-909)Gga>Cga	p.G303R	NRXN3_ENST00000335750.5_Missense_Mutation_p.G303R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGATACTGGGGAAGAACCTG	0.587																																						uc001xun.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(907-909)Gga>Cga		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							44	45	44					14																	79181464		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79181464G>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.907G>C	14.37:g.79181464G>C	ENSP00000451648:p.Gly303Arg					NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G437R	p.G303R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1398	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.907G>C	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131227	0.77549	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.87491	-2.26;-2.26	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.235039	0.42294	D	0.000721	D	0.93743	0.8000	.	.	.	0.58432	D	0.999995	D;D	0.89917	0.957;1.0	B;D	0.73708	0.364;0.981	D	0.92539	0.6040	8	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	676;303	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	R	676;674;303;303	ENSP00000451648:G303R;ENSP00000338349:G303R	.	G	+	1	0	NRXN3	78251217	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.306000	0.59117	2.879000	0.98667	0.650000	0.86243	GGA		0.587	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		C	79181464	G	C	79181464	3	2	232	1	0	0	0	0	1	0	0	0	10667	1233	43	5	917	5	NRXN3	14	79181464	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	4188651	79181464	28168076	84	16382											
TDRD9	122402	broad.mit.edu	37	chr14	104481128	104481128	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcatgttgattctcggCgacctgtcatggaccaagag	10	10	11	10	2	2	2	1	1	1	1	3	4	2	3	2	2	1	2	2	2	1	2	rs143367834		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:104481128C>T	ENST00000409874.4	+	21	2221	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Nonsense_Mutation_p.R725*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	725					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGATTCTCGGCGACCTGTCAT	0.368													C|||	1	0.000199681	0	0	5008	,	,		18278	0		0.001	False		,,,				2504	0					uc001yom.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2173-2175)Cga>Tga		Homo sapiens tudor domain containing 9 (TDRD9), mRNA.		C	stop/ARG	0,4406		0,0,2203	153	153	153		2173	1.5	0	14	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	TDRD9	NM_153046.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		725/1383	104481128	1,13005	2203	4300	6503	SO:0001587	stop_gained	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104481128C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2173C>T	14.37:g.104481128C>T	ENSP00000387303:p.Arg725*					TDRD9_uc001yon.4_Nonsense_Mutation_p.R463*	p.R725*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			20	2203	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	725					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Nonsense_Mutation	SNP	ENST00000409874.4	37	c.2173C>T	CCDS9987.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	34|34	5.313706|5.313706	0.95655|0.95655	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|.	.|.	.|.	4.94|4.94	1.5|1.5	0.22942|0.22942	.|.	.|0.946620	.|0.08679	.|N	.|0.909770	T|.	0.24084|.	0.0583|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34850|.	-0.9812|.	3|.	.|0.09590	.|T	.|0.72	.|.	9.0243|9.0243	0.36220|0.36220	0.4118:0.5176:0.0:0.0706|0.4118:0.5176:0.0:0.0706	.|.	.|.	.|.	.|.	V|X	451|725	.|.	.|ENSP00000343545:R725X	A|R	+|+	2|1	0|2	TDRD9|TDRD9	103550881|103550881	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.977000|0.977000	0.68977|0.68977	0.450000|0.450000	0.21762|0.21762	0.424000|0.424000	0.26061|0.26061	0.563000|0.563000	0.77884|0.77884	GCG|CGA		0.368	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104481128	C	T	104481128	4	4	232	1	0	0	0	0	0	1	0	0	15733	760	27	1	2255	1	TDRD9	14	104481128	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	25299664	104481128	2868412	85	16383											
NDN	4692	broad.mit.edu	37	chr15	23931758	23931758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctctctctggcgccgcGgcccttcacgtagatgaggc	4	8	14	15	5	3	2	1	1	2	1	4	2	3	2	2	4	0	2	2	4	1	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:23931758G>A	ENST00000331837.4	-	1	692	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGCCGCGGCCCTTCACG	0.662									Prader-Willi syndrome																													uc001ywk.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(607-609)Cgc>Tgc		Homo sapiens necdin homolog (mouse) (NDN), mRNA.							25	25	25					15																	23931758		2197	4290	6487	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931758G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.607C>T	15.37:g.23931758G>A	ENSP00000332643:p.Arg203Cys						p.R203C	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	0	693	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	203			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.607C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855053	0.71719	.	.	ENSG00000182636	ENST00000331837	T	0.05319	3.46	3.22	3.22	0.36961	.	0.247548	0.39475	N	0.001349	T	0.07143	0.0181	N	0.08118	0	0.42351	D	0.992374	D	0.65815	0.995	P	0.56788	0.806	T	0.38308	-0.9667	10	0.87932	D	0	.	10.2293	0.43245	0.0:0.0:1.0:0.0	.	203	Q99608	NECD_HUMAN	C	203	ENSP00000332643:R203C	ENSP00000332643:R203C	R	-	1	0	NDN	21482851	0.999000	0.42202	0.994000	0.49952	0.980000	0.70556	1.800000	0.38833	2.114000	0.64651	0.561000	0.74099	CGC		0.662	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23931758	G	A	23931758	3	1	232	1	0	0	0	0	1	0	0	0	10247	1116	39	2	362	2	NDN	15	23931758	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		23931758	78599634	86	16384											
CSPG4	1464	broad.mit.edu	37	chr15	75980642	75980642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagactcttgacaaagaGgtggtcagcagagaggacac	13	7	14	7	0	2	4	1	2	1	3	2	7	2	5	0	3	1	2	0	3	1	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:75980642G>T	ENST00000308508.5	-	3	2856	c.2764C>A	c.(2764-2766)Ctc>Atc	p.L922I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	922	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGACAAAGAGGTGGTCAGCA	0.597																																						uc002baw.3																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2764-2766)Ctc>Atc		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.							78	78	78					15																	75980642		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980642G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2764C>A	15.37:g.75980642G>T	ENSP00000312506:p.Leu922Ile						p.L922I	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			2	2857	-			922			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2764C>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.336070	0.81801	.	.	ENSG00000173546	ENST00000308508	T	0.49720	0.77	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	T	0.67534	0.2903	M	0.78456	2.415	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.68911	-0.5284	10	0.45353	T	0.12	.	12.7904	0.57530	0.0817:0.0:0.9183:0.0	.	922	Q6UVK1	CSPG4_HUMAN	I	922	ENSP00000312506:L922I	ENSP00000312506:L922I	L	-	1	0	CSPG4	73767697	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.695000	0.74593	2.323000	0.78572	0.650000	0.86243	CTC		0.597	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75980642	G	T	75980642	3	4	232	1	0	0	0	0	1	0	0	0	3960	1000	35	5	4236	5	CSPG4	15	75980642	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	52048884	75980642	26550750	87	16385											
SYNM	23336	broad.mit.edu	37	chr15	99669677	99669677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcaagtttcaatcacaGctcggcactgtattctaacc	10	13	7	11	1	3	0	2	0	1	0	4	0	3	0	1	2	2	5	1	2	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:99669677G>A	ENST00000560674.1	+	4	723	c.254G>A	c.(253-255)aGc>aAc	p.S85N	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.S370N|SYNM_ENST00000328642.7_Missense_Mutation_p.S370N			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	371	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTCAATCACAGCTCGGCACTG	0.463																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1108-1110)aGc>aAc		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.							159	160	160					15																	99669677		1928	4143	6071	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99669677G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.254G>A	15.37:g.99669677G>A	ENSP00000453040:p.Ser85Asn					SYNM_uc002buo.3_Missense_Mutation_p.S370N|SYNM_uc002buq.3_Intron	p.S370N	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	1229	+			371			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1109G>A		.	.	.	.	.	.	.	.	.	.	G	9.445	1.089050	0.20390	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.84146	-1.81;-1.78	3.63	1.32	0.21799	.	.	.	.	.	T	0.77274	0.4106	.	.	.	0.09310	N	1	B;P	0.41366	0.155;0.747	B;B	0.40375	0.096;0.327	T	0.68352	-0.5431	8	0.87932	D	0	.	2.952	0.05865	0.1859:0.0:0.567:0.2471	.	371;370	O15061;C9JIE4	SYNEM_HUMAN;.	N	370	ENSP00000336775:S370N;ENSP00000330469:S370N	ENSP00000330469:S370N	S	+	2	0	SYNM	97487200	0.123000	0.22298	0.000000	0.03702	0.004000	0.04260	1.745000	0.38278	0.338000	0.23692	0.585000	0.79938	AGC		0.463	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		A	99669677	G	A	99669677	3	1	232	1	0	0	0	0	1	0	0	0	15452	971	34	3	1125	3	SYNM	15	99669677	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	23689035	99669677	2861715	88	16386											
GRIN2A	2903	broad.mit.edu	37	chr16	9943739	9943739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagatggttgtcatccGgctcacagtcggagaaggac	9	9	14	9	2	2	2	2	1	0	2	4	5	3	3	1	4	1	3	1	4	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:9943739G>A	ENST00000396573.2	-	6	1511	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P401Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTGTCATCCGGCTCACAGTC	0.587																																						uc010uym.2																			1	Substitution - Missense(1)	p.P401Q(2)|p.P401P(1)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1201-1203)cCg>cTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						147	120	129					16																	9943739		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943739G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1202C>T	16.37:g.9943739G>A	ENSP00000379818:p.Pro401Leu					GRIN2A_uc002czo.4_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P244L|GRIN2A_uc002czr.4_Missense_Mutation_p.P401L	p.P401L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			5	1512	-			401					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1202C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675400	0.47781	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	5.22	5.22	0.72569	.	0.285219	0.39544	N	0.001337	T	0.05960	0.0155	N	0.22421	0.69	0.58432	D	0.999993	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.43310	-0.9399	9	.	.	.	.	17.7785	0.88516	0.0:0.0:1.0:0.0	.	244;401;401	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	401;401;244;401;401	ENSP00000379818:P401L;ENSP00000385872:P401L;ENSP00000441572:P244L;ENSP00000332549:P401L;ENSP00000379820:P401L	.	P	-	2	0	GRIN2A	9851240	0.998000	0.40836	0.945000	0.38365	0.886000	0.51366	2.730000	0.47335	2.430000	0.82344	0.655000	0.94253	CCG		0.587	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9943739	G	A	9943739	3	1	232	1	0	0	0	0	1	0	0	0	6779	1116	39	2	3228	2	GRIN2A	16	9943739	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		9943739	80411014	89	16387											
HYDIN	54768	broad.mit.edu	37	chr16	70866858	70866858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaaggctctcctttcccaCctcggtgggatggtaggtca	8	10	11	12	1	2	0	1	0	1	0	5	1	3	1	3	5	0	2	3	5	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:70866858C>T	ENST00000393567.2	-	80	13942	c.13792G>A	c.(13792-13794)Gtg>Atg	p.V4598M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4598					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTTTCCCACCTCGGTGGGA	0.493																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13789-13791)Gtg>Atg		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							7	6	7					16																	70866858		1758	3972	5730	SO:0001583	missense	54768							g.chr16:70866858C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13792G>A	16.37:g.70866858C>T	ENSP00000377197:p.Val4598Met					HYDIN_uc010cfy.3_Non-coding_Transcript	p.V4597M	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			79	13940	-		Ovarian(137;0.0654)	4598					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13789G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378144	0.24944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01126	5.3	4.62	-3.02	0.05446	.	0.841227	0.09387	U	0.809180	T	0.02455	0.0075	L	0.55743	1.74	0.80722	D	1	P	0.40553	0.721	P	0.51701	0.677	T	0.59979	-0.7352	10	0.33940	T	0.23	.	7.37	0.26796	0.0:0.1769:0.2352:0.5878	.	4597	F8WD23	.	M	4598;4597	ENSP00000377197:V4598M	ENSP00000313052:V4597M	V	-	1	0	HYDIN	69424359	0.994000	0.37717	0.976000	0.42696	0.220000	0.24768	0.225000	0.17757	-0.075000	0.12798	-0.291000	0.09656	GTG		0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70866858	C	T	70866858	3	4	232	1	0	0	0	0	1	0	0	0	7467	507	18	3	1601	3	HYDIN	16	70866858	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	60923119	70866858	19487895	90	16388											
PRDM7	11105	broad.mit.edu	37	chr16	90128375	90128375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcttcgtcttctgtaattCggccctcataggggccaaag	7	12	9	13	2	4	0	1	0	3	0	6	0	4	0	3	3	0	1	3	3	3	5	rs373371930		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:90128375C>T	ENST00000449207.2	-	7	855	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PRDM7_ENST00000407825.1_Missense_Mutation_p.R73Q|PRDM7_ENST00000325921.6_Missense_Mutation_p.R73Q	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	279	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTGTAATTCGGCCCTCATA	0.547													.|||	1	0.000199681	8e-04	0	5008	,	,		20953	0		0	False		,,,				2504	0					uc010cje.3																			0				lung(2)|ovary(2)|stomach(1)	5						c.(835-837)cGa>cAa		Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.		T	GLN/ARG,GLN/ARG	1,4395		0,1,2197	113	110	111		836,218	-0.4	0.2	16		111	0,8600		0,0,4300	no	missense,missense	PRDM7	NM_001098173.1,NM_052996.2	43,43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	279/493,73/172	90128375	1,12995	2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90128375C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.836G>A	16.37:g.90128375C>T	ENSP00000396732:p.Arg279Gln					PRDM7_uc002fqo.3_Missense_Mutation_p.R73Q|PRDM7_uc010cjf.3_Missense_Mutation_p.R162Q|PRDM7_uc010cjg.1_Missense_Mutation_p.R73Q|PRDM7_uc010cjh.1_Non-coding_Transcript	p.R279Q	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	6	856	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	279			SET.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.836G>A	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.275732	0.00254	2.27E-4	0.0	ENSG00000126856	ENST00000325921;ENST00000449207;ENST00000407825	T;T;T	0.34472	1.36;1.36;1.36	1.96	-0.389	0.12455	SET domain (2);	.	.	.	.	T	0.11239	0.0274	N	0.02391	-0.57	0.19945	N	0.999941	B;B;B	0.28971	0.229;0.008;0.004	B;B;B	0.17979	0.02;0.002;0.003	T	0.27971	-1.0058	8	.	.	.	-10.1424	5.3464	0.16012	0.0:0.1892:0.0:0.8108	.	73;279;73	Q9NQW5-1;Q9NQW5;Q9NQW5-2	.;PRDM7_HUMAN;.	Q	73;279;73	ENSP00000315512:R73Q;ENSP00000396732:R279Q;ENSP00000385121:R73Q	.	R	-	2	0	PRDM7	88655876	0.717000	0.27966	0.226000	0.23910	0.003000	0.03518	1.354000	0.34056	-0.116000	0.11893	-1.139000	0.01908	CGA		0.547	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			T	90128375	C	T	90128375	3	4	232	1	0	0	0	0	1	0	0	0	12461	884	31	2	658	2	PRDM7	16	90128375	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	19261517	90128375	226378	91	16389											
MYOCD	93649	broad.mit.edu	37	chr17	12626268	12626268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctacgaccagggccactgGagctggtggaaaaaaacatt	13	7	11	10	1	1	0	0	0	1	0	1	3	1	2	2	4	3	1	2	4	4	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:12626268G>A	ENST00000343344.4	+	5	358	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYOCD_ENST00000425538.1_Missense_Mutation_p.E120K|AC005358.1_ENST00000609971.1_Missense_Mutation_p.E24K|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	120					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGCCACTGGAGCTGGTGGA	0.468																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(358-360)Gag>Aag		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.							135	138	137					17																	12626268		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626268G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.358G>A	17.37:g.12626268G>A	ENSP00000341835:p.Glu120Lys					MYOCD_uc002gnn.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	p.E120K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	4	657	+			120					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.358G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737525	0.69304	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.57436	0.4	5.33	4.34	0.51931	.	0.251697	0.38663	N	0.001602	T	0.49712	0.1573	M	0.64404	1.975	0.80722	D	1	B;B;B	0.27498	0.105;0.18;0.173	B;B;B	0.24006	0.05;0.02;0.045	T	0.55042	-0.8202	10	0.66056	D	0.02	-37.7438	13.4086	0.60929	0.0784:0.0:0.9216:0.0	.	24;120;120	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	K	120;120;24	ENSP00000341835:E120K	ENSP00000341835:E120K	E	+	1	0	MYOCD	12566993	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.771000	0.95319	0.561000	0.74099	GAG		0.468	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12626268	G	A	12626268	3	1	232	1	0	0	0	0	1	0	0	0	10087	1175	41	3	376	3	MYOCD	17	12626268	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		12626268	68568942	92	16390											
CCL14	6358	broad.mit.edu	37	chr17	34311432	34311432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccataatccgctgacGcgggatcttgtaggtagtgt	9	12	12	8	3	1	1	0	1	1	0	3	2	3	2	2	2	0	4	2	2	4	5	rs372808751		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:34311432G>A	ENST00000394509.4	-	2	244	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CCL14_ENST00000586216.1_Missense_Mutation_p.R46C|CTB-186H2.3_ENST00000593057.1_Intron|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.R62C|CCL14_ENST00000480944.2_Missense_Mutation_p.R68C|CCL14_ENST00000435911.2_Missense_Mutation_p.R62C			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	46					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGCTGACGCGGGATCTTG	0.552																																						uc010wcr.1																			0		p.P45R(1)		large_intestine(1)|lung(6)	7						c.(136-138)Cgt>Tgt		Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.							107	94	99					17																	34311432		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34311432G>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.136C>T	17.37:g.34311432G>A	ENSP00000378017:p.Arg46Cys					CCL16_uc002hkl.3_5'Flank|CCL16_uc002hkm.3_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_5'Flank	p.R46C	NM_032963	NP_116739	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	215	-		Ovarian(249;0.17)	46					E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	c.136C>T	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930111	0.34096	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05139	3.49;3.49;3.49	5.06	0.512	0.16994	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.848521	0.09515	U	0.791691	T	0.11580	0.0282	.	.	.	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.58928	0.848;0.764	T	0.29882	-0.9997	9	0.33940	T	0.23	.	4.4279	0.11513	0.1804:0.0:0.5084:0.3112	.	46;62	Q16627;Q16627-2	CCL14_HUMAN;.	C	46;62;62	ENSP00000378017:R46C;ENSP00000441771:R62C;ENSP00000409197:R62C	ENSP00000378017:R46C	R	-	1	0	CCL14	31335545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.313000	0.19415	0.202000	0.20498	0.563000	0.77884	CGT		0.552	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		A	34311432	G	A	34311432	3	1	232	1	0	0	0	0	1	0	0	0	2885	1087	38	1	153	1	CCL14	17	34311432	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	21685164	34311432	46883778	93	16391											
KRT38	8687	broad.mit.edu	37	chr17	39597030	39597030	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcggttggcatgtgccacGttggccaaaaggcacatggg	9	8	14	10	2	0	0	0	0	0	0	1	0	0	0	2	5	1	4	2	5	2	2	rs369697357		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:39597030G>A	ENST00000246646.3	-	1	143	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	48	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CATGTGCCACGTTGGCCAAAA	0.632																																						uc002hwq.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(142-144)aaC>aaT		Homo sapiens keratin 38 (KRT38), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	48	50	50		144	-2.1	0	17		50	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT38	NM_006771.3		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		48/457	39597030	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39597030G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.144C>T	17.37:g.39597030G>A							p.N48N	NM_006771	NP_006762	O76015	KRT38_HUMAN			0	567	-		Breast(137;0.000496)	48			Head.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.144C>T	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		A	39597030	G	A	39597030	2	1	232	1	0	0	0	0	0	0	0	1	8475	1136	40	1		1	KRT38	17	39597030	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	5285598	39597030	41598180	94	16392											
ABCA9	10350	broad.mit.edu	37	chr17	67041451	67041451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattcatccatgcttttttCatcaggccaccccatgattg	9	14	5	13	0	3	1	3	1	0	0	4	1	4	1	4	1	1	1	4	1	1	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:67041451C>T	ENST00000340001.4	-	4	542	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ABCA9_ENST00000370732.2_Missense_Mutation_p.E111K|ABCA9_ENST00000453985.2_Missense_Mutation_p.E111K|ABCA9_ENST00000495634.1_Missense_Mutation_p.E111K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	111					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGCTTTTTTCATCAGGCCAC	0.383																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(331-333)Gaa>Aaa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							149	142	144					17																	67041451		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67041451C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.331G>A	17.37:g.67041451C>T	ENSP00000342216:p.Glu111Lys					ABCA9_uc010dez.3_Missense_Mutation_p.E111K|ABCA9_uc002jhv.3_Missense_Mutation_p.E111K	p.E111K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			3	474	-	Breast(10;1.47e-12)		111					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.331G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085020	0.55861	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88509	-2.39;-2.39	4.39	4.39	0.52855	.	0.610128	0.13548	U	0.379690	D	0.89591	0.6759	M	0.69358	2.11	0.29481	N	0.856348	B;B	0.27166	0.165;0.17	B;B	0.37833	0.121;0.259	D	0.85899	0.1433	10	0.49607	T	0.09	.	12.6291	0.56646	0.0:1.0:0.0:0.0	.	111;111	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	111;94;111;106	ENSP00000342216:E111K;ENSP00000359767:E111K	ENSP00000342216:E111K	E	-	1	0	ABCA9	64553046	0.996000	0.38824	0.937000	0.37676	0.874000	0.50279	1.331000	0.33793	2.426000	0.82243	0.591000	0.81541	GAA		0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		T	67041451	C	T	67041451	3	4	232	1	0	0	0	0	1	0	0	0	39	835	29	3	4687	3	ABCA9	17	67041451	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	27444421	67041451	14153759	95	16393											
CABYR	26256	broad.mit.edu	37	chr18	21735681	21735681	+	De_novo_Start_OutOfFrame	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtagagaaatggtcagaAggaacgacaccacagaagaa	19	4	11	7	1	2	4	2	0	0	4	2	7	2	5	1	2	1	1	1	2	6	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:21735681A>T	ENST00000327201.6	+	0	39				CABYR_ENST00000399499.1_Missense_Mutation_p.E72D|CABYR_ENST00000399496.3_Missense_Mutation_p.E72D|CABYR_ENST00000581397.1_Missense_Mutation_p.E72D|CABYR_ENST00000415309.2_Missense_Mutation_p.E72D|CABYR_ENST00000399481.2_De_novo_Start_OutOfFrame	NM_138643.2	NP_619584.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated						epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATGGTCAGAAGGAACGACAC	0.328																																						uc002kux.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(214-216)gaA>gaT		Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.							59	60	60					18																	21735681		2203	4300	6503			26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735681A>T	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000327201.6:c.-79A>T	18.37:g.21735681A>T						CABYR_uc021uig.1_Missense_Mutation_p.E54D|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.E72D|CABYR_uc002kuz.3_Missense_Mutation_p.E72D|CABYR_uc002kva.3_Missense_Mutation_p.E54D|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.E72D|CABYR_uc010dlw.3_Non-coding_Transcript	p.E72D	NM_012189	NP_036321	O75952	CABYR_HUMAN			3	368	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		72					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000327201.6	37	c.216A>T	CCDS11883.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439862	0.43326	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399499	T;T;T	0.51071	0.72;1.31;0.72	6.08	2.45	0.29901	.	0.101910	0.43747	D	0.000522	T	0.51702	0.1690	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.69078	0.985;0.997;0.994;0.982	P;P;D;P	0.63283	0.851;0.847;0.913;0.73	T	0.49952	-0.8884	10	0.62326	D	0.03	-14.2726	4.6031	0.12363	0.7046:0.0:0.1528:0.1426	.	54;72;72;72	O75952-2;O75952-4;O75952-3;O75952	.;.;.;CABYR_HUMAN	D	72	ENSP00000382419:E72D;ENSP00000399973:E72D;ENSP00000382421:E72D	ENSP00000382419:E72D	E	+	3	2	CABYR	19989679	1.000000	0.71417	0.998000	0.56505	0.447000	0.32167	0.697000	0.25556	0.526000	0.28541	0.533000	0.62120	GAA		0.328	CABYR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254900.1	NM_153770		T	21735681	A	T	21735681	1	4	232	1	0	1	0	0	0	0	0	0	2536	69	3	5		5	CABYR	18	21735681	De_novo_Start_OutOfFrame	SNP	A	TCGA-32-2632-01A-01D-1495-08		21735681	56341567	96	16394											
MEP1B	4225	broad.mit.edu	37	chr18	29784271	29784271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctggcatgagcagtcGcgttctgaccgggatgacta	8	10	14	9	3	2	3	0	3	2	0	3	5	2	5	1	3	1	3	1	3	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:29784271G>A	ENST00000269202.6	+	7	542	c.495G>A	c.(493-495)tcG>tcA	p.S165S	MEP1B_ENST00000581447.1_Silent_p.S165S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	165	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGAGCAGTCGCGTTCTGACC	0.458																																						uc002kxj.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(493-495)tcG>tcA		Homo sapiens meprin A, beta (MEP1B), mRNA.							115	124	121					18																	29784271		1997	4174	6171	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29784271G>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.495G>A	18.37:g.29784271G>A							p.S165S	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			6	542	+			165			Metalloprotease.		B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.495G>A	CCDS45846.1																																																																																				0.458	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		A	29784271	G	A	29784271	2	1	232	1	0	0	0	0	0	0	0	1	9476	1074	38	1		1	MEP1B	18	29784271	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	8048590	29784271	48292977	97	16395											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60017106	60017106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtctgccctgtggcccGgatgaatacttggatagctg	7	12	13	9	1	1	1	0	1	1	0	1	3	1	3	2	3	3	2	2	3	4	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:60017106G>A	ENST00000586569.1	+	3	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_ENST00000269485.7_Silent_p.P73P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	73					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.P73P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423																																						uc002lin.3																			1	Substitution - coding silent(1)	p.P73P(2)	cervix(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(217-219)ccG>ccA		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							192	182	185					18																	60017106		2203	4300	6503	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60017106G>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.219G>A	18.37:g.60017106G>A						TNFRSF11A_uc010dpv.3_Silent_p.P73P	p.P73P	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			2	257	+		Colorectal(73;0.188)	73					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.219G>A	CCDS11980.1																																																																																				0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			A	60017106	G	A	60017106	2	1	232	1	0	0	0	0	0	0	0	1	16281	1103	39	2		2	TNFRSF11A	18	60017106	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	30232835	60017106	18060142	98	16396											
HMHA1	23526	broad.mit.edu	37	chr19	1080969	1080969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaggggctgtccaaggCggcccgtactcaccggctcc	6	5	13	17	4	1	0	1	0	0	0	3	1	3	0	5	5	1	3	5	5	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:1080969C>T	ENST00000313093.2	+	17	2327	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	HMHA1_ENST00000539243.2_Missense_Mutation_p.A715V|HMHA1_ENST00000590577.1_Missense_Mutation_p.A334V|HMHA1_ENST00000590214.1_Missense_Mutation_p.A726V|HMHA1_ENST00000586866.1_Missense_Mutation_p.A703V|HMHA1_ENST00000543365.1_Missense_Mutation_p.A582V|HMHA1_ENST00000536472.1_Missense_Mutation_p.A567V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	699					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCCAAGGCGGCCCGTACT	0.682																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2095-2097)gCg>gTg		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							16	18	17					19																	1080969		2190	4290	6480	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080969C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2096C>T	19.37:g.1080969C>T	ENSP00000316772:p.Ala699Val					HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V	p.A699V	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2327	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	699					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2096C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343538	0.82022	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	D	0.93427	0.6782	10	0.87932	D	0	-19.3649	15.0595	0.71942	0.0:1.0:0.0:0.0	.	567;715;334;582;699	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	V	715;699;699;567;693;582	ENSP00000439601:A715V;ENSP00000316772:A699V;ENSP00000445109:A567V;ENSP00000438979:A582V	ENSP00000316772:A699V	A	+	2	0	HMHA1	1031969	1.000000	0.71417	0.913000	0.36048	0.259000	0.26198	5.491000	0.66887	1.871000	0.54225	0.491000	0.48974	GCG		0.682	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			T	1080969	C	T	1080969	3	4	232	1	0	0	0	0	1	0	0	0	7240	768	27	1	2162	1	HMHA1	19	1080969	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		1080969	58048014	99	16397											
RDH8	50700	broad.mit.edu	37	chr19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaggggaagcttctggCgcaggtttctatggctgagt	6	13	16	6	1	2	2	0	2	2	0	2	3	2	3	0	5	1	5	0	5	2	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:10131987C>T	ENST00000171214.1	+	5	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V	RDH8_ENST00000591589.1_Missense_Mutation_p.A218V	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	198					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602																																						uc002mmr.3																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(592-594)gCg>gTg		Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	Vitamin A(DB00162)						82	78	80					19																	10131987		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131987C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.593C>T	19.37:g.10131987C>T	ENSP00000171214:p.Ala198Val						p.A198V	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	842	+			198					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.593C>T		.	.	.	.	.	.	.	.	.	.	C	14.75	2.627588	0.46944	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	5.17	1.54	0.23209	NAD(P)-binding domain (1);	0.228496	0.43747	D	0.000533	D	0.87237	0.6127	L	0.38175	1.15	0.29073	N	0.883165	P	0.36315	0.547	B	0.32289	0.143	T	0.82051	-0.0649	10	0.39692	T	0.17	.	12.1111	0.53840	0.4104:0.5896:0.0:0.0	.	198	Q9NYR8	RDH8_HUMAN	V	198	ENSP00000171214:A198V	ENSP00000171214:A198V	A	+	2	0	RDH8	9992987	0.985000	0.35326	0.991000	0.47740	0.910000	0.53928	2.304000	0.43655	1.015000	0.39444	0.462000	0.41574	GCG		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	10131987	C	T	10131987	3	4	232	1	0	0	0	0	1	0	0	0	13196	768	27	1	611	1	RDH8	19	10131987	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9051018	10131987	48996996	100	16398											
CYP4F22	126410	broad.mit.edu	37	chr19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggcggcgggcactgcGtcagcagggggccgaggcct	6	3	20	12	5	1	0	1	0	0	0	1	2	1	1	2	7	3	2	2	7	1	0	rs146265982		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:15651449G>A	ENST00000269703.3	+	8	1059	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	287						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632																																						uc002nbh.4																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(859-861)cGt>cAt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.							52	49	50					19																	15651449		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651449G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.860G>A	19.37:g.15651449G>A	ENSP00000269703:p.Arg287His						p.R287H	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			7	1027	+			287					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.860G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770824	0.15983	.	.	ENSG00000171954	ENST00000269703	T	0.69435	-0.4	5.39	-8.26	0.01021	.	0.837839	0.11097	N	0.600125	T	0.41811	0.1175	N	0.16790	0.44	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26710	-1.0095	10	0.49607	T	0.09	.	8.7882	0.34835	0.628:0.2224:0.1495:0.0	.	287	Q6NT55	CP4FN_HUMAN	H	287	ENSP00000269703:R287H	ENSP00000269703:R287H	R	+	2	0	CYP4F22	15512449	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.885000	0.01620	-1.278000	0.02408	-0.476000	0.04901	CGT		0.632	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		A	15651449	G	A	15651449	3	1	232	1	0	0	0	0	1	0	0	0	4189	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5519462	15651449	43477534	101	16399											
GTPBP3	84705	broad.mit.edu	37	chr19	17452117	17452117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaggcgctgaggaaGgagctagctgcagtgtgagc	8	7	17	9	1	0	2	0	2	0	0	1	5	1	5	1	4	4	4	1	4	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:17452117G>A	ENST00000324894.8	+	8	1307	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	GTPBP3_ENST00000361619.5_Silent_p.K435K|GTPBP3_ENST00000358792.7_Silent_p.K445K|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.K392K	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	413	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGCTGAGGAAGGAGCTAGCTG	0.642																																						uc002ngg.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1333-1335)aaG>aaA		Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.							18	21	20					19																	17452117		2201	4297	6498	SO:0001819	synonymous_variant	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452117G>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1239G>A	19.37:g.17452117G>A						GTPBP3_uc010xpo.2_Silent_p.K435K|GTPBP3_uc010eas.3_Silent_p.K413K|GTPBP3_uc002ngh.4_Silent_p.K392K	p.K445K	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN			6	1430	+			413					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	c.1335G>A	CCDS32951.1																																																																																				0.642	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		A	17452117	G	A	17452117	2	1	232	1	0	0	0	0	0	0	0	1	6881	991	35	3		3	GTPBP3	19	17452117	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	1800668	17452117	41676866	102	16400											
PGPEP1	54858	broad.mit.edu	37	chr19	18468321	18468321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgctgcgtggaggaCgggcctgaaagcattgactc	8	8	14	11	2	0	2	0	2	0	0	2	4	1	4	2	3	3	2	2	3	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:18468321C>T	ENST00000269919.6	+	4	428	c.333C>T	c.(331-333)gaC>gaT	p.D111D	PGPEP1_ENST00000604499.2_Silent_p.D111D|PGPEP1_ENST00000252813.5_Silent_p.D34D|PGPEP1_ENST00000595066.1_Silent_p.D111D|PGPEP1_ENST00000597431.2_Intron	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	111						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)										GCGTGGAGGACGGGCCTGAAA	0.592																																						uc002nis.1																			0											c.(331-333)gaC>gaT		Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA.							133	83	100					19																	18468321		2203	4300	6503	SO:0001819	synonymous_variant	54858						cysteine-type peptidase activity	g.chr19:18468321C>T	AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"pyroglutamyl aminopeptidase"	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.333C>T	19.37:g.18468321C>T						PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	p.D111D	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN			3	417	+			111					A8K1Q3|Q8IVT1	Silent	SNP	ENST00000269919.6	37	c.333C>T	CCDS12375.1																																																																																				0.592	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3	NM_017712		T	18468321	C	T	18468321	2	4	232	1	0	0	0	0	0	0	0	1	11803	535	19	1		1	PGPEP1	19	18468321	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	1016204	18468321	40660662	103	16401											
ZNF599	148103	broad.mit.edu	37	chr19	35250777	35250777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattctttgcataaaaagGgtttttctcgagtgtgagtc	10	15	9	7	1	2	1	0	1	2	0	4	2	2	1	0	1	1	2	0	1	3	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:35250777G>T	ENST00000329285.8	-	4	1302	c.929C>A	c.(928-930)cCc>cAc	p.P310H		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCATAAAAAGGGTTTTTCTCG	0.418																																						uc010edn.1																			0		p.K309N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(928-930)cCc>cAc		Homo sapiens zinc finger protein 599 (ZNF599), mRNA.							98	108	105					19																	35250777		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250777G>T	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.929C>A	19.37:g.35250777G>T	ENSP00000333802:p.Pro310His					ZNF599_uc010edm.2_Missense_Mutation_p.P273H	p.P310H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		3	1317	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		310					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.929C>A	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149413	0.37923	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.17528	2.27	2.36	1.26	0.21427	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47116	0.1428	M	0.93854	3.465	0.40488	D	0.980516	D	0.89917	1.0	D	0.91635	0.999	T	0.54497	-0.8285	9	0.87932	D	0	.	8.9088	0.35541	0.0:0.2324:0.7675:0.0	.	310	Q96NL3	ZN599_HUMAN	H	309;310	ENSP00000333802:P310H	ENSP00000333802:P310H	P	-	2	0	ZNF599	39942617	0.996000	0.38824	0.974000	0.42286	0.965000	0.64279	2.594000	0.46189	0.528000	0.28580	0.491000	0.48974	CCC		0.418	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		T	35250777	G	T	35250777	3	4	232	1	0	0	0	0	1	0	0	0	18026	1232	43	5	841	5	ZNF599	19	35250777	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16782456	35250777	23878206	104	16402											
CCDC8	83987	broad.mit.edu	37	chr19	46914658	46914658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttgacctgtttccgggcCctggctcctggagctgttcc	2	13	12	14	1	1	1	0	1	1	0	4	2	4	2	5	3	1	4	5	3	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:46914658C>T	ENST00000307522.3	-	1	2183	c.1410G>A	c.(1408-1410)agG>agA	p.R470R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	470					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTTCCGGGCCCTGGCTCCTG	0.612																																						uc002pep.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1408-1410)agG>agA		Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.							56	59	58					19																	46914658		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914658C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1410G>A	19.37:g.46914658C>T							p.R470R	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	0	2262	-			470					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1410G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337806	0.41398	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.98	-2.05	0.07321	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.33343	-0.9872	5	0.21540	T	0.41	-10.9807	8.594	0.33703	0.0:0.4347:0.0:0.5653	.	.	.	.	E	317	.	ENSP00000441180:G317E	G	-	2	0	CCDC8	51606498	.	.	0.002000	0.10522	0.979000	0.70002	.	.	-0.223000	0.09943	0.555000	0.69702	GGG		0.612	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		T	46914658	C	T	46914658	2	4	232	1	0	0	0	0	0	0	0	1	2853	622	22	3		3	CCDC8	19	46914658	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	11663881	46914658	12214325	105	16403											
LILRB1	10859	broad.mit.edu	37	chr19	55147969	55147969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacacgatgaagaccccCaggcagtgacgtatgccgag	11	4	12	14	3	0	3	0	2	0	1	0	5	0	3	4	1	1	2	4	1	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55147969C>A	ENST00000396331.1	+	15	2029	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	LILRB1_ENST00000396332.4_Missense_Mutation_p.Q559K|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q558K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q558K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q542K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q560K|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q559K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q609K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q560K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q542K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	558					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGAAGACCCCCAGGCAGTGAC	0.572										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1672-1674)Cag>Aag		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							54	55	54					19																	55147969		2202	4297	6499	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147969C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1672C>A	19.37:g.55147969C>A	ENSP00000379622:p.Gln558Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.3_Missense_Mutation_p.Q560K|LILRB1_uc010erq.3_Missense_Mutation_p.Q542K|LILRB1_uc010err.3_Non-coding_Transcript	p.Q558K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	14	2012	+			558					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1672C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803838	0.16467	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00522	6.93;6.97;6.93;6.93;6.94;6.93;6.91;6.84;6.97;6.94	1.59	-0.76	0.11041	.	.	.	.	.	T	0.00815	0.0027	M	0.85945	2.785	0.09310	N	1	B;P;B;P;P	0.49559	0.048;0.763;0.146;0.925;0.651	B;B;B;P;B	0.47162	0.012;0.229;0.057;0.54;0.115	T	0.42515	-0.9447	9	0.87932	D	0	.	4.0265	0.09690	0.0:0.5587:0.0:0.4413	.	542;560;559;559;558	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	558;542;558;559;560;558;559;609;542;560	ENSP00000379614:Q558K;ENSP00000391514:Q542K;ENSP00000379622:Q558K;ENSP00000379618:Q559K;ENSP00000315997:Q560K;ENSP00000405243:Q558K;ENSP00000379623:Q559K;ENSP00000395004:Q609K;ENSP00000379610:Q542K;ENSP00000379608:Q560K	ENSP00000315997:Q560K	Q	+	1	0	LILRB1	59839781	0.003000	0.15002	0.001000	0.08648	0.042000	0.13812	0.316000	0.19469	-0.111000	0.12001	0.194000	0.17425	CAG		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55147969	C	A	55147969	3	1	232	1	0	0	0	0	1	0	0	0	8790	595	21	5	1728	5	LILRB1	19	55147969	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	8233311	55147969	3981014	106	16404											
NLRP7	199713	broad.mit.edu	37	chr19	55451000	55451000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccggctgcagaggaaaCgcaggaacagccccgtgcgg	11	2	16	12	4	0	1	0	0	0	1	0	4	0	4	3	5	6	3	3	5	3	0	rs375095148		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55451000C>T	ENST00000590030.1	-	3	1227	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP7_ENST00000588756.1_Missense_Mutation_p.R396H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R396H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R396H|NLRP7_ENST00000448121.2_Missense_Mutation_p.R396H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R396H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R424H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	396	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAGAGGAAACGCAGGAACAG	0.706																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1186-1188)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							7	8	8					19																	55451000		2037	4048	6085	SO:0001583	missense	199713						ATP binding	g.chr19:55451000C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1187G>A	19.37:g.55451000C>T	ENSP00000465520:p.Arg396His					NLRP7_uc010esk.3_Missense_Mutation_p.R396H|NLRP7_uc002qig.4_Missense_Mutation_p.R396H|NLRP7_uc002qii.4_Missense_Mutation_p.R396H|NLRP7_uc010esl.3_Missense_Mutation_p.R424H	p.R396H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	1263	-			396			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1187G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653157	0.14580	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.71934	-0.55;-0.55;-0.61;-0.57	1.89	-1.54	0.08584	.	0.840893	0.09715	N	0.765148	T	0.34948	0.0915	N	0.02379	-0.575	0.09310	N	1	B;B;B;B	0.26775	0.099;0.099;0.099;0.159	B;B;B;B	0.20384	0.009;0.027;0.027;0.029	T	0.21280	-1.0250	10	0.13853	T	0.58	.	3.3583	0.07177	0.0:0.3292:0.2164:0.4544	.	424;396;396;396	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	396;396;396;424;163	ENSP00000329568:R396H;ENSP00000409137:R396H;ENSP00000339491:R396H;ENSP00000414273:R424H	ENSP00000329568:R396H	R	-	2	0	NLRP7	60142812	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.428000	0.21395	-0.361000	0.08125	-0.448000	0.05591	CGT		0.706	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55451000	C	T	55451000	3	4	232	1	0	0	0	0	1	0	0	0	10482	536	19	1	1958	1	NLRP7	19	55451000	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	303031	55451000	3677983	107	16405											
PHF20	51230	broad.mit.edu	37	chr20	34526877	34526877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaccctgccgtggagcaGaagctggtggtggagacgag	9	8	16	8	2	0	2	0	0	0	2	0	5	0	3	2	4	4	2	2	4	3	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:34526877G>A	ENST00000374012.3	+	16	2688	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	853					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCGTGGAGCAGAAGCTGGTGG	0.647																																						uc002xek.1																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2557-2559)caG>caA		Homo sapiens PHD finger protein 20 (PHF20), mRNA.							53	47	49					20																	34526877		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526877G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2559G>A	20.37:g.34526877G>A							p.Q853Q	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			15	2670	+	Breast(12;0.00631)|all_lung(11;0.0145)		853					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.2559G>A	CCDS13268.1																																																																																				0.647	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		A	34526877	G	A	34526877	2	1	232	1	0	0	0	0	0	0	0	1	11831	933	33	3		3	PHF20	20	34526877	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		34526877	28498643	108	16406											
SEMG1	6406	broad.mit.edu	37	chr20	43836560	43836560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtagctaacaaacaacaaCgtgagactaaaaattctcat	19	9	5	8	1	1	1	1	1	1	1	2	2	1	1	0	0	5	2	0	0	9	5	rs141417035		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:43836560C>T	ENST00000372781.3	+	2	679	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R208C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	208	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.403													C|||	1	0.000199681	0	0	5008	,	,		23434	0.001		0	False		,,,				2504	0					uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							88	79	82					20																	43836560		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836560C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.622C>T	20.37:g.43836560C>T	ENSP00000361867:p.Arg208Cys					SEMG2_uc002xni.2_Missense_Mutation_p.R208C|SEMG2_uc002xnj.2_Missense_Mutation_p.R208C		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.753	1.168041	0.21621	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.11385	2.78;2.78	1.17	-2.34	0.06704	.	.	.	.	.	T	0.20129	0.0484	L	0.51422	1.61	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.999	P;D;P	0.68483	0.804;0.958;0.877	T	0.09314	-1.0680	9	0.59425	D	0.04	.	6.5402	0.22377	0.3334:0.6666:0.0:0.0	.	208;208;208	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	C	208	ENSP00000244069:R208C;ENSP00000361867:R208C	ENSP00000244069:R208C	R	+	1	0	SEMG1	43269974	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	-1.326000	0.02266	-0.602000	0.04101	CGT		0.403	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		T	43836560	C	T	43836560	3	4	232	1	0	0	0	0	1	0	0	0	14044	536	19	1	628	1	SEMG1	20	43836560	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9309683	43836560	19188960	109	16407											
ADAMTS1	9510	broad.mit.edu	37	chr21	28217207	28217207	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccgagaccccggagcccGctccgcgttccccatgtcgc	4	6	11	20	6	0	1	0	0	0	1	4	3	3	2	7	1	1	3	7	1	0	1	rs201167243		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:28217207G>T	ENST00000284984.3	-	1	521	c.67C>A	c.(67-69)Cgg>Agg	p.R23R		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	23					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCCGGAGCCCGCTCCGCGTTC	0.711											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ymf.3																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(67-69)Cgg>Agg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.							9	12	11					21																	28217207		2135	4150	6285	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28217207G>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.67C>A	21.37:g.28217207G>T			OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	800		p.R23R	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	0	522	-		Breast(209;0.000962)	23					D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.67C>A	CCDS33524.1																																																																																				0.711	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			T	28217207	G	T	28217207	2	4	232	1	0	0	0	0	0	0	0	1	255	1086	38	5		5	ADAMTS1	21	28217207	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		28217207	19912688	110	16408											
RNF160	26046	broad.mit.edu	37	chr21	30359239	30359239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcaaggagttctgcagctCggccactgtttgaaggctga	8	10	14	9	1	1	2	0	2	1	0	2	3	1	3	1	4	2	6	1	4	2	2	rs375416726		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:30359239C>T	ENST00000361371.5	-	2	138	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	LTN1_ENST00000389194.2_Missense_Mutation_p.R66Q|LTN1_ENST00000389195.2_Missense_Mutation_p.R66Q			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	20					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTCTGCAGCTCGGCCACTGTT	0.433																																						uc002ymr.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(196-198)cGa>cAa		Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	41	41	41		197	4.6	1	21		41	2,8598	2.2+/-6.3	0,2,4298	no	missense	LTN1	NM_015565.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	66/1813	30359239	2,13004	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359239C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.59G>A	21.37:g.30359239C>T	ENSP00000354977:p.Arg20Gln					LTN1_uc010gll.1_Non-coding_Transcript	p.R66Q	NM_015565	NP_056380	O94822	LTN1_HUMAN			1	210	-			20					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.197G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.221331	0.95139	0.0	2.33E-4	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.28666	1.95;1.96;1.6	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000004	T	0.59473	0.2196	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64901	-0.6298	10	0.51188	T	0.08	.	17.5386	0.87841	0.0:1.0:0.0:0.0	.	20	O94822	LTN1_HUMAN	Q	66;20;20;66	ENSP00000373846:R66Q;ENSP00000354977:R20Q;ENSP00000373847:R66Q	ENSP00000354977:R20Q	R	-	2	0	LTN1	29281110	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.487000	0.60293	2.372000	0.80975	0.561000	0.74099	CGA		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30359239	C	T	30359239	3	4	232	1	0	0	0	0	1	0	0	0	13455	884	31	2	5357	2	RNF160	21	30359239	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	2142032	30359239	17770656	111	16409											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	10	5	12	14	2	0	0	0	0	0	0	0	1	0	1	3	3	3	4	3	3	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						uc003bav.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.							83	76	79					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN			2	363	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		A	42071074	G	A	42071074	3	1	232	1	0	0	0	0	1	0	0	0	10410	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		42071074	9233492	112	16410											
EFCAB6	64800	broad.mit.edu	37	chr22	43933388	43933388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggatcacagttctgcaagGgtggagtgcccgggatcacg	8	8	16	9	2	3	0	2	0	1	0	3	3	3	3	1	4	2	2	1	4	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:43933388G>A	ENST00000262726.7	-	29	4170	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.P1154L|EFCAB6-AS1_ENST00000431327.3_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1306	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTTCTGCAAGGGTGGAGTGCC	0.517																																						uc003bdy.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3916-3918)cCc>cTc		Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.							66	67	66					22																	43933388		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43933388G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3917C>T	22.37:g.43933388G>A	ENSP00000262726:p.Pro1306Leu					EFCAB6_uc003bdz.2_Missense_Mutation_p.P1154L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1154L	p.P1306L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN			28	4231	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1306			Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3917C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955455	0.73902	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.24538	1.87;1.85	4.71	4.71	0.59529	EF-hand calcium-binding domain-containing protein 6 (1);	0.170736	0.37095	N	0.002256	T	0.49932	0.1586	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49934	-0.8886	10	0.45353	T	0.12	-6.6055	15.4299	0.75084	0.0:0.0:1.0:0.0	.	1306	Q5THR3	EFCB6_HUMAN	L	1154;1306	ENSP00000379533:P1154L;ENSP00000262726:P1306L	ENSP00000262726:P1306L	P	-	2	0	EFCAB6	42264721	0.264000	0.24093	0.050000	0.19076	0.288000	0.27193	0.858000	0.27845	2.155000	0.67459	0.655000	0.94253	CCC		0.517	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	43933388	G	A	43933388	3	1	232	1	0	0	0	0	1	0	0	0	4939	1232	43	3	604	3	EFCAB6	22	43933388	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	1862314	43933388	7371178	113	16411											
DMD	1756	broad.mit.edu	37	chrX	32486813	32486813	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttgttgctcttgcagAgaactttgtaaagcctaaaa	12	13	7	9	0	1	1	0	0	1	1	1	2	1	1	2	0	4	4	2	0	5	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:32486813A>G	ENST00000357033.4	-	23	3170	c.2964T>C	c.(2962-2964)tcT>tcC	p.S988S	DMD_ENST00000378677.2_Silent_p.S984S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	988					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTGCAGAGAACTTTGTA	0.333																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2962-2964)tcT>tcC		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							52	46	48					X																	32486813		2201	4297	6498	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32486813A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2964T>C	X.37:g.32486813A>G						DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	p.S988S	NM_004006	NP_004001	P11532	DMD_HUMAN			22	3208	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	988					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.2964T>C	CCDS14233.1																																																																																				0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	32486813	A	G	32486813	2	3	232	1	0	0	0	0	0	0	0	1	4580	291	11	4		4	DMD	23	32486813	Silent	SNP	A	TCGA-32-2632-01A-01D-1495-08		32486813	122783747	114	16412											
RPGR	6103	broad.mit.edu	37	chrX	38182768	38182768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcccaaatgtaaacacaGcacccgaatctgcaaatata	16	10	4	11	1	1	0	0	0	1	0	2	1	2	0	2	0	3	3	2	0	7	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:38182768G>A	ENST00000339363.3	-	2	205	c.38C>T	c.(37-39)gCt>gTt	p.A13V	RPGR_ENST00000338898.3_Missense_Mutation_p.A13V|RPGR_ENST00000378505.2_Missense_Mutation_p.A13V|RPGR_ENST00000309513.3_Missense_Mutation_p.A13V|RPGR_ENST00000342811.3_Missense_Mutation_p.A13V|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.A13V			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	13					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGTAAACACAGCACCCGAATC	0.318																																						uc004ded.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(37-39)gCt>gTt		Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.							47	45	45					X																	38182768		2201	4299	6500	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38182768G>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.38C>T	X.37:g.38182768G>A	ENSP00000343671:p.Ala13Val					RPGR_uc004deb.3_Missense_Mutation_p.A13V|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	p.A13V	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			1	206	-			13					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.38C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.054025	0.75960	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	D	0.91459	0.7304	M	0.88377	2.95	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.92237	0.5797	10	0.52906	T	0.07	.	18.2261	0.89917	0.0:0.0:1.0:0.0	.	13;13	E9PE28;Q92834-2	.;.	V	13	ENSP00000343671:A13V;ENSP00000308783:A13V;ENSP00000340208:A13V;ENSP00000322219:A13V;ENSP00000339531:A13V;ENSP00000367766:A13V	ENSP00000308783:A13V	A	-	2	0	RPGR	38067712	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.254000	0.95512	2.342000	0.79632	0.513000	0.50165	GCT		0.318	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		A	38182768	G	A	38182768	3	1	232	1	0	0	0	0	1	0	0	0	13548	971	34	3	4035	3	RPGR	23	38182768	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5695955	38182768	117087792	115	16413											
BHLHB9	80823	broad.mit.edu	37	chrX	102004542	102004543	+	Frame_Shift_Ins	INS	-	-	A																															gcctgtgtatgaaattaatgINSaaaaaaataggcccaaggac																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:102004542_102004543insA	ENST00000372735.1	+	4	1204_1205	c.619_620insA	c.(619-621)gaafs	p.E207fs	BHLHB9_ENST00000457056.1_Frame_Shift_Ins_p.E207fs|BHLHB9_ENST00000447531.1_Frame_Shift_Ins_p.E207fs|BHLHB9_ENST00000448867.1_Frame_Shift_Ins_p.E207fs|BHLHB9_ENST00000361229.4_Frame_Shift_Ins_p.E207fs			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	207					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATTAATGAAAAAAATAGG	0.45																																						uc022cbi.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(619-621)gaafs		Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	80823					cytoplasm|nucleus	binding	g.chrX:102004542_102004543insA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.626dupA	X.37:g.102004549_102004549dupA	ENSP00000361820:p.Glu207fs					BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E207fs	p.E207fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN			0	619_620	+			207					Q9C0G2	Frame_Shift_Ins	INS	ENST00000372735.1	37	c.619_620insA	CCDS14502.1																																																																																				0.45	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		A	102004543	-	A	102004542	7	5	232	1	0	1	1	0	0	0	0	0	1420	1291	45	0	621	0	BHLHB9	23	102004542	Frame_Shift_Ins	INS	-	TCGA-32-2632-01A-01D-1495-08	63821774	102004542	53266018	116	16414											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011591	105011591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatacccaggaatttcaCaggaacagttctttgctgcc	13	10	8	10	0	2	1	1	0	1	1	2	3	2	3	2	2	4	2	2	2	4	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:105011591C>A	ENST00000372582.1	+	11	2754	c.1998C>A	c.(1996-1998)caC>caA	p.H666Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.H666Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	666					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGAATTTCACAGGAACAGTT	0.428																																						uc004elz.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1996-1998)caC>caA		Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.							122	121	121					X																	105011591		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011591C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1998C>A	X.37:g.105011591C>A	ENSP00000361663:p.His666Gln						p.H666Q	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			10	2754	+			666					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1998C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	7.687	0.690198	0.15039	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04917	3.79;3.79;3.53	5.83	0.403	0.16350	.	0.243798	0.36409	N	0.002610	T	0.05410	0.0143	L	0.52759	1.655	0.37901	D	0.931056	B	0.02656	0.0	B	0.04013	0.001	T	0.35798	-0.9774	10	0.56958	D	0.05	.	2.016	0.03498	0.1307:0.332:0.1265:0.4107	.	666	Q9NP60	IRPL2_HUMAN	Q	666;666;271	ENSP00000361663:H666Q;ENSP00000344976:H666Q;ENSP00000445576:H271Q	ENSP00000344976:H666Q	H	+	3	2	IL1RAPL2	104898247	0.070000	0.21116	0.937000	0.37676	0.633000	0.38033	-0.600000	0.05693	-0.628000	0.05582	-1.090000	0.02178	CAC		0.428	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	105011591	C	A	105011591	3	1	232	1	0	0	0	0	1	0	0	0	7662	477	17	5	2036	5	IL1RAPL2	23	105011591	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	3007049	105011591	50258969	117	16415											
COL4A5	1287	broad.mit.edu	37	chrX	107841977	107841977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccccctgggaacccaGgtttaccaggcctcccaggg	7	6	13	15	0	0	0	0	0	0	0	2	2	2	1	6	5	2	1	6	5	2	2	rs104886135		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:107841977G>A	ENST00000361603.2	+	25	2069	c.1825G>A	c.(1825-1827)Ggt>Agt	p.G609S	COL4A5_ENST00000328300.6_Missense_Mutation_p.G609S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	609	Triple-helical region.		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGAACCCAGGTTTACCAGG	0.483									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CM960367	COL4A5	M	rs104886135	c.(1825-1827)Ggt>Agt		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							84	90	88					X																	107841977		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107841977G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1825G>A	X.37:g.107841977G>A	ENSP00000354505:p.Gly609Ser					COL4A5_uc004enz.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	p.G609S	NM_033380	NP_203699	P29400	CO4A5_HUMAN			24	2027	+			609		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1825G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610885	0.87258	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99329	-5.75;-5.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97541	1.0086	10	0.87932	D	0	.	19.251	0.93925	0.0:0.0:1.0:0.0	.	609;217;609	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	S	609	ENSP00000331902:G609S;ENSP00000354505:G609S	ENSP00000331902:G609S	G	+	1	0	COL4A5	107728633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.188000	0.94921	2.498000	0.84270	0.600000	0.82982	GGT		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107841977	G	A	107841977	3	1	232	1	0	0	0	0	1	0	0	0	3694	1000	35	3	1923	3	COL4A5	23	107841977	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2830386	107841977	47428583	118	16416											
KDM1A	23028	broad.mit.edu	37	chr1	23381588	23381589	+	Frame_Shift_Del	DEL	CA	CA	-																															ctgtgcttgtccaccgagttCacagttatttagagcgtcat																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:23381588_23381589delCA	ENST00000356634.3	+	5	906_907	c.757_758delCA	c.(757-759)cacfs	p.H253fs	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Frame_Shift_Del_p.H273fs|KDM1A_ENST00000542151.1_Frame_Shift_Del_p.H273fs|MIR4419A_ENST00000583845.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	253	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTTA	0.371																																						uc001bgi.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(757-759)cacfs		Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23381588_23381589delCA	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.757_758delCA	1.37:g.23381590_23381591delCA	ENSP00000349049:p.His253fs					KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs	p.H253fs	NM_015013	NP_055828	O60341	KDM1A_HUMAN			4	906_907	+			253			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Frame_Shift_Del	DEL	ENST00000356634.3	37	c.757_758delCA	CCDS30627.1																																																																																				0.371	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		-	23381589	CA	-	23381588	7	5	233	1	0	1	0	1	0	0	0	0	8122	826	29	0	839	0	KDM1A	1	23381588	Frame_Shift_Del	DEL	CA	TCGA-32-2634-01A-01D-1495-08		23381588	225869033	1	16417											
TARS2	80222	broad.mit.edu	37	chr1	150471051	150471051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactttggggctctacacCgggccgaagcctctggtggt	5	10	14	12	2	2	1	0	1	2	0	2	2	2	1	3	5	2	1	3	5	2	2	rs201039460		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:150471051C>T	ENST00000369064.3	+	11	1346	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TARS2_ENST00000606933.1_Missense_Mutation_p.R356W|TARS2_ENST00000369054.2_Missense_Mutation_p.R308W|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	438					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTCTACACCGGGCCGAAGC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16532	0		0	False		,,,				2504	0					uc001euq.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1312-1314)Cgg>Tgg		Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Threonine(DB00156)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	53	55	55		1312	4.2	1	1		55	0,8600		0,0,4300	no	missense	TARS2	NM_025150.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	438/719	150471051	1,13005	2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471051C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1312C>T	1.37:g.150471051C>T	ENSP00000358060:p.Arg438Trp					TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.R356W|TARS2_uc009wlt.3_Missense_Mutation_p.R64W|TARS2_uc009wls.3_Missense_Mutation_p.R308W	p.R438W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1319	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		438					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1312C>T	CCDS952.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.19	3.780322	0.70222	2.27E-4	0.0	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.96856	-4.15;-4.15;-4.15	5.11	4.18	0.49190	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.64402	D	0.000001	D	0.98686	0.9559	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99087	1.0839	10	0.87932	D	0	-14.9384	11.6676	0.51383	0.3541:0.6459:0.0:0.0	.	308;163;438	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	W	308;438;163;163	ENSP00000358050:R308W;ENSP00000358060:R438W;ENSP00000358047:R163W	ENSP00000358047:R163W	R	+	1	2	TARS2	148737675	1.000000	0.71417	0.997000	0.53966	0.459000	0.32528	4.400000	0.59709	1.303000	0.44873	0.561000	0.74099	CGG		0.632	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		T	150471051	C	T	150471051	3	4	233	1	0	0	0	0	1	0	0	0	15557	643	23	2	1354	2	TARS2	1	150471051	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	127089463	150471051	98779570	2	16418											
TRIM11	81559	broad.mit.edu	37	chr1	228582635	228582635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcccggagtggagccaagGcccgttccgaggaattgtaa	9	7	15	10	3	0	0	0	0	0	0	2	4	2	3	4	5	1	2	4	5	3	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:228582635G>A	ENST00000284551.6	-	6	1456	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.A268V|RP11-245P10.8_ENST00000602963.1_RNA	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	393	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TGGAGCCAAGGCCCGTTCCGA	0.597																																						uc001hss.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(1177-1179)gCc>gTc		Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.							82	89	87					1																	228582635		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582635G>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1178C>T	1.37:g.228582635G>A	ENSP00000284551:p.Ala393Val					TRIM11_uc010pvx.2_Missense_Mutation_p.A392V	p.A393V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			5	1433	-		Prostate(94;0.0724)	393			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.1178C>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044142	0.36085	.	.	ENSG00000154370	ENST00000284551	T	0.68181	-0.31	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.137928	0.33591	N	0.004742	T	0.51007	0.1649	N	0.14661	0.345	0.80722	D	1	B;B	0.26672	0.156;0.001	B;B	0.30572	0.117;0.02	T	0.47522	-0.9111	10	0.22109	T	0.4	.	15.6526	0.77110	0.0:0.0:1.0:0.0	.	392;393	Q96F44-3;Q96F44	.;TRI11_HUMAN	V	393	ENSP00000284551:A393V	ENSP00000284551:A393V	A	-	2	0	TRIM11	226649258	0.084000	0.21492	0.525000	0.27900	0.009000	0.06853	2.012000	0.40932	2.370000	0.80446	0.609000	0.83330	GCC		0.597	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		A	228582635	G	A	228582635	3	1	233	1	0	0	0	0	1	0	0	0	16484	1203	42	3	232	3	TRIM11	1	228582635	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	78111584	228582635	20667986	3	16419											
COG2	22796	broad.mit.edu	37	chr1	230820980	230820980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatactctgtgtttgtcaatGaggtaagggctggctgtgga	8	13	15	5	0	2	1	1	1	1	0	2	3	2	2	0	4	1	4	0	4	3	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:230820980G>C	ENST00000366669.4	+	12	1493	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	COG2_ENST00000546013.1_Missense_Mutation_p.E149Q|COG2_ENST00000534989.1_Missense_Mutation_p.E401Q|COG2_ENST00000535166.1_Missense_Mutation_p.E344Q|COG2_ENST00000366668.3_Missense_Mutation_p.E460Q	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	460					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTCAATGAGGTAAGGGC	0.423																																						uc001htw.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1378-1380)Gag>Cag		Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.							180	166	171					1																	230820980		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230820980G>C	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1378G>C	1.37:g.230820980G>C	ENSP00000355629:p.Glu460Gln					COG2_uc001htx.3_Missense_Mutation_p.E460Q|COG2_uc010pwc.2_Missense_Mutation_p.E333Q	p.E460Q	NM_007357	NP_031383	Q14746	COG2_HUMAN			11	1529	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	460					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1378G>C	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245393	0.39697	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.47177	1.88;1.87;1.88;1.88;0.85	5.6	5.6	0.85130	.	0.045796	0.85682	D	0.000000	T	0.39600	0.1084	L	0.33339	1.005	0.80722	D	1	P;B	0.37141	0.584;0.172	B;B	0.32149	0.141;0.04	T	0.25950	-1.0117	10	0.42905	T	0.14	-27.1763	19.6087	0.95589	0.0:0.0:1.0:0.0	.	460;460	Q86U99;Q14746	.;COG2_HUMAN	Q	460;344;460;401;149	ENSP00000355629:E460Q;ENSP00000445724:E344Q;ENSP00000355628:E460Q;ENSP00000440349:E401Q;ENSP00000442147:E149Q	ENSP00000355628:E460Q	E	+	1	0	COG2	228887603	1.000000	0.71417	0.958000	0.39756	0.504000	0.33889	9.354000	0.97083	2.639000	0.89480	0.655000	0.94253	GAG		0.423	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		C	230820980	G	C	230820980	3	2	233	1	0	0	0	0	1	0	0	0	3658	1291	45	5	1424	5	COG2	1	230820980	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	2238345	230820980	18429641	4	16420											
THSD7B	80731	broad.mit.edu	37	chr2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatcaaacccggcaggtttCgtgtacaagaagtgatggac	12	10	11	8	2	1	2	1	1	0	1	2	3	1	3	1	3	2	3	1	3	5	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:137814764C>T	ENST00000409968.1	+	3	1092	c.914C>T	c.(913-915)tCg>tTg	p.S305L	THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	305						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(820-822)tCg>tTg		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							31	31	31					2																	137814764		1862	4098	5960	SO:0001583	missense	80731							g.chr2:137814764C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.914C>T	2.37:g.137814764C>T	ENSP00000387145:p.Ser305Leu					THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	p.S274L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	1	821	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.821C>T		.	.	.	.	.	.	.	.	.	.	C	9.636	1.137664	0.21123	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.24350	2.45;2.32;1.93;1.86	5.45	4.57	0.56435	.	0.154834	0.56097	D	0.000023	T	0.15176	0.0366	N	0.22421	0.69	0.29281	N	0.87002	B;B	0.26635	0.155;0.155	B;B	0.23574	0.047;0.047	T	0.15752	-1.0426	10	0.10377	T	0.69	.	11.2412	0.48970	0.0:0.1392:0.7181:0.1427	.	305;274	Q9C0I4;C9JKN6	THS7B_HUMAN;.	L	305;305;274;164	ENSP00000387145:S305L;ENSP00000272643:S305L;ENSP00000413841:S274L;ENSP00000443370:S164L	ENSP00000272643:S305L	S	+	2	0	THSD7B	137531234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.495000	0.73665	1.446000	0.47643	-0.211000	0.12701	TCG		0.363	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	137814764	C	T	137814764	3	4	233	1	0	0	0	0	1	0	0	0	15877	893	31	2	827	2	THSD7B	2	137814764	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		137814764	105384609	5	16421											
OBFC2A	64859	broad.mit.edu	37	chr2	192546717	192546717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacactttatactggaagGggtggtgaacttcaaaaaat	14	11	10	6	0	1	2	1	2	0	0	1	3	1	3	0	4	2	0	0	4	7	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:192546717G>A	ENST00000425611.2	+	3	359	c.276G>A	c.(274-276)agG>agA	p.R92R	NABP1_ENST00000410026.2_Silent_p.R12R|NABP1_ENST00000409510.1_Silent_p.R12R	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	92					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										ATACTGGAAGGGGTGGTGAAC	0.289																																						uc002usx.3																			0				kidney(2)|large_intestine(2)|lung(2)	6						c.(274-276)agG>agA		Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A), transcript variant 1, mRNA.							61	64	63					2																	192546717		2203	4296	6499	SO:0001819	synonymous_variant	64859				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding	g.chr2:192546717G>A	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"single-stranded DNA-binding protein 2", "sensor of single-strand DNA complex subunit B2"	612103	"oligonucleotide/oligosaccharide-binding fold containing 2A"	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.276G>A	2.37:g.192546717G>A						OBFC2A_uc021vuf.1_Non-coding_Transcript|OBFC2A_uc002usw.3_Silent_p.R12R|OBFC2A_uc002usy.3_Non-coding_Transcript|OBFC2A_uc021vug.1_5'Flank	p.R92R	NM_001031716	NP_001241665	Q96AH0	SOSB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)		2	756	+			92					Q658Y8|Q9H5X6	Silent	SNP	ENST00000425611.2	37	c.276G>A	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219531	0.22373	.	.	ENSG00000173559	ENST00000435931	.	.	.	5.76	-3.39	0.04868	.	.	.	.	.	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51741	-0.8667	4	.	.	.	.	9.0969	0.36645	0.5323:0.1007:0.367:0.0	.	.	.	.	E	62	.	.	G	+	2	0	OBFC2A	192254962	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	1.023000	0.30065	-0.291000	0.09012	-0.880000	0.02959	GGG		0.289	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		A	192546717	G	A	192546717	2	1	233	1	0	0	0	0	0	0	0	1	10808	1223	43	3		3	OBFC2A	2	192546717	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	54731953	192546717	50652656	6	16422											
RPE	6120	broad.mit.edu	37	chr2	210881273	210881273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacctcagttgagtatttgGcaccatgggctaatcagata	12	11	10	8	0	2	2	2	1	0	1	2	3	2	2	2	2	1	4	2	2	4	5			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:210881273G>A	ENST00000359429.6	+	4	482	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RPE_ENST00000429921.1_Missense_Mutation_p.A79T|RPE_ENST00000438204.2_Missense_Mutation_p.A61T|RPE_ENST00000411934.2_Missense_Mutation_p.A61T|RPE_ENST00000435437.2_Missense_Mutation_p.A129T|RPE_ENST00000429907.1_Missense_Mutation_p.A61T|RPE_ENST00000445268.1_Missense_Mutation_p.A61T|RPE_ENST00000354506.6_Missense_Mutation_p.A121T|RPE_ENST00000436630.2_Missense_Mutation_p.A79T|RPE_ENST00000452025.1_Missense_Mutation_p.A129T|RPE_ENST00000540255.1_Missense_Mutation_p.A129T|RPE_ENST00000454822.1_Missense_Mutation_p.A79T	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	129					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGAGTATTTGGCACCATGGGC	0.398																																						uc002vdn.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(385-387)Gca>Aca		Homo sapiens ribulose-5-phosphate-3-epimerase (RPE), transcript variant 1, mRNA.							111	106	108					2																	210881273		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210881273G>A		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.385G>A	2.37:g.210881273G>A	ENSP00000352401:p.Ala129Thr					RPE_uc002vdo.3_Missense_Mutation_p.A79T|RPE_uc002vdp.3_Missense_Mutation_p.A76T|RPE_uc010zjf.2_Missense_Mutation_p.A129T|RPE_uc010fup.3_Missense_Mutation_p.A61T|RPE_uc002vdq.3_Missense_Mutation_p.A79T|RPE_uc002vdr.3_Intron	p.A129T	NM_199229	NP_954699	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	3	419	+			129					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.385G>A	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436604	0.62955	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.45	5.45	0.79879	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	N	0.25286	0.73	0.80722	D	1	B;B;B;B	0.14012	0.004;0.009;0.003;0.002	B;B;B;B	0.22152	0.038;0.038;0.009;0.004	T	0.41161	-0.9524	9	0.20519	T	0.43	.	19.2659	0.93985	0.0:0.0:1.0:0.0	.	129;121;129;129	B4E016;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	T	129;79;61;79;79;79;129;79;61;61;61;129;61;61;129;121	.	ENSP00000346501:A121T	A	+	1	0	RPE	210589518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.725000	0.93324	0.655000	0.94253	GCA		0.398	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		A	210881273	G	A	210881273	3	1	233	1	0	0	0	0	1	0	0	0	13544	1203	42	3	457	3	RPE	2	210881273	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	18334556	210881273	32318100	7	16423											
NISCH	11188	broad.mit.edu	37	chr3	52521429	52521440	+	In_Frame_Del	DEL	GAGGAGGAGGAA	GAGGAGGAGGAA	-																															aacagggcgaggaggaggatGaggaggaggaagaagaggag																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr3:52521429_52521440delGAGGAGGAGGAA	ENST00000479054.1	+	17	1993_2004	c.1921_1932delGAGGAGGAGGAA	c.(1921-1932)gaggaggaggaadel	p.EEEE641del	NISCH_ENST00000345716.4_In_Frame_Del_p.EEEE641del			Q9Y2I1	NISCH_HUMAN	nischarin	641	Glu-rich.|Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ggaggaggatgaggaggaggaagaagaggagg	0.651																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1921-1932)gaggaggaggaadel		Homo sapiens nischarin (NISCH), mRNA.																																				SO:0001651	inframe_deletion	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521429_52521440delGAGGAGGAGGAA	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1921_1932delGAGGAGGAGGAA	3.37:g.52521429_52521440delGAGGAGGAGGAA	ENSP00000418232:p.Glu641_Glu644del					NISCH_uc003dee.4_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_Non-coding_Transcript	p.EEEE641del	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	15	2055_2066	+			641			Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	In_Frame_Del	DEL	ENST00000479054.1	37	c.1921_1932delGAGGAGGAGGAA	CCDS33767.1																																																																																				0.651	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		-	52521440	GAGGAGGAGGAA	-	52521429	7	5	233	1	0	1	0	1	0	0	0	0	10432	1291	45	0	1983	0	NISCH	3	52521429	In_Frame_Del	DEL	GAGGAGGAGGAA	TCGA-32-2634-01A-01D-1495-08		52521429	145501001	8	16424											
MAN2B2	23324	broad.mit.edu	37	chr4	6598876	6598876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgggcttctacacgtcccGcagctcactgaaggggctgg	7	7	14	13	3	2	1	1	1	1	0	3	2	3	1	1	4	2	4	1	4	2	2	rs372535950		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:6598876G>A	ENST00000285599.3	+	8	1130	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R314H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	365			R -> C (in dbSNP:rs6858328).		mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TACACGTCCCGCAGCTCACTG	0.632																																						uc003gjf.1																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1093-1095)cGc>cAc		Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.		G	HIS/ARG	0,4406		0,0,2203	90	100	97		1094	2.5	0	4		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAN2B2	NM_015274.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	365/1010	6598876	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6598876G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1094G>A	4.37:g.6598876G>A	ENSP00000285599:p.Arg365His					MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	p.R365H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			7	1130	+			365		R -> C (in dbSNP:rs6858328).			Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1094G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.711526|3.711526	0.68730|0.68730	0.0|0.0	1.16E-4|1.16E-4	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.80033	.|-1.33;-1.33	5.13|5.13	2.46|2.46	0.29980|0.29980	.|Glycoside hydrolase, family 38, central domain (2);	.|0.289069	.|0.36628	.|N	.|0.002483	D|D	0.87034|0.87034	0.6077|0.6077	M|M	0.91140|0.91140	3.18|3.18	0.46849|0.46849	D|D	0.99922|0.99922	.|P;P;D	.|0.56746	.|0.938;0.938;0.977	.|P;P;P	.|0.52554	.|0.494;0.494;0.702	D|D	0.86504|0.86504	0.1805|0.1805	5|10	.|0.66056	.|D	.|0.02	-15.0421|-15.0421	10.053|10.053	0.42228|0.42228	0.2009:0.0:0.7991:0.0|0.2009:0.0:0.7991:0.0	.|.	.|314;365;365	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|H	364|365;314	.|ENSP00000285599:R365H;ENSP00000423129:R314H	.|ENSP00000285599:R365H	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6649777|6649777	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.792000|0.792000	0.44763|0.44763	4.183000|4.183000	0.58317|0.58317	0.187000|0.187000	0.20147|0.20147	0.549000|0.549000	0.68633|0.68633	GCA|CGC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6598876	G	A	6598876	3	1	233	1	0	0	0	0	1	0	0	0	9217	1087	38	1	1124	1	MAN2B2	4	6598876	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		6598876	184555400	9	16425											
KIT	3815	broad.mit.edu	37	chr4	55561826	55561826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttttgagatcctggaTgaaacgaatgagaataagca	15	10	11	5	1	0	3	0	3	0	2	1	8	1	5	1	2	2	1	1	2	4	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:55561826T>A	ENST00000288135.5	+	2	313	c.216T>A	c.(214-216)gaT>gaA	p.D72E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	72	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCTGGATGAAACGAATG	0.463		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(214-216)gaT>gaA		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						111	103	106					4																	55561826		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561826T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.216T>A	4.37:g.55561826T>A	ENSP00000288135:p.Asp72Glu					KIT_uc010igs.3_Missense_Mutation_p.D72E	p.D72E	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	1	303	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		72			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.216T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	1.079	-0.667599	0.03428	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.55234	0.53;0.53	5.2	1.44	0.22558	Immunoglobulin-like fold (1);	1.165840	0.06304	N	0.701394	T	0.34250	0.0891	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.19148	0.007;0.024	T	0.19353	-1.0308	10	0.02654	T	1	.	8.2602	0.31779	0.0:0.321:0.0:0.679	.	72;72	P10721-2;P10721	.;KIT_HUMAN	E	72	ENSP00000288135:D72E;ENSP00000390987:D72E	ENSP00000288135:D72E	D	+	3	2	KIT	55256583	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.035000	0.13797	0.116000	0.18110	-0.250000	0.11733	GAT		0.463	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55561826	T	A	55561826	3	1	233	1	0	0	0	0	1	0	0	0	8329	1461	51	5	222	5	KIT	4	55561826	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	48962950	55561826	135592450	10	16426											
BANK1	55024	broad.mit.edu	37	chr4	102816534	102816534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatattatgagttccagTctcttcaaactgaaatttgt	12	16	5	8	0	2	2	1	2	1	0	4	2	3	2	2	0	2	1	2	0	5	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:102816534T>C	ENST00000322953.4	+	6	1250	c.976T>C	c.(976-978)Tct>Cct	p.S326P	BANK1_ENST00000444316.2_Missense_Mutation_p.S296P|BANK1_ENST00000428908.1_Missense_Mutation_p.S193P|BANK1_ENST00000508653.1_Missense_Mutation_p.S193P|BANK1_ENST00000504592.1_Missense_Mutation_p.S311P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	326	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTTCCAGTCTCTTCAAAC	0.303																																						uc003hvy.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(976-978)Tct>Cct		Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.							81	84	83					4																	102816534		2201	4294	6495	SO:0001583	missense	55024				B cell activation			g.chr4:102816534T>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.976T>C	4.37:g.102816534T>C	ENSP00000320509:p.Ser326Pro					BANK1_uc003hvx.4_Missense_Mutation_p.S311P|BANK1_uc010ill.3_Missense_Mutation_p.S193P|BANK1_uc003hvz.4_Missense_Mutation_p.S296P	p.S326P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	5	1250	+		Hepatocellular(203;0.217)	326			DBB.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.976T>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704112	0.15172	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.18502	2.89;2.89;2.21;2.21;2.89	4.94	0.371	0.16168	DBB domain (1);	1.390810	0.04523	N	0.385036	T	0.11239	0.0274	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.005;0.003;0.003	T	0.32587	-0.9901	10	0.33940	T	0.23	.	1.6861	0.02842	0.1754:0.1059:0.1571:0.5616	.	193;326;311	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	P	311;326;193;193;296	ENSP00000421443:S311P;ENSP00000320509:S326P;ENSP00000412748:S193P;ENSP00000422314:S193P;ENSP00000388817:S296P	ENSP00000320509:S326P	S	+	1	0	BANK1	103035557	0.000000	0.05858	0.003000	0.11579	0.945000	0.59286	-1.052000	0.03503	0.228000	0.21019	0.477000	0.44152	TCT		0.303	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		C	102816534	T	C	102816534	3	2	233	1	0	0	0	0	1	0	0	0	1309	1667	58	4	998	4	BANK1	4	102816534	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	47254708	102816534	88337742	11	16427											
OTUD4	54726	broad.mit.edu	37	chr4	146059760	146059760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggtaggcctggtgcagagGgtacaggtaagaatgtgggg	10	7	19	5	0	0	2	0	0	0	2	0	2	0	2	1	7	2	4	1	7	4	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:146059760G>A	ENST00000447906.2	-	21	2354	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S	OTUD4_ENST00000454497.2_Missense_Mutation_p.P658S|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	723					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGGTGCAGAGGGTACAGGTAA	0.488																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1972-1974)Cct>Tct		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							57	62	60					4																	146059760		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059760G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2167C>T	4.37:g.146059760G>A	ENSP00000395487:p.Pro723Ser						p.P658S	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			20	2110	-	all_hematologic(180;0.151)		722					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1972C>T		.	.	.	.	.	.	.	.	.	.	G	21.5	4.160871	0.78226	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.39056	1.13;1.1	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.58466	0.2124	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55921	-0.8064	10	0.54805	T	0.06	-17.5071	20.3363	0.98740	0.0:0.0:1.0:0.0	.	723;722	G3V0I6;Q01804	.;OTUD4_HUMAN	S	658;723	ENSP00000409279:P658S;ENSP00000395487:P723S	ENSP00000395487:P723S	P	-	1	0	OTUD4	146279210	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.159000	0.77483	2.814000	0.96858	0.563000	0.77884	CCT		0.488	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		A	146059760	G	A	146059760	3	1	233	1	0	0	0	0	1	0	0	0	11314	1232	43	3	1181	3	OTUD4	4	146059760	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	43243226	146059760	45094516	12	16428											
DNAH5	1767	broad.mit.edu	37	chr5	13841119	13841119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggtgacgtctatcaatgTattgagtagctccaggaaag	11	11	12	7	2	2	2	1	2	1	0	3	3	3	3	1	2	1	3	1	2	5	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:13841119T>C	ENST00000265104.4	-	34	5709	c.5605A>G	c.(5605-5607)Aca>Gca	p.T1869A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1869	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTATCAATGTATTGAGTAGC	0.413									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5605-5607)Aca>Gca		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							162	152	155					5																	13841119		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841119T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5605A>G	5.37:g.13841119T>C	ENSP00000265104:p.Thr1869Ala						p.T1869A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5647	-	Lung NSC(4;0.00476)		1869			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5605A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	4.258	0.046843	0.08243	.	.	ENSG00000039139	ENST00000265104	T	0.22945	1.93	5.77	5.77	0.91146	.	0.161473	0.56097	D	0.000036	T	0.22085	0.0532	L	0.52573	1.65	0.40657	D	0.982091	B	0.02656	0.0	B	0.04013	0.001	T	0.08953	-1.0697	10	0.12103	T	0.63	.	11.2002	0.48736	0.0:0.0735:0.0:0.9265	.	1869	Q8TE73	DYH5_HUMAN	A	1869	ENSP00000265104:T1869A	ENSP00000265104:T1869A	T	-	1	0	DNAH5	13894119	1.000000	0.71417	0.020000	0.16555	0.287000	0.27160	4.158000	0.58150	2.203000	0.70933	0.533000	0.62120	ACA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13841119	T	C	13841119	3	2	233	1	0	0	0	0	1	0	0	0	4604	1638	57	4	8453	4	DNAH5	5	13841119	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		13841119	167074141	13	16429											
PRDM9	56979	broad.mit.edu	37	chr5	23522425	23522425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctagaactcaggaagaAggagactgaaagaaagatgt	19	5	11	6	0	1	6	1	1	0	5	1	8	1	7	1	2	2	0	1	2	7	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:23522425A>G	ENST00000296682.3	+	7	703	c.521A>G	c.(520-522)aAg>aGg	p.K174R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	174					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGGAAGAAGGAGACTGAA	0.428										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(520-522)aAg>aGg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							141	144	143					5																	23522425		1900	4138	6038	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522425A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.521A>G	5.37:g.23522425A>G	ENSP00000296682:p.Lys174Arg	HNSCC(3;0.000094)					p.K174R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			6	703	+			174					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.521A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699305	0.48307	.	.	ENSG00000164256	ENST00000296682	T	0.09255	3.0	3.63	2.44	0.29823	SSXRD motif (1);	.	.	.	.	T	0.12518	0.0304	L	0.29908	0.895	0.09310	N	0.999998	P	0.51449	0.945	P	0.51945	0.685	T	0.14811	-1.0459	9	0.62326	D	0.03	-0.6616	5.9847	0.19428	0.8674:0.0:0.1326:0.0	.	174	Q9NQV7	PRDM9_HUMAN	R	174	ENSP00000296682:K174R	ENSP00000296682:K174R	K	+	2	0	PRDM9	23558182	0.261000	0.24063	0.139000	0.22197	0.010000	0.07245	2.030000	0.41108	0.533000	0.28675	0.433000	0.28618	AAG		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23522425	A	G	23522425	3	3	233	1	0	0	0	0	1	0	0	0	12463	72	3	4	543	4	PRDM9	5	23522425	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	9681306	23522425	157392835	14	16430											
PIK3R1	5295	broad.mit.edu	37	chr5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaaaccagaccttatcCagctgagaaagacgagagac	16	6	9	10	1	0	4	0	1	0	4	1	7	1	4	3	0	2	2	3	0	4	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:67591121C>T	ENST00000521381.1	+	13	2330	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.Q209*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.Q302*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.Q272*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.Q572*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.Q572*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.Q572*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	572					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L570_D578del(1)|p.0?(1)|p.?(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.L570_D578del(2)|p.L570_Q572del(2)|p.I571I(1)|p.0?(1)|p.?(1)	large_intestine(2)|lung(1)|ovary(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1714-1716)Cag>Tag		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						144	143	143					5																	67591121		2203	4300	6503	SO:0001587	stop_gained	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591121C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1714C>T	5.37:g.67591121C>T	ENSP00000428056:p.Gln572*	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.Q251*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.Q209*|PIK3R1_uc011crb.2_Nonsense_Mutation_p.Q242*	p.Q572*	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2294	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	572					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	c.1714C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.632822	0.97722	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.797	18.2175	0.89890	0.0:1.0:0.0:0.0	.	.	.	.	X	572;572;572;572;272;302;209	.	ENSP00000274335:Q572X	Q	+	1	0	PIK3R1	67626877	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.609000	0.82925	2.601000	0.87937	0.585000	0.79938	CAG		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67591121	C	T	67591121	4	4	233	1	0	0	0	0	0	1	0	0	11918	595	21	3	1890	3	PIK3R1	5	67591121	Nonsense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	44068696	67591121	113324139	15	16431											
FTMT	94033	broad.mit.edu	37	chr5	121187841	121187841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaccctaccgggccCgccgccggcccctctcgggt	2	5	13	21	6	1	0	0	0	1	0	3	1	2	1	8	4	1	0	8	4	1	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:121187841C>T	ENST00000321339.1	+	1	192	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	61					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTACCGGGCCCGCCGCCGGCC	0.736																																						uc003kss.3																			0		p.G60W(1)|p.P61S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(181-183)ccC>ccT		Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.							13	15	15					5																	121187841		2196	4297	6493	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187841C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.183C>T	5.37:g.121187841C>T							p.P61P	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	0	192	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	61						Silent	SNP	ENST00000321339.1	37	c.183C>T	CCDS4128.1																																																																																				0.736	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		T	121187841	C	T	121187841	2	4	233	1	0	0	0	0	0	0	0	1	6085	639	23	2		2	FTMT	5	121187841	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08	53596720	121187841	59727419	16	16432											
RNF130	55819	broad.mit.edu	37	chr5	179467635	179467635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgtggatcacagcccAgatgatcagcaactgaaaag	13	8	12	8	0	2	3	2	2	0	1	2	4	2	4	1	2	3	2	1	2	3	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:179467635A>T	ENST00000261947.4	-	2	658	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	RNF130_ENST00000522208.2_Missense_Mutation_p.L87Q|RNF130_ENST00000521389.1_Missense_Mutation_p.L87Q	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACAGCCCAGATGATCAGC	0.388																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1																			0		p.H86Y(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(259-261)cTg>cAg		Homo sapiens ring finger protein 130 (RNF130), mRNA.							56	56	56					5																	179467635		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179467635A>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.260T>A	5.37:g.179467635A>T	ENSP00000261947:p.Leu87Gln					RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	p.L87Q	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	667	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	87						Missense_Mutation	SNP	ENST00000261947.4	37	c.260T>A		.	.	.	.	.	.	.	.	.	.	A	7.601	0.672747	0.14776	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.04015	3.74;3.73;3.73	5.63	5.63	0.86233	.	0.215793	0.40385	N	0.001111	T	0.04318	0.0119	N	0.20401	0.57	0.40366	D	0.979299	B;B	0.15719	0.014;0.001	B;B	0.17722	0.019;0.007	T	0.48445	-0.9035	10	0.14656	T	0.56	.	15.8799	0.79195	1.0:0.0:0.0:0.0	.	104;87	Q59EL1;Q86XS8	.;GOLI_HUMAN	Q	87	ENSP00000429509:L87Q;ENSP00000430237:L87Q;ENSP00000261947:L87Q	ENSP00000261947:L87Q	L	-	2	0	RNF130	179400241	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.408000	0.66368	2.137000	0.66172	0.524000	0.50904	CTG		0.388	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		T	179467635	A	T	179467635	3	4	233	1	0	0	0	0	1	0	0	0	13438	188	7	5	1031	5	RNF130	5	179467635	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	58279794	179467635	1447625	17	16433											
PACRG	135138	broad.mit.edu	37	chr6	163235309	163235309	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaacaaaatcgcctGgaaggtaagtcagggcacag	17	4	13	7	1	1	0	1	0	0	0	2	3	1	2	1	4	1	2	1	4	6	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr6:163235309G>A	ENST00000337019.3	+	3	511	c.287G>A	c.(286-288)tGg>tAg	p.W96*	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Nonsense_Mutation_p.W96*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.W96*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	96					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAAATCGCCTGGAAGGTAAGT	0.488																																						uc003qua.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(286-288)tGg>tAg		Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.							84	83	83					6																	163235309		2203	4300	6503	SO:0001587	stop_gained	135138							g.chr6:163235309G>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.287G>A	6.37:g.163235309G>A	ENSP00000337946:p.Trp96*					PACRG_uc003qub.3_Nonsense_Mutation_p.W96*|PACRG_uc003quc.3_Nonsense_Mutation_p.W96*	p.W96*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	2	511	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	96					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	c.287G>A	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338925	0.95783	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	.	.	.	5.52	5.52	0.82312	.	0.121305	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5048	19.434	0.94783	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000337946:W96X	W	+	2	0	PACRG	163155299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.632000	0.90995	2.590000	0.87494	0.563000	0.77884	TGG		0.488	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		A	163235309	G	A	163235309	4	1	233	1	0	0	0	0	0	1	0	0	11370	1357	47	3	293	3	PACRG	6	163235309	Nonsense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		163235309	7879758	18	16434											
IL6	3569	broad.mit.edu	37	chr7	22769182	22769182	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttggagtttgaggtatAcctagagtacctccagaaca	11	13	9	8	0	1	3	0	1	1	2	2	4	2	4	3	2	3	3	3	2	5	7			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:22769182A>T	ENST00000404625.1	+	5	833	c.374A>T	c.(373-375)tAc>tTc	p.Y125F	IL6_ENST00000258743.5_Missense_Mutation_p.Y125F|IL6_ENST00000401630.3_Missense_Mutation_p.Y102F|IL6_ENST00000407492.1_Missense_Mutation_p.Y49F|IL6_ENST00000406575.1_Missense_Mutation_p.Y125F|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401651.1_Missense_Mutation_p.Y49F|IL6_ENST00000420258.2_Missense_Mutation_p.Y179F			P05231	IL6_HUMAN	interleukin 6	125					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	TTTGAGGTATACCTAGAGTAC	0.443																																					Esophageal Squamous(47;342 1214 13936 33513)	uc003svj.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(373-375)tAc>tTc		Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						157	155	155					7																	22769182		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22769182A>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.374A>T	7.37:g.22769182A>T	ENSP00000385675:p.Tyr125Phe					LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	p.Y125F	NM_000600	NP_000591	P05231	IL6_HUMAN			3	490	+			125					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.374A>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376636	0.61735	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000401651;ENST00000258743;ENST00000420258;ENST00000407492;ENST00000401630;ENST00000406575	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.87	3.34	0.38264	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.381577	0.30695	N	0.009078	T	0.48021	0.1477	L	0.52364	1.645	0.09310	N	0.999997	D;P;D	0.76494	0.999;0.954;0.999	D;P;D	0.75020	0.985;0.81;0.983	T	0.24048	-1.0171	10	0.72032	D	0.01	-20.1473	7.0568	0.25104	0.7027:0.1516:0.0:0.1457	.	179;125;125	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	F	125;125;49;125;179;49;102;125	ENSP00000385675:Y125F;ENSP00000405150:Y125F;ENSP00000385718:Y49F;ENSP00000258743:Y125F;ENSP00000405994:Y179F;ENSP00000385043:Y49F;ENSP00000384928:Y102F;ENSP00000385227:Y125F	ENSP00000258743:Y125F	Y	+	2	0	IL6	22735707	0.924000	0.31332	0.094000	0.20943	0.010000	0.07245	2.954000	0.49113	1.135000	0.42183	0.533000	0.62120	TAC		0.443	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		T	22769182	A	T	22769182	3	4	233	1	0	0	0	0	1	0	0	0	7701	391	14	5	388	5	IL6	7	22769182	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08		22769182	136369481	19	16435											
NOD1	10392	broad.mit.edu	37	chr7	30496383	30496383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacaatctccgcatcttcgGccgagaagtagtcattcttc	10	11	7	13	3	4	1	1	0	3	1	7	2	4	1	2	1	0	2	2	1	3	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:30496383G>A	ENST00000222823.4	-	4	680	c.155C>T	c.(154-156)gCc>gTc	p.A52V	NOD1_ENST00000423334.2_Missense_Mutation_p.A52V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	52	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCATCTTCGGCCGAGAAGTA	0.552																																						uc003tav.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(154-156)gCc>gTc		Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.							128	113	118					7																	30496383		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30496383G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.155C>T	7.37:g.30496383G>A	ENSP00000222823:p.Ala52Val					NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_Non-coding_Transcript|NOD1_uc003tay.2_Non-coding_Transcript|NOD1_uc010kvt.2_Non-coding_Transcript|NOD1_uc010kvu.2_Non-coding_Transcript	p.A52V	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			3	678	-			52			CARD.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.155C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923096	0.18056	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.8	-2.68	0.06041	DEATH-like (2);Caspase Recruitment (2);	1.162150	0.06142	N	0.672536	T	0.15003	0.0362	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.34079	-0.9843	10	0.29301	T	0.29	.	5.4426	0.16517	0.2675:0.0:0.4129:0.3196	.	52;52	B4DTU3;Q9Y239	.;NOD1_HUMAN	V	52	ENSP00000222823:A52V;ENSP00000409416:A52V;ENSP00000396046:A52V;ENSP00000395551:A52V;ENSP00000399505:A52V	ENSP00000222823:A52V	A	-	2	0	NOD1	30462908	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.193000	0.17116	-0.408000	0.07565	0.655000	0.94253	GCC		0.552	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			A	30496383	G	A	30496383	3	1	233	1	0	0	0	0	1	0	0	0	10516	1203	42	3	2750	3	NOD1	7	30496383	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	7727201	30496383	128642280	20	16436											
ABCA13	154664	broad.mit.edu	37	chr7	48318026	48318026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcaagatcttgggtcagCtcttcaccttgtaagagaat	12	12	8	9	0	5	2	3	0	2	2	5	3	5	2	1	1	1	2	1	1	4	4	rs373658653		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:48318026C>G	ENST00000435803.1	+	18	7259	c.7235C>G	c.(7234-7236)gCt>gGt	p.A2412G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2412					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTGGGTCAGCTCTTCACCTT	0.383																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7234-7236)gCt>gGt		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.		C	GLY/ALA	0,3700		0,0,1850	71	68	69		7235	1.9	0	7		69	1,8195		0,1,4097	no	missense	ABCA13	NM_152701.3	60	0,1,5947	GG,GC,CC		0.0122,0.0,0.0084	probably-damaging	2412/5059	48318026	1,11895	1850	4098	5948	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318026C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7235C>G	7.37:g.48318026C>G	ENSP00000411096:p.Ala2412Gly					ABCA13_uc010kys.1_5'Flank	p.A2412G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	7259	+			2412					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7235C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183878	0.38609	0.0	1.22E-4	ENSG00000179869	ENST00000435803	T	0.61510	0.1	5.1	1.87	0.25490	.	0.659026	0.13324	N	0.396423	T	0.40222	0.1108	L	0.27053	0.805	0.09310	N	1	P	0.46987	0.888	B	0.42163	0.378	T	0.30707	-0.9969	10	0.72032	D	0.01	.	3.2331	0.06755	0.0:0.4895:0.2236:0.2868	.	2412	Q86UQ4	ABCAD_HUMAN	G	2412	ENSP00000411096:A2412G	ENSP00000411096:A2412G	A	+	2	0	ABCA13	48288572	0.001000	0.12720	0.004000	0.12327	0.210000	0.24377	-0.215000	0.09279	0.565000	0.29255	0.655000	0.94253	GCT		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48318026	C	G	48318026	3	3	233	1	0	0	0	0	1	0	0	0	31	797	28	5	7134	5	ABCA13	7	48318026	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	17821643	48318026	110820637	21	16437											
RABGEF1	27342	broad.mit.edu	37	chr7	66240358	66240358	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaattcttcagtgcatcTtccagggtcggatcaaagaa	14	10	9	8	1	4	2	2	0	2	2	6	3	5	3	1	2	1	1	1	2	4	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:66240358T>C	ENST00000284957.5	+	3	401	c.324T>C	c.(322-324)tcT>tcC	p.S108S	RABGEF1_ENST00000437078.2_Silent_p.S122S|KCTD7_ENST00000380828.2_Silent_p.S148S|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Silent_p.S121S|KCTD7_ENST00000451741.2_Silent_p.S108S|KCTD7_ENST00000510829.2_Silent_p.S108S|RABGEF1_ENST00000450873.2_Silent_p.S108S			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	286					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAGTGCATCTTCCAGGGTCG	0.463																																						uc003tvf.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27								Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							66	64	65					7																	66240358		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240358T>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.324T>C	7.37:g.66240358T>C						RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Silent_p.S108S|RABGEF1_uc010lag.3_Silent_p.S108S|RABGEF1_uc011kee.2_Silent_p.S122S|RABGEF1_uc003tvi.3_5'UTR		NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			5		+								B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37		CCDS5535.1																																																																																				0.463	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		C	66240358	T	C	66240358	2	2	233	1	0	0	0	0	0	0	0	1	12966	1596	56	4		4	RABGEF1	7	66240358	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	17922332	66240358	92898305	22	16438											
SEMA3C	10512	broad.mit.edu	37	chr7	80430136	80430136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtttccagcagaaacAcatcctctataaaaaggaaa	18	9	5	9	0	2	1	1	0	1	1	4	2	4	2	2	1	2	2	2	1	7	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:80430136A>T	ENST00000265361.3	-	10	1484	c.923T>A	c.(922-924)gTg>gAg	p.V308E	SEMA3C_ENST00000544525.1_Missense_Mutation_p.V326E|SEMA3C_ENST00000536800.1_Missense_Mutation_p.V160E|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V308E	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	308	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCAGAAACACATCCTCTAT	0.279																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(976-978)gTg>gAg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							77	79	78					7																	80430136		2203	4292	6495	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80430136A>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.923T>A	7.37:g.80430136A>T	ENSP00000265361:p.Val308Glu					SEMA3C_uc003uhj.3_Missense_Mutation_p.V308E|SEMA3C_uc011kgx.1_Missense_Mutation_p.V160E	p.V326E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			9	1056	-			308			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.977T>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848752	0.91277	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.052947	0.85682	D	0.000000	T	0.52757	0.1754	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.986;0.992	T	0.64952	-0.6286	10	0.87932	D	0	.	16.2736	0.82632	1.0:0.0:0.0:0.0	.	160;326;308	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	E	308;308;326;160	ENSP00000265361:V308E;ENSP00000411193:V308E;ENSP00000445649:V326E;ENSP00000438258:V160E	ENSP00000265361:V308E	V	-	2	0	SEMA3C	80268072	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.010000	0.93611	2.247000	0.74100	0.477000	0.44152	GTG		0.279	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		T	80430136	A	T	80430136	3	4	233	1	0	0	0	0	1	0	0	0	14026	159	6	5	1368	5	SEMA3C	7	80430136	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	14189778	80430136	78708527	23	16439											
CACNA2D1	781	broad.mit.edu	37	chr7	81591256	81591256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accactgaatgatttactgtCgttatcgaagaaatactggg	13	12	9	7	2	0	3	0	2	0	1	2	4	0	3	1	1	2	1	1	1	6	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:81591256C>T	ENST00000356253.5	-	36	3211	c.2956G>A	c.(2956-2958)Gac>Aac	p.D986N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D974N|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D186N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	986					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GATTTACTGTCGTTATCGAAG	0.418																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2920-2922)Gac>Aac		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						130	118	122					7																	81591256		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591256C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2956G>A	7.37:g.81591256C>T	ENSP00000348589:p.Asp986Asn					CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	p.D974N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			35	3176	-			986					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2920G>A		.	.	.	.	.	.	.	.	.	.	C	11.88	1.771000	0.31320	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.71579	-0.58;-0.58;-0.58	5.19	5.19	0.71726	.	0.151545	0.64402	D	0.000018	T	0.55305	0.1912	N	0.20986	0.625	0.37435	D	0.914179	B;B	0.27679	0.185;0.003	B;B	0.24006	0.05;0.002	T	0.56511	-0.7967	10	0.19590	T	0.45	-27.0591	14.3848	0.66938	0.0:0.9262:0.0:0.0738	.	186;974	B7Z658;P54289-2	.;.	N	974;993;986;186	ENSP00000349320:D974N;ENSP00000348589:D986N;ENSP00000443124:D186N	ENSP00000284088:D993N	D	-	1	0	CACNA2D1	81429192	0.988000	0.35896	0.830000	0.32933	0.810000	0.45777	2.319000	0.43788	2.591000	0.87537	0.650000	0.86243	GAC		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81591256	C	T	81591256	3	4	233	1	0	0	0	0	1	0	0	0	2548	884	31	2	371	2	CACNA2D1	7	81591256	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	1161120	81591256	77547407	24	16440											
TES	26136	broad.mit.edu	37	chr7	115889244	115889244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaatgttatgatattgaCgaatccagttgctgccaaga	13	11	9	8	2	0	3	0	2	0	1	1	4	1	3	2	0	2	4	2	0	5	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:115889244C>T	ENST00000358204.4	+	3	499	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TES_ENST00000485009.1_3'UTR|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|TES_ENST00000393481.2_Missense_Mutation_p.T86M|AC002066.1_ENST00000446355.2_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	95	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T95M(2)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATGATATTGACGAATCCAGTT	0.393																																						uc003vho.3																			2	Substitution - Missense(2)	p.T95M(3)	endometrium(2)	endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(283-285)aCg>aTg		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							128	121	123					7																	115889244		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889244C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.284C>T	7.37:g.115889244C>T	ENSP00000350937:p.Thr95Met					TES_uc011kmx.2_Missense_Mutation_p.T95M|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.T86M|TES_uc003vhp.3_Missense_Mutation_p.T86M|TES_uc022aki.1_Non-coding_Transcript	p.T95M	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	499	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	95			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.284C>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175348	0.78564	.	.	ENSG00000135269	ENST00000358204;ENST00000455989;ENST00000257721;ENST00000393481	D;D;D	0.86497	-2.13;-2.13;-2.13	5.33	5.33	0.75918	PET domain (2);	0.000000	0.64402	D	0.000002	D	0.92283	0.7552	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.68621	0.959;0.903	D	0.92759	0.6222	10	0.72032	D	0.01	-9.4563	16.4069	0.83677	0.0:0.8687:0.1313:0.0	.	95;95	B7Z5L5;Q9UGI8	.;TES_HUMAN	M	95;10;95;86	ENSP00000350937:T95M;ENSP00000413002:T10M;ENSP00000377121:T86M	ENSP00000257721:T95M	T	+	2	0	TES	115676480	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.266000	0.65525	2.649000	0.89929	0.650000	0.86243	ACG		0.393	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		T	115889244	C	T	115889244	3	4	233	1	0	0	0	0	1	0	0	0	15762	536	19	1	294	1	TES	7	115889244	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	34297988	115889244	43249419	25	16441											
WDYHV1	55093	broad.mit.edu	37	chr8	124440173	124440173	+	Frame_Shift_Del	DEL	T	T	-																															ttttatttcagtgaagaaaaTatttggaagctctgtgaata																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr8:124440173delT	ENST00000287387.2	+	2	218	c.93delT	c.(91-93)aatfs	p.N31fs	WDYHV1_ENST00000518125.1_5'Flank|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_5'UTR|WDYHV1_ENST00000523356.1_Frame_Shift_Del_p.N31fs	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	31					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GTGAAGAAAATATTTGGAAGC	0.294																																						uc003yqn.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(91-93)aatfs		Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.							108	125	119					8																	124440173		2203	4300	6503	SO:0001589	frameshift_variant	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124440173delT	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 32"	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.93delT	8.37:g.124440173delT	ENSP00000287387:p.Asn31fs					WDYHV1_uc011lij.1_5'UTR	p.N31fs	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			1	218	+			31					B4DE68|Q9NW95	Frame_Shift_Del	DEL	ENST00000287387.2	37	c.93delT	CCDS6344.1																																																																																				0.294	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		-	124440173	T	-	124440173	7	5	233	1	0	1	0	1	0	0	0	0	17340	1403	49	0	99	0	WDYHV1	8	124440173	Frame_Shift_Del	DEL	T	TCGA-32-2634-01A-01D-1495-08		124440173	21923849	26	16442											
PTEN	5728	broad.mit.edu	37	chr10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaacccttttgtgaaGatcttgaccaatggctaagt	12	14	7	8	0	2	3	1	2	1	1	2	3	2	3	2	1	1	1	2	1	5	5	rs57374291		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:89692835G>T	ENST00000371953.3	+	5	1676	c.319G>T	c.(319-321)Gat>Tat	p.D107Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		D -> Y (in BRRS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(4)	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(319-321)Gat>Tat		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							118	109	112					10																	89692835		2203	4297	6500	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692835G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.319G>T	10.37:g.89692835G>T	ENSP00000361021:p.Asp107Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D107Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1351	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.319G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714715	0.89112	.	.	ENSG00000171862	ENST00000371953	D	0.86297	-2.1	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95560	0.8628	9	.	.	.	-8.2539	18.4584	0.90729	0.0:0.0:1.0:0.0	.	107	P60484	PTEN_HUMAN	Y	107	ENSP00000361021:D107Y	.	D	+	1	0	PTEN	89682815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	GAT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692835	G	T	89692835	3	4	233	1	0	0	0	0	1	0	0	0	12738	942	33	5	337	5	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		89692835	45841912	27	16443											
NFKB2	4791	broad.mit.edu	37	chr10	104158521	104158521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaggtgcagcggaagcgGaggaaggccttgcccacctt	10	5	16	10	2	0	1	0	0	0	1	0	5	0	4	3	5	4	1	3	5	3	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:104158521G>T	ENST00000369966.3	+	12	1267	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R	NFKB2_ENST00000428099.1_Silent_p.R339R|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.R339R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	339	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AGCGGAAGCGGAGGAAGGCCT	0.637			T	IGH@	B-NHL																																	uc001kvb.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(1015-1017)cgG>cgT		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.							31	33	33					10																	104158521		1960	4144	6104	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104158521G>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1017G>T	10.37:g.104158521G>T						NFKB2_uc001kva.3_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.3_Silent_p.R339R|NFKB2_uc009xxc.3_Silent_p.R339R	p.R339R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	11	1282	+		Colorectal(252;0.00957)	339			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.1017G>T	CCDS41564.1																																																																																				0.637	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104158521	G	T	104158521	2	4	233	1	0	0	0	0	0	0	0	1	10376	1161	41	5		5	NFKB2	10	104158521	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	14465686	104158521	31376226	28	16444											
OR51L1	119682	broad.mit.edu	37	chr11	5020755	5020755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctctctcacgccttctgTttgcaccaggatgttctaag	6	13	8	14	1	4	0	1	0	3	0	5	1	4	1	3	1	1	3	3	1	1	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:5020755T>C	ENST00000321543.1	+	1	543	c.543T>C	c.(541-543)tgT>tgC	p.C181C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCCTTCTGTTTGCACCAGG	0.473																																						uc010qyu.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(541-543)tgT>tgC		Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.							225	190	202					11																	5020755		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020755T>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.543T>C	11.37:g.5020755T>C							p.C181C	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	543	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	181					Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.543T>C	CCDS31369.1																																																																																				0.473	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		C	5020755	T	C	5020755	2	2	233	1	0	0	0	0	0	0	0	1	11102	1731	60	4		4	OR51L1	11	5020755	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08		5020755	129985761	29	16445											
OR4D6	219983	broad.mit.edu	37	chr11	59225156	59225156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctctccacgtgcacGtcccacatgctggtggtgac	7	8	11	15	2	1	1	0	1	1	0	3	1	2	1	3	3	2	2	3	3	1	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59225156G>A	ENST00000300127.2	+	1	746	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCACGTGCACGTCCCACATGC	0.557																																						uc010rku.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(721-723)acG>acA		Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.							118	106	110					11																	59225156		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225156G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.723G>A	11.37:g.59225156G>A							p.T241T	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			0	723	+			241					B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.723G>A	CCDS31562.1																																																																																				0.557	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		A	59225156	G	A	59225156	2	1	233	1	0	0	0	0	0	0	0	1	11058	1132	40	1		1	OR4D6	11	59225156	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	54204401	59225156	75781360	30	16446											
OR4D11	219986	broad.mit.edu	37	chr11	59271382	59271382	+	Missense_Mutation	SNP	A	A	T																															acctccttggtggggcagacAttttttctctctctgtgatg																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271382A>T	ENST00000313253.1	+	1	334	c.334A>T	c.(334-336)Att>Ttt	p.I112F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGCAGACATTTTTTCTCT	0.473																																						uc001noa.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(334-336)Att>Ttt		Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.							174	163	166					11																	59271382		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271382A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.334A>T	11.37:g.59271382A>T	ENSP00000320077:p.Ile112Phe						p.I112F	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			0	334	+			112						Missense_Mutation	SNP	ENST00000313253.1	37	c.334A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	a	16.67	3.186439	0.57909	.	.	ENSG00000176200	ENST00000313253	T	0.00397	7.57	5.44	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.257571	0.27415	N	0.019469	T	0.00356	0.0011	N	0.20530	0.585	0.30523	N	0.768207	P	0.41910	0.764	P	0.52957	0.714	T	0.53739	-0.8396	10	0.87932	D	0	-17.4389	9.0505	0.36374	0.8437:0.0:0.1563:0.0	.	112	Q8NGI4	OR4DB_HUMAN	F	112	ENSP00000320077:I112F	ENSP00000320077:I112F	I	+	1	0	OR4D11	59027958	0.000000	0.05858	0.998000	0.56505	0.856000	0.48823	-1.689000	0.01923	0.909000	0.36697	0.455000	0.32223	ATT		0.473	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		T	59271382	A	T	59271382	3	4	233	1	0	0	0	0	1	0	0	0	11055	217	8	5	336	5	OR4D11	11	59271382	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	46226	59271382	75735134	31	16447	20	2									
OR4D11	219986	broad.mit.edu	37	chr11	59271391	59271391	+	Missense_Mutation	SNP	C	C	G																															gtggggcagacattttttctCtctctgtgatggcgtttgac																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271391C>G	ENST00000313253.1	+	1	343	c.343C>G	c.(343-345)Ctc>Gtc	p.L115V		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTTTTTCTCTCTCTGTGAT	0.488																																						uc001noa.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(343-345)Ctc>Gtc		Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.							169	158	161					11																	59271391		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271391C>G	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.343C>G	11.37:g.59271391C>G	ENSP00000320077:p.Leu115Val						p.L115V	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			0	343	+			115						Missense_Mutation	SNP	ENST00000313253.1	37	c.343C>G	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	c	15.87	2.961817	0.53400	.	.	ENSG00000176200	ENST00000313253	T	0.06449	3.3	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000382	T	0.40886	0.1135	H	0.96970	3.915	0.41648	D	0.989117	D	0.89917	1.0	D	0.91635	0.999	T	0.61048	-0.7141	10	0.87932	D	0	-53.2946	17.8283	0.88673	0.0:1.0:0.0:0.0	.	115	Q8NGI4	OR4DB_HUMAN	V	115	ENSP00000320077:L115V	ENSP00000320077:L115V	L	+	1	0	OR4D11	59027967	0.930000	0.31532	1.000000	0.80357	0.671000	0.39405	2.008000	0.40893	2.554000	0.86153	0.557000	0.71058	CTC		0.488	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		G	59271391	C	G	59271391	3	3	233	1	0	0	0	0	1	0	0	0	11055	913	32	5	345	5	OR4D11	11	59271391	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	9	59271391	75735125	32	16448	20	2									
CHRDL2	25884	broad.mit.edu	37	chr11	74414523	74414523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctccccgtgggagtacGtcttcccgccatgcacacag	8	7	9	17	3	1	0	0	0	1	0	3	1	3	1	5	1	2	2	5	1	1	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:74414523G>A	ENST00000376332.3	-	8	1269	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.T258M	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	258	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GTGGGAGTACGTCTTCCCGCC	0.657																																						uc001ovh.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(772-774)aCg>aTg		Homo sapiens chordin-like 2 (CHRDL2), mRNA.							25	24	24					11																	74414523		2199	4293	6492	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74414523G>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.773C>T	11.37:g.74414523G>A	ENSP00000365510:p.Thr258Met					CHRDL2_uc001ovg.3_Missense_Mutation_p.T142M|CHRDL2_uc001ovi.3_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	p.T258M	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN			7	1026	-	Hepatocellular(1;0.098)		258			VWFC 3.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.773C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.680117|4.680117	0.88542|0.88542	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000525413|ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519	.|T;T	.|0.71934	.|-0.61;-0.61	5.62|5.62	5.62|5.62	0.85841|0.85841	.|von Willebrand factor, type C (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82070|0.82070	0.4957|0.4957	L|L	0.60957|0.60957	1.885|1.885	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.82376|0.82376	-0.0488|-0.0488	5|10	.|0.56958	.|D	.|0.05	-12.5048|-12.5048	17.1513|17.1513	0.86779|0.86779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|258;258	.|Q6WN34;Q6WN34-2	.|CRDL2_HUMAN;.	C|M	58|258;258;144;142	.|ENSP00000263671:T258M;ENSP00000365510:T258M	.|ENSP00000263671:T258M	R|T	-|-	1|2	0|0	CHRDL2|CHRDL2	74092171|74092171	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.934000|0.934000	0.57294|0.57294	8.062000|8.062000	0.89475|0.89475	2.645000|2.645000	0.89757|0.89757	0.462000|0.462000	0.41574|0.41574	CGT|ACG		0.657	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			A	74414523	G	A	74414523	3	1	233	1	0	0	0	0	1	0	0	0	3374	1145	40	1	602	1	CHRDL2	11	74414523	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	15143132	74414523	60591993	33	16449											
EXPH5	23086	broad.mit.edu	37	chr11	108383232	108383232	+	Frame_Shift_Del	DEL	C	C	-																															tttgatttgcttcaatgaggCtcctgtgatcactggtgggt																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:108383232delC	ENST00000265843.4	-	6	3112	c.3002delG	c.(3001-3003)agcfs	p.S1001fs	EXPH5_ENST00000443411.1_Frame_Shift_Del_p.S813fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.S925fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.S994fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1001					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCAATGAGGCTCCTGTGATC	0.363																																						uc001pkk.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3001-3003)agcfs		Homo sapiens exophilin 5 (EXPH5), mRNA.							101	92	95					11																	108383232		2201	4298	6499	SO:0001589	frameshift_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383232delC		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3002delG	11.37:g.108383232delC	ENSP00000265843:p.Ser1001fs					EXPH5_uc010rvz.2_Frame_Shift_Del_p.S845fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.S813fs	p.S1001fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	5	3113	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1001					Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	c.3002delG	CCDS8341.1																																																																																				0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		-	108383232	C	-	108383232	7	5	233	1	0	1	0	1	0	0	0	0	5322	797	28	0	2971	0	EXPH5	11	108383232	Frame_Shift_Del	DEL	C	TCGA-32-2634-01A-01D-1495-08	33968709	108383232	26623284	34	16450											
SIK2	23235	broad.mit.edu	37	chr11	111590592	111590592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatggagacctccattgacGaagggctggagacagaagga	13	6	15	7	1	0	5	0	2	0	3	1	9	1	6	2	4	0	1	2	4	2	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:111590592G>A	ENST00000304987.3	+	10	1533	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	454					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCCATTGACGAAGGGCTGGA	0.587																																						uc001plt.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1360-1362)Gaa>Aaa		Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.							87	63	71					11																	111590592		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111590592G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1360G>A	11.37:g.111590592G>A	ENSP00000305976:p.Glu454Lys						p.E454K	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			9	1478	+			454					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1360G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	37	6.151499	0.97329	.	.	ENSG00000170145	ENST00000304987	D	0.87412	-2.25	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93025	0.6443	10	0.62326	D	0.03	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	454	Q9H0K1	SIK2_HUMAN	K	454	ENSP00000305976:E454K	ENSP00000305976:E454K	E	+	1	0	SIK2	111095802	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	GAA		0.587	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		A	111590592	G	A	111590592	3	1	233	1	0	0	0	0	1	0	0	0	14318	1059	37	2	1398	2	SIK2	11	111590592	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	3207360	111590592	23415924	35	16451											
ZBTB44	29068	broad.mit.edu	37	chr11	130130851	130130851	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactctgagatgcactgacAggctgggacacttcctcatg	10	9	11	11	0	2	2	1	2	1	1	3	5	3	3	1	2	2	2	1	2	1	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:130130851A>T	ENST00000357899.4	-	2	1190	c.918T>A	c.(916-918)ccT>ccA	p.P306P	ZBTB44_ENST00000525842.1_Silent_p.P306P|ZBTB44_ENST00000397753.1_Silent_p.P306P|ZBTB44_ENST00000530205.1_Silent_p.P306P			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ATGCACTGACAGGCTGGGACA	0.473																																						uc001qga.3																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(916-918)ccT>ccA		Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.							181	178	179					11																	130130851		2027	4192	6219	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130130851A>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.918T>A	11.37:g.130130851A>T						ZBTB44_uc001qgb.4_Silent_p.P306P|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Silent_p.P306P|ZBTB44_uc001qfz.3_Silent_p.P306P	p.P306P	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	1	1312	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	306					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.918T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.707|7.707	0.694338|0.694338	0.15039|0.15039	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	5.23|5.23	-0.0632|-0.0632	0.13778|0.13778	.|.	.|.	.|.	.|.	.|.	T|T	0.51075|0.51075	0.1653|0.1653	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34925|0.34925	-0.9809|-0.9809	4|4	.|.	.|.	.|.	.|.	5.8188|5.8188	0.18516|0.18516	0.6229:0.0:0.2655:0.1116|0.6229:0.0:0.2655:0.1116	.|.	.|.	.|.	.|.	S|Q	303|160	.|.	.|.	C|L	-|-	1|2	0|0	ZBTB44|ZBTB44	129636061|129636061	0.218000|0.218000	0.23608|0.23608	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	-0.243000|-0.243000	0.08915|0.08915	-0.278000|-0.278000	0.09180|0.09180	0.460000|0.460000	0.39030|0.39030	TGT|CTG		0.473	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		T	130130851	A	T	130130851	2	4	233	1	0	0	0	0	0	0	0	1	17542	175	7	5		5	ZBTB44	11	130130851	Silent	SNP	A	TCGA-32-2634-01A-01D-1495-08	18540259	130130851	4875665	36	16452											
ANO2	57101	broad.mit.edu	37	chr12	5672695	5672695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtggggatgtctggaaTcatccagtccacgaggacgc	8	8	14	11	3	2	0	1	0	1	0	5	4	5	3	3	4	0	0	3	4	1	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:5672695T>A	ENST00000356134.5	-	27	2841	c.2770A>T	c.(2770-2772)Att>Ttt	p.I924F	ANO2_ENST00000327087.8_Missense_Mutation_p.I923F|ANO2_ENST00000546188.1_Missense_Mutation_p.I924F	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	928					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGTCTGGAATCATCCAGTCC	0.542																																						uc001qnm.2																			0		p.M923I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2767-2769)Att>Ttt		Homo sapiens anoctamin 2 (ANO2), mRNA.							85	80	82					12																	5672695		1971	4166	6137	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5672695T>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2770A>T	12.37:g.5672695T>A	ENSP00000348453:p.Ile924Phe						p.I923F	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			25	2839	-			928					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2767A>T		.	.	.	.	.	.	.	.	.	.	T	25.8	4.671531	0.88348	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000543568	T;T;T	0.71698	-0.59;-0.59;-0.59	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	H	0.94771	3.58	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91067	0.4890	10	0.87932	D	0	.	13.8	0.63194	0.0:0.0:0.0:1.0	.	923	Q9NQ90-3	.	F	923;924;924;928;11	ENSP00000314048:I923F;ENSP00000348453:I924F;ENSP00000440981:I924F	ENSP00000314048:I923F	I	-	1	0	ANO2	5542956	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.990000	0.88215	1.919000	0.55581	0.454000	0.30748	ATT		0.542	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5672695	T	A	5672695	3	1	233	1	0	0	0	0	1	0	0	0	697	1435	50	5	233	5	ANO2	12	5672695	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		5672695	128179200	37	16453											
PLEKHG6	55200	broad.mit.edu	37	chr12	6436676	6436676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacccccaagctcctcaaCgccgaagcgcccccgaactg	9	3	8	21	5	1	0	1	0	0	0	2	3	2	0	7	0	4	1	7	0	4	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:6436676C>T	ENST00000396988.3	+	15	2157	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R173C|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R611C|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R643C	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	643						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCTCCTCAACGCCGAAGCGC	0.642																																						uc001qnr.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1927-1929)Cgc>Tgc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.							18	21	20					12																	6436676		2198	4293	6491	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436676C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1927C>T	12.37:g.6436676C>T	ENSP00000380185:p.Arg643Cys					PLEKHG6_uc010sew.2_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.2_Missense_Mutation_p.R611C	p.R643C	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			14	2075	+			643					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.1927C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873512	0.72180	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.69306	-0.28;-0.28;-0.39	5.56	4.59	0.56863	.	0.157867	0.40728	N	0.001037	T	0.72622	0.3483	L	0.36672	1.1	0.45962	D	0.998783	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72462	-0.4286	10	0.49607	T	0.09	-23.8914	12.3852	0.55328	0.1792:0.8208:0.0:0.0	.	611;643	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	C	643;643;611;173	ENSP00000011684:R643C;ENSP00000380185:R643C;ENSP00000393194:R611C	ENSP00000011684:R643C	R	+	1	0	PLEKHG6	6306937	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	2.378000	0.44309	2.625000	0.88918	0.555000	0.69702	CGC		0.642	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		T	6436676	C	T	6436676	3	4	233	1	0	0	0	0	1	0	0	0	12074	536	19	1	2027	1	PLEKHG6	12	6436676	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	763981	6436676	127415219	38	16454											
HCFC2	29915	broad.mit.edu	37	chr12	104461817	104461817	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatagcttctctttataTggtaacaaatgctatttgtt	11	17	7	6	0	1	0	0	0	1	0	2	1	1	1	0	2	3	4	0	2	6	9			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:104461817T>C	ENST00000229330.4	+	3	509	c.405T>C	c.(403-405)taT>taC	p.Y135Y		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	135					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCTTTATATGGTAACAAAT	0.418																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(403-405)taT>taC		Homo sapiens host cell factor C2 (HCFC2), mRNA.							210	201	204					12																	104461817		2203	4300	6503	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104461817T>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.405T>C	12.37:g.104461817T>C						HCFC2_uc009zul.3_Non-coding_Transcript	p.Y135Y	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			2	508	+			135					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.405T>C	CCDS9097.1																																																																																				0.418	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		C	104461817	T	C	104461817	2	2	233	1	0	0	0	0	0	0	0	1	6993	1471	51	4		4	HCFC2	12	104461817	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	98025141	104461817	29390078	39	16455											
RB1	5925	broad.mit.edu	37	chr13	49039230	49039230	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgaaaacaaatattttgCagtatgcttccaccagggta	14	11	8	8	0	0	1	0	1	0	0	1	2	1	1	2	1	3	4	2	1	6	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:49039230C>T	ENST00000267163.4	+	22	2446	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	770	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.L769fs*2(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAATATTTTGCAGTATGCTTC	0.323		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		28	Whole gene deletion(15)|Unknown(12)|Complex - frameshift(1)	p.0?(15)|p.?(12)|p.L769fs*2(2)|p.Q770fs*24(1)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM030516	RB1	M		c.(2308-2310)Cag>Tag		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						73	75	75					13																	49039230		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039230C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2308C>T	13.37:g.49039230C>T	ENSP00000267163:p.Gln770*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q770*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	21	2474	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	770			Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2308C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.087254	0.98648	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.3432	0.94352	0.0:1.0:0.0:0.0	.	.	.	.	X	749;770	.	ENSP00000267163:Q770X	Q	+	1	0	RB1	47937231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.593000	0.87608	0.591000	0.81541	CAG		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	49039230	C	T	49039230	4	4	233	1	0	0	0	0	0	1	0	0	13098	711	25	3	2394	3	RB1	13	49039230	Nonsense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		49039230	66130648	40	16456											
KCNRG	283518	broad.mit.edu	37	chr13	50589726	50589726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcttctcgtttggcaCgcatgttagatggcagagac	7	13	11	10	2	1	2	0	0	1	2	3	3	2	2	1	2	1	6	1	2	1	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:50589726C>T	ENST00000312942.1	+	1	337	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Missense_Mutation_p.R33C|TRIM13_ENST00000478111.1_Intron	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	33	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCGTTTGGCACGCATGTTAGA	0.408																																						uc001vdu.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(97-99)Cgc>Tgc		Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.							167	168	168					13																	50589726		2203	4300	6503	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50589726C>T		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.97C>T	13.37:g.50589726C>T	ENSP00000324191:p.Arg33Cys					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.R33C	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	0	337	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	33			BTB.		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.97C>T	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	C	2.915	-0.224490	0.06061	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.78126	-1.15;-1.15	5.84	-1.36	0.09085	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.696179	0.13891	N	0.355601	T	0.71169	0.3308	M	0.77486	2.375	0.09310	N	0.999999	B;B	0.17268	0.021;0.004	B;B	0.10450	0.005;0.001	T	0.60737	-0.7204	10	0.52906	T	0.07	.	3.3571	0.07173	0.2765:0.464:0.0941:0.1654	.	33;33	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	C	33	ENSP00000353661:R33C;ENSP00000324191:R33C	ENSP00000324191:R33C	R	+	1	0	KCNRG	49487727	0.540000	0.26410	0.000000	0.03702	0.167000	0.22549	-0.168000	0.09925	-0.713000	0.04981	-0.940000	0.02684	CGC		0.408	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			T	50589726	C	T	50589726	3	4	233	1	0	0	0	0	1	0	0	0	8087	536	19	1	99	1	KCNRG	13	50589726	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	1550496	50589726	64580152	41	16457											
TM9SF1	10548	broad.mit.edu	37	chr14	24661549	24661549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacatgcccagcagtgcCatgacaataatgcctgcagg	12	8	10	11	0	0	2	0	2	0	0	0	2	0	2	3	1	6	2	3	1	3	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:24661549C>T	ENST00000261789.4	-	4	1339	c.981G>A	c.(979-981)atG>atA	p.M327I	TM9SF1_ENST00000556387.1_Missense_Mutation_p.M536I|TM9SF1_ENST00000528669.1_Missense_Mutation_p.M327I|TM9SF1_ENST00000524835.1_Missense_Mutation_p.M240I|TM9SF1_ENST00000530611.1_Missense_Mutation_p.M536I|TM9SF1_ENST00000396854.4_Missense_Mutation_p.M327I|RP11-468E2.2_ENST00000561419.1_5'Flank	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	327					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCAGCAGTGCCATGACAATAA	0.537																																						uc010tob.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(1684-1686)atG>atA		Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.							76	64	68					14																	24661549		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24661549C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.981G>A	14.37:g.24661549C>T	ENSP00000261789:p.Met327Ile					IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Missense_Mutation_p.M327I|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wnc.3_Missense_Mutation_p.M327I	p.M562I	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	7	2320	-			327					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.1686G>A	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167896	0.57476	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611	T;T;T;T;T;T	0.79653	1.09;1.09;1.09;0.46;-1.29;1.09	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	N	0.17248	0.465	0.80722	D	1	B;B;B	0.32968	0.392;0.024;0.005	B;B;B	0.33960	0.173;0.055;0.03	T	0.69235	-0.5198	10	0.38643	T	0.18	-19.6972	16.5211	0.84317	0.0:1.0:0.0:0.0	.	327;327;327	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	I	327;327;536;240;327;536	ENSP00000261789:M327I;ENSP00000432997:M327I;ENSP00000451949:M536I;ENSP00000434387:M240I;ENSP00000380063:M327I;ENSP00000433967:M536I	ENSP00000433967:M536I	M	-	3	0	TM9SF1;RP11-468E2.1	23731389	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.860000	0.75473	2.779000	0.95612	0.655000	0.94253	ATG		0.537	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		T	24661549	C	T	24661549	3	4	233	1	0	0	0	0	1	0	0	0	15974	594	21	3	894	3	TM9SF1	14	24661549	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		24661549	82687991	42	16458											
SERPINA4	5267	broad.mit.edu	37	chr14	95033524	95033524	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcaaaatgagggagatTgaagaggttctgactccaga	15	7	13	6	0	1	6	0	3	1	3	2	7	2	6	1	3	0	2	1	3	4	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:95033524T>A	ENST00000557004.1	+	3	1288	c.867T>A	c.(865-867)atT>atA	p.I289I	SERPINA4_ENST00000298841.5_Silent_p.I289I|SERPINA4_ENST00000555095.1_Silent_p.I289I|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	289					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGAGGGAGATTGAAGAGGTTC	0.468																																						uc010avd.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(976-978)atT>atA		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.							100	97	98					14																	95033524		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033524T>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.867T>A	14.37:g.95033524T>A						SERPINA4_uc001ydk.3_Silent_p.I289I|SERPINA4_uc001ydl.3_Silent_p.I289I	p.I326I	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	1252	+			289					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.978T>A	CCDS9927.1																																																																																				0.468	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		A	95033524	T	A	95033524	2	1	233	1	0	0	0	0	0	0	0	1	14091	1800	63	5		5	SERPINA4	14	95033524	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	70371975	95033524	12316016	43	16459											
MAP1A	4130	broad.mit.edu	37	chr15	43817784	43817784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttacagcagaaagaCaaaactctggagcacaagga	18	6	10	7	0	1	2	0	0	1	2	1	5	1	4	0	2	4	3	0	2	6	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:43817784C>T	ENST00000300231.5	+	4	4563	c.4113C>T	c.(4111-4113)gaC>gaT	p.D1371D	MAP1A_ENST00000399453.1_Silent_p.D1371D|MAP1A_ENST00000382031.1_Silent_p.D1609D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1371					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAGAAAGACAAAACTCTGG	0.453																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4111-4113)gaC>gaT		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						99	96	97					15																	43817784		1907	4125	6032	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817784C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4113C>T	15.37:g.43817784C>T							p.D1371D	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	4580	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1371					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.4113C>T	CCDS42031.1																																																																																				0.453	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43817784	C	T	43817784	2	4	233	1	0	0	0	0	0	0	0	1	9227	477	17	3		3	MAP1A	15	43817784	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08		43817784	58713608	44	16460											
RNF111	54778	broad.mit.edu	37	chr15	59323149	59323149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttgcatccagagcccaTtggggcagccaaaagttttc	9	11	9	12	0	0	1	0	0	0	1	2	1	1	1	4	2	3	3	4	2	2	5			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:59323149T>C	ENST00000557998.1	+	2	415	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RNF111_ENST00000434298.1_Missense_Mutation_p.I43T|RNF111_ENST00000348370.4_Missense_Mutation_p.I43T|RNF111_ENST00000559209.1_Missense_Mutation_p.I43T|RNF111_ENST00000561186.1_Missense_Mutation_p.I43T	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	43					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCAGAGCCCATTGGGGCAGCC	0.438																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(127-129)aTt>aCt		Homo sapiens ring finger protein 111 (RNF111), mRNA.							69	70	69					15																	59323149		2192	4292	6484	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323149T>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.128T>C	15.37:g.59323149T>C	ENSP00000452732:p.Ile43Thr					RNF111_uc002afs.3_Missense_Mutation_p.I43T|RNF111_uc002aft.3_Missense_Mutation_p.I43T|RNF111_uc002afu.3_Missense_Mutation_p.I43T|RNF111_uc002afw.3_Missense_Mutation_p.I43T	p.I43T	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	1	407	+			43					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.128T>C	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212306	0.58452	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17370	2.28;2.29	5.57	5.57	0.84162	.	0.268845	0.41294	D	0.000905	T	0.19248	0.0462	L	0.44542	1.39	0.43390	D	0.995503	B;B;B	0.26258	0.145;0.09;0.145	B;B;B	0.29176	0.099;0.028;0.061	T	0.02275	-1.1184	10	0.87932	D	0	-11.4874	14.915	0.70789	0.0:0.0:0.0:1.0	.	43;43;43	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	T	43	ENSP00000288199:I43T;ENSP00000393641:I43T	ENSP00000288199:I43T	I	+	2	0	RNF111	57110441	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.603000	0.67619	2.114000	0.64651	0.397000	0.26171	ATT		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		C	59323149	T	C	59323149	3	2	233	1	0	0	0	0	1	0	0	0	13425	1493	52	4	130	4	RNF111	15	59323149	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	15505365	59323149	43208243	45	16461											
TP53	7157	broad.mit.edu	37	chr17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcttccagtgtgatgAtggtgaggatgggcctccgg	6	11	17	7	1	1	3	0	3	1	0	3	5	3	5	3	5	0	0	3	5	0	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:7577520A>C	ENST00000269305.4	-	7	950	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_ENST00000420246.2_Missense_Mutation_p.I254S|TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000359597.4_Missense_Mutation_p.I254S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	254	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGTGTGATGATGGTGAGGAT	0.587		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		35	Substitution - Missense(15)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(1)|Unknown(1)	p.I254S(12)|p.L252_I254delLTI(8)|p.0?(8)|p.I254F(7)|p.I254T(6)|p.I254N(6)|p.I254D(6)|p.I254V(5)|p.T253S(5)|p.I254fs*10(5)|p.T253_I255del(4)|p.I254del(4)|p.I251_T253delILT(4)|p.T253I(3)|p.T253A(3)|p.T253fs*11(3)|p.T253P(3)|p.T253N(2)|p.T253T(2)|p.T253fs*91(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.T253fs*92(1)|p.I254I(1)|p.?(1)|p.T253del(1)|p.I254fs*91(1)|p.T253fs*?(1)	haematopoietic_and_lymphoid_tissue(9)|large_intestine(7)|bone(4)|central_nervous_system(3)|stomach(2)|oesophagus(2)|breast(2)|ovary(2)|endometrium(1)|skin(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(760-762)aTc>aGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							148	106	120					17																	7577520		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577520A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.761T>G	17.37:g.7577520A>C	ENSP00000269305:p.Ile254Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.3_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.I254S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	254		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.761T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426944	0.62733	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.84219	2.685	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.951;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.968;1.0;1.0;0.997	D	0.96936	0.9684	10	0.87932	D	0	-30.4212	12.3101	0.54924	1.0:0.0:0.0:0.0	.	254;254;254;254;254	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	254;254;254;254;254;254;243;122	ENSP00000410739:I254S;ENSP00000352610:I254S;ENSP00000269305:I254S;ENSP00000398846:I254S;ENSP00000391127:I254S;ENSP00000391478:I254S;ENSP00000425104:I122S	ENSP00000269305:I254S	I	-	2	0	TP53	7518245	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577520	A	C	7577520	3	2	233	1	0	0	0	0	1	0	0	0	16378	333	12	5	529	5	TP53	17	7577520	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08		7577520	73617690	46	16462											
DHRS11	79154	broad.mit.edu	37	chr17	34951507	34951507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgttctcagctatccGttctcagcacagcggtgtag	7	12	9	13	2	2	0	2	0	2	0	6	0	4	0	2	1	3	5	2	1	2	4	rs148449399		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:34951507G>A	ENST00000251312.5	+	2	466	c.254G>A	c.(253-255)cGt>cAt	p.R85H	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_Missense_Mutation_p.R6H	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	85						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						TCAGCTATCCGTTCTCAGCAC	0.537																																						uc002hnd.3																			0				endometrium(1)|lung(4)	5						c.(253-255)cGt>cAt		Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.		G	HIS/ARG	0,4406		0,0,2203	154	131	139		254	6	1	17	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHRS11	NM_024308.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	85/261	34951507	1,13005	2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951507G>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.254G>A	17.37:g.34951507G>A	ENSP00000251312:p.Arg85His						p.R85H	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			1	468	+			85					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.254G>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272454	0.80580	0.0	1.16E-4	ENSG00000108272	ENST00000251312;ENST00000394445	D	0.88354	-2.37	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.102047	0.64402	D	0.000004	D	0.86539	0.5957	L	0.54323	1.7	0.31151	N	0.705457	P	0.49090	0.919	B	0.43413	0.419	D	0.87444	0.2397	10	0.51188	T	0.08	-20.1107	10.8236	0.46619	0.1433:0.0:0.8567:0.0	.	85	Q6UWP2	DHR11_HUMAN	H	85	ENSP00000251312:R85H	ENSP00000251312:R85H	R	+	2	0	DHRS11	32025620	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.335000	0.52105	2.828000	0.97474	0.655000	0.94253	CGT		0.537	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		A	34951507	G	A	34951507	3	1	233	1	0	0	0	0	1	0	0	0	4487	1145	40	1	260	1	DHRS11	17	34951507	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	27373987	34951507	46243703	47	16463											
LAMA3	3909	broad.mit.edu	37	chr18	21511114	21511114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttaaatctccacagaCgtatatggatggtttactgc	12	15	7	7	1	1	1	0	0	1	1	2	2	1	2	1	2	2	2	1	2	6	7			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:21511114C>T	ENST00000313654.9	+	65	8766	c.8525C>T	c.(8524-8526)aCg>aTg	p.T2842M	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.T1233M|LAMA3_ENST00000587184.1_Missense_Mutation_p.T1177M|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2786M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2842	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCTCCACAGACGTATATGGAT	0.428																																						uc002kuq.3																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8524-8526)aCg>aTg		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110	110	110					18																	21511114		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21511114C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8525C>T	18.37:g.21511114C>T	ENSP00000324532:p.Thr2842Met					LAMA3_uc002kur.3_Missense_Mutation_p.T2786M|LAMA3_uc002kus.4_Missense_Mutation_p.T1233M|LAMA3_uc002kut.4_Missense_Mutation_p.T1177M	p.T2842M	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			64	8611	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2842			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8525C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124619	0.56613	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78481	-1.18;-1.18;-1.18	5.43	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86024	0.5834	M	0.78049	2.395	0.26285	N	0.978217	D;D;D;D	0.89917	1.0;1.0;0.995;0.999	D;D;D;D	0.74674	0.978;0.984;0.912;0.912	T	0.76173	-0.3056	9	0.32370	T	0.25	.	10.6433	0.45604	0.191:0.809:0.0:0.0	.	1177;1233;2786;2842	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	M	2842;2786;1233	ENSP00000324532:T2842M;ENSP00000382432:T2786M;ENSP00000269217:T1233M	ENSP00000269217:T1233M	T	+	2	0	LAMA3	19765112	0.349000	0.24870	0.717000	0.30585	0.771000	0.43674	0.494000	0.22467	2.533000	0.85409	0.655000	0.94253	ACG		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21511114	C	T	21511114	3	4	233	1	0	0	0	0	1	0	0	0	8607	536	19	1	8958	1	LAMA3	18	21511114	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		21511114	56566134	48	16464											
DSC3	1825	broad.mit.edu	37	chr18	28604418	28604418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtagtgggaggggcagAtctgctgaatatccatctgc	9	10	15	7	0	2	2	0	1	2	1	3	3	3	3	1	4	2	3	1	4	3	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:28604418A>T	ENST00000360428.4	-	6	752	c.672T>A	c.(670-672)gaT>gaA	p.D224E	DSC3_ENST00000434452.1_Missense_Mutation_p.D224E	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	224	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGAGGGGCAGATCTGCTGAAT	0.398																																						uc002kwj.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(670-672)gaT>gaA		Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.							71	75	74					18																	28604418		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28604418A>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.672T>A	18.37:g.28604418A>T	ENSP00000353608:p.Asp224Glu					DSC3_uc002kwi.4_Missense_Mutation_p.D224E	p.D224E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		5	827	-			224			Cadherin 1.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.672T>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.290885	0.00248	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59772	0.24;0.24	4.9	0.133	0.14766	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.21145	0.0509	N	0.00960	-1.095	0.25493	N	0.987624	B;B	0.23854	0.092;0.025	B;B	0.33339	0.162;0.03	T	0.36601	-0.9741	9	0.02654	T	1	.	2.9157	0.05751	0.2124:0.15:0.4892:0.1484	.	224;224	Q14574;Q14574-2	DSC3_HUMAN;.	E	224	ENSP00000353608:D224E;ENSP00000392068:D224E	ENSP00000353608:D224E	D	-	3	2	DSC3	26858416	0.006000	0.16342	0.073000	0.20177	0.007000	0.05969	-0.069000	0.11542	-0.048000	0.13401	-0.899000	0.02877	GAT		0.398	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28604418	A	T	28604418	3	4	233	1	0	0	0	0	1	0	0	0	4767	330	12	5	2093	5	DSC3	18	28604418	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	7093304	28604418	49472830	49	16465											
ANKRD24	170961	broad.mit.edu	37	chr19	4207777	4207777	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagccccctcccctggtaGgacggccctgatgctggcct	5	8	12	16	1	0	1	0	1	0	0	1	2	1	2	6	4	2	3	6	4	2	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:4207777G>A	ENST00000600132.1	+	10	920		c.e10-1		ANKRD24_ENST00000262970.5_Splice_Site|ANKRD24_ENST00000318934.4_Splice_Site|RN7SL84P_ENST00000578969.1_RNA	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24											endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCCCTGGTAGGACGGCCCTG	0.682											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dtt.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.e10-1		Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.							16	17	17					19																	4207777		1928	4114	6042	SO:0001630	splice_region_variant	170961							g.chr19:4207777G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.645-1G>A	19.37:g.4207777G>A			OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	p.R215_splice	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	10	921	+			215					O75268|O95781	Splice_Site	SNP	ENST00000600132.1	37	c.645_splice	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568342	0.65651	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.529	0.61611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD24	4158777	1.000000	0.71417	0.985000	0.45067	0.940000	0.58332	8.095000	0.89535	2.262000	0.75019	0.456000	0.33151	.		0.682	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	Intron	A	4207777	G	A	4207777	5	1	233	1	0	0	0	0	0	0	1	0	653	1014	35	3	678	3	ANKRD24	19	4207777	Splice_Site	SNP	G	TCGA-32-2634-01A-01D-1495-08		4207777	54921206	50	16466											
CACNA1A	773	broad.mit.edu	37	chr19	13355996	13355996	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagctggagggagacttacCccaaactcagtcacgaggat	13	6	12	10	1	2	1	2	0	0	1	2	6	2	3	2	3	3	1	2	3	3	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:13355996C>T	ENST00000360228.5	-	31	4949	c.4950G>A	c.(4948-4950)ggG>ggA	p.G1650G	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Splice_Site_p.G1651G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1651					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGACTTACCCCAAACTCAG	0.597																																						uc002mwy.3																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.e31+1		Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						90	93	92					19																	13355996		2014	4170	6184	SO:0001630	splice_region_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13355996C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4950+1G>A	19.37:g.13355996C>T						CACNA1A_uc002mwx.3_Splice_Site_p.G356_splice|CACNA1A_uc010dzc.2_Splice_Site_p.G1176_splice|CACNA1A_uc010xnd.2_Splice_Site_p.G1653_splice|CACNA1A_uc021ups.1_Splice_Site_p.G1650_splice|CACNA1A_uc010xne.2_Splice_Site_p.G1653_splice|CACNA1A_uc010dze.2_Splice_Site_p.G1650_splice|CACNA1A_uc021upt.1_Splice_Site_p.G1651_splice|CACNA1A_uc002mwv.3_Splice_Site_p.G167_splice	p.G1650_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	5186	-			1651					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.4950_splice	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	Silent	T	13355996	C	T	13355996	5	4	233	1	0	0	0	0	0	0	1	0	2538	637	22	3	2740	3	CACNA1A	19	13355996	Splice_Site	SNP	C	TCGA-32-2634-01A-01D-1495-08	9148219	13355996	45772987	51	16467											
ATP4A	495	broad.mit.edu	37	chr19	36051416	36051416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccaggatgcggatgtcGgcgggcactctgtccccacc	5	6	14	16	4	1	0	0	0	1	0	3	2	2	2	5	4	1	1	5	4	0	0	rs149880813		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:36051416G>A	ENST00000262623.3	-	6	664	c.636C>T	c.(634-636)gcC>gcT	p.A212A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	212					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGCGGATGTCGGCGGGCACTC	0.622																																						uc002oal.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(634-636)gcC>gcT		Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)			1,4405	2.1+/-5.4	0,1,2202	60	55	57		636	-6.2	0.3	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	ATP4A	NM_000704.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		212/1036	36051416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051416G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.636C>T	19.37:g.36051416G>A						ATP4A_uc010eee.1_5'Flank	p.A212A	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	665	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		212					O00738	Silent	SNP	ENST00000262623.3	37	c.636C>T	CCDS12467.1																																																																																				0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		A	36051416	G	A	36051416	2	1	233	1	0	0	0	0	0	0	0	1	1145	1103	39	2		2	ATP4A	19	36051416	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	22695420	36051416	23077567	52	16468											
EPS8L1	54869	broad.mit.edu	37	chr19	55593671	55593671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcggcaacatcgccgaccCctcctctccggagctgttgc	5	7	11	18	5	1	0	0	0	1	0	4	2	2	1	5	2	3	3	5	2	1	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:55593671C>T	ENST00000201647.6	+	11	1075	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Missense_Mutation_p.P322L|EPS8L1_ENST00000245618.5_Missense_Mutation_p.P213L|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.P276L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	340					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATCGCCGACCCCTCCTCTCCG	0.731																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1018-1020)cCc>cTc		Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.							16	18	17					19																	55593671		2200	4293	6493	SO:0001583	missense	54869					cytoplasm		g.chr19:55593671C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1019C>T	19.37:g.55593671C>T	ENSP00000201647:p.Pro340Leu					EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.2_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.3_5'UTR|EPS8L1_uc002qiw.3_Missense_Mutation_p.P87L	p.P340L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	10	1123	+			340					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1019C>T	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306219	0.81247	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.59772	0.24;0.24;0.24	3.96	2.87	0.33458	.	0.064517	0.64402	D	0.000006	T	0.75451	0.3851	M	0.85945	2.785	0.80722	D	1	P;P;D;D;D	0.89917	0.889;0.932;1.0;1.0;1.0	P;P;D;D;D	0.97110	0.527;0.719;1.0;1.0;0.999	T	0.78071	-0.2347	10	0.87932	D	0	-20.55	10.5092	0.44851	0.1957:0.8043:0.0:0.0	.	276;322;87;213;340	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	L	322;340;276;213	ENSP00000201647:P340L;ENSP00000437541:P276L;ENSP00000245618:P213L	ENSP00000201647:P340L	P	+	2	0	EPS8L1	60285483	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.554000	0.73923	0.952000	0.37798	0.491000	0.48974	CCC		0.731	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		T	55593671	C	T	55593671	3	4	233	1	0	0	0	0	1	0	0	0	5195	623	22	3	1109	3	EPS8L1	19	55593671	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	19542255	55593671	3535312	53	16469											
ZFP28	140612	broad.mit.edu	37	chr19	57066095	57066095	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagaagccctatgaatgTaaggtttgtagtaaagcgtt	13	11	13	4	1	0	2	0	1	0	1	0	4	0	3	1	2	2	5	1	2	7	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:57066095T>G	ENST00000301318.3	+	8	2012	c.1941T>G	c.(1939-1941)tgT>tgG	p.C647W	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTATGAATGTAAGGTTTGTA	0.458																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1939-1941)tgT>tgG		Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.							80	84	83					19																	57066095		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066095T>G		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1941T>G	19.37:g.57066095T>G	ENSP00000301318:p.Cys647Trp					BX647249_uc002qnk.1_Intron	p.C647W	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	7	2012	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	647					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1941T>G	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056006	0.36277	.	.	ENSG00000196867	ENST00000301318	D	0.85258	-1.96	3.78	-0.649	0.11461	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000128	D	0.94218	0.8144	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91923	0.5549	10	0.87932	D	0	.	8.5672	0.33547	0.0:0.4679:0.0:0.5321	.	647	Q8NHY6	ZFP28_HUMAN	W	647	ENSP00000301318:C647W	ENSP00000301318:C647W	C	+	3	2	ZFP28	61757907	0.000000	0.05858	0.265000	0.24526	0.919000	0.55068	-1.153000	0.03169	-0.078000	0.12730	0.374000	0.22700	TGT		0.458	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		G	57066095	T	G	57066095	3	3	233	1	0	0	0	0	1	0	0	0	17639	1644	57	5	1971	5	ZFP28	19	57066095	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	1472424	57066095	2062888	54	16470											
NSFL1C	55968	broad.mit.edu	37	chr20	1424444	1424444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggttggcttccttcaGggtctggctctcatcagcca	6	11	12	12	0	4	0	3	0	2	0	6	1	5	0	2	4	2	4	2	4	0	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr20:1424444G>A	ENST00000216879.4	-	9	1930	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	NSFL1C_ENST00000476071.1_Silent_p.L357L|NSFL1C_ENST00000381658.4_Silent_p.L244L|NSFL1C_ENST00000350991.4_Silent_p.L357L|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.L324L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	355	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTTCCTTCAGGGTCTGGCTC	0.582																																						uc002wfc.3																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1063-1065)Ctg>Ttg		Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.							78	69	72					20																	1424444		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1424444G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.1063C>T	20.37:g.1424444G>A						NSFL1C_uc021vzq.1_Silent_p.L241L|NSFL1C_uc002wfe.3_Silent_p.L324L	p.L355L	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			8	1931	-			355			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.1063C>T	CCDS13015.1																																																																																				0.582	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		A	1424444	G	A	1424444	2	1	233	1	0	0	0	0	0	0	0	1	10672	991	35	3		3	NSFL1C	20	1424444	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08		1424444	61601076	55	16471											
SLC6A14	11254	broad.mit.edu	37	chrX	115573956	115573956	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcttcttttcaaagtGaactaccatggaaaaattgt	12	16	7	6	0	2	1	1	1	1	0	2	2	2	2	1	1	3	2	1	1	5	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:115573956G>T	ENST00000371900.4	+	4	536	c.448G>T	c.(448-450)Gaa>Taa	p.E150*		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	150					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTTCAAAGTGAACTACCATG	0.323																																						uc004eqi.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(448-450)Gaa>Taa		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						126	118	121					X																	115573956		2203	4297	6500	SO:0001587	stop_gained	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115573956G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.448G>T	X.37:g.115573956G>T	ENSP00000360967:p.Glu150*					SLC6A14_uc011mtm.2_Splice_Site	p.E150*	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			3	579	+			150					Q5H942	Nonsense_Mutation	SNP	ENST00000371900.4	37	c.448G>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762563	0.96906	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.61	2.77	0.32553	.	0.454788	0.25045	N	0.033578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	8.3675	0.32395	0.0857:0.4534:0.4609:0.0	.	.	.	.	X	150	.	ENSP00000360967:E150X	E	+	1	0	SLC6A14	115487984	0.371000	0.25056	0.448000	0.26945	0.981000	0.71138	1.623000	0.37008	0.143000	0.18926	-0.218000	0.12543	GAA		0.323	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			T	115573956	G	T	115573956	4	4	233	1	0	0	0	0	0	1	0	0	14677	1291	45	5	462	5	SLC6A14	23	115573956	Nonsense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		115573956	39696604	56	16472											
UBE2U	148581	broad.mit.edu	37	chr1	64707415	64707418	+	Splice_Site	DEL	AAGT	AAGT	-																															atcagaaagaatggaatttaAagtaagaaatatgaagtgcc																								rs371128509		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:64707415_64707418delAAGT	ENST00000371076.3	+	8	920_921	c.676_677delAAGT	c.(676-678)aag>g	p.K226fs	UBE2U_ENST00000464349.1_3'UTR	NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	226					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						ATGGAATTTAAAGTAAGAAATATG	0.304																																						uc001dbn.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.e8+1		Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.																																				SO:0001630	splice_region_variant	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64707415_64707418delAAGT	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.677+1AAGT>-	1.37:g.64707415_64707418delAAGT							p.K226_splice	NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN			8	921	+			226					Q8N1D4	Splice_Site	DEL	ENST00000371076.3	37	c.677_splice	CCDS627.1																																																																																				0.304	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489	Frame_Shift_Del	-	64707418	AAGT	-	64707415	8	5	234	1	0	1	0	1	0	0	1	0	16871	28	1	0	706	0	UBE2U	1	64707415	Splice_Site	DEL	AAGT	TCGA-32-2638-01A-01D-1495-08		64707415	184543206	1	16473											
AMPD1	270	broad.mit.edu	37	chr1	115221096	115221096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagatttcttaataaaaCgcagcagatgtttctggttc	12	14	9	6	1	2	2	0	0	2	2	3	2	2	2	0	2	2	5	0	2	4	6	rs142123340	byFrequency	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:115221096C>T	ENST00000520113.2	-	8	1064	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	AMPD1_ENST00000369538.3_Missense_Mutation_p.R346H|AMPD1_ENST00000353928.6_Missense_Mutation_p.R317H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	350					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTAATAAAACGCAGCAGATG	0.368													C|||	2	0.000399361	0	0	5008	,	,		21609	0		0.001	False		,,,				2504	0.001					uc001efe.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1048-1050)cGt>cAt		Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	115	113	114		1049,1037	4.2	1	1	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	350/781,346/777	115221096	1,13005	2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115221096C>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1049G>A	1.37:g.115221096C>T	ENSP00000430075:p.Arg350His					AMPD1_uc001eff.2_Missense_Mutation_p.R346H	p.R350H	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1097	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	317					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1049G>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762270	0.69763	0.0	1.16E-4	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.83506	-1.73;-1.73;-1.73	5.1	4.17	0.49024	Adenosine/AMP deaminase (1);	0.047756	0.85682	D	0.000000	T	0.82157	0.4976	M	0.92459	3.31	0.80722	D	1	B;B	0.15930	0.011;0.015	B;B	0.15052	0.005;0.012	D	0.84714	0.0736	10	0.72032	D	0.01	-12.5081	13.3069	0.60357	0.0:0.9232:0.0:0.0768	.	346;317	Q5TF02;P23109	.;AMPD1_HUMAN	H	350;346;317	ENSP00000430075:R350H;ENSP00000358551:R346H;ENSP00000316520:R317H	ENSP00000316520:R317H	R	-	2	0	AMPD1	115022619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.045000	0.57368	2.539000	0.85634	0.561000	0.74099	CGT		0.368	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			T	115221096	C	T	115221096	3	4	234	1	0	0	0	0	1	0	0	0	585	536	19	1	1329	1	AMPD1	1	115221096	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	50513681	115221096	134029525	2	16474											
ASH1L	55870	broad.mit.edu	37	chr1	155449241	155449241	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcatactgccctgtctGgagtgtaaatgcaaatatgg	12	12	10	7	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	6	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:155449241G>C	ENST00000368346.3	-	3	4059	c.3420C>G	c.(3418-3420)tcC>tcG	p.S1140S	ASH1L_ENST00000392403.3_Silent_p.S1140S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1140					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCCCTGTCTGGAGTGTAAAT	0.478																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3418-3420)tcC>tcG		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							88	82	84					1																	155449241		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449241G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3420C>G	1.37:g.155449241G>C						ASH1L_uc001fkt.3_Silent_p.S1140S|ASH1L_uc009wqr.1_Silent_p.S1140S	p.S1140S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	3900	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1140					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.3420C>G																																																																																					0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155449241	G	C	155449241	2	2	234	1	0	0	0	0	0	0	0	1	1041	1335	47	5		5	ASH1L	1	155449241	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	40228145	155449241	93801380	3	16475											
SEC16B	89866	broad.mit.edu	37	chr1	177937026	177937026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacaggccgatgatgtcCatctctccgaaaccctcggt	9	8	11	13	3	1	1	0	1	1	0	5	4	3	2	4	3	1	0	4	3	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:177937026C>T	ENST00000308284.6	-	2	180	c.91G>A	c.(91-93)Gga>Aga	p.G31R	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.G31R	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	31					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGATGATGTCCATCTCTCCGA	0.602																																						uc001glj.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(91-93)Gga>Aga		Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.							80	81	81					1																	177937026		2017	4193	6210	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177937026C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.91G>A	1.37:g.177937026C>T	ENSP00000308339:p.Gly31Arg					SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.G31R|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.G31R	p.G31R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			6	957	-			31					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.91G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040712	0.19669	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.51071	2.31;0.72	5.58	3.62	0.41486	.	0.247966	0.28476	N	0.015210	T	0.28499	0.0705	L	0.39397	1.21	0.29202	N	0.875135	P;B;B	0.39424	0.673;0.414;0.414	B;B;B	0.31751	0.135;0.092;0.092	T	0.21280	-1.0250	10	0.07030	T	0.85	-2.7467	8.1515	0.31143	0.0:0.8063:0.0:0.1937	.	31;31;31	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	R	31	ENSP00000308339:G31R;ENSP00000431727:G31R	ENSP00000308339:G31R	G	-	1	0	AL359075.1	176203649	0.006000	0.16342	0.201000	0.23476	0.130000	0.20726	1.820000	0.39032	0.635000	0.30488	0.557000	0.71058	GGA		0.602	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		T	177937026	C	T	177937026	3	4	234	1	0	0	0	0	1	0	0	0	13987	603	21	3	3191	3	SEC16B	1	177937026	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	22487785	177937026	71313595	4	16476											
USH2A	7399	broad.mit.edu	37	chr1	216595556	216595556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgaaagctcccacgttCtccagccttgggaaaagacc	10	10	8	13	1	2	2	0	1	2	1	4	3	3	3	4	1	2	2	4	1	3	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:216595556C>T	ENST00000307340.3	-	2	509	c.123G>A	c.(121-123)gaG>gaA	p.E41E	USH2A_ENST00000366942.3_Silent_p.E41E|USH2A_ENST00000366943.2_Silent_p.E41E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	41					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCACGTTCTCCAGCCTTG	0.473										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(121-123)gaG>gaA		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							85	89	88					1																	216595556		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595556C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.123G>A	1.37:g.216595556C>T		HNSCC(13;0.011)				USH2A_uc001hkv.3_Silent_p.E41E	p.E41E	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	1	510	-			41					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.123G>A	CCDS31025.1																																																																																				0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216595556	C	T	216595556	2	4	234	1	0	0	0	0	0	0	0	1	17033	912	32	3		3	USH2A	1	216595556	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	38658530	216595556	32655065	5	16477											
C1orf69	200205	broad.mit.edu	37	chr1	228362953	228362953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctgacggcccgcacccaCcacatgggcgtcatccgcaa	9	4	11	17	4	1	1	1	1	0	0	2	2	2	1	4	2	1	3	4	2	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:228362953C>A	ENST00000366711.3	+	3	812	c.810C>A	c.(808-810)caC>caA	p.H270Q	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.H77Q	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	270					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCCGCACCCACCACATGGGCG	0.652																																						uc001hsl.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(808-810)caC>caA		Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.							66	61	63					1																	228362953		2202	4298	6500	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362953C>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.810C>A	1.37:g.228362953C>A	ENSP00000355672:p.His270Gln					IBA57_uc010pvw.2_Missense_Mutation_p.H77Q	p.H270Q	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			2	899	+			270						Missense_Mutation	SNP	ENST00000366711.3	37	c.810C>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270216	0.59540	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.44083	0.93;0.93	5.08	3.13	0.36017	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, C-terminal barrel (1);	0.100063	0.64402	D	0.000002	T	0.44117	0.1278	L	0.49699	1.58	0.58432	D	0.999999	P	0.44429	0.835	P	0.49477	0.612	T	0.14420	-1.0473	10	0.24483	T	0.36	-30.6588	12.8179	0.57675	0.1272:0.7493:0.1235:0.0	.	270	Q5T440	CAF17_HUMAN	Q	270;77	ENSP00000355672:H270Q;ENSP00000437347:H77Q	ENSP00000355672:H270Q	H	+	3	2	IBA57	226429576	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.372000	0.52387	2.640000	0.89533	0.655000	0.94253	CAC		0.652	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		A	228362953	C	A	228362953	3	1	234	1	0	0	0	0	1	0	0	0	2057	506	18	5	820	5	C1orf69	1	228362953	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	11767397	228362953	20887668	6	16478											
OBSCN	84033	broad.mit.edu	37	chr1	228564891	228564891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagggcctgcgccacccGcacctggcccagctgcacgc	6	4	11	20	3	1	0	1	0	0	0	1	0	1	0	5	2	3	3	5	2	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:228564891G>A	ENST00000422127.1	+	101	23222	c.23178G>A	c.(23176-23178)ccG>ccA	p.P7726P	OBSCN_ENST00000366707.4_Silent_p.P5360P|OBSCN_ENST00000570156.2_Silent_p.P8683P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7726	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGCCACCCGCACCTGGCCC	0.697																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23176-23178)ccG>ccA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							11	15	13					1																	228564891		2048	4202	6250	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228564891G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23178G>A	1.37:g.228564891G>A						OBSCN_uc001hsr.1_Silent_p.P2355P	p.P7726P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			100	23222	+		Prostate(94;0.0405)	7726			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.23178G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603967	0.46423	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.82	-9.64	0.00541	.	.	.	.	.	T	0.50274	0.1606	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61103	-0.7130	4	.	.	.	.	11.1923	0.48691	0.5056:0.3813:0.1131:0.0	.	.	.	.	T	2343	.	.	A	+	1	0	OBSCN	226631514	0.000000	0.05858	0.806000	0.32338	0.670000	0.39368	-5.641000	0.00107	-1.696000	0.01421	0.313000	0.20887	GCA		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228564891	G	A	228564891	2	1	234	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228564891	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	201938	228564891	20685730	7	16479											
ZP4	57829	broad.mit.edu	37	chr1	238048807	238048807	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaggatggagacctcCacgtaaatgggatcccgaag	12	7	13	9	2	0	2	0	1	0	1	2	6	2	4	3	3	0	1	3	3	4	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:238048807C>G	ENST00000366570.4	-	8	1202	c.1044G>C	c.(1042-1044)gtG>gtC	p.V348V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	348	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGAGACCTCCACGTAAATGG	0.522																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1042-1044)gtG>gtC		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							68	67	67					1																	238048807		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048807C>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1044G>C	1.37:g.238048807C>G						LOC100130331_uc010pyc.2_Intron	p.V348V	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		7	1331	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	348			ZP.		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.1044G>C	CCDS1615.1																																																																																				0.522	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			G	238048807	C	G	238048807	2	3	234	1	0	0	0	0	0	0	0	1	18215	581	21	5		5	ZP4	1	238048807	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	9483916	238048807	11201814	8	16480											
DTNB	1838	broad.mit.edu	37	chr2	25674485	25674485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgttcctcatccagtcGgctaggactgtccagaacac	9	9	10	13	2	1	1	1	0	0	1	5	2	4	2	3	3	1	2	3	3	2	2	rs373229134		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:25674485G>A	ENST00000406818.3	-	12	1438	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	DTNB_ENST00000407186.1_Nonsense_Mutation_p.R367*|DTNB_ENST00000404103.3_Nonsense_Mutation_p.R397*|DTNB_ENST00000407038.3_Nonsense_Mutation_p.R367*|DTNB_ENST00000405222.1_Nonsense_Mutation_p.R367*|DTNB_ENST00000496972.2_Nonsense_Mutation_p.R340*|DTNB_ENST00000407661.3_Nonsense_Mutation_p.R397*|DTNB_ENST00000545439.1_Nonsense_Mutation_p.R193*|DTNB_ENST00000288642.8_Nonsense_Mutation_p.R397*	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	397						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATCCAGTCGGCTAGGACTG	0.468																																						uc002rgh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1189-1191)Cga>Tga		Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,3782		0,0,1891	58	53	54		1189,1189,1099,1189,1099	1.4	1	2		54	2,8260		0,2,4129	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	,,,,	0,2,6020	AA,AG,GG		0.0242,0.0,0.0166	,,,,	397/628,397/598,367/568,397/610,367/561	25674485	2,12042	1891	4131	6022	SO:0001587	stop_gained	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25674485G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1189C>T	2.37:g.25674485G>A	ENSP00000384084:p.Arg397*					DTNB_uc002rgg.3_Nonsense_Mutation_p.R26*|DTNB_uc010yko.2_Nonsense_Mutation_p.R340*|DTNB_uc002rgi.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgj.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgk.3_Nonsense_Mutation_p.R367*|DTNB_uc002rgl.3_Nonsense_Mutation_p.R367*|DTNB_uc002rgq.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgn.3_Nonsense_Mutation_p.R193*|DTNB_uc010ykp.2_Nonsense_Mutation_p.R193*|DTNB_uc002rgr.1_Nonsense_Mutation_p.R386*|DTNB_uc010ykq.1_Nonsense_Mutation_p.R250*	p.R397*	NM_021907	NP_068707	O60941	DTNB_HUMAN			11	1439	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		397					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Nonsense_Mutation	SNP	ENST00000406818.3	37	c.1189C>T	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	40	7.987716	0.98596	0.0	2.42E-4	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	.	.	.	5.51	1.42	0.22433	.	0.129068	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-6.9078	13.4217	0.61001	0.0:0.0:0.4591:0.5409	.	.	.	.	X	340;397;397;397;367;367;367;397;193;250	.	ENSP00000288642:R397X	R	-	1	2	DTNB	25527989	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.731000	0.38135	-0.022000	0.13986	-0.181000	0.13052	CGA		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		A	25674485	G	A	25674485	4	1	234	1	0	0	0	0	0	1	0	0	4789	1124	39	2	730	2	DTNB	2	25674485	Nonsense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		25674485	217524888	9	16481											
DUSP11	8446	broad.mit.edu	37	chr2	74007043	74007043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcttggctgaggagCgtcctgaaaagtcgcgtctc	6	12	11	12	3	3	2	0	2	3	0	6	3	4	3	2	2	1	1	2	2	2	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:74007043C>A	ENST00000272444.3	-	1	241	c.200G>T	c.(199-201)cGc>cTc	p.R67L	DUSP11_ENST00000443070.1_Missense_Mutation_p.R67L|DUSP11_ENST00000377706.4_Missense_Mutation_p.R20L|DUSP11_ENST00000480948.1_5'Flank	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	20					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GGCTGAGGAGCGTCCTGAAAA	0.617											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sjp.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(199-201)cGc>cTc		Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.							119	101	107					2																	74007043		2203	4300	6503	SO:0001583	missense	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74007043C>A	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.200G>T	2.37:g.74007043C>A	ENSP00000272444:p.Arg67Leu		OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	DUSP11_uc002sjq.4_Missense_Mutation_p.R67L	p.R67L	NM_003584	NP_003575	O75319	DUS11_HUMAN			0	242	-			20					B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	c.200G>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300360	0.40694	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	T;T	0.34275	1.37;1.9	4.6	-0.619	0.11572	.	0.995923	0.08138	N	0.992099	T	0.22551	0.0544	L	0.40543	1.245	0.09310	N	1	B;B	0.29646	0.253;0.145	B;B	0.23716	0.048;0.033	T	0.24584	-1.0156	10	0.14656	T	0.56	0.0062	4.5577	0.12145	0.0:0.4779:0.1614:0.3607	.	67;20	C9JYA6;O75319	.;DUS11_HUMAN	L	67;67;20;18	ENSP00000413444:R67L;ENSP00000366935:R20L	ENSP00000272444:R67L	R	-	2	0	DUSP11	73860551	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.180000	0.16860	-0.109000	0.12044	0.655000	0.94253	CGC		0.617	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			A	74007043	C	A	74007043	3	1	234	1	0	0	0	0	1	0	0	0	4811	768	27	5	969	5	DUSP11	2	74007043	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	48332558	74007043	169192330	10	16482											
MAP4K4	9448	broad.mit.edu	37	chr2	102483026	102483026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagtggctccggggaaCgcttcagagtgagatgtaag	10	8	15	8	2	2	3	2	1	0	3	3	5	3	4	1	3	1	3	1	3	2	2	rs369479508		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:102483026C>T	ENST00000347699.4	+	18	2107	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MAP4K4_ENST00000302217.5_Missense_Mutation_p.R503C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R672C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R619C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R502C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R676C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R781C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R618C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	703					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCGGGGAACGCTTCAGAGT	0.532																																						uc002tbc.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2341-2343)Cgc>Tgc		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,3895		0,1,1947	64	72	69		2107,2086,1852,2017,2017	5.8	1	2		69	0,8288		0,0,4144	no	missense,missense,missense,missense,missense	MAP4K4	NM_001242559.1,NM_001242560.1,NM_004834.4,NM_145686.3,NM_145687.3	180,180,180,180,180	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	703/1240,696/1236,618/1166,673/1274,673/1213	102483026	1,12183	1948	4144	6092	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102483026C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2107C>T	2.37:g.102483026C>T	ENSP00000314363:p.Arg703Cys					MAP4K4_uc002tbf.3_Missense_Mutation_p.R673C|MAP4K4_uc002tbd.3_Missense_Mutation_p.R673C|MAP4K4_uc010yvy.2_Missense_Mutation_p.R696C|MAP4K4_uc002tbh.3_Missense_Mutation_p.R618C|MAP4K4_uc002tbg.3_Missense_Mutation_p.R703C|MAP4K4_uc002tbi.3_Missense_Mutation_p.R503C|MAP4K4_uc010yvz.2_Missense_Mutation_p.R676C|MAP4K4_uc002tbk.3_Missense_Mutation_p.R158C|MAP4K4_uc021vlq.1_5'UTR|MAP4K4_uc002tbl.3_5'UTR	p.R781C	NM_145687	NP_001229488	O95819	M4K4_HUMAN			18	2719	+			703					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.2341C>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.569407|3.569407	0.65765|0.65765	2.57E-4|2.57E-4	0.0|0.0	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.16597|.	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.997;0.994;0.997;0.998;1.0;1.0;0.998;1.0;1.0|.	P;P;P;P;P;D;D;P;D;D|.	0.85130|.	0.549;0.548;0.451;0.548;0.736;0.997;0.991;0.736;0.977;0.992|.	T|T	0.76337|0.76337	-0.2996|-0.2996	10|5	0.72032|.	D|.	0.01|.	.|.	15.6438|15.6438	0.77033|0.77033	0.1378:0.8622:0.0:0.0|0.1378:0.8622:0.0:0.0	.|.	676;696;502;503;618;703;672;619;672;781|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	C|M	672;781;619;503;618;502;703;634;676|519	ENSP00000392830:R672C;ENSP00000313644:R781C;ENSP00000281111:R619C;ENSP00000303600:R503C;ENSP00000389752:R618C;ENSP00000387370:R502C;ENSP00000314363:R703C;ENSP00000409720:R634C;ENSP00000343658:R676C|.	ENSP00000303600:R503C|.	R|T	+|+	1|2	0|0	MAP4K4|MAP4K4	101849458|101849458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.611000|1.611000	0.36879|0.36879	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.532	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		T	102483026	C	T	102483026	3	4	234	1	0	0	0	0	1	0	0	0	9262	536	19	1	2415	1	MAP4K4	2	102483026	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	28475983	102483026	140716347	11	16483											
ZAK	51776	broad.mit.edu	37	chr2	174131422	174131422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccacaggccatctcccGccaaaaccaataaagagaga	16	3	7	15	1	1	2	0	0	1	2	2	3	1	2	6	1	2	0	6	1	5	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:174131422G>A	ENST00000375213.3	+	20	2425	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.A783T	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		783					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.A783S(1)									GCCATCTCCCGCCAAAACCAA	0.473																																						uc002uhz.3																			1	Substitution - Missense(1)	p.A783S(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(2347-2349)Gcc>Acc		Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.							18	22	20					2																	174131422		1866	4107	5973	SO:0001583	missense	51776				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr2:174131422G>A																												ENST00000375213.3:c.2347G>A	2.37:g.174131422G>A	ENSP00000364361:p.Ala783Thr					MLK7-AS1_uc002uib.3_Intron	p.A783T	NM_016653	NP_057737	Q14206	RCAN2_HUMAN			19	2547	+			0					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2347G>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403132	0.25291	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74526	-0.85;-0.85	6.08	4.28	0.50868	.	0.312255	0.36972	N	0.002317	T	0.59959	0.2232	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.54689	-0.8256	10	0.49607	T	0.09	.	10.341	0.43877	0.2013:0.0:0.7987:0.0	.	783	Q9NYL2	MLTK_HUMAN	T	783	ENSP00000387259:A783T;ENSP00000364361:A783T	ENSP00000364361:A783T	A	+	1	0	AC013461.1	173839668	0.802000	0.28943	0.737000	0.30932	0.006000	0.05464	1.140000	0.31516	0.896000	0.36366	-0.229000	0.12294	GCC		0.473	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			A	174131422	G	A	174131422	3	1	234	1	0	0	0	0	1	0	0	0	17509	1087	38	1	2806	1	ZAK	2	174131422	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	71648396	174131422	69067951	12	16484											
MYO1B	4430	broad.mit.edu	37	chr2	192261188	192261188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcagacaaagagttccGccttagtaattcagtcttat	13	11	7	10	1	2	2	1	0	1	2	3	2	3	2	3	0	1	3	3	0	4	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:192261188G>A	ENST00000392318.3	+	21	2507	c.2260G>A	c.(2260-2262)Gcc>Acc	p.A754T	MYO1B_ENST00000339514.4_Missense_Mutation_p.A754T|MYO1B_ENST00000439065.2_Missense_Mutation_p.A28T|MYO1B_ENST00000392316.1_Missense_Mutation_p.A754T|MYO1B_ENST00000304164.4_Missense_Mutation_p.A754T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	754	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAGAGTTCCGCCTTAGTAAT	0.373																																						uc010fsg.2																			0		p.S753S(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2260-2262)Gcc>Acc		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							148	145	146					2																	192261188		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192261188G>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2260G>A	2.37:g.192261188G>A	ENSP00000376132:p.Ala754Thr					MYO1B_uc002usq.2_Missense_Mutation_p.A754T|MYO1B_uc002usr.2_Missense_Mutation_p.A754T|MYO1B_uc002usu.2_Missense_Mutation_p.A28T	p.A754T	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		20	2515	+			754			IQ 3.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2260G>A	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636307	0.47049	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.67	3.86	0.44501	.	0.110502	0.64402	N	0.000005	T	0.36166	0.0957	L	0.51422	1.61	0.46927	D	0.999255	B;B;B	0.27765	0.004;0.188;0.023	B;B;B	0.27500	0.006;0.08;0.026	T	0.10314	-1.0635	10	0.35671	T	0.21	.	10.8241	0.46622	0.1474:0.0:0.8526:0.0	.	28;754;754	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	T	754;754;754;754;28	ENSP00000341903:A754T;ENSP00000376132:A754T;ENSP00000306382:A754T;ENSP00000376130:A754T;ENSP00000391442:A28T	ENSP00000306382:A754T	A	+	1	0	MYO1B	191969433	0.727000	0.28069	0.646000	0.29493	0.996000	0.88848	1.065000	0.30592	0.737000	0.32582	0.655000	0.94253	GCC		0.373	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		A	192261188	G	A	192261188	3	1	234	1	0	0	0	0	1	0	0	0	10069	1087	38	1	2338	1	MYO1B	2	192261188	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	18129766	192261188	50938185	13	16485											
SUCLG2	8801	broad.mit.edu	37	chr3	67570993	67570993	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagcacggggccattgcaGgaccggtccatcagaattgc	10	6	12	13	2	1	1	1	0	0	1	2	2	2	2	4	4	3	2	4	4	1	2	rs533065054	byFrequency	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:67570993G>C	ENST00000307227.5	-	5	510	c.483C>G	c.(481-483)tcC>tcG	p.S161S	SUCLG2_ENST00000493112.1_Silent_p.S161S|SUCLG2_ENST00000492795.1_Silent_p.S161S	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	161	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	GGCCATTGCAGGACCGGTCCA	0.502																																						uc021xae.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10						c.(481-483)tcC>tcG		Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Succinic acid(DB00139)						75	77	76					3																	67570993		1843	4091	5934	SO:0001819	synonymous_variant	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67570993G>C	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.483C>G	3.37:g.67570993G>C						SUCLG2_uc010hob.3_Silent_p.S42S|SUCLG2_uc003dna.4_Silent_p.S161S	p.S161S	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	4	511	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	161			ATP-grasp.		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Silent	SNP	ENST00000307227.5	37	c.483C>G	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243188	0.22796	.	.	ENSG00000172340	ENST00000460567	.	.	.	5.7	3.85	0.44370	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48703	-0.9012	4	.	.	.	.	5.4577	0.16600	0.2136:0.0:0.6338:0.1525	.	.	.	.	V	53	.	.	L	-	1	2	SUCLG2	67653683	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.697000	0.25556	0.705000	0.31890	0.650000	0.86243	CTG		0.502	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		C	67570993	G	C	67570993	2	2	234	1	0	0	0	0	0	0	0	1	15364	987	35	5		5	SUCLG2	3	67570993	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08		67570993	130451437	14	16486											
IFT122	55764	broad.mit.edu	37	chr3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagttccatgaggccGccaaactgtacaagaggagt	13	6	14	8	1	0	2	0	1	0	1	1	4	1	4	3	4	2	2	3	4	4	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:129214370G>A	ENST00000348417.2	+	18	2205	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	IFT122_ENST00000431818.2_Missense_Mutation_p.A560T|IFT122_ENST00000349441.2_Missense_Mutation_p.A599T|IFT122_ENST00000507564.1_Missense_Mutation_p.A702T|IFT122_ENST00000440957.2_Missense_Mutation_p.A501T|IFT122_ENST00000504021.1_Missense_Mutation_p.A586T|IFT122_ENST00000347300.2_Missense_Mutation_p.A651T|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.A761T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	710					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512																																						uc003eml.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2281-2283)Gcc>Acc		Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.							108	94	99					3																	129214370		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129214370G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2128G>A	3.37:g.129214370G>A	ENSP00000324005:p.Ala710Thr					IFT122_uc003emm.3_Missense_Mutation_p.A710T|IFT122_uc003emn.3_Missense_Mutation_p.A651T|IFT122_uc003emo.3_Missense_Mutation_p.A599T|IFT122_uc003emp.3_Missense_Mutation_p.A560T|IFT122_uc010htc.3_Missense_Mutation_p.A702T|IFT122_uc011bky.2_Missense_Mutation_p.A501T|IFT122_uc011bla.2_Missense_Mutation_p.A483T|IFT122_uc003emr.3_Missense_Mutation_p.A462T|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	p.A761T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN			18	2487	+			710					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2281G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463880	0.96257	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	D;D;D;D;T;D;D;D;T	0.82344	-1.6;-1.6;-1.6;-1.6;0.62;-1.6;-1.6;-1.6;0.67	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.996;0.986;0.995;0.979;0.985;0.979;0.991;0.99;0.996	D	0.94406	0.7627	10	0.87932	D	0	-22.0944	19.2895	0.94093	0.0:0.0:1.0:0.0	.	501;702;97;586;550;599;651;710;761	E9PDG2;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;IF122_HUMAN;.	T	651;761;702;651;560;586;599;710;550;501;207;72	ENSP00000323973:A651T;ENSP00000296266:A761T;ENSP00000425536:A702T;ENSP00000410946:A560T;ENSP00000422179:A586T;ENSP00000324165:A599T;ENSP00000324005:A710T;ENSP00000401569:A501T;ENSP00000424727:A207T	ENSP00000296266:A761T	A	+	1	0	IFT122	130697060	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	9.452000	0.97615	2.607000	0.88179	0.655000	0.94253	GCC		0.512	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		A	129214370	G	A	129214370	3	1	234	1	0	0	0	0	1	0	0	0	7555	1087	38	1	2355	1	IFT122	3	129214370	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	61643377	129214370	68808060	15	16487											
GRK7	131890	broad.mit.edu	37	chr3	141497201	141497201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccggaagccctcggactgCgacagcaaagagctgcagcg	10	3	14	14	4	0	1	0	0	0	1	1	4	0	3	2	2	6	3	2	2	2	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:141497201C>T	ENST00000264952.2	+	1	212	c.75C>T	c.(73-75)tgC>tgT	p.C25C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	25					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTCGGACTGCGACAGCAAAG	0.701																																						uc011bnd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(73-75)tgC>tgT		Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.							31	38	36					3																	141497201		2202	4297	6499	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497201C>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.75C>T	3.37:g.141497201C>T							p.C25C	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			0	159	+			25						Silent	SNP	ENST00000264952.2	37	c.75C>T	CCDS3120.1																																																																																				0.701	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		T	141497201	C	T	141497201	2	4	234	1	0	0	0	0	0	0	0	1	6794	776	27	1		1	GRK7	3	141497201	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	12282831	141497201	56525229	16	16488											
TM4SF1	4071	broad.mit.edu	37	chr3	149093335	149093335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatgacacagtagccagatCctgcaattccaatgagagca	15	7	8	11	0	0	3	0	2	0	2	2	4	2	3	3	0	3	3	3	0	4	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:149093335C>G	ENST00000305366.3	-	3	625	c.308G>C	c.(307-309)gGa>gCa	p.G103A	TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1_ENST00000472441.1_Missense_Mutation_p.G14A|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	103						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTAGCCAGATCCTGCAATTCC	0.507																																						uc003exb.1																			0				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12						c.(307-309)gGa>gCa		Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.							86	72	77					3																	149093335		2203	4300	6503	SO:0001583	missense	4071					integral to plasma membrane		g.chr3:149093335C>G	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.308G>C	3.37:g.149093335C>G	ENSP00000304277:p.Gly103Ala					TM4SF1_uc003exc.1_Missense_Mutation_p.G14A	p.G103A	NM_014220	NP_055035	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	542	-			103					Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	c.308G>C	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240378	0.58995	.	.	ENSG00000169908	ENST00000305366;ENST00000472441;ENST00000383054	T;T	0.41065	1.01;1.01	5.77	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.56978	0.2022	M	0.91818	3.245	0.80722	D	1	P;B	0.37663	0.604;0.45	B;B	0.38954	0.286;0.214	T	0.66586	-0.5886	10	0.54805	T	0.06	-15.0578	16.6578	0.85233	0.0:0.8701:0.1299:0.0	.	14;103	C9J611;P30408	.;T4S1_HUMAN	A	103;14;103	ENSP00000304277:G103A;ENSP00000417084:G14A	ENSP00000304277:G103A	G	-	2	0	TM4SF1	150576025	0.910000	0.30920	0.946000	0.38457	0.941000	0.58515	2.667000	0.46808	1.393000	0.46605	0.655000	0.94253	GGA		0.507	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			G	149093335	C	G	149093335	3	3	234	1	0	0	0	0	1	0	0	0	15963	855	30	5	312	5	TM4SF1	3	149093335	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	7596134	149093335	48929095	17	16489											
ADAMTS3	9508	broad.mit.edu	37	chr4	73184402	73184402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatgatcaaaagggtcatCaaggagacagtcataggaac	17	7	10	7	0	5	2	5	1	0	1	5	4	5	3	0	3	1	0	0	3	5	1	rs80237783		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:73184402C>G	ENST00000286657.4	-	10	1408	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	458	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGGGTCATCAAGGAGACAG	0.343																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1372-1374)Gat>Cat		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							88	82	84					4																	73184402		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73184402C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1372G>C	4.37:g.73184402C>G	ENSP00000286657:p.Asp458His						p.D458H	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1409	-			458			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1372G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755940	0.89843	.	.	ENSG00000156140	ENST00000286657	D	0.89050	-2.46	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96006	0.8997	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	458	O15072	ATS3_HUMAN	H	458	ENSP00000286657:D458H	ENSP00000286657:D458H	D	-	1	0	ADAMTS3	73403266	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.743000	0.85020	2.770000	0.95276	0.655000	0.94253	GAT		0.343	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			G	73184402	C	G	73184402	3	3	234	1	0	0	0	0	1	0	0	0	267	826	29	5	2297	5	ADAMTS3	4	73184402	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		73184402	117969874	18	16490											
MRPL1	65008	broad.mit.edu	37	chr4	78804480	78804480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaataaaagcatatccCtatatggaaggcgaacctga	19	7	8	7	1	0	1	0	1	0	0	1	4	1	2	2	2	2	1	2	2	10	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:78804480C>T	ENST00000315567.8	+	3	557	c.228C>T	c.(226-228)ccC>ccT	p.P76P	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	76					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P76P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAGCATATCCCTATATGGAAG	0.323																																						uc003hku.2																			1	Substitution - coding silent(1)	p.P76P(2)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(226-228)ccC>ccT		Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.							70	72	71					4																	78804480		2203	4300	6503	SO:0001819	synonymous_variant	65008						RNA binding	g.chr4:78804480C>T	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"Mitochondrial ribosomal proteins / large subunits"	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.228C>T	4.37:g.78804480C>T							p.P76P	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			2	426	+			76					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Silent	SNP	ENST00000315567.8	37	c.228C>T	CCDS3583.2																																																																																				0.323	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		T	78804480	C	T	78804480	2	4	234	1	0	0	0	0	0	0	0	1	9774	668	24	3		3	MRPL1	4	78804480	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	5620078	78804480	112349796	19	16491											
UNC5C	8633	broad.mit.edu	37	chr4	96090460	96090460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacagctgccagcatGctcaggtttccatctgggaa	10	9	10	12	0	2	1	1	0	1	1	4	2	4	2	3	2	4	4	3	2	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:96090460G>A	ENST00000453304.1	-	16	3069	c.2721C>T	c.(2719-2721)agC>agT	p.S907S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	907	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGCCAGCATGCTCAGGTTTC	0.483																																						uc003hto.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2719-2721)agC>agT		Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.							164	154	157					4																	96090460		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96090460G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2721C>T	4.37:g.96090460G>A							p.S907S	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	3074	-		Hepatocellular(203;0.114)	907			Death.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2721C>T	CCDS3643.1																																																																																				0.483	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		A	96090460	G	A	96090460	2	1	234	1	0	0	0	0	0	0	0	1	16990	1310	46	3		3	UNC5C	4	96090460	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	17285980	96090460	95063816	20	16492											
NAF1	92345	broad.mit.edu	37	chr4	164054388	164054388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttccttctctttttcAtcatcactaaaatctaaggc	9	17	4	11	0	5	0	3	0	2	0	7	0	6	0	1	2	0	1	1	2	3	7			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:164054388A>G	ENST00000274054.2	-	7	1144	c.951T>C	c.(949-951)gaT>gaC	p.D317D	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Silent_p.D317D	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	317					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCTCTTTTTCATCATCACTAA	0.333																																						uc003iqj.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(949-951)gaT>gaC		Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.							105	100	102					4																	164054388		2201	4300	6501	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164054388A>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.951T>C	4.37:g.164054388A>G						NAF1_uc010iqw.1_Silent_p.D317D	p.D317D	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			6	1145	-	all_hematologic(180;0.166)	Prostate(90;0.109)	317					D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.951T>C	CCDS3803.1																																																																																				0.333	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		G	164054388	A	G	164054388	2	3	234	1	0	0	0	0	0	0	0	1	10140	214	8	4		4	NAF1	4	164054388	Silent	SNP	A	TCGA-32-2638-01A-01D-1495-08	67963928	164054388	27099888	21	16493											
ODZ3	55714	broad.mit.edu	37	chr4	183574978	183574978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagactgaaaatgacacatTtgagaatggaaaagtgaatt	18	9	10	4	0	0	5	0	4	0	2	0	7	0	6	0	1	0	1	0	1	6	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:183574978T>C	ENST00000511685.1	+	6	1166	c.1043T>C	c.(1042-1044)tTt>tCt	p.F348S	TENM3_ENST00000406950.2_Missense_Mutation_p.F348S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	348					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AATGACACATTTGAGAATGGA	0.418																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(1042-1044)tTt>tCt		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							119	114	116					4																	183574978		1930	4144	6074	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183574978T>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1043T>C	4.37:g.183574978T>C	ENSP00000424226:p.Phe348Ser						p.F348S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	4	1118	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	348					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1043T>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419476	0.83559	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86230	-2.09;-2.09	5.95	5.95	0.96441	.	.	.	.	.	D	0.89763	0.6809	L	0.50333	1.59	0.53005	D	0.999967	P	0.40431	0.717	P	0.52217	0.693	D	0.89576	0.3817	9	0.51188	T	0.08	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	348	Q9P273	TEN3_HUMAN	S	348	ENSP00000424226:F348S;ENSP00000385276:F348S	ENSP00000385276:F348S	F	+	2	0	ODZ3	183811972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.833000	0.69349	2.281000	0.76405	0.528000	0.53228	TTT		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			C	183574978	T	C	183574978	3	2	234	1	0	0	0	0	1	0	0	0	10836	1841	64	4	1061	4	ODZ3	4	183574978	Missense_Mutation	SNP	T	TCGA-32-2638-01A-01D-1495-08	19520590	183574978	7579298	22	16494											
SH3RF2	153769	broad.mit.edu	37	chr5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccattctccttcagggCgccatatggtagagatcagc	8	11	11	11	1	3	1	2	0	1	1	5	2	4	1	3	3	1	1	3	3	2	4	rs563187260	byFrequency	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr5:145393517C>T	ENST00000511217.1	+	4	1004	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R318C			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	318					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.R318C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													C|||	10	0.00199681	0	0	5008	,	,		20277	0		0	False		,,,				2504	0.0102					uc003lnt.3																			1	Substitution - Missense(1)	p.R318C(2)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(952-954)Cgc>Tgc		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							118	114	115					5																	145393517		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393517C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.952C>T	5.37:g.145393517C>T	ENSP00000424497:p.Arg318Cys					SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1190	+			318					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.952C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564879	0.86439	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.09073	3.02;3.02	5.47	5.47	0.80525	.	0.149558	0.48286	D	0.000192	T	0.12347	0.0300	N	0.19112	0.55	0.49130	D	0.999757	D	0.71674	0.998	P	0.51170	0.661	T	0.02378	-1.1168	10	0.87932	D	0	-13.6685	19.6825	0.95970	0.0:1.0:0.0:0.0	.	318	Q8TEC5	SH3R2_HUMAN	C	318	ENSP00000352028:R318C;ENSP00000424497:R318C	ENSP00000352028:R318C	R	+	1	0	SH3RF2	145373710	1.000000	0.71417	0.908000	0.35775	0.916000	0.54674	3.642000	0.54367	2.727000	0.93392	0.591000	0.81541	CGC		0.577	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		T	145393517	C	T	145393517	3	4	234	1	0	0	0	0	1	0	0	0	14259	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		145393517	35521743	23	16495											
FRK	2444	broad.mit.edu	37	chr6	116265439	116265439	+	Frame_Shift_Del	DEL	C	C	-																															ggcaagtccaaaatctgctaCtttgtagatattatgttcac																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:116265439delC	ENST00000606080.1	-	6	1554	c.1108delG	c.(1108-1110)gtafs	p.V370fs	FRK_ENST00000538210.1_Frame_Shift_Del_p.V228fs	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AAATCTGCTACTTTGTAGATA	0.388																																						uc003pwi.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1108-1110)gtafs		Homo sapiens fyn-related kinase (FRK), mRNA.							75	74	75					6																	116265439		2203	4300	6503	SO:0001589	frameshift_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116265439delC	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1108delG	6.37:g.116265439delC	ENSP00000476145:p.Val370fs						p.V370fs	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	5	1555	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	370			Protein kinase.		B4DY49|Q13128|Q9NTR5	Frame_Shift_Del	DEL	ENST00000606080.1	37	c.1108delG	CCDS5103.1																																																																																				0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		-	116265439	C	-	116265439	7	5	234	1	0	1	0	1	0	0	0	0	6048	565	20	0	421	0	FRK	6	116265439	Frame_Shift_Del	DEL	C	TCGA-32-2638-01A-01D-1495-08		116265439	54849628	24	16496											
NKAIN2	154215	broad.mit.edu	37	chr6	124979424	124979424	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgacgtcagtgacaccTgccccagactgggccccaga	9	5	12	15	2	1	4	1	2	0	2	1	4	1	4	5	2	1	0	5	2	0	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:124979424T>A	ENST00000368417.1	+	4	426	c.366T>A	c.(364-366)ccT>ccA	p.P122P	NKAIN2_ENST00000545433.1_Silent_p.P107P|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Silent_p.P122P	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAGTGACACCTGCCCCAGACT	0.502																																						uc003pzo.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19						c.(364-366)ccT>ccA		Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.							160	133	142					6																	124979424		2203	4300	6503	SO:0001819	synonymous_variant	154215					integral to membrane|plasma membrane		g.chr6:124979424T>A	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.366T>A	6.37:g.124979424T>A						NKAIN2_uc003pzn.1_Silent_p.P122P|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Silent_p.P121P|NKAIN2_uc010ker.3_Silent_p.P32P	p.P122P	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	3	643	+			122					Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.366T>A	CCDS34526.1																																																																																				0.502	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		A	124979424	T	A	124979424	2	1	234	1	0	0	0	0	0	0	0	1	10436	1567	55	5		5	NKAIN2	6	124979424	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	8713985	124979424	46135643	25	16497											
NOX3	50508	broad.mit.edu	37	chr6	155743923	155743923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactccgatccccgcggcaaCgcacacacacactgggtagt	10	5	10	16	4	0	0	0	0	0	0	2	2	2	0	3	2	1	3	3	2	2	1	rs200781503		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:155743923C>T	ENST00000159060.2	-	10	1315	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	405					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCCGCGGCAACGCACACACAC	0.537																																						uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1213-1215)Gtt>Att		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.							137	134	135					6																	155743923		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743923C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1213G>A	6.37:g.155743923C>T	ENSP00000159060:p.Val405Ile						p.V405I	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1316	-		Breast(66;0.0183)	405					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1213G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	c	5.479	0.273409	0.10403	.	.	ENSG00000074771	ENST00000159060	T	0.60672	0.17	5.81	-4.5	0.03493	Ferric reductase, NAD binding (1);	0.609935	0.16441	N	0.214295	T	0.16041	0.0386	N	0.12920	0.275	0.22581	N	0.998963	B	0.10296	0.003	B	0.08055	0.003	T	0.13818	-1.0495	10	0.29301	T	0.29	-1.7004	14.2651	0.66113	0.0:0.5284:0.0:0.4716	.	405	Q9HBY0	NOX3_HUMAN	I	405	ENSP00000159060:V405I	ENSP00000159060:V405I	V	-	1	0	NOX3	155785615	0.997000	0.39634	0.033000	0.17914	0.007000	0.05969	0.414000	0.21164	-1.169000	0.02772	-1.507000	0.00952	GTT		0.537	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			T	155743923	C	T	155743923	3	4	234	1	0	0	0	0	1	0	0	0	10557	536	19	1	509	1	NOX3	6	155743923	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	30764499	155743923	15371144	26	16498											
PLG	5340	broad.mit.edu	37	chr6	161134138	161134138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagagatatgactactgCgacattcttgagtgtgaagg	14	10	12	5	1	1	4	0	3	1	1	1	7	1	4	0	1	2	0	0	1	5	4	rs558599800		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:161134138C>T	ENST00000308192.9	+	5	591	c.528C>T	c.(526-528)tgC>tgT	p.C176C	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	176	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGACTACTGCGACATTCTTG	0.473																																						uc003qtm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(526-528)tgC>tgT		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						144	139	141					6																	161134138		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134138C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.528C>T	6.37:g.161134138C>T							p.C176C	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	4	640	+			176			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.528C>T	CCDS5279.1																																																																																				0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161134138	C	T	161134138	2	4	234	1	0	0	0	0	0	0	0	1	12086	776	27	1		1	PLG	6	161134138	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	5390215	161134138	9980929	27	16499											
NPC1L1	29881	broad.mit.edu	37	chr7	44560418	44560418	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtatgctgccaggcCgctgcaagaaggtcagggca	8	7	16	10	1	1	1	1	0	0	1	1	1	1	1	2	4	4	6	2	4	3	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:44560418C>T	ENST00000289547.4	-	14	3137	c.3082G>A	c.(3082-3084)Ggc>Agc	p.G1028S	NPC1L1_ENST00000546276.1_Splice_Site_p.G982S|NPC1L1_ENST00000381160.3_Splice_Site_p.G1028S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1028					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCCAGGCCGCTGCAAGAA	0.572																																						uc003tlb.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.e14-1		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)						83	78	80					7																	44560418		2203	4300	6503	SO:0001630	splice_region_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560418C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3081-1G>A	7.37:g.44560418C>T						NPC1L1_uc011kbw.2_Splice_Site_p.G981_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G1027_splice|NPC1L1_uc003tla.3_Splice_Site_p.G30_splice	p.G1027_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			14	3137	-			1027					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3081_splice	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307651	0.60305	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.97870	-3.84;-4.39;-4.58	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.85859	2.78	0.50813	D	0.999899	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	D	0.99636	1.0987	10	0.66056	D	0.02	-30.9264	15.2951	0.73898	0.0:1.0:0.0:0.0	.	982;1028;1028;1028	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	S	1028;1028;982	ENSP00000289547:G1028S;ENSP00000370552:G1028S;ENSP00000438033:G982S	ENSP00000289547:G1028S	G	-	1	0	NPC1L1	44526943	0.988000	0.35896	0.925000	0.36789	0.194000	0.23727	4.296000	0.59055	2.214000	0.71695	0.462000	0.41574	GGC		0.572	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	Missense_Mutation	T	44560418	C	T	44560418	5	4	234	1	0	0	0	0	0	0	1	0	10571	666	23	2	1025	2	NPC1L1	7	44560418	Splice_Site	SNP	C	TCGA-32-2638-01A-01D-1495-08		44560418	114578245	28	16500											
CACNA2D1	781	broad.mit.edu	37	chr7	81594957	81594957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagaagaaacccaccatCatccagaatcacacaatcca	18	5	3	15	0	3	3	3	0	0	3	5	3	5	3	4	0	1	0	4	0	4	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:81594957C>T	ENST00000356253.5	-	32	2818	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D55N|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D843N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	855					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D843N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AACCCACCATCATCCAGAATC	0.368																																						uc003uhr.1																			1	Substitution - Missense(1)	p.D843N(2)	lung(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2527-2529)Gat>Aat		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						153	136	142					7																	81594957		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594957C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2563G>A	7.37:g.81594957C>T	ENSP00000348589:p.Asp855Asn					CACNA2D1_uc011kgy.1_Missense_Mutation_p.D55N	p.D843N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			31	2783	-			855					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2527G>A		.	.	.	.	.	.	.	.	.	.	C	13.72	2.321307	0.41096	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	D;D;D	0.82344	-1.6;-1.6;-1.6	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	M	0.74647	2.275	0.45354	D	0.998349	D;D	0.89917	1.0;1.0	D;D	0.75484	0.984;0.986	D	0.85496	0.1188	10	0.05620	T	0.96	-24.6422	18.672	0.91514	0.0:1.0:0.0:0.0	.	55;843	B7Z658;P54289-2	.;.	N	843;862;855;55	ENSP00000349320:D843N;ENSP00000348589:D855N;ENSP00000443124:D55N	ENSP00000284088:D862N	D	-	1	0	CACNA2D1	81432893	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.561000	0.67339	2.407000	0.81776	0.591000	0.81541	GAT		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81594957	C	T	81594957	3	4	234	1	0	0	0	0	1	0	0	0	2548	826	29	3	780	3	CACNA2D1	7	81594957	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	37034539	81594957	77543706	29	16501											
ZNF804B	219578	broad.mit.edu	37	chr7	88965893	88965893	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccgtacagacagttccAgttcaccagcacacttctat	12	10	5	14	1	3	1	2	0	1	1	4	1	4	1	3	0	3	4	3	0	3	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:88965893A>G	ENST00000333190.4	+	4	4206	c.3597A>G	c.(3595-3597)ccA>ccG	p.P1199P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1199							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACAGTTCCAGTTCACCAGC	0.502										HNSCC(36;0.09)																												uc011khi.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3595-3597)ccA>ccG		Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.							162	131	142					7																	88965893		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965893A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3597A>G	7.37:g.88965893A>G		HNSCC(36;0.09)					p.P1199P	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	4135	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1199					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.3597A>G	CCDS5613.1																																																																																				0.502	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88965893	A	G	88965893	2	3	234	1	0	0	0	0	0	0	0	1	18168	175	7	4		4	ZNF804B	7	88965893	Silent	SNP	A	TCGA-32-2638-01A-01D-1495-08	7370936	88965893	70172770	30	16502											
MUC17	140453	broad.mit.edu	37	chr7	100680859	100680859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtatgcctgtcagcactacGcttgtggtcagttctgaggg	6	12	14	9	1	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	4	rs534149898		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:100680859G>A	ENST00000306151.4	+	3	6226	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2054	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACTACGCTTGTGGTCA	0.493													G|||	1	0.000199681	0	0	5008	,	,		26212	0		0	False		,,,				2504	0.001					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6160-6162)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							172	164	166					7																	100680859		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680859G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6162G>A	7.37:g.100680859G>A						MUC17_uc010lho.1_Non-coding_Transcript	p.T2054T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	6215	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2054			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6162G>A	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680859	G	A	100680859	2	1	234	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100680859	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	11714966	100680859	58457804	31	16503											
TFEC	22797	broad.mit.edu	37	chr7	115590932	115590932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattgttgaactcacggatCattagactttggaataagag	13	13	10	5	1	2	4	2	2	0	2	2	6	2	6	0	2	1	1	0	2	4	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:115590932C>T	ENST00000265440.7	-	6	691	c.511G>A	c.(511-513)Gat>Aat	p.D171N	TFEC_ENST00000320239.7_Missense_Mutation_p.D142N|TFEC_ENST00000393485.1_Missense_Mutation_p.D142N|TFEC_ENST00000457268.1_Missense_Mutation_p.D104N|TFEC_ENST00000484212.1_Missense_Mutation_p.D261N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	171	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTCACGGATCATTAGACTTT	0.323																																						uc003vhj.2																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(511-513)Gat>Aat		Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.							41	44	43					7																	115590932		2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115590932C>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.511G>A	7.37:g.115590932C>T	ENSP00000265440:p.Asp171Asn					TFEC_uc003vhm.2_Missense_Mutation_p.D104N|TFEC_uc003vhk.2_Missense_Mutation_p.D142N|TFEC_uc003vhl.4_Missense_Mutation_p.D142N|TFEC_uc011kmw.2_Missense_Mutation_p.D261N	p.D171N	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	764	-			171			Helix-loop-helix motif.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.511G>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219540	0.95139	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (5);	0.101254	0.64402	D	0.000003	D	0.98229	0.9414	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;0.999	D;D;D;D	0.73708	0.96;0.969;0.981;0.962	D	0.99636	1.0987	10	0.87932	D	0	.	16.9012	0.86114	0.0:1.0:0.0:0.0	.	261;142;142;171	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	N	171;104;142;142;261	ENSP00000265440:D171N;ENSP00000387650:D104N;ENSP00000318676:D142N;ENSP00000377125:D142N;ENSP00000417432:D261N	ENSP00000265440:D171N	D	-	1	0	TFEC	115378168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.409000	0.81822	0.655000	0.94253	GAT		0.323	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		T	115590932	C	T	115590932	3	4	234	1	0	0	0	0	1	0	0	0	15799	826	29	3	544	3	TFEC	7	115590932	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	14910073	115590932	43547731	32	16504											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.3		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1315)|p.W110*(58)|p.?(44)|p.L165L(2)|p.A109V(2)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(328-330)tGg>tAg		Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.							18	20	20					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971029C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Silent_p.L124L	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	635	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		T	21971029	C	T	21971029	4	4	234	1	0	0	0	0	0	1	0	0	3161	595	21	3	149	3	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		21971029	119242402	33	16505											
IKBKAP	8518	broad.mit.edu	37	chr9	111659518	111659518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccctggacaggtagacaCtgctggtaactggtgcaggg	9	8	15	9	0	0	1	0	0	0	1	1	3	1	2	1	5	3	4	1	5	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:111659518C>A	ENST00000374647.5	-	23	2718	c.2411G>T	c.(2410-2412)aGt>aTt	p.S804I	IKBKAP_ENST00000537196.1_Missense_Mutation_p.S455I	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	804					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGGTAGACACTGCTGGTAAC	0.463																																						uc004bdm.4																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2410-2412)aGt>aTt		Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.							199	170	180					9																	111659518		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111659518C>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2411G>T	9.37:g.111659518C>A	ENSP00000363779:p.Ser804Ile					IKBKAP_uc004bdl.3_Missense_Mutation_p.S455I|IKBKAP_uc011lwc.2_Missense_Mutation_p.S690I|IKBKAP_uc010mtq.3_Missense_Mutation_p.S455I	p.S804I	NM_003640	NP_003631	O95163	ELP1_HUMAN			22	2931	-			804					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2411G>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909885	0.17833	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.27256	1.68;1.68	5.37	-1.59	0.08453	.	0.711491	0.15013	N	0.285435	T	0.20333	0.0489	M	0.66297	2.02	0.09310	N	1	B	0.14438	0.01	B	0.18263	0.021	T	0.24190	-1.0167	10	0.41790	T	0.15	0.3458	2.0735	0.03618	0.1106:0.1781:0.3133:0.398	.	804	O95163	ELP1_HUMAN	I	804;455	ENSP00000363779:S804I;ENSP00000439367:S455I	ENSP00000363779:S804I	S	-	2	0	IKBKAP	110699339	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.222000	0.09190	-0.130000	0.11599	-0.251000	0.11542	AGT		0.463	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			A	111659518	C	A	111659518	3	1	234	1	0	0	0	0	1	0	0	0	7610	565	20	5	1647	5	IKBKAP	9	111659518	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	89688489	111659518	29553913	34	16506											
EHMT1	79813	broad.mit.edu	37	chr9	140638536	140638536	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcggaggctgatcgcgcCcagaaggtatgtgttgctgt	7	11	15	8	3	0	2	0	1	0	1	2	3	0	3	1	3	1	4	1	3	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:140638536C>A	ENST00000460843.1	+	6	1191	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	EHMT1_ENST00000334856.6_Silent_p.A357A|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.A388A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	388			A -> T (in dbSNP:rs11137198).		chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGATCGCGCCCAGAAGGTAT	0.567																																						uc011mfc.2																			0		p.S387S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1162-1164)gcC>gcA		Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.							60	63	62					9																	140638536		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140638536C>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1164C>A	9.37:g.140638536C>A						EHMT1_uc004coa.3_Silent_p.A388A|EHMT1_uc004cob.1_Silent_p.A357A	p.A388A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	1201	+	all_cancers(76;0.164)		388		A -> T (in dbSNP:rs11137198).			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.1164C>A	CCDS7050.2																																																																																				0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		A	140638536	C	A	140638536	2	1	234	1	0	0	0	0	0	0	0	1	4983	610	22	5		5	EHMT1	9	140638536	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	28979018	140638536	574895	35	16507											
KIAA1462	57608	broad.mit.edu	37	chr10	30336587	30336587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacgatgtgcgagggccGcagggccatcctcatgcccg	6	8	13	14	4	2	0	1	0	1	0	3	2	3	0	4	2	3	1	4	2	1	1	rs201422216	byFrequency	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr10:30336587G>A	ENST00000375377.1	-	2	256	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	52					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCGAGGGCCGCAGGGCCATC	0.677													G|||	2	0.000399361	0.0015	0	5008	,	,		17098	0		0	False		,,,				2504	0					uc009xle.2																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(154-156)gCg>gTg		Homo sapiens KIAA1462 (KIAA1462), mRNA.		G	VAL/ALA	0,4064		0,0,2032	48	54	52		155	3	0	10		52	2,8346		0,2,4172	no	missense	KIAA1462	NM_020848.2	64	0,2,6204	AA,AG,GG		0.024,0.0,0.0161	possibly-damaging	52/1360	30336587	2,12410	2032	4174	6206	SO:0001583	missense	57608							g.chr10:30336587G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.155C>T	10.37:g.30336587G>A	ENSP00000364526:p.Ala52Val					KIAA1462_uc001iux.3_Missense_Mutation_p.A52V|KIAA1462_uc001iuy.3_Missense_Mutation_p.A52V|KIAA1462_uc001iuz.3_5'UTR	p.A52V	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	292	-			52					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.155C>T	CCDS41500.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.89	2.965407	0.53507	0.0	2.4E-4	ENSG00000165757	ENST00000375377	T	0.13901	2.55	4.95	2.95	0.34219	.	0.659654	0.14204	N	0.334538	T	0.11495	0.0280	L	0.57536	1.79	0.09310	N	1	P	0.51057	0.941	B	0.39027	0.288	T	0.13845	-1.0494	10	0.14252	T	0.57	-8.0174	7.7148	0.28698	0.0914:0.1645:0.7442:0.0	.	52	Q9P266	K1462_HUMAN	V	52	ENSP00000364526:A52V	ENSP00000364526:A52V	A	-	2	0	KIAA1462	30376593	0.003000	0.15002	0.002000	0.10522	0.014000	0.08584	1.504000	0.35726	1.223000	0.43536	0.467000	0.42956	GCG		0.677	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30336587	G	A	30336587	3	1	234	1	0	0	0	0	1	0	0	0	8234	1087	38	1	3936	1	KIAA1462	10	30336587	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		30336587	105198160	36	16508											
LRDD	79751	broad.mit.edu	37	chr11	800341	800341	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgcccacctggccccGcacagcctgagcctcccggt	4	5	9	23	3	0	1	0	1	0	0	2	1	1	1	9	2	2	1	9	2	0	0	rs551604416		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:800341G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.R718W|PIDD_ENST00000411829.2_Intron	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTGGCCCCGCACAGCCTGA	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		15463	0		0	False		,,,				2504	0				Colon(93;848 1468 3270 23355 49636)	uc001lro.2																			0											c.(2152-2154)Cgg>Tgg		Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.							49	50	50					11																	800341		2202	4299	6501	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800341G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800341G>A	Exception_encountered					SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Intron|PIDD_uc001lrl.1_Missense_Mutation_p.R561W|PIDD_uc001lrm.1_Missense_Mutation_p.R405W|PIDD_uc001lrn.2_Missense_Mutation_p.R561W|PIDD_uc001lrk.2_Intron|PIDD_uc001lrp.2_Intron	p.R718W	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN			12	2299	-			718					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	c.2152C>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008998	0.75046	.	.	ENSG00000177595	ENST00000347755	T	0.46063	0.88	4.24	2.02	0.26589	.	0.134868	0.48286	D	0.000184	T	0.46946	0.1419	L	0.27053	0.805	0.37841	D	0.929046	D;D	0.89917	1.0;1.0	D;D	0.78314	0.971;0.991	T	0.52298	-0.8594	10	0.62326	D	0.03	.	10.4014	0.44231	0.0:0.0:0.2955:0.7045	.	718;561	Q9HB75;Q9HB75-3	PIDD_HUMAN;.	W	718	ENSP00000337797:R718W	ENSP00000337797:R718W	R	-	1	2	PIDD	790341	0.994000	0.37717	0.998000	0.56505	0.923000	0.55619	2.052000	0.41316	0.862000	0.35528	0.462000	0.41574	CGG		0.627	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			A	800341	G	A	800341	1	1	234	0	1	0	0	0	0	0	0	0	8936	1086	38	1		1	LRDD	11	800341	5'Flank	SNP	G	TCGA-32-2638-01A-01D-1495-08		800341	134206175	37	16509											
OR51T1	401665	broad.mit.edu	37	chr11	4904033	4904033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaagaccaagacaatcCgccaggctatgttccagctg	11	8	10	12	1	0	3	0	1	0	2	2	3	2	3	4	1	1	4	4	1	4	3	rs201004265		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:4904033C>T	ENST00000322049.1	+	1	904	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	OR51T1_ENST00000380378.1_Missense_Mutation_p.R329C|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGACAATCCGCCAGGCTAT	0.488																																						uc010qyp.2																			0		p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(985-987)Cgc>Tgc		Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.		C	CYS/ARG	0,4402		0,0,2201	96	91	92		985	4	1	11		92	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51T1	NM_001004759.1	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	329/355	4904033	1,12997	2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904033C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.904C>T	11.37:g.4904033C>T	ENSP00000322679:p.Arg302Cys						p.R329C	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	985	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	302					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.985C>T		.	.	.	.	.	.	.	.	.	.	C	19.46	3.831063	0.71258	0.0	1.16E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.41003	0.1140	N	0.08118	0	0.49582	D	0.999802	D	0.76494	0.999	P	0.53689	0.732	T	0.40515	-0.9559	10	0.72032	D	0.01	.	8.397	0.32564	0.1545:0.761:0.0:0.0846	.	302	Q8NGJ9	O51T1_HUMAN	C	329;302	ENSP00000369738:R329C;ENSP00000322679:R302C	ENSP00000322679:R302C	R	+	1	0	OR51T1	4860609	0.002000	0.14202	0.953000	0.39169	0.993000	0.82548	0.691000	0.25467	2.595000	0.87683	0.491000	0.48974	CGC		0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		T	4904033	C	T	4904033	3	4	234	1	0	0	0	0	1	0	0	0	11106	652	23	2	987	2	OR51T1	11	4904033	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	4103692	4904033	130102483	38	16510											
OR52H1	390067	broad.mit.edu	37	chr11	5565836	5565836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtataaccttatctctgatCtgcttggtcttcactccgta	8	16	6	11	1	4	1	1	1	3	0	6	1	5	1	2	1	2	3	2	1	4	6			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:5565836C>A	ENST00000322653.4	-	1	943	c.918G>T	c.(916-918)caG>caT	p.Q306H	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTCTGATCTGCTTGGTCT	0.403																																						uc010qzh.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(916-918)caG>caT		Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.							149	144	146					11																	5565836		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5565836C>A	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.918G>T	11.37:g.5565836C>A	ENSP00000326259:p.Gln306His					HBG1_uc001mak.1_Intron	p.Q306H	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	918	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	306					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.918G>T	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687591	0.29962	.	.	ENSG00000181616	ENST00000322653	T	0.38887	1.11	5.22	4.1	0.47936	.	0.114616	0.39544	N	0.001323	T	0.46833	0.1413	M	0.89353	3.025	0.34454	D	0.701043	B	0.20671	0.047	B	0.20577	0.03	T	0.62196	-0.6905	10	0.72032	D	0.01	.	7.0831	0.25241	0.0:0.7637:0.0:0.2363	.	306	Q8NGJ2	O52H1_HUMAN	H	306	ENSP00000326259:Q306H	ENSP00000326259:Q306H	Q	-	3	2	OR52H1	5522412	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.510000	0.35790	2.430000	0.82344	0.650000	0.86243	CAG		0.403	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		A	5565836	C	A	5565836	3	1	234	1	0	0	0	0	1	0	0	0	11119	912	32	5	47	5	OR52H1	11	5565836	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	661803	5565836	129440680	39	16511											
TRIM22	10346	broad.mit.edu	37	chr11	5730417	5730417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcttttggtgtcttcGgctgccaatatttctcttcg	3	20	8	10	2	3	0	0	0	3	0	6	0	3	0	1	2	2	2	1	2	2	7	rs371728648		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:5730417G>A	ENST00000379965.3	+	8	1313	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGGTGTCTTCGGCTGCCAATA	0.408																																					GBM(104;491 2336 5222)	uc001mbr.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1036-1038)Ggc>Agc		Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.		G	SER/GLY,SER/GLY	0,3682		0,0,1841	127	120	122		1024,1036	3	0	11		122	1,8189		0,1,4094	no	missense,missense	TRIM22	NM_001199573.1,NM_006074.4	56,56	0,1,5935	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	342/495,346/499	5730417	1,11871	1841	4095	5936	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730417G>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1036G>A	11.37:g.5730417G>A	ENSP00000369299:p.Gly346Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.G174S|TRIM22_uc009yes.3_Missense_Mutation_p.G342S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	p.G346S	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	7	1415	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	346			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1036G>A	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768312	0.90020	0.0	1.22E-4	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.71817	-0.6	3.94	3.02	0.34903	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	D	0.84777	0.5547	M	0.89214	3.015	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.73739	-0.3888	9	0.87932	D	0	.	9.9672	0.41732	0.1066:0.0:0.8934:0.0	.	268;342;346	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	S	346;157;268	ENSP00000369299:G346S	ENSP00000369299:G346S	G	+	1	0	TRIM22	5686993	1.000000	0.71417	0.019000	0.16419	0.921000	0.55340	4.140000	0.58031	0.960000	0.38005	0.460000	0.39030	GGC		0.408	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		A	5730417	G	A	5730417	3	1	234	1	0	0	0	0	1	0	0	0	16493	1116	39	2	1062	2	TRIM22	11	5730417	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	164581	5730417	129276099	40	16512											
MPEG1	219972	broad.mit.edu	37	chr11	58978683	58978683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcactttttcagagaCggtgcccctaaatctctgga	8	10	11	12	2	2	1	1	0	1	1	3	3	2	2	3	4	1	1	3	4	2	3	rs545638736		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:58978683C>T	ENST00000361050.3	-	1	1741	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	552			P -> L (in dbSNP:rs7926933). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTTTCAGAGACGGTGCCCCTA	0.567													C|||	1	0.000199681	0	0	5008	,	,		15840	0		0	False		,,,				2504	0.001					uc001nnu.4																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1654-1656)ccG>ccA		Homo sapiens macrophage expressed 1 (MPEG1), mRNA.							42	46	44					11																	58978683		1865	4095	5960	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58978683C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1656G>A	11.37:g.58978683C>T							p.P552P	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			0	1812	-		all_epithelial(135;0.125)	552		P -> L (in dbSNP:rs7926933).			Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.1656G>A	CCDS41650.1																																																																																				0.567	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		T	58978683	C	T	58978683	2	4	234	1	0	0	0	0	0	0	0	1	9723	523	19	1		1	MPEG1	11	58978683	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	53248266	58978683	76027833	41	16513											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260048	71260048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagctgctgtaagccctgTtgctcctcctcgggtcgtgg	3	12	13	13	2	0	0	0	0	0	0	4	0	2	0	3	2	5	6	3	2	1	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:71260048T>C	ENST00000528743.2	+	1	583	c.345T>C	c.(343-345)tgT>tgC	p.C115C		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	115	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GTAAGCCCTGTTGCTCCTCCT	0.622																																						uc001oqs.1																			0				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(343-345)tgT>tgC		Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.							111	125	120					11																	71260048		2191	4293	6484	SO:0001819	synonymous_variant	3846				epidermis development	keratin filament		g.chr11:71260048T>C	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.345T>C	11.37:g.71260048T>C							p.C115C	NM_005553	NP_005544	P26371	KRA59_HUMAN			0	583	+			115			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	c.345T>C	CCDS53677.1																																																																																				0.622	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			C	71260048	T	C	71260048	2	2	234	1	0	0	0	0	0	0	0	1	8568	1731	60	4		4	KRTAP5-9	11	71260048	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	12281365	71260048	63746468	42	16514											
NCAM1	4684	broad.mit.edu	37	chr11	113103495	113103496	+	Frame_Shift_Ins	INS	-	-	CATTGGGC																															aactgtactgcagtgaaccgINScattgggcaggagtccttgg																								rs367640227		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:113103495_113103496insCATTGGGC	ENST00000533760.1	+	11	1696_1697	c.1097_1098insCATTGGGC	c.(1096-1101)cgcattfs	p.-367fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.-494fs|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.-485fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGTGAACCGCATTGGGCAGG	0.51																																						uc021qqp.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1552-1554)cgcfs		Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113103495_113103496insCATTGGGC		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1098_1105dupCATTGGGC	11.37:g.113103496_113103503dupCATTGGGC	ENSP00000473281:p.Ile367fs					NCAM1_uc001pnp.3_Frame_Shift_Ins_p.R482fs|NCAM1_uc021qqo.1_Frame_Shift_Ins_p.R482fs|NCAM1_uc001pnq.3_Frame_Shift_Ins_p.R492fs|NCAM1_uc001pnr.3_Frame_Shift_Ins_p.R482fs	p.R518fs	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1925_1926	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	494			Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.1553_1554insCATTGGGC																																																																																					0.51	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		CATTGGGC	113103496	-	CATTGGGC	113103495	7	5	234	1	0	1	1	0	0	0	0	0	10202	1087	38	0	1528	0	NCAM1	11	113103495	Frame_Shift_Ins	INS	-	TCGA-32-2638-01A-01D-1495-08	41843447	113103495	21903021	43	16515											
SIK3	23387	broad.mit.edu	37	chr11	116732043	116732043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactattactgggctgcCtgaagagatggttgttgggg	8	11	17	5	0	0	2	0	1	0	1	0	5	0	3	1	5	2	3	1	5	3	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:116732043C>T	ENST00000292055.4	-	18	2089	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.R743K|SIK3_ENST00000542607.1_Missense_Mutation_p.R685K|SIK3_ENST00000446921.2_Missense_Mutation_p.R743K|SIK3_ENST00000434315.2_Missense_Mutation_p.R584K|SIK3_ENST00000375288.1_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	685	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACTGGGCTGCCTGAAGAGATG	0.493											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001ppy.3																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2053-2055)aGg>aAg		Homo sapiens SIK family kinase 3 (SIK3), mRNA.							85	91	89					11																	116732043		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116732043C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2054G>A	11.37:g.116732043C>T	ENSP00000292055:p.Arg685Lys		OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_uc001ppz.3_Missense_Mutation_p.R584K|SIK3_uc001pqa.3_Missense_Mutation_p.R685K|SIK3_uc001ppw.3_Missense_Mutation_p.R102K|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_5'UTR	p.R685K	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			17	2090	-			685			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2054G>A	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	c	33	5.253198	0.95336	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.83	4.92	0.64577	Protein kinase-like domain (1);	0.000000	0.45361	U	0.000377	T	0.40222	0.1108	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.995	D;D;D	0.75484	0.986;0.98;0.98	T	0.30765	-0.9967	10	0.72032	D	0.01	.	14.4599	0.67442	0.0:0.9286:0.0:0.0714	.	685;584;685	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	K	743;685;685;584	ENSP00000364449:R743K;ENSP00000292055:R685K;ENSP00000438108:R685K;ENSP00000415873:R584K	ENSP00000292055:R685K	R	-	2	0	SIK3	116237253	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.679000	0.61649	1.461000	0.47929	0.655000	0.94253	AGG		0.493	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		T	116732043	C	T	116732043	3	4	234	1	0	0	0	0	1	0	0	0	14319	681	24	3	1761	3	SIK3	11	116732043	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	3628548	116732043	18274473	44	16516											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985628	117985628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcattggatggggctttaCgaagcagaatggaggtaagt	12	10	15	4	1	1	1	1	0	0	1	1	5	1	3	0	5	2	3	0	5	4	4	rs201401144		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:117985628C>T	ENST00000437212.3	+	10	1209	c.995C>T	c.(994-996)aCg>aTg	p.T332M	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.T327M|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.T292M|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.T185M|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.T330M			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGGGGCTTTACGAAGCAGAAT	0.572																																						uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(994-996)aCg>aTg		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4400		0,0,2200	42	34	37		980,989,875,995	3.4	0.8	11		37	3,8589	2.2+/-6.3	0,3,4293	yes	missense,missense,missense,missense	TMPRSS4	NM_001083947.1,NM_001173551.1,NM_001173552.1,NM_019894.3	81,81,81,81	0,3,6493	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	327/433,330/436,292/398,332/438	117985628	3,12989	2200	4296	6496	SO:0001583	missense	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117985628C>T	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.995C>T	11.37:g.117985628C>T	ENSP00000416037:p.Thr332Met					TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.T327M|TMPRSS4_uc010rxo.2_Missense_Mutation_p.T330M|TMPRSS4_uc010rxs.2_Missense_Mutation_p.T292M|TMPRSS4_uc010rxq.2_Missense_Mutation_p.T185M|TMPRSS4_uc010rxr.2_Missense_Mutation_p.T307M|TMPRSS4_uc010rxt.2_Missense_Mutation_p.T307M	p.T332M	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	9	1286	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	332			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	c.995C>T	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623322	0.28889	0.0	3.49E-4	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.58	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.095533	0.45606	D	0.000342	T	0.76126	0.3944	M	0.80746	2.51	0.44295	D	0.997165	D;D;D;D;D	0.76494	0.999;0.995;0.999;0.961;0.992	D;P;P;P;P	0.63488	0.915;0.543;0.773;0.716;0.454	T	0.78630	-0.2129	10	0.51188	T	0.08	.	12.3401	0.55089	0.0:0.8367:0.0:0.1633	.	307;292;185;332;330	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	M	330;185;292;332;327	ENSP00000435184:T330M;ENSP00000428814:T185M;ENSP00000429209:T292M;ENSP00000416037:T332M;ENSP00000430547:T327M	ENSP00000416037:T332M	T	+	2	0	TMPRSS4	117490838	0.634000	0.27190	0.750000	0.31169	0.027000	0.11550	2.358000	0.44134	1.360000	0.45960	0.561000	0.74099	ACG		0.572	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		T	117985628	C	T	117985628	3	4	234	1	0	0	0	0	1	0	0	0	16246	536	19	1	1033	1	TMPRSS4	11	117985628	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	1253585	117985628	17020888	45	16517											
TECTA	7007	broad.mit.edu	37	chr11	121037459	121037459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcctttcagatcaacaaCaccaaagggaattgtggaaa	16	9	7	9	0	3	1	2	0	1	1	4	3	3	3	2	2	2	0	2	2	5	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:121037459C>T	ENST00000392793.1	+	18	5827	c.5556C>T	c.(5554-5556)aaC>aaT	p.N1852N	TECTA_ENST00000264037.2_Silent_p.N1852N			O75443	TECTA_HUMAN	tectorin alpha	1852	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGATCAACAACACCAAAGGGA	0.498																																						uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(5554-5556)aaC>aaT		Homo sapiens tectorin alpha (TECTA), mRNA.							100	96	97					11																	121037459		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121037459C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5556C>T	11.37:g.121037459C>T							p.N1852N	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	16	5556	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1852			ZP.			Silent	SNP	ENST00000392793.1	37	c.5556C>T	CCDS8434.1																																																																																				0.498	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121037459	C	T	121037459	2	4	234	1	0	0	0	0	0	0	0	1	15744	477	17	3		3	TECTA	11	121037459	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	3051831	121037459	13969057	46	16518											
CLEC12A	160364	broad.mit.edu	37	chr12	10132026	10132026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttctctacaactgatGagtaacatgaatatctccaa	16	13	4	8	0	2	3	0	3	2	0	4	3	2	3	1	0	3	1	1	0	8	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:10132026G>T	ENST00000304361.4	+	3	464	c.282G>T	c.(280-282)atG>atT	p.M94I	CLEC12A_ENST00000350667.4_Missense_Mutation_p.M61I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.M94I|CLEC12A_ENST00000355690.4_Missense_Mutation_p.M104I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.M104I(1)|p.M94I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TACAACTGATGAGTAACATGA	0.363																																					Melanoma(197;1487 2125 16611 22221 34855)	uc001qwq.3																			2	Substitution - Missense(2)	p.M104I(1)|p.M94I(1)	lung(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(310-312)atG>atT		Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.							78	71	73					12																	10132026		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10132026G>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.282G>T	12.37:g.10132026G>T	ENSP00000302804:p.Met94Ile					CLEC12A_uc001qwr.4_Missense_Mutation_p.M94I|CLEC12A_uc001qws.4_Missense_Mutation_p.M61I|CLEC12A_uc001qwt.3_Missense_Mutation_p.M23I	p.M104I	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN			3	343	+			94					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.312G>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	7.104	0.574580	0.13623	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.06068	4.62;3.35;4.63;4.07;4.48	4.72	0.775	0.18527	C-type lectin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.17674	0.51	0.09310	N	1	B;B;B	0.17667	0.023;0.013;0.023	B;B;B	0.15052	0.012;0.005;0.012	T	0.42899	-0.9424	9	0.37606	T	0.19	.	3.8031	0.08765	0.3015:0.1838:0.5147:0.0	.	61;94;104	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	I	104;94;94;94;61	ENSP00000347916:M104I;ENSP00000379764:M94I;ENSP00000302804:M94I;ENSP00000405244:M94I;ENSP00000345448:M61I	ENSP00000302804:M94I	M	+	3	0	CLEC12A	10023293	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.015000	0.12634	0.277000	0.22141	0.650000	0.86243	ATG		0.363	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		T	10132026	G	T	10132026	3	4	234	1	0	0	0	0	1	0	0	0	3497	1290	45	5	292	5	CLEC12A	12	10132026	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		10132026	123719869	47	16519											
ITGB7	3695	broad.mit.edu	37	chr12	53590523	53590523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactggcagcgctccagcCgggtggggcaggggtggcgc	4	5	21	11	3	0	1	0	1	0	0	1	1	1	1	2	7	2	3	2	7	0	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:53590523C>T	ENST00000267082.5	-	6	887	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	ITGB7_ENST00000338737.4_Missense_Mutation_p.R219Q|ITGB7_ENST00000550743.2_Missense_Mutation_p.R219Q|ITGB7_ENST00000422257.3_Missense_Mutation_p.R219Q	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	219	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGCTCCAGCCGGGTGGGGCA	0.617																																						uc009zmv.3																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(655-657)cGg>cAg		Homo sapiens integrin, beta 7 (ITGB7), mRNA.																																				SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53590523C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.656G>A	12.37:g.53590523C>T	ENSP00000267082:p.Arg219Gln					ITGB7_uc001scc.3_Missense_Mutation_p.R219Q|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	p.R219Q	NM_000889	NP_000880	P26010	ITB7_HUMAN			4	727	-			219			VWFA.		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.656G>A	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154793	0.78114	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	5.05	5.05	0.67936	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.276459	0.19620	N	0.109932	D	0.94155	0.8125	L	0.28556	0.865	0.20489	N	0.999897	D	0.53745	0.962	P	0.46419	0.516	D	0.87693	0.2555	10	0.17369	T	0.5	.	13.2847	0.60237	0.1592:0.8408:0.0:0.0	.	219	P26010	ITB7_HUMAN	Q	219	ENSP00000408741:R219Q;ENSP00000267082:R219Q;ENSP00000345501:R219Q;ENSP00000437375:R219Q	ENSP00000267082:R219Q	R	-	2	0	ITGB7	51876790	0.014000	0.17966	0.991000	0.47740	0.878000	0.50629	1.249000	0.32839	2.523000	0.85059	0.555000	0.69702	CGG		0.617	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			T	53590523	C	T	53590523	3	4	234	1	0	0	0	0	1	0	0	0	7900	652	23	2	1784	2	ITGB7	12	53590523	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	43458497	53590523	80261372	48	16520											
ACACB	32	broad.mit.edu	37	chr12	109609642	109609642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggatcattacgtccccGtcccaggagggcccaataac	9	7	11	14	3	1	0	1	0	0	0	3	2	3	2	4	4	2	0	4	4	3	2	rs189283811	byFrequency	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:109609642G>A	ENST00000338432.7	+	5	1077	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	ACACB_ENST00000377854.5_Missense_Mutation_p.V320I|ACACB_ENST00000377848.3_Missense_Mutation_p.V320I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	320	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTACGTCCCCGTCCCAGGAGG	0.502													G|||	2	0.000399361	8e-04	0	5008	,	,		19631	0.001		0	False		,,,				2504	0					uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(958-960)Gtc>Atc		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						161	131	141					12																	109609642		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109609642G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.958G>A	12.37:g.109609642G>A	ENSP00000341044:p.Val320Ile					ACACB_uc001toc.3_Missense_Mutation_p.V320I	p.V320I	NM_001093	NP_001084	O00763	ACACB_HUMAN			4	1077	+			320			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.958G>A	CCDS31898.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.455612	0.96223	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.91945	-2.94;-2.94;-2.94	5.47	5.47	0.80525	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95116	0.8242	10	0.87932	D	0	.	19.3317	0.94293	0.0:0.0:1.0:0.0	.	320	O00763	ACACB_HUMAN	I	320	ENSP00000341044:V320I;ENSP00000367079:V320I;ENSP00000367085:V320I	ENSP00000341044:V320I	V	+	1	0	ACACB	108094025	1.000000	0.71417	0.955000	0.39395	0.922000	0.55478	9.797000	0.99108	2.582000	0.87167	0.561000	0.74099	GTC		0.502	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109609642	G	A	109609642	3	1	234	1	0	0	0	0	1	0	0	0	107	1145	40	1	972	1	ACACB	12	109609642	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	56019119	109609642	24242253	49	16521											
XPO4	64328	broad.mit.edu	37	chr13	21362729	21362729	+	Frame_Shift_Del	DEL	G	G	-																															cagataaatgtgattaatttGtagtactgattacaaagggt																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr13:21362729delG	ENST00000255305.6	-	20	3014	c.2943delC	c.(2941-2943)tacfs	p.Y981fs	XPO4_ENST00000400602.2_Frame_Shift_Del_p.Y981fs			Q9C0E2	XPO4_HUMAN	exportin 4	981					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGATTAATTTGTAGTACTGAT	0.299																																						uc001unq.4																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(2941-2943)tacfs		Homo sapiens exportin 4 (XPO4), mRNA.							55	57	56					13																	21362729		1798	4065	5863	SO:0001589	frameshift_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21362729delG	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2943delC	13.37:g.21362729delG	ENSP00000255305:p.Tyr981fs						p.Y981fs	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	19	2979	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	981					Q5VUZ5|Q8N3V6|Q9H934	Frame_Shift_Del	DEL	ENST00000255305.6	37	c.2943delC	CCDS41872.1																																																																																				0.299	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		-	21362729	G	-	21362729	7	5	234	1	0	1	0	1	0	0	0	0	17443	1372	48	0	528	0	XPO4	13	21362729	Frame_Shift_Del	DEL	G	TCGA-32-2638-01A-01D-1495-08		21362729	93807149	50	16522											
KCTD12	115207	broad.mit.edu	37	chr13	77459429	77459429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatgtggaagcccgactcGgacagcttgtcgaaggcctg	9	7	13	12	3	0	0	0	0	0	0	2	4	0	2	3	3	2	1	3	3	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr13:77459429G>A	ENST00000377474.2	-	1	1096	c.855C>T	c.(853-855)tcC>tcT	p.S285S	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.S285S	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	285					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		AGCCCGACTCGGACAGCTTGT	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vka.1																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(853-855)tcC>tcT		Homo sapiens potassium channel tetramerisation domain containing 12 (KCTD12), mRNA.							47	40	42					13																	77459429		2203	4300	6503	SO:0001819	synonymous_variant	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77459429G>A	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.855C>T	13.37:g.77459429G>A			OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1175	KCTD12_uc010aeu.1_Silent_p.S285S	p.S285S	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	0	1112	-		Breast(118;0.212)	285						Silent	SNP	ENST00000377474.2	37	c.855C>T	CCDS9455.1																																																																																				0.637	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		A	77459429	G	A	77459429	2	1	234	1	0	0	0	0	0	0	0	1	8099	1103	39	2		2	KCTD12	13	77459429	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	56096700	77459429	37710449	51	16523											
KCNH5	27133	broad.mit.edu	37	chr14	63447809	63447809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaggctatgttgttctgCtttgttttgaaggaaacatt	9	16	10	6	0	1	1	0	1	1	0	1	2	1	2	1	2	3	5	1	2	3	7			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:63447809C>T	ENST00000322893.7	-	6	991	c.723G>A	c.(721-723)aaG>aaA	p.K241K	KCNH5_ENST00000394964.2_Silent_p.K183K|KCNH5_ENST00000420622.2_Silent_p.K241K|KCNH5_ENST00000394968.1_Silent_p.K183K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	241					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K241K(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTTGTTCTGCTTTGTTTTGA	0.398																																						uc001xfx.3																			2	Substitution - coding silent(2)	p.K241K(4)	skin(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(721-723)aaG>aaA		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							78	80	79					14																	63447809		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447809C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.723G>A	14.37:g.63447809C>T						KCNH5_uc001xfy.3_Silent_p.K241K|KCNH5_uc001xfz.1_Silent_p.K183K|KCNH5_uc001xga.3_Silent_p.K183K	p.K241K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	774	-			241					C9JP98	Silent	SNP	ENST00000322893.7	37	c.723G>A	CCDS9756.1																																																																																				0.398	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63447809	C	T	63447809	2	4	234	1	0	0	0	0	0	0	0	1	8035	796	28	3		3	KCNH5	14	63447809	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08		63447809	43901731	52	16524											
KIAA1409	57578	broad.mit.edu	37	chr14	94052956	94052956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagcagtaaagaatgatAccgaaagaaaattttgctac	18	9	7	7	1	1	3	1	1	0	2	1	4	1	3	1	0	4	3	1	0	8	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:94052956A>G	ENST00000393151.2	+	21	2818	c.2818A>G	c.(2818-2820)Acc>Gcc	p.T940A	UNC79_ENST00000555664.1_Missense_Mutation_p.T940A|UNC79_ENST00000256339.4_Missense_Mutation_p.T763A|UNC79_ENST00000553484.1_Missense_Mutation_p.T940A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	940					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAAGAATGATACCGAAAGAAA	0.338																																						uc001ybv.1																			0		p.S762S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2287-2289)Acc>Gcc		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							53	52	52					14																	94052956		2202	4299	6501	SO:0001583	missense	57578					integral to membrane		g.chr14:94052956A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2818A>G	14.37:g.94052956A>G	ENSP00000376858:p.Thr940Ala					UNC79_uc001ybs.1_Missense_Mutation_p.T763A	p.T763A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			17	2370	+			940					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2287A>G		.	.	.	.	.	.	.	.	.	.	A	13.24	2.177975	0.38413	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17370	2.29;2.29;2.28;2.29	5.94	4.8	0.61643	.	0.057135	0.64402	D	0.000001	T	0.11110	0.0271	N	0.24115	0.695	0.34203	D	0.67342	P	0.37207	0.587	B	0.32724	0.151	T	0.21586	-1.0241	10	0.33940	T	0.23	-8.1266	11.9423	0.52907	0.9325:0.0:0.0675:0.0	.	940	C9JQL1	.	A	763;940;940;940;940	ENSP00000256339:T763A;ENSP00000450868:T940A;ENSP00000451360:T940A;ENSP00000376858:T940A	ENSP00000256339:T763A	T	+	1	0	KIAA1409	93122709	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.898000	0.56281	1.079000	0.41038	0.528000	0.53228	ACC		0.338	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		G	94052956	A	G	94052956	3	3	234	1	0	0	0	0	1	0	0	0	8230	391	14	4	2357	4	KIAA1409	14	94052956	Missense_Mutation	SNP	A	TCGA-32-2638-01A-01D-1495-08	30605147	94052956	13296584	53	16525											
SERPINA9	327657	broad.mit.edu	37	chr14	94933658	94933658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcacagtgacctgctcGcccaccaggaatgggaagtt	11	7	11	12	1	0	1	0	1	0	0	1	3	0	3	3	2	2	3	3	2	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:94933658G>A	ENST00000380365.3	-	3	768	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Silent_p.G248G|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000546329.1_Silent_p.G212G|SERPINA9_ENST00000298845.7_Silent_p.G148G|SERPINA9_ENST00000424550.2_Silent_p.G99G|SERPINA9_ENST00000448305.2_Silent_p.G150G			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	230					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGACCTGCTCGCCCACCAGGA	0.473																																						uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(742-744)ggC>ggT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.							69	67	68					14																	94933658		1970	4165	6135	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94933658G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.690C>T	14.37:g.94933658G>A						SERPINA9_uc001yde.3_Silent_p.G148G|SERPINA9_uc010avc.3_Silent_p.G99G|SERPINA9_uc001ydg.3_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G	p.G248G	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	905	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	230					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.744C>T																																																																																					0.473	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		A	94933658	G	A	94933658	2	1	234	1	0	0	0	0	0	0	0	1	14095	1074	38	1		1	SERPINA9	14	94933658	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	880702	94933658	12415882	54	16526											
TMCO5A	145942	broad.mit.edu	37	chr15	38239874	38239874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtactcctacccaaaaGacagcaagattattcagtaa	16	8	7	10	0	1	2	1	0	0	2	2	2	2	2	2	1	3	3	2	1	7	5	rs193920912		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr15:38239874G>C	ENST00000319669.4	+	10	747	c.645G>C	c.(643-645)aaG>aaC	p.K215N	TMCO5A_ENST00000540944.1_Missense_Mutation_p.K215N|TMCO5A_ENST00000559502.1_Missense_Mutation_p.K215N	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	215						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CTACCCAAAAGACAGCAAGAT	0.348																																						uc001zjw.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(643-645)aaG>aaC		Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.							68	71	70					15																	38239874		2200	4296	6496	SO:0001583	missense	145942					integral to membrane		g.chr15:38239874G>C	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.645G>C	15.37:g.38239874G>C	ENSP00000327234:p.Lys215Asn					TMCO5A_uc001zjv.1_Missense_Mutation_p.K215N	p.K215N	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			9	747	+			215					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.645G>C	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	G	7.702	0.693239	0.15039	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.61	-0.402	0.12404	.	0.722949	0.12342	N	0.477383	T	0.25568	0.0622	L	0.34521	1.04	0.09310	N	1	B;B	0.23540	0.033;0.087	B;B	0.22601	0.018;0.04	T	0.23297	-1.0192	9	0.54805	T	0.06	-5.8825	1.7784	0.03026	0.135:0.3791:0.2936:0.1923	.	215;215	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	N	215	.	ENSP00000327234:K215N	K	+	3	2	TMCO5A	36027166	0.067000	0.21026	0.010000	0.14722	0.007000	0.05969	0.236000	0.17967	0.122000	0.18314	0.563000	0.77884	AAG		0.348	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		C	38239874	G	C	38239874	3	2	234	1	0	0	0	0	1	0	0	0	15996	933	33	5	679	5	TMCO5A	15	38239874	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		38239874	64291518	55	16527											
SRRM2	23524	broad.mit.edu	37	chr16	2812739	2812739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaacaaatccagaacatCtcaaagaagaagcaggtcca	21	4	7	9	0	1	3	1	0	1	3	4	4	3	3	2	1	3	1	2	1	7	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr16:2812739C>T	ENST00000301740.8	+	11	2759	c.2210C>T	c.(2209-2211)tCt>tTt	p.S737F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	737	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGAACATCTCAAAGAAGA	0.448																																						uc002crk.3																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2209-2211)tCt>tTt		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							84	88	86					16																	2812739		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812739C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2210C>T	16.37:g.2812739C>T	ENSP00000301740:p.Ser737Phe					SRRM2_uc002crj.1_Missense_Mutation_p.S641F|SRRM2_uc002crl.1_Missense_Mutation_p.S737F|SRRM2_uc010bsu.1_Missense_Mutation_p.S641F	p.S737F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	2759	+			737			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2210C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.094	1.002356	0.19121	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.30182	1.54	5.8	5.8	0.92144	.	0.000000	0.53938	D	0.000045	T	0.42653	0.1212	N	0.24115	0.695	0.40261	D	0.978174	D	0.65815	0.995	D	0.67231	0.95	T	0.37478	-0.9704	10	0.66056	D	0.02	-12.4175	17.5501	0.87873	0.0:1.0:0.0:0.0	.	737	Q9UQ35	SRRM2_HUMAN	F	737;737;702	ENSP00000301740:S737F	ENSP00000301740:S737F	S	+	2	0	SRRM2	2752740	0.649000	0.27322	1.000000	0.80357	0.753000	0.42808	3.584000	0.53936	2.746000	0.94184	0.563000	0.77884	TCT		0.448	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2812739	C	T	2812739	3	4	234	1	0	0	0	0	1	0	0	0	15168	913	32	3	2248	3	SRRM2	16	2812739	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		2812739	87542014	56	16528											
VPS53	55275	broad.mit.edu	37	chr17	440383	440383	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgacgtaggggctctGgtcaccaacgtgctccacgt	8	8	14	11	3	2	2	1	1	1	1	3	2	3	2	2	4	2	3	2	4	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:440383G>A	ENST00000571805.1	-	18	2036	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Nonsense_Mutation_p.Q605*|VPS53_ENST00000437048.2_Nonsense_Mutation_p.Q634*|VPS53_ENST00000401468.3_Nonsense_Mutation_p.Q357*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.Q436*|RP5-1029F21.4_ENST00000570974.1_RNA			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	634					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TAGGGGCTCTGGTCACCAACG	0.547																																						uc010cjo.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1900-1902)Cag>Tag		Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.							152	103	120					17																	440383		2203	4300	6503	SO:0001587	stop_gained	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:440383G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1900C>T	17.37:g.440383G>A	ENSP00000459312:p.Gln634*					VPS53_uc002frk.3_Nonsense_Mutation_p.Q153*|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Nonsense_Mutation_p.Q605*|VPS53_uc002frn.2_Nonsense_Mutation_p.Q634*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q436*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q357*	p.Q634*	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	17	2047	-			634					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Nonsense_Mutation	SNP	ENST00000571805.1	37	c.1900C>T		.	.	.	.	.	.	.	.	.	.	G	46	12.626409	0.99683	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.1476	19.1891	0.93656	0.0:0.0:1.0:0.0	.	.	.	.	X	634;436;605;357	.	ENSP00000291074:Q605X	Q	-	1	0	VPS53	387133	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.476000	0.97823	2.786000	0.95864	0.585000	0.79938	CAG		0.547	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		A	440383	G	A	440383	4	1	234	1	0	0	0	0	0	1	0	0	17212	1357	47	3	633	3	VPS53	17	440383	Nonsense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		440383	80754827	57	16529											
GSDMB	55876	broad.mit.edu	37	chr17	38062400	38062400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgaatatcctccttgccGaggcacttagcgagggagtt	8	10	12	11	3	0	0	0	0	0	0	2	4	2	1	4	2	3	2	4	2	3	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:38062400G>A	ENST00000394179.1	-	7	967	c.837C>T	c.(835-837)ctC>ctT	p.L279L	GSDMB_ENST00000309481.7_Silent_p.L271L|GSDMB_ENST00000394175.2_Silent_p.L262L|GSDMB_ENST00000418519.1_Silent_p.L284L|GSDMB_ENST00000360317.3_Silent_p.L284L|GSDMB_ENST00000520542.1_Silent_p.L275L			Q8TAX9	GSDMB_HUMAN	gasdermin B	279						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCTCCTTGCCGAGGCACTTAG	0.522																																						uc010cwj.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(850-852)ctC>ctT		Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.							172	139	151					17																	38062400		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38062400G>A	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.837C>T	17.37:g.38062400G>A						GSDMB_uc010cwi.3_Silent_p.L31L|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.L262L|GSDMB_uc002hth.3_Silent_p.L271L|GSDMB_uc010wem.2_Silent_p.L275L	p.L284L	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN			7	983	-			279					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.852C>T		.	.	.	.	.	.	.	.	.	.	G	2.627	-0.287337	0.05605	.	.	ENSG00000073605	ENST00000420491	.	.	.	3.74	0.492	0.16872	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21965	-1.0230	4	.	.	.	.	2.1528	0.03804	0.1127:0.1979:0.4855:0.2039	.	.	.	.	L	216	.	.	S	-	2	0	GSDMB	35315926	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.583000	0.05807	0.165000	0.19558	0.609000	0.83330	TCG		0.522	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		A	38062400	G	A	38062400	2	1	234	1	0	0	0	0	0	0	0	1	6817	1045	37	2		2	GSDMB	17	38062400	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	37622017	38062400	43132810	58	16530											
ITGA3	3675	broad.mit.edu	37	chr17	48156217	48156217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggctacaaagcttctttgGggggacagtgatgggtgagt	8	10	16	7	1	1	2	0	2	1	0	1	3	1	3	1	5	2	2	1	5	2	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:48156217G>A	ENST00000320031.8	+	19	2657	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E	ITGA3_ENST00000007722.7_Missense_Mutation_p.G776E	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	776					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCTTCTTTGGGGGGACAGTG	0.582																																						uc010dbm.3																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2326-2328)gGg>gAg		Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.							102	107	105					17																	48156217		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156217G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2327G>A	17.37:g.48156217G>A	ENSP00000315190:p.Gly776Glu					ITGA3_uc010dbl.3_Missense_Mutation_p.G776E	p.G776E	NM_005501	NP_005492	P26006	ITA3_HUMAN			18	2791	+			776					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2327G>A	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.013303|5.013303	0.93346|0.93346	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031|ENST00000506827	T;T|.	0.50001|.	0.76;0.76|.	4.53|4.53	4.53|4.53	0.55603|0.55603	Integrin alpha-2 (1);|.	0.212708|.	0.49916|.	D|.	0.000122|.	T|.	0.73892|.	0.3645|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.57257|.	0.979;0.962|.	P;P|.	0.57846|.	0.642;0.828|.	T|.	0.74200|.	-0.3742|.	10|.	0.38643|.	T|.	0.18|.	.|.	16.5234|16.5234	0.84322|0.84322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	776;776|.	P26006-1;P26006|.	.;ITA3_HUMAN|.	E|X	776;762;776|154	ENSP00000007722:G776E;ENSP00000315190:G776E|.	ENSP00000007722:G776E|.	G|W	+|+	2|3	0|0	ITGA3|ITGA3	45511216|45511216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.479000|6.479000	0.73600|0.73600	2.528000|2.528000	0.85240|0.85240	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.582	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		A	48156217	G	A	48156217	3	1	234	1	0	0	0	0	1	0	0	0	7877	1232	43	3	2401	3	ITGA3	17	48156217	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	10093817	48156217	33038993	59	16531											
ANKRD40	91369	broad.mit.edu	37	chr17	48776813	48776813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggctggaatgctggcGctggtcctgcatacgtccca	9	9	12	11	2	0	0	0	0	0	0	2	1	2	1	2	4	3	4	2	4	4	1	rs148279576		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:48776813G>A	ENST00000285243.6	-	3	994	c.725C>T	c.(724-726)gCg>gTg	p.A242V	Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	242	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GAATGCTGGCGCTGGTCCTGC	0.522																																						uc002iso.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(724-726)gCg>gTg		Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.		G	VAL/ALA	0,4406		0,0,2203	107	114	112		725	3.2	0.3	17	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANKRD40	NM_052855.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	242/369	48776813	1,13005	2203	4300	6503	SO:0001583	missense	91369							g.chr17:48776813G>A	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.725C>T	17.37:g.48776813G>A	ENSP00000285243:p.Ala242Val						p.A242V	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		2	980	-			242			Pro-rich.		Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.725C>T	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	G	2.222	-0.378139	0.05000	0.0	1.16E-4	ENSG00000154945	ENST00000285243	T	0.20332	2.08	5.17	3.17	0.36434	.	0.530450	0.21334	N	0.076246	T	0.06096	0.0158	N	0.01352	-0.895	0.21184	N	0.999763	B	0.02656	0.0	B	0.01281	0.0	T	0.39396	-0.9616	10	0.09590	T	0.72	-1.1816	8.8098	0.34961	0.3545:0.0:0.6455:0.0	.	242	Q6AI12	ANR40_HUMAN	V	242	ENSP00000285243:A242V	ENSP00000285243:A242V	A	-	2	0	ANKRD40	46131812	0.004000	0.15560	0.281000	0.24762	0.853000	0.48598	1.501000	0.35693	0.686000	0.31488	-0.145000	0.13849	GCG		0.522	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		A	48776813	G	A	48776813	3	1	234	1	0	0	0	0	1	0	0	0	669	1087	38	1	393	1	ANKRD40	17	48776813	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	620596	48776813	32418397	60	16532											
COIL	8161	broad.mit.edu	37	chr17	55027963	55027963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggagaactacatctctGattggcccagtctttcactg	8	15	8	10	0	3	2	1	1	2	1	4	3	3	2	1	2	2	0	1	2	2	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:55027963G>T	ENST00000240316.4	-	2	674	c.640C>A	c.(640-642)Cag>Aag	p.Q214K		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	214						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTACATCTCTGATTGGCCCAG	0.403																																						uc002iuu.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(640-642)Cag>Aag		Homo sapiens coilin (COIL), mRNA.							135	129	131					17																	55027963		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027963G>T	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.640C>A	17.37:g.55027963G>T	ENSP00000240316:p.Gln214Lys						p.Q214K	NM_004645	NP_004636	P38432	COIL_HUMAN			1	671	-	Breast(9;6.15e-08)		214					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.640C>A	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	9.286	1.049350	0.19827	.	.	ENSG00000121058	ENST00000240316	T	0.75704	-0.96	5.82	3.66	0.41972	.	1.094130	0.06723	N	0.775322	T	0.59649	0.2209	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.47209	-0.9135	10	0.12103	T	0.63	-0.0035	5.4141	0.16363	0.08:0.1083:0.6081:0.2036	.	214	P38432	COIL_HUMAN	K	214	ENSP00000240316:Q214K	ENSP00000240316:Q214K	Q	-	1	0	COIL	52382962	0.005000	0.15991	0.019000	0.16419	0.076000	0.17211	0.782000	0.26788	1.470000	0.48102	0.557000	0.71058	CAG		0.403	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			T	55027963	G	T	55027963	3	4	234	1	0	0	0	0	1	0	0	0	3665	1299	45	5	1114	5	COIL	17	55027963	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	6251150	55027963	26167247	61	16533											
ABCA9	10350	broad.mit.edu	37	chr17	66981088	66981088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagaagcaccactgaCgggttccccaggatgctcag	10	7	10	14	1	2	2	2	1	0	1	4	3	4	3	4	2	2	3	4	2	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:66981088C>T	ENST00000340001.4	-	34	4528	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	ABCA9_ENST00000453985.2_Silent_p.P1401P|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Intron	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1439	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P1439P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACCACTGACGGGTTCCCCA	0.587																																						uc002jhu.3																			1	Substitution - coding silent(1)	p.P1439P(2)|p.P1439Q(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4315-4317)ccG>ccA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							126	113	117					17																	66981088		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66981088C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4317G>A	17.37:g.66981088C>T						ABCA9_uc010dez.3_Silent_p.P1401P	p.P1439P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			33	4460	-	Breast(10;1.47e-12)		1439			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4317G>A	CCDS11681.1																																																																																				0.587	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		T	66981088	C	T	66981088	2	4	234	1	0	0	0	0	0	0	0	1	39	523	19	1		1	ABCA9	17	66981088	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	11953125	66981088	14214122	62	16534											
SETBP1	26040	broad.mit.edu	37	chr18	42529847	42529847	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccacccacccttaggCttacgagaggccccagaaac	11	5	7	18	1	0	2	0	0	0	2	1	3	1	2	6	2	2	1	6	2	3	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr18:42529847C>G	ENST00000282030.5	+	4	838	c.542C>G	c.(541-543)gCt>gGt	p.A181G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	181						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACCCTTAGGCTTACGAGAGG	0.468									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.e4-1		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							45	42	43					18																	42529847		2203	4300	6503	SO:0001630	splice_region_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42529847C>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.541-1C>G	18.37:g.42529847C>G							p.A181_splice	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	837	+			181					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.541_splice	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343822	0.41498	.	.	ENSG00000152217	ENST00000282030	T	0.69806	-0.43	5.79	4.82	0.62117	.	0.185646	0.47852	D	0.000218	T	0.47801	0.1465	N	0.22421	0.69	0.32845	D	0.505939	B	0.34015	0.435	B	0.35510	0.204	T	0.57820	-0.7745	10	0.49607	T	0.09	.	3.8293	0.08867	0.0:0.6719:0.0:0.3281	.	181	Q9Y6X0	SETBP_HUMAN	G	181	ENSP00000282030:A181G	ENSP00000282030:A181G	A	+	2	0	SETBP1	40783845	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.404000	0.52623	2.751000	0.94390	0.650000	0.86243	GCT		0.468	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	Missense_Mutation	G	42529847	C	G	42529847	5	3	234	1	0	0	0	0	0	0	1	0	14129	811	28	5	745	5	SETBP1	18	42529847	Splice_Site	SNP	C	TCGA-32-2638-01A-01D-1495-08		42529847	35547401	63	16535											
SLC14A1	6563	broad.mit.edu	37	chr18	43310353	43310353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggggtgaaaaccaggtttCgccatgtcaagggagaaggt	12	8	15	6	1	1	2	1	1	0	1	2	3	1	2	2	5	1	1	2	5	5	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr18:43310353C>T	ENST00000321925.4	+	3	300	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.S79L|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.S23L|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.S79L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.S23L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	23					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AACCAGGTTTCGCCATGTCAA	0.507																																						uc010dnk.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(235-237)tCg>tTg		Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.							129	109	116					18																	43310353		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43310353C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.68C>T	18.37:g.43310353C>T	ENSP00000318546:p.Ser23Leu					SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.S23L|SLC14A1_uc002lbf.4_Missense_Mutation_p.S23L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.S79L|SLC14A1_uc002lbk.4_Missense_Mutation_p.S23L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S23L	p.S79L	NM_001128588	NP_056949	Q13336	UT1_HUMAN			3	458	+			23					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.236C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276200	0.23307	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000436407	T;T;T	0.55052	0.73;0.54;0.54	5.84	1.79	0.24919	.	1.289600	0.05356	N	0.532809	T	0.38134	0.1029	L	0.31664	0.95	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.09377	0.004;0.001	T	0.19257	-1.0311	10	0.25106	T	0.35	-15.6914	4.5148	0.11930	0.1517:0.5877:0.0:0.2606	.	79;23	Q13336-2;Q13336	.;UT1_HUMAN	L	23;79;79	ENSP00000318546:S23L;ENSP00000412309:S79L;ENSP00000390637:S79L	ENSP00000318546:S23L	S	+	2	0	SLC14A1	41564351	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.712000	0.25779	0.337000	0.23665	0.655000	0.94253	TCG		0.507	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		T	43310353	C	T	43310353	3	4	234	1	0	0	0	0	1	0	0	0	14396	893	31	2	242	2	SLC14A1	18	43310353	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	780506	43310353	34766895	64	16536											
SF3A2	8175	broad.mit.edu	37	chr19	2248259	2248260	+	Frame_Shift_Ins	INS	-	-	G																															gtccatcctcccccatcagcINSgggggttcacccccaggccc																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:2248259_2248260insG	ENST00000221494.5	+	9	1527_1528	c.1109_1110insG	c.(1108-1113)gcggggfs	p.AG370fs	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	370	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCATCAGCGGGGGTTCACC	0.748																																						uc002lvg.3																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1108-1110)gcgfs		Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.																																				SO:0001589	frameshift_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248259_2248260insG	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1114dupG	19.37:g.2248264_2248264dupG	ENSP00000221494:p.Ala370fs					AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	p.A370fs	NM_007165	NP_009096	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1231_1232	+		Hepatocellular(1079;0.137)	370			Pro-rich.		B2RBU1|D6W605|O75245	Frame_Shift_Ins	INS	ENST00000221494.5	37	c.1109_1110insG	CCDS12084.1																																																																																				0.748	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			G	2248260	-	G	2248259	7	5	234	1	0	1	1	0	0	0	0	0	14147	768	27	0	1139	0	SF3A2	19	2248259	Frame_Shift_Ins	INS	-	TCGA-32-2638-01A-01D-1495-08		2248259	56880724	65	16537											
LRRC8E	80131	broad.mit.edu	37	chr19	7965735	7965735	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaaggcggggctcctGgtggaagacacgctttacca	10	7	13	11	2	1	2	1	0	0	2	2	3	2	3	2	5	1	2	2	5	4	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:7965735G>T	ENST00000306708.6	+	3	2429	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L	RN7SL115P_ENST00000392196.5_RNA|MAP2K7_ENST00000397981.3_5'Flank|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	776					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGGGGCTCCTGGTGGAAGACA	0.597																																						uc002mir.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(2326-2328)ctG>ctT		Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.							32	38	36					19																	7965735		2202	4294	6496	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7965735G>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2328G>T	19.37:g.7965735G>T							p.L776L	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			2	2429	+			776					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.2328G>T	CCDS12189.1																																																																																				0.597	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7965735	G	T	7965735	2	4	234	1	0	0	0	0	0	0	0	1	9025	1335	47	5		5	LRRC8E	19	7965735	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	5717476	7965735	51163248	66	16538											
MUC16	94025	broad.mit.edu	37	chr19	9072143	9072143	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggccagtatcttatcTgaggtgctgctgaaatttgg	9	13	13	6	0	2	2	0	2	2	0	2	3	2	2	1	3	2	3	1	3	4	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:9072143T>A	ENST00000397910.4	-	3	15506	c.15303A>T	c.(15301-15303)tcA>tcT	p.S5101S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5103	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATCTTATCTGAGGTGCTGC	0.423																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15301-15303)tcA>tcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							162	147	151					19																	9072143		1901	4134	6035	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072143T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15303A>T	19.37:g.9072143T>A							p.S5101S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	15507	-			5103			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15303A>T	CCDS54212.1																																																																																				0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9072143	T	A	9072143	2	1	234	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9072143	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	1106408	9072143	50056840	67	16539											
CRKL	1399	broad.mit.edu	37	chr22	21272527	21272527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaccctcatcgagcctgCgcccaggtacgcgagagccc	8	4	10	19	4	1	1	1	0	0	1	2	3	1	1	5	1	4	1	5	1	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:21272527C>T	ENST00000354336.3	+	1	814	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ATCGAGCCTGCGCCCAGGTAC	0.607																																					Pancreas(85;3 1441 23889 42519 42763)	uc002ztf.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(304-306)gCg>gTg		Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.							29	29	29					22																	21272527		2203	4300	6503	SO:0001583	missense	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21272527C>T		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"SH2 domain containing"	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.305C>T	22.37:g.21272527C>T	ENSP00000346300:p.Ala102Val						p.A102V	NM_005207	NP_005198	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		0	814	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	102			SH2.		A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	c.305C>T	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222308	0.39300	.	.	ENSG00000099942	ENST00000354336	T	0.21031	2.03	5.37	5.37	0.77165	Src homology-3 domain (1);SH2 motif (2);	0.047237	0.85682	N	0.000000	T	0.09468	0.0233	N	0.01140	-0.99	0.80722	D	1	D	0.63046	0.992	P	0.45474	0.482	T	0.39840	-0.9594	10	0.11485	T	0.65	.	16.9579	0.86264	0.0:1.0:0.0:0.0	.	102	P46109	CRKL_HUMAN	V	102	ENSP00000346300:A102V	ENSP00000346300:A102V	A	+	2	0	CRKL	19602527	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.779000	0.55379	2.674000	0.91012	0.650000	0.86243	GCG		0.607	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		T	21272527	C	T	21272527	3	4	234	1	0	0	0	0	1	0	0	0	3885	768	27	1	307	1	CRKL	22	21272527	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		21272527	30032039	68	16540											
MTMR3	8897	broad.mit.edu	37	chr22	30413988	30413988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgccctgcccatccccaAccacccctgtggacgacagc	8	5	7	21	1	0	0	0	0	0	0	1	2	1	1	8	1	4	0	8	1	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:30413988A>G	ENST00000401950.2	+	16	2089	c.1747A>G	c.(1747-1749)Acc>Gcc	p.T583A	CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.T583A|MTMR3_ENST00000323630.5_Missense_Mutation_p.T447A|MTMR3_ENST00000406629.1_Missense_Mutation_p.T583A|MTMR3_ENST00000351488.3_Missense_Mutation_p.T583A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	583					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCATCCCCAACCACCCCTGT	0.632																																						uc003agv.4																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1747-1749)Acc>Gcc		Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.							168	123	138					22																	30413988		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30413988A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1747A>G	22.37:g.30413988A>G	ENSP00000384651:p.Thr583Ala					MTMR3_uc003agu.4_Missense_Mutation_p.T583A|MTMR3_uc003agw.4_Missense_Mutation_p.T583A	p.T583A	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		15	2075	+			583					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1747A>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793730	0.31685	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92595	-2.87;-2.85;-3.07;-2.9;-2.85	5.93	3.79	0.43588	.	0.287412	0.40064	N	0.001197	D	0.85483	0.5707	L	0.28344	0.845	0.36601	D	0.874672	B;B;B	0.17852	0.024;0.001;0.024	B;B;B	0.16289	0.015;0.001;0.015	T	0.80070	-0.1536	10	0.40728	T	0.16	.	10.6642	0.45719	0.2651:0.0:0.0:0.7349	.	583;583;583	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	A	583;583;447;583;583	ENSP00000384651:T583A;ENSP00000331649:T583A;ENSP00000318070:T447A;ENSP00000307271:T583A;ENSP00000384077:T583A	ENSP00000318070:T447A	T	+	1	0	MTMR3	28743988	1.000000	0.71417	0.667000	0.29798	0.970000	0.65996	3.937000	0.56575	0.472000	0.27344	-0.649000	0.03915	ACC		0.632	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		G	30413988	A	G	30413988	3	3	234	1	0	0	0	0	1	0	0	0	9945	43	2	4	1801	4	MTMR3	22	30413988	Missense_Mutation	SNP	A	TCGA-32-2638-01A-01D-1495-08	9141461	30413988	20890578	69	16541											
SLC5A4	6527	broad.mit.edu	37	chr22	32626981	32626981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagttccagcaccatcGtggggtatgcgtagttggtg	7	11	14	9	2	1	0	1	0	0	0	3	0	2	0	2	3	2	6	2	3	2	4	rs150200210	byFrequency	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:32626981G>A	ENST00000266086.4	-	10	1114	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	368					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCACCATCGTGGGGTATGC	0.537																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1102-1104)aCg>aTg		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.		G	MET/THR	0,4406		0,0,2203	113	85	95		1103	0	0	22	dbSNP_134	95	1,8599		0,1,4299	yes	missense	SLC5A4	NM_014227.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	368/660	32626981	1,13005	2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32626981G>A	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1103C>T	22.37:g.32626981G>A	ENSP00000266086:p.Thr368Met						p.T368M	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			9	1105	-			368					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1103C>T	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	6.813	0.519064	0.13005	0.0	1.16E-4	ENSG00000100191	ENST00000266086	D	0.88818	-2.43	4.86	-0.0133	0.13985	.	0.486097	0.25011	N	0.033833	T	0.82135	0.4971	L	0.55481	1.735	0.09310	N	1	B	0.12013	0.005	B	0.20184	0.028	T	0.71507	-0.4572	10	0.59425	D	0.04	.	2.9873	0.05972	0.4833:0.0:0.2191:0.2976	.	368	Q9NY91	SC5A4_HUMAN	M	368	ENSP00000266086:T368M	ENSP00000266086:T368M	T	-	2	0	SLC5A4	30956981	0.034000	0.19679	0.018000	0.16275	0.158000	0.22134	0.342000	0.19926	0.219000	0.20840	0.650000	0.86243	ACG		0.537	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		A	32626981	G	A	32626981	3	1	234	1	0	0	0	0	1	0	0	0	14667	1145	40	1	900	1	SLC5A4	22	32626981	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	2212993	32626981	18677585	70	16542											
MKL1	57591	broad.mit.edu	37	chr22	40814904	40814904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctagctccgcccgccccCcagggctcaggcaacaggac	7	4	10	20	2	2	0	1	0	1	0	3	1	3	1	6	3	2	3	6	3	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:40814904C>T	ENST00000355630.3	-	12	2128	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	MKL1_ENST00000396617.3_Missense_Mutation_p.G513E|MKL1_ENST00000402042.1_Missense_Mutation_p.G463E|MKL1_ENST00000407029.1_Missense_Mutation_p.G513E	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	513					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGCCCGCCCCCCAGGGCTCAG	0.672			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1537-1539)gGg>gAg		Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.							25	31	29					22																	40814904		2198	4294	6492	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814904C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1538G>A	22.37:g.40814904C>T	ENSP00000347847:p.Gly513Glu					MKL1_uc010gyf.1_Missense_Mutation_p.G463E|MKL1_uc003ayw.1_Missense_Mutation_p.G513E|MKL1_uc010gye.1_Missense_Mutation_p.G513E	p.G513E	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			8	1745	-			513					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1538G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108320	0.20714	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.44482	0.94;0.92;0.94;0.94	4.78	3.76	0.43208	.	0.588613	0.17030	N	0.189776	T	0.29556	0.0737	L	0.58101	1.795	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.12837	0.008;0.005;0.003	T	0.39522	-0.9610	10	0.02654	T	1	-20.307	3.7351	0.08507	0.1785:0.5814:0.1506:0.0895	.	463;513;513	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	E	513;513;463;513	ENSP00000347847:G513E;ENSP00000379861:G513E;ENSP00000385584:G463E;ENSP00000385835:G513E	ENSP00000347847:G513E	G	-	2	0	MKL1	39144850	0.013000	0.17824	0.540000	0.28089	0.983000	0.72400	1.350000	0.34010	1.236000	0.43740	0.591000	0.81541	GGG		0.672	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		T	40814904	C	T	40814904	3	4	234	1	0	0	0	0	1	0	0	0	9601	623	22	3	1273	3	MKL1	22	40814904	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	8187923	40814904	10489662	71	16543											
TEF	7008	broad.mit.edu	37	chr22	41790269	41790269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaggaggacctgaagccCcagcctatgatcaaaaaggc	13	5	12	11	0	1	3	1	3	0	0	1	5	1	5	4	3	2	1	4	3	4	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:41790269C>A	ENST00000266304.4	+	3	761	c.645C>A	c.(643-645)ccC>ccA	p.P215P	TEF_ENST00000406644.3_Silent_p.P185P	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	215	Pro-rich (proline/acidic region (PAR)).				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGAAGCCCCAGCCTATGA	0.547																																						uc011apa.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(658-660)ccC>ccA		Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.							51	48	49					22																	41790269		2203	4300	6503	SO:0001819	synonymous_variant	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41790269C>A		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"basic leucine zipper proteins"	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.645C>A	22.37:g.41790269C>A						TEF_uc003azx.3_Silent_p.P185P|TEF_uc021wqe.1_Silent_p.P109P|TEF_uc003azy.3_Silent_p.P215P	p.P220P	NM_001145398	NP_001138870	Q10587	TEF_HUMAN			2	746	+			215					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	37	c.660C>A	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	9.691	1.151825	0.21371	.	.	ENSG00000167074	ENST00000413942	.	.	.	6.08	-0.258	0.12975	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48703	-0.9012	6	0.87932	D	0	-29.3794	1.3657	0.02200	0.1757:0.263:0.3401:0.2212	.	.	.	.	H	181	.	ENSP00000411170:P181H	P	+	2	0	TEF	40120215	0.135000	0.22499	1.000000	0.80357	0.994000	0.84299	-0.463000	0.06696	0.425000	0.26087	-0.175000	0.13238	CCC		0.547	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		A	41790269	C	A	41790269	2	1	234	1	0	0	0	0	0	0	0	1	15747	610	22	5		5	TEF	22	41790269	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	975365	41790269	9514297	72	16544											
OTUD6A	139562	broad.mit.edu	37	chrX	69283226	69283226	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcgccgccgggggcgtgctCccgcgtctcctgtaggcccc	1	6	16	18	6	1	0	0	0	1	0	3	0	2	0	6	4	1	2	6	4	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chrX:69283226C>G	ENST00000338352.2	+	1	886	c.852C>G	c.(850-852)ctC>ctG	p.L284L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	284					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGGGCGTGCTCCCGCGTCTCC	0.637																																						uc004dxu.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(850-852)ctC>ctG		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							13	10	11					X																	69283226		2135	4177	6312	SO:0001819	synonymous_variant	139562							g.chrX:69283226C>G	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.852C>G	X.37:g.69283226C>G							p.L284L	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			0	886	+			284					B2RPB7	Silent	SNP	ENST00000338352.2	37	c.852C>G	CCDS14395.1																																																																																				0.637	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		G	69283226	C	G	69283226	2	3	234	1	0	0	0	0	0	0	0	1	11316	842	30	5		5	OTUD6A	23	69283226	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08		69283226	85987334	73	16545											
GLUD2	2747	broad.mit.edu	37	chrX	120181603	120181603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctgccctgggctccgCggccaaccactcggccgcgt	3	5	13	20	6	0	0	0	0	0	0	2	0	1	0	6	3	2	2	6	3	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chrX:120181603C>T	ENST00000328078.1	+	1	142	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	22					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CTGGGCTCCGCGGCCAACCAC	0.786																																						uc004eto.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(64-66)gCg>gTg		Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						10	12	11					X																	120181603		1543	2953	4496	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181603C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.65C>T	X.37:g.120181603C>T	ENSP00000327589:p.Ala22Val						p.A22V	NM_012084	NP_036216	P49448	DHE4_HUMAN			0	142	+			22					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.65C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510395	0.44660	.	.	ENSG00000182890	ENST00000328078	D	0.96619	-4.07	1.18	1.18	0.20946	.	.	.	.	.	D	0.91164	0.7217	N	0.08118	0	0.27689	N	0.946164	D	0.67145	0.996	P	0.54372	0.75	D	0.85316	0.1081	9	0.13470	T	0.59	.	5.4646	0.16635	0.0:1.0:0.0:0.0	.	22	P49448	DHE4_HUMAN	V	22	ENSP00000327589:A22V	ENSP00000327589:A22V	A	+	2	0	GLUD2	120009284	.	.	0.002000	0.10522	0.007000	0.05969	.	.	0.908000	0.36671	0.372000	0.22366	GCG		0.786	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		T	120181603	C	T	120181603	3	4	234	1	0	0	0	0	1	0	0	0	6477	768	27	1	67	1	GLUD2	23	120181603	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	50898377	120181603	35088957	74	16546											
MFN2	9927	broad.mit.edu	37	chr1	12052619	12052619	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccacctccagacacgtaCaggaatgcagaactggaccc	12	5	8	16	1	0	2	0	0	0	2	2	4	2	4	5	2	3	2	5	2	3	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:12052619C>G	ENST00000235329.5	+	4	505	c.183C>G	c.(181-183)taC>taG	p.Y61*	MFN2_ENST00000444836.1_Nonsense_Mutation_p.Y61*|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	61					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGACACGTACAGGAATGCAG	0.562																																						uc001atn.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(181-183)taC>taG		Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							167	148	154					1																	12052619		2203	4300	6503	SO:0001587	stop_gained	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052619C>G	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.183C>G	1.37:g.12052619C>G	ENSP00000235329:p.Tyr61*					MFN2_uc009vni.3_Nonsense_Mutation_p.Y61*	p.Y61*	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	636	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	61					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Nonsense_Mutation	SNP	ENST00000235329.5	37	c.183C>G	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536832	0.85812	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	.	.	.	5.54	3.33	0.38152	.	0.374452	0.30723	N	0.009006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9356	12.5	0.55950	0.0:0.8393:0.0:0.1607	.	.	.	.	X	61	.	ENSP00000235329:Y61X	Y	+	3	2	MFN2	11975206	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.994000	0.40757	1.332000	0.45431	-0.291000	0.09656	TAC		0.562	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		G	12052619	C	G	12052619	4	3	235	1	0	0	0	0	0	1	0	0	9524	489	17	5	189	5	MFN2	1	12052619	Nonsense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		12052619	237198002	1	16547											
JAK1	3716	broad.mit.edu	37	chr1	65313353	65313353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcctctcccaaggtgCtcgccctgagggaagaagca	8	7	12	14	2	1	2	0	1	1	1	4	3	1	3	3	2	3	2	3	2	3	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:65313353C>A	ENST00000342505.4	-	13	2009	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	587	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCCCAAGGTGCTCGCCCTGAG	0.507			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1759-1761)gaG>gaT		Homo sapiens Janus kinase 1 (JAK1), mRNA.							115	116	116					1																	65313353		1989	4142	6131	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65313353C>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1761G>T	1.37:g.65313353C>A	ENSP00000343204:p.Glu587Asp					JAK1_uc009wam.1_Missense_Mutation_p.E587D|JAK1_uc009wal.1_5'Flank	p.E587D	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	12	2010	-			587			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.1761G>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919871	0.73098	.	.	ENSG00000162434	ENST00000342505	T	0.35973	1.28	4.81	1.86	0.25419	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.37046	0.0989	M	0.67700	2.07	0.43292	D	0.995273	D	0.76494	0.999	D	0.80764	0.994	T	0.22836	-1.0205	9	0.45353	T	0.12	-8.2836	4.4957	0.11835	0.1498:0.5285:0.0:0.3217	.	587	P23458	JAK1_HUMAN	D	587	ENSP00000343204:E587D	ENSP00000343204:E587D	E	-	3	2	JAK1	65085941	0.257000	0.24022	0.996000	0.52242	0.926000	0.56050	-0.404000	0.07205	0.316000	0.23135	0.655000	0.94253	GAG		0.507	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		A	65313353	C	A	65313353	3	1	235	1	0	0	0	0	1	0	0	0	7937	796	28	5	1755	5	JAK1	1	65313353	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	53260734	65313353	183937268	2	16548											
EPHX4	253152	broad.mit.edu	37	chr1	92515977	92515977	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaataaatgatttcaaGgtaagccaaacaaatcaaac	19	10	4	8	0	3	1	3	1	1	0	4	1	3	1	1	1	3	1	1	1	8	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:92515977G>C	ENST00000370383.4	+	5	806	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	236						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATGATTTCAAGGTAAGCCAAA	0.269																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.e5+1		Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.							62	63	62					1																	92515977		2203	4294	6497	SO:0001630	splice_region_variant	253152					integral to membrane	hydrolase activity	g.chr1:92515977G>C	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.708+1G>C	1.37:g.92515977G>C							p.K236_splice	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			5	812	+			236					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.708_splice	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889719	0.72524	.	.	ENSG00000172031	ENST00000370383	T	0.67865	-0.29	5.55	4.64	0.57946	.	0.044652	0.85682	D	0.000000	T	0.52805	0.1757	L	0.56340	1.77	0.80722	D	1	B	0.33549	0.417	B	0.40982	0.345	T	0.53865	-0.8378	10	0.24483	T	0.36	.	14.4221	0.67190	0.0709:0.0:0.9291:0.0	.	236	Q8IUS5	EPHX4_HUMAN	N	236	ENSP00000359410:K236N	ENSP00000359410:K236N	K	+	3	2	EPHX4	92288565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.419000	0.80179	1.353000	0.45828	0.467000	0.42956	AAG		0.269	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	Missense_Mutation	C	92515977	G	C	92515977	5	2	235	1	0	0	0	0	0	0	1	0	5182	1014	35	5	726	5	EPHX4	1	92515977	Splice_Site	SNP	G	TCGA-32-4208-01A-01D-1353-08	27202624	92515977	156734644	3	16549											
EXTL2	2135	broad.mit.edu	37	chr1	101339636	101339636	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcgtgctcagctcgAtgccacattccagaatagcc	10	8	10	13	2	1	2	1	0	0	2	3	3	2	2	3	0	6	3	3	0	2	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:101339636A>G	ENST00000370114.3	-	5	2291	c.855T>C	c.(853-855)caT>caC	p.H285H	EXTL2_ENST00000535414.1_Silent_p.H272H|EXTL2_ENST00000370113.3_Silent_p.H285H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	285	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTCAGCTCGATGCCACATTC	0.398																																						uc001dtk.1																			0		p.W284*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(853-855)caT>caC		Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.							89	82	84					1																	101339636		2203	4299	6502	SO:0001819	synonymous_variant	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339636A>G	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"Exostosin glycosyltransferase family"	3516	protein-coding gene	gene with protein product	"alpha-1,4-N-acteylhexosaminyltransferase"	602411	"exostoses (multiple)-like 2"			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.855T>C	1.37:g.101339636A>G						EXTL2_uc001dtl.1_Silent_p.H285H|EXTL2_uc010ouk.1_Silent_p.H272H|EXTL2_uc001dtm.1_Silent_p.H284H	p.H285H	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	4	1192	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	285					B2R795|D3DT60	Silent	SNP	ENST00000370114.3	37	c.855T>C	CCDS775.1																																																																																				0.398	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		G	101339636	A	G	101339636	2	3	235	1	0	0	0	0	0	0	0	1	5326	330	12	4		4	EXTL2	1	101339636	Silent	SNP	A	TCGA-32-4208-01A-01D-1353-08	8823659	101339636	147910985	4	16550											
NUP210L	91181	broad.mit.edu	37	chr1	154125256	154125256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggcgtatcggttgcGtagattcagcaatgagtaca	10	11	13	7	3	1	3	1	2	0	1	2	3	1	3	0	2	4	6	0	2	4	5	rs150389273		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:154125256G>C	ENST00000368559.3	-	2	367	c.296C>G	c.(295-297)aCg>aGg	p.T99R	NUP210L_ENST00000271854.3_Missense_Mutation_p.T99R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	99					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423																																						uc001fdw.3																			0		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(295-297)aCg>aGg		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							129	122	124					1																	154125256		1920	4130	6050	SO:0001583	missense	91181					integral to membrane		g.chr1:154125256G>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.296C>G	1.37:g.154125256G>C	ENSP00000357547:p.Thr99Arg					NUP210L_uc010peh.2_Missense_Mutation_p.T99R	p.T99R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		1	368	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		99					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.296C>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347949	0.61183	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.07444	3.44;3.19	5.23	5.23	0.72850	.	0.187113	0.37577	N	0.002039	T	0.09423	0.0232	L	0.38838	1.175	0.32741	N	0.507669	D;P	0.52996	0.957;0.8	P;B	0.57009	0.811;0.322	T	0.02059	-1.1221	10	0.45353	T	0.12	-5.8685	15.88	0.79197	0.0:0.0:1.0:0.0	.	99;99	E7EP56;Q5VU65	.;P210L_HUMAN	R	99	ENSP00000357547:T99R;ENSP00000271854:T99R	ENSP00000271854:T99R	T	-	2	0	NUP210L	152391880	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.929000	0.48916	2.723000	0.93209	0.650000	0.86243	ACG		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		C	154125256	G	C	154125256	3	2	235	1	0	0	0	0	1	0	0	0	10761	1145	40	5	5526	5	NUP210L	1	154125256	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	52785620	154125256	95125365	5	16551											
HMCN1	83872	broad.mit.edu	37	chr1	185878606	185878606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcactgtgtctttgagtggGccttctccaatgattgaaat	8	15	10	8	0	3	3	1	3	2	0	4	3	3	3	2	1	0	0	2	1	2	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:185878606G>A	ENST00000271588.4	+	5	988	c.759G>A	c.(757-759)ggG>ggA	p.G253G	HMCN1_ENST00000367492.2_Silent_p.G253G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	253					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTGAGTGGGCCTTCTCCAA	0.363																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(757-759)ggG>ggA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							112	104	107					1																	185878606		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185878606G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.759G>A	1.37:g.185878606G>A							p.G253G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			4	988	+			253					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.759G>A	CCDS30956.1																																																																																				0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185878606	G	A	185878606	2	1	235	1	0	0	0	0	0	0	0	1	7220	1190	42	3		3	HMCN1	1	185878606	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	31753350	185878606	63372015	6	16552											
CACNA1S	779	broad.mit.edu	37	chr1	201029914	201029914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagcacctcagtgggcGggccttcagggcatactgta	9	9	13	10	1	2	0	2	0	0	0	2	0	2	0	2	3	2	4	2	3	4	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:201029914G>T	ENST00000362061.3	-	26	3512	c.3286C>A	c.(3286-3288)Cgc>Agc	p.R1096S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1096S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1096					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCAGTGGGCGGGCCTTCAGG	0.532																																						uc001gvv.3																			0		p.R1096H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3286-3288)Cgc>Agc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						255	249	251					1																	201029914		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029914G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3286C>A	1.37:g.201029914G>T	ENSP00000355192:p.Arg1096Ser						p.R1096S	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			25	3513	-			1096					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3286C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211039	0.58343	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96168	-3.93;-3.85	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97791	0.9275	M	0.86740	2.835	0.51012	D	0.999905	D	0.63880	0.993	D	0.63192	0.912	D	0.98574	1.0647	10	0.87932	D	0	.	18.6069	0.91270	0.0:0.0:1.0:0.0	.	1096	Q13698	CAC1S_HUMAN	S	1096	ENSP00000355192:R1096S;ENSP00000356307:R1096S	ENSP00000355192:R1096S	R	-	1	0	CACNA1S	199296537	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	9.817000	0.99352	2.545000	0.85829	0.655000	0.94253	CGC		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201029914	G	T	201029914	3	4	235	1	0	0	0	0	1	0	0	0	2547	1116	39	5	2411	5	CACNA1S	1	201029914	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	15151308	201029914	48220707	7	16553											
EPRS	2058	broad.mit.edu	37	chr1	220146600	220146600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttgtgaaaagggtgacctgGatgtcttccaaaatagcttg	11	12	11	7	0	1	2	0	2	1	0	2	3	2	3	2	2	1	1	2	2	5	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:220146600G>C	ENST00000366923.3	-	29	4493	c.4224C>G	c.(4222-4224)atC>atG	p.I1408M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1408	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGGTGACCTGGATGTCTTCCA	0.423																																						uc001hly.1																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(4222-4224)atC>atG		Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						175	166	169					1																	220146600		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220146600G>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4224C>G	1.37:g.220146600G>C	ENSP00000355890:p.Ile1408Met					RNU5F-1_uc021pjd.1_Intron	p.I1408M	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	28	4494	-			1408			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.4224C>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968450	0.74131	.	.	ENSG00000136628	ENST00000366923	T	0.46451	0.87	5.91	5.0	0.66597	Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.73962	2.25	0.58432	D	0.999997	D	0.61080	0.989	P	0.58721	0.844	T	0.62277	-0.6888	10	0.62326	D	0.03	-16.2568	11.1657	0.48541	0.1395:0.0:0.8605:0.0	.	1408	P07814	SYEP_HUMAN	M	1408	ENSP00000355890:I1408M	ENSP00000355890:I1408M	I	-	3	3	EPRS	218213223	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.403000	0.66338	1.507000	0.48752	0.655000	0.94253	ATC		0.423	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		C	220146600	G	C	220146600	3	2	235	1	0	0	0	0	1	0	0	0	5191	1164	41	5	330	5	EPRS	1	220146600	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	19116686	220146600	29104021	8	16554											
IFT172	26160	broad.mit.edu	37	chr2	27688614	27688614	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattggccagcctctcaccGgatgtagttgccatcatcaa	9	12	8	12	1	3	0	3	0	1	0	4	1	3	1	4	2	2	2	4	2	3	4	rs376749789		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:27688614G>A	ENST00000260570.3	-	17	1931	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	610					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCTCTCACCGGATGTAGTTG	0.537																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.e17+1		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.		G	TRP/ARG	0,4406		0,0,2203	370	355	360		1828	4.8	1	2		360	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	IFT172	NM_015662.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	610/1750	27688614	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27688614G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1829+1C>T	2.37:g.27688614G>A							p.R610_splice	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			17	1880	-	Acute lymphoblastic leukemia(172;0.155)		610					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1829_splice	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061731	0.76187	0.0	1.16E-4	ENSG00000138002	ENST00000260570	T	0.64991	-0.13	5.65	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83764	0.0216	10	0.87932	D	0	-15.1502	12.3088	0.54918	0.0:0.0:0.587:0.413	.	610	Q9UG01	IF172_HUMAN	W	610	ENSP00000260570:R610W	ENSP00000260570:R610W	R	-	1	2	IFT172	27542118	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.315000	0.51951	1.391000	0.46566	0.655000	0.94253	CGG		0.537	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Missense_Mutation	A	27688614	G	A	27688614	5	1	235	1	0	0	0	0	0	0	1	0	7557	1130	39	2	3549	2	IFT172	2	27688614	Splice_Site	SNP	G	TCGA-32-4208-01A-01D-1353-08		27688614	215510759	9	16555											
GCC2	9648	broad.mit.edu	37	chr2	109103075	109103075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccagcagagagtgacaGcactacaggaagagtgccgt	14	5	12	10	1	0	3	0	1	0	2	0	5	0	4	2	1	5	2	2	1	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:109103075G>A	ENST00000309863.6	+	16	4615	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1301					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAGTGACAGCACTACAGGA	0.512																																						uc002tec.3																			0		p.A1301V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3901-3903)Gca>Aca		Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.							91	80	84					2																	109103075		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103075G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3901G>A	2.37:g.109103075G>A	ENSP00000307939:p.Ala1301Thr					GCC2_uc002ted.3_Missense_Mutation_p.A1200T	p.A1301T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			15	4055	+			1301					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3901G>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	2.653	-0.281549	0.05642	.	.	ENSG00000135968	ENST00000309863	T	0.30448	1.53	5.6	1.79	0.24919	.	0.292068	0.36665	N	0.002461	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.21708	0.036	T	0.23547	-1.0185	10	0.12103	T	0.63	.	8.5834	0.33644	0.4314:0.0:0.5686:0.0	.	1301	Q8IWJ2	GCC2_HUMAN	T	1301	ENSP00000307939:A1301T	ENSP00000307939:A1301T	A	+	1	0	GCC2	108469507	0.074000	0.21230	0.002000	0.10522	0.092000	0.18411	1.792000	0.38754	0.734000	0.32515	-0.140000	0.14226	GCA		0.512	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		A	109103075	G	A	109103075	3	1	235	1	0	0	0	0	1	0	0	0	6286	971	34	3	3963	3	GCC2	2	109103075	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	81414461	109103075	134096298	10	16556											
LRP2	4036	broad.mit.edu	37	chr2	170026272	170026272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgcatttcagttcacTgtgtacacaatgtccacttg	9	14	6	12	1	2	0	2	0	0	0	5	0	4	0	2	0	1	3	2	0	2	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:170026272T>C	ENST00000263816.3	-	60	11722	c.11437A>G	c.(11437-11439)Agt>Ggt	p.S3813G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3813	LDL-receptor class A 33. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTCAGTTCACTGTGTACACAA	0.438																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11437-11439)Agt>Ggt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						194	153	167					2																	170026272		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170026272T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11437A>G	2.37:g.170026272T>C	ENSP00000263816:p.Ser3813Gly						p.S3813G	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	59	11650	-			3813			LDL-receptor class A 33.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11437A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286795	0.40494	.	.	ENSG00000081479	ENST00000263816	D	0.95554	-3.74	6.17	3.13	0.36017	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.761286	0.13536	N	0.380609	D	0.88171	0.6365	N	0.13198	0.31	0.80722	D	1	B	0.25351	0.124	B	0.24701	0.055	T	0.79322	-0.1851	10	0.37606	T	0.19	.	4.117	0.10086	0.0:0.553:0.1992:0.2479	.	3813	P98164	LRP2_HUMAN	G	3813	ENSP00000263816:S3813G	ENSP00000263816:S3813G	S	-	1	0	LRP2	169734518	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.950000	0.56676	0.332000	0.23536	-0.316000	0.08728	AGT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170026272	T	C	170026272	3	2	235	1	0	0	0	0	1	0	0	0	8956	1580	55	4	2610	4	LRP2	2	170026272	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	60923197	170026272	73173101	11	16557											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			T	209113112	C	T	209113112	3	4	235	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	39086840	209113112	34086261	12	16558											
RHBDD1	84236	broad.mit.edu	37	chr2	227729644	227729644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaccatgctgatgatTggcatttgtatttcaatatg	9	16	7	9	0	2	2	2	2	0	0	2	2	2	2	2	1	1	3	2	1	3	6			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:227729644T>C	ENST00000341329.3	+	2	477	c.235T>C	c.(235-237)Tgg>Cgg	p.W79R	RHBDD1_ENST00000392062.2_Missense_Mutation_p.W79R	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	79					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGCTGATGATTGGCATTTGTA	0.438																																						uc021vxo.1																			0				breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(235-237)Tgg>Cgg		Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.							175	163	167					2																	227729644		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729644T>C	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.235T>C	2.37:g.227729644T>C	ENSP00000344779:p.Trp79Arg					RHBDD1_uc002voi.3_Missense_Mutation_p.W79R|RHBDD1_uc010fxc.3_Missense_Mutation_p.W79R	p.W79R	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	3	759	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	79					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.235T>C	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834864	0.50951	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.242548	0.43579	D	0.000547	T	0.41834	0.1176	M	0.84433	2.695	0.39990	D	0.975023	D;D	0.69078	0.997;0.996	D;D	0.71414	0.973;0.964	T	0.36261	-0.9755	10	0.34782	T	0.22	-14.2848	16.5885	0.84745	0.0:0.0:0.0:1.0	.	79;79	C9K011;Q8TEB9	.;RHBD1_HUMAN	R	79	ENSP00000400765:W79R;ENSP00000344779:W79R;ENSP00000375914:W79R;ENSP00000399694:W79R;ENSP00000388847:W79R	ENSP00000344779:W79R	W	+	1	0	RHBDD1	227437888	1.000000	0.71417	0.945000	0.38365	0.498000	0.33706	3.880000	0.56145	2.317000	0.78254	0.460000	0.39030	TGG		0.438	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			C	227729644	T	C	227729644	3	2	235	1	0	0	0	0	1	0	0	0	13316	1812	63	4	237	4	RHBDD1	2	227729644	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	18616532	227729644	15469729	13	16559											
BOK	666	broad.mit.edu	37	chr2	242509549	242509549	+	Frame_Shift_Del	DEL	G	G	-																															tctccctgcaggcatcacgtGgggcaaggtggtgtccctgt																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:242509549delG	ENST00000318407.3	+	4	661	c.359delG	c.(358-360)tggfs	p.W120fs		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	120					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCATCACGTGGGGCAAGGTG	0.657																																						uc002wbq.3																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(358-360)tggfs		Homo sapiens BCL2-related ovarian killer (BOK), mRNA.							73	66	68					2																	242509549		2199	4298	6497	SO:0001589	frameshift_variant	666				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		g.chr2:242509549delG	AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.359delG	2.37:g.242509549delG	ENSP00000314132:p.Trp120fs					BOK_uc002wbr.3_5'Flank	p.W120fs	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	3	651	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	120						Frame_Shift_Del	DEL	ENST00000318407.3	37	c.359delG	CCDS2550.1																																																																																				0.657	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257268.2	NM_032515		-	242509549	G	-	242509549	7	5	235	1	0	1	0	1	0	0	0	0	1484	1357	47	0	369	0	BOK	2	242509549	Frame_Shift_Del	DEL	G	TCGA-32-4208-01A-01D-1353-08	14779905	242509549	689824	14	16560											
TATDN2	9797	broad.mit.edu	37	chr3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-																															ttctagctacccctccacagGcagcagcagcaacgatgcag																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:10312062_10312064delGCA	ENST00000287652.4	+	4	2247_2249	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_In_Frame_Del_p.S402del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	402					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552																																						uc011atr.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1195-1200)ggcagc>ggc		Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312062_10312064delGCA	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1196_1198delGCA	3.37:g.10312071_10312073delGCA	ENSP00000287652:p.Ser402del					TATDN2_uc003bvg.2_In_Frame_Del_p.S402del|TATDN2_uc003bvf.3_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	p.S402del	NM_014760	NP_055575	Q93075	TATD2_HUMAN			3	1777_1779	+			402					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.1196_1198delGCA	CCDS33698.1																																																																																				0.552	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		-	10312064	GCA	-	10312062	7	5	235	1	0	1	0	1	0	0	0	0	15589	1203	42	0	1206	0	TATDN2	3	10312062	In_Frame_Del	DEL	GCA	TCGA-32-4208-01A-01D-1353-08		10312062	187710368	15	16561											
DOCK3	1795	broad.mit.edu	37	chr3	51387773	51387773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcaacgcctggagcctGagttctttcgggtcggcttc	6	10	13	12	3	1	1	0	1	1	0	4	2	1	2	2	3	4	4	2	3	1	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:51387773G>C	ENST00000266037.9	+	40	4080	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1353	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGGAGCCTGAGTTCTTTCG	0.448																																						uc011bds.2																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4057-4059)Gag>Cag		Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.							180	180	180					3																	51387773		1925	4136	6061	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51387773G>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4057G>C	3.37:g.51387773G>C	ENSP00000266037:p.Glu1353Gln						p.E1353Q	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	39	4080	+			1353			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4057G>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153484	0.94645	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.06371	3.31	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00406	-1.1759	10	0.52906	T	0.07	.	18.9724	0.92721	0.0:0.0:1.0:0.0	.	1353	Q8IZD9	DOCK3_HUMAN	Q	1353;149	ENSP00000266037:E1353Q	ENSP00000266037:E1353Q	E	+	1	0	DOCK3	51362813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.782000	0.99034	2.474000	0.83562	0.585000	0.79938	GAG		0.448	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		C	51387773	G	C	51387773	3	2	235	1	0	0	0	0	1	0	0	0	4688	1291	45	5	4215	5	DOCK3	3	51387773	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	41075711	51387773	146634657	16	16562											
TNFSF10	8743	broad.mit.edu	37	chr3	172232698	172232698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacttgccagcaggggcTgttcatactctcttcgtcat	6	14	9	12	1	3	1	2	1	1	0	5	1	3	1	1	2	3	3	1	2	1	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172232698T>C	ENST00000241261.2	-	2	345	c.223A>G	c.(223-225)Agc>Ggc	p.S75G	TNFSF10_ENST00000420541.2_Missense_Mutation_p.S75G	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGCAGGGGCTGTTCATACTC	0.498																																						uc003fid.3																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.(223-225)Agc>Ggc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.							145	138	140					3																	172232698		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172232698T>C	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.223A>G	3.37:g.172232698T>C	ENSP00000241261:p.Ser75Gly					TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S75G	p.S75G	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	346	-	Ovarian(172;0.00197)|Breast(254;0.158)		75					A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.223A>G	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	T	6.432	0.447848	0.12223	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	D;T	0.87256	-2.23;1.41	5.61	2.94	0.34122	.	0.659046	0.17233	N	0.181860	T	0.79058	0.4382	L	0.48642	1.525	0.09310	N	1	B;B	0.24920	0.114;0.085	B;B	0.24394	0.053;0.039	T	0.64123	-0.6481	10	0.29301	T	0.29	-6.6363	3.5609	0.07882	0.1758:0.2794:0.0:0.5448	.	75;75	A1Y9B3;P50591	.;TNF10_HUMAN	G	75	ENSP00000241261:S75G;ENSP00000389931:S75G	ENSP00000241261:S75G	S	-	1	0	TNFSF10	173715392	0.001000	0.12720	0.023000	0.16930	0.161000	0.22273	0.889000	0.28282	0.966000	0.38159	0.533000	0.62120	AGC		0.498	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			C	172232698	T	C	172232698	3	2	235	1	0	0	0	0	1	0	0	0	16298	1580	55	4	638	4	TNFSF10	3	172232698	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	120844925	172232698	25789732	17	16563											
SPATA16	83893	broad.mit.edu	37	chr3	172835032	172835032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagaaagctgaaattatGtacactcaaagggtctacta	16	9	9	7	0	2	2	1	1	1	1	2	2	2	2	0	2	3	3	0	2	7	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172835032G>C	ENST00000351008.3	-	2	673	c.490C>G	c.(490-492)Cat>Gat	p.H164D		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	164					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAAATTATGTACACTCAAA	0.448																																						uc003fin.4																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(490-492)Cat>Gat		Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.							127	123	124					3																	172835032		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835032G>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.490C>G	3.37:g.172835032G>C	ENSP00000341765:p.His164Asp						p.H164D	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		1	674	-	Ovarian(172;0.00319)|Breast(254;0.197)		164					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.490C>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225857	0.22542	.	.	ENSG00000144962	ENST00000351008	T	0.15372	2.43	5.7	5.7	0.88788	.	0.371988	0.23102	N	0.051917	T	0.08802	0.0218	N	0.08118	0	0.20873	N	0.999834	B	0.06786	0.001	B	0.01281	0.0	T	0.16188	-1.0411	10	0.40728	T	0.16	-0.6166	8.4014	0.32588	0.0814:0.1567:0.7619:0.0	.	164	Q9BXB7	SPT16_HUMAN	D	164	ENSP00000341765:H164D	ENSP00000341765:H164D	H	-	1	0	SPATA16	174317726	0.975000	0.34042	0.466000	0.27168	0.692000	0.40212	2.684000	0.46951	2.677000	0.91161	0.650000	0.86243	CAT		0.448	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		C	172835032	G	C	172835032	3	2	235	1	0	0	0	0	1	0	0	0	15000	1377	48	5	1259	5	SPATA16	3	172835032	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	602334	172835032	25187398	18	16564											
GABRA2	2555	broad.mit.edu	37	chr4	46252347	46252347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggactgacccctaatacaGgttctctgtttaaatatgta	13	13	7	8	0	1	1	0	1	1	0	2	2	1	2	2	2	1	3	2	2	7	7			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:46252347G>A	ENST00000510861.1	-	10	1507	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	GABRA2_ENST00000514090.1_Missense_Mutation_p.P445L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P505L|GABRA2_ENST00000381620.4_Missense_Mutation_p.P445L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P445L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P450L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	445					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCTAATACAGGTTCTCTGTT	0.338																																						uc011bzc.1																			0		p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1348-1350)cCt>cTt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						78	83	82					4																	46252347		2202	4294	6496	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252347G>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1334C>T	4.37:g.46252347G>A	ENSP00000421828:p.Pro445Leu					GABRA2_uc003gxc.3_Missense_Mutation_p.P445L|GABRA2_uc010igc.2_Missense_Mutation_p.P445L	p.P450L			P47869	GBRA2_HUMAN			9	1761	-			445					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1349C>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659641	0.67586	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.84442	-1.85;-1.85;-1.85;-1.85;-1.56;-1.46	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.048140	0.85682	D	0.000000	D	0.85349	0.5676	L	0.38531	1.155	0.80722	D	1	D;D	0.59767	0.985;0.986	P;P	0.55455	0.711;0.776	D	0.85359	0.1106	10	0.52906	T	0.07	.	12.4559	0.55704	0.076:0.0:0.924:0.0	.	450;445	B7Z1H8;P47869	.;GBRA2_HUMAN	L	445;445;445;445;450;505	ENSP00000421828:P445L;ENSP00000421300:P445L;ENSP00000371033:P445L;ENSP00000348897:P445L;ENSP00000444409:P450L;ENSP00000427603:P505L	ENSP00000348897:P445L	P	-	2	0	GABRA2	45947104	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.745000	0.74860	2.767000	0.95098	0.655000	0.94253	CCT		0.338	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			A	46252347	G	A	46252347	3	1	235	1	0	0	0	0	1	0	0	0	6161	1000	35	3	25	3	GABRA2	4	46252347	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		46252347	144901929	19	16565											
FAM175A	84142	broad.mit.edu	37	chr4	84388619	84388641	+	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT	-																															taacttacctttaattcctcTtgtaatgaagcatacatttc																								rs568225415		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	ENST00000321945.7	-	7	755_777	c.647_669delATGAAATGTATGCTTCATTACAA	c.(646-669)aatgaaatgtatgcttcattacaafs	p.NEMYASLQ216fs	FAM175A_ENST00000505489.1_5'Flank|FAM175A_ENST00000506553.1_Frame_Shift_Del_p.NEMYASLQ167fs|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	216					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTAATTCCTCTTGTAATGAAGCATACATTTCATTTATCTTATG	0.309																																						uc003hou.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(646-669)aatgaaatgtatgcttcattacaafs		Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.																																				SO:0001589	frameshift_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"Abraxas protein"	611143	"coiled-coil domain containing 98"	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.647_669delATGAAATGTATGCTTCATTACAA	4.37:g.84388619_84388641delTTGTAATGAAGCATACATTTCAT	ENSP00000369857:p.Asn216fs					FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs	p.N216fs	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			6	712_734	-			216					A5JJ07|Q9H8I1|Q9H9N4	Frame_Shift_Del	DEL	ENST00000321945.7	37	c.647_669delATGAAATGTATGCTTCATTACAA	CCDS3605.2																																																																																				0.309	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		-	84388641	TTGTAATGAAGCATACATTTCAT	-	84388619	7	5	235	1	0	1	0	1	0	0	0	0	5497	1606	56	0	572	0	FAM175A	4	84388619	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TCGA-32-4208-01A-01D-1353-08	38136272	84388619	106765657	20	16566											
SEC24B	10427	broad.mit.edu	37	chr4	110442579	110442579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctttgttttctcagcttAtaaaagacttactgaatgca	12	16	6	7	0	2	2	1	1	2	1	3	3	2	2	0	0	3	3	0	0	5	6			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:110442579A>G	ENST00000265175.5	+	14	2360	c.2305A>G	c.(2305-2307)Ata>Gta	p.I769V	SEC24B_ENST00000504968.2_Missense_Mutation_p.I799V|SEC24B_ENST00000399100.2_Missense_Mutation_p.I734V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	769					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTCAGCTTATAAAAGACTT	0.343																																						uc003hzk.3																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2305-2307)Ata>Gta		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.							89	81	84					4																	110442579		1874	4091	5965	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110442579A>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2305A>G	4.37:g.110442579A>G	ENSP00000265175:p.Ile769Val					SEC24B_uc003hzl.3_Missense_Mutation_p.I734V|SEC24B_uc011cfp.2_Missense_Mutation_p.I799V|SEC24B_uc011cfq.2_Missense_Mutation_p.I768V|SEC24B_uc011cfr.2_Missense_Mutation_p.I733V	p.I769V	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	13	2360	+		Hepatocellular(203;0.217)	769					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2305A>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	8.017	0.758732	0.15846	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77358	-1.09;-1.09;-1.09	5.78	5.78	0.91487	Sec23/Sec24, trunk domain (1);	0.047549	0.85682	D	0.000000	T	0.62901	0.2466	N	0.10837	0.055	0.58432	D	0.999997	B;B;B;B;B	0.20261	0.043;0.002;0.043;0.035;0.043	B;B;B;B;B	0.29524	0.103;0.011;0.103;0.062;0.103	T	0.59215	-0.7496	10	0.12430	T	0.62	-27.5837	16.1146	0.81295	1.0:0.0:0.0:0.0	.	683;368;799;734;769	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	799;734;769	ENSP00000428564:I799V;ENSP00000382051:I734V;ENSP00000265175:I769V	ENSP00000265175:I769V	I	+	1	0	SEC24B	110662028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.753000	0.68736	2.200000	0.70718	0.460000	0.39030	ATA		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			G	110442579	A	G	110442579	3	3	235	1	0	0	0	0	1	0	0	0	13995	449	16	4	2359	4	SEC24B	4	110442579	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	26053960	110442579	80711697	21	16567											
MYOZ2	51778	broad.mit.edu	37	chr4	120085521	120085521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagcctgaaggaaaggcaGaactgcctgattacaggagc	14	6	12	9	0	1	3	1	2	0	1	1	5	1	5	2	3	5	1	2	3	5	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:120085521G>C	ENST00000307128.5	+	5	745	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAAAGGCAGAACTGCCTGA	0.418																																						uc003icp.4																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(532-534)Gaa>Caa		Homo sapiens myozenin 2 (MYOZ2), mRNA.							62	62	62					4																	120085521		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120085521G>C	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.532G>C	4.37:g.120085521G>C	ENSP00000306997:p.Glu178Gln						p.E178Q	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			4	745	+			178						Missense_Mutation	SNP	ENST00000307128.5	37	c.532G>C	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897107	0.52121	.	.	ENSG00000172399	ENST00000307128	T	0.65364	-0.15	5.96	5.11	0.69529	.	0.401965	0.31145	N	0.008174	T	0.59609	0.2206	L	0.49350	1.555	0.54753	D	0.999982	B	0.30889	0.299	B	0.32980	0.156	T	0.56498	-0.7969	10	0.31617	T	0.26	-7.5138	17.1665	0.86818	0.0:0.1264:0.8736:0.0	.	178	Q9NPC6	MYOZ2_HUMAN	Q	178	ENSP00000306997:E178Q	ENSP00000306997:E178Q	E	+	1	0	MYOZ2	120304969	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.925000	0.63425	1.504000	0.48704	0.655000	0.94253	GAA		0.418	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			C	120085521	G	C	120085521	3	2	235	1	0	0	0	0	1	0	0	0	10096	943	33	5	546	5	MYOZ2	4	120085521	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	9642942	120085521	71068755	22	16568											
PCDHA4	56144	broad.mit.edu	37	chr5	140189035	140189035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatactcgcagcagaggAggccgagggtgtgctctggt	7	8	17	9	2	2	1	1	0	1	1	3	3	2	2	1	5	3	3	1	5	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:140189035A>G	ENST00000530339.1	+	1	2263	c.2263A>G	c.(2263-2265)Agg>Ggg	p.R755G	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R755G|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R755G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	755	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAGAGGAGGCCGAGGGT	0.662																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2263-2265)Agg>Ggg		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							85	87	86					5																	140189035		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140189035A>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2263A>G	5.37:g.140189035A>G	ENSP00000435300:p.Arg755Gly					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R755G|PCDHAC2_uc011daa.2_Missense_Mutation_p.R755G	p.R755G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2364	+			792					O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2263A>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	9.642	1.139245	0.21205	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.14766	2.48;2.48;2.48	3.83	-1.63	0.08345	.	0.190338	0.23583	N	0.046628	T	0.16981	0.0408	M	0.83012	2.62	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.17433	0.018;0.005;0.003	T	0.25882	-1.0119	10	0.41790	T	0.15	.	9.8084	0.40808	0.3245:0.5872:0.0883:0.0	.	755;755;755	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	G	755	ENSP00000423470:R755G;ENSP00000349344:R755G;ENSP00000435300:R755G	ENSP00000349344:R755G	R	+	1	2	PCDHA4	140169219	0.002000	0.14202	0.981000	0.43875	0.569000	0.35902	0.208000	0.17415	-0.166000	0.10890	0.397000	0.26171	AGG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		G	140189035	A	G	140189035	3	3	235	1	0	0	0	0	1	0	0	0	11526	295	11	4	2265	4	PCDHA4	5	140189035	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		140189035	40726225	23	16569											
CLK4	57396	broad.mit.edu	37	chr5	178040532	178040532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtcaatttgaaatggCagaaagctgttttctttaat	12	16	9	4	0	2	2	1	1	1	1	2	2	2	2	0	2	1	3	0	2	4	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:178040532C>T	ENST00000316308.4	-	7	936	c.768G>A	c.(766-768)ctG>ctA	p.L256L		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTTGAAATGGCAGAAAGCTGT	0.328																																						uc003mjf.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(766-768)ctG>ctA		Homo sapiens CDC-like kinase 4 (CLK4), mRNA.							82	81	82					5																	178040532		2203	4300	6503	SO:0001819	synonymous_variant	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178040532C>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.768G>A	5.37:g.178040532C>T						CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	p.L256L	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	6	876	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	256			Protein kinase.			Silent	SNP	ENST00000316308.4	37	c.768G>A	CCDS4437.1																																																																																				0.328	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			T	178040532	C	T	178040532	2	4	235	1	0	0	0	0	0	0	0	1	3539	697	25	3		3	CLK4	5	178040532	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	37851497	178040532	2874728	24	16570											
KIF13A	63971	broad.mit.edu	37	chr6	17831467	17831467	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttgtcgttgtctttcCtgtgcacaaaaacagacaaa	13	12	7	9	1	2	1	1	0	1	1	4	1	3	1	1	0	2	3	1	0	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:17831467C>A	ENST00000259711.6	-	13	1372		c.e13-1		KIF13A_ENST00000378826.2_Splice_Site|KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Splice_Site|KIF13A_ENST00000378814.5_Splice_Site	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTGTCTTTCCTGTGCACAAA	0.438																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.e13-1		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							97	93	94					6																	17831467		1913	4126	6039	SO:0001630	splice_region_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17831467C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1267-1G>T	6.37:g.17831467C>A						KIF13A_uc003ncf.3_Splice_Site_p.E423_splice|KIF13A_uc003nch.4_Splice_Site_p.E423_splice|KIF13A_uc003nci.4_Splice_Site_p.E423_splice|KIF13A_uc003ncj.3_Splice_Site_p.E99_splice	p.E423_splice	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		13	1427	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	423					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Splice_Site	SNP	ENST00000259711.6	37	c.1267_splice	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816563	0.90790	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5837	0.95482	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13A	17939446	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.752000	0.85141	2.684000	0.91462	0.563000	0.77884	.		0.438	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		Intron	A	17831467	C	A	17831467	5	1	235	1	0	0	0	0	0	0	1	0	8274	695	24	5	4284	5	KIF13A	6	17831467	Splice_Site	SNP	C	TCGA-32-4208-01A-01D-1353-08		17831467	153283600	25	16571											
BTNL2	56244	broad.mit.edu	37	chr6	32370963	32370963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactctccccaggtcccTccatgtggatgctaggggca	6	9	10	16	0	1	0	0	0	1	0	5	1	4	1	5	4	1	2	5	4	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:32370963T>C	ENST00000374993.1	-	3	457	c.458A>G	c.(457-459)gAg>gGg	p.E153G	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.E153G	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	153	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCAGGTCCCTCCATGTGGAT	0.607																																						uc003obg.1																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(457-459)gAg>gGg		Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.							27	26	26					6																	32370963		1508	2707	4215	SO:0001583	missense	56244					integral to membrane		g.chr6:32370963T>C	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.458A>G	6.37:g.32370963T>C	ENSP00000364132:p.Glu153Gly					BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.E153G	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			2	458	-			153			Ig-like V-type 2.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.458A>G		.	.	.	.	.	.	.	.	.	.	T	15.02	2.707828	0.48412	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.13778	2.56	4.6	0.537	0.17144	Immunoglobulin-like fold (1);	0.922461	0.09121	N	0.845713	T	0.11324	0.0276	M	0.81179	2.53	0.09310	N	1	P	0.47484	0.896	P	0.49192	0.602	T	0.14090	-1.0485	10	0.56958	D	0.05	.	5.6611	0.17670	0.1649:0.0:0.3427:0.4924	.	153	Q9UIR0	BTNL2_HUMAN	G	153	ENSP00000364132:E153G	ENSP00000364132:E153G	E	-	2	0	BTNL2	32478941	0.000000	0.05858	0.020000	0.16555	0.014000	0.08584	0.022000	0.13511	0.025000	0.15241	-0.360000	0.07572	GAG		0.607	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		C	32370963	T	C	32370963	3	2	235	1	0	0	0	0	1	0	0	0	1565	1551	54	4	925	4	BTNL2	6	32370963	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	14539496	32370963	138744104	26	16572											
DEF6	50619	broad.mit.edu	37	chr6	35280172	35280172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcccaggaggcccaggtgGcccagaccaccggggggctc	6	3	17	15	1	0	1	0	0	0	1	1	2	0	2	5	8	0	1	5	8	0	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:35280172G>A	ENST00000316637.5	+	4	522	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	173						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCCCAGGTGGCCCAGACCAC	0.647																																						uc003okk.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(517-519)Gcc>Acc		Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.							49	59	55					6																	35280172		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280172G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.517G>A	6.37:g.35280172G>A	ENSP00000319831:p.Ala173Thr					DEF6_uc010jvs.3_Missense_Mutation_p.A173T|DEF6_uc010jvt.3_Intron	p.A173T	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			3	556	+			173					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.517G>A	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.32|10.32	1.318108|1.318108	0.23994|0.23994	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000394658;ENST00000316637|ENST00000444278	T|.	0.04970|.	3.52|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.49916|.	D|.	0.000132|.	T|T	0.26268|0.26268	0.0641|0.0641	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.004;0.004|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.10132|0.10132	-1.0643|-1.0643	10|5	0.21540|.	T|.	0.41|.	-16.8947|-16.8947	15.8947|15.8947	0.79325|0.79325	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;173|.	B2RBP7;Q9H4E7|.	.;DEFI6_HUMAN|.	T|D	136;173|81	ENSP00000319831:A173T|.	ENSP00000319831:A173T|.	A|G	+|+	1|2	0|0	DEF6|DEF6	35388150|35388150	0.998000|0.998000	0.40836|0.40836	0.985000|0.985000	0.45067|0.45067	0.832000|0.832000	0.47134|0.47134	4.816000|4.816000	0.62642|0.62642	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.647	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		A	35280172	G	A	35280172	3	1	235	1	0	0	0	0	1	0	0	0	4386	1203	42	3	531	3	DEF6	6	35280172	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	2909209	35280172	135834895	27	16573											
PKHD1	5314	broad.mit.edu	37	chr6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcagaaacaaggatggCgtgtgccctgagctcgatgg	11	7	13	10	2	1	2	1	1	0	1	2	4	1	3	2	3	3	1	2	3	2	0	rs375949362		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:51799070C>T	ENST00000371117.3	-	37	6234	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1987T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1987	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1987T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0.0014	5008	,	,		19865	0		0	False		,,,				2504	0					uc003pah.1																			1	Substitution - Missense(1)	p.A1987T(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5959-5961)Gcc>Acc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA	0,4406		0,0,2203	113	105	108		5959,5959	-0.9	0.1	6		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1987/4075,1987/3397	51799070	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51799070C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5959G>A	6.37:g.51799070C>T	ENSP00000360158:p.Ala1987Thr		OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc010jzn.1_Missense_Mutation_p.A12T|PKHD1_uc003pai.3_Missense_Mutation_p.A1987T	p.A1987T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			36	6235	-	Lung NSC(77;0.0605)		1987			G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5959G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378129	0.24944	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89050	-2.46;-2.46	5.59	-0.93	0.10441	G8 domain (2);	0.848896	0.10708	N	0.643186	T	0.65770	0.2723	L	0.34521	1.04	0.09310	N	1	P;P;P	0.45474	0.859;0.714;0.529	B;B;B	0.35655	0.207;0.08;0.102	T	0.57271	-0.7840	10	0.29301	T	0.29	.	10.5006	0.44804	0.3684:0.5613:0.0703:0.0	.	1987;1987;1987	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	1987	ENSP00000360158:A1987T;ENSP00000341097:A1987T	ENSP00000341097:A1987T	A	-	1	0	PKHD1	51907029	0.035000	0.19736	0.057000	0.19452	0.924000	0.55760	0.083000	0.14871	-0.165000	0.10908	0.655000	0.94253	GCC		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51799070	C	T	51799070	3	4	235	1	0	0	0	0	1	0	0	0	11971	768	27	1	6428	1	PKHD1	6	51799070	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	16518898	51799070	119315997	28	16574											
MTHFD1L	25902	broad.mit.edu	37	chr6	151336802	151336802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggctgcgagtaaaagaagCcgattccagttcctgtatga	12	9	12	8	2	0	2	0	1	0	1	2	5	2	2	3	1	2	4	3	1	4	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:151336802C>T	ENST00000367321.3	+	24	2833	c.2559C>T	c.(2557-2559)agC>agT	p.S853S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	853	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTAAAAGAAGCCGATTCCAGT	0.493																																						uc021zgs.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2560-2562)agC>agT		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							92	85	87					6																	151336802		2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151336802C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2559C>T	6.37:g.151336802C>T						MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.S853S|MTHFD1L_uc021zgt.1_Silent_p.S788S|MTHFD1L_uc003qoc.3_Silent_p.S801S	p.S854S	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	23	2706	+		Ovarian(120;0.128)	853			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.2562C>T	CCDS5228.1																																																																																				0.493	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		T	151336802	C	T	151336802	2	4	235	1	0	0	0	0	0	0	0	1	9928	738	26	3		3	MTHFD1L	6	151336802	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	99537732	151336802	19778265	29	16575											
ADAP1	11033	broad.mit.edu	37	chr7	943765	943765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgccagcacccacctTcccgtcctcatggtagatga	7	9	9	16	2	1	2	1	1	0	1	4	2	3	2	5	1	2	3	5	1	1	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:943765T>C	ENST00000265846.5	-	6	865	c.646A>G	c.(646-648)Aag>Gag	p.K216E	ADAP1_ENST00000463358.1_5'Flank|ADAP1_ENST00000539900.1_Missense_Mutation_p.K227E|ADAP1_ENST00000449296.2_Missense_Mutation_p.K144E	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	216	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GCACCCACCTTCCCGTCCTCA	0.672																																						uc003sjo.4																			0				endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(646-648)Aag>Gag		Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.							81	69	73					7																	943765		2196	4294	6490	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:943765T>C	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.646A>G	7.37:g.943765T>C	ENSP00000265846:p.Lys216Glu					ADAP1_uc003sjm.4_Missense_Mutation_p.K42E|ADAP1_uc011jvs.2_Missense_Mutation_p.K121E|ADAP1_uc003sjn.4_Missense_Mutation_p.K144E|ADAP1_uc010ksc.3_Missense_Mutation_p.K144E	p.K216E	NM_006869	NP_006860	O75689	ADAP1_HUMAN			5	839	-			216			PH 1.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.646A>G	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.69|13.69	2.311146|2.311146	0.40895|0.40895	.|.	.|.	ENSG00000105963|ENSG00000105963	ENST00000454383|ENST00000265846;ENST00000449296;ENST00000449929;ENST00000538188;ENST00000539900;ENST00000453175	.|T;T;T	.|0.26373	.|1.74;1.74;1.74	4.29|4.29	4.29|4.29	0.51040|0.51040	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.220796	.|0.45867	.|D	.|0.000330	T|T	0.38295|0.38295	0.1035|0.1035	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58970	.|0.981;0.984	.|P;P	.|0.55923	.|0.625;0.787	T|T	0.10382|0.10382	-1.0632|-1.0632	5|10	.|0.27785	.|T	.|0.31	-40.4749|-40.4749	13.5666|13.5666	0.61822|0.61822	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|121;216	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	G|E	156|216;144;42;102;227;49	.|ENSP00000265846:K216E;ENSP00000407267:K144E;ENSP00000442682:K227E	.|ENSP00000265846:K216E	E|K	-|-	2|1	0|0	ADAP1|ADAP1	910291|910291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.268000|0.268000	0.26511|0.26511	5.828000|5.828000	0.69307|0.69307	1.797000|1.797000	0.52628|0.52628	0.454000|0.454000	0.30748|0.30748	GAA|AAG		0.672	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		C	943765	T	C	943765	3	2	235	1	0	0	0	0	1	0	0	0	279	1792	62	4	502	4	ADAP1	7	943765	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		943765	158194898	30	16576											
ZMIZ2	83637	broad.mit.edu	37	chr7	44798997	44798997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctaccctgggcacaggctgCccctgcagcagggcatgacc	7	5	12	17	0	0	1	0	1	0	0	0	1	0	1	5	3	4	5	5	3	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:44798997C>T	ENST00000309315.4	+	7	1054	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P311S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P279S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P311S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P279S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	311	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACAGGCTGCCCCTGCAGCA	0.687																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(931-933)Ccc>Tcc		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.							38	44	42					7																	44798997		2003	4151	6154	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44798997C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.931C>T	7.37:g.44798997C>T	ENSP00000311778:p.Pro311Ser					ZMIZ2_uc003tlq.3_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	p.P311S	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			6	1054	+			311			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.931C>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157951	0.78114	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.74106	1.41;-0.81;-0.81;-0.81;1.41	4.67	4.67	0.58626	.	0.151235	0.30989	N	0.008462	D	0.84479	0.5481	M	0.69823	2.125	0.48395	D	0.999649	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.91635	0.999;0.902;0.999	D	0.85041	0.0923	10	0.49607	T	0.09	-11.9208	14.5912	0.68365	0.0:1.0:0.0:0.0	.	311;311;279	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	S	279;311;311;279;311;311	ENSP00000409648:P279S;ENSP00000311778:P311S;ENSP00000414723:P311S;ENSP00000396601:P279S;ENSP00000265346:P311S	ENSP00000265346:P311S	P	+	1	0	ZMIZ2	44765522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.912000	0.48782	2.413000	0.81919	0.462000	0.41574	CCC		0.687	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		T	44798997	C	T	44798997	3	4	235	1	0	0	0	0	1	0	0	0	17694	739	26	3	953	3	ZMIZ2	7	44798997	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	43855232	44798997	114339666	31	16577											
CLIP2	7461	broad.mit.edu	37	chr7	73790959	73790959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggacgtggagtaccGgggccaggcgcaggctatcg	10	5	16	10	4	0	0	0	0	0	0	1	2	0	2	2	6	2	3	2	6	4	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:73790959G>C	ENST00000395060.1	+	9	2228	c.2228G>C	c.(2227-2229)cGg>cCg	p.R743P	CLIP2_ENST00000361545.5_Missense_Mutation_p.R708P|CLIP2_ENST00000223398.6_Missense_Mutation_p.R743P			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	743						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTGGAGTACCGGGGCCAGGCG	0.657																																						uc003uam.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2227-2229)cGg>cCg		Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.							30	39	36					7																	73790959		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73790959G>C	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2228G>C	7.37:g.73790959G>C	ENSP00000378500:p.Arg743Pro					CLIP2_uc003uan.3_Missense_Mutation_p.R708P|CLIP2_uc003uao.3_Missense_Mutation_p.R137P	p.R743P	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			9	2555	+			743					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2228G>C	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485474	0.26686	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.59502	0.27;0.26;0.27	4.9	2.7	0.31948	.	0.760653	0.12871	N	0.432288	T	0.43122	0.1233	N	0.19112	0.55	0.25483	N	0.987714	B;B;B	0.31769	0.335;0.339;0.229	B;B;B	0.36464	0.225;0.113;0.052	T	0.33420	-0.9869	10	0.33940	T	0.23	-13.0762	9.331	0.38021	0.2541:0.0:0.7459:0.0	.	708;708;743	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	P	743;743;708;743	ENSP00000223398:R743P;ENSP00000355151:R708P;ENSP00000378500:R743P	ENSP00000223398:R743P	R	+	2	0	CLIP2	73428895	0.764000	0.28473	0.997000	0.53966	0.969000	0.65631	1.100000	0.31025	1.068000	0.40764	0.449000	0.29647	CGG		0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		C	73790959	G	C	73790959	3	2	235	1	0	0	0	0	1	0	0	0	3533	1116	39	5	2262	5	CLIP2	7	73790959	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	28991962	73790959	85347704	32	16578											
OPN1SW	611	broad.mit.edu	37	chr7	128415066	128415066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaagaagggtgggatGgagacgccaataccaatggt	14	5	14	8	1	0	2	0	0	0	2	0	4	0	3	3	4	2	0	3	4	5	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:128415066G>T	ENST00000249389.2	-	2	494	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	165					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGTGGGATGGAGACGCCAA	0.552																																						uc003vnt.4																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(493-495)tcC>tcA		Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.							88	69	75					7																	128415066		2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415066G>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.495C>A	7.37:g.128415066G>T							p.S165S	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	495	-			165					Q13877	Silent	SNP	ENST00000249389.2	37	c.495C>A	CCDS5806.1																																																																																				0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		T	128415066	G	T	128415066	2	4	235	1	0	0	0	0	0	0	0	1	10880	1335	47	5		5	OPN1SW	7	128415066	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	54624107	128415066	30723597	33	16579											
ABCF2	10061	broad.mit.edu	37	chr7	150915908	150915908	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtcttctccttgctctGggcctgccgggccagcttgg	2	12	13	14	2	3	0	0	0	3	0	4	0	3	0	4	3	4	2	4	3	1	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:150915908G>A	ENST00000287844.2	-	9	1178	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.Q357*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	357					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTGCTCTGGGCCTGCCGG	0.527																																						uc003wjo.1																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(1069-1071)Cag>Tag		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							117	107	110					7																	150915908		2203	4300	6503	SO:0001587	stop_gained	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150915908G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1069C>T	7.37:g.150915908G>A	ENSP00000287844:p.Gln357*					ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q357*	p.Q357*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1180	-			357					O60864|Q75MJ0|Q75MJ1|Q96TE8	Nonsense_Mutation	SNP	ENST00000287844.2	37	c.1069C>T	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	38	7.037369	0.98017	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	.	.	.	5.21	5.21	0.72293	.	0.111020	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-21.5664	15.9438	0.79779	0.0:0.0:1.0:0.0	.	.	.	.	X	357	.	ENSP00000222388:Q357X	Q	-	1	0	ABCF2	150546841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.423000	0.82170	0.563000	0.77884	CAG		0.527	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		A	150915908	G	A	150915908	4	1	235	1	0	0	0	0	0	1	0	0	66	1357	47	3	871	3	ABCF2	7	150915908	Nonsense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	22500842	150915908	8222755	34	16580											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730590	37730590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccatgtcccaattcagagGggacagatgcctggccagag	11	6	12	12	0	1	3	1	0	0	3	2	4	2	4	4	3	1	0	4	3	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:37730590G>T	ENST00000330843.4	-	4	1742	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	577	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATTCAGAGGGGACAGATGC	0.557																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1729-1731)cCc>cAc		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.							69	63	65					8																	37730590		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730590G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1730C>A	8.37:g.37730590G>T	ENSP00000331342:p.Pro577His					RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	p.P577H	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1786	-		Lung NSC(58;0.118)|all_lung(54;0.195)	577			Ser-rich.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1730C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413733	0.62511	.	.	ENSG00000156675	ENST00000330843	T	0.12255	2.7	6.07	1.67	0.24075	.	0.685812	0.13312	N	0.397384	T	0.15565	0.0375	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.19063	-1.0317	10	0.36615	T	0.2	-1.2625	9.4909	0.38960	0.4338:0.0:0.5662:0.0	.	577	Q6WKZ4	RFIP1_HUMAN	H	577	ENSP00000331342:P577H	ENSP00000331342:P577H	P	-	2	0	RAB11FIP1	37849748	0.000000	0.05858	0.001000	0.08648	0.682000	0.39822	0.339000	0.19875	0.260000	0.21731	0.655000	0.94253	CCC		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		T	37730590	G	T	37730590	3	4	235	1	0	0	0	0	1	0	0	0	12893	1232	43	5	2133	5	RAB11FIP1	8	37730590	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		37730590	108633432	35	16581											
RALYL	138046	broad.mit.edu	37	chr8	85774532	85774532	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttgtgttttgtaaaggTtatttgattaccacgggcgt	8	17	10	6	2	0	1	0	1	0	0	0	1	0	1	2	2	1	3	2	2	4	7			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:85774532T>C	ENST00000521268.1	+	6	1520	c.415T>C	c.(415-417)Tta>Cta	p.L139L	RALYL_ENST00000518566.1_Splice_Site_p.L128L|RALYL_ENST00000517638.1_Splice_Site_p.L152L|RALYL_ENST00000523850.1_Splice_Site_p.L66L|RALYL_ENST00000521376.1_Splice_Site_p.L50L|RALYL_ENST00000522455.1_Splice_Site_p.L139L|RALYL_ENST00000521695.1_Splice_Site_p.L139L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	139							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTTGTAAAGGTTATTTGATTA	0.473																																						uc003yct.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.e6-1		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.							43	42	42					8																	85774532		1859	4110	5969	SO:0001630	splice_region_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774532T>C		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.414-1T>C	8.37:g.85774532T>C						RALYL_uc003ycq.4_Splice_Site_p.R138_splice|RALYL_uc003ycr.4_Splice_Site_p.R138_splice|RALYL_uc003ycs.4_Splice_Site_p.R138_splice|RALYL_uc010lzy.3_Splice_Site_p.R127_splice|RALYL_uc003ycu.4_Splice_Site_p.R65_splice	p.R151_splice	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN			6	587	+			138					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.453_splice	CCDS55253.1																																																																																				0.473	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		Silent	C	85774532	T	C	85774532	5	2	235	1	0	0	0	0	0	0	1	0	13020	1739	60	4	476	4	RALYL	8	85774532	Splice_Site	SNP	T	TCGA-32-4208-01A-01D-1353-08	48043942	85774532	60589490	36	16582											
PLEC	5339	broad.mit.edu	37	chr8	144991998	144991998	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttgtccttgaactcgggGcccacaatgcccatacgcac	9	8	9	15	2	0	1	0	1	0	0	2	1	1	1	3	2	4	2	3	2	3	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:144991998G>C	ENST00000322810.4	-	32	12571	c.12402C>G	c.(12400-12402)ggC>ggG	p.G4134G	PLEC_ENST00000398774.2_Silent_p.G3965G|PLEC_ENST00000527096.1_Silent_p.G4020G|PLEC_ENST00000436759.2_Silent_p.G4024G|PLEC_ENST00000354589.3_Silent_p.G3997G|PLEC_ENST00000356346.3_Silent_p.G3983G|PLEC_ENST00000354958.2_Silent_p.G3975G|PLEC_ENST00000357649.2_Silent_p.G4001G|PLEC_ENST00000345136.3_Silent_p.G3997G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4134	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAACTCGGGGCCCACAATGC	0.622																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12400-12402)ggC>ggG		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							45	53	50					8																	144991998		2184	4268	6452	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991998G>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12402C>G	8.37:g.144991998G>C						PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	p.G4134G	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	12572	-			4134			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12402C>G	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		C	144991998	G	C	144991998	2	2	235	1	0	0	0	0	0	0	0	1	12052	1190	42	5		5	PLEC	8	144991998	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	59217466	144991998	1372024	37	16583											
UNC13B	10497	broad.mit.edu	37	chr9	35386179	35386179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtacaagaactgcaaagCcctccaagagccagccaggt	14	4	10	13	0	0	2	0	0	0	2	1	2	1	2	4	2	6	2	4	2	5	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:35386179C>T	ENST00000378495.3	+	23	2958	c.2736C>T	c.(2734-2736)agC>agT	p.S912S	UNC13B_ENST00000396787.1_Silent_p.S924S|UNC13B_ENST00000378496.4_Silent_p.S912S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	912					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACTGCAAAGCCCTCCAAGAG	0.483																																						uc003zwr.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2734-2736)agC>agT		Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.							78	83	82					9																	35386179		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35386179C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2736C>T	9.37:g.35386179C>T						UNC13B_uc003zwq.3_Silent_p.S912S	p.S912S	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		22	3028	+	all_epithelial(49;0.212)		912					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2736C>T	CCDS6579.1																																																																																				0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35386179	C	T	35386179	2	4	235	1	0	0	0	0	0	0	0	1	16982	738	26	3		3	UNC13B	9	35386179	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08		35386179	105827252	38	16584											
ZNF658	26149	broad.mit.edu	37	chr9	40772547	40772547	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattcactgcattcatAgggtttctcccctgagcgag	8	11	8	14	1	3	1	2	1	1	0	4	2	3	1	3	1	2	2	3	1	1	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:40772547A>C	ENST00000602553.1	-	5	3022	c.2728T>G	c.(2728-2730)Tat>Gat	p.Y910D	ZNF658_ENST00000377626.3_Missense_Mutation_p.Y910D|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	910					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCATTCATAGGGTTTCTCC	0.448																																						uc004abs.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2728-2730)Tat>Gat		Homo sapiens zinc finger protein 658 (ZNF658), mRNA.							93	92	93					9																	40772547		2201	4279	6480	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772547A>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2728T>G	9.37:g.40772547A>C	ENSP00000473484:p.Tyr910Asp					ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	p.Y910D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	2880	-			910					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2728T>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	a	14.24	2.475562	0.43942	.	.	ENSG00000196409	ENST00000377626	T	0.25579	1.79	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58481	0.2125	H	0.97758	4.07	0.29242	N	0.872584	D	0.65815	0.995	P	0.62089	0.898	T	0.57376	-0.7822	9	0.87932	D	0	.	7.7326	0.28796	1.0:0.0:0.0:0.0	.	910	Q5TYW1	ZN658_HUMAN	D	910	ENSP00000366853:Y910D	ENSP00000366853:Y910D	Y	-	1	0	ZNF658	40762547	0.005000	0.15991	0.981000	0.43875	0.979000	0.70002	2.011000	0.40922	1.131000	0.42111	0.423000	0.28283	TAT		0.448	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		C	40772547	A	C	40772547	3	2	235	1	0	0	0	0	1	0	0	0	18066	420	15	5	455	5	ZNF658	9	40772547	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	5386368	40772547	100440884	39	16585											
ANKRD16	54522	broad.mit.edu	37	chr10	5929963	5929963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcaggagtggattggCgccatgttccaccagctcct	6	12	11	12	1	2	0	1	0	1	0	4	2	4	2	4	3	1	3	4	3	0	4	rs537519126	byFrequency	TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:5929963C>T	ENST00000380094.5	-	2	925	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ANKRD16_ENST00000380092.4_Missense_Mutation_p.A128T|FBXO18_ENST00000362091.4_5'Flank|ANKRD16_ENST00000191063.8_Missense_Mutation_p.A128T|FBXO18_ENST00000397269.3_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	128			A -> G (in dbSNP:rs2296136).							breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGTGGATTGGCGCCATGTTCC	0.552													C|||	2	0.000399361	0	0	5008	,	,		15446	0.002		0	False		,,,				2504	0					uc010qat.2																			0		p.A128G(1)|p.G127G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						c.(382-384)Gcc>Acc		Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.							142	139	140					10																	5929963		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5929963C>T	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.382G>A	10.37:g.5929963C>T	ENSP00000369436:p.Ala128Thr					ANKRD16_uc009xie.3_Missense_Mutation_p.A128T|ANKRD16_uc009xif.3_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.3_Missense_Mutation_p.A128T|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank	p.A128T	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			1	925	-			128		A -> G (in dbSNP:rs2296136).			A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.382G>A	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465759	0.84425	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.76186	1.77;1.77;-1.0	4.85	3.93	0.45458	Ankyrin repeat-containing domain (4);	0.053190	0.85682	D	0.000000	D	0.87767	0.6260	M	0.90369	3.11	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.89810	0.3981	10	0.72032	D	0.01	-13.0387	13.3729	0.60723	0.0:0.9211:0.0:0.0789	.	128;128;128	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	T	128	ENSP00000369436:A128T;ENSP00000369434:A128T;ENSP00000352361:A128T	ENSP00000352361:A128T	A	-	1	0	ANKRD16	5969969	1.000000	0.71417	0.120000	0.21714	0.854000	0.48673	5.710000	0.68392	1.162000	0.42619	0.558000	0.71614	GCC		0.552	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		T	5929963	C	T	5929963	3	4	235	1	0	0	0	0	1	0	0	0	645	768	27	1	727	1	ANKRD16	10	5929963	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		5929963	129604784	40	16586											
ERCC6	2074	broad.mit.edu	37	chr10	50690763	50690763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatttgaatatcccccCatggtgatggggacggagaa	12	8	13	8	1	0	3	0	2	0	1	1	6	1	4	3	4	1	1	3	4	4	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:50690763C>T	ENST00000355832.5	-	10	2217	c.2139G>A	c.(2137-2139)atG>atA	p.M713I	ERCC6_ENST00000542458.1_Missense_Mutation_p.M83I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	713					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATATCCCCCCATGGTGATGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0		p.M713T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2137-2139)atG>atA	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							70	67	68					10																	50690763		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690763C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2139G>A	10.37:g.50690763C>T	ENSP00000348089:p.Met713Ile					ERCC6_uc010qgr.2_Missense_Mutation_p.M83I|ERCC6_uc001jhr.4_Missense_Mutation_p.M113I	p.M713I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			9	2293	-			713					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2139G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991596	0.74703	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.92911	-3.13;-3.13	5.68	5.68	0.88126	SNF2-related (1);	.	.	.	.	D	0.89763	0.6809	N	0.04959	-0.14	0.80722	D	1	D;B	0.59357	0.985;0.071	P;B	0.61003	0.882;0.18	D	0.88965	0.3396	9	0.23891	T	0.37	-28.2832	17.9728	0.89118	0.0:1.0:0.0:0.0	.	713;122	Q03468;Q59FF6	ERCC6_HUMAN;.	I	713;122;83	ENSP00000348089:M713I;ENSP00000445134:M83I	ENSP00000348089:M713I	M	-	3	0	ERCC6	50360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.796000	0.85898	2.693000	0.91896	0.655000	0.94253	ATG		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		T	50690763	C	T	50690763	3	4	235	1	0	0	0	0	1	0	0	0	5217	594	21	3	2390	3	ERCC6	10	50690763	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	44760800	50690763	84843984	41	16587											
HECTD2	143279	broad.mit.edu	37	chr10	93244394	93244394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggattccatcagccgctAaagtgttggctttacttagt	8	14	11	8	1	1	0	1	0	0	0	2	1	2	1	2	3	2	3	2	3	4	6			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:93244394A>G	ENST00000298068.5	+	9	1046	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.K322E|HECTD2_ENST00000498446.1_3'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	318					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCAGCCGCTAAAGTGTTGGC	0.333																																					NSCLC(12;376 469 1699 39910 41417)	uc010qnm.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(964-966)Aaa>Gaa		Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.							64	68	67					10																	93244394		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244394A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.952A>G	10.37:g.93244394A>G	ENSP00000298068:p.Lys318Glu					LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.K318E|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	p.K322E	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			9	1064	+			318					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.964A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861218	0.91433	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.38240	1.15;1.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	M	0.78801	2.425	0.80722	D	1	D;D	0.71674	0.998;0.996	P;D	0.66351	0.821;0.943	T	0.65524	-0.6147	10	0.72032	D	0.01	.	16.3513	0.83213	1.0:0.0:0.0:0.0	.	322;318	E7ERR3;Q5U5R9	.;HECD2_HUMAN	E	322;44;318	ENSP00000401023:K322E;ENSP00000298068:K318E	ENSP00000298068:K318E	K	+	1	0	HECTD2	93234374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.580000	0.90784	2.252000	0.74401	0.533000	0.62120	AAA		0.333	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			G	93244394	A	G	93244394	3	3	235	1	0	0	0	0	1	0	0	0	7040	363	13	4	1010	4	HECTD2	10	93244394	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	42553631	93244394	42290353	42	16588											
NUP98	4928	broad.mit.edu	37	chr11	3744479	3744479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttcttcactgcttcctTccagcccatttcgcaaagca	8	13	5	15	2	2	0	1	0	1	0	5	0	4	0	3	0	3	4	3	0	1	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:3744479T>C	ENST00000324932.7	-	16	2474	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	NUP98_ENST00000397007.4_Missense_Mutation_p.E702G|NUP98_ENST00000397004.4_Missense_Mutation_p.E685G|NUP98_ENST00000355260.3_Missense_Mutation_p.E685G|NUP98_ENST00000359171.4_Missense_Mutation_p.E685G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	702					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCTTCCTTCCAGCCCATT	0.433			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	uc001lyh.3				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2053-2055)gAa>gGa		Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.							174	148	157					11																	3744479		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3744479T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2054A>G	11.37:g.3744479T>C	ENSP00000316032:p.Glu685Gly					NUP98_uc001lyi.3_Missense_Mutation_p.E685G|NUP98_uc001lyj.2_Missense_Mutation_p.E685G|NUP98_uc001lyk.2_Missense_Mutation_p.E702G	p.E685G	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	15	2475	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	702					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2054A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444435	0.83993	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.74076	0.3669	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.79108	0.975;0.805;0.992;0.992	T	0.71859	-0.4465	9	0.27082	T	0.32	.	13.3986	0.60870	0.0:0.0:0.0:1.0	.	702;685;685;685	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	G	685;685;685;685;702	.	ENSP00000316032:E685G	E	-	2	0	NUP98	3701055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.469000	0.73555	1.773000	0.52216	0.477000	0.44152	GAA		0.433	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		C	3744479	T	C	3744479	3	2	235	1	0	0	0	0	1	0	0	0	10773	1783	62	4	3441	4	NUP98	11	3744479	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		3744479	131262037	43	16589											
GALNTL4	374378	broad.mit.edu	37	chr11	11470460	11470460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgaagggctcggcctctgCctcctcaggcttggcaggag	5	9	15	12	1	2	1	1	1	1	0	4	2	3	2	3	5	1	3	3	5	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:11470460C>T	ENST00000227756.4	-	2	670	c.259G>A	c.(259-261)Gca>Aca	p.A87T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	87					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCGGCCTCTGCCTCCTCAGGC	0.602																																						uc001mjo.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(259-261)Gca>Aca		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.							17	19	19					11																	11470460		2199	4293	6492	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11470460C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.259G>A	11.37:g.11470460C>T	ENSP00000227756:p.Ala87Thr						p.A87T	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	1	680	-			87					O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.259G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065389	0.20067	.	.	ENSG00000110328	ENST00000227756	T	0.55413	0.52	5.36	3.17	0.36434	.	0.869986	0.10348	N	0.685463	T	0.21468	0.0517	N	0.02539	-0.55	0.22366	N	0.999164	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.13853	T	0.58	.	2.7394	0.05249	0.2833:0.5382:0.0:0.1784	.	87	Q6P9A2	GLTL4_HUMAN	T	87	ENSP00000227756:A87T	ENSP00000227756:A87T	A	-	1	0	GALNTL4	11427036	0.889000	0.30405	1.000000	0.80357	0.986000	0.74619	3.267000	0.51577	1.196000	0.43129	0.561000	0.74099	GCA		0.602	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		T	11470460	C	T	11470460	3	4	235	1	0	0	0	0	1	0	0	0	6223	739	26	3	1604	3	GALNTL4	11	11470460	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	7725981	11470460	123536056	44	16590											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602005	64602005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagctccagcctggcCgaggcctccatcttctgcag	6	8	11	16	1	2	0	0	0	2	0	4	2	4	0	5	2	4	3	5	2	0	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:64602005C>T	ENST00000342711.5	-	19	2219	c.2220G>A	c.(2218-2220)tcG>tcA	p.S740S	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCAGCCTGGCCGAGGCCTCCA	0.672																																						uc001obs.4																			0				central_nervous_system(1)|lung(3)	4						c.(2218-2220)tcG>tcA		Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.							9	10	9					11																	64602005		2184	4271	6455	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602005C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2220G>A	11.37:g.64602005C>T							p.S740S	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			18	2220	-			740						Silent	SNP	ENST00000342711.5	37	c.2220G>A	CCDS31601.1																																																																																				0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64602005	C	T	64602005	2	4	235	1	0	0	0	0	0	0	0	1	3074	639	23	2		2	CDC42BPG	11	64602005	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	53131545	64602005	70404511	45	16591											
CREBZF	58487	broad.mit.edu	37	chr11	85375510	85375510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccacaggccgccgctatccGagcctccgccagacgaggag	8	4	12	17	5	0	1	0	0	0	1	3	4	3	2	7	2	1	1	7	2	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:85375510G>C	ENST00000527447.1	-	1	636	c.410C>G	c.(409-411)tCg>tGg	p.S137W	CREBZF_ENST00000398294.2_Missense_Mutation_p.S55W|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	137					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCCGCTATCCGAGCCTCCGCC	0.657																																					NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(409-411)tCg>tGg		Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.							27	33	31					11																	85375510		1940	4150	6090	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375510G>C	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.410C>G	11.37:g.85375510G>C	ENSP00000433459:p.Ser137Trp					CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	p.S137W	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			0	673	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	137					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.410C>G	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126517	0.77549	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.41	4.41	0.53225	.	0.143211	0.30704	N	0.009058	T	0.54902	0.1887	N	0.19112	0.55	0.51233	D	0.999915	D	0.76494	0.999	D	0.79108	0.992	T	0.52185	-0.8609	8	.	.	.	-14.9531	12.3863	0.55335	0.0:0.0:1.0:0.0	.	137	Q9NS37	ZHANG_HUMAN	W	55;137	.	.	S	-	2	0	CREBZF	85053158	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	4.432000	0.59922	2.289000	0.77006	0.561000	0.74099	TCG		0.657	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		C	85375510	G	C	85375510	3	2	235	1	0	0	0	0	1	0	0	0	3863	1059	37	5	658	5	CREBZF	11	85375510	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	20773505	85375510	49631006	46	16592											
C12orf60	144608	broad.mit.edu	37	chr12	14975979	14975979	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacacactgactgaattgtTtagccgcagtatgaatactc	14	11	7	9	1	0	3	0	3	0	0	1	3	0	3	1	0	3	3	1	0	6	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:14975979T>G	ENST00000330828.2	+	2	314	c.110T>G	c.(109-111)tTt>tGt	p.F37C	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	37										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACTGAATTGTTTAGCCGCAGT	0.343																																						uc001rcj.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(109-111)tTt>tGt		Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.							83	82	82					12																	14975979		2203	4300	6503	SO:0001583	missense	144608							g.chr12:14975979T>G	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.110T>G	12.37:g.14975979T>G	ENSP00000331691:p.Phe37Cys					C12orf60_uc021qvq.1_Missense_Mutation_p.F37C	p.F37C	NM_175874	NP_787070	Q5U649	CL060_HUMAN			1	314	+			37					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.110T>G	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455329	0.43634	.	.	ENSG00000182993	ENST00000330828	T	0.18016	2.24	5.19	2.83	0.33086	.	0.307884	0.23859	N	0.043875	T	0.11965	0.0291	L	0.36672	1.1	0.09310	N	1	B	0.32051	0.354	B	0.29716	0.106	T	0.20075	-1.0286	10	0.72032	D	0.01	-6.2163	5.6185	0.17444	0.1704:0.0:0.1783:0.6513	.	37	Q5U649	CL060_HUMAN	C	37	ENSP00000331691:F37C	ENSP00000331691:F37C	F	+	2	0	C12orf60	14867246	0.738000	0.28186	0.014000	0.15608	0.009000	0.06853	1.338000	0.33873	0.430000	0.26230	0.459000	0.35465	TTT		0.343	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		G	14975979	T	G	14975979	3	3	235	1	0	0	0	0	1	0	0	0	1703	1841	64	5	112	5	C12orf60	12	14975979	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		14975979	118875916	47	16593											
LEMD3	23592	broad.mit.edu	37	chr12	65632357	65632357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatggaaaagatgttggaAtaaggtaaaggatctgattt	18	11	11	1	0	1	2	0	1	1	1	1	5	1	5	0	4	0	2	0	4	8	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:65632357A>G	ENST00000308330.2	+	5	1797	c.1771A>G	c.(1771-1773)Ata>Gta	p.I591V		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	591					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGATGTTGGAATAAGGTAAAG	0.313																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1771-1773)Ata>Gta		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							66	65	65					12																	65632357		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65632357A>G	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1771A>G	12.37:g.65632357A>G	ENSP00000308369:p.Ile591Val					LEMD3_uc009zqo.2_Missense_Mutation_p.I590V	p.I591V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	4	1797	+			591					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1771A>G	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015148	0.75161	.	.	ENSG00000174106	ENST00000308330	T	0.58652	0.32	4.88	4.88	0.63580	Inner nuclear membrane protein MAN1 (1);	0.048960	0.85682	D	0.000000	T	0.73110	0.3545	M	0.71581	2.175	0.80722	D	1	D	0.61697	0.99	D	0.67548	0.952	T	0.74520	-0.3638	9	.	.	.	-13.4675	15.2018	0.73142	1.0:0.0:0.0:0.0	.	591	Q9Y2U8	MAN1_HUMAN	V	591	ENSP00000308369:I591V	.	I	+	1	0	LEMD3	63918624	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.766000	0.74970	2.140000	0.66376	0.528000	0.53228	ATA		0.313	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			G	65632357	A	G	65632357	3	3	235	1	0	0	0	0	1	0	0	0	8721	101	4	4	1789	4	LEMD3	12	65632357	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	50656378	65632357	68219538	48	16594											
ANO4	121601	broad.mit.edu	37	chr12	101480543	101480543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatcaggaataactctcagGttgcaaccacagggactgct	13	9	9	10	0	2	0	2	0	1	0	3	2	2	2	1	3	4	3	1	3	4	3	rs200715860		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:101480543G>C	ENST00000392977.3	+	17	1852	c.1642G>C	c.(1642-1644)Gtt>Ctt	p.V548L	ANO4_ENST00000299222.9_Missense_Mutation_p.V68L|ANO4_ENST00000392979.3_Missense_Mutation_p.V513L|ANO4_ENST00000550015.1_Missense_Mutation_p.V68L			Q32M45	ANO4_HUMAN	anoctamin 4	548					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAACTCTCAGGTTGCAACCAC	0.493										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1642-1644)Gtt>Ctt		Homo sapiens anoctamin 4 (ANO4), mRNA.							265	216	232					12																	101480543		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101480543G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1642G>C	12.37:g.101480543G>C	ENSP00000376703:p.Val548Leu	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	p.V548L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			16	2214	+			548					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1642G>C		.	.	.	.	.	.	.	.	.	.	G	10.91	1.485124	0.26598	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.44953	0.1318	N	0.02736	-0.51	0.53005	D	0.999965	B;P;B	0.34815	0.08;0.47;0.199	B;B;B	0.43445	0.108;0.42;0.193	T	0.44221	-0.9342	10	0.05721	T	0.95	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	68;548;513	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	L	513;68;548;68	ENSP00000376705:V513L;ENSP00000299222:V68L;ENSP00000376703:V548L;ENSP00000450192:V68L	ENSP00000299222:V68L	V	+	1	0	ANO4	100004674	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.920000	0.48844	2.746000	0.94184	0.655000	0.94253	GTT		0.493	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		C	101480543	G	C	101480543	3	2	235	1	0	0	0	0	1	0	0	0	699	1261	44	5	1595	5	ANO4	12	101480543	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	35848186	101480543	32371352	49	16595											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20233374	20233374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgtgaaaaatggggattAtattactgtaaaagttgcac	14	13	10	4	0	0	1	0	1	0	0	0	2	0	2	0	2	3	4	0	2	7	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:20233374A>G	ENST00000361479.5	+	7	1804	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Y579C	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	579					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AATGGGGATTATATTACTGTA	0.284																																						uc001umh.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1735-1737)tAt>tGt		Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.							70	74	72					13																	20233374		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20233374A>G	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1736A>G	13.37:g.20233374A>G	ENSP00000355388:p.Tyr579Cys					MPHOSPH8_uc001umg.3_Missense_Mutation_p.Y579C	p.Y579C	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	6	1837	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	579					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1736A>G	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028442	0.75390	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75311	-0.3362	10	0.72032	D	0.01	.	15.347	0.74346	1.0:0.0:0.0:0.0	.	579;579	Q99549;Q99549-2	MPP8_HUMAN;.	C	579	ENSP00000414663:Y579C;ENSP00000355388:Y579C	ENSP00000355388:Y579C	Y	+	2	0	MPHOSPH8	19131374	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.518000	0.90559	2.075000	0.62263	0.459000	0.35465	TAT		0.284	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		G	20233374	A	G	20233374	3	3	235	1	0	0	0	0	1	0	0	0	9727	449	16	4	1762	4	MPHOSPH8	13	20233374	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		20233374	94936504	50	16596											
PAN3	255967	broad.mit.edu	37	chr13	28794497	28794497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccatgggaagccctgctActgctggattagcgccaggt	8	9	12	12	1	0	0	0	0	0	0	1	2	1	2	3	3	5	2	3	3	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:28794497A>G	ENST00000380958.3	+	6	1134	c.982A>G	c.(982-984)Act>Gct	p.T328A	PAN3_ENST00000399613.1_Missense_Mutation_p.T128A	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGCCCTGCTACTGCTGGATT	0.438																																						uc001urz.3																			0		p.R327C(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(982-984)Act>Gct		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							178	178	178					13																	28794497		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794497A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.982A>G	13.37:g.28794497A>G	ENSP00000370345:p.Thr328Ala					PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.T128A	p.T328A	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	1134	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	328			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.982A>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	0.886	-0.727224	0.03158	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.40756	1.03;1.02	5.23	0.985	0.19779	.	0.463284	0.25484	N	0.030349	T	0.13970	0.0338	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33369	-0.9871	10	0.02654	T	1	-3.0562	10.2579	0.43408	0.5512:0.0:0.4488:0.0	.	328;328;274	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	A	328;128	ENSP00000370345:T328A;ENSP00000382522:T128A	ENSP00000370345:T328A	T	+	1	0	PAN3	27692497	0.996000	0.38824	0.998000	0.56505	0.961000	0.63080	0.502000	0.22594	0.285000	0.22329	-0.388000	0.06559	ACT		0.438	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28794497	A	G	28794497	3	3	235	1	0	0	0	0	1	0	0	0	11415	391	14	4	1004	4	PAN3	13	28794497	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	8561123	28794497	86375381	51	16597											
FRY	10129	broad.mit.edu	37	chr13	32808846	32808846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcacatgccttatctgAccttctctcaagattggtgg	8	13	9	11	0	4	2	2	1	2	1	5	2	4	2	2	2	2	1	2	2	2	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:32808846A>G	ENST00000380250.3	+	42	6159	c.5663A>G	c.(5662-5664)gAc>gGc	p.D1888G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1888						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCTTATCTGACCTTCTCTCA	0.517																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5662-5664)gAc>gGc		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							97	94	95					13																	32808846		1990	4175	6165	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32808846A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5663A>G	13.37:g.32808846A>G	ENSP00000369600:p.Asp1888Gly					FRY_uc010tdw.2_Non-coding_Transcript	p.D1888G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	41	6159	+		Lung SC(185;0.0271)	1888					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5663A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055006	0.55325	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29142	1.58	6.07	6.07	0.98685	.	0.048598	0.85682	D	0.000000	T	0.41971	0.1182	M	0.79805	2.47	0.80722	D	1	B	0.19073	0.033	B	0.23018	0.043	T	0.34079	-0.9843	10	0.72032	D	0.01	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	1888	Q5TBA9	FRY_HUMAN	G	1888;725	ENSP00000369600:D1888G	ENSP00000369600:D1888G	D	+	2	0	FRY	31706846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.093000	0.71422	2.330000	0.79161	0.528000	0.53228	GAC		0.517	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		G	32808846	A	G	32808846	3	3	235	1	0	0	0	0	1	0	0	0	6063	275	10	4	5829	4	FRY	13	32808846	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	4014349	32808846	82361032	52	16598											
RAP2A	5911	broad.mit.edu	37	chr13	98086962	98086962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacggccagggcttcatcCtcgtctacagcctcgtcaac	9	8	9	15	3	3	1	2	0	1	1	6	1	4	1	3	2	4	1	3	2	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:98086962C>G	ENST00000245304.4	+	1	487	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	80					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GGGCTTCATCCTCGTCTACAG	0.632																																						uc001vnd.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(238-240)Ctc>Gtc		Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.							101	92	95					13																	98086962		2203	4300	6503	SO:0001583	missense	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086962C>G	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.238C>G	13.37:g.98086962C>G	ENSP00000245304:p.Leu80Val						p.L80V	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		0	488	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		80					B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	ENST00000245304.4	37	c.238C>G	CCDS9485.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827631	0.50845	.	.	ENSG00000125249	ENST00000245304	T	0.79247	-1.25	3.19	3.19	0.36642	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.76111	0.3942	L	0.55834	1.745	0.80722	D	1	B	0.21821	0.061	B	0.32724	0.151	T	0.78036	-0.2361	10	0.66056	D	0.02	.	14.9176	0.70810	0.0:1.0:0.0:0.0	.	80	P10114	RAP2A_HUMAN	V	80	ENSP00000245304:L80V	ENSP00000245304:L80V	L	+	1	0	RAP2A	96884963	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.566000	0.67372	1.816000	0.52996	0.484000	0.47621	CTC		0.632	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			G	98086962	C	G	98086962	3	3	235	1	0	0	0	0	1	0	0	0	13040	681	24	5	240	5	RAP2A	13	98086962	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	65278116	98086962	17082916	53	16599											
OSGEP	328	broad.mit.edu	37	chr14	20922812	20922812	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgccaatcttattggCgctgccttcaaaacccagca	10	8	7	16	2	2	0	1	0	1	0	2	0	2	0	4	1	3	2	4	1	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:20922812C>T	ENST00000216714.3	+	0	0				OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank|OSGEP_ENST00000206542.4_Missense_Mutation_p.A11T|RP11-203M5.7_ENST00000555435.1_RNA|APEX1_ENST00000398030.4_5'Flank|APEX1_ENST00000555414.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ATCTTATTGGCGCTGCCTTCA	0.632								Other BER factors																														uc001vxf.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(31-33)Gcc>Acc		Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.							43	46	45					14																	20922812		2203	4295	6498	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20922812C>T	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20922812C>T	Exception_encountered					APEX1_uc001vxg.3_5'Flank|APEX1_uc001vxh.3_5'Flank|APEX1_uc001vxi.3_5'Flank|APEX1_uc021rnr.1_5'Flank	p.A11T	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	0	456	-	all_cancers(95;0.00123)	all_lung(585;0.235)	11					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.31G>A	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261000	0.97421	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T	0.52983	2.67;0.64	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.87339	0.2330	10	0.87932	D	0	-20.3609	18.6545	0.91445	0.0:1.0:0.0:0.0	.	11	Q9NPF4	OSGEP_HUMAN	T	11	ENSP00000206542:A11T;ENSP00000450507:A11T	ENSP00000206542:A11T	A	-	1	0	OSGEP	19992652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.911000	0.75746	2.941000	0.99782	0.655000	0.94253	GCC		0.632	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		T	20922812	C	T	20922812	1	4	235	0	1	0	0	0	0	0	0	0	11287	768	27	1		1	OSGEP	14	20922812	5'Flank	SNP	C	TCGA-32-4208-01A-01D-1353-08		20922812	86426728	54	16600											
C14orf166B	145497	broad.mit.edu	37	chr14	77292858	77292858	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcacatccaattcccatCaaagcctactcttcccaggg	11	9	5	16	0	2	0	1	0	1	0	5	0	5	0	4	1	3	1	4	1	3	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:77292858C>G	ENST00000393774.3	+	1	144	c.20C>G	c.(19-21)tCa>tGa	p.S7*	C14orf166B_ENST00000450042.2_5'UTR|C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CAATTCCCATCAAAGCCTACT	0.547																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(19-21)tCa>tGa		Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.							68	71	70					14																	77292858		692	1591	2283	SO:0001587	stop_gained	145497							g.chr14:77292858C>G																												ENST00000393774.3:c.20C>G	14.37:g.77292858C>G	ENSP00000377369:p.Ser7*					C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript	p.S7*	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	0	134	+			7						Nonsense_Mutation	SNP	ENST00000393774.3	37	c.20C>G	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317329	0.40996	.	.	ENSG00000100565	ENST00000393774;ENST00000555189	.	.	.	5.23	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.21220	N	0.999758	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.3799	0.38306	0.2677:0.7323:0.0:0.0	.	.	.	.	X	7	.	ENSP00000216450:S7X	S	+	2	0	C14orf166B	76362611	0.105000	0.21958	0.014000	0.15608	0.034000	0.12701	2.062000	0.41413	2.463000	0.83235	0.467000	0.42956	TCA		0.547	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			G	77292858	C	G	77292858	4	3	235	1	0	0	0	0	0	1	0	0	1757	838	29	5	22	5	C14orf166B	14	77292858	Nonsense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	56370046	77292858	30056682	55	16601											
HERC2	8924	broad.mit.edu	37	chr15	28474893	28474893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaattcagcaattgtaCtgaggagtggagactgcgga	12	8	15	6	1	1	2	1	1	0	1	1	5	1	4	0	4	3	3	0	4	3	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:28474893C>A	ENST00000261609.7	-	32	5018	c.4910G>T	c.(4909-4911)aGt>aTt	p.S1637I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAATTGTACTGAGGAGTGG	0.428																																						uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4909-4911)aGt>aTt		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							96	108	104					15																	28474893		2201	4296	6497	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28474893C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4910G>T	15.37:g.28474893C>A	ENSP00000261609:p.Ser1637Ile						p.S1637I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	31	5016	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1637						Missense_Mutation	SNP	ENST00000261609.7	37	c.4910G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755907	0.31046	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	4.24	3.31	0.37934	.	0.488214	0.23708	N	0.045344	T	0.28333	0.0700	L	0.29908	0.895	0.28572	N	0.910564	B	0.06786	0.001	B	0.04013	0.001	T	0.14448	-1.0472	10	0.35671	T	0.21	.	8.5961	0.33716	0.0:0.7903:0.0:0.2097	.	1637	O95714	HERC2_HUMAN	I	1637	ENSP00000261609:S1637I	ENSP00000261609:S1637I	S	-	2	0	HERC2	26148488	1.000000	0.71417	0.926000	0.36857	0.859000	0.49053	1.171000	0.31896	0.973000	0.38340	0.555000	0.69702	AGT		0.428	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28474893	C	A	28474893	3	1	235	1	0	0	0	0	1	0	0	0	7058	565	20	5	9842	5	HERC2	15	28474893	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		28474893	74056499	56	16602											
MYO1E	4643	broad.mit.edu	37	chr15	59502739	59502739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctctatgaggtcacataCgattttattattaaagtact	12	17	6	6	1	2	1	1	1	1	0	3	2	2	1	0	1	2	2	0	1	7	8			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:59502739C>G	ENST00000288235.4	-	13	1735	c.1336G>C	c.(1336-1338)Gta>Cta	p.V446L	RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	446	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGTCACATACGATTTTATTA	0.348																																						uc002aga.3																			0		p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1336-1338)Gta>Cta		Homo sapiens myosin IE (MYO1E), mRNA.							195	186	189					15																	59502739		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59502739C>G	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1336G>C	15.37:g.59502739C>G	ENSP00000288235:p.Val446Leu						p.V446L	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	12	1708	-			446			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1336G>C	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892406	0.91889	.	.	ENSG00000157483	ENST00000288235	D	0.95588	-3.75	5.36	5.36	0.76844	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98450	1.0591	10	0.87932	D	0	.	19.2753	0.94029	0.0:1.0:0.0:0.0	.	446	Q12965	MYO1E_HUMAN	L	446	ENSP00000288235:V446L	ENSP00000288235:V446L	V	-	1	0	MYO1E	57290031	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.625000	0.83145	2.797000	0.96272	0.561000	0.74099	GTA		0.348	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		G	59502739	C	G	59502739	3	3	235	1	0	0	0	0	1	0	0	0	10072	536	19	5	2054	5	MYO1E	15	59502739	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	31027846	59502739	43028653	57	16603											
C16orf59	80178	broad.mit.edu	37	chr16	2512205	2512205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccacggatgccgccgctGccaaaacccagttcctccag	9	7	8	17	3	0	0	0	0	0	0	3	1	3	1	7	1	3	2	7	1	2	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:2512205G>A	ENST00000361837.4	+	6	780	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	C16orf59_ENST00000563531.1_Missense_Mutation_p.A239T|C16orf59_ENST00000569496.1_Missense_Mutation_p.A239T|RP11-715J22.4_ENST00000566085.1_lincRNA|RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000483320.1_Missense_Mutation_p.A72T	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	239										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TGCCGCCGCTGCCAAAACCCA	0.612																																						uc002cqh.3																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(715-717)Gcc>Acc		Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.							50	53	52					16																	2512205		1985	4158	6143	SO:0001583	missense	80178							g.chr16:2512205G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.715G>A	16.37:g.2512205G>A	ENSP00000355022:p.Ala239Thr					C16orf59_uc002cqg.2_Missense_Mutation_p.A72T|C16orf59_uc002cqi.3_Missense_Mutation_p.A72T|C16orf59_uc010uwb.2_Missense_Mutation_p.A72T	p.A239T	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			5	746	+		Ovarian(90;0.17)	239					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.715G>A	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107089	0.20714	.	.	ENSG00000162062	ENST00000361837	T	0.53423	0.62	4.0	1.9	0.25705	.	0.295217	0.23904	N	0.043405	T	0.44030	0.1274	L	0.54323	1.7	0.22226	N	0.999276	P;P;P;P	0.52061	0.95;0.484;0.484;0.484	P;B;B;B	0.49502	0.613;0.207;0.241;0.147	T	0.24261	-1.0165	10	0.33141	T	0.24	-7.315	4.9922	0.14220	0.111:0.0:0.6572:0.2318	.	72;239;72;72	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	T	239	ENSP00000355022:A239T	ENSP00000355022:A239T	A	+	1	0	C16orf59	2452206	0.613000	0.27009	0.073000	0.20177	0.067000	0.16453	1.586000	0.36611	0.388000	0.25054	0.655000	0.94253	GCC		0.612	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		A	2512205	G	A	2512205	3	1	235	1	0	0	0	0	1	0	0	0	1823	1319	46	3	737	3	C16orf59	16	2512205	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		2512205	87842548	58	16604											
TMC5	79838	broad.mit.edu	37	chr16	19477522	19477522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttcacaatcggagcatGcttgaccacctgcttcttca	9	12	6	14	1	4	1	2	1	2	0	5	2	4	2	2	1	3	3	2	1	1	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:19477522G>A	ENST00000396229.2	+	9	2353	c.1604G>A	c.(1603-1605)tGc>tAc	p.C535Y	TMC5_ENST00000561503.1_Missense_Mutation_p.C176Y|TMC5_ENST00000381414.4_Missense_Mutation_p.C535Y|TMC5_ENST00000541464.1_Missense_Mutation_p.C535Y|TMC5_ENST00000542583.2_Missense_Mutation_p.C535Y|TMC5_ENST00000219821.5_Missense_Mutation_p.C289Y|TMC5_ENST00000564959.1_Missense_Mutation_p.C218Y	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	535					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATCGGAGCATGCTTGACCACC	0.458																																						uc002dgc.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1603-1605)tGc>tAc		Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.							190	143	159					16																	19477522		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19477522G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1604G>A	16.37:g.19477522G>A	ENSP00000379531:p.Cys535Tyr					TMC5_uc010vaq.2_Missense_Mutation_p.C535Y|TMC5_uc002dgb.4_Missense_Mutation_p.C535Y|TMC5_uc010var.2_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.4_Missense_Mutation_p.C289Y|TMC5_uc002dgf.4_Missense_Mutation_p.C218Y|TMC5_uc002dgg.4_Missense_Mutation_p.C176Y	p.C535Y	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			8	2353	+			535					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1604G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.094535	0.00364	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.3	3.06	0.35304	.	0.054497	0.85682	D	0.000000	T	0.17704	0.0425	N	0.04636	-0.2	0.32418	N	0.549732	B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.002;0.004	B;B;B;B;B;B	0.09377	0.004;0.001;0.002;0.001;0.001;0.004	T	0.11084	-1.0602	10	0.11182	T	0.66	-16.2195	2.3601	0.04305	0.2902:0.3176:0.3922:0.0	.	535;218;289;289;535;535	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	Y	535;535;535;535;289;218	ENSP00000441227:C535Y;ENSP00000370822:C535Y;ENSP00000379531:C535Y;ENSP00000446274:C535Y;ENSP00000219821:C289Y	ENSP00000219821:C289Y	C	+	2	0	TMC5	19385023	1.000000	0.71417	0.007000	0.13788	0.008000	0.06430	3.230000	0.51286	1.194000	0.43101	0.555000	0.69702	TGC		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		A	19477522	G	A	19477522	3	1	235	1	0	0	0	0	1	0	0	0	15985	1319	46	3	1944	3	TMC5	16	19477522	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	16965317	19477522	70877231	59	16605											
SCNN1B	6338	broad.mit.edu	37	chr16	23360058	23360058	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcatctgtgaggggccCaagaagaaagccatgtggtt	11	8	13	9	1	2	3	1	1	1	2	2	3	2	3	2	3	1	2	2	3	3	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:23360058C>A	ENST00000343070.2	+	2	314	c.138C>A	c.(136-138)ccC>ccA	p.P46P	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Silent_p.P91P|SCNN1B_ENST00000568085.1_Silent_p.P46P|SCNN1B_ENST00000568923.1_Silent_p.P46P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	46					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTGAGGGGCCCAAGAAGAAAG	0.612																																						uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(136-138)ccC>ccA		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						77	66	69					16																	23360058		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23360058C>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.138C>A	16.37:g.23360058C>A							p.P46P	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	1	314	+			46					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.138C>A	CCDS10609.1																																																																																				0.612	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23360058	C	A	23360058	2	1	235	1	0	0	0	0	0	0	0	1	13928	581	21	5		5	SCNN1B	16	23360058	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	3882536	23360058	66994695	60	16606											
OR1A2	26189	broad.mit.edu	37	chr17	3101531	3101531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaagccttctgcacctGtggctcccacctcacagttg	8	11	7	15	0	3	0	2	0	1	0	4	0	4	0	4	1	2	3	4	1	1	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:3101531G>C	ENST00000381951.1	+	1	719	c.719G>C	c.(718-720)tGt>tCt	p.C240S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	240					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTGCACCTGTGGCTCCCAC	0.438																																						uc002fvd.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(718-720)tGt>tCt		Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.							127	123	124					17																	3101531		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101531G>C	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.719G>C	17.37:g.3101531G>C	ENSP00000371377:p.Cys240Ser						p.C240S	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			0	719	+			240					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.719G>C	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129039	0.37533	.	.	ENSG00000172150	ENST00000381951	T	0.00369	7.74	4.0	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000051	T	0.01421	0.0046	H	0.96691	3.865	0.29333	N	0.866542	D	0.89917	1.0	D	0.91635	0.999	T	0.05451	-1.0884	10	0.87932	D	0	.	8.0891	0.30790	0.0:0.1745:0.6454:0.1801	.	240	Q9Y585	OR1A2_HUMAN	S	240	ENSP00000371377:C240S	ENSP00000371377:C240S	C	+	2	0	OR1A2	3048281	1.000000	0.71417	0.972000	0.41901	0.248000	0.25809	8.536000	0.90627	1.006000	0.39211	0.543000	0.68304	TGT		0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		C	3101531	G	C	3101531	3	2	235	1	0	0	0	0	1	0	0	0	10950	1377	48	5	721	5	OR1A2	17	3101531	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		3101531	78093679	61	16607											
DLG4	1742	broad.mit.edu	37	chr17	7099833	7099833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcgtgaccgtctgacccGcattcttcagggcaatggca	8	10	11	12	3	3	3	1	3	2	0	4	3	3	3	2	2	0	3	2	2	1	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7099833G>A	ENST00000399506.2	-	10	1336	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	DLG4_ENST00000302955.6_Missense_Mutation_p.A379V|DLG4_ENST00000399510.2_Missense_Mutation_p.A425V			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	382	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGTCTGACCCGCATTCTTCAG	0.542																																						uc010vtn.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(964-966)gCg>gTg		Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.							73	71	72					17																	7099833		2101	4235	6336	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099833G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1145C>T	17.37:g.7099833G>A	ENSP00000382425:p.Ala382Val					DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A379V|DLG4_uc002get.4_Missense_Mutation_p.A425V|DLG4_uc010vto.2_Missense_Mutation_p.A422V	p.A322V	NM_001128827	NP_001122299	P78352	DLG4_HUMAN			8	1225	-			382			PDZ 3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.965C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.825725	0.90955	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.29142	1.58;1.58;1.58	4.28	4.28	0.50868	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.48822	0.1521	L	0.55834	1.745	0.80722	D	1	P;D;D;D	0.64830	0.94;0.988;0.969;0.994	P;D;P;P	0.71184	0.734;0.972;0.698;0.794	T	0.47209	-0.9135	9	0.51188	T	0.08	.	14.277	0.66187	0.0:0.0:1.0:0.0	.	422;382;379;425	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	V	382;379;425;425;322;425	ENSP00000382425:A382V;ENSP00000307471:A379V;ENSP00000382428:A425V	ENSP00000293813:A425V	A	-	2	0	DLG4	7040557	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.301000	0.78850	2.210000	0.71456	0.563000	0.77884	GCG		0.542	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		A	7099833	G	A	7099833	3	1	235	1	0	0	0	0	1	0	0	0	4557	1087	38	1	1073	1	DLG4	17	7099833	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	3998302	7099833	74095377	62	16608											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	235	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	478573	7578406	73616804	63	16609											
SFRS1	6426	broad.mit.edu	37	chr17	56083327	56083327	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccaacttccacttggAggcagtcctgaaaaagtgat	11	10	9	11	0	0	2	0	2	0	0	3	3	3	3	4	2	2	1	4	2	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:56083327A>G	ENST00000258962.4	-	3	595	c.387T>C	c.(385-387)ccT>ccC	p.P129P	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Silent_p.P129P|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Silent_p.P129P	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	129	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCCACTTGGAGGCAGTCCTG	0.388																																						uc002ivi.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(385-387)ccT>ccC		Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.							70	58	62					17																	56083327		2203	4300	6503	SO:0001819	synonymous_variant	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083327A>G		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.387T>C	17.37:g.56083327A>G						SRSF1_uc002ivj.3_Silent_p.P129P	p.P129P	NM_006924	NP_008855	Q07955	SRSF1_HUMAN			2	596	-			129			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Silent	SNP	ENST00000258962.4	37	c.387T>C	CCDS11600.1																																																																																				0.388	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		G	56083327	A	G	56083327	2	3	235	1	0	0	0	0	0	0	0	1	14165	291	11	4		4	SFRS1	17	56083327	Silent	SNP	A	TCGA-32-4208-01A-01D-1353-08	48504921	56083327	25111883	64	16610											
KCNH6	81033	broad.mit.edu	37	chr17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcagcctcaccagcGtgggcttcggcaatgtctcg	6	9	11	15	3	3	0	2	0	1	0	5	0	3	0	3	2	3	3	3	2	1	2	rs376994110		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:61613357G>A	ENST00000583023.1	+	6	1440	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	477					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTCACCAGCGTGGGCTTCGG	0.602																																						uc002jay.3																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1429-1431)Gtg>Atg		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	Ibutilide(DB00308)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	84	64	71		1429,1270	4.4	1	17		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	477/995,424/906	61613357	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613357G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1429G>A	17.37:g.61613357G>A	ENSP00000463533:p.Val477Met					KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.2_Missense_Mutation_p.V354M|KCNH6_uc010wpm.2_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	p.V477M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1509	+			477					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1429G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092733	0.36952	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98249	-4.82;-4.82	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.91196	3.185	0.46260	D	0.998955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.993;0.994	D	0.99312	1.0904	10	0.87932	D	0	.	17.0722	0.86577	0.0:0.0:1.0:0.0	.	354;477;424;477;477	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	M	477;424	ENSP00000318212:V477M;ENSP00000396900:V424M	ENSP00000318212:V477M	V	+	1	0	KCNH6	58967089	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.657000	0.98554	2.244000	0.73946	0.313000	0.20887	GTG		0.602	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		A	61613357	G	A	61613357	3	1	235	1	0	0	0	0	1	0	0	0	8036	1145	40	1	1451	1	KCNH6	17	61613357	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	5530030	61613357	19581853	65	16611											
FAM20A	54757	broad.mit.edu	37	chr17	66551780	66551780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggagtagagcccatggCggttaatacccaggtggaac	11	6	14	10	2	0	1	0	0	0	1	0	3	0	3	3	5	3	2	3	5	4	3	rs200466905		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:66551780C>T	ENST00000592554.1	-	2	1231	c.509G>A	c.(508-510)cGc>cAc	p.R170H	FAM20A_ENST00000226094.5_5'UTR|RP11-120M18.5_ENST00000589826.1_lincRNA	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	170					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAGCCCATGGCGGTTAATACC	0.562													C|||	1	0.000199681	0	0	5008	,	,		18773	0.001		0	False		,,,				2504	0					uc002jho.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(508-510)cGc>cAc		Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.							84	80	81					17																	66551780		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66551780C>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.509G>A	17.37:g.66551780C>T	ENSP00000468308:p.Arg170His					FAM20A_uc010wqp.2_Missense_Mutation_p.R32H|FAM20A_uc002jhn.3_5'UTR	p.R170H	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN			1	797	-	Breast(10;1.64e-13)		170					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.509G>A	CCDS11679.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	25.2	4.609802	0.87258	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.97	5.97	0.96955	.	0.099386	0.64402	D	0.000001	T	0.73321	0.3572	M	0.79011	2.435	0.40498	D	0.980614	D	0.57571	0.98	P	0.50231	0.635	T	0.77523	-0.2556	9	0.72032	D	0.01	-22.3925	18.201	0.89838	0.0:1.0:0.0:0.0	.	170	Q96MK3	FA20A_HUMAN	H	170	.	ENSP00000226094:R170H	R	-	2	0	FAM20A	64063375	1.000000	0.71417	0.990000	0.47175	0.659000	0.38960	5.972000	0.70448	2.837000	0.97791	0.655000	0.94253	CGC		0.562	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		T	66551780	C	T	66551780	3	4	235	1	0	0	0	0	1	0	0	0	5537	768	27	1	1156	1	FAM20A	17	66551780	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	4938423	66551780	14643430	66	16612											
DSC2	1824	broad.mit.edu	37	chr18	28654745	28654745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggataggctcatcaggatCaaccgcaacaatctccgcag	13	7	9	12	2	4	0	3	0	1	0	5	2	4	2	2	3	2	3	2	3	4	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:28654745C>G	ENST00000280904.6	-	12	2235	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	DSC2_ENST00000251081.6_Missense_Mutation_p.D598H|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATCAGGATCAACCGCAACA	0.428																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1792-1794)Gat>Cat		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							150	125	134					18																	28654745		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28654745C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1792G>C	18.37:g.28654745C>G	ENSP00000280904:p.Asp598His					DSC2_uc002kwk.4_Missense_Mutation_p.D598H	p.D598H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		11	2246	-			598			Cadherin 5.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1792G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746177	0.49151	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.78246	-1.16;-1.16	5.27	5.27	0.74061	Cadherin (2);Cadherin-like (1);	0.000000	0.33346	N	0.005020	D	0.89976	0.6871	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.981;0.99	D	0.91798	0.5449	10	0.87932	D	0	.	16.1756	0.81847	0.0:1.0:0.0:0.0	.	598;598	Q02487;Q02487-2	DSC2_HUMAN;.	H	598;598;364;611	ENSP00000251081:D598H;ENSP00000280904:D598H	ENSP00000251081:D598H	D	-	1	0	DSC2	26908743	0.997000	0.39634	0.379000	0.26080	0.098000	0.18820	4.733000	0.62036	2.614000	0.88457	0.655000	0.94253	GAT		0.428	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		G	28654745	C	G	28654745	3	3	235	1	0	0	0	0	1	0	0	0	4766	826	29	5	973	5	DSC2	18	28654745	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		28654745	49422503	67	16613											
GALNT1	2589	broad.mit.edu	37	chr18	33234759	33234759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagagaggacttcctgctGgagatggtgagtgacatttt	10	11	15	5	0	0	4	0	2	0	2	1	8	1	6	1	4	1	1	1	4	0	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:33234759G>A	ENST00000269195.5	+	1	236	c.133G>A	c.(133-135)Gga>Aga	p.G45R	GALNT1_ENST00000591081.1_Missense_Mutation_p.G45R|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	45					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACTTCCTGCTGGAGATGGTGA	0.338																																						uc010dmu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(133-135)Gga>Aga		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.							107	102	104					18																	33234759		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33234759G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.133G>A	18.37:g.33234759G>A	ENSP00000269195:p.Gly45Arg					GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.G45R|GALNT1_uc002kzb.3_Missense_Mutation_p.G45R	p.G45R	NM_020474	NP_065207	Q10472	GALT1_HUMAN			1	186	+			45					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.133G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988756	0.35131	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.53640	0.61	5.62	5.62	0.85841	.	0.309606	0.36268	N	0.002696	T	0.35885	0.0947	L	0.31578	0.945	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17992	-1.0351	10	0.09590	T	0.72	.	17.1412	0.86754	0.0:0.0:1.0:0.0	.	45	Q10472	GALT1_HUMAN	R	45	ENSP00000269195:G45R	ENSP00000269195:G45R	G	+	1	0	GALNT1	31488757	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.990000	0.56965	2.633000	0.89246	0.655000	0.94253	GGA		0.338	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		A	33234759	G	A	33234759	3	1	235	1	0	0	0	0	1	0	0	0	6207	1349	47	3	135	3	GALNT1	18	33234759	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	4580014	33234759	44842489	68	16614											
APC2	10297	broad.mit.edu	37	chr19	1468647	1468647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacagaagaccacgcccGgggtgccagctgtgctccgg	8	4	14	15	3	0	2	0	0	0	2	1	2	1	2	4	3	3	3	4	3	1	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:1468647G>A	ENST00000535453.1	+	14	7060	c.5347G>A	c.(5347-5349)Ggg>Agg	p.G1783R	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1783R|APC2_ENST00000238483.4_Missense_Mutation_p.G1509R			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCACGCCCGGGGTGCCAGC	0.721																																						uc002lsr.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(5347-5349)Ggg>Agg		Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.							12	15	14					19																	1468647		2142	4237	6379	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1468647G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.5347G>A	19.37:g.1468647G>A	ENSP00000442954:p.Gly1783Arg					APC2_uc002lss.1_Missense_Mutation_p.G1365R|APC2_uc002lst.1_Missense_Mutation_p.G1783R|APC2_uc002lsu.1_Missense_Mutation_p.G1782R|C19orf25_uc010xgn.1_Intron	p.G1783R	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	5555	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1783			Pro-rich.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.5347G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	g	5.318	0.243939	0.10077	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92495	-3.05;-2.7;-3.05	3.95	-3.1	0.05315	.	0.671285	0.15433	N	0.262611	T	0.81612	0.4859	N	0.16478	0.41	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.08055	0.003;0.001	T	0.67760	-0.5587	10	0.36615	T	0.2	-15.6266	9.9221	0.41470	0.666:0.0:0.334:0.0	.	1782;1783	O95996-3;O95996	.;APC2_HUMAN	R	1783;1509;1783	ENSP00000233607:G1783R;ENSP00000238483:G1509R;ENSP00000442954:G1783R	ENSP00000233607:G1783R	G	+	1	0	APC2	1419647	0.084000	0.21492	0.000000	0.03702	0.007000	0.05969	1.123000	0.31308	-0.374000	0.07967	-1.326000	0.01283	GGG		0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		A	1468647	G	A	1468647	3	1	235	1	0	0	0	0	1	0	0	0	764	1116	39	2	5401	2	APC2	19	1468647	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		1468647	57660336	69	16615											
CDC37	11140	broad.mit.edu	37	chr19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccacctttaggctcttggCcagctccaggataaattgca	9	11	9	12	0	1	0	0	0	1	0	3	1	3	1	4	3	2	3	4	3	3	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:10505756C>T	ENST00000222005.2	-	5	720	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	223					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592																																						uc002mof.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(667-669)Gcc>Acc		Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.							76	72	73					19																	10505756		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505756C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.667G>A	19.37:g.10505756C>T	ENSP00000222005:p.Ala223Thr						p.A223T	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	783	-			223					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.667G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254584	0.80135	.	.	ENSG00000105401	ENST00000222005	T	0.54279	0.58	3.94	3.94	0.45596	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.77616	2.38	0.80722	D	1	P;P	0.43938	0.822;0.822	B;B	0.43331	0.416;0.416	T	0.67991	-0.5527	10	0.87932	D	0	.	13.8297	0.63373	0.0:1.0:0.0:0.0	.	223;223	Q6FG59;Q16543	.;CDC37_HUMAN	T	223	ENSP00000222005:A223T	ENSP00000222005:A223T	A	-	1	0	CDC37	10366756	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.996000	0.76263	1.913000	0.55393	0.561000	0.74099	GCC		0.592	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		T	10505756	C	T	10505756	3	4	235	1	0	0	0	0	1	0	0	0	3068	739	26	3	485	3	CDC37	19	10505756	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	9037109	10505756	48623227	70	16616											
FAM129C	199786	broad.mit.edu	37	chr19	17649991	17649991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggcccctgctgcccggGccttcctggacgccgtccga	3	6	13	19	4	0	0	0	0	0	0	2	2	2	1	8	3	2	1	8	3	0	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:17649991G>A	ENST00000335393.4	+	7	859	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	FAM129C_ENST00000595684.1_Missense_Mutation_p.A241T|FAM129C_ENST00000352727.3_Missense_Mutation_p.A241T|FAM129C_ENST00000599164.1_Missense_Mutation_p.A210T|FAM129C_ENST00000332386.5_Missense_Mutation_p.A241T|FAM129C_ENST00000601861.1_Missense_Mutation_p.A210T|FAM129C_ENST00000300971.2_Missense_Mutation_p.A241T|FAM129C_ENST00000600871.1_Missense_Mutation_p.A187T|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.A210T	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	241										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTGCCCGGGCCTTCCTGGA	0.697																																						uc021uqj.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(721-723)Gcc>Acc		Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.							14	14	14					19																	17649991		2193	4288	6481	SO:0001583	missense	199786							g.chr19:17649991G>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.721G>A	19.37:g.17649991G>A	ENSP00000335040:p.Ala241Thr					FAM129C_uc021uqi.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.4_5'UTR|FAM129C_uc010xpu.2_5'UTR|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_5'UTR|FAM129C_uc002nhb.3_5'Flank	p.A241T	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			6	859	+			241					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.721G>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.733953	0.89482	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.53206	0.95;0.93;0.69;0.63	4.37	4.37	0.52481	.	0.131175	0.34362	N	0.004036	T	0.63355	0.2504	M	0.72118	2.19	0.80722	D	1	D;D	0.65815	0.987;0.995	P;P	0.61940	0.854;0.896	T	0.68187	-0.5475	10	0.87932	D	0	-25.9928	12.4055	0.55436	0.0:0.0:1.0:0.0	.	241;241	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	T	241;241;241;241;187	ENSP00000335040:A241T;ENSP00000333447:A241T;ENSP00000341067:A241T;ENSP00000300971:A241T	ENSP00000300971:A241T	A	+	1	0	FAM129C	17510991	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	3.306000	0.51881	2.004000	0.58718	0.486000	0.48141	GCC		0.697	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		A	17649991	G	A	17649991	3	1	235	1	0	0	0	0	1	0	0	0	5438	1203	42	3	747	3	FAM129C	19	17649991	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	7144235	17649991	41478992	71	16617											
CD177	57126	broad.mit.edu	37	chr19	43865711	43865711	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccactcattgttatgatgGgtacattcatctctcaggag	9	13	9	10	1	4	1	3	1	1	0	5	2	4	2	1	2	1	2	1	2	2	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:43865711G>T	ENST00000607109.1	-	0	300				CD177_ENST00000607517.1_RNA|CD177_ENST00000378009.4_RNA																							TGTTATGATGGGTACATTCAT	0.622																																						uc002owi.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(1057-1059)gGg>gTg		Homo sapiens CD177 molecule (CD177), mRNA.							8	10	9					19																	43865711		1898	4065	5963			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43865711G>T																													19.37:g.43865711G>T						CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	p.G353V	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			8	1100	+		Prostate(69;0.00682)	354			UPAR/Ly6 2.			Missense_Mutation	SNP	ENST00000607109.1	37	c.1058G>T																																																																																					0.622	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			T	43865711	G	T	43865711	1	4	235	0	1	0	0	0	0	0	0	0	2971	1232	43	5		5	CD177	19	43865711	RNA	SNP	G	TCGA-32-4208-01A-01D-1353-08	26215720	43865711	15263272	72	16618											
CRYBA4	1413	broad.mit.edu	37	chr22	27018564	27018564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaggggccacaatgAccctgcaatgcacaaagtca	14	5	11	11	0	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	4	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:27018564A>G	ENST00000354760.3	+	2	39	c.4A>G	c.(4-6)Acc>Gcc	p.T2A	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	2	N-terminal arm.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCACAATGACCCTGCAATG	0.562																																						uc003acz.4																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(4-6)Acc>Gcc		Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.							67	65	66					22																	27018564		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27018564A>G		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.4A>G	22.37:g.27018564A>G	ENSP00000346805:p.Thr2Ala						p.T2A	NM_001886	NP_001877	P53673	CRBA4_HUMAN			1	39	+			2			N-terminal arm.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.4A>G	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854388	0.32791	.	.	ENSG00000196431	ENST00000354760	T	0.76186	-1.0	4.22	-5.91	0.02269	.	0.624535	0.14318	N	0.327201	T	0.59528	0.2200	L	0.55990	1.75	0.36203	D	0.850844	B	0.02656	0.0	B	0.04013	0.001	T	0.18999	-1.0319	10	0.40728	T	0.16	.	5.3144	0.15847	0.3817:0.0:0.3815:0.2368	.	2	P53673	CRBA4_HUMAN	A	2	ENSP00000346805:T2A	ENSP00000346805:T2A	T	+	1	0	CRYBA4	25348564	0.119000	0.22226	0.020000	0.16555	0.635000	0.38103	-0.579000	0.05834	-1.118000	0.02961	-0.263000	0.10527	ACC		0.562	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		G	27018564	A	G	27018564	3	3	235	1	0	0	0	0	1	0	0	0	3909	275	10	4	6	4	CRYBA4	22	27018564	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		27018564	24286002	73	16619											
APOBEC3F	200316	broad.mit.edu	37	chr22	39436982	39436982	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgaagcctcacttcaGgtaccgctgcccgctctacc	9	8	9	15	2	3	1	2	1	1	0	3	2	3	2	4	2	4	3	4	2	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:39436982G>A	ENST00000308521.5	+	1	374	c.17G>A	c.(16-18)aGa>aAa	p.R6K	APOBEC3F_ENST00000491387.1_Intron|APOBEC3G_ENST00000452957.2_Splice_Site_p.R6K|APOBEC3F_ENST00000381565.2_Splice_Site_p.R6K	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	6					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTCACTTCAGGTACCGCTGC	0.647																																						uc021wpr.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.e1+1		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.							69	55	60					22																	39436982		2202	4292	6494	SO:0001630	splice_region_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39436982G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.17+1G>A	22.37:g.39436982G>A						APOBEC3F_uc003awv.3_Splice_Site_p.R6_splice|APOBEC3F_uc011aog.1_Splice_Site_p.R6_splice|APOBEC3F_uc003aww.3_Splice_Site_p.R6_splice	p.R6_splice	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			1	310	+	Melanoma(58;0.04)		6					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.17_splice	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.775535	0.49786	.	.	ENSG00000128394;ENSG00000128394;ENSG00000239713	ENST00000308521;ENST00000381565;ENST00000452957	T;T;T	0.71579	-0.41;1.35;-0.58	0.953	0.953	0.19590	.	.	.	.	.	T	0.82222	0.4990	M	0.87269	2.87	0.09310	N	1	D;D	0.57257	0.979;0.975	D;P	0.74023	0.982;0.632	T	0.67480	-0.5660	9	0.72032	D	0.01	.	5.2454	0.15494	0.0:0.0:1.0:0.0	.	6;6	Q8IUX4;Q6ICH3	ABC3F_HUMAN;.	K	6	ENSP00000309749:R6K;ENSP00000370977:R6K;ENSP00000413376:R6K	ENSP00000309749:R6K	R	+	2	0	APOBEC3G;APOBEC3F	37766928	0.182000	0.23173	0.074000	0.20217	0.025000	0.11179	1.141000	0.31528	0.824000	0.34613	0.462000	0.41574	AGA		0.647	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	Missense_Mutation	A	39436982	G	A	39436982	5	1	235	1	0	0	0	0	0	0	1	0	793	1014	35	3	19	3	APOBEC3F	22	39436982	Splice_Site	SNP	G	TCGA-32-4208-01A-01D-1353-08	12418418	39436982	11867584	74	16620											
CLCN4	1183	broad.mit.edu	37	chrX	10181901	10181901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaccctttccttgacgTgaaggacgagtttactcacc	8	12	10	11	2	1	2	1	2	0	0	2	4	2	3	3	2	2	2	3	2	3	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:10181901T>C	ENST00000380833.4	+	11	2148	c.1757T>C	c.(1756-1758)gTg>gCg	p.V586A	CLCN4_ENST00000421085.2_Missense_Mutation_p.V492A|AC003666.1_ENST00000410201.1_RNA|CLCN4_ENST00000380829.1_Missense_Mutation_p.V555A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	586					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTTGACGTGAAGGACGAG	0.597																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.4																			0		p.V586M(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1756-1758)gTg>gCg		Homo sapiens chloride channel 4 (CLCN4), mRNA.							113	74	88					X																	10181901		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10181901T>C	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1757T>C	X.37:g.10181901T>C	ENSP00000370213:p.Val586Ala					CLCN4_uc011mid.2_Missense_Mutation_p.V492A	p.V586A	NM_001830	NP_001821	P51793	CLCN4_HUMAN			10	2187	+			586					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1757T>C	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	T	0.065	-1.215287	0.01542	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.87412	-2.25;-2.25;-2.25	5.28	5.28	0.74379	Chloride channel, core (2);	0.178514	0.47852	D	0.000206	T	0.72203	0.3431	N	0.05280	-0.08	0.53688	D	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.67604	-0.5628	10	0.08381	T	0.77	-36.1607	14.3586	0.66754	0.0:0.0:0.0:1.0	.	586	P51793	CLCN4_HUMAN	A	586;555;492	ENSP00000370213:V586A;ENSP00000370209:V555A;ENSP00000405754:V492A	ENSP00000370209:V555A	V	+	2	0	CLCN4	10141901	1.000000	0.71417	0.992000	0.48379	0.059000	0.15707	2.967000	0.49216	1.771000	0.52183	0.486000	0.48141	GTG		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			C	10181901	T	C	10181901	3	2	235	1	0	0	0	0	1	0	0	0	3465	1696	59	4	1791	4	CLCN4	23	10181901	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		10181901	145088659	75	16621											
NHS	4810	broad.mit.edu	37	chrX	17743937	17743937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctctcaacatcttcacAgcccccagcacaaattaagt	12	9	4	16	0	3	0	2	0	2	0	4	0	3	0	3	0	4	2	3	0	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:17743937A>T	ENST00000380060.3	+	6	1986	c.1648A>T	c.(1648-1650)Agc>Tgc	p.S550C	NHS_ENST00000398097.3_Missense_Mutation_p.S394C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	571					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACATCTTCACAGCCCCCAGCA	0.557																																						uc011mix.2																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1711-1713)Agc>Tgc		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							68	57	61					X																	17743937		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743937A>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1648A>T	X.37:g.17743937A>T	ENSP00000369400:p.Ser550Cys					NHS_uc004cxx.3_Missense_Mutation_p.S550C|NHS_uc004cxy.3_Missense_Mutation_p.S394C|NHS_uc004cxz.3_Missense_Mutation_p.S373C|NHS_uc004cya.3_Missense_Mutation_p.S273C	p.S571C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN			6	2049	+	Hepatocellular(33;0.183)		550					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1711A>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461367	0.63513	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.53857	0.6;0.62	5.86	5.86	0.93980	.	0.076852	0.85682	D	0.000000	T	0.73434	0.3586	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.77125	-0.2703	10	0.72032	D	0.01	-4.8004	15.2047	0.73169	1.0:0.0:0.0:0.0	.	571;392;394;550	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	550;394;392	ENSP00000369400:S550C;ENSP00000381170:S394C	ENSP00000369397:S392C	S	+	1	0	NHS	17653858	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	1.974000	0.57490	0.486000	0.48141	AGC		0.557	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		T	17743937	A	T	17743937	3	4	235	1	0	0	0	0	1	0	0	0	10411	188	7	5	1775	5	NHS	23	17743937	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	7562036	17743937	137526623	76	16622											
SMC1A	8243	broad.mit.edu	37	chrX	53409449	53409449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgctattgcgggacAgggccttatagatctcatca	9	10	12	10	1	2	1	2	0	1	1	3	2	2	2	1	3	2	2	1	3	3	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:53409449A>G	ENST00000322213.4	-	21	3390	c.3263T>C	c.(3262-3264)cTg>cCg	p.L1088P	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1088					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTGCGGGACAGGGCCTTATA	0.527																																						uc004dsg.3																			0		p.L1088L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(3262-3264)cTg>cCg		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							73	58	63					X																	53409449		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53409449A>G	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3263T>C	X.37:g.53409449A>G	ENSP00000323421:p.Leu1088Pro					SMC1A_uc011moe.2_Missense_Mutation_p.L1066P	p.L1088P	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			20	3332	-			1088					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.3263T>C	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967589	0.74131	.	.	ENSG00000072501	ENST00000322213	D	0.87103	-2.21	5.45	5.45	0.79879	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000002	D	0.95118	0.8418	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96207	0.9150	10	0.87932	D	0	.	13.6717	0.62430	1.0:0.0:0.0:0.0	.	1088	Q14683	SMC1A_HUMAN	P	1088	ENSP00000323421:L1088P	ENSP00000323421:L1088P	L	-	2	0	SMC1A	53426174	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.171000	0.94802	1.940000	0.56252	0.486000	0.48141	CTG		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		G	53409449	A	G	53409449	3	3	235	1	0	0	0	0	1	0	0	0	14781	188	7	4	458	4	SMC1A	23	53409449	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	35665512	53409449	101861111	77	16623											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgcttcttaggaagtcGatctcttaattccatgatgg	8	16	9	8	1	2	1	0	1	2	0	5	3	3	2	1	2	2	2	1	2	3	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)|p.R907*(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.R907*(2)|p.?(1)	lung(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2719-2721)Cga>Tga		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						189	173	179					X																	76938029		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938029G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2719C>T	X.37:g.76938029G>A	ENSP00000362441:p.Arg907*					ATRX_uc004ecq.4_Nonsense_Mutation_p.R869*|ATRX_uc004eco.4_Nonsense_Mutation_p.R692*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R839*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R878*|ATRX_uc010nly.1_Nonsense_Mutation_p.R852*	p.R907*	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	2951	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2719C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.819821	0.98507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	0.503	0.16940	.	2.134250	0.02681	N	0.109696	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	10.841	4.5137	0.11924	0.0688:0.1999:0.2703:0.461	.	.	.	.	X	907;869;834	.	ENSP00000362441:R907X	R	-	1	2	ATRX	76824685	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-0.689000	0.05144	-0.111000	0.12001	0.513000	0.50165	CGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76938029	G	A	76938029	4	1	235	1	0	0	0	0	0	1	0	0	1208	1066	37	2	4867	2	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	23528580	76938029	78332531	78	16624											
PGK1	5230	broad.mit.edu	37	chrX	77372859	77372860	+	Missense_Mutation	DNP	GC	GC	CT																															ttccgagcttcactttccaaGctaggggatgtctatgtcaa																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:77372859_77372860GC>CT	ENST00000373316.4	+	5	635_636	c.468_469GC>CT	c.(466-471)aaGCta>aaCTta	p.K156N	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.K128N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	156					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CACTTTCCAAGCTAGGGGATGT	0.426																																						uc004ecz.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(466-471)aagcta>aaCTta		Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.																																				SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77372859_77372860GC>CT	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	Exception_encountered	X.37:g.77372859_77372860delinsCT	ENSP00000362413:p.Lys156Asn					PGK1_uc011mqq.2_Missense_Mutation_p.K128N	p.K156N	NM_000291	NP_000282	P00558	PGK1_HUMAN			4	640_641	+			156					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	DNP	ENST00000373316.4	37	c.468_469GC>CT	CCDS14438.1																																																																																				0.426	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			CT	77372860	GC	CT	77372859	3	2	235	1	0	0	0	0	1	0	0	0	11790	962	34	5	486	5	PGK1	23	77372859	Missense_Mutation	DNP	GC	TCGA-32-4208-01A-01D-1353-08	434830	77372859	77897701	79	16625											
CXorf57	55086	broad.mit.edu	37	chrX	105882786	105882786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgacagctataagtgaaGtcaggaaggagattgaagac	15	9	12	5	0	2	5	1	3	1	2	2	7	2	6	0	2	1	1	0	2	5	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882786G>C	ENST00000372548.4	+	9	1712	c.1603G>C	c.(1603-1605)Gtc>Ctc	p.V535L	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	535							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATAAGTGAAGTCAGGAAGGA	0.363																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1603-1605)Gtc>Ctc		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							116	106	110					X																	105882786		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882786G>C	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1603G>C	X.37:g.105882786G>C	ENSP00000361628:p.Val535Leu					CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	p.V535L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			8	1754	+			535					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1603G>C	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849828	0.17034	.	.	ENSG00000147231	ENST00000372548	T	0.55052	0.54	5.19	2.17	0.27698	.	0.161196	0.42294	N	0.000736	T	0.27169	0.0666	N	0.25144	0.715	0.80722	D	1	B	0.27625	0.183	B	0.24974	0.057	T	0.05007	-1.0912	10	0.08381	T	0.77	-7.0604	2.5395	0.04722	0.0988:0.1368:0.4283:0.3361	.	535	Q6NSI4	CX057_HUMAN	L	535	ENSP00000361628:V535L	ENSP00000361628:V535L	V	+	1	0	CXorf57	105769442	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	0.508000	0.22692	0.622000	0.30249	0.538000	0.68166	GTC		0.363	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		C	105882786	G	C	105882786	3	2	235	1	0	0	0	0	1	0	0	0	4113	1029	36	5	1637	5	CXorf57	23	105882786	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	28509927	105882786	49387774	80	16626			1	42		2	2	12	G		2.913702e-05
CXorf57	55086	broad.mit.edu	37	chrX	105882797	105882797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataagtgaagtcaggaaggaGattgaagacttgcagtatag	16	9	13	3	0	1	4	1	2	0	2	1	6	1	5	0	2	1	2	0	2	6	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882797G>C	ENST00000372548.4	+	9	1723	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	538							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGGAAGGAGATTGAAGACT	0.373																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1612-1614)gaG>gaC		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							126	115	119					X																	105882797		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882797G>C	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1614G>C	X.37:g.105882797G>C	ENSP00000361628:p.Glu538Asp					CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	p.E538D	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			8	1765	+			538					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1614G>C	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523302	0.44866	.	.	ENSG00000147231	ENST00000372548	T	0.67345	-0.26	5.19	4.33	0.51752	.	0.323197	0.31636	N	0.007306	T	0.61223	0.2330	L	0.55481	1.735	0.80722	D	1	P	0.50272	0.933	B	0.44278	0.445	T	0.61724	-0.7004	10	0.46703	T	0.11	-0.806	8.0037	0.30313	0.0903:0.1574:0.7523:0.0	.	538	Q6NSI4	CX057_HUMAN	D	538	ENSP00000361628:E538D	ENSP00000361628:E538D	E	+	3	2	CXorf57	105769453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.624000	0.46444	1.256000	0.44068	0.538000	0.68166	GAG		0.373	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		C	105882797	G	C	105882797	3	2	235	1	0	0	0	0	1	0	0	0	4113	933	33	5	1648	5	CXorf57	23	105882797	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	11	105882797	49387763	81	16627			1	42		2	2	12	G		2.913702e-05
SLITRK2	84631	broad.mit.edu	37	chrX	144906297	144906297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttacctaaaaggcagtttgCcccttcctatgaatctcgac	10	12	6	13	1	1	1	0	1	1	0	3	2	2	1	4	1	2	2	4	1	5	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:144906297C>T	ENST00000370490.1	+	1	6609	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.A785V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A785V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A785V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A785V|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	785					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGTTTGCCCCTTCCTAT	0.453																																						uc022cfn.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2353-2355)gCc>gTc		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.							138	127	131					X																	144906297		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906297C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2354C>T	X.37:g.144906297C>T	ENSP00000359521:p.Ala785Val					SLITRK2_uc004fcd.3_Missense_Mutation_p.A785V|SLITRK2_uc010nsp.3_Missense_Mutation_p.A785V|SLITRK2_uc010nso.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.2_Missense_Mutation_p.A785V|SLITRK2_uc011mws.2_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.2_Missense_Mutation_p.A785V|CXorf1_uc004fch.3_5'Flank	p.A785V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	2354	+	Acute lymphoblastic leukemia(192;6.56e-05)		785					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2354C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792042	0.31685	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.38	5.38	0.77491	.	0.404245	0.25830	N	0.028026	T	0.37598	0.1009	L	0.40543	1.245	0.29755	N	0.836018	B	0.06786	0.001	B	0.09377	0.004	T	0.31613	-0.9937	10	0.46703	T	0.11	-9.5644	9.194	0.37217	0.0:0.8999:0.0:0.1001	.	785	Q9H156	SLIK2_HUMAN	V	785	ENSP00000411681:A785V;ENSP00000359521:A785V;ENSP00000397015:A785V;ENSP00000407347:A785V;ENSP00000412010:A785V	ENSP00000359521:A785V	A	+	2	0	SLITRK2	144713989	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	3.151000	0.50670	2.251000	0.74343	0.600000	0.82982	GCC		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144906297	C	T	144906297	3	4	235	1	0	0	0	0	1	0	0	0	14743	739	26	3	2356	3	SLITRK2	23	144906297	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	39023500	144906297	10364263	82	16628											
DNAJC11	55735	broad.mit.edu	37	chr1	6727822	6727822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctctctctgcagccGctcaaactcctctcgaattt	6	15	4	16	2	5	0	1	0	4	0	10	1	6	0	2	0	3	2	2	0	2	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:6727822G>A	ENST00000377577.5	-	4	448	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DNAJC11_ENST00000542246.1_Missense_Mutation_p.R71W|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R19W|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R71W|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R109W	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	109						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGCAGCCGCTCAAACTCC	0.522																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(325-327)Cgg>Tgg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							65	61	62					1																	6727822		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727822G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.325C>T	1.37:g.6727822G>A	ENSP00000366800:p.Arg109Trp					DNAJC11_uc001aog.2_Missense_Mutation_p.R109W|DNAJC11_uc010nzu.1_Missense_Mutation_p.R19W	p.R109W	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	3	431	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	109					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.325C>T	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976601	0.74360	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.37235	2.18;1.62;1.21;2.19;1.96;1.59;2.23	5.72	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.962;0.988;0.98	T	0.67910	-0.5548	10	0.87932	D	0	-13.6569	12.6918	0.56978	0.0:0.0:0.6906:0.3094	.	19;85;109;109	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	W	109;85;71;109;71;19;109	ENSP00000366800:R109W;ENSP00000415871:R85W;ENSP00000326304:R71W;ENSP00000294401:R109W;ENSP00000444020:R71W;ENSP00000366796:R19W;ENSP00000410194:R109W	ENSP00000294401:R109W	R	-	1	2	DNAJC11	6650409	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.344000	0.44010	1.351000	0.45789	0.655000	0.94253	CGG		0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		A	6727822	G	A	6727822	3	1	236	1	0	0	0	0	1	0	0	0	4630	1086	38	1	1406	1	DNAJC11	1	6727822	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		6727822	242522799	1	16629											
TDRKH	11022	broad.mit.edu	37	chr1	151755433	151755433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgttgcactggctgggatCccaaggcccagggctatttt	7	11	12	11	0	0	0	0	0	0	0	1	1	1	1	2	4	1	4	2	4	2	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:151755433C>T	ENST00000368822.1	-	2	699	c.66G>A	c.(64-66)ggG>ggA	p.G22G	TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Silent_p.G22G|TDRKH_ENST00000368827.6_Silent_p.G22G|TDRKH_ENST00000368823.1_Silent_p.G22G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Silent_p.G22G|TDRKH_ENST00000368824.3_Silent_p.G22G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	22					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCTGGGATCCCAAGGCCCA	0.463																																						uc009wnb.1																			0		p.G22V(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(64-66)ggG>ggA		Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.							108	111	110					1																	151755433		1861	4092	5953	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151755433C>T	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.66G>A	1.37:g.151755433C>T						TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.G22G|TDRKH_uc001ezc.4_Silent_p.G22G|TDRKH_uc001eza.4_Silent_p.G22G|TDRKH_uc001ezd.4_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	p.G22G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	248	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		22					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.66G>A	CCDS41394.1																																																																																				0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		T	151755433	C	T	151755433	2	4	236	1	0	0	0	0	0	0	0	1	15734	842	30	3		3	TDRKH	1	151755433	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08	145027611	151755433	97495188	2	16630											
CRTC2	200186	broad.mit.edu	37	chr1	153921628	153921628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcattggccggtggtaaGactgttgcccatgcccactg	7	10	11	13	1	1	1	1	0	0	1	1	1	1	1	3	3	2	2	3	3	1	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:153921628G>A	ENST00000368633.1	-	12	1764	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S226F|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	546					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGGTGGTAAGACTGTTGCCC	0.597																																						uc021pab.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1636-1638)tCt>tTt		Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.							98	82	87					1																	153921628		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153921628G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1637C>T	1.37:g.153921628G>A	ENSP00000357622:p.Ser546Phe					DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.S82F	p.S546F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1796	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		546					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1637C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	g	9.546	1.114743	0.20795	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.44881	0.91;2.74	4.67	3.75	0.43078	.	1.442570	0.04068	N	0.307501	T	0.13927	0.0337	N	0.24115	0.695	0.20975	N	0.999812	B;P	0.50943	0.063;0.94	B;P	0.44732	0.023;0.459	T	0.07214	-1.0784	10	0.09590	T	0.72	7.0E-4	8.3685	0.32402	0.1068:0.0:0.8932:0.0	.	546;226	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	F	226;546	ENSP00000357619:S226F;ENSP00000357622:S546F	ENSP00000357619:S226F	S	-	2	0	CRTC2	152188252	0.677000	0.27577	0.933000	0.37362	0.932000	0.56968	2.472000	0.45136	1.192000	0.43071	0.450000	0.29827	TCT		0.597	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153921628	G	A	153921628	3	1	236	1	0	0	0	0	1	0	0	0	3900	942	33	3	456	3	CRTC2	1	153921628	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	2166195	153921628	95328993	3	16631											
OR10J3	441911	broad.mit.edu	37	chr1	159283999	159283999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatgccaaggccaatccCcagtgatccagaggccagtt	10	6	11	14	0	0	2	0	1	0	1	2	2	2	2	7	3	1	1	7	3	2	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:159283999C>T	ENST00000332217.5	-	1	450	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAATCCCCAGTGATCCA	0.507																																						uc010piu.2																			0		p.G151G(1)|p.L150M(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(451-453)Ggg>Agg		Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.							69	63	65					1																	159283999		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283999C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.451G>A	1.37:g.159283999C>T	ENSP00000331789:p.Gly151Arg						p.G151R	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			0	451	-	all_hematologic(112;0.0429)		151						Missense_Mutation	SNP	ENST00000332217.5	37	c.451G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276740	0.23307	.	.	ENSG00000196266	ENST00000332217	T	0.38077	1.16	5.03	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17109	0.0411	L	0.48362	1.52	0.30116	N	0.806107	B	0.21821	0.061	B	0.31191	0.125	T	0.06409	-1.0828	9	0.33940	T	0.23	.	7.9524	0.30023	0.0:0.8198:0.0:0.1802	.	151	Q5JRS4	O10J3_HUMAN	R	151	ENSP00000331789:G151R	ENSP00000331789:G151R	G	-	1	0	OR10J3	157550623	0.000000	0.05858	0.998000	0.56505	0.645000	0.38454	0.077000	0.14738	2.589000	0.87451	0.561000	0.74099	GGG		0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			T	159283999	C	T	159283999	3	4	236	1	0	0	0	0	1	0	0	0	10911	623	22	3	540	3	OR10J3	1	159283999	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	5362371	159283999	89966622	4	16632											
POU2F1	5451	broad.mit.edu	37	chr1	167358969	167358969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttgccaagaccttcaaaCaaagacgaatcaaacttgga	17	8	7	9	1	2	2	2	0	0	2	2	4	2	3	2	1	3	1	2	1	5	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:167358969C>G	ENST00000541643.3	+	10	1051	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.Q297E|POU2F1_ENST00000367862.5_Missense_Mutation_p.Q309E|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.Q257E|POU2F1_ENST00000367866.2_Missense_Mutation_p.Q320E			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	297	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GACCTTCAAACAAAGACGAAT	0.483																																						uc001gec.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(889-891)Caa>Gaa		Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.							103	92	96					1																	167358969		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167358969C>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.889C>G	1.37:g.167358969C>G	ENSP00000441285:p.Gln297Glu					POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.Q320E|POU2F1_uc010plh.2_Missense_Mutation_p.Q257E|POU2F1_uc001ged.3_Missense_Mutation_p.Q295E|POU2F1_uc001gef.3_Missense_Mutation_p.Q309E|POU2F1_uc001geg.3_Missense_Mutation_p.Q195E	p.Q297E	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN			9	1128	+			297			POU-specific.		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.889C>G		.	.	.	.	.	.	.	.	.	.	C	22.9	4.353264	0.82132	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.88	5.88	0.94601	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	L	0.47016	1.485	0.80722	D	1	P;P;P;P;P	0.51147	0.847;0.942;0.815;0.815;0.847	P;P;P;P;P	0.62184	0.858;0.899;0.778;0.841;0.858	D	0.87058	0.2151	10	0.87932	D	0	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	257;297;309;295;297	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	E	320;257;295;297;297;309;205	ENSP00000356840:Q320E;ENSP00000401217:Q257E;ENSP00000356839:Q295E;ENSP00000414660:Q297E;ENSP00000441285:Q297E;ENSP00000356836:Q309E;ENSP00000415993:Q205E	ENSP00000356836:Q309E	Q	+	1	0	POU2F1	165625593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.792000	0.96026	0.557000	0.71058	CAA		0.483	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		G	167358969	C	G	167358969	3	3	236	1	0	0	0	0	1	0	0	0	12271	479	17	5	919	5	POU2F1	1	167358969	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	8074970	167358969	81891652	5	16633											
C1orf26	54823	broad.mit.edu	37	chr1	185143825	185143825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttgttcagagagagaaGatgaaagaactcaagaaagg	18	8	11	4	0	2	6	2	1	0	5	2	8	2	6	0	1	2	1	0	1	6	3	rs146489629	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:185143825G>C	ENST00000367500.4	+	5	711	c.546G>C	c.(544-546)aaG>aaC	p.K182N	SWT1_ENST00000367501.3_Missense_Mutation_p.K182N	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	182										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGAGAGAAGATGAAAGAAC	0.353																																						uc001grg.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(544-546)aaG>aaC		Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.							38	40	40					1																	185143825		2199	4300	6499	SO:0001583	missense	54823							g.chr1:185143825G>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.546G>C	1.37:g.185143825G>C	ENSP00000356470:p.Lys182Asn					SWT1_uc001grh.4_Missense_Mutation_p.K182N	p.K182N	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN			4	660	+			182					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.546G>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409133	0.25378	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.25250	1.81;1.81	5.56	1.55	0.23275	.	0.287831	0.29587	N	0.011739	T	0.21307	0.0513	M	0.63843	1.955	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.27839	-1.0062	10	0.72032	D	0.01	.	2.4955	0.04621	0.1654:0.1492:0.5314:0.154	.	182	Q5T5J6	SWT1_HUMAN	N	182	ENSP00000356471:K182N;ENSP00000356470:K182N	ENSP00000356470:K182N	K	+	3	2	SWT1	183410448	0.993000	0.37304	0.002000	0.10522	0.642000	0.38348	0.944000	0.29043	0.292000	0.22492	0.455000	0.32223	AAG		0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		C	185143825	G	C	185143825	3	2	236	1	0	0	0	0	1	0	0	0	2035	933	33	5	560	5	C1orf26	1	185143825	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	17784856	185143825	64106796	6	16634											
CFH	3075	broad.mit.edu	37	chr1	196694295	196694295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgtacacttagttcctGatcgcaagaaagaccagtat	14	11	8	8	1	0	4	0	1	0	3	2	4	1	4	2	0	1	4	2	0	6	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:196694295G>A	ENST00000367429.4	+	12	1981	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	581	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTAGTTCCTGATCGCAAGAA	0.343																																						uc001gtj.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1741-1743)Gat>Aat		Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							72	63	66					1																	196694295		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196694295G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1741G>A	1.37:g.196694295G>A	ENSP00000356399:p.Asp581Asn					CFH_uc021pgt.1_Intron	p.D581N	NM_000186	NP_000177	P08603	CFAH_HUMAN			11	1981	+			581			Sushi 10.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1741G>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697290	0.30142	.	.	ENSG00000000971	ENST00000367429	T	0.65364	-0.15	5.74	-11.5	0.00074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29061	0.0722	N	0.12746	0.255	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.12016	-1.0564	9	0.23891	T	0.37	.	1.4946	0.02464	0.309:0.2833:0.0844:0.3232	.	581	P08603	CFAH_HUMAN	N	581	ENSP00000356399:D581N	ENSP00000356399:D581N	D	+	1	0	CFH	194960918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.008000	0.00315	-3.470000	0.00157	-0.145000	0.13849	GAT		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196694295	G	A	196694295	3	1	236	1	0	0	0	0	1	0	0	0	3283	1290	45	3	1805	3	CFH	1	196694295	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	11550470	196694295	52556326	7	16635											
HEATR5B	54497	broad.mit.edu	37	chr2	37295836	37295836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttacctacggctttcaTttgttttccaatagcttggc	7	18	6	10	1	2	0	1	0	1	0	3	0	3	0	2	2	3	3	2	2	4	9			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:37295836T>C	ENST00000233099.5	-	8	1260	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.M389V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	389						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGGCTTTCATTTGTTTTCCA	0.353																																						uc002rpp.1																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1165-1167)Atg>Gtg		Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.							73	72	72					2																	37295836		2203	4299	6502	SO:0001583	missense	54497						binding	g.chr2:37295836T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1165A>G	2.37:g.37295836T>C	ENSP00000233099:p.Met389Val						p.M389V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			7	1261	-		all_hematologic(82;0.21)	389					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1165A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699437	0.48307	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07688	3.17;3.17	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.52126	1.63	0.80722	D	1	B	0.28208	0.203	B	0.25506	0.061	T	0.15235	-1.0444	10	0.21014	T	0.42	-22.1435	15.5439	0.76077	0.0:0.0:0.0:1.0	.	389	Q9P2D3	HTR5B_HUMAN	V	389	ENSP00000233099:M389V;ENSP00000346531:M389V	ENSP00000233099:M389V	M	-	1	0	HEATR5B	37149340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.892000	0.87324	2.072000	0.62099	0.533000	0.62120	ATG		0.353	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		C	37295836	T	C	37295836	3	2	236	1	0	0	0	0	1	0	0	0	7032	1493	52	4	5166	4	HEATR5B	2	37295836	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		37295836	205903537	8	16636											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-																															gtggaaatgtactctgggagTgatgatgatgatgattttaa																										TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	uc002tab.3																			0		p.D142N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(409-414)agtgat>agt		Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.D142del	NM_015904	NP_056988	O60841	IF2P_HUMAN			3	595_597	+			142			Poly-Asp.		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		-	99977777	TGA	-	99977775	7	5	236	1	0	1	0	1	0	0	0	0	5044	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-32-4209-01A-01D-1353-08	62681939	99977775	143221598	9	16637											
KIF5C	3800	broad.mit.edu	37	chr2	149793797	149793797	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtattttcgcccactaGgggaagctgcatgaccccca	8	11	10	12	1	0	1	0	1	0	0	1	2	0	2	3	2	2	4	3	2	3	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:149793797G>A	ENST00000435030.1	+	4	659		c.e4-1		KIF5C_ENST00000414838.2_Splice_Site			O60282	KIF5C_HUMAN	kinesin family member 5C						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCGCCCACTAGGGGAAGCTGC	0.512																																						uc010zbu.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e4-1		Homo sapiens kinesin family member 5C (KIF5C), mRNA.							40	38	39					2																	149793797		1959	4172	6131	SO:0001630	splice_region_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793797G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.292-1G>A	2.37:g.149793797G>A							p.G98_splice	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	687	+			98			Kinesin-motor.		O95079|Q2YDC5	Splice_Site	SNP	ENST00000435030.1	37	c.292_splice		.	.	.	.	.	.	.	.	.	.	G	24.8	4.574517	0.86542	.	.	ENSG00000168280	ENST00000435030;ENST00000414838	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5302	0.87811	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF5C	149502043	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	9.357000	0.97099	2.512000	0.84698	0.563000	0.77884	.		0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Intron	A	149793797	G	A	149793797	5	1	236	1	0	0	0	0	0	0	1	0	8307	1014	35	3	227	3	KIF5C	2	149793797	Splice_Site	SNP	G	TCGA-32-4209-01A-01D-1353-08	49816022	149793797	93405576	10	16638											
STXBP5L	9515	broad.mit.edu	37	chr3	120871386	120871386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaatctaaaagagcagaActgagagtttattatgatga	17	12	9	3	0	1	6	0	4	1	3	1	7	1	6	0	0	2	2	0	0	6	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:120871386A>G	ENST00000273666.6	+	8	1003	c.732A>G	c.(730-732)gaA>gaG	p.E244E	STXBP5L_ENST00000471454.1_Silent_p.E244E|STXBP5L_ENST00000492541.1_Silent_p.E244E|STXBP5L_ENST00000472879.1_Silent_p.E244E|STXBP5L_ENST00000497029.1_Silent_p.E244E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	244					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAGAGCAGAACTGAGAGTTT	0.333																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(730-732)gaA>gaG		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							122	122	122					3																	120871386		1848	4091	5939	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120871386A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.732A>G	3.37:g.120871386A>G						STXBP5L_uc011bji.2_Silent_p.E244E	p.E244E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	7	872	+			244					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.732A>G	CCDS43137.1																																																																																				0.333	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			G	120871386	A	G	120871386	2	3	236	1	0	0	0	0	0	0	0	1	15356	40	2	4		4	STXBP5L	3	120871386	Silent	SNP	A	TCGA-32-4209-01A-01D-1353-08		120871386	77151044	11	16639											
PEX5L	51555	broad.mit.edu	37	chr3	179616029	179616029	+	Frame_Shift_Del	DEL	T	T	-																															ttatctgccgccctagagccTtttccctataacagtgaaat																										TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:179616029delT	ENST00000467460.1	-	3	429	c.99delA	c.(97-99)aaafs	p.K33fs	PEX5L_ENST00000263962.8_Frame_Shift_Del_p.K31fs|PEX5L_ENST00000465751.1_Frame_Shift_Del_p.K9fs|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000392649.3_5'Flank|PEX5L_ENST00000485199.1_Intron|PEX5L-AS2_ENST00000462801.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	33					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCTAGAGCCTTTTCCCTATA	0.413																																						uc003fki.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(97-99)aaafs		Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.							90	87	88					3																	179616029		2203	4300	6503	SO:0001589	frameshift_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179616029delT	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.99delA	3.37:g.179616029delT	ENSP00000419975:p.Lys33fs					PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron	p.K33fs	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		2	229	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		33					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Frame_Shift_Del	DEL	ENST00000467460.1	37	c.99delA	CCDS3236.1																																																																																				0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		-	179616029	T	-	179616029	7	5	236	1	0	1	0	1	0	0	0	0	11749	1606	56	0	1833	0	PEX5L	3	179616029	Frame_Shift_Del	DEL	T	TCGA-32-4209-01A-01D-1353-08	58744643	179616029	18406401	12	16640											
C3orf59	151963	broad.mit.edu	37	chr3	192517421	192517421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccactggaagcttttggTccagcttttgcaccattcct	7	14	8	12	0	0	0	0	0	0	0	2	1	2	1	4	2	4	3	4	2	2	6	rs117555490	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:192517421T>C	ENST00000392452.2	-	2	550	c.230A>G	c.(229-231)gAc>gGc	p.D77G		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	77							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AAGCTTTTGGTCCAGCTTTTG	0.443													T|||	27	0.00539137	0	0	5008	,	,		20347	0.0268		0	False		,,,				2504	0					uc011bsp.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(229-231)gAc>gGc		Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.							36	34	34					3																	192517421		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517421T>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.230A>G	3.37:g.192517421T>C	ENSP00000376246:p.Asp77Gly						p.D77G	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN			1	551	-			77					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.230A>G	CCDS3302.2	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	T	28.4	4.913345	0.92178	.	.	ENSG00000180611	ENST00000392452	T	0.69926	-0.44	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.75665	-0.3239	10	0.87932	D	0	.	15.5887	0.76506	0.0:0.0:0.0:1.0	.	77	Q8IYB1	M21D2_HUMAN	G	77	ENSP00000376246:D77G	ENSP00000376246:D77G	D	-	2	0	MB21D2	194000115	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	GAC		0.443	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		C	192517421	T	C	192517421	3	2	236	1	0	0	0	0	1	0	0	0	2237	1667	58	4	1249	4	C3orf59	3	192517421	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08	12901392	192517421	5505009	13	16641											
NKX3-2	579	broad.mit.edu	37	chr4	13546023	13546023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacgtcaaggtgttggCgccgcgcacagccatctgcg	8	6	15	12	5	2	0	1	0	1	0	2	2	2	1	2	3	2	2	2	3	2	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr4:13546023C>T	ENST00000382438.5	-	1	651	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	6					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGGTGTTGGCGCCGCGCACA	0.771																																						uc003gmx.2																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(16-18)Gcc>Acc		Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.							4	5	5					4																	13546023		1199	2371	3570	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13546023C>T	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.16G>A	4.37:g.13546023C>T	ENSP00000371875:p.Ala6Thr						p.A6T	NM_001189	NP_001180	P78367	NKX32_HUMAN			0	92	-			6					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.16G>A	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	c	15.44	2.834876	0.50951	.	.	ENSG00000109705	ENST00000382438	D	0.91464	-2.85	3.26	1.46	0.22682	.	0.392920	0.22695	N	0.056762	T	0.75860	0.3907	N	0.08118	0	0.23449	N	0.997653	B	0.06786	0.001	B	0.04013	0.001	T	0.64668	-0.6353	10	0.54805	T	0.06	.	2.9262	0.05785	0.2152:0.5334:0.0:0.2514	.	6	P78367	NKX32_HUMAN	T	6	ENSP00000371875:A6T	ENSP00000371875:A6T	A	-	1	0	NKX3-2	13155121	0.933000	0.31639	0.998000	0.56505	0.997000	0.91878	0.576000	0.23744	0.212000	0.20703	0.550000	0.68814	GCC		0.771	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			T	13546023	C	T	13546023	3	4	236	1	0	0	0	0	1	0	0	0	10456	768	27	1	993	1	NKX3-2	4	13546023	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		13546023	177608253	14	16642											
GEMIN5	25929	broad.mit.edu	37	chr5	154275813	154275813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgtgttccaagtgtGgtaagaggaggagcttttgc	7	11	16	7	1	0	1	0	0	0	1	1	3	1	3	2	4	3	3	2	4	2	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:154275813G>C	ENST00000285873.7	-	24	3511	c.3436C>G	c.(3436-3438)Cac>Gac	p.H1146D		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1146					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCAAGTGTGGTAAGAGGAG	0.547																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3436-3438)Cac>Gac		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							84	77	79					5																	154275813		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154275813G>C	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3436C>G	5.37:g.154275813G>C	ENSP00000285873:p.His1146Asp					GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	p.H1146D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		23	3519	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1146					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.3436C>G	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521102	0.27211	.	.	ENSG00000082516	ENST00000285873	T	0.73897	-0.79	5.44	4.52	0.55395	.	0.050651	0.85682	D	0.000000	T	0.71846	0.3388	M	0.63843	1.955	0.50632	D	0.99988	B;B	0.29085	0.232;0.232	B;B	0.29176	0.099;0.099	T	0.70528	-0.4847	10	0.49607	T	0.09	-11.2077	13.966	0.64209	0.0:0.0:0.8127:0.1873	.	1145;1146	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	D	1146	ENSP00000285873:H1146D	ENSP00000285873:H1146D	H	-	1	0	GEMIN5	154256006	1.000000	0.71417	0.780000	0.31762	0.371000	0.29859	3.702000	0.54800	1.165000	0.42670	0.462000	0.41574	CAC		0.547	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			C	154275813	G	C	154275813	3	2	236	1	0	0	0	0	1	0	0	0	6331	1348	47	5	1110	5	GEMIN5	5	154275813	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		154275813	26639447	15	16643											
AGXT2L2	85007	broad.mit.edu	37	chr5	177649920	177649920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactgggcagagactcagCgaagaaggctgcaatctgtg	12	6	13	10	1	2	2	1	0	1	2	2	4	2	2	0	2	2	3	0	2	3	0	rs142142484	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:177649920C>T	ENST00000308158.5	-	7	868	c.634G>A	c.(634-636)Gct>Act	p.A212T	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	212						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	AGAGACTCAGCGAAGAAGGCT	0.587													C|||	23	0.00459265	0.0174	0	5008	,	,		19564	0		0	False		,,,				2504	0					uc003miz.3																			0				breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6						c.(634-636)Gct>Act		Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	C	THR/ALA	31,4375	36.8+/-68.6	1,29,2173	104	88	93		634	3.2	0	5	dbSNP_134	93	0,8600		0,0,4300	yes	missense	AGXT2L2	NM_153373.2	58	1,29,6473	TT,TC,CC		0.0,0.7036,0.2384	benign	212/451	177649920	31,12975	2203	4300	6503	SO:0001583	missense	85007					mitochondrion	pyridoxal phosphate binding|transaminase activity	g.chr5:177649920C>T	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.634G>A	5.37:g.177649920C>T	ENSP00000310978:p.Ala212Thr					AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.A171T|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	p.A212T	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	6	886	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	212					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.634G>A	CCDS4434.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.67	3.673404	0.67928	0.007036	0.0	ENSG00000175309	ENST00000308158	D	0.85556	-2.0	5.34	3.19	0.36642	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.335067	0.35013	N	0.003501	D	0.86385	0.5920	M	0.85373	2.75	0.20703	N	0.999866	D;D	0.63880	0.986;0.993	P;P	0.56700	0.804;0.804	T	0.79734	-0.1679	10	0.59425	D	0.04	.	8.2226	0.31549	0.0:0.7678:0.0:0.2322	.	212;212	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	T	212	ENSP00000310978:A212T	ENSP00000310978:A212T	A	-	1	0	AGXT2L2	177582526	0.000000	0.05858	0.015000	0.15790	0.841000	0.47740	0.641000	0.24720	1.411000	0.46957	0.563000	0.77884	GCT		0.587	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		T	177649920	C	T	177649920	3	4	236	1	0	0	0	0	1	0	0	0	407	768	27	1	742	1	AGXT2L2	5	177649920	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	23374107	177649920	3265340	16	16644											
BMP6	654	broad.mit.edu	37	chr6	7727630	7727630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgccctgtccgccgacaacGacgaggacggggcgtcggag	8	3	16	14	8	0	0	0	0	0	0	2	5	1	2	3	4	1	0	3	4	1	0			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:7727630G>A	ENST00000283147.6	+	1	601	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	148					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCCGACAACGACGAGGACGG	0.731																																						uc003mxu.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(442-444)Gac>Aac		Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.							13	14	13					6																	7727630		2161	4248	6409	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727630G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.442G>A	6.37:g.7727630G>A	ENSP00000283147:p.Asp148Asn						p.D148N	NM_001718	NP_001709	P22004	BMP6_HUMAN			0	620	+	Ovarian(93;0.0721)		148					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.442G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703640	0.15172	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.75154	-0.91	3.64	2.77	0.32553	Transforming growth factor-beta, N-terminal (1);	0.526708	0.18536	N	0.138352	T	0.30947	0.0781	N	0.16656	0.425	0.20638	N	0.999877	B	0.12630	0.006	B	0.13407	0.009	T	0.23404	-1.0189	10	0.10902	T	0.67	.	9.0002	0.36077	0.1084:0.0:0.8916:0.0	.	148	P22004	BMP6_HUMAN	N	70;148;111	ENSP00000283147:D148N	ENSP00000283147:D148N	D	+	1	0	BMP6	7672629	1.000000	0.71417	0.312000	0.25196	0.185000	0.23345	4.142000	0.58044	0.719000	0.32188	-0.379000	0.06801	GAC		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		A	7727630	G	A	7727630	3	1	236	1	0	0	0	0	1	0	0	0	1464	1058	37	2	444	2	BMP6	6	7727630	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		7727630	163387437	17	16645											
NFKBIE	4794	broad.mit.edu	37	chr6	44229437	44229437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgcccttccagcaggCagcgggcacaggccaagtgc	7	4	14	16	2	0	0	0	0	0	0	1	0	1	0	4	4	3	3	4	4	1	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:44229437C>A	ENST00000275015.5	-	3	1033	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	345					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCAGGCAGCGGGCACA	0.632																																						uc003oxe.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(1033-1035)tGc>tTc		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.							52	47	49					6																	44229437		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229437C>A	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1034G>T	6.37:g.44229437C>A	ENSP00000275015:p.Cys345Phe						p.C345F	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	1059	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		345					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.1034G>T	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833385	0.32421	.	.	ENSG00000146232	ENST00000275015	T	0.61980	0.06	5.28	4.21	0.49690	Ankyrin repeat-containing domain (3);	0.291433	0.33834	N	0.004511	T	0.24699	0.0599	L	0.38175	1.15	0.39141	D	0.962037	B	0.32753	0.383	B	0.32465	0.146	T	0.23619	-1.0183	10	0.09084	T	0.74	-30.5063	3.2491	0.06807	0.1679:0.5418:0.1633:0.127	.	345	O00221	IKBE_HUMAN	F	345	ENSP00000275015:C345F	ENSP00000275015:C345F	C	-	2	0	NFKBIE	44337415	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.283000	0.33237	2.470000	0.83445	0.655000	0.94253	TGC		0.632	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			A	44229437	C	A	44229437	3	1	236	1	0	0	0	0	1	0	0	0	10380	710	25	5	484	5	NFKBIE	6	44229437	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	36501807	44229437	126885630	18	16646											
RFPL4B	442247	broad.mit.edu	37	chr6	112671523	112671523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgcaagccctcgccttCgccgtgtgggaattttcctg	4	13	10	14	3	0	0	0	0	0	0	4	1	2	1	5	1	2	1	5	1	2	4	rs143103700		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:112671523C>T	ENST00000441065.2	+	3	925	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448													C|||	1	0.000199681	0	0	5008	,	,		20665	0		0.001	False		,,,				2504	0					uc003pvx.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(613-615)Cgc>Tgc		Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	72	67	69		613	-9	0	6	dbSNP_134	69	6,8594	5.0+/-18.6	0,6,4294	yes	missense	RFPL4B	NM_001013734.2	180	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign	205/264	112671523	8,12998	2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671523C>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.613C>T	6.37:g.112671523C>T	ENSP00000423391:p.Arg205Cys					RFPL4B_uc021zdy.1_Missense_Mutation_p.R205C	p.R205C	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	2	925	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	205			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.613C>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	7.255	0.604038	0.14002	4.54E-4	6.98E-4	ENSG00000251258	ENST00000441065	T	0.71103	-0.54	4.48	-8.96	0.00761	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	2.793520	0.01584	N	0.021247	T	0.22360	0.0539	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10109	-1.0644	10	0.24483	T	0.36	.	3.2915	0.06950	0.086:0.3126:0.279:0.3224	.	205	Q6ZWI9	RFPLB_HUMAN	C	205	ENSP00000423391:R205C	ENSP00000423391:R205C	R	+	1	0	RFPL4B	112778216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.751000	0.01821	-3.174000	0.00224	-0.885000	0.02943	CGC		0.448	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		T	112671523	C	T	112671523	3	4	236	1	0	0	0	0	1	0	0	0	13256	884	31	2	615	2	RFPL4B	6	112671523	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	68442086	112671523	58443544	19	16647											
DSE	29940	broad.mit.edu	37	chr6	116757341	116757341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgcttctccttgtagaCcaaatacacctgggagagga	11	9	10	11	0	1	2	0	0	1	2	2	4	1	3	3	2	3	3	3	2	3	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:116757341C>A	ENST00000331677.3	+	7	2154	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	DSE_ENST00000359564.2_Missense_Mutation_p.D570E|DSE_ENST00000452085.3_Missense_Mutation_p.D570E|DSE_ENST00000537543.1_Missense_Mutation_p.D589E			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	570					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCTTGTAGACCAAATACACC	0.502																																						uc011ebg.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1765-1767)gaC>gaA		Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.							52	54	53					6																	116757341		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757341C>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1710C>A	6.37:g.116757341C>A	ENSP00000332151:p.Asp570Glu					DSE_uc003pws.3_Missense_Mutation_p.D570E|DSE_uc003pwt.3_Missense_Mutation_p.D570E|DSE_uc003pwu.3_Missense_Mutation_p.D237E	p.D589E	NM_013352	NP_037484	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	5	1866	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	570					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1767C>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304054	0.60305	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.42131	0.99;0.98;0.99;0.99	6.01	4.05	0.47172	.	0.042732	0.85682	D	0.000000	T	0.55194	0.1905	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.63079	-0.6717	10	0.66056	D	0.02	-25.0831	15.6738	0.77300	0.0:0.9237:0.0:0.0763	.	589;570	B7Z765;Q9UL01	.;DSE_HUMAN	E	570;589;570;570	ENSP00000404049:D570E;ENSP00000441152:D589E;ENSP00000332151:D570E;ENSP00000352567:D570E	ENSP00000332151:D570E	D	+	3	2	DSE	116864034	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.062000	0.41413	0.666000	0.31087	0.650000	0.86243	GAC		0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		A	116757341	C	A	116757341	3	1	236	1	0	0	0	0	1	0	0	0	4774	506	18	5	1728	5	DSE	6	116757341	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	4085818	116757341	54357726	20	16648											
CLIP2	7461	broad.mit.edu	37	chr7	73771699	73771699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcagcagcacattgaGcagctgctggctgaacgaga	13	5	14	9	1	0	4	0	2	0	2	0	6	0	4	0	1	7	7	0	1	2	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr7:73771699G>A	ENST00000395060.1	+	5	1107	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIP2_ENST00000223398.6_Silent_p.E369E|CLIP2_ENST00000361545.5_Silent_p.E369E			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	369						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCACATTGAGCAGCTGCTGG	0.617																																						uc003uam.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1105-1107)gaG>gaA		Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.							58	39	46					7																	73771699		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73771699G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1107G>A	7.37:g.73771699G>A						CLIP2_uc003uan.3_Silent_p.E369E	p.E369E	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			5	1434	+			369					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1107G>A	CCDS5569.1																																																																																				0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		A	73771699	G	A	73771699	2	1	236	1	0	0	0	0	0	0	0	1	3533	962	34	3		3	CLIP2	7	73771699	Silent	SNP	G	TCGA-32-4209-01A-01D-1353-08		73771699	85366964	21	16649											
PRUNE2	158471	broad.mit.edu	37	chr9	79321219	79321219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatttgtttcttgaccttCattagttgaaacattagatg	10	18	7	6	0	2	4	1	3	1	1	2	4	2	4	1	0	1	2	1	0	3	7			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:79321219C>G	ENST00000376718.3	-	8	6094	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1632Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1991					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTTGACCTTCATTAGTTGAA	0.423																																						uc010mpk.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5971-5973)Gaa>Caa		Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.							120	104	109					9																	79321219		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321219C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5971G>C	9.37:g.79321219C>G	ENSP00000365908:p.Glu1991Gln					PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1813Q	p.E1991Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			7	6095	-			1991					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5971G>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.409|7.409	0.634371|0.634371	0.14322|0.14322	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.52295|.	0.67;0.68|.	5.09|5.09	4.19|4.19	0.49359|0.49359	.|.	0.132018|.	0.34700|.	N|.	0.003750|.	T|.	0.48277|.	0.1491|.	M|M	0.64997|0.64997	1.995|1.995	0.30468|0.30468	N|N	0.773602|0.773602	P|.	0.49253|.	0.921|.	B|.	0.42882|.	0.401|.	T|.	0.53940|.	-0.8367|.	10|.	0.23302|.	T|.	0.38|.	-15.6032|-15.6032	4.0749|4.0749	0.09899|0.09899	0.1324:0.5904:0.1284:0.1489|0.1324:0.5904:0.1284:0.1489	.|.	1991|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|S	1991;1632;1990|1312	ENSP00000365908:E1991Q;ENSP00000397425:E1632Q|.	ENSP00000365908:E1991Q|.	E|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78511039|78511039	0.000000|0.000000	0.05858|0.05858	0.097000|0.097000	0.21041|0.21041	0.022000|0.022000	0.10575|0.10575	0.687000|0.687000	0.25407|0.25407	1.468000|1.468000	0.48064|0.48064	0.561000|0.561000	0.74099|0.74099	GAA|TGA		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		G	79321219	C	G	79321219	3	3	236	1	0	0	0	0	1	0	0	0	12641	835	29	5	3343	5	PRUNE2	9	79321219	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		79321219	61892212	22	16650											
DAPK1	1612	broad.mit.edu	37	chr9	90266587	90266587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaagatggcaacatgcCtatcgtggtggccctctgtg	9	11	12	9	1	1	1	0	0	1	1	2	1	1	1	2	3	2	2	2	3	4	2	rs36214022		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:90266587C>T	ENST00000408954.3	+	17	2107	c.1772C>T	c.(1771-1773)cCt>cTt	p.P591L	DAPK1_ENST00000472284.1_Missense_Mutation_p.P591L|DAPK1_ENST00000469640.2_Missense_Mutation_p.P591L|DAPK1_ENST00000491893.1_Missense_Mutation_p.P591L|DAPK1_ENST00000358077.5_Missense_Mutation_p.P591L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	591			P -> L. {ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCAACATGCCTATCGTGGTG	0.498									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.3																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1771-1773)cCt>cTt		Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.							140	143	142					9																	90266587		2082	4220	6302	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90266587C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1772C>T	9.37:g.90266587C>T	ENSP00000386135:p.Pro591Leu					DAPK1_uc004apd.3_Missense_Mutation_p.P591L|DAPK1_uc011ltg.2_Missense_Mutation_p.P591L|DAPK1_uc011lth.2_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	p.P591L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			16	1910	+			591		P -> L.			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1772C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315401	0.81358	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.09	5.1	5.1	0.69264	Ankyrin repeat-containing domain (4);	0.000000	0.52532	D	0.000078	T	0.67135	0.2861	N	0.20845	0.615	0.80722	D	1	P;D;P	0.62365	0.81;0.991;0.954	P;D;P	0.65010	0.498;0.931;0.69	T	0.71159	-0.4674	10	0.66056	D	0.02	.	18.667	0.91493	0.0:1.0:0.0:0.0	rs36214022	591;145;591	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	L	591	ENSP00000350785:P591L;ENSP00000417076:P591L;ENSP00000418885:P591L;ENSP00000386135:P591L;ENSP00000419026:P591L	ENSP00000350785:P591L	P	+	2	0	DAPK1	89456407	1.000000	0.71417	0.778000	0.31720	0.426000	0.31534	7.546000	0.82137	2.818000	0.97014	0.655000	0.94253	CCT		0.498	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90266587	C	T	90266587	3	4	236	1	0	0	0	0	1	0	0	0	4235	681	24	3	1834	3	DAPK1	9	90266587	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	10945368	90266587	50946844	23	16651											
TLL2	7093	broad.mit.edu	37	chr10	98155658	98155658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggaaggtaagtcccaCgtgaaacccctctgaaaccg	12	7	10	12	2	1	2	0	2	1	0	2	3	2	3	4	2	3	2	4	2	4	2	rs368837755		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:98155658C>T	ENST00000357947.3	-	12	1729	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	502	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTAAGTCCCACGTGAAACCCC	0.498											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kml.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1504-1506)Gtg>Atg		Homo sapiens tolloid-like 2 (TLL2), mRNA.		C	MET/VAL	0,4406		0,0,2203	119	111	113		1504	5.4	1	10		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLL2	NM_012465.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	502/1016	98155658	1,13005	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155658C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1504G>A	10.37:g.98155658C>T	ENSP00000350630:p.Val502Met		OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1333	TLL2_uc009xvf.2_Missense_Mutation_p.V480M	p.V502M	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1745	-		Colorectal(252;0.0846)	502			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1504G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376228	0.82682	0.0	1.16E-4	ENSG00000095587	ENST00000357947	T	0.28255	1.62	5.37	5.37	0.77165	CUB (5);	0.197273	0.25631	N	0.029352	T	0.60143	0.2246	M	0.91354	3.2	0.58432	D	0.999997	D	0.76494	0.999	D	0.65684	0.937	T	0.67440	-0.5670	10	0.87932	D	0	.	11.3984	0.49856	0.0:0.9104:0.0:0.0896	.	502	Q9Y6L7	TLL2_HUMAN	M	502	ENSP00000350630:V502M	ENSP00000350630:V502M	V	-	1	0	TLL2	98145648	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	5.901000	0.69861	2.793000	0.96121	0.563000	0.77884	GTG		0.498	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			T	98155658	C	T	98155658	3	4	236	1	0	0	0	0	1	0	0	0	15943	536	19	1	1583	1	TLL2	10	98155658	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		98155658	37379089	24	16652											
CHUK	1147	broad.mit.edu	37	chr10	101960490	101960490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagctccatgatttcAgcatgcaaagacataatctg	12	13	7	9	0	3	2	1	1	2	1	4	2	4	2	1	0	3	4	1	0	3	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:101960490A>G	ENST00000370397.7	-	15	1703	c.1617T>C	c.(1615-1617)gcT>gcC	p.A539A		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	539					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCATGATTTCAGCATGCAAAG	0.413																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(1615-1617)gcT>gcC		Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.							141	132	135					10																	101960490		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101960490A>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1617T>C	10.37:g.101960490A>G							p.A539A	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	14	1672	-		Colorectal(252;0.117)	539					O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.1617T>C	CCDS7488.1																																																																																				0.413	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		G	101960490	A	G	101960490	2	3	236	1	0	0	0	0	0	0	0	1	3416	175	7	4		4	CHUK	10	101960490	Silent	SNP	A	TCGA-32-4209-01A-01D-1353-08	3804832	101960490	33574257	25	16653											
MYO7A	4647	broad.mit.edu	37	chr11	76901767	76901767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtccaagaagccaatcaTgttgcccgtgacattcatgg	12	9	9	11	1	2	2	2	1	0	1	3	2	3	2	3	1	2	1	3	1	4	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr11:76901767T>C	ENST00000409709.3	+	30	4048	c.3776T>C	c.(3775-3777)aTg>aCg	p.M1259T	MYO7A_ENST00000409619.2_Missense_Mutation_p.M1248T|MYO7A_ENST00000458637.2_Missense_Mutation_p.M1259T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1259	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCCAATCATGTTGCCCGTG	0.597																																						uc001oyb.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3775-3777)aTg>aCg		Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.							52	59	57					11																	76901767		2075	4194	6269	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76901767T>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3776T>C	11.37:g.76901767T>C	ENSP00000386331:p.Met1259Thr					MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	p.M1259T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			29	4048	+			1259			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.3776T>C	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121853	0.37436	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.97	4.97	0.65823	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.83312	2.635	0.80722	D	1	P;B;P	0.38020	0.615;0.082;0.615	B;B;B	0.43867	0.254;0.041;0.434	T	0.78568	-0.2154	10	0.12103	T	0.63	.	14.6351	0.68682	0.0:0.0:0.0:1.0	.	1248;1259;1259	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1259;1259;1248;470;1258;1228;1135;440	ENSP00000386331:M1259T;ENSP00000392185:M1259T;ENSP00000386635:M1248T;ENSP00000417017:M440T	ENSP00000345075:M1135T	M	+	2	0	MYO7A	76579415	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.963000	0.70372	1.856000	0.53863	0.472000	0.43445	ATG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		C	76901767	T	C	76901767	3	2	236	1	0	0	0	0	1	0	0	0	10082	1464	51	4	3924	4	MYO7A	11	76901767	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		76901767	58104749	26	16654											
C12orf35	55196	broad.mit.edu	37	chr12	32135884	32135884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcctgctaaaagtgaCagtagctgttccatggaagt	12	10	12	7	0	0	1	0	1	0	0	1	3	1	3	2	2	3	4	2	2	5	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:32135884C>G	ENST00000312561.4	+	4	2409	c.1995C>G	c.(1993-1995)gaC>gaG	p.D665E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	665																	CTAAAAGTGACAGTAGCTGTT	0.423																																						uc001rks.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59						c.(1993-1995)gaC>gaG		Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.							71	67	68					12																	32135884		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135884C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1995C>G	12.37:g.32135884C>G	ENSP00000310338:p.Asp665Glu						p.D665E	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		3	2409	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		665					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1995C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645395	0.47258	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.13901	3.57;2.55	4.72	3.6	0.41247	.	1.041540	0.07572	N	0.918764	T	0.16599	0.0399	L	0.54323	1.7	0.09310	N	1	P	0.40731	0.728	B	0.41036	0.346	T	0.14090	-1.0485	9	.	.	.	.	7.7114	0.28679	0.166:0.7321:0.0:0.1019	.	665	Q9HCM1	CL035_HUMAN	E	665	ENSP00000310338:D665E;ENSP00000370442:D665E	.	D	+	3	2	C12orf35	32027151	0.000000	0.05858	0.005000	0.12908	0.017000	0.09413	-0.234000	0.09028	2.181000	0.69327	0.563000	0.77884	GAC		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		G	32135884	C	G	32135884	3	3	236	1	0	0	0	0	1	0	0	0	1682	477	17	5	1997	5	C12orf35	12	32135884	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		32135884	101716011	27	16655											
ABCD2	225	broad.mit.edu	37	chr12	40013182	40013182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaagaaatctgcattcactCcaggcgaaggtttttcacaa	13	11	8	9	1	3	2	2	1	1	1	4	3	4	2	1	2	1	2	1	2	4	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:40013182C>G	ENST00000308666.3	-	1	371	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	79	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCATTCACTCCAGGCGAAGG	0.463																																						uc001rmb.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(235-237)gGa>gCa		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.							105	111	109					12																	40013182		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013182C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.236G>C	12.37:g.40013182C>G	ENSP00000310688:p.Gly79Ala						p.G79A	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			0	662	-			79			Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.236G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	7.380	0.628681	0.14257	.	.	ENSG00000173208	ENST00000308666	D	0.94497	-3.44	4.83	2.96	0.34315	.	0.180590	0.48286	N	0.000191	D	0.86125	0.5858	N	0.05230	-0.09	0.39293	D	0.964766	B	0.10296	0.003	B	0.22880	0.042	T	0.77579	-0.2535	9	.	.	.	-17.7866	14.3629	0.66785	0.0:0.4028:0.5972:0.0	.	79	Q9UBJ2	ABCD2_HUMAN	A	79	ENSP00000310688:G79A	.	G	-	2	0	ABCD2	38299449	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	2.699000	0.47077	0.603000	0.29913	0.655000	0.94253	GGA		0.463	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		G	40013182	C	G	40013182	3	3	236	1	0	0	0	0	1	0	0	0	61	855	30	5	2026	5	ABCD2	12	40013182	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	7877298	40013182	93838713	28	16656											
OR6C2	341416	broad.mit.edu	37	chr12	55846834	55846834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagttcttactacttctgtCgcacccttgttgaacccctt	6	16	5	14	1	3	1	1	1	2	0	4	1	3	1	3	0	3	3	3	0	3	7			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:55846834C>T	ENST00000322678.1	+	1	837	c.837C>T	c.(835-837)gtC>gtT	p.V279V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	279					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTACTTCTGTCGCACCCTTGT	0.408																																						uc001sgz.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(835-837)gtC>gtT		Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.							124	124	124					12																	55846834		2203	4300	6503	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846834C>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.837C>T	12.37:g.55846834C>T							p.V279V	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			0	837	+			279						Silent	SNP	ENST00000322678.1	37	c.837C>T	CCDS31824.1																																																																																				0.408	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		T	55846834	C	T	55846834	2	4	236	1	0	0	0	0	0	0	0	1	11191	871	31	2		2	OR6C2	12	55846834	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08	15833652	55846834	78005061	29	16657											
LEMD3	23592	broad.mit.edu	37	chr12	65637180	65637180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtagcatttcatttagAtagaagaaattcaccaccaa	15	14	5	7	0	2	3	2	0	0	3	2	3	2	3	2	0	1	2	2	0	6	8			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:65637180A>G	ENST00000308330.2	+	10	2344	c.2318A>G	c.(2317-2319)gAt>gGt	p.D773G		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	773	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTCATTTAGATAGAAGAAAT	0.303																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2317-2319)gAt>gGt		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							118	120	119					12																	65637180		2202	4299	6501	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65637180A>G	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2318A>G	12.37:g.65637180A>G	ENSP00000308369:p.Asp773Gly					LEMD3_uc009zqo.2_Missense_Mutation_p.D772G	p.D773G	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	9	2344	+			773			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.2318A>G	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409676	0.83340	.	.	ENSG00000174106	ENST00000308330	T	0.50277	0.75	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.47016	1.485	0.80722	D	1	B	0.33288	0.406	P	0.49451	0.611	T	0.52403	-0.8580	9	.	.	.	-17.0538	15.9956	0.80237	1.0:0.0:0.0:0.0	.	773	Q9Y2U8	MAN1_HUMAN	G	773	ENSP00000308369:D773G	.	D	+	2	0	LEMD3	63923447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.664000	0.91139	2.248000	0.74166	0.533000	0.62120	GAT		0.303	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			G	65637180	A	G	65637180	3	3	236	1	0	0	0	0	1	0	0	0	8721	333	12	4	2356	4	LEMD3	12	65637180	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	9790346	65637180	68214715	30	16658											
IKBIP	121457	broad.mit.edu	37	chr12	99007867	99007867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacatcagttactaaaccTgaaatccgtcgtatatctgt	13	14	5	9	2	2	1	1	1	1	0	4	1	3	1	2	0	3	2	2	0	7	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:99007867T>C	ENST00000342502.2	-	3	960	c.549A>G	c.(547-549)tcA>tcG	p.S183S	IKBIP_ENST00000420861.1_Silent_p.S77S|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	183					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTACTAAACCTGAAATCCGTC	0.308																																						uc001tfv.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(547-549)tcA>tcG		Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.							72	67	68					12																	99007867		2203	4298	6501	SO:0001819	synonymous_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007867T>C	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.549A>G	12.37:g.99007867T>C						IKBIP_uc001tfw.3_3'UTR	p.S183S	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			2	659	-			183					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.549A>G	CCDS9067.1																																																																																				0.308	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		C	99007867	T	C	99007867	2	2	236	1	0	0	0	0	0	0	0	1	7609	1567	55	4		4	IKBIP	12	99007867	Silent	SNP	T	TCGA-32-4209-01A-01D-1353-08	33370687	99007867	34844028	31	16659											
MMP14	4323	broad.mit.edu	37	chr14	23312494	23312494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctggtggctgtgcaCgagctgggccatgccctggg	4	10	15	12	1	1	0	0	0	1	0	2	1	2	0	3	4	3	3	3	4	0	1	rs548260059		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr14:23312494C>T	ENST00000311852.6	+	5	978	c.717C>T	c.(715-717)caC>caT	p.H239H	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	239					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGGCTGTGCACGAGCTGGGCC	0.602													C|||	1	0.000199681	0	0	5008	,	,		18495	0.001		0	False		,,,				2504	0					uc001whc.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(715-717)caC>caT		Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.							78	65	69					14																	23312494		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312494C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.717C>T	14.37:g.23312494C>T							p.H239H	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	951	+	all_cancers(95;9.47e-05)		239					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.717C>T	CCDS9577.1																																																																																				0.602	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		T	23312494	C	T	23312494	2	4	236	1	0	0	0	0	0	0	0	1	9653	535	19	1		1	MMP14	14	23312494	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08		23312494	84037046	32	16660											
TMC7	79905	broad.mit.edu	37	chr16	19073157	19073157	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcccaaagggacatgAggaactaactagactgagcg	16	4	12	9	1	0	4	0	2	0	2	0	6	0	6	1	2	4	0	1	2	5	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr16:19073157A>T	ENST00000304381.5	+	16	2294	c.2164A>T	c.(2164-2166)Agg>Tgg	p.R722W	RP11-626G11.5_ENST00000567047.1_RNA|RP11-626G11.5_ENST00000568971.1_RNA|RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|TMC7_ENST00000421369.3_Missense_Mutation_p.R612W	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	722					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGGGACATGAGGAACTAACT	0.418																																						uc002dfq.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(2164-2166)Agg>Tgg		Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.							114	90	98					16																	19073157		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19073157A>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2164A>T	16.37:g.19073157A>T	ENSP00000304710:p.Arg722Trp					TMC7_uc010vap.2_Missense_Mutation_p.R612W	p.R722W	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN			15	2294	+			722					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.2164A>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405199	0.83230	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.74209	-0.81;-0.82	5.03	-1.81	0.07882	.	0.493791	0.20959	N	0.082589	T	0.73690	0.3619	L	0.43152	1.355	0.09310	N	1	D	0.57571	0.98	P	0.60286	0.872	T	0.66575	-0.5889	10	0.87932	D	0	.	7.9876	0.30220	0.3604:0.5166:0.123:0.0	.	722	Q7Z402	TMC7_HUMAN	W	722;612	ENSP00000304710:R722W;ENSP00000397081:R612W	ENSP00000304710:R722W	R	+	1	2	TMC7	18980658	0.339000	0.24784	0.001000	0.08648	0.600000	0.36913	0.502000	0.22594	-0.286000	0.09076	0.533000	0.62120	AGG		0.418	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		T	19073157	A	T	19073157	3	4	236	1	0	0	0	0	1	0	0	0	15987	295	11	5	2226	5	TMC7	16	19073157	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08		19073157	71281596	33	16661											
ULK2	9706	broad.mit.edu	37	chr17	19699577	19699577	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgcttgagttttagggaTtttgaaaggagctgtggtct	9	15	14	3	0	1	3	0	2	1	1	1	5	1	5	0	3	2	3	0	3	2	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:19699577T>G	ENST00000395544.4	-	19	2327	c.1828A>C	c.(1828-1830)Atc>Ctc	p.I610L	ULK2_ENST00000361658.2_Missense_Mutation_p.I610L|ULK2_ENST00000580130.1_5'Flank	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	610					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTTTAGGGATTTTGAAAGGA	0.413																																						uc002gwm.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1828-1830)Atc>Ctc		Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.							70	69	70					17																	19699577		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19699577T>G	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1828A>C	17.37:g.19699577T>G	ENSP00000378914:p.Ile610Leu					ULK2_uc002gwn.3_Missense_Mutation_p.I610L	p.I610L	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN			18	2337	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		610					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1828A>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926438	0.73327	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.28255	1.62;1.62	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.63428	1.95	0.45427	D	0.998405	D	0.53462	0.96	P	0.61592	0.891	T	0.36672	-0.9738	10	0.30078	T	0.28	-16.3367	15.3644	0.74510	0.0:0.0:0.0:1.0	.	610	Q8IYT8	ULK2_HUMAN	L	610	ENSP00000354877:I610L;ENSP00000378914:I610L	ENSP00000354877:I610L	I	-	1	0	ULK2	19640169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.258000	0.78371	2.228000	0.72767	0.533000	0.62120	ATC		0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		G	19699577	T	G	19699577	3	3	236	1	0	0	0	0	1	0	0	0	16973	1493	52	5	1318	5	ULK2	17	19699577	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		19699577	61495633	34	16662											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847561	40847561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggtggtttctttgagccGggcacctggatgcgctataa	7	13	13	8	2	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	2	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:40847561G>A	ENST00000264638.4	+	19	3232	c.3015G>A	c.(3013-3015)ccG>ccA	p.P1005P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1005					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.P1005P(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTTGAGCCGGGCACCTGGA	0.567																																						uc002iay.3																			1	Substitution - coding silent(1)	p.P1005P(2)	breast(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3013-3015)ccG>ccA		Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.							65	67	67					17																	40847561		2203	4297	6500	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847561G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3015G>A	17.37:g.40847561G>A						CNTNAP1_uc010wgs.2_Non-coding_Transcript	p.P1005P	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3231	+		Breast(137;0.000143)	1005						Silent	SNP	ENST00000264638.4	37	c.3015G>A	CCDS11436.1																																																																																				0.567	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		A	40847561	G	A	40847561	2	1	236	1	0	0	0	0	0	0	0	1	3646	1103	39	2		2	CNTNAP1	17	40847561	Silent	SNP	G	TCGA-32-4209-01A-01D-1353-08	21147984	40847561	40347649	35	16663											
TBCD	6904	broad.mit.edu	37	chr17	80842049	80842049	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgctgcggtgtttgacCgagacataaactgcagaaga	12	10	12	7	2	0	5	0	2	0	3	0	6	0	5	1	1	4	3	1	1	3	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:80842049C>T	ENST00000355528.4	+	15	1634	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.R502*|TBCD_ENST00000397466.2_Nonsense_Mutation_p.R116*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	502					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGTGTTTGACCGAGACATAAA	0.443																																						uc002kfy.1																			0											c.(1504-1506)Cga>Tga		Homo sapiens tubulin folding cofactor D (TBCD), mRNA.							103	100	101					17																	80842049		1917	4131	6048	SO:0001587	stop_gained	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80842049C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1504C>T	17.37:g.80842049C>T	ENSP00000347719:p.Arg502*					TBCD_uc002kfx.1_Nonsense_Mutation_p.R485*|TBCD_uc002kfz.3_Nonsense_Mutation_p.R502*	p.R502*	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1634	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	502					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Nonsense_Mutation	SNP	ENST00000355528.4	37	c.1504C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	37	6.087877	0.97271	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	.	.	.	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0689	0.86568	0.0:1.0:0.0:0.0	.	.	.	.	X	502;253;116;502	.	.	R	+	1	2	TBCD	78435338	1.000000	0.71417	0.990000	0.47175	0.015000	0.08874	2.716000	0.47219	2.340000	0.79590	0.563000	0.77884	CGA		0.443	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		T	80842049	C	T	80842049	4	4	236	1	0	0	0	0	0	1	0	0	15630	644	23	2	1562	2	TBCD	17	80842049	Nonsense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	39994488	80842049	353161	36	16664											
ZNF492	57615	broad.mit.edu	37	chr19	22846757	22846757	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtaaggtgcacaaaGaatgttacaatggacttaac	16	10	10	5	0	0	2	0	1	0	1	0	3	0	3	0	2	3	3	0	2	6	3	rs112130958		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:22846757G>T	ENST00000456783.2	+	4	530	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTGCACAAAGAATGTTACAA	0.299																																						uc002nqw.3																			0		p.I96K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(286-288)Gaa>Taa		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.							59	66	64					19																	22846757		2040	4220	6260	SO:0001587	stop_gained	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846757G>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.286G>T	19.37:g.22846757G>T	ENSP00000413660:p.Glu96*						p.E96*	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	530	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	96					Q08EI7|Q08EI8	Nonsense_Mutation	SNP	ENST00000456783.2	37	c.286G>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.48	2.548980	0.45383	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.17	-0.265	0.12946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	3.8348	0.08889	0.2785:0.0:0.7215:0.0	.	.	.	.	X	96	.	ENSP00000413660:E96X	E	+	1	0	ZNF492	22638597	0.029000	0.19370	0.001000	0.08648	0.003000	0.03518	0.983000	0.29552	-0.209000	0.10156	-0.511000	0.04467	GAA		0.299	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		T	22846757	G	T	22846757	4	4	236	1	0	0	0	0	0	1	0	0	17940	943	33	5	296	5	ZNF492	19	22846757	Nonsense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		22846757	36282226	37	16665											
CEACAM5	1048	broad.mit.edu	37	chr19	42224052	42224052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgtcacaagaaatgacGcaagagcctatgtatgtgga	15	9	10	7	1	2	3	2	1	0	2	2	4	2	4	1	1	1	2	1	1	6	2	rs138799075		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:42224052G>A	ENST00000221992.6	+	7	1810	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	CEACAM5_ENST00000405816.1_Missense_Mutation_p.A566T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.A565T|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	566	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AAGAAATGACGCAAGAGCCTA	0.522																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1696-1698)Gca>Aca		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.		A	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	201	183	189		1696	-2.5	0	19	dbSNP_134	189	3,8597	819.1+/-406.8	0,3,4297	yes	missense	CEACAM5	NM_004363.2	58	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign	566/703	42224052	5,13001	2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224052G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1696G>A	19.37:g.42224052G>A	ENSP00000221992:p.Ala566Thr					CEACAM5_uc002orj.1_Missense_Mutation_p.A565T	p.A566T	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1817	+			566			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1696G>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.014|0.014	-1.574856|-1.574856	0.00887|0.00887	4.54E-4|4.54E-4	3.49E-4|3.49E-4	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02916|.	4.11;4.11|.	2.54|2.54	-2.46|-2.46	0.06461|0.06461	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	N|N	0.03948|0.03948	-0.315|-0.315	0.09310|0.09310	N|N	1|1	B;B|.	0.16603|.	0.018;0.0|.	B;B|.	0.29524|.	0.103;0.004|.	T|T	0.29274|0.29274	-1.0017|-1.0017	9|5	0.02654|.	T|.	1|.	.|.	10.8788|10.8788	0.46927|0.46927	0.2632:0.0:0.7368:0.0|0.2632:0.0:0.7368:0.0	.|.	566;566|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	T|H	566;566;284|561	ENSP00000221992:A566T;ENSP00000385072:A566T|.	ENSP00000221992:A566T|.	A|R	+|+	1|2	0|0	CEACAM5|CEACAM5	46915892|46915892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-2.107000|-2.107000	0.01337|0.01337	-1.248000|-1.248000	0.02503|0.02503	-0.773000|-0.773000	0.03387|0.03387	GCA|CGC		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42224052	G	A	42224052	3	1	236	1	0	0	0	0	1	0	0	0	3195	1087	38	1	1722	1	CEACAM5	19	42224052	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	19377295	42224052	16904931	38	16666											
KLK11	11012	broad.mit.edu	37	chr19	51528895	51528895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatcctcatggcctggAggggggaggagcgggcccca	8	4	18	11	1	1	1	1	0	0	1	2	4	2	4	4	7	1	1	4	7	1	0			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:51528895A>G	ENST00000594768.1	-	2	274	c.89T>C	c.(88-90)cTc>cCc	p.L30P	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_5'UTR|KLK11_ENST00000391804.3_5'UTR|KLK11_ENST00000600362.1_5'UTR|KLK11_ENST00000453757.3_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	30						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATGGCCTGGAGGGGGGAGGA	0.627																																						uc002pvd.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(88-90)cTc>cCc		Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.							17	17	17					19																	51528895		2202	4298	6500	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51528895A>G	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.89T>C	19.37:g.51528895A>G	ENSP00000473047:p.Leu30Pro					KLK11_uc002pvc.4_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc010eom.3_5'UTR	p.L30P	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	1	201	-		all_neural(266;0.026)	30					O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.89T>C	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	N	11.35	1.611642	0.28712	.	.	ENSG00000167757	ENST00000319756	D	0.88354	-2.37	3.08	2.07	0.26955	.	.	.	.	.	D	0.86306	0.5901	L	0.34521	1.04	0.21386	N	0.999704	D	0.58970	0.984	P	0.54372	0.75	T	0.75706	-0.3224	9	0.54805	T	0.06	.	5.1794	0.15152	0.865:0.0:0.135:0.0	.	30	Q9UBX7	KLK11_HUMAN	P	30	ENSP00000324414:L30P	ENSP00000324414:L30P	L	-	2	0	KLK11	56220707	0.117000	0.22190	0.179000	0.23059	0.657000	0.38888	0.482000	0.22276	0.588000	0.29660	-0.253000	0.11424	CTC		0.627	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		G	51528895	A	G	51528895	3	3	236	1	0	0	0	0	1	0	0	0	8399	304	11	4	854	4	KLK11	19	51528895	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	9304843	51528895	7600088	39	16667											
LILRB2	10288	broad.mit.edu	37	chr19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaatactgacagccatatCgccctgtgtgttcccaggtg	8	12	10	11	1	0	1	0	1	0	0	2	1	1	1	3	1	2	2	3	1	3	4	rs145209585	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:54783717C>T	ENST00000391749.4	-	4	555	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.R95Q|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000314446.5_Missense_Mutation_p.R95Q|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.R95Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557																																						uc002qfb.3																			0		p.G94G(1)|p.R95*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(283-285)cGa>cAa		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	173	165	167		284,284	-3.5	0	19	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	95/598,95/599	54783717	2,13004	2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783717C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.284G>A	19.37:g.54783717C>T	ENSP00000375629:p.Arg95Gln					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R95Q|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R95Q|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	p.R95Q	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	550	-	Ovarian(34;0.19)		95			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.284G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	4.239	0.043215	0.08196	4.54E-4	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	1.76	-3.51	0.04696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.592300	0.04262	N	0.340541	T	0.06917	0.0176	N	0.21545	0.675	0.09310	N	0.999999	P;B;P	0.42692	0.787;0.428;0.456	B;B;B	0.29267	0.1;0.034;0.021	T	0.33954	-0.9848	10	0.25751	T	0.34	.	8.2437	0.31675	0.0:0.66:0.0:0.34	.	95;112;95	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	95	ENSP00000375628:R95Q;ENSP00000319960:R95Q;ENSP00000375629:R95Q;ENSP00000375626:R95Q	ENSP00000319960:R95Q	R	-	2	0	LILRB2	59475529	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.777000	0.00099	-1.280000	0.02402	-0.763000	0.03452	CGA		0.557	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54783717	C	T	54783717	3	4	236	1	0	0	0	0	1	0	0	0	8791	884	31	2	1556	2	LILRB2	19	54783717	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	3254822	54783717	4345266	40	16668											
SIRPG	55423	broad.mit.edu	37	chr20	1629729	1629729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagtgcctggtccagaCttaaactccacgttctcagg	9	11	8	13	1	2	1	2	0	2	1	6	1	4	1	3	2	2	1	3	2	2	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:1629729C>A	ENST00000303415.3	-	2	463	c.399G>T	c.(397-399)aaG>aaT	p.K133N	SIRPG_ENST00000381583.2_Missense_Mutation_p.K133N|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.K100N|SIRPG_ENST00000216927.4_Missense_Mutation_p.K133N|SIRPG_ENST00000344103.4_Missense_Mutation_p.K133N	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	133	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGGTCCAGACTTAAACTCCA	0.493																																						uc002wfm.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(397-399)aaG>aaT		Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.							210	185	193					20																	1629729		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629729C>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.399G>T	20.37:g.1629729C>A	ENSP00000305529:p.Lys133Asn					SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	p.K133N	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			1	464	-			133			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.399G>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401679	0.62288	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.384946	0.25058	N	0.033475	T	0.11196	0.0273	M	0.87328	2.875	0.31239	N	0.69539	D;D;D	0.76494	0.999;0.993;0.995	D;P;P	0.80764	0.994;0.873;0.907	T	0.01108	-1.1449	10	0.62326	D	0.03	.	7.3585	0.26733	0.0:1.0:0.0:0.0	.	133;133;133	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	N	100;133;133;133;133	ENSP00000370992:K100N;ENSP00000342759:K133N;ENSP00000305529:K133N;ENSP00000370995:K133N;ENSP00000216927:K133N	ENSP00000216927:K133N	K	-	3	2	SIRPG	1577729	0.326000	0.24669	0.998000	0.56505	0.530000	0.34684	0.103000	0.15292	1.392000	0.46585	0.195000	0.17529	AAG		0.493	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		A	1629729	C	A	1629729	3	1	236	1	0	0	0	0	1	0	0	0	14336	564	20	5	780	5	SIRPG	20	1629729	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		1629729	61395791	41	16669											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673751	3673751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccatggctctccaggaggTaggtcaggcgcaggttgcgg	6	7	17	11	3	2	0	1	0	1	0	3	1	2	1	2	7	1	4	2	7	1	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:3673751T>C	ENST00000344754.4	-	14	3535	c.3536A>G	c.(3535-3537)tAc>tGc	p.Y1179C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.Y1179C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1179	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCCAGGAGGTAGGTCAGGCG	0.682																																						uc002wja.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3535-3537)tAc>tGc		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							17	23	21					20																	3673751		2170	4271	6441	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673751T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3536A>G	20.37:g.3673751T>C	ENSP00000341141:p.Tyr1179Cys					SIGLEC1_uc002wiz.4_Missense_Mutation_p.Y1179C|SIGLEC1_uc002wjb.1_5'UTR	p.Y1179C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			13	3536	-			1179			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3536A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876000	0.51695	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.22743	1.97;1.94	4.83	2.37	0.29283	Immunoglobulin subtype (1);	0.222908	0.23142	N	0.051452	T	0.28067	0.0692	L	0.36672	1.1	0.34326	D	0.687172	D;D	0.76494	0.999;0.997	P;P	0.62298	0.885;0.9	T	0.30707	-0.9969	10	0.35671	T	0.21	.	9.092	0.36617	0.0:0.0:0.5122:0.4878	.	1179;1179	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	1179	ENSP00000341141:Y1179C;ENSP00000202578:Y1179C	ENSP00000202578:Y1179C	Y	-	2	0	SIGLEC1	3621751	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.683000	0.25349	0.810000	0.34279	0.533000	0.62120	TAC		0.682	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		C	3673751	T	C	3673751	3	2	236	1	0	0	0	0	1	0	0	0	14305	1638	57	4	1625	4	SIGLEC1	20	3673751	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08	2044022	3673751	59351769	42	16670											
NTSR1	4923	broad.mit.edu	37	chr20	61340984	61340984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggcgacgccggctgccGcggctactacttcctgcgcg	3	8	13	17	8	0	0	0	0	0	0	2	1	1	0	3	3	4	2	3	3	2	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:61340984G>A	ENST00000370501.3	+	1	796	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	142					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCGGCTGCCGCGGCTACTAC	0.677																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(424-426)cGc>cAc		Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.							40	45	44					20																	61340984		2199	4294	6493	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340984G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.425G>A	20.37:g.61340984G>A	ENSP00000359532:p.Arg142His						p.R142H	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		0	796	+	Breast(26;3.65e-08)		142					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.425G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450068	0.84101	.	.	ENSG00000101188	ENST00000370501	T	0.72942	-0.7	5.15	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.66439	2.03	0.36840	D	0.887342	P	0.48350	0.909	B	0.38842	0.283	T	0.69752	-0.5060	10	0.44086	T	0.13	-22.5692	8.8738	0.35332	0.2201:0.0:0.7799:0.0	.	142	P30989	NTR1_HUMAN	H	142	ENSP00000359532:R142H	ENSP00000359532:R142H	R	+	2	0	NTSR1	60811429	0.998000	0.40836	0.979000	0.43373	0.978000	0.69477	3.095000	0.50235	1.176000	0.42840	0.561000	0.74099	CGC		0.677	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			A	61340984	G	A	61340984	3	1	236	1	0	0	0	0	1	0	0	0	10710	1087	38	1	427	1	NTSR1	20	61340984	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	57667233	61340984	1684536	43	16671											
TBX1	6899	broad.mit.edu	37	chr22	19748718	19748718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacgcgaaggtggccGgtgtgagcgtgcagctagag	11	5	18	7	4	0	4	0	1	0	3	0	5	0	4	1	3	4	2	1	3	4	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:19748718G>T	ENST00000329705.7	+	3	454	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	TBX1_ENST00000332710.4_Missense_Mutation_p.G109C|TBX1_ENST00000359500.3_Missense_Mutation_p.G109C	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	109					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GAAGGTGGCCGGTGTGAGCGT	0.726																																						uc002zqa.1																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(325-327)Ggt>Tgt		Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.							46	31	36					22																	19748718		2201	4299	6500	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19748718G>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"T-boxes"	11592	protein-coding gene	gene with protein product		602054	"velocardiofacial syndrome"	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.325G>T	22.37:g.19748718G>T	ENSP00000331176:p.Gly109Cys					TBX1_uc002zqb.3_Missense_Mutation_p.G109C|TBX1_uc002zqc.3_Missense_Mutation_p.G109C	p.G109C	NM_080647	NP_542378	O43435	TBX1_HUMAN			2	454	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	109					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.325G>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736563	0.69304	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.87256	-2.16;-2.1;-2.23	3.46	1.28	0.21552	p53-like transcription factor, DNA-binding (1);	0.239138	0.40640	U	0.001050	D	0.83991	0.5374	N	0.19112	0.55	0.26678	N	0.971592	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.63192	0.861;0.912;0.912	T	0.75088	-0.3441	10	0.72032	D	0.01	.	6.2113	0.20631	0.7666:0.0:0.2334:0.0	.	109;109;109	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	C	109	ENSP00000331791:G109C;ENSP00000331176:G109C;ENSP00000352483:G109C	ENSP00000331176:G109C	G	+	1	0	TBX1	18128718	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.488000	0.45276	0.274000	0.22072	0.289000	0.19496	GGT		0.726	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		T	19748718	G	T	19748718	3	4	236	1	0	0	0	0	1	0	0	0	15647	1116	39	5	331	5	TBX1	22	19748718	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		19748718	31555848	44	16672											
LZTR1	8216	broad.mit.edu	37	chr22	21341825	21341825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaccccaccggccccccGttaccaccactcggccgtcg	5	5	10	21	5	0	0	0	0	0	0	2	1	0	1	9	3	1	1	9	3	1	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:21341825G>A	ENST00000215739.8	+	4	712	c.353G>A	c.(352-354)cGt>cAt	p.R118H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R99H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	118					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGGCCCCCCGTTACCACCAC	0.662																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(352-354)cGt>cAt		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							64	58	60					22																	21341825		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21341825G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.353G>A	22.37:g.21341825G>A	ENSP00000215739:p.Arg118His					LZTR1_uc002ztn.3_Missense_Mutation_p.R77H|LZTR1_uc011ahy.2_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	p.R118H	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	456	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	118					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.353G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319660	0.95682	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.73789	-0.6;-0.78	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	D	0.92471	0.5985	10	0.66056	D	0.02	-33.2925	16.4657	0.84078	0.0:0.0:1.0:0.0	.	99;118;77	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	H	77;118;99	ENSP00000215739:R118H;ENSP00000374006:R99H	ENSP00000215739:R118H	R	+	2	0	LZTR1	19671825	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.310000	0.96267	2.746000	0.94184	0.655000	0.94253	CGT		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		A	21341825	G	A	21341825	3	1	236	1	0	0	0	0	1	0	0	0	9137	1145	40	1	367	1	LZTR1	22	21341825	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	1593107	21341825	29962741	45	16673											
TFIP11	24144	broad.mit.edu	37	chr22	26890269	26890269	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgagccaagagcacagcAcctgccaaaaagaaaaatta	19	5	7	10	0	0	3	0	1	0	2	0	3	0	3	3	0	5	2	3	0	7	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:26890269A>C	ENST00000407690.1	-	14	2277	c.1994T>G	c.(1993-1995)gTg>gGg	p.V665G	TFIP11_ENST00000405938.1_Splice_Site_p.V665G|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407431.1_Splice_Site_p.V665G|TFIP11_ENST00000407148.1_Splice_Site_p.V665G	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	665					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAGCACAGCACCTGCCAAAA	0.463																																						uc003acr.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.e13-1		Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.							84	75	78					22																	26890269		2203	4300	6503	SO:0001630	splice_region_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890269A>C	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1993-1T>G	22.37:g.26890269A>C						TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Splice_Site_p.V665_splice|TFIP11_uc003act.2_Splice_Site_p.V665_splice	p.V665_splice	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			13	2367	-			665					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1993_splice	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430413	0.83776	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.3	5.3	0.74995	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.87617	2.895	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.83275	0.996;0.88	T	0.76921	-0.2780	10	0.56958	D	0.05	-46.0009	14.5888	0.68347	1.0:0.0:0.0:0.0	.	665;24	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	G	665;665;665;350;665	ENSP00000384421:V665G;ENSP00000383892:V665G;ENSP00000385861:V665G;ENSP00000384297:V665G	ENSP00000384297:V665G	V	-	2	0	TFIP11	25220269	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.803000	0.91915	2.235000	0.73313	0.533000	0.62120	GTG		0.463	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	Missense_Mutation	C	26890269	A	C	26890269	5	2	236	1	0	0	0	0	0	0	1	0	15804	173	6	5	527	5	TFIP11	22	26890269	Splice_Site	SNP	A	TCGA-32-4209-01A-01D-1353-08	5548444	26890269	24414297	46	16674											
NEFH	4744	broad.mit.edu	37	chr22	29886360	29886360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccagagaaggaggctCctgccaaggtggaggtgaag	11	4	15	11	0	0	2	0	1	0	1	1	5	1	4	5	5	1	1	5	5	3	0	rs376751999		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:29886360C>A	ENST00000310624.6	+	4	2764	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	917	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAGGCTCCTGCCAAGGT	0.502																																						uc003afo.3																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2731-2733)Cct>Act		Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.							58	62	61					22																	29886360		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29886360C>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2731C>A	22.37:g.29886360C>A	ENSP00000311997:p.Pro911Thr					KIAA0845_uc003afp.3_5'UTR	p.P911T	NM_021076	NP_066554	P12036	NFH_HUMAN			3	2802	+			917			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2731C>A	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	3.523	-0.097275	0.07010	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83335	-1.71	5.59	2.32	0.28847	.	0.122512	0.37715	N	0.001973	T	0.77253	0.4103	L	0.60455	1.87	0.31072	N	0.712866	B	0.19706	0.038	B	0.19391	0.025	T	0.75396	-0.3332	10	0.87932	D	0	.	7.3794	0.26847	0.0:0.4202:0.4565:0.1233	.	917	P12036	NFH_HUMAN	T	862;911	ENSP00000311997:P911T	ENSP00000311997:P911T	P	+	1	0	NEFH	28216360	0.001000	0.12720	0.968000	0.41197	0.056000	0.15407	0.162000	0.16501	0.829000	0.34733	0.655000	0.94253	CCT		0.502	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29886360	C	A	29886360	3	1	236	1	0	0	0	0	1	0	0	0	10314	855	30	5	2745	5	NEFH	22	29886360	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	2996091	29886360	21418206	47	16675											
DEPDC5	9681	broad.mit.edu	37	chr22	32275577	32275577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacttcgccagcttccagcGcaagtggtttgaggtggcct	6	10	13	12	3	0	1	0	1	0	0	2	2	1	1	3	3	2	3	3	3	1	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:32275577G>A	ENST00000382112.3	+	37	3915	c.3845G>A	c.(3844-3846)cGc>cAc	p.R1282H	DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1269H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1260H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A1177T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1291H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1191H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1291H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1260H|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R108H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1291					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTTCCAGCGCAAGTGGTTT	0.607																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3871-3873)cGc>cAc		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							79	80	80					22																	32275577		2105	4220	6325	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32275577G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3845G>A	22.37:g.32275577G>A	ENSP00000371546:p.Arg1282His					DEPDC5_uc011als.2_Missense_Mutation_p.R1191H|DEPDC5_uc003als.3_Missense_Mutation_p.R1260H|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1282H|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R709H|DEPDC5_uc003alw.3_Missense_Mutation_p.R558H|DEPDC5_uc011alx.2_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.3_Missense_Mutation_p.R286H|DEPDC5_uc011aly.2_Missense_Mutation_p.R108H	p.R1291H	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			37	4074	+			1260					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3872G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	28.1|28.1	4.894415|4.894415	0.91889|0.91889	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000382105|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T|T;T;T;T;T;T;T	0.33216|0.32753	1.42|1.44;1.87;1.87;1.81;1.87;1.81;1.87	5.72|5.72	4.71|4.71	0.59529|0.59529	.|Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.125555	.|0.52532	.|N	.|0.000077	T|T	0.45696|0.45696	0.1355|0.1355	L|L	0.44542|0.44542	1.39|1.39	0.48696|0.48696	D|D	0.999694|0.999694	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;0.999;0.998;0.998	.|P;D;D;P;P;P	.|0.69479	.|0.84;0.964;0.949;0.897;0.791;0.791	T|T	0.36792|0.36792	-0.9733|-0.9733	7|10	0.87932|0.48119	D|T	0|0.1	.|.	13.7768|13.7768	0.63059|0.63059	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|1291;1191;677;1269;1282;1260	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	T|H	1177|1191;1269;1260;1191;1291;1282;1291;1260;108	ENSP00000371539:A1177T|ENSP00000440210:R1191H;ENSP00000266091:R1269H;ENSP00000383108:R1260H;ENSP00000383105:R1291H;ENSP00000371546:R1282H;ENSP00000371545:R1291H;ENSP00000383107:R1260H	ENSP00000371539:A1177T|ENSP00000266091:R1269H	A|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30605577|30605577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.598000|7.598000	0.82745|0.82745	1.431000|1.431000	0.47355|0.47355	0.651000|0.651000	0.88453|0.88453	GCA|CGC		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		A	32275577	G	A	32275577	3	1	236	1	0	0	0	0	1	0	0	0	4442	1087	38	1	4009	1	DEPDC5	22	32275577	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	2389217	32275577	19028989	48	16676											
PRAMEF10	343071	broad.mit.edu	37	chr1	12955489	12955489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagggatcccagagggaGgctgaggaagggccaggcct	10	4	17	10	0	1	2	1	1	0	1	2	5	2	5	3	6	0	1	3	6	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:12955489G>A	ENST00000235347.4	-	2	269	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	64					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGAGGGAGGCTGAGGAAG	0.587																																						uc001auo.3																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(190-192)Ctc>Ttc		Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.							84	77	79					1																	12955489		2126	3831	5957	SO:0001583	missense	343071							g.chr1:12955489G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.190C>T	1.37:g.12955489G>A	ENSP00000235347:p.Leu64Phe						p.L64F	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	263	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	64					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.190C>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.992341	0.35131	.	.	ENSG00000187545	ENST00000235347	T	0.14391	2.51	1.99	1.99	0.26369	.	0.000000	0.64402	D	0.000003	T	0.37320	0.0999	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04900	-1.0919	10	0.72032	D	0.01	.	7.5431	0.27751	0.0:0.0:1.0:0.0	.	64	O60809	PRA10_HUMAN	F	64	ENSP00000235347:L64F	ENSP00000235347:L64F	L	-	1	0	PRAMEF10	12878076	0.759000	0.28416	0.046000	0.18839	0.011000	0.07611	1.740000	0.38228	1.431000	0.47355	0.400000	0.26472	CTC		0.587	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		A	12955489	G	A	12955489	3	1	237	1	0	0	0	0	1	0	0	0	12426	1000	35	3	1246	3	PRAMEF10	1	12955489	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		12955489	236295132	1	16677											
CASP9	842	broad.mit.edu	37	chr1	15844698	15844698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctggtctgagcaccaCtggggtaaggttttctaggg	8	12	13	8	0	3	1	0	1	3	0	4	1	3	1	1	5	1	3	1	5	3	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:15844698C>A	ENST00000333868.5	-	2	419	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.V109L|CASP9_ENST00000375890.4_Missense_Mutation_p.V26L|CASP9_ENST00000348549.5_Missense_Mutation_p.V109L	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	109					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGAGCACCACTGGGGTAAGG	0.517																																						uc001awn.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(325-327)Gtg>Ttg		Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.							120	105	110					1																	15844698		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844698C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.325G>T	1.37:g.15844698C>A	ENSP00000330237:p.Val109Leu					CASP9_uc001awm.2_Missense_Mutation_p.V109L|CASP9_uc001awo.3_Missense_Mutation_p.V109L|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.V26L	p.V109L	NM_001229	NP_127463	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	1	570	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	109					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.325G>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161879	0.57368	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T;T	0.09255	4.63;4.66;3.0;4.43;3.7;3.62	4.59	2.46	0.29980	.	3.449480	0.00447	N	0.000083	T	0.21761	0.0524	L	0.52573	1.65	0.09310	N	1	B;B;D	0.62365	0.002;0.047;0.991	B;B;P	0.56434	0.002;0.017;0.798	T	0.10660	-1.0620	10	0.28530	T	0.3	.	6.661	0.23014	0.1885:0.5446:0.2669:0.0	.	109;109;109	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	L	109;109;109;26;26;109	ENSP00000449584:V109L;ENSP00000330237:V109L;ENSP00000255256:V109L;ENSP00000365051:V26L;ENSP00000396540:V26L;ENSP00000411304:V109L	ENSP00000330237:V109L	V	-	1	0	CASP9	15717285	0.016000	0.18221	0.017000	0.16124	0.585000	0.36419	0.786000	0.26844	1.182000	0.42928	0.514000	0.50259	GTG		0.517	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		A	15844698	C	A	15844698	3	1	237	1	0	0	0	0	1	0	0	0	2679	565	20	5	957	5	CASP9	1	15844698	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	2889209	15844698	233405923	2	16678											
MYOM3	127294	broad.mit.edu	37	chr1	24409117	24409117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgatgggctcggtggcGgctgagctctcgcctacccc	4	8	13	16	3	1	2	0	2	1	0	3	2	1	2	4	4	2	3	4	4	1	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:24409117G>A	ENST00000374434.3	-	17	2220	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	MYOM3_ENST00000329601.7_Silent_p.A686A|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.A687A|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	686	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCGGTGGCGGCTGAGCTCT	0.622																																						uc001bin.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2056-2058)gcC>gcT		Homo sapiens myomesin family, member 3 (MYOM3), mRNA.							41	48	46					1																	24409117		2082	4195	6277	SO:0001819	synonymous_variant	127294							g.chr1:24409117G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2058C>T	1.37:g.24409117G>A						MYOM3_uc001bim.4_Silent_p.A343A|MYOM3_uc001bio.3_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR	p.A686A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	16	2221	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	686			Fibronectin type-III 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.2058C>T	CCDS41281.1																																																																																				0.622	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		A	24409117	G	A	24409117	2	1	237	1	0	0	0	0	0	0	0	1	10093	1103	39	2		2	MYOM3	1	24409117	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	8564419	24409117	224841504	3	16679											
C8B	732	broad.mit.edu	37	chr1	57425758	57425758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacagctcacaatcaatggGcatcagggtaacatccacac	15	6	8	12	0	3	1	3	0	0	1	4	1	4	1	1	2	2	3	1	2	3	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:57425758G>A	ENST00000371237.4	-	2	250	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_Missense_Mutation_p.P10S|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	62					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CAATCAATGGGCATCAGGGTA	0.498																																						uc001cyp.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(184-186)Ccc>Tcc		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.							172	140	151					1																	57425758		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425758G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.184C>T	1.37:g.57425758G>A	ENSP00000360281:p.Pro62Ser					C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.P10S	p.P62S	NM_000066	NP_000057	P07358	CO8B_HUMAN			1	251	-			62					A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.184C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750257	0.69533	.	.	ENSG00000021852	ENST00000371237;ENST00000543257	T;T	0.34072	1.38;1.46	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.921	T	0.58092	-0.7697	10	0.51188	T	0.08	-8.1555	17.777	0.88511	0.0:0.0:1.0:0.0	.	10;62	F5H7G1;P07358	.;CO8B_HUMAN	S	62;10	ENSP00000360281:P62S;ENSP00000442548:P10S	ENSP00000360281:P62S	P	-	1	0	C8B	57198346	1.000000	0.71417	0.964000	0.40570	0.436000	0.31835	7.161000	0.77505	2.681000	0.91329	0.563000	0.77884	CCC		0.498	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57425758	G	A	57425758	3	1	237	1	0	0	0	0	1	0	0	0	2417	1203	42	3	1635	3	C8B	1	57425758	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	33016641	57425758	191824863	4	16680											
DEPDC1	55635	broad.mit.edu	37	chr1	68948414	68948414	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtctctcagtagaatcTgattcttctttgtttttttc	6	22	6	7	0	5	2	1	1	4	1	7	2	5	2	0	0	0	3	0	0	3	8			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:68948414T>C	ENST00000456315.2	-	8	1191	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	359					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAGTAGAATCTGATTCTTCTT	0.343																																						uc001dem.4																			0		p.T358T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1075-1077)tcA>tcG		Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.							100	86	90					1																	68948414		1568	3581	5149	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948414T>C	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1077A>G	1.37:g.68948414T>C						DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron	p.S359S	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	7	1194	-			359					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.1077A>G	CCDS44159.1																																																																																				0.343	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		C	68948414	T	C	68948414	2	2	237	1	0	0	0	0	0	0	0	1	4439	1567	55	4		4	DEPDC1	1	68948414	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	11522656	68948414	180302207	5	16681											
MAGI3	260425	broad.mit.edu	37	chr1	114225544	114225544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatattaataatccttcGtcttcaaatgtgatttatga	12	17	7	5	1	2	2	1	2	1	0	4	3	3	3	1	1	0	0	1	1	5	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:114225544G>A	ENST00000307546.9	+	21	3429	c.3354G>A	c.(3352-3354)tcG>tcA	p.S1118S	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1143	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.S1118S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATCCTTCGTCTTCAAATG	0.318																																						uc001edk.3																			1	Substitution - coding silent(1)	p.S1118S(1)	endometrium(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3352-3354)tcG>tcA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							39	37	38					1																	114225544		1568	3582	5150	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114225544G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3354G>A	1.37:g.114225544G>A						MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	p.S1118S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3535	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1143			PDZ 6.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3354G>A	CCDS44196.1																																																																																				0.318	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		A	114225544	G	A	114225544	2	1	237	1	0	0	0	0	0	0	0	1	9192	1132	40	1		1	MAGI3	1	114225544	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	45277130	114225544	135025077	6	16682											
AQP10	89872	broad.mit.edu	37	chr1	154296100	154296100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgattgtggggctcttGgccatcctggacagacggaa	8	10	14	9	1	1	2	0	1	1	1	2	4	2	4	2	5	1	2	2	5	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:154296100G>C	ENST00000324978.3	+	5	565	c.525G>C	c.(523-525)ttG>ttC	p.L175F	AQP10_ENST00000484864.1_Missense_Mutation_p.L175F|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	175					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGGCTCTTGGCCATCCTGG	0.607																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(523-525)ttG>ttC		Homo sapiens aquaporin 10 (AQP10), mRNA.							139	143	142					1																	154296100		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296100G>C	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.525G>C	1.37:g.154296100G>C	ENSP00000318355:p.Leu175Phe					ATP8B2_uc001few.3_5'Flank	p.L175F	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	565	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		175					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.525G>C	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324897	0.24080	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.83992	-1.79;-1.79	4.9	-1.78	0.07957	Aquaporin-like (2);	0.083405	0.49305	D	0.000154	T	0.41096	0.1144	N	0.12637	0.245	0.34387	D	0.693756	B;P	0.34864	0.007;0.473	B;B	0.32090	0.017;0.14	T	0.11567	-1.0582	10	0.18276	T	0.48	.	6.907	0.24315	0.3557:0.0:0.5272:0.117	.	175;175	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	F	175	ENSP00000318355:L175F;ENSP00000420341:L175F	ENSP00000318355:L175F	L	+	3	2	AQP10	152562724	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.670000	0.37502	-0.136000	0.11475	-0.355000	0.07637	TTG		0.607	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		C	154296100	G	C	154296100	3	2	237	1	0	0	0	0	1	0	0	0	822	1339	47	5	543	5	AQP10	1	154296100	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	40070556	154296100	94954521	7	16683											
MPZL1	9019	broad.mit.edu	37	chr1	167734984	167734984	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggccgacactactgtgTcggtaagaatgcttgacttc	9	10	13	9	2	0	2	0	1	0	1	2	3	0	2	1	3	2	2	1	3	3	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:167734984T>G	ENST00000359523.2	+	2	458	c.256T>G	c.(256-258)Tcg>Gcg	p.S86A	MPZL1_ENST00000474859.1_Missense_Mutation_p.S86A|MPZL1_ENST00000392121.3_Missense_Mutation_p.S86A	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	86	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CACTACTGTGTCGGTAAGAAT	0.483																																						uc001geo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(256-258)Tcg>Gcg		Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.							43	41	42					1																	167734984		2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167734984T>G	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.256T>G	1.37:g.167734984T>G	ENSP00000352513:p.Ser86Ala					MPZL1_uc001gen.4_Missense_Mutation_p.S86A|MPZL1_uc001gep.3_Missense_Mutation_p.S86A|MPZL1_uc001geq.3_Missense_Mutation_p.S86A|MPZL1_uc009wvh.3_Non-coding_Transcript	p.S86A	NM_003953	NP_003944	O95297	MPZL1_HUMAN			1	458	+	all_hematologic(923;0.215)		86			Ig-like V-type.		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.256T>G	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.248213	0.39697	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94376	-0.11;-3.41;-0.11;-0.11	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.304502	0.31909	N	0.006874	D	0.92241	0.7539	L	0.59436	1.845	0.33470	D	0.586077	D;D;D	0.64830	0.994;0.967;0.966	D;P;P	0.63283	0.913;0.775;0.892	D	0.90021	0.4128	9	0.18710	T	0.47	.	10.32	0.43760	0.1471:0.0:0.0:0.8529	.	86;86;86	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	A	86;86;86;60	ENSP00000352513:S86A;ENSP00000375968:S86A;ENSP00000420455:S86A;ENSP00000356827:S60A	ENSP00000352513:S86A	S	+	1	0	MPZL1	166001608	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	1.495000	0.35627	2.113000	0.64589	0.533000	0.62120	TCG		0.483	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		G	167734984	T	G	167734984	3	3	237	1	0	0	0	0	1	0	0	0	9749	1667	58	5	262	5	MPZL1	1	167734984	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	13438884	167734984	81515637	8	16684											
JMJD4	65094	broad.mit.edu	37	chr1	227922480	227922480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttcgagttgtattcCtggaccccacagtttgcaac	7	13	11	10	1	0	0	0	0	0	0	2	2	1	1	3	3	2	5	3	3	2	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:227922480C>A	ENST00000366758.3	-	2	437	c.438G>T	c.(436-438)caG>caT	p.Q146H	SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'Flank|JMJD4_ENST00000438896.2_Missense_Mutation_p.Q146H	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	146										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGTTGTATTCCTGGACCCCAC	0.552																																						uc001hrb.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(436-438)caG>caT		Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.							224	184	197					1																	227922480		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227922480C>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.438G>T	1.37:g.227922480C>A	ENSP00000355720:p.Gln146His					SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.3_Missense_Mutation_p.Q146H	p.Q146H	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN			1	438	-		Prostate(94;0.0885)	146					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.438G>T	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.83|15.83	2.950248|2.950248	0.53186|0.53186	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.15952|.	2.38|.	4.08|4.08	-0.126|-0.126	0.13515|0.13515	.|.	0.224865|.	0.43747|.	D|.	0.000530|.	T|T	0.38931|0.38931	0.1059|0.1059	L|L	0.46157|0.46157	1.445|1.445	0.21762|0.21762	N|N	0.99955|0.99955	P;P|.	0.43788|.	0.817;0.783|.	P;P|.	0.53450|.	0.693;0.726|.	T|T	0.33624|0.33624	-0.9861|-0.9861	10|5	0.49607|.	T|.	0.09|.	-11.0109|-11.0109	9.5456|9.5456	0.39279|0.39279	0.0:0.5676:0.0:0.4324|0.0:0.5676:0.0:0.4324	.|.	146;146|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	H|M	146|139	ENSP00000355720:Q146H|.	ENSP00000355720:Q146H|.	Q|R	-|-	3|2	2|0	JMJD4|JMJD4	225989103|225989103	0.804000|0.804000	0.28969|0.28969	0.059000|0.059000	0.19551|0.19551	0.966000|0.966000	0.64601|0.64601	0.678000|0.678000	0.25277|0.25277	-0.370000|-0.370000	0.08016|0.08016	-1.164000|-1.164000	0.01763|0.01763	CAG|AGG		0.552	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		A	227922480	C	A	227922480	3	1	237	1	0	0	0	0	1	0	0	0	7951	680	24	5	973	5	JMJD4	1	227922480	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	60187496	227922480	21328141	9	16685											
CAD	790	broad.mit.edu	37	chr2	27449783	27449783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcgatgggaccttagcaAgttcctgcgagtcagcacaa	10	9	10	12	2	1	0	1	0	0	0	4	3	3	1	3	1	3	3	3	1	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:27449783A>G	ENST00000403525.1	+	14	2195	c.2051A>G	c.(2050-2052)aAg>aGg	p.K684R	CAD_ENST00000264705.4_Missense_Mutation_p.K747R			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTAGCAAGTTCCTGCGA	0.562																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2239-2241)aAg>aGg		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						123	125	124					2																	27449783		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449783A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2051A>G	2.37:g.27449783A>G	ENSP00000384510:p.Lys684Arg					CAD_uc010eyw.3_Missense_Mutation_p.K684R	p.K747R	NM_004341	NP_004332	P27708	PYR1_HUMAN			14	2402	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		747			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2240A>G		.	.	.	.	.	.	.	.	.	.	A	17.15	3.314902	0.60524	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96073	-3.9;-3.9	4.38	4.38	0.52667	ATP-grasp fold, subdomain 2 (1);	0.047350	0.85682	N	0.000000	D	0.97682	0.9240	M	0.88775	2.98	0.80722	D	1	D;B	0.89917	1.0;0.017	D;B	0.97110	1.0;0.024	D	0.97679	1.0171	10	0.45353	T	0.12	1.0823	12.5967	0.56474	1.0:0.0:0.0:0.0	.	684;747	F8VPD4;P27708	.;PYR1_HUMAN	R	747;684	ENSP00000264705:K747R;ENSP00000384510:K684R	ENSP00000264705:K747R	K	+	2	0	CAD	27303287	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.673000	0.68109	1.849000	0.53698	0.397000	0.26171	AAG		0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			G	27449783	A	G	27449783	3	3	237	1	0	0	0	0	1	0	0	0	2565	72	3	4	2298	4	CAD	2	27449783	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08		27449783	215749590	10	16686											
DPP10	57628	broad.mit.edu	37	chr2	116548668	116548668	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttacagaatattttataTtggaaagcaattctatgctg	13	16	8	4	0	1	1	0	0	1	1	1	2	1	2	0	2	3	3	0	2	8	9			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:116548668T>A	ENST00000410059.1	+	18	2023	c.1543T>A	c.(1543-1545)Ttg>Atg	p.L515M	DPP10_ENST00000409163.1_Missense_Mutation_p.L465M|DPP10_ENST00000393147.2_Missense_Mutation_p.L519M|DPP10_ENST00000310323.8_Missense_Mutation_p.L508M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	515						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTTTATATTGGAAAGCAA	0.328																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1555-1557)Ttg>Atg		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							54	56	56					2																	116548668		2201	4297	6498	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548668T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1543T>A	2.37:g.116548668T>A	ENSP00000386565:p.Leu515Met					DPP10_uc002tla.2_Missense_Mutation_p.L515M|DPP10_uc002tlb.2_Missense_Mutation_p.L465M|DPP10_uc002tlc.2_Missense_Mutation_p.L511M|DPP10_uc002tlf.2_Missense_Mutation_p.L508M	p.L519M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			17	1576	+			515					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1555T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484716	0.63962	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.54	4.39	0.52855	.	0.358790	0.26616	N	0.023381	T	0.55689	0.1936	M	0.71036	2.16	0.42581	D	0.993217	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.994	T	0.56896	-0.7903	10	0.54805	T	0.06	-11.9144	9.3771	0.38290	0.0:0.0796:0.0:0.9204	.	508;519;511;515	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	515;465;519;508;465	ENSP00000386565:L515M;ENSP00000387038:L465M;ENSP00000376855:L519M;ENSP00000309066:L508M	ENSP00000309066:L508M	L	+	1	2	DPP10	116265138	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.529000	0.35996	1.123000	0.41961	0.528000	0.53228	TTG		0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116548668	T	A	116548668	3	1	237	1	0	0	0	0	1	0	0	0	4727	1490	52	5	1784	5	DPP10	2	116548668	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	89098885	116548668	126650705	11	16687											
YSK4	80122	broad.mit.edu	37	chr2	135744775	135744775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcttaatgggaccttcaGtagaaatcacaaaattctga	15	11	8	7	0	3	2	2	1	1	1	3	3	3	3	1	2	0	2	1	2	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:135744775G>A	ENST00000375845.3	-	7	1697	c.1667C>T	c.(1666-1668)aCt>aTt	p.T556I	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T443I|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.T573I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	556							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGGACCTTCAGTAGAAATCAC	0.428																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1666-1668)aCt>aTt		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							122	123	122					2																	135744775		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744775G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1667C>T	2.37:g.135744775G>A	ENSP00000365005:p.Thr556Ile					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T284I|YSK4_uc002tui.4_Missense_Mutation_p.T573I	p.T556I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1698	-			556					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1667C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.262738	0.00021	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.66815	-0.21;-0.23;2.15	5.28	-4.76	0.03229	.	1.265710	0.05530	N	0.563803	T	0.28566	0.0707	N	0.02011	-0.69	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.21449	-1.0245	10	0.06757	T	0.87	.	2.0362	0.03540	0.4088:0.1207:0.306:0.1645	.	443;573;556	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	556;443;573	ENSP00000365005:T556I;ENSP00000351140:T443I;ENSP00000376647:T573I	ENSP00000351140:T443I	T	-	2	0	YSK4	135461245	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.440000	0.02412	-1.152000	0.02832	-0.751000	0.03497	ACT		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135744775	G	A	135744775	3	1	237	1	0	0	0	0	1	0	0	0	17492	1029	36	3	2335	3	YSK4	2	135744775	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	19196107	135744775	107454598	12	16688											
FAP	2191	broad.mit.edu	37	chr2	163055364	163055365	+	Missense_Mutation	DNP	GC	GC	AA																															tggcaagtaacacacttcttGcttggaggatagcttccaat																										TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:163055364_163055365GC>AA	ENST00000188790.4	-	16	1511_1512	c.1304_1305GC>TT	c.(1303-1305)aGC>aTT	p.S435I	FAP_ENST00000443424.1_Missense_Mutation_p.S410I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACACTTCTTGCTTGGAGGATA	0.371																																						uc002ucd.3																			0		p.P434P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1303-1305)agc>aTT		Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.																																				SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163055364_163055365GC>AA	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1304_1305delinsAA	2.37:g.163055364_163055365delinsAA	ENSP00000188790:p.Ser435Ile					FAP_uc010fpc.3_5'UTR|FAP_uc010zct.2_Missense_Mutation_p.S410I	p.S435I	NM_004460	NP_004451	Q12884	SEPR_HUMAN			15	1512_1513	-			435						Missense_Mutation	DNP	ENST00000188790.4	37	c.1304_1305GC>TT	CCDS33311.1																																																																																				0.371	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			AA	163055365	GC	AA	163055364	3	1	237	1	0	0	0	0	1	0	0	0	5673	1310	46	3	1021	3	FAP	2	163055364	Missense_Mutation	DNP	GC	TCGA-32-4210-01A-01D-1353-08	27310589	163055364	80144009	13	16689											
TTN	7273	broad.mit.edu	37	chr2	179421857	179421857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatatcagtgatacgaaCatttcttgggggttctgtgg	10	14	12	5	1	3	2	1	2	2	0	3	3	3	2	0	3	2	1	0	3	4	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179421857C>T	ENST00000591111.1	-	280	83325	c.83101G>A	c.(83101-83103)Gtt>Att	p.V27701I	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20402I|TTN_ENST00000460472.2_Missense_Mutation_p.V20277I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20469I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V29342I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26774I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27701	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATACGAACATTTCTTGGG	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80320-80322)Gtt>Att		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							47	44	45					2																	179421857		1866	4101	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179421857C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83101G>A	2.37:g.179421857C>T	ENSP00000465570:p.Val27701Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V20469I|TTN_uc021vta.1_Missense_Mutation_p.V20402I|TTN_uc021vtb.1_Missense_Mutation_p.V20277I	p.V26774I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		278	80545	-			27701			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80320G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531272	0.27387	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.81	3.01	0.34805	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39759	0.1090	N	0.25992	0.78	0.41900	D	0.990411	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.28073	-1.0055	9	0.87932	D	0	.	3.8534	0.08965	0.1233:0.5063:0.239:0.1314	.	20277;20402;20469;27701	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26774;20277;20469;20402;20274	ENSP00000343764:V26774I;ENSP00000434586:V20277I;ENSP00000340554:V20469I;ENSP00000352154:V20402I	ENSP00000340554:V20469I	V	-	1	0	TTN	179130103	0.011000	0.17503	0.996000	0.52242	0.998000	0.95712	-0.288000	0.08377	0.453000	0.26858	0.655000	0.94253	GTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179421857	C	T	179421857	3	4	237	1	0	0	0	0	1	0	0	0	16732	478	17	3	20087	3	TTN	2	179421857	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	16366493	179421857	63777516	14	16690											
TTN	7273	broad.mit.edu	37	chr2	179483569	179483569	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttggtcagctgtcttgaTttttggtgcagctagtgaga	6	16	13	6	0	3	2	1	2	2	1	3	3	3	2	0	2	3	3	0	2	1	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179483569T>A	ENST00000591111.1	-	201	42009	c.41785A>T	c.(41785-41787)Atc>Ttc	p.I13929F	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I6630F|TTN_ENST00000460472.2_Missense_Mutation_p.I6505F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I6697F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I15570F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13002F			Q8WZ42	TITIN_HUMAN	titin	13929	Ig-like 95.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTCTTGATTTTTGGTGCA	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39004-39006)Atc>Ttc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84	83	83					2																	179483569		1952	4139	6091	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483569T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41785A>T	2.37:g.179483569T>A	ENSP00000465570:p.Ile13929Phe					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I6697F|TTN_uc021vta.1_Missense_Mutation_p.I6630F|TTN_uc021vtb.1_Missense_Mutation_p.I6505F	p.I13002F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		199	39229	-			13929			Ig-like 86.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39004A>T		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088335	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.48	5.48	0.80851	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75693	0.3884	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.78201	-0.2296	9	0.87932	D	0	.	15.8734	0.79141	0.0:0.0:0.0:1.0	.	6505;6630;6697;13929	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	13002;6505;6697;6630;6505	ENSP00000343764:I13002F;ENSP00000434586:I6505F;ENSP00000340554:I6697F;ENSP00000352154:I6630F	ENSP00000340554:I6697F	I	-	1	0	TTN	179191814	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.606000	0.82863	2.204000	0.70986	0.528000	0.53228	ATC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179483569	T	A	179483569	3	1	237	1	0	0	0	0	1	0	0	0	16732	1493	52	5	61433	5	TTN	2	179483569	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	61712	179483569	63715804	15	16691											
TTN	7273	broad.mit.edu	37	chr2	179485012	179485012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctttctctctggagagctgGcaggagaagacagcgtcatc	9	9	13	10	1	3	3	1	0	2	3	5	5	3	3	0	3	2	3	0	3	1	1	rs368200299		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179485012G>A	ENST00000591111.1	-	198	41537	c.41313C>T	c.(41311-41313)tgC>tgT	p.C13771C	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.C6472C|TTN_ENST00000460472.2_Silent_p.C6347C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.C6539C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.C15412C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.C12844C			Q8WZ42	TITIN_HUMAN	titin	13771	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGAGCTGGCAGGAGAAGA	0.418																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(38530-38532)tgC>tgT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	0,3736		0,0,1868	94	92	93		19041,38532,19416,19617	2.7	1	2		93	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	,,,	6347/26927,12844/33424,6472/27052,6539/27119	179485012	1,11955	1868	4110	5978	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485012G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41313C>T	2.37:g.179485012G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.C6539C|TTN_uc021vta.1_Silent_p.C6472C|TTN_uc021vtb.1_Silent_p.C6347C	p.C12844C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		196	38757	-			13771			Ig-like 85.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.38532C>T																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179485012	G	A	179485012	2	1	237	1	0	0	0	0	0	0	0	1	16732	1195	42	3		3	TTN	2	179485012	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	1443	179485012	63714361	16	16692											
FGD5	152273	broad.mit.edu	37	chr3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggtggcctggttcccGcggacaggaagaacaccagc	10	4	15	12	2	0	2	0	0	0	2	1	4	1	4	3	5	2	1	3	5	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1417-1419)Gcg>Acg		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							42	47	45					3																	14861995		1988	4153	6141	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861995G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1417G>A	3.37:g.14861995G>A	ENSP00000285046:p.Ala473Thr					FGD5_uc011avk.2_Missense_Mutation_p.A473T	p.A473T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1527	+			473					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1417G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113079	0.20795	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.74315	-0.83;-0.69	5.01	-5.58	0.02512	.	2.684210	0.01577	N	0.020854	T	0.40694	0.1127	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33854	-0.9852	10	0.44086	T	0.13	2.2389	2.6615	0.05028	0.4363:0.301:0.1636:0.0991	.	232;473	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	473;232	ENSP00000285046:A473T;ENSP00000445949:A232T	ENSP00000285046:A473T	A	+	1	0	FGD5	14836999	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.245000	0.08890	-1.022000	0.03346	-0.218000	0.12543	GCG		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14861995	G	A	14861995	3	1	237	1	0	0	0	0	1	0	0	0	5836	1087	38	1	1419	1	FGD5	3	14861995	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		14861995	183160435	17	16693											
ZBED2	79413	broad.mit.edu	37	chr3	111312849	111312849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggatggtgcccagcaCgagcaggagctaggtggaaa	10	6	18	7	1	0	0	0	0	0	0	0	4	0	3	1	6	4	4	1	6	2	2	rs370143176		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:111312849C>T	ENST00000317012.4	-	2	1208	c.200G>A	c.(199-201)cGt>cAt	p.R67H	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	67							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						GTGCCCAGCACGAGCAGGAGC	0.612													C|||	1	0.000199681	0	0	5008	,	,		19447	0		0	False		,,,				2504	0.001					uc003dxy.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(199-201)cGt>cAt		Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.		C	,HIS/ARG,	0,4406		0,0,2203	112	111	111		,200,	-1.2	0.2	3		111	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	CD96,ZBED2	NM_005816.4,NM_024508.4,NM_198196.2	,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,	,67/219,	111312849	1,13005	2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312849C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.200G>A	3.37:g.111312849C>T	ENSP00000321370:p.Arg67His					CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R67H	p.R67H	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN			1	1101	-			67					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.200G>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413531	0.62511	0.0	1.16E-4	ENSG00000177494	ENST00000317012	.	.	.	4.26	-1.19	0.09585	Zinc finger, BED-type predicted (3);	0.000000	0.43260	U	0.000600	T	0.21921	0.0528	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.11817	-1.0572	9	0.72032	D	0.01	-3.8444	3.9546	0.09383	0.0:0.3225:0.1883:0.4892	.	67	Q9BTP6	ZBED2_HUMAN	H	67	.	ENSP00000321370:R67H	R	-	2	0	ZBED2	112795539	0.000000	0.05858	0.231000	0.23993	0.936000	0.57629	-0.557000	0.05985	0.166000	0.19597	0.563000	0.77884	CGT		0.612	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		T	111312849	C	T	111312849	3	4	237	1	0	0	0	0	1	0	0	0	17515	536	19	1	460	1	ZBED2	3	111312849	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	96450854	111312849	86709581	18	16694											
MFI2	4241	broad.mit.edu	37	chr3	196735736	196735736	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcccacacacttgttGcggccctgctcgtcccccac	4	10	8	19	2	0	0	0	0	0	0	2	0	1	0	4	1	3	3	4	1	0	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:196735736G>C	ENST00000296350.5	-	12	1739	c.1626C>G	c.(1624-1626)cgC>cgG	p.R542R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	542	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACACTTGTTGCGGCCCTGCT	0.642																																						uc003fxk.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1624-1626)cgC>cgG		Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.							106	95	99					3																	196735736		2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735736G>C		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1626C>G	3.37:g.196735736G>C							p.R542R	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1740	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		542			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1626C>G	CCDS3325.1																																																																																				0.642	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			C	196735736	G	C	196735736	2	2	237	1	0	0	0	0	0	0	0	1	9522	1306	46	5		5	MFI2	3	196735736	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	85422887	196735736	1286694	19	16695											
ARAP2	116984	broad.mit.edu	37	chr4	36231022	36231022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtagtaaaaccagaCtcatggaaatgtaagagata	18	9	8	6	0	2	2	2	0	0	2	2	4	2	3	1	1	1	3	1	1	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:36231022C>G	ENST00000303965.4	-	2	576	c.87G>C	c.(85-87)gaG>gaC	p.E29D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	29	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAACCAGACTCATGGAAAT	0.393																																						uc003gsq.2																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(85-87)gaG>gaC		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.							69	73	72					4																	36231022		2202	4300	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36231022C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.87G>C	4.37:g.36231022C>G	ENSP00000302895:p.Glu29Asp					ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	p.E29D	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			1	425	-			29			SAM.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.87G>C	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	7.489	0.650183	0.14516	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.71103	-0.54;-0.54	5.79	0.726	0.18248	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	1.059750	0.07321	N	0.877607	T	0.61788	0.2375	L	0.44542	1.39	0.24776	N	0.992846	B	0.06786	0.001	B	0.12156	0.007	T	0.53287	-0.8460	10	0.72032	D	0.01	.	6.7595	0.23532	0.0:0.3489:0.3548:0.2963	.	29	Q8WZ64	ARAP2_HUMAN	D	29	ENSP00000302895:E29D;ENSP00000422731:E29D	ENSP00000302895:E29D	E	-	3	2	ARAP2	35907417	0.534000	0.26362	0.736000	0.30914	0.205000	0.24178	-0.293000	0.08320	0.036000	0.15547	0.644000	0.83932	GAG		0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		G	36231022	C	G	36231022	3	3	237	1	0	0	0	0	1	0	0	0	839	564	20	5	5155	5	ARAP2	4	36231022	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		36231022	154923254	20	16696											
RBM47	54502	broad.mit.edu	37	chr4	40440160	40440160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcgatcatgaggttgcGcacgtagaggatcttcacgg	8	10	14	9	4	4	2	2	1	2	1	5	4	4	3	0	4	1	3	0	4	1	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:40440160G>A	ENST00000381793.2	-	3	1147	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RBM47_ENST00000381795.6_Missense_Mutation_p.R251C|RBM47_ENST00000514014.1_Missense_Mutation_p.R213C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R251C|RBM47_ENST00000319592.4_Missense_Mutation_p.R251C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	251	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGAGGTTGCGCACGTAGAGG	0.617																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(751-753)Cgc>Tgc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							128	108	115					4																	40440160		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440160G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.751C>T	4.37:g.40440160G>A	ENSP00000371212:p.Arg251Cys					RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	p.R251C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1461	-			251			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.751C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280965	0.59758	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.58	3.65	0.41850	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.095361	0.64402	D	0.000002	D	0.85613	0.5737	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88054	0.2789	10	0.87932	D	0	-18.7614	15.0807	0.72113	0.0:0.0:0.6753:0.3247	.	251;251	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	251;251;251;251;213	ENSP00000320108:R251C;ENSP00000371212:R251C;ENSP00000371214:R251C;ENSP00000295971:R251C;ENSP00000423243:R213C	ENSP00000295971:R251C	R	-	1	0	RBM47	40134917	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.377000	0.44300	1.348000	0.45733	0.462000	0.41574	CGC		0.617	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		A	40440160	G	A	40440160	3	1	237	1	0	0	0	0	1	0	0	0	13141	1087	38	1	1046	1	RBM47	4	40440160	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	4209138	40440160	150714116	21	16697											
UBA6	55236	broad.mit.edu	37	chr4	68543331	68543331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatggagtactaacctGgtatttatctaaaaaggaga	18	10	8	5	0	1	1	0	0	1	1	1	3	1	2	1	3	2	2	1	3	9	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:68543331G>T	ENST00000322244.5	-	6	522	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	UBA6_ENST00000420827.2_Missense_Mutation_p.Q155K	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	155					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTACTAACCTGGTATTTATCT	0.308																																						uc003hdg.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(463-465)Cag>Aag		Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.							117	114	115					4																	68543331		2203	4300	6503	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68543331G>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.463C>A	4.37:g.68543331G>T	ENSP00000313454:p.Gln155Lys					UBA6_uc003hdi.3_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	p.Q155K	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			5	515	-			155					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.463C>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702267	0.68501	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.62788	0.0;0.0	5.16	5.16	0.70880	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.67569	2.06	0.80722	D	1	B;P;P	0.40970	0.175;0.734;0.716	B;B;B	0.35470	0.084;0.203;0.194	T	0.64317	-0.6436	10	0.38643	T	0.18	-17.9719	18.4271	0.90612	0.0:0.0:1.0:0.0	.	155;155;155	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	K	155	ENSP00000313454:Q155K;ENSP00000399234:Q155K	ENSP00000313454:Q155K	Q	-	1	0	UBA6	68225926	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.108000	0.89559	2.661000	0.90470	0.655000	0.94253	CAG		0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		T	68543331	G	T	68543331	3	4	237	1	0	0	0	0	1	0	0	0	16829	1357	47	5	2807	5	UBA6	4	68543331	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	28103171	68543331	122610945	22	16698											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344650	69344650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcaagcttacaatgacGccataactcctagaatgtta	15	10	5	11	1	1	2	1	1	0	1	2	2	2	2	3	0	4	2	3	0	8	4	rs552753190		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:69344650G>A	ENST00000305363.4	+	9	1115	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	351	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAATGACGCCATAACTCC	0.388													G|||	1	0.000199681	0	0	5008	,	,		17808	0		0	False		,,,				2504	0.001					uc003hdz.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1051-1053)Gcc>Acc		Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.							170	163	166					4																	69344650		2203	4300	6503	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344650G>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1051G>A	4.37:g.69344650G>A	ENSP00000307519:p.Ala351Thr						p.A351T	NM_014058	NP_054777	Q9UL52	TM11E_HUMAN			8	1115	+			351			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.1051G>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	G	6.950	0.545103	0.13312	.	.	ENSG00000087128	ENST00000305363	D	0.88201	-2.35	5.31	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.293000	0.24016	N	0.042327	T	0.74191	0.3684	N	0.21240	0.645	0.09310	N	0.999999	B	0.33807	0.426	B	0.21151	0.033	T	0.60332	-0.7284	10	0.14252	T	0.57	.	6.0653	0.19860	0.1696:0.1546:0.6758:0.0	.	351	Q9UL52	TM11E_HUMAN	T	351	ENSP00000307519:A351T	ENSP00000307519:A351T	A	+	1	0	TMPRSS11E	69027245	0.030000	0.19436	0.980000	0.43619	0.019000	0.09904	1.480000	0.35464	0.738000	0.32606	0.655000	0.94253	GCC		0.388	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		A	69344650	G	A	69344650	3	1	237	1	0	0	0	0	1	0	0	0	16239	1087	38	1	1085	1	TMPRSS11E	4	69344650	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	801319	69344650	121809626	23	16699											
PTPN13	5783	broad.mit.edu	37	chr4	87671855	87671855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaagcttcatgggaggaAaagcctagagagatgagtaa	17	6	13	5	0	1	3	1	1	0	2	1	7	1	5	1	2	2	2	1	2	5	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:87671855A>G	ENST00000411767.2	+	18	2946	c.2883A>G	c.(2881-2883)gaA>gaG	p.E961E	PTPN13_ENST00000511467.1_Silent_p.E961E|PTPN13_ENST00000427191.2_Silent_p.E961E|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Silent_p.E961E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	961					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGGGAGGAAAAGCCTAGAG	0.438																																						uc003hpz.3																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2881-2883)gaA>gaG		Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.							52	49	50					4																	87671855		1898	4122	6020	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87671855A>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2883A>G	4.37:g.87671855A>G						PTPN13_uc003hpy.3_Silent_p.E961E|PTPN13_uc003hqa.3_Silent_p.E961E|PTPN13_uc003hqb.3_Intron	p.E961E	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	17	3363	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	961					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.2883A>G	CCDS47094.1																																																																																				0.438	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			G	87671855	A	G	87671855	2	3	237	1	0	0	0	0	0	0	0	1	12782	11	1	4		4	PTPN13	4	87671855	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	18327205	87671855	103482421	24	16700											
CCNA2	890	broad.mit.edu	37	chr4	122744710	122744710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggtcctcttggagcGccgtctgctgcaatgctagc	4	12	11	14	2	3	0	0	0	3	0	5	1	4	1	3	2	5	3	3	2	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:122744710G>A	ENST00000274026.5	-	1	377	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	25					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTCTTGGAGCGCCGTCTGCTG	0.692																																						uc003iec.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(73-75)gCg>gTg		Homo sapiens cyclin A2 (CCNA2), mRNA.							13	18	17					4																	122744710		2165	4286	6451	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122744710G>A		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.74C>T	4.37:g.122744710G>A	ENSP00000274026:p.Ala25Val						p.A25V	NM_001237	NP_001228	P20248	CCNA2_HUMAN			0	379	-			25					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.74C>T	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243814	0.22796	.	.	ENSG00000145386	ENST00000274026	T	0.13307	2.6	3.66	1.86	0.25419	.	1.608960	0.03033	N	0.152403	T	0.10423	0.0255	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29150	-1.0021	10	0.31617	T	0.26	.	5.2141	0.15332	0.1192:0.2096:0.6712:0.0	.	25	P20248	CCNA2_HUMAN	V	25	ENSP00000274026:A25V	ENSP00000274026:A25V	A	-	2	0	CCNA2	122964160	0.001000	0.12720	0.022000	0.16811	0.123000	0.20343	-0.161000	0.10026	0.319000	0.23209	0.655000	0.94253	GCG		0.692	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		A	122744710	G	A	122744710	3	1	237	1	0	0	0	0	1	0	0	0	2910	1087	38	1	1256	1	CCNA2	4	122744710	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	35072855	122744710	68409566	25	16701											
SMARCA5	8467	broad.mit.edu	37	chr4	144461639	144461639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactggattcaatagtcAttcaacaaggtaagccatgg	14	10	9	8	0	4	1	4	0	0	1	4	2	4	2	1	3	2	1	1	3	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:144461639A>T	ENST00000283131.3	+	14	2356	c.1894A>T	c.(1894-1896)Att>Ttt	p.I632F		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	632	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTCAATAGTCATTCAACAAGG	0.363																																						uc003ijg.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1894-1896)Att>Ttt		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.							80	78	79					4																	144461639		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144461639A>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1894A>T	4.37:g.144461639A>T	ENSP00000283131:p.Ile632Phe						p.I632F	NM_003601	NP_003592	O60264	SMCA5_HUMAN			13	2356	+	all_hematologic(180;0.158)		632			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000283131.3	37	c.1894A>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007008	0.93287	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.76968	-1.06	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.73598	2.24	0.80722	D	1	D	0.62365	0.991	D	0.75020	0.985	D	0.89028	0.3440	10	0.87932	D	0	-14.9108	16.0135	0.80420	1.0:0.0:0.0:0.0	.	632	O60264	SMCA5_HUMAN	F	632;575;575	ENSP00000283131:I632F	ENSP00000283131:I632F	I	+	1	0	SMARCA5	144681089	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.240000	0.95396	2.183000	0.69458	0.460000	0.39030	ATT		0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			T	144461639	A	T	144461639	3	4	237	1	0	0	0	0	1	0	0	0	14771	217	8	5	1948	5	SMARCA5	4	144461639	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	21716929	144461639	46692637	26	16702											
C4orf45	152940	broad.mit.edu	37	chr4	159881481	159881481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatcaagagaagcttGacttagttcttcatactgta	13	15	7	6	0	3	3	2	2	1	1	3	4	3	3	0	0	2	3	0	0	7	8			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:159881481G>T	ENST00000434826.2	-	3	397	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	C4orf45_ENST00000508011.1_Intron	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	105										large_intestine(2)|lung(3)	5						AGAGAAGCTTGACTTAGTTCT	0.308																																						uc003iqf.1																			0				large_intestine(2)|lung(3)	5						c.(313-315)Caa>Aaa		Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.							54	54	54					4																	159881481		1798	4064	5862	SO:0001583	missense	152940							g.chr4:159881481G>T		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.313C>A	4.37:g.159881481G>T	ENSP00000412215:p.Gln105Lys					C4orf45_uc010iqt.1_Intron	p.Q105K	NM_152543	NP_689756	Q96LM5	CD045_HUMAN			2	398	-			105					A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	c.313C>A	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	G	3.068	-0.191668	0.06299	.	.	ENSG00000164123	ENST00000434826	T	0.14391	2.51	5.18	0.544	0.17185	.	1.794950	0.02635	N	0.104770	T	0.15219	0.0367	L	0.52364	1.645	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.31308	-0.9948	9	.	.	.	-3.5676	7.9387	0.29946	0.0:0.1416:0.322:0.5364	.	105	Q96LM5	CD045_HUMAN	K	105	ENSP00000412215:Q105K	.	Q	-	1	0	C4orf45	160100931	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.416000	0.21198	0.243000	0.21327	0.655000	0.94253	CAA		0.308	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543		T	159881481	G	T	159881481	3	4	237	1	0	0	0	0	1	0	0	0	2273	1299	45	5	259	5	C4orf45	4	159881481	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	15419842	159881481	31272795	27	16703											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140833	140833	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgcaccaaagaggaaggTaaatgctccccacgccctcc	11	5	10	15	1	0	1	0	0	0	1	2	2	2	2	5	3	2	4	5	3	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140833T>G	ENST00000283426.6	+	1	459		c.e1+2		CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAGGAAGGTAAATGCTCCC	0.642																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.e1+2		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							16	21	19					5																	140833		2175	4263	6438	SO:0001630	splice_region_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140833T>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.409+2T>G	5.37:g.140833T>G							p.D137_splice	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	459	+			137						Splice_Site	SNP	ENST00000283426.6	37	c.409_splice	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	t	7.270	0.606862	0.14002	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	2.2	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3973	0.21618	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG4B	193833	0.020000	0.18652	0.042000	0.18584	0.051000	0.14879	-0.328000	0.07945	0.766000	0.33244	0.157000	0.16456	.		0.642	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	Intron	G	140833	T	G	140833	5	3	237	1	0	0	0	0	0	0	1	0	12072	1652	57	5	413	5	PLEKHG4B	5	140833	Splice_Site	SNP	T	TCGA-32-4210-01A-01D-1353-08		140833	180774427	28	16704											
CTNND2	1501	broad.mit.edu	37	chr5	11199757	11199757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtccaccaggagctggatgCctccttgtctccttatctga	6	12	10	13	0	2	1	0	1	2	0	5	3	4	3	5	3	2	1	5	3	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:11199757C>T	ENST00000304623.8	-	11	1967	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CTNND2_ENST00000359640.2_Missense_Mutation_p.G593D|CTNND2_ENST00000511377.1_Missense_Mutation_p.G502D|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G256D|CTNND2_ENST00000458100.2_Missense_Mutation_p.G160D	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	593					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGCTGGATGCCTCCTTGTCT	0.473																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1777-1779)gGc>gAc		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							90	85	87					5																	11199757		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199757C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1778G>A	5.37:g.11199757C>T	ENSP00000307134:p.Gly593Asp					CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	p.G593D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1923	-			593					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1778G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942453	0.92526	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89542	0.3793	10	0.87932	D	0	-24.4281	20.0474	0.97616	0.0:1.0:0.0:0.0	.	256;160;593	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	D	593;593;502;160;256	ENSP00000307134:G593D;ENSP00000352661:G593D;ENSP00000426510:G502D;ENSP00000391155:G160D;ENSP00000426887:G256D	ENSP00000307134:G593D	G	-	2	0	CTNND2	11252757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GGC		0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11199757	C	T	11199757	3	4	237	1	0	0	0	0	1	0	0	0	4020	739	26	3	1947	3	CTNND2	5	11199757	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	11058924	11199757	169715503	29	16705											
PTGER4	5734	broad.mit.edu	37	chr5	40681332	40681332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccggtgaccatcgccacGtacatgaagggccaatggcc	10	5	12	14	3	0	2	0	2	0	0	1	2	0	2	5	3	2	1	5	3	3	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:40681332G>A	ENST00000302472.3	+	2	1261	c.237G>A	c.(235-237)acG>acA	p.T79T	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	79					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CCATCGCCACGTACATGAAGG	0.607											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(235-237)acG>acA		Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.							69	68	68					5																	40681332		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681332G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.237G>A	5.37:g.40681332G>A			OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.T79T	NM_000958	NP_000949	P35408	PE2R4_HUMAN			1	829	+			79					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.237G>A	CCDS3930.1																																																																																				0.607	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		A	40681332	G	A	40681332	2	1	237	1	0	0	0	0	0	0	0	1	12745	1132	40	1		1	PTGER4	5	40681332	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	29481575	40681332	140233928	30	16706											
THBS4	7060	broad.mit.edu	37	chr5	79373950	79373950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcgacgtctgcccagagaAcgcagaggtcaccctgaccg	10	5	12	14	4	2	3	1	1	1	2	3	6	2	3	3	1	2	1	3	1	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:79373950A>G	ENST00000350881.2	+	17	2355	c.2165A>G	c.(2164-2166)aAc>aGc	p.N722S	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.N631S|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	722					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGCCCAGAGAACGCAGAGGTC	0.592																																						uc021yaw.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2164-2166)aAc>aGc		Homo sapiens thrombospondin 4 (THBS4), mRNA.							100	79	86					5																	79373950		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79373950A>G		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2165A>G	5.37:g.79373950A>G	ENSP00000339730:p.Asn722Ser					BC047373_uc003kgi.4_Intron	p.N722S	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2356	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	722					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2165A>G	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323437	0.81580	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.97870	-4.58;-4.58	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.97835	0.9289	L	0.48218	1.51	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.97530	1.0079	10	0.33141	T	0.24	-37.8274	15.5832	0.76462	1.0:0.0:0.0:0.0	.	722	P35443	TSP4_HUMAN	S	722;631	ENSP00000339730:N722S;ENSP00000422298:N631S	ENSP00000339730:N722S	N	+	2	0	THBS4	79409706	1.000000	0.71417	0.980000	0.43619	0.964000	0.63967	9.135000	0.94478	2.315000	0.78130	0.533000	0.62120	AAC		0.592	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			G	79373950	A	G	79373950	3	3	237	1	0	0	0	0	1	0	0	0	15853	43	2	4	2231	4	THBS4	5	79373950	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	38692618	79373950	101541310	31	16707											
GPR98	84059	broad.mit.edu	37	chr5	90021005	90021005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgaagaaaagccttctCttaacagtgtgtttacattc	14	13	7	7	0	1	2	0	1	1	1	3	3	1	2	1	0	3	1	1	0	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:90021005C>A	ENST00000405460.2	+	47	10105	c.10009C>A	c.(10009-10011)Ctt>Att	p.L3337I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3337					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGCCTTCTCTTAACAGTGT	0.264																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10009-10011)Ctt>Att		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							22	21	22					5																	90021005		1790	4019	5809	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021005C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10009C>A	5.37:g.90021005C>A	ENSP00000384582:p.Leu3337Ile					GPR98_uc003kjt.3_Missense_Mutation_p.L1043I|GPR98_uc003kjv.3_Missense_Mutation_p.L937I	p.L3337I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	46	10105	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3337					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10009C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081339	0.08533	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26957	1.7	5.15	-0.394	0.12434	.	0.755390	0.12946	N	0.426235	T	0.09598	0.0236	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37337	-0.9710	10	0.05959	T	0.93	.	5.1758	0.15133	0.3533:0.2826:0.3642:0.0	.	3337;3337	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	3337	ENSP00000384582:L3337I	ENSP00000296619:L3337I	L	+	1	0	GPR98	90056761	0.015000	0.18098	0.716000	0.30569	0.857000	0.48899	0.388000	0.20735	0.210000	0.20664	-0.357000	0.07601	CTT		0.264	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90021005	C	A	90021005	3	1	237	1	0	0	0	0	1	0	0	0	6721	913	32	5	10195	5	GPR98	5	90021005	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	10647055	90021005	90894255	32	16708											
PCDHB1	29930	broad.mit.edu	37	chr5	140432384	140432384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagaggtgctaatatcCgacgttaatgacaatcctcc	13	11	8	9	2	0	3	0	2	0	1	3	4	3	3	3	1	1	2	3	1	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140432384C>T	ENST00000306549.3	+	1	1406	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAATATCCGACGTTAATG	0.448																																						uc003lik.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1327-1329)tcC>tcT		Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.							93	92	92					5																	140432384		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432384C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1329C>T	5.37:g.140432384C>T							p.S443S	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1406	+			443			Cadherin 4.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.1329C>T	CCDS4243.1																																																																																				0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		T	140432384	C	T	140432384	2	4	237	1	0	0	0	0	0	0	0	1	11534	639	23	2		2	PCDHB1	5	140432384	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	50411379	140432384	40482876	33	16709											
FAM71B	153745	broad.mit.edu	37	chr5	156589852	156589852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttttgtcatctctcgtgTttttatggccagatgcggac	5	18	9	9	2	2	1	1	0	1	1	4	2	2	2	1	2	1	1	1	2	1	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:156589852T>C	ENST00000302938.4	-	2	1519	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	475						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTCTCGTGTTTTTATGGCC	0.527																																						uc003lwn.3																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1423-1425)aAc>aGc		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.							206	199	201					5																	156589852		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589852T>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1424A>G	5.37:g.156589852T>C	ENSP00000305596:p.Asn475Ser						p.N475S	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1524	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	475					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1424A>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	0.219	-1.030024	0.02045	.	.	ENSG00000170613	ENST00000302938	T	0.17854	2.25	3.57	7.36E-4	0.14043	.	0.999425	0.08093	N	0.999024	T	0.12732	0.0309	L	0.51422	1.61	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.42932	-0.9422	10	0.08599	T	0.76	-4.8034	4.6693	0.12682	0.0:0.1206:0.3683:0.5111	.	475	Q8TC56	FA71B_HUMAN	S	475	ENSP00000305596:N475S	ENSP00000305596:N475S	N	-	2	0	FAM71B	156522430	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.179000	0.16840	-0.006000	0.14370	0.533000	0.62120	AAC		0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		C	156589852	T	C	156589852	3	2	237	1	0	0	0	0	1	0	0	0	5608	1725	60	4	397	4	FAM71B	5	156589852	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	16157468	156589852	24325408	34	16710											
GABRA6	2559	broad.mit.edu	37	chr5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataaagtgctcacgagagCgcccatcttacaatcaacac	15	7	6	13	2	3	1	2	0	1	1	3	2	3	1	1	0	4	1	1	0	6	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:161128598C>T	ENST00000274545.5	+	9	1614	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_ENST00000523217.1_Missense_Mutation_p.A384V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	394					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1180-1182)gCg>gTg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111	106	108					5																	161128598		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128598C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1181C>T	5.37:g.161128598C>T	ENSP00000274545:p.Ala394Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	p.A394V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1519	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	394					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1181C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058849	0.01950	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.203	0.13204	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.119710	0.06693	N	0.770002	T	0.62744	0.2453	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47182	-0.9137	10	0.30078	T	0.28	.	2.5722	0.04798	0.3645:0.3806:0.1184:0.1366	.	394	Q16445	GBRA6_HUMAN	V	394;384	ENSP00000274545:A394V;ENSP00000430527:A384V	ENSP00000274545:A394V	A	+	2	0	GABRA6	161061176	0.001000	0.12720	0.026000	0.17262	0.022000	0.10575	-0.310000	0.08135	-0.032000	0.13758	0.655000	0.94253	GCG		0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161128598	C	T	161128598	3	4	237	1	0	0	0	0	1	0	0	0	6165	768	27	1	1215	1	GABRA6	5	161128598	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	4538746	161128598	19786662	35	16711											
MDC1	9656	broad.mit.edu	37	chr6	30675376	30675376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggggctcactggggatcCccttccacctgactggctcc	4	9	11	17	0	1	1	1	1	0	0	4	2	4	2	6	5	0	2	6	5	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:30675376C>A	ENST00000376406.3	-	8	3627	c.2980G>T	c.(2980-2982)Gga>Tga	p.G994*	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	994				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTGGGGATCCCCTTCCACCT	0.637								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(2980-2982)Gga>Tga	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							105	117	113					6																	30675376		1509	2707	4216	SO:0001587	stop_gained	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675376C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2980G>T	6.37:g.30675376C>A	ENSP00000365588:p.Gly994*					MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	p.G994*	NM_014641	NP_055456	Q14676	MDC1_HUMAN			7	3420	-			994	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	ENST00000376406.3	37	c.2980G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	45	12.018219	0.99627	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	.	.	.	3.61	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.36723	D	0.881299	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	0.0288	7.4517	0.27242	0.0:0.8709:0.0:0.1291	.	.	.	.	X	994	.	ENSP00000365588:G994X	G	-	1	0	MDC1	30783355	0.068000	0.21057	0.210000	0.23637	0.527000	0.34593	0.979000	0.29500	0.800000	0.34041	0.443000	0.29094	GGA		0.637	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30675376	C	A	30675376	4	1	237	1	0	0	0	0	0	1	0	0	9403	632	22	5	3321	5	MDC1	6	30675376	Nonsense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		30675376	140439691	36	16712											
DST	667	broad.mit.edu	37	chr6	56476386	56476386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggttgatatttcctcActggaaatctgtaaggtaaa	11	16	8	6	0	3	1	1	1	2	0	4	2	4	2	1	3	0	3	1	3	5	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:56476386A>G	ENST00000361203.3	-	34	4441	c.4434T>C	c.(4432-4434)agT>agC	p.S1478S	DST_ENST00000370788.2_Silent_p.S1478S|DST_ENST00000370754.5_Silent_p.S1656S|DST_ENST00000446842.2_Silent_p.S1152S|DST_ENST00000370769.4_Silent_p.S1478S|DST_ENST00000244364.6_Silent_p.S1152S|DST_ENST00000421834.2_Silent_p.S1478S|DST_ENST00000312431.6_Silent_p.S1478S			Q03001	DYST_HUMAN	dystonin	1478					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTCCTCACTGGAAATCT	0.333																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3454-3456)agT>agC		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							103	97	99					6																	56476386		1808	4073	5881	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56476386A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4434T>C	6.37:g.56476386A>G						DST_uc021zax.1_Silent_p.S1152S	p.S1152S	NM_015548	NP_056363	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3564	-	Lung NSC(77;0.103)		3556					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.3456T>C																																																																																					0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56476386	A	G	56476386	2	3	237	1	0	0	0	0	0	0	0	1	4783	156	6	4		4	DST	6	56476386	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	25801010	56476386	114638681	37	16713											
PTP4A1	7803	broad.mit.edu	37	chr6	64289185	64289185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagtacttgttgccctagCattaattgaaggtggaatga	11	13	10	7	0	0	2	0	2	0	0	1	3	1	3	2	2	3	3	2	2	5	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:64289185C>A	ENST00000370651.3	+	5	1506	c.353C>A	c.(352-354)gCa>gAa	p.A118E	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	118	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			GTTGCCCTAGCATTAATTGAA	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)	uc003pek.3																			0				large_intestine(3)|lung(4)|skin(1)	8						c.(352-354)gCa>gAa		Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.							117	110	112					6																	64289185		2203	4300	6503	SO:0001583	missense	7803				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	g.chr6:64289185C>A	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.353C>A	6.37:g.64289185C>A	ENSP00000359685:p.Ala118Glu					PTP4A1_uc003pel.3_Missense_Mutation_p.A118E|PTP4A1_uc021zbm.1_Non-coding_Transcript	p.A118E	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)		6	1339	+	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		118			Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.		B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	ENST00000370651.3	37	c.353C>A	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507125	0.96386	.	.	ENSG00000112245	ENST00000370651	D	0.85411	-1.98	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90761	0.4665	10	0.87932	D	0	-16.9852	20.394	0.98981	0.0:1.0:0.0:0.0	.	118	Q93096	TP4A1_HUMAN	E	118	ENSP00000359685:A118E	ENSP00000359685:A118E	A	+	2	0	PTP4A1	64347144	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.033000	0.70925	2.830000	0.97506	0.585000	0.79938	GCA		0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2			A	64289185	C	A	64289185	3	1	237	1	0	0	0	0	1	0	0	0	12770	710	25	5	367	5	PTP4A1	6	64289185	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	7812799	64289185	106825882	38	16714											
C6orf182	285753	broad.mit.edu	37	chr6	109480497	109480497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcgtgacccacataTccttcagaaaccttttaacg	13	10	5	13	2	1	2	1	1	0	1	3	2	2	2	3	0	3	1	3	0	4	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:109480497T>C	ENST00000517392.1	+	9	1274	c.848T>C	c.(847-849)aTc>aCc	p.I283T	CEP57L1_ENST00000368968.2_Missense_Mutation_p.I283T|CEP57L1_ENST00000523787.1_Missense_Mutation_p.I286T|CEP57L1_ENST00000368970.2_Missense_Mutation_p.I300T|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000407272.1_Missense_Mutation_p.I283T|CEP57L1_ENST00000521522.1_Intron|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000359793.3_Missense_Mutation_p.I283T	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	283					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GACCCACATATCCTTCAGAAA	0.433																																						uc010kdk.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(847-849)aTc>aCc		Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.							107	97	101					6																	109480497		2203	4300	6503	SO:0001583	missense	285753					microtubule|microtubule organizing center		g.chr6:109480497T>C	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.848T>C	6.37:g.109480497T>C	ENSP00000427844:p.Ile283Thr					CEP57L1_uc003psx.4_Missense_Mutation_p.I283T|CEP57L1_uc010kdl.3_Missense_Mutation_p.I283T|CEP57L1_uc003psy.4_Missense_Mutation_p.I283T	p.I283T	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN			10	1425	+			283					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.848T>C	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	T	9.562	1.118634	0.20877	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000368968;ENST00000522490;ENST00000368970;ENST00000523787;ENST00000359793;ENST00000523174	T;T;T;T;T;T;T	0.48836	0.92;0.92;0.93;0.8;0.93;0.92;0.92	4.86	-4.86	0.03132	.	0.899723	0.09241	N	0.829204	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33548	-0.9864	10	0.16420	T	0.52	18.1687	7.2812	0.26312	0.1358:0.4557:0.0:0.4085	.	283;283	Q8IYX8;G5E992	CE57L_HUMAN;.	T	283;283;283;162;300;286;283;64	ENSP00000427844:I283T;ENSP00000383936:I283T;ENSP00000357964:I283T;ENSP00000429957:I162T;ENSP00000357966:I300T;ENSP00000430529:I286T;ENSP00000352841:I283T	ENSP00000352841:I283T	I	+	2	0	CEP57L1	109587190	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.246000	0.08878	-1.199000	0.02666	-0.911000	0.02809	ATC		0.433	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		C	109480497	T	C	109480497	3	2	237	1	0	0	0	0	1	0	0	0	2346	1435	50	4	878	4	C6orf182	6	109480497	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	45191312	109480497	61634570	39	16715											
C6orf170	221322	broad.mit.edu	37	chr6	121433663	121433663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcttacagaaatatgtagCcttggcaaccaaagaaaagc	17	8	8	8	0	1	2	0	0	1	2	1	2	1	2	2	1	4	2	2	1	8	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:121433663C>G	ENST00000398212.2	-	29	3361	c.3312G>C	c.(3310-3312)agG>agC	p.R1104S	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R1145S|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1104					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AAATATGTAGCCTTGGCAACC	0.338																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(3310-3312)agG>agC		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.							86	86	86					6																	121433663		1810	4069	5879	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121433663C>G	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3312G>C	6.37:g.121433663C>G	ENSP00000381270:p.Arg1104Ser						p.R1104S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	28	3380	-			1104					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.3312G>C	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044002	0.36085	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26223	1.75;1.75	5.98	0.93	0.19454	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.72894	2.215	0.49798	D	0.999824	D	0.89917	1.0	D	0.91635	0.999	T	0.07102	-1.0790	10	0.46703	T	0.11	.	5.4878	0.16759	0.0:0.2199:0.1364:0.6437	.	1104	Q96NH3	BROMI_HUMAN	S	1145;1104	ENSP00000275159:R1145S;ENSP00000381270:R1104S	ENSP00000275159:R1145S	R	-	3	2	C6orf170	121475362	1.000000	0.71417	0.959000	0.39883	0.047000	0.14425	0.462000	0.21956	0.157000	0.19338	-0.324000	0.08512	AGG		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		G	121433663	C	G	121433663	3	3	237	1	0	0	0	0	1	0	0	0	2344	738	26	5	477	5	C6orf170	6	121433663	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	11953166	121433663	49681404	40	16716											
GRM1	2911	broad.mit.edu	37	chr6	146708084	146708084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcctgcaaagagaatgAatatgtgcaagatgagttca	15	8	11	7	1	1	4	1	2	0	2	1	5	1	4	1	1	2	3	1	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:146708084A>T	ENST00000282753.1	+	6	1896	c.1661A>T	c.(1660-1662)gAa>gTa	p.E554V	GRM1_ENST00000392299.2_Missense_Mutation_p.E554V|GRM1_ENST00000507907.1_Missense_Mutation_p.E554V|GRM1_ENST00000492807.2_Missense_Mutation_p.E554V|GRM1_ENST00000361719.2_Missense_Mutation_p.E554V|GRM1_ENST00000355289.4_Missense_Mutation_p.E554V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	554					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AAAGAGAATGAATATGTGCAA	0.438																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1660-1662)gAa>gTa		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						152	143	146					6																	146708084		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146708084A>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1661A>T	6.37:g.146708084A>T	ENSP00000282753:p.Glu554Val					GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	p.E554V	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	6	2131	+		Ovarian(120;0.0387)	554					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1661A>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643063	0.87859	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.27	5.27	0.74061	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.962;0.999;0.991	D	0.97845	1.0271	10	0.87932	D	0	.	14.859	0.70366	1.0:0.0:0.0:0.0	.	554;554;554	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	V	554	ENSP00000354896:E554V;ENSP00000376119:E554V;ENSP00000424095:E554V;ENSP00000282753:E554V;ENSP00000347437:E554V;ENSP00000425599:E554V	ENSP00000282753:E554V	E	+	2	0	GRM1	146749777	1.000000	0.71417	0.885000	0.34714	0.966000	0.64601	8.635000	0.91006	1.963000	0.57068	0.477000	0.44152	GAA		0.438	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146708084	A	T	146708084	3	4	237	1	0	0	0	0	1	0	0	0	6796	246	9	5	1683	5	GRM1	6	146708084	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	25274421	146708084	24406983	41	16717											
PLEKHG1	57480	broad.mit.edu	37	chr6	151117039	151117039	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattgcactaactatccaagGtatggatcgagaatgggcca	13	10	10	8	1	0	1	0	0	0	1	2	3	1	2	2	3	2	2	2	3	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:151117039G>T	ENST00000358517.2	+	5	840		c.e5+1		PLEKHG1_ENST00000367328.1_Splice_Site			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTATCCAAGGTATGGATCGA	0.403																																						uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.e5+1		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							156	143	147					6																	151117039		2203	4300	6503	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151117039G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.629+1G>T	6.37:g.151117039G>T						PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc003qny.1_Splice_Site_p.R210_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice	p.R269_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	5	894	+			210			DH.		Q5T1F2	Splice_Site	SNP	ENST00000358517.2	37	c.806_splice	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208149	0.79240	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5735	0.95432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG1	151158732	1.000000	0.71417	0.981000	0.43875	0.783000	0.44284	9.414000	0.97362	2.636000	0.89361	0.655000	0.94253	.		0.403	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		Intron	T	151117039	G	T	151117039	5	4	237	1	0	0	0	0	0	0	1	0	12068	1275	44	5	644	5	PLEKHG1	6	151117039	Splice_Site	SNP	G	TCGA-32-4210-01A-01D-1353-08	4408955	151117039	19998028	42	16718											
SYNE1	23345	broad.mit.edu	37	chr6	152792795	152792795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttaatgatccaagacttCagctttgactctgcaagaac	13	12	6	10	0	2	4	1	2	1	2	3	4	3	4	1	0	4	2	1	0	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:152792795C>T	ENST00000367255.5	-	16	2170	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SYNE1_ENST00000413186.2_Silent_p.L523L|SYNE1_ENST00000367253.4_Silent_p.L523L|SYNE1_ENST00000466159.2_Silent_p.L523L|SYNE1_ENST00000495090.2_Silent_p.L90L|SYNE1_ENST00000341594.5_Silent_p.L530L|SYNE1_ENST00000367248.3_Silent_p.L513L|SYNE1_ENST00000265368.4_Silent_p.L523L|SYNE1_ENST00000423061.1_Silent_p.L530L|SYNE1_ENST00000448038.1_Silent_p.L530L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	523					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L523L(2)|p.L530L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGACTTCAGCTTTGACT	0.438										HNSCC(10;0.0054)																												uc021zhb.1																			3	Substitution - coding silent(3)	p.L523L(3)|p.L530L(1)	lung(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1567-1569)ctG>ctA		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							148	141	144					6																	152792795		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152792795C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1569G>A	6.37:g.152792795C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.4_Silent_p.L530L|SYNE1_uc003qou.4_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L	p.L523L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	13	1792	-		Ovarian(120;0.0955)	523					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.1569G>A	CCDS5236.2																																																																																				0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152792795	C	T	152792795	2	4	237	1	0	0	0	0	0	0	0	1	15442	813	29	3		3	SYNE1	6	152792795	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1675756	152792795	18322272	43	16719											
SLC29A4	222962	broad.mit.edu	37	chr7	5330388	5330388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgagccagtgcccgatgaCcgttatcacgccatctactt	9	9	9	14	4	2	1	1	1	1	0	2	4	2	1	4	0	3	1	4	0	2	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:5330388C>T	ENST00000396872.3	+	3	356	c.195C>T	c.(193-195)gaC>gaT	p.D65D	SLC29A4_ENST00000406453.3_Silent_p.D65D|SLC29A4_ENST00000297195.4_Silent_p.D65D			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	65					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGCCCGATGACCGTTATCACG	0.587																																						uc003sod.3																			0		p.D64N(4)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(193-195)gaC>gaT		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							106	79	88					7																	5330388		2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330388C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.195C>T	7.37:g.5330388C>T						SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.D65D|SLC29A4_uc003soe.3_Silent_p.D65D	p.D65D	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	2	356	+		Ovarian(82;0.0175)	65					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.195C>T	CCDS5340.1																																																																																				0.587	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5330388	C	T	5330388	2	4	237	1	0	0	0	0	0	0	0	1	14537	506	18	3		3	SLC29A4	7	5330388	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		5330388	153808275	44	16720											
CPVL	54504	broad.mit.edu	37	chr7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggaagtctctgtcacGcactgtgaaaacaaagaaga	15	6	11	9	1	2	3	1	1	1	2	3	4	2	4	1	2	1	1	1	2	5	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:29134756G>A	ENST00000409850.1	-	9	1052	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	CPVL_ENST00000396276.3_Missense_Mutation_p.R136C|CPVL_ENST00000265394.5_Missense_Mutation_p.R136C|CPVL_ENST00000488891.2_5'Flank			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	136						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCTGTCACGCACTGTGAAA	0.547																																						uc003szv.3																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(406-408)Cgt>Tgt		Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.							131	108	116					7																	29134756		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29134756G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.406C>T	7.37:g.29134756G>A	ENSP00000387164:p.Arg136Cys					CPVL_uc003szw.3_Missense_Mutation_p.R136C|CPVL_uc003szx.3_Missense_Mutation_p.R136C	p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			4	525	-			136					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.406C>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577178	0.28092	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.31	2.5	0.30297	.	0.454964	0.26863	N	0.022116	T	0.80352	0.4607	L	0.54323	1.7	0.32437	N	0.54725	B	0.19331	0.035	B	0.14578	0.011	T	0.74615	-0.3606	10	0.38643	T	0.18	-5.9473	4.6742	0.12703	0.2324:0.3185:0.449:0.0	.	136	Q9H3G5	CPVL_HUMAN	C	136;136;136;20;66;20;66	ENSP00000265394:R136C;ENSP00000379572:R136C;ENSP00000387164:R136C;ENSP00000409036:R66C;ENSP00000417015:R20C;ENSP00000395690:R66C	ENSP00000265394:R136C	R	-	1	0	CPVL	29101281	0.407000	0.25352	0.512000	0.27736	0.049000	0.14656	0.849000	0.27723	0.619000	0.30197	0.561000	0.74099	CGT		0.547	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		A	29134756	G	A	29134756	3	1	237	1	0	0	0	0	1	0	0	0	3835	1087	38	1	1060	1	CPVL	7	29134756	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	23804368	29134756	130003907	45	16721											
RABGEF1	27342	broad.mit.edu	37	chr7	66270262	66270262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacttcctccccacccTcatctacattgttttgaagg	8	13	7	13	0	2	2	1	2	1	0	4	3	4	3	4	2	1	1	4	2	2	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:66270262T>C	ENST00000284957.5	+	8	1033	c.956T>C	c.(955-957)cTc>cCc	p.L319P	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L319P|KCTD7_ENST00000451741.2_Missense_Mutation_p.L319P|KCTD7_ENST00000510829.2_Missense_Mutation_p.L319P|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L332P|KCTD7_ENST00000380828.2_Missense_Mutation_p.L359P|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L333P			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	536					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCCCCACCCTCATCTACATT	0.522																																						uc003tvf.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						c.(574-576)cTc>cCc		Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							137	111	119					7																	66270262		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66270262T>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.956T>C	7.37:g.66270262T>C	ENSP00000284957:p.Leu319Pro					RABGEF1_uc003tvg.3_Missense_Mutation_p.L127P|RABGEF1_uc003tvh.3_Missense_Mutation_p.L319P|RABGEF1_uc010lag.3_Missense_Mutation_p.L319P|RABGEF1_uc011kee.2_Missense_Mutation_p.L333P|RABGEF1_uc003tvi.3_Missense_Mutation_p.L153P	p.L192P	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			11	1791	+			536			Interaction with ubiquitinated proteins.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.575T>C	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628572	0.87560	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.6	5.6	0.85130	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90450	0.4438	10	0.87932	D	0	-13.7905	14.9658	0.71193	0.0:0.0:0.0:1.0	.	333;153;536	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	P	403;359;319;319;235;319;319;332;333	ENSP00000370208:L359P;ENSP00000421124:L319P;ENSP00000398177:L319P;ENSP00000284957:L319P;ENSP00000415815:L319P;ENSP00000403429:L332P;ENSP00000390480:L333P	ENSP00000370207:L403P	L	+	2	0	RABGEF1;KCTD7	65907697	1.000000	0.71417	0.988000	0.46212	0.933000	0.57130	7.564000	0.82326	2.135000	0.66039	0.533000	0.62120	CTC		0.522	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		C	66270262	T	C	66270262	3	2	237	1	0	0	0	0	1	0	0	0	12966	1551	54	4	982	4	RABGEF1	7	66270262	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	37135506	66270262	92868401	46	16722											
C7orf64	84060	broad.mit.edu	37	chr7	92158936	92158936	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatacccagcagaagacttTactgaagtttatcttattaa	15	13	6	7	0	1	3	0	1	1	2	1	4	1	3	1	0	3	2	1	0	8	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92158936T>C	ENST00000265732.5	+	2	299	c.258T>C	c.(256-258)ttT>ttC	p.F86F	PEX1_ENST00000428214.1_5'Flank|PEX1_ENST00000248633.4_5'Flank|RBM48_ENST00000481551.1_Silent_p.F86F|PEX1_ENST00000438045.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	86	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)										CAGAAGACTTTACTGAAGTTT	0.353																																						uc003uma.3																			0											c.(256-258)ttT>ttC		Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.							86	81	83					7																	92158936		1827	4083	5910	SO:0001819	synonymous_variant	84060						nucleotide binding	g.chr7:92158936T>C	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.258T>C	7.37:g.92158936T>C						PEX1_uc003uly.3_5'Flank|PEX1_uc011khr.2_5'Flank|PEX1_uc010ley.3_5'Flank|PEX1_uc011khs.2_5'Flank|RBM48_uc011khu.1_Silent_p.F86F|RBM48_uc003ulz.3_Silent_p.F86F	p.F86F			Q5RL73	CG064_HUMAN			1	299	+			86					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	c.258T>C	CCDS43615.1																																																																																				0.353	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		C	92158936	T	C	92158936	2	2	237	1	0	0	0	0	0	0	0	1	2410	1751	61	4		4	C7orf64	7	92158936	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	25888674	92158936	66979727	47	16723											
HEPACAM2	253012	broad.mit.edu	37	chr7	92821587	92821587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggatggtcttgctgctgGgcagggatgtgctgaataac	7	12	15	7	0	2	1	0	1	2	0	2	3	2	3	0	4	4	4	0	4	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92821587G>A	ENST00000394468.2	-	9	1442	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P435L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Silent_p.A443A|HEPACAM2_ENST00000453812.2_Silent_p.A478A	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	455					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTGCTGCTGGGCAGGGATGT	0.453																																						uc011khy.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1432-1434)gcC>gcT		Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.							142	119	127					7																	92821587		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92821587G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1365C>T	7.37:g.92821587G>A						HEPACAM2_uc003uml.3_Silent_p.A443A|HEPACAM2_uc010lff.3_Missense_Mutation_p.P435L|HEPACAM2_uc003umm.3_Silent_p.A455A	p.A478A	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN			9	1457	-			455					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.1434C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717269	0.30413	.	.	ENSG00000188175	ENST00000440868	T	0.60920	0.15	4.55	0.241	0.15494	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36744	-0.9735	8	0.59425	D	0.04	-8.4356	0.1217	0.00065	0.2669:0.1994:0.2667:0.2669	.	435	C9JN07	.	L	435	ENSP00000389592:P435L	ENSP00000389592:P435L	P	-	2	0	HEPACAM2	92659523	0.469000	0.25846	0.998000	0.56505	0.450000	0.32258	-0.655000	0.05348	0.209000	0.20645	0.563000	0.77884	CCC		0.453	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		A	92821587	G	A	92821587	2	1	237	1	0	0	0	0	0	0	0	1	7053	1219	43	3		3	HEPACAM2	7	92821587	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	662651	92821587	66317076	48	16724											
CALCR	799	broad.mit.edu	37	chr7	93055835	93055835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagcggttggaggggcGcctcccccaacgctggttcc	6	6	15	14	3	0	1	0	0	0	1	2	2	2	2	4	5	3	4	4	5	1	2	rs567560525		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:93055835G>A	ENST00000394441.1	-	13	1573	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	CALCR_ENST00000426151.1_Missense_Mutation_p.R420C|CALCR_ENST00000360249.4_Missense_Mutation_p.R436C|CALCR_ENST00000421592.1_Missense_Mutation_p.R436C|CALCR_ENST00000359558.2_Missense_Mutation_p.R454C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	454					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGGAGGGGCGCCTCCCCCAA	0.557																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1360-1362)Cgc>Tgc		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						58	63	61					7																	93055835		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055835G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1258C>T	7.37:g.93055835G>A	ENSP00000377959:p.Arg420Cys					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C	p.R454C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1660	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		436					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1360C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342209	0.61073	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.92	0.834	0.18880	.	.	.	.	.	T	0.41627	0.1167	L	0.58101	1.795	0.09310	N	1	D;P	0.60575	0.988;0.918	P;P	0.54924	0.764;0.462	T	0.25502	-1.0130	9	0.66056	D	0.02	.	3.5976	0.08012	0.0895:0.3154:0.4327:0.1624	.	454;420	F5H605;A4D1G6	.;.	C	454;436;436;420;420	ENSP00000352561:R454C;ENSP00000353385:R436C;ENSP00000399552:R436C;ENSP00000377959:R420C;ENSP00000389295:R420C	ENSP00000352561:R454C	R	-	1	0	CALCR	92893771	0.918000	0.31147	0.000000	0.03702	0.007000	0.05969	1.194000	0.32174	0.041000	0.15688	0.585000	0.79938	CGC		0.557	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93055835	G	A	93055835	3	1	237	1	0	0	0	0	1	0	0	0	2579	1087	38	1	170	1	CALCR	7	93055835	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	234248	93055835	66082828	49	16725											
PLAT	5327	broad.mit.edu	37	chr8	42037449	42037449	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttccacttacaggccTcatgcttgccgtagccggag	6	11	9	15	2	1	0	1	0	0	0	3	1	3	1	5	2	4	2	5	2	2	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:42037449T>G	ENST00000220809.4	-	12	1614	c.1358A>C	c.(1357-1359)gAg>gCg	p.E453A	PLAT_ENST00000524009.1_Missense_Mutation_p.E364A|PLAT_ENST00000270189.6_Silent_p.R284R|PLAT_ENST00000519510.1_Missense_Mutation_p.E390A|PLAT_ENST00000429710.2_Missense_Mutation_p.E327A|PLAT_ENST00000429089.2_Missense_Mutation_p.E453A|PLAT_ENST00000352041.3_Missense_Mutation_p.E407A	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	453	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CTTACAGGCCTCATGCTTGCC	0.652																																						uc003xos.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1357-1359)gAg>gCg		Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						50	34	39					8																	42037449		2203	4299	6502	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42037449T>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1358A>C	8.37:g.42037449T>G	ENSP00000220809:p.Glu453Ala					PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	p.E453A	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		11	1567	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	453			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1358A>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077338	0.36662	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.39	5.39	0.77823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.280171	0.38897	N	0.001534	D	0.84946	0.5585	N	0.17594	0.5	0.80722	D	1	B;B;B;B;B;B	0.27732	0.104;0.048;0.057;0.187;0.045;0.187	B;B;B;B;B;B	0.39185	0.113;0.113;0.226;0.293;0.104;0.184	D	0.83720	0.0192	10	0.51188	T	0.08	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	327;364;390;453;407;453	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	A	453;453;407;390;327;364	ENSP00000392045:E453A;ENSP00000220809:E453A;ENSP00000270188:E407A;ENSP00000428886:E390A;ENSP00000407861:E327A;ENSP00000429401:E364A	ENSP00000220809:E453A	E	-	2	0	PLAT	42156606	0.960000	0.32886	0.916000	0.36221	0.231000	0.25187	3.889000	0.56212	2.168000	0.68352	0.533000	0.62120	GAG		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		G	42037449	T	G	42037449	3	3	237	1	0	0	0	0	1	0	0	0	12021	1551	54	5	342	5	PLAT	8	42037449	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08		42037449	104326573	50	16726											
CYP7B1	9420	broad.mit.edu	37	chr8	65517238	65517238	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataggcttgatgtttacttaCctctggagcttcaaagattt	10	16	8	7	0	2	2	1	1	1	1	2	3	2	3	1	2	3	3	1	2	4	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:65517238C>A	ENST00000310193.3	-	5	1407		c.e5+1		CYP7B1_ENST00000523954.1_Splice_Site	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTTTACTTACCTCTGGAGCT	0.493																																						uc003xvj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.e5+1		Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.							119	125	123					8																	65517238		2203	4300	6503	SO:0001630	splice_region_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517238C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1233+1G>T	8.37:g.65517238C>A							p.E411_splice	NM_004820	NP_004811	O75881	CP7B1_HUMAN			5	1437	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	411					B2RN07|Q9UNF5	Splice_Site	SNP	ENST00000310193.3	37	c.1233_splice	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536615	0.45176	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP7B1	65679792	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	.		0.493	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		Intron	A	65517238	C	A	65517238	5	1	237	1	0	0	0	0	0	0	1	0	4197	521	18	5	294	5	CYP7B1	8	65517238	Splice_Site	SNP	C	TCGA-32-4210-01A-01D-1353-08	23479789	65517238	80846784	51	16727											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461384	141461384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttatagatcctgaagaagTtctcctcggagacgatgccc	10	11	9	11	2	2	4	0	1	2	3	5	6	3	4	3	1	1	1	3	1	4	3	rs561185313		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:141461384T>C	ENST00000438773.2	-	2	222	c.89A>G	c.(88-90)aAc>aGc	p.N30S	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.N128S|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.N30S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	30					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTGAAGAAGTTCTCCTCGGA	0.567													T|||	1	0.000199681	0	0	5008	,	,		22270	0		0.001	False		,,,				2504	0					uc003yvh.2																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(382-384)aAc>aGc		Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.							42	41	41					8																	141461384		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461384T>C	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.89A>G	8.37:g.141461384T>C	ENSP00000405060:p.Asn30Ser					TRAPPC9_uc003yvj.2_Missense_Mutation_p.N30S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	p.N128S	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN			1	398	-			30					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.383A>G	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481162	0.12581	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.26	5.26	0.73747	.	0.148573	0.64402	D	0.000011	T	0.19406	0.0466	N	0.11106	0.095	0.29167	N	0.877362	B;B;B	0.18461	0.005;0.002;0.028	B;B;B	0.14578	0.011;0.009;0.01	T	0.20605	-1.0270	9	0.07175	T	0.84	.	7.9639	0.30087	0.0:0.1235:0.0:0.8765	.	30;30;128	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	S	128;30;30	.	ENSP00000373978:N30S	N	-	2	0	TRAPPC9	141530566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.374000	0.52402	1.975000	0.57531	0.528000	0.53228	AAC		0.567	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		C	141461384	T	C	141461384	3	2	237	1	0	0	0	0	1	0	0	0	16462	1725	60	4	3445	4	TRAPPC9	8	141461384	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	75944146	141461384	4902638	52	16728											
ZNF696	79943	broad.mit.edu	37	chr8	144378380	144378380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggcgcacagcggggagAggccctacgcgtgcgccgag	7	2	19	13	7	0	1	0	0	0	1	0	3	0	1	2	4	4	1	2	4	1	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:144378380A>G	ENST00000330143.3	+	3	944	c.535A>G	c.(535-537)Agg>Ggg	p.R179G		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGCGGGGAGAGGCCCTACGC	0.697																																						uc003yxy.4																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(535-537)Agg>Ggg		Homo sapiens zinc finger protein 696 (ZNF696), mRNA.							20	15	17					8																	144378380		2194	4295	6489	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378380A>G	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.535A>G	8.37:g.144378380A>G	ENSP00000328515:p.Arg179Gly						p.R179G	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	944	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		179					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.535A>G	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233623	0.39498	.	.	ENSG00000185730	ENST00000518575;ENST00000330143	T;T	0.19938	2.11;2.11	2.31	-0.827	0.10802	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	L	0.52206	1.635	0.80722	D	1	D	0.52996	0.957	P	0.49192	0.602	T	0.06789	-1.0807	8	.	.	.	.	7.231	0.26043	0.5567:0.4433:0.0:0.0	.	179	Q9H7X3	ZN696_HUMAN	G	179	ENSP00000427857:R179G;ENSP00000328515:R179G	.	R	+	1	2	ZNF696	144449755	0.000000	0.05858	0.022000	0.16811	0.118000	0.20060	-2.082000	0.01365	-0.297000	0.08934	0.450000	0.29827	AGG		0.697	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378380	A	G	144378380	3	3	237	1	0	0	0	0	1	0	0	0	18096	295	11	4	541	4	ZNF696	8	144378380	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	2916996	144378380	1985642	53	16729											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806268	145806268	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcccaaacgccgcgggCcgcccggccctcgctggcaa	6	4	12	19	6	0	0	0	0	0	0	2	0	1	0	5	3	1	2	5	3	2	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:145806268C>G	ENST00000276826.5	-	2	675	c.474G>C	c.(472-474)cgG>cgC	p.R158R	ARHGAP39_ENST00000540274.1_Silent_p.R158R|ARHGAP39_ENST00000377307.2_Silent_p.R158R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	158					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCCGCGGGCCGCCCGGCCC	0.721																																						uc003zds.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(472-474)cgG>cgC		Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.							11	13	12					8																	145806268		2104	4124	6228	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806268C>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.474G>C	8.37:g.145806268C>G						ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zdt.1_Silent_p.R158R	p.R158R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			3	1029	-			158					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.474G>C																																																																																					0.721	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			G	145806268	C	G	145806268	2	3	237	1	0	0	0	0	0	0	0	1	884	726	26	5		5	ARHGAP39	8	145806268	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1427888	145806268	557754	54	16730											
ARID3C	138715	broad.mit.edu	37	chr9	34623425	34623425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcccctcgcaccttTcttaatagggcttggactca	7	13	6	15	1	3	0	1	0	2	0	5	1	3	1	4	2	0	2	4	2	2	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:34623425T>C	ENST00000378909.2	-	4	954	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	288	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTCGCACCTTTCTTAATAGGG	0.592																																						uc011lon.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(862-864)Aaa>Gaa		Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.							60	64	63					9																	34623425		2200	4295	6495	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623425T>C		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.862A>G	9.37:g.34623425T>C	ENSP00000368189:p.Lys288Glu					DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	p.K288E	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	3	862	-	all_epithelial(49;0.102)		288			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.862A>G	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404966	0.62288	.	.	ENSG00000205143	ENST00000378909	T	0.47528	0.84	5.09	3.93	0.45458	.	0.303220	0.24056	N	0.041950	T	0.61664	0.2365	M	0.73598	2.24	0.31131	N	0.707769	D	0.63880	0.993	P	0.62298	0.9	T	0.65421	-0.6172	10	0.51188	T	0.08	.	9.0646	0.36455	0.0:0.086:0.0:0.914	.	288	A6NKF2	ARI3C_HUMAN	E	288	ENSP00000368189:K288E	ENSP00000368189:K288E	K	-	1	0	ARID3C	34613425	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.574000	0.53863	1.911000	0.55334	0.368000	0.22195	AAA		0.592	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		C	34623425	T	C	34623425	3	2	237	1	0	0	0	0	1	0	0	0	918	1792	62	4	391	4	ARID3C	9	34623425	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08		34623425	106590006	55	16731											
FAM75A6	389730	broad.mit.edu	37	chr9	43628658	43628658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagttgtgaaagaaggtccGaagtctcctccaggcctctc	9	9	11	12	1	2	2	0	1	2	1	6	3	4	2	4	2	0	2	4	2	3	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:43628658G>A	ENST00000332857.6	-	3	312	c.284C>T	c.(283-285)tCg>tTg	p.S95L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	95					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGAAGGTCCGAAGTCTCCTC	0.612																																						uc011lrb.2																			0				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						c.(283-285)tCg>tTg		Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.																																				SO:0001583	missense	389730					integral to membrane		g.chr9:43628658G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.284C>T	9.37:g.43628658G>A	ENSP00000329825:p.Ser95Leu						p.S95L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			2	313	-			95						Missense_Mutation	SNP	ENST00000332857.6	37	c.284C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.609414	0.00842	.	.	ENSG00000185775	ENST00000332857	T	0.03468	3.92	1.69	-3.38	0.04883	.	3.286340	0.00937	N	0.002794	T	0.01320	0.0043	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42732	-0.9434	10	0.25106	T	0.35	.	1.3825	0.02233	0.1598:0.1824:0.1589:0.499	.	95	Q5VVP1	F75A6_HUMAN	L	95	ENSP00000329825:S95L	ENSP00000329825:S95L	S	-	2	0	FAM75A6	43568654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.888000	0.00092	-2.257000	0.00695	-2.920000	0.00090	TCG		0.612	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		A	43628658	G	A	43628658	3	1	237	1	0	0	0	0	1	0	0	0	5622	1059	37	2	3755	2	FAM75A6	9	43628658	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	9005233	43628658	97584773	56	16732											
SLC28A3	64078	broad.mit.edu	37	chr9	86928326	86928326	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctctgcttcttattgagTtgtttcctgatgtgttctcg	4	19	9	9	1	3	2	0	2	3	0	5	2	4	2	1	0	2	5	1	0	1	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:86928326T>A	ENST00000376238.4	-	2	153	c.104A>T	c.(103-105)aAc>aTc	p.N35I	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	35					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCTTATTGAGTTGTTTCCTGA	0.418																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.3																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(103-105)aAc>aTc		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.							286	225	246					9																	86928326		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86928326T>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.104A>T	9.37:g.86928326T>A	ENSP00000365413:p.Asn35Ile					SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.3_5'UTR	p.N35I	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN			1	250	-			35					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.104A>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	8.997	0.979091	0.18812	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	3.31	1.02	0.19986	.	0.949940	0.08767	N	0.896855	T	0.01905	0.0060	L	0.40543	1.245	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.46803	-0.9165	10	0.38643	T	0.18	-2.4694	4.6915	0.12783	0.0:0.2728:0.0:0.7272	.	35	Q9HAS3	S28A3_HUMAN	I	35	ENSP00000365413:N35I	ENSP00000365413:N35I	N	-	2	0	SLC28A3	86118146	0.030000	0.19436	0.001000	0.08648	0.008000	0.06430	0.554000	0.23407	0.214000	0.20742	0.460000	0.39030	AAC		0.418	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		A	86928326	T	A	86928326	3	1	237	1	0	0	0	0	1	0	0	0	14533	1725	60	5	2039	5	SLC28A3	9	86928326	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	43299668	86928326	54285105	57	16733											
ROR2	4920	broad.mit.edu	37	chr9	94487296	94487296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccccggggcagggcCgaacaggtgacctttgtaga	7	7	14	13	2	0	2	0	1	0	1	1	3	1	2	4	4	2	3	4	4	2	2	rs138310082	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:94487296C>T	ENST00000375708.3	-	9	1678	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	ROR2_ENST00000375715.1_Missense_Mutation_p.G354S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCAGGGCCGAACAGGTGA	0.602													C|||	2	0.000399361	0.0015	0	5008	,	,		15866	0		0	False		,,,				2504	0					uc004arj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1480-1482)Ggc>Agc		Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.		C	SER/GLY	4,4402	8.1+/-20.4	0,4,2199	148	174	165		1480	4.5	0.4	9	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ROR2	NM_004560.3	56	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	494/944	94487296	5,13001	2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94487296C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1480G>A	9.37:g.94487296C>T	ENSP00000364860:p.Gly494Ser					ROR2_uc004ari.1_Missense_Mutation_p.G354S	p.G494S	NM_004560	NP_004551	Q01974	ROR2_HUMAN			8	1679	-			494			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1480G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063374	0.20067	9.08E-4	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.82803	-1.65;-1.65	4.47	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42964	D	0.000623	D	0.85102	0.5620	L	0.35723	1.085	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.87578	0.998;0.237	T	0.79220	-0.1893	10	0.06494	T	0.89	.	17.7014	0.88295	0.0:1.0:0.0:0.0	.	494;354	Q01974;B1APY4	ROR2_HUMAN;.	S	354;494	ENSP00000364867:G354S;ENSP00000364860:G494S	ENSP00000364860:G494S	G	-	1	0	ROR2	93527117	0.999000	0.42202	0.413000	0.26509	0.035000	0.12851	4.328000	0.59253	2.478000	0.83669	0.491000	0.48974	GGC		0.602	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			T	94487296	C	T	94487296	3	4	237	1	0	0	0	0	1	0	0	0	13527	652	23	2	1355	2	ROR2	9	94487296	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	7558970	94487296	46726135	58	16734											
ZBTB34	403341	broad.mit.edu	37	chr9	129643102	129643102	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagaacagatgtgtacgTggaacagaaactagaaaatg	18	6	12	5	2	0	4	0	0	0	4	0	7	0	5	0	1	4	1	0	1	7	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:129643102T>G	ENST00000373452.2	+	1	1476	c.1412T>G	c.(1411-1413)gTg>gGg	p.V471G	ZBTB34_ENST00000319119.4_Missense_Mutation_p.V475G			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATGTGTACGTGGAACAGAAA	0.507																																						uc022bnn.1																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(1411-1413)gTg>gGg		Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.							50	51	51					9																	129643102		2021	4192	6213	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129643102T>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.1412T>G	9.37:g.129643102T>G	ENSP00000362551:p.Val471Gly					ZBTB34_uc004bqm.4_Missense_Mutation_p.V471G	p.V471G	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			0	1412	+			471					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.1412T>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	T	2.190	-0.385594	0.04966	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.09350	2.99;2.99	5.63	0.45	0.16624	.	1.187540	0.05825	N	0.616407	T	0.07188	0.0182	N	0.19112	0.55	0.47094	D	0.999311	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	10	0.26408	T	0.33	.	5.8453	0.18663	0.0:0.2488:0.2406:0.5106	.	471	Q8NCN2	ZBT34_HUMAN	G	475;471	ENSP00000317534:V475G;ENSP00000362551:V471G	ENSP00000317534:V475G	V	+	2	0	ZBTB34	128682923	0.010000	0.17322	0.650000	0.29550	0.987000	0.75469	-0.030000	0.12308	0.080000	0.16959	0.459000	0.35465	GTG		0.507	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		G	129643102	T	G	129643102	3	3	237	1	0	0	0	0	1	0	0	0	17534	1696	59	5	1414	5	ZBTB34	9	129643102	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	35155806	129643102	11570329	59	16735											
PRDM12	59335	broad.mit.edu	37	chr9	133556658	133556658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccacccggcggactcgGcggctggccccgcgggccgc	3	4	15	19	7	0	0	0	0	0	0	2	1	1	1	5	6	0	1	5	6	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:133556658G>A	ENST00000253008.2	+	5	766	c.706G>A	c.(706-708)Gcg>Acg	p.A236T		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	236					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCGGACTCGGCGGCTGGCCC	0.726																																						uc004bzt.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(706-708)Gcg>Acg		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							6	7	7					9																	133556658		1429	3221	4650	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133556658G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.706G>A	9.37:g.133556658G>A	ENSP00000253008:p.Ala236Thr						p.A236T	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	4	766	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	236					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.706G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387416	0.42308	.	.	ENSG00000130711	ENST00000253008	T	0.08807	3.05	4.31	4.31	0.51392	.	0.161004	0.40728	N	0.001025	T	0.07188	0.0182	L	0.39898	1.24	0.38069	D	0.936308	B	0.17038	0.02	B	0.14578	0.011	T	0.17623	-1.0363	10	0.10377	T	0.69	-32.2489	11.7762	0.51987	0.0:0.178:0.822:0.0	.	236	Q9H4Q4	PRD12_HUMAN	T	236	ENSP00000253008:A236T	ENSP00000253008:A236T	A	+	1	0	PRDM12	132546479	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.744000	0.55112	1.954000	0.56735	0.561000	0.74099	GCG		0.726	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		A	133556658	G	A	133556658	3	1	237	1	0	0	0	0	1	0	0	0	12453	1203	42	3	724	3	PRDM12	9	133556658	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	3913556	133556658	7656773	60	16736											
ITGA8	8516	broad.mit.edu	37	chr10	15701007	15701007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctctacctgttctccCgtgaaattctgaataaacgt	11	14	6	10	2	3	2	0	2	3	0	5	2	3	2	2	0	2	1	2	0	6	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:15701007C>T	ENST00000378076.3	-	10	1292	c.939G>A	c.(937-939)acG>acA	p.T313T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	313					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGTTCTCCCGTGAAATTCT	0.328																																						uc001ioc.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(937-939)acG>acA		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							49	52	51					10																	15701007		2202	4299	6501	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15701007C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.939G>A	10.37:g.15701007C>T						ITGA8_uc010qcb.1_Silent_p.T298T	p.T313T	NM_003638	NP_003629	P53708	ITA8_HUMAN			9	939	-			313					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.939G>A	CCDS31155.1																																																																																				0.328	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		T	15701007	C	T	15701007	2	4	237	1	0	0	0	0	0	0	0	1	7882	639	23	2		2	ITGA8	10	15701007	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		15701007	119833740	61	16737											
PTCHD3	374308	broad.mit.edu	37	chr10	27702997	27702997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgcatcctgctccgaCgccaggggtcctgagggttc	5	8	16	12	2	0	1	0	1	0	0	4	2	3	1	4	5	2	3	4	5	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:27702997C>T	ENST00000438700.3	-	1	300	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	61					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCTCCGACGCCAGGGGTC	0.687																																						uc001itu.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(181-183)gcG>gcA		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							29	40	36					10																	27702997		2189	4289	6478	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702997C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.183G>A	10.37:g.27702997C>T							p.A61A	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			0	301	-			61					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.183G>A	CCDS31173.1																																																																																				0.687	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702997	C	T	27702997	2	4	237	1	0	0	0	0	0	0	0	1	12734	523	19	1		1	PTCHD3	10	27702997	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	12001990	27702997	107831750	62	16738											
PTEN	5728	broad.mit.edu	37	chr10	89717691	89717691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgggaagacaagttcaTgtactttgagttccctcagc	11	10	10	10	2	2	2	2	1	0	1	3	4	3	3	1	1	2	3	1	1	3	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:89717691T>G	ENST00000371953.3	+	7	2073	c.716T>G	c.(715-717)aTg>aGg	p.M239R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	239	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R234fs*9(1)|p.K237_Y240>N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAGTTCATGTACTTTGAG	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		50	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(4)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(715-717)aTg>aGg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							152	130	137					10																	89717691		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717691T>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.716T>G	10.37:g.89717691T>G	ENSP00000361021:p.Met239Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.M239R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1748	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	239			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.716T>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123953	0.77436	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.038168	0.85682	D	0.000000	D	0.84460	0.5477	L	0.56769	1.78	0.80722	D	1	P	0.48911	0.917	P	0.45167	0.472	D	0.84462	0.0594	9	.	.	.	-3.0578	14.9657	0.71193	0.0:0.0:0.0:1.0	.	239	P60484	PTEN_HUMAN	R	239	ENSP00000361021:M239R	.	M	+	2	0	PTEN	89707671	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.661000	0.83786	1.928000	0.55862	0.477000	0.44152	ATG		0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89717691	T	G	89717691	3	3	237	1	0	0	0	0	1	0	0	0	12738	1464	51	5	742	5	PTEN	10	89717691	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	62014694	89717691	45817056	63	16739											
NFKB2	4791	broad.mit.edu	37	chr10	104156679	104156679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctgtaactacgagggaCcagccaagatcgaggtggac	13	6	13	9	2	1	2	0	0	1	2	2	6	1	4	2	3	3	1	2	3	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:104156679C>T	ENST00000369966.3	+	6	512	c.262C>T	c.(262-264)Cca>Tca	p.P88S	NFKB2_ENST00000189444.6_Missense_Mutation_p.P88S|NFKB2_ENST00000428099.1_Missense_Mutation_p.P88S	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	88	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CTACGAGGGACCAGCCAAGAT	0.602			T	IGH@	B-NHL																																	uc001kvb.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(262-264)Cca>Tca		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.							66	71	69					10																	104156679		2091	4209	6300	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104156679C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.262C>T	10.37:g.104156679C>T	ENSP00000358983:p.Pro88Ser					NFKB2_uc001kva.3_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.3_Missense_Mutation_p.P88S|NFKB2_uc009xxc.3_Missense_Mutation_p.P88S	p.P88S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	5	527	+		Colorectal(252;0.00957)	88			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.262C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319968	0.23994	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.41400	1.0;1.0;1.0	5.15	5.15	0.70609	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.382832	0.28921	N	0.013717	T	0.37679	0.1012	L	0.49513	1.565	0.34210	D	0.674213	B;P;B	0.43662	0.024;0.814;0.105	B;B;B	0.38954	0.01;0.286;0.053	T	0.56709	-0.7934	10	0.46703	T	0.11	.	12.807	0.57619	0.2758:0.7242:0.0:0.0	.	88;88;88	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	S	88	ENSP00000410256:P88S;ENSP00000358983:P88S;ENSP00000189444:P88S	ENSP00000189444:P88S	P	+	1	0	NFKB2	104146669	0.026000	0.19158	0.976000	0.42696	0.965000	0.64279	1.183000	0.32041	2.369000	0.80426	0.561000	0.74099	CCA		0.602	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104156679	C	T	104156679	3	4	237	1	0	0	0	0	1	0	0	0	10376	507	18	3	280	3	NFKB2	10	104156679	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	14438988	104156679	31378068	64	16740											
LRRC56	115399	broad.mit.edu	37	chr11	554078	554078	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcagtccagggggcgTcggctccgagtcctgggcag	5	6	17	13	3	0	0	0	0	0	0	4	2	3	0	4	4	1	3	4	4	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:554078T>C	ENST00000270115.7	+	14	1931	c.1431T>C	c.(1429-1431)cgT>cgC	p.R477R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	477										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGGGGCGTCGGCTCCGAG	0.697																																						uc010qvz.2																			0				kidney(1)|lung(4)|skin(1)	6						c.(1429-1431)cgT>cgC		Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.							46	52	50					11																	554078		2202	4298	6500	SO:0001819	synonymous_variant	115399							g.chr11:554078T>C		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1431T>C	11.37:g.554078T>C							p.R477R	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1936	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	477					Q8N3Q4	Silent	SNP	ENST00000270115.7	37	c.1431T>C	CCDS7700.1																																																																																				0.697	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		C	554078	T	C	554078	2	2	237	1	0	0	0	0	0	0	0	1	9012	1654	58	4		4	LRRC56	11	554078	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08		554078	134452438	65	16741											
WEE1	7465	broad.mit.edu	37	chr11	9608358	9608358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaagagtgcagaacaattacGaatagaattgaatgccgaaa	20	7	9	5	2	0	4	0	1	0	3	0	6	0	4	1	0	4	1	1	0	9	3	rs369658374		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:9608358G>C	ENST00000450114.2	+	10	1995	c.1742G>C	c.(1741-1743)cGa>cCa	p.R581P	WEE1_ENST00000299613.6_Missense_Mutation_p.R367P	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	581					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACAATTACGAATAGAATTG	0.348																																						uc001mhs.3																			0		p.L580F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(1741-1743)cGa>cCa		Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.							49	50	50					11																	9608358		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608358G>C	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1742G>C	11.37:g.9608358G>C	ENSP00000402084:p.Arg581Pro					WEE1_uc001mht.3_Missense_Mutation_p.R367P	p.R581P	NM_003390	NP_001137448	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1995	+			581					B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1742G>C	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345033	0.82022	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712;ENST00000527848	T;T;T;T	0.55052	0.54;1.15;1.67;0.65	5.84	5.84	0.93424	Protein kinase-like domain (1);	0.070622	0.56097	D	0.000024	T	0.69024	0.3065	M	0.69823	2.125	0.53005	D	0.999962	D	0.76494	0.999	D	0.72982	0.979	T	0.65726	-0.6098	10	0.31617	T	0.26	-6.7935	13.3461	0.60573	0.0719:0.0:0.9281:0.0	.	581	P30291	WEE1_HUMAN	P	581;367;187;33	ENSP00000402084:R581P;ENSP00000299613:R367P;ENSP00000434148:R187P;ENSP00000432284:R33P	ENSP00000299613:R367P	R	+	2	0	WEE1	9564934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.010000	0.93611	2.758000	0.94735	0.591000	0.81541	CGA		0.348	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		C	9608358	G	C	9608358	3	2	237	1	0	0	0	0	1	0	0	0	17341	1058	37	5	1780	5	WEE1	11	9608358	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	9054280	9608358	125398158	66	16742											
CHRM4	1132	broad.mit.edu	37	chr11	46407321	46407321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgcagctcctcccgggCggcctccccgggcgggggct	2	6	16	17	5	0	0	0	0	0	0	3	0	3	0	5	5	2	3	5	5	0	1	rs201837786		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:46407321C>T	ENST00000433765.2	-	1	786	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	263					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCTCCCGGGCGGCCTCCCCG	0.682																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(787-789)Gcc>Acc		Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						11	13	12					11																	46407321		1858	4030	5888	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407321C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.787G>A	11.37:g.46407321C>T	ENSP00000409378:p.Ala263Thr						p.A263T	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	0	787	-			263					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.787G>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.605896	0.00842	.	.	ENSG00000180720	ENST00000433765	T	0.58652	0.32	4.3	-1.25	0.09405	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28101	0.0693	N	0.05230	-0.09	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.12811	-1.0533	9	0.26408	T	0.33	.	2.9216	0.05771	0.2549:0.4864:0.1174:0.1414	.	263	P08173	ACM4_HUMAN	T	263	ENSP00000409378:A263T	ENSP00000409378:A263T	A	-	1	0	CHRM4	46363897	0.002000	0.14202	0.002000	0.10522	0.041000	0.13682	0.699000	0.25586	-0.456000	0.07043	-0.358000	0.07595	GCC		0.682	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		T	46407321	C	T	46407321	3	4	237	1	0	0	0	0	1	0	0	0	3379	768	27	1	656	1	CHRM4	11	46407321	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	36798963	46407321	88599195	67	16743											
OR8H3	390152	broad.mit.edu	37	chr11	55890095	55890095	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcgtcacacctaaaaccTtagcgaacttactgacttcc	11	11	5	14	2	1	1	1	1	0	0	3	2	2	1	3	0	4	0	3	0	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:55890095T>A	ENST00000313472.3	+	1	247	c.247T>A	c.(247-249)Tta>Ata	p.L83I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACCTAAAACCTTAGCGAACTT	0.438																																						uc001nii.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(247-249)Tta>Ata		Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.							304	299	301					11																	55890095		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890095T>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.247T>A	11.37:g.55890095T>A	ENSP00000323928:p.Leu83Ile						p.L83I	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			0	247	+	Esophageal squamous(21;0.00693)		83					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.247T>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	9.191	1.025920	0.19512	.	.	ENSG00000181761	ENST00000313472	T	0.00438	7.42	3.44	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000943	T	0.00412	0.0013	M	0.77103	2.36	0.09310	N	1	B	0.27679	0.185	B	0.32342	0.144	T	0.42799	-0.9430	10	0.54805	T	0.06	.	7.5182	0.27612	0.1634:0.6465:0.0:0.1901	.	83	Q8N146	OR8H3_HUMAN	I	83	ENSP00000323928:L83I	ENSP00000323928:L83I	L	+	1	2	OR8H3	55646671	0.000000	0.05858	0.505000	0.27651	0.251000	0.25915	-1.062000	0.03468	-0.402000	0.07633	0.145000	0.16022	TTA		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55890095	T	A	55890095	3	1	237	1	0	0	0	0	1	0	0	0	11239	1606	56	5	249	5	OR8H3	11	55890095	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	9482774	55890095	79116421	68	16744											
OR5M11	219487	broad.mit.edu	37	chr11	56310099	56310099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcataggacaccaagacgAtggtgagggagctggagagg	13	4	18	6	1	0	3	0	1	0	2	0	7	0	5	1	6	1	2	1	6	2	1	rs570645003		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:56310099A>T	ENST00000528616.2	-	1	658	c.635T>A	c.(634-636)aTc>aAc	p.I212N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACCAAGACGATGGTGAGGGA	0.502													A|||	1	0.000199681	8e-04	0	5008	,	,		22756	0		0	False		,,,				2504	0					uc010rjl.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(634-636)aTc>aAc		Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.							69	70	70					11																	56310099		2074	4233	6307	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310099A>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.635T>A	11.37:g.56310099A>T	ENSP00000432417:p.Ile212Asn					OR8U8_uc001nit.2_Intron	p.I212N	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			0	635	-			212					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.635T>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228286	0.58777	.	.	ENSG00000255223	ENST00000528616	T	0.44881	0.91	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.67496	0.2899	M	0.86864	2.845	0.35129	D	0.767781	D	0.60575	0.988	D	0.71414	0.973	T	0.80507	-0.1352	9	0.87932	D	0	.	13.5523	0.61738	1.0:0.0:0.0:0.0	.	212	Q96RB7	OR5MB_HUMAN	N	212	ENSP00000432417:I212N	ENSP00000432417:I212N	I	-	2	0	OR5M11	56066675	0.097000	0.21791	1.000000	0.80357	0.896000	0.52359	2.875000	0.48491	2.076000	0.62316	0.514000	0.50259	ATC		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		T	56310099	A	T	56310099	3	4	237	1	0	0	0	0	1	0	0	0	11174	333	12	5	285	5	OR5M11	11	56310099	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	420004	56310099	78696417	69	16745											
AHNAK	79026	broad.mit.edu	37	chr11	62297453	62297453	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcaggagcttttatcTctccttctacttttggaact	9	16	5	11	0	3	0	1	0	2	0	5	2	4	2	1	2	4	1	1	2	4	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:62297453T>A	ENST00000378024.4	-	5	4710	c.4436A>T	c.(4435-4437)gAg>gTg	p.E1479V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1479					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTTTTATCTCTCCTTCTAC	0.418																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4435-4437)gAg>gTg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							163	169	167					11																	62297453		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297453T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4436A>T	11.37:g.62297453T>A	ENSP00000367263:p.Glu1479Val					AHNAK_uc001ntk.1_Intron	p.E1479V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	4736	-		Melanoma(852;0.155)	1479					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4436A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	12.36	1.913645	0.33815	.	.	ENSG00000124942	ENST00000378024	T	0.05996	3.36	4.47	4.47	0.54385	.	.	.	.	.	T	0.28234	0.0697	M	0.89840	3.065	0.40013	D	0.975316	D	0.61697	0.99	D	0.63488	0.915	T	0.24584	-1.0156	9	0.56958	D	0.05	.	13.4741	0.61297	0.0:0.0:0.0:1.0	.	1479	Q09666	AHNK_HUMAN	V	1479	ENSP00000367263:E1479V	ENSP00000367263:E1479V	E	-	2	0	AHNAK	62054029	.	.	0.783000	0.31826	0.019000	0.09904	.	.	1.663000	0.50791	0.449000	0.29647	GAG		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62297453	T	A	62297453	3	1	237	1	0	0	0	0	1	0	0	0	414	1551	54	5	13356	5	AHNAK	11	62297453	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	5987354	62297453	72709063	70	16746											
PLCB3	5331	broad.mit.edu	37	chr11	64024115	64024115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtccatggagggctttagCcgctacctgggaggcgagga	8	8	16	9	2	0	0	0	0	0	0	1	4	1	3	3	5	2	2	3	5	2	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64024115C>T	ENST00000540288.1	+	10	994	c.891C>T	c.(889-891)agC>agT	p.S297S	PLCB3_ENST00000325234.5_Silent_p.S230S|PLCB3_ENST00000279230.6_Silent_p.S297S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	297					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGCTTTAGCCGCTACCTGG	0.632																																						uc009ypi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(889-891)agC>agT		Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.							102	94	96					11																	64024115		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64024115C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.891C>T	11.37:g.64024115C>T						PLCB3_uc009ypg.2_Silent_p.S297S|PLCB3_uc009yph.2_Silent_p.S230S	p.S297S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			9	1018	+			297					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.891C>T	CCDS8064.1																																																																																				0.632	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64024115	C	T	64024115	2	4	237	1	0	0	0	0	0	0	0	1	12029	738	26	3		3	PLCB3	11	64024115	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1726662	64024115	70982401	71	16747											
ATG2A	23130	broad.mit.edu	37	chr11	64668368	64668368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacctgtggccggggTgggggccaaagtctcggccc	4	7	15	15	2	2	0	1	0	1	0	4	0	3	0	5	6	0	0	5	6	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64668368T>G	ENST00000377264.3	-	30	4428	c.4316A>C	c.(4315-4317)cAc>cCc	p.H1439P	ATG2A_ENST00000421419.2_Missense_Mutation_p.H1441P	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1439					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGCCGGGGTGGGGGCCAAA	0.657																																						uc001obx.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4315-4317)cAc>cCc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							8	9	9					11																	64668368		2134	4214	6348	SO:0001583	missense	23130						protein binding	g.chr11:64668368T>G		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4316A>C	11.37:g.64668368T>G	ENSP00000366475:p.His1439Pro					ATG2A_uc001obw.3_Missense_Mutation_p.H204P	p.H1439P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			29	4431	-			1439					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4316A>C	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430370	0.43122	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06528	3.29;3.29	5.22	4.08	0.47627	.	0.217783	0.38663	N	0.001605	T	0.07548	0.0190	L	0.36672	1.1	0.32490	N	0.540327	P;P	0.51351	0.907;0.944	B;P	0.47470	0.346;0.548	T	0.18871	-1.0323	10	0.30854	T	0.27	.	8.6502	0.34029	0.17:0.0:0.0:0.83	.	1439;1441	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	P	1441;1439	ENSP00000410522:H1441P;ENSP00000366475:H1439P	ENSP00000366475:H1439P	H	-	2	0	ATG2A	64424944	1.000000	0.71417	0.994000	0.49952	0.749000	0.42624	1.253000	0.32886	0.912000	0.36772	0.459000	0.35465	CAC		0.657	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		G	64668368	T	G	64668368	3	3	237	1	0	0	0	0	1	0	0	0	1093	1696	59	5	1548	5	ATG2A	11	64668368	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	644253	64668368	70338148	72	16748											
TMPRSS4	56649	broad.mit.edu	37	chr11	117975409	117975409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctttcctcccagtccGcctctccaaggaccgatcca	6	10	7	18	2	1	0	0	0	1	0	7	2	6	1	8	2	0	1	8	2	1	2	rs140457645		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:117975409G>A	ENST00000437212.3	+	5	528	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.R103H|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.R105H|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.R65H			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	105	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCCCAGTCCGCCTCTCCAAG	0.587													G|||	1	0.000199681	0	0	5008	,	,		17468	0		0	False		,,,				2504	0.001					uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(313-315)cGc>cAc		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	69	68	68		314,308,194,314	4.4	1	11	dbSNP_134	68	0,8592		0,0,4296	yes	missense,missense,missense,missense	TMPRSS4	NM_001083947.1,NM_001173551.1,NM_001173552.1,NM_019894.3	29,29,29,29	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	105/433,103/436,65/398,105/438	117975409	2,12990	2200	4296	6496	SO:0001583	missense	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117975409G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.314G>A	11.37:g.117975409G>A	ENSP00000416037:p.Arg105His					TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxo.2_Missense_Mutation_p.R103H|TMPRSS4_uc010rxs.2_Missense_Mutation_p.R65H|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.R80H|TMPRSS4_uc010rxt.2_Missense_Mutation_p.R80H	p.R105H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	4	605	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	105			SRCR.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	c.314G>A	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912666	0.72983	4.55E-4	0.0	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.3	4.39	0.52855	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000018	D	0.86531	0.5955	M	0.87900	2.915	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.982;0.998;0.999;0.999	D	0.87830	0.2644	10	0.72032	D	0.01	.	11.1706	0.48569	0.0871:0.0:0.9129:0.0	.	80;65;105;103	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	H	103;65;105;105;52	ENSP00000435184:R103H;ENSP00000429209:R65H;ENSP00000416037:R105H;ENSP00000430547:R105H;ENSP00000428407:R52H	ENSP00000416037:R105H	R	+	2	0	TMPRSS4	117480619	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	3.558000	0.53749	1.243000	0.43853	0.557000	0.71058	CGC		0.587	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		A	117975409	G	A	117975409	3	1	237	1	0	0	0	0	1	0	0	0	16246	1087	38	1	332	1	TMPRSS4	11	117975409	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	53307041	117975409	17031107	73	16749											
C11orf63	79864	broad.mit.edu	37	chr11	122775064	122775064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacattttgtggaaaaaaAcaagctcactttgggattac	16	11	7	7	0	1	0	1	0	0	0	1	2	1	2	0	2	4	1	0	2	6	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:122775064A>G	ENST00000531316.1	+	2	868	c.776A>G	c.(775-777)aAc>aGc	p.N259S	C11orf63_ENST00000227349.2_Missense_Mutation_p.N259S|C11orf63_ENST00000307257.6_Missense_Mutation_p.N259S			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	259					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTGGAAAAAAACAAGCTCACT	0.463																																						uc001pym.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(775-777)aAc>aGc		Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.							145	155	151					11																	122775064		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122775064A>G	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.776A>G	11.37:g.122775064A>G	ENSP00000431669:p.Asn259Ser					C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	p.N259S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	1073	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	259					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.776A>G	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327265	0.81690	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.61158	0.13;0.13	5.74	5.74	0.90152	.	0.077200	0.53938	D	0.000042	T	0.73697	0.3620	M	0.70595	2.14	0.42829	D	0.994012	D;D	0.76494	0.998;0.999	D;D	0.66847	0.911;0.947	T	0.77046	-0.2733	10	0.66056	D	0.02	-31.4554	14.6058	0.68478	1.0:0.0:0.0:0.0	.	259;259	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	S	259	ENSP00000227349:N259S;ENSP00000431669:N259S	ENSP00000227349:N259S	N	+	2	0	C11orf63	122280274	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.918000	0.69996	2.183000	0.69458	0.528000	0.53228	AAC		0.463	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		G	122775064	A	G	122775064	3	3	237	1	0	0	0	0	1	0	0	0	1654	43	2	4	782	4	C11orf63	11	122775064	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	4799655	122775064	12231452	74	16750											
NR4A1	3164	broad.mit.edu	37	chr12	52451228	52451228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcggggactggattgacaGtatcctggccttctcaaggt	7	12	12	10	1	1	1	1	1	1	0	4	3	2	3	2	5	0	1	2	5	2	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:52451228G>A	ENST00000243050.1	+	7	1768	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	NR4A1_ENST00000545748.1_Missense_Mutation_p.S539N|NR4A1_ENST00000394824.2_Missense_Mutation_p.S485N|NR4A1_ENST00000360284.3_Missense_Mutation_p.S498N|NR4A1_ENST00000550082.1_Missense_Mutation_p.S498N|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.S485N	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	485					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGGATTGACAGTATCCTGGCC	0.612																																						uc001rzs.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1453-1455)aGt>aAt		Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.							138	123	128					12																	52451228		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451228G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1454G>A	12.37:g.52451228G>A	ENSP00000243050:p.Ser485Asn					NR4A1_uc010sno.2_Missense_Mutation_p.S498N|NR4A1_uc001rzt.3_Missense_Mutation_p.S485N|NR4A1_uc009zmc.3_Missense_Mutation_p.V99I	p.S485N	NM_002135	NP_775180	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	6	1773	+			485					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1454G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864116	0.51482	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.12	4.22	0.49857	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.156813	0.64402	N	0.000019	D	0.94364	0.8188	M	0.73962	2.25	0.43430	D	0.995595	B;B	0.12013	0.001;0.005	B;B	0.15052	0.008;0.012	D	0.91497	0.5216	10	0.45353	T	0.12	.	7.2359	0.26070	0.0925:0.2806:0.6269:0.0	.	498;485	B4DML7;P22736	.;NR4A1_HUMAN	N	498;539;498;485;485;485	ENSP00000353427:S498N;ENSP00000440864:S539N;ENSP00000449539:S498N;ENSP00000243050:S485N;ENSP00000378302:S485N;ENSP00000378301:S485N	ENSP00000243050:S485N	S	+	2	0	NR4A1	50737495	0.981000	0.34729	1.000000	0.80357	0.980000	0.70556	3.029000	0.49712	1.508000	0.48769	0.655000	0.94253	AGT		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52451228	G	A	52451228	3	1	237	1	0	0	0	0	1	0	0	0	10632	1029	36	3	1472	3	NR4A1	12	52451228	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		52451228	81400667	75	16751											
AGAP2	116986	broad.mit.edu	37	chr12	58124715	58124715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtccatctccttgcCgtgggtactgtggatgtaat	8	12	11	10	1	1	0	0	0	1	0	3	1	2	1	3	2	3	3	3	2	3	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:58124715C>A	ENST00000547588.1	-	11	2166	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	AGAP2_ENST00000257897.3_Missense_Mutation_p.G387C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	723	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTCCTTGCCGTGGGTACTG	0.582																																						uc001spq.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(2167-2169)Ggc>Tgc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.							35	32	33					12																	58124715		2202	4298	6500	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124715C>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2167G>T	12.37:g.58124715C>A	ENSP00000449241:p.Gly723Cys					AGAP2_uc001spp.3_Missense_Mutation_p.G723C|AGAP2_uc001spr.3_Missense_Mutation_p.G387C	p.G723C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			10	2167	-			723			PH.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.2167G>T	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.792430|3.792430	0.70452|0.70452	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129|ENST00000328568	T;T;T|.	0.78707|.	-1.2;-1.2;-1.2|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.72228|0.72228	-0.4354|-0.4354	10|5	0.87932|.	D|.	0|.	.|.	17.5626|17.5626	0.87911|0.87911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	387;723;723|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	C|L	387;723;79|586	ENSP00000257897:G387C;ENSP00000449241:G723C;ENSP00000446683:G79C|.	ENSP00000257897:G387C|.	G|R	-|-	1|2	0|0	AGAP2|AGAP2	56410982|56410982	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.416000|0.416000	0.31233|0.31233	7.335000|7.335000	0.79234|0.79234	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.582	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		A	58124715	C	A	58124715	3	1	237	1	0	0	0	0	1	0	0	0	368	652	23	5	1447	5	AGAP2	12	58124715	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	5673487	58124715	75727180	76	16752											
TDG	6996	broad.mit.edu	37	chr12	104377129	104377129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaggttaagaacttggaaTttgggcttcagccccataag	13	11	10	7	0	1	1	1	0	0	1	1	2	1	2	2	3	2	2	2	3	6	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:104377129T>A	ENST00000392872.3	+	7	988	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TDG_ENST00000544861.1_Missense_Mutation_p.F109I|TDG_ENST00000542036.1_Missense_Mutation_p.F48I|TDG_ENST00000266775.9_Missense_Mutation_p.F248I|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	252					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAACTTGGAATTTGGGCTTCA	0.299								Base excision repair (BER), DNA glycosylases																														uc001tkg.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(754-756)Ttt>Att	Base excision repair (BER), DNA glycosylases	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.							45	46	45					12																	104377129		2189	4284	6473	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377129T>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.754T>A	12.37:g.104377129T>A	ENSP00000376611:p.Phe252Ile					TDG_uc009zuk.3_Missense_Mutation_p.F248I|TDG_uc010swi.2_Missense_Mutation_p.F109I|TDG_uc010swj.2_Missense_Mutation_p.F40I	p.F252I	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	6	977	+			252					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.754T>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037932	0.93630	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.35414	1.06	0.80722	D	1	D;P;P	0.71674	0.998;0.893;0.951	P;P;P	0.62382	0.901;0.702;0.779	T	0.50381	-0.8835	10	0.46703	T	0.11	-19.1921	15.4266	0.75055	0.0:0.0:0.0:1.0	.	48;252;252	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	I	252;248;109;245;48	ENSP00000376611:F252I;ENSP00000266775:F248I;ENSP00000445899:F109I;ENSP00000439825:F245I;ENSP00000439054:F48I	ENSP00000266775:F248I	F	+	1	0	TDG	102901259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.982000	0.88131	2.037000	0.60232	0.460000	0.39030	TTT		0.299	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104377129	T	A	104377129	3	1	237	1	0	0	0	0	1	0	0	0	15722	1493	52	5	780	5	TDG	12	104377129	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	46252414	104377129	29474766	77	16753											
BTBD11	121551	broad.mit.edu	37	chr12	108010913	108010913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctcagtggagcatggCgaggagaactactcggaaac	13	5	15	8	2	1	1	1	0	0	1	2	6	1	3	0	5	4	2	0	5	4	1	rs373750144		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:108010913C>T	ENST00000280758.5	+	8	2577	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Silent_p.G683G|BTBD11_ENST00000490090.2_Silent_p.G683G|BTBD11_ENST00000357167.4_Silent_p.G220G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	683						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGCATGGCGAGGAGAACT	0.612													c|||	1	0.000199681	0	0	5008	,	,		17453	0		0	False		,,,				2504	0.001					uc001tmk.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2047-2049)ggC>ggT		Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.		T	,	0,4406		0,0,2203	139	115	123		660,2049	-6.6	0.6	12		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BTBD11	NM_001017523.1,NM_001018072.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	220/642,683/1105	108010913	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108010913C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2049C>T	12.37:g.108010913C>T						BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.3_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G	p.G683G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			7	2570	+			683					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2049C>T	CCDS31893.1																																																																																				0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		T	108010913	C	T	108010913	2	4	237	1	0	0	0	0	0	0	0	1	1539	755	27	1		1	BTBD11	12	108010913	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	3633784	108010913	25840982	78	16754											
KSR2	283455	broad.mit.edu	37	chr12	117993076	117993076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacacggaacggactcTgtccggactaaccttgctgg	9	9	11	12	3	2	0	1	0	1	0	3	3	3	3	2	4	3	1	2	4	2	2	rs554933143		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:117993076T>C	ENST00000339824.5	-	9	2143	c.1416A>G	c.(1414-1416)acA>acG	p.T472T	KSR2_ENST00000302438.5_Silent_p.T169T|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.T443T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	472					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACGGACTCTGTCCGGACTA	0.478																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1327-1329)acA>acG		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							118	122	121					12																	117993076		1964	4155	6119	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117993076T>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1416A>G	12.37:g.117993076T>C							p.T443T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			8	1384	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		472					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1329A>G																																																																																					0.478	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		C	117993076	T	C	117993076	2	2	237	1	0	0	0	0	0	0	0	1	8582	1567	55	4		4	KSR2	12	117993076	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	9982163	117993076	15858819	79	16755											
DIABLO	56616	broad.mit.edu	37	chr12	122702873	122702873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagagagaaaggtagaGgtgctatctgttaccaaaga	14	9	13	5	0	2	4	0	1	2	4	2	6	2	4	1	2	2	3	1	2	5	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:122702873G>T	ENST00000443649.3	-	4	1072	c.255C>A	c.(253-255)acC>acA	p.T85T	DIABLO_ENST00000267169.6_Silent_p.T32T|DIABLO_ENST00000353548.6_Intron|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000464942.2_Silent_p.T32T|DIABLO_ENST00000413918.1_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GAAAGGTAGAGGTGCTATCTG	0.403																																						uc010tab.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(253-255)acC>acA		Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							213	169	184					12																	122702873		2203	4300	6503	SO:0001819	synonymous_variant	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122702873G>T	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"second mitochondria-derived activator of caspase"	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.255C>A	12.37:g.122702873G>T						DIABLO_uc010taa.2_Silent_p.T32T|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	p.T85T	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	1060	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		85	Missing (in Ref. 2; BAB71568).				B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Silent	SNP	ENST00000443649.3	37	c.255C>A	CCDS9228.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223594	0.22457	.	.	ENSG00000184047	ENST00000446652	.	.	.	5.89	3.97	0.46021	.	.	.	.	.	T	0.47911	0.1471	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	.	.	.	1.6012	3.8638	0.09007	0.139:0.2141:0.5269:0.1199	.	.	.	.	I	84	.	.	L	-	1	0	DIABLO	121268826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.807000	0.27140	1.495000	0.48549	0.655000	0.94253	CTC		0.403	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887		T	122702873	G	T	122702873	2	4	237	1	0	0	0	0	0	0	0	1	4517	987	35	5		5	DIABLO	12	122702873	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	4709797	122702873	11149022	80	16756											
GPR133	283383	broad.mit.edu	37	chr12	131593382	131593382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaaggtctttgggtcGgaggacagcaagcaccgtta	10	9	14	8	2	2	1	1	1	1	0	3	3	2	3	1	4	2	3	1	4	3	2	rs60880996	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:131593382G>A	ENST00000261654.5	+	18	2560	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	GPR133_ENST00000543617.1_Silent_p.S186S|GPR133_ENST00000376682.4_Silent_p.S353S|GPR133_ENST00000535015.1_Silent_p.S699S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	667					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607													G|||	11	0.00219649	0.0076	0	5008	,	,		12714	0.001		0	False		,,,				2504	0					uc010tbm.2																			1	Substitution - coding silent(1)	p.S667S(1)	upper_aerodigestive_tract(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2095-2097)tcG>tcA		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.		G		17,4389	24.3+/-50.5	0,17,2186	149	135	140		2001	-9.6	0.1	12	dbSNP_129	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR133	NM_198827.3		0,18,6485	AA,AG,GG		0.0116,0.3858,0.1384		667/875	131593382	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593382G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2001G>A	12.37:g.131593382G>A						GPR133_uc001uit.4_Silent_p.S667S|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.3_Non-coding_Transcript	p.S699S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2656	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		667					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2097G>A	CCDS9272.1																																																																																				0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131593382	G	A	131593382	2	1	237	1	0	0	0	0	0	0	0	1	6643	1103	39	2		2	GPR133	12	131593382	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	8890509	131593382	2258513	81	16757											
ERCC5	2073	broad.mit.edu	37	chr13	103514821	103514821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagatggaaaaggaatacCgtttactgcaacacttgcgt	14	9	11	7	2	0	1	0	0	0	1	0	5	0	3	1	2	5	2	1	2	6	4	rs112825485		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr13:103514821C>T	ENST00000355739.4	+	8	2745	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Silent_p.T866T	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	441					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGGAATACCGTTTACTGCA	0.493			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpu.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"			E					0											c.(2683-2685)cCg>cTg		Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.							106	99	102					13																	103514821		2203	4300	6503	SO:0001583	missense	2073		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103514821C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1322C>T	13.37:g.103514821C>T	ENSP00000347978:p.Pro441Leu					BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.P441L|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.P441L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.P273L	p.P895L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN			15	2806	+			866					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.2684C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	6.501	0.460588	0.12342	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.17854	2.25	5.28	-1.34	0.09143	.	0.910006	0.09336	N	0.816143	T	0.05868	0.0153	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.40175	-0.9577	10	0.27082	T	0.32	0.4692	5.0367	0.14438	0.1401:0.3033:0.0:0.5566	.	441;441;866	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	L	866;441;273	ENSP00000347978:P441L	ENSP00000347978:P441L	P	+	2	0	ERCC5	102312822	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.347000	0.20014	-0.025000	0.13918	-0.218000	0.12543	CCG		0.493	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103514821	C	T	103514821	3	4	237	1	0	0	0	0	1	0	0	0	5216	652	23	2	1352	2	ERCC5	13	103514821	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		103514821	11655057	82	16758											
FSCB	84075	broad.mit.edu	37	chr14	44975414	44975414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatttttctgttgatggAggctctatttcagcagaagc	9	14	12	6	0	3	2	1	1	2	1	3	4	3	4	0	3	2	3	0	3	3	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:44975414A>G	ENST00000340446.4	-	1	1068	c.777T>C	c.(775-777)ccT>ccC	p.P259P	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	259						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGTTGATGGAGGCTCTATTT	0.458																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(775-777)ccT>ccC		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							63	67	65					14																	44975414		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975414A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.777T>C	14.37:g.44975414A>G							p.P259P	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1086	-			259					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.777T>C	CCDS9679.1																																																																																				0.458	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		G	44975414	A	G	44975414	2	3	237	1	0	0	0	0	0	0	0	1	6066	291	11	4		4	FSCB	14	44975414	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08		44975414	62374126	83	16759											
SYT16	83851	broad.mit.edu	37	chr14	62541877	62541877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagccagccaacggcGttattctgagaatctctcct	9	10	11	11	2	2	1	0	1	2	1	4	4	3	3	3	3	3	1	3	3	3	2	rs201294056		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:62541877G>A	ENST00000430451.2	+	3	958	c.761G>A	c.(760-762)cGt>cAt	p.R254H	SYT16_ENST00000446982.2_Missense_Mutation_p.R254H|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	254					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAACGGCGTTATTCTGAG	0.428													G|||	1	0.000199681	0	0	5008	,	,		19116	0.001		0	False		,,,				2504	0					uc001xfu.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(760-762)cGt>cAt		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							35	33	34					14																	62541877		1913	4137	6050	SO:0001583	missense	83851							g.chr14:62541877G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.761G>A	14.37:g.62541877G>A	ENSP00000394700:p.Arg254His					SYT16_uc010tsd.1_Missense_Mutation_p.R254H	p.R254H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	958	+			254					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.761G>A	CCDS45121.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.005	0.555607	0.13436	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.33865	1.39;3.68	5.65	1.63	0.23807	.	0.736572	0.14358	N	0.324636	T	0.19644	0.0472	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.17501	-1.0367	10	0.56958	D	0.05	-17.0882	6.1287	0.20194	0.2082:0.1596:0.6323:0.0	.	254;254	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	254	ENSP00000388023:R254H;ENSP00000394700:R254H	ENSP00000394700:R254H	R	+	2	0	SYT16	61611630	0.995000	0.38212	0.152000	0.22495	0.102000	0.19082	1.051000	0.30417	0.112000	0.17975	-0.150000	0.13652	CGT		0.428	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		A	62541877	G	A	62541877	3	1	237	1	0	0	0	0	1	0	0	0	15469	1145	40	1	771	1	SYT16	14	62541877	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	17566463	62541877	44807663	84	16760											
MAP3K9	4293	broad.mit.edu	37	chr14	71216774	71216774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggcacctcaccagtcagCaactcccaaagtagcacccc	13	4	7	17	0	2	0	2	0	0	0	3	0	3	0	5	1	3	4	5	1	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:71216774C>A	ENST00000554752.2	-	4	1025	c.1026G>T	c.(1024-1026)ttG>ttT	p.L342F	MAP3K9_ENST00000381250.4_Missense_Mutation_p.L342F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.L36F|MAP3K9_ENST00000555993.2_Missense_Mutation_p.L342F|MAP3K9_ENST00000554146.1_Missense_Mutation_p.L79F	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCAGTCAGCAACTCCCAAA	0.488																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1024-1026)ttG>ttT		Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.							113	105	108					14																	71216774		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71216774C>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1026G>T	14.37:g.71216774C>A	ENSP00000451612:p.Leu342Phe					MAP3K9_uc010ttk.2_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.3_Missense_Mutation_p.L36F|MAP3K9_uc001xml.3_Missense_Mutation_p.L342F	p.L342F	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	3	1026	-			342			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1026G>T		.	.	.	.	.	.	.	.	.	.	C	17.43	3.386703	0.61956	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.91	1.91	0.25777	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.82630	2.6	0.52501	D	0.999953	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.90836	0.4720	10	0.87932	D	0	.	2.359	0.04302	0.2368:0.4717:0.143:0.1485	.	79;342;342;36	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	F	342;342;36;342;79;70	ENSP00000451612:L342F;ENSP00000451038:L36F;ENSP00000370649:L342F;ENSP00000451921:L79F	ENSP00000005198:L342F	L	-	3	2	MAP3K9	70286527	0.997000	0.39634	0.997000	0.53966	0.635000	0.38103	0.568000	0.23623	0.058000	0.16222	-0.182000	0.12963	TTG		0.488	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			A	71216774	C	A	71216774	3	1	237	1	0	0	0	0	1	0	0	0	9257	709	25	5	2370	5	MAP3K9	14	71216774	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	8674897	71216774	36132766	85	16761											
CACNA1H	8912	broad.mit.edu	37	chr16	1270781	1270781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagaccctttcttggaCggtagccacagtgtgacccc	8	9	12	12	1	1	2	0	1	1	1	1	4	1	3	4	3	1	1	4	3	1	3	rs369051137		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:1270781C>T	ENST00000348261.5	+	35	7097	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D	CACNA1H_ENST00000565831.1_Silent_p.D2277D|CACNA1H_ENST00000358590.4_Silent_p.D2277D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2283					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTTTCTTGGACGGTAGCCACA	0.652													c|||	1	0.000199681	0	0	5008	,	,		14561	0		0	False		,,,				2504	0.001					uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6847-6849)gaC>gaT		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)		,	0,3784		0,0,1892	53	59	57		6831,6849	1.9	0.1	16		57	1,8235		0,1,4117	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6009	TT,TC,CC		0.0121,0.0,0.0083	,	2277/2348,2283/2354	1270781	1,12019	1892	4118	6010	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270781C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6849C>T	16.37:g.1270781C>T						CACNA1H_uc002ckt.3_Silent_p.D2277D|CACNA1H_uc002cku.3_Silent_p.D978D|CACNA1H_uc010brj.3_Silent_p.D994D|CACNA1H_uc002ckv.3_Silent_p.D972D	p.D2283D	NM_021098	NP_066921	O95180	CAC1H_HUMAN			34	7097	+		Hepatocellular(780;0.00369)	2283					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.6849C>T	CCDS45375.1																																																																																				0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1270781	C	T	1270781	2	4	237	1	0	0	0	0	0	0	0	1	2545	535	19	1		1	CACNA1H	16	1270781	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		1270781	89083972	86	16762											
ZNF263	10127	broad.mit.edu	37	chr16	3339529	3339529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacctcatgaccggtcGcaaggggattgggcgcctcc	8	6	15	12	3	1	2	1	1	0	1	3	4	2	4	4	5	0	1	4	5	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:3339529G>A	ENST00000219069.5	+	6	1899	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Missense_Mutation_p.R175H	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	341					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						ATGACCGGTCGCAAGGGGATT	0.632																																						uc002cuq.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1021-1023)tcG>tcA		Homo sapiens zinc finger protein 263 (ZNF263), mRNA.							42	45	44					16																	3339529		2197	4300	6497	SO:0001819	synonymous_variant	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339529G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1023G>A	16.37:g.3339529G>A						ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	p.S341S	NM_005741	NP_005732	O14978	ZN263_HUMAN			5	1355	+			341					B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	c.1023G>A	CCDS10499.1																																																																																				0.632	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			A	3339529	G	A	3339529	2	1	237	1	0	0	0	0	0	0	0	1	17800	1074	38	1		1	ZNF263	16	3339529	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	2068748	3339529	87015224	87	16763											
IQCK	124152	broad.mit.edu	37	chr16	19729740	19729740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgtgtctctcgcgtcccgcGagctgcctgtctcgtcgtgg	1	11	13	16	7	2	0	0	0	2	0	7	1	3	0	3	1	2	1	3	1	0	0	rs545651391		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:19729740G>C	ENST00000320394.6	+	2	811	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	IQCK_ENST00000564186.1_Missense_Mutation_p.E38Q|IQCK_ENST00000433597.2_5'UTR|KNOP1_ENST00000219837.7_5'Flank|IQCK_ENST00000541926.1_Missense_Mutation_p.E38Q	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	38										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGCGTCCCGCGAGCTGCCTGT	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		10932	0		0	False		,,,				2504	0					uc002dgr.3																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(112-114)Gag>Cag		Homo sapiens IQ motif containing K (IQCK), mRNA.							30	27	28					16																	19729740		2194	4298	6492	SO:0001583	missense	124152							g.chr16:19729740G>C	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.112G>C	16.37:g.19729740G>C	ENSP00000324901:p.Glu38Gln					IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.E38Q|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	p.E38Q	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN			1	811	+			38					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.112G>C	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590987	0.66219	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926	T	0.55760	0.5	4.07	2.08	0.27032	.	0.918530	0.09100	N	0.848681	T	0.54382	0.1855	L	0.50333	1.59	0.27157	N	0.961278	D;P	0.56746	0.977;0.872	P;P	0.52217	0.693;0.555	T	0.42103	-0.9471	9	.	.	.	-2.5223	6.7187	0.23318	0.2163:0.0:0.7837:0.0	.	38;38	B4DXE1;Q8N0W5	.;IQCK_HUMAN	Q	38	ENSP00000324901:E38Q	.	E	+	1	0	IQCK	19637241	0.184000	0.23200	0.003000	0.11579	0.022000	0.10575	3.226000	0.51254	0.484000	0.27630	0.462000	0.41574	GAG		0.652	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		C	19729740	G	C	19729740	3	2	237	1	0	0	0	0	1	0	0	0	7813	1059	37	5	114	5	IQCK	16	19729740	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	16390211	19729740	70625013	88	16764											
MVP	9961	broad.mit.edu	37	chr16	29855978	29855978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactcagcccgcatcattcGcactgctgtctttggctttg	6	13	9	13	2	3	0	2	0	1	0	4	1	3	0	1	1	3	4	1	1	1	3	rs148167046		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:29855978G>A	ENST00000357402.5	+	11	1937	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	MVP_ENST00000395353.1_Missense_Mutation_p.R600H	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	600					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.R600L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCATTCGCACTGCTGTC	0.617																																						uc002dui.3																			1	Substitution - Missense(1)	p.R600L(2)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1798-1800)cGc>cAc		Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.							108	100	103					16																	29855978		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855978G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1799G>A	16.37:g.29855978G>A	ENSP00000349977:p.Arg600His					BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R600H|MVP_uc010vea.2_Missense_Mutation_p.R194H	p.R600H	NM_005115	NP_059447	Q14764	MVP_HUMAN			10	1951	+			600					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1799G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262940	0.95399	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.54866	0.55;0.55	5.91	5.91	0.95273	Shoulder domain (1);	0.041893	0.85682	D	0.000000	T	0.70544	0.3236	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.70680	-0.4805	10	0.62326	D	0.03	-16.0858	17.7991	0.88581	0.0:0.0:1.0:0.0	.	600	Q14764	MVP_HUMAN	H	600	ENSP00000349977:R600H;ENSP00000378760:R600H	ENSP00000349977:R600H	R	+	2	0	MVP	29763479	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	6.496000	0.73670	2.808000	0.96608	0.655000	0.94253	CGC		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29855978	G	A	29855978	3	1	237	1	0	0	0	0	1	0	0	0	9996	1087	38	1	1837	1	MVP	16	29855978	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	10126238	29855978	60498775	89	16765											
PRSS36	146547	broad.mit.edu	37	chr16	31151818	31151818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaggggtctcacctcggTcctggggttctttccagccc	4	10	11	16	1	2	0	1	0	2	0	6	0	4	0	5	5	1	1	5	5	0	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:31151818T>C	ENST00000268281.4	-	13	2220	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PRSS36_ENST00000569305.1_Missense_Mutation_p.D716G|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	721	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCACCTCGGTCCTGGGGTTC	0.667																																						uc002ebd.3																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(2161-2163)gAc>gGc		Homo sapiens protease, serine, 36 (PRSS36), mRNA.							38	41	40					16																	31151818		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31151818T>C	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2162A>G	16.37:g.31151818T>C	ENSP00000268281:p.Asp721Gly					PRSS36_uc010vff.2_Missense_Mutation_p.D496G|PRSS36_uc010vfg.2_Missense_Mutation_p.D716G|PRSS36_uc010vfh.2_Intron	p.D721G	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			12	2221	-			721			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2162A>G	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089904	0.36855	.	.	ENSG00000178226	ENST00000268281	D	0.88664	-2.41	4.37	4.37	0.52481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.80121	0.4565	N	0.20574	0.59	0.30170	N	0.801373	P;P	0.34462	0.454;0.454	B;B	0.31946	0.138;0.138	T	0.77477	-0.2573	9	0.45353	T	0.12	.	10.1399	0.42730	0.0:0.0:0.0:1.0	.	716;721	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	G	721	ENSP00000268281:D721G	ENSP00000268281:D721G	D	-	2	0	PRSS36	31059319	0.987000	0.35691	1.000000	0.80357	0.905000	0.53344	1.381000	0.34362	1.957000	0.56846	0.454000	0.30748	GAC		0.667	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		C	31151818	T	C	31151818	3	2	237	1	0	0	0	0	1	0	0	0	12625	1667	58	4	417	4	PRSS36	16	31151818	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	1295840	31151818	59202935	90	16766											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686572	53686572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacctcaagggtgatagtaTtcttctgaatatattgcaaa	13	13	9	6	0	3	2	1	2	2	0	3	3	3	3	1	2	1	2	1	2	7	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:53686572T>C	ENST00000379925.3	-	15	2077	c.2027A>G	c.(2026-2028)aAt>aGt	p.N676S	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.N676S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.N676S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.N676S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	676	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGATAGTATTCTTCTGAAT	0.378																																						uc002ehp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(2026-2028)aAt>aGt		Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.							81	83	83					16																	53686572		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53686572T>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2027A>G	16.37:g.53686572T>C	ENSP00000369257:p.Asn676Ser					RPGRIP1L_uc002eho.4_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	p.N676S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			14	2091	-		all_cancers(37;0.0973)	676			C2 1.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.2027A>G	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.240385	0.22711	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.92397	-3.03;-3.03	5.45	4.36	0.52297	C2 calcium-dependent membrane targeting (1);	0.265327	0.41938	N	0.000799	D	0.85305	0.5666	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.25955	0.048;0.048;0.021;0.138	B;B;B;B	0.23150	0.044;0.044;0.044;0.039	T	0.78690	-0.2106	10	0.31617	T	0.26	-11.4053	8.0692	0.30678	0.0:0.1564:0.0:0.8436	.	676;676;676;676	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	676	ENSP00000369257:N676S;ENSP00000262135:N676S	ENSP00000262135:N676S	N	-	2	0	RPGRIP1L	52244073	1.000000	0.71417	0.883000	0.34634	0.983000	0.72400	1.270000	0.33086	0.913000	0.36797	0.460000	0.39030	AAT		0.378	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		C	53686572	T	C	53686572	3	2	237	1	0	0	0	0	1	0	0	0	13550	1493	52	4	1972	4	RPGRIP1L	16	53686572	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	22534754	53686572	36668181	91	16767											
NUDT21	11051	broad.mit.edu	37	chr16	56473612	56473612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccagttaccaatgcaaTcgtcaatgacccagtcttgc	11	10	6	14	1	2	1	1	1	1	0	4	1	3	1	4	0	3	2	4	0	4	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:56473612T>C	ENST00000300291.5	-	4	600	c.428A>G	c.(427-429)gAt>gGt	p.D143G		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	143	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCAATGCAATCGTCAATGAC	0.408																																						uc002eja.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(427-429)gAt>gGt		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.							193	194	193					16																	56473612		2198	4300	6498	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56473612T>C	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"Nudix motif containing"	13870	protein-coding gene	gene with protein product	"cleavage factor Im complex 25 kDa subunit"	604978	"cleavage and polyadenylation specific factor 5, 25 kDa", "cleavage and polyadenylation specific factor 5, 25 kD subunit"	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.428A>G	16.37:g.56473612T>C	ENSP00000300291:p.Asp143Gly						p.D143G	NM_007006	NP_008937	O43809	CPSF5_HUMAN			3	575	-			143			Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.428A>G	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	31	5.089143	0.94100	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.65	5.65	0.86999	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87140	0.2202	9	0.87932	D	0	.	15.8867	0.79255	0.0:0.0:0.0:1.0	.	143	O43809	CPSF5_HUMAN	G	143	.	ENSP00000300291:D143G	D	-	2	0	NUDT21	55031113	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.027000	0.88791	2.151000	0.67156	0.460000	0.39030	GAT		0.408	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		C	56473612	T	C	56473612	3	2	237	1	0	0	0	0	1	0	0	0	10738	1435	50	4	271	4	NUDT21	16	56473612	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	2787040	56473612	33881141	92	16768											
TMEM208	29100	broad.mit.edu	37	chr16	67261781	67261781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggaagaagcagatatttGaagagaacagagagactctg	17	6	14	4	0	1	6	0	1	1	5	1	10	1	7	0	1	2	1	0	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67261781G>C	ENST00000304800.9	+	2	155	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	TMEM208_ENST00000565201.1_Missense_Mutation_p.E17Q|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563953.1_5'UTR|LRRC29_ENST00000462169.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	17					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGATATTTGAAGAGAACAG	0.532																																						uc002esi.2																			0				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(49-51)Gaa>Caa		Homo sapiens transmembrane protein 208 (TMEM208), mRNA.							72	77	75					16																	67261781		1946	4156	6102	SO:0001583	missense	29100					integral to membrane		g.chr16:67261781G>C		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.49G>C	16.37:g.67261781G>C	ENSP00000305892:p.Glu17Gln					LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	p.E17Q	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	155	+		Ovarian(137;0.0563)	17					Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.49G>C	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956862	0.97145	.	.	ENSG00000168701	ENST00000304800	T	0.31247	1.5	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.58302	1.8	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.10753	-1.0616	10	0.23891	T	0.37	.	18.8398	0.92177	0.0:0.0:1.0:0.0	.	17	Q9BTX3	TM208_HUMAN	Q	17	ENSP00000305892:E17Q	ENSP00000305892:E17Q	E	+	1	0	TMEM208	65819282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.838000	0.92115	2.793000	0.96121	0.655000	0.94253	GAA		0.532	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		C	67261781	G	C	67261781	3	2	237	1	0	0	0	0	1	0	0	0	16130	1291	45	5	55	5	TMEM208	16	67261781	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	10788169	67261781	23092972	93	16769											
EDC4	23644	broad.mit.edu	37	chr16	67914753	67914753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctcgggcttgatggAggccctggggatggagatcg	6	7	17	11	2	0	2	0	1	0	1	2	5	0	4	3	6	1	2	3	6	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67914753A>G	ENST00000358933.5	+	18	2630	c.2391A>G	c.(2389-2391)ggA>ggG	p.G797G	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	797					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTTGATGGAGGCCCTGGGG	0.672																																						uc002eur.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2389-2391)ggA>ggG		Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.							46	53	51					16																	67914753		2196	4298	6494	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914753A>G	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2391A>G	16.37:g.67914753A>G						EDC4_uc010cer.3_Silent_p.G416G|EDC4_uc002eus.3_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	p.G797G	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2630	+		Ovarian(137;0.0563)	797					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.2391A>G	CCDS10849.1																																																																																				0.672	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		G	67914753	A	G	67914753	2	3	237	1	0	0	0	0	0	0	0	1	4908	291	11	4		4	EDC4	16	67914753	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	652972	67914753	22440000	94	16770											
PLCG2	5336	broad.mit.edu	37	chr16	81942161	81942161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttcctggttcgggagagCgagaccttccccaatgacta	9	9	10	13	2	0	3	0	1	0	2	3	5	2	3	5	2	1	1	5	2	2	4	rs11548654		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:81942161C>T	ENST00000359376.3	+	17	1912	c.1698C>T	c.(1696-1698)agC>agT	p.S566S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	566	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCGGGAGAGCGAGACCTTCC	0.592																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1696-1698)agC>agT		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.		C		0,4096		0,0,2048	76	82	80		1698	-3.3	1	16	dbSNP_120	80	1,8361		0,1,4180	no	coding-synonymous	PLCG2	NM_002661.3		0,1,6228	TT,TC,CC		0.012,0.0,0.0080		566/1266	81942161	1,12457	2048	4181	6229	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942161C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1698C>T	16.37:g.81942161C>T						PLCG2_uc010chg.1_Silent_p.S566S	p.S566S	NM_002661	NP_002652	P16885	PLCG2_HUMAN			16	1876	+			566			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1698C>T	CCDS42204.1																																																																																				0.592	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			T	81942161	C	T	81942161	2	4	237	1	0	0	0	0	0	0	0	1	12036	767	27	1		1	PLCG2	16	81942161	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	14027408	81942161	8412592	95	16771											
DERL2	51009	broad.mit.edu	37	chr17	5383436	5383436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaaatacatcttccaaGaaaaaatatatgtgtccaac	17	11	6	7	0	1	1	0	0	1	1	3	2	3	2	2	1	2	0	2	1	9	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:5383436G>T	ENST00000158771.4	-	6	607	c.552C>A	c.(550-552)ttC>ttA	p.F184L	DERL2_ENST00000572834.1_Missense_Mutation_p.S63Y|DERL2_ENST00000570848.1_Missense_Mutation_p.S133Y|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	184					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						CATCTTCCAAGAAAAAATATA	0.358																																						uc002gcc.1																			0				large_intestine(3)	3						c.(550-552)ttC>ttA		Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.							91	99	96					17																	5383436		2203	4300	6503	SO:0001583	missense	51009				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	g.chr17:5383436G>T	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"Der1-like domain family, member 2"			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.552C>A	17.37:g.5383436G>T	ENSP00000158771:p.Phe184Leu						p.F184L	NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN			5	565	-			184					Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	37	c.552C>A	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384845	0.82792	.	.	ENSG00000072849	ENST00000158771	T	0.34667	1.35	5.66	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.92649	3.33	0.26074	N	0.981177	D	0.55385	0.971	P	0.56278	0.795	T	0.64824	-0.6316	10	0.66056	D	0.02	6.1613	13.5533	0.61745	0.0743:0.0:0.9257:0.0	.	184	Q9GZP9	DERL2_HUMAN	L	184	ENSP00000158771:F184L	ENSP00000158771:F184L	F	-	3	2	DERL2	5324160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.361000	0.59461	1.389000	0.46526	0.655000	0.94253	TTC		0.358	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		T	5383436	G	T	5383436	3	4	237	1	0	0	0	0	1	0	0	0	4447	933	33	5	175	5	DERL2	17	5383436	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		5383436	75811774	96	16772											
TP53	7157	broad.mit.edu	37	chr17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgggcctccggttcAtgccgcccatgcaggaactg	7	8	14	12	2	1	1	1	1	0	0	2	3	2	3	4	4	3	2	4	4	1	1	rs587780074|rs397516437		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7577544A>C	ENST00000269305.4	-	7	926	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTCCGGTTCATGCCGCCCAT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G245S(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(1)	breast(10)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(6)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|skin(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|lung(1)|autonomic_ganglia(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(736-738)aTg>aGg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							152	113	126					17																	7577544		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577544A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.737T>G	17.37:g.7577544A>C	ENSP00000269305:p.Met246Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.M246R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.737T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177746	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.96;1.0;1.0;0.998	D	0.97237	0.9888	10	0.87932	D	0	-28.5667	12.3101	0.54924	1.0:0.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246R;ENSP00000352610:M246R;ENSP00000269305:M246R;ENSP00000398846:M246R;ENSP00000391127:M246R;ENSP00000391478:M246R;ENSP00000425104:M114R;ENSP00000423862:M153R	ENSP00000269305:M246R	M	-	2	0	TP53	7518269	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577544	A	C	7577544	3	2	237	1	0	0	0	0	1	0	0	0	16378	217	8	5	553	5	TP53	17	7577544	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	2194108	7577544	73617666	97	16773											
DNAH2	146754	broad.mit.edu	37	chr17	7640511	7640511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctgatcagtctcatcCgcatcatctgggtcaactct	9	12	7	13	1	6	1	4	1	3	0	8	1	7	1	1	1	2	2	1	1	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7640511C>T	ENST00000572933.1	+	8	2565	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R369C|DNAH2_ENST00000570791.1_Missense_Mutation_p.R369C|DNAH2_ENST00000082259.3_Missense_Mutation_p.R369C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	369	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGTCTCATCCGCATCATCTG	0.517																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1105-1107)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							120	104	109					17																	7640511		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7640511C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1105C>T	17.37:g.7640511C>T	ENSP00000458355:p.Arg369Cys					DNAH2_uc002git.3_Missense_Mutation_p.R369C|DNAH2_uc010vuk.2_Missense_Mutation_p.R369C	p.R369C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			6	1119	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	369			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1105C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216185	0.79352	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57273	0.41;0.41	5.67	5.67	0.87782	Dynein heavy chain, domain-1 (1);	0.127149	0.53938	D	0.000052	T	0.71195	0.3311	M	0.72894	2.215	0.58432	D	0.999996	P;D	0.71674	0.839;0.998	B;D	0.66196	0.31;0.942	T	0.69993	-0.4994	10	0.44086	T	0.13	.	18.5321	0.90996	0.0:1.0:0.0:0.0	.	369;369	Q9P225;Q9P225-3	DYH2_HUMAN;.	C	369	ENSP00000373825:R369C;ENSP00000082259:R369C	ENSP00000082259:R369C	R	+	1	0	DNAH2	7581236	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.263000	0.51546	2.686000	0.91538	0.561000	0.74099	CGC		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7640511	C	T	7640511	3	4	237	1	0	0	0	0	1	0	0	0	4602	652	23	2	1131	2	DNAH2	17	7640511	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	62967	7640511	73554699	98	16774											
ALOX15B	247	broad.mit.edu	37	chr17	7943287	7943287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaggagcttcaggcccgGcaggagatgtaccagtgagg	10	5	17	9	1	1	2	1	1	0	1	1	5	1	4	2	6	2	3	2	6	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7943287G>A	ENST00000380183.4	+	3	574	c.435G>A	c.(433-435)cgG>cgA	p.R145R	ALOX15B_ENST00000380173.2_Silent_p.R145R|ALOX15B_ENST00000573359.1_Silent_p.R145R|ALOX15B_ENST00000572022.1_Silent_p.R145R	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	145	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCAGGCCCGGCAGGAGATGT	0.607																																						uc002gju.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(433-435)cgG>cgA		Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.							49	46	47					17																	7943287		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7943287G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.435G>A	17.37:g.7943287G>A						ALOX15B_uc002gjv.3_Silent_p.R145R|ALOX15B_uc002gjw.3_Silent_p.R145R|ALOX15B_uc010vun.2_Silent_p.R145R|ALOX15B_uc010cnp.3_5'UTR	p.R145R	NM_001141	NP_001132	O15296	LX15B_HUMAN			2	551	+			145			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.435G>A	CCDS11128.1																																																																																				0.607	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			A	7943287	G	A	7943287	2	1	237	1	0	0	0	0	0	0	0	1	539	1190	42	3		3	ALOX15B	17	7943287	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	302776	7943287	73251923	99	16775											
GLP2R	9340	broad.mit.edu	37	chr17	9737155	9737155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccttgaggaaacgactcGgaagtgggctcagtacaaac	12	7	11	11	2	1	1	1	1	0	0	3	4	2	3	2	3	3	2	2	3	4	2	rs147858947	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:9737155G>A	ENST00000262441.5	+	2	734	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	74					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GAAACGACTCGGAAGTGGGCT	0.483																																						uc002gmd.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(220-222)cGg>cAg		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)	G	GLN/ARG	0,4406		0,0,2203	136	120	125		221	-0.7	1	17	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GLP2R	NM_004246.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	74/554	9737155	3,13003	2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9737155G>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.221G>A	17.37:g.9737155G>A	ENSP00000262441:p.Arg74Gln					GLP2R_uc010cog.1_Non-coding_Transcript	p.R74Q	NM_004246	NP_004237	O95838	GLP2R_HUMAN			1	221	+			74					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.221G>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807412	0.31961	0.0	3.49E-4	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.52057	0.68	5.86	-0.678	0.11353	.	0.674495	0.12326	N	0.478838	T	0.19525	0.0469	N	0.05124	-0.11	0.22896	N	0.998598	B	0.11235	0.004	B	0.06405	0.002	T	0.29458	-1.0011	10	0.02654	T	1	.	8.9522	0.35796	0.5454:0.0:0.4546:0.0	.	74	O95838	GLP2R_HUMAN	Q	74;49;74	ENSP00000262441:R74Q	ENSP00000262441:R74Q	R	+	2	0	GLP2R	9677880	0.831000	0.29352	0.964000	0.40570	0.848000	0.48234	-0.395000	0.07287	0.015000	0.14971	0.650000	0.86243	CGG		0.483	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9737155	G	A	9737155	3	1	237	1	0	0	0	0	1	0	0	0	6453	1116	39	2	227	2	GLP2R	17	9737155	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	1793868	9737155	71458055	100	16776											
MYH13	8735	broad.mit.edu	37	chr17	10243484	10243484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccaggagtcttggtctcaTtgggaatcagacatcgtaca	11	10	10	10	1	3	1	2	0	2	1	5	3	3	3	1	3	1	1	1	3	2	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:10243484T>C	ENST00000418404.3	-	17	2202	c.2039A>G	c.(2038-2040)aAt>aGt	p.N680S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.N680S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	680	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTGGTCTCATTGGGAATCAG	0.423																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2038-2040)aAt>aGt		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							91	91	91					17																	10243484		1919	4151	6070	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10243484T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2039A>G	17.37:g.10243484T>C	ENSP00000404570:p.Asn680Ser						p.N680S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			17	2129	-			680			Actin-binding (By similarity).|Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2039A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148932	0.78001	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.91237	-2.81	4.12	4.12	0.48240	Myosin head, motor domain (2);	.	.	.	.	D	0.97111	0.9056	H	0.98866	4.355	0.45056	D	0.998079	D	0.76494	0.999	D	0.71656	0.974	D	0.98258	1.0497	9	0.87932	D	0	.	13.5882	0.61944	0.0:0.0:0.0:1.0	.	680	Q9UKX3	MYH13_HUMAN	S	680;355	ENSP00000252172:N680S	ENSP00000252172:N680S	N	-	2	0	MYH13	10184209	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.795000	0.85887	1.858000	0.53909	0.459000	0.35465	AAT		0.423	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		C	10243484	T	C	10243484	3	2	237	1	0	0	0	0	1	0	0	0	10032	1493	52	4	3873	4	MYH13	17	10243484	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	506329	10243484	70951726	101	16777											
CETN1	1068	broad.mit.edu	37	chr18	580606	580606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttcgaacccaggaaGgaagagatgaagaaaatgat	16	6	13	6	1	0	4	0	2	0	2	1	8	0	6	1	3	1	1	1	3	6	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:580606G>A	ENST00000327228.3	+	1	240	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	66	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AACCCAGGAAGGAAGAGATGA	0.557																																						uc002kko.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(196-198)aaG>aaA		Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.							76	60	66					18																	580606		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580606G>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.198G>A	18.37:g.580606G>A							p.K66K	NM_004066	NP_004057	Q12798	CETN1_HUMAN			0	238	+			66			EF-hand 2.		B2R536	Silent	SNP	ENST00000327228.3	37	c.198G>A	CCDS11820.1																																																																																				0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		A	580606	G	A	580606	2	1	237	1	0	0	0	0	0	0	0	1	3274	991	35	3		3	CETN1	18	580606	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08		580606	77496642	102	16778											
MYOM1	8736	broad.mit.edu	37	chr18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaagaaccattgagtcacGaaaactttcaagacaggtga	16	8	8	9	1	2	4	2	2	0	2	3	5	3	4	2	1	2	0	2	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:3126851G>A	ENST00000356443.4	-	19	3172	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.R947C|MYOM1_ENST00000261606.7_Missense_Mutation_p.R851C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	947	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R947C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423																																						uc002klp.3																			1	Substitution - Missense(1)	p.R947C(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2839-2841)Cgt>Tgt		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							64	57	59					18																	3126851		1919	4147	6066	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3126851G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2839C>T	18.37:g.3126851G>A	ENSP00000348821:p.Arg947Cys					MYOM1_uc002klq.3_Missense_Mutation_p.R851C	p.R947C	NM_003803	NP_003794	P52179	MYOM1_HUMAN			18	3173	-			947			Fibronectin type-III 4.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2839C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359548	0.82353	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57595	0.39;0.39;0.39	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051201	0.85682	D	0.000000	T	0.71626	0.3362	M	0.61703	1.905	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.946	T	0.73260	-0.4039	10	0.66056	D	0.02	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	851;947	P52179-2;P52179	.;MYOM1_HUMAN	C	947;947;851	ENSP00000348821:R947C;ENSP00000383413:R947C;ENSP00000261606:R851C	ENSP00000261606:R851C	R	-	1	0	MYOM1	3116851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.548000	0.82154	2.559000	0.86315	0.655000	0.94253	CGT		0.423	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3126851	G	A	3126851	3	1	237	1	0	0	0	0	1	0	0	0	10091	1058	37	2	2298	2	MYOM1	18	3126851	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	2546245	3126851	74950397	103	16779											
DSC2	1824	broad.mit.edu	37	chr18	28659892	28659892	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatccaggcttctgaaaacTttgattgatcctgtattttc	9	17	6	9	0	1	3	0	3	1	0	4	3	3	3	2	1	1	2	2	1	4	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:28659892T>A	ENST00000280904.6	-	11	2027	c.1584A>T	c.(1582-1584)aaA>aaT	p.K528N	DSC2_ENST00000251081.6_Missense_Mutation_p.K528N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	528	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTGAAAACTTTGATTGATC	0.343																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1582-1584)aaA>aaT		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							186	186	186					18																	28659892		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28659892T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1584A>T	18.37:g.28659892T>A	ENSP00000280904:p.Lys528Asn					DSC2_uc002kwk.4_Missense_Mutation_p.K528N	p.K528N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		10	2038	-			528			Cadherin 4.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1584A>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.561509	0.27915	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.52983	0.64;0.64	5.68	-1.69	0.08186	Cadherin (4);Cadherin-like (1);	1.997660	0.03141	N	0.166526	T	0.48696	0.1514	M	0.79693	2.465	0.09310	N	1	B;B	0.20550	0.046;0.037	B;B	0.24848	0.056;0.033	T	0.33420	-0.9869	10	0.44086	T	0.13	.	3.4028	0.07330	0.1314:0.08:0.4075:0.3812	.	528;528	Q02487;Q02487-2	DSC2_HUMAN;.	N	528;528;294;541	ENSP00000251081:K528N;ENSP00000280904:K528N	ENSP00000251081:K528N	K	-	3	2	DSC2	26913890	0.000000	0.05858	0.000000	0.03702	0.893000	0.52053	-0.317000	0.08060	-0.164000	0.10927	0.482000	0.46254	AAA		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		A	28659892	T	A	28659892	3	1	237	1	0	0	0	0	1	0	0	0	4766	1606	56	5	1185	5	DSC2	18	28659892	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	25533041	28659892	49417356	104	16780											
TNFSF9	8744	broad.mit.edu	37	chr19	6531065	6531065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggaatacgcctctgaCgcttcactggaccccgaagc	9	8	10	14	3	3	1	2	1	1	0	3	4	3	3	3	2	2	1	3	2	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:6531065C>T	ENST00000245817.3	+	1	56	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	6					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACGCCTCTGACGCTTCACTGG	0.692																																						uc002mfh.2																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(16-18)gaC>gaT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							37	44	42					19																	6531065		1954	3911	5865	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531065C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.18C>T	19.37:g.6531065C>T							p.D6D	NM_003811	NP_003802	P41273	TNFL9_HUMAN			0	56	+			6					Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.18C>T	CCDS12169.1																																																																																				0.692	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		T	6531065	C	T	6531065	2	4	237	1	0	0	0	0	0	0	0	1	16309	535	19	1		1	TNFSF9	19	6531065	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		6531065	52597918	105	16781											
FBN3	84467	broad.mit.edu	37	chr19	8200953	8200953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaaggccaccactgaCaatgcactcgtccacatctg	12	7	8	14	1	1	2	0	2	1	0	3	2	2	2	3	1	1	1	3	1	2	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:8200953C>G	ENST00000600128.1	-	13	1897	c.1483G>C	c.(1483-1485)Gtc>Ctc	p.V495L	FBN3_ENST00000270509.2_Missense_Mutation_p.V495L|FBN3_ENST00000601739.1_Missense_Mutation_p.V495L			Q75N90	FBN3_HUMAN	fibrillin 3	495	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACCACTGACAATGCACTCG	0.612																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1483-1485)Gtc>Ctc		Homo sapiens fibrillin 3 (FBN3), mRNA.							65	51	56					19																	8200953		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8200953C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1483G>C	19.37:g.8200953C>G	ENSP00000470498:p.Val495Leu						p.V495L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			11	1500	-			495			EGF-like 5; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1483G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	1.468	-0.560637	0.03939	.	.	ENSG00000142449	ENST00000270509	D	0.95272	-3.66	4.19	-1.58	0.08479	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.521086	0.18925	U	0.127362	T	0.81678	0.4873	N	0.03881	-0.34	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.72027	-0.4414	10	0.31617	T	0.26	.	5.8998	0.18960	0.0:0.1648:0.3627:0.4725	.	495	Q75N90	FBN3_HUMAN	L	495	ENSP00000270509:V495L	ENSP00000270509:V495L	V	-	1	0	FBN3	8106953	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.116000	0.10724	-0.098000	0.12285	0.655000	0.94253	GTC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		G	8200953	C	G	8200953	3	3	237	1	0	0	0	0	1	0	0	0	5704	478	17	5	7154	5	FBN3	19	8200953	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	1669888	8200953	50928030	106	16782											
MYO9B	4650	broad.mit.edu	37	chr19	17308666	17308666	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccctggccaaggctcAggtaacaacaacacggcaaa	13	4	9	15	2	1	0	1	0	0	0	2	0	2	0	3	4	3	3	3	4	5	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:17308666A>G	ENST00000594824.1	+	23	4259	c.4112A>G	c.(4111-4113)cAg>cGg	p.Q1371R	MYO9B_ENST00000595618.1_Splice_Site_p.Q1371R|MYO9B_ENST00000397274.2_Splice_Site_p.Q1371R			Q13459	MYO9B_HUMAN	myosin IXB	1371	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAAGGCTCAGGTAACAAca	0.557																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e23+1		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							69	72	71					19																	17308666		1997	4152	6149	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17308666A>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4113+1A>G	19.37:g.17308666A>G						MYO9B_uc002nfi.3_Splice_Site_p.Q1371_splice|MYO9B_uc002nfj.1_Splice_Site_p.Q1371_splice|MYO9B_uc002nfl.1_5'Flank	p.Q1371_splice	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			23	4265	+			1371			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4113_splice		.	.	.	.	.	.	.	.	.	.	A	16.04	3.010211	0.54361	.	.	ENSG00000099331	ENST00000397274	D	0.84442	-1.85	4.71	4.71	0.59529	.	0.139990	0.32548	N	0.005946	D	0.87684	0.6239	L	0.50333	1.59	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	D	0.84295	0.0502	10	0.17832	T	0.49	.	10.5568	0.45123	1.0:0.0:0.0:0.0	.	1371;1371;1377	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	R	1371	ENSP00000380444:Q1371R	ENSP00000380444:Q1371R	Q	+	2	0	MYO9B	17169666	1.000000	0.71417	0.987000	0.45799	0.573000	0.36030	4.757000	0.62213	1.775000	0.52247	0.402000	0.26972	CAG		0.557	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Missense_Mutation	G	17308666	A	G	17308666	5	3	237	1	0	0	0	0	0	0	1	0	10085	202	7	4	4198	4	MYO9B	19	17308666	Splice_Site	SNP	A	TCGA-32-4210-01A-01D-1353-08	9107713	17308666	41820317	107	16783											
ZFP30	22835	broad.mit.edu	37	chr19	38127033	38127033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgagttttctgtaagtagGcattttttcagaggtggttt	7	19	12	3	0	2	2	1	1	1	1	2	2	2	2	0	3	0	5	0	3	2	8			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:38127033G>A	ENST00000351218.2	-	6	966	c.409C>T	c.(409-411)Cct>Tct	p.P137S	ZFP30_ENST00000514101.2_Missense_Mutation_p.P137S|ZFP30_ENST00000392144.1_Missense_Mutation_p.P137S|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTAAGTAGGCATTTTTTCA	0.408																																						uc002ogv.1																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(409-411)Cct>Tct		Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.							95	100	98					19																	38127033		2202	4300	6502	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127033G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.409C>T	19.37:g.38127033G>A	ENSP00000343581:p.Pro137Ser					ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	p.P137S	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	925	-			137					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.409C>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995541	0.00435	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05025	3.51;3.51;3.51	3.39	1.06	0.20224	.	0.234861	0.22123	N	0.064317	T	0.04815	0.0130	N	0.21194	0.64	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35748	-0.9776	10	0.54805	T	0.06	.	10.7392	0.46143	0.0:0.3602:0.6398:0.0	.	137;137	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	S	137;137;137;136	ENSP00000343581:P137S;ENSP00000422930:P137S;ENSP00000375988:P137S	ENSP00000343581:P137S	P	-	1	0	ZFP30	42818873	0.000000	0.05858	0.045000	0.18777	0.031000	0.12232	0.089000	0.15002	0.375000	0.24679	0.655000	0.94253	CCT		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		A	38127033	G	A	38127033	3	1	237	1	0	0	0	0	1	0	0	0	17641	1203	42	3	1154	3	ZFP30	19	38127033	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	20818367	38127033	21001950	108	16784											
CEACAM4	1089	broad.mit.edu	37	chr19	42133314	42133314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccctccacggggagcGgctgagggggggcccatggt	4	6	19	12	2	0	1	0	1	0	0	1	2	1	2	3	7	2	1	3	7	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:42133314G>A	ENST00000221954.2	-	1	128	c.18C>T	c.(16-18)gcC>gcT	p.A6A	CEACAM4_ENST00000600925.1_Silent_p.A6A	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	6						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CACGGGGAGCGGCTGAGGGGG	0.652																																						uc010xwd.1																			0		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(16-18)gcC>gcT		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.							26	28	27					19																	42133314		2203	4300	6503	SO:0001819	synonymous_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42133314G>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.18C>T	19.37:g.42133314G>A						CEACAM4_uc002orh.1_Silent_p.A6A	p.A6A	NM_001817	NP_001808	O75871	CEAM4_HUMAN			0	129	-			6					Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	c.18C>T	CCDS33033.1																																																																																				0.652	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		A	42133314	G	A	42133314	2	1	237	1	0	0	0	0	0	0	0	1	3194	1103	39	2		2	CEACAM4	19	42133314	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	4006281	42133314	16995669	109	16785											
CLPTM1	1209	broad.mit.edu	37	chr19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccggaggagctccaCgcgtcgccagccgcaacctg	6	3	14	18	6	0	0	0	0	0	0	2	2	1	2	6	3	3	2	6	3	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:45476426C>T	ENST00000337392.5	+	3	418	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R76C|CLPTM1_ENST00000546079.1_5'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	90					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R90C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627																																						uc002pai.3																			2	Substitution - Missense(2)	p.R90C(3)	prostate(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(268-270)Cgc>Tgc		Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.							33	38	36					19																	45476426		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45476426C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.268C>T	19.37:g.45476426C>T	ENSP00000336994:p.Arg90Cys					CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.R76C	p.R90C	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	2	322	+		all_neural(266;0.224)|Ovarian(192;0.231)	90					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.268C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851095	0.71719	.	.	ENSG00000104853	ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67725	0.922;0.953	T	0.78455	-0.2197	9	0.54805	T	0.06	-24.8352	17.0775	0.86590	0.0:1.0:0.0:0.0	.	76;90	F5H8J3;O96005	.;CLPT1_HUMAN	C	76;90;90	.	ENSP00000336994:R90C	R	+	1	0	CLPTM1	50168266	0.989000	0.36119	1.000000	0.80357	0.612000	0.37316	2.923000	0.48868	2.633000	0.89246	0.555000	0.69702	CGC		0.627	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		T	45476426	C	T	45476426	3	4	237	1	0	0	0	0	1	0	0	0	3554	536	19	1	278	1	CLPTM1	19	45476426	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	3343112	45476426	13652557	110	16786											
LILRA5	353514	broad.mit.edu	37	chr19	54823150	54823150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtcaccaccagctcCagggggtcgctgggctctga	6	8	12	15	1	3	1	2	1	1	0	5	1	4	1	4	3	1	3	4	3	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:54823150C>T	ENST00000301219.3	-	4	512	c.393G>A	c.(391-393)ctG>ctA	p.L131L	LILRA5_ENST00000446712.3_Silent_p.L119L|LILRA5_ENST00000432233.3_Silent_p.L131L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Silent_p.L119L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	131	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACCAGCTCCAGGGGGTCGC	0.622																																						uc002qfe.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(391-393)ctG>ctA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.							111	107	108					19																	54823150		2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823150C>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.393G>A	19.37:g.54823150C>T						LILRA5_uc002qff.3_Silent_p.L119L|LILRA5_uc010yev.2_Silent_p.L131L|LILRA5_uc010yew.2_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L|LILRA5_uc002qfh.1_Silent_p.L119L	p.L131L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	513	-	Ovarian(34;0.19)		131			Ig-like C2-type 1.		A6NHI3	Silent	SNP	ENST00000301219.3	37	c.393G>A	CCDS12888.1																																																																																				0.622	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		T	54823150	C	T	54823150	2	4	237	1	0	0	0	0	0	0	0	1	8788	581	21	3		3	LILRA5	19	54823150	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	9346724	54823150	4305833	111	16787											
NLRP13	126204	broad.mit.edu	37	chr19	56422072	56422072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatgctgttccatgcGtgcatcctggaatcaaactt	11	11	9	10	1	1	0	1	0	0	0	3	2	3	1	2	1	5	4	2	1	3	2	rs185367421		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:56422072G>A	ENST00000342929.3	-	6	2138	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000588751.1_Silent_p.H713H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463																																						uc010ygg.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2137-2139)caC>caT		Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.							170	148	155					19																	56422072		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56422072G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2139C>T	19.37:g.56422072G>A							p.H713H	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2164	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	713					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2139C>T	CCDS33119.1																																																																																				0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56422072	G	A	56422072	2	1	237	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56422072	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	1598922	56422072	2706911	112	16788											
CPXM1	56265	broad.mit.edu	37	chr20	2776322	2776322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgtggcagggtcggCggctggtgtcctgcatggcc	2	9	18	12	2	0	0	0	0	0	0	2	0	1	0	3	7	1	4	3	7	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:2776322C>T	ENST00000380605.2	-	11	1707	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	548					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCAGGGTCGGCGGCTGGTGTC	0.622																																						uc002wgu.3																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1642-1644)cGc>cAc		Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.							53	46	48					20																	2776322		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776322C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1643G>A	20.37:g.2776322C>T	ENSP00000369979:p.Arg548His					CPXM1_uc010gas.3_Intron	p.R548H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			10	1717	-			548					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1643G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629673	0.67015	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03330	3.97	5.15	4.21	0.49690	Peptidase M14, carboxypeptidase A (2);	0.097230	0.64402	D	0.000001	T	0.06005	0.0156	L	0.42008	1.315	0.50313	D	0.999869	D	0.56968	0.978	P	0.47251	0.542	T	0.35226	-0.9797	10	0.54805	T	0.06	-17.8386	11.4444	0.50114	0.0:0.9128:0.0:0.0872	.	548	Q96SM3	CPXM1_HUMAN	H	548;244	ENSP00000369979:R548H	ENSP00000369979:R548H	R	-	2	0	CPXM1	2724322	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	4.754000	0.62191	1.413000	0.46997	0.563000	0.77884	CGC		0.622	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2776322	C	T	2776322	3	4	237	1	0	0	0	0	1	0	0	0	3837	768	27	1	577	1	CPXM1	20	2776322	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		2776322	60249198	113	16789											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146165	3146165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttagtttcctctatcCggggcaggaagtcggcctgc	6	10	11	14	2	1	0	0	0	1	0	4	1	3	1	4	4	1	2	4	4	3	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:3146165C>T	ENST00000329152.3	-	2	2698	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.R388Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.R388Q			O60299	LZTS3_HUMAN		434						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TTCCTCTATCCGGGGCAGGAA	0.662																																						uc002wia.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1300-1302)cGg>cAg		Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.							24	27	26					20																	3146165		2195	4294	6489	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146165C>T																												ENST00000329152.3:c.1301G>A	20.37:g.3146165C>T	ENSP00000332123:p.Arg434Gln					ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	p.R434Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	2699	-			434					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1301G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244381	0.79912	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.36340	1.26;1.29;1.29	4.73	3.78	0.43462	.	0.157950	0.48286	D	0.000199	T	0.38134	0.1029	L	0.46157	1.445	0.39475	D	0.967785	D;D	0.67145	0.996;0.992	P;P	0.57204	0.815;0.558	T	0.24368	-1.0162	10	0.25106	T	0.35	-26.9098	4.4603	0.11663	0.0:0.6669:0.0:0.3331	.	388;434	O60299-2;O60299	.;PRIP1_HUMAN	Q	434;388;388	ENSP00000332123:R434Q;ENSP00000353496:R388Q;ENSP00000338166:R388Q	ENSP00000332123:R434Q	R	-	2	0	RP5-1187M17.10	3094165	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.901000	0.48695	2.180000	0.69256	0.561000	0.74099	CGG		0.662	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			T	3146165	C	T	3146165	3	4	237	1	0	0	0	0	1	0	0	0	12870	652	23	2	728	2	ProSAPiP1	20	3146165	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	369843	3146165	59879355	114	16790											
CRLS1	54675	broad.mit.edu	37	chr20	5996124	5996124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttagcttgacctatgcaGatcttattccaggtaagaac	12	13	8	8	0	1	3	0	1	1	2	2	3	2	3	2	1	3	4	2	1	5	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:5996124G>T	ENST00000378863.4	+	3	719	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	CRLS1_ENST00000378868.4_Missense_Mutation_p.D89Y|CRLS1_ENST00000452938.1_Missense_Mutation_p.D188Y	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	188					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						GACCTATGCAGATCTTATTCC	0.383																																						uc002wmn.4																			0				lung(3)|ovary(1)	4						c.(562-564)Gat>Tat		Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA.							117	103	108					20																	5996124		2203	4300	6503	SO:0001583	missense	54675				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr20:5996124G>T	AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"GCD10 homolog (S. cerevisiae)"	608188	"chromosome 20 open reading frame 155"	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.562G>T	20.37:g.5996124G>T	ENSP00000368140:p.Asp188Tyr					CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	p.D188Y	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN			2	716	+			188					D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	ENST00000378863.4	37	c.562G>T	CCDS13096.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768176	0.49680	.	.	ENSG00000088766	ENST00000378863;ENST00000452938;ENST00000378868	T	0.40225	1.04	6.03	5.08	0.68730	.	0.288717	0.43579	D	0.000557	T	0.44307	0.1287	N	0.21583	0.68	0.35890	D	0.82957	D;B;P	0.58970	0.984;0.318;0.619	P;B;P	0.61874	0.895;0.298;0.51	T	0.53279	-0.8461	10	0.72032	D	0.01	-19.4811	8.9702	0.35901	0.2043:0.0:0.7957:0.0	.	188;89;188	Q6NTG3;Q9UJA2-2;Q9UJA2	.;.;CRLS1_HUMAN	Y	188;188;89	ENSP00000416770:D188Y	ENSP00000368140:D188Y	D	+	1	0	CRLS1	5944124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.836000	0.55813	2.880000	0.98712	0.650000	0.86243	GAT		0.383	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095		T	5996124	G	T	5996124	3	4	237	1	0	0	0	0	1	0	0	0	3889	942	33	5	585	5	CRLS1	20	5996124	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	2849959	5996124	57029396	115	16791											
SALL4	57167	broad.mit.edu	37	chr20	50401201	50401201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctgagttattgttcGccccgtgtgtcatgtagtga	5	13	15	8	3	1	2	1	2	0	0	2	2	1	2	2	2	0	4	2	2	2	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:50401201G>A	ENST00000217086.4	-	4	2876	c.2765C>T	c.(2764-2766)gCg>gTg	p.A922V	SALL4_ENST00000371539.3_Missense_Mutation_p.A145V|SALL4_ENST00000395997.3_Missense_Mutation_p.A485V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	922					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A922V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATTGTTCGCCCCGTGTGT	0.468																																						uc002xwh.4																			1	Substitution - Missense(1)	p.A922V(2)|p.G921W(1)	large_intestine(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2764-2766)gCg>gTg		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							81	72	75					20																	50401201		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401201G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2765C>T	20.37:g.50401201G>A	ENSP00000217086:p.Ala922Val					SALL4_uc010gii.3_Missense_Mutation_p.A485V|SALL4_uc002xwi.4_Missense_Mutation_p.A145V	p.A922V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			3	2866	-			922					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2765C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901649	0.33535	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.35048	3.0;3.0;1.33	3.56	3.56	0.40772	Zinc finger, C2H2 (1);	0.000000	0.42821	D	0.000641	T	0.42359	0.1199	L	0.36672	1.1	0.30361	N	0.783777	D;P;P	0.76494	0.999;0.783;0.527	D;B;B	0.70716	0.97;0.058;0.054	T	0.18116	-1.0347	10	0.13108	T	0.6	-22.8172	10.9269	0.47195	0.0:0.0:1.0:0.0	.	485;145;922	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	V	922;485;145	ENSP00000217086:A922V;ENSP00000379319:A485V;ENSP00000360594:A145V	ENSP00000217086:A922V	A	-	2	0	SALL4	49834608	1.000000	0.71417	0.873000	0.34254	0.681000	0.39784	2.406000	0.44557	2.303000	0.77524	0.561000	0.74099	GCG		0.468	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50401201	G	A	50401201	3	1	237	1	0	0	0	0	1	0	0	0	13813	1087	38	1	400	1	SALL4	20	50401201	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	44405077	50401201	12624319	116	16792											
LZTR1	8216	broad.mit.edu	37	chr22	21345975	21345975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccacccccgcagcggCgctacgggcataccatggtg	7	4	11	19	4	0	0	0	0	0	0	0	0	0	0	6	3	3	3	6	3	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr22:21345975C>A	ENST00000215739.8	+	9	1209	c.850C>A	c.(850-852)Cgc>Agc	p.R284S	LZTR1_ENST00000389355.3_Missense_Mutation_p.R265S|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	284					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCAGCGGCGCTACGGGCA	0.632																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(850-852)Cgc>Agc		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							33	31	32					22																	21345975		2200	4295	6495	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21345975C>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.850C>A	22.37:g.21345975C>A	ENSP00000215739:p.Arg284Ser					LZTR1_uc002ztn.3_Missense_Mutation_p.R243S|LZTR1_uc011ahy.2_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	p.R284S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	953	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	284					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.850C>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671032	0.88348	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	D;D	0.85629	-2.01;-2.01	5.24	4.14	0.48551	Kelch-type beta propeller (1);	0.052090	0.85682	D	0.000000	D	0.94450	0.8214	H	0.95850	3.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.99	D;D;D;P	0.83275	0.966;0.996;0.966;0.869	D	0.95647	0.8703	10	0.72032	D	0.01	-34.3649	14.1064	0.65093	0.1609:0.8391:0.0:0.0	.	265;243;284;243	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	S	243;284;265	ENSP00000215739:R284S;ENSP00000374006:R265S	ENSP00000215739:R284S	R	+	1	0	LZTR1	19675975	0.991000	0.36638	1.000000	0.80357	0.978000	0.69477	2.945000	0.49043	2.444000	0.82710	0.462000	0.41574	CGC		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		A	21345975	C	A	21345975	3	1	237	1	0	0	0	0	1	0	0	0	9137	768	27	5	884	5	LZTR1	22	21345975	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		21345975	29958591	117	16793											
ESX1	80712	broad.mit.edu	37	chrX	103495282	103495282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccgggtggcacaggcGccatgcgtgagccgggtggc	4	5	20	12	4	0	1	0	1	0	0	0	1	0	1	3	6	2	1	3	6	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:103495282G>A	ENST00000372588.4	-	4	931	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	283	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGCACAGGCGCCATGCGTGA	0.726																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.3																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(847-849)gCg>gTg		Homo sapiens ESX homeobox 1 (ESX1), mRNA.							33	35	34					X																	103495282		2202	4298	6500	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495282G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.848C>T	X.37:g.103495282G>A	ENSP00000361669:p.Ala283Val						p.A283V	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			3	917	-			283			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.848C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355408	0.11239	.	.	ENSG00000123576	ENST00000372588	T	0.75154	-0.91	2.0	-4.01	0.04045	.	.	.	.	.	T	0.56217	0.1970	L	0.42686	1.345	0.09310	N	1	B	0.24533	0.105	B	0.08055	0.003	T	0.33954	-0.9848	9	0.30078	T	0.28	.	2.7386	0.05247	0.4618:0.0:0.284:0.2542	.	283	Q8N693	ESX1_HUMAN	V	283	ENSP00000361669:A283V	ENSP00000361669:A283V	A	-	2	0	ESX1	103381938	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	1.102000	0.31050	-1.114000	0.02977	0.372000	0.22366	GCG		0.726	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		A	103495282	G	A	103495282	3	1	237	1	0	0	0	0	1	0	0	0	5263	1087	38	1	376	1	ESX1	23	103495282	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		103495282	51775278	118	16794											
GPC3	2719	broad.mit.edu	37	chrX	133087081	133087081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatccccagaactcaccttgGaaaaccgcagcattctgaat	14	8	6	13	1	2	2	1	1	1	1	3	3	3	3	4	1	3	2	4	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:133087081G>C	ENST00000370818.3	-	2	778	c.333C>G	c.(331-333)ttC>ttG	p.F111L	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.F111L	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	111					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTCACCTTGGAAAACCGCAG	0.373			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc010nrn.2			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(331-333)ttC>ttG		Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.							166	154	158					X																	133087081		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087081G>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.333C>G	X.37:g.133087081G>C	ENSP00000359854:p.Phe111Leu					GPC3_uc004exe.2_Missense_Mutation_p.F111L|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	p.F111L	NM_001164617	NP_001158089	P51654	GPC3_HUMAN			1	530	-	Acute lymphoblastic leukemia(192;0.000127)		111					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.333C>G	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680333	0.47886	.	.	ENSG00000147257	ENST00000370818;ENST00000394299	T;T	0.62788	0.0;0.0	5.5	2.72	0.32119	.	0.268842	0.39544	N	0.001334	T	0.61974	0.2390	M	0.67397	2.05	0.80722	D	1	B;P	0.44946	0.184;0.846	B;P	0.47786	0.17;0.557	T	0.60885	-0.7174	10	0.72032	D	0.01	.	5.3383	0.15969	0.2317:0.0:0.6277:0.1406	.	111;111	C9JLE3;P51654	.;GPC3_HUMAN	L	111	ENSP00000359854:F111L;ENSP00000377836:F111L	ENSP00000359854:F111L	F	-	3	2	GPC3	132914747	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.293000	0.51779	0.492000	0.27815	0.506000	0.49869	TTC		0.373	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		C	133087081	G	C	133087081	3	2	237	1	0	0	0	0	1	0	0	0	6599	1165	41	5	1510	5	GPC3	23	133087081	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	29591799	133087081	22183479	119	16795											
NLGN4Y	22829	broad.mit.edu	37	chrY	16952864	16952864	+	3'UTR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgatatcactcacatcCagaacgaagagatcatgtct	16	9	6	10	1	4	3	3	1	1	2	5	5	5	3	1	0	1	0	1	0	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrY:16952864C>G	ENST00000476359.1	+	0	2718							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CACTCACATCCAGAACGAAGA	0.547																																						uc011nas.1																			0				large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						c.(2233-2235)Cag>Gag		Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.																																				SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16952864C>G		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2715C>G	Y.37:g.16952864C>G						NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc004ftg.2_Missense_Mutation_p.Q725E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	p.Q745E	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN			6	2412	+			725					F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.2233C>G																																																																																					0.547	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		G	16952864	C	G	16952864	1	3	237	0	1	0	0	0	0	0	0	0	10465	595	21	5		5	NLGN4Y	24	16952864	3'UTR	SNP	C	TCGA-32-4210-01A-01D-1353-08		16952864	42420702	120	16796											
AADACL4	343066	broad.mit.edu	37	chr1	12726355	12726355	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtacccccagacgtctGgaggaagtacgagaagtggc	10	8	14	9	2	1	2	0	0	1	2	1	5	1	4	2	3	2	2	2	3	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:12726355G>A	ENST00000376221.1	+	4	833	c.833G>A	c.(832-834)tGg>tAg	p.W278*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	278						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCAGACGTCTGGAGGAAGTAC	0.532																																						uc001auf.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(832-834)tGg>tAg		Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.							108	110	109					1																	12726355		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12726355G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.833G>A	1.37:g.12726355G>A	ENSP00000365395:p.Trp278*						p.W278*	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	833	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	278						Nonsense_Mutation	SNP	ENST00000376221.1	37	c.833G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021257	0.54576	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.38	4.38	0.52667	.	0.126603	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.5772	6.0026	0.19529	0.2111:0.0:0.7889:0.0	.	.	.	.	X	278	.	ENSP00000365395:W278X	W	+	2	0	AADACL4	12648942	0.000000	0.05858	0.672000	0.29872	0.010000	0.07245	0.104000	0.15313	2.238000	0.73509	0.655000	0.94253	TGG		0.532	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		A	12726355	G	A	12726355	4	1	238	1	0	0	0	0	0	1	0	0	13	1357	47	3	847	3	AADACL4	1	12726355	Nonsense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		12726355	236524266	1	16797											
LAPTM5	7805	broad.mit.edu	37	chr1	31210478	31210478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaggacagtgatgaaggcGatggaaaagatgatcatcat	17	8	12	4	1	2	4	2	3	0	1	2	7	2	6	0	3	0	0	0	3	4	1	rs144620246	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:31210478G>A	ENST00000294507.3	-	6	653	c.579C>T	c.(577-579)atC>atT	p.I193I	MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	193					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGGCGATGGAAAAGA	0.542																																						uc001bsc.2																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(577-579)atC>atT		Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	225	194	204		579	-9.7	0	1	dbSNP_134	204	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAPTM5	NM_006762.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		193/263	31210478	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31210478G>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.579C>T	1.37:g.31210478G>A							p.I193I	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	5	670	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	193					Q13240|Q14698|Q3KP54	Silent	SNP	ENST00000294507.3	37	c.579C>T	CCDS337.1																																																																																				0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		A	31210478	G	A	31210478	2	1	238	1	0	0	0	0	0	0	0	1	8626	1048	37	2		2	LAPTM5	1	31210478	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	18484123	31210478	218040143	2	16798											
GJA9	81025	broad.mit.edu	37	chr1	39340374	39340374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcagtgtttggaatgTcaagtgattgagaatctcct	12	13	10	6	0	3	2	2	2	1	1	4	4	3	3	1	1	1	2	1	1	4	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:39340374T>C	ENST00000360786.3	-	1	1649	c.1397A>G	c.(1396-1398)gAc>gGc	p.D466G	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.D466G|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	466					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTTGGAATGTCAAGTGATTG	0.493																																						uc021olr.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1396-1398)gAc>gGc		Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.							119	115	116					1																	39340374		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340374T>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1397A>G	1.37:g.39340374T>C	ENSP00000354020:p.Asp466Gly					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	p.D466G	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		0	1397	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	466					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.1397A>G	CCDS432.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186016	0.38609	.	.	ENSG00000131233	ENST00000357771;ENST00000360786	D;D	0.97575	-4.44;-4.44	4.14	1.79	0.24919	.	32.883800	0.00166	N	0.000001	D	0.92593	0.7647	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	D	0.84410	0.0565	10	0.37606	T	0.19	.	2.9892	0.05978	0.0:0.2038:0.2319:0.5642	.	466	P57773	CXA9_HUMAN	G	466	ENSP00000350415:D466G;ENSP00000354020:D466G	ENSP00000350415:D466G	D	-	2	0	GJA9	39112961	0.030000	0.19436	0.004000	0.12327	0.381000	0.30169	2.475000	0.45162	0.683000	0.31428	0.533000	0.62120	GAC		0.493	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		C	39340374	T	C	39340374	3	2	238	1	0	0	0	0	1	0	0	0	6406	1667	58	4	154	4	GJA9	1	39340374	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	8129896	39340374	209910247	3	16799											
DMBX1	127343	broad.mit.edu	37	chr1	46976216	46976216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagccgcacagcgttcacgGctcagcagctcgaggccctg	7	5	13	16	4	2	0	2	0	0	0	3	1	2	0	2	2	4	6	2	2	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:46976216G>A	ENST00000360032.3	+	2	237	c.223G>A	c.(223-225)Gct>Act	p.A75T	DMBX1_ENST00000371956.4_Missense_Mutation_p.A80T	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCGTTCACGGCTCAGCAGCT	0.582																																						uc001cpx.3																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(238-240)Gct>Act		Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.							75	66	69					1																	46976216		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976216G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.223G>A	1.37:g.46976216G>A	ENSP00000353132:p.Ala75Thr					DMBX1_uc001cpw.3_Missense_Mutation_p.A75T	p.A80T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			1	253	+	Acute lymphoblastic leukemia(166;0.155)		80			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.238G>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824330	0.90955	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.96104	-3.91;-3.91	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.101317	0.64402	D	0.000002	D	0.93019	0.7778	N	0.12471	0.22	0.80722	D	1	P;P	0.42296	0.775;0.734	P;P	0.51297	0.665;0.535	D	0.92353	0.5891	10	0.28530	T	0.3	.	17.2476	0.87032	0.0:0.0:1.0:0.0	.	80;75	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	T	80;75	ENSP00000361024:A80T;ENSP00000353132:A75T	ENSP00000353132:A75T	A	+	1	0	DMBX1	46748803	1.000000	0.71417	0.903000	0.35520	0.774000	0.43823	8.011000	0.88624	2.403000	0.81681	0.491000	0.48974	GCT		0.582	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			A	46976216	G	A	46976216	3	1	238	1	0	0	0	0	1	0	0	0	4578	1203	42	3	244	3	DMBX1	1	46976216	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	7635842	46976216	202274405	4	16800											
SPTA1	6708	broad.mit.edu	37	chr1	158647548	158647548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtccttcagaggcaaCaaggtctttgccatagtcct	12	10	8	11	0	2	1	1	0	1	1	4	1	4	1	3	2	3	1	3	2	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:158647548C>G	ENST00000368147.4	-	7	1069	c.889G>C	c.(889-891)Gtt>Ctt	p.V297L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	297					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGAGGCAACAAGGTCTTTG	0.478																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(889-891)Gtt>Ctt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							111	106	107					1																	158647548		1967	4161	6128	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158647548C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.889G>C	1.37:g.158647548C>G	ENSP00000357129:p.Val297Leu						p.V297L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			6	1088	-	all_hematologic(112;0.0378)		297					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.889G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563335	0.45694	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	4.58	1.45	0.22620	.	0.629622	0.12064	N	0.502903	T	0.18467	0.0443	L	0.46157	1.445	0.29443	N	0.858997	B	0.15473	0.013	B	0.25759	0.063	T	0.21008	-1.0258	10	0.34782	T	0.22	.	5.341	0.15984	0.1595:0.6513:0.0:0.1892	.	297	P02549	SPTA1_HUMAN	L	297	ENSP00000357130:V297L;ENSP00000357129:V297L	ENSP00000357129:V297L	V	-	1	0	SPTA1	156914172	0.689000	0.27690	0.016000	0.15963	0.708000	0.40852	1.336000	0.33850	0.186000	0.20125	0.655000	0.94253	GTT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158647548	C	G	158647548	3	3	238	1	0	0	0	0	1	0	0	0	15115	478	17	5	6554	5	SPTA1	1	158647548	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	111671332	158647548	90603073	5	16801											
USH2A	7399	broad.mit.edu	37	chr1	215848824	215848824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacagaggctgaggcgcCgagtgtgcacaacctgctct	8	7	13	13	2	1	2	0	1	1	1	2	3	2	2	3	2	3	3	3	2	1	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:215848824C>T	ENST00000307340.3	-	63	12815	c.12429G>A	c.(12427-12429)tcG>tcA	p.S4143S	USH2A_ENST00000366943.2_Silent_p.S4143S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4143	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S4143S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGAGGCGCCGAGTGTGCAC	0.572										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)	p.S4143S(2)	large_intestine(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12427-12429)tcG>tcA		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							45	46	46					1																	215848824		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848824C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12429G>A	1.37:g.215848824C>T		HNSCC(13;0.011)					p.S4143S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	12816	-			4143			Fibronectin type-III 26.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12429G>A	CCDS31025.1																																																																																				0.572	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215848824	C	T	215848824	2	4	238	1	0	0	0	0	0	0	0	1	17033	639	23	2		2	USH2A	1	215848824	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	57201276	215848824	33401797	6	16802											
WDR26	80232	broad.mit.edu	37	chr1	224586247	224586247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatttaacaaagctaatcgGccattttttgaaatagtaaa	17	13	5	6	1	0	1	0	1	0	0	1	1	0	1	1	1	2	2	1	1	7	8			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:224586247G>A	ENST00000414423.2	-	11	1807	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Silent_p.G391G|MIR4742_ENST00000581069.1_RNA	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	538						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		AAGCTAATCGGCCATTTTTTG	0.274																																						uc001hop.4																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(1612-1614)ggC>ggT		Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.							53	57	56					1																	224586247		2201	4285	6486	SO:0001819	synonymous_variant	80232					cytoplasm|nucleus		g.chr1:224586247G>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1614C>T	1.37:g.224586247G>A						WDR26_uc001hoq.4_Silent_p.G522G|WDR26_uc021pjp.1_Non-coding_Transcript|MIR4742_uc021pjq.1_5'Flank	p.G538G	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	10	1808	-			538					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	ENST00000414423.2	37	c.1614C>T	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104381	0.20632	.	.	ENSG00000162923	ENST00000480676	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.69387	0.3105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67593	-0.5631	4	.	.	.	.	13.9434	0.64069	0.0:0.0:0.8481:0.1519	.	.	.	.	S	172	.	.	P	-	1	0	WDR26	222652870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.297000	0.33400	2.581000	0.87130	0.655000	0.94253	CCG		0.274	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		A	224586247	G	A	224586247	2	1	238	1	0	0	0	0	0	0	0	1	17280	1190	42	3		3	WDR26	1	224586247	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	8737423	224586247	24664374	7	16803											
RYR2	6262	broad.mit.edu	37	chr1	237777926	237777926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctgctgatcatgggcaTctttcacaacgaggacttga	10	11	9	11	1	3	2	2	2	1	0	3	4	3	3	1	2	3	2	1	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:237777926T>C	ENST00000366574.2	+	37	5815	c.5498T>C	c.(5497-5499)aTc>aCc	p.I1833T	RYR2_ENST00000542537.1_Missense_Mutation_p.I1817T|RYR2_ENST00000360064.6_Missense_Mutation_p.I1831T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1833	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCATGGGCATCTTTCACAAC	0.498																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5497-5499)aTc>aCc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							135	128	131					1																	237777926		1957	4171	6128	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777926T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5498T>C	1.37:g.237777926T>C	ENSP00000355533:p.Ile1833Thr						p.I1833T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5618	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1833			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5498T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046353	0.55110	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72282	-0.64;-0.64;-0.64	5.62	5.62	0.85841	.	0.573654	0.15698	N	0.249078	T	0.63885	0.2549	L	0.36672	1.1	0.80722	D	1	B	0.25351	0.124	B	0.17979	0.02	T	0.62186	-0.6907	10	0.72032	D	0.01	.	15.8259	0.78706	0.0:0.0:0.0:1.0	.	1833	Q92736	RYR2_HUMAN	T	1833;1831;1817	ENSP00000355533:I1833T;ENSP00000353174:I1831T;ENSP00000443798:I1817T	ENSP00000353174:I1831T	I	+	2	0	RYR2	235844549	1.000000	0.71417	0.920000	0.36463	0.962000	0.63368	6.202000	0.72131	2.153000	0.67306	0.528000	0.53228	ATC		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237777926	T	C	237777926	3	2	238	1	0	0	0	0	1	0	0	0	13769	1435	50	4	5644	4	RYR2	1	237777926	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13191679	237777926	11472695	8	16804											
TPO	7173	broad.mit.edu	37	chr2	1459947	1459947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcatggggacaatacatcGaccacgacatcgcgttcaca	12	7	10	12	4	1	0	1	0	0	0	3	3	1	1	1	3	1	2	1	3	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:1459947G>A	ENST00000345913.4	+	7	803	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TPO_ENST00000349624.3_Missense_Mutation_p.D238N|TPO_ENST00000329066.4_Missense_Mutation_p.D238N|TPO_ENST00000382201.3_Missense_Mutation_p.D238N|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.D238N|TPO_ENST00000346956.3_Missense_Mutation_p.D238N|TPO_ENST00000382198.1_Missense_Mutation_p.D238N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	238					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAATACATCGACCACGACAT	0.522																																						uc002qwr.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(712-714)Gac>Aac		Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						123	91	102					2																	1459947		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459947G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.712G>A	2.37:g.1459947G>A	ENSP00000318820:p.Asp238Asn					TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D238N|TPO_uc002qwx.3_Missense_Mutation_p.D238N|TPO_uc002qwu.3_Missense_Mutation_p.D238N|TPO_uc010yio.2_Missense_Mutation_p.D238N|TPO_uc010yip.2_Missense_Mutation_p.D238N	p.D238N	NM_001206744	NP_001193673	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	798	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	238					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.712G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700584	0.48307	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.04	3.16	0.36331	.	0.240626	0.47455	D	0.000239	D	0.82342	0.5016	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.999	P;P;P;D	0.64321	0.876;0.891;0.814;0.924	T	0.83072	-0.0142	10	0.87932	D	0	-13.6158	10.382	0.44117	0.1678:0.0:0.8322:0.0	.	238;238;238;238	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	N	238;238;238;238;238;238;238;167	ENSP00000337263:D238N;ENSP00000318820:D238N;ENSP00000263886:D238N;ENSP00000332044:D238N;ENSP00000329869:D238N;ENSP00000371636:D238N;ENSP00000371633:D238N;ENSP00000405788:D167N	ENSP00000329869:D238N	D	+	1	0	TPO	1438954	0.864000	0.29904	0.014000	0.15608	0.010000	0.07245	4.013000	0.57138	0.568000	0.29311	-0.253000	0.11424	GAC		0.522	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1459947	G	A	1459947	3	1	238	1	0	0	0	0	1	0	0	0	16407	1058	37	2	734	2	TPO	2	1459947	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		1459947	241739426	9	16805											
NT5C1B	93034	broad.mit.edu	37	chr2	18765887	18765887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctgctgctgctgctgctCggacagagagttgcggtcca	5	9	14	13	3	0	1	0	0	0	1	2	3	1	2	2	2	6	7	2	2	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:18765887C>T	ENST00000359846.2	-	5	873	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NT5C1B_ENST00000304081.4_Missense_Mutation_p.E206K|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E266K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E266K	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	266					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTGCTGCTCGGACAGAGAG	0.652																																						uc010exr.3																			0											c.(622-624)Gag>Aag		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							18	20	19					2																	18765887		2202	4296	6498	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18765887C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.796G>A	2.37:g.18765887C>T	ENSP00000352904:p.Glu266Lys					NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E266K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E206K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E266K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E249K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E283K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E268K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E206K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E58K	p.E208K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			3	734	-			266					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.622G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760603	0.49468	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89552	-2.53	4.34	3.44	0.39384	.	1.923890	0.02542	N	0.094695	D	0.84875	0.5569	N	0.24115	0.695	0.09310	N	0.999998	D;D;D;D;P;P;D;D;D	0.58970	0.984;0.984;0.966;0.984;0.814;0.837;0.98;0.966;0.98	B;B;B;B;B;B;B;B;B	0.42692	0.306;0.306;0.222;0.306;0.057;0.121;0.395;0.222;0.395	T	0.75156	-0.3417	10	0.35671	T	0.21	-17.1853	12.8755	0.57988	0.0:0.8353:0.1647:0.0	.	249;283;206;249;208;58;206;266;266	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	K	266;208;206;266	ENSP00000412639:E208K	ENSP00000305979:E206K	E	-	1	0	NT5C1B-RDH14;NT5C1B	18629368	0.000000	0.05858	0.157000	0.22605	0.007000	0.05969	0.315000	0.19451	1.121000	0.41925	-0.537000	0.04273	GAG		0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			T	18765887	C	T	18765887	3	4	238	1	0	0	0	0	1	0	0	0	10686	893	31	2	1060	2	NT5C1B	2	18765887	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	17305940	18765887	224433486	10	16806											
APOB	338	broad.mit.edu	37	chr2	21231021	21231021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcttgatctcgttgcGcaggtcagcctgactagaga	8	11	12	10	2	3	3	1	2	2	1	4	4	3	3	1	1	2	2	1	1	1	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:21231021G>A	ENST00000233242.1	-	26	8846	c.8719C>T	c.(8719-8721)Cgc>Tgc	p.R2907C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2907					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCGTTGCGCAGGTCAGCC	0.468																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8719-8721)Cgc>Tgc		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						175	169	171					2																	21231021		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231021G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8719C>T	2.37:g.21231021G>A	ENSP00000233242:p.Arg2907Cys						p.R2907C	NM_000384	NP_000375	P04114	APOB_HUMAN			25	8847	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2907					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8719C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503445	0.26949	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00760	5.73	5.73	3.72	0.42706	.	1.019710	0.07833	N	0.961610	T	0.01558	0.0050	L	0.51422	1.61	0.20196	N	0.999927	D	0.69078	0.997	B	0.43575	0.424	T	0.58521	-0.7622	10	0.54805	T	0.06	.	14.9049	0.70711	0.0:0.0:0.6157:0.3843	.	2907	P04114	APOB_HUMAN	C	2907	ENSP00000233242:R2907C	ENSP00000233242:R2907C	R	-	1	0	APOB	21084526	0.003000	0.15002	0.012000	0.15200	0.471000	0.32888	0.929000	0.28844	0.563000	0.29222	0.555000	0.69702	CGC		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21231021	G	A	21231021	3	1	238	1	0	0	0	0	1	0	0	0	785	1087	38	1	4988	1	APOB	2	21231021	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2465134	21231021	221968352	11	16807											
ALK	238	broad.mit.edu	37	chr2	29443572	29443572	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactggttctcactcacCgggcgagggcgggtctctcg	7	8	14	12	4	3	1	2	0	2	1	6	2	3	1	1	4	0	1	1	4	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:29443572C>T	ENST00000389048.3	-	23	4551	c.3645G>A	c.(3643-3645)ccG>ccA	p.P1215P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TCTCACTCACCGGGCGAGGGC	0.612			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.e23+1		Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	Adenosine triphosphate(DB00171)						43	42	42					2																	29443572		2203	4300	6503	SO:0001630	splice_region_variant	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443572C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3645+1G>A	2.37:g.29443572C>T						ALK_uc010ymo.2_Splice_Site_p.P147_splice	p.P1215_splice	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			23	4597	-	Acute lymphoblastic leukemia(172;0.155)		1215			Protein kinase.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.3645_splice	CCDS33172.1																																																																																				0.612	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Silent	T	29443572	C	T	29443572	5	4	238	1	0	0	0	0	0	0	1	0	525	666	23	2	1245	2	ALK	2	29443572	Splice_Site	SNP	C	TCGA-32-4211-01A-01D-1353-08	8212551	29443572	213755801	12	16808											
POTEF	728378	broad.mit.edu	37	chr2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttcatagcagagtcgtCgtggtctccagaagcgccca	8	10	11	12	3	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:130877830C>T	ENST00000409914.2	-	3	658	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEF_ENST00000357462.5_Missense_Mutation_p.D87N|POTEF_ENST00000361163.4_Missense_Mutation_p.D87N|POTEF_ENST00000360967.5_Missense_Mutation_p.D87N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(259-261)Gac>Aac		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							91	119	109					2																	130877830		2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877830C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.259G>A	2.37:g.130877830C>T	ENSP00000386786:p.Asp87Asn						p.D87N	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	659	-			87					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.259G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.850	0.526176	0.13066	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78246	-1.16;-1.16;1.66;1.63	0.62	-0.532	0.11890	.	.	.	.	.	T	0.64148	0.2572	L	0.61218	1.895	0.09310	N	1	D	0.57571	0.98	B	0.32149	0.141	T	0.58255	-0.7668	8	0.87932	D	0	.	.	.	.	.	87	A5A3E0	POTEF_HUMAN	N	87	ENSP00000350052:D87N;ENSP00000386786:D87N;ENSP00000354232:D87N;ENSP00000355012:D87N	ENSP00000350052:D87N	D	-	1	0	POTEF	130594300	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.245000	0.08890	-0.259000	0.09432	0.164000	0.16699	GAC		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130877830	C	T	130877830	3	4	238	1	0	0	0	0	1	0	0	0	12265	884	31	2	3028	2	POTEF	2	130877830	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	101434258	130877830	112321543	13	16809											
POTEE	445582	broad.mit.edu	37	chr2	131976234	131976234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcgcttctggagaccacGacgactctgctatgaagaca	10	8	12	11	3	2	3	0	1	2	2	2	6	2	3	1	2	1	2	1	2	2	2	rs552165126		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:131976234G>A	ENST00000356920.5	+	1	353	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.D87N|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	87					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGGAGACCACGACGACTCTGC	0.602													g|||	1	0.000199681	0	0	5008	,	,		13857	0.001		0	False		,,,				2504	0					uc002tsn.2																			0											c.(259-261)Gac>Aac		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							62	63	63					2																	131976234		2200	4280	6480	SO:0001583	missense	445582						ATP binding	g.chr2:131976234G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.259G>A	2.37:g.131976234G>A	ENSP00000439189:p.Asp87Asn					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.D87N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	311	+			87					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.259G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.677565	0.29783	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.78246	-1.16;1.51	0.619	-0.535	0.11879	.	.	.	.	.	T	0.55289	0.1911	L	0.29908	0.895	0.09310	N	1	D	0.57571	0.98	B	0.32149	0.141	T	0.52305	-0.8593	8	0.87932	D	0	.	.	.	.	.	87	Q6S8J3	POTEE_HUMAN	N	87	ENSP00000439189:D87N;ENSP00000443049:D87N	ENSP00000439189:D87N	D	+	1	0	AC131180.1	131692704	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.651000	0.05372	-0.261000	0.09405	0.162000	0.16502	GAC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	131976234	G	A	131976234	3	1	238	1	0	0	0	0	1	0	0	0	12264	1058	37	2	261	2	POTEE	2	131976234	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1098404	131976234	111223139	14	16810											
SCN1A	6323	broad.mit.edu	37	chr2	166850722	166850722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtaaaataataatggcGtagagagatgagtttcagta	17	11	11	2	1	1	3	1	1	0	2	1	4	1	3	0	2	0	4	0	2	7	6	rs121917993		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:166850722G>A	ENST00000303395.4	-	25	4785	c.4786C>T	c.(4786-4788)Cgc>Tgc	p.R1596C	SCN1A_ENST00000409050.1_Missense_Mutation_p.R1568C|SCN1A_ENST00000423058.2_Missense_Mutation_p.R1596C|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1585C|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1596			R -> C (probable disease-associated mutation found in a patient with cryptogenic focal epilepsy; dbSNP:rs121917993). {ECO:0000269|PubMed:17347258}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1585C(1)|p.R1596C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATAATGGCGTAGAGAGATG	0.338																																						uc002udo.4																			2	Substitution - Missense(2)	p.R1585C(1)|p.R1596C(1)	endometrium(2)	NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM071991	SCN1A	M	rs121917993	c.(4786-4788)Cgc>Tgc		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	100	81	87	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4786,4702,4786,4753	5.9	1	2	dbSNP_133	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1596/2010,1568/1982,1596/2010,1585/1999	166850722	1,13005	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850722G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4786C>T	2.37:g.166850722G>A	ENSP00000303540:p.Arg1596Cys					SCN1A_uc010fpk.3_Missense_Mutation_p.R1568C|SCN1A_uc021vsb.1_Missense_Mutation_p.R1585C	p.R1596C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN			26	5013	-			1596		R -> C (in a patient with cryptogenic focal epilepsy; dbSNP:rs121917993).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4786C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014277	0.93404	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98525	1.0625	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1585	P35498-2	.	C	1596;1596;1585;1568	ENSP00000407030:R1596C;ENSP00000303540:R1596C;ENSP00000364554:R1585C;ENSP00000386312:R1568C	ENSP00000303540:R1596C	R	-	1	0	SCN1A	166558968	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.699000	0.84547	2.788000	0.95919	0.650000	0.86243	CGC		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166850722	G	A	166850722	3	1	238	1	0	0	0	0	1	0	0	0	13914	1145	40	1	1251	1	SCN1A	2	166850722	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	34874488	166850722	76348651	15	16811											
TTN	7273	broad.mit.edu	37	chr2	179587016	179587016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtctagcactagaagatgCtgttccaagtgggttggaag	11	10	14	6	0	1	2	0	0	1	2	2	4	2	3	1	2	2	4	1	2	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:179587016C>T	ENST00000591111.1	-	75	21771	c.21547G>A	c.(21547-21549)Gca>Aca	p.A7183T	TTN_ENST00000342992.6_Missense_Mutation_p.A6256T|TTN_ENST00000589042.1_Missense_Mutation_p.A7500T|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12754	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGAAGATGCTGTTCCAAGT	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18766-18768)Gca>Aca		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							54	53	54					2																	179587016		1897	4118	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587016C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21547G>A	2.37:g.179587016C>T	ENSP00000465570:p.Ala7183Thr					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2917T	p.A6256T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	18991	-			7183					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18766G>A		.	.	.	.	.	.	.	.	.	.	C	11.71	1.719529	0.30503	.	.	ENSG00000155657	ENST00000342992	T	0.68903	-0.36	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63343	0.2503	L	0.51914	1.62	0.80722	D	1	P	0.43542	0.81	B	0.35413	0.202	T	0.68318	-0.5440	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7183	Q8WZ42	TITIN_HUMAN	T	6256	ENSP00000343764:A6256T	ENSP00000343764:A6256T	A	-	1	0	TTN	179295261	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.980000	0.56895	2.937000	0.99478	0.650000	0.86243	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179587016	C	T	179587016	3	4	238	1	0	0	0	0	1	0	0	0	16732	797	28	3	82175	3	TTN	2	179587016	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	12736294	179587016	63612357	16	16812											
UBE2E3	10477	broad.mit.edu	37	chr2	181846854	181846854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaccagcgagacccagccGctccagagcctgaagaacaa	13	2	11	15	3	0	4	0	1	0	3	1	6	1	5	5	1	4	1	5	1	3	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:181846854G>A	ENST00000410062.4	+	2	478	c.85G>A	c.(85-87)Gct>Act	p.A29T	AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000392415.2_Missense_Mutation_p.A29T|UBE2E3_ENST00000602710.1_Missense_Mutation_p.A29T|UBE2E3_ENST00000602475.1_Missense_Mutation_p.A29T|UBE2E3_ENST00000602959.1_Missense_Mutation_p.A29T|UBE2E3_ENST00000602632.1_Missense_Mutation_p.A29T	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	29					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						AGACCCAGCCGCTCCAGAGCC	0.507																																						uc002unq.1																			0				breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						c.(85-87)Gct>Act		Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.							43	52	49					2																	181846854		2202	4281	6483	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181846854G>A	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"Ubiquitin-conjugating enzymes E2"	12479	protein-coding gene	gene with protein product		604151	"ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.85G>A	2.37:g.181846854G>A	ENSP00000386788:p.Ala29Thr					UBE2E3_uc002unr.1_Missense_Mutation_p.A29T|UBE2E3_uc010fri.1_Missense_Mutation_p.A29T	p.A29T	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN			2	304	+			29					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.85G>A	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583886	0.28268	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.49432	0.78;0.78	5.15	4.27	0.50696	.	0.084010	0.49916	D	0.000136	T	0.24160	0.0585	N	0.08118	0	0.43164	D	0.994956	B	0.18610	0.029	B	0.12837	0.008	T	0.14172	-1.0482	10	0.02654	T	1	.	13.7959	0.63171	0.0743:0.0:0.9257:0.0	.	29	Q969T4	UB2E3_HUMAN	T	29	ENSP00000376215:A29T;ENSP00000386788:A29T	ENSP00000376215:A29T	A	+	1	0	UBE2E3	181555099	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.531000	0.60602	1.309000	0.44985	0.655000	0.94253	GCT		0.507	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		A	181846854	G	A	181846854	3	1	238	1	0	0	0	0	1	0	0	0	16851	1087	38	1	87	1	UBE2E3	2	181846854	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2259838	181846854	61352519	17	16813											
HIBCH	26275	broad.mit.edu	37	chr2	191110923	191110923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagtataaaagacttgtCtcgatcaatcttagactgtt	13	14	6	8	1	4	2	2	0	2	2	5	3	4	2	0	0	0	2	0	0	6	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:191110923C>T	ENST00000359678.5	-	10	1060	c.766G>A	c.(766-768)Gac>Aac	p.D256N	HIBCH_ENST00000410045.1_Missense_Mutation_p.D33N|HIBCH_ENST00000392332.3_Missense_Mutation_p.D256N	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	256					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAAGACTTGTCTCGATCAATC	0.254																																						uc002uru.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(766-768)Gac>Aac		Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							78	76	77					2																	191110923		2199	4294	6493	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191110923C>T	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.766G>A	2.37:g.191110923C>T	ENSP00000352706:p.Asp256Asn					HIBCH_uc002urv.3_Missense_Mutation_p.D256N	p.D256N	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		9	1061	-			256					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.766G>A	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731929	0.30684	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000416732;ENST00000409820	T;T	0.66460	-0.21;0.34	4.73	4.73	0.59995	.	0.619925	0.18678	N	0.134241	T	0.54127	0.1839	L	0.29908	0.895	0.44780	D	0.997781	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46952	-0.9154	10	0.19590	T	0.45	-0.3797	15.3438	0.74317	0.0:1.0:0.0:0.0	.	256;256	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	N	256;256;33;7;36	ENSP00000376144:D256N;ENSP00000352706:D256N	ENSP00000352706:D256N	D	-	1	0	HIBCH	190819168	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.283000	0.65621	2.610000	0.88304	0.655000	0.94253	GAC		0.254	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			T	191110923	C	T	191110923	3	4	238	1	0	0	0	0	1	0	0	0	7100	913	32	3	414	3	HIBCH	2	191110923	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	9264069	191110923	52088450	18	16814											
NBEAL2	23218	broad.mit.edu	37	chr3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaagatgtgctgaccCggctatatgtcctggaggct	7	10	14	10	1	0	2	0	1	0	1	1	3	1	3	2	4	1	5	2	4	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:47041457C>T	ENST00000450053.3	+	27	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1290					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637																																						uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3868-3870)Cgg>Tgg		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							26	31	30					3																	47041457		2182	4282	6464	SO:0001583	missense	23218						binding	g.chr3:47041457C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3868C>T	3.37:g.47041457C>T	ENSP00000415034:p.Arg1290Trp					NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	p.R1290W	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	26	4047	+		Acute lymphoblastic leukemia(5;0.0534)	1290					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.3868C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946905	0.73672	.	.	ENSG00000160796	ENST00000450053	T	0.63913	-0.07	5.5	5.5	0.81552	.	.	.	.	.	T	0.73133	0.3548	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.75368	-0.3342	9	0.87932	D	0	.	11.9139	0.52755	0.174:0.826:0.0:0.0	.	1290	Q6ZNJ1	NBEL2_HUMAN	W	1290	ENSP00000415034:R1290W	ENSP00000415034:R1290W	R	+	1	2	NBEAL2	47016461	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.309000	0.59135	2.580000	0.87095	0.561000	0.74099	CGG		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47041457	C	T	47041457	3	4	238	1	0	0	0	0	1	0	0	0	10189	643	23	2	3974	2	NBEAL2	3	47041457	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		47041457	150980973	19	16815											
AMT	275	broad.mit.edu	37	chr3	49459869	49459870	+	Frame_Shift_Ins	INS	-	-	A																															ccagacgggccaccacacttINSacagccctctgcatcgtcgc																										TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:49459869_49459870insA	ENST00000273588.3	-	1	316_317	c.14_15insT	c.(13-15)gtafs	p.V5fs	AMT_ENST00000546031.1_5'UTR|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Frame_Shift_Ins_p.V5fs|AMT_ENST00000395338.2_Frame_Shift_Ins_p.V5fs|AMT_ENST00000458307.2_Frame_Shift_Ins_p.V5fs|NICN1_ENST00000422593.1_5'Flank|NICN1-AS1_ENST00000424915.1_RNA	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	5					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CCACCACACTTACAGCCCTCTG	0.639																																						uc003cww.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(13-15)gtafs		Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)		,,,,	1,4265		0,1,2132					,,,,	1.9	0			45	0,8254		0,0,4127	no	utr-3,frameshift,frameshift,frameshift,frameshift	AMT,NICN1	NM_032316.3,NM_001164712.1,NM_001164711.1,NM_001164710.1,NM_000481.3	,,,,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,,,,	,,,,		1,12519				SO:0001589	frameshift_variant	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49459869_49459870insA	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.15dupT	3.37:g.49459870_49459870dupA	ENSP00000273588:p.Val5fs					AMT_uc011bcn.2_5'UTR|AMT_uc003cwx.3_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.2_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.3_5'UTR|AMT_uc011bcq.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bcp.2_5'UTR|NICN1_uc003cwz.1_3'UTR	p.V5fs	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	242_243	-			5					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Frame_Shift_Ins	INS	ENST00000273588.3	37	c.14_15insT	CCDS2797.1																																																																																				0.639	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		A	49459870	-	A	49459869	7	5	238	1	0	1	1	0	0	0	0	0	589	1741	61	0	1260	0	AMT	3	49459869	Frame_Shift_Ins	INS	-	TCGA-32-4211-01A-01D-1353-08	2418412	49459869	148562561	20	16816											
CACNA2D2	9254	broad.mit.edu	37	chr3	50414925	50414925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtcagcctcttgatGtcattcagagccacgtcaat	8	12	11	10	1	5	2	4	1	1	1	5	2	5	2	2	2	2	0	2	2	1	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:50414925G>T	ENST00000479441.1	-	17	1598	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D533E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D533E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D533E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.D533E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D533E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D464E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D533E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	533	Cache.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCCTCTTGATGTCATTCAGAG	0.597																																						uc003daq.3																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(1597-1599)gaC>gaA		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	Gabapentin(DB00996)						97	66	77					3																	50414925		2203	4299	6502	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50414925G>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1599C>A	3.37:g.50414925G>T	ENSP00000418081:p.Asp533Glu					CACNA2D2_uc003dap.3_Missense_Mutation_p.D533E	p.D533E	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	16	1637	-			533			Cache.		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.1599C>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	8.884	0.952370	0.18431	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.04706	3.57;3.57;3.58;3.57;3.57;3.58;3.58;3.57	5.35	4.27	0.50696	Cache (1);	0.057376	0.64402	D	0.000002	T	0.02929	0.0087	N	0.10809	0.05	0.39769	D	0.972134	B;B	0.23128	0.08;0.058	B;B	0.29267	0.1;0.06	T	0.29761	-1.0001	10	0.02654	T	1	-31.9314	13.6633	0.62380	0.0907:0.0:0.9093:0.0	.	533;533	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	533;533;533;464;533;533;533;533	ENSP00000407393:D533E;ENSP00000404631:D533E;ENSP00000266039:D533E;ENSP00000354228:D464E;ENSP00000390526:D533E;ENSP00000378519:D533E;ENSP00000390329:D533E;ENSP00000418081:D533E	ENSP00000266039:D533E	D	-	3	2	CACNA2D2	50389929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.100000	0.31025	2.489000	0.83994	0.585000	0.79938	GAC		0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50414925	G	T	50414925	3	4	238	1	0	0	0	0	1	0	0	0	2549	1368	48	5	1951	5	CACNA2D2	3	50414925	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	955056	50414925	147607505	21	16817											
NR1I2	8856	broad.mit.edu	37	chr3	119536025	119536025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccctttgctacgccccTcatgcaggagttgttcggca	7	10	9	15	2	1	0	1	0	0	0	2	1	1	1	4	2	3	5	4	2	1	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:119536025T>C	ENST00000337940.4	+	9	1436	c.1388T>C	c.(1387-1389)cTc>cCc	p.L463P	NR1I2_ENST00000393716.2_Missense_Mutation_p.L424P|NR1I2_ENST00000466380.1_Missense_Mutation_p.L387P	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	424					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCTACGCCCCTCATGCAGGAG	0.622																																						uc003edj.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(1270-1272)cTc>cCc		Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						95	92	93					3																	119536025		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119536025T>C	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1388T>C	3.37:g.119536025T>C	ENSP00000336528:p.Leu463Pro					NR1I2_uc003edi.3_Missense_Mutation_p.L387P|NR1I2_uc003edk.3_Missense_Mutation_p.L463P|NR1I2_uc003edl.3_Missense_Mutation_p.L312P	p.L424P	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	8	3110	+			424			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.1271T>C	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196962	0.79015	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.98717	-5.09;-5.09;-5.09	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.64402	D	0.000001	D	0.99080	0.9684	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99537	1.0962	10	0.87932	D	0	.	12.1147	0.53858	0.0:0.0:0.0:1.0	.	424;463;410	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	P	424;387;463	ENSP00000377319:L424P;ENSP00000420297:L387P;ENSP00000336528:L463P	ENSP00000336528:L463P	L	+	2	0	NR1I2	121018715	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	6.032000	0.70918	1.952000	0.56665	0.482000	0.46254	CTC		0.622	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			C	119536025	T	C	119536025	3	2	238	1	0	0	0	0	1	0	0	0	10620	1551	54	4	1422	4	NR1I2	3	119536025	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	69121100	119536025	78486405	22	16818											
CSTA	1475	broad.mit.edu	37	chr3	122060340	122060340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtattcaaaagtcttcccGgacaaaatgaggacttggta	15	10	9	7	1	2	1	1	1	1	0	3	3	3	3	1	3	0	2	1	3	7	5	rs201579531		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:122060340G>A	ENST00000264474.3	+	3	272	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	75					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAGTCTTCCCGGACAAAATGA	0.378													G|||	1	0.000199681	8e-04	0	5008	,	,		18003	0		0	False		,,,				2504	0				Pancreas(26;157 1503 12440)	uc003eex.3																			0		p.P74P(1)		large_intestine(2)|lung(2)	4						c.(223-225)Gga>Aga		Homo sapiens cystatin A (stefin A) (CSTA), mRNA.		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	109	110	110		223	-1.5	0	3		110	0,8600		0,0,4300	yes	missense	CSTA	NM_005213.3	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	75/99	122060340	1,13005	2203	4300	6503	SO:0001583	missense	1475				keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	g.chr3:122060340G>A		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.223G>A	3.37:g.122060340G>A	ENSP00000264474:p.Gly75Arg						p.G75R	NM_005213	NP_005204	P01040	CYTA_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	352	+			75					Q6IB90	Missense_Mutation	SNP	ENST00000264474.3	37	c.223G>A	CCDS3011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.19	1.282756	0.23392	2.27E-4	0.0	ENSG00000121552	ENST00000264474	T	0.26810	1.71	5.21	-1.48	0.08745	Proteinase inhibitor I25, cystatin (2);	0.682204	0.15443	N	0.262115	T	0.12817	0.0311	.	.	.	0.26762	N	0.969982	B	0.21753	0.06	B	0.17722	0.019	T	0.21965	-1.0230	9	0.27082	T	0.32	-0.7666	5.9819	0.19411	0.0895:0.4556:0.353:0.1018	.	75	P01040	CYTA_HUMAN	R	75	ENSP00000264474:G75R	ENSP00000264474:G75R	G	+	1	0	CSTA	123543030	0.046000	0.20272	0.029000	0.17559	0.001000	0.01503	0.091000	0.15046	-0.146000	0.11274	-0.913000	0.02753	GGA		0.378	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213		A	122060340	G	A	122060340	3	1	238	1	0	0	0	0	1	0	0	0	3981	1117	39	2	233	2	CSTA	3	122060340	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2524315	122060340	75962090	23	16819											
CLSTN2	64084	broad.mit.edu	37	chr3	140178466	140178466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgatcttcaagtttgaCggcaggcagggtgccaaagt	11	9	14	7	1	2	3	1	2	1	1	2	4	2	3	1	3	1	3	1	3	2	2	rs369133728		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1075-1077)gaC>gaT		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.		C		0,4406		0,0,2203	80	69	73		1077	-10.8	0.1	3		73	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLSTN2	NM_022131.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		359/956	140178466	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178466C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1077C>T	3.37:g.140178466C>T		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.D359D	p.D359D	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			6	1267	+			359					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1077C>T	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		T	140178466	C	T	140178466	2	4	238	1	0	0	0	0	0	0	0	1	3562	535	19	1		1	CLSTN2	3	140178466	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	18118126	140178466	57843964	24	16820											
ETV5	2119	broad.mit.edu	37	chr3	185766628	185766628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtcacagacaaatttgtAgacgtatcgctctccagcca	11	10	9	11	2	2	2	1	0	1	2	4	2	2	2	2	1	1	3	2	1	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:185766628A>G	ENST00000306376.5	-	13	1579	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	ETV5_ENST00000537818.1_Missense_Mutation_p.Y487H|ETV5_ENST00000434744.1_Missense_Mutation_p.Y445H|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	445					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACAAATTTGTAGACGTATCGC	0.562			T	"TMPRSS2, SCL45A3"	Prostate																																	uc003fpy.3				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1459-1461)Tac>Cac		Homo sapiens ets variant 5 (ETV5), mRNA.							59	51	54					3																	185766628		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766628A>G	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1333T>C	3.37:g.185766628A>G	ENSP00000306894:p.Tyr445His					ETV5_uc003fpz.3_Missense_Mutation_p.Y445H	p.Y487H	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		12	1524	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		445					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1459T>C	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163137	0.78226	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.75050	-0.9;-0.9;-0.9	5.85	5.85	0.93711	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	H	0.95079	3.62	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92946	0.6376	10	0.87932	D	0	.	15.2181	0.73285	1.0:0.0:0.0:0.0	.	445;487	P41161;B7Z7D7	ETV5_HUMAN;.	H	445;445;487	ENSP00000306894:Y445H;ENSP00000413755:Y445H;ENSP00000441737:Y487H	ENSP00000306894:Y445H	Y	-	1	0	ETV5	187249322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.238000	0.73509	0.533000	0.62120	TAC		0.562	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		G	185766628	A	G	185766628	3	3	238	1	0	0	0	0	1	0	0	0	5282	420	15	4	203	4	ETV5	3	185766628	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	45588162	185766628	12255802	25	16821											
SST	6750	broad.mit.edu	37	chr3	187387016	187387016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagggcatcattctccGtctggttgggttcagacagc	6	12	12	11	1	4	1	2	0	2	1	6	1	5	1	2	3	1	4	2	3	0	4	rs149673471	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:187387016G>A	ENST00000287641.3	-	2	295	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	63					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	ATCATTCTCCGTCTGGTTGGG	0.517													G|||	3	0.000599042	0.0023	0	5008	,	,		15728	0		0	False		,,,				2504	0					uc003frn.3																			0		p.T63T(2)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(187-189)aCg>aTg		Homo sapiens somatostatin (SST), mRNA.	Bromocriptine(DB01200)|Cysteamine(DB00847)	G	MET/THR	7,4399	12.9+/-30.5	0,7,2196	238	219	225		188	5.5	1	3	dbSNP_134	225	0,8600		0,0,4300	yes	missense	SST	NM_001048.3	81	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging	63/117	187387016	7,12999	2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387016G>A		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.188C>T	3.37:g.187387016G>A	ENSP00000287641:p.Thr63Met						p.T63M	NM_001048	NP_001039	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	1	310	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		63					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.188C>T	CCDS3288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.53	2.860530	0.51482	0.001589	0.0	ENSG00000157005	ENST00000287641	T	0.32988	1.43	5.51	5.51	0.81932	.	0.150676	0.64402	D	0.000011	T	0.31734	0.0806	L	0.60455	1.87	0.47009	D	0.999287	P	0.46220	0.874	B	0.35971	0.215	T	0.26950	-1.0088	10	0.62326	D	0.03	-18.0111	18.402	0.90519	0.0:0.0:1.0:0.0	.	63	P61278	SMS_HUMAN	M	63	ENSP00000287641:T63M	ENSP00000287641:T63M	T	-	2	0	SST	188869710	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	6.177000	0.71961	2.587000	0.87381	0.305000	0.20034	ACG		0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		A	187387016	G	A	187387016	3	1	238	1	0	0	0	0	1	0	0	0	15195	1145	40	1	166	1	SST	3	187387016	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1620388	187387016	10635414	26	16822											
FGFRL1	53834	broad.mit.edu	37	chr4	1018886	1018886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgcccgccggggacGgcccgcgaccgcagcggaga	6	0	18	17	8	0	1	0	0	0	1	0	4	0	2	5	5	1	2	5	5	0	0	rs375150331		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:1018886G>A	ENST00000398484.2	+	8	1846	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	FGFRL1_ENST00000504138.1_Silent_p.T422T|FGFRL1_ENST00000264748.6_Silent_p.T422T|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Silent_p.T422T			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	422					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCGGGGACGGCCCGCGACC	0.731																																						uc003gce.3																			0		p.G421E(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1264-1266)acG>acA		Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.		G	,,	0,4354		0,0,2177	11	13	12		1266,1266,1266	-7.7	0	4		12	1,8473		0,1,4236	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	,,	0,1,6413	AA,AG,GG		0.0118,0.0,0.0078	,,	422/505,422/505,422/505	1018886	1,12827	2177	4237	6414	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018886G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1266G>A	4.37:g.1018886G>A						FGFRL1_uc003gcf.3_Silent_p.T422T|FGFRL1_uc003gcg.3_Silent_p.T422T|FGFRL1_uc010ibo.3_Silent_p.T422T	p.T422T	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1427	+			422					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.1266G>A	CCDS3344.1																																																																																				0.731	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		A	1018886	G	A	1018886	2	1	238	1	0	0	0	0	0	0	0	1	5869	1103	39	2		2	FGFRL1	4	1018886	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08		1018886	190135390	27	16823											
TLR6	10333	broad.mit.edu	37	chr4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtatgttcctggccctgCgccgagtctgggtccactgg	4	10	15	12	2	1	0	0	0	1	0	3	1	3	0	4	4	1	2	4	4	1	2	rs556706627		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:38829218C>T	ENST00000381950.1	-	1	1942	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000436693.2_Missense_Mutation_p.R626H			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													C|||	1	0.000199681	0	0	5008	,	,		20313	0		0.001	False		,,,				2504	0					uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1876-1878)cGc>cAc		Homo sapiens toll-like receptor 6 (TLR6), mRNA.							98	96	97					4																	38829218		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829218C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1877G>A	4.37:g.38829218C>T	ENSP00000371376:p.Arg626His					TLR6_uc003gtm.3_Missense_Mutation_p.R626H	p.R626H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1998	-			626					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1877G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807402	0.00606	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.09723	2.95;2.95	4.29	-8.58	0.00897	.	0.861964	0.10184	N	0.705435	T	0.05640	0.0148	N	0.16903	0.455	0.09310	N	0.999998	B	0.12013	0.005	B	0.10450	0.005	T	0.35748	-0.9776	10	0.23302	T	0.38	.	13.5409	0.61672	0.0869:0.1805:0.0:0.7327	.	626	Q9Y2C9	TLR6_HUMAN	H	626	ENSP00000389600:R626H;ENSP00000371376:R626H	ENSP00000371376:R626H	R	-	2	0	TLR6	38505613	0.000000	0.05858	0.090000	0.20809	0.079000	0.17450	-1.074000	0.03427	-2.583000	0.00461	-1.199000	0.01669	CGC		0.502	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			T	38829218	C	T	38829218	3	4	238	1	0	0	0	0	1	0	0	0	15952	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	37810332	38829218	152325058	28	16824											
PITX2	5308	broad.mit.edu	37	chr4	111553638	111553638	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccgccggctgcacgccTgggccacgcgcgcgcccgcc	3	2	15	21	9	0	0	0	0	0	0	0	0	0	0	6	3	1	2	6	3	0	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:111553638T>A	ENST00000354925.2	-	5	1752		c.e5-2		PITX2_ENST00000394598.2_Splice_Site|PITX2_ENST00000394595.3_Splice_Site|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCTGCACGCCTGGGCCACGCG	0.687																																						uc003iaf.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.e5-1		Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.							38	49	45					4																	111553638		2201	4300	6501	SO:0001630	splice_region_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111553638T>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.47-2A>T	4.37:g.111553638T>A						PITX2_uc003iad.3_Splice_Site_p.G16_splice|PITX2_uc021xqr.1_Splice_Site_p.G16_splice|PITX2_uc003iae.3_Intron|PITX2_uc021xqs.1_Intron	p.G16_splice	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1870	-		Hepatocellular(203;0.217)	16					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Splice_Site	SNP	ENST00000354925.2	37	c.47_splice	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987864	0.74589	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8443	0.41017	0.0:0.0821:0.0:0.9179	.	.	.	.	.	-1	.	.	.	-	.	.	PITX2	111773087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.128000	0.42045	2.027000	0.59764	0.528000	0.53228	.		0.687	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		Intron	A	111553638	T	A	111553638	5	1	238	1	0	0	0	0	0	0	1	0	11955	1594	55	5	1129	5	PITX2	4	111553638	Splice_Site	SNP	T	TCGA-32-4211-01A-01D-1353-08	72724420	111553638	79600638	29	16825											
ANK2	287	broad.mit.edu	37	chr4	114251595	114251595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggccagtcgcctgatcGaagttggaccttctggtgct	5	11	13	12	2	1	1	0	1	1	0	3	3	1	2	4	3	1	2	4	3	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:114251595G>A	ENST00000357077.4	+	27	3147	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	ANK2_ENST00000264366.6_Missense_Mutation_p.E1032K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1032K|ANK2_ENST00000509550.1_Missense_Mutation_p.E241K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1023K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1032	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCGCCTGATCGAAGTTGGACC	0.532																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3094-3096)Gaa>Aaa		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							101	82	89					4																	114251595		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251595G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3094G>A	4.37:g.114251595G>A	ENSP00000349588:p.Glu1032Lys					ANK2_uc003ibd.4_Missense_Mutation_p.E1023K|ANK2_uc003ibf.4_Missense_Mutation_p.E1032K|ANK2_uc011cgc.2_Missense_Mutation_p.E241K|ANK2_uc003ibg.4_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	p.E1032K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	26	3194	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1021			Interaction with SPTBN1.|ZU5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3094G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.438390|5.438390	0.96168|0.96168	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.83|5.83	4.98|4.98	0.66077|0.66077	.|.	0.099964|.	0.43416|.	D|.	0.000569|.	T|T	0.67534|0.67534	0.2903|0.2903	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P|.	0.76494|.	0.999;0.999;0.987;0.999;0.968;0.593|.	D;D;P;D;P;B|.	0.69142|.	0.924;0.909;0.847;0.962;0.503;0.131|.	T|T	0.65038|0.65038	-0.6265|-0.6265	10|5	0.62326|.	D|.	0.03|.	.|.	16.8188|16.8188	0.85740|0.85740	0.0:0.1288:0.8712:0.0|0.0:0.1288:0.8712:0.0	.|.	241;77;1032;1032;1023;1023|.	E9PCH6;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;.;.;.;.;.|.	K|Q	1011;978;1023;111;1047;1032;1032;1032;1023;241|77	ENSP00000423799:E1011K;ENSP00000421011:E978K;ENSP00000421067:E1023K;ENSP00000424722:E1047K;ENSP00000378044:E1032K;ENSP00000349588:E1032K;ENSP00000264366:E1032K;ENSP00000426944:E241K|.	ENSP00000264366:E1032K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114471044|114471044	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.995000|0.995000	0.86356|0.86356	9.864000|9.864000	0.99589|0.99589	1.419000|1.419000	0.47118|0.47118	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114251595	G	A	114251595	3	1	238	1	0	0	0	0	1	0	0	0	621	1059	37	2	3265	2	ANK2	4	114251595	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2697957	114251595	76902681	30	16826											
GPM6A	2823	broad.mit.edu	37	chr4	176594942	176594942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaaatgccatacacaaaGaacgcagctgcgatgccgta	16	5	9	11	3	0	1	0	0	0	1	0	2	0	1	2	0	7	4	2	0	6	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:176594942G>C	ENST00000280187.7	-	4	321	c.276C>G	c.(274-276)ttC>ttG	p.F92L	GPM6A_ENST00000393658.2_Missense_Mutation_p.F92L|GPM6A_ENST00000506894.1_Missense_Mutation_p.F81L|GPM6A_ENST00000515090.1_Missense_Mutation_p.F85L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	92					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418																																						uc003iuf.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(274-276)ttC>ttG		Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.							75	71	73					4																	176594942		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176594942G>C		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.276C>G	4.37:g.176594942G>C	ENSP00000280187:p.Phe92Leu					GPM6A_uc011ckj.2_Missense_Mutation_p.F85L|GPM6A_uc003iug.3_Missense_Mutation_p.F92L|GPM6A_uc003iuh.3_Missense_Mutation_p.F81L	p.F92L	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	1080	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	92					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.276C>G	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632549	0.87660	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509;ENST00000505561;ENST00000505375;ENST00000513365;ENST00000509865;ENST00000512897;ENST00000507540	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.75615	2.305	0.80722	D	1	D;D;D	0.63046	0.979;0.979;0.992	D;D;D	0.76071	0.982;0.982;0.987	D	0.99026	1.0819	10	0.46703	T	0.11	-24.9441	15.2396	0.73458	0.0689:0.0:0.9311:0.0	.	85;81;92	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	L	92;92;81;85;84;29;29;29;29;29;29;29;92;29;29;29	ENSP00000280187:F92L;ENSP00000377268:F92L;ENSP00000421578:F81L;ENSP00000423984:F85L;ENSP00000422959:F84L;ENSP00000426984:F29L;ENSP00000426821:F29L;ENSP00000424075:F29L;ENSP00000421373:F29L;ENSP00000424443:F29L;ENSP00000425409:F29L;ENSP00000424125:F29L;ENSP00000423122:F92L;ENSP00000422712:F29L;ENSP00000425925:F29L;ENSP00000421407:F29L	ENSP00000280187:F92L	F	-	3	2	GPM6A	176831936	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.343000	0.65976	2.758000	0.94735	0.591000	0.81541	TTC		0.418	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			C	176594942	G	C	176594942	3	2	238	1	0	0	0	0	1	0	0	0	6615	933	33	5	580	5	GPM6A	4	176594942	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	62343347	176594942	14559334	31	16827											
DNAH5	1767	broad.mit.edu	37	chr5	13809274	13809274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtattcctgggtacgcGtgttccagtgcgtccatgta	7	12	12	10	3	0	0	0	0	0	0	3	0	3	0	3	2	2	4	3	2	3	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:13809274G>A	ENST00000265104.4	-	46	7735	c.7631C>T	c.(7630-7632)aCg>aTg	p.T2544M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2544					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2544M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGGTACGCGTGTTCCAGTG	0.438									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)	p.T2544M(2)	large_intestine(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7630-7632)aCg>aTg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							163	152	156					5																	13809274		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13809274G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7631C>T	5.37:g.13809274G>A	ENSP00000265104:p.Thr2544Met						p.T2544M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			45	7673	-	Lung NSC(4;0.00476)		2544					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7631C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408910	0.25378	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.91	5.04	0.67666	.	0.207319	0.49305	N	0.000144	T	0.31263	0.0791	M	0.69823	2.125	0.44736	D	0.997739	B	0.16396	0.017	B	0.17433	0.018	T	0.06954	-1.0798	10	0.46703	T	0.11	.	14.189	0.65625	0.0724:0.0:0.9276:0.0	.	2544	Q8TE73	DYH5_HUMAN	M	2544	ENSP00000265104:T2544M	ENSP00000265104:T2544M	T	-	2	0	DNAH5	13862274	0.998000	0.40836	0.515000	0.27774	0.055000	0.15305	2.658000	0.46733	1.484000	0.48361	0.655000	0.94253	ACG		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13809274	G	A	13809274	3	1	238	1	0	0	0	0	1	0	0	0	4604	1145	40	1	6379	1	DNAH5	5	13809274	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		13809274	167105986	32	16828											
GRAMD3	65983	broad.mit.edu	37	chr5	125822670	125822670	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacacccataatactgaGtaagacgattgcctctagct	12	10	9	10	1	1	2	0	1	1	1	1	4	1	3	2	1	3	2	2	1	4	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:125822670G>T	ENST00000285689.3	+	12	1624		c.e12+1		GRAMD3_ENST00000511134.1_Splice_Site|GRAMD3_ENST00000513040.1_Splice_Site|GRAMD3_ENST00000515200.1_Splice_Site|GRAMD3_ENST00000544396.1_Splice_Site|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000542322.1_Splice_Site|GRAMD3_ENST00000543198.1_Splice_Site|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000502348.1_Splice_Site	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3							cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATAATACTGAGTAAGACGATT	0.403																																						uc011cwt.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.e12+1		Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.							126	106	113					5																	125822670		2203	4300	6503	SO:0001630	splice_region_variant	65983							g.chr5:125822670G>T	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1163+1G>T	5.37:g.125822670G>T						GRAMD3_uc003ktu.3_Splice_Site_p.E388_splice|GRAMD3_uc011cwv.2_Splice_Site_p.E396_splice|GRAMD3_uc011cww.2_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.2_Splice_Site|GRAMD3_uc011cwy.2_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.2_Splice_Site_p.E372_splice	p.E403_splice	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	12	1444	+		Prostate(80;0.0928)	388					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Splice_Site	SNP	ENST00000285689.3	37	c.1208_splice	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885633	0.51908	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.052	0.89353	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD3	125850569	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	7.187000	0.77730	2.788000	0.95919	0.650000	0.86243	.		0.403	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	Intron	T	125822670	G	T	125822670	5	4	238	1	0	0	0	0	0	0	1	0	6751	1043	36	5	1424	5	GRAMD3	5	125822670	Splice_Site	SNP	G	TCGA-32-4211-01A-01D-1353-08	112013396	125822670	55092590	33	16829											
ADAM19	8728	broad.mit.edu	37	chr5	156916128	156916128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttcgcttgccctggggCgtctgcagcttgaaagttgg	5	12	13	11	2	1	1	0	1	1	0	2	1	1	1	2	3	3	4	2	3	1	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:156916128C>T	ENST00000517905.1	-	20	2351	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	ADAM19_ENST00000394020.1_Silent_p.T771T|ADAM19_ENST00000257527.4_Silent_p.T769T|ADAM19_ENST00000430702.2_Silent_p.T502T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	769					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCTGGGGCGTCTGCAGCT	0.483																																						uc003lwz.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2305-2307)acG>acA		Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.							82	78	80					5																	156916128		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156916128C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2307G>A	5.37:g.156916128C>T						ADAM19_uc003lww.2_Silent_p.T502T|ADAM19_uc003lwy.3_Silent_p.T368T|ADAM19_uc011ddr.1_Silent_p.T700T	p.T769T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		19	2386	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	769					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2307G>A		.	.	.	.	.	.	.	.	.	.	c	4.779	0.144898	0.09134	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.42449	0.1203	.	.	.	0.44966	D	0.997986	.	.	.	.	.	.	T	0.66348	-0.5946	4	.	.	.	.	6.1778	0.20453	0.1014:0.1293:0.395:0.3743	.	.	.	.	H	340	.	.	R	-	2	0	ADAM19	156848706	0.000000	0.05858	0.004000	0.12327	0.832000	0.47134	-5.569000	0.00113	-5.799000	0.00009	-0.786000	0.03341	CGC		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		T	156916128	C	T	156916128	2	4	238	1	0	0	0	0	0	0	0	1	240	755	27	1		1	ADAM19	5	156916128	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	31093458	156916128	23999132	34	16830											
IRF4	3662	broad.mit.edu	37	chr6	398917	398917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaagcataaggtctgccGaagccttggcgttctcaggt	9	9	12	11	2	2	0	1	0	2	0	3	1	2	0	3	3	4	2	3	3	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:398917G>A	ENST00000380956.4	+	6	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	243					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM																																	uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		1	Substitution - Missense(1)	p.E243K(1)	endometrium(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(727-729)Gaa>Aaa		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.							59	58	58					6																	398917		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398917G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.727G>A	6.37:g.398917G>A	ENSP00000370343:p.Glu243Lys					IRF4_uc010jne.2_Missense_Mutation_p.E243K|IRF4_uc003mtb.4_Missense_Mutation_p.E242K|IRF4_uc021ykl.1_Missense_Mutation_p.E89K|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	p.E243K	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	853	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	243					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.727G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672905	0.67928	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97256	-4.31	5.3	5.3	0.74995	SMAD domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	L	0.50333	1.59	0.80722	D	1	B;B;P;B	0.34864	0.308;0.448;0.473;0.206	B;B;B;B	0.25614	0.047;0.058;0.062;0.048	D	0.92309	0.5856	10	0.29301	T	0.29	-21.3648	18.9759	0.92736	0.0:0.0:1.0:0.0	.	243;273;242;243	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	K	243;272	ENSP00000370343:E243K	ENSP00000370343:E243K	E	+	1	0	IRF4	343917	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.468000	0.80943	2.474000	0.83562	0.650000	0.86243	GAA		0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	398917	G	A	398917	3	1	238	1	0	0	0	0	1	0	0	0	7832	1059	37	2	745	2	IRF4	6	398917	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		398917	170716150	35	16831											
F13A1	2162	broad.mit.edu	37	chr6	6225003	6225003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtattccaatagaatgtcaaCgcttccagtccaggccgatg	11	10	9	11	2	1	1	1	0	0	1	4	2	4	1	4	1	1	2	4	1	5	4	rs199564311		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:6225003C>T	ENST00000264870.3	-	7	1154	c.889G>A	c.(889-891)Gtt>Att	p.V297I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	297					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAATGTCAACGCTTCCAGTC	0.488													C|||	1	0.000199681	0	0	5008	,	,		17519	0.001		0	False		,,,				2504	0					uc003mwv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(889-891)Gtt>Att		Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	L-Glutamine(DB00130)						97	99	98					6																	6225003		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225003C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.889G>A	6.37:g.6225003C>T	ENSP00000264870:p.Val297Ile					F13A1_uc011dib.2_Missense_Mutation_p.V234I	p.V297I	NM_000129	NP_000120	P00488	F13A_HUMAN			6	1012	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	297					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.889G>A	CCDS4496.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	14.89	2.671441	0.47781	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.88818	-2.43	5.51	4.65	0.58169	.	0.146062	0.48767	D	0.000180	T	0.81465	0.4828	M	0.64997	1.995	0.46044	D	0.998832	B;B	0.25904	0.083;0.137	B;B	0.20184	0.017;0.028	T	0.82043	-0.0653	10	0.72032	D	0.01	.	13.2902	0.60267	0.0:0.9241:0.0:0.0759	.	234;297	F5H080;P00488	.;F13A_HUMAN	I	297;234	ENSP00000264870:V297I	ENSP00000264870:V297I	V	-	1	0	F13A1	6170002	0.996000	0.38824	0.982000	0.44146	0.764000	0.43329	2.775000	0.47702	1.322000	0.45245	0.563000	0.77884	GTT		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		T	6225003	C	T	6225003	3	4	238	1	0	0	0	0	1	0	0	0	5340	536	19	1	1345	1	F13A1	6	6225003	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	5826086	6225003	164890064	36	16832											
JARID2	3720	broad.mit.edu	37	chr6	15504806	15504806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcagcaaggagcctGccccagccgaaatcgaggtg	9	8	13	11	2	1	0	1	0	0	0	2	3	1	1	4	2	4	2	4	2	2	1	rs183236794		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:15504806G>T	ENST00000341776.2	+	9	2768	c.2524G>T	c.(2524-2526)Gcc>Tcc	p.A842S	JARID2_ENST00000397311.3_Missense_Mutation_p.A670S|JARID2_ENST00000541660.1_Missense_Mutation_p.A804S|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	842					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGGAGCCTGCCCCAGCCGA	0.522																																						uc003nbj.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2524-2526)Gcc>Tcc		Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.							63	67	66					6																	15504806		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15504806G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2524G>T	6.37:g.15504806G>T	ENSP00000341280:p.Ala842Ser					JARID2_uc011div.2_Missense_Mutation_p.A670S|JARID2_uc011diw.1_Missense_Mutation_p.A804S	p.A842S	NM_004973	NP_004964	Q92833	JARD2_HUMAN			8	2768	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	842					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2524G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861515	0.32884	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87256	-1.62;-1.63;-2.23	5.24	5.24	0.73138	.	0.153564	0.64402	D	0.000017	T	0.47340	0.1440	N	0.01874	-0.695	0.33567	D	0.598077	B;B	0.17667	0.023;0.004	B;B	0.20955	0.032;0.01	T	0.41680	-0.9495	10	0.12103	T	0.63	-9.4296	6.8249	0.23876	0.218:0.0:0.782:0.0	.	804;842	F5H590;Q92833	.;JARD2_HUMAN	S	842;670;804	ENSP00000341280:A842S;ENSP00000380478:A670S;ENSP00000444623:A804S	ENSP00000341280:A842S	A	+	1	0	JARID2	15612785	0.997000	0.39634	0.983000	0.44433	0.955000	0.61496	3.413000	0.52686	2.435000	0.82474	0.561000	0.74099	GCC		0.522	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		T	15504806	G	T	15504806	3	4	238	1	0	0	0	0	1	0	0	0	7945	1319	46	5	2558	5	JARID2	6	15504806	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	9279803	15504806	155610261	37	16833											
KIF13A	63971	broad.mit.edu	37	chr6	17800257	17800257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggctcccactttcacTggaattctccgaagagtcat	10	12	7	12	1	4	1	3	0	1	1	6	3	5	2	2	2	0	1	2	2	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:17800257T>G	ENST00000259711.6	-	21	2647	c.2542A>C	c.(2542-2544)Agt>Cgt	p.S848R	KIF13A_ENST00000378843.2_Missense_Mutation_p.S848R|KIF13A_ENST00000378816.5_Missense_Mutation_p.S848R|KIF13A_ENST00000378826.2_Missense_Mutation_p.S848R|KIF13A_ENST00000378814.5_Missense_Mutation_p.S848R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	848					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCACTTTCACTGGAATTCTCC	0.542																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2542-2544)Agt>Cgt		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							144	143	144					6																	17800257		2044	4193	6237	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17800257T>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2542A>C	6.37:g.17800257T>G	ENSP00000259711:p.Ser848Arg					KIF13A_uc003ncf.3_Missense_Mutation_p.S848R|KIF13A_uc003nch.4_Missense_Mutation_p.S848R|KIF13A_uc003nci.4_Missense_Mutation_p.S848R	p.S848R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		20	2702	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	848					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.2542A>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051714	0.75960	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.23	4.0	0.46444	.	0.089402	0.85682	D	0.000000	T	0.73434	0.3586	L	0.55481	1.735	0.51767	D	0.999936	B;D;P;D	0.89917	0.291;1.0;0.613;1.0	B;D;B;D	0.87578	0.159;0.998;0.179;0.997	T	0.75665	-0.3239	10	0.54805	T	0.06	.	10.9965	0.47580	0.1396:0.0:0.0:0.8604	.	848;848;848;848	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	R	848	ENSP00000368091:S848R;ENSP00000259711:S848R;ENSP00000368103:S848R;ENSP00000368120:S848R;ENSP00000368093:S848R	ENSP00000259711:S848R	S	-	1	0	KIF13A	17908236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.966000	0.63715	1.975000	0.57531	0.482000	0.46254	AGT		0.542	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			G	17800257	T	G	17800257	3	3	238	1	0	0	0	0	1	0	0	0	8274	1580	55	5	2976	5	KIF13A	6	17800257	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	2295451	17800257	153314810	38	16834											
ABCC10	89845	broad.mit.edu	37	chr6	43415637	43415637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcgagtgctgctggaCggcgtggacaccagccagct	7	6	16	12	3	1	0	1	0	0	0	1	3	1	2	2	4	4	3	2	4	0	0	rs144509707		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:43415637C>T	ENST00000372530.4	+	18	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_ENST00000244533.3_Silent_p.D1279D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGCTGCTGGACGGCGTGGACA	0.632																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3919-3921)gaC>gaT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.		C	,	2,4404	4.2+/-10.8	0,2,2201	44	42	43		3921,3837	-6.3	0.2	6	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	,	1307/1493,1279/1465	43415637	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415637C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3921C>T	6.37:g.43415637C>T						ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	p.D1307D	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		17	4136	+	all_lung(25;0.00536)		1307			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3921C>T	CCDS56430.1																																																																																				0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43415637	C	T	43415637	2	4	238	1	0	0	0	0	0	0	0	1	50	535	19	1		1	ABCC10	6	43415637	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	25615380	43415637	127699430	39	16835											
ENPP4	22875	broad.mit.edu	37	chr6	46111073	46111073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccatttctagctgcccacgGacctgcatttcacaaaggct	9	11	7	14	1	2	0	1	0	1	0	3	1	3	1	3	2	3	3	3	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:46111073G>C	ENST00000321037.4	+	4	1288	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	353					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCTGCCCACGGACCTGCATTT	0.388																																						uc003oxy.3																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1057-1059)gGa>gCa		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.							145	136	139					6																	46111073		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46111073G>C	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1058G>C	6.37:g.46111073G>C	ENSP00000318066:p.Gly353Ala						p.G353A	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			3	1317	+			353					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.1058G>C	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.805015	0.90623	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	D	0.82167	-1.58	5.9	5.9	0.94986	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95458	0.8540	10	0.87932	D	0	-18.4394	20.2789	0.98501	0.0:0.0:1.0:0.0	.	353	Q9Y6X5	ENPP4_HUMAN	A	353	ENSP00000318066:G353A	ENSP00000318066:G353A	G	+	2	0	ENPP4	46219032	1.000000	0.71417	0.214000	0.23707	0.993000	0.82548	9.476000	0.97823	2.788000	0.95919	0.650000	0.86243	GGA		0.388	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			C	46111073	G	C	46111073	3	2	238	1	0	0	0	0	1	0	0	0	5132	1174	41	5	1068	5	ENPP4	6	46111073	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2695436	46111073	125003994	40	16836											
SYNJ2	8871	broad.mit.edu	37	chr6	158438287	158438287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggcaagctcacggacgCgtacggctgcctgggggagc	7	6	17	11	4	1	0	1	0	0	0	1	2	1	2	1	5	4	5	1	5	3	2	rs143362296	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:158438287C>T	ENST00000355585.4	+	2	254	c.179C>T	c.(178-180)gCg>gTg	p.A60V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.A60V|SYNJ2_ENST00000449859.2_5'Flank|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A60V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	60					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGGACGCGTACGGCTGC	0.602													C|||	3	0.000599042	0	0.0014	5008	,	,		14468	0		0.001	False		,,,				2504	0.001					uc003qqx.2																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(178-180)gCg>gTg		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.		C	,VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	47	46	46		,179	5.1	0	6	dbSNP_134	46	24,8576	17.9+/-57.8	0,24,4276	yes	utr-5,missense	SYNJ2	NM_001178088.1,NM_003898.3	,64	0,27,6476	TT,TC,CC		0.2791,0.0681,0.2076	,probably-damaging	,60/1497	158438287	27,12979	2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158438287C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.179C>T	6.37:g.158438287C>T	ENSP00000347792:p.Ala60Val					SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	p.A60V	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	1	285	+			60					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.179C>T	CCDS5254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.195097|4.195097	0.78902|0.78902	6.81E-4|6.81E-4	0.002791|0.002791	ENSG00000078269|ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585|ENST00000367113	T;T;T|.	0.57907|.	0.37;0.37;0.37|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Synaptojanin, N-terminal (1);|.	0.000000|.	0.52532|.	D|.	0.000075|.	T|T	0.59211|0.59211	0.2177|0.2177	M|M	0.77616|0.77616	2.38|2.38	0.53005|0.53005	D|D	0.999969|0.999969	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.994|.	T|T	0.62978|0.62978	-0.6739|-0.6739	10|5	0.56958|.	D|.	0.05|.	.|.	15.5159|15.5159	0.75826|0.75826	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	60;60|.	O15056;O15056-3|.	SYNJ2_HUMAN;.|.	V|C	60|35	ENSP00000356089:A60V;ENSP00000356088:A60V;ENSP00000347792:A60V|.	ENSP00000347792:A60V|.	A|R	+|+	2|1	0|0	SYNJ2|SYNJ2	158358275|158358275	0.994000|0.994000	0.37717|0.37717	0.011000|0.011000	0.14972|0.14972	0.897000|0.897000	0.52465|0.52465	4.413000|4.413000	0.59795|0.59795	-3.522000|-3.522000	0.00147|0.00147	-2.081000|-2.081000	0.00379|0.00379	GCG|CGT		0.602	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158438287	C	T	158438287	3	4	238	1	0	0	0	0	1	0	0	0	15450	768	27	1	185	1	SYNJ2	6	158438287	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	112327214	158438287	12676780	41	16837											
FNDC1	84624	broad.mit.edu	37	chr6	159653361	159653361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcttttccctggccaCgcagccccgcccaggggcgc	3	6	13	19	3	0	0	0	0	0	0	1	0	1	0	6	4	1	2	6	4	0	2	rs367899713		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:159653361C>T	ENST00000297267.9	+	11	2017	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	FNDC1_ENST00000340366.6_Missense_Mutation_p.T543M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	606					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCTGGCCACGCAGCCCCGC	0.706																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1816-1818)aCg>aTg		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.		C	MET/THR	1,3979		0,1,1989	19	24	22		1817	4.6	0	6		22	0,8308		0,0,4154	no	missense	FNDC1	NM_032532.2	81	0,1,6143	TT,TC,CC		0.0,0.0251,0.0081	probably-damaging	606/1895	159653361	1,12287	1990	4154	6144	SO:0001583	missense	84624					extracellular region		g.chr6:159653361C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1817C>T	6.37:g.159653361C>T	ENSP00000297267:p.Thr606Met					FNDC1_uc010kjw.1_Missense_Mutation_p.T491M	p.T606M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	2017	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	606					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1817C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034230	0.35893	2.51E-4	0.0	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07444	3.19;4.01	4.64	4.64	0.57946	.	0.633028	0.15185	N	0.275895	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.002;0.007	T	0.44034	-0.9354	10	0.66056	D	0.02	-0.4912	7.9166	0.29822	0.0:0.8854:0.0:0.1146	.	543;606	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	M	606;543	ENSP00000297267:T606M;ENSP00000342460:T543M	ENSP00000297267:T606M	T	+	2	0	FNDC1	159573351	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.746000	0.26275	2.392000	0.81423	0.591000	0.81541	ACG		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159653361	C	T	159653361	3	4	238	1	0	0	0	0	1	0	0	0	5968	536	19	1	1859	1	FNDC1	6	159653361	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	1215074	159653361	11461706	42	16838											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844032	166844032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatctctgccggaggatgCggtccaggagctccccacca	8	7	12	14	2	1	0	0	0	1	0	4	3	3	3	5	4	3	2	5	4	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:166844032C>T	ENST00000265678.4	-	16	1713	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R505H|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R408H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R408H|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R522H	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	497	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCGGAGGATGCGGTCCAGGAG	0.592																																						uc003qvd.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1564-1566)cGc>cAc		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.							119	100	107					6																	166844032		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166844032C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1490G>A	6.37:g.166844032C>T	ENSP00000265678:p.Arg497His					RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R497H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H	p.R522H	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	17	1678	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	497			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1565G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993913	0.54041	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	3.63	3.63	0.41609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062515	0.64402	D	0.000011	T	0.62466	0.2430	L	0.39566	1.225	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;P	0.71414	0.973;0.934;0.783	T	0.63519	-0.6619	10	0.41790	T	0.15	.	14.813	0.70010	0.0:1.0:0.0:0.0	.	522;505;497	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	H	497;522;505;408;408	ENSP00000265678:R497H;ENSP00000422435:R522H;ENSP00000427015:R505H;ENSP00000422484:R408H;ENSP00000386050:R408H	ENSP00000265678:R497H	R	-	2	0	RPS6KA2	166764022	0.395000	0.25254	1.000000	0.80357	0.721000	0.41392	1.262000	0.32992	2.041000	0.60428	0.491000	0.48974	CGC		0.592	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		T	166844032	C	T	166844032	3	4	238	1	0	0	0	0	1	0	0	0	13651	768	27	1	735	1	RPS6KA2	6	166844032	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7190671	166844032	4271035	43	16839											
TTLL2	83887	broad.mit.edu	37	chr6	167754158	167754158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatataaatgtgatctccGcatctatgtttgtgttactg	10	16	8	7	1	2	2	0	1	2	1	3	2	2	2	1	0	1	3	1	0	5	5	rs34053826		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:167754158G>A	ENST00000239587.5	+	3	858	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	257	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGATCTCCGCATCTATGTT	0.358																																						uc003qvs.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(769-771)cGc>cAc		Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	167	168	168		770	2.3	0.7	6	dbSNP_126	168	0,8600		0,0,4300	yes	missense	TTLL2	NM_031949.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	257/593	167754158	1,13005	2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754158G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.770G>A	6.37:g.167754158G>A	ENSP00000239587:p.Arg257His						p.R257H	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	858	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	257			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.770G>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073916	0.36566	2.27E-4	0.0	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.28895	1.59	3.18	2.26	0.28386	.	0.000000	0.64402	D	0.000006	T	0.61899	0.2384	H	0.98980	4.39	0.40992	D	0.984861	D	0.89917	1.0	D	0.97110	1.0	T	0.74325	-0.3702	10	0.87932	D	0	.	10.9842	0.47513	0.0:0.1916:0.8084:0.0	rs34053826	257	Q9BWV7	TTLL2_HUMAN	H	257;184	ENSP00000239587:R257H	ENSP00000239587:R257H	R	+	2	0	TTLL2	167674148	1.000000	0.71417	0.673000	0.29887	0.111000	0.19643	5.001000	0.63946	0.613000	0.30089	0.484000	0.47621	CGC		0.358	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		A	167754158	G	A	167754158	3	1	238	1	0	0	0	0	1	0	0	0	16724	1087	38	1	780	1	TTLL2	6	167754158	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	910126	167754158	3360909	44	16840											
GPR141	353345	broad.mit.edu	37	chr7	37780661	37780661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatcccaccaggagttctgGgctcagctgaaaaacctatt	11	10	8	12	0	2	1	1	1	1	0	3	2	3	2	3	2	2	3	3	2	4	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:37780661G>A	ENST00000447769.1	+	4	955	c.666G>A	c.(664-666)tgG>tgA	p.W222*	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Nonsense_Mutation_p.W222*|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGTTCTGGGCTCAGCTGA	0.433																																						uc003tfm.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(664-666)tgG>tgA		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.							170	168	168					7																	37780661		2203	4300	6503	SO:0001587	stop_gained	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780661G>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.666G>A	7.37:g.37780661G>A	ENSP00000390410:p.Trp222*					BC043356_uc003tfl.3_Intron	p.W222*	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			0	666	+			222					A4D1X7|Q0VAR5|Q86SP3	Nonsense_Mutation	SNP	ENST00000447769.1	37	c.666G>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627377	0.87560	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	.	.	.	5.01	4.11	0.48088	.	0.140325	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.5362	10.0501	0.42210	0.1654:0.0:0.8346:0.0	.	.	.	.	X	222	.	ENSP00000334540:W222X	W	+	3	0	GPR141	37747186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.445000	0.44899	1.457000	0.47850	0.655000	0.94253	TGG		0.433	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		A	37780661	G	A	37780661	4	1	238	1	0	0	0	0	0	1	0	0	6649	1241	43	3	668	3	GPR141	7	37780661	Nonsense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		37780661	121358002	45	16841											
C7orf57	136288	broad.mit.edu	37	chr7	48092478	48092478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggatgcagccaggCtccaggatgcagaggcttct	8	7	13	13	0	1	1	0	0	1	1	3	3	3	3	4	4	3	4	4	4	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:48092478C>A	ENST00000348904.3	+	7	999	c.787C>A	c.(787-789)Ctc>Atc	p.L263I	C7orf57_ENST00000435376.1_Missense_Mutation_p.L125I|C7orf57_ENST00000420324.1_Missense_Mutation_p.L292I|C7orf57_ENST00000430738.1_Missense_Mutation_p.L308I|C7orf57_ENST00000539619.1_Missense_Mutation_p.L263I	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	263										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGCAGCCAGGCTCCAGGATGC	0.572																																						uc003toh.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(787-789)Ctc>Atc		Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.							35	39	38					7																	48092478		2004	4195	6199	SO:0001583	missense	136288							g.chr7:48092478C>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.787C>A	7.37:g.48092478C>A	ENSP00000335500:p.Leu263Ile					C7orf57_uc003toi.4_Missense_Mutation_p.L121I	p.L263I	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			6	999	+			263					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.787C>A	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605389	0.28623	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.47177	0.85;0.85;0.92;0.92	5.35	-2.9	0.05648	.	1.264590	0.05289	N	0.520678	T	0.28699	0.0711	L	0.36672	1.1	0.09310	N	1	B;P	0.37276	0.001;0.589	B;B	0.30316	0.002;0.114	T	0.11690	-1.0577	10	0.22109	T	0.4	-22.9373	3.9903	0.09533	0.5025:0.1932:0.2278:0.0765	.	125;263	C9JBJ8;Q8NEG2	.;CG057_HUMAN	I	292;125;308;263;263	ENSP00000394648:L292I;ENSP00000410944:L308I;ENSP00000335500:L263I;ENSP00000442474:L263I	ENSP00000335500:L263I	L	+	1	0	C7orf57	48059003	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.433000	0.02428	-0.717000	0.04955	-0.397000	0.06425	CTC		0.572	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		A	48092478	C	A	48092478	3	1	238	1	0	0	0	0	1	0	0	0	2404	797	28	5	809	5	C7orf57	7	48092478	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	10311817	48092478	111046185	46	16842											
POM121	9883	broad.mit.edu	37	chr7	72413425	72413425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgctcccatcatatccgGgagccaacccccagcccgca	8	4	7	22	3	1	0	1	0	0	0	3	1	3	1	8	1	3	2	8	1	2	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:72413425G>A	ENST00000434423.2	+	11	2893	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	POM121_ENST00000446813.1_Missense_Mutation_p.G700R|POM121_ENST00000257622.4_Missense_Mutation_p.G700R|POM121_ENST00000395270.1_Missense_Mutation_p.G700R|POM121_ENST00000358357.3_Missense_Mutation_p.G700R			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	965	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATCATATCCGGGAGCCAACCC	0.647																																						uc003twk.2																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2893-2895)Gga>Aga		Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.							9	13	12					7																	72413425		1941	3966	5907	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413425G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2893G>A	7.37:g.72413425G>A	ENSP00000405562:p.Gly965Arg					POM121_uc003twj.3_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	p.G965R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			10	2893	+		Lung NSC(55;0.163)	965			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2893G>A		.	.	.	.	.	.	.	.	.	.	G	8.893	0.954572	0.18431	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09255	3.0;3.06;3.0;3.06;3.26	2.33	2.33	0.28932	.	0.000000	0.33144	N	0.005224	T	0.24624	0.0597	M	0.66506	2.035	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.01245	-1.1407	10	0.46703	T	0.11	.	6.7656	0.23564	0.1512:0.0:0.8488:0.0	.	700;965	A8MXF9;Q96HA1	.;P121A_HUMAN	R	700;700;700;700;965	ENSP00000393020:G700R;ENSP00000257622:G700R;ENSP00000378687:G700R;ENSP00000351124:G700R;ENSP00000405562:G965R	ENSP00000257622:G700R	G	+	1	0	POM121	72051361	0.167000	0.22975	0.416000	0.26546	0.077000	0.17291	2.029000	0.41098	1.309000	0.44985	0.173000	0.16961	GGA		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72413425	G	A	72413425	3	1	238	1	0	0	0	0	1	0	0	0	12239	1233	43	3	2136	3	POM121	7	72413425	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	24320947	72413425	86725238	47	16843											
GNAT3	346562	broad.mit.edu	37	chr7	80088106	80088106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggaataaatttccttatCttctttttttaaattcaggt	10	20	6	5	0	3	0	1	0	2	0	4	1	4	1	1	2	0	0	1	2	6	9			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:80088106C>T	ENST00000398291.3	-	8	1039	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	316					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATTTCCTTATCTTCTTTTTTT	0.323																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(946-948)Gat>Aat		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							73	73	73					7																	80088106		1825	4091	5916	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80088106C>T		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.946G>A	7.37:g.80088106C>T	ENSP00000381339:p.Asp316Asn					CD36_uc003uhc.3_Intron	p.D316N	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			7	946	-			316					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.946G>A	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835762	0.50951	.	.	ENSG00000214415	ENST00000398291	D	0.88509	-2.39	5.41	5.41	0.78517	.	0.392275	0.24965	U	0.034193	T	0.76758	0.4032	N	0.03029	-0.43	0.32450	N	0.545503	P	0.37731	0.607	B	0.39971	0.315	T	0.78645	-0.2123	9	.	.	.	.	14.3998	0.67034	0.1476:0.8523:0.0:0.0	.	316	A8MTJ3	GNAT3_HUMAN	N	316	ENSP00000381339:D316N	.	D	-	1	0	GNAT3	79926042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.209000	0.42806	2.710000	0.92621	0.650000	0.86243	GAT		0.323	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		T	80088106	C	T	80088106	3	4	238	1	0	0	0	0	1	0	0	0	6513	913	32	3	120	3	GNAT3	7	80088106	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7674681	80088106	79050557	48	16844											
DLX6	1750	broad.mit.edu	37	chr7	96637111	96637111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttccagagagagccgaaCtggcagcttccttaggactg	9	8	11	13	1	0	2	0	0	0	2	2	5	2	3	4	2	3	2	4	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:96637111C>G	ENST00000518156.2	+	2	1028	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	DLX6_ENST00000555308.1_Missense_Mutation_p.L72V|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.L172V|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	82					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCCGAACTGGCAGCTTC	0.532																																						uc022ahu.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(598-600)Ctg>Gtg		Homo sapiens distal-less homeobox 6 (DLX6), mRNA.							41	40	40					7																	96637111		1903	4125	6028	SO:0001583	missense	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96637111C>G		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.598C>G	7.37:g.96637111C>G	ENSP00000428480:p.Leu200Val					DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	p.L200V	NM_005222	NP_005213	P56179	DLX6_HUMAN			1	598	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		82					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	c.598C>G	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197300	0.79015	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.98649	-5.05;-5.05;-5.05	5.62	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.56958	D	0.05	-15.0656	14.3705	0.66836	0.0:0.9289:0.0:0.0711	.	172	P56179-2	.	V	200;172;72	ENSP00000428480:L200V;ENSP00000007660:L172V;ENSP00000451635:L72V	ENSP00000007660:L172V	L	+	1	2	DLX6	96475047	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.767000	0.85331	1.368000	0.46115	0.561000	0.74099	CTG		0.532	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		G	96637111	C	G	96637111	3	3	238	1	0	0	0	0	1	0	0	0	4575	564	20	5	604	5	DLX6	7	96637111	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	16549005	96637111	62501552	49	16845											
SLC26A3	1811	broad.mit.edu	37	chr7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattttaccttgtagtaCggccacaatccctgtgctga	12	12	7	10	1	0	1	0	1	0	0	1	1	1	1	3	1	3	3	3	1	6	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:107434196C>T	ENST00000340010.5	-	3	446	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V53I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	88					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(262-264)Gta>Ata		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							49	45	47					7																	107434196		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107434196C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.262G>A	7.37:g.107434196C>T	ENSP00000345873:p.Val88Ile					SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	p.V88I	NM_000111	NP_000102	P40879	S26A3_HUMAN			2	473	-			88						Missense_Mutation	SNP	ENST00000340010.5	37	c.262G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581046	0.65992	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.90133	-2.62;-2.62;-2.62	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	N	0.20483	0.58	0.54753	D	0.999989	D;P	0.53462	0.96;0.857	B;B	0.42653	0.369;0.394	T	0.82165	-0.0592	10	0.09338	T	0.73	.	19.679	0.95950	0.0:1.0:0.0:0.0	.	53;88	G5E9U3;P40879	.;S26A3_HUMAN	I	53;88;88	ENSP00000415817:V53I;ENSP00000345873:V88I;ENSP00000395955:V88I	ENSP00000345873:V88I	V	-	1	0	SLC26A3	107221432	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.515000	0.53429	2.658000	0.90341	0.491000	0.48974	GTA		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		T	107434196	C	T	107434196	3	4	238	1	0	0	0	0	1	0	0	0	14518	536	19	1	2108	1	SLC26A3	7	107434196	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	10797085	107434196	51704467	50	16846											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138432176	138432176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggacactcacctcattGtctgtcttctgggagagcaa	10	11	9	11	0	5	1	2	0	3	1	5	3	5	2	1	2	1	1	1	2	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:138432176G>T	ENST00000310018.2	-	13	1596	c.1314C>A	c.(1312-1314)gaC>gaA	p.D438E	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.D438E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.D438E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	438					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACCTCATTGTCTGTCTTCT	0.428																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1312-1314)gaC>gaA		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							103	90	95					7																	138432176		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138432176G>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1314C>A	7.37:g.138432176G>T	ENSP00000308122:p.Asp438Glu					ATP6V0A4_uc003vug.3_Missense_Mutation_p.D438E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.D438E	p.D438E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			11	1552	-			438					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1314C>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	4.114	0.019366	0.08006	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.84298	-1.83;-1.83;-1.83	5.19	4.3	0.51218	.	0.904790	0.09684	N	0.769307	T	0.76557	0.4004	L	0.34521	1.04	0.33225	D	0.555145	B	0.27971	0.196	B	0.30943	0.122	T	0.69390	-0.5158	10	0.08179	T	0.78	-6.0151	9.771	0.40589	0.2149:0.0:0.7851:0.0	.	438	Q9HBG4	VPP4_HUMAN	E	438	ENSP00000308122:D438E;ENSP00000376774:D438E;ENSP00000253856:D438E	ENSP00000308122:D438E	D	-	3	2	ATP6V0A4	138082716	0.850000	0.29656	0.705000	0.30386	0.595000	0.36748	1.114000	0.31196	2.426000	0.82243	0.561000	0.74099	GAC		0.428	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		T	138432176	G	T	138432176	3	4	238	1	0	0	0	0	1	0	0	0	1170	1368	48	5	1248	5	ATP6V0A4	7	138432176	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	30997980	138432176	20706487	51	16847											
OR2A12	346525	broad.mit.edu	37	chr7	143792752	143792752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaaatcatgtccgtattCaaattggcctgtgctgacac	10	13	8	10	1	3	1	3	1	0	0	4	1	4	1	2	1	1	2	2	1	3	3	rs565722500		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143792752C>T	ENST00000408949.2	+	1	612	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493													.|||	1	0.000199681	0	0.0014	5008	,	,		21547	0		0	False		,,,				2504	0					uc011kty.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(550-552)ttC>ttT		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							168	161	163					7																	143792752		1971	4147	6118	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792752C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.552C>T	7.37:g.143792752C>T							p.F184F	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	552	+	Melanoma(164;0.0783)		184					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.552C>T	CCDS43670.1																																																																																				0.493	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			T	143792752	C	T	143792752	2	4	238	1	0	0	0	0	0	0	0	1	10975	825	29	3		3	OR2A12	7	143792752	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	5360576	143792752	15345911	52	16848											
OR2A7	401427	broad.mit.edu	37	chr7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgaatccttgggccaaCgggaaatcccagtaggagga	12	7	12	10	1	1	1	0	1	1	0	3	4	3	4	3	4	1	1	3	4	4	2	rs531461622		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143956670C>T	ENST00000493325.1	-	1	145	c.52G>A	c.(52-54)Gtt>Att	p.V18I	RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													c|||	1	0.000199681	8e-04	0	5008	,	,		31715	0		0	False		,,,				2504	0					uc011kuc.2																			0		p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(52-54)Gtt>Att		Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.							100	128	118					7																	143956670		2201	4297	6498	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956670C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.52G>A	7.37:g.143956670C>T	ENSP00000420502:p.Val18Ile					OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	p.V18I	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			0	52	-	Melanoma(164;0.14)		18					B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.52G>A	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	c	0.608	-0.826223	0.02734	.	.	ENSG00000243896	ENST00000493325	T	0.00433	7.43	3.21	-3.87	0.04218	.	.	.	.	.	T	0.00178	0.0005	N	0.04245	-0.25	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20273	-1.0280	9	0.39692	T	0.17	.	4.6601	0.12637	0.0891:0.4935:0.1752:0.2422	.	18	Q96R45	OR2A7_HUMAN	I	18	ENSP00000420502:V18I	ENSP00000420502:V18I	V	-	1	0	OR2A7	143587603	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.569000	0.00915	-0.991000	0.03476	-1.490000	0.00973	GTT		0.498	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			T	143956670	C	T	143956670	3	4	238	1	0	0	0	0	1	0	0	0	10982	536	19	1	883	1	OR2A7	7	143956670	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	163918	143956670	15181993	53	16849											
CYP7A1	1581	broad.mit.edu	37	chr8	59409723	59409723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagtggtatttccatccatCgggtcaatgcttctgtgccc	6	14	9	12	1	3	0	2	0	1	0	6	0	5	0	3	2	2	2	3	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:59409723C>T	ENST00000301645.3	-	3	485	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	116					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTCCATCCATCGGGTCAATGC	0.418									Neonatal Giant Cell Hepatitis																													uc003xtm.4																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(346-348)ccG>ccA		Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.							92	91	91					8																	59409723		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409723C>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.348G>A	8.37:g.59409723C>T							p.P116P	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	411	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	116					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.348G>A	CCDS6171.1																																																																																				0.418	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		T	59409723	C	T	59409723	2	4	238	1	0	0	0	0	0	0	0	1	4196	871	31	2		2	CYP7A1	8	59409723	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08		59409723	86954299	54	16850											
TRPA1	8989	broad.mit.edu	37	chr8	72948586	72948586	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgctccacattgccacTgcagatgagctggtatttca	10	12	8	11	0	1	2	1	1	0	1	2	2	2	2	2	1	4	4	2	1	2	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:72948586T>A	ENST00000262209.4	-	21	2699	c.2492A>T	c.(2491-2493)cAg>cTg	p.Q831L	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	831					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACATTGCCACTGCAGATGAGC	0.353																																						uc003xza.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2491-2493)cAg>cTg		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						66	66	66					8																	72948586		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948586T>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2492A>T	8.37:g.72948586T>A	ENSP00000262209:p.Gln831Leu					LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.Q831L	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		20	2667	-			831					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2492A>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098474	0.76870	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.38401	1.14;1.14	4.94	4.94	0.65067	Ion transport (1);	0.109096	0.64402	D	0.000005	T	0.62768	0.2455	M	0.82630	2.6	0.58432	D	0.999995	D	0.76494	0.999	D	0.72075	0.976	T	0.69745	-0.5062	10	0.87932	D	0	-15.1817	14.8799	0.70525	0.0:0.0:0.0:1.0	.	831	O75762	TRPA1_HUMAN	L	683;831	ENSP00000428151:Q683L;ENSP00000262209:Q831L	ENSP00000262209:Q831L	Q	-	2	0	TRPA1	73111140	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	5.863000	0.69568	1.960000	0.56953	0.477000	0.44152	CAG		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		A	72948586	T	A	72948586	3	1	238	1	0	0	0	0	1	0	0	0	16574	1580	55	5	895	5	TRPA1	8	72948586	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13538863	72948586	73415436	55	16851											
TMEM70	54968	broad.mit.edu	37	chr8	74888704	74888704	+	Frame_Shift_Del	DEL	T	T	-																															ttcgggagccgcgcgccttcTccggcgtccgggtcgagcgc																										TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:74888704delT	ENST00000312184.5	+	1	261	c.188delT	c.(187-189)ctcfs	p.L63fs	TMEM70_ENST00000517439.1_Frame_Shift_Del_p.L63fs|TMEM70_ENST00000523794.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	63					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GCGCGCCTTCTCCGGCGTCCG	0.766																																						uc003yab.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(187-189)ctcfs		Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							3	4	4					8																	74888704		1807	3733	5540	SO:0001589	frameshift_variant	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74888704delT	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.188delT	8.37:g.74888704delT	ENSP00000312599:p.Leu63fs					TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_Frame_Shift_Del_p.L63fs	p.L63fs	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		0	328	+	Breast(64;0.0311)		63					E9PDY9|Q9NWY5	Frame_Shift_Del	DEL	ENST00000312184.5	37	c.188delT	CCDS6215.1																																																																																				0.766	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		-	74888704	T	-	74888704	7	5	238	1	0	1	0	1	0	0	0	0	16196	1551	54	0	190	0	TMEM70	8	74888704	Frame_Shift_Del	DEL	T	TCGA-32-4211-01A-01D-1353-08	1940118	74888704	71475318	56	16852											
ZNF623	9831	broad.mit.edu	37	chr8	144733275	144733275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggaatgtgggaaagcGtttctccagaaagcccatct	12	10	11	8	1	2	1	0	0	2	1	3	3	2	3	2	2	2	2	2	2	4	2	rs530640705		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:144733275G>A	ENST00000501748.2	+	1	1322	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	ZNF623_ENST00000458270.2_Silent_p.A371A|ZNF623_ENST00000526926.1_Silent_p.A371A	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGGGAAAGCGTTTCTCCAGA	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		20035	0		0	False		,,,				2504	0					uc003yzd.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1231-1233)gcG>gcA		Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.							79	74	76					8																	144733275		2203	4300	6503	SO:0001819	synonymous_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733275G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1233G>A	8.37:g.144733275G>A						ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	p.A411A	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		0	1322	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		411					A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	c.1233G>A	CCDS34957.1																																																																																				0.478	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		A	144733275	G	A	144733275	2	1	238	1	0	0	0	0	0	0	0	1	18044	1132	40	1		1	ZNF623	8	144733275	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	69844571	144733275	1630747	57	16853											
KIAA0020	9933	broad.mit.edu	37	chr9	2829880	2829880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgatggctgatgcttccGcatgccgcagcatcttcctc	6	10	9	16	3	1	1	0	1	1	0	4	2	3	1	4	1	3	5	4	1	0	2	rs199616112		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:2829880G>A	ENST00000397885.2	-	8	952	c.746C>T	c.(745-747)gCg>gTg	p.A249V	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	249	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGATGCTTCCGCATGCCGCAG	0.443																																						uc003zhp.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(745-747)gCg>gTg		Homo sapiens KIAA0020 (KIAA0020), mRNA.							227	199	208					9																	2829880		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829880G>A	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.746C>T	9.37:g.2829880G>A	ENSP00000380982:p.Ala249Val					KIAA0020_uc003zhq.1_Missense_Mutation_p.A248V	p.A249V	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	7	842	-			249			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.746C>T	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158458	0.78114	.	.	ENSG00000080608	ENST00000397885	T	0.63417	-0.04	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.261472	0.44688	D	0.000437	T	0.63010	0.2475	L	0.57536	1.79	0.35558	D	0.804407	B;B	0.22746	0.022;0.074	B;B	0.23150	0.018;0.044	T	0.62115	-0.6922	10	0.31617	T	0.26	-19.2161	20.8794	0.99867	0.0:0.0:1.0:0.0	.	109;249	B2RDG4;Q15397	.;K0020_HUMAN	V	249	ENSP00000380982:A249V	ENSP00000380982:A249V	A	-	2	0	KIAA0020	2819880	1.000000	0.71417	0.013000	0.15412	0.767000	0.43475	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GCG		0.443	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		A	2829880	G	A	2829880	3	1	238	1	0	0	0	0	1	0	0	0	8152	1087	38	1	1244	1	KIAA0020	9	2829880	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		2829880	138383551	58	16854											
OR1L4	254973	broad.mit.edu	37	chr9	125486747	125486747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctacattccctgttccGcgtgctacttatgtctcgct	5	14	6	16	3	1	0	0	0	1	0	4	0	3	0	4	0	3	3	4	0	3	5	rs370090548		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:125486747G>A	ENST00000259466.1	+	1	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCCCTGTTCCGCGTGCTACTT	0.478																																						uc004bmu.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(478-480)cGc>cAc		Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	184	158	166		479	3.1	0	9		166	1,8593		0,1,4296	no	missense	OR1L4	NM_001005235.1	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	160/312	125486747	1,12999	2203	4297	6500	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486747G>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.479G>A	9.37:g.125486747G>A	ENSP00000259466:p.Arg160His						p.R160H	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			0	479	+			160					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.479G>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.305906	0.00240	0.0	1.16E-4	ENSG00000136939	ENST00000259466	T	0.00017	9.1	4.01	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.352654	0.24645	N	0.036780	T	0.00039	0.0001	N	0.00055	-2.37	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.43523	-0.9386	10	0.02654	T	1	-0.0046	3.5503	0.07844	0.2092:0.0:0.591:0.1998	.	160	Q8NGR5	OR1L4_HUMAN	H	160	ENSP00000259466:R160H	ENSP00000259466:R160H	R	+	2	0	OR1L4	124526568	0.000000	0.05858	0.015000	0.15790	0.384000	0.30261	0.187000	0.16998	0.914000	0.36822	0.298000	0.19748	CGC		0.478	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			A	125486747	G	A	125486747	3	1	238	1	0	0	0	0	1	0	0	0	10965	1087	38	1	481	1	OR1L4	9	125486747	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	122656867	125486747	15726684	59	16855											
ARMC3	219681	broad.mit.edu	37	chr10	23235138	23235138	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatgcttaattctccagaAgaggaaattttggctaaagc	14	13	8	6	0	1	2	0	0	1	2	2	3	1	3	1	2	2	2	1	2	6	6			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:23235138A>G	ENST00000298032.5	+	3	198	c.114A>G	c.(112-114)gaA>gaG	p.E38E	ARMC3_ENST00000409983.3_Silent_p.E38E|ARMC3_ENST00000409049.3_Silent_p.E38E|ARMC3_ENST00000376528.4_Intron	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	38						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCTCCAGAAGAGGAAATTT	0.303																																						uc001irm.4																			0		p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(112-114)gaA>gaG		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							93	100	97					10																	23235138		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23235138A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.114A>G	10.37:g.23235138A>G						ARMC3_uc010qcv.2_Silent_p.E38E|ARMC3_uc010qcw.2_Intron	p.E38E	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			2	197	+			38					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.114A>G	CCDS7142.1																																																																																				0.303	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		G	23235138	A	G	23235138	2	3	238	1	0	0	0	0	0	0	0	1	952	69	3	4		4	ARMC3	10	23235138	Silent	SNP	A	TCGA-32-4211-01A-01D-1353-08		23235138	112299609	60	16856											
ARMC4	55130	broad.mit.edu	37	chr10	28283881	28283881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcaaatgctgagggcGccaaacttgtgttccattca	10	12	9	10	1	2	2	2	2	0	0	3	2	3	2	2	1	2	2	2	1	2	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:28283881G>A	ENST00000305242.5	-	2	283	c.191C>T	c.(190-192)gCg>gTg	p.A64V		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	64					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCTGAGGGCGCCAAACTTGT	0.358																																						uc009xky.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(190-192)gCg>gTg		Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.							79	74	76					10																	28283881		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28283881G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.191C>T	10.37:g.28283881G>A	ENSP00000306410:p.Ala64Val					ARMC4_uc001itz.3_Missense_Mutation_p.A64V	p.A64V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			1	289	-			64					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.191C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	2.443	-0.328259	0.05314	.	.	ENSG00000169126	ENST00000305242	T	0.30182	1.54	4.98	-2.43	0.06522	.	0.786081	0.11319	N	0.576283	T	0.14917	0.0360	N	0.14661	0.345	0.26633	N	0.972429	B	0.15719	0.014	B	0.06405	0.002	T	0.15464	-1.0436	10	0.54805	T	0.06	-9.9834	5.7286	0.18026	0.1062:0.0629:0.4442:0.3867	.	64	Q5T2S8	ARMC4_HUMAN	V	64	ENSP00000306410:A64V	ENSP00000306410:A64V	A	-	2	0	ARMC4	28323887	0.237000	0.23815	0.001000	0.08648	0.001000	0.01503	0.848000	0.27710	-0.800000	0.04433	-2.943000	0.00086	GCG		0.358	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		A	28283881	G	A	28283881	3	1	238	1	0	0	0	0	1	0	0	0	953	1087	38	1	3019	1	ARMC4	10	28283881	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	5048743	28283881	107250866	61	16857											
DNTT	1791	broad.mit.edu	37	chr10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagcctgaaatttacacGaatgcagaaagcaggtaaat	19	7	8	7	1	0	2	0	1	0	1	0	3	0	2	1	1	4	3	1	1	8	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:98084132G>A	ENST00000371174.2	+	6	962	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_ENST00000419175.1_Missense_Mutation_p.R287Q			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	287	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453																																						uc001kmf.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(859-861)cGa>cAa		Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.							106	102	103					10																	98084132		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98084132G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.860G>A	10.37:g.98084132G>A	ENSP00000360216:p.Arg287Gln					DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	5	1030	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	287			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.860G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	6.199	0.404895	0.11754	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.45276	0.9;0.9	4.69	-7.24	0.01475	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	1.469460	0.03710	N	0.250072	T	0.26484	0.0647	L	0.28556	0.865	0.09310	N	1	B;B	0.21753	0.049;0.06	B;B	0.17098	0.01;0.017	T	0.23511	-1.0186	10	0.10377	T	0.69	-10.9344	11.1001	0.48168	0.7323:0.1044:0.1633:0.0	.	287;287	P04053-2;P04053	.;TDT_HUMAN	Q	287	ENSP00000401169:R287Q;ENSP00000360216:R287Q	ENSP00000360216:R287Q	R	+	2	0	DNTT	98074122	0.002000	0.14202	0.001000	0.08648	0.950000	0.60333	-0.421000	0.07053	-1.610000	0.01583	0.655000	0.94253	CGA		0.453	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		A	98084132	G	A	98084132	3	1	238	1	0	0	0	0	1	0	0	0	4680	1058	37	2	882	2	DNTT	10	98084132	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	69800251	98084132	37450615	62	16858											
ITPRIP	85450	broad.mit.edu	37	chr10	106075308	106075308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccagcaagtcatccaCgaagccttccaggaactccc	10	7	8	16	1	1	0	1	0	0	0	5	2	5	1	5	2	3	2	5	2	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:106075308C>T	ENST00000337478.1	-	2	673	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.V168M|ITPRIP_ENST00000278071.2_Missense_Mutation_p.V168M	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	168						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V168M(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGTCATCCACGAAGCCTTCC	0.622																																						uc001kyf.3																			1	Substitution - Missense(1)	p.V168M(2)	breast(1)	breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(502-504)Gtg>Atg		Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.							55	59	57					10																	106075308		2202	4300	6502	SO:0001583	missense	85450					plasma membrane		g.chr10:106075308C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.502G>A	10.37:g.106075308C>T	ENSP00000337178:p.Val168Met					ITPRIP_uc001kye.3_Missense_Mutation_p.V168M|ITPRIP_uc001kyg.3_Missense_Mutation_p.V168M|ITPRIP_uc021pxv.1_Missense_Mutation_p.V168M	p.V168M	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	955	-			168					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.502G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700992	0.68501	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.29397	1.57;1.57;1.57	5.68	5.68	0.88126	.	0.058763	0.64402	D	0.000003	T	0.51398	0.1672	L	0.56769	1.78	0.43919	D	0.996562	D	0.76494	0.999	P	0.60117	0.869	T	0.50709	-0.8796	10	0.87932	D	0	-37.4218	19.7782	0.96405	0.0:1.0:0.0:0.0	.	168	Q8IWB1	IPRI_HUMAN	M	168	ENSP00000337178:V168M;ENSP00000278071:V168M;ENSP00000350915:V168M	ENSP00000278071:V168M	V	-	1	0	ITPRIP	106065298	1.000000	0.71417	0.980000	0.43619	0.492000	0.33523	7.487000	0.81328	2.676000	0.91093	0.563000	0.77884	GTG		0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		T	106075308	C	T	106075308	3	4	238	1	0	0	0	0	1	0	0	0	7923	536	19	1	1145	1	ITPRIP	10	106075308	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7991176	106075308	29459439	63	16859											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077216	19077216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttccagatccataatattAggaaccactgaatgccaaag	15	9	6	11	0	0	2	0	1	0	1	2	3	2	3	5	1	2	0	5	1	6	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:19077216A>G	ENST00000329773.2	-	2	821	c.734T>C	c.(733-735)cTa>cCa	p.L245P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	245					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATAATATTAGGAACCACTG	0.498																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.3																			0		p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(733-735)cTa>cCa		Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.							62	64	63					11																	19077216		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077216A>G		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.734T>C	11.37:g.19077216A>G	ENSP00000333800:p.Leu245Pro					MRGPRX2_uc021qer.1_Missense_Mutation_p.L245P	p.L245P	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			1	822	-			245					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.734T>C	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486652	0.44249	.	.	ENSG00000183695	ENST00000329773	T	0.44482	0.92	4.87	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.552403	0.15477	N	0.260271	T	0.70298	0.3208	H	0.94345	3.525	0.19575	N	0.999966	D	0.89917	1.0	D	0.85130	0.997	T	0.61950	-0.6957	10	0.87932	D	0	.	7.5245	0.27647	0.9033:0.0:0.0967:0.0	.	245	Q96LB1	MRGX2_HUMAN	P	245	ENSP00000333800:L245P	ENSP00000333800:L245P	L	-	2	0	MRGPRX2	19033792	0.001000	0.12720	0.020000	0.16555	0.014000	0.08584	1.304000	0.33482	0.995000	0.38917	0.533000	0.62120	CTA		0.498	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		G	19077216	A	G	19077216	3	3	238	1	0	0	0	0	1	0	0	0	9767	420	15	4	262	4	MRGPRX2	11	19077216	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08		19077216	115929300	64	16860											
C11orf94	143678	broad.mit.edu	37	chr11	45928455	45928455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggctgcgagagttccAggggggcggaaaatgcctca	11	6	16	8	2	1	1	1	0	0	1	2	3	2	2	2	5	2	2	2	5	3	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:45928455A>G	ENST00000449465.1	-	2	176	c.140T>C	c.(139-141)cTg>cCg	p.L47P	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	47						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGA	0.617																																						uc001nbs.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						c.(139-141)cTg>cCg		Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.							63	76	71					11																	45928455		2016	4171	6187	SO:0001583	missense	143678					extracellular region		g.chr11:45928455A>G		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.140T>C	11.37:g.45928455A>G	ENSP00000401498:p.Leu47Pro						p.L47P	NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN			1	177	-			47						Missense_Mutation	SNP	ENST00000449465.1	37	c.140T>C	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432233	0.43122	.	.	ENSG00000234776	ENST00000449465	T	0.54071	0.59	4.73	4.73	0.59995	.	.	.	.	.	T	0.71239	0.3316	.	.	.	0.58432	D	0.999993	D	0.76494	0.999	D	0.74023	0.982	T	0.75741	-0.3211	8	0.87932	D	0	-22.7433	12.7909	0.57533	1.0:0.0:0.0:0.0	.	47	C9JXX5	CK094_HUMAN	P	47	ENSP00000401498:L47P	ENSP00000401498:L47P	L	-	2	0	C11orf94	45885031	1.000000	0.71417	0.942000	0.38095	0.073000	0.16967	5.704000	0.68347	1.763000	0.52060	0.482000	0.46254	CTG		0.617	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		G	45928455	A	G	45928455	3	3	238	1	0	0	0	0	1	0	0	0	1673	188	7	4	164	4	C11orf94	11	45928455	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	26851239	45928455	89078061	65	16861											
SMTNL1	219537	broad.mit.edu	37	chr11	57314061	57314061	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcttccctgacgcctttGactacgcagagctggatccc	7	11	9	14	2	1	3	0	2	1	1	3	4	3	4	3	1	2	3	3	1	1	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:57314061G>C	ENST00000399154.2	+	7	1165	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	SMTNL1_ENST00000457912.1_Missense_Mutation_p.D444H|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D426H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	389	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGACGCCTTTGACTACGCAGA	0.587																																						uc021qjh.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(1276-1278)Gac>Cac		Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.							91	89	90					11																	57314061		2198	4296	6494	SO:0001583	missense	219537							g.chr11:57314061G>C	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.1165G>C	11.37:g.57314061G>C	ENSP00000382108:p.Asp389His						p.D426H	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			5	1278	+			426						Missense_Mutation	SNP	ENST00000399154.2	37	c.1276G>C		.	.	.	.	.	.	.	.	.	.	G	24.8	4.573041	0.86542	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.63744	-0.06;-0.06;-0.06	4.74	4.74	0.60224	.	0.000000	0.33110	U	0.005279	D	0.84696	0.5529	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89277	0.3609	10	0.87932	D	0	-24.1777	16.64	0.85069	0.0:0.0:1.0:0.0	.	444	C9J621	.	H	444;426;389	ENSP00000406485:D444H;ENSP00000432651:D426H;ENSP00000382108:D389H	ENSP00000382108:D389H	D	+	1	0	SMTNL1	57070637	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	9.584000	0.98220	2.464000	0.83262	0.561000	0.74099	GAC		0.587	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		C	57314061	G	C	57314061	3	2	238	1	0	0	0	0	1	0	0	0	14815	1290	45	5	1356	5	SMTNL1	11	57314061	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	11385606	57314061	77692455	66	16862											
NUMA1	4926	broad.mit.edu	37	chr11	71729532	71729532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggctaggcggtcaatgCgctgctgcatcatggctatc	7	9	14	11	2	2	0	2	0	0	0	3	0	2	0	0	4	3	6	0	4	3	2	rs190582413		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:71729532C>T	ENST00000393695.3	-	11	1101	c.770G>A	c.(769-771)cGc>cAc	p.R257H	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R257H|NUMA1_ENST00000351960.6_Missense_Mutation_p.R257H	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGGTCAATGCGCTGCTGCAT	0.557			T	RARA	APL								C|||	1	0.000199681	0	0	5008	,	,		21111	0.001		0	False		,,,				2504	0					uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(769-771)cGc>cAc		Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.							53	49	50					11																	71729532		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729532C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.770G>A	11.37:g.71729532C>T	ENSP00000377298:p.Arg257His					NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.2_Missense_Mutation_p.R257H|NUMA1_uc001orp.3_Missense_Mutation_p.R257H|NUMA1_uc001orq.3_Missense_Mutation_p.R257H	p.R257H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			10	942	-			257						Missense_Mutation	SNP	ENST00000393695.3	37	c.770G>A	CCDS31633.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.91	3.251622	0.59212	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.62105	1.75;1.82;1.8;0.54;0.05	5.36	4.45	0.53987	.	0.235198	0.39210	N	0.001421	T	0.67813	0.2933	L	0.32530	0.975	0.33704	D	0.614878	D;B;B;B;D;B	0.89917	1.0;0.098;0.098;0.119;1.0;0.013	D;B;B;B;D;B	0.91635	0.999;0.023;0.023;0.029;0.996;0.01	T	0.76493	-0.2939	10	0.66056	D	0.02	.	10.3323	0.43829	0.0:0.8469:0.0:0.1531	.	257;257;257;257;257;257	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	H	257	ENSP00000260051:R257H;ENSP00000351851:R257H;ENSP00000377298:R257H;ENSP00000444880:R257H;ENSP00000442936:R257H	ENSP00000260051:R257H	R	-	2	0	NUMA1	71407180	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	1.649000	0.37281	1.398000	0.46701	-0.140000	0.14226	CGC		0.557	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71729532	C	T	71729532	3	4	238	1	0	0	0	0	1	0	0	0	10750	768	27	1	5645	1	NUMA1	11	71729532	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	14415471	71729532	63276984	67	16863											
ADAMTS20	80070	broad.mit.edu	37	chr12	43846340	43846340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtatcttggaagccacCtcacattagagggaatgcca	12	9	9	11	0	2	1	1	0	1	1	2	3	2	3	3	2	2	1	3	2	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:43846340C>G	ENST00000389420.3	-	13	1918	c.1919G>C	c.(1918-1920)aGg>aCg	p.R640T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R640T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	640	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGAAGCCACCTCACATTAGA	0.368																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1918-1920)aGg>aCg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							86	77	80					12																	43846340		2203	4299	6502	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846340C>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1919G>C	12.37:g.43846340C>G	ENSP00000374071:p.Arg640Thr						p.R640T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1919	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	640			Cys-rich.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1919G>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749078	0.69533	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.59364	4.38;0.27	4.85	4.85	0.62838	.	0.000000	0.47852	D	0.000210	T	0.71239	0.3316	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72597	-0.4245	10	0.56958	D	0.05	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	640	P59510	ATS20_HUMAN	T	640	ENSP00000374071:R640T;ENSP00000448341:R640T	ENSP00000374068:R640T	R	-	2	0	ADAMTS20	42132607	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.445000	0.80570	2.624000	0.88883	0.563000	0.77884	AGG		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		G	43846340	C	G	43846340	3	3	238	1	0	0	0	0	1	0	0	0	266	681	24	5	3920	5	ADAMTS20	12	43846340	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		43846340	90005555	68	16864											
DCTN2	10540	broad.mit.edu	37	chr12	57939864	57939864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgctagtttcataaacatCtggctcattcctggcctgca	8	13	8	12	1	3	0	2	0	1	0	5	0	4	0	2	2	2	4	2	2	3	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:57939864C>T	ENST00000548249.1	-	2	319	c.52G>A	c.(52-54)Gat>Aat	p.D18N	DCTN2_ENST00000434715.3_Missense_Mutation_p.D18N|DCTN2_ENST00000543672.1_Missense_Mutation_p.D18N	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCATAAACATCTGGCTCATTC	0.517																																						uc021qzn.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(52-54)Gat>Aat		Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.							131	134	133					12																	57939864		2099	4227	6326	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57939864C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.52G>A	12.37:g.57939864C>T	ENSP00000447824:p.Asp18Asn					DCTN2_uc001som.1_Missense_Mutation_p.D18N|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR	p.D18N	NM_006400	NP_006391	Q13561	DCTN2_HUMAN			1	184	-			18					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.52G>A	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194133	0.94960	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000354743;ENST00000550954;ENST00000546670	.	.	.	5.23	4.34	0.51931	.	0.048703	0.85682	D	0.000000	T	0.80374	0.4611	M	0.83774	2.66	0.80722	D	1	D;P;P	0.89917	1.0;0.876;0.709	D;P;P	0.87578	0.998;0.508;0.641	D	0.84108	0.0399	9	0.87932	D	0	0.0292	15.2585	0.73603	0.0:0.8586:0.1414:0.0	.	18;18;18	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	N	18	.	ENSP00000346785:D18N	D	-	1	0	DCTN2	56226131	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.584000	0.74057	1.361000	0.45981	-0.122000	0.15005	GAT		0.517	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		T	57939864	C	T	57939864	3	4	238	1	0	0	0	0	1	0	0	0	4307	913	32	3	1206	3	DCTN2	12	57939864	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	14093524	57939864	75912031	69	16865											
TMTC2	160335	broad.mit.edu	37	chr12	83251229	83251229	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggggctggttcctggggtCaggactgtgcgcaggatgca	5	9	18	9	1	1	0	1	0	0	0	2	2	2	2	1	7	2	4	1	7	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251229C>G	ENST00000321196.3	+	2	1231	c.524C>G	c.(523-525)tCa>tGa	p.S175*	TMTC2_ENST00000548305.1_Nonsense_Mutation_p.S175*|TMTC2_ENST00000549919.1_Nonsense_Mutation_p.S169*	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	175					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTCCTGGGGTCAGGACTGTGC	0.507																																						uc001szt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(523-525)tCa>tGa		Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.							98	78	85					12																	83251229		2203	4300	6503	SO:0001587	stop_gained	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251229C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.524C>G	12.37:g.83251229C>G	ENSP00000322300:p.Ser175*					TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.2_Intron	p.S175*	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			1	956	+			175					B2RCU7|Q8N2K8	Nonsense_Mutation	SNP	ENST00000321196.3	37	c.524C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	42	9.389379	0.99156	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	.	.	.	5.6	5.6	0.85130	.	0.178303	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.3075	18.1624	0.89712	0.0:1.0:0.0:0.0	.	.	.	.	X	175;175;169	.	ENSP00000322300:S175X	S	+	2	0	TMTC2	81775360	0.996000	0.38824	0.961000	0.40146	0.873000	0.50193	5.869000	0.69613	2.788000	0.95919	0.650000	0.86243	TCA		0.507	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		G	83251229	C	G	83251229	4	3	238	1	0	0	0	0	0	1	0	0	16258	838	29	5	530	5	TMTC2	12	83251229	Nonsense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	25311365	83251229	50600666	70	16866											
TMTC2	160335	broad.mit.edu	37	chr12	83251308	83251308	+	Silent	SNP	C	C	G																															gtttcagcagtttatgatgtCtttgtctttcacaggctgaa																										TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251308C>G	ENST00000321196.3	+	2	1310	c.603C>G	c.(601-603)gtC>gtG	p.V201V	TMTC2_ENST00000548305.1_Silent_p.V201V|TMTC2_ENST00000549919.1_Silent_p.V195V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	201					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTATGATGTCTTTGTCTTTC	0.443																																						uc001szt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(601-603)gtC>gtG		Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.							106	90	96					12																	83251308		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251308C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.603C>G	12.37:g.83251308C>G						TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.2_Intron	p.V201V	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			1	1035	+			201					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.603C>G	CCDS9025.1																																																																																				0.443	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		G	83251308	C	G	83251308	2	3	238	1	0	0	0	0	0	0	0	1	16258	900	32	5		5	TMTC2	12	83251308	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	79	83251308	50600587	71	16867	21	2									
TMTC2	160335	broad.mit.edu	37	chr12	83251314	83251314	+	Silent	SNP	C	C	G																															gcagtttatgatgtctttgtCtttcacaggctgaaaataaa																								rs138847027	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251314C>G	ENST00000321196.3	+	2	1316	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TMTC2_ENST00000548305.1_Silent_p.V203V|TMTC2_ENST00000549919.1_Silent_p.V197V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	203					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCTTTGTCTTTCACAGGC	0.428																																						uc001szt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(607-609)gtC>gtG		Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.							100	86	90					12																	83251314		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251314C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.609C>G	12.37:g.83251314C>G						TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.2_Intron	p.V203V	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			1	1041	+			203					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.609C>G	CCDS9025.1																																																																																				0.428	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		G	83251314	C	G	83251314	2	3	238	1	0	0	0	0	0	0	0	1	16258	900	32	5		5	TMTC2	12	83251314	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	6	83251314	50600581	72	16868	21	2									
HVCN1	84329	broad.mit.edu	37	chr12	111089040	111089040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accattgatgatccgggccaCccgccacagccggagcagaa	11	4	11	15	3	0	3	0	2	0	1	1	4	1	4	6	2	2	1	6	2	1	1	rs543818690		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:111089040C>A	ENST00000356742.5	-	5	1378	c.625G>T	c.(625-627)Gtg>Ttg	p.V209L	HVCN1_ENST00000242607.8_Missense_Mutation_p.V209L|HVCN1_ENST00000548312.1_Missense_Mutation_p.V209L|HVCN1_ENST00000439744.2_Missense_Mutation_p.V189L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	209					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATCCGGGCCACCCGCCACAGC	0.602																																						uc001trs.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(625-627)Gtg>Ttg		Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.							64	54	57					12																	111089040		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111089040C>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.625G>T	12.37:g.111089040C>A	ENSP00000349181:p.Val209Leu					HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	p.V209L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			5	790	-			209					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.625G>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	29.4	5.000189	0.93227	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.85130	0.997;0.853	D	0.99698	1.1003	10	0.72032	D	0.01	-39.281	19.6266	0.95679	0.0:1.0:0.0:0.0	.	209;209	Q96D96;Q96D96-3	HVCN1_HUMAN;.	L	209;209;209;189	ENSP00000449601:V209L;ENSP00000242607:V209L;ENSP00000349181:V209L;ENSP00000412052:V189L	ENSP00000242607:V209L	V	-	1	0	HVCN1	109573423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.065000	0.71176	2.648000	0.89879	0.556000	0.70494	GTG		0.602	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		A	111089040	C	A	111089040	3	1	238	1	0	0	0	0	1	0	0	0	7462	507	18	5	208	5	HVCN1	12	111089040	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	27837726	111089040	22762855	73	16869											
TBX5	6910	broad.mit.edu	37	chr12	114832609	114832609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagacgtgagtgcagaaCgctgtattttttgagccaaa	13	10	12	6	2	0	4	0	2	0	2	0	5	0	5	1	1	3	3	1	1	4	4	rs139329918	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:114832609C>T	ENST00000310346.4	-	6	1266	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TBX5_ENST00000405440.2_Silent_p.A200A|TBX5_ENST00000349716.5_Silent_p.A150A|TBX5_ENST00000526441.1_Silent_p.A200A|TBX5_ENST00000552726.1_5'Flank	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	200					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A200A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGTGCAGAACGCTGTATTTT	0.433																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			1	Substitution - coding silent(1)	p.A200A(2)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(598-600)gcG>gcA		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							217	216	216					12																	114832609		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832609C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.600G>A	12.37:g.114832609C>T						TBX5_uc001tvp.3_Silent_p.A200A|TBX5_uc001tvq.3_Silent_p.A150A|TBX5_uc010syv.2_Silent_p.A200A	p.A200A	NM_181486	NP_542448	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	1095	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		200					A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.600G>A	CCDS9173.1																																																																																				0.433	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114832609	C	T	114832609	2	4	238	1	0	0	0	0	0	0	0	1	15658	523	19	1		1	TBX5	12	114832609	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	3743569	114832609	19019286	74	16870											
GCN1L1	10985	broad.mit.edu	37	chr12	120596393	120596393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactctggcttcagcaggcGcagggtcacgtggctcacca	8	7	12	14	2	4	0	3	0	1	0	4	0	4	0	1	4	1	4	1	4	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:120596393G>A	ENST00000300648.6	-	25	2788	c.2776C>T	c.(2776-2778)Cgc>Tgc	p.R926C		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	926					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCAGGCGCAGGGTCACG	0.582																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2776-2778)Cgc>Tgc		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							34	37	36					12																	120596393		2109	4224	6333	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120596393G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2776C>T	12.37:g.120596393G>A	ENSP00000300648:p.Arg926Cys						p.R926C	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			24	2789	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		926					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2776C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854976	0.91355	.	.	ENSG00000089154	ENST00000300648	T	0.05447	3.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02411	-1.1163	10	0.87932	D	0	.	19.196	0.93689	0.0:0.0:1.0:0.0	.	926	Q92616	GCN1L_HUMAN	C	926	ENSP00000300648:R926C	ENSP00000300648:R926C	R	-	1	0	GCN1L1	119080776	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.028000	0.93712	2.543000	0.85770	0.655000	0.94253	CGC		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			A	120596393	G	A	120596393	3	1	238	1	0	0	0	0	1	0	0	0	6299	1087	38	1	5375	1	GCN1L1	12	120596393	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	5763784	120596393	13255502	75	16871											
SYT16	83851	broad.mit.edu	37	chr14	62547880	62547880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcctgtacgctgcccGgaagatgacccgagagagaa	10	6	12	13	4	0	4	0	1	0	3	1	7	1	5	4	1	2	2	4	1	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:62547880G>A	ENST00000430451.2	+	4	1519	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	441	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TACGCTGCCCGGAAGATGACC	0.567																																						uc001xfu.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1321-1323)cGg>cAg		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							32	34	34					14																	62547880		2178	4288	6466	SO:0001583	missense	83851							g.chr14:62547880G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1322G>A	14.37:g.62547880G>A	ENSP00000394700:p.Arg441Gln					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.R441Q	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1519	+			441			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1322G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794219	0.50102	.	.	ENSG00000139973	ENST00000430451	T	0.79352	-1.26	4.96	2.98	0.34508	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.473004	0.23583	N	0.046621	T	0.60919	0.2306	L	0.39898	1.24	0.80722	D	1	P	0.37864	0.61	B	0.29598	0.104	T	0.61033	-0.7144	10	0.48119	T	0.1	-29.4563	4.95	0.14009	0.243:0.0:0.5989:0.1581	.	441	Q17RD7	SYT16_HUMAN	Q	441	ENSP00000394700:R441Q	ENSP00000394700:R441Q	R	+	2	0	SYT16	61617633	0.287000	0.24315	0.991000	0.47740	0.853000	0.48598	1.736000	0.38187	1.423000	0.47198	0.650000	0.86243	CGG		0.567	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		A	62547880	G	A	62547880	3	1	238	1	0	0	0	0	1	0	0	0	15469	1116	39	2	1336	2	SYT16	14	62547880	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		62547880	44801660	76	16872											
NRXN3	9369	broad.mit.edu	37	chr14	80130234	80130234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtacgcttcaccaggaaCggcggcaacgccaccctgca	9	5	12	15	4	1	0	1	0	0	0	1	1	1	1	3	4	4	4	3	4	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:80130234C>T	ENST00000557594.1	+	3	1496	c.543C>T	c.(541-543)aaC>aaT	p.N181N	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Silent_p.N181N|NRXN3_ENST00000554719.1_Silent_p.N813N|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Silent_p.N813N|NRXN3_ENST00000281127.7_Silent_p.N181N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	181	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCACCAGGAACGGCGGCAACG	0.488																																						uc001xun.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(2437-2439)aaC>aaT		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							125	110	115					14																	80130234		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80130234C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.543C>T	14.37:g.80130234C>T						NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.3_Silent_p.N181N|NRXN3_uc001xur.4_Silent_p.N181N	p.N813N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	13	2930	+		Renal(4;0.00876)	181					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2439C>T																																																																																					0.488	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		T	80130234	C	T	80130234	2	4	238	1	0	0	0	0	0	0	0	1	10667	535	19	1		1	NRXN3	14	80130234	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	17582354	80130234	27219306	77	16873											
JAG2	3714	broad.mit.edu	37	chr14	105609172	105609172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgagaggaacttctccgCctccagggagtcctcctcac	7	9	11	14	1	2	1	1	1	1	1	6	4	5	3	5	2	1	0	5	2	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:105609172C>T	ENST00000331782.3	-	26	3980	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T	JAG2_ENST00000347004.2_Missense_Mutation_p.A1155T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1193					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AACTTCTCCGCCTCCAGGGAG	0.706																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3577-3579)Gcg>Acg		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.							28	27	27					14																	105609172		2201	4299	6500	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609172C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3577G>A	14.37:g.105609172C>T	ENSP00000328169:p.Ala1193Thr					JAG2_uc001yqf.3_Missense_Mutation_p.A597T|JAG2_uc001yqh.3_Missense_Mutation_p.A1155T	p.A1193T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3981	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1193					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3577G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729255	0.48833	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86497	-2.13;-2.13	4.85	4.85	0.62838	.	0.988144	0.08245	N	0.975508	D	0.83806	0.5334	L	0.44542	1.39	0.29606	N	0.847305	B;B	0.23249	0.082;0.049	B;B	0.24394	0.053;0.024	T	0.75033	-0.3460	10	0.42905	T	0.14	.	11.1556	0.48486	0.0:0.9085:0.0:0.0915	.	1155;1193	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	1193;1155	ENSP00000328169:A1193T;ENSP00000328566:A1155T	ENSP00000328169:A1193T	A	-	1	0	JAG2	104680217	0.833000	0.29383	0.968000	0.41197	0.505000	0.33919	3.256000	0.51492	2.248000	0.74166	0.561000	0.74099	GCG		0.706	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105609172	C	T	105609172	3	4	238	1	0	0	0	0	1	0	0	0	7935	739	26	3	143	3	JAG2	14	105609172	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	25478938	105609172	1740368	78	16874											
SLC28A2	9153	broad.mit.edu	37	chr15	45556870	45556870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtgtcctggaggacagtGttttcgggcctaggtcttca	6	13	14	8	1	2	0	1	0	1	0	4	2	3	2	2	5	0	1	2	5	2	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:45556870G>A	ENST00000347644.3	+	7	671	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	202					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.V202V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GGAGGACAGTGTTTTCGGGCC	0.433																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - coding silent(1)	p.V202V(2)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(604-606)gtG>gtA		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.							154	140	145					15																	45556870		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45556870G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.606G>A	15.37:g.45556870G>A							p.V202V	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	6	671	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	202					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.606G>A	CCDS10121.1																																																																																				0.433	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		A	45556870	G	A	45556870	2	1	238	1	0	0	0	0	0	0	0	1	14532	1364	48	3		3	SLC28A2	15	45556870	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08		45556870	56974522	79	16875											
HERC1	8925	broad.mit.edu	37	chr15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcagcgtggcatggCgcccagtttgcttgtgaaca	7	9	12	13	2	0	1	0	1	0	0	1	1	1	1	2	2	4	4	2	2	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:63970125C>T	ENST00000443617.2	-	37	7076	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2330					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6988-6990)cGc>cAc		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							155	160	158					15																	63970125		2146	4261	6407	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970125C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6989G>A	15.37:g.63970125C>T	ENSP00000390158:p.Arg2330His						p.R2330H	NM_003922	NP_003913	Q15751	HERC1_HUMAN			36	7137	-			2330					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6989G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452210	0.96223	.	.	ENSG00000103657	ENST00000443617	T	0.31510	1.49	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.54271	0.1848	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.52563	-0.8559	10	0.87932	D	0	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	2330	Q15751	HERC1_HUMAN	H	2330	ENSP00000390158:R2330H	ENSP00000390158:R2330H	R	-	2	0	HERC1	61757178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	CGC		0.527	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63970125	C	T	63970125	3	4	238	1	0	0	0	0	1	0	0	0	7057	768	27	1	7764	1	HERC1	15	63970125	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	18413255	63970125	38561267	80	16876											
TLE3	7090	broad.mit.edu	37	chr15	70347545	70347545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgtgttgatctgccggGcgtgcctcgggatgccgggg	3	10	19	9	4	1	2	0	2	1	0	2	3	1	3	3	4	3	1	3	4	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:70347545G>A	ENST00000558939.1	-	15	2807	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	TLE3_ENST00000317509.8_Missense_Mutation_p.A465V|TLE3_ENST00000558201.1_Missense_Mutation_p.A483V|TLE3_ENST00000560939.1_Missense_Mutation_p.A479V|TLE3_ENST00000559048.1_Missense_Mutation_p.A477V|TLE3_ENST00000451782.2_Missense_Mutation_p.A474V|TLE3_ENST00000558379.1_Missense_Mutation_p.A472V|TLE3_ENST00000557997.1_Missense_Mutation_p.A469V|TLE3_ENST00000559191.1_Missense_Mutation_p.A58V|TLE3_ENST00000557907.1_Missense_Mutation_p.A469V|TLE3_ENST00000539550.1_Missense_Mutation_p.A404V|TLE3_ENST00000559929.1_Missense_Mutation_p.A487V|TLE3_ENST00000440567.3_Missense_Mutation_p.A467V|TLE3_ENST00000442299.2_Missense_Mutation_p.A469V|TLE3_ENST00000560589.1_Missense_Mutation_p.A421V	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	477					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCTGCCGGGCGTGCCTCGG	0.642																																						uc002asl.2																			0		p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1429-1431)gCc>gTc		Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.							59	66	64					15																	70347545		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347545G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1430C>T	15.37:g.70347545G>A	ENSP00000452871:p.Ala477Val					TLE3_uc002ask.2_Missense_Mutation_p.A404V|TLE3_uc010ukd.1_Missense_Mutation_p.A467V|TLE3_uc010bil.1_Missense_Mutation_p.A474V|TLE3_uc002asn.2_Missense_Mutation_p.A465V|TLE3_uc002asm.2_Missense_Mutation_p.A477V|TLE3_uc002asp.2_Missense_Mutation_p.A469V|TLE3_uc002aso.2_Missense_Mutation_p.A472V	p.A477V	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN			13	1731	-			477					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1430C>T	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802408	0.90538	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.54	4.54	0.55810	WD40 repeat-like-containing domain (1);	0.179933	0.48286	D	0.000195	T	0.32466	0.0830	M	0.76838	2.35	0.80722	D	1	D;P;P;D;D;D;D;P	0.69078	0.996;0.885;0.913;0.997;0.996;0.991;0.996;0.671	P;B;B;P;D;P;P;B	0.64144	0.897;0.318;0.359;0.791;0.922;0.701;0.84;0.191	T	0.11542	-1.0583	10	0.66056	D	0.02	-19.861	16.2284	0.82315	0.0:0.0:1.0:0.0	.	467;474;469;472;465;477;477;404	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	V	469;474;477;467;404;144	ENSP00000390007:A469V;ENSP00000394717:A474V;ENSP00000415057:A467V;ENSP00000442594:A404V	ENSP00000319233:A477V	A	-	2	0	TLE3	68134599	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.530000	0.98051	2.352000	0.79861	0.462000	0.41574	GCC		0.642	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		A	70347545	G	A	70347545	3	1	238	1	0	0	0	0	1	0	0	0	15937	1203	42	3	912	3	TLE3	15	70347545	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	6377420	70347545	32183847	81	16877											
NOD2	64127	broad.mit.edu	37	chr16	50763750	50763750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccaataactgcatcacCtacctaggggcagaagccct	11	9	8	13	0	1	1	1	0	0	1	2	1	2	1	4	2	4	2	4	2	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:50763750C>T	ENST00000300589.2	+	11	3093	c.2988C>T	c.(2986-2988)acC>acT	p.T996T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	996					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTGCATCACCTACCTAGGGG	0.502																																						uc002egm.1																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2986-2988)acC>acT		Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.							119	120	120					16																	50763750		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50763750C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2988C>T	16.37:g.50763750C>T						NOD2_uc010vgq.1_Silent_p.T41T	p.T996T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			10	3093	+		all_cancers(37;0.0156)	996					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2988C>T	CCDS10746.1																																																																																				0.502	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50763750	C	T	50763750	2	4	238	1	0	0	0	0	0	0	0	1	10517	668	24	3		3	NOD2	16	50763750	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08		50763750	39591003	82	16878											
KLHL36	79786	broad.mit.edu	37	chr16	84691222	84691222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagggcttcatcgaggaggCcgtgcgctaccacaacaacc	10	5	12	14	4	1	0	1	0	0	0	2	3	1	1	3	3	4	2	3	3	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:84691222C>A	ENST00000564996.1	+	3	950	c.809C>A	c.(808-810)gCc>gAc	p.A270D	KLHL36_ENST00000258157.5_Missense_Mutation_p.A270D	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	270					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGAGGAGGCCGTGCGCTAC	0.677																																						uc002fig.3																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(808-810)gCc>gAc		Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.							32	29	30					16																	84691222		2197	4298	6495	SO:0001583	missense	79786							g.chr16:84691222C>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.809C>A	16.37:g.84691222C>A	ENSP00000456743:p.Ala270Asp					KLHL36_uc010chl.3_Missense_Mutation_p.A269D	p.A270D	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN			2	950	+			270					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.809C>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284215	0.80803	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.80566	-1.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	D	0.92404	0.5932	10	0.87932	D	0	.	18.4088	0.90543	0.0:1.0:0.0:0.0	.	270;270	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	D	270	ENSP00000258157:A270D	ENSP00000258157:A270D	A	+	2	0	KLHL36	83248723	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.644000	0.83416	2.582000	0.87167	0.563000	0.77884	GCC		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			A	84691222	C	A	84691222	3	1	238	1	0	0	0	0	1	0	0	0	8389	739	26	5	815	5	KLHL36	16	84691222	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	33927472	84691222	5663531	83	16879											
ZC3H18	124245	broad.mit.edu	37	chr16	88643657	88643657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggatttggacggggcgggGgtgagggcttctgatctgga	6	9	20	6	2	2	2	0	2	2	0	2	5	2	5	0	8	0	1	0	8	0	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:88643657G>A	ENST00000301011.5	+	2	326	c.126G>A	c.(124-126)ggG>ggA	p.G42G	ZC3H18_ENST00000452588.2_Silent_p.G42G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	42						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACGGGGCGGGGGTGAGGGCTT	0.612																																					Ovarian(121;375 2276 20373 38669)	uc010voz.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(124-126)ggG>ggA		Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.							28	30	29					16																	88643657		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643657G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.126G>A	16.37:g.88643657G>A						ZC3H18_uc021tmm.1_Silent_p.G42G|ZC3H18_uc010voy.1_Silent_p.G42G|ZC3H18_uc002fky.3_Silent_p.G42G|ZC3H18_uc010vpa.1_Silent_p.G42G	p.G42G	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	1	326	+			42					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.126G>A	CCDS10967.1																																																																																				0.612	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		A	88643657	G	A	88643657	2	1	238	1	0	0	0	0	0	0	0	1	17565	1219	43	3		3	ZC3H18	16	88643657	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	3952435	88643657	1711096	84	16880											
NLRP1	22861	broad.mit.edu	37	chr17	5461860	5461860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcgtacaagcagtggAgggactccagagagtgtggc	10	7	16	8	1	1	1	0	0	1	1	3	5	2	3	1	3	2	2	1	3	2	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:5461860A>G	ENST00000572272.1	-	4	2155	c.2156T>C	c.(2155-2157)cTc>cCc	p.L719P	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.L719P|NLRP1_ENST00000269280.4_Missense_Mutation_p.L719P|NLRP1_ENST00000262467.5_Missense_Mutation_p.L719P|NLRP1_ENST00000345221.3_Missense_Mutation_p.L719P|NLRP1_ENST00000577119.1_Missense_Mutation_p.L719P			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	719					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAAGCAGTGGAGGGACTCCAG	0.537																																						uc002gci.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2155-2157)cTc>cCc		Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.							67	67	67					17																	5461860		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461860A>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2156T>C	17.37:g.5461860A>G	ENSP00000460475:p.Leu719Pro					NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gch.4_Missense_Mutation_p.L719P|NLRP1_uc002gck.3_Missense_Mutation_p.L719P|NLRP1_uc002gcj.3_Missense_Mutation_p.L719P|NLRP1_uc002gcl.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.3_Missense_Mutation_p.L719P	p.L719P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			3	2711	-		Colorectal(1115;3.48e-05)	719					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2156T>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814958	0.50527	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.02	4.02	0.46733	.	0.689206	0.12024	N	0.506628	T	0.70064	0.3181	M	0.76574	2.34	0.19945	N	0.999944	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.77004	0.989;0.989;0.962;0.989;0.987	T	0.57957	-0.7721	10	0.87932	D	0	.	9.6835	0.40085	1.0:0.0:0.0:0.0	.	719;719;719;719;719	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	P	719	ENSP00000442029:L719P;ENSP00000262467:L719P;ENSP00000269280:L719P;ENSP00000346390:L719P;ENSP00000324366:L719P	ENSP00000262467:L719P	L	-	2	0	NLRP1	5402584	0.306000	0.24490	0.007000	0.13788	0.032000	0.12392	2.892000	0.48625	2.066000	0.61787	0.529000	0.55759	CTC		0.537	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		G	5461860	A	G	5461860	3	3	238	1	0	0	0	0	1	0	0	0	10471	304	11	4	2396	4	NLRP1	17	5461860	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08		5461860	75733350	85	16881											
DNAH2	146754	broad.mit.edu	37	chr17	7643075	7643075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgtcagtatcacttcGcccgctgggaagatggcaag	9	9	13	10	2	2	2	2	1	0	1	3	3	2	3	1	2	0	3	1	2	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:7643075G>A	ENST00000572933.1	+	9	2655	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A399T|DNAH2_ENST00000570791.1_Missense_Mutation_p.A481T|DNAH2_ENST00000082259.3_Missense_Mutation_p.A481T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	399	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTATCACTTCGCCCGCTGGGA	0.488																																						uc002giu.1																			0		p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1195-1197)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							71	64	67					17																	7643075		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643075G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1195G>A	17.37:g.7643075G>A	ENSP00000458355:p.Ala399Thr					DNAH2_uc002git.3_Missense_Mutation_p.A481T|DNAH2_uc010vuk.2_Missense_Mutation_p.A399T	p.A399T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			7	1209	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	399			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1195G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125203	0.94429	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55413	1.84;0.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.40543	1.245	0.42155	D	0.991578	D;D	0.89917	1.0;0.986	D;P	0.74348	0.983;0.889	T	0.61148	-0.7121	10	0.37606	T	0.19	.	17.6301	0.88104	0.0:0.0:1.0:0.0	.	399;481	Q9P225;Q9P225-3	DYH2_HUMAN;.	T	399;399;481	ENSP00000373825:A399T;ENSP00000082259:A481T	ENSP00000082259:A481T	A	+	1	0	DNAH2	7583800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.209000	0.89751	2.779000	0.95612	0.650000	0.86243	GCC		0.488	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7643075	G	A	7643075	3	1	238	1	0	0	0	0	1	0	0	0	4602	1087	38	1	1225	1	DNAH2	17	7643075	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2181215	7643075	73552135	86	16882											
TP53I13	90313	broad.mit.edu	37	chr17	27899699	27899699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggggcccacagcggacagCcaggacacagtggctggtga	9	4	17	11	1	0	1	0	1	0	0	0	3	0	3	2	6	2	1	2	6	0	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:27899699C>T	ENST00000301057.7	+	6	1168	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	RP11-68I3.4_ENST00000579050.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	351						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CAGCGGACAGCCAGGACACAG	0.701																																						uc002hee.3																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(1051-1053)agC>agT		Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.							6	7	7					17																	27899699		2035	4164	6199	SO:0001819	synonymous_variant	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899699C>T	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.1053C>T	17.37:g.27899699C>T							p.S351S	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	5	1091	+			351					Q7L5U3	Silent	SNP	ENST00000301057.7	37	c.1053C>T	CCDS42289.1																																																																																				0.701	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		T	27899699	C	T	27899699	2	4	238	1	0	0	0	0	0	0	0	1	16383	738	26	3		3	TP53I13	17	27899699	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	20256624	27899699	53295511	87	16883											
RHBDL3	162494	broad.mit.edu	37	chr17	30611787	30611787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggtcctcctggctcttgCcgacagccacgcggatgggc	5	7	15	14	3	1	0	0	0	1	0	3	3	3	2	4	5	2	1	4	5	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30611787C>T	ENST00000269051.4	+	3	259	c.245C>T	c.(244-246)gCc>gTc	p.A82V	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A74V|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGGCTCTTGCCGACAGCCAC	0.592																																						uc010csx.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(244-246)gCc>gTc		Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.							62	62	62					17																	30611787		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30611787C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.245C>T	17.37:g.30611787C>T	ENSP00000269051:p.Ala82Val					RHBDL3_uc002hhe.1_Missense_Mutation_p.A82V|RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron	p.A82V			P58872	RHBL3_HUMAN			2	259	+		Breast(31;0.116)|Ovarian(249;0.182)	82			EF-hand 2.		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.245C>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393901	0.62066	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145	T;T;T	0.70986	-0.53;-0.53;0.95	4.68	4.68	0.58851	EF-hand-like domain (1);	0.062566	0.64402	D	0.000006	T	0.72220	0.3433	N	0.16166	0.38	0.80722	D	1	D;B;B	0.67145	0.996;0.028;0.059	D;B;B	0.67725	0.953;0.028;0.101	T	0.76429	-0.2962	10	0.49607	T	0.09	-26.8572	17.8226	0.88654	0.0:1.0:0.0:0.0	.	82;74;82	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	V	82;82;74	ENSP00000394849:A82V;ENSP00000269051:A82V;ENSP00000442092:A74V	ENSP00000269051:A82V	A	+	2	0	RHBDL3	27635900	1.000000	0.71417	0.382000	0.26119	0.755000	0.42902	6.750000	0.74888	2.423000	0.82170	0.563000	0.77884	GCC		0.592	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		T	30611787	C	T	30611787	3	4	238	1	0	0	0	0	1	0	0	0	13323	739	26	3	255	3	RHBDL3	17	30611787	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	2712088	30611787	50583423	88	16884											
ZNF207	7756	broad.mit.edu	37	chr17	30685561	30685561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccgtaccaaatgcaataCctggaagaacagacatagag	17	6	9	9	1	0	3	0	0	0	3	0	4	0	4	3	1	5	2	3	1	7	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30685561C>T	ENST00000321233.6	+	3	362	c.208C>T	c.(208-210)Cct>Tct	p.P70S	ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000394673.2_Missense_Mutation_p.P70S|ZNF207_ENST00000577908.1_Missense_Mutation_p.P70S|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.P70S|ZNF207_ENST00000342555.6_Missense_Mutation_p.P73S	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	70	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AAATGCAATACCTGGAAGAAC	0.333																																						uc010csz.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(217-219)Cct>Tct		Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.							86	89	88					17																	30685561		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30685561C>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.208C>T	17.37:g.30685561C>T	ENSP00000322777:p.Pro70Ser					ZNF207_uc002hhj.4_Missense_Mutation_p.P70S|ZNF207_uc002hhh.4_Missense_Mutation_p.P70S|ZNF207_uc002hhi.4_Missense_Mutation_p.P70S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank	p.P73S			O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	564	+		Breast(31;0.116)|Ovarian(249;0.182)	70					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.217C>T	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000148	0.54147	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.58940	0.3;0.3;0.3	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.79926	2.475	0.80722	D	1	P;P;P;P;P	0.48503	0.911;0.911;0.911;0.911;0.911	P;P;P;P;P	0.45558	0.485;0.485;0.485;0.485;0.485	T	0.74968	-0.3483	10	0.72032	D	0.01	.	18.5395	0.91022	0.0:1.0:0.0:0.0	.	70;73;70;70;70	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	S	70;70;73;70;70	ENSP00000378165:P70S;ENSP00000378168:P70S;ENSP00000322777:P70S	ENSP00000322777:P70S	P	+	1	0	ZNF207	27709674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.476000	0.81055	2.469000	0.83416	0.650000	0.86243	CCT		0.333	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			T	30685561	C	T	30685561	3	4	238	1	0	0	0	0	1	0	0	0	17762	507	18	3	218	3	ZNF207	17	30685561	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	73774	30685561	50509649	89	16885											
KRT9	3857	broad.mit.edu	37	chr17	39725742	39725742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgctcatactcctgaCgcatgtcattgagggtcttg	7	13	11	10	1	3	3	2	3	1	0	4	3	4	3	1	1	3	3	1	1	1	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39725742C>T	ENST00000246662.4	-	4	1045	c.980G>A	c.(979-981)cGt>cAt	p.R327H	KRT9_ENST00000588431.1_Missense_Mutation_p.R94H	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	327	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R327H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATACTCCTGACGCATGTCATT	0.502																																						uc002hxe.4																			1	Substitution - Missense(1)	p.R327H(2)	endometrium(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(979-981)cGt>cAt		Homo sapiens keratin 9 (KRT9), mRNA.							218	176	190					17																	39725742		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725742C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.980G>A	17.37:g.39725742C>T	ENSP00000246662:p.Arg327His					JUP_uc010wfs.2_Intron	p.R327H	NM_000226	NP_000217	P35527	K1C9_HUMAN			3	1046	-		Breast(137;0.000307)	327			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.980G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670318	0.47677	.	.	ENSG00000171403	ENST00000246662	D	0.93307	-3.2	4.25	2.21	0.28008	Filament (1);	.	.	.	.	D	0.94361	0.8187	H	0.94734	3.575	0.29718	N	0.838901	P	0.49090	0.919	B	0.40901	0.343	D	0.90168	0.4233	9	0.87932	D	0	.	10.4866	0.44726	0.0:0.8367:0.0:0.1633	.	327	P35527	K1C9_HUMAN	H	327	ENSP00000246662:R327H	ENSP00000246662:R327H	R	-	2	0	KRT9	36979268	0.997000	0.39634	0.274000	0.24659	0.222000	0.24845	3.645000	0.54389	0.245000	0.21373	-0.224000	0.12420	CGT		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		T	39725742	C	T	39725742	3	4	238	1	0	0	0	0	1	0	0	0	8501	536	19	1	907	1	KRT9	17	39725742	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	9040181	39725742	41469468	90	16886											
ACLY	47	broad.mit.edu	37	chr17	40065323	40065323	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaaactggccagaattcTagaggtgggagggagagagg	14	6	17	4	0	1	3	0	0	1	3	1	7	1	5	1	5	1	0	1	5	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:40065323T>G	ENST00000352035.2	-	6	667		c.e6-2		ACLY_ENST00000353196.1_Splice_Site|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000590151.1_Splice_Site	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase						ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCAGAATTCTAGAGGTGGGA	0.562																																					Colon(64;807 1396 15971 30971)	uc002hyg.3																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e6-1		Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.							47	54	52					17																	40065323		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40065323T>G	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.537-2A>C	17.37:g.40065323T>G						ACLY_uc002hyh.3_Splice_Site_p.E179_splice|ACLY_uc002hyi.3_Splice_Site_p.E233_splice|ACLY_uc010wfx.2_Splice_Site_p.E233_splice|ACLY_uc010wfy.2_Intron	p.E179_splice	NM_001096	NP_001087	P53396	ACLY_HUMAN			6	700	-		Breast(137;0.000143)	179					B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.537_splice	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794960	0.70452	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.007	0.80370	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACLY	37318849	1.000000	0.71417	0.992000	0.48379	0.597000	0.36814	7.823000	0.86660	2.180000	0.69256	0.460000	0.39030	.		0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Intron	G	40065323	T	G	40065323	5	3	238	1	0	0	0	0	0	0	1	0	143	1536	53	5	2866	5	ACLY	17	40065323	Splice_Site	SNP	T	TCGA-32-4211-01A-01D-1353-08	339581	40065323	41129887	91	16887											
SMCHD1	23347	broad.mit.edu	37	chr18	2752502	2752502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggcagaaacatttagttGtaataaaataaaagataatg	20	11	7	3	0	0	2	0	0	0	2	0	2	0	2	0	1	1	3	0	1	9	8			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:2752502G>A	ENST00000320876.6	+	34	4636	c.4298G>A	c.(4297-4299)tGt>tAt	p.C1433Y	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.C1433Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1433					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATTTAGTTGTAATAAAATA	0.303																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4297-4299)tGt>tAt		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							57	58	58					18																	2752502		1800	4055	5855	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2752502G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4298G>A	18.37:g.2752502G>A	ENSP00000326603:p.Cys1433Tyr					SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	p.C1433Y	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			33	4487	+			1433					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4298G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051556	0.75960	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27256	1.68;1.68	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.67953	2.075	0.42593	D	0.993254	D	0.65815	0.995	D	0.75484	0.986	T	0.51834	-0.8655	10	0.87932	D	0	-12.2587	16.8641	0.86025	0.0:0.0:1.0:0.0	.	1433	A6NHR9	SMHD1_HUMAN	Y	1433	ENSP00000326603:C1433Y;ENSP00000261598:C1433Y	ENSP00000261598:C1433Y	C	+	2	0	SMCHD1	2742502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.090000	0.71397	2.648000	0.89879	0.591000	0.81541	TGT		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2752502	G	A	2752502	3	1	238	1	0	0	0	0	1	0	0	0	14788	1377	48	3	4432	3	SMCHD1	18	2752502	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		2752502	75324746	92	16888											
LAMA1	284217	broad.mit.edu	37	chr18	7036079	7036079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcaggaatccgccaaaCgcagtcagctgaaatgttta	13	11	8	9	2	2	1	2	1	0	0	3	2	3	2	2	1	2	3	2	1	5	4	rs368609998		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:7036079C>T	ENST00000389658.3	-	13	1839	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	582	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCCGCCAAACGCAGTCAGCT	0.463																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1744-1746)gcG>gcA		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		0,4406		0,0,2203	131	99	110		1746	-11.4	0	18		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		582/3076	7036079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7036079C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1746G>A	18.37:g.7036079C>T						LAMA1_uc010wzj.2_Silent_p.A58A	p.A582A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			12	1840	-		Colorectal(10;0.172)	582			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.1746G>A	CCDS32787.1																																																																																				0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7036079	C	T	7036079	2	4	238	1	0	0	0	0	0	0	0	1	8605	523	19	1		1	LAMA1	18	7036079	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	4283577	7036079	71041169	93	16889											
PTBP1	5725	broad.mit.edu	37	chr19	804908	804908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccctgctgcagtatgCggaccccgtgagcgcccagc	6	5	13	17	3	0	1	0	1	0	0	0	2	0	2	5	2	5	3	5	2	1	1	rs201221864		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:804908C>T	ENST00000349038.4	+	7	759	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662																																						uc002lpr.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(685-687)gCg>gTg		Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.		C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82	77	79		686,686,686,	3.1	0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804908C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.686C>T	19.37:g.804908C>T	ENSP00000014112:p.Ala229Val					PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|MIR4745_uc021uly.1_5'Flank	p.A229V	NM_031991	NP_114368	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	792	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	229			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.686C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			T	804908	C	T	804908	3	4	238	1	0	0	0	0	1	0	0	0	12725	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		804908	58324075	94	16890											
SBNO2	22904	broad.mit.edu	37	chr19	1119057	1119057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgaaggctggggccagcgGgatctcctcgatgcggaagg	7	6	17	11	4	1	0	0	0	1	0	4	4	1	2	2	6	2	1	2	6	2	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:1119057G>A	ENST00000361757.3	-	14	1717	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	SBNO2_ENST00000438103.2_Missense_Mutation_p.P437S|SBNO2_ENST00000587024.1_Missense_Mutation_p.P494S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	494					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCCAGCGGGATCTCCTCG	0.657																																						uc002lrk.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1480-1482)Ccg>Tcg		Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.							30	40	36					19																	1119057		2190	4281	6471	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119057G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1480C>T	19.37:g.1119057G>A	ENSP00000354733:p.Pro494Ser					SBNO2_uc002lrj.4_Missense_Mutation_p.P437S|SBNO2_uc010dse.3_Missense_Mutation_p.P487S|SBNO2_uc010dsf.3_Missense_Mutation_p.P437S	p.P494S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1718	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	494					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.1480C>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670885	0.29693	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	2.81	0.32909	.	0.309084	0.35585	N	0.003117	T	0.52709	0.1751	L	0.58101	1.795	0.39345	D	0.96564	B;P;P	0.40681	0.05;0.727;0.68	B;B;B	0.39935	0.101;0.314;0.209	T	0.56171	-0.8023	9	0.38643	T	0.18	-26.9125	12.5597	0.56273	0.0:0.1692:0.8308:0.0	.	494;494;437	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	S	494;437;518	.	ENSP00000250872:P518S	P	-	1	0	SBNO2	1070057	1.000000	0.71417	0.997000	0.53966	0.531000	0.34715	4.590000	0.61013	0.928000	0.37168	0.462000	0.41574	CCG		0.657	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1119057	G	A	1119057	3	1	238	1	0	0	0	0	1	0	0	0	13863	1232	43	3	2696	3	SBNO2	19	1119057	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	314149	1119057	58009926	95	16891											
TLE2	7089	broad.mit.edu	37	chr19	3013710	3013710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcggtgagccaaggctaGaggccaaggaggctggactg	10	4	18	9	1	0	2	0	1	0	1	0	4	0	4	2	6	2	3	2	6	3	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:3013710G>A	ENST00000262953.6	-	11	1092	c.830C>T	c.(829-831)tCt>tTt	p.S277F	TLE2_ENST00000426948.2_Missense_Mutation_p.S291F|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000443826.3_Missense_Mutation_p.S155F|TLE2_ENST00000591529.1_Missense_Mutation_p.S291F|TLE2_ENST00000590536.1_Missense_Mutation_p.S278F|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Missense_Mutation_p.S155F	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	277	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAAGGCTAGAGGCCAAGGA	0.642																																						uc010dth.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(832-834)tCt>tTt		Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.							31	32	32					19																	3013710		1944	4127	6071	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3013710G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.830C>T	19.37:g.3013710G>A	ENSP00000262953:p.Ser277Phe					TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.S277F|TLE2_uc010xhc.2_Missense_Mutation_p.S155F|TLE2_uc010dti.3_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	p.S278F	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1096	-			277			Pro/Ser-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.833C>T	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700706	0.48307	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T	0.59638	0.35;0.25;0.25;0.56	4.62	4.62	0.57501	.	0.257886	0.39615	N	0.001316	T	0.74084	0.3670	M	0.76170	2.325	0.43334	D	0.995371	D;D;P;D;D	0.71674	0.998;0.995;0.796;0.995;0.995	D;D;P;D;D	0.80764	0.994;0.986;0.615;0.986;0.986	T	0.77653	-0.2507	10	0.87932	D	0	-20.9635	13.1534	0.59503	0.0:0.1618:0.8382:0.0	.	185;155;291;155;277	B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	F	277;155;271;155;291;185	ENSP00000262953:S277F;ENSP00000413107:S155F;ENSP00000392427:S155F;ENSP00000392869:S291F	ENSP00000262953:S277F	S	-	2	0	TLE2	2964710	1.000000	0.71417	0.995000	0.50966	0.140000	0.21249	7.334000	0.79224	2.292000	0.77174	0.549000	0.68633	TCT		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		A	3013710	G	A	3013710	3	1	238	1	0	0	0	0	1	0	0	0	15936	942	33	3	1441	3	TLE2	19	3013710	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1894653	3013710	56115273	96	16892											
MUC16	94025	broad.mit.edu	37	chr19	8997446	8997446	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctccgtggtgttgaacTtcctggagccagggtgctgc	4	11	13	13	1	1	1	0	1	1	0	3	2	2	2	4	3	4	2	4	3	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:8997446T>G	ENST00000397910.4	-	59	41179	c.40976A>C	c.(40975-40977)aAg>aCg	p.K13659T	MUC16_ENST00000380951.5_Missense_Mutation_p.K300T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13661	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTTGAACTTCCTGGAGCC	0.567																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40975-40977)aAg>aCg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							177	141	153					19																	8997446		1979	4151	6130	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997446T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40976A>C	19.37:g.8997446T>G	ENSP00000381008:p.Lys13659Thr					MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.K476T|MUC16_uc021uog.1_Non-coding_Transcript	p.K13659T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			58	41180	-			13661	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40976A>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.64|11.64	1.699104|1.699104	0.30142|0.30142	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.28895|.	1.59;1.59|.	2.86|2.86	-0.726|-0.726	0.11170|0.11170	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.50292|0.50292	0.1607|0.1607	M|M	0.77103|0.77103	2.36|2.36	.|.	.|.	.|.	B;D|.	0.53745|.	0.43;0.962|.	B;D|.	0.66716|.	0.359;0.946|.	T|T	0.54337|0.54337	-0.8309|-0.8309	8|4	0.49607|.	T|.	0.09|.	-2.2599|-2.2599	3.5788|3.5788	0.07945|0.07945	0.3968:0.0:0.204:0.3992|0.3968:0.0:0.204:0.3992	.|.	21304;13659|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	T|R	13659;300|499	ENSP00000381008:K13659T;ENSP00000370338:K300T|.	ENSP00000370338:K300T|.	K|S	-|-	2|1	0|0	MUC16|MUC16	8858446|8858446	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.114000|0.114000	0.15520|0.15520	-0.257000|-0.257000	0.09459|0.09459	-0.509000|-0.509000	0.04479|0.04479	AAG|AGT		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	8997446	T	G	8997446	3	3	238	1	0	0	0	0	1	0	0	0	9973	1609	56	5	2651	5	MUC16	19	8997446	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	5983736	8997446	50131537	97	16893											
ZNF527	84503	broad.mit.edu	37	chr19	37880558	37880558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatgtggaaaggccttcaGttgtggctcatatcttaatc	11	13	9	8	0	3	0	2	0	1	0	4	1	3	1	1	3	0	2	1	3	4	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:37880558G>A	ENST00000436120.2	+	5	1714	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTTCAGTTGTGGCTCA	0.398																																						uc010efk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(1606-1608)aGt>aAt		Homo sapiens zinc finger protein 527 (ZNF527), mRNA.							74	81	79					19																	37880558		2197	4299	6496	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880558G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1607G>A	19.37:g.37880558G>A	ENSP00000390179:p.Ser536Asn					ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_Non-coding_Transcript	p.S536N	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1718	+			536					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1607G>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331029	0.41297	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001204	T	0.38558	0.1045	L	0.58925	1.835	0.34485	D	0.704351	B;B	0.29481	0.167;0.245	B;B	0.22601	0.037;0.04	T	0.31916	-0.9926	9	0.29301	T	0.29	.	3.2646	0.06860	0.0984:0.1759:0.5442:0.1815	.	536;504	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	N	536;504;484	.	ENSP00000325231:S504N	S	+	2	0	ZNF527	42572398	0.000000	0.05858	0.561000	0.28357	0.989000	0.77384	-1.091000	0.03369	0.270000	0.21984	0.655000	0.94253	AGT		0.398	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		A	37880558	G	A	37880558	3	1	238	1	0	0	0	0	1	0	0	0	17965	1029	36	3	1621	3	ZNF527	19	37880558	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	28883112	37880558	21248425	98	16894											
ZNF229	7772	broad.mit.edu	37	chr19	44933459	44933459	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggtacgagttgtgActgaaacctttgccacactt	10	12	10	9	1	0	3	0	3	0	0	0	4	0	3	2	1	3	3	2	1	3	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:44933459A>G	ENST00000588931.1	-	6	1930	c.1497T>C	c.(1495-1497)agT>agC	p.S499S	ZNF229_ENST00000291187.4_Silent_p.S493S|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGAGTTGTGACTGAAACCTT	0.517																																						uc002oze.1																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1495-1497)agT>agC		Homo sapiens zinc finger protein 229 (ZNF229), mRNA.							140	147	144					19																	44933459		2128	4249	6377	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933459A>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1497T>C	19.37:g.44933459A>G						ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	p.S499S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	1931	-		Prostate(69;0.0352)	499					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1497T>C	CCDS42574.1																																																																																				0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		G	44933459	A	G	44933459	2	3	238	1	0	0	0	0	0	0	0	1	17779	272	10	4		4	ZNF229	19	44933459	Silent	SNP	A	TCGA-32-4211-01A-01D-1353-08	7052901	44933459	14195524	99	16895											
ZNF816A	125893	broad.mit.edu	37	chr19	53454033	53454033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaagtctaCgatggcatctaagggatgac	11	11	10	9	1	3	2	0	2	3	0	5	4	4	3	1	2	1	2	1	2	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:53454033C>T	ENST00000357666.4	-	5	1295	c.995G>A	c.(994-996)cGt>cAt	p.R332H	ZNF816_ENST00000444460.2_Missense_Mutation_p.R332H|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATGAAGTCTACGATGGCATCT	0.423																																						uc002qal.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(994-996)cGt>cAt		Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.							153	160	158					19																	53454033		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454033C>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.995G>A	19.37:g.53454033C>T	ENSP00000350295:p.Arg332His					ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.R332H|ZNF816_uc002qam.2_Missense_Mutation_p.R332H	p.R332H	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN			4	1346	-			332					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.995G>A	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	6.749	0.506992	0.12883	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.18502	2.21;2.21	1.79	0.0192	0.14120	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	L	0.55481	1.735	0.09310	N	1	P	0.50156	0.932	P	0.49637	0.617	T	0.12167	-1.0558	9	0.37606	T	0.19	.	3.0267	0.06094	0.2278:0.4563:0.0:0.3159	.	332	Q0VGE8	ZN816_HUMAN	H	332	ENSP00000350295:R332H;ENSP00000403266:R332H	ENSP00000350295:R332H	R	-	2	0	ZNF816	58145845	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.263000	0.02850	-0.226000	0.09899	0.205000	0.17691	CGT		0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		T	53454033	C	T	53454033	3	4	238	1	0	0	0	0	1	0	0	0	18174	536	19	1	964	1	ZNF816A	19	53454033	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	8520574	53454033	5674950	100	16896											
PRIC285	85441	broad.mit.edu	37	chr20	62198405	62198405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggtggggcggaaccttgCccctggcgtggatggggttg	3	8	22	8	2	0	0	0	0	0	0	0	2	0	2	3	9	2	1	3	9	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr20:62198405C>T	ENST00000467148.1	-	6	2375	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	HELZ2_ENST00000427522.2_Missense_Mutation_p.G200D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	769	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGGAACCTTGCCCCTGGCGTG	0.652																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(2305-2307)gGc>gAc		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							64	60	61					20																	62198405		2203	4300	6503	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198405C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2306G>A	20.37:g.62198405C>T	ENSP00000417401:p.Gly769Asp					PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	p.G769D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	3198	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		769					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2306G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269265	0.59540	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92099	-2.97;-2.97	5.32	5.32	0.75619	.	0.183801	0.48286	D	0.000188	D	0.95639	0.8582	M	0.76727	2.345	0.46167	D	0.998909	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.93842	0.7137	10	0.22706	T	0.39	-46.9544	18.9883	0.92780	0.0:1.0:0.0:0.0	.	769;200	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	D	200;769	ENSP00000393257:G200D;ENSP00000417401:G769D	ENSP00000393257:G200D	G	-	2	0	RP4-697K14.7	61668849	1.000000	0.71417	0.961000	0.40146	0.013000	0.08279	3.441000	0.52893	2.502000	0.84385	0.561000	0.74099	GGC		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62198405	C	T	62198405	3	4	238	1	0	0	0	0	1	0	0	0	12485	739	26	3	5699	3	PRIC285	20	62198405	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		62198405	827115	101	16897											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactactatggtggtctgcGttatggctatggagtcctgg	7	13	13	8	1	1	0	0	0	1	0	2	1	2	1	1	5	3	2	1	5	5	4	rs551484598	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:32007617G>A	ENST00000330798.2	+	1	63	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522													G|||	3	0.000599042	0	0.0014	5008	,	,		17636	0		0	False		,,,				2504	0.002					uc011adg.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(34-36)cGt>cAt		Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.							191	156	168					21																	32007617		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007617G>A	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.35G>A	21.37:g.32007617G>A	ENSP00000330746:p.Arg12His						p.R12H	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			0	35	+			12						Missense_Mutation	SNP	ENST00000330798.2	37	c.35G>A	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127897	0.20959	.	.	ENSG00000184032	ENST00000330798	T	0.09630	2.96	3.45	3.45	0.39498	.	0.000000	0.40908	U	0.000993	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.35770	0.21	T	0.30179	-0.9987	9	0.87932	D	0	.	10.6113	0.45423	0.0:0.0:1.0:0.0	.	12	Q3LI61	KR202_HUMAN	H	12	ENSP00000330746:R12H	ENSP00000330746:R12H	R	+	2	0	KRTAP20-2	30929488	0.000000	0.05858	0.009000	0.14445	0.016000	0.09150	0.136000	0.15974	1.940000	0.56252	0.655000	0.94253	CGT		0.522	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			A	32007617	G	A	32007617	3	1	238	1	0	0	0	0	1	0	0	0	8537	1145	40	1	37	1	KRTAP20-2	21	32007617	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		32007617	16122278	102	16898											
ICOSLG	23308	broad.mit.edu	37	chr21	45657002	45657002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggtttgccaatataCgtaaacatcatttaaatcaa	15	13	4	9	1	3	0	3	0	0	0	3	0	3	0	1	1	3	2	1	1	8	6			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45657002C>T	ENST00000407780.3	-	3	281	c.154G>A	c.(154-156)Gta>Ata	p.V52I	ICOSLG_ENST00000344330.4_Missense_Mutation_p.V52I|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V52I	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	52	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCAATATACGTAAACATCA	0.522																																						uc010gpp.1																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(154-156)Gta>Ata		Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.							91	105	100					21																	45657002		2112	4229	6341	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45657002C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.154G>A	21.37:g.45657002C>T	ENSP00000384432:p.Val52Ile					ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.V52I|ICOSLG_uc011afc.2_Intron	p.V52I	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	2	288	-			52			Ig-like V-type.		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.154G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828831	0.50845	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.64618	-0.11;-0.11;-0.11	5.01	4.02	0.46733	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140516	0.32258	N	0.006349	T	0.60560	0.2278	L	0.49126	1.545	0.32064	N	0.595341	D;D	0.56746	0.977;0.977	P;P	0.50270	0.636;0.636	T	0.65290	-0.6204	10	0.27785	T	0.31	-19.6433	9.7457	0.40446	0.0:0.8913:0.0:0.1087	.	52;52	A0N0L8;O75144	.;ICOSL_HUMAN	I	52	ENSP00000339477:V52I;ENSP00000384432:V52I;ENSP00000383230:V52I	ENSP00000339477:V52I	V	-	1	0	ICOSLG	44481430	0.170000	0.23016	0.019000	0.16419	0.007000	0.05969	1.262000	0.32992	1.266000	0.44231	0.655000	0.94253	GTA		0.522	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		T	45657002	C	T	45657002	3	4	238	1	0	0	0	0	1	0	0	0	7487	536	19	1	774	1	ICOSLG	21	45657002	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	13649385	45657002	2472893	103	16899											
C21orf29	54084	broad.mit.edu	37	chr21	45945664	45945664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtggctccatttgtaaAtgacagagaactcctgaccc	10	12	8	11	0	1	3	0	2	1	1	3	4	3	3	3	1	1	2	3	1	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45945664A>G	ENST00000323084.4	-	8	1273	c.1208T>C	c.(1207-1209)aTt>aCt	p.I403T	TSPEAR_ENST00000397916.1_Missense_Mutation_p.I335T|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	403					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCATTTGTAAATGACAGAGAA	0.522																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1207-1209)aTt>aCt		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.							181	182	182					21																	45945664		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45945664A>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1208T>C	21.37:g.45945664A>G	ENSP00000321987:p.Ile403Thr					TSPEAR_uc010gpv.1_Missense_Mutation_p.I335T	p.I403T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			7	1274	-			403						Missense_Mutation	SNP	ENST00000323084.4	37	c.1208T>C	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129495	0.77549	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	D;D	0.86497	-2.13;-2.13	4.46	4.46	0.54185	.	0.049501	0.85682	D	0.000000	D	0.92818	0.7716	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.93778	0.7081	10	0.87932	D	0	-12.4328	14.0529	0.64749	1.0:0.0:0.0:0.0	.	403	Q8WU66	TSEAR_HUMAN	T	403;256;335;404	ENSP00000321987:I403T;ENSP00000381012:I335T	ENSP00000321987:I403T	I	-	2	0	TSPEAR	44770092	1.000000	0.71417	0.984000	0.44739	0.965000	0.64279	8.420000	0.90256	1.787000	0.52448	0.482000	0.46254	ATT		0.522	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		G	45945664	A	G	45945664	3	3	238	1	0	0	0	0	1	0	0	0	2124	101	4	4	821	4	C21orf29	21	45945664	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	288662	45945664	2184231	104	16900											
PCBP3	54039	broad.mit.edu	37	chr21	47355174	47355174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatacccaggtctggaCgccagcccaccggccagcac	8	6	11	16	2	1	0	0	0	1	0	1	1	1	1	5	4	3	2	5	4	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:47355174C>T	ENST00000400314.1	+	14	1202	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_ENST00000449640.1_Silent_p.D288D|PCBP3_ENST00000400304.1_Silent_p.D278D|PCBP3_ENST00000400310.1_Silent_p.D268D|PCBP3_ENST00000400308.1_Silent_p.D262D|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400309.1_Silent_p.D287D			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	288					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577																																						uc010gqb.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(862-864)gaC>gaT		Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.							58	68	65					21																	47355174		2071	4206	6277	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47355174C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.864C>T	21.37:g.47355174C>T						PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	p.D288D	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1127	+	all_hematologic(128;0.24)		288					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.864C>T	CCDS42974.2																																																																																				0.577	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			T	47355174	C	T	47355174	2	4	238	1	0	0	0	0	0	0	0	1	11502	535	19	1		1	PCBP3	21	47355174	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	1409510	47355174	774721	105	16901											
RFPL2	10739	broad.mit.edu	37	chr22	32586778	32586778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttggcctccccaggaCggactggagcatcagtagtg	8	10	12	11	1	1	0	1	0	0	0	2	3	2	3	3	4	1	2	3	4	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32586778C>T	ENST00000400237.1	-	5	2053	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H	RFPL2_ENST00000248983.4_Missense_Mutation_p.R283H|RFPL2_ENST00000248980.4_Missense_Mutation_p.R312H|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.R283H			O75678	RFPL2_HUMAN	ret finger protein-like 2	373							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTCCCCAGGACGGACTGGAGC	0.463																																						uc003amg.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(1117-1119)cGt>cAt		Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.							75	84	81					22																	32586778		2184	4276	6460	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586778C>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1118G>A	22.37:g.32586778C>T	ENSP00000383096:p.Arg373His					RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	p.R373H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN			4	2054	-			373						Missense_Mutation	SNP	ENST00000400237.1	37	c.1118G>A	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	c	0.385	-0.926459	0.02377	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.55588	0.62;0.62;0.62;0.51	0.582	0.582	0.17412	.	.	.	.	.	T	0.15219	0.0367	N	0.00436	-1.5	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.23440	-1.0188	8	0.19590	T	0.45	.	.	.	.	.	373;312	O75678;O75678-3	RFPL2_HUMAN;.	H	312;283;283;373	ENSP00000248980:R312H;ENSP00000248983:R283H;ENSP00000383095:R283H;ENSP00000383096:R373H	ENSP00000248980:R312H	R	-	2	0	RFPL2	30916778	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.484000	0.00980	-0.382000	0.07870	-0.773000	0.03387	CGT		0.463	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		T	32586778	C	T	32586778	3	4	238	1	0	0	0	0	1	0	0	0	13254	536	19	1	22	1	RFPL2	22	32586778	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		32586778	18717788	106	16902											
RFPL3	10738	broad.mit.edu	37	chr22	32756800	32756800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactactgatgctccagtccGtcctggggaggccaaataag	10	8	11	12	1	0	1	0	1	0	0	3	2	3	2	4	3	2	1	4	3	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32756800G>A	ENST00000249007.4	+	2	1140	c.935G>A	c.(934-936)cGt>cAt	p.R312H	RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_Missense_Mutation_p.R80W|RFPL3S_ENST00000382084.4_Missense_Mutation_p.R51W|RFPL3_ENST00000382088.3_Missense_Mutation_p.R283H|RFPL3_ENST00000397468.1_Missense_Mutation_p.R283H	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	312							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCTCCAGTCCGTCCTGGGGAG	0.458																																						uc003amj.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(934-936)cGt>cAt		Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.							50	52	51					22																	32756800		2181	4269	6450	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756800G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.935G>A	22.37:g.32756800G>A	ENSP00000249007:p.Arg312His					RFPL3_uc010gwn.3_Missense_Mutation_p.R283H|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	p.R312H	NM_001098535	NP_006595	O75679	RFPL3_HUMAN			1	1140	+			312					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.935G>A	CCDS43011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.216|0.216	-1.032270|-1.032270	0.02029|0.02029	.|.	.|.	ENSG00000128276|ENSG00000205853	ENST00000397468;ENST00000249007;ENST00000382088|ENST00000382084;ENST00000400234	T;T;T|.	0.52983|.	0.64;0.64;0.64|.	0.704|0.704	-0.595|-0.595	0.11660|0.11660	.|.	.|.	.|.	.|.	.|.	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.00538|0.00538	-1.39|-1.39	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.24440|0.24440	-1.0160|-1.0160	8|5	0.30078|0.87932	T|D	0.28|0	.|.	.|.	.|.	.|.	.|.	312|.	O75679|.	RFPL3_HUMAN|.	H|W	283;312;283|51;80	ENSP00000380609:R283H;ENSP00000249007:R312H;ENSP00000371520:R283H|.	ENSP00000249007:R312H|ENSP00000371516:R51W	R|R	+|-	2|1	0|2	RFPL3|RFPL3-AS1	31086800|31086800	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	-3.444000|-3.444000	0.00469|0.00469	-0.333000|-0.333000	0.08476|0.08476	-1.328000|-1.328000	0.01277|0.01277	CGT|CGG		0.458	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		A	32756800	G	A	32756800	3	1	238	1	0	0	0	0	1	0	0	0	13255	1145	40	1	941	1	RFPL3	22	32756800	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	170022	32756800	18547766	107	16903											
WNK3	65267	broad.mit.edu	37	chrX	54275317	54275317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacttctgtcactggaCaggagagggtatcttcagca	10	11	11	9	0	4	2	2	1	2	1	4	4	4	3	0	3	1	2	0	3	2	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:54275317C>A	ENST00000375159.2	-	16	3463	c.3464G>T	c.(3463-3465)tGt>tTt	p.C1155F	WNK3_ENST00000354646.2_Missense_Mutation_p.C1155F|WNK3_ENST00000375169.3_Missense_Mutation_p.C1155F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1155					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTCACTGGACAGGAGAGGGT	0.458																																						uc004dtc.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3463-3465)tGt>tTt		Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.							111	106	108					X																	54275317		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275317C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3464G>T	X.37:g.54275317C>A	ENSP00000364301:p.Cys1155Phe					WNK3_uc004dtd.2_Missense_Mutation_p.C1155F	p.C1155F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN			16	3903	-			1155					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3464G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641164	0.29157	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70164	-0.44;-0.46;-0.46	5.19	3.36	0.38483	.	0.282412	0.31188	N	0.008082	T	0.42675	0.1213	L	0.27053	0.805	0.33138	D	0.544014	P;B	0.38440	0.631;0.112	B;B	0.29663	0.105;0.033	T	0.49862	-0.8894	10	0.12103	T	0.63	-0.8411	8.0361	0.30493	0.159:0.7531:0.0:0.0879	.	1155;1155	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	1155	ENSP00000364312:C1155F;ENSP00000346667:C1155F;ENSP00000364301:C1155F	ENSP00000346667:C1155F	C	-	2	0	WNK3	54292042	0.959000	0.32827	0.993000	0.49108	0.997000	0.91878	1.333000	0.33816	0.367000	0.24454	0.544000	0.68410	TGT		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54275317	C	A	54275317	3	1	238	1	0	0	0	0	1	0	0	0	17376	478	17	5	1970	5	WNK3	23	54275317	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		54275317	100995243	108	16904											
SPIN3	169981	broad.mit.edu	37	chrX	57021377	57021377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttccaaacggggtctTcatgcctgcgaagaggagca	9	9	12	11	2	2	1	1	0	1	1	3	3	3	2	3	3	5	1	3	3	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:57021377T>G	ENST00000374919.3	-	2	326	c.4A>C	c.(4-6)Aag>Cag	p.K2Q		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	2					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AACGGGGTCTTCATGCCTGCG	0.537																																						uc022bxv.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(4-6)Aag>Cag		Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.							28	27	27					X																	57021377		2059	4171	6230	SO:0001583	missense	169981				gamete generation			g.chrX:57021377T>G	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.4A>C	X.37:g.57021377T>G	ENSP00000364054:p.Lys2Gln					SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Missense_Mutation_p.K2Q|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	p.K2Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			0	4	-			2					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.4A>C	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174727	0.57692	.	.	ENSG00000204271	ENST00000374919;ENST00000374915	T	0.48836	0.8	2.45	2.45	0.29901	.	.	.	.	.	T	0.63367	0.2505	M	0.70275	2.135	0.29645	N	0.844448	D	0.76494	0.999	D	0.78314	0.991	T	0.57608	-0.7782	9	0.87932	D	0	-4.7336	8.0376	0.30502	0.0:0.0:0.0:1.0	.	2	Q5JUX0	SPIN3_HUMAN	Q	2	ENSP00000364054:K2Q	ENSP00000364050:K2Q	K	-	1	0	SPIN3	57038102	1.000000	0.71417	0.929000	0.37066	0.168000	0.22595	1.345000	0.33953	1.229000	0.43630	0.486000	0.48141	AAG		0.537	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		G	57021377	T	G	57021377	3	3	238	1	0	0	0	0	1	0	0	0	15054	1792	62	5	776	5	SPIN3	23	57021377	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	2746060	57021377	98249183	109	16905											
TAF1	6872	broad.mit.edu	37	chrX	70680548	70680548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacccaaacaaccccgcaTgcttcaggagaacacaagga	17	3	8	13	1	1	2	1	0	0	2	1	4	1	3	3	2	4	2	3	2	5	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:70680548T>G	ENST00000373790.4	+	37	5342	c.5291T>G	c.(5290-5292)aTg>aGg	p.M1764R	TAF1_ENST00000276072.3_Missense_Mutation_p.M1785R|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Missense_Mutation_p.M1787R|TAF1_ENST00000449580.1_Missense_Mutation_p.M1798R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1764	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAACCCCGCATGCTTCAGGAG	0.483																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(5290-5292)aTg>aGg		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							128	93	105					X																	70680548		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70680548T>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5291T>G	X.37:g.70680548T>G	ENSP00000362895:p.Met1764Arg					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.M1785R|TAF1_uc004dzv.4_Missense_Mutation_p.M972R|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	p.M1764R	NM_138923	NP_620278	P21675	TAF1_HUMAN			36	5342	+	Renal(35;0.156)	all_lung(315;0.000321)	1764			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.5291T>G	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.55|12.55	1.970822|1.970822	0.34754|0.34754	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000437147|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072	.|T;T;T;T	.|0.08370	.|3.1;3.21;3.15;3.1	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.312932	.|0.35615	.|N	.|0.003082	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.14661|0.14661	0.345|0.345	0.25110|0.25110	N|N	0.990721|0.990721	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.33929|0.33929	-0.9849|-0.9849	5|10	.|0.25106	.|T	.|0.35	.|.	13.3501|13.3501	0.60597|0.60597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|454;1798;1764;1785	.|A5CVC9;P21675-4;P21675;P21675-2	.|.;.;TAF1_HUMAN;.	G|R	453|1764;1798;1787;506;1785	.|ENSP00000362895:M1764R;ENSP00000389000:M1798R;ENSP00000406549:M1787R;ENSP00000276072:M1785R	.|ENSP00000276072:M1785R	C|M	+|+	1|2	0|0	TAF1|TAF1	70597273|70597273	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.996000|0.996000	0.88848|0.88848	5.666000|5.666000	0.68059|0.68059	1.723000|1.723000	0.51488|0.51488	0.430000|0.430000	0.28490|0.28490	TGC|ATG		0.483	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		G	70680548	T	G	70680548	3	3	238	1	0	0	0	0	1	0	0	0	15510	1464	51	5	5500	5	TAF1	23	70680548	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13659171	70680548	84590012	110	16906											
CHD5	26038	broad.mit.edu	37	chr1	6171855	6171855	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcacgatgcccgccagcagCcagtagtcatggcgccggtg	7	6	14	14	4	2	0	2	0	0	0	2	1	2	0	4	2	3	2	4	2	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:6171855C>T	ENST00000262450.3	-	36	5328	c.5229G>A	c.(5227-5229)tgG>tgA	p.W1743*	CHD5_ENST00000378021.1_Nonsense_Mutation_p.W600*	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGCCAGCAGCCAGTAGTCAT	0.637																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5227-5229)tgG>tgA		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							49	53	52					1																	6171855		2203	4300	6503	SO:0001587	stop_gained	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6171855C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5229G>A	1.37:g.6171855C>T	ENSP00000262450:p.Trp1743*					CHD5_uc001alz.2_Nonsense_Mutation_p.W600*|CHD5_uc001ama.2_Non-coding_Transcript	p.W1743*	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	35	5340	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1743					A8KAP8|A8MQ44|D3DSH9|O60740	Nonsense_Mutation	SNP	ENST00000262450.3	37	c.5229G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	58	33.077376	0.99980	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3188	18.4814	0.90812	0.0:1.0:0.0:0.0	.	.	.	.	X	1743;600;600	.	ENSP00000262450:W1743X	W	-	3	0	CHD5	6094442	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.705000	0.84606	2.434000	0.82447	0.561000	0.74099	TGG		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6171855	C	T	6171855	4	4	239	1	0	0	0	0	0	1	0	0	3328	740	26	3	659	3	CHD5	1	6171855	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		6171855	243078766	1	16907											
CDA	978	broad.mit.edu	37	chr1	20944973	20944973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caactggcccgtgtacatgaCcaagccggatggtacgtata	11	8	11	11	3	0	1	0	1	0	0	0	2	0	2	3	3	4	3	3	3	6	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:20944973C>T	ENST00000375071.3	+	4	535	c.353C>T	c.(352-354)aCc>aTc	p.T118I	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	118					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTGTACATGACCAAGCCGGAT	0.582																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(352-354)aCc>aTc		Homo sapiens cytidine deaminase (CDA), mRNA.	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						91	73	79					1																	20944973		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20944973C>T	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.353C>T	1.37:g.20944973C>T	ENSP00000364212:p.Thr118Ile					CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	p.T118I	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	532	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	118						Missense_Mutation	SNP	ENST00000375071.3	37	c.353C>T	CCDS210.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405199	0.83230	.	.	ENSG00000158825	ENST00000375071	T	0.44083	0.93	5.72	5.72	0.89469	Cytidine deaminase-like (1);	0.167697	0.53938	D	0.000053	T	0.56529	0.1991	L	0.48935	1.535	0.51012	D	0.999903	D	0.58970	0.984	D	0.65323	0.934	T	0.55798	-0.8084	10	0.62326	D	0.03	.	15.3701	0.74557	0.0:1.0:0.0:0.0	.	118	P32320	CDD_HUMAN	I	118	ENSP00000364212:T118I	ENSP00000364212:T118I	T	+	2	0	CDA	20817560	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.234000	0.65343	2.703000	0.92315	0.491000	0.48974	ACC		0.582	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		T	20944973	C	T	20944973	3	4	239	1	0	0	0	0	1	0	0	0	3052	507	18	3	367	3	CDA	1	20944973	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	14773118	20944973	228305648	2	16908											
HNRNPR	10236	broad.mit.edu	37	chr1	23660032	23660032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgttccaattccaggttgCacgccagagtacacactgtc	9	10	8	14	2	0	1	0	0	0	1	4	1	3	1	4	1	2	4	4	1	2	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:23660032C>T	ENST00000374612.1	-	5	600	c.477G>A	c.(475-477)gtG>gtA	p.V159V	HNRNPR_ENST00000374616.3_Silent_p.V159V|HNRNPR_ENST00000302271.6_Silent_p.V159V|HNRNPR_ENST00000478691.1_Silent_p.V58V|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000427764.2_Intron|HNRNPR_ENST00000426846.2_Silent_p.V58V	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	159					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCAGGTTGCACGCCAGAGT	0.453																																						uc001bgr.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(475-477)gtG>gtA		Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.							111	97	102					1																	23660032		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23660032C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.477G>A	1.37:g.23660032C>T						HNRNPR_uc010odw.2_Intron|HNRNPR_uc009vql.3_Intron|HNRNPR_uc001bgp.4_Silent_p.V159V|HNRNPR_uc001bgs.4_Silent_p.V58V|HNRNPR_uc009vqk.3_Silent_p.V58V|HNRNPR_uc010odx.2_Silent_p.V58V	p.V159V	NM_005826	NP_001095867	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	4	636	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	159					Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.477G>A	CCDS232.1																																																																																				0.453	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		T	23660032	C	T	23660032	2	4	239	1	0	0	0	0	0	0	0	1	7272	697	25	3		3	HNRNPR	1	23660032	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	2715059	23660032	225590589	3	16909											
TXNIP	10628	broad.mit.edu	37	chr1	145439907	145439907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtggatctggtggatgtCaatacccctgatttaatggt	9	14	12	6	0	2	1	1	1	1	0	2	3	2	3	2	4	1	1	2	4	4	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:145439907C>T	ENST00000369317.4	+	3	787	c.453C>T	c.(451-453)gtC>gtT	p.V151V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	151					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGTGGATGTCAATACCCCTG	0.433																																						uc001enn.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(451-453)gtC>gtT		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							88	92	91					1																	145439907		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439907C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.453C>T	1.37:g.145439907C>T						TXNIP_uc010oys.2_Silent_p.V96V	p.V151V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			2	794	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		151					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.453C>T	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		T	145439907	C	T	145439907	2	4	239	1	0	0	0	0	0	0	0	1	16800	813	29	3		3	TXNIP	1	145439907	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	121779875	145439907	103810714	4	16910											
RXFP4	339403	broad.mit.edu	37	chr1	155911855	155911855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgcaagatggttctgAcggccactgtcctcaacgtc	7	10	9	15	2	3	2	1	1	2	1	5	2	4	2	3	2	2	2	3	2	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:155911855A>C	ENST00000368318.3	+	1	376	c.355A>C	c.(355-357)Acg>Ccg	p.T119P		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGGTTCTGACGGCCACTGT	0.632																																						uc010pgs.2																			0				endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13						c.(355-357)Acg>Ccg		Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.							84	72	76					1																	155911855		2203	4300	6503	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155911855A>C	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"GPCR / Class A : Relaxin family peptide receptors"	14666	protein-coding gene	gene with protein product		609043	"G protein-coupled receptor 100", "relaxin 3 receptor 2", "relaxin family peptide receptor 4"	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.355A>C	1.37:g.155911855A>C	ENSP00000357301:p.Thr119Pro						p.T119P	NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN			0	376	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		119					B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.355A>C	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266234	0.59540	.	.	ENSG00000173080	ENST00000368318	T	0.37915	1.17	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.250737	0.32473	N	0.006046	T	0.50360	0.1611	M	0.81239	2.535	0.35046	D	0.760173	D	0.76494	0.999	D	0.72982	0.979	T	0.60276	-0.7295	10	0.62326	D	0.03	-13.1521	11.8884	0.52615	1.0:0.0:0.0:0.0	.	119	Q8TDU9	RL3R2_HUMAN	P	119	ENSP00000357301:T119P	ENSP00000357301:T119P	T	+	1	0	RXFP4	154178479	0.004000	0.15560	0.551000	0.28230	0.990000	0.78478	1.448000	0.35112	1.906000	0.55180	0.379000	0.24179	ACG		0.632	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		C	155911855	A	C	155911855	3	2	239	1	0	0	0	0	1	0	0	0	13762	275	10	5	357	5	RXFP4	1	155911855	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	10471948	155911855	93338766	5	16911											
NME7	29922	broad.mit.edu	37	chr1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaaatttagcagtgtttgCcggcccacaacctccacttg	10	11	8	12	1	0	0	0	0	0	0	1	0	1	0	4	1	3	3	4	1	4	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000472647.1_Missense_Mutation_p.A195T|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358																																						uc001gfu.3																			1	Substitution - Missense(1)	p.A231T(2)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(691-693)Gca>Aca		Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.							220	216	217					1																	169256604		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256604C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr					NME7_uc001gft.3_Missense_Mutation_p.A195T|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.A231T	p.A231T	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN			6	929	-	all_hematologic(923;0.208)		231					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.691G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		T	169256604	C	T	169256604	3	4	239	1	0	0	0	0	1	0	0	0	10496	739	26	3	463	3	NME7	1	169256604	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	13344749	169256604	79994017	6	16912											
IGFN1	91156	broad.mit.edu	37	chr1	201182608	201182608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaatgaagatcagagcCgggagccccctggtcacctt	9	8	12	12	1	2	4	2	2	0	2	2	5	2	5	4	2	3	1	4	2	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:201182608C>T	ENST00000335211.4	+	12	8717	c.8587C>T	c.(8587-8589)Cgg>Tgg	p.R2863W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R23W|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	406						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGATCAGAGCCGGGAGCCCCC	0.582																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8587-8589)Cgg>Tgg		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							62	57	59					1																	201182608		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201182608C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8587C>T	1.37:g.201182608C>T	ENSP00000334714:p.Arg2863Trp					IGFN1_uc001gwb.3_Intron	p.R2863W	NM_001164586	NP_001158058					11	8717	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8587C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.110920|2.110920	0.37242|0.37242	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.58940	.|0.3;0.63	2.88|2.88	0.608|0.608	0.17569|0.17569	.|.	.|1.029950	.|0.07903	.|U	.|0.973045	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.33494	.|0.414	.|B	.|0.17433	.|0.018	T|T	0.23332|0.23332	-1.0191|-1.0191	5|10	.|0.48119	.|T	.|0.1	.|.	2.6671|2.6671	0.05056|0.05056	0.3266:0.3894:0.0:0.284|0.3266:0.3894:0.0:0.284	.|.	.|2863	.|F8WAI1	.|.	L|W	280|2863;23	.|ENSP00000334714:R2863W;ENSP00000295591:R23W	.|ENSP00000295591:R23W	P|R	+|+	2|1	0|2	IGFN1|IGFN1	199449231|199449231	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.941000|-0.941000	0.03925|0.03925	0.415000|0.415000	0.25817|0.25817	-0.424000|-0.424000	0.05967|0.05967	CCG|CGG		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201182608	C	T	201182608	3	4	239	1	0	0	0	0	1	0	0	0	7590	643	23	2	8629	2	IGFN1	1	201182608	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	31926004	201182608	48068013	7	16913											
KDM5B	10765	broad.mit.edu	37	chr1	202722182	202722182	+	Frame_Shift_Del	DEL	T	T	-																															ccctgggactccataccaggTttttggctcacccctggaaa																								rs534732205		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:202722182delT	ENST00000367265.3	-	12	2716	c.1552delA	c.(1552-1554)accfs	p.T518fs	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Frame_Shift_Del_p.T554fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	518	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCATACCAGGTTTTTGGCTCA	0.423																																						uc009xag.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1660-1662)accfs		Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.							65	71	69					1																	202722182		2203	4300	6503	SO:0001589	frameshift_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202722182delT	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1552delA	1.37:g.202722182delT	ENSP00000356234:p.Thr518fs					KDM5B_uc001gyf.3_Frame_Shift_Del_p.T518fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs	p.T554fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			12	1776	-			518			JmjC.		O95811|Q15752|Q9Y3Q5	Frame_Shift_Del	DEL	ENST00000367265.3	37	c.1660delA	CCDS30974.1																																																																																				0.423	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		-	202722182	T	-	202722182	7	5	239	1	0	1	0	1	0	0	0	0	8134	1725	60	0	3146	0	KDM5B	1	202722182	Frame_Shift_Del	DEL	T	TCGA-32-4213-01A-01D-1353-08	1539574	202722182	46528439	8	16914											
TIA1	7072	broad.mit.edu	37	chr2	70457951	70457951	+	Frame_Shift_Del	DEL	A	A	-																															gctgcatgacgatgctcatgAaactccacaaaacaataggg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:70457951delA	ENST00000433529.2	-	3	369	c.159delT	c.(157-159)tttfs	p.F53fs	TIA1_ENST00000416149.2_Frame_Shift_Del_p.F53fs|TIA1_ENST00000282574.4_Frame_Shift_Del_p.F53fs|TIA1_ENST00000445587.1_Frame_Shift_Del_p.F53fs|TIA1_ENST00000415783.2_Frame_Shift_Del_p.F53fs|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GATGCTCATGAAACTCCACAA	0.398																																						uc002sgj.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(157-159)tttfs		Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.							131	128	129					2																	70457951		2203	4300	6503	SO:0001589	frameshift_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70457951delA		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.159delT	2.37:g.70457951delA	ENSP00000401371:p.Phe53fs					TIA1_uc002sgk.4_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.4_Non-coding_Transcript|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.2_Frame_Shift_Del_p.F53fs	p.F53fs	NM_022173	NP_071505	P31483	TIA1_HUMAN			2	376	-			53			RRM 1.		Q53SS9	Frame_Shift_Del	DEL	ENST00000433529.2	37	c.159delT	CCDS1901.1																																																																																				0.398	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		-	70457951	A	-	70457951	7	5	239	1	0	1	0	1	0	0	0	0	15884	243	9	0	1045	0	TIA1	2	70457951	Frame_Shift_Del	DEL	A	TCGA-32-4213-01A-01D-1353-08		70457951	172741422	9	16915											
YSK4	80122	broad.mit.edu	37	chr2	135738775	135738775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatgtaccacacagttcTcatggagataagcaacacct	13	8	8	12	2	1	1	1	0	1	1	2	3	1	1	2	1	3	3	2	1	3	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:135738775T>C	ENST00000375845.3	-	9	3566	c.3536A>G	c.(3535-3537)gAg>gGg	p.E1179G	MAP3K19_ENST00000358371.4_Missense_Mutation_p.E1066G|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E311G|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.E40G|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E313G|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E361G	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CACACAGTTCTCATGGAGATA	0.413																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3535-3537)gAg>gGg		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							142	140	140					2																	135738775		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738775T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3536A>G	2.37:g.135738775T>C	ENSP00000365005:p.Glu1179Gly					YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc021vpz.1_Missense_Mutation_p.E40G|YSK4_uc002tuh.4_Missense_Mutation_p.E907G|YSK4_uc002tui.4_3'UTR	p.E1179G	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3567	-			1179			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3536A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594632	0.46214	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000253	T	0.23766	0.0575	N	0.20807	0.61	0.25064	N	0.991043	P;P;P;P;P	0.52170	0.81;0.919;0.951;0.905;0.934	P;P;P;P;P	0.53401	0.498;0.604;0.553;0.553;0.725	T	0.12811	-1.0533	10	0.19590	T	0.45	.	9.6964	0.40161	0.0:0.0768:0.0:0.9232	.	311;1066;313;361;1179	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	G	1179;1066;361;313;311;569;40	ENSP00000365005:E1179G;ENSP00000351140:E1066G;ENSP00000365004:E361G;ENSP00000376650:E313G;ENSP00000376649:E311G;ENSP00000392827:E569G;ENSP00000321160:E40G	ENSP00000321160:E40G	E	-	2	0	YSK4	135455245	0.494000	0.26043	1.000000	0.80357	0.997000	0.91878	0.415000	0.21181	2.192000	0.70111	0.460000	0.39030	GAG		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		C	135738775	T	C	135738775	3	2	239	1	0	0	0	0	1	0	0	0	17492	1551	54	4	458	4	YSK4	2	135738775	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	65280824	135738775	107460598	10	16916											
TTN	7273	broad.mit.edu	37	chr2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgataacctgccaactaCggcgacttgcctctcgtttc	8	11	7	15	3	1	1	0	1	1	0	3	2	1	1	3	1	5	1	3	1	3	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:179413171C>T	ENST00000591111.1	-	289	88483	c.88259G>A	c.(88258-88260)cGt>cAt	p.R29420H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31061H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29420	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCAACTACGGCGACTTGC	0.498																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85477-85479)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							192	191	191					2																	179413171		2000	4160	6160	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413171C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88259G>A	2.37:g.179413171C>T	ENSP00000465570:p.Arg29420His					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22188H|TTN_uc021vta.1_Missense_Mutation_p.R22121H|TTN_uc021vtb.1_Missense_Mutation_p.R21996H	p.R28493H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	85703	-			29420			Ig-like 132.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85478G>A		.	.	.	.	.	.	.	.	.	.	C	17.62	3.433719	0.62955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72630	0.3484	M	0.73319	2.225	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.74768	-0.3553	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	21996;22121;22188;29420	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28493;21996;22188;22121;21993	ENSP00000343764:R28493H;ENSP00000434586:R21996H;ENSP00000340554:R22188H;ENSP00000352154:R22121H	ENSP00000340554:R22188H	R	-	2	0	TTN	179121417	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	4.102000	0.57776	2.646000	0.89796	0.655000	0.94253	CGT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179413171	C	T	179413171	3	4	239	1	0	0	0	0	1	0	0	0	16732	536	19	1	14893	1	TTN	2	179413171	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	43674396	179413171	63786202	11	16917											
SPAG16	79582	broad.mit.edu	37	chr2	214204919	214204919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatttgctgaaaattcagaAagaacgtgattttcatcgaa	16	12	8	5	2	2	5	2	2	0	3	3	6	2	5	0	0	2	1	0	0	5	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:214204919A>G	ENST00000331683.5	+	6	664	c.569A>G	c.(568-570)aAa>aGa	p.K190R	SPAG16_ENST00000447990.1_Missense_Mutation_p.K190R|SPAG16_ENST00000374309.3_Missense_Mutation_p.K96R|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.K190R|SPAG16_ENST00000413312.1_Missense_Mutation_p.K159R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	190					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAATTCAGAAAGAACGTGAT	0.294																																						uc002veq.3																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(568-570)aAa>aGa		Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.							36	37	37					2																	214204919		2202	4296	6498	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214204919A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.569A>G	2.37:g.214204919A>G	ENSP00000332592:p.Lys190Arg					SPAG16_uc010fuz.2_Missense_Mutation_p.K41R|SPAG16_uc002ver.3_Missense_Mutation_p.K136R|SPAG16_uc010zjk.2_Missense_Mutation_p.K96R|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	p.K190R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	5	661	+		Renal(323;0.00461)	190					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.569A>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112021	0.77210	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.62498	0.03;0.02	5.96	5.96	0.96718	.	0.065985	0.64402	D	0.000001	T	0.76744	0.4030	M	0.66939	2.045	0.36652	D	0.877449	D;P;P;D;D	0.69078	0.997;0.886;0.724;0.972;0.997	D;B;B;P;D	0.75020	0.985;0.44;0.292;0.728;0.985	T	0.81718	-0.0805	10	0.54805	T	0.06	.	14.4005	0.67041	1.0:0.0:0.0:0.0	.	96;41;159;130;190	B4DYB5;Q8N0X2-2;Q8N0X2-3;Q4G1A2;Q8N0X2	.;.;.;.;SPG16_HUMAN	R	190;159;190;190;96	ENSP00000332592:K190R;ENSP00000363428:K96R	ENSP00000272898:K190R	K	+	2	0	SPAG16	213913164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.615000	0.67702	2.285000	0.76669	0.533000	0.62120	AAA		0.294	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		G	214204919	A	G	214204919	3	3	239	1	0	0	0	0	1	0	0	0	14978	14	1	4	607	4	SPAG16	2	214204919	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	34791748	214204919	28994454	12	16918											
FN1	2335	broad.mit.edu	37	chr2	216300455	216300455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcttcgaggctcccGtggagggcaccgctgtcccc	3	10	12	16	3	2	0	0	0	2	0	5	2	4	1	4	3	1	4	4	3	0	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:216300455G>A	ENST00000359671.1	-	1	336	c.71C>T	c.(70-72)aCg>aTg	p.T24M	FN1_ENST00000356005.4_Missense_Mutation_p.T24M|FN1_ENST00000354785.4_Missense_Mutation_p.T24M|FN1_ENST00000336916.4_Missense_Mutation_p.T24M|FN1_ENST00000323926.6_Missense_Mutation_p.T24M|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.T24M|FN1_ENST00000426059.1_Missense_Mutation_p.T24M|FN1_ENST00000446046.1_Missense_Mutation_p.T24M|FN1_ENST00000346544.3_Missense_Mutation_p.T24M|FN1_ENST00000357009.2_Missense_Mutation_p.T24M|FN1_ENST00000421182.1_Missense_Mutation_p.T24M|FN1_ENST00000345488.5_Missense_Mutation_p.T24M|FN1_ENST00000357867.4_Missense_Mutation_p.T24M|FN1_ENST00000443816.1_Missense_Mutation_p.T24M			P02751	FINC_HUMAN	fibronectin 1	24					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGAGGCTCCCGTGGAGGGCAC	0.667																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(70-72)aCg>aTg		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						24	22	23					2																	216300455		2203	4299	6502	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216300455G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.71C>T	2.37:g.216300455G>A	ENSP00000352696:p.Thr24Met					FN1_uc002vfc.3_Missense_Mutation_p.T24M|FN1_uc002vfe.3_Missense_Mutation_p.T24M|FN1_uc002vff.3_Missense_Mutation_p.T24M|FN1_uc002vfg.3_Missense_Mutation_p.T24M|FN1_uc002vfh.3_Missense_Mutation_p.T24M|FN1_uc002vfi.3_Missense_Mutation_p.T24M|FN1_uc002vfj.3_Missense_Mutation_p.T24M|FN1_uc002vfb.3_Missense_Mutation_p.T24M|FN1_uc002vfl.3_Missense_Mutation_p.T24M	p.T24M	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	0	337	-		Renal(323;0.127)	24					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	G	14.65	2.597892	0.46318	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;2.2;2.37;0.91;2.44;2.08;2.41;2.08;2.37;2.11;1.6;0.9;1.5;1.47	5.47	1.41	0.22369	.	0.804891	0.10972	N	0.613763	T	0.41673	0.1169	N	0.13098	0.295	0.09310	N	1	P;D;P;D;B;B;P;P;B;B;P	0.71674	0.865;0.98;0.759;0.998;0.265;0.173;0.864;0.834;0.265;0.265;0.742	B;P;B;P;B;B;P;B;B;B;B	0.61201	0.179;0.591;0.299;0.885;0.141;0.067;0.498;0.272;0.141;0.141;0.408	T	0.20107	-1.0285	10	0.35671	T	0.21	.	4.4412	0.11575	0.1304:0.1251:0.6154:0.1291	.	24;24;24;24;24;24;24;24;24;24;24	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	M	24	ENSP00000394423:T24M;ENSP00000323534:T24M;ENSP00000338200:T24M;ENSP00000350534:T24M;ENSP00000346839:T24M;ENSP00000352696:T24M;ENSP00000265312:T24M;ENSP00000273049:T24M;ENSP00000349509:T24M;ENSP00000410422:T24M;ENSP00000415018:T24M;ENSP00000399538:T24M;ENSP00000348285:T24M;ENSP00000398907:T24M	ENSP00000265313:T24M	T	-	2	0	FN1	216008700	0.022000	0.18835	0.000000	0.03702	0.165000	0.22458	1.952000	0.40343	0.278000	0.22164	0.585000	0.79938	ACG		0.667	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216300455	G	A	216300455	3	1	239	1	0	0	0	0	1	0	0	0	5962	1145	40	1	7579	1	FN1	2	216300455	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	2095536	216300455	26898918	13	16919											
FAM134A	79137	broad.mit.edu	37	chr2	220046155	220046155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagacagagagtgaaagCgaggcagagctggctggctt	12	5	17	7	1	0	4	0	1	0	3	0	7	0	4	0	3	2	5	0	3	1	1	rs548711754		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:220046155C>T	ENST00000430297.2	+	7	985	c.849C>T	c.(847-849)agC>agT	p.S283S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTGAAAGCGAGGCAGAGC	0.542													C|||	1	0.000199681	0	0	5008	,	,		18963	0		0	False		,,,				2504	0.001					uc002vjw.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(847-849)agC>agT		Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.							56	57	57					2																	220046155		2203	4300	6503	SO:0001819	synonymous_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046155C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.849C>T	2.37:g.220046155C>T						FAM134A_uc010fwc.3_Silent_p.S76S|FAM134A_uc002vjx.3_Silent_p.S76S	p.S283S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	985	+		Renal(207;0.0915)	283					Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	c.849C>T	CCDS2434.1																																																																																				0.542	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		T	220046155	C	T	220046155	2	4	239	1	0	0	0	0	0	0	0	1	5445	767	27	1		1	FAM134A	2	220046155	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	3745700	220046155	23153218	14	16920											
SP100	6672	broad.mit.edu	37	chr2	231406616	231406616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttactcaacagaacagagagGggtctcagggcccacagaag	14	5	12	10	0	2	3	2	0	1	3	3	4	2	3	1	3	3	0	1	3	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:231406616G>A	ENST00000340126.4	+	28	2444	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACAGAGAGGGGTCTCAGGG	0.478																																						uc002vqu.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2413-2415)Ggg>Agg		Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.							78	76	76					2																	231406616		1879	4113	5992	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406616G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2413G>A	2.37:g.231406616G>A	ENSP00000343023:p.Gly805Arg					SP100_uc010fxp.1_Missense_Mutation_p.G123R	p.G805R	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	27	2554	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	0					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2413G>A	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698763|-1.698763	0.00725|0.00725	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|T	.|0.44482	.|0.92	3.99|3.99	-7.97|-7.97	0.01139|0.01139	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.11927|0.11927	0.2|0.2	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.07927|0.07927	-1.0747|-1.0747	5|9	.|0.26408	.|T	.|0.33	.|.	1.4994|1.4994	0.02473|0.02473	0.3483:0.289:0.2075:0.1552|0.3483:0.289:0.2075:0.1552	.|.	.|275;805	.|E9PHN1;P23497-4	.|.;.	E|R	178|805;275	.|ENSP00000343023:G805R	.|ENSP00000343023:G805R	G|G	+|+	2|1	0|0	SP100|SP100	231114860|231114860	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-5.808000|-5.808000	0.00097|0.00097	-4.311000|-4.311000	0.00057|0.00057	-1.814000|-1.814000	0.00607|0.00607	GGG|GGG		0.478	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		A	231406616	G	A	231406616	3	1	239	1	0	0	0	0	1	0	0	0	14960	1232	43	3	3073	3	SP100	2	231406616	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	11360461	231406616	11792757	15	16921											
HDAC4	9759	broad.mit.edu	37	chr2	240002804	240002804	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcacctgaaggccgccaAgtactcagcgtctcccatgg	8	7	11	15	2	3	1	2	1	1	0	4	1	3	1	4	3	2	2	4	3	3	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:240002804A>G	ENST00000345617.3	-	22	3513	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L	HDAC4_ENST00000543185.1_Silent_p.L492L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	908	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGGCCGCCAAGTACTCAGCG	0.602																																						uc002vyk.4																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2722-2724)Ttg>Ctg		Homo sapiens histone deacetylase 4 (HDAC4), mRNA.							32	37	36					2																	240002804		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240002804A>G	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2722T>C	2.37:g.240002804A>G						HDAC4_uc010fyy.3_Silent_p.L865L	p.L908L	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	21	3514	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	908			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2722T>C	CCDS2529.1																																																																																				0.602	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		G	240002804	A	G	240002804	2	3	239	1	0	0	0	0	0	0	0	1	7009	69	3	4		4	HDAC4	2	240002804	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	8596188	240002804	3196569	16	16922											
CHRD	8646	broad.mit.edu	37	chr3	184099068	184099068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggcagggtcagctgcAagaacatcaaaccagagtgc	12	5	12	12	0	2	2	2	0	0	2	2	2	2	2	2	2	5	3	2	2	3	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr3:184099068A>G	ENST00000204604.1	+	3	544	c.298A>G	c.(298-300)Aag>Gag	p.K100E	CHRD_ENST00000348986.3_Missense_Mutation_p.K100E|CHRD_ENST00000450923.1_Missense_Mutation_p.K100E|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	100	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCAGCTGCAAGAACATCAA	0.647																																						uc003fov.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(298-300)Aag>Gag		Homo sapiens chordin (CHRD), mRNA.							19	23	22					3																	184099068		2201	4297	6498	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099068A>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.298A>G	3.37:g.184099068A>G	ENSP00000204604:p.Lys100Glu					CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.K100E|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	p.K100E	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	544	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		100			VWFC 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.298A>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510967	0.64522	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.71579	-0.58;-0.58;-0.58	5.18	5.18	0.71444	von Willebrand factor, type C (3);	0.048756	0.85682	D	0.000000	T	0.60547	0.2277	N	0.24115	0.695	0.80722	D	1	B;B	0.27286	0.062;0.174	B;B	0.32724	0.151;0.068	T	0.61048	-0.7141	10	0.49607	T	0.09	-21.6553	13.8652	0.63583	1.0:0.0:0.0:0.0	.	100;100	E7ESX1;Q9H2X0	.;CHRD_HUMAN	E	100	ENSP00000204604:K100E;ENSP00000408972:K100E;ENSP00000334036:K100E	ENSP00000204604:K100E	K	+	1	0	CHRD	185581762	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.548000	0.73896	1.954000	0.56735	0.459000	0.35465	AAG		0.647	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		G	184099068	A	G	184099068	3	3	239	1	0	0	0	0	1	0	0	0	3372	131	5	4	308	4	CHRD	3	184099068	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08		184099068	13923362	17	16923											
RASSF6	166824	broad.mit.edu	37	chr4	74464408	74464408	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcataaaaaatgttataGgtcttcaataaagaattaag	18	14	5	4	0	3	1	2	0	2	1	4	1	3	1	0	1	0	1	0	1	10	7			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:74464408G>T	ENST00000342081.3	-	3	319	c.189C>A	c.(187-189)acC>acA	p.T63T	RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000307439.5_Silent_p.T31T|RASSF6_ENST00000395777.2_Silent_p.T31T	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	63					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAATGTTATAGGTCTTCAATA	0.303																																						uc003hhd.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(187-189)acC>acA		Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.							57	56	56					4																	74464408		2201	4297	6498	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74464408G>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.189C>A	4.37:g.74464408G>T						RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	p.T63T	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	312	-	Breast(15;0.00102)		63					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.189C>A	CCDS3558.1																																																																																				0.303	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		T	74464408	G	T	74464408	2	4	239	1	0	0	0	0	0	0	0	1	13090	987	35	5		5	RASSF6	4	74464408	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		74464408	116689868	18	16924											
EGF	1950	broad.mit.edu	37	chr4	110882086	110882086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtaaaaacacccctggatCctattactgcacgtgccctg	10	10	8	13	1	0	0	0	0	0	0	1	1	1	1	4	1	4	2	4	1	5	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:110882086C>A	ENST00000265171.5	+	7	1575	c.1130C>A	c.(1129-1131)tCc>tAc	p.S377Y	EGF_ENST00000509793.1_Missense_Mutation_p.S335Y|EGF_ENST00000503392.1_Missense_Mutation_p.S377Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	377	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ACCCCTGGATCCTATTACTGC	0.398																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1129-1131)tCc>tAc		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						242	218	226					4																	110882086		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110882086C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1130C>A	4.37:g.110882086C>A	ENSP00000265171:p.Ser377Tyr					EGF_uc011cfu.2_Missense_Mutation_p.S335Y|EGF_uc011cfv.2_Missense_Mutation_p.S377Y	p.S377Y	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	6	1582	+		Hepatocellular(203;0.0893)	377			EGF-like 2; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1130C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101505	0.76983	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95412	-3.7;-3.7;-3.7	4.82	4.82	0.62117	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99804	1.1037	10	0.72032	D	0.01	.	17.9396	0.89023	0.0:1.0:0.0:0.0	.	377;335;377	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	335;377;377	ENSP00000424316:S335Y;ENSP00000265171:S377Y;ENSP00000421384:S377Y	ENSP00000265171:S377Y	S	+	2	0	EGF	111101535	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	5.236000	0.65354	2.225000	0.72522	0.561000	0.74099	TCC		0.398	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			A	110882086	C	A	110882086	3	1	239	1	0	0	0	0	1	0	0	0	4962	855	30	5	1156	5	EGF	4	110882086	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	36417678	110882086	80272190	19	16925											
DNAH5	1767	broad.mit.edu	37	chr5	13883072	13883072	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggacactgatgatgcactCcacggctttgttcagggtct	8	11	12	10	1	2	2	1	2	1	0	3	3	3	3	1	3	1	3	1	3	0	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:13883072C>A	ENST00000265104.4	-	20	3219	c.3115G>T	c.(3115-3117)Gag>Tag	p.E1039*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1039	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGATGCACTCCACGGCTTTG	0.537									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3115-3117)Gag>Tag		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							173	151	159					5																	13883072		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883072C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3115G>T	5.37:g.13883072C>A	ENSP00000265104:p.Glu1039*						p.E1039*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			19	3157	-	Lung NSC(4;0.00476)		1039			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.3115G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	42	9.736460	0.99251	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.03	6.03	0.97812	.	0.103999	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	1039	.	ENSP00000265104:E1039X	E	-	1	0	DNAH5	13936072	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.846000	0.69444	2.868000	0.98415	0.557000	0.71058	GAG		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13883072	C	A	13883072	4	1	239	1	0	0	0	0	0	1	0	0	4604	864	30	5	10999	5	DNAH5	5	13883072	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		13883072	167032188	20	16926											
AP3B1	8546	broad.mit.edu	37	chr5	77473219	77473219	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgccagcttcagatttTggtgatatgtgccaatacag	11	14	9	7	0	1	2	1	1	0	1	1	2	1	2	2	1	4	1	2	1	4	6			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:77473219T>G	ENST00000255194.6	-	9	1159	c.984A>C	c.(982-984)ccA>ccC	p.P328P	AP3B1_ENST00000519295.1_Silent_p.P279P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	328					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTCAGATTTTGGTGATATGT	0.348									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(982-984)ccA>ccC		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							118	114	116					5																	77473219		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77473219T>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.984A>C	5.37:g.77473219T>G							p.P328P	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	8	1109	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	328					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.984A>C	CCDS4041.1																																																																																				0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			G	77473219	T	G	77473219	2	3	239	1	0	0	0	0	0	0	0	1	744	1799	63	5		5	AP3B1	5	77473219	Silent	SNP	T	TCGA-32-4213-01A-01D-1353-08	63590147	77473219	103442041	21	16927											
GABRG2	2566	broad.mit.edu	37	chr5	161524689	161524689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaacgtggtatgacagaCgtttgaaatttaacagcacc	14	9	9	9	3	0	3	0	2	0	1	0	3	0	3	1	1	3	4	1	1	4	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:161524689C>T	ENST00000361925.4	+	4	593	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	GABRG2_ENST00000414552.2_Missense_Mutation_p.R125C|GABRG2_ENST00000356592.3_Missense_Mutation_p.R125C|GABRG2_ENST00000393933.4_Missense_Mutation_p.R30C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	125					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R125C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGACAGACGTTTGAAATT	0.328																																						uc010jjc.3																			1	Substitution - Missense(1)	p.R125C(2)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(373-375)Cgt>Tgt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							90	91	91					5																	161524689		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524689C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.373C>T	5.37:g.161524689C>T	ENSP00000354651:p.Arg125Cys					GABRG2_uc003lyy.4_Missense_Mutation_p.R125C|GABRG2_uc003lyz.4_Missense_Mutation_p.R125C|GABRG2_uc011dej.2_Missense_Mutation_p.R30C	p.R125C	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	3	731	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	125					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.373C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819241	0.71028	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95812	0.8842	10	0.87932	D	0	.	15.6854	0.77405	0.1375:0.8625:0.0:0.0	.	125;125;125	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	125;125;125;30;30	ENSP00000349000:R125C;ENSP00000410732:R125C;ENSP00000354651:R125C;ENSP00000377510:R30C;ENSP00000430182:R30C	ENSP00000349000:R125C	R	+	1	0	GABRG2	161457267	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.215000	0.42862	2.756000	0.94617	0.563000	0.77884	CGT		0.328	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161524689	C	T	161524689	3	4	239	1	0	0	0	0	1	0	0	0	6172	536	19	1	387	1	GABRG2	5	161524689	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	84051470	161524689	19390571	22	16928											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410459	32410459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgctccaactatactcCgatcaccaatggtacctccc	12	8	5	16	2	1	0	1	0	0	0	4	1	4	0	5	1	4	2	5	1	6	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:32410459C>T	ENST00000374982.5	+	2	390	c.317C>T	c.(316-318)cCg>cTg	p.P106L	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.P106L			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	106	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AACTATACTCCGATCACCAAT	0.463									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													uc003obh.3																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(316-318)cCg>cTg		Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.							206	189	195					6																	32410459		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410459C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.317C>T	6.37:g.32410459C>T	ENSP00000364121:p.Pro106Leu					HLA-DRA_uc003obi.3_Missense_Mutation_p.P106L	p.P106L	NM_019111	NP_061984	P01903	DRA_HUMAN			1	426	+			106			Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.317C>T		.	.	.	.	.	.	.	.	.	.	.	9.484	1.098919	0.20552	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01068	5.38;5.38	5.38	4.52	0.55395	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.061993	0.64402	D	0.000003	T	0.01287	0.0042	M	0.91300	3.195	0.21220	N	0.999756	P;P	0.40360	0.706;0.714	B;B	0.38378	0.272;0.057	T	0.31308	-0.9948	10	0.72032	D	0.01	.	9.7988	0.40751	0.0:0.9082:0.0:0.0918	.	106;106	Q30118;P01903	.;DRA_HUMAN	L	106	ENSP00000378786:P106L;ENSP00000364121:P106L	ENSP00000364121:P106L	P	+	2	0	HLA-DRA	32518437	0.000000	0.05858	0.037000	0.18230	0.008000	0.06430	0.135000	0.15952	1.523000	0.49018	0.638000	0.83543	CCG		0.463	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		T	32410459	C	T	32410459	3	4	239	1	0	0	0	0	1	0	0	0	7207	652	23	2	323	2	HLA-DRA	6	32410459	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		32410459	138704608	23	16929											
DNAH8	1769	broad.mit.edu	37	chr6	38773311	38773311	+	Frame_Shift_Del	DEL	A	A	-																															aggagagggtgaaaacaatgActatgaagctaatattgtga																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:38773311delA	ENST00000359357.3	+	21	2692	c.2438delA	c.(2437-2439)gacfs	p.D813fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.D1030fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.D813fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	813					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAACAATGACTATGAAGCT	0.308																																						uc021yzh.1																			0		p.P1030T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3088-3090)gacfs		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							108	106	107					6																	38773311		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38773311delA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2438delA	6.37:g.38773311delA	ENSP00000352312:p.Asp813fs					DNAH8_uc003ooe.2_Frame_Shift_Del_p.D813fs	p.D1030fs	NM_001206927	NP_001193856					22	3198	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.3089delA																																																																																					0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		-	38773311	A	-	38773311	7	5	239	1	0	1	0	1	0	0	0	0	4607	275	10	0	2512	0	DNAH8	6	38773311	Frame_Shift_Del	DEL	A	TCGA-32-4213-01A-01D-1353-08	6362852	38773311	132341756	24	16930											
HEY2	23493	broad.mit.edu	37	chr6	126080811	126080811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccatgcttcccccaaacGcagcagcagcagtggccgcg	8	5	10	18	3	0	0	0	0	0	0	2	0	2	0	5	1	5	5	5	1	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:126080811G>A	ENST00000368364.3	+	5	1074	c.877G>A	c.(877-879)Gca>Aca	p.A293T	HEY2_ENST00000368365.1_Missense_Mutation_p.A247T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	293	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCCCCAAACGCAGCAGCAGC	0.647																																						uc003qad.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(877-879)Gca>Aca		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							78	87	84					6																	126080811		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080811G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.877G>A	6.37:g.126080811G>A	ENSP00000357348:p.Ala293Thr					HEY2_uc011ebr.2_Missense_Mutation_p.A247T	p.A293T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	4	1068	+			293			Ala-rich.			Missense_Mutation	SNP	ENST00000368364.3	37	c.877G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918302	0.52546	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59906	0.25;0.23	5.64	5.64	0.86602	.	0.312221	0.30374	N	0.009766	T	0.25158	0.0611	N	0.08118	0	0.45261	D	0.998266	P	0.51653	0.947	B	0.40134	0.32	T	0.10132	-1.0643	10	0.18710	T	0.47	-13.3863	19.7057	0.96071	0.0:0.0:1.0:0.0	.	293	Q9UBP5	HEY2_HUMAN	T	247;293	ENSP00000357349:A247T;ENSP00000357348:A293T	ENSP00000357348:A293T	A	+	1	0	HEY2	126122504	0.992000	0.36948	0.086000	0.20670	0.779000	0.44077	3.035000	0.49759	2.651000	0.90000	0.561000	0.74099	GCA		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			A	126080811	G	A	126080811	3	1	239	1	0	0	0	0	1	0	0	0	7079	1087	38	1	895	1	HEY2	6	126080811	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	87307500	126080811	45034256	25	16931											
USP42	84132	broad.mit.edu	37	chr7	6189851	6189851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaagaaaacggcctagCgcctgatggtgccagctgcc	10	5	12	14	3	0	2	0	1	0	1	0	3	0	2	5	2	5	1	5	2	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:6189851C>T	ENST00000306177.5	+	13	2182	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	675					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.A675V(1)|p.A803V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACGGCCTAGCGCCTGATGGT	0.562																																						uc011jwo.1																			2	Substitution - Missense(2)	p.A675V(1)|p.A803V(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2023-2025)gCg>gTg		Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.							32	36	34					7																	6189851		2060	4194	6254	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189851C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2024C>T	7.37:g.6189851C>T	ENSP00000301962:p.Ala675Val					USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.2_Missense_Mutation_p.A675V|USP42_uc011jwq.2_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V	p.A675V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	2147	+		Ovarian(82;0.0423)	675					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.2024C>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369166	0.24771	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.47177	0.85;0.85	5.83	2.74	0.32292	.	1.448360	0.03809	N	0.265659	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.002;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.18147	-1.0346	10	0.37606	T	0.19	.	3.6091	0.08053	0.1788:0.4475:0.0:0.3737	.	638;675;675;675	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	V	675;521	ENSP00000301962:A675V;ENSP00000408217:A521V	ENSP00000301962:A675V	A	+	2	0	USP42	6156377	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.345000	0.19979	0.628000	0.30357	0.650000	0.86243	GCG		0.562	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		T	6189851	C	T	6189851	3	4	239	1	0	0	0	0	1	0	0	0	17070	768	27	1	2070	1	USP42	7	6189851	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		6189851	152948812	26	16932											
ZNF479	90827	broad.mit.edu	37	chr7	57194352	57194352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctctatataaattcCgctgagcacaatccaggcat	13	11	5	12	1	2	1	1	1	1	0	5	1	4	1	2	1	1	3	2	1	5	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:57194352C>T	ENST00000331162.4	-	3	383	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398																																						uc010kzo.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(112-114)cGg>cAg		Homo sapiens zinc finger protein 479 (ZNF479), mRNA.							72	73	72					7																	57194352		2194	4293	6487	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194352C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.113G>A	7.37:g.57194352C>T	ENSP00000333776:p.Arg38Gln						p.R38Q	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		2	384	-			38			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.113G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.981095	0.00448	.	.	ENSG00000185177	ENST00000331162	T	0.02763	4.17	1.25	-1.27	0.09347	Krueppel-associated box (4);	.	.	.	.	T	0.03477	0.0100	M	0.80183	2.485	0.20489	N	0.999892	B	0.06786	0.001	B	0.09377	0.004	T	0.53173	-0.8476	9	0.02654	T	1	.	4.7395	0.13005	0.0:0.3561:0.0:0.6439	.	38	Q96JC4	ZN479_HUMAN	Q	38	ENSP00000333776:R38Q	ENSP00000333776:R38Q	R	-	2	0	ZNF479	57198294	0.001000	0.12720	0.503000	0.27626	0.530000	0.34684	-0.836000	0.04382	-0.139000	0.11414	-0.530000	0.04314	CGG		0.398	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57194352	C	T	57194352	3	4	239	1	0	0	0	0	1	0	0	0	17930	652	23	2	1473	2	ZNF479	7	57194352	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	51004501	57194352	101944311	27	16933											
WBSCR17	64409	broad.mit.edu	37	chr7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagtgccggcccatcGcggtgcgcagcggagacgcc	6	4	16	15	6	0	1	0	0	0	1	1	2	0	1	4	4	3	1	4	4	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:70597882G>A	ENST00000333538.5	+	1	728	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	32					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637																																						uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(94-96)Gcg>Acg		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							47	43	44					7																	70597882		2203	4298	6501	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597882G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.94G>A	7.37:g.70597882G>A	ENSP00000329654:p.Ala32Thr						p.A32T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			0	94	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	32					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.94G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620191	0.14193	.	.	ENSG00000185274	ENST00000333538	T	0.54675	0.56	4.85	1.87	0.25490	.	0.689293	0.12343	N	0.477303	T	0.20170	0.0485	N	0.02539	-0.55	0.29122	N	0.880214	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	10	0.12103	T	0.63	.	3.1355	0.06437	0.2502:0.0:0.3929:0.3569	.	32	Q6IS24	GLTL3_HUMAN	T	32	ENSP00000329654:A32T	ENSP00000329654:A32T	A	+	1	0	WBSCR17	70235818	0.985000	0.35326	0.999000	0.59377	0.976000	0.68499	0.334000	0.19787	0.622000	0.30249	-0.244000	0.11960	GCG		0.637	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		A	70597882	G	A	70597882	3	1	239	1	0	0	0	0	1	0	0	0	17261	1087	38	1	96	1	WBSCR17	7	70597882	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	13403530	70597882	88540781	28	16934											
MUC17	140453	broad.mit.edu	37	chr7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCcaacctcaactcctagtgaa	12	8	8	13	0	1	2	1	2	0	0	2	2	2	2	4	1	6	3	4	1	6	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9814-9816)Cca>Tca		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							336	334	334					7																	100684511		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684511C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9814C>T	7.37:g.100684511C>T	ENSP00000302716:p.Pro3272Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.P3272S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	9867	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3272			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9814C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.591	0.477466	0.12521	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	1.25	-2.31	0.06765	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.29852	-0.9998	9	0.08599	T	0.76	.	2.0673	0.03605	0.2482:0.2806:0.0:0.4712	.	3272	Q685J3	MUC17_HUMAN	S	3272	ENSP00000302716:P3272S	ENSP00000302716:P3272S	P	+	1	0	MUC17	100471231	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.045000	0.00306	-0.659000	0.05359	0.196000	0.17591	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100684511	C	T	100684511	3	4	239	1	0	0	0	0	1	0	0	0	9974	739	26	3	9824	3	MUC17	7	100684511	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	30086629	100684511	58454152	29	16935											
FOXP2	93986	broad.mit.edu	37	chr7	114303551	114303551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagtttaggctatggaGcagctcttaatgccagtttg	9	13	10	9	0	1	0	0	0	1	0	1	1	1	1	2	2	4	5	2	2	4	6			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:114303551G>A	ENST00000393494.2	+	15	2095	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.A623T|FOXP2_ENST00000350908.4_Missense_Mutation_p.A606T|FOXP2_ENST00000408937.3_Missense_Mutation_p.A631T|FOXP2_ENST00000393489.3_Missense_Mutation_p.A514T|FOXP2_ENST00000393498.2_Missense_Mutation_p.A585T|FOXP2_ENST00000393491.3_Missense_Mutation_p.A421T			O15409	FOXP2_HUMAN	forkhead box P2	606					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGGCTATGGAGCAGCTCTTAA	0.303																																						uc003vhb.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1816-1818)Gca>Aca		Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.							102	102	102					7																	114303551		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114303551G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1816G>A	7.37:g.114303551G>A	ENSP00000377132:p.Ala606Thr					FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.A631T|FOXP2_uc003vha.3_Missense_Mutation_p.A514T|FOXP2_uc011kmv.2_Missense_Mutation_p.A605T|FOXP2_uc011kmu.2_Missense_Mutation_p.A623T|FOXP2_uc010ljz.2_Missense_Mutation_p.A421T|FOXP2_uc003vhe.1_Missense_Mutation_p.A176T	p.A606T	NM_014491	NP_055306	O15409	FOXP2_HUMAN			14	2190	+			606					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1816G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184038	0.09495	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91631	-2.54;-2.54;-2.55;-2.54;-2.63;-2.88	5.44	5.44	0.79542	.	0.099617	0.64402	D	0.000001	D	0.85388	0.5685	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B	0.24823	0.001;0.001;0.112;0.001;0.007	B;B;B;B;B	0.24848	0.002;0.003;0.056;0.002;0.007	T	0.81250	-0.1018	10	0.08837	T	0.75	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	605;623;421;606;631	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	T	606;631;623;606;583;514;421	ENSP00000377132:A606T;ENSP00000386200:A631T;ENSP00000385069:A623T;ENSP00000265436:A606T;ENSP00000377129:A514T;ENSP00000377130:A421T	ENSP00000265436:A606T	A	+	1	0	FOXP2	114090787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.546000	0.85860	0.650000	0.86243	GCA		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114303551	G	A	114303551	3	1	239	1	0	0	0	0	1	0	0	0	6027	971	34	3	2037	3	FOXP2	7	114303551	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	13619040	114303551	44835112	30	16936											
TMEM209	84928	broad.mit.edu	37	chr7	129843871	129843871	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccccaggctaagaccActttcctagcctctgtttct	7	12	8	14	0	2	1	0	0	2	1	4	2	4	2	5	2	1	2	5	2	2	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:129843871A>C	ENST00000397622.2	-	2	205	c.83T>G	c.(82-84)gTg>gGg	p.V28G	TMEM209_ENST00000336804.8_Missense_Mutation_p.V27G|TMEM209_ENST00000473456.1_Missense_Mutation_p.V28G|TMEM209_ENST00000462753.1_Missense_Mutation_p.V27G|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGCTAAGACCACTTTCCTAGC	0.408																																						uc003vpn.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(82-84)gTg>gGg		Homo sapiens transmembrane protein 209 (TMEM209), mRNA.							91	81	84					7																	129843871		1863	4087	5950	SO:0001583	missense	84928					integral to membrane		g.chr7:129843871A>C		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.83T>G	7.37:g.129843871A>C	ENSP00000380747:p.Val28Gly					TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	p.V28G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			1	206	-	Melanoma(18;0.0435)		28					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.83T>G	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777829	0.70107	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985;ENST00000471077	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.51252	-0.8729	10	0.38643	T	0.18	-19.825	15.3831	0.74676	1.0:0.0:0.0:0.0	.	28;28;28	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	G	28;27;28;27;28;71;27	ENSP00000380747:V28G;ENSP00000419697:V27G;ENSP00000417258:V28G;ENSP00000338388:V27G;ENSP00000419852:V71G;ENSP00000418474:V27G	ENSP00000338388:V27G	V	-	2	0	TMEM209	129631107	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.402000	0.90205	2.285000	0.76669	0.533000	0.62120	GTG		0.408	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		C	129843871	A	C	129843871	3	2	239	1	0	0	0	0	1	0	0	0	16131	159	6	5	1658	5	TMEM209	7	129843871	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	15540320	129843871	29294792	31	16937											
TAS2R5	54429	broad.mit.edu	37	chr7	141490298	141490298	+	Frame_Shift_Del	DEL	T	T	-																															caactggtcctcatataaccTcattatcctgggcctggctg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:141490298delT	ENST00000247883.4	+	1	282	c.137delT	c.(136-138)ctcfs	p.L46fs		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	46					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCATATAACCTCATTATCCTG	0.468																																						uc003vwr.1																			0		p.L46V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(136-138)ctcfs		Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.							114	110	111					7																	141490298		2203	4300	6503	SO:0001589	frameshift_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490298delT	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.137delT	7.37:g.141490298delT	ENSP00000247883:p.Leu46fs						p.L46fs	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			0	282	+	Melanoma(164;0.0171)		46					Q645W0|Q75MV7	Frame_Shift_Del	DEL	ENST00000247883.4	37	c.137delT	CCDS5869.1																																																																																				0.468	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			-	141490298	T	-	141490298	7	5	239	1	0	1	0	1	0	0	0	0	15580	1551	54	0	139	0	TAS2R5	7	141490298	Frame_Shift_Del	DEL	T	TCGA-32-4213-01A-01D-1353-08	11646427	141490298	17648365	32	16938											
EPHX2	2053	broad.mit.edu	37	chr8	27362585	27362585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacttcctgatagagtcGtgtcaggtgggaatggtcaa	9	13	13	6	1	2	3	2	2	0	1	4	4	3	4	1	3	0	0	1	3	3	3	rs146337543		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:27362585G>A	ENST00000521400.1	+	4	889	c.459G>A	c.(457-459)tcG>tcA	p.S153S	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.S87S|EPHX2_ENST00000518379.1_Silent_p.S153S|EPHX2_ENST00000380476.3_Silent_p.S100S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	153	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TGATAGAGTCGTGTCAGGTGG	0.547																																						uc003xfu.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(457-459)tcG>tcA		Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	Tamoxifen(DB00675)	G		1,4405	2.1+/-5.4	0,1,2202	144	114	124		459	-11.1	0	8	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	EPHX2	NM_001979.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		153/556	27362585	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27362585G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.459G>A	8.37:g.27362585G>A						EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luv.3_Silent_p.S87S|EPHX2_uc003xfv.3_Silent_p.S100S|EPHX2_uc010luw.3_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	p.S153S	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	540	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	153			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.459G>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.668906	0.03403	2.27E-4	0.0	ENSG00000120915	ENST00000521684	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.45895	0.1365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60063	-0.7336	4	.	.	.	-11.6379	8.8271	0.35061	0.1163:0.3976:0.4168:0.0693	.	.	.	.	H	153	.	.	R	+	2	0	EPHX2	27418502	0.000000	0.05858	0.028000	0.17463	0.161000	0.22273	-4.152000	0.00284	-3.109000	0.00242	-0.938000	0.02693	CGT		0.547	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			A	27362585	G	A	27362585	2	1	239	1	0	0	0	0	0	0	0	1	5180	1132	40	1		1	EPHX2	8	27362585	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		27362585	119001437	33	16939											
SLC7A13	157724	broad.mit.edu	37	chr8	87229698	87229698	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaattagaaatccaattttaCcttataaggtatagatagat	17	14	6	4	0	0	3	0	0	0	3	1	4	1	3	2	1	1	1	2	1	10	8	rs139960114		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:87229698C>T	ENST00000297524.3	-	3	1283		c.e3+1		SLC7A13_ENST00000419776.2_Splice_Site|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13							integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAATTTTACCTTATAAGGT	0.289																																						uc003ydq.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.e3+1		Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.		C		0,4346		0,0,2173	20	22	21			3.2	1	8	dbSNP_134	21	1,8543		0,1,4271	yes	splice-5	SLC7A13	NM_138817.2		0,1,6444	TT,TC,CC		0.0117,0.0,0.0078			87229698	1,12889	2173	4272	6445	SO:0001630	splice_region_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229698C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1179+1G>A	8.37:g.87229698C>T						SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	p.K393_splice	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1277	-			393					Q05C37|Q08AH9|Q96N84	Splice_Site	SNP	ENST00000297524.3	37	c.1179_splice	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875763	0.33162	0.0	1.17E-4	ENSG00000164893	ENST00000297524;ENST00000419776	.	.	.	5.03	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4894	0.38951	0.0:0.8139:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A13	87298814	0.999000	0.42202	0.979000	0.43373	0.528000	0.34623	0.475000	0.22164	0.728000	0.32382	0.650000	0.86243	.		0.289	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	Intron	T	87229698	C	T	87229698	5	4	239	1	0	0	0	0	0	0	1	0	14695	521	18	3	240	3	SLC7A13	8	87229698	Splice_Site	SNP	C	TCGA-32-4213-01A-01D-1353-08	59867113	87229698	59134324	34	16940											
DOCK8	81704	broad.mit.edu	37	chr9	441311	441311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatatgagacagttaatgAggtctacaagctggtcatcc	12	12	9	8	0	2	2	1	2	1	1	3	3	3	2	1	2	2	2	1	2	5	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:441311A>G	ENST00000453981.1	+	41	5361	c.5249A>G	c.(5248-5250)gAg>gGg	p.E1750G	DOCK8_ENST00000382329.1_Missense_Mutation_p.E1217G|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1682G|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1650G			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1750	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACAGTTAATGAGGTCTACAAG	0.473																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5248-5250)gAg>gGg		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							106	100	102					9																	441311		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:441311A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5249A>G	9.37:g.441311A>G	ENSP00000408464:p.Glu1750Gly					DOCK8_uc022bcu.1_Missense_Mutation_p.E1682G|DOCK8_uc010mgv.3_Missense_Mutation_p.E1650G|DOCK8_uc010mgu.3_Missense_Mutation_p.E1052G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	p.E1750G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5361	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1750			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5249A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428223	0.83667	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.18502	2.42;2.42;2.42;2.21	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	M	0.82823	2.61	0.80722	D	1	P;P;P	0.42584	0.784;0.784;0.784	P;B;P	0.47162	0.54;0.41;0.54	T	0.18147	-1.0346	10	0.56958	D	0.05	.	15.8331	0.78773	1.0:0.0:0.0:0.0	.	1650;1217;1750	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	G	1750;1718;1682;1650;1217	ENSP00000408464:E1750G;ENSP00000394888:E1682G;ENSP00000419438:E1650G;ENSP00000371766:E1217G	ENSP00000287364:E1718G	E	+	2	0	DOCK8	431311	1.000000	0.71417	0.993000	0.49108	0.743000	0.42351	8.651000	0.91078	2.315000	0.78130	0.533000	0.62120	GAG		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		G	441311	A	G	441311	3	3	239	1	0	0	0	0	1	0	0	0	4693	304	11	4	5411	4	DOCK8	9	441311	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08		441311	140772120	35	16941											
UNC13B	10497	broad.mit.edu	37	chr9	35396552	35396552	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctccacaatgaataCgtgcgggatctgcctgtcct	9	10	11	11	2	1	1	0	1	1	0	3	2	3	2	3	2	3	1	3	2	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:35396552C>A	ENST00000378495.3	+	26	3363	c.3141C>A	c.(3139-3141)taC>taA	p.Y1047*	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Y1059*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Y1047*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1047	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACAATGAATACGTGCGGGATC	0.552																																						uc003zwr.3																			0		p.Y1047C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3139-3141)taC>taA		Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.							111	92	98					9																	35396552		2203	4300	6503	SO:0001587	stop_gained	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396552C>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3141C>A	9.37:g.35396552C>A	ENSP00000367756:p.Tyr1047*					UNC13B_uc003zwq.3_Nonsense_Mutation_p.Y1047*	p.Y1047*	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		25	3433	+	all_epithelial(49;0.212)		1047			MHD1.		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	c.3141C>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	41	8.961900	0.99018	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.66	-6.86	0.01676	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7012	18.4113	0.90552	0.0:0.2587:0.0:0.7413	.	.	.	.	X	1059;1047;1047;634	.	ENSP00000367756:Y1047X	Y	+	3	2	UNC13B	35386552	0.001000	0.12720	0.072000	0.20136	0.857000	0.48899	-1.491000	0.02302	-1.435000	0.01972	-1.028000	0.02416	TAC		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		A	35396552	C	A	35396552	4	1	239	1	0	0	0	0	0	1	0	0	16982	547	19	5	3243	5	UNC13B	9	35396552	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	34955241	35396552	105816879	36	16942											
CACNA1B	774	broad.mit.edu	37	chr9	140953153	140953153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacttcatcatggccatgAtagccctcaacactgtggtg	11	11	8	11	0	3	1	3	1	0	0	3	1	3	1	2	2	3	0	2	2	4	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:140953153A>G	ENST00000371372.1	+	29	4586	c.4441A>G	c.(4441-4443)Ata>Gta	p.I1481V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.I1482V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.I677V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I1482V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I1481V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I1481V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1481					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGGCCATGATAGCCCTCAA	0.562																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4441-4443)Ata>Gta		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						63	59	60					9																	140953153		2029	4191	6220	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953153A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4441A>G	9.37:g.140953153A>G	ENSP00000360423:p.Ile1481Val					CACNA1B_uc022bqn.1_Missense_Mutation_p.I1481V|CACNA1B_uc011mfd.2_Missense_Mutation_p.I1082V|CACNA1B_uc004coi.3_Missense_Mutation_p.I695V	p.I1481V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	28	4586	+	all_cancers(76;0.166)		1481					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4441A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	33	5.226003	0.95173	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.47	5.47	0.80525	.	0.050906	0.85682	D	0.000000	D	0.98823	0.9603	H	0.95645	3.7	0.80722	D	1	B;D;D	0.60160	0.224;0.987;0.987	B;P;P	0.55615	0.055;0.78;0.78	D	0.99597	1.0977	10	0.87932	D	0	.	15.8881	0.79269	1.0:0.0:0.0:0.0	.	1481;1482;1481	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1481;1481;677;1481;1482;1482	ENSP00000360423:I1481V;ENSP00000277551:I1481V;ENSP00000277549:I677V;ENSP00000360414:I1481V;ENSP00000360408:I1482V;ENSP00000360406:I1482V	ENSP00000277549:I677V	I	+	1	0	CACNA1B	140072974	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.204000	0.95041	2.220000	0.72140	0.529000	0.55759	ATA		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		G	140953153	A	G	140953153	3	3	239	1	0	0	0	0	1	0	0	0	2539	333	12	4	4555	4	CACNA1B	9	140953153	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	105556601	140953153	260278	37	16943											
GPRIN2	9721	broad.mit.edu	37	chr10	46999948	46999948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtccgtccctggaagcGcctgcagccctgcatgtgtt	6	9	11	15	2	0	0	0	0	0	0	2	1	2	1	5	1	4	3	5	1	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:46999948G>A	ENST00000374317.1	+	3	1341	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	GPRIN2_ENST00000374314.4_Silent_p.A356A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	356										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCTGGAAGCGCCTGCAGCCC	0.677																																						uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1066-1068)gcG>gcA		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.							90	85	87					10																	46999948		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:46999948G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1068G>A	10.37:g.46999948G>A						GPRIN2_uc021ppt.1_Silent_p.A356A	p.A356A	NM_014696	NP_055511	O60269	GRIN2_HUMAN			2	1203	+			356					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1068G>A	CCDS31192.1																																																																																				0.677	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	46999948	G	A	46999948	2	1	239	1	0	0	0	0	0	0	0	1	6730	1074	38	1		1	GPRIN2	10	46999948	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		46999948	88534799	38	16944											
TYSND1	219743	broad.mit.edu	37	chr10	71905229	71905229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccgaggggacacgtGccgacaggtcactacaaggc	9	6	13	13	3	1	0	1	0	0	0	2	3	2	1	2	4	3	1	2	4	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:71905229G>A	ENST00000287078.6	-	1	1113	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	TYSND1_ENST00000335494.5_Missense_Mutation_p.H372Y|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	372	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GGGGACACGTGCCGACAGGTC	0.677																																						uc001jqr.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1114-1116)Cac>Tac		Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.							13	15	14					10																	71905229		2193	4287	6480	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905229G>A	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1114C>T	10.37:g.71905229G>A	ENSP00000287078:p.His372Tyr					TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.3_Intron	p.H372Y	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			0	1268	-			372			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1114C>T	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625215	0.87560	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	D;T	0.94417	-3.42;0.84	4.6	4.6	0.57074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.059907	0.64402	D	0.000003	D	0.98055	0.9359	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99113	1.0847	10	0.66056	D	0.02	-10.9934	16.1563	0.81670	0.0:0.0:1.0:0.0	.	372;372	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	Y	372	ENSP00000287078:H372Y;ENSP00000335673:H372Y	ENSP00000287078:H372Y	H	-	1	0	TYSND1	71575235	1.000000	0.71417	0.988000	0.46212	0.881000	0.50899	8.767000	0.91732	2.371000	0.80710	0.655000	0.94253	CAC		0.677	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		A	71905229	G	A	71905229	3	1	239	1	0	0	0	0	1	0	0	0	16814	1319	46	3	602	3	TYSND1	10	71905229	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	24905281	71905229	63629518	39	16945											
PTEN	5728	broad.mit.edu	37	chr10	89720805	89720806	+	Frame_Shift_Ins	INS	-	-	T																															aaggaatatctagtacttacINStttaacaaaaaatgatcttg																								rs398123330		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:89720805_89720806insT	ENST00000371953.3	+	8	2313_2314	c.956_957insT	c.(955-960)actttafs	p.L320fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	320	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T319fs*1(24)|p.L318fs*2(15)|p.T319fs*6(6)|p.R55fs*1(5)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAA	0.332		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		106	Deletion - Frameshift(54)|Whole gene deletion(37)|Insertion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.R55fs*1(5)|p.T319del(4)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.L318F(1)|p.T318fs*2(1)	central_nervous_system(28)|endometrium(27)|prostate(17)|skin(8)|breast(5)|ovary(5)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(955-957)actfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720805_89720806insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.959dupT	10.37:g.89720808_89720808dupT	ENSP00000361021:p.Leu320fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T319fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1988_1989	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.956_957insT	CCDS31238.1																																																																																				0.332	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720806	-	T	89720805	7	5	239	1	0	1	1	0	0	0	0	0	12738	565	20	0	986	0	PTEN	10	89720805	Frame_Shift_Ins	INS	-	TCGA-32-4213-01A-01D-1353-08	17815576	89720805	45813942	40	16946											
TAF5	6877	broad.mit.edu	37	chr10	105145152	105145152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaacatttacttgtttGgtgggatataaaggacacaa	14	13	8	6	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	6	7			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:105145152G>A	ENST00000369839.3	+	8	1757	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	578					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTACTTGTTTGGTGGGATATA	0.423																																						uc001kwv.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1732-1734)ttG>ttA		Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.							111	97	102					10																	105145152		2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105145152G>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1734G>A	10.37:g.105145152G>A						TAF5_uc010qqq.2_Intron	p.L578L	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	7	1757	+		Colorectal(252;0.0747)|Breast(234;0.128)	578					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.1734G>A	CCDS7547.1																																																																																				0.423	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			A	105145152	G	A	105145152	2	1	239	1	0	0	0	0	0	0	0	1	15525	1339	47	3		3	TAF5	10	105145152	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	15424347	105145152	30389595	41	16947											
TCF7L2	6934	broad.mit.edu	37	chr10	114711317	114711317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcatgatccccgaccTgacgagcccctacctcccca	8	8	5	20	2	2	2	2	2	0	0	4	4	4	2	8	0	2	0	8	0	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:114711317T>C	ENST00000355995.4	+	3	839	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TCF7L2_ENST00000369397.4_Missense_Mutation_p.L111P|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000545257.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L111P|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L111P|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L111P|TCF7L2_ENST00000369395.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000349937.2_Missense_Mutation_p.L111P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L111P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	111					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATCCCCGACCTGACGAGCCCC	0.716			T	VTI1A	colorectal																																	uc021pyi.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(331-333)cTg>cCg		Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.							24	25	25					10																	114711317		2202	4300	6502	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114711317T>C	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.332T>C	10.37:g.114711317T>C	ENSP00000348274:p.Leu111Pro					TCF7L2_uc001lah.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.2_Missense_Mutation_p.L111P|TCF7L2_uc001lae.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.2_Missense_Mutation_p.L111P|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyj.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyk.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.2_Missense_Mutation_p.L111P|TCF7L2_uc021pym.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyn.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyo.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.2_Missense_Mutation_p.L111P|TCF7L2_uc001lac.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.2_Missense_Mutation_p.L111P|TCF7L2_uc001lad.4_Missense_Mutation_p.L111P|TCF7L2_uc001lag.4_Missense_Mutation_p.L111P|TCF7L2_uc001laf.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.2_Missense_Mutation_p.L5P	p.L111P	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	2	839	+		Breast(234;0.058)|Colorectal(252;0.0615)	111					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.332T>C		.	.	.	.	.	.	.	.	.	.	t	13.77	2.336411	0.41398	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99394	-5.2;-5.21;-5.21;-5.24;-5.82;-5.82;-5.79;-5.22;-5.76	2.49	2.49	0.30216	CTNNB1 binding, N-teminal (1);	0.000000	0.39759	U	0.001263	D	0.99061	0.9678	M	0.67953	2.075	0.80722	D	1	D;D;D;P;P;D;D;D;D;B;D;D;P;P;D;P	0.89917	0.977;0.995;1.0;0.93;0.93;0.987;0.999;0.979;0.977;0.014;0.971;0.996;0.949;0.942;0.971;0.95	D;D;D;P;P;P;D;P;P;B;P;D;P;D;P;D	0.81914	0.936;0.968;0.995;0.826;0.837;0.905;0.981;0.864;0.905;0.12;0.739;0.956;0.794;0.921;0.847;0.925	D	0.99160	1.0861	10	0.87932	D	0	.	10.8136	0.46562	0.0:0.0:0.0:1.0	.	111;5;5;111;111;111;111;111;111;111;111;111;111;111;111;111	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	111;111;111;111;111;111;111;111;111;111;111;58	ENSP00000348274:L111P;ENSP00000440547:L111P;ENSP00000444972:L111P;ENSP00000446238:L111P;ENSP00000347949:L111P;ENSP00000446172:L111P;ENSP00000443626:L111P;ENSP00000358404:L111P;ENSP00000344823:L111P	ENSP00000345640:L58P	L	+	2	0	TCF7L2	114701307	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	6.380000	0.73158	0.970000	0.38263	0.000000	0.15137	CTG		0.716	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		C	114711317	T	C	114711317	3	2	239	1	0	0	0	0	1	0	0	0	15695	1580	55	4	342	4	TCF7L2	10	114711317	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	9566165	114711317	20823430	42	16948											
CD6	923	broad.mit.edu	37	chr11	60785322	60785322	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgggccctcagtatcacccGaggagcaacagtgagtcgag	10	6	13	12	2	2	1	2	1	0	0	3	4	2	2	2	2	2	2	2	2	2	1	rs137857404		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:60785322G>C	ENST00000313421.7	+	11	1860	c.1674G>C	c.(1672-1674)ccG>ccC	p.P558P	CD6_ENST00000344028.5_Silent_p.P526P|CD6_ENST00000352009.5_Silent_p.P526P|CD6_ENST00000452451.2_Silent_p.P517P|CD6_ENST00000346437.4_Silent_p.P485P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	558					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTATCACCCGAGGAGCAACA	0.552																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.3																			0		p.H557Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1672-1674)ccG>ccC		Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.							81	81	81					11																	60785322		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785322G>C		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1674G>C	11.37:g.60785322G>C						CD6_uc001nqp.3_Silent_p.P558P|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.P526P|CD6_uc001nqt.3_Silent_p.P517P	p.P558P	NM_006725	NP_006716	P30203	CD6_HUMAN			10	1899	+			558					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1674G>C	CCDS7999.1																																																																																				0.552	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		C	60785322	G	C	60785322	2	2	239	1	0	0	0	0	0	0	0	1	3028	1045	37	5		5	CD6	11	60785322	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		60785322	74221194	43	16949											
ARHGEF17	9828	broad.mit.edu	37	chr11	73076830	73076830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctggtgtcgtcctcAccatgcccacttcgcccggt	4	10	10	17	3	1	0	1	0	0	0	4	0	2	0	5	2	2	1	5	2	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:73076830A>T	ENST00000263674.3	+	20	6183	c.5833A>T	c.(5833-5835)Acc>Tcc	p.T1945S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1945					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGTCGTCCTCACCATGCCCAC	0.657																																						uc001otu.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5833-5835)Acc>Tcc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.							69	64	65					11																	73076830		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73076830A>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5833A>T	11.37:g.73076830A>T	ENSP00000263674:p.Thr1945Ser						p.T1945S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			19	5854	+			1945					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5833A>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011952	0.54468	.	.	ENSG00000110237	ENST00000263674	T	0.35421	1.31	5.28	4.13	0.48395	WD40 repeat-like-containing domain (1);	0.102505	0.64402	N	0.000003	T	0.33323	0.0859	M	0.64170	1.965	0.47698	D	0.999498	B	0.28350	0.208	B	0.23716	0.048	T	0.08452	-1.0721	10	0.30854	T	0.27	-24.8968	10.8873	0.46974	0.8592:0.0:0.0:0.1408	.	1945	Q96PE2	ARHGH_HUMAN	S	1945	ENSP00000263674:T1945S	ENSP00000263674:T1945S	T	+	1	0	ARHGEF17	72754478	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.984000	0.70548	0.998000	0.38996	0.533000	0.62120	ACC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73076830	A	T	73076830	3	4	239	1	0	0	0	0	1	0	0	0	900	159	6	5	5911	5	ARHGEF17	11	73076830	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	12291508	73076830	61929686	44	16950											
KDM4D	55693	broad.mit.edu	37	chr11	94731887	94731887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccgtcaaatggcagaCgtggtcgtggtcgccctcct	6	9	11	15	4	1	1	1	0	0	1	5	1	3	1	4	3	0	1	4	3	1	0	rs372591204		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:94731887C>T	ENST00000335080.5	+	3	2183	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	KDM4D_ENST00000536741.1_Missense_Mutation_p.R451C	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	451					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGCAGACGTGGTCGTGG	0.602																																						uc021qow.1																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1351-1353)Cgt>Tgt		Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	64	65	65		1351	-6.8	0	11		65	0,8596		0,0,4298	no	missense	KDM4D	NM_018039.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	451/524	94731887	1,12997	2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731887C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1351C>T	11.37:g.94731887C>T	ENSP00000334181:p.Arg451Cys					KDM4D_uc001pfe.3_Missense_Mutation_p.R451C	p.R451C	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			0	1351	+			451					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1351C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954912	0.18431	2.27E-4	0.0	ENSG00000186280	ENST00000335080	T	0.32023	1.47	3.38	-6.77	0.01727	.	0.567300	0.15315	U	0.268847	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.09228	-1.0684	10	0.48119	T	0.1	0.8459	4.4586	0.11656	0.3952:0.3493:0.0:0.2555	.	451	Q6B0I6	KDM4D_HUMAN	C	451	ENSP00000334181:R451C	ENSP00000334181:R451C	R	+	1	0	KDM4D	94371535	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.528000	0.02225	-1.810000	0.01230	-0.397000	0.06425	CGT		0.602	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		T	94731887	C	T	94731887	3	4	239	1	0	0	0	0	1	0	0	0	8131	536	19	1	1353	1	KDM4D	11	94731887	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	21655057	94731887	40274629	45	16951											
LST-3TM12	338821	broad.mit.edu	37	chr12	21201833	21201833	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccggcctaaccttgacCtatgatgggtttgtatatat	8	15	10	8	1	0	2	0	2	0	0	0	2	0	2	4	2	2	3	4	2	5	8			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:21201833C>A	ENST00000421593.2	+	8	1182	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	LST3_ENST00000381541.3_Silent_p.T441T|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.T441T|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	394						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAACCTTGACCTATGATGGGT	0.318																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							67	70	69					12																	21201833		2165	4283	6448	SO:0001819	synonymous_variant	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21201833C>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1182C>A	12.37:g.21201833C>A						SLCO1B3_uc010sim.2_Silent_p.T441T|SLCO1B3_uc010sin.2_Silent_p.T394T				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Silent	SNP	ENST00000421593.2	37		CCDS44843.1																																																																																				0.318	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		A	21201833	C	A	21201833	2	1	239	1	0	0	0	0	0	0	0	1	9066	668	24	5		5	LST-3TM12	12	21201833	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		21201833	112650062	46	16952											
AAAS	8086	broad.mit.edu	37	chr12	53709176	53709176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccatcgacagagtgccagGgcccagccggatgccgtctt	7	6	13	15	3	1	1	0	0	1	1	2	3	1	2	5	2	3	0	5	2	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:53709176G>A	ENST00000209873.4	-	4	507	c.342C>T	c.(340-342)gcC>gcT	p.A114A	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Silent_p.A114A|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	114					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGTGCCAGGGCCCAGCCGG	0.562																																						uc001scr.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(340-342)gcC>gcT		Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.							56	52	53					12																	53709176		2202	4300	6502	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53709176G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.342C>T	12.37:g.53709176G>A						AAAS_uc001scs.4_Silent_p.A114A	p.A114A	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			3	505	-			114					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.342C>T	CCDS8856.1																																																																																				0.562	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			A	53709176	G	A	53709176	2	1	239	1	0	0	0	0	0	0	0	1	8	1219	43	3		3	AAAS	12	53709176	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	32507343	53709176	80142719	47	16953											
POC1B	282809	broad.mit.edu	37	chr12	89864247	89864247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccgaaggatggaatgatAtgcaattaactccaccgctg	13	9	9	10	2	0	1	0	1	0	0	1	4	1	3	3	2	3	2	3	2	6	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:89864247A>G	ENST00000313546.3	-	7	829	c.701T>C	c.(700-702)aTa>aCa	p.I234T	POC1B_ENST00000549035.1_Missense_Mutation_p.I192T|POC1B_ENST00000393179.4_Missense_Mutation_p.I104T|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Missense_Mutation_p.I104T|POC1B_ENST00000378528.2_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	234					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATGGAATGATATGCAATTAAC	0.388																																						uc001tbc.3																			0				endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(700-702)aTa>aCa		Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.							129	123	125					12																	89864247		2203	4300	6503	SO:0001583	missense	282809				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89864247A>G	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.701T>C	12.37:g.89864247A>G	ENSP00000323302:p.Ile234Thr					GALNT4_uc001tba.3_Missense_Mutation_p.I192T|GALNT4_uc001tbb.3_Missense_Mutation_p.I104T|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	p.I234T	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN			6	1068	-			0			Catalytic subdomain A.		G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.701T>C	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773714	0.31411	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.729658	0.13574	N	0.377811	T	0.60366	0.2263	L	0.58969	1.84	0.80722	D	1	B	0.23185	0.081	B	0.25506	0.061	T	0.59532	-0.7437	10	0.66056	D	0.02	.	11.0391	0.47820	0.928:0.0:0.072:0.0	.	234	Q8TC44	POC1B_HUMAN	T	104;234;192;104	ENSP00000376877:I104T;ENSP00000323302:I234T;ENSP00000447916:I192T;ENSP00000440301:I104T	ENSP00000323302:I234T	I	-	2	0	POC1B	88388378	0.925000	0.31364	0.008000	0.14137	0.541000	0.35023	7.399000	0.79935	2.169000	0.68431	0.528000	0.53228	ATA		0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		G	89864247	A	G	89864247	3	3	239	1	0	0	0	0	1	0	0	0	12176	449	16	4	759	4	POC1B	12	89864247	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	36155071	89864247	43987648	48	16954											
TESC	54997	broad.mit.edu	37	chr12	117486887	117486887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggtggtgtcgatgggccGgaagtaggacatgatggtca	9	9	17	6	2	1	1	1	1	0	0	2	4	1	3	1	6	0	1	1	6	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:117486887G>A	ENST00000335209.7	-	4	472	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TESC_ENST00000392545.4_Missense_Mutation_p.R149W|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R69W			Q96BS2	CHP3_HUMAN	tescalcin	96					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TCGATGGGCCGGAAGTAGGAC	0.587																																						uc001twh.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(286-288)Cgg>Tgg		Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.							171	128	142					12																	117486887		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117486887G>A	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.286C>T	12.37:g.117486887G>A	ENSP00000334785:p.Arg96Trp					TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.R69W	p.R96W	NM_017899	NP_060369	Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	3	450	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		96					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.286C>T	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144725	0.77888	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.50548	0.74;0.74;1.15	5.74	4.77	0.60923	EF-hand-like domain (1);	0.051692	0.64402	D	0.000001	T	0.72061	0.3414	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.74023	0.982	T	0.77435	-0.2589	10	0.87932	D	0	-29.8397	15.7517	0.77992	0.0:0.0:0.8218:0.1782	.	96	Q96BS2	TESC_HUMAN	W	96;149;69	ENSP00000334785:R96W;ENSP00000376328:R149W;ENSP00000445689:R69W	ENSP00000334785:R96W	R	-	1	2	TESC	115971270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.049000	0.41288	2.709000	0.92574	0.555000	0.69702	CGG		0.587	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		A	117486887	G	A	117486887	3	1	239	1	0	0	0	0	1	0	0	0	15763	1115	39	2	378	2	TESC	12	117486887	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	27622640	117486887	16365008	49	16955											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						uc010tap.2																			2	Substitution - Missense(2)	p.A1371V(4)|p.A1371A(1)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.A1371V|SBNO1_uc010taq.2_Missense_Mutation_p.A323V	p.A1372V	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	4115	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		A	123780522	G	A	123780522	3	1	239	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	6293635	123780522	10071373	50	16956											
GLT1D1	144423	broad.mit.edu	37	chr12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagggcacgtgtgcGttttgaaggatgcctttgac	7	11	15	8	2	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	1	3	rs146263464	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:129360490G>A	ENST00000442111.2	+	2	188	c.100G>A	c.(100-102)Gtt>Att	p.V34I	GLT1D1_ENST00000281703.6_Missense_Mutation_p.V34I|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V23I|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	34					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													G|||	2	0.000399361	0.0015	0	5008	,	,		17088	0		0	False		,,,				2504	0					uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(67-69)Gtt>Att		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	150	152	152		100	-6.6	0	12	dbSNP_134	152	13,8587	9.8+/-36.6	0,13,4287	yes	missense	GLT1D1	NM_144669.1	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	34/267	129360490	17,12989	2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360490G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.100G>A	12.37:g.129360490G>A	ENSP00000394692:p.Val34Ile					GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.V23I	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		34					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096988	0.07010	9.08E-4	0.001512	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.48201	0.83;0.82;0.92	5.54	-6.59	0.01830	.	0.750686	0.12852	N	0.433825	T	0.18215	0.0437	N	0.10685	0.025	0.26759	N	0.970033	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08146	-1.0736	10	0.29301	T	0.29	-7.2202	4.1895	0.10414	0.3051:0.1938:0.406:0.0951	.	23;34	F5H088;Q96MS3-2	.;.	I	34;34;23	ENSP00000394692:V34I;ENSP00000281703:V34I;ENSP00000438158:V23I	ENSP00000281703:V34I	V	+	1	0	GLT1D1	127926443	0.000000	0.05858	0.008000	0.14137	0.587000	0.36485	-0.806000	0.04525	-1.715000	0.01389	-1.099000	0.02127	GTT		0.473	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		A	129360490	G	A	129360490	3	1	239	1	0	0	0	0	1	0	0	0	6465	1145	40	1	106	1	GLT1D1	12	129360490	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	5579968	129360490	4491405	51	16957											
TUBA3C	7278	broad.mit.edu	37	chr13	19751585	19751585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtagggctccaccacggCcgtggagacctggggggctg	5	7	18	11	2	0	1	0	0	0	1	1	2	1	1	4	6	0	4	4	6	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:19751585C>T	ENST00000400113.3	-	4	642	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	180					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCACCACGGCCGTGGAGACC	0.547																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(538-540)Gcc>Acc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							151	154	153					13																	19751585		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751585C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.538G>A	13.37:g.19751585C>T	ENSP00000382982:p.Ala180Thr						p.A180T	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	643	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	180					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.538G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	11.66	1.705230	0.30232	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69926	-0.44	1.19	0.277	0.15668	.	0.000000	0.46758	U	0.000271	T	0.66528	0.2798	.	.	.	0.35808	D	0.823685	.	.	.	.	.	.	T	0.68827	-0.5306	7	0.87932	D	0	.	5.6682	0.17707	0.0:0.7911:0.0:0.2089	.	.	.	.	T	180	ENSP00000382982:A180T	ENSP00000354037:A180T	A	-	1	0	TUBA3C	18649585	0.999000	0.42202	0.981000	0.43875	0.520000	0.34377	4.642000	0.61383	0.069000	0.16605	0.162000	0.16502	GCC		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751585	C	T	19751585	3	4	239	1	0	0	0	0	1	0	0	0	16743	739	26	3	822	3	TUBA3C	13	19751585	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		19751585	95418293	52	16958											
RB1	5925	broad.mit.edu	37	chr13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-																															tctgaatgacaacatttttcAtatgtctttattggcgtgcg																								rs367661403		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AACATTTTTCATATGTCTTTAT	0.238		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	p.0?(15)|p.?(8)|p.H483fs*9(2)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CI030637|CI071455|CM016043	RB1	I|M		c.(1447-1449)catfs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48954327_48954328delAT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.H483fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	15	1614_1615	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	483			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1448_1449delAT	CCDS31973.1																																																																																				0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48954328	AT	-	48954327	7	5	239	1	0	1	0	1	0	0	0	0	13098	217	8	0	1510	0	RB1	13	48954327	Frame_Shift_Del	DEL	AT	TCGA-32-4213-01A-01D-1353-08	29202742	48954327	66215551	53	16959											
FLJ10357	55701	broad.mit.edu	37	chr14	21552177	21552179	+	In_Frame_Del	DEL	CTG	CTG	-																															aagaggcccgtggcagagacCtgctggccgtggaggcggtg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:21552177_21552179delCTG	ENST00000298694.4	+	17	3884_3886	c.3757_3759delCTG	c.(3757-3759)ctgdel	p.L1254del	ARHGEF40_ENST00000298693.3_In_Frame_Del_p.L1254del			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1254						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGGCAGAGACCTGCTGGCCGTGG	0.655																																						uc001vzp.3																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(3757-3759)ctgdel		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.																																				SO:0001651	inframe_deletion	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21552177_21552179delCTG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3757_3759delCTG	14.37:g.21552180_21552182delCTG	ENSP00000298694:p.Leu1254del					ARHGEF40_uc001vzo.1_In_Frame_Del_p.L333del|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_In_Frame_Del_p.L540del	p.L1254del	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN			16	3786_3788	+			1254					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Del	DEL	ENST00000298694.4	37	c.3757_3759delCTG	CCDS32041.1																																																																																				0.655	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			-	21552179	CTG	-	21552177	7	5	239	1	0	1	0	1	0	0	0	0	5926	680	24	0	3823	0	FLJ10357	14	21552177	In_Frame_Del	DEL	CTG	TCGA-32-4213-01A-01D-1353-08		21552177	85797363	54	16960											
HOMEZ	57594	broad.mit.edu	37	chr14	23746303	23746303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcctcagagattggaGggaggcagatgagccccgct	9	7	15	10	1	1	3	1	1	0	2	2	6	2	5	3	3	2	4	3	3	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:23746303G>A	ENST00000357460.5	-	2	298	c.134C>T	c.(133-135)cCt>cTt	p.P45L	HOMEZ_ENST00000431326.2_Missense_Mutation_p.P47L|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P47L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGATTGGAGGGAGGCAGAT	0.532																																						uc001wja.2																			0				endometrium(5)|lung(7)	12						c.(133-135)cCt>cTt		Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.							100	95	96					14																	23746303		2016	4186	6202	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746303G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.134C>T	14.37:g.23746303G>A	ENSP00000350049:p.Pro45Leu					HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	p.P45L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	282	-	all_cancers(95;5.54e-06)		45					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.134C>T	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276655	0.80580	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.60424	0.19;0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70648	-0.4814	10	0.87932	D	0	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	47;45	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	L	45;47	ENSP00000350049:P45L;ENSP00000406579:P47L	ENSP00000350049:P45L	P	-	2	0	HOMEZ	22816143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.352000	0.73027	2.824000	0.97209	0.655000	0.94253	CCT		0.532	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		A	23746303	G	A	23746303	3	1	239	1	0	0	0	0	1	0	0	0	7281	1000	35	3	1522	3	HOMEZ	14	23746303	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	2194126	23746303	83603237	55	16961											
ADAM20	8748	broad.mit.edu	37	chr14	70990596	70990596	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagatgtgcaacatcAtgttgtagtcgattattaag	15	13	9	4	1	1	2	1	1	0	1	2	3	1	2	0	0	2	3	0	0	6	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:70990596A>G	ENST00000256389.3	-	2	1273	c.1029T>C	c.(1027-1029)caT>caC	p.H343H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	293	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCAACATCATGTTGTAGTC	0.368																																						uc021rvs.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1027-1029)caT>caC		Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.							174	105	128					14																	70990596		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990596A>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1029T>C	14.37:g.70990596A>G						ADAM20_uc001xme.3_Silent_p.H343H	p.H343H	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	0	1029	-			293			Peptidase M12B.		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1029T>C	CCDS32111.1																																																																																				0.368	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			G	70990596	A	G	70990596	2	3	239	1	0	0	0	0	0	0	0	1	242	214	8	4		4	ADAM20	14	70990596	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	47244293	70990596	36358944	56	16962											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447154	103447154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcgaagttggatgtgtCagagggactgctcacatcag	10	9	13	9	2	3	1	3	0	0	1	4	4	3	3	0	2	1	2	0	2	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:103447154C>A	ENST00000361246.2	-	8	1384	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGATGTGTCAGAGGGACTG	0.463																																						uc001ymi.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1096-1098)Gac>Tac		Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.							115	94	101					14																	103447154		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103447154C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1096G>T	14.37:g.103447154C>A	ENSP00000355237:p.Asp366Tyr						p.D366Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	7	1328	-		Melanoma(154;0.155)	366			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1096G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828022	0.90955	.	.	ENSG00000198752	ENST00000361246	T	0.41065	1.01	5.41	5.41	0.78517	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83084	-0.0136	10	0.87932	D	0	.	19.193	0.93675	0.0:1.0:0.0:0.0	.	366	Q9Y5S2	MRCKB_HUMAN	Y	366	ENSP00000355237:D366Y	ENSP00000355237:D366Y	D	-	1	0	CDC42BPB	102516907	1.000000	0.71417	0.980000	0.43619	0.926000	0.56050	7.792000	0.85828	2.562000	0.86427	0.655000	0.94253	GAC		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103447154	C	A	103447154	3	1	239	1	0	0	0	0	1	0	0	0	3073	826	29	5	4159	5	CDC42BPB	14	103447154	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	32456558	103447154	3902386	57	16963											
AHNAK2	113146	broad.mit.edu	37	chr14	105415172	105415172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcacgtcggcggaaaGgggctgaatgctgaggtcag	9	7	16	9	3	2	2	2	2	0	0	3	4	2	3	1	5	1	2	1	5	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:105415172G>T	ENST00000333244.5	-	7	6735	c.6616C>A	c.(6616-6618)Ctt>Att	p.L2206I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2206						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAAGGGGCTGAATG	0.642																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6616-6618)Ctt>Att		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							116	106	109					14																	105415172		1942	4131	6073	SO:0001583	missense	113146					nucleus		g.chr14:105415172G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6616C>A	14.37:g.105415172G>T	ENSP00000353114:p.Leu2206Ile					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	p.L2206I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	6736	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2206					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6616C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.467	0.856578	0.17106	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	4.26	4.26	0.50523	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	0.999997	B	0.31290	0.318	B	0.35278	0.199	T	0.56092	-0.8036	9	0.48119	T	0.1	.	11.389	0.49802	0.0:0.184:0.816:0.0	.	2206	Q8IVF2	AHNK2_HUMAN	I	2206	ENSP00000353114:L2206I	ENSP00000353114:L2206I	L	-	1	0	AHNAK2	104486217	.	.	0.083000	0.20561	0.013000	0.08279	.	.	1.933000	0.56026	0.485000	0.47835	CTT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415172	G	T	105415172	3	4	239	1	0	0	0	0	1	0	0	0	415	1000	35	5	10775	5	AHNAK2	14	105415172	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	1968018	105415172	1934368	58	16964											
RYR3	6263	broad.mit.edu	37	chr15	34080624	34080624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagagatctctatgccttCtaccccatgctgatccgcta	8	12	7	14	1	2	2	0	1	2	1	4	3	3	2	4	0	4	3	4	0	3	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:34080624C>T	ENST00000389232.4	+	67	9865	c.9795C>T	c.(9793-9795)ttC>ttT	p.F3265F	RYR3_ENST00000415757.3_Silent_p.F3265F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3265					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTATGCCTTCTACCCCATGC	0.557																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9793-9795)ttC>ttT		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							63	66	65					15																	34080624		2019	4207	6226	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080624C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9795C>T	15.37:g.34080624C>T						RYR3_uc010bar.3_Silent_p.F3265F	p.F3265F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9865	+		all_lung(180;7.18e-09)	3265					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9795C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34080624	C	T	34080624	2	4	239	1	0	0	0	0	0	0	0	1	13770	912	32	3		3	RYR3	15	34080624	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		34080624	68450768	59	16965											
MAN2A2	4122	broad.mit.edu	37	chr15	91454437	91454437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgacgccctcccagagCgcacggtgatccagctggat	8	6	12	15	4	1	2	1	1	0	1	3	4	3	3	3	2	2	2	3	2	0	0	rs114870914		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:91454437C>T	ENST00000559717.1	+	13	2371	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R146C|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R638C			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	638					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCCAGAGCGCACGGTGAT	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		20386	0		0	False		,,,				2504	0					uc010bnz.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1912-1914)Cgc>Tgc		Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.							82	63	69					15																	91454437		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454437C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1912C>T	15.37:g.91454437C>T	ENSP00000452948:p.Arg638Cys					MAN2A2_uc010boa.3_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.3_Missense_Mutation_p.R638C|MAN2A2_uc010uql.2_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.2_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	p.R638C	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		12	2027	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		638					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1912C>T	CCDS32332.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.1	4.094359	0.76870	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83506	-1.73;-1.73	5.19	4.2	0.49525	Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.149874	0.56097	D	0.000025	D	0.85097	0.5619	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.69078	0.997;0.991;0.997;0.981	P;P;P;P	0.54924	0.676;0.586;0.764;0.462	D	0.86272	0.1662	10	0.87932	D	0	-19.9469	11.5509	0.50721	0.3482:0.6518:0.0:0.0	.	146;266;638;638	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	C	638;146	ENSP00000353655:R638C;ENSP00000388221:R146C	ENSP00000353655:R638C	R	+	1	0	MAN2A2	89255441	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.984000	0.49353	2.600000	0.87896	0.485000	0.47835	CGC		0.617	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		T	91454437	C	T	91454437	3	4	239	1	0	0	0	0	1	0	0	0	9215	768	27	1	1958	1	MAN2A2	15	91454437	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	57373813	91454437	11076955	60	16966											
ADCY9	115	broad.mit.edu	37	chr16	4042213	4042213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttcttgaacctcagcGgaaggagagccgactggtcc	9	8	14	10	2	2	2	1	1	1	1	3	6	3	4	3	4	3	1	3	4	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:4042213G>T	ENST00000294016.3	-	5	2679	c.2141C>A	c.(2140-2142)cCg>cAg	p.P714Q	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACCTCAGCGGAAGGAGAGC	0.542																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2140-2142)cCg>cAg		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							105	93	97					16																	4042213		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042213G>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2141C>A	16.37:g.4042213G>T	ENSP00000294016:p.Pro714Gln						p.P714Q	NM_001116	NP_001107	O60503	ADCY9_HUMAN			4	2680	-			714					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2141C>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390043	0.61956	.	.	ENSG00000162104	ENST00000294016	D	0.84589	-1.87	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	L	0.50333	1.59	0.54753	D	0.999982	P	0.40302	0.712	B	0.33620	0.167	T	0.78140	-0.2320	10	0.11794	T	0.64	.	18.9204	0.92523	0.0:0.0:1.0:0.0	.	714	O60503	ADCY9_HUMAN	Q	714	ENSP00000294016:P714Q	ENSP00000294016:P714Q	P	-	2	0	ADCY9	3982214	1.000000	0.71417	0.943000	0.38184	0.972000	0.66771	5.260000	0.65490	2.463000	0.83235	0.643000	0.83706	CCG		0.542	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4042213	G	T	4042213	3	4	239	1	0	0	0	0	1	0	0	0	301	1116	39	5	1948	5	ADCY9	16	4042213	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		4042213	86312540	61	16967											
SOCS1	8651	broad.mit.edu	37	chr16	11348719	11348719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaatctggaaggggaagGagctcaggtagtcgcggagg	11	6	18	6	2	3	0	2	0	1	0	4	4	3	4	0	7	1	2	0	7	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:11348719G>T	ENST00000332029.2	-	2	767	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	206	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GAAGGGGAAGGAGCTCAGGTA	0.627			"F, O"		"Hodgkin Lymphoma, PMBL"																																Colon(177;456 3548 27231)	uc021tcz.1				Rec	yes		16	16p13.13	8651	"F, O"	suppressor of cytokine signaling 1			L			"Hodgkin Lymphoma, PMBL"		2	Whole gene deletion(1)|Deletion - In frame(1)	p.S206P(1)|p.R127_*212del(1)|p.0?(1)|p.S205N(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						c.(616-618)tCc>tAc		Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.							16	17	16					16																	11348719		2190	4281	6471	SO:0001583	missense	8651				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	g.chr16:11348719G>T	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.617C>A	16.37:g.11348719G>T	ENSP00000329418:p.Ser206Tyr					RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Missense_Mutation_p.S206Y	p.S206Y	NM_003745	NP_003736	O15524	SOCS1_HUMAN			0	617	-			206			SOCS box.		O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	c.617C>A	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041562	0.55003	.	.	ENSG00000185338	ENST00000332029	T	0.28454	1.61	4.25	4.25	0.50352	SOCS protein, C-terminal (3);	0.208103	0.40302	N	0.001122	T	0.46502	0.1396	L	0.46157	1.445	0.50467	D	0.999879	D	0.65815	0.995	P	0.62649	0.905	T	0.49781	-0.8903	10	0.87932	D	0	-9.1369	15.8385	0.78818	0.0:0.0:1.0:0.0	.	206	O15524	SOCS1_HUMAN	Y	206	ENSP00000329418:S206Y	ENSP00000329418:S206Y	S	-	2	0	SOCS1	11256220	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	4.996000	0.63914	2.211000	0.71520	0.561000	0.74099	TCC		0.627	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			T	11348719	G	T	11348719	3	4	239	1	0	0	0	0	1	0	0	0	14913	1174	41	5	22	5	SOCS1	16	11348719	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	7306506	11348719	79006034	62	16968											
SEZ6L2	26470	broad.mit.edu	37	chr16	29908260	29908260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagggctgggtgggggtgGggctgtggttcctgggggcg	1	8	26	6	1	0	0	0	0	0	0	1	0	1	0	1	10	0	4	1	10	0	1	rs201397581		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:29908260G>A	ENST00000308713.5	-	3	921	c.394C>T	c.(394-396)Cca>Tca	p.P132S	SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P88S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P132S|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	132	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGGGGTGGGGCTGTGGTT	0.687													G|||	1	0.000199681	0	0	5008	,	,		7272	0.001		0	False		,,,				2504	0					uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(394-396)Cca>Tca		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.							20	19	19					16																	29908260		2194	4294	6488	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29908260G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.394C>T	16.37:g.29908260G>A	ENSP00000312550:p.Pro132Ser					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P88S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P132S	p.P132S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			2	639	-			132			Pro-rich.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.394C>T	CCDS10659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.60	2.286290	0.40494	.	.	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.41758	1.55;1.55;0.99	5.36	3.35	0.38373	.	0.126162	0.36482	N	0.002567	T	0.21631	0.0521	N	0.12182	0.205	0.40876	D	0.983954	B;B;B;B	0.21753	0.06;0.036;0.036;0.036	B;B;B;B	0.20767	0.031;0.014;0.014;0.014	T	0.06356	-1.0831	9	.	.	.	.	8.7224	0.34449	0.0804:0.0:0.7666:0.1529	.	88;132;132;132	F5H293;B7Z5L4;Q9BW82;Q6UXD5	.;.;.;SE6L2_HUMAN	S	132;132;88	ENSP00000312550:P132S;ENSP00000319215:P132S;ENSP00000439412:P88S	.	P	-	1	0	SEZ6L2	29815761	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	2.059000	0.41384	1.228000	0.43614	0.561000	0.74099	CCA		0.687	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		A	29908260	G	A	29908260	3	1	239	1	0	0	0	0	1	0	0	0	14144	1232	43	3	2441	3	SEZ6L2	16	29908260	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	18559541	29908260	60446493	63	16969											
CHD9	80205	broad.mit.edu	37	chr16	53358755	53358755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgcttcatctggatCtgatagtacatcgtcgtcat	9	14	9	9	2	4	2	2	2	2	0	6	3	4	3	0	1	3	3	0	1	2	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:53358755C>A	ENST00000398510.3	+	38	8729	c.8642C>A	c.(8641-8643)tCt>tAt	p.S2881Y	CHD9_ENST00000447540.1_Missense_Mutation_p.S2866Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2865Y|CHD9_ENST00000566029.1_Missense_Mutation_p.S2865Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2881	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCATCTGGATCTGATAGTACA	0.388																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8641-8643)tCt>tAt		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							26	24	25					16																	53358755		1871	4094	5965	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358755C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8642C>A	16.37:g.53358755C>A	ENSP00000381522:p.Ser2881Tyr					CHD9_uc002egy.3_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.3_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.3_Missense_Mutation_p.S1979Y|CHD9_uc002ehg.2_Missense_Mutation_p.S1996Y|CHD9_uc010cbw.3_Missense_Mutation_p.S947Y	p.S2881Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			37	8806	+		all_cancers(37;0.0212)	2881			Poly-Ser.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8642C>A		.	.	.	.	.	.	.	.	.	.	C	13.49	2.252687	0.39797	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86432	-2.12	4.91	4.91	0.64330	.	0.000000	0.49305	D	0.000151	D	0.89901	0.6849	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.997;0.995;0.997	D;D;D;D	0.80764	0.994;0.994;0.986;0.994	D	0.90907	0.4773	10	0.56958	D	0.05	-11.8854	18.4523	0.90709	0.0:1.0:0.0:0.0	.	947;2866;2881;2865	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2866;2865;947	ENSP00000396345:S2866Y	ENSP00000381522:S2865Y	S	+	2	0	CHD9	51916256	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.686000	0.68211	2.427000	0.82271	0.655000	0.94253	TCT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		A	53358755	C	A	53358755	3	1	239	1	0	0	0	0	1	0	0	0	3332	913	32	5	8744	5	CHD9	16	53358755	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	23450495	53358755	36995998	64	16970											
CDH8	1006	broad.mit.edu	37	chr16	61687800	61687800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccttggcataaactgCaaatctggtttaatatcctt	10	15	6	10	0	1	0	0	0	1	0	2	0	2	0	3	2	3	3	3	2	5	7			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:61687800C>A	ENST00000577390.1	-	12	3066	c.2112G>T	c.(2110-2112)ttG>ttT	p.L704F	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.L704F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	704					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATAAACTGCAAATCTGGTT	0.428																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(2110-2112)ttG>ttT		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							103	105	104					16																	61687800		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687800C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2112G>T	16.37:g.61687800C>A	ENSP00000462701:p.Leu704Phe						p.L704F	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	3067	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	704					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2112G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621833	0.14193	.	.	ENSG00000150394	ENST00000299345	T	0.77489	-1.1	5.7	3.58	0.41010	Cadherin, cytoplasmic domain (1);	0.073684	0.53938	D	0.000043	T	0.63908	0.2551	L	0.41492	1.28	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.55166	-0.8183	10	0.21014	T	0.42	.	5.662	0.17674	0.3554:0.5414:0.0:0.1031	.	704	P55286	CADH8_HUMAN	F	704	ENSP00000299345:L704F	ENSP00000299345:L704F	L	-	3	2	CDH8	60245301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.585000	0.36600	1.314000	0.45095	0.655000	0.94253	TTG		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61687800	C	A	61687800	3	1	239	1	0	0	0	0	1	0	0	0	3116	709	25	5	291	5	CDH8	16	61687800	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	8329045	61687800	28666953	65	16971											
DPH1	1801	broad.mit.edu	37	chr17	1936938	1936938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctggaggatccaacaagcCcaggccaagaagggtgagcc	13	4	13	11	0	1	2	0	1	1	1	2	4	2	4	4	4	3	0	4	4	4	0	rs375374400		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:1936938C>A	ENST00000263083.6	+	2	261	c.216C>A	c.(214-216)gcC>gcA	p.A72A	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	72					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAACAAGCCCAGGCCAAGA	0.582																																						uc010vqs.2																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(244-246)gcC>gcA		Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.							85	94	91					17																	1936938		1997	4146	6143	SO:0001819	synonymous_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1936938C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.216C>A	17.37:g.1936938C>A						DPH1_uc002fts.3_Silent_p.A72A|DPH1_uc002ftt.3_Silent_p.A67A|DPH1_uc010cjx.3_5'UTR	p.A82A	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			0	252	+			72					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Silent	SNP	ENST00000263083.6	37	c.246C>A	CCDS42228.1																																																																																				0.582	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		A	1936938	C	A	1936938	2	1	239	1	0	0	0	0	0	0	0	1	4719	610	22	5		5	DPH1	17	1936938	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		1936938	79258272	66	16972											
KRT38	8687	broad.mit.edu	37	chr17	39594785	39594785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctccagggcattcacCgtgcatctcagctccaggat	8	9	8	16	1	2	0	2	0	1	0	6	1	5	1	5	2	2	3	5	2	0	1	rs374000196		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39594785C>T	ENST00000246646.3	-	5	977	c.978G>A	c.(976-978)acG>acA	p.T326T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	326	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCATTCACCGTGCATCTCA	0.597																																						uc002hwq.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(976-978)acG>acA		Homo sapiens keratin 38 (KRT38), mRNA.		C		0,4406		0,0,2203	145	110	122		978	-1.5	0.4	17		122	2,8592		0,2,4295	no	coding-synonymous	KRT38	NM_006771.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		326/457	39594785	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39594785C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.978G>A	17.37:g.39594785C>T							p.T326T	NM_006771	NP_006762	O76015	KRT38_HUMAN			4	1401	-		Breast(137;0.000496)	326			Coil 2.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.978G>A	CCDS11392.1																																																																																				0.597	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		T	39594785	C	T	39594785	2	4	239	1	0	0	0	0	0	0	0	1	8475	639	23	2		2	KRT38	17	39594785	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	37657847	39594785	41600425	67	16973											
KRT16	3868	broad.mit.edu	37	chr17	39768925	39768925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggaggtgaactggcGgctgcaggtggtcatggtgc	6	8	20	7	1	1	1	1	1	0	0	1	3	1	3	0	8	3	3	0	8	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39768925G>A	ENST00000301653.4	-	1	80	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	6	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.657																																						uc002hxg.4																			0		p.R6L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(16-18)Cgc>Tgc		Homo sapiens keratin 16 (KRT16), mRNA.							8	8	8					17																	39768925		2034	4060	6094	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768925G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.16C>T	17.37:g.39768925G>A	ENSP00000301653:p.Arg6Cys					JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.R6C	p.R6C	NM_005557	NP_005548	P08779	K1C16_HUMAN			0	155	-		Breast(137;0.000307)	6			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.16C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404390	0.42613	.	.	ENSG00000186832	ENST00000301653	T	0.76709	-1.04	4.33	3.28	0.37604	.	0.000000	0.46758	D	0.000272	T	0.56834	0.2012	N	0.19112	0.55	0.39499	D	0.968175	D	0.61697	0.99	B	0.40565	0.333	T	0.58668	-0.7596	10	0.39692	T	0.17	.	4.9763	0.14142	0.1028:0.0:0.569:0.3281	.	6	P08779	K1C16_HUMAN	C	6	ENSP00000301653:R6C	ENSP00000301653:R6C	R	-	1	0	KRT16	37022451	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	1.507000	0.35758	2.402000	0.81655	0.462000	0.41574	CGC		0.657	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		A	39768925	G	A	39768925	3	1	239	1	0	0	0	0	1	0	0	0	8453	1116	39	2	1437	2	KRT16	17	39768925	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	174140	39768925	41426285	68	16974											
KLHL11	55175	broad.mit.edu	37	chr17	40010614	40010614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcaatgtatacaaacCggtcttcaatggctagtgct	10	10	12	9	2	2	0	1	0	1	0	2	0	2	0	1	4	3	4	1	4	6	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:40010614C>T	ENST00000319121.3	-	2	1565	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	502										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GTATACAAACCGGTCTTCAAT	0.443																																						uc002hyf.1																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1504-1506)cGg>cAg		Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.							84	71	75					17																	40010614		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010614C>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1505G>A	17.37:g.40010614C>T	ENSP00000314608:p.Arg502Gln						p.R502Q	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			1	1511	-		Breast(137;0.00156)	502						Missense_Mutation	SNP	ENST00000319121.3	37	c.1505G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457100	0.63401	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.67865	-0.29	5.26	5.26	0.73747	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.60068	0.868	T	0.64385	-0.6420	10	0.17832	T	0.49	8.6842	19.2191	0.93789	0.0:1.0:0.0:0.0	.	502	Q9NVR0	KLH11_HUMAN	Q	502;365	ENSP00000314608:R502Q	ENSP00000314608:R502Q	R	-	2	0	KLHL11	37264140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.353000	0.79414	2.606000	0.88127	0.585000	0.79938	CGG		0.443	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		T	40010614	C	T	40010614	3	4	239	1	0	0	0	0	1	0	0	0	8367	652	23	2	625	2	KLHL11	17	40010614	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	241689	40010614	41184596	69	16975											
NPTX1	4884	broad.mit.edu	37	chr17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccacacctggcgtggCgctggacttgagccacatgc	6	7	13	15	3	0	1	0	1	0	0	0	2	0	2	3	3	3	1	3	3	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587																																						uc002jyp.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(787-789)Gcc>Acc		Homo sapiens neuronal pentraxin I (NPTX1), mRNA.							201	173	183					17																	78447110		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447110C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.787G>A	17.37:g.78447110C>T	ENSP00000307549:p.Ala263Thr						p.A263T	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	945	-	all_neural(118;0.0538)		263			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.787G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046740	0.55110	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06449	3.3	4.27	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.48986	1.54	0.80722	D	1	P	0.49447	0.924	B	0.41374	0.355	T	0.44847	-0.9301	10	0.17369	T	0.5	-21.6173	11.8502	0.52407	0.0:0.9132:0.0:0.0868	.	263	Q15818	NPTX1_HUMAN	T	263;25	ENSP00000307549:A263T	ENSP00000307549:A263T	A	-	1	0	NPTX1	76061705	1.000000	0.71417	0.671000	0.29857	0.545000	0.35147	5.703000	0.68340	1.001000	0.39076	0.511000	0.50034	GCC		0.587	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			T	78447110	C	T	78447110	3	4	239	1	0	0	0	0	1	0	0	0	10602	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	38436496	78447110	2748100	70	16976											
POTEC	388468	broad.mit.edu	37	chr18	14533125	14533125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatcttgagaagatacAtcaacattttgctcaaggag	15	11	9	6	0	3	3	2	1	1	3	3	6	3	4	0	1	3	1	0	1	5	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr18:14533125A>G	ENST00000358970.5	-	5	989	c.990T>C	c.(988-990)gaT>gaC	p.D330D	POTEC_ENST00000389891.4_5'UTR|RNU6-1021P_ENST00000363262.1_RNA	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	330										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGAAGATACATCAACATTTT	0.373																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(988-990)gaT>gaC		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.																																				SO:0001819	synonymous_variant	388468							g.chr18:14533125A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.990T>C	18.37:g.14533125A>G						POTEC_uc010xaj.2_Non-coding_Transcript	p.D330D	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			4	1444	-			330						Silent	SNP	ENST00000358970.5	37	c.990T>C	CCDS45835.1																																																																																				0.373	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14533125	A	G	14533125	2	3	239	1	0	0	0	0	0	0	0	1	12262	214	8	4		4	POTEC	18	14533125	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08		14533125	63544123	71	16977											
STXBP2	6813	broad.mit.edu	37	chr19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcagctgaccccGtgtccccactactgcatgag	7	7	12	15	2	0	2	0	2	0	0	1	3	1	3	5	2	3	3	5	2	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607																																						uc010xjr.2																			0		p.Q250H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(751-753)Gtg>Atg		Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.							65	66	66					19																	7707143		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707143G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.718G>A	19.37:g.7707143G>A	ENSP00000221283:p.Val240Met					STXBP2_uc002mha.4_Missense_Mutation_p.V240M|STXBP2_uc002mhb.4_Missense_Mutation_p.V237M|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	p.V251M	NM_006949	NP_008880	Q15833	STXB2_HUMAN			8	796	+			240					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.751G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		A	7707143	G	A	7707143	3	1	239	1	0	0	0	0	1	0	0	0	15352	1145	40	1	752	1	STXBP2	19	7707143	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		7707143	51421840	72	16978											
USE1	55850	broad.mit.edu	37	chr19	17330166	17330166	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaccaataccctggcCgcccagagtgtcatcaagaa	13	6	8	14	1	3	3	3	0	0	3	3	3	3	3	4	1	1	0	4	1	5	1	rs369161038		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:17330166C>T	ENST00000263897.5	+	7	614	c.567C>T	c.(565-567)gcC>gcT	p.A189A	USE1_ENST00000596136.1_Intron|USE1_ENST00000379776.4_Intron|USE1_ENST00000445667.2_Silent_p.A189A	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	189					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						ATACCCTGGCCGcccagagtg	0.607																																						uc002nfo.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(565-567)gcC>gcT		Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.							28	33	31					19																	17330166		1951	4138	6089	SO:0001819	synonymous_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330166C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"Q-SNARE", "SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.567C>T	19.37:g.17330166C>T						USE1_uc010eal.1_Intron	p.A189A	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			6	627	+			189					Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	37	c.567C>T	CCDS46011.1																																																																																				0.607	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		T	17330166	C	T	17330166	2	4	239	1	0	0	0	0	0	0	0	1	17028	639	23	2		2	USE1	19	17330166	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	9623023	17330166	41798817	73	16979											
ZNF85	7639	broad.mit.edu	37	chr19	21131689	21131689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgaaagtatggatgaGtgtaagatgcacaaaggagg	14	8	16	3	0	0	3	0	2	0	1	0	5	0	5	0	4	1	4	0	4	4	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:21131689G>A	ENST00000328178.8	+	4	482	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.E90E|ZNF85_ENST00000601023.1_Silent_p.E64E	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	123					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GTATGGATGAGTGTAAGATGC	0.328																																						uc002npg.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(367-369)gaG>gaA		Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.							62	64	63					19																	21131689		2203	4299	6502	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131689G>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.369G>A	19.37:g.21131689G>A						ZNF85_uc010ecn.3_Silent_p.E58E|ZNF85_uc010eco.3_Silent_p.E71E|ZNF85_uc002npi.3_Silent_p.E64E	p.E123E	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			3	517	+			123					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.369G>A	CCDS32977.1																																																																																				0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		A	21131689	G	A	21131689	2	1	239	1	0	0	0	0	0	0	0	1	18190	1020	36	3		3	ZNF85	19	21131689	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	3801523	21131689	37997294	74	16980											
MLL4	9757	broad.mit.edu	37	chr19	36223857	36223857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctagagaggagtcacTccccccggcgcctcccctgg	5	6	12	18	2	1	1	1	0	0	1	3	3	3	2	7	4	0	0	7	4	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:36223857T>A	ENST00000222270.7	+	28	6407	c.6407T>A	c.(6406-6408)cTc>cAc	p.L2136H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.L2136H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2136					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGGAGTCACTCCCCCCGGCG	0.662																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(6406-6408)cTc>cAc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							10	12	11					19																	36223857		1889	4108	5997	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36223857T>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6407T>A	19.37:g.36223857T>A	ENSP00000222270:p.Leu2136His	HNSCC(34;0.089)				MLL2_uc021usu.1_Missense_Mutation_p.L950H	p.L2136H	NM_014727	NP_055542	O14686	MLL2_HUMAN			27	6407	+			705			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.6407T>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	T	0.696	-0.792497	0.02884	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	3.99	2.97	0.34412	.	0.216149	0.23420	N	0.048375	T	0.80613	0.4656	L	0.36672	1.1	0.09310	N	1	D	0.63046	0.992	P	0.51355	0.667	T	0.69978	-0.4998	10	0.37606	T	0.19	.	6.2402	0.20787	0.0:0.2:0.0:0.8	.	2136	Q9UMN6	MLL4_HUMAN	H	2136	ENSP00000222270:L2136H;ENSP00000398837:L2136H	ENSP00000222270:L2136H	L	+	2	0	AD000671.1	40915697	0.001000	0.12720	0.077000	0.20336	0.289000	0.27227	0.821000	0.27338	1.797000	0.52628	0.374000	0.22700	CTC		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		A	36223857	T	A	36223857	3	1	239	1	0	0	0	0	1	0	0	0	9623	1551	54	5	6517	5	MLL4	19	36223857	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	15092168	36223857	22905126	75	16981											
TPTE	7179	broad.mit.edu	37	chr21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagattgtagactcgatagtGgtttcggtgtttcttatcta	8	18	10	5	2	2	2	0	0	2	2	4	3	2	2	0	2	0	3	0	2	5	8			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:10934961G>T	ENST00000361285.4	-	15	1161	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.H240N|TPTE_ENST00000298232.7_Missense_Mutation_p.H260N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	278	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCGATAGTGGTTTCGGTGT	0.348																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(832-834)Cac>Aac		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							257	229	238					21																	10934961		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934961G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.832C>A	21.37:g.10934961G>T	ENSP00000355208:p.His278Asn					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	p.H278N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1200	-			278			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.832C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.998	0.979327	0.18812	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.27402	1.67;1.67;1.67	2.25	1.34	0.21922	Phosphatase tensin type (1);	0.111614	0.64402	U	0.000010	T	0.28433	0.0703	M	0.66506	2.035	0.43103	D	0.994798	P;P;P	0.40032	0.537;0.699;0.587	B;B;B	0.41174	0.237;0.237;0.349	T	0.03641	-1.1017	10	0.41790	T	0.15	-28.4415	4.6427	0.12558	0.1905:0.0:0.8095:0.0	.	240;260;278	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	260;278;240	ENSP00000298232:H260N;ENSP00000355208:H278N;ENSP00000344441:H240N	ENSP00000298232:H260N	H	-	1	0	TPTE	9956832	1.000000	0.71417	0.055000	0.19348	0.113000	0.19764	7.162000	0.77515	0.515000	0.28320	0.194000	0.17425	CAC		0.348	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10934961	G	T	10934961	3	4	239	1	0	0	0	0	1	0	0	0	16427	1348	47	5	863	5	TPTE	21	10934961	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		10934961	37194934	76	16982											
C21orf7	56911	broad.mit.edu	37	chr21	30547106	30547106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctggttcgggaattcGaggctctgacggaggagaat	9	9	16	7	3	1	3	0	2	1	1	3	7	1	5	0	5	1	3	0	5	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:30547106G>A	ENST00000399947.2	+	9	899	c.622G>A	c.(622-624)Gag>Aag	p.E208K	MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.E208K|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.E102K|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.E108K	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	208						cytosol (GO:0005829)|nucleus (GO:0005634)											TCGGGAATTCGAGGCTCTGAC	0.517																																						uc002ynf.3																			0		p.F207F(1)		ovary(2)|prostate(1)	3						c.(622-624)Gag>Aag		Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.							122	114	117					21																	30547106		2203	4300	6503	SO:0001583	missense	56911					cytosol|nucleus	protein binding	g.chr21:30547106G>A	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.622G>A	21.37:g.30547106G>A	ENSP00000382828:p.Glu208Lys					C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Missense_Mutation_p.E208K|C21orf7_uc010glo.3_Missense_Mutation_p.E53K|C21orf7_uc002yng.3_Missense_Mutation_p.E108K|C21orf7_uc010glp.3_Non-coding_Transcript	p.E208K	NM_020152	NP_064537	P57077	TAK1L_HUMAN		Colorectal(56;0.248)	8	899	+			208					D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.622G>A	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946886	0.18356	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.45276	0.9;0.9	4.06	4.06	0.47325	.	0.269260	0.35903	N	0.002911	T	0.24122	0.0584	N	0.19112	0.55	0.36726	D	0.881458	P;P	0.51537	0.938;0.946	B;B	0.41894	0.124;0.369	T	0.17623	-1.0363	10	0.02654	T	1	-20.5512	13.43	0.61049	0.0:0.0:0.8422:0.1578	.	108;208	B0EVZ8;P57077	.;TAK1L_HUMAN	K	102;208;108;108;208;108;108;108;108	ENSP00000343212:E208K;ENSP00000382828:E208K	ENSP00000345777:E108K	E	+	1	0	C21orf7	29468977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.778000	0.62368	2.535000	0.85469	0.650000	0.86243	GAG		0.517	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		A	30547106	G	A	30547106	3	1	239	1	0	0	0	0	1	0	0	0	2132	1059	37	2	648	2	C21orf7	21	30547106	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	19612145	30547106	17582789	77	16983											
SON	6651	broad.mit.edu	37	chr21	34925244	34925244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcagtgtcagcatcagAtccctcagttttagtatcag	10	15	7	9	0	5	1	5	0	0	1	6	1	6	1	1	0	1	3	1	0	3	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:34925244A>G	ENST00000356577.4	+	3	4182	c.3707A>G	c.(3706-3708)gAt>gGt	p.D1236G	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.D1236G|SON_ENST00000381679.4_Missense_Mutation_p.D1236G|SON_ENST00000300278.4_Missense_Mutation_p.D1236G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1236					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCAGCATCAGATCCCTCAGTT	0.478																																						uc002yse.1																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3706-3708)gAt>gGt		Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.							146	151	150					21																	34925244		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34925244A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3707A>G	21.37:g.34925244A>G	ENSP00000348984:p.Asp1236Gly					SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.3_Missense_Mutation_p.D1236G|SON_uc002ysd.3_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.D882G|SON_uc002ysg.3_Missense_Mutation_p.D227G	p.D1236G	NM_138927	NP_620305	P18583	SON_HUMAN			2	3756	+			1236					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.3707A>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.28|17.28	3.349151|3.349151	0.61183|0.61183	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.12774|.	2.84;2.84;2.83;2.65|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.280929|.	0.25433|.	N|.	0.030714|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.29212|0.29212	N|N	0.874481|0.874481	P;P;B;P;P|.	0.45078|.	0.775;0.85;0.027;0.775;0.629|.	B;B;B;B;B|.	0.42282|.	0.382;0.197;0.035;0.382;0.382|.	T|T	0.19160|0.19160	-1.0314|-1.0314	10|5	0.66056|.	D|.	0.02|.	.|.	13.4258|13.4258	0.61024|0.61024	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1236;1236;917;1236;1236|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	G|V	1236|231	ENSP00000348984:D1236G;ENSP00000290239:D1236G;ENSP00000300278:D1236G;ENSP00000371095:D1236G|.	ENSP00000290239:D1236G|.	D|I	+|+	2|1	0|0	SON|SON	33847114|33847114	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	4.993000|4.993000	0.63895|0.63895	2.062000|2.062000	0.61559|0.61559	0.460000|0.460000	0.39030|0.39030	GAT|ATC		0.478	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34925244	A	G	34925244	3	3	239	1	0	0	0	0	1	0	0	0	14926	333	12	4	3717	4	SON	21	34925244	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	4378138	34925244	13204651	78	16984											
TRAPPC10	7109	broad.mit.edu	37	chr21	45503036	45503036	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactgggattatctgcagAaacgtccacatgctcctgag	11	9	10	11	2	1	2	0	1	1	1	3	4	3	3	2	1	3	2	2	1	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:45503036A>G	ENST00000291574.4	+	14	2266	c.2091A>G	c.(2089-2091)agA>agG	p.R697R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	697					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTATCTGCAGAAACGTCCACA	0.547																																						uc002zea.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2089-2091)agA>agG		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							76	74	75					21																	45503036		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503036A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2091A>G	21.37:g.45503036A>G						TRAPPC10_uc010gpo.3_Silent_p.R408R|TRAPPC10_uc011afa.2_Silent_p.R116R	p.R697R	NM_003274	NP_003265	P48553	TPC10_HUMAN			13	2260	+			697					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2091A>G	CCDS13704.1																																																																																				0.547	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		G	45503036	A	G	45503036	2	3	239	1	0	0	0	0	0	0	0	1	16454	243	9	4		4	TRAPPC10	21	45503036	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	10577792	45503036	2626859	79	16985											
COL6A2	1292	broad.mit.edu	37	chr21	47531965	47531965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaccatgcagtcccccaCggacatcctgctcttccaca	8	8	6	19	2	2	0	1	0	1	0	5	1	5	1	5	1	2	2	5	1	0	1	rs201094892	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:47531965C>T	ENST00000300527.4	+	3	292	c.188C>T	c.(187-189)aCg>aTg	p.T63M	COL6A2_ENST00000357838.4_Missense_Mutation_p.T63M|COL6A2_ENST00000310645.5_Missense_Mutation_p.T63M|COL6A2_ENST00000409416.1_Missense_Mutation_p.T63M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T63M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	63	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.T63M(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTCCCCCACGGACATCCTG	0.612													C|||	7	0.00139776	0.0023	0	5008	,	,		12985	0.001		0.001	False		,,,				2504	0.002					uc002zia.1																			3	Substitution - Missense(3)	p.T63M(4)	endometrium(3)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(187-189)aCg>aTg		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							109	75	87					21																	47531965		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47531965C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.188C>T	21.37:g.47531965C>T	ENSP00000300527:p.Thr63Met					COL6A2_uc002zhz.1_Missense_Mutation_p.T63M|COL6A2_uc002zhy.1_Missense_Mutation_p.T63M	p.T63M	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	270	+	Breast(49;0.245)		63			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.188C>T	CCDS13728.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.024	0.760296	0.15914	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.34	0.924	0.19418	von Willebrand factor, type A (3);	0.253908	0.39475	N	0.001350	T	0.64962	0.2646	N	0.08118	0	0.29214	N	0.874385	D;D;D	0.64830	0.988;0.994;0.964	P;P;P	0.56398	0.797;0.681;0.536	T	0.60500	-0.7251	10	0.37606	T	0.19	-13.2612	5.6992	0.17873	0.0:0.3376:0.0:0.6624	.	63;63;63	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	63	ENSP00000300527:T63M;ENSP00000350497:T63M;ENSP00000312529:T63M;ENSP00000390418:T63M;ENSP00000387115:T63M;ENSP00000380870:T63M	ENSP00000300527:T63M	T	+	2	0	COL6A2	46356393	0.680000	0.27605	0.445000	0.26908	0.158000	0.22134	1.708000	0.37899	0.411000	0.25702	0.467000	0.42956	ACG		0.612	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47531965	C	T	47531965	3	4	239	1	0	0	0	0	1	0	0	0	3700	536	19	1	194	1	COL6A2	21	47531965	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	2028929	47531965	597930	80	16986											
YDJC	150223	broad.mit.edu	37	chr22	21984158	21984158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgggccagctccgccGcgctctccgtggccgcaccg	3	5	13	20	7	1	0	0	0	1	0	3	0	2	0	7	2	2	3	7	2	0	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:21984158G>A	ENST00000292778.6	-	1	195	c.146C>T	c.(145-147)gCg>gTg	p.A49V	CCDC116_ENST00000292779.3_5'Flank|CCDC116_ENST00000607942.1_5'Flank|YDJC_ENST00000398873.3_Missense_Mutation_p.A49V	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	49					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAGCTCCGCCGCGCTCTCCGT	0.731																																						uc002zvb.2																			0											c.(145-147)gCg>gTg		Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.							9	10	10					22																	21984158		2159	4241	6400	SO:0001583	missense	150223				carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	g.chr22:21984158G>A		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.146C>T	22.37:g.21984158G>A	ENSP00000292778:p.Ala49Val					YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.3_5'Flank	p.A49V	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN			0	183	-	Colorectal(54;0.105)		49					Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	c.146C>T	CCDS33613.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.017155	0.75161	.	.	ENSG00000161179	ENST00000292778;ENST00000398873	T;T	0.56275	0.47;0.47	4.29	4.29	0.51040	Polysaccharide deacetylase (1);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.91872	3.25	0.48571	D	0.999674	D;D	0.89917	0.999;1.0	P;D	0.79108	0.866;0.992	T	0.83131	-0.0113	10	0.87932	D	0	-20.3873	14.6937	0.69103	0.0:0.0:1.0:0.0	.	49;49	A8MPS7-2;A8MPS7	.;YDJC_HUMAN	V	49	ENSP00000292778:A49V;ENSP00000381847:A49V	ENSP00000292778:A49V	A	-	2	0	YDJC	20314158	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	6.538000	0.73852	2.384000	0.81235	0.639000	0.83563	GCG		0.731	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			A	21984158	G	A	21984158	3	1	239	1	0	0	0	0	1	0	0	0	17468	1087	38	1	845	1	YDJC	22	21984158	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		21984158	29320408	81	16987											
TYMP	1890	broad.mit.edu	37	chr22	50967631	50967631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacccacaccccctgtGgaatgcttgtccacaagctg	8	10	8	15	0	1	0	1	0	0	0	2	1	2	1	4	1	2	2	4	1	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:50967631G>A	ENST00000252029.3	-	3	513	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Silent_p.S117S|TYMP_ENST00000395681.1_Silent_p.S117S|TYMP_ENST00000395680.1_Silent_p.S117S	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	117					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CACCCCCTGTGGAATGCTTGT	0.637																																						uc003bme.4																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(349-351)tcC>tcT		Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						53	51	51					22																	50967631		2203	4300	6503	SO:0001819	synonymous_variant	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967631G>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.351C>T	22.37:g.50967631G>A						SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Silent_p.S117S|TYMP_uc003bmc.4_Silent_p.S117S|TYMP_uc010hbd.3_Silent_p.S117S|TYMP_uc003bmd.4_Silent_p.S117S|TYMP_uc011arz.1_Silent_p.S117S	p.S117S	NM_001953	NP_001944	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	543	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	117					A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	c.351C>T	CCDS14096.1																																																																																				0.637	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		A	50967631	G	A	50967631	2	1	239	1	0	0	0	0	0	0	0	1	16808	1335	47	3		3	TYMP	22	50967631	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	28983473	50967631	336935	82	16988											
FAM9A	171482	broad.mit.edu	37	chrX	8766427	8766427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcatctttttcagcaaaaGgttctctttccccatgctca	8	16	5	12	0	5	0	3	0	2	0	7	0	6	0	2	1	2	4	2	1	2	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:8766427G>T	ENST00000543214.1	-	4	449	c.314C>A	c.(313-315)cCt>cAt	p.P105H	FAM9A_ENST00000381003.3_Missense_Mutation_p.P105H	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	105						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCAGCAAAAGGTTCTCTTTC	0.423																																						uc022bsk.1																			0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(313-315)cCt>cAt		Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.							233	198	210					X																	8766427		2203	4300	6503	SO:0001583	missense	171482					nucleolus		g.chrX:8766427G>T		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.314C>A	X.37:g.8766427G>T	ENSP00000440163:p.Pro105His					FAM9A_uc004csg.3_Missense_Mutation_p.P105H	p.P105H	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN			3	450	-		Hepatocellular(5;0.219)	105					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.314C>A	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	g	1.723	-0.496115	0.04291	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.207	-0.413	0.12363	.	.	.	.	.	T	0.33702	0.0872	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.52793	0.709	T	0.20773	-1.0265	7	0.87932	D	0	.	.	.	.	.	105	Q8IZU1	FAM9A_HUMAN	H	105	.	ENSP00000370391:P105H	P	-	2	0	FAM9A	8726427	0.042000	0.20092	0.007000	0.13788	0.007000	0.05969	-0.583000	0.05807	-0.768000	0.04626	-0.757000	0.03467	CCT		0.423	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		T	8766427	G	T	8766427	3	4	239	1	0	0	0	0	1	0	0	0	5659	1000	35	5	708	5	FAM9A	23	8766427	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		8766427	146504133	83	16989											
MED14	9282	broad.mit.edu	37	chrX	40562700	40562700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttagtaacttaccaagTccataaagcatcaattgaaa	17	12	4	8	0	2	1	2	1	0	0	3	1	3	1	2	0	3	2	2	0	8	6			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:40562700T>C	ENST00000324817.1	-	11	1525	c.1407A>G	c.(1405-1407)ggA>ggG	p.G469G		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	469	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTTACCAAGTCCATAAAGCA	0.303																																						uc004dex.4																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1405-1407)ggA>ggG		Homo sapiens mediator complex subunit 14 (MED14), mRNA.							45	42	43					X																	40562700		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40562700T>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1407A>G	X.37:g.40562700T>C							p.G469G	NM_004229	NP_004220	O60244	MED14_HUMAN			10	1547	-			469			Interaction with STAT2.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.1407A>G	CCDS14254.1																																																																																				0.303	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		C	40562700	T	C	40562700	2	2	239	1	0	0	0	0	0	0	0	1	9432	1654	58	4		4	MED14	23	40562700	Silent	SNP	T	TCGA-32-4213-01A-01D-1353-08	31796273	40562700	114707860	84	16990											
PFKFB1	5207	broad.mit.edu	37	chrX	54986282	54986282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgaccttcctcatggCtgagatagttgtgaacatcc	11	11	8	11	0	1	3	1	3	0	1	3	4	3	3	3	1	2	2	3	1	3	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:54986282C>T	ENST00000375006.3	-	4	432	c.362G>A	c.(361-363)aGc>aAc	p.S121N	PFKFB1_ENST00000374992.2_Missense_Mutation_p.S99N|PFKFB1_ENST00000545676.1_Missense_Mutation_p.S56N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	121	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCCTCATGGCTGAGATAGTT	0.433																																						uc004dty.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(361-363)aGc>aAc		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.							45	40	42					X																	54986282		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54986282C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.362G>A	X.37:g.54986282C>T	ENSP00000364145:p.Ser121Asn					PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	p.S121N	NM_002625	NP_002616	P16118	F261_HUMAN			3	433	-			121			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.362G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441597	0.25900	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.95	4.09	0.47781	6-phosphofructo-2-kinase (1);	0.149549	0.56097	D	0.000036	T	0.27489	0.0675	N	0.25286	0.73	0.21105	N	0.999784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.21008	-1.0258	9	0.66056	D	0.02	-12.3684	7.7823	0.29072	0.0:0.7484:0.1595:0.0921	.	56;99;121	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	N	121;56;99	.	ENSP00000364131:S99N	S	-	2	0	PFKFB1	55003007	0.035000	0.19736	0.884000	0.34674	0.023000	0.10783	2.202000	0.42743	1.014000	0.39417	-0.191000	0.12829	AGC		0.433	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			T	54986282	C	T	54986282	3	4	239	1	0	0	0	0	1	0	0	0	11760	797	28	3	1097	3	PFKFB1	23	54986282	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	14423582	54986282	100284278	85	16991											
SPIN3	169981	broad.mit.edu	37	chrX	57020821	57020821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattggaatcttgaaggatgCggaggtcaccatctttataa	12	12	10	7	1	3	1	1	1	2	0	3	4	3	4	1	4	1	0	1	4	4	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:57020821C>T	ENST00000374919.3	-	2	882	c.560G>A	c.(559-561)cGc>cAc	p.R187H		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	187					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTGAAGGATGCGGAGGTCACC	0.443																																						uc022bxv.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(559-561)cGc>cAc		Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.							81	79	80					X																	57020821		2113	4231	6344	SO:0001583	missense	169981				gamete generation			g.chrX:57020821C>T	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.560G>A	X.37:g.57020821C>T	ENSP00000364054:p.Arg187His					SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Missense_Mutation_p.R187H|SPIN3_uc004dux.1_Missense_Mutation_p.R187H	p.R187H	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			0	560	-			187					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.560G>A	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	0.842	-0.741696	0.03088	.	.	ENSG00000204271	ENST00000374919	T	0.47869	0.83	2.72	-1.63	0.08345	.	0.090297	0.44483	U	0.000449	T	0.28200	0.0696	L	0.37507	1.11	0.28587	N	0.909834	B	0.20887	0.049	B	0.13407	0.009	T	0.28427	-1.0044	10	0.12430	T	0.62	-0.0322	7.771	0.29008	0.0:0.5287:0.0:0.4713	.	187	Q5JUX0	SPIN3_HUMAN	H	187	ENSP00000364054:R187H	ENSP00000364054:R187H	R	-	2	0	SPIN3	57037546	1.000000	0.71417	0.001000	0.08648	0.054000	0.15201	1.095000	0.30964	-0.586000	0.05898	0.600000	0.82982	CGC		0.443	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		T	57020821	C	T	57020821	3	4	239	1	0	0	0	0	1	0	0	0	15054	768	27	1	220	1	SPIN3	23	57020821	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	2034539	57020821	98249739	86	16992											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722249	64722249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttctccaaactgaacatCaacagcatgcataaccgaga	16	7	6	12	1	2	2	1	1	1	1	3	4	2	2	2	0	6	2	2	0	4	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:64722249C>T	ENST00000338957.4	+	5	1738	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ZC3H12B_ENST00000423889.3_Silent_p.I546I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	557							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGAACATCAACAGCATGC	0.483																																						uc010nko.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1669-1671)atC>atT		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							43	42	42					X																	64722249		1931	4121	6052	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722249C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1671C>T	X.37:g.64722249C>T							p.I557I	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1738	+			546					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1671C>T	CCDS48131.2																																																																																				0.483	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		T	64722249	C	T	64722249	2	4	239	1	0	0	0	0	0	0	0	1	17559	816	29	3		3	ZC3H12B	23	64722249	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	7701428	64722249	90548311	87	16993											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177514	89177514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccgaggcgtctgtgccgGccaagtcagggcccagtggt	6	6	16	13	3	2	0	1	0	1	0	2	1	2	0	4	4	1	1	4	4	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:89177514G>A	ENST00000561129.2	+	1	560	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A144T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GTCTGTGCCGGCCAAGTCAGG	0.582																																						uc022bzr.1																			0		p.P143S(1)|p.P143Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(430-432)Gcc>Acc		Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.							61	59	60					X																	89177514		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177514G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.430G>A	X.37:g.89177514G>A	ENSP00000453704:p.Ala144Thr					TGIF2LX_uc004efe.3_Missense_Mutation_p.A144T	p.A144T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			0	430	+			144					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.430G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979507	0.18812	.	.	ENSG00000153779	ENST00000283891	T	0.64803	-0.12	2.8	-1.17	0.09648	.	13.163000	0.00644	U	0.000535	T	0.58708	0.2141	M	0.77103	2.36	0.09310	N	1	P	0.45126	0.851	B	0.37550	0.253	T	0.49504	-0.8933	9	.	.	.	-2.8934	2.6371	0.04961	0.4328:0.0:0.3479:0.2194	.	144	Q8IUE1	TF2LX_HUMAN	T	144	ENSP00000355119:A144T	.	A	+	1	0	TGIF2LX	89064170	0.006000	0.16342	0.001000	0.08648	0.020000	0.10135	0.623000	0.24447	-0.469000	0.06911	0.506000	0.49869	GCC		0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		A	89177514	G	A	89177514	3	1	239	1	0	0	0	0	1	0	0	0	15824	1203	42	3	432	3	TGIF2LX	23	89177514	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	24455265	89177514	66093046	88	16994											
NRK	203447	broad.mit.edu	37	chrX	105181458	105181458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgttgggaacccgatCtaatctatatctgatggaca	10	14	9	8	1	3	1	0	1	3	0	3	4	3	3	1	2	2	2	1	2	4	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:105181458C>A	ENST00000243300.9	+	22	3986	c.3683C>A	c.(3682-3684)tCt>tAt	p.S1228Y	NRK_ENST00000428173.2_Missense_Mutation_p.S1229Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1228	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCGATCTAATCTATAT	0.353										HNSCC(51;0.14)																												uc004emd.3																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3682-3684)tCt>tAt		Homo sapiens Nik related kinase (NRK), mRNA.							65	56	58					X																	105181458		1847	4079	5926	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105181458C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3683C>A	X.37:g.105181458C>A	ENSP00000434830:p.Ser1228Tyr	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.S896Y	p.S1228Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			21	3986	+			1228			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3683C>A		.	.	.	.	.	.	.	.	.	.	C	15.99	2.995799	0.54147	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.05081	3.5;3.5	5.55	3.55	0.40652	Citron-like (2);	0.000000	0.42420	D	0.000720	T	0.16128	0.0388	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.998;0.995	D;D	0.69654	0.965;0.944	T	0.00978	-1.1493	10	0.87932	D	0	.	8.6458	0.34005	0.2708:0.5926:0.1365:0.0	.	896;1228	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Y	1228;1229	ENSP00000434830:S1228Y;ENSP00000438378:S1229Y	ENSP00000434830:S1228Y	S	+	2	0	NRK	105068114	1.000000	0.71417	0.903000	0.35520	0.997000	0.91878	1.732000	0.38146	2.322000	0.78497	0.594000	0.82650	TCT		0.353	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105181458	C	A	105181458	3	1	239	1	0	0	0	0	1	0	0	0	10655	913	32	5	3769	5	NRK	23	105181458	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	16003944	105181458	50089102	89	16995											
COL4A6	1288	broad.mit.edu	37	chrX	107404862	107404862	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaccttcaaatcctggAgggccttgcagtccaggcag	10	8	11	12	0	2	1	2	0	0	1	4	2	4	2	4	3	1	2	4	3	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:107404862A>G	ENST00000372216.4	-	42	4423	c.4323T>C	c.(4321-4323)ccT>ccC	p.P1441P	COL4A6_ENST00000545689.1_Silent_p.P1416P|COL4A6_ENST00000538570.1_Silent_p.P1383P|COL4A6_ENST00000394872.2_Silent_p.P1441P|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000334504.7_Silent_p.P1440P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1441	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAAATCCTGGAGGGCCTTGCA	0.607									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4321-4323)ccT>ccC		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							31	35	34					X																	107404862		2202	4297	6499	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107404862A>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4323T>C	X.37:g.107404862A>G						COL4A6_uc004env.4_Silent_p.P1440P|COL4A6_uc011msn.2_Silent_p.P1416P|COL4A6_uc010npk.3_Silent_p.P1383P|COL4A6_uc011msm.1_5'Flank	p.P1441P	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			41	4426	-			1441			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.4323T>C	CCDS14541.1																																																																																				0.607	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			G	107404862	A	G	107404862	2	3	239	1	0	0	0	0	0	0	0	1	3695	291	11	4		4	COL4A6	23	107404862	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	2223404	107404862	47865698	90	16996											
FUCA1	2517	broad.mit.edu	37	chr1	24186383	24186383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatcagaccagatcagatCaggtttatagctggaagaca	14	8	9	10	0	3	4	3	0	0	4	3	5	3	5	2	2	1	2	2	2	3	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:24186383C>G	ENST00000374479.3	-	4	680	c.673G>C	c.(673-675)Gat>Cat	p.D225H		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	225					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGATCAGATCAGGTTTATAG	0.403																																						uc001bie.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(673-675)Gat>Cat		Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.							102	92	96					1																	24186383		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24186383C>G	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.673G>C	1.37:g.24186383C>G	ENSP00000363603:p.Asp225His					FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	p.D225H	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	3	756	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	225					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.673G>C	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402679	0.83230	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.62639	0.01	6.04	6.04	0.98038	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.084820	0.85682	D	0.000000	T	0.78253	0.4254	M	0.90198	3.095	0.80722	D	1	P	0.41910	0.764	P	0.47573	0.55	T	0.79408	-0.1816	10	0.48119	T	0.1	-9.288	20.5948	0.99439	0.0:1.0:0.0:0.0	.	225	P04066	FUCO_HUMAN	H	225;14	ENSP00000363603:D225H	ENSP00000363599:D14H	D	-	1	0	FUCA1	24058970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.340000	0.79292	2.873000	0.98535	0.563000	0.77884	GAT		0.403	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		G	24186383	C	G	24186383	3	3	240	1	0	0	0	0	1	0	0	0	6094	826	29	5	747	5	FUCA1	1	24186383	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		24186383	225064238	1	16997											
PODN	127435	broad.mit.edu	37	chr1	53544261	53544261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttccagggcctcaagcGgttgcacacggtgcacctgt	6	8	13	14	2	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	1	2	rs138913141		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:53544261G>A	ENST00000312553.5	+	8	1230	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	PODN_ENST00000395871.2_Missense_Mutation_p.R266Q|PODN_ENST00000371500.3_Missense_Mutation_p.R389Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	360					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCTCAAGCGGTTGCACACG	0.647																																						uc001cuv.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1222-1224)cGg>cAg		Homo sapiens podocan (PODN), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	60	56	57		1166,1166,797,1223	-0.1	1	1	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense,missense,missense	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	389/643,389/643,266/520,408/662	53544261	1,13005	2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544261G>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1223G>A	1.37:g.53544261G>A	ENSP00000308315:p.Arg408Gln					PODN_uc010onr.2_Missense_Mutation_p.R389Q|PODN_uc010ons.2_Missense_Mutation_p.R266Q|PODN_uc001cuw.3_Missense_Mutation_p.R389Q	p.R408Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			7	1391	+			360					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1223G>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716244	0.48622	2.27E-4	0.0	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.57595	0.39;0.39;0.39	4.81	-0.107	0.13592	.	0.456979	0.21202	N	0.078445	T	0.30324	0.0761	N	0.20845	0.615	0.26164	N	0.979966	P;P;P	0.52692	0.955;0.893;0.66	B;B;B	0.42593	0.392;0.3;0.149	T	0.39901	-0.9591	10	0.11485	T	0.65	.	8.7388	0.34545	0.7537:0.0:0.2463:0.0	.	266;389;408	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	Q	389;266;408	ENSP00000360555:R389Q;ENSP00000379212:R266Q;ENSP00000308315:R408Q	ENSP00000308315:R408Q	R	+	2	0	PODN	53316849	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	3.544000	0.53640	-0.050000	0.13356	0.555000	0.69702	CGG		0.647	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		A	53544261	G	A	53544261	3	1	240	1	0	0	0	0	1	0	0	0	12178	1116	39	2	1253	2	PODN	1	53544261	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	29357878	53544261	195706360	2	16998											
INADL	10207	broad.mit.edu	37	chr1	62299351	62299351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaatatggatgtcaataCtgaagaagatgatgatgggg	15	9	12	5	0	1	5	1	3	0	2	1	6	1	6	1	3	1	0	1	3	6	2	rs112258254	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:62299351C>G	ENST00000371158.2	+	17	2120	c.2006C>G	c.(2005-2007)aCt>aGt	p.T669S	INADL_ENST00000316485.6_Missense_Mutation_p.T669S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	669					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGTCAATACTGAAGAAGAT	0.363																																						uc001dab.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(2005-2007)aCt>aGt		Homo sapiens InaD-like (Drosophila) (INADL), mRNA.							126	120	122					1																	62299351		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62299351C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2006C>G	1.37:g.62299351C>G	ENSP00000360200:p.Thr669Ser					INADL_uc009waf.1_Missense_Mutation_p.T669S|INADL_uc001daa.2_Missense_Mutation_p.T669S|INADL_uc001dad.3_Missense_Mutation_p.T366S|INADL_uc001dac.3_Non-coding_Transcript	p.T669S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			16	2120	+			669					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2006C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037498	0.00402	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13307	2.71;2.6	5.91	-2.21	0.06973	PDZ/DHR/GLGF (1);	1.111390	0.06722	N	0.775091	T	0.08802	0.0218	L	0.44542	1.39	0.09310	N	1	B;B;B	0.20887	0.037;0.049;0.026	B;B;B	0.22386	0.012;0.039;0.012	T	0.40421	-0.9564	10	0.02654	T	1	.	4.2604	0.10739	0.2359:0.4261:0.0:0.338	.	669;669;669	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	669	ENSP00000360200:T669S;ENSP00000326199:T669S	ENSP00000255202:T669S	T	+	2	0	INADL	62071939	0.029000	0.19370	0.000000	0.03702	0.102000	0.19082	0.735000	0.26115	-0.111000	0.12001	-0.269000	0.10298	ACT		0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62299351	C	G	62299351	3	3	240	1	0	0	0	0	1	0	0	0	7731	565	20	5	2068	5	INADL	1	62299351	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	8755090	62299351	186951270	3	16999											
TTC24	164118	broad.mit.edu	37	chr1	156554756	156554756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcagcacagcaggtGtccagcacaggtgagggtgg	11	4	17	9	0	0	1	0	1	0	0	1	2	1	2	1	5	4	4	1	5	1	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:156554756G>A	ENST00000368237.3	+	6	1339	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000478081.1_3'UTR|TTC24_ENST00000368236.3_Missense_Mutation_p.V447I			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	447										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGCAGGTGTCCAGCACAG	0.642																																						uc021pbf.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20						c.(1339-1341)Gtc>Atc		Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.							22	26	24					1																	156554756		2094	4226	6320	SO:0001583	missense	164118						binding	g.chr1:156554756G>A		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1339G>A	1.37:g.156554756G>A	ENSP00000357220:p.Val447Ile						p.V447I	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			6	1375	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		447					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.1339G>A	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524319	0.13066	.	.	ENSG00000187862	ENST00000368236;ENST00000368237;ENST00000413282	T;T	0.27557	1.66;1.66	3.61	0.483	0.16820	.	0.864473	0.09630	N	0.776365	T	0.05318	0.0141	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.40794	-0.9544	10	0.27785	T	0.31	-3.0E-4	3.3972	0.07310	0.2636:0.2166:0.5198:0.0	.	447	A2A3L6	TTC24_HUMAN	I	447;447;173	ENSP00000357219:V447I;ENSP00000357220:V447I	ENSP00000357219:V447I	V	+	1	0	TTC24	154821380	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.830000	0.27462	0.115000	0.18071	-0.258000	0.10820	GTC		0.642	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		A	156554756	G	A	156554756	3	1	240	1	0	0	0	0	1	0	0	0	16689	1377	48	3	1361	3	TTC24	1	156554756	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	94255405	156554756	92695865	4	17000											
ETV3L	440695	broad.mit.edu	37	chr1	157068529	157068529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccacgggcaccagcgctGgccgacacagggcaggggcc	8	1	15	17	3	0	0	0	0	0	0	0	1	0	0	4	5	1	3	4	5	0	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:157068529G>T	ENST00000454449.2	-	3	739	c.455C>A	c.(454-456)cCa>cAa	p.P152Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	152					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACCAGCGCTGGCCGACACAG	0.652																																						uc001fqq.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(454-456)cCa>cAa		Homo sapiens ets variant 3-like (ETV3L), mRNA.							37	41	40					1																	157068529		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068529G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.455C>A	1.37:g.157068529G>T	ENSP00000430271:p.Pro152Gln						p.P152Q	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			2	740	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	152						Missense_Mutation	SNP	ENST00000454449.2	37	c.455C>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615615	0.46631	.	.	ENSG00000253831	ENST00000454449	T	0.10005	2.92	4.3	4.3	0.51218	.	.	.	.	.	T	0.07683	0.0193	L	0.29908	0.895	0.25363	N	0.988762	D	0.67145	0.996	P	0.53649	0.731	T	0.14559	-1.0468	9	0.56958	D	0.05	.	11.8402	0.52350	0.0:0.0:0.8242:0.1758	.	152	Q6ZN32	ETV3L_HUMAN	Q	152	ENSP00000430271:P152Q	ENSP00000430271:P152Q	P	-	2	0	ETV3L	155335153	0.999000	0.42202	0.918000	0.36340	0.115000	0.19883	3.719000	0.54926	2.369000	0.80426	0.655000	0.94253	CCA		0.652	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		T	157068529	G	T	157068529	3	4	240	1	0	0	0	0	1	0	0	0	5280	1348	47	5	642	5	ETV3L	1	157068529	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	513773	157068529	92182092	5	17001											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214763	204214763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcttggcggtgtccGtgccccgggaggggttgttc	1	12	17	11	3	1	0	0	0	1	0	3	1	2	1	3	5	2	3	3	5	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:204214763G>A	ENST00000272203.3	-	14	2328	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T691M	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	671										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGTGTCCGTGCCCCGGGA	0.602																																						uc001hau.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2011-2013)aCg>aTg		Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.							106	92	97					1																	204214763		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204214763G>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2012C>T	1.37:g.204214763G>A	ENSP00000272203:p.Thr671Met					PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	p.T671M	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		13	2329	-	all_cancers(21;0.0222)|Breast(84;0.179)		671					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2012C>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537521	0.85917	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.34472	1.36;1.36	5.13	5.13	0.70059	.	0.423937	0.24076	N	0.041778	T	0.47395	0.1443	M	0.64997	1.995	0.58432	D	0.999999	D	0.65815	0.995	P	0.49387	0.609	T	0.48175	-0.9058	10	0.46703	T	0.11	-4.5286	18.1806	0.89776	0.0:0.0:1.0:0.0	.	671	Q9Y2H5	PKHA6_HUMAN	M	671;691	ENSP00000272203:T671M;ENSP00000402046:T691M	ENSP00000272203:T671M	T	-	2	0	PLEKHA6	202481386	1.000000	0.71417	0.993000	0.49108	0.883000	0.51084	7.206000	0.77891	2.406000	0.81754	0.563000	0.77884	ACG		0.602	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		A	204214763	G	A	204214763	3	1	240	1	0	0	0	0	1	0	0	0	12060	1145	40	1	1170	1	PLEKHA6	1	204214763	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	47146234	204214763	45035858	6	17002											
OR2T12	127064	broad.mit.edu	37	chr1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcagcacaagccaaaCgcaccaacacgggggcctcg	13	3	11	14	3	1	0	1	0	0	0	2	0	1	0	3	2	4	2	3	2	4	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:248458330C>T	ENST00000317996.1	-	1	550	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552																																						uc010pzj.2																			0		p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(550-552)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.							174	131	145					1																	248458330		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458330C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.551G>A	1.37:g.248458330C>T	ENSP00000324583:p.Arg184His						p.R184H	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		0	551	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		184						Missense_Mutation	SNP	ENST00000317996.1	37	c.551G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	10.09	1.253645	0.22965	.	.	ENSG00000177201	ENST00000317996	T	0.00137	8.68	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00073	0.0002	N	0.16066	0.365	0.09310	N	1	B	0.32188	0.359	B	0.29524	0.103	T	0.17137	-1.0379	10	0.52906	T	0.07	.	3.7402	0.08527	0.0:0.3871:0.2015:0.4114	.	184	Q8NG77	O2T12_HUMAN	H	184	ENSP00000324583:R184H	ENSP00000324583:R184H	R	-	2	0	OR2T12	246524953	0.000000	0.05858	0.067000	0.19924	0.380000	0.30137	-3.284000	0.00527	-0.207000	0.10187	0.175000	0.17021	CGT		0.552	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		T	248458330	C	T	248458330	3	4	240	1	0	0	0	0	1	0	0	0	11019	536	19	1	414	1	OR2T12	1	248458330	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	44243567	248458330	792291	7	17003											
PTPN18	26469	broad.mit.edu	37	chr2	131128796	131128796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccactctacgacgatGccctcttcctccggactccc	5	9	7	20	3	2	0	0	0	2	0	5	3	5	1	6	1	3	0	6	1	1	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:131128796G>A	ENST00000175756.5	+	12	1050	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PTPN18_ENST00000347849.3_Missense_Mutation_p.A210T	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	317					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CTACGACGATGCCCTCTTCCT	0.622																																						uc002trc.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(949-951)Gcc>Acc		Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.							90	86	87					2																	131128796		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131128796G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.949G>A	2.37:g.131128796G>A	ENSP00000175756:p.Ala317Thr					PTPN18_uc002trb.3_Missense_Mutation_p.A210T|PTPN18_uc002tre.3_5'Flank	p.A317T	NM_014369	NP_055184	Q99952	PTN18_HUMAN			11	1050	+	Colorectal(110;0.1)		317					B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.949G>A	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992132	0.74703	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.12774	3.46;2.65	3.95	3.06	0.35304	.	0.655780	0.12628	N	0.452460	T	0.16257	0.0391	L	0.50333	1.59	0.09310	N	1	P;D;D	0.55605	0.908;0.972;0.972	P;P;P	0.48304	0.449;0.573;0.573	T	0.10245	-1.0638	10	0.18276	T	0.48	.	9.226	0.37407	0.0:0.0:0.7858:0.2142	.	296;317;210	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	T	317;210;296	ENSP00000175756:A317T;ENSP00000310092:A210T	ENSP00000175756:A317T	A	+	1	0	PTPN18	130845266	0.083000	0.21467	0.043000	0.18650	0.518000	0.34316	2.040000	0.41203	1.218000	0.43458	0.591000	0.81541	GCC		0.622	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			A	131128796	G	A	131128796	3	1	240	1	0	0	0	0	1	0	0	0	12784	1319	46	3	995	3	PTPN18	2	131128796	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		131128796	112070577	8	17004											
LRP1B	53353	broad.mit.edu	37	chr2	141812781	141812781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagacagatgtgtgaacAgccccctggcattccatatg	11	9	11	10	0	0	3	0	1	0	2	1	4	1	3	3	1	2	2	3	1	3	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:141812781A>T	ENST00000389484.3	-	10	2427	c.1456T>A	c.(1456-1458)Tgt>Agt	p.C486S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	486	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTGTGAACAGCCCCCTGGC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0		p.G485fs*56(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1456-1458)Tgt>Agt		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							114	101	105					2																	141812781		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141812781A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1456T>A	2.37:g.141812781A>T	ENSP00000374135:p.Cys486Ser	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.C486S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2428	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	486					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1456T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233140	0.79688	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99252	-5.63	5.45	5.45	0.79879	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	D	0.99569	0.9845	H	0.94183	3.505	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	D	0.97929	1.0319	10	0.87932	D	0	.	15.5204	0.75862	1.0:0.0:0.0:0.0	.	486	Q9NZR2	LRP1B_HUMAN	S	486;424	ENSP00000374135:C486S	ENSP00000374135:C486S	C	-	1	0	LRP1B	141529251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.227000	0.95236	2.077000	0.62373	0.455000	0.32223	TGT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141812781	A	T	141812781	3	4	240	1	0	0	0	0	1	0	0	0	8955	188	7	5	12671	5	LRP1B	2	141812781	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08	10683985	141812781	101386592	9	17005											
TTN	7273	broad.mit.edu	37	chr2	179606204	179606204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgattctgtttcaGtgtctttgtgaccctctcct	4	17	7	13	0	4	2	1	2	3	0	5	2	4	2	3	0	1	2	3	0	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:179606204G>T	ENST00000591111.1	-	46	11029	c.10805C>A	c.(10804-10806)aCt>aAt	p.T3602N	TTN_ENST00000359218.5_Missense_Mutation_p.T3681N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3556N|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3748N|TTN_ENST00000589042.1_Missense_Mutation_p.T3919N|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13915					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTTTCAGTGTCTTTGTG	0.428																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							149	144	145					2																	179606204		1893	4109	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606204G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10805C>A	2.37:g.179606204G>T	ENSP00000465570:p.Thr3602Asn					TTN_uc021vsz.1_Missense_Mutation_p.T3748N|TTN_uc021vta.1_Missense_Mutation_p.T3681N|TTN_uc021vtb.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	G	6.810	0.518599	0.13005	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61859	0.13;0.08;0.07	5.87	0.582	0.17412	.	.	.	.	.	T	0.42017	0.1184	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41142	-0.9525	9	0.87932	D	0	.	1.7462	0.02962	0.1772:0.2614:0.3568:0.2046	.	3556;3681;3748	D3DPF9;E7EQE6;E7ET18	.;.;.	N	3556;3748;3681;3556	ENSP00000434586:T3556N;ENSP00000340554:T3748N;ENSP00000352154:T3681N	ENSP00000340554:T3748N	T	-	2	0	TTN	179314449	0.000000	0.05858	0.003000	0.11579	0.661000	0.39034	-0.035000	0.12205	0.224000	0.20940	0.655000	0.94253	ACT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179606204	G	T	179606204	3	4	240	1	0	0	0	0	1	0	0	0	16732	1029	36	5	93033	5	TTN	2	179606204	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	37793423	179606204	63593169	10	17006											
FN1	2335	broad.mit.edu	37	chr2	216232682	216232682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttcccactcatctccaaCggcataatgggaaactgtgt	10	11	8	12	2	2	0	1	0	1	0	5	1	3	1	2	2	2	2	2	2	3	2	rs191304573		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:216232682C>G	ENST00000359671.1	-	41	6914	c.6649G>C	c.(6649-6651)Gtt>Ctt	p.V2217L	FN1_ENST00000443816.1_Missense_Mutation_p.V2096L|FN1_ENST00000357867.4_Missense_Mutation_p.V2007L|FN1_ENST00000345488.5_Missense_Mutation_p.V2015L|FN1_ENST00000356005.4_Missense_Mutation_p.V2127L|FN1_ENST00000346544.3_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.V2161L|FN1_ENST00000421182.1_Missense_Mutation_p.V2071L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000432072.2_Missense_Mutation_p.V2098L|FN1_ENST00000323926.6_Missense_Mutation_p.V2277L|FN1_ENST00000336916.4_Missense_Mutation_p.V2186L|FN1_ENST00000354785.4_Missense_Mutation_p.V2308L			P02751	FINC_HUMAN	fibronectin 1	2217	Fibrin-binding 2.|Fibronectin type-I 10. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCATCTCCAACGGCATAATGG	0.438																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6922-6924)Gtt>Ctt		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141	121	128					2																	216232682		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216232682C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6649G>C	2.37:g.216232682C>G	ENSP00000352696:p.Val2217Leu					FN1_uc002vfc.3_Missense_Mutation_p.V2071L|FN1_uc002vfe.3_Missense_Mutation_p.V2186L|FN1_uc002vff.3_Missense_Mutation_p.V2161L|FN1_uc002vfg.3_Missense_Mutation_p.V2127L|FN1_uc002vfh.3_Missense_Mutation_p.V2007L|FN1_uc002vfi.3_Missense_Mutation_p.V2277L|FN1_uc002vfj.3_Missense_Mutation_p.V2098L|FN1_uc002vfb.3_Missense_Mutation_p.V2096L|FN1_uc002vez.3_Missense_Mutation_p.V471L|FN1_uc010zjp.2_Missense_Mutation_p.V845L|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	p.V2308L	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	41	7188	-		Renal(323;0.127)	2217			Fibrin-binding 2.|Fibronectin type-I 12.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6922G>C		.	.	.	.	.	.	.	.	.	.	C	11.66	1.703483	0.30232	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.75	-7.31	0.01441	Fibronectin, type I (4);Complement control module (1);	0.638346	0.15074	N	0.282016	T	0.41442	0.1159	L	0.42245	1.32	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.29378	0.003;0.048;0.003;0.003;0.243;0.177;0.025;0.02;0.02;0.002;0.112	B;B;B;B;B;B;B;B;B;B;B	0.38842	0.011;0.031;0.011;0.006;0.283;0.085;0.094;0.057;0.034;0.012;0.113	T	0.35773	-0.9775	10	0.54805	T	0.06	.	15.5956	0.76578	0.0:0.6641:0.0978:0.2381	.	2098;2277;2007;2127;2161;2186;2218;2071;2096;2308;2217	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	L	2071;2277;2186;2007;2308;2218;2217;2015;2161;2096;2098;2127;934	ENSP00000394423:V2071L;ENSP00000323534:V2277L;ENSP00000338200:V2186L;ENSP00000350534:V2007L;ENSP00000346839:V2308L;ENSP00000352696:V2217L;ENSP00000273049:V2015L;ENSP00000410422:V2161L;ENSP00000415018:V2096L;ENSP00000399538:V2098L;ENSP00000348285:V2127L;ENSP00000416139:V934L	ENSP00000265313:V2218L	V	-	1	0	FN1	215940927	0.030000	0.19436	0.536000	0.28039	0.025000	0.11179	-0.492000	0.06467	-1.377000	0.02123	-0.482000	0.04802	GTT		0.438	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		G	216232682	C	G	216232682	3	3	240	1	0	0	0	0	1	0	0	0	5962	536	19	5	531	5	FN1	2	216232682	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	36626478	216232682	26966691	11	17007											
PAX3	5077	broad.mit.edu	37	chr2	223066852	223066852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgagaggggagagcgCgtaatcagtctggggctgat	8	7	18	8	3	2	3	1	2	1	2	2	5	2	3	1	5	1	2	1	5	1	1	rs549206921		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:223066852C>T	ENST00000350526.4	-	8	1367	c.1231G>A	c.(1231-1233)Gcg>Acg	p.A411T	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409551.3_Missense_Mutation_p.A410T|PAX3_ENST00000392069.2_Missense_Mutation_p.A411T|PAX3_ENST00000392070.2_Missense_Mutation_p.A411T|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	411					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAGAGCGCGTAATCAGTC	0.547			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0		p.Y410Y(2)|p.A411E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1231-1233)Gcg>Acg		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							71	69	70					2																	223066852		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066852C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1231G>A	2.37:g.223066852C>T	ENSP00000343052:p.Ala411Thr					PAX3_uc002vmt.2_Missense_Mutation_p.A411T|PAX3_uc002vmy.2_Missense_Mutation_p.A410T|PAX3_uc002vmv.2_Missense_Mutation_p.A411T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	p.A411T	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1612	-		Renal(207;0.0183)	411					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1231G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518769	0.85495	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94576	-3.46;-3.45;-3.44;-3.45	5.81	5.81	0.92471	.	0.051283	0.85682	D	0.000000	D	0.94345	0.8182	L	0.46157	1.445	0.80722	D	1	P;D;D	0.61697	0.894;0.982;0.99	B;B;P	0.49332	0.217;0.383;0.607	D	0.93918	0.7203	10	0.49607	T	0.09	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	411;410;411	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	T	411;411;411;410;128	ENSP00000375921:A411T;ENSP00000343052:A411T;ENSP00000375922:A411T;ENSP00000386750:A410T	ENSP00000343052:A411T	A	-	1	0	PAX3	222775096	1.000000	0.71417	0.686000	0.30086	0.441000	0.31987	5.666000	0.68059	2.736000	0.93811	0.655000	0.94253	GCG		0.547	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223066852	C	T	223066852	3	4	240	1	0	0	0	0	1	0	0	0	11480	768	27	1	326	1	PAX3	2	223066852	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	6834170	223066852	20132521	12	17008											
KLHL30	377007	broad.mit.edu	37	chr2	239049594	239049594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtttgcgggtgacttcGccgagagcttctctgcgcgc	4	11	13	13	5	1	2	0	1	1	1	3	3	1	2	2	1	3	2	2	1	0	3	rs372812743		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:239049594G>A	ENST00000409223.1	+	2	306	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A49T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	67	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTGACTTCGCCGAGAGCTT	0.677																																						uc002vxr.2																			0				lung(4)	4						c.(199-201)Gcc>Acc		Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.		G	THR/ALA	0,4298		0,0,2149	91	103	99		199	3.9	0	2		99	1,8473		0,1,4236	no	missense	KLHL30	NM_198582.3	58	0,1,6385	AA,AG,GG		0.0118,0.0,0.0078	benign	67/579	239049594	1,12771	2149	4237	6386	SO:0001583	missense	377007							g.chr2:239049594G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.199G>A	2.37:g.239049594G>A	ENSP00000386389:p.Ala67Thr						p.A67T	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	306	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	67			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.199G>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028603	0.08054	0.0	1.18E-4	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.68479	-0.33;-0.33	5.75	3.89	0.44902	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.255981	0.39407	N	0.001376	T	0.49847	0.1581	L	0.41236	1.265	0.09310	N	1	B	0.18310	0.027	B	0.16722	0.016	T	0.29882	-0.9997	10	0.14252	T	0.57	.	5.202	0.15269	0.0762:0.241:0.5499:0.133	.	67	Q0D2K2	KLH30_HUMAN	T	67;49	ENSP00000386389:A67T;ENSP00000302386:A49T	ENSP00000302386:A49T	A	+	1	0	KLHL30	238714333	0.915000	0.31059	0.031000	0.17742	0.096000	0.18686	2.630000	0.46494	0.721000	0.32231	0.655000	0.94253	GCC		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		A	239049594	G	A	239049594	3	1	240	1	0	0	0	0	1	0	0	0	8384	1087	38	1	201	1	KLHL30	2	239049594	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	15982742	239049594	4149779	13	17009											
ANKRD28	23243	broad.mit.edu	37	chr3	15778600	15778600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgctcgatcagatacGtttacattactcagaagagg	11	11	8	11	2	2	3	2	0	0	3	4	4	3	3	1	1	4	2	1	1	4	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:15778600G>A	ENST00000399451.2	-	5	769	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ANKRD28_ENST00000383777.1_Silent_p.N167N|ANKRD28_ENST00000497037.1_5'UTR|RN7SL4P_ENST00000584058.1_RNA	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	134						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428																																						uc003caj.1																			0		p.T133R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(400-402)aaC>aaT		Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.							161	153	156					3																	15778600		1957	4152	6109	SO:0001819	synonymous_variant	23243					nucleoplasm	protein binding	g.chr3:15778600G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.402C>T	3.37:g.15778600G>A						ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc011avz.1_5'UTR|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	p.N134N	NM_015199	NP_001182028	O15084	ANR28_HUMAN			4	545	-			134					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	c.402C>T	CCDS46769.1																																																																																				0.428	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		A	15778600	G	A	15778600	2	1	240	1	0	0	0	0	0	0	0	1	656	1136	40	1		1	ANKRD28	3	15778600	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		15778600	182243830	14	17010											
BCL6	604	broad.mit.edu	37	chr3	187443315	187443315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggctccgcaggtttcgCatttgtagggcttctctcca	5	14	10	12	2	2	0	0	0	2	0	6	0	4	0	2	3	0	6	2	3	1	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:187443315C>T	ENST00000406870.2	-	8	2177	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.C604Y|BCL6_ENST00000450123.2_Missense_Mutation_p.C548Y|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	604					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCAGGTTTCGCATTTGTAGGG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	uc003frp.3				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1810-1812)tGc>tAc		Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.							102	106	104					3																	187443315		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187443315C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1811G>A	3.37:g.187443315C>T	ENSP00000384371:p.Cys604Tyr					LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.2_Missense_Mutation_p.C604Y	p.C604Y	NM_001130845	NP_001697	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	7	2268	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		604					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1811G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038398	0.93630	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	D;D;D	0.85088	-1.94;-1.94;-1.94	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.044332	0.85682	D	0.000000	D	0.95194	0.8442	H	0.95982	3.75	0.80722	D	1	D;P	0.76494	0.999;0.801	D;P	0.87578	0.998;0.635	D	0.96407	0.9301	10	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	548;604	B8PSA7;P41182	.;BCL6_HUMAN	Y	604;604;548	ENSP00000384371:C604Y;ENSP00000232014:C604Y;ENSP00000413122:C548Y	ENSP00000232014:C604Y	C	-	2	0	BCL6	188926009	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	TGC		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		T	187443315	C	T	187443315	3	4	240	1	0	0	0	0	1	0	0	0	1376	710	25	3	321	3	BCL6	3	187443315	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	171664715	187443315	10579115	15	17011											
TAPT1	202018	broad.mit.edu	37	chr4	16204132	16204132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctgaatagtgccaggaaAactcttaaaggaagcagggt	15	7	12	7	0	1	1	0	1	1	0	1	3	1	3	2	3	4	1	2	3	7	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr4:16204132A>G	ENST00000405303.2	-	3	485	c.402T>C	c.(400-402)gtT>gtC	p.V134V	TAPT1_ENST00000399920.3_Silent_p.V23V|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	134					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GTGCCAGGAAAACTCTTAAAG	0.353																																						uc010ied.1																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(400-402)gtT>gtC		Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.							39	38	38					4																	16204132		1843	4044	5887	SO:0001819	synonymous_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16204132A>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.402T>C	4.37:g.16204132A>G						TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.4_Intron	p.V134V	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN			2	483	-			134					Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	c.402T>C	CCDS47030.1																																																																																				0.353	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		G	16204132	A	G	16204132	2	3	240	1	0	0	0	0	0	0	0	1	15551	1	1	4		4	TAPT1	4	16204132	Silent	SNP	A	TCGA-32-4719-01A-01D-1353-08		16204132	174950144	16	17012											
EGFLAM	133584	broad.mit.edu	37	chr5	38463973	38463974	+	Frame_Shift_Ins	INS	-	-	T																															ctgcacactaacaggcaataINStatgagagggctcgtgggct																										TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:38463973_38463974insT	ENST00000354891.3	+	23	3285_3286	c.2939_2940insT	c.(2938-2943)tatatgfs	p.M981fs	EGFLAM_ENST00000397202.2_Frame_Shift_Ins_p.M339fs|CTD-2263F21.1_ENST00000510137.1_RNA|EGFLAM_ENST00000397210.3_Frame_Shift_Ins_p.M116fs|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.M973fs|EGFLAM_ENST00000506135.1_Frame_Shift_Ins_p.M116fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.M739fs|EGFLAM_ENST00000514476.1_Frame_Shift_Ins_p.M116fs	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	981	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AACAGGCAATATATGAGAGGGC	0.52																																					Colon(62;485 1295 3347 17454)	uc003jlc.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2938-2940)tatfs		Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38463973_38463974insT	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2940dupT	5.37:g.38463974_38463974dupT	ENSP00000346964:p.Met981fs					EGFLAM_uc003jlb.2_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.2_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.2_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.2_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.2_Frame_Shift_Ins_p.Y62fs	p.Y980fs	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN			22	3285_3286	+	all_lung(31;0.000385)		980			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	c.2939_2940insT	CCDS56363.1																																																																																				0.52	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		T	38463974	-	T	38463973	7	5	240	1	0	1	1	0	0	0	0	0	4966	449	16	0	3015	0	EGFLAM	5	38463973	Frame_Shift_Ins	INS	-	TCGA-32-4719-01A-01D-1353-08		38463973	142451287	17	17013											
BRD8	10902	broad.mit.edu	37	chr5	137476545	137476545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgacccttagagagatttCtcttcaggctagttaagtcc	9	13	8	11	1	2	2	1	0	1	2	5	4	4	2	3	1	0	2	3	1	3	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:137476545C>T	ENST00000254900.5	-	26	3835	c.3464G>A	c.(3463-3465)aGa>aAa	p.R1155K	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1155	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAGAGATTTCTCTTCAGGCT	0.428																																						uc003lcf.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3463-3465)aGa>aAa		Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.							220	219	219					5																	137476545		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137476545C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3464G>A	5.37:g.137476545C>T	ENSP00000254900:p.Arg1155Lys					NME5_uc003lce.3_5'Flank	p.R1155K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		25	3519	-			1155			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3464G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321699	0.23994	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.24908	1.83;1.83	5.96	5.96	0.96718	Bromodomain (5);	0.000000	0.56097	D	0.000032	T	0.08268	0.0206	N	0.01284	-0.91	0.80722	D	1	B	0.16603	0.018	B	0.15052	0.012	T	0.25257	-1.0137	10	0.02654	T	1	-8.5411	12.6808	0.56920	0.0:0.9256:0.0:0.0744	.	1155	Q9H0E9	BRD8_HUMAN	K	1155;261	ENSP00000254900:R1155K;ENSP00000392646:R261K	ENSP00000254900:R1155K	R	-	2	0	BRD8	137504444	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.848000	0.62874	2.832000	0.97577	0.655000	0.94253	AGA		0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		T	137476545	C	T	137476545	3	4	240	1	0	0	0	0	1	0	0	0	1506	913	32	3	251	3	BRD8	5	137476545	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	99012572	137476545	43438715	18	17014											
WDR46	9277	broad.mit.edu	37	chr6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttactcggtcacagcggcGgatacagtggagctcaatgc	9	9	13	10	3	2	0	2	0	0	0	3	2	2	2	0	4	5	2	0	4	3	2	rs141256696	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr6:33255194G>A	ENST00000374617.4	-	8	1173	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	273							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572																																						uc003ods.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(817-819)Cgc>Tgc		Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	95	90	92		655,817	4.4	1	6	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	WDR46	NM_001164267.1,NM_005452.5	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	219/557,273/611	33255194	4,13002	2203	4300	6503	SO:0001583	missense	9277							g.chr6:33255194G>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.817C>T	6.37:g.33255194G>A	ENSP00000363746:p.Arg273Cys					WDR46_uc011dra.2_Missense_Mutation_p.R219C|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc021ywk.1_5'Flank	p.R273C	NM_005452	NP_005443	O15213	WDR46_HUMAN			7	1174	-			273					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.817C>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332534	0.60853	9.08E-4	0.0	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.18502	4.94;2.21	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.124663	0.50627	D	0.000118	T	0.23210	0.0561	L	0.54323	1.7	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.69654	0.964;0.965	T	0.00888	-1.1526	10	0.87932	D	0	-16.3035	9.7563	0.40504	0.0:0.0:0.7942:0.2058	.	219;273	B4DP15;O15213	.;WDR46_HUMAN	C	273;200	ENSP00000363746:R273C;ENSP00000405568:R200C	ENSP00000363746:R273C	R	-	1	0	WDR46	33363172	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	3.728000	0.54991	2.278000	0.76064	0.549000	0.68633	CGC		0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		A	33255194	G	A	33255194	3	1	240	1	0	0	0	0	1	0	0	0	17296	1116	39	2	1047	2	WDR46	6	33255194	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		33255194	137859873	19	17015											
MACC1	346389	broad.mit.edu	37	chr7	20199676	20199676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctatttctctacagAaaagaaaaggatcttccttt	13	16	4	8	0	3	2	0	0	3	2	5	3	4	3	1	1	1	0	1	1	6	7			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20199676A>G	ENST00000400331.5	-	5	616	c.308T>C	c.(307-309)tTc>tCc	p.F103S	MACC1_ENST00000332878.4_Missense_Mutation_p.F103S|MACC1_ENST00000589011.1_Missense_Mutation_p.F103S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	103					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTCTACAGAAAAGAAAAGG	0.348																																						uc003sus.4																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(307-309)tTc>tCc		Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.							38	39	39					7																	20199676		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199676A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.308T>C	7.37:g.20199676A>G	ENSP00000383185:p.Phe103Ser					MACC1_uc010kug.3_Missense_Mutation_p.F103S	p.F103S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			4	617	-			103					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.308T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	3.748	-0.052221	0.07362	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09723	2.95;2.95	5.97	5.97	0.96955	.	0.164918	0.56097	D	0.000037	T	0.18593	0.0446	L	0.52364	1.645	0.31125	N	0.708445	D	0.60160	0.987	P	0.53912	0.737	T	0.05131	-1.0904	10	0.08179	T	0.78	-21.8893	16.4534	0.84003	1.0:0.0:0.0:0.0	.	103	Q6ZN28	MACC1_HUMAN	S	103	ENSP00000383185:F103S;ENSP00000328410:F103S	ENSP00000328410:F103S	F	-	2	0	MACC1	20166201	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	3.926000	0.56491	2.285000	0.76669	0.477000	0.44152	TTC		0.348	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		G	20199676	A	G	20199676	3	3	240	1	0	0	0	0	1	0	0	0	9143	246	9	4	2262	4	MACC1	7	20199676	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		20199676	138938987	20	17016											
ABCB5	340273	broad.mit.edu	37	chr7	20767947	20767947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacattccagaaatacctcGaagaaagcacagattattgg	16	9	8	8	1	0	3	0	0	0	3	2	4	1	3	2	1	3	2	2	1	6	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	912	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353																																						uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2734-2736)tcG>tcA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.							134	140	138					7																	20767947		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20767947G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2736G>A	7.37:g.20767947G>A						ABCB5_uc003suw.4_Silent_p.S467S|ABCB5_uc003sux.1_Silent_p.S90S	p.S912S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN			22	2973	+			467					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.2736G>A	CCDS55090.1																																																																																				0.353	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20767947	G	A	20767947	2	1	240	1	0	0	0	0	0	0	0	1	44	1045	37	2		2	ABCB5	7	20767947	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	568271	20767947	138370716	21	17017											
OR6V1	346517	broad.mit.edu	37	chr7	142750291	142750291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcaccccctttctcaatcCctttatccttaccttctgca	6	16	1	18	0	3	0	2	0	3	0	7	0	5	0	5	0	2	1	5	0	3	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:142750291C>T	ENST00000418316.1	+	1	875	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTCTCAATCCCTTTATCCTT	0.507																																						uc011ksv.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(853-855)cCc>cTc		Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.							74	78	77					7																	142750291		1968	4142	6110	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750291C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.854C>T	7.37:g.142750291C>T	ENSP00000396085:p.Pro285Leu						p.P285L	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			0	854	+	Melanoma(164;0.059)		285					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.854C>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492647	0.64074	.	.	ENSG00000225781	ENST00000418316	T	0.63417	-0.04	4.72	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55721	0.1938	N	0.08118	0	0.41965	D	0.990729	D	0.89917	1.0	D	0.97110	1.0	T	0.57225	-0.7848	9	0.87932	D	0	.	5.3682	0.16125	0.1621:0.6583:0.0:0.1795	.	285	Q8N148	OR6V1_HUMAN	L	285	ENSP00000396085:P285L	ENSP00000396085:P285L	P	+	2	0	OR6V1	142460413	0.744000	0.28250	0.042000	0.18584	0.979000	0.70002	2.394000	0.44450	0.196000	0.20367	0.655000	0.94253	CCC		0.507	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			T	142750291	C	T	142750291	3	4	240	1	0	0	0	0	1	0	0	0	11211	623	22	3	856	3	OR6V1	7	142750291	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	121982344	142750291	16388372	22	17018											
DOCK8	81704	broad.mit.edu	37	chr9	426982	426982	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggaaaacattatccagGtgaggaaaacaaacacccaa	19	5	8	9	0	0	1	0	1	0	0	1	3	1	3	2	3	4	1	2	3	7	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:426982G>T	ENST00000453981.1	+	34	4450		c.e34+1		DOCK8_ENST00000382329.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000432829.2_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATTATCCAGGTGAGGAAAAC	0.383																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.e34+1		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							58	52	54					9																	426982		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:426982G>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4338+1G>T	9.37:g.426982G>T						DOCK8_uc022bcu.1_Splice_Site_p.Q1378_splice|DOCK8_uc010mgv.3_Splice_Site_p.Q1346_splice|DOCK8_uc010mgu.3_Splice_Site_p.Q748_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	p.Q1446_splice	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	34	4450	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1446			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37	c.4338_splice	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693635	0.88735	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	416982	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.756000	0.98918	2.740000	0.93945	0.650000	0.86243	.		0.383	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Intron	T	426982	G	T	426982	5	4	240	1	0	0	0	0	0	0	1	0	4693	1275	44	5	4473	5	DOCK8	9	426982	Splice_Site	SNP	G	TCGA-32-4719-01A-01D-1353-08		426982	140786449	23	17019											
RGS3	5998	broad.mit.edu	37	chr9	116259676	116259677	+	Frame_Shift_Ins	INS	-	-	GCTGAGAG																															gccaggcggcgactgcggccINSgctgagaggtacctgcacac																										TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:116259676_116259677insGCTGAGAG	ENST00000374140.2	+	10	1042_1043	c.833_834insGCTGAGAG	c.(832-837)ccgctgfs	p.-279fs	RGS3_ENST00000350696.5_Frame_Shift_Ins_p.-279fs|RGS3_ENST00000317613.6_Frame_Shift_Ins_p.-167fs	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGACTGCGGCCGCTGAGAGGTA	0.619																																						uc004bhq.3																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(832-834)ccgfs		Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.																																				SO:0001589	frameshift_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116259676_116259677insGCTGAGAG	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.834_841dupGCTGAGAG	9.37:g.116259677_116259684dupGCTGAGAG	ENSP00000363255:p.Leu279fs					RGS3_uc004bhr.3_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.3_Frame_Shift_Ins_p.P168fs	p.P278fs	NM_144488	NP_652759	P49796	RGS3_HUMAN			9	1042_1043	+			278					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Frame_Shift_Ins	INS	ENST00000374140.2	37	c.833_834insGCTGAGAG	CCDS43869.1																																																																																				0.619	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		GCTGAGAG	116259677	-	GCTGAGAG	116259676	7	5	240	1	0	1	1	0	0	0	0	0	13306	652	23	0	950	0	RGS3	9	116259676	Frame_Shift_Ins	INS	-	TCGA-32-4719-01A-01D-1353-08	115832694	116259676	24953755	24	17020											
VAV2	7410	broad.mit.edu	37	chr9	136656960	136656960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaggtctccttgtccCgtttaacttcattgatgtac	7	16	6	12	1	3	1	2	1	1	0	6	1	5	1	3	1	2	2	3	1	3	6			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:136656960C>T	ENST00000371850.3	-	13	1164	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	VAV2_ENST00000371851.1_Missense_Mutation_p.R373Q|VAV2_ENST00000406606.3_Missense_Mutation_p.R373Q	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	378					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCCTTGTCCCGTTTAACTTC	0.488																																						uc004ces.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1132-1134)cGg>cAg		Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.							165	154	158					9																	136656960		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136656960C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1133G>A	9.37:g.136656960C>T	ENSP00000360916:p.Arg378Gln					VAV2_uc004cer.3_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	p.R378Q	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	12	1179	-			378					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1133G>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677189	0.88445	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.71341	-0.56;-0.56;-0.56	4.0	4.0	0.46444	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.981	B;B	0.43194	0.411;0.177	T	0.81120	-0.1077	10	0.87932	D	0	.	16.4582	0.84029	0.0:1.0:0.0:0.0	.	378;373	P52735;P52735-3	VAV2_HUMAN;.	Q	378;373;373;373	ENSP00000360916:R378Q;ENSP00000360917:R373Q;ENSP00000385362:R373Q	ENSP00000317258:R373Q	R	-	2	0	VAV2	135646781	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.587000	0.82613	1.927000	0.55829	0.549000	0.68633	CGG		0.488	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			T	136656960	C	T	136656960	3	4	240	1	0	0	0	0	1	0	0	0	17129	652	23	2	1575	2	VAV2	9	136656960	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	20397284	136656960	4556471	25	17021											
ARHGAP21	57584	broad.mit.edu	37	chr10	24873489	24873489	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtggtggtatggaaagaAggggcctgtttgttgaagcc	9	11	16	5	0	0	2	0	1	0	1	0	3	0	3	2	5	1	3	2	5	4	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:24873489A>C	ENST00000396432.2	-	26	6215	c.5729T>G	c.(5728-5730)cTt>cGt	p.L1910R		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1909					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATGGAAAGAAGGGGCCTGTT	0.483																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(5728-5730)cTt>cGt		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							104	99	100					10																	24873489		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24873489A>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5729T>G	10.37:g.24873489A>C	ENSP00000379709:p.Leu1910Arg					ARHGAP21_uc010qdb.1_Non-coding_Transcript	p.L1910R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			25	6216	-			1909					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5729T>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	4.211	0.037866	0.08148	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10668	2.85	4.95	-5.09	0.02920	.	1.262410	0.05117	N	0.490031	T	0.07818	0.0196	L	0.36672	1.1	0.19575	N	0.999961	P	0.38642	0.641	B	0.29267	0.1	T	0.35574	-0.9783	10	0.51188	T	0.08	.	11.0356	0.47799	0.147:0.2406:0.6124:0.0	.	1909	Q5T5U3	RHG21_HUMAN	R	1910;1359	ENSP00000379709:L1910R	ENSP00000379709:L1910R	L	-	2	0	ARHGAP21	24913495	0.975000	0.34042	0.004000	0.12327	0.130000	0.20726	1.345000	0.33953	-0.883000	0.03982	-0.290000	0.09829	CTT		0.483	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24873489	A	C	24873489	3	2	240	1	0	0	0	0	1	0	0	0	871	72	3	5	151	5	ARHGAP21	10	24873489	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		24873489	110661258	26	17022											
BTAF1	9044	broad.mit.edu	37	chr10	93786503	93786503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcccatcgcattGggcaggtaaaagtcaatttt	10	10	12	9	2	1	0	1	0	0	0	2	1	1	1	2	4	0	3	2	4	3	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:93786503G>A	ENST00000265990.6	+	36	5538	c.5230G>A	c.(5230-5232)Ggg>Agg	p.G1744R	BTAF1_ENST00000544642.1_Missense_Mutation_p.G572R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1744	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCATCGCATTGGGCAGGTAAA	0.463																																						uc001khr.3																			0		p.G1744G(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(5230-5232)Ggg>Agg		Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.							60	55	57					10																	93786503		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93786503G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5230G>A	10.37:g.93786503G>A	ENSP00000265990:p.Gly1744Arg						p.G1744R	NM_003972	NP_003963	O14981	BTAF1_HUMAN			35	5328	+		Colorectal(252;0.0846)	1744			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5230G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273212	0.95429	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.85773	-2.03;-2.03	5.65	5.65	0.86999	Helicase, C-terminal (3);	0.111600	0.64402	D	0.000008	D	0.96399	0.8825	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98074	1.0400	10	0.87932	D	0	-10.2335	19.7072	0.96079	0.0:0.0:1.0:0.0	.	1744	O14981	BTAF1_HUMAN	R	1744;572;594	ENSP00000265990:G1744R;ENSP00000439924:G572R	ENSP00000265990:G1744R	G	+	1	0	BTAF1	93776483	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	GGG		0.463	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		A	93786503	G	A	93786503	3	1	240	1	0	0	0	0	1	0	0	0	1536	1348	47	3	5372	3	BTAF1	10	93786503	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	68913014	93786503	41748244	27	17023											
KNDC1	85442	broad.mit.edu	37	chr10	135020727	135020727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctgcgacacgctggaCttcagccccctggacgagtc	7	6	11	17	3	1	0	1	0	0	0	2	4	1	2	3	2	2	2	3	2	0	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:135020727C>A	ENST00000304613.3	+	20	3687	c.3666C>A	c.(3664-3666)gaC>gaA	p.D1222E	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1224E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1222					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACACGCTGGACTTCAGCCCCC	0.687																																						uc001llz.1																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3664-3666)gaC>gaA		Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.							38	37	37					10																	135020727		2203	4299	6502	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020727C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3666C>A	10.37:g.135020727C>A	ENSP00000304437:p.Asp1222Glu						p.D1222E	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	19	3667	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1222					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3666C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762642	0.49574	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.12255	2.7;2.7	3.63	1.71	0.24356	Ras guanine nucleotide exchange factor, domain (1);	0.071241	0.53938	U	0.000058	T	0.08313	0.0207	N	0.24115	0.695	0.38290	D	0.942679	P	0.47106	0.89	B	0.42625	0.393	T	0.39961	-0.9588	10	0.19147	T	0.46	-28.803	7.9462	0.29987	0.0:0.7789:0.0:0.2211	.	1222	Q76NI1	VKIND_HUMAN	E	1222;1224	ENSP00000304437:D1222E;ENSP00000357561:D1224E	ENSP00000304437:D1222E	D	+	3	2	KNDC1	134870717	0.809000	0.29036	0.999000	0.59377	0.904000	0.53231	-0.234000	0.09028	0.299000	0.22661	0.431000	0.28591	GAC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135020727	C	A	135020727	3	1	240	1	0	0	0	0	1	0	0	0	8426	564	20	5	3744	5	KNDC1	10	135020727	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	41234224	135020727	514020	28	17024											
LRP4	4038	broad.mit.edu	37	chr11	46894746	46894746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatccaagtttgcccgttcGatcttggcaatgtggcccca	7	11	9	14	2	1	0	0	0	1	0	3	1	2	0	5	2	1	3	5	2	2	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:46894746G>A	ENST00000378623.1	-	30	4730	c.4488C>T	c.(4486-4488)atC>atT	p.I1496I	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1496					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGCCCGTTCGATCTTGGCAA	0.552																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4486-4488)atC>atT		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.							101	90	93					11																	46894746		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46894746G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4488C>T	11.37:g.46894746G>A						LOC100507401_uc001ndl.3_Non-coding_Transcript	p.I1496I	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	29	4731	-			1496					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.4488C>T	CCDS31478.1																																																																																				0.552	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46894746	G	A	46894746	2	1	240	1	0	0	0	0	0	0	0	1	8959	1048	37	2		2	LRP4	11	46894746	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		46894746	88111770	29	17025											
OR4A15	81328	broad.mit.edu	37	chr11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcttatgctgttggCggcctggattggaggctttc	3	16	14	8	1	1	0	0	0	1	0	2	2	1	2	1	5	1	4	1	5	1	5	rs374555766		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:55135883C>T	ENST00000314706.3	+	1	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443																																						uc010rif.2																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(523-525)gCg>gTg		Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.		C	VAL/ALA	0,4402		0,0,2201	230	206	214		524	0.9	0	11		214	1,8591		0,1,4295	no	missense	OR4A15	NM_001005275.1	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	175/345	55135883	1,12993	2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135883C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.524C>T	11.37:g.55135883C>T	ENSP00000325065:p.Ala175Val						p.A175V	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			0	524	+			175					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.524C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.404654	0.00195	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.36878	1.23	3.48	0.889	0.19212	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09261	N	0.826617	T	0.13329	0.0323	N	0.05031	-0.125	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31558	-0.9939	10	0.02654	T	1	.	4.4129	0.11441	0.0:0.1165:0.4033:0.4802	.	175	Q8NGL6	O4A15_HUMAN	V	175	ENSP00000325065:A175V	ENSP00000325065:A175V	A	+	2	0	OR4A15	54892459	0.000000	0.05858	0.028000	0.17463	0.200000	0.23975	-0.127000	0.10547	0.012000	0.14892	-0.487000	0.04747	GCG		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		T	55135883	C	T	55135883	3	4	240	1	0	0	0	0	1	0	0	0	11040	768	27	1	526	1	OR4A15	11	55135883	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	8241137	55135883	79870633	30	17026											
TECTA	7007	broad.mit.edu	37	chr11	121000704	121000704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagttttatcgaagcCgctccaggtgcggcatcatc	8	11	10	12	3	2	0	2	0	0	0	5	1	3	0	2	2	3	4	2	2	3	2	rs139132568		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:121000704C>T	ENST00000392793.1	+	10	2996	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C	TECTA_ENST00000264037.2_Missense_Mutation_p.R909C			O75443	TECTA_HUMAN	tectorin alpha	909	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTATCGAAGCCGCTCCAGGTG	0.562																																						uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2725-2727)Cgc>Tgc		Homo sapiens tectorin alpha (TECTA), mRNA.		C	CYS/ARG	0,4406		0,0,2203	65	63	63		2725	5.8	1	11	dbSNP_134	63	4,8594	3.7+/-12.6	0,4,4295	yes	missense	TECTA	NM_005422.2	180	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	909/2156	121000704	4,13000	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000704C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2725C>T	11.37:g.121000704C>T	ENSP00000376543:p.Arg909Cys						p.R909C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2725	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	909			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2725C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095954	0.76870	0.0	4.65E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77620	-1.11;-1.11	5.78	5.78	0.91487	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.060505	0.64402	D	0.000001	D	0.86802	0.6020	M	0.75085	2.285	0.53688	D	0.999972	D	0.89917	1.0	D	0.67231	0.95	D	0.87515	0.2442	10	0.66056	D	0.02	.	14.8062	0.69959	0.144:0.856:0.0:0.0	.	909	O75443	TECTA_HUMAN	C	909	ENSP00000376543:R909C;ENSP00000264037:R909C	ENSP00000264037:R909C	R	+	1	0	TECTA	120505914	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.404000	0.59735	2.742000	0.94016	0.650000	0.86243	CGC		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121000704	C	T	121000704	3	4	240	1	0	0	0	0	1	0	0	0	15744	652	23	2	2759	2	TECTA	11	121000704	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	65864821	121000704	14005812	31	17027											
PIK3C2G	5288	broad.mit.edu	37	chr12	18699324	18699324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgtataataatcttcGtccacaagacacagacctgg	14	11	7	9	1	1	2	0	0	1	2	3	2	2	2	2	1	0	1	2	1	5	5	rs369934938		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:18699324G>A	ENST00000266497.5	+	24	3463	c.3425G>A	c.(3424-3426)cGt>cAt	p.R1142H	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1183H|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1142H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1142	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AATAATCTTCGTCCACAAGAC	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		20835	0		0	False		,,,				2504	0					uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3424-3426)cGt>cAt		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.		G	HIS/ARG	3,3965		0,3,1981	108	98	101		3425	4.1	1	12		101	0,8364		0,0,4182	no	missense	PIK3C2G	NM_004570.4	29	0,3,6163	AA,AG,GG		0.0,0.0756,0.0243	probably-damaging	1142/1446	18699324	3,12329	1984	4182	6166	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18699324G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3425G>A	12.37:g.18699324G>A	ENSP00000266497:p.Arg1142His					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1183H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R961H	p.R1142H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			24	3541	+		Hepatocellular(102;0.194)	1142			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3425G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514458	0.64522	7.56E-4	0.0	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.81499	-1.5;-1.5;-1.5	4.07	4.07	0.47477	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.162226	0.38326	N	0.001739	D	0.84192	0.5418	L	0.46614	1.455	0.45250	D	0.998257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82760	-0.0298	10	0.44086	T	0.13	-17.2528	10.1414	0.42738	0.0931:0.0:0.9069:0.0	.	1182;1183;1142	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1142;1142;1183	ENSP00000404845:R1142H;ENSP00000266497:R1142H;ENSP00000445381:R1183H	ENSP00000266497:R1142H	R	+	2	0	PIK3C2G	18590591	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.867000	0.48428	2.562000	0.86427	0.655000	0.94253	CGT		0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18699324	G	A	18699324	3	1	240	1	0	0	0	0	1	0	0	0	11911	1145	40	1	3519	1	PIK3C2G	12	18699324	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		18699324	115152571	32	17028											
KRT79	338785	broad.mit.edu	37	chr12	53218087	53218087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtccaggttgcggttGttgtccatggacagcaccac	7	10	12	12	1	0	0	0	0	0	0	3	1	3	1	4	4	2	4	4	4	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:53218087G>T	ENST00000330553.5	-	5	949	c.915C>A	c.(913-915)aaC>aaA	p.N305K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	305	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.N305K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGCGGTTGTTGTCCATGG	0.597																																						uc001sbb.3																			1	Substitution - Missense(1)	p.N305K(2)	ovary(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(913-915)aaC>aaA		Homo sapiens keratin 79 (KRT79), mRNA.							107	83	91					12																	53218087		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53218087G>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.915C>A	12.37:g.53218087G>T	ENSP00000328358:p.Asn305Lys					KRT79_uc001sba.3_Missense_Mutation_p.N76K	p.N305K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			4	948	-			305			Linker 12.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.915C>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121685	0.77436	.	.	ENSG00000185640	ENST00000330553	T	0.75821	-0.97	4.08	3.19	0.36642	Filament (1);	0.000000	0.53938	D	0.000049	D	0.88548	0.6466	H	0.95884	3.735	0.47476	D	0.999439	D	0.69078	0.997	D	0.65323	0.934	D	0.90911	0.4776	10	0.87932	D	0	.	11.4539	0.50169	0.0902:0.0:0.9098:0.0	.	305	Q5XKE5	K2C79_HUMAN	K	305	ENSP00000328358:N305K	ENSP00000328358:N305K	N	-	3	2	KRT79	51504354	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.358000	0.52284	1.295000	0.44724	0.561000	0.74099	AAC		0.597	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		T	53218087	G	T	53218087	3	4	240	1	0	0	0	0	1	0	0	0	8492	1368	48	5	712	5	KRT79	12	53218087	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	34518763	53218087	80633808	33	17029											
SLC16A7	9194	broad.mit.edu	37	chr12	60169207	60169207	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagtgccgtcggactTgtcacaattgtggagtgtgg	6	14	13	8	2	1	0	1	0	0	0	3	2	2	2	2	3	1	0	2	3	1	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:60169207T>G	ENST00000261187.4	+	4	1295	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	SLC16A7_ENST00000552024.1_Silent_p.L377L|SLC16A7_ENST00000547379.1_Silent_p.L377L|SLC16A7_ENST00000552432.1_Silent_p.L377L|SLC16A7_ENST00000543448.1_Silent_p.L278L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	377					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CCGTCGGACTTGTCACAATTG	0.438																																						uc001sqs.3																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1129-1131)ctT>ctG		Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	Pyruvic acid(DB00119)						102	94	97					12																	60169207		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169207T>G	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1131T>G	12.37:g.60169207T>G						SLC16A7_uc001sqt.3_Silent_p.L377L|SLC16A7_uc001squ.3_Silent_p.L377L|SLC16A7_uc009zqi.3_Silent_p.L278L|SLC16A7_uc010ssi.2_Silent_p.L278L	p.L377L	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1430	+			377					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1131T>G	CCDS8961.1																																																																																				0.438	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		G	60169207	T	G	60169207	2	3	240	1	0	0	0	0	0	0	0	1	14413	1799	63	5		5	SLC16A7	12	60169207	Silent	SNP	T	TCGA-32-4719-01A-01D-1353-08	6951120	60169207	73682688	34	17030											
KCTD10	83892	broad.mit.edu	37	chr12	109889455	109889455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggatcctccgcacgCgctcgatccgctcccgctcc	4	9	10	18	6	0	1	0	1	0	0	6	3	5	2	5	1	0	4	5	1	0	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:109889455C>T	ENST00000228495.6	-	7	1168	c.887G>A	c.(886-888)cGc>cAc	p.R296H	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.R115H|KCTD10_ENST00000424763.2_Missense_Mutation_p.R115H|KCTD10_ENST00000540411.1_Missense_Mutation_p.R270H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	296					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTCCGCACGCGCTCGATCCG	0.716																																						uc001toj.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(913-915)cGc>cAc		Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.							51	46	48					12																	109889455		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109889455C>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.887G>A	12.37:g.109889455C>T	ENSP00000228495:p.Arg296His					KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.R270H|KCTD10_uc001toi.1_Missense_Mutation_p.R296H|KCTD10_uc001tok.1_Missense_Mutation_p.R115H	p.R305H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN			6	2627	-			296					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.914G>A	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.333935|5.333935	0.95758|0.95758	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000538161|ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402	.|T;T	.|0.56275	.|0.56;0.47	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.125811	.|0.56097	.|D	.|0.000027	T|T	0.75436|0.75436	0.3849|0.3849	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.991	T|T	0.79095|0.79095	-0.1944|-0.1944	5|10	.|0.87932	.|D	.|0	-17.7271|-17.7271	17.765|17.765	0.88475|0.88475	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|270;273;296	.|F5GWA4;Q9H3F6-2;Q9H3F6	.|.;.;BACD3_HUMAN	T|H	262|296;115;138;115;270;115;115;115	.|ENSP00000228495:R296H;ENSP00000441672:R270H	.|ENSP00000228495:R296H	A|R	-|-	1|2	0|0	KCTD10|KCTD10	108373838|108373838	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.769000|0.769000	0.43574|0.43574	7.731000|7.731000	0.84895|0.84895	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.716	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		T	109889455	C	T	109889455	3	4	240	1	0	0	0	0	1	0	0	0	8097	768	27	1	58	1	KCTD10	12	109889455	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	49720248	109889455	23962440	35	17031											
OR4K5	79317	broad.mit.edu	37	chr14	20389343	20389343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcctgcctggactcttAcatcattgaaatactaattg	11	14	6	10	0	2	1	1	1	1	0	2	2	2	2	2	1	4	0	2	1	4	6			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr14:20389343A>T	ENST00000315915.4	+	1	603	c.578A>T	c.(577-579)tAc>tTc	p.Y193F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGACTCTTACATCATTGAA	0.393																																						uc010tkw.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(577-579)tAc>tTc		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							254	267	262					14																	20389343		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389343A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.578A>T	14.37:g.20389343A>T	ENSP00000319511:p.Tyr193Phe						p.Y193F	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	578	+	all_cancers(95;0.00108)		193					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.578A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	6.678	0.493634	0.12702	.	.	ENSG00000176281	ENST00000315915	T	0.00158	8.65	4.38	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.148479	0.31102	N	0.008248	T	0.00109	0.0003	L	0.31420	0.93	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.12372	-1.0550	10	0.35671	T	0.21	.	4.69	0.12776	0.4987:0.1707:0.0:0.3306	.	193	Q8NGD3	OR4K5_HUMAN	F	193	ENSP00000319511:Y193F	ENSP00000319511:Y193F	Y	+	2	0	OR4K5	19459183	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.186000	0.16978	0.694000	0.31654	0.459000	0.35465	TAC		0.393	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		T	20389343	A	T	20389343	3	4	240	1	0	0	0	0	1	0	0	0	11073	391	14	5	580	5	OR4K5	14	20389343	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		20389343	86960197	36	17032											
GABRB3	2562	broad.mit.edu	37	chr15	26825472	26825472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggactcacctgtggCgaagacaacattcctcgaga	12	7	11	11	2	1	2	1	0	0	2	3	6	2	3	2	2	2	1	2	2	2	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:26825472C>T	ENST00000311550.5	-	6	787	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	GABRB3_ENST00000400188.3_Missense_Mutation_p.A155T|GABRB3_ENST00000299267.4_Missense_Mutation_p.A226T|GABRB3_ENST00000541819.2_Missense_Mutation_p.A282T|GABRB3_ENST00000545868.1_Missense_Mutation_p.A141T	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	226					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCACCTGTGGCGAAGACAACA	0.572																																						uc001zbb.3																			0		p.T282N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(844-846)Gcc>Acc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						107	99	102					15																	26825472		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825472C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.676G>A	15.37:g.26825472C>T	ENSP00000308725:p.Ala226Thr					GABRB3_uc021sgg.1_Missense_Mutation_p.A155T|GABRB3_uc021sgh.1_Missense_Mutation_p.A141T|GABRB3_uc001zaz.3_Missense_Mutation_p.A226T|GABRB3_uc001zba.3_Missense_Mutation_p.A226T	p.A282T	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	947	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	226					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.844G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449197	0.63178	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel ligand-binding (3);	0.047285	0.85682	D	0.000000	T	0.61999	0.2392	N	0.15975	0.35	0.80722	D	1	B;B;B	0.19583	0.023;0.037;0.026	B;B;B	0.15870	0.006;0.014;0.007	T	0.59048	-0.7527	10	0.07644	T	0.81	.	18.4139	0.90562	0.0:1.0:0.0:0.0	.	282;226;226	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	T	226;282;226;155;141	ENSP00000308725:A226T;ENSP00000442408:A282T;ENSP00000299267:A226T;ENSP00000383049:A155T;ENSP00000439169:A141T	ENSP00000299267:A226T	A	-	1	0	GABRB3	24376565	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.913000	0.56394	2.667000	0.90743	0.655000	0.94253	GCC		0.572	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26825472	C	T	26825472	3	4	240	1	0	0	0	0	1	0	0	0	6168	768	27	1	761	1	GABRB3	15	26825472	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		26825472	75705920	37	17033											
GOLGA6C	653641	broad.mit.edu	37	chr15	75557692	75557692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagtccagctagagcGggacgaatatgctaaacaca	18	5	9	9	2	0	1	0	0	0	1	1	3	1	2	1	1	5	2	1	1	8	3	rs199745302		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:75557692G>A	ENST00000300576.5	+	9	686	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	229						Golgi apparatus (GO:0005794)				ovary(1)	1						CAGCTAGAGCGGGACGAATAT	0.547																																						uc002azs.2																			0				ovary(1)	1						c.(685-687)cGg>cAg		Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.																																				SO:0001583	missense	653641							g.chr15:75557692G>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.686G>A	15.37:g.75557692G>A	ENSP00000300576:p.Arg229Gln					DQ588973_uc002azt.2_5'Flank	p.R229Q	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN			8	727	+			229						Missense_Mutation	SNP	ENST00000300576.5	37	c.686G>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	A	5.903	0.350640	0.11182	.	.	ENSG00000167195	ENST00000300576	T	0.37915	1.17	0.167	-0.334	0.12666	.	.	.	.	.	T	0.39733	0.1089	M	0.88181	2.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	9	0.46703	T	0.11	.	4.6561	0.12618	0.3009:0.0:0.6991:0.0	.	229	A6NDK9	GOG6C_HUMAN	Q	229	ENSP00000300576:R229Q	ENSP00000300576:R229Q	R	+	2	0	GOLGA6C	73344745	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.328000	0.43867	-0.841000	0.04200	-0.849000	0.03036	CGG		0.547	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		A	75557692	G	A	75557692	3	1	240	1	0	0	0	0	1	0	0	0	6559	1116	39	2	720	2	GOLGA6C	15	75557692	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	48732220	75557692	26973700	38	17034											
HAGH	3029	broad.mit.edu	37	chr16	1867224	1867224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctttacacatctcatccGcagtcccttcatagaacttc	10	12	5	14	1	2	1	2	0	1	1	6	2	4	1	2	0	3	2	2	0	3	5	rs150713216		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:1867224G>A	ENST00000397356.3	-	6	996	c.590C>T	c.(589-591)gCg>gTg	p.A197V	HAGH_ENST00000455446.2_Missense_Mutation_p.R161W|HAGH_ENST00000397353.2_Missense_Mutation_p.A149V|HAGH_ENST00000566709.1_Missense_Mutation_p.A149V	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	197					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CATCTCATCCGCAGTCCCTTC	0.637																																					Pancreas(55;1048 1176 25227 40124 41333)	uc002cna.3																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(589-591)gCg>gTg		Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glutathione(DB00143)	G	VAL/ALA,VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	55	55	55		446,590	5.2	0.1	16	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	HAGH	NM_001040427.1,NM_005326.4	64,64	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	149/261,197/309	1867224	1,12997	2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1867224G>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.590C>T	16.37:g.1867224G>A	ENSP00000380514:p.Ala197Val					HAGH_uc002cmz.3_Missense_Mutation_p.A149V|HAGH_uc010uvp.2_Missense_Mutation_p.R161W	p.A197V	NM_005326	NP_001035517	Q16775	GLO2_HUMAN			5	997	-		Hepatocellular(780;0.00335)	197					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.590C>T	CCDS10447.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.986483|3.986483	0.74589|0.74589	2.27E-4|2.27E-4	0.0|0.0	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.95821|.	-3.82;-3.82|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Beta-lactamase-like (2);|.	0.111909|.	0.64402|.	D|.	0.000012|.	T|T	0.78181|0.78181	0.4243|0.4243	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.67145	1.0;1.0|0.996	D;P|P	0.67900|0.57846	0.954;0.821|0.828	T|T	0.82307|0.82307	-0.0522|-0.0522	10|8	0.56958|0.72032	D|D	0.05|0.01	-1.1492|-1.1492	17.6003|17.6003	0.88024|0.88024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149;197|161	Q16775-2;Q16775|E7EN93	.;GLO2_HUMAN|.	V|W	197;149|161	ENSP00000380514:A197V;ENSP00000380511:A149V|.	ENSP00000380511:A149V|ENSP00000406552:R161W	A|R	-|-	2|1	0|2	HAGH|HAGH	1807225|1807225	1.000000|1.000000	0.71417|0.71417	0.084000|0.084000	0.20598|0.20598	0.170000|0.170000	0.22686|0.22686	9.295000|9.295000	0.96095|0.96095	2.402000|2.402000	0.81655|0.81655	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.637	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		A	1867224	G	A	1867224	3	1	240	1	0	0	0	0	1	0	0	0	6945	1087	38	1	352	1	HAGH	16	1867224	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		1867224	88487529	39	17035											
PDILT	204474	broad.mit.edu	37	chr16	20376785	20376785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtcaaagacgactacGttgaagttcttccccacgag	10	12	8	11	3	3	2	1	1	2	1	4	4	4	2	2	0	1	2	2	0	3	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:20376785G>A	ENST00000302451.4	-	9	1442	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	398	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448																																						uc002dhc.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1192-1194)aaC>aaT		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.							175	164	168					16																	20376785		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20376785G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1194C>T	16.37:g.20376785G>A							p.N398N	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			8	1417	-			398			Thioredoxin.		Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1194C>T	CCDS10584.1																																																																																				0.448	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20376785	G	A	20376785	2	1	240	1	0	0	0	0	0	0	0	1	11674	1136	40	1		1	PDILT	16	20376785	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	18509561	20376785	69977968	40	17036											
IL17C	27189	broad.mit.edu	37	chr16	88705562	88705562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgccaagtgggggcaGgctttgcctgtagccctggt	5	9	17	10	1	0	0	0	0	0	0	0	1	0	0	3	5	3	3	3	5	2	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:88705562G>A	ENST00000244241.4	+	2	229	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	60					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGTGGGGGCAGGCTTTGCCTG	0.697																																						uc002fla.3																			0				large_intestine(1)|lung(1)	2						c.(178-180)caG>caA		Homo sapiens interleukin 17C (IL17C), mRNA.							30	38	35					16																	88705562		2125	4224	6349	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88705562G>A	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.180G>A	16.37:g.88705562G>A							p.Q60Q	NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	1	229	+			60					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.180G>A	CCDS42217.1																																																																																				0.697	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		A	88705562	G	A	88705562	2	1	240	1	0	0	0	0	0	0	0	1	7636	991	35	3		3	IL17C	16	88705562	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	68328777	88705562	1649191	41	17037											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38340589	38340589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagaggaagagggggccggCcacatcatcaaggtgggcct	11	4	16	10	1	2	2	2	0	0	2	2	3	2	3	3	6	0	0	3	6	3	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:38340589C>T	ENST00000456989.2	+	3	316	c.270C>T	c.(268-270)ggC>ggT	p.G90G	RAPGEFL1_ENST00000544503.1_Silent_p.G84G|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Silent_p.G35G|RAPGEFL1_ENST00000436615.3_Silent_p.G35G			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	241	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGGGGCCGGCCACATCATCA	0.587																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(103-105)ggC>ggT		Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.							53	63	59					17																	38340589		2203	4300	6503	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38340589C>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.270C>T	17.37:g.38340589C>T							p.G35G	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			2	595	+			241			Gly-rich.			Silent	SNP	ENST00000456989.2	37	c.105C>T																																																																																					0.587	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38340589	C	T	38340589	2	4	240	1	0	0	0	0	0	0	0	1	13049	726	26	3		3	RAPGEFL1	17	38340589	Silent	SNP	C	TCGA-32-4719-01A-01D-1353-08		38340589	42854621	42	17038											
DHX40	79665	broad.mit.edu	37	chr17	57665340	57665340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcagtaataaaagctgCttccctggattgtgaagatc	12	12	10	7	0	0	2	0	1	0	1	2	3	1	3	1	1	3	4	1	1	4	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:57665340C>T	ENST00000251241.4	+	12	1655	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	DHX40_ENST00000451169.2_Missense_Mutation_p.A455V|DHX40_ENST00000425628.3_Missense_Mutation_p.A426V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	503							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATAAAAGCTGCTTCCCTGGAT	0.398																																						uc002ixn.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(1507-1509)gCt>gTt		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.							126	112	117					17																	57665340		2202	4298	6500	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57665340C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1508C>T	17.37:g.57665340C>T	ENSP00000251241:p.Ala503Val					DHX40_uc010woe.2_Missense_Mutation_p.A426V|DHX40_uc010wof.2_Missense_Mutation_p.A18V	p.A503V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN			11	1655	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		503					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.1508C>T	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	-	15.10	2.733354	0.48939	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.30981	1.51;1.51	5.3	4.33	0.51752	Helicase-associated domain (2);	0.150046	0.64402	D	0.000012	T	0.19208	0.0461	L	0.28694	0.88	0.49582	D	0.9998	B;B	0.33171	0.4;0.27	B;B	0.26969	0.075;0.054	T	0.04930	-1.0917	10	0.13853	T	0.58	.	13.4097	0.60935	0.0:0.9241:0.0:0.0759	.	426;503	F5H625;Q8IX18	.;DHX40_HUMAN	V	503;426;503;455	ENSP00000251241:A503V;ENSP00000396039:A455V	ENSP00000251241:A503V	A	+	2	0	DHX40	55020122	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.729000	0.68538	2.487000	0.83934	0.544000	0.68410	GCT		0.398	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		T	57665340	C	T	57665340	3	4	240	1	0	0	0	0	1	0	0	0	4512	797	28	3	1554	3	DHX40	17	57665340	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	19324751	57665340	23529870	43	17039											
SCN4A	6329	broad.mit.edu	37	chr17	62019282	62019282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggacacgcccaatccGcgccaggcggatcacacgga	10	2	12	17	6	1	0	1	0	0	0	2	3	2	3	4	4	0	1	4	4	1	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:62019282G>A	ENST00000435607.1	-	24	4436	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1454W	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1454					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCCCAATCCGCGCCAGGCGG	0.642																																						uc002jds.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4360-4362)Cgg>Tgg		Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	Lamotrigine(DB00555)						42	43	43					17																	62019282		2198	4298	6496	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62019282G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4360C>T	17.37:g.62019282G>A	ENSP00000396320:p.Arg1454Trp						p.R1454W	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	4437	-			1454					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4360C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112504	0.37242	.	.	ENSG00000007314	ENST00000435607	D	0.98822	-5.16	3.71	2.71	0.32032	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.99815	4.805	0.53005	D	0.999963	D	0.76494	0.999	D	0.66716	0.946	D	0.97845	1.0271	10	0.87932	D	0	.	9.8178	0.40862	0.0:0.0:0.476:0.524	.	1454	P35499	SCN4A_HUMAN	W	1454	ENSP00000396320:R1454W	ENSP00000396320:R1454W	R	-	1	2	SCN4A	59373014	0.369000	0.25039	0.481000	0.27354	0.403000	0.30841	0.683000	0.25349	0.884000	0.36064	0.407000	0.27541	CGG		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62019282	G	A	62019282	3	1	240	1	0	0	0	0	1	0	0	0	13920	1086	38	1	1154	1	SCN4A	17	62019282	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	4353942	62019282	19175928	44	17040											
LAMA1	284217	broad.mit.edu	37	chr18	6982557	6982557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcgctgcacggcCgctttcccgttagaaacaag	8	8	12	13	4	0	1	0	0	0	1	1	2	1	2	2	2	4	5	2	2	3	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr18:6982557C>T	ENST00000389658.3	-	41	5922	c.5829G>A	c.(5827-5829)gcG>gcA	p.A1943A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1943	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTGCACGGCCGCTTTCCCGT	0.547																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5827-5829)gcG>gcA		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146	142	144					18																	6982557		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6982557C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5829G>A	18.37:g.6982557C>T						LAMA1_uc010wzj.2_Silent_p.A1419A	p.A1943A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			40	5923	-		Colorectal(10;0.172)	1943			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.5829G>A	CCDS32787.1																																																																																				0.547	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6982557	C	T	6982557	2	4	240	1	0	0	0	0	0	0	0	1	8605	639	23	2		2	LAMA1	18	6982557	Silent	SNP	C	TCGA-32-4719-01A-01D-1353-08		6982557	71094691	45	17041											
ATP8B3	148229	broad.mit.edu	37	chr19	1805392	1805392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaaggacgccatcttCtttatagtggccagttcttt	8	15	8	10	1	3	1	0	1	3	0	3	2	3	2	3	2	0	1	3	2	3	7	rs202113850		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:1805392C>A	ENST00000310127.6	-	10	1123	c.885G>T	c.(883-885)aaG>aaT	p.K295N	ATP8B3_ENST00000539485.1_Missense_Mutation_p.K295N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.K242N|ATP8B3_ENST00000526092.2_Missense_Mutation_p.K242N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	295					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCATCTTCTTTATAGTGG	0.478																																						uc002ltw.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(883-885)aaG>aaT		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.							72	71	72					19																	1805392		1950	4138	6088	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1805392C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.885G>T	19.37:g.1805392C>A	ENSP00000311336:p.Lys295Asn					ATP8B3_uc002ltv.3_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	p.K295N	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1119	-		Hepatocellular(1079;0.137)	295					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.885G>T	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.251|0.251	-1.006178|-1.006178	0.02112|0.02112	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339|ENST00000533993	T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14|.	4.27|4.27	1.96|1.96	0.26148|0.26148	ATPase, P-type, ATPase-associated domain (1);|.	0.967684|.	0.08525|.	N|.	0.932894|.	T|T	0.34600|0.34600	0.0903|0.0903	L|L	0.37466|0.37466	1.105|1.105	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39920|.	0.646;0.642;0.695|.	B;B;B|.	0.38106|.	0.164;0.265;0.179|.	T|T	0.22034|0.22034	-1.0228|-1.0228	10|5	0.23302|.	T|.	0.38|.	.|.	7.9389|7.9389	0.29946|0.29946	0.0:0.7215:0.1774:0.101|0.0:0.7215:0.1774:0.101	.|.	242;295;242|.	F5H3R9;O60423;Q7Z485|.	.;AT8B3_HUMAN;.|.	N|I	295;295;242;242;242|258	ENSP00000311336:K295N;ENSP00000443574:K295N;ENSP00000437115:K242N;ENSP00000445204:K242N|.	ENSP00000311336:K295N|.	K|R	-|-	3|2	2|0	ATP8B3|ATP8B3	1756392|1756392	0.000000|0.000000	0.05858|0.05858	0.234000|0.234000	0.24042|0.24042	0.156000|0.156000	0.22039|0.22039	-0.162000|-0.162000	0.10012|0.10012	1.012000|1.012000	0.39366|0.39366	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.478	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		A	1805392	C	A	1805392	3	1	240	1	0	0	0	0	1	0	0	0	1196	912	32	5	3145	5	ATP8B3	19	1805392	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		1805392	57323591	46	17042											
DOT1L	84444	broad.mit.edu	37	chr19	2227030	2227030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctctgtgccggccGccgcaggcctggtgcacgtg	3	9	15	14	4	2	0	1	0	1	0	2	0	2	0	4	3	3	4	4	3	0	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:2227030G>A	ENST00000398665.3	+	27	4546	c.4510G>A	c.(4510-4512)Gcc>Acc	p.A1504T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1504					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCGGCCGCCGCAGGCCT	0.697																																						uc002lvc.1																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2392-2394)Gcc>Acc		Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.							7	9	8					19																	2227030		2001	4093	6094	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2227030G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4510G>A	19.37:g.2227030G>A	ENSP00000381657:p.Ala1504Thr					DOT1L_uc002lvb.4_Missense_Mutation_p.A1504T	p.A798T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	3159	+		Hepatocellular(1079;0.137)	1504					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2392G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471336	0.43942	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590;ENST00000446286	T;T	0.41400	1.42;1.0	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000012	T	0.60104	0.2243	M	0.64997	1.995	0.20489	N	0.999895	D;D	0.89917	1.0;0.999	D;D	0.80764	0.925;0.994	T	0.54084	-0.8346	10	0.87932	D	0	-10.1866	13.4875	0.61375	0.0:0.0:1.0:0.0	.	1504;1504	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	T	1504;1504;384;39	ENSP00000381657:A1504T;ENSP00000407411:A384T	ENSP00000221482:A1504T	A	+	1	0	DOT1L	2178030	0.998000	0.40836	0.189000	0.23252	0.008000	0.06430	4.404000	0.59735	1.824000	0.53156	0.561000	0.74099	GCC		0.697	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2227030	G	A	2227030	3	1	240	1	0	0	0	0	1	0	0	0	4709	1087	38	1	4616	1	DOT1L	19	2227030	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	421638	2227030	56901953	47	17043											
OR7G3	390883	broad.mit.edu	37	chr19	9237058	9237058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttattgatgaggacatcaGaacaggcgagcttgagaata	14	10	12	5	1	1	4	1	3	0	2	1	7	1	5	0	2	2	2	0	2	4	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:9237058G>A	ENST00000305444.2	-	1	568	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGACATCAGAACAGGCGAG	0.463																																						uc010xkl.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(568-570)tCt>tTt		Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.							73	71	71					19																	9237058		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237058G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.569C>T	19.37:g.9237058G>A	ENSP00000302867:p.Ser190Phe						p.S190F	NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN			0	569	-			190					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.569C>T	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764210	0.49574	.	.	ENSG00000170920	ENST00000305444	T	0.00253	8.43	3.96	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001172	T	0.00875	0.0029	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14008	-1.0488	10	0.72032	D	0.01	.	13.1388	0.59423	0.0:0.1626:0.8374:0.0	.	190	Q8NG95	OR7G3_HUMAN	F	190	ENSP00000302867:S190F	ENSP00000302867:S190F	S	-	2	0	OR7G3	9098058	0.000000	0.05858	0.235000	0.24058	0.142000	0.21351	0.565000	0.23578	2.251000	0.74343	0.551000	0.68910	TCT		0.463	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			A	9237058	G	A	9237058	3	1	240	1	0	0	0	0	1	0	0	0	11224	942	33	3	372	3	OR7G3	19	9237058	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	7010028	9237058	49891925	48	17044											
GPR77	27202	broad.mit.edu	37	chr19	47844107	47844107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggattacagcgacctctcGgaccgccctgtggactgcct	6	8	13	14	3	1	0	0	0	1	0	2	4	1	3	4	4	3	0	4	4	1	1	rs115216760	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:47844107G>A	ENST00000595464.1	+	2	269	c.51G>A	c.(49-51)tcG>tcA	p.S17S	C5AR2_ENST00000600626.1_Silent_p.S17S|C5AR2_ENST00000257267.2_Silent_p.S17S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	17					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GCGACCTCTCGGACCGCCCTG	0.627													G|||	29	0.00579073	0.0197	0.0043	5008	,	,		16077	0		0	False		,,,				2504	0					uc002pgk.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(49-51)tcG>tcA		Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.		G		82,4324	64.7+/-102.0	1,80,2122	60	62	61		51	-2.8	0	19	dbSNP_132	61	0,8600		0,0,4300	no	coding-synonymous	GPR77	NM_018485.1		1,80,6422	AA,AG,GG		0.0,1.8611,0.6305		17/338	47844107	82,12924	2203	4300	6503	SO:0001819	synonymous_variant	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844107G>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.51G>A	19.37:g.47844107G>A						GPR77_uc010ela.1_Silent_p.S17S|GPR77_uc021uwn.1_Silent_p.S17S	p.S17S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	1	122	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	17					B2RA09	Silent	SNP	ENST00000595464.1	37	c.51G>A	CCDS12699.1																																																																																				0.627	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		A	47844107	G	A	47844107	2	1	240	1	0	0	0	0	0	0	0	1	6709	1103	39	2		2	GPR77	19	47844107	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	38607049	47844107	11284876	49	17045											
GFRA4	64096	broad.mit.edu	37	chr20	3640880	3640880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggccacccgctggcaaaGgcctgaatggcaccatctat	9	6	13	13	1	1	1	0	1	1	0	1	1	1	1	4	5	0	3	4	5	3	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr20:3640880G>T	ENST00000319242.3	-	4	743	c.744C>A	c.(742-744)gcC>gcA	p.A248A	GFRA4_ENST00000290417.2_Silent_p.A218A			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	248					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CGCTGGCAAAGGCCTGAATGG	0.647																																						uc002wio.3																			0				large_intestine(1)|lung(2)	3						c.(742-744)gcC>gcA		Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.							13	15	14					20																	3640880		2199	4283	6482	SO:0001819	synonymous_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3640880G>T	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.744C>A	20.37:g.3640880G>T						GFRA4_uc002win.3_Silent_p.A218A	p.A248A	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			3	744	-			248					Q5JT74|Q9H191|Q9H192	Silent	SNP	ENST00000319242.3	37	c.744C>A	CCDS13056.1																																																																																				0.647	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		T	3640880	G	T	3640880	2	4	240	1	0	0	0	0	0	0	0	1	6350	987	35	5		5	GFRA4	20	3640880	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		3640880	59384640	50	17046											
ERG	2078	broad.mit.edu	37	chr21	39755623	39755623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtagcgcttcccatggAccttggtcatgatgttcttg	6	13	12	10	2	2	1	1	1	1	0	3	2	3	2	2	3	1	3	2	3	1	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:39755623A>G	ENST00000417133.2	-	12	1348	c.1163T>C	c.(1162-1164)gTc>gCc	p.V388A	ERG_ENST00000398919.2_Missense_Mutation_p.V388A|ERG_ENST00000398911.1_Missense_Mutation_p.V364A|ERG_ENST00000398907.1_Missense_Mutation_p.V358A|ERG_ENST00000398910.1_Missense_Mutation_p.V365A|ERG_ENST00000453032.2_Missense_Mutation_p.V289A|ERG_ENST00000398897.1_Missense_Mutation_p.V265A|ERG_ENST00000398905.1_Missense_Mutation_p.V357A|ERG_ENST00000288319.7_Missense_Mutation_p.V381A|ERG_ENST00000442448.1_Missense_Mutation_p.V364A	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTTCCCATGGACCTTGGTCAT	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.3				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(1162-1164)gTc>gCc		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.							138	116	124					21																	39755623		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755623A>G		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1163T>C	21.37:g.39755623A>G	ENSP00000414150:p.Val388Ala					ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.V381A|ERG_uc011aek.2_Missense_Mutation_p.V289A|ERG_uc010gnv.3_Missense_Mutation_p.V265A|ERG_uc010gnx.3_Missense_Mutation_p.V364A|ERG_uc011ael.2_Missense_Mutation_p.V388A|ERG_uc002yxb.3_Missense_Mutation_p.V364A	p.V388A	NM_001243428	NP_001230357	P11308	ERG_HUMAN			11	1458	-		Prostate(19;3.6e-06)	388					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1163T>C	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443429	0.83993	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.993;0.996	D	0.86360	0.1716	10	0.87932	D	0	.	15.0919	0.72201	1.0:0.0:0.0:0.0	.	388;357;364;381	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	A	357;358;381;265;364;388;365;364;289;388	ENSP00000381877:V357A;ENSP00000381879:V358A;ENSP00000288319:V381A;ENSP00000381871:V265A;ENSP00000381882:V364A;ENSP00000414150:V388A;ENSP00000381881:V365A;ENSP00000394694:V364A;ENSP00000396268:V289A;ENSP00000381891:V388A	ENSP00000288319:V381A	V	-	2	0	ERG	38677493	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.339000	0.96797	1.949000	0.56562	0.533000	0.62120	GTC		0.592	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		G	39755623	A	G	39755623	3	3	240	1	0	0	0	0	1	0	0	0	5222	275	10	4	301	4	ERG	21	39755623	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		39755623	8374272	51	17047											
PRDM15	63977	broad.mit.edu	37	chr21	43230571	43230571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggacaccttggtcccgCacagctggcagctctgcgcc	5	8	13	15	2	1	0	0	0	1	0	2	1	2	1	3	4	3	4	3	4	0	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:43230571C>T	ENST00000269844.3	-	28	3799	c.3689G>A	c.(3688-3690)tGc>tAc	p.C1230Y	PRDM15_ENST00000398548.1_Missense_Mutation_p.C901Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C884Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.C921Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C864Y|PRDM15_ENST00000470586.1_5'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTGGTCCCGCACAGCTGGCA	0.652																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3688-3690)tGc>tAc		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							86	58	68					21																	43230571		2203	4299	6502	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230571C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3689G>A	21.37:g.43230571C>T	ENSP00000269844:p.Cys1230Tyr					PRDM15_uc002yzo.3_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.3_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	p.C1230Y	NM_022115	NP_071398	P57071	PRD15_HUMAN			27	3800	-			1230					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3689G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.116723	0.77323	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.17054	3.13;3.13;3.13;3.13;2.3	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.28532	0.0706	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.14090	-1.0485	9	0.87932	D	0	-19.6414	15.3339	0.74234	0.0:1.0:0.0:0.0	.	1230;921;901	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	921;901;884;864;1230	ENSP00000408592:C921Y;ENSP00000381556:C901Y;ENSP00000444044:C884Y;ENSP00000390245:C864Y;ENSP00000269844:C1230Y	ENSP00000269844:C1230Y	C	-	2	0	PRDM15	42103640	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.530000	0.81962	1.836000	0.53414	0.306000	0.20318	TGC		0.652	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		T	43230571	C	T	43230571	3	4	240	1	0	0	0	0	1	0	0	0	12456	710	25	3	850	3	PRDM15	21	43230571	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	3474948	43230571	4899324	52	17048											
CELSR1	9620	broad.mit.edu	37	chr22	46931595	46931595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtagtgaatggccgcGttctggccctggtcccggtc	4	11	14	12	3	1	1	0	1	1	0	3	1	2	1	3	4	1	3	3	4	2	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr22:46931595G>A	ENST00000262738.3	-	1	1472	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Silent_p.N491N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAATGGCCGCGTTCTGGCCCT	0.632																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1471-1473)aaC>aaT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							72	62	66					22																	46931595		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931595G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1473C>T	22.37:g.46931595G>A							p.N491N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	0	1473	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	491			Cadherin 3.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.1473C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46931595	G	A	46931595	2	1	240	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46931595	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		46931595	4372971	53	17049											
FAM47C	442444	broad.mit.edu	37	chrX	37028050	37028050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccagagcctcccaagatt	9	8	9	15	1	1	3	0	0	1	3	4	4	3	4	5	1	1	0	5	1	1	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:37028050C>T	ENST00000358047.3	+	1	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	523										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.612																																						uc004ddl.2																			0		p.R523H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1567-1569)Cgc>Tgc		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							86	84	85					X																	37028050		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028050C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1567C>T	X.37:g.37028050C>T	ENSP00000367913:p.Arg523Cys						p.R523C	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	1619	+			523					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1567C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.801	1.180448	0.21787	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	0.993	0.993	0.19825	.	.	.	.	.	T	0.12902	0.0313	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	B	0.39299	0.296	T	0.17992	-1.0351	9	0.48119	T	0.1	.	7.5332	0.27695	0.0:0.9999:0.0:1.0E-4	.	523	Q5HY64	FA47C_HUMAN	C	523	ENSP00000367913:R523C	ENSP00000367913:R523C	R	+	1	0	FAM47C	36937971	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-1.737000	0.01843	0.764000	0.33197	0.413000	0.27773	CGC		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37028050	C	T	37028050	3	4	240	1	0	0	0	0	1	0	0	0	5571	652	23	2	1569	2	FAM47C	23	37028050	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		37028050	118242510	54	17050											
PCDH11X	27328	broad.mit.edu	37	chrX	91090711	91090711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctagtgtacaagaccGgagatgtgccactgattcga	12	9	11	9	2	1	3	1	1	0	2	2	5	1	3	2	1	3	2	2	1	4	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:91090711G>A	ENST00000373094.1	+	1	1053	c.208G>A	c.(208-210)Gga>Aga	p.G70R	PCDH11X_ENST00000373097.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G70R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G70R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G70R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G70R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACAAGACCGGAGATGTGCC	0.458																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(208-210)Gga>Aga		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							171	140	151					X																	91090711		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090711G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.208G>A	X.37:g.91090711G>A	ENSP00000362186:p.Gly70Arg					PCDH11X_uc004efl.2_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.2_Missense_Mutation_p.G70R|PCDH11X_uc004efm.2_Missense_Mutation_p.G70R|PCDH11X_uc004efn.2_Missense_Mutation_p.G70R|PCDH11X_uc004efo.2_Missense_Mutation_p.G70R|PCDH11X_uc004efh.2_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R	p.G70R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			0	1053	+			70			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.208G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692304	0.48202	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.06	4.06	0.47325	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.53249	1.67	0.58432	D	0.999993	D;P;D;D;D;D;D;D	0.76494	0.986;0.713;0.998;0.998;0.998;0.999;0.986;0.986	P;B;P;P;P;D;P;P	0.63793	0.778;0.211;0.867;0.867;0.867;0.918;0.668;0.668	T	0.51911	-0.8645	10	0.72032	D	0.01	.	14.7015	0.69160	0.0:0.0:1.0:0.0	.	70;70;70;70;70;70;70;70	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	70	ENSP00000378746:G70R;ENSP00000362186:G70R;ENSP00000362189:G70R;ENSP00000355040:G70R;ENSP00000362180:G70R;ENSP00000423762:G70R;ENSP00000355105:G70R;ENSP00000384758:G70R;ENSP00000298274:G70R	ENSP00000298274:G70R	G	+	1	0	PCDH11X	90977367	1.000000	0.71417	0.388000	0.26195	0.060000	0.15804	6.976000	0.76135	1.993000	0.58246	0.506000	0.49869	GGA		0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91090711	G	A	91090711	3	1	240	1	0	0	0	0	1	0	0	0	11508	1117	39	2	210	2	PCDH11X	23	91090711	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	54062661	91090711	64179849	55	17051											
VSIG1	340547	broad.mit.edu	37	chrX	107301373	107301373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaccactgtggcctcccGagaacagctttccatccagt	9	8	7	17	1	0	1	0	0	0	1	3	2	3	1	6	1	2	1	6	1	1	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:107301373G>A	ENST00000217957.5	+	2	272	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	VSIG1_ENST00000415430.3_Missense_Mutation_p.R52Q	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	52	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTGGCCTCCCGAGAACAGCTT	0.468																																						uc011msk.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(154-156)cGa>cAa		Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.							177	130	146					X																	107301373		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107301373G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.155G>A	X.37:g.107301373G>A	ENSP00000217957:p.Arg52Gln					VSIG1_uc004eno.3_Missense_Mutation_p.R52Q	p.R52Q	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN			1	316	+			52			Ig-like V-type 1.		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.155G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	4.745	0.138488	0.09083	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.63913	-0.07;-0.07;-0.07	5.0	-7.1	0.01547	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.112520	0.02453	N	0.085813	T	0.37128	0.0992	N	0.25647	0.755	0.09310	N	1	B;B	0.31599	0.33;0.185	B;B	0.21546	0.035;0.025	T	0.28170	-1.0052	10	0.11794	T	0.64	.	3.8448	0.08930	0.1676:0.0922:0.1382:0.602	.	52;52	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	52	ENSP00000402219:R52Q;ENSP00000217957:R52Q;ENSP00000407102:R52Q	ENSP00000217957:R52Q	R	+	2	0	VSIG1	107188029	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.803000	0.04540	-1.903000	0.01093	-0.318000	0.08688	CGA		0.468	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		A	107301373	G	A	107301373	3	1	240	1	0	0	0	0	1	0	0	0	17219	1058	37	2	161	2	VSIG1	23	107301373	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	16210662	107301373	47969187	56	17052											
MIB2	142678	broad.mit.edu	37	chr1	1563429	1563429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacacgcccctgcactccGccatctcggcgggcactgga	6	5	12	18	5	1	0	0	0	1	0	3	2	2	2	4	4	1	2	4	4	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:1563429G>A	ENST00000357210.4	+	14	2101	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	MIB2_ENST00000378708.1_Missense_Mutation_p.A535T|MIB2_ENST00000360522.4_Missense_Mutation_p.A594T|MIB2_ENST00000355826.5_Missense_Mutation_p.A672T|MIB2_ENST00000518681.1_Missense_Mutation_p.A621T|MIB2_ENST00000378712.1_Missense_Mutation_p.A506T|MIB2_ENST00000520777.1_Missense_Mutation_p.A682T|MIB2_ENST00000504599.1_Missense_Mutation_p.A585T|MIB2_ENST00000378710.3_Missense_Mutation_p.A593T|MIB2_ENST00000505820.2_Missense_Mutation_p.A686T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	629					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCACTCCGCCATCTCGGC	0.652																																						uc001agg.3																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2056-2058)Gcc>Acc		Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.							31	36	34					1																	1563429		2193	4293	6486	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563429G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1885G>A	1.37:g.1563429G>A	ENSP00000349741:p.Ala629Thr					MIB2_uc001agh.3_Missense_Mutation_p.A672T|MIB2_uc001agi.3_Missense_Mutation_p.A682T|MIB2_uc001agj.3_Missense_Mutation_p.A470T|MIB2_uc001agk.3_Missense_Mutation_p.A621T|MIB2_uc001agl.2_Missense_Mutation_p.A585T|MIB2_uc001agm.3_Missense_Mutation_p.A506T|MIB2_uc010nyq.2_Missense_Mutation_p.A585T|MIB2_uc009vkh.3_Missense_Mutation_p.A435T|MIB2_uc001agn.3_Missense_Mutation_p.A261T|MIB2_uc001ago.3_5'Flank	p.A686T	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	2101	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	629					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2056G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.957462|2.957462	0.53400|0.53400	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	3.68|3.68	2.75|2.75	0.32379|0.32379	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84005|0.84005	0.5377|0.5377	H|H	0.95645|0.95645	3.7|3.7	0.53688|0.53688	D|D	0.999973|0.999973	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0;1.0;0.999;1.0|.	D|D	0.86184|0.86184	0.1608|0.1608	10|5	0.87932|.	D|.	0|.	-10.0427|-10.0427	10.5133|10.5133	0.44874|0.44874	0.0979:0.0:0.9021:0.0|0.0979:0.0:0.9021:0.0	.|.	594;535;506;621;682;615;629|.	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;.;MIB2_HUMAN|.	T|H	682;629;594;593;672;621;686;506;585;535|444	ENSP00000428660:A682T;ENSP00000349741:A629T;ENSP00000353713:A594T;ENSP00000367982:A593T;ENSP00000348081:A672T;ENSP00000428264:A621T;ENSP00000426103:A686T;ENSP00000367984:A506T;ENSP00000426128:A585T;ENSP00000367980:A535T|.	ENSP00000348081:A672T|.	A|R	+|+	1|2	0|0	MIB2|MIB2	1553292|1553292	1.000000|1.000000	0.71417|0.71417	0.595000|0.595000	0.28798|0.28798	0.549000|0.549000	0.35272|0.35272	9.070000|9.070000	0.93974|0.93974	0.727000|0.727000	0.32360|0.32360	0.542000|0.542000	0.68232|0.68232	GCC|CGC		0.652	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		A	1563429	G	A	1563429	3	1	241	1	0	0	0	0	1	0	0	0	9567	1087	38	1	2110	1	MIB2	1	1563429	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		1563429	247687192	1	17053											
RCC1	1104	broad.mit.edu	37	chr1	28858379	28858379	+	Frame_Shift_Del	DEL	C	C	-																															ctaggccagggcgacgtgggCcagctggggctgggtgagaa																										TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:28858379delC	ENST00000373833.6	+	6	423	c.138delC	c.(136-138)ggcfs	p.G46fs	RCC1_ENST00000373832.1_Frame_Shift_Del_p.G46fs|RCC1_ENST00000373831.3_Frame_Shift_Del_p.G77fs|RCC1_ENST00000398958.2_Frame_Shift_Del_p.G46fs			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	46					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACGTGGGCCAGCTGGGGC	0.607																																						uc001bqb.2																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(136-138)ggcfs		Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.							57	58	58					1																	28858379		2203	4300	6503	SO:0001589	frameshift_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858379delC	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.138delC	1.37:g.28858379delC	ENSP00000362939:p.Gly46fs					RCC1_uc001bqa.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqc.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.2_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.2_Frame_Shift_Del_p.G77fs|RCC1_uc001bqg.2_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	5	537	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	46					Q16269|Q6NT97	Frame_Shift_Del	DEL	ENST00000373833.6	37	c.138delC	CCDS323.1																																																																																				0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		-	28858379	C	-	28858379	7	5	241	1	0	1	0	1	0	0	0	0	13173	726	26	0	241	0	RCC1	1	28858379	Frame_Shift_Del	DEL	C	TCGA-32-5222-01A-01D-1486-08	27294950	28858379	220392242	2	17054											
BARHL2	343472	broad.mit.edu	37	chr1	91182732	91182732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctattccaaaactcgacccGctggccccttccattgtcat	8	12	5	16	2	2	0	1	0	1	0	5	1	4	0	5	1	1	1	5	1	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:91182732G>A	ENST00000370445.4	-	1	62	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	7					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AACTCGACCCGCTGGCCCCTT	0.562																																					GBM(199;3561 4100 22440)	uc001dns.3																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(19-21)agC>agT		Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.							94	100	98					1																	91182732		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182732G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.21C>T	1.37:g.91182732G>A							p.S7S	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	0	63	-		all_lung(203;0.0263)|Lung SC(238;0.128)	7					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.21C>T	CCDS730.1																																																																																				0.562	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			A	91182732	G	A	91182732	2	1	241	1	0	0	0	0	0	0	0	1	1314	1078	38	1		1	BARHL2	1	91182732	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	62324353	91182732	158067889	3	17055											
FLG2	388698	broad.mit.edu	37	chr1	152325929	152325929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggcttggccatgagtttGttcttgtgattgtggtctgt	3	18	13	7	1	2	2	0	2	2	0	3	2	3	2	2	3	0	3	2	3	0	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:152325929G>A	ENST00000388718.5	-	3	4405	c.4333C>T	c.(4333-4335)Caa>Taa	p.Q1445*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1445					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGAGTTTGTTCTTGTGAT	0.522																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4333-4335)Caa>Taa		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							359	323	336					1																	152325929		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152325929G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4333C>T	1.37:g.152325929G>A	ENSP00000373370:p.Gln1445*					AK056431_uc001ezv.3_Intron	p.Q1445*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4406	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1445					Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.4333C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	39	7.535339	0.98345	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.43	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	10.2062	0.7076	0.00918	0.4693:0.2025:0.131:0.1972	.	.	.	.	X	1445	.	ENSP00000373370:Q1445X	Q	-	1	0	FLG2	150592553	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.133000	0.10451	-0.285000	0.09089	0.297000	0.19635	CAA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152325929	G	A	152325929	4	1	241	1	0	0	0	0	0	1	0	0	5923	1386	48	3	2846	3	FLG2	1	152325929	Nonsense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	61143197	152325929	96924692	4	17056											
SPTA1	6708	broad.mit.edu	37	chr1	158632643	158632643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcaaatcggcatacCaaggactcttgccttgccct	10	10	8	13	1	2	1	1	0	1	1	3	2	2	2	3	2	4	2	3	2	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:158632643C>G	ENST00000368147.4	-	17	2493	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	771					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCGGCATACCAAGGACTCTT	0.468																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2311-2313)ttG>ttC		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							96	95	95					1																	158632643		1901	4124	6025	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632643C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2313G>C	1.37:g.158632643C>G	ENSP00000357129:p.Leu771Phe						p.L771F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			16	2512	-	all_hematologic(112;0.0378)		771					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2313G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714007	0.30413	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.63913	-0.07;-0.07	4.41	2.55	0.30701	.	0.000000	0.26836	N	0.022256	T	0.69433	0.3110	M	0.85462	2.755	0.42200	D	0.991763	D	0.76494	0.999	D	0.83275	0.996	T	0.71087	-0.4694	10	0.87932	D	0	.	5.9736	0.19367	0.0:0.684:0.0:0.316	.	771	P02549	SPTA1_HUMAN	F	771	ENSP00000357130:L771F;ENSP00000357129:L771F	ENSP00000357129:L771F	L	-	3	2	SPTA1	156899267	0.867000	0.29959	0.876000	0.34364	0.077000	0.17291	-0.062000	0.11674	0.495000	0.27882	0.655000	0.94253	TTG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158632643	C	G	158632643	3	3	241	1	0	0	0	0	1	0	0	0	15115	593	21	5	5090	5	SPTA1	1	158632643	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	6306714	158632643	90617978	5	17057											
ABL2	27	broad.mit.edu	37	chr1	179084044	179084044	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttcataaaccttagggggGcatccctcaggctgttccat	9	11	10	11	0	2	0	2	0	0	0	4	0	4	0	3	4	1	4	3	4	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:179084044G>A	ENST00000502732.1	-	9	1733	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	ABL2_ENST00000344730.3_Silent_p.C495C|ABL2_ENST00000392043.3_Silent_p.C489C|ABL2_ENST00000408940.3_Silent_p.C474C|ABL2_ENST00000367623.4_Silent_p.C489C|ABL2_ENST00000504405.1_Silent_p.C474C|ABL2_ENST00000512653.1_Silent_p.C495C|ABL2_ENST00000511413.1_Silent_p.C510C|ABL2_ENST00000507173.1_Silent_p.C489C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.P476fs*7(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTAGGGGGGCATCCCTCAG	0.383			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		1	Deletion - Frameshift(1)	p.P476fs*7(1)	ovary(1)	breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1528-1530)tgC>tgT		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						110	114	113					1																	179084044		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084044G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1530C>T	1.37:g.179084044G>A						ABL2_uc010pnf.2_Silent_p.C510C|ABL2_uc010png.2_Silent_p.C489C|ABL2_uc010pnh.2_Silent_p.C489C|ABL2_uc009wxe.3_Silent_p.C489C|ABL2_uc001gmg.4_Silent_p.C495C|ABL2_uc001gmi.4_Silent_p.C495C|ABL2_uc010pne.2_Silent_p.C474C	p.C510C	NM_007314	NP_009298	P42684	ABL2_HUMAN			8	1817	-			510			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.1530C>T	CCDS30947.1																																																																																				0.383	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		A	179084044	G	A	179084044	2	1	241	1	0	0	0	0	0	0	0	1	93	1195	42	3		3	ABL2	1	179084044	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	20451401	179084044	70166577	6	17058											
USH2A	7399	broad.mit.edu	37	chr1	216256823	216256823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatcaggtccatctttgTtataaacgaaaagaagcaat	18	10	7	6	1	2	1	1	0	1	1	3	3	3	1	1	1	2	2	1	1	9	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:216256823T>C	ENST00000307340.3	-	26	5659	c.5273A>G	c.(5272-5274)aAc>aGc	p.N1758S	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1758S|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)	p.N1758T(2)|p.N1758N(1)	lung(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5272-5274)aAc>aGc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							95	99	97					1																	216256823		2202	4299	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256823T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5273A>G	1.37:g.216256823T>C	ENSP00000305941:p.Asn1758Ser	HNSCC(13;0.011)					p.N1758S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5660	-			1758			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5273A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209532	0.58343	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	T	0.77987	0.4213	L	0.33245	0.995	0.33056	D	0.53345	D	0.71674	0.998	D	0.64506	0.926	T	0.79011	-0.1977	10	0.31617	T	0.26	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	S	1758	ENSP00000305941:N1758S;ENSP00000355910:N1758S	ENSP00000305941:N1758S	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216256823	T	C	216256823	3	2	241	1	0	0	0	0	1	0	0	0	17033	1725	60	4	10523	4	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	37172779	216256823	32993798	7	17059											
CEP68	23177	broad.mit.edu	37	chr2	65296813	65296813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggcccctctagagccCaccagccacaggccagtgat	8	5	11	17	1	1	2	0	1	1	1	1	2	1	2	6	3	2	0	6	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:65296813C>T	ENST00000377990.2	+	2	438	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	CEP68_ENST00000260569.4_Missense_Mutation_p.H79Y|CEP68_ENST00000546106.1_Missense_Mutation_p.H79Y|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	79					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCTAGAGCCCACCAGCCACA	0.637																																						uc002sdl.4																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(235-237)Cac>Tac		Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.							34	40	38					2																	65296813		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65296813C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.235C>T	2.37:g.65296813C>T	ENSP00000367229:p.His79Tyr					CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc010yqb.1_Missense_Mutation_p.H79Y|CEP68_uc002sdk.4_Missense_Mutation_p.H79Y|CEP68_uc010yqc.2_Missense_Mutation_p.H79Y|CEP68_uc010yqd.1_Missense_Mutation_p.H79Y	p.H79Y	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			1	449	+			79					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.235C>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.488651	0.01018	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.22539	1.95;1.95;1.95	4.56	0.946	0.19549	.	0.536715	0.17030	N	0.189750	T	0.06096	0.0158	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.41270	-0.9518	10	0.02654	T	1	0.8787	6.9479	0.24528	0.0:0.2424:0.0:0.7576	.	67;79;79;79;79	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	Y	79;79;79;67	ENSP00000367229:H79Y;ENSP00000438306:H79Y;ENSP00000260569:H79Y	ENSP00000260569:H79Y	H	+	1	0	CEP68	65150317	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.004000	0.13106	0.162000	0.19483	-1.311000	0.01308	CAC		0.637	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		T	65296813	C	T	65296813	3	4	241	1	0	0	0	0	1	0	0	0	3258	594	21	3	237	3	CEP68	2	65296813	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		65296813	177902560	8	17060											
SUCLG1	8802	broad.mit.edu	37	chr2	84652596	84652596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccacaactcctgcactCtgaagggcagagatcttctc	10	9	8	14	0	3	3	0	2	3	1	5	4	4	3	2	1	2	2	2	1	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:84652596C>A	ENST00000393868.2	-	8	1167	c.957G>T	c.(955-957)caG>caT	p.Q319H	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	319					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTCCTGCACTCTGAAGGGCAG	0.532																																					Ovarian(48;203 1101 37206 40305 50790)	uc002son.3																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(955-957)caG>caT		Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						128	115	119					2																	84652596		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84652596C>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.957G>T	2.37:g.84652596C>A	ENSP00000377446:p.Gln319His						p.Q319H	NM_003849	NP_003840	P53597	SUCA_HUMAN			7	1150	-			319					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.957G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757261	0.69648	.	.	ENSG00000163541	ENST00000393868	T	0.74106	-0.81	5.97	5.97	0.96955	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	L	0.46741	1.465	0.80722	D	1	P	0.49635	0.926	P	0.51516	0.672	T	0.79349	-0.1840	10	0.72032	D	0.01	-19.052	17.9326	0.89002	0.0:1.0:0.0:0.0	.	319	P53597	SUCA_HUMAN	H	319	ENSP00000377446:Q319H	ENSP00000377446:Q319H	Q	-	3	2	SUCLG1	84506107	1.000000	0.71417	0.861000	0.33841	0.878000	0.50629	4.814000	0.62627	2.836000	0.97738	0.655000	0.94253	CAG		0.532	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		A	84652596	C	A	84652596	3	1	241	1	0	0	0	0	1	0	0	0	15363	912	32	5	91	5	SUCLG1	2	84652596	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	19355783	84652596	158546777	9	17061											
CD8B	926	broad.mit.edu	37	chr2	87073862	87073862	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaggacgccagccacCagcaggccaagggtgatggg	12	2	15	12	1	0	2	0	1	0	1	0	3	0	3	5	4	3	1	5	4	2	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:87073862C>G	ENST00000390655.6	-	4	586	c.528G>C	c.(526-528)ctG>ctC	p.L176L	CD8B_ENST00000393759.2_Silent_p.L176L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000331469.2_Silent_p.L176L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	176					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CGCCAGCCACCAGCAGGCCAA	0.532																																						uc002srw.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(526-528)ctG>ctC		Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.							52	41	45					2																	87073862		2188	4282	6470	SO:0001819	synonymous_variant	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87073862C>G		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.528G>C	2.37:g.87073862C>G						RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.L176L|CD8B_uc002sry.3_Intron|CD8B_uc010fgt.3_Intron|CD8B_uc002srz.3_Silent_p.L176L|CD8B_uc010yto.2_Silent_p.L176L	p.L176L	NM_172213	NP_757362	P10966	CD8B_HUMAN			3	587	-			176					P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	c.528G>C	CCDS1997.1																																																																																				0.532	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		G	87073862	C	G	87073862	2	3	241	1	0	0	0	0	0	0	0	1	3045	581	21	5		5	CD8B	2	87073862	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	2421266	87073862	156125511	10	17062											
TBC1D8	11138	broad.mit.edu	37	chr2	101670635	101670635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtacagccagccctggCggggcaccctgcccttccaa	7	6	12	16	1	0	1	0	1	0	0	1	1	1	1	5	4	4	2	5	4	2	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:101670635C>T	ENST00000376840.4	-	4	520	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TBC1D8_ENST00000409318.1_Missense_Mutation_p.R189H			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	174	GRAM 1.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCAGCCCTGGCGGGGCACCCT	0.587																																						uc010fiv.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(520-522)cGc>cAc		Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.							36	43	40					2																	101670635		2135	4274	6409	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101670635C>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.521G>A	2.37:g.101670635C>T	ENSP00000366036:p.Arg174His					TBC1D8_uc010yvw.2_Missense_Mutation_p.R189H|TBC1D8_uc002tau.4_5'UTR	p.R174H	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			3	652	-			174			GRAM 1.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.521G>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435529	0.96150	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	D;D	0.87650	-2.28;-2.28	5.78	5.78	0.91487	GRAM (2);	.	.	.	.	D	0.93187	0.7830	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.93022	0.6441	9	0.66056	D	0.02	-15.1167	20.0216	0.97506	0.0:1.0:0.0:0.0	.	189;174	B7Z6L4;O95759	.;TBCD8_HUMAN	H	174;189	ENSP00000366036:R174H;ENSP00000386856:R189H	ENSP00000366036:R174H	R	-	2	0	TBC1D8	101037067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.688000	0.84153	2.735000	0.93741	0.650000	0.86243	CGC		0.587	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		T	101670635	C	T	101670635	3	4	241	1	0	0	0	0	1	0	0	0	15622	768	27	1	2969	1	TBC1D8	2	101670635	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	14596773	101670635	141528738	11	17063											
IL1R2	7850	broad.mit.edu	37	chr2	102644815	102644815	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatggtctgactgtgctAtggcctcatcatcaagactt	9	12	10	10	0	4	3	3	1	1	2	4	3	4	3	1	2	1	2	1	2	2	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:102644815A>G	ENST00000332549.3	+	9	1387	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L	IL1R2_ENST00000393414.2_Silent_p.L386L|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	386					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGACTGTGCTATGGCCTCATC	0.448																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(1156-1158)ctA>ctG		Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	Anakinra(DB00026)						135	111	119					2																	102644815		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102644815A>G	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1158A>G	2.37:g.102644815A>G						IL1R2_uc002tbn.3_Silent_p.L386L	p.L386L	NM_004633	NP_775465	P27930	IL1R2_HUMAN			8	1387	+			386					D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.1158A>G	CCDS2054.1																																																																																				0.448	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		G	102644815	A	G	102644815	2	3	241	1	0	0	0	0	0	0	0	1	7659	436	16	4		4	IL1R2	2	102644815	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	974180	102644815	140554558	12	17064											
IL18RAP	8807	broad.mit.edu	37	chr2	103040874	103040874	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtaacctggtacaaGgtaagagtgaattctctaaa	14	9	10	8	1	1	2	0	1	1	1	2	2	1	2	2	3	3	3	2	3	7	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:103040874G>A	ENST00000264260.2	+	5	1168	c.579G>A	c.(577-579)aaG>aaA	p.K193K	IL18RAP_ENST00000409369.1_Splice_Site_p.K51K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	193	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTGGTACAAGGTAAGAGTGA	0.413																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.e5+1		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							72	73	73					2																	103040874		2203	4300	6503	SO:0001630	splice_region_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040874G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.579+1G>A	2.37:g.103040874G>A						IL18RAP_uc010fiz.3_Splice_Site_p.K51_splice	p.K193_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN			5	1063	+			193			Ig-like C2-type 1.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.579_splice	CCDS2061.1																																																																																				0.413	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	Silent	A	103040874	G	A	103040874	5	1	241	1	0	0	0	0	0	0	1	0	7648	1014	35	3	589	3	IL18RAP	2	103040874	Splice_Site	SNP	G	TCGA-32-5222-01A-01D-1486-08	396059	103040874	140158499	13	17065											
IRS1	3667	broad.mit.edu	37	chr2	227660008	227660008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccccaggcctcagccaCacattctcaaaggaagcaga	13	5	8	15	0	2	1	2	0	1	1	4	2	3	2	4	2	3	2	4	2	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:227660008C>T	ENST00000305123.5	-	1	4467	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1149					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTCAGCCACACATTCTCAA	0.617																																						uc021vxn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3445-3447)gtG>gtA		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							48	54	52					2																	227660008		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660008C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3447G>A	2.37:g.227660008C>T						IRS1_uc002voh.4_Silent_p.V1149V	p.V1149V	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	3447	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1149						Silent	SNP	ENST00000305123.5	37	c.3447G>A	CCDS2463.1																																																																																				0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227660008	C	T	227660008	2	4	241	1	0	0	0	0	0	0	0	1	7840	465	17	3		3	IRS1	2	227660008	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	124619134	227660008	15539365	14	17066											
CAMK1	8536	broad.mit.edu	37	chr3	9802446	9802446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatagaagggagggtaaccGcagagcctgggcagggagaa	13	4	17	7	1	1	3	1	0	0	3	1	5	1	4	2	4	2	3	2	4	4	2	rs138951531		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:9802446G>A	ENST00000256460.3	-	8	816	c.639C>T	c.(637-639)tgC>tgT	p.C213C	OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAGGGTAACCGCAGAGCCTGG	0.557																																						uc003bst.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(637-639)tgC>tgT		Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.		G	,,,,,	0,4406		0,0,2203	77	72	74		639,,,,,	1.2	1	3	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron,intron,intron	OGG1,CAMK1	NM_003656.4,NM_016821.2,NM_016826.2,NM_016827.2,NM_016828.2,NM_016829.2	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	213/371,,,,,	9802446	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9802446G>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.639C>T	3.37:g.9802446G>A						OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	p.C213C	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	7	824	-	Medulloblastoma(99;0.227)		213			Protein kinase.		Q3KPF6	Silent	SNP	ENST00000256460.3	37	c.639C>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003512	0.19121	0.0	1.16E-4	ENSG00000134072	ENST00000421120	.	.	.	5.13	1.2	0.21068	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45352	-0.9267	4	.	.	.	-14.9127	7.9807	0.30181	0.4607:0.0:0.5393:0.0	.	.	.	.	W	60	.	.	R	-	1	2	CAMK1	9777446	0.995000	0.38212	0.998000	0.56505	0.817000	0.46193	0.397000	0.20883	0.160000	0.19432	-0.136000	0.14681	CGG		0.557	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		A	9802446	G	A	9802446	2	1	241	1	0	0	0	0	0	0	0	1	2596	1079	38	1		1	CAMK1	3	9802446	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		9802446	188219984	15	17067											
ENTPD3	956	broad.mit.edu	37	chr3	40457378	40457378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatggagtggaaaccacGggtgccctggacttaggtgg	8	7	16	10	2	0	0	0	0	0	0	0	3	0	3	3	6	2	1	3	6	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:40457378G>A	ENST00000301825.3	+	7	763	c.645G>A	c.(643-645)acG>acA	p.T215T	ENTPD3_ENST00000456402.1_Silent_p.T215T|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.T215T	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	215					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGAAACCACGGGTGCCCTGG	0.537																																						uc003ckd.4																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(643-645)acG>acA		Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.							88	73	78					3																	40457378		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457378G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.645G>A	3.37:g.40457378G>A						ENTPD3_uc010hhy.3_Silent_p.T215T|ENTPD3-AS1_uc003cke.4_Intron	p.T215T	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	6	737	+			215					B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.645G>A	CCDS2691.1																																																																																				0.537	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		A	40457378	G	A	40457378	2	1	241	1	0	0	0	0	0	0	0	1	5140	1103	39	2		2	ENTPD3	3	40457378	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	30654932	40457378	157565052	16	17068											
TRAK1	22906	broad.mit.edu	37	chr3	42261046	42261046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccttcaccacctgtcGcatcctgcatccttcagatg	7	12	5	17	1	3	1	3	0	0	1	6	1	5	1	5	0	1	2	5	0	0	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:42261046G>A	ENST00000327628.5	+	15	2424	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R617H|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	675					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCACCTGTCGCATCCTGCAT	0.552																																					GBM(44;195 884 22595 31865 41850)	uc003cky.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2023-2025)cGc>cAc		Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.							220	214	216					3																	42261046		2065	4210	6275	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42261046G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2024G>A	3.37:g.42261046G>A	ENSP00000328998:p.Arg675His					TRAK1_uc011azi.2_Missense_Mutation_p.R654H|U4_uc021wwj.1_5'Flank	p.R675H	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			14	2240	+			675					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2024G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732925	0.89482	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.10573	2.88;2.86	5.27	4.37	0.52481	.	0.062767	0.64402	D	0.000009	T	0.29882	0.0747	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.972;0.987	T	0.02728	-1.1118	10	0.72032	D	0.01	.	14.3315	0.66559	0.0:0.0:0.8505:0.1495	.	617;675	C9JC32;Q9UPV9	.;TRAK1_HUMAN	H	675;654;617	ENSP00000328998:R675H;ENSP00000379478:R617H	ENSP00000328998:R675H	R	+	2	0	TRAK1	42236050	1.000000	0.71417	0.979000	0.43373	0.937000	0.57800	9.743000	0.98849	1.280000	0.44463	0.591000	0.81541	CGC		0.552	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		A	42261046	G	A	42261046	3	1	241	1	0	0	0	0	1	0	0	0	16446	1087	38	1	2470	1	TRAK1	3	42261046	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	1803668	42261046	155761384	17	17069											
DOCK3	1795	broad.mit.edu	37	chr3	51418534	51418534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccccagtcaggtctggaCggcagcaactctacgctgtc	8	7	11	15	2	3	0	1	0	2	0	4	1	3	1	2	3	4	3	2	3	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:51418534C>T	ENST00000266037.9	+	53	5660	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1879					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGTCTGGACGGCAGCAACT	0.617																																						uc011bds.2																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5635-5637)gaC>gaT		Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.							64	78	73					3																	51418534		2191	4296	6487	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418534C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5637C>T	3.37:g.51418534C>T							p.D1879D	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	52	5660	+			1879					O15017	Silent	SNP	ENST00000266037.9	37	c.5637C>T	CCDS46835.1																																																																																				0.617	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51418534	C	T	51418534	2	4	241	1	0	0	0	0	0	0	0	1	4688	535	19	1		1	DOCK3	3	51418534	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	9157488	51418534	146603896	18	17070											
POLQ	10721	broad.mit.edu	37	chr3	121208947	121208947	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttaatataagaatcactaAatattgtgttacttttgttc	13	18	5	5	0	1	1	1	0	0	1	2	1	1	1	0	0	1	3	0	0	8	10			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:121208947A>C	ENST00000264233.5	-	16	2959	c.2831T>G	c.(2830-2832)tTt>tGt	p.F944C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	944					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCACTAAATATTGTGTT	0.289								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2830-2832)tTt>tGt	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							43	42	43					3																	121208947		2202	4298	6500	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208947A>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2831T>G	3.37:g.121208947A>C	ENSP00000264233:p.Phe944Cys					POLQ_uc003eed.3_Missense_Mutation_p.F116C	p.F944C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	15	2960	-			944					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2831T>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812514	0.50527	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50277	0.75	5.62	0.593	0.17478	.	0.869211	0.10201	N	0.703397	T	0.46347	0.1388	L	0.29908	0.895	0.09310	N	1	P;D	0.67145	0.878;0.996	B;P	0.56216	0.264;0.794	T	0.38112	-0.9676	10	0.38643	T	0.18	.	9.0866	0.36586	0.7218:0.0:0.2782:0.0	.	944;116	O75417;O75417-2	DPOLQ_HUMAN;.	C	567;944;1080	ENSP00000264233:F944C	ENSP00000264233:F944C	F	-	2	0	POLQ	122691637	0.001000	0.12720	0.000000	0.03702	0.576000	0.36127	1.213000	0.32407	0.384000	0.24942	0.455000	0.32223	TTT		0.289	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121208947	A	C	121208947	3	2	241	1	0	0	0	0	1	0	0	0	12208	14	1	5	5001	5	POLQ	3	121208947	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	69790413	121208947	76813483	19	17071											
COL6A5	256076	broad.mit.edu	37	chr3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaccttttgtaaagaCggaagacaatggaagtgact	16	9	10	6	1	1	4	1	1	0	3	1	6	1	6	1	2	0	1	1	2	6	3	rs368040060	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:130174391C>T	ENST00000432398.2	+	37	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_ENST00000265379.6_Missense_Mutation_p.T2224M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2224	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T|||	2	0.000399361	8e-04	0	5008	,	,		15726	0		0	False		,,,				2504	0.001					uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6670-6672)aCg>aTg		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.		T	MET/THR	1,3613		0,1,1806	61	60	60		6671	3.2	0	3		60	0,8140		0,0,4070	no	missense	COL6A5	NM_153264.5	81	0,1,5876	TT,TC,CC		0.0,0.0277,0.0085	benign	2224/2527	130174391	1,11753	1807	4070	5877	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174391C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6671C>T	3.37:g.130174391C>T	ENSP00000390895:p.Thr2224Met					COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	p.T2224M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			36	7165	+			2224			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6671C>T		.	.	.	.	.	.	.	.	.	.	T	3.893	-0.023581	0.07634	2.77E-4	0.0	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.88741	-2.33;-2.42;-0.93;-0.81	4.38	3.19	0.36642	.	1.373030	0.05646	N	0.584364	T	0.72938	0.3523	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.61491	-0.7052	10	0.33141	T	0.24	.	4.6547	0.12611	0.0:0.102:0.1934:0.7046	.	2224;2224	A8TX70;A8TX70-2	CO6A5_HUMAN;.	M	2224;2224;167;59	ENSP00000390895:T2224M;ENSP00000265379:T2224M;ENSP00000362250:T167M;ENSP00000424968:T59M	ENSP00000265379:T2224M	T	+	2	0	COL6A5	131657081	0.004000	0.15560	0.007000	0.13788	0.002000	0.02628	0.609000	0.24238	0.287000	0.22375	-0.269000	0.10298	ACG		0.353	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130174391	C	T	130174391	3	4	241	1	0	0	0	0	1	0	0	0	3702	536	19	1	6813	1	COL6A5	3	130174391	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	8965444	130174391	67848039	20	17072											
ARMC8	25852	broad.mit.edu	37	chr3	137964018	137964018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgatgaagacatccGgaagaaggtgagtctgggag	15	6	15	5	1	1	5	0	3	1	2	2	7	2	7	1	3	1	1	1	3	4	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:137964018G>A	ENST00000469044.1	+	12	1398	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	ARMC8_ENST00000461822.1_Missense_Mutation_p.R309Q|ARMC8_ENST00000481646.1_Missense_Mutation_p.R362Q|ARMC8_ENST00000393058.3_Missense_Mutation_p.R366Q|ARMC8_ENST00000491704.1_Missense_Mutation_p.R334Q|ARMC8_ENST00000358441.2_Missense_Mutation_p.R362Q|ARMC8_ENST00000470821.1_Missense_Mutation_p.R376Q|ARMC8_ENST00000471453.1_Missense_Mutation_p.R362Q|ARMC8_ENST00000485396.1_Missense_Mutation_p.R303Q|ARMC8_ENST00000538260.1_Missense_Mutation_p.R345Q|ARMC8_ENST00000489213.1_Missense_Mutation_p.R334Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	376										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GAAGACATCCGGAAGAAGGTG	0.522																																						uc003esa.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1084-1086)cGg>cAg		Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.							66	63	64					3																	137964018		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137964018G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1127G>A	3.37:g.137964018G>A	ENSP00000419413:p.Arg376Gln					ARMC8_uc003erw.3_Missense_Mutation_p.R362Q|ARMC8_uc003erx.3_Missense_Mutation_p.R362Q|ARMC8_uc003ery.3_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	p.R362Q	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			12	1452	+			376					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1085G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900217|4.900217	0.92035|0.92035	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000469860|ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.69561	.|-0.12;-0.12;-0.12;0.18;-0.41;1.31;1.31;0.18;0.14;1.31;-0.12;1.53	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82291|0.82291	0.5005|0.5005	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.994;1.0;0.998;1.0	.|D;D;D;P;D;D;D	.|0.97110	.|0.998;0.984;1.0;0.885;0.999;0.979;0.992	D|D	0.84484|0.84484	0.0607|0.0607	5|10	.|0.87932	.|D	.|0	-2.5274|-2.5274	16.7031|16.7031	0.85364|0.85364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|303;309;345;376;362;376;362	.|B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.|.;.;.;ARMC8_HUMAN;.;.;.	R|Q	90|362;376;334;362;334;309;303;362;376;345;366;270;233	.|ENSP00000420333:R362Q;ENSP00000419413:R376Q;ENSP00000417304:R334Q;ENSP00000351221:R362Q;ENSP00000418412:R334Q;ENSP00000420706:R309Q;ENSP00000417049:R303Q;ENSP00000420440:R362Q;ENSP00000418405:R376Q;ENSP00000441592:R345Q;ENSP00000376778:R366Q;ENSP00000417403:R270Q	.|ENSP00000351221:R362Q	G|R	+|+	1|2	0|0	ARMC8|ARMC8	139446708|139446708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.522	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		A	137964018	G	A	137964018	3	1	241	1	0	0	0	0	1	0	0	0	957	1116	39	2	1131	2	ARMC8	3	137964018	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	7789627	137964018	60058412	21	17073											
SERPINI1	5274	broad.mit.edu	37	chr3	167508226	167508226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagagccaatatgtgaTgaaaattgccaattccttgt	15	12	8	6	0	0	3	0	2	0	1	1	4	1	3	3	0	2	0	3	0	7	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:167508226T>C	ENST00000295777.5	+	3	748	c.317T>C	c.(316-318)aTg>aCg	p.M106T	SERPINI1_ENST00000446050.2_Missense_Mutation_p.M106T	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	106					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAATATGTGATGAAAATTGCC	0.318																																						uc003ffa.4																			0		p.V105V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(316-318)aTg>aCg		Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.							92	95	94					3																	167508226		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508226T>C	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.317T>C	3.37:g.167508226T>C	ENSP00000295777:p.Met106Thr					SERPINI1_uc003ffb.4_Missense_Mutation_p.M106T	p.M106T	NM_001122752	NP_005016	Q99574	NEUS_HUMAN			2	515	+			106					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.317T>C	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883364	0.72410	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.63	5.63	0.86233	Serpin domain (3);	0.251867	0.47852	D	0.000204	D	0.83672	0.5305	L	0.50333	1.59	0.80722	D	1	B	0.30914	0.3	B	0.40477	0.33	D	0.84007	0.0346	10	0.87932	D	0	.	15.8574	0.78989	0.0:0.0:0.0:1.0	.	106	Q99574	NEUS_HUMAN	T	106	ENSP00000420133:M106T;ENSP00000397373:M106T;ENSP00000295777:M106T;ENSP00000420561:M106T	ENSP00000295777:M106T	M	+	2	0	SERPINI1	168990920	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.145000	0.66743	0.528000	0.53228	ATG		0.318	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			C	167508226	T	C	167508226	3	2	241	1	0	0	0	0	1	0	0	0	14118	1464	51	4	323	4	SERPINI1	3	167508226	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	29544208	167508226	30514204	22	17074											
ZNF330	27309	broad.mit.edu	37	chr4	142155058	142155058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagaaaggattcagataCtgagtcatcagatttgttta	14	12	10	5	0	3	4	3	1	0	3	3	5	3	5	0	2	1	2	0	2	3	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:142155058C>T	ENST00000262990.4	+	10	1106	c.878C>T	c.(877-879)aCt>aTt	p.T293I	ZNF330_ENST00000421169.2_Missense_Mutation_p.T233I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	293						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATTCAGATACTGAGTCATCA	0.433																																						uc003iiq.4																			0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(877-879)aCt>aTt		Homo sapiens zinc finger protein 330 (ZNF330), mRNA.							137	141	140					4																	142155058		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142155058C>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.878C>T	4.37:g.142155058C>T	ENSP00000262990:p.Thr293Ile					ZNF330_uc011chl.2_Missense_Mutation_p.T233I	p.T293I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			9	1098	+	all_hematologic(180;0.162)		293					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.878C>T	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	C	6.752	0.507644	0.12883	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	T;T	0.30182	1.54;1.54	5.87	3.25	0.37280	.	0.591204	0.19391	N	0.115420	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.18808	-1.0325	10	0.62326	D	0.03	-46.1342	11.3669	0.49677	0.0:0.8047:0.0:0.1953	.	233;293	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	I	293;233	ENSP00000262990:T293I;ENSP00000397397:T233I	ENSP00000262990:T293I	T	+	2	0	ZNF330	142374508	0.006000	0.16342	0.484000	0.27391	0.458000	0.32498	1.740000	0.38228	0.496000	0.27904	-0.140000	0.14226	ACT		0.433	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		T	142155058	C	T	142155058	3	4	241	1	0	0	0	0	1	0	0	0	17845	565	20	3	912	3	ZNF330	4	142155058	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		142155058	48999218	23	17075											
SPOCK3	50859	broad.mit.edu	37	chr4	167656162	167656162	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcttcatcattcataatAtcgtcttcatcatcctcatc	10	17	1	13	1	9	0	7	0	2	0	12	0	10	0	1	0	0	0	1	0	2	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:167656162A>G	ENST00000357154.3	-	12	1358	c.1221T>C	c.(1219-1221)gaT>gaC	p.D407D	SPOCK3_ENST00000541637.1_Silent_p.D309D|SPOCK3_ENST00000535728.1_Silent_p.D275D|SPOCK3_ENST00000511269.1_Silent_p.D404D|SPOCK3_ENST00000512681.1_Silent_p.D309D|SPOCK3_ENST00000541354.1_Silent_p.D287D|SPOCK3_ENST00000510741.1_Silent_p.D364D|SPOCK3_ENST00000511531.1_Silent_p.D407D|SPOCK3_ENST00000504953.1_Silent_p.D404D|SPOCK3_ENST00000502330.1_Silent_p.D407D|SPOCK3_ENST00000421836.2_Silent_p.D356D|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.D404D|SPOCK3_ENST00000506886.1_Silent_p.D407D|SPOCK3_ENST00000534949.1_Silent_p.D311D	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	407	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		cattcataatatcgtcttcat	0.358																																						uc011cjq.1																			0		p.D415V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(1246-1248)gaT>gaC		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							195	182	186					4																	167656162		2203	4299	6502	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656162A>G	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1221T>C	4.37:g.167656162A>G						SPOCK3_uc021xuf.1_Silent_p.D407D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003iri.1_Silent_p.D407D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cjp.2_Silent_p.D364D|SPOCK3_uc011cju.1_Silent_p.D311D|SPOCK3_uc011cjv.1_Silent_p.D309D	p.D416D	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	9	1305	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	407			Asp-rich.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.1248T>C	CCDS54817.1																																																																																				0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			G	167656162	A	G	167656162	2	3	241	1	0	0	0	0	0	0	0	1	15080	446	16	4		4	SPOCK3	4	167656162	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	25501104	167656162	23498114	24	17076											
DNAH5	1767	broad.mit.edu	37	chr5	13766102	13766102	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgtaagttctgtaaaaAgttccctgcagtcatcaatt	13	13	6	9	0	3	0	2	0	1	0	4	0	4	0	2	0	2	5	2	0	6	5	rs373406041		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:13766102A>T	ENST00000265104.4	-	59	10188	c.10084T>A	c.(10084-10086)Ttt>Att	p.F3362I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3362	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGTAAAAAGTTCCCTGCA	0.418									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10084-10086)Ttt>Att		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.		A	ILE/PHE	1,4405	2.1+/-5.4	0,1,2202	117	119	118		10084	5.6	1	5		118	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	21	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging	3362/4625	13766102	1,13005	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766102A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10084T>A	5.37:g.13766102A>T	ENSP00000265104:p.Phe3362Ile					DNAH5_uc003jfc.2_5'UTR	p.F3362I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			58	10126	-	Lung NSC(4;0.00476)		3362			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10084T>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915151	0.92178	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.61510	0.1	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.101562	0.64402	D	0.000002	D	0.84656	0.5520	H	0.98155	4.16	0.80722	D	1	P	0.47910	0.902	D	0.64776	0.929	D	0.90095	0.4180	10	0.87932	D	0	.	15.8854	0.79244	1.0:0.0:0.0:0.0	.	3362	Q8TE73	DYH5_HUMAN	I	3362	ENSP00000265104:F3362I	ENSP00000265104:F3362I	F	-	1	0	DNAH5	13819102	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.093000	0.94163	2.150000	0.67090	0.456000	0.33151	TTT		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13766102	A	T	13766102	3	4	241	1	0	0	0	0	1	0	0	0	4604	72	3	5	3874	5	DNAH5	5	13766102	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08		13766102	167149158	25	17077											
PCDHA13	56136	broad.mit.edu	37	chr5	140263516	140263516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgacgctgcaggtgttcGtgctggacgagaacgacaac	10	7	14	10	5	0	2	0	1	0	1	1	5	0	3	0	2	4	4	0	2	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140263516G>A	ENST00000289272.2	+	1	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V555M|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1663-1665)Gtg>Atg		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							67	73	71					5																	140263516		2203	4297	6500	SO:0001583	missense	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263516G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1663G>A	5.37:g.140263516G>A	ENSP00000289272:p.Val555Met					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.V555M|PCDHAC2_uc003lid.3_Missense_Mutation_p.V555M	p.V555M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1663	+			569			Cadherin 5.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1663G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922816	0.52653	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.68181	-0.31;-0.31	4.08	4.08	0.47627	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83271	0.5218	M	0.90650	3.135	0.24944	N	0.991835	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.73550	-0.3947	9	0.87932	D	0	.	9.8562	0.41088	0.0957:0.0:0.9043:0.0	.	555;555;555	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	M	555	ENSP00000386821:V555M;ENSP00000289272:V555M	ENSP00000289272:V555M	V	+	1	0	PCDHA13	140243700	0.995000	0.38212	1.000000	0.80357	0.906000	0.53458	2.470000	0.45119	2.073000	0.62155	0.561000	0.74099	GTG		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		A	140263516	G	A	140263516	3	1	241	1	0	0	0	0	1	0	0	0	11523	1145	40	1	1665	1	PCDHA13	5	140263516	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	126497414	140263516	40651744	26	17078											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgctcaccgtagccGtggctgacagcatccccgaa	8	7	10	16	4	2	1	2	1	0	0	3	2	3	1	4	1	2	4	4	1	2	1	rs143444747	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140774370G>A	ENST00000398604.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTAGCCGTGGCTGACAG	0.627													.|||	2	0.000399361	0.0015	0	5008	,	,		18790	0		0	False		,,,				2504	0					uc003lkd.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1990-1992)Gtg>Atg		Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.							41	48	46					5																	140774370		2202	4300	6502	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774370G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1990G>A	5.37:g.140774370G>A	ENSP00000381605:p.Val664Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V664M|PCDHGC5_uc003lkc.2_Intron	p.V664M	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2888	+			666			Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1990G>A	CCDS47291.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	14.77	2.633982	0.47049	.	.	ENSG00000253767	ENST00000398604	T	0.68181	-0.31	4.99	2.22	0.28083	Cadherin (4);Cadherin-like (1);	0.000000	0.28624	U	0.014693	T	0.78323	0.4265	H	0.94582	3.555	0.26602	N	0.973009	D;D	0.55605	0.972;0.967	P;P	0.53912	0.737;0.501	T	0.71467	-0.4584	10	0.72032	D	0.01	.	4.0234	0.09677	0.1453:0.1273:0.5959:0.1314	.	664;664	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	664	ENSP00000381605:V664M	ENSP00000381605:V664M	V	+	1	0	PCDHGA8	140754554	0.000000	0.05858	0.202000	0.23494	0.838000	0.47535	-0.464000	0.06688	0.167000	0.19631	0.650000	0.86243	GTG		0.627	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		A	140774370	G	A	140774370	3	1	241	1	0	0	0	0	1	0	0	0	11560	1145	40	1	1992	1	PCDHGA8	5	140774370	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	510854	140774370	40140890	27	17079											
OR10C1	442194	broad.mit.edu	37	chr6	29408448	29408448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggctcctacgggcGtatcctcgttaccatcttcc	5	12	8	16	3	1	0	0	0	1	0	6	0	5	0	5	2	2	3	5	2	3	4	rs74711365		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:29408448G>T	ENST00000444197.2	+	1	1366	c.656G>T	c.(655-657)cGt>cTt	p.R219L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582																																						uc011dlp.2																			0		p.R219C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(655-657)cGt>cTt		Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.							201	215	210					6																	29408448		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408448G>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.656G>T	6.37:g.29408448G>T	ENSP00000419119:p.Arg219Leu					OR11A1_uc010jrh.1_Intron	p.R219L	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			0	733	+			219					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.656G>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724693	0.15439	.	.	ENSG00000206474	ENST00000444197	T	0.00042	8.84	3.49	-0.39	0.12450	GPCR, rhodopsin-like superfamily (1);	1.341410	0.05509	N	0.559845	T	0.00073	0.0002	L	0.39326	1.205	0.09310	N	1	B	0.32425	0.371	B	0.44085	0.44	T	0.01294	-1.1393	10	0.33940	T	0.23	.	3.7393	0.08523	0.5714:0.0:0.2392:0.1894	.	219	Q96KK4	O10C1_HUMAN	L	219	ENSP00000419119:R219L	ENSP00000419119:R219L	R	+	2	0	OR10C1	29516427	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.281000	0.01157	-0.067000	0.12976	-0.199000	0.12753	CGT		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			T	29408448	G	T	29408448	3	4	241	1	0	0	0	0	1	0	0	0	10898	1145	40	5	658	5	OR10C1	6	29408448	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		29408448	141706619	28	17080											
KIF6	221458	broad.mit.edu	37	chr6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactttacgcatatccGcgccaacctctaatctactg	11	11	6	13	3	2	1	0	1	2	0	3	2	3	1	3	0	4	1	3	0	6	5	rs201860401		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:39513399G>A	ENST00000287152.7	-	11	1341	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_ENST00000538893.1_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000373213.4_Missense_Mutation_p.A255V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													G|||	1	0.000199681	0	0	5008	,	,		18854	0		0.001	False		,,,				2504	0					uc003oot.2																			0		p.G415G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1246-1248)gCg>gTg		Homo sapiens kinesin family member 6 (KIF6), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	119	115	116		1247	5.6	0	6		116	0,8600		0,0,4300	yes	missense	KIF6	NM_145027.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	416/815	39513399	1,13005	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513399G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1247C>T	6.37:g.39513399G>A	ENSP00000287152:p.Ala416Val					KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V	p.A416V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			10	1342	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1247C>T	CCDS4844.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.71|12.71	2.019617|2.019617	0.35606|0.35606	2.27E-4|2.27E-4	0.0|0.0	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72615|.	-0.65;-0.64;-0.47;-0.64;-0.67|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.62441|0.62441	0.2428|0.2428	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.46784|.	0.884;0.158;0.297;0.816|.	B;B;B;B|.	0.40506|.	0.331;0.147;0.095;0.124|.	T|T	0.60900|0.60900	-0.7171|-0.7171	9|5	0.28530|.	T|.	0.3|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;416;416;416|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	V|W	416;416;255;416;416|308	ENSP00000287152:A416V;ENSP00000362312:A416V;ENSP00000362309:A255V;ENSP00000362311:A416V;ENSP00000441435:A416V|.	ENSP00000287152:A416V|.	A|R	-|-	2|1	0|2	KIF6|KIF6	39621377|39621377	0.380000|0.380000	0.25131|0.25131	0.019000|0.019000	0.16419|0.16419	0.304000|0.304000	0.27724|0.27724	5.193000|5.193000	0.65120|0.65120	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		A	39513399	G	A	39513399	3	1	241	1	0	0	0	0	1	0	0	0	8308	1087	38	1	1249	1	KIF6	6	39513399	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	10104951	39513399	131601668	29	17081											
TMEM63B	55362	broad.mit.edu	37	chr6	44122464	44122464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcaggactcagaggtGgacggggatggggatggggc	7	6	22	6	1	1	1	1	0	0	1	1	5	1	5	0	9	2	2	0	9	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:44122464G>A	ENST00000259746.9	+	24	2526	c.2343G>A	c.(2341-2343)gtG>gtA	p.V781V	TMEM63B_ENST00000323267.6_Silent_p.V781V			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	781					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACTCAGAGGTGGACGGGGATG	0.607																																						uc003owr.3																			0		p.E780fs*28(1)|p.V781fs*27(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(2341-2343)gtG>gtA		Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.							49	50	49					6																	44122464		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44122464G>A	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2343G>A	6.37:g.44122464G>A						TMEM63B_uc003ows.3_Silent_p.V684V|TMEM63B_uc010jyz.3_Non-coding_Transcript	p.V781V	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		23	2407	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		781					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.2343G>A	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643229	0.14451	.	.	ENSG00000137216	ENST00000371893	.	.	.	3.9	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6307	0.00794	0.2012:0.1535:0.3053:0.34	.	.	.	.	X	710	.	.	W	+	2	0	TMEM63B	44230442	0.004000	0.15560	0.985000	0.45067	0.985000	0.73830	-0.206000	0.09398	0.012000	0.14892	0.462000	0.41574	TGG		0.607	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		A	44122464	G	A	44122464	2	1	241	1	0	0	0	0	0	0	0	1	16188	1335	47	3		3	TMEM63B	6	44122464	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	4609065	44122464	126992603	30	17082											
TDRD6	221400	broad.mit.edu	37	chr6	46656737	46656737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtataccggggttccaCggggacaggggatgagaact	10	6	16	9	2	0	1	0	1	0	1	1	4	1	3	3	7	2	2	3	7	3	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:46656737C>T	ENST00000316081.6	+	1	872	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.T291M|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	291					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGGGTTCCACGGGGACAGGG	0.637																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(871-873)aCg>aTg		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.							38	38	38					6																	46656737		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656737C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.872C>T	6.37:g.46656737C>T	ENSP00000346065:p.Thr291Met					TDRD6_uc010jze.3_Missense_Mutation_p.T291M	p.T291M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	1126	+			291					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.872C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.970	-0.700351	0.03279	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09911	2.93;2.93	5.34	1.09	0.20402	Maternal tudor protein (1);	2.209180	0.01628	N	0.023383	T	0.02455	0.0075	L	0.38175	1.15	0.09310	N	1	P;P	0.40602	0.676;0.723	B;B	0.24541	0.032;0.054	T	0.41893	-0.9483	10	0.46703	T	0.11	-15.468	8.3072	0.32049	0.0:0.5481:0.0:0.4519	.	291;291	F5H5M3;O60522	.;TDRD6_HUMAN	M	291	ENSP00000443299:T291M;ENSP00000346065:T291M	ENSP00000346065:T291M	T	+	2	0	TDRD6	46764696	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.577000	0.02127	-0.003000	0.14444	0.655000	0.94253	ACG		0.637	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46656737	C	T	46656737	3	4	241	1	0	0	0	0	1	0	0	0	15731	536	19	1	874	1	TDRD6	6	46656737	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	2534273	46656737	124458330	31	17083											
GSTA1	2938	broad.mit.edu	37	chr6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctcaggtggacataCgggcagaaggaggatcattt	10	12	12	7	1	2	1	2	0	0	1	3	4	3	4	1	5	1	1	1	5	2	4	rs1051733		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:52659006C>T	ENST00000334575.5	-	5	486	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	111	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393													.|||	1	0.000199681	8e-04	0	5008	,	,		19385	0		0	False		,,,				2504	0					uc003paz.3																			0		p.P110P(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(331-333)Gta>Ata		Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	C	ILE/VAL	0,4406		0,0,2203	187	178	181		331	-5.2	0	6	dbSNP_86	181	1,8599		0,1,4299	no	missense	GSTA1	NM_145740.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	111/223	52659006	1,13005	2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659006C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"Glutathione S-transferases / Soluble"	4626	protein-coding gene	gene with protein product		138359	"glutathione S-transferase A1"			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.331G>A	6.37:g.52659006C>T	ENSP00000335620:p.Val111Ile					GSTA1_uc021zan.1_Missense_Mutation_p.V111I	p.V111I	NM_145740	NP_665683	P08263	GSTA1_HUMAN			4	443	-	Lung NSC(77;0.118)		111			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.331G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	N	0.058	-1.230832	0.01518	0.0	1.16E-4	ENSG00000243955	ENST00000334575	T	0.12255	2.7	2.58	-5.17	0.02849	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.065940	0.07308	N	0.875388	T	0.00815	0.0027	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40156	-0.9578	10	0.45353	T	0.12	.	0.3635	0.00368	0.3254:0.2393:0.2262:0.2091	.	111	P08263	GSTA1_HUMAN	I	111	ENSP00000335620:V111I	ENSP00000335620:V111I	V	-	1	0	GSTA1	52766965	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.587000	0.00422	-4.574000	0.00041	-3.377000	0.00040	GTA		0.393	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			T	52659006	C	T	52659006	3	4	241	1	0	0	0	0	1	0	0	0	6830	536	19	1	349	1	GSTA1	6	52659006	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	6002269	52659006	118456061	32	17084											
DPPA5	340168	broad.mit.edu	37	chr6	74063914	74063914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgggaactttcacccacGgcgggatatgtctacgtgcc	7	10	11	13	4	2	0	1	0	1	0	3	2	2	2	2	3	3	0	2	3	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:74063914G>A	ENST00000370370.3	-	1	104	c.35C>T	c.(34-36)cCg>cTg	p.P12L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	12					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTTCACCCACGGCGGGATATG	0.582																																						uc003pgs.2																			0				NS(1)|endometrium(1)|lung(5)	7						c.(34-36)cCg>cTg		Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.							69	62	64					6																	74063914		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063914G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.35C>T	6.37:g.74063914G>A	ENSP00000359396:p.Pro12Leu						p.P12L	NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN			0	86	-			12					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.35C>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	3.109	-0.183072	0.06340	.	.	ENSG00000203909	ENST00000370370	T	0.11712	2.75	3.6	1.73	0.24493	.	0.144833	0.32655	N	0.005818	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	0.999999	B	0.23990	0.095	B	0.17979	0.02	T	0.43540	-0.9385	10	0.44086	T	0.13	.	4.0911	0.09970	0.123:0.0:0.6459:0.2312	.	12	A6NC42	DPPA5_HUMAN	L	12	ENSP00000359396:P12L	ENSP00000359396:P12L	P	-	2	0	DPPA5	74120635	0.486000	0.25980	0.002000	0.10522	0.088000	0.18126	0.708000	0.25719	0.490000	0.27771	0.485000	0.47835	CCG		0.582	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		A	74063914	G	A	74063914	3	1	241	1	0	0	0	0	1	0	0	0	4737	1116	39	2	327	2	DPPA5	6	74063914	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	21404908	74063914	97051153	33	17085											
KIAA1009	22832	broad.mit.edu	37	chr6	84911454	84911454	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaatataaataatatttaCcattagcaagcatgccagtt	17	13	5	6	0	0	1	0	1	0	0	0	1	0	1	2	0	4	3	2	0	9	8			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:84911454C>G	ENST00000403245.3	-	8	833		c.e8+1		KIAA1009_ENST00000257766.4_Splice_Site	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATAATATTTACCATTAGCAAG	0.264																																						uc010kbp.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.e8+1		Homo sapiens KIAA1009 (KIAA1009), mRNA.							14	15	15					6																	84911454		2164	4236	6400	SO:0001630	splice_region_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84911454C>G																												ENST00000403245.3:c.718+1G>C	6.37:g.84911454C>G						KIAA1009_uc003pkj.4_Splice_Site_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_p.V240_splice	p.V240_splice	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	8	815	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	240						Splice_Site	SNP	ENST00000403245.3	37	c.718_splice	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219259	0.58560	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.26	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6908	0.51514	0.1768:0.8232:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1009	84968173	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.322000	0.59215	1.343000	0.45638	0.563000	0.77884	.		0.264	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		Intron	G	84911454	C	G	84911454	5	3	241	1	0	0	0	0	0	0	1	0	8203	521	18	5	3572	5	KIAA1009	6	84911454	Splice_Site	SNP	C	TCGA-32-5222-01A-01D-1486-08	10847540	84911454	86203613	34	17086											
RAET1G	353091	broad.mit.edu	37	chr6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccacctggccttgaaccGcacaccaccgtggtccaggt	8	7	9	17	2	0	1	0	1	0	0	2	1	2	1	7	3	1	1	7	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532																																						uc010kii.1																			0		p.A51A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(151-153)gCg>gTg		Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.							99	100	100					6																	150240886		2203	4297	6500	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240886G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.152C>T	6.37:g.150240886G>A	ENSP00000356329:p.Ala51Val					RAET1G_uc003qnm.2_Non-coding_Transcript	p.A51V	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	1	220	-		Ovarian(120;0.0907)	51			MHC class I alpha-1 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.152C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934055	0.18206	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.05382	3.45;3.45	2.4	-0.278	0.12894	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B	0.20671	0.047	B	0.25140	0.058	T	0.46190	-0.9209	9	0.41790	T	0.15	.	6.668	0.23052	0.0:0.0:0.5193:0.4807	.	51	Q6H3X3	RET1G_HUMAN	V	51	ENSP00000356329:A51V;ENSP00000417503:A51V	ENSP00000356329:A51V	A	-	2	0	RAET1G	150282579	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.722000	0.04958	-0.045000	0.13468	-0.558000	0.04189	GCG		0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			A	150240886	G	A	150240886	3	1	241	1	0	0	0	0	1	0	0	0	13000	1087	38	1	868	1	RAET1G	6	150240886	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	65329432	150240886	20874181	35	17087											
HECW1	23072	broad.mit.edu	37	chr7	43484403	43484403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtccgagctggagacGgtgatcgcgtcagcctgcgg	5	8	16	12	5	1	2	1	1	0	1	3	4	2	2	3	3	3	1	3	3	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:43484403G>A	ENST00000395891.2	+	11	2237	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	HECW1_ENST00000453890.1_Silent_p.T544T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGAGACGGTGATCGCGT	0.672																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1630-1632)acG>acA		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							41	51	48					7																	43484403		2110	4223	6333	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484403G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1632G>A	7.37:g.43484403G>A						HECW1_uc011kbi.1_Silent_p.T544T	p.T544T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			10	2237	+			544					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1632G>A	CCDS5469.2																																																																																				0.672	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43484403	G	A	43484403	2	1	241	1	0	0	0	0	0	0	0	1	7042	1103	39	2		2	HECW1	7	43484403	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		43484403	115654260	36	17088											
SEMA3C	10512	broad.mit.edu	37	chr7	80433421	80433421	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaacagcattaatacttaCaggacatattcgagcaatca	16	9	7	9	2	1	0	1	0	0	0	2	3	1	2	0	2	5	2	0	2	6	5	rs199843225		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:80433421C>G	ENST00000265361.3	-	8	1363		c.e8+1		SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Splice_Site|SEMA3C_ENST00000419255.2_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTAATACTTACAGGACATATT	0.323																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e8+1		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							139	131	134					7																	80433421		2203	4300	6503	SO:0001630	splice_region_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80433421C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.801+1G>C	7.37:g.80433421C>G						SEMA3C_uc003uhj.3_Splice_Site_p.P267_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	p.P285_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			8	934	-			267			Sema.		B4DRL8	Splice_Site	SNP	ENST00000265361.3	37	c.855_splice	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080978	0.76528	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9328	0.70929	0.0:0.9299:0.0:0.07	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3C	80271357	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.044000	0.71012	2.637000	0.89404	0.585000	0.79938	.		0.323	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	Intron	G	80433421	C	G	80433421	5	3	241	1	0	0	0	0	0	0	1	0	14026	492	17	5	1497	5	SEMA3C	7	80433421	Splice_Site	SNP	C	TCGA-32-5222-01A-01D-1486-08	36949018	80433421	78705242	37	17089											
PCLO	27445	broad.mit.edu	37	chr7	82585982	82585982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttttctgacttttcAtcagcaagtgtacttgcttg	6	20	7	8	0	4	1	2	1	2	0	4	1	4	1	0	0	3	4	0	0	2	9			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:82585982A>G	ENST00000333891.9	-	5	4624	c.4287T>C	c.(4285-4287)gaT>gaC	p.D1429D	PCLO_ENST00000423517.2_Silent_p.D1429D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTTTTCATCAGCAAGTG	0.398																																						uc003uhx.2																			0		p.D1429N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4285-4287)gaT>gaC		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							134	122	126					7																	82585982		1830	4074	5904	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585982A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4287T>C	7.37:g.82585982A>G						PCLO_uc003uhv.2_Silent_p.D1429D	p.D1429D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4576	-			1360						Silent	SNP	ENST00000333891.9	37	c.4287T>C	CCDS47630.1																																																																																				0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82585982	A	G	82585982	2	3	241	1	0	0	0	0	0	0	0	1	11583	214	8	4		4	PCLO	7	82585982	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	2152561	82585982	76552681	38	17090											
ADAM28	10863	broad.mit.edu	37	chr8	24178776	24178776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagatcagaaagagggtaTttgagatggctaattatgtc	14	12	12	3	0	1	4	1	2	0	4	2	6	1	4	0	2	0	2	0	2	4	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:24178776T>C	ENST00000265769.4	+	8	804	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.F232L|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	232	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAAGAGGGTATTTGAGATGGC	0.323																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(694-696)Ttt>Ctt		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.							134	138	137					8																	24178776		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24178776T>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.694T>C	8.37:g.24178776T>C	ENSP00000265769:p.Phe232Leu					ADAM28_uc003xdx.3_Missense_Mutation_p.F232L|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Intron	p.F232L	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	7	777	+		Prostate(55;0.0959)	232			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.694T>C	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643285	0.47153	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.07444	3.19;3.19	5.16	2.78	0.32641	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.04452	0.0122	N	0.16368	0.405	0.80722	D	1	B;B	0.25351	0.026;0.124	B;B	0.29663	0.022;0.105	T	0.35126	-0.9801	9	0.07644	T	0.81	.	6.5071	0.22202	0.0:0.2014:0.0:0.7986	.	232;232	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	L	232	ENSP00000265769:F232L;ENSP00000393699:F232L	ENSP00000265769:F232L	F	+	1	0	ADAM28	24234721	0.937000	0.31787	0.462000	0.27118	0.951000	0.60555	1.465000	0.35299	0.385000	0.24970	0.528000	0.53228	TTT		0.323	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		C	24178776	T	C	24178776	3	2	241	1	0	0	0	0	1	0	0	0	246	1493	52	4	724	4	ADAM28	8	24178776	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08		24178776	122185246	39	17091											
ST18	9705	broad.mit.edu	37	chr8	53044717	53044717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatatgtgaccttggcCatcacaccctatcacaggac	11	9	7	14	0	2	2	2	2	0	0	2	3	2	3	4	2	0	0	4	2	2	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:53044717C>T	ENST00000276480.7	-	22	3150	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	823					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGACCTTGGCCATCACACCCT	0.498																																						uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2467-2469)Ggc>Agc		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							97	81	87					8																	53044717		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53044717C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2467G>A	8.37:g.53044717C>T	ENSP00000276480:p.Gly823Ser					ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	p.G823S	NM_014682	NP_055497	O60284	ST18_HUMAN			16	2623	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	823					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2467G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946750	0.92593	.	.	ENSG00000147488	ENST00000276480	T	0.64438	-0.1	5.37	4.5	0.54988	.	0.050710	0.85682	N	0.000000	T	0.73305	0.3570	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73864	-0.3848	10	0.46703	T	0.11	-13.7419	14.1208	0.65186	0.0:0.9277:0.0:0.0723	.	823	O60284	ST18_HUMAN	S	823	ENSP00000276480:G823S	ENSP00000276480:G823S	G	-	1	0	ST18	53207270	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	5.844000	0.69430	1.389000	0.46526	0.591000	0.81541	GGC		0.498	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53044717	C	T	53044717	3	4	241	1	0	0	0	0	1	0	0	0	15211	594	21	3	696	3	ST18	8	53044717	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	28865941	53044717	93319305	40	17092											
ZNF623	9831	broad.mit.edu	37	chr8	144732707	144732707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtcacagttcagaccTgattaggcaccagagagttc	10	12	10	9	0	2	3	2	1	0	2	3	4	2	3	2	1	0	4	2	1	1	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144732707T>C	ENST00000501748.2	+	1	754	c.665T>C	c.(664-666)cTg>cCg	p.L222P	ZNF623_ENST00000458270.2_Missense_Mutation_p.L182P|ZNF623_ENST00000526926.1_Missense_Mutation_p.L182P	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTTCAGACCTGATTAGGCAC	0.478																																						uc003yzd.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(664-666)cTg>cCg		Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.							87	82	84					8																	144732707		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732707T>C	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.665T>C	8.37:g.144732707T>C	ENSP00000445979:p.Leu222Pro					ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	p.L222P	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		0	754	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		222					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.665T>C	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843899	0.32606	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.53857	0.6;0.6;0.6	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78792	0.4339	H	0.94964	3.605	0.30577	N	0.762951	D	0.89917	1.0	D	0.85130	0.997	T	0.80241	-0.1464	9	0.87932	D	0	-15.767	11.7925	0.52078	0.0:0.0:0.0:1.0	.	222	O75123	ZN623_HUMAN	P	182;182;182;222;222	ENSP00000435232:L182P;ENSP00000411139:L182P;ENSP00000445979:L222P	ENSP00000330358:L182P	L	+	2	0	ZNF623	144803850	0.992000	0.36948	0.833000	0.33012	0.074000	0.17049	7.667000	0.83888	1.945000	0.56424	0.533000	0.62120	CTG		0.478	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		C	144732707	T	C	144732707	3	2	241	1	0	0	0	0	1	0	0	0	18044	1580	55	4	667	4	ZNF623	8	144732707	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	91687990	144732707	1631315	41	17093											
PLEC	5339	broad.mit.edu	37	chr8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcacagagcgctcacctcGctgcagctgctggtagagct	7	8	12	14	3	1	2	1	0	0	2	3	2	1	2	1	1	5	8	1	1	1	1	rs137853161		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137	GRCh37	CM050309	PLEC	M	rs137853161	c.(9415-9417)Cga>Tga		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							20	24	22					8																	144994985		2052	4156	6208	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994985G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9415C>T	8.37:g.144994985G>A	ENSP00000323856:p.Arg3139*					PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	p.R3139*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	9585	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9415C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144994985	G	A	144994985	4	1	241	1	0	0	0	0	0	1	0	0	12052	1095	38	1	4643	1	PLEC	8	144994985	Nonsense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	262278	144994985	1369037	42	17094											
HEMGN	55363	broad.mit.edu	37	chr9	100692686	100692686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctttaggcacaataatttCgttacatgttttatgaggaa	12	15	9	5	1	0	1	0	1	0	0	1	2	0	2	0	3	1	4	0	3	6	7			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:100692686C>T	ENST00000259456.3	-	4	1134	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	331					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358																																						uc004axy.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(991-993)Gaa>Aaa		Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.							243	242	242					9																	100692686		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692686C>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.991G>A	9.37:g.100692686C>T	ENSP00000259456:p.Glu331Lys					HEMGN_uc004axz.3_Missense_Mutation_p.E331K	p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			2	1099	-		Acute lymphoblastic leukemia(62;0.0559)	331					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.991G>A	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	6.018	0.371701	0.11409	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.72	2.9	0.33743	.	0.251464	0.34879	N	0.003608	T	0.21801	0.0525	L	0.38175	1.15	0.09310	N	1	P	0.38827	0.649	B	0.29353	0.101	T	0.11867	-1.0570	9	0.46703	T	0.11	-24.0519	7.7345	0.28806	0.0:0.81:0.0:0.19	.	331	Q9BXL5	HEMGN_HUMAN	K	331	.	ENSP00000259456:E331K	E	-	1	0	HEMGN	99732507	0.305000	0.24481	0.087000	0.20705	0.003000	0.03518	1.068000	0.30629	0.749000	0.32854	-0.736000	0.03550	GAA		0.358	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		T	100692686	C	T	100692686	3	4	241	1	0	0	0	0	1	0	0	0	7050	893	31	2	471	2	HEMGN	9	100692686	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		100692686	40520745	43	17095											
OR13C3	138803	broad.mit.edu	37	chr9	107298286	107298286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggtgagctgagcacGtggaaaatgccttgcgtctt	9	10	13	9	2	2	2	1	2	1	0	2	3	2	3	1	2	4	2	1	2	2	2	rs145157195		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107298286G>A	ENST00000374781.2	-	1	851	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGCTGAGCACGTGGAAAATGC	0.428																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(808-810)aCg>aTg		Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.							126	119	122					9																	107298286		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298286G>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.809C>T	9.37:g.107298286G>A	ENSP00000363913:p.Thr270Met						p.T270M	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			0	809	-			270					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.809C>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908365	0.52333	.	.	ENSG00000204246	ENST00000374781	T	0.42513	0.97	4.54	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000250	T	0.75339	0.3836	H	0.98786	4.33	0.36284	D	0.855994	D	0.89917	1.0	D	0.87578	0.998	T	0.82770	-0.0293	10	0.87932	D	0	.	9.3404	0.38076	0.1777:0.0:0.8223:0.0	.	270	Q8NGS6	O13C3_HUMAN	M	270	ENSP00000363913:T270M	ENSP00000363913:T270M	T	-	2	0	OR13C3	106338107	1.000000	0.71417	0.959000	0.39883	0.723000	0.41478	6.463000	0.73530	0.656000	0.30886	-0.126000	0.14955	ACG		0.428	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			A	107298286	G	A	107298286	3	1	241	1	0	0	0	0	1	0	0	0	10935	1145	40	1	238	1	OR13C3	9	107298286	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	6605600	107298286	33915145	44	17096											
OR13C8	138802	broad.mit.edu	37	chr9	107331551	107331551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgttctaattttgtggatgTacctgatgatcctgcttgga	7	17	10	7	1	1	2	0	2	1	0	3	4	2	4	2	2	2	3	2	2	2	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107331551T>C	ENST00000335040.1	+	1	103	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTGTGGATGTACCTGATGAT	0.443																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(103-105)Tac>Cac		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							265	251	256					9																	107331551		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331551T>C		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.103T>C	9.37:g.107331551T>C	ENSP00000334068:p.Tyr35His						p.Y35H	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			0	103	+			35					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.103T>C	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787971	0.70337	.	.	ENSG00000186943	ENST00000335040	T	0.04654	3.58	4.97	4.97	0.65823	.	0.124104	0.36893	N	0.002346	T	0.27663	0.0680	M	0.92970	3.365	0.40059	D	0.975875	D	0.89917	1.0	D	0.73380	0.98	T	0.21999	-1.0229	10	0.87932	D	0	.	12.9272	0.58266	0.0:0.0:0.0:1.0	.	35	Q8NGS7	O13C8_HUMAN	H	35	ENSP00000334068:Y35H	ENSP00000334068:Y35H	Y	+	1	0	OR13C8	106371372	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.169000	0.77578	2.212000	0.71576	0.533000	0.62120	TAC		0.443	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			C	107331551	T	C	107331551	3	2	241	1	0	0	0	0	1	0	0	0	10938	1638	57	4	105	4	OR13C8	9	107331551	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	33265	107331551	33881880	45	17097											
PTEN	5728	broad.mit.edu	37	chr10	89692902	89692902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcactgtaaagctggaaaggGacgaactggtgtaatgatat	14	10	12	5	1	1	1	1	1	0	0	1	4	1	3	0	3	2	3	0	3	6	3	rs121909218		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr10:89692902G>A	ENST00000371953.3	+	5	1743	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	129	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in CWS1; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation). {ECO:0000269|PubMed:9140396}.|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9072974, ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G129V(3)|p.K128_R130del(3)|p.G129E(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTGGAAAGGGACGAACTGGT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		61	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(4)	p.0?(37)|p.K128_R130del(8)|p.K128N(7)|p.G129R(7)|p.G129V(6)|p.?(5)|p.R55fs*1(5)|p.G129E(4)|p.G129*(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(2)|p.G129fs*51(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.K128Q(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|endometrium(7)|lung(6)|skin(6)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971272	PTEN	M	rs121909218	c.(385-387)gGa>gAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							142	131	135					10																	89692902		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692902G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.386G>A	10.37:g.89692902G>A	ENSP00000361021:p.Gly129Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G129E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1418	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	129		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.386G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029016	0.93518	.	.	ENSG00000171862	ENST00000371953	D	0.85773	-2.03	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	H	0.96691	3.865	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96956	0.9698	8	.	.	.	-11.5269	18.7776	0.91918	0.0:0.0:1.0:0.0	.	129	P60484	PTEN_HUMAN	E	129	ENSP00000361021:G129E	.	G	+	2	0	PTEN	89682882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGA		0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692902	G	A	89692902	3	1	241	1	0	0	0	0	1	0	0	0	12738	1174	41	3	404	3	PTEN	10	89692902	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		89692902	45841845	46	17098											
UBQLN3	50613	broad.mit.edu	37	chr11	5529018	5529018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaagggaggggaaaGgaagcccagctctgcagagt	14	4	17	6	0	1	2	0	0	1	2	1	6	1	5	1	5	3	2	1	5	3	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:5529018G>A	ENST00000311659.4	-	2	1918	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	591										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGGAAAGGAAGCCCAGC	0.527																																					Ovarian(72;684 1260 12332 41642 52180)	uc021qcw.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1771-1773)Ctt>Ttt		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							64	67	66					11																	5529018		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529018G>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1771C>T	11.37:g.5529018G>A	ENSP00000347997:p.Leu591Phe					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.L591F	p.L591F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	1771	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	591					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1771C>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.605295	0.00123	.	.	ENSG00000175520	ENST00000311659	T	0.38077	1.16	4.47	2.6	0.31112	.	0.157818	0.29892	N	0.010928	T	0.19565	0.0470	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.15723	-1.0427	10	0.54805	T	0.06	-0.1615	6.9545	0.24563	0.2091:0.0:0.7909:0.0	.	591	Q9H347	UBQL3_HUMAN	F	591	ENSP00000347997:L591F	ENSP00000347997:L591F	L	-	1	0	UBQLN3	5485594	0.634000	0.27190	0.295000	0.24960	0.076000	0.17211	3.450000	0.52957	0.635000	0.30488	-0.136000	0.14681	CTT		0.527	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		A	5529018	G	A	5529018	3	1	241	1	0	0	0	0	1	0	0	0	16895	1000	35	3	200	3	UBQLN3	11	5529018	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		5529018	129477498	47	17099											
PAMR1	25891	broad.mit.edu	37	chr11	35454046	35454046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggagatgctcgtcccGggaaggacacagccgcgatg	9	5	15	12	4	1	1	1	0	0	1	3	5	2	3	2	3	2	2	2	3	1	0	rs201029324	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:35454046G>A	ENST00000378880.2	-	11	2466	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L	PAMR1_ENST00000532848.1_Missense_Mutation_p.P634L|PAMR1_ENST00000278360.3_Missense_Mutation_p.P691L|PAMR1_ENST00000378878.3_Missense_Mutation_p.P563L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	674	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCGTCCCGGGAAGGACAC	0.567													G|||	2	0.000399361	0	0	5008	,	,		22131	0.002		0	False		,,,				2504	0					uc001mwf.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(2071-2073)cCg>cTg		Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.							79	74	75					11																	35454046		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454046G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2021C>T	11.37:g.35454046G>A	ENSP00000368158:p.Pro674Leu					PAMR1_uc001mwg.3_Missense_Mutation_p.P674L|PAMR1_uc010rew.2_Missense_Mutation_p.P563L|PAMR1_uc010rex.2_Missense_Mutation_p.P634L	p.P691L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN			11	2115	-			674			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.2072C>T	CCDS31460.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.04	1.520960	0.27211	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	5.34	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.160972	0.56097	D	0.000034	D	0.95010	0.8385	M	0.61703	1.905	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.75	D;D;B	0.87578	0.998;0.979;0.073	D	0.95431	0.8516	10	0.87932	D	0	.	14.6299	0.68647	0.0704:0.0:0.9296:0.0	.	563;674;691	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	691;674;563;634;651	ENSP00000278360:P691L;ENSP00000368158:P674L;ENSP00000368156:P563L;ENSP00000433868:P634L;ENSP00000432591:P651L	ENSP00000278360:P691L	P	-	2	0	PAMR1	35410622	0.999000	0.42202	0.731000	0.30826	0.009000	0.06853	2.764000	0.47613	1.398000	0.46701	-0.221000	0.12465	CCG		0.567	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		A	35454046	G	A	35454046	3	1	241	1	0	0	0	0	1	0	0	0	11413	1116	39	2	145	2	PAMR1	11	35454046	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	29925028	35454046	99552470	48	17100											
ALX4	60529	broad.mit.edu	37	chr11	44331575	44331575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtccatggcagcggccGgcgactcgcagtaagagacg	9	4	16	12	6	0	1	0	0	0	1	2	3	1	1	2	4	1	3	2	4	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:44331575G>A	ENST00000329255.3	-	1	141	c.38C>T	c.(37-39)cCg>cTg	p.P13L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	13					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCAGCGGCCGGCGACTCGCA	0.682																																						uc001myb.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(37-39)cCg>cTg		Homo sapiens ALX homeobox 4 (ALX4), mRNA.							10	13	12					11																	44331575		2197	4288	6485	SO:0001583	missense	60529				hair follicle development			g.chr11:44331575G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.38C>T	11.37:g.44331575G>A	ENSP00000332744:p.Pro13Leu						p.P13L	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			0	142	-			13					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.38C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	g	27.6	4.848158	0.91277	.	.	ENSG00000052850	ENST00000329255	D	0.91407	-2.84	4.55	4.55	0.56014	.	0.095220	0.44688	D	0.000436	D	0.83746	0.5321	N	0.19112	0.55	0.47949	D	0.999559	B	0.30211	0.273	B	0.20184	0.028	D	0.83812	0.0242	10	0.72032	D	0.01	.	17.3276	0.87253	0.0:0.0:1.0:0.0	.	13	Q9H161	ALX4_HUMAN	L	13	ENSP00000332744:P13L	ENSP00000332744:P13L	P	-	2	0	ALX4	44288151	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.075000	0.57584	2.073000	0.62155	0.401000	0.26515	CCG		0.682	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			A	44331575	G	A	44331575	3	1	241	1	0	0	0	0	1	0	0	0	558	1116	39	2	1213	2	ALX4	11	44331575	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	8877529	44331575	90674941	49	17101											
SLC22A11	55867	broad.mit.edu	37	chr11	64335161	64335161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggccctcttcggggcCgtggacttcctgggccgggc	2	8	15	16	3	1	0	0	0	1	0	4	1	3	1	5	6	0	0	5	6	0	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:64335161C>T	ENST00000301891.4	+	7	1523	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	SLC22A11_ENST00000377581.3_Silent_p.A383A|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	383					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCTTCGGGGCCGTGGACTTCC	0.642																																						uc001oai.3																			0		p.G382R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1147-1149)gcC>gcT		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						53	61	59					11																	64335161		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335161C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1149C>T	11.37:g.64335161C>T						SLC22A11_uc009ypq.3_Intron	p.A383A	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			6	1523	+			383					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.1149C>T	CCDS8074.1																																																																																				0.642	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		T	64335161	C	T	64335161	2	4	241	1	0	0	0	0	0	0	0	1	14442	639	23	2		2	SLC22A11	11	64335161	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	20003586	64335161	70671355	50	17102											
PIH1D2	120379	broad.mit.edu	37	chr11	111943820	111943820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaacttctcatagccctcagGgtcactctgagctagatcat	11	11	7	12	0	5	2	4	1	2	1	6	2	5	2	1	1	3	1	1	1	3	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:111943820G>A	ENST00000280350.4	-	2	301	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PIH1D2_ENST00000521853.2_5'Flank|C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000420986.2_5'Flank|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.P27S|C11orf57_ENST00000532163.1_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.P27S|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.P27S|PIH1D2_ENST00000528775.1_Missense_Mutation_p.P27S	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	27										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TAGCCCTCAGGGTCACTCTGA	0.463																																						uc001pmp.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(79-81)Cct>Tct		Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.							107	99	101					11																	111943820		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111943820G>A	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.79C>T	11.37:g.111943820G>A	ENSP00000280350:p.Pro27Ser					PIH1D2_uc009yyl.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank	p.P27S	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	1	302	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	27					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.79C>T	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419320	0.83559	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641	T;T;T;T;T	0.67865	-0.29;-0.29;0.25;0.25;-0.16	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.74546	2.27	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83501	0.0075	10	0.72032	D	0.01	-11.8625	17.5246	0.87796	0.0:0.0:1.0:0.0	.	27;27;27	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	S	27	ENSP00000434275:P27S;ENSP00000388209:P27S;ENSP00000431841:P27S;ENSP00000280350:P27S;ENSP00000431147:P27S	ENSP00000280350:P27S	P	-	1	0	PIH1D2	111449030	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.896000	0.69822	2.748000	0.94277	0.655000	0.94253	CCT		0.463	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		A	111943820	G	A	111943820	3	1	241	1	0	0	0	0	1	0	0	0	11907	1232	43	3	946	3	PIH1D2	11	111943820	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	47608659	111943820	23062696	51	17103											
ST14	6768	broad.mit.edu	37	chr11	130064098	130064098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccactcctcccagaaCgtcctgctcatcacactgat	9	10	4	18	1	2	2	2	1	0	1	6	2	6	2	5	0	2	1	5	0	1	1	rs374923955		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:130064098C>A	ENST00000278742.5	+	8	1348	c.930C>A	c.(928-930)aaC>aaA	p.N310K		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	310	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCTCCCAGAACGTCCTGCTCA	0.587																																						uc001qfw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(928-930)aaC>aaA		Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	Urokinase(DB00013)						146	125	132					11																	130064098		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130064098C>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.930C>A	11.37:g.130064098C>A	ENSP00000278742:p.Asn310Lys					ST14_uc010sca.1_Missense_Mutation_p.N120K	p.N310K	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1123	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	310			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.930C>A	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803150	0.70682	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.45276	0.9	5.04	-1.35	0.09114	CUB (5);	0.386006	0.18719	N	0.133096	T	0.64638	0.2616	M	0.91818	3.245	0.58432	D	0.999998	D;D	0.71674	0.997;0.998	D;D	0.68039	0.933;0.955	T	0.66893	-0.5808	10	0.72032	D	0.01	.	9.9178	0.41446	0.0:0.4958:0.0:0.5042	.	120;310	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	K	310;212	ENSP00000278742:N310K	ENSP00000278742:N310K	N	+	3	2	ST14	129569308	0.033000	0.19621	0.849000	0.33467	0.969000	0.65631	-0.795000	0.04580	-0.489000	0.06716	0.555000	0.69702	AAC		0.587	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			A	130064098	C	A	130064098	3	1	241	1	0	0	0	0	1	0	0	0	15210	535	19	5	960	5	ST14	11	130064098	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	18120278	130064098	4942418	52	17104											
C3AR1	719	broad.mit.edu	37	chr12	8212173	8212173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcattcatttctccaggCggctgaacaatgttttcaag	10	14	7	10	1	4	1	3	1	1	0	5	1	4	1	1	2	1	2	1	2	4	5	rs138822577		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:8212173C>T	ENST00000307637.4	-	2	812	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	203				P -> R (in Ref. 1; AAC50374). {ECO:0000305}.	blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTTCTCCAGGCGGCTGAACAA	0.408													C|||	2	0.000399361	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.002					uc001qtv.1																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(607-609)ccG>ccA		Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.							80	81	81					12																	8212173		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212173C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.609G>A	12.37:g.8212173C>T						C3AR1_uc021quj.1_Silent_p.P203P	p.P203P	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	1	701	-			203	P -> R (in Ref. 1; AAC50374).				O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.609G>A	CCDS8588.1																																																																																				0.408	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			T	8212173	C	T	8212173	2	4	241	1	0	0	0	0	0	0	0	1	2205	755	27	1		1	C3AR1	12	8212173	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		8212173	125639722	53	17105											
KRT8	3856	broad.mit.edu	37	chr12	53292563	53292563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactcacgcagctgccgcgCcatgtcctgcttggcccgct	4	9	11	17	4	1	0	1	0	0	0	2	0	2	0	4	1	4	5	4	1	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:53292563C>T	ENST00000552551.1	-	7	1534	c.1102G>A	c.(1102-1104)Gcg>Acg	p.A368T	KRT8_ENST00000546897.1_Missense_Mutation_p.A368T|KRT8_ENST00000552150.1_Missense_Mutation_p.A396T|KRT8_ENST00000293308.6_Missense_Mutation_p.A368T			P05787	K2C8_HUMAN	keratin 8	368	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	AGCTGCCGCGCCATGTCCTGC	0.637																																						uc009zmk.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(1186-1188)Gcg>Acg		Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						74	74	74					12																	53292563		2203	4298	6501	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292563C>T	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1102G>A	12.37:g.53292563C>T	ENSP00000447566:p.Ala368Thr					KRT8_uc001sbd.2_Missense_Mutation_p.A368T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	p.A396T	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1206	-			368			Coil 2.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1186G>A	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668220	0.47677	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.06	3.17	0.36434	Filament (1);	0.116062	0.56097	N	0.000023	D	0.89128	0.6627	M	0.81614	2.55	0.58432	D	0.999999	B;B	0.29378	0.243;0.057	B;B	0.34931	0.192;0.175	D	0.87890	0.2683	10	0.62326	D	0.03	.	10.9336	0.47233	0.0:0.9039:0.0:0.0961	.	396;368	F8VXB4;P05787	.;K2C8_HUMAN	T	368;368;368;396	ENSP00000447566:A368T;ENSP00000293308:A368T;ENSP00000447402:A368T;ENSP00000449404:A396T	ENSP00000293308:A368T	A	-	1	0	KRT8	51578830	1.000000	0.71417	0.986000	0.45419	0.399000	0.30720	2.622000	0.46427	1.007000	0.39238	0.561000	0.74099	GCG		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		T	53292563	C	T	53292563	3	4	241	1	0	0	0	0	1	0	0	0	8493	739	26	3	361	3	KRT8	12	53292563	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	45080390	53292563	80559332	54	17106											
RPS26	6231	broad.mit.edu	37	chr12	56436346	56436346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaaacatagtggaggcCgcagcagtcagggacatttc	12	8	12	9	2	1	0	1	0	0	0	3	3	1	2	1	3	2	2	1	3	2	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:56436346C>T	ENST00000356464.5	+	2	455	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPS26_ENST00000552361.1_Silent_p.A47A|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TAGTGGAGGCCGCAGCAGTCA	0.557																																						uc001sjf.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(139-141)gcC>gcT		Homo sapiens ribosomal protein S26 (RPS26), mRNA.							32	36	34					12																	56436346		2135	4183	6318	SO:0001819	synonymous_variant	6231				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	g.chr12:56436346C>T	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"S ribosomal proteins"	10414	protein-coding gene	gene with protein product	"40S ribosomal protein S26"	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.141C>T	12.37:g.56436346C>T							p.A47A	NM_001029	NP_001020	P62854	RS26_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		1	406	+			47					P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Silent	SNP	ENST00000356464.5	37	c.141C>T	CCDS31832.1																																																																																				0.557	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029		T	56436346	C	T	56436346	2	4	241	1	0	0	0	0	0	0	0	1	13637	639	23	2		2	RPS26	12	56436346	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	3143783	56436346	77415549	55	17107											
TSPAN8	7103	broad.mit.edu	37	chr12	71523126	71523126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctcaataactgccagTccaaatgatattccaataac	15	11	4	11	0	1	1	1	1	0	0	3	1	3	1	4	0	4	1	4	0	7	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:71523126T>C	ENST00000393330.2	-	11	1197	c.645A>G	c.(643-645)ggA>ggG	p.G215G	TSPAN8_ENST00000247829.3_Silent_p.G215G|TSPAN8_ENST00000546561.1_Silent_p.G215G|TSPAN8_ENST00000552128.1_Silent_p.G132G			P19075	TSN8_HUMAN	tetraspanin 8	215					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TAACTGCCAGTCCAAATGATA	0.274																																						uc009zrt.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(643-645)ggA>ggG		Homo sapiens tetraspanin 8 (TSPAN8), mRNA.							54	56	55					12																	71523126		2199	4298	6497	SO:0001819	synonymous_variant	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71523126T>C	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.645A>G	12.37:g.71523126T>C						TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	p.G215G	NM_004616	NP_004607	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		6	807	-			215					B2R7T7|Q9BS78	Silent	SNP	ENST00000393330.2	37	c.645A>G	CCDS8999.1																																																																																				0.274	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		C	71523126	T	C	71523126	2	2	241	1	0	0	0	0	0	0	0	1	16650	1654	58	4		4	TSPAN8	12	71523126	Silent	SNP	T	TCGA-32-5222-01A-01D-1486-08	15086780	71523126	62328769	56	17108											
CCDC63	160762	broad.mit.edu	37	chr12	111336859	111336859	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaagataaactgtgaCgccaccaagatcctggtgca	14	8	9	10	1	1	4	1	1	0	3	2	4	2	4	3	1	2	1	3	1	5	2	rs115748204	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000545036.1_Silent_p.D384D|CCDC63_ENST00000552694.1_Silent_p.D345D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													C|||	12	0.00239617	8e-04	0	5008	,	,		19408	0		0	False		,,,				2504	0.0112					uc001trv.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(1270-1272)gaC>gaT		Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	100	89	93		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111336859C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1272C>T	12.37:g.111336859C>T						CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	p.D424D	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			9	1467	+			424					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1272C>T	CCDS9151.1																																																																																				0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		T	111336859	C	T	111336859	2	4	241	1	0	0	0	0	0	0	0	1	2834	535	19	1		1	CCDC63	12	111336859	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	39813733	111336859	22515036	57	17109											
USP12	219333	broad.mit.edu	37	chr13	27664021	27664021	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaagctctaaaattaccGtttgtgtgcttcctgtttgc	9	16	7	9	1	1	0	0	0	1	0	2	0	2	0	2	0	4	4	2	0	5	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:27664021G>A	ENST00000282344.6	-	6	989	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	245	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353																																					Ovarian(37;808 911 7590 44442 44991)	uc001uqy.3																			1	Substitution - Missense(1)	p.R245W(1)	breast(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e6+1		Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.							61	60	60					13																	27664021		2203	4300	6503	SO:0001630	splice_region_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27664021G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.734+1C>T	13.37:g.27664021G>A							p.R245_splice	NM_182488	NP_872294	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	6	991	-		Lung SC(185;0.0161)	245					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.734_splice	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830023	0.71258	.	.	ENSG00000152484	ENST00000282344	T	0.33654	1.4	5.22	4.25	0.50352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.74954	-0.3488	10	0.87932	D	0	-5.0269	10.9344	0.47237	0.0:0.0:0.5944:0.4056	.	245	O75317	UBP12_HUMAN	W	245	ENSP00000282344:R245W	ENSP00000282344:R245W	R	-	1	2	USP12	26562021	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.287000	0.59001	2.615000	0.88500	0.591000	0.81541	CGG		0.353	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488	Missense_Mutation	A	27664021	G	A	27664021	5	1	241	1	0	0	0	0	0	0	1	0	17040	1159	40	1	395	1	USP12	13	27664021	Splice_Site	SNP	G	TCGA-32-5222-01A-01D-1486-08		27664021	87505857	58	17110											
SOHLH2	54937	broad.mit.edu	37	chr13	36748890	36748890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggagagattttctccCggatatatttcacataatca	11	13	8	9	2	3	1	2	0	1	1	4	4	3	3	1	3	0	1	1	3	3	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:36748890C>T	ENST00000379881.3	-	7	846	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.R330Q|SOHLH2_ENST00000554962.1_Missense_Mutation_p.R330Q	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	253					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GATTTTCTCCCGGATATATTT	0.403																																						uc010tei.2																			0											c.(988-990)cGg>cAg		Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.							67	71	69					13																	36748890		2203	4300	6503	SO:0001583	missense	54937				regulation of transcription, DNA-dependent	nucleus		g.chr13:36748890C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.758G>A	13.37:g.36748890C>T	ENSP00000369210:p.Arg253Gln					CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.R253Q	p.R330Q	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN			11	1304	-			330					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.989G>A	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314234	0.40996	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.97114	-4.25;-4.25;-4.25	5.11	1.33	0.21861	Helix-loop-helix DNA-binding (4);	0.485591	0.19449	N	0.113990	D	0.87845	0.6280	N	0.03983	-0.305	0.27094	N	0.962787	P;P	0.43519	0.809;0.809	B;B	0.38020	0.263;0.263	D	0.84535	0.0635	10	0.54805	T	0.06	-10.5596	3.921	0.09244	0.1769:0.5676:0.0:0.2555	.	330;253	B4DX90;Q9NX45	.;SOLH2_HUMAN	Q	253;330;330	ENSP00000369210:R253Q;ENSP00000451542:R330Q;ENSP00000421868:R330Q	ENSP00000421868:R330Q	R	-	2	0	CCDC169-SOHLH2;SOHLH2	35646890	0.994000	0.37717	0.986000	0.45419	0.040000	0.13550	0.256000	0.18351	0.541000	0.28827	0.650000	0.86243	CGG		0.403	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		T	36748890	C	T	36748890	3	4	241	1	0	0	0	0	1	0	0	0	14924	652	23	2	539	2	SOHLH2	13	36748890	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	9084869	36748890	78420988	59	17111											
RCBTB2	1102	broad.mit.edu	37	chr13	49070369	49070369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagagcagagcgatggcAttctcctcgcagatgccttg	8	8	13	12	3	1	3	0	0	1	3	3	5	1	3	3	1	3	3	3	1	0	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:49070369A>T	ENST00000344532.3	-	14	1896	c.1473T>A	c.(1471-1473)aaT>aaA	p.N491K	RCBTB2_ENST00000544492.1_Missense_Mutation_p.N217K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.N496K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	491	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GAGCGATGGCATTCTCCTCGC	0.502																																						uc010tgg.2																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1486-1488)aaT>aaA		Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.							103	96	98					13																	49070369		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49070369A>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1473T>A	13.37:g.49070369A>T	ENSP00000345144:p.Asn491Lys					RCBTB2_uc001vci.3_Missense_Mutation_p.N467K|RCBTB2_uc010tgh.2_Missense_Mutation_p.N217K|RCBTB2_uc001vch.3_Missense_Mutation_p.N491K|RCBTB2_uc001vcj.3_Missense_Mutation_p.N443K	p.N496K	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	12	1779	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	491			BTB 2.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1488T>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	a	13.41	2.229739	0.39399	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.80033	-0.45;-0.46;-1.33	5.04	-3.57	0.04612	.	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.967;1.0;0.997;0.999	P;D;D;D	0.79108	0.839;0.992;0.986;0.971	D	0.86484	0.1793	10	0.87932	D	0	.	12.9276	0.58268	0.5995:0.0:0.4005:0.0	.	217;496;443;491	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	K	491;443;496;496;217	ENSP00000345144:N491K;ENSP00000389910:N496K;ENSP00000443862:N217K	ENSP00000345144:N491K	N	-	3	2	RCBTB2	47968370	0.132000	0.22450	0.988000	0.46212	0.452000	0.32318	-0.336000	0.07863	-0.527000	0.06374	-2.160000	0.00327	AAT		0.502	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		T	49070369	A	T	49070369	3	4	241	1	0	0	0	0	1	0	0	0	13172	214	8	5	190	5	RCBTB2	13	49070369	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	12321479	49070369	66099509	60	17112											
PCDH17	27253	broad.mit.edu	37	chr13	58207833	58207833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgggactctggcaagaacGgacagctgcagtgtcgggtc	9	6	15	11	3	1	1	0	0	1	1	3	3	1	3	1	4	3	3	1	4	2	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58207833G>A	ENST00000377918.3	+	1	1179	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	385	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Gly-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGCAAGAACGGACAGCTGCA	0.721																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1153-1155)Gga>Aga		Homo sapiens protocadherin 17 (PCDH17), mRNA.							14	15	15					13																	58207833		2143	4245	6388	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207833G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1153G>A	13.37:g.58207833G>A	ENSP00000367151:p.Gly385Arg					PCDH17_uc010aec.1_Missense_Mutation_p.G385R	p.G385R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	0	2045	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	385			Cadherin 4.|Gly-rich.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1153G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189312	0.78789	.	.	ENSG00000118946	ENST00000377918	T	0.24538	1.85	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64080	-0.6491	9	.	.	.	.	19.3194	0.94231	0.0:0.0:1.0:0.0	.	385;385	O14917-2;O14917	.;PCD17_HUMAN	R	385	ENSP00000367151:G385R	.	G	+	1	0	PCDH17	57105834	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.863000	0.99569	2.588000	0.87417	0.650000	0.86243	GGA		0.721	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58207833	G	A	58207833	3	1	241	1	0	0	0	0	1	0	0	0	11512	1117	39	2	1155	2	PCDH17	13	58207833	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	9137464	58207833	56962045	61	17113											
PCDH17	27253	broad.mit.edu	37	chr13	58208729	58208729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctcatcatccgctcGgtgagcggatcccttcccga	7	8	10	16	4	2	1	2	1	0	0	6	3	5	2	4	2	2	2	4	2	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58208729G>A	ENST00000377918.3	+	1	2075	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	683	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCATCCGCTCGGTGAGCGGAT	0.632																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2047-2049)tcG>tcA		Homo sapiens protocadherin 17 (PCDH17), mRNA.							76	77	76					13																	58208729		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208729G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2049G>A	13.37:g.58208729G>A						PCDH17_uc010aec.1_Silent_p.S683S	p.S683S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	0	2941	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	683			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2049G>A	CCDS31986.1																																																																																				0.632	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58208729	G	A	58208729	2	1	241	1	0	0	0	0	0	0	0	1	11512	1103	39	2		2	PCDH17	13	58208729	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	896	58208729	56961149	62	17114											
AHNAK2	113146	broad.mit.edu	37	chr14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggaggggagactcaCgtcggcctccactttgggtg	6	9	15	11	2	1	1	1	0	0	1	3	3	2	2	2	5	1	1	2	5	0	1	rs201140610	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105418199C>T	ENST00000333244.5	-	7	3708	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617													.|||	4	0.000798722	8e-04	0.0014	5008	,	,		17285	0.001		0	False		,,,				2504	0.001					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3589-3591)Gtg>Atg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							133	122	125					14																	105418199		1954	4112	6066	SO:0001583	missense	113146					nucleus		g.chr14:105418199C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3589G>A	14.37:g.105418199C>T	ENSP00000353114:p.Val1197Met					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	p.V1197M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	3709	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1197					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3589G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	13.92	2.380363	0.42207	.	.	ENSG00000185567	ENST00000333244	T	0.01209	5.17	4.26	-0.976	0.10286	.	.	.	.	.	T	0.01661	0.0053	M	0.67397	2.05	0.09310	N	1	P	0.51653	0.947	P	0.44811	0.461	T	0.39583	-0.9607	9	0.48119	T	0.1	.	1.4605	0.02394	0.1364:0.4128:0.1328:0.3181	.	1197	Q8IVF2	AHNK2_HUMAN	M	1197	ENSP00000353114:V1197M	ENSP00000353114:V1197M	V	-	1	0	AHNAK2	104489244	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.067000	0.03451	-0.647000	0.05444	-0.320000	0.08662	GTG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105418199	C	T	105418199	3	4	241	1	0	0	0	0	1	0	0	0	415	536	19	1	13802	1	AHNAK2	14	105418199	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		105418199	1931341	63	17115											
MAP1A	4130	broad.mit.edu	37	chr15	43818898	43818898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaagaagtacccctgCgggaacacgcaacccggagc	13	3	12	13	3	0	2	0	1	0	1	0	4	0	4	3	2	6	3	3	2	5	1	rs201586108		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:43818898C>T	ENST00000300231.5	+	4	5677	c.5227C>T	c.(5227-5229)Cgg>Tgg	p.R1743W	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1743W|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1981W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1743					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTACCCCTGCGGGAACACGC	0.597													C|||	1	0.000199681	0	0	5008	,	,		16108	0.001		0	False		,,,				2504	0					uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(5227-5229)Cgg>Tgg		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						53	56	55					15																	43818898		1927	4136	6063	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818898C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5227C>T	15.37:g.43818898C>T	ENSP00000300231:p.Arg1743Trp						p.R1743W	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	5694	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1743					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5227C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	c	0.232	-1.020008	0.02078	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01430	4.9;4.91;4.91	4.28	1.19	0.21007	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	P	0.49358	0.923	B	0.40101	0.319	T	0.52381	-0.8583	9	0.62326	D	0.03	0.6865	3.834	0.08886	0.3222:0.4554:0.0:0.2224	.	1743	P78559	MAP1A_HUMAN	W	1981;1743;1743	ENSP00000371462:R1981W;ENSP00000382380:R1743W;ENSP00000300231:R1743W	ENSP00000300231:R1743W	R	+	1	2	MAP1A	41606190	0.000000	0.05858	0.026000	0.17262	0.007000	0.05969	-0.732000	0.04904	0.051000	0.15978	-0.535000	0.04281	CGG		0.597	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43818898	C	T	43818898	3	4	241	1	0	0	0	0	1	0	0	0	9227	759	27	1	5229	1	MAP1A	15	43818898	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		43818898	58712494	64	17116											
BNC1	646	broad.mit.edu	37	chr15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagtaggatttttaggCgaacggggatggcctgggtc	7	10	17	7	2	0	0	0	0	0	0	2	3	1	2	2	7	1	1	2	7	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:83935703C>T	ENST00000345382.2	-	3	405	c.320G>A	c.(319-321)cGc>cAc	p.R107H	BNC1_ENST00000569704.1_Missense_Mutation_p.R100H|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	107					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GATTTTTAGGCGAACGGGGAT	0.507																																						uc002bjt.1																			0		p.R107C(2)|p.V106I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(319-321)cGc>cAc		Homo sapiens basonuclin 1 (BNC1), mRNA.							107	100	102					15																	83935703		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935703C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.320G>A	15.37:g.83935703C>T	ENSP00000307041:p.Arg107His					BNC1_uc010uos.1_Missense_Mutation_p.R95H	p.R107H	NM_001717	NP_001708	Q01954	BNC1_HUMAN			2	408	-			107					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.320G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412924	0.96072	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	D	0.86694	-2.16	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93593	0.6923	10	0.87932	D	0	-34.9268	19.614	0.95622	0.0:1.0:0.0:0.0	.	100;107	F5GY04;Q01954	.;BNC1_HUMAN	H	107;100	ENSP00000307041:R107H	ENSP00000307041:R107H	R	-	2	0	BNC1	81726707	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.573000	0.82421	2.873000	0.98535	0.561000	0.74099	CGC		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83935703	C	T	83935703	3	4	241	1	0	0	0	0	1	0	0	0	1474	768	27	1	2676	1	BNC1	15	83935703	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	40116805	83935703	18595689	65	17117											
PCSK6	5046	broad.mit.edu	37	chr15	101929721	101929721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgggggcagagactgAggtcccagtgtggccatcgg	8	6	16	11	1	0	2	0	1	0	1	2	3	1	2	3	5	0	1	3	5	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:101929721A>G	ENST00000348070.1	-	10	1254	c.1255T>C	c.(1255-1257)Tca>Cca	p.S419P	PCSK6_ENST00000331826.7_Missense_Mutation_p.S254P|PCSK6_ENST00000344273.2_Missense_Mutation_p.S419P|PCSK6_ENST00000398181.2_Missense_Mutation_p.S419P|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.S419P	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	420	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGAGACTGAGGTCCCAGTG	0.517																																						uc002bxa.2																			0		p.T418T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1255-1257)Tca>Cca		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							74	82	79					15																	101929721		2108	4236	6344	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101929721A>G		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1255T>C	15.37:g.101929721A>G	ENSP00000305056:p.Ser419Pro					PCSK6_uc010bpd.3_Missense_Mutation_p.S290P|PCSK6_uc002bwy.3_Missense_Mutation_p.S419P|PCSK6_uc010bpe.3_Missense_Mutation_p.S416P|PCSK6_uc002bxb.2_Missense_Mutation_p.S419P|PCSK6_uc002bxc.1_Missense_Mutation_p.S419P|PCSK6_uc002bxd.1_Missense_Mutation_p.S419P|PCSK6_uc002bxe.3_Missense_Mutation_p.S419P|PCSK6_uc002bxg.1_Missense_Mutation_p.S419P	p.S419P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1569	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		420			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1255T>C		.	.	.	.	.	.	.	.	.	.	A	27.2	4.812100	0.90707	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D;D	0.98012	-4.66;-4.66;-1.73;-4.66;-4.66;-4.66	5.74	5.74	0.90152	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99783	4.775	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.994;0.994;0.997;0.998;0.994;0.997	D	0.97912	1.0309	10	0.87932	D	0	-12.0768	15.218	0.73285	1.0:0.0:0.0:0.0	.	420;325;419;420;419;419;420;420;419	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	P	419;419;324;419;419;254	ENSP00000305056:S419P;ENSP00000351193:S419P;ENSP00000381246:S324P;ENSP00000344410:S419P;ENSP00000381243:S419P;ENSP00000332052:S254P	ENSP00000332052:S254P	S	-	1	0	PCSK6	99747244	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	9.181000	0.94874	2.183000	0.69458	0.533000	0.62120	TCA		0.517	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		G	101929721	A	G	101929721	3	3	241	1	0	0	0	0	1	0	0	0	11604	304	11	4	2186	4	PCSK6	15	101929721	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	17994018	101929721	601671	66	17118											
TBL3	10607	broad.mit.edu	37	chr16	2025082	2025082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggccttcagcgccgaCggccacaccatgctcaggtc	7	7	10	17	3	3	0	3	0	0	0	4	1	3	0	4	3	2	1	4	3	0	1	rs199830238		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:2025082C>T	ENST00000568546.1	+	7	746	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	206					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													C|||	1	0.000199681	0	0	5008	,	,		18137	0.001		0	False		,,,				2504	0				Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(616-618)gaC>gaT		Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.							35	36	36					16																	2025082		2197	4300	6497	SO:0001819	synonymous_variant	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025082C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.618C>T	16.37:g.2025082C>T						TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	p.D206D	NM_006453	NP_006444	Q12788	TBL3_HUMAN			6	720	+			206					Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	c.618C>T	CCDS10453.1																																																																																				0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		T	2025082	C	T	2025082	2	4	241	1	0	0	0	0	0	0	0	1	15640	535	19	1		1	TBL3	16	2025082	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		2025082	88329671	67	17119											
CCDC113	29070	broad.mit.edu	37	chr16	58287944	58287944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccggacaggtatggacCgtggggtaggcctgactgcc	8	7	15	11	2	0	1	0	1	0	0	1	3	1	3	4	6	1	2	4	6	3	2	rs375219394		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:58287944C>T	ENST00000219299.4	+	3	350	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	91						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGGTATGGACCGTGGGGTAGG	0.507																																						uc002ene.3																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(271-273)Cgt>Tgt		Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.		C	,CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	132	107	115		,271	5.4	0	16		115	0,8600		0,0,4300	no	intron,missense	CCDC113	NM_001142302.1,NM_014157.3	,180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,91/378	58287944	1,12995	2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58287944C>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.271C>T	16.37:g.58287944C>T	ENSP00000219299:p.Arg91Cys					CCDC113_uc010vid.2_Intron	p.R91C	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			2	350	+			91					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.271C>T	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208932	0.79240	2.27E-4	0.0	ENSG00000103021	ENST00000219299	T	0.35605	1.3	5.4	5.4	0.78164	.	0.448237	0.26166	N	0.025950	T	0.50548	0.1622	M	0.65498	2.005	0.31311	N	0.687122	D	0.76494	0.999	P	0.54210	0.745	T	0.60984	-0.7154	10	0.72032	D	0.01	0.036	14.6729	0.68958	0.0:1.0:0.0:0.0	.	91	Q9H0I3	CC113_HUMAN	C	91	ENSP00000219299:R91C	ENSP00000219299:R91C	R	+	1	0	CCDC113	56845445	0.031000	0.19500	0.025000	0.17156	0.002000	0.02628	2.313000	0.43735	2.526000	0.85167	0.655000	0.94253	CGT		0.507	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		T	58287944	C	T	58287944	3	4	241	1	0	0	0	0	1	0	0	0	2750	652	23	2	281	2	CCDC113	16	58287944	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	56262862	58287944	32066809	68	17120											
FLCN	201163	broad.mit.edu	37	chr17	17119805	17119805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgcggacgcagcccaCgggaagcatggtctgaggag	10	5	17	9	3	1	2	0	2	1	0	1	6	1	5	1	4	3	2	1	4	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:17119805C>T	ENST00000285071.4	-	11	1643	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	397					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGCAGCCCACGGGAAGCATG	0.637									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1189-1191)Gtg>Atg		Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.							83	61	68					17																	17119805		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17119805C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1189G>A	17.37:g.17119805C>T	ENSP00000285071:p.Val397Met					PLD6_uc010cpn.3_Non-coding_Transcript	p.V397M	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			10	1693	-			397					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1189G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	c	16.51	3.142127	0.57044	.	.	ENSG00000154803	ENST00000285071	D	0.92805	-3.11	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47716	1.5	0.80722	D	1	B	0.28880	0.226	B	0.17098	0.017	D	0.85751	0.1343	10	0.42905	T	0.14	-37.3998	15.0876	0.72167	0.0:0.9305:0.0:0.0695	.	397	Q8NFG4	FLCN_HUMAN	M	397	ENSP00000285071:V397M	ENSP00000285071:V397M	V	-	1	0	FLCN	17060530	1.000000	0.71417	0.963000	0.40424	0.792000	0.44763	4.398000	0.59697	2.729000	0.93468	0.651000	0.88453	GTG		0.637	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		T	17119805	C	T	17119805	3	4	241	1	0	0	0	0	1	0	0	0	5921	536	19	1	566	1	FLCN	17	17119805	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		17119805	64075405	69	17121											
KRT37	8688	broad.mit.edu	37	chr17	39578590	39578590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcctcgtactgagcccGcatctcccccaacaccctgt	7	8	7	19	2	1	1	0	1	1	0	3	1	1	1	5	1	3	2	5	1	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:39578590G>A	ENST00000225550.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	277	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582																																						uc002hwp.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(829-831)Cgg>Tgg		Homo sapiens keratin 37 (KRT37), mRNA.							177	163	167					17																	39578590		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578590G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.829C>T	17.37:g.39578590G>A	ENSP00000225550:p.Arg277Trp						p.R277W	NM_003770	NP_003761	O76014	KRT37_HUMAN			3	876	-		Breast(137;0.000496)	277			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.829C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.561214	0.27915	.	.	ENSG00000108417	ENST00000225550	D	0.93488	-3.23	4.83	-2.78	0.05859	Filament (1);	0.000000	0.45361	D	0.000369	D	0.92159	0.7514	M	0.93808	3.46	0.31200	N	0.699926	P	0.39920	0.695	B	0.31812	0.136	D	0.88984	0.3410	10	0.87932	D	0	.	10.2021	0.43089	0.0749:0.0:0.4229:0.5022	.	277	O76014	KRT37_HUMAN	W	277	ENSP00000225550:R277W	ENSP00000225550:R277W	R	-	1	2	KRT37	36832116	0.002000	0.14202	0.125000	0.21846	0.431000	0.31685	-1.641000	0.02007	-0.200000	0.10300	-0.274000	0.10170	CGG		0.582	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		A	39578590	G	A	39578590	3	1	241	1	0	0	0	0	1	0	0	0	8474	1086	38	1	536	1	KRT37	17	39578590	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	22458785	39578590	41616620	70	17122											
G6PC	2538	broad.mit.edu	37	chr17	41063121	41063121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgagcagccagaatgggTccacattgacaccacaccct	11	6	10	14	1	0	2	0	1	0	1	1	3	1	2	4	1	3	1	4	1	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:41063121T>C	ENST00000253801.2	+	5	831	c.752T>C	c.(751-753)gTc>gCc	p.V251A	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	251					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGAATGGGTCCACATTGAC	0.582																																						uc002icb.1																			0		p.W250*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(751-753)gTc>gCc		Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.							101	87	92					17																	41063121		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063121T>C	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.752T>C	17.37:g.41063121T>C	ENSP00000253801:p.Val251Ala					G6PC_uc010whf.1_3'UTR	p.V251A	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	831	+		Breast(137;0.000143)	251					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.752T>C	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601817	0.66445	.	.	ENSG00000131482	ENST00000253801	T	0.80824	-1.42	4.86	4.86	0.63082	.	0.131761	0.50627	D	0.000101	T	0.79488	0.4454	M	0.67397	2.05	0.80722	D	1	B	0.27791	0.189	B	0.27608	0.081	T	0.80165	-0.1496	10	0.87932	D	0	.	14.621	0.68584	0.0:0.0:0.0:1.0	.	251	P35575	G6PC_HUMAN	A	251	ENSP00000253801:V251A	ENSP00000253801:V251A	V	+	2	0	G6PC	38316647	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	7.819000	0.86621	2.040000	0.60383	0.455000	0.32223	GTC		0.582	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		C	41063121	T	C	41063121	3	2	241	1	0	0	0	0	1	0	0	0	6143	1667	58	4	770	4	G6PC	17	41063121	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1484531	41063121	40132089	71	17123											
C17orf57	124989	broad.mit.edu	37	chr17	45471419	45471419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgaattttaaagaattCattgatactatgatgagcaa	18	13	7	3	0	1	5	1	4	0	1	1	5	1	5	0	0	2	1	0	0	8	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:45471419C>T	ENST00000331493.2	+	16	2166	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	EFCAB13_ENST00000517484.1_Silent_p.F489F	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F585L(1)									TTAAAGAATTCATTGATACTA	0.269																																						uc002iln.3																			1	Substitution - Missense(1)	p.F585L(2)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						c.(1753-1755)ttC>ttT		Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.							87	97	94					17																	45471419		2203	4300	6503	SO:0001819	synonymous_variant	124989						calcium ion binding	g.chr17:45471419C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1755C>T	17.37:g.45471419C>T						C17orf57_uc002ilm.3_Silent_p.F489F	p.F585F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			15	2186	+			585					G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	c.1755C>T	CCDS11512.1																																																																																				0.269	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		T	45471419	C	T	45471419	2	4	241	1	0	0	0	0	0	0	0	1	1865	825	29	3		3	C17orf57	17	45471419	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	4408298	45471419	35723791	72	17124											
GPR142	350383	broad.mit.edu	37	chr17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgctcacggttgacCgctacactgccctgtgccac	6	9	8	18	2	1	1	1	1	0	0	2	1	2	1	5	1	4	3	5	1	1	2	rs149042051	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:72368116C>T	ENST00000335666.4	+	4	814	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	256						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687																																						uc021ucp.1																			1	Substitution - Missense(1)	p.R256C(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(757-759)Cgc>Tgc		Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.		C	CYS/ARG	0,4406		0,0,2203	75	57	63		766	5	1	17	dbSNP_134	63	16,8584	11.9+/-42.8	0,16,4284	yes	missense	GPR142	NM_181790.1	180	0,16,6487	TT,TC,CC		0.186,0.0,0.123	probably-damaging	256/463	72368116	16,12990	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368116C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.766C>T	17.37:g.72368116C>T	ENSP00000335158:p.Arg256Cys					GPR142_uc010wqy.2_Missense_Mutation_p.R256C	p.R253C	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			3	766	+			256					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.757C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599923	0.66332	0.0	0.00186	ENSG00000257008	ENST00000335666	D	0.97186	-4.28	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99364	1.0918	10	0.87932	D	0	-31.3331	18.8605	0.92270	0.0:1.0:0.0:0.0	.	256;1218	Q7Z601;Q8NGB0	GP142_HUMAN;.	C	256	ENSP00000335158:R256C	ENSP00000335158:R256C	R	+	1	0	GPR142	69879711	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	4.541000	0.60670	2.708000	0.92522	0.650000	0.86243	CGC		0.687	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		T	72368116	C	T	72368116	3	4	241	1	0	0	0	0	1	0	0	0	6650	652	23	2	780	2	GPR142	17	72368116	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	26896697	72368116	8827094	73	17125											
CDH7	1005	broad.mit.edu	37	chr18	63547824	63547824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagacaccaagacccggagGgatgtgactccagaaattca	14	5	11	11	2	1	4	1	1	0	3	2	7	2	6	3	2	0	0	3	2	2	1	rs267605240		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr18:63547824G>A	ENST00000397968.2	+	12	2478	c.2052G>A	c.(2050-2052)agG>agA	p.R684R	CDH7_ENST00000323011.3_Silent_p.R684R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	684					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGACCCGGAGGGATGTGACTC	0.473																																						uc002lkb.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(2050-2052)agG>agA		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.							78	81	80					18																	63547824		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547824G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2052G>A	18.37:g.63547824G>A						CDH7_uc002ljz.3_Silent_p.R684R	p.R684R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN			11	2478	+		Esophageal squamous(42;0.129)	684					Q9H157	Silent	SNP	ENST00000397968.2	37	c.2052G>A	CCDS11993.1																																																																																				0.473	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		A	63547824	G	A	63547824	2	1	241	1	0	0	0	0	0	0	0	1	3115	1223	43	3		3	CDH7	18	63547824	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		63547824	14529424	74	17126											
MED16	10025	broad.mit.edu	37	chr19	868170	868170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagtggtgtgtggactgCgggcccagctggacaaaggc	8	6	19	8	1	0	1	0	0	0	1	0	4	0	3	1	6	2	1	1	6	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:868170C>T	ENST00000589119.1	-	15	2564	c.2565G>A	c.(2563-2565)ccG>ccA	p.P855P	MED16_ENST00000325464.1_Silent_p.P855P|MED16_ENST00000395808.3_3'UTR|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000312090.6_3'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	855					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGGACTGCGGGCCCAGCT	0.677																																						uc002lqd.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(2563-2565)ccG>ccA		Homo sapiens mediator complex subunit 16 (MED16), mRNA.							38	37	37					19																	868170		2196	4296	6492	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:868170C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2565G>A	19.37:g.868170C>T						MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	p.P855P	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2716	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	855					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.2565G>A	CCDS12047.1																																																																																				0.677	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		T	868170	C	T	868170	2	4	241	1	0	0	0	0	0	0	0	1	9434	755	27	1		1	MED16	19	868170	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		868170	58260813	75	17127											
CCDC124	115098	broad.mit.edu	37	chr19	18054397	18054397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggaagcccagctgcCgcggctcaaacaagagaacc	12	5	11	13	2	1	2	1	1	0	1	1	4	1	3	3	2	5	2	3	2	4	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18054397C>T	ENST00000597436.1	+	5	652	c.545C>T	c.(544-546)cCg>cTg	p.P182L	CCDC124_ENST00000445755.2_Missense_Mutation_p.P182L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	182					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GCCCAGCTGCCGCGGCTCAAA	0.637																																						uc010xpz.2																			0				central_nervous_system(1)|kidney(2)	3						c.(544-546)cCg>cTg		Homo sapiens coiled-coil domain containing 124 (CCDC124), transcript variant 2, mRNA.							26	34	32					19																	18054397		2202	4300	6502	SO:0001583	missense	115098						DNA binding	g.chr19:18054397C>T	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.545C>T	19.37:g.18054397C>T	ENSP00000471455:p.Pro182Leu					CCDC124_uc002nhs.3_Missense_Mutation_p.P182L	p.P182L	NM_001136203	NP_612451	Q96CT7	CC124_HUMAN			4	590	+			182						Missense_Mutation	SNP	ENST00000597436.1	37	c.545C>T	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.355594	0.82243	.	.	ENSG00000007080	ENST00000445755	T	0.75260	-0.92	4.76	2.61	0.31194	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.87517	0.6197	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87025	0.2131	10	0.87932	D	0	-10.9757	9.1065	0.36701	0.0:0.8165:0.0:0.1835	.	182	Q96CT7	CC124_HUMAN	L	182	ENSP00000408730:P182L	ENSP00000408730:P182L	P	+	2	0	CCDC124	17915397	1.000000	0.71417	0.512000	0.27736	0.953000	0.61014	7.122000	0.77169	0.433000	0.26313	0.561000	0.74099	CCG		0.637	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		T	18054397	C	T	18054397	3	4	241	1	0	0	0	0	1	0	0	0	2760	652	23	2	559	2	CCDC124	19	18054397	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	17186227	18054397	41074586	76	17128											
UPF1	5976	broad.mit.edu	37	chr19	18961017	18961017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcctcggcttcatcccgGccaaagctgactcagtggtg	6	10	10	15	2	2	1	2	1	0	0	6	1	5	1	4	3	1	2	4	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18961017G>A	ENST00000599848.1	+	4	804	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	UPF1_ENST00000262803.5_Missense_Mutation_p.A199T|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	199	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCATCCCGGCCAAAGCTGA	0.612																																						uc002nkg.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(595-597)Gcc>Acc		Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.							89	84	86					19																	18961017		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18961017G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.595G>A	19.37:g.18961017G>A	ENSP00000470142:p.Ala199Thr					UPF1_uc002nkf.3_Missense_Mutation_p.A199T	p.A199T	NM_002911	NP_002902	Q92900	RENT1_HUMAN			3	870	+			199			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.264485	0.80358	.	.	ENSG00000005007	ENST00000262803	D	0.91521	-2.86	4.89	3.84	0.44239	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	M	0.90922	3.16	0.80722	D	1	D;P	0.56746	0.977;0.886	P;P	0.53102	0.718;0.596	D	0.94763	0.7938	10	0.87932	D	0	-34.2855	12.6109	0.56549	0.0822:0.0:0.9178:0.0	.	199;199	Q92900;Q92900-2	RENT1_HUMAN;.	T	199	ENSP00000262803:A199T	ENSP00000262803:A199T	A	+	1	0	UPF1	18822017	1.000000	0.71417	0.870000	0.34147	0.522000	0.34438	7.492000	0.81482	1.035000	0.39972	0.467000	0.42956	GCC		0.612	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		A	18961017	G	A	18961017	3	1	241	1	0	0	0	0	1	0	0	0	17000	1203	42	3	609	3	UPF1	19	18961017	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	906620	18961017	40167966	77	17129											
PRODH2	58510	broad.mit.edu	37	chr19	36303168	36303168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttcccctcataccaCgcctcactgcccagccagca	8	6	7	20	2	2	0	2	0	0	0	3	1	3	0	7	1	4	2	7	1	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:36303168C>T	ENST00000301175.3	-	4	623	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	202					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATACCACGCCTCACTGC	0.672																																						uc002obx.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(604-606)gcG>gcA		Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.							72	70	71					19																	36303168		2203	4299	6502	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303168C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.606G>A	19.37:g.36303168C>T							p.A202A	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	624	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		202						Silent	SNP	ENST00000301175.3	37	c.606G>A	CCDS12478.1																																																																																				0.672	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		T	36303168	C	T	36303168	2	4	241	1	0	0	0	0	0	0	0	1	12549	523	19	1		1	PRODH2	19	36303168	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	17342151	36303168	22825815	78	17130											
RYR1	6261	broad.mit.edu	37	chr19	38991601	38991601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacgtggggttcctgcccGacatgagggcagccgcctcg	5	7	16	13	4	0	1	0	1	0	0	2	3	1	2	4	4	2	2	4	4	0	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:38991601G>A	ENST00000359596.3	+	47	7585	c.7585G>A	c.(7585-7587)Gac>Aac	p.D2529N	RYR1_ENST00000355481.4_Missense_Mutation_p.D2529N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2529N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2529	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTTCCTGCCCGACATGAGGGC	0.642																																						uc002oit.3																			0		p.D2529E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7585-7587)Gac>Aac		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						42	33	36					19																	38991601		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991601G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7585G>A	19.37:g.38991601G>A	ENSP00000352608:p.Asp2529Asn					RYR1_uc002oiu.3_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_5'UTR	p.D2529N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		46	7715	+	all_cancers(60;7.91e-06)		2529			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7585G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966369	0.74131	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92249	-3.0;-3.0;-3.0	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000001	D	0.96219	0.8767	M	0.84948	2.725	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.96961	0.9701	10	0.87932	D	0	.	15.9284	0.79639	0.0:0.0:1.0:0.0	.	2529;2529	P21817-2;P21817	.;RYR1_HUMAN	N	2529	ENSP00000352608:D2529N;ENSP00000347667:D2529N;ENSP00000354254:D2529N	ENSP00000347667:D2529N	D	+	1	0	RYR1	43683441	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	9.618000	0.98365	2.259000	0.74868	0.491000	0.48974	GAC		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38991601	G	A	38991601	3	1	241	1	0	0	0	0	1	0	0	0	13768	1058	37	2	7771	2	RYR1	19	38991601	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	2688433	38991601	20137382	79	17131											
FCGBP	8857	broad.mit.edu	37	chr19	40384053	40384053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcgcactggcagcccTccacacaggggccctcacat	7	5	10	19	3	1	0	1	0	0	0	3	0	2	0	4	3	1	2	4	3	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40384053T>C	ENST00000221347.6	-	21	9564	c.9557A>G	c.(9556-9558)gAg>gGg	p.E3186G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3186	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGCCCTCCACACAGGG	0.652																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(9556-9558)gAg>gGg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							8	10	9					19																	40384053		1455	3099	4554	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40384053T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9557A>G	19.37:g.40384053T>C	ENSP00000221347:p.Glu3186Gly						p.E3186G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		20	9565	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3186			TIL 7.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.9557A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190075	0.58017	.	.	ENSG00000090920	ENST00000221347	T	0.81247	-1.47	3.48	3.48	0.39840	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.90120	0.6913	M	0.91140	3.18	0.33474	D	0.586543	D	0.89917	1.0	D	0.91635	0.999	D	0.91419	0.5157	9	0.29301	T	0.29	.	11.2207	0.48853	0.0:0.0:0.0:1.0	.	3186	Q9Y6R7	FCGBP_HUMAN	G	3186	ENSP00000221347:E3186G	ENSP00000221347:E3186G	E	-	2	0	FCGBP	45075893	1.000000	0.71417	0.958000	0.39756	0.131000	0.20780	6.077000	0.71275	1.339000	0.45563	0.334000	0.21626	GAG		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40384053	T	C	40384053	3	2	241	1	0	0	0	0	1	0	0	0	5778	1551	54	4	6724	4	FCGBP	19	40384053	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1392452	40384053	18744930	80	17132											
CNTD2	79935	broad.mit.edu	37	chr19	40730663	40730663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtctaccaccagggcgCgcatctccggggtcacagcg	7	5	13	16	4	3	0	1	0	2	0	4	0	3	0	4	3	2	1	4	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40730663C>T	ENST00000430325.2	-	2	371	c.323G>A	c.(322-324)cGc>cAc	p.R108H	CNTD2_ENST00000433940.1_Intron|CNTD2_ENST00000513948.1_Missense_Mutation_p.R2H	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	108	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CACCAGGGCGCGCATCTCCGG	0.682																																						uc010xvi.2																			0				lung(1)|prostate(1)	2						c.(322-324)cGc>cAc		Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.							21	34	30					19																	40730663		692	1591	2283	SO:0001583	missense	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730663C>T	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.323G>A	19.37:g.40730663C>T	ENSP00000396755:p.Arg108His					CNTD2_uc002ond.3_Intron	p.R108H	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN			1	372	-			108					B4DX65	Missense_Mutation	SNP	ENST00000430325.2	37	c.323G>A	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620726	0.66787	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.20332	2.08;2.08	5.28	4.24	0.50183	.	.	.	.	.	T	0.59473	0.2196	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72959	-0.4133	9	0.87932	D	0	.	12.6332	0.56669	0.1657:0.8343:0.0:0.0	.	108	B4DX65	.	H	108;2	ENSP00000396755:R108H;ENSP00000425529:R2H	ENSP00000396755:R108H	R	-	2	0	CNTD2	45422503	0.988000	0.35896	0.809000	0.32408	0.337000	0.28794	2.995000	0.49441	1.209000	0.43321	0.561000	0.74099	CGC		0.682	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		T	40730663	C	T	40730663	3	4	241	1	0	0	0	0	1	0	0	0	3636	768	27	1	616	1	CNTD2	19	40730663	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	346610	40730663	18398320	81	17133											
LYPD4	147719	broad.mit.edu	37	chr19	42342041	42342041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggtggaactgtaacacGtagaagcagccaaggggcaa	15	6	13	7	1	0	1	0	0	0	1	0	2	0	2	1	4	4	4	1	4	7	3	rs369563100		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:42342041G>A	ENST00000330743.3	-	4	1717	c.506C>T	c.(505-507)aCg>aTg	p.T169M	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Missense_Mutation_p.T134M|LYPD4_ENST00000343055.4_Missense_Mutation_p.T134M	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	169	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACTGTAACACGTAGAAGCAGC	0.488																																						uc002orp.1																			0		p.T169T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(505-507)aCg>aTg		Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.			MET/THR	3,4403	6.2+/-15.9	0,3,2200	60	59	59		506	-3.9	0	19		59	0,8600		0,0,4300	no	missense	LYPD4	NM_173506.4	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	169/247	42342041	3,13003	2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342041G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.506C>T	19.37:g.42342041G>A	ENSP00000328737:p.Thr169Met					LYPD4_uc002orq.1_Missense_Mutation_p.T134M	p.T169M	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			3	1490	-			169			UPAR/Ly6.		Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.506C>T	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.916096	0.33815	6.81E-4	0.0	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.70045	-0.45;-0.45	4.13	-3.94	0.04130	CD59 antigen (1);	2.204360	0.01755	N	0.030143	T	0.44582	0.1300	N	0.22421	0.69	0.09310	N	1	B;B	0.29936	0.221;0.262	B;B	0.17098	0.01;0.017	T	0.17868	-1.0355	10	0.46703	T	0.11	4.5027	0.9882	0.01451	0.2288:0.2248:0.3636:0.1829	.	134;169	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	M	169;134	ENSP00000328737:T169M;ENSP00000339568:T134M	ENSP00000328737:T169M	T	-	2	0	LYPD4	47033881	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.994000	0.03716	-0.706000	0.05028	-0.389000	0.06534	ACG		0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		A	42342041	G	A	42342041	3	1	241	1	0	0	0	0	1	0	0	0	9112	1145	40	1	242	1	LYPD4	19	42342041	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	1611378	42342041	16786942	82	17134											
PHLDB3	653583	broad.mit.edu	37	chr19	44008217	44008217	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggacctccacgtcgcaTtccgggaccagcggcggcgg	5	5	16	15	6	0	0	0	0	0	0	3	2	2	2	4	6	1	2	4	6	0	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:44008217T>G	ENST00000292140.5	-	2	414	c.54A>C	c.(52-54)gaA>gaC	p.E18D	PHLDB3_ENST00000599242.1_Missense_Mutation_p.E18D	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	18							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCACGTCGCATTCCGGGACCA	0.736																																						uc002own.4																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(52-54)gaA>gaC		Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.							18	19	18					19																	44008217		2201	4295	6496	SO:0001583	missense	653583							g.chr19:44008217T>G		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.54A>C	19.37:g.44008217T>G	ENSP00000292140:p.Glu18Asp					PHLDB3_uc002owo.3_Missense_Mutation_p.E18D	p.E18D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			1	313	-		Prostate(69;0.0153)	18					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.54A>C	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978361	0.74360	.	.	ENSG00000176531	ENST00000292140	T	0.52295	0.67	4.61	-0.38	0.12490	.	1.692630	0.03446	N	0.209984	T	0.34978	0.0916	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.001	T	0.32534	-0.9903	10	0.87932	D	0	.	3.6537	0.08213	0.0:0.3934:0.2021:0.4045	.	18;18	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	D	18	ENSP00000292140:E18D	ENSP00000292140:E18D	E	-	3	2	PHLDB3	48700057	0.000000	0.05858	0.005000	0.12908	0.043000	0.13939	-1.002000	0.03686	0.056000	0.16144	0.248000	0.18094	GAA		0.736	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			G	44008217	T	G	44008217	3	3	241	1	0	0	0	0	1	0	0	0	11853	1490	52	5	1928	5	PHLDB3	19	44008217	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1666176	44008217	15120766	83	17135											
KLK15	55554	broad.mit.edu	37	chr19	51330300	51330300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcagcaacatgatgtcGttgcggtggctgcgcgcttc	6	9	15	11	5	0	1	0	1	0	0	2	1	0	1	0	3	4	5	0	3	1	2	rs369380000		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:51330300G>A	ENST00000598239.1	-	3	345	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000301421.2_Silent_p.N105N|KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000326856.4_Silent_p.N104N	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(313-315)aaC>aaT		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.							65	58	61					19																	51330300		2202	4299	6501	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330300G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.315C>T	19.37:g.51330300G>A						KLK15_uc002ptm.3_Silent_p.N105N|KLK15_uc002ptn.3_Silent_p.N105N|KLK15_uc002pto.3_Silent_p.N104N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.N104N|KLK15_uc010eod.3_Non-coding_Transcript	p.N105N	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	2	346	-		all_neural(266;0.057)	105			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.315C>T	CCDS12805.1																																																																																				0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		A	51330300	G	A	51330300	2	1	241	1	0	0	0	0	0	0	0	1	8403	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	7322083	51330300	7798683	84	17136											
SIGLEC6	946	broad.mit.edu	37	chr19	52034114	52034114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagaagatggggggcGtcccctgctcacagacccag	9	5	14	13	1	1	3	1	0	0	3	3	4	3	3	4	4	1	1	4	4	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:52034114G>A	ENST00000425629.3	-	3	681	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.T176M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.T176M|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.T176M|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.T140M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.T165M|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	176	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GATGGGGGGCGTCCCCTGCTC	0.667																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(526-528)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.							73	77	76					19																	52034114		2203	4300	6503	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034114G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.527C>T	19.37:g.52034114G>A	ENSP00000401502:p.Thr176Met					SIGLEC6_uc002pwz.3_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.2_Missense_Mutation_p.T140M|SIGLEC6_uc010ydc.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.3_Missense_Mutation_p.T176M|SIGLEC6_uc010eoz.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epa.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epb.2_Missense_Mutation_p.T129M	p.T176M	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	735	-		all_neural(266;0.0199)	176			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.527C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436995	0.12104	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.26518	1.73;2.04;2.04;2.04;2.04	3.34	0.816	0.18768	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.177463	0.26955	N	0.021642	T	0.37019	0.0988	M	0.68317	2.08	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.993;0.988;0.989;0.993;0.999;0.992;0.998	P;P;P;P;D;P;D	0.68483	0.891;0.746;0.701;0.891;0.948;0.843;0.958	T	0.09335	-1.0679	10	0.30854	T	0.27	.	3.7299	0.08489	0.1615:0.2528:0.5857:0.0	.	176;140;165;165;176;176;176	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	M	165;176;176;176;140;176;165	ENSP00000344064:T165M;ENSP00000401502:T176M;ENSP00000353071:T176M;ENSP00000410679:T140M;ENSP00000345907:T176M	ENSP00000345907:T176M	T	-	2	0	SIGLEC6	56725926	0.001000	0.12720	0.010000	0.14722	0.029000	0.11900	-0.102000	0.10956	0.678000	0.31325	0.313000	0.20887	ACG		0.667	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		A	52034114	G	A	52034114	3	1	241	1	0	0	0	0	1	0	0	0	14312	1145	40	1	891	1	SIGLEC6	19	52034114	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	703814	52034114	7094869	85	17137											
LILRB1	10859	broad.mit.edu	37	chr19	55143056	55143056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagacccaggagtaccGtctatatagagaaaagaaaa	18	5	10	8	1	1	3	0	0	1	3	1	6	1	4	3	2	1	1	3	2	8	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:55143056G>A	ENST00000396331.1	+	5	533	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB1_ENST00000427581.2_Missense_Mutation_p.R95H|LILRB1_ENST00000418536.2_Missense_Mutation_p.R59H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R59H|LILRB1_ENST00000396327.3_Missense_Mutation_p.R59H|LILRB1_ENST00000448689.1_Missense_Mutation_p.R59H|LILRB1_ENST00000396332.4_Missense_Mutation_p.R59H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R59H|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396321.2_Missense_Mutation_p.R59H|LILRB1_ENST00000396315.1_Missense_Mutation_p.R59H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R59H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	59	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGAGTACCGTCTATATAGA	0.572										HNSCC(37;0.09)																												uc002qgj.3																			0		p.R59C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(175-177)cGt>cAt		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							129	128	128					19																	55143056		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143056G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.176G>A	19.37:g.55143056G>A	ENSP00000379622:p.Arg59His	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R59H|LILRB1_uc002qgk.3_Missense_Mutation_p.R59H|LILRB1_uc002qgm.3_Missense_Mutation_p.R59H|LILRB1_uc010erq.3_Missense_Mutation_p.R59H|LILRB1_uc010err.3_Non-coding_Transcript	p.R59H	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	4	516	+			59			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.176G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.605232	0.00123	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	2.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.954600	0.00904	N	0.002387	T	0.05227	0.0139	N	0.05259	-0.085	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.001;0.002;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.002	T	0.35798	-0.9774	10	0.02654	T	1	.	3.6558	0.08220	0.4498:0.0:0.2358:0.3144	.	59;59;59;59;59	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	H	59;59;59;59;59;59;59;59;95;59;59	ENSP00000379614:R59H;ENSP00000391514:R59H;ENSP00000409968:R59H;ENSP00000379622:R59H;ENSP00000379618:R59H;ENSP00000315997:R59H;ENSP00000405243:R59H;ENSP00000379623:R59H;ENSP00000395004:R95H;ENSP00000379610:R59H;ENSP00000379608:R59H	ENSP00000315997:R59H	R	+	2	0	LILRB1	59834868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.336000	0.00070	-4.910000	0.00027	-2.804000	0.00113	CGT		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55143056	G	A	55143056	3	1	241	1	0	0	0	0	1	0	0	0	8790	1145	40	1	186	1	LILRB1	19	55143056	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	3108942	55143056	3985927	86	17138											
C20orf94	128710	broad.mit.edu	37	chr20	10603963	10603963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttagccacaaacactgAaagattatctacaattcaga	16	9	6	10	1	2	3	1	1	1	2	2	3	2	3	1	1	3	1	1	1	6	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:10603963A>G	ENST00000334534.5	+	8	1343	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	388																	ACAAACACTGAAAGATTATCT	0.428																																						uc010zre.2																			0		p.T387S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						c.(1162-1164)gAa>gGa		Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.							47	50	49					20																	10603963		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10603963A>G	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1163A>G	20.37:g.10603963A>G	ENSP00000335557:p.Glu388Gly						p.E388G	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			7	1343	+			388					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.1163A>G	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	A	9.969	1.224926	0.22457	.	.	ENSG00000149346	ENST00000334534	T	0.58060	0.36	5.46	1.88	0.25563	.	0.522762	0.20644	N	0.088356	T	0.35128	0.0921	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.20672	-1.0268	10	0.45353	T	0.12	-1.9925	3.658	0.08228	0.659:0.1384:0.0706:0.132	.	388	Q5VYV7	CT094_HUMAN	G	388	ENSP00000335557:E388G	ENSP00000335557:E388G	E	+	2	0	C20orf94	10551963	0.897000	0.30589	0.018000	0.16275	0.721000	0.41392	2.052000	0.41316	0.096000	0.17463	-0.299000	0.09455	GAA		0.428	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		G	10603963	A	G	10603963	3	3	241	1	0	0	0	0	1	0	0	0	2121	246	9	4	1189	4	C20orf94	20	10603963	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08		10603963	52421557	87	17139											
PYGB	5834	broad.mit.edu	37	chr20	25255279	25255279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccctgggagaaagcgCggcctgagtatatgcttccc	9	7	12	13	2	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	4	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:25255279C>T	ENST00000216962.4	+	5	690	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	194					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGAGAAAGCGCGGCCTGAGTA	0.622																																						uc002wup.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(580-582)Cgg>Tgg		Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	Pyridoxal Phosphate(DB00114)						86	87	87					20																	25255279		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255279C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.580C>T	20.37:g.25255279C>T	ENSP00000216962:p.Arg194Trp						p.R194W	NM_002862	NP_002853	P11216	PYGB_HUMAN			4	689	+			194					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.580C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476758	0.84640	.	.	ENSG00000100994	ENST00000216962	D	0.94576	-3.46	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	-29.5133	16.4345	0.83871	0.0:1.0:0.0:0.0	.	194	P11216	PYGB_HUMAN	W	194	ENSP00000216962:R194W	ENSP00000216962:R194W	R	+	1	2	PYGB	25203279	0.998000	0.40836	0.867000	0.34043	0.905000	0.53344	3.710000	0.54860	2.263000	0.75096	0.563000	0.77884	CGG		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		T	25255279	C	T	25255279	3	4	241	1	0	0	0	0	1	0	0	0	12860	759	27	1	598	1	PYGB	20	25255279	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	14651316	25255279	37770241	88	17140											
TGM2	7052	broad.mit.edu	37	chr20	36760804	36760804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccagcaggtagctgttgaTaactggctccacgaggaggg	10	7	15	9	1	0	1	0	1	0	0	1	3	1	2	2	4	4	5	2	4	2	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:36760804T>A	ENST00000361475.2	-	11	1887	c.1714A>T	c.(1714-1716)Atc>Ttc	p.I572F	TGM2_ENST00000536724.1_Missense_Mutation_p.I512F|TGM2_ENST00000536701.1_Missense_Mutation_p.I491F	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	572					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TAGCTGTTGATAACTGGCTCC	0.567																																						uc002xhr.3																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1714-1716)Atc>Ttc		Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	L-Glutamine(DB00130)						155	154	155					20																	36760804		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36760804T>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1714A>T	20.37:g.36760804T>A	ENSP00000355330:p.Ile572Phe					TGM2_uc002xhq.3_Missense_Mutation_p.I173F|TGM2_uc010zvx.2_Missense_Mutation_p.I491F|TGM2_uc010zvy.2_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	p.I572F	NM_004613	NP_004604	P21980	TGM2_HUMAN			10	1814	-		Myeloproliferative disorder(115;0.00878)	572					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1714A>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	T	7.821	0.717823	0.15372	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.29397	1.57;1.57;1.57	4.63	-2.19	0.07015	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	1.426930	0.04288	N	0.345040	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.32188	-0.9916	10	0.87932	D	0	-10.4288	3.7377	0.08517	0.4093:0.1678:0.0:0.4229	.	512;491;512;572	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	F	572;491;512	ENSP00000355330:I572F;ENSP00000444701:I491F;ENSP00000437479:I512F	ENSP00000355330:I572F	I	-	1	0	TGM2	36194218	0.000000	0.05858	0.080000	0.20451	0.043000	0.13939	-0.332000	0.07904	0.001000	0.14605	-0.509000	0.04479	ATC		0.567	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		A	36760804	T	A	36760804	3	1	241	1	0	0	0	0	1	0	0	0	15827	1406	49	5	361	5	TGM2	20	36760804	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	11505525	36760804	26264716	89	17141											
ARFGEF2	10564	broad.mit.edu	37	chr20	47585807	47585807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttggtgaaggccctccaGacccaaagtaagcagacagc	12	5	10	14	0	0	3	0	1	0	2	1	3	1	3	4	2	2	2	4	2	3	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47585807G>A	ENST00000371917.4	+	9	1183	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	395					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCCCTCCAGACCCAAAGTA	0.527																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1183-1185)Gac>Aac		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							148	112	124					20																	47585807		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47585807G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1183G>A	20.37:g.47585807G>A	ENSP00000360985:p.Asp395Asn						p.D395N	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		8	1335	+			395					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1183G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477402	0.84640	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.50001	0.76	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.88310	2.945	0.80722	D	1	P	0.45011	0.848	P	0.50825	0.651	T	0.73388	-0.3998	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	395	Q9Y6D5	BIG2_HUMAN	N	395	ENSP00000360985:D395N	ENSP00000360985:D395N	D	+	1	0	ARFGEF2	47019214	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAC		0.527	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47585807	G	A	47585807	3	1	241	1	0	0	0	0	1	0	0	0	853	942	33	3	1217	3	ARFGEF2	20	47585807	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	10825003	47585807	15439713	90	17142											
ARFGEF2	10564	broad.mit.edu	37	chr20	47591341	47591341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcctggagtgcctcgtGtccattctcaagtgcatggt	8	11	12	10	1	1	0	1	0	1	0	4	1	2	1	3	3	2	1	3	3	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47591341G>A	ENST00000371917.4	+	13	1704	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	568					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGCCTCGTGTCCATTCTCA	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1702-1704)gtG>gtA		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							107	93	98					20																	47591341		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47591341G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1704G>A	20.37:g.47591341G>A							p.V568V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		12	1856	+			568					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.1704G>A	CCDS13411.1																																																																																				0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47591341	G	A	47591341	2	1	241	1	0	0	0	0	0	0	0	1	853	1364	48	3		3	ARFGEF2	20	47591341	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	5534	47591341	15434179	91	17143											
ZFP64	55734	broad.mit.edu	37	chr20	50769893	50769893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcttctcccccgagtgcaCccgcatgtgccttttcaagt	6	11	9	15	2	2	0	1	0	1	0	3	1	2	0	4	1	2	3	4	1	1	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:50769893C>T	ENST00000216923.4	-	6	1187	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.V278M|ZFP64_ENST00000346617.4_Missense_Mutation_p.V226M|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCGAGTGCACCCGCATGTGC	0.552																																						uc002xwl.3																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(838-840)Gtg>Atg		Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.							74	66	69					20																	50769893		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769893C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.838G>A	20.37:g.50769893C>T	ENSP00000216923:p.Val280Met					ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.V278M|ZFP64_uc002xwn.3_Missense_Mutation_p.V226M	p.V280M	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			5	1187	-			280					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.838G>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922180	0.73213	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.20069	2.1;2.1;2.1	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000055	T	0.47820	0.1466	M	0.64630	1.985	0.49798	D	0.999823	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.984;0.985	T	0.35375	-0.9791	10	0.72032	D	0.01	-19.1669	20.1865	0.98220	0.0:1.0:0.0:0.0	.	226;278;280	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	M	280;226;278;122;433	ENSP00000216923:V280M;ENSP00000344615:V226M;ENSP00000360570:V278M	ENSP00000216923:V280M	V	-	1	0	ZFP64	50203300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.841000	0.55850	2.775000	0.95449	0.655000	0.94253	GTG		0.552	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		T	50769893	C	T	50769893	3	4	241	1	0	0	0	0	1	0	0	0	17649	507	18	3	2402	3	ZFP64	20	50769893	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	3178552	50769893	12255627	92	17144											
SLC17A9	63910	broad.mit.edu	37	chr20	61596500	61596500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggttacagagccatcacGgtgcggaagctcatgcaggt	10	8	14	9	2	2	1	2	0	0	1	2	2	2	2	1	4	5	4	1	4	3	2	rs370727216		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:61596500G>A	ENST00000370351.4	+	9	1058	c.927G>A	c.(925-927)acG>acA	p.T309T	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.T303T	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	309					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587																																						uc002yea.4																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(925-927)acG>acA		Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.		G		1,3925		0,1,1962	87	92	90		927	-10.3	0.2	20		90	0,8284		0,0,4142	no	coding-synonymous	SLC17A9	NM_022082.3		0,1,6104	AA,AG,GG		0.0,0.0255,0.0082		309/437	61596500	1,12209	1963	4142	6105	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596500G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.927G>A	20.37:g.61596500G>A						SLC17A9_uc002ydz.4_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	p.T309T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			8	1111	+			309					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.927G>A	CCDS42901.1																																																																																				0.587	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		A	61596500	G	A	61596500	2	1	241	1	0	0	0	0	0	0	0	1	14424	1103	39	2		2	SLC17A9	20	61596500	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	10826607	61596500	1429020	93	17145											
ZNF280A	129025	broad.mit.edu	37	chr22	22868791	22868791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtagggcatttcgccaggCttatgatggtccttcatgtg	7	13	12	9	2	1	1	1	1	0	0	3	1	2	1	2	3	0	3	2	3	2	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:22868791C>A	ENST00000302097.3	-	2	1416	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCGCCAGGCTTATGATGGT	0.458																																						uc002zwe.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1162-1164)aaG>aaT		Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.							110	91	97					22																	22868791		2203	4297	6500	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868791C>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1164G>T	22.37:g.22868791C>A	ENSP00000302855:p.Lys388Asn					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.K388N	p.K388N	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	1417	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	388						Missense_Mutation	SNP	ENST00000302097.3	37	c.1164G>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345794	0.61073	.	.	ENSG00000169548	ENST00000302097	T	0.27890	1.64	3.9	-0.985	0.10256	.	.	.	.	.	T	0.50103	0.1596	M	0.73598	2.24	0.27689	N	0.946178	D	0.89917	1.0	D	0.87578	0.998	T	0.42137	-0.9469	9	0.87932	D	0	-7.3539	8.3671	0.32393	0.0:0.6284:0.0:0.3716	.	388	P59817	Z280A_HUMAN	N	388	ENSP00000302855:K388N	ENSP00000302855:K388N	K	-	3	2	ZNF280A	21198791	0.800000	0.28916	0.956000	0.39512	0.983000	0.72400	-0.176000	0.09811	-0.127000	0.11661	0.655000	0.94253	AAG		0.458	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		A	22868791	C	A	22868791	3	1	241	1	0	0	0	0	1	0	0	0	17811	796	28	5	468	5	ZNF280A	22	22868791	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		22868791	28435775	94	17146											
SAPS2	9701	broad.mit.edu	37	chr22	50860803	50860803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctcctgctcaacccGcccaaggtaaatggccgtgg	9	6	10	16	2	1	0	1	0	0	0	2	0	2	0	5	3	3	3	5	3	4	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:50860803G>A	ENST00000216061.5	+	10	1336	c.966G>A	c.(964-966)ccG>ccA	p.P322P	PPP6R2_ENST00000395741.3_Silent_p.P323P|PPP6R2_ENST00000395744.3_Silent_p.P322P|PPP6R2_ENST00000359139.3_Silent_p.P322P			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	322						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCTCAACCCGCCCAAGGTAA	0.582																																						uc003blb.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(964-966)ccG>ccA		Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.							80	68	72					22																	50860803		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50860803G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.966G>A	22.37:g.50860803G>A						PPP6R2_uc003blc.3_Silent_p.P322P|PPP6R2_uc003bky.2_Silent_p.P322P|PPP6R2_uc003bla.2_Silent_p.P323P|PPP6R2_uc003bkz.2_Silent_p.P322P|AB372727_uc011arw.2_5'Flank	p.P322P	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN			9	1388	+			322					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.966G>A																																																																																					0.582	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		A	50860803	G	A	50860803	2	1	241	1	0	0	0	0	0	0	0	1	13837	1074	38	1		1	SAPS2	22	50860803	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	27992012	50860803	443763	95	17147											
FAM48B1	100130302	broad.mit.edu	37	chrX	24381779	24381779	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcagaccctgtgatttggCcgtgccttcagaagtggatg	8	10	14	9	1	1	3	1	1	0	2	1	4	1	4	3	3	1	1	3	3	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:24381779C>T								AC004552.1 (14756 upstream) : PDK3 (101558 downstream)																							TGTGATTTGGCCGTGCCTTCA	0.512																																						uc011mjx.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						c.(901-903)gCc>gTc		Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.							142	118	126					X																	24381779		1568	3580	5148	SO:0001628	intergenic_variant	100130302							g.chrX:24381779C>T																													X.37:g.24381779C>T							p.A301V	NM_001136234	NP_001129706					0	902	+									Missense_Mutation	SNP		37	c.902C>T																																																																																				0	0.512									T	24381779	C	T	24381779	1	4	241	0	1	0	0	0	0	0	0	0	5573	739	26	3		3	FAM48B1	23	24381779	IGR	SNP	C	TCGA-32-5222-01A-01D-1486-08		24381779	130888781	96	17148											
DMD	1756	broad.mit.edu	37	chrX	32380981	32380981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggctctactaatttcCtgcagtggtcaccgcggttt	5	15	11	10	2	2	0	1	0	1	0	3	0	3	0	2	4	2	3	2	4	2	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:32380981C>T	ENST00000357033.4	-	37	5455	c.5249G>A	c.(5248-5250)aGg>aAg	p.R1750K	DMD_ENST00000378677.2_Missense_Mutation_p.R1746K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1750	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACTAATTTCCTGCAGTGGTC	0.468																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5248-5250)aGg>aAg		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							226	168	188					X																	32380981		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380981C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5249G>A	X.37:g.32380981C>T	ENSP00000354923:p.Arg1750Lys					DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron	p.R1750K	NM_004006	NP_004001	P11532	DMD_HUMAN			36	5493	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1750			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5249G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984767	0.53934	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.24	4.38	0.52667	.	0.000000	0.38959	U	0.001509	T	0.51329	0.1668	L	0.54323	1.7	0.80722	D	1	B;P;B;B;B	0.44195	0.058;0.828;0.071;0.021;0.021	B;P;B;B;B	0.47251	0.076;0.542;0.125;0.078;0.078	T	0.50294	-0.8845	10	0.44086	T	0.13	.	14.516	0.67818	0.1476:0.8524:0.0:0.0	.	1742;1750;1746;409;406	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1742;409;406;1746;1750;1750;1627	ENSP00000367948:R1746K;ENSP00000354923:R1750K	ENSP00000354923:R1750K	R	-	2	0	DMD	32290902	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.961000	0.56759	0.973000	0.38340	0.538000	0.68166	AGG		0.468	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32380981	C	T	32380981	3	4	241	1	0	0	0	0	1	0	0	0	4580	681	24	3	6128	3	DMD	23	32380981	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	7999202	32380981	122889579	97	17149											
PCDH19	57526	broad.mit.edu	37	chrX	99661954	99661954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggatgatgacccgcaccgTagcgttgctttgcagtgagg	8	9	15	9	3	0	3	0	3	0	0	0	5	0	4	2	2	3	5	2	2	1	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:99661954T>C	ENST00000373034.4	-	1	3317	c.1642A>G	c.(1642-1644)Acg>Gcg	p.T548A	PCDH19_ENST00000255531.7_Missense_Mutation_p.T548A|PCDH19_ENST00000420881.2_Missense_Mutation_p.T548A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACCCGCACCGTAGCGTTGCTT	0.587																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1642-1644)Acg>Gcg		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.							127	124	125					X																	99661954		2162	4245	6407	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661954T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1642A>G	X.37:g.99661954T>C	ENSP00000362125:p.Thr548Ala					PCDH19_uc004efw.4_Missense_Mutation_p.T548A|PCDH19_uc004efx.4_Missense_Mutation_p.T548A	p.T548A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	3318	-			548			Cadherin 5.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1642A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410227	0.62399	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55234	0.53;0.53;0.53	5.81	5.81	0.92471	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	M	0.78637	2.42	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.83275	0.996;0.971;0.983	T	0.76607	-0.2897	10	0.62326	D	0.03	.	15.0829	0.72127	0.0:0.0:0.0:1.0	.	548;548;548	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	548	ENSP00000400327:T548A;ENSP00000362125:T548A;ENSP00000255531:T548A	ENSP00000255531:T548A	T	-	1	0	PCDH19	99548610	1.000000	0.71417	0.672000	0.29872	0.860000	0.49131	8.040000	0.89188	1.944000	0.56390	0.417000	0.27973	ACG		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		C	99661954	T	C	99661954	3	2	241	1	0	0	0	0	1	0	0	0	11514	1638	57	4	1828	4	PCDH19	23	99661954	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	67280973	99661954	55608606	98	17150											
STAG2	10735	broad.mit.edu	37	chrX	123202507	123202507	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atactactgttaaggaacagGttagtaattactatagatgg	15	13	9	4	0	0	1	0	0	0	1	0	2	0	2	0	3	4	3	0	3	9	8			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:123202507G>T	ENST00000371160.1	+	24	2648		c.e24+1		STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAGGAACAGGTTAGTAATTA	0.313																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e24+1		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							61	56	58					X																	123202507		2203	4283	6486	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123202507G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2358+1G>T	X.37:g.123202507G>T						STAG2_uc004etz.4_Splice_Site_p.Q786_splice|STAG2_uc004eub.3_Splice_Site_p.Q786_splice|STAG2_uc004euc.3_Splice_Site_p.Q786_splice|STAG2_uc004eud.3_Splice_Site_p.Q786_splice|STAG2_uc004eue.3_Splice_Site_p.Q786_splice	p.Q786_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			24	2762	+			786					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.2358_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451948	0.84209	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9733	0.89119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123030188	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.314000	0.96306	2.266000	0.75297	0.538000	0.68166	.		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron	T	123202507	G	T	123202507	5	4	241	1	0	0	0	0	0	0	1	0	15242	1275	44	5	2445	5	STAG2	23	123202507	Splice_Site	SNP	G	TCGA-32-5222-01A-01D-1486-08	23540553	123202507	32068053	99	17151											
GABRA3	2556	broad.mit.edu	37	chrX	151533006	151533006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaagaatcccaaggcTggtcatgtaacagtgacttg	14	8	11	8	0	1	2	1	1	0	1	2	3	2	3	1	3	1	2	1	3	5	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:151533006T>C	ENST00000370314.4	-	2	275	c.37A>G	c.(37-39)Agc>Ggc	p.S13G	GABRA3_ENST00000535043.1_Missense_Mutation_p.S13G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	13					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCCCAAGGCTGGTCATGTAA	0.443																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(37-39)Agc>Ggc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						161	137	145					X																	151533006		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151533006T>C		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.37A>G	X.37:g.151533006T>C	ENSP00000359337:p.Ser13Gly						p.S13G	NM_000808	NP_000799	P34903	GBRA3_HUMAN			1	277	-	Acute lymphoblastic leukemia(192;6.56e-05)		13					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.37A>G	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	0.402	-0.917771	0.02396	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.70986	-0.53;-0.53;-0.53	5.29	2.89	0.33648	.	2.538680	0.00963	N	0.003120	T	0.48409	0.1498	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.40979	-0.9534	10	0.17832	T	0.49	.	6.2106	0.20628	0.0:0.207:0.0:0.793	.	13	P34903	GBRA3_HUMAN	G	13	ENSP00000359337:S13G;ENSP00000359334:S13G;ENSP00000443527:S13G	ENSP00000359334:S13G	S	-	1	0	GABRA3	151283662	0.037000	0.19845	0.014000	0.15608	0.103000	0.19146	0.944000	0.29043	0.194000	0.20326	0.486000	0.48141	AGC		0.443	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		C	151533006	T	C	151533006	3	2	241	1	0	0	0	0	1	0	0	0	6162	1580	55	4	1477	4	GABRA3	23	151533006	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	28330499	151533006	3737554	100	17152											
KIAA0090	23065	broad.mit.edu	37	chr1	19565777	19565777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcttctccccagtggtgGcaaagctcactagggcagtc	7	9	11	14	1	3	0	1	0	2	0	5	0	3	0	3	3	1	3	3	3	2	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:19565777G>A	ENST00000477853.1	-	9	1016	c.974C>T	c.(973-975)gCc>gTc	p.A325V	EMC1_ENST00000375199.3_Missense_Mutation_p.A325V|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.A303V	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	325						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCCAGTGGTGGCAAAGCTCAC	0.542																																						uc001bbo.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(973-975)gCc>gTc		Homo sapiens KIAA0090 (KIAA0090), mRNA.							96	89	91					1																	19565777		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19565777G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.974C>T	1.37:g.19565777G>A	ENSP00000420608:p.Ala325Val					KIAA0090_uc001bbp.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbq.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbr.3_Missense_Mutation_p.A303V	p.A325V	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	8	1017	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	325					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.974C>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977911	0.74360	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.25414	1.8;1.8;1.81	5.81	3.8	0.43715	.	0.094457	0.64402	D	0.000001	T	0.33118	0.0852	L	0.55481	1.735	0.80722	D	1	P;P;P;P	0.43477	0.675;0.493;0.808;0.709	P;B;P;B	0.48627	0.503;0.295;0.584;0.379	T	0.05971	-1.0853	10	0.21540	T	0.41	-16.8724	15.4327	0.75116	0.0:0.2808:0.7192:0.0	.	303;325;325;325	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	V	325;325;303	ENSP00000420608:A325V;ENSP00000364345:A325V;ENSP00000364354:A303V	ENSP00000364345:A325V	A	-	2	0	KIAA0090	19438364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.536000	0.53582	1.436000	0.47453	0.655000	0.94253	GCC		0.542	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		A	19565777	G	A	19565777	3	1	242	1	0	0	0	0	1	0	0	0	8153	1203	42	3	2067	3	KIAA0090	1	19565777	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		19565777	229684844	1	17153											
PLA2G2F	64600	broad.mit.edu	37	chr1	20470022	20470022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgccatcctgtccttcGtgggctacggttgctactgt	4	12	13	12	3	0	0	0	0	0	0	3	1	2	1	3	3	4	3	3	3	2	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:20470022G>A	ENST00000375102.3	+	3	355	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	42					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTGTCCTTCGTGGGCTACGG	0.637																																						uc009vpp.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(253-255)Gtg>Atg		Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.							93	78	83					1																	20470022		2203	4300	6503	SO:0001583	missense	64600				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20470022G>A	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.253G>A	1.37:g.20470022G>A	ENSP00000364243:p.Val85Met						p.V85M	NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	351	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	42					Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	c.253G>A	CCDS204.2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608062	0.66558	.	.	ENSG00000158786	ENST00000375102	D	0.82619	-1.63	5.25	5.25	0.73442	.	0.250311	0.28125	N	0.016516	T	0.79890	0.4524	L	0.35414	1.06	0.36744	D	0.882401	D	0.61080	0.989	P	0.49085	0.6	T	0.82041	-0.0654	10	0.33940	T	0.23	-27.9794	14.3399	0.66619	0.0:0.0:1.0:0.0	.	85	Q9BZM2-2	.	M	85	ENSP00000364243:V85M	ENSP00000364243:V85M	V	+	1	0	PLA2G2F	20342609	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.705000	0.37867	2.431000	0.82371	0.563000	0.77884	GTG		0.637	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		A	20470022	G	A	20470022	3	1	242	1	0	0	0	0	1	0	0	0	11999	1145	40	1	263	1	PLA2G2F	1	20470022	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	904245	20470022	228780599	2	17154											
SPTA1	6708	broad.mit.edu	37	chr1	158626392	158626392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgcagagctttcatacTgtctccaaatgaattgagat	12	13	7	9	1	2	3	1	2	1	2	4	4	3	3	2	0	2	2	2	0	3	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:158626392T>A	ENST00000368147.4	-	20	3040	c.2860A>T	c.(2860-2862)Agt>Tgt	p.S954C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	954					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTCATACTGTCTCCAAAT	0.408																																						uc001fst.1																			0		p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2860-2862)Agt>Tgt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							171	173	172					1																	158626392		1853	4088	5941	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626392T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2860A>T	1.37:g.158626392T>A	ENSP00000357129:p.Ser954Cys						p.S954C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	3059	-	all_hematologic(112;0.0378)		954					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2860A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175678	0.78564	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.5	5.5	0.81552	.	0.000000	0.37577	N	0.002031	T	0.58836	0.2150	M	0.71036	2.16	0.45791	D	0.998677	D	0.89917	1.0	D	0.79108	0.992	T	0.58645	-0.7600	10	0.37606	T	0.19	.	14.5891	0.68351	0.0:0.0:0.0:1.0	.	954	P02549	SPTA1_HUMAN	C	954	ENSP00000357130:S954C;ENSP00000357129:S954C	ENSP00000357129:S954C	S	-	1	0	SPTA1	156893016	1.000000	0.71417	0.880000	0.34516	0.627000	0.37826	6.684000	0.74538	2.308000	0.77769	0.533000	0.62120	AGT		0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158626392	T	A	158626392	3	1	242	1	0	0	0	0	1	0	0	0	15115	1580	55	5	4531	5	SPTA1	1	158626392	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08	138156370	158626392	90624229	3	17155											
LY9	4063	broad.mit.edu	37	chr1	160793477	160793477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagggcgctggacatgAcccagcccctgagggccaag	9	4	15	13	1	1	2	1	2	0	0	1	4	1	4	4	4	1	1	4	4	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:160793477A>G	ENST00000263285.6	+	8	1751	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	LY9_ENST00000368040.1_Missense_Mutation_p.D212G|LY9_ENST00000392203.4_Missense_Mutation_p.D484G|LY9_ENST00000368037.5_Missense_Mutation_p.D560G|LY9_ENST00000341032.4_Missense_Mutation_p.D440G|LY9_ENST00000368041.2_Missense_Mutation_p.D444G			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	574					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGGACATGACCCAGCCCCT	0.537																																						uc001fwu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1720-1722)gAc>gGc		Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.							168	158	162					1																	160793477		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793477A>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1721A>G	1.37:g.160793477A>G	ENSP00000263285:p.Asp574Gly					LY9_uc001fwv.3_Missense_Mutation_p.D560G|LY9_uc001fww.3_Missense_Mutation_p.D484G|LY9_uc001fwy.1_Missense_Mutation_p.D372G|LY9_uc001fwz.3_Missense_Mutation_p.D212G	p.D574G	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	1771	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		574					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1721A>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129274	0.37533	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.39056	1.1;2.25;1.12;2.25	2.85	1.67	0.24075	.	.	.	.	.	T	0.27629	0.0679	L	0.52573	1.65	0.09310	N	1	B;D;D;D;D;P	0.64830	0.392;0.978;0.994;0.994;0.972;0.953	B;P;P;P;P;B	0.53549	0.166;0.563;0.729;0.729;0.592;0.388	T	0.04427	-1.0952	9	0.42905	T	0.14	-8.2569	6.1796	0.20463	0.741:0.259:0.0:0.0	.	212;520;444;440;560;574	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	G	574;440;212;574;444;520;342;212	ENSP00000342921:D440G;ENSP00000357019:D212G;ENSP00000263285:D574G;ENSP00000357014:D212G	ENSP00000263285:D574G	D	+	2	0	LY9	159060101	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.610000	0.24253	0.452000	0.26830	0.379000	0.24179	GAC		0.537	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		G	160793477	A	G	160793477	3	3	242	1	0	0	0	0	1	0	0	0	9101	275	10	4	1883	4	LY9	1	160793477	Missense_Mutation	SNP	A	TCGA-41-2571-01A-01D-1495-08	2167085	160793477	88457144	4	17156											
CEP350	9857	broad.mit.edu	37	chr1	179972355	179972355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacacctgatgggaaagtGtggcaggaggctgagtttca	11	8	15	7	1	1	2	1	2	0	0	1	5	1	4	1	4	1	3	1	4	2	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:179972355G>A	ENST00000367607.3	+	7	1483	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	355					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGGGAAAGTGTGGCAGGAGG	0.373																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(1063-1065)gtG>gtA		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							84	79	81					1																	179972355		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179972355G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1065G>A	1.37:g.179972355G>A						CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.3_Silent_p.V189V	p.V355V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			6	1448	+			355					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.1065G>A	CCDS1336.1																																																																																				0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		A	179972355	G	A	179972355	2	1	242	1	0	0	0	0	0	0	0	1	3254	1364	48	3		3	CEP350	1	179972355	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	19178878	179972355	69278266	5	17157											
SRBD1	55133	broad.mit.edu	37	chr2	45773870	45773870	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatatatgtaatagccttaCcagtaaacaacatccagtgg	16	10	7	8	0	0	1	0	0	0	1	1	1	1	1	3	1	4	2	3	1	8	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:45773870C>A	ENST00000263736.4	-	14	1937		c.e14+1		SRBD1_ENST00000535761.1_Splice_Site	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1						nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATAGCCTTACCAGTAAACAA	0.378																																						uc002rus.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.e14+1		Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.							123	115	117					2																	45773870		2203	4300	6503	SO:0001630	splice_region_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45773870C>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1874+1G>T	2.37:g.45773870C>A						SRBD1_uc010yoc.2_Splice_Site_p.C144_splice	p.C625_splice	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		14	1950	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	625					Q53T56|Q96TA4|Q9NW11	Splice_Site	SNP	ENST00000263736.4	37	c.1874_splice	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413811	0.83449	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRBD1	45627374	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.122000	0.77169	2.941000	0.99782	0.655000	0.94253	.		0.378	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	Intron	A	45773870	C	A	45773870	5	1	242	1	0	0	0	0	0	0	1	0	15132	521	18	5	1144	5	SRBD1	2	45773870	Splice_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08		45773870	197425503	6	17158											
CRYGD	1421	broad.mit.edu	37	chr2	208986472	208986472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctggtagcgcctataGtcccctggcatcagcaggta	8	9	11	13	1	1	0	1	0	0	0	3	0	3	0	4	3	2	4	4	3	4	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:208986472G>C	ENST00000264376.4	-	3	477	c.450C>G	c.(448-450)gaC>gaG	p.D150E		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	150	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCGCCTATAGTCCCCTGGCA	0.542																																						uc002vcn.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(448-450)gaC>gaG		Homo sapiens crystallin, gamma D (CRYGD), mRNA.							75	71	72					2																	208986472		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986472G>C		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.450C>G	2.37:g.208986472G>C	ENSP00000264376:p.Asp150Glu					LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.D150E	p.D150E	NM_006891	NP_008822	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	566	-			150			Beta/gamma crystallin 'Greek key' 4.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.450C>G	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	0.282	-0.985471	0.02180	.	.	ENSG00000118231	ENST00000264376	T	0.72615	-0.67	4.25	-8.5	0.00927	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.234086	0.41001	N	0.000962	T	0.25195	0.0612	N	0.01535	-0.81	0.27250	N	0.958901	B	0.02656	0.0	B	0.01281	0.0	T	0.49244	-0.8960	10	0.02654	T	1	.	5.048	0.14494	0.0822:0.4647:0.1162:0.3369	.	150	P07320	CRGD_HUMAN	E	150	ENSP00000264376:D150E	ENSP00000264376:D150E	D	-	3	2	CRYGD	208694717	0.000000	0.05858	0.043000	0.18650	0.474000	0.32979	-2.798000	0.00762	-1.749000	0.01330	0.555000	0.69702	GAC		0.542	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		C	208986472	G	C	208986472	3	2	242	1	0	0	0	0	1	0	0	0	3917	1020	36	5	78	5	CRYGD	2	208986472	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	163212602	208986472	34212901	7	17159											
CCR4	1233	broad.mit.edu	37	chr3	32995888	32995888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaaacctgcaggggccTttttgtgctctgccaatact	8	13	8	12	0	2	0	1	0	1	0	2	0	2	0	3	2	5	2	3	2	4	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:32995888T>A	ENST00000330953.5	+	2	1142	c.974T>A	c.(973-975)cTt>cAt	p.L325H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	325					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCAGGGGCCTTTTTGTGCTC	0.478																																						uc003cfg.1																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(973-975)cTt>cAt		Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.							56	59	58					3																	32995888		2202	4300	6502	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995888T>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.974T>A	3.37:g.32995888T>A	ENSP00000332659:p.Leu325His					CCR4_uc021wuw.1_Missense_Mutation_p.L325H	p.L325H	NM_005508	NP_005499	P51679	CCR4_HUMAN			1	1142	+			325					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.974T>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	T	3.768	-0.048217	0.07407	.	.	ENSG00000183813	ENST00000330953	T	0.38240	1.15	5.43	3.63	0.41609	.	1.187760	0.06401	N	0.718766	T	0.28300	0.0699	L	0.29908	0.895	0.21861	N	0.999509	B	0.24368	0.102	B	0.27262	0.078	T	0.32613	-0.9900	10	0.15066	T	0.55	.	8.739	0.34545	0.0:0.764:0.0:0.236	.	325	P51679	CCR4_HUMAN	H	325	ENSP00000332659:L325H	ENSP00000332659:L325H	L	+	2	0	CCR4	32970892	0.006000	0.16342	0.611000	0.29010	0.559000	0.35586	1.408000	0.34668	0.760000	0.33108	-0.468000	0.05107	CTT		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			A	32995888	T	A	32995888	3	1	242	1	0	0	0	0	1	0	0	0	2943	1609	56	5	976	5	CCR4	3	32995888	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08		32995888	165026542	8	17160											
DCP1A	55802	broad.mit.edu	37	chr3	53376299	53376299	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtaaggggaagctgacCttagatttaatagaagaaaa	17	9	11	4	0	0	4	0	1	0	3	0	5	0	5	1	3	1	2	1	3	8	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:53376299C>A	ENST00000480258.1	-	3	269		c.e3-1		DCP1A_ENST00000607628.1_Splice_Site|DCP1A_ENST00000294241.6_Splice_Site|DCP1A_ENST00000606822.1_Splice_Site			Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGAAGCTGACCTTAGATTTAA	0.294																																						uc021wzi.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e3-1		Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.							41	40	40					3																	53376299		1816	4074	5890	SO:0001630	splice_region_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53376299C>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000480258.1:c.5730-1G>T	3.37:g.53376299C>A						DCP1A_uc021wzk.1_Splice_Site_p.R59_splice	p.R59_splice	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	3	287	-			59					B4DHN9|U3KQM8	Splice_Site	SNP	ENST00000480258.1	37	c.177_splice																																																																																					0.294	DCP1A-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000350374.2	NM_018403	Intron	A	53376299	C	A	53376299	5	1	242	1	0	0	0	0	0	0	1	0	4298	695	24	5	1604	5	DCP1A	3	53376299	Splice_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08	20380411	53376299	144646131	9	17161											
CD96	10225	broad.mit.edu	37	chr3	111356983	111356983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtccccacaactgccaatgGatctacgaaaactaatcacg	15	7	6	13	2	2	0	1	0	1	0	3	2	3	1	3	1	4	0	3	1	6	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:111356983G>A	ENST00000283285.5	+	13	1624	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CD96_ENST00000352690.4_Missense_Mutation_p.G482E	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	498	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTGCCAATGGATCTACGAAA	0.383									Opitz Trigonocephaly syndrome																													uc003dxw.3																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(1492-1494)gGa>gAa		Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.							182	167	172					3																	111356983		2203	4300	6503	SO:0001583	missense	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111356983G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1493G>A	3.37:g.111356983G>A	ENSP00000283285:p.Gly498Glu					CD96_uc003dxx.3_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	p.G498E	NM_198196	NP_937839	P40200	TACT_HUMAN			12	1663	+			498			Pro/Ser/Thr-rich.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1493G>A	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720790	0.30503	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.64991	-0.13;-0.13	4.6	0.237	0.15475	.	1.184840	0.06003	N	0.648043	T	0.47210	0.1433	N	0.24115	0.695	0.54753	D	0.999981	B;B;B	0.20261	0.025;0.043;0.025	B;B;B	0.21546	0.016;0.035;0.016	T	0.40924	-0.9537	10	0.66056	D	0.02	-0.1159	5.5208	0.16931	0.0976:0.0:0.3927:0.5098	.	481;482;498	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	E	482;498	ENSP00000342040:G482E;ENSP00000283285:G498E	ENSP00000283285:G498E	G	+	2	0	CD96	112839673	0.055000	0.20627	0.984000	0.44739	0.694000	0.40290	0.130000	0.15850	0.218000	0.20820	0.563000	0.77884	GGA		0.383	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			A	111356983	G	A	111356983	3	1	242	1	0	0	0	0	1	0	0	0	3048	1174	41	3	1543	3	CD96	3	111356983	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	57980684	111356983	86665447	10	17162											
HPS3	84343	broad.mit.edu	37	chr3	148857895	148857895	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctcgtgtgtgtatccgaAtgattgggcataatgtggag	9	13	13	6	2	1	1	0	1	1	0	3	3	2	2	1	2	0	2	1	2	3	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:148857895A>C	ENST00000296051.2	+	2	462	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	108					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGTATCCGAATGATTGGGCA	0.423									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(322-324)Atg>Ctg		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							138	139	138					3																	148857895		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148857895A>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.322A>C	3.37:g.148857895A>C	ENSP00000296051:p.Met108Leu					HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Missense_Mutation_p.M1L	p.M108L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	462	+			108					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.322A>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	1.717	-0.497663	0.04291	.	.	ENSG00000163755	ENST00000296051	T	0.61859	0.07	5.67	4.5	0.54988	.	0.097007	0.64402	N	0.000001	T	0.43986	0.1272	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25187	-1.0139	10	0.12766	T	0.61	-30.6572	13.1857	0.59680	0.8666:0.1334:0.0:0.0	.	108	Q969F9	HPS3_HUMAN	L	108	ENSP00000296051:M108L	ENSP00000296051:M108L	M	+	1	0	HPS3	150340585	0.987000	0.35691	0.553000	0.28255	0.218000	0.24690	2.873000	0.48475	1.066000	0.40716	0.477000	0.44152	ATG		0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		C	148857895	A	C	148857895	3	2	242	1	0	0	0	0	1	0	0	0	7340	101	4	5	328	5	HPS3	3	148857895	Missense_Mutation	SNP	A	TCGA-41-2571-01A-01D-1495-08	37500912	148857895	49164535	11	17163											
CPN2	1370	broad.mit.edu	37	chr3	194062087	194062087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagcccaagtggtcccGggtgacgggacacaccagct	9	5	14	13	2	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	2	0	rs142681810		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:194062087G>A	ENST00000323830.3	-	2	1434	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CPN2_ENST00000429275.1_Missense_Mutation_p.R449W	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	449					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGTGGTCCCGGGTGACGGGA	0.647																																						uc003fts.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1345-1347)Cgg>Tgg		Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.		G	TRP/ARG	0,4406		0,0,2203	62	65	64		1345	-0.2	0	3	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CPN2	NM_001080513.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	449/546	194062087	1,13005	2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062087G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1345C>T	3.37:g.194062087G>A	ENSP00000319464:p.Arg449Trp					CPN2_uc021xix.1_Missense_Mutation_p.R449W	p.R449W	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	1	1435	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		449					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1345C>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579108	0.13686	0.0	1.16E-4	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.55052	0.54;0.54	5.33	-0.211	0.13172	.	0.811760	0.10054	N	0.721792	T	0.27866	0.0686	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.20472	-1.0274	10	0.59425	D	0.04	.	1.1586	0.01801	0.1771:0.1363:0.3498:0.3368	.	449	P22792	CPN2_HUMAN	W	449	ENSP00000319464:R449W;ENSP00000402232:R449W	ENSP00000319464:R449W	R	-	1	2	CPN2	195543782	0.031000	0.19500	0.001000	0.08648	0.269000	0.26545	0.035000	0.13797	0.025000	0.15241	0.655000	0.94253	CGG		0.647	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194062087	G	A	194062087	3	1	242	1	0	0	0	0	1	0	0	0	3810	1115	39	2	296	2	CPN2	3	194062087	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	45204192	194062087	3960343	12	17164											
TLR1	7096	broad.mit.edu	37	chr4	38798601	38798601	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctgcgccgggtctGggtccactggcacaccatcc	4	7	12	18	2	1	0	0	0	1	0	3	0	3	0	6	4	1	1	6	4	0	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:38798601G>A	ENST00000502213.2	-	3	2081	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Nonsense_Mutation_p.Q618*			Q15399	TLR1_HUMAN	toll-like receptor 1	618					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CGCCGGGTCTGGGTCCACTGG	0.522																																					GBM(5;216 373 40795 46382)	uc003gtl.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1852-1854)Cag>Tag		Homo sapiens toll-like receptor 1 (TLR1), mRNA.							81	91	87					4																	38798601		2203	4300	6503	SO:0001587	stop_gained	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798601G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1852C>T	4.37:g.38798601G>A	ENSP00000421259:p.Gln618*					TLR1_uc021xnn.1_Nonsense_Mutation_p.Q618*	p.Q618*	NM_003263	NP_003254	Q15399	TLR1_HUMAN			3	2126	-			618					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	ENST00000502213.2	37	c.1852C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	39	7.530645	0.98342	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	5.5	5.5	0.81552	.	0.220151	0.31949	N	0.006809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.5959	0.68407	0.0:0.0:0.8541:0.1459	.	.	.	.	X	618	.	ENSP00000354932:Q618X	Q	-	1	0	TLR1	38474996	0.999000	0.42202	1.000000	0.80357	0.895000	0.52256	5.248000	0.65421	2.758000	0.94735	0.563000	0.77884	CAG		0.522	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			A	38798601	G	A	38798601	4	1	242	1	0	0	0	0	0	1	0	0	15946	1357	47	3	512	3	TLR1	4	38798601	Nonsense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		38798601	152355675	13	17165											
CCDC158	339965	broad.mit.edu	37	chr4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcatagctccagcagttCgtccatgctggcccaccagc	7	9	9	16	1	0	0	0	0	0	0	3	0	2	0	4	1	5	5	4	1	1	3	rs370067451		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:77288529C>T	ENST00000388914.3	-	11	1900	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458																																						uc003hkb.4																			1	Substitution - Missense(1)	p.R583Q(2)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1747-1749)cGa>cAa		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.		C	GLN/ARG	0,3850		0,0,1925	103	98	100		1748	5.9	0.7	4		100	1,8281		0,1,4140	no	missense	CCDC158	NM_001042784.1	43	0,1,6065	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	583/1114	77288529	1,12131	1925	4141	6066	SO:0001583	missense	339965							g.chr4:77288529C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1748G>A	4.37:g.77288529C>T	ENSP00000373566:p.Arg583Gln						p.R583Q	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			10	1901	-			583					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1748G>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495739	0.85069	0.0	1.21E-4	ENSG00000163749	ENST00000388914	T	0.50548	0.74	5.95	5.95	0.96441	.	0.091907	0.45606	D	0.000358	T	0.52370	0.1730	N	0.12182	0.205	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.56025	-0.8047	10	0.46703	T	0.11	.	17.2956	0.87170	0.0:1.0:0.0:0.0	.	583	Q5M9N0	CD158_HUMAN	Q	583	ENSP00000373566:R583Q	ENSP00000373566:R583Q	R	-	2	0	CCDC158	77507553	0.611000	0.26992	0.654000	0.29608	0.889000	0.51656	1.914000	0.39966	2.826000	0.97356	0.563000	0.77884	CGA		0.458	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		T	77288529	C	T	77288529	3	4	242	1	0	0	0	0	1	0	0	0	2790	884	31	2	1649	2	CCDC158	4	77288529	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	38489928	77288529	113865747	14	17166											
PPA2	27068	broad.mit.edu	37	chr4	106317427	106317427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttatagctcctccattaCacttcttcataagcaatgct	12	15	3	11	0	2	0	1	0	1	0	4	0	4	0	2	0	4	3	2	0	6	7			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:106317427C>T	ENST00000341695.5	-	9	878	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	PPA2_ENST00000432483.2_Missense_Mutation_p.C181Y|PPA2_ENST00000380004.2_Missense_Mutation_p.C265Y|PPA2_ENST00000357415.4_Missense_Mutation_p.C298Y|PPA2_ENST00000509426.1_5'Flank|PPA2_ENST00000348706.5_Missense_Mutation_p.C254Y|PPA2_ENST00000354147.3_Missense_Mutation_p.C117Y	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	283					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCTCCATTACACTTCTTCAT	0.294																																						uc003hxl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11						c.(847-849)tGt>tAt		Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							96	90	92					4																	106317427		2203	4296	6499	SO:0001583	missense	27068				diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding	g.chr4:106317427C>T		CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.848G>A	4.37:g.106317427C>T	ENSP00000343885:p.Cys283Tyr					PPA2_uc003hxn.3_Missense_Mutation_p.C254Y|PPA2_uc003hxo.3_Missense_Mutation_p.C181Y|PPA2_uc003hxp.3_Missense_Mutation_p.C117Y|PPA2_uc003hxq.3_Missense_Mutation_p.C190Y	p.C283Y	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)	8	868	-		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)	283					B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	c.848G>A	CCDS3667.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011314	0.35511	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.61	2.75	0.32379	.	0.474164	0.22396	N	0.060612	T	0.48409	0.1498	L	0.51422	1.61	0.09310	N	0.999999	D;D;P;P;P	0.57571	0.98;0.98;0.841;0.932;0.754	P;P;P;P;B	0.57204	0.815;0.815;0.628;0.507;0.424	T	0.28073	-1.0055	10	0.54805	T	0.06	-16.3275	9.4818	0.38906	0.2142:0.3099:0.4758:0.0	.	117;181;254;265;283	Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.;.;.;.;IPYR2_HUMAN	Y	283;254;117;181;298;265	ENSP00000343885:C283Y;ENSP00000313061:C254Y;ENSP00000340352:C117Y;ENSP00000389957:C181Y;ENSP00000349996:C298Y;ENSP00000369340:C265Y	ENSP00000343885:C283Y	C	-	2	0	PPA2	106536876	0.000000	0.05858	0.721000	0.30653	0.986000	0.74619	0.697000	0.25556	1.470000	0.48102	0.655000	0.94253	TGT		0.294	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869		T	106317427	C	T	106317427	3	4	242	1	0	0	0	0	1	0	0	0	12287	478	17	3	172	3	PPA2	4	106317427	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	29028898	106317427	84836849	15	17167											
FNIP1	96459	broad.mit.edu	37	chr5	131039794	131039794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaatttgttcatgtggctTtcaaagagaggaaaatgtga	13	15	10	3	0	2	2	2	1	0	1	2	4	2	3	0	2	0	2	0	2	4	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:131039794T>C	ENST00000510461.1	-	10	1175	c.1080A>G	c.(1078-1080)gaA>gaG	p.E360E	FNIP1_ENST00000307954.8_Silent_p.E315E|FNIP1_ENST00000511848.1_Silent_p.E360E|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Silent_p.E332E	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	360					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCATGTGGCTTTCAAAGAGAG	0.269																																						uc003kvs.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1078-1080)gaA>gaG		Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.							39	42	41					5																	131039794		2202	4293	6495	SO:0001819	synonymous_variant	96459				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:131039794T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1080A>G	5.37:g.131039794T>C						RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E332E|RAPGEF6_uc010jdm.1_Silent_p.E315E|RAPGEF6_uc003kvu.3_Silent_p.E360E	p.E360E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	9	1222	-			0					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1080A>G	CCDS34227.1																																																																																				0.269	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		C	131039794	T	C	131039794	2	2	242	1	0	0	0	0	0	0	0	1	5975	1838	64	4		4	FNIP1	5	131039794	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08		131039794	49875466	16	17168											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763059	140763059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggaactggtgctggagcGggtgctggaccgggaggaag	7	5	20	9	3	0	0	0	0	0	0	0	5	0	5	2	7	4	2	2	7	2	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:140763059G>A	ENST00000518325.1	+	1	593	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGAGCGGGTGCTGGAC	0.622																																						uc003lka.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(592-594)cGg>cAg		Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.							20	24	23					5																	140763059		2108	4240	6348	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763059G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.593G>A	5.37:g.140763059G>A	ENSP00000430024:p.Arg198Gln					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R198Q	p.R198Q	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	593	+			198			Cadherin 2.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.593G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	2.156	-0.393232	0.04899	.	.	ENSG00000253537	ENST00000518325	T	0.52295	0.67	5.11	2.08	0.27032	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32941	0.0846	L	0.39085	1.19	0.09310	N	1	B;B	0.23377	0.01;0.084	B;B	0.19391	0.025;0.022	T	0.22836	-1.0205	9	0.36615	T	0.2	.	4.2343	0.10618	0.5496:0.0:0.2853:0.165	.	198;198	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	Q	198	ENSP00000430024:R198Q	ENSP00000430024:R198Q	R	+	2	0	PCDHGA7	140743243	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.051000	0.11885	0.149000	0.19098	0.655000	0.94253	CGG		0.622	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		A	140763059	G	A	140763059	3	1	242	1	0	0	0	0	1	0	0	0	11559	1116	39	2	595	2	PCDHGA7	5	140763059	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	9723265	140763059	40152201	17	17169											
HLA-E	3133	broad.mit.edu	37	chr6	30458930	30458930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcccccaaagacacaCgtgactcaccaccccatctc	12	5	5	19	1	3	3	2	1	1	2	4	3	3	3	5	0	1	0	5	0	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:30458930C>T	ENST00000376630.4	+	4	692	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CAAAGACACACGTGACTCACC	0.582																																						uc011dmh.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(748-750)caC>caT		Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.							125	145	138					6																	30458930		1511	2709	4220	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30458930C>T	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.627C>T	6.37:g.30458930C>T						HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Silent_p.H209H	p.H250H			P13747	HLAE_HUMAN			2	777	+			209			Alpha-3.|Ig-like C1-type.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.750C>T	CCDS34379.1																																																																																				0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		T	30458930	C	T	30458930	2	4	242	1	0	0	0	0	0	0	0	1	7210	535	19	1		1	HLA-E	6	30458930	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		30458930	140656137	18	17170											
DST	667	broad.mit.edu	37	chr6	56357035	56357035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttattacctgcttggctCtcttccttgcatcatccaaa	7	15	7	12	0	2	0	1	0	1	0	5	0	4	0	3	2	3	4	3	2	3	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:56357035C>G	ENST00000361203.3	-	80	19794	c.19787G>C	c.(19786-19788)aGa>aCa	p.R6596T	DST_ENST00000370754.5_Missense_Mutation_p.R6885T|DST_ENST00000340834.4_5'Flank|DST_ENST00000244364.6_Missense_Mutation_p.R4293T|DST_ENST00000370769.4_Missense_Mutation_p.R6707T|DST_ENST00000421834.2_Missense_Mutation_p.R4619T|DST_ENST00000370788.2_Missense_Mutation_p.R4510T|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6381T			Q03001	DYST_HUMAN	dystonin	6596					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTGGCTCTCTTCCTTGC	0.373																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(12877-12879)aGa>aCa		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							117	106	110					6																	56357035		1873	4108	5981	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56357035C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19787G>C	6.37:g.56357035C>G	ENSP00000354508:p.Arg6596Thr					DST_uc003pda.4_5'UTR	p.R4293T	NM_015548	NP_056363	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		65	12986	-	Lung NSC(77;0.103)		6705					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12878G>C		.	.	.	.	.	.	.	.	.	.	C	19.97	3.925233	0.73213	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.54	5.54	0.83059	.	0.000000	0.53938	D	0.000050	T	0.63965	0.2556	M	0.72118	2.19	0.34046	D	0.655574	D;D;D;D;P	0.89917	0.998;1.0;1.0;1.0;0.945	D;D;D;D;P	0.91635	0.997;0.999;0.998;0.998;0.547	T	0.59894	-0.7368	9	0.40728	T	0.16	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	4619;6707;6885;6705;4293	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	4293;6885;6707;4619;6381;4510;6596	ENSP00000244364:R4293T;ENSP00000359790:R6885T;ENSP00000359805:R6707T;ENSP00000400883:R4619T;ENSP00000393645:R6381T;ENSP00000359824:R4510T;ENSP00000354508:R6596T	ENSP00000244364:R4293T	R	-	2	0	DST	56464994	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.701000	0.84566	2.758000	0.94735	0.591000	0.81541	AGA		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56357035	C	G	56357035	3	3	242	1	0	0	0	0	1	0	0	0	4783	913	32	5	2713	5	DST	6	56357035	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	25898105	56357035	114758032	19	17171											
COL19A1	1310	broad.mit.edu	37	chr6	70878104	70878104	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccagggccacccggtccTcctgtaagtacagttgttta	8	11	9	13	1	0	0	0	0	0	0	2	0	2	0	5	2	2	4	5	2	4	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:70878104T>A	ENST00000322773.4	+	39	2640	c.2538T>A	c.(2536-2538)ccT>ccA	p.P846P	COL19A1_ENST00000393344.1_Silent_p.P468P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	846	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCGGTCCTCCTGTAAGTA	0.383																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2536-2538)ccT>ccA		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							57	60	59					6																	70878104		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70878104T>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2538T>A	6.37:g.70878104T>A							p.P846P	NM_001858	NP_001849	Q14993	COJA1_HUMAN			38	2655	+			846			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2538T>A	CCDS4970.1																																																																																				0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			A	70878104	T	A	70878104	2	1	242	1	0	0	0	0	0	0	0	1	3676	1538	54	5		5	COL19A1	6	70878104	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	14521069	70878104	100236963	20	17172											
C6orf182	285753	broad.mit.edu	37	chr6	109481832	109481832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcattcagtctgtgaCgacatagaatgtgaactaga	15	10	10	6	1	3	4	2	2	1	2	3	6	3	4	0	0	1	0	0	0	5	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:109481832C>T	ENST00000517392.1	+	10	1500	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	CEP57L1_ENST00000359793.3_Silent_p.D358D|CEP57L1_ENST00000336977.4_Silent_p.D258D|CEP57L1_ENST00000523787.1_Silent_p.D361D|CEP57L1_ENST00000368968.2_Silent_p.D358D|CEP57L1_ENST00000368970.2_Silent_p.D375D|CEP57L1_ENST00000520883.1_Silent_p.D258D|CEP57L1_ENST00000521522.1_Silent_p.D305D|CEP57L1_ENST00000407272.1_Silent_p.D358D	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	358					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAGTCTGTGACGACATAGAAT	0.343																																						uc010kdk.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(1072-1074)gaC>gaT		Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.							82	79	80					6																	109481832		2203	4298	6501	SO:0001819	synonymous_variant	285753					microtubule|microtubule organizing center		g.chr6:109481832C>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1074C>T	6.37:g.109481832C>T						CEP57L1_uc003psx.4_Silent_p.D358D|CEP57L1_uc010kdl.3_Silent_p.D358D|CEP57L1_uc003psy.4_Silent_p.D358D	p.D358D	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN			11	1651	+			358					G5E992	Silent	SNP	ENST00000517392.1	37	c.1074C>T	CCDS5071.1																																																																																				0.343	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		T	109481832	C	T	109481832	2	4	242	1	0	0	0	0	0	0	0	1	2346	535	19	1		1	C6orf182	6	109481832	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	38603728	109481832	61633235	21	17173											
TBP	6908	broad.mit.edu	37	chr6	170878836	170878836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctataaggttagaaGgccttgtgctcacccaccaa	11	11	8	11	0	1	1	1	0	0	1	2	1	2	1	4	2	1	3	4	2	5	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:170878836G>T	ENST00000392092.2	+	6	1093	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	TBP_ENST00000230354.6_Missense_Mutation_p.G272C|TBP_ENST00000540980.1_Missense_Mutation_p.G252C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	272					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368																																						uc003qxu.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(814-816)Ggc>Tgc		Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.							116	110	112					6																	170878836		2203	4300	6503	SO:0001583	missense	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170878836G>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.814G>T	6.37:g.170878836G>T	ENSP00000375942:p.Gly272Cys					TBP_uc011ehf.2_Missense_Mutation_p.G252C|TBP_uc003qxt.3_Missense_Mutation_p.G272C	p.G272C	NM_003194	NP_001165556	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	5	1093	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	272					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	c.814G>T	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840363	0.71488	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	6.17	5.3	0.74995	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.80167	-0.1495	9	0.87932	D	0	-8.0894	15.9972	0.80260	0.065:0.0:0.935:0.0	.	272	P20226	TBP_HUMAN	C	272;252;272;249	.	ENSP00000230354:G272C	G	+	1	0	TBP	170720761	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.248000	0.95456	2.941000	0.99782	0.655000	0.94253	GGC		0.368	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		T	170878836	G	T	170878836	3	4	242	1	0	0	0	0	1	0	0	0	15641	1000	35	5	832	5	TBP	6	170878836	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	61397004	170878836	236231	22	17174											
C7orf65	401335	broad.mit.edu	37	chr7	47698751	47698751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcactgacccctggaaGgatgctcaggcctggatact	8	10	12	11	0	2	1	2	1	0	0	2	4	2	4	3	5	2	2	3	5	2	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:47698751G>T	ENST00000408988.2	+	3	416	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	127										endometrium(1)|lung(2)	3						ACCCCTGGAAGGATGCTCAGG	0.552																																						uc010kyp.1																			0				endometrium(1)|lung(2)	3						c.(379-381)aaG>aaT		Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.							115	105	108					7																	47698751		1568	3582	5150	SO:0001583	missense	401335							g.chr7:47698751G>T		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.381G>T	7.37:g.47698751G>T	ENSP00000386198:p.Lys127Asn						p.K127N	NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN			2	416	+			127					A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	c.381G>T	CCDS43580.1	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054952	0.07362	.	.	ENSG00000221845	ENST00000408988	.	.	.	0.559	-0.633	0.11519	.	.	.	.	.	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.19516	-1.0303	7	0.87932	D	0	.	.	.	.	.	127	Q6ZTY9	CG065_HUMAN	N	127	.	ENSP00000386198:K127N	K	+	3	2	C7orf65	47665276	0.001000	0.12720	0.010000	0.14722	0.010000	0.07245	-0.004000	0.12878	-0.315000	0.08703	-0.310000	0.09108	AAG		0.552	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065		T	47698751	G	T	47698751	3	4	242	1	0	0	0	0	1	0	0	0	2411	991	35	5	391	5	C7orf65	7	47698751	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		47698751	111439912	23	17175											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatccaggtatatgtcttCagaagaatcagaacctcgtc	12	11	9	9	1	3	3	2	0	1	3	6	3	4	3	2	2	1	2	2	2	6	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:113558904C>T	ENST00000284601.3	-	1	216	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	50					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATATGTCTTCAGAAGAATCA	0.388																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(148-150)Gaa>Aaa		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							83	80	81					7																	113558904		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558904C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.148G>A	7.37:g.113558904C>T	ENSP00000284601:p.Glu50Lys						p.E50K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			0	179	-			50					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.148G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014099	0.93404	.	.	ENSG00000154415	ENST00000284601	T	0.18657	2.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.76002	2.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.38824	-0.9643	10	0.56958	D	0.05	-0.0502	20.8794	0.99867	0.0:1.0:0.0:0.0	.	50	Q16821	PPR3A_HUMAN	K	50	ENSP00000284601:E50K	ENSP00000284601:E50K	E	-	1	0	PPP1R3A	113346140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.605000	0.67634	2.941000	0.99782	0.655000	0.94253	GAA		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113558904	C	T	113558904	3	4	242	1	0	0	0	0	1	0	0	0	12371	835	29	3	3236	3	PPP1R3A	7	113558904	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	65860153	113558904	45579759	24	17176											
TBXAS1	6916	broad.mit.edu	37	chr7	139655361	139655361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtgaaacactgcaagCgtttcttcgaattctgcatc	9	14	7	11	2	2	1	0	1	2	0	4	2	2	1	1	0	4	3	1	0	3	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:139655361C>T	ENST00000336425.5	+	11	1032	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	TBXAS1_ENST00000414508.2_Missense_Mutation_p.R216C|TBXAS1_ENST00000263552.6_Missense_Mutation_p.R216C|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R216C|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R148C|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R215C|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R215C|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R261C|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R262C			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	215					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ACACTGCAAGCGTTTCTTCGA	0.577																																						uc011kqv.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(784-786)Cgt>Tgt		Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.							76	82	80					7																	139655361		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655361C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.643C>T	7.37:g.139655361C>T	ENSP00000338087:p.Arg215Cys					TBXAS1_uc003vvh.3_Missense_Mutation_p.R216C|TBXAS1_uc010lne.3_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.2_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.3_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.2_Missense_Mutation_p.R196C|TBXAS1_uc003vvj.3_Missense_Mutation_p.R216C	p.R262C	NM_001166253	NP_001159725	P24557	THAS_HUMAN			7	1019	+	Melanoma(164;0.0142)		215					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	C	20.6	4.024570	0.75390	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.91	5.91	0.95273	.	0.317652	0.35436	N	0.003201	T	0.80934	0.4719	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;0.999;0.999	D;D;P;D;D;P;P	0.66351	0.93;0.939;0.892;0.912;0.943;0.892;0.849	T	0.82874	-0.0241	10	0.87932	D	0	.	13.2195	0.59879	0.2617:0.7383:0.0:0.0	.	196;262;167;148;216;216;215	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	C	148;216;215;262;216;216;215;261;215	ENSP00000388736:R148C;ENSP00000263552:R216C;ENSP00000338087:R215C;ENSP00000389414:R262C;ENSP00000392361:R216C;ENSP00000392702:R216C;ENSP00000402536:R215C;ENSP00000411274:R261C;ENSP00000411326:R215C	ENSP00000263552:R216C	R	+	1	0	TBXAS1	139301830	0.016000	0.18221	0.847000	0.33407	0.694000	0.40290	1.113000	0.31184	2.793000	0.96121	0.655000	0.94253	CGT		0.577	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			T	139655361	C	T	139655361	3	4	242	1	0	0	0	0	1	0	0	0	15661	768	27	1	814	1	TBXAS1	7	139655361	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	26096457	139655361	19483302	25	17177											
TACC1	6867	broad.mit.edu	37	chr8	38677275	38677275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcggaacaaaagcagcTcatggctgtgtaactgcagt	11	9	11	10	1	1	0	1	0	0	0	3	1	2	1	1	2	5	5	1	2	4	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr8:38677275T>C	ENST00000317827.4	+	3	892	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TACC1_ENST00000518415.1_Silent_p.A126A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Silent_p.A171A|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520340.1_Silent_p.A135A|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000443286.2_Silent_p.A187A	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	171	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAAAAGCAGCTCATGGCTGTG	0.532																																						uc010lwp.3																			0		p.A171V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(511-513)gcT>gcC		Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.							86	88	88					8																	38677275		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677275T>C	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.513T>C	8.37:g.38677275T>C						TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Silent_p.A126A|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Silent_p.A187A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Silent_p.A171A|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	p.A171A	NM_006283	NP_001139688	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		2	892	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	171			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.513T>C	CCDS6109.1																																																																																				0.532	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		C	38677275	T	C	38677275	2	2	242	1	0	0	0	0	0	0	0	1	15498	1538	54	4		4	TACC1	8	38677275	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08		38677275	107686747	26	17178											
KANK1	23189	broad.mit.edu	37	chr9	732407	732407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcaagtgatgattccaGctcagatgaaagctcttctt	12	13	7	9	0	4	4	2	3	2	1	5	4	5	4	1	0	3	2	1	0	3	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:732407G>T	ENST00000382303.1	+	10	3687	c.3035G>T	c.(3034-3036)aGc>aTc	p.S1012I	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.S854I|KANK1_ENST00000382297.2_Missense_Mutation_p.S1012I	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1012					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGATTCCAGCTCAGATGAA	0.458																																						uc003zgl.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3034-3036)aGc>aTc		Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.							111	99	103					9																	732407		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732407G>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3035G>T	9.37:g.732407G>T	ENSP00000371740:p.Ser1012Ile					KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.S1012I|KANK1_uc003zgs.1_Missense_Mutation_p.S854I|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	p.S1012I	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	9	3684	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1012					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.3035G>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919674	0.92249	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	T;T;T	0.45668	0.89;0.89;0.89	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.64594	0.2612	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65475	-0.6159	10	0.72032	D	0.01	-0.9332	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1012	Q14678	KANK1_HUMAN	I	1012;35;1012;854	ENSP00000371740:S1012I;ENSP00000371734:S1012I;ENSP00000371730:S854I	ENSP00000371730:S854I	S	+	2	0	KANK1	722407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.092000	0.94157	2.660000	0.90430	0.655000	0.94253	AGC		0.458	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		T	732407	G	T	732407	3	4	242	1	0	0	0	0	1	0	0	0	7976	971	34	5	3053	5	KANK1	9	732407	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		732407	140481024	27	17179											
STXBP1	6812	broad.mit.edu	37	chr9	130444743	130444743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtaccgcagtggccccCgcctcatcattttcatcctt	6	11	8	16	3	3	0	3	0	0	0	4	1	4	0	5	1	1	2	5	1	1	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:130444743C>T	ENST00000373299.1	+	18	1721	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	STXBP1_ENST00000373302.3_Missense_Mutation_p.R536C|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	536					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAGTGGCCCCCGCCTCATCAT	0.562																																						uc004brk.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1606-1608)Cgc>Tgc		Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.							67	65	66					9																	130444743		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130444743C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1606C>T	9.37:g.130444743C>T	ENSP00000362396:p.Arg536Cys					STXBP1_uc004brl.2_Missense_Mutation_p.R536C	p.R536C	NM_003165	NP_003156	P61764	STXB1_HUMAN			17	1803	+			536					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1606C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375745	0.95923	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.79454	-1.27;-1.27	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94180	0.7431	10	0.87932	D	0	-9.7998	17.1696	0.86826	0.0:1.0:0.0:0.0	.	536;536	P61764;P61764-2	STXB1_HUMAN;.	C	490;536;368;536	ENSP00000362399:R536C;ENSP00000362396:R536C	ENSP00000362396:R536C	R	+	1	0	STXBP1	129484564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.713000	0.84693	2.644000	0.89710	0.561000	0.74099	CGC		0.562	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		T	130444743	C	T	130444743	3	4	242	1	0	0	0	0	1	0	0	0	15351	652	23	2	1676	2	STXBP1	9	130444743	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	129712336	130444743	10768688	28	17180											
LARP4B	23185	broad.mit.edu	37	chr10	882389	882389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgcaatattactatgcagCgattttgatttggccttact	10	15	7	9	2	0	1	0	1	0	0	0	2	0	1	1	1	4	2	1	1	5	7			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:882389C>T	ENST00000316157.3	-	7	744	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	235	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TACTATGCAGCGATTTTGATT	0.353																																						uc001ifs.1																			0		p.R235C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(703-705)cGc>cAc		Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.							174	169	171					10																	882389		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:882389C>T	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.704G>A	10.37:g.882389C>T	ENSP00000326128:p.Arg235His						p.R235H	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			6	745	-			235			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.704G>A	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600105	0.87055	.	.	ENSG00000107929	ENST00000316157	T	0.35973	1.28	5.85	4.95	0.65309	RNA-binding protein Lupus La (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72915	-0.4147	10	0.72032	D	0.01	-0.3617	15.1659	0.72825	0.0:0.9323:0.0:0.0677	.	235	Q92615	LAR4B_HUMAN	H	235	ENSP00000326128:R235H	ENSP00000326128:R235H	R	-	2	0	LARP4B	872389	1.000000	0.71417	0.627000	0.29227	0.806000	0.45545	7.665000	0.83852	1.472000	0.48140	0.655000	0.94253	CGC		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		T	882389	C	T	882389	3	4	242	1	0	0	0	0	1	0	0	0	8631	768	27	1	1556	1	LARP4B	10	882389	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		882389	134652358	29	17181											
CDH23	64072	broad.mit.edu	37	chr10	73462359	73462359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagtgtttgtgaacctcTtggatctcaatgacaatgac	11	12	8	10	0	2	3	1	3	2	0	3	4	2	4	2	1	1	1	2	1	3	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:73462359T>C	ENST00000224721.6	+	23	2661	c.2656T>C	c.(2656-2658)Ttg>Ctg	p.L886L	CDH23_ENST00000299366.7_Silent_p.L926L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	881	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGAACCTCTTGGATCTCAA	0.577																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2635-2637)Ttg>Ctg		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							153	162	159					10																	73462359		2004	4166	6170	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73462359T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2656T>C	10.37:g.73462359T>C						CDH23_uc001jry.3_Silent_p.L879L|CDH23_uc001jrz.3_Silent_p.L879L	p.L879L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			22	3025	+			881			Cadherin 8.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2635T>C																																																																																					0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		C	73462359	T	C	73462359	2	2	242	1	0	0	0	0	0	0	0	1	3108	1606	56	4		4	CDH23	10	73462359	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	72579970	73462359	62072388	30	17182											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							155	133	141					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717672	C	T	89717672	4	4	242	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	16255313	89717672	45817075	31	17183											
CALHM2	51063	broad.mit.edu	37	chr10	105209447	105209447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctccggtgctggcactcGgccacgaggttccaggtgtg	4	9	15	13	3	0	0	0	0	0	0	4	1	3	0	4	5	1	3	4	5	0	1	rs200157737		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:105209447G>A	ENST00000260743.5	-	3	775	c.252C>T	c.(250-252)gcC>gcT	p.A84A	CALHM2_ENST00000393235.1_Silent_p.A84A|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.A84A|CALHM2_ENST00000494180.1_5'UTR	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	84					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCTGGCACTCGGCCACGAGGT	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		17897	0		0	False		,,,				2504	0					uc001kxa.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(250-252)gcC>gcT		Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.							59	65	63					10																	105209447		2203	4300	6503	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105209447G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.252C>T	10.37:g.105209447G>A						CALHM2_uc001kxc.3_Silent_p.A84A|CALHM2_uc001kxb.3_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	p.A84A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	863	-			84					D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.252C>T	CCDS7549.1																																																																																				0.647	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		A	105209447	G	A	105209447	2	1	242	1	0	0	0	0	0	0	0	1	2583	1103	39	2		2	CALHM2	10	105209447	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	15491775	105209447	30325300	32	17184											
JAKMIP3	282973	broad.mit.edu	37	chr10	133954043	133954043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaccaaacagacaggaCggaccagaccccgtgcaccc	12	4	8	17	2	1	2	0	0	1	2	1	4	1	4	5	2	3	1	5	2	2	1	rs372190425		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:133954043C>T	ENST00000298622.4	+	9	1571	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	478						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGACAGGACGGACCAGACC	0.607																																						uc001lkx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1432-1434)aCg>aTg		Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.		C	MET/THR	1,3949		0,1,1974	51	58	56		1433	4.2	1	10		56	0,8296		0,0,4148	no	missense	JAKMIP3	NM_001105521.2	81	0,1,6122	TT,TC,CC		0.0,0.0253,0.0082	probably-damaging	478/845	133954043	1,12245	1975	4148	6123	SO:0001583	missense	282973							g.chr10:133954043C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1433C>T	10.37:g.133954043C>T	ENSP00000298622:p.Thr478Met						p.T478M	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	8	1433	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1433C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840342	0.51057	2.53E-4	0.0	ENSG00000188385	ENST00000298622	T	0.26518	1.73	4.22	4.22	0.49857	.	0.144258	0.44902	D	0.000409	T	0.37433	0.1003	L	0.43923	1.385	0.46416	D	0.999032	D	0.69078	0.997	P	0.56474	0.799	T	0.17623	-1.0363	10	0.49607	T	0.09	-12.5595	16.7501	0.85483	0.0:1.0:0.0:0.0	.	478	Q5VZ66	JKIP3_HUMAN	M	478	ENSP00000298622:T478M	ENSP00000298622:T478M	T	+	2	0	JAKMIP3	133804033	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	7.027000	0.76463	2.196000	0.70406	0.655000	0.94253	ACG		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133954043	C	T	133954043	3	4	242	1	0	0	0	0	1	0	0	0	7942	536	19	1	1467	1	JAKMIP3	10	133954043	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	28744596	133954043	1580704	33	17185											
EIF3M	10480	broad.mit.edu	37	chr11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatggtggaattgctcGgaagttacacagaggacaat	14	9	12	6	1	1	1	1	0	0	1	2	4	1	4	0	4	2	2	0	4	5	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:32615446G>A	ENST00000531120.1	+	6	631	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_ENST00000524896.1_Missense_Mutation_p.G58R	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388																																						uc001mtu.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(568-570)Gga>Aga		Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.							128	113	118					11																	32615446		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32615446G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.568G>A	11.37:g.32615446G>A	ENSP00000436049:p.Gly190Arg					EIF3M_uc010ref.2_Missense_Mutation_p.G58R	p.G190R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			5	611	+	Breast(20;0.109)		190						Missense_Mutation	SNP	ENST00000531120.1	37	c.568G>A	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648878	0.67358	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T;T	0.53640	0.61;1.04;0.61;1.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.38175	1.15	0.80722	D	1	P;P	0.41041	0.597;0.736	B;B	0.29176	0.069;0.099	T	0.17258	-1.0375	10	0.14252	T	0.57	-30.7644	20.6439	0.99570	0.0:0.0:1.0:0.0	.	58;190	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	R	190;58;127;31	ENSP00000436049:G190R;ENSP00000436787:G58R;ENSP00000319910:G127R;ENSP00000432139:G31R	ENSP00000319910:G127R	G	+	1	0	EIF3M	32572022	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.440000	0.97547	2.890000	0.99128	0.650000	0.86243	GGA		0.388	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		A	32615446	G	A	32615446	3	1	242	1	0	0	0	0	1	0	0	0	5023	1117	39	2	590	2	EIF3M	11	32615446	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		32615446	102391070	34	17186											
MS4A14	84689	broad.mit.edu	37	chr11	60183725	60183725	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatattgtgcagttcccTgaaatacaacacctacttca	12	12	4	13	0	1	1	1	1	0	0	3	1	3	1	3	0	4	2	3	0	5	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:60183725T>C	ENST00000300187.6	+	5	1561	c.1284T>C	c.(1282-1284)ccT>ccC	p.P428P	MS4A14_ENST00000531787.1_Silent_p.P316P|MS4A14_ENST00000395005.2_Silent_p.P411P|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Silent_p.P461P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	428	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGCAGTTCCCTGAAATACAAC	0.423																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1282-1284)ccT>ccC		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							89	86	87					11																	60183725		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183725T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1284T>C	11.37:g.60183725T>C						MS4A14_uc001npi.3_Silent_p.P316P|MS4A14_uc001npn.3_Silent_p.P166P|MS4A14_uc001npk.3_Silent_p.P411P|MS4A14_uc001npl.3_Silent_p.P166P|MS4A14_uc001npm.3_Silent_p.P166P	p.P428P	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	1849	+			428			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1284T>C	CCDS31569.1																																																																																				0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			C	60183725	T	C	60183725	2	2	242	1	0	0	0	0	0	0	0	1	9858	1567	55	4		4	MS4A14	11	60183725	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	27568279	60183725	74822791	35	17187											
HEPHL1	341208	broad.mit.edu	37	chr11	93796724	93796724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaacaaaaatgatgacatgGttcctcctgggaaaaactac	16	8	9	8	0	0	2	0	2	0	0	2	4	2	4	2	3	3	1	2	3	6	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:93796724G>T	ENST00000315765.9	+	3	474	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	156	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGATGACATGGTTCCTCCTGG	0.433																																						uc001pep.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(466-468)Gtt>Ttt		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.							42	43	43					11																	93796724		1913	4127	6040	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796724G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.466G>T	11.37:g.93796724G>T	ENSP00000313699:p.Val156Phe						p.V156F	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			2	623	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	156			Plastocyanin-like 1.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.466G>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038503	0.93630	.	.	ENSG00000181333	ENST00000315765	D	0.99319	-5.74	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98266	1.0501	10	0.87932	D	0	.	19.2305	0.93836	0.0:0.0:1.0:0.0	.	156	Q6MZM0	HPHL1_HUMAN	F	156	ENSP00000313699:V156F	ENSP00000313699:V156F	V	+	1	0	HEPHL1	93436372	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.515000	0.98015	2.549000	0.85964	0.655000	0.94253	GTT		0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93796724	G	T	93796724	3	4	242	1	0	0	0	0	1	0	0	0	7055	1261	44	5	476	5	HEPHL1	11	93796724	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	33612999	93796724	41209792	36	17188											
PIWIL4	143689	broad.mit.edu	37	chr11	94335056	94335056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggttgattttatgtagCgacagaactgaatatgttgc	11	14	10	6	1	0	3	0	2	0	1	0	4	0	3	1	1	3	3	1	1	5	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:94335056C>T	ENST00000299001.6	+	12	1687	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	492					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTATGTAGCGACAGAACTG	0.423																																						uc001pfa.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1474-1476)agC>agT		Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.							154	149	151					11																	94335056		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94335056C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1476C>T	11.37:g.94335056C>T						PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	p.S492S	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			11	1687	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	492					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.1476C>T	CCDS31656.1																																																																																				0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		T	94335056	C	T	94335056	2	4	242	1	0	0	0	0	0	0	0	1	11960	767	27	1		1	PIWIL4	11	94335056	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	538332	94335056	40671460	37	17189											
ANO2	57101	broad.mit.edu	37	chr12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatagaacactccatagcGcgcccattcttgatatagca	12	11	6	12	2	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	6	7	rs372991029		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:5908716G>A	ENST00000356134.5	-	11	1074	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	ANO2_ENST00000327087.8_Missense_Mutation_p.R334C|ANO2_ENST00000546188.1_Missense_Mutation_p.R335C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	339					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1000-1002)Cgc>Tgc		Homo sapiens anoctamin 2 (ANO2), mRNA.		G	CYS/ARG	1,3711		0,1,1855	78	71	73		1000	5.9	1	12		73	0,8220		0,0,4110	no	missense	ANO2	NM_020373.2	180	0,1,5965	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	334/999	5908716	1,11931	1856	4110	5966	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908716G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1003C>T	12.37:g.5908716G>A	ENSP00000348453:p.Arg335Cys						p.R334C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			9	1072	-			339					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	11.97	1.796665	0.31777	2.69E-4	0.0	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.71461	-0.57;-0.57;-0.57	5.92	5.92	0.95590	.	0.048093	0.85682	D	0.000000	T	0.73369	0.3578	M	0.84948	2.725	0.58432	D	0.999999	P	0.36438	0.553	B	0.35353	0.201	T	0.76790	-0.2829	10	0.62326	D	0.03	.	12.8416	0.57806	0.0:0.0:0.745:0.255	.	334	Q9NQ90-3	.	C	334;335;335;339	ENSP00000314048:R334C;ENSP00000348453:R335C;ENSP00000440981:R335C	ENSP00000314048:R334C	R	-	1	0	ANO2	5778977	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.647000	0.54403	2.810000	0.96702	0.585000	0.79938	CGC		0.423	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5908716	G	A	5908716	3	1	242	1	0	0	0	0	1	0	0	0	697	1087	38	1	2064	1	ANO2	12	5908716	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		5908716	127943179	38	17190											
VWF	7450	broad.mit.edu	37	chr12	6128359	6128359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaccgggatcacaatgaCcttcttcttcttcaggccct	7	11	7	16	1	5	1	2	1	3	0	5	2	5	2	4	2	0	0	4	2	1	4	rs61750078		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:6128359C>T	ENST00000261405.5	-	28	4479	c.4225G>A	c.(4225-4227)Gtc>Atc	p.V1409I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1409	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACAATGACCTTCTTCTTC	0.607																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4225-4227)Gtc>Atc		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						72	74	73					12																	6128359		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128359C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4225G>A	12.37:g.6128359C>T	ENSP00000261405:p.Val1409Ile					VWF_uc010set.1_Intron	p.V1409I	NM_000552	NP_000543	P04275	VWF_HUMAN			27	4475	-			1409			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4225G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	7.874	0.728781	0.15507	.	.	ENSG00000110799	ENST00000261405	D	0.97688	-4.49	4.92	4.0	0.46444	von Willebrand factor, type A (3);	0.000000	0.40222	N	0.001152	D	0.96827	0.8964	L	0.58428	1.81	0.80722	D	1	B	0.24768	0.111	P	0.50440	0.641	D	0.89237	0.3581	10	0.02654	T	1	.	3.8261	0.08855	0.2114:0.6116:0.0:0.177	.	1409	P04275	VWF_HUMAN	I	1409	ENSP00000261405:V1409I	ENSP00000261405:V1409I	V	-	1	0	VWF	5998620	1.000000	0.71417	0.685000	0.30070	0.842000	0.47809	2.900000	0.48687	1.244000	0.43870	0.555000	0.69702	GTC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6128359	C	T	6128359	3	4	242	1	0	0	0	0	1	0	0	0	17243	507	18	3	4316	3	VWF	12	6128359	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	219643	6128359	127723536	39	17191											
ELK3	2004	broad.mit.edu	37	chr12	96641080	96641080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgtgaccaataaaacCgacaagcacgtcaccaggcc	14	6	9	12	2	1	1	1	1	0	0	1	2	1	1	4	2	2	2	4	2	4	2	rs369779294		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:96641080C>T	ENST00000228741.3	+	3	896	c.570C>T	c.(568-570)acC>acT	p.T190T	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	190					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAATAAAACCGACAAGCACG	0.622																																						uc001teo.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(568-570)acC>acT		Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.		C		0,4406		0,0,2203	78	78	78		570	2.6	0.8	12		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELK3	NM_005230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		190/408	96641080	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641080C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.570C>T	12.37:g.96641080C>T							p.T190T	NM_005230	NP_005221	P41970	ELK3_HUMAN			2	849	+	all_cancers(2;0.00173)		190					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.570C>T	CCDS9060.1																																																																																				0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		T	96641080	C	T	96641080	2	4	242	1	0	0	0	0	0	0	0	1	5060	639	23	2		2	ELK3	12	96641080	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	90512721	96641080	37210815	40	17192											
UGGT2	55757	broad.mit.edu	37	chr13	96648323	96648323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattcagacttactttagtTtcccaaagagaaatccttga	13	13	5	10	0	1	3	1	1	0	2	3	4	3	3	3	0	1	1	3	0	4	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr13:96648323T>A	ENST00000376747.3	-	7	894	c.824A>T	c.(823-825)aAa>aTa	p.K275I	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Missense_Mutation_p.K275I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K275I|UGGT2_ENST00000376712.4_Missense_Mutation_p.K275I	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	275					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTTTAGTTTCCCAAAGAG	0.313																																						uc001vmt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(823-825)aAa>aTa		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.							116	125	122					13																	96648323		2203	4298	6501	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96648323T>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.824A>T	13.37:g.96648323T>A	ENSP00000365938:p.Lys275Ile					UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.K275I	p.K275I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			6	994	-			275					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.824A>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304452	0.40795	.	.	ENSG00000102595	ENST00000376747;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.51325	0.71;0.71	5.97	2.09	0.27110	.	0.151685	0.64402	D	0.000018	T	0.54822	0.1882	M	0.65498	2.005	0.42723	D	0.993686	P;P;B	0.49090	0.919;0.919;0.034	P;P;B	0.57057	0.812;0.812;0.025	T	0.53034	-0.8495	10	0.87932	D	0	-14.8454	4.8642	0.13600	0.0:0.2216:0.2792:0.4993	.	275;275;275	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	I	275	ENSP00000365938:K275I;ENSP00000380743:K275I	ENSP00000365902:K275I	K	-	2	0	UGGT2	95446324	0.905000	0.30787	0.997000	0.53966	0.997000	0.91878	0.792000	0.26929	0.129000	0.18514	0.477000	0.44152	AAA		0.313	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		A	96648323	T	A	96648323	3	1	242	1	0	0	0	0	1	0	0	0	16939	1841	64	5	3858	5	UGGT2	13	96648323	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08		96648323	18521555	41	17193											
C14orf135	64430	broad.mit.edu	37	chr14	60582118	60582118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcaaactgtgactgtattCtttgagaagcaaactaggct	12	12	10	7	0	1	2	0	2	1	1	1	3	1	2	0	1	4	4	0	1	5	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr14:60582118C>G	ENST00000406854.1	+	4	1850	c.1296C>G	c.(1294-1296)ttC>ttG	p.F432L	PCNXL4_ENST00000317623.4_Missense_Mutation_p.F198L|PCNXL4_ENST00000406949.1_Missense_Mutation_p.F198L|PCNXL4_ENST00000404681.2_Missense_Mutation_p.F432L			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	432						integral component of membrane (GO:0016021)											TGACTGTATTCTTTGAGAAGC	0.343																																						uc001xer.4																			0		p.V197V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18						c.(592-594)ttC>ttG		Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.							113	112	113					14																	60582118		1837	4092	5929	SO:0001583	missense	64430					integral to membrane		g.chr14:60582118C>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1296C>G	14.37:g.60582118C>G	ENSP00000384801:p.Phe432Leu					C14orf135_uc001xeq.2_Missense_Mutation_p.F198L|C14orf135_uc010apm.3_5'Flank	p.F198L	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	2	1116	+		Myeloproliferative disorder(585;0.163)	432					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.594C>G		.	.	.	.	.	.	.	.	.	.	C	11.46	1.645438	0.29246	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.26660	1.81;1.84;1.72;1.84	5.81	4.0	0.46444	.	.	.	.	.	T	0.19046	0.0457	L	0.44542	1.39	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.17098	0.017;0.017	T	0.05131	-1.0904	9	0.15499	T	0.54	.	8.658	0.34075	0.0:0.7148:0.0:0.2852	.	432;198	Q63HM2;B5MC47	CN135_HUMAN;.	L	198;432;198;432	ENSP00000317396:F198L;ENSP00000384801:F432L;ENSP00000385201:F198L;ENSP00000385713:F432L	ENSP00000317396:F198L	F	+	3	2	C14orf135	59651871	1.000000	0.71417	0.988000	0.46212	0.491000	0.33493	1.961000	0.40432	0.808000	0.34231	0.462000	0.41574	TTC		0.343	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		G	60582118	C	G	60582118	3	3	242	1	0	0	0	0	1	0	0	0	1745	912	32	5	600	5	C14orf135	14	60582118	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		60582118	46767422	42	17194											
MAP2K1	5604	broad.mit.edu	37	chr15	66679706	66679706	+	Frame_Shift_Del	DEL	G	G	-																															atgcccaagaagaagccgacGcccatccagctgaacccggc																										TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:66679706delG	ENST00000307102.5	+	1	552	c.21delG	c.(19-21)acgfs	p.T7fs	TIPIN_ENST00000561773.1_5'Flank	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	AGAAGCCGACGCCCATCCAGC	0.697																																						uc010bhq.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(19-21)acgfs		Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.							29	27	28					15																	66679706		2147	4234	6381	SO:0001589	frameshift_variant	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66679706delG	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.21delG	15.37:g.66679706delG	ENSP00000302486:p.Thr7fs						p.T7fs	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			0	496	+			7						Frame_Shift_Del	DEL	ENST00000307102.5	37	c.21delG	CCDS10216.1																																																																																				0.697	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			-	66679706	G	-	66679706	7	5	242	1	0	1	0	1	0	0	0	0	9236	1074	38	0	23	0	MAP2K1	15	66679706	Frame_Shift_Del	DEL	G	TCGA-41-2571-01A-01D-1495-08		66679706	35851686	43	17195											
SLC28A1	9154	broad.mit.edu	37	chr15	85478399	85478399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcctggctgggagacatgGtggacatccaagggctcagc	8	8	14	11	0	2	1	1	0	1	1	4	3	3	2	2	5	1	2	2	5	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:85478399G>A	ENST00000286749.3	+	13	1447	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.V453M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.V453M|SLC28A1_ENST00000394573.1_Missense_Mutation_p.V453M			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	453					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGGAGACATGGTGGACATCCA	0.592																																						uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1357-1359)Gtg>Atg		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.							108	92	97					15																	85478399		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478399G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1357G>A	15.37:g.85478399G>A	ENSP00000286749:p.Val453Met					SLC28A1_uc010bnb.3_Missense_Mutation_p.V453M|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	p.V453M	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1559	+			453					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1357G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095353	0.56075	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.19	4.28	0.50868	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.80422	2.495	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.995	D;D;D	0.70016	0.967;0.947;0.967	T	0.02450	-1.1157	10	0.59425	D	0.04	-17.5717	11.7996	0.52120	0.0848:0.0:0.9152:0.0	.	453;453;453	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	M	453	ENSP00000440546:V453M;ENSP00000444700:V453M;ENSP00000286749:V453M;ENSP00000378074:V453M	ENSP00000286749:V453M	V	+	1	0	SLC28A1	83279403	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.134000	0.64770	1.423000	0.47198	0.455000	0.32223	GTG		0.592	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85478399	G	A	85478399	3	1	242	1	0	0	0	0	1	0	0	0	14531	1261	44	3	1474	3	SLC28A1	15	85478399	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	18798693	85478399	17052993	44	17196											
MFGE8	4240	broad.mit.edu	37	chr15	89453040	89453040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcgtctcacagtggttgCccgcgtagcccttaaggcac	7	9	10	15	3	1	0	1	0	1	0	3	0	1	0	2	2	2	3	2	2	2	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:89453040C>T	ENST00000566497.1	-	2	249	c.188G>A	c.(187-189)gGc>gAc	p.G63D	MFGE8_ENST00000268150.8_Missense_Mutation_p.G63D|MFGE8_ENST00000268151.7_Missense_Mutation_p.G63D|MFGE8_ENST00000539437.1_Missense_Mutation_p.G55D|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	63	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGTGGTTGCCCGCGTAGCC	0.572																																						uc002bng.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(187-189)gGc>gAc		Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.							163	126	139					15																	89453040		2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453040C>T	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.188G>A	15.37:g.89453040C>T	ENSP00000456281:p.Gly63Asp					MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Missense_Mutation_p.G63D|MFGE8_uc010bnn.3_Missense_Mutation_p.G55D|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	p.G63D	NM_005928	NP_005919	Q08431	MFGM_HUMAN			1	301	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		63			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.188G>A	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838214	0.91117	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	D;D;D	0.99105	-5.43;-5.43;-5.43	5.39	5.39	0.77823	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.99663	1.0994	10	0.87932	D	0	-48.5807	18.0846	0.89453	0.0:1.0:0.0:0.0	.	55;55;63;63	B3KTQ2;F5H7N9;Q08431-3;Q08431	.;.;.;MFGM_HUMAN	D	63;63;55	ENSP00000268150:G63D;ENSP00000268151:G63D;ENSP00000442386:G55D	ENSP00000268150:G63D	G	-	2	0	MFGE8	87254044	1.000000	0.71417	0.216000	0.23742	0.007000	0.05969	7.380000	0.79704	2.700000	0.92200	0.561000	0.74099	GGC		0.572	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		T	89453040	C	T	89453040	3	4	242	1	0	0	0	0	1	0	0	0	9520	739	26	3	1003	3	MFGE8	15	89453040	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	3974641	89453040	13078352	45	17197											
APOB48R	55911	broad.mit.edu	37	chr16	28507386	28507386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccgggatagcctcaGgcggggaggctgggacagcc	8	3	20	10	2	1	0	1	0	0	0	1	4	1	4	3	8	2	1	3	8	1	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:28507386G>A	ENST00000431282.1	+	2	1034	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S	APOBR_ENST00000564831.1_Missense_Mutation_p.G342S|APOBR_ENST00000328423.5_Missense_Mutation_p.G342S|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	342	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GATAGCCTCAGGCGGGGAGGC	0.721																																						uc002dqb.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1024-1026)Ggc>Agc		Homo sapiens apolipoprotein B receptor (APOBR), mRNA.							11	13	12					16																	28507386		1846	3974	5820	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507386G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1024G>A	16.37:g.28507386G>A	ENSP00000416094:p.Gly342Ser					NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	p.G342S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			1	1057	+			342			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1024G>A		.	.	.	.	.	.	.	.	.	.	G	6.782	0.513222	0.12944	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61980	0.06;0.06	1.89	0.839	0.18907	.	.	.	.	.	T	0.40595	0.1123	N	0.14661	0.345	0.09310	N	1	P	0.40476	0.718	B	0.41619	0.361	T	0.25222	-1.0138	9	0.09084	T	0.74	.	8.4595	0.32919	0.0:0.2447:0.7552:0.0	.	333	Q9NS13	.	S	342	ENSP00000327669:G342S;ENSP00000416094:G342S	ENSP00000327669:G342S	G	+	1	0	APOBR	28414887	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.375000	0.07475	0.108000	0.17862	-0.416000	0.06073	GGC		0.721	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		A	28507386	G	A	28507386	3	1	242	1	0	0	0	0	1	0	0	0	786	1000	35	3	1030	3	APOB48R	16	28507386	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		28507386	61847367	46	17198											
ALDOA	226	broad.mit.edu	37	chr16	30080984	30080984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccgcacagtgcccccCgctgtcactggtgaggccca	5	6	12	18	3	1	1	1	1	0	0	1	1	1	1	5	2	2	2	5	2	0	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:30080984C>T	ENST00000566897.1	+	10	1941	c.789C>T	c.(787-789)ccC>ccT	p.P263P	ALDOA_ENST00000338110.5_Silent_p.P263P|ALDOA_ENST00000564546.1_Silent_p.P263P|ALDOA_ENST00000569798.1_Silent_p.P263P|ALDOA_ENST00000395248.1_Silent_p.P317P|ALDOA_ENST00000412304.2_Silent_p.P263P|ALDOA_ENST00000563060.2_Silent_p.P263P|ALDOA_ENST00000569545.1_Silent_p.P263P|ALDOA_ENST00000395240.3_Silent_p.P267P|ALDOA_ENST00000564595.2_Silent_p.P317P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	263					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGTGCCCCCCGCTGTCACTG	0.562																																						uc010veg.2																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(949-951)ccC>ccT		Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.							53	49	51					16																	30080984		2197	4300	6497	SO:0001819	synonymous_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080984C>T	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.789C>T	16.37:g.30080984C>T						BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Silent_p.P263P|ALDOA_uc002dvw.3_Silent_p.P263P|ALDOA_uc002dvz.3_Silent_p.P263P|ALDOA_uc002dwa.4_Silent_p.P263P|ALDOA_uc002dwc.3_Silent_p.P263P	p.P317P	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN			7	1219	+			263					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	c.951C>T	CCDS10668.1																																																																																				0.562	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		T	30080984	C	T	30080984	2	4	242	1	0	0	0	0	0	0	0	1	507	639	23	2		2	ALDOA	16	30080984	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	1573598	30080984	60273769	47	17199											
KIAA0182	23199	broad.mit.edu	37	chr16	85701868	85701868	+	Frame_Shift_Del	DEL	C	C	-																															agcacaatgggcagcaggagCcccccactgcaaggaagggc																										TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:85701868delC	ENST00000253458.7	+	14	3429	c.3253delC	c.(3253-3255)cccfs	p.P1086fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.P982fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.P1013fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1086																	GCAGCAGGAGCCCCCCACTGC	0.607																																						uc002fix.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						c.(3253-3255)cccfs		Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.							68	75	72					16																	85701868		2198	4300	6498	SO:0001589	frameshift_variant	23199						protein binding	g.chr16:85701868delC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3253delC	16.37:g.85701868delC	ENSP00000253458:p.Pro1086fs					KIAA0182_uc002fiw.3_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.3_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.3_Frame_Shift_Del_p.P265fs	p.P1085fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN			13	3327	+			1085					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.3253delC	CCDS10952.1																																																																																				0.607	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		-	85701868	C	-	85701868	7	5	242	1	0	1	0	1	0	0	0	0	8159	739	26	0	3307	0	KIAA0182	16	85701868	Frame_Shift_Del	DEL	C	TCGA-41-2571-01A-01D-1495-08	55620884	85701868	4652885	48	17200											
ABR	29	broad.mit.edu	37	chr17	914060	914060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcgtcccggcgatggcGttgatgtccatgtcactcag	6	11	13	11	4	2	2	2	2	0	0	4	3	4	2	2	2	1	1	2	2	0	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:914060G>A	ENST00000302538.5	-	20	2291	c.2145C>T	c.(2143-2145)aaC>aaT	p.N715N	ABR_ENST00000536794.2_Silent_p.N497N|ABR_ENST00000544583.2_Silent_p.N669N|ABR_ENST00000291107.2_Silent_p.N678N|ABR_ENST00000574437.1_Silent_p.N669N|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.N166N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	715	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGCGATGGCGTTGATGTCCA	0.637																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2143-2145)aaC>aaT		Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.							146	122	130					17																	914060		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:914060G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2145C>T	17.37:g.914060G>A						ABR_uc002fse.3_Silent_p.N669N|ABR_uc010vqf.2_Silent_p.N166N|ABR_uc010vqg.2_Silent_p.N497N|ABR_uc002fsg.3_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.3_Silent_p.N252N	p.N715N	NM_021962	NP_001153218	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2255	-			715			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2145C>T	CCDS10999.1																																																																																				0.637	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			A	914060	G	A	914060	2	1	242	1	0	0	0	0	0	0	0	1	99	1136	40	1		1	ABR	17	914060	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08		914060	80281150	49	17201											
MNT	4335	broad.mit.edu	37	chr17	2290511	2290511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcgccagttgcaccGcagggctgggggccgagggg	5	4	21	11	3	0	0	0	0	0	0	0	1	0	0	3	7	1	5	3	7	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:2290511G>A	ENST00000174618.4	-	6	1838	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'Flank	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	478					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGTTGCACCGCAGGGCTGGG	0.667																																						uc002fur.3																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1432-1434)gCg>gTg		Homo sapiens MAX binding protein (MNT), mRNA.							25	27	26					17																	2290511		2200	4294	6494	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2290511G>A	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1433C>T	17.37:g.2290511G>A	ENSP00000174618:p.Ala478Val						p.A478V	NM_020310	NP_064706	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	5	1685	-			478					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.1433C>T	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722983	0.68959	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.83914	-1.78	3.52	3.52	0.40303	.	0.199506	0.25027	N	0.033703	T	0.64011	0.2560	N	0.08118	0	0.30288	N	0.790616	B	0.29552	0.248	B	0.22386	0.039	T	0.63625	-0.6595	10	0.35671	T	0.21	-8.1492	10.8474	0.46751	0.0:0.0:1.0:0.0	.	478	Q99583	MNT_HUMAN	V	478	ENSP00000174618:A478V	ENSP00000174618:A478V	A	-	2	0	MNT	2237261	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.313000	0.59160	2.274000	0.75844	0.591000	0.81541	GCG		0.667	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		A	2290511	G	A	2290511	3	1	242	1	0	0	0	0	1	0	0	0	9678	1087	38	1	319	1	MNT	17	2290511	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	1376451	2290511	78904699	50	17202											
KCNJ12	3768	broad.mit.edu	37	chr17	21319073	21319073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcttctccatcgagaCgcagaccaccatcggctacg	8	9	7	17	4	2	2	0	0	2	2	6	3	3	2	4	1	1	2	4	1	1	3	rs536297311		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:21319073C>T	ENST00000583088.1	+	3	1314	c.419C>T	c.(418-420)aCg>aTg	p.T140M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T140M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	140					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCCATCGAGACGCAGACCACC	0.667										Prostate(3;0.18)			.|||	1	0.000199681	0	0	5008	,	,		35355	0.001		0	False		,,,				2504	0					uc021tss.1																			0											c.(418-420)aCg>aTg		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.							45	43	44					17																	21319073		2203	4300	6503	SO:0001583	missense	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319073C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.419C>T	17.37:g.21319073C>T	ENSP00000463778:p.Thr140Met					KCNJ18_uc002gyv.1_Missense_Mutation_p.T140M|KCNJ18_uc021tst.1_Missense_Mutation_p.T140M	p.T140M	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	789	+			140		T -> M (in TTPP2).			O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.419C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363062	0.82353	.	.	ENSG00000184185	ENST00000331718	D	0.98345	-4.88	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98378	1.0557	10	0.87932	D	0	.	18.7906	0.91973	0.0:1.0:0.0:0.0	.	140	Q14500	IRK12_HUMAN	M	140	ENSP00000328150:T140M	ENSP00000328150:T140M	T	+	2	0	KCNJ12	21259666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.448000	0.82819	0.591000	0.81541	ACG		0.667	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319073	C	T	21319073	3	4	242	1	0	0	0	0	1	0	0	0	8046	536	19	1	421	1	KCNJ12	17	21319073	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	19028562	21319073	59876137	51	17203											
COL1A1	1277	broad.mit.edu	37	chr17	48268238	48268238	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagtcagaccacggacGccatctttgccaggagagcc	9	5	13	14	2	2	2	1	0	1	2	2	4	2	3	5	3	2	0	5	3	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:48268238G>T	ENST00000225964.5	-	33	2401	c.2283C>A	c.(2281-2283)ggC>ggA	p.G761G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	761	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G761G(3)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GACCACGGACGCCATCTTTGC	0.587			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	3	Substitution - coding silent(3)	p.G761G(6)	large_intestine(3)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(2281-2283)ggC>ggA		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						119	93	102					17																	48268238		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48268238G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2283C>A	17.37:g.48268238G>T							p.G761G	NM_000088	NP_000079	P02452	CO1A1_HUMAN			32	2409	-			761			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.2283C>A	CCDS11561.1																																																																																				0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			T	48268238	G	T	48268238	2	4	242	1	0	0	0	0	0	0	0	1	3677	1074	38	5		5	COL1A1	17	48268238	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	26949165	48268238	32926972	52	17204											
GPR142	350383	broad.mit.edu	37	chr17	72367987	72367987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcatcgtgttcGcgggcttcctcctgcaggga	4	11	14	12	3	1	0	1	0	0	0	6	1	4	1	3	4	1	3	3	4	0	2	rs371610556		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:72367987G>A	ENST00000335666.4	+	4	685	c.637G>A	c.(637-639)Gcg>Acg	p.A213T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	213						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CATCGTGTTCGCGGGCTTCCT	0.652																																						uc021ucp.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(628-630)Gcg>Acg		Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81	65	70		637	0.5	1	17		70	0,8600		0,0,4300	no	missense	GPR142	NM_181790.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	213/463	72367987	1,13005	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72367987G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.637G>A	17.37:g.72367987G>A	ENSP00000335158:p.Ala213Thr					GPR142_uc010wqy.2_Missense_Mutation_p.A213T	p.A210T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			3	637	+			213					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.628G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448864	0.43531	2.27E-4	0.0	ENSG00000257008	ENST00000335666	T	0.72051	-0.62	4.99	0.525	0.17072	GPCR, rhodopsin-like superfamily (1);	0.258141	0.38058	N	0.001835	T	0.50394	0.1613	N	0.08118	0	0.25527	N	0.98731	P;D	0.57571	0.922;0.98	B;P	0.46362	0.386;0.514	T	0.52366	-0.8585	10	0.54805	T	0.06	-4.0801	9.1429	0.36914	0.3338:0.0:0.6662:0.0	.	213;1175	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	213	ENSP00000335158:A213T	ENSP00000335158:A213T	A	+	1	0	GPR142	69879582	0.924000	0.31332	0.987000	0.45799	0.963000	0.63663	1.388000	0.34442	0.043000	0.15746	0.650000	0.86243	GCG		0.652	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		A	72367987	G	A	72367987	3	1	242	1	0	0	0	0	1	0	0	0	6650	1087	38	1	651	1	GPR142	17	72367987	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	24099749	72367987	8827223	53	17205											
MCART2	147407	broad.mit.edu	37	chr18	29339972	29339972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acatggcacccaatagacctCcaccgataaaatcattgacc	15	7	5	14	1	1	2	1	1	0	1	2	3	2	2	5	1	0	1	5	1	4	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:29339972C>G	ENST00000579441.2	-	1	652	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLC25A52_ENST00000269205.5_Missense_Mutation_p.G228A			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	218					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CAATAGACCTCCACCGATAAA	0.458																																						uc002kxa.2																			0											c.(652-654)gGa>gCa		Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.							82	80	81					18																	29339972		2203	4300	6503	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29339972C>G		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.653G>C	18.37:g.29339972C>G	ENSP00000462754:p.Gly218Ala						p.G218A	NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN			0	872	-			218						Missense_Mutation	SNP	ENST00000579441.2	37	c.653G>C		.	.	.	.	.	.	.	.	.	.	C	19.39	3.818809	0.71028	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	D	0.91237	-2.81	1.22	1.22	0.21188	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93795	0.8016	M	0.80982	2.52	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	D	0.92680	0.6157	10	0.72032	D	0.01	.	8.3686	0.32402	0.0:1.0:0.0:0.0	.	218	Q3SY17	MCAR2_HUMAN	A	228;218	ENSP00000372612:G228A	ENSP00000372612:G228A	G	-	2	0	MCART2	27593970	1.000000	0.71417	0.224000	0.23877	0.763000	0.43281	4.925000	0.63425	0.992000	0.38840	0.505000	0.49811	GGA		0.458	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		G	29339972	C	G	29339972	3	3	242	1	0	0	0	0	1	0	0	0	9370	855	30	5	244	5	MCART2	18	29339972	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		29339972	48737276	54	17206											
SLC14A2	8170	broad.mit.edu	37	chr18	43205722	43205722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagtaaaaggaaagaCgacggggtggcccatcggga	15	3	17	6	3	0	1	0	0	0	1	1	6	0	4	1	6	0	1	1	6	4	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:43205722C>T	ENST00000255226.6	+	3	1041	c.225C>T	c.(223-225)gaC>gaT	p.D75D	SLC14A2_ENST00000586448.1_Silent_p.D75D	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	75					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGGAAAGACGACGGGGTGG	0.517																																						uc002lbe.3																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(223-225)gaC>gaT		Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.							68	63	65					18																	43205722		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43205722C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.225C>T	18.37:g.43205722C>T						SLC14A2_uc002lbb.3_Silent_p.D75D|SLC14A2_uc010dnj.3_Silent_p.D75D	p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN			2	1041	+			75					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.225C>T	CCDS11924.1																																																																																				0.517	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43205722	C	T	43205722	2	4	242	1	0	0	0	0	0	0	0	1	14397	535	19	1		1	SLC14A2	18	43205722	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	13865750	43205722	34871526	55	17207											
DUS3L	56931	broad.mit.edu	37	chr19	5785666	5785666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccgggtcttctccacgcCctgcgtgtccgagccccagt	3	8	12	18	5	2	0	0	0	2	0	4	1	3	0	6	1	2	0	6	1	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:5785666C>T	ENST00000309061.7	-	11	1795	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G325S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	567							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTCTCCACGCCCTGCGTGTCC	0.706																																						uc002mdc.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1699-1701)Ggc>Agc		Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.							28	30	30					19																	5785666		2199	4294	6493	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785666C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1699G>A	19.37:g.5785666C>T	ENSP00000311977:p.Gly567Ser					PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.G325S	p.G567S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			10	1796	-			567					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1699G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242647	0.95272	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.29655	1.56;1.56	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81682	-0.0822	10	0.87932	D	0	-28.4886	14.6137	0.68534	0.0:1.0:0.0:0.0	.	325;567	Q96G46-3;Q96G46	.;DUS3L_HUMAN	S	567;325	ENSP00000311977:G567S;ENSP00000315558:G325S	ENSP00000311977:G567S	G	-	1	0	DUS3L	5736666	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.411000	0.80078	2.052000	0.61016	0.555000	0.69702	GGC		0.706	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		T	5785666	C	T	5785666	3	4	242	1	0	0	0	0	1	0	0	0	4807	623	22	3	265	3	DUS3L	19	5785666	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		5785666	53343317	56	17208											
CD209	30835	broad.mit.edu	37	chr19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccacttctttgcaggCggtgatggagtcgtgccagt	5	10	14	12	2	1	1	0	1	1	0	2	2	1	2	3	4	2	1	3	4	0	2	rs139712001		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													c|||	1	0.000199681	8e-04	0	5008	,	,		17657	0		0	False		,,,				2504	0					uc002mht.2																			1	Substitution - Missense(1)	p.A283T(2)|p.T282T(1)	large_intestine(1)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(847-849)Gcc>Acc		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	9.9+/-24.2	0,4,2199	85	81	82		439,715,571,775,847,364,847	-0.1	0	19	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,8,6495	TT,TC,CC		0.0465,0.0908,0.0615	benign,benign,benign,benign,benign,benign,benign	147/269,239/361,191/313,259/381,283/399,122/244,283/405	7809880	8,12998	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809880C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.847G>A	19.37:g.7809880C>T	ENSP00000315477:p.Ala283Thr					CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	p.A283T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	914	-			283			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.847G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007084	0.35415	9.08E-4	4.65E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	3.29	-0.0555	0.13809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.27169	0.0666	L	0.45581	1.43	0.09310	N	1	D;D;P;D;P;P;D;D;D;P;D	0.89917	1.0;1.0;0.955;0.998;0.909;0.918;0.98;1.0;0.999;0.956;1.0	D;D;P;D;B;P;B;D;D;B;D	0.97110	0.955;0.967;0.799;0.964;0.234;0.522;0.421;1.0;0.951;0.345;0.996	T	0.13176	-1.0519	9	0.87932	D	0	.	2.7211	0.05201	0.2253:0.5221:0.0:0.2526	.	283;283;259;239;147;259;191;283;213;259;283	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	283;283;259;239;191;147;267	ENSP00000315477:A283T;ENSP00000346373:A283T;ENSP00000315407:A259T;ENSP00000204801:A239T;ENSP00000301357:A147T	ENSP00000204801:A239T	A	-	1	0	CD209	7715880	0.006000	0.16342	0.007000	0.13788	0.027000	0.11550	-0.132000	0.10467	0.085000	0.17107	0.455000	0.32223	GCC		0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7809880	C	T	7809880	3	4	242	1	0	0	0	0	1	0	0	0	2984	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	2024214	7809880	51319103	57	17209											
ARMC6	93436	broad.mit.edu	37	chr19	19166113	19166113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaccctgcgagccatcGcaggcaacgacgacgtgaaa	12	4	12	13	5	0	2	0	2	0	0	1	5	0	2	2	1	4	3	2	1	2	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:19166113G>T	ENST00000535612.1	+	7	1495	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	ARMC6_ENST00000392336.3_Missense_Mutation_p.A355S|ARMC6_ENST00000392335.2_Missense_Mutation_p.A330S|ARMC6_ENST00000269932.6_Missense_Mutation_p.A330S|ARMC6_ENST00000546344.1_Missense_Mutation_p.A262S	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	355					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCGAGCCATCGCAGGCAACGA	0.627																																						uc002nld.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1063-1065)Gca>Tca		Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.							113	93	100					19																	19166113		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19166113G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1063G>T	19.37:g.19166113G>T	ENSP00000444156:p.Ala355Ser					ARMC6_uc002nlc.3_Missense_Mutation_p.A330S|ARMC6_uc010xql.2_Missense_Mutation_p.A262S|ARMC6_uc010xqm.2_Missense_Mutation_p.A355S	p.A355S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		6	1495	+			355					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1063G>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.736252|3.736252	0.69189|0.69189	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535478;ENST00000535795	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.056073|.	0.64402|.	D|.	0.000001|.	T|T	0.74589|0.74589	0.3736|0.3736	M|M	0.73319|0.73319	2.225|2.225	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.49853|.	0.624|.	T|T	0.75288|0.75288	-0.3370|-0.3370	10|5	0.26408|.	T|.	0.33|.	-19.4446|-19.4446	17.0086|17.0086	0.86400|0.86400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355|.	Q6NXE6|.	ARMC6_HUMAN|.	S|L	330;355;330;262;266;355|44;18	ENSP00000376147:A330S;ENSP00000444156:A355S;ENSP00000269932:A330S;ENSP00000444341:A262S;ENSP00000376148:A355S|.	ENSP00000269932:A330S|.	A|R	+|+	1|2	0|0	ARMC6|ARMC6	19027113|19027113	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.681000|0.681000	0.39784|0.39784	7.390000|7.390000	0.79816|0.79816	2.271000|2.271000	0.75665|0.75665	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.627	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		T	19166113	G	T	19166113	3	4	242	1	0	0	0	0	1	0	0	0	955	1087	38	5	1006	5	ARMC6	19	19166113	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	11356233	19166113	39962870	58	17210											
PSG8	440533	broad.mit.edu	37	chr19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtaactgcGgatgccaccatattggtccc	8	9	13	11	1	0	1	0	1	0	0	1	2	1	2	3	4	3	1	3	4	2	3	rs200167716		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:43259170G>A	ENST00000306511.4	-	4	1055	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000404209.4_Missense_Mutation_p.R320C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483																																						uc002ouo.2																			2	Substitution - Missense(2)	p.R320C(4)	large_intestine(2)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(958-960)Cgc>Tgc		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	185	185	185		958,592,958	-2	0	19		185	1,8597		0,1,4298	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	320/420,198/298,320/427	43259170	1,13003	2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43259170G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.958C>T	19.37:g.43259170G>A	ENSP00000305005:p.Arg320Cys					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R320C|PSG8_uc010ein.3_Missense_Mutation_p.R198C|PSG3_uc002oun.3_Intron	p.R320C	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	1056	-		Prostate(69;0.00899)	320			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.958C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	4.888	0.164951	0.09287	0.0	1.16E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.38	-1.99	0.07457	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25494	0.0620	M	0.78285	2.405	0.09310	N	1	D;P;B;B;B;B	0.69078	0.997;0.594;0.02;0.005;0.005;0.006	P;B;B;B;B;B	0.61397	0.888;0.284;0.009;0.07;0.005;0.009	T	0.13737	-1.0498	9	0.51188	T	0.08	.	2.0334	0.03534	0.2288:0.0:0.475:0.2962	.	198;227;320;227;320;320	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	C	320;198;227;132;227;320	ENSP00000385869:R320C;ENSP00000385081:R198C;ENSP00000386090:R227C;ENSP00000305005:R320C	ENSP00000305005:R320C	R	-	1	0	PSG8	47951010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.436000	0.02421	-0.117000	0.11872	-1.261000	0.01458	CGC		0.483	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			A	43259170	G	A	43259170	3	1	242	1	0	0	0	0	1	0	0	0	12661	1116	39	2	351	2	PSG8	19	43259170	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	24093057	43259170	15869813	59	17211											
FAM71E1	112703	broad.mit.edu	37	chr19	50978584	50978584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggtgggggcagttacccGaagagttgcaggtgtccgtt	7	10	17	7	2	0	2	0	1	0	1	1	3	1	2	2	4	2	5	2	4	2	3	rs552107394	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:50978584G>A	ENST00000600100.1	-	3	901	c.537C>T	c.(535-537)ttC>ttT	p.F179F	EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000334976.6_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.F163F|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	179										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCAGTTACCCGAAGAGTTGCA	0.672													G|||	3	0.000599042	8e-04	0	5008	,	,		15579	0		0.002	False		,,,				2504	0					uc002psh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(535-537)ttC>ttT		Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.							39	39	39					19																	50978584		2201	4299	6500	SO:0001819	synonymous_variant	112703							g.chr19:50978584G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.537C>T	19.37:g.50978584G>A						FAM71E1_uc002psg.3_Silent_p.F163F|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	p.F179F	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	2	895	-		all_neural(266;0.131)	179					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.537C>T																																																																																					0.672	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			A	50978584	G	A	50978584	2	1	242	1	0	0	0	0	0	0	0	1	5611	1049	37	2		2	FAM71E1	19	50978584	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	7719414	50978584	8150399	60	17212											
JAG1	182	broad.mit.edu	37	chr20	10653470	10653470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgaagctgcagggccccCcggccgtgacgcgggactga	7	3	16	15	5	0	2	0	2	0	0	0	4	0	3	5	3	3	2	5	3	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:10653470C>T	ENST00000254958.5	-	2	781	c.266G>A	c.(265-267)gGg>gAg	p.G89E	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	89					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGGGCCCCCCGGCCGTGAC	0.667									Alagille Syndrome																													uc002wnw.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(265-267)gGg>gAg		Homo sapiens jagged 1 (JAG1), mRNA.							46	47	47					20																	10653470		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653470C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.266G>A	20.37:g.10653470C>T	ENSP00000254958:p.Gly89Glu						p.G89E	NM_000214	NP_000205	P78504	JAG1_HUMAN			1	782	-			89					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.266G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293797	0.60086	.	.	ENSG00000101384	ENST00000254958	D	0.97016	-4.21	5.28	4.34	0.51931	Notch ligand, N-terminal (1);	0.097855	0.64402	N	0.000001	D	0.93167	0.7824	N	0.20530	0.585	0.80722	D	1	P	0.37688	0.605	B	0.42462	0.388	D	0.93081	0.6491	10	0.54805	T	0.06	.	14.1993	0.65690	0.0:0.9275:0.0:0.0725	.	89	P78504	JAG1_HUMAN	E	89	ENSP00000254958:G89E	ENSP00000254958:G89E	G	-	2	0	JAG1	10601470	0.960000	0.32886	1.000000	0.80357	0.994000	0.84299	1.251000	0.32862	1.369000	0.46134	0.561000	0.74099	GGG		0.667	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10653470	C	T	10653470	3	4	242	1	0	0	0	0	1	0	0	0	7934	623	22	3	3490	3	JAG1	20	10653470	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		10653470	52372050	61	17213											
MACROD2	140733	broad.mit.edu	37	chr20	15210608	15210608	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccatactgtagggccAatagccaggggccatattaa	12	9	10	10	0	1	0	1	0	0	0	2	0	2	0	4	3	2	1	4	3	6	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:15210608A>T	ENST00000310348.4	+	6	441	c.441A>T	c.(439-441)ccA>ccT	p.P147P	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Silent_p.P147P			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	147	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTAGGGCCAATAGCCAGGG	0.353																																						uc002wou.3																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(439-441)ccA>ccT		Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.							82	76	78					20																	15210608		1807	4067	5874	SO:0001819	synonymous_variant	140733							g.chr20:15210608A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.441A>T	20.37:g.15210608A>T						MACROD2_uc002wot.3_Silent_p.P147P|MACROD2_uc002woz.3_5'UTR	p.P147P	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			5	705	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	147			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.441A>T	CCDS13120.2																																																																																				0.353	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		T	15210608	A	T	15210608	2	4	242	1	0	0	0	0	0	0	0	1	9146	117	5	5		5	MACROD2	20	15210608	Silent	SNP	A	TCGA-41-2571-01A-01D-1495-08	4557138	15210608	47814912	62	17214											
C22orf43	51233	broad.mit.edu	37	chr22	23974205	23974205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacaacaggtcagtatattCcccatggggcctctccatgc	10	10	8	13	0	2	0	1	0	1	0	4	0	3	0	4	3	3	1	4	3	4	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:23974205C>T	ENST00000317749.5	-	1	303	c.6G>A	c.(4-6)ggG>ggA	p.G2G	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		2										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGTATATTCCCCATGGGGC	0.547																																						uc002zxf.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(4-6)ggG>ggA		Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.							61	60	61					22																	23974205		1928	4125	6053	SO:0001819	synonymous_variant	51233							g.chr22:23974205C>T																												ENST00000317749.5:c.6G>A	22.37:g.23974205C>T							p.G2G	NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN			0	304	-			2					Q6ICJ8|Q6P4I3|Q9NU31	Silent	SNP	ENST00000317749.5	37	c.6G>A	CCDS42985.1																																																																																				0.547	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			T	23974205	C	T	23974205	2	4	242	1	0	0	0	0	0	0	0	1	2150	842	30	3		3	C22orf43	22	23974205	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		23974205	27330361	63	17215											
SF3A1	10291	broad.mit.edu	37	chr22	30738319	30738319	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgttcctggaatttggcCcattccactcggtaacacac	9	11	7	14	2	1	0	1	0	0	0	4	1	3	1	3	3	1	2	3	3	2	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:30738319C>T	ENST00000215793.8	-	6	901	c.747G>A	c.(745-747)tgG>tgA	p.W249*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.W184*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	249					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGAATTTGGCCCATTCCACTC	0.542																																						uc003ahl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(745-747)tgG>tgA		Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.							53	43	47					22																	30738319		2203	4300	6503	SO:0001587	stop_gained	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30738319C>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.747G>A	22.37:g.30738319C>T	ENSP00000215793:p.Trp249*					SF3A1_uc021wnt.1_Nonsense_Mutation_p.W184*	p.W249*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			5	879	-			249					E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	c.747G>A	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	37	6.340229	0.97489	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7928	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	184;249;146	.	ENSP00000215793:W249X	W	-	3	0	SF3A1	29068319	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.773000	0.85462	2.884000	0.98904	0.655000	0.94253	TGG		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		T	30738319	C	T	30738319	4	4	242	1	0	0	0	0	0	1	0	0	14146	624	22	3	1678	3	SF3A1	22	30738319	Nonsense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	6764114	30738319	20566247	64	17216											
FAM118A	55007	broad.mit.edu	37	chr22	45723798	45723798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacctggagcagcacatcCggagtcctgtggtgctgcag	8	7	14	12	2	0	0	0	0	0	0	2	3	2	2	3	3	4	4	3	3	0	0	rs140683394		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:45723798C>T	ENST00000216214.3	+	5	1210	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FAM118A_ENST00000405548.3_5'Flank|FAM118A_ENST00000405673.1_Missense_Mutation_p.R126W|FAM118A_ENST00000441876.2_Missense_Mutation_p.R126W	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	126						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCAGCACATCCGGAGTCCTGT	0.592													C|||	1	0.000199681	0	0	5008	,	,		20077	0		0	False		,,,				2504	0.001					uc003bfz.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(376-378)Cgg>Tgg		Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	72	61	65		376,376	5.1	1	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM118A	NM_001104595.1,NM_017911.2	101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	126/358,126/358	45723798	2,13004	2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45723798C>T	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.376C>T	22.37:g.45723798C>T	ENSP00000216214:p.Arg126Trp					FAM118A_uc003bga.4_Missense_Mutation_p.R126W|DQ586951_uc021wri.1_5'Flank|DQ586951_uc011aqp.1_5'Flank|DQ586951_uc021wrj.1_5'Flank|DQ586951_uc011aqq.1_5'Flank|FAM118A_uc011aqr.2_5'Flank	p.R126W	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	4	992	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	126					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.376C>T	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913303	0.52439	2.27E-4	1.16E-4	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673;ENST00000427777	T;T;T;T	0.46451	0.9;0.9;0.87;0.88	5.12	5.12	0.69794	.	0.134028	0.51477	D	0.000089	T	0.26919	0.0659	N	0.14661	0.345	0.80722	D	1	D	0.54397	0.966	B	0.39660	0.306	T	0.16335	-1.0406	10	0.72032	D	0.01	-2.4101	13.8442	0.63457	0.0:0.8465:0.1535:0.0	.	126	Q9NWS6	F118A_HUMAN	W	126	ENSP00000216214:R126W;ENSP00000395892:R126W;ENSP00000385231:R126W;ENSP00000395194:R126W	ENSP00000216214:R126W	R	+	1	2	FAM118A	44102462	1.000000	0.71417	0.998000	0.56505	0.492000	0.33523	4.554000	0.60760	2.390000	0.81377	0.484000	0.47621	CGG		0.592	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		T	45723798	C	T	45723798	3	4	242	1	0	0	0	0	1	0	0	0	5411	643	23	2	386	2	FAM118A	22	45723798	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	14985479	45723798	5580768	65	17217											
IL22RA1	58985	broad.mit.edu	37	chr1	24465095	24465095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatactcgatgctgtagacCgtgtctggggtgccctccgg	5	12	13	11	3	1	1	0	0	1	1	3	2	2	1	3	3	3	2	3	3	3	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:24465095C>T	ENST00000270800.1	-	2	191	c.153G>A	c.(151-153)acG>acA	p.T51T		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	51	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGCTGTAGACCGTGTCTGGGG	0.567																																						uc001biq.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(151-153)acG>acA		Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.							106	100	102					1																	24465095		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24465095C>T	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.153G>A	1.37:g.24465095C>T						IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.T51T	p.T51T	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	1	356	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	51			Fibronectin type-III 1.		A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.153G>A	CCDS247.1																																																																																				0.567	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			T	24465095	C	T	24465095	2	4	243	1	0	0	0	0	0	0	0	1	7673	639	23	2		2	IL22RA1	1	24465095	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		24465095	224785526	1	17218											
PTAFR	5724	broad.mit.edu	37	chr1	28477494	28477494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgggaagagagtgtatcgGaactcagagtccatgtggga	12	8	15	6	2	1	2	1	0	0	2	4	6	2	5	1	3	1	1	1	3	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:28477494G>A	ENST00000373857.3	-	2	673	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PTAFR_ENST00000305392.3_Silent_p.F13F|PTAFR_ENST00000539896.1_Silent_p.F13F	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	13					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGTATCGGAACTCAGAGT	0.527																																						uc009vte.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(37-39)ttC>ttT		Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.							77	68	71					1																	28477494		2203	4300	6503	SO:0001819	synonymous_variant	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477494G>A	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.39C>T	1.37:g.28477494G>A						PTAFR_uc021ojz.1_Silent_p.F13F|PTAFR_uc001bpl.3_Silent_p.F13F|PTAFR_uc001bpm.4_Silent_p.F13F|PTAFR_uc021oka.1_Silent_p.F13F	p.F13F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	374	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	13					A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	c.39C>T	CCDS318.1																																																																																				0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		A	28477494	G	A	28477494	2	1	243	1	0	0	0	0	0	0	0	1	12723	1165	41	3		3	PTAFR	1	28477494	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	4012399	28477494	220773127	2	17219											
GLIS1	148979	broad.mit.edu	37	chr1	53995480	53995480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgtgtctaggtgggtgCgctggtgcttggcgcggtcg	2	11	18	10	5	1	0	0	0	1	0	2	0	1	0	1	5	3	2	1	5	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:53995480C>T	ENST00000312233.2	-	4	1507	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TAGGTGGGTGCGCTGGTGCTT	0.657																																						uc001cvr.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(940-942)cGc>cAc		Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.							79	80	80					1																	53995480		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53995480C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.941G>A	1.37:g.53995480C>T	ENSP00000309653:p.Arg314His						p.R314H	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	1508	-			314						Missense_Mutation	SNP	ENST00000312233.2	37	c.941G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932012	0.92389	.	.	ENSG00000174332	ENST00000312233	T	0.34667	1.35	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000211	T	0.53610	0.1807	M	0.86573	2.825	0.80722	D	1	P	0.47409	0.895	P	0.48030	0.564	T	0.62450	-0.6852	10	0.39692	T	0.17	.	17.7575	0.88453	0.0:1.0:0.0:0.0	.	314	Q8NBF1	GLIS1_HUMAN	H	314	ENSP00000309653:R314H	ENSP00000309653:R314H	R	-	2	0	GLIS1	53768068	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.271000	0.75665	0.491000	0.48974	CGC		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		T	53995480	C	T	53995480	3	4	243	1	0	0	0	0	1	0	0	0	6445	768	27	1	949	1	GLIS1	1	53995480	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	25517986	53995480	195255141	3	17220											
ADAM30	11085	broad.mit.edu	37	chr1	120437661	120437661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagttggcacctggttgCaacttacaatttgattggca	10	13	9	9	0	0	1	0	1	0	0	0	1	0	1	1	3	4	5	1	3	4	6			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:120437661C>A	ENST00000369400.1	-	1	1457	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	433	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CACCTGGTTGCAACTTACAAT	0.453																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1297-1299)ttG>ttT		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							184	166	172					1																	120437661		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437661C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1299G>T	1.37:g.120437661C>A	ENSP00000358407:p.Leu433Phe						p.L433F	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	1487	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	433			Disintegrin.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1299G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303009	0.23736	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.17213	2.29	4.82	-2.31	0.06765	Blood coagulation inhibitor, Disintegrin (5);	0.821584	0.09979	N	0.731222	T	0.05547	0.0146	L	0.33624	1.015	0.09310	N	1	B	0.33212	0.402	B	0.41691	0.364	T	0.44390	-0.9331	10	0.34782	T	0.22	.	7.4424	0.27192	0.0948:0.625:0.1852:0.0949	.	433	Q9UKF2	ADA30_HUMAN	F	433	ENSP00000358407:L433F	ENSP00000358407:L433F	L	-	3	2	ADAM30	120239184	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.686000	0.05161	-0.243000	0.09653	0.563000	0.77884	TTG		0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120437661	C	A	120437661	3	1	243	1	0	0	0	0	1	0	0	0	248	709	25	5	1077	5	ADAM30	1	120437661	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	66442181	120437661	128812960	4	17221											
SEMA4A	64218	broad.mit.edu	37	chr1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagggcctccaggattttGacactctgctcctgagtggt	8	11	12	10	0	1	3	0	2	1	1	3	4	3	4	3	3	1	1	3	3	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:156126258G>C	ENST00000368285.3	+	3	460	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.D65H|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.D65H	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	65	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542																																						uc001fnl.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(193-195)Gac>Cac		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.							115	98	104					1																	156126258		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156126258G>C	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.193G>C	1.37:g.156126258G>C	ENSP00000357268:p.Asp65His					SEMA4A_uc009wrq.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.3_5'UTR|SEMA4A_uc001fno.3_Missense_Mutation_p.D65H	p.D65H	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN			2	372	+	Hepatocellular(266;0.158)		65			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.193G>C	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704119	0.68615	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	4.83	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.198080	0.43260	D	0.000585	T	0.22936	0.0554	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02075	-1.1218	10	0.32370	T	0.25	.	10.592	0.45314	0.0921:0.0:0.9079:0.0	.	65	Q9H3S1	SEM4A_HUMAN	H	65;65;65;27;27;65;65	ENSP00000401391:D65H;ENSP00000347117:D65H;ENSP00000357268:D65H;ENSP00000392865:D65H;ENSP00000357265:D65H	ENSP00000347117:D65H	D	+	1	0	SEMA4A	154392882	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.689000	0.54706	1.162000	0.42619	0.467000	0.42956	GAC		0.542	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		C	156126258	G	C	156126258	3	2	243	1	0	0	0	0	1	0	0	0	14031	1290	45	5	199	5	SEMA4A	1	156126258	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	35688597	156126258	93124363	5	17222											
ILDR2	387597	broad.mit.edu	37	chr1	166888604	166888604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacaacatcagaccacaagGgacatcctggttggaaagtc	14	7	10	10	0	1	2	1	1	0	1	3	4	2	4	2	3	1	1	2	3	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:166888604G>A	ENST00000271417.3	-	10	1963	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	ILDR2_ENST00000526687.1_Silent_p.S528S|ILDR2_ENST00000528703.1_Silent_p.S577S|ILDR2_ENST00000469934.2_Missense_Mutation_p.P412L|ILDR2_ENST00000529071.1_Silent_p.S617S|ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000525740.1_Silent_p.S509S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	636					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGACCACAAGGGACATCCTGG	0.438																																						uc001gdx.2																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1906-1908)tcC>tcT		Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.							84	73	77					1																	166888604		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166888604G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1908C>T	1.37:g.166888604G>A							p.S636S	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			9	1964	-			636						Silent	SNP	ENST00000271417.3	37	c.1908C>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255574	0.59321	.	.	ENSG00000143195	ENST00000469934	T	0.55760	0.5	6.02	4.11	0.48088	.	.	.	.	.	T	0.45478	0.1344	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51419	-0.8708	5	0.62326	D	0.03	.	9.567	0.39405	0.0709:0.0:0.778:0.1511	.	.	.	.	L	412	ENSP00000437008:P412L	ENSP00000437008:P412L	P	-	2	0	ILDR2	165155228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.270000	0.43355	0.830000	0.34757	-0.150000	0.13652	CCC		0.438	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166888604	G	A	166888604	2	1	243	1	0	0	0	0	0	0	0	1	7710	1219	43	3		3	ILDR2	1	166888604	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	10762346	166888604	82362017	6	17223											
PTPRC	5788	broad.mit.edu	37	chr1	198676014	198676014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagaatgtaaaaatgcGtctgtttccatatctcataa	14	14	5	8	1	2	1	1	0	2	1	4	1	3	1	1	0	2	2	1	0	7	5	rs137909392	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:198676014G>A	ENST00000367376.2	+	9	1002	c.831G>A	c.(829-831)gcG>gcA	p.A277A	PTPRC_ENST00000348564.6_Silent_p.A118A|PTPRC_ENST00000352140.3_Silent_p.A229A|PTPRC_ENST00000594404.1_Silent_p.A116A|PTPRC_ENST00000442510.2_Silent_p.A279A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	277					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAATGCGTCTGTTTCCA	0.299													G|||	2	0.000399361	0	0	5008	,	,		18458	0.002		0	False		,,,				2504	0					uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(829-831)gcG>gcA		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.		G	,	2,4404	4.2+/-10.8	0,2,2201	149	154	152		831,348	-6	0	1	dbSNP_134	152	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous	PTPRC	NM_002838.3,NM_080921.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	277/1305,116/1144	198676014	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198676014G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.831G>A	1.37:g.198676014G>A						PTPRC_uc001gut.1_Silent_p.A116A|PTPRC_uc009wzf.1_Silent_p.A165A|PTPRC_uc021pgy.1_Silent_p.A231A|PTPRC_uc010ppg.1_Silent_p.A213A	p.A277A	NM_002838	NP_002829	P08575	PTPRC_HUMAN			8	1011	+			277					A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.831G>A																																																																																					0.299	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	198676014	G	A	198676014	2	1	243	1	0	0	0	0	0	0	0	1	12797	1132	40	1		1	PTPRC	1	198676014	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	31787410	198676014	50574607	7	17224											
OR13G1	441933	broad.mit.edu	37	chr1	247835982	247835982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggaaacaaatggccAcatagcggtcataggccatg	15	5	13	8	1	1	1	1	0	0	1	1	3	1	2	2	4	2	0	2	4	5	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:247835982A>C	ENST00000359688.2	-	1	383	c.362T>G	c.(361-363)gTg>gGg	p.V121G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACAAATGGCCACATAGCGGTC	0.478																																						uc001idi.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(361-363)gTg>gGg		Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.							98	82	87					1																	247835982		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835982A>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.362T>G	1.37:g.247835982A>C	ENSP00000352717:p.Val121Gly						p.V121G	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	362	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		121					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.362T>G	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387765	0.42308	.	.	ENSG00000197437	ENST00000359688	T	0.00402	7.56	4.2	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.218938	0.23543	N	0.047043	T	0.01320	0.0043	H	0.95365	3.66	0.47476	D	0.999433	D	0.58970	0.984	P	0.58391	0.838	T	0.42965	-0.9420	10	0.87932	D	0	-19.7652	8.3563	0.32331	0.8238:0.0:0.0:0.1762	.	121	Q8NGZ3	O13G1_HUMAN	G	121	ENSP00000352717:V121G	ENSP00000352717:V121G	V	-	2	0	OR13G1	245902605	0.643000	0.27269	0.341000	0.25589	0.326000	0.28443	6.173000	0.71937	0.733000	0.32492	0.460000	0.39030	GTG		0.478	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		C	247835982	A	C	247835982	3	2	243	1	0	0	0	0	1	0	0	0	10942	159	6	5	565	5	OR13G1	1	247835982	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	49159968	247835982	1414639	8	17225											
ITSN2	50618	broad.mit.edu	37	chr2	24435600	24435600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcattcctttacaccgCgggtcagatgccagcttctg	7	10	12	12	2	2	1	1	0	1	1	3	1	3	1	3	3	3	2	3	3	1	4	rs146758206	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:24435600C>T	ENST00000355123.4	-	33	4451	c.4008G>A	c.(4006-4008)ccG>ccA	p.P1336P	AC009228.1_ENST00000413254.1_RNA|ITSN2_ENST00000361999.3_Silent_p.P1309P|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.P1335P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTACACCGCGGGTCAGATG	0.542													C|||	3	0.000599042	0.0015	0	5008	,	,		15496	0		0	False		,,,				2504	0.001					uc002rfe.2																			1	Substitution - coding silent(1)	p.P1335P(2)|p.R1336R(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4006-4008)ccG>ccA		Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.		C	,	11,4395	17.9+/-39.9	0,11,2192	97	97	97		4008,3927	-7.8	0.3	2	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITSN2	NM_006277.2,NM_019595.3	,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,	1336/1698,1309/1671	24435600	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24435600C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4008G>A	2.37:g.24435600C>T						ITSN2_uc002rff.2_Silent_p.P1309P	p.P1336P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			32	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1336			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4008G>A	CCDS1710.2																																																																																				0.542	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		T	24435600	C	T	24435600	2	4	243	1	0	0	0	0	0	0	0	1	7927	755	27	1		1	ITSN2	2	24435600	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		24435600	218763773	9	17226											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcgaattaatgatgcGtatggtggttttattcccaa	10	15	9	7	2	0	1	0	1	0	0	1	2	1	1	2	2	3	2	2	2	6	6	rs533150647		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:107450522G>A	ENST00000409382.3	-	3	1634	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	342					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R342C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		16791	0		0	False		,,,				2504	0					uc002tdq.3																			1	Substitution - Missense(1)	p.R342C(2)|p.I341V(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1024-1026)Cgc>Tgc		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							224	213	217					2																	107450522		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107450522G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1024C>T	2.37:g.107450522G>A	ENSP00000386942:p.Arg342Cys					ST6GAL2_uc002tdr.3_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	p.R342C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			2	1143	-			342					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1024C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78924	-1.22;-1.22;-1.22	6.03	6.03	0.97812	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94296	0.7533	10	0.87932	D	0	-37.1524	19.545	0.95291	0.0:0.0:1.0:0.0	.	342;342	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	C	342	ENSP00000355273:R342C;ENSP00000386942:R342C;ENSP00000387332:R342C	ENSP00000355273:R342C	R	-	1	0	ST6GAL2	106816954	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGC		0.393	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107450522	G	A	107450522	3	1	243	1	0	0	0	0	1	0	0	0	15221	1145	40	1	668	1	ST6GAL2	2	107450522	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	83014922	107450522	135748851	10	17227											
GALNT13	114805	broad.mit.edu	37	chr2	155099239	155099239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttgacattagagaattaCgtgaaaaatttagaagtgcc	17	11	9	4	1	0	4	0	2	0	2	0	5	0	4	1	0	2	1	1	0	8	5	rs187976407		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:155099239C>T	ENST00000392825.3	+	6	1074	c.507C>T	c.(505-507)taC>taT	p.Y169Y	GALNT13_ENST00000409237.1_Silent_p.Y169Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	169	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y169Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAGAGAATTACGTGAAAAATT	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		16929	0		0	False		,,,				2504	0					uc002tyt.4																			1	Substitution - coding silent(1)	p.Y169Y(2)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(505-507)taC>taT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.		C		0,4406		0,0,2203	32	35	34		507	0	1	2		34	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GALNT13	NM_052917.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		169/557	155099239	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099239C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.507C>T	2.37:g.155099239C>T						GALNT13_uc002tyr.4_Silent_p.Y169Y|GALNT13_uc010foc.1_5'UTR	p.Y169Y	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			3	611	+			169			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.507C>T	CCDS2199.1																																																																																				0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		T	155099239	C	T	155099239	2	4	243	1	0	0	0	0	0	0	0	1	6211	547	19	1		1	GALNT13	2	155099239	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	47648717	155099239	88100134	11	17228											
XIRP2	129446	broad.mit.edu	37	chr2	168105145	168105145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctaaaatcataacaggaAaaaccggtgtgttgccacct	15	8	9	9	1	1	0	1	0	0	0	1	1	1	1	3	3	3	2	3	3	5	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:168105145A>G	ENST00000409195.1	+	9	7332	c.7243A>G	c.(7243-7245)Aaa>Gaa	p.K2415E	XIRP2_ENST00000409273.1_Missense_Mutation_p.K2193E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2415E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2240					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATAACAGGAAAAACCGGTGT	0.438																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7243-7245)Aaa>Gaa		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							69	72	71					2																	168105145		1851	4092	5943	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105145A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7243A>G	2.37:g.168105145A>G	ENSP00000386840:p.Lys2415Glu					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.3_Intron	p.K2415E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7332	+			2240					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7243A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807378	0.31961	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03065	4.06;4.06;4.06	5.67	5.67	0.87782	.	0.185905	0.44285	D	0.000466	T	0.07007	0.0178	M	0.65975	2.015	0.29837	N	0.829527	P;P;P	0.39759	0.56;0.687;0.687	B;B;B	0.42555	0.219;0.391;0.391	T	0.08932	-1.0698	10	0.28530	T	0.3	-31.2585	9.9253	0.41489	0.9204:0.0:0.0796:0.0	.	2240;2240;2193	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	2415;2415;2193	ENSP00000386840:K2415E;ENSP00000295237:K2415E;ENSP00000387255:K2193E	ENSP00000295237:K2415E	K	+	1	0	XIRP2	167813391	0.997000	0.39634	0.973000	0.42090	0.086000	0.17979	3.242000	0.51384	2.164000	0.68074	0.533000	0.62120	AAA		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168105145	A	G	168105145	3	3	243	1	0	0	0	0	1	0	0	0	17427	15	1	4	7273	4	XIRP2	2	168105145	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	13005906	168105145	75094228	12	17229											
TTN	7273	broad.mit.edu	37	chr2	179398164	179398164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctttctcccattttaatGttggtggggggatgccagac	7	14	11	9	0	2	1	0	0	2	1	3	2	2	2	2	4	1	1	2	4	1	4	rs372299779		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:179398164G>A	ENST00000591111.1	-	308	98479	c.98255C>T	c.(98254-98256)aCa>aTa	p.T32752I	TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31825I|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34393I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25328I|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25520I|TTN_ENST00000359218.5_Missense_Mutation_p.T25453I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32752	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTTAATGTTGGTGGGGG	0.463																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95473-95475)aCa>aTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	ILE/THR,ILE/THR,ILE/THR,ILE/THR	0,3898		0,0,1949	62	62	62		75983,95474,76358,76559	5.7	1	2		62	1,8293		0,1,4146	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	89,89,89,89	0,1,6095	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25328/26927,31825/33424,25453/27052,25520/27119	179398164	1,12191	1949	4147	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398164G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98255C>T	2.37:g.179398164G>A	ENSP00000465570:p.Thr32752Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25520I|TTN_uc021vta.1_Missense_Mutation_p.T25453I|TTN_uc021vtb.1_Missense_Mutation_p.T25328I	p.T31825I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	95699	-			32752			Fibronectin type-III 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95474C>T		.	.	.	.	.	.	.	.	.	.	G	17.77	3.471973	0.63737	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79452	0.4448	M	0.64630	1.985	0.47374	D	0.999409	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.61658	0.892;0.892;0.892;0.892	T	0.80509	-0.1351	9	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	25328;25453;25520;32752	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	31825;25328;25520;25453;25325	ENSP00000343764:T31825I;ENSP00000434586:T25328I;ENSP00000340554:T25520I;ENSP00000352154:T25453I	ENSP00000340554:T25520I	T	-	2	0	TTN	179106410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.651000	0.61447	2.712000	0.92718	0.561000	0.74099	ACA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179398164	G	A	179398164	3	1	243	1	0	0	0	0	1	0	0	0	16732	1377	48	3	4821	3	TTN	2	179398164	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	11293019	179398164	63801209	13	17230											
FBLN2	2199	broad.mit.edu	37	chr3	13659763	13659763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttctcactgcaggaCgatggccgcacttgccgccc	5	8	11	17	3	1	0	1	0	1	0	2	2	1	1	4	3	2	3	4	3	0	2	rs200610728		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:13659763C>T	ENST00000295760.7	+	6	1986	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	FBLN2_ENST00000404922.3_Silent_p.D639D|FBLN2_ENST00000535798.1_Silent_p.D665D|FBLN2_ENST00000492059.1_Silent_p.D639D	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	639	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACTGCAGGACGATGGCCGCA	0.612													c|||	1	0.000199681	8e-04	0	5008	,	,		19453	0		0	False		,,,				2504	0					uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1915-1917)gaC>gaT		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							71	73	72					3																	13659763		2046	4185	6231	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659763C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1917C>T	3.37:g.13659763C>T						FBLN2_uc011auz.2_Silent_p.D665D|FBLN2_uc011avb.2_Silent_p.D639D|FBLN2_uc011ava.2_Silent_p.D639D	p.D639D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		5	2299	+			639			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1917C>T	CCDS46762.1																																																																																				0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13659763	C	T	13659763	2	4	243	1	0	0	0	0	0	0	0	1	5699	535	19	1		1	FBLN2	3	13659763	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		13659763	184362667	14	17231											
SCN10A	6336	broad.mit.edu	37	chr3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacgccagggtaatgaCgctaaaatccagccagttcc	12	8	8	13	2	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	4	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGGTAATGACGCTAAAATCC	0.458																																						uc003ciq.3																			1	Substitution - Missense(1)	p.V196I(2)	large_intestine(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(586-588)Gtc>Atc		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						169	161	163					3																	38812783		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38812783C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.586G>A	3.37:g.38812783C>T	ENSP00000390600:p.Val196Ile						p.V196I	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	3	586	-			196					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.586G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513523	0.85389	.	.	ENSG00000185313	ENST00000449082	D	0.98567	-5.0	5.15	5.15	0.70609	Ion transport (1);	0.061365	0.64402	D	0.000004	D	0.98429	0.9477	L	0.48935	1.535	0.49051	D	0.999744	D	0.89917	1.0	D	0.83275	0.996	D	0.99879	1.1109	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	196	Q9Y5Y9	SCNAA_HUMAN	I	196	ENSP00000390600:V196I	ENSP00000390600:V196I	V	-	1	0	SCN10A	38787787	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.317000	0.79018	2.665000	0.90641	0.655000	0.94253	GTC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38812783	C	T	38812783	3	4	243	1	0	0	0	0	1	0	0	0	13912	536	19	1	5380	1	SCN10A	3	38812783	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	25153020	38812783	159209647	15	17232											
GPX1	387	broad.mit.edu	37	chr3	49395545	49395545	+	IGR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctcgttcatctgggtgTagtcccggaccgtggtgcct	4	11	14	12	3	2	0	1	0	1	0	4	1	3	1	3	3	2	4	3	3	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:49395545T>G	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.Y56S|GPX1_ENST00000419349.1_Missense_Mutation_p.Y56S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATCTGGGTGTAGTCCCGGAC	0.692																																						uc021wxw.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(166-168)tAc>tCc		Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	Glutathione(DB00143)						15	18	17					3																	49395545		1928	4108	6036	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395545T>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395545T>G						GPX1_uc021wxx.1_Missense_Mutation_p.Y56S	p.Y56S	NM_000581	NP_000572	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	247	-			56					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.167A>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416286	0.83449	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.16597	2.33;2.33	5.88	3.42	0.39159	Thioredoxin-like fold (2);	0.000000	0.31167	U	0.008128	T	0.45736	0.1357	H	0.97240	3.965	0.80722	D	1	P;P	0.46859	0.885;0.866	P;P	0.51701	0.677;0.574	T	0.56866	-0.7908	10	0.87932	D	0	.	10.0556	0.42244	0.3847:0.0:0.0:0.6153	.	56;56	E9PAS1;P07203	.;GPX1_HUMAN	S	56	ENSP00000407375:Y56S;ENSP00000391316:Y56S	ENSP00000391316:Y56S	Y	-	2	0	GPX1	49370549	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.992000	0.29667	0.441000	0.26529	0.454000	0.30748	TAC		0.692	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		G	49395545	T	G	49395545	1	3	243	0	1	0	0	0	0	0	0	0	6739	1638	57	5		5	GPX1	3	49395545	IGR	SNP	T	TCGA-41-2572-01A-01D-1353-08	10582762	49395545	148626885	16	17233											
KIAA1407	57577	broad.mit.edu	37	chr3	113684122	113684122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actaccttcctacgaagttgCtgtcgcctttcttcttttac	6	17	5	13	2	2	0	0	0	2	0	4	1	3	0	3	0	4	2	3	0	4	8			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:113684122C>T	ENST00000295878.3	-	17	2837	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	897										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACGAAGTTGCTGTCGCCTTT	0.408																																						uc003eax.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2689-2691)caG>caA		Homo sapiens KIAA1407 (KIAA1407), mRNA.							145	149	148					3																	113684122		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684122C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2691G>A	3.37:g.113684122C>T							p.Q897Q	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			16	2838	-			897					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2691G>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	8.219	0.802044	0.16397	.	.	ENSG00000184307	ENST00000496083	.	.	.	5.68	-0.56	0.11789	.	.	.	.	.	T	0.59959	0.2232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59397	-0.7462	5	0.87932	D	0	.	6.8346	0.23929	0.0:0.3941:0.2186:0.3873	.	.	.	.	V	64	.	ENSP00000417579:A64V	A	+	2	0	ZDHHC23	115166812	0.879000	0.30193	0.040000	0.18447	0.193000	0.23685	-0.090000	0.11163	-0.153000	0.11137	-0.142000	0.14014	GCT		0.408	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		T	113684122	C	T	113684122	2	4	243	1	0	0	0	0	0	0	0	1	8229	796	28	3		3	KIAA1407	3	113684122	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	64288577	113684122	84338308	17	17234											
RAB43	339122	broad.mit.edu	37	chr3	128813923	128813923	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctcttggtgatgtcGtaggcaaggatggccccatt	7	11	13	10	1	1	1	0	1	1	0	3	3	2	2	3	4	1	3	3	4	2	3	rs145101068		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:128813923G>A	ENST00000315150.5	-	2	594	c.294C>T	c.(292-294)taC>taT	p.Y98Y	RAB43_ENST00000393307.1_Silent_p.Y98Y|RAB43_ENST00000393304.1_Silent_p.Y98Y|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.T314M|RAB43_ENST00000393308.1_Silent_p.Y98Y|RAB43_ENST00000476465.1_Silent_p.Y98Y|RAB43_ENST00000393305.1_Silent_p.Y98Y	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	98					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGGTGATGTCGTAGGCAAGGA	0.572																																						uc003eln.2																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(292-294)taC>taT		Homo sapiens RAB43, member RAS oncogene family (RAB43), transcript variant 1, mRNA.		G	,,,,,stop/ARG,MET/THR,	0,4404		0,0,2202	92	81	85		294,294,294,294,294,280,941,294	-4.1	0.2	3	dbSNP_134	85	1,8555	1.2+/-3.3	0,1,4277	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,stop-gained,missense,coding-synonymous	RAB43,ISY1-RAB43	NM_001204883.1,NM_001204884.1,NM_001204885.1,NM_001204886.1,NM_001204887.1,NM_001204888.1,NM_001204890.1,NM_198490.2	,,,,,,81,	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	,,,,,,,	98/213,98/213,98/213,98/213,98/156,94/109,314/332,98/213	128813923	1,12959	2202	4278	6480	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128813923G>A	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"RAB, member RAS oncogene"	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.294C>T	3.37:g.128813923G>A						ISY1-RAB43_uc003elo.2_Missense_Mutation_p.T314M|RAB43_uc021xdo.1_Nonsense_Mutation_p.R94*|RAB43_uc010hsy.2_Silent_p.Y98Y|RAB43_uc021xdp.1_Silent_p.Y98Y|RAB43_uc021xdq.1_Silent_p.Y98Y|RAB43_uc021xdr.1_Silent_p.Y98Y|RAB43_uc021xds.1_Silent_p.Y98Y	p.Y98Y	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN			1	609	-			98					A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	c.294C>T	CCDS33850.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002447	0.35320	0.0	1.17E-4	ENSG00000240682	ENST00000418265	.	.	.	4.43	-4.1	0.03940	.	0.731136	0.11404	N	0.567443	T	0.34571	0.0902	.	.	.	0.24518	N	0.994177	B	0.06786	0.001	B	0.04013	0.001	T	0.27905	-1.0060	8	0.87932	D	0	.	11.4761	0.50300	0.6532:0.0:0.3468:0.0	.	314	Q9ULR0-1	.	M	314	.	ENSP00000411822:T314M	T	-	2	0	ISY1	130296613	0.034000	0.19679	0.204000	0.23530	0.982000	0.71751	-0.498000	0.06420	-0.938000	0.03714	-0.444000	0.05651	ACG		0.572	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		A	128813923	G	A	128813923	2	1	243	1	0	0	0	0	0	0	0	1	12945	1140	40	1		1	RAB43	3	128813923	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	15129801	128813923	69208507	18	17235											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178952085	A	G	178952085	3	3	243	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	50138162	178952085	19070345	19	17236											
SPON2	10417	broad.mit.edu	37	chr4	1161329	1161329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggctcccgttgttggcGggctggacccggacgtagcg	4	7	18	12	5	0	0	0	0	0	0	1	2	1	2	2	6	1	5	2	6	1	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:1161329G>A	ENST00000290902.5	-	6	1259	c.927C>T	c.(925-927)ccC>ccT	p.P309P	SPON2_ENST00000431380.1_Silent_p.P309P|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	309	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGTTGTTGGCGGGCTGGACCC	0.682											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gco.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(925-927)ccC>ccT		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.							58	63	61					4																	1161329		2203	4300	6503	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1161329G>A	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.927C>T	4.37:g.1161329G>A			OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	SPON2_uc021xkj.1_Silent_p.P309P|SPON2_uc010ibr.3_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	p.P309P	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	1256	-			309			TSP type-1.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.927C>T	CCDS3347.1																																																																																				0.682	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			A	1161329	G	A	1161329	2	1	243	1	0	0	0	0	0	0	0	1	15082	1103	39	2		2	SPON2	4	1161329	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		1161329	189992947	20	17237											
C4orf44	345222	broad.mit.edu	37	chr4	3251162	3251162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagcagaccaagcgcaaCgccaaggtgtacgagaagat	15	4	11	11	3	1	3	1	0	0	3	1	4	1	3	2	1	4	3	2	1	6	1	rs143238822		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:3251162C>T	ENST00000438480.2	+	1	1960	c.213C>T	c.(211-213)aaC>aaT	p.N71N	MSANTD1_ENST00000510580.1_Silent_p.N71N|MSANTD1_ENST00000507492.1_Silent_p.N58N	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	71	Myb-like.									endometrium(1)|lung(2)	3						CCAAGCGCAACGCCAAGGTGT	0.612																																						uc003ggs.3																			0				endometrium(1)|lung(2)	3						c.(211-213)aaC>aaT		Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.		C		2,4398	4.2+/-10.8	0,2,2198	45	44	44		213	-1.2	1	4	dbSNP_134	44	0,8598		0,0,4299	no	coding-synonymous	C4orf44	NM_001042690.1		0,2,6497	TT,TC,CC		0.0,0.0455,0.0154		71/279	3251162	2,12996	2200	4299	6499	SO:0001819	synonymous_variant	345222							g.chr4:3251162C>T		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.213C>T	4.37:g.3251162C>T							p.N71N	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN			0	396	+			71					C9J6V0	Silent	SNP	ENST00000438480.2	37	c.213C>T	CCDS47003.1																																																																																				0.612	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		T	3251162	C	T	3251162	2	4	243	1	0	0	0	0	0	0	0	1	2272	535	19	1		1	C4orf44	4	3251162	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	2089833	3251162	187903114	21	17238											
HS3ST1	9957	broad.mit.edu	37	chr4	11401289	11401289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttctccactgtgagcTggtgtggccaggagaagggc	6	9	17	9	0	2	2	0	1	2	1	3	3	2	2	2	5	1	1	2	5	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:11401289T>C	ENST00000002596.5	-	2	1515	c.341A>G	c.(340-342)cAg>cGg	p.Q114R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	114					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACTGTGAGCTGGTGTGGCCA	0.617																																						uc003gmq.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(340-342)cAg>cGg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.							78	75	76					4																	11401289		2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401289T>C	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.341A>G	4.37:g.11401289T>C	ENSP00000002596:p.Gln114Arg					HS3ST1_uc021xmg.1_Missense_Mutation_p.Q114R	p.Q114R	NM_005114	NP_005105	O14792	HS3S1_HUMAN			1	664	-			114					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.341A>G	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642609	0.87859	.	.	ENSG00000002587	ENST00000002596	T	0.54675	0.56	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.80508	2.5	0.80722	D	1	P	0.47545	0.897	P	0.47626	0.552	T	0.68352	-0.5431	10	0.51188	T	0.08	.	15.283	0.73801	0.0:0.0:0.0:1.0	.	114	O14792	HS3S1_HUMAN	R	114	ENSP00000002596:Q114R	ENSP00000002596:Q114R	Q	-	2	0	HS3ST1	11010387	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.997000	0.88414	2.254000	0.74563	0.533000	0.62120	CAG		0.617	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		C	11401289	T	C	11401289	3	2	243	1	0	0	0	0	1	0	0	0	7363	1580	55	4	586	4	HS3ST1	4	11401289	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	8150127	11401289	179752987	22	17239											
GRSF1	2926	broad.mit.edu	37	chr4	71691907	71691907	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaaatgcagagaagaCgtagttccaaaatcagcagc	17	6	10	8	1	1	2	1	0	0	2	2	4	2	3	1	1	3	4	1	1	6	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:71691907C>A	ENST00000254799.6	-	7	1308	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	GRSF1_ENST00000545193.1_Silent_p.T279T|GRSF1_ENST00000439371.1_Silent_p.T235T|GRSF1_ENST00000502323.1_Silent_p.T235T|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	397					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCAGAGAAGACGTAGTTCCAA	0.423																																						uc010iia.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1189-1191)acG>acT		Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.							89	87	87					4																	71691907		1865	4115	5980	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691907C>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1191G>T	4.37:g.71691907C>A						GRSF1_uc011caz.1_Silent_p.T279T|GRSF1_uc003hfs.2_Silent_p.T235T	p.T397T	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1274	-		all_hematologic(202;0.21)	397					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.1191G>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.245576	0.01481	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.94	-3.69	0.04450	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	1.3035	0.0734	0.00024	0.2777:0.1863:0.2405:0.2956	.	.	.	.	L	334	.	.	R	-	2	0	GRSF1	71910771	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.844000	0.00736	-1.342000	0.02222	-0.894000	0.02916	CGT		0.423	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		A	71691907	C	A	71691907	2	1	243	1	0	0	0	0	0	0	0	1	6809	523	19	5		5	GRSF1	4	71691907	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	60290618	71691907	119462369	23	17240											
TET2	54790	broad.mit.edu	37	chr4	106155901	106155901	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgagatcactcacccaTcgcatacctcagggcagatc	10	8	8	15	1	3	2	3	1	0	2	5	3	3	2	3	1	1	2	3	1	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:106155901T>G	ENST00000540549.1	+	3	1662	c.802T>G	c.(802-804)Tcg>Gcg	p.S268A	TET2_ENST00000545826.1_Missense_Mutation_p.S268A|TET2_ENST00000513237.1_Missense_Mutation_p.S289A|TET2_ENST00000380013.4_Missense_Mutation_p.S268A|TET2_ENST00000413648.2_Missense_Mutation_p.S268A|TET2_ENST00000305737.2_Missense_Mutation_p.S268A|TET2_ENST00000394764.1_Missense_Mutation_p.S268A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	268					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTCACCCATCGCATACCTC	0.498			"Mis N, F"		MDS																																	uc011cez.2				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0		p.A289fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(865-867)Tcg>Gcg		Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.							95	86	89					4																	106155901		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155901T>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.802T>G	4.37:g.106155901T>G	ENSP00000442788:p.Ser268Ala					TET2_uc003hxk.3_Missense_Mutation_p.S268A|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268A|TET2_uc010ilp.2_Missense_Mutation_p.S268A|TET2_uc021xql.1_Missense_Mutation_p.S268A	p.S289A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	2	1270	+		Myeloproliferative disorder(5;0.0393)	268					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.865T>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777920	0.31502	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.08282	3.11;3.96;3.11;3.95;3.96;3.11;3.14	4.95	2.46	0.29980	.	13.425500	0.00834	U	0.001685	T	0.09379	0.0231	L	0.34521	1.04	0.23972	N	0.996303	B;B;B	0.17038	0.007;0.007;0.02	B;B;B	0.16722	0.007;0.007;0.016	T	0.33624	-0.9861	10	0.48119	T	0.1	.	6.9275	0.24424	0.0:0.0789:0.1506:0.7705	.	289;268;268	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	A	268;268;268;289;268;268;268;268	ENSP00000306705:S268A;ENSP00000442788:S268A;ENSP00000442867:S268A;ENSP00000425443:S289A;ENSP00000369351:S268A;ENSP00000378245:S268A;ENSP00000391448:S268A	ENSP00000265149:S268A	S	+	1	0	TET2	106375350	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	2.124000	0.42006	0.245000	0.21373	0.533000	0.62120	TCG		0.498	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		G	106155901	T	G	106155901	3	3	243	1	0	0	0	0	1	0	0	0	15767	1435	50	5	804	5	TET2	4	106155901	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	34463994	106155901	84998375	24	17241											
ACSL1	2180	broad.mit.edu	37	chr4	185681554	185681554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctgagcaacaggctcaCttcgcatgtagatattttca	12	11	7	11	1	2	2	2	1	0	1	3	2	2	2	1	1	2	4	1	1	3	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:185681554C>G	ENST00000515030.1	-	18	2064	c.1739G>C	c.(1738-1740)aGt>aCt	p.S580T	ACSL1_ENST00000281455.2_Missense_Mutation_p.S580T|ACSL1_ENST00000454703.2_Missense_Mutation_p.S409T|ACSL1_ENST00000507295.1_Missense_Mutation_p.S546T|ACSL1_ENST00000504342.1_Missense_Mutation_p.S580T|ACSL1_ENST00000513317.1_Missense_Mutation_p.S580T|ACSL1_ENST00000437665.3_Missense_Mutation_p.S409T			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	580					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGGCTCACTTCGCATGTA	0.443																																						uc003iww.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1738-1740)aGt>aCt		Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						277	291	286					4																	185681554		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681554C>G	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1739G>C	4.37:g.185681554C>G	ENSP00000422607:p.Ser580Thr					ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	p.S580T	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	17	2033	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	580					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1739G>C	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675028	0.67928	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.55	5.55	0.83447	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.55385	0.971;0.971;0.971;0.964	P;P;P;P	0.58577	0.706;0.841;0.841;0.692	T	0.35201	-0.9798	10	0.42905	T	0.14	-20.2077	19.5066	0.95118	0.0:1.0:0.0:0.0	.	546;580;580;570	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	T	409;580;176;580;546;409;580;580	ENSP00000407165:S409T;ENSP00000422607:S580T;ENSP00000425098:S176T;ENSP00000281455:S580T;ENSP00000426244:S546T;ENSP00000405687:S409T;ENSP00000425006:S580T;ENSP00000426150:S580T	ENSP00000281455:S580T	S	-	2	0	ACSL1	185918548	1.000000	0.71417	0.984000	0.44739	0.088000	0.18126	7.654000	0.83653	2.612000	0.88384	0.655000	0.94253	AGT		0.443	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		G	185681554	C	G	185681554	3	3	243	1	0	0	0	0	1	0	0	0	177	565	20	5	373	5	ACSL1	4	185681554	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	79525653	185681554	5472722	25	17242											
RNASEN	29102	broad.mit.edu	37	chr5	31508865	31508865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctcatcagactcacactCggattcactggaactctcta	10	11	6	14	1	5	1	4	0	1	1	8	3	6	3	1	2	1	0	1	2	2	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:31508865C>T	ENST00000511367.2	-	9	1694	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DROSHA_ENST00000513349.1_Missense_Mutation_p.E447K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E447K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E484K|Y_RNA_ENST00000383955.1_RNA	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	484					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GACTCACACTCGGATTCACTG	0.443																																						uc003jhg.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1450-1452)Gag>Aag		Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.							68	62	64					5																	31508865		1864	4095	5959	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31508865C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1450G>A	5.37:g.31508865C>T	ENSP00000425979:p.Glu484Lys					DROSHA_uc003jhh.2_Missense_Mutation_p.E447K|DROSHA_uc003jhi.2_Missense_Mutation_p.E447K|DROSHA_uc010iui.1_Missense_Mutation_p.E407K	p.E484K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			8	1809	-			484					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1450G>A	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.229924|3.229924	0.58777|0.58777	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188|ENST00000512076	T;T;T;T|.	0.43688|.	1.52;1.52;0.94;0.94|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.100149|.	0.64402|.	D|.	0.000002|.	T|T	0.58680|0.58680	0.2139|0.2139	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;P;B|.	0.44946|.	0.053;0.846;0.176|.	B;B;B|.	0.31191|.	0.005;0.125;0.013|.	T|T	0.53222|0.53222	-0.8469|-0.8469	10|5	0.11182|.	T|.	0.66|.	-22.7924|-22.7924	19.0753|19.0753	0.93159|0.93159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	416;447;484|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	K|Q	484;484;447;447;409;440|245	ENSP00000425979:E484K;ENSP00000339845:E484K;ENSP00000409335:E447K;ENSP00000424161:E447K|.	ENSP00000265075:E409K|.	E|R	-|-	1|2	0|0	DROSHA|DROSHA	31544622|31544622	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.985000|0.985000	0.73830|0.73830	7.433000|7.433000	0.80362|0.80362	2.515000|2.515000	0.84797|0.84797	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.443	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		T	31508865	C	T	31508865	3	4	243	1	0	0	0	0	1	0	0	0	13417	893	31	2	2782	2	RNASEN	5	31508865	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		31508865	149406395	26	17243											
SLC30A5	64924	broad.mit.edu	37	chr5	68411085	68411085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtattattgctagtaCtggctttgtgttgtaaagtt	8	18	12	3	0	0	0	0	0	0	0	0	1	0	1	0	2	2	7	0	2	6	9			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:68411085C>G	ENST00000396591.3	+	8	1244	c.634C>G	c.(634-636)Ctg>Gtg	p.L212V	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	212					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTAGTACTGGCTTTGTG	0.373																																						uc003jvh.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(634-636)Ctg>Gtg		Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.							186	173	177					5																	68411085		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68411085C>G	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.634C>G	5.37:g.68411085C>G	ENSP00000379836:p.Leu212Val					SLC30A5_uc003jvj.3_5'Flank|SLC30A5_uc003jvk.3_5'Flank|SLC30A5_uc003jvi.3_Missense_Mutation_p.L41V	p.L212V	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	7	941	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	212					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.634C>G	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922731	0.52653	.	.	ENSG00000145740	ENST00000396591	T	0.65364	-0.15	5.53	4.64	0.57946	.	0.364255	0.26601	N	0.023477	T	0.49558	0.1564	L	0.34521	1.04	0.80722	D	1	B;B	0.19583	0.037;0.006	B;B	0.22753	0.041;0.007	T	0.43718	-0.9374	10	0.36615	T	0.2	.	10.796	0.46461	0.0:0.8562:0.0:0.1438	.	41;212	Q8TAD4-2;Q8TAD4	.;ZNT5_HUMAN	V	212	ENSP00000379836:L212V	ENSP00000379836:L212V	L	+	1	2	SLC30A5	68446841	0.918000	0.31147	1.000000	0.80357	0.998000	0.95712	0.477000	0.22196	2.761000	0.94854	0.650000	0.86243	CTG		0.373	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			G	68411085	C	G	68411085	3	3	243	1	0	0	0	0	1	0	0	0	14558	564	20	5	752	5	SLC30A5	5	68411085	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	36902220	68411085	112504175	27	17244											
PCDHA3	56145	broad.mit.edu	37	chr5	140180868	140180868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctcggaggtggggagcgGccagctccactactccgtct	6	7	14	14	3	1	0	0	0	1	0	4	2	3	2	4	5	4	1	4	5	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140180868G>A	ENST00000522353.2	+	1	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G29D|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	29					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGCGGCCAGCTCCAC	0.637																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(85-87)gGc>gAc		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							57	64	61					5																	140180868		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140180868G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.86G>A	5.37:g.140180868G>A	ENSP00000429808:p.Gly29Asp					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G29D	p.G29D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	86	+			42					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.86G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.045183	0.36085	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.29142	1.58;1.58	4.65	2.77	0.32553	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.39759	U	0.001271	T	0.59595	0.2205	M	0.90595	3.13	0.22050	N	0.999394	D;P	0.61080	0.989;0.871	D;P	0.64776	0.929;0.547	T	0.60214	-0.7307	10	0.59425	D	0.04	.	14.8441	0.70246	0.0:0.2719:0.7281:0.0	.	29;29	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	D	29	ENSP00000429808:G29D;ENSP00000434086:G29D	ENSP00000429808:G29D	G	+	2	0	PCDHA3	140161052	0.995000	0.38212	1.000000	0.80357	0.054000	0.15201	2.456000	0.44997	0.455000	0.26910	0.586000	0.80456	GGC		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140180868	G	A	140180868	3	1	243	1	0	0	0	0	1	0	0	0	11525	1203	42	3	88	3	PCDHA3	5	140180868	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	71769783	140180868	40734392	28	17245											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720212	140720212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggaccagaacgacaaCgcgcccgagatcctgtaccc	10	5	11	15	4	0	2	0	0	0	2	1	5	1	3	4	1	4	2	4	1	3	1	rs150000282	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140720212C>T	ENST00000394576.2	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.622																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1672-1674)aaC>aaT		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.		C	,,	1,4405		0,1,2202	158	158	158		,1674,1674	-6.3	0	5	dbSNP_134	158	2,8598		0,2,4298	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	,558/933,558/824	140720212	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720212C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1674C>T	5.37:g.140720212C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.N558N	p.N558N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1859	+			560			Cadherin 5.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1674C>T	CCDS47289.1																																																																																				0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140720212	C	T	140720212	2	4	243	1	0	0	0	0	0	0	0	1	11554	535	19	1		1	PCDHGA2	5	140720212	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	539344	140720212	40195048	29	17246											
TRIM26	7726	broad.mit.edu	37	chr6	30153775	30153775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgttggtgaaagtcaCggtgcccccttcataatcca	8	11	9	13	2	3	1	2	1	1	0	4	1	4	1	3	2	2	1	3	2	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:30153775C>A	ENST00000454678.2	-	10	1934	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	TRIM26_ENST00000437089.1_Missense_Mutation_p.V500L|TRIM26_ENST00000453195.1_Missense_Mutation_p.V500L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	500	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GTGAAAGTCACGGTGCCCCCT	0.627																																						uc003npr.3																			0				lung(1)|ovary(2)	3						c.(1498-1500)Gtg>Ttg		Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.							69	45	54					6																	30153775		1511	2708	4219	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30153775C>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1498G>T	6.37:g.30153775C>A	ENSP00000410446:p.Val500Leu					TRIM26_uc003nps.3_Missense_Mutation_p.V500L|TRIM26_uc003npt.3_Missense_Mutation_p.V500L|TRIM26_uc010jry.3_Missense_Mutation_p.V230L	p.V500L	NM_003449	NP_003440	Q12899	TRI26_HUMAN			8	1707	-			500			B30.2/SPRY.		A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.1498G>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495273	0.64186	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.55930	0.49;0.49;0.49	5.68	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.39274	N	0.001420	T	0.35508	0.0934	L	0.39566	1.225	0.37600	D	0.920513	P;P	0.44627	0.839;0.796	P;P	0.47134	0.539;0.459	T	0.38394	-0.9663	10	0.52906	T	0.07	.	7.3148	0.26495	0.0:0.7404:0.1715:0.0881	.	500;500	Q5SRL2;Q12899	.;TRI26_HUMAN	L	500	ENSP00000391879:V500L;ENSP00000410446:V500L;ENSP00000395491:V500L	ENSP00000395491:V500L	V	-	1	0	TRIM26	30261754	0.924000	0.31332	0.977000	0.42913	0.885000	0.51271	1.890000	0.39728	2.669000	0.90835	0.544000	0.68410	GTG		0.627	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		A	30153775	C	A	30153775	3	1	243	1	0	0	0	0	1	0	0	0	16497	536	19	5	125	5	TRIM26	6	30153775	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		30153775	140961292	30	17247											
HLA-DPA1	3113	broad.mit.edu	37	chr6	33036842	33036842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccccagtgctccaccctGcagtcatagaagtcctctgc	9	8	8	16	0	2	1	1	0	1	1	4	1	4	1	5	0	4	2	5	0	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:33036842G>A	ENST00000419277.1	-	4	711	c.582C>T	c.(580-582)tgC>tgT	p.C194C	HLA-DPA1_ENST00000428995.1_Silent_p.C194C|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	194	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GCTCCACCCTGCAGTCATAGA	0.537																																						uc003ocs.2																			0				kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						c.(580-582)tgC>tgT		Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.							183	204	197					6																	33036842		1510	2709	4219	SO:0001819	synonymous_variant	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33036842G>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.582C>T	6.37:g.33036842G>A						HLA-DPA1_uc021ywg.1_Silent_p.C194C|HLA-DPA1_uc021ywh.1_Silent_p.C194C|HLA-DPA1_uc010juk.3_Silent_p.C194C	p.C194C	NM_033554	NP_291032	P20036	DPA1_HUMAN			2	689	-			194			Alpha-2.|Ig-like C1-type.		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	c.582C>T	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	G	0.679	-0.799082	0.02841	.	.	ENSG00000231389	ENST00000437811	.	.	.	3.4	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.253	0.26160	0.1299:0.0:0.87:0.0	.	.	.	.	X	62	.	.	Q	-	1	0	HLA-DPA1	33144820	0.997000	0.39634	0.809000	0.32408	0.056000	0.15407	1.901000	0.39838	1.824000	0.53156	0.643000	0.83706	CAG		0.537	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		A	33036842	G	A	33036842	2	1	243	1	0	0	0	0	0	0	0	1	7202	1311	46	3		3	HLA-DPA1	6	33036842	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	2883067	33036842	138078225	31	17248											
FAM83B	222584	broad.mit.edu	37	chr6	54805390	54805390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatactcattctcggcttCgttcctctttagtatttaaa	8	20	4	9	2	3	0	1	0	2	0	6	0	4	0	1	1	1	3	1	1	6	11			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:54805390C>T	ENST00000306858.7	+	5	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873). {ECO:0000305}.						autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCGGCTTCGTTCCTCTTT	0.418																																						uc003pck.3																			0		p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1621-1623)Cgt>Tgt		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							94	95	95					6																	54805390		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805390C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1621C>T	6.37:g.54805390C>T	ENSP00000304078:p.Arg541Cys						p.R541C	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	1737	+	Lung NSC(77;0.0178)|Renal(3;0.122)		541	R -> S (in Ref. 4; BAB70873).				Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1621C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614298	0.66672	.	.	ENSG00000168143	ENST00000306858	T	0.50813	0.73	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67122	-0.5750	10	0.87932	D	0	-18.1779	20.1253	0.97977	0.0:1.0:0.0:0.0	.	541	Q5T0W9	FA83B_HUMAN	C	541	ENSP00000304078:R541C	ENSP00000304078:R541C	R	+	1	0	FAM83B	54913349	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	2.217000	0.42880	2.832000	0.97577	0.655000	0.94253	CGT		0.418	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54805390	C	T	54805390	3	4	243	1	0	0	0	0	1	0	0	0	5634	884	31	2	1635	2	FAM83B	6	54805390	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	21768548	54805390	116309677	32	17249											
PRIM2	5558	broad.mit.edu	37	chr6	57498985	57498985	+	3'UTR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agattttggatttagtaaagGggacacattaccaggtagcc	13	11	11	6	0	0	1	0	0	0	1	0	3	0	3	2	4	2	2	2	4	5	7			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:57498985G>C	ENST00000389488.2	+	0	1336				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAGTAAAGGGGACACATTA	0.299																																						uc003pdx.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(1246-1248)Ggg>Cgg		Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.							90	81	84					6																	57498985		1839	4083	5922	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57498985G>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1333G>C	6.37:g.57498985G>C							p.G416R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1333	+			417					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1246G>C																																																																																					0.299	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		C	57498985	G	C	57498985	1	2	243	0	1	0	0	0	0	0	0	0	12491	1232	43	5		5	PRIM2	6	57498985	3'UTR	SNP	G	TCGA-41-2572-01A-01D-1353-08	2693595	57498985	113616082	33	17250											
AHR	196	broad.mit.edu	37	chr7	17375305	17375305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggcatgatagttttccGgcttcttacaaaaaacaacc	14	11	7	9	1	1	1	0	1	1	0	2	1	2	1	2	2	3	3	2	2	7	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:17375305G>A	ENST00000242057.4	+	9	1698	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	352	PAC.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATAGTTTTCCGGCTTCTTACA	0.333																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1054-1056)cGg>cAg		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							47	43	44					7																	17375305		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17375305G>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1055G>A	7.37:g.17375305G>A	ENSP00000242057:p.Arg352Gln						p.R352Q	NM_001621	NP_001612	P35869	AHR_HUMAN			8	1668	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		352			PAC.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1055G>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327592	0.95733	.	.	ENSG00000106546	ENST00000242057	T	0.35421	1.31	5.98	5.98	0.97165	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82051	-0.0649	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	352	P35869	AHR_HUMAN	Q	352	ENSP00000242057:R352Q	ENSP00000242057:R352Q	R	+	2	0	AHR	17341830	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	CGG		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17375305	G	A	17375305	3	1	243	1	0	0	0	0	1	0	0	0	416	1116	39	2	1089	2	AHR	7	17375305	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08		17375305	141763358	34	17251											
AOAH	313	broad.mit.edu	37	chr7	36571798	36571798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaagacatccagccGtggcaggggctgacctgaga	9	8	15	9	1	0	3	0	2	0	2	1	5	1	4	3	4	1	3	3	4	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:36571798G>A	ENST00000258749.5	-	18	1779	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_ENST00000535891.1_Silent_p.H428H|AOAH_ENST00000538464.1_Silent_p.H182H|AOAH_ENST00000431169.1_Silent_p.H460H|AOAH_ENST00000491444.1_5'UTR	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	460					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512																																						uc022abu.1																			2	Substitution - coding silent(2)	p.H460H(4)	urinary_tract(1)|prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1378-1380)caC>caT		Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.							106	101	103					7																	36571798		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571798G>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1380C>T	7.37:g.36571798G>A						AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	p.H460H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN			17	1781	-			460					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.1380C>T	CCDS5448.1																																																																																				0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		A	36571798	G	A	36571798	2	1	243	1	0	0	0	0	0	0	0	1	726	1136	40	1		1	AOAH	7	36571798	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	19196493	36571798	122566865	35	17252											
SMO	6608	broad.mit.edu	37	chr7	128843306	128843306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagtgtgagaatgaccGggtggagctgcccagccgta	9	6	15	11	2	0	2	0	2	0	1	0	4	0	3	4	2	3	2	4	2	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:128843306G>A	ENST00000249373.3	+	2	693	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	138	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GAGAATGACCGGGTGGAGCTG	0.672			Mis		skin basal cell																																	uc003vor.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(412-414)cGg>cAg		Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.							29	23	25					7																	128843306		2201	4297	6498	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128843306G>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.413G>A	7.37:g.128843306G>A	ENSP00000249373:p.Arg138Gln						p.R138Q	NM_005631	NP_005622	Q99835	SMO_HUMAN			1	693	+			138			FZ.		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.413G>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874345	0.51695	.	.	ENSG00000128602	ENST00000249373	T	0.80123	-1.34	5.5	5.5	0.81552	Frizzled domain (5);	0.191611	0.43260	D	0.000595	T	0.63954	0.2555	N	0.25094	0.71	0.30013	N	0.814992	B	0.31026	0.304	B	0.22753	0.041	T	0.58736	-0.7584	10	0.15499	T	0.54	.	10.3558	0.43962	0.0882:0.0:0.9118:0.0	.	138	Q99835	SMO_HUMAN	Q	138	ENSP00000249373:R138Q	ENSP00000249373:R138Q	R	+	2	0	SMO	128630542	0.955000	0.32602	0.998000	0.56505	0.983000	0.72400	3.455000	0.52993	2.584000	0.87258	0.563000	0.77884	CGG		0.672	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		A	128843306	G	A	128843306	3	1	243	1	0	0	0	0	1	0	0	0	14800	1116	39	2	419	2	SMO	7	128843306	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	92271508	128843306	30295357	36	17253											
KEL	3792	broad.mit.edu	37	chr7	142639595	142639595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtctccccatggtgccGtaacagcctcttgctgtatg	7	11	10	13	1	2	0	0	0	2	0	3	1	2	0	4	1	4	3	4	1	2	3	rs370938244		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:142639595G>A	ENST00000355265.2	-	18	2437	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	655					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R655W(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATGGTGCCGTAACAGCCTC	0.597																																						uc003wcb.3																			1	Substitution - Missense(1)	p.R655W(2)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1963-1965)Cgg>Tgg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59	40	46		1963	-8.7	0	7		46	0,8600		0,0,4300	no	missense	KEL	NM_000420.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	655/733	142639595	1,13005	2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639595G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1963C>T	7.37:g.142639595G>A	ENSP00000347409:p.Arg655Trp						p.R655W	NM_000420	NP_000411	P23276	KELL_HUMAN			17	2173	-	Melanoma(164;0.059)		655					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1963C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	6.176	0.400625	0.11696	2.27E-4	0.0	ENSG00000197993	ENST00000355265	D	0.90788	-2.73	4.34	-8.67	0.00863	Peptidase M13, neprilysin, C-terminal (1);	3.616020	0.01020	N	0.003977	T	0.82093	0.4962	L	0.33093	0.98	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.68842	-0.5302	10	0.44086	T	0.13	-22.5163	3.9028	0.09169	0.0966:0.2072:0.4197:0.2765	.	655	P23276	KELL_HUMAN	W	655	ENSP00000347409:R655W	ENSP00000347409:R655W	R	-	1	2	KEL	142349717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.704000	0.00822	-3.552000	0.00142	-1.446000	0.01064	CGG		0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142639595	G	A	142639595	3	1	243	1	0	0	0	0	1	0	0	0	8142	1144	40	1	243	1	KEL	7	142639595	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13796289	142639595	16499068	37	17254											
AGAP3	116988	broad.mit.edu	37	chr7	150835302	150835302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggcctgggctggccCgcgccctgaggggctgcacc	3	5	16	17	3	0	1	0	1	0	0	1	1	0	1	4	5	2	4	4	5	0	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:150835302C>T	ENST00000397238.2	+	12	1568	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	487	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGGCTGGCCCGCGCCCTGAG	0.716																																						uc003wjg.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1567-1569)cCg>cTg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.																																				SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150835302C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1568C>T	7.37:g.150835302C>T	ENSP00000380413:p.Pro523Leu					AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	p.P523L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			11	1571	+			487			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.1568C>T	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040864	0.19669	.	.	ENSG00000133612	ENST00000397238;ENST00000335355	T	0.68903	-0.36	3.94	3.06	0.35304	.	1.139550	0.06662	N	0.764713	T	0.54431	0.1858	N	0.24115	0.695	0.23649	N	0.997202	B	0.02656	0.0	B	0.04013	0.001	T	0.43114	-0.9411	10	0.39692	T	0.17	.	10.6091	0.45410	0.0:0.905:0.0:0.095	.	523	Q96P47-4	.	L	523;487	ENSP00000380413:P523L	ENSP00000334157:P487L	P	+	2	0	AGAP3	150466235	0.001000	0.12720	0.002000	0.10522	0.563000	0.35712	0.046000	0.14035	0.848000	0.35191	0.462000	0.41574	CCG		0.716	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		T	150835302	C	T	150835302	3	4	243	1	0	0	0	0	1	0	0	0	369	652	23	2	1681	2	AGAP3	7	150835302	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	8195707	150835302	8303361	38	17255											
NUB1	51667	broad.mit.edu	37	chr7	151065966	151065966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactcatattaccaaccGcagagaggtacccactttca	12	8	7	14	1	2	1	2	0	0	1	2	2	2	1	4	2	3	2	4	2	4	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:151065966G>A	ENST00000355851.4	+	11	1318	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	NUB1_ENST00000413040.2_Missense_Mutation_p.R438H|NUB1_ENST00000566856.1_Missense_Mutation_p.R414H|NUB1_ENST00000568733.1_Missense_Mutation_p.R438H	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	414					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTACCAACCGCAGAGAGGTA	0.483																																						uc003wjx.3																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1312-1314)cGc>cAc		Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.							52	51	51					7																	151065966		1920	4126	6046	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151065966G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1241G>A	7.37:g.151065966G>A	ENSP00000348110:p.Arg414His					NUB1_uc003wjw.3_Missense_Mutation_p.R414H|AK055458_uc003wjz.1_5'Flank	p.R438H	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	10	1329	+			414			NEDD8-binding 1.|UBA 2.		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1313G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.602017|4.602017	0.87055|0.87055	.|.	.|.	ENSG00000013374|ENSG00000013374	ENST00000460712|ENST00000413040;ENST00000355851	.|T	.|0.51817	.|0.69	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	.|0.117180	.|0.53938	.|D	.|0.000044	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.66939|0.66939	2.045|2.045	0.50313|0.50313	D|D	0.999866|0.999866	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.935;0.984	T|T	0.65817|0.65817	-0.6076|-0.6076	5|10	.|0.56958	.|D	.|0.05	-12.6699|-12.6699	11.7792|11.7792	0.52003|0.52003	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	.|414;414	.|Q9Y5A7;Q9Y5A7-2	.|NUB1_HUMAN;.	T|H	50|414	.|ENSP00000348110:R414H	.|ENSP00000348110:R414H	A|R	+|+	1|2	0|0	NUB1|NUB1	150696899|150696899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.456000|4.456000	0.60081|0.60081	2.564000|2.564000	0.86499|0.86499	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.483	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		A	151065966	G	A	151065966	3	1	243	1	0	0	0	0	1	0	0	0	10714	1087	38	1	1279	1	NUB1	7	151065966	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	230664	151065966	8072697	39	17256											
CTSB	1508	broad.mit.edu	37	chr8	11706616	11706616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgacacctccacgctgaCgtgcgcattggtgtggatgc	6	8	13	14	5	0	1	0	1	0	0	1	3	1	2	3	2	2	2	3	2	0	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:11706616C>T	ENST00000353047.6	-	5	638	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	CTSB_ENST00000531089.1_Missense_Mutation_p.V129I|CTSB_ENST00000453527.2_Missense_Mutation_p.V129I|CTSB_ENST00000415599.2_Intron|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.V129I|CTSB_ENST00000530640.2_Missense_Mutation_p.V129I|CTSB_ENST00000434271.1_Missense_Mutation_p.V129I|CTSB_ENST00000533455.1_Missense_Mutation_p.V129I|CTSB_ENST00000345125.3_Missense_Mutation_p.V129I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	129					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TCCACGCTGACGTGCGCATTG	0.642																																						uc003wuq.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(385-387)Gtc>Atc		Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.							62	48	53					8																	11706616		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11706616C>T	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.385G>A	8.37:g.11706616C>T	ENSP00000345672:p.Val129Ile					CTSB_uc003wul.3_5'Flank|CTSB_uc010lsc.3_Intron|CTSB_uc011kxl.2_Missense_Mutation_p.V50I|CTSB_uc003wum.3_Missense_Mutation_p.V129I|CTSB_uc003wun.3_Missense_Mutation_p.V129I|CTSB_uc003wuo.3_Missense_Mutation_p.V129I|CTSB_uc003wup.3_Missense_Mutation_p.V129I|CTSB_uc003wuu.3_5'UTR	p.V129I	NM_001908	NP_680093	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	4	547	-	all_epithelial(15;0.205)		129					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.385G>A	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628265	0.46944	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.54	5.54	0.83059	Peptidase C1A, papain C-terminal (2);	0.164763	0.53938	D	0.000060	T	0.81992	0.4940	L	0.35288	1.05	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75616	-0.3256	10	0.23891	T	0.37	.	18.4664	0.90757	0.0:1.0:0.0:0.0	.	129	P07858	CATB_HUMAN	I	129;129;129;129;129;129;129;129;35;129;129;129;129;129;129;129	ENSP00000415889:V129I;ENSP00000345672:V129I;ENSP00000435105:V129I;ENSP00000433215:V129I;ENSP00000409917:V129I;ENSP00000342070:V129I;ENSP00000432244:V129I;ENSP00000434217:V129I;ENSP00000436159:V129I;ENSP00000433995:V129I;ENSP00000435074:V129I;ENSP00000436627:V129I;ENSP00000434725:V129I;ENSP00000436122:V129I;ENSP00000431518:V129I	ENSP00000342070:V129I	V	-	1	0	CTSB	11744025	0.977000	0.34250	0.077000	0.20336	0.903000	0.53119	2.023000	0.41040	2.598000	0.87819	0.462000	0.41574	GTC		0.642	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		T	11706616	C	T	11706616	3	4	243	1	0	0	0	0	1	0	0	0	4030	536	19	1	658	1	CTSB	8	11706616	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		11706616	134657406	40	17257											
FAM92A1	137392	broad.mit.edu	37	chr8	94713461	94713461	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttccctaggaacgctcaAacgaaacaactgcaaacagc	15	7	6	13	2	1	0	1	0	0	0	2	2	2	1	1	1	7	2	1	1	6	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:94713461A>G	ENST00000518322.1	+	2	177	c.36A>G	c.(34-36)caA>caG	p.Q12Q	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Silent_p.Q12Q|FAM92A1_ENST00000522324.1_Silent_p.Q12Q	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	12										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAACGCTCAAACGAAACAAC	0.453																																						uc022ayd.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(34-36)caA>caG		Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.							55	51	53					8																	94713461		1901	4129	6030	SO:0001819	synonymous_variant	137392							g.chr8:94713461A>G		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.36A>G	8.37:g.94713461A>G						LINC00535_uc022ayb.1_5'Flank|FAM92A1_uc003yfu.1_Non-coding_Transcript|FAM92A1_uc022ayc.1_Silent_p.Q12Q	p.Q12Q	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		1	139	+	Breast(36;2.4e-06)		12					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Silent	SNP	ENST00000518322.1	37	c.36A>G	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	A	9.587	1.125202	0.20959	.	.	ENSG00000188343	ENST00000523453	.	.	.	4.38	-2.1	0.07210	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56643	-0.7945	4	.	.	.	-3.3017	11.8862	0.52604	0.4124:0.0:0.5876:0.0	.	.	.	.	D	23	.	.	N	+	1	0	FAM92A1	94782637	1.000000	0.71417	0.994000	0.49952	0.856000	0.48823	1.319000	0.33655	-0.230000	0.09840	-0.250000	0.11733	AAC		0.453	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		G	94713461	A	G	94713461	2	3	243	1	0	0	0	0	0	0	0	1	5652	11	1	4		4	FAM92A1	8	94713461	Silent	SNP	A	TCGA-41-2572-01A-01D-1353-08	83006845	94713461	51650561	41	17258											
PIGO	84720	broad.mit.edu	37	chr9	35092240	35092240	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaggagtaacaggacGggcccagggatgggaaacag	15	2	16	8	1	0	0	0	0	0	0	0	4	0	4	1	5	4	2	1	5	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35092240G>T	ENST00000378617.3	-	7	2038	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P	PIGO_ENST00000341666.3_Silent_p.P548P|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	548					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAACAGGACGGGCCCAGGGA	0.577																																						uc003zwd.3																			0		p.G547E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1642-1644)ccC>ccA		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							54	59	57					9																	35092240		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092240G>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1644C>A	9.37:g.35092240G>T						PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Silent_p.P111P	p.P548P	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	2040	-			548					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.1644C>A	CCDS6575.1																																																																																				0.577	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		T	35092240	G	T	35092240	2	4	243	1	0	0	0	0	0	0	0	1	11894	1103	39	5		5	PIGO	9	35092240	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		35092240	106121191	42	17259											
RUSC2	9853	broad.mit.edu	37	chr9	35561054	35561054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccaaggagagcctgCaggagccacactccccagcc	11	2	11	17	0	0	2	0	0	0	2	1	4	1	3	6	2	5	1	6	2	1	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35561054C>G	ENST00000455600.1	+	11	4878	c.4309C>G	c.(4309-4311)Cag>Gag	p.Q1437E	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1437						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAGCCTGCAGGAGCCACA	0.657																																						uc003zww.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(4309-4311)Cag>Gag		Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.							25	32	30					9																	35561054		2203	4299	6502	SO:0001583	missense	9853					cytosol		g.chr9:35561054C>G	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4309C>G	9.37:g.35561054C>G	ENSP00000393922:p.Gln1437Glu					RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.Q1437E	p.Q1437E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4564	+			1437					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.4309C>G	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.343079	0.01277	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.16457	2.34;2.34	5.09	4.13	0.48395	Src homology-3 domain (1);	0.737178	0.13024	N	0.419831	T	0.08492	0.0211	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	10	0.12430	T	0.62	-4.7652	9.616	0.39692	0.1456:0.6729:0.1815:0.0	.	1437	Q8N2Y8	RUSC2_HUMAN	E	1437	ENSP00000355177:Q1437E;ENSP00000393922:Q1437E	ENSP00000355177:Q1437E	Q	+	1	0	RUSC2	35551054	0.022000	0.18835	0.732000	0.30844	0.029000	0.11900	2.798000	0.47884	2.527000	0.85204	0.650000	0.86243	CAG		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		G	35561054	C	G	35561054	3	3	243	1	0	0	0	0	1	0	0	0	13751	711	25	5	4347	5	RUSC2	9	35561054	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	468814	35561054	105652377	43	17260											
PHRF1	57661	broad.mit.edu	37	chr11	607162	607162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgccctccgggagccCggcccaaggcccgtcaggaa	8	3	13	17	3	1	0	1	0	0	0	2	2	2	2	5	4	3	1	5	4	2	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:607162C>A	ENST00000264555.5	+	14	1834	c.1706C>A	c.(1705-1707)cCg>cAg	p.P569Q	PHRF1_ENST00000416188.2_Missense_Mutation_p.P568Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.P567Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.P565Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	569					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGGGAGCCCGGCCCAAGGC	0.662																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1705-1707)cCg>cAg		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							29	31	30					11																	607162		1866	4098	5964	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607162C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1706C>A	11.37:g.607162C>A	ENSP00000264555:p.Pro569Gln					PHRF1_uc010qwc.2_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.2_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.2_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.2_Non-coding_Transcript	p.P569Q	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	1837	+			569					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1706C>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929578	0.34096	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.31	0.273	0.15650	.	0.613895	0.13607	N	0.375397	T	0.72431	0.3459	L	0.38175	1.15	0.09310	N	1	P;D;D;P	0.53151	0.929;0.958;0.958;0.929	P;P;P;P	0.52881	0.519;0.712;0.712;0.519	T	0.61753	-0.6998	10	0.25106	T	0.35	-0.2213	7.7998	0.29168	0.0:0.6981:0.0:0.3019	.	565;567;568;569	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	569;567;568;565	ENSP00000264555:P569Q;ENSP00000388589:P567Q;ENSP00000410626:P568Q;ENSP00000431870:P565Q	ENSP00000264555:P569Q	P	+	2	0	PHRF1	597162	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.007000	0.13174	-0.157000	0.11059	-0.369000	0.07265	CCG		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	607162	C	A	607162	3	1	243	1	0	0	0	0	1	0	0	0	11861	652	23	5	1753	5	PHRF1	11	607162	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		607162	134399354	44	17261											
SLC3A2	6520	broad.mit.edu	37	chr11	62623803	62623803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattccgcgccagttgcctgGctcacattcggaggctggtg	5	10	14	12	3	1	0	1	0	0	0	3	2	2	1	3	4	1	3	3	4	0	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:62623803G>T	ENST00000377890.2	+	1	230	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G21V|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G21V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G21V|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G21V|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384147.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	21					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.G21V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAGTTGCCTGGCTCACATTCG	0.647																																						uc001nwd.3																			1	Substitution - Missense(1)	p.G21V(2)	lung(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(61-63)gGc>gTc		Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.							101	83	89					11																	62623803		2201	4299	6500	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62623803G>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.62G>T	11.37:g.62623803G>T	ENSP00000367122:p.Gly21Val					SLC3A2_uc001nwc.3_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.3_Missense_Mutation_p.G21V|SNHG1_uc001nvr.3_5'Flank|SNHG1_uc001nvs.3_5'Flank|SNHG1_uc001nvt.3_5'Flank|SNHG1_uc001nvu.3_5'Flank|SNHG1_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNHG1_uc001nvx.2_5'Flank|SNORD22_uc021qkn.1_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNHG1_uc001nvz.2_5'Flank|SNHG1_uc009yok.1_5'Flank|SNHG1_uc001nwa.4_5'Flank	p.G21V	NM_002394	NP_001013269	P08195	4F2_HUMAN			0	320	+			21					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.62G>T	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132675	0.56828	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;T;D;D;D	0.99466	-5.7;1.95;-5.12;-5.95;-4.95	3.93	2.98	0.34508	.	.	.	.	.	D	0.98121	0.9380	M	0.66506	2.035	0.09310	N	1	B;B;B;B	0.33238	0.02;0.13;0.18;0.403	B;B;B;B	0.27715	0.031;0.051;0.037;0.082	D	0.96306	0.9225	9	0.37606	T	0.19	-0.8992	9.4727	0.38853	0.0:0.2166:0.7834:0.0	.	21;21;21;21	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	V	21	ENSP00000367124:G21V;ENSP00000367123:G21V;ENSP00000367122:G21V;ENSP00000367121:G21V;ENSP00000444236:G21V	ENSP00000367121:G21V	G	+	2	0	SLC3A2	62380379	0.001000	0.12720	0.016000	0.15963	0.018000	0.09664	0.580000	0.23803	0.931000	0.37242	0.313000	0.20887	GGC		0.647	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		T	62623803	G	T	62623803	3	4	243	1	0	0	0	0	1	0	0	0	14627	1203	42	5	64	5	SLC3A2	11	62623803	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	62016641	62623803	72382713	45	17262											
P2RY2	5029	broad.mit.edu	37	chr11	72945627	72945627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttacgacctctgcgctcCctgcgctggggccgggcccg	2	8	14	17	5	2	0	0	0	2	0	3	1	3	0	4	3	3	2	4	3	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:72945627C>T	ENST00000311131.2	+	3	890	c.423C>T	c.(421-423)tcC>tcT	p.S141S	P2RY2_ENST00000393597.2_Silent_p.S141S|P2RY2_ENST00000393596.2_Silent_p.S141S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	141					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCTGCGCTCCCTGCGCTGGG	0.662																																						uc021qna.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(421-423)tcC>tcT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)						60	58	59					11																	72945627		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945627C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.423C>T	11.37:g.72945627C>T						P2RY2_uc001otk.3_Silent_p.S141S|P2RY2_uc001otj.3_Silent_p.S141S|P2RY2_uc001otl.3_Silent_p.S141S	p.S141S	NM_176072	NP_788086	P41231	P2RY2_HUMAN			0	423	+			141					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.423C>T	CCDS8219.1																																																																																				0.662	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945627	C	T	72945627	2	4	243	1	0	0	0	0	0	0	0	1	11352	610	22	3		3	P2RY2	11	72945627	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	10321824	72945627	62060889	46	17263											
SNX19	399979	broad.mit.edu	37	chr11	130781567	130781567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctggtttctcctccagacGggtctgcagattcaagaact	9	12	9	11	1	4	3	1	0	3	3	6	3	5	3	2	2	2	2	2	2	2	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:130781567G>T	ENST00000265909.4	-	2	2343	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.R592S|SNX19_ENST00000545537.1_5'Flank|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.R35S|SNX19_ENST00000530356.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	592	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R592S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCCAGACGGGTCTGCAGA	0.557																																						uc001qgk.4																			1	Substitution - Missense(1)	p.R592S(2)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1774-1776)Cgt>Agt		Homo sapiens sorting nexin 19 (SNX19), mRNA.							116	111	113					11																	130781567		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130781567G>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1774C>A	11.37:g.130781567G>T	ENSP00000265909:p.Arg592Ser					SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.R35S|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_Non-coding_Transcript	p.R592S	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	2322	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	592			PX.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1774C>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165367	0.78339	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	T;T;T	0.39787	1.06;1.06;1.06	5.53	4.53	0.55603	Phox homologous domain (5);	0.054172	0.64402	D	0.000001	T	0.58148	0.2102	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	T	0.61686	-0.7012	10	0.87932	D	0	-14.3228	17.6759	0.88230	0.0:0.0:0.8374:0.1626	.	35;592;592	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	S	592;35;592	ENSP00000265909:R592S;ENSP00000443480:R35S;ENSP00000435390:R592S	ENSP00000265909:R592S	R	-	1	0	SNX19	130286777	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	4.728000	0.62000	2.607000	0.88179	0.655000	0.94253	CGT		0.557	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		T	130781567	G	T	130781567	3	4	243	1	0	0	0	0	1	0	0	0	14890	1116	39	5	1244	5	SNX19	11	130781567	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	57835940	130781567	4224949	47	17264											
WNT5B	81029	broad.mit.edu	37	chr12	1749108	1749108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcagggccgggtgcTcatgaacctgcaaaacaacg	13	4	14	10	2	1	2	1	1	0	1	1	3	1	3	2	3	6	3	2	3	4	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:1749108T>C	ENST00000397196.2	+	4	819	c.587T>C	c.(586-588)cTc>cCc	p.L196P	WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.L196P|WNT5B_ENST00000537031.1_Missense_Mutation_p.L196P	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	196					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCGGGTGCTCATGAACCTG	0.632																																						uc009zdq.3																			0				skin(1)	1						c.(586-588)cTc>cCc		Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.							30	36	34					12																	1749108		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1749108T>C	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.587T>C	12.37:g.1749108T>C	ENSP00000380379:p.Leu196Pro					WNT5B_uc001qjj.3_Missense_Mutation_p.L196P|WNT5B_uc001qjk.3_Missense_Mutation_p.L196P|WNT5B_uc001qjl.3_Missense_Mutation_p.L196P	p.L196P	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	829	+	Ovarian(42;0.107)		196					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.587T>C	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553520	0.45487	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.43	4.43	0.53597	.	0.062767	0.64402	D	0.000003	D	0.89026	0.6598	M	0.91140	3.18	0.80722	D	1	D	0.54601	0.967	D	0.65140	0.932	D	0.91024	0.4859	9	.	.	.	.	12.8549	0.57880	0.0:0.0:0.0:1.0	.	196	Q9H1J7	WNT5B_HUMAN	P	196	ENSP00000439312:L196P;ENSP00000308887:L196P;ENSP00000380379:L196P;ENSP00000442348:L196P	.	L	+	2	0	WNT5B	1619369	1.000000	0.71417	0.981000	0.43875	0.005000	0.04900	7.874000	0.87199	1.645000	0.50612	0.260000	0.18958	CTC		0.632	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			C	1749108	T	C	1749108	3	2	243	1	0	0	0	0	1	0	0	0	17389	1551	54	4	597	4	WNT5B	12	1749108	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08		1749108	132102787	48	17265											
FGD4	121512	broad.mit.edu	37	chr12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C																															tgtgctgtacatgtatggtgINSccccccaggtatctaaacca																										TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:32791721_32791722insC	ENST00000427716.2	+	16	2459_2460	c.2035_2036insC	c.(2035-2037)gccfs	p.A679fs	FGD4_ENST00000546442.1_Frame_Shift_Ins_p.A586fs|FGD4_ENST00000534526.2_Frame_Shift_Ins_p.A816fs|FGD4_ENST00000266482.3_Frame_Shift_Ins_p.A431fs|FGD4_ENST00000525053.1_Frame_Shift_Ins_p.A791fs|FGD4_ENST00000531134.1_Frame_Shift_Ins_p.A764fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505																																						uc010ske.2																			1	Substitution - Missense(1)	p.A679V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2371-2373)gccfs		Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.																																				SO:0001589	frameshift_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32791721_32791722insC	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2041dupC	12.37:g.32791727_32791727dupC	ENSP00000394487:p.Ala679fs					FGD4_uc001rlc.3_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.3_Frame_Shift_Ins_p.A431fs|FGD4_uc001rkz.3_Frame_Shift_Ins_p.A679fs|FGD4_uc001rla.3_Frame_Shift_Ins_p.A335fs|FGD4_uc001rlb.1_Non-coding_Transcript	p.A791fs	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			15	2455_2456	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		679					Q6ULS2|Q8TCP6	Frame_Shift_Ins	INS	ENST00000427716.2	37	c.2371_2372insC	CCDS8727.1																																																																																				0.505	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		C	32791722	-	C	32791721	7	5	243	1	0	1	1	0	0	0	0	0	5835	1319	46	0	2089	0	FGD4	12	32791721	Frame_Shift_Ins	INS	-	TCGA-41-2572-01A-01D-1353-08	31042613	32791721	101060174	49	17266											
OR8S1	341568	broad.mit.edu	37	chr12	48921845	48921845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccccaaggggcctgcGcatgctccgcgctgcgcgcg	5	5	13	18	6	1	0	1	0	0	0	2	0	2	0	4	2	4	3	4	2	2	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:48921845G>A	ENST00000310194.1	+	2	1039	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	347						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGGGCCTGCGCATGCTCCGC	0.662																																						uc010slu.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(1039-1041)Gca>Aca		Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.							12	15	14					12																	48921845		2193	4295	6488	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921845G>A		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1039G>A	12.37:g.48921845G>A	ENSP00000310632:p.Ala347Thr						p.A347T	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	1039	+			347						Missense_Mutation	SNP	ENST00000310194.1	37	c.1039G>A	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955182	0.34471	.	.	ENSG00000197376	ENST00000310194	T	0.03689	3.84	0.158	0.158	0.14942	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	P	0.45971	0.499	T	0.48570	-0.9024	8	0.59425	D	0.04	.	.	.	.	.	347	Q8NH09	OR8S1_HUMAN	T	347	ENSP00000310632:A347T	ENSP00000310632:A347T	A	+	1	0	OR8S1	47208112	0.246000	0.23909	0.047000	0.18901	0.048000	0.14542	-0.198000	0.09505	0.202000	0.20498	0.205000	0.17691	GCA		0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			A	48921845	G	A	48921845	3	1	243	1	0	0	0	0	1	0	0	0	11246	1087	38	1	1045	1	OR8S1	12	48921845	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	16130124	48921845	84930050	50	17267											
SCYL2	55681	broad.mit.edu	37	chr12	100717360	100717360	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagactacccatccatgAaaaacgctttgataccaaga	16	10	5	10	1	0	4	0	2	0	2	1	4	1	4	3	0	3	1	3	0	7	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:100717360A>C	ENST00000360820.2	+	11	1890	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	485					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCCATCCATGAAAAACGCTTT	0.318																																						uc001thn.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1453-1455)Aaa>Caa		Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.							88	86	86					12																	100717360		2203	4299	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100717360A>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1453A>C	12.37:g.100717360A>C	ENSP00000354061:p.Lys485Gln					SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	p.K485Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			10	1503	+			485					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1453A>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966695	0.92855	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.39406	1.49;1.08	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.62154	1.92	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.58679	-0.7594	10	0.40728	T	0.16	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	485	Q6P3W7	SCYL2_HUMAN	Q	485;312;485	ENSP00000448366:K485Q;ENSP00000354061:K485Q	ENSP00000258506:K312Q	K	+	1	0	SCYL2	99241491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.172000	0.94808	2.289000	0.77006	0.482000	0.46254	AAA		0.318	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		C	100717360	A	C	100717360	3	2	243	1	0	0	0	0	1	0	0	0	13948	247	9	5	1491	5	SCYL2	12	100717360	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	51795515	100717360	33134535	51	17268											
ANO4	121601	broad.mit.edu	37	chr12	101520784	101520784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaagcagaactggaacGtctccagaaggaacgaaagg	16	5	13	7	2	1	3	0	1	1	2	2	6	1	5	1	3	4	2	1	3	7	1	rs143188971	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:101520784G>A	ENST00000392977.3	+	27	3014	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	ANO4_ENST00000550015.1_Missense_Mutation_p.R455H|ANO4_ENST00000299222.9_Missense_Mutation_p.R455H|ANO4_ENST00000392979.3_Missense_Mutation_p.R900H			Q32M45	ANO4_HUMAN	anoctamin 4	935					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACTGGAACGTCTCCAGAAG	0.483										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2803-2805)cGt>cAt		Homo sapiens anoctamin 4 (ANO4), mRNA.		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	125	95	105		2699	4.7	1	12	dbSNP_134	105	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ANO4	NM_178826.3	29	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	benign	900/921	101520784	6,13000	2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520784G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2804G>A	12.37:g.101520784G>A	ENSP00000376703:p.Arg935His	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	p.R935H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			26	3376	+			935					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2804G>A		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408275	0.42715	6.81E-4	3.49E-4	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69926	-0.44;-0.31;-0.44;-0.31	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	N	0.03608	-0.345	0.51767	D	0.999932	B;B;B	0.19445	0.036;0.02;0.012	B;B;B	0.11329	0.006;0.005;0.006	T	0.30357	-0.9981	10	0.26408	T	0.33	.	14.7409	0.69455	0.0696:0.0:0.9304:0.0	.	455;935;900	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	900;455;935;455	ENSP00000376705:R900H;ENSP00000299222:R455H;ENSP00000376703:R935H;ENSP00000450192:R455H	ENSP00000299222:R455H	R	+	2	0	ANO4	100044915	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.821000	0.55700	1.488000	0.48433	-0.136000	0.14681	CGT		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		A	101520784	G	A	101520784	3	1	243	1	0	0	0	0	1	0	0	0	699	1145	40	1	2797	1	ANO4	12	101520784	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	803424	101520784	32331111	52	17269											
RYR3	6263	broad.mit.edu	37	chr15	33916210	33916210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctttcatcccatgccccGtagacaccagtcaggtaggt	8	10	8	15	1	3	1	2	0	1	1	4	1	4	1	5	2	1	2	5	2	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:33916210G>A	ENST00000389232.4	+	20	2630	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I	RYR3_ENST00000415757.3_Missense_Mutation_p.V854I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	854	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCATGCCCCGTAGACACCAG	0.433																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(2560-2562)Gta>Ata		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							143	135	138					15																	33916210		1845	4100	5945	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33916210G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2560G>A	15.37:g.33916210G>A	ENSP00000373884:p.Val854Ile					RYR3_uc010bar.3_Missense_Mutation_p.V854I	p.V854I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	19	2630	+		all_lung(180;7.18e-09)	854			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2560G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383053	0.25031	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90732	-2.72;-2.72	4.86	3.73	0.42828	Ryanodine receptor Ryr (1);	0.192825	0.45361	N	0.000380	T	0.78984	0.4370	N	0.19112	0.55	0.33454	D	0.584027	B;B	0.12013	0.003;0.005	B;B	0.11329	0.002;0.006	T	0.69610	-0.5099	10	0.05959	T	0.93	.	8.1452	0.31108	0.8424:0.0:0.1576:0.0	.	854;854	Q15413-2;Q15413	.;RYR3_HUMAN	I	854	ENSP00000373884:V854I;ENSP00000399610:V854I	ENSP00000354735:V854I	V	+	1	0	RYR3	31703502	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.395000	0.52558	0.866000	0.35629	-0.414000	0.06135	GTA		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33916210	G	A	33916210	3	1	243	1	0	0	0	0	1	0	0	0	13770	1145	40	1	2638	1	RYR3	15	33916210	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08		33916210	68615182	53	17270											
ACAN	176	broad.mit.edu	37	chr15	89389067	89389067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattcaccagtgaggacctCgtcgtgcaggtgaccgctgt	7	9	13	12	3	1	2	1	2	0	0	3	3	1	3	3	2	1	3	3	2	0	1	rs371505346		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:89389067C>T	ENST00000561243.1	+	6	1383	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	ACAN_ENST00000559004.1_Silent_p.L461L|ACAN_ENST00000439576.2_Silent_p.L461L|ACAN_ENST00000558207.1_Silent_p.L461L|ACAN_ENST00000352105.7_Silent_p.L461L			P16112	PGCA_HUMAN	aggrecan	461					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGAGGACCTCGTCGTGCAGG	0.652																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1381-1383)ctC>ctT		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.		C	,	0,4018		0,0,2009	12	14	13		1383,1383	-2.3	0.6	15		13	1,8309		0,1,4154	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	0,1,6163	TT,TC,CC		0.012,0.0,0.0081	,	461/2432,461/2531	89389067	1,12327	2009	4155	6164	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89389067C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1383C>T	15.37:g.89389067C>T						ACAN_uc002bmx.3_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_Non-coding_Transcript	p.L461L	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1757	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		461					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.1383C>T	CCDS53970.1																																																																																				0.652	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89389067	C	T	89389067	2	4	243	1	0	0	0	0	0	0	0	1	117	871	31	2		2	ACAN	15	89389067	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	55472857	89389067	13142325	54	17271											
MVP	9961	broad.mit.edu	37	chr16	29858658	29858658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagatgacagaggccatAggccccagcaccatcaggga	14	3	12	12	0	1	3	1	1	0	2	1	4	1	4	4	3	2	2	4	3	2	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:29858658A>G	ENST00000357402.5	+	14	2544	c.2406A>G	c.(2404-2406)atA>atG	p.I802M	MVP_ENST00000395353.1_Missense_Mutation_p.I802M	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	802					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGAGGCCATAGGCCCCAGCA	0.582																																						uc002dui.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(2404-2406)atA>atG		Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.							58	44	49					16																	29858658		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29858658A>G	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2406A>G	16.37:g.29858658A>G	ENSP00000349977:p.Ile802Met					BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.I802M|MVP_uc010vea.2_Missense_Mutation_p.I396M	p.I802M	NM_005115	NP_059447	Q14764	MVP_HUMAN			13	2558	+			802					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.2406A>G	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710253	0.48517	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35236	1.32;1.32	5.85	3.7	0.42460	.	0.153352	0.46758	D	0.000278	T	0.28928	0.0718	L	0.53671	1.685	0.80722	D	1	B	0.31611	0.331	B	0.29785	0.107	T	0.22800	-1.0206	10	0.72032	D	0.01	-21.5963	4.3056	0.10946	0.0844:0.1535:0.6035:0.1586	.	802	Q14764	MVP_HUMAN	M	802	ENSP00000349977:I802M;ENSP00000378760:I802M	ENSP00000349977:I802M	I	+	3	3	MVP	29766159	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.527000	0.22987	1.478000	0.48253	-0.177000	0.13119	ATA		0.582	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		G	29858658	A	G	29858658	3	3	243	1	0	0	0	0	1	0	0	0	9996	410	15	4	2456	4	MVP	16	29858658	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08		29858658	60496095	55	17272											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477041	67477041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatctcgatgttcatctcGtcaaggtcctgctctgaaat	9	14	8	10	2	5	2	2	2	3	0	8	3	6	2	1	1	1	2	1	1	2	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:67477041G>A	ENST00000290949.3	-	4	672	c.522C>T	c.(520-522)gaC>gaT	p.D174D	ATP6V0D1_ENST00000540149.1_Silent_p.D215D|ATP6V0D1_ENST00000602876.1_Silent_p.D97D|ATP6V0D1_ENST00000567694.1_5'Flank	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	174					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTTCATCTCGTCAAGGTCCT	0.567																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(643-645)gaC>gaT		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							163	148	153					16																	67477041		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67477041G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.522C>T	16.37:g.67477041G>A						ATP6V0D1_uc002ete.1_Silent_p.D174D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	p.D215D	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	4	745	-		Ovarian(137;0.0563)	174					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.645C>T	CCDS10838.1																																																																																				0.567	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		A	67477041	G	A	67477041	2	1	243	1	0	0	0	0	0	0	0	1	1173	1136	40	1		1	ATP6V0D1	16	67477041	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	37618383	67477041	22877712	56	17273											
HYDIN	54768	broad.mit.edu	37	chr16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgatgtagatatacgCggtggtgggcctccctttca	6	13	12	10	2	2	2	1	1	1	1	3	2	3	2	2	3	1	1	2	3	3	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3540					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(10615-10617)Gcg>Acg		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							60	56	57					16																	70908762		1869	4102	5971	SO:0001583	missense	54768							g.chr16:70908762C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10618G>A	16.37:g.70908762C>T	ENSP00000377197:p.Ala3540Thr						p.A3539T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			62	10766	-		Ovarian(137;0.0654)	3540					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10615G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	2.768	-0.256259	0.05829	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	4.66	0.836	0.18891	.	0.563128	0.13263	U	0.401146	T	0.00440	0.0014	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51028	-0.8757	10	0.17832	T	0.49	.	0.1104	0.00055	0.365:0.2089:0.1834:0.2427	.	3539	F8WD23	.	T	3540;3539	ENSP00000377197:A3540T	ENSP00000313052:A3539T	A	-	1	0	HYDIN	69466263	0.999000	0.42202	0.992000	0.48379	0.039000	0.13416	0.722000	0.25925	0.614000	0.30107	-0.463000	0.05309	GCG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70908762	C	T	70908762	3	4	243	1	0	0	0	0	1	0	0	0	7467	768	27	1	4843	1	HYDIN	16	70908762	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	3431721	70908762	19445991	57	17274											
RABEP1	9135	broad.mit.edu	37	chr17	5235422	5235422	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagtggagagaagaagtTgcttcacttcaggctgttat	12	11	12	6	0	2	3	2	0	0	3	2	5	2	4	0	2	1	4	0	2	3	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:5235422T>G	ENST00000546142.2	+	3	529	c.342T>G	c.(340-342)gtT>gtG	p.V114V	RABEP1_ENST00000262477.6_Silent_p.V114V|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000537505.1_Silent_p.V71V|RABEP1_ENST00000341923.6_Silent_p.V114V|RABEP1_ENST00000408982.2_Silent_p.V114V			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	114					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGAAGAAGTTGCTTCACTTC	0.378																																						uc002gbm.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(340-342)gtT>gtG		Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.							95	91	92					17																	5235422		1902	4118	6020	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5235422T>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.342T>G	17.37:g.5235422T>G						RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.4_Silent_p.V114V|RABEP1_uc002gbj.3_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	p.V114V	NM_004703	NP_004694	Q15276	RABE1_HUMAN			2	566	+			114					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.342T>G	CCDS45592.1																																																																																				0.378	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		G	5235422	T	G	5235422	2	3	243	1	0	0	0	0	0	0	0	1	12961	1799	63	5		5	RABEP1	17	5235422	Silent	SNP	T	TCGA-41-2572-01A-01D-1353-08		5235422	75959788	58	17275											
MYH4	4622	broad.mit.edu	37	chr17	10358985	10358985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctttcctgcagatgCggatgccttccagcacaccg	8	8	11	14	2	0	1	0	0	0	1	2	3	2	3	5	2	5	2	5	2	1	2	rs201207535		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10358985C>A	ENST00000255381.2	-	19	2230	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	707	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTGCAGATGCGGATGCCTTC	0.468																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2119-2121)cGc>cTc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							78	70	73					17																	10358985		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358985C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2120G>T	17.37:g.10358985C>A	ENSP00000255381:p.Arg707Leu					AK097500_uc002gml.1_Intron	p.R707L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			18	2231	-			707			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2120G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325929	0.81580	.	.	ENSG00000141048	ENST00000255381	T	0.77750	-1.12	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.33813	U	0.004529	D	0.86602	0.5972	H	0.96518	3.835	0.80722	D	1	P	0.38788	0.647	B	0.39738	0.308	D	0.90719	0.4633	10	0.87932	D	0	.	18.5313	0.90993	0.0:1.0:0.0:0.0	.	707	Q9Y623	MYH4_HUMAN	L	707	ENSP00000255381:R707L	ENSP00000255381:R707L	R	-	2	0	MYH4	10299710	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.957000	0.70323	2.445000	0.82738	0.305000	0.20034	CGC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10358985	C	A	10358985	3	1	243	1	0	0	0	0	1	0	0	0	10037	768	27	5	3787	5	MYH4	17	10358985	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	5123563	10358985	70836225	59	17276											
MYH1	4619	broad.mit.edu	37	chr17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcacatggcctgggttCgggtaatcagctgggccagc	6	9	14	12	1	2	0	1	0	1	0	3	0	2	0	2	4	3	4	2	4	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2371-2373)cGa>cAa		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							78	80	80					17																	10408543		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408543C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2372G>A	17.37:g.10408543C>T	ENSP00000226207:p.Arg791Gln					AK097500_uc002gml.1_Intron	p.R791Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			20	2466	-			791			IQ.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2372G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794663	0.50102	.	.	ENSG00000109061	ENST00000226207	T	0.71817	-0.6	5.47	5.47	0.80525	.	0.000000	0.38778	U	0.001569	T	0.64616	0.2614	L	0.40543	1.245	0.40256	D	0.978127	B	0.16166	0.016	B	0.06405	0.002	T	0.58393	-0.7644	10	0.27082	T	0.32	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	791	P12882	MYH1_HUMAN	Q	791	ENSP00000226207:R791Q	ENSP00000226207:R791Q	R	-	2	0	MYH1	10349268	0.000000	0.05858	0.999000	0.59377	0.926000	0.56050	0.400000	0.20932	2.745000	0.94114	0.650000	0.86243	CGA		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10408543	C	T	10408543	3	4	243	1	0	0	0	0	1	0	0	0	10029	884	31	2	3527	2	MYH1	17	10408543	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	49558	10408543	70786667	60	17277											
USP22	23326	broad.mit.edu	37	chr17	20931977	20931977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccacagacatggcagataCaggacttggcctgaaattca	13	7	10	11	1	1	3	1	1	0	2	1	4	1	4	2	3	1	1	2	3	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:20931977C>T	ENST00000261497.4	-	2	385	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	USP22_ENST00000537526.2_Missense_Mutation_p.C49Y|USP22_ENST00000455117.2_5'UTR	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	61					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ATGGCAGATACAGGACTTGGC	0.517																																						uc002gym.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(181-183)tGt>tAt		Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.							51	54	53					17																	20931977		2059	4207	6266	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20931977C>T	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.182G>A	17.37:g.20931977C>T	ENSP00000261497:p.Cys61Tyr					USP22_uc002gyn.4_Missense_Mutation_p.C49Y|USP22_uc002gyl.4_5'UTR	p.C61Y	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			1	386	-			61					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.182G>A	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217527	0.58560	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09350	2.99;3.03	4.96	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (1);	0.119193	0.56097	D	0.000024	T	0.18759	0.0450	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.73708	0.981;0.781	T	0.01679	-1.1297	10	0.02654	T	1	.	18.2106	0.89868	0.0:1.0:0.0:0.0	.	49;61	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	Y	129;49;61	ENSP00000440950:C49Y;ENSP00000261497:C61Y	ENSP00000261497:C61Y	C	-	2	0	USP22	20872569	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.881000	0.75584	2.281000	0.76405	0.655000	0.94253	TGT		0.517	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			T	20931977	C	T	20931977	3	4	243	1	0	0	0	0	1	0	0	0	17051	478	17	3	1443	3	USP22	17	20931977	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	10523434	20931977	60263233	61	17278											
C17orf70	80233	broad.mit.edu	37	chr17	79517665	79517665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctctgtcttcaaggccccTatgaagatgacgggctcctc	7	10	11	13	1	3	3	1	2	2	1	5	3	4	3	3	3	0	2	3	3	3	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:79517665T>C	ENST00000327787.8	-	3	901	c.855A>G	c.(853-855)atA>atG	p.I285M	C17orf70_ENST00000537152.1_Missense_Mutation_p.I134M|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	285					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCAAGGCCCCTATGAAGATGA	0.577																																						uc002kaq.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(853-855)atA>atG		Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.							60	60	60					17																	79517665		2203	4300	6503	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517665T>C	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.855A>G	17.37:g.79517665T>C	ENSP00000333283:p.Ile285Met					C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.I134M	p.I285M	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		2	928	-	all_neural(118;0.0878)|Melanoma(429;0.242)		285					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.855A>G	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155081	0.38021	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.42900	0.97;0.96	4.2	-7.66	0.01277	.	0.332246	0.28560	N	0.014918	T	0.23886	0.0578	M	0.69823	2.125	0.34842	D	0.740752	P	0.40909	0.732	B	0.31337	0.128	T	0.19224	-1.0312	10	0.87932	D	0	.	0.1404	0.00082	0.3206:0.1936:0.2396:0.2462	.	285	Q0VG06	FP100_HUMAN	M	285;134;134;134	ENSP00000333283:I285M;ENSP00000440151:I134M	ENSP00000333283:I285M	I	-	3	3	C17orf70	77128107	0.001000	0.12720	0.729000	0.30791	0.757000	0.42996	-2.023000	0.01438	-1.957000	0.01021	0.460000	0.39030	ATA		0.577	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		C	79517665	T	C	79517665	3	2	243	1	0	0	0	0	1	0	0	0	1877	1512	53	4	1818	4	C17orf70	17	79517665	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	58585688	79517665	1677545	62	17279											
LAMA1	284217	broad.mit.edu	37	chr18	7034562	7034562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtcatcagctggtcaCgatcaatctgccttttgctg	8	12	10	11	1	5	0	4	0	1	0	5	2	5	1	1	2	3	2	1	2	1	2	rs556604476		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:7034562C>T	ENST00000389658.3	-	14	2060	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	656	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R656H(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGCTGGTCACGATCAATCTG	0.423													C|||	1	0.000199681	0	0	5008	,	,		15965	0		0	False		,,,				2504	0.001					uc002knm.3																			1	Substitution - Missense(1)	p.R656H(2)	endometrium(1)	NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1966-1968)cGt>cAt		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						158	144	149					18																	7034562		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034562C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1967G>A	18.37:g.7034562C>T	ENSP00000374309:p.Arg656His					LAMA1_uc010wzj.2_Missense_Mutation_p.R132H	p.R656H	NM_005559	NP_005550	P25391	LAMA1_HUMAN			13	2061	-		Colorectal(10;0.172)	656			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1967G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138488	0.77775	.	.	ENSG00000101680	ENST00000389658	T	0.39406	1.08	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.062472	0.64402	D	0.000003	T	0.73164	0.3552	M	0.89534	3.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76173	-0.3056	10	0.54805	T	0.06	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	656	P25391	LAMA1_HUMAN	H	656	ENSP00000374309:R656H	ENSP00000374309:R656H	R	-	2	0	LAMA1	7024562	1.000000	0.71417	0.993000	0.49108	0.242000	0.25591	6.861000	0.75478	2.797000	0.96272	0.655000	0.94253	CGT		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7034562	C	T	7034562	3	4	243	1	0	0	0	0	1	0	0	0	8605	536	19	1	7460	1	LAMA1	18	7034562	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		7034562	71042686	63	17280											
SERPINB7	8710	broad.mit.edu	37	chr18	61465969	61465969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccataaattgccatttcAaatctcccaaggtatgtcgt	14	12	5	10	1	2	0	1	0	1	0	4	0	2	0	3	1	2	1	3	1	6	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:61465969A>G	ENST00000398019.2	+	6	911	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	SERPINB7_ENST00000540675.1_Missense_Mutation_p.K179E|SERPINB7_ENST00000546027.1_Missense_Mutation_p.K196E|SERPINB7_ENST00000336429.2_Missense_Mutation_p.K196E	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	196					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCCATTTCAAATCTCCCAA	0.403																																						uc002ljl.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(586-588)Aaa>Gaa		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.							151	137	142					18																	61465969		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61465969A>G	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.586A>G	18.37:g.61465969A>G	ENSP00000381101:p.Lys196Glu					SERPINB7_uc002ljm.3_Missense_Mutation_p.K196E|SERPINB7_uc010xet.2_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.3_Missense_Mutation_p.K196E	p.K196E	NM_001040147	NP_003775	O75635	SPB7_HUMAN			5	682	+		Esophageal squamous(42;0.129)	196					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.586A>G	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301769	0.40694	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.68	3.2	0.36748	Serpin domain (3);	1.003840	0.08018	N	0.991539	T	0.16685	0.0401	M	0.75264	2.295	0.23445	N	0.997667	B;B	0.27910	0.161;0.193	B;B	0.31442	0.079;0.13	T	0.30765	-0.9967	10	0.41790	T	0.15	.	7.5837	0.27980	0.5889:0.278:0.0:0.1331	.	179;196	F5GZC0;O75635	.;SPB7_HUMAN	E	196;196;179;196	ENSP00000337212:K196E;ENSP00000381101:K196E;ENSP00000444572:K179E;ENSP00000444861:K196E	ENSP00000337212:K196E	K	+	1	0	SERPINB7	59616949	0.004000	0.15560	0.149000	0.22428	0.117000	0.20001	0.887000	0.28254	0.470000	0.27294	0.528000	0.53228	AAA		0.403	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		G	61465969	A	G	61465969	3	3	243	1	0	0	0	0	1	0	0	0	14106	131	5	4	604	4	SERPINB7	18	61465969	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	54431407	61465969	16611279	64	17281											
PALM	5064	broad.mit.edu	37	chr19	746493	746493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcaggcacagccaggCgaggccacgtccggcccgcc	6	3	16	16	4	0	0	0	0	0	0	1	1	1	0	5	5	2	2	5	5	0	0	rs199542927		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:746493C>T	ENST00000338448.5	+	9	889	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Silent_p.G237G	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	281					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CACAGCCAGGCGAGGCCACGT	0.726													C|||	1	0.000199681	0	0	5008	,	,		11154	0.001		0	False		,,,				2504	0					uc002lpm.1																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(841-843)ggC>ggT		Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.							17	18	18					19																	746493		2192	4286	6478	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746493C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.843C>T	19.37:g.746493C>T						PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	p.G281G	NM_002579	NP_002570	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1037	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	281					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.843C>T	CCDS32857.1																																																																																				0.726	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		T	746493	C	T	746493	2	4	243	1	0	0	0	0	0	0	0	1	11408	755	27	1		1	PALM	19	746493	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		746493	58382490	65	17282											
CD97	976	broad.mit.edu	37	chr19	14513618	14513618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactcccccatccttttcGccttctcccaccttgagtcc	5	13	3	20	1	2	1	1	1	1	0	7	1	5	1	7	0	1	0	7	0	1	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:14513618G>A	ENST00000242786.5	+	12	1473	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	CD97_ENST00000357355.3_Missense_Mutation_p.A416T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.A372T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	465					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCTTTTCGCCTTCTCCCA	0.567																																						uc002myl.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1393-1395)Gcc>Acc		Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.							189	158	168					19																	14513618		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14513618G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1393G>A	19.37:g.14513618G>A	ENSP00000242786:p.Ala465Thr					CD97_uc002mym.3_Missense_Mutation_p.A416T|CD97_uc002myn.3_Missense_Mutation_p.A372T	p.A465T	NM_078481	NP_510966	P48960	CD97_HUMAN			11	1773	+			465					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1393G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	3.197	-0.164512	0.06502	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.71579	-0.58;-0.49;-0.11	5.12	-5.04	0.02964	.	.	.	.	.	T	0.45296	0.1335	N	0.08118	0	0.09310	N	1	P;P;B	0.51147	0.901;0.942;0.092	B;P;B	0.50490	0.407;0.642;0.026	T	0.46148	-0.9212	9	0.02654	T	1	.	4.2149	0.10530	0.4374:0.0:0.3131:0.2495	.	372;416;465	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	T	465;416;372;415	ENSP00000242786:A465T;ENSP00000349918:A416T;ENSP00000351413:A372T	ENSP00000242786:A465T	A	+	1	0	CD97	14374618	0.360000	0.24964	0.056000	0.19401	0.249000	0.25844	0.499000	0.22546	-0.868000	0.04058	0.455000	0.32223	GCC		0.567	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		A	14513618	G	A	14513618	3	1	243	1	0	0	0	0	1	0	0	0	3049	1087	38	1	1439	1	CD97	19	14513618	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13767125	14513618	44615365	66	17283											
FAM32A	26017	broad.mit.edu	37	chr19	16301334	16301334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcttctctctccagcaaAtggaaaggatcctaaagaag	13	10	8	10	0	3	1	0	0	3	1	7	3	4	3	2	2	1	1	2	2	5	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:16301334A>G	ENST00000263384.7	+	3	245	c.220A>G	c.(220-222)Atg>Gtg	p.M74V	CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000589852.1_Missense_Mutation_p.M54V|FAM32A_ENST00000588367.1_Intron	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	74	Lys-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						TCTCCAGCAAATGGAAAGGAT	0.562																																						uc002ndt.3																			0				lung(1)	1						c.(220-222)Atg>Gtg		Homo sapiens family with sequence similarity 32, member A (FAM32A), mRNA.							28	25	26					19																	16301334		2203	4300	6503	SO:0001583	missense	26017					nucleolus		g.chr19:16301334A>G	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.220A>G	19.37:g.16301334A>G	ENSP00000263384:p.Met74Val						p.M74V	NM_014077	NP_054796	Q9Y421	FA32A_HUMAN			2	239	+			74			Lys-rich.		Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	c.220A>G	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999689	0.19121	.	.	ENSG00000105058	ENST00000263384	.	.	.	4.41	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13150	-1.0520	9	0.12766	T	0.61	-29.165	7.9009	0.29734	0.9043:0.0:0.0957:0.0	.	74	Q9Y421	FA32A_HUMAN	V	74	.	ENSP00000263384:M74V	M	+	1	0	FAM32A	16162334	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.677000	0.74503	0.656000	0.30886	0.460000	0.39030	ATG		0.562	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460346.1	NM_014077		G	16301334	A	G	16301334	3	3	243	1	0	0	0	0	1	0	0	0	5552	101	4	4	230	4	FAM32A	19	16301334	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	1787716	16301334	42827649	67	17284											
CD22	933	broad.mit.edu	37	chr19	35832290	35832290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaaatcaagcccctttccGagattcactctggaaactcg	12	9	8	12	2	3	1	2	0	1	1	5	4	4	3	3	2	2	0	3	2	4	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:35832290G>A	ENST00000085219.5	+	8	1618	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CD22_ENST00000594250.1_Missense_Mutation_p.E341K|CD22_ENST00000536635.2_Missense_Mutation_p.E430K|CD22_ENST00000341773.6_Missense_Mutation_p.E341K|CD22_ENST00000544992.2_Missense_Mutation_p.E518K|CD22_ENST00000270311.6_Missense_Mutation_p.E398K|CD22_ENST00000419549.2_Missense_Mutation_p.E346K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	518	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCCTTTCCGAGATTCACTC	0.572																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1552-1554)Gag>Aag		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						38	38	38					19																	35832290		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35832290G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1552G>A	19.37:g.35832290G>A	ENSP00000085219:p.Glu518Lys					CD22_uc010edu.3_Missense_Mutation_p.E430K|CD22_uc010edv.3_Missense_Mutation_p.E518K|CD22_uc002nzb.4_Missense_Mutation_p.E341K|CD22_uc010xst.2_Missense_Mutation_p.E346K|CD22_uc010edx.3_Non-coding_Transcript	p.E518K	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1636	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		518			Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1552G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416580	0.83449	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.37	5.37	0.77165	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111193	0.40728	N	0.001036	T	0.26738	0.0654	L	0.45352	1.415	0.25941	N	0.982873	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;P;D	0.76575	0.964;0.988;0.936;0.829;0.943	T	0.12656	-1.0539	10	0.15066	T	0.55	.	14.605	0.68472	0.0:0.0:1.0:0.0	.	346;518;430;518;341	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	K	518;430;341;518;398;346	ENSP00000085219:E518K;ENSP00000442279:E430K;ENSP00000339349:E341K;ENSP00000441237:E518K;ENSP00000270311:E398K;ENSP00000403822:E346K	ENSP00000085219:E518K	E	+	1	0	CD22	40524130	0.993000	0.37304	0.868000	0.34077	0.008000	0.06430	3.253000	0.51469	2.510000	0.84645	0.561000	0.74099	GAG		0.572	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		A	35832290	G	A	35832290	3	1	243	1	0	0	0	0	1	0	0	0	2985	1059	37	2	1578	2	CD22	19	35832290	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	19530956	35832290	23296693	68	17285											
HKR1	284459	broad.mit.edu	37	chr19	37853831	37853831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcattacccaccagagggcGcacactggggagaagcctta	11	6	11	13	1	1	2	1	0	0	2	1	3	1	2	3	3	2	1	3	3	3	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:37853831G>A	ENST00000324411.4	+	6	1403	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	HKR1_ENST00000544914.1_Silent_p.A105A|HKR1_ENST00000589392.1_Silent_p.A360A|HKR1_ENST00000392153.3_Silent_p.A359A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.A317A|HKR1_ENST00000591471.1_Silent_p.A105A	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	378					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGGGCGCACACTGGGG	0.532																																						uc002ogb.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1132-1134)gcG>gcA		Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.							90	80	84					19																	37853831		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853831G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1134G>A	19.37:g.37853831G>A						HKR1_uc002ofx.3_Silent_p.A94A|HKR1_uc002ofy.3_Silent_p.A94A|HKR1_uc002oga.3_Silent_p.A360A|HKR1_uc010xto.2_Silent_p.A360A|HKR1_uc002ogc.3_Silent_p.A359A|HKR1_uc010xtp.2_Silent_p.A317A|HKR1_uc002ogd.3_Silent_p.A317A	p.A378A	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1403	+			378					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.1134G>A	CCDS12502.1																																																																																				0.532	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		A	37853831	G	A	37853831	2	1	243	1	0	0	0	0	0	0	0	1	7194	1074	38	1		1	HKR1	19	37853831	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	2021541	37853831	21275152	69	17286											
ACPT	93650	broad.mit.edu	37	chr19	51295361	51295361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccatgcgcagctgtccccGataccacgagctgctgcggg	6	6	12	17	4	0	0	0	0	0	0	1	2	1	0	5	1	6	4	5	1	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:51295361G>A	ENST00000270593.1	+	5	482	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	161						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTGTCCCCGATACCACGAG	0.692																																						uc002pta.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(481-483)cGa>cAa		Homo sapiens acid phosphatase, testicular (ACPT), mRNA.							27	23	24					19																	51295361		2196	4293	6489	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295361G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.482G>A	19.37:g.51295361G>A	ENSP00000270593:p.Arg161Gln						p.R161Q	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	482	+		all_neural(266;0.057)	161					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.482G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134676	0.56828	.	.	ENSG00000142513	ENST00000270593	T	0.27557	1.66	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000003	T	0.52240	0.1722	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.56535	-0.7963	10	0.72032	D	0.01	-24.8237	12.8365	0.57775	0.0:0.0:1.0:0.0	.	161	Q9BZG2	PPAT_HUMAN	Q	161	ENSP00000270593:R161Q	ENSP00000270593:R161Q	R	+	2	0	ACPT	55987173	0.945000	0.32115	0.204000	0.23530	0.052000	0.14988	4.138000	0.58017	2.178000	0.69098	0.455000	0.32223	CGA		0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		A	51295361	G	A	51295361	3	1	243	1	0	0	0	0	1	0	0	0	168	1058	37	2	500	2	ACPT	19	51295361	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13441530	51295361	7833622	70	17287											
HSPBP1	23640	broad.mit.edu	37	chr19	55776732	55776732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcccgacactcgcgcaCaccctgcggaaagtctgtca	8	6	10	17	5	2	0	1	0	1	0	4	2	3	1	2	2	1	2	2	2	1	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55776732C>T	ENST00000255631.5	-	8	1229	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	HSPBP1_ENST00000376343.3_Missense_Mutation_p.V205M|HSPBP1_ENST00000587922.1_Missense_Mutation_p.V307M|HSPBP1_ENST00000433386.2_Missense_Mutation_p.V307M	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	310					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCGCGCACACCCTGCGGA	0.657																																						uc002qkd.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(919-921)Gtg>Atg		Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.							67	64	65					19																	55776732		2203	4300	6503	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55776732C>T		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.919G>A	19.37:g.55776732C>T	ENSP00000255631:p.Val307Met					HSPBP1_uc002qjx.3_Missense_Mutation_p.V353M|HSPBP1_uc002qkc.3_Missense_Mutation_p.V307M|X05128_uc002qke.3_5'Flank	p.V307M	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1253	-			310					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.919G>A	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.718654	0.30503	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.59502	0.63;0.63;0.26	4.23	3.16	0.36331	Armadillo-like helical (1);Armadillo-type fold (1);	0.320352	0.29473	N	0.012060	T	0.47060	0.1425	L	0.41824	1.3	0.51482	D	0.999924	B;B	0.19706	0.012;0.038	B;B	0.17979	0.014;0.02	T	0.50491	-0.8822	10	0.48119	T	0.1	.	12.0153	0.53311	0.0:0.9046:0.0:0.0954	.	310;353	Q9NZL4;B4DG11	HPBP1_HUMAN;.	M	307;307;205	ENSP00000398244:V307M;ENSP00000255631:V307M;ENSP00000365521:V205M	ENSP00000255631:V307M	V	-	1	0	HSPBP1	60468544	0.697000	0.27767	0.996000	0.52242	0.573000	0.36030	1.185000	0.32065	2.091000	0.63221	0.379000	0.24179	GTG		0.657	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		T	55776732	C	T	55776732	3	4	243	1	0	0	0	0	1	0	0	0	7426	478	17	3	168	3	HSPBP1	19	55776732	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	4481371	55776732	3352251	71	17288											
HSPBP1	23640	broad.mit.edu	37	chr19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggctgtgctctgtcCgcaccagggccaccagctgc	6	6	15	14	1	1	0	0	0	1	0	2	1	2	1	4	4	3	4	4	4	1	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687																																						uc002qkd.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(844-846)cGg>cAg		Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.							18	19	19					19																	55777302		2201	4298	6499	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55777302C>T		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.845G>A	19.37:g.55777302C>T	ENSP00000255631:p.Arg282Gln					HSPBP1_uc002qjx.3_Missense_Mutation_p.R328Q|HSPBP1_uc002qkc.3_Missense_Mutation_p.R282Q|X05128_uc002qke.3_5'Flank	p.R282Q	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1179	-			285					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.845G>A	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	HSPBP1	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG		0.687	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		T	55777302	C	T	55777302	3	4	243	1	0	0	0	0	1	0	0	0	7426	652	23	2	246	2	HSPBP1	19	55777302	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	570	55777302	3351681	72	17289											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564905	58564905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggactgtgatctcgagccCcaagggtccaagtgctcaga	10	7	13	11	1	2	2	1	1	1	1	4	4	3	3	3	2	2	1	3	2	2	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:58564905C>T	ENST00000282326.1	+	6	960	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	238					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCA	0.617																																						uc002qrc.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(712-714)cCc>cTc		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.							51	54	53					19																	58564905		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564905C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.713C>T	19.37:g.58564905C>T	ENSP00000282326:p.Pro238Leu						p.P238L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	960	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	238					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.713C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.432558	0.01108	.	.	ENSG00000152467	ENST00000282326	T	0.05199	3.48	0.88	-0.3	0.12804	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46205	-0.9208	9	0.25106	T	0.35	.	8.0551	0.30600	0.0:0.813:0.0:0.187	.	238	Q8NBB4	ZSCA1_HUMAN	L	238	ENSP00000282326:P238L	ENSP00000282326:P238L	P	+	2	0	ZSCAN1	63256717	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.825000	0.01707	-0.664000	0.05324	-1.786000	0.00637	CCC		0.617	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58564905	C	T	58564905	3	4	243	1	0	0	0	0	1	0	0	0	18223	623	22	3	727	3	ZSCAN1	19	58564905	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	2787603	58564905	564078	73	17290											
MYBL2	4605	broad.mit.edu	37	chr20	42331498	42331498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctgtaacagcctcacGcccaagagcacacctgttaa	12	8	7	14	1	1	1	1	0	0	1	2	2	2	1	4	0	3	3	4	0	3	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr20:42331498G>A	ENST00000217026.4	+	8	1447	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	MYBL2_ENST00000396863.4_Silent_p.T416T	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	440					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCCTCACGCCCAAGAGCA	0.582																																						uc002xlb.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1318-1320)acG>acA		Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.							134	108	117					20																	42331498		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331498G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1320G>A	20.37:g.42331498G>A						MYBL2_uc010zwj.1_Silent_p.T416T	p.T440T	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	1535	+		Myeloproliferative disorder(115;0.00452)	440					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.1320G>A	CCDS13322.1																																																																																				0.582	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		A	42331498	G	A	42331498	2	1	243	1	0	0	0	0	0	0	0	1	10010	1074	38	1		1	MYBL2	20	42331498	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		42331498	20694022	74	17291											
CCT8L2	150160	broad.mit.edu	37	chr22	17072504	17072504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctagcttgaatcaccaCgatgccatacttgtccgcca	11	9	7	14	2	1	2	1	1	0	1	2	3	2	2	5	0	3	1	5	0	3	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:17072504C>T	ENST00000359963.3	-	1	1196	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	313					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.V313M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557																																						uc002zlp.1																			1	Substitution - Missense(1)	p.V313M(2)	large_intestine(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(937-939)Gtg>Atg		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.							197	174	182					22																	17072504		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072504C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.937G>A	22.37:g.17072504C>T	ENSP00000353048:p.Val313Met						p.V313M	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	1197	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	313					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.937G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.124215	0.00031	.	.	ENSG00000198445	ENST00000359963	T	0.74421	-0.84	1.98	0.869	0.19096	.	0.138719	0.32719	N	0.005730	T	0.26738	0.0654	N	0.00121	-2.07	0.21256	N	0.999747	B	0.17667	0.023	B	0.06405	0.002	T	0.42515	-0.9447	10	0.15499	T	0.54	-26.8196	3.695	0.08361	0.0:0.2182:0.0:0.7818	.	313	Q96SF2	TCPQM_HUMAN	M	313	ENSP00000353048:V313M	ENSP00000353048:V313M	V	-	1	0	CCT8L2	15452504	0.985000	0.35326	0.959000	0.39883	0.033000	0.12548	0.049000	0.14099	0.063000	0.16370	-0.552000	0.04208	GTG		0.557	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072504	C	T	17072504	3	4	243	1	0	0	0	0	1	0	0	0	2961	536	19	1	740	1	CCT8L2	22	17072504	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		17072504	34232062	75	17292											
P2RY8	286530	broad.mit.edu	37	chrX	1584669	1584669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtagaacaggcggctcacGatgtgcgccaggagcacgaa	11	4	14	12	5	1	1	1	0	0	1	1	4	1	2	2	3	3	3	2	3	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:1584669G>A	ENST00000381297.4	-	2	993	c.783C>T	c.(781-783)atC>atT	p.I261I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I261I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	"B-ALL, Downs associated ALL"																																	uc022brv.1				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		1	Substitution - coding silent(1)	p.I261I(2)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(781-783)atC>atT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							79	75	77					X																	1584669		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584669G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.783C>T	X.37:g.1584669G>A						CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I261I	p.I261I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	783	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	261						Silent	SNP	ENST00000381297.4	37	c.783C>T	CCDS14115.1																																																																																				0.612	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		A	1584669	G	A	1584669	2	1	243	1	0	0	0	0	0	0	0	1	11355	1048	37	2		2	P2RY8	23	1584669	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		1584669	153685891	76	17293											
GSPT2	23708	broad.mit.edu	37	chrX	51487887	51487887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaggacattcactttatgCcctgctcaggactgaccgga	12	9	9	11	1	2	1	2	1	0	0	2	4	2	4	2	3	2	1	2	3	3	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:51487887C>T	ENST00000340438.4	+	1	1407	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	389	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TCACTTTATGCCCTGCTCAGG	0.393																																						uc004dpl.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1165-1167)Ccc>Tcc		Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.							55	52	53					X																	51487887		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487887C>T	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1165C>T	X.37:g.51487887C>T	ENSP00000341247:p.Pro389Ser						p.P389S	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			0	1407	+	Ovarian(276;0.236)		389					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1165C>T	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306782	0.60305	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.50001	0.76	4.54	4.54	0.55810	Protein synthesis factor, GTP-binding (1);	0.054775	0.85682	D	0.000000	T	0.73361	0.3577	H	0.96633	3.855	0.80722	D	1	D	0.53462	0.96	P	0.54924	0.764	T	0.83156	-0.0101	10	0.87932	D	0	-25.406	14.1788	0.65559	0.0:1.0:0.0:0.0	.	389	Q8IYD1	ERF3B_HUMAN	S	389;306	ENSP00000341247:P389S	ENSP00000341247:P389S	P	+	1	0	GSPT2	51504627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	2.521000	0.84997	0.592000	0.82586	CCC		0.393	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			T	51487887	C	T	51487887	3	4	243	1	0	0	0	0	1	0	0	0	6827	739	26	3	1167	3	GSPT2	23	51487887	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	49903218	51487887	103782673	77	17294											
PFKFB1	5207	broad.mit.edu	37	chrX	54986328	54986328	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccagggcgcactgccTgaaatagaccaggaaagaaa	14	4	13	10	1	0	3	0	1	0	2	0	4	0	4	3	3	2	2	3	3	4	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:54986328T>C	ENST00000375006.3	-	4	388		c.e4-2		PFKFB1_ENST00000374992.2_Splice_Site|PFKFB1_ENST00000545676.1_Splice_Site	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCGCACTGCCTGAAATAGACC	0.443																																						uc004dty.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.e4-1		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.							39	36	37					X																	54986328		2203	4300	6503	SO:0001630	splice_region_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54986328T>C		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.318-2A>G	X.37:g.54986328T>C						PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	p.K106_splice	NM_002625	NP_002616	P16118	F261_HUMAN			4	389	-			106			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Splice_Site	SNP	ENST00000375006.3	37	c.318_splice	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635802	0.29068	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9354	0.58311	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PFKFB1	55003053	1.000000	0.71417	0.968000	0.41197	0.030000	0.12068	7.800000	0.85949	1.762000	0.52044	0.486000	0.48141	.		0.443	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Intron	C	54986328	T	C	54986328	5	2	243	1	0	0	0	0	0	0	1	0	11760	1594	55	4	1143	4	PFKFB1	23	54986328	Splice_Site	SNP	T	TCGA-41-2572-01A-01D-1353-08	3498441	54986328	100284232	78	17295											
IL13RA2	3598	broad.mit.edu	37	chrX	114248418	114248418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattgccaattgtaatatacGcaatccatatcctgaacttt	13	15	4	9	1	0	1	0	1	0	0	2	1	2	1	3	0	3	2	3	0	8	8	rs199528071		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:114248418G>A	ENST00000371936.1	-	6	684	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IL13RA2_ENST00000468224.1_5'Flank|IL13RA2_ENST00000243213.1_Silent_p.C145C			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	145	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTAATATACGCAATCCATAT	0.328													G|||	1	0.000264901	0	0.0014	3775	,	,		12886	0		0	False		,,,				2504	0					uc004epx.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(433-435)tgC>tgT		Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.							81	74	76					X																	114248418		2203	4299	6502	SO:0001819	synonymous_variant	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114248418G>A	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.435C>T	X.37:g.114248418G>A						IL13RA2_uc010nqd.1_Silent_p.C145C|IL13RA2_uc022cdb.1_Silent_p.C145C	p.C145C	NM_000640	NP_000631	Q14627	I13R2_HUMAN			4	560	-			145			Fibronectin type-III 2.		A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	c.435C>T	CCDS14565.1																																																																																				0.328	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		A	114248418	G	A	114248418	2	1	243	1	0	0	0	0	0	0	0	1	7630	1079	38	1		1	IL13RA2	23	114248418	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	59262090	114248418	41022142	79	17296											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854536	12854536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataatgaactccaaggaCggttagttgccaaattcagc	14	9	9	9	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	5	4	rs1063777		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:12854536C>T	ENST00000332296.7	+	3	863	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	254					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAAGGACGGTTAGTTGC	0.438																																						uc001auj.2																			0		p.G253G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(760-762)Cgg>Tgg		Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.							157	157	157					1																	12854536		2203	4299	6502	SO:0001583	missense	65121							g.chr1:12854536C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.760C>T	1.37:g.12854536C>T	ENSP00000332134:p.Arg254Trp						p.R254W	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	863	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	254					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.760C>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.456	0.084534	0.08583	.	.	ENSG00000116721	ENST00000332296	T	0.17213	2.29	1.44	-2.89	0.05665	.	0.973308	0.08426	N	0.947639	T	0.13372	0.0324	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.29366	-1.0014	10	0.66056	D	0.02	.	4.379	0.11284	0.0:0.5004:0.1882:0.3114	rs1063777	254	O95521	PRAM1_HUMAN	W	254	ENSP00000332134:R254W	ENSP00000332134:R254W	R	+	1	2	PRAMEF1	12777123	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.878000	0.04192	-1.613000	0.01577	-2.571000	0.00171	CGG		0.438	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12854536	C	T	12854536	3	4	244	1	0	0	0	0	1	0	0	0	12425	527	19	1	766	1	PRAMEF1	1	12854536	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		12854536	236396085	1	17297											
KIF17	57576	broad.mit.edu	37	chr1	21016727	21016727	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggacagcctgacgtcAtatgagttgcgcatggcagt	9	9	14	9	3	1	2	1	2	0	0	1	3	1	3	1	2	3	3	1	2	1	2	rs143130602		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:21016727A>G	ENST00000247986.2	-	7	1645	c.1335T>C	c.(1333-1335)taT>taC	p.Y445Y	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.Y345Y|KIF17_ENST00000400463.3_Silent_p.Y445Y			Q9P2E2	KIF17_HUMAN	kinesin family member 17	445					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCTGACGTCATATGAGTTGC	0.627																																						uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1333-1335)taT>taC		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.		A	,	1,4405	2.1+/-5.4	0,1,2202	60	53	56		1335,1335	-2.1	0	1	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,	445/1029,445/1030	21016727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21016727A>G	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1335T>C	1.37:g.21016727A>G						KIF17_uc009vpx.3_Missense_Mutation_p.M1T|KIF17_uc001bds.4_Silent_p.Y445Y	p.Y445Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	6	1453	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	445					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1335T>C	CCDS213.1																																																																																				0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		G	21016727	A	G	21016727	2	3	244	1	0	0	0	0	0	0	0	1	8279	224	8	4		4	KIF17	1	21016727	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08	8162191	21016727	228233894	2	17298											
SLC44A5	204962	broad.mit.edu	37	chr1	75708631	75708631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcccagtagcttttgtcTtttgtgtacaaaagttgcat	8	18	7	8	0	2	0	0	0	2	0	3	0	3	0	1	0	3	5	1	0	4	8			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:75708631T>A	ENST00000370855.5	-	8	524	c.411A>T	c.(409-411)aaA>aaT	p.K137N	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_Missense_Mutation_p.K7N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K137N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	137					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGCTTTTGTCTTTTGTGTACA	0.393																																						uc010oqz.1																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(526-528)aaA>aaT		Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.							148	149	149					1																	75708631		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75708631T>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.411A>T	1.37:g.75708631T>A	ENSP00000359892:p.Lys137Asn					SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgu.3_Missense_Mutation_p.K137N|SLC44A5_uc010ora.2_Missense_Mutation_p.K131N|SLC44A5_uc010orb.2_Missense_Mutation_p.K7N	p.K176N	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN			6	594	-			137					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.528A>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725099	0.48833	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.16743	2.32;2.32;2.52	5.07	-4.28	0.03732	.	1.603030	0.02790	N	0.121938	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.001;0.0;0.003;0.003	T	0.34229	-0.9837	10	0.13108	T	0.6	2.989	10.5718	0.45204	0.0:0.165:0.6476:0.1874	.	131;176;137;137;176	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	137;176;137;7;130	ENSP00000359896:K137N;ENSP00000359892:K137N;ENSP00000443090:K7N	ENSP00000359892:K137N	K	-	3	2	SLC44A5	75481219	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-0.903000	0.04084	-0.486000	0.06744	0.533000	0.62120	AAA		0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		A	75708631	T	A	75708631	3	1	244	1	0	0	0	0	1	0	0	0	14639	1606	56	5	1927	5	SLC44A5	1	75708631	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	54691904	75708631	173541990	3	17299											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863259	186863259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatgccaattatgtcatGgatgaaactctagggacagc	13	10	11	7	0	2	1	1	1	1	0	2	4	2	4	1	3	3	0	1	3	4	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:186863259G>A	ENST00000367466.3	+	5	446	c.294G>A	c.(292-294)atG>atA	p.M98I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.M98I|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	98	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATTATGTCATGGATGAAACTC	0.338																																						uc001gsc.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(292-294)atG>atA		Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						153	150	151					1																	186863259		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186863259G>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.294G>A	1.37:g.186863259G>A	ENSP00000356436:p.Met98Ile					PLA2G4A_uc010pos.2_Missense_Mutation_p.M98I	p.M98I	NM_024420	NP_077734	P47712	PA24A_HUMAN			4	499	+			98			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.294G>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074231	0.55646	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.68765	-0.35;-0.35	5.71	5.71	0.89125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.38531	1.155	0.58432	D	0.999993	B;B	0.18863	0.023;0.031	B;B	0.20577	0.03;0.022	T	0.52586	-0.8556	10	0.22706	T	0.39	-26.2512	18.8654	0.92290	0.0:0.0:1.0:0.0	.	98;98	E7EU42;P47712	.;PA24A_HUMAN	I	98	ENSP00000356436:M98I;ENSP00000406892:M98I	ENSP00000356436:M98I	M	+	3	0	PLA2G4A	185129882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.280000	0.78610	2.686000	0.91538	0.650000	0.86243	ATG		0.338	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		A	186863259	G	A	186863259	3	1	244	1	0	0	0	0	1	0	0	0	12001	1348	47	3	308	3	PLA2G4A	1	186863259	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	111154628	186863259	62387362	4	17300											
RYR2	6262	broad.mit.edu	37	chr1	237632425	237632425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatcgtaaaaactgtgCtcaattttctggctccctcg	11	12	8	10	2	2	0	1	0	1	0	5	1	3	1	1	2	2	3	1	2	5	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:237632425C>G	ENST00000366574.2	+	17	1963	c.1646C>G	c.(1645-1647)gCt>gGt	p.A549G	RYR2_ENST00000542537.1_Missense_Mutation_p.A533G|RYR2_ENST00000360064.6_Missense_Mutation_p.A547G|MIR4428_ENST00000584884.1_RNA	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	549					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAACTGTGCTCAATTTTCT	0.373																																						uc001hyl.1																			0		p.Q548P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1645-1647)gCt>gGt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							123	121	122					1																	237632425		1818	4084	5902	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632425C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1646C>G	1.37:g.237632425C>G	ENSP00000355533:p.Ala549Gly						p.A549G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1766	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	549					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1646C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440008	0.83993	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95949	-3.86;-3.86;-3.86	4.94	4.94	0.65067	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000020	D	0.96895	0.8986	M	0.83603	2.65	0.80722	D	1	D	0.57257	0.979	P	0.54759	0.76	D	0.97501	1.0060	10	0.87932	D	0	.	15.0843	0.72138	0.0:1.0:0.0:0.0	.	549	Q92736	RYR2_HUMAN	G	549;547;533	ENSP00000355533:A549G;ENSP00000353174:A547G;ENSP00000443798:A533G	ENSP00000353174:A547G	A	+	2	0	RYR2	235699048	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.968000	0.76086	2.285000	0.76669	0.563000	0.77884	GCT		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237632425	C	G	237632425	3	3	244	1	0	0	0	0	1	0	0	0	13769	797	28	5	1712	5	RYR2	1	237632425	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	50769166	237632425	11618196	5	17301											
NBAS	51594	broad.mit.edu	37	chr2	15564456	15564456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgccgagcataatgctCtatttcctctgctctggtct	6	14	7	14	1	4	0	0	0	4	0	5	1	5	0	3	1	4	3	3	1	2	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:15564456C>G	ENST00000281513.5	-	23	2585	c.2560G>C	c.(2560-2562)Gag>Cag	p.E854Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E854Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	854					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCATAATGCTCTATTTCCTCT	0.502																																						uc002rcc.1																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2560-2562)Gag>Cag		Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.							209	152	171					2																	15564456		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15564456C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2560G>C	2.37:g.15564456C>G	ENSP00000281513:p.Glu854Gln					NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_Non-coding_Transcript	p.E854Q	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			22	2586	-			854					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2560G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.962966|1.962966	0.34659|0.34659	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.18174|.	2.23;2.23;2.31|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Secretory pathway Sec39 (1);|.	0.046256|.	0.85682|.	D|.	0.000000|.	T|.	0.69744|.	0.3145|.	M|M	0.77103|0.77103	2.36|2.36	0.22779|0.22779	N|N	0.998743|0.998743	B;D|.	0.76494|.	0.022;0.999|.	B;D|.	0.71184|.	0.004;0.972|.	T|.	0.63782|.	-0.6559|.	10|.	0.87932|.	D|.	0|.	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	854;854|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	Q|Y	854;854;21|21	ENSP00000413201:E854Q;ENSP00000281513:E854Q;ENSP00000396501:E21Q|.	ENSP00000281513:E854Q|.	E|X	-|-	1|3	0|2	NBAS|NBAS	15481907|15481907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.956000|6.956000	0.76013|0.76013	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GAG|TAG		0.502	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15564456	C	G	15564456	3	3	244	1	0	0	0	0	1	0	0	0	10186	922	32	5	4675	5	NBAS	2	15564456	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		15564456	227634917	6	17302											
XDH	7498	broad.mit.edu	37	chr2	31588885	31588885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacaccacagtgctccGggtctccttgcctccaaagc	7	8	10	16	2	1	0	0	0	1	0	4	1	3	1	5	2	3	1	5	2	1	1	rs140007233		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:31588885G>A	ENST00000379416.3	-	22	2461	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	805					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACAGTGCTCCGGGTCTCCTTG	0.527																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2413-2415)Cgg>Tgg		Homo sapiens xanthine dehydrogenase (XDH), mRNA.	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107	101	103		2413	0.6	1	2	dbSNP_134	103	0,8600		0,0,4300	no	missense	XDH	NM_000379.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	805/1334	31588885	1,13005	2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31588885G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2413C>T	2.37:g.31588885G>A	ENSP00000368727:p.Arg805Trp						p.R805W	NM_000379	NP_000370	P47989	XDH_HUMAN			21	2492	-	Acute lymphoblastic leukemia(172;0.155)		805					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2413C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269203	0.80469	2.27E-4	0.0	ENSG00000158125	ENST00000379416	T	0.39229	1.09	6.17	0.619	0.17630	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84585	0.0663	10	0.87932	D	0	.	16.339	0.83075	0.0:0.0:0.3057:0.6943	.	805	P47989	XDH_HUMAN	W	805	ENSP00000368727:R805W	ENSP00000368727:R805W	R	-	1	2	XDH	31442389	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	2.759000	0.47573	0.421000	0.25980	0.655000	0.94253	CGG		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31588885	G	A	31588885	3	1	244	1	0	0	0	0	1	0	0	0	17423	1115	39	2	1648	2	XDH	2	31588885	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	16024429	31588885	211610488	7	17303											
DQX1	165545	broad.mit.edu	37	chr2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcactgagtggaggaCgggtaaacccaggggcagct	9	7	15	10	1	1	1	0	1	1	0	1	3	1	3	1	5	3	4	1	5	2	2	rs200754645		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:74747143C>T	ENST00000404568.3	-	9	1733	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_ENST00000393951.2_Missense_Mutation_p.R505H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	505						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527																																						uc010yrw.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1513-1515)cGt>cAt		Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.		C	HIS/ARG	0,4406		0,0,2203	73	77	75		1514	-4.2	0.1	2		75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DQX1	NM_133637.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	505/718	74747143	2,13004	2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74747143C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1514G>A	2.37:g.74747143C>T	ENSP00000384621:p.Arg505His					DQX1_uc002smc.3_Missense_Mutation_p.R66H	p.R505H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			8	1679	-			505					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1514G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531258	0.13127	0.0	2.33E-4	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02606	4.23;4.23	5.05	-4.21	0.03812	Helicase-associated domain (2);	1.081660	0.07063	N	0.834076	T	0.06462	0.0166	M	0.84156	2.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.87932	D	0	-16.1698	12.4638	0.55747	0.0:0.2756:0.0:0.7244	.	505	Q8TE96	DQX1_HUMAN	H	505	ENSP00000377523:R505H;ENSP00000384621:R505H	ENSP00000377523:R505H	R	-	2	0	DQX1	74600651	0.000000	0.05858	0.135000	0.22099	0.956000	0.61745	-0.348000	0.07740	-1.348000	0.02205	-1.202000	0.01658	CGT		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		T	74747143	C	T	74747143	3	4	244	1	0	0	0	0	1	0	0	0	4751	536	19	1	655	1	DQX1	2	74747143	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	43158258	74747143	168452230	8	17304											
OSBPL10	114884	broad.mit.edu	37	chr3	31921180	31921180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctctccattagcagagtAcaccaccagcatgtggggag	11	8	10	12	0	1	1	0	0	1	1	3	2	2	2	3	2	3	3	3	2	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:31921180A>G	ENST00000396556.2	-	2	546	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	OSBPL10_ENST00000438237.2_Missense_Mutation_p.Y142H	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	142	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTAGCAGAGTACACCACCAGC	0.483																																						uc021wuu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(424-426)Tac>Cac		Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.							108	102	104					3																	31921180		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31921180A>G	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.424T>C	3.37:g.31921180A>G	ENSP00000379804:p.Tyr142His					OSBPL10_uc011axf.2_Missense_Mutation_p.Y142H	p.Y142H	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	1	1095	-			142			PH.		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.424T>C	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183899	0.38609	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.41400	1.0;2.32	5.62	5.62	0.85841	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.252332	0.39475	N	0.001341	T	0.27663	0.0680	N	0.16201	0.385	0.26525	N	0.974356	B;B	0.25772	0.134;0.031	B;B	0.24848	0.052;0.056	T	0.11251	-1.0595	10	0.17369	T	0.5	-16.283	15.8163	0.78604	1.0:0.0:0.0:0.0	.	142;142	B4E212;Q9BXB5	.;OSB10_HUMAN	H	142	ENSP00000379804:Y142H;ENSP00000406124:Y142H	ENSP00000379804:Y142H	Y	-	1	0	OSBPL10	31896184	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.136000	0.42121	2.142000	0.66516	0.459000	0.35465	TAC		0.483	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			G	31921180	A	G	31921180	3	3	244	1	0	0	0	0	1	0	0	0	11275	391	14	4	1914	4	OSBPL10	3	31921180	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08		31921180	166101250	9	17305											
IMPDH2	54870	broad.mit.edu	37	chr3	49064276	49064276	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggtctgtccgggcaatGatggccacaagctcatcatc	9	10	10	12	1	4	1	3	1	1	0	6	1	5	1	2	3	1	2	2	3	2	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:49064276G>A	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Silent_p.I221I|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCGGGCAATGATGGCCACAA	0.527																																						uc003cvt.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(661-663)atC>atT		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						157	152	153					3																	49064276		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064276G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49064276G>A							p.I221I	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	755	-			221			CBS 2.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.663C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816234	0.16607	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.97	4.2	0.49525	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53322	-0.8455	4	.	.	.	-20.1894	7.3153	0.26498	0.1368:0.0:0.6291:0.2341	.	.	.	.	Y	153	.	.	H	-	1	0	IMPDH2	49039280	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.118000	0.31246	0.872000	0.35775	0.655000	0.94253	CAT		0.527	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		A	49064276	G	A	49064276	1	1	244	0	1	0	0	0	0	0	0	0	7727	1280	45	3		3	IMPDH2	3	49064276	IGR	SNP	G	TCGA-41-2573-01A-01D-1495-08	17143096	49064276	148958154	10	17306											
HCLS1	3059	broad.mit.edu	37	chr3	121351248	121351248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagtccccctctggttcatCctcctgctcatgcctgtcca	5	13	6	17	0	3	0	2	0	1	0	7	0	7	0	6	1	2	2	6	1	1	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:121351248C>T	ENST00000314583.3	-	12	1262	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D354N	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	391					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGGTTCATCCTCCTGCTCA	0.552																																						uc003eeh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1171-1173)Gat>Aat		Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.							253	235	241					3																	121351248		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351248C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1171G>A	3.37:g.121351248C>T	ENSP00000320176:p.Asp391Asn					HCLS1_uc011bjj.2_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_Non-coding_Transcript	p.D391N	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	11	1296	-			391					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1171G>A	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	8.970	0.972686	0.18736	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20200	2.11;2.09	5.03	-1.0	0.10196	.	1.278550	0.04839	N	0.440137	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33394	-0.9870	10	0.15066	T	0.55	-0.0531	8.6934	0.34280	0.0:0.4646:0.0:0.5354	.	354;391	E7EVW7;P14317	.;HCLS1_HUMAN	N	391;354	ENSP00000320176:D391N;ENSP00000387645:D354N	ENSP00000320176:D391N	D	-	1	0	HCLS1	122833938	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.098000	0.11024	-0.139000	0.11414	-0.258000	0.10820	GAT		0.552	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		T	121351248	C	T	121351248	3	4	244	1	0	0	0	0	1	0	0	0	6995	855	30	3	301	3	HCLS1	3	121351248	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	72286972	121351248	76671182	11	17307											
LEKR1	389170	broad.mit.edu	37	chr3	156763431	156763431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagagggttagatcaggCgtgcccattctcccccagcc	8	7	11	15	2	2	2	1	0	1	2	3	3	2	2	5	2	2	1	5	2	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:156763431C>T	ENST00000470811.1	+	14	2394	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	LEKR1_ENST00000356539.4_Silent_p.G657G			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	353										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTAGATCAGGCGTGCCCATTC	0.537																																						uc021xgh.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(1969-1971)ggC>ggT		Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.							76	83	81					3																	156763431		2203	4300	6503	SO:0001819	synonymous_variant	389170							g.chr3:156763431C>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.1059C>T	3.37:g.156763431C>T						LEKR1_uc003fba.1_Non-coding_Transcript	p.G657G	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		12	2085	+			0						Silent	SNP	ENST00000470811.1	37	c.1971C>T																																																																																					0.537	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		T	156763431	C	T	156763431	2	4	244	1	0	0	0	0	0	0	0	1	8717	755	27	1		1	LEKR1	3	156763431	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	35412183	156763431	41258999	12	17308											
ZNF595	152687	broad.mit.edu	37	chr4	60030	60030	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgaagatacatgagacAgcagccaaacccccaggtag	16	6	9	10	0	0	3	0	2	0	2	0	4	0	3	3	1	4	2	3	1	5	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:60030A>T	ENST00000509152.2	+	3	395	c.210A>T	c.(208-210)acA>acT	p.T70T	ZNF595_ENST00000526473.2_Silent_p.T70T|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TACATGAGACAGCAGCCAAAC	0.468																																						uc003fzv.1																			0											c.(208-210)acA>acT		Homo sapiens zinc finger protein 595 (ZNF595), mRNA.							113	120	118					4																	60030		2180	4295	6475	SO:0001819	synonymous_variant	152687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:60030A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.210A>T	4.37:g.60030A>T						ZNF718_uc003fzt.4_Silent_p.T70T|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	p.T70T	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	2	366	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	70			KRAB.			Silent	SNP	ENST00000509152.2	37	c.210A>T																																																																																					0.468	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		T	60030	A	T	60030	2	4	244	1	0	0	0	0	0	0	0	1	18022	175	7	5		5	ZNF595	4	60030	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08		60030	191094246	13	17309											
UGT2A3	79799	broad.mit.edu	37	chr4	69795704	69795704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcgcaggtgcttggCtcctttgtggcgcatgacaa	7	11	13	10	2	0	2	0	2	0	0	2	2	1	2	1	3	2	5	1	3	1	2	rs373529001		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:69795704C>A	ENST00000251566.4	-	6	1441	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A182S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	471					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTGCTTGGCTCCTTTGTGG	0.488																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1411-1413)Gcc>Tcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							90	90	90					4																	69795704		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795704C>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1411G>T	4.37:g.69795704C>A	ENSP00000251566:p.Ala471Ser					UGT2A3_uc010ihp.1_Non-coding_Transcript	p.A471S	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			5	1442	-			471					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1411G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599257	0.46318	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.71461	-0.57;-0.22	2.22	2.22	0.28083	.	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.93638	3.44	0.40578	D	0.981361	D	0.76494	0.999	D	0.74023	0.982	D	0.87747	0.2589	10	0.87932	D	0	.	10.0537	0.42233	0.0:1.0:0.0:0.0	.	471	Q6UWM9	UD2A3_HUMAN	S	471;182	ENSP00000251566:A471S;ENSP00000440115:A182S	ENSP00000251566:A471S	A	-	1	0	UGT2A3	69830293	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	6.537000	0.73847	1.248000	0.43934	0.491000	0.48974	GCC		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		A	69795704	C	A	69795704	3	1	244	1	0	0	0	0	1	0	0	0	16952	797	28	5	176	5	UGT2A3	4	69795704	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	69735674	69795704	121358572	14	17310											
MAP3K1	4214	broad.mit.edu	37	chr5	56179395	56179395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccaaagcaaaacaaccGtatagagaagacactgaatg	20	5	7	9	1	0	3	0	1	0	2	0	4	0	3	2	0	4	2	2	0	9	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:56179395G>A	ENST00000399503.3	+	15	3708	c.3708G>A	c.(3706-3708)ccG>ccA	p.P1236P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1236					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAAAACAACCGTATAGAGAAG	0.383																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3706-3708)ccG>ccA		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							151	144	146					5																	56179395		1867	4086	5953	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56179395G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3708G>A	5.37:g.56179395G>A							p.P1236P	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	4209	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1236						Silent	SNP	ENST00000399503.3	37	c.3708G>A	CCDS43318.1																																																																																				0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		A	56179395	G	A	56179395	2	1	244	1	0	0	0	0	0	0	0	1	9243	1132	40	1		1	MAP3K1	5	56179395	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08		56179395	124735865	15	17311											
GPR98	84059	broad.mit.edu	37	chr5	89985863	89985863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaggcagtcattattattGaggcctctgatgacccctat	10	12	9	10	0	2	4	1	3	1	1	2	4	2	4	3	2	0	1	3	2	3	4	rs397517433		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:89985863G>C	ENST00000405460.2	+	30	6772	c.6676G>C	c.(6676-6678)Gag>Cag	p.E2226Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2226	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTATTATTGAGGCCTCTGA	0.378																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6676-6678)Gag>Cag		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							34	33	33					5																	89985863		1832	4080	5912	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89985863G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6676G>C	5.37:g.89985863G>C	ENSP00000384582:p.Glu2226Gln					GPR98_uc003kjt.3_5'UTR	p.E2226Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6772	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2226					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6676G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116234	0.56505	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27256	1.68	5.36	5.36	0.76844	Na-Ca exchanger/integrin-beta4 (1);	0.174116	0.50627	D	0.000101	T	0.45054	0.1323	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.13845	-1.0494	10	0.36615	T	0.2	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2226	Q8WXG9	GPR98_HUMAN	Q	2226	ENSP00000384582:E2226Q	ENSP00000296619:E2226Q	E	+	1	0	GPR98	90021619	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.890000	0.63178	2.501000	0.84356	0.650000	0.86243	GAG		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89985863	G	C	89985863	3	2	244	1	0	0	0	0	1	0	0	0	6721	1291	45	5	6794	5	GPR98	5	89985863	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	33806468	89985863	90929397	16	17312											
FTMT	94033	broad.mit.edu	37	chr5	121187869	121187869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctctcgggtgcgccagAacttccaccccgactccgag	6	6	10	19	4	1	1	0	0	1	1	4	3	3	1	7	1	2	0	7	1	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:121187869A>G	ENST00000321339.1	+	1	220	c.211A>G	c.(211-213)Aac>Gac	p.N71D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	71	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGTGCGCCAGAACTTCCACCC	0.692																																						uc003kss.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(211-213)Aac>Gac		Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.							46	40	42					5																	121187869		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187869A>G	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.211A>G	5.37:g.121187869A>G	ENSP00000313691:p.Asn71Asp						p.N71D	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	0	220	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	71			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.211A>G	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177254	0.57692	.	.	ENSG00000181867	ENST00000321339	T	0.69175	-0.38	3.47	2.29	0.28610	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.86097	2.795	0.49389	D	0.99978	B	0.25772	0.134	B	0.38296	0.27	T	0.72037	-0.4411	10	0.87932	D	0	.	8.5223	0.33285	0.8042:0.1958:0.0:0.0	.	71	Q8N4E7	FTMT_HUMAN	D	71	ENSP00000313691:N71D	ENSP00000313691:N71D	N	+	1	0	FTMT	121215768	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.483000	0.60264	0.689000	0.31550	0.533000	0.62120	AAC		0.692	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		G	121187869	A	G	121187869	3	3	244	1	0	0	0	0	1	0	0	0	6085	246	9	4	213	4	FTMT	5	121187869	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08	31202006	121187869	59727391	17	17313											
KCNMB1	3779	broad.mit.edu	37	chr5	169805757	169805757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggttgctcttcaccatgGcgataatgaggaggccaccg	9	9	12	11	2	2	1	1	1	1	0	2	3	2	2	3	4	1	2	3	4	1	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:169805757G>A	ENST00000274629.4	-	4	969	c.527C>T	c.(526-528)gCc>gTc	p.A176V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	176					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CTTCACCATGGCGATAATGAG	0.612																																						uc003maq.1																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(526-528)gCc>gTc		Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.							90	91	91					5																	169805757		2203	4300	6503	SO:0001583	missense	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805757G>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.527C>T	5.37:g.169805757G>A	ENSP00000274629:p.Ala176Val					KCNIP1_uc003map.3_Intron	p.A176V	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	3	927	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	176					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.527C>T	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733870	0.15574	.	.	ENSG00000145936	ENST00000274629	T	0.07688	3.17	5.31	-0.511	0.11970	.	0.565899	0.18261	N	0.146607	T	0.04003	0.0112	N	0.17082	0.46	0.09310	N	0.999996	B	0.06786	0.001	B	0.12156	0.007	T	0.42982	-0.9419	9	.	.	.	.	5.5414	0.17039	0.3803:0.1421:0.4776:0.0	.	176	Q16558	KCMB1_HUMAN	V	176	ENSP00000274629:A176V	.	A	-	2	0	KCNMB1	169738335	0.326000	0.24669	0.859000	0.33776	0.869000	0.49853	0.467000	0.22035	-0.019000	0.14055	0.591000	0.81541	GCC		0.612	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			A	169805757	G	A	169805757	3	1	244	1	0	0	0	0	1	0	0	0	8074	1203	42	3	52	3	KCNMB1	5	169805757	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	48617888	169805757	11109503	18	17314											
DSP	1832	broad.mit.edu	37	chr6	7581800	7581800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattccaaaagcaggctttaGaggtattcacaaatacttga	16	11	7	7	0	1	2	1	1	0	1	2	2	2	2	1	2	2	3	1	2	7	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:7581800G>A	ENST00000379802.3	+	23	5718	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1793	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCTTTAGAGGTATTCAC	0.383																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5377-5379)Gag>Aag		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							44	50	48					6																	7581800		2199	4297	6496	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581800G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5377G>A	6.37:g.7581800G>A	ENSP00000369129:p.Glu1793Lys					DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	p.E1793K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	5656	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1793			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5377G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454358	0.43634	.	.	ENSG00000096696	ENST00000379802	T	0.63417	-0.04	6.02	6.02	0.97574	.	0.088251	0.48767	D	0.000163	T	0.63943	0.2554	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.58820	0.846	T	0.53920	-0.8370	10	0.20519	T	0.43	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1793	P15924	DESP_HUMAN	K	1793	ENSP00000369129:E1793K	ENSP00000369129:E1793K	E	+	1	0	DSP	7526799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.876000	0.87215	2.865000	0.98341	0.655000	0.94253	GAG		0.383	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7581800	G	A	7581800	3	1	244	1	0	0	0	0	1	0	0	0	4781	943	33	3	5467	3	DSP	6	7581800	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		7581800	163533267	19	17315											
MAS1L	116511	broad.mit.edu	37	chr6	29455047	29455047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatgtttccagtaagttagGaaaagtgattttactatgtt	13	16	8	4	0	0	1	0	1	0	0	1	2	1	2	1	1	1	4	1	1	6	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:29455047G>A	ENST00000377127.3	-	1	691	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(631-633)ttC>ttT		Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.							59	58	58					6																	29455047		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455047G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.633C>T	6.37:g.29455047G>A							p.F211F	NM_052967	NP_443199	P35410	MAS1L_HUMAN			0	633	-			211					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.633C>T	CCDS4661.1																																																																																				0.433	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		A	29455047	G	A	29455047	2	1	244	1	0	0	0	0	0	0	0	1	9321	1165	41	3		3	MAS1L	6	29455047	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	21873247	29455047	141660020	20	17316											
MDN1	23195	broad.mit.edu	37	chr6	90360511	90360511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcttcacataaccgttgtGaaagaggcgctgttaagatc	11	11	10	9	2	2	3	1	1	1	2	3	3	2	3	1	1	1	4	1	1	3	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:90360511G>A	ENST00000369393.3	-	96	16086	c.15971C>T	c.(15970-15972)tCa>tTa	p.S5324L	MDN1_ENST00000428876.1_Missense_Mutation_p.S5324L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5324					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAACCGTTGTGAAAGAGGCGC	0.493																																						uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15970-15972)tCa>tTa		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							137	126	130					6																	90360511		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90360511G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15971C>T	6.37:g.90360511G>A	ENSP00000358400:p.Ser5324Leu						p.S5324L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	95	16087	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5324					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15971C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274002	0.59649	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.59	5.59	0.84812	.	0.079544	0.52532	D	0.000072	T	0.53883	0.1824	M	0.88979	2.995	0.58432	D	0.999999	D	0.59767	0.986	P	0.48304	0.573	T	0.66296	-0.5959	10	0.87932	D	0	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	5324	Q9NU22	MDN1_HUMAN	L	5324	ENSP00000358400:S5324L;ENSP00000413970:S5324L	ENSP00000358400:S5324L	S	-	2	0	MDN1	90417232	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.118000	0.94355	2.797000	0.96272	0.563000	0.77884	TCA		0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90360511	G	A	90360511	3	1	244	1	0	0	0	0	1	0	0	0	9415	1294	45	3	847	3	MDN1	6	90360511	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	60905464	90360511	80754556	21	17317											
TMEM200A	114801	broad.mit.edu	37	chr6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggttttcggagcagttttCgaatggacagctccgtggag	7	11	15	8	4	0	0	0	0	0	0	3	4	1	3	1	4	2	4	1	4	1	4	rs267600806		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:130762228C>T	ENST00000296978.3	+	3	1532	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.R221*|TMEM200A_ENST00000392429.1_Nonsense_Mutation_p.R221*	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	221						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478																																						uc003qcb.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(661-663)Cga>Tga		Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.		C	stop/ARG	0,4406		0,0,2203	56	55	55		661	5.7	1	6		55	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TMEM200A	NM_052913.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		221/492	130762228	1,13005	2203	4300	6503	SO:0001587	stop_gained	114801					integral to membrane		g.chr6:130762228C>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.661C>T	6.37:g.130762228C>T	ENSP00000296978:p.Arg221*					TMEM200A_uc003qca.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfh.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.3_Nonsense_Mutation_p.R221*|TMEM200A_uc021zfg.1_Nonsense_Mutation_p.R221*	p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	1	3039	+			221					Q96PX5	Nonsense_Mutation	SNP	ENST00000296978.3	37	c.661C>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	53	20.592529	0.99932	0.0	1.16E-4	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.7	5.7	0.88788	.	0.186727	0.45126	D	0.000400	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5529	13.7954	0.63168	0.2556:0.7444:0.0:0.0	.	.	.	.	X	221	.	ENSP00000296978:R221X	R	+	1	2	TMEM200A	130803921	0.678000	0.27586	0.984000	0.44739	0.656000	0.38851	1.674000	0.37544	2.692000	0.91855	0.655000	0.94253	CGA		0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		T	130762228	C	T	130762228	4	4	244	1	0	0	0	0	0	1	0	0	16120	876	31	2	663	2	TMEM200A	6	130762228	Nonsense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	40401717	130762228	40352839	22	17318											
SRCRB4D	136853	broad.mit.edu	37	chr7	76033672	76033672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttgggggaggaagggagGggcagcactcccatctccca	8	5	17	11	0	1	0	0	0	1	0	3	3	2	3	2	7	1	3	2	7	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:76033672G>A	ENST00000275560.3	-	2	432	c.85C>T	c.(85-87)Cct>Tct	p.P29S	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.P29A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGAAGGGAGGGGCAGCACTC	0.572																																						uc003ufb.3																			1	Substitution - Missense(1)	p.P29A(2)	lung(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(85-87)Cct>Tct		Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.							118	106	110					7																	76033672		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033672G>A																												ENST00000275560.3:c.85C>T	7.37:g.76033672G>A	ENSP00000275560:p.Pro29Ser					ZP3_uc003ufc.4_Intron	p.P29S	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			1	433	-			29						Missense_Mutation	SNP	ENST00000275560.3	37	c.85C>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	g	9.070	0.996632	0.19043	.	.	ENSG00000146700	ENST00000275560	T	0.01178	5.22	4.99	2.22	0.28083	.	0.382752	0.24757	N	0.035844	T	0.01320	0.0043	L	0.60455	1.87	0.09310	N	0.999997	B	0.27498	0.18	B	0.24269	0.052	T	0.45411	-0.9263	10	0.30854	T	0.27	.	4.2933	0.10888	0.185:0.0:0.6335:0.1815	.	29	Q8WTU2	SRB4D_HUMAN	S	29	ENSP00000275560:P29S	ENSP00000275560:P29S	P	-	1	0	SRCRB4D	75871608	0.001000	0.12720	0.003000	0.11579	0.067000	0.16453	0.253000	0.18296	0.837000	0.34925	-0.231000	0.12243	CCT		0.572	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			A	76033672	G	A	76033672	3	1	244	1	0	0	0	0	1	0	0	0	15136	1232	43	3	1682	3	SRCRB4D	7	76033672	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		76033672	83104991	23	17319											
AKR1B15	441282	broad.mit.edu	37	chr7	134254273	134254273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttattcactggccacagGgattcaaggtttgagtgact	10	13	10	8	0	3	2	2	2	1	0	3	3	3	3	1	3	0	1	1	3	2	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:134254273G>A	ENST00000457545.2	+	5	687	c.427G>A	c.(427-429)Gga>Aga	p.G143R	AKR1B15_ENST00000423958.1_Missense_Mutation_p.G115R	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	143							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGGCCACAGGGATTCAAGGT	0.507																																						uc011kpr.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(427-429)Gga>Aga		Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.							126	121	123					7																	134254273		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134254273G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.427G>A	7.37:g.134254273G>A	ENSP00000389289:p.Gly143Arg						p.G143R	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			4	726	+			143					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.427G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	15.10	2.734426	0.48939	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.21734	1.99;1.99	2.72	2.72	0.32119	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.38558	0.1045	L	0.55481	1.735	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.983	T	0.26292	-1.0107	9	0.87932	D	0	.	11.2078	0.48780	0.0:0.0:1.0:0.0	.	115;143;121	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	R	143;115	ENSP00000389289:G143R;ENSP00000397009:G115R	ENSP00000397009:G115R	G	+	1	0	AKR1B15	133904813	0.044000	0.20184	0.953000	0.39169	0.103000	0.19146	0.199000	0.17237	1.516000	0.48900	0.405000	0.27470	GGA		0.507	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			A	134254273	G	A	134254273	3	1	244	1	0	0	0	0	1	0	0	0	468	1233	43	3	437	3	AKR1B15	7	134254273	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	58220601	134254273	24884390	24	17320											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138794019	138794019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcgtccagggccatgCggcccccgtgggcgcacagg	5	3	17	16	5	0	0	0	0	0	0	1	0	1	0	4	4	2	2	4	4	0	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:138794019C>T	ENST00000242351.5	-	1	375	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R20H|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R20H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	20	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGGCCATGCGGCCCCCGTG	0.701																																						uc003vun.3																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(58-60)cGc>cAc		Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.							12	16	15					7																	138794019		2177	4280	6457	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138794019C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.59G>A	7.37:g.138794019C>T	ENSP00000242351:p.Arg20His					ZC3HAV1_uc003vup.3_Missense_Mutation_p.R20H	p.R20H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			0	447	-			20					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.59G>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501623	0.85176	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.36520	1.25;1.25;1.25	4.52	4.52	0.55395	.	0.000000	0.51477	D	0.000082	T	0.58708	0.2141	M	0.76002	2.32	0.48830	D	0.999716	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.62478	-0.6846	10	0.72032	D	0.01	.	12.9151	0.58200	0.0:1.0:0.0:0.0	.	20;20	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	H	20	ENSP00000242351:R20H;ENSP00000418385:R20H;ENSP00000419855:R20H	ENSP00000242351:R20H	R	-	2	0	ZC3HAV1	138444559	0.993000	0.37304	0.998000	0.56505	0.726000	0.41606	2.593000	0.46180	2.505000	0.84491	0.491000	0.48974	CGC		0.701	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		T	138794019	C	T	138794019	3	4	244	1	0	0	0	0	1	0	0	0	17572	768	27	1	2705	1	ZC3HAV1	7	138794019	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	4539746	138794019	20344644	25	17321											
PRSS1	5644	broad.mit.edu	37	chr7	142459677	142459677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgaagtcctggaggggaatGagcagttcatcaatgcagcc	11	8	13	9	1	2	1	2	1	0	0	4	4	3	3	2	3	3	3	2	3	3	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:142459677G>A	ENST00000311737.7	+	3	259	c.253G>A	c.(253-255)Gag>Aag	p.E85K	PRSS1_ENST00000486171.1_Missense_Mutation_p.E99K	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.E85Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGAGGGGAATGAGCAGTTCAT	0.547																																						uc003wak.2																			1	Substitution - Missense(1)	p.E85Q(2)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(253-255)Gag>Aag		Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.							233	216	222					7																	142459677		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459677G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.253G>A	7.37:g.142459677G>A	ENSP00000308720:p.Glu85Lys					TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25K	p.E85K	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	270	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	85			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.253G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529845	0.64860	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000492062	D;D;D	0.88896	-2.44;-2.44;-2.44	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.93478	0.6825	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	99;85	E7EQ64;P07477	.;TRY1_HUMAN	K	99;85;35	ENSP00000417854:E99K;ENSP00000308720:E85K;ENSP00000419912:E35K	ENSP00000308720:E85K	E	+	1	0	PRSS1	142139251	1.000000	0.71417	0.417000	0.26559	0.174000	0.22865	7.729000	0.84864	1.789000	0.52484	0.398000	0.26397	GAG		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142459677	G	A	142459677	3	1	244	1	0	0	0	0	1	0	0	0	12614	1291	45	3	263	3	PRSS1	7	142459677	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	3665658	142459677	16678986	26	17322											
POLB	5423	broad.mit.edu	37	chr8	42220141	42220141	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctacagccaaaactgttAcatcaggttgtggagcagtt	12	12	9	8	0	2	0	1	0	1	0	2	1	2	1	1	2	5	4	1	2	4	5			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:42220141A>G	ENST00000265421.4	+	11	803	c.633A>G	c.(631-633)ttA>ttG	p.L211L	POLB_ENST00000538005.1_Silent_p.L57L	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	211					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CAAAACTGTTACATCAGGTTG	0.333								DNA polymerases (catalytic subunits)																														uc003xoz.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(631-633)ttA>ttG	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	Cytarabine(DB00987)						86	84	85					8																	42220141		2203	4300	6503	SO:0001819	synonymous_variant	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42220141A>G		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.633A>G	8.37:g.42220141A>G						POLB_uc011lcs.2_Silent_p.L57L	p.L211L	NM_002690	NP_002681	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	803	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	211					B2RC78|Q3KP48|Q6FI34	Silent	SNP	ENST00000265421.4	37	c.633A>G	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	A	0.707	-0.788503	0.02884	.	.	ENSG00000070501	ENST00000518579;ENST00000517393	.	.	.	5.96	1.0	0.19881	.	.	.	.	.	T	0.54679	0.1873	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44952	-0.9294	4	.	.	.	0.1379	7.8338	0.29358	0.4851:0.0:0.5149:0.0	.	.	.	.	C	69;27	.	.	Y	+	2	0	POLB	42339298	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	0.723000	0.25939	0.176000	0.19873	-0.256000	0.11100	TAC		0.333	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		G	42220141	A	G	42220141	2	3	244	1	0	0	0	0	0	0	0	1	12189	388	14	4		4	POLB	8	42220141	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08		42220141	104143881	27	17323											
FAM83H	286077	broad.mit.edu	37	chr8	144808347	144808347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccccaagctgtccgagCggaagatggctgaacacttg	9	7	14	11	2	0	2	0	1	0	1	2	4	2	3	3	3	3	2	3	3	3	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:144808347C>T	ENST00000388913.3	-	5	3409	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1095					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGTCCGAGCGGAAGATGGC	0.697																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3283-3285)cGc>cAc		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							14	16	15					8																	144808347		1997	4166	6163	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808347C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3284G>A	8.37:g.144808347C>T	ENSP00000373565:p.Arg1095His						p.R1095H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	3353	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1095					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3284G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	13.35	2.211359	0.39102	.	.	ENSG00000180921	ENST00000388913	T	0.20069	2.1	4.96	4.08	0.47627	.	0.324779	0.21595	U	0.072028	T	0.22205	0.0535	L	0.32530	0.975	0.28416	N	0.917959	D	0.67145	0.996	P	0.47528	0.549	T	0.03887	-1.0995	10	0.54805	T	0.06	.	13.8572	0.63534	0.1538:0.8462:0.0:0.0	.	1095	Q6ZRV2	FA83H_HUMAN	H	1095	ENSP00000373565:R1095H	ENSP00000373565:R1095H	R	-	2	0	FAM83H	144880335	1.000000	0.71417	0.999000	0.59377	0.718000	0.41266	3.030000	0.49720	1.083000	0.41159	0.556000	0.70494	CGC		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144808347	C	T	144808347	3	4	244	1	0	0	0	0	1	0	0	0	5640	768	27	1	259	1	FAM83H	8	144808347	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	102588206	144808347	1555675	28	17324											
NFKBIL2	4796	broad.mit.edu	37	chr8	145661200	145661200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgcttggctcgggcacgGggcctgctctcctcactgtc	3	10	12	16	2	2	0	1	0	1	0	5	0	2	0	3	4	2	4	3	4	0	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:145661200G>A	ENST00000409379.3	-	17	2645	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	872					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCGGGCACGGGGCCTGCTCT	0.692																																						uc011llg.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(2614-2616)ccC>ccT		Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.							41	50	47					8																	145661200		2196	4292	6488	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661200G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2616C>T	8.37:g.145661200G>A						AK298596_uc011llh.1_Intron	p.P872P	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN			16	2631	-			872					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.2616C>T	CCDS34968.2																																																																																				0.692	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145661200	G	A	145661200	2	1	244	1	0	0	0	0	0	0	0	1	10382	1219	43	3		3	NFKBIL2	8	145661200	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	852853	145661200	702822	29	17325											
CEP110	11064	broad.mit.edu	37	chr9	123912528	123912528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttgtgcctcctcctggaTacatgatgtatactgtgctt	7	16	8	10	0	0	1	0	1	0	0	2	2	2	2	3	1	4	2	3	1	3	5	rs145241861		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:123912528T>C	ENST00000373855.1	+	25	3990	c.3730T>C	c.(3730-3732)Tac>Cac	p.Y1244H	CNTRL_ENST00000373850.1_Missense_Mutation_p.Y692H|CNTRL_ENST00000373847.1_Missense_Mutation_p.Y692H|CNTRL_ENST00000238341.5_Missense_Mutation_p.Y1244H			Q7Z7A1	CNTRL_HUMAN	centriolin	1244	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TCCTCCTGGATACATGATGTA	0.502													T|||	1	0.000199681	0	0	5008	,	,		19259	0		0.001	False		,,,				2504	0					uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3730-3732)Tac>Cac		Homo sapiens centriolin (CNTRL), mRNA.		T	HIS/TYR	0,4406		0,0,2203	204	162	176		3730	5.5	1	9	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTRL	NM_007018.4	83	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	1244/2326	123912528	1,13005	2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123912528T>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3730T>C	9.37:g.123912528T>C	ENSP00000362962:p.Tyr1244His					CNTRL_uc004bky.1_Missense_Mutation_p.Y848H|CNTRL_uc004bla.1_Missense_Mutation_p.Y692H|CNTRL_uc010mvo.1_5'UTR|CNTRL_uc004blb.1_5'Flank	p.Y1244H	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			22	3761	+			1244			Pro-rich.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3730T>C	CCDS35118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	19.42	3.824495	0.71143	0.0	1.16E-4	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.41400	1.59;1.59;1.59;1.0	5.46	5.46	0.80206	.	.	.	.	.	T	0.54255	0.1847	L	0.57536	1.79	0.25882	N	0.983575	D;D	0.65815	0.995;0.991	P;P	0.58172	0.834;0.687	T	0.51450	-0.8704	9	0.66056	D	0.02	.	10.4191	0.44340	0.155:0.0:0.0:0.845	.	1244;1244	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	H	1244;1244;1244;726;692;692	ENSP00000362962:Y1244H;ENSP00000238341:Y1244H;ENSP00000362956:Y692H;ENSP00000362953:Y692H	ENSP00000238341:Y1244H	Y	+	1	0	CNTRL	122952349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.592000	0.46171	2.073000	0.62155	0.533000	0.62120	TAC		0.502	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		C	123912528	T	C	123912528	3	2	244	1	0	0	0	0	1	0	0	0	3245	1406	49	4	3820	4	CEP110	9	123912528	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08		123912528	17300903	30	17326											
COL5A1	1289	broad.mit.edu	37	chr9	137591840	137591840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtctccatctacaaCgagcagggtatccagcagat	10	10	9	12	1	2	1	0	0	2	1	5	2	4	1	3	2	4	3	3	2	3	3	rs369180922		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0	0	5008	,	,		19502	0.001		0	False		,,,				2504	0					uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(361-363)aaC>aaT		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.		C		0,4406		0,0,2203	91	91	91		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T							p.N121N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	2	745	+		Myeloproliferative disorder(178;0.0341)	121			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.363C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137591840	C	T	137591840	2	4	244	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	13679312	137591840	3621591	31	17327											
SOHLH1	402381	broad.mit.edu	37	chr9	138586241	138586241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccactcacccggccacGagctgggaccagcagtcagc	8	3	12	18	2	2	0	2	0	0	0	2	2	2	1	5	3	3	2	5	3	0	0	rs538962017		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:138586241G>A	ENST00000298466.5	-	7	998	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S313L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	313					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCCGGCCACGAGCTGGGACC	0.637																																						uc010nbe.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(937-939)tCg>tTg		Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.							67	60	62					9																	138586241		2202	4300	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586241G>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.938C>T	9.37:g.138586241G>A	ENSP00000298466:p.Ser313Leu					SOHLH1_uc004cgl.3_Missense_Mutation_p.S313L	p.S313L	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	6	999	-		Myeloproliferative disorder(178;0.0511)	313					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.938C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	9.451	1.090584	0.20471	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.32753	1.44;1.46	4.08	1.17	0.20885	.	0.293956	0.18805	N	0.130687	T	0.14313	0.0346	N	0.14661	0.345	0.20703	N	0.999867	B;B	0.24368	0.072;0.102	B;B	0.17433	0.018;0.008	T	0.17561	-1.0365	10	0.30078	T	0.28	-22.8919	6.0163	0.19605	0.0:0.5562:0.3367:0.1071	.	313;313	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	313	ENSP00000298466:S313L;ENSP00000404438:S313L	ENSP00000298466:S313L	S	-	2	0	SOHLH1	137726062	0.973000	0.33851	0.941000	0.38009	0.006000	0.05464	0.175000	0.16762	0.493000	0.27837	-1.466000	0.01016	TCG		0.637	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		A	138586241	G	A	138586241	3	1	244	1	0	0	0	0	1	0	0	0	14923	1059	37	2	274	2	SOHLH1	9	138586241	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	994401	138586241	2627190	32	17328											
PTEN	5728	broad.mit.edu	37	chr10	89692800	89692800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgaagaccataaccCaccacagctagaacttatca	14	10	4	13	0	1	3	1	1	0	2	2	3	2	3	4	0	3	1	4	0	5	5			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr10:89692800C>T	ENST00000371953.3	+	5	1641	c.284C>T	c.(283-285)cCa>cTa	p.P95L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	95	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.P95L(3)|p.Y27fs*1(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCATAACCCACCACAGCTA	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		56	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(2)	p.0?(37)|p.P95L(6)|p.?(5)|p.R55fs*1(5)|p.P95S(4)|p.Y27fs*1(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.N94Y(1)|p.F90_P95>L(1)|p.F56fs*2(1)|p.N94I(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(283-285)cCa>cTa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							109	101	104					10																	89692800		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692800C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.284C>T	10.37:g.89692800C>T	ENSP00000361021:p.Pro95Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.P95L	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1316	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	95			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.284C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944798	0.92593	.	.	ENSG00000171862	ENST00000371953	D	0.98550	-4.99	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99671	1.0996	9	.	.	.	-6.8537	18.4584	0.90729	0.0:1.0:0.0:0.0	.	95	P60484	PTEN_HUMAN	L	95	ENSP00000361021:P95L	.	P	+	2	0	PTEN	89682780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.318000	0.78349	0.655000	0.94253	CCA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692800	C	T	89692800	3	4	244	1	0	0	0	0	1	0	0	0	12738	594	21	3	302	3	PTEN	10	89692800	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		89692800	45841947	33	17329											
PHRF1	57661	broad.mit.edu	37	chr11	608268	608268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcggaggccatcccccCcagagccctgggatgaggag	7	4	16	14	1	0	2	0	1	0	1	1	5	1	5	5	5	2	1	5	5	0	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:608268C>T	ENST00000264555.5	+	14	2940	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	PHRF1_ENST00000416188.2_Missense_Mutation_p.P937S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P936S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P934S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	938					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCATCCCCCCCAGAGCCCTG	0.697																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2812-2814)Cca>Tca		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							14	18	17					11																	608268		1935	4077	6012	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608268C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2812C>T	11.37:g.608268C>T	ENSP00000264555:p.Pro938Ser					PHRF1_uc010qwc.2_Missense_Mutation_p.P937S|PHRF1_uc010qwd.2_Missense_Mutation_p.P936S|PHRF1_uc010qwe.2_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.2_Non-coding_Transcript	p.P938S	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	2943	+			938					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2812C>T		.	.	.	.	.	.	.	.	.	.	C	1.002	-0.690618	0.03303	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.31	-2.93	0.05598	.	1.068010	0.07444	N	0.897824	T	0.55497	0.1924	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.13145	0.004;0.007;0.007;0.004	B;B;B;B	0.10450	0.002;0.005;0.005;0.002	T	0.37337	-0.9710	10	0.41790	T	0.15	0.0256	1.0075	0.01490	0.3559:0.2541:0.2252:0.1648	.	934;936;937;938	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	938;936;937;934	ENSP00000264555:P938S;ENSP00000388589:P936S;ENSP00000410626:P937S;ENSP00000431870:P934S	ENSP00000264555:P938S	P	+	1	0	PHRF1	598268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.035000	0.12205	-0.403000	0.07622	-0.266000	0.10368	CCA		0.697	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	608268	C	T	608268	3	4	244	1	0	0	0	0	1	0	0	0	11861	623	22	3	2859	3	PHRF1	11	608268	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		608268	134398248	34	17330											
OR51D1	390038	broad.mit.edu	37	chr11	4661911	4661911	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacttgctgctaccaccTgtagtcaacccccttgtcta	8	12	5	16	0	2	0	1	0	1	0	2	0	2	0	5	0	5	3	5	0	5	6			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4661911T>A	ENST00000357605.2	+	1	967	c.891T>A	c.(889-891)ccT>ccA	p.P297P	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACCACCTGTAGTCAACC	0.522																																						uc010qyk.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(889-891)ccT>ccA		Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.							111	106	108					11																	4661911		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661911T>A	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.891T>A	11.37:g.4661911T>A							p.P297P	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	967	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	297					B9EIK4	Silent	SNP	ENST00000357605.2	37	c.891T>A	CCDS31357.1																																																																																				0.522	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		A	4661911	T	A	4661911	2	1	244	1	0	0	0	0	0	0	0	1	11093	1567	55	5		5	OR51D1	11	4661911	Silent	SNP	T	TCGA-41-2573-01A-01D-1495-08	4053643	4661911	130344605	35	17331											
OR51T1	401665	broad.mit.edu	37	chr11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaccaagacaatccGccaggctatgttccagctgc	11	8	9	13	1	0	3	0	1	0	2	2	3	2	3	4	1	2	3	4	1	4	3	rs151076376	byFrequency	TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4904034G>A	ENST00000322049.1	+	1	905	c.905G>A	c.(904-906)cGc>cAc	p.R302H	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.R329H|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																						uc010qyp.2																			2	Substitution - Missense(2)	p.R329L(2)|p.R302L(1)	lung(2)	NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(985-987)cGc>cAc		Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.		G	HIS/ARG	0,4402		0,0,2201	93	88	90		986	4	0.9	11	dbSNP_134	90	5,8591	4.3+/-15.6	0,5,4293	yes	missense	OR51T1	NM_001004759.1	29	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	329/355	4904034	5,12993	2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904034G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>A	11.37:g.4904034G>A	ENSP00000322679:p.Arg302His						p.R329H	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	302					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923538	0.52653	0.0	5.82E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.32734	0.0839	N	0.08118	0	0.39490	D	0.968038	B	0.18968	0.032	B	0.12156	0.007	T	0.30001	-0.9993	10	0.72032	D	0.01	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	H	329;302	ENSP00000369738:R329H;ENSP00000322679:R302H	ENSP00000322679:R302H	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		A	4904034	G	A	4904034	3	1	244	1	0	0	0	0	1	0	0	0	11106	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	242123	4904034	130102482	36	17332											
SLC17A6	57084	broad.mit.edu	37	chr11	22399231	22399231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaagaaagaggaatttgTacaaggagaagtacaagact	20	6	12	3	0	0	4	0	0	0	4	0	7	0	6	0	3	2	2	0	3	9	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:22399231T>C	ENST00000263160.3	+	12	2131	c.1694T>C	c.(1693-1695)gTa>gCa	p.V565A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	565					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGAATTTGTACAAGGAGAA	0.353																																						uc001mqk.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(1693-1695)gTa>gCa		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.							43	44	43					11																	22399231		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399231T>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1694T>C	11.37:g.22399231T>C	ENSP00000263160:p.Val565Ala						p.V565A	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			11	2107	+			565					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1694T>C	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341152	0.41498	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.64438	-0.1	5.85	5.85	0.93711	.	0.060537	0.64402	D	0.000003	T	0.58495	0.2126	L	0.54323	1.7	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.53436	-0.8439	10	0.26408	T	0.33	.	16.2285	0.82315	0.0:0.0:0.0:1.0	.	565	Q9P2U8	VGLU2_HUMAN	A	565;453	ENSP00000263160:V565A	ENSP00000263160:V565A	V	+	2	0	SLC17A6	22355807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.235000	0.73313	0.460000	0.39030	GTA		0.353	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		C	22399231	T	C	22399231	3	2	244	1	0	0	0	0	1	0	0	0	14421	1638	57	4	1740	4	SLC17A6	11	22399231	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	17495197	22399231	112607285	37	17333											
OR4C15	81309	broad.mit.edu	37	chr11	55322570	55322570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtttatctgcatcataaActtctccttgttgcttgtct	6	19	7	9	0	4	0	1	0	3	0	5	0	4	0	1	1	3	4	1	1	3	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:55322570A>T	ENST00000314644.2	+	1	788	c.788A>T	c.(787-789)aAc>aTc	p.N263I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCATCATAAACTTCTCCTTG	0.478										HNSCC(20;0.049)																												uc010rig.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(787-789)aAc>aTc		Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.							204	145	165					11																	55322570		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322570A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.788A>T	11.37:g.55322570A>T	ENSP00000324958:p.Asn263Ile	HNSCC(20;0.049)					p.N263I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			0	788	+			209					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.788A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	5.083	0.201005	0.09652	.	.	ENSG00000181939	ENST00000314644	T	0.36157	1.27	5.02	-4.69	0.03299	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12092	0.0294	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28459	-1.0043	9	0.17369	T	0.5	.	3.8163	0.08817	0.5868:0.0749:0.1103:0.228	.	209	Q8NGM1	OR4CF_HUMAN	I	263	ENSP00000324958:N263I	ENSP00000324958:N263I	N	+	2	0	OR4C15	55079146	0.000000	0.05858	0.031000	0.17742	0.462000	0.32619	0.293000	0.19029	-0.553000	0.06158	-0.904000	0.02843	AAC		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		T	55322570	A	T	55322570	3	4	244	1	0	0	0	0	1	0	0	0	11048	43	2	5	790	5	OR4C15	11	55322570	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08	32923339	55322570	79683946	38	17334											
VWF	7450	broad.mit.edu	37	chr12	6138532	6138532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgcttcaggaccacGgagatgctcaggtggcggtc	7	10	14	10	2	3	1	2	0	1	1	4	3	3	2	1	5	2	2	1	5	1	2	rs369031938		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:6138532G>A	ENST00000261405.5	-	22	3197	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	981	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGGACCACGGAGATGCTCA	0.552																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2941-2943)tcC>tcT		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)	G		1,4405	2.1+/-5.4	0,1,2202	150	138	142		2943	-9.2	0.1	12		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VWF	NM_000552.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		981/2814	6138532	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138532G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2943C>T	12.37:g.6138532G>A						VWF_uc010set.1_Intron	p.S981S	NM_000552	NP_000543	P04275	VWF_HUMAN			21	3193	-			981			VWFD 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.2943C>T	CCDS8539.1																																																																																				0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6138532	G	A	6138532	2	1	244	1	0	0	0	0	0	0	0	1	17243	1103	39	2		2	VWF	12	6138532	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08		6138532	127713363	39	17335											
A2M	2	broad.mit.edu	37	chr12	9225468	9225468	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagccaccactgtgtcCtgttagagacagatgagtga	11	9	13	8	0	0	5	0	2	0	3	1	7	1	5	3	1	1	1	3	1	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:9225468C>A	ENST00000318602.7	-	30	4064		c.e30-1			NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCACTGTGTCCTGTTAGAGAC	0.478																																						uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.e30-1		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)						35	34	34					12																	9225468		2044	4236	6280	SO:0001630	splice_region_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225468C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3757-1G>T	12.37:g.9225468C>A						A2M_uc009zgk.1_Splice_Site_p.D1103_splice	p.D1253_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN			30	3870	-			1253					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Splice_Site	SNP	ENST00000318602.7	37	c.3757_splice	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997787	0.54147	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8331	0.96643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A2M	9116735	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.807000	0.86032	2.779000	0.95612	0.650000	0.86243	.		0.478	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Intron	A	9225468	C	A	9225468	5	1	244	1	0	0	0	0	0	0	1	0	4	695	24	5	696	5	A2M	12	9225468	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	3086936	9225468	124626427	40	17336											
YARS2	51067	broad.mit.edu	37	chr12	32908585	32908585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcgaagccacagtaaatgGtttggggaaaactcgccgtg	11	8	14	8	3	0	0	0	0	0	0	2	2	0	1	2	4	2	2	2	4	5	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:32908585G>C	ENST00000324868.8	-	1	251	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	75					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACAGTAAATGGTTTGGGGAAA	0.577											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rli.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(223-225)aCc>aGc		Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Tyrosine(DB00135)						110	117	114					12																	32908585		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908585G>C	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.224C>G	12.37:g.32908585G>C	ENSP00000320658:p.Thr75Ser		OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.T75S	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			0	303	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		75					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.224C>G	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645541	0.47258	.	.	ENSG00000139131	ENST00000324868	T	0.50813	0.73	5.1	5.1	0.69264	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.104806	0.64402	D	0.000005	T	0.33933	0.0880	N	0.25201	0.72	0.58432	D	0.999996	B	0.21147	0.052	B	0.24269	0.052	T	0.15723	-1.0427	10	0.06099	T	0.92	-5.1878	18.3808	0.90451	0.0:0.0:1.0:0.0	.	75	Q9Y2Z4	SYYM_HUMAN	S	75	ENSP00000320658:T75S	ENSP00000320658:T75S	T	-	2	0	YARS2	32799852	1.000000	0.71417	0.917000	0.36280	0.995000	0.86356	6.528000	0.73807	2.673000	0.90976	0.650000	0.86243	ACC		0.577	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		C	32908585	G	C	32908585	3	2	244	1	0	0	0	0	1	0	0	0	17465	1261	44	5	1229	5	YARS2	12	32908585	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	23683117	32908585	100943310	41	17337											
CPNE8	144402	broad.mit.edu	37	chr12	39079420	39079420	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttgaggattcccattCtgtagaaatttataggcaaa	12	14	10	5	0	1	2	0	1	1	1	2	3	2	3	1	3	0	3	1	3	5	8			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:39079420C>A	ENST00000331366.5	-	16	1240		c.e16-1		CPNE8_ENST00000360449.3_Splice_Site|CPNE8_ENST00000538596.2_Splice_Site	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATTCCCATTCTGTAGAAATT	0.383																																						uc001rls.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.e16-1		Homo sapiens copine VIII (CPNE8), mRNA.							83	90	88					12																	39079420		2203	4300	6503	SO:0001630	splice_region_variant	144402							g.chr12:39079420C>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1144-1G>T	12.37:g.39079420C>A						CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	p.N382_splice	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			16	1228	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	382			VWFA.		Q2TB41|Q86VY2	Splice_Site	SNP	ENST00000331366.5	37	c.1144_splice	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105678	0.56291	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5387	0.87841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPNE8	37365687	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.154000	0.77437	2.596000	0.87737	0.655000	0.94253	.		0.383	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	Intron	A	39079420	C	A	39079420	5	1	244	1	0	0	0	0	0	0	1	0	3818	927	32	5	571	5	CPNE8	12	39079420	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	6170835	39079420	94772475	42	17338											
ALX1	8092	broad.mit.edu	37	chr12	85695101	85695101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttcagccacgtgcccCtcaacaattttttcactgac	10	11	5	15	1	3	1	3	1	0	0	3	1	3	1	4	0	3	1	4	0	2	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:85695101C>T	ENST00000316824.3	+	4	984	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	277					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCACGTGCCCCTCAACAATTT	0.473																																						uc001tae.4																			0		p.P276P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(829-831)Ctc>Ttc		Homo sapiens ALX homeobox 1 (ALX1), mRNA.							111	108	109					12																	85695101		2203	4299	6502	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695101C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.829C>T	12.37:g.85695101C>T	ENSP00000315417:p.Leu277Phe						p.L277F	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	833	+			277					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.829C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654614	0.47467	.	.	ENSG00000180318	ENST00000316824	D	0.93133	-3.17	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	L	0.53249	1.67	0.80722	D	1	P	0.49961	0.93	B	0.44044	0.439	D	0.91542	0.5250	10	0.37606	T	0.19	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	277	Q15699	ALX1_HUMAN	F	277	ENSP00000315417:L277F	ENSP00000315417:L277F	L	+	1	0	ALX1	84219232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.967000	0.49216	2.840000	0.97914	0.655000	0.94253	CTC		0.473	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		T	85695101	C	T	85695101	3	4	244	1	0	0	0	0	1	0	0	0	556	681	24	3	843	3	ALX1	12	85695101	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	46615681	85695101	48156794	43	17339											
ZNF10	7556	broad.mit.edu	37	chr12	133732883	133732883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagacaaactgtacacaTgtaatcagtgtgggaaatct	15	9	10	7	0	2	1	1	0	1	1	2	3	2	2	0	2	2	2	0	2	4	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:133732883T>C	ENST00000248211.6	+	5	1273	c.1051T>C	c.(1051-1053)Tgt>Cgt	p.C351R	ZNF10_ENST00000402932.2_Missense_Mutation_p.C217R|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.C351R	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTGTACACATGTAATCAGTG	0.413																																						uc009zzb.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(1051-1053)Tgt>Cgt		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							138	145	143					12																	133732883		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732883T>C	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1051T>C	12.37:g.133732883T>C	ENSP00000248211:p.Cys351Arg					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.C351R	p.C351R	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1498	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	351					B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.1051T>C	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386696	0.61956	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	D;D;D	0.85258	-1.96;-1.96;-1.96	3.6	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001799	D	0.94532	0.8239	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95417	0.8503	9	.	.	.	.	11.6223	0.51126	0.0:0.0:0.0:1.0	.	351	P21506	ZNF10_HUMAN	R	351;351;217	ENSP00000248211:C351R;ENSP00000393814:C351R;ENSP00000384893:C217R	.	C	+	1	0	ZNF10	132242956	1.000000	0.71417	0.943000	0.38184	0.980000	0.70556	4.397000	0.59690	1.638000	0.50547	0.533000	0.62120	TGT		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		C	133732883	T	C	133732883	3	2	244	1	0	0	0	0	1	0	0	0	17709	1464	51	4	1065	4	ZNF10	12	133732883	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	48037782	133732883	119012	44	17340											
RYR3	6263	broad.mit.edu	37	chr15	33822868	33822868	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcactctttcagcggaatgGtaagcagctctggtgcccac	8	9	12	12	1	3	0	1	0	2	0	3	1	3	1	1	4	4	4	1	4	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr15:33822868G>A	ENST00000389232.4	+	4	424		c.e4+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGGAATGGTAAGCAGCTC	0.498																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.e4+1		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							63	60	61					15																	33822868		1953	4151	6104	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33822868G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.354+1G>A	15.37:g.33822868G>A						RYR3_uc010bar.3_Splice_Site_p.M118_splice	p.M118_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	424	+		all_lung(180;7.18e-09)	118			MIR 1.		O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.354_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987738	0.93106	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7474	0.91799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31610160	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.349000	0.97066	2.713000	0.92767	0.655000	0.94253	.		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	A	33822868	G	A	33822868	5	1	244	1	0	0	0	0	0	0	1	0	13770	1275	44	3	369	3	RYR3	15	33822868	Splice_Site	SNP	G	TCGA-41-2573-01A-01D-1495-08		33822868	68708524	45	17341											
MGRN1	23295	broad.mit.edu	37	chr16	4731741	4731741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcctggacagcagccGccagaagggcaggccgcaga	11	2	13	15	2	0	2	0	0	0	2	1	3	1	3	5	3	2	3	5	3	1	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:4731741G>A	ENST00000399577.5	+	13	1415	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	MGRN1_ENST00000262370.7_Missense_Mutation_p.R441H|MGRN1_ENST00000415496.1_Missense_Mutation_p.R420H|MGRN1_ENST00000588994.1_Missense_Mutation_p.R419H|MGRN1_ENST00000586183.1_Missense_Mutation_p.R419H	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	441					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GACAGCAGCCGCCAGAAGGGC	0.662																																						uc002cxa.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1321-1323)cGc>cAc		Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.							16	19	18					16																	4731741		2141	4245	6386	SO:0001583	missense	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4731741G>A	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1322G>A	16.37:g.4731741G>A	ENSP00000382487:p.Arg441His					MGRN1_uc002cwz.3_Missense_Mutation_p.R441H|MGRN1_uc010uxo.2_Missense_Mutation_p.R419H|MGRN1_uc010uxp.2_Missense_Mutation_p.R419H|MGRN1_uc010btw.3_Missense_Mutation_p.R420H|MGRN1_uc010uxq.2_Non-coding_Transcript	p.R441H	NM_015246	NP_056061	O60291	MGRN1_HUMAN			12	1459	+			441					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.1322G>A	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707847	0.15239	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496	T;T;T	0.28255	1.62;1.63;1.62	5.33	-2.61	0.06171	.	0.650563	0.16576	N	0.208387	T	0.09423	0.0232	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.21245	-1.0251	10	0.42905	T	0.14	-5.3845	6.37	0.21475	0.4048:0.0:0.0806:0.5146	.	419;419;420;441;441	O60291-4;O60291-3;E9PB19;O60291-2;O60291	.;.;.;.;MGRN1_HUMAN	H	441;441;420	ENSP00000262370:R441H;ENSP00000382487:R441H;ENSP00000393311:R420H	ENSP00000262370:R441H	R	+	2	0	MGRN1	4671742	0.789000	0.28775	0.059000	0.19551	0.014000	0.08584	1.409000	0.34680	-0.264000	0.09365	-0.339000	0.08088	CGC		0.662	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			A	4731741	G	A	4731741	3	1	244	1	0	0	0	0	1	0	0	0	9559	1087	38	1	1375	1	MGRN1	16	4731741	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		4731741	85623012	46	17342											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472549	67472549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgaaggcatagaagacaCcaaagtggaactggttcagg	15	6	12	8	1	2	2	2	0	0	2	2	4	2	3	1	4	1	2	1	4	5	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:67472549C>T	ENST00000290949.3	-	8	1088	c.938G>A	c.(937-939)gGt>gAt	p.G313D	ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.G236D|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G354D	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	313					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ATAGAAGACACCAAAGTGGAA	0.547																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(1060-1062)gGt>gAt		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							194	166	176					16																	67472549		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472549C>T	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.938G>A	16.37:g.67472549C>T	ENSP00000290949:p.Gly313Asp					ATP6V0D1_uc002ete.1_Missense_Mutation_p.G313D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	p.G354D	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	8	1161	-		Ovarian(137;0.0563)	313					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.1061G>A	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995170	0.74703	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.35236	1.32;1.32	5.11	5.11	0.69529	.	0.049037	0.85682	D	0.000000	T	0.60418	0.2267	M	0.91768	3.24	0.80722	D	1	D;B	0.55800	0.973;0.244	P;B	0.51657	0.676;0.369	T	0.72080	-0.4398	10	0.66056	D	0.02	-8.2802	17.1994	0.86902	0.0:1.0:0.0:0.0	.	354;313	F5GYQ1;P61421	.;VA0D1_HUMAN	D	313;236;354	ENSP00000290949:G313D;ENSP00000441282:G354D	ENSP00000290949:G313D	G	-	2	0	ATP6V0D1	66030050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.397000	0.81536	0.650000	0.86243	GGT		0.547	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		T	67472549	C	T	67472549	3	4	244	1	0	0	0	0	1	0	0	0	1173	507	18	3	121	3	ATP6V0D1	16	67472549	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	62740808	67472549	22882204	47	17343											
FA2H	79152	broad.mit.edu	37	chr16	74750318	74750318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggagcccttgtgcggCgagccaaagtgcaggtagta	10	7	16	8	2	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	4	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:74750318C>T	ENST00000219368.3	-	6	1035	c.966G>A	c.(964-966)tcG>tcA	p.S322S	FA2H_ENST00000544337.1_Silent_p.S109S	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	322					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCTTGTGCGGCGAGCCAAAGT	0.602																																						uc002fde.2																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(964-966)tcG>tcA		Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.							101	82	88					16																	74750318		2198	4300	6498	SO:0001819	synonymous_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750318C>T	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.966G>A	16.37:g.74750318C>T						FA2H_uc002fdd.2_Silent_p.S95S|FA2H_uc010vmy.2_Non-coding_Transcript	p.S322S	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			5	1042	-			322					B7Z8T6|O75213|Q96DK1|Q9H1A5	Silent	SNP	ENST00000219368.3	37	c.966G>A	CCDS10911.1																																																																																				0.602	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		T	74750318	C	T	74750318	2	4	244	1	0	0	0	0	0	0	0	1	5352	755	27	1		1	FA2H	16	74750318	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	7277769	74750318	15604435	48	17344											
USP6	9098	broad.mit.edu	37	chr17	5042870	5042870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggatatagggggccctTggttcccccattatgatttt	7	14	10	10	0	0	1	0	1	0	0	1	2	1	2	4	4	0	1	4	4	3	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:5042870T>A	ENST00000574788.1	+	22	3629	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R	USP6_ENST00000332776.4_Missense_Mutation_p.W467R|USP6_ENST00000304328.5_Missense_Mutation_p.W150R|USP6_ENST00000250066.6_Missense_Mutation_p.W467R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	467					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGGCCCTTGGTTCCCCCA	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1399-1401)Tgg>Agg		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							47	53	51					17																	5042870		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042870T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1399T>A	17.37:g.5042870T>A	ENSP00000460380:p.Trp467Arg					USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|DQ573130_uc002gbd.3_5'Flank	p.W467R	NM_004505	NP_004496	P35125	UBP6_HUMAN			21	3629	+			467					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1399T>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506165	0.26949	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.19669	2.43;2.87;2.13	0.266	0.266	0.15617	.	0.100434	0.64402	D	0.000001	T	0.21509	0.0518	L	0.29908	0.895	0.09310	N	1	D;P	0.54397	0.966;0.943	P;P	0.55667	0.781;0.608	T	0.05954	-1.0854	9	0.52906	T	0.07	.	.	.	.	.	150;467	P35125-2;P35125	.;UBP6_HUMAN	R	467;467;150	ENSP00000328010:W467R;ENSP00000250066:W467R;ENSP00000305473:W150R	ENSP00000250066:W467R	W	+	1	0	USP6	4983594	0.108000	0.22018	0.022000	0.16811	0.021000	0.10359	-0.281000	0.08456	0.330000	0.23485	0.321000	0.21382	TGG		0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5042870	T	A	5042870	3	1	244	1	0	0	0	0	1	0	0	0	17083	1812	63	5	1449	5	USP6	17	5042870	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08		5042870	76152340	49	17345											
MYH1	4619	broad.mit.edu	37	chr17	10412802	10412802	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaaaagcaagccaacCttctcgatgagctcgatgca	13	8	8	12	2	2	1	0	1	2	0	4	3	2	1	2	0	6	4	2	0	4	1	rs369732205		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:10412802C>T	ENST00000226207.5	-	15	1681	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	529	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAAGCCAACCTTCTCGATGA	0.433																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e15+1		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							164	136	146					17																	10412802		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10412802C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1587+1G>A	17.37:g.10412802C>T						AK097500_uc002gml.1_Intron	p.K529_splice	NM_005963	NP_005954	P12882	MYH1_HUMAN			15	1681	-			529			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1587_splice	CCDS11155.1																																																																																				0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Silent	T	10412802	C	T	10412802	5	4	244	1	0	0	0	0	0	0	1	0	10029	695	24	3	4336	3	MYH1	17	10412802	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	5369932	10412802	70782408	50	17346											
FKBP10	60681	broad.mit.edu	37	chr17	39969482	39969482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgggggattttgtgCgctaccactacaacggcact	9	10	12	10	2	0	1	0	0	0	1	0	2	0	2	1	3	5	3	1	3	3	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:39969482C>T	ENST00000321562.4	+	1	300	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	LEPREL4_ENST00000393928.1_5'Flank|LEPREL4_ENST00000355468.3_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	66	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGATTTTGTGCGCTACCACTA	0.627																																						uc002hxv.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(196-198)Cgc>Tgc		Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.							105	113	111					17																	39969482		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39969482C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.196C>T	17.37:g.39969482C>T	ENSP00000317232:p.Arg66Cys					LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	p.R66C	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	0	521	+		Breast(137;0.00122)	66			PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.196C>T	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124865	0.94429	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.86164	-2.08;-2.08	5.54	4.57	0.56435	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.139464	0.48286	D	0.000199	D	0.93848	0.8032	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94533	0.7738	10	0.66056	D	0.02	-19.7766	14.1067	0.65093	0.0:0.9269:0.0:0.0731	.	66	Q96AY3	FKB10_HUMAN	C	66;6;66;66	ENSP00000408232:R6C;ENSP00000317232:R66C	ENSP00000269598:R66C	R	+	1	0	FKBP10	37223008	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	1.347000	0.45714	0.655000	0.94253	CGC		0.627	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		T	39969482	C	T	39969482	3	4	244	1	0	0	0	0	1	0	0	0	5902	768	27	1	198	1	FKBP10	17	39969482	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	29556680	39969482	41225728	51	17347											
PPM1D	8493	broad.mit.edu	37	chr17	58725371	58725371	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatattggggagtgatggActttggaatatgattccacc	11	14	11	5	0	0	2	0	2	0	0	1	5	1	5	2	4	0	0	2	4	4	6			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:58725371A>T	ENST00000305921.3	+	4	1177	c.945A>T	c.(943-945)ggA>ggT	p.G315G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	315	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAGTGATGGACTTTGGAATA	0.413																																						uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(943-945)ggA>ggT		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.							133	118	123					17																	58725371		2203	4300	6503	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58725371A>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.945A>T	17.37:g.58725371A>T						PPM1D_uc010ddm.2_Non-coding_Transcript	p.G315G	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		3	1177	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		315			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.945A>T	CCDS11625.1																																																																																				0.413	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		T	58725371	A	T	58725371	2	4	244	1	0	0	0	0	0	0	0	1	12337	262	10	5		5	PPM1D	17	58725371	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08	18755889	58725371	22469839	52	17348											
DNAH17	9489	broad.mit.edu	37	chr17	76420172	76420172	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaagatgacaggcatggCcggggtcagctctttcagcc	9	8	14	10	1	3	3	2	2	1	1	3	4	3	3	2	4	2	2	2	4	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:76420172C>T	ENST00000262764.6	+	0	1738				AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000585328.1_Missense_Mutation_p.A4397T|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A4425T|PGS1_ENST00000329897.7_3'UTR|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.A4397T(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ACAGGCATGGCCGGGGTCAGC	0.602																																					Esophageal Squamous(45;182 1126 10685 43198)	uc010dhp.2																			1	Substitution - Missense(1)	p.A4397T(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13204-13206)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							79	78	78					17																	76420172		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8632							g.chr17:76420172C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.*41C>T	17.37:g.76420172C>T						PGS1_uc002jvm.3_3'UTR|PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_3'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|DNAH17_uc002jvq.3_Missense_Mutation_p.A687T|DNAH17_uc002jvs.3_Non-coding_Transcript	p.A4402T	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13329	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13204G>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368481	0.24771	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08634	3.07	5.23	3.16	0.36331	.	0.621363	0.15258	N	0.271922	T	0.05044	0.0135	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.19148	0.024	T	0.37731	-0.9693	10	0.24483	T	0.36	.	3.7712	0.08642	0.1132:0.5319:0.1977:0.1572	.	4397	E7EUM8	.	T	4397;4425	ENSP00000374490:A4425T	ENSP00000300671:A4397T	A	-	1	0	DNAH17	73931767	0.025000	0.19082	0.911000	0.35937	0.890000	0.51754	0.233000	0.17911	1.431000	0.47355	0.655000	0.94253	GCC		0.602	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		T	76420172	C	T	76420172	1	4	244	0	1	0	0	0	0	0	0	0	4601	739	26	3		3	DNAH17	17	76420172	3'UTR	SNP	C	TCGA-41-2573-01A-01D-1495-08	17694801	76420172	4775038	53	17349											
KIAA1012	22878	broad.mit.edu	37	chr18	29435678	29435678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcctcctctgccttctTcattttcaagagaattactt	8	18	4	11	0	4	1	2	0	2	1	5	2	5	1	3	0	3	0	3	0	4	8			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr18:29435678T>C	ENST00000283351.4	-	21	3616	c.3281A>G	c.(3280-3282)gAa>gGa	p.E1094G	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1040G	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1094					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTGCCTTCTTCATTTTCAAG	0.353																																						uc002kxc.4																			0		p.N1093K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3280-3282)gAa>gGa		Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.							99	98	98					18																	29435678		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29435678T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3281A>G	18.37:g.29435678T>C	ENSP00000283351:p.Glu1094Gly					TRAPPC8_uc002kxb.4_Missense_Mutation_p.E1040G|TRAPPC8_uc002kxd.4_Non-coding_Transcript	p.E1094G	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			20	3645	-			1094					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3281A>G	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269167	0.40095	.	.	ENSG00000153339	ENST00000283351	T	0.19105	2.17	5.61	5.61	0.85477	.	0.235255	0.46758	D	0.000276	T	0.18551	0.0445	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.03684	-1.1013	10	0.26408	T	0.33	.	16.0875	0.81068	0.0:0.0:0.0:1.0	.	1094	Q9Y2L5	TPPC8_HUMAN	G	1094	ENSP00000283351:E1094G	ENSP00000283351:E1094G	E	-	2	0	TRAPPC8	27689676	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.329000	0.59260	2.258000	0.74832	0.477000	0.44152	GAA		0.353	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29435678	T	C	29435678	3	2	244	1	0	0	0	0	1	0	0	0	8204	1783	62	4	1062	4	KIAA1012	18	29435678	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08		29435678	48641570	54	17350											
GDF5	8200	broad.mit.edu	37	chr20	34022173	34022173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcccgtttcttggtgCggccaaacaccaggaacagg	10	7	12	12	2	1	0	0	0	1	0	2	1	2	1	3	5	3	1	3	5	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:34022173C>T	ENST00000374372.1	-	4	1543	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GDF5_ENST00000374369.3_Missense_Mutation_p.R347H|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R73W			P43026	GDF5_HUMAN	growth differentiation factor 5	347					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTTCTTGGTGCGGCCAAACAC	0.632																																						uc010gfc.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(1039-1041)cGc>cAc		Homo sapiens growth differentiation factor 5 (GDF5), mRNA.							49	49	49					20																	34022173		2203	4298	6501	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022173C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1040G>A	20.37:g.34022173C>T	ENSP00000363492:p.Arg347His					GDF5OS_uc002xcj.3_Missense_Mutation_p.A195V|GDF5_uc002xck.1_Missense_Mutation_p.R347H	p.R347H	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		1	1281	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		347					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.1040G>A	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581801|3.581801	0.65992|0.65992	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.81078|.	-1.45;-1.45|.	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.52240|0.52240	0.1722|0.1722	N|N	0.12182|0.12182	0.205|0.205	0.58432|0.58432	D|D	0.999998|0.999998	P;D|.	0.56746|.	0.909;0.977|.	B;B|.	0.43225|.	0.233;0.412|.	T|T	0.62506|0.62506	-0.6840|-0.6840	10|7	0.31617|0.87932	T|D	0.26|0	.|.	17.3838|17.3838	0.87411|0.87411	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	347;347|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	H|W	347|73	ENSP00000363489:R347H;ENSP00000363492:R347H|.	ENSP00000363489:R347H|ENSP00000363495:R73W	R|R	-|+	2|1	0|2	GDF5|GDF5OS	33485587|33485587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.534000|2.534000	0.45676|0.45676	2.311000|2.311000	0.77944|0.77944	0.491000|0.491000	0.48974|0.48974	CGC|CGG		0.632	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			T	34022173	C	T	34022173	3	4	244	1	0	0	0	0	1	0	0	0	6316	768	27	1	469	1	GDF5	20	34022173	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		34022173	29003347	55	17351											
LAMA5	3911	broad.mit.edu	37	chr20	60900398	60900398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccccccggtagctggCggggcacaggcacagctcca	7	5	14	15	2	0	1	0	1	0	0	2	1	2	1	4	5	2	5	4	5	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:60900398C>T	ENST00000252999.3	-	41	5569	c.5503G>A	c.(5503-5505)Gcc>Acc	p.A1835T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1835	Laminin EGF-like 16; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGTAGCTGGCGGGGCACAGG	0.672																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(5503-5505)Gcc>Acc		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						27	28	28					20																	60900398		2202	4297	6499	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60900398C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5503G>A	20.37:g.60900398C>T	ENSP00000252999:p.Ala1835Thr					LAMA5_uc021wfw.1_Missense_Mutation_p.A1835T	p.A1835T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		40	5570	-	Breast(26;1.57e-08)		1835			Laminin EGF-like 16; second part.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.5503G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508773	0.85282	.	.	ENSG00000130702	ENST00000252999	T	0.61510	0.1	4.84	4.84	0.62591	EGF-like, laminin (2);EGF-like region, conserved site (1);	0.053861	0.64402	D	0.000001	T	0.69637	0.3133	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.67150	-0.5743	10	0.31617	T	0.26	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	1835	O15230	LAMA5_HUMAN	T	1835	ENSP00000252999:A1835T	ENSP00000252999:A1835T	A	-	1	0	LAMA5	60333793	0.998000	0.40836	0.999000	0.59377	0.841000	0.47740	3.888000	0.56204	2.220000	0.72140	0.555000	0.69702	GCC		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60900398	C	T	60900398	3	4	244	1	0	0	0	0	1	0	0	0	8609	768	27	1	5744	1	LAMA5	20	60900398	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	26878225	60900398	2125122	56	17352											
LRRC47	57470	broad.mit.edu	37	chr1	3699235	3699235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctacctttgtcttcTcactgttggttattggtggg	4	16	10	11	0	2	0	1	0	2	0	3	0	2	0	3	3	1	2	3	3	2	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:3699235T>C	ENST00000378251.1	-	5	1430	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	468							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTTGTCTTCTCACTGTTGGT	0.483																																						uc001akx.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1402-1404)gAg>gGg		Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.							165	122	137					1																	3699235		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3699235T>C	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1403A>G	1.37:g.3699235T>C	ENSP00000367498:p.Glu468Gly						p.E468G	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	4	1431	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	468					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1403A>G	CCDS51.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188494	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.48522	0.81	4.63	4.63	0.57726	B3/B4 tRNA-binding domain (2);	0.214361	0.47852	D	0.000217	T	0.67277	0.2876	M	0.92738	3.34	0.80722	D	1	D	0.56968	0.978	P	0.51974	0.686	T	0.77191	-0.2678	10	0.72032	D	0.01	-24.5373	13.2059	0.59795	0.0:0.0:0.0:1.0	.	468	Q8N1G4	LRC47_HUMAN	G	468	ENSP00000367498:E468G	ENSP00000367498:E468G	E	-	2	0	LRRC47	3689095	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.580000	0.82523	1.720000	0.51447	0.260000	0.18958	GAG		0.483	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		C	3699235	T	C	3699235	3	2	245	1	0	0	0	0	1	0	0	0	9004	1551	54	4	360	4	LRRC47	1	3699235	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08		3699235	245551386	1	17353											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837263	12837263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtcagctaaaagagctaGacctgaggggcatcacactg	12	7	11	11	1	2	3	2	1	0	2	3	3	3	3	2	2	2	3	2	2	3	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:12837263G>C	ENST00000357726.4	+	3	1000	c.973G>C	c.(973-975)Gac>Cac	p.D325H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	325					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAGAGCTAGACCTGAGGGG	0.577																																						uc001aui.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(973-975)Gac>Cac		Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.							103	106	105					1																	12837263		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837263G>C		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.973G>C	1.37:g.12837263G>C	ENSP00000350358:p.Asp325His						p.D325H	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1000	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	325						Missense_Mutation	SNP	ENST00000357726.4	37	c.973G>C	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.300936	0.23650	.	.	ENSG00000116726	ENST00000357726	T	0.56275	0.47	2.83	-4.44	0.03557	.	1.626250	0.03949	N	0.288191	T	0.60573	0.2279	M	0.64567	1.98	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.56649	-0.7944	10	0.33141	T	0.24	.	0.3197	0.00301	0.2835:0.142:0.2884:0.2861	.	325	O95522	PRA12_HUMAN	H	325	ENSP00000350358:D325H	ENSP00000350358:D325H	D	+	1	0	PRAMEF12	12759850	0.003000	0.15002	0.000000	0.03702	0.177000	0.22998	-0.344000	0.07780	-1.150000	0.02840	0.205000	0.17691	GAC		0.577	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		C	12837263	G	C	12837263	3	2	245	1	0	0	0	0	1	0	0	0	12428	942	33	5	983	5	PRAMEF12	1	12837263	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	9138028	12837263	236413358	2	17354											
FHL3	2275	broad.mit.edu	37	chr1	38464646	38464646	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcccctgaacacatacCaggcatgacagtctccccac	12	6	7	16	0	1	3	0	3	1	0	2	3	1	3	5	1	3	1	5	1	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:38464646C>T	ENST00000373016.3	-	3	499	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	111	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAACACATACCAGGCATGACA	0.527																																						uc001cck.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.e3+1		Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.							59	54	56					1																	38464646		2203	4300	6503	SO:0001630	splice_region_variant	2275				muscle organ development		zinc ion binding	g.chr1:38464646C>T	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.331+1G>A	1.37:g.38464646C>T						FHL3_uc001ccm.3_Splice_Site_p.G3_splice|FHL3_uc009vvl.2_Splice_Site_p.G111_splice	p.G111_splice	NM_004468	NP_004459	Q13643	FHL3_HUMAN			3	510	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	111			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.331_splice	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217286	0.79352	.	.	ENSG00000183386	ENST00000373016	D	0.86366	-2.11	5.94	5.94	0.96194	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95443	0.8527	10	0.87932	D	0	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	111;3;111	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	R	111	ENSP00000362107:G111R	ENSP00000362107:G111R	G	-	1	0	FHL3	38237233	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GGG		0.527	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468	Missense_Mutation	T	38464646	C	T	38464646	5	4	245	1	0	0	0	0	0	0	1	0	5880	608	21	3	527	3	FHL3	1	38464646	Splice_Site	SNP	C	TCGA-41-2575-01A-01D-1495-08	25627383	38464646	210785975	3	17355											
CDCP2	200008	broad.mit.edu	37	chr1	54605733	54605733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggagctggggtactgtggGctggagaagttgccccgcat	7	9	17	8	1	0	1	0	0	0	1	0	3	0	2	2	5	3	5	2	5	3	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:54605733G>A	ENST00000371330.1	-	4	1657	c.810C>T	c.(808-810)agC>agT	p.S270S	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	270	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGTACTGTGGGCTGGAGAAGT	0.617																																						uc001cwv.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(808-810)agC>agT		Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.							47	38	41					1																	54605733		2198	4287	6485	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54605733G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.810C>T	1.37:g.54605733G>A							p.S270S	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1658	-			270			CUB 3.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.810C>T	CCDS588.2																																																																																				0.617	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		A	54605733	G	A	54605733	2	1	245	1	0	0	0	0	0	0	0	1	3094	1194	42	3		3	CDCP2	1	54605733	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	16141087	54605733	194644888	4	17356											
RPF1	80135	broad.mit.edu	37	chr1	84962001	84962001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttaaaattaaggtctcTtcagaaaggaacctttgatt	14	14	6	7	0	2	2	1	1	1	1	3	3	2	3	2	2	2	0	2	2	6	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:84962001T>C	ENST00000370654.5	+	8	971	c.956T>C	c.(955-957)cTt>cCt	p.L319P	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	319	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.|RNA-binding. {ECO:0000250}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTAAGGTCTCTTCAGAAAGGA	0.323																																						uc001djv.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(955-957)cTt>cCt		Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.							81	85	84					1																	84962001		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84962001T>C	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.956T>C	1.37:g.84962001T>C	ENSP00000359688:p.Leu319Pro						p.L319P	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			7	1001	+			319			Brix.|RNA-binding (By similarity).		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.956T>C	CCDS695.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428503	0.83667	.	.	ENSG00000117133	ENST00000370654	T	0.50813	0.73	6.07	6.07	0.98685	Brix domain (2);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80299	-0.1441	10	0.87932	D	0	-20.8645	16.6407	0.85098	0.0:0.0:0.0:1.0	.	319	Q9H9Y2	RPF1_HUMAN	P	319	ENSP00000359688:L319P	ENSP00000359688:L319P	L	+	2	0	RPF1	84734589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.679000	0.84048	2.326000	0.78906	0.533000	0.62120	CTT		0.323	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		C	84962001	T	C	84962001	3	2	245	1	0	0	0	0	1	0	0	0	13546	1609	56	4	986	4	RPF1	1	84962001	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	30356268	84962001	164288620	5	17357											
FLG	2312	broad.mit.edu	37	chr1	152282534	152282534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagccgactcagaccGcctctcagagtcttctgagt	8	10	10	13	2	5	3	2	1	4	2	6	5	5	4	3	1	1	0	3	1	1	1	rs560805546		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:152282534G>A	ENST00000368799.1	-	3	4863	c.4828C>T	c.(4828-4830)Cgg>Tgg	p.R1610W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1610	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGACCGCCTCTCAGAG	0.572									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4828-4830)Cgg>Tgg		Homo sapiens filaggrin (FLG), mRNA.							122	134	130					1																	152282534		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282534G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4828C>T	1.37:g.152282534G>A	ENSP00000357789:p.Arg1610Trp						p.R1610W	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4864	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1610			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4828C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.678	-0.276111	0.05679	.	.	ENSG00000143631	ENST00000368799	T	0.01804	4.63	2.33	1.4	0.22301	.	.	.	.	.	T	0.00412	0.0013	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47045	-0.9147	9	0.56958	D	0.05	.	5.2441	0.15487	0.1716:0.0:0.8284:0.0	.	1610	P20930	FILA_HUMAN	W	1610	ENSP00000357789:R1610W	ENSP00000357789:R1610W	R	-	1	2	FLG	150549158	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.151000	0.10175	0.532000	0.28657	-0.443000	0.05667	CGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152282534	G	A	152282534	3	1	245	1	0	0	0	0	1	0	0	0	5922	1086	38	1	7361	1	FLG	1	152282534	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	67320533	152282534	96968087	6	17358											
NCSTN	23385	broad.mit.edu	37	chr1	160318815	160318815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtggagacacaggggttAtccacgtagtagagaaagag	14	8	14	5	1	0	3	0	0	0	3	1	5	1	3	1	3	0	3	1	3	5	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:160318815A>G	ENST00000294785.5	+	3	342	c.217A>G	c.(217-219)Atc>Gtc	p.I73V	NCSTN_ENST00000392212.4_Missense_Mutation_p.I53V|NCSTN_ENST00000535857.1_Missense_Mutation_p.I73V|NCSTN_ENST00000368065.4_5'Flank|NCSTN_ENST00000368063.1_Missense_Mutation_p.I53V	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	73					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGGGTTATCCACGTAGT	0.468																																						uc001fvx.3																			0		p.I73N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(217-219)Atc>Gtc		Homo sapiens nicastrin (NCSTN), mRNA.							115	114	115					1																	160318815		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160318815A>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.217A>G	1.37:g.160318815A>G	ENSP00000294785:p.Ile73Val					NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_Missense_Mutation_p.I53V|NCSTN_uc010pjf.2_Missense_Mutation_p.I73V|NCSTN_uc010pjg.2_5'Flank	p.I73V	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	341	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		73					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.217A>G	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047761	0.19827	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.75938	-0.98;-0.95;-0.23;-0.07;-0.02;-0.11;-0.95	5.08	5.08	0.68730	.	0.146153	0.46758	D	0.000265	T	0.40372	0.1114	N	0.16656	0.425	0.38260	D	0.941853	B;B;B	0.26672	0.106;0.126;0.156	B;B;B	0.25614	0.062;0.039;0.056	T	0.38802	-0.9644	10	0.17369	T	0.5	-23.8922	12.2431	0.54555	1.0:0.0:0.0:0.0	.	73;53;73	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	V	73;53;73;73;73;106;53	ENSP00000294785:I73V;ENSP00000357042:I53V;ENSP00000415442:I73V;ENSP00000390409:I73V;ENSP00000442605:I73V;ENSP00000389370:I106V;ENSP00000376047:I53V	ENSP00000294785:I73V	I	+	1	0	NCSTN	158585439	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	2.425000	0.44723	1.910000	0.55303	0.533000	0.62120	ATC		0.468	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		G	160318815	A	G	160318815	3	3	245	1	0	0	0	0	1	0	0	0	10241	449	16	4	227	4	NCSTN	1	160318815	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	8036281	160318815	88931806	7	17359											
RYR2	6262	broad.mit.edu	37	chr1	237780610	237780610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctactgcttcagtacctcTgtgactgccaggtccggcac	6	10	10	15	1	2	1	1	1	1	0	3	1	3	1	4	2	4	3	4	2	2	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:237780610T>C	ENST00000366574.2	+	38	6057	c.5740T>C	c.(5740-5742)Tgt>Cgt	p.C1914R	RYR2_ENST00000542537.1_Missense_Mutation_p.C1898R|RYR2_ENST00000360064.6_Missense_Mutation_p.C1912R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1914	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGTACCTCTGTGACTGCCA	0.398																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5740-5742)Tgt>Cgt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							48	42	44					1																	237780610		1876	4122	5998	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780610T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5740T>C	1.37:g.237780610T>C	ENSP00000355533:p.Cys1914Arg						p.C1914R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5860	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1914			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5740T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242218	0.79912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73152	-0.72;-0.72;-0.72	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	D	0.83663	0.5303	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85926	0.1449	10	0.87932	D	0	.	15.4156	0.74966	0.0:0.0:0.0:1.0	.	1914	Q92736	RYR2_HUMAN	R	1914;1912;1898	ENSP00000355533:C1914R;ENSP00000353174:C1912R;ENSP00000443798:C1898R	ENSP00000353174:C1912R	C	+	1	0	RYR2	235847233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.036000	0.60181	0.528000	0.53228	TGT		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237780610	T	C	237780610	3	2	245	1	0	0	0	0	1	0	0	0	13769	1580	55	4	5890	4	RYR2	1	237780610	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	77461795	237780610	11470011	8	17360											
TMEM214	54867	broad.mit.edu	37	chr2	27263616	27263616	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatgaagacacagctcAgtgaggctgtccactggacc	11	7	11	12	0	1	3	1	2	0	1	2	4	2	4	2	2	2	3	2	2	1	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:27263616A>T	ENST00000238788.9	+	17	2043	c.1981A>T	c.(1981-1983)Agt>Tgt	p.S661C	TMEM214_ENST00000404032.3_Missense_Mutation_p.S616C	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	661					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACACAGCTCAGTGAGGCTGT	0.532																																						uc002ria.4																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1981-1983)Agt>Tgt		Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.							98	100	99					2																	27263616		2103	4223	6326	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27263616A>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1981A>T	2.37:g.27263616A>T	ENSP00000238788:p.Ser661Cys					TMEM214_uc002rib.4_Missense_Mutation_p.S616C	p.S661C	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			16	2091	+			661					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1981A>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829413	0.50845	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.49720	0.77;0.77	5.62	-1.13	0.09775	.	0.484707	0.23194	N	0.050867	T	0.50429	0.1615	L	0.57536	1.79	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.56823	0.771;0.807	T	0.45175	-0.9279	10	0.66056	D	0.02	-0.0689	5.5763	0.17225	0.5739:0.1346:0.2915:0.0	.	616;661	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	C	661;616;401	ENSP00000238788:S661C;ENSP00000384417:S616C	ENSP00000238788:S661C	S	+	1	0	TMEM214	27117120	0.015000	0.18098	0.039000	0.18376	0.526000	0.34562	0.238000	0.18004	-0.419000	0.07439	0.454000	0.30748	AGT		0.532	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		T	27263616	A	T	27263616	3	4	245	1	0	0	0	0	1	0	0	0	16134	188	7	5	2047	5	TMEM214	2	27263616	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		27263616	215935757	9	17361											
THSD7B	80731	broad.mit.edu	37	chr2	138421119	138421119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatacatgatatttttaaagGatggtctcttcaaccacttg	13	15	6	7	0	2	1	1	1	1	0	3	2	2	2	1	2	2	0	1	2	6	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:138421119G>T	ENST00000409968.1	+	26	4803	c.4625G>T	c.(4624-4626)gGa>gTa	p.G1542V	THSD7B_ENST00000272643.3_Missense_Mutation_p.G1545V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1514V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1544						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTTAAAGGATGGTCTCTT	0.368																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4534-4536)gGa>gTa		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							37	35	36					2																	138421119		1800	4076	5876	SO:0001583	missense	80731							g.chr2:138421119G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4625G>T	2.37:g.138421119G>T	ENSP00000387145:p.Gly1542Val					THSD7B_uc010zbj.1_Non-coding_Transcript	p.G1512V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	24	4535	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4535G>T		.	.	.	.	.	.	.	.	.	.	.	15.09	2.730025	0.48939	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23348	2.43;2.3;1.91	6.01	4.13	0.48395	.	0.162190	0.56097	D	0.000035	T	0.36054	0.0953	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.58660	0.843	T	0.13818	-1.0495	10	0.72032	D	0.01	.	11.4043	0.49889	0.0674:0.1267:0.8059:0.0	.	1514	C9JKN6	.	V	1542;1545;1514	ENSP00000387145:G1542V;ENSP00000272643:G1545V;ENSP00000413841:G1514V	ENSP00000272643:G1545V	G	+	2	0	THSD7B	138137589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.005000	0.70716	1.562000	0.49601	0.644000	0.83932	GGA		0.368	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	138421119	G	T	138421119	3	4	245	1	0	0	0	0	1	0	0	0	15877	1174	41	5	4635	5	THSD7B	2	138421119	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	111157503	138421119	104778254	10	17362											
SCN3A	6328	broad.mit.edu	37	chr2	165996030	165996030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgctcacggctcttTgccttccagaggaatcctcc	6	12	9	14	1	2	1	1	0	1	1	5	2	5	2	4	3	2	3	4	3	2	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:165996030T>C	ENST00000360093.3	-	14	2599	c.2108A>G	c.(2107-2109)cAa>cGa	p.Q703R	SCN3A_ENST00000283254.7_Missense_Mutation_p.Q703R|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q654R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	703					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGGCTCTTTGCCTTCCAGA	0.463																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2107-2109)cAa>cGa		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						167	143	151					2																	165996030		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165996030T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2108A>G	2.37:g.165996030T>C	ENSP00000353206:p.Gln703Arg					SCN3A_uc002ucy.3_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	p.Q703R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2600	-			703					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2108A>G		.	.	.	.	.	.	.	.	.	.	T	18.02	3.530645	0.64860	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96011	-2.7;-2.7;-3.88;-3.75	5.65	5.65	0.86999	Domain of unknown function DUF3451 (1);	0.097992	0.45867	D	0.000336	D	0.97430	0.9159	M	0.83692	2.655	0.80722	D	1	P;B;B;B;P	0.48998	0.918;0.131;0.008;0.008;0.899	P;B;B;B;B	0.59825	0.864;0.039;0.022;0.022;0.408	D	0.98025	1.0373	10	0.72032	D	0.01	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	703;654;654;654;703	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	703;703;654;654	ENSP00000353206:Q703R;ENSP00000283254:Q703R;ENSP00000386726:Q654R;ENSP00000403348:Q654R	ENSP00000283254:Q703R	Q	-	2	0	SCN3A	165704276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.272000	0.75746	0.460000	0.39030	CAA		0.463	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	165996030	T	C	165996030	3	2	245	1	0	0	0	0	1	0	0	0	13918	1812	63	4	3954	4	SCN3A	2	165996030	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	27574911	165996030	77203343	11	17363											
TTN	7273	broad.mit.edu	37	chr2	179610349	179610349	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaaagctctcagccattCctgatttgtttgtagctaca	9	14	7	11	0	1	1	1	1	1	0	3	1	2	1	2	0	5	5	2	0	3	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:179610349C>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G5593V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGCCATTCCTGATTTGTT	0.378																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87	81	83					2																	179610349		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610349C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3701G>T	2.37:g.179610349C>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G5593V		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	17.76	3.468475	0.63625	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.75050	-0.9	6.17	6.17	0.99709	.	.	.	.	.	D	0.92848	0.7725	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94662	0.7849	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5593	Q8WZ42-6	.	V	5593;874	ENSP00000354117:G5593V	ENSP00000304714:G874V	G	-	2	0	TTN	179318594	1.000000	0.71417	0.857000	0.33713	0.656000	0.38851	7.174000	0.77620	2.941000	0.99782	0.655000	0.94253	GGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179610349	C	A	179610349	1	1	245	0	1	0	0	0	0	0	0	0	16732	855	30	5		5	TTN	2	179610349	Intron	SNP	C	TCGA-41-2575-01A-01D-1495-08	13614319	179610349	63589024	12	17364											
DNAJC10	54431	broad.mit.edu	37	chr2	183597246	183597246	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtttgacttcacagacaCgactcaggcttagtggcatg	10	12	10	9	1	2	2	2	1	0	1	2	3	2	2	0	2	0	3	0	2	1	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:183597246C>T	ENST00000264065.7	+	10	1241	c.826C>T	c.(826-828)Cga>Tga	p.R276*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R276*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	276	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCACAGACACGACTCAGGCT	0.348																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(826-828)Cga>Tga		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.							147	142	144					2																	183597246		2203	4300	6503	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183597246C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.826C>T	2.37:g.183597246C>T	ENSP00000264065:p.Arg276*					DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	p.R276*	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		9	1241	+			276					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.826C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373645	0.82573	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	.	.	.	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4538	0.61187	0.2844:0.7156:0.0:0.0	.	.	.	.	X	276	.	ENSP00000264065:R276X	R	+	1	2	DNAJC10	183305491	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.268000	0.43338	1.433000	0.47394	0.655000	0.94253	CGA		0.348	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		T	183597246	C	T	183597246	4	4	245	1	0	0	0	0	0	1	0	0	4629	528	19	1	856	1	DNAJC10	2	183597246	Nonsense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	3986897	183597246	59602127	13	17365											
MOBKL3	25843	broad.mit.edu	37	chr2	198415097	198415097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcatcatcggcagatatTtgatgaatatgaagtaagta	14	15	8	4	1	2	4	2	3	0	1	3	4	2	4	0	1	0	3	0	1	6	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198415097T>C	ENST00000323303.4	+	7	788	c.533T>C	c.(532-534)tTt>tCt	p.F178S	MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000409360.1_Missense_Mutation_p.F146S|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.F214S|MOB4_ENST00000409916.1_Missense_Mutation_p.F79S|MOB4_ENST00000233892.4_Missense_Mutation_p.F146S|MOB4_ENST00000448447.2_Missense_Mutation_p.F157S	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	178					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										CGGCAGATATTTGATGAATAT	0.313																																						uc021vum.1																			0											c.(640-642)tTt>tCt		Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.							100	101	101					2																	198415097		2203	4300	6503	SO:0001583	missense	25843							g.chr2:198415097T>C	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"MOB kinase activators"	17261	protein-coding gene	gene with protein product	"phocein", "phocein, Mob-like protein"	609361	"preimplantation protein 3", "MOB1, Mps One Binder kinase activator-like 3 (yeast)"	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.533T>C	2.37:g.198415097T>C	ENSP00000315702:p.Phe178Ser					HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.F146S|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.F178S|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.F157S|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.F79S|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.F79S|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.F146S	p.F214S	NM_001202485	NP_001189414					7	1081	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.641T>C	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916137	0.73098	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.93720	3.45	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.72982	0.951;0.979	D	0.89689	0.3896	9	0.87932	D	0	.	15.5923	0.76543	0.0:0.0:0.0:1.0	.	157;178	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	S	146;79;178;157;146	.	ENSP00000233892:F146S	F	+	2	0	PHOCN	198123342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.323000	0.78572	0.528000	0.53228	TTT		0.313	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		C	198415097	T	C	198415097	3	2	245	1	0	0	0	0	1	0	0	0	9687	1841	64	4	559	4	MOBKL3	2	198415097	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	14817851	198415097	44784276	14	17366											
PLCL1	5334	broad.mit.edu	37	chr2	198950332	198950332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttatgttctaaggccGtctataatgcgagatgaagt	10	14	12	5	2	2	2	0	1	2	1	2	3	2	2	1	2	1	2	1	2	5	5	rs147854527		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198950332G>A	ENST00000428675.1	+	2	2489	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P	PLCL1_ENST00000437704.2_Silent_p.P599P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	697	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTAAGGCCGTCTATAATGC	0.458													G|||	1	0.000199681	0	0	5008	,	,		19054	0.001		0	False		,,,				2504	0					uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2089-2091)ccG>ccA		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						91	91	91					2																	198950332		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950332G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2091G>A	2.37:g.198950332G>A						PLCL1_uc002uuv.4_Silent_p.P618P	p.P697P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	2489	+			697			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2091G>A	CCDS2326.2																																																																																				0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		A	198950332	G	A	198950332	2	1	245	1	0	0	0	0	0	0	0	1	12039	1132	40	1		1	PLCL1	2	198950332	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	535235	198950332	44249041	15	17367											
ZDBF2	57683	broad.mit.edu	37	chr2	207174816	207174816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttagggaaggtcgttTccactgttactttgatgatg	8	15	13	5	1	0	2	0	2	0	0	2	4	1	4	1	3	1	3	1	3	3	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:207174816T>G	ENST00000374423.3	+	5	5950	c.5564T>G	c.(5563-5565)tTc>tGc	p.F1855C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1855							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGGTCGTTTCCACTGTTAC	0.418																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5563-5565)tTc>tGc		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							79	75	76					2																	207174816		1881	4114	5995	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174816T>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5564T>G	2.37:g.207174816T>G	ENSP00000363545:p.Phe1855Cys						p.F1855C	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	5814	+			1855					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5564T>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812902	0.70912	.	.	ENSG00000204186	ENST00000374423	T	0.60672	0.17	5.48	4.29	0.51040	.	.	.	.	.	T	0.68979	0.3060	L	0.50333	1.59	0.34529	D	0.709006	D	0.89917	1.0	D	0.79108	0.992	T	0.77661	-0.2504	9	0.87932	D	0	.	11.6856	0.51483	0.1328:0.0:0.0:0.8672	.	1855	Q9HCK1	ZDBF2_HUMAN	C	1855	ENSP00000363545:F1855C	ENSP00000363545:F1855C	F	+	2	0	ZDBF2	206883061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.816000	0.48026	0.886000	0.36113	0.451000	0.29950	TTC		0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207174816	T	G	207174816	3	3	245	1	0	0	0	0	1	0	0	0	17596	1783	62	5	5574	5	ZDBF2	2	207174816	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	8224484	207174816	36024557	16	17368											
FBLN2	2199	broad.mit.edu	37	chr3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcctgcgcatatcttccGcattggccccgcgccagcct	4	9	11	17	4	1	0	0	0	1	0	2	0	2	0	6	2	3	2	6	2	1	3	rs369694803		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:13679178G>A	ENST00000295760.7	+	17	3383	c.3314G>A	c.(3313-3315)cGc>cAc	p.R1105H	FBLN2_ENST00000404922.3_Missense_Mutation_p.R1152H|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1152H|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1131H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1105	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3454-3456)cGc>cAc		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4325		0,1,2162	44	49	47		3455,3455,3314	4.7	1	3		47	0,8522		0,0,4261	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	29,29,29	0,1,6423	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging,probably-damaging,probably-damaging	1152/1232,1152/1232,1105/1185	13679178	1,12847	2163	4261	6424	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679178G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3314G>A	3.37:g.13679178G>A	ENSP00000295760:p.Arg1105His					FBLN2_uc011auz.2_Missense_Mutation_p.R1131H|FBLN2_uc011avb.2_Missense_Mutation_p.R1105H|FBLN2_uc011ava.2_Missense_Mutation_p.R1152H	p.R1152H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3837	+			1105			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3455G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896010	0.91962	2.31E-4	0.0	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80909	-1.43;-1.43;-1.34;-1.43	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89167	0.3534	10	0.45353	T	0.12	.	17.9076	0.88923	0.0:0.0:1.0:0.0	.	1105;1152;1131	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	H	1131;1152;1105;1152	ENSP00000445705:R1131H;ENSP00000384169:R1152H;ENSP00000295760:R1105H;ENSP00000420042:R1152H	ENSP00000295760:R1105H	R	+	2	0	FBLN2	13654179	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.569000	0.98170	2.456000	0.83038	0.563000	0.77884	CGC		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13679178	G	A	13679178	3	1	245	1	0	0	0	0	1	0	0	0	5699	1087	38	1	2211	1	FBLN2	3	13679178	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		13679178	184343252	17	17369											
CASR	846	broad.mit.edu	37	chr3	121981197	121981197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagatatatatacctgcttaCctgggagagggctcttcacc	11	11	9	10	0	2	2	1	0	1	2	2	3	2	2	3	2	3	2	3	2	6	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:121981197C>A	ENST00000490131.1	+	4	1687	c.1315C>A	c.(1315-1317)Cct>Act	p.P439T	CASR_ENST00000498619.1_Missense_Mutation_p.P439T|CASR_ENST00000296154.5_Missense_Mutation_p.P439T	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	439					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACCTGCTTACCTGGGAGAGG	0.453																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1315-1317)Cct>Act		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						100	99	100					3																	121981197		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121981197C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1315C>A	3.37:g.121981197C>A	ENSP00000418685:p.Pro439Thr					CASR_uc003eev.4_Missense_Mutation_p.P439T	p.P439T	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	1753	+			439					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1315C>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871401	0.51695	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.84873	-1.91;-1.91;-1.91	5.77	4.89	0.63831	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.50919	1.6	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.977	D	0.90356	0.4370	10	0.52906	T	0.07	.	15.8924	0.79309	0.0:0.8644:0.1356:0.0	.	439;439	E7ENE0;P41180	.;CASR_HUMAN	T	439	ENSP00000418685:P439T;ENSP00000420194:P439T;ENSP00000296154:P439T	ENSP00000296154:P439T	P	+	1	0	CASR	123463887	1.000000	0.71417	0.966000	0.40874	0.806000	0.45545	7.818000	0.86416	1.415000	0.47037	0.655000	0.94253	CCT		0.453	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	121981197	C	A	121981197	3	1	245	1	0	0	0	0	1	0	0	0	2682	507	18	5	1325	5	CASR	3	121981197	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	108302019	121981197	76041233	18	17370											
FETUB	26998	broad.mit.edu	37	chr3	186362631	186362631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctggaggctgccacCgagtctcttgcgaaatacaa	11	8	11	11	2	1	0	0	0	1	0	2	3	1	1	2	2	4	2	2	2	4	2	rs267599724		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:186362631C>T	ENST00000265029.3	+	4	617	c.516C>T	c.(514-516)acC>acT	p.T172T	FETUB_ENST00000539949.1_Silent_p.T24T|FETUB_ENST00000450521.1_Silent_p.T172T|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.T107T|FETUB_ENST00000382136.3_Silent_p.T135T	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	172	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGGCTGCCACCGAGTCTCTTG	0.473																																						uc010hyq.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(514-516)acC>acT		Homo sapiens fetuin B (FETUB), mRNA.							118	111	113					3																	186362631		2203	4300	6503	SO:0001819	synonymous_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362631C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.516C>T	3.37:g.186362631C>T						FETUB_uc011brz.2_Silent_p.T24T|FETUB_uc003fqn.3_Silent_p.T172T|FETUB_uc010hyr.3_Silent_p.T135T|FETUB_uc010hys.3_Silent_p.T24T|FETUB_uc003fqp.4_Silent_p.T107T	p.T172T	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	777	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		172			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	c.516C>T	CCDS3279.1																																																																																				0.473	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		T	186362631	C	T	186362631	2	4	245	1	0	0	0	0	0	0	0	1	5821	639	23	2		2	FETUB	3	186362631	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	64381434	186362631	11659799	19	17371											
RAB28	9364	broad.mit.edu	37	chr4	13383174	13383174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accattttcctggcaaaaccGtaagtgtttttcaggtttta	10	16	7	8	1	1	0	1	0	0	0	2	0	2	0	3	2	1	4	3	2	4	7	rs139395840	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:13383174G>C	ENST00000330852.5	-	5	650	c.436C>G	c.(436-438)Cgg>Ggg	p.R146G	RAB28_ENST00000338176.4_Missense_Mutation_p.R146G|RAB28_ENST00000288723.4_Missense_Mutation_p.R146G	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	146					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R146W(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGGCAAAACCGTAAGTGTTTT	0.328																																						uc003gmu.2																			1	Substitution - Missense(1)	p.R146W(2)	ovary(1)	endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(436-438)Cgg>Ggg		Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.							67	69	69					4																	13383174		2203	4300	6503	SO:0001583	missense	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13383174G>C	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.436C>G	4.37:g.13383174G>C	ENSP00000328551:p.Arg146Gly					RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G	p.R146G	NM_001017979	NP_001017979	P51157	RAB28_HUMAN			4	651	-			146					G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	c.436C>G	CCDS33961.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.90|14.90|14.90	2.674645|2.674645|2.674645	0.47781|0.47781|0.47781	.|.|.	.|.|.	ENSG00000157869|ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000511649|ENST00000504644	T;T;T|.|.	0.76968|.|.	-1.06;-1.06;-1.06|.|.	5.87|5.87|5.87	2.09|2.09|2.09	0.27110|0.27110|0.27110	Small GTP-binding protein domain (1);|.|.	0.119762|.|.	0.56097|.|.	D|.|.	0.000037|.|.	T|T|.	0.53769|0.53769|.	0.1817|0.1817|.	L|L|L	0.43701|0.43701|0.43701	1.375|1.375|1.375	0.58432|0.58432|0.58432	D|D|D	0.999991|0.999991|0.999991	P;P|.|.	0.42337|.|.	0.776;0.533|.|.	B;B|.|.	0.42959|.|.	0.403;0.228|.|.	T|T|.	0.39143|0.39143|.	-0.9628|-0.9628|.	10|5|.	0.36615|.|.	T|.|.	0.2|.|.	.|.|.	9.5919|9.5919|9.5919	0.39550|0.39550|0.39550	0.0646:0.0:0.4075:0.5279|0.0646:0.0:0.4075:0.5279|0.0646:0.0:0.4075:0.5279	.|.|.	146;146|.|.	P51157;P51157-2|.|.	RAB28_HUMAN;.|.|.	G|R|X	146|68|15	ENSP00000328551:R146G;ENSP00000288723:R146G;ENSP00000340079:R146G|.|.	ENSP00000288723:R146G|.|.	R|T|Y	-|-|-	1|2|3	2|0|2	RAB28|RAB28|RAB28	12992272|12992272|12992272	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.707000|0.707000|0.707000	0.30419|0.30419|0.30419	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.971000|1.971000|1.971000	0.40530|0.40530|0.40530	0.064000|0.064000|0.064000	0.16427|0.16427|0.16427	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	CGG|ACG|TAC		0.328	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		C	13383174	G	C	13383174	3	2	245	1	0	0	0	0	1	0	0	0	12916	1144	40	5	381	5	RAB28	4	13383174	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		13383174	177771102	20	17372											
NCAPG	64151	broad.mit.edu	37	chr4	17819684	17819684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattttgccagagcCtgtagtatatgcagactatt	12	12	10	7	0	0	4	0	0	0	4	0	4	0	4	2	0	4	4	2	0	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:17819684C>T	ENST00000251496.2	+	7	1267	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	364					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCAGAGCCTGTAGTATAT	0.368																																						uc003gpp.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1090-1092)cCt>cTt		Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.							122	130	127					4																	17819684		2202	4299	6501	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17819684C>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1091C>T	4.37:g.17819684C>T	ENSP00000251496:p.Pro364Leu					NCAPG_uc011bxj.2_5'UTR	p.P364L	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	6	1267	+			364					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1091C>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286359	0.40494	.	.	ENSG00000109805	ENST00000251496	T	0.26223	1.75	4.95	4.95	0.65309	Armadillo-type fold (1);	0.099222	0.64402	D	0.000001	T	0.20495	0.0493	N	0.21097	0.63	0.80722	D	1	B	0.13145	0.007	B	0.17433	0.018	T	0.03863	-1.0997	10	0.25751	T	0.34	-9.0596	18.5554	0.91081	0.0:1.0:0.0:0.0	.	364	Q9BPX3	CND3_HUMAN	L	364	ENSP00000251496:P364L	ENSP00000251496:P364L	P	+	2	0	NCAPG	17428782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.481000	0.66826	2.463000	0.83235	0.655000	0.94253	CCT		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		T	17819684	C	T	17819684	3	4	245	1	0	0	0	0	1	0	0	0	10207	681	24	3	1117	3	NCAPG	4	17819684	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	4436510	17819684	173334592	21	17373											
ENAM	10117	broad.mit.edu	37	chr4	71508380	71508380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggccaaataaacaccctGtaggaactactgttgcccca	13	7	9	12	0	0	0	0	0	0	0	0	1	0	1	4	3	4	2	4	3	6	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:71508380G>T	ENST00000396073.3	+	9	1518	c.1237G>T	c.(1237-1239)Gta>Tta	p.V413L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	413					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAAACACCCTGTAGGAACTAC	0.468																																						uc011caw.1																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1237-1239)Gta>Tta		Homo sapiens enamelin (ENAM), mRNA.							75	80	78					4																	71508380		2202	4297	6499	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508380G>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1237G>T	4.37:g.71508380G>T	ENSP00000379383:p.Val413Leu						p.V413L	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	1518	+			413					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1237G>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.858844	0.00558	.	.	ENSG00000132464	ENST00000396073	T	0.30714	1.52	5.84	-11.6	0.00059	.	1.847910	0.02362	N	0.076980	T	0.33411	0.0862	M	0.75447	2.3	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.48445	-0.9035	10	0.22109	T	0.4	14.9109	17.3503	0.87322	0.1039:0.1494:0.7467:0.0	.	413	Q9NRM1	ENAM_HUMAN	L	413	ENSP00000379383:V413L	ENSP00000379383:V413L	V	+	1	0	ENAM	71727244	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.827000	0.01704	-4.102000	0.00073	-2.939000	0.00087	GTA		0.468	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71508380	G	T	71508380	3	4	245	1	0	0	0	0	1	0	0	0	5112	1377	48	5	1267	5	ENAM	4	71508380	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	53688696	71508380	119645896	22	17374											
HEATR7B2	133558	broad.mit.edu	37	chr5	41009468	41009468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtttcccactggaggCtggcttttcagccagcgcct	7	10	11	13	1	1	1	1	0	0	1	2	2	2	2	3	3	2	3	3	3	1	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:41009468C>G	ENST00000399564.4	-	32	3784	c.3334G>C	c.(3334-3336)Gcc>Ccc	p.A1112P	MROH2B_ENST00000506092.2_Missense_Mutation_p.A667P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1112																	CCACTGGAGGCTGGCTTTTCA	0.498																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(3334-3336)Gcc>Ccc		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							105	106	105					5																	41009468		1857	4105	5962	SO:0001583	missense	133558						binding	g.chr5:41009468C>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3334G>C	5.37:g.41009468C>G	ENSP00000382476:p.Ala1112Pro					HEATR7B2_uc003jmi.4_Missense_Mutation_p.A667P	p.A1112P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			31	3824	-			1112					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3334G>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657384	0.29425	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07444	3.19;3.19	5.53	3.69	0.42338	Armadillo-like helical (1);Armadillo-type fold (1);	0.509094	0.19845	N	0.104778	T	0.05135	0.0137	N	0.17800	0.525	0.32648	N	0.519723	P	0.37864	0.61	B	0.37888	0.26	T	0.25257	-1.0137	10	0.18710	T	0.47	.	6.9657	0.24621	0.171:0.7412:0.0:0.0877	.	1112	Q7Z745	HTRB2_HUMAN	P	667;817;1112	ENSP00000441504:A667P;ENSP00000382476:A1112P	ENSP00000296803:A817P	A	-	1	0	HEATR7B2	41045225	0.994000	0.37717	1.000000	0.80357	0.194000	0.23727	0.251000	0.18257	1.580000	0.49851	0.655000	0.94253	GCC		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41009468	C	G	41009468	3	3	245	1	0	0	0	0	1	0	0	0	7035	797	28	5	1467	5	HEATR7B2	5	41009468	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		41009468	139905792	23	17375											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724302	140724302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagtgatagtcctggaTgcaaatgacaacccaccaat	15	8	7	11	0	0	2	0	2	0	0	2	3	2	3	4	1	2	1	4	1	5	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140724302T>G	ENST00000253812.6	+	1	702	c.702T>G	c.(700-702)gaT>gaG	p.D234E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTCCTGGATGCAAATGACA	0.527																																						uc003ljm.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(700-702)gaT>gaG		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							54	56	55					5																	140724302		2191	4296	6487	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724302T>G	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.702T>G	5.37:g.140724302T>G	ENSP00000253812:p.Asp234Glu					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D234E	p.D234E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	702	+			234			Cadherin 2.		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.702T>G	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303624	0.60305	.	.	ENSG00000254245	ENST00000253812	T	0.74106	-0.81	5.65	3.23	0.37069	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34200	U	0.004180	D	0.92084	0.7491	H	0.99919	4.95	0.24268	N	0.995253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84976	0.0885	10	0.87932	D	0	.	10.2331	0.43266	0.0:0.137:0.0:0.863	.	234;234	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	E	234	ENSP00000253812:D234E	ENSP00000253812:D234E	D	+	3	2	PCDHGA3	140704486	0.957000	0.32711	1.000000	0.80357	0.995000	0.86356	0.047000	0.14056	0.492000	0.27815	0.533000	0.62120	GAT		0.527	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		G	140724302	T	G	140724302	3	3	245	1	0	0	0	0	1	0	0	0	11555	1461	51	5	704	5	PCDHGA3	5	140724302	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	99714834	140724302	40190958	24	17376											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768648	140768648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacttcttcaagaaacacGtataaattagtgacagatgc	16	12	6	7	1	2	3	1	1	1	2	2	3	2	3	0	0	3	1	0	0	7	6	rs371979686		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140768648G>A	ENST00000519479.1	+	1	1197	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGAAACACGTATAAATTAG	0.433																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1195-1197)acG>acA		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.		G	,,,,,,,,,,,	0,3814		0,0,1907	126	127	127		1197,,,,,,,,,,,1197	-10.4	0	5		127	1,8259		0,1,4129	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032098.1	,,,,,,,,,,,	0,1,6036	AA,AG,GG		0.0121,0.0,0.0083	,,,,,,,,,,,	399/924,,,,,,,,,,,399/804	140768648	1,12073	1907	4130	6037	SO:0001819	synonymous_variant	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768648G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1197G>A	5.37:g.140768648G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.T399T	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1197	+			403			Cadherin 4.		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1197G>A	CCDS54928.1																																																																																				0.433	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		A	140768648	G	A	140768648	2	1	245	1	0	0	0	0	0	0	0	1	11565	1132	40	1		1	PCDHGB4	5	140768648	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	44346	140768648	40146612	25	17377											
RNF130	55819	broad.mit.edu	37	chr5	179390508	179390508	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggctctgatgatcaTgtagcagagtgtgagggcac	9	10	15	7	0	2	4	1	3	1	1	2	4	2	4	0	2	2	5	0	2	1	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:179390508T>G	ENST00000521389.1	-	8	1622	c.1207A>C	c.(1207-1209)Atg>Ctg	p.M403L	RNF130_ENST00000522208.2_Intron|RNF130_ENST00000261947.4_Intron|CTC-563A5.2_ENST00000510240.1_RNA	NM_018434.4	NP_060904.2			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATGATCATGTAGCAGAGT	0.443																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1207-1209)Atg>Ctg		Homo sapiens ring finger protein 130 (RNF130), mRNA.							131	108	115					5																	179390508		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179390508T>G	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1207A>C	5.37:g.179390508T>G	ENSP00000430237:p.Met403Leu					RNF130_uc003mlm.1_Intron	p.M403L	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1614	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	403						Missense_Mutation	SNP	ENST00000521389.1	37	c.1207A>C	CCDS4451.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.283210	0.59867	.	.	ENSG00000113269	ENST00000521389	T	0.04083	3.71	5.95	5.95	0.96441	.	0.226336	0.45867	D	0.000326	T	0.07954	0.0199	N	0.14661	0.345	0.80722	D	1	P	0.35745	0.518	P	0.47827	0.558	T	0.43130	-0.9410	10	0.87932	D	0	.	16.397	0.83610	0.0:0.0:0.0:1.0	.	403	Q86XS8	GOLI_HUMAN	L	403	ENSP00000430237:M403L	ENSP00000430237:M403L	M	-	1	0	RNF130	179323114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.543000	0.73874	2.275000	0.75901	0.459000	0.35465	ATG		0.443	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253499.3	NM_018434		G	179390508	T	G	179390508	3	3	245	1	0	0	0	0	1	0	0	0	13438	1464	51	5	60	5	RNF130	5	179390508	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	38621860	179390508	1524752	26	17378											
TRIM7	81786	broad.mit.edu	37	chr5	180625194	180625194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccctacctttctcctctTtctccagctctccccgaagg	5	13	4	19	1	4	0	0	0	4	0	8	1	5	0	6	1	2	1	6	1	2	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:180625194T>A	ENST00000274773.7	-	6	1074	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	TRIM7_ENST00000361809.3_Missense_Mutation_p.K130I|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.K156I|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.K130I|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.K130I|CTC-338M12.6_ENST00000509080.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTTCTCCTCTTTCTCCAGCTC	0.517																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(1012-1014)aAa>aTa		Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.							255	198	217					5																	180625194		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180625194T>A	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1013A>T	5.37:g.180625194T>A	ENSP00000274773:p.Lys338Ile					TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I	p.K338I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	5	1080	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	338			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.1013A>T	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089057	0.36855	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.61392	0.47;0.16;0.16;0.11;0.16	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.619156	0.14727	N	0.302014	T	0.71953	0.3401	M	0.65975	2.015	0.37036	D	0.89692	D;B	0.69078	0.997;0.001	D;B	0.66196	0.942;0.008	T	0.76364	-0.2986	10	0.66056	D	0.02	.	11.7802	0.52010	0.0:0.0:0.0:1.0	.	338;156	Q9C029;Q9C029-4	TRIM7_HUMAN;.	I	338;130;130;156;130	ENSP00000274773:K338I;ENSP00000376991:K130I;ENSP00000355059:K130I;ENSP00000376994:K156I;ENSP00000391458:K130I	ENSP00000274773:K338I	K	-	2	0	TRIM7	180557800	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	2.037000	0.41174	2.091000	0.63221	0.459000	0.35465	AAA		0.517	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		A	180625194	T	A	180625194	3	1	245	1	0	0	0	0	1	0	0	0	16540	1841	64	5	530	5	TRIM7	5	180625194	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	1234686	180625194	290066	27	17379											
LY6G6C	80740	broad.mit.edu	37	chr6	31687971	31687971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtagcaggagtgacagCgaatgtcagctgggaagaca	12	7	14	8	1	1	2	1	1	0	1	1	5	1	4	1	2	3	3	1	2	3	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:31687971C>A	ENST00000375819.2	-	2	227	c.62G>T	c.(61-63)cGc>cTc	p.R21L	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	21	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGAGTGACAGCGAATGTCAGC	0.592																																						uc003nwh.3																			0		p.R21C(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(61-63)cGc>cTc		Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.							95	74	81					6																	31687971		1510	2709	4219	SO:0001583	missense	80740					anchored to membrane|plasma membrane		g.chr6:31687971C>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.62G>T	6.37:g.31687971C>A	ENSP00000364978:p.Arg21Leu					LY6G6C_uc010jtd.3_Non-coding_Transcript	p.R21L	NM_025261	NP_079537	O95867	LY66C_HUMAN			1	117	-			21			UPAR/Ly6.		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.62G>T	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232533	0.58777	.	.	ENSG00000204421	ENST00000375819	D	0.90069	-2.61	5.11	4.24	0.50183	.	0.000000	0.47455	D	0.000225	T	0.77772	0.4180	L	0.27053	0.805	0.28413	N	0.918082	D	0.56746	0.977	P	0.53954	0.738	T	0.70528	-0.4847	10	0.19590	T	0.45	.	9.3524	0.38147	0.0:0.9003:0.0:0.0997	.	21	O95867	LY66C_HUMAN	L	21	ENSP00000364978:R21L	ENSP00000364978:R21L	R	-	2	0	LY6G6C	31795950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.281000	0.33214	1.164000	0.42652	0.591000	0.81541	CGC		0.592	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			A	31687971	C	A	31687971	3	1	245	1	0	0	0	0	1	0	0	0	9094	768	27	5	323	5	LY6G6C	6	31687971	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		31687971	139427096	28	17380											
DNAH8	1769	broad.mit.edu	37	chr6	38805720	38805720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacctttgttacaggcCagtttcgatgatctgtggag	11	13	10	7	1	1	1	0	1	1	0	2	3	1	2	2	2	2	2	2	2	4	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:38805720C>A	ENST00000359357.3	+	31	3971	c.3717C>A	c.(3715-3717)gcC>gcA	p.A1239A	DNAH8_ENST00000449981.2_Silent_p.A1456A|DNAH8_ENST00000441566.1_Silent_p.A1239A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1239					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTACAGGCCAGTTTCGATG	0.328																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4366-4368)gcC>gcA		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							137	126	129					6																	38805720		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38805720C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3717C>A	6.37:g.38805720C>A						DNAH8_uc003ooe.2_Silent_p.A1239A	p.A1456A	NM_001206927	NP_001193856					32	4477	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4368C>A																																																																																					0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38805720	C	A	38805720	2	1	245	1	0	0	0	0	0	0	0	1	4607	581	21	5		5	DNAH8	6	38805720	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	7117749	38805720	132309347	29	17381											
TAAR1	134864	broad.mit.edu	37	chr6	132966395	132966395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatccccaatgtcttcaCagctttcctttctttgcttt	7	17	3	14	0	3	0	1	0	2	0	5	0	5	0	3	0	2	2	3	0	2	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:132966395C>G	ENST00000275216.1	-	1	747	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	250					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AATGTCTTCACAGCTTTCCTT	0.393																																						uc003qdm.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(748-750)Gtg>Ctg		Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	Amphetamine(DB00182)						81	73	76					6																	132966395		2203	4299	6502	SO:0001583	missense	134864					plasma membrane		g.chr6:132966395C>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.748G>C	6.37:g.132966395C>G	ENSP00000275216:p.Val250Leu						p.V250L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	0	748	-	Breast(56;0.135)		250					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.748G>C	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659564	0.29515	.	.	ENSG00000146399	ENST00000275216	T	0.71579	-0.58	5.93	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.164261	0.53938	D	0.000048	T	0.25791	0.0628	N	0.02751	-0.505	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16748	-1.0392	10	0.33940	T	0.23	-0.0617	13.0298	0.58835	0.0:0.8693:0.0:0.1307	.	250	Q96RJ0	TAAR1_HUMAN	L	250	ENSP00000275216:V250L	ENSP00000275216:V250L	V	-	1	0	TAAR1	133008088	0.698000	0.27777	0.020000	0.16555	0.796000	0.44982	1.319000	0.33655	0.852000	0.35287	0.555000	0.69702	GTG		0.393	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		G	132966395	C	G	132966395	3	3	245	1	0	0	0	0	1	0	0	0	15486	478	17	5	275	5	TAAR1	6	132966395	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	94160675	132966395	38148672	30	17382											
C6orf211	79624	broad.mit.edu	37	chr6	151789913	151789913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaaatgggtttaccacAatcatatattttggactctg	11	15	9	6	0	2	0	1	0	1	0	2	1	2	1	1	3	1	2	1	3	6	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:151789913A>C	ENST00000367294.3	+	5	1253	c.994A>C	c.(994-996)Aat>Cat	p.N332H	C6orf211_ENST00000545879.1_Missense_Mutation_p.N213H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	332										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GGTTTACCACAATCATATATT	0.383																																						uc003qok.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(994-996)Aat>Cat		Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.							85	86	86					6																	151789913		2203	4300	6503	SO:0001583	missense	79624						protein binding	g.chr6:151789913A>C	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.994A>C	6.37:g.151789913A>C	ENSP00000356263:p.Asn332His					C6orf211_uc011ees.1_Missense_Mutation_p.N213H	p.N332H	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	1253	+			332					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.994A>C	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.122333	0.56613	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.06528	3.29;3.29	6.16	5.3	0.74995	Domain of unknown function DUF89 (2);	0.091049	0.64402	D	0.000001	T	0.01156	0.0038	N	0.01576	-0.805	0.32448	N	0.545858	B	0.12013	0.005	B	0.15484	0.013	T	0.45323	-0.9269	10	0.44086	T	0.13	.	15.5639	0.76273	0.0657:0.0:0.9343:0.0	.	332	Q9H993	CF211_HUMAN	H	332;213	ENSP00000356263:N332H;ENSP00000444121:N213H	ENSP00000356263:N332H	N	+	1	0	C6orf211	151831606	1.000000	0.71417	0.142000	0.22268	0.978000	0.69477	6.703000	0.74633	1.633000	0.50488	-0.137000	0.14449	AAT		0.383	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		C	151789913	A	C	151789913	3	2	245	1	0	0	0	0	1	0	0	0	2354	130	5	5	1012	5	C6orf211	6	151789913	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	18823518	151789913	19325154	31	17383											
MRPL32	64983	broad.mit.edu	37	chr7	42977023	42977023	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagactgcagaaatcagaCgacagatagggaagcaagaa	19	3	13	6	1	1	5	1	0	0	5	1	8	1	6	0	2	2	2	0	2	5	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:42977023C>T	ENST00000223324.2	+	3	602	c.415C>T	c.(415-417)Cga>Tga	p.R139*	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	139					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAATCAGACGACAGATAGG	0.493																																						uc003tia.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(415-417)Cga>Tga		Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.							92	82	86					7																	42977023		2203	4300	6503	SO:0001587	stop_gained	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42977023C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.415C>T	7.37:g.42977023C>T	ENSP00000223324:p.Arg139*					MRPL32_uc003tib.3_Non-coding_Transcript	p.R139*	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			2	462	+			139					Q96Q68|Q9P098	Nonsense_Mutation	SNP	ENST00000223324.2	37	c.415C>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	c	32	5.170411	0.94768	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.91	1.48	0.22813	.	0.603920	0.19111	N	0.122455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-1.4918	15.4404	0.75178	0.6273:0.3727:0.0:0.0	.	.	.	.	X	139	.	ENSP00000223324:R139X	R	+	1	2	MRPL32	42943548	0.001000	0.12720	0.269000	0.24586	0.928000	0.56348	0.395000	0.20850	0.033000	0.15463	-0.121000	0.15023	CGA		0.493	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		T	42977023	C	T	42977023	4	4	245	1	0	0	0	0	0	1	0	0	9795	528	19	1	425	1	MRPL32	7	42977023	Nonsense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		42977023	116161640	32	17384											
MYO1G	64005	broad.mit.edu	37	chr7	45016575	45016575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcacggccctggtacctgGcgatggcctcaggcccatac	6	7	12	16	2	2	0	2	0	0	0	2	1	2	0	4	5	2	2	4	5	2	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:45016575G>C	ENST00000258787.7	-	2	327	c.191C>G	c.(190-192)gCc>gGc	p.A64G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	64	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGTACCTGGCGATGGCCTC	0.627																																						uc003tmh.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(190-192)gCc>gGc		Homo sapiens myosin IG (MYO1G), mRNA.							77	70	72					7																	45016575		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45016575G>C	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.191C>G	7.37:g.45016575G>C	ENSP00000258787:p.Ala64Gly					MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	p.A64G	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			1	335	-			64			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.191C>G	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180012	0.57800	.	.	ENSG00000136286	ENST00000258787	D	0.87103	-2.21	3.93	3.93	0.45458	Myosin head, motor domain (2);	0.000000	0.37136	N	0.002237	T	0.79753	0.4500	L	0.33189	0.99	0.37537	D	0.91816	B	0.33345	0.409	B	0.34991	0.193	T	0.81024	-0.1120	10	0.46703	T	0.11	.	9.3236	0.37980	0.0:0.0:0.6714:0.3286	.	64	B0I1T2	MYO1G_HUMAN	G	64	ENSP00000258787:A64G	ENSP00000258787:A64G	A	-	2	0	MYO1G	44983100	1.000000	0.71417	0.991000	0.47740	0.933000	0.57130	6.538000	0.73852	2.199000	0.70637	0.655000	0.94253	GCC		0.627	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			C	45016575	G	C	45016575	3	2	245	1	0	0	0	0	1	0	0	0	10074	1203	42	5	2949	5	MYO1G	7	45016575	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	2039552	45016575	114122088	33	17385											
FZD1	8321	broad.mit.edu	37	chr7	90895152	90895152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggagctgcgcttctcGcgcacctggattggcatttg	5	10	13	13	4	1	0	0	0	1	0	2	3	1	2	2	3	2	4	2	3	0	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:90895152G>A	ENST00000287934.2	+	1	1370	c.957G>A	c.(955-957)tcG>tcA	p.S319S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	319					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGCTTCTCGCGCACCTGGA	0.617																																						uc003ula.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(955-957)tcG>tcA		Homo sapiens frizzled family receptor 1 (FZD1), mRNA.							97	86	89					7																	90895152		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895152G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.957G>A	7.37:g.90895152G>A							p.S319S	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		0	1370	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		319					A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.957G>A	CCDS5620.1																																																																																				0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		A	90895152	G	A	90895152	2	1	245	1	0	0	0	0	0	0	0	1	6128	1074	38	1		1	FZD1	7	90895152	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	45878577	90895152	68243511	34	17386											
TAF6	6878	broad.mit.edu	37	chr7	99705016	99705016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggacgatgccgggggAggaactggagaaggatggga	11	3	22	5	3	0	1	0	0	0	1	0	9	0	6	1	8	2	0	1	8	2	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:99705016A>G	ENST00000344095.4	-	15	2412	c.1887T>C	c.(1885-1887)ccT>ccC	p.P629P	TAF6_ENST00000437822.2_Silent_p.P666P|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Silent_p.P629P|TAF6_ENST00000453269.2_Silent_p.P629P|TAF6_ENST00000418432.2_Silent_p.P553P|TAF6_ENST00000472509.1_Silent_p.P686P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	629					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647																																						uc003uth.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(2056-2058)ccT>ccC		Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.							59	65	63					7																	99705016		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99705016A>G		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1887T>C	7.37:g.99705016A>G						AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Silent_p.P551P|TAF6_uc003utm.3_Silent_p.P629P|TAF6_uc003uti.3_Silent_p.P629P|TAF6_uc003utk.3_Silent_p.P629P|TAF6_uc011kji.2_Silent_p.P666P	p.P686P	NM_139315	NP_647476	P49848	TAF6_HUMAN			13	2195	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		629					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.2058T>C	CCDS5686.1																																																																																				0.647	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		G	99705016	A	G	99705016	2	3	245	1	0	0	0	0	0	0	0	1	15527	291	11	4		4	TAF6	7	99705016	Silent	SNP	A	TCGA-41-2575-01A-01D-1495-08	8809864	99705016	59433647	35	17387											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017408	100017408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctctggggaactgatccCcggggtctcctccttagggg	4	11	14	12	1	2	1	0	1	2	0	6	2	4	2	4	6	1	0	4	6	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:100017408C>A	ENST00000398027.2	-	4	374	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.G43W|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	43							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACTGATCCCCGGGGTCTCC	0.493																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(127-129)Ggg>Tgg		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							100	91	94					7																	100017408		1823	4075	5898	SO:0001583	missense	55063						zinc ion binding	g.chr7:100017408C>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.127G>T	7.37:g.100017408C>A	ENSP00000381109:p.Gly43Trp					ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.G42W|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kjt.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kju.1_Missense_Mutation_p.G42W	p.G43W	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			3	375	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		43					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.127G>T	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625711	0.46840	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.56941	0.46;0.43	4.94	3.95	0.45737	.	0.145140	0.32372	N	0.006186	T	0.62514	0.2434	L	0.50333	1.59	0.23997	N	0.996225	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.989;0.974;0.974;0.974	T	0.51957	-0.8639	9	.	.	.	-2.2464	9.0165	0.36173	0.0:0.8898:0.0:0.1102	.	43;43;43;43	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	W	43	ENSP00000381109:G43W;ENSP00000354210:G43W	.	G	-	1	0	ZCWPW1	99855344	0.000000	0.05858	0.003000	0.11579	0.652000	0.38707	0.723000	0.25939	1.278000	0.44430	0.655000	0.94253	GGG		0.493	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		A	100017408	C	A	100017408	3	1	245	1	0	0	0	0	1	0	0	0	17594	623	22	5	1879	5	ZCWPW1	7	100017408	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	312392	100017408	59121255	36	17388											
KCNU1	157855	broad.mit.edu	37	chr8	36766969	36766969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tataccaggaaggagctgaaGgacatagtgttcattgggtc	12	10	13	6	0	1	1	1	1	0	0	2	4	1	4	1	4	2	2	1	4	5	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:36766969G>T	ENST00000399881.3	+	21	2284	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	749					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGGAGCTGAAGGACATAGTGT	0.458																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2245-2247)aaG>aaT		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							172	171	171					8																	36766969		1884	4102	5986	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766969G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2247G>T	8.37:g.36766969G>T	ENSP00000382770:p.Lys749Asn					KCNU1_uc003xjw.2_Non-coding_Transcript	p.K749N	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	20	2334	+			749						Missense_Mutation	SNP	ENST00000399881.3	37	c.2247G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911039	0.72983	.	.	ENSG00000215262	ENST00000399881	T	0.54071	0.59	5.8	3.08	0.35506	.	0.172432	0.35291	U	0.003315	T	0.69468	0.3114	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.70662	-0.4810	10	0.62326	D	0.03	-18.7286	8.7917	0.34854	0.2866:0.0:0.7134:0.0	.	749	A8MYU2	KCNU1_HUMAN	N	749	ENSP00000382770:K749N	ENSP00000382770:K749N	K	+	3	2	KCNU1	36886127	0.969000	0.33509	1.000000	0.80357	0.738000	0.42128	0.034000	0.13776	0.821000	0.34540	-0.126000	0.14955	AAG		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		T	36766969	G	T	36766969	3	4	245	1	0	0	0	0	1	0	0	0	8093	991	35	5	2329	5	KCNU1	8	36766969	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		36766969	109597053	37	17389											
FGFR1	2260	broad.mit.edu	37	chr8	38282202	38282202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcttgcaggatgggcCggtgaggggaccgctctgtg	5	8	17	11	2	1	1	0	1	1	0	1	3	1	3	3	5	2	3	3	5	0	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:38282202C>A	ENST00000447712.2	-	7	1702	c.761G>T	c.(760-762)cGg>cTg	p.R254L	FGFR1_ENST00000397103.1_Missense_Mutation_p.R163L|FGFR1_ENST00000425967.3_Missense_Mutation_p.R285L|FGFR1_ENST00000532791.1_Missense_Mutation_p.R254L|FGFR1_ENST00000397108.4_Missense_Mutation_p.R252L|FGFR1_ENST00000397091.5_Missense_Mutation_p.R252L|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000356207.5_Missense_Mutation_p.R165L|FGFR1_ENST00000326324.6_Missense_Mutation_p.R163L|FGFR1_ENST00000335922.5_Missense_Mutation_p.R246L|FGFR1_ENST00000397113.2_Missense_Mutation_p.R252L|FGFR1_ENST00000341462.5_Missense_Mutation_p.R255L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	254			R -> Q (in HH2). {ECO:0000269|PubMed:16764984}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGGATGGGCCGGTGAGGGGA	0.612		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	uc022aua.1		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	GRCh37	CM066810	FGFR1	M		c.(760-762)cGg>cTg		Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	Palifermin(DB00039)						63	67	66					8																	38282202		2061	4208	6269	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38282202C>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.761G>T	8.37:g.38282202C>A	ENSP00000400162:p.Arg254Leu					FGFR1_uc011lbu.2_Missense_Mutation_p.R285L|FGFR1_uc011lbv.2_Missense_Mutation_p.R252L|FGFR1_uc011lbw.2_Missense_Mutation_p.R165L|FGFR1_uc003xlp.3_Missense_Mutation_p.R254L|FGFR1_uc022aub.1_Missense_Mutation_p.R252L|FGFR1_uc022auc.1_Missense_Mutation_p.R165L|FGFR1_uc022aud.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.3_Missense_Mutation_p.R246L|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.3_Missense_Mutation_p.R165L|FGFR1_uc003xlu.3_Missense_Mutation_p.R163L	p.R254L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		6	1703	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	254		R -> Q (in KAL2).			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.761G>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	36	5.817915	0.96982	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000533668;ENST00000525001	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79940	-1.29;-1.29;-1.3;-1.32;-1.3;-1.29;-1.28;-1.31;-1.25;-1.27;-1.29;-1.06;-1.17	5.93	5.93	0.95920	.	0.048932	0.85682	D	0.000000	D	0.91389	0.7283	M	0.88377	2.95	0.80722	D	1	D;P;P;D;D;P;P;P;P;D;D;P	0.71674	0.981;0.936;0.938;0.964;0.997;0.892;0.938;0.897;0.889;0.998;0.998;0.938	B;P;P;P;D;P;P;P;P;D;D;P	0.65684	0.389;0.758;0.716;0.806;0.934;0.545;0.806;0.644;0.758;0.937;0.915;0.806	D	0.92113	0.5697	10	0.87932	D	0	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	165;165;252;285;163;163;165;254;246;165;163;254	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	L	252;285;254;255;254;254;252;165;246;163;163;252;255;94;254	ENSP00000380280:R252L;ENSP00000393312:R285L;ENSP00000400162:R254L;ENSP00000340636:R255L;ENSP00000432972:R254L;ENSP00000380302:R252L;ENSP00000348537:R165L;ENSP00000337247:R246L;ENSP00000327229:R163L;ENSP00000380292:R163L;ENSP00000380297:R252L;ENSP00000434869:R94L;ENSP00000434712:R254L	ENSP00000311337:R254L	R	-	2	0	FGFR1	38401359	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	CGG		0.612	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	38282202	C	A	38282202	3	1	245	1	0	0	0	0	1	0	0	0	5863	652	23	5	1995	5	FGFR1	8	38282202	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	1515233	38282202	108081820	38	17390											
FNTA	2339	broad.mit.edu	37	chr8	42927324	42927324	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccttctttgggctttagGcatcataggcgagtattagt	7	15	10	9	1	2	0	1	0	1	0	3	1	3	0	1	3	0	3	1	3	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:42927324G>C	ENST00000302279.3	+	5	701	c.507G>C	c.(505-507)tgG>tgC	p.W169C	FNTA_ENST00000529687.1_Splice_Site_p.W18C|RNU1-124P_ENST00000363861.1_RNA|RP11-598P20.5_ENST00000534420.1_Splice_Site_p.W126C|FNTA_ENST00000342116.4_Splice_Site_p.W102C	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	169					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTTTAGGCATCATAGGC	0.368																																						uc003xps.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.e5-1		Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.							142	140	141					8																	42927324		2203	4300	6503	SO:0001630	splice_region_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42927324G>C	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.507-1G>C	8.37:g.42927324G>C						FNTA_uc003xpt.3_Splice_Site_p.W78_splice|FNTA_uc003xpv.3_Splice_Site	p.W169_splice	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		5	555	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	169					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.507_splice	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128737	0.56721	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000525699;ENST00000533336	T	0.62788	0.0	4.41	4.41	0.53225	Protein prenyltransferase (1);	0.110611	0.64402	D	0.000003	D	0.83261	0.5216	M	0.94021	3.485	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.72625	0.945;0.948;0.978	D	0.88147	0.2848	9	.	.	.	.	14.5549	0.68094	0.0:0.0:1.0:0.0	.	102;78;169	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	C	126;169;102;151;18;107	ENSP00000436998:W18C	.	W	+	3	0	FNTA;RP11-598P20.5	43046481	1.000000	0.71417	0.997000	0.53966	0.606000	0.37113	9.648000	0.98483	2.014000	0.59158	0.306000	0.20318	TGG		0.368	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027	Missense_Mutation	C	42927324	G	C	42927324	5	2	245	1	0	0	0	0	0	0	1	0	5977	1217	42	5	525	5	FNTA	8	42927324	Splice_Site	SNP	G	TCGA-41-2575-01A-01D-1495-08	4645122	42927324	103436698	39	17391											
PXDNL	137902	broad.mit.edu	37	chr8	52339264	52339264	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgacatgaaatgtttataTtctttccaacctcgacactt	12	15	4	10	1	1	2	0	2	1	0	3	3	2	2	2	0	1	1	2	0	4	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:52339264T>G	ENST00000356297.4	-	13	1680	c.1580A>C	c.(1579-1581)aAt>aCt	p.N527T	PXDNL_ENST00000543296.1_Missense_Mutation_p.N527T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	527	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATGTTTATATTCTTTCCAAC	0.338																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1579-1581)aAt>aCt		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							129	115	120					8																	52339264		1863	4110	5973	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52339264T>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1580A>C	8.37:g.52339264T>G	ENSP00000348645:p.Asn527Thr						p.N527T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			12	1681	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	527			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1580A>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.464971	0.00171	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.64260	-0.09;-0.09	4.18	1.65	0.23941	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32823	0.0842	N	0.11154	0.105	0.20489	N	0.999891	B	0.11235	0.004	B	0.17098	0.017	T	0.29119	-1.0022	9	0.02654	T	1	.	4.2175	0.10542	0.0:0.1134:0.2069:0.6798	.	527	A1KZ92	PXDNL_HUMAN	T	527	ENSP00000348645:N527T;ENSP00000444865:N527T	ENSP00000348645:N527T	N	-	2	0	PXDNL	52501817	0.015000	0.18098	0.006000	0.13384	0.125000	0.20455	2.063000	0.41423	0.114000	0.18032	0.528000	0.53228	AAT		0.338	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		G	52339264	T	G	52339264	3	3	245	1	0	0	0	0	1	0	0	0	12848	1493	52	5	2855	5	PXDNL	8	52339264	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	9411940	52339264	94024758	40	17392											
UBXN2B	137886	broad.mit.edu	37	chr8	59345800	59345800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaaatcagctgcaaGatgtaggtacaataatcaaa	19	8	9	5	0	2	2	2	0	0	2	2	3	2	2	0	2	3	4	0	2	8	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:59345800G>T	ENST00000399598.2	+	4	543	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	141	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTAC	0.284																																						uc003xtl.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(421-423)Gat>Tat		Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.							159	155	156					8																	59345800		1799	4066	5865	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59345800G>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.421G>T	8.37:g.59345800G>T	ENSP00000382507:p.Asp141Tyr						p.D141Y	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN			3	543	+			141			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.421G>T	CCDS43741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.475240|4.475240	0.84640|0.84640	.|.	.|.	ENSG00000215114|ENSG00000215114	ENST00000399598|ENST00000521796	T|.	0.48201|.	0.82|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SEP domain (3);|.	0.000000|.	0.44902|.	U|.	0.000411|.	T|T	0.67420|0.67420	0.2891|0.2891	L|L	0.44542|0.44542	1.39|1.39	0.46678|0.46678	D|D	0.999155|0.999155	D|.	0.61080|.	0.989|.	P|.	0.57283|.	0.817|.	T|T	0.62690|0.62690	-0.6801|-0.6801	10|5	0.66056|.	D|.	0.02|.	-17.5233|-17.5233	17.8569|17.8569	0.88767|0.88767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	141|.	Q14CS0|.	UBX2B_HUMAN|.	Y|I	141|86	ENSP00000382507:D141Y|.	ENSP00000382507:D141Y|.	D|R	+|+	1|2	0|0	UBXN2B|UBXN2B	59508354|59508354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.256000|7.256000	0.78350|0.78350	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.284	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		T	59345800	G	T	59345800	3	4	245	1	0	0	0	0	1	0	0	0	16912	942	33	5	435	5	UBXN2B	8	59345800	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	7006536	59345800	87018222	41	17393											
LRRCC1	85444	broad.mit.edu	37	chr8	86047170	86047170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgaaaagaaaatgagtcttCctctttaattaaagatctga	17	12	6	6	1	3	4	0	2	3	2	4	5	4	4	1	0	0	0	1	0	7	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:86047170C>T	ENST00000360375.3	+	13	2206	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	LRRCC1_ENST00000414626.2_Missense_Mutation_p.S666F	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	686					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAGTCTTCCTCTTTAATT	0.333																																						uc003ycw.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2056-2058)tCc>tTc		Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.							77	75	75					8																	86047170		1815	4064	5879	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86047170C>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2057C>T	8.37:g.86047170C>T	ENSP00000353538:p.Ser686Phe					LRRCC1_uc022awx.1_Missense_Mutation_p.S593F|LRRCC1_uc010maa.2_Missense_Mutation_p.S387F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S666F	p.S686F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			12	2265	+			686					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2057C>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376832	0.82682	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.34072	1.38;1.38	5.85	4.97	0.65823	.	0.000000	0.40469	N	0.001098	T	0.52757	0.1754	L	0.47716	1.5	0.35614	D	0.808926	D;D;D;D	0.71674	0.995;0.998;0.995;0.994	P;D;P;P	0.65443	0.885;0.935;0.814;0.854	T	0.64097	-0.6487	10	0.52906	T	0.07	-1.6408	17.0482	0.86510	0.0:0.8728:0.1272:0.0	.	593;666;593;686	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	F	686;666	ENSP00000353538:S686F;ENSP00000394695:S666F	ENSP00000353538:S686F	S	+	2	0	LRRCC1	86234422	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.376000	0.52417	1.466000	0.48025	0.655000	0.94253	TCC		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		T	86047170	C	T	86047170	3	4	245	1	0	0	0	0	1	0	0	0	9026	855	30	3	2107	3	LRRCC1	8	86047170	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	26701370	86047170	60316852	42	17394											
GRHL2	79977	broad.mit.edu	37	chr8	102649132	102649132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgttccacaggtgtattAcaacacggatgatgaacgag	12	12	10	7	2	0	2	0	2	0	0	1	4	1	3	1	2	3	2	1	2	4	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:102649132A>G	ENST00000251808.3	+	12	1831	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y482C|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	498					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGGTGTATTACAACACGGAT	0.408																																						uc010mbu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1492-1494)tAc>tGc		Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.							247	216	227					8																	102649132		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102649132A>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1493A>G	8.37:g.102649132A>G	ENSP00000251808:p.Tyr498Cys						p.Y498C	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		11	1823	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		498					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.1493A>G	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506891	0.44558	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12147	2.71;2.72	5.4	5.4	0.78164	.	0.299218	0.37623	N	0.002017	T	0.16428	0.0395	L	0.54323	1.7	0.50467	D	0.999871	B	0.02656	0.0	B	0.06405	0.002	T	0.01819	-1.1267	10	0.39692	T	0.17	-23.7587	15.1097	0.72346	1.0:0.0:0.0:0.0	.	498	Q6ISB3	GRHL2_HUMAN	C	498;482;498	ENSP00000251808:Y498C;ENSP00000379260:Y482C	ENSP00000251808:Y498C	Y	+	2	0	GRHL2	102718308	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.094000	0.71431	2.055000	0.61198	0.459000	0.35465	TAC		0.408	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		G	102649132	A	G	102649132	3	3	245	1	0	0	0	0	1	0	0	0	6764	391	14	4	1539	4	GRHL2	8	102649132	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	16601962	102649132	43714890	43	17395											
PLEC	5339	broad.mit.edu	37	chr8	144996426	144996426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttggccacctcgtcCtggaagagctgctccagctt	5	11	11	14	1	0	1	0	0	0	1	3	2	2	2	5	2	4	3	5	2	1	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:144996426C>T	ENST00000322810.4	-	32	8143	c.7974G>A	c.(7972-7974)caG>caA	p.Q2658Q	PLEC_ENST00000345136.3_Silent_p.Q2521Q|PLEC_ENST00000357649.2_Silent_p.Q2525Q|PLEC_ENST00000354958.2_Silent_p.Q2499Q|PLEC_ENST00000398774.2_Silent_p.Q2489Q|PLEC_ENST00000354589.3_Silent_p.Q2521Q|PLEC_ENST00000527096.1_Silent_p.Q2544Q|PLEC_ENST00000436759.2_Silent_p.Q2548Q|PLEC_ENST00000356346.3_Silent_p.Q2507Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2658	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCTCGTCCTGGAAGAGCT	0.642																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7972-7974)caG>caA		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							16	17	16					8																	144996426		2188	4292	6480	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996426C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7974G>A	8.37:g.144996426C>T						PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	p.Q2658Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	8144	-			2658			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.7974G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	5.560	0.288196	0.10513	.	.	ENSG00000178209	ENST00000527303	.	.	.	4.38	1.43	0.22495	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	.	4.4215	0.11482	0.1514:0.5264:0.0:0.3222	.	.	.	.	K	91	.	.	R	-	2	0	PLEC	145068414	0.913000	0.31002	1.000000	0.80357	0.926000	0.56050	0.008000	0.13197	0.458000	0.26988	-0.494000	0.04653	AGG		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144996426	C	T	144996426	2	4	245	1	0	0	0	0	0	0	0	1	12052	680	24	3		3	PLEC	8	144996426	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	42347294	144996426	1367596	44	17396											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177706	70177706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgccgcagaccttggcGgtgccctgaacttggtgcca	6	7	14	14	3	0	2	0	1	0	1	0	2	0	2	5	4	3	1	5	4	1	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr9:70177706G>A	ENST00000377420.1	-	1	1109	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						AGACCTTGGCGGTGCCCTGAA	0.682																																						uc010moc.3																			0		p.P93P(1)		endometrium(5)|lung(2)	7						c.(277-279)cCg>cTg		Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.							50	73	66					9																	70177706		692	1581	2273	SO:0001583	missense	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177706G>A		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.278C>T	9.37:g.70177706G>A	ENSP00000366637:p.Pro93Leu						p.P93L	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			0	1110	-			93						Missense_Mutation	SNP	ENST00000377420.1	37	c.278C>T	CCDS47977.1	.	.	.	.	.	.	.	.	.	.	g	8.201	0.798135	0.16397	.	.	ENSG00000204779	ENST00000377420	D	0.94232	-3.38	.	.	.	.	1.124890	0.07257	U	0.866810	T	0.82254	0.4997	N	0.19112	0.55	0.40444	D	0.98007	P	0.49961	0.93	B	0.28638	0.092	T	0.76495	-0.2938	9	0.56958	D	0.05	.	3.5331	0.07784	1.0E-4:1.0E-4:0.5588:0.4411	.	93	Q5VV16	FX4L5_HUMAN	L	93	ENSP00000366637:P93L	ENSP00000366637:P93L	P	-	2	0	FOXD4L5	69467526	0.219000	0.23619	0.052000	0.19188	0.000000	0.00434	0.350000	0.20079	0.527000	0.28560	0.000000	0.15137	CCG		0.682	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		A	70177706	G	A	70177706	3	1	245	1	0	0	0	0	1	0	0	0	6002	1116	39	2	976	2	FOXD4L5	9	70177706	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		70177706	71035725	45	17397											
RET	5979	broad.mit.edu	37	chr10	43597850	43597850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcacccacatcccttcGtgagggcgagtgccagtggc	6	8	12	15	2	1	1	1	1	0	0	3	2	2	1	4	2	1	0	4	2	0	1	rs138265837		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:43597850G>A	ENST00000355710.3	+	3	630	c.398G>A	c.(397-399)cGt>cAt	p.R133H	RET_ENST00000340058.5_Missense_Mutation_p.R133H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	133					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACATCCCTTCGTGAGGGCGAG	0.617		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G|||	1	0.000199681	8e-04	0	5008	,	,		5512	0		0	False		,,,				2504	0				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(397-399)cGt>cAt		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	130	113	119		398,398	3.2	0.2	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	RET	NM_020630.4,NM_020975.4	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	133/1073,133/1115	43597850	2,13004	2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597850G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.398G>A	10.37:g.43597850G>A	ENSP00000347942:p.Arg133His					RET_uc001jak.1_Missense_Mutation_p.R133H|RET_uc010qez.1_5'Flank	p.R133H	NM_020975	NP_066124	P07949	RET_HUMAN			2	588	+		Ovarian(717;0.0423)	133					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.398G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681936	0.29872	4.54E-4	0.0	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79454	-1.15;-1.27	5.09	3.21	0.36854	.	0.577902	0.18268	N	0.146406	T	0.74321	0.3701	L	0.44542	1.39	0.09310	N	1	D;D	0.57571	0.965;0.98	B;P	0.51324	0.35;0.666	T	0.63773	-0.6561	10	0.44086	T	0.13	.	7.4434	0.27196	0.2718:0.0:0.7282:0.0	.	133;133	P07949;P07949-2	RET_HUMAN;.	H	133	ENSP00000347942:R133H;ENSP00000344798:R133H	ENSP00000344798:R133H	R	+	2	0	RET	42917856	0.061000	0.20836	0.228000	0.23943	0.142000	0.21351	2.218000	0.42889	1.135000	0.42183	0.655000	0.94253	CGT		0.617	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		A	43597850	G	A	43597850	3	1	245	1	0	0	0	0	1	0	0	0	13235	1145	40	1	408	1	RET	10	43597850	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		43597850	91936897	46	17398											
FAM13C	220965	broad.mit.edu	37	chr10	61022289	61022289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagaggagcttggctccgGgcccgcagcttccggtttcc	4	9	13	15	3	0	1	0	0	0	1	4	2	4	2	5	4	2	5	5	4	0	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:61022289G>C	ENST00000373868.2	-	10	1228	c.1141C>G	c.(1141-1143)Ccg>Gcg	p.P381A	FAM13C_ENST00000373867.3_Missense_Mutation_p.P298A|FAM13C_ENST00000422313.2_Missense_Mutation_p.P381A|FAM13C_ENST00000442566.3_Missense_Mutation_p.P402A|FAM13C_ENST00000435852.2_Missense_Mutation_p.P381A|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.P402A|FAM13C_ENST00000468840.2_Missense_Mutation_p.P298A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	381										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCTCCGGGCCCGCAGCT	0.547																																						uc010qif.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1207-1209)Ccg>Gcg		Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.							68	71	70					10																	61022289		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61022289G>C	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1141C>G	10.37:g.61022289G>C	ENSP00000362975:p.Pro381Ala					FAM13C_uc010qid.2_Missense_Mutation_p.P298A|FAM13C_uc001jkn.3_Missense_Mutation_p.P381A|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.P298A|FAM13C_uc001jkp.3_Missense_Mutation_p.P298A	p.P403A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			9	1273	-			381					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1207C>G	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	7.335	0.619723	0.14193	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.93	3.95	0.45737	.	0.473844	0.21842	N	0.068318	T	0.52092	0.1713	N	0.16903	0.455	0.23056	N	0.998364	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.0;0.002;0.001	T	0.23084	-1.0198	10	0.11485	T	0.65	-2.7884	7.7998	0.29168	0.0:0.222:0.4695:0.3085	.	381;298;381;381	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	A	298;381;402;402;298;381;381	ENSP00000362974:P298A;ENSP00000362975:P381A;ENSP00000395661:P402A;ENSP00000277705:P402A;ENSP00000423896:P298A;ENSP00000392302:P381A;ENSP00000400241:P381A	ENSP00000277705:P402A	P	-	1	0	FAM13C	60692295	0.739000	0.28196	1.000000	0.80357	0.219000	0.24729	1.533000	0.36040	2.814000	0.96858	0.563000	0.77884	CCG		0.547	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			C	61022289	G	C	61022289	3	2	245	1	0	0	0	0	1	0	0	0	5454	1232	43	5	636	5	FAM13C	10	61022289	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	17424439	61022289	74512458	47	17399											
RNH1	6050	broad.mit.edu	37	chr11	494709	494709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggagatgaccctcagGgatggcttgtccttctccag	7	10	11	13	0	3	2	2	1	1	1	5	4	4	3	4	3	0	1	4	3	0	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:494709G>A	ENST00000534797.1	-	9	2775	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	RNH1_ENST00000397604.3_Silent_p.S456S|RNH1_ENST00000438658.2_Silent_p.S456S|RNH1_ENST00000397615.2_Silent_p.S456S|RNH1_ENST00000354420.2_Silent_p.S456S|RNH1_ENST00000533410.1_Silent_p.S456S|RNH1_ENST00000397614.1_Silent_p.S456S|RNH1_ENST00000356187.5_Silent_p.S456S			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCCTCAGGGATGGCTTGT	0.647																																						uc001lpk.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1366-1368)tcC>tcT		Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.							151	124	133					11																	494709		2203	4300	6503	SO:0001819	synonymous_variant	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:494709G>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1368C>T	11.37:g.494709G>A						RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc001lpp.2_Silent_p.S456S|RNH1_uc001lpq.2_Silent_p.S456S|RNH1_uc001lpr.2_Silent_p.S456S|RNH1_uc001lps.2_Silent_p.S456S	p.S456S	NM_203389	NP_976323	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	2776	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	456					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000534797.1	37	c.1368C>T	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	G	8.602	0.887101	0.17540	.	.	ENSG00000023191	ENST00000529768	T	0.44083	0.93	3.71	0.646	0.17789	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.24527	N	0.994132	.	.	.	.	.	.	T	0.37454	-0.9705	6	0.87932	D	0	.	2.8051	0.05425	0.333:0.0:0.4642:0.2028	.	.	.	.	L	285	ENSP00000432170:P285L	ENSP00000432170:P285L	P	-	2	0	RNH1	484709	0.818000	0.29161	0.078000	0.20375	0.089000	0.18198	0.744000	0.26245	0.157000	0.19338	0.650000	0.86243	CCC		0.647	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		A	494709	G	A	494709	2	1	245	1	0	0	0	0	0	0	0	1	13504	1219	43	3		3	RNH1	11	494709	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08		494709	134511807	48	17400											
CD59	966	broad.mit.edu	37	chr11	33731856	33731856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgttgaaattgcaatgcTcaaacttccaacacttgtta	12	13	6	10	2	1	1	1	1	0	0	3	1	2	1	1	0	4	4	1	0	5	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:33731856T>C	ENST00000395850.3	-	4	278	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CD59_ENST00000437761.2_Missense_Mutation_p.E68G|CD59_ENST00000445143.2_Missense_Mutation_p.E68G|CD59_ENST00000533403.1_Missense_Mutation_p.S109G|CD59_ENST00000527577.1_Missense_Mutation_p.E68G|CD59_ENST00000415002.2_Missense_Mutation_p.E68G|CD59_ENST00000351554.3_Missense_Mutation_p.E68G|CD59_ENST00000426650.2_Missense_Mutation_p.E68G|CD59_ENST00000534312.1_Missense_Mutation_p.E68G|CD59_ENST00000528700.1_Missense_Mutation_p.E68G	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	68	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						ATTGCAATGCTCAAACTTCCA	0.433																																						uc001mus.4																			0				endometrium(1)|lung(2)	3						c.(202-204)gAg>gGg		Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.							155	131	139					11																	33731856		2202	4298	6500	SO:0001583	missense	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33731856T>C		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"CD molecules", "Complement system"	1689	protein-coding gene	gene with protein product		107271	"CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)", "CD59 antigen, complement regulatory protein"	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.203A>G	11.37:g.33731856T>C	ENSP00000379191:p.Glu68Gly					CD59_uc009yjx.3_Missense_Mutation_p.E68G|CD59_uc009yjy.3_Missense_Mutation_p.E68G|CD59_uc009yjz.3_Missense_Mutation_p.E68G|CD59_uc001mut.4_Missense_Mutation_p.E68G|CD59_uc009yka.3_Missense_Mutation_p.E68G|CD59_uc001muu.4_Missense_Mutation_p.E68G|CD59_uc001muv.4_Missense_Mutation_p.E68G	p.E68G	NM_001127223	NP_976076	P13987	CD59_HUMAN			2	485	-			68			UPAR/Ly6.			Missense_Mutation	SNP	ENST00000395850.3	37	c.203A>G	CCDS7886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.125|9.125	1.010000|1.010000	0.19277|0.19277	.|.	.|.	ENSG00000085063|ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700|ENST00000533403	T;T;T;T;T;T;T;T;T;T|T	0.71222|0.79940	-0.55;-0.55;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99|-1.32	4.36|4.36	-5.62|-5.62	0.02481|0.02481	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);|.	3.072470|.	0.01334|.	N|.	0.011359|.	T|T	0.71108|0.71108	0.3301|0.3301	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B|B	0.20164|0.02656	0.042|0.0	B|B	0.26202|0.01281	0.067|0.0	T|T	0.50709|0.50709	-0.8796|-0.8796	10|8	0.42905|.	T|.	0.14|.	-2.8938|-2.8938	13.9622|13.9622	0.64188|0.64188	0.0:0.0733:0.6651:0.2616|0.0:0.0733:0.6651:0.2616	.|.	68|109	P13987|E9PI80	CD59_HUMAN|.	G|G	68|109	ENSP00000432362:E68G;ENSP00000437122:E68G;ENSP00000379191:E68G;ENSP00000340210:E68G;ENSP00000404822:E68G;ENSP00000403511:E68G;ENSP00000402425:E68G;ENSP00000410182:E68G;ENSP00000432942:E68G;ENSP00000434617:E68G|ENSP00000436737:S109G	ENSP00000340210:E68G|.	E|S	-|-	2|1	0|0	CD59|CD59	33688432|33688432	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.562000|-0.562000	0.05950|0.05950	-1.644000|-1.644000	0.01517|0.01517	-3.097000|-3.097000	0.00064|0.00064	GAG|AGC		0.433	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		C	33731856	T	C	33731856	3	2	245	1	0	0	0	0	1	0	0	0	3026	1551	54	4	187	4	CD59	11	33731856	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	33237147	33731856	101274660	49	17401											
OR5AK2	390181	broad.mit.edu	37	chr11	56756567	56756567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttcaaacactcacgtActtttttctacaacatttgg	12	15	4	10	1	3	1	2	0	1	1	3	1	3	1	0	1	4	1	0	1	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:56756567A>G	ENST00000326855.2	+	1	221	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACACTCACGTACTTTTTTCTA	0.358																																						uc010rjp.2																			0		p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(178-180)tAc>tGc		Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.							116	103	107					11																	56756567		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756567A>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.179A>G	11.37:g.56756567A>G	ENSP00000322784:p.Tyr60Cys						p.Y60C	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			0	179	+			60					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.179A>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585880	0.28268	.	.	ENSG00000181273	ENST00000326855	T	0.11930	2.73	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36893	N	0.002344	T	0.46288	0.1385	H	0.94964	3.605	0.36723	D	0.8813	D	0.89917	1.0	D	0.91635	0.999	T	0.66073	-0.6014	10	0.87932	D	0	-37.9698	11.532	0.50616	1.0:0.0:0.0:0.0	.	60	Q8NH90	O5AK2_HUMAN	C	60	ENSP00000322784:Y60C	ENSP00000322784:Y60C	Y	+	2	0	OR5AK2	56513143	1.000000	0.71417	0.949000	0.38748	0.113000	0.19764	4.936000	0.63506	1.644000	0.50603	0.163000	0.16589	TAC		0.358	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		G	56756567	A	G	56756567	3	3	245	1	0	0	0	0	1	0	0	0	11142	391	14	4	181	4	OR5AK2	11	56756567	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	23024711	56756567	78249949	50	17402											
PC	5091	broad.mit.edu	37	chr11	66618277	66618277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcacaggccagcatggctgCcacgcctgcccctgacgtgt	6	6	13	16	2	0	1	0	1	0	0	0	1	0	1	5	3	3	3	5	3	0	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:66618277C>A	ENST00000393958.2	-	17	2434	c.2341G>T	c.(2341-2343)Gca>Tca	p.A781S	PC_ENST00000393960.1_Missense_Mutation_p.A781S|PC_ENST00000393955.2_Missense_Mutation_p.A781S|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	781	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGCATGGCTGCCACGCCTGCC	0.657																																						uc001ojn.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2341-2343)Gca>Tca		Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Biotin(DB00121)|Pyruvic acid(DB00119)						39	41	41					11																	66618277		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618277C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2341G>T	11.37:g.66618277C>A	ENSP00000377530:p.Ala781Ser					PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S	p.A781S	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2390	-		Melanoma(852;0.0525)	781			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2341G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898158	0.91962	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.99023	-5.34;-5.34;-5.34	4.41	4.41	0.53225	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.84773	2.715	0.80722	D	1	P	0.37864	0.61	P	0.57283	0.817	D	0.98784	1.0733	10	0.44086	T	0.13	-12.3269	14.5571	0.68109	0.0:1.0:0.0:0.0	.	781	P11498	PYC_HUMAN	S	781	ENSP00000377527:A781S;ENSP00000377530:A781S;ENSP00000377532:A781S	ENSP00000377527:A781S	A	-	1	0	PC	66374853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.349000	0.66010	2.298000	0.77334	0.655000	0.94253	GCA		0.657	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		A	66618277	C	A	66618277	3	1	245	1	0	0	0	0	1	0	0	0	11497	739	26	5	1219	5	PC	11	66618277	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	9861710	66618277	68388239	51	17403											
SLC38A4	55089	broad.mit.edu	37	chr12	47163207	47163207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtgatcactgatgtaCgaatcttaaacaagaaagtt	16	11	8	6	1	2	3	1	2	1	1	2	4	2	3	0	0	2	2	0	0	6	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:47163207C>T	ENST00000447411.1	-	14	1510	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R435H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	435					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACTGATGTACGAATCTTAAA	0.353																																						uc001rpi.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1303-1305)cGt>cAt		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							122	115	117					12																	47163207		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163207C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1304G>A	12.37:g.47163207C>T	ENSP00000389843:p.Arg435His					SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	p.R435H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			14	1703	-	Lung SC(27;0.192)|Renal(347;0.236)		435					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1304G>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159008	0.94686	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02837	4.14;4.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13683	-1.0500	10	0.87932	D	0	-13.1674	19.7359	0.96202	0.0:1.0:0.0:0.0	.	435	Q969I6	S38A4_HUMAN	H	435	ENSP00000389843:R435H;ENSP00000266579:R435H	ENSP00000266579:R435H	R	-	2	0	SLC38A4	45449474	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.818000	0.86416	2.672000	0.90937	0.462000	0.41574	CGT		0.353	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			T	47163207	C	T	47163207	3	4	245	1	0	0	0	0	1	0	0	0	14606	536	19	1	351	1	SLC38A4	12	47163207	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		47163207	86688688	52	17404											
TFCP2	7024	broad.mit.edu	37	chr12	51501060	51501060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataggaaggctgatatttctCcttttcatgaggtgttcgtt	8	17	10	6	1	2	2	1	2	1	0	4	3	2	3	1	3	0	3	1	3	3	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:51501060C>T	ENST00000257915.5	-	7	1245	c.787G>A	c.(787-789)Gag>Aag	p.E263K	TFCP2_ENST00000549867.1_Missense_Mutation_p.E263K|TFCP2_ENST00000548115.1_Missense_Mutation_p.E212K|TFCP2_ENST00000307660.4_Missense_Mutation_p.E212K	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	263	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGATATTTCTCCTTTTCATGA	0.323																																						uc001rxw.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(787-789)Gag>Aag		Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.							281	272	275					12																	51501060		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51501060C>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.787G>A	12.37:g.51501060C>T	ENSP00000257915:p.Glu263Lys					TFCP2_uc001rxv.2_Missense_Mutation_p.E263K|TFCP2_uc009zlx.2_Missense_Mutation_p.E212K|TFCP2_uc009zly.1_Missense_Mutation_p.E165K	p.E263K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			6	1508	-			263			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.787G>A	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259403	0.39995	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.52754	2.14;0.65;2.15;0.65;2.16	5.38	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	M	0.83012	2.62	0.58432	D	0.999993	P;B;B;P	0.44309	0.496;0.22;0.236;0.832	B;B;B;P	0.47102	0.178;0.219;0.081;0.537	T	0.57533	-0.7795	10	0.48119	T	0.1	-10.7022	9.5516	0.39313	0.1429:0.7819:0.0:0.0752	.	212;263;263;263	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	K	263;212;263;212;165	ENSP00000257915:E263K;ENSP00000304411:E212K;ENSP00000449742:E263K;ENSP00000447991:E212K;ENSP00000449280:E165K	ENSP00000257915:E263K	E	-	1	0	TFCP2	49787327	1.000000	0.71417	0.999000	0.59377	0.028000	0.11728	7.770000	0.85390	0.766000	0.33244	-0.188000	0.12872	GAG		0.323	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		T	51501060	C	T	51501060	3	4	245	1	0	0	0	0	1	0	0	0	15792	864	30	3	757	3	TFCP2	12	51501060	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	4337853	51501060	82350835	53	17405											
PCDH9	5101	broad.mit.edu	37	chr13	67802278	67802279	+	Frame_Shift_Del	DEL	CA	CA	-																															ctcagcatatgaggcgccagCacagagtttttctctgtcta																										TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:67802278_67802279delCA	ENST00000377865.2	-	1	428_429	c.294_295delTG	c.(292-297)tgtgctfs	p.A99fs	PCDH9_ENST00000328454.5_Frame_Shift_Del_p.A99fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.A99fs|PCDH9_ENST00000544246.1_Frame_Shift_Del_p.A99fs|PCDH9_ENST00000377861.3_Frame_Shift_Del_p.A99fs			Q9HC56	PCDH9_HUMAN	protocadherin 9	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGGCGCCAGCACAGAGTTTTT	0.436																																						uc001vik.3																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(292-297)tgtgctfs		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802278_67802279delCA	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.294_295delTG	13.37:g.67802280_67802281delCA	ENSP00000367096:p.Ala99fs					PCDH9_uc001vil.3_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs	p.C98fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	1	986_987	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	98			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Frame_Shift_Del	DEL	ENST00000377865.2	37	c.294_295delTG	CCDS9444.1																																																																																				0.436	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		-	67802279	CA	-	67802278	7	5	245	1	0	1	0	1	0	0	0	0	11518	710	25	0	3434	0	PCDH9	13	67802278	Frame_Shift_Del	DEL	CA	TCGA-41-2575-01A-01D-1495-08		67802278	47367600	54	17406											
FARP1	10160	broad.mit.edu	37	chr13	99061722	99061722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcccttgatcagcccGctgctgaatgaccaggcctg	6	9	10	16	1	2	3	1	3	1	0	3	3	2	3	5	1	2	2	5	1	1	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:99061722G>A	ENST00000319562.6	+	14	1810	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	FARP1_ENST00000376586.2_Silent_p.P515P|FARP1_ENST00000595437.1_Silent_p.P515P	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	515					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGATCAGCCCGCTGCTGAATG	0.652																																						uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1543-1545)ccG>ccA		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							37	29	31					13																	99061722		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99061722G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1545G>A	13.37:g.99061722G>A						FARP1_uc001vnj.3_Silent_p.P515P	p.P515P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1784	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		515					Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1545G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379527	0.24944	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.57	-6.03	0.02185	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	0.8949	0.01261	0.3666:0.1579:0.2744:0.2012	.	.	.	.	H	44	.	.	R	+	2	0	FARP1	97859723	0.059000	0.20769	0.779000	0.31741	0.946000	0.59487	-0.651000	0.05372	-1.268000	0.02439	-0.940000	0.02684	CGC		0.652	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		A	99061722	G	A	99061722	2	1	245	1	0	0	0	0	0	0	0	1	5676	1074	38	1		1	FARP1	13	99061722	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	31259444	99061722	16108156	55	17407											
RNASE2	6036	broad.mit.edu	37	chr14	21424331	21424331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaccagcaaacatgttctAtatagttgcatgtgacaaca	15	10	7	9	0	1	1	0	1	1	0	1	2	1	1	1	0	4	4	1	0	5	5	rs536680369		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:21424331A>T	ENST00000304625.2	+	2	491	c.401A>T	c.(400-402)tAt>tTt	p.Y134F		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	134					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AACATGTTCTATATAGTTGCA	0.463																																						uc021ros.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(400-402)tAt>tTt		Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.							114	111	112					14																	21424331		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424331A>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.401A>T	14.37:g.21424331A>T	ENSP00000303276:p.Tyr134Phe					RNASE2_uc010aif.2_Missense_Mutation_p.Y134F|RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	p.Y134F	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	0	401	+	all_cancers(95;0.00381)		134					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.401A>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	a	10.85	1.466076	0.26335	.	.	ENSG00000169385	ENST00000304625	T	0.73258	-0.73	3.02	-0.901	0.10540	Ribonuclease A, domain (4);	0.402896	0.17787	N	0.162001	T	0.57636	0.2067	L	0.43923	1.385	0.09310	N	1	P	0.50272	0.933	B	0.44085	0.44	T	0.52268	-0.8598	10	0.33940	T	0.23	.	6.2417	0.20795	0.4531:0.0:0.0:0.5469	.	134	P10153	RNAS2_HUMAN	F	134	ENSP00000303276:Y134F	ENSP00000303276:Y134F	Y	+	2	0	RNASE2	20494171	0.004000	0.15560	0.002000	0.10522	0.004000	0.04260	0.219000	0.17641	-0.144000	0.11314	0.374000	0.22700	TAT		0.463	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			T	21424331	A	T	21424331	3	4	245	1	0	0	0	0	1	0	0	0	13404	449	16	5	403	5	RNASE2	14	21424331	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		21424331	85925209	56	17408											
JUB	84962	broad.mit.edu	37	chr14	23444297	23444297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctggatgataggacttcCccattgcttgtaggatctgg	8	12	12	9	0	1	1	0	1	1	0	2	4	2	4	3	4	2	2	3	4	2	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:23444297C>T	ENST00000262713.2	-	5	1631	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	AJUBA_ENST00000397388.3_Missense_Mutation_p.G2E|AJUBA_ENST00000361265.4_Missense_Mutation_p.G419E|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	419	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ATAGGACTTCCCCATTGCTTG	0.502																																						uc001whz.3																			0											c.(1255-1257)gGg>gAg		Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.							91	87	89					14																	23444297		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444297C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1256G>A	14.37:g.23444297C>T	ENSP00000262713:p.Gly419Glu					AJUBA_uc001why.3_Missense_Mutation_p.G2E	p.G419E	NM_032876	NP_116265	Q96IF1	JUB_HUMAN			4	1629	-			419			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1256G>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199337	0.94997	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	6.17	6.17	0.99709	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.80422	2.495	0.80722	D	1	P	0.41366	0.747	P	0.58820	0.846	D	0.92240	0.5800	10	0.49607	T	0.09	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	419	Q96IF1	JUB_HUMAN	E	419;2;419;2;2;2	ENSP00000262713:G419E;ENSP00000380543:G2E;ENSP00000354491:G419E;ENSP00000452369:G2E;ENSP00000451649:G2E;ENSP00000452325:G2E	ENSP00000262713:G419E	G	-	2	0	JUB	22514137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.941000	0.99782	0.655000	0.94253	GGG		0.502	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			T	23444297	C	T	23444297	3	4	245	1	0	0	0	0	1	0	0	0	7968	623	22	3	376	3	JUB	14	23444297	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	2019966	23444297	83905243	57	17409											
KCNH5	27133	broad.mit.edu	37	chr14	63316419	63316419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccatgttgagacaatataAtccatgactcgctcactaag	14	10	7	10	1	1	2	1	2	0	1	3	4	2	2	2	0	0	2	2	0	4	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:63316419A>T	ENST00000322893.7	-	8	1789	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	KCNH5_ENST00000420622.2_Missense_Mutation_p.D507E|KCNH5_ENST00000394968.1_Missense_Mutation_p.D449E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	507					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACAATATAATCCATGACTC	0.378																																						uc001xfx.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1519-1521)gaT>gaA		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							156	142	147					14																	63316419		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63316419A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1521T>A	14.37:g.63316419A>T	ENSP00000321427:p.Asp507Glu					KCNH5_uc001xfy.3_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E	p.D507E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1572	-			507					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1521T>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706531	0.30232	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96334	-3.98;-3.98;-3.98	5.22	4.07	0.47477	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.41124	1.26	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.946;1.0;0.999	D	0.92509	0.6015	10	0.06236	T	0.91	.	9.9569	0.41673	0.9195:0.0:0.0805:0.0	.	449;507;507	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	E	507;507;449	ENSP00000321427:D507E;ENSP00000395439:D507E;ENSP00000378419:D449E	ENSP00000321427:D507E	D	-	3	2	KCNH5	62386172	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.528000	0.60580	2.078000	0.62432	0.533000	0.62120	GAT		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63316419	A	T	63316419	3	4	245	1	0	0	0	0	1	0	0	0	8035	98	4	5	1495	5	KCNH5	14	63316419	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	39872122	63316419	44033121	58	17410											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059849	79059849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctcatccagccccaCgctgcggatgcagagcacgg	7	6	12	16	3	2	1	1	0	1	1	3	2	3	2	3	2	5	5	3	2	0	0	rs565586720		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:79059849C>T	ENST00000388820.4	-	18	2941	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	911	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V911M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGCCCCACGCTGCGGATG	0.706													C|||	1	0.000199681	0	0	5008	,	,		12131	0		0.001	False		,,,				2504	0					uc002bej.4																			1	Substitution - Missense(1)	p.V911M(2)	lung(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2731-2733)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							18	21	20					15																	79059849		2184	4283	6467	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059849C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2731G>A	15.37:g.79059849C>T	ENSP00000373472:p.Val911Met					ADAMTS7_uc010und.1_Intron	p.V911M	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			17	2942	-			911			TSP type-1 3.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2731G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	4.917	0.170484	0.09391	.	.	ENSG00000136378	ENST00000388820	T	0.61158	0.13	4.59	1.58	0.23477	.	0.073014	0.53938	N	0.000050	T	0.33294	0.0858	N	0.25201	0.72	0.33034	D	0.530502	P	0.38473	0.633	B	0.30943	0.122	T	0.42599	-0.9442	10	0.15499	T	0.54	.	9.4567	0.38758	0.0:0.7614:0.0:0.2386	.	911	Q9UKP4	ATS7_HUMAN	M	911	ENSP00000373472:V911M	ENSP00000373472:V911M	V	-	1	0	ADAMTS7	76846904	0.989000	0.36119	0.901000	0.35422	0.223000	0.24884	2.882000	0.48546	0.035000	0.15519	-0.350000	0.07774	GTG		0.706	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79059849	C	T	79059849	3	4	245	1	0	0	0	0	1	0	0	0	271	536	19	1	2357	1	ADAMTS7	15	79059849	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		79059849	23471543	59	17411											
ADAMTS17	170691	broad.mit.edu	37	chr15	100591784	100591784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggccactcacctccgccGcactgcacactgcacccttc	7	6	6	22	3	1	0	1	0	0	0	3	0	2	0	5	1	2	3	5	1	0	1	rs146325180		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:100591784G>A	ENST00000268070.4	-	17	2553	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	816	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C816C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACCTCCGCCGCACTGCACAC	0.567													G|||	1	0.000199681	8e-04	0	5008	,	,		16783	0		0	False		,,,				2504	0					uc002bvv.1																			1	Substitution - coding silent(1)	p.C816C(2)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2446-2448)tgC>tgT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	138	141	140		2448	-11.1	0.2	15	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	ADAMTS17	NM_139057.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		816/1096	100591784	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100591784G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2448C>T	15.37:g.100591784G>A							p.C816C	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	16	2527	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		816			TSP type-1 2.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2448C>T	CCDS10383.1																																																																																				0.567	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100591784	G	A	100591784	2	1	245	1	0	0	0	0	0	0	0	1	262	1079	38	1		1	ADAMTS17	15	100591784	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	21531935	100591784	1939608	60	17412											
IL4R	3566	broad.mit.edu	37	chr16	27374437	27374437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcagggtggcacccaGgccagtgcggtggtgggctt	5	7	20	9	1	0	0	0	0	0	0	0	1	0	1	2	7	2	3	2	7	0	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr16:27374437G>A	ENST00000395762.2	+	11	2023	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	IL4R_ENST00000170630.2_Silent_p.Q588Q|IL4R_ENST00000543915.2_Silent_p.Q588Q|IL4R_ENST00000380922.3_Silent_p.Q573Q	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	588	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGGCACCCAGGCCAGTGCGG	0.637																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1762-1764)caG>caA		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							31	37	35					16																	27374437		2196	4300	6496	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374437G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1764G>A	16.37:g.27374437G>A						IL4R_uc002dop.4_Silent_p.Q573Q|IL4R_uc010bxy.3_Silent_p.Q588Q|IL4R_uc002doo.3_Silent_p.Q428Q	p.Q588Q	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	2006	+			588			Required for IL4-induced gene expression.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.1764G>A	CCDS10629.1																																																																																				0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27374437	G	A	27374437	2	1	245	1	0	0	0	0	0	0	0	1	7698	991	35	3		3	IL4R	16	27374437	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08		27374437	62980316	61	17413											
YWHAE	7531	broad.mit.edu	37	chr17	1303395	1303395	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtacaccagatcctctcGatcatccatagcggcagcgg	9	8	10	14	3	2	1	1	0	1	1	5	2	4	1	3	3	3	2	3	3	2	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:1303395G>A	ENST00000264335.8	-	1	277	c.10C>T	c.(10-12)Cga>Tga	p.R4*	YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Nonsense_Mutation_p.R4*|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Nonsense_Mutation_p.R4*	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	4					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGATCCTCTCGATCATCCATA	0.657			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.3				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(10-12)Cga>Tga		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.							62	62	62					17																	1303395		2203	4300	6503	SO:0001587	stop_gained	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303395G>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.10C>T	17.37:g.1303395G>A	ENSP00000264335:p.Arg4*					YWHAE_uc002fsk.3_5'UTR|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	p.R4*	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	0	162	-			4					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Nonsense_Mutation	SNP	ENST00000264335.8	37	c.10C>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	40	8.473427	0.98827	.	.	ENSG00000108953	ENST00000264335	.	.	.	4.81	4.81	0.61882	.	0.082402	0.49916	U	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	9.0519	15.3991	0.74823	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000264335:R4X	R	-	1	2	YWHAE	1250145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.084000	0.71335	2.496000	0.84212	0.484000	0.47621	CGA		0.657	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		A	1303395	G	A	1303395	4	1	245	1	0	0	0	0	0	1	0	0	17499	1066	37	2	781	2	YWHAE	17	1303395	Nonsense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		1303395	79891815	62	17414											
YBX2	51087	broad.mit.edu	37	chr17	7194458	7194458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtctccccatctccaAcgctgcgcagaaacttcctg	9	8	6	18	2	2	1	0	0	2	1	5	1	3	1	5	0	3	2	5	0	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7194458A>G	ENST00000007699.5	-	4	476	c.413T>C	c.(412-414)gTt>gCt	p.V138A	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	138	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CCCATCTCCAACGCTGCGCAG	0.502																																						uc002gfq.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(412-414)gTt>gCt		Homo sapiens Y box binding protein 2 (YBX2), mRNA.							137	129	132					17																	7194458		2203	4300	6503	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7194458A>G	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.413T>C	17.37:g.7194458A>G	ENSP00000007699:p.Val138Ala						p.V138A	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			3	470	-			138			CSD.|Required for cytoplasmic retention (By similarity).		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.413T>C	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802323	0.90538	.	.	ENSG00000006047	ENST00000007699	T	0.31510	1.49	5.63	5.63	0.86233	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.066855	0.64402	D	0.000016	T	0.51618	0.1685	L	0.58810	1.83	0.51767	D	0.999937	D	0.76494	0.999	D	0.80764	0.994	T	0.53330	-0.8454	10	0.87932	D	0	-18.2699	14.0999	0.65049	1.0:0.0:0.0:0.0	.	138	Q9Y2T7	YBOX2_HUMAN	A	138	ENSP00000007699:V138A	ENSP00000007699:V138A	V	-	2	0	YBX2	7135182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.941000	0.87700	2.279000	0.76181	0.533000	0.62120	GTT		0.502	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		G	7194458	A	G	7194458	3	3	245	1	0	0	0	0	1	0	0	0	17467	43	2	4	701	4	YBX2	17	7194458	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	5891063	7194458	74000752	63	17415											
TP53	7157	broad.mit.edu	37	chr17	7577609	7577609	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacagtcagagccaacCtaggagataacacaggccca	14	5	11	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	4	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7577609C>G	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGAGCCAACCTAGGAGATAA	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS011061	TP53	S		c.e7-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							89	75	80					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577609C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-1G>C	17.37:g.7577609C>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	p.V225_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	225		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.673_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685397	0.68157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	G	7577609	C	G	7577609	5	3	245	1	0	0	0	0	0	0	1	0	16378	695	24	5	618	5	TP53	17	7577609	Splice_Site	SNP	C	TCGA-41-2575-01A-01D-1495-08	383151	7577609	73617601	64	17416											
WDR16	124739	broad.mit.edu	37	chr17	9546402	9546402	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaagtgactcacgttgggGtgggacacagtggcaacatc	10	8	15	8	1	1	2	1	2	0	0	2	3	1	3	0	4	1	2	0	4	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:9546402G>T	ENST00000285199.7	+	0	0				WDR16_ENST00000299764.5_Missense_Mutation_p.V594L|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.V516L|WDR16_ENST00000352665.5_Missense_Mutation_p.V584L|USP43_ENST00000570475.1_5'Flank	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCACGTTGGGGTGGGACACAG	0.443																																						uc010coc.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1780-1782)Gtg>Ttg		Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.							131	114	120					17																	9546402		2203	4300	6503	SO:0001631	upstream_gene_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9546402G>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4			17.37:g.9546402G>T	Exception_encountered					USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.V584L|WDR16_uc002glz.3_Missense_Mutation_p.V516L	p.V594L			Q8N1V2	WDR16_HUMAN			14	2009	+			584					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1780G>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	8.449	0.852597	0.17106	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.59638	1.2;0.25;0.25	5.88	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.341060	0.34291	N	0.004093	T	0.33760	0.0874	N	0.11651	0.15	0.35103	D	0.765418	B;B;B	0.14012	0.009;0.009;0.004	B;B;B	0.14023	0.01;0.006;0.007	T	0.28870	-1.0030	10	0.20046	T	0.44	-13.0762	8.7283	0.34483	0.2324:0.0:0.7676:0.0	.	594;516;584	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	L	584;516;594	ENSP00000339449:V584L;ENSP00000379521:V516L;ENSP00000299764:V594L	ENSP00000299764:V594L	V	+	1	0	WDR16	9487127	0.998000	0.40836	0.991000	0.47740	0.869000	0.49853	2.105000	0.41825	0.827000	0.34685	0.655000	0.94253	GTG		0.443	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		T	9546402	G	T	9546402	1	4	245	0	1	0	0	0	0	0	0	0	17273	1261	44	5		5	WDR16	17	9546402	5'Flank	SNP	G	TCGA-41-2575-01A-01D-1495-08	1968793	9546402	71648808	65	17417											
BRCA1	672	broad.mit.edu	37	chr17	41245683	41245683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgactactagttcaagcGcatgaatatgcctggtagaa	13	11	9	8	1	1	3	1	2	0	1	1	3	1	3	1	1	4	3	1	1	8	6	rs56039126		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:41245683G>A	ENST00000357654.3	-	10	1983	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A575V|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A622V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A326V|BRCA1_ENST00000354071.3_Missense_Mutation_p.A622V|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A622V|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	622					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGTTCAAGCGCATGAATATG	0.358			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120	GRCh37	CM076031	BRCA1	M	rs56039126	c.(1864-1866)gCg>gTg	Homologous recombination	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,,	0,4406		0,0,2203	83	85	84	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1865,1724,1865,,	1.5	0	17	dbSNP_129	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,intron	BRCA1	NM_007294.3,NM_007297.3,NM_007300.3,NM_007298.3,NM_007299.3	64,64,64,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,,	622/1864,575/1817,622/1885,,	41245683	1,13005	2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245683G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1865C>T	17.37:g.41245683G>A	ENSP00000350283:p.Ala622Val	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.A551V|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.A575V|BRCA1_uc002ict.3_Missense_Mutation_p.A622V|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	p.A622V	NM_007294	NP_009228	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	2097	-		Breast(137;0.000717)	622					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1865C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330879	0.24167	0.0	1.16E-4	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.8	1.5	0.22942	.	0.509438	0.18218	N	0.147967	D	0.84871	0.5568	H	0.95294	3.65	0.09310	N	1	P;P;P;P;P;B	0.46020	0.871;0.871;0.482;0.494;0.63;0.446	B;B;B;B;B;B	0.40134	0.32;0.32;0.097;0.046;0.15;0.08	T	0.79683	-0.1701	10	0.59425	D	0.04	-0.4329	13.0379	0.58882	0.0:0.0:0.4522:0.5478	rs56039126	622;581;622;622;622;622	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	V	622;622;622;622;326;622;575;622;596	ENSP00000350283:A622V;ENSP00000326002:A622V;ENSP00000246907:A622V;ENSP00000310938:A326V;ENSP00000418960:A622V;ENSP00000418775:A575V;ENSP00000419274:A622V;ENSP00000419988:A596V	ENSP00000310938:A326V	A	-	2	0	BRCA1	38499209	0.005000	0.15991	0.048000	0.18961	0.927000	0.56198	1.334000	0.33827	0.623000	0.30267	-0.475000	0.04921	GCG		0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41245683	G	A	41245683	3	1	245	1	0	0	0	0	1	0	0	0	1498	1087	38	1	3852	1	BRCA1	17	41245683	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	31699281	41245683	39949527	66	17418											
CSH2	1443	broad.mit.edu	37	chr17	61950623	61950623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcctggataacggaacGgtttggacggcaccagcctc	12	6	12	11	3	0	0	0	0	0	0	1	3	0	3	3	5	4	2	3	5	4	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:61950623G>A	ENST00000392886.2	-	2	238	c.87C>T	c.(85-87)acC>acT	p.T29T	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000336844.5_Silent_p.T29T|CSH2_ENST00000345366.7_Silent_p.T29T	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	29						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.T29T(2)		endometrium(2)|large_intestine(1)|lung(3)	6						ATAACGGAACGGTTTGGACGG	0.597																																						uc002jch.3																			2	Substitution - coding silent(2)	p.T29T(3)|p.T29N(1)	large_intestine(2)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(85-87)acC>acT		Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.							105	103	104					17																	61950623		2203	4300	6503	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950623G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.87C>T	17.37:g.61950623G>A						CSH2_uc002jci.3_Silent_p.T29T|CSH2_uc002jcg.3_Silent_p.T29T	p.T29T	NM_020991	NP_066271	P01243	CSH_HUMAN			1	202	-			29					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.87C>T	CCDS42369.1																																																																																				0.597	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		A	61950623	G	A	61950623	2	1	245	1	0	0	0	0	0	0	0	1	3941	1103	39	2		2	CSH2	17	61950623	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	20704940	61950623	19244587	67	17419											
BPTF	2186	broad.mit.edu	37	chr17	65888098	65888098	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcagctgaagagccagcAggtggcagccgctgcacatg	10	6	14	11	1	1	2	1	1	0	1	1	2	1	2	2	2	5	5	2	2	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:65888098A>T	ENST00000321892.4	+	7	2442	c.2381A>T	c.(2380-2382)cAg>cTg	p.Q794L	BPTF_ENST00000335221.5_Missense_Mutation_p.Q794L|BPTF_ENST00000306378.6_Missense_Mutation_p.Q668L|BPTF_ENST00000424123.3_Missense_Mutation_p.Q655L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	794					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAGCCAGCAGGTGGCAGCC	0.433																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2002-2004)cAg>cTg		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							45	43	44					17																	65888098		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65888098A>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2381A>T	17.37:g.65888098A>T	ENSP00000315454:p.Gln794Leu					BPTF_uc002jge.3_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	p.Q668L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	2064	+	all_cancers(12;6e-11)		794			Interaction with KEAP1.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2003A>T		.	.	.	.	.	.	.	.	.	.	A	20.8	4.047732	0.75846	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.66460	-0.14;-0.21;-0.19	5.25	5.25	0.73442	.	.	.	.	.	T	0.73760	0.3628	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.992	D;D;D	0.72982	0.977;0.919;0.979	T	0.77021	-0.2742	9	0.72032	D	0.01	-7.974	15.4476	0.75243	1.0:0.0:0.0:0.0	.	794;668;794	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	L	699;668;794;794;592	ENSP00000307208:Q668L;ENSP00000334351:Q794L;ENSP00000315454:Q794L	ENSP00000307208:Q668L	Q	+	2	0	BPTF	63318560	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.150000	0.94667	2.090000	0.63153	0.533000	0.62120	CAG		0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65888098	A	T	65888098	3	4	245	1	0	0	0	0	1	0	0	0	1495	188	7	5	2407	5	BPTF	17	65888098	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	3937475	65888098	15307112	68	17420											
ABCA6	23460	broad.mit.edu	37	chr17	67077247	67077247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgatagagggtaaacGtctgccacgggcagcttata	10	10	13	8	2	2	2	0	1	2	1	2	2	2	2	1	2	3	3	1	2	5	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:67077247G>A	ENST00000284425.2	-	37	4830	c.4656C>T	c.(4654-4656)gaC>gaT	p.D1552D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1552					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGGGTAAACGTCTGCCACGG	0.373																																						uc002jhw.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4654-4656)gaC>gaT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							106	110	109					17																	67077247		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67077247G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4656C>T	17.37:g.67077247G>A							p.D1552D	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			36	4831	-	Breast(10;5.65e-12)		1552					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4656C>T	CCDS11683.1																																																																																				0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		A	67077247	G	A	67077247	2	1	245	1	0	0	0	0	0	0	0	1	36	1136	40	1		1	ABCA6	17	67077247	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	1189149	67077247	14117963	69	17421											
SERPINB3	6317	broad.mit.edu	37	chr18	61323102	61323102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagatagcacgagaccgCggctcccggtcatgcctgag	8	6	12	15	4	1	3	1	1	0	2	3	4	3	3	4	2	2	2	4	2	1	1	rs140650845	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr18:61323102C>T	ENST00000283752.5	-	8	1105	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.R269H	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	321					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGAGACCGCGGCTCCCGGT	0.542													c|||	2	0.000399361	8e-04	0	5008	,	,		18379	0		0.001	False		,,,				2504	0					uc002lji.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(961-963)cGc>cAc		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.							139	125	129					18																	61323102		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323102C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.962G>A	18.37:g.61323102C>T	ENSP00000283752:p.Arg321His					SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.R269H	p.R321H	NM_006919	NP_008850	P29508	SPB3_HUMAN			7	1106	-			321					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.962G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	c	9.709	1.156625	0.21454	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84442	-1.85;-1.85	3.07	-6.15	0.02105	Serpin domain (3);	1.857430	0.03786	N	0.262047	D	0.84215	0.5423	M	0.67953	2.075	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.17433	0.018;0.005	T	0.68648	-0.5353	10	0.45353	T	0.12	.	16.4117	0.83717	0.0:0.1443:0.0:0.8557	.	269;321	P29508-2;P29508	.;SPB3_HUMAN	H	321;269	ENSP00000283752:R321H;ENSP00000329498:R269H	ENSP00000283752:R321H	R	-	2	0	SERPINB3	59474082	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-6.372000	0.00068	-1.952000	0.01027	-0.384000	0.06662	CGC		0.542	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		T	61323102	C	T	61323102	3	4	245	1	0	0	0	0	1	0	0	0	14102	768	27	1	214	1	SERPINB3	18	61323102	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		61323102	16754146	70	17422											
VAV1	7409	broad.mit.edu	37	chr19	6828653	6828653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctggctcagtgcgtgaaCgaggtcaagcgagacaacga	12	5	14	10	4	2	2	2	1	0	1	2	6	2	2	1	2	4	1	1	2	3	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:6828653C>T	ENST00000602142.1	+	12	1195	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	VAV1_ENST00000596764.1_Silent_p.N339N|VAV1_ENST00000304076.2_Silent_p.N371N|VAV1_ENST00000539284.1_Silent_p.N274N|VAV1_ENST00000599806.1_Silent_p.N316N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	371	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGTGCGTGAACGAGGTCAAGC	0.637																																						uc002mfu.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1111-1113)aaC>aaT		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							126	129	128					19																	6828653		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828653C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1113C>T	19.37:g.6828653C>T						VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	p.N371N	NM_005428	NP_005419	P15498	VAV_HUMAN			11	1210	+			371			DH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1113C>T	CCDS12174.1																																																																																				0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6828653	C	T	6828653	2	4	245	1	0	0	0	0	0	0	0	1	17128	535	19	1		1	VAV1	19	6828653	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08		6828653	52300330	71	17423											
TMEM205	374882	broad.mit.edu	37	chr19	11453778	11453778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtggccagcgtaaggcTcaggaacagcaggtaaagct	13	5	14	9	1	1	0	1	0	0	0	1	2	1	1	1	4	4	5	1	4	4	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:11453778T>G	ENST00000354882.5	-	3	709	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	TMEM205_ENST00000588560.1_Missense_Mutation_p.S95R|TMEM205_ENST00000587948.1_Missense_Mutation_p.S95R|TMEM205_ENST00000586218.1_Missense_Mutation_p.S34R|TMEM205_ENST00000589555.1_Missense_Mutation_p.S95R|TMEM205_ENST00000586956.1_Missense_Mutation_p.S95R|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000447337.1_Missense_Mutation_p.S95R|TMEM205_ENST00000586590.1_Missense_Mutation_p.S95R|TMEM205_ENST00000593256.2_Missense_Mutation_p.S95R			Q6UW68	TM205_HUMAN	transmembrane protein 205	95						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						AGCGTAAGGCTCAGGAACAGC	0.642																																						uc002mra.2																			0				endometrium(1)|lung(1)	2						c.(283-285)Agc>Cgc		Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.							40	42	41					19																	11453778		2203	4300	6503	SO:0001583	missense	374882					integral to membrane		g.chr19:11453778T>G	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.283A>C	19.37:g.11453778T>G	ENSP00000346954:p.Ser95Arg					TMEM205_uc002mrb.2_Missense_Mutation_p.S95R|TMEM205_uc002mqz.2_Missense_Mutation_p.S95R	p.S95R	NM_033408	NP_940938	Q6UW68	TM205_HUMAN			3	590	-			95						Missense_Mutation	SNP	ENST00000354882.5	37	c.283A>C	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	T	9.857	1.195207	0.22037	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	5.13	2.86	0.33363	.	0.441463	0.22206	U	0.063163	T	0.49830	0.1580	M	0.67700	2.07	0.32950	D	0.519638	P	0.43542	0.81	P	0.49887	0.625	T	0.59144	-0.7509	9	0.42905	T	0.14	-19.1544	4.595	0.12325	0.4973:0.0892:0.0:0.4135	.	95	Q6UW68	TM205_HUMAN	R	95	.	ENSP00000346954:S95R	S	-	1	0	TMEM205	11314778	1.000000	0.71417	0.991000	0.47740	0.206000	0.24218	3.162000	0.50755	0.871000	0.35750	0.533000	0.62120	AGC		0.642	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		G	11453778	T	G	11453778	3	3	245	1	0	0	0	0	1	0	0	0	16127	1551	54	5	290	5	TMEM205	19	11453778	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	4625125	11453778	47675205	72	17424											
MLL4	9757	broad.mit.edu	37	chr19	36210728	36210728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcaagcataagacgacccCccttcctcctcctcgcctag	8	8	6	19	3	0	1	0	0	0	1	5	2	3	1	7	0	1	2	7	0	3	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:36210728C>A	ENST00000222270.7	+	3	479	c.479C>A	c.(478-480)cCc>cAc	p.P160H	KMT2B_ENST00000341701.1_Missense_Mutation_p.P160H|KMT2B_ENST00000420124.1_Missense_Mutation_p.P160H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	160					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AAGACGACCCCCCTTCCTCCT	0.612																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(478-480)cCc>cAc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							71	78	76					19																	36210728		1956	4131	6087	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36210728C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.479C>A	19.37:g.36210728C>A	ENSP00000222270:p.Pro160His	HNSCC(34;0.089)				MLL2_uc021usu.1_5'UTR	p.P160H	NM_014727	NP_055542	O14686	MLL2_HUMAN			2	479	+			1855					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.479C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795395	0.70452	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85258	-1.96;-1.96;0.58	5.59	5.59	0.84812	.	0.000000	0.41500	D	0.000871	D	0.85991	0.5826	N	0.14661	0.345	0.38324	D	0.943611	D	0.89917	1.0	D	0.85130	0.997	D	0.89152	0.3524	10	0.87932	D	0	.	15.0853	0.72148	0.0:1.0:0.0:0.0	.	160	Q9UMN6	MLL4_HUMAN	H	160	ENSP00000222270:P160H;ENSP00000398837:P160H;ENSP00000345761:P160H	ENSP00000222270:P160H	P	+	2	0	AD000671.1	40902568	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.641000	0.37197	2.632000	0.89209	0.561000	0.74099	CCC		0.612	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		A	36210728	C	A	36210728	3	1	245	1	0	0	0	0	1	0	0	0	9623	623	22	5	489	5	MLL4	19	36210728	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	24756950	36210728	22918255	73	17425											
LILRA4	23547	broad.mit.edu	37	chr19	54848149	54848149	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcactggggtgagaCagcaggtaggggttggagct	8	7	20	6	0	1	1	1	1	0	1	1	3	1	2	0	8	2	5	0	8	1	2	rs200134720		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:54848149C>G	ENST00000291759.4	-	6	1274	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	406	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGGGTGAGACAGCAGGTAGG	0.592													C|||	1	0.000199681	0	0	5008	,	,		17657	0.001		0	False		,,,				2504	0					uc002qfj.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1216-1218)ctG>ctC		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.							118	96	103					19																	54848149		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848149C>G	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1218G>C	19.37:g.54848149C>G						LILRA4_uc002qfi.3_Silent_p.L340L	p.L406L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	1275	-	Ovarian(34;0.19)		406			Ig-like C2-type 4.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.1218G>C	CCDS12890.1																																																																																				0.592	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		G	54848149	C	G	54848149	2	3	245	1	0	0	0	0	0	0	0	1	8787	465	17	5		5	LILRA4	19	54848149	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	18637421	54848149	4280834	74	17426											
ZIM3	114026	broad.mit.edu	37	chr19	57646590	57646590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggtttttcttctggataAaggtatttccacatagatca	11	16	8	6	0	3	2	1	1	2	1	4	3	4	3	1	3	0	2	1	3	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:57646590A>T	ENST00000269834.1	-	5	1500	c.1115T>A	c.(1114-1116)tTt>tAt	p.F372Y	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCTGGATAAAGGTATTTCC	0.378																																						uc002qnz.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1114-1116)tTt>tAt		Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.							128	130	129					19																	57646590		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646590A>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1115T>A	19.37:g.57646590A>T	ENSP00000269834:p.Phe372Tyr						p.F372Y	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1501	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	372					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1115T>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035001	0.35893	.	.	ENSG00000141946	ENST00000269834	T	0.40476	1.03	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58177	0.2104	L	0.61387	1.9	0.09310	N	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.41484	-0.9506	9	0.87932	D	0	.	8.871	0.35316	1.0:0.0:0.0:0.0	.	372	Q96PE6	ZIM3_HUMAN	Y	372	ENSP00000269834:F372Y	ENSP00000269834:F372Y	F	-	2	0	ZIM3	62338402	0.998000	0.40836	0.002000	0.10522	0.150000	0.21749	4.333000	0.59285	1.237000	0.43756	0.260000	0.18958	TTT		0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			T	57646590	A	T	57646590	3	4	245	1	0	0	0	0	1	0	0	0	17682	14	1	5	307	5	ZIM3	19	57646590	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	2798441	57646590	1482393	75	17427											
SEMG1	6406	broad.mit.edu	37	chr20	43836974	43836974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagccaaaaggcaaataaaAtatcataccaatcttcaagt	20	9	4	8	0	3	0	2	0	1	0	3	0	3	0	2	1	2	1	2	1	10	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr20:43836974A>G	ENST00000372781.3	+	2	1093	c.1036A>G	c.(1036-1038)Ata>Gta	p.I346V	SEMG1_ENST00000244069.6_Missense_Mutation_p.I286V	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	346	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGCAAATAAAATATCATACCA	0.393																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							82	76	78					20																	43836974		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836974A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1036A>G	20.37:g.43836974A>G	ENSP00000361867:p.Ile346Val					SEMG2_uc002xni.2_Missense_Mutation_p.I346V|SEMG2_uc002xnj.2_Missense_Mutation_p.I286V		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.018347	0.00418	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08720	3.06;3.06	1.59	1.59	0.23543	.	.	.	.	.	T	0.07324	0.0185	L	0.58428	1.81	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.20384	0.002;0.029	T	0.47129	-0.9141	9	0.05959	T	0.93	.	5.2631	0.15584	1.0:0.0:0.0:0.0	.	286;346	P04279-2;P04279	.;SEMG1_HUMAN	V	286;346	ENSP00000244069:I286V;ENSP00000361867:I346V	ENSP00000244069:I286V	I	+	1	0	SEMG1	43270388	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.256000	0.18351	0.986000	0.38683	0.332000	0.21555	ATA		0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		G	43836974	A	G	43836974	3	3	245	1	0	0	0	0	1	0	0	0	14044	101	4	4	1042	4	SEMG1	20	43836974	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		43836974	19188546	76	17428											
UBASH3A	53347	broad.mit.edu	37	chr21	43846877	43846877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagcagcagatgcagcgGggaatttcttccacaaacgg	12	6	12	11	2	1	1	0	0	1	1	2	2	2	2	2	3	6	3	2	3	2	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr21:43846877G>A	ENST00000319294.6	+	8	1149	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	UBASH3A_ENST00000398367.1_Missense_Mutation_p.G335E|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G335E	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	373					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGATGCAGCGGGGAATTTCTT	0.473																																						uc002zbe.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1117-1119)gGg>gAg		Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.							114	101	105					21																	43846877		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43846877G>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1118G>A	21.37:g.43846877G>A	ENSP00000317327:p.Gly373Glu					UBASH3A_uc002zbf.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpe.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	p.G373E	NM_018961	NP_061834	P57075	UBS3A_HUMAN			7	1202	+			373					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1118G>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	0.687	-0.796036	0.02862	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.08807	3.22;3.22;3.05	4.19	0.184	0.15086	.	0.953093	0.08744	N	0.900057	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B;B;B	0.25850	0.047;0.023;0.136	B;B;B	0.24541	0.054;0.023;0.036	T	0.44205	-0.9343	10	0.07030	T	0.85	-16.3933	2.7709	0.05334	0.1026:0.348:0.3708:0.1786	.	335;335;373	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	E	335;373;335	ENSP00000291535:G335E;ENSP00000317327:G373E;ENSP00000381408:G335E	ENSP00000291535:G335E	G	+	2	0	UBASH3A	42719946	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	0.949000	0.29109	0.145000	0.18977	-1.083000	0.02208	GGG		0.473	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		A	43846877	G	A	43846877	3	1	245	1	0	0	0	0	1	0	0	0	16836	1232	43	3	1148	3	UBASH3A	21	43846877	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		43846877	4283018	77	17429											
GRAP2	9402	broad.mit.edu	37	chr22	40364194	40364194	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaccagcaccagccacAgcctccgcaatatgccccag	11	3	8	19	1	0	0	0	0	0	0	1	0	1	0	7	0	5	4	7	0	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr22:40364194A>C	ENST00000344138.4	+	6	871	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	GRAP2_ENST00000399090.2_Missense_Mutation_p.Q90P|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q131P|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q203P|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q163P|GRAP2_ENST00000540310.1_Missense_Mutation_p.Q137P	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	203					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						caccagccacagcctccgcaa	0.617																																						uc003ayh.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(607-609)cAg>cCg		Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.							38	32	34					22																	40364194		2201	4299	6500	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40364194A>C	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.608A>C	22.37:g.40364194A>C	ENSP00000339186:p.Gln203Pro					GRAP2_uc011aom.2_Missense_Mutation_p.Q177P|GRAP2_uc011aon.2_Missense_Mutation_p.Q137P|GRAP2_uc010gya.2_Missense_Mutation_p.Q203P|GRAP2_uc011aoo.2_Missense_Mutation_p.Q131P|GRAP2_uc011aop.2_Missense_Mutation_p.Q163P|GRAP2_uc011aoq.2_Missense_Mutation_p.Q90P|GRAP2_uc003ayj.2_Missense_Mutation_p.Q203P	p.Q203P	NM_004810	NP_004801	O75791	GRAP2_HUMAN			5	871	+			203					B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.608A>C	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	4.949	0.176390	0.09443	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74106	-0.27;-0.81;1.62;1.03;1.77;-0.27	3.54	-6.64	0.01801	.	3.660900	0.01244	U	0.008684	T	0.45915	0.1366	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.33675	-0.9859	10	0.28530	T	0.3	-0.6292	4.2897	0.10872	0.2855:0.1986:0.0:0.5159	.	90;203;137;177;203	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	P	203;163;177;137;131;90;203	ENSP00000339186:Q203P;ENSP00000446350:Q163P;ENSP00000444734:Q137P;ENSP00000442195:Q131P;ENSP00000382040:Q90P;ENSP00000385607:Q203P	ENSP00000339186:Q203P	Q	+	2	0	GRAP2	38694140	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.091000	0.11146	-0.879000	0.04002	-0.505000	0.04504	CAG		0.617	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		C	40364194	A	C	40364194	3	2	245	1	0	0	0	0	1	0	0	0	6754	188	7	5	626	5	GRAP2	22	40364194	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		40364194	10940372	78	17430											
EIF2S3	1968	broad.mit.edu	37	chrX	24075581	24075581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaatccacagtcgtcaaAgctatttctggagttcatac	12	11	9	9	1	3	0	2	0	1	0	5	2	4	2	1	2	2	2	1	2	4	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chrX:24075581A>T	ENST00000253039.4	+	3	430	c.177A>T	c.(175-177)aaA>aaT	p.K59N		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	59	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CAGTCGTCAAAGCTATTTCTG	0.328																																						uc004dbc.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(175-177)aaA>aaT		Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.							68	64	65					X																	24075581		2203	4300	6503	SO:0001583	missense	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24075581A>T	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.177A>T	X.37:g.24075581A>T	ENSP00000253039:p.Lys59Asn						p.K59N	NM_001415	NP_001406	P41091	IF2G_HUMAN			2	198	+			59					B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	c.177A>T	CCDS14210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.032529|4.032529	0.75504|0.75504	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000253039|ENST00000423068	T|.	0.59772|.	0.24|.	5.22|5.22	2.67|2.67	0.31697|0.31697	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73377|0.73377	0.3579|0.3579	M|M	0.87900|0.87900	2.915|2.915	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.67145|.	0.996|.	D|.	0.70716|.	0.97|.	T|T	0.72551|0.72551	-0.4259|-0.4259	10|5	0.62326|.	D|.	0.03|.	.|.	6.6451|6.6451	0.22931|0.22931	0.7649:0.1517:0.0834:0.0|0.7649:0.1517:0.0834:0.0	.|.	59|.	P41091|.	IF2G_HUMAN|.	N|C	59|59	ENSP00000253039:K59N|.	ENSP00000253039:K59N|.	K|S	+|+	3|1	2|0	EIF2S3|EIF2S3	23985502|23985502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.218000|2.218000	0.42889|0.42889	0.741000|0.741000	0.32674|0.32674	0.417000|0.417000	0.27973|0.27973	AAA|AGC		0.328	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		T	24075581	A	T	24075581	3	4	245	1	0	0	0	0	1	0	0	0	5011	69	3	5	187	5	EIF2S3	23	24075581	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		24075581	131194979	79	17431											
UBE4B	10277	broad.mit.edu	37	chr1	10221285	10221285	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctggagtctctgaagCgaatccatgaagtgcaggaa	14	8	12	7	1	2	2	0	2	2	0	4	5	3	4	1	2	2	1	1	2	5	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:10221285C>T	ENST00000253251.8	+	22	3591	c.2752C>T	c.(2752-2754)Cga>Tga	p.R918*	UBE4B_ENST00000343090.6_Nonsense_Mutation_p.R1047*|UBE4B_ENST00000377157.3_Nonsense_Mutation_p.R802*|RNU6-828P_ENST00000364876.1_RNA					ubiquitination factor E4B									p.R918*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTCTCTGAAGCGAATCCATGA	0.493																																						uc021ogc.1																			1	Substitution - Nonsense(1)	p.R918*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3292-3294)Cga>Tga		Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.							100	93	96					1																	10221285		2203	4300	6503	SO:0001587	stop_gained	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10221285C>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2752C>T	1.37:g.10221285C>T	ENSP00000253251:p.Arg918*					UBE4B_uc001aqs.4_Nonsense_Mutation_p.R1047*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Nonsense_Mutation_p.R502*	p.R1098*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	23	3980	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1047						Nonsense_Mutation	SNP	ENST00000253251.8	37	c.3292C>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	50	16.086433	0.99854	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6529	19.209	0.93747	0.0:1.0:0.0:0.0	.	.	.	.	X	918;802;1047	.	ENSP00000253251:R918X	R	+	1	2	UBE4B	10143872	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.914000	0.69964	2.536000	0.85505	0.563000	0.77884	CGA		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10221285	C	T	10221285	4	4	246	1	0	0	0	0	0	1	0	0	16880	760	27	1	3229	1	UBE4B	1	10221285	Nonsense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		10221285	239029336	1	17432											
NGF	4803	broad.mit.edu	37	chr1	115828973	115828973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccttgatgtctgtggcGgtggtcttatccccaaccca	5	13	10	13	1	2	1	0	1	2	0	3	1	3	1	4	3	2	0	4	3	2	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:115828973G>A	ENST00000369512.2	-	3	612	c.444C>T	c.(442-444)acC>acT	p.T148T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	148					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGTCTGTGGCGGTGGTCTTAT	0.527																																						uc021osd.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(442-444)acC>acT		Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	Clenbuterol(DB01407)						131	113	119					1																	115828973		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828973G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.444C>T	1.37:g.115828973G>A						NGF_uc001efu.1_Silent_p.T148T	p.T148T	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	0	444	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	148					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.444C>T	CCDS882.1																																																																																				0.527	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		A	115828973	G	A	115828973	2	1	246	1	0	0	0	0	0	0	0	1	10395	1103	39	2		2	NGF	1	115828973	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	105607688	115828973	133421648	2	17433											
GJA8	2703	broad.mit.edu	37	chr1	147380211	147380211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcacggccgcagagttCgtgtggggggatgagcaatc	7	8	17	9	3	0	2	0	1	0	1	2	3	0	3	1	5	1	4	1	5	1	2	rs267598000		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:147380211C>T	ENST00000369235.1	+	1	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_ENST00000240986.4_Silent_p.F43F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	43					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592																																					Melanoma(76;1255 1795 8195 52096)	uc021ovm.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(127-129)ttC>ttT		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							106	92	97					1																	147380211		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380211C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.129C>T	1.37:g.147380211C>T						GJA8_uc001epu.2_Silent_p.F43F	p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN			0	129	+	all_hematologic(923;0.0276)		43					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.129C>T	CCDS30834.1																																																																																				0.592	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		T	147380211	C	T	147380211	2	4	246	1	0	0	0	0	0	0	0	1	6405	883	31	2		2	GJA8	1	147380211	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	31551238	147380211	101870410	3	17434											
RPTN	126638	broad.mit.edu	37	chr1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtggaaactctggcctTgtctgtctgtctgaccatag																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152128025_152128028delTGTC	ENST00000316073.3	-	3	1611_1614	c.1547_1550delGACA	c.(1546-1551)agacaafs	p.RQ516fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	516	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1546-1551)agacaafs		Homo sapiens repetin (RPTN), mRNA.																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128025_152128028delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1547_1550delGACA	1.37:g.152128033_152128036delTGTC	ENSP00000317895:p.Arg516fs						p.R516fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1612_1615	-			516			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1547_1550delGACA	CCDS41397.1																																																																																				0.5	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		-	152128028	TGTC	-	152128025	7	5	246	1	0	1	0	1	0	0	0	0	13664	1812	63	0	808	0	RPTN	1	152128025	Frame_Shift_Del	DEL	TGTC	TCGA-41-3392-01A-01D-1495-08	4747814	152128025	97122596	4	17435											
FLG	2312	broad.mit.edu	37	chr1	152278815	152278815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgagtgcctggagccGtctcctgattgttcctcatt	5	13	10	13	1	2	2	1	2	1	0	4	4	3	3	5	1	2	1	5	1	0	3	rs200790612		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152278815G>A	ENST00000368799.1	-	3	8582	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2849	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8545-8547)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.		G		2,4290	4.2+/-10.8	0,2,2144	403	606	539		8547	-4.7	0	1		539	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,3,6443	AA,AG,GG		0.0116,0.0466,0.0233		2849/4062	152278815	3,12889	2146	4300	6446	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278815G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8547C>T	1.37:g.152278815G>A							p.D2849D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2849			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8547C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152278815	G	A	152278815	2	1	246	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152278815	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	150790	152278815	96971806	5	17436											
SPTA1	6708	broad.mit.edu	37	chr1	158604390	158604390	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccaaagcattcttttcAttgatccaagcttcctcttc	10	14	4	13	0	3	1	1	1	2	0	6	1	5	1	3	0	3	2	3	0	2	6	rs541384970		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:158604390A>C	ENST00000368147.4	-	39	5688	c.5508T>G	c.(5506-5508)aaT>aaG	p.N1836K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1836			N -> S (in dbSNP:rs16830483).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTCTTTTCATTGATCCAAG	0.418																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5506-5508)aaT>aaG		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							197	180	186					1																	158604390		1957	4139	6096	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158604390A>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5508T>G	1.37:g.158604390A>C	ENSP00000357129:p.Asn1836Lys						p.N1836K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			38	5707	-	all_hematologic(112;0.0378)		1836		N -> S (in dbSNP:rs16830483).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5508T>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497193	0.44352	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.64	0.407	0.16371	.	1.056520	0.07576	N	0.919371	T	0.09905	0.0243	N	0.10685	0.025	0.29651	N	0.843989	B	0.30114	0.269	B	0.34301	0.179	T	0.31833	-0.9929	10	0.13108	T	0.6	.	7.8381	0.29382	0.5303:0.3968:0.0729:0.0	.	1836	P02549	SPTA1_HUMAN	K	1836	ENSP00000357130:N1836K;ENSP00000357129:N1836K	ENSP00000357129:N1836K	N	-	3	2	SPTA1	156871014	0.993000	0.37304	0.166000	0.22797	0.952000	0.60782	1.212000	0.32394	-0.084000	0.12595	0.528000	0.53228	AAT		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158604390	A	C	158604390	3	2	246	1	0	0	0	0	1	0	0	0	15115	214	8	5	1807	5	SPTA1	1	158604390	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	6325575	158604390	90646231	6	17437											
REN	5972	broad.mit.edu	37	chr1	204129738	204129738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgtccctgttgaatagcGgagggtgagttctgttccat	7	13	13	8	1	1	2	0	2	1	0	3	4	3	3	2	2	1	3	2	2	2	4	rs191049685		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:204129738G>A	ENST00000272190.8	-	4	470	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	REN_ENST00000367195.2_Missense_Mutation_p.R148C	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	148					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTTGAATAGCGGAGGGTGAGT	0.562													G|||	1	0.000199681	0	0	5008	,	,		20957	0.001		0	False		,,,				2504	0					uc001haq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(442-444)Cgc>Tgc		Homo sapiens renin (REN), mRNA.	Aliskiren(DB01258)|Remikiren(DB00212)						192	161	172					1																	204129738		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204129738G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.442C>T	1.37:g.204129738G>A	ENSP00000272190:p.Arg148Cys						p.R148C	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	486	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		148					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.442C>T	CCDS30981.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.98	1.505230	0.26949	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.58652	0.32;0.32	4.86	1.69	0.24217	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.650420	0.17447	N	0.173935	T	0.51787	0.1695	M	0.66939	2.045	0.46356	D	0.999001	P	0.45176	0.852	B	0.40329	0.326	T	0.53380	-0.8447	10	0.87932	D	0	.	7.3288	0.26571	0.0826:0.0:0.6215:0.296	.	148	P00797	RENI_HUMAN	C	148;67;148	ENSP00000356163:R148C;ENSP00000272190:R148C	ENSP00000272190:R148C	R	-	1	0	REN	202396361	1.000000	0.71417	0.961000	0.40146	0.009000	0.06853	3.658000	0.54482	0.451000	0.26802	-0.136000	0.14681	CGC		0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		A	204129738	G	A	204129738	3	1	246	1	0	0	0	0	1	0	0	0	13224	1116	39	2	806	2	REN	1	204129738	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	45525348	204129738	45120883	7	17438											
RASSF5	83593	broad.mit.edu	37	chr1	206760184	206760184	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctccatccctgaactTcagaacttcctaacaatcct	10	12	3	16	0	2	2	1	1	1	1	6	2	5	2	5	0	3	0	5	0	4	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:206760184T>G	ENST00000355294.4	+	6	1188	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000304534.8_Silent_p.L224L|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_3'UTR	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	377	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCCTGAACTTCAGAACTTCC	0.458																																					GBM(162;656 1984 11916 22872 31529)	uc001hed.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(1129-1131)ctT>ctG		Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.							141	143	143					1																	206760184		2203	4300	6503	SO:0001819	synonymous_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206760184T>G	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1131T>G	1.37:g.206760184T>G						RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.3_3'UTR|RASSF5_uc001hef.3_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR|RASSF5_uc021pie.1_5'Flank	p.L377L	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	1188	+	Breast(84;0.183)		377			SARAH.		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	c.1131T>G	CCDS30998.1																																																																																				0.458	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		G	206760184	T	G	206760184	2	3	246	1	0	0	0	0	0	0	0	1	13089	1770	62	5		5	RASSF5	1	206760184	Silent	SNP	T	TCGA-41-3392-01A-01D-1495-08	2630446	206760184	42490437	8	17439											
IRF6	3664	broad.mit.edu	37	chr1	209963984	209963984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaatggcatgaccgctgaCctccaggatcagtcctctgt	10	10	9	12	1	2	2	1	2	1	0	4	3	4	3	4	2	0	2	4	2	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:209963984C>T	ENST00000367021.3	-	7	1088	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	IRF6_ENST00000542854.1_Missense_Mutation_p.V211I|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	306					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGACCGCTGACCTCCAGGATC	0.532										HNSCC(57;0.16)																												uc001hhq.2																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(916-918)Gtc>Atc		Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.							106	86	93					1																	209963984		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963984C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.916G>A	1.37:g.209963984C>T	ENSP00000355988:p.Val306Ile	HNSCC(57;0.16)				IRF6_uc010psm.2_Missense_Mutation_p.V211I	p.V306I	NM_006147	NP_001193625	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	6	1220	-			306					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.916G>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089518	0.55968	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94931	-3.56;-3.56	6.17	6.17	0.99709	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	L	0.52573	1.65	0.80722	D	1	B	0.27264	0.173	B	0.34180	0.177	D	0.89548	0.3797	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	306	O14896	IRF6_HUMAN	I	306;211	ENSP00000355988:V306I;ENSP00000440532:V211I	.	V	-	1	0	IRF6	208030607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.468000	0.60162	2.941000	0.99782	0.655000	0.94253	GTC		0.532	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		T	209963984	C	T	209963984	3	4	246	1	0	0	0	0	1	0	0	0	7834	507	18	3	499	3	IRF6	1	209963984	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	3203800	209963984	39286637	9	17440											
OR2T12	127064	broad.mit.edu	37	chr1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaaggccttcttgcGggcttctgtagagcgcatga	7	10	15	9	2	2	2	0	1	2	1	2	2	2	2	1	4	2	4	1	4	2	4	rs200352170		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:248458187G>A	ENST00000317996.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522																																						uc010pzj.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(694-696)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.							100	94	96					1																	248458187		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458187G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.694C>T	1.37:g.248458187G>A	ENSP00000324583:p.Arg232Cys						p.R232C	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		0	694	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		232						Missense_Mutation	SNP	ENST00000317996.1	37	c.694C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	10.81	1.454126	0.26161	.	.	ENSG00000177201	ENST00000317996	T	0.00337	8.05	1.55	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.870947	0.09313	U	0.819284	T	0.00384	0.0012	M	0.85945	2.785	0.09310	N	0.999998	B	0.24368	0.102	B	0.24269	0.052	T	0.31833	-0.9929	10	0.59425	D	0.04	.	7.1649	0.25685	0.0:0.0:0.5344:0.4655	.	232	Q8NG77	O2T12_HUMAN	C	232	ENSP00000324583:R232C	ENSP00000324583:R232C	R	-	1	0	OR2T12	246524810	0.000000	0.05858	0.169000	0.22859	0.670000	0.39368	-0.554000	0.06006	0.645000	0.30675	0.175000	0.17021	CGC		0.522	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		A	248458187	G	A	248458187	3	1	246	1	0	0	0	0	1	0	0	0	11019	1116	39	2	271	2	OR2T12	1	248458187	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	38494203	248458187	792434	10	17441											
NBAS	51594	broad.mit.edu	37	chr2	15615941	15615941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagcaccagagcatcgaGctaaagtcactgcactgtct	13	9	8	11	1	2	1	1	0	1	1	3	2	2	1	1	0	4	4	1	0	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:15615941G>A	ENST00000281513.5	-	14	1236	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	NBAS_ENST00000441750.1_Missense_Mutation_p.A404V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	404					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAGCATCGAGCTAAAGTCAC	0.398																																						uc002rcc.1																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1210-1212)gCt>gTt		Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.							60	61	60					2																	15615941		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15615941G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1211C>T	2.37:g.15615941G>A	ENSP00000281513:p.Ala404Val					NBAS_uc002rcd.1_Non-coding_Transcript	p.A404V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			13	1237	-			404					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1211C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799344	0.70567	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.17370	2.28;2.37	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.48986	1.54	0.45634	D	0.998564	D	0.89917	1.0	D	0.83275	0.996	T	0.03335	-1.1047	10	0.87932	D	0	.	20.6949	0.99706	0.0:0.0:1.0:0.0	.	404	A2RRP1	NBAS_HUMAN	V	404	ENSP00000413201:A404V;ENSP00000281513:A404V	ENSP00000281513:A404V	A	-	2	0	NBAS	15533392	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	9.823000	0.99369	2.899000	0.99337	0.655000	0.94253	GCT		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		A	15615941	G	A	15615941	3	1	246	1	0	0	0	0	1	0	0	0	10186	971	34	3	6060	3	NBAS	2	15615941	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		15615941	227583432	11	17442											
WDR92	116143	broad.mit.edu	37	chr2	68358402	68358402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctttgtaacgatcagtaCtctcaccgtttggtcaaatg	10	13	9	9	2	3	0	3	0	1	0	4	2	3	0	1	1	3	4	1	1	3	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:68358402C>G	ENST00000295121.6	-	8	1158	c.1042G>C	c.(1042-1044)Gta>Cta	p.V348L	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_Intron	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	348					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACGATCAGTACTCTCACCGTT	0.478																																						uc002see.1																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(1042-1044)Gta>Cta		Homo sapiens WD repeat domain 92 (WDR92), mRNA.							137	130	132					2																	68358402		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68358402C>G	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.1042G>C	2.37:g.68358402C>G	ENSP00000295121:p.Val348Leu					WDR92_uc002sed.1_Intron	p.V348L	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN			7	1123	-			348					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.1042G>C	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616856	0.87359	.	.	ENSG00000243667	ENST00000295121	T	0.59364	0.27	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.56097	D	0.000033	T	0.67059	0.2853	M	0.90483	3.12	0.80722	D	1	B	0.25312	0.123	B	0.20184	0.028	T	0.66404	-0.5932	10	0.41790	T	0.15	.	18.536	0.91010	0.0:1.0:0.0:0.0	.	348	Q96MX6	WDR92_HUMAN	L	348	ENSP00000295121:V348L	ENSP00000295121:V348L	V	-	1	0	WDR92	68211906	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.445000	0.80570	2.890000	0.99128	0.585000	0.79938	GTA		0.478	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		G	68358402	C	G	68358402	3	3	246	1	0	0	0	0	1	0	0	0	17336	565	20	5	35	5	WDR92	2	68358402	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	52742461	68358402	174840971	12	17443											
TTC31	64427	broad.mit.edu	37	chr2	74710499	74710499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgctgctgcacccaaaCtttgcaaggaattcggtcca	10	9	10	12	2	0	0	0	0	0	0	3	1	1	1	2	3	4	4	2	3	3	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:74710499C>T	ENST00000233623.5	+	2	98	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	TTC31_ENST00000410003.1_Missense_Mutation_p.L31F|CCDC142_ENST00000471713.1_5'Flank|CCDC142_ENST00000290418.4_5'Flank|TTC31_ENST00000442235.2_5'UTR|TTC31_ENST00000463189.1_3'UTR|CCDC142_ENST00000393965.3_5'Flank	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	31										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCACCCAAACTTTGCAAGGA	0.582											OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002slt.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(91-93)Ctt>Ttt		Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.							65	72	70					2																	74710499		1948	4157	6105	SO:0001583	missense	64427						binding	g.chr2:74710499C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.91C>T	2.37:g.74710499C>T	ENSP00000233623:p.Leu31Phe		OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	TTC31_uc002sls.2_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.3_5'Flank|CCDC142_uc002slq.3_5'Flank|CCDC142_uc002slr.3_5'Flank|CCDC142_uc002slp.2_5'Flank	p.L31F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			1	114	+			31					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.91C>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151614	0.57151	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.48836	0.8;0.8	4.27	2.39	0.29439	.	0.153488	0.29113	N	0.013113	T	0.34513	0.0900	L	0.51422	1.61	0.80722	D	1	B	0.31611	0.331	B	0.25884	0.064	T	0.31280	-0.9949	10	0.87932	D	0	-0.7113	4.5464	0.12083	0.2208:0.6657:0.0:0.1135	.	31	Q49AM3	TTC31_HUMAN	F	31	ENSP00000387213:L31F;ENSP00000233623:L31F	ENSP00000233623:L31F	L	+	1	0	TTC31	74564007	0.199000	0.23386	0.861000	0.33841	0.903000	0.53119	0.259000	0.18405	1.080000	0.41073	0.655000	0.94253	CTT		0.582	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		T	74710499	C	T	74710499	3	4	246	1	0	0	0	0	1	0	0	0	16697	565	20	3	97	3	TTC31	2	74710499	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	6352097	74710499	168488874	13	17444											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135890504	135890504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgagaaaccattagatGgaactacttcaacagataat	16	12	6	7	0	2	3	1	1	1	3	2	5	2	4	1	1	4	0	1	1	6	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:135890504G>C	ENST00000264158.8	+	14	1319	c.1276G>C	c.(1276-1278)Gga>Cga	p.G426R	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G382R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G426R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	426					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCATTAGATGGAACTACTTC	0.308																																						uc010fnf.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1276-1278)Gga>Cga		Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.							111	117	115					2																	135890504		2203	4298	6501	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135890504G>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1276G>C	2.37:g.135890504G>C	ENSP00000264158:p.Gly426Arg					RAB3GAP1_uc002tuj.3_Missense_Mutation_p.G426R|RAB3GAP1_uc010fng.3_Missense_Mutation_p.G251R|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	p.G426R	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	13	1319	+			426					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.1276G>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542058	0.27563	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.42513	0.98;0.97;0.98	5.08	5.08	0.68730	.	0.659654	0.16169	N	0.226390	T	0.40767	0.1130	L	0.53249	1.67	0.31814	N	0.626819	B;B	0.27380	0.177;0.013	B;B	0.26310	0.068;0.03	T	0.43669	-0.9377	10	0.15066	T	0.55	-2.8054	18.0941	0.89483	0.0:0.0:1.0:0.0	.	426;426	C9J837;Q15042	.;RB3GP_HUMAN	R	426;382;426	ENSP00000264158:G426R;ENSP00000444306:G382R;ENSP00000411418:G426R	ENSP00000264158:G426R	G	+	1	0	RAB3GAP1	135606974	1.000000	0.71417	0.819000	0.32651	0.568000	0.35870	3.713000	0.54882	2.360000	0.80028	0.585000	0.79938	GGA		0.308	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		C	135890504	G	C	135890504	3	2	246	1	0	0	0	0	1	0	0	0	12935	1349	47	5	1330	5	RAB3GAP1	2	135890504	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	61180005	135890504	107308869	14	17445											
NEB	4703	broad.mit.edu	37	chr2	152580858	152580858	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttatccttggtgtcttcCcagttctgcttgtataaaac	8	17	6	10	0	2	0	0	0	2	0	4	0	4	0	2	1	3	3	2	1	5	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:152580858C>T	ENST00000172853.10	-	8	675	c.528G>A	c.(526-528)tgG>tgA	p.W176*	NEB_ENST00000604864.1_Nonsense_Mutation_p.W176*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W176*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W176*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W176*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W176*			P20929	NEBU_HUMAN	nebulin	176					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGTCTTCCCAGTTCTGCT	0.493																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(526-528)tgG>tgA		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.							112	119	117					2																	152580858		1994	4163	6157	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152580858C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.528G>A	2.37:g.152580858C>T	ENSP00000172853:p.Trp176*					NEB_uc002txu.3_Nonsense_Mutation_p.W176*|NEB_uc021vrc.1_Nonsense_Mutation_p.W176*|NEB_uc010fnx.3_Nonsense_Mutation_p.W176*|NEB_uc021vrd.1_Nonsense_Mutation_p.W176*	p.W176*	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	5	557	-			176					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.528G>A		.	.	.	.	.	.	.	.	.	.	C	39	7.630034	0.98399	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	.	.	.	X	176	.	ENSP00000172853:W176X	W	-	3	0	NEB	152289104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.183000	0.77697	2.861000	0.98227	0.655000	0.94253	TGG		0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152580858	C	T	152580858	4	4	246	1	0	0	0	0	0	1	0	0	10302	624	22	3	25858	3	NEB	2	152580858	Nonsense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	16690354	152580858	90618515	15	17446											
TTN	7273	broad.mit.edu	37	chr2	179610717	179610717	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatatttcagaatctccCatggtgaggaatccccgaca	13	9	8	11	1	2	2	1	1	1	1	4	4	3	3	3	2	0	1	3	2	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:179610717C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.M5470I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATCTCCCATGGTGAGGA	0.398																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							113	112	112					2																	179610717		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610717C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4069G>A	2.37:g.179610717C>T						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.M5470I		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	2.681	-0.275410	0.05679	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.54866	0.55	6.07	5.02	0.67125	.	.	.	.	.	T	0.23846	0.0577	N	0.01576	-0.805	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11966	-1.0566	9	0.42905	T	0.14	.	7.9989	0.30284	0.1629:0.7482:0.0:0.089	.	5470	Q8WZ42-6	.	I	5470;751	ENSP00000354117:M5470I	ENSP00000304714:M751I	M	-	3	0	TTN	179318962	0.968000	0.33430	1.000000	0.80357	0.129000	0.20672	0.388000	0.20735	2.884000	0.98904	0.655000	0.94253	ATG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179610717	C	T	179610717	1	4	246	0	1	0	0	0	0	0	0	0	16732	594	21	3		3	TTN	2	179610717	Intron	SNP	C	TCGA-41-3392-01A-01D-1495-08	27029859	179610717	63588656	16	17447											
C2orf83	56918	broad.mit.edu	37	chr2	228476292	228476292	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggcccgcagggtgaaTgaaggtcagcccgcatgtct	8	7	14	12	2	2	2	1	2	1	0	2	2	2	2	3	3	1	2	3	3	2	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:228476292T>A	ENST00000264387.4	-	3	357	c.271A>T	c.(271-273)Att>Ttt	p.I91F	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	91					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCAGGGTGAATGAAGGTCAGC	0.517																																						uc002vph.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						c.(271-273)Att>Ttt		Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.							95	99	98					2																	228476292		2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476292T>A		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.271A>T	2.37:g.228476292T>A	ENSP00000264387:p.Ile91Phe					C2orf83_uc010zlu.2_3'UTR	p.I91F	NM_020161	NP_064546	Q53S99	CB083_HUMAN			2	506	-			91					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.271A>T	CCDS33388.1	.	.	.	.	.	.	.	.	.	.	T	9.831	1.188383	0.21954	.	.	ENSG00000042304	ENST00000264387	T	0.61040	0.14	2.2	-4.39	0.03611	.	.	.	.	.	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	7	0.72032	D	0.01	.	4.854	0.13550	0.0:0.1349:0.3887:0.4764	.	91	Q53S99	CB083_HUMAN	F	91	ENSP00000264387:I91F	ENSP00000264387:I91F	I	-	1	0	C2orf83	228184536	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.918000	0.01574	-1.032000	0.03304	-1.563000	0.00883	ATT		0.517	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		A	228476292	T	A	228476292	3	1	246	1	0	0	0	0	1	0	0	0	2198	1464	51	5	185	5	C2orf83	2	228476292	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08	48865575	228476292	14723081	17	17448											
TADA3	10474	broad.mit.edu	37	chr3	9825867	9825867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattagctcctccttgatGcggctctccagggacttagt	7	12	10	12	1	1	1	0	1	1	0	4	2	3	2	3	2	2	3	3	2	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:9825867G>A	ENST00000301964.2	-	8	1509	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TADA3_ENST00000343450.2_Silent_p.R317R|TADA3_ENST00000440161.1_Silent_p.R317R	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	317					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCCTTGATGCGGCTCTCCA	0.622																																						uc003bsx.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(949-951)cgC>cgT		Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.							45	43	44					3																	9825867		2203	4300	6503	SO:0001819	synonymous_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9825867G>A	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.951C>T	3.37:g.9825867G>A						TADA3_uc010hcn.1_Silent_p.R317R|TADA3_uc003bsy.3_Silent_p.R317R|TADA3_uc003bsw.1_Silent_p.R146R	p.R317R	NM_006354	NP_006345	O75528	TADA3_HUMAN			7	1499	-			317					Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	c.951C>T	CCDS2583.1																																																																																				0.622	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			A	9825867	G	A	9825867	2	1	246	1	0	0	0	0	0	0	0	1	15509	1306	46	3		3	TADA3	3	9825867	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08		9825867	188196563	18	17449											
PLCL2	23228	broad.mit.edu	37	chr3	17052411	17052411	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttagaaaaccactgttccAttaaacaacagaaggtaatg	17	10	7	7	0	0	2	0	0	0	2	1	2	1	2	2	1	3	3	2	1	8	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:17052411A>T	ENST00000418129.2	+	2	1660	c.1195A>T	c.(1195-1197)Att>Ttt	p.I399F	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.I399F|PLCL2_ENST00000432376.1_Missense_Mutation_p.I399F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	525					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACTGTTCCATTAAACAACA	0.373																																						uc011awc.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1549-1551)Att>Ttt		Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.							66	63	64					3																	17052411		2203	4299	6502	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052411A>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1195A>T	3.37:g.17052411A>T	ENSP00000409637:p.Ile399Phe					PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.2_Missense_Mutation_p.I399F	p.I517F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			2	1645	+			525			PI-PLC X-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1549A>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	A	6.871	0.530028	0.13127	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.53423	0.62;0.62;0.62	5.96	4.81	0.61882	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.188840	0.51477	D	0.000089	T	0.30262	0.0759	.	.	.	0.23845	N	0.996682	B	0.28178	0.202	B	0.36335	0.222	T	0.30563	-0.9974	9	0.10111	T	0.7	.	5.7469	0.18124	0.7151:0.143:0.1418:0.0	.	525	Q9UPR0	PLCL2_HUMAN	F	399;526;399;399	ENSP00000409637:I399F;ENSP00000379979:I399F;ENSP00000412836:I399F	ENSP00000285094:I526F	I	+	1	0	PLCL2	17027415	0.424000	0.25490	0.260000	0.24451	0.678000	0.39670	1.199000	0.32235	1.089000	0.41292	0.533000	0.62120	ATT		0.373	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			T	17052411	A	T	17052411	3	4	246	1	0	0	0	0	1	0	0	0	12040	217	8	5	1573	5	PLCL2	3	17052411	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	7226544	17052411	180970019	19	17450											
SEC22C	9117	broad.mit.edu	37	chr3	42602655	42602655	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcatcaccccatttgcCacatctgtgtcctccagagt	8	12	5	16	0	3	1	2	0	1	1	5	1	5	1	6	0	1	0	6	0	0	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:42602655C>G	ENST00000264454.3	-	4	623	c.480G>C	c.(478-480)gtG>gtC	p.V160V	SEC22C_ENST00000273156.7_Silent_p.V160V|SEC22C_ENST00000423701.2_Silent_p.V160V|SEC22C_ENST00000536332.1_Silent_p.V90V|SEC22C_ENST00000417572.1_Silent_p.V160V|SEC22C_ENST00000493107.1_5'UTR			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	160					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCCCATTTGCCACATCTGTGT	0.468																																						uc003clj.3																			0				endometrium(1)|large_intestine(2)	3						c.(478-480)gtG>gtC		Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.							133	124	127					3																	42602655		2203	4300	6503	SO:0001819	synonymous_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42602655C>G	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.480G>C	3.37:g.42602655C>G						SEC22C_uc003clh.3_Silent_p.V160V|SEC22C_uc010hic.3_Silent_p.V160V|SEC22C_uc011azo.2_Silent_p.V90V|SEC22C_uc003cli.3_Silent_p.V160V	p.V160V	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	3	690	-			160					O95152|Q68CX3|Q6UW18	Silent	SNP	ENST00000264454.3	37	c.480G>C	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021221	0.19433	.	.	ENSG00000093183	ENST00000451653	.	.	.	5.71	2.82	0.32997	.	.	.	.	.	T	0.36413	0.0966	.	.	.	0.22266	N	0.999243	.	.	.	.	.	.	T	0.20438	-1.0275	4	.	.	.	-16.9816	9.5317	0.39198	0.0:0.6596:0.2687:0.0717	.	.	.	.	R	82	.	.	G	-	1	0	SEC22C	42577659	0.849000	0.29639	0.332000	0.25469	0.994000	0.84299	0.788000	0.26872	0.284000	0.22305	0.655000	0.94253	GGC		0.468	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		G	42602655	C	G	42602655	2	3	246	1	0	0	0	0	0	0	0	1	13990	581	21	5		5	SEC22C	3	42602655	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	25550244	42602655	155419775	20	17451											
ARIH2	10425	broad.mit.edu	37	chr3	48965232	48965232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagcacatgaccagcttaGcttctgtcctaaaggtgagc	11	10	10	10	0	1	3	0	3	1	0	2	3	2	3	2	1	4	3	2	1	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:48965232G>T	ENST00000356401.4	+	3	580	c.241G>T	c.(241-243)Gct>Tct	p.A81S	ARIH2_ENST00000490095.1_Intron|ARIH2_ENST00000449376.1_Missense_Mutation_p.A81S	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	81					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GACCAGCTTAGCTTCTGTCCT	0.483																																						uc003cvb.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(241-243)Gct>Tct		Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.							116	109	111					3																	48965232		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:48965232G>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.241G>T	3.37:g.48965232G>T	ENSP00000348769:p.Ala81Ser					ARIH2_uc003cvc.3_Missense_Mutation_p.A81S|ARIH2_uc003cvf.3_5'UTR|ARIH2_uc010hkl.3_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	p.A81S	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	2	553	+			81					Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.241G>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.240132	0.22711	.	.	ENSG00000177479	ENST00000452882;ENST00000430423;ENST00000356401;ENST00000449376;ENST00000420814;ENST00000449729;ENST00000444790	T;T;D;D;T;T	0.81739	1.51;1.65;-1.53;-1.53;1.51;1.07	5.24	5.24	0.73138	.	0.052689	0.85682	D	0.000000	T	0.59115	0.2170	N	0.11427	0.14	0.58432	D	0.999997	B;B;B;B	0.31193	0.003;0.312;0.15;0.0	B;B;B;B	0.25884	0.002;0.064;0.03;0.001	T	0.61686	-0.7012	10	0.02654	T	1	.	14.1594	0.65436	0.0:0.0:0.8501:0.1499	.	88;81;81;81	B3KMG5;C9JBC5;F8WCS4;O95376	.;.;.;ARI2_HUMAN	S	81;81;81;81;81;81;80	ENSP00000395560:A81S;ENSP00000399788:A81S;ENSP00000348769:A81S;ENSP00000403222:A81S;ENSP00000397225:A81S;ENSP00000404838:A81S	ENSP00000348769:A81S	A	+	1	0	ARIH2	48940236	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.200000	0.77838	2.637000	0.89404	0.551000	0.68910	GCT		0.483	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		T	48965232	G	T	48965232	3	4	246	1	0	0	0	0	1	0	0	0	924	971	34	5	243	5	ARIH2	3	48965232	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	6362577	48965232	149057198	21	17452											
ROBO2	6092	broad.mit.edu	37	chr3	77147196	77147196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggaggactttcccccGcggattgtggagcatccttc	6	9	12	14	3	0	0	0	0	0	0	3	4	2	4	4	4	1	1	4	4	0	3	rs199878362		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:77147196G>A	ENST00000461745.1	+	2	993	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ROBO2_ENST00000487694.3_Silent_p.P47P|ROBO2_ENST00000332191.8_Silent_p.P31P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	31	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTTTCCCCCGCGGATTGTGG	0.537																																						uc011bgk.2																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(91-93)ccG>ccA		Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.							44	47	46					3																	77147196		1941	4128	6069	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147196G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.93G>A	3.37:g.77147196G>A						ROBO2_uc021xat.1_Silent_p.P47P|ROBO2_uc003dpy.4_Silent_p.P31P|ROBO2_uc003dpz.3_Silent_p.P31P|ROBO2_uc011bgj.2_Non-coding_Transcript	p.P31P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	1	736	+			31			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.93G>A	CCDS43109.1																																																																																				0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77147196	G	A	77147196	2	1	246	1	0	0	0	0	0	0	0	1	13514	1087	38	1		1	ROBO2	3	77147196	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	28181964	77147196	120875234	22	17453											
ADCY5	111	broad.mit.edu	37	chr3	123036910	123036910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagatgaagaggaagaCgagcgaggcacacgccacat	17	2	13	9	3	0	4	0	1	0	3	0	7	0	5	1	2	2	2	1	2	3	0	rs201333022		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:123036910C>T	ENST00000462833.1	-	11	3523	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	ADCY5_ENST00000491190.1_Missense_Mutation_p.V404I|ADCY5_ENST00000309879.5_Missense_Mutation_p.V421I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	771					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGAGGAAGACGAGCGAGGCA	0.602																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2311-2313)Gtc>Atc		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							166	136	146					3																	123036910		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123036910C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2311G>A	3.37:g.123036910C>T	ENSP00000419361:p.Val771Ile					ADCY5_uc021xdd.1_Missense_Mutation_p.V421I|ADCY5_uc003egg.2_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	p.V771I	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	10	2311	-			771					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2311G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966376	0.74131	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000008	T	0.35422	0.0931	L	0.48877	1.53	0.80722	D	1	B;P	0.45176	0.274;0.852	B;B	0.36534	0.065;0.227	T	0.14783	-1.0460	10	0.15066	T	0.55	.	19.005	0.92846	0.0:1.0:0.0:0.0	.	771;404	O95622;B3KWA8	ADCY5_HUMAN;.	I	771;404;421;330	ENSP00000419361:V771I;ENSP00000418537:V404I;ENSP00000308685:V421I;ENSP00000420082:V330I	ENSP00000308685:V421I	V	-	1	0	ADCY5	124519600	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.264000	0.78432	2.724000	0.93272	0.491000	0.48974	GTC		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123036910	C	T	123036910	3	4	246	1	0	0	0	0	1	0	0	0	297	536	19	1	1518	1	ADCY5	3	123036910	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	45889714	123036910	74985520	23	17454											
TNFSF10	8743	broad.mit.edu	37	chr3	172241153	172241153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcccaggctgggtccccCctggacctccatcatagcca	6	8	9	18	0	1	0	1	0	0	0	4	1	4	1	7	3	1	1	7	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:172241153C>A	ENST00000241261.2	-	1	144	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	TNFSF10_ENST00000420541.2_Missense_Mutation_p.G8W	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGGGTCCCCCCTGGACCTCC	0.527																																						uc003fid.3																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.(22-24)Ggg>Tgg		Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.							100	89	93					3																	172241153		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172241153C>A	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.22G>T	3.37:g.172241153C>A	ENSP00000241261:p.Gly8Trp					TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.2_Missense_Mutation_p.G8W	p.G8W	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	145	-	Ovarian(172;0.00197)|Breast(254;0.158)		8					A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.22G>T	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147510	0.57151	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	T;T	0.48522	0.81;0.81	5.41	3.59	0.41128	.	0.938103	0.09088	N	0.850224	T	0.62913	0.2467	M	0.68952	2.095	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.61592	0.891;0.782	T	0.47086	-0.9144	10	0.66056	D	0.02	0.0277	8.8729	0.35327	0.0:0.8195:0.0:0.1805	.	8;8	A1Y9B3;P50591	.;TNF10_HUMAN	W	8	ENSP00000241261:G8W;ENSP00000389931:G8W	ENSP00000241261:G8W	G	-	1	0	TNFSF10	173723847	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.384000	0.20668	0.638000	0.30545	0.655000	0.94253	GGG		0.527	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			A	172241153	C	A	172241153	3	1	246	1	0	0	0	0	1	0	0	0	16298	623	22	5	843	5	TNFSF10	3	172241153	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	49204243	172241153	25781277	24	17455											
SH3TC1	54436	broad.mit.edu	37	chr4	8233729	8233729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggccgtccagcggctgTgccacttctacagcgccgtc	4	8	13	16	5	1	0	0	0	1	0	3	0	2	0	4	2	5	1	4	2	1	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:8233729T>A	ENST00000245105.3	+	13	3044	c.2977T>A	c.(2977-2979)Tgc>Agc	p.C993S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.C917S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	993										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGCGGCTGTGCCACTTCTA	0.642																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2977-2979)Tgc>Agc		Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.							64	67	66					4																	8233729		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8233729T>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2977T>A	4.37:g.8233729T>A	ENSP00000245105:p.Cys993Ser					SH3TC1_uc003gkw.4_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	p.C993S	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	3078	+			993					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2977T>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475529	0.63737	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.77358	-1.09;-1.08	4.89	4.89	0.63831	Tetratricopeptide-like helical (1);	0.060167	0.64402	D	0.000002	T	0.80449	0.4625	L	0.52126	1.63	0.45150	D	0.998167	P	0.49862	0.929	P	0.53549	0.729	T	0.79759	-0.1668	10	0.37606	T	0.19	-8.8498	14.5583	0.68118	0.0:0.0:0.0:1.0	.	993	Q8TE82	S3TC1_HUMAN	S	731;993;917;822	ENSP00000245105:C993S;ENSP00000441045:C917S	ENSP00000245105:C993S	C	+	1	0	SH3TC1	8284629	1.000000	0.71417	0.993000	0.49108	0.496000	0.33645	2.872000	0.48467	1.853000	0.53794	0.374000	0.22700	TGC		0.642	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		A	8233729	T	A	8233729	3	1	246	1	0	0	0	0	1	0	0	0	14261	1696	59	5	3023	5	SH3TC1	4	8233729	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08		8233729	182920547	25	17456											
CPEB2	132864	broad.mit.edu	37	chr4	15060838	15060838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgtccttggaatttaagtGatagtgattttgtaatggat	11	17	10	3	1	0	2	0	2	0	0	1	4	1	4	1	2	1	1	1	2	5	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:15060838G>A	ENST00000507071.1	+	9	1360	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	CPEB2_ENST00000541112.1_Missense_Mutation_p.D862N|CPEB2_ENST00000345451.3_Missense_Mutation_p.D395N|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.D843N|CPEB2_ENST00000382395.3_Missense_Mutation_p.D403N|CPEB2_ENST00000382401.3_Missense_Mutation_p.D398N|CPEB2_ENST00000259997.5_Missense_Mutation_p.D433N|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.D870N			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	425					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.D425H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAATTTAAGTGATAGTGATTT	0.373																																						uc003gnk.2																			1	Substitution - Missense(1)	p.D425H(1)	lung(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2608-2610)Gat>Aat		Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.							110	112	111					4																	15060838		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060838G>A	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1273G>A	4.37:g.15060838G>A	ENSP00000424084:p.Asp425Asn					CPEB2_uc003gnl.2_Missense_Mutation_p.D843N|CPEB2_uc003gnm.2_Missense_Mutation_p.D840N|CPEB2_uc003gni.2_Missense_Mutation_p.D862N|CPEB2_uc003gnn.2_Missense_Mutation_p.D835N|CPEB2_uc003gnj.2_Missense_Mutation_p.D832N	p.D870N	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN			9	2608	+			425					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.2608G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.374778	0.95923	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;1.0;0.997;0.998;1.0;0.986	D;D;D;D;D;D	0.97110	0.983;0.999;0.999;1.0;0.999;0.982	T	0.42120	-0.9470	10	0.87932	D	0	-19.1322	20.0118	0.97458	0.0:0.0:1.0:0.0	.	398;403;843;870;395;425	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	N	870;862;843;425;395;403;398;433;412;78	ENSP00000443985:D870N;ENSP00000437884:D862N;ENSP00000414270:D843N;ENSP00000424084:D425N;ENSP00000334058:D395N;ENSP00000371832:D403N;ENSP00000371838:D398N;ENSP00000259997:D433N;ENSP00000423890:D78N	ENSP00000259997:D433N	D	+	1	0	CPEB2	14669936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.733000	0.93635	0.591000	0.81541	GAT		0.373	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		A	15060838	G	A	15060838	3	1	246	1	0	0	0	0	1	0	0	0	3801	1290	45	3	2655	3	CPEB2	4	15060838	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	6827109	15060838	176093438	26	17457											
GABRA4	2557	broad.mit.edu	37	chr4	46979123	46979123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaccatccatgggaaaatCcaccaatctcatgggacact	14	8	7	12	0	1	1	1	1	1	0	4	3	3	3	4	2	0	0	4	2	3	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:46979123C>T	ENST00000264318.3	-	5	1514	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	178					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGGAAAATCCACCAATCTC	0.333																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.3																			0		p.V177V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(532-534)Gat>Aat		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						58	56	56					4																	46979123		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979123C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.532G>A	4.37:g.46979123C>T	ENSP00000264318:p.Asp178Asn					GABRA4_uc021xnz.1_Missense_Mutation_p.D159N|GABRA4_uc021xoa.1_Missense_Mutation_p.D159N	p.D178N	NM_000809	NP_000800	P48169	GBRA4_HUMAN			4	1515	-			178					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.532G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	8.859	0.946500	0.18356	.	.	ENSG00000109158	ENST00000264318	T	0.76839	-1.05	5.31	4.37	0.52481	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.100489	0.64402	D	0.000002	T	0.58438	0.2122	N	0.16478	0.41	0.45227	D	0.998235	B	0.06786	0.001	B	0.15484	0.013	T	0.49952	-0.8884	10	0.10636	T	0.68	.	9.267	0.37647	0.0:0.8258:0.0:0.1742	.	178	P48169	GBRA4_HUMAN	N	178	ENSP00000264318:D178N	ENSP00000264318:D178N	D	-	1	0	GABRA4	46673880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.646000	0.37249	1.306000	0.44926	0.650000	0.86243	GAT		0.333	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46979123	C	T	46979123	3	4	246	1	0	0	0	0	1	0	0	0	6163	855	30	3	1152	3	GABRA4	4	46979123	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	31918285	46979123	144175153	27	17458											
SLC10A4	201780	broad.mit.edu	37	chr4	48490671	48490671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagtcagaatgtgcagctCtgtacagccattctaaaact	12	11	9	9	0	3	1	1	0	2	1	3	1	3	1	1	1	5	4	1	1	5	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:48490671C>T	ENST00000273861.4	+	3	1248	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGTGCAGCTCTGTACAGCCA	0.473																																						uc003gyc.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(1027-1029)ctC>ctT		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.							132	127	128					4																	48490671		2203	4300	6503	SO:0001819	synonymous_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490671C>T	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1029C>T	4.37:g.48490671C>T						ZAR1_uc003gyd.3_5'Flank	p.L343L	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN			2	1248	+			343					Q8WUZ2	Silent	SNP	ENST00000273861.4	37	c.1029C>T	CCDS3482.1																																																																																				0.473	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		T	48490671	C	T	48490671	2	4	246	1	0	0	0	0	0	0	0	1	14376	900	32	3		3	SLC10A4	4	48490671	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	1511548	48490671	142663605	28	17459											
DNAH5	1767	broad.mit.edu	37	chr5	13886073	13886073	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaccccatctcttacCtgaactttcatttttgtaat	9	19	2	11	0	3	1	2	1	1	0	4	1	3	1	3	0	3	1	3	0	4	7			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:13886073C>T	ENST00000265104.4	-	18	2847	c.2743G>A	c.(2743-2745)Gca>Aca	p.A915T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	915	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCTCTTACCTGAACTTTCA	0.289									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e18+1		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							128	126	127					5																	13886073		2203	4296	6499	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13886073C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2743+1G>A	5.37:g.13886073C>T							p.A915_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			18	2785	-	Lung NSC(4;0.00476)		915			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2743_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761272	0.31137	.	.	ENSG00000039139	ENST00000265104	T	0.23552	1.9	5.75	4.87	0.63330	.	1.156550	0.06404	N	0.719383	T	0.27349	0.0671	L	0.40543	1.245	0.28340	N	0.921395	B	0.02656	0.0	B	0.04013	0.001	T	0.31668	-0.9935	9	.	.	.	.	15.5683	0.76313	0.0:0.8617:0.1383:0.0	.	915	Q8TE73	DYH5_HUMAN	T	915	ENSP00000265104:A915T	.	A	-	1	0	DNAH5	13939073	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.409000	0.59768	1.432000	0.47375	0.650000	0.86243	GCA		0.289	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Missense_Mutation	T	13886073	C	T	13886073	5	4	246	1	0	0	0	0	0	0	1	0	4604	695	24	3	11379	3	DNAH5	5	13886073	Splice_Site	SNP	C	TCGA-41-3392-01A-01D-1495-08		13886073	167029187	29	17460											
CD14	929	broad.mit.edu	37	chr5	140012230	140012230	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgaggcgggagtacgcTagcacacgcagggcgcctac	8	6	14	13	4	0	1	0	1	0	0	1	2	1	2	2	3	3	4	2	3	3	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140012230T>A	ENST00000302014.6	-	2	968	c.339A>T	c.(337-339)ctA>ctT	p.L113L	CD14_ENST00000401743.2_Silent_p.L113L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	113					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTACGCTAGCACACGCA	0.622																																						uc003lgi.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(337-339)ctA>ctT		Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.							40	38	39					5																	140012230		2199	4298	6497	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012230T>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.339A>T	5.37:g.140012230T>A						CD14_uc003lgj.2_Silent_p.L113L|CD14_uc021yej.1_Silent_p.L113L|CD14_uc021yek.1_Silent_p.L113L|CD14_uc021yel.1_5'UTR	p.L113L	NM_000591	NP_001167576	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	718	-			113					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.339A>T	CCDS4232.1																																																																																				0.622	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		A	140012230	T	A	140012230	2	1	246	1	0	0	0	0	0	0	0	1	2964	1509	53	5		5	CD14	5	140012230	Silent	SNP	T	TCGA-41-3392-01A-01D-1495-08	126126157	140012230	40903030	30	17461											
PCDHA1	56147	broad.mit.edu	37	chr5	140166089	140166089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcgtccaaaacacacAgggaccttctggaggtaaat	12	7	13	9	1	1	0	0	0	1	0	2	2	2	2	2	5	1	1	2	5	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140166089A>G	ENST00000504120.2	+	1	214	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R72G|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R72G	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAACACACAGGGACCTTCT	0.592																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(214-216)Agg>Ggg		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							77	83	81					5																	140166089		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140166089A>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.214A>G	5.37:g.140166089A>G	ENSP00000420840:p.Arg72Gly					PCDHAC2_uc003lha.2_Missense_Mutation_p.R72G|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R72G	p.R72G	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	214	+			87			Cadherin 1.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.214A>G	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.015	-1.562820	0.00903	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.28069	1.63;1.63;1.63	4.31	2.01	0.26516	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.161766	0.28901	N	0.013777	T	0.09774	0.0240	N	0.05619	-0.005	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.11329	0.002;0.006;0.001	T	0.31308	-0.9948	10	0.02654	T	1	.	1.9838	0.03432	0.3879:0.0:0.3572:0.2549	.	72;72;72	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	G	72	ENSP00000420840:R72G;ENSP00000378129:R72G;ENSP00000367373:R72G	ENSP00000367373:R72G	R	+	1	2	PCDHA1	140146273	0.007000	0.16637	0.627000	0.29227	0.359000	0.29487	2.215000	0.42862	0.951000	0.37770	-0.137000	0.14449	AGG		0.592	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		G	140166089	A	G	140166089	3	3	246	1	0	0	0	0	1	0	0	0	11519	179	7	4	216	4	PCDHA1	5	140166089	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	153859	140166089	40749171	31	17462											
PCDHA13	56136	broad.mit.edu	37	chr5	140263838	140263838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccgcgctgacggccaCggcaacggtgctgttgtcgc	5	7	15	14	6	0	2	0	2	0	0	1	2	0	2	2	3	3	4	2	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140263838C>T	ENST00000289272.2	+	1	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T662M|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T662M(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCAACGGTG	0.701																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)	p.T662M(1)	biliary_tract(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1984-1986)aCg>aTg		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							54	54	54					5																	140263838		2202	4298	6500	SO:0001583	missense	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263838C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1985C>T	5.37:g.140263838C>T	ENSP00000289272:p.Thr662Met					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.T662M|PCDHAC2_uc003lid.3_Missense_Mutation_p.T662M	p.T662M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1985	+			673			Cadherin 6.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1985C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740770	0.30865	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.57107	0.42;0.42	3.97	3.97	0.46021	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76870	0.4048	H	0.94542	3.55	0.24954	N	0.991778	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.79108	0.966;0.992;0.903	T	0.67757	-0.5588	9	0.72032	D	0.01	.	7.6151	0.28152	0.0:0.7427:0.167:0.0903	.	662;662;662	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	M	662	ENSP00000386821:T662M;ENSP00000289272:T662M	ENSP00000289272:T662M	T	+	2	0	PCDHA13	140244022	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	6.851000	0.75425	2.025000	0.59659	0.655000	0.94253	ACG		0.701	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263838	C	T	140263838	3	4	246	1	0	0	0	0	1	0	0	0	11523	536	19	1	1987	1	PCDHA13	5	140263838	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	97749	140263838	40651422	32	17463											
ODZ2	57451	broad.mit.edu	37	chr5	167420177	167420177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggctattttgctggcGtatttcataggtaagtcagg	7	16	11	7	1	3	0	2	0	1	0	3	0	3	0	0	4	1	4	0	4	4	8	rs187245740	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:167420177G>A	ENST00000518659.1	+	5	1215	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	TENM2_ENST00000519204.1_Silent_p.A271A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000545108.1_Silent_p.A392A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTTGCTGGCGTATTTCATAG	0.537													G|||	3	0.000599042	0	0	5008	,	,		18729	0.003		0	False		,,,				2504	0					uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(1174-1176)gcG>gcA		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							35	36	36					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	57451							g.chr5:167420177G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>A	5.37:g.167420177G>A						ODZ2_uc021yhi.1_Silent_p.A322A|ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.4_Silent_p.A201A	p.A392A	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	4	1176	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.1176G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167420177	G	A	167420177	2	1	246	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167420177	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	27156339	167420177	13495083	33	17464											
SLIT3	6586	broad.mit.edu	37	chr5	168149967	168149967	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagacatgttactgaaGgtgtaattggtcagcatgct	11	12	13	5	0	1	2	1	2	0	1	1	3	1	2	0	3	3	4	0	3	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:168149967G>T	ENST00000519560.1	-	22	2801	c.2382C>A	c.(2380-2382)acC>acA	p.T794T	SLIT3_ENST00000404867.3_Silent_p.T794T|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Silent_p.T794T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	794					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTACTGAAGGTGTAATTGG	0.478																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2380-2382)acC>acA		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							367	301	323					5																	168149967		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168149967G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2382C>A	5.37:g.168149967G>T						SLIT3_uc003mab.3_Silent_p.T794T	p.T794T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		21	2802	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	794					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2382C>A	CCDS4369.1																																																																																				0.478	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168149967	G	T	168149967	2	4	246	1	0	0	0	0	0	0	0	1	14741	987	35	5		5	SLIT3	5	168149967	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	729790	168149967	12765293	34	17465											
MAS1L	116511	broad.mit.edu	37	chr6	29455303	29455303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtaagaaccccactgccGagcagcaaagatagatcacg	14	5	9	13	2	1	3	1	0	0	3	1	4	1	3	4	0	4	3	4	0	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:29455303G>A	ENST00000377127.3	-	1	435	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	126					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCCCACTGCCGAGCAGCAAAG	0.502																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(376-378)tCg>tTg		Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.							66	63	64					6																	29455303		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455303G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.377C>T	6.37:g.29455303G>A	ENSP00000366331:p.Ser126Leu						p.S126L	NM_052967	NP_443199	P35410	MAS1L_HUMAN			0	377	-			126					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.377C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	0.645	-0.811723	0.02798	.	.	ENSG00000204687	ENST00000377127	T	0.69306	-0.39	2.42	-4.84	0.03151	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12390	0.0301	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12578	-1.0542	9	0.09843	T	0.71	.	0.9546	0.01383	0.3571:0.3219:0.1623:0.1587	.	126	P35410	MAS1L_HUMAN	L	126	ENSP00000366331:S126L	ENSP00000366331:S126L	S	-	2	0	MAS1L	29563282	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.872000	0.01639	-1.863000	0.01150	-1.200000	0.01667	TCG		0.502	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		A	29455303	G	A	29455303	3	1	246	1	0	0	0	0	1	0	0	0	9321	1059	37	2	761	2	MAS1L	6	29455303	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		29455303	141659764	35	17466											
SKIV2L	6499	broad.mit.edu	37	chr6	31937127	31937127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtggcctgaaccagaCggtggaggaatttgtggggg	7	9	19	6	1	0	2	0	1	0	1	0	4	0	4	2	7	1	1	2	7	2	2	rs201764098		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:31937127C>T	ENST00000375394.2	+	27	3583	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.T964M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1157					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGAACCAGACGGTGGAGGAA	0.557																																						uc003nyn.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3469-3471)aCg>aTg		Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.		C	MET/THR	7,4399	12.9+/-30.5	0,7,2196	103	107	106		3470	5.3	0.9	6		106	0,8600		0,0,4300	yes	missense	SKIV2L	NM_006929.4	81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	1157/1247	31937127	7,12999	2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937127C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3470C>T	6.37:g.31937127C>T	ENSP00000364543:p.Thr1157Met					SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	p.T1157M	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			26	3859	+			1157					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3470C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515799	0.64634	0.001589	0.0	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.23754	1.89;1.89	5.29	5.29	0.74685	DSH, C-terminal (1);	0.112412	0.64402	D	0.000013	T	0.27063	0.0663	L	0.58510	1.815	0.58432	D	0.999994	D	0.63046	0.992	P	0.50082	0.63	T	0.01452	-1.1351	10	0.42905	T	0.14	-7.1788	17.7168	0.88340	0.0:1.0:0.0:0.0	.	1157	Q15477	SKIV2_HUMAN	M	1157;999;964	ENSP00000364543:T1157M;ENSP00000442645:T964M	ENSP00000364543:T1157M	T	+	2	0	SKIV2L	32045106	1.000000	0.71417	0.930000	0.37139	0.996000	0.88848	6.765000	0.74965	2.460000	0.83146	0.655000	0.94253	ACG		0.557	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			T	31937127	C	T	31937127	3	4	246	1	0	0	0	0	1	0	0	0	14359	536	19	1	3576	1	SKIV2L	6	31937127	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2481824	31937127	139177940	36	17467											
NOTCH4	4855	broad.mit.edu	37	chr6	32165183	32165183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggaggcggcgggcagCggttggccgggagaatcggg	7	4	21	9	5	1	1	1	0	0	1	2	3	1	2	1	8	1	2	1	8	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:32165183C>T	ENST00000375023.3	-	27	5083	c.4945G>A	c.(4945-4947)Gct>Act	p.A1649T	NOTCH4_ENST00000443903.2_Missense_Mutation_p.A58T|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1649					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGCGGGCAGCGGTTGGCCGG	0.697																																						uc003obb.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(4945-4947)Gct>Act		Homo sapiens notch 4 (NOTCH4), mRNA.							26	32	30					6																	32165183		2200	4296	6496	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32165183C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4945G>A	6.37:g.32165183C>T	ENSP00000364163:p.Ala1649Thr					GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.A58T|NOTCH4_uc003oba.3_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	p.A1649T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			26	5084	-			1649					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4945G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541570	0.65085	.	.	ENSG00000204301	ENST00000375023;ENST00000443903	T;T	0.65732	-0.17;-0.17	4.29	3.41	0.39046	Ankyrin repeat-containing domain (4);	0.170695	0.27917	N	0.017340	T	0.26340	0.0643	N	0.13327	0.33	0.51767	D	0.99993	B;B;B;P	0.35714	0.312;0.312;0.072;0.517	B;B;B;B	0.32583	0.095;0.148;0.026;0.118	T	0.25950	-1.0117	10	0.66056	D	0.02	.	10.1602	0.42847	0.0:0.8997:0.0:0.1003	.	58;58;1649;1648	B4DEL8;B4DFM3;Q99466;B0S882	.;.;NOTC4_HUMAN;.	T	1649;58	ENSP00000364163:A1649T;ENSP00000398123:A58T	ENSP00000364163:A1649T	A	-	1	0	NOTCH4	32273161	1.000000	0.71417	0.935000	0.37517	0.968000	0.65278	4.699000	0.61796	1.010000	0.39314	0.561000	0.74099	GCT		0.697	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32165183	C	T	32165183	3	4	246	1	0	0	0	0	1	0	0	0	10551	768	27	1	1082	1	NOTCH4	6	32165183	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	228056	32165183	138949884	37	17468											
CD164	8763	broad.mit.edu	37	chr6	109690088	109690088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttcgttctttagatttgCagaatttataaagaaagaaa	17	15	6	3	1	1	4	0	0	1	4	2	4	1	4	0	0	1	2	0	0	8	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:109690088C>A	ENST00000310786.4	-	6	625	c.560G>T	c.(559-561)tGc>tTc	p.C187F	CD164_ENST00000512821.1_Intron|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Missense_Mutation_p.C168F|CD164_ENST00000504373.1_Missense_Mutation_p.C153F|CD164_ENST00000368961.5_Missense_Mutation_p.C155F|CD164_ENST00000413644.2_Intron|CD164_ENST00000275080.7_Missense_Mutation_p.C174F	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	187					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TTTAGATTTGCAGAATTTATA	0.383																																						uc003pte.3																			0				breast(1)|lung(2)	3						c.(559-561)tGc>tTc		Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.							67	65	66					6																	109690088		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109690088C>A	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.560G>T	6.37:g.109690088C>A	ENSP00000309376:p.Cys187Phe					CD164_uc003ptd.3_Intron|CD164_uc003ptf.3_Missense_Mutation_p.C168F|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Missense_Mutation_p.C174F	p.C187F	NM_006016	NP_006007	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	5	741	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	187					B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.560G>T	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065234	0.76187	.	.	ENSG00000135535	ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000504373	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.93	5.93	0.95920	.	0.054264	0.85682	D	0.000000	T	0.62563	0.2438	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.988;0.993	T	0.54964	-0.8214	10	0.34782	T	0.22	-4.1041	20.3409	0.98764	0.0:1.0:0.0:0.0	.	174;168;187	Q04900-3;Q04900-4;Q04900	.;.;MUC24_HUMAN	F	155;168;187;174;153	ENSP00000357957:C155F;ENSP00000314177:C168F;ENSP00000309376:C187F;ENSP00000275080:C174F;ENSP00000422999:C153F	ENSP00000275080:C174F	C	-	2	0	CD164	109796781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.154000	0.77437	2.814000	0.96858	0.655000	0.94253	TGC		0.383	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		A	109690088	C	A	109690088	3	1	246	1	0	0	0	0	1	0	0	0	2969	710	25	5	88	5	CD164	6	109690088	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	77524905	109690088	61424979	38	17469											
ROS1	6098	broad.mit.edu	37	chr6	117686282	117686282	+	Frame_Shift_Del	DEL	G	G	-																															cctttccccagtaggtataaGgagtgacagaaagattaaat																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:117686282delG	ENST00000368508.3	-	20	3257	c.3059delC	c.(3058-3060)cctfs	p.P1020fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.P1015fs	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1020	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3058-3060)cctfs		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							91	91	91					6																	117686282		2203	4300	6503	SO:0001589	frameshift_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686282delG	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3059delC	6.37:g.117686282delG	ENSP00000357494:p.Pro1020fs					ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	p.P1020fs	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	19	3258	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1020			Fibronectin type-III 4.		Q15368|Q5TDB5	Frame_Shift_Del	DEL	ENST00000368508.3	37	c.3059delC	CCDS5116.1																																																																																				0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			-	117686282	G	-	117686282	7	5	246	1	0	1	0	1	0	0	0	0	13531	1000	35	0	4080	0	ROS1	6	117686282	Frame_Shift_Del	DEL	G	TCGA-41-3392-01A-01D-1495-08	7996194	117686282	53428785	39	17470											
LFNG	3955	broad.mit.edu	37	chr7	2559902	2559902	+	Frame_Shift_Del	DEL	C	C	-																															cctcgacctgctgctggagaCctggatctcgcgccacaagg																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:2559902delC	ENST00000222725.5	+	1	427	c.407delC	c.(406-408)accfs	p.T136fs	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000359574.3_Frame_Shift_Del_p.T136fs|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402506.1_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	136					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTGGAGACCTGGATCTCG	0.706																																						uc003smf.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(406-408)accfs		Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.							18	23	21					7																	2559902		2045	4148	6193	SO:0001589	frameshift_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559902delC	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.407delC	7.37:g.2559902delC	ENSP00000222725:p.Thr136fs					LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Frame_Shift_Del_p.T136fs	p.T136fs	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	0	424	+		Ovarian(82;0.0112)	136					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Frame_Shift_Del	DEL	ENST00000222725.5	37	c.407delC	CCDS34587.1																																																																																				0.706	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		-	2559902	C	-	2559902	7	5	246	1	0	1	0	1	0	0	0	0	8737	507	18	0	685	0	LFNG	7	2559902	Frame_Shift_Del	DEL	C	TCGA-41-3392-01A-01D-1495-08		2559902	156578761	40	17471											
DYNC1I1	1780	broad.mit.edu	37	chr7	95664970	95664970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaataagtccaagcctgtcGctgttaccggaatggctttc	10	11	9	11	2	0	0	0	0	0	0	3	1	1	1	3	2	2	3	3	2	5	3	rs375862083		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:95664970G>A	ENST00000324972.6	+	13	1514	c.1321G>A	c.(1321-1323)Gct>Act	p.A441T	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A424T|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A424T|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A421T|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.A404T|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A404T|DYNC1I1_ENST00000497626.1_3'UTR	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	441					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAAGCCTGTCGCTGTTACCGG	0.498																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1321-1323)Gct>Act		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							270	213	232					7																	95664970		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95664970G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1321G>A	7.37:g.95664970G>A	ENSP00000320130:p.Ala441Thr					DYNC1I1_uc003uod.4_Missense_Mutation_p.A424T|DYNC1I1_uc003uob.3_Missense_Mutation_p.A404T|DYNC1I1_uc003uoe.4_Missense_Mutation_p.A421T|DYNC1I1_uc010lfl.3_Missense_Mutation_p.A430T	p.A441T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		12	1598	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		441					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1321G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596813	0.66332	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.72118	2.19	0.80722	D	1	D;D;D;P;D	0.64830	0.99;0.994;0.994;0.941;0.969	P;P;P;P;P	0.58331	0.691;0.837;0.837;0.59;0.509	D	0.85285	0.1064	10	0.46703	T	0.11	-1.7926	19.0933	0.93238	0.0:0.0:1.0:0.0	.	424;421;424;441;404	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	T	424;441;404;421;404;424	ENSP00000392337:A424T;ENSP00000320130:A441T;ENSP00000438377:A404T;ENSP00000398118:A421T;ENSP00000352348:A404T;ENSP00000412444:A424T	ENSP00000320130:A441T	A	+	1	0	DYNC1I1	95502906	1.000000	0.71417	0.997000	0.53966	0.094000	0.18550	9.657000	0.98554	2.830000	0.97506	0.585000	0.79938	GCT		0.498	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95664970	G	A	95664970	3	1	246	1	0	0	0	0	1	0	0	0	4842	1087	38	1	1367	1	DYNC1I1	7	95664970	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	93105068	95664970	63473693	41	17472											
RBM28	55131	broad.mit.edu	37	chr7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcatcacgggtcaccGccaagtcaaccttgagctgc	9	7	9	16	2	4	1	4	1	0	0	4	1	4	1	4	1	4	1	4	1	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:127964701G>A	ENST00000223073.2	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	417	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552																																						uc003vmp.2																			0		p.A417A(2)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1249-1251)gCg>gTg		Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.							161	166	164					7																	127964701		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964701G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1250C>T	7.37:g.127964701G>A	ENSP00000223073:p.Ala417Val					RBM28_uc011koj.1_Missense_Mutation_p.A276V|RBM28_uc011kok.1_Missense_Mutation_p.A364V	p.A417V	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			11	1365	-			417			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1250C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490769	0.96339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.104763	0.64402	D	0.000004	D	0.90120	0.6913	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.90475	0.4456	10	0.87932	D	0	-12.3433	16.3795	0.83443	0.0:0.0:1.0:0.0	.	276;417;276	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	V	417;276	ENSP00000223073:A417V;ENSP00000390517:A276V	ENSP00000223073:A417V	A	-	2	0	RBM28	127751937	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.764000	0.85297	2.941000	0.99782	0.655000	0.94253	GCG		0.552	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		A	127964701	G	A	127964701	3	1	246	1	0	0	0	0	1	0	0	0	13128	1087	38	1	1061	1	RBM28	7	127964701	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	32299731	127964701	31173962	42	17473											
AHCYL2	23382	broad.mit.edu	37	chr7	129040182	129040182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagatgacttttggtggtGtatcgatagatgtgtgaatg	11	14	14	2	1	0	5	0	2	0	3	1	6	0	5	0	2	0	1	0	2	4	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:129040182G>A	ENST00000325006.3	+	6	929	c.875G>A	c.(874-876)tGt>tAt	p.C292Y	AHCYL2_ENST00000446544.2_Missense_Mutation_p.C291Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.C190Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.C189Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.C211Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.C189Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	292					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTTGGTGGTGTATCGATAGA	0.463																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(874-876)tGt>tAt		Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.							195	189	191					7																	129040182		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129040182G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.875G>A	7.37:g.129040182G>A	ENSP00000315931:p.Cys292Tyr					AHCYL2_uc003vot.3_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.3_Missense_Mutation_p.C189Y|AHCYL2_uc011kox.2_Missense_Mutation_p.C189Y	p.C292Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			5	938	+			292					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.875G>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.532750|4.532750	0.85812|0.85812	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.997;0.997;0.999;0.997;0.998|.	T|T	0.74639|0.74639	-0.3598|-0.3598	10|5	0.54805|.	T|.	0.06|.	-3.7108|-3.7108	17.128|17.128	0.86719|0.86719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;190;292;189;291|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	Y|I	292;291;211;189;190;189|199	ENSP00000315931:C292Y;ENSP00000413639:C291Y;ENSP00000431787:C211Y;ENSP00000420459:C189Y;ENSP00000405267:C190Y;ENSP00000420801:C189Y|.	ENSP00000315931:C292Y|.	C|V	+|+	2|1	0|0	AHCYL2|AHCYL2	128827418|128827418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.384000|9.384000	0.97219|0.97219	2.446000|2.446000	0.82766|0.82766	0.563000|0.563000	0.77884|0.77884	TGT|GTA		0.463	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			A	129040182	G	A	129040182	3	1	246	1	0	0	0	0	1	0	0	0	411	1377	48	3	1019	3	AHCYL2	7	129040182	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	1075481	129040182	30098481	43	17474											
DPP6	1804	broad.mit.edu	37	chr7	154561187	154561187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatggcacgagactcgcctAcgccgccatcaatgattccc	9	7	10	15	4	1	2	1	1	0	1	3	4	2	3	4	2	1	1	4	2	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:154561187A>G	ENST00000377770.3	+	9	1085	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	DPP6_ENST00000332007.3_Missense_Mutation_p.Y253C|DPP6_ENST00000404039.1_Missense_Mutation_p.Y251C|DPP6_ENST00000427557.1_Missense_Mutation_p.Y208C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	315					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGACTCGCCTACGCCGCCATC	0.527																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.3																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(943-945)tAc>tGc		Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.							76	79	78					7																	154561187		2027	4171	6198	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561187A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.944A>G	7.37:g.154561187A>G	ENSP00000367001:p.Tyr315Cys					DPP6_uc003wli.3_Missense_Mutation_p.Y251C|DPP6_uc003wlm.3_Missense_Mutation_p.Y253C|DPP6_uc011kvq.2_Missense_Mutation_p.Y208C	p.Y315C	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		8	1073	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	315						Missense_Mutation	SNP	ENST00000377770.3	37	c.944A>G		.	.	.	.	.	.	.	.	.	.	A	17.14	3.313347	0.60414	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.28	5.28	0.74379	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;0.998;0.998	T	0.80527	-0.1343	10	0.87932	D	0	-23.7512	15.231	0.73386	1.0:0.0:0.0:0.0	.	208;253;315;251	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	251;315;253;208	ENSP00000385578:Y251C;ENSP00000367001:Y315C;ENSP00000328226:Y253C;ENSP00000397303:Y208C	ENSP00000328226:Y253C	Y	+	2	0	DPP6	154192120	1.000000	0.71417	0.991000	0.47740	0.174000	0.22865	8.953000	0.93041	2.000000	0.58554	0.533000	0.62120	TAC		0.527	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		G	154561187	A	G	154561187	3	3	246	1	0	0	0	0	1	0	0	0	4730	391	14	4	1094	4	DPP6	7	154561187	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	25521005	154561187	4577476	44	17475											
ZFAT	57623	broad.mit.edu	37	chr8	135622736	135622736	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattgcttcgtgtgcagttAaaaccacacttatgatgggt	11	13	10	7	1	0	1	0	1	0	0	1	2	0	1	1	1	3	3	1	1	4	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr8:135622736A>T	ENST00000377838.3	-	4	785	c.611T>A	c.(610-612)tTa>tAa	p.L204*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.L192*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.L192*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.L192*|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.L192*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	204					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGTGCAGTTAAAACCACACT	0.502																																						uc003yup.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(610-612)tTa>tAa		Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.							88	87	87					8																	135622736		1959	4128	6087	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135622736A>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.611T>A	8.37:g.135622736A>T	ENSP00000367069:p.Leu204*					ZFAT_uc003yun.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.L192*|ZFAT_uc010meh.3_Nonsense_Mutation_p.L192*|ZFAT_uc010mej.3_Intron|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yur.3_Nonsense_Mutation_p.L192*	p.L204*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		3	797	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		204					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.611T>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	38	6.708340	0.97780	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1603	14.5371	0.67969	1.0:0.0:0.0:0.0	.	.	.	.	X	192;192;192;204;192;192;192;142	.	ENSP00000326997:L192X	L	-	2	0	ZFAT	135691918	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	6.954000	0.76001	2.021000	0.59480	0.533000	0.62120	TTA		0.502	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135622736	A	T	135622736	4	4	246	1	0	0	0	0	0	1	0	0	17629	372	13	5	3172	5	ZFAT	8	135622736	Nonsense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08		135622736	10741286	45	17476											
MORN5	254956	broad.mit.edu	37	chr9	124936831	124936831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatccccaagggctattacGattgtggagacggcttctat	11	11	10	9	2	1	1	0	0	1	1	2	3	2	1	2	3	1	2	2	3	5	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr9:124936831G>A	ENST00000373764.3	+	4	426	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_ENST00000536616.1_Missense_Mutation_p.D122N|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	122										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463																																						uc011lyn.2																			0		p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(364-366)Gat>Aat		Homo sapiens MORN repeat containing 5 (MORN5), mRNA.							104	100	101					9																	124936831		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124936831G>A	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 113", "chromosome 9 open reading frame 18"	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.364G>A	9.37:g.124936831G>A	ENSP00000362869:p.Asp122Asn					MORN5_uc011lyo.1_Silent_p.T84T|MORN5_uc004blw.2_Missense_Mutation_p.D122N	p.D122N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN			3	426	+			122					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.364G>A	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317032	0.81469	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.51817	0.98;0.88;0.69	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.936	T	0.75485	-0.3301	10	0.51188	T	0.08	-11.3685	17.2786	0.87122	0.0:0.0:1.0:0.0	.	122;122	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	N	122;122;106	ENSP00000362869:D122N;ENSP00000437483:D122N;ENSP00000409949:D106N	ENSP00000362869:D122N	D	+	1	0	MORN5	123976652	1.000000	0.71417	0.615000	0.29064	0.389000	0.30415	8.054000	0.89451	2.672000	0.90937	0.650000	0.86243	GAT		0.463	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		A	124936831	G	A	124936831	3	1	246	1	0	0	0	0	1	0	0	0	9711	1058	37	2	378	2	MORN5	9	124936831	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		124936831	16276600	46	17477											
ADARB2	105	broad.mit.edu	37	chr10	1263025	1263025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttggtgcgcaggtgcccGcggaacttcctgacgaggtg	6	9	15	11	4	1	1	0	1	1	0	2	3	2	2	2	4	3	1	2	4	1	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:1263025G>A	ENST00000381312.1	-	7	1873	c.1548C>T	c.(1546-1548)cgC>cgT	p.R516R	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	516	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCAGGTGCCCGCGGAACTTCC	0.657																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1546-1548)cgC>cgT		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							44	40	41					10																	1263025		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1263025G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1548C>T	10.37:g.1263025G>A							p.R516R	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	6	1874	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	516			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1548C>T	CCDS7058.1																																																																																				0.657	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		A	1263025	G	A	1263025	2	1	246	1	0	0	0	0	0	0	0	1	283	1074	38	1		1	ADARB2	10	1263025	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08		1263025	134271722	47	17478											
HPSE2	60495	broad.mit.edu	37	chr10	100249866	100249866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcccggatcactcggccagGccgtggcttccgctggagcc	4	7	14	16	4	1	0	1	0	0	0	4	2	3	2	5	5	1	2	5	5	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:100249866G>T	ENST00000370552.3	-	10	1467	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T	HPSE2_ENST00000370546.1_Missense_Mutation_p.P470T|HPSE2_ENST00000404542.1_Missense_Mutation_p.P358T|HPSE2_ENST00000370549.1_Missense_Mutation_p.P412T	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	470					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACTCGGCCAGGCCGTGGCTTC	0.562																																						uc001kpn.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1408-1410)Cct>Act		Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.							95	94	95					10																	100249866		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249866G>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1408C>A	10.37:g.100249866G>T	ENSP00000359583:p.Pro470Thr					HPSE2_uc009xwc.2_Missense_Mutation_p.P470T|HPSE2_uc001kpo.2_Missense_Mutation_p.P412T|HPSE2_uc009xwd.2_Missense_Mutation_p.P358T	p.P470T	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1481	-			470					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1408C>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284558	0.59867	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.46063	0.88;0.93;1.46;0.94	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.996	T	0.48007	-0.9072	10	0.31617	T	0.26	-5.7498	19.6332	0.95719	0.0:0.0:1.0:0.0	.	358;470;412;470	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	T	470;412;470;358	ENSP00000359583:P470T;ENSP00000359580:P412T;ENSP00000359577:P470T;ENSP00000384384:P358T	ENSP00000359577:P470T	P	-	1	0	HPSE2	100239856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.359000	0.97115	2.645000	0.89757	0.591000	0.81541	CCT		0.562	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		T	100249866	G	T	100249866	3	4	246	1	0	0	0	0	1	0	0	0	7345	1203	42	5	420	5	HPSE2	10	100249866	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	98986841	100249866	35284881	48	17479											
TPH1	7166	broad.mit.edu	37	chr11	18047154	18047154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacagcctcctctgaagCgccaagagaagccaagccaa	14	5	9	13	1	1	3	0	2	1	1	2	4	2	3	5	0	5	0	5	0	6	1	rs145855109	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:18047154C>T	ENST00000250018.2	-	7	1460	c.898G>A	c.(898-900)Gct>Act	p.A300T	TPH1_ENST00000525406.1_5'Flank|TPH1_ENST00000341556.2_Missense_Mutation_p.A300T|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	300					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCCTCTGAAGCGCCAAGAGAA	0.438													C|||	2	0.000399361	0	0	5008	,	,		16266	0		0	False		,,,				2504	0.002					uc001mnp.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(898-900)Gct>Act		Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	C	THR/ALA	0,4400		0,0,2200	85	87	86		898	5.7	1	11	dbSNP_134	86	6,8580	5.0+/-18.6	0,6,4287	yes	missense	TPH1	NM_004179.2	58	0,6,6487	TT,TC,CC		0.0699,0.0,0.0462	possibly-damaging	300/445	18047154	6,12980	2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18047154C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.898G>A	11.37:g.18047154C>T	ENSP00000250018:p.Ala300Thr					TPH1_uc009yhe.2_Non-coding_Transcript	p.A300T	NM_004179	NP_004170	P17752	TPH1_HUMAN			6	924	-			300					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.898G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904046	0.92035	0.0	6.99E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99688	-6.41;-6.41	5.71	5.71	0.89125	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.92169	3.28	0.80722	D	1	P	0.43477	0.808	B	0.39379	0.298	D	0.99882	1.1115	10	0.66056	D	0.02	-13.2861	19.8342	0.96648	0.0:1.0:0.0:0.0	.	300	P17752	TPH1_HUMAN	T	300	ENSP00000250018:A300T;ENSP00000343550:A300T	ENSP00000250018:A300T	A	-	1	0	TPH1	18003730	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.773000	0.85462	2.692000	0.91855	0.561000	0.74099	GCT		0.438	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		T	18047154	C	T	18047154	3	4	246	1	0	0	0	0	1	0	0	0	16398	768	27	1	452	1	TPH1	11	18047154	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		18047154	116959362	49	17480											
OR5B17	219965	broad.mit.edu	37	chr11	58126152	58126152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtgttgtcatggtggtggTataatgtagggggttacaca	9	13	15	4	1	1	0	1	0	0	0	1	0	1	0	0	5	1	4	0	5	4	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:58126152T>C	ENST00000357377.3	-	1	390	c.391A>G	c.(391-393)Acc>Gcc	p.T131A		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGTGGTGGTATAATGTAGG	0.448																																						uc010rke.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(391-393)Acc>Gcc		Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.							124	113	117					11																	58126152		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126152T>C	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.391A>G	11.37:g.58126152T>C	ENSP00000349945:p.Thr131Ala						p.T131A	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			0	391	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	131					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.391A>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	0.936	-0.711217	0.03230	.	.	ENSG00000197786	ENST00000357377	T	0.00730	5.77	3.6	-2.4	0.06583	GPCR, rhodopsin-like superfamily (1);	0.689313	0.11817	N	0.526644	T	0.00608	0.0020	L	0.28694	0.88	0.09310	N	1	B	0.13594	0.008	B	0.17979	0.02	T	0.46442	-0.9191	10	0.42905	T	0.14	-4.5968	1.1655	0.01814	0.1453:0.2805:0.149:0.4252	.	131	Q8NGF7	OR5BH_HUMAN	A	131	ENSP00000349945:T131A	ENSP00000349945:T131A	T	-	1	0	OR5B17	57882728	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.390000	0.01057	-0.742000	0.04790	0.378000	0.23410	ACC		0.448	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		C	58126152	T	C	58126152	3	2	246	1	0	0	0	0	1	0	0	0	11149	1638	57	4	555	4	OR5B17	11	58126152	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08	40078998	58126152	76880364	50	17481											
CD6	923	broad.mit.edu	37	chr11	60786743	60786743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggtcccccagccctcagCctgactccaccgacaacgat	9	5	8	19	2	1	1	1	1	0	0	3	3	3	1	6	1	3	0	6	1	1	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:60786743C>G	ENST00000313421.7	+	13	2146	c.1960C>G	c.(1960-1962)Cct>Gct	p.P654A	CD6_ENST00000452451.2_Missense_Mutation_p.P578A|CD6_ENST00000346437.4_Missense_Mutation_p.P581A|CD6_ENST00000352009.5_Missense_Mutation_p.P587A|CD6_ENST00000344028.5_Missense_Mutation_p.P622A	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	654					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGCCCTCAGCCTGACTCCAC	0.657																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1960-1962)Cct>Gct		Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.							63	53	56					11																	60786743		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60786743C>G		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1960C>G	11.37:g.60786743C>G	ENSP00000323280:p.Pro654Ala					CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P587A|CD6_uc001nqt.3_Missense_Mutation_p.P578A	p.P654A	NM_006725	NP_006716	P30203	CD6_HUMAN			12	2185	+			654					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1960C>G	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489580	0.26686	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	T;T;T;T;T	0.01406	5.04;5.02;5.08;4.93;4.95	4.34	-6.36	0.01969	.	0.939982	0.08790	N	0.893338	T	0.00724	0.0024	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.47736	-0.9094	10	0.29301	T	0.29	.	1.1514	0.01786	0.2051:0.2454:0.3247:0.2247	.	578;587;654	P30203-5;P30203-4;P30203	.;.;CD6_HUMAN	A	622;581;654;578;587	ENSP00000344108:P622A;ENSP00000345566:P581A;ENSP00000323280:P654A;ENSP00000390676:P578A;ENSP00000340628:P587A	ENSP00000323280:P654A	P	+	1	0	CD6	60543319	0.000000	0.05858	0.000000	0.03702	0.589000	0.36550	-1.519000	0.02243	-1.031000	0.03308	0.561000	0.74099	CCT		0.657	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		G	60786743	C	G	60786743	3	3	246	1	0	0	0	0	1	0	0	0	3028	739	26	5	2010	5	CD6	11	60786743	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2660591	60786743	74219773	51	17482											
CALCOCO1	57658	broad.mit.edu	37	chr12	54117525	54117525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccctggcggttcacatatCggaactggtagagctgagct	8	9	14	10	2	1	2	1	1	0	1	2	3	1	3	1	5	3	4	1	5	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54117525C>T	ENST00000550804.1	-	4	362	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R101Q|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.R101Q|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	101	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTCACATATCGGAACTGGTA	0.602																																						uc001sef.3																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(301-303)cGa>cAa		Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.							50	54	53					12																	54117525		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54117525C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.302G>A	12.37:g.54117525C>T	ENSP00000449960:p.Arg101Gln					CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	p.R101Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			3	446	-			101			N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.302G>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517921	0.85495	.	.	ENSG00000012822	ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688	T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	4.79	4.79	0.61399	.	0.000000	0.40554	N	0.001080	T	0.22666	0.0547	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;P;D	0.63957	0.92;0.87;0.818;0.92	T	0.00759	-1.1578	10	0.30854	T	0.27	-10.8278	17.4946	0.87714	0.0:1.0:0.0:0.0	.	94;101;101;101	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	Q	101;101;101;94;101;101;101;101;101;121;101;101;101;101	ENSP00000262059:R101Q;ENSP00000447647:R101Q;ENSP00000449960:R101Q;ENSP00000450083:R101Q;ENSP00000448621:R101Q;ENSP00000447117:R101Q;ENSP00000449058:R121Q;ENSP00000446820:R101Q;ENSP00000448026:R101Q;ENSP00000450012:R101Q;ENSP00000449796:R101Q	ENSP00000262059:R101Q	R	-	2	0	CALCOCO1	52403792	0.376000	0.25098	0.962000	0.40283	0.996000	0.88848	0.938000	0.28965	2.586000	0.87340	0.655000	0.94253	CGA		0.602	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		T	54117525	C	T	54117525	3	4	246	1	0	0	0	0	1	0	0	0	2577	884	31	2	1821	2	CALCOCO1	12	54117525	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		54117525	79734370	52	17483											
HOXC11	3227	broad.mit.edu	37	chr12	54369092	54369092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctgtcccggatgctgaaCctgacggaccgacaagtgaa	11	6	12	12	3	0	3	0	3	0	0	1	6	1	5	3	2	3	2	3	2	3	0	rs557731250		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54369092C>T	ENST00000546378.1	+	2	926	c.810C>T	c.(808-810)aaC>aaT	p.N270N	HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.P272S			O43248	HXC11_HUMAN	homeobox C11	270					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GGATGCTGAACCTGACGGACC	0.478			T	NUP98	AML																																	uc001sem.3				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(808-810)aaC>aaT		Homo sapiens homeobox C11 (HOXC11), mRNA.							53	60	58					12																	54369092		2203	4300	6503	SO:0001819	synonymous_variant	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369092C>T		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.810C>T	12.37:g.54369092C>T							p.N270N	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	926	+			270					A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	c.810C>T	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460473	0.26248	.	.	ENSG00000123388	ENST00000243082	T	0.27557	1.66	4.68	3.67	0.42095	.	.	.	.	.	T	0.40743	0.1129	.	.	.	0.35089	D	0.76413	.	.	.	.	.	.	T	0.54754	-0.8246	6	0.87932	D	0	.	8.6791	0.34198	0.0:0.8023:0.0:0.1977	.	.	.	.	S	272	ENSP00000243082:P272S	ENSP00000243082:P272S	P	+	1	0	HOXC11	52655359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.268000	0.33062	0.923000	0.37045	0.555000	0.69702	CCT		0.478	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			T	54369092	C	T	54369092	2	4	246	1	0	0	0	0	0	0	0	1	7310	506	18	3		3	HOXC11	12	54369092	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	251567	54369092	79482803	53	17484											
OR6C4	341418	broad.mit.edu	37	chr12	55945591	55945591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacacaagcctcttagAactgatggtcatcctcttgg	10	11	8	12	0	4	3	2	1	2	2	5	3	5	3	2	2	2	0	2	2	3	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:55945591A>G	ENST00000394256.2	+	1	609	c.581A>G	c.(580-582)gAa>gGa	p.E194G	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGCCTCTTAGAACTGATGGTC	0.468																																						uc010spp.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(580-582)gAa>gGa		Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.							165	145	152					12																	55945591		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945591A>G	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.581A>G	12.37:g.55945591A>G	ENSP00000377799:p.Glu194Gly						p.E194G	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			0	581	+			194					A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.581A>G	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	A	8.115	0.779621	0.16120	.	.	ENSG00000179626	ENST00000394256	T	0.00258	8.41	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000175	T	0.00356	0.0011	M	0.82630	2.6	0.09310	N	1	B	0.23540	0.087	B	0.33799	0.17	T	0.24657	-1.0154	10	0.87932	D	0	.	13.8881	0.63721	1.0:0.0:0.0:0.0	.	194	Q8NGE1	OR6C4_HUMAN	G	194	ENSP00000377799:E194G	ENSP00000377799:E194G	E	+	2	0	OR6C4	54231858	0.208000	0.23494	0.046000	0.18839	0.017000	0.09413	2.863000	0.48396	2.208000	0.71279	0.533000	0.62120	GAA		0.468	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			G	55945591	A	G	55945591	3	3	246	1	0	0	0	0	1	0	0	0	11193	246	9	4	583	4	OR6C4	12	55945591	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	1576499	55945591	77906304	54	17485											
B4GALNT1	2583	broad.mit.edu	37	chr12	58020574	58020574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgaagaagagcagccGgtgtttggccatctggctct	7	12	14	8	1	2	3	0	1	2	2	2	3	2	3	2	3	2	4	2	3	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:58020574G>A	ENST00000341156.4	-	11	2139	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R464W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	519					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGAGCAGCCGGTGTTTGGCC	0.597																																						uc001spg.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1555-1557)Cgg>Tgg		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.							181	149	160					12																	58020574		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020574G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1555C>T	12.37:g.58020574G>A	ENSP00000341562:p.Arg519Trp					B4GALNT1_uc010sru.2_Missense_Mutation_p.R464W	p.R519W	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1987	-	Melanoma(17;0.122)		519					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1555C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.024851	0.75390	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.18502	2.21;2.21	4.6	3.64	0.41730	.	0.360330	0.28555	N	0.014930	T	0.20170	0.0485	L	0.38175	1.15	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.52189	0.543;0.692	T	0.00408	-1.1758	10	0.66056	D	0.02	-0.108	10.0523	0.42223	0.0:0.0:0.659:0.341	.	464;519	B4DE26;Q00973	.;B4GN1_HUMAN	W	519;464	ENSP00000341562:R519W;ENSP00000401601:R464W	ENSP00000341562:R519W	R	-	1	2	B4GALNT1	56306841	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	1.185000	0.32065	2.577000	0.86979	0.467000	0.42956	CGG		0.597	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		A	58020574	G	A	58020574	3	1	246	1	0	0	0	0	1	0	0	0	1266	1115	39	2	50	2	B4GALNT1	12	58020574	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	2074983	58020574	75831321	55	17486											
PHLDA1	22822	broad.mit.edu	37	chr12	76424413	76424413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgcggatgcgggtgcGggtgagggtgtgggtgcgag	3	10	24	4	4	0	1	0	1	0	0	0	3	0	2	0	6	4	0	0	6	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:76424413G>A	ENST00000266671.5	-	1	3299	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.P229L|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	370	14 X 2 AA repeats of P-H.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				atgcgggtgcgggtgagggtg	0.652																																						uc001sxu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14						c.(1108-1110)cCg>cTg		Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.							125	95	105					12																	76424413		2200	4299	6499	SO:0001583	missense	22822				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	g.chr12:76424413G>A	Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1109C>T	12.37:g.76424413G>A	ENSP00000266671:p.Pro370Leu					PHLDA1_uc021rax.1_Missense_Mutation_p.P370L	p.P370L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN			0	1144	-		Colorectal(145;0.09)	370			14 X 2 AA repeats of P-H.		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	c.1109C>T	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.357729	0.01245	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.66099	-0.19	4.96	4.06	0.47325	.	0.126196	0.30649	N	0.009171	T	0.49525	0.1562	L	0.43923	1.385	0.09310	N	1	P	0.35700	0.516	B	0.25140	0.058	T	0.51608	-0.8684	10	0.87932	D	0	-15.3629	11.9602	0.53005	0.0:0.0:0.8259:0.1741	.	370	Q8WV24	PHLA1_HUMAN	L	370;188	ENSP00000266671:P370L	ENSP00000266671:P370L	P	-	2	0	PHLDA1	74710680	0.259000	0.24043	0.028000	0.17463	0.021000	0.10359	2.596000	0.46205	1.288000	0.44600	0.561000	0.74099	CCG		0.652	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		A	76424413	G	A	76424413	3	1	246	1	0	0	0	0	1	0	0	0	11848	1116	39	2	100	2	PHLDA1	12	76424413	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	18403839	76424413	57427482	56	17487											
ACACB	32	broad.mit.edu	37	chr12	109665288	109665288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgccgtcctcccaccCaaaccggtatggagtgggac	8	7	11	15	2	0	0	0	0	0	0	2	2	2	2	5	3	3	2	5	3	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:109665288C>A	ENST00000338432.7	+	28	4114	c.3995C>A	c.(3994-3996)cCa>cAa	p.P1332Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P1262Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P1332Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1332					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCCTCCCACCCAAACCGGTAT	0.587																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3994-3996)cCa>cAa		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						52	45	47					12																	109665288		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109665288C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3995C>A	12.37:g.109665288C>A	ENSP00000341044:p.Pro1332Gln					ACACB_uc001toc.3_Missense_Mutation_p.P1332Q|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.3_5'Flank|ACACB_uc010sxm.2_5'Flank	p.P1332Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			27	4114	+			1332					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3995C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821043	0.90873	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.40756	1.02;1.02;1.02	5.38	5.38	0.77491	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68341	-0.5434	10	0.45353	T	0.12	.	19.121	0.93364	0.0:1.0:0.0:0.0	.	1332	O00763	ACACB_HUMAN	Q	1332;1332;1262;563	ENSP00000341044:P1332Q;ENSP00000367079:P1332Q;ENSP00000367085:P1262Q	ENSP00000341044:P1332Q	P	+	2	0	ACACB	108149671	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.788000	0.85771	2.679000	0.91253	0.655000	0.94253	CCA		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109665288	C	A	109665288	3	1	246	1	0	0	0	0	1	0	0	0	107	594	21	5	4101	5	ACACB	12	109665288	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	33240875	109665288	24186607	57	17488											
C12orf51	283450	broad.mit.edu	37	chr12	112620944	112620944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgatttactacagacaCggttagaatctcttctgttg	10	15	7	9	1	3	3	0	1	3	2	4	3	3	3	0	1	2	2	0	1	4	6			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:112620944C>G	ENST00000430131.2	-	61	10785	c.9640G>C	c.(9640-9642)Gtg>Ctg	p.V3214L	HECTD4_ENST00000550722.1_Missense_Mutation_p.V3490L|HECTD4_ENST00000377560.5_Missense_Mutation_p.V3464L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3214					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTACAGACACGGTTAGAATC	0.353																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(10504-10506)Gtg>Ctg		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							172	166	168					12																	112620944		1832	4098	5930	SO:0001583	missense	283450							g.chr12:112620944C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9640G>C	12.37:g.112620944C>G	ENSP00000404379:p.Val3214Leu						p.V3502L	NM_001109662	NP_001103132					61	10900	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.10504G>C		.	.	.	.	.	.	.	.	.	.	C	17.09	3.299364	0.60195	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53206	0.63;0.64;0.63	5.85	5.85	0.93711	.	.	.	.	.	T	0.36799	0.0980	N	0.14661	0.345	0.54753	D	0.999984	B	0.31040	0.305	B	0.28991	0.097	T	0.30679	-0.9970	9	0.87932	D	0	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	3214	Q9Y4D8	K0614_HUMAN	L	3464;3214;3490	ENSP00000366783:V3464L;ENSP00000404379:V3214L;ENSP00000449784:V3490L	ENSP00000366783:V3464L	V	-	1	0	C12orf51	111105327	1.000000	0.71417	0.180000	0.23079	0.375000	0.29983	7.153000	0.77428	2.767000	0.95098	0.655000	0.94253	GTG		0.353	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		G	112620944	C	G	112620944	3	3	246	1	0	0	0	0	1	0	0	0	1696	536	19	5	2410	5	C12orf51	12	112620944	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2955656	112620944	21230951	58	17489											
CLYBL	171425	broad.mit.edu	37	chr13	100425263	100425263	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtggctgcaaacaaaaAggtaatggcatgattttagt	14	11	12	4	0	0	1	0	1	0	0	0	2	0	2	0	4	2	4	0	4	5	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr13:100425263A>C	ENST00000376360.1	+	2	275	c.248A>C	c.(247-249)aAg>aCg	p.K83T	CLYBL_ENST00000444838.2_Splice_Site_p.K83T|CLYBL_ENST00000376354.1_Splice_Site_p.K83T|CLYBL_ENST00000339105.4_Splice_Site_p.K83T|CLYBL_ENST00000376355.3_Splice_Site_p.K83T			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	83						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAACAAAAAGGTAATGGCA	0.383																																						uc001vok.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.e2+1		Homo sapiens citrate lyase beta like (CLYBL), mRNA.							78	77	78					13																	100425263		2203	4300	6503	SO:0001630	splice_region_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425263A>C	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.249+1A>C	13.37:g.100425263A>C						CLYBL_uc010tix.2_Splice_Site_p.K83_splice|CLYBL_uc010tiy.2_Splice_Site_p.K83_splice	p.K83_splice	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			2	280	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		83					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.249_splice	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405360	0.83230	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.32	5.32	0.75619	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.096565	0.64402	D	0.000002	D	0.83257	0.5215	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.978;0.987	D	0.88885	0.3342	10	0.87932	D	0	18.1017	15.2719	0.73708	1.0:0.0:0.0:0.0	.	83;83;83	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	T	83	ENSP00000365533:K83T;ENSP00000365538:K83T;ENSP00000404768:K83T;ENSP00000365532:K83T;ENSP00000342991:K83T	ENSP00000342991:K83T	K	+	2	0	CLYBL	99223264	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.473000	0.90410	2.017000	0.59298	0.379000	0.24179	AAG		0.383	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		Missense_Mutation	C	100425263	A	C	100425263	5	2	246	1	0	0	0	0	0	0	1	0	3573	86	3	5	254	5	CLYBL	13	100425263	Splice_Site	SNP	A	TCGA-41-3392-01A-01D-1495-08		100425263	14744615	59	17490											
OR11G2	390439	broad.mit.edu	37	chr14	20665689	20665689	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggaggggcagatcctcctCtttgtgctcttcactgttgt	5	14	12	10	0	3	1	1	0	2	1	5	2	5	2	2	3	1	3	2	3	0	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:20665689C>G	ENST00000357366.3	+	1	195	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATCCTCCTCTTTGTGCTCT	0.552																																						uc010tlb.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(193-195)ctC>ctG		Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.							93	76	81					14																	20665689		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665689C>G		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.195C>G	14.37:g.20665689C>G							p.L65L	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	195	+	all_cancers(95;0.00108)		65					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.195C>G	CCDS32032.1																																																																																				0.552	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			G	20665689	C	G	20665689	2	3	246	1	0	0	0	0	0	0	0	1	10925	900	32	5		5	OR11G2	14	20665689	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08		20665689	86683851	60	17491											
ESR2	2100	broad.mit.edu	37	chr14	64723980	64723980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagcaaagatgagcttgCcggggtggtcaattgagcgc	9	8	16	8	2	1	3	1	2	0	1	1	4	1	4	1	4	4	2	1	4	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:64723980C>T	ENST00000341099.4	-	6	1472	c.1055G>A	c.(1054-1056)gGc>gAc	p.G352D	ESR2_ENST00000555278.1_Missense_Mutation_p.G352D|ESR2_ENST00000557772.1_Missense_Mutation_p.G352D|ESR2_ENST00000554572.1_Missense_Mutation_p.G352D|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000357782.2_Missense_Mutation_p.G352D|ESR2_ENST00000353772.3_Missense_Mutation_p.G352D|ESR2_ENST00000542956.1_Missense_Mutation_p.G352D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.G352D|ESR2_ENST00000553796.1_Missense_Mutation_p.G352D	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	352	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATGAGCTTGCCGGGGTGGTC	0.488																																						uc001xha.1																			0		p.G352C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(1054-1056)gGc>gAc		Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						118	117	117					14																	64723980		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64723980C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1055G>A	14.37:g.64723980C>T	ENSP00000343925:p.Gly352Asp					ESR2_uc001xgy.2_Missense_Mutation_p.G352D|ESR2_uc001xgu.3_Missense_Mutation_p.G352D|ESR2_uc001xgv.3_Missense_Mutation_p.G352D|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Missense_Mutation_p.G352D|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Missense_Mutation_p.G352D|ESR2_uc010aqd.1_Non-coding_Transcript	p.G352D	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	5	1523	-			352			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.1055G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237413	0.95240	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.96	5.96	0.96718	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	L	0.39397	1.21	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.999	D;D;D;D	0.77557	0.983;0.97;0.97;0.99	D	0.97000	0.9728	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	352;352;352;352	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	D	352	ENSP00000452485:G352D;ENSP00000441792:G352D;ENSP00000450699:G352D;ENSP00000335551:G352D;ENSP00000351412:G352D;ENSP00000450488:G352D;ENSP00000452426:G352D;ENSP00000350427:G352D;ENSP00000451582:G352D;ENSP00000343925:G352D	ENSP00000343925:G352D	G	-	2	0	ESR2	63793733	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.747000	0.85070	2.832000	0.97577	0.655000	0.94253	GGC		0.488	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64723980	C	T	64723980	3	4	246	1	0	0	0	0	1	0	0	0	5257	739	26	3	639	3	ESR2	14	64723980	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	44058291	64723980	42625560	61	17492											
PLEKHH1	57475	broad.mit.edu	37	chr14	68035891	68035891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccacatcgggcatgCggctctcagatatgtctccc	6	10	11	14	2	2	1	1	0	2	1	5	1	2	1	2	3	1	2	2	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:68035891C>T	ENST00000329153.5	+	8	1432	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	434						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCGGGCATGCGGCTCTCAGA	0.592																																						uc001xjl.1																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(1300-1302)Cgg>Tgg		Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.							76	79	78					14																	68035891		1950	4151	6101	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68035891C>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1300C>T	14.37:g.68035891C>T	ENSP00000330278:p.Arg434Trp					PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	p.R434W	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	7	1442	+			434					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1300C>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021824	0.54576	.	.	ENSG00000054690	ENST00000329153	T	0.22743	1.94	4.45	3.56	0.40772	.	0.357198	0.27901	N	0.017398	T	0.31918	0.0812	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	P	0.51701	0.677	T	0.09509	-1.0671	10	0.72032	D	0.01	.	10.3032	0.43665	0.4495:0.5504:0.0:0.0	.	434	Q9ULM0	PKHH1_HUMAN	W	434	ENSP00000330278:R434W	ENSP00000330278:R434W	R	+	1	2	PLEKHH1	67105644	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	1.006000	0.29847	1.051000	0.40369	0.561000	0.74099	CGG		0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		T	68035891	C	T	68035891	3	4	246	1	0	0	0	0	1	0	0	0	12076	759	27	1	1326	1	PLEKHH1	14	68035891	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	3311911	68035891	39313649	62	17493											
ADAM20	8748	broad.mit.edu	37	chr14	70989515	70989515	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccattcatggttgcAgtgacagtgttgtttgttgt	5	16	14	6	0	1	1	1	1	0	0	1	1	1	1	1	2	2	5	1	2	0	5	rs113965969		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:70989515A>T	ENST00000256389.3	-	2	2354	c.2110T>A	c.(2110-2112)Tgc>Agc	p.C704S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	654					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATGGTTGCAGTGACAGTGT	0.483																																						uc021rvs.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(2110-2112)Tgc>Agc		Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.							558	422	468					14																	70989515		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989515A>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2110T>A	14.37:g.70989515A>T	ENSP00000256389:p.Cys704Ser					ADAM20_uc001xme.3_Missense_Mutation_p.C704S	p.C704S	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	0	2110	-			654					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2110T>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529489	0.44969	.	.	ENSG00000134007	ENST00000256389	T	0.80304	-1.36	4.56	4.56	0.56223	.	0.000000	0.42420	D	0.000715	D	0.93177	0.7827	H	0.98407	4.225	0.32622	N	0.523214	D	0.89917	1.0	D	0.91635	0.999	D	0.95550	0.8620	10	0.87932	D	0	.	11.7843	0.52032	1.0:0.0:0.0:0.0	.	654	O43506	ADA20_HUMAN	S	704	ENSP00000256389:C704S	ENSP00000256389:C704S	C	-	1	0	ADAM20	70059268	1.000000	0.71417	0.979000	0.43373	0.031000	0.12232	6.891000	0.75639	1.822000	0.53115	0.529000	0.55759	TGC		0.483	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			T	70989515	A	T	70989515	3	4	246	1	0	0	0	0	1	0	0	0	242	188	7	5	224	5	ADAM20	14	70989515	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	2953624	70989515	36360025	63	17494											
ACOT4	122970	broad.mit.edu	37	chr14	74058995	74058995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagttggaggtgctggacgGccacgaccccgagcctggac	7	5	17	12	3	0	0	0	0	0	0	0	6	0	4	4	6	2	2	4	6	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:74058995G>A	ENST00000326303.4	+	1	586	c.332G>A	c.(331-333)gGc>gAc	p.G111D		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	111					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTGCTGGACGGCCACGACCCC	0.682																																						uc001xoo.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(331-333)gGc>gAc		Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.							18	19	19					14																	74058995		2130	4116	6246	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74058995G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.332G>A	14.37:g.74058995G>A	ENSP00000323071:p.Gly111Asp						p.G111D	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	0	586	+			111					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.332G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912101	0.52439	.	.	ENSG00000177465	ENST00000326303	T	0.70869	-0.52	4.93	4.01	0.46588	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.111765	0.64402	D	0.000014	T	0.78007	0.4216	M	0.80508	2.5	0.49389	D	0.99978	D	0.54047	0.964	P	0.55112	0.769	T	0.79647	-0.1716	10	0.59425	D	0.04	-18.5432	8.3634	0.32372	0.0836:0.0:0.7608:0.1556	.	111	Q8N9L9	ACOT4_HUMAN	D	111	ENSP00000323071:G111D	ENSP00000323071:G111D	G	+	2	0	ACOT4	73128748	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	2.045000	0.41250	2.438000	0.82558	0.462000	0.41574	GGC		0.682	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		A	74058995	G	A	74058995	3	1	246	1	0	0	0	0	1	0	0	0	153	1203	42	3	334	3	ACOT4	14	74058995	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	3069480	74058995	33290545	64	17495											
HERC2	8924	broad.mit.edu	37	chr15	28514552	28514553	+	Frame_Shift_Ins	INS	-	-	C																															tagtatttccatcctattaaINScccccaacctatgacctctt																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:28514552_28514553insC	ENST00000261609.7	-	11	1395_1396	c.1287_1288insG	c.(1285-1290)gggttafs	p.L430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCCTATTAACCCCCAACCTA	0.436																																						uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1285-1290)gggttafs		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28514552_28514553insC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1288dupG	15.37:g.28514557_28514557dupC	ENSP00000261609:p.Leu430fs					HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs	p.G429fs	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	10	1393_1394	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	429						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.1287_1288insG	CCDS10021.1																																																																																				0.436	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		C	28514553	-	C	28514552	7	5	246	1	0	1	1	0	0	0	0	0	7058	40	2	0	13548	0	HERC2	15	28514552	Frame_Shift_Ins	INS	-	TCGA-41-3392-01A-01D-1495-08		28514552	74016840	65	17496											
RASGRF1	5923	broad.mit.edu	37	chr15	79296158	79296158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcactctgcttgctgagcGctgaagggtcttcgggcttc	5	12	12	12	2	3	2	1	2	2	0	5	2	3	2	0	2	3	4	0	2	1	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:79296158G>A	ENST00000419573.3	-	16	2757	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A812V|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A44V|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	828					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGCTGAGCGCTGAAGGGTC	0.637																																						uc002beq.3																			0		p.A828A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2482-2484)gCg>gTg		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.							49	44	46					15																	79296158		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296158G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2483C>T	15.37:g.79296158G>A	ENSP00000405963:p.Ala828Val					RASGRF1_uc002bep.3_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.4_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.3_Missense_Mutation_p.A44V	p.A828V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			15	2858	-			830					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2483C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	1.697	-0.502624	0.04261	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.59364	0.27;0.58	4.83	-1.06	0.10002	Ras guanine nucleotide exchange factor, domain (1);	1.596910	0.03249	N	0.181613	T	0.41650	0.1168	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.001	T	0.18366	-1.0339	10	0.28530	T	0.3	.	6.4661	0.21983	0.0816:0.3073:0.5028:0.1083	.	224;828;812;830;812	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	V	828;812;44	ENSP00000405963:A828V;ENSP00000378228:A44V	ENSP00000378224:A812V	A	-	2	0	RASGRF1	77083213	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.006000	0.29847	0.081000	0.16988	-1.247000	0.01520	GCG		0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79296158	G	A	79296158	3	1	246	1	0	0	0	0	1	0	0	0	13072	1087	38	1	1390	1	RASGRF1	15	79296158	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	50781606	79296158	23235234	66	17497											
PHLPP2	23035	broad.mit.edu	37	chr16	71689260	71689260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcgggagctcctcatttCggtctccatcaaacatgcca	8	9	10	14	3	3	0	2	0	1	0	6	1	4	1	3	3	3	1	3	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:71689260C>T	ENST00000568954.1	-	17	2846	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q	RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_Missense_Mutation_p.R33Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R823Q|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R858Q|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R756Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R823Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	823	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCCTCATTTCGGTCTCCATC	0.483																																						uc002fax.3																			0		p.R823R(1)|p.R823*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2467-2469)cGa>cAa		Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							194	180	185					16																	71689260		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71689260C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2468G>A	16.37:g.71689260C>T	ENSP00000457991:p.Arg823Gln					PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.R756Q	p.R823Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			15	2474	-			823			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2468G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678212	0.88542	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.68	4.73	0.59995	Protein phosphatase 2C-like (3);	0.121201	0.52532	D	0.000067	T	0.13030	0.0316	L	0.60845	1.875	0.34942	D	0.750384	D;D	0.57571	0.98;0.98	P;P	0.46940	0.477;0.532	T	0.26780	-1.0093	10	0.28530	T	0.3	-9.5965	5.9135	0.19041	0.0:0.6737:0.1724:0.1538	.	756;823	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Q	33;630;823;823;756	ENSP00000445781:R33Q;ENSP00000353610:R823Q;ENSP00000348611:R823Q;ENSP00000377159:R756Q	ENSP00000299971:R630Q	R	-	2	0	PHLPP2	70246761	0.999000	0.42202	0.882000	0.34594	0.984000	0.73092	3.371000	0.52379	1.394000	0.46624	0.655000	0.94253	CGA		0.483	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		T	71689260	C	T	71689260	3	4	246	1	0	0	0	0	1	0	0	0	11855	884	31	2	1515	2	PHLPP2	16	71689260	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		71689260	18665493	67	17498											
CDH15	1013	broad.mit.edu	37	chr16	89256722	89256722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggccccgctgcaggcGgctgcccttagggctgagcg	6	6	16	13	3	0	2	0	2	0	0	0	2	0	2	3	4	3	4	3	4	2	1	rs548832046		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:89256722G>A	ENST00000289746.2	+	8	1115	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGCTGCAGGCGGCTGCCCTTA	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		15492	0		0	False		,,,				2504	0					uc002fmt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1048-1050)gcG>gcA		Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.							25	26	26					16																	89256722		2195	4297	6492	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256722G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1050G>A	16.37:g.89256722G>A							p.A350A	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	7	1127	+			350			Cadherin 3.			Silent	SNP	ENST00000289746.2	37	c.1050G>A	CCDS10976.1																																																																																				0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		A	89256722	G	A	89256722	2	1	246	1	0	0	0	0	0	0	0	1	3100	1103	39	2		2	CDH15	16	89256722	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	17567462	89256722	1098031	68	17499											
NF1	4763	broad.mit.edu	37	chr17	29550520	29550543	+	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG	-																															gtcatcaaatgcttagtagcAcagaaattctcaagtggttg																								rs587782592		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	ENST00000358273.4	+	16	2163_2186	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	c.(1780-1803)acagaaattctcaagtggttgcggdel	p.TEILKWLR594del	NF1_ENST00000356175.3_In_Frame_Del_p.TEILKWLR594del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	594					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.W599*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGA	0.312			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.0?(8)|p.?(4)|p.W599*(2)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM000024	NF1	M		c.(1780-1803)acagaaattctcaagtggttgcggdel		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	17.37:g.29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	ENSP00000351015:p.Thr594_Arg601del	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.2_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank	p.TEILKWLR594del	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	15	2163_2186	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	594					O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL	ENST00000358273.4	37	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	CCDS42292.1																																																																																				0.312	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29550543	ACAGAAATTCTCAAGTGGTTGCGG	-	29550520	7	5	246	1	0	1	0	1	0	0	0	0	10356	159	6	0	1903	0	NF1	17	29550520	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	TCGA-41-3392-01A-01D-1495-08		29550520	51644690	69	17500											
CARD14	79092	broad.mit.edu	37	chr17	78157817	78157817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggtgctgctgcggcGgtgccagcagctgcaggagc	7	5	19	10	2	0	0	0	0	0	0	0	3	0	2	1	5	8	5	1	5	1	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:78157817G>A	ENST00000573882.1	+	6	991	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	CARD14_ENST00000392434.2_5'Flank|CARD14_ENST00000570421.1_Missense_Mutation_p.R152Q|CARD14_ENST00000344227.2_Missense_Mutation_p.R152Q			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	152					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCTGCGGCGGTGCCAGCAG	0.667																																						uc002jxw.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(454-456)cGg>cAg		Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.							16	18	18					17																	78157817		2194	4293	6487	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78157817G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.455G>A	17.37:g.78157817G>A	ENSP00000458715:p.Arg152Gln					CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_Non-coding_Transcript	p.R152Q	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		3	649	+	all_neural(118;0.0952)		152					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.455G>A	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	5.832	0.337756	0.11013	.	.	ENSG00000141527	ENST00000344227	T	0.35236	1.32	3.71	-7.39	0.01402	.	0.476228	0.22380	N	0.060839	T	0.11922	0.0290	N	0.04203	-0.255	0.38406	D	0.945786	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	10	0.15499	T	0.54	-5.0988	11.1566	0.48491	0.601:0.0:0.399:0.0	.	152	Q9BXL6	CAR14_HUMAN	Q	152	ENSP00000344549:R152Q	ENSP00000344549:R152Q	R	+	2	0	CARD14	75772412	0.004000	0.15560	0.000000	0.03702	0.297000	0.27493	0.579000	0.23788	-1.733000	0.01357	-1.057000	0.02308	CGG		0.667	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78157817	G	A	78157817	3	1	246	1	0	0	0	0	1	0	0	0	2646	1116	39	2	465	2	CARD14	17	78157817	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	48607297	78157817	3037393	70	17501											
BAIAP2	10458	broad.mit.edu	37	chr17	79080620	79080620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcccaccccccgattaCggcgccgcctcccgggcctt	4	6	9	22	5	0	0	0	0	0	0	2	1	2	0	9	2	1	0	9	2	1	2	rs375290881		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:79080620C>T	ENST00000321300.6	+	12	1506	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	BAIAP2_ENST00000575245.1_Silent_p.Y504Y|BAIAP2_ENST00000392411.3_Silent_p.Y393Y|BAIAP2_ENST00000416299.2_Silent_p.Y334Y|BAIAP2_ENST00000435091.3_Silent_p.Y471Y|BAIAP2_ENST00000321280.7_Silent_p.Y471Y|BAIAP2_ENST00000575712.1_Silent_p.Y471Y|BAIAP2_ENST00000428708.2_Silent_p.Y471Y	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	471					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCCCGATTACGGCGCCGCCT	0.697																																						uc002jzg.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1411-1413)taC>taT		Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.		C	,,,	0,4400		0,0,2200	48	46	47		1413,1413,1413,1413	-0.2	1	17		47	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,,	471/535,471/521,471/522,471/553	79080620	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79080620C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1413C>T	17.37:g.79080620C>T						BAIAP2_uc002jyz.4_Silent_p.Y471Y|BAIAP2_uc002jza.2_Silent_p.Y471Y|BAIAP2_uc002jzc.2_Silent_p.Y472Y|BAIAP2_uc002jzb.2_Silent_p.Y228Y|BAIAP2_uc010wuh.1_Silent_p.Y393Y|BAIAP2_uc002jzd.2_Silent_p.Y471Y|BAIAP2_uc002jzf.2_Silent_p.Y471Y|BAIAP2_uc002jze.2_Silent_p.Y504Y|BAIAP2_uc002jzh.2_Silent_p.Y472Y|BAIAP2_uc010wui.2_Silent_p.Y334Y	p.Y471Y	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	1521	+	all_neural(118;0.101)		471					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.1413C>T	CCDS11775.1																																																																																				0.697	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			T	79080620	C	T	79080620	2	4	246	1	0	0	0	0	0	0	0	1	1301	547	19	1		1	BAIAP2	17	79080620	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	922803	79080620	2114590	71	17502											
FECH	2235	broad.mit.edu	37	chr18	55230200	55230200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagtatctgtaaatggcaTttaagctgctgcctgaaata	13	14	8	6	0	1	1	0	1	1	0	1	1	1	1	1	1	3	5	1	1	8	7			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:55230200T>C	ENST00000262093.5	-	6	762	c.611A>G	c.(610-612)aAt>aGt	p.N204S	FECH_ENST00000382873.3_Missense_Mutation_p.N210S	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	204					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GTAAATGGCATTTAAGCTGCT	0.408																																						uc002lgq.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(610-612)aAt>aGt		Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							134	100	112					18																	55230200		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55230200T>C	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.611A>G	18.37:g.55230200T>C	ENSP00000262093:p.Asn204Ser					FECH_uc002lgp.4_Missense_Mutation_p.N210S|FECH_uc002lgr.4_Missense_Mutation_p.N62S	p.N204S	NM_000140	NP_000131	P22830	HEMH_HUMAN			5	728	-		Colorectal(73;0.227)	204					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.611A>G	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626394	0.87560	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96967	-4.19;-4.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99257	1.0889	10	0.66056	D	0.02	-22.6191	15.9494	0.79820	0.0:0.0:0.0:1.0	.	204;210	P22830;P22830-2	HEMH_HUMAN;.	S	204;210	ENSP00000262093:N204S;ENSP00000372326:N210S	ENSP00000262093:N204S	N	-	2	0	FECH	53381198	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.147000	0.77382	2.242000	0.73789	0.533000	0.62120	AAT		0.408	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			C	55230200	T	C	55230200	3	2	246	1	0	0	0	0	1	0	0	0	5808	1493	52	4	684	4	FECH	18	55230200	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08		55230200	22847048	72	17503											
ZNF236	7776	broad.mit.edu	37	chr18	74635065	74635065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaaagccatacaaatGtgatgaatgtggaaagagtt	17	9	12	3	0	0	4	0	2	0	2	0	6	0	5	1	2	2	1	1	2	6	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:74635065G>A	ENST00000253159.8	+	21	3788	c.3590G>A	c.(3589-3591)tGt>tAt	p.C1197Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.C1199Y	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1197					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAAATGTGATGAATGT	0.368																																						uc002lmi.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3589-3591)tGt>tAt		Homo sapiens zinc finger protein 236 (ZNF236), mRNA.							111	107	108					18																	74635065		2033	4223	6256	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74635065G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3590G>A	18.37:g.74635065G>A	ENSP00000253159:p.Cys1197Tyr					ZNF236_uc002lmj.3_Non-coding_Transcript	p.C1197Y	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	20	3788	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1197					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3590G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837225	0.91117	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	D;D	0.85088	-1.94;-1.94	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95507	0.8582	10	0.87932	D	0	.	19.0724	0.93145	0.0:0.0:1.0:0.0	.	1197	Q9UL36	ZN236_HUMAN	Y	1197	ENSP00000253159:C1197Y;ENSP00000444524:C1197Y	ENSP00000253159:C1197Y	C	+	2	0	ZNF236	72764053	1.000000	0.71417	0.943000	0.38184	0.978000	0.69477	9.502000	0.97981	2.498000	0.84270	0.650000	0.86243	TGT		0.368	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74635065	G	A	74635065	3	1	246	1	0	0	0	0	1	0	0	0	17786	1377	48	3	3672	3	ZNF236	18	74635065	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	19404865	74635065	3442183	73	17504											
PLIN4	729359	broad.mit.edu	37	chr19	4511216	4511216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcaggacagtcttgctgGtgtccacgccggtctggaca	6	9	14	12	3	3	0	1	0	2	0	4	2	4	2	2	5	1	1	2	5	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:4511216G>T	ENST00000301286.3	-	3	2713	c.2714C>A	c.(2713-2715)aCc>aAc	p.T905N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	905	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTCTTGCTGGTGTCCACGCC	0.577																																						uc002mar.1																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2713-2715)aCc>aAc		Homo sapiens perilipin 4 (PLIN4), mRNA.							102	103	103					19																	4511216		2081	4207	6288	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511216G>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2714C>A	19.37:g.4511216G>T	ENSP00000301286:p.Thr905Asn					PLIN4_uc010dub.1_5'UTR	p.T905N	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			2	2714	-			905			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2714C>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969436	0.74246	.	.	ENSG00000167676	ENST00000301286	T	0.08458	3.09	5.08	5.08	0.68730	.	0.136731	0.32935	N	0.005463	T	0.26810	0.0656	M	0.87038	2.855	0.36300	D	0.856998	D	0.53312	0.959	P	0.53035	0.716	T	0.40421	-0.9564	10	0.56958	D	0.05	-17.6532	15.9434	0.79776	0.0:0.0:1.0:0.0	.	905	Q96Q06	PLIN4_HUMAN	N	905	ENSP00000301286:T905N	ENSP00000301286:T905N	T	-	2	0	PLIN4	4462216	0.015000	0.18098	0.035000	0.18076	0.014000	0.08584	1.376000	0.34306	2.358000	0.79984	0.462000	0.41574	ACC		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511216	G	T	4511216	3	4	246	1	0	0	0	0	1	0	0	0	12092	1261	44	5	1375	5	PLIN4	19	4511216	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		4511216	54617767	74	17505											
CYP4F8	11283	broad.mit.edu	37	chr19	15728930	15728930	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttgtgccaccctgacatCgtccgatctgtcatcaatac	10	11	6	14	2	3	1	2	1	1	0	5	2	4	1	3	0	3	0	3	0	3	2	rs375063511		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:15728930C>T	ENST00000441682.2	+	0	382							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567																																						uc002nbi.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						c.(316-318)atC>atT		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.		C		0,4372		0,0,2186	139	144	143		318	-0.1	0	19		143	1,8597		0,1,4298	no	coding-synonymous	CYP4F8	NM_007253.3		0,1,6484	TT,TC,CC		0.0116,0.0,0.0077		106/521	15728930	1,12969	2186	4299	6485			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728930C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728930C>T						CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.2_Intron	p.I106I	NM_007253	NP_009184	P98187	CP4F8_HUMAN			2	382	+			106						Silent	SNP	ENST00000441682.2	37	c.318C>T																																																																																					0.567	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		T	15728930	C	T	15728930	1	4	246	0	1	0	0	0	0	0	0	0	4191	874	31	2		2	CYP4F8	19	15728930	RNA	SNP	C	TCGA-41-3392-01A-01D-1495-08	11217714	15728930	43400053	75	17506											
KCNA7	3743	broad.mit.edu	37	chr19	49573469	49573469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaacatcccagcctcttCgccctctgtctcccggtgat	5	11	8	17	2	3	2	0	2	3	0	6	2	4	2	4	1	2	1	4	1	1	1	rs541248038		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49573469C>T	ENST00000221444.1	-	2	1577	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	408					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CCAGCCTCTTCGCCCTCTGTC	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		18458	0		0	False		,,,				2504	0				Colon(74;686 1235 3793 23366 48562)	uc002pmg.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1222-1224)Gaa>Aaa		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.							72	68	69					19																	49573469		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573469C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1222G>A	19.37:g.49573469C>T	ENSP00000221444:p.Glu408Lys						p.E408K	NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	1578	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	408					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.1222G>A	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254434	0.59212	.	.	ENSG00000104848	ENST00000221444	D	0.97906	-4.6	4.27	4.27	0.50696	.	0.115675	0.56097	D	0.000024	D	0.95950	0.8681	M	0.81239	2.535	0.38548	D	0.949395	P	0.43287	0.802	B	0.32624	0.149	D	0.96567	0.9420	10	0.72032	D	0.01	.	11.2415	0.48972	0.1834:0.8166:0.0:0.0	.	408	Q96RP8	KCNA7_HUMAN	K	408	ENSP00000221444:E408K	ENSP00000221444:E408K	E	-	1	0	KCNA7	54265281	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	5.766000	0.68843	2.409000	0.81822	0.491000	0.48974	GAA		0.597	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		T	49573469	C	T	49573469	3	4	246	1	0	0	0	0	1	0	0	0	8008	893	31	2	152	2	KCNA7	19	49573469	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	33844539	49573469	9555514	76	17507											
RPL13A	23521	broad.mit.edu	37	chr19	49994303	49994303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttctctaacagaaaaagCggatggtggttcctgctgcc	9	12	10	10	1	2	1	0	0	2	1	4	2	3	2	2	3	4	2	2	3	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49994303C>T	ENST00000391857.4	+	6	425	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	SNORD34_ENST00000365633.1_RNA|SNORD33_ENST00000362761.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	117					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACAGAAAAAGCGGATGGTGGT	0.562																																						uc002pny.3																			0				cervix(1)|endometrium(1)	2						c.(349-351)Cgg>Tgg		Homo sapiens ribosomal protein L13a (RPL13A), mRNA.							51	51	51					19																	49994303		2203	4300	6503	SO:0001583	missense	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49994303C>T	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.349C>T	19.37:g.49994303C>T	ENSP00000375730:p.Arg117Trp					RPL13A_uc002pnz.3_Missense_Mutation_p.R56W|SNORD35A_uc010enb.1_5'Flank	p.R117W	NM_012423	NP_036555	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	371	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	117					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.349C>T	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969284	0.74246	.	.	ENSG00000142541	ENST00000391857	.	.	.	5.61	4.57	0.56435	Ribosomal protein L13 domain (2);	0.075771	0.53938	U	0.000048	T	0.69033	0.3066	M	0.87617	2.895	0.58432	D	0.999998	P;B	0.34587	0.458;0.157	B;B	0.36335	0.222;0.103	T	0.74970	-0.3482	9	0.87932	D	0	.	14.713	0.69247	0.0:0.8541:0.1458:0.0	.	117;117	Q5QTS3;P40429	.;RL13A_HUMAN	W	117	.	ENSP00000375730:R117W	R	+	1	2	RPL13A	54686115	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.353000	0.66034	1.501000	0.48654	0.655000	0.94253	CGG		0.562	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			T	49994303	C	T	49994303	3	4	246	1	0	0	0	0	1	0	0	0	13560	759	27	1	371	1	RPL13A	19	49994303	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	420834	49994303	9134680	77	17508											
PRPF31	26121	broad.mit.edu	37	chr19	54627985	54627985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcgtctacctcagtgctgCcccacaccggctacatctac	7	10	6	18	2	4	0	1	0	3	0	5	0	4	0	4	1	5	2	4	1	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:54627985C>T	ENST00000321030.4	+	8	1154	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Missense_Mutation_p.P269S|PRPF31_ENST00000391755.1_Missense_Mutation_p.P269S|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	269	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCAGTGCTGCCCCACACCGG	0.672																																						uc002qdh.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(805-807)Ccc>Tcc		Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.							88	73	78					19																	54627985		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54627985C>T	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.805C>T	19.37:g.54627985C>T	ENSP00000324122:p.Pro269Ser					PRPF31_uc010yek.1_Missense_Mutation_p.P269S|PRPF31_uc021vbi.1_Missense_Mutation_p.P269S	p.P269S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			7	1201	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		269			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.805C>T	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575967	0.86645	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000391755	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	4.81	4.81	0.61882	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91243	0.7240	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.976;0.985	D	0.92242	0.5801	10	0.52906	T	0.07	-27.6067	17.5088	0.87754	0.0:1.0:0.0:0.0	.	269;269	E7ESA8;Q8WWY3	.;PRP31_HUMAN	S	269	ENSP00000324122:P269S;ENSP00000395894:P269S;ENSP00000405166:P269S;ENSP00000408980:P269S;ENSP00000375635:P269S	ENSP00000263436:P269S	P	+	1	0	PRPF31	59319797	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.210000	0.65214	2.601000	0.87937	0.561000	0.74099	CCC		0.672	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			T	54627985	C	T	54627985	3	4	246	1	0	0	0	0	1	0	0	0	12566	739	26	3	831	3	PRPF31	19	54627985	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	4633682	54627985	4500998	78	17509											
PPP1R12C	54776	broad.mit.edu	37	chr19	55603589	55603589	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggcctcggcgcccttaCctgcgtggcccgctccagct	2	8	11	20	4	0	0	0	0	0	0	2	0	1	0	6	3	3	2	6	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:55603589C>G	ENST00000263433.3	-	19	2176		c.e19+1		PPP1R12C_ENST00000435544.2_Splice_Site|PPP1R12C_ENST00000376393.2_Splice_Site	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGCGCCCTTACCTGCGTGGCC	0.721																																						uc002qix.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.e19+1		Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.							8	9	8					19																	55603589		2157	4239	6396	SO:0001630	splice_region_variant	54776					cytoplasm		g.chr19:55603589C>G	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2160+1G>C	19.37:g.55603589C>G						PPP1R12C_uc010yfs.2_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.3_Splice_Site_p.Q718_splice	p.Q720_splice	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	19	2176	-			720						Splice_Site	SNP	ENST00000263433.3	37	c.2160_splice	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487417	0.63962	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	.	.	.	4.19	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9667	0.19328	0.0:0.7003:0.1939:0.1058	.	.	.	.	.	-1	.	.	.	-	.	.	PPP1R12C	60295401	1.000000	0.71417	0.993000	0.49108	0.844000	0.47949	5.519000	0.67074	1.129000	0.42072	0.478000	0.44815	.		0.721	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	Intron	G	55603589	C	G	55603589	5	3	246	1	0	0	0	0	0	0	1	0	12356	521	18	5	203	5	PPP1R12C	19	55603589	Splice_Site	SNP	C	TCGA-41-3392-01A-01D-1495-08	975604	55603589	3525394	79	17510											
PTPRT	11122	broad.mit.edu	37	chr20	41100999	41100999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggatggtcatgaaggggcGcaggcctcgcagggtgtagt	7	7	18	9	3	1	1	1	1	0	0	2	2	1	2	2	6	0	3	2	6	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:41100999G>A	ENST00000373187.1	-	8	1356	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	PTPRT_ENST00000373193.3_Missense_Mutation_p.R453C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R453C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R453C|PTPRT_ENST00000373198.4_Missense_Mutation_p.R453C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R453C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R453C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in a gastric cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAGGGGCGCAGGCCTCGC	0.607																																						uc002xkg.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1357-1359)Cgc>Tgc		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							58	65	63					20																	41100999		2151	4249	6400	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41100999G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1357C>T	20.37:g.41100999G>A	ENSP00000362283:p.Arg453Cys					PTPRT_uc010ggj.3_Missense_Mutation_p.R453C	p.R453C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1541	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	453		R -> C (in a gastric cancer).	Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1357C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982774	0.74474	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.29	4.32	0.51571	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65010	0.931;0.772	T	0.62996	-0.6735	10	0.36615	T	0.2	.	15.0832	0.72130	0.0:0.0:0.8569:0.143	.	453;453	O14522-1;O14522	.;PTPRT_HUMAN	C	453	ENSP00000362286:R453C;ENSP00000362283:R453C;ENSP00000362289:R453C;ENSP00000348408:R453C;ENSP00000362294:R453C;ENSP00000362280:R453C;ENSP00000362297:R453C	ENSP00000348408:R453C	R	-	1	0	PTPRT	40534413	0.999000	0.42202	0.977000	0.42913	0.955000	0.61496	3.443000	0.52907	1.195000	0.43115	0.462000	0.41574	CGC		0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41100999	G	A	41100999	3	1	246	1	0	0	0	0	1	0	0	0	12812	1087	38	1	3125	1	PTPRT	20	41100999	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		41100999	21924521	80	17511											
SLC13A3	64849	broad.mit.edu	37	chr20	45204315	45204315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagggctctgtctctGtgttgggagctgggcagaga	7	10	16	8	0	3	1	1	0	2	1	4	3	3	2	0	3	2	5	0	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:45204315G>C	ENST00000279027.4	-	10	1247	c.1229C>G	c.(1228-1230)aCa>aGa	p.T410R	SLC13A3_ENST00000290317.5_Missense_Mutation_p.T363R|SLC13A3_ENST00000472148.1_Missense_Mutation_p.T328R|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T360R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T328R|SLC13A3_ENST00000495082.1_Missense_Mutation_p.T363R	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	410					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTCTGTCTCTGTGTTGGGAGC	0.622																																						uc002xsf.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1228-1230)aCa>aGa		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	Succinic acid(DB00139)						78	62	67					20																	45204315		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45204315G>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1229C>G	20.37:g.45204315G>C	ENSP00000279027:p.Thr410Arg					SLC13A3_uc010ghn.2_Missense_Mutation_p.T379R|SLC13A3_uc010zxx.2_Missense_Mutation_p.T312R|SLC13A3_uc010zxw.2_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.2_Missense_Mutation_p.T363R|SLC13A3_uc010gho.2_Missense_Mutation_p.T328R|SLC13A3_uc010zxv.2_Intron	p.T410R	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			9	1269	-		Myeloproliferative disorder(115;0.0122)	410					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1229C>G	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542699	0.45280	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T	0.06449	3.88;4.14;4.14;4.14;3.68;3.88;3.3	5.14	4.2	0.49525	.	0.384707	0.30676	N	0.009108	T	0.09423	0.0232	L	0.33668	1.02	0.80722	D	1	B;P;P;P	0.40619	0.025;0.677;0.677;0.724	B;B;P;P	0.49528	0.082;0.377;0.48;0.614	T	0.38693	-0.9649	10	0.20046	T	0.44	-1.9515	12.5324	0.56122	0.0798:0.0:0.9202:0.0	.	360;328;363;410	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	R	363;328;410;328;360;363;363	ENSP00000290317:T363R;ENSP00000379648:T328R;ENSP00000279027:T410R;ENSP00000420177:T328R;ENSP00000415852:T360R;ENSP00000419621:T363R;ENSP00000417784:T363R	ENSP00000279027:T410R	T	-	2	0	SLC13A3	44637722	0.991000	0.36638	0.901000	0.35422	0.934000	0.57294	1.134000	0.31442	1.172000	0.42781	0.655000	0.94253	ACA		0.622	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			C	45204315	G	C	45204315	3	2	246	1	0	0	0	0	1	0	0	0	14393	1377	48	5	595	5	SLC13A3	20	45204315	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	4103316	45204315	17821205	81	17512											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959481	45959481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgcaacggacgggcaCgcagcaggcctgctggcagg	8	4	17	12	3	0	0	0	0	0	0	0	1	0	1	1	6	4	7	1	6	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr21:45959481C>T	ENST00000400375.1	-	1	597	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	185	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGACGGGCACGCAGCAGGCC	0.627																																						uc002zfh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(553-555)Gtg>Atg		Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.							125	131	129					21																	45959481		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959481C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.553G>A	21.37:g.45959481C>T	ENSP00000383226:p.Val185Met					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V185M	NM_198691	NP_941964	P60331	KR101_HUMAN			0	598	-			185			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.553G>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.308171	0.01342	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01438	4.89	1.91	0.043	0.14220	.	.	.	.	.	T	0.04998	0.0134	M	0.84326	2.69	0.09310	N	1	D	0.65815	0.995	P	0.56788	0.806	T	0.26573	-1.0099	9	0.39692	T	0.17	.	5.9952	0.19489	0.0:0.6946:0.0:0.3054	.	185	P60331	KR101_HUMAN	M	185	ENSP00000383226:V185M	ENSP00000383226:V185M	V	-	1	0	KRTAP10-1	44783909	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-2.725000	0.00808	-0.003000	0.14444	-0.320000	0.08662	GTG		0.627	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			T	45959481	C	T	45959481	3	4	246	1	0	0	0	0	1	0	0	0	8505	536	19	1	299	1	KRTAP10-1	21	45959481	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		45959481	2170414	82	17513											
RIMBP3	85376	broad.mit.edu	37	chr22	20458153	20458153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcgcccggtagtgcGtgccggggcacaggccctgg	4	4	16	17	5	0	0	0	0	0	0	0	0	0	0	5	5	2	2	5	5	1	1	rs370505908		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:20458153G>A	ENST00000426804.1	-	1	3633	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1050	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCGGTAGTGCGTGCCGGGGCA	0.642																																						uc002zsd.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(3148-3150)aCg>aTg		Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.		A	MET/THR	0,4208		0,0,2104	65	81	76		3149	-1.5	0	22		76	1,8479		0,1,4239	no	missense	RIMBP3	NM_015672.1	81	0,1,6343	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	1050/1640	20458153	1,12687	2104	4240	6344	SO:0001583	missense	85376							g.chr22:20458153G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3149C>T	22.37:g.20458153G>A	ENSP00000391564:p.Thr1050Met					RN7SK_uc021wlw.1_5'Flank	p.T1050M	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		0	3634	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.3149C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	1.236	-0.622719	0.03636	0.0	1.18E-4	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.61158	0.13	3.56	-1.47	0.08772	Fibronectin, type III (2);	0.871584	0.09979	N	0.731210	T	0.43809	0.1264	M	0.76574	2.34	0.09310	N	0.999996	P	0.49783	0.928	B	0.32465	0.146	T	0.44997	-0.9291	10	0.66056	D	0.02	-1.4804	1.5548	0.02582	0.1518:0.1337:0.4426:0.2719	.	956	Q9UFD9	RIM3A_HUMAN	M	956;1050	ENSP00000391564:T1050M	ENSP00000347318:T956M	T	-	2	0	RIMBP3	18838153	0.791000	0.28800	0.000000	0.03702	0.000000	0.00434	0.997000	0.29731	-0.361000	0.08125	-3.712000	0.00023	ACG		0.642	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		A	20458153	G	A	20458153	3	1	246	1	0	0	0	0	1	0	0	0	13364	1145	40	1	1774	1	RIMBP3	22	20458153	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		20458153	30846413	83	17514											
CABIN1	23523	broad.mit.edu	37	chr22	24439394	24439394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggactccacagatgtcaAcctctggtataagattggac	11	10	10	10	0	2	2	1	0	1	2	3	4	3	4	2	3	1	2	2	3	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:24439394A>G	ENST00000398319.2	+	6	759	c.374A>G	c.(373-375)aAc>aGc	p.N125S	CABIN1_ENST00000405822.2_Missense_Mutation_p.N125S|CABIN1_ENST00000263119.5_Missense_Mutation_p.N125S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGATGTCAACCTCTGGTAT	0.557																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(373-375)aAc>aGc		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							141	117	125					22																	24439394		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24439394A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.374A>G	22.37:g.24439394A>G	ENSP00000381364:p.Asn125Ser					CABIN1_uc021wnc.1_Missense_Mutation_p.N125S|CABIN1_uc002zzj.1_Missense_Mutation_p.N125S|CABIN1_uc002zzl.2_Missense_Mutation_p.N125S|CABIN1_uc010guk.1_Missense_Mutation_p.N80S|CABIN1_uc002zzk.2_Missense_Mutation_p.N80S	p.N125S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			5	501	+			125					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.374A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191243	0.38707	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.73258	-0.73;0.29;0.29;-0.73;0.29	5.34	4.28	0.50868	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.045285	0.85682	N	0.000000	T	0.64182	0.2575	L	0.39566	1.225	0.80722	D	1	B;P;B;B	0.51147	0.001;0.942;0.0;0.0	B;P;B;B	0.47299	0.006;0.543;0.005;0.007	T	0.58640	-0.7601	10	0.21540	T	0.41	.	10.8762	0.46913	0.925:0.0:0.075:0.0	.	80;125;125;125	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	S	80;125;125;80;125;125	ENSP00000394209:N80S;ENSP00000263119:N125S;ENSP00000384694:N125S;ENSP00000412389:N80S;ENSP00000381364:N125S	ENSP00000263119:N125S	N	+	2	0	CABIN1	22769394	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.979000	0.49313	0.961000	0.38030	0.529000	0.55759	AAC		0.557	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		G	24439394	A	G	24439394	3	3	246	1	0	0	0	0	1	0	0	0	2528	43	2	4	392	4	CABIN1	22	24439394	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	3981241	24439394	26865172	84	17515											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51042339	51042340	+	Frame_Shift_Del	DEL	GC	GC	-																															gtcgccagtgcgcccgggttGcgactgcgaagggaaccggc																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:51042339_51042340delGC	ENST00000329492.3	+	5	728_729	c.611_612delGC	c.(610-612)tgcfs	p.C204fs	MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.C204fs|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_Intron|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000399908.2_5'UTR|CHKB_ENST00000463053.1_5'Flank	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	204	JNK-binding domain (JBD).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCCGGGTTGCGACTGCGAAG	0.743																																						uc003bmx.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(610-612)tgcfs		Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51042339_51042340delGC	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.611_612delGC	22.37:g.51042339_51042340delGC	ENSP00000330572:p.Cys204fs					MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.2_5'Flank	p.C204fs	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	728_729	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	204			JNK-binding domain (JBD).		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Frame_Shift_Del	DEL	ENST00000329492.3	37	c.611_612delGC																																																																																					0.743	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		-	51042340	GC	-	51042339	7	5	246	1	0	1	0	1	0	0	0	0	9285	1319	46	0	719	0	MAPK8IP2	22	51042339	Frame_Shift_Del	DEL	GC	TCGA-41-3392-01A-01D-1495-08	26602945	51042339	262227	85	17516											
XKRX	402415	broad.mit.edu	37	chrX	100169504	100169504	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccaatggaaatcagAtaagcaataatgagctgcaa	19	7	9	6	0	1	3	1	2	0	1	1	4	1	4	1	1	4	3	1	1	7	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:100169504A>G	ENST00000372956.2	-	3	1777	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Silent_p.Y404Y			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	391						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGGAAATCAGATAAGCAATAA	0.403																																						uc004egn.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(1171-1173)taT>taC		Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.							182	149	161					X																	100169504		2203	4300	6503	SO:0001819	synonymous_variant	402415					integral to membrane|plasma membrane		g.chrX:100169504A>G	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1173T>C	X.37:g.100169504A>G						XKRX_uc011mre.1_Silent_p.Y187Y	p.Y391Y	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			2	1778	-			391					B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	c.1173T>C	CCDS14476.2																																																																																				0.403	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		G	100169504	A	G	100169504	2	3	246	1	0	0	0	0	0	0	0	1	17436	340	12	4		4	XKRX	23	100169504	Silent	SNP	A	TCGA-41-3392-01A-01D-1495-08		100169504	55101056	86	17517											
SLITRK4	139065	broad.mit.edu	37	chrX	142718880	142718880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcagaatctgcatttgtCgaagaaatcagggctgacaa	14	10	10	7	1	3	3	2	1	1	2	4	4	3	3	0	1	1	2	0	1	4	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:142718880C>T	ENST00000381779.4	-	2	270	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SLITRK4_ENST00000356928.1_Silent_p.S15S|SLITRK4_ENST00000338017.4_Silent_p.S15S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	15						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATTTGTCGAAGAAATCA	0.388																																						uc022cfm.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(43-45)tcG>tcA		Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.							49	46	47					X																	142718880		2203	4299	6502	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718880C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.45G>A	X.37:g.142718880C>T						SLITRK4_uc022cfl.1_Silent_p.S15S|SLITRK4_uc004fbx.3_Silent_p.S15S|SLITRK4_uc004fby.3_Silent_p.S15S	p.S15S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			0	45	-	Acute lymphoblastic leukemia(192;6.56e-05)		15					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.45G>A	CCDS14679.1																																																																																				0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		T	142718880	C	T	142718880	2	4	246	1	0	0	0	0	0	0	0	1	14745	871	31	2		2	SLITRK4	23	142718880	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	42549376	142718880	12551680	87	17518											
MEGF6	1953	broad.mit.edu	37	chr1	3412515	3412515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgccggtcacagggtcGcaggccgccccctgcccaca	6	4	13	18	3	1	0	1	0	0	0	2	0	1	0	5	4	2	1	5	4	0	0	rs544058443		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:3412515G>A	ENST00000356575.4	-	30	4036	c.3810C>T	c.(3808-3810)tgC>tgT	p.C1270C	MEGF6_ENST00000294599.4_Silent_p.C1035C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1270	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCACAGGGTCGCAGGCCGCCC	0.706													g|||	1	0.000199681	8e-04	0	5008	,	,		13787	0		0	False		,,,				2504	0				Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3808-3810)tgC>tgT		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							9	11	10					1																	3412515		1872	4083	5955	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3412515G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3810C>T	1.37:g.3412515G>A						MEGF6_uc001akk.3_Silent_p.C1035C	p.C1270C	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	29	4037	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1270			EGF-like 23.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3810C>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	g	8.096	0.775639	0.16051	.	.	ENSG00000162591	ENST00000491842	.	.	.	4.49	-8.98	0.00754	.	.	.	.	.	T	0.63165	0.2488	.	.	.	0.47153	D	0.99933	.	.	.	.	.	.	T	0.72010	-0.4419	4	.	.	.	-13.2651	17.5271	0.87803	0.4381:0.0:0.5619:0.0	.	.	.	.	V	44	.	.	A	-	2	0	MEGF6	3402375	0.000000	0.05858	0.264000	0.24511	0.064000	0.16182	-1.464000	0.02359	-2.187000	0.00759	-2.041000	0.00417	GCG		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		A	3412515	G	A	3412515	2	1	247	1	0	0	0	0	0	0	0	1	9462	1079	38	1		1	MEGF6	1	3412515	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		3412515	245838106	1	17519											
KIAA0467	23334	broad.mit.edu	37	chr1	43909459	43909459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcggcccccctcaccCgcccgcaggtgagcccgtcc	4	4	10	23	4	1	1	1	1	0	0	2	1	2	1	8	2	2	1	8	2	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:43909459C>T	ENST00000562955.1	+	61	8646	c.8646C>T	c.(8644-8646)ccC>ccT	p.P2882P	SZT2_ENST00000372442.1_Silent_p.P2040P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2939					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCCCTCACCCGCCCGCAGGT	0.572																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6118-6120)ccC>ccT		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							101	103	102					1																	43909459		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43909459C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8646C>T	1.37:g.43909459C>T						SZT2_uc001cjl.2_5'Flank	p.P2040P	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			60	8730	+			2939					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6120C>T	CCDS30694.2																																																																																				0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43909459	C	T	43909459	2	4	247	1	0	0	0	0	0	0	0	1	8178	639	23	2		2	KIAA0467	1	43909459	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	40496944	43909459	205341162	2	17520											
BARHL2	343472	broad.mit.edu	37	chr1	91182336	91182336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaattaaaaaagaagaCgtggaagtcctgggggccga	14	8	12	7	2	0	2	0	0	0	2	2	4	2	3	3	3	0	0	3	3	6	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:91182336C>T	ENST00000370445.4	-	1	458	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	139					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AAAAAGAAGACGTGGAAGTCC	0.657																																					GBM(199;3561 4100 22440)	uc001dns.3																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(415-417)acG>acA		Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.							21	21	21					1																	91182336		2180	4274	6454	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182336C>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.417G>A	1.37:g.91182336C>T							p.T139T	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	0	459	-		all_lung(203;0.0263)|Lung SC(238;0.128)	139					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.417G>A	CCDS730.1																																																																																				0.657	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			T	91182336	C	T	91182336	2	4	247	1	0	0	0	0	0	0	0	1	1314	523	19	1		1	BARHL2	1	91182336	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	47272877	91182336	158068285	3	17521											
SLC6A17	388662	broad.mit.edu	37	chr1	110735165	110735165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtaccttaacaccaacGtcctgagccgggacctcatc	10	8	9	14	2	1	1	1	1	0	0	3	2	2	2	5	2	4	1	5	2	4	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:110735165G>A	ENST00000331565.4	+	8	1629	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	382					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TAACACCAACGTCCTGAGCCG	0.537																																						uc009wfq.3																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1144-1146)Gtc>Atc		Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.							158	130	139					1																	110735165		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110735165G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1144G>A	1.37:g.110735165G>A	ENSP00000330199:p.Val382Ile					SLC6A17_uc001dze.1_5'UTR	p.V382I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	7	1605	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	382					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1144G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485718	0.44147	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.73363	-0.74	5.3	4.39	0.52855	.	0.125717	0.52532	D	0.000068	T	0.50531	0.1621	L	0.36672	1.1	0.41125	D	0.985849	B	0.18461	0.028	B	0.16289	0.015	T	0.51028	-0.8757	10	0.36615	T	0.2	.	14.2122	0.65771	0.0725:0.0:0.9275:0.0	.	382	Q9H1V8	S6A17_HUMAN	I	382	ENSP00000330199:V382I	ENSP00000330199:V382I	V	+	1	0	SLC6A17	110536688	1.000000	0.71417	0.912000	0.35992	0.790000	0.44656	6.463000	0.73530	1.248000	0.43934	-0.128000	0.14901	GTC		0.537	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110735165	G	A	110735165	3	1	247	1	0	0	0	0	1	0	0	0	14680	1145	40	1	1170	1	SLC6A17	1	110735165	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	19552829	110735165	138515456	4	17522											
RFX5	5993	broad.mit.edu	37	chr1	151315095	151315095	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttccccacttccacctGacttttttcgagggcgcccc	4	13	6	18	2	0	1	0	1	0	0	4	2	3	1	7	1	0	0	7	1	0	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:151315095G>C	ENST00000290524.4	-	11	1596	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	RFX5_ENST00000452513.2_Nonsense_Mutation_p.S433*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S473*|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S473*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	473					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTCCACCTGACTTTTTTCG	0.547																																						uc001exv.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1417-1419)tCa>tGa		Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.							225	249	241					1																	151315095		2203	4300	6503	SO:0001587	stop_gained	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315095G>C		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1418C>G	1.37:g.151315095G>C	ENSP00000290524:p.Ser473*					RFX5_uc001exw.1_Nonsense_Mutation_p.S473*|RFX5_uc010pcx.1_Nonsense_Mutation_p.S433*	p.S473*	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		10	1632	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		473					B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	37	c.1418C>G	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	37	6.376935	0.97515	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	.	.	.	5.42	3.56	0.40772	.	0.407395	0.22132	N	0.064162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-1.247	8.4841	0.33061	0.1746:0.0:0.8254:0.0	.	.	.	.	X	473;473;473;433;473	.	ENSP00000290524:S473X	S	-	2	0	RFX5	149581719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.171000	0.31896	0.863000	0.35553	0.491000	0.48974	TCA		0.547	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		C	151315095	G	C	151315095	4	2	247	1	0	0	0	0	0	1	0	0	13266	1294	45	5	436	5	RFX5	1	151315095	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	40579930	151315095	97935526	5	17523											
IL20	50604	broad.mit.edu	37	chr1	207039922	207039922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaccattatactctcCggaagatcagcagcctcgcc	9	8	7	17	2	2	2	1	1	1	1	4	3	2	3	6	1	3	1	6	1	3	2	rs373331152		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:207039922C>T	ENST00000367098.1	+	4	682	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	IL20_ENST00000391930.2_Missense_Mutation_p.R107W|IL20_ENST00000367096.3_Missense_Mutation_p.R107W			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTATACTCTCCGGAAGATCAG	0.512																																						uc001her.3																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9						c.(319-321)Cgg>Tgg		Homo sapiens interleukin 20 (IL20), mRNA.		C	TRP/ARG	0,4406		0,0,2203	170	177	174		319	1.9	0.9	1		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL20	NM_018724.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/177	207039922	1,13005	2203	4300	6503	SO:0001583	missense	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207039922C>T	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.319C>T	1.37:g.207039922C>T	ENSP00000356065:p.Arg107Trp					IL20_uc009xby.3_Missense_Mutation_p.R107W	p.R107W	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	2	363	+	Breast(84;0.201)		107		R -> Q (in dbSNP:rs35856950).			Q14CE5	Missense_Mutation	SNP	ENST00000367098.1	37	c.319C>T	CCDS1470.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843288	0.51057	0.0	1.16E-4	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.63580	-0.05;-0.05;2.12	5.06	1.87	0.25490	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.123699	0.52532	D	0.000072	T	0.78233	0.4251	M	0.85041	2.73	0.40542	D	0.981036	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	T	0.80388	-0.1403	10	0.87932	D	0	-4.1553	10.7053	0.45952	0.5004:0.4996:0.0:0.0	.	107;107	Q2THG6;Q9NYY1	.;IL20_HUMAN	W	107	ENSP00000356065:R107W;ENSP00000356063:R107W;ENSP00000375796:R107W	ENSP00000356063:R107W	R	+	1	2	IL20	205106545	0.129000	0.22400	0.905000	0.35620	0.526000	0.34562	0.309000	0.19332	0.603000	0.29913	-0.181000	0.13052	CGG		0.512	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724		T	207039922	C	T	207039922	3	4	247	1	0	0	0	0	1	0	0	0	7667	643	23	2	329	2	IL20	1	207039922	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	55724827	207039922	42210699	6	17524											
OBSCN	84033	broad.mit.edu	37	chr1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctgctcatccccatttgCcggcgagagtgaccgtgcca	7	8	11	15	3	1	2	1	1	0	1	2	4	2	2	6	1	3	1	6	1	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:228557666C>T	ENST00000422127.1	+	91	20035	c.19991C>T	c.(19990-19992)gCc>gTc	p.A6664V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A7621V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19990-19992)gCc>gTc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							70	72	71					1																	228557666		2037	4186	6223	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557666C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19991C>T	1.37:g.228557666C>T	ENSP00000409493:p.Ala6664Val					OBSCN_uc001hsr.1_Missense_Mutation_p.A1293V	p.A6664V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			90	20035	+		Prostate(94;0.0405)	6664			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.19991C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841748	0.51057	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66099	-0.19;-0.19	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57858	0.2082	L	0.33137	0.985	0.80722	D	1	P	0.48089	0.905	P	0.45794	0.493	T	0.63594	-0.6602	9	0.62326	D	0.03	.	16.174	0.81840	0.0:1.0:0.0:0.0	.	6664	Q5VST9	OBSCN_HUMAN	V	6664;4298	ENSP00000409493:A6664V;ENSP00000355668:A4298V	ENSP00000355668:A4298V	A	+	2	0	OBSCN	226624289	0.988000	0.35896	0.804000	0.32291	0.141000	0.21300	2.536000	0.45693	2.495000	0.84180	0.455000	0.32223	GCC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228557666	C	T	228557666	3	4	247	1	0	0	0	0	1	0	0	0	10812	739	26	3	21559	3	OBSCN	1	228557666	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	21517744	228557666	20692955	7	17525											
ZP4	57829	broad.mit.edu	37	chr1	238050155	238050155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcattttcatatactgctCggtctccagtgatctacagg	8	15	8	10	1	4	1	2	1	2	0	6	1	4	1	1	2	3	2	1	2	3	6	rs148891266	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:238050155C>T	ENST00000366570.4	-	6	913	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	252	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATACTGCTCGGTCTCCAGT	0.473													C|||	5	0.000998403	0.003	0	5008	,	,		21782	0		0	False		,,,				2504	0.001				NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(754-756)cGa>cAa		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.		C	GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	166	152	157		755	1	0	1	dbSNP_134	157	0,8600		0,0,4300	yes	missense	ZP4	NM_021186.3	43	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	252/541	238050155	7,12999	2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050155C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.755G>A	1.37:g.238050155C>T	ENSP00000355529:p.Arg252Gln					LOC100130331_uc010pyc.2_Intron	p.R252Q	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1042	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	252			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.755G>A	CCDS1615.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	0.006	-2.079504	0.00375	0.001589	0.0	ENSG00000116996	ENST00000366570	D	0.82619	-1.63	4.96	1.03	0.20045	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.744665	0.12890	N	0.430705	T	0.47619	0.1455	N	0.00473	-1.45	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.48387	-0.9040	10	0.02654	T	1	-2.6382	7.6385	0.28280	0.0:0.3681:0.0:0.6319	.	252	Q12836	ZP4_HUMAN	Q	252	ENSP00000355529:R252Q	ENSP00000355529:R252Q	R	-	2	0	ZP4	236116778	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	-0.293000	0.08320	-0.046000	0.13446	-0.290000	0.09829	CGA		0.473	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			T	238050155	C	T	238050155	3	4	247	1	0	0	0	0	1	0	0	0	18215	884	31	2	895	2	ZP4	1	238050155	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	9492489	238050155	11200466	8	17526											
KCNH7	90134	broad.mit.edu	37	chr2	163253351	163253351	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctctaacaagtcttctcGctgaatcttatgcaagtcac	12	12	5	12	1	5	1	1	1	4	0	6	1	5	1	1	0	3	2	1	0	6	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:163253351G>A	ENST00000332142.5	-	11	2611	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	838					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGTCTTCTCGCTGAATCTTA	0.383																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.2																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2512-2514)Cga>Tga		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	Ibutilide(DB00308)						89	88	88					2																	163253351		2203	4299	6502	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163253351G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2512C>T	2.37:g.163253351G>A	ENSP00000331727:p.Arg838*						p.R838*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			10	2741	-			838					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.2512C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	38	7.230836	0.98150	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.67	2.64	0.31445	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1544	0.72730	0.0:0.0:0.4081:0.5919	.	.	.	.	X	838	.	ENSP00000331727:R838X	R	-	1	2	KCNH7	162961597	0.997000	0.39634	0.999000	0.59377	0.854000	0.48673	0.937000	0.28951	0.219000	0.20840	-0.485000	0.04761	CGA		0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		A	163253351	G	A	163253351	4	1	247	1	0	0	0	0	0	1	0	0	8037	1095	38	1	1102	1	KCNH7	2	163253351	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		163253351	79946022	9	17527											
TTC21B	79809	broad.mit.edu	37	chr2	166799848	166799848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatgctttcaaaacgtGtccctgtaaaatgaataatt	15	12	6	8	1	1	1	1	1	0	0	2	1	2	1	2	0	3	2	2	0	7	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:166799848G>T	ENST00000243344.7	-	5	570	c.433C>A	c.(433-435)Cac>Aac	p.H145N	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	145					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAAAACGTGTCCCTGTAAA	0.313																																						uc002udk.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(433-435)Cac>Aac		Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.							70	63	65					2																	166799848		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166799848G>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.433C>A	2.37:g.166799848G>T	ENSP00000243344:p.His145Asn					TTC21B_uc002udl.3_Missense_Mutation_p.H145N|LOC100506134_uc021vsa.1_Intron|LOC100506134_uc002udm.2_Intron	p.H145N	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			4	566	-			145					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.433C>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117539	0.08881	.	.	ENSG00000123607	ENST00000243344	T	0.62639	0.01	5.32	4.44	0.53790	Tetratricopeptide-like helical (1);	0.803361	0.11618	N	0.546073	T	0.38348	0.1037	N	0.08118	0	0.40237	D	0.977918	B;B	0.15473	0.004;0.013	B;B	0.04013	0.0;0.001	T	0.27191	-1.0081	10	0.35671	T	0.21	1.8333	4.8195	0.13383	0.1865:0.1943:0.6192:0.0	.	145;145	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	N	145	ENSP00000243344:H145N	ENSP00000243344:H145N	H	-	1	0	TTC21B	166508094	1.000000	0.71417	0.326000	0.25389	0.114000	0.19823	4.039000	0.57325	1.231000	0.43661	-0.172000	0.13284	CAC		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		T	166799848	G	T	166799848	3	4	247	1	0	0	0	0	1	0	0	0	16685	1377	48	5	3617	5	TTC21B	2	166799848	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	3546497	166799848	76399525	10	17528											
SDPR	8436	broad.mit.edu	37	chr2	192700730	192700730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcggatgttagcgcGtagctaccctcatagcgtac	7	10	10	14	4	1	0	1	0	0	0	3	1	2	1	3	1	5	4	3	1	5	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:192700730G>A	ENST00000304141.4	-	2	1526	c.1197C>T	c.(1195-1197)taC>taT	p.Y399Y		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ATGTTAGCGCGTAGCTACCCT	0.612																																						uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(1195-1197)taC>taT		Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)						91	84	87					2																	192700730		2203	4300	6503	SO:0001819	synonymous_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700730G>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1197C>T	2.37:g.192700730G>A							p.Y399Y	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	1552	-			399						Silent	SNP	ENST00000304141.4	37	c.1197C>T	CCDS2313.1																																																																																				0.612	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		A	192700730	G	A	192700730	2	1	247	1	0	0	0	0	0	0	0	1	13970	1140	40	1		1	SDPR	2	192700730	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	25900882	192700730	50498643	11	17529											
KIAA1486	57624	broad.mit.edu	37	chr2	226447389	226447389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcccccacccccgtctaCgctgtaccgaacccagtctc	6	7	7	21	4	2	0	0	0	2	0	4	1	2	0	6	0	3	2	6	0	3	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:226447389C>T	ENST00000272907.6	+	4	1669	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	419	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCCCGTCTACGCTGTACCGA	0.662																																						uc002voe.2																			0											c.(1255-1257)aCg>aTg		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							24	30	28					2																	226447389		2031	4164	6195	SO:0001583	missense	57624							g.chr2:226447389C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1256C>T	2.37:g.226447389C>T	ENSP00000272907:p.Thr419Met					NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.T189M	p.T419M	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1431	+			419			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1256C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240162	0.39598	.	.	ENSG00000144460	ENST00000272907	T	0.32272	1.46	5.19	5.19	0.71726	.	0.172100	0.49916	D	0.000123	T	0.47116	0.1428	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.59761	0.863	T	0.44513	-0.9323	10	0.62326	D	0.03	-11.2807	18.7321	0.91739	0.0:1.0:0.0:0.0	.	419	Q9P242	K1486_HUMAN	M	419	ENSP00000272907:T419M	ENSP00000272907:T419M	T	+	2	0	KIAA1486	226155633	0.990000	0.36364	0.311000	0.25182	0.468000	0.32798	2.929000	0.48916	2.415000	0.81967	0.563000	0.77884	ACG		0.662	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		T	226447389	C	T	226447389	3	4	247	1	0	0	0	0	1	0	0	0	8237	536	19	1	1266	1	KIAA1486	2	226447389	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	33746659	226447389	16751984	12	17530											
DNAH12	201625	broad.mit.edu	37	chr3	57488121	57488121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtgtatcaacagccCagtgtaacacgtgttcagga	11	10	9	11	1	3	0	3	0	0	0	3	1	3	1	2	1	3	3	2	1	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:57488121C>A	ENST00000351747.2	-	10	1352	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	DNAH12_ENST00000311202.6_Missense_Mutation_p.W391L|DNAH12_ENST00000389536.4_Missense_Mutation_p.W391L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	391	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATCAACAGCCCAGTGTAACAC	0.393																																						uc003dit.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1171-1173)tGg>tTg		Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.							253	221	232					3																	57488121		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57488121C>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1172G>T	3.37:g.57488121C>A	ENSP00000295937:p.Trp391Leu					DNAH12_uc003diu.2_Missense_Mutation_p.W391L	p.W391L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			9	1353	-			391			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.1172G>T		.	.	.	.	.	.	.	.	.	.	C	14.65	2.597515	0.46318	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20881	2.21;2.04;3.65;3.11	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.35970	0.0950	M	0.74258	2.255	0.80722	D	1	P;P	0.52463	0.675;0.953	B;P	0.50109	0.284;0.631	T	0.07139	-1.0788	10	0.27082	T	0.32	.	17.3645	0.87359	0.0:1.0:0.0:0.0	.	391;391	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	L	391	ENSP00000295937:W391L;ENSP00000418137:W391L;ENSP00000374187:W391L;ENSP00000312554:W391L	ENSP00000312554:W391L	W	-	2	0	DNAH12	57463161	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	4.003000	0.57061	2.597000	0.87782	0.655000	0.94253	TGG		0.393	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		A	57488121	C	A	57488121	3	1	247	1	0	0	0	0	1	0	0	0	4600	595	21	5	8349	5	DNAH12	3	57488121	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		57488121	140534309	13	17531											
SLC9A10	285335	broad.mit.edu	37	chr3	111901019	111901019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtttttatctagccaCggaatatgatatagaacttc	11	17	6	7	1	2	2	0	1	2	1	3	3	2	3	1	1	2	1	1	1	7	9	rs372137369		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:111901019C>T	ENST00000305815.5	-	21	2862	c.2610G>A	c.(2608-2610)ccG>ccA	p.P870P	SLC9C1_ENST00000487372.1_Silent_p.P822P	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	870					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TATCTAGCCACGGAATATGAT	0.259																																						uc003dyu.3																			0											c.(2608-2610)ccG>ccA		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.		C		0,4406		0,0,2203	62	67	66		2610	0.7	1	3		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A10	NM_183061.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		870/1178	111901019	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111901019C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2610G>A	3.37:g.111901019C>T						SLC9C1_uc011bhu.2_Silent_p.P133P|SLC9C1_uc010hqc.3_Silent_p.P822P	p.P870P	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			20	2832	-			870					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.2610G>A	CCDS33817.1																																																																																				0.259	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111901019	C	T	111901019	2	4	247	1	0	0	0	0	0	0	0	1	14710	523	19	1		1	SLC9A10	3	111901019	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	54412898	111901019	86121411	14	17532											
UBA5	79876	broad.mit.edu	37	chr3	132390695	132390695	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcagggcatatacagctTataattcctggagaatctgc	11	13	9	8	0	2	1	1	0	1	1	3	2	3	1	1	2	3	3	1	2	5	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:132390695T>C	ENST00000356232.4	+	7	1726	c.654T>C	c.(652-654)ctT>ctC	p.L218L	UBA5_ENST00000494238.2_Silent_p.L162L|UBA5_ENST00000493720.2_Silent_p.L218L|UBA5_ENST00000264991.4_Silent_p.L162L|UBA5_ENST00000473651.1_Silent_p.L218L	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	218					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATATACAGCTTATAATTCCTG	0.368																																						uc003epa.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(652-654)ctT>ctC		Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.							176	162	167					3																	132390695		2203	4300	6503	SO:0001819	synonymous_variant	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132390695T>C	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.654T>C	3.37:g.132390695T>C						NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Silent_p.L162L|UBA5_uc003epb.4_Silent_p.L162L	p.L218L	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN			6	896	+			218					A6NJL3|D3DNC8|Q96ST1	Silent	SNP	ENST00000356232.4	37	c.654T>C	CCDS3076.1																																																																																				0.368	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		C	132390695	T	C	132390695	2	2	247	1	0	0	0	0	0	0	0	1	16827	1741	61	4		4	UBA5	3	132390695	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	20489676	132390695	65631735	15	17533											
PRR23B	389151	broad.mit.edu	37	chr3	138739151	138739151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacttccagcccggcagacGagtcgtgctgcgctcctgag	6	7	12	16	4	0	2	0	1	0	1	3	3	2	2	4	1	3	3	4	1	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:138739151G>A	ENST00000329447.5	-	1	617	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	118										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGGCAGACGAGTCGTGCTG	0.632																																						uc003esy.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(352-354)tCg>tTg		Homo sapiens proline rich 23B (PRR23B), mRNA.							49	50	50					3																	138739151		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739151G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.353C>T	3.37:g.138739151G>A	ENSP00000328768:p.Ser118Leu						p.S118L	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			0	618	-			118					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.353C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005930	0.07773	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.97	-4.89	0.03103	.	2.599750	0.01665	N	0.025311	T	0.19805	0.0476	N	0.21142	0.635	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.05683	-1.0870	9	0.27082	T	0.32	.	0.8759	0.01223	0.314:0.2917:0.2465:0.1477	.	118	Q6ZRT6	PR23B_HUMAN	L	118	.	ENSP00000328768:S118L	S	-	2	0	PRR23B	140221841	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.369000	0.07533	-1.279000	0.02405	-0.657000	0.03884	TCG		0.632	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		A	138739151	G	A	138739151	3	1	247	1	0	0	0	0	1	0	0	0	12595	1059	37	2	448	2	PRR23B	3	138739151	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6348456	138739151	59283279	16	17534											
B3GALNT1	8706	broad.mit.edu	37	chr3	160803715	160803715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgaatgttcacttttaaTaaattcaaacagatcccgac	16	13	4	8	1	2	2	2	1	0	1	3	3	3	2	1	0	1	1	1	0	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:160803715T>A	ENST00000392781.2	-	8	1575	c.828A>T	c.(826-828)ttA>ttT	p.L276F	B3GALNT1_ENST00000488170.1_Missense_Mutation_p.L276F|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.L276F|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.L276F|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.L276F|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.L276F	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	276					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCACTTTTAATAAATTCAAAC	0.363																																						uc003fdv.3																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(826-828)ttA>ttT		Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.							49	49	49					3																	160803715		2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160803715T>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.828A>T	3.37:g.160803715T>A	ENSP00000376532:p.Leu276Phe					B3GALNT1_uc003fdw.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fea.3_Missense_Mutation_p.L276F|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L276F	p.L276F	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		4	1247	-			276					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.828A>T	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987405	0.53934	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.83	0.382	0.16234	.	0.099619	0.42294	D	0.000723	T	0.72195	0.3430	N	0.24115	0.695	0.30527	N	0.767875	P	0.44946	0.846	B	0.41036	0.346	T	0.70612	-0.4824	10	0.56958	D	0.05	.	7.1944	0.25845	0.0:0.4868:0.145:0.3682	.	276	O75752	B3GL1_HUMAN	F	276	ENSP00000323479:L276F;ENSP00000376530:L276F;ENSP00000376531:L276F;ENSP00000376532:L276F;ENSP00000418226:L276F;ENSP00000420163:L276F	ENSP00000323479:L276F	L	-	3	2	B3GALNT1	162286409	0.013000	0.17824	0.991000	0.47740	0.929000	0.56500	-0.469000	0.06648	0.126000	0.18424	0.459000	0.35465	TTA		0.363	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		A	160803715	T	A	160803715	3	1	247	1	0	0	0	0	1	0	0	0	1245	1403	49	5	171	5	B3GALNT1	3	160803715	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	22064564	160803715	37218715	17	17535											
NCBP2	22916	broad.mit.edu	37	chr3	196664454	196664454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagtctgtgcgaatgattCggtcatccagacgcgtccca	8	9	10	14	4	2	2	1	1	1	1	5	3	4	2	3	1	1	0	3	1	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:196664454C>T	ENST00000321256.5	-	3	419	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	NCBP2_ENST00000452404.2_Missense_Mutation_p.R91Q|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000422610.1_Missense_Mutation_p.R39Q|NCBP2_ENST00000447325.1_Missense_Mutation_p.R39Q|NCBP2_ENST00000427641.2_Missense_Mutation_p.R56Q	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GCGAATGATTCGGTCATCCAG	0.527																																						uc003fxd.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(325-327)cGa>cAa		Homo sapiens nuclear cap binding protein subunit 2, 20kDa (NCBP2), transcript variant 1, mRNA.							122	109	113					3																	196664454		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196664454C>T	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"RNA binding motif (RRM) containing"	7659	protein-coding gene	gene with protein product		605133	"nuclear cap binding protein subunit 2, 20kD"			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.326G>A	3.37:g.196664454C>T	ENSP00000326806:p.Arg109Gln					NCBP2_uc003fxb.1_Missense_Mutation_p.R39Q|NCBP2_uc011btz.1_Missense_Mutation_p.R91Q|NCBP2_uc003fxc.1_Non-coding_Transcript|NCBP2_uc003fxe.1_Missense_Mutation_p.R56Q|NCBP2_uc003fxf.3_3'UTR	p.R109Q	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	2	416	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		109			RRM.		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.326G>A	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	C	36	5.900677	0.97081	.	.	ENSG00000114503	ENST00000447325;ENST00000321256;ENST00000427641;ENST00000452404;ENST00000422610;ENST00000411704	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86556	0.5961	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.999	P;D;P	0.97110	0.669;1.0;0.849	D	0.86450	0.1772	10	0.52906	T	0.07	.	17.7697	0.88487	0.0:1.0:0.0:0.0	.	91;56;109	P52298-2;E9PAR5;P52298	.;.;NCBP2_HUMAN	Q	39;109;56;91;39;39	ENSP00000413518:R39Q;ENSP00000326806:R109Q;ENSP00000397619:R56Q;ENSP00000412785:R91Q;ENSP00000394105:R39Q;ENSP00000389315:R39Q	ENSP00000326806:R109Q	R	-	2	0	NCBP2	198148851	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.518000	0.81795	2.767000	0.95098	0.655000	0.94253	CGA		0.527	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		T	196664454	C	T	196664454	3	4	247	1	0	0	0	0	1	0	0	0	10212	884	31	2	152	2	NCBP2	3	196664454	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	35860739	196664454	1357976	18	17536											
CSN2	1447	broad.mit.edu	37	chr4	70822070	70822070	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaactttgaaatcttcttAgaccttaaaaataaacagat	18	14	3	6	0	2	3	0	1	2	2	2	3	2	3	1	0	2	0	1	0	8	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:70822070A>G	ENST00000353151.3	-	6	690	c.679T>C	c.(679-681)Taa>Caa	p.*227Q		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AAATCTTCTTAGACCTTAAAA	0.269																																						uc003hes.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(679-681)Taa>Caa		Homo sapiens casein beta (CSN2), mRNA.							26	28	27					4																	70822070		2152	4239	6391	SO:0001578	stop_lost	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70822070A>G	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.679T>C	4.37:g.70822070A>G	ENSP00000341030:p.*227Gluext*14					CSN2_uc003het.4_Nonstop_Mutation_p.*226Q	p.*227Q	NM_001891	NP_001882	P05814	CASB_HUMAN			5	692	-			0					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonstop_Mutation	SNP	ENST00000353151.3	37	c.679T>C	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	A	9.352	1.065690	0.20067	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0011	0.41929	1.0:0.0:0.0:0.0	.	.	.	.	Q	227	.	.	X	-	1	0	CSN2	70856659	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.370000	0.52372	2.126000	0.65437	0.533000	0.62120	TAA		0.269	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			G	70822070	A	G	70822070	4	3	247	1	0	0	0	0	0	0	0	0	3948	433	15	4	5	4	CSN2	4	70822070	Nonstop_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08		70822070	120332206	19	17537											
ALB	213	broad.mit.edu	37	chr4	74279142	74279142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacttacttataggcggaCcttgccaagtatatctgtga	11	12	8	10	1	1	1	0	1	1	0	1	2	1	2	3	2	3	1	3	2	7	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74279142C>G	ENST00000503124.1	+	6	606	c.399C>G	c.(397-399)gaC>gaG	p.D133E	ALB_ENST00000509063.1_Missense_Mutation_p.D283E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.D168E|ALB_ENST00000415165.2_Missense_Mutation_p.D91E|ALB_ENST00000295897.4_Missense_Mutation_p.D283E			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATAGGCGGACCTTGCCAAGT	0.393																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(847-849)gaC>gaG		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						77	75	75					4																	74279142		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279142C>G	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.399C>G	4.37:g.74279142C>G	ENSP00000421027:p.Asp133Glu					ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.D91E|ALB_uc011cbf.2_Missense_Mutation_p.D173E	p.D283E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	922	+	Breast(15;0.00102)		283			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.849C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.065|1.065	-0.671702|-0.671702	0.03403|0.03403	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.72394|.	-0.65;-0.65;-0.65;-0.65;-0.65|.	6.16|6.16	-10.6|-10.6	0.00265|0.00265	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.981902|.	0.08366|.	N|.	0.956910|.	T|T	0.10035|0.10035	0.0246|0.0246	N|N	0.04669|0.04669	-0.19|-0.19	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.11329|.	0.006;0.001;0.001;0.001;0.0|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.30078|.	T|.	0.28|.	-10.2723|-10.2723	2.3922|2.3922	0.04381|0.04381	0.3442:0.2074:0.3372:0.1113|0.3442:0.2074:0.3372:0.1113	.|.	168;91;133;283;283|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	E|A	283;91;133;283;168;292|128	ENSP00000295897:D283E;ENSP00000401820:D91E;ENSP00000421027:D133E;ENSP00000422784:D283E;ENSP00000384695:D168E|.	ENSP00000295897:D283E|.	D|P	+|+	3|1	2|0	ALB|ALB	74498006|74498006	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.656000|0.656000	0.38851|0.38851	-2.912000|-2.912000	0.00698|0.00698	-1.980000|-1.980000	0.00990|0.00990	-0.986000|-0.986000	0.02555|0.02555	GAC|CCT		0.393	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		G	74279142	C	G	74279142	3	3	247	1	0	0	0	0	1	0	0	0	486	506	18	5	879	5	ALB	4	74279142	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	3457072	74279142	116875134	20	17538											
AFM	173	broad.mit.edu	37	chr4	74354363	74354363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatatattgcgatactcAgtcaaaaattccccaagatt	15	11	5	10	1	2	2	2	0	0	2	3	3	3	2	3	0	2	0	3	0	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74354363A>G	ENST00000226355.3	+	7	823	c.730A>G	c.(730-732)Agt>Ggt	p.S244G		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	244	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGATACTCAGTCAAAAATT	0.343																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(730-732)Agt>Ggt		Homo sapiens afamin (AFM), mRNA.							91	92	92					4																	74354363		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74354363A>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.730A>G	4.37:g.74354363A>G	ENSP00000226355:p.Ser244Gly						p.S244G	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	761	+	Breast(15;0.00102)		244			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.730A>G	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954723	0.34471	.	.	ENSG00000079557	ENST00000226355	T	0.79749	-1.3	5.36	2.96	0.34315	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.158016	0.56097	N	0.000024	D	0.88987	0.6587	M	0.88450	2.955	0.37721	D	0.924921	D	0.89917	1.0	D	0.87578	0.998	D	0.88221	0.2897	10	0.87932	D	0	.	6.6947	0.23193	0.8133:0.0:0.1867:0.0	.	244	P43652	AFAM_HUMAN	G	244	ENSP00000226355:S244G	ENSP00000226355:S244G	S	+	1	0	AFM	74573227	0.998000	0.40836	0.314000	0.25224	0.199000	0.23934	4.574000	0.60900	0.372000	0.24591	0.533000	0.62120	AGT		0.343	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			G	74354363	A	G	74354363	3	3	247	1	0	0	0	0	1	0	0	0	361	188	7	4	756	4	AFM	4	74354363	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	75221	74354363	116799913	21	17539											
MMRN1	22915	broad.mit.edu	37	chr4	90874191	90874191	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgcacccatggtggcattTtttgcatctcatacgtatgg	8	15	9	9	1	1	0	1	0	1	0	2	0	1	0	1	3	3	4	1	3	3	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:90874191T>G	ENST00000394980.1	+	9	3628	c.3309T>G	c.(3307-3309)ttT>ttG	p.F1103L	MMRN1_ENST00000394981.1_Missense_Mutation_p.F406L|MMRN1_ENST00000264790.2_Missense_Mutation_p.F1103L|MMRN1_ENST00000508372.1_Missense_Mutation_p.F845L			Q13201	MMRN1_HUMAN	multimerin 1	1103	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGGTGGCATTTTTTGCATCTC	0.338																																						uc003hst.3																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3307-3309)ttT>ttG		Homo sapiens multimerin 1 (MMRN1), mRNA.							106	110	109					4																	90874191		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874191T>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3309T>G	4.37:g.90874191T>G	ENSP00000378431:p.Phe1103Leu					MMRN1_uc010iku.3_Missense_Mutation_p.F406L|MMRN1_uc011cds.2_Missense_Mutation_p.F845L	p.F1103L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3380	+		Hepatocellular(203;0.114)	1103			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3309T>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001331	0.74818	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	4.73	3.57	0.40892	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.083157	0.52532	D	0.000080	D	0.98560	0.9519	M	0.80982	2.52	0.34875	D	0.74402	D;D	0.76494	0.979;0.999	D;D	0.87578	0.917;0.998	D	0.99936	1.1357	10	0.87932	D	0	.	8.9381	0.35713	0.0:0.0866:0.0:0.9134	.	406;1103	Q13201-2;Q13201	.;MMRN1_HUMAN	L	1103;1103;406;845	ENSP00000378431:F1103L;ENSP00000264790:F1103L;ENSP00000378432:F406L;ENSP00000426461:F845L	ENSP00000264790:F1103L	F	+	3	2	MMRN1	91093214	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.333000	0.33816	2.077000	0.62373	0.397000	0.26171	TTT		0.338	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		G	90874191	T	G	90874191	3	3	247	1	0	0	0	0	1	0	0	0	9670	1838	64	5	3339	5	MMRN1	4	90874191	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	16519828	90874191	100280085	22	17540											
KLKB1	3818	broad.mit.edu	37	chr4	187157968	187157968	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttataaaggagttgataTgagaggagtcaattttaatg	15	14	10	2	0	1	2	1	2	0	1	1	5	1	4	0	2	0	1	0	2	6	7			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:187157968T>A	ENST00000264690.6	+	5	549	c.362T>A	c.(361-363)aTg>aAg	p.M121K	KLKB1_ENST00000513864.1_Missense_Mutation_p.M121K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	121	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAGTTGATATGAGAGGAGTC	0.378																																						uc003iyy.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(361-363)aTg>aAg		Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.							137	136	136					4																	187157968		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187157968T>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.362T>A	4.37:g.187157968T>A	ENSP00000264690:p.Met121Lys					KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.M83K	p.M121K	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	4	433	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	121			Apple 2.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.362T>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.57|19.57	3.852496|3.852496	0.71719|0.71719	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715|ENST00000511608	D;D;D;D;D|.	0.91740|.	-2.49;-2.49;-2.49;-2.9;-2.49|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77452|.	0.4132|.	M|M	0.86178|0.86178	2.8|2.8	0.44880|0.44880	D|D	0.997897|0.997897	D;D|.	0.65815|.	0.995;0.994|.	D;D|.	0.81914|.	0.995;0.985|.	T|.	0.80379|.	-0.1407|.	10|.	0.87932|.	D|.	0|.	.|.	12.9579|12.9579	0.58441|0.58441	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	83;121|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	K|R	121;121;83;83;121;83|169	ENSP00000412366:M121K;ENSP00000264690:M121K;ENSP00000415563:M83K;ENSP00000392231:M83K;ENSP00000424469:M121K|.	ENSP00000264690:M121K|.	M|X	+|+	2|1	0|0	KLKB1|KLKB1	187394962|187394962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	4.549000|4.549000	0.60726|0.60726	2.061000|2.061000	0.61500|0.61500	0.528000|0.528000	0.53228|0.53228	ATG|TGA		0.378	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		A	187157968	T	A	187157968	3	1	247	1	0	0	0	0	1	0	0	0	8412	1464	51	5	376	5	KLKB1	4	187157968	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	96283777	187157968	3996308	23	17541											
C5orf32	84418	broad.mit.edu	37	chr5	139622928	139622928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaagagatgagctaggaCcatccacctgcctcacagcc	14	5	9	13	0	1	3	1	1	0	2	2	5	2	4	5	1	3	1	5	1	3	1	rs200630553		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr5:139622928C>T	ENST00000261811.4	+	3	890	c.226C>T	c.(226-228)Cca>Tca	p.P76S	CYSTM1_ENST00000509789.2_3'UTR|PFDN1_ENST00000514611.1_5'Flank	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	76						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGAGCTAGGACCATCCACCTG	0.582																																						uc003lfd.3																			0											c.(226-228)Cca>Tca		Homo sapiens chromosome 5 open reading frame 32 (C5orf32), mRNA.							107	99	101					5																	139622928		2203	4300	6503	SO:0001583	missense	84418							g.chr5:139622928C>T	AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 32"	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.226C>T	5.37:g.139622928C>T	ENSP00000261811:p.Pro76Ser					CYSTM1_uc010jfi.3_Non-coding_Transcript	p.P76S	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN			2	464	+			76					Q8TBA5	Missense_Mutation	SNP	ENST00000261811.4	37	c.226C>T	CCDS4221.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417214	0.25552	.	.	ENSG00000120306	ENST00000261811	T	0.29917	1.55	5.4	-3.39	0.04868	.	2.551040	0.01388	N	0.013171	T	0.13628	0.0330	.	.	.	0.24107	N	0.99585	B	0.02656	0.0	B	0.01281	0.0	T	0.07102	-1.0790	9	0.16896	T	0.51	6.1303	0.4526	0.00504	0.2606:0.1763:0.3032:0.2598	.	76	Q9H1C7	CE032_HUMAN	S	76	ENSP00000261811:P76S	ENSP00000261811:P76S	P	+	1	0	C5orf32	139603112	0.000000	0.05858	0.834000	0.33040	0.888000	0.51559	-0.530000	0.06179	-0.987000	0.03494	-0.150000	0.13652	CCA		0.582	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251342.2	NM_032412		T	139622928	C	T	139622928	3	4	247	1	0	0	0	0	1	0	0	0	2291	507	18	3	232	3	C5orf32	5	139622928	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		139622928	41292332	24	17542											
SH3TC2	79628	broad.mit.edu	37	chr5	148417964	148417964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccaggtatgacaaagcCgatgatctcaatgctttctc	12	10	8	11	1	2	2	1	2	2	0	4	3	2	2	2	1	3	2	2	1	4	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr5:148417964C>T	ENST00000515425.1	-	8	996	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	SH3TC2_ENST00000512049.1_Missense_Mutation_p.G292S|SH3TC2_ENST00000394358.2_Missense_Mutation_p.G184S|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	299	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAAAGCCGATGATCTCA	0.473																																						uc003lpu.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(895-897)Ggc>Agc		Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.							209	206	207					5																	148417964		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148417964C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.895G>A	5.37:g.148417964C>T	ENSP00000423660:p.Gly299Ser					SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.G292S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G184S	p.G299S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1047	-			299			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.895G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181290	0.78677	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.27890	1.64;1.64;1.64	4.88	4.88	0.63580	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.39397	1.21	0.49130	D	0.999754	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.47573	-0.9107	10	0.72032	D	0.01	.	16.1499	0.81605	0.0:1.0:0.0:0.0	.	184;292;299	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	S	299;292;184	ENSP00000423660:G299S;ENSP00000421860:G292S;ENSP00000377886:G184S	ENSP00000377886:G184S	G	-	1	0	SH3TC2	148398157	1.000000	0.71417	0.990000	0.47175	0.465000	0.32709	5.989000	0.70587	2.424000	0.82194	0.561000	0.74099	GGC		0.473	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		T	148417964	C	T	148417964	3	4	247	1	0	0	0	0	1	0	0	0	14262	652	23	2	3011	2	SH3TC2	5	148417964	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	8795036	148417964	32497296	25	17543											
OR2J3	442186	broad.mit.edu	37	chr6	29080039	29080039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggtgatgtcctatgaCcgttatgcagctgtgtgtag	6	14	14	7	1	0	2	0	2	0	0	1	2	1	2	2	2	2	4	2	2	3	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:29080039C>T	ENST00000377169.1	+	1	372	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTCCTATGACCGTTATGCAG	0.488																																						uc011dll.2																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(370-372)gaC>gaT		Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.							388	432	417					6																	29080039		1377	2651	4028	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080039C>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.372C>T	6.37:g.29080039C>T							p.D124D	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			0	372	+			124					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.372C>T	CCDS43433.1																																																																																				0.488	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			T	29080039	C	T	29080039	2	4	247	1	0	0	0	0	0	0	0	1	11004	506	18	3		3	OR2J3	6	29080039	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08		29080039	142035028	26	17544											
TNXB	7148	broad.mit.edu	37	chr6	32041532	32041532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagactgtgacctctcGctggtctgccgccaccggca	5	10	12	14	3	2	2	0	1	2	1	3	2	2	2	4	2	1	4	4	2	1	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:32041532G>A	ENST00000375244.3	-	12	4774	c.4573C>T	c.(4573-4575)Cga>Tga	p.R1525*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.R1525*			P22105	TENX_HUMAN	tenascin XB	1612	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGACCTCTCGCTGGTCTGCC	0.567																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4573-4575)Cga>Tga		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							26	29	28					6																	32041532		1316	2594	3910	SO:0001587	stop_gained	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32041532G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4573C>T	6.37:g.32041532G>A	ENSP00000364393:p.Arg1525*						p.R1525*	NM_019105	NP_061978	P22105	TENX_HUMAN			11	4775	-			1612			Fibronectin type-III 7.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	ENST00000375244.3	37	c.4573C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.516113	0.99419	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	5.46	4.51	0.55191	.	1.157910	0.06514	N	0.738473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	12.3991	0.55402	0.0:0.0:0.7971:0.2029	.	.	.	.	X	1525	.	ENSP00000364393:R1525X	R	-	1	2	TNXB	32149510	0.869000	0.29996	0.951000	0.38953	0.147000	0.21601	1.563000	0.36364	2.552000	0.86080	0.543000	0.68304	CGA		0.567	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32041532	G	A	32041532	4	1	247	1	0	0	0	0	0	1	0	0	16343	1095	38	1	10272	1	TNXB	6	32041532	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	2961493	32041532	139073535	27	17545											
C6orf89	221477	broad.mit.edu	37	chr6	36891125	36891125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctatttcccctcaaggcTatgtcgacaccacccactgg	8	11	7	15	1	1	0	1	0	0	0	3	1	2	0	4	2	1	2	4	2	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:36891125T>A	ENST00000480824.2	+	9	1246	c.952T>A	c.(952-954)Tat>Aat	p.Y318N	C6orf89_ENST00000510325.2_Missense_Mutation_p.Y212N|C6orf89_ENST00000359359.2_Missense_Mutation_p.Y212N|C6orf89_ENST00000355190.3_Missense_Mutation_p.Y325N|C6orf89_ENST00000373685.1_Missense_Mutation_p.Y318N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	318					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCCTCAAGGCTATGTCGACAC	0.552																																						uc003omw.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(973-975)Tat>Aat		Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.							74	61	65					6																	36891125		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36891125T>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.952T>A	6.37:g.36891125T>A	ENSP00000475947:p.Tyr318Asn					C6orf89_uc003omv.3_Missense_Mutation_p.Y212N|C6orf89_uc003omx.3_Missense_Mutation_p.Y318N|C6orf89_uc011dtr.2_Missense_Mutation_p.Y212N	p.Y325N	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			7	1136	+			318					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.973T>A		.	.	.	.	.	.	.	.	.	.	T	16.06	3.017039	0.54576	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.66939	2.045	0.47862	D	0.999535	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.75473	-0.3305	9	0.87932	D	0	-1.6919	12.1157	0.53863	0.0:0.0:0.0:1.0	.	318;325	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	N	212;212;325;318	.	ENSP00000347322:Y325N	Y	+	1	0	C6orf89	36999103	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	3.917000	0.56424	2.128000	0.65567	0.459000	0.35465	TAT		0.552	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		A	36891125	T	A	36891125	3	1	247	1	0	0	0	0	1	0	0	0	2373	1522	53	5	1003	5	C6orf89	6	36891125	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	4849593	36891125	134223942	28	17546											
AOAH	313	broad.mit.edu	37	chr7	36616236	36616236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttcttttccataagCgaaggtaaatagatttttct	11	17	8	5	1	2	1	0	0	2	1	3	2	3	1	1	2	1	2	1	2	5	8	rs375296715		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:36616236C>T	ENST00000258749.5	-	13	1364	c.965G>A	c.(964-966)cGc>cAc	p.R322H	AOAH_ENST00000431169.1_Missense_Mutation_p.R322H|AOAH_ENST00000535891.1_Missense_Mutation_p.R290H|AOAH_ENST00000538464.1_Missense_Mutation_p.R44H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	322					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTCCATAAGCGAAGGTAAAT	0.303																																						uc022abu.1																			0		p.R322C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(964-966)cGc>cAc		Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	138	134	135		965,869,965	2.1	0.9	7		135	0,8600		0,0,4300	no	missense,missense,missense	AOAH	NM_001637.3,NM_001177507.1,NM_001177506.1	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	322/576,290/544,322/689	36616236	1,13005	2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36616236C>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.965G>A	7.37:g.36616236C>T	ENSP00000258749:p.Arg322His					AOAH_uc003tfh.4_Missense_Mutation_p.R322H|AOAH_uc011kba.2_Missense_Mutation_p.R290H	p.R322H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN			12	1366	-			322					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.965G>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522631	0.27211	2.27E-4	0.0	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.9	2.08	0.27032	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.274269	0.32608	N	0.005865	T	0.13200	0.0320	.	.	.	0.37370	D	0.911578	B;P;B	0.45715	0.027;0.865;0.274	B;B;B	0.38327	0.019;0.271;0.031	T	0.09729	-1.0661	9	0.59425	D	0.04	-9.7984	7.4318	0.27132	0.0:0.7257:0.0:0.2743	.	290;322;322	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	H	44;290;322;322;322	ENSP00000439283:R44H;ENSP00000441101:R290H;ENSP00000258749:R322H;ENSP00000405683:R322H	ENSP00000258749:R322H	R	-	2	0	AOAH	36582761	0.811000	0.29063	0.869000	0.34112	0.538000	0.34931	0.205000	0.17356	0.344000	0.23847	0.650000	0.86243	CGC		0.303	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		T	36616236	C	T	36616236	3	4	247	1	0	0	0	0	1	0	0	0	726	768	27	1	1139	1	AOAH	7	36616236	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		36616236	122522427	29	17547											
HECW1	23072	broad.mit.edu	37	chr7	43484236	43484236	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggaggagcccttggagGaggaagcaacgacccagagc	13	2	15	11	1	0	1	0	0	0	1	0	7	0	6	3	5	4	1	3	5	3	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:43484236G>T	ENST00000395891.2	+	11	2070	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E489*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCCTTGGAGGAGGAAGCAAC	0.632																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1465-1467)Gag>Tag		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							16	19	18					7																	43484236		2061	4197	6258	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484236G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1465G>T	7.37:g.43484236G>T	ENSP00000379228:p.Glu489*					HECW1_uc011kbi.1_Nonsense_Mutation_p.E489*	p.E489*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			10	2070	+			489			Glu-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.1465G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	38	6.807129	0.97853	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	4.89	2.0	0.26442	.	3.482350	0.00659	N	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	8.2742	0.31862	0.1377:0.2381:0.6242:0.0	.	.	.	.	X	489	.	ENSP00000265522:E489X	E	+	1	0	HECW1	43450761	0.162000	0.22906	0.000000	0.03702	0.069000	0.16628	1.684000	0.37649	0.179000	0.19938	0.561000	0.74099	GAG		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		T	43484236	G	T	43484236	4	4	247	1	0	0	0	0	0	1	0	0	7042	1175	41	5	1499	5	HECW1	7	43484236	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6868000	43484236	115654427	30	17548											
DDC	1644	broad.mit.edu	37	chr7	50534977	50534977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagcggggatcctggcGcaccagtgactcaaactcat	11	8	10	12	2	3	1	3	1	0	0	4	2	4	2	2	3	2	1	2	3	2	1	rs375309190		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50534977G>A	ENST00000444124.2	-	13	1377	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	DDC_ENST00000426377.1_Missense_Mutation_p.R315C|DDC_ENST00000431062.1_Missense_Mutation_p.R300C|DDC_ENST00000357936.5_Missense_Mutation_p.R393C	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	393					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GGATCCTGGCGCACCAGTGAC	0.433																																						uc003tpg.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(1177-1179)Cgc>Tgc		Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	136	136	136		898,943,1033,1063,1177,1177	3.3	0.3	7		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	DDC	NM_001242889.1,NM_001242888.1,NM_001242887.1,NM_001242886.1,NM_001082971.1,NM_000790.3	180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	300/388,315/403,345/433,355/443,393/481,393/481	50534977	1,13005	2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50534977G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1177C>T	7.37:g.50534977G>A	ENSP00000403644:p.Arg393Cys					DDC_uc022ade.1_Missense_Mutation_p.R315C|DDC_uc003tpf.4_Missense_Mutation_p.R393C|DDC_uc022adb.1_Missense_Mutation_p.R355C|DDC_uc022adc.1_Missense_Mutation_p.R345C|DDC_uc022add.1_Missense_Mutation_p.R300C	p.R393C	NM_001082971	NP_001076440	P20711	DDC_HUMAN			12	1378	-	Glioma(55;0.08)|all_neural(89;0.245)		393					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1177C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989252	0.35131	0.0	1.16E-4	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.08	3.26	0.37387	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.820885	0.11368	N	0.571232	T	0.51143	0.1657	M	0.92219	3.285	0.25023	N	0.991321	B;B	0.20780	0.048;0.048	B;B	0.15484	0.013;0.013	T	0.49790	-0.8902	10	0.44086	T	0.13	-2.046	7.9934	0.30254	0.073:0.0:0.6434:0.2836	.	393;393	Q53Y41;P20711	.;DDC_HUMAN	C	393;300;315;393	ENSP00000350616:R393C;ENSP00000399184:R300C;ENSP00000395069:R315C;ENSP00000403644:R393C	ENSP00000350616:R393C	R	-	1	0	DDC	50502471	0.922000	0.31269	0.334000	0.25495	0.194000	0.23727	2.770000	0.47662	0.630000	0.30394	-0.182000	0.12963	CGC		0.433	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			A	50534977	G	A	50534977	3	1	247	1	0	0	0	0	1	0	0	0	4325	1087	38	1	273	1	DDC	7	50534977	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	7050741	50534977	108603686	31	17549											
DDC	1644	broad.mit.edu	37	chr7	50607722	50607722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggggctgtgccagtgcGtcacctgcatgggaggacag	8	7	17	9	1	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50607722G>A	ENST00000444124.2	-	3	406	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Missense_Mutation_p.T69M|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.T69M|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.T69M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	69	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.T69M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GTGCCAGTGCGTCACCTGCAT	0.647																																						uc003tpg.4																			1	Substitution - Missense(1)	p.T69M(2)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(205-207)aCg>aTg		Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						93	75	81					7																	50607722		2202	4300	6502	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50607722G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.206C>T	7.37:g.50607722G>A	ENSP00000403644:p.Thr69Met					DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.T69M|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Missense_Mutation_p.T69M|DDC_uc022add.1_Missense_Mutation_p.T69M|DDC_uc022adf.1_Missense_Mutation_p.T69M|LOC100129427_uc022adg.1_Non-coding_Transcript	p.T69M	NM_001082971	NP_001076440	P20711	DDC_HUMAN			2	407	-	Glioma(55;0.08)|all_neural(89;0.245)		69			2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.206C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.476472|4.476472	0.84640|0.84640	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.39787	.|1.06;1.06;1.06;1.06	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.045704	.|0.85682	.|D	.|0.000000	T|T	0.76579|0.76579	0.4007|0.4007	H|H	0.95816|0.95816	3.725|3.725	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.83972|0.83972	0.0327|0.0327	5|10	.|0.87932	.|D	.|0	-10.3752|-10.3752	19.4023|19.4023	0.94635|0.94635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|69;69	.|Q53Y41;P20711	.|.;DDC_HUMAN	C|M	35|69	.|ENSP00000350616:T69M;ENSP00000399184:T69M;ENSP00000403644:T69M;ENSP00000370371:T69M	.|ENSP00000350616:T69M	R|T	-|-	1|2	0|0	DDC|DDC	50575216|50575216	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.920000|0.920000	0.55202|0.55202	6.744000|6.744000	0.74854|0.74854	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.647	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			A	50607722	G	A	50607722	3	1	247	1	0	0	0	0	1	0	0	0	4325	1145	40	1	1284	1	DDC	7	50607722	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	72745	50607722	108530941	32	17550											
SEMA3D	223117	broad.mit.edu	37	chr7	84727157	84727157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaagtcaaccagactgagTagaaagatgtggtctttggc	12	12	11	6	0	2	4	1	1	1	3	2	4	2	4	1	2	1	1	1	2	4	4	rs561234345		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:84727157T>C	ENST00000284136.6	-	2	319	c.276A>G	c.(274-276)ctA>ctG	p.L92L	SEMA3D_ENST00000444867.1_Silent_p.L92L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	92	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCAGACTGAGTAGAAAGATGT	0.363																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(274-276)ctA>ctG		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.							111	115	113					7																	84727157		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84727157T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.276A>G	7.37:g.84727157T>C						SEMA3D_uc010led.3_Silent_p.L92L|SEMA3D_uc010lee.1_Silent_p.L92L	p.L92L	NM_152754	NP_689967	O95025	SEM3D_HUMAN			1	316	-			92			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.276A>G	CCDS34676.1																																																																																				0.363	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		C	84727157	T	C	84727157	2	2	247	1	0	0	0	0	0	0	0	1	14027	1625	57	4		4	SEMA3D	7	84727157	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	34119435	84727157	74411506	33	17551											
ADAM22	53616	broad.mit.edu	37	chr7	87774461	87774461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgatcctcctgagtgtGgcaatggcttcattgaaact	8	15	9	9	0	2	3	1	3	1	0	4	3	4	3	2	2	1	2	2	2	2	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:87774461G>A	ENST00000265727.7	+	16	1421	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	ADAM22_ENST00000398204.4_Missense_Mutation_p.G448S|ADAM22_ENST00000398201.4_Missense_Mutation_p.G448S|ADAM22_ENST00000398209.3_Missense_Mutation_p.G448S|ADAM22_ENST00000315984.7_Missense_Mutation_p.G448S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	448	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGAGTGTGGCAATGGCTT	0.408																																						uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1342-1344)Ggc>Agc		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							135	125	128					7																	87774461		1847	4098	5945	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87774461G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1342G>A	7.37:g.87774461G>A	ENSP00000265727:p.Gly448Ser					ADAM22_uc003ujk.2_Missense_Mutation_p.G448S|ADAM22_uc003ujl.2_Missense_Mutation_p.G448S|ADAM22_uc003ujm.3_Missense_Mutation_p.G448S|ADAM22_uc003ujo.3_Missense_Mutation_p.G448S|ADAM22_uc003ujp.1_Missense_Mutation_p.G500S	p.G448S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1557	+	Esophageal squamous(14;0.00202)		448			Disintegrin.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1342G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729528	0.96856	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.06068	3.35;3.4;3.47;3.54;3.51;3.46	5.88	5.88	0.94601	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	H	0.99261	4.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69551	-0.5115	10	0.87932	D	0	.	19.0095	0.92867	0.0:0.0:1.0:0.0	.	500;448;448;448	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	S	448;448;448;448;448;415	ENSP00000381262:G448S;ENSP00000381260:G448S;ENSP00000265727:G448S;ENSP00000315900:G448S;ENSP00000381267:G448S;ENSP00000381261:G415S	ENSP00000265727:G448S	G	+	1	0	ADAM22	87612397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.011000	0.93618	2.779000	0.95612	0.650000	0.86243	GGC		0.408	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		A	87774461	G	A	87774461	3	1	247	1	0	0	0	0	1	0	0	0	244	1348	47	3	1404	3	ADAM22	7	87774461	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	3047304	87774461	71364202	34	17552											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764823	138764823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgagatcgtccacaggCgcgtcctccagggaagccct	7	6	14	14	4	0	1	0	1	0	1	4	3	3	2	4	3	1	0	4	3	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:138764823C>T	ENST00000242351.5	-	4	1180	c.864G>A	c.(862-864)gcG>gcA	p.A288A	ZC3HAV1_ENST00000471652.1_Silent_p.A288A|ZC3HAV1_ENST00000464606.1_Silent_p.A288A	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	288					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGTCCACAGGCGCGTCCTCCA	0.587																																						uc003vun.3																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(862-864)gcG>gcA		Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.							91	93	93					7																	138764823		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764823C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.864G>A	7.37:g.138764823C>T						ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.A288A	p.A288A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			3	1252	-			288					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.864G>A	CCDS5851.1																																																																																				0.587	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		T	138764823	C	T	138764823	2	4	247	1	0	0	0	0	0	0	0	1	17572	755	27	1		1	ZC3HAV1	7	138764823	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	50990362	138764823	20373840	35	17553											
MKRN1	23608	broad.mit.edu	37	chr7	140154505	140154505	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctctttcctcaatgagttCccagaagtggttccttcgtt	6	16	7	12	1	2	2	1	1	1	1	7	2	5	2	3	1	0	3	3	1	2	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:140154505C>A	ENST00000255977.2	-	8	1485	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	MKRN1_ENST00000437223.2_Nonsense_Mutation_p.E155*|MKRN1_ENST00000474576.1_Nonsense_Mutation_p.E357*	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	421					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCAATGAGTTCCCAGAAGTGG	0.468																																						uc003vvt.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1261-1263)Gaa>Taa		Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.							91	79	83					7																	140154505		2203	4300	6503	SO:0001587	stop_gained	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154505C>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1261G>T	7.37:g.140154505C>A	ENSP00000255977:p.Glu421*					MKRN1_uc003vvs.2_Nonsense_Mutation_p.E357*|MKRN1_uc011krd.1_Nonsense_Mutation_p.E155*	p.E421*	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			7	1486	-	Melanoma(164;0.00956)		421					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Nonsense_Mutation	SNP	ENST00000255977.2	37	c.1261G>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218609	0.97385	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576	.	.	.	5.06	5.06	0.68205	.	0.137848	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6157	0.91302	0.0:1.0:0.0:0.0	.	.	.	.	X	421;357;155;357	.	ENSP00000255977:E421X	E	-	1	0	MKRN1	139800974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.266000	0.78452	2.629000	0.89072	0.650000	0.86243	GAA		0.468	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		A	140154505	C	A	140154505	4	1	247	1	0	0	0	0	0	1	0	0	9606	864	30	5	191	5	MKRN1	7	140154505	Nonsense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	1389682	140154505	18984158	36	17554											
PIWIL2	55124	broad.mit.edu	37	chr8	22165552	22165552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaccaatgaactgatgcGttgggggctccgtctgcaaa	10	8	12	11	2	1	2	0	2	1	0	2	2	2	2	3	2	4	3	3	2	3	1	rs529353152		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:22165552G>A	ENST00000454009.2	+	14	2161	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	PIWIL2_ENST00000356766.6_Missense_Mutation_p.R551H|PIWIL2_ENST00000521356.1_Missense_Mutation_p.R551H	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	551					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAACTGATGCGTTGGGGGCTC	0.453													G|||	1	0.000199681	0	0	5008	,	,		14581	0.001		0	False		,,,				2504	0					uc003xbn.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1651-1653)cGt>cAt		Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.							60	54	56					8																	22165552		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22165552G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1652G>A	8.37:g.22165552G>A	ENSP00000406956:p.Arg551His					PIWIL2_uc011kzf.1_Missense_Mutation_p.R551H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R551H	p.R551H	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	13	1800	+			551					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1652G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039497	0.55003	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.14022	2.54;2.54;2.54	5.99	5.99	0.97316	Ribonuclease H-like (1);	0.152660	0.64402	D	0.000012	T	0.21267	0.0512	M	0.73598	2.24	0.58432	D	0.999998	B;P	0.48911	0.106;0.917	B;B	0.38562	0.027;0.276	T	0.02625	-1.1132	10	0.59425	D	0.04	-0.1693	19.3186	0.94226	0.0:0.0:1.0:0.0	.	551;551	E7ECA4;Q8TC59	.;PIWL2_HUMAN	H	551	ENSP00000349208:R551H;ENSP00000428267:R551H;ENSP00000406956:R551H	ENSP00000349208:R551H	R	+	2	0	PIWIL2	22221497	0.998000	0.40836	0.895000	0.35142	0.584000	0.36387	4.355000	0.59424	2.850000	0.98022	0.650000	0.86243	CGT		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			A	22165552	G	A	22165552	3	1	247	1	0	0	0	0	1	0	0	0	11958	1145	40	1	1702	1	PIWIL2	8	22165552	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		22165552	124198470	37	17555											
ADAM28	10863	broad.mit.edu	37	chr8	24181517	24181517	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattgctcagttaatcacGtatgtacagattttctccca	11	15	6	9	1	3	1	2	0	1	1	4	2	3	1	1	0	2	4	1	0	4	7	rs138768775		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:24181517G>A	ENST00000265769.4	+	9	1000		c.e9+1		RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site|ADAM28_ENST00000518516.1_Splice_Site|ADAM28_ENST00000540823.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.		G	,	0,4404		0,0,2202	96	97	97		,	4.9	1	8	dbSNP_134	97	1,8595	1.2+/-3.3	0,1,4297	yes	splice-5,splice-5	ADAM28	NM_014265.4,NM_021777.3	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	,	24181517	1,12999	2202	4298	6500	SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181517G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.890+1G>A	8.37:g.24181517G>A						ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	p.T297_splice	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	973	+		Prostate(55;0.0959)	297			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	SNP	ENST00000265769.4	37	c.890_splice	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159541	0.57368	0.0	1.16E-4	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8691	0.63608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM28	24237462	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.795000	0.75140	2.416000	0.81992	0.650000	0.86243	.		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Intron	A	24181517	G	A	24181517	5	1	247	1	0	0	0	0	0	0	1	0	246	1159	40	1	925	1	ADAM28	8	24181517	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	2015965	24181517	122182505	38	17556											
PTGR1	22949	broad.mit.edu	37	chr9	114332377	114332377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggagctccttacctctaaGacccatttcagcaagtcctt	9	11	6	15	1	2	1	1	0	1	1	4	2	4	2	5	1	3	2	5	1	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:114332377G>A	ENST00000407693.2	-	9	1135	c.873C>T	c.(871-873)gtC>gtT	p.V291V	PTGR1_ENST00000538962.1_Silent_p.V291V|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000238248.3_Silent_p.V168V|PTGR1_ENST00000309195.5_Silent_p.V291V	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	291					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTACCTCTAAGACCCATTTCA	0.498																																					Ovarian(200;132 2151 7551 19220 46064)	uc010mue.3																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(871-873)gtC>gtT		Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.							58	53	55					9																	114332377		2203	4300	6503	SO:0001819	synonymous_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114332377G>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.873C>T	9.37:g.114332377G>A						ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.2_Silent_p.V291V|PTGR1_uc004bfh.2_Silent_p.V291V|PTGR1_uc004bfi.3_Silent_p.V291V|PTGR1_uc004bfj.3_Silent_p.V168V	p.V291V	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN			8	1136	-			291					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Silent	SNP	ENST00000407693.2	37	c.873C>T	CCDS6779.1																																																																																				0.498	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			A	114332377	G	A	114332377	2	1	247	1	0	0	0	0	0	0	0	1	12753	929	33	3		3	PTGR1	9	114332377	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		114332377	26881054	39	17557											
TPRN	286262	broad.mit.edu	37	chr9	140086667	140086667	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacacatgggctcgccCgggtgtcagactccccccag	6	7	13	15	2	1	1	1	0	0	1	3	2	2	2	4	3	0	1	4	3	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:140086667C>T	ENST00000409012.4	-	4	2160				TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.R645Q	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin						sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTCGCCCGGGTGTCAGA	0.662																																						uc004clt.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(2116-2118)cGg>cAg		Homo sapiens taperin (TPRN), mRNA.							57	66	63					9																	140086667		2203	4300	6503	SO:0001627	intron_variant	286262				sensory perception of sound	stereocilium		g.chr9:140086667C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2074-41G>A	9.37:g.140086667C>T						TPRN_uc004clu.3_Intron	p.R706Q	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN			2	2117	-			691					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.2117G>A	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	1.201	-0.632601	0.03584	.	.	ENSG00000176058	ENST00000333046;ENST00000321773	.	.	.	3.95	0.811	0.18739	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25572	-1.0128	5	0.13853	T	0.58	.	3.0567	0.06187	0.2114:0.5534:0.0:0.2352	.	.	.	.	Q	504;645	.	ENSP00000313704:R645Q	R	-	2	0	TPRN	139206488	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.467000	0.22035	0.457000	0.26962	-0.379000	0.06801	CGG		0.662	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		T	140086667	C	T	140086667	1	4	247	0	1	0	0	0	0	0	0	0	16418	652	23	2		2	TPRN	9	140086667	Intron	SNP	C	TCGA-41-3393-01A-01D-1353-08	25754290	140086667	1126764	40	17558											
CACNA1B	774	broad.mit.edu	37	chr9	141012527	141012527	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgtggggcggtcaggAgcactggtgagcactcccgg	6	7	16	12	2	1	1	1	1	0	0	3	2	3	2	2	6	2	2	2	6	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:141012527A>T	ENST00000371372.1	+	43	6052	c.5907A>T	c.(5905-5907)ggA>ggT	p.G1969G	CACNA1B_ENST00000371363.1_Silent_p.G1967G|CACNA1B_ENST00000277549.5_Silent_p.G1163G|CACNA1B_ENST00000371355.4_Silent_p.G1970G|CACNA1B_ENST00000371357.1_Silent_p.G1968G|CACNA1B_ENST00000277551.2_Silent_p.G1969G	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1969					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGGTCAGGAGCACTGGTGA	0.642																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(5899-5901)ggA>ggT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						18	21	20					9																	141012527		1900	4123	6023	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012527A>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5907A>T	9.37:g.141012527A>T						CACNA1B_uc022bqn.1_Silent_p.G1967G|CACNA1B_uc004coi.3_Silent_p.G1181G	p.G1967G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	6046	+	all_cancers(76;0.166)		1969					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.5901A>T	CCDS59522.1																																																																																				0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	141012527	A	T	141012527	2	4	247	1	0	0	0	0	0	0	0	1	2539	291	11	5		5	CACNA1B	9	141012527	Silent	SNP	A	TCGA-41-3393-01A-01D-1353-08	925860	141012527	200904	41	17559											
TNKS2	80351	broad.mit.edu	37	chr10	93579732	93579732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcaggatataacagaGtaaagattgtacagctgtta	15	10	11	5	0	0	2	0	0	0	2	0	3	0	3	0	2	4	6	0	2	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:93579732G>A	ENST00000371627.4	+	6	1049	c.670G>A	c.(670-672)Gta>Ata	p.V224I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	224					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATATAACAGAGTAAAGATTGT	0.328																																						uc001khp.3																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(670-672)Gta>Ata		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.							118	122	120					10																	93579732		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93579732G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.670G>A	10.37:g.93579732G>A	ENSP00000360689:p.Val224Ile						p.V224I	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			5	967	+		Colorectal(252;0.162)	224					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.670G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472025	0.63737	.	.	ENSG00000107854	ENST00000371627	T	0.63913	-0.07	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.239165	0.28877	N	0.013856	T	0.50888	0.1642	N	0.21448	0.665	0.58432	D	0.999994	B	0.14438	0.01	B	0.13407	0.009	T	0.40590	-0.9555	10	0.23302	T	0.38	.	19.3041	0.94153	0.0:0.0:1.0:0.0	.	224	Q9H2K2	TNKS2_HUMAN	I	224	ENSP00000360689:V224I	ENSP00000360689:V224I	V	+	1	0	TNKS2	93569712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.964000	0.87933	2.561000	0.86390	0.557000	0.71058	GTA		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		A	93579732	G	A	93579732	3	1	247	1	0	0	0	0	1	0	0	0	16318	1029	36	3	692	3	TNKS2	10	93579732	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		93579732	41955015	42	17560											
MKI67	4288	broad.mit.edu	37	chr10	129902650	129902650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatgtccactttcaccaggGgtatcttgagcctttgcttg	6	15	9	11	0	3	1	2	1	1	0	4	1	4	1	3	2	2	2	3	2	1	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:129902650G>A	ENST00000368654.3	-	13	7829	c.7454C>T	c.(7453-7455)cCc>cTc	p.P2485L	MKI67_ENST00000368653.3_Missense_Mutation_p.P2125L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2485	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCACCAGGGGTATCTTGAG	0.473																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7453-7455)cCc>cTc		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							146	151	149					10																	129902650		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902650G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7454C>T	10.37:g.129902650G>A	ENSP00000357643:p.Pro2485Leu					MKI67_uc001lkf.3_Missense_Mutation_p.P2125L|MKI67_uc009yav.1_Missense_Mutation_p.P2060L|MKI67_uc009yaw.1_Missense_Mutation_p.P1635L	p.P2485L	NM_002417	NP_002408	P46013	KI67_HUMAN			12	7649	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2485			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7454C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	6.415	0.444671	0.12164	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	2.75	0.758	0.18432	.	44.967400	0.00166	N	0.000000	T	0.02649	0.0080	L	0.36672	1.1	0.09310	N	1	B;B;B	0.15719	0.004;0.0;0.014	B;B;B	0.18871	0.006;0.0;0.023	T	0.45293	-0.9271	10	0.45353	T	0.12	.	2.2986	0.04156	0.1243:0.2804:0.4367:0.1586	.	2484;2125;2485	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2485;2125;2484	ENSP00000357643:P2485L;ENSP00000357642:P2125L	ENSP00000357642:P2125L	P	-	2	0	MKI67	129792640	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.023000	0.13533	0.195000	0.20347	-0.309000	0.09137	CCC		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129902650	G	A	129902650	3	1	247	1	0	0	0	0	1	0	0	0	9598	1232	43	3	2328	3	MKI67	10	129902650	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	36322918	129902650	5632097	43	17561											
BIRC3	330	broad.mit.edu	37	chr11	102195409	102195409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctcgtgctggtttctatTacactggtgtgaatgacaag	8	15	11	7	1	1	2	0	2	1	0	2	2	1	2	0	2	3	3	0	2	4	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:102195409T>C	ENST00000263464.3	+	2	2919	c.169T>C	c.(169-171)Tac>Cac	p.Y57H	BIRC3_ENST00000532808.1_Missense_Mutation_p.Y57H	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	57					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGGTTTCTATTACACTGGTGT	0.438			T	MALT1	MALT																																	uc001pgx.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(169-171)Tac>Cac		Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.							157	150	153					11																	102195409		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195409T>C	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.169T>C	11.37:g.102195409T>C	ENSP00000263464:p.Tyr57His						p.Y57H	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	1	2964	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	57					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.169T>C	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317049	0.81469	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.07688	3.17;3.17	5.93	4.81	0.61882	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01743	-1.1283	10	0.87932	D	0	.	11.8094	0.52173	0.0:0.0682:0.0:0.9318	.	57	Q13489	BIRC3_HUMAN	H	57	ENSP00000263464:Y57H;ENSP00000432907:Y57H	ENSP00000263464:Y57H	Y	+	1	0	BIRC3	101700619	1.000000	0.71417	0.867000	0.34043	0.983000	0.72400	8.040000	0.89188	1.079000	0.41038	0.482000	0.46254	TAC		0.438	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		C	102195409	T	C	102195409	3	2	247	1	0	0	0	0	1	0	0	0	1436	1754	61	4	171	4	BIRC3	11	102195409	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08		102195409	32811107	44	17562											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	11	10	10	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	4	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						uc001qej.2																			0		p.F53F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.							155	134	140					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu						p.F53L	NM_001143820	NP_001137292	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	2	242	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		G	128426243	A	G	128426243	3	3	247	1	0	0	0	0	1	0	0	0	5275	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	26230834	128426243	6580273	45	17563											
KCNA5	3741	broad.mit.edu	37	chr12	5153876	5153876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccgcctgcggaggcCggtcaacgtctccctggacg	4	5	17	15	6	2	0	1	0	1	0	3	2	2	2	4	6	2	0	4	6	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:5153876C>T	ENST00000252321.3	+	1	792	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	188				RP -> G (in Ref. 1; AAA61276). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.P188L(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTGCGGAGGCCGGTCAACGTC	0.617																																						uc001qni.3																			1	Substitution - Missense(1)	p.P188L(2)	large_intestine(1)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(562-564)cCg>cTg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.							38	42	40					12																	5153876		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153876C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.563C>T	12.37:g.5153876C>T	ENSP00000252321:p.Pro188Leu						p.P188L	NM_002234	NP_002225	P22460	KCNA5_HUMAN			0	792	+			188	RP -> G (in Ref. 1; AAA61276).				Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.563C>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491005	0.84962	.	.	ENSG00000130037	ENST00000252321	T	0.77489	-1.1	4.77	4.77	0.60923	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.90635	0.7063	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92943	0.6374	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	188	P22460	KCNA5_HUMAN	L	188	ENSP00000252321:P188L	ENSP00000252321:P188L	P	+	2	0	KCNA5	5024137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.478000	0.83669	0.561000	0.74099	CCG		0.617	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		T	5153876	C	T	5153876	3	4	247	1	0	0	0	0	1	0	0	0	8006	652	23	2	565	2	KCNA5	12	5153876	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		5153876	128698019	46	17564											
SMARCD1	6602	broad.mit.edu	37	chr12	50484023	50484023	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatactttggttccctgcaGcctccccagtttaaattaga	9	14	6	12	0	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	5	7			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:50484023G>A	ENST00000394963.4	+	8	1271		c.e8-1		SMARCD1_ENST00000548573.1_Splice_Site|SMARCD1_ENST00000381513.4_Splice_Site	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTTCCCTGCAGCCTCCCCAGT	0.458																																						uc001rvx.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.e8-1		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.							83	90	88					12																	50484023		2203	4300	6503	SO:0001630	splice_region_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50484023G>A	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.874-1G>A	12.37:g.50484023G>A						SMARCD1_uc001rvy.4_Splice_Site_p.P292_splice|SMARCD1_uc009zlp.3_Splice_Site_p.P251_splice	p.P292_splice	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN			8	1044	+			292			Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.			Splice_Site	SNP	ENST00000394963.4	37	c.874_splice	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192982	0.78902	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4236	0.90600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCD1	48770290	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.595000	0.98260	2.647000	0.89833	0.655000	0.94253	.		0.458	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	Intron	A	50484023	G	A	50484023	5	1	247	1	0	0	0	0	0	0	1	0	14777	985	34	3	903	3	SMARCD1	12	50484023	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	45330147	50484023	83367872	47	17565											
LACRT	90070	broad.mit.edu	37	chr12	55025622	55025622	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttttctccactatggaTtctaattttggagcagaaca	12	15	6	8	0	2	1	0	0	2	1	3	3	2	3	1	2	3	1	1	2	4	8			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:55025622T>C	ENST00000257867.4	-	4	308	c.255A>G	c.(253-255)aaA>aaG	p.K85K	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	85					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCACTATGGATTCTAATTTTG	0.468																																						uc001sgi.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.e4-1		Homo sapiens lacritin (LACRT), mRNA.							157	145	149					12																	55025622		2203	4300	6503	SO:0001630	splice_region_variant	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55025622T>C	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.254-1A>G	12.37:g.55025622T>C							p.K85_splice	NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN			4	292	-			85						Silent	SNP	ENST00000257867.4	37	c.254_splice	CCDS8883.1																																																																																				0.468	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277	Silent	C	55025622	T	C	55025622	5	2	247	1	0	0	0	0	0	0	1	0	8596	1507	52	4	169	4	LACRT	12	55025622	Splice_Site	SNP	T	TCGA-41-3393-01A-01D-1353-08	4541599	55025622	78826273	48	17566											
MYF5	4617	broad.mit.edu	37	chr12	81111227	81111227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctcaggaatgccatcCgctacatcgagagcctgcag	11	7	10	13	2	1	2	1	0	0	2	4	4	3	3	4	1	4	2	4	1	2	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:81111227C>T	ENST00000228644.3	+	1	537	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	129	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAATGCCATCCGCTACATCGA	0.587																																						uc001szg.2																			2	Substitution - Missense(2)	p.R129S(2)|p.R129C(2)	lung(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(385-387)Cgc>Tgc		Homo sapiens myogenic factor 5 (MYF5), mRNA.							91	90	91					12																	81111227		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111227C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.385C>T	12.37:g.81111227C>T	ENSP00000228644:p.Arg129Cys						p.R129C	NM_005593	NP_005584	P13349	MYF5_HUMAN			0	520	+			129			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.385C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478591	0.63849	.	.	ENSG00000111049	ENST00000228644	D	0.98028	-4.67	6.06	5.1	0.69264	Helix-loop-helix DNA-binding (5);	0.103424	0.64402	D	0.000004	D	0.97371	0.9140	L	0.37507	1.11	0.49582	D	0.999805	D	0.76494	0.999	P	0.60609	0.877	D	0.97499	1.0059	10	0.62326	D	0.03	-7.3133	16.3625	0.83273	0.1948:0.8052:0.0:0.0	.	129	P13349	MYF5_HUMAN	C	129	ENSP00000228644:R129C	ENSP00000228644:R129C	R	+	1	0	MYF5	79635358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.807000	0.38902	2.882000	0.98803	0.655000	0.94253	CGC		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		T	81111227	C	T	81111227	3	4	247	1	0	0	0	0	1	0	0	0	10027	652	23	2	387	2	MYF5	12	81111227	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	26085605	81111227	52740668	49	17567											
TMEM132D	121256	broad.mit.edu	37	chr12	129558604	129558604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacccttttcctttttgagGtaggggatgttgggggctca	5	16	13	7	0	1	1	1	1	0	0	2	2	2	2	2	5	1	3	2	5	2	7			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:129558604G>A	ENST00000422113.2	-	9	3442	c.3116C>T	c.(3115-3117)aCc>aTc	p.T1039I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T577I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1039					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTTTGAGGTAGGGGATGT	0.488																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3115-3117)aCc>aTc		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							113	118	116					12																	129558604		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558604G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3116C>T	12.37:g.129558604G>A	ENSP00000408581:p.Thr1039Ile					TMEM132D_uc001uia.2_Missense_Mutation_p.T577I	p.T1039I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	3444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1039					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3116C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920650	0.73213	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.16597	2.33;3.23	4.16	3.25	0.37280	.	0.162825	0.41823	D	0.000806	T	0.45377	0.1339	M	0.86740	2.835	0.40609	D	0.981651	D;D	0.76494	0.992;0.999	P;D	0.72625	0.868;0.978	T	0.55134	-0.8188	9	.	.	.	-42.2767	13.9992	0.64421	0.0:0.1531:0.8469:0.0	.	1039;577	Q14C87;Q14C87-2	T132D_HUMAN;.	I	577;1039	ENSP00000374092:T577I;ENSP00000408581:T1039I	.	T	-	2	0	TMEM132D	128124557	1.000000	0.71417	0.734000	0.30879	0.900000	0.52787	9.505000	0.97989	0.833000	0.34828	0.563000	0.77884	ACC		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129558604	G	A	129558604	3	1	247	1	0	0	0	0	1	0	0	0	16044	1261	44	3	187	3	TMEM132D	12	129558604	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	48447377	129558604	4293291	50	17568											
HECTD1	25831	broad.mit.edu	37	chr14	31675061	31675061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgcatagctgttcaaGggctattagttgcatgtccc	9	12	10	10	0	1	0	1	0	0	0	2	0	2	0	1	1	4	7	1	1	4	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:31675061G>A	ENST00000399332.1	-	2	570	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	HECTD1_ENST00000553700.1_Missense_Mutation_p.L28F|HECTD1_ENST00000556474.1_5'UTR	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	28					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCTGTTCAAGGGCTATTAGT	0.428																																						uc001wrc.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(82-84)Ctt>Ttt		Homo sapiens HECT domain containing 1 (HECTD1), mRNA.							191	180	183					14																	31675061		1999	4168	6167	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31675061G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.82C>T	14.37:g.31675061G>A	ENSP00000382269:p.Leu28Phe					HECTD1_uc001wre.3_Non-coding_Transcript	p.L28F	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	1	571	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		28					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.82C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380082	0.82682	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.75821	-0.97;-0.97;-0.97	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.85299	2.745	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	D	0.87145	0.2205	10	0.87932	D	0	-10.8445	10.097	0.42482	0.1486:0.0:0.8514:0.0	.	28	Q9ULT8	HECD1_HUMAN	F	28	ENSP00000450697:L28F;ENSP00000382269:L28F;ENSP00000452015:L28F	ENSP00000261312:L28F	L	-	1	0	HECTD1	30744812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.166000	0.42406	2.626000	0.88956	0.561000	0.74099	CTT		0.428	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			A	31675061	G	A	31675061	3	1	247	1	0	0	0	0	1	0	0	0	7039	1000	35	3	7918	3	HECTD1	14	31675061	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		31675061	75674479	51	17569											
ARHGAP5	394	broad.mit.edu	37	chr14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagaaaagataaatacAtggctaatcttccatttaca	18	11	5	7	0	2	3	1	0	1	3	3	3	3	3	1	1	2	1	1	1	7	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:32561946A>T	ENST00000345122.3	+	2	2386	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.M691L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.M691L|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.M691L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	691					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2071-2073)Atg>Ttg		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							60	61	61					14																	32561946		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561946A>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2071A>T	14.37:g.32561946A>T	ENSP00000371897:p.Met691Leu					ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.M691L	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	2310	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		691					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2071A>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.637114	0.00799	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.54	5.54	0.83059	.	0.219081	0.64402	D	0.000020	T	0.03739	0.0106	N	0.02315	-0.6	0.33199	D	0.551871	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.20240	-1.0281	10	0.08381	T	0.77	.	15.9755	0.80060	1.0:0.0:0.0:0.0	.	691;691	Q13017-2;Q13017	.;RHG05_HUMAN	L	691	ENSP00000452222:M691L;ENSP00000441692:M691L;ENSP00000371897:M691L;ENSP00000393307:M691L	ENSP00000371897:M691L	M	+	1	0	ARHGAP5	31631697	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.489000	0.60309	2.219000	0.72066	0.528000	0.53228	ATG		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32561946	A	T	32561946	3	4	247	1	0	0	0	0	1	0	0	0	886	217	8	5	2073	5	ARHGAP5	14	32561946	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	886885	32561946	74787594	52	17570											
DICER1	23405	broad.mit.edu	37	chr14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatatggtttatatttgcGtaagatttcgagcagtttga	10	17	9	5	2	1	2	1	1	0	1	2	3	1	2	0	1	2	4	0	1	4	8			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:95590756G>A	ENST00000526495.1	-	10	1444	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	DICER1_ENST00000393063.1_Missense_Mutation_p.R385C|DICER1_ENST00000541352.1_Missense_Mutation_p.R385C|DICER1_ENST00000343455.3_Missense_Mutation_p.R385C|DICER1_ENST00000527414.1_Missense_Mutation_p.R385C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	385	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1153-1155)Cgc>Tgc		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							147	146	147					14																	95590756		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590756G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1153C>T	14.37:g.95590756G>A	ENSP00000437256:p.Arg385Cys					DICER1_uc021sbc.1_Missense_Mutation_p.R385C|DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	p.R385C	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	8	1365	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	385			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1153C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625808	0.87560	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.52	5.54	5.54	0.83059	.	0.096661	0.64402	D	0.000001	T	0.65626	0.2709	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	P	0.49999	0.628	T	0.68777	-0.5319	10	0.62326	D	0.03	-17.1745	19.4888	0.95042	0.0:0.0:1.0:0.0	.	385	Q9UPY3	DICER_HUMAN	C	385	ENSP00000343745:R385C;ENSP00000437256:R385C;ENSP00000376783:R385C;ENSP00000435681:R385C;ENSP00000444719:R385C	ENSP00000343745:R385C	R	-	1	0	DICER1	94660509	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	9.187000	0.94912	2.607000	0.88179	0.585000	0.79938	CGC		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			A	95590756	G	A	95590756	3	1	247	1	0	0	0	0	1	0	0	0	4521	1145	40	1	4695	1	DICER1	14	95590756	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	63028810	95590756	11758784	53	17571											
GABRA5	2558	broad.mit.edu	37	chr15	27128491	27128491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctttccactaggagtacaCcatagacgtgtttttccgac	9	13	7	12	2	0	1	0	0	0	1	3	3	3	2	4	1	1	2	4	1	3	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:27128491C>A	ENST00000335625.5	+	6	1172	c.284C>A	c.(283-285)aCc>aAc	p.T95N	GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.T95N|GABRA5_ENST00000355395.5_Missense_Mutation_p.T95N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	95					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TAGGAGTACACCATAGACGTG	0.592																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(283-285)aCc>aAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						91	98	96					15																	27128491		2005	4172	6177	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128491C>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.284C>A	15.37:g.27128491C>A	ENSP00000335592:p.Thr95Asn					GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.T95N	p.T95N	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	5	816	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	95					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.284C>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459586	0.84317	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92234	0.5795	10	0.72032	D	0.01	.	18.53	0.90987	0.0:1.0:0.0:0.0	.	95	P31644	GBRA5_HUMAN	N	95;95;63;95;95;95;63	ENSP00000335592:T95N;ENSP00000347557:T95N;ENSP00000450653:T63N;ENSP00000382953:T95N;ENSP00000450806:T95N;ENSP00000450717:T95N;ENSP00000450529:T63N	ENSP00000335592:T95N	T	+	2	0	GABRA5	24679584	1.000000	0.71417	0.977000	0.42913	0.556000	0.35491	7.535000	0.82014	2.695000	0.91970	0.561000	0.74099	ACC		0.592	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27128491	C	A	27128491	3	1	247	1	0	0	0	0	1	0	0	0	6164	507	18	5	298	5	GABRA5	15	27128491	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		27128491	75402901	54	17572											
ALPK3	57538	broad.mit.edu	37	chr15	85407896	85407896	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcacagacttggcaGgtacgagggtgtgagggtgc	7	10	16	8	1	1	2	1	1	0	1	2	3	2	2	1	4	2	2	1	4	1	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:85407896G>A	ENST00000258888.5	+	12	5496	c.5329G>A	c.(5329-5331)Ggg>Agg	p.G1777R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1777	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACTTGGCAGGTACGAGGGT	0.537																																						uc002ble.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e12+1		Homo sapiens alpha-kinase 3 (ALPK3), mRNA.							113	88	96					15																	85407896		2203	4298	6501	SO:0001630	splice_region_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407896G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5329+1G>A	15.37:g.85407896G>A						ALPK3_uc010upc.2_Splice_Site_p.G78_splice	p.G1777_splice	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5496	+			1777			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.5329_splice	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816344	0.90790	.	.	ENSG00000136383	ENST00000258888	T	0.45668	0.89	5.62	5.62	0.85841	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66312	-0.5955	10	0.87932	D	0	-29.0405	17.1691	0.86824	0.0:0.0:1.0:0.0	.	78;1777	B4DU37;Q96L96	.;ALPK3_HUMAN	R	1777	ENSP00000258888:G1777R	ENSP00000258888:G1777R	G	+	1	0	ALPK3	83208900	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.085000	0.94083	2.648000	0.89879	0.563000	0.77884	GGG		0.537	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Missense_Mutation	A	85407896	G	A	85407896	5	1	247	1	0	0	0	0	0	0	1	0	546	1014	35	3	5375	3	ALPK3	15	85407896	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	58279405	85407896	17123496	55	17573											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgccgctgggcctgggCgcggtgccaggacacctggc	4	5	19	13	3	0	0	0	0	0	0	0	2	0	2	4	6	2	1	4	6	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr16:67318812C>T	ENST00000360461.5	+	12	4424	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	630							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662																																						uc010cef.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1888-1890)gCg>gTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.							17	17	17					16																	67318812		2195	4294	6489	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318812C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1889C>T	16.37:g.67318812C>T	ENSP00000353646:p.Ala630Val					PLEKHG4_uc002eso.4_Missense_Mutation_p.A630V|PLEKHG4_uc002esp.4_Missense_Mutation_p.A437V|PLEKHG4_uc002esq.4_Missense_Mutation_p.A630V|PLEKHG4_uc002ess.4_Missense_Mutation_p.A630V|PLEKHG4_uc010ceg.3_Missense_Mutation_p.A549V	p.A630V	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	2188	+			630					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1889C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595481	0.28445	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09911	2.93;2.93;2.93;2.96	4.34	3.37	0.38596	.	.	.	.	.	T	0.14056	0.0340	L	0.32530	0.975	0.19300	N	0.999973	D;B	0.64830	0.994;0.079	P;B	0.53760	0.734;0.004	T	0.14896	-1.0456	9	0.22109	T	0.4	.	11.2184	0.48840	0.0:0.9058:0.0:0.0942	.	549;630	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	V	630;630;630;549	ENSP00000353646:A630V;ENSP00000401118:A630V;ENSP00000368649:A630V;ENSP00000398030:A549V	ENSP00000353646:A630V	A	+	2	0	PLEKHG4	65876313	0.180000	0.23148	0.590000	0.28732	0.427000	0.31564	1.285000	0.33261	1.965000	0.57142	0.591000	0.81541	GCG		0.662	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		T	67318812	C	T	67318812	3	4	247	1	0	0	0	0	1	0	0	0	12071	768	27	1	1935	1	PLEKHG4	16	67318812	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		67318812	23035941	56	17574											
CCDC42	146849	broad.mit.edu	37	chr17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctggatgtgcgcccagCgagattcctggagagtggat	7	11	15	8	2	1	2	0	0	1	2	2	6	2	4	2	3	2	1	2	3	0	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:8638565C>T	ENST00000293845.3	-	6	948	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_ENST00000539522.2_Missense_Mutation_p.R167H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562																																						uc002gln.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(721-723)cGc>cAc		Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.							116	94	101					17																	8638565		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638565C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.722G>A	17.37:g.8638565C>T	ENSP00000293845:p.Arg241His					CCDC42_uc002glo.3_Missense_Mutation_p.R167H	p.R241H	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			5	949	-			241					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.722G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267726	0.59540	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24151	1.89;1.87	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000022	T	0.24122	0.0584	L	0.53249	1.67	0.32818	D	0.502331	D	0.54047	0.964	B	0.35607	0.206	T	0.43410	-0.9393	10	0.44086	T	0.13	-16.8373	17.3291	0.87258	0.0:1.0:0.0:0.0	.	241	Q96M95	CCD42_HUMAN	H	241;167	ENSP00000293845:R241H;ENSP00000444359:R167H	ENSP00000293845:R241H	R	-	2	0	CCDC42	8579290	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	0.970000	0.29383	2.633000	0.89246	0.563000	0.77884	CGC		0.562	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		T	8638565	C	T	8638565	3	4	247	1	0	0	0	0	1	0	0	0	2814	768	27	1	236	1	CCDC42	17	8638565	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		8638565	72556645	57	17575											
CDC27	996	broad.mit.edu	37	chr17	45247352	45247352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagtaacaatatcatcaTggcttttctgcttattaaac	13	15	4	9	0	4	0	3	0	1	0	4	0	4	0	0	1	3	3	0	1	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:45247352T>C	ENST00000066544.3	-	4	401	c.308A>G	c.(307-309)cAt>cGt	p.H103R	CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.H103R|CDC27_ENST00000527547.1_Missense_Mutation_p.H103R|CDC27_ENST00000446365.2_Missense_Mutation_p.H42R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATATCATCATGGCTTTTCTG	0.308																																						uc002ile.4																			0		p.S102S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(307-309)cAt>cGt		Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.							107	114	112					17																	45247352		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247352T>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.308A>G	17.37:g.45247352T>C	ENSP00000066544:p.His103Arg					CDC27_uc002ild.4_Missense_Mutation_p.H103R|CDC27_uc002ilf.4_Missense_Mutation_p.H103R|CDC27_uc010wkp.2_Missense_Mutation_p.H42R|CDC27_uc010wkq.1_Non-coding_Transcript	p.H103R	NM_001114091	NP_001107563	P30260	CDC27_HUMAN			3	435	-			103					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.308A>G	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.69|15.69	2.908816|2.908816	0.52439|0.52439	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866|ENST00000533415	T;T;T;T;T|.	0.69306|.	-0.39;-0.38;0.08;-0.39;0.75|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Tetratricopeptide-like helical (1);|.	0.231590|.	0.46145|.	D|.	0.000313|.	T|T	0.41926|0.41926	0.1180|0.1180	N|N	0.08118|0.08118	0|0	0.44188|0.44188	D|D	0.997004|0.997004	B;B;B;B|.	0.15141|.	0.006;0.005;0.012;0.003|.	B;B;B;B|.	0.08055|.	0.001;0.002;0.003;0.001|.	T|T	0.49698|0.49698	-0.8912|-0.8912	10|6	0.25751|0.52906	T|T	0.34|0.07	-28.4436|-28.4436	13.5832|13.5832	0.61915|0.61915	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	42;103;103;103|.	B4DL80;G5EA36;G3V1C4;P30260|.	.;.;.;CDC27_HUMAN|.	R|V	103;103;42;103;103|54	ENSP00000066544:H103R;ENSP00000434614:H103R;ENSP00000392802:H42R;ENSP00000437339:H103R;ENSP00000432105:H103R|.	ENSP00000066544:H103R|ENSP00000432211:M54V	H|M	-|-	2|1	0|0	CDC27|CDC27	42602351|42602351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.905000|7.905000	0.87416|0.87416	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45247352	T	C	45247352	3	2	247	1	0	0	0	0	1	0	0	0	3066	1464	51	4	2248	4	CDC27	17	45247352	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	36608787	45247352	35947858	58	17576											
ESCO1	114799	broad.mit.edu	37	chr18	19154087	19154087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcagaagttacaggcaCaggtttcgtttcgtctcttc	8	13	8	12	2	2	1	1	0	1	1	6	1	2	1	1	2	1	4	1	2	2	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:19154087C>T	ENST00000269214.5	-	4	1655	c.718G>A	c.(718-720)Gtg>Atg	p.V240M		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	240					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GTTACAGGCACAGGTTTCGTT	0.418																																						uc002kth.1																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(718-720)Gtg>Atg		Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.							222	215	217					18																	19154087		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154087C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.718G>A	18.37:g.19154087C>T	ENSP00000269214:p.Val240Met					ESCO1_uc002kti.1_Non-coding_Transcript	p.V240M	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			3	1652	-			240					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.718G>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851297	0.32699	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.62788	0.0;1.53	5.38	4.5	0.54988	.	0.232490	0.29932	N	0.010823	T	0.60932	0.2307	L	0.50333	1.59	0.31709	N	0.639704	P	0.41313	0.745	B	0.43916	0.436	T	0.66052	-0.6019	10	0.31617	T	0.26	-5.1413	14.4721	0.67523	0.0:0.8532:0.1468:0.0	.	240	Q5FWF5	ESCO1_HUMAN	M	240	ENSP00000269214:V240M;ENSP00000372763:V240M	ENSP00000269214:V240M	V	-	1	0	ESCO1	17408085	0.977000	0.34250	0.998000	0.56505	0.640000	0.38277	1.777000	0.38604	1.273000	0.44346	0.655000	0.94253	GTG		0.418	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		T	19154087	C	T	19154087	3	4	247	1	0	0	0	0	1	0	0	0	5248	478	17	3	1840	3	ESCO1	18	19154087	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		19154087	58923161	59	17577											
NETO1	81832	broad.mit.edu	37	chr18	70450913	70450913	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgcagagaatcttacGttcttgaaaggatgtgaaga	14	11	11	5	1	3	4	1	2	2	2	3	6	3	5	0	1	2	2	0	1	5	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:70450913G>A	ENST00000327305.6	-	7	1525	c.868C>T	c.(868-870)Cct>Tct	p.P290S	NETO1_ENST00000299430.2_Splice_Site_p.P289S|NETO1_ENST00000583169.1_Splice_Site_p.P290S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	290					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATCTTACGTTCTTGAAAG	0.458																																						uc002lkw.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.e7+1		Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.							121	109	113					18																	70450913		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70450913G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.868+1C>T	18.37:g.70450913G>A						NETO1_uc002lky.2_Splice_Site_p.P290_splice	p.P290_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1152	-		Esophageal squamous(42;0.129)	290					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.868_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926915	0.92319	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21734	2.0;1.99	5.54	5.54	0.83059	CUB (1);	0.000000	0.56097	D	0.000030	T	0.44477	0.1295	L	0.55481	1.735	0.80722	D	1	D;P	0.89917	1.0;0.91	D;P	0.87578	0.998;0.464	T	0.06356	-1.0831	9	.	.	.	-14.4007	19.8487	0.96730	0.0:0.0:1.0:0.0	.	289;290	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	S	290;289	ENSP00000313088:P290S;ENSP00000299430:P289S	.	P	-	1	0	NETO1	68601893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	CCT		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Missense_Mutation	A	70450913	G	A	70450913	5	1	247	1	0	0	0	0	0	0	1	0	10339	1159	40	1	749	1	NETO1	18	70450913	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	51296826	70450913	7626335	60	17578											
MUC16	94025	broad.mit.edu	37	chr19	9088222	9088222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttggtgtcaaggaagtcGtggaaggtaagttgggcatg	10	11	16	4	1	1	0	1	0	0	0	2	2	1	2	0	5	1	3	0	5	5	4	rs145987902	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:9088222G>A	ENST00000397910.4	-	1	3796	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1198	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGAAGTCGTGGAAGGTAA	0.473													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		23336	0		0	False		,,,				2504	0					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3592-3594)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		G	MET/THR	4,4228		0,4,2112	186	181	182		3593	-1.4	0	19	dbSNP_134	182	0,8456		0,0,4228	no	missense	MUC16	NM_024690.2	81	0,4,6340	AA,AG,GG		0.0,0.0945,0.0315	benign	1198/14508	9088222	4,12684	2116	4228	6344	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088222G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3593C>T	19.37:g.9088222G>A	ENSP00000381008:p.Thr1198Met						p.T1198M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	3797	-			1198			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3593C>T	CCDS54212.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	0.028	-1.357287	0.01245	9.45E-4	0.0	ENSG00000181143	ENST00000397910	T	0.02579	4.24	0.712	-1.42	0.08913	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.47611	-0.9104	7	0.87932	D	0	.	.	.	.	.	1198	B5ME49	.	M	1198	ENSP00000381008:T1198M	ENSP00000381008:T1198M	T	-	2	0	MUC16	8949222	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	-1.516000	0.02250	-1.493000	0.01835	-0.979000	0.02580	ACG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9088222	G	A	9088222	3	1	247	1	0	0	0	0	1	0	0	0	9973	1145	40	1	40266	1	MUC16	19	9088222	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		9088222	50040761	61	17579											
CPAMD8	27151	broad.mit.edu	37	chr19	17039895	17039895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgatgcccccccaggaCgatctcgatcatgcctgctg	6	10	10	15	2	3	1	1	1	2	0	4	4	3	2	4	1	3	2	4	1	0	1	rs374273186		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:17039895C>T	ENST00000443236.1	-	24	3173	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1001						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1048I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCCAGGACGATCTCGATC	0.607																																						uc002nfb.3																			1	Substitution - Missense(1)	p.V1048I(2)	large_intestine(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3142-3144)Gtc>Atc		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.		C	ILE/VAL	0,4038		0,0,2019	45	47	46		3142	2.5	0	19		46	1,8371		0,1,4185	no	missense	CPAMD8	NM_015692.2	29	0,1,6204	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging	1048/1933	17039895	1,12409	2019	4186	6205	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039895C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3142G>A	19.37:g.17039895C>T	ENSP00000402505:p.Val1048Ile						p.V1048I	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			23	3174	-			1001					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.3142G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512271	0.44660	0.0	1.19E-4	ENSG00000160111	ENST00000291440	.	.	.	3.51	2.46	0.29980	Farnesoic acid O-methyl transferase (1);	0.000000	0.53938	U	0.000054	T	0.63733	0.2536	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56715	-0.7933	9	0.23302	T	0.38	.	10.3797	0.44104	0.0:0.9014:0.0:0.0986	.	1001	Q8IZJ3	CPMD8_HUMAN	I	1048	.	ENSP00000291440:V1048I	V	-	1	0	CPAMD8	16900895	1.000000	0.71417	0.041000	0.18516	0.044000	0.14063	6.445000	0.73456	0.476000	0.27440	0.655000	0.94253	GTC		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17039895	C	T	17039895	3	4	247	1	0	0	0	0	1	0	0	0	3795	536	19	1	2732	1	CPAMD8	19	17039895	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	7951673	17039895	42089088	62	17580											
ZNF181	339318	broad.mit.edu	37	chr19	35232834	35232839	+	In_Frame_Del	DEL	ATATAA	ATATAA	-																															attcacactggagaaaagccAtataaatgtaatgagtgtgg																										TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:35232834_35232839delATATAA	ENST00000492450.1	+	4	1637_1642	c.1548_1553delATATAA	c.(1546-1554)ccatataaa>cca	p.YK517del	ZNF181_ENST00000459757.2_In_Frame_Del_p.YK516del|ZNF181_ENST00000392232.3_In_Frame_Del_p.YK561del			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAGAAAAGCCATATAAATGTAATGAG	0.388																																						uc002nvu.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1546-1554)ccatataaa>cca		Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232834_35232839delATATAA	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1548_1553delATATAA	19.37:g.35232834_35232839delATATAA	ENSP00000420727:p.Tyr517_Lys518del					ZNF181_uc010xsb.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsc.1_In_Frame_Del_p.YK452del	p.YK517del	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		3	2011_2016	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		517					B7ZKX3|Q49A75	In_Frame_Del	DEL	ENST00000492450.1	37	c.1548_1553delATATAA	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		-	35232839	ATATAA	-	35232834	7	5	247	1	0	1	0	1	0	0	0	0	17746	204	8	0	1562	0	ZNF181	19	35232834	In_Frame_Del	DEL	ATATAA	TCGA-41-3393-01A-01D-1353-08	18192939	35232834	23896149	63	17581											
UPK1A	11045	broad.mit.edu	37	chr19	36159540	36159540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcactctgccgccgccGgtccatggtcctcacggtga	4	8	12	17	5	2	1	1	1	1	0	4	1	4	1	6	3	2	1	6	3	0	0	rs111275297		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:36159540G>A	ENST00000222275.2	+	2	269	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.R90Q	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	90					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGCCGCCGGTCCATGGTC	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		10379	0		0	False		,,,				2504	0					uc010eeh.3																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(268-270)cGg>cAg		Homo sapiens uroplakin 1A (UPK1A), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	50	39	42		269	5.3	1	19	dbSNP_132	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	UPK1A	NM_007000.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	90/259	36159540	2,13004	2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36159540G>A	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.269G>A	19.37:g.36159540G>A	ENSP00000222275:p.Arg90Gln					UPK1A_uc002oaw.3_Missense_Mutation_p.R90Q|BC007817_uc002oax.1_Missense_Mutation_p.R3W	p.R90Q			O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	269	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		90					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.269G>A	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468457	0.84533	2.27E-4	1.16E-4	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.79554	-1.28;-1.28	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	D	0.88235	0.6382	M	0.63843	1.955	0.46874	D	0.999232	D;D	0.71674	0.998;0.998	D;D	0.79108	0.986;0.992	D	0.88768	0.3262	10	0.66056	D	0.02	0.932	16.8749	0.86050	0.0:0.0:1.0:0.0	.	90;90	O00322-2;O00322	.;UPK1A_HUMAN	Q	90	ENSP00000222275:R90Q;ENSP00000368298:R90Q	ENSP00000222275:R90Q	R	+	2	0	UPK1A	40851380	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.641000	0.54360	2.659000	0.90383	0.561000	0.74099	CGG		0.592	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			A	36159540	G	A	36159540	3	1	247	1	0	0	0	0	1	0	0	0	17004	1116	39	2	275	2	UPK1A	19	36159540	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	926706	36159540	22969443	64	17582											
GPR77	27202	broad.mit.edu	37	chr19	47844750	47844750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcagcccgacgctgcCggccgctgggcacagccatt	5	5	15	16	4	0	0	0	0	0	0	0	1	0	0	4	3	3	5	4	3	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:47844750C>T	ENST00000595464.1	+	2	912	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	C5AR2_ENST00000600626.1_Missense_Mutation_p.R232W|C5AR2_ENST00000257267.2_Missense_Mutation_p.R232W	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	232					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CCGACGCTGCCGGCCGCTGGG	0.672																																						uc002pgk.1																			0		p.R232R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(694-696)Cgg>Tgg		Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.																																				SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844750C>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.694C>T	19.37:g.47844750C>T	ENSP00000472620:p.Arg232Trp					GPR77_uc010ela.1_Missense_Mutation_p.R232W|GPR77_uc021uwn.1_Missense_Mutation_p.R232W	p.R232W	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	1	765	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	232					B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.694C>T	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	T	9.305	1.054007	0.19907	.	.	ENSG00000134830	ENST00000257267	T	0.37235	1.21	4.11	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.322570	0.24764	N	0.035791	T	0.13372	0.0324	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12837	-1.0532	10	0.35671	T	0.21	.	2.4868	0.04601	0.303:0.2493:0.0:0.4477	.	232	Q9P296	C5ARL_HUMAN	W	232	ENSP00000257267:R232W	ENSP00000257267:R232W	R	+	1	2	GPR77	52536590	0.000000	0.05858	0.084000	0.20598	0.013000	0.08279	-0.238000	0.08977	0.240000	0.21263	-0.817000	0.03123	CGG		0.672	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		T	47844750	C	T	47844750	3	4	247	1	0	0	0	0	1	0	0	0	6709	643	23	2	696	2	GPR77	19	47844750	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	11685210	47844750	11284233	65	17583											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519291	48519291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggaaattctgtgaaaCgaatggtgagcccctgtagc	11	9	13	8	1	1	2	0	2	1	0	1	4	1	3	2	2	3	2	2	2	4	2	rs145971035	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:48519291C>T	ENST00000339841.2	+	4	528	c.350C>T	c.(349-351)aCg>aTg	p.T117M	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	117	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TTCTGTGAAACGAATGGTGAG	0.552																																						uc002pht.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(349-351)aCg>aTg		Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	125	106	113		350	-4.2	0	19	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ELSPBP1	NM_022142.4	81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	117/224	48519291	3,13003	2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48519291C>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.350C>T	19.37:g.48519291C>T	ENSP00000340660:p.Thr117Met						p.T117M	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	3	528	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	117			Fibronectin type-II 2.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.350C>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087025	0.07097	4.54E-4	1.16E-4	ENSG00000169393	ENST00000339841	T	0.09911	2.93	2.89	-4.15	0.03881	Fibronectin, type II, collagen-binding (2);Kringle-like fold (2);	2.656580	0.01613	N	0.022600	T	0.12732	0.0309	M	0.70595	2.14	0.09310	N	1	B	0.22746	0.074	B	0.15052	0.012	T	0.31916	-0.9926	10	0.49607	T	0.09	.	4.0947	0.09985	0.1813:0.2469:0.0:0.5718	.	117	Q96BH3	ESPB1_HUMAN	M	117	ENSP00000340660:T117M	ENSP00000340660:T117M	T	+	2	0	ELSPBP1	53211103	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-1.809000	0.01731	-0.914000	0.03827	0.543000	0.68304	ACG		0.552	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			T	48519291	C	T	48519291	3	4	247	1	0	0	0	0	1	0	0	0	5083	536	19	1	360	1	ELSPBP1	19	48519291	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	674541	48519291	10609692	66	17584											
DKKL1	27120	broad.mit.edu	37	chr19	49867863	49867863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcccccgcaaggcGgcatctgctggtcctgctgc	4	7	11	19	2	1	0	0	0	1	0	2	0	2	0	5	3	4	4	5	3	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:49867863G>A	ENST00000221498.2	+	2	440	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TEAD2_ENST00000593945.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000539846.1_5'Flank|DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000601519.1_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	12					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CCCGCAAGGCGGCATCTGCTG	0.672																																						uc002pnk.3																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(34-36)cGg>cAg		Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.							42	36	38					19																	49867863		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867863G>A	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.35G>A	19.37:g.49867863G>A	ENSP00000221498:p.Arg12Gln					TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Missense_Mutation_p.R12Q	p.R12Q	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	1	249	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	12						Missense_Mutation	SNP	ENST00000221498.2	37	c.35G>A	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177026	0.21787	.	.	ENSG00000104901	ENST00000221498	T	0.15487	2.42	3.25	-0.379	0.12493	.	3.146000	0.01122	N	0.005809	T	0.09202	0.0227	N	0.22421	0.69	0.09310	N	1	P	0.37708	0.606	B	0.26202	0.067	T	0.18618	-1.0331	10	0.25106	T	0.35	2.7938	3.9789	0.09486	0.1234:0.0:0.4452:0.4314	.	12	Q9UK85	DKKL1_HUMAN	Q	12	ENSP00000221498:R12Q	ENSP00000221498:R12Q	R	+	2	0	DKKL1	54559675	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	2.633000	0.46519	0.025000	0.15241	-0.224000	0.12420	CGG		0.672	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		A	49867863	G	A	49867863	3	1	247	1	0	0	0	0	1	0	0	0	4548	1116	39	2	41	2	DKKL1	19	49867863	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	1348572	49867863	9261120	67	17585											
C19orf75	284369	broad.mit.edu	37	chr19	51768774	51768774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcctccaagtgactTccaccatgcttggcccctgg	7	9	10	15	0	0	1	0	1	0	0	2	1	2	1	6	3	2	2	6	3	1	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:51768774T>A	ENST00000316401.7	+	3	556	c.175T>A	c.(175-177)Tcc>Acc	p.S59T	SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	417	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CCAAGTGACTTCCACCATGCT	0.567																																						uc002pwb.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						c.(175-177)Tcc>Acc		Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.							64	57	60					19																	51768774		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51768774T>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.175T>A	19.37:g.51768774T>A	ENSP00000321249:p.Ser59Thr					C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	p.S59T	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			2	556	+			59					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.175T>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	T	9.990	1.230626	0.22542	.	.	ENSG00000179213	ENST00000316401	T	0.42513	0.97	3.81	2.79	0.32731	Immunoglobulin-like fold (1);	0.211814	0.24117	N	0.041382	T	0.36193	0.0958	M	0.73217	2.22	0.09310	N	1	P	0.46784	0.884	B	0.39531	0.302	T	0.26710	-1.0095	10	0.38643	T	0.18	-6.7334	5.7902	0.18357	0.0:0.1245:0.0:0.8755	.	59	Q8N7X8	CS075_HUMAN	T	59	ENSP00000321249:S59T	ENSP00000321249:S59T	S	+	1	0	C19orf75	56460586	0.038000	0.19896	0.009000	0.14445	0.010000	0.07245	1.854000	0.39368	0.626000	0.30322	0.528000	0.53228	TCC		0.567	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		A	51768774	T	A	51768774	3	1	247	1	0	0	0	0	1	0	0	0	1949	1783	62	5	181	5	C19orf75	19	51768774	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	1900911	51768774	7360209	68	17586											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674185	3674185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtggcatccctgactgtGacgttgggcagggggatgga	7	8	19	7	1	0	2	0	2	0	0	1	5	1	4	1	6	0	3	1	6	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:3674185G>A	ENST00000344754.4	-	13	3416	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	SIGLEC1_ENST00000202578.4_Silent_p.V1139V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1139	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTGACTGTGACGTTGGGCA	0.657																																						uc002wja.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3415-3417)gtC>gtT		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							58	48	52					20																	3674185		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674185G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3417C>T	20.37:g.3674185G>A						SIGLEC1_uc002wiz.4_Silent_p.V1139V|SIGLEC1_uc002wjb.1_5'Flank	p.V1139V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			12	3417	-			1139			Ig-like C2-type 11.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3417C>T	CCDS13060.1																																																																																				0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		A	3674185	G	A	3674185	2	1	247	1	0	0	0	0	0	0	0	1	14305	1277	45	3		3	SIGLEC1	20	3674185	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		3674185	59351335	69	17587											
SRC	6714	broad.mit.edu	37	chr20	36026230	36026230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggtcaagctgggcCagggctgctttggcgaggtg	5	8	20	8	1	1	0	1	0	0	0	1	2	1	1	1	7	2	4	1	7	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:36026230C>G	ENST00000373578.2	+	9	1181	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	SRC_ENST00000360723.4_Missense_Mutation_p.Q284E|SRC_ENST00000358208.4_Missense_Mutation_p.Q278E|SRC_ENST00000373567.2_Missense_Mutation_p.Q278E|SRC_ENST00000373558.2_Missense_Mutation_p.Q284E|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.Q278E	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CAAGCTGGGCCAGGGCTGCTT	0.697																																						uc002xgx.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(832-834)Cag>Gag		Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	Dasatinib(DB01254)						36	41	39					20																	36026230		2202	4300	6502	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36026230C>G	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.832C>G	20.37:g.36026230C>G	ENSP00000362680:p.Gln278Glu					SRC_uc002xgy.3_Missense_Mutation_p.Q278E	p.Q278E	NM_005417	NP_938033	P12931	SRC_HUMAN			8	1281	+		Myeloproliferative disorder(115;0.00878)	278			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.832C>G	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005086	0.54254	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.36	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	N	0.03294	-0.36	0.80722	D	1	P	0.50369	0.934	D	0.65010	0.931	T	0.82333	-0.0509	10	0.59425	D	0.04	.	14.4043	0.67071	0.0:1.0:0.0:0.0	.	278	P12931	SRC_HUMAN	E	278;278;284;278;278;284	ENSP00000408503:Q278E;ENSP00000362680:Q278E;ENSP00000353950:Q284E;ENSP00000350941:Q278E;ENSP00000362668:Q278E;ENSP00000362659:Q284E	ENSP00000350941:Q278E	Q	+	1	0	SRC	35459644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.231000	0.72958	0.462000	0.41574	CAG		0.697	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		G	36026230	C	G	36026230	3	3	247	1	0	0	0	0	1	0	0	0	15133	595	21	5	854	5	SRC	20	36026230	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	32352045	36026230	26999290	70	17588											
PTPRT	11122	broad.mit.edu	37	chr20	40713368	40713368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgtcatactgctcctGccacttctccagtcgtcgga	5	11	7	18	3	2	0	1	0	1	0	7	1	4	1	5	1	3	1	5	1	1	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:40713368G>T	ENST00000373187.1	-	29	4089	c.4090C>A	c.(4090-4092)Cag>Aag	p.Q1364K	PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1374K|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1363K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1367K|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1373K|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1354K|PTPRT_ENST00000373198.4_Missense_Mutation_p.Q1383K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1364	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGCTCCTGCCACTTCTCC	0.597																																						uc002xkg.3																			0		p.A1364A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(4090-4092)Cag>Aag		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							45	54	51					20																	40713368		2044	4176	6220	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713368G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4090C>A	20.37:g.40713368G>T	ENSP00000362283:p.Gln1364Lys					PTPRT_uc010ggj.3_Missense_Mutation_p.Q1383K|PTPRT_uc010ggi.3_Missense_Mutation_p.Q567K	p.Q1364K	NM_007050	NP_008981	O14522	PTPRT_HUMAN			28	4274	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1364			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4090C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101775	0.56183	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.132994	0.52532	D	0.000067	D	0.83179	0.5198	M	0.64676	1.99	0.80722	D	1	B;B	0.24651	0.108;0.063	B;B	0.25759	0.061;0.063	T	0.80284	-0.1447	10	0.72032	D	0.01	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	1386;1364	O14522-1;O14522	.;PTPRT_HUMAN	K	1363;1364;1367;1373;1386;1374;1354	ENSP00000362286:Q1363K;ENSP00000362283:Q1364K;ENSP00000362289:Q1367K;ENSP00000348408:Q1373K;ENSP00000362294:Q1386K;ENSP00000362280:Q1374K;ENSP00000362297:Q1354K	ENSP00000348408:Q1373K	Q	-	1	0	PTPRT	40146782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.584000	0.98220	2.894000	0.99253	0.655000	0.94253	CAG		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	40713368	G	T	40713368	3	4	247	1	0	0	0	0	1	0	0	0	12812	1328	46	5	247	5	PTPRT	20	40713368	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	4687138	40713368	22312152	71	17589											
DIDO1	11083	broad.mit.edu	37	chr20	61511189	61511189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcccggcctcctcccagCggtccttccggtgctgcggg	1	7	15	18	5	0	0	0	0	0	0	4	0	4	0	6	5	3	1	6	5	0	1	rs143474883		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:61511189C>T	ENST00000266070.4	-	16	6444	c.6119G>A	c.(6118-6120)cGc>cAc	p.R2040H	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2040H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2040					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCCAGCGGTCCTTCCG	0.741																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6118-6120)cGc>cAc		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.		C	HIS/ARG,HIS/ARG	0,3926		0,0,1963	27	34	32		6119,6119	4	0.6	20	dbSNP_134	32	1,7757		0,1,3878	no	missense,missense	DIDO1	NM_001193369.1,NM_033081.2	29,29	0,1,5841	TT,TC,CC		0.0129,0.0,0.0086	probably-damaging,probably-damaging	2040/2241,2040/2241	61511189	1,11683	1963	3879	5842	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511189C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6119G>A	20.37:g.61511189C>T	ENSP00000266070:p.Arg2040His					DIDO1_uc002yds.2_Missense_Mutation_p.R2040H	p.R2040H	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN			15	6431	-	Breast(26;5.68e-08)		2040					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6119G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591756	0.46214	0.0	1.29E-4	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08546	3.08;3.08	4.96	4.01	0.46588	.	0.000000	0.40144	N	0.001165	T	0.07863	0.0197	L	0.54323	1.7	0.18873	N	0.999985	P	0.49783	0.928	B	0.42188	0.379	T	0.31280	-0.9949	10	0.37606	T	0.19	-13.3846	2.3097	0.04183	0.1771:0.5162:0.1488:0.1579	.	2040	Q9BTC0	DIDO1_HUMAN	H	2040	ENSP00000266070:R2040H;ENSP00000378752:R2040H	ENSP00000266070:R2040H	R	-	2	0	DIDO1	60981634	0.090000	0.21635	0.626000	0.29213	0.685000	0.39939	1.324000	0.33712	1.066000	0.40716	0.561000	0.74099	CGC		0.741	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61511189	C	T	61511189	3	4	247	1	0	0	0	0	1	0	0	0	4522	768	27	1	607	1	DIDO1	20	61511189	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	20797821	61511189	1514331	72	17590											
PRAME	23532	broad.mit.edu	37	chr22	22891015	22891015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcatcacatccccttccGaaagccggcagttagttatt	10	11	8	12	2	1	0	1	0	0	0	3	2	3	0	4	1	2	4	4	1	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:22891015G>A	ENST00000398741.1	-	6	1310	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	PRAME_ENST00000405655.3_Missense_Mutation_p.S335L|PRAME_ENST00000539862.1_Missense_Mutation_p.S319L|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000398743.2_Missense_Mutation_p.S335L|PRAME_ENST00000543184.1_Missense_Mutation_p.S335L|PRAME_ENST00000424204.2_Missense_Mutation_p.S319L|PRAME_ENST00000402697.1_Missense_Mutation_p.S335L	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	335					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCCCCTTCCGAAAGCCGGCA	0.542																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1003-1005)tCg>tTg		Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.							128	124	126					22																	22891015		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22891015G>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1004C>T	22.37:g.22891015G>A	ENSP00000381726:p.Ser335Leu					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S319L|PRAME_uc010gtr.3_Missense_Mutation_p.S335L|PRAME_uc002zwg.3_Missense_Mutation_p.S335L|PRAME_uc002zwh.3_Missense_Mutation_p.S335L|PRAME_uc002zwi.3_Missense_Mutation_p.S335L|PRAME_uc002zwj.3_Missense_Mutation_p.S335L|PRAME_uc002zwk.3_Missense_Mutation_p.S335L	p.S335L	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1160	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	335					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.1004C>T	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	G	3.791	-0.043580	0.07452	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71	3.89	0.326	0.15908	.	0.702598	0.13278	N	0.399948	T	0.10766	0.0263	L	0.52011	1.625	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37079	-0.9721	10	0.19590	T	0.45	.	6.2728	0.20963	0.5714:0.0:0.4286:0.0	.	335	P78395	PRAME_HUMAN	L	335;335;335;335;319;335;319	ENSP00000381728:S335L;ENSP00000445675:S335L;ENSP00000381726:S335L;ENSP00000384343:S335L;ENSP00000445097:S319L;ENSP00000385198:S335L;ENSP00000407342:S319L	ENSP00000381726:S335L	S	-	2	0	PRAME	21221015	0.002000	0.14202	0.019000	0.16419	0.007000	0.05969	-0.134000	0.10436	0.118000	0.18165	0.655000	0.94253	TCG		0.542	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		A	22891015	G	A	22891015	3	1	247	1	0	0	0	0	1	0	0	0	12424	1059	37	2	529	2	PRAME	22	22891015	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		22891015	28413551	73	17591											
ELFN2	114794	broad.mit.edu	37	chr22	37769438	37769438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctcgtagtacagggcggGaaagctgtgccggtgctcgc	6	8	15	12	4	0	0	0	0	0	0	3	1	1	1	2	3	4	4	2	3	3	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:37769438G>A	ENST00000402918.2	-	3	2922	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	713					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TACAGGGCGGGAAAGCTGTGC	0.711																																						uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2137-2139)Ccc>Tcc		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.							26	26	26					22																	37769438		2197	4297	6494	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769438G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2137C>T	22.37:g.37769438G>A	ENSP00000385277:p.Pro713Ser					ELFN2_uc021wph.1_Missense_Mutation_p.P713S	p.P713S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			2	2923	-	Melanoma(58;0.0574)		713					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.2137C>T	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878816	0.91740	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.77358	-1.09;-1.09	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88061	0.2794	10	0.87932	D	0	-36.2605	18.1427	0.89644	0.0:0.0:1.0:0.0	.	713	Q5R3F8	PPR29_HUMAN	S	713	ENSP00000300147:P713S;ENSP00000385277:P713S	ENSP00000300147:P713S	P	-	1	0	ELFN2	36099384	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.503000	0.97984	2.265000	0.75225	0.561000	0.74099	CCC		0.711	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		A	37769438	G	A	37769438	3	1	247	1	0	0	0	0	1	0	0	0	5058	1174	41	3	329	3	ELFN2	22	37769438	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	14878423	37769438	13535128	74	17592											
ENTHD1	150350	broad.mit.edu	37	chr22	40283672	40283672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagggaccccaagggtcGttagaagttgcttccctgac	9	9	12	11	1	0	3	0	1	0	2	2	4	1	4	3	2	1	3	3	2	4	4	rs146928757	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:40283672G>A	ENST00000325157.6	-	2	331	c.81C>T	c.(79-81)aaC>aaT	p.N27N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	27	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.N27N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCAAGGGTCGTTAGAAGTTG	0.398																																						uc003ayg.3																			1	Substitution - coding silent(1)	p.N27N(2)	ovary(1)	breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(79-81)aaC>aaT		Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.		G		0,4406		0,0,2203	98	98	98		81	2.4	1	22	dbSNP_134	98	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ENTHD1	NM_152512.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		27/608	40283672	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	150350							g.chr22:40283672G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.81C>T	22.37:g.40283672G>A							p.N27N	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			1	332	-	Melanoma(58;0.0749)		27			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	c.81C>T	CCDS13998.1																																																																																				0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40283672	G	A	40283672	2	1	247	1	0	0	0	0	0	0	0	1	5137	1136	40	1		1	ENTHD1	22	40283672	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	2514234	40283672	11020894	75	17593											
ARSA	410	broad.mit.edu	37	chr22	51063597	51063597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatggggatctgggcaatgGcagcaagctgggcggggggt	7	6	21	7	1	1	0	0	0	1	0	1	1	1	1	0	8	2	5	0	8	2	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:51063597G>A	ENST00000547307.1	-	8	1905	c.1500C>T	c.(1498-1500)tgC>tgT	p.C500C	ARSA_ENST00000453344.2_Silent_p.C416C|ARSA_ENST00000216124.5_Silent_p.C502C|ARSA_ENST00000395619.3_Silent_p.C502C|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000547805.1_Silent_p.C500C|ARSA_ENST00000356098.5_Silent_p.C502C|ARSA_ENST00000395621.3_Silent_p.C502C			P15289	ARSA_HUMAN	arylsulfatase A	500					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CTGGGCAATGGCAGCAAGCTG	0.701																																						uc003bna.4																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(1246-1248)tgC>tgT		Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	Micafungin(DB01141)						7	9	8					22																	51063597		2168	4253	6421	SO:0001819	synonymous_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063597G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1500C>T	22.37:g.51063597G>A						ARSA_uc021wsd.1_Silent_p.C502C|ARSA_uc021wse.1_Silent_p.C502C|ARSA_uc021wsf.1_Silent_p.C502C|ARSA_uc003bmz.4_Silent_p.C500C	p.C416C	NM_001085428	NP_001078897	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	1510	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	500					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37	c.1248C>T																																																																																					0.701	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		A	51063597	G	A	51063597	2	1	247	1	0	0	0	0	0	0	0	1	987	1195	42	3		3	ARSA	22	51063597	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	10779925	51063597	240969	76	17594											
IL3RA	3563	broad.mit.edu	37	chrX	1471117	1471117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacgacctgtacttgaaCgttgccaagtaggtgtgccc	9	10	11	11	2	0	1	0	1	0	0	0	2	0	1	3	1	5	4	3	1	5	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:1471117C>T	ENST00000331035.4	+	5	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	IL3RA_ENST00000381469.2_Silent_p.N63N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	141					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													c|||	9	0.00179712	0	0.0014	5008	,	,		15375	0		0.003	False		,,,				2504	0.0051					uc004cps.3																			0				lung(1)|skin(2)	3						c.(421-423)aaC>aaT		Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	Sargramostim(DB00020)	C		0,4406		0,0,2203	129	136	133		423	-3.8	0	X	dbSNP_134	133	14,8578		0,14,4282	no	coding-synonymous	IL3RA	NM_002183.2		0,14,6485	TT,TC,CC		0.1629,0.0,0.1077		141/379	1471117	14,12984	2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471117C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.423C>T	X.37:g.1471117C>T						CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.N63N	p.N141N	NM_002183	NP_002174	P26951	IL3RA_HUMAN			4	772	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	141					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.423C>T	CCDS14113.1																																																																																				0.647	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			T	1471117	C	T	1471117	2	4	247	1	0	0	0	0	0	0	0	1	7695	535	19	1		1	IL3RA	23	1471117	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08		1471117	153799443	77	17595											
ARSE	415	broad.mit.edu	37	chrX	2867414	2867414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcacatgggctgctccGtgatggtgtggtttctcatc	6	12	14	9	1	1	1	1	1	1	0	4	2	2	2	1	4	2	4	1	4	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:2867414G>A	ENST00000381134.3	-	6	851	c.785C>T	c.(784-786)aCg>aTg	p.T262M	ARSE_ENST00000540563.1_Missense_Mutation_p.T217M|ARSE_ENST00000545496.1_Missense_Mutation_p.T287M	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	262					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCTGCTCCGTGATGGTGTG	0.532																																						uc011mhh.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(859-861)aCg>aTg		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							93	74	80					X																	2867414		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867414G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.785C>T	X.37:g.2867414G>A	ENSP00000370526:p.Thr262Met					ARSE_uc011mhi.2_Missense_Mutation_p.T208M|ARSE_uc004crc.4_Missense_Mutation_p.T262M	p.T287M			P51690	ARSE_HUMAN			6	1321	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	262					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.860C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	5.501	0.277468	0.10403	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.98762	-5.12;-5.12;-5.12	3.54	1.7	0.24286	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.451388	0.24370	N	0.039110	D	0.98893	0.9625	M	0.90542	3.125	0.09310	N	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.66497	0.944;0.923;0.932	D	0.95798	0.8830	10	0.59425	D	0.04	.	8.0775	0.30724	0.2144:0.0:0.7856:0.0	.	217;287;262	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	M	217;287;262	ENSP00000438198:T217M;ENSP00000441417:T287M;ENSP00000370526:T262M	ENSP00000370526:T262M	T	-	2	0	ARSE	2877414	0.925000	0.31364	0.023000	0.16930	0.047000	0.14425	3.195000	0.51013	0.377000	0.24735	0.591000	0.81541	ACG		0.532	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		A	2867414	G	A	2867414	3	1	247	1	0	0	0	0	1	0	0	0	990	1145	40	1	1008	1	ARSE	23	2867414	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	1396297	2867414	152403146	78	17596											
GPR143	4935	broad.mit.edu	37	chrX	9693807	9693807	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cataggtctccatgggttggGagagcagggtcaccctcatt	8	10	13	10	0	3	1	2	0	1	1	4	2	3	1	2	4	1	2	2	4	1	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:9693807G>C	ENST00000467482.1	-	9	1340	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L	GPR143_ENST00000380929.2_Silent_p.L418L			P51810	GP143_HUMAN	G protein-coupled receptor 143	398					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CATGGGTTGGGAGAGCAGGGT	0.473																																						uc004cst.2																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1192-1194)ctC>ctG		Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.							177	133	148					X																	9693807		2203	4300	6503	SO:0001819	synonymous_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9693807G>C	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.1194C>G	X.37:g.9693807G>C							p.L398L	NM_000273	NP_000264	P51810	GP143_HUMAN			8	1342	-		Hepatocellular(5;0.000888)	398					Q6NTI7	Silent	SNP	ENST00000467482.1	37	c.1194C>G	CCDS14134.2																																																																																				0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		C	9693807	G	C	9693807	2	2	247	1	0	0	0	0	0	0	0	1	6651	1161	41	5		5	GPR143	23	9693807	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	6826393	9693807	145576753	79	17597											
FRMPD4	9758	broad.mit.edu	37	chrX	12735884	12735884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccagcaaccgacctccCgcccaaagttgtgccttcca	9	7	8	17	2	0	0	0	0	0	0	2	1	2	0	7	1	3	2	7	1	3	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:12735884C>T	ENST00000380682.1	+	16	3445	c.2939C>T	c.(2938-2940)cCg>cTg	p.P980L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	980					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACCGACCTCCCGCCCAAAGTT	0.572																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2938-2940)cCg>cTg		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							57	56	56					X																	12735884		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735884C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2939C>T	X.37:g.12735884C>T	ENSP00000370057:p.Pro980Leu					FRMPD4_uc011mij.2_Missense_Mutation_p.P972L	p.P980L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	3445	+			980					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2939C>T	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529761	0.27387	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05513	3.43	5.47	3.47	0.39725	.	0.114521	0.64402	D	0.000012	T	0.04588	0.0125	L	0.44542	1.39	0.40078	D	0.976103	P;P	0.49862	0.875;0.929	B;B	0.27500	0.08;0.08	T	0.48514	-0.9029	10	0.44086	T	0.13	-13.0012	11.2765	0.49170	0.652:0.348:0.0:0.0	.	972;980	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	L	980;971;969	ENSP00000370057:P980L	ENSP00000304583:P969L	P	+	2	0	FRMPD4	12645805	0.997000	0.39634	0.180000	0.23079	0.864000	0.49448	4.895000	0.63214	1.047000	0.40274	0.513000	0.50165	CCG		0.572	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12735884	C	T	12735884	3	4	247	1	0	0	0	0	1	0	0	0	6059	652	23	2	3001	2	FRMPD4	23	12735884	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	3042077	12735884	142534676	80	17598											
FTSJ1	24140	broad.mit.edu	37	chrX	48337447	48337447	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccactgccaaggagatcAtccagcactttaagggctgc	10	9	10	12	0	1	1	1	0	0	1	3	2	3	1	3	2	3	2	3	2	2	2	rs75296308	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48337447A>T	ENST00000348411.2	+	5	627	c.304A>T	c.(304-306)Atc>Ttc	p.I102F	FTSJ1_ENST00000019019.2_Missense_Mutation_p.I102F|FTSJ1_ENST00000456787.1_Missense_Mutation_p.I102F|FTSJ1_ENST00000396894.4_5'UTR|FTSJ1_ENST00000496365.1_3'UTR	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CAAGGAGATCATCCAGCACTT	0.632													A|||	9	0.00238411	0.0068	0	3775	,	,		13989	0		0	False		,,,				2504	0					uc004djo.1																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(304-306)Atc>Ttc		Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.			PHE/ILE,PHE/ILE,PHE/ILE	17,3818		0,15,2,1617,569	116	102	107		304,304,304	4.7	1	X	dbSNP_131	107	0,6728		0,0,0,2428,1872	yes	missense,missense,missense	FTSJ1	NM_012280.2,NM_177434.1,NM_177439.1	21,21,21	0,15,2,4045,2441	TT,TA,T,AA,A		0.0,0.4433,0.1609	possibly-damaging,possibly-damaging,possibly-damaging	102/330,102/328,102/328	48337447	17,10546	2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48337447A>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.304A>T	X.37:g.48337447A>T	ENSP00000326948:p.Ile102Phe					FTSJ1_uc004djn.1_Missense_Mutation_p.I102F|FTSJ1_uc011mlw.1_5'UTR	p.I102F	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			4	627	+			102						Missense_Mutation	SNP	ENST00000348411.2	37	c.304A>T	CCDS14294.1	7	0.004219409282700422	4	0.00823045267489712	0	0.0	0	0.0	0	0.0	a	18.55	3.647955	0.67358	0.004433	0.0	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.29655	1.56;1.56;1.56	4.7	4.7	0.59300	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	M	0.71920	2.185	0.80722	D	1	D;B;B	0.62365	0.991;0.038;0.367	D;B;B	0.67103	0.949;0.094;0.314	T	0.50110	-0.8866	10	0.87932	D	0	-0.1672	9.6247	0.39743	1.0:0.0:0.0:0.0	.	102;102;102	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	102	ENSP00000019019:I102F;ENSP00000326948:I102F;ENSP00000415457:I102F	ENSP00000019019:I102F	I	+	1	0	FTSJ1	48222391	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.880000	0.56145	1.876000	0.54355	0.385000	0.25706	ATC		0.632	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			T	48337447	A	T	48337447	3	4	247	1	0	0	0	0	1	0	0	0	6087	217	8	5	318	5	FTSJ1	23	48337447	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	35601563	48337447	106933113	81	17599											
PORCN	64840	broad.mit.edu	37	chrX	48374470	48374470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccggaagcgcctggctcGgatcctcagtgcctgtgtct	4	10	12	15	3	2	0	1	0	1	0	5	2	4	2	5	3	2	1	5	3	1	0	rs387906723		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48374470G>A	ENST00000326194.6	+	12	1152	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	PORCN_ENST00000355092.3_Missense_Mutation_p.R364Q|PORCN_ENST00000367574.4_Missense_Mutation_p.R288Q|PORCN_ENST00000355961.4_Missense_Mutation_p.R365Q|PORCN_ENST00000537758.1_Missense_Mutation_p.R370Q|PORCN_ENST00000361988.3_Missense_Mutation_p.R359Q|PORCN_ENST00000359882.4_Missense_Mutation_p.R364Q	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	370					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTGGCTCGGATCCTCAGT	0.627																																						uc010nie.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1108-1110)cGg>cAg		Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.							65	57	60					X																	48374470		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48374470G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1109G>A	X.37:g.48374470G>A	ENSP00000322304:p.Arg370Gln					PORCN_uc004djr.1_Missense_Mutation_p.R365Q|PORCN_uc004djs.1_Missense_Mutation_p.R359Q|PORCN_uc011mlx.1_Missense_Mutation_p.R288Q|PORCN_uc004dju.1_Missense_Mutation_p.R228Q|PORCN_uc004djv.1_Missense_Mutation_p.R370Q|PORCN_uc004djw.1_Missense_Mutation_p.R364Q	p.R370Q	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			12	1267	+			370					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.1109G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435060	0.25813	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	3.02	0.34903	.	0.515857	0.20583	N	0.089496	T	0.47358	0.1441	N	0.20685	0.6	0.22842	N	0.998666	B;B;B;B;B	0.14012	0.002;0.0;0.009;0.002;0.001	B;B;B;B;B	0.16289	0.002;0.002;0.015;0.002;0.0	T	0.20009	-1.0288	10	0.14252	T	0.57	-5.7817	4.1214	0.10108	0.3205:0.2412:0.4383:0.0	.	364;370;288;359;365	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	Q	364;370;288;365;359;370;364	ENSP00000352946:R364Q;ENSP00000446401:R370Q;ENSP00000356546:R288Q;ENSP00000348233:R365Q;ENSP00000354978:R359Q;ENSP00000322304:R370Q;ENSP00000347207:R364Q	ENSP00000322304:R370Q	R	+	2	0	PORCN	48259414	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.386000	0.20702	0.623000	0.30267	0.529000	0.55759	CGG		0.627	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		A	48374470	G	A	48374470	3	1	247	1	0	0	0	0	1	0	0	0	12258	1116	39	2	1155	2	PORCN	23	48374470	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	37023	48374470	106896090	82	17600											
TSR2	90121	broad.mit.edu	37	chrX	54467162	54467162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgggggtgtgcacagccagGagaaggccaagtggctgggg	8	5	20	8	1	0	1	0	0	0	1	1	2	0	1	2	7	2	2	2	7	2	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:54467162G>A	ENST00000375151.4	+	2	142	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	41					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						GCACAGCCAGGAGAAGGCCAA	0.607																																						uc004dte.3																			0				breast(1)|endometrium(3)|lung(2)	6						c.(121-123)Gag>Aag		Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.							50	48	48					X																	54467162		2203	4300	6503	SO:0001583	missense	90121				rRNA processing		protein binding	g.chrX:54467162G>A	BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"WGG motif containing 1"					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.121G>A	X.37:g.54467162G>A	ENSP00000364293:p.Glu41Lys					TSR2_uc004dtf.3_Intron	p.E41K	NM_058163	NP_477511	Q969E8	TSR2_HUMAN			1	123	+			41						Missense_Mutation	SNP	ENST00000375151.4	37	c.121G>A	CCDS14358.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781916	0.90282	.	.	ENSG00000158526	ENST00000375151	.	.	.	5.04	5.04	0.67666	.	0.059919	0.64402	D	0.000002	T	0.78194	0.4245	M	0.80847	2.515	0.48288	D	0.999625	D	0.65815	0.995	D	0.67725	0.953	T	0.79434	-0.1805	9	0.42905	T	0.14	-11.1677	14.4005	0.67041	0.0:0.0:1.0:0.0	.	41	Q969E8	TSR2_HUMAN	K	41	.	ENSP00000364293:E41K	E	+	1	0	TSR2	54483887	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.753000	0.55180	2.092000	0.63282	0.513000	0.50165	GAG		0.607	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163		A	54467162	G	A	54467162	3	1	247	1	0	0	0	0	1	0	0	0	16662	1175	41	3	127	3	TSR2	23	54467162	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6092692	54467162	100803398	83	17601											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721735	64721735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccaaccaaccccagcGttcggtggctgatgagctcc	7	6	13	15	3	0	2	0	2	0	0	2	2	1	2	5	3	4	3	5	3	2	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:64721735G>A	ENST00000338957.4	+	5	1224	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R375H	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	386							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R236H(1)|p.R322H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCCCAGCGTTCGGTGGCT	0.532																																						uc010nko.3																			2	Substitution - Missense(2)	p.R236H(1)|p.R322H(1)	large_intestine(2)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1156-1158)cGt>cAt		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							27	27	27					X																	64721735		1945	4130	6075	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721735G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1157G>A	X.37:g.64721735G>A	ENSP00000340839:p.Arg386His						p.R386H	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1224	+			375					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1157G>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844664	0.71488	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.28895	1.59;1.6	5.0	5.0	0.66597	.	0.051704	0.85682	D	0.000000	T	0.57666	0.2069	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64024	-0.6504	10	0.87932	D	0	-23.803	15.8636	0.79043	0.0:0.0:1.0:0.0	.	375	Q5HYM0	ZC12B_HUMAN	H	386;375;322	ENSP00000340839:R386H;ENSP00000408077:R375H	ENSP00000218172:R322H	R	+	2	0	ZC3H12B	64638460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.541000	0.73865	2.047000	0.60756	0.513000	0.50165	CGT		0.532	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		A	64721735	G	A	64721735	3	1	247	1	0	0	0	0	1	0	0	0	17559	1145	40	1	1175	1	ZC3H12B	23	64721735	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	10254573	64721735	90548825	84	17602											
SLC7A3	84889	broad.mit.edu	37	chrX	70147393	70147393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtgccggtgtggatcCgagcaagtacacggaacagg	9	7	16	9	4	0	0	0	0	0	0	1	3	1	2	2	4	5	2	2	4	3	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:70147393C>T	ENST00000374299.3	-	7	1268	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R375Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	375					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGTGGATCCGAGCAAGTAC	0.577																																						uc004dyn.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1123-1125)cGg>cAg		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						107	70	83					X																	70147393		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147393C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1124G>A	X.37:g.70147393C>T	ENSP00000363417:p.Arg375Gln					SLC7A3_uc004dyo.3_Missense_Mutation_p.R375Q	p.R375Q	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			6	1298	-	Renal(35;0.156)		375					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1124G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	6.461	0.453177	0.12283	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89485	-2.52;-2.52	4.96	1.17	0.20885	Amino acid permease domain (1);	0.265891	0.41396	D	0.000898	T	0.77198	0.4095	N	0.19112	0.55	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.60762	-0.7199	10	0.23302	T	0.38	.	8.1642	0.31217	0.0:0.5776:0.0:0.4224	.	375	Q8WY07	CTR3_HUMAN	Q	375	ENSP00000363417:R375Q;ENSP00000298085:R375Q	ENSP00000298085:R375Q	R	-	2	0	SLC7A3	70064118	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-0.694000	0.05115	-0.081000	0.12662	0.436000	0.28706	CGG		0.577	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70147393	C	T	70147393	3	4	247	1	0	0	0	0	1	0	0	0	14698	652	23	2	759	2	SLC7A3	23	70147393	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	5425658	70147393	85123167	85	17603											
RAB40A	142684	broad.mit.edu	37	chrX	102755508	102755508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttcacccgctggccGtccagcaggatggtggtcgt	5	10	13	13	3	2	0	2	0	0	0	4	1	3	1	3	4	2	3	3	4	0	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:102755508G>A	ENST00000372633.1	-	1	2295	c.177C>T	c.(175-177)gaC>gaT	p.D59D	RAB40A_ENST00000304236.1_Silent_p.D59D|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	59					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCCGCTGGCCGTCCAGCAGGA	0.587																																						uc022cbs.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(175-177)gaC>gaT		Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.							103	90	95					X																	102755508		2203	4300	6503	SO:0001819	synonymous_variant	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755508G>A	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.177C>T	X.37:g.102755508G>A						RAB40A_uc004ekk.3_Silent_p.D59D	p.D59D	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN			0	177	-			59					O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	c.177C>T	CCDS35357.1																																																																																				0.587	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			A	102755508	G	A	102755508	2	1	247	1	0	0	0	0	0	0	0	1	12939	1136	40	1		1	RAB40A	23	102755508	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	32608115	102755508	52515052	86	17604											
NRK	203447	broad.mit.edu	37	chrX	105179166	105179166	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttacatctttgcagtataCgctggattcgtagaagtacc	10	13	8	10	2	1	1	0	0	1	1	2	2	1	2	2	1	4	5	2	1	6	7	rs56273831		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105179166C>T	ENST00000243300.9	+	21	3807	c.3504C>T	c.(3502-3504)taC>taT	p.Y1168Y	NRK_ENST00000428173.2_Silent_p.Y1169Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1168					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTGCAGTATACGCTGGATTCG	0.383										HNSCC(51;0.14)			C|||	1	0.000264901	8e-04	0	3775	,	,		11956	0		0	False		,,,				2504	0					uc004emd.3																			0		p.Y1168C(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3502-3504)taC>taT		Homo sapiens Nik related kinase (NRK), mRNA.							165	146	152					X																	105179166		1880	4096	5976	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179166C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3504C>T	X.37:g.105179166C>T		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.Y836Y	p.Y1168Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			20	3807	+			1168					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.3504C>T																																																																																					0.383	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105179166	C	T	105179166	2	4	247	1	0	0	0	0	0	0	0	1	10655	547	19	1		1	NRK	23	105179166	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	2423658	105179166	50091394	87	17605											
RNF128	79589	broad.mit.edu	37	chrX	105970562	105970562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttatgagagaggggCgtctggagccgtcatcttta	7	12	14	8	2	4	2	1	1	3	1	4	4	4	3	1	4	1	1	1	4	2	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105970562C>T	ENST00000255499.2	+	1	669	c.419C>T	c.(418-420)gCg>gTg	p.A140V	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	140	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GAGAGAGGGGCGTCTGGAGCC	0.597																																						uc004eml.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(418-420)gCg>gTg		Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.							54	49	51					X																	105970562		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970562C>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.419C>T	X.37:g.105970562C>T	ENSP00000255499:p.Ala140Val					RNF128_uc004emk.3_Intron	p.A140V	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			0	669	+			140			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.419C>T	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017467	0.75161	.	.	ENSG00000133135	ENST00000255499	T	0.19532	2.14	4.29	3.43	0.39272	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.91612	3.225	0.48632	D	0.999682	D	0.89917	1.0	D	0.97110	1.0	T	0.50457	-0.8826	10	0.49607	T	0.09	.	7.8746	0.29586	0.0:0.8792:0.0:0.1208	.	140	Q8TEB7	RN128_HUMAN	V	140	ENSP00000255499:A140V	ENSP00000255499:A140V	A	+	2	0	RNF128	105857218	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	5.634000	0.67833	0.778000	0.33520	0.600000	0.82982	GCG		0.597	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		T	105970562	C	T	105970562	3	4	247	1	0	0	0	0	1	0	0	0	13436	768	27	1	831	1	RNF128	23	105970562	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	791396	105970562	49299998	88	17606											
DOCK11	139818	broad.mit.edu	37	chrX	117748686	117748686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaatggatagaggatttaTtttcaatttaataaatgact	16	16	6	3	0	1	2	1	1	0	1	1	4	1	4	0	2	0	0	0	2	7	9			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:117748686T>C	ENST00000276202.7	+	29	3191	c.3128T>C	c.(3127-3129)aTt>aCt	p.I1043T	DOCK11_ENST00000276204.6_Missense_Mutation_p.I1043T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1043					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAGGATTTATTTTCAATTTA	0.299																																						uc004eqp.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3127-3129)aTt>aCt		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.							77	83	81					X																	117748686		2203	4295	6498	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117748686T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3128T>C	X.37:g.117748686T>C	ENSP00000276202:p.Ile1043Thr					DOCK11_uc004eqq.2_Missense_Mutation_p.I809T	p.I1043T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			28	3191	+			1043					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3128T>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383310	0.42207	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.66995	-0.24;-0.24	5.39	5.39	0.77823	.	0.295570	0.36555	N	0.002526	T	0.55862	0.1947	N	0.26042	0.785	0.28157	N	0.929147	B;B	0.16166	0.016;0.016	B;B	0.17098	0.017;0.017	T	0.56153	-0.8026	10	0.66056	D	0.02	-10.7705	14.6089	0.68501	0.0:0.0:0.0:1.0	.	1043;1043	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1043	ENSP00000276204:I1043T;ENSP00000276202:I1043T	ENSP00000276202:I1043T	I	+	2	0	DOCK11	117632714	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.191000	0.50981	1.899000	0.54978	0.441000	0.28932	ATT		0.299	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		C	117748686	T	C	117748686	3	2	247	1	0	0	0	0	1	0	0	0	4686	1493	52	4	3242	4	DOCK11	23	117748686	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	11778124	117748686	37521874	89	17607											
USP26	83844	broad.mit.edu	37	chrX	132161937	132161937	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggtggctgaacctcGttttgatgaactctgtccaa	9	12	9	11	1	2	3	1	3	1	0	4	3	3	3	2	2	2	2	2	2	3	2	rs142413133	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:132161937G>A	ENST00000511190.1	-	6	781	c.312C>T	c.(310-312)aaC>aaT	p.N104N	USP26_ENST00000370832.1_Silent_p.N104N|USP26_ENST00000406273.1_Silent_p.N104N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	104					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCTGAACCTCGTTTTGATGAA	0.383													G|||	6	0.0015894	0.0045	0	3775	,	,		13818	0		0	False		,,,				2504	0				NSCLC(104;342 1621 36940 47097 52632)	uc011mvf.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(310-312)aaC>aaT		Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.		G		8,3827		0,7,1,1625,570	82	72	75		312	-7.9	0	X	dbSNP_134	75	0,6726		0,0,0,2427,1872	no	coding-synonymous	USP26	NM_031907.1		0,7,1,4052,2442	AA,AG,A,GG,G		0.0,0.2086,0.0758		104/914	132161937	8,10553	2203	4299	6502	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161937G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.312C>T	X.37:g.132161937G>A						USP26_uc010nrm.1_Silent_p.N104N	p.N104N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			0	364	-	Acute lymphoblastic leukemia(192;0.000127)		104					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.312C>T	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		A	132161937	G	A	132161937	2	1	247	1	0	0	0	0	0	0	0	1	17054	1136	40	1		1	USP26	23	132161937	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	14413251	132161937	23108623	90	17608											
ZNF75D	7626	broad.mit.edu	37	chrX	134426220	134426220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacctctttcatatacAggctgggtttctttgtgagt	6	17	8	10	0	4	1	2	1	2	0	5	1	5	1	2	2	1	2	2	2	2	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:134426220A>G	ENST00000370766.3	-	4	3300	c.591T>C	c.(589-591)ccT>ccC	p.P197P	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	197					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTCATATACAGGCTGGGTTT	0.463																																						uc022ceq.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(589-591)ccT>ccC		Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.							120	109	112					X																	134426220		2203	4300	6503	SO:0001819	synonymous_variant	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134426220A>G	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.591T>C	X.37:g.134426220A>G						DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Intron	p.P197P	NM_007131	NP_009062	P51815	ZN75D_HUMAN			2	981	-			197					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	ENST00000370766.3	37	c.591T>C	CCDS14648.1																																																																																				0.463	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		G	134426220	A	G	134426220	2	3	247	1	0	0	0	0	0	0	0	1	18131	175	7	4		4	ZNF75D	23	134426220	Silent	SNP	A	TCGA-41-3393-01A-01D-1353-08	2264283	134426220	20844340	91	17609											
PASD1	139135	broad.mit.edu	37	chrX	150840069	150840069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaaacacattacgccacGttgtcattcctgatctccaa	12	10	5	14	2	2	1	1	1	1	0	4	1	3	1	4	0	3	1	4	0	3	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:150840069G>A	ENST00000370357.4	+	13	1500	c.1255G>A	c.(1255-1257)Gtt>Att	p.V419I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	419						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATTACGCCACGTTGTCATTCC	0.498																																						uc004fev.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1255-1257)Gtt>Att		Homo sapiens PAS domain containing 1 (PASD1), mRNA.							214	170	185					X																	150840069		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840069G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1255G>A	X.37:g.150840069G>A	ENSP00000359382:p.Val419Ile						p.V419I	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			12	1587	+	Acute lymphoblastic leukemia(192;6.56e-05)		419					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1255G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.248262	0.01469	.	.	ENSG00000166049	ENST00000370357	T	0.18960	2.18	3.64	-7.27	0.01461	.	.	.	.	.	T	0.07999	0.0200	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	9	0.07325	T	0.83	-24.4203	8.8706	0.35314	0.1418:0.1169:0.6324:0.1088	.	419	Q8IV76	PASD1_HUMAN	I	419	ENSP00000359382:V419I	ENSP00000359382:V419I	V	+	1	0	PASD1	150590725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.425000	0.00475	-3.339000	0.00184	-1.426000	0.01102	GTT		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		A	150840069	G	A	150840069	3	1	247	1	0	0	0	0	1	0	0	0	11471	1145	40	1	1301	1	PASD1	23	150840069	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	16413849	150840069	4430491	92	17610											
TNFRSF4	7293	broad.mit.edu	37	chr1	1149428	1149428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacacagtggagccccGtcacggtgctcagccccagg	7	4	12	18	3	2	0	2	0	0	0	2	2	2	1	6	3	3	1	6	3	0	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:1149428G>A	ENST00000379236.3	-	1	84	c.80C>T	c.(79-81)aCg>aTg	p.T27M	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	27					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGAGCCCCGTCACGGTGCT	0.726																																						uc001adf.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4								Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.							19	20	20					1																	1149428		2195	4293	6488	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1149428G>A	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.80C>T	1.37:g.1149428G>A	ENSP00000368538:p.Thr27Met					TNFRSF4_uc001ade.3_Missense_Mutation_p.T27M				P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	0		-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37		CCDS11.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224981	0.22457	.	.	ENSG00000186827	ENST00000379236	T	0.60920	0.15	3.49	1.52	0.23074	.	1.138080	0.06802	N	0.788974	T	0.32466	0.0830	N	0.08118	0	0.09310	N	1	B	0.30870	0.298	B	0.19666	0.026	T	0.16837	-1.0389	10	0.31617	T	0.26	-9.9719	5.9815	0.19409	0.2551:0.0:0.7449:0.0	.	27	P43489	TNR4_HUMAN	M	27	ENSP00000368538:T27M	ENSP00000368538:T27M	T	-	2	0	TNFRSF4	1139291	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.780000	0.26760	0.280000	0.22209	0.491000	0.48974	ACG		0.726	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			A	1149428	G	A	1149428	3	1	248	1	0	0	0	0	1	0	0	0	16294	1145	40	1	781	1	TNFRSF4	1	1149428	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		1149428	248101193	1	17611											
KAZ	23254	broad.mit.edu	37	chr1	15370623	15370623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggacctcaaggacaacCggatgaaggagctggaggcc	12	4	15	10	1	1	1	1	1	0	0	1	6	1	6	3	6	3	2	3	6	3	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:15370623C>T	ENST00000376030.2	+	4	988	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	KAZN_ENST00000400798.2_Missense_Mutation_p.R138W|KAZN_ENST00000422387.2_Missense_Mutation_p.R232W|KAZN_ENST00000503743.1_Missense_Mutation_p.R232W|KAZN_ENST00000361144.5_Missense_Mutation_p.R226W|KAZN_ENST00000400797.3_Missense_Mutation_p.R138W	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	232	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAAGGACAACCGGATGAAGGA	0.677																																						uc001avm.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(694-696)Cgg>Tgg		Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.							77	73	74					1																	15370623		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15370623C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.694C>T	1.37:g.15370623C>T	ENSP00000365198:p.Arg232Trp					KAZN_uc009vog.1_Missense_Mutation_p.R232W|KAZN_uc001avo.2_Missense_Mutation_p.R226W|KAZN_uc001avp.2_Missense_Mutation_p.R138W|KAZN_uc001avq.2_Missense_Mutation_p.R138W|KAZN_uc001avr.2_Missense_Mutation_p.R135W	p.R232W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			3	975	+			232			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.694C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044064	0.75732	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.57	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.64997	1.995	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.978;0.978;0.978;0.998	T	0.71052	-0.4704	10	0.87932	D	0	-32.5606	13.3668	0.60689	0.2441:0.7559:0.0:0.0	.	232;138;226;232	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	W	232;232;232;226;138;138;138	ENSP00000365198:R232W;ENSP00000426015:R232W;ENSP00000391728:R232W;ENSP00000354727:R226W;ENSP00000365196:R138W;ENSP00000383602:R138W;ENSP00000383601:R138W	ENSP00000354727:R226W	R	+	1	2	KAZN	15243210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	2.620000	0.88729	0.563000	0.77884	CGG		0.677	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		T	15370623	C	T	15370623	3	4	248	1	0	0	0	0	1	0	0	0	7988	643	23	2	920	2	KAZ	1	15370623	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	14221195	15370623	233879998	2	17612											
HP1BP3	50809	broad.mit.edu	37	chr1	21106920	21106921	+	Frame_Shift_Ins	INS	-	-	T																															gacgagttcaccttgagacgINStatcagtcgccattttaaat																								rs527248206		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:21106920_21106921insT	ENST00000312239.5	-	2	152_153	c.13_14insA	c.(13-15)acgfs	p.T5fs	HP1BP3_ENST00000375000.1_Frame_Shift_Ins_p.T5fs|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	5					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		ACCTTGAGACGTATCAGTCGCC	0.475																																						uc001bdy.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(13-15)acgfs		Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.																																				SO:0001589	frameshift_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21106920_21106921insT	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.14dupA	1.37:g.21106921_21106921dupT	ENSP00000312625:p.Thr5fs					HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc001bdw.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.3_Frame_Shift_Ins_p.T5fs	p.T5fs	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	0	113_114	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	5					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Frame_Shift_Ins	INS	ENST00000312239.5	37	c.13_14insA	CCDS30621.1																																																																																				0.475	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		T	21106921	-	T	21106920	7	5	248	1	0	1	1	0	0	0	0	0	7328	1145	40	0	1695	0	HP1BP3	1	21106920	Frame_Shift_Ins	INS	-	TCGA-41-3915-01A-01D-1353-08	5736297	21106920	228143701	3	17613											
ARID1A	8289	broad.mit.edu	37	chr1	27092731	27092731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgccaggctaccccaatAtgaatcaagggggcatgatg	11	6	13	11	1	1	2	1	2	0	0	1	2	1	2	4	4	1	2	4	4	5	2	rs141432631		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:27092731A>G	ENST00000324856.7	+	9	3123	c.2752A>G	c.(2752-2754)Atg>Gtg	p.M918V	ARID1A_ENST00000457599.2_Missense_Mutation_p.M918V|ARID1A_ENST00000374152.2_Missense_Mutation_p.M535V|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	918					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACCCCAATATGAATCAAGG	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2752-2754)Atg>Gtg		Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.		A	VAL/MET,VAL/MET	0,4406		0,0,2203	83	81	82		2752,2752	5.1	1	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARID1A	NM_006015.4,NM_139135.2	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	918/2286,918/2069	27092731	1,13005	2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27092731A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2752A>G	1.37:g.27092731A>G	ENSP00000320485:p.Met918Val					ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	p.M918V	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	8	3125	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	918					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2752A>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582688	0.46006	0.0	1.16E-4	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02369	4.53;4.32;4.35	6.17	5.06	0.68205	.	0.034879	0.85682	N	0.000000	T	0.05044	0.0135	M	0.71581	2.175	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.26950	-1.0088	10	0.19147	T	0.46	-3.5416	12.1016	0.53788	0.9338:0.0:0.0662:0.0	.	918;918;572	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	918;918;535	ENSP00000320485:M918V;ENSP00000387636:M918V;ENSP00000363267:M535V	ENSP00000320485:M918V	M	+	1	0	ARID1A	26965318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.776000	0.68924	1.165000	0.42670	0.533000	0.62120	ATG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		G	27092731	A	G	27092731	3	3	248	1	0	0	0	0	1	0	0	0	913	449	16	4	2786	4	ARID1A	1	27092731	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	5985811	27092731	222157890	4	17614											
RNF19B	127544	broad.mit.edu	37	chr1	33408041	33408042	+	Frame_Shift_Ins	INS	-	-	GC																															caatgctgggattcttgaggINSgctctccaggcatctgccac																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:33408041_33408042insGC	ENST00000373456.7	-	7	1423_1424	c.1424_1425insGC	c.(1423-1425)gccfs	p.A475fs	RNF19B_ENST00000356990.5_Frame_Shift_Ins_p.A474fs|RNF19B_ENST00000235150.4_Frame_Shift_Ins_p.A474fs	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	475					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTCTTGAGGGCTCTCCAGGC	0.475																																						uc010oho.2																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1423-1425)gccfs		Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33408041_33408042insGC	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1423_1424dupGC	1.37:g.33408042_33408043dupGC	ENSP00000362555:p.Ala475fs					RNF19B_uc001bwm.4_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.2_Frame_Shift_Ins_p.A474fs	p.A475fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN			6	1424_1425	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	475					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Frame_Shift_Ins	INS	ENST00000373456.7	37	c.1424_1425insGC	CCDS372.2																																																																																				0.475	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		GC	33408042	-	GC	33408041	7	5	248	1	0	1	1	0	0	0	0	0	13471	1219	43	0	811	0	RNF19B	1	33408041	Frame_Shift_Ins	INS	-	TCGA-41-3915-01A-01D-1353-08	6315310	33408041	215842580	5	17615											
FAM159A	348378	broad.mit.edu	37	chr1	53099192	53099192	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgcctgcacgagctacgtGagcgcagagcaggaggtggt	8	5	18	10	4	0	2	0	1	0	1	0	4	0	3	1	4	5	4	1	4	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:53099192G>C	ENST00000517870.1	+	1	177	c.27G>C	c.(25-27)gtG>gtC	p.V9V	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	9						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CGAGCTACGTGAGCGCAGAGC	0.751																																						uc001cuf.3																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(25-27)gtG>gtC		Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.							9	9	9					1																	53099192		1853	4039	5892	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53099192G>C		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.27G>C	1.37:g.53099192G>C						FAM159A_uc001cug.1_Non-coding_Transcript|FAM159A_uc001cuh.3_Non-coding_Transcript	p.V9V	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			0	127	+			9					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.27G>C	CCDS41336.1																																																																																				0.751	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		C	53099192	G	C	53099192	2	2	248	1	0	0	0	0	0	0	0	1	5468	1277	45	5		5	FAM159A	1	53099192	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	19691151	53099192	196151429	6	17616											
WDR63	126820	broad.mit.edu	37	chr1	85559260	85559260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccacctgaaagagtaccAgtcctttaccgaccttcata	12	10	5	14	1	1	2	1	1	0	1	2	3	2	2	6	0	3	1	6	0	5	6			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85559260A>T	ENST00000294664.6	+	9	1157	c.977A>T	c.(976-978)cAg>cTg	p.Q326L	WDR63_ENST00000370596.1_Missense_Mutation_p.Q287L|WDR63_ENST00000326813.8_Missense_Mutation_p.Q287L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	326										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGAGTACCAGTCCTTTACC	0.438																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(976-978)cAg>cTg		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							195	182	187					1																	85559260		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85559260A>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.977A>T	1.37:g.85559260A>T	ENSP00000294664:p.Gln326Leu					WDR63_uc009wcl.3_Missense_Mutation_p.Q287L	p.Q326L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	8	1168	+			326					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.977A>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696271	0.88830	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.46451	0.88;0.88;0.87	5.84	5.84	0.93424	WD40 repeat-like-containing domain (1);	0.107611	0.64402	N	0.000003	T	0.44435	0.1293	M	0.76838	2.35	0.58432	D	0.999996	D;P	0.53151	0.958;0.765	P;B	0.52217	0.693;0.287	T	0.41752	-0.9491	10	0.18710	T	0.47	-20.267	16.2068	0.82134	1.0:0.0:0.0:0.0	.	287;326	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	287;287;326	ENSP00000359628:Q287L;ENSP00000317463:Q287L;ENSP00000294664:Q326L	ENSP00000294664:Q326L	Q	+	2	0	WDR63	85331848	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.805000	0.69143	2.229000	0.72834	0.528000	0.53228	CAG		0.438	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		T	85559260	A	T	85559260	3	4	248	1	0	0	0	0	1	0	0	0	17311	188	7	5	1007	5	WDR63	1	85559260	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	32460068	85559260	163691361	7	17617											
WDR63	126820	broad.mit.edu	37	chr1	85592202	85592202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtttaaagactggaccGctccttcagtcatgctgtgc	8	14	9	10	1	2	1	2	0	0	1	3	2	3	2	2	1	2	3	2	1	2	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85592202G>A	ENST00000294664.6	+	20	2301	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	WDR63_ENST00000370596.1_Silent_p.P668P|WDR63_ENST00000326813.8_Silent_p.P668P	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	707										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGACTGGACCGCTCCTTCAGT	0.423																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2119-2121)ccG>ccA		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							34	35	35					1																	85592202		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85592202G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2121G>A	1.37:g.85592202G>A						WDR63_uc009wcl.3_Silent_p.P668P	p.P707P	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	19	2312	+			707					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.2121G>A	CCDS702.1																																																																																				0.423	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85592202	G	A	85592202	2	1	248	1	0	0	0	0	0	0	0	1	17311	1074	38	1		1	WDR63	1	85592202	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	32942	85592202	163658419	8	17618											
TDRKH	11022	broad.mit.edu	37	chr1	151748582	151748582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgacctgagagcccTgaggtccttcagtgggcaat	9	8	12	12	0	1	3	1	3	0	1	2	4	2	3	3	2	2	2	3	2	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:151748582T>C	ENST00000368822.1	-	8	1840	c.1207A>G	c.(1207-1209)Agg>Ggg	p.R403G	TDRKH_ENST00000368824.3_Missense_Mutation_p.R403G|TDRKH_ENST00000368827.6_Missense_Mutation_p.R403G|TDRKH_ENST00000440583.2_Missense_Mutation_p.R179G|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000458431.2_Missense_Mutation_p.R403G|TDRKH_ENST00000368823.1_Missense_Mutation_p.R399G|TDRKH_ENST00000368825.3_Missense_Mutation_p.R358G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	403	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGAGCCCTGAGGTCCTTC	0.537																																						uc009wnb.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1207-1209)Agg>Ggg		Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.							67	68	68					1																	151748582		1965	4165	6130	SO:0001583	missense	11022						RNA binding	g.chr1:151748582T>C	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1207A>G	1.37:g.151748582T>C	ENSP00000357812:p.Arg403Gly					TDRKH_uc001eyy.2_Missense_Mutation_p.R179G|TDRKH_uc001ezb.4_Missense_Mutation_p.R399G|TDRKH_uc001ezc.4_Missense_Mutation_p.R358G|TDRKH_uc001eza.4_Missense_Mutation_p.R403G|TDRKH_uc001ezd.4_Missense_Mutation_p.R403G|TDRKH_uc010pdn.1_Missense_Mutation_p.R179G	p.R403G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1389	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		403			Tudor.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.1207A>G	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917291	0.33815	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.38	3.01	0.34805	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.146083	0.64402	D	0.000008	T	0.29223	0.0727	M	0.90922	3.16	0.40830	D	0.983586	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.87578	0.998;0.998;0.914	T	0.11641	-1.0579	10	0.66056	D	0.02	-18.8543	7.6603	0.28400	0.1353:0.0:0.4555:0.4092	.	358;399;403	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	G	403;358;403;399;403;403;179	ENSP00000357819:R403G;ENSP00000357817:R358G;ENSP00000357815:R403G;ENSP00000357813:R399G;ENSP00000357812:R403G;ENSP00000395718:R403G;ENSP00000416645:R179G	ENSP00000357812:R403G	R	-	1	2	TDRKH	150015206	0.870000	0.30015	0.999000	0.59377	0.987000	0.75469	0.081000	0.14823	0.463000	0.27118	0.533000	0.62120	AGG		0.537	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		C	151748582	T	C	151748582	3	2	248	1	0	0	0	0	1	0	0	0	15734	1579	55	4	502	4	TDRKH	1	151748582	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	66156380	151748582	97502039	9	17619											
CR2	1380	broad.mit.edu	37	chr1	207643227	207643227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcagaagactgggacctgGagtggccctgccccacgctg	8	6	14	13	1	1	2	1	0	0	2	1	4	1	4	4	3	1	1	4	3	1	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:207643227G>A	ENST00000367058.3	+	6	1194	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_ENST00000458541.2_Nonsense_Mutation_p.W335*|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Nonsense_Mutation_p.W335*|CR2_ENST00000367059.3_Nonsense_Mutation_p.W335*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	335	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.W335*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTGGGACCTGGAGTGGCCCTG	0.522																																						uc001hfw.3																			1	Substitution - Nonsense(1)	p.W335*(2)	skin(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1003-1005)tgG>tgA		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							125	107	113					1																	207643227		2203	4300	6503	SO:0001587	stop_gained	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643227G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1005G>A	1.37:g.207643227G>A	ENSP00000356025:p.Trp335*					CR2_uc001hfv.3_Nonsense_Mutation_p.W335*|CR2_uc009xch.3_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	p.W335*	NM_001877	NP_001868	P20023	CR2_HUMAN			5	1124	+			335			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	c.1005G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646451	0.96704	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7242	0.69332	0.0:0.0:1.0:0.0	.	.	.	.	X	335	.	ENSP00000356024:W335X	W	+	3	0	CR2	205709850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.015000	0.64035	2.756000	0.94617	0.561000	0.74099	TGG		0.522	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207643227	G	A	207643227	4	1	248	1	0	0	0	0	0	1	0	0	3842	1183	41	3	1027	3	CR2	1	207643227	Nonsense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	55894645	207643227	41607394	10	17620											
OR1C1	26188	broad.mit.edu	37	chr1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagggctgaaatagaCggcgatggctgtgccgtaaa	12	7	16	6	3	0	3	0	2	0	1	0	5	0	4	1	4	1	3	1	4	5	2	rs373256453		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													C|||	1	0.000199681	0	0	5008	,	,		20161	0.001		0	False		,,,				2504	0					uc010pza.2																			0		p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(772-774)Gtc>Atc		Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.		C	ILE/VAL	0,4084		0,0,2042	71	70	70		772	3.2	1	1		70	1,8419		0,1,4209	no	missense	OR1C1	NM_012353.2	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	258/315	247920937	1,12503	2042	4210	6252	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920937C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.772G>A	1.37:g.247920937C>T	ENSP00000386138:p.Val258Ile						p.V258I	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	772	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	258					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.772G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741331	0.30865	0.0	1.19E-4	ENSG00000221888	ENST00000408896	T	0.00091	8.74	3.22	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.32530	0.975	0.09310	N	1	P	0.45126	0.851	P	0.47573	0.55	T	0.49995	-0.8879	9	0.66056	D	0.02	.	5.9827	0.19415	0.0:0.691:0.1975:0.1115	.	258	Q15619	OR1C1_HUMAN	I	258	ENSP00000386138:V258I	ENSP00000386138:V258I	V	-	1	0	OR1C1	245987560	0.000000	0.05858	0.986000	0.45419	0.279000	0.26890	-0.836000	0.04382	1.798000	0.52647	0.591000	0.81541	GTC		0.512	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			T	247920937	C	T	247920937	3	4	248	1	0	0	0	0	1	0	0	0	10952	536	19	1	174	1	OR1C1	1	247920937	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	40277710	247920937	1329684	11	17621											
SPATS2L	26010	broad.mit.edu	37	chr2	201332021	201332021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttggcagtggaaatcCtgactgctcgtcagaagaaa	12	11	10	8	1	1	3	1	1	0	2	3	4	2	4	1	2	1	2	1	2	4	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:201332021C>T	ENST00000358677.5	+	10	1103	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	SPATS2L_ENST00000409988.3_Silent_p.L286L|SPATS2L_ENST00000409385.1_Silent_p.L226L|SPATS2L_ENST00000451764.2_Silent_p.L286L|SPATS2L_ENST00000409718.1_Silent_p.L286L|SPATS2L_ENST00000409151.1_Silent_p.L294L|SPATS2L_ENST00000409755.3_Silent_p.L316L|SPATS2L_ENST00000360760.5_Silent_p.L217L|SPATS2L_ENST00000409140.3_Silent_p.L286L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	286						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGTGGAAATCCTGACTGCTCG	0.438																																						uc010zhc.2																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(946-948)Ctg>Ttg		Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.							60	57	58					2																	201332021		1913	4140	6053	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201332021C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.856C>T	2.37:g.201332021C>T						SPATS2L_uc002uvn.4_Silent_p.L286L|SPATS2L_uc010fst.3_Silent_p.L286L|SPATS2L_uc002uvo.4_Silent_p.L226L|SPATS2L_uc002uvp.4_Silent_p.L286L|SPATS2L_uc002uvq.4_Silent_p.L217L|SPATS2L_uc002uvr.4_Silent_p.L286L	p.L316L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			9	1069	+			286					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.946C>T	CCDS46483.1																																																																																				0.438	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		T	201332021	C	T	201332021	2	4	248	1	0	0	0	0	0	0	0	1	15019	680	24	3		3	SPATS2L	2	201332021	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		201332021	41867352	12	17622											
RAPH1	65059	broad.mit.edu	37	chr2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtagataccagatgctcGcaagagaaaataacgctttt	16	10	8	7	2	0	3	0	0	0	3	1	4	0	3	1	0	3	4	1	0	7	6	rs541215148		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383																																						uc002vad.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1261-1263)Cga>Tga		Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.							146	146	146					2																	204320201		2203	4300	6503	SO:0001587	stop_gained	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204320201G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1261C>T	2.37:g.204320201G>A	ENSP00000316543:p.Arg421*					RAPH1_uc002vae.3_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.3_Nonsense_Mutation_p.R473*	p.R421*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			8	1486	-			421			PH.		Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	c.1261C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804315	0.90623	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.55	-0.0397	0.13875	.	0.000000	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3466	15.9791	0.80094	0.0:0.0:0.4223:0.5777	.	.	.	.	X	421;421;473;448;446;473;446;421;448;473;446;421;448	.	ENSP00000311293:R473X	R	-	1	2	RAPH1	204028446	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	2.501000	0.45389	0.052000	0.16007	0.655000	0.94253	CGA		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		A	204320201	G	A	204320201	4	1	248	1	0	0	0	0	0	1	0	0	13050	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	2988180	204320201	38879172	13	17623											
DGKD	8527	broad.mit.edu	37	chr2	234344488	234344488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatttaaggcccacaagcGctgtgctgtgcgtgcaacca	11	8	10	12	2	0	0	0	0	0	0	0	0	0	0	2	1	5	3	2	1	4	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:234344488G>A	ENST00000264057.2	+	6	623	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DGKD_ENST00000409813.3_Missense_Mutation_p.R160H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	204					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCCCACAAGCGCTGTGCTGTG	0.507																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(610-612)cGc>cAc		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						123	110	115					2																	234344488		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234344488G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.611G>A	2.37:g.234344488G>A	ENSP00000264057:p.Arg204His					DGKD_uc002vuj.1_Missense_Mutation_p.R160H|DGKD_uc010fyh.1_Missense_Mutation_p.R71H|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R71H	p.R204H	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	5	623	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	204					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.611G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284641	0.95517	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000409813	D;D;D	0.93604	-3.25;-3.25;-3.25	4.44	4.44	0.53790	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.166436	0.38720	N	0.001583	D	0.96128	0.8738	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;0.981	P;D;D;P	0.83275	0.884;0.996;0.996;0.626	D	0.96464	0.9343	10	0.66056	D	0.02	.	17.6674	0.88207	0.0:0.0:1.0:0.0	.	88;140;160;204	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	H	204;140;160	ENSP00000264057:R204H;ENSP00000407938:R140H;ENSP00000386455:R160H	ENSP00000264057:R204H	R	+	2	0	DGKD	234009227	1.000000	0.71417	0.621000	0.29145	0.983000	0.72400	9.125000	0.94402	2.489000	0.83994	0.655000	0.94253	CGC		0.507	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		A	234344488	G	A	234344488	3	1	248	1	0	0	0	0	1	0	0	0	4467	1087	38	1	657	1	DGKD	2	234344488	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	30024287	234344488	8854885	14	17624											
COL6A3	1293	broad.mit.edu	37	chr2	238305417	238305417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaagcctgagagaaagAggcaaaagacggccactaag	18	3	13	7	1	0	4	0	1	0	3	0	6	0	5	2	3	1	1	2	3	6	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:238305417A>G	ENST00000295550.4	-	2	496	c.44T>C	c.(43-45)cTc>cCc	p.L15P	COL6A3_ENST00000353578.4_Missense_Mutation_p.L15P|COL6A3_ENST00000392004.3_Missense_Mutation_p.L15P|COL6A3_ENST00000347401.3_Missense_Mutation_p.L15P|COL6A3_ENST00000392003.2_Missense_Mutation_p.L15P|COL6A3_ENST00000472056.1_Missense_Mutation_p.L15P|COL6A3_ENST00000409809.1_Missense_Mutation_p.L15P|COL6A3_ENST00000346358.4_Missense_Mutation_p.L15P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	15					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGAGAAAGAGGCAAAAGAC	0.423																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(43-45)cTc>cCc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							117	121	120					2																	238305417		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305417A>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.44T>C	2.37:g.238305417A>G	ENSP00000295550:p.Leu15Pro					COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.3_Missense_Mutation_p.L15P|COL6A3_uc002vwr.3_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	p.L15P	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	1	329	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	15					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.44T>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201836	0.79015	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.88975	-1.17;-1.17;-1.2;-2.45;-1.2;-1.17;-1.2;-0.1;-1.17	5.46	5.46	0.80206	.	0.000000	0.46758	D	0.000266	D	0.93400	0.7895	M	0.66939	2.045	0.49798	D	0.999821	D;D;P;D;D;D	0.89917	0.992;0.996;0.951;1.0;1.0;0.989	P;P;P;D;D;P	0.97110	0.844;0.844;0.616;0.999;1.0;0.786	D	0.94042	0.7310	10	0.87932	D	0	.	14.109	0.65111	1.0:0.0:0.0:0.0	.	15;15;15;15;15;15	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	P	15	ENSP00000295550:L15P;ENSP00000315609:L15P;ENSP00000315873:L15P;ENSP00000418285:L15P;ENSP00000386844:L15P;ENSP00000295546:L15P;ENSP00000375861:L15P;ENSP00000375860:L15P;ENSP00000389539:L15P	ENSP00000295550:L15P	L	-	2	0	COL6A3	237970156	1.000000	0.71417	0.977000	0.42913	0.847000	0.48162	6.158000	0.71851	2.071000	0.62044	0.528000	0.53228	CTC		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238305417	A	G	238305417	3	3	248	1	0	0	0	0	1	0	0	0	3701	304	11	4	9708	4	COL6A3	2	238305417	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	3960929	238305417	4893956	15	17625											
NCAPG	64151	broad.mit.edu	37	chr4	17825349	17825349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttcttttcttgttgaaAgactactccacatcattata	10	18	5	8	0	3	2	1	1	2	1	4	2	4	2	1	1	1	2	1	1	4	8			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:17825349A>G	ENST00000251496.2	+	9	1515	c.1339A>G	c.(1339-1341)Aga>Gga	p.R447G		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	447					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TCTTGTTGAAAGACTACTCCA	0.323																																						uc003gpp.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1339-1341)Aga>Gga		Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.							74	76	75					4																	17825349		2203	4295	6498	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17825349A>G	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1339A>G	4.37:g.17825349A>G	ENSP00000251496:p.Arg447Gly					NCAPG_uc011bxj.2_5'UTR	p.R447G	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	8	1515	+			447					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1339A>G	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107289	0.37145	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.47869	1.5;0.83	4.81	0.66	0.17868	Armadillo-type fold (1);	0.118436	0.64402	D	0.000002	T	0.38054	0.1026	M	0.62723	1.935	0.32930	D	0.516997	P	0.34800	0.469	B	0.33042	0.157	T	0.43327	-0.9398	10	0.23891	T	0.37	-9.8538	8.23	0.31593	0.4728:0.3991:0.0:0.1281	.	447	Q9BPX3	CND3_HUMAN	G	447;10	ENSP00000251496:R447G;ENSP00000425625:R10G	ENSP00000251496:R447G	R	+	1	2	NCAPG	17434447	0.993000	0.37304	0.827000	0.32855	0.606000	0.37113	2.975000	0.49281	0.039000	0.15632	0.533000	0.62120	AGA		0.323	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		G	17825349	A	G	17825349	3	3	248	1	0	0	0	0	1	0	0	0	10207	64	3	4	1373	4	NCAPG	4	17825349	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		17825349	173328927	16	17626											
GC	2638	broad.mit.edu	37	chr4	72620754	72620754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattcaccaaggctttttaGggttggctcaagtaccttac	9	13	9	10	0	2	0	2	0	0	0	2	0	2	0	2	3	2	5	2	3	5	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:72620754G>C	ENST00000273951.8	-	9	1448	c.1105C>G	c.(1105-1107)Cta>Gta	p.L369V	GC_ENST00000513476.1_Missense_Mutation_p.L369V|GC_ENST00000504199.1_Missense_Mutation_p.L388V|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	369	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AGGCTTTTTAGGGTTGGCTCA	0.388																																						uc010iif.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(1162-1164)Cta>Gta		Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	Cholecalciferol(DB00169)						137	128	131					4																	72620754		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72620754G>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1105C>G	4.37:g.72620754G>C	ENSP00000273951:p.Leu369Val					GC_uc003hge.3_Missense_Mutation_p.L369V|GC_uc021xpb.1_Missense_Mutation_p.L369V	p.L388V	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Lung(101;0.148)		9	1257	-		all_hematologic(202;0.107)	369			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1162C>G	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	2.900	-0.227693	0.06022	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.72942	-0.7;-0.7;-0.7	4.81	3.9	0.45041	.	0.394253	0.23662	N	0.045803	T	0.62134	0.2403	L	0.55481	1.735	0.29209	N	0.874718	B;B	0.15141	0.012;0.008	B;B	0.11329	0.006;0.005	T	0.53556	-0.8422	10	0.29301	T	0.29	.	9.7904	0.40702	0.0:0.0:0.7949:0.2051	.	388;369	D6RAK8;D6RF35	.;.	V	369;388;369	ENSP00000273951:L369V;ENSP00000421725:L388V;ENSP00000426683:L369V	ENSP00000273951:L369V	L	-	1	2	GC	72839618	0.281000	0.24258	1.000000	0.80357	0.103000	0.19146	0.138000	0.16016	2.635000	0.89317	0.561000	0.74099	CTA		0.388	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			C	72620754	G	C	72620754	3	2	248	1	0	0	0	0	1	0	0	0	6282	991	35	5	335	5	GC	4	72620754	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	54795405	72620754	118533522	17	17627											
C4orf22	255119	broad.mit.edu	37	chr4	81504250	81504250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctgccttttacaggacGctaacaagtgctggtaaaga	13	10	10	8	1	1	2	0	0	1	2	1	3	1	3	1	2	4	3	1	2	5	4	rs141410009	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:81504250G>A	ENST00000358105.3	+	3	295	c.246G>A	c.(244-246)acG>acA	p.T82T	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Silent_p.T82T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	82										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTTACAGGACGCTAACAAGTG	0.383													G|||	4	0.000798722	0.003	0	5008	,	,		12505	0		0	False		,,,				2504	0					uc010ijp.3																			0		p.T82M(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(244-246)acG>acA		Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	72	73	72		246,246	-3.9	0.4	4	dbSNP_134	72	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	C4orf22	NM_001206997.1,NM_152770.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	82/251,82/234	81504250	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	255119							g.chr4:81504250G>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.246G>A	4.37:g.81504250G>A						C4orf22_uc003hmf.3_Silent_p.T82T	p.T82T	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN			2	295	+			82					E7EQ13|Q6ZQY4|Q8N4G9	Silent	SNP	ENST00000358105.3	37	c.246G>A	CCDS3587.1																																																																																				0.383	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		A	81504250	G	A	81504250	2	1	248	1	0	0	0	0	0	0	0	1	2255	1074	38	1		1	C4orf22	4	81504250	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	8883496	81504250	109650026	18	17628											
PRKG2	5593	broad.mit.edu	37	chr4	82125882	82125882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaatccagaggtcttcCggtggacctcaagaggcact	11	7	11	12	1	2	3	1	0	1	3	4	4	4	4	4	4	0	1	4	4	2	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:82125882C>T	ENST00000395578.1	-	2	436	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	PRKG2_ENST00000418486.2_Missense_Mutation_p.R107Q|PRKG2_ENST00000264399.1_Missense_Mutation_p.R107Q			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	107					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGAGGTCTTCCGGTGGACCTC	0.562																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(319-321)cGg>cAg		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							117	130	126					4																	82125882		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82125882C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.320G>A	4.37:g.82125882C>T	ENSP00000378945:p.Arg107Gln					PRKG2_uc011cch.1_Missense_Mutation_p.R107Q	p.R107Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN			0	333	-			107					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.320G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	9.461	1.093127	0.20471	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.69175	-0.26;-0.26;-0.38	5.18	5.18	0.71444	.	0.264428	0.34986	N	0.003531	T	0.44180	0.1281	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.021;0.009	B;B	0.08055	0.003;0.0	T	0.37957	-0.9683	10	0.13108	T	0.6	-13.5773	14.0706	0.64856	0.0:1.0:0.0:0.0	.	107;107	E7EPE6;Q13237	.;KGP2_HUMAN	Q	107	ENSP00000378945:R107Q;ENSP00000264399:R107Q;ENSP00000389038:R107Q	ENSP00000264399:R107Q	R	-	2	0	PRKG2	82344906	0.986000	0.35501	0.993000	0.49108	0.422000	0.31414	1.759000	0.38420	2.690000	0.91761	0.585000	0.79938	CGG		0.562	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		T	82125882	C	T	82125882	3	4	248	1	0	0	0	0	1	0	0	0	12523	652	23	2	2040	2	PRKG2	4	82125882	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	621632	82125882	109028394	19	17629											
ADCY2	108	broad.mit.edu	37	chr5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaagggagaacgaCggagcccccagcatctcttc	10	5	9	17	2	2	1	1	0	1	1	4	4	2	2	4	2	3	1	4	2	2	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:7709333C>T	ENST00000338316.4	+	10	1500	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	471					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587																																						uc003jdz.1																			0		p.R471L(1)|p.R471Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1411-1413)Cgg>Tgg		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.							63	59	61					5																	7709333		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709333C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1411C>T	5.37:g.7709333C>T	ENSP00000342952:p.Arg471Trp					ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	p.R471W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			9	1478	+			471					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1411C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539393	0.65085	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82167	-1.11;-1.58	5.62	2.72	0.32119	.	0.231720	0.35708	N	0.003037	D	0.82935	0.5145	L	0.42245	1.32	0.32307	N	0.564209	D;D	0.69078	0.997;0.995	P;P	0.57468	0.821;0.757	D	0.84299	0.0504	10	0.72032	D	0.01	.	8.6077	0.33784	0.3958:0.5374:0.0:0.0668	.	291;471	B7Z2C1;Q08462	.;ADCY2_HUMAN	W	471;322;291	ENSP00000342952:R471W;ENSP00000444803:R291W	ENSP00000342952:R471W	R	+	1	2	ADCY2	7762333	0.911000	0.30947	0.623000	0.29173	0.932000	0.56968	1.452000	0.35156	0.704000	0.31869	-0.319000	0.08680	CGG		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7709333	C	T	7709333	3	4	248	1	0	0	0	0	1	0	0	0	294	527	19	1	1449	1	ADCY2	5	7709333	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		7709333	173205927	20	17630											
PIK3R1	5295	broad.mit.edu	37	chr5	67589298	67589298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaattactttatccagtatCcaaataccaacaggtaataa	18	11	4	8	0	0	0	0	0	0	0	2	1	2	0	3	1	3	2	3	1	9	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:67589298C>A	ENST00000521381.1	+	10	1902	c.1286C>A	c.(1285-1287)tCc>tAc	p.S429Y	PIK3R1_ENST00000521657.1_Missense_Mutation_p.S429Y|PIK3R1_ENST00000336483.5_Missense_Mutation_p.S159Y|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S429Y|PIK3R1_ENST00000523872.1_Missense_Mutation_p.S66Y|PIK3R1_ENST00000320694.8_Missense_Mutation_p.S129Y|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S429Y	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	429					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATCCAGTATCCAAATACCAA	0.318			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1285-1287)tCc>tAc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						35	36	36					5																	67589298		2203	4296	6499	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589298C>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1286C>A	5.37:g.67589298C>A	ENSP00000428056:p.Ser429Tyr	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.3_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.3_Missense_Mutation_p.S108Y|PIK3R1_uc021xzn.1_Missense_Mutation_p.S66Y|PIK3R1_uc011crb.2_Missense_Mutation_p.S99Y	p.S429Y	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1866	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	429					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1286C>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751635	0.89753	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.34	5.34	0.76211	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.977;0.996;0.996;0.995	D	0.84984	0.0890	10	0.62326	D	0.03	-16.6312	19.5946	0.95530	0.0:1.0:0.0:0.0	.	99;159;129;429	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	Y	429;429;429;429;129;66;159;102;66	ENSP00000428056:S429Y;ENSP00000429277:S429Y;ENSP00000379855:S429Y;ENSP00000274335:S429Y;ENSP00000323512:S129Y;ENSP00000431058:S66Y;ENSP00000338554:S159Y;ENSP00000429156:S102Y;ENSP00000430098:S66Y	ENSP00000274335:S429Y	S	+	2	0	PIK3R1	67625054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.937000	0.99478	0.650000	0.86243	TCC		0.318	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67589298	C	A	67589298	3	1	248	1	0	0	0	0	1	0	0	0	11918	855	30	5	1450	5	PIK3R1	5	67589298	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	59879965	67589298	113325962	21	17631											
PCDHB12	56124	broad.mit.edu	37	chr5	140588488	140588488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaagctatggaaaaCggaggggcaggcactctgca	15	4	15	7	1	1	1	0	0	1	1	1	4	1	4	0	6	3	4	0	6	6	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:140588488C>T	ENST00000239450.2	+	1	198	c.9C>T	c.(7-9)aaC>aaT	p.N3N	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	3					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATGGAAAACGGAGGGGCAG	0.493																																						uc003liz.3																			0		p.E2*(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(7-9)aaC>aaT		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							82	87	85					5																	140588488		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588488C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.9C>T	5.37:g.140588488C>T						PCDHB12_uc011dak.2_5'UTR	p.N3N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	198	+			3					B4DDU1	Silent	SNP	ENST00000239450.2	37	c.9C>T	CCDS4254.1																																																																																				0.493	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140588488	C	T	140588488	2	4	248	1	0	0	0	0	0	0	0	1	11537	535	19	1		1	PCDHB12	5	140588488	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	72999190	140588488	40326772	22	17632											
FOXI1	2299	broad.mit.edu	37	chr5	169533358	169533358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctactcggctctcatcGccatggccatccacggggca	7	9	9	16	3	1	0	1	0	1	0	6	0	3	0	4	4	1	2	4	4	1	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:169533358G>C	ENST00000306268.6	+	1	458	c.397G>C	c.(397-399)Gcc>Ccc	p.A133P	FOXI1_ENST00000449804.2_Missense_Mutation_p.A133P			Q12951	FOXI1_HUMAN	forkhead box I1	133					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTCTCATCGCCATGGCCAT	0.642									Pendred syndrome																													uc003mai.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(397-399)Gcc>Ccc		Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.							33	30	31					5																	169533358		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533358G>C	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.397G>C	5.37:g.169533358G>C	ENSP00000304286:p.Ala133Pro					FOXI1_uc003maj.4_Missense_Mutation_p.A133P	p.A133P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		0	442	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	133					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.397G>C	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823027	0.90873	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95756	-3.8;-3.8	5.14	5.14	0.70334	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99705	1.1005	10	0.87932	D	0	.	18.6358	0.91378	0.0:0.0:1.0:0.0	.	133;133	Q12951-2;Q12951	.;FOXI1_HUMAN	P	133	ENSP00000304286:A133P;ENSP00000415483:A133P	ENSP00000304286:A133P	A	+	1	0	FOXI1	169465936	1.000000	0.71417	0.966000	0.40874	0.913000	0.54294	9.863000	0.99569	2.397000	0.81536	0.650000	0.86243	GCC		0.642	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		C	169533358	G	C	169533358	3	2	248	1	0	0	0	0	1	0	0	0	6009	1087	38	5	399	5	FOXI1	5	169533358	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	28944870	169533358	11381902	23	17633											
BEND3	57673	broad.mit.edu	37	chr6	107391897	107391897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcaggagccgcagtgaCgaggggctgttgctggcgtt	6	10	16	9	3	2	1	2	1	0	0	2	3	2	2	1	4	2	5	1	4	0	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr6:107391897C>T	ENST00000369042.1	-	4	688	c.498G>A	c.(496-498)tcG>tcA	p.S166S	BEND3_ENST00000429433.2_Silent_p.S166S			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	166										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCGCAGTGACGAGGGGCTGT	0.567																																						uc003prs.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(496-498)tcG>tcA		Homo sapiens BEN domain containing 3 (BEND3), mRNA.							95	88	90					6																	107391897		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391897C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.498G>A	6.37:g.107391897C>T							p.S166S	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			4	1148	-			166					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.498G>A	CCDS34507.1																																																																																				0.567	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		T	107391897	C	T	107391897	2	4	248	1	0	0	0	0	0	0	0	1	1399	523	19	1		1	BEND3	6	107391897	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		107391897	63723170	24	17634											
ANKIB1	54467	broad.mit.edu	37	chr7	91991520	91991520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccttggtgaagcacaTgagccttgtgactgccaaac	10	9	12	10	0	0	3	0	3	0	0	0	4	0	3	3	1	5	1	3	1	2	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:91991520T>A	ENST00000265742.3	+	10	1795	c.1419T>A	c.(1417-1419)caT>caA	p.H473Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	473							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAGCACATGAGCCTTGTG	0.368																																						uc003ulw.2																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(1417-1419)caT>caA		Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.							75	69	71					7																	91991520		1841	4097	5938	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91991520T>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1419T>A	7.37:g.91991520T>A	ENSP00000265742:p.His473Gln						p.H473Q	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1795	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		473					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1419T>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198979	0.79015	.	.	ENSG00000001629	ENST00000265742	D	0.89875	-2.58	4.93	1.28	0.21552	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	H	0.96398	3.815	0.45087	D	0.998103	D	0.76494	0.999	D	0.73380	0.98	D	0.93085	0.6495	10	0.87932	D	0	.	7.438	0.27166	0.0:0.2495:0.0:0.7505	.	473	Q9P2G1	AKIB1_HUMAN	Q	473	ENSP00000265742:H473Q	ENSP00000265742:H473Q	H	+	3	2	ANKIB1	91829456	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.326000	0.23384	0.533000	0.62120	CAT		0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			A	91991520	T	A	91991520	3	1	248	1	0	0	0	0	1	0	0	0	630	1461	51	5	1453	5	ANKIB1	7	91991520	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		91991520	67147143	25	17635											
PRSS37	136242	broad.mit.edu	37	chr7	141536273	141536273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgacgtcccctcccatGaagtgccccacctcgattcc	7	8	7	19	3	0	1	0	1	0	0	4	3	3	1	8	0	2	0	8	0	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:141536273G>T	ENST00000350549.3	-	5	1001	c.630C>A	c.(628-630)ttC>ttA	p.F210L	PRSS37_ENST00000438520.1_Missense_Mutation_p.F210L	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CCCCTCCCATGAAGTGCCCCA	0.512																																						uc003vws.2																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.(628-630)ttC>ttA		Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.							182	151	161					7																	141536273		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536273G>T		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.630C>A	7.37:g.141536273G>T	ENSP00000297767:p.Phe210Leu					PRSS37_uc011krl.2_Missense_Mutation_p.F209L|PRSS37_uc011krk.2_Missense_Mutation_p.F197L|PRSS37_uc003vwt.2_Missense_Mutation_p.F197L	p.F210L	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN			4	1002	-			210			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.630C>A	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604419	0.46423	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.88431	-2.38;-2.38	5.28	4.38	0.52667	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000014	D	0.88066	0.6337	L	0.51422	1.61	0.36014	D	0.83829	B;B	0.29766	0.256;0.256	B;B	0.42062	0.374;0.374	D	0.89532	0.3786	10	0.72032	D	0.01	.	9.952	0.41645	0.0937:0.0:0.9063:0.0	.	209;210	B7ZMK3;A4D1T9	.;PRS37_HUMAN	L	210	ENSP00000297767:F210L;ENSP00000414461:F210L	ENSP00000297767:F210L	F	-	3	2	PRSS37	141182742	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	2.586000	0.46119	2.761000	0.94854	0.585000	0.79938	TTC		0.512	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		T	141536273	G	T	141536273	3	4	248	1	0	0	0	0	1	0	0	0	12626	1281	45	5	81	5	PRSS37	7	141536273	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	49544753	141536273	17602390	26	17636											
DOCK5	80005	broad.mit.edu	37	chr8	25199986	25199986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcagaaacttaactgcatGaccaagatagtagagagcac	16	6	10	9	1	0	4	0	1	0	3	0	5	0	4	1	1	4	4	1	1	5	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:25199986G>C	ENST00000276440.7	+	25	2624	c.2580G>C	c.(2578-2580)atG>atC	p.M860I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	860					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTAACTGCATGACCAAGATAG	0.468																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2578-2580)atG>atC		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							107	86	93					8																	25199986		2202	4300	6502	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25199986G>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2580G>C	8.37:g.25199986G>C	ENSP00000276440:p.Met860Ile					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.3_Missense_Mutation_p.M430I|DOCK5_uc003xej.3_Non-coding_Transcript	p.M860I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	24	2717	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	860					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2580G>C	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.71|11.71	1.719505|1.719505	0.30503|0.30503	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.61392	.|0.11	4.58|4.58	4.58|4.58	0.56647|0.56647	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41926|0.41926	0.1180|0.1180	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999983|0.999983	.|B;B;B	.|0.14438	.|0.003;0.003;0.01	.|B;B;B	.|0.12156	.|0.007;0.007;0.007	T|T	0.33189|0.33189	-0.9878|-0.9878	5|10	.|0.02654	.|T	.|1	.|.	15.7244|15.7244	0.77743|0.77743	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|850;635;860	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	H|I	632|860	.|ENSP00000276440:M860I	.|ENSP00000276440:M860I	D|M	+|+	1|3	0|0	DOCK5|DOCK5	25255903|25255903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.229000|9.229000	0.95273|0.95273	2.353000|2.353000	0.79882|0.79882	0.551000|0.551000	0.68910|0.68910	GAC|ATG		0.468	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		C	25199986	G	C	25199986	3	2	248	1	0	0	0	0	1	0	0	0	4690	1290	45	5	2678	5	DOCK5	8	25199986	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		25199986	121164036	27	17637											
POTEA	340441	broad.mit.edu	37	chr8	43171085	43171085	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaaaggcttaaaggaaGtgaaaatagtcagcatgagg	17	6	12	6	0	1	2	1	2	0	0	1	3	1	3	1	3	1	2	1	3	7	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:43171085G>C	ENST00000522175.2	+	0	820							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTAAAGGAAGTGAAAATAGT	0.303																																						uc003xpz.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(955-957)aGt>aCt		Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.							43	45	44					8																	43171085		2054	4247	6301			340441							g.chr8:43171085G>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43171085G>C						POTEA_uc003xqa.1_Missense_Mutation_p.S273T	p.S319T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			6	999	+			319					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.956G>C																																																																																					0.303	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		C	43171085	G	C	43171085	1	2	248	0	1	0	0	0	0	0	0	0	12261	1029	36	5		5	POTEA	8	43171085	RNA	SNP	G	TCGA-41-3915-01A-01D-1353-08	17971099	43171085	103192937	28	17638											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18574217	18574217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggtcttagatggtacgCgttgctatacagaatctttg	10	14	10	7	2	2	2	0	0	2	2	2	2	2	2	0	2	3	3	0	2	6	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:18574217C>T	ENST00000380548.4	+	4	766	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R143C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	143						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGATGGTACGCGTTGCTATAC	0.438																																						uc003zne.4																			0		p.T142M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(427-429)Cgt>Tgt		Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.							230	191	204					9																	18574217		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18574217C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.427C>T	9.37:g.18574217C>T	ENSP00000369921:p.Arg143Cys					ADAMTSL1_uc003znb.3_Missense_Mutation_p.R143C|ADAMTSL1_uc003znc.4_Missense_Mutation_p.R143C	p.R143C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	3	579	+			143					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.427C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739162	0.89573	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.59364	3.84;0.27;0.27;0.27;0.27;0.27	5.55	4.61	0.57282	.	.	.	.	.	T	0.80093	0.4560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84259	0.0482	9	0.72032	D	0.01	.	15.7681	0.78143	0.1368:0.8632:0.0:0.0	.	143;143	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	C	143	ENSP00000369921:R143C;ENSP00000327887:R143C;ENSP00000401157:R143C;ENSP00000369944:R143C;ENSP00000369940:R143C;ENSP00000276935:R143C	ENSP00000276935:R143C	R	+	1	0	ADAMTSL1	18564217	1.000000	0.71417	0.947000	0.38551	0.995000	0.86356	4.795000	0.62489	2.620000	0.88729	0.643000	0.83706	CGT		0.438	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18574217	C	T	18574217	3	4	248	1	0	0	0	0	1	0	0	0	274	768	27	1	441	1	ADAMTSL1	9	18574217	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		18574217	122639214	29	17639											
IFNW1	3467	broad.mit.edu	37	chr9	21141168	21141168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcagggctgctaattgcCccagcagattctccttctcc	7	11	9	14	0	2	1	0	0	2	1	4	1	2	1	4	1	4	4	4	1	1	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:21141168C>T	ENST00000380229.2	-	1	976	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	134					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCTAATTGCCCCAGCAGATT	0.527																																						uc003zol.1																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(400-402)ggG>ggA		Homo sapiens interferon, omega 1 (IFNW1), mRNA.							85	78	80					9																	21141168		2203	4300	6503	SO:0001819	synonymous_variant	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141168C>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.402G>A	9.37:g.21141168C>T							p.G134G	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	0	977	-			134					Q13168|Q5U802|Q5VWD0|Q7M4P5	Silent	SNP	ENST00000380229.2	37	c.402G>A	CCDS6496.1																																																																																				0.527	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		T	21141168	C	T	21141168	2	4	248	1	0	0	0	0	0	0	0	1	7552	610	22	3		3	IFNW1	9	21141168	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	2566951	21141168	120072263	30	17640											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674960	130674960	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcgcggaccagcggCtgcagggcaggcagggagaa	9	2	19	11	3	0	1	0	0	0	1	1	3	0	2	1	6	2	5	1	6	1	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:130674960C>A	ENST00000335791.5	-	4	474		c.e4-1		ST6GALNAC4_ENST00000343609.2_Splice_Site|ST6GALNAC4_ENST00000495983.1_Splice_Site	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4						cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGACCAGCGGCTGCAGGGCAG	0.632																																						uc004bss.3																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.e4-1		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.							10	9	10					9																	130674960		2181	4272	6453	SO:0001630	splice_region_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674960C>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.199-1G>T	9.37:g.130674960C>A						ST6GALNAC4_uc004bst.3_Splice_Site	p.P67_splice	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN			4	475	-			67					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Splice_Site	SNP	ENST00000335791.5	37	c.199_splice	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560470	0.45590	.	.	ENSG00000136840	ENST00000335791	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2136	0.89878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST6GALNAC4	129714781	1.000000	0.71417	0.996000	0.52242	0.311000	0.27955	7.221000	0.78016	2.614000	0.88457	0.561000	0.74099	.		0.632	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040	Intron	A	130674960	C	A	130674960	5	1	248	1	0	0	0	0	0	0	1	0	15225	811	28	5	722	5	ST6GALNAC4	9	130674960	Splice_Site	SNP	C	TCGA-41-3915-01A-01D-1353-08	109533792	130674960	10538471	31	17641											
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	13	10	14	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292|rs121909229		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)cGa>cAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							139	129	133					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130Q	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1421	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.389G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692905	G	A	89692905	3	1	248	1	0	0	0	0	1	0	0	0	12738	1058	37	2	407	2	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		89692905	45841842	32	17642											
PDZD7	79955	broad.mit.edu	37	chr10	102789812	102789812	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgaggctcggattccgcgGgggggcccgttcagcagccg	5	6	18	12	5	1	1	1	1	0	0	3	3	2	2	3	5	2	3	3	5	0	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:102789812G>T	ENST00000370215.3	-	2	390	c.165C>A	c.(163-165)ccC>ccA	p.P55P	PDZD7_ENST00000470414.1_Silent_p.P55P|SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	55						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGATTCCGCGGGGGGGCCCGT	0.662																																						uc001ksn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(163-165)ccC>ccA		Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.							50	59	56					10																	102789812		2203	4300	6503	SO:0001819	synonymous_variant	79955					cilium|nucleus	protein binding	g.chr10:102789812G>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.165C>A	10.37:g.102789812G>T						PDZD7_uc021pxc.1_Silent_p.P55P|PDZD7_uc001kso.2_Silent_p.P55P|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	p.P55P	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	1	415	-			55					D5FJ77|Q8N321	Silent	SNP	ENST00000370215.3	37	c.165C>A	CCDS31269.1																																																																																				0.662	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		T	102789812	G	T	102789812	2	4	248	1	0	0	0	0	0	0	0	1	11704	1219	43	5		5	PDZD7	10	102789812	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	13096907	102789812	32744935	33	17643											
HPS6	79803	broad.mit.edu	37	chr10	103827208	103827208	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggatgctggcctggccctCggcccctccagtcccctgct	2	9	11	19	1	0	0	0	0	0	0	3	1	2	1	7	4	2	2	7	4	0	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:103827208C>G	ENST00000299238.5	+	1	2062	c.1977C>G	c.(1975-1977)ctC>ctG	p.L659L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	659					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCTGGCCCTCGGCCCCTCCA	0.617									Hermansky-Pudlak syndrome																													uc001kuj.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1975-1977)ctC>ctG		Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.							63	70	67					10																	103827208		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103827208C>G	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1977C>G	10.37:g.103827208C>G							p.L659L	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	0	2085	+		Colorectal(252;0.122)	659					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.1977C>G	CCDS7527.1																																																																																				0.617	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		G	103827208	C	G	103827208	2	3	248	1	0	0	0	0	0	0	0	1	7343	871	31	5		5	HPS6	10	103827208	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	1037396	103827208	31707539	34	17644											
KIAA1598	57698	broad.mit.edu	37	chr10	118728190	118728190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcttccagttttttaaCggcttcatctcgttcttgcc	7	18	5	11	2	4	0	1	0	3	0	6	0	5	0	2	1	2	3	2	1	2	8			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:118728190C>T	ENST00000355371.4	-	3	642	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.V49I|KIAA1598_ENST00000260777.10_Missense_Mutation_p.V49I	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	49					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGTTTTTTAACGGCTTCATCT	0.323																																						uc021pzk.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(145-147)Gtt>Att		Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.							132	118	123					10																	118728190		2201	4297	6498	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118728190C>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.145G>A	10.37:g.118728190C>T	ENSP00000347532:p.Val49Ile					KIAA1598_uc009xyw.3_Missense_Mutation_p.V49I|KIAA1598_uc001lcz.4_Missense_Mutation_p.V49I|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Missense_Mutation_p.V19I	p.V49I	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	2	643	-			49					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.145G>A	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536492	0.45176	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.90844	-2.74;-2.74;-2.74	5.64	3.8	0.43715	.	0.394276	0.26824	N	0.022302	D	0.89217	0.6652	N	0.24115	0.695	0.80722	D	1	B;B;D	0.71674	0.178;0.025;0.998	B;B;P	0.58130	0.025;0.006;0.833	D	0.88407	0.3019	10	0.48119	T	0.1	-4.9395	12.4516	0.55681	0.0:0.8639:0.0:0.1361	.	49;49;19	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	I	49	ENSP00000376636:V49I;ENSP00000260777:V49I;ENSP00000347532:V49I	ENSP00000260777:V49I	V	-	1	0	KIAA1598	118718180	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	1.256000	0.32921	0.856000	0.35383	-0.145000	0.13849	GTT		0.323	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		T	118728190	C	T	118728190	3	4	248	1	0	0	0	0	1	0	0	0	8246	536	19	1	1810	1	KIAA1598	10	118728190	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	14900982	118728190	16806557	35	17645											
SYCE1	93426	broad.mit.edu	37	chr10	135370273	135370273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggactcacgtggaagtccCagaggtccttgtgctggccc	7	8	14	12	1	1	1	1	0	0	1	3	3	3	3	3	4	1	1	3	4	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:135370273C>A	ENST00000343131.5	-	8	622	c.518G>T	c.(517-519)tGg>tTg	p.W173L	SYCE1_ENST00000432597.2_Missense_Mutation_p.W137L|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.W137L	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	173					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTGGAAGTCCCAGAGGTCCTT	0.567																																						uc001lno.2																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(517-519)tGg>tTg		Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.							83	71	75					10																	135370273		2200	4290	6490	SO:0001583	missense	93426				cell division	central element		g.chr10:135370273C>A	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.518G>T	10.37:g.135370273C>A	ENSP00000341282:p.Trp173Leu					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	p.W173L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	623	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	173					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.518G>T	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145200	0.37825	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.4	2.29	0.28610	.	0.279671	0.31697	N	0.007217	T	0.25195	0.0612	L	0.55481	1.735	0.23304	N	0.997943	B;B;B	0.12013	0.004;0.005;0.002	B;B;B	0.14578	0.006;0.011;0.004	T	0.17653	-1.0362	10	0.42905	T	0.14	0.3368	6.5646	0.22505	0.2656:0.5498:0.1846:0.0	.	45;173;137	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	L	173;137;137;173	ENSP00000303978:W173L;ENSP00000411779:W137L;ENSP00000357503:W137L;ENSP00000341282:W173L	ENSP00000303978:W173L	W	-	2	0	SYCE1	135220263	1.000000	0.71417	0.996000	0.52242	0.808000	0.45660	0.923000	0.28757	0.604000	0.29930	0.655000	0.94253	TGG		0.567	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		A	135370273	C	A	135370273	3	1	248	1	0	0	0	0	1	0	0	0	15425	595	21	5	604	5	SYCE1	10	135370273	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	16642083	135370273	164474	36	17646											
DENND5A	23258	broad.mit.edu	37	chr11	9171674	9171674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcaggtgtctggaaaGtaactttttttccatggaca	9	15	9	8	0	2	0	1	0	1	0	3	2	3	2	1	3	2	2	1	3	2	5			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:9171674G>A	ENST00000328194.3	-	15	3009	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DENND5A_ENST00000530044.1_Missense_Mutation_p.L897F|DENND5A_ENST00000527700.1_Missense_Mutation_p.L240F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	897	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCTGGAAAGTAACTTTTTT	0.517																																						uc001mhl.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2689-2691)Ctt>Ttt		Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.							121	103	109					11																	9171674		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9171674G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2689C>T	11.37:g.9171674G>A	ENSP00000328524:p.Leu897Phe					DENND5A_uc001mhk.3_Missense_Mutation_p.L240F|DENND5A_uc010rbw.2_Missense_Mutation_p.L897F|DENND5A_uc010rbx.2_Non-coding_Transcript	p.L897F	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			14	2946	-			897			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2689C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283908|5.283908	0.95489|0.95489	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	6.08|6.08	6.08|6.08	0.98989|0.98989	RUN (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78394|0.78394	0.4276|0.4276	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.987;1.0|.	T|T	0.75575|0.75575	-0.3270|-0.3270	10|5	0.87932|.	D|.	0|.	.|.	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	897;897|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	F|I	897;897;240|67	ENSP00000328524:L897F;ENSP00000435866:L897F;ENSP00000432549:L240F|.	ENSP00000328524:L897F|.	L|T	-|-	1|2	0|0	DENND5A|DENND5A	9128250|9128250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	8.006000|8.006000	0.88564|0.88564	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.517	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		A	9171674	G	A	9171674	3	1	248	1	0	0	0	0	1	0	0	0	4436	1029	36	3	1210	3	DENND5A	11	9171674	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		9171674	125834842	37	17647											
OR4C11	219429	broad.mit.edu	37	chr11	55371464	55371464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatgatggttgggtaaCgcaagggcttacagatggcc	9	9	15	8	1	1	2	1	1	0	1	1	2	1	2	1	5	2	5	1	5	3	3	rs146220981	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:55371464C>T	ENST00000302231.4	-	1	410	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGTTGGGTAACGCAAGGGCTT	0.458																																						uc010rii.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(385-387)cGt>cAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.		C	HIS/ARG	2,4352		1,0,2176	89	74	79		386	-7	0	11	dbSNP_134	79	0,8016		0,0,4008	yes	missense	OR4C11	NM_001004700.2	29	1,0,6184	TT,TC,CC		0.0,0.0459,0.0162	benign	129/311	55371464	2,12368	2177	4008	6185	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371464C>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.386G>A	11.37:g.55371464C>T	ENSP00000306651:p.Arg129His						p.R129H	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			0	411	-			129					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.386G>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.092162	0.00364	4.59E-4	0.0	ENSG00000172188	ENST00000302231	T	0.00669	5.9	4.34	-7.04	0.01578	GPCR, rhodopsin-like superfamily (1);	0.442679	0.19111	N	0.122442	T	0.00271	0.0008	N	0.00652	-1.29	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32666	-0.9898	10	0.02654	T	1	.	14.9372	0.70967	0.0:0.1691:0.0:0.8309	.	129	Q6IEV9	OR4CB_HUMAN	H	129	ENSP00000306651:R129H	ENSP00000306651:R129H	R	-	2	0	OR4C11	55128040	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.808000	0.00097	-1.571000	0.01663	-0.357000	0.07601	CGT		0.458	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		T	55371464	C	T	55371464	3	4	248	1	0	0	0	0	1	0	0	0	11045	536	19	1	548	1	OR4C11	11	55371464	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	46199790	55371464	79635052	38	17648											
PRG2	5553	broad.mit.edu	37	chr11	57156544	57156544	+	Missense_Mutation	SNP	G	G	A																															agcggcaggtctggcacccaGggatgcccaccacttttact																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156544G>A	ENST00000311862.5	-	3	378	c.305C>T	c.(304-306)cCt>cTt	p.P102L	PRG2_ENST00000533605.1_Missense_Mutation_p.P102L|PRG2_ENST00000525955.1_Missense_Mutation_p.P102L|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.P207L	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	102					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CTGGCACCCAGGGATGCCCAC	0.532																																						uc001nkc.3																			0		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(304-306)cCt>cTt		Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.							107	97	101					11																	57156544		2201	4296	6497	SO:0001583	missense	5553				transmembrane transport	integral to membrane		g.chr11:57156544G>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.305C>T	11.37:g.57156544G>A	ENSP00000312134:p.Pro102Leu					SLC43A3_uc001nkd.3_Missense_Mutation_p.P102L|SLC43A3_uc001nke.3_Missense_Mutation_p.P382L	p.P102L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN			2	379	-			0					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.305C>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464840	0.63513	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.54479	0.98;2.72;0.98;0.57	5.34	4.37	0.52481	C-type lectin (1);	0.442616	0.19090	N	0.122991	T	0.65923	0.2738	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.916;0.974	T	0.56902	-0.7902	10	0.87932	D	0	.	11.1508	0.48458	0.0:0.1862:0.8138:0.0	.	102;102	A6XMW0;P13727	.;PRG2_HUMAN	L	102;102;102;207	ENSP00000312134:P102L;ENSP00000433231:P102L;ENSP00000433016:P102L;ENSP00000431536:P207L	ENSP00000312134:P102L	P	-	2	0	RP11-872D17.8;PRG2	56913120	0.004000	0.15560	0.119000	0.21687	0.062000	0.15995	1.301000	0.33447	2.489000	0.83994	0.561000	0.74099	CCT		0.532	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		A	57156544	G	A	57156544	3	1	248	1	0	0	0	0	1	0	0	0	12479	1000	35	3	379	3	PRG2	11	57156544	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1785080	57156544	77849972	39	17649	22	2									
PRG2	5553	broad.mit.edu	37	chr11	57156546	57156546	+	Silent	SNP	G	G	A																															cggcaggtctggcacccaggGatgcccaccacttttactgt																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156546G>A	ENST00000311862.5	-	3	376	c.303C>T	c.(301-303)atC>atT	p.I101I	PRG2_ENST00000533605.1_Silent_p.I101I|PRG2_ENST00000525955.1_Silent_p.I101I|RP11-872D17.8_ENST00000529411.1_Silent_p.I206I	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	101					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GGCACCCAGGGATGCCCACCA	0.537																																						uc001nkc.3																			0		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(301-303)atC>atT		Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.							113	102	106					11																	57156546		2201	4296	6497	SO:0001819	synonymous_variant	5553				transmembrane transport	integral to membrane		g.chr11:57156546G>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.303C>T	11.37:g.57156546G>A						SLC43A3_uc001nkd.3_Silent_p.I101I|SLC43A3_uc001nke.3_Silent_p.I381I	p.I101I	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN			2	377	-			0					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000311862.5	37	c.303C>T	CCDS7955.1																																																																																				0.537	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		A	57156546	G	A	57156546	2	1	248	1	0	0	0	0	0	0	0	1	12479	1164	41	3		3	PRG2	11	57156546	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	2	57156546	77849970	40	17650	22	2									
MS4A14	84689	broad.mit.edu	37	chr11	60184319	60184319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattccaaaatgttcaagcCgaaggacagcaagctcaggt	15	7	9	10	1	2	0	2	0	0	0	3	2	3	1	2	2	3	3	2	2	6	2	rs147367847	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:60184319C>T	ENST00000300187.6	+	5	2155	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	MS4A14_ENST00000531787.1_Silent_p.A514A|MS4A14_ENST00000531783.1_Silent_p.A659A|MS4A14_ENST00000395005.2_Silent_p.A609A	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	626	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATGTTCAAGCCGAAGGACAGC	0.458													C|||	3	0.000599042	0	0.0029	5008	,	,		22341	0		0.001	False		,,,				2504	0					uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1876-1878)gcC>gcT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.		C	,	4,4402	8.1+/-20.4	0,4,2199	67	64	65		1827,1878	-6	0	11	dbSNP_134	65	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous,coding-synonymous	MS4A14	NM_001079692.1,NM_032597.3	,	0,20,6483	TT,TC,CC		0.186,0.0908,0.1538	,	609/663,626/680	60184319	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60184319C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1878C>T	11.37:g.60184319C>T						MS4A14_uc001npi.3_Silent_p.A514A|MS4A14_uc001npn.3_Silent_p.A364A|MS4A14_uc001npk.3_Silent_p.A609A|MS4A14_uc001npl.3_Silent_p.A364A|MS4A14_uc001npm.3_Silent_p.A364A	p.A626A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	2443	+			626			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1878C>T	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			T	60184319	C	T	60184319	2	4	248	1	0	0	0	0	0	0	0	1	9858	639	23	2		2	MS4A14	11	60184319	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	3027773	60184319	74822197	41	17651											
MEN1	4221	broad.mit.edu	37	chr11	64572600	64572600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctcccatttgcagatgCcgtcgtagaatcgcagcagg	8	9	10	14	3	0	2	0	0	0	2	4	2	2	2	4	1	3	4	4	1	2	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:64572600C>T	ENST00000337652.1	-	9	1774	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	MEN1_ENST00000377316.2_Intron|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.G419D|MEN1_ENST00000394374.2_Missense_Mutation_p.G424D|MEN1_ENST00000312049.6_Missense_Mutation_p.G419D|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_Missense_Mutation_p.G424D|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.G424D|MEN1_ENST00000315422.4_Missense_Mutation_p.G419D|MEN1_ENST00000377321.1_Missense_Mutation_p.G384D|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.G424D	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	424			Missing (in MEN1).		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.L414_E425del(1)|p.G419fs*26(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TTTGCAGATGCCGTCGTAGAA	0.637			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.3			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		2	Deletion - Frameshift(1)|Deletion - In frame(1)	p.L414_E425del(2)|p.G419fs*26(1)	parathyroid(2)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1270-1272)gGc>gAc		Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.							86	75	79					11																	64572600		2201	4297	6498	SO:0001583	missense	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572600C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1271G>A	11.37:g.64572600C>T	ENSP00000337088:p.Gly424Asp					MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.G424D|MEN1_uc001obl.3_Missense_Mutation_p.G384D|MEN1_uc001obm.3_Missense_Mutation_p.G419D|MEN1_uc001obn.3_Missense_Mutation_p.G424D|MEN1_uc001obo.3_Missense_Mutation_p.G424D|MEN1_uc001obq.3_Missense_Mutation_p.G424D|MEN1_uc001obr.3_Missense_Mutation_p.G424D	p.G424D	NM_130800	NP_570716	O00255	MEN1_HUMAN			8	1344	-			424		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1271G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044483	0.93685	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	3.71	3.71	0.42584	.	0.270585	0.35525	N	0.003142	D	0.99616	0.9860	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.964;0.999;0.979	D	0.97268	0.9909	10	0.87932	D	0	-25.3535	13.4541	0.61189	0.0:1.0:0.0:0.0	.	419;384;424	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	D	384;419;419;419;424;424;424;424;424	ENSP00000366538:G384D;ENSP00000366543:G419D;ENSP00000308975:G419D;ENSP00000323747:G419D;ENSP00000337088:G424D;ENSP00000377901:G424D;ENSP00000377899:G424D;ENSP00000396940:G424D;ENSP00000366530:G424D	ENSP00000308975:G419D	G	-	2	0	MEN1	64329176	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.770000	0.74990	2.104000	0.64026	0.456000	0.33151	GGC		0.637	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			T	64572600	C	T	64572600	3	4	248	1	0	0	0	0	1	0	0	0	9472	739	26	3	584	3	MEN1	11	64572600	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	4388281	64572600	70433916	42	17652											
KDM4DL	390245	broad.mit.edu	37	chr11	94758834	94758834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcttacatggagtcccAaggcgcacatcaagctggcc	9	9	11	12	1	1	0	1	0	0	0	2	1	2	1	2	3	3	4	2	3	3	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:94758834A>G	ENST00000450979.2	+	1	413	c.113A>G	c.(112-114)cAa>cGa	p.Q38R		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	38	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						ATGGAGTCCCAAGGCGCACAT	0.463																																						uc010ruf.1																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(112-114)cAa>cGa		Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.							88	67	74					11																	94758834		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94758834A>G	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.113A>G	11.37:g.94758834A>G	ENSP00000397239:p.Gln38Arg						p.Q38R	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			0	413	+			38			JmjN.			Missense_Mutation	SNP	ENST00000450979.2	37	c.113A>G	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	a	9.063	0.994939	0.19043	.	.	ENSG00000235268	ENST00000450979	T	0.22743	1.94	2.18	2.18	0.27775	Transcription factor jumonji, JmjN (2);	.	.	.	.	T	0.25754	0.0627	M	0.67700	2.07	0.26207	N	0.979355	B	0.32918	0.39	B	0.40134	0.32	T	0.15896	-1.0421	9	0.27785	T	0.31	-16.3977	8.2694	0.31836	1.0:0.0:0.0:0.0	.	38	B2RXH2	KD4DL_HUMAN	R	38	ENSP00000397239:Q38R	ENSP00000397239:Q38R	Q	+	2	0	KDM4DL	94398482	0.990000	0.36364	0.509000	0.27700	0.540000	0.34992	6.311000	0.72835	1.264000	0.44198	0.374000	0.22700	CAA		0.463	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		G	94758834	A	G	94758834	3	3	248	1	0	0	0	0	1	0	0	0	8132	130	5	4	115	4	KDM4DL	11	94758834	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	30186234	94758834	40247682	43	17653											
ATM	472	broad.mit.edu	37	chr11	108183214	108183214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtaaagaagaaactggaAtaagtttacaggtaaatatt	21	10	8	2	0	0	2	0	0	0	2	0	3	0	3	0	2	2	3	0	2	11	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:108183214A>G	ENST00000452508.2	+	41	6184	c.5995A>G	c.(5995-5997)Ata>Gta	p.I1999V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.I1999V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1999	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGAAACTGGAATAAGTTTACA	0.328			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5995-5997)Ata>Gta	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							75	86	82					11																	108183214		2201	4294	6495	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108183214A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5995A>G	11.37:g.108183214A>G	ENSP00000388058:p.Ile1999Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	p.I1999V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	39	6380	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1999			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5995A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135058	0.37728	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01495	4.83;4.83	5.2	5.2	0.72013	PIK-related kinase (1);Armadillo-type fold (1);	0.042935	0.85682	D	0.000000	T	0.02970	0.0088	M	0.65975	2.015	0.80722	D	1	P;B	0.38922	0.651;0.168	B;B	0.37387	0.248;0.075	T	0.58891	-0.7556	10	0.18710	T	0.47	.	12.4848	0.55866	0.8608:0.1392:0.0:0.0	.	651;1999	E9PFP9;Q13315	.;ATM_HUMAN	V	1999	ENSP00000278616:I1999V;ENSP00000388058:I1999V	ENSP00000278616:I1999V	I	+	1	0	ATM	107688424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.657000	0.46724	2.090000	0.63153	0.460000	0.39030	ATA		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108183214	A	G	108183214	3	3	248	1	0	0	0	0	1	0	0	0	1109	101	4	4	6149	4	ATM	11	108183214	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	13424380	108183214	26823302	44	17654											
IFLTD1	160492	broad.mit.edu	37	chr12	25699396	25699396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgtgctgtaagtttctTtgaatcaccaaacaaagaaa	15	12	8	6	0	2	3	1	2	1	1	2	3	2	3	1	0	2	3	1	0	5	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:25699396T>C	ENST00000282881.6	-	3	489	c.340A>G	c.(340-342)Aag>Gag	p.K114E	IFLTD1_ENST00000458174.2_Missense_Mutation_p.K135E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K135E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K51E|IFLTD1_ENST00000539744.1_Missense_Mutation_p.K17E	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		114					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTAAGTTTCTTTGAATCACCA	0.373																																						uc010sji.1																			0		p.L134F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(403-405)Aag>Gag		Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.							91	86	88					12																	25699396		2203	4299	6502	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25699396T>C																												ENST00000282881.6:c.340A>G	12.37:g.25699396T>C	ENSP00000282881:p.Lys114Glu					IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc001rgs.2_Missense_Mutation_p.K114E|IFLTD1_uc010sjj.2_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	p.K135E	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN			3	648	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		114					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.403A>G	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081917	0.36758	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.19105	2.36;2.48;2.36;2.42;2.17	4.9	2.56	0.30785	.	.	.	.	.	T	0.12135	0.0295	L	0.27053	0.805	0.20196	N	0.999928	B;B;P;B	0.40731	0.125;0.125;0.728;0.386	B;B;B;B	0.33799	0.077;0.063;0.17;0.052	T	0.14476	-1.0471	9	0.54805	T	0.06	-16.7459	6.1996	0.20569	0.0:0.1991:0.0:0.8009	.	51;135;135;114	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	114;17;135;51;135;89;89	ENSP00000282881:K114E;ENSP00000443132:K17E;ENSP00000407353:K135E;ENSP00000407043:K51E;ENSP00000393150:K135E	ENSP00000282881:K114E	K	-	1	0	IFLTD1	25590663	0.005000	0.15991	0.137000	0.22149	0.869000	0.49853	0.320000	0.19540	0.458000	0.26988	0.533000	0.62120	AAG		0.373	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			C	25699396	T	C	25699396	3	2	248	1	0	0	0	0	1	0	0	0	7530	1850	64	4	850	4	IFLTD1	12	25699396	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		25699396	108152499	45	17655											
CPNE8	144402	broad.mit.edu	37	chr12	39268300	39268300	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttagaaaatgtgtctcTgtcaagaagatttctgttga	13	15	9	4	0	3	5	1	1	2	4	4	5	3	5	0	0	0	1	0	0	5	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:39268300T>A	ENST00000331366.5	-	2	208	c.112A>T	c.(112-114)Aga>Tga	p.R38*	CPNE8_ENST00000360449.3_Nonsense_Mutation_p.R26*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	38	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AATGTGTCTCTGTCAAGAAGA	0.264																																						uc001rls.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(112-114)Aga>Tga		Homo sapiens copine VIII (CPNE8), mRNA.							46	52	50					12																	39268300		2203	4298	6501	SO:0001587	stop_gained	144402							g.chr12:39268300T>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.112A>T	12.37:g.39268300T>A	ENSP00000329748:p.Arg38*						p.R38*	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			1	196	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	38			C2 1.		Q2TB41|Q86VY2	Nonsense_Mutation	SNP	ENST00000331366.5	37	c.112A>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	T	35	5.533873	0.96460	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	.	.	.	4.43	3.25	0.37280	.	0.063001	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.5051	8.4004	0.32583	0.0:0.0:0.199:0.801	.	.	.	.	X	38;26	.	ENSP00000329748:R38X	R	-	1	2	CPNE8	37554567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.111000	0.57838	0.782000	0.33613	0.477000	0.44152	AGA		0.264	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		A	39268300	T	A	39268300	4	1	248	1	0	0	0	0	0	1	0	0	3818	1588	55	5	1658	5	CPNE8	12	39268300	Nonsense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	13568904	39268300	94583595	46	17656											
DIP2B	57609	broad.mit.edu	37	chr12	51102260	51102260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttctgtgtctgtattttAtgatgagcgcattgtggtgg	5	19	13	4	1	2	2	0	2	2	0	2	2	2	2	0	2	1	3	0	2	2	6			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:51102260A>G	ENST00000301180.5	+	22	2598	c.2564A>G	c.(2563-2565)tAt>tGt	p.Y855C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	855						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTGTATTTTATGATGAGCGC	0.448																																						uc001rwv.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(2563-2565)tAt>tGt		Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.							291	211	238					12																	51102260		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51102260A>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2564A>G	12.37:g.51102260A>G	ENSP00000301180:p.Tyr855Cys					DIP2B_uc009zlt.3_Missense_Mutation_p.Y285C	p.Y855C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			21	2720	+			855					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.2564A>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.868040	0.72065	.	.	ENSG00000066084	ENST00000301180	T	0.10860	2.83	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47716	1.5	0.80722	D	1	D	0.62365	0.991	P	0.54965	0.765	T	0.00510	-1.1697	10	0.38643	T	0.18	-14.842	14.5128	0.67800	1.0:0.0:0.0:0.0	.	855	Q9P265	DIP2B_HUMAN	C	855	ENSP00000301180:Y855C	ENSP00000301180:Y855C	Y	+	2	0	DIP2B	49388527	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.180000	0.71981	2.279000	0.76181	0.402000	0.26972	TAT		0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51102260	A	G	51102260	3	3	248	1	0	0	0	0	1	0	0	0	4528	449	16	4	2650	4	DIP2B	12	51102260	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	11833960	51102260	82749635	47	17657											
SDR9C7	121214	broad.mit.edu	37	chr12	57324008	57324008	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagtaccagggcccagttAccttatgctgtcagagaagg	10	10	11	10	0	2	1	2	0	0	1	2	2	2	1	3	2	3	3	3	2	4	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:57324008A>G	ENST00000293502.1	-	2	704		c.e2+1			NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7						oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGTTACCTTATGCTG	0.537																																						uc010sqw.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.e2+1		Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.							114	116	115					12																	57324008		2203	4300	6503	SO:0001630	splice_region_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324008A>G	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.560+1T>C	12.37:g.57324008A>G							p.R187_splice	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			2	704	-			187					B3KVB4	Splice_Site	SNP	ENST00000293502.1	37	c.560_splice	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.172686	0.57584	.	.	ENSG00000170426	ENST00000293502	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4244	0.67204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDR9C7	55610275	1.000000	0.71417	0.990000	0.47175	0.536000	0.34869	7.442000	0.80503	2.066000	0.61787	0.528000	0.53228	.		0.537	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897	Intron	G	57324008	A	G	57324008	5	3	248	1	0	0	0	0	0	0	1	0	13974	405	14	4	391	4	SDR9C7	12	57324008	Splice_Site	SNP	A	TCGA-41-3915-01A-01D-1353-08	6221748	57324008	76527887	48	17658											
TUBA3C	7278	broad.mit.edu	37	chr13	19748215	19748215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccgcgatggccgtggTgttgctcagcatgcacacag	6	8	14	13	3	1	0	1	0	0	0	2	1	2	0	3	3	3	4	3	3	0	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr13:19748215T>A	ENST00000400113.3	-	5	1245	c.1141A>T	c.(1141-1143)Acc>Tcc	p.T381S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	381					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATGGCCGTGGTGTTGCTCAGC	0.627																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1141-1143)Acc>Tcc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							90	80	83					13																	19748215		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748215T>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1141A>T	13.37:g.19748215T>A	ENSP00000382982:p.Thr381Ser						p.T381S	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	1246	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	381					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1141A>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	10.23	1.293585	0.23564	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.83163	-1.69	1.22	-0.131	0.13494	.	0.000000	0.48286	U	0.000185	T	0.79221	0.4409	.	.	.	0.34214	D	0.674588	.	.	.	.	.	.	T	0.76152	-0.3064	7	0.45353	T	0.12	.	4.6562	0.12618	0.0:0.2066:0.0:0.7934	.	.	.	.	S	381	ENSP00000382982:T381S	ENSP00000354037:T381S	T	-	1	0	TUBA3C	18646215	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	4.871000	0.63042	-0.026000	0.13895	0.163000	0.16589	ACC		0.627	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		A	19748215	T	A	19748215	3	1	248	1	0	0	0	0	1	0	0	0	16743	1696	59	5	215	5	TUBA3C	13	19748215	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		19748215	95421663	49	17659											
AHNAK2	113146	broad.mit.edu	37	chr14	105413630	105413630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggctccctcgggaacgtGgccctctgggagtttcacat	5	9	13	14	3	2	0	1	0	1	0	4	2	3	2	3	4	1	2	3	4	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr14:105413630G>T	ENST00000333244.5	-	7	8277	c.8158C>A	c.(8158-8160)Cac>Aac	p.H2720N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2720						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGGAACGTGGCCCTCTGGG	0.602																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8158-8160)Cac>Aac		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							123	135	131					14																	105413630		1911	4117	6028	SO:0001583	missense	113146					nucleus		g.chr14:105413630G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8158C>A	14.37:g.105413630G>T	ENSP00000353114:p.His2720Asn					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.H2620N	p.H2720N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	8278	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2720					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8158C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	4.809	0.150409	0.09185	.	.	ENSG00000185567	ENST00000333244	T	0.00816	5.66	2.76	-1.11	0.09840	.	.	.	.	.	T	0.01124	0.0037	L	0.56280	1.765	0.09310	N	1	P	0.40578	0.722	B	0.36534	0.227	T	0.48768	-0.9006	9	0.19147	T	0.46	.	11.0637	0.47964	0.0:0.5618:0.4382:0.0	.	2720	Q8IVF2	AHNK2_HUMAN	N	2720	ENSP00000353114:H2720N	ENSP00000353114:H2720N	H	-	1	0	AHNAK2	104484675	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.431000	0.06965	-0.082000	0.12640	0.313000	0.20887	CAC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105413630	G	T	105413630	3	4	248	1	0	0	0	0	1	0	0	0	415	1348	47	5	9233	5	AHNAK2	14	105413630	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		105413630	1935910	50	17660											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118619	68118619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcgtcgcgccgctgCggcatgatcactaagcgaga	8	7	11	15	6	2	2	1	1	1	1	4	3	2	2	2	1	2	2	2	1	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:68118619C>T	ENST00000380035.2	+	2	511	c.453C>T	c.(451-453)tgC>tgT	p.C151C	SKOR1_ENST00000554240.1_Silent_p.C112C|SKOR1_ENST00000389002.1_Silent_p.C142C|SKOR1_ENST00000554054.1_Silent_p.C123C|SKOR1_ENST00000341418.5_Silent_p.C337C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	151					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCGCCGCTGCGGCATGATCA	0.662																																						uc002aqy.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(424-426)tgC>tgT		Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.							60	58	59					15																	68118619		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118619C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.453C>T	15.37:g.68118619C>T							p.C142C	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			1	426	+			151					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.426C>T																																																																																					0.662	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68118619	C	T	68118619	2	4	248	1	0	0	0	0	0	0	0	1	8655	776	27	1		1	LBXCOR1	15	68118619	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		68118619	34412773	51	17661											
ADAMTS7	11173	broad.mit.edu	37	chr15	79083051	79083051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcatggtgcaggggatggGcatcccccttcatgttgatg	6	12	14	9	0	2	1	2	1	0	0	3	2	3	2	2	4	1	3	2	4	0	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:79083051G>A	ENST00000388820.4	-	6	1199	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGGATGGGCATCCCCCTT	0.592																																						uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(988-990)gCc>gTc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							184	136	152					15																	79083051		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79083051G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.989C>T	15.37:g.79083051G>A	ENSP00000373472:p.Ala330Val					ADAMTS7_uc010und.1_Missense_Mutation_p.A330V|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330V	p.A330V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			5	1200	-			330			Peptidase M12B.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.989C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481016	0.04383	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.87103	-2.21	4.86	-1.29	0.09288	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.854880	0.02471	N	0.087547	T	0.81564	0.4849	L	0.27975	0.815	0.09310	N	1	B;B;B	0.29232	0.056;0.034;0.238	B;B;B	0.34590	0.088;0.044;0.186	T	0.67341	-0.5695	10	0.29301	T	0.29	.	9.694	0.40145	0.0:0.4852:0.2537:0.2611	.	330;330;330	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	V	330	ENSP00000373472:A330V	ENSP00000373472:A330V	A	-	2	0	ADAMTS7	76870106	0.000000	0.05858	0.006000	0.13384	0.042000	0.13812	0.879000	0.28146	-0.189000	0.10482	0.313000	0.20887	GCC		0.592	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79083051	G	A	79083051	3	1	248	1	0	0	0	0	1	0	0	0	271	1203	42	3	4147	3	ADAMTS7	15	79083051	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	10964432	79083051	23448341	52	17662											
OR4F15	390649	broad.mit.edu	37	chr15	102358715	102358715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttagccatgctcttggggGcactgagatggtgctgctca	6	12	13	10	0	2	1	1	1	1	1	2	2	2	1	1	3	4	4	1	3	1	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:102358715G>A	ENST00000332238.4	+	1	350	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCTCTTGGGGGCACTGAGATG	0.458																																						uc010uts.2																			0		p.G109G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(325-327)gGc>gAc		Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.							137	126	130					15																	102358715		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358715G>A	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.326G>A	15.37:g.102358715G>A	ENSP00000333184:p.Gly109Asp						p.G109D	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		0	326	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		109					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.326G>A	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	9.634	1.137102	0.21123	.	.	ENSG00000182854	ENST00000332238	T	0.01347	4.99	5.57	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.196730	0.36134	N	0.002776	T	0.01940	0.0061	M	0.66506	2.035	0.09310	N	1	B	0.33964	0.434	B	0.33339	0.162	T	0.42515	-0.9447	9	.	.	.	.	6.9225	0.24395	0.154:0.4244:0.4216:0.0	.	109	Q8NGB8	O4F15_HUMAN	D	109	ENSP00000333184:G109D	.	G	+	2	0	OR4F15	100176238	0.000000	0.05858	0.070000	0.20053	0.439000	0.31926	0.112000	0.15479	0.122000	0.18314	0.650000	0.86243	GGC		0.458	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		A	102358715	G	A	102358715	3	1	248	1	0	0	0	0	1	0	0	0	11061	1203	42	3	328	3	OR4F15	15	102358715	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	23275664	102358715	172677	53	17663											
ZFP3	124961	broad.mit.edu	37	chr17	4995064	4995064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagaaagaccgggagaatAatgagagtgagagaggctgc	15	5	17	4	1	0	6	0	3	0	5	0	10	0	6	1	2	1	1	1	2	3	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:4995064A>G	ENST00000318833.3	+	2	601	c.265A>G	c.(265-267)Aat>Gat	p.N89D		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCGGGAGAATAATGAGAGTGA	0.468																																						uc002gaq.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(265-267)Aat>Gat		Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.							53	54	53					17																	4995064		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4995064A>G	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.265A>G	17.37:g.4995064A>G	ENSP00000320347:p.Asn89Asp					ZFP3_uc021tog.1_Missense_Mutation_p.N89D	p.N89D	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN			1	390	+			89					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.265A>G	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	A	9.269	1.045111	0.19748	.	.	ENSG00000180787	ENST00000318833	T	0.09255	3.0	3.61	0.115	0.14643	.	0.942731	0.08680	N	0.909601	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	10	0.30854	T	0.27	-0.3211	3.3517	0.07155	0.5667:0.2072:0.2261:0.0	.	89	Q96NJ6	ZFP3_HUMAN	D	89	ENSP00000320347:N89D	ENSP00000320347:N89D	N	+	1	0	ZFP3	4935788	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.219000	0.17641	-0.029000	0.13827	0.460000	0.39030	AAT		0.468	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		G	4995064	A	G	4995064	3	3	248	1	0	0	0	0	1	0	0	0	17640	362	13	4	267	4	ZFP3	17	4995064	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		4995064	76200146	54	17664											
ZNF287	57336	broad.mit.edu	37	chr17	16455757	16455757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggcttttccacattcatTacatttataacacttctctc	12	16	2	11	0	2	0	1	0	1	0	5	0	3	0	1	1	2	1	1	1	4	8			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:16455757T>C	ENST00000395824.1	-	6	2316	c.1699A>G	c.(1699-1701)Aat>Gat	p.N567D	ZNF287_ENST00000395825.3_Missense_Mutation_p.N567D			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	560					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CCACATTCATTACATTTATAA	0.353																																						uc021trd.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1699-1701)Aat>Gat		Homo sapiens zinc finger protein 287 (ZNF287), mRNA.							88	91	90					17																	16455757		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455757T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1699A>G	17.37:g.16455757T>C	ENSP00000379168:p.Asn567Asp					ZNF287_uc002gqi.2_Missense_Mutation_p.N567D	p.N567D	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	5	2317	-			560					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1699A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769529	0.31320	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.07327	3.2;3.2	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.111762	0.40728	N	0.001027	T	0.03520	0.0101	N	0.02876	-0.465	0.09310	N	0.999997	B	0.19445	0.036	B	0.16289	0.015	T	0.35076	-0.9803	10	0.39692	T	0.17	.	7.8199	0.29282	0.0:0.0903:0.0:0.9097	.	560	Q9HBT7	ZN287_HUMAN	D	567	ENSP00000379169:N567D;ENSP00000379168:N567D	ENSP00000379168:N567D	N	-	1	0	ZNF287	16396482	0.000000	0.05858	0.987000	0.45799	0.995000	0.86356	-1.043000	0.03535	2.317000	0.78254	0.459000	0.35465	AAT		0.353	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			C	16455757	T	C	16455757	3	2	248	1	0	0	0	0	1	0	0	0	17822	1754	61	4	590	4	ZNF287	17	16455757	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	11460693	16455757	64739453	55	17665											
RAI1	10743	broad.mit.edu	37	chr17	17697187	17697187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccattaccaaaacctcGccaagtatcagcactacggg	12	7	6	16	2	1	0	1	0	0	0	3	0	2	0	5	1	4	2	5	1	6	3	rs542056789	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:17697187G>A	ENST00000353383.1	+	3	1394	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	RAI1_ENST00000261641.6_Missense_Mutation_p.A309T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	309	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAAACCTCGCCAAGTATCA	0.627													G|||	2	0.000399361	0	0	5008	,	,		17408	0		0	False		,,,				2504	0.002					uc002grm.3																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(925-927)Gcc>Acc		Homo sapiens retinoic acid induced 1 (RAI1), mRNA.							50	59	56					17																	17697187		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697187G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.925G>A	17.37:g.17697187G>A	ENSP00000323074:p.Ala309Thr					RAI1_uc002grn.1_Missense_Mutation_p.A309T	p.A309T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	2	1394	+			309			Gln-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.925G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431292	0.43122	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.35421	1.31;1.31;1.31	5.37	2.15	0.27550	.	0.427236	0.23817	N	0.044280	T	0.26376	0.0644	L	0.51422	1.61	0.28015	N	0.934756	D	0.58620	0.983	B	0.37239	0.244	T	0.14783	-1.0460	10	0.41790	T	0.15	.	9.5283	0.39178	0.2442:0.0:0.7558:0.0	.	309	Q7Z5J4	RAI1_HUMAN	T	309;309;309;309;309;286	ENSP00000323074:A309T;ENSP00000379120:A309T;ENSP00000261641:A309T	ENSP00000261641:A309T	A	+	1	0	RAI1	17637912	0.189000	0.23263	0.984000	0.44739	0.980000	0.70556	0.703000	0.25646	0.205000	0.20568	0.561000	0.74099	GCC		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		A	17697187	G	A	17697187	3	1	248	1	0	0	0	0	1	0	0	0	13007	1087	38	1	927	1	RAI1	17	17697187	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1241430	17697187	63498023	56	17666											
KRT37	8688	broad.mit.edu	37	chr17	39577227	39577227	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaggcgtggaacagggaTtgcaggggagtctgcaggga	10	5	20	6	1	1	0	0	0	1	0	1	4	1	4	0	7	3	3	0	7	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:39577227T>C	ENST00000225550.3	-	7	1252	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	418	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAACAGGGATTGCAGGGGAG	0.547																																						uc002hwp.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(1252-1254)aAt>aGt		Homo sapiens keratin 37 (KRT37), mRNA.							66	68	67					17																	39577227		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39577227T>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1253A>G	17.37:g.39577227T>C	ENSP00000225550:p.Asn418Ser						p.N418S	NM_003770	NP_003761	O76014	KRT37_HUMAN			6	1300	-		Breast(137;0.000496)	418			Tail.			Missense_Mutation	SNP	ENST00000225550.3	37	c.1253A>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613661	0.28712	.	.	ENSG00000108417	ENST00000225550	T	0.81330	-1.48	5.27	4.19	0.49359	.	0.000000	0.52532	D	0.000065	T	0.67040	0.2851	N	0.08118	0	0.24126	N	0.995787	D	0.61080	0.989	P	0.48704	0.587	T	0.60326	-0.7285	10	0.52906	T	0.07	.	7.7516	0.28901	0.0:0.0964:0.0:0.9036	.	418	O76014	KRT37_HUMAN	S	418	ENSP00000225550:N418S	ENSP00000225550:N418S	N	-	2	0	KRT37	36830753	1.000000	0.71417	0.483000	0.27378	0.401000	0.30781	2.205000	0.42770	0.839000	0.34971	0.533000	0.62120	AAT		0.547	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		C	39577227	T	C	39577227	3	2	248	1	0	0	0	0	1	0	0	0	8474	1493	52	4	100	4	KRT37	17	39577227	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	21880040	39577227	41617983	57	17667											
STXBP4	252983	broad.mit.edu	37	chr17	53237217	53237217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcctgaatctatctcGctcagaggagaatgaagagg	12	9	13	7	1	3	5	1	2	2	3	5	7	4	5	1	2	0	1	1	2	4	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:53237217G>A	ENST00000376352.2	+	18	1814	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R514H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	536					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCTATCTCGCTCAGAGGAG	0.438																																						uc002iuf.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1606-1608)cGc>cAc		Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.							123	99	107					17																	53237217		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53237217G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1607G>A	17.37:g.53237217G>A	ENSP00000365530:p.Arg536His					STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	p.R536H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			17	1814	+			536					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1607G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928475	0.52759	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.04049	3.72;3.73	5.22	4.25	0.50352	.	0.201501	0.35040	N	0.003485	T	0.02767	0.0083	N	0.12182	0.205	0.80722	D	1	P;P	0.35959	0.53;0.53	B;B	0.24848	0.035;0.056	T	0.56288	-0.8004	10	0.56958	D	0.05	0.0216	11.0328	0.47783	0.0864:0.0:0.9136:0.0	.	514;536	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	536;514	ENSP00000365530:R536H;ENSP00000391087:R514H	ENSP00000365530:R536H	R	+	2	0	STXBP4	50592216	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	4.502000	0.60400	1.438000	0.47492	0.563000	0.77884	CGC		0.438	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		A	53237217	G	A	53237217	3	1	248	1	0	0	0	0	1	0	0	0	15354	1087	38	1	1669	1	STXBP4	17	53237217	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	13659990	53237217	27957993	58	17668											
CBX2	84733	broad.mit.edu	37	chr17	77758112	77758112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggcctcgggctggacctGaaggtgaggacgcagaaagg	9	5	18	9	3	0	3	0	2	0	1	1	5	0	5	2	6	1	2	2	6	2	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:77758112G>A	ENST00000310942.4	+	5	974	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	290					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGACCTGAAGGTGAGGA	0.637																																						uc002jxc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(868-870)ctG>ctA		Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.							30	30	30					17																	77758112		2201	4300	6501	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758112G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.870G>A	17.37:g.77758112G>A							p.L290L	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	928	+			290					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.870G>A	CCDS32757.1																																																																																				0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		A	77758112	G	A	77758112	2	1	248	1	0	0	0	0	0	0	0	1	2718	1277	45	3		3	CBX2	17	77758112	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	24520895	77758112	3437098	59	17669											
SPPL2B	56928	broad.mit.edu	37	chr19	2339146	2339146	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatggtcatcatcttcAtcatggctgtgggcaccgtc	9	11	9	12	1	5	0	4	0	1	0	6	0	5	0	1	3	1	2	1	3	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:2339146A>G	ENST00000452401.2	+	0	618							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCTTCATCATGGCTGT	0.632																																						uc002lvs.3																			0											c.(538-540)Atc>Gtc		Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.							37	44	41					19																	2339146		2188	4286	6474			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2339146A>G		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"intramembrane protease 4"	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2339146A>G						SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.3_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.3_5'Flank	p.I180V	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	618	+		Hepatocellular(1079;0.137)	180					D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Missense_Mutation	SNP	ENST00000452401.2	37	c.538A>G		.	.	.	.	.	.	.	.	.	.	A	5.506	0.278310	0.10403	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	3.83	-2.91	0.05631	.	0.655627	0.15611	N	0.253352	T	0.18759	0.0450	N	0.17674	0.51	0.22096	N	0.999366	B;B;B;B;B;B	0.10296	0.003;0.001;0.002;0.002;0.002;0.001	B;B;B;B;B;B	0.15052	0.012;0.001;0.003;0.003;0.004;0.001	T	0.22765	-1.0207	8	0.15499	T	0.54	-25.5044	3.4699	0.07563	0.2723:0.1366:0.4575:0.1336	.	180;180;180;180;180;180	Q8TCT7-4;A6NFV1;Q8TCT7-3;Q8TCT7-2;Q8TCT7;C9JFE6	.;.;.;.;PSL1_HUMAN;.	V	180	.	ENSP00000371624:I180V	I	+	1	0	AC004410.1	2290146	0.007000	0.16637	0.976000	0.42696	0.908000	0.53690	-0.728000	0.04925	-0.866000	0.04068	0.448000	0.29417	ATC		0.632	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		G	2339146	A	G	2339146	1	3	248	0	1	0	0	0	0	0	0	0	15088	217	8	4		4	SPPL2B	19	2339146	RNA	SNP	A	TCGA-41-3915-01A-01D-1353-08		2339146	56789837	60	17670											
FBXL12	54850	broad.mit.edu	37	chr19	9921852	9921852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccctcacggtcagcCggatcttgcgcacatctcgg	7	7	12	15	4	4	1	2	0	2	1	5	2	4	2	3	4	2	1	3	4	0	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:9921852C>T	ENST00000247977.4	-	3	942	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	FBXL12_ENST00000585379.1_Missense_Mutation_p.R181Q|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.R181Q|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	234					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACGGTCAGCCGGATCTTGCG	0.667																																						uc002mme.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(700-702)cGg>cAg		Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.							28	30	30					19																	9921852		2203	4300	6503	SO:0001583	missense	54850						protein binding	g.chr19:9921852C>T	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.701G>A	19.37:g.9921852C>T	ENSP00000247977:p.Arg234Gln					FBXL12_uc002mmd.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.3_Missense_Mutation_p.R181Q	p.R234Q	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	943	-			234					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.701G>A	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530312	0.27387	.	.	ENSG00000127452	ENST00000247977	T	0.17213	2.29	4.55	1.01	0.19927	.	0.479509	0.18270	N	0.146350	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	B	0.38378	0.272	T	0.35992	-0.9766	9	.	.	.	.	7.4906	0.27460	0.1792:0.4745:0.3463:0.0	.	234	Q9NXK8	FXL12_HUMAN	Q	234	ENSP00000247977:R234Q	.	R	-	2	0	FBXL12	9782852	0.923000	0.31300	0.180000	0.23079	0.967000	0.64934	1.768000	0.38511	0.649000	0.30751	0.563000	0.77884	CGG		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		T	9921852	C	T	9921852	3	4	248	1	0	0	0	0	1	0	0	0	5708	652	23	2	283	2	FBXL12	19	9921852	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	7582706	9921852	49207131	61	17671											
S1PR5	53637	broad.mit.edu	37	chr19	10625052	10625052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggcagtagatgcgcgcGtagagtgcacagatagcggc	10	6	15	10	4	0	3	0	0	0	3	0	3	0	3	1	2	3	4	1	2	3	3	rs189645975		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:10625052G>A	ENST00000439028.3	-	2	761	c.636C>T	c.(634-636)taC>taT	p.Y212Y	S1PR5_ENST00000333430.4_Silent_p.Y212Y	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	212					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	AGATGCGCGCGTAGAGTGCAC	0.697													G|||	1	0.000199681	0	0	5008	,	,		14120	0		0.001	False		,,,				2504	0					uc021uox.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(634-636)taC>taT		Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.		G	,	0,4384		0,0,2192	22	19	20		636,636	-5.4	0.2	19		20	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous	S1PR5	NM_001166215.1,NM_030760.4	,	0,1,6482	AA,AG,GG		0.0117,0.0,0.0077	,	212/399,212/399	10625052	1,12965	2192	4291	6483	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625052G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.636C>T	19.37:g.10625052G>A						S1PR5_uc002mot.2_Silent_p.Y212Y|S1PR5_uc002mou.2_Silent_p.Y212Y	p.Y212Y	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			0	636	-			212					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.636C>T	CCDS12240.1																																																																																				0.697	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		A	10625052	G	A	10625052	2	1	248	1	0	0	0	0	0	0	0	1	13797	1140	40	1		1	S1PR5	19	10625052	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	703200	10625052	48503931	62	17672											
USHBP1	83878	broad.mit.edu	37	chr19	17361108	17361108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcccttgcagtggcttCgagcaccgccacctcctcgg	5	7	12	17	3	0	0	0	0	0	0	3	1	1	0	5	3	2	3	5	3	0	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:17361108C>T	ENST00000252597.3	-	13	2211	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	USHBP1_ENST00000431146.2_Missense_Mutation_p.E616K|AC010646.3_ENST00000594059.1_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCAGTGGCTTCGAGCACCGCC	0.657																																						uc002nfs.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2038-2040)Gaa>Aaa		Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.							35	33	34					19																	17361108		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17361108C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.2038G>A	19.37:g.17361108C>T	ENSP00000252597:p.Glu680Lys					USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	p.E680K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			12	2151	-			680						Missense_Mutation	SNP	ENST00000252597.3	37	c.2038G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700450	0.30142	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.15487	2.42;2.42	4.57	3.52	0.40303	.	0.571061	0.14216	N	0.333715	T	0.10078	0.0247	L	0.29908	0.895	0.21256	N	0.999746	P;P	0.49253	0.921;0.921	B;B	0.40134	0.32;0.238	T	0.06391	-1.0829	10	0.07990	T	0.79	-3.3959	7.8078	0.29213	0.0:0.8798:0.0:0.1202	.	616;680	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	K	680;616	ENSP00000252597:E680K;ENSP00000407902:E616K	ENSP00000252597:E680K	E	-	1	0	USHBP1	17222108	0.016000	0.18221	0.046000	0.18839	0.312000	0.27988	0.842000	0.27627	0.898000	0.36418	0.561000	0.74099	GAA		0.657	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		T	17361108	C	T	17361108	3	4	248	1	0	0	0	0	1	0	0	0	17034	893	31	2	77	2	USHBP1	19	17361108	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	6736056	17361108	41767875	63	17673											
IRGC	56269	broad.mit.edu	37	chr19	44223763	44223763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctctattcccagtcgtcCgacggcgccatgcgggtggc	4	8	14	15	6	1	0	0	0	1	0	4	1	3	0	3	4	1	1	3	4	1	2	rs543218904		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:44223763C>T	ENST00000244314.5	+	2	1252	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	351						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCAGTCGTCCGACGGCGCCA	0.657													C|||	1	0.000199681	0	0.0014	5008	,	,		16747	0		0	False		,,,				2504	0				Colon(189;350 2037 11447 13433 38914)	uc002oxh.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(1051-1053)tcC>tcT		Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.							38	40	40					19																	44223763		2203	4300	6503	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223763C>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1053C>T	19.37:g.44223763C>T						IRGC_uc021uvh.1_Silent_p.S351S	p.S351S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			1	1200	+		Prostate(69;0.0435)	351					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.1053C>T	CCDS12629.1																																																																																				0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		T	44223763	C	T	44223763	2	4	248	1	0	0	0	0	0	0	0	1	7838	639	23	2		2	IRGC	19	44223763	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	26862655	44223763	14905220	64	17674											
BCAM	4059	broad.mit.edu	37	chr19	45322375	45322375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagctggagggaaggaGacgaagtcacactcatctgc	12	6	14	9	1	3	1	2	0	1	1	3	5	3	3	0	4	2	2	0	4	2	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45322375G>A	ENST00000270233.6	+	11	1421	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	BCAM_ENST00000589651.1_Missense_Mutation_p.D467N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	467	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGGGAAGGAGACGAAGTCAC	0.597																																						uc002ozu.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1399-1401)Gac>Aac		Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.							132	142	138					19																	45322375		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322375G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1399G>A	19.37:g.45322375G>A	ENSP00000270233:p.Asp467Asn					BCAM_uc002ozt.1_Missense_Mutation_p.D467N	p.D467N	NM_005581	NP_005572	P50895	BCAM_HUMAN			10	1443	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	467			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1399G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.177896	0.38413	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.16597	2.33;2.33	4.37	3.31	0.37934	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27098	0.0664	L	0.49455	1.56	0.09310	N	1	D	0.58620	0.983	P	0.60415	0.874	T	0.08432	-1.0722	9	0.20046	T	0.44	-9.5067	8.9183	0.35596	0.1079:0.0:0.8921:0.0	.	467	P50895	BCAM_HUMAN	N	467	ENSP00000270233:D467N;ENSP00000375817:D467N	ENSP00000270233:D467N	D	+	1	0	BCAM	50014215	0.779000	0.28652	0.098000	0.21074	0.397000	0.30659	3.535000	0.53575	0.959000	0.37980	0.478000	0.44815	GAC		0.597	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45322375	G	A	45322375	3	1	248	1	0	0	0	0	1	0	0	0	1344	942	33	3	1441	3	BCAM	19	45322375	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1098612	45322375	13806608	65	17675											
RELB	5971	broad.mit.edu	37	chr19	45515222	45515222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgagtacatcaaggagaaCggcttcggcctggacggggg	10	5	17	9	4	1	1	1	0	0	1	2	5	1	2	1	6	2	2	1	6	3	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45515222C>T	ENST00000221452.8	+	4	342	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RELB_ENST00000505236.1_Silent_p.N61N|RELB_ENST00000540120.1_Silent_p.N64N	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	64	Leucine-zipper.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCAAGGAGAACGGCTTCGGCC	0.577																																						uc021uvq.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(190-192)aaC>aaT		Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.							12	13	13					19																	45515222		1793	3853	5646	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515222C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.192C>T	19.37:g.45515222C>T						RELB_uc021uvp.1_Silent_p.N61N	p.N64N	NM_006509	NP_006500	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	3	323	+		Ovarian(192;0.0728)|all_neural(266;0.112)	64			Leucine-zipper.		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.192C>T	CCDS46110.1																																																																																				0.577	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			T	45515222	C	T	45515222	2	4	248	1	0	0	0	0	0	0	0	1	13217	535	19	1		1	RELB	19	45515222	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	192847	45515222	13613761	66	17676											
ID1	3397	broad.mit.edu	37	chr20	30193855	30193855	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttcttctcgttttcacaGgcggcatgcgttcctgcgga	5	14	10	12	4	3	0	1	0	2	0	5	1	4	1	1	3	2	3	1	3	0	5			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:30193855G>A	ENST00000376112.3	+	2	531		c.e2-1		MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_3'UTR	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein						angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGTTTTCACAGGCGGCATGCG	0.652																																					NSCLC(123;1618 1779 21803 28680 33854)	uc002wwg.2																			0				endometrium(2)|ovary(1)|pancreas(1)	4						c.e2-1		Homo sapiens inhibitor of DNA binding 1, dominant negative helix-loop-helix protein (ID1), transcript variant 1, mRNA.							45	46	46					20																	30193855		2203	4300	6503	SO:0001630	splice_region_variant	3397				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	g.chr20:30193855G>A		CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"Basic helix-loop-helix proteins"	5360	protein-coding gene	gene with protein product	"DNA-binding protein inhibitor ID-1"	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.427-1G>A	20.37:g.30193855G>A						ID1_uc002wwh.2_3'UTR|MIR3193_uc021wbt.1_5'Flank	p.A143_splice	NM_002165	NP_002156	P41134	ID1_HUMAN	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		2	532	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		143					A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Splice_Site	SNP	ENST00000376112.3	37	c.427_splice	CCDS13185.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548105	0.45383	.	.	ENSG00000125968	ENST00000376112	.	.	.	4.85	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1214	0.36788	0.0986:0.0:0.9014:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ID1	29657516	0.948000	0.32251	0.995000	0.50966	0.303000	0.27691	2.358000	0.44134	1.270000	0.44297	0.555000	0.69702	.		0.652	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1	NM_002165	Intron	A	30193855	G	A	30193855	5	1	248	1	0	0	0	0	0	0	1	0	7489	1014	35	3	456	3	ID1	20	30193855	Splice_Site	SNP	G	TCGA-41-3915-01A-01D-1353-08		30193855	32831665	67	17677											
C21orf63	59271	broad.mit.edu	37	chr21	33876254	33876254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtataaacttcgacccaaGcggatcgaaggttctgagga	13	8	12	8	3	1	1	0	1	1	0	3	5	1	3	1	4	2	2	1	4	5	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr21:33876254G>T	ENST00000300255.2	+	7	1351	c.878G>T	c.(877-879)aGc>aTc	p.S293I	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.S290I|EVA1C_ENST00000401402.3_Missense_Mutation_p.S245I	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	293						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTCGACCCAAGCGGATCGAAG	0.433																																						uc002ypr.1																			0											c.(877-879)aGc>aTc		Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.							132	128	129					21																	33876254		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33876254G>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.878G>T	21.37:g.33876254G>T	ENSP00000300255:p.Ser293Ile					FAM176C_uc010glw.1_Missense_Mutation_p.S290I|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.S198I	p.S293I	NM_058187	NP_478067	P58658	CU063_HUMAN			6	1288	+			293					A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.878G>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	1.701	-0.501507	0.04261	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.08546	3.09;3.08;3.11	4.73	2.92	0.33932	.	0.732413	0.14475	N	0.317318	T	0.09291	0.0229	L	0.51422	1.61	0.09310	N	1	B;B	0.17268	0.021;0.004	B;B	0.15052	0.012;0.002	T	0.24154	-1.0168	10	0.37606	T	0.19	-14.5393	9.9976	0.41909	0.2296:0.0:0.7704:0.0	.	290;293	A6ND58;P58658	.;CU063_HUMAN	I	293;245;290	ENSP00000300255:S293I;ENSP00000384594:S245I;ENSP00000372146:S290I	ENSP00000300255:S293I	S	+	2	0	C21orf63	32798125	0.384000	0.25164	0.273000	0.24645	0.125000	0.20455	1.884000	0.39668	0.436000	0.26393	-0.391000	0.06502	AGC		0.433	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		T	33876254	G	T	33876254	3	4	248	1	0	0	0	0	1	0	0	0	2131	971	34	5	904	5	C21orf63	21	33876254	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		33876254	14253641	68	17678			1	43		2	2	24	G		5.126377e-05
C21orf63	59271	broad.mit.edu	37	chr21	33876277	33876277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaaggttctgaggaaaGatggaattcttgttagcaac	13	11	12	5	1	2	2	0	1	2	1	3	6	2	4	0	3	2	3	0	3	5	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr21:33876277G>T	ENST00000300255.2	+	7	1374	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.D298Y|EVA1C_ENST00000401402.3_Missense_Mutation_p.D253Y	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	301						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TCTGAGGAAAGATGGAATTCT	0.398																																						uc002ypr.1																			0											c.(901-903)Gat>Tat		Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.							144	136	139					21																	33876277		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33876277G>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.901G>T	21.37:g.33876277G>T	ENSP00000300255:p.Asp301Tyr					FAM176C_uc010glw.1_Missense_Mutation_p.D298Y|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.D206Y	p.D301Y	NM_058187	NP_478067	P58658	CU063_HUMAN			6	1311	+			301					A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.901G>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381137	0.61845	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.10860	2.86;2.83;2.86	4.73	4.73	0.59995	.	0.387908	0.29119	N	0.013095	T	0.23727	0.0574	M	0.78049	2.395	0.52099	D	0.999946	P;B	0.35033	0.481;0.405	B;B	0.41946	0.371;0.309	T	0.05273	-1.0895	10	0.72032	D	0.01	-10.3423	17.696	0.88282	0.0:0.0:1.0:0.0	.	298;301	A6ND58;P58658	.;CU063_HUMAN	Y	301;253;298	ENSP00000300255:D301Y;ENSP00000384594:D253Y;ENSP00000372146:D298Y	ENSP00000300255:D301Y	D	+	1	0	C21orf63	32798148	1.000000	0.71417	0.981000	0.43875	0.822000	0.46500	6.369000	0.73109	2.176000	0.68965	0.455000	0.32223	GAT		0.398	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		T	33876277	G	T	33876277	3	4	248	1	0	0	0	0	1	0	0	0	2131	942	33	5	927	5	C21orf63	21	33876277	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	23	33876277	14253618	69	17679			1	43		2	2	24	G		5.126377e-05
ATP11C	286410	broad.mit.edu	37	chrX	138867417	138867417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaattacactcatacgtCgccggacagcatcaaagttt	13	10	6	12	3	3	0	3	0	0	0	4	1	3	1	1	1	3	2	1	1	4	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrX:138867417C>A	ENST00000327569.3	-	16	1741	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	ATP11C_ENST00000370557.1_Missense_Mutation_p.R545L|ATP11C_ENST00000370543.1_Missense_Mutation_p.R548L|ATP11C_ENST00000359686.2_Missense_Mutation_p.R548L|ATP11C_ENST00000361648.2_Missense_Mutation_p.R548L|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	548					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTCATACGTCGCCGGACAGC	0.338																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1642-1644)cGa>cTa		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							105	93	97					X																	138867417		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138867417C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1643G>T	X.37:g.138867417C>A	ENSP00000332756:p.Arg548Leu					ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R548L	p.R548L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			15	1742	-	Acute lymphoblastic leukemia(192;0.000127)		548					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1643G>T	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.935827|4.935827	0.92458|0.92458	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68	5.77|5.77	5.77|5.77	0.91146|0.91146	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88243|0.88243	0.6384|0.6384	M|M	0.92649|0.92649	3.33|3.33	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.995	D|D	0.90878|0.90878	0.4751|0.4751	5|10	.|0.87932	.|D	.|0	.|.	17.7619|17.7619	0.88467|0.88467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|548;548	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	Y|L	100|545;548;548;548;548	.|ENSP00000359588:R545L;ENSP00000355165:R548L;ENSP00000332756:R548L;ENSP00000359574:R548L;ENSP00000352715:R548L	.|ENSP00000332756:R548L	D|R	-|-	1|2	0|0	ATP11C|ATP11C	138695083|138695083	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.900000|0.900000	0.52787|0.52787	7.397000|7.397000	0.79903|0.79903	2.413000|2.413000	0.81919|0.81919	0.600000|0.600000	0.82982|0.82982	GAC|CGA		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138867417	C	A	138867417	3	1	248	1	0	0	0	0	1	0	0	0	1121	884	31	5	1878	5	ATP11C	23	138867417	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		138867417	16403143	70	17680											
ACTRT2	140625	broad.mit.edu	37	chr1	2938845	2938845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcatgcagctgctcctgGccagcggccacaccttcccc	5	8	8	20	1	1	0	1	0	0	0	4	0	4	0	7	2	4	3	7	2	0	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:2938845G>T	ENST00000378404.2	+	1	800	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	199						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGCTCCTGGCCAGCGGCCA	0.617																																						uc001ajz.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(595-597)Gcc>Tcc		Homo sapiens actin-related protein T2 (ACTRT2), mRNA.							37	39	38					1																	2938845		2203	4298	6501	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938845G>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.595G>T	1.37:g.2938845G>T	ENSP00000367658:p.Ala199Ser						p.A199S	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	0	800	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	199					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.595G>T	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538681	0.27475	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.94092	-3.35	4.85	2.65	0.31530	.	0.627359	0.14189	N	0.335478	D	0.88168	0.6364	L	0.33624	1.015	0.34544	D	0.710604	P	0.34462	0.454	B	0.34931	0.192	D	0.90523	0.4490	10	0.87932	D	0	.	8.8299	0.35078	0.0987:0.1587:0.7426:0.0	.	199	Q8TDY3	ACTT2_HUMAN	S	199	ENSP00000367658:A199S	ENSP00000367658:A199S	A	+	1	0	ACTRT2	2928705	1.000000	0.71417	0.998000	0.56505	0.110000	0.19582	4.631000	0.61304	2.228000	0.72767	0.561000	0.74099	GCC		0.617	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		T	2938845	G	T	2938845	3	4	249	1	0	0	0	0	1	0	0	0	219	1203	42	5	597	5	ACTRT2	1	2938845	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		2938845	246311776	1	17681											
TPRG1L	127262	broad.mit.edu	37	chr1	3545150	3545150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggctactccatgaccaggGgcaaaataggcttttagccg	10	9	12	10	1	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	5	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:3545150G>A	ENST00000378344.2	+	5	873	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TPRG1L_ENST00000344579.5_Missense_Mutation_p.G209S	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	268						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CATGACCAGGGGCAAAATAGG	0.612																																						uc001akm.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8						c.(802-804)Ggc>Agc		Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.							62	55	58					1																	3545150		2203	4298	6501	SO:0001583	missense	127262					cell junction|synaptic vesicle		g.chr1:3545150G>A	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"family with sequence similarity 79, member A"	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.802G>A	1.37:g.3545150G>A	ENSP00000367595:p.Gly268Ser					TPRG1L_uc009vlj.3_Missense_Mutation_p.G209S	p.G268S	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	4	883	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	268					A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	37	c.802G>A	CCDS47.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203861	0.95033	.	.	ENSG00000158109	ENST00000378344;ENST00000456805;ENST00000344579	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80070	-0.1536	9	0.49607	T	0.09	-5.6888	17.9329	0.89004	0.0:0.0:1.0:0.0	.	209;268	Q5T0D9-2;Q5T0D9	.;TPRGL_HUMAN	S	268;225;209	.	ENSP00000339714:G209S	G	+	1	0	TPRG1L	3535010	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.401000	0.97294	2.468000	0.83385	0.655000	0.94253	GGC		0.612	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		A	3545150	G	A	3545150	3	1	249	1	0	0	0	0	1	0	0	0	16416	1232	43	3	820	3	TPRG1L	1	3545150	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	606305	3545150	245705471	2	17682											
PCSK9	255738	broad.mit.edu	37	chr1	55523733	55523733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagccatgatgctgtctgCcgagccggagctcaccctgg	6	8	13	14	2	2	1	1	1	1	0	2	3	2	2	4	2	6	3	4	2	0	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:55523733C>T	ENST00000302118.5	+	8	1495	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A202V	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	402	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ATGCTGTCTGCCGAGCCGGAG	0.612																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.2																			0		p.S401C(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1204-1206)gCc>gTc		Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.							68	63	65					1																	55523733		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523733C>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1205C>T	1.37:g.55523733C>T	ENSP00000303208:p.Ala402Val					PCSK9_uc010oom.2_Non-coding_Transcript	p.A402V	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			7	1567	+			402			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1205C>T	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082509	0.20309	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89485	-2.52;-2.52	4.39	1.39	0.22231	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.373866	0.26750	N	0.022692	T	0.73156	0.3551	N	0.20483	0.58	0.09310	N	1	B	0.32302	0.363	B	0.24394	0.053	T	0.60762	-0.7199	10	0.30078	T	0.28	-9.1322	2.8742	0.05626	0.1419:0.5517:0.1465:0.16	.	402	Q8NBP7	PCSK9_HUMAN	V	402;202	ENSP00000303208:A402V;ENSP00000441859:A202V	ENSP00000303208:A402V	A	+	2	0	PCSK9	55296321	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	1.074000	0.30703	0.064000	0.16427	-0.986000	0.02555	GCC		0.612	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		T	55523733	C	T	55523733	3	4	249	1	0	0	0	0	1	0	0	0	11606	739	26	3	1235	3	PCSK9	1	55523733	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	51978583	55523733	193726888	3	17683											
ADAM30	11085	broad.mit.edu	37	chr1	120436835	120436835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttcctatcacttgccGgaaaaacacaaaaaccactg	14	9	7	11	1	1	0	1	0	0	0	2	1	2	1	3	2	3	1	3	2	5	3	rs529944099		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:120436835G>A	ENST00000369400.1	-	1	2283	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	709					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATCACTTGCCGGAAAAACACA	0.393																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2125-2127)Cgg>Tgg		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							94	99	98					1																	120436835		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436835G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2125C>T	1.37:g.120436835G>A	ENSP00000358407:p.Arg709Trp						p.R709W	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	2313	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	709					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.2125C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942112	0.53079	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01258	5.09	4.94	-3.69	0.04450	.	0.899723	0.09214	U	0.832834	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.23591	0.088	B	0.11329	0.006	T	0.45745	-0.9240	10	0.59425	D	0.04	.	0.3393	0.00331	0.3294:0.1573:0.2656:0.2477	.	709	Q9UKF2	ADA30_HUMAN	W	709	ENSP00000358407:R709W	ENSP00000358407:R709W	R	-	1	2	ADAM30	120238358	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.158000	0.10070	-0.778000	0.04566	-0.136000	0.14681	CGG		0.393	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120436835	G	A	120436835	3	1	249	1	0	0	0	0	1	0	0	0	248	1115	39	2	251	2	ADAM30	1	120436835	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	64913102	120436835	128813786	4	17684											
PDC	5132	broad.mit.edu	37	chr1	186413476	186413476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagttccttttcaattgTttctaggaattgctttccag	7	19	6	9	0	3	0	2	0	1	0	5	1	5	1	2	1	1	3	2	1	3	9			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:186413476T>G	ENST00000391997.2	-	4	463	c.376A>C	c.(376-378)Aca>Cca	p.T126P	PDC_ENST00000497198.1_Missense_Mutation_p.T74P|PDC_ENST00000340129.5_Missense_Mutation_p.T126P|PDC_ENST00000456239.2_Missense_Mutation_p.T74P	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	126	Thioredoxin fold. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTTTCAATTGTTTCTAGGAAT	0.398																																						uc001gsa.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(376-378)Aca>Cca		Homo sapiens phosducin (PDC), transcript variant 1, mRNA.							179	185	183					1																	186413476		2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186413476T>G	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.376A>C	1.37:g.186413476T>G	ENSP00000375855:p.Thr126Pro					MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.T74P	p.T126P	NM_002597	NP_072098	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	3	449	-		Breast(1374;1.53e-05)	126					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.376A>C	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994447	0.74703	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.58	3.26	0.37387	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.151310	0.64402	D	0.000015	T	0.41743	0.1172	L	0.29908	0.895	0.35960	D	0.834559	P	0.38582	0.638	P	0.48795	0.59	T	0.51663	-0.8677	10	0.66056	D	0.02	-20.2834	4.4918	0.11817	0.0:0.4819:0.0:0.5181	.	126	P20941	PHOS_HUMAN	P	126;74;74;126	ENSP00000375855:T126P;ENSP00000422775:T74P;ENSP00000411564:T74P;ENSP00000342033:T126P	ENSP00000342033:T126P	T	-	1	0	PDC	184680099	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	3.051000	0.49885	0.957000	0.37930	0.533000	0.62120	ACA		0.398	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		G	186413476	T	G	186413476	3	3	249	1	0	0	0	0	1	0	0	0	11614	1725	60	5	368	5	PDC	1	186413476	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	65976641	186413476	62837145	5	17685											
RYR2	6262	broad.mit.edu	37	chr1	237550598	237550598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacttgtcttatggcaaCggcagcttacacgtggatgc	9	10	11	11	2	1	0	0	0	1	0	1	1	1	1	0	3	5	4	0	3	3	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498																																						uc001hyl.1																			0		p.G197S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(592-594)aaC>aaT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							113	114	114					1																	237550598		2003	4178	6181	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237550598C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.594C>T	1.37:g.237550598C>T							p.N198N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	714	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	198			MIR 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.594C>T	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237550598	C	T	237550598	2	4	249	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237550598	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	51137122	237550598	11700023	6	17686											
APOB	338	broad.mit.edu	37	chr2	21227177	21227177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttccatttagaaaagtcGtcatcttcatccatatccat	13	14	4	10	1	3	1	2	0	1	1	7	1	6	1	3	0	0	1	3	0	5	5	rs12713501	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:21227177G>A	ENST00000233242.1	-	28	12178	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4017					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D4017D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAAAAGTCGTCATCTTCAT	0.512																																						uc002red.3																			1	Substitution - coding silent(1)	p.D4017D(2)	lung(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12049-12051)gaC>gaT		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)	G		2,4404	4.2+/-10.8	0,2,2201	110	107	108		12051	-10.2	0	2	dbSNP_126	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4017/4564	21227177	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227177G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12051C>T	2.37:g.21227177G>A							p.D4017D	NM_000384	NP_000375	P04114	APOB_HUMAN			27	12179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4017					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12051C>T	CCDS1703.1																																																																																				0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21227177	G	A	21227177	2	1	249	1	0	0	0	0	0	0	0	1	785	1136	40	1		1	APOB	2	21227177	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08		21227177	221972196	7	17687											
LCT	3938	broad.mit.edu	37	chr2	136566637	136566637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgatgacggcgtgggCtatcctatatggtgcccagc	6	11	14	10	2	0	2	0	2	0	0	1	2	1	2	2	4	2	2	2	4	3	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:136566637C>T	ENST00000264162.2	-	8	3290	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1094	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACGGCGTGGGCTATCCTATAT	0.542																																						uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3280-3282)Gcc>Acc		Homo sapiens lactase (LCT), mRNA.							47	52	50					2																	136566637		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566637C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3280G>A	2.37:g.136566637C>T	ENSP00000264162:p.Ala1094Thr						p.A1094T	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3291	-			1094			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3280G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	8.655	0.899165	0.17686	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.54866	0.55	5.78	3.9	0.45041	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.338705	0.37906	N	0.001891	T	0.52709	0.1751	L	0.60845	1.875	0.37037	D	0.896973	B	0.15473	0.013	B	0.34931	0.192	T	0.56823	-0.7915	10	0.72032	D	0.01	-6.1697	9.1301	0.36839	0.0:0.7555:0.0:0.2445	.	1094	P09848	LPH_HUMAN	T	1094;526	ENSP00000264162:A1094T	ENSP00000264162:A1094T	A	-	1	0	LCT	136283107	0.989000	0.36119	0.163000	0.22734	0.003000	0.03518	2.661000	0.46758	0.700000	0.31782	0.563000	0.77884	GCC		0.542	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		T	136566637	C	T	136566637	3	4	249	1	0	0	0	0	1	0	0	0	8693	797	28	3	2543	3	LCT	2	136566637	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	115339460	136566637	106632736	8	17688											
TTN	7273	broad.mit.edu	37	chr2	179392028	179392028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcttcaattttaggcGgaattcctttatggaacaat	13	13	9	6	1	1	1	1	0	0	1	2	4	2	3	1	3	2	1	1	3	7	6			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:179392028G>A	ENST00000591111.1	-	313	102988	c.102764C>T	c.(102763-102765)cCg>cTg	p.P34255L	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35896L|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P27023L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P33328L|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26956L|TTN_ENST00000460472.2_Missense_Mutation_p.P26831L|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	34255					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTTAGGCGGAATTCCTTT	0.378																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(99982-99984)cCg>cTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							51	43	46					2																	179392028		1832	4086	5918	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179392028G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102764C>T	2.37:g.179392028G>A	ENSP00000465570:p.Pro34255Leu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P27023L|TTN_uc021vta.1_Missense_Mutation_p.P26956L|TTN_uc021vtb.1_Missense_Mutation_p.P26831L|TTN_uc002umq.3_Missense_Mutation_p.P244L	p.P33328L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		311	100208	-			34255			Ig-like 146.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99983C>T		.	.	.	.	.	.	.	.	.	.	G	15.91	2.973350	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72835	-0.69;-0.1;-0.12;-0.15	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	.	.	.	.	T	0.74989	0.3789	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.996;0.996;0.996;1.0	P;P;P;P;P	0.62298	0.572;0.841;0.841;0.713;0.9	T	0.77558	-0.2543	9	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	26831;26956;27023;34255;33328	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	L	33328;26831;27023;26956;26828	ENSP00000343764:P33328L;ENSP00000434586:P26831L;ENSP00000340554:P27023L;ENSP00000352154:P26956L	ENSP00000340554:P27023L	P	-	2	0	TTN	179100274	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	CCG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179392028	G	A	179392028	3	1	249	1	0	0	0	0	1	0	0	0	16732	1116	39	2	292	2	TTN	2	179392028	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	42825391	179392028	63807345	9	17689											
ALPP	250	broad.mit.edu	37	chr2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCgccaggtgatgggggctggc	7	6	20	8	2	0	1	0	1	0	0	0	3	0	2	1	7	2	3	1	7	2	0	rs201259070		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378). {ECO:0000269|PubMed:3461452}.		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667																																						uc002vsq.3																			1	Substitution - Missense(1)	p.R263C(2)	kidney(1)	NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(787-789)Cgc>Tgc		Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.							73	75	74					2																	233245025		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245025C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.787C>T	2.37:g.233245025C>T	ENSP00000375881:p.Arg263Cys						p.R263C	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	952	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	263		R -> H (in dbSNP:rs2853378).			P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.787C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	9.825	1.186738	0.21870	.	.	ENSG00000163283	ENST00000392027	D	0.96802	-4.13	2.31	0.0197	0.14122	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.003840	0.08014	N	0.990937	D	0.96065	0.8718	M	0.79258	2.445	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	D	0.88532	0.3103	10	0.51188	T	0.08	.	3.4481	0.07487	0.3001:0.4479:0.0:0.252	.	263	P05187	PPB1_HUMAN	C	263	ENSP00000375881:R263C	ENSP00000375881:R263C	R	+	1	0	ALPP	232953269	0.000000	0.05858	0.953000	0.39169	0.172000	0.22775	-0.022000	0.12480	0.295000	0.22570	0.298000	0.19748	CGC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		T	233245025	C	T	233245025	3	4	249	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	53852997	233245025	9954348	10	17690											
ALPPL2	251	broad.mit.edu	37	chr2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCaccaggtgatgggggctggt	8	7	19	7	1	0	1	0	1	0	0	0	3	0	2	1	7	2	4	1	7	2	0	rs577584936		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233273106C>T	ENST00000295453.3	+	6	830	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	260				H -> R (in Ref. 8; AAH14139). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCTGGCGAAGCACCAGGTGAT	0.662													c|||	1	0.000199681	0	0	5008	,	,		8954	0		0.001	False		,,,				2504	0					uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(778-780)Cac>Tac		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						58	58	58					2																	233273106		2203	4295	6498	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273106C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.778C>T	2.37:g.233273106C>T	ENSP00000295453:p.His260Tyr						p.H260Y	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	831	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	260	H -> R (in Ref. 8; AAH14139).				A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.778C>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.328561	0.01309	.	.	ENSG00000163286	ENST00000295453	D	0.96716	-4.1	3.37	-2.4	0.06583	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.898809	0.09832	N	0.750052	D	0.88062	0.6336	N	0.13352	0.335	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77683	-0.2496	10	0.20519	T	0.43	.	3.8883	0.09108	0.4008:0.3656:0.0:0.2336	.	260	P10696	PPBN_HUMAN	Y	260	ENSP00000295453:H260Y	ENSP00000295453:H260Y	H	+	1	0	ALPPL2	232981350	0.000000	0.05858	0.476000	0.27291	0.019000	0.09904	-0.613000	0.05610	-0.118000	0.11851	0.411000	0.27672	CAC		0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233273106	C	T	233273106	3	4	249	1	0	0	0	0	1	0	0	0	549	710	25	3	800	3	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	28081	233273106	9926267	11	17691											
DHX30	22907	broad.mit.edu	37	chr3	47882649	47882649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacccagcaggattcccacGctccactcagggactcaagg	10	6	10	15	1	2	1	2	1	0	0	4	3	4	3	3	3	1	2	3	3	1	1	rs138418233		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:47882649G>A	ENST00000445061.1	+	7	1056	c.649G>A	c.(649-651)Gct>Act	p.A217T	DHX30_ENST00000457607.1_Missense_Mutation_p.A245T|DHX30_ENST00000446256.2_Missense_Mutation_p.A178T|DHX30_ENST00000348968.4_Missense_Mutation_p.A189T	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	217						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGATTCCCACGCTCCACTCAG	0.552													G|||	1	0.000199681	0	0	5008	,	,		21419	0		0.001	False		,,,				2504	0					uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(649-651)Gct>Act		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	44	45	45		532,649	2.8	0.8	3	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	DHX30	NM_014966.3,NM_138615.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	178/1156,217/1195	47882649	1,13005	2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882649G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.649G>A	3.37:g.47882649G>A	ENSP00000405620:p.Ala217Thr					DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.3_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	p.A217T	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	6	1075	+			217					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.649G>A	CCDS2759.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.033	-1.322013	0.01320	2.27E-4	0.0	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02890	4.12;4.12;4.12;4.14	5.17	2.77	0.32553	.	0.770977	0.12328	N	0.478699	T	0.00998	0.0033	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.46205	-0.9208	10	0.02654	T	1	.	7.8813	0.29624	0.835:0.0:0.165:0.0	.	217;178;245	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	T	178;217;189;245	ENSP00000392601:A178T;ENSP00000405620:A217T;ENSP00000343442:A189T;ENSP00000394682:A245T	ENSP00000343442:A189T	A	+	1	0	DHX30	47857653	0.532000	0.26346	0.809000	0.32408	0.297000	0.27493	2.326000	0.43849	0.285000	0.22329	-0.294000	0.09567	GCT		0.552	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47882649	G	A	47882649	3	1	249	1	0	0	0	0	1	0	0	0	4504	1087	38	1	678	1	DHX30	3	47882649	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		47882649	150139781	12	17692											
LAMP3	27074	broad.mit.edu	37	chr3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgctggacaggtttttttAtgtcctgtactgttgctgct	4	19	11	7	0	0	0	0	0	0	0	1	1	1	1	1	2	4	7	1	2	2	7			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:182872086A>G	ENST00000265598.3	-	2	398	c.143T>C	c.(142-144)aTa>aCa	p.I48T	LAMP3_ENST00000466939.1_Missense_Mutation_p.I24T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	48					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.I48T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428																																						uc003flh.4																			1	Substitution - Missense(1)	p.I48T(2)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(142-144)aTa>aCa		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.							202	184	190					3																	182872086		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182872086A>G	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.143T>C	3.37:g.182872086A>G	ENSP00000265598:p.Ile48Thr						p.I48T	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		1	367	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		48					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.143T>C	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	A	0.743	-0.775624	0.02951	.	.	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	T;T;T;T	0.36520	1.83;1.85;1.25;1.28	4.73	0.36	0.16097	.	0.990321	0.08215	N	0.980033	T	0.11623	0.0283	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.07482	T	0.82	2.2098	8.2754	0.31868	0.0943:0.5046:0.4011:0.0	.	48	Q9UQV4	LAMP3_HUMAN	T	48;24;48;24	ENSP00000265598:I48T;ENSP00000418912:I24T;ENSP00000419059:I48T;ENSP00000420589:I24T	ENSP00000265598:I48T	I	-	2	0	LAMP3	184354780	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.539000	0.06113	-0.116000	0.11893	-0.313000	0.08912	ATA		0.428	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			G	182872086	A	G	182872086	3	3	249	1	0	0	0	0	1	0	0	0	8619	449	16	4	1127	4	LAMP3	3	182872086	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	134989437	182872086	15150344	13	17693											
UTP3	57050	broad.mit.edu	37	chr4	71555475	71555475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctgctgcctgtgctGttacagatctttctgatgat	5	17	9	10	0	3	3	0	2	3	1	3	3	3	3	1	0	5	4	1	0	1	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:71555475G>A	ENST00000254803.2	+	1	1280	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	361					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGCCTGTGCTGTTACAGATCT	0.363																																						uc003hfo.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(1081-1083)Gtt>Att		Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.							63	67	65					4																	71555475		2198	4298	6496	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555475G>A	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1081G>A	4.37:g.71555475G>A	ENSP00000254803:p.Val361Ile						p.V361I	NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		0	1280	+			361					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1081G>A	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	G	7.957	0.746104	0.15710	.	.	ENSG00000132467	ENST00000254803	T	0.31769	1.48	3.89	3.04	0.35103	.	0.811411	0.10399	N	0.679407	T	0.26448	0.0646	L	0.47716	1.5	0.20638	N	0.999875	P	0.34977	0.478	B	0.28849	0.095	T	0.09292	-1.0681	10	0.37606	T	0.19	-0.2699	11.8259	0.52267	0.0863:0.0:0.9137:0.0	.	361	Q9NQZ2	SAS10_HUMAN	I	361	ENSP00000254803:V361I	ENSP00000254803:V361I	V	+	1	0	UTP3	71774339	0.020000	0.18652	0.006000	0.13384	0.653000	0.38743	0.732000	0.26072	0.972000	0.38314	0.655000	0.94253	GTT		0.363	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		A	71555475	G	A	71555475	3	1	249	1	0	0	0	0	1	0	0	0	17098	1377	48	3	1083	3	UTP3	4	71555475	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		71555475	119598801	14	17694											
ANKRD17	26057	broad.mit.edu	37	chr4	73951059	73951059	+	Frame_Shift_Del	DEL	C	C	-																															gggtgctcctccaaggggtgCcccaggtccgtacatctgac																										TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:73951059delC	ENST00000358602.4	-	30	7182	c.7066delG	c.(7066-7068)gcafs	p.A2356fs	ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.A2243fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.A2105fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2356					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGGGGTGCCCCAGGTCCG	0.463																																						uc003hgp.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7066-7068)gcafs		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							137	142	141					4																	73951059		2203	4300	6503	SO:0001589	frameshift_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73951059delC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7066delG	4.37:g.73951059delC	ENSP00000351416:p.Ala2356fs					ANKRD17_uc003hgo.3_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.A2355fs	p.A2356fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	7183	-	Breast(15;0.000295)		2356					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	c.7066delG	CCDS34004.1																																																																																				0.463	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		-	73951059	C	-	73951059	7	5	249	1	0	1	0	1	0	0	0	0	646	739	26	0	765	0	ANKRD17	4	73951059	Frame_Shift_Del	DEL	C	TCGA-41-4097-01A-01D-1353-08	2395584	73951059	117203217	15	17695											
TRIML1	339976	broad.mit.edu	37	chr4	189068417	189068417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcatctacagcttccCgcaggcttctttccaagagg	8	11	7	15	1	3	1	1	0	2	1	6	1	6	1	3	2	2	3	3	2	2	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:189068417C>T	ENST00000332517.3	+	6	1438	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	433	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TACAGCTTCCCGCAGGCTTCT	0.522																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1297-1299)cCg>cTg		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							104	100	101					4																	189068417		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068417C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1298C>T	4.37:g.189068417C>T	ENSP00000327738:p.Pro433Leu					TRIML1_uc003izn.1_Missense_Mutation_p.P157L	p.P433L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1413	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	433			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1298C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	15.68	2.903974	0.52333	.	.	ENSG00000184108	ENST00000332517	T	0.68479	-0.33	5.05	5.05	0.67936	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000090	T	0.70789	0.3264	L	0.38838	1.175	0.46317	D	0.998981	D	0.69078	0.997	P	0.60949	0.881	T	0.70328	-0.4902	10	0.48119	T	0.1	-12.5348	14.156	0.65417	0.0:1.0:0.0:0.0	.	433	Q8N9V2	TRIML_HUMAN	L	433	ENSP00000327738:P433L	ENSP00000327738:P433L	P	+	2	0	TRIML1	189305411	0.023000	0.18921	0.965000	0.40720	0.363000	0.29612	0.481000	0.22260	2.818000	0.97014	0.645000	0.84053	CCG		0.522	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189068417	C	T	189068417	3	4	249	1	0	0	0	0	1	0	0	0	16547	652	23	2	1320	2	TRIML1	4	189068417	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	115117358	189068417	2085859	16	17696											
IL31RA	133396	broad.mit.edu	37	chr5	55210699	55210699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactcatctgtgttggccCaccgttcccaaccctgctga	6	12	8	15	1	2	2	1	2	1	0	3	2	3	2	4	1	2	3	4	1	1	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:55210699C>T	ENST00000447346.2	+	14	1826	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	IL31RA_ENST00000354961.4_Silent_p.P568P|IL31RA_ENST00000490985.1_Silent_p.P445P|IL31RA_ENST00000396834.1_Silent_p.P568P|IL31RA_ENST00000359040.5_Silent_p.P587P	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	555					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGTTGGCCCACCGTTCCCA	0.423																																						uc003jql.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1759-1761)ccC>ccT		Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.							118	104	108					5																	55210699		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55210699C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1761C>T	5.37:g.55210699C>T						IL31RA_uc003jqm.3_Silent_p.P568P|IL31RA_uc003jqn.3_Silent_p.P587P|IL31RA_uc021xyq.1_Silent_p.P568P|IL31RA_uc003jqo.3_Silent_p.P445P	p.P587P	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN			13	1953	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	555					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1761C>T	CCDS3970.2																																																																																				0.423	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		T	55210699	C	T	55210699	2	4	249	1	0	0	0	0	0	0	0	1	7691	581	21	3		3	IL31RA	5	55210699	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		55210699	125704561	17	17697											
MAST4	375449	broad.mit.edu	37	chr5	66462447	66462447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctctgcagccagcagCgacacctcttctgccaaggc	8	6	11	16	1	3	0	0	0	3	0	3	2	3	0	4	2	5	2	4	2	1	1	rs368465061		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:66462447C>T	ENST00000403625.2	+	29	7735	c.7440C>T	c.(7438-7440)agC>agT	p.S2480S	MAST4_ENST00000403666.1_Silent_p.S2291S|MAST4_ENST00000261569.7_Silent_p.S2286S|MAST4_ENST00000404260.3_Silent_p.S2483S|MAST4_ENST00000405643.1_Silent_p.S2301S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2483						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCCAGCAGCGACACCTCTT	0.652											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7438-7440)agC>agT		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.		C	,	0,4040		0,0,2020	15	20	19		7440,6873	-2.7	0	5		19	1,8375		0,1,4187	no	coding-synonymous,coding-synonymous	MAST4	NM_001164664.1,NM_015183.2	,	0,1,6207	TT,TC,CC		0.0119,0.0,0.0081	,	2480/2624,2291/2435	66462447	1,12415	2020	4188	6208	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462447C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7440C>T	5.37:g.66462447C>T			OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_uc003jut.2_Silent_p.S2291S|MAST4_uc003juw.3_Silent_p.S2219S|MAST4_uc003jux.3_Silent_p.S44S	p.S2480S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	28	7748	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2483					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.7440C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	5.736	0.320192	0.10845	0.0	1.19E-4	ENSG00000069020	ENST00000443808	.	.	.	4.52	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8776	10.9447	0.47294	0.0:0.257:0.0:0.743	.	.	.	.	X	1537	.	.	R	+	1	2	MAST4	66498203	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.386000	0.07370	-0.480000	0.06803	0.462000	0.41574	CGA		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66462447	C	T	66462447	2	4	249	1	0	0	0	0	0	0	0	1	9327	767	27	1		1	MAST4	5	66462447	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	11251748	66462447	114452813	18	17698											
TTC37	9652	broad.mit.edu	37	chr5	94838702	94838702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaatagacaaggctctctCataggctgttacatagaagt	15	10	8	8	0	2	2	1	0	1	2	3	2	2	2	0	2	2	3	0	2	8	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:94838702C>G	ENST00000358746.2	-	32	3521	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1075						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAGGCTCTCTCATAGGCTGTT	0.368																																						uc003klb.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3223-3225)Gag>Cag		Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.							109	103	105					5																	94838702		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94838702C>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3223G>C	5.37:g.94838702C>G	ENSP00000351596:p.Glu1075Gln						p.E1075Q	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			31	3520	-			1075					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3223G>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022260	0.75275	.	.	ENSG00000198677	ENST00000358746	T	0.38401	1.14	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.103224	0.64402	D	0.000004	T	0.49847	0.1581	M	0.81802	2.56	0.50039	D	0.999843	D	0.58620	0.983	P	0.52957	0.714	T	0.47935	-0.9078	10	0.20519	T	0.43	.	12.3511	0.55148	0.0:0.9226:0.0:0.0774	.	1075	Q6PGP7	TTC37_HUMAN	Q	1075	ENSP00000351596:E1075Q	ENSP00000351596:E1075Q	E	-	1	0	TTC37	94864458	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.525000	0.67110	2.488000	0.83962	0.585000	0.79938	GAG		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		G	94838702	C	G	94838702	3	3	249	1	0	0	0	0	1	0	0	0	16702	835	29	5	1519	5	TTC37	5	94838702	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	28376255	94838702	86076558	19	17699											
FBN2	2201	broad.mit.edu	37	chr5	127611828	127611828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgtagttgcatggtttcGgggactgggagcattcatca	9	12	14	6	1	2	1	2	0	0	1	3	3	2	3	0	4	2	5	0	4	1	4	rs199583859		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:127611828G>T	ENST00000508053.1	-	65	8470	c.7496C>A	c.(7495-7497)cCg>cAg	p.P2499Q	FBN2_ENST00000262464.4_Missense_Mutation_p.P2499Q			P35556	FBN2_HUMAN	fibrillin 2	2499	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATGGTTTCGGGGACTGGGA	0.433																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7495-7497)cCg>cAg		Homo sapiens fibrillin 2 (FBN2), mRNA.							169	147	154					5																	127611828		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127611828G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7496C>A	5.37:g.127611828G>T	ENSP00000424571:p.Pro2499Gln						p.P2499Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	58	7935	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2499			EGF-like 42; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7496C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126312	0.77549	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.88201	-2.35;-2.35	5.01	3.2	0.36748	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.102779	0.43579	D	0.000545	D	0.89406	0.6706	N	0.26092	0.79	0.43846	D	0.996432	D	0.89917	1.0	D	0.85130	0.997	D	0.89469	0.3742	10	0.59425	D	0.04	.	11.3219	0.49428	0.0721:0.13:0.7979:0.0	.	2499	P35556	FBN2_HUMAN	Q	2499	ENSP00000262464:P2499Q;ENSP00000424571:P2499Q	ENSP00000262464:P2499Q	P	-	2	0	FBN2	127639727	1.000000	0.71417	0.856000	0.33681	0.985000	0.73830	6.478000	0.73596	1.452000	0.47756	0.655000	0.94253	CCG		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127611828	G	T	127611828	3	4	249	1	0	0	0	0	1	0	0	0	5703	1116	39	5	1270	5	FBN2	5	127611828	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	32773126	127611828	53303432	20	17700											
ATP10B	23120	broad.mit.edu	37	chr5	160047790	160047790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatcatctctctcatcCgagtctgtggtggccacgtt	6	13	10	12	2	4	0	2	0	3	0	7	2	5	0	2	2	1	2	2	2	0	1	rs201458050		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:160047790C>T	ENST00000327245.5	-	15	2826	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	660					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCTCATCCGAGTCTGTGG	0.572													C|||	1	0.000199681	0	0	5008	,	,		21998	0.001		0	False		,,,				2504	0					uc003lym.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1978-1980)tcG>tcA		Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.		C		0,4310		0,0,2155	74	77	76		1980	-10.7	0	5		76	1,8519		0,1,4259	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6414	TT,TC,CC		0.0117,0.0,0.0078		660/1462	160047790	1,12829	2155	4260	6415	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047790C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1980G>A	5.37:g.160047790C>T						ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.3_Silent_p.S218S	p.S660S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	2827	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	660					Q9H725	Silent	SNP	ENST00000327245.5	37	c.1980G>A	CCDS43394.1																																																																																				0.572	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160047790	C	T	160047790	2	4	249	1	0	0	0	0	0	0	0	1	1117	639	23	2		2	ATP10B	5	160047790	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	32435962	160047790	20867470	21	17701											
NKAPL	222698	broad.mit.edu	37	chr6	28228340	28228340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtgcacaaaaagacaaaAgagaaagatgacaagtaagg	22	4	11	4	0	0	4	0	1	0	3	0	5	0	4	0	2	1	2	0	2	7	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28228340A>G	ENST00000343684.3	+	1	1243	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	397										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAAAGACAAAAGAGAAAGATG	0.368																																						uc003nkt.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1189-1191)aaA>aaG		Homo sapiens NFKB activating protein-like (NKAPL), mRNA.							64	61	62					6																	28228340		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28228340A>G	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1191A>G	6.37:g.28228340A>G						ZKSCAN4_uc011dlb.1_5'Flank	p.K397K	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			0	1243	+			397					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.1191A>G	CCDS34353.1																																																																																				0.368	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			G	28228340	A	G	28228340	2	3	249	1	0	0	0	0	0	0	0	1	10440	69	3	4		4	NKAPL	6	28228340	Silent	SNP	A	TCGA-41-4097-01A-01D-1353-08		28228340	142886727	22	17702											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333384	28333384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgccacaggagggaggcgGcacatctgccatgaatgtgg	11	6	15	9	1	1	1	0	1	1	0	1	3	1	3	2	5	2	1	2	5	2	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28333384G>A	ENST00000377255.3	+	7	1236	c.939G>A	c.(937-939)cgG>cgA	p.R313R	ZKSCAN3_ENST00000341464.5_Silent_p.R165R|ZKSCAN3_ENST00000252211.2_Silent_p.R313R	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	313					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAGGGAGGCGGCACATCTGCC	0.493																																						uc010jrc.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(937-939)cgG>cgA		Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.							107	96	100					6																	28333384		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333384G>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.939G>A	6.37:g.28333384G>A						ZKSCAN3_uc003nle.4_Silent_p.R313R|ZKSCAN3_uc003nlf.4_Silent_p.R165R	p.R313R	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN			6	1272	+			313					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.939G>A	CCDS4650.1																																																																																				0.493	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		A	28333384	G	A	28333384	2	1	249	1	0	0	0	0	0	0	0	1	17685	1190	42	3		3	ZKSCAN3	6	28333384	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	105044	28333384	142781683	23	17703											
MDC1	9656	broad.mit.edu	37	chr6	30671653	30671653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggcaggctcaggaatGgctgtaagggattcagctgc	10	7	17	7	0	2	1	2	0	0	1	2	4	2	3	0	6	2	5	0	6	2	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:30671653G>A	ENST00000376406.3	-	10	5954	c.5307C>T	c.(5305-5307)gcC>gcT	p.A1769A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1505A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1769	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGAATGGCTGTAAGGG	0.542								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5305-5307)gcC>gcT	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							74	69	71					6																	30671653		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671653G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5307C>T	6.37:g.30671653G>A						MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	p.A1769A	NM_014641	NP_055456	Q14676	MDC1_HUMAN			9	5747	-			1769			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.5307C>T	CCDS34384.1																																																																																				0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30671653	G	A	30671653	2	1	249	1	0	0	0	0	0	0	0	1	9403	1335	47	3		3	MDC1	6	30671653	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	2338269	30671653	140443414	24	17704											
AIF1	199	broad.mit.edu	37	chr6	31584614	31584614	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctgatgtatgaggaaaaAgcgagagaaaaggaaaagcc	19	5	12	5	1	0	3	0	2	0	1	1	7	1	5	2	2	2	1	2	2	7	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:31584614A>G	ENST00000376059.3	+	6	527	c.381A>G	c.(379-381)aaA>aaG	p.K127K	AIF1_ENST00000376049.4_Silent_p.K73K	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	127					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						ATGAGGAAAAAGCGAGAGAAA	0.493																																					Ovarian(23;358 734 36938 38933 52312)	uc003nuy.3																			0				lung(2)|ovary(1)	3						c.(379-381)aaA>aaG		Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.							76	75	75					6																	31584614		2203	4300	6503	SO:0001819	synonymous_variant	199				actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	g.chr6:31584614A>G	U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"EF-hand domain containing"	352	protein-coding gene	gene with protein product	"interferon gamma responsive transcript", "ionized calcium-binding adapter molecule 1"	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.381A>G	6.37:g.31584614A>G						AIF1_uc010jsy.3_3'UTR|AIF1_uc003nva.3_Silent_p.K73K	p.K127K	NM_001623	NP_116573	P55008	AIF1_HUMAN			5	455	+			127					A8K406|O43904|Q9UIV4|Q9UKS9	Silent	SNP	ENST00000376059.3	37	c.381A>G	CCDS4706.1																																																																																				0.493	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076512.3			G	31584614	A	G	31584614	2	3	249	1	0	0	0	0	0	0	0	1	424	69	3	4		4	AIF1	6	31584614	Silent	SNP	A	TCGA-41-4097-01A-01D-1353-08	912961	31584614	139530453	25	17705											
C6orf70	55780	broad.mit.edu	37	chr6	170156477	170156477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtctacaatctcCtgctatttctcttagcttaa	10	16	5	10	0	3	0	0	0	3	0	5	1	3	1	1	1	3	2	1	1	6	6			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:170156477C>A	ENST00000366773.3	+	4	392	c.359C>A	c.(358-360)cCt>cAt	p.P120H	ERMARD_ENST00000392095.4_5'UTR|ERMARD_ENST00000418781.3_Missense_Mutation_p.P120H|ERMARD_ENST00000588451.1_5'UTR|ERMARD_ENST00000366772.2_Missense_Mutation_p.P120H	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	120					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTACAATCTCCTGCTATTTCT	0.348																																						uc003qxg.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(358-360)cCt>cAt		Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.							116	112	113					6																	170156477		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170156477C>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.359C>A	6.37:g.170156477C>A	ENSP00000355735:p.Pro120His					C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Missense_Mutation_p.P120H|C6orf70_uc010kky.1_5'UTR	p.P120H	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	3	392	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	120					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.359C>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729493	0.30684	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.43294	0.95	5.75	3.91	0.45181	.	1.003210	0.08034	N	0.993963	T	0.31702	0.0805	L	0.47716	1.5	0.20307	N	0.999916	D;P	0.56287	0.975;0.855	P;P	0.53313	0.723;0.533	T	0.20940	-1.0260	10	0.66056	D	0.02	.	6.8187	0.23845	0.1423:0.709:0.0:0.1487	.	120;120	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	H	120	ENSP00000355735:P120H	ENSP00000355734:P120H	P	+	2	0	C6orf70	169898402	0.002000	0.14202	0.002000	0.10522	0.175000	0.22909	1.679000	0.37597	1.423000	0.47198	0.563000	0.77884	CCT		0.348	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		A	170156477	C	A	170156477	3	1	249	1	0	0	0	0	1	0	0	0	2370	681	24	5	373	5	C6orf70	6	170156477	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	138571863	170156477	958590	26	17706											
IQCE	23288	broad.mit.edu	37	chr7	2613077	2613077	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgggactcctgtctaCagagaaaaagaagatatgta	14	9	10	8	0	1	3	0	0	1	3	3	5	3	4	2	1	1	1	2	1	6	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:2613077C>A	ENST00000402050.2	+	6	604	c.420C>A	c.(418-420)taC>taA	p.Y140*	IQCE_ENST00000438376.2_Nonsense_Mutation_p.Y124*|IQCE_ENST00000404984.1_Nonsense_Mutation_p.Y89*|IQCE_ENST00000325979.7_Nonsense_Mutation_p.Y75*	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	140						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTCCTGTCTACAGAGAAAAAG	0.343																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(418-420)taC>taA		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							154	140	144					7																	2613077		1847	4084	5931	SO:0001587	stop_gained	23288							g.chr7:2613077C>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.420C>A	7.37:g.2613077C>A	ENSP00000385597:p.Tyr140*					IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smo.4_Nonsense_Mutation_p.Y140*|IQCE_uc003smk.4_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.4_Nonsense_Mutation_p.Y75*	p.Y140*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	5	604	+		Ovarian(82;0.0112)	140					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Nonsense_Mutation	SNP	ENST00000402050.2	37	c.420C>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657088	0.96724	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	.	.	.	5.46	4.39	0.52855	.	0.064498	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6751	14.0415	0.64678	0.0:0.9116:0.0:0.0884	.	.	.	.	X	140;89;176;124;75;75;75	.	ENSP00000313772:Y75X	Y	+	3	2	IQCE	2579603	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.303000	0.43646	2.555000	0.86185	0.655000	0.94253	TAC		0.343	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		A	2613077	C	A	2613077	4	1	249	1	0	0	0	0	0	1	0	0	7806	489	17	5	442	5	IQCE	7	2613077	Nonsense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		2613077	156525586	27	17707											
MMD2	221938	broad.mit.edu	37	chr7	4947054	4947054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaccttggtctgcagggtGctgggcagatagaggtacct	8	9	15	9	0	1	2	0	0	1	2	1	3	1	2	2	4	3	4	2	4	2	3	rs549881451		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:4947054G>T	ENST00000404774.3	-	7	980	c.786C>A	c.(784-786)agC>agA	p.S262R	MMD2_ENST00000401401.3_Missense_Mutation_p.S238R|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	262						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCTGCAGGGTGCTGGGCAGAT	0.542																																						uc003sno.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14						c.(784-786)agC>agA		Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.							100	99	99					7																	4947054		2015	4180	6195	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947054G>T	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.786C>A	7.37:g.4947054G>T	ENSP00000384690:p.Ser262Arg					MMD2_uc003snl.1_Intron|MMD2_uc003snn.4_Missense_Mutation_p.S238R|MMD2_uc010ksq.3_3'UTR	p.S262R	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	6	982	-		Ovarian(82;0.0175)	262					B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.786C>A	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427742	0.43122	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	.	.	.	5.43	5.43	0.79202	.	0.589019	0.18994	N	0.125534	T	0.28067	0.0692	N	0.14661	0.345	0.29829	N	0.830188	P;B	0.36909	0.573;0.178	B;B	0.38500	0.275;0.091	T	0.12941	-1.0528	9	0.20046	T	0.44	-19.255	13.1443	0.59452	0.0:0.0:0.8409:0.1591	.	262;238	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	R	262;238	.	ENSP00000384141:S238R	S	-	3	2	MMD2	4913580	0.358000	0.24947	1.000000	0.80357	0.986000	0.74619	1.088000	0.30877	2.552000	0.86080	0.650000	0.86243	AGC		0.542	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		T	4947054	G	T	4947054	3	4	249	1	0	0	0	0	1	0	0	0	9644	1310	46	5	30	5	MMD2	7	4947054	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2333977	4947054	154191609	28	17708											
MLL3	58508	broad.mit.edu	37	chr7	151945049	151945049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagctggtttacccatgcCaatttttggagtgactgaga	11	13	10	7	0	0	2	0	2	0	1	0	4	0	3	2	2	3	2	2	2	4	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:151945049C>G	ENST00000262189.6	-	14	2688	c.2470G>C	c.(2470-2472)Ggc>Cgc	p.G824R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G824R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	824					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTACCCATGCCAATTTTTGGA	0.408																																						uc003wla.3										N							medulloblastoma		0		p.I823fs*5(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(2470-2472)Ggc>Cgc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							322	268	286					7																	151945049		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945049C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2470G>C	7.37:g.151945049C>G	ENSP00000262189:p.Gly824Arg						p.G824R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	13	2689	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	824					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2470G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.54|19.54	3.846490|3.846490	0.71603|0.71603	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.93811|.	-3.25;-3.29|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.47455|.	D|.	0.000234|.	T|T	0.60818|0.60818	0.2298|0.2298	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.54043|0.54043	-0.8352|-0.8352	10|5	0.72032|.	D|.	0.01|.	.|.	19.7692|19.7692	0.96356|0.96356	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	824|.	Q8NEZ4|.	MLL3_HUMAN|.	R|S	824|19	ENSP00000262189:G824R;ENSP00000347325:G824R|.	ENSP00000262189:G824R|.	G|W	-|-	1|2	0|0	MLL3|MLL3	151575982|151575982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.484000|7.484000	0.81180|0.81180	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151945049	C	G	151945049	3	3	249	1	0	0	0	0	1	0	0	0	9622	594	21	5	12449	5	MLL3	7	151945049	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	146997995	151945049	7193614	29	17709											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871746	1871746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaattcagttacagcttcCcgggaagcaggacaagttag	13	8	11	9	1	1	1	1	0	0	1	2	3	2	3	1	2	3	4	1	2	5	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:1871746C>T	ENST00000398564.1	+	20	2447	c.2447C>T	c.(2446-2448)cCc>cTc	p.P816L	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.P816L|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.P815L|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.P791L|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.P753L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	816					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTACAGCTTCCCGGGAAGCAG	0.423																																						uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2371-2373)cCc>cTc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							67	75	72					8																	1871746		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871746C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2447C>T	8.37:g.1871746C>T	ENSP00000381571:p.Pro816Leu					ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.3_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.3_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.3_Missense_Mutation_p.P471L	p.P791L	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2550	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	816					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2372C>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.470384	0.84533	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.991	T	0.61792	-0.6990	10	0.87932	D	0	-27.1954	18.3556	0.90356	0.0:1.0:0.0:0.0	.	816;753;791	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	L	791;753;815;816;816;464	ENSP00000340297:P791L;ENSP00000427909:P753L;ENSP00000431012:P815L;ENSP00000381571:P816L;ENSP00000262112:P816L;ENSP00000427768:P464L	ENSP00000262112:P816L	P	+	2	0	ARHGEF10	1859153	1.000000	0.71417	0.679000	0.29978	0.755000	0.42902	5.389000	0.66255	2.314000	0.78098	0.655000	0.94253	CCC		0.423	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				T	1871746	C	T	1871746	3	4	249	1	0	0	0	0	1	0	0	0	894	623	22	3	2446	3	ARHGEF10	8	1871746	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		1871746	144492276	30	17710											
CSPP1	79848	broad.mit.edu	37	chr8	68024278	68024278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgttggaacaaatggctGagcaacagaggaacaagaga	18	5	12	6	0	0	3	0	1	0	2	0	6	0	5	0	3	5	3	0	3	6	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:68024278G>A	ENST00000262210.5	+	9	1223	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CSPP1_ENST00000412460.1_Missense_Mutation_p.E104K	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	433					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAATGGCTGAGCAACAGAG	0.353																																						uc003xxi.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1297-1299)Gag>Aag		Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.							146	146	146					8																	68024278		1875	4105	5980	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68024278G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1192G>A	8.37:g.68024278G>A	ENSP00000262210:p.Glu398Lys					CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.E398K|CSPP1_uc003xxk.3_Missense_Mutation_p.E104K	p.E433K	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		10	1328	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	433					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1297G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483269	0.63962	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.48836	0.8;0.83;0.83	5.35	4.42	0.53409	.	0.092488	0.44097	D	0.000486	T	0.49253	0.1546	L	0.58101	1.795	0.30874	N	0.732207	B;P;B;B	0.40083	0.101;0.702;0.167;0.167	B;B;B;B	0.40864	0.098;0.342;0.124;0.124	T	0.61874	-0.6973	10	0.72032	D	0.01	-10.3344	16.6359	0.85059	0.0:0.1417:0.8583:0.0	.	104;398;433;433	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	K	398;433;104;104	ENSP00000262210:E398K;ENSP00000415782:E104K;ENSP00000430092:E104K	ENSP00000262210:E398K	E	+	1	0	CSPP1	68186832	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.319000	0.65835	2.514000	0.84764	0.491000	0.48974	GAG		0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		A	68024278	G	A	68024278	3	1	249	1	0	0	0	0	1	0	0	0	3962	1291	45	3	1339	3	CSPP1	8	68024278	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	66152532	68024278	78339744	31	17711											
SULF1	23213	broad.mit.edu	37	chr8	70512942	70512942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttacaaacattctacagcGcaaaaggctccagactttga	15	10	6	10	1	1	2	0	1	1	1	2	2	2	2	1	1	4	2	1	1	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:70512942G>A	ENST00000260128.4	+	9	1556	c.839G>A	c.(838-840)cGc>cAc	p.R280H	SULF1_ENST00000458141.2_Missense_Mutation_p.R280H|SULF1_ENST00000419716.3_Missense_Mutation_p.R280H|SULF1_ENST00000402687.4_Missense_Mutation_p.R280H|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	280					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTCTACAGCGCAAAAGGCTC	0.433																																						uc003xyg.2																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(838-840)cGc>cAc		Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.							164	156	158					8																	70512942		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512942G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.839G>A	8.37:g.70512942G>A	ENSP00000260128:p.Arg280His					SULF1_uc010lza.1_Missense_Mutation_p.R280H|SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_Non-coding_Transcript	p.R280H	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		7	1400	+	Breast(64;0.0654)		280					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.839G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089182	0.94100	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.83012	2.62	0.80722	D	1	P	0.43412	0.806	B	0.41466	0.358	D	0.96723	0.9534	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	280	Q8IWU6	SULF1_HUMAN	H	280	ENSP00000403040:R280H;ENSP00000260128:R280H;ENSP00000385704:R280H;ENSP00000390315:R280H	ENSP00000260128:R280H	R	+	2	0	SULF1	70675496	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGC		0.433	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		A	70512942	G	A	70512942	3	1	249	1	0	0	0	0	1	0	0	0	15369	1087	38	1	857	1	SULF1	8	70512942	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2488664	70512942	75851080	32	17712											
ZFHX4	79776	broad.mit.edu	37	chr8	77617628	77617628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctgagtctagcaagatGtcagagagcaaagaccaaga	15	7	11	8	1	3	5	1	1	2	4	4	6	3	5	1	0	2	2	1	0	4	1	rs529333807		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:77617628G>A	ENST00000521891.2	+	2	1753	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.M435I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M435I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M435I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCAAGATGTCAGAGAGCA	0.488										HNSCC(33;0.089)			G|||	1	0.000199681	0	0	5008	,	,		18782	0		0.001	False		,,,				2504	0					uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1303-1305)atG>atA		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							53	52	52					8																	77617628		1982	4175	6157	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617628G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1305G>A	8.37:g.77617628G>A	ENSP00000430497:p.Met435Ile	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	p.M435I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		1	1692	+			435					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1305G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	5.837	0.338711	0.11069	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46451	0.87;0.92;0.88;0.87	5.5	4.63	0.57726	.	0.150964	0.31427	U	0.007664	T	0.21962	0.0529	N	0.08118	0	0.28842	N	0.896556	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.11941	-1.0567	10	0.19590	T	0.45	.	11.3335	0.49490	0.1441:0.0:0.8559:0.0	.	435;435;435;435	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	435	ENSP00000430497:M435I;ENSP00000399605:M435I;ENSP00000050961:M435I;ENSP00000430848:M435I	ENSP00000050961:M435I	M	+	3	0	ZFHX4	77780183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.317000	0.59184	1.561000	0.49584	0.655000	0.94253	ATG		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77617628	G	A	77617628	3	1	249	1	0	0	0	0	1	0	0	0	17632	1377	48	3	1307	3	ZFHX4	8	77617628	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	7104686	77617628	68746394	33	17713											
RGS22	26166	broad.mit.edu	37	chr8	101018320	101018320	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggagtctaactgtcgagtTtcttccaccagctccaccta	8	12	8	13	1	2	0	0	0	2	0	5	2	4	1	4	1	2	2	4	1	2	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:101018320T>C	ENST00000360863.6	-	16	2573	c.2379A>G	c.(2377-2379)gaA>gaG	p.E793E	RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523287.1_Silent_p.E612E|RGS22_ENST00000523437.1_Silent_p.E781E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	793					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373																																						uc003yjb.1																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2377-2379)gaA>gaG		Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.							85	78	80					8																	101018320		1824	4087	5911	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101018320T>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2379A>G	8.37:g.101018320T>C						RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.E182E	p.E793E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		15	2574	-			793					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.2379A>G	CCDS43758.1																																																																																				0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		C	101018320	T	C	101018320	2	2	249	1	0	0	0	0	0	0	0	1	13305	1838	64	4		4	RGS22	8	101018320	Silent	SNP	T	TCGA-41-4097-01A-01D-1353-08	23400692	101018320	45345702	34	17714											
ANKS6	203286	broad.mit.edu	37	chr9	101530526	101530526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacaagacattgtctatgCtgccacctgaggaaacacaa	14	7	10	10	0	1	2	0	1	1	1	1	4	1	4	2	2	3	1	2	2	4	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:101530526C>T	ENST00000353234.4	-	11	2026	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N	ANKS6_ENST00000375018.1_Missense_Mutation_p.S660N|ANKS6_ENST00000540940.1_Missense_Mutation_p.S465N|ANKS6_ENST00000375019.2_Missense_Mutation_p.S359N			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	660	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATTGTCTATGCTGCCACCTGA	0.537																																						uc004ayu.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1978-1980)aGc>aAc		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							61	62	62					9																	101530526		2033	4177	6210	SO:0001583	missense	203286							g.chr9:101530526C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1979G>A	9.37:g.101530526C>T	ENSP00000297837:p.Ser660Asn					ANKS6_uc004ayv.2_Missense_Mutation_p.S122N|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.S359N	p.S660N	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			10	2000	-		Acute lymphoblastic leukemia(62;0.0527)	660			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1979G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910617	0.92107	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.72051	1.53;-0.62;-0.62;1.8	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.63843	1.955	0.46798	D	0.999204	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	T	0.81289	-0.1000	10	0.46703	T	0.11	-29.643	17.7344	0.88388	0.0:1.0:0.0:0.0	.	660;660	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	N	359;660;660;465	ENSP00000364159:S359N;ENSP00000364158:S660N;ENSP00000297837:S660N;ENSP00000442189:S465N	ENSP00000297837:S660N	S	-	2	0	ANKS6	100570347	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.258000	0.72487	2.797000	0.96272	0.561000	0.74099	AGC		0.537	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		T	101530526	C	T	101530526	3	4	249	1	0	0	0	0	1	0	0	0	692	797	28	3	656	3	ANKS6	9	101530526	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		101530526	39682905	35	17715											
OR13C4	138804	broad.mit.edu	37	chr9	107288582	107288582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatattttatagcagctttTacatctttatttctcaagct	12	19	3	7	0	2	0	1	0	2	0	3	0	2	0	0	0	4	3	0	0	7	9			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:107288582T>C	ENST00000277216.3	-	1	908	c.909A>G	c.(907-909)gtA>gtG	p.V303V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGCAGCTTTTACATCTTTAT	0.373																																						uc011lvn.2																			0		p.V303L(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(907-909)gtA>gtG		Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.							55	61	59					9																	107288582		2203	4300	6503	SO:0001819	synonymous_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288582T>C		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.909A>G	9.37:g.107288582T>C							p.V303V	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			0	909	-			303					Q6IF51|Q96R41	Silent	SNP	ENST00000277216.3	37	c.909A>G	CCDS35088.1																																																																																				0.373	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			C	107288582	T	C	107288582	2	2	249	1	0	0	0	0	0	0	0	1	10936	1741	61	4		4	OR13C4	9	107288582	Silent	SNP	T	TCGA-41-4097-01A-01D-1353-08	5758056	107288582	33924849	36	17716											
SARDH	1757	broad.mit.edu	37	chr9	136594905	136594905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatcccctcgatgcgCtcggtgacgacataggcatg	9	8	11	13	4	0	2	0	2	0	0	3	4	1	2	3	2	1	2	3	2	2	1	rs141160856	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:136594905C>G	ENST00000371872.4	-	6	1154	c.897G>C	c.(895-897)gaG>gaC	p.E299D	SARDH_ENST00000422262.2_Missense_Mutation_p.E131D|SARDH_ENST00000298628.5_Missense_Mutation_p.E299D|SARDH_ENST00000371867.1_Missense_Mutation_p.E210D|SARDH_ENST00000439388.1_Missense_Mutation_p.E299D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	299					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCGATGCGCTCGGTGACGA	0.632																																						uc004cep.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(895-897)gaG>gaC		Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.		C	ASP/GLU,ASP/GLU	4,4402	8.1+/-20.4	0,4,2199	102	84	90		897,897	-0.2	1	9	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	SARDH	NM_001134707.1,NM_007101.3	45,45	0,4,6499	GG,GC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	299/919,299/919	136594905	4,13002	2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594905C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.897G>C	9.37:g.136594905C>G	ENSP00000360938:p.Glu299Asp					SARDH_uc004ceo.3_Missense_Mutation_p.E299D|SARDH_uc011mdo.2_Missense_Mutation_p.E131D|SARDH_uc011mdn.2_Missense_Mutation_p.E299D	p.E299D	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	5	1031	-			299					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.897G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594778	0.66219	9.08E-4	0.0	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	T;T;T;D;D	0.82344	1.28;1.28;1.28;-1.6;-1.6	5.02	-0.153	0.13403	FAD dependent oxidoreductase (1);	0.051601	0.85682	D	0.000000	D	0.86904	0.6045	L	0.60067	1.865	0.50632	D	0.999887	D	0.89917	1.0	D	0.97110	1.0	D	0.84444	0.0584	10	0.54805	T	0.06	-35.195	10.8795	0.46929	0.0:0.6153:0.0:0.3847	.	299	Q9UL12	SARDH_HUMAN	D	299;299;131;299;299;299;210;277;299	ENSP00000360938:E299D;ENSP00000403084:E299D;ENSP00000415537:E131D;ENSP00000360933:E210D;ENSP00000298628:E299D	ENSP00000298628:E299D	E	-	3	2	SARDH	135584726	1.000000	0.71417	0.956000	0.39512	0.873000	0.50193	1.210000	0.32370	-0.061000	0.13110	0.467000	0.42956	GAG		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			G	136594905	C	G	136594905	3	3	249	1	0	0	0	0	1	0	0	0	13841	796	28	5	1923	5	SARDH	9	136594905	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	29306323	136594905	4618526	37	17717											
ZMIZ1	57178	broad.mit.edu	37	chr10	81066012	81066012	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgcccaatgtcatggAgatgatcgcagccctgggcc	9	8	12	12	1	2	2	2	1	0	1	3	4	2	2	3	2	2	1	3	2	1	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:81066012A>C	ENST00000334512.5	+	22	3151	c.2579A>C	c.(2578-2580)gAg>gCg	p.E860A	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.E13A	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	860					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AATGTCATGGAGATGATCGCA	0.612																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2578-2580)gAg>gCg		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							72	68	69					10																	81066012		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81066012A>C	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2579A>C	10.37:g.81066012A>C	ENSP00000334474:p.Glu860Ala					ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	p.E860A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		21	3151	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		860					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2579A>C	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541451	0.85917	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.35973	1.28	4.82	4.82	0.62117	.	0.000000	0.41938	D	0.000792	T	0.44561	0.1299	M	0.72118	2.19	0.80722	D	1	D;P	0.54964	0.969;0.774	P;B	0.46975	0.533;0.397	T	0.46911	-0.9157	10	0.40728	T	0.16	-10.4552	14.6924	0.69096	1.0:0.0:0.0:0.0	.	13;860	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	A	860;790;762;13	ENSP00000334474:E860A	ENSP00000334474:E860A	E	+	2	0	ZMIZ1	80736018	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.930000	0.92872	1.946000	0.56461	0.260000	0.18958	GAG		0.612	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		C	81066012	A	C	81066012	3	2	249	1	0	0	0	0	1	0	0	0	17693	304	11	5	2649	5	ZMIZ1	10	81066012	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08		81066012	54468735	38	17718											
PTEN	5728	broad.mit.edu	37	chr10	89690814	89690814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttagttgtgctgaaaGacattatgacaccgccaaat	12	14	7	8	1	1	3	0	2	1	1	1	3	1	3	2	0	1	2	2	0	4	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:89690814G>C	ENST00000371953.3	+	4	1578	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	74	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73fs*25(1)|p.R74fs*25(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCTGAAAGACATTATGAC	0.313		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Deletion - Frameshift(16)|Unknown(6)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.E73fs*25(2)|p.Y27fs*1(2)|p.R74fs*25(2)|p.Y27_N212>Y(2)|p.E73*(1)|p.R74I(1)|p.E73fs*4(1)|p.E73V(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|breast(7)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(220-222)aGa>aCa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							78	73	75					10																	89690814		2202	4295	6497	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690814G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.221G>C	10.37:g.89690814G>C	ENSP00000361021:p.Arg74Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R74T	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1253	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	74			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.221G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166531	0.94768	.	.	ENSG00000171862	ENST00000371953	D	0.98512	-4.97	5.62	5.62	0.85841	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98903	1.0777	9	.	.	.	-12.5269	20.0185	0.97487	0.0:0.0:1.0:0.0	.	74	P60484	PTEN_HUMAN	T	74	ENSP00000361021:R74T	.	R	+	2	0	PTEN	89680794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	AGA		0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89690814	G	C	89690814	3	2	249	1	0	0	0	0	1	0	0	0	12738	942	33	5	235	5	PTEN	10	89690814	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	8624802	89690814	45843933	39	17719											
PRLHR	2834	broad.mit.edu	37	chr10	120354176	120354176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgataggtgtgcacggcgGcgggcagcgccagcaccgcg	6	4	18	13	7	0	1	0	1	0	0	0	1	0	1	2	4	3	3	2	4	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:120354176G>A	ENST00000369169.1	-	1	580	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PRLHR_ENST00000239032.2_Missense_Mutation_p.A194V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	194				A -> P (in Ref. 1; AAC50504). {ECO:0000305}.	feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTGCACGGCGGCGGGCAGCGC	0.716																																						uc001ldp.1																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(580-582)gCc>gTc		Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.							10	12	11					10																	120354176		2186	4261	6447	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354176G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.581C>T	10.37:g.120354176G>A	ENSP00000358167:p.Ala194Val					PRLHR_uc021pzm.1_Missense_Mutation_p.A194V	p.A194V	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	1	720	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	194	A -> P (in Ref. 1; AAC50504).				O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.581C>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944253	0.34283	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.36340	1.26;1.26	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.31476	0.935	0.58432	D	0.999999	P	0.40398	0.716	B	0.42319	0.383	T	0.03784	-1.1004	10	0.17369	T	0.5	.	17.4676	0.87638	0.0:0.0:1.0:0.0	.	194	P49683	PRLHR_HUMAN	V	194	ENSP00000239032:A194V;ENSP00000358167:A194V	ENSP00000239032:A194V	A	-	2	0	PRLHR	120344166	1.000000	0.71417	0.969000	0.41365	0.671000	0.39405	7.701000	0.84566	2.355000	0.79922	0.655000	0.94253	GCC		0.716	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		A	120354176	G	A	120354176	3	1	249	1	0	0	0	0	1	0	0	0	12530	1203	42	3	535	3	PRLHR	10	120354176	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	30663362	120354176	15180571	40	17720											
INPP5A	3632	broad.mit.edu	37	chr10	134523875	134523875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatatccatcttttccatGatgcttccaatctggtcgcc	8	15	6	12	1	2	2	0	2	2	0	6	2	5	2	4	1	1	1	4	1	3	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:134523875G>C	ENST00000368594.3	+	8	839	c.562G>C	c.(562-564)Gat>Cat	p.D188H	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.D188H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	188					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCTTTTCCATGATGCTTCCAA	0.562																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(562-564)Gat>Cat		Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.							99	79	86					10																	134523875		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134523875G>C	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.562G>C	10.37:g.134523875G>C	ENSP00000357583:p.Asp188His					INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.3_Missense_Mutation_p.D140H	p.D188H	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	7	810	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	188					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.562G>C	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358298|4.358298	0.82243|0.82243	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000536599;ENST00000432898;ENST00000423490|ENST00000342652	T;T;T|.	0.46063|.	0.88;0.88;0.88|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.183945|.	0.48767|.	D|.	0.000169|.	T|.	0.71082|.	0.3298|.	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.994;1.0|.	D;D;D|.	0.78314|.	0.991;0.944;0.981|.	T|.	0.70339|.	-0.4899|.	10|.	0.41790|.	T|.	0.15|.	-27.6104|-27.6104	17.7848|17.7848	0.88534|0.88534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;188;188|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	H|S	188;188;188;125;105;111|159	ENSP00000357583:D188H;ENSP00000357582:D188H;ENSP00000390936:D111H|.	ENSP00000357582:D188H|.	D|X	+|+	1|2	0|2	INPP5A|INPP5A	134373865|134373865	1.000000|1.000000	0.71417|0.71417	0.854000|0.854000	0.33618|0.33618	0.962000|0.962000	0.63368|0.63368	8.621000|8.621000	0.90949|0.90949	2.281000|2.281000	0.76405|0.76405	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.562	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		C	134523875	G	C	134523875	3	2	249	1	0	0	0	0	1	0	0	0	7754	1290	45	5	592	5	INPP5A	10	134523875	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	14169699	134523875	1010872	41	17721											
BBOX1	8424	broad.mit.edu	37	chr11	27114719	27114719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttatcaattcacagaatgCcaatactggggctcagagct	12	12	8	9	0	3	2	3	0	0	2	3	2	3	2	1	2	3	2	1	2	5	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:27114719C>T	ENST00000529202.1	+	4	678	c.339C>T	c.(337-339)tgC>tgT	p.C113C	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Silent_p.C113C|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000528583.1_Silent_p.C113C|BBOX1_ENST00000263182.3_Silent_p.C113C|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	113					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCACAGAATGCCAATACTGGG	0.393																																						uc001mre.1																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(337-339)tgC>tgT		Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	Succinic acid(DB00139)|Vitamin C(DB00126)						48	49	49					11																	27114719		2202	4298	6500	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27114719C>T	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.339C>T	11.37:g.27114719C>T						BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C|BBOX1_uc021qfd.1_Silent_p.C113C	p.C113C	NM_003986	NP_003977	O75936	BODG_HUMAN			4	707	+			113					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.339C>T	CCDS7862.1																																																																																				0.393	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		T	27114719	C	T	27114719	2	4	249	1	0	0	0	0	0	0	0	1	1334	747	26	3		3	BBOX1	11	27114719	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		27114719	107891797	42	17722											
SYT13	57586	broad.mit.edu	37	chr11	45274269	45274269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtcgtggttgctggtCacagctgcaggcaaggagaa	8	8	14	11	2	1	1	1	0	0	1	3	2	2	1	2	4	3	5	2	4	2	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:45274269C>A	ENST00000020926.3	-	4	660	c.549G>T	c.(547-549)gtG>gtT	p.V183V	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	183	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTTGCTGGTCACAGCTGCAG	0.587											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(547-549)gtG>gtT		Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.							63	60	61					11																	45274269		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45274269C>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.549G>T	11.37:g.45274269C>A			OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Silent_p.V39V	p.V183V	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN			3	675	-			183			C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.549G>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	0.725	-0.782204	0.02907	.	.	ENSG00000019505	ENST00000528101	.	.	.	5.85	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7133	0.45997	0.0:0.7919:0.1365:0.0716	.	.	.	.	L	143	.	.	X	-	2	2	SYT13	45230845	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	1.016000	0.29976	0.793000	0.33875	-0.258000	0.10820	TGA		0.587	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		A	45274269	C	A	45274269	2	1	249	1	0	0	0	0	0	0	0	1	15466	813	29	5		5	SYT13	11	45274269	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	18159550	45274269	89732247	43	17723											
KCTD14	65987	broad.mit.edu	37	chr11	77728030	77728030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccaaagatctgtGgcatgtcctccagcagcttg	8	10	9	14	0	2	1	1	0	1	1	4	1	4	1	4	1	3	4	4	1	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:77728030G>A	ENST00000353172.5	-	2	421	c.377C>T	c.(376-378)cCa>cTa	p.P126L	RP11-7I15.3_ENST00000533697.1_RNA|KCTD14_ENST00000533144.1_Missense_Mutation_p.P96L|NDUFC2-KCTD14_ENST00000528251.1_3'UTR	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	126	BTB.				protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAAGATCTGTGGCATGTCCTC	0.567																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(376-378)cCa>cTa		Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.							69	63	65					11																	77728030		2200	4292	6492	SO:0001583	missense	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77728030G>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.377C>T	11.37:g.77728030G>A	ENSP00000316482:p.Pro126Leu					NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	p.P126L	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		1	402	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		126			BTB.		B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	c.377C>T	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644437	0.67244	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.38077	1.16;1.16	4.76	4.76	0.60689	BTB/POZ-like (1);BTB/POZ fold (1);	0.056748	0.64402	N	0.000001	T	0.53786	0.1818	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.43940	-0.9360	10	0.19590	T	0.45	.	16.9636	0.86279	0.0:0.0:1.0:0.0	.	126	Q9BQ13	KCD14_HUMAN	L	126;96	ENSP00000316482:P126L;ENSP00000431155:P96L	ENSP00000316482:P126L	P	-	2	0	KCTD14	77405678	1.000000	0.71417	0.472000	0.27241	0.298000	0.27526	6.947000	0.75959	2.473000	0.83533	0.561000	0.74099	CCA		0.567	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		A	77728030	G	A	77728030	3	1	249	1	0	0	0	0	1	0	0	0	8101	1348	47	3	394	3	KCTD14	11	77728030	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	32453761	77728030	57278486	44	17724											
KDM4D	55693	broad.mit.edu	37	chr11	94731105	94731105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtggaaaaccacgtttgCttggcatacagaggacatgg	12	9	12	8	1	0	1	0	0	0	1	0	3	0	3	1	4	3	3	1	4	3	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:94731105C>T	ENST00000335080.5	+	3	1401	c.569C>T	c.(568-570)gCt>gTt	p.A190V	KDM4D_ENST00000536741.1_Missense_Mutation_p.A190V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	190	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACGTTTGCTTGGCATACA	0.512																																						uc021qow.1																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(568-570)gCt>gTt		Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.							149	143	145					11																	94731105		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731105C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.569C>T	11.37:g.94731105C>T	ENSP00000334181:p.Ala190Val					KDM4D_uc001pfe.3_Missense_Mutation_p.A190V	p.A190V	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			0	569	+			190			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.569C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929417	0.73327	.	.	ENSG00000186280	ENST00000335080	T	0.72282	-0.64	3.88	3.88	0.44766	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000002	D	0.86781	0.6015	M	0.92555	3.32	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	D	0.89823	0.3990	10	0.87932	D	0	-17.0508	14.1827	0.65586	0.0:1.0:0.0:0.0	.	190	Q6B0I6	KDM4D_HUMAN	V	190	ENSP00000334181:A190V	ENSP00000334181:A190V	A	+	2	0	KDM4D	94370753	1.000000	0.71417	0.199000	0.23439	0.539000	0.34962	7.309000	0.78937	2.467000	0.83353	0.462000	0.41574	GCT		0.512	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		T	94731105	C	T	94731105	3	4	249	1	0	0	0	0	1	0	0	0	8131	797	28	3	571	3	KDM4D	11	94731105	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	17003075	94731105	40275411	45	17725											
MLL	4297	broad.mit.edu	37	chr11	118359396	118359396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaacgagcgccctcTggaggaccagctggaaaatt	13	5	14	9	2	1	2	0	0	1	2	1	7	1	5	2	4	3	1	2	4	3	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:118359396T>C	ENST00000389506.5	+	11	4400	c.4400T>C	c.(4399-4401)cTg>cCg	p.L1467P	KMT2A_ENST00000354520.4_Missense_Mutation_p.L1429P|KMT2A_ENST00000534358.1_Missense_Mutation_p.L1467P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1467					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGCGCCCTCTGGAGGACCAG	0.433																																						uc001pta.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(4399-4401)cTg>cCg		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.							130	117	121					11																	118359396		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118359396T>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4400T>C	11.37:g.118359396T>C	ENSP00000374157:p.Leu1467Pro					MLL_uc001ptb.3_Missense_Mutation_p.L1467P|MLL_uc001pte.1_Non-coding_Transcript	p.L1467P	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	10	4423	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1467					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4400T>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983106	0.53827	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.52	4.38	0.52667	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.89691	0.6788	M	0.64997	1.995	0.80722	D	1	D;P	0.63880	0.993;0.612	P;B	0.56088	0.791;0.347	D	0.87873	0.2672	10	0.51188	T	0.08	.	5.3657	0.16113	0.1295:0.1402:0.0:0.7303	.	1467;1467	E9PQG7;Q03164	.;MLL1_HUMAN	P	1467;1467;1429;377;179	ENSP00000436786:L1467P;ENSP00000374157:L1467P;ENSP00000346516:L1429P;ENSP00000376612:L179P	ENSP00000346516:L1429P	L	+	2	0	MLL	117864606	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.008000	0.49544	1.021000	0.39600	0.533000	0.62120	CTG		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118359396	T	C	118359396	3	2	249	1	0	0	0	0	1	0	0	0	9620	1580	55	4	4442	4	MLL	11	118359396	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	23628291	118359396	16647120	46	17726											
OR4D5	219875	broad.mit.edu	37	chr11	123810626	123810626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggatgcctgactcaactCttcttcttccacttcattgg	6	15	8	12	0	5	1	2	1	3	0	6	2	6	2	2	3	2	0	2	3	1	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123810626C>T	ENST00000307033.2	+	1	377	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACTCAACTCTTCTTCTTCC	0.507																																						uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(301-303)ctC>ctT		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.							130	110	117					11																	123810626		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810626C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.303C>T	11.37:g.123810626C>T							p.L101L	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	303	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.303C>T	CCDS31699.1																																																																																				0.507	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		T	123810626	C	T	123810626	2	4	249	1	0	0	0	0	0	0	0	1	11057	900	32	3		3	OR4D5	11	123810626	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	5451230	123810626	11195890	47	17727											
OR10S1	219873	broad.mit.edu	37	chr11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccacagtagagcaggCggaaggtgagggaggtgtgg	11	4	20	6	1	0	2	0	1	0	1	0	4	0	4	1	7	1	2	1	7	3	1	rs141270826		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552																																						uc001pzm.1																			0		p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(535-537)cGc>cAc		Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.		C	HIS/ARG	0,4404		0,0,2202	102	88	92		536	-9.8	0.1	11	dbSNP_134	92	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10S1	NM_001004474.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	179/332	123847863	1,13001	2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847863C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.536G>A	11.37:g.123847863C>T	ENSP00000431914:p.Arg179His						p.R179H	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	536	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.536G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	OR10S1	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		T	123847863	C	T	123847863	3	4	249	1	0	0	0	0	1	0	0	0	10918	768	27	1	463	1	OR10S1	11	123847863	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	37237	123847863	11158653	48	17728											
PATE2	399967	broad.mit.edu	37	chr11	125648646	125648646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagagcagaaagactgtgCccaggagaaagagaacaagc	17	2	14	8	0	0	5	0	0	0	5	0	7	0	5	1	2	4	2	1	2	4	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:125648646C>T	ENST00000358524.3	-	1	68	c.23G>A	c.(22-24)gGc>gAc	p.G8D	PATE2_ENST00000436890.2_Missense_Mutation_p.G8D	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	8						extracellular space (GO:0005615)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AAAGACTGTGCCCAGGAGAAA	0.522																																						uc001qcu.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(22-24)gGc>gAc		Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.							87	86	87					11																	125648646		2201	4299	6500	SO:0001583	missense	399967					extracellular space		g.chr11:125648646C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"PATE family"	32249	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 38"	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.23G>A	11.37:g.125648646C>T	ENSP00000351325:p.Gly8Asp					PATE2_uc010sbj.2_Missense_Mutation_p.G8D	p.G8D	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN			0	69	-			8					B2RNZ2|B7ZMG4	Missense_Mutation	SNP	ENST00000358524.3	37	c.23G>A	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	C	3.844	-0.033210	0.07543	.	.	ENSG00000196844	ENST00000358524;ENST00000436890	D	0.91894	-2.93	4.27	0.143	0.14820	.	1.631630	0.03006	N	0.148761	D	0.82518	0.5054	N	0.08118	0	0.09310	N	1	P;P	0.37207	0.587;0.587	B;B	0.40066	0.318;0.318	T	0.75402	-0.3330	10	0.18276	T	0.48	-14.6583	3.2599	0.06845	0.1908:0.5004:0.0:0.3088	.	8;8	Q6UY27-2;Q6UY27	.;PATE2_HUMAN	D	8	ENSP00000351325:G8D	ENSP00000351325:G8D	G	-	2	0	PATE2	125153856	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.457000	0.06745	0.034000	0.15491	0.591000	0.81541	GGC		0.522	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		T	125648646	C	T	125648646	3	4	249	1	0	0	0	0	1	0	0	0	11474	739	26	3	334	3	PATE2	11	125648646	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	1800783	125648646	9357870	49	17729											
ANO2	57101	broad.mit.edu	37	chr12	5687643	5687643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaaacacaggtgccagggGaaaggaggccacgaagaggg	14	1	18	8	1	0	1	0	0	0	1	0	4	0	3	2	7	2	1	2	7	3	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:5687643G>C	ENST00000356134.5	-	23	2349	c.2278C>G	c.(2278-2280)Ccc>Gcc	p.P760A	ANO2_ENST00000327087.8_Missense_Mutation_p.P759A|ANO2_ENST00000546188.1_Missense_Mutation_p.P760A	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	764					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTGCCAGGGGAAAGGAGGCC	0.537																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2275-2277)Ccc>Gcc		Homo sapiens anoctamin 2 (ANO2), mRNA.							69	76	74					12																	5687643		2071	4200	6271	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687643G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2278C>G	12.37:g.5687643G>C	ENSP00000348453:p.Pro760Ala						p.P759A	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			21	2347	-			764					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2275C>G		.	.	.	.	.	.	.	.	.	.	G	25.3	4.621835	0.87460	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.78816	-1.21;-1.21;-1.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94662	0.7849	10	0.87932	D	0	.	16.9734	0.86306	0.0:0.0:1.0:0.0	.	759	Q9NQ90-3	.	A	759;760;760;764	ENSP00000314048:P759A;ENSP00000348453:P760A;ENSP00000440981:P760A	ENSP00000314048:P759A	P	-	1	0	ANO2	5557904	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.657000	0.98554	2.493000	0.84123	0.655000	0.94253	CCC		0.537	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		C	5687643	G	C	5687643	3	2	249	1	0	0	0	0	1	0	0	0	697	1174	41	5	741	5	ANO2	12	5687643	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		5687643	128164252	50	17730											
MLL2	8085	broad.mit.edu	37	chr12	49432573	49432573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagacgggtggaaattcCcgccaacggggaacctaggg	10	5	16	10	3	0	1	0	0	0	1	1	3	1	3	3	6	2	1	3	6	4	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:49432573C>G	ENST00000301067.7	-	34	8565	c.8566G>C	c.(8566-8568)Gga>Cga	p.G2856R	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2856					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGAAATTCCCGCCAACGGG	0.597																																						uc001rta.4										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(8566-8568)Gga>Cga		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							21	22	22					12																	49432573		1960	4136	6096	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49432573C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8566G>C	12.37:g.49432573C>G	ENSP00000301067:p.Gly2856Arg	HNSCC(34;0.089)					p.G2856R	NM_003482	NP_003473	O14686	MLL2_HUMAN			33	8566	-			2856					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8566G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125150	0.06795	.	.	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	5.57	5.57	0.84162	.	0.000000	0.35838	N	0.002960	T	0.80763	0.4685	N	0.22421	0.69	0.29404	N	0.861703	D	0.64830	0.994	P	0.58577	0.841	T	0.78360	-0.2234	10	0.87932	D	0	.	14.9472	0.71042	0.0:0.8563:0.1437:0.0	.	2856	O14686	MLL2_HUMAN	R	2856	ENSP00000301067:G2856R	ENSP00000301067:G2856R	G	-	1	0	MLL2	47718840	0.020000	0.18652	0.965000	0.40720	0.151000	0.21798	1.089000	0.30890	2.798000	0.96311	0.650000	0.86243	GGA		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49432573	C	G	49432573	3	3	249	1	0	0	0	0	1	0	0	0	9621	632	22	5	8131	5	MLL2	12	49432573	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	43744930	49432573	84419322	51	17731											
CALCOCO1	57658	broad.mit.edu	37	chr12	54105903	54105903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagggtacccactgtaaagCcactaagagagacagagggg	15	4	13	9	0	0	3	0	0	0	3	0	4	0	3	2	3	2	2	2	3	4	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:54105903C>G	ENST00000550804.1	-	15	1961	c.1901G>C	c.(1900-1902)gGc>gCc	p.G634A	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.G633A|CALCOCO1_ENST00000548263.1_3'UTR|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.G549A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	634	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGTAAAGCCACTAAGAGA	0.577																																						uc001sef.3																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1900-1902)gGc>gCc		Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.							46	41	42					12																	54105903		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54105903C>G	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1901G>C	12.37:g.54105903C>G	ENSP00000449960:p.Gly634Ala					CALCOCO1_uc001see.3_Missense_Mutation_p.G159A|CALCOCO1_uc010som.2_Missense_Mutation_p.G549A|CALCOCO1_uc010son.2_Missense_Mutation_p.G511A|CALCOCO1_uc009znd.3_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.3_Missense_Mutation_p.G459A|CALCOCO1_uc001seh.2_3'UTR	p.G634A	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			14	2045	-			634			C-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1901G>C	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	c	12.17	1.856751	0.32791	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000550804	T;T;T	0.35789	1.29;2.89;2.78	3.56	2.65	0.31530	.	0.224350	0.22912	N	0.054133	T	0.14056	0.0340	N	0.03608	-0.345	0.29886	N	0.825606	B;B;B;B;B	0.15141	0.003;0.012;0.003;0.007;0.007	B;B;B;B;B	0.21708	0.011;0.036;0.011;0.016;0.008	T	0.26985	-1.0087	10	0.02654	T	1	-11.5382	11.0477	0.47867	0.0:0.8111:0.1889:0.0	.	549;633;549;634;335	E9PAU0;Q9P1Z2-3;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;CACO1_HUMAN;.	A	335;549;633;572;634	ENSP00000397189:G549A;ENSP00000262059:G633A;ENSP00000449960:G634A	ENSP00000262059:G633A	G	-	2	0	CALCOCO1	52392170	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.132000	0.42083	1.062000	0.40625	0.457000	0.33378	GGC		0.577	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		G	54105903	C	G	54105903	3	3	249	1	0	0	0	0	1	0	0	0	2577	739	26	5	178	5	CALCOCO1	12	54105903	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	4673330	54105903	79745992	52	17732											
SUOX	6821	broad.mit.edu	37	chr12	56398139	56398139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctttgagggactggaCtcagaccctactgggactgc	7	10	13	11	0	2	2	1	1	1	1	2	5	2	5	1	3	3	1	1	3	1	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:56398139C>G	ENST00000394109.3	+	3	1690	c.966C>G	c.(964-966)gaC>gaG	p.D322E	SUOX_ENST00000356124.4_Missense_Mutation_p.D322E|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000394115.2_Missense_Mutation_p.D322E|SUOX_ENST00000548274.1_Missense_Mutation_p.D322E|SUOX_ENST00000266971.3_Missense_Mutation_p.D322E			P51687	SUOX_HUMAN	sulfite oxidase	322	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGGACTGGACTCAGACCCTA	0.607																																						uc001six.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(964-966)gaC>gaG		Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							53	47	49					12																	56398139		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398139C>G	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.966C>G	12.37:g.56398139C>G	ENSP00000377668:p.Asp322Glu					SUOX_uc001siy.3_Missense_Mutation_p.D322E|SUOX_uc001siz.3_Missense_Mutation_p.D322E|SUOX_uc001sja.3_Missense_Mutation_p.D322E	p.D322E	NM_000456	NP_001027559	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		5	1292	+			322			Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.966C>G	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226770	0.58668	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8	5.11	0.103	0.14526	Oxidoreductase, molybdopterin-binding domain (3);	0.106852	0.64402	D	0.000012	D	0.95001	0.8382	M	0.65320	2	0.49483	D	0.999795	P	0.40250	0.709	P	0.51945	0.685	D	0.91184	0.4978	10	0.38643	T	0.18	-14.3826	8.9801	0.35959	0.0:0.5203:0.0:0.4797	.	322	P51687	SUOX_HUMAN	E	322	ENSP00000348440:D322E;ENSP00000266971:D322E;ENSP00000377674:D322E;ENSP00000450245:D322E;ENSP00000377668:D322E	ENSP00000266971:D322E	D	+	3	2	SUOX	54684406	0.661000	0.27430	0.995000	0.50966	0.987000	0.75469	0.032000	0.13732	-0.070000	0.12908	0.585000	0.79938	GAC		0.607	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		G	56398139	C	G	56398139	3	3	249	1	0	0	0	0	1	0	0	0	15392	564	20	5	976	5	SUOX	12	56398139	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	2292236	56398139	77453756	53	17733											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450952	85450952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgtggcccttgggataCtttacagcaggtatttctaa	9	14	10	8	1	1	0	0	0	1	0	2	2	1	1	1	3	3	2	1	3	4	7			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:85450952C>G	ENST00000393217.2	+	8	2442	c.2381C>G	c.(2380-2382)aCt>aGt	p.T794S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	794										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTGGGATACTTTACAGCAG	0.313																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2380-2382)aCt>aGt		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							74	83	80					12																	85450952		2202	4300	6502	SO:0001583	missense	84125							g.chr12:85450952C>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2381C>G	12.37:g.85450952C>G	ENSP00000376910:p.Thr794Ser					LRRIQ1_uc021rbo.1_Missense_Mutation_p.T672S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	p.T794S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	7	2492	+			794					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2381C>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	5.718	0.317004	0.10845	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.23552	1.9	5.56	2.68	0.31781	.	0.350509	0.26140	N	0.026116	T	0.10423	0.0255	N	0.13352	0.335	0.09310	N	0.999999	P;B	0.38788	0.647;0.264	B;B	0.27380	0.079;0.03	T	0.22103	-1.0226	10	0.24483	T	0.36	.	7.9987	0.30284	0.2852:0.6422:0.0:0.0727	.	794;769	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	794;769;794	ENSP00000376910:T794S	ENSP00000256007:T794S	T	+	2	0	LRRIQ1	83975083	0.362000	0.24980	0.400000	0.26346	0.860000	0.49131	2.316000	0.43761	0.269000	0.21961	0.591000	0.81541	ACT		0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		G	85450952	C	G	85450952	3	3	249	1	0	0	0	0	1	0	0	0	9029	565	20	5	2407	5	LRRIQ1	12	85450952	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	29052813	85450952	48400943	54	17734											
ISCU	23479	broad.mit.edu	37	chr12	108962628	108962628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggctgaagatgcaatcaAggccgccctggctgattaca	10	8	12	11	1	1	3	1	2	0	1	1	3	1	3	2	3	2	4	2	3	4	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:108962628A>G	ENST00000311893.9	+	5	462	c.440A>G	c.(439-441)aAg>aGg	p.K147R	ISCU_ENST00000338291.4_3'UTR|ISCU_ENST00000392807.4_Missense_Mutation_p.K122R|ISCU_ENST00000547005.1_3'UTR|ISCU_ENST00000431221.2_3'UTR|ISCU_ENST00000540154.1_3'UTR	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	147					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GATGCAATCAAGGCCGCCCTG	0.478																																						uc010sxc.2																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						c.(439-441)aAg>aGg		Homo sapiens iron-sulfur cluster scaffold homolog (E. coli) (ISCU), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							49	48	48					12																	108962628		2203	4300	6503	SO:0001583	missense	23479				iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	g.chr12:108962628A>G	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"NifU-like N-terminal domain containing", "IscU iron-sulfur cluster scaffold homolog (E. coli)", "iron-sulfur cluster scaffold homolog (E. coli)"	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.440A>G	12.37:g.108962628A>G	ENSP00000310623:p.Lys147Arg					ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.4_Missense_Mutation_p.K122R|ISCU_uc009zuy.3_3'UTR|ISCU_uc010sxd.2_3'UTR|ISCU_uc021rdk.1_5'Flank	p.K147R	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN			4	545	+			147					Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	c.440A>G	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212615	0.58452	.	.	ENSG00000136003	ENST00000311893;ENST00000392807	T;T	0.78481	-1.18;-1.12	5.53	5.53	0.82687	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.144523	0.64402	N	0.000009	T	0.69984	0.3172	L	0.39147	1.195	0.80722	D	1	B;B	0.16166	0.016;0.003	B;B	0.26416	0.069;0.02	T	0.67688	-0.5606	10	0.56958	D	0.05	.	9.2087	0.37304	0.9177:0.0:0.0823:0.0	.	147;122	Q9H1K1;Q9H1K1-2	ISCU_HUMAN;.	R	147;122	ENSP00000310623:K147R;ENSP00000376554:K122R	ENSP00000310623:K147R	K	+	2	0	ISCU	107486757	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.939000	0.56591	2.103000	0.63969	0.533000	0.62120	AAG		0.478	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		G	108962628	A	G	108962628	3	3	249	1	0	0	0	0	1	0	0	0	7852	72	3	4	383	4	ISCU	12	108962628	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	23511676	108962628	24889267	55	17735											
HNF1A	6927	broad.mit.edu	37	chr12	121426701	121426701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacaacatcccacagcGggaggtggtcgataccactg	11	5	12	13	2	0	0	0	0	0	0	2	2	1	1	2	3	4	2	2	3	2	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:121426701G>T	ENST00000257555.6	+	2	618	c.392G>T	c.(391-393)cGg>cTg	p.R131L	HNF1A_ENST00000543427.1_Missense_Mutation_p.R14L|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Missense_Mutation_p.R131L|HNF1A_ENST00000544413.1_Missense_Mutation_p.R131L|HNF1A_ENST00000400024.2_Missense_Mutation_p.R131L|HNF1A_ENST00000541395.1_Missense_Mutation_p.R131L			P20823	HNF1A_HUMAN	HNF1 homeobox A	131	Interaction with DNA.		R -> Q (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:9032114, ECO:0000269|PubMed:9287053}.|R -> W (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:9075818, ECO:0000269|PubMed:9166684}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCCCACAGCGGGAGGTGGTC	0.622									Hepatic Adenoma, Familial Clustering of																													uc001tzg.3																			0		p.R131W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM961361	HNF1A	M		c.(391-393)cGg>cTg		Homo sapiens HNF1 homeobox A (HNF1A), mRNA.							158	120	133					12																	121426701		2203	4300	6503	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121426701G>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.392G>T	12.37:g.121426701G>T	ENSP00000257555:p.Arg131Leu					HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.R131L|HNF1A_uc001tzf.3_Missense_Mutation_p.R131L|HNF1A_uc010szn.2_Missense_Mutation_p.R131L|HNF1A_uc021rfa.1_Missense_Mutation_p.R131L|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	p.R131L	NM_000545	NP_000536	P20823	HNF1A_HUMAN			1	415	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		131		R -> Q (in MODY3; expected to interfere with DNA binding).|R -> W (in MODY3; expected to interfere with DNA binding).	Interaction with DNA.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.392G>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203934	0.95033	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	5.08	5.08	0.68730	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.64402	D	0.000006	D	0.99453	0.9806	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.98732	1.0713	10	0.87932	D	0	-41.949	17.4481	0.87584	0.0:0.0:1.0:0.0	.	131;131;131;131	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	L	131;131;131;131;131;131;14;131;131;131;131;131	ENSP00000257555:R131L;ENSP00000439721:R14L;ENSP00000443112:R131L;ENSP00000438804:R131L	ENSP00000257555:R131L	R	+	2	0	HNF1A	119911084	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.398000	0.97281	2.348000	0.79779	0.530000	0.56133	CGG		0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		T	121426701	G	T	121426701	3	4	249	1	0	0	0	0	1	0	0	0	7251	1116	39	5	398	5	HNF1A	12	121426701	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12464073	121426701	12425194	56	17736											
GOLGA3	2802	broad.mit.edu	37	chr12	133383767	133383767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaacgtccgttacctgaCtcgcctccagtgacaaggct	8	9	10	14	4	0	2	0	2	0	0	4	3	2	2	4	1	2	2	4	1	3	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:133383767C>T	ENST00000450791.2	-	5	1469	c.1286G>A	c.(1285-1287)aGt>aAt	p.S429N	GOLGA3_ENST00000204726.3_Missense_Mutation_p.S429N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S429N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S429N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S429N			Q08378	GOGA3_HUMAN	golgin A3	429					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTTACCTGACTCGCCTCCAG	0.547																																						uc001ukz.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1285-1287)aGt>aAt		Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.							80	50	60					12																	133383767		2202	4300	6502	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133383767C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1286G>A	12.37:g.133383767C>T	ENSP00000410378:p.Ser429Asn					GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S429N|GOLGA3_uc001ulb.3_Missense_Mutation_p.S429N	p.S429N	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1845	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	429					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1286G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607955	0.28623	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.33	3.36	0.38483	.	0.208186	0.56097	D	0.000023	T	0.57110	0.2031	N	0.12182	0.205	0.80722	D	1	B;B;B	0.18863	0.021;0.011;0.031	B;B;B	0.18263	0.021;0.015;0.019	T	0.51244	-0.8730	10	0.34782	T	0.22	.	7.2089	0.25923	0.0:0.5673:0.3249:0.1078	.	429;429;429	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	N	429	ENSP00000204726:S429N;ENSP00000410378:S429N;ENSP00000409303:S429N;ENSP00000442143:S429N;ENSP00000442603:S429N	ENSP00000204726:S429N	S	-	2	0	GOLGA3	131893840	0.995000	0.38212	0.994000	0.49952	0.861000	0.49209	0.328000	0.19681	1.225000	0.43566	0.561000	0.74099	AGT		0.547	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		T	133383767	C	T	133383767	3	4	249	1	0	0	0	0	1	0	0	0	6554	565	20	3	3424	3	GOLGA3	12	133383767	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	11957066	133383767	468128	57	17737											
GSX1	219409	broad.mit.edu	37	chr13	28367747	28367747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagcaagaggatgcgcacgGctttcaccagcacgcagctg	10	5	13	13	3	1	1	1	0	0	1	1	2	1	2	1	2	4	7	1	2	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:28367747G>A	ENST00000302945.2	+	2	505	c.457G>A	c.(457-459)Gct>Act	p.A153T		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	153					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GATGCGCACGGCTTTCACCAG	0.577																																						uc001urr.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(457-459)Gct>Act		Homo sapiens GS homeobox 1 (GSX1), mRNA.							76	71	73					13																	28367747		2203	4300	6503	SO:0001583	missense	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367747G>A	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.457G>A	13.37:g.28367747G>A	ENSP00000304331:p.Ala153Thr						p.A153T	NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	1	505	+		Lung SC(185;0.0161)	153					Q9UD62	Missense_Mutation	SNP	ENST00000302945.2	37	c.457G>A	CCDS9326.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722493	0.89298	.	.	ENSG00000169840	ENST00000302945	D	0.95885	-3.84	4.86	4.86	0.63082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	N	0.20304	0.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95131	0.8255	10	0.34782	T	0.22	.	17.5873	0.87986	0.0:0.0:1.0:0.0	.	153	Q9H4S2	GSX1_HUMAN	T	153	ENSP00000304331:A153T	ENSP00000304331:A153T	A	+	1	0	GSX1	27265747	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.965000	0.87945	2.250000	0.74265	0.561000	0.74099	GCT		0.577	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		A	28367747	G	A	28367747	3	1	249	1	0	0	0	0	1	0	0	0	6849	1203	42	3	463	3	GSX1	13	28367747	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		28367747	86802131	58	17738											
NBEA	26960	broad.mit.edu	37	chr13	35883701	35883701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaagaatgcaggacttGcatttattgagctcatcaat	13	13	8	7	0	3	3	3	1	0	2	3	4	3	4	0	1	3	3	0	1	4	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:35883701G>C	ENST00000400445.3	+	36	6409	c.5875G>C	c.(5875-5877)Gca>Cca	p.A1959P	NBEA_ENST00000540320.1_Missense_Mutation_p.A1959P|NBEA_ENST00000310336.4_Missense_Mutation_p.A1959P|NBEA_ENST00000379939.2_Missense_Mutation_p.A1956P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1959					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCAGGACTTGCATTTATTGA	0.343																																						uc021rid.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5875-5877)Gca>Cca		Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.							74	68	70					13																	35883701		1877	4126	6003	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35883701G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5875G>C	13.37:g.35883701G>C	ENSP00000383295:p.Ala1959Pro					NBEA_uc021ric.1_Missense_Mutation_p.A1956P|NBEA_uc010abi.3_Missense_Mutation_p.A615P	p.A1959P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	35	6409	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1959					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5875G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988237	0.93106	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.58940	0.3;0.3;0.31;0.3	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79614	-0.1730	10	0.72032	D	0.01	.	19.0295	0.92950	0.0:0.0:1.0:0.0	.	1959;1956	Q8NFP9;Q5T321	NBEA_HUMAN;.	P	1959;1959;1956;1959;586	ENSP00000440951:A1959P;ENSP00000383295:A1959P;ENSP00000369271:A1956P;ENSP00000308534:A1959P	ENSP00000308534:A1959P	A	+	1	0	NBEA	34781701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.507000	0.84556	0.655000	0.94253	GCA		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	35883701	G	C	35883701	3	2	249	1	0	0	0	0	1	0	0	0	10187	1319	46	5	6017	5	NBEA	13	35883701	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	7515954	35883701	79286177	59	17739											
RNF31	55072	broad.mit.edu	37	chr14	24620756	24620756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccaggcattgttccaGcacggaggtgatgtgtcacg	7	11	12	11	2	2	1	1	1	1	0	5	2	4	2	2	3	1	3	2	3	0	2	rs370616415		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:24620756G>C	ENST00000324103.6	+	10	2120	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.Q75H|RNF31_ENST00000382687.3_Missense_Mutation_p.Q449H|RNF31_ENST00000559275.1_Missense_Mutation_p.Q449H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	600	Interaction with RBCK1.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CATTGTTCCAGCACGGAGGTG	0.627																																						uc001wmn.1																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1798-1800)caG>caC		Homo sapiens ring finger protein 31 (RNF31), mRNA.							60	63	62					14																	24620756		2028	4184	6212	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24620756G>C	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1800G>C	14.37:g.24620756G>C	ENSP00000315112:p.Gln600His					RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.3_Non-coding_Transcript	p.Q600H	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	9	2049	+			600			Interaction with RBCK1.|UBA.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1800G>C	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430373	0.43122	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.43688	0.94;0.94	5.42	0.126	0.14722	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.245666	0.34200	N	0.004168	T	0.36963	0.0986	N	0.24115	0.695	0.33409	D	0.578357	P;D;D	0.59767	0.892;0.976;0.986	P;P;P	0.54100	0.547;0.459;0.742	T	0.51188	-0.8737	10	0.66056	D	0.02	-5.9584	9.9088	0.41392	0.4359:0.0:0.5641:0.0	.	359;600;449	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	H	600;449	ENSP00000315112:Q600H;ENSP00000372134:Q449H	ENSP00000315112:Q600H	Q	+	3	2	RNF31	23690596	0.998000	0.40836	0.995000	0.50966	0.937000	0.57800	0.276000	0.18716	-0.170000	0.10816	-0.812000	0.03155	CAG		0.627	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		C	24620756	G	C	24620756	3	2	249	1	0	0	0	0	1	0	0	0	13487	962	34	5	1838	5	RNF31	14	24620756	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		24620756	82728784	60	17740											
GPR65	8477	broad.mit.edu	37	chr14	88477519	88477519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcctcacctgcattgccGttgatcggtatttggctgtt	5	16	9	11	2	1	1	1	1	0	0	3	1	2	1	3	2	2	5	3	2	1	6	rs548128364		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:88477519G>A	ENST00000267549.3	+	2	886	c.328G>A	c.(328-330)Gtt>Att	p.V110I	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	110					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTGCCGTTGATCGGTA	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		22403	0		0	False		,,,				2504	0					uc021rxh.1																			0		p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(328-330)Gtt>Att		Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.							213	203	206					14																	88477519		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477519G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.328G>A	14.37:g.88477519G>A	ENSP00000267549:p.Val110Ile					GPR65_uc001xvv.3_Missense_Mutation_p.V110I	p.V110I	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			0	328	+			110					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.328G>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809465	0.00606	.	.	ENSG00000140030	ENST00000267549	T	0.38401	1.14	5.82	-11.6	0.00059	GPCR, rhodopsin-like superfamily (1);	1.434260	0.04843	N	0.440940	T	0.16727	0.0402	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.08229	-1.0732	10	0.08179	T	0.78	.	3.9515	0.09371	0.3172:0.3469:0.2257:0.1102	.	110	Q8IYL9	PSYR_HUMAN	I	110	ENSP00000267549:V110I	ENSP00000267549:V110I	V	+	1	0	GPR65	87547272	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.842000	0.01681	-2.517000	0.00500	-2.212000	0.00299	GTT		0.433	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			A	88477519	G	A	88477519	3	1	249	1	0	0	0	0	1	0	0	0	6706	1145	40	1	330	1	GPR65	14	88477519	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	63856763	88477519	18872021	61	17741											
AHNAK2	113146	broad.mit.edu	37	chr14	105405535	105405535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagggctgtatcaatattgGcctctggacactgcacttcc	10	11	9	11	0	2	0	1	0	1	0	3	1	3	1	2	3	1	3	2	3	4	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:105405535G>A	ENST00000333244.5	-	7	16372	c.16253C>T	c.(16252-16254)gCc>gTc	p.A5418V	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A416V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5418						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCAATATTGGCCTCTGGACA	0.557																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(16252-16254)gCc>gTc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							47	46	47					14																	105405535		1889	4125	6014	SO:0001583	missense	113146					nucleus		g.chr14:105405535G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16253C>T	14.37:g.105405535G>A	ENSP00000353114:p.Ala5418Val					AHNAK2_uc021sen.1_Missense_Mutation_p.A815V|AHNAK2_uc021seo.1_Missense_Mutation_p.A416V|AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	p.A5418V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	16373	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5418					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16253C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836071	0.50951	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.04317	3.65;5.42	5.31	1.26	0.21427	.	0.745820	0.11075	U	0.602480	T	0.04588	0.0125	L	0.34521	1.04	0.09310	N	1	B	0.29432	0.244	B	0.32928	0.155	T	0.47381	-0.9122	10	0.24483	T	0.36	.	7.9407	0.29957	0.0:0.3777:0.3771:0.2452	.	5418	Q8IVF2	AHNK2_HUMAN	V	416;5418	ENSP00000450998:A416V;ENSP00000353114:A5418V	ENSP00000353114:A5418V	A	-	2	0	AHNAK2	104476580	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.545000	0.23268	0.034000	0.15491	0.491000	0.48974	GCC		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105405535	G	A	105405535	3	1	249	1	0	0	0	0	1	0	0	0	415	1203	42	3	1138	3	AHNAK2	14	105405535	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	16928016	105405535	1944005	62	17742											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284790	49284790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttcttcttcaagcatgCcaggtacaagagtgctggtg	8	13	10	10	0	4	1	1	0	3	1	4	1	4	1	1	2	4	3	1	2	3	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:49284790C>T	ENST00000559471.1	-	18	3220	c.2957G>A	c.(2956-2958)gGc>gAc	p.G986D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G941D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	986							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ttcAAGCATGCCAGGTACAAG	0.468																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2956-2958)gGc>gAc		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							83	79	80					15																	49284790		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284790C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2957G>A	15.37:g.49284790C>T	ENSP00000453854:p.Gly986Asp					SECISBP2L_uc001zxd.2_Missense_Mutation_p.G941D	p.G986D	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN			17	3221	-			986					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2957G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182895	0.78677	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.73575	-0.76	5.19	5.19	0.71726	.	0.057087	0.64402	D	0.000001	T	0.74160	0.3680	L	0.27053	0.805	0.46981	D	0.999274	D;D	0.69078	0.994;0.997	P;P	0.60682	0.759;0.878	T	0.72593	-0.4246	10	0.37606	T	0.19	.	12.2494	0.54589	0.0:0.9229:0.0:0.0771	.	986;941	Q93073;Q93073-2	SBP2L_HUMAN;.	D	941;986	ENSP00000261847:G941D	ENSP00000261847:G941D	G	-	2	0	SECISBP2L	47072082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.702000	0.92279	0.655000	0.94253	GGC		0.468	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		T	49284790	C	T	49284790	3	4	249	1	0	0	0	0	1	0	0	0	14007	739	26	3	352	3	SECISBP2L	15	49284790	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		49284790	53246602	63	17743											
SLC27A2	11001	broad.mit.edu	37	chr15	50497504	50497504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgcagaaaatacaacGtcactgtcattcagtatatc	15	11	6	9	1	3	2	3	1	0	1	4	2	3	2	0	0	3	2	0	0	6	4	rs141444028		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:50497504G>A	ENST00000267842.5	+	4	1148	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	SLC27A2_ENST00000380902.4_Missense_Mutation_p.V253I|SLC27A2_ENST00000544960.1_Missense_Mutation_p.V71I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAATACAACGTCACTGTCAT	0.428													G|||	1	0.000199681	0	0.0014	5008	,	,		15671	0		0	False		,,,				2504	0					uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(916-918)Gtc>Atc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL	1,4391	2.1+/-5.4	0,1,2195	148	126	133		757,916	2.4	0	15	dbSNP_134	133	0,8590		0,0,4295	no	missense,missense	SLC27A2	NM_001159629.1,NM_003645.3	29,29	0,1,6490	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	253/568,306/621	50497504	1,12981	2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497504G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.916G>A	15.37:g.50497504G>A	ENSP00000267842:p.Val306Ile					SLC27A2_uc010bes.3_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V71I	p.V306I	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	3	1148	+		all_lung(180;0.00177)	306					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.916G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789726	0.50102	2.28E-4	0.0	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52983	0.64;0.94;0.94	5.28	2.42	0.29668	AMP-dependent synthetase/ligase (1);	0.324671	0.32273	N	0.006330	T	0.42944	0.1225	L	0.59912	1.85	0.34860	D	0.742483	B;P	0.34522	0.286;0.455	B;B	0.37888	0.226;0.26	T	0.50398	-0.8833	10	0.34782	T	0.22	.	8.9307	0.35668	0.2433:0.0:0.7567:0.0	.	253;306	Q6PF09;O14975	.;S27A2_HUMAN	I	253;306;71	ENSP00000370289:V253I;ENSP00000267842:V306I;ENSP00000444549:V71I	ENSP00000267842:V306I	V	+	1	0	SLC27A2	48284796	1.000000	0.71417	0.046000	0.18839	0.903000	0.53119	4.977000	0.63792	0.394000	0.25230	0.563000	0.77884	GTC		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		A	50497504	G	A	50497504	3	1	249	1	0	0	0	0	1	0	0	0	14526	1145	40	1	930	1	SLC27A2	15	50497504	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	1212714	50497504	52033888	64	17744											
C15orf39	56905	broad.mit.edu	37	chr15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagctgcggcccaccaCgctgtcggaggagcgggcac	6	5	17	13	4	0	0	0	0	0	0	1	3	0	3	2	5	3	3	2	5	0	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:75501019C>T	ENST00000360639.2	+	2	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M|C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	877						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667																																						uc002azp.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2629-2631)aCg>aTg		Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.							23	18	20					15																	75501019		2194	4292	6486	SO:0001583	missense	56905							g.chr15:75501019C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2630C>T	15.37:g.75501019C>T	ENSP00000353854:p.Thr877Met					C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M	p.T877M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			1	2950	+			877					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2630C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298753	0.81025	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38401	1.14;1.14	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61657	-0.7018	10	0.87932	D	0	-17.2293	17.8467	0.88732	0.0:1.0:0.0:0.0	.	439;877	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	M	877;877;275	ENSP00000353854:T877M;ENSP00000378438:T877M	ENSP00000353854:T877M	T	+	2	0	C15orf39	73288072	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	7.382000	0.79729	2.556000	0.86216	0.561000	0.74099	ACG		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		T	75501019	C	T	75501019	3	4	249	1	0	0	0	0	1	0	0	0	1793	536	19	1	2632	1	C15orf39	15	75501019	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	25003515	75501019	27030373	65	17745											
C15orf27	123591	broad.mit.edu	37	chr15	76484332	76484332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatccggcagctgcgcgcGcacctggcgcagcaggacct	7	4	15	15	5	0	1	0	0	0	1	1	3	1	2	3	3	3	5	3	3	0	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:76484332G>A	ENST00000388942.3	+	9	1068	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	264					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCTGCGCGCGCACCTGGCGC	0.716																																						uc002bbq.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(790-792)gcG>gcA		Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.							8	11	10					15																	76484332		2054	4047	6101	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76484332G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.792G>A	15.37:g.76484332G>A						C15orf27_uc010bkp.3_Silent_p.A80A|C15orf27_uc002bbr.3_Silent_p.A80A|C15orf27_uc002bbs.3_5'UTR	p.A264A	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			8	947	+			264					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.792G>A	CCDS10289.2																																																																																				0.716	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		A	76484332	G	A	76484332	2	1	249	1	0	0	0	0	0	0	0	1	1788	1074	38	1		1	C15orf27	15	76484332	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	983313	76484332	26047060	66	17746											
ZNF668	79759	broad.mit.edu	37	chr16	31072650	31072650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgggtgtgagcgctcgtgCcgacgcagcagcgtcattgt	5	9	15	12	6	1	1	1	1	0	0	3	2	2	1	2	1	4	3	2	1	0	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:31072650C>T	ENST00000538906.1	-	3	2383	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	ZNF668_ENST00000300849.4_Silent_p.R533R|ZNF668_ENST00000535577.1_Silent_p.R533R|ZNF668_ENST00000426488.2_Silent_p.R556R|ZNF668_ENST00000539836.3_Silent_p.R556R|ZNF668_ENST00000394983.2_Silent_p.R533R|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCGCTCGTGCCGACGCAGCA	0.672																																					Colon(181;1111 1980 5060 10512 25785)	uc021tgt.1																			0		p.R556R(1)|p.R556Q(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1666-1668)cgG>cgA		Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.							41	42	42					16																	31072650		2197	4300	6497	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072650C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1599G>A	16.37:g.31072650C>T						ZNF668_uc010cag.2_Silent_p.R533R|ZNF668_uc010caf.3_Silent_p.R533R|ZNF668_uc002eao.3_Silent_p.R533R	p.R556R	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN			3	2024	-			533		R -> Q (in a breast cancer sample; somatic mutation).			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1668G>A	CCDS10701.1																																																																																				0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		T	31072650	C	T	31072650	2	4	249	1	0	0	0	0	0	0	0	1	18072	726	26	3		3	ZNF668	16	31072650	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		31072650	59282103	67	17747											
CPNE7	27132	broad.mit.edu	37	chr16	89655119	89655119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccaatggagacccgCggaacagctgctccctgcac	8	5	10	18	3	0	1	0	0	0	1	2	3	2	2	5	2	4	3	5	2	2	0	rs145109453		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:89655119C>T	ENST00000268720.5	+	12	1319	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CPNE7_ENST00000319518.8_Missense_Mutation_p.R322W	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	397	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGAGACCCGCGGAACAGCTG	0.647													C|||	1	0.000199681	0	0.0014	5008	,	,		15494	0		0	False		,,,				2504	0					uc002fnp.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(1189-1191)Cgg>Tgg		Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.		C	TRP/ARG,TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	119	91	101		1189,964	1.6	0.7	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	101,101	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	397/634,322/559	89655119	2,12994	2198	4300	6498	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89655119C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1189C>T	16.37:g.89655119C>T	ENSP00000268720:p.Arg397Trp					CPNE7_uc002fnq.3_Missense_Mutation_p.R322W	p.R397W	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	11	1319	+		all_hematologic(23;0.0748)	397		R -> Q (in dbSNP:rs28568523).	VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1189C>T	CCDS10980.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.19	2.164507	0.38217	2.27E-4	1.16E-4	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.19532	2.37;2.33;2.14	3.75	1.58	0.23477	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.85197	2.74	0.46298	D	0.998979	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.973	T	0.48681	-0.9014	10	0.87932	D	0	-8.211	11.2662	0.49112	0.3438:0.6562:0.0:0.0	.	322;397	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	W	322;397;42	ENSP00000317374:R322W;ENSP00000268720:R397W;ENSP00000435876:R42W	ENSP00000268720:R397W	R	+	1	2	CPNE7	88182620	0.124000	0.22315	0.689000	0.30133	0.159000	0.22180	0.661000	0.25023	0.120000	0.18254	0.313000	0.20887	CGG		0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			T	89655119	C	T	89655119	3	4	249	1	0	0	0	0	1	0	0	0	3817	759	27	1	1235	1	CPNE7	16	89655119	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	58582469	89655119	699634	68	17748											
NF1	4763	broad.mit.edu	37	chr17	29508778	29508778	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgaatttacaaaactgtaCcagatcccacagactgatat	16	10	6	9	0	0	4	0	2	0	2	1	5	1	4	2	0	3	1	2	0	6	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:29508778C>G	ENST00000358273.4	+	7	1088	c.705C>G	c.(703-705)taC>taG	p.Y235*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Y235*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y235*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	235					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGTACCAGATCCCAC	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM086301	NF1	M		c.(703-705)taC>taG		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							70	72	71					17																	29508778		2203	4296	6499	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508778C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.705C>G	17.37:g.29508778C>G	ENSP00000351015:p.Tyr235*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.3_Nonsense_Mutation_p.Y235*|NF1_uc010csn.2_Nonsense_Mutation_p.Y95*	p.Y235*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	6	1088	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	235					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.705C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	37	6.485732	0.97607	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5069	0.67758	0.0:0.9283:0.0:0.0717	.	.	.	.	X	235	.	ENSP00000348498:Y235X	Y	+	3	2	NF1	26532904	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.491000	0.35583	2.793000	0.96121	0.655000	0.94253	TAC		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29508778	C	G	29508778	4	3	249	1	0	0	0	0	0	1	0	0	10356	518	18	5	731	5	NF1	17	29508778	Nonsense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		29508778	51686432	69	17749											
SLC4A1	6521	broad.mit.edu	37	chr17	42330723	42330723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgaccatcttgcgctcagGtttgctgacaatcagcctac	8	12	8	13	1	3	2	2	2	1	0	3	2	3	2	2	1	4	3	2	1	2	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:42330723G>C	ENST00000262418.6	-	17	2229	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	692	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCGCTCAGGTTTGCTGACA	0.612																																						uc002igf.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(2074-2076)Cct>Gct		Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.							86	82	83					17																	42330723		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42330723G>C		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2074C>G	17.37:g.42330723G>C	ENSP00000262418:p.Pro692Ala					SLC4A1_uc021tyc.1_Missense_Mutation_p.P326A	p.P692A	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	16	2223	-		Breast(137;0.014)|Prostate(33;0.0181)	692			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2074C>G	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828400	0.71143	.	.	ENSG00000004939	ENST00000262418	T	0.78481	-1.18	4.91	4.91	0.64330	Bicarbonate transporter, C-terminal (1);	0.121580	0.56097	D	0.000027	D	0.86628	0.5978	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.61070	0.883	D	0.88326	0.2965	10	0.66056	D	0.02	.	17.8012	0.88587	0.0:0.0:1.0:0.0	.	692	P02730	B3AT_HUMAN	A	692	ENSP00000262418:P692A	ENSP00000262418:P692A	P	-	1	0	SLC4A1	39686249	1.000000	0.71417	0.994000	0.49952	0.846000	0.48090	3.871000	0.56077	2.304000	0.77564	0.555000	0.69702	CCT		0.612	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		C	42330723	G	C	42330723	3	2	249	1	0	0	0	0	1	0	0	0	14650	1261	44	5	677	5	SLC4A1	17	42330723	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12821945	42330723	38864487	70	17750											
RNF213	57674	broad.mit.edu	37	chr17	78282912	78282912	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctacttaagttttacGagctgccagccttatctgcc	10	12	7	12	1	1	0	0	0	1	0	1	1	1	0	3	0	7	3	3	0	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:78282912G>T	ENST00000582970.1	+	14	2739	c.2596G>T	c.(2596-2598)Gag>Tag	p.E866*	RNF213_ENST00000456466.1_Nonsense_Mutation_p.E866*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.E866*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.E915*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	866					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGTTTTACGAGCTGCCAGC	0.502																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2743-2745)Gag>Tag		SubName: Full=Uncharacterized protein;							150	139	142					17																	78282912		2203	4300	6503	SO:0001587	stop_gained	57674							g.chr17:78282912G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2596G>T	17.37:g.78282912G>T	ENSP00000464087:p.Glu866*					RNF213_uc002jyf.3_Nonsense_Mutation_p.E866*|RNF213_uc021uen.1_Nonsense_Mutation_p.E866*|RNF213_uc002jyg.1_Nonsense_Mutation_p.E597*	p.E915*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		14	2886	+	all_neural(118;0.0538)		866					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.2743G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	39	7.778516	0.98483	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	5.38	4.4	0.53042	.	0.411423	0.22600	N	0.057973	.	.	.	.	.	.	0.24859	N	0.992351	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-32.5994	12.6164	0.56580	0.0:0.1661:0.8339:0.0	.	.	.	.	X	866;915;866;866	.	ENSP00000324392:E866X	E	+	1	0	RNF213	75897507	0.015000	0.18098	0.015000	0.15790	0.002000	0.02628	1.186000	0.32078	1.369000	0.46134	0.655000	0.94253	GAG		0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78282912	G	T	78282912	4	4	249	1	0	0	0	0	0	1	0	0	13477	1059	37	5	2797	5	RNF213	17	78282912	Nonsense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	35952189	78282912	2912298	71	17751											
CNDP2	55748	broad.mit.edu	37	chr18	72167228	72167228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggccctcactacccTgtttaagtacatagatgaaa	12	10	9	10	1	1	2	1	1	0	1	1	3	1	2	2	2	2	2	2	2	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr18:72167228T>C	ENST00000324262.4	+	2	336	c.20T>C	c.(19-21)cTg>cCg	p.L7P	CNDP2_ENST00000324301.8_Missense_Mutation_p.L7P|CNDP2_ENST00000579847.1_Missense_Mutation_p.L7P	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	7					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTCACTACCCTGTTTAAGTAC	0.458																																						uc002llm.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(19-21)cTg>cCg		Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.							107	94	98					18																	72167228		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72167228T>C	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.20T>C	18.37:g.72167228T>C	ENSP00000325548:p.Leu7Pro					CNDP2_uc021ulm.1_Non-coding_Transcript|CNDP2_uc002lln.2_Missense_Mutation_p.L7P	p.L7P	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	1	279	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	7					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.20T>C	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559660	0.27827	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09817	2.94;2.94	5.43	5.43	0.79202	.	0.069749	0.64402	D	0.000015	T	0.37376	0.1001	M	0.88842	2.985	0.47276	D	0.999375	P;D;P	0.61080	0.883;0.989;0.883	P;D;P	0.63033	0.806;0.91;0.738	T	0.41360	-0.9513	10	0.62326	D	0.03	0.32	15.1583	0.72761	0.0:0.0:0.0:1.0	.	7;7;7	B4DV28;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	P	7	ENSP00000325548:L7P;ENSP00000325756:L7P	ENSP00000325548:L7P	L	+	2	0	CNDP2	70318208	0.966000	0.33281	0.984000	0.44739	0.423000	0.31445	6.268000	0.72552	2.059000	0.61396	0.459000	0.35465	CTG		0.458	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		C	72167228	T	C	72167228	3	2	249	1	0	0	0	0	1	0	0	0	3594	1580	55	4	22	4	CNDP2	18	72167228	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08		72167228	5910020	72	17752											
ITPKC	80271	broad.mit.edu	37	chr19	41245286	41245286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcagctccctcctcttcGtgcacgaccacaccggcctg	6	8	9	18	3	1	0	0	0	1	0	4	1	3	0	5	2	2	3	5	2	1	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:41245286G>C	ENST00000263370.2	+	7	1906	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	C19orf54_ENST00000594163.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	625					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCCTCTTCGTGCACGACCA	0.652																																						uc002oot.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1873-1875)Gtg>Ctg		Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.							50	40	43					19																	41245286		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41245286G>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1873G>C	19.37:g.41245286G>C	ENSP00000263370:p.Val625Leu						p.V625L	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1906	+			625					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1873G>C	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826328	0.71143	.	.	ENSG00000086544	ENST00000263370	T	0.18810	2.19	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.77820	2.39	0.80722	D	1	P	0.44521	0.837	P	0.51742	0.678	T	0.19910	-1.0291	10	0.48119	T	0.1	-23.8873	17.6734	0.88224	0.0:0.0:1.0:0.0	.	625	Q96DU7	IP3KC_HUMAN	L	625	ENSP00000263370:V625L	ENSP00000263370:V625L	V	+	1	0	ITPKC	45937126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.471000	0.60182	2.779000	0.95612	0.655000	0.94253	GTG		0.652	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		C	41245286	G	C	41245286	3	2	249	1	0	0	0	0	1	0	0	0	7919	1145	40	5	1899	5	ITPKC	19	41245286	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		41245286	17883697	73	17753											
SIGLEC5	8778	broad.mit.edu	37	chr19	52132644	52132644	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagttctctccgtggTcacctgagctccttggcgtt	4	13	11	13	2	2	1	1	1	1	0	5	2	4	2	3	3	1	3	3	3	0	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:52132644T>A	ENST00000534261.2	-	4	1066	c.667A>T	c.(667-669)Acc>Tcc	p.T223S	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T223S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T223S|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T223S|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T223S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	223	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCTCCGTGGTCACCTGAGCT	0.622																																						uc002pxe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(667-669)Acc>Tcc		Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.							114	103	107					19																	52132644		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132644T>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.667A>T	19.37:g.52132644T>A	ENSP00000473238:p.Thr223Ser						p.T223S	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	2	806	-		all_neural(266;0.0726)	223			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000534261.2	37	c.667A>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	8.503	0.864713	0.17250	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.03124	4.04;4.04	3.69	1.47	0.22746	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.969423	0.08457	N	0.943000	T	0.02929	0.0087	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.50030	-0.8875	10	0.07990	T	0.79	.	3.7795	0.08674	0.0:0.1217:0.221:0.6573	.	223	O15389	SIGL5_HUMAN	S	223	ENSP00000222107:T223S;ENSP00000415200:T223S	ENSP00000222107:T223S	T	-	1	0	SIGLEC5	56824456	0.008000	0.16893	0.001000	0.08648	0.547000	0.35210	0.682000	0.25335	0.116000	0.18110	0.402000	0.26972	ACC		0.622	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52132644	T	A	52132644	3	1	249	1	0	0	0	0	1	0	0	0	14311	1667	58	5	1016	5	SIGLEC5	19	52132644	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	10887358	52132644	6996339	74	17754											
LILRA6	79168	broad.mit.edu	37	chr19	54744985	54744985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccctgcagggtcaggaggGagggcttcctagacacgcct	7	6	16	12	1	1	1	1	0	0	1	2	3	2	3	3	5	1	2	3	5	1	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:54744985G>T	ENST00000396365.2	-	5	716	c.677C>A	c.(676-678)tCc>tAc	p.S226Y	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S226Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.S226Y|LILRA6_ENST00000440558.2_Missense_Mutation_p.S226Y|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	226	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCAGGAGGGAGGGCTTCCT	0.632																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							20	24	23					19																	54744985		2197	4271	6468	SO:0001583	missense	79168				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54744985G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.677C>A	19.37:g.54744985G>T	ENSP00000379651:p.Ser226Tyr					LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.S226Y|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc010yep.1_Missense_Mutation_p.S226Y|LILRB3_uc010yeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.S226Y|LILRB3_uc002qev.1_Missense_Mutation_p.S87Y		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507142	0.44558	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.00864	5.6;5.6;5.6;5.6	2.42	2.42	0.29668	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.583336	0.15599	N	0.254001	T	0.09468	0.0233	H	0.98295	4.195	0.42799	D	0.993922	D;D;D;D	0.76494	0.982;0.995;0.994;0.999	D;D;P;D	0.79784	0.93;0.955;0.828;0.993	T	0.00391	-1.1769	10	0.87932	D	0	.	8.3872	0.32508	0.0:0.0:1.0:0.0	.	226;226;226;226	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	Y	226	ENSP00000390120:S226Y;ENSP00000411227:S226Y;ENSP00000379651:S226Y;ENSP00000245621:S226Y	ENSP00000245621:S226Y	S	-	2	0	LILRA6	59436797	0.456000	0.25744	0.512000	0.27736	0.176000	0.22953	0.820000	0.27323	1.660000	0.50760	0.174000	0.16983	TCC		0.632	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744985	G	T	54744985	3	4	249	1	0	0	0	0	1	0	0	0	8789	1174	41	5	784	5	LILRA6	19	54744985	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2612341	54744985	4383998	75	17755											
ZNF460	10794	broad.mit.edu	37	chr19	57802944	57802944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgagtgtgggaaggccttCaactgcaggtcacacctcaa	10	9	11	11	0	3	1	3	1	0	0	3	2	3	2	2	3	2	1	2	3	3	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:57802944C>G	ENST00000360338.3	+	3	1357	c.1035C>G	c.(1033-1035)ttC>ttG	p.F345L	ZNF460_ENST00000537645.1_Missense_Mutation_p.F304L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAGGCCTTCAACTGCAGGT	0.488																																						uc002qog.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1033-1035)ttC>ttG		Homo sapiens zinc finger protein 460 (ZNF460), mRNA.							86	79	81					19																	57802944		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802944C>G	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1035C>G	19.37:g.57802944C>G	ENSP00000353491:p.Phe345Leu					ZNF460_uc010ygv.1_Missense_Mutation_p.F304L	p.F345L	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	1357	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	345					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1035C>G	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857023	0.51376	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.46063	0.88;0.88	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62270	0.2414	M	0.87456	2.885	0.25324	N	0.989096	D	0.89917	1.0	D	0.87578	0.998	T	0.49466	-0.8937	9	0.87932	D	0	.	3.5728	0.07923	0.0:0.6264:0.0:0.3736	.	345	Q14592	ZN460_HUMAN	L	304;345	ENSP00000446167:F304L;ENSP00000353491:F345L	ENSP00000353491:F345L	F	+	3	2	ZNF460	62494756	0.000000	0.05858	0.524000	0.27887	0.984000	0.73092	-0.278000	0.08490	1.227000	0.43598	0.650000	0.86243	TTC		0.488	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		G	57802944	C	G	57802944	3	3	249	1	0	0	0	0	1	0	0	0	17921	825	29	5	1045	5	ZNF460	19	57802944	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	3057959	57802944	1326039	76	17756											
SCAND1	51282	broad.mit.edu	37	chr20	34542061	34542061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgttgggactggaaggcTcaggggcaggcggtgaggcc	6	5	21	9	3	1	1	1	1	0	0	1	3	1	3	1	9	0	3	1	9	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:34542061T>C	ENST00000373991.3	-	3	1216	c.146A>G	c.(145-147)gAg>gGg	p.E49G	SCAND1_ENST00000305978.2_Missense_Mutation_p.E49G			P57086	SCND1_HUMAN	SCAN domain containing 1	49					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)					Breast(12;0.00631)|all_lung(11;0.0233)					ACTGGAAGGCTCAGGGGCAGG	0.711																																						uc002xen.2																			0											c.(334-336)gAg>gGg		Homo sapiens SCAN domain containing 1 (SCAND1), transcript variant 2, mRNA.							6	6	6					20																	34542061		2094	4133	6227	SO:0001583	missense	51282				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:34542061T>C	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"-"	10566	protein-coding gene	gene with protein product		610416	"SCAN domain-containing 1"			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.146A>G	20.37:g.34542061T>C	ENSP00000363103:p.Glu49Gly					SCAND1_uc021wct.1_Missense_Mutation_p.E49G|SCAND1_uc002xep.3_Missense_Mutation_p.E49G|SCAND1_uc002xeo.3_Missense_Mutation_p.E49G	p.E112G	NM_033630	NP_361012	P57086	SCND1_HUMAN			1	380	-	Breast(12;0.00631)|all_lung(11;0.0233)		49			SCAN box.		Q6IAG7	Missense_Mutation	SNP	ENST00000373991.3	37	c.335A>G	CCDS13269.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580925	0.46006	.	.	ENSG00000171222	ENST00000305978;ENST00000373991	T;T	0.09538	2.97;2.97	4.93	1.11	0.20524	.	1.201360	0.06511	N	0.738046	T	0.07863	0.0197	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.39482	-0.9612	10	0.72032	D	0.01	.	6.2909	0.21059	0.0:0.0853:0.2996:0.6151	.	49	P57086	SCND1_HUMAN	G	49	ENSP00000301995:E49G;ENSP00000363103:E49G	ENSP00000301995:E49G	E	-	2	0	SCAND1	34005475	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	-0.580000	0.05827	0.185000	0.20105	0.533000	0.62120	GAG		0.711	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078958.2	NM_016558		C	34542061	T	C	34542061	3	2	249	1	0	0	0	0	1	0	0	0	13875	1551	54	4	397	4	SCAND1	20	34542061	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08		34542061	28483459	77	17757											
DLGAP4	22839	broad.mit.edu	37	chr20	35060225	35060225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacccctacctgctgtcGcccacggaggccttcgcccg	5	6	10	20	5	0	0	0	0	0	0	2	1	0	1	6	2	3	2	6	2	2	2	rs371870979		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:35060225G>A	ENST00000373907.2	+	2	304	c.105G>A	c.(103-105)tcG>tcA	p.S35S	DLGAP4_ENST00000339266.5_Silent_p.S35S|DLGAP4_ENST00000401952.2_Silent_p.S35S|DLGAP4_ENST00000373913.3_Silent_p.S35S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	35					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCTGCTGTCGCCCACGGAGG	0.701																																						uc002xff.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(103-105)tcG>tcA		Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	34	36	35		105	-3	1	20		35	0,8596		0,0,4298	no	coding-synonymous	DLGAP4	NM_014902.4		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		35/990	35060225	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060225G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.105G>A	20.37:g.35060225G>A						DLGAP4_uc010zvp.2_Silent_p.S35S	p.S35S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			2	540	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	35					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.105G>A																																																																																					0.701	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35060225	G	A	35060225	2	1	249	1	0	0	0	0	0	0	0	1	4562	1074	38	1		1	DLGAP4	20	35060225	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	518164	35060225	27965295	78	17758											
SHANK3	85358	broad.mit.edu	37	chr22	51160153	51160153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagcgatgaggagaccAgggaggagctggcccgaatt	10	5	16	10	3	0	2	0	1	0	1	1	7	1	4	3	4	2	1	3	4	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr22:51160153A>G	ENST00000414786.2	+	21	4077	c.3850A>G	c.(3850-3852)Agg>Ggg	p.R1284G	SHANK3_ENST00000445220.2_Missense_Mutation_p.R1300G|SHANK3_ENST00000262795.3_Missense_Mutation_p.R1314G			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1298	Pro-rich.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGAGGAGACCAGGGAGGAGCT	0.677																																						uc003bne.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3940-3942)Agg>Ggg		Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.							13	15	14					22																	51160153		2036	4189	6225	SO:0001583	missense	85358							g.chr22:51160153A>G	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3850A>G	22.37:g.51160153A>G	ENSP00000464552:p.Arg1284Gly					SHANK3_uc003bnf.1_Missense_Mutation_p.R761G	p.R1314G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3940	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1314					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.3940A>G		.	.	.	.	.	.	.	.	.	.	A	10.68	1.417296	0.25552	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.39592	1.07;1.07	4.8	-7.43	0.01383	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.68317	2.08	0.09310	N	0.999999	D;D;D	0.67145	0.99;0.981;0.996	P;D;P	0.69824	0.868;0.966;0.867	T	0.59910	-0.7365	10	0.05721	T	0.95	.	18.9	0.92439	0.3386:0.6614:0.0:0.0	.	1298;1299;1314	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	G	1314;1300	ENSP00000442518:R1314G;ENSP00000446078:R1300G	ENSP00000442518:R1314G	R	+	1	2	SHANK3	49507019	0.015000	0.18098	0.618000	0.29105	0.469000	0.32828	-0.024000	0.12435	-1.560000	0.01686	-2.293000	0.00265	AGG		0.677	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		G	51160153	A	G	51160153	3	3	249	1	0	0	0	0	1	0	0	0	14266	179	7	4	4026	4	SHANK3	22	51160153	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08		51160153	144413	79	17759											
APOO	79135	broad.mit.edu	37	chrX	23899048	23899048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaagctcaggctggctgGccccacggacctctgaatta	9	7	12	13	1	2	1	1	1	1	0	2	3	2	2	3	4	2	4	3	4	3	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:23899048G>A	ENST00000379226.4	-	2	262	c.31C>T	c.(31-33)Cca>Tca	p.P11S	APOO_ENST00000379220.3_Missense_Mutation_p.P11S	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	11					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGCTGGCTGGCCCCACGGAC	0.458																																						uc004dax.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(31-33)Cca>Tca		Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.							67	59	62					X																	23899048		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23899048G>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"Apolipoproteins"	28727	protein-coding gene	gene with protein product		300753	"family with sequence similarity 121B"	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.31C>T	X.37:g.23899048G>A	ENSP00000368528:p.Pro11Ser					APOO_uc004day.4_Non-coding_Transcript	p.P11S	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			1	269	-			11					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.31C>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469427	0.26423	.	.	ENSG00000184831	ENST00000379226;ENST00000379220	T;T	0.15603	2.41;2.41	5.01	4.14	0.48551	.	0.172727	0.51477	D	0.000082	T	0.14485	0.0350	L	0.49350	1.555	0.19300	N	0.999979	B	0.24043	0.096	B	0.17098	0.017	T	0.09143	-1.0688	10	0.42905	T	0.14	-0.7104	7.3513	0.26693	0.1165:0.0:0.8835:0.0	.	11	Q9BUR5	APOO_HUMAN	S	11	ENSP00000368528:P11S;ENSP00000368522:P11S	ENSP00000368522:P11S	P	-	1	0	APOO	23808969	0.983000	0.35010	0.865000	0.33974	0.891000	0.51852	3.221000	0.51215	2.444000	0.82710	0.600000	0.82982	CCA		0.458	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		A	23899048	G	A	23899048	3	1	249	1	0	0	0	0	1	0	0	0	813	1203	42	3	593	3	APOO	23	23899048	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		23899048	131371512	80	17760											
MAGEB3	4114	broad.mit.edu	37	chrX	30254384	30254384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctctaatcatgaagAcaaatatgttggtgcagttc	13	11	8	9	0	2	3	1	1	1	2	3	3	2	3	1	1	1	3	1	1	4	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:30254384A>G	ENST00000361644.2	+	5	1080	c.343A>G	c.(343-345)Aca>Gca	p.T115A		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	115	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AATCATGAAGACAAATATGTT	0.403																																						uc022bug.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(343-345)Aca>Gca		Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.							62	55	57					X																	30254384		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254384A>G	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.343A>G	X.37:g.30254384A>G	ENSP00000355198:p.Thr115Ala					MAGEB3_uc004dca.2_Missense_Mutation_p.T115A	p.T115A	NM_002365	NP_002356	O15480	MAGB3_HUMAN			0	343	+			115			MAGE.		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.343A>G	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	A	4.776	0.144306	0.09134	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01474	4.85;4.85	4.1	-6.11	0.02131	.	0.450495	0.19069	N	0.123553	T	0.00724	0.0024	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	10	0.07325	T	0.83	.	8.812	0.34974	0.1826:0.0:0.6959:0.1215	.	115	O15480	MAGB3_HUMAN	A	115	ENSP00000368271:T115A;ENSP00000355198:T115A	ENSP00000355198:T115A	T	+	1	0	MAGEB3	30164305	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.241000	0.02911	-1.653000	0.01500	0.486000	0.48141	ACA		0.403	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		G	30254384	A	G	30254384	3	3	249	1	0	0	0	0	1	0	0	0	9177	275	10	4	345	4	MAGEB3	23	30254384	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	6355336	30254384	125016176	81	17761											
CXorf65	158830	broad.mit.edu	37	chrX	70324148	70324148	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatttggcaagtcttacCgggacactcgcagggggttc	8	10	12	11	2	2	0	1	0	1	0	4	1	2	1	1	4	1	3	1	4	2	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:70324148C>T	ENST00000374251.5	-	5	474	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	142										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CAAGTCTTACCGGGACACTCG	0.517																																						uc011mpo.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.e5+1		Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.							76	60	65					X																	70324148		2203	4300	6503	SO:0001630	splice_region_variant	158830							g.chrX:70324148C>T	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.426+1G>A	X.37:g.70324148C>T						CXorf65_uc011mpp.2_Splice_Site_p.P94_splice	p.P142_splice	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN			5	658	-			142						Silent	SNP	ENST00000374251.5	37	c.426_splice	CCDS35324.1																																																																																				0.517	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265	Silent	T	70324148	C	T	70324148	5	4	249	1	0	0	0	0	0	0	1	0	4117	666	23	2	133	2	CXorf65	23	70324148	Splice_Site	SNP	C	TCGA-41-4097-01A-01D-1353-08	40069764	70324148	84946412	82	17762											
STAG2	10735	broad.mit.edu	37	chrX	123182854	123182854	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgatgtgtttttttacaGcttcaggaaaatcaagatga	15	14	8	4	0	2	3	2	2	0	1	2	4	2	4	0	1	2	2	0	1	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:123182854G>T	ENST00000371160.1	+	10	1109		c.e10-1		STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTTTTACAGCTTCAGGAAA	0.308																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e10-1		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							93	85	88					X																	123182854		2203	4294	6497	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123182854G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.820-1G>T	X.37:g.123182854G>T						STAG2_uc004etz.4_Splice_Site_p.L274_splice|STAG2_uc004eub.3_Splice_Site_p.L274_splice|STAG2_uc004euc.3_Splice_Site_p.L274_splice|STAG2_uc004eud.3_Splice_Site_p.L274_splice|STAG2_uc004eue.3_Splice_Site_p.L274_splice	p.L274_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			10	1224	+			274					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.820_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603616	0.87157	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1337	0.89610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123010535	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.751000	0.98889	2.325000	0.78763	0.600000	0.82982	.		0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron	T	123182854	G	T	123182854	5	4	249	1	0	0	0	0	0	0	1	0	15242	985	34	5	849	5	STAG2	23	123182854	Splice_Site	SNP	G	TCGA-41-4097-01A-01D-1353-08	52858706	123182854	32087706	83	17763											
BRCC3	79184	broad.mit.edu	37	chrX	154344437	154344437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatcctgtgccaggaggaGcaggatgcgtataggaggat	12	7	16	6	1	0	1	0	0	0	1	1	6	1	6	2	5	3	2	2	5	3	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:154344437G>C	ENST00000369462.1	+	9	754	c.729G>C	c.(727-729)gaG>gaC	p.E243D	BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.E218D|BRCC3_ENST00000340647.4_Missense_Mutation_p.E219D|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.E243D	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	243					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCAGGAGGAGCAGGATGCGT	0.478																																						uc004fna.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(727-729)gaG>gaC		Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.							73	66	68					X																	154344437		1994	4162	6156	SO:0001583	missense	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154344437G>C	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.729G>C	X.37:g.154344437G>C	ENSP00000358474:p.Glu243Asp					BRCC3_uc004fnb.3_Missense_Mutation_p.E218D|BRCC3_uc011mzy.2_Missense_Mutation_p.E219D	p.E243D	NM_024332	NP_077308	P46736	BRCC3_HUMAN			8	837	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		243					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.729G>C	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866332	0.71949	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000411985;ENST00000399042	T;T;T;T;T	0.59772	0.24;0.26;0.27;0.51;0.29	4.78	0.16	0.14972	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.61826	-0.6983	10	0.31617	T	0.26	-13.8734	9.3933	0.38386	0.5036:0.0:0.4964:0.0	.	218;243	P46736-2;P46736	.;BRCC3_HUMAN	D	219;218;243;219;243	ENSP00000344103:E219D;ENSP00000328641:E218D;ENSP00000358474:E243D;ENSP00000413170:E219D;ENSP00000381998:E243D	ENSP00000328641:E218D	E	+	3	2	BRCC3	153997631	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.671000	0.25172	-0.222000	0.09958	0.594000	0.82650	GAG		0.478	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		C	154344437	G	C	154344437	3	2	249	1	0	0	0	0	1	0	0	0	1500	962	34	5	763	5	BRCC3	23	154344437	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	31161583	154344437	926123	84	17764											
ZNF642	339559	broad.mit.edu	37	chr1	40945132	40945132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggggcgcccctgtgggaGgatgtgactaaaatgtttga	9	9	17	6	1	0	2	0	2	0	0	0	5	0	4	2	4	0	1	2	4	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:40945132G>A	ENST00000372706.1	+	2	1105	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ZFP69_ENST00000372705.3_Silent_p.E33E			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	33	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCCTGTGGGAGGATGTGACTA	0.532																																						uc010ojk.2																			0		p.W32fs*4(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13						c.(97-99)gaG>gaA		Homo sapiens zinc finger protein 642 (ZNF642), mRNA.							43	45	44					1																	40945132		2203	4300	6503	SO:0001819	synonymous_variant	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40945132G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.99G>A	1.37:g.40945132G>A						ZNF642_uc001cfo.3_Silent_p.E33E|ZNF642_uc009vwb.3_Silent_p.E33E	p.E33E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		1	393	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	33			SCAN box.		Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.99G>A	CCDS30686.1																																																																																				0.532	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		A	40945132	G	A	40945132	2	1	250	1	0	0	0	0	0	0	0	1	18055	991	35	3		3	ZNF642	1	40945132	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		40945132	208305489	1	17765											
FLG	2312	broad.mit.edu	37	chr1	152275826	152275826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgattcaccctggcCggactgtgagtgtctagagc	6	9	12	14	2	2	3	1	2	1	1	2	4	2	4	4	2	1	1	4	2	1	2	rs143233744	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275826C>T	ENST00000368799.1	-	3	11571	c.11536G>A	c.(11536-11538)Ggc>Agc	p.G3846S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3846	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCCTGGCCGGACTGTGAG	0.592									Ichthyosis																													uc001ezu.1																			0		p.S3845S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11536-11538)Ggc>Agc		Homo sapiens filaggrin (FLG), mRNA.		C	SER/GLY	0,4406		0,0,2203	213	221	219		11536	-1.1	0	1	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3846/4062	152275826	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275826C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11536G>A	1.37:g.152275826C>T	ENSP00000357789:p.Gly3846Ser						p.G3846S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11572	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3846			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11536G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894138	0.17613	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.78	-1.06	0.10002	.	.	.	.	.	T	0.00936	0.0031	M	0.67953	2.075	0.09310	N	1	D	0.56035	0.974	P	0.52598	0.703	T	0.31971	-0.9924	9	0.07482	T	0.82	.	3.0509	0.06168	0.0:0.435:0.2269:0.3381	.	3846	P20930	FILA_HUMAN	S	3846	ENSP00000357789:G3846S	ENSP00000357789:G3846S	G	-	1	0	FLG	150542450	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.472000	0.06623	-0.390000	0.07774	0.552000	0.68991	GGC		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152275826	C	T	152275826	3	4	250	1	0	0	0	0	1	0	0	0	5922	652	23	2	653	2	FLG	1	152275826	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	111330694	152275826	96974795	2	17766											
FLG	2312	broad.mit.edu	37	chr1	152275878	152275878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttcatggtgacgCgaccctgagtgcctggagcc	7	8	15	11	2	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1	rs370872906		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275878C>T	ENST00000368799.1	-	3	11519	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3828	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis																													uc001ezu.1																			0		p.G3827W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11482-11484)tcG>tcA		Homo sapiens filaggrin (FLG), mRNA.		C		0,4406		0,0,2203	287	286	286		11484	-4.6	0	1		286	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3828/4062	152275878	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275878C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11484G>A	1.37:g.152275878C>T							p.S3828S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11520	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3828			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11484G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152275878	C	T	152275878	2	4	250	1	0	0	0	0	0	0	0	1	5922	755	27	1		1	FLG	1	152275878	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	52	152275878	96974743	3	17767											
SPTA1	6708	broad.mit.edu	37	chr1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaagatcattttgtcGcctagcagctcgagcacgga	9	10	11	11	3	2	1	2	0	0	1	4	3	2	2	1	2	3	4	1	2	2	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																						uc001fst.1																			1	Substitution - Nonsense(1)	p.R891*(2)	endometrium(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2671-2673)Cga>Tga		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							175	172	173					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*						p.R891*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			18	2870	-	all_hematologic(112;0.0378)		891					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158627401	G	A	158627401	4	1	250	1	0	0	0	0	0	1	0	0	15115	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	6351523	158627401	90623220	4	17768											
SPTA1	6708	broad.mit.edu	37	chr1	158637763	158637763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatctcttggccagttttCtgtatgttttccagctgggt	5	18	9	9	0	3	0	1	0	2	0	5	0	4	0	2	2	1	4	2	2	1	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158637763C>G	ENST00000368147.4	-	15	2103	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	641					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCCAGTTTTCTGTATGTTTT	0.473																																						uc001fst.1																			0		p.I640T(1)|p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1921-1923)caG>caC		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							170	165	167					1																	158637763		1863	4098	5961	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637763C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1923G>C	1.37:g.158637763C>G	ENSP00000357129:p.Gln641His						p.Q641H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			14	2122	-	all_hematologic(112;0.0378)		641					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1923G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215714	0.39102	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	4.95	-0.125	0.13519	.	1.390910	0.05520	N	0.561957	T	0.24314	0.0589	L	0.50333	1.59	0.29807	N	0.831978	B	0.13145	0.007	B	0.25759	0.063	T	0.38373	-0.9664	10	0.49607	T	0.09	.	9.0523	0.36383	0.0:0.6101:0.0:0.3899	.	641	P02549	SPTA1_HUMAN	H	641	ENSP00000357130:Q641H;ENSP00000357129:Q641H	ENSP00000357129:Q641H	Q	-	3	2	SPTA1	156904387	1.000000	0.71417	0.339000	0.25562	0.351000	0.29236	1.414000	0.34736	0.043000	0.15746	0.650000	0.86243	CAG		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158637763	C	G	158637763	3	3	250	1	0	0	0	0	1	0	0	0	15115	912	32	5	5488	5	SPTA1	1	158637763	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	10362	158637763	90612858	5	17769											
C2orf65	130951	broad.mit.edu	37	chr2	74842218	74842218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaacacccttctctcTgtaacatgcggagttctgag	10	12	8	11	1	4	2	0	2	4	0	5	3	4	3	1	1	3	2	1	1	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:74842218T>C	ENST00000290536.5	-	3	415	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.Q100R|M1AP_ENST00000536235.1_Missense_Mutation_p.Q100R	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	100					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CCCTTCTCTCTGTAACATGCG	0.483																																						uc002smy.3																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						c.(298-300)cAg>cGg		Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.							189	174	179					2																	74842218		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74842218T>C		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.299A>G	2.37:g.74842218T>C	ENSP00000290536:p.Gln100Arg					C2orf65_uc010ysa.2_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	p.Q100R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			2	416	-			100					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.299A>G	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	T	1.695	-0.502906	0.04261	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000421985	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.77	0.669	0.17918	.	0.193107	0.45126	D	0.000390	T	0.24084	0.0583	L	0.60455	1.87	0.20489	N	0.999893	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.23476	-1.0187	10	0.20519	T	0.43	-2.4133	7.7524	0.28904	0.0:0.0861:0.5286:0.3853	.	100;100;100	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	R	100	ENSP00000290536:Q100R;ENSP00000386793:Q100R;ENSP00000445662:Q100R;ENSP00000414882:Q100R	ENSP00000290536:Q100R	Q	-	2	0	C2orf65	74695726	0.970000	0.33590	0.005000	0.12908	0.757000	0.42996	1.929000	0.40114	0.093000	0.17368	-0.386000	0.06593	CAG		0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		C	74842218	T	C	74842218	3	2	250	1	0	0	0	0	1	0	0	0	2184	1580	55	4	1329	4	C2orf65	2	74842218	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08		74842218	168357155	6	17770											
IL18RAP	8807	broad.mit.edu	37	chr2	103039783	103039783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcttgttgcaggagagCgaattaaaggatttaatatt	12	15	11	3	1	0	1	0	0	0	1	0	4	0	2	0	3	2	3	0	3	5	8			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:103039783C>T	ENST00000264260.2	+	3	635	c.46C>T	c.(46-48)Cga>Tga	p.R16*	IL18RAP_ENST00000409369.1_5'UTR	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	16					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCAGGAGAGCGAATTAAAGG	0.408																																						uc002tbx.3																			0		p.R16Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(46-48)Cga>Tga		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							257	250	253					2																	103039783		2203	4300	6503	SO:0001587	stop_gained	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103039783C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.46C>T	2.37:g.103039783C>T	ENSP00000264260:p.Arg16*					IL18RAP_uc010fiz.3_5'UTR	p.R16*	NM_003853	NP_003844	O95256	I18RA_HUMAN			2	530	+			16					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Nonsense_Mutation	SNP	ENST00000264260.2	37	c.46C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	36	5.722237	0.96839	.	.	ENSG00000115607	ENST00000264260;ENST00000450855	.	.	.	5.67	3.03	0.35002	.	0.655438	0.15220	N	0.273989	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9588	0.09401	0.6568:0.2144:0.1288:0.0	.	.	.	.	X	16	.	ENSP00000264260:R16X	R	+	1	2	IL18RAP	102406215	0.006000	0.16342	0.044000	0.18714	0.011000	0.07611	0.139000	0.16036	1.085000	0.41206	-0.335000	0.08231	CGA		0.408	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103039783	C	T	103039783	4	4	250	1	0	0	0	0	0	1	0	0	7648	760	27	1	48	1	IL18RAP	2	103039783	Nonsense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	28197565	103039783	140159590	7	17771											
ACOXL	55289	broad.mit.edu	37	chr2	111850527	111850527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgactcccatggccagcaCgaggatcaggaatcaggtaa	12	7	11	11	1	2	1	2	1	0	0	3	4	3	3	2	4	1	2	2	4	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:111850527C>T	ENST00000389811.4	+	18	1840	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	ACOXL_ENST00000439055.1_Missense_Mutation_p.T509M			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	539					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCCAGCACGAGGATCAGG	0.483																																						uc010yxk.1																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(1525-1527)aCg>aTg		Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.							85	82	83					2																	111850527		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111850527C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1616C>T	2.37:g.111850527C>T	ENSP00000374461:p.Thr539Met					ACOXL_uc021vmm.1_Missense_Mutation_p.T362M|ACOXL_uc021vmn.1_Missense_Mutation_p.T332M	p.T509M	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN			16	1750	+			539					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	C	7.282	0.609213	0.14066	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.44482	0.92;0.92;0.92	5.97	-11.9	0.00025	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	1.647740	0.03067	N	0.156627	T	0.12008	0.0292	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.41016	-0.9532	10	0.45353	T	0.12	2.0928	5.0691	0.14596	0.0863:0.3948:0.2654:0.2536	.	509;509;539	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	M	539;509;360;347	ENSP00000374461:T539M;ENSP00000407761:T509M;ENSP00000387832:T347M	ENSP00000374461:T539M	T	+	2	0	ACOXL	111566998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.849000	0.01672	-3.470000	0.00157	-3.010000	0.00075	ACG		0.483	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		T	111850527	C	T	111850527	3	4	250	1	0	0	0	0	1	0	0	0	161	536	19	1	1588	1	ACOXL	2	111850527	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	8810744	111850527	131348846	8	17772											
ABCA12	26154	broad.mit.edu	37	chr2	215855594	215855594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccgagaagctgtagtcCgaaaaatacaggaacaaaat	20	6	8	7	2	0	1	0	0	0	1	1	4	1	2	2	1	4	2	2	1	9	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:215855594C>T	ENST00000272895.7	-	24	3675	c.3456G>A	c.(3454-3456)tcG>tcA	p.S1152S	ABCA12_ENST00000389661.4_Silent_p.S834S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1152					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGTAGTCCGAAAAATACA	0.388																																					Ovarian(66;664 1488 5121 34295)	uc002vew.3																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3454-3456)tcG>tcA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.							107	104	105					2																	215855594		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215855594C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3456G>A	2.37:g.215855594C>T						ABCA12_uc002vev.3_Silent_p.S834S|ABCA12_uc010zjn.2_Silent_p.S79S	p.S1152S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	23	3676	-		Renal(323;0.127)	1152					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.3456G>A	CCDS33372.1																																																																																				0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215855594	C	T	215855594	2	4	250	1	0	0	0	0	0	0	0	1	30	639	23	2		2	ABCA12	2	215855594	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	104005067	215855594	27343779	9	17773											
GLB1L	79411	broad.mit.edu	37	chr2	220108249	220108249	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtagcgtcaggctgAgcggcagcagcagggaacga	11	3	17	10	3	1	1	1	1	0	0	1	3	1	2	0	3	6	7	0	3	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:220108249A>T	ENST00000295759.7	-	2	360	c.47T>A	c.(46-48)cTc>cAc	p.L16H	GLB1L_ENST00000356283.3_Missense_Mutation_p.L16H|STK16_ENST00000409260.1_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.L16H|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.L16H|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409638.3_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	16					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCTGAGCGGCAGCAG	0.612																																						uc002vkm.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(46-48)cTc>cAc		Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.							75	66	69					2																	220108249		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108249A>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.47T>A	2.37:g.220108249A>T	ENSP00000295759:p.Leu16His					GLB1L_uc010zkx.2_Missense_Mutation_p.L16H|GLB1L_uc002vkn.3_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	p.L16H	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	286	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	16					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.47T>A	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395842	0.42512	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.97598	-4.45;-4.22;-4.45;-4.22;-3.5	4.97	3.77	0.43336	.	0.836260	0.10670	N	0.647627	D	0.95007	0.8384	N	0.08118	0	0.09310	N	1	D;D	0.63046	0.992;0.986	P;P	0.60473	0.875;0.754	D	0.88767	0.3261	10	0.42905	T	0.14	-1.3172	9.7948	0.40728	0.8268:0.1732:0.0:0.0	.	16;16	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	16	ENSP00000295759:L16H;ENSP00000386354:L16H;ENSP00000375939:L16H;ENSP00000348628:L16H;ENSP00000400738:L16H	ENSP00000295759:L16H	L	-	2	0	GLB1L	219816493	0.778000	0.28640	0.019000	0.16419	0.689000	0.40095	1.837000	0.39201	0.978000	0.38470	0.460000	0.39030	CTC		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		T	220108249	A	T	220108249	3	4	250	1	0	0	0	0	1	0	0	0	6428	304	11	5	1981	5	GLB1L	2	220108249	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	4252655	220108249	23091124	10	17774											
ACSL3	2181	broad.mit.edu	37	chr2	223781199	223781199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctgcacaggcgtgttttAtgtataattttcagcgtatg	9	16	10	6	2	1	0	1	0	0	0	1	0	1	0	0	1	3	5	0	1	5	8			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:223781199A>G	ENST00000357430.3	+	5	1072	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.M181V	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	181					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCGTGTTTTATGTATAATTT	0.383			T	ETV1	prostate																																	uc002vni.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(541-543)Atg>Gtg		Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	Icosapent(DB00159)						135	131	132					2																	223781199		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223781199A>G	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.541A>G	2.37:g.223781199A>G	ENSP00000350012:p.Met181Val					ACSL3_uc002vnj.3_Missense_Mutation_p.M181V	p.M181V	NM_004457	NP_976251	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	4	992	+		Renal(207;0.0183)	181					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.541A>G	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808865	0.50421	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41065	1.01;1.01;1.01	5.07	5.07	0.68467	AMP-dependent synthetase/ligase (1);	0.080910	0.85682	D	0.000000	T	0.45418	0.1341	L	0.60455	1.87	0.58432	D	0.999997	B	0.29805	0.257	B	0.36030	0.216	T	0.43426	-0.9392	10	0.44086	T	0.13	-22.0277	15.1251	0.72475	1.0:0.0:0.0:0.0	.	181	O95573	ACSL3_HUMAN	V	181;181;29	ENSP00000350012:M181V;ENSP00000375918:M181V;ENSP00000441643:M29V	ENSP00000350012:M181V	M	+	1	0	ACSL3	223489443	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.106000	0.77039	2.031000	0.59945	0.533000	0.62120	ATG		0.383	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		G	223781199	A	G	223781199	3	3	250	1	0	0	0	0	1	0	0	0	178	449	16	4	547	4	ACSL3	2	223781199	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	3672950	223781199	19418174	11	17775											
UGT1A1	54578	broad.mit.edu	37	chr2	234681031	234681031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgccacacctgcgcccCgcagcccacgacctcacctg	6	3	10	22	5	1	0	1	0	0	0	1	1	1	0	7	1	2	1	7	1	0	0	rs28900406	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:234681031C>T	ENST00000305139.6	+	5	1564	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	UGT1A3_ENST00000482026.1_Silent_p.P477P|UGT1A9_ENST00000354728.4_Silent_p.P473P|UGT1A5_ENST00000373414.3_Silent_p.P477P|UGT1A4_ENST00000373409.3_Silent_p.P477P|UGT1A1_ENST00000609637.1_Silent_p.P473P|UGT1A1_ENST00000609767.1_Silent_p.P477P|UGT1A1_ENST00000608381.1_Silent_p.P477P|UGT1A6_ENST00000373424.1_Silent_p.P208P|UGT1A8_ENST00000305208.5_Silent_p.P476P|UGT1A1_ENST00000608383.1_Silent_p.P476P|UGT1A7_ENST00000373426.3_Silent_p.P473P|UGT1A1_ENST00000373450.4_Silent_p.P473P|UGT1A10_ENST00000344644.5_Silent_p.P473P	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	475					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ACCTGCGCCCCGCAGCCCACG	0.602													C|||	16	0.00319489	0.0121	0	5008	,	,		16603	0		0	False		,,,				2504	0					uc002vuw.3																			0		p.A477S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(1429-1431)ccC>ccT		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	C	,,,,,,,,,	58,4348	56.2+/-92.4	1,56,2146	144	121	129		1428,1425,1431,1419,1419,1419,1431,1431,1419,624	-11.7	0	2	dbSNP_125	129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3	NM_000463.2,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,,	1,56,6446	TT,TC,CC		0.0,1.3164,0.4459	,,,,,,,,,	476/534,475/533,477/535,473/531,473/531,473/531,477/535,477/535,473/531,208/266	234681031	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	54579				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234681031C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1425C>T	2.37:g.234681031C>T						UGT1A1_uc002vup.3_Silent_p.P473P|UGT1A1_uc002vur.3_Silent_p.P473P|UGT1A1_uc002vus.3_Silent_p.P473P|UGT1A1_uc002vut.3_Silent_p.P473P|UGT1A1_uc002vuu.3_Silent_p.P208P|UGT1A1_uc002vuv.4_Silent_p.P475P|UGT1A1_uc002vux.3_Silent_p.P477P|UGT1A1_uc002vuy.3_Silent_p.P477P|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.P476P	p.P477P	NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	4	1431	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	476					A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.1431C>T	CCDS2507.1																																																																																				0.602	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		T	234681031	C	T	234681031	2	4	250	1	0	0	0	0	0	0	0	1	16941	639	23	2		2	UGT1A1	2	234681031	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	10899832	234681031	8518342	12	17776											
CYP8B1	1582	broad.mit.edu	37	chr3	42916203	42916203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagatactcctgcccactgGacatcttcagggtatagtct	10	11	8	12	0	3	1	1	0	2	1	4	2	4	2	2	2	2	1	2	2	3	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:42916203G>A	ENST00000316161.4	-	1	1430	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.S369F	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	369					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCCCACTGGACATCTTCAG	0.592																																						uc003cmh.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1105-1107)tCc>tTc		Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.							80	78	79					3																	42916203		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916203G>A	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1106C>T	3.37:g.42916203G>A	ENSP00000318867:p.Ser369Phe					CCBP2_uc003cmg.3_Intron	p.S369F	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	0	1431	-			369					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1106C>T	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398762	0.42512	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.74842	-0.36;-0.88	5.05	4.08	0.47627	.	0.230959	0.34580	N	0.003847	T	0.72771	0.3502	L	0.43152	1.355	0.28599	N	0.909241	P;P	0.48834	0.916;0.586	P;P	0.50314	0.637;0.516	T	0.69709	-0.5072	10	0.62326	D	0.03	-12.1515	11.2254	0.48880	0.0:0.1276:0.7278:0.1446	.	369;369	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	F	369	ENSP00000404499:S369F;ENSP00000318867:S369F	ENSP00000318867:S369F	S	-	2	0	CYP8B1	42891207	1.000000	0.71417	0.954000	0.39281	0.252000	0.25951	3.738000	0.55067	2.338000	0.79540	0.561000	0.74099	TCC		0.592	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		A	42916203	G	A	42916203	3	1	250	1	0	0	0	0	1	0	0	0	4198	1174	41	3	403	3	CYP8B1	3	42916203	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		42916203	155106227	13	17777											
ACY1	95	broad.mit.edu	37	chr3	52020670	52020670	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttatagtgagcggagTccctggtgtaagtatgagct	8	14	13	6	1	1	2	0	2	1	0	2	3	2	3	1	2	2	3	1	2	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:52020670T>C	ENST00000404366.2	+	8	722	c.576T>C	c.(574-576)agT>agC	p.S192S	ACY1_ENST00000458031.2_Silent_p.S282S|ABHD14A-ACY1_ENST00000463937.1_Silent_p.S293S|ACY1_ENST00000476854.1_Silent_p.S192S|ACY1_ENST00000494103.1_Silent_p.S120S|ACY1_ENST00000476351.1_Silent_p.S157S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	192					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GTGAGCGGAGTCCCTGGTGTA	0.567																																						uc003dcp.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(574-576)agT>agC		Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	L-Aspartic Acid(DB00128)						113	115	114					3																	52020670		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52020670T>C	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.576T>C	3.37:g.52020670T>C						ACY1_uc011bea.2_Silent_p.S282S|ACY1_uc011beb.2_Silent_p.S192S|ACY1_uc003dcq.3_Silent_p.S192S|ACY1_uc021wzb.1_Silent_p.S157S|ACY1_uc021wzc.1_Silent_p.S120S|ACY1_uc021wzd.1_Silent_p.S192S	p.S192S	NM_000666	NP_001185824	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	900	+			192					C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	c.576T>C	CCDS2844.1																																																																																				0.567	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		C	52020670	T	C	52020670	2	2	250	1	0	0	0	0	0	0	0	1	226	1664	58	4		4	ACY1	3	52020670	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	9104467	52020670	146001760	14	17778											
PIK3CA	5290	broad.mit.edu	37	chr3	178916881	178916881	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaaacaagacgacttTgtgaccttcggctttttcaa	11	14	8	8	2	1	4	1	3	0	1	2	5	1	4	1	1	1	1	1	1	3	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:178916881T>G	ENST00000263967.3	+	2	425	c.268T>G	c.(268-270)Tgt>Ggt	p.C90G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	90	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(268-270)Tgt>Ggt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							106	101	103					3																	178916881		1820	4076	5896	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916881T>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.268T>G	3.37:g.178916881T>G	ENSP00000263967:p.Cys90Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C90G	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	425	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		90			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.268T>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903674	0.72754	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.75260	-0.92;-0.92	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.87261	0.2279	9	.	.	.	-21.1026	15.4956	0.75646	0.0:0.0:0.0:1.0	.	90	P42336	PK3CA_HUMAN	G	90	ENSP00000263967:C90G;ENSP00000417479:C90G	.	C	+	1	0	PIK3CA	180399575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.059000	0.61396	0.454000	0.30748	TGT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178916881	T	G	178916881	3	3	250	1	0	0	0	0	1	0	0	0	11913	1812	63	5	270	5	PIK3CA	3	178916881	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	126896211	178916881	19105549	15	17779											
ABCC5	10057	broad.mit.edu	37	chr3	183679309	183679309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcttacctcaactggcGgtgtctctcccagcaacagg	9	9	9	14	1	3	1	1	0	2	1	5	1	4	1	2	3	4	1	2	3	3	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:183679309G>A	ENST00000334444.6	-	16	2609	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	ABCC5_ENST00000265586.6_Missense_Mutation_p.P790L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	790					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTCAACTGGCGGTGTCTCTCC	0.478																																						uc003fmg.3																			0		p.P790P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2368-2370)cCg>cTg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.							70	75	74					3																	183679309		2110	4235	6345	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183679309G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2369C>T	3.37:g.183679309G>A	ENSP00000333926:p.Pro790Leu					ABCC5_uc011bqt.2_Missense_Mutation_p.P318L|ABCC5_uc010hxl.3_Missense_Mutation_p.P790L	p.P790L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		15	2534	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		790					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.2369C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042433	0.35989	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91843	-2.71;-2.92	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);	0.058962	0.64402	D	0.000002	D	0.91395	0.7285	M	0.66439	2.03	0.80722	D	1	B;B	0.21905	0.062;0.031	B;B	0.17722	0.019;0.008	D	0.88070	0.2800	10	0.41790	T	0.15	-22.5501	19.1617	0.93535	0.0:0.0:1.0:0.0	.	790;790	Q86UX3;O15440	.;MRP5_HUMAN	L	790;726;790	ENSP00000333926:P790L;ENSP00000265586:P790L	ENSP00000265586:P790L	P	-	2	0	ABCC5	185162003	1.000000	0.71417	0.890000	0.34922	0.071000	0.16799	7.607000	0.82883	2.531000	0.85337	0.591000	0.81541	CCG		0.478	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		A	183679309	G	A	183679309	3	1	250	1	0	0	0	0	1	0	0	0	56	1116	39	2	2004	2	ABCC5	3	183679309	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	4762428	183679309	14343121	16	17780											
RAB28	9364	broad.mit.edu	37	chr4	13481054	13481054	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactttttagtctcttacCtggcaatgttatccttctca	9	17	5	10	0	2	1	1	0	2	1	5	1	3	1	2	1	1	2	2	1	5	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:13481054C>A	ENST00000330852.5	-	2	386	c.172G>T	c.(172-174)Gga>Tga	p.G58*	RAB28_ENST00000338176.4_Splice_Site_p.G58*|RAB28_ENST00000288723.4_Splice_Site_p.G58*	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	58					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AGTCTCTTACCTGGCAATGTT	0.328																																						uc003gmu.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.e2+1		Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.							62	62	62					4																	13481054		2202	4296	6498	SO:0001630	splice_region_variant	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13481054C>A	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.172+1G>T	4.37:g.13481054C>A						RAB28_uc003gmv.2_Splice_Site|RAB28_uc003gmt.2_Splice_Site_p.G58_splice|RAB28_uc011bwz.1_Splice_Site_p.G58_splice	p.G58_splice	NM_001017979	NP_001017979	P51157	RAB28_HUMAN			2	387	-			58					G8JLC5|Q8IYR8|Q8NI05	Nonsense_Mutation	SNP	ENST00000330852.5	37	c.172_splice	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	C	39	7.698624	0.98441	.	.	ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.677	0.91532	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	.	G	-	1	0	RAB28	13090152	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.270000	0.78493	2.652000	0.90054	0.591000	0.81541	GGA		0.328	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979	Nonsense_Mutation	A	13481054	C	A	13481054	5	1	250	1	0	0	0	0	0	0	1	0	12916	695	24	5	657	5	RAB28	4	13481054	Splice_Site	SNP	C	TCGA-41-5651-01A-01D-1696-08		13481054	177673222	17	17781											
GABRA4	2557	broad.mit.edu	37	chr4	46966998	46966998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaatacctgcagaggggCttcaggatgcttctctctct	8	12	10	11	0	4	1	2	0	2	1	6	2	4	2	1	3	3	3	1	3	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:46966998C>A	ENST00000264318.3	-	8	2105	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	375					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGCAGAGGGGCTTCAGGATGC	0.408																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1123-1125)Gcc>Tcc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						77	84	82					4																	46966998		2202	4299	6501	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46966998C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1123G>T	4.37:g.46966998C>A	ENSP00000264318:p.Ala375Ser					GABRA4_uc021xnz.1_Missense_Mutation_p.A356S|GABRA4_uc021xoa.1_Missense_Mutation_p.A305S	p.A375S	NM_000809	NP_000800	P48169	GBRA4_HUMAN			7	2106	-			375					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1123G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	0.950	-0.706620	0.03230	.	.	ENSG00000109158	ENST00000264318	D	0.85171	-1.95	4.81	1.6	0.23607	Neurotransmitter-gated ion-channel transmembrane domain (2);	7739.210000	0.00166	N	0.000000	T	0.71358	0.3330	N	0.14661	0.345	0.19775	N	0.999957	B	0.10296	0.003	B	0.14023	0.01	T	0.58640	-0.7601	10	0.09338	T	0.73	.	3.765	0.08619	0.1632:0.5136:0.0:0.3231	.	375	P48169	GBRA4_HUMAN	S	375	ENSP00000264318:A375S	ENSP00000264318:A375S	A	-	1	0	GABRA4	46661755	0.061000	0.20836	0.307000	0.25127	0.064000	0.16182	0.423000	0.21313	0.083000	0.17047	0.591000	0.81541	GCC		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			A	46966998	C	A	46966998	3	1	250	1	0	0	0	0	1	0	0	0	6163	797	28	5	549	5	GABRA4	4	46966998	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	33485944	46966998	144187278	18	17782											
CDH12	1010	broad.mit.edu	37	chr5	21817224	21817224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataggggaagactcaggaaCtttcaagtggaagatgcctg	14	8	13	6	0	2	2	2	0	0	2	2	5	2	5	1	4	2	0	1	4	6	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:21817224C>A	ENST00000382254.1	-	9	1918	c.832G>T	c.(832-834)Gtt>Ttt	p.V278F	CDH12_ENST00000504376.2_Missense_Mutation_p.V278F|CDH12_ENST00000522262.1_Missense_Mutation_p.V238F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCAGGAACTTTCAAGTGG	0.363										HNSCC(59;0.17)																												uc010iuc.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(832-834)Gtt>Ttt		Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.							54	54	54					5																	21817224		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817224C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.832G>T	5.37:g.21817224C>A	ENSP00000371689:p.Val278Phe	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.V238F|CDH12_uc003jgk.2_Missense_Mutation_p.V278F	p.V278F	NM_004061	NP_004052	P55289	CAD12_HUMAN			5	1290	-			278			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.832G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895628	0.72639	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.4;0.4;0.4	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.92367	3.3	0.53688	D	0.99997	D;D	0.89917	0.985;1.0	D;D	0.91635	0.962;0.999	D	0.85435	0.1151	10	0.87932	D	0	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	238;278	B7Z2U6;P55289	.;CAD12_HUMAN	F	278;278;238	ENSP00000423577:V278F;ENSP00000371689:V278F;ENSP00000428786:V238F	ENSP00000371689:V278F	V	-	1	0	CDH12	21852981	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.651000	0.67951	2.435000	0.82474	0.585000	0.79938	GTT		0.363	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21817224	C	A	21817224	3	1	250	1	0	0	0	0	1	0	0	0	3098	565	20	5	1580	5	CDH12	5	21817224	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		21817224	159098036	19	17783											
HEATR7B2	133558	broad.mit.edu	37	chr5	41049447	41049447	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttcttctcctctgccAtaatcagaattctgatgata	9	15	6	11	0	5	3	1	2	4	1	6	3	5	3	2	0	2	2	2	0	3	5	rs565442512		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:41049447A>T	ENST00000399564.4	-	14	1886	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K	MROH2B_ENST00000506092.2_Missense_Mutation_p.M34K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	479																	CTCCTCTGCCATAATCAGAAT	0.463																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1435-1437)aTg>aAg		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							80	76	78					5																	41049447		1940	4147	6087	SO:0001583	missense	133558						binding	g.chr5:41049447A>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1436T>A	5.37:g.41049447A>T	ENSP00000382476:p.Met479Lys					HEATR7B2_uc003jmi.4_Missense_Mutation_p.M34K	p.M479K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			13	1926	-			479					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1436T>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728393	0.48833	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06849	3.25;3.25	5.7	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.56097	D	0.000038	T	0.08358	0.0208	L	0.54323	1.7	0.34300	D	0.684229	P	0.37015	0.578	B	0.35510	0.204	T	0.15896	-1.0421	10	0.30078	T	0.28	.	7.6266	0.28216	0.9079:0.0:0.0921:0.0	.	479	Q7Z745	HTRB2_HUMAN	K	34;183;479	ENSP00000441504:M34K;ENSP00000382476:M479K	ENSP00000296803:M183K	M	-	2	0	HEATR7B2	41085204	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	1.957000	0.40392	2.185000	0.69588	0.528000	0.53228	ATG		0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41049447	A	T	41049447	3	4	250	1	0	0	0	0	1	0	0	0	7035	217	8	5	3437	5	HEATR7B2	5	41049447	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	19232223	41049447	139865813	20	17784											
MAP1B	4131	broad.mit.edu	37	chr5	71494424	71494424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttctcctctccaagaaGatactctatccgatgttgct	8	14	6	13	2	3	2	0	0	3	2	7	3	4	2	3	0	2	3	3	0	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:71494424G>T	ENST00000296755.7	+	5	5540	c.5242G>T	c.(5242-5244)Gat>Tat	p.D1748Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1748					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCAAGAAGATACTCTATC	0.478																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5242-5244)Gat>Tat		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							135	143	141					5																	71494424		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494424G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5242G>T	5.37:g.71494424G>T	ENSP00000296755:p.Asp1748Tyr					MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	p.D1748Y	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	5483	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1748					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5242G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869421	0.51588	.	.	ENSG00000131711	ENST00000296755	T	0.04049	3.72	5.22	5.22	0.72569	.	0.277119	0.30879	N	0.008682	T	0.08537	0.0212	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.57257	0.979;0.979	P;P	0.54401	0.751;0.751	T	0.31916	-0.9926	10	0.87932	D	0	-13.6132	19.1387	0.93439	0.0:0.0:1.0:0.0	.	1622;1748	A2BDK6;P46821	.;MAP1B_HUMAN	Y	1748	ENSP00000296755:D1748Y	ENSP00000296755:D1748Y	D	+	1	0	MAP1B	71530180	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.967000	0.70403	2.608000	0.88229	0.448000	0.29417	GAT		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71494424	G	T	71494424	3	4	250	1	0	0	0	0	1	0	0	0	9228	942	33	5	5260	5	MAP1B	5	71494424	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	30444977	71494424	109420836	21	17785											
LHFPL2	10184	broad.mit.edu	37	chr5	77784735	77784735	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaactaaaggaggcagatCagatttttcccctcttcaat	13	11	6	11	0	3	2	2	0	1	2	4	3	4	3	3	2	1	1	3	2	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:77784735C>G	ENST00000515007.2	-	3	982	c.672G>C	c.(670-672)ctG>ctC	p.L224L	LHFPL2_ENST00000380345.2_Silent_p.L224L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	224						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGGCAGATCAGATTTTTCC	0.418																																						uc003kfo.3																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(670-672)ctG>ctC		Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.							136	135	136					5																	77784735		2203	4300	6503	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77784735C>G	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.672G>C	5.37:g.77784735C>G							p.L224L	NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	1348	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	224					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.672G>C	CCDS4042.1																																																																																				0.418	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		G	77784735	C	G	77784735	2	3	250	1	0	0	0	0	0	0	0	1	8765	813	29	5		5	LHFPL2	5	77784735	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	6290311	77784735	103130525	22	17786											
PKD2L2	27039	broad.mit.edu	37	chr5	137257377	137257377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattttgctggtattcagCaagccaatcctatcttggga	10	15	8	8	0	2	0	1	0	1	0	3	1	3	1	2	2	3	3	2	2	5	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:137257377C>G	ENST00000508883.1	+	9	1407	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000350250.4_Missense_Mutation_p.Q427E|PKD2L2_ENST00000290431.5_Missense_Mutation_p.Q461E|PKD2L2_ENST00000502810.1_Missense_Mutation_p.Q439E			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	461					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTATTCAGCAAGCCAATCC	0.308																																						uc003lby.3																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1381-1383)Caa>Gaa		Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.							168	153	158					5																	137257377		1805	4072	5877	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137257377C>G	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1381C>G	5.37:g.137257377C>G	ENSP00000424725:p.Gln461Glu					PKD2L2_uc003lbw.1_Missense_Mutation_p.Q461E|PKD2L2_uc003lbx.3_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.Q69E	p.Q461E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1437	+			461					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1381C>G		.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183974	0.06340	.	.	ENSG00000078795	ENST00000350250;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.89	4.95	0.65309	Polycystin cation channel, PKD1/PKD2 (1);	0.103076	0.43416	D	0.000570	T	0.45498	0.1345	N	0.13272	0.32	0.29229	N	0.873384	B;B	0.22003	0.004;0.063	B;B	0.21151	0.017;0.033	T	0.17379	-1.0371	10	0.02654	T	1	-6.08	15.0063	0.71516	0.212:0.788:0.0:0.0	.	461;461	Q9NZM6;Q9NZM6-5	PK2L2_HUMAN;.	E	427;439;461;461	ENSP00000344177:Q427E;ENSP00000425513:Q439E;ENSP00000424725:Q461E;ENSP00000290431:Q461E	ENSP00000290431:Q461E	Q	+	1	0	PKD2L2	137285276	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	0.436000	0.21526	2.797000	0.96272	0.563000	0.77884	CAA		0.308	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		G	137257377	C	G	137257377	3	3	250	1	0	0	0	0	1	0	0	0	11968	711	25	5	1415	5	PKD2L2	5	137257377	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	59472642	137257377	43657883	23	17787											
ODZ2	57451	broad.mit.edu	37	chr5	167551889	167551889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgctccagccacggAgtctgtgtgaatggagaatg	9	8	12	12	1	1	2	0	1	1	1	2	4	2	3	4	2	2	1	4	2	2	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:167551889A>G	ENST00000518659.1	+	11	2082	c.2043A>G	c.(2041-2043)ggA>ggG	p.G681G	TENM2_ENST00000403607.2_Silent_p.G514G|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.G449G|TENM2_ENST00000519204.1_Silent_p.G560G|TENM2_ENST00000545108.1_Silent_p.G681G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	681	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCAGCCACGGAGTCTGTGTGA	0.512																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(2041-2043)ggA>ggG		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							43	45	44					5																	167551889		2134	4242	6376	SO:0001819	synonymous_variant	57451							g.chr5:167551889A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2043A>G	5.37:g.167551889A>G						ODZ2_uc003lzr.4_Silent_p.G449G|ODZ2_uc003lzt.4_Silent_p.G45G|ODZ2_uc010jje.3_5'UTR	p.G681G	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	10	2043	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.2043A>G																																																																																					0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167551889	A	G	167551889	2	3	250	1	0	0	0	0	0	0	0	1	10835	291	11	4		4	ODZ2	5	167551889	Silent	SNP	A	TCGA-41-5651-01A-01D-1696-08	30294512	167551889	13363371	24	17788											
TRIM10	10107	broad.mit.edu	37	chr6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcctcaggtgtgCgaactcagaaatcacctgtt	12	11	8	10	1	3	2	3	0	0	2	4	3	4	2	2	1	3	1	2	1	4	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:30126364C>T	ENST00000449742.2	-	3	643	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	190					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512																																						uc003npo.3																			1	Substitution - Missense(1)	p.A190T(1)	prostate(1)	ovary(1)	1						c.(568-570)Gca>Aca		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							262	283	276					6																	30126364		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30126364C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.568G>A	6.37:g.30126364C>T	ENSP00000397073:p.Ala190Thr					TRIM10_uc003npn.2_Missense_Mutation_p.A190T	p.A190T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			2	644	-			190					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.568G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	6.673	0.492709	0.12702	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04758	3.56;3.56	5.68	0.586	0.17434	.	0.376195	0.22913	N	0.054107	T	0.01835	0.0058	M	0.71581	2.175	0.18873	N	0.999986	B;B	0.28971	0.147;0.229	B;B	0.28709	0.035;0.093	T	0.40701	-0.9549	10	0.49607	T	0.09	.	2.9036	0.05713	0.2355:0.5001:0.121:0.1434	.	190;190	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	190	ENSP00000397073:A190T;ENSP00000365894:A190T	ENSP00000365894:A190T	A	-	1	0	TRIM10	30234343	0.001000	0.12720	0.124000	0.21820	0.005000	0.04900	-0.436000	0.06922	0.072000	0.16694	-2.526000	0.00183	GCA		0.512	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			T	30126364	C	T	30126364	3	4	250	1	0	0	0	0	1	0	0	0	16483	768	27	1	985	1	TRIM10	6	30126364	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		30126364	140988703	25	17789											
HLA-DOB	3112	broad.mit.edu	37	chr6	32782142	32782142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctggagtgatcgacaaGgcaggtgtagacatgtccaa	12	7	14	8	1	0	2	0	1	0	1	2	4	1	3	1	4	0	3	1	4	3	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:32782142G>C	ENST00000438763.2	-	3	694	c.598C>G	c.(598-600)Ctt>Gtt	p.L200V	TAP2_ENST00000452392.2_Missense_Mutation_p.L807V	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	200	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						TGATCGACAAGGCAGGTGTAG	0.502																																						uc011dqf.1																			0											c.(2419-2421)Ctt>Gtt		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.							176	152	161					6																	32782142		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782142G>C		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.598C>G	6.37:g.32782142G>C	ENSP00000390020:p.Leu200Val					TAP2_uc003oca.3_Missense_Mutation_p.L200V|TAP2_uc011dqg.1_Missense_Mutation_p.L200V	p.L807V	NM_018833	NP_061313	Q03519	TAP2_HUMAN			13	2541	-			0					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2419C>G	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086138	0.55861	.	.	ENSG00000241106;ENSG00000250264	ENST00000438763;ENST00000452392	T;T	0.02709	4.19;4.19	3.96	3.96	0.45880	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.678460	0.14915	N	0.290989	T	0.01905	0.0060	N	0.17082	0.46	0.38930	D	0.957919	P;P;P	0.47191	0.801;0.872;0.891	P;P;B	0.47744	0.516;0.556;0.315	T	0.63229	-0.6684	10	0.87932	D	0	.	14.3592	0.66757	0.0:0.0:1.0:0.0	.	200;807;200	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	V	200;807	ENSP00000390020:L200V;ENSP00000391806:L807V	ENSP00000390020:L200V	L	-	1	0	XXbac-BPG246D15.9;HLA-DOB	32890120	1.000000	0.71417	0.956000	0.39512	0.931000	0.56810	3.725000	0.54970	2.494000	0.84150	0.643000	0.83706	CTT		0.502	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		C	32782142	G	C	32782142	3	2	250	1	0	0	0	0	1	0	0	0	7201	1000	35	5	239	5	HLA-DOB	6	32782142	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	2655778	32782142	138332925	26	17790											
DNAH8	1769	broad.mit.edu	37	chr6	38840400	38840400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttatcacgattctaatgaAggcgcaaacagaatgcggaa	15	8	10	8	4	2	2	1	1	1	1	2	4	2	3	0	2	2	2	0	2	6	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:38840400A>G	ENST00000359357.3	+	48	6682	c.6428A>G	c.(6427-6429)aAg>aGg	p.K2143R	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2360R|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2107R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2143	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCTAATGAAGGCGCAAACA	0.453																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7078-7080)aAg>aGg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							114	108	110					6																	38840400		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840400A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6428A>G	6.37:g.38840400A>G	ENSP00000352312:p.Lys2143Arg					DNAH8_uc003ooe.2_Missense_Mutation_p.K2143R	p.K2360R	NM_001206927	NP_001193856					49	7188	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7079A>G		.	.	.	.	.	.	.	.	.	.	A	5.629	0.300666	0.10678	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54279	0.58;0.58;0.58	5.62	4.45	0.53987	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.107337	0.64402	D	0.000008	T	0.20820	0.0501	L	0.28504	0.86	0.43531	D	0.99581	B	0.21381	0.055	B	0.32928	0.155	T	0.15578	-1.0432	10	0.17832	T	0.49	.	4.3619	0.11206	0.6836:0.0:0.1594:0.1569	.	2143	Q96JB1	DYH8_HUMAN	R	2348;2348;2143;2107	ENSP00000333363:K2348R;ENSP00000352312:K2143R;ENSP00000402294:K2107R	ENSP00000333363:K2348R	K	+	2	0	DNAH8	38948378	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	1.077000	0.30741	2.255000	0.74692	0.533000	0.62120	AAG		0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38840400	A	G	38840400	3	3	250	1	0	0	0	0	1	0	0	0	4607	72	3	4	6610	4	DNAH8	6	38840400	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	6058258	38840400	132274667	27	17791											
KCNK5	8645	broad.mit.edu	37	chr6	39159464	39159464	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaagggacagccaggccagCcccaagtagatccagagctc	14	3	11	13	0	0	2	0	0	0	2	2	3	1	3	5	2	3	2	5	2	4	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:39159464C>A	ENST00000359534.3	-	5	1040	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCAGGCCAGCCCCAAGTAGA	0.577																																						uc003oon.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(700-702)ggG>ggT		Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.							83	94	90					6																	39159464		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159464C>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.702G>T	6.37:g.39159464C>A							p.G234G	NM_003740	NP_003731	O95279	KCNK5_HUMAN			4	1066	-			234					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.702G>T	CCDS4841.1																																																																																				0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		A	39159464	C	A	39159464	2	1	250	1	0	0	0	0	0	0	0	1	8069	726	26	5		5	KCNK5	6	39159464	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	319064	39159464	131955603	28	17792											
LRFN2	57497	broad.mit.edu	37	chr6	40360425	40360425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccagcagcgtggccaCgatgatgcccccgatgacca	11	4	12	14	3	0	3	0	2	0	1	0	6	0	3	5	1	3	1	5	1	1	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:40360425C>T	ENST00000338305.6	-	3	2169	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	543						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGTGGCCACGATGATGCCC	0.607																																						uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1627-1629)Gtg>Atg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.							86	64	71					6																	40360425		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360425C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1627G>A	6.37:g.40360425C>T	ENSP00000345985:p.Val543Met						p.V543M	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	2092	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		543					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1627G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.454934	0.84209	.	.	ENSG00000156564	ENST00000338305	T	0.69040	-0.37	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.82102	0.4964	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84390	0.0554	10	0.59425	D	0.04	.	17.7543	0.88445	0.0:1.0:0.0:0.0	.	543	Q9ULH4	LRFN2_HUMAN	M	543	ENSP00000345985:V543M	ENSP00000345985:V543M	V	-	1	0	LRFN2	40468403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.774000	0.85478	2.527000	0.85204	0.651000	0.88453	GTG		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40360425	C	T	40360425	3	4	250	1	0	0	0	0	1	0	0	0	8938	536	19	1	746	1	LRFN2	6	40360425	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	1200961	40360425	130754642	29	17793											
TREML1	340205	broad.mit.edu	37	chr6	41121571	41121571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccaccatgcagccatactCgccagcatcctcttcctgca	9	9	5	18	1	1	0	0	0	1	0	5	0	4	0	6	0	5	3	6	0	1	2	rs370662718		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:41121571C>T	ENST00000426005.2	-	2	344	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TREML1_ENST00000373127.4_Missense_Mutation_p.E101K|TREML1_ENST00000437044.2_Intron	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	101	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCATACTCGCCAGCATCC	0.602																																						uc011duc.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13						c.(301-303)Gag>Aag		Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	48	55	53		301	4.2	0.9	6		53	0,8600		0,0,4300	no	missense	TREML1	NM_178174.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	101/312	41121571	1,13005	2203	4300	6503	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121571C>T	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.301G>A	6.37:g.41121571C>T	ENSP00000402855:p.Glu101Lys					TREML1_uc003opx.3_Missense_Mutation_p.E101K|TREML1_uc011dud.2_Intron	p.E101K	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			1	345	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		101			Ig-like V-type.		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.301G>A	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859420	0.51376	2.27E-4	0.0	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.65364	-0.15;-0.15	5.97	4.17	0.49024	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.317710	0.27411	N	0.019489	T	0.28665	0.0710	L	0.47716	1.5	0.80722	D	1	D;P	0.60575	0.988;0.931	B;B	0.42343	0.384;0.245	T	0.49163	-0.8968	10	0.02654	T	1	.	8.7109	0.34382	0.0:0.7684:0.1507:0.0808	.	101;101	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	K	101	ENSP00000362219:E101K;ENSP00000402855:E101K	ENSP00000362219:E101K	E	-	1	0	TREML1	41229549	0.135000	0.22499	0.917000	0.36280	0.916000	0.54674	0.286000	0.18902	0.826000	0.34661	0.655000	0.94253	GAG		0.602	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		T	41121571	C	T	41121571	3	4	250	1	0	0	0	0	1	0	0	0	16469	893	31	2	652	2	TREML1	6	41121571	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	761146	41121571	129993496	30	17794											
TDRD6	221400	broad.mit.edu	37	chr6	46658201	46658201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagtagaagtcagagtgtCttatgttgaaaaccctggct	12	12	10	7	0	2	3	1	1	1	2	2	3	2	3	1	1	2	3	1	1	6	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:46658201C>G	ENST00000316081.6	+	1	2336	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.S779C	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	779					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCAGAGTGTCTTATGTTGAA	0.388																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2335-2337)tCt>tGt		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.							62	63	62					6																	46658201		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658201C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2336C>G	6.37:g.46658201C>G	ENSP00000346065:p.Ser779Cys					TDRD6_uc010jze.3_Missense_Mutation_p.S779C	p.S779C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	2590	+			779					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2336C>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703644	0.68501	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11930	2.73;2.73	5.85	5.85	0.93711	Maternal tudor protein (1);	0.049426	0.85682	D	0.000000	T	0.30448	0.0765	M	0.62088	1.915	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.01165	-1.1431	10	0.66056	D	0.02	-18.543	20.1577	0.98120	0.0:1.0:0.0:0.0	.	779;779	F5H5M3;O60522	.;TDRD6_HUMAN	C	779	ENSP00000443299:S779C;ENSP00000346065:S779C	ENSP00000346065:S779C	S	+	2	0	TDRD6	46766160	1.000000	0.71417	0.933000	0.37362	0.265000	0.26407	5.750000	0.68712	2.767000	0.95098	0.655000	0.94253	TCT		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46658201	C	G	46658201	3	3	250	1	0	0	0	0	1	0	0	0	15731	913	32	5	2338	5	TDRD6	6	46658201	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	5536630	46658201	124456866	31	17795											
KIF25	3834	broad.mit.edu	37	chr6	168443352	168443352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccgtggccatgcccCgtaccggaacagcaggctca	9	4	13	15	3	1	0	1	0	0	0	1	2	1	2	5	4	5	4	5	4	2	1	rs368749020		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:168443352C>T	ENST00000443060.2	+	9	1332	c.941C>T	c.(940-942)cCg>cTg	p.P314L	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.P314L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCATGCCCCGTACCGGAAC	0.652													C|||	1	0.000199681	0	0	5008	,	,		17772	0		0	False		,,,				2504	0.001					uc003qwk.1																			0		p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(940-942)cCg>cTg		Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.		C	,LEU/PRO	0,4406		0,0,2203	110	106	107		,941	4.1	0.1	6		107	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	KIF25	NM_005355.3,NM_030615.2	,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,314/385	168443352	1,13005	2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443352C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.941C>T	6.37:g.168443352C>T	ENSP00000388878:p.Pro314Leu					KIF25_uc003qwl.1_Intron	p.P314L	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1203	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	314					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.941C>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397165	0.42512	0.0	1.16E-4	ENSG00000125337	ENST00000443060;ENST00000354419	D;D	0.83335	-1.71;-1.71	4.13	4.13	0.48395	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.92367	3.3	0.80722	D	1	D	0.65815	0.995	P	0.60415	0.874	D	0.92121	0.5704	10	0.66056	D	0.02	-2.5262	13.6293	0.62186	0.0:1.0:0.0:0.0	.	314	Q9UIL4	KIF25_HUMAN	L	314	ENSP00000388878:P314L;ENSP00000346401:P314L	ENSP00000346401:P314L	P	+	2	0	KIF25	168186201	0.989000	0.36119	0.051000	0.19133	0.012000	0.07955	4.012000	0.57131	2.011000	0.59026	0.543000	0.68304	CCG		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			T	168443352	C	T	168443352	3	4	250	1	0	0	0	0	1	0	0	0	8293	652	23	2	967	2	KIF25	6	168443352	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	121785151	168443352	2671715	32	17796											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|C7orf26_ENST00000344417.5_5'Flank|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						uc003sqi.3																			2	Substitution - Missense(2)	p.R300H(4)|p.Q299*(1)	upper_aerodigestive_tract(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(898-900)cGt>cAt		Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.							122	109	113					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	p.R300H	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1257	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		A	6628405	G	A	6628405	3	1	250	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		6628405	152510258	33	17797											
GHRHR	2692	broad.mit.edu	37	chr7	31014610	31014610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggacctggacgacacctcCccctactggtggatcatcaa	9	8	10	14	1	2	0	2	0	0	0	3	4	3	3	4	4	1	0	4	4	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:31014610C>T	ENST00000326139.2	+	9	883	c.837C>T	c.(835-837)tcC>tcT	p.S279S	GHRHR_ENST00000409904.3_Silent_p.S215S|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Missense_Mutation_p.P46S	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	279					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACGACACCTCCCCCTACTGGT	0.587											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tbx.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(835-837)tcC>tcT		Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	Sermorelin(DB00010)						164	142	149					7																	31014610		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31014610C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.837C>T	7.37:g.31014610C>T			OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	GHRHR_uc003tby.3_Silent_p.S215S|GHRHR_uc003tbz.3_Missense_Mutation_p.P46S	p.S279S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			8	885	+			279					Q99863	Silent	SNP	ENST00000326139.2	37	c.837C>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896605	0.33535	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.51	3.68	0.42216	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	P	0.38335	0.627	B	0.39258	0.295	T	0.18493	-1.0335	6	.	.	.	.	10.2578	0.43408	0.0:0.8565:0.0:0.1435	.	46	Q9HB43	.	S	67;46	.	.	P	+	1	0	GHRHR	30981135	0.945000	0.32115	1.000000	0.80357	0.736000	0.42039	-0.019000	0.12546	2.582000	0.87167	0.650000	0.86243	CCC		0.587	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			T	31014610	C	T	31014610	2	4	250	1	0	0	0	0	0	0	0	1	6373	610	22	3		3	GHRHR	7	31014610	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	24386205	31014610	128124053	34	17798											
SAMD9L	219285	broad.mit.edu	37	chr7	92765183	92765183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcactgagcagaatttgCccgtattgctcattaatctt	9	16	6	10	1	4	2	2	1	2	1	4	2	4	2	1	0	3	3	1	0	3	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:92765183C>T	ENST00000318238.4	-	5	1318	c.102G>A	c.(100-102)ggG>ggA	p.G34G	SAMD9L_ENST00000411955.1_Silent_p.G34G|SAMD9L_ENST00000437805.1_Silent_p.G34G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	34	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAGAATTTGCCCGTATTGCT	0.403																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(100-102)ggG>ggA		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							118	118	118					7																	92765183		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92765183C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.102G>A	7.37:g.92765183C>T						SAMD9L_uc003umj.1_Silent_p.G34G|SAMD9L_uc003umi.1_Silent_p.G34G|SAMD9L_uc010lfb.1_Silent_p.G34G|SAMD9L_uc003umk.1_Silent_p.G34G|SAMD9L_uc010lfc.1_Silent_p.G34G|SAMD9L_uc010lfd.1_Silent_p.G34G|SAMD9L_uc022ahh.1_Silent_p.G34G	p.G34G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	1318	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		34			SAM.		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.102G>A	CCDS34681.1																																																																																				0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		T	92765183	C	T	92765183	2	4	250	1	0	0	0	0	0	0	0	1	13827	726	26	3		3	SAMD9L	7	92765183	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	61750573	92765183	66373480	35	17799											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844679	147844679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgatgaccagtggcaccGggtcactgcagagaggaatg	12	5	14	10	2	1	2	1	1	0	1	1	5	1	3	2	3	2	2	2	3	2	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:147844679G>A	ENST00000361727.3	+	17	3167	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	884	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTGGCACCGGGTCACTGCA	0.582										HNSCC(39;0.1)																												uc003weu.2																			0		p.R884W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2650-2652)cGg>cAg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							120	111	114					7																	147844679		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844679G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2651G>A	7.37:g.147844679G>A	ENSP00000354778:p.Arg884Gln	HNSCC(39;0.1)					p.R884Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		16	3167	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	884			Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2651G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333119	0.81801	.	.	ENSG00000174469	ENST00000361727	T	0.78126	-1.15	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.143105	0.47852	D	0.000209	T	0.71256	0.3318	L	0.46567	1.45	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.68236	-0.5462	10	0.14252	T	0.57	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	884	Q9UHC6	CNTP2_HUMAN	Q	884	ENSP00000354778:R884Q	ENSP00000354778:R884Q	R	+	2	0	CNTNAP2	147475612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.621000	0.74228	2.507000	0.84556	0.561000	0.74099	CGG		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147844679	G	A	147844679	3	1	250	1	0	0	0	0	1	0	0	0	3647	1116	39	2	2717	2	CNTNAP2	7	147844679	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	55079496	147844679	11293984	36	17800											
UBE3C	9690	broad.mit.edu	37	chr7	156963055	156963055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtcacagtccgggggcGcttttcccattgctaatggc	5	12	11	13	2	1	0	1	0	0	0	3	0	3	0	3	3	1	2	3	3	1	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:156963055G>A	ENST00000348165.5	+	4	613	c.253G>A	c.(253-255)Gct>Act	p.A85T	UBE3C_ENST00000389103.4_Missense_Mutation_p.A42T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	85					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTCCGGGGGCGCTTTTCCCAT	0.398																																						uc010lqs.3																			0		p.G84G(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(253-255)Gct>Act		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							153	147	149					7																	156963055		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156963055G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.253G>A	7.37:g.156963055G>A	ENSP00000309198:p.Ala85Thr					UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	p.A85T	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	3	565	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	85					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.253G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.585210	0.00872	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.43294	0.95	4.82	-2.14	0.07123	.	0.444511	0.24490	N	0.038079	T	0.13030	0.0316	N	0.02802	-0.49	0.21220	N	0.999754	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.24728	-1.0152	10	0.12430	T	0.62	.	5.7305	0.18036	0.5825:0.0:0.2993:0.1182	.	85;85;42	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	T	85;42	ENSP00000309198:A85T	ENSP00000309198:A85T	A	+	1	0	UBE3C	156655816	0.028000	0.19301	0.014000	0.15608	0.084000	0.17831	-0.112000	0.10791	-0.723000	0.04915	-2.348000	0.00243	GCT		0.398	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	156963055	G	A	156963055	3	1	250	1	0	0	0	0	1	0	0	0	16878	1087	38	1	267	1	UBE3C	7	156963055	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	9118376	156963055	2175608	37	17801											
ADAM28	10863	broad.mit.edu	37	chr8	24199261	24199261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatggaactaagtgtggCgataacaaggtaagttgaaa	16	8	12	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	2	1	3	7	4	rs149263503	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:24199261C>T	ENST00000265769.4	+	16	1931	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	607	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G607G(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			2	Substitution - coding silent(2)	p.G607G(3)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1819-1821)ggC>ggT		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.		T		4,4402	8.1+/-20.4	0,4,2199	176	170	172		1821	-11.3	0	8	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ADAM28	NM_014265.4		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		607/776	24199261	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199261C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1821C>T	8.37:g.24199261C>T						ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G294G	p.G607G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	15	1904	+		Prostate(55;0.0959)	607			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1821C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	c	3.672	-0.067409	0.07273	9.08E-4	0.0	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.83	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3085	0.00284	0.2618:0.1589:0.238:0.3413	.	.	.	.	X	240;33	.	.	R	+	1	2	ADAM28	24255206	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.125000	0.03257	-2.063000	0.00890	-1.885000	0.00541	CGA		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		T	24199261	C	T	24199261	2	4	250	1	0	0	0	0	0	0	0	1	246	755	27	1		1	ADAM28	8	24199261	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08		24199261	122164761	38	17802											
PXDNL	137902	broad.mit.edu	37	chr8	52387699	52387699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgttggaatccagaCgcctaggcatgcaggcaaga	11	5	14	11	2	0	2	0	0	0	2	1	3	1	3	3	4	1	4	3	4	3	2	rs199619104		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:52387699C>T	ENST00000356297.4	-	7	627	c.527G>A	c.(526-528)cGt>cAt	p.R176H	PXDNL_ENST00000543296.1_Missense_Mutation_p.R176H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	176					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAATCCAGACGCCTAGGCAT	0.468																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(526-528)cGt>cAt		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							53	51	52					8																	52387699		1910	4132	6042	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387699C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.527G>A	8.37:g.52387699C>T	ENSP00000348645:p.Arg176His						p.R176H	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			6	628	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	176					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.527G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090048	0.36855	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.57595	0.39;0.39	4.65	-1.38	0.09027	.	.	.	.	.	T	0.41673	0.1169	N	0.03304	-0.355	0.27013	N	0.964633	D	0.61080	0.989	P	0.59948	0.866	T	0.46359	-0.9197	9	0.59425	D	0.04	.	9.238	0.37477	0.0:0.516:0.0:0.484	.	176	A1KZ92	PXDNL_HUMAN	H	176	ENSP00000348645:R176H;ENSP00000444865:R176H	ENSP00000348645:R176H	R	-	2	0	PXDNL	52550252	0.415000	0.25416	0.003000	0.11579	0.085000	0.17905	1.472000	0.35376	-0.620000	0.05641	-0.145000	0.13849	CGT		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52387699	C	T	52387699	3	4	250	1	0	0	0	0	1	0	0	0	12848	536	19	1	3932	1	PXDNL	8	52387699	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	28188438	52387699	93976323	39	17803											
C8orf38	137682	broad.mit.edu	37	chr8	96047748	96047748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttttggaaaaaaactgtgGaagatatatactgtgacaat	17	12	9	3	0	0	2	0	1	0	1	0	4	0	4	0	2	2	1	0	2	8	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:96047748G>A	ENST00000396124.4	+	3	387	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E70K|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.E30K|NDUFAF6_ENST00000396113.1_Missense_Mutation_p.E30K	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	122					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										AAAAACTGTGGAAGATATATA	0.328																																						uc003yhj.3																			0											c.(364-366)Gaa>Aaa		Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.							62	63	62					8																	96047748		1835	4076	5911	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96047748G>A	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.364G>A	8.37:g.96047748G>A	ENSP00000379430:p.Glu122Lys					NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Missense_Mutation_p.E70K|NDUFAF6_uc003yhk.3_Non-coding_Transcript	p.E122K	NM_152416	NP_689629	Q330K2	CH038_HUMAN			2	387	+			122					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.364G>A	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684139	0.68157	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000519804	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.5	5.5	0.81552	Terpenoid synthase (2);	0.131786	0.49305	U	0.000145	T	0.79828	0.4513	L	0.39147	1.195	0.53688	D	0.999979	B;B;B	0.27166	0.003;0.024;0.17	B;B;B	0.39339	0.027;0.061;0.297	T	0.72516	-0.4269	10	0.13108	T	0.6	-26.9656	13.8572	0.63534	0.0:0.1533:0.8467:0.0	.	122;70;90	Q330K2;Q330K2-2;B4DQ45	CH038_HUMAN;.;.	K	30;30;30;11;70;122;11	ENSP00000428034:E30K;ENSP00000379419:E30K;ENSP00000379417:E30K;ENSP00000429585:E11K;ENSP00000444515:E70K;ENSP00000379430:E122K;ENSP00000430230:E11K	ENSP00000379417:E30K	E	+	1	0	C8orf38	96116924	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.868000	0.75516	2.591000	0.87537	0.591000	0.81541	GAA		0.328	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		A	96047748	G	A	96047748	3	1	250	1	0	0	0	0	1	0	0	0	2424	1175	41	3	374	3	C8orf38	8	96047748	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	43660049	96047748	50316274	40	17804											
PKHD1L1	93035	broad.mit.edu	37	chr8	110454293	110454293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgtctgtgggggacaCagtggcatggcattggcaaa	11	9	15	6	0	1	0	0	0	1	0	1	1	1	1	0	5	0	3	0	5	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:110454293C>A	ENST00000378402.5	+	35	4366	c.4262C>A	c.(4261-4263)aCa>aAa	p.T1421K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1421	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGGGACACAGTGGCATGG	0.418										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4261-4263)aCa>aAa		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							115	117	116					8																	110454293		1866	4106	5972	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110454293C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4262C>A	8.37:g.110454293C>A	ENSP00000367655:p.Thr1421Lys	HNSCC(38;0.096)					p.T1421K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		34	4366	+			1421			IPT/TIG 7.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4262C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910380	0.17833	.	.	ENSG00000205038	ENST00000378402	D	0.85171	-1.95	5.82	1.8	0.24995	Cupredoxin (1);	0.202657	0.42053	D	0.000771	T	0.75265	0.3826	L	0.55834	1.745	0.25344	N	0.98893	B	0.31318	0.319	B	0.26770	0.073	T	0.58312	-0.7658	10	0.15066	T	0.55	.	6.635	0.22877	0.0:0.6393:0.1313:0.2294	.	1421	Q86WI1	PKHL1_HUMAN	K	1421	ENSP00000367655:T1421K	ENSP00000367655:T1421K	T	+	2	0	PKHD1L1	110523469	0.996000	0.38824	0.963000	0.40424	0.380000	0.30137	1.375000	0.34295	0.820000	0.34516	-0.229000	0.12294	ACA		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110454293	C	A	110454293	3	1	250	1	0	0	0	0	1	0	0	0	11972	478	17	5	4400	5	PKHD1L1	8	110454293	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	14406545	110454293	35909729	41	17805											
DEPDC6	64798	broad.mit.edu	37	chr8	120977651	120977651	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatggcatcatccagcatgGtgagcgtattgggcagcttt	8	11	13	9	1	1	1	1	1	0	0	2	1	2	1	1	3	3	6	1	3	1	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:120977651G>T	ENST00000286234.5	+	4	734		c.e4+1		DEPTOR_ENST00000523492.1_Splice_Site	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein						intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATCCAGCATGGTGAGCgtatt	0.507																																						uc003yow.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						c.e4+1		Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.							79	64	69					8																	120977651		2203	4300	6503	SO:0001630	splice_region_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977651G>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.604+1G>T	8.37:g.120977651G>T						DEPTOR_uc011lid.2_Splice_Site_p.V101_splice	p.V202_splice	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN			4	791	+			202			DEP 2.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Splice_Site	SNP	ENST00000286234.5	37	c.604_splice	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834832	0.71373	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6925	0.91588	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPTOR	121046832	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	8.992000	0.93519	2.417000	0.82017	0.561000	0.74099	.		0.507	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	Intron	T	120977651	G	T	120977651	5	4	250	1	0	0	0	0	0	0	1	0	4443	1275	44	5	619	5	DEPDC6	8	120977651	Splice_Site	SNP	G	TCGA-41-5651-01A-01D-1696-08	10523358	120977651	25386371	42	17806											
ADCY8	114	broad.mit.edu	37	chr8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctccaggaaagcttggCgctgggcccggtctgacagg	7	7	16	11	2	2	1	0	1	2	0	3	3	2	2	2	5	1	2	2	5	1	1	rs201905912	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:132002709C>T	ENST00000286355.5	-	2	3132	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_ENST00000377928.3_Missense_Mutation_p.R347H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	347					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522										HNSCC(32;0.087)			C|||	3	0.000599042	0	0.0014	5008	,	,		16887	0		0	False		,,,				2504	0.002					uc003ytd.4																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1039-1041)cGc>cAc		Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.							128	135	132					8																	132002709		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002709C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1040G>A	8.37:g.132002709C>T	ENSP00000286355:p.Arg347His	HNSCC(32;0.087)				ADCY8_uc010mds.3_Missense_Mutation_p.R347H	p.R347H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	1296	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		347						Missense_Mutation	SNP	ENST00000286355.5	37	c.1040G>A	CCDS6363.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	36	5.781788	0.96929	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.83837	-1.77;-1.77	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.80847	2.515	0.50171	D	0.999857	D;D	0.89917	0.999;1.0	D;D	0.83275	0.98;0.996	D	0.91986	0.5599	10	0.72032	D	0.01	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	347;347	E7EVL1;P40145	.;ADCY8_HUMAN	H	347	ENSP00000286355:R347H;ENSP00000367161:R347H	ENSP00000286355:R347H	R	-	2	0	ADCY8	132071891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	CGC		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	132002709	C	T	132002709	3	4	250	1	0	0	0	0	1	0	0	0	300	768	27	1	2783	1	ADCY8	8	132002709	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	11025058	132002709	14361313	43	17807											
ACO1	48	broad.mit.edu	37	chr9	32430435	32430435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagaccttgtagctgttgGagtactatctggaaacagga	11	10	14	6	0	1	1	0	0	1	1	1	5	1	4	1	4	3	4	1	4	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:32430435G>T	ENST00000309951.6	+	14	1727	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	ACO1_ENST00000541043.1_Missense_Mutation_p.G431V|ACO1_ENST00000379923.1_Missense_Mutation_p.G530V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	530					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTAGCTGTTGGAGTACTATCT	0.453																																						uc003zqw.4																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(1588-1590)gGa>gTa		Homo sapiens aconitase 1, soluble (ACO1), mRNA.							151	142	145					9																	32430435		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32430435G>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1589G>T	9.37:g.32430435G>T	ENSP00000309477:p.Gly530Val					ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.4_Missense_Mutation_p.G530V|ACO1_uc003zqy.4_Non-coding_Transcript	p.G530V	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	13	1744	+			530					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1589G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921628	0.92319	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.39056	1.1;1.1;1.1	6.05	6.05	0.98169	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.80764	0.994;0.824	T	0.64084	-0.6490	10	0.87932	D	0	-18.0766	19.3727	0.94495	0.0:0.0:1.0:0.0	.	566;530	Q59FI0;P21399	.;ACOC_HUMAN	V	566;530;530;431	ENSP00000309477:G530V;ENSP00000369255:G530V;ENSP00000438733:G431V	ENSP00000309477:G530V	G	+	2	0	ACO1	32420435	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GGA		0.453	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		T	32430435	G	T	32430435	3	4	250	1	0	0	0	0	1	0	0	0	146	1174	41	5	1639	5	ACO1	9	32430435	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		32430435	108782996	44	17808											
DAPK1	1612	broad.mit.edu	37	chr9	90220082	90220082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacggacgtcatcctgatCttggaactgtgagtgccgcc	9	9	12	11	3	2	3	1	2	1	1	3	5	3	5	3	2	2	0	3	2	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:90220082C>T	ENST00000408954.3	+	3	611	c.276C>T	c.(274-276)atC>atT	p.I92I	DAPK1_ENST00000358077.5_Silent_p.I92I|DAPK1_ENST00000472284.1_Silent_p.I92I|DAPK1_ENST00000491893.1_Silent_p.I92I|DAPK1_ENST00000469640.2_Silent_p.I92I	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCATCCTGATCTTGGAACTGT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.3																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(274-276)atC>atT		Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.							62	62	62					9																	90220082		2194	4298	6492	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90220082C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.276C>T	9.37:g.90220082C>T						DAPK1_uc004ape.3_Silent_p.I92I|DAPK1_uc004apd.3_Silent_p.I92I|DAPK1_uc011ltg.2_Silent_p.I92I|DAPK1_uc011lth.2_5'UTR	p.I92I	NM_004938	NP_004929	P53355	DAPK1_HUMAN			2	414	+			92			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.276C>T	CCDS43842.1																																																																																				0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90220082	C	T	90220082	2	4	250	1	0	0	0	0	0	0	0	1	4235	903	32	3		3	DAPK1	9	90220082	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	57789647	90220082	50993349	45	17809											
SNX30	401548	broad.mit.edu	37	chr9	115580093	115580093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccagcccactcatctcattCccgtaggtagtaagtcacta	10	10	6	15	1	3	0	3	0	1	0	5	0	4	0	3	1	1	3	3	1	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:115580093C>G	ENST00000374232.3	+	3	621	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	153	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATCTCATTCCCGTAGGTAG	0.458																																						uc004bgj.4																			0				large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(457-459)Ccc>Gcc		Homo sapiens sorting nexin family member 30 (SNX30), mRNA.							115	114	114					9																	115580093		1917	4133	6050	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115580093C>G	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.457C>G	9.37:g.115580093C>G	ENSP00000363349:p.Pro153Ala						p.P153A	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			2	605	+			153			PX.			Missense_Mutation	SNP	ENST00000374232.3	37	c.457C>G	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000148158	ENST00000374232	T	0.61980	0.06	5.4	5.4	0.78164	Phox homologous domain (5);	0.107603	0.64402	D	0.000004	D	0.83552	0.5279	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86468	0.1783	10	0.72032	D	0.01	.	19.1299	0.93400	0.0:1.0:0.0:0.0	.	153	Q5VWJ9	SNX30_HUMAN	A	153	ENSP00000363349:P153A	ENSP00000363349:P153A	P	+	1	0	SNX30	114619914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.901000	0.75693	2.687000	0.91594	0.563000	0.77884	CCC		0.458	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			G	115580093	C	G	115580093	3	3	250	1	0	0	0	0	1	0	0	0	14900	855	30	5	467	5	SNX30	9	115580093	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	25360011	115580093	25633338	46	17810											
OR1J1	347168	broad.mit.edu	37	chr9	125239495	125239495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatccacaagtggacaaGgctttgcatatgcccttggt	9	11	12	9	0	0	0	0	0	0	0	1	2	1	2	2	4	2	2	2	4	3	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:125239495G>A	ENST00000259357.2	-	1	740	c.711C>T	c.(709-711)gcC>gcT	p.A237A	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGGACAAGGCTTTGCATA	0.468																																						uc011lyu.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(709-711)gcC>gcT		Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.							143	128	133					9																	125239495		2203	4300	6503	SO:0001819	synonymous_variant	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239495G>A	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.711C>T	9.37:g.125239495G>A						OR1J2_uc004bmj.2_Intron	p.A237A	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN			0	711	-			237					A3KFL8|Q6IF10|Q96R88	Silent	SNP	ENST00000259357.2	37	c.711C>T	CCDS35120.1																																																																																				0.468	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			A	125239495	G	A	125239495	2	1	250	1	0	0	0	0	0	0	0	1	10959	987	35	3		3	OR1J1	9	125239495	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	9659402	125239495	15973936	47	17811											
SDCCAG3	10807	broad.mit.edu	37	chr9	139299619	139299619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgctttcctccttgatcAtttttgcttctaacttccgc	5	18	5	13	2	2	1	1	1	1	0	6	1	5	1	3	0	2	2	3	0	1	7	rs376328321		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:139299619A>G	ENST00000357365.3	-	7	1058	c.929T>C	c.(928-930)aTg>aCg	p.M310T	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.M287T|SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.M237T	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	310						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTCCTTGATCATTTTTGCTTC	0.463																																						uc004chi.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(928-930)aTg>aCg		Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.		A	THR/MET,THR/MET,THR/MET	0,3830		0,0,1915	122	117	118		929,710,860	4.5	0.9	9		118	1,8271		0,1,4135	no	missense,missense,missense	SDCCAG3	NM_001039707.1,NM_001039708.1,NM_006643.3	81,81,81	0,1,6050	GG,GA,AA		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging,possibly-damaging	310/436,237/363,287/413	139299619	1,12101	1915	4136	6051	SO:0001583	missense	10807					cytoplasm		g.chr9:139299619A>G	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.929T>C	9.37:g.139299619A>G	ENSP00000349929:p.Met310Thr					SDCCAG3_uc004chj.3_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.3_Missense_Mutation_p.M237T	p.M310T	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	6	1134	-		Myeloproliferative disorder(178;0.0511)	310					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.929T>C	CCDS43904.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.903|6.903	0.536122|0.536122	0.13188|0.13188	0.0|0.0	1.21E-4|1.21E-4	ENSG00000165689|ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725|ENST00000417512	T;T;T|.	0.77358|.	1.63;-1.09;1.63|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.339800|.	0.32372|.	N|.	0.006194|.	T|.	0.57548|.	0.2061|.	M|M	0.62723|0.62723	1.935|1.935	0.33084|0.33084	D|D	0.537062|0.537062	P;P;P|.	0.49783|.	0.622;0.865;0.928|.	B;P;P|.	0.50896|.	0.217;0.503;0.653|.	T|.	0.67337|.	-0.5696|.	10|.	0.19590|.	T|.	0.45|.	-26.4957|-26.4957	9.279|9.279	0.37716|0.37716	0.8281:0.0:0.0:0.1719|0.8281:0.0:0.0:0.1719	.|.	237;287;310|.	Q96C92-4;Q96C92-2;Q96C92|.	.;.;SDCG3_HUMAN|.	T|R	310;287;237|51	ENSP00000349929:M310T;ENSP00000298537:M287T;ENSP00000360790:M237T|.	ENSP00000298537:M287T|.	M|X	-|-	2|1	0|0	SDCCAG3|SDCCAG3	138419440|138419440	0.996000|0.996000	0.38824|0.38824	0.881000|0.881000	0.34555|0.34555	0.310000|0.310000	0.27922|0.27922	2.030000|2.030000	0.41108|0.41108	1.801000|1.801000	0.52704|0.52704	0.460000|0.460000	0.39030|0.39030	ATG|TGA		0.463	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		G	139299619	A	G	139299619	3	3	250	1	0	0	0	0	1	0	0	0	13958	217	8	4	394	4	SDCCAG3	9	139299619	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	14060124	139299619	1913812	48	17812											
ARMC3	219681	broad.mit.edu	37	chr10	23321938	23321938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaatcttctaccatcgaGctttgcttttcaaggtgtgt	9	15	9	8	1	3	0	1	0	2	0	4	2	3	1	1	2	3	2	1	2	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:23321938G>T	ENST00000298032.5	+	18	2479	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	ARMC3_ENST00000376528.4_Missense_Mutation_p.A536S|ARMC3_ENST00000409983.3_Missense_Mutation_p.A792S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	799						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTACCATCGAGCTTTGCTTTT	0.353																																						uc001irm.4																			0		p.R798*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2395-2397)Gct>Tct		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							119	113	115					10																	23321938		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23321938G>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2395G>T	10.37:g.23321938G>T	ENSP00000298032:p.Ala799Ser					ARMC3_uc010qcv.2_Missense_Mutation_p.A792S|ARMC3_uc010qcw.2_Missense_Mutation_p.A536S	p.A799S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			17	2478	+			799					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2395G>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235717	0.79800	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.78481	-1.18;-1.16;0.2	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.87208	0.6120	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88822	0.3299	10	0.87932	D	0	-4.1524	14.4816	0.67587	0.0711:0.0:0.9289:0.0	.	792;799	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	799;792;536	ENSP00000298032:A799S;ENSP00000386943:A792S;ENSP00000365711:A536S	ENSP00000298032:A799S	A	+	1	0	ARMC3	23361944	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.394000	0.79862	1.433000	0.47394	0.555000	0.69702	GCT		0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		T	23321938	G	T	23321938	3	4	250	1	0	0	0	0	1	0	0	0	952	971	34	5	2461	5	ARMC3	10	23321938	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		23321938	112212809	49	17813											
C10orf119	79892	broad.mit.edu	37	chr10	121600464	121600464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggaaggacatctcttCttgtatatctagaaaagaaa	15	12	8	6	0	3	2	0	0	3	2	4	4	3	4	0	2	0	1	0	2	8	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:121600464C>A	ENST00000360003.3	-	11	1308	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.R378I	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	380					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACATCTCTTCTTGTATATCT	0.328																																						uc001ler.2																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1138-1140)aGa>aTa		Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.							98	99	99					10																	121600464		2202	4299	6501	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121600464C>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1139G>T	10.37:g.121600464C>A	ENSP00000353098:p.Arg380Ile					MCMBP_uc001leq.1_Missense_Mutation_p.R205I|MCMBP_uc001les.1_Missense_Mutation_p.R205I	p.R380I	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN			10	1437	-			380					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1139G>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546322	0.96488	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	6.1	6.1	0.99115	.	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	M	0.90425	3.115	0.80722	D	1	D	0.57899	0.981	P	0.56514	0.8	D	0.85578	0.1238	9	0.66056	D	0.02	-12.9136	20.7146	0.99709	0.0:1.0:0.0:0.0	.	380	Q9BTE3	MCMBP_HUMAN	I	380;378	.	ENSP00000353098:R380I	R	-	2	0	MCMBP	121590454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.226000	0.78060	2.902000	0.99343	0.650000	0.86243	AGA		0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		A	121600464	C	A	121600464	3	1	250	1	0	0	0	0	1	0	0	0	1588	913	32	5	813	5	C10orf119	10	121600464	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	98278526	121600464	13934283	50	17814											
CHRNA10	57053	broad.mit.edu	37	chr11	3690464	3690464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccgccacacaagactGctggggatgcggatggcatc	8	7	14	12	2	1	1	0	0	1	1	2	3	1	3	2	5	2	2	2	5	1	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:3690464G>A	ENST00000250699.2	-	3	395	c.324C>T	c.(322-324)agC>agT	p.S108S	CHRNA10_ENST00000493827.2_5'UTR|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	108					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	ACACAAGACTGCTGGGGATGC	0.567																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(322-324)agC>agT		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						104	80	88					11																	3690464		2201	4298	6499	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3690464G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.324C>T	11.37:g.3690464G>A						CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	p.S108S	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	396	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	108						Silent	SNP	ENST00000250699.2	37	c.324C>T	CCDS7745.1																																																																																				0.567	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			A	3690464	G	A	3690464	2	1	250	1	0	0	0	0	0	0	0	1	3382	1310	46	3		3	CHRNA10	11	3690464	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		3690464	131316052	51	17815											
MICAL2	9645	broad.mit.edu	37	chr11	12241780	12241780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagatgctgctgtgtgcGgagaacgtgaaccaagacaa	14	6	13	8	2	0	4	0	1	0	3	0	6	0	4	1	1	5	2	1	1	4	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:12241780G>A	ENST00000256194.4	+	9	1269	c.981G>A	c.(979-981)gcG>gcA	p.A327A	MICAL2_ENST00000537344.1_Silent_p.A327A|MICAL2_ENST00000342902.5_Silent_p.A327A|MICAL2_ENST00000527546.1_Silent_p.A327A|MICAL2_ENST00000379612.3_Silent_p.A327A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	327	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGCTGTGTGCGGAGAACGTGA	0.527																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(979-981)gcG>gcA		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							160	137	145					11																	12241780		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12241780G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.981G>A	11.37:g.12241780G>A						MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.3_Silent_p.A327A|MICAL2_uc010rci.2_Silent_p.A327A|MICAL2_uc001mkb.3_Silent_p.A327A|MICAL2_uc001mkc.3_Silent_p.A327A|MICAL2_uc001mkd.3_Silent_p.A156A|MICAL2_uc010rcj.2_5'Flank	p.A327A	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	8	1269	+			327					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.981G>A	CCDS7809.1																																																																																				0.527	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12241780	G	A	12241780	2	1	250	1	0	0	0	0	0	0	0	1	9570	1103	39	2		2	MICAL2	11	12241780	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	8551316	12241780	122764736	52	17816											
PYGM	5837	broad.mit.edu	37	chr11	64514249	64514249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaggtggctatgttcCggatcaccatccgcgtccac	7	9	11	14	3	1	1	1	0	0	1	4	2	4	2	5	3	1	2	5	3	1	2	rs372295369		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:64514249C>T	ENST00000164139.3	-	20	2809	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000394432.3_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R716Q|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377486.3_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	804					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCTATGTTCCGGATCACCAT	0.607																																						uc001oax.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2410-2412)cGg>cAg		Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	Pyridoxal Phosphate(DB00114)	C	GLN/ARG,GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	120	113	115		2147,2411	3.4	1	11		115	0,8594		0,0,4297	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	43,43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	716/755,804/843	64514249	1,12995	2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514249C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2411G>A	11.37:g.64514249C>T	ENSP00000164139:p.Arg804Gln					RASGRP2_uc009ypu.3_5'Flank|RASGRP2_uc009ypv.3_5'Flank|RASGRP2_uc009ypw.3_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.4_Missense_Mutation_p.R716Q	p.R804Q	NM_005609	NP_005600	P11217	PYGM_HUMAN			19	3228	-			804					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.2411G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898089	0.52227	2.27E-4	0.0	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93247	-3.07;-3.19	4.32	3.38	0.38709	.	0.000000	0.42682	D	0.000664	D	0.87970	0.6312	L	0.45352	1.415	0.35416	D	0.792872	B;B	0.23377	0.084;0.018	B;B	0.15484	0.013;0.008	D	0.87203	0.2242	10	0.52906	T	0.07	-22.8757	6.9564	0.24574	0.0:0.7931:0.0:0.2069	.	716;804	A6NDY6;P11217	.;PYGM_HUMAN	Q	716;804;785	ENSP00000366650:R716Q;ENSP00000164139:R804Q	ENSP00000164139:R804Q	R	-	2	0	PYGM	64270825	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	0.466000	0.22019	2.256000	0.74724	0.407000	0.27541	CGG		0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		T	64514249	C	T	64514249	3	4	250	1	0	0	0	0	1	0	0	0	12862	652	23	2	121	2	PYGM	11	64514249	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	52272469	64514249	70492267	53	17817											
PDGFD	80310	broad.mit.edu	37	chr11	103780460	103780460	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagatacaatcacatcGttcatggtgatccaactgga	12	10	9	10	1	2	2	2	1	0	1	4	3	3	3	1	2	3	3	1	2	3	2	rs185084946		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:103780460G>A	ENST00000393158.2	-	7	1254	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PDGFD_ENST00000302251.5_Nonsense_Mutation_p.R353*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	359					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAATCACATCGTTCATGGTGA	0.448													G|||	1	0.000199681	0	0.0014	5008	,	,		22174	0		0	False		,,,				2504	0					uc001phq.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(1075-1077)Cga>Tga		Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.							326	264	285					11																	103780460		2202	4299	6501	SO:0001587	stop_gained	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780460G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1075C>T	11.37:g.103780460G>A	ENSP00000376865:p.Arg359*					PDGFD_uc001php.3_Nonsense_Mutation_p.R353*	p.R359*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	6	1447	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	359					A8K9T6|Q9BWV5	Nonsense_Mutation	SNP	ENST00000393158.2	37	c.1075C>T	CCDS41703.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	40	8.188583	0.98696	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	.	.	.	5.91	5.01	0.66863	.	0.123358	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.171	14.8933	0.70625	0.0683:0.0:0.9316:0.0	.	.	.	.	X	359;353	.	ENSP00000302193:R353X	R	-	1	2	PDGFD	103285670	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.343000	0.59348	1.501000	0.48654	0.655000	0.94253	CGA		0.448	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		A	103780460	G	A	103780460	4	1	250	1	0	0	0	0	0	1	0	0	11660	1153	40	1	41	1	PDGFD	11	103780460	Nonsense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39266211	103780460	31226056	54	17818											
NLRX1	79671	broad.mit.edu	37	chr11	119054075	119054075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacccttaatccttggcGcaaggcccagctgctgcgag	7	8	11	15	2	0	0	0	0	0	0	1	1	1	0	4	2	4	3	4	2	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:119054075G>A	ENST00000409109.1	+	10	3442	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000292199.2_Missense_Mutation_p.R952H|PDZD3_ENST00000355547.5_5'Flank|PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000531114.1_5'Flank|PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_Missense_Mutation_p.R952H|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000525131.1_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	952	LRRCT.|Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.R952H(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AATCCTTGGCGCAAGGCCCAG	0.637																																						uc001pvu.3																			1	Substitution - Missense(1)	p.R952H(2)	lung(1)	cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2854-2856)cGc>cAc		Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.							45	47	46					11																	119054075		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119054075G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2855G>A	11.37:g.119054075G>A	ENSP00000387334:p.Arg952His					NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Missense_Mutation_p.R952H|NLRX1_uc001pvx.3_Missense_Mutation_p.R952H|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	p.R952H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	3070	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	952			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2855G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329425	0.81690	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409109	T;T;T	0.73363	-0.74;-0.74;-0.74	5.48	4.56	0.56223	.	0.157867	0.44483	D	0.000453	T	0.79610	0.4475	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.80054	-0.1543	10	0.56958	D	0.05	.	11.302	0.49311	0.1469:0.0:0.8531:0.0	.	952	Q86UT6	NLRX1_HUMAN	H	952	ENSP00000386851:R952H;ENSP00000292199:R952H;ENSP00000387334:R952H	ENSP00000292199:R952H	R	+	2	0	NLRX1	118559285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.073000	0.41519	1.301000	0.44836	0.655000	0.94253	CGC		0.637	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119054075	G	A	119054075	3	1	250	1	0	0	0	0	1	0	0	0	10485	1087	38	1	2889	1	NLRX1	11	119054075	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	15273615	119054075	15952441	55	17819											
ARHGAP32	9743	broad.mit.edu	37	chr11	128910863	128910863	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcactgactggggaactttTtggttaattaactcaacaca	12	13	8	8	0	2	1	2	1	0	0	2	2	2	2	0	3	3	1	0	3	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:128910863T>A	ENST00000310343.9	-	10	962	c.963A>T	c.(961-963)caA>caT	p.Q321H	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.Q247H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	321	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGAACTTTTTGGTTAATTA	0.393																																						uc009zcp.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(961-963)caA>caT		Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.							83	73	76					11																	128910863		1566	3579	5145	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128910863T>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.963A>T	11.37:g.128910863T>A	ENSP00000310561:p.Gln321His					ARHGAP32_uc009zcq.2_Missense_Mutation_p.Q281H|ARHGAP32_uc001qfb.3_Missense_Mutation_p.Q106H	p.Q321H	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN			9	963	-			321			SH3.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.963A>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473984	0.63737	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000356092	T;T	0.29397	1.57;1.57	5.22	0.0178	0.14113	Src homology-3 domain (2);	.	.	.	.	T	0.27384	0.0672	L	0.29908	0.895	0.25971	N	0.98251	P;D;B	0.59357	0.747;0.985;0.182	B;P;B	0.51415	0.396;0.669;0.078	T	0.15178	-1.0446	9	0.87932	D	0	.	5.1638	0.15075	0.0:0.2389:0.1627:0.5985	.	255;321;139	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	H	321;247;255;31	ENSP00000310561:Q321H;ENSP00000432468:Q247H	ENSP00000310561:Q321H	Q	-	3	2	ARHGAP32	128416073	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	0.212000	0.17497	0.049000	0.15920	0.482000	0.46254	CAA		0.393	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	128910863	T	A	128910863	3	1	250	1	0	0	0	0	1	0	0	0	881	1838	64	5	5352	5	ARHGAP32	11	128910863	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	9856788	128910863	6095653	56	17820											
KLRG1	10219	broad.mit.edu	37	chr12	9142272	9142272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccatgttagagttgcctaCggcaacccaagcccagaatg	11	9	9	12	1	0	2	0	0	0	2	1	2	1	2	4	1	4	3	4	1	5	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:9142272C>T	ENST00000266551.4	+	1	56	c.41C>T	c.(40-42)aCg>aTg	p.T14M	KLRG1_ENST00000356986.3_Missense_Mutation_p.T14M|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	14					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GAGTTGCCTACGGCAACCCAA	0.413																																						uc001qvh.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(40-42)aCg>aTg		Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.							96	92	93					12																	9142272		2203	4300	6503	SO:0001583	missense	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9142272C>T	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.41C>T	12.37:g.9142272C>T	ENSP00000266551:p.Thr14Met					KLRG1_uc001qvg.3_Missense_Mutation_p.T14M	p.T14M	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			0	52	+			14					B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37	c.41C>T		.	.	.	.	.	.	.	.	.	.	C	8.486	0.860798	0.17178	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.01272	5.07;5.18	3.9	2.99	0.34606	.	1.340760	0.05255	N	0.514659	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	D;D	0.89917	1.0;1.0	P;D	0.63113	0.818;0.911	T	0.57717	-0.7763	10	0.54805	T	0.06	0.0041	9.1698	0.37074	0.2151:0.7849:0.0:0.0	.	14;14	Q96E93;Q96E93-2	KLRG1_HUMAN;.	M	14	ENSP00000349477:T14M;ENSP00000266551:T14M	ENSP00000266551:T14M	T	+	2	0	KLRG1	9033539	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.239000	0.18023	1.181000	0.42912	0.650000	0.86243	ACG		0.413	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		T	9142272	C	T	9142272	3	4	250	1	0	0	0	0	1	0	0	0	8421	536	19	1	43	1	KLRG1	12	9142272	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		9142272	124709623	57	17821											
KIF5A	3798	broad.mit.edu	37	chr12	57963411	57963411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaggagaagacaaaGgcccagaaggagacgattgc	18	2	15	6	1	0	5	0	0	0	5	0	9	0	5	1	4	1	0	1	4	5	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:57963411G>A	ENST00000455537.2	+	11	1336	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	KIF5A_ENST00000286452.5_Silent_p.K265K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	354					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						agaagacaaaggcccagaagg	0.532																																						uc001sor.1																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1060-1062)aaG>aaA		Homo sapiens kinesin family member 5A (KIF5A), mRNA.							53	57	55					12																	57963411		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963411G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1062G>A	12.37:g.57963411G>A						KIF5A_uc010srr.1_Silent_p.K265K	p.K354K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			10	1270	+			354					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.1062G>A	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57963411	G	A	57963411	2	1	250	1	0	0	0	0	0	0	0	1	8305	991	35	3		3	KIF5A	12	57963411	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	48821139	57963411	75888484	58	17822											
OS9	10956	broad.mit.edu	37	chr12	58109576	58109576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtgcaggtatctctgggGactacatcgatcgcgtggac	8	9	15	9	3	1	0	0	0	1	0	4	3	1	2	0	5	2	2	0	5	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58109576G>A	ENST00000315970.7	+	6	654	c.613G>A	c.(613-615)Gac>Aac	p.D205N	OS9_ENST00000389142.5_Missense_Mutation_p.D205N|OS9_ENST00000552285.1_Missense_Mutation_p.D205N|OS9_ENST00000389146.6_Missense_Mutation_p.D205N|OS9_ENST00000435406.2_Missense_Mutation_p.D153N|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Missense_Mutation_p.D146N|OS9_ENST00000257966.8_Missense_Mutation_p.D205N|OS9_ENST00000413095.2_Intron|OS9_ENST00000551035.1_Missense_Mutation_p.D172N	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	205					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TATCTCTGGGGACTACATCGA	0.542																																						uc001spj.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(613-615)Gac>Aac		Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.							97	93	94					12																	58109576		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58109576G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.613G>A	12.37:g.58109576G>A	ENSP00000318165:p.Asp205Asn					OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.D205N|OS9_uc001spl.3_Missense_Mutation_p.D205N|OS9_uc001spm.3_Missense_Mutation_p.D205N|OS9_uc001spn.3_Missense_Mutation_p.D205N|OS9_uc010sry.2_Missense_Mutation_p.D172N|OS9_uc010srz.2_Missense_Mutation_p.D146N	p.D205N	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		5	820	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		205					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.613G>A	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155681	0.94686	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	6.04	6.04	0.98038	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	L	0.42529	1.33	0.80722	D	1	D;D;P;D;P;P;D	0.89917	1.0;1.0;0.835;1.0;0.745;0.766;0.999	D;D;P;D;P;P;D	0.91635	0.999;0.998;0.876;0.997;0.755;0.755;0.996	T	0.00553	-1.1674	10	0.33141	T	0.24	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	146;172;205;205;205;205;205	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	N	205;205;146;205;172;205;153;145;205	ENSP00000450010:D205N;ENSP00000318165:D205N;ENSP00000407360:D146N;ENSP00000373798:D205N;ENSP00000447866:D172N;ENSP00000257966:D205N;ENSP00000389632:D153N;ENSP00000447719:D145N;ENSP00000373794:D205N	ENSP00000257966:D205N	D	+	1	0	OS9	56395843	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.502000	0.90505	2.873000	0.98535	0.561000	0.74099	GAC		0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		A	58109576	G	A	58109576	3	1	250	1	0	0	0	0	1	0	0	0	11272	1174	41	3	635	3	OS9	12	58109576	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	146165	58109576	75742319	59	17823											
AVIL	10677	broad.mit.edu	37	chr12	58204641	58204641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctctgggccattccattgGatgatgactttcccaaggtc	7	13	9	12	0	1	2	0	2	1	0	5	3	3	3	3	3	0	0	3	3	1	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58204641G>A	ENST00000257861.3	-	5	946	c.516C>T	c.(514-516)atC>atT	p.I172I	AVIL_ENST00000537081.1_Silent_p.I165I	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	172	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATTCCATTGGATGATGACTT	0.502																																						uc001sqj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(514-516)atC>atT		Homo sapiens advillin (AVIL), mRNA.							149	148	148					12																	58204641		2203	4300	6503	SO:0001819	synonymous_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58204641G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.516C>T	12.37:g.58204641G>A						AVIL_uc009zqe.2_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.I149I|JA611266_uc021qzr.1_5'Flank	p.I172I	NM_006576	NP_006567	O75366	AVIL_HUMAN			4	545	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		172			Core (By similarity).		B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	c.516C>T	CCDS8959.1																																																																																				0.502	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		A	58204641	G	A	58204641	2	1	250	1	0	0	0	0	0	0	0	1	1227	1164	41	3		3	AVIL	12	58204641	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	95065	58204641	75647254	60	17824											
LRIG3	121227	broad.mit.edu	37	chr12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G																															ctgctattgtcaatatggcaINSggtccctttgaaacaaaaat																										TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acctgcfs	p.C901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.C841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2698-2703)acctgcfs		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59268350_59268351insG	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2701dupC	12.37:g.59268352_59268352dupG	ENSP00000326759:p.Cys901fs					LRIG3_uc009zqh.3_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.2_Non-coding_Transcript	p.T900fs	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		16	2946_2947	-			900					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.2700_2701insC	CCDS8960.1																																																																																				0.401	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59268351	-	G	59268350	7	5	250	1	0	1	1	0	0	0	0	0	8946	188	7	0	670	0	LRIG3	12	59268350	Frame_Shift_Ins	INS	-	TCGA-41-5651-01A-01D-1696-08	1063709	59268350	74583545	61	17825											
ACIN1	22985	broad.mit.edu	37	chr14	23564497	23564497	+	De_novo_Start_InFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtttccgtctccacatcGttaccaatcaattctttcca	9	15	4	13	2	3	0	1	0	2	0	7	1	5	0	4	0	1	2	4	0	3	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23564497G>A	ENST00000262710.1	-	0	326				C14orf119_ENST00000319074.4_5'UTR|C14orf119_ENST00000554203.1_5'Flank|ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_De_novo_Start_InFrame|ACIN1_ENST00000457657.1_De_novo_Start_InFrame	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1						apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTCCACATCGTTACCAATCA	0.542																																						uc001wit.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37								Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.							78	80	79					14																	23564497		2203	4300	6503			22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23564497G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716		14.37:g.23564497G>A						ACIN1_uc010akg.3_5'UTR|ACIN1_uc010tnj.2_5'UTR|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank		NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	0		-	all_cancers(95;1.36e-05)							B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Translation_Start_Site	SNP	ENST00000262710.1	37		CCDS9587.1																																																																																				0.542	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		A	23564497	G	A	23564497	1	1	250	1	0	1	0	0	0	0	0	0	142	1160	40	1		1	ACIN1	14	23564497	De_novo_Start_InFrame	SNP	G	TCGA-41-5651-01A-01D-1696-08		23564497	83785043	62	17826											
MYH6	4624	broad.mit.edu	37	chr14	23857466	23857466	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgtagccggtgcttGgtcttctccagtgaggagca	6	13	12	10	1	4	1	1	1	3	0	5	2	4	2	2	3	3	3	2	3	1	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23857466G>C	ENST00000356287.3	-	29	4286	c.4257C>G	c.(4255-4257)acC>acG	p.T1419T	MYH6_ENST00000405093.3_Silent_p.T1419T|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1419					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGGTGCTTGGTCTTCTCCA	0.572																																						uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4255-4257)acC>acG		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.							139	133	135					14																	23857466		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23857466G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4257C>G	14.37:g.23857466G>C							p.T1419T	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	29	4328	-	all_cancers(95;2.54e-05)		1419					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4257C>G	CCDS9600.1																																																																																				0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			C	23857466	G	C	23857466	2	2	250	1	0	0	0	0	0	0	0	1	10038	1335	47	5		5	MYH6	14	23857466	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	292969	23857466	83492074	63	17827											
KCNH5	27133	broad.mit.edu	37	chr14	63468087	63468087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattggctgtttgaacaacGtaatatccttgaaagtacac	13	13	7	8	1	0	2	0	2	0	0	1	2	1	2	1	1	3	4	1	1	7	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:63468087G>A	ENST00000322893.7	-	4	663	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KCNH5_ENST00000394964.2_Missense_Mutation_p.T74M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T74M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T132M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	132	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTGAACAACGTAATATCCTT	0.343																																						uc001xfx.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(394-396)aCg>aTg		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							113	101	105					14																	63468087		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63468087G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.395C>T	14.37:g.63468087G>A	ENSP00000321427:p.Thr132Met					KCNH5_uc001xfy.3_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.3_Missense_Mutation_p.T74M	p.T132M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	3	446	-			132			PAC.		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.395C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765009	0.90020	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	5.64	5.64	0.86602	PAS-associated, C-terminal (1);PAS (1);	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.996;0.999	D	0.97189	0.9856	10	0.87932	D	0	.	19.7059	0.96071	0.0:0.0:1.0:0.0	.	74;74;132;132	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	M	132;132;74;74	ENSP00000321427:T132M;ENSP00000395439:T132M;ENSP00000378419:T74M;ENSP00000378415:T74M	ENSP00000321427:T132M	T	-	2	0	KCNH5	62537840	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	9.869000	0.99810	2.673000	0.90976	0.591000	0.81541	ACG		0.343	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		A	63468087	G	A	63468087	3	1	250	1	0	0	0	0	1	0	0	0	8035	1145	40	1	2637	1	KCNH5	14	63468087	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39610621	63468087	43881453	64	17828											
LTBP2	4053	broad.mit.edu	37	chr14	74971518	74971518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgtccaggctccttcCacaggaatgtagccttttcc	9	10	7	15	1	0	0	0	0	0	0	4	1	4	1	6	2	2	2	6	2	3	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:74971518C>T	ENST00000261978.4	-	30	4802	c.4416G>A	c.(4414-4416)gtG>gtA	p.V1472V	LTBP2_ENST00000556690.1_Silent_p.V1428V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1472					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCTCCTTCCACAGGAATGT	0.562																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4414-4416)gtG>gtA		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							117	103	107					14																	74971518		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971518C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4416G>A	14.37:g.74971518C>T							p.V1472V	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	29	4803	-			1472					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.4416G>A	CCDS9831.1																																																																																				0.562	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	74971518	C	T	74971518	2	4	250	1	0	0	0	0	0	0	0	1	9074	581	21	3		3	LTBP2	14	74971518	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	11503431	74971518	32378022	65	17829											
STON2	85439	broad.mit.edu	37	chr14	81744722	81744722	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcaggaaagggttggtTgccctccaaggtgaagcctc	9	10	12	10	0	2	1	2	1	0	0	4	2	3	2	3	4	2	2	3	4	3	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:81744722T>G	ENST00000267540.2	-	4	1133	c.933A>C	c.(931-933)gcA>gcC	p.A311A	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.A311A	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	311					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAGGGTTGGTTGCCCTCCAAG	0.498																																						uc010tvu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(931-933)gcA>gcC		Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.							93	96	95					14																	81744722		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744722T>G	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.933A>C	14.37:g.81744722T>G						STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.2_Silent_p.A108A	p.A311A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	3	1131	-			311					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.933A>C	CCDS9875.1																																																																																				0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		G	81744722	T	G	81744722	2	3	250	1	0	0	0	0	0	0	0	1	15317	1799	63	5		5	STON2	14	81744722	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	6773204	81744722	25604818	66	17830											
KIAA1409	57578	broad.mit.edu	37	chr14	94069684	94069684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgccagaagagtgtacGttccctgagggacagcgtga	12	6	13	10	3	0	4	0	2	0	2	1	5	1	5	3	1	3	2	3	1	3	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94069684G>A	ENST00000393151.2	+	26	3674	c.3674G>A	c.(3673-3675)cGt>cAt	p.R1225H	UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H|UNC79_ENST00000553484.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1225					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAGTGTACGTTCCCTGAGG	0.527																																						uc001ybv.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3142-3144)cGt>cAt		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							143	125	131					14																	94069684		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94069684G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3674G>A	14.37:g.94069684G>A	ENSP00000376858:p.Arg1225His					UNC79_uc001ybs.1_Missense_Mutation_p.R1048H	p.R1048H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			22	3226	+			1225					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3143G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771943	0.90108	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.22945	1.96;1.93;2.02;1.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.42245	1.32	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	T	0.30001	-0.9993	10	0.66056	D	0.02	-17.3788	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1225	C9JQL1	.	H	1048;1225;1225;1225;1225	ENSP00000256339:R1048H;ENSP00000450868:R1225H;ENSP00000451360:R1225H;ENSP00000376858:R1225H	ENSP00000256339:R1048H	R	+	2	0	KIAA1409	93139437	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	CGT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	94069684	G	A	94069684	3	1	250	1	0	0	0	0	1	0	0	0	8230	1145	40	1	3233	1	KIAA1409	14	94069684	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	12324962	94069684	13279856	67	17831											
SERPINA12	145264	broad.mit.edu	37	chr14	94953697	94953697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacggaaggtattttctcGctgtaaatcagcagcagata	13	10	10	8	2	2	1	1	0	1	1	3	2	2	2	0	2	3	6	0	2	5	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94953697G>A	ENST00000341228.2	-	6	1983	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	SERPINA12_ENST00000556881.1_Silent_p.S396S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	396					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTATTTTCTCGCTGTAAATCA	0.527																																						uc001ydj.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1186-1188)agC>agT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.							131	111	118					14																	94953697		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94953697G>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1188C>T	14.37:g.94953697G>A							p.S396S	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	5	1984	-			396						Silent	SNP	ENST00000341228.2	37	c.1188C>T	CCDS9926.1																																																																																				0.527	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		A	94953697	G	A	94953697	2	1	250	1	0	0	0	0	0	0	0	1	14089	1078	38	1		1	SERPINA12	14	94953697	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	884013	94953697	12395843	68	17832											
AHNAK2	113146	broad.mit.edu	37	chr14	105411658	105411658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcacgtggccctccGggagcttcacgtccacctgg	4	7	13	17	4	1	0	1	0	0	0	4	1	3	1	5	4	1	2	5	4	0	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:105411658G>A	ENST00000333244.5	-	7	10249	c.10130C>T	c.(10129-10131)cCg>cTg	p.P3377L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3377						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGGCCCTCCGGGAGCTTCAC	0.637																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10129-10131)cCg>cTg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							118	129	125					14																	105411658		1928	4129	6057	SO:0001583	missense	113146					nucleus		g.chr14:105411658G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10130C>T	14.37:g.105411658G>A	ENSP00000353114:p.Pro3377Leu					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	p.P3377L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	10250	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3377					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10130C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.938	1.216568	0.22373	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	4.12	2.24	0.28232	.	.	.	.	.	T	0.07188	0.0182	M	0.94101	3.495	0.09310	N	1	P	0.36249	0.545	B	0.29267	0.1	T	0.34477	-0.9827	9	0.15066	T	0.55	.	6.3094	0.21156	0.1879:0.166:0.6461:0.0	.	3377	Q8IVF2	AHNK2_HUMAN	L	3377	ENSP00000353114:P3377L	ENSP00000353114:P3377L	P	-	2	0	AHNAK2	104482703	0.011000	0.17503	0.012000	0.15200	0.001000	0.01503	-0.714000	0.05002	0.967000	0.38186	-0.339000	0.08088	CCG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105411658	G	A	105411658	3	1	250	1	0	0	0	0	1	0	0	0	415	1116	39	2	7261	2	AHNAK2	14	105411658	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	10457961	105411658	1937882	69	17833											
SHC4	399694	broad.mit.edu	37	chr15	49217141	49217141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcacttcaacacagccCatgtactacaataagaagaa	17	7	6	11	0	1	2	1	0	0	2	1	2	1	2	1	0	6	3	1	0	7	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:49217141C>A	ENST00000332408.4	-	2	1019	c.591G>T	c.(589-591)atG>atT	p.M197I		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	197	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAACACAGCCCATGTACTACA	0.413																																						uc001zxb.1																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(589-591)atG>atT		Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.							97	86	90					15																	49217141		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49217141C>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.591G>T	15.37:g.49217141C>A	ENSP00000329668:p.Met197Ile						p.M197I	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	1020	-		all_lung(180;0.00466)	197			PID.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.591G>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558919	0.45590	.	.	ENSG00000185634	ENST00000332408	T	0.18338	2.22	5.13	4.14	0.48551	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.197535	0.44285	D	0.000475	T	0.16727	0.0402	L	0.48174	1.505	0.80722	D	1	B	0.09022	0.002	B	0.20767	0.031	T	0.02805	-1.1108	10	0.35671	T	0.21	-29.9283	12.7203	0.57137	0.0:0.9075:0.0:0.0925	.	197	Q6S5L8	SHC4_HUMAN	I	197	ENSP00000329668:M197I	ENSP00000329668:M197I	M	-	3	0	SHC4	47004433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.215000	0.51169	2.656000	0.90262	0.655000	0.94253	ATG		0.413	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		A	49217141	C	A	49217141	3	1	250	1	0	0	0	0	1	0	0	0	14273	594	21	5	1345	5	SHC4	15	49217141	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		49217141	53314251	70	17834											
MYO5C	55930	broad.mit.edu	37	chr15	52537563	52537563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgacctggatgagtctGtgtaaaaccaccttgcacac	13	9	8	11	0	1	2	0	2	1	0	1	3	1	3	3	1	3	2	3	1	3	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:52537563G>A	ENST00000261839.7	-	18	2327	c.2166C>T	c.(2164-2166)caC>caT	p.H722H	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	722	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATGAGTCTGTGTAAAACCA	0.483																																						uc010bff.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2164-2166)caC>caT		Homo sapiens myosin VC (MYO5C), mRNA.							175	180	179					15																	52537563		2013	4167	6180	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52537563G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2166C>T	15.37:g.52537563G>A						MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	p.H722H	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	17	2328	-			722			Myosin head-like.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2166C>T	CCDS42036.1																																																																																				0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52537563	G	A	52537563	2	1	250	1	0	0	0	0	0	0	0	1	10080	1368	48	3		3	MYO5C	15	52537563	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	3320422	52537563	49993829	71	17835											
CD276	80381	broad.mit.edu	37	chr15	73994767	73994767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgctgagggccaggAccagggcagcgcctatgcca	8	6	14	13	1	0	1	0	1	0	0	0	2	0	2	4	3	4	3	4	3	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:73994767A>G	ENST00000318443.5	+	3	553	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CD276_ENST00000318424.5_Missense_Mutation_p.D84G|CD276_ENST00000564751.1_Missense_Mutation_p.D84G|CD276_ENST00000561213.1_Missense_Mutation_p.D84G|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	84	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GAGGGCCAGGACCAGGGCAGC	0.647																																						uc002avv.1																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(250-252)gAc>gGc		Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.							56	47	50					15																	73994767		2198	4297	6495	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73994767A>G	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.251A>G	15.37:g.73994767A>G	ENSP00000320084:p.Asp84Gly					CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G	p.D84G	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN			2	485	+			84			Ig-like V-type 1.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.251A>G	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787214	0.49997	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	T;T	0.02606	4.23;4.23	2.84	2.84	0.33178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10766	0.0263	L	0.58810	1.83	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;P;D;D	0.87578	0.992;0.814;0.998;0.996	T	0.02553	-1.1142	9	0.59425	D	0.04	-5.1596	11.5181	0.50534	1.0:0.0:0.0:0.0	.	30;84;84;84	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	G	84	ENSP00000320058:D84G;ENSP00000320084:D84G	ENSP00000320058:D84G	D	+	2	0	CD276	71781820	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	6.535000	0.73838	1.537000	0.49254	0.260000	0.18958	GAC		0.647	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		G	73994767	A	G	73994767	3	3	250	1	0	0	0	0	1	0	0	0	2992	275	10	4	257	4	CD276	15	73994767	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	21457204	73994767	28536625	72	17836											
CIITA	4261	broad.mit.edu	37	chr16	11004047	11004047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctgttctctccaggaCgagaagttcctcggaagaca	10	10	10	11	2	1	2	0	0	1	2	5	5	3	4	3	2	1	2	3	2	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:11004047C>T	ENST00000324288.8	+	13	2952	c.2819C>T	c.(2818-2820)aCg>aTg	p.T940M	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.T356M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	940			Missing (in BLS2). {ECO:0000269|PubMed:8402893}.		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCTCCAGGACGAGAAGTTCC	0.572			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	uc002daj.4				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2821-2823)aCg>aTg		Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.							68	53	58					16																	11004047		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11004047C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2819C>T	16.37:g.11004047C>T	ENSP00000316328:p.Thr940Met					CIITA_uc002dai.4_Missense_Mutation_p.T940M|CIITA_uc002dak.4_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	p.T941M	NM_000246	NP_000237	P33076	C2TA_HUMAN			12	2955	+			940		Missing (in BLS2).			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2822C>T	CCDS10544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.39|12.39	1.923097|1.923097	0.33908|0.33908	.|.	.|.	ENSG00000179583|ENSG00000179583	ENST00000537380|ENST00000324288;ENST00000381835	.|T;T	.|0.73152	.|-0.72;1.63	5.05|5.05	1.45|1.45	0.22620|0.22620	.|.	.|1.214130	.|0.06229	.|N	.|0.688335	.|T	.|0.56016	.|0.1957	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.41313	.|0.745;0.602;0.452	.|B;B;B	.|0.29942	.|0.109;0.075;0.032	.|T	.|0.51934	.|-0.8642	.|10	0.02654|0.56958	T|D	1|0.05	.|.	3.0651|3.0651	0.06212|0.06212	0.0:0.4376:0.2261:0.3363|0.0:0.4376:0.2261:0.3363	.|.	.|356;940;940	.|E9PFE0;A0N0N9;P33076	.|.;.;C2TA_HUMAN	X|M	337|940;356	.|ENSP00000316328:T940M;ENSP00000371257:T356M	ENSP00000446228:R337X|ENSP00000316328:T940M	R|T	+|+	1|2	2|0	CIITA|CIITA	10911548|10911548	0.167000|0.167000	0.22975|0.22975	0.034000|0.034000	0.17996|0.17996	0.515000|0.515000	0.34225|0.34225	0.756000|0.756000	0.26419|0.26419	0.454000|0.454000	0.26884|0.26884	-0.258000|-0.258000	0.10820|0.10820	CGA|ACG		0.572	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		T	11004047	C	T	11004047	3	4	250	1	0	0	0	0	1	0	0	0	3428	536	19	1	2869	1	CIITA	16	11004047	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		11004047	79350706	73	17837											
IL4R	3566	broad.mit.edu	37	chr16	27373866	27373866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagggatgacttccaggaggGaagggagggcattgtggccc	9	6	18	8	0	0	1	0	1	0	0	1	5	1	5	2	6	0	1	2	6	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:27373866G>C	ENST00000395762.2	+	11	1452	c.1193G>C	c.(1192-1194)gGa>gCa	p.G398A	IL4R_ENST00000170630.2_Missense_Mutation_p.G398A|IL4R_ENST00000543915.2_Missense_Mutation_p.G398A|IL4R_ENST00000380922.3_Missense_Mutation_p.G383A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	398					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCCAGGAGGGAAGGGAGGGC	0.597																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1192-1194)gGa>gCa		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							67	69	68					16																	27373866		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373866G>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1193G>C	16.37:g.27373866G>C	ENSP00000379111:p.Gly398Ala					IL4R_uc002dop.4_Missense_Mutation_p.G383A|IL4R_uc010bxy.3_Missense_Mutation_p.G398A|IL4R_uc002doo.3_Missense_Mutation_p.G238A	p.G398A	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	1435	+			398					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1193G>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290715	0.40494	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.42	3.19	0.36642	.	3.982570	0.00575	N	0.000307	T	0.21801	0.0525	L	0.57536	1.79	0.09310	N	1	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.53313	0.723;0.723;0.723	T	0.07195	-1.0785	10	0.66056	D	0.02	-29.2701	3.6213	0.08097	0.1439:0.0:0.6085:0.2476	.	383;398;398	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	398;398;383;398	ENSP00000379111:G398A;ENSP00000441667:G398A;ENSP00000370309:G383A;ENSP00000170630:G398A	ENSP00000170630:G398A	G	+	2	0	IL4R	27281367	0.962000	0.33011	0.119000	0.21687	0.204000	0.24138	1.901000	0.39838	1.237000	0.43756	0.655000	0.94253	GGA		0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			C	27373866	G	C	27373866	3	2	250	1	0	0	0	0	1	0	0	0	7698	1174	41	5	1245	5	IL4R	16	27373866	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	16369819	27373866	62980887	74	17838											
ELMO3	1874	broad.mit.edu	37	chr16	67235531	67235531	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcgcatgcggacgcccctgGacccctacagccaggtgtgt	6	6	13	16	4	0	0	0	0	0	0	0	2	0	2	5	3	3	1	5	3	1	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67235531G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Missense_Mutation_p.D338N|ELMO3_ENST00000477898.1_Missense_Mutation_p.D189N|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Missense_Mutation_p.D355N	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GACGCCCCTGGACCCCTACAG	0.612																																						uc002esa.3																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(1063-1065)Gac>Aac		Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.							42	48	46					16																	67235531		2050	4209	6259	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67235531G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235531G>A						ELMO3_uc002esb.3_Missense_Mutation_p.D338N|ELMO3_uc002esc.3_Missense_Mutation_p.D189N	p.D355N	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	9	1106	+		Ovarian(137;0.0563)	302			ELMO.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1063G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391009	0.62066	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.34072	1.38;1.38	5.31	5.31	0.75309	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.48592	-0.9022	10	0.31617	T	0.26	-26.8066	17.5558	0.87889	0.0:0.0:1.0:0.0	.	302;338;355	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	338;355	ENSP00000354077:D338N;ENSP00000377566:D355N	ENSP00000354077:D338N	D	+	1	0	ELMO3	65793032	1.000000	0.71417	0.996000	0.52242	0.063000	0.16089	9.824000	0.99380	2.484000	0.83849	0.561000	0.74099	GAC		0.612	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		A	67235531	G	A	67235531	1	1	250	0	1	0	0	0	0	0	0	0	5067	1174	41	3		3	ELMO3	16	67235531	IGR	SNP	G	TCGA-41-5651-01A-01D-1696-08	39861665	67235531	23119222	75	17839											
RLTPR	146206	broad.mit.edu	37	chr16	67681849	67681849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcgctgggggcctcCgaggacagtggggtgagtgg	4	6	22	9	2	0	1	0	1	0	0	1	3	1	2	3	8	0	1	3	8	0	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67681849C>T	ENST00000334583.6	+	13	1387	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RLTPR_ENST00000545661.1_Silent_p.S353S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	353					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGCCTCCGAGGACAGTG	0.662																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1057-1059)tcC>tcT		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							22	26	24					16																	67681849		1932	4127	6059	SO:0001819	synonymous_variant	146206							g.chr16:67681849C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1059C>T	16.37:g.67681849C>T						RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.2_Silent_p.S353S	p.S353S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	12	1179	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	353					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1059C>T	CCDS45513.1																																																																																				0.662	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67681849	C	T	67681849	2	4	250	1	0	0	0	0	0	0	0	1	13394	639	23	2		2	RLTPR	16	67681849	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	446318	67681849	22672904	76	17840											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							42	42	42					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578555	C	T	7578555	5	4	250	1	0	0	0	0	0	0	1	0	16378	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-41-5651-01A-01D-1696-08		7578555	73616655	77	17841											
C17orf46	124783	broad.mit.edu	37	chr17	43332647	43332647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggtgctctggcttcgCgtggtttctctggcagggtc	2	14	15	10	2	3	0	1	0	2	0	6	0	3	0	0	5	1	4	0	5	0	2	rs144271763		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:43332647C>T	ENST00000331780.4	-	4	997	c.902G>A	c.(901-903)cGc>cAc	p.R301H	MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.R280H|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	301					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TCTGGCTTCGCGTGGTTTCTC	0.567													C|||	1	0.000199681	0	0	5008	,	,		21835	0		0	False		,,,				2504	0.001					uc002iis.1																			0											c.(901-903)cGc>cAc		Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	177	160	166		902	-8.3	0	17	dbSNP_134	166	0,8600		0,0,4300	no	missense	C17orf46	NM_152343.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	301/385	43332647	1,13005	2203	4300	6503	SO:0001583	missense	124783							g.chr17:43332647C>T	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.902G>A	17.37:g.43332647C>T	ENSP00000331532:p.Arg301His					LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.R280H	p.R301H	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			3	998	-			301					Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.902G>A	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688891	0.29962	2.27E-4	0.0	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.42513	0.97;0.97	4.17	-8.33	0.00992	.	6.284330	0.00447	N	0.000097	T	0.25827	0.0629	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11743	-1.0575	10	0.41790	T	0.15	-11.7678	3.3627	0.07193	0.268:0.4596:0.1055:0.167	.	301	Q96LK8	CQ046_HUMAN	H	301;280	ENSP00000331532:R301H;ENSP00000442724:R280H	ENSP00000331532:R301H	R	-	2	0	C17orf46	40688430	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.677000	0.05215	-3.233000	0.00209	-2.174000	0.00321	CGC		0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		T	43332647	C	T	43332647	3	4	250	1	0	0	0	0	1	0	0	0	1857	768	27	1	260	1	C17orf46	17	43332647	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	35754092	43332647	37862563	78	17842											
SCN4A	6329	broad.mit.edu	37	chr17	62034852	62034852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgttcagcgttggccaCgacttggccagcttgaagac	9	9	12	11	2	1	2	1	1	0	1	1	3	1	2	2	2	3	4	2	2	1	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:62034852C>T	ENST00000435607.1	-	13	2122	c.2046G>A	c.(2044-2046)tcG>tcA	p.S682S	SCN4A_ENST00000578147.1_Silent_p.S682S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	682					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCGTTGGCCACGACTTGGCCA	0.592																																						uc002jds.1																			0		p.S682L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2044-2046)tcG>tcA		Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	Lamotrigine(DB00555)						70	79	76					17																	62034852		2158	4255	6413	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62034852C>T	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2046G>A	17.37:g.62034852C>T							p.S682S	NM_000334	NP_000325	P35499	SCN4A_HUMAN			12	2123	-			682					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.2046G>A	CCDS45761.1																																																																																				0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62034852	C	T	62034852	2	4	250	1	0	0	0	0	0	0	0	1	13920	523	19	1		1	SCN4A	17	62034852	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	18702205	62034852	19160358	79	17843											
EVPL	2125	broad.mit.edu	37	chr17	74011625	74011625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcagcggggcccaCgggccgcgtggacagaaacg	8	2	18	13	5	0	1	0	0	0	1	0	2	0	2	2	5	3	2	2	5	1	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:74011625C>T	ENST00000301607.3	-	15	2048	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M	EVPL_ENST00000586740.1_Missense_Mutation_p.V621M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	599	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGGGGCCCACGGGCCGCGTG	0.647																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1861-1863)Gtg>Atg		Homo sapiens envoplakin (EVPL), mRNA.							62	56	58					17																	74011625		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011625C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1795G>A	17.37:g.74011625C>T	ENSP00000301607:p.Val599Met					EVPL_uc002jqi.2_Missense_Mutation_p.V599M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	p.V621M	NM_001988	NP_001979	Q92817	EVPL_HUMAN			14	2089	-			599			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1861G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319147	0.23994	.	.	ENSG00000167880	ENST00000301607	T	0.63255	-0.03	5.15	-1.02	0.10135	.	1.557430	0.03542	N	0.224101	T	0.51483	0.1677	L	0.44542	1.39	0.09310	N	1	B;B	0.19817	0.039;0.025	B;B	0.11329	0.006;0.006	T	0.36792	-0.9733	10	0.46703	T	0.11	-3.1389	4.3546	0.11172	0.3403:0.3662:0.0:0.2934	.	621;599	B7ZLH8;Q92817	.;EVPL_HUMAN	M	599	ENSP00000301607:V599M	ENSP00000301607:V599M	V	-	1	0	EVPL	71523220	0.000000	0.05858	0.002000	0.10522	0.549000	0.35272	-0.471000	0.06631	0.143000	0.18926	0.455000	0.32223	GTG		0.647	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		T	74011625	C	T	74011625	3	4	250	1	0	0	0	0	1	0	0	0	5292	536	19	1	4338	1	EVPL	17	74011625	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	11976773	74011625	7183585	80	17844											
SLC14A2	8170	broad.mit.edu	37	chr18	43262345	43262345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccttcctgctcctgaCgaccaataaccccgccatct	8	10	4	19	2	2	1	1	1	2	0	5	2	4	1	7	0	2	1	7	0	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr18:43262345C>T	ENST00000255226.6	+	20	3440	c.2624C>T	c.(2623-2625)aCg>aTg	p.T875M	SLC14A2_ENST00000589658.1_Missense_Mutation_p.T352M|SLC14A2_ENST00000586448.1_Missense_Mutation_p.T875M|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	875					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTCCTGACGACCAATAAC	0.547																																						uc002lbe.3																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2623-2625)aCg>aTg		Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.							294	283	287					18																	43262345		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43262345C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2624C>T	18.37:g.43262345C>T	ENSP00000255226:p.Thr875Met					SLC14A2_uc010dnj.3_Missense_Mutation_p.T875M	p.T875M	NM_007163	NP_009094	Q15849	UT2_HUMAN			19	3440	+			875					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2624C>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149290	0.78001	.	.	ENSG00000132874	ENST00000255226	T	0.52754	0.65	5.26	4.39	0.52855	.	0.098474	0.44097	D	0.000487	T	0.73249	0.3563	M	0.92649	3.33	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	T	0.80567	-0.1325	10	0.87932	D	0	-8.4037	13.6071	0.62054	0.0:0.9241:0.0:0.0759	.	875	Q15849	UT2_HUMAN	M	875	ENSP00000255226:T875M	ENSP00000255226:T875M	T	+	2	0	SLC14A2	41516343	0.998000	0.40836	0.944000	0.38274	0.993000	0.82548	3.929000	0.56514	1.213000	0.43380	0.561000	0.74099	ACG		0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43262345	C	T	43262345	3	4	250	1	0	0	0	0	1	0	0	0	14397	536	19	1	2698	1	SLC14A2	18	43262345	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		43262345	34814903	81	17845											
MUC16	94025	broad.mit.edu	37	chr19	9033637	9033637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttctctctctgtggcGttgaacttcctggaaccagg	6	13	11	11	1	2	1	0	1	2	0	5	2	3	2	2	3	3	3	2	3	2	3	rs370710119		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:9033637G>A	ENST00000397910.4	-	9	36503	c.36300C>T	c.(36298-36300)aaC>aaT	p.N12100N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12102	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGTGGCGTTGAACTTCC	0.597																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36298-36300)aaC>aaT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		G		1,4231		0,1,2115	114	115	115		36300	0.7	0.3	19		115	0,8426		0,0,4213	no	coding-synonymous	MUC16	NM_024690.2		0,1,6328	AA,AG,GG		0.0,0.0236,0.0079		12100/14508	9033637	1,12657	2116	4213	6329	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033637G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36300C>T	19.37:g.9033637G>A							p.N12100N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			8	36504	-			12102			SEA 1.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36300C>T	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9033637	G	A	9033637	2	1	250	1	0	0	0	0	0	0	0	1	9973	1136	40	1		1	MUC16	19	9033637	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		9033637	50095346	82	17846											
ZNF439	90594	broad.mit.edu	37	chr19	11978931	11978931	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacataagaatgcactcTggagaaagaccttatgaatg	17	8	8	8	0	1	4	0	1	1	3	1	5	1	4	1	1	1	1	1	1	5	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:11978931T>C	ENST00000304030.2	+	3	1247	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	ZNF439_ENST00000455282.1_Silent_p.S213S|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAATGCACTCTGGAGAAAGAC	0.373																																						uc002mss.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(1045-1047)tcT>tcC		Homo sapiens zinc finger protein 439 (ZNF439), mRNA.							87	88	88					19																	11978931		2203	4300	6503	SO:0001819	synonymous_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978931T>C	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1047T>C	19.37:g.11978931T>C						ZNF439_uc002msr.3_Silent_p.S213S	p.S349S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			2	1175	+			349					Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.1047T>C	CCDS12268.1																																																																																				0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			C	11978931	T	C	11978931	2	2	250	1	0	0	0	0	0	0	0	1	17908	1567	55	4		4	ZNF439	19	11978931	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	2945294	11978931	47150052	83	17847											
SLC1A6	6511	broad.mit.edu	37	chr19	15083572	15083572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtttcggcgcaggaagcGcagcacgtgctcgagggtca	7	6	17	11	6	1	0	1	0	0	0	3	2	1	1	0	4	3	5	0	4	1	1	rs558935555		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:15083572G>A	ENST00000221742.3	-	1	158	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R51C|SLC1A6_ENST00000430939.2_Missense_Mutation_p.A55V|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R51C|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R51C	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	51					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CGCAGGAAGCGCAGCACGTGC	0.677													G|||	1	0.000199681	0	0	5008	,	,		18600	0		0	False		,,,				2504	0.001					uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(151-153)Cgc>Tgc		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						29	29	29					19																	15083572		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083572G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.151C>T	19.37:g.15083572G>A	ENSP00000221742:p.Arg51Cys					SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.3_Missense_Mutation_p.R51C|SLC1A6_uc002nac.3_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	p.R51C	NM_005071	NP_005062	P48664	EAA4_HUMAN			0	158	-			51					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.151C>T	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.635153|2.635153	0.47049|0.47049	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.74209|0.56776	-0.82|0.44;1.17	4.46|4.46	3.36|3.36	0.38483|0.38483	.|.	.|0.305931	.|0.32868	.|N	.|0.005549	T|T	0.44705|0.44705	0.1306|0.1306	N|N	0.19112|0.19112	0.55|0.55	0.34432|0.34432	D|D	0.698647|0.698647	P|D;D;D	0.42692|0.64830	0.787|0.989;0.989;0.994	B|P;P;P	0.30251|0.51657	0.113|0.613;0.613;0.676	T|T	0.59327|0.59327	-0.7475|-0.7475	9|10	0.87932|0.66056	D|D	0|0.02	-17.8233|-17.8233	9.6915|9.6915	0.40131|0.40131	0.0:0.0:0.794:0.206|0.0:0.0:0.794:0.206	.|.	55|51;52;51	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	V|C	55|51;51;52	ENSP00000409386:A55V|ENSP00000221742:R51C;ENSP00000446175:R51C	ENSP00000409386:A55V|ENSP00000221742:R51C	A|R	-|-	2|1	0|0	SLC1A6|SLC1A6	14944572|14944572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.311000|0.311000	0.27955|0.27955	1.675000|1.675000	0.37555|0.37555	2.306000|2.306000	0.77630|0.77630	0.313000|0.313000	0.20887|0.20887	GCG|CGC		0.677	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15083572	G	A	15083572	3	1	250	1	0	0	0	0	1	0	0	0	14436	1087	38	1	1579	1	SLC1A6	19	15083572	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	3104641	15083572	44045411	84	17848											
CYP2A13	1553	broad.mit.edu	37	chr19	41597756	41597756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcacaaccagcgcacGctggatcccaattccccacg	10	5	10	16	3	0	0	0	0	0	0	2	2	2	2	4	2	3	3	4	2	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:41597756G>A	ENST00000330436.3	+	5	774	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	258					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T258T(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACCAGCGCACGCTGGATCCCA	0.587																																						uc002opt.3																			1	Substitution - coding silent(1)	p.T258T(2)|p.R257C(1)	lung(1)	breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(772-774)acG>acA		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						166	127	140					19																	41597756		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597756G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.774G>A	19.37:g.41597756G>A							p.T258T	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			4	783	+			258					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.774G>A	CCDS12571.1																																																																																				0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		A	41597756	G	A	41597756	2	1	250	1	0	0	0	0	0	0	0	1	4161	1074	38	1		1	CYP2A13	19	41597756	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	26514184	41597756	17531227	85	17849											
ATP1A3	478	broad.mit.edu	37	chr19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctcaatctcgatggCgatgggcgtcttgcccacct	7	10	12	12	3	3	0	1	0	2	0	4	3	3	0	2	2	2	1	2	2	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:42489240C>T	ENST00000302102.5	-	8	973	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000545399.1_Missense_Mutation_p.A288T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632																																						uc002osh.3																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(823-825)Gcc>Acc		Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.							121	94	103					19																	42489240		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489240C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.823G>A	19.37:g.42489240C>T	ENSP00000302397:p.Ala275Thr					ATP1A3_uc010xwf.2_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.2_Missense_Mutation_p.A245T|ATP1A3_uc002osg.3_Missense_Mutation_p.A275T|ATP1A3_uc010xwh.2_Missense_Mutation_p.A288T	p.A275T			P13637	AT1A3_HUMAN			7	977	-			275					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.823G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836493	0.91117	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.28	4.28	0.50868	ATPase, P-type, ATPase-associated domain (1);	0.124291	0.53938	D	0.000052	D	0.91250	0.7242	L	0.45137	1.4	0.80722	D	1	P;D;D;D	0.63880	0.942;0.972;0.993;0.977	P;P;D;P	0.65773	0.647;0.782;0.938;0.861	D	0.92120	0.5703	10	0.66056	D	0.02	.	14.613	0.68529	0.0:1.0:0.0:0.0	.	288;286;275;275	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	275;275;288;245;19;286	ENSP00000302397:A275T;ENSP00000411503:A275T;ENSP00000444688:A288T;ENSP00000437577:A286T	ENSP00000302397:A275T	A	-	1	0	ATP1A3	47181080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.982000	0.70532	2.126000	0.65437	0.491000	0.48974	GCC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		T	42489240	C	T	42489240	3	4	250	1	0	0	0	0	1	0	0	0	1130	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	891484	42489240	16639743	86	17850											
ZNF324	25799	broad.mit.edu	37	chr19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcgtcttccctgttgccgGtgcctgccacagtgtaaaaa	8	11	10	12	2	1	0	0	0	1	0	2	0	2	0	4	1	4	2	4	1	4	4	rs200934507		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:58982200G>A	ENST00000536459.2	+	4	1050	c.341G>A	c.(340-342)gGt>gAt	p.G114D	ZNF324_ENST00000196482.3_Missense_Mutation_p.G114D|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G114D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGTTGCCGGTGCCTGCCAC	0.567																																						uc002qsw.2																			1	Substitution - Missense(1)	p.G114D(2)	endometrium(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(340-342)gGt>gAt		Homo sapiens zinc finger protein 324 (ZNF324), mRNA.							89	98	95					19																	58982200		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982200G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.341G>A	19.37:g.58982200G>A	ENSP00000444812:p.Gly114Asp						p.G114D	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	486	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	114					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.341G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	3.699	-0.062018	0.07317	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05199	3.48;3.48	3.29	-0.27	0.12926	.	0.444806	0.16783	N	0.199703	T	0.03915	0.0110	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.46512	-0.9186	10	0.11794	T	0.64	.	5.4243	0.16417	0.1191:0.3997:0.4812:0.0	.	114	O75467	Z324A_HUMAN	D	114;114;114;104	ENSP00000196482:G114D;ENSP00000444812:G114D	ENSP00000196482:G114D	G	+	2	0	ZNF324	63674012	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.427000	0.21379	0.051000	0.15978	0.555000	0.69702	GGT		0.567	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		A	58982200	G	A	58982200	3	1	250	1	0	0	0	0	1	0	0	0	17841	1261	44	3	351	3	ZNF324	19	58982200	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	16492960	58982200	146783	87	17851											
KIF16B	55614	broad.mit.edu	37	chr20	16254013	16254013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgatgtggaggggagatGttgcggactggagcatcacg	8	10	18	5	2	1	2	1	1	0	1	1	6	1	5	0	5	2	3	0	5	0	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:16254013G>A	ENST00000354981.2	-	26	3996	c.3839C>T	c.(3838-3840)aCa>aTa	p.T1280I	KIF16B_ENST00000355755.3_Missense_Mutation_p.T1250I|KIF16B_ENST00000378003.2_Missense_Mutation_p.T465I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1280	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGGGGAGATGTTGCGGACTG	0.473																																						uc002wpg.2																			0		p.A1279P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3838-3840)aCa>aTa		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							122	114	117					20																	16254013		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16254013G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3839C>T	20.37:g.16254013G>A	ENSP00000347076:p.Thr1280Ile					KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.2_Missense_Mutation_p.T1229I	p.T1280I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			25	3998	-			1280			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3839C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119470	0.56505	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003	T;T;T	0.70869	-0.49;-0.52;2.52	5.87	5.87	0.94306	Phox homologous domain (2);	.	.	.	.	T	0.71178	0.3309	L	0.43152	1.355	0.29595	N	0.848165	P;P	0.50819	0.925;0.939	B;P	0.46629	0.387;0.522	T	0.70292	-0.4912	9	0.52906	T	0.07	.	18.3987	0.90509	0.0:0.0:1.0:0.0	.	1239;1280	Q96L93-6;Q96L93	.;KI16B_HUMAN	I	1280;1250;1124;465	ENSP00000347076:T1280I;ENSP00000347995:T1250I;ENSP00000367242:T465I	ENSP00000347076:T1280I	T	-	2	0	KIF16B	16202013	0.998000	0.40836	0.747000	0.31113	0.711000	0.40976	4.784000	0.62411	2.785000	0.95823	0.655000	0.94253	ACA		0.473	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16254013	G	A	16254013	3	1	250	1	0	0	0	0	1	0	0	0	8278	1377	48	3	118	3	KIF16B	20	16254013	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		16254013	46771507	88	17852											
SEC23B	10483	broad.mit.edu	37	chr20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattaaagattcctattcGttcttggcatgatattgaga	12	16	8	5	1	1	4	0	3	1	2	3	5	2	4	1	1	0	2	1	1	5	8			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:18507120G>A	ENST00000336714.3	+	8	1370	c.938G>A	c.(937-939)cGt>cAt	p.R313H	SEC23B_ENST00000262544.2_Missense_Mutation_p.R313H|SEC23B_ENST00000377465.1_Missense_Mutation_p.R313H|SEC23B_ENST00000377475.3_Missense_Mutation_p.R313H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	313			R -> H. {ECO:0000269|PubMed:19561605}.		ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTCCTATTCGTTCTTGGCAT	0.458																																						uc002wra.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(937-939)cGt>cAt		Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.							120	106	111					20																	18507120		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18507120G>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.938G>A	20.37:g.18507120G>A	ENSP00000338844:p.Arg313His					SEC23B_uc010zsb.2_Missense_Mutation_p.R295H|SEC23B_uc002wrb.2_Missense_Mutation_p.R313H|SEC23B_uc002wqz.2_Missense_Mutation_p.R313H|SEC23B_uc002wrc.2_Missense_Mutation_p.R313H	p.R313H	NM_032985	NP_116781	Q15437	SC23B_HUMAN			7	1399	+			313		R -> H.			D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.938G>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950955	0.92660	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.13	4.19	0.49359	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94585	0.7783	10	0.87932	D	0	-15.4382	12.7854	0.57502	0.0781:0.0:0.9219:0.0	.	295;313	B4DJW8;Q15437	.;SC23B_HUMAN	H	313	ENSP00000403971:R313H;ENSP00000338844:R313H;ENSP00000262544:R313H;ENSP00000366695:R313H;ENSP00000366685:R313H	ENSP00000262544:R313H	R	+	2	0	SEC23B	18455120	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	1.396000	0.46663	0.555000	0.69702	CGT		0.458	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			A	18507120	G	A	18507120	3	1	250	1	0	0	0	0	1	0	0	0	13992	1145	40	1	964	1	SEC23B	20	18507120	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	2253107	18507120	44518400	89	17853											
FAM83D	81610	broad.mit.edu	37	chr20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-																															agaggccgggagaggagggcGcggcggcggcggcggcggcc																								rs570408132	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719														78	0.0155751	0.056	0.0029	5008	,	,		15546	0		0	False		,,,				2504	0.002					uc002xjg.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(328-330)gcgdel		Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.				14,115,1361		5,0,4,42,31,663						2.4	1			2	250,104,3726		71,1,107,26,51,1784	no	codingComplex	FAM83D	NM_030919.2		76,1,111,68,82,2447	A1A1,A1A2,A1R,A2A2,A2R,RR		8.6765,8.6577,8.6715				264,219,5087				SO:0001651	inframe_deletion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555323_37555325delGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.328_330delGCG	20.37:g.37555332_37555334delGCG	ENSP00000217429:p.Ala116del					FAM83D_uc002xjf.3_In_Frame_Del_p.A116del	p.A116del	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			0	369_371	+		Myeloproliferative disorder(115;0.00878)	86					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Del	DEL	ENST00000217429.4	37	c.328_330delGCG	CCDS42872.1																																																																																				0.719	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			-	37555325	GCG	-	37555323	7	5	250	1	0	1	0	1	0	0	0	0	5636	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-41-5651-01A-01D-1696-08	19048203	37555323	25470197	90	17854											
SLC12A5	57468	broad.mit.edu	37	chr20	44674611	44674611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcattgcatccctcgAcgaggtggcccccatcctct	6	10	7	18	2	2	0	1	0	1	0	6	2	5	0	5	2	1	1	5	2	0	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:44674611A>G	ENST00000454036.2	+	13	1782	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D555G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	578					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCCCTCGACGAGGTGGCC	0.597																																						uc010zxl.1																			0		p.V578L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1732-1734)gAc>gGc		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						166	142	150					20																	44674611		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674611A>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1733A>G	20.37:g.44674611A>G	ENSP00000387694:p.Asp578Gly					SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	p.D578G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			12	1809	+		Myeloproliferative disorder(115;0.0122)	578					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1733A>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974153	0.53720	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98602	-5.02;-5.02	4.46	4.46	0.54185	Amino acid permease domain (1);	0.142500	0.45867	D	0.000333	D	0.98782	0.9590	H	0.95043	3.615	0.80722	D	1	B;B	0.29301	0.241;0.065	B;B	0.43018	0.405;0.101	D	0.99945	1.1459	10	0.72032	D	0.01	.	12.7173	0.57121	1.0:0.0:0.0:0.0	.	578;555	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	G	578;555	ENSP00000387694:D578G;ENSP00000243964:D555G	ENSP00000243964:D555G	D	+	2	0	SLC12A5	44108018	1.000000	0.71417	0.946000	0.38457	0.358000	0.29455	9.131000	0.94446	1.879000	0.54435	0.460000	0.39030	GAC		0.597	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			G	44674611	A	G	44674611	3	3	250	1	0	0	0	0	1	0	0	0	14386	275	10	4	1839	4	SLC12A5	20	44674611	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	7119288	44674611	18350909	91	17855											
NFATC2	4773	broad.mit.edu	37	chr20	50159018	50159018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgccgtcgggttggggCtgccgctcgggggcgttcat	1	9	17	14	6	1	0	1	0	0	0	4	0	2	0	4	5	1	4	4	5	0	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:50159018C>T	ENST00000396009.3	-	1	240	c.21G>A	c.(19-21)caG>caA	p.Q7Q	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000371564.3_Silent_p.Q7Q	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	7					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGTTGGGGCTGCCGCTCGG	0.721																																						uc002xwd.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(19-21)caG>caA		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							7	10	9					20																	50159018		2011	4047	6058	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50159018C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.21G>A	20.37:g.50159018C>T						NFATC2_uc002xwc.3_Silent_p.Q7Q|NFATC2_uc010zyv.2_5'UTR|NFATC2_uc010zyw.2_5'UTR|NFATC2_uc002xwe.3_Intron|NFATC2_uc010zyx.2_Intron|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	p.Q7Q	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			0	241	-	Hepatocellular(150;0.248)		7					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.21G>A	CCDS13437.1																																																																																				0.721	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		T	50159018	C	T	50159018	2	4	250	1	0	0	0	0	0	0	0	1	10362	796	28	3		3	NFATC2	20	50159018	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	5484407	50159018	12866502	92	17856											
OPRL1	4987	broad.mit.edu	37	chr20	62729401	62729401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatccgtgccctcgaCgtccgcacgtccagcaaagc	8	5	8	20	5	0	0	0	0	0	0	4	1	3	0	6	0	3	2	6	0	1	0	rs143380233		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:62729401C>T	ENST00000349451.3	+	5	892	c.480C>T	c.(478-480)gaC>gaT	p.D160D	OPRL1_ENST00000336866.2_Silent_p.D160D|OPRL1_ENST00000355631.4_Silent_p.D160D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	160					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGCCCTCGACGTCCGCACGT	0.587																																						uc002yic.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(478-480)gaC>gaT		Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.		C	,,	0,4406		0,0,2203	148	127	134		480,480,480	-7.3	0.4	20	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	160/371,160/371,160/371	62729401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729401C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.480C>T	20.37:g.62729401C>T						OPRL1_uc002yid.3_Silent_p.D160D|OPRL1_uc021wgs.1_Silent_p.D160D|OPRL1_uc002yif.4_Silent_p.D155D	p.D160D	NM_182647	NP_872588	P41146	OPRX_HUMAN			3	899	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		160					Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.480C>T	CCDS13556.1																																																																																				0.587	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		T	62729401	C	T	62729401	2	4	250	1	0	0	0	0	0	0	0	1	10886	535	19	1		1	OPRL1	20	62729401	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	12570383	62729401	296119	93	17857											
ITSN1	6453	broad.mit.edu	37	chr21	35231057	35231057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgctatgatttttgtgaActggaaggagctgattatgt	9	16	13	3	0	0	3	0	3	0	0	0	5	0	5	0	3	3	3	0	3	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:35231057A>C	ENST00000381318.3	+	31	4139	c.3851A>C	c.(3850-3852)aAc>aCc	p.N1284T	ITSN1_ENST00000381285.4_Missense_Mutation_p.N1284T|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.N1279T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N1279T|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1284	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTTTGTGAACTGGAAGGAG	0.453																																						uc002yta.1																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3850-3852)aAc>aCc		Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.							126	134	131					21																	35231057		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35231057A>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3851A>C	21.37:g.35231057A>C	ENSP00000370719:p.Asn1284Thr					DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_Non-coding_Transcript	p.N1284T	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			30	4119	+			1284			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3851A>C	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.475946|4.475946	0.84640|0.84640	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68137|0.68137	0.2968|0.2968	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.996;1.0	.|D;D;D	.|0.91635	.|0.999;0.925;0.997	T|T	0.73672|0.73672	-0.3909|-0.3909	5|10	.|0.87932	.|D	.|0	.|.	15.8758|15.8758	0.79159|0.79159	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1279;1279;1284	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	D|T	19|1284;1284;1213;1279;1279	.|ENSP00000370719:N1284T;ENSP00000370685:N1284T;ENSP00000382301:N1279T;ENSP00000387377:N1279T	.|ENSP00000370685:N1284T	E|N	+|+	3|2	2|0	ITSN1|ITSN1	34152927|34152927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.922000|8.922000	0.92789|0.92789	2.151000|2.151000	0.67156|0.67156	0.460000|0.460000	0.39030|0.39030	GAA|AAC		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		C	35231057	A	C	35231057	3	2	250	1	0	0	0	0	1	0	0	0	7926	43	2	5	3975	5	ITSN1	21	35231057	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08		35231057	12898838	94	17858											
IGSF5	150084	broad.mit.edu	37	chr21	41137664	41137664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaggtacgaccagggCgggaacttcacctcggagat	10	7	13	11	3	2	2	2	0	1	2	4	5	2	3	2	4	2	1	2	4	2	2	rs145170006	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:41137664C>T	ENST00000380588.4	+	3	406	c.303C>T	c.(301-303)ggC>ggT	p.G101G	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	101	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACGACCAGGGCGGGAACTTCA	0.557													c|||	5	0.000998403	0	0	5008	,	,		19511	0		0	False		,,,				2504	0.0051					uc002yyo.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(301-303)ggC>ggT		Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.		T		0,4406		0,0,2203	116	86	96		303	-5.4	0	21	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGSF5	NM_001080444.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		101/408	41137664	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41137664C>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.303C>T	21.37:g.41137664C>T							p.G101G	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			2	406	+		Prostate(19;5.35e-06)	101			Ig-like V-type 1.			Silent	SNP	ENST00000380588.4	37	c.303C>T	CCDS33562.1																																																																																				0.557	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			T	41137664	C	T	41137664	2	4	250	1	0	0	0	0	0	0	0	1	7602	755	27	1		1	IGSF5	21	41137664	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	5906607	41137664	6992231	95	17859											
ITGB2	3689	broad.mit.edu	37	chr21	46320382	46320382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgtgacgttgcgccagccGatttcctcctgagaagaagg	8	8	13	12	5	0	3	0	2	0	2	2	5	2	3	4	1	2	1	4	1	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:46320382G>A	ENST00000397850.2	-	8	1202	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I|ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000355153.4_Silent_p.I250I|ITGB2_ENST00000397857.1_Silent_p.I250I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	250	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647																																						uc002zgd.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(748-750)atC>atT		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						43	46	45					21																	46320382		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320382G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.750C>T	21.37:g.46320382G>A						ITGB2_uc002zgf.3_Silent_p.I250I|ITGB2_uc011afl.1_Silent_p.I172I|ITGB2_uc010gpw.2_Silent_p.I193I|ITGB2_uc002zgg.2_Silent_p.I250I	p.I250I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	794	-			250			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.750C>T	CCDS13716.1																																																																																				0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		A	46320382	G	A	46320382	2	1	250	1	0	0	0	0	0	0	0	1	7894	1048	37	2		2	ITGB2	21	46320382	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	5182718	46320382	1809513	96	17860											
SEC14L3	266629	broad.mit.edu	37	chr22	30856050	30856050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttctgcatgccctcGtcagggagcaggacctccac	8	10	9	14	1	3	0	2	0	1	0	5	2	4	2	3	2	3	2	3	2	1	2	rs116181219		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30856050G>A	ENST00000215812.4	-	12	1251	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Silent_p.D328D|SEC14L3_ENST00000401751.1_Silent_p.D328D|SEC14L3_ENST00000540910.1_Silent_p.D310D|SEC14L3_ENST00000402286.1_Silent_p.D310D	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	387						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCATGCCCTCGTCAGGGAGCA	0.502													G|||	1	0.000199681	0	0	5008	,	,		22591	0		0.001	False		,,,				2504	0				Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.3																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(1159-1161)gaC>gaT		Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	Vitamin E(DB00163)						107	83	91					22																	30856050		2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30856050G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1161C>T	22.37:g.30856050G>A						SEC14L3_uc003ahz.3_Silent_p.D310D|SEC14L3_uc003aia.3_Silent_p.D328D|SEC14L3_uc003aib.3_Silent_p.D328D	p.D387D	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			11	1250	-			387					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.1161C>T	CCDS13877.1																																																																																				0.502	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		A	30856050	G	A	30856050	2	1	250	1	0	0	0	0	0	0	0	1	13983	1136	40	1		1	SEC14L3	22	30856050	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		30856050	20448516	97	17861											
PES1	23481	broad.mit.edu	37	chr22	30980618	30980618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggtctgcacgtggcacTtgccagtccgcgggaaggtg	7	8	16	10	3	1	0	0	0	1	0	2	2	2	1	2	4	2	2	2	4	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30980618T>C	ENST00000405677.1	-	7	981	c.38A>G	c.(37-39)aAg>aGg	p.K13R	PES1_ENST00000402281.1_Missense_Mutation_p.K13R|PES1_ENST00000354694.7_Missense_Mutation_p.K152R|PES1_ENST00000402284.3_Missense_Mutation_p.K152R|PES1_ENST00000335214.6_Missense_Mutation_p.K152R	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CACGTGGCACTTGCCAGTCCG	0.612																																						uc003aij.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(454-456)aAg>aGg		Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.							84	57	66					22																	30980618		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30980618T>C	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.38A>G	22.37:g.30980618T>C	ENSP00000385654:p.Lys13Arg					PES1_uc003aik.2_Missense_Mutation_p.K152R|PES1_uc003aio.1_Missense_Mutation_p.K13R|PES1_uc003ain.1_Missense_Mutation_p.K13R	p.K152R	NM_014303	NP_055118	O00541	PESC_HUMAN			4	562	-			152			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.455A>G		.	.	.	.	.	.	.	.	.	.	T	17.61	3.433544	0.62955	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.17	5.17	0.71159	.	0.115400	0.64402	D	0.000016	T	0.39835	0.1093	L	0.46947	1.48	0.80722	D	1	B;B;B;B	0.31026	0.304;0.057;0.135;0.304	B;B;B;B	0.27262	0.078;0.044;0.037;0.078	T	0.21484	-1.0244	10	0.18276	T	0.48	-20.4618	14.7028	0.69166	0.0:0.0:0.0:1.0	.	152;152;152;152	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	R	152;13;13;152;152	ENSP00000346725:K152R;ENSP00000384366:K13R;ENSP00000385654:K13R;ENSP00000384252:K152R;ENSP00000334612:K152R	ENSP00000334612:K152R	K	-	2	0	PES1	29310618	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.460000	0.80816	1.967000	0.57214	0.533000	0.62120	AAG		0.612	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		C	30980618	T	C	30980618	3	2	250	1	0	0	0	0	1	0	0	0	11733	1609	56	4	1355	4	PES1	22	30980618	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	124568	30980618	20323948	98	17862											
MXRA5	25878	broad.mit.edu	37	chrX	3235173	3235173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgatcatcctcttggaCggcagcctccagaggatgcg	7	8	13	13	4	2	1	1	0	1	1	5	4	4	3	3	3	2	1	3	3	0	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:3235173C>T	ENST00000217939.6	-	6	6703	c.6549G>A	c.(6547-6549)ccG>ccA	p.P2183P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2183	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTCTTGGACGGCAGCCTCC	0.637																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6547-6549)ccG>ccA		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							15	14	15					X																	3235173		2192	4287	6479	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235173C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6549G>A	X.37:g.3235173C>T							p.P2183P	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6706	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2183			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6549G>A	CCDS14124.1																																																																																				0.637	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3235173	C	T	3235173	2	4	250	1	0	0	0	0	0	0	0	1	10003	523	19	1		1	MXRA5	23	3235173	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08		3235173	152035387	99	17863											
TLR7	51284	broad.mit.edu	37	chrX	12905182	12905182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcagcatctttctttcCtcaaatgcctgaatctgtca	9	17	4	11	0	6	1	3	1	3	0	7	1	7	1	2	0	2	1	2	0	2	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:12905182C>A	ENST00000380659.3	+	3	1694	c.1555C>A	c.(1555-1557)Ctc>Atc	p.L519I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	519					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TCTTTCTTTCCTCAAATGCCT	0.378																																						uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1555-1557)Ctc>Atc		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						126	135	132					X																	12905182		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905182C>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1555C>A	X.37:g.12905182C>A	ENSP00000370034:p.Leu519Ile						p.L519I	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			2	1694	+			519					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1555C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.755156	0.00663	.	.	ENSG00000196664	ENST00000380659	T	0.80653	-1.4	5.84	4.97	0.65823	.	0.080279	0.52532	D	0.000071	T	0.81498	0.4835	M	0.81614	2.55	0.53005	D	0.99996	B	0.30973	0.302	B	0.36666	0.23	T	0.76900	-0.2788	10	0.08381	T	0.77	.	15.5644	0.76277	0.1388:0.8612:0.0:0.0	.	519	Q9NYK1	TLR7_HUMAN	I	519	ENSP00000370034:L519I	ENSP00000370034:L519I	L	+	1	0	TLR7	12815103	1.000000	0.71417	0.986000	0.45419	0.014000	0.08584	3.922000	0.56462	1.219000	0.43474	-0.222000	0.12452	CTC		0.378	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		A	12905182	C	A	12905182	3	1	250	1	0	0	0	0	1	0	0	0	15953	681	24	5	1561	5	TLR7	23	12905182	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	9670009	12905182	142365378	100	17864											
DDX53	168400	broad.mit.edu	37	chrX	23019720	23019720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtagaggactttaaaagcGgaaacataaagatactgatt	18	9	9	5	1	0	3	0	1	0	2	0	5	0	5	0	2	3	1	0	2	7	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:23019720G>A	ENST00000327968.5	+	1	1634	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	516	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTTTAAAAGCGGAAACATAAA	0.373																																						uc004daj.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1546-1548)Gga>Aga		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.							114	106	109					X																	23019720		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019720G>A	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1546G>A	X.37:g.23019720G>A	ENSP00000368667:p.Gly516Arg						p.G516R	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			0	1643	+			516			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1546G>A	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060998	0.55432	.	.	ENSG00000184735	ENST00000327968	T	0.09073	3.02	3.65	3.65	0.41850	Helicase, C-terminal (3);	0.178179	0.49916	D	0.000140	T	0.28466	0.0704	M	0.79693	2.465	0.21020	N	0.999807	D	0.89917	1.0	D	0.76575	0.988	T	0.02860	-1.1101	10	0.87932	D	0	3.0122	12.3138	0.54944	0.0:0.0:1.0:0.0	.	516	Q86TM3	DDX53_HUMAN	R	516	ENSP00000368667:G516R	ENSP00000368667:G516R	G	+	1	0	DDX53	22929641	0.780000	0.28664	0.006000	0.13384	0.006000	0.05464	5.721000	0.68477	1.838000	0.53458	0.600000	0.82982	GGA		0.373	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23019720	G	A	23019720	3	1	250	1	0	0	0	0	1	0	0	0	4371	1117	39	2	1548	2	DDX53	23	23019720	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	10114538	23019720	132250840	101	17865											
CXorf21	80231	broad.mit.edu	37	chrX	30577750	30577750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcatgatgagttcagaCgccagaatctgggtaggaga	11	10	13	7	1	3	5	2	2	1	3	3	6	3	5	1	2	0	2	1	2	2	3	rs377147619		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:30577750C>T	ENST00000378962.3	-	3	1045	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	241										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGAGTTCAGACGCCAGAATCT	0.438													C|||	1	0.000264901	0	0	3775	,	,		15769	0.001		0	False		,,,				2504	0					uc022bui.1																			0		p.A241E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(721-723)gcG>gcA		Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.		C		0,3833		0,0,0,1631,571	136	118	124		723	-6.2	1	X		124	2,6726		0,0,2,2428,1870	no	coding-synonymous	CXorf21	NM_025159.2		0,0,2,4059,2441	TT,TC,T,CC,C		0.0297,0.0,0.0189		241/302	30577750	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577750C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.723G>A	X.37:g.30577750C>T						CXorf21_uc004dcg.2_Silent_p.A241A	p.A241A	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			0	723	-			241						Silent	SNP	ENST00000378962.3	37	c.723G>A	CCDS14224.1																																																																																				0.438	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		T	30577750	C	T	30577750	2	4	250	1	0	0	0	0	0	0	0	1	4101	523	19	1		1	CXorf21	23	30577750	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	7558030	30577750	124692810	102	17866											
GRIPAP1	56850	broad.mit.edu	37	chrX	48839756	48839756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctccttctcatgccGtagacgaactgctcccagct	8	9	7	17	2	1	1	1	0	1	1	4	2	3	1	4	0	5	4	4	0	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:48839756G>A	ENST00000376441.1	-	16	1403	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R426W|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R412W|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R404W|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	457						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTCTCATGCCGTAGACGAACT	0.597																																						uc004dly.1																			0		p.M456V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(1369-1371)Cgg>Tgg		Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.							127	94	105					X																	48839756		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48839756G>A	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1369C>T	X.37:g.48839756G>A	ENSP00000365624:p.Arg457Trp					GRIPAP1_uc004dlz.3_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.3_Missense_Mutation_p.R404W	p.R457W	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			15	1404	-			457					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.1369C>T	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839358	0.51057	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.54279	0.58;1.87;1.87;1.87	4.26	3.38	0.38709	.	0.200289	0.33057	N	0.005324	T	0.45577	0.1349	N	0.08118	0	0.26509	N	0.974628	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.56916	0.72;0.809;0.736	T	0.44922	-0.9296	10	0.87932	D	0	-3.1231	11.8092	0.52173	0.0:0.0:0.8228:0.1771	.	404;347;457	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	W	426;412;457;426;404	ENSP00000365608:R426W;ENSP00000365627:R412W;ENSP00000365624:R457W;ENSP00000365606:R404W	ENSP00000365606:R404W	R	-	1	2	GRIPAP1	48724700	1.000000	0.71417	0.558000	0.28319	0.118000	0.20060	2.929000	0.48916	0.623000	0.30267	0.471000	0.43371	CGG		0.597	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		A	48839756	G	A	48839756	3	1	250	1	0	0	0	0	1	0	0	0	6789	1144	40	1	1254	1	GRIPAP1	23	48839756	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	18262006	48839756	106430804	103	17867											
ITIH5L	347365	broad.mit.edu	37	chrX	54785423	54785423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagagctgagttgaCgtctgtccctaattggggaa	9	10	13	9	1	1	3	0	2	1	1	2	4	2	4	2	2	3	3	2	2	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:54785423C>T	ENST00000218436.6	-	8	1113	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	362	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCTGAGTTGACGTCTGTCCCT	0.547																																						uc004dtj.2																			0											c.(1084-1086)Gtc>Atc		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							11	9	10					X																	54785423		2167	4207	6374	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785423C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1084G>A	X.37:g.54785423C>T	ENSP00000218436:p.Val362Ile						p.V362I	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	1114	-			362			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1084G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.707269	0.00719	.	.	ENSG00000102313	ENST00000218436	T	0.11169	2.8	3.77	3.77	0.43336	von Willebrand factor, type A (3);	0.068497	0.56097	N	0.000028	T	0.01627	0.0052	N	0.00085	-2.2	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.44467	-0.9326	10	0.02654	T	1	.	7.7198	0.28725	0.0:0.1088:0.0:0.8912	.	362	Q6UXX5	ITH5L_HUMAN	I	362	ENSP00000218436:V362I	ENSP00000218436:V362I	V	-	1	0	ITIH5L	54802148	1.000000	0.71417	0.631000	0.29282	0.077000	0.17291	3.674000	0.54598	0.236000	0.21180	-0.329000	0.08387	GTC		0.547	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54785423	C	T	54785423	3	4	250	1	0	0	0	0	1	0	0	0	7908	536	19	1	2881	1	ITIH5L	23	54785423	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	5945667	54785423	100485137	104	17868											
ZXDA	7789	broad.mit.edu	37	chrX	57936065	57936065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacaggtacagcaccaCgcctggaccagagcccagca	11	2	13	15	1	0	1	0	0	0	1	0	2	0	2	4	4	4	4	4	4	1	1	rs201132004		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:57936065C>T	ENST00000358697.4	-	1	1002	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	264					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TACAGCACCACGCCTGGACCA	0.726																																						uc004dve.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(790-792)Gtg>Atg		Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.							10	11	10					X																	57936065		2185	4279	6464	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936065C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.790G>A	X.37:g.57936065C>T	ENSP00000351530:p.Val264Met						p.V264M	NM_007156	NP_009087	P98168	ZXDA_HUMAN			0	1003	-			264					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.790G>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	4.469	0.086837	0.08583	.	.	ENSG00000198205	ENST00000358697	T	0.11063	2.81	3.35	-1.21	0.09524	.	0.945964	0.08857	N	0.883680	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.44221	-0.9342	9	.	.	.	.	4.469	0.11703	0.0:0.4288:0.1672:0.4041	.	264	P98168	ZXDA_HUMAN	M	264	ENSP00000351530:V264M	.	V	-	1	0	ZXDA	57952790	0.000000	0.05858	0.100000	0.21137	0.496000	0.33645	-0.394000	0.07296	-0.414000	0.07495	0.415000	0.27848	GTG		0.726	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		T	57936065	C	T	57936065	3	4	250	1	0	0	0	0	1	0	0	0	18247	536	19	1	1613	1	ZXDA	23	57936065	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	3150642	57936065	97334495	105	17869											
TAF1	6872	broad.mit.edu	37	chrX	70613222	70613222	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaacaggctcgttctggAgaggggcccatgagtaaatt	12	8	13	8	1	1	3	0	1	1	2	2	4	1	3	1	4	1	3	1	4	3	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:70613222A>C	ENST00000373790.4	+	21	3171	c.3120A>C	c.(3118-3120)ggA>ggC	p.G1040G	TAF1_ENST00000276072.3_Silent_p.G1061G|TAF1_ENST00000449580.1_Silent_p.G1040G|TAF1_ENST00000423759.1_Silent_p.G1061G	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1040					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTCGTTCTGGAGAGGGGCCCA	0.468																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3118-3120)ggA>ggC		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							126	113	118					X																	70613222		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613222A>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3120A>C	X.37:g.70613222A>C						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.G1061G|TAF1_uc004dzv.4_Silent_p.G214G	p.G1040G	NM_138923	NP_620278	P21675	TAF1_HUMAN			20	3171	+	Renal(35;0.156)	all_lung(315;0.000321)	1040					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.3120A>C	CCDS35325.1																																																																																				0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		C	70613222	A	C	70613222	2	2	250	1	0	0	0	0	0	0	0	1	15510	291	11	5		5	TAF1	23	70613222	Silent	SNP	A	TCGA-41-5651-01A-01D-1696-08	12677157	70613222	84657338	106	17870											
ABCB7	22	broad.mit.edu	37	chrX	74291376	74291376	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgactggcgagcaccattAtagctgttaaaccgacactg	11	9	9	12	2	0	1	0	1	0	0	0	3	0	1	3	1	3	3	3	1	4	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:74291376A>T	ENST00000373394.3	-	9	1182	c.1175T>A	c.(1174-1176)aTa>aAa	p.I392K	ABCB7_ENST00000339447.4_Missense_Mutation_p.I352K|ABCB7_ENST00000253577.3_Missense_Mutation_p.I393K|ABCB7_ENST00000534570.1_5'UTR			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	392	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGCACCATTATAGCTGTTAA	0.388																																						uc004ebz.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1177-1179)aTa>aAa		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.							132	116	121					X																	74291376		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74291376A>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1175T>A	X.37:g.74291376A>T	ENSP00000362492:p.Ile392Lys					ABCB7_uc010nlt.3_Missense_Mutation_p.I352K|ABCB7_uc004eca.3_Missense_Mutation_p.I392K|ABCB7_uc011mqn.2_Missense_Mutation_p.I366K|ABCB7_uc010nls.3_Missense_Mutation_p.I353K	p.I393K	NM_004299	NP_004290	O75027	ABCB7_HUMAN			8	1203	-			392			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1178T>A		.	.	.	.	.	.	.	.	.	.	A	21.6	4.168548	0.78339	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	4.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047519	0.85682	D	0.000000	D	0.94716	0.8295	M	0.90145	3.09	0.80722	D	1	B;P;P;B;P	0.37276	0.035;0.534;0.589;0.14;0.534	B;P;P;B;B	0.50231	0.161;0.501;0.635;0.248;0.421	D	0.95228	0.8340	10	0.87932	D	0	-11.3591	12.769	0.57410	1.0:0.0:0.0:0.0	.	366;352;393;392;393	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	K	366;393;352;392;366	ENSP00000253577:I393K;ENSP00000343849:I352K;ENSP00000362492:I392K;ENSP00000436586:I366K	ENSP00000253577:I393K	I	-	2	0	ABCB7	74208101	1.000000	0.71417	0.345000	0.25642	0.940000	0.58332	7.183000	0.77697	1.603000	0.50134	0.486000	0.48141	ATA		0.388	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		T	74291376	A	T	74291376	3	4	250	1	0	0	0	0	1	0	0	0	46	449	16	5	1115	5	ABCB7	23	74291376	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	3678154	74291376	80979184	107	17871											
RPL36A	6173	broad.mit.edu	37	chrX	100646453	100646453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctttactaggttaacGtccctaaaacccgccggact	9	13	7	12	3	1	0	0	0	1	0	2	1	2	1	3	2	3	2	3	2	5	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:100646453G>A	ENST00000553110.3	+	2	94	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.T14T|RPL36A_ENST00000471855.1_5'UTR|RPL36A_ENST00000427805.2_Missense_Mutation_p.V40I			P83881	RL36A_HUMAN	ribosomal protein L36a	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						CTAGGTTAACGTCCCTAAAAC	0.498																																						uc022cag.1																			0											c.(118-120)Gtc>Atc		Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.							175	168	170					X																	100646453		2203	4300	6503	SO:0001583	missense	6173							g.chrX:100646453G>A	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.10G>A	X.37:g.100646453G>A	ENSP00000446503:p.Val4Ile					RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.V40I|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.V40I|RPL36A-HNRNPH2_uc004ehk.3_Missense_Mutation_p.V4I	p.V40I	NM_001199973	NP_001186902					1	164	+								P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	ENST00000553110.3	37	c.118G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044636|2.044636	0.36085|0.36085	.|.	.|.	ENSG00000241343|ENSG00000241343;ENSG00000241343;ENSG00000257529	ENST00000392994|ENST00000427805;ENST00000553110;ENST00000409338	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.71|5.71	3.9|3.9	0.45041|0.45041	.|Ribosomal protein, zinc-binding domain (1);	.|0.000000	.|0.53938	.|U	.|0.000055	T|T	0.26231|0.26231	0.0640|0.0640	N|N	0.20357|0.20357	0.565|0.565	0.33870|0.33870	D|D	0.63488|0.63488	.|B;B	.|0.14012	.|0.009;0.007	.|B;B	.|0.11329	.|0.002;0.006	T|T	0.27262|0.27262	-1.0079|-1.0079	5|10	.|0.24483	.|T	.|0.36	-41.7232|-41.7232	10.45|10.45	0.44516|0.44516	0.0718:0.0:0.7956:0.1326|0.0718:0.0:0.7956:0.1326	.|.	.|4;4	.|P83881;B2REA7	.|RL36A_HUMAN;.	H|I	22|40;4;15	.|ENSP00000404375:V40I;ENSP00000446503:V4I;ENSP00000386974:V15I	.|ENSP00000386974:V15I	R|V	+|+	2|1	0|0	RPL36A|RPL36A;RP1-164F3.9	100533109|100533109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.436000|0.436000	0.31835|0.31835	6.249000|6.249000	0.72427|0.72427	1.162000|1.162000	0.42619|0.42619	0.468000|0.468000	0.43344|0.43344	CGT|GTC		0.498	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029		A	100646453	G	A	100646453	3	1	250	1	0	0	0	0	1	0	0	0	13587	1145	40	1	16	1	RPL36A	23	100646453	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	26355077	100646453	54624107	108	17872											
KIAA1210	57481	broad.mit.edu	37	chrX	118238988	118238988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttatgtggtaaagcCttcttttgtggattcttagg	9	17	9	6	0	3	0	0	0	3	0	3	1	3	1	1	3	2	1	1	3	5	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:118238988C>A	ENST00000402510.2	-	7	1034	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	345										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGGTAAAGCCTTCTTTTGTG	0.418																																						uc004era.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1033-1035)aaG>aaT		Homo sapiens KIAA1210 (KIAA1210), mRNA.							158	151	154					X																	118238988		1906	4124	6030	SO:0001583	missense	57481							g.chrX:118238988C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1035G>T	X.37:g.118238988C>A	ENSP00000384670:p.Lys345Asn						p.K345N	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			6	1035	-			345					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1035G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339376	0.24339	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10763	2.84	4.14	2.33	0.28932	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.24119	-1.0169	9	0.33940	T	0.23	.	4.9884	0.14202	0.0:0.72:0.0:0.28	.	345	Q9ULL0	K1210_HUMAN	N	345;181	ENSP00000384670:K345N	ENSP00000396164:K181N	K	-	3	2	RP13-347D8.5;RP13-347D8.6	118123016	0.000000	0.05858	0.013000	0.15412	0.106000	0.19336	-0.071000	0.11505	0.840000	0.34995	0.506000	0.49869	AAG		0.418	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		A	118238988	C	A	118238988	3	1	250	1	0	0	0	0	1	0	0	0	8214	680	24	5	4126	5	KIAA1210	23	118238988	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	17592535	118238988	37031572	109	17873											
FRMD7	90167	broad.mit.edu	37	chrX	131219611	131219611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaagagattttacccGtaacaccagtactcccatgt	15	9	7	10	1	0	1	0	0	0	1	1	3	1	2	3	1	3	2	3	1	5	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:131219611G>A	ENST00000298542.4	-	7	818	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FRMD7_ENST00000370879.1_Missense_Mutation_p.R95W|FRMD7_ENST00000464296.1_Missense_Mutation_p.R200W	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTTACCCGTAACACCAGT	0.512																																						uc004ewn.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(643-645)Cgg>Tgg		Homo sapiens FERM domain containing 7 (FRMD7), mRNA.							153	133	140					X																	131219611		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219611G>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.643C>T	X.37:g.131219611G>A	ENSP00000298542:p.Arg215Trp					FRMD7_uc022cdy.1_Missense_Mutation_p.R95W|FRMD7_uc011muy.2_Missense_Mutation_p.R200W	p.R215W	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			6	821	-	Acute lymphoblastic leukemia(192;0.000127)		215			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.643C>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202471	0.79127	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.82711	-1.64;-1.64;-1.64	5.71	4.84	0.62591	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.119091	0.56097	N	0.000025	D	0.89581	0.6756	M	0.71871	2.18	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.90081	0.4170	10	0.87932	D	0	.	12.2995	0.54866	0.0:0.0:0.6946:0.3054	.	200;215	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	W	95;215;200	ENSP00000359916:R95W;ENSP00000298542:R215W;ENSP00000417996:R200W	ENSP00000298542:R215W	R	-	1	2	FRMD7	131047292	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.590000	0.67530	1.156000	0.42514	0.600000	0.82982	CGG		0.512	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		A	131219611	G	A	131219611	3	1	250	1	0	0	0	0	1	0	0	0	6055	1144	40	1	1525	1	FRMD7	23	131219611	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	12980623	131219611	24050949	110	17874											
ATP2B3	492	broad.mit.edu	37	chrX	152818620	152818620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatctgcatcgcctacCgggacttctctgcaggccag	7	8	10	16	2	2	0	0	0	2	0	4	1	2	1	4	2	3	3	4	2	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:152818620C>T	ENST00000349466.2	+	12	2277	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ATP2B3_ENST00000263519.4_Missense_Mutation_p.R651W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R637W|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R637W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R637W|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R651W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	651					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGCCTACCGGGACTTCTC	0.632																																						uc004fht.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1951-1953)Cgg>Tgg		Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.							90	64	73					X																	152818620		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818620C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1951C>T	X.37:g.152818620C>T	ENSP00000343886:p.Arg651Trp					ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	p.R651W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			10	2077	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		651					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1951C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656321	0.67586	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.44	4.55	0.56014	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.97415	4	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98561	1.0641	10	0.87932	D	0	-27.5555	13.1919	0.59715	0.1647:0.8353:0.0:0.0	.	651;651	Q16720;Q16720-2	AT2B3_HUMAN;.	W	637;651;637;651;651;637	ENSP00000359205:R637W;ENSP00000343886:R651W;ENSP00000377425:R637W;ENSP00000352062:R651W;ENSP00000263519:R651W;ENSP00000359200:R637W	ENSP00000263519:R651W	R	+	1	2	ATP2B3	152471814	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	1.297000	0.33400	1.002000	0.39104	0.600000	0.82982	CGG		0.632	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152818620	C	T	152818620	3	4	250	1	0	0	0	0	1	0	0	0	1141	643	23	2	1993	2	ATP2B3	23	152818620	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	21599009	152818620	2451940	111	17875											
CYP4X1	260293	broad.mit.edu	37	chr1	47498961	47498961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtggttccagcatcgtcGcctactaactcctggattcc	8	11	8	14	2	0	0	0	0	0	0	5	1	3	1	4	2	3	2	4	2	3	4	rs116257861	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:47498961G>A	ENST00000371901.3	+	4	663	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R137H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	138						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGCATCGTCGCCTACTAACT	0.428													G|||	7	0.00139776	8e-04	0.0014	5008	,	,		18849	0		0	False		,,,				2504	0.0051					uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(412-414)cGc>cAc		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.		G	HIS/ARG	0,4406		0,0,2203	125	107	113		413	-1.5	0	1	dbSNP_132	113	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CYP4X1	NM_178033.1	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	138/510	47498961	4,13002	2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47498961G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.413G>A	1.37:g.47498961G>A	ENSP00000360968:p.Arg138His					CYP4X1_uc001cqr.3_Missense_Mutation_p.R137H|CYP4X1_uc001cqs.3_Missense_Mutation_p.R73H	p.R138H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			3	663	+			138					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.413G>A	CCDS544.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.85	2.359043	0.41801	0.0	4.65E-4	ENSG00000186377	ENST00000538609;ENST00000371901	D;T	0.81739	-1.53;-0.62	5.91	-1.51	0.08664	.	0.809286	0.11767	N	0.531480	T	0.72637	0.3485	L	0.42581	1.335	0.09310	N	1	P;B	0.36633	0.562;0.371	B;B	0.36186	0.219;0.112	T	0.63808	-0.6553	10	0.62326	D	0.03	.	12.5046	0.55973	0.4727:0.0:0.5273:0.0	.	138;137	Q8N118;G3V1U1	CP4X1_HUMAN;.	H	137;138	ENSP00000445965:R137H;ENSP00000360968:R138H	ENSP00000360968:R138H	R	+	2	0	CYP4X1	47271548	0.001000	0.12720	0.006000	0.13384	0.705000	0.40729	0.930000	0.28858	-0.069000	0.12931	-0.229000	0.12294	CGC		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		A	47498961	G	A	47498961	3	1	251	1	0	0	0	0	1	0	0	0	4193	1087	38	1	427	1	CYP4X1	1	47498961	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		47498961	201751660	1	17876											
CREB3L4	148327	broad.mit.edu	37	chr1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcccagagcaggcaccGtagccccagtgccctgtaca	8	6	10	17	1	0	1	0	0	0	1	1	1	1	1	6	1	5	4	6	1	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:153941905G>A	ENST00000368607.3	+	4	783	c.517G>A	c.(517-519)Gta>Ata	p.V173I	RP11-422P24.10_ENST00000608147.1_RNA|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000405694.3_Missense_Mutation_p.V26I|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.V173I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V153I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V173I|CREB3L4_ENST00000368603.1_Missense_Mutation_p.V173I	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	173					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGCAGGCACCGTAGCCCCAGT	0.532																																						uc001fdm.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(517-519)Gta>Ata		Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.							104	89	94					1																	153941905		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941905G>A	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.517G>A	1.37:g.153941905G>A	ENSP00000357596:p.Val173Ile					SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.V173I|CREB3L4_uc010pef.1_Missense_Mutation_p.V26I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V153I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.V173I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V153I	p.V173I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	785	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		173					D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.517G>A	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	G	2.769	-0.256203	0.05829	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.76578	-1.03;-0.03;-0.03;-0.03;0.94;-0.03;-0.03;0.9	4.68	-1.15	0.09709	.	1.298410	0.05553	N	0.567930	T	0.44286	0.1286	L	0.41236	1.265	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12837	-1.0532	10	0.33141	T	0.24	.	4.3232	0.11027	0.278:0.0:0.4594:0.2626	.	153;173	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	I	26;153;173;173;173;173;153;173	ENSP00000385104:V26I;ENSP00000391847:V153I;ENSP00000357596:V173I;ENSP00000271889:V173I;ENSP00000357590:V173I;ENSP00000357592:V173I;ENSP00000357589:V153I;ENSP00000402308:V173I	ENSP00000271889:V173I	V	+	1	0	CREB3L4	152208529	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.587000	0.05780	-0.757000	0.04697	-2.619000	0.00157	GTA		0.532	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		A	153941905	G	A	153941905	3	1	251	1	0	0	0	0	1	0	0	0	3859	1145	40	1	527	1	CREB3L4	1	153941905	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	106442944	153941905	95308716	2	17877											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179886766	179886766	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagaataagtaccaaggtCaagatgagaagctgtggaaa	18	8	11	4	0	1	3	1	1	0	3	1	5	1	4	1	2	2	2	1	2	8	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:179886766C>T	ENST00000606911.2	+	10	1335	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	TOR1AIP1_ENST00000435319.4_Nonsense_Mutation_p.Q261*|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q398*|TOR1AIP1_ENST00000528443.2_Nonsense_Mutation_p.Q383*			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	382	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTACCAAGGTCAAGATGAGAA	0.443																																						uc001gnq.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1144-1146)Caa>Taa		Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.							90	88	89					1																	179886766		2203	4300	6503	SO:0001587	stop_gained	26092					integral to membrane|nuclear inner membrane		g.chr1:179886766C>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1144C>T	1.37:g.179886766C>T	ENSP00000476687:p.Gln382*						p.Q382*	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			9	1362	+			382					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Nonsense_Mutation	SNP	ENST00000606911.2	37	c.1144C>T	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	C	39	7.647917	0.98409	.	.	ENSG00000143337	ENST00000528443;ENST00000271583;ENST00000435319	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8591	19.7816	0.96418	0.0:1.0:0.0:0.0	.	.	.	.	X	383;398;382	.	.	Q	+	1	0	TOR1AIP1	178153389	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.187000	0.77730	2.775000	0.95449	0.655000	0.94253	CAA		0.443	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		T	179886766	C	T	179886766	4	4	251	1	0	0	0	0	0	1	0	0	16369	827	29	3	1182	3	TOR1AIP1	1	179886766	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	25944861	179886766	69363855	3	17878											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	7	14	8	12	0	2	2	1	1	1	1	3	3	3	3	4	2	3	2	4	2	3	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTCTTACCCCTTTTGAATTTC	0.418																																						uc001gpy.4																			1	Substitution - coding silent(1)	p.P641P(2)|p.P641L(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1921-1923)ccT>ccC		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122	127	125					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1923T>C	1.37:g.183087214T>C							p.P641P	NM_002293	NP_002284	P11047	LAMC1_HUMAN			10	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		C	183087214	T	C	183087214	2	2	251	1	0	0	0	0	0	0	0	1	8614	1596	56	4		4	LAMC1	1	183087214	Silent	SNP	T	TCGA-41-6646-01A-11D-1845-08	3200448	183087214	66163407	4	17879											
ELK4	2005	broad.mit.edu	37	chr1	205589407	205589407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcaaagggggtatggacGaaatgggtggtgtggtggca	9	8	19	5	1	0	0	0	0	0	0	0	2	0	1	1	7	1	3	1	7	3	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:205589407G>A	ENST00000357992.4	-	3	1106	c.767C>T	c.(766-768)tCg>tTg	p.S256L	ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Missense_Mutation_p.S256L	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	256					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTATGGACGAAATGGGTGG	0.522			T	SLC45A3	prostate																																	uc001hcy.2				Dom	yes		1	1q32	2005	T	"ELK4, ETS-domain protein (SRF accessory protein 1)"			E	"ETV1, ETV5, ELK4, ERG"		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(766-768)tCg>tTg		Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.							160	166	164					1																	205589407		2203	4300	6503	SO:0001583	missense	2005				transmembrane transport	integral to membrane		g.chr1:205589407G>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.767C>T	1.37:g.205589407G>A	ENSP00000350681:p.Ser256Leu					SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S256L	p.S256L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	2017	-	Breast(84;0.07)		0					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.767C>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	5.219	0.225912	0.09916	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.33865	1.71;1.39	5.64	3.77	0.43336	.	0.507497	0.23777	N	0.044672	T	0.25457	0.0619	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.001	T	0.15867	-1.0422	10	0.44086	T	0.13	.	11.0455	0.47857	0.1514:0.0:0.8486:0.0	.	256;256	P28324-2;P28324	.;ELK4_HUMAN	L	346;256;256	ENSP00000350681:S256L;ENSP00000289703:S256L	ENSP00000289703:S256L	S	-	2	0	ELK4	203856030	0.070000	0.21116	0.002000	0.10522	0.007000	0.05969	2.622000	0.46427	0.747000	0.32809	0.655000	0.94253	TCG		0.522	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		A	205589407	G	A	205589407	3	1	251	1	0	0	0	0	1	0	0	0	5061	1059	37	2	678	2	ELK4	1	205589407	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	22502193	205589407	43661214	5	17880											
MRPL55	128308	broad.mit.edu	37	chr1	228294495	228294495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagaactgtcggtagCgctccacatgcaagtcatca	10	9	10	12	2	2	1	2	0	0	1	5	1	4	1	2	2	3	3	2	2	3	1	rs145809265		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:228294495C>T	ENST00000411464.2	-	5	1146	c.353G>A	c.(352-354)cGc>cAc	p.R118H	MRPL55_ENST00000366744.1_Missense_Mutation_p.R118H|MRPL55_ENST00000348259.5_Missense_Mutation_p.R118H|MRPL55_ENST00000430433.1_Missense_Mutation_p.R154H|MRPL55_ENST00000366731.5_Missense_Mutation_p.R154H|MRPL55_ENST00000336520.3_Missense_Mutation_p.R118H|MRPL55_ENST00000366742.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366741.1_Missense_Mutation_p.R118H|MRPL55_ENST00000336300.5_Missense_Mutation_p.R118H|MRPL55_ENST00000366740.1_Missense_Mutation_p.R118H|MRPL55_ENST00000295008.4_Missense_Mutation_p.R118H|MRPL55_ENST00000366739.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366746.3_Missense_Mutation_p.R118H|MRPL55_ENST00000366747.3_Missense_Mutation_p.R118H|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366734.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366735.1_Missense_Mutation_p.R118H|MRPL55_ENST00000391867.3_Missense_Mutation_p.R118H|MRPL55_ENST00000366733.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366738.1_Missense_Mutation_p.R154H|MRPL55_ENST00000366736.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366732.1_Missense_Mutation_p.R115H			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	118					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CTGTCGGTAGCGCTCCACATG	0.592																																						uc001hrz.4																			0				central_nervous_system(1)|lung(4)	5						c.(460-462)cGc>cAc		Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	147	122	130		353,353,353,353,461,353,353,353	-4.7	0	1	dbSNP_134	130	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	MRPL55	NM_181441.2,NM_181454.2,NM_181455.2,NM_181456.2,NM_181462.2,NM_181463.2,NM_181464.2,NM_181465.2	29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign	118/129,118/129,118/129,118/129,154/165,118/129,118/129,118/129	228294495	1,13005	2203	4300	6503	SO:0001583	missense	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228294495C>T	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"Mitochondrial ribosomal proteins / large subunits"	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.353G>A	1.37:g.228294495C>T	ENSP00000401737:p.Arg118His					MRPL55_uc001hsg.4_Missense_Mutation_p.R118H|MRPL55_uc009xex.3_Missense_Mutation_p.R118H|MRPL55_uc001hsa.4_Missense_Mutation_p.R118H|MRPL55_uc001hsb.4_Missense_Mutation_p.R118H|MRPL55_uc001hsc.4_Missense_Mutation_p.R118H|MRPL55_uc001hsd.4_Missense_Mutation_p.R118H|MRPL55_uc001hse.4_Missense_Mutation_p.R118H|MRPL55_uc001hsf.4_Missense_Mutation_p.R118H	p.R154H	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN			5	750	-		Prostate(94;0.0405)	118					Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	ENST00000411464.2	37	c.461G>A	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698478	0.15106	2.27E-4	0.0	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.33	-4.69	0.03299	.	1.141580	0.06412	N	0.720743	T	0.25082	0.0609	L	0.38531	1.155	0.09310	N	0.999999	B;B	0.17667	0.023;0.008	B;B	0.12156	0.007;0.007	T	0.27434	-1.0074	10	0.44086	T	0.13	-4.3325	13.9505	0.64113	0.0:0.3013:0.0:0.6987	.	154;118	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	H	115;118;118;118;118;154;118;118;118;118;118;118;118;118;118;118;118;154;118;154;118	ENSP00000355693:R115H;ENSP00000355694:R118H;ENSP00000355695:R118H;ENSP00000355696:R118H;ENSP00000355697:R118H;ENSP00000355699:R154H;ENSP00000355702:R118H;ENSP00000355701:R118H;ENSP00000355700:R118H;ENSP00000355703:R118H;ENSP00000355705:R118H;ENSP00000338189:R118H;ENSP00000355708:R118H;ENSP00000355707:R118H;ENSP00000295008:R118H;ENSP00000337342:R118H;ENSP00000337361:R118H;ENSP00000403614:R154H;ENSP00000375740:R118H;ENSP00000355692:R154H;ENSP00000401737:R118H	ENSP00000295008:R118H	R	-	2	0	MRPL55	226361118	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.282000	0.02799	-1.358000	0.02177	-2.069000	0.00389	CGC		0.592	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233		T	228294495	C	T	228294495	3	4	251	1	0	0	0	0	1	0	0	0	9819	768	27	1	37	1	MRPL55	1	228294495	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	22705088	228294495	20956126	6	17881											
RYR2	6262	broad.mit.edu	37	chr1	237632437	237632437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaactgtgctcaattttctgGctccctcgactggttgatca	8	14	8	11	1	3	1	2	1	1	0	5	2	4	1	1	2	2	3	1	2	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:237632437G>A	ENST00000366574.2	+	17	1975	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Missense_Mutation_p.G537D|RYR2_ENST00000360064.6_Missense_Mutation_p.G551D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	553					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G551V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTCTGGCTCCCTCGAC	0.373																																						uc001hyl.1																			1	Substitution - Missense(1)	p.G551V(1)|p.L553L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1657-1659)gGc>gAc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							127	124	125					1																	237632437		1819	4089	5908	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632437G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1658G>A	1.37:g.237632437G>A	ENSP00000355533:p.Gly553Asp						p.G553D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1778	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	553					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1658G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204041	0.38905	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88431	-2.38;-2.38;-2.38	4.94	4.03	0.46877	Intracellular calcium-release channel (1);	0.087062	0.44285	U	0.000476	T	0.74419	0.3714	N	0.03608	-0.345	0.80722	D	1	B	0.28667	0.219	B	0.30251	0.113	T	0.69209	-0.5205	10	0.27785	T	0.31	.	10.4983	0.44791	0.0929:0.0:0.9071:0.0	.	553	Q92736	RYR2_HUMAN	D	553;551;537	ENSP00000355533:G553D;ENSP00000353174:G551D;ENSP00000443798:G537D	ENSP00000353174:G551D	G	+	2	0	RYR2	235699060	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	5.765000	0.68834	1.079000	0.41038	0.563000	0.77884	GGC		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237632437	G	A	237632437	3	1	251	1	0	0	0	0	1	0	0	0	13769	1203	42	3	1724	3	RYR2	1	237632437	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	9337942	237632437	11618184	7	17882											
OR2T11	127077	broad.mit.edu	37	chr1	248789661	248789661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaggactggggcagcaCgtatgtgtagaaggcagccc	10	6	17	8	1	0	1	0	0	0	1	0	3	0	3	1	5	2	5	1	5	4	2	rs139227153	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:248789661C>T	ENST00000330803.2	-	1	830	c.769G>A	c.(769-771)Gtg>Atg	p.V257M		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGCAGCACGTATGTGTAG	0.532																																						uc001ier.1																			0		p.Y256Y(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(769-771)Gtg>Atg		Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.							75	69	71					1																	248789661		2048	4233	6281	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789661C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.769G>A	1.37:g.248789661C>T	ENSP00000328934:p.Val257Met						p.V257M	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	769	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		257					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.769G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.738020	0.00681	.	.	ENSG00000183130	ENST00000330803	T	0.38560	1.13	4.24	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	N	0.001897	T	0.12732	0.0309	N	0.02111	-0.68	0.09310	N	1	B	0.21606	0.058	B	0.25987	0.065	T	0.37337	-0.9710	10	0.02654	T	1	.	6.3393	0.21314	0.1456:0.6842:0.0:0.1702	.	257	Q8NH01	O2T11_HUMAN	M	257	ENSP00000328934:V257M	ENSP00000328934:V257M	V	-	1	0	OR2T11	246856284	0.000000	0.05858	0.013000	0.15412	0.812000	0.45895	-1.730000	0.01855	0.399000	0.25367	0.655000	0.94253	GTG		0.532	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		T	248789661	C	T	248789661	3	4	251	1	0	0	0	0	1	0	0	0	11018	536	19	1	185	1	OR2T11	1	248789661	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	11157224	248789661	460960	8	17883											
NPHP1	4867	broad.mit.edu	37	chr2	110922207	110922207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtctccatcctatttcGcatcagaactattaggtagc	11	12	6	12	1	2	1	1	0	1	1	5	1	3	1	2	1	2	2	2	1	5	5	rs367600757		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:110922207G>A	ENST00000393272.3	-	8	926	c.829C>T	c.(829-831)Cga>Tga	p.R277*	NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.R277*|NPHP1_ENST00000445609.2_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	277					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATCCTATTTCGCATCAGAACT	0.458																																						uc002tfn.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(829-831)Cga>Tga		Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.		G	stop/ARG,,,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	180	177	178		829,,,829	0.5	0.1	2		178	0,8600		0,0,4300	no	stop-gained,intron,intron,stop-gained	NPHP1	NM_000272.3,NM_001128178.1,NM_001128179.1,NM_207181.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	277/734,,,277/733	110922207	1,13005	2203	4300	6503	SO:0001587	stop_gained	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110922207G>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.829C>T	2.37:g.110922207G>A	ENSP00000376953:p.Arg277*					NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R277*|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	p.R277*	NM_207181	NP_997064	O15259	NPHP1_HUMAN			7	923	-			277					O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	c.829C>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252936	0.59212	2.27E-4	0.0	ENSG00000144061	ENST00000316534;ENST00000393272	.	.	.	3.61	0.479	0.16796	.	1.162760	0.06943	U	0.813248	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-0.0047	5.3586	0.16075	0.1198:0.4066:0.4735:0.0	.	.	.	.	X	277	.	ENSP00000313169:R277X	R	-	1	2	NPHP1	110279496	0.000000	0.05858	0.149000	0.22428	0.001000	0.01503	-0.136000	0.10405	0.328000	0.23435	-1.141000	0.01876	CGA		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		A	110922207	G	A	110922207	4	1	251	1	0	0	0	0	0	1	0	0	10579	1095	38	1	1424	1	NPHP1	2	110922207	Nonsense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		110922207	132277166	9	17884											
NCKAP5	344148	broad.mit.edu	37	chr2	133547632	133547632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatcgtgccacgtgtaGgaggagccactggagtactc	8	9	12	12	2	0	0	0	0	0	0	3	3	1	3	3	3	3	2	3	3	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:133547632G>A	ENST00000409261.1	-	13	1429	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	NCKAP5_ENST00000405974.3_Silent_p.S352S|NCKAP5_ENST00000409213.1_Silent_p.S352S|NCKAP5_ENST00000317721.6_Silent_p.S352S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	352	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCACGTGTAGGAGGAGCCAC	0.522																																						uc002ttp.3																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1054-1056)tcC>tcT		Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.							60	64	63					2																	133547632		2048	4202	6250	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133547632G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1056C>T	2.37:g.133547632G>A						NCKAP5_uc002ttq.3_Silent_p.S352S	p.S352S	NM_207363	NP_997246	O14513	NCKP5_HUMAN			12	1430	-			352			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1056C>T	CCDS46418.1																																																																																				0.522	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133547632	G	A	133547632	2	1	251	1	0	0	0	0	0	0	0	1	10223	987	35	3		3	NCKAP5	2	133547632	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08	22625425	133547632	109651741	10	17885											
ITGA6	3655	broad.mit.edu	37	chr2	173356005	173356005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgcgggggctggaCagcaaggcgtctcttatttt	5	11	14	11	3	1	0	0	0	1	0	2	1	1	1	1	4	3	3	1	4	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:173356005C>T	ENST00000264106.6	+	23	3155	c.2952C>T	c.(2950-2952)gaC>gaT	p.D984D	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Silent_p.D984D|ITGA6_ENST00000409532.1_Silent_p.D826D|ITGA6_ENST00000343713.4_Silent_p.D940D|ITGA6_ENST00000409080.1_Silent_p.D945D|ITGA6_ENST00000264107.7_Silent_p.D945D			P23229	ITA6_HUMAN	integrin, alpha 6	984					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGGGCTGGACAGCAAGGCGT	0.473																																						uc002uhp.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(2833-2835)gaC>gaT		Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.							136	139	138					2																	173356005		2203	4300	6503	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173356005C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2952C>T	2.37:g.173356005C>T						ITGA6_uc010zdy.1_Silent_p.D826D|ITGA6_uc002uho.1_Silent_p.D945D|ITGA6_uc010fqm.1_Silent_p.D576D	p.D945D	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		21	3038	+			984					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.2835C>T																																																																																					0.473	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				T	173356005	C	T	173356005	2	4	251	1	0	0	0	0	0	0	0	1	7880	477	17	3		3	ITGA6	2	173356005	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08	39808373	173356005	69843368	11	17886											
PLCL1	5334	broad.mit.edu	37	chr2	198950624	198950624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgagctggccatgatcCgttttgttgttctggatgat	6	16	11	8	1	1	3	0	3	1	0	2	4	2	4	3	2	2	4	3	2	1	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:198950624C>T	ENST00000428675.1	+	2	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R697C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	795	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398																																						uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2383-2385)Cgt>Tgt		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						164	154	158					2																	198950624		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950624C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2383C>T	2.37:g.198950624C>T	ENSP00000402861:p.Arg795Cys					PLCL1_uc002uuv.4_Missense_Mutation_p.R716C	p.R795C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	2781	+			795			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2383C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735897	0.69189	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.70516	-0.49;-0.49	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.100268	0.43260	D	0.000587	D	0.87680	0.6238	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88741	0.3243	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	795;721	Q15111;B4DYZ4	PLCL1_HUMAN;.	C	795;697	ENSP00000402861:R795C;ENSP00000414138:R697C	.	R	+	1	0	PLCL1	198658869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	CGT		0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198950624	C	T	198950624	3	4	251	1	0	0	0	0	1	0	0	0	12039	652	23	2	2389	2	PLCL1	2	198950624	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	25594619	198950624	44248749	12	17887											
EPHA3	2042	broad.mit.edu	37	chr3	89478302	89478302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatggagaatggttccttGgatagtttcctacgtgtaag	10	14	11	6	1	0	1	0	0	0	1	2	3	2	2	2	3	2	3	2	3	5	7			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr3:89478302G>A	ENST00000336596.2	+	12	2346	c.2121G>A	c.(2119-2121)ttG>ttA	p.L707L	EPHA3_ENST00000494014.1_Silent_p.L707L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTTCCTTGGATAGTTTCC	0.323										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2119-2121)ttG>ttA		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							104	109	107					3																	89478302		2203	4299	6502	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478302G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2121G>A	3.37:g.89478302G>A		TSP Lung(6;0.00050)				EPHA3_uc021xbf.1_Silent_p.L707L	p.L707L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2346	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	707			Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2121G>A	CCDS2922.1																																																																																				0.323	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89478302	G	A	89478302	2	1	251	1	0	0	0	0	0	0	0	1	5168	1339	47	3		3	EPHA3	3	89478302	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08		89478302	108544128	13	17888											
PTTG2	23216	broad.mit.edu	37	chr4	37962337	37962337	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgccaaaaagatgacCgagaagactgttaaaacaaa	18	9	7	7	1	1	4	0	1	1	3	1	5	1	4	2	0	2	1	2	0	6	3	rs557030910		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:37962337C>T	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Silent_p.T94T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAAAGATGACCGAGAAGACTG	0.403													C|||	1	0.000199681	0	0	5008	,	,		20601	0		0	False		,,,				2504	0.001					uc011bye.2																			0				breast(1)|endometrium(1)|lung(4)|skin(1)	7						c.(280-282)acC>acT		Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.							85	95	91					4																	37962337		2203	4299	6502	SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962337C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53793C>T	4.37:g.37962337C>T						TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	p.T94T	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN			0	282	+			94					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.282C>T	CCDS33972.1																																																																																				0.403	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	37962337	C	T	37962337	1	4	251	0	1	0	0	0	0	0	0	0	12821	639	23	2		2	PTTG2	4	37962337	Intron	SNP	C	TCGA-41-6646-01A-11D-1845-08		37962337	153191939	14	17889											
SHROOM3	57619	broad.mit.edu	37	chr4	77661478	77661478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggagccatctggacCggcaggtttcctacccgcgg	6	7	13	15	4	1	0	0	0	1	0	3	2	2	2	5	5	2	2	5	5	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:77661478C>T	ENST00000296043.6	+	5	3105	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	718					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATCTGGACCGGCAGGTTTC	0.677																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2152-2154)Cgg>Tgg		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							43	53	49					4																	77661478		2170	4255	6425	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661478C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2152C>T	4.37:g.77661478C>T	ENSP00000296043:p.Arg718Trp					SHROOM3_uc011cbz.1_Missense_Mutation_p.R542W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R593W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R496W	p.R718W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	3105	+			718					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2152C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147278	0.37923	.	.	ENSG00000138771	ENST00000296043	T	0.34472	1.36	5.65	0.37	0.16160	.	0.388239	0.22949	N	0.053685	T	0.29288	0.0729	M	0.65975	2.015	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.30504	-0.9976	10	0.72032	D	0.01	-18.5867	2.8446	0.05539	0.3785:0.3706:0.1502:0.1007	.	542;718;496	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	718	ENSP00000296043:R718W	ENSP00000296043:R718W	R	+	1	2	SHROOM3	77880502	0.049000	0.20398	0.952000	0.39060	0.002000	0.02628	-0.226000	0.09139	0.435000	0.26365	-0.264000	0.10439	CGG		0.677	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77661478	C	T	77661478	3	4	251	1	0	0	0	0	1	0	0	0	14295	643	23	2	2170	2	SHROOM3	4	77661478	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	39699141	77661478	113492798	15	17890											
HNRPDL	9987	broad.mit.edu	37	chr4	83348672	83348672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgataaaacaaaatcctcTtctttcatttgtttttgtat	11	20	4	6	0	3	1	1	1	2	0	4	1	4	1	1	0	1	2	1	0	5	7			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:83348672T>C	ENST00000295470.5	-	4	995	c.820A>G	c.(820-822)Aga>Gga	p.R274G	HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.R155G|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.R274G|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.R155G	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	274	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CAAAATCCTCTTCTTTCATTT	0.333																																						uc003hmr.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(820-822)Aga>Gga		Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.							76	74	75					4																	83348672		2203	4299	6502	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83348672T>C	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.820A>G	4.37:g.83348672T>C	ENSP00000295470:p.Arg274Gly					HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.R274G	p.R274G	NM_031372	NP_112740	O14979	HNRDL_HUMAN			3	1355	-		Hepatocellular(203;0.114)	274			RRM 2.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.820A>G	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	21.1	4.093708	0.76870	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.77750	-1.12;-1.12;-1.12	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.93241	3.395	0.80722	D	1	D;D	0.65815	0.995;0.991	D;D	0.70487	0.969;0.949	D	0.93140	0.6540	10	0.87932	D	0	.	16.1371	0.81494	0.0:0.0:0.0:1.0	.	155;274	O14979-3;O14979	.;HNRDL_HUMAN	G	274;274;155	ENSP00000295470:R274G;ENSP00000422040:R274G;ENSP00000338552:R155G	ENSP00000295470:R274G	R	-	1	2	HNRPDL	83567696	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.034000	0.49751	2.271000	0.75665	0.459000	0.35465	AGA		0.333	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		C	83348672	T	C	83348672	3	2	251	1	0	0	0	0	1	0	0	0	7276	1617	56	4	458	4	HNRPDL	4	83348672	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	5687194	83348672	107805604	16	17891											
CLGN	1047	broad.mit.edu	37	chr4	141313760	141313760	+	Frame_Shift_Del	DEL	A	A	-																															ctttacttttcttggccaacAaaatgaagtaattaatgcta																										TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:141313760delA	ENST00000325617.5	-	12	1911	c.1471delT	c.(1471-1473)tgtfs	p.C491fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.C491fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.C491fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	491					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGGCCAACAAAATGAAGTA	0.348																																						uc011chi.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1471-1473)tgtfs		Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.							65	63	64					4																	141313760		2203	4300	6503	SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141313760delA	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1471delT	4.37:g.141313760delA	ENSP00000326699:p.Cys491fs					CLGN_uc003iii.3_Frame_Shift_Del_p.C491fs	p.C491fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN			12	1689	-	all_hematologic(180;0.162)		491					B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.1471delT	CCDS3751.1																																																																																				0.348	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		-	141313760	A	-	141313760	7	5	251	1	0	1	0	1	0	0	0	0	3524	130	5	0	377	0	CLGN	4	141313760	Frame_Shift_Del	DEL	A	TCGA-41-6646-01A-11D-1845-08	57965088	141313760	49840516	17	17892											
FGG	2266	broad.mit.edu	37	chr4	155533209	155533209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggattataagtgagttggaTtgcttttatcagctgtttga	10	17	11	3	0	1	2	1	2	0	0	1	4	1	4	0	2	2	4	0	2	3	7			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:155533209T>C	ENST00000336098.3	-	3	306	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	FGG_ENST00000405164.1_Missense_Mutation_p.I90V|FGG_ENST00000404648.3_Missense_Mutation_p.I90V|FGG_ENST00000407946.1_Missense_Mutation_p.I90V	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	90					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGAGTTGGATTGCTTTTATC	0.313																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(268-270)Atc>Gtc		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						188	172	178					4																	155533209		2202	4299	6501	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533209T>C		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.268A>G	4.37:g.155533209T>C	ENSP00000336829:p.Ile90Val					FGG_uc003iog.3_Missense_Mutation_p.I90V	p.I90V	NM_021870	NP_068656	P02679	FIBG_HUMAN			2	409	-	all_hematologic(180;0.215)	Renal(120;0.0458)	90					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.268A>G	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	6.203	0.405652	0.11754	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	6.17	4.98	0.66077	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.268845	0.48286	D	0.000194	T	0.69088	0.3072	M	0.72894	2.215	0.41468	D	0.988082	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.12837	0.004;0.008;0.008;0.004	T	0.64381	-0.6421	10	0.30078	T	0.28	.	13.7951	0.63166	0.0:0.0:0.1278:0.8722	.	90;90;90;90	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	V	90	ENSP00000384860:I90V;ENSP00000384101:I90V;ENSP00000336829:I90V;ENSP00000384552:I90V	ENSP00000336829:I90V	I	-	1	0	FGG	155752659	1.000000	0.71417	0.446000	0.26920	0.063000	0.16089	5.252000	0.65445	1.136000	0.42199	-0.313000	0.08912	ATC		0.313	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		C	155533209	T	C	155533209	3	2	251	1	0	0	0	0	1	0	0	0	5870	1493	52	4	1140	4	FGG	4	155533209	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	14219449	155533209	35621067	18	17893											
SPOCK3	50859	broad.mit.edu	37	chr4	168155201	168155201	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattgtggtgagccattgttTatcatccagaaaattaccgc	11	13	9	8	1	1	2	1	1	0	1	2	3	2	2	3	1	2	1	3	1	4	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:168155201T>A	ENST00000357154.3	-	2	261	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000534949.1_Silent_p.I2I|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.K42*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	42					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AGCCATTGTTTATCATCCAGA	0.597																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(160-162)Aaa>Taa		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							62	65	64					4																	168155201		2203	4300	6503	SO:0001587	stop_gained	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:168155201T>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.124A>T	4.37:g.168155201T>A	ENSP00000349677:p.Lys42*					SPOCK3_uc021xuf.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Nonsense_Mutation_p.K42*|SPOCK3_uc011cju.1_Silent_p.I2I|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.K42*|SPOCK3_uc003irk.4_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjw.1_Non-coding_Transcript	p.K54*	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	0	217	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	42					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Nonsense_Mutation	SNP	ENST00000357154.3	37	c.160A>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833310	0.91036	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000512681;ENST00000511269;ENST00000541637;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	.	.	.	4.19	-0.0243	0.13939	.	0.203395	0.31177	N	0.008112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.2994	6.6651	0.23037	0.0:0.0803:0.2906:0.6291	.	.	.	.	X	42	.	ENSP00000349677:K42X	K	-	1	0	SPOCK3	168391776	1.000000	0.71417	0.695000	0.30226	0.001000	0.01503	2.240000	0.43088	-0.171000	0.10797	-1.518000	0.00936	AAA		0.597	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			A	168155201	T	A	168155201	4	1	251	1	0	0	0	0	0	1	0	0	15080	1763	61	5	1230	5	SPOCK3	4	168155201	Nonsense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	12621992	168155201	22999075	19	17894											
C5orf33	133686	broad.mit.edu	37	chr5	36195277	36195279	+	In_Frame_Del	DEL	TCT	TCT	-																															gaagcacagttcgaagctcaTcttctttattgatcatcatc																								rs561110793		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:36195277_36195279delTCT	ENST00000381937.4	-	12	1295_1297	c.1296_1298delAGA	c.(1294-1299)gaagat>gat	p.E432del	NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000514504.1_In_Frame_Del_p.E400del|NADK2_ENST00000282512.3_In_Frame_Del_p.E269del|NADK2_ENST00000397338.1_In_Frame_Del_p.E269del|NADK2_ENST00000506945.1_In_Frame_Del_p.E291del	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	432					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TCGAAGCTCATCTTCTTTATTGA	0.399																																						uc003jkf.4																			0				NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						c.(1294-1299)gaagat>gat		Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	133686						NAD+ kinase activity	g.chr5:36195277_36195279delTCT	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1296_1298delAGA	5.37:g.36195280_36195282delTCT	ENSP00000371362:p.Glu432del					NADKD1_uc003jke.4_Non-coding_Transcript|NADKD1_uc010iux.3_In_Frame_Del_p.E237del|NADKD1_uc003jkg.4_In_Frame_Del_p.E269del|NADKD1_uc011cov.2_In_Frame_Del_p.E291del	p.E432del	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN			11	1296_1298	-			432					B5MC93|Q6UTX5|Q96NM0	In_Frame_Del	DEL	ENST00000381937.4	37	c.1296_1298delAGA	CCDS47197.1																																																																																				0.399	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		-	36195279	TCT	-	36195277	7	5	251	1	0	1	0	1	0	0	0	0	2292	1435	50	0	34	0	C5orf33	5	36195277	In_Frame_Del	DEL	TCT	TCGA-41-6646-01A-11D-1845-08		36195277	144719983	20	17895											
ATOX1	475	broad.mit.edu	37	chr5	151131276	151131276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcactcacctccaagcttaTtgaggacccgagagacagct	11	8	8	14	1	2	2	2	1	0	1	3	5	3	3	3	1	2	2	3	1	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:151131276T>C	ENST00000524142.1	-	3	428	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ATOX1_ENST00000313115.6_Missense_Mutation_p.N24S|CTB-113P19.3_ENST00000518182.1_RNA|ATOX1_ENST00000521264.1_Missense_Mutation_p.N29S|ATOX1_ENST00000522710.1_Missense_Mutation_p.N24S|ATOX1_ENST00000520382.1_Missense_Mutation_p.N15S|ATOX1_ENST00000522314.1_Missense_Mutation_p.N15S			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	24	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)|copper-dependent protein binding (GO:0032767)|metallochaperone activity (GO:0016530)						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCAAGCTTATTGAGGACCCG	0.527																																						uc003luk.3																			0											c.(70-72)aAt>aGt		Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.							52	55	54					5																	151131276		2099	4226	6325	SO:0001583	missense	475				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding	g.chr5:151131276T>C	U70660	CCDS47317.1	5q32	2013-05-01	2013-05-01			ENSG00000177556			798	protein-coding gene	gene with protein product		602270	"ATX1 (antioxidant protein 1, yeast) homolog 1", "ATX1 antioxidant protein 1 homolog (yeast)"			9083055	Standard	NM_004045		Approved	HAH1	uc003luk.3	O00244		ENST00000524142.1:c.71A>G	5.37:g.151131276T>C	ENSP00000430598:p.Asn24Ser						p.N24S	NM_004045	NP_004036	O00244	ATOX1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		1	169	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	24			HMA.		A8KAJ8|D3DQI2|Q2M1R6|Q56AP3	Missense_Mutation	SNP	ENST00000524142.1	37	c.71A>G	CCDS47317.1	.	.	.	.	.	.	.	.	.	.	T	3.920	-0.018244	0.07681	.	.	ENSG00000177556	ENST00000521264;ENST00000520382;ENST00000522314;ENST00000524142;ENST00000313115;ENST00000522710	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.69	4.52	0.55395	Heavy metal-associated domain, HMA (3);Heavy-metal-associated, conserved site (1);	0.450191	0.23799	N	0.044442	T	0.63827	0.2544	.	.	.	0.33242	D	0.557395	B	0.10296	0.003	B	0.12837	0.008	T	0.58434	-0.7637	9	0.02654	T	1	-31.0456	9.6596	0.39947	0.0:0.0803:0.0:0.9197	.	24	O00244	ATOX1_HUMAN	S	29;15;15;24;24;24	ENSP00000429366:N29S;ENSP00000429982:N15S;ENSP00000430028:N15S;ENSP00000430598:N24S;ENSP00000316854:N24S;ENSP00000429814:N24S	ENSP00000316854:N24S	N	-	2	0	ATOX1	151111469	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.250000	0.43178	0.973000	0.38340	0.528000	0.53228	AAT		0.527	ATOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373823.2	NM_004045		C	151131276	T	C	151131276	3	2	251	1	0	0	0	0	1	0	0	0	1115	1493	52	4	143	4	ATOX1	5	151131276	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	114935999	151131276	29783984	21	17896											
CSNK2B	1460	broad.mit.edu	37	chr6	31637272	31637272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaagagacctgccaacCagtttgtgcccaggtaggga	10	6	13	12	0	0	1	0	0	0	1	0	3	0	2	5	3	3	2	5	3	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:31637272C>T	ENST00000375882.2	+	6	700	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	CSNK2B_ENST00000375866.2_Nonsense_Mutation_p.Q182*|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375865.2_Nonsense_Mutation_p.Q182*|CSNK2B-LY6G5B-1181_ENST00000375880.2_Nonsense_Mutation_p.Q182*|CSNK2B_ENST00000375885.4_Nonsense_Mutation_p.Q201*|LY6G5B_ENST00000375864.4_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	182					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ACCTGCCAACCAGTTTGTGCC	0.572																																						uc003nvr.1																			0				central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						c.(544-546)Cag>Tag		Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.							101	99	100					6																	31637272		2203	4300	6503	SO:0001587	stop_gained	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31637272C>T	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.544C>T	6.37:g.31637272C>T	ENSP00000365042:p.Gln182*					LY6G5B_uc003nvt.1_5'Flank	p.Q182*	NM_001320	NP_001311	P67870	CSK2B_HUMAN			5	884	+			182					B0UXA9|P07312|P13862|Q4VX47	Nonsense_Mutation	SNP	ENST00000375882.2	37	c.544C>T	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	38	6.692780	0.97768	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.65	5.65	0.86999	.	0.139601	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-20.287	17.2626	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	201;182;182;182;182	.	ENSP00000365025:Q182X	Q	+	1	0	CSNK2B	31745251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.964000	0.76061	2.941000	0.99782	0.655000	0.94253	CAG		0.572	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		T	31637272	C	T	31637272	4	4	251	1	0	0	0	0	0	1	0	0	3959	595	21	3	562	3	CSNK2B	6	31637272	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		31637272	139477795	22	17897											
UNC5CL	222643	broad.mit.edu	37	chr6	40996200	40996200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccgtgtgtcccactcaggTagttctggatggcggaggcg	5	9	16	11	4	2	0	1	0	1	0	3	2	3	2	2	5	0	2	2	5	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:40996200T>C	ENST00000373164.1	-	8	1529	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.Y490C			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	490	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCAGGTAGTTCTGGAT	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003opi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1468-1470)tAc>tGc		Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.							27	25	26					6																	40996200		2181	4256	6437	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996200T>C	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1469A>G	6.37:g.40996200T>C	ENSP00000362258:p.Tyr490Cys		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897		p.Y490C	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			8	1568	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		490			Death.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1469A>G	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072746	0.55646	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	D;D	0.85629	-2.01;-2.01	4.53	3.27	0.37495	Death (3);DEATH-like (2);	0.000000	0.38663	N	0.001614	T	0.71829	0.3386	N	0.14661	0.345	0.36039	D	0.839944	D	0.63880	0.993	P	0.57204	0.815	T	0.74731	-0.3566	10	0.42905	T	0.14	-27.5298	6.6729	0.23078	0.2111:0.0:0.0:0.7889	.	490	Q8IV45	UN5CL_HUMAN	C	490	ENSP00000244565:Y490C;ENSP00000362258:Y490C	ENSP00000244565:Y490C	Y	-	2	0	UNC5CL	41104178	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	1.239000	0.32719	1.682000	0.51000	0.460000	0.39030	TAC		0.667	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		C	40996200	T	C	40996200	3	2	251	1	0	0	0	0	1	0	0	0	16991	1638	57	4	91	4	UNC5CL	6	40996200	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	9358928	40996200	130118867	23	17898											
TRERF1	55809	broad.mit.edu	37	chr6	42231242	42231242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggagctgtggtggcggcGgaggcggaggcggaggcggc	5	3	26	7	5	0	0	0	0	0	0	0	5	0	4	0	11	1	1	0	11	0	0	rs377404285|rs371824643|rs566959555	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:42231242G>A	ENST00000372922.4	-	8	2262	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.P567L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	567	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P569_P570delPP(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			tggtggcggcggaggcggagg	0.642																																						uc003ose.2																			1	Deletion - In frame(1)	p.P567P(1)|p.P569_P570delPP(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1699-1701)cCg>cTg		Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	41	41	41		1700	1.2	1	6		41	0,8600		0,0,4300	no	missense	TRERF1	NM_033502.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	567/1201	42231242	1,13005	2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231242G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1700C>T	6.37:g.42231242G>A	ENSP00000362013:p.Pro567Leu					TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P567L	p.P567L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	2263	-	Colorectal(47;0.196)		567			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1700C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951531	0.53186	2.27E-4	0.0	ENSG00000124496	ENST00000541110;ENST00000372922	D;D	0.85088	-1.94;-1.94	2.16	1.24	0.21308	.	0.404916	0.17792	U	0.161858	T	0.55986	0.1955	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55717	-0.8097	10	0.38643	T	0.18	-3.2339	4.0058	0.09600	0.2215:0.0:0.7785:0.0	.	567;567	Q05GC8;Q96PN7	.;TREF1_HUMAN	L	567	ENSP00000439689:P567L;ENSP00000362013:P567L	ENSP00000362013:P567L	P	-	2	0	TRERF1	42339220	0.993000	0.37304	0.991000	0.47740	0.949000	0.60115	0.101000	0.15251	1.194000	0.43101	0.289000	0.19496	CCG		0.642	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		A	42231242	G	A	42231242	3	1	251	1	0	0	0	0	1	0	0	0	16472	1116	39	2	1946	2	TRERF1	6	42231242	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1235042	42231242	128883825	24	17899											
EIF3B	8662	broad.mit.edu	37	chr7	2412424	2412424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaacgggaagattgaaCtcatcagtaagtaacctggt	17	8	9	7	1	2	2	2	1	0	1	2	3	2	3	1	2	4	2	1	2	7	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:2412424C>G	ENST00000360876.4	+	12	1860	c.1804C>G	c.(1804-1806)Ctc>Gtc	p.L602V	EIF3B_ENST00000397011.2_Missense_Mutation_p.L602V	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GAAGATTGAACTCATCAGTAA	0.507																																						uc003slx.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1804-1806)Ctc>Gtc		Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.							92	82	85					7																	2412424		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2412424C>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1804C>G	7.37:g.2412424C>G	ENSP00000354125:p.Leu602Val					EIF3B_uc003sly.3_Missense_Mutation_p.L602V|EIF3B_uc003sma.3_Missense_Mutation_p.L330V	p.L602V	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	11	1887	+		Ovarian(82;0.0253)	602						Missense_Mutation	SNP	ENST00000360876.4	37	c.1804C>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233142	0.79688	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05580	3.42;3.42	5.55	5.55	0.83447	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.83774	2.66	0.80722	D	1	P	0.52692	0.955	P	0.58660	0.843	T	0.00634	-1.1634	10	0.49607	T	0.09	-35.1027	19.4964	0.95075	0.0:1.0:0.0:0.0	.	602	P55884	EIF3B_HUMAN	V	602;602;602;526	ENSP00000354125:L602V;ENSP00000380206:L602V	ENSP00000316638:L602V	L	+	1	0	EIF3B	2378950	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.903000	0.69877	2.610000	0.88304	0.655000	0.94253	CTC		0.507	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			G	2412424	C	G	2412424	3	3	251	1	0	0	0	0	1	0	0	0	5013	565	20	5	1850	5	EIF3B	7	2412424	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		2412424	156726239	25	17900											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764391	99764391	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagggctggtcgtagggAtggggccgagggctgtcgga	6	6	22	7	4	0	0	0	0	0	0	2	4	0	3	1	8	0	3	1	8	2	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:99764391A>T	ENST00000360039.4	-	3	555	c.163T>A	c.(163-165)Tcc>Acc	p.S55T	GAL3ST4_ENST00000423751.1_Intron|GPC2_ENST00000471050.1_5'Flank|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S55T|GAL3ST4_ENST00000411994.1_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	55					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCGTAGGGATGGGGCCGAG	0.622																																						uc003utt.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(163-165)Tcc>Acc		Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.							26	29	28					7																	99764391		2196	4296	6492	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99764391A>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.163T>A	7.37:g.99764391A>T	ENSP00000353142:p.Ser55Thr					GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.S55T	p.S55T	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			1	1180	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		55					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.163T>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	A	6.393	0.440646	0.12104	.	.	ENSG00000197093	ENST00000413800;ENST00000360039	D;D	0.99762	-6.67;-6.67	5.3	2.56	0.30785	.	0.336648	0.23902	U	0.043438	D	0.97139	0.9065	N	0.05124	-0.11	0.26264	N	0.978522	B	0.13594	0.008	B	0.13407	0.009	D	0.96069	0.9044	10	0.12103	T	0.63	-7.4535	4.8154	0.13363	0.6056:0.0:0.0874:0.307	.	55	Q96RP7	G3ST4_HUMAN	T	55	ENSP00000400451:S55T;ENSP00000353142:S55T	ENSP00000353142:S55T	S	-	1	0	GAL3ST4	99602327	0.991000	0.36638	0.518000	0.27811	0.059000	0.15707	2.028000	0.41088	0.848000	0.35191	0.379000	0.24179	TCC		0.622	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		T	99764391	A	T	99764391	3	4	251	1	0	0	0	0	1	0	0	0	6200	333	12	5	1305	5	GAL3ST4	7	99764391	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	97351967	99764391	59374272	26	17901											
DOCK4	9732	broad.mit.edu	37	chr7	111540437	111540437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaacacttactggaacaAtgccgaaactcgaagcggat	16	6	8	11	3	0	0	0	0	0	0	1	4	0	2	2	2	6	0	2	2	6	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:111540437A>C	ENST00000437633.1	-	15	1729	c.1473T>G	c.(1471-1473)caT>caG	p.H491Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.H491Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	491	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACTGGAACAATGCCGAAACT	0.473																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1471-1473)caT>caG		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							67	66	66					7																	111540437		2025	4187	6212	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111540437A>C		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1473T>G	7.37:g.111540437A>C	ENSP00000404179:p.His491Gln					DOCK4_uc003vfx.3_Missense_Mutation_p.H491Q|DOCK4_uc003vga.1_Missense_Mutation_p.H96Q	p.H491Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			14	1742	-		Acute lymphoblastic leukemia(1;0.0441)	491			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1473T>G	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	3.995738|3.995738	0.74703|0.74703	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.17854|.	2.25;2.25|.	6.04|6.04	1.2|1.2	0.21068|0.21068	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74951|0.74951	0.3784|0.3784	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	T|T	0.74112|0.74112	-0.3770|-0.3770	10|5	0.87932|.	D|.	0|.	.|.	8.845|8.845	0.35164|0.35164	0.5897:0.0:0.4103:0.0|0.5897:0.0:0.4103:0.0	.|.	491;491|.	Q149N2;Q8N1I0|.	.;DOCK4_HUMAN|.	Q|S	479;491;491;479;490|479	ENSP00000410746:H491Q;ENSP00000404179:H491Q|.	ENSP00000345432:H479Q|.	H|I	-|-	3|2	2|0	DOCK4|DOCK4	111327673|111327673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	1.281000|1.281000	0.33214|0.33214	0.187000|0.187000	0.20147|0.20147	-0.371000|-0.371000	0.07208|0.07208	CAT|ATT		0.473	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		C	111540437	A	C	111540437	3	2	251	1	0	0	0	0	1	0	0	0	4689	98	4	5	4579	5	DOCK4	7	111540437	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	11776046	111540437	47598226	27	17902											
DLGAP2	9228	broad.mit.edu	37	chr8	1581155	1581155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggctactcccaagatgacGaatgtattcccatgatgaca	12	9	8	12	2	0	4	0	3	0	1	2	5	2	4	3	1	1	2	3	1	4	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:1581155G>A	ENST00000421627.2	+	5	1647	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	584					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.E527K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGATGACGAATGTATTCC	0.547																																						uc003wpl.3																			1	Substitution - Missense(1)	p.E527K(1)	large_intestine(1)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1513-1515)Gaa>Aaa		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							113	116	115					8																	1581155		2137	4245	6382	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1581155G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1513G>A	8.37:g.1581155G>A	ENSP00000400258:p.Glu505Lys					DLGAP2_uc003wpm.3_Missense_Mutation_p.E505K	p.E505K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	4	1610	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	584					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1513G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078947	0.94050	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.22945	1.93	5.06	5.06	0.68205	.	0.047705	0.85682	D	0.000000	T	0.35219	0.0924	M	0.71581	2.175	0.49798	D	0.999822	D;P	0.54397	0.966;0.943	B;B	0.43018	0.405;0.229	T	0.42732	-0.9434	10	0.87932	D	0	-11.4958	18.7837	0.91946	0.0:0.0:1.0:0.0	.	584;584	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	K	550;505	ENSP00000400258:E505K	ENSP00000348366:E550K	E	+	1	0	DLGAP2	1568562	1.000000	0.71417	0.791000	0.31998	0.818000	0.46254	9.263000	0.95617	2.475000	0.83589	0.555000	0.69702	GAA		0.547	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1581155	G	A	1581155	3	1	251	1	0	0	0	0	1	0	0	0	4560	1059	37	2	1527	2	DLGAP2	8	1581155	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		1581155	144782867	28	17903											
NUDCD1	84955	broad.mit.edu	37	chr8	110308796	110308796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttttcctaaggcagtGtcctaaaaagaccaaacatt	13	11	8	9	1	0	1	0	0	0	1	2	1	2	1	3	2	1	2	3	2	5	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:110308796G>C	ENST00000239690.4	-	3	650	c.276C>G	c.(274-276)gaC>gaG	p.D92E	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D63E|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTAAGGCAGTGTCCTAAAAAG	0.403																																						uc003ynb.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(274-276)gaC>gaG		Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.							94	85	88					8																	110308796		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110308796G>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.276C>G	8.37:g.110308796G>C	ENSP00000239690:p.Asp92Glu					NUDCD1_uc003yna.3_Missense_Mutation_p.D63E|NUDCD1_uc010mcl.3_Missense_Mutation_p.D5E|NUDCD1_uc010mcm.1_Missense_Mutation_p.D5E	p.D92E	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		2	387	-	all_neural(195;0.219)		92						Missense_Mutation	SNP	ENST00000239690.4	37	c.276C>G	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453566	0.26161	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18174	2.23;2.25	5.84	-2.36	0.06663	.	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	L	0.43923	1.385	0.40327	D	0.978888	B;B;B	0.21309	0.054;0.002;0.005	B;B;B	0.24269	0.052;0.004;0.004	T	0.30736	-0.9968	10	0.11794	T	0.64	-8.7778	12.1704	0.54155	0.6072:0.0:0.3928:0.0	.	5;92;63	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	E	92;63	ENSP00000239690:D92E;ENSP00000410707:D63E	ENSP00000239690:D92E	D	-	3	2	NUDCD1	110377972	0.990000	0.36364	0.955000	0.39395	0.981000	0.71138	0.146000	0.16180	-0.576000	0.05974	-0.229000	0.12294	GAC		0.403	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		C	110308796	G	C	110308796	3	2	251	1	0	0	0	0	1	0	0	0	10722	1368	48	5	1507	5	NUDCD1	8	110308796	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	108727641	110308796	36055226	29	17904											
C9orf103	414328	broad.mit.edu	37	chr9	86258531	86258531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgaggtcatctctggaCgcttactcaaaagagaggga	11	10	12	8	2	3	2	2	1	1	1	4	5	3	4	0	3	1	2	0	3	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr9:86258531C>T	ENST00000376419.4	+	5	404	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Missense_Mutation_p.R177C|IDNK_ENST00000277124.8_Missense_Mutation_p.R88C|IDNK_ENST00000405990.3_3'UTR	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	134					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										CATCTCTGGACGCTTACTCAA	0.507																																						uc004amu.2																			0											c.(400-402)Cgc>Tgc		Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA.							85	84	84					9																	86258531		2203	4300	6503	SO:0001583	missense	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258531C>T	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"chromosome 9 open reading frame 103"	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.400C>T	9.37:g.86258531C>T	ENSP00000365601:p.Arg134Cys					IDNK_uc004amt.2_Non-coding_Transcript|IDNK_uc010mpv.2_3'UTR	p.R134C	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN			4	454	+			134					A5PLN6|Q5T6J6	Missense_Mutation	SNP	ENST00000376419.4	37	c.400C>T	CCDS35048.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032992	0.75504	.	.	ENSG00000148057	ENST00000277124;ENST00000530832;ENST00000376419;ENST00000454393	T;T;T;T	0.66280	-0.2;1.51;-0.2;-0.2	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91300	0.5066	10	0.87932	D	0	-13.5258	14.0171	0.64531	0.1512:0.8488:0.0:0.0	.	134	Q5T6J7	GNTK_HUMAN	C	88;88;134;177	ENSP00000277124:R88C;ENSP00000436381:R88C;ENSP00000365601:R134C;ENSP00000403290:R177C	ENSP00000277124:R88C	R	+	1	0	C9orf103	85448351	0.988000	0.35896	1.000000	0.80357	0.921000	0.55340	2.621000	0.46418	2.531000	0.85337	0.650000	0.86243	CGC		0.507	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		T	86258531	C	T	86258531	3	4	251	1	0	0	0	0	1	0	0	0	2446	536	19	1	272	1	C9orf103	9	86258531	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		86258531	54954900	30	17905											
C9orf5	23731	broad.mit.edu	37	chr9	111822726	111822726	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttatctcctagaatttTatggagctagaaaaaaacac	16	11	5	9	0	1	2	0	0	1	2	2	3	1	3	2	1	2	1	2	1	8	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr9:111822726T>A	ENST00000374586.3	-	11	1661	c.1630A>T	c.(1630-1632)Aaa>Taa	p.K544*		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	544						integral component of membrane (GO:0016021)											CCTAGAATTTTATGGAGCTAG	0.343																																						uc004bdt.4																			0											c.(1630-1632)Aaa>Taa		Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.							101	101	101					9																	111822726		1822	4080	5902	SO:0001587	stop_gained	23731					integral to membrane		g.chr9:111822726T>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1630A>T	9.37:g.111822726T>A	ENSP00000363714:p.Lys544*					TMEM245_uc022bln.1_Nonsense_Mutation_p.K96*|TMEM245_uc004bds.4_Non-coding_Transcript	p.K544*	NM_032012	NP_114401	Q9H330	CI005_HUMAN			10	1662	-			544					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Nonsense_Mutation	SNP	ENST00000374586.3	37	c.1630A>T	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	39|39	7.762989|7.762989	0.98477|0.98477	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	.|.	.|.	.|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-13.6208|-13.6208	16.5932|16.5932	0.84781|0.84781	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	544|136	.|.	ENSP00000223608:K544X|.	K|X	-|-	1|2	0|2	C9orf5|C9orf5	110862547|110862547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.812000|7.812000	0.86109|0.86109	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	AAA|TAA		0.343	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		A	111822726	T	A	111822726	4	1	251	1	0	0	0	0	0	1	0	0	2486	1763	61	5	1041	5	C9orf5	9	111822726	Nonsense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	25564195	111822726	29390705	31	17906											
NEBL	10529	broad.mit.edu	37	chr10	21185902	21185902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatcgctaatgagttcCgtgcattttctggccaattc	8	15	7	11	2	1	1	0	1	1	0	4	1	2	1	2	1	2	3	2	1	3	6			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr10:21185902C>T	ENST00000377122.4	-	2	534	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Silent_p.T46T|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	46					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(136-138)acG>acA		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							151	153	152					10																	21185902		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21185902C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.138G>A	10.37:g.21185902C>T						NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.T46T	NM_006393	NP_006384	O76041	NEBL_HUMAN			1	535	-			46					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.138G>A	CCDS7134.1																																																																																				0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21185902	C	T	21185902	2	4	251	1	0	0	0	0	0	0	0	1	10303	639	23	2		2	NEBL	10	21185902	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08		21185902	114348845	32	17907											
OR52E2	119678	broad.mit.edu	37	chr11	5080175	5080175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcatgagtaggaagaCggaaaacagcacaaagaata	18	5	12	6	1	1	3	1	1	0	2	1	5	1	5	0	3	2	3	0	3	7	3	rs141087990	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:5080175C>T	ENST00000321522.2	-	1	682	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTAGGAAGACGGAAAACAGC	0.398																																						uc010qyw.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(682-684)cGt>cAt		Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.		C	HIS/ARG	0,4402		0,0,2201	88	79	82		683	-5.7	0.7	11	dbSNP_134	82	3,8593	3.0+/-9.4	0,3,4295	yes	missense	OR52E2	NM_001005164.2	29	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	benign	228/326	5080175	3,12995	2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080175C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.683G>A	11.37:g.5080175C>T	ENSP00000322088:p.Arg228His						p.R228H	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	0	683	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	228						Missense_Mutation	SNP	ENST00000321522.2	37	c.683G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	2.031	-0.422460	0.04734	0.0	3.49E-4	ENSG00000176787	ENST00000321522	T	0.00262	8.4	3.76	-5.65	0.02459	GPCR, rhodopsin-like superfamily (1);	0.259165	0.25726	N	0.028706	T	0.00144	0.0004	L	0.46614	1.455	0.09310	N	0.999997	B	0.15930	0.015	B	0.13407	0.009	T	0.44329	-0.9335	10	0.17832	T	0.49	.	12.8496	0.57850	0.0:0.5402:0.0:0.4598	.	228	Q8NGJ4	O52E2_HUMAN	H	228	ENSP00000322088:R228H	ENSP00000322088:R228H	R	-	2	0	OR52E2	5036751	0.000000	0.05858	0.732000	0.30844	0.183000	0.23260	-2.490000	0.00975	-1.319000	0.02286	-0.866000	0.03004	CGT		0.398	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		T	5080175	C	T	5080175	3	4	251	1	0	0	0	0	1	0	0	0	11115	536	19	1	297	1	OR52E2	11	5080175	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		5080175	129926341	33	17908											
OR5W2	390148	broad.mit.edu	37	chr11	55681607	55681607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcatctgctattcccAccagataaaccccagtcaag	14	8	5	14	0	3	1	2	0	1	1	4	1	4	1	4	0	3	2	4	0	5	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:55681607A>G	ENST00000344514.1	-	1	451	c.452T>C	c.(451-453)gTg>gCg	p.V151A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTATTCCCACCAGATAAAC	0.458																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(451-453)gTg>gCg		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							75	66	69					11																	55681607		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681607A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.452T>C	11.37:g.55681607A>G	ENSP00000342448:p.Val151Ala						p.V151A	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	452	-			151						Missense_Mutation	SNP	ENST00000344514.1	37	c.452T>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	3.822	-0.037466	0.07497	.	.	ENSG00000187612	ENST00000344514	T	0.38240	1.15	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.686352	0.11902	N	0.518488	T	0.20414	0.0491	N	0.10629	0.01	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.18461	-1.0336	10	0.16896	T	0.51	.	11.1186	0.48275	1.0:0.0:0.0:0.0	.	151	Q8NH69	OR5W2_HUMAN	A	151	ENSP00000342448:V151A	ENSP00000342448:V151A	V	-	2	0	OR5W2	55438183	0.002000	0.14202	0.003000	0.11579	0.618000	0.37518	1.080000	0.30779	1.874000	0.54306	0.448000	0.29417	GTG		0.458	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		G	55681607	A	G	55681607	3	3	251	1	0	0	0	0	1	0	0	0	11185	159	6	4	482	4	OR5W2	11	55681607	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	50601432	55681607	79324909	34	17909											
GLYATL1	92292	broad.mit.edu	37	chr11	58722269	58722269	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgatgacatggattcataCacaaacgtatatcgtatgtt	14	13	7	7	2	1	2	1	2	0	0	2	3	1	3	0	1	2	3	0	1	5	6			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:58722269C>A	ENST00000317391.4	+	6	553	c.213C>A	c.(211-213)taC>taA	p.Y71*	GLYATL1_ENST00000300079.5_Nonsense_Mutation_p.Y102*|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	71						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGATTCATACACAAACGTAT	0.373																																						uc001nnh.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(304-306)taC>taA		Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	Glycine(DB00145)						94	89	91					11																	58722269		2201	4295	6496	SO:0001587	stop_gained	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722269C>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.213C>A	11.37:g.58722269C>A	ENSP00000322223:p.Tyr71*					GLYATL1_uc001nnf.3_Nonsense_Mutation_p.Y71*|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Nonsense_Mutation_p.Y71*|GLYATL1_uc001nnj.2_Nonsense_Mutation_p.Y71*	p.Y102*	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN			4	356	+			71					A6NDT0|Q7Z510|Q8NAW8	Nonsense_Mutation	SNP	ENST00000317391.4	37	c.306C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322795	0.23994	.	.	ENSG00000166840	ENST00000526351;ENST00000317391;ENST00000532726;ENST00000300079	.	.	.	2.37	-2.8	0.05823	.	0.782658	0.10400	U	0.679322	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.883	0.05653	0.2091:0.4967:0.0:0.2942	.	.	.	.	X	94;71;71;102	.	.	Y	+	3	2	GLYATL1	58478845	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.797000	0.01749	-0.702000	0.05056	0.195000	0.17529	TAC		0.373	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		A	58722269	C	A	58722269	4	1	251	1	0	0	0	0	0	1	0	0	6480	489	17	5	324	5	GLYATL1	11	58722269	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	3040662	58722269	76284247	35	17910											
NPAS4	266743	broad.mit.edu	37	chr11	66192332	66192332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgaggctggcactggCggactagagccacttggagg	8	7	16	10	1	1	2	1	1	0	1	1	4	1	4	1	6	2	3	1	6	1	2	rs552263741		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:66192332C>T	ENST00000311034.2	+	7	2147	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	657					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.G657G(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCACTGGCGGACTAGAGC	0.582																																						uc001ohx.1																			1	Substitution - coding silent(1)	p.G657G(2)	large_intestine(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1969-1971)ggC>ggT		Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.							103	107	106					11																	66192332		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192332C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1971C>T	11.37:g.66192332C>T						NPAS4_uc010rpc.1_Silent_p.G447G	p.G657G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			6	2147	+			657					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1971C>T	CCDS8138.1																																																																																				0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66192332	C	T	66192332	2	4	251	1	0	0	0	0	0	0	0	1	10565	755	27	1		1	NPAS4	11	66192332	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08	7470063	66192332	68814184	36	17911											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020926	73020926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttctgggggctggggcGtgtaccgctcccctagcttt	2	11	17	11	2	1	0	0	0	1	0	2	0	2	0	3	6	2	5	3	6	2	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:73020926G>A	ENST00000263674.3	+	1	1593	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	415					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGGCTGGGGCGTGTACCGCTC	0.657																																						uc001otu.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1243-1245)Gtg>Atg		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.							37	39	38					11																	73020926		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020926G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1243G>A	11.37:g.73020926G>A	ENSP00000263674:p.Val415Met						p.V415M	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			0	1264	+			415					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1243G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800448	0.16397	.	.	ENSG00000110237	ENST00000263674	T	0.54866	0.55	4.43	-1.63	0.08345	.	0.405230	0.18205	N	0.148388	T	0.22898	0.0553	N	0.11560	0.145	0.26065	N	0.981306	B	0.06786	0.001	B	0.08055	0.003	T	0.06162	-1.0842	10	0.27082	T	0.32	-1.8821	1.884	0.03234	0.5023:0.134:0.2115:0.1522	.	415	Q96PE2	ARHGH_HUMAN	M	415	ENSP00000263674:V415M	ENSP00000263674:V415M	V	+	1	0	ARHGEF17	72698574	0.106000	0.21978	0.391000	0.26233	0.816000	0.46133	0.530000	0.23036	-0.000000	0.14550	0.462000	0.41574	GTG		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73020926	G	A	73020926	3	1	251	1	0	0	0	0	1	0	0	0	900	1145	40	1	1245	1	ARHGEF17	11	73020926	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	6828594	73020926	61985590	37	17912											
RECQL	5965	broad.mit.edu	37	chr12	21643134	21643134	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttttttagtacataccAtctgaacataatgctggtaa	14	16	5	6	0	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	7	9			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:21643134A>G	ENST00000444129.2	-	4	861	c.393T>C	c.(391-393)gaT>gaC	p.D131D	RECQL_ENST00000421138.2_Splice_Site_p.D131D	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	131	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTACATACCATCTGAACATA	0.289								Other identified genes with known or suspected DNA repair function																														uc001rex.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.e5+1	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.							88	85	86					12																	21643134		2203	4300	6503	SO:0001630	splice_region_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21643134A>G	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.394+1T>C	12.37:g.21643134A>G						RECQL_uc001rey.3_Splice_Site_p.G132_splice	p.G132_splice	NM_032941	NP_116559	P46063	RECQ1_HUMAN			5	742	-			132			Helicase ATP-binding.		A8K6G2	Silent	SNP	ENST00000444129.2	37	c.394_splice	CCDS31756.1																																																																																				0.289	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	Silent	G	21643134	A	G	21643134	5	3	251	1	0	0	0	0	0	0	1	0	13201	231	8	4	1604	4	RECQL	12	21643134	Splice_Site	SNP	A	TCGA-41-6646-01A-11D-1845-08		21643134	112208761	38	17913											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123661241	123661241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaataacttacttggcaCgcgagggtctcacgtgaatt	12	11	10	8	3	1	2	1	2	1	0	2	3	1	2	0	2	2	1	0	2	4	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:123661241C>T	ENST00000606320.1	-	16	2656	c.2450G>A	c.(2449-2451)cGt>cAt	p.R817H	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R787H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R665H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R665H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	817						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACTTGGCACGCGAGGGTCT	0.353																																						uc001uel.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1993-1995)cGt>cAt		Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.							106	103	104					12																	123661241		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123661241C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2450G>A	12.37:g.123661241C>T	ENSP00000475489:p.Arg817His					MPHOSPH9_uc010tal.2_Missense_Mutation_p.R119H|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.R119H	p.R665H	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	11	2102	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		665					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1994G>A		.	.	.	.	.	.	.	.	.	.	C	5.060	0.196661	0.09599	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.31769	1.48;1.49	5.19	-0.392	0.12442	.	0.707775	0.13661	N	0.371592	T	0.22513	0.0543	L	0.57536	1.79	0.18873	N	0.999981	B	0.10296	0.003	B	0.04013	0.001	T	0.30238	-0.9985	10	0.14252	T	0.57	-1.8849	5.2467	0.15500	0.1422:0.4605:0.0:0.3973	.	665	Q99550	MPP9_HUMAN	H	665	ENSP00000303597:R665H;ENSP00000445859:R665H	ENSP00000303597:R665H	R	-	2	0	MPHOSPH9	122227194	0.020000	0.18652	0.967000	0.41034	0.485000	0.33311	-0.221000	0.09202	0.206000	0.20587	0.491000	0.48974	CGT		0.353	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			T	123661241	C	T	123661241	3	4	251	1	0	0	0	0	1	0	0	0	9728	536	19	1	1137	1	MPHOSPH9	12	123661241	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	102018107	123661241	10190654	39	17914											
UGGT2	55757	broad.mit.edu	37	chr13	96578002	96578002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatctgcaataatccagaGagtgactgcagaaattatac	18	9	7	7	0	1	3	0	1	1	2	2	4	2	3	1	0	3	2	1	0	7	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr13:96578002G>A	ENST00000376747.3	-	20	2297	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	743					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATAATCCAGAGAGTGACTGCA	0.308																																						uc001vmt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2227-2229)Ctc>Ttc		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.							58	63	61					13																	96578002		2203	4293	6496	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96578002G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2227C>T	13.37:g.96578002G>A	ENSP00000365938:p.Leu743Phe						p.L743F	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			19	2397	-			743					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2227C>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	3.069	-0.191648	0.06299	.	.	ENSG00000102595	ENST00000376747	T	0.08896	3.04	6.16	-0.691	0.11305	.	0.501649	0.23616	N	0.046285	T	0.02610	0.0079	N	0.10945	0.07	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45160	-0.9280	10	0.10636	T	0.68	-0.0104	0.4102	0.00440	0.2245:0.1847:0.2101:0.3807	.	743	Q9NYU1	UGGG2_HUMAN	F	743	ENSP00000365938:L743F	ENSP00000365938:L743F	L	-	1	0	UGGT2	95376003	0.963000	0.33076	0.995000	0.50966	0.785000	0.44390	0.007000	0.13174	-0.062000	0.13088	-0.172000	0.13284	CTC		0.308	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		A	96578002	G	A	96578002	3	1	251	1	0	0	0	0	1	0	0	0	16939	942	33	3	2403	3	UGGT2	13	96578002	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		96578002	18591876	40	17915											
SLC38A6	145389	broad.mit.edu	37	chr14	61518523	61518525	+	In_Frame_Del	DEL	ATG	ATG	-																															aggccagaaaagctgtaacaAtgatgtttttctccaatttt																								rs530415277		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:61518523_61518525delATG	ENST00000267488.4	+	14	1185_1187	c.1069_1071delATG	c.(1069-1071)atgdel	p.M358del	SLC38A6_ENST00000354886.2_In_Frame_Del_p.M358del|SLC38A6_ENST00000456840.2_In_Frame_Del_p.M335del	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	358					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AGCTGTAACAATGATGTTTTTCT	0.34																																						uc001xfh.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(1069-1071)atgdel		Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61518523_61518525delATG	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1069_1071delATG	14.37:g.61518526_61518528delATG	ENSP00000267488:p.Met358del					SLC38A6_uc001xfg.2_In_Frame_Del_p.M358del|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_In_Frame_Del_p.M335del	p.M358del	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	13	1233_1235	+			358					C9JWA6|Q86SY5	In_Frame_Del	DEL	ENST00000267488.4	37	c.1069_1071delATG	CCDS9751.1																																																																																				0.34	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			-	61518525	ATG	-	61518523	7	5	251	1	0	1	0	1	0	0	0	0	14608	101	4	0	1123	0	SLC38A6	14	61518523	In_Frame_Del	DEL	ATG	TCGA-41-6646-01A-11D-1845-08		61518523	45831017	41	17916											
SERPINA11	256394	broad.mit.edu	37	chr14	94912695	94912695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcaattggccccattttCtcagggtctgtggctgcaga	7	11	13	10	0	2	1	1	0	2	1	3	2	2	2	2	4	2	3	2	4	1	3	rs148183767		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:94912695C>G	ENST00000334708.3	-	3	954	c.890G>C	c.(889-891)aGa>aCa	p.R297T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	297					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCCCATTTTCTCAGGGTCTG	0.562																																						uc001ydd.1																			0		p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(889-891)aGa>aCa		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							87	85	86					14																	94912695		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94912695C>G	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.890G>C	14.37:g.94912695C>G	ENSP00000335024:p.Arg297Thr						p.R297T	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	950	-			297					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.890G>C	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463780	0.26335	.	.	ENSG00000186910	ENST00000334708	D	0.84223	-1.82	5.53	-1.65	0.08291	Serpin domain (3);	0.588815	0.16451	N	0.213858	T	0.70316	0.3210	L	0.28776	0.89	0.09310	N	1	B	0.24618	0.107	B	0.25614	0.062	T	0.54840	-0.8233	10	0.12430	T	0.62	.	7.1264	0.25473	0.0:0.3068:0.383:0.3101	.	297	Q86U17	SPA11_HUMAN	T	297	ENSP00000335024:R297T	ENSP00000335024:R297T	R	-	2	0	SERPINA11	93982448	0.000000	0.05858	0.458000	0.27068	0.981000	0.71138	-0.013000	0.12678	-0.206000	0.10203	0.555000	0.69702	AGA		0.562	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		G	94912695	C	G	94912695	3	3	251	1	0	0	0	0	1	0	0	0	14088	913	32	5	390	5	SERPINA11	14	94912695	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	33394172	94912695	12436845	42	17917											
TRPM1	4308	broad.mit.edu	37	chr15	31360288	31360288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtgtcataggatacaCggatatactgtgaaagagtg	12	11	13	5	1	1	2	1	1	0	1	1	4	1	4	0	3	2	1	0	3	5	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:31360288C>T	ENST00000256552.6	-	5	434	c.287G>A	c.(286-288)cGt>cAt	p.R96H	TRPM1_ENST00000397795.2_Missense_Mutation_p.R74H|TRPM1_ENST00000542188.1_Missense_Mutation_p.R113H|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATAGGATACACGGATATACTG	0.493																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(337-339)cGt>cAt		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							93	95	94					15																	31360288		2053	4195	6248	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31360288C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.287G>A	15.37:g.31360288C>T	ENSP00000256552:p.Arg96His					TRPM1_uc010azy.3_5'UTR|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R96H|TRPM1_uc001zfm.3_Missense_Mutation_p.R74H|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	p.R113H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	652	-		all_lung(180;1.92e-11)	74						Missense_Mutation	SNP	ENST00000256552.6	37	c.338G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487123	0.96323	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.05139	3.49;3.49;3.49	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	M	0.92880	3.355	0.80722	D	1	D	0.69078	0.997	P	0.59487	0.858	T	0.31081	-0.9956	10	0.62326	D	0.03	-20.9439	20.3116	0.98642	0.0:1.0:0.0:0.0	.	74	Q7Z4N2	TRPM1_HUMAN	H	74;113;96;74	ENSP00000380897:R74H;ENSP00000437849:R113H;ENSP00000256552:R96H	ENSP00000256552:R96H	R	-	2	0	TRPM1	29147580	1.000000	0.71417	0.964000	0.40570	0.948000	0.59901	7.811000	0.86092	2.793000	0.96121	0.650000	0.86243	CGT		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31360288	C	T	31360288	3	4	251	1	0	0	0	0	1	0	0	0	16582	536	19	1	4686	1	TRPM1	15	31360288	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		31360288	71171104	43	17918											
COX10	1352	broad.mit.edu	37	chr17	14110443	14110443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggagactgttcttctgcagCctgtggcacctgccgctgct	4	11	12	14	2	2	1	0	0	2	1	2	2	2	1	3	2	4	5	3	2	0	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:14110443C>A	ENST00000261643.3	+	7	1322	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	COX10_ENST00000536205.1_Missense_Mutation_p.S223R|COX10_ENST00000537334.1_Missense_Mutation_p.S198R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	415					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTTCTGCAGCCTGTGGCACC	0.657																																						uc002gof.4																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1243-1245)agC>agA		Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.							35	35	35					17																	14110443		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110443C>A	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1245C>A	17.37:g.14110443C>A	ENSP00000261643:p.Ser415Arg					COX10_uc010vvs.2_Missense_Mutation_p.S198R|COX10_uc010vvt.2_Missense_Mutation_p.S223R	p.S415R	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	6	1449	+		all_lung(20;0.06)|Lung SC(565;0.168)	415					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1245C>A	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264020	0.80358	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.92699	-3.09;-3.09;-3.09	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	H	0.98980	4.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98579	1.0649	10	0.87932	D	0	.	13.5899	0.61953	0.0:0.9215:0.0:0.0785	.	223;415	B4DJ50;Q12887	.;COX10_HUMAN	R	415;223;198	ENSP00000261643:S415R;ENSP00000439494:S223R;ENSP00000443354:S198R	ENSP00000261643:S415R	S	+	3	2	COX10	14051168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	2.386000	0.81285	0.561000	0.74099	AGC		0.657	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14110443	C	A	14110443	3	1	251	1	0	0	0	0	1	0	0	0	3762	738	26	5	1271	5	COX10	17	14110443	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		14110443	67084767	44	17919											
NF1	4763	broad.mit.edu	37	chr17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctcaccttcatgcacCaggagtgtgaagccattgtc	8	9	10	14	2	2	1	2	1	0	0	3	2	2	2	4	1	2	2	4	1	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:29654691C>T	ENST00000358273.4	+	38	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1794*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1815	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q1815*(1)|p.H1814fs*43(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTCATGCACCAGGAGTGTGA	0.493			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.Q1815*(2)|p.H1814fs*43(2)|p.Q1815L(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM950848	NF1	M		c.(5443-5445)Cag>Tag		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							135	127	130					17																	29654691		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654691C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5443C>T	17.37:g.29654691C>T	ENSP00000351015:p.Gln1815*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.Q1794*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q827*|NF1_uc010cso.3_Nonsense_Mutation_p.Q3*	p.Q1815*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5826	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1815					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5443C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	43	10.493055	0.99415	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	19.5155	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	1815;1794;1460	.	ENSP00000348498:Q1794X	Q	+	1	0	NF1	26678817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.846000	0.97976	0.644000	0.83932	CAG		0.493	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29654691	C	T	29654691	4	4	251	1	0	0	0	0	0	1	0	0	10356	595	21	3	5654	3	NF1	17	29654691	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	15544248	29654691	51540519	45	17920											
ABHD3	171586	broad.mit.edu	37	chr18	19283692	19283692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgaaactctcacccccgGtcactaactggggtttctga	8	10	10	13	1	3	2	2	2	2	0	4	2	3	2	2	4	2	2	2	4	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr18:19283692G>A	ENST00000289119.2	-	2	318	c.179C>T	c.(178-180)aCc>aTc	p.T60I	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.T60I|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	60						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTCACCCCCGGTCACTAACTG	0.547																																						uc002ktl.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(178-180)aCc>aTc		Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.							57	56	56					18																	19283692		2203	4300	6503	SO:0001583	missense	171586					integral to membrane	carboxylesterase activity	g.chr18:19283692G>A	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.179C>T	18.37:g.19283692G>A	ENSP00000289119:p.Thr60Ile					ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.3_5'Flank	p.T60I	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN			1	319	-			60					B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	c.179C>T	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	G	8.456	0.854266	0.17106	.	.	ENSG00000158201	ENST00000289119	T	0.08896	3.04	4.68	2.85	0.33270	.	0.479844	0.24091	N	0.041636	T	0.06826	0.0174	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.33141	T	0.24	2.1168	7.9735	0.30140	0.2574:0.0:0.7426:0.0	.	60	Q8WU67	ABHD3_HUMAN	I	60	ENSP00000289119:T60I	ENSP00000289119:T60I	T	-	2	0	ABHD3	17537690	1.000000	0.71417	0.379000	0.26080	0.209000	0.24338	5.254000	0.65457	0.491000	0.27793	0.561000	0.74099	ACC		0.547	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			A	19283692	G	A	19283692	3	1	251	1	0	0	0	0	1	0	0	0	83	1261	44	3	1082	3	ABHD3	18	19283692	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		19283692	58793556	46	17921											
PIK3R2	5296	broad.mit.edu	37	chr19	18280055	18280055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcaccgtcaccctggCgcacccagtgcgcgccccgg	4	4	12	21	7	2	0	2	0	0	0	2	0	2	0	5	2	1	2	5	2	0	0			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:18280055C>T	ENST00000593731.1	+	16	2698	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PIK3R2_ENST00000222254.8_Missense_Mutation_p.A713V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	713	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GTCACCCTGGCGCACCCAGTg	0.751																																						uc002nia.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(2137-2139)gCg>gTg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.							8	8	8					19																	18280055		2157	4220	6377	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18280055C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2138C>T	19.37:g.18280055C>T	ENSP00000471914:p.Ala713Val					PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	p.A713V	NM_005027	NP_005018	O00459	P85B_HUMAN			15	2650	+			713			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.2138C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	37	6.422498	0.97555	.	.	ENSG00000105647	ENST00000222254	T	0.51574	0.7	3.99	3.99	0.46301	SH2 motif (2);	0.060383	0.64402	D	0.000003	T	0.60274	0.2256	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.65129	-0.6243	10	0.72032	D	0.01	-12.329	15.912	0.79479	0.0:1.0:0.0:0.0	.	713	O00459	P85B_HUMAN	V	713	ENSP00000222254:A713V	ENSP00000222254:A713V	A	+	2	0	PIK3R2	18141055	1.000000	0.71417	0.734000	0.30879	0.657000	0.38888	7.577000	0.82486	2.181000	0.69327	0.462000	0.41574	GCG		0.751	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		T	18280055	C	T	18280055	3	4	251	1	0	0	0	0	1	0	0	0	11919	768	27	1	2196	1	PIK3R2	19	18280055	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		18280055	40848928	47	17922											
DHX34	9704	broad.mit.edu	37	chr19	47876058	47876058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcagccgcacttagcGtccagtcgcccttcacccgc	6	7	8	20	5	1	0	1	0	0	0	4	0	2	0	5	0	2	2	5	0	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:47876058G>A	ENST00000328771.4	+	8	2189	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	614					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCACTTAGCGTCCAGTCGCC	0.672																																						uc010xyn.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1840-1842)Gtc>Atc		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.							44	41	42					19																	47876058		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876058G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1840G>A	19.37:g.47876058G>A	ENSP00000331907:p.Val614Ile					DHX34_uc010elc.1_Missense_Mutation_p.V529I	p.V614I	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	7	2189	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	614					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1840G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140601	0.77775	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.05649	3.41	5.3	5.3	0.74995	Helicase-associated domain (2);	0.000000	0.52532	D	0.000072	T	0.16769	0.0403	L	0.39245	1.2	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.01786	-1.1274	10	0.32370	T	0.25	-51.8232	17.7142	0.88331	0.0:0.0:1.0:0.0	.	614	Q14147	DHX34_HUMAN	I	614;529	ENSP00000331907:V614I	ENSP00000257252:V529I	V	+	1	0	DHX34	52567872	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.087000	0.94110	2.474000	0.83562	0.655000	0.94253	GTC		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		A	47876058	G	A	47876058	3	1	251	1	0	0	0	0	1	0	0	0	4507	1145	40	1	1866	1	DHX34	19	47876058	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	29596003	47876058	11252925	48	17923											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004890	52004890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggccctcctgcaccGtcacggacttctgcattgtc	7	9	8	17	2	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	0	2	rs141817270		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:52004890G>A	ENST00000291707.3	-	1	153	c.98C>T	c.(97-99)aCg>aTg	p.T33M	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	33	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCTGCACCGTCACGGACTT	0.577																																						uc002pwx.1																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(97-99)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.		G	MET/THR	1,4405		0,1,2202	106	77	87		98	-4.2	0	19	dbSNP_134	87	0,8600		0,0,4300	no	missense	SIGLEC12	NM_053003.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	33/596	52004890	1,13005	2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004890G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.98C>T	19.37:g.52004890G>A	ENSP00000291707:p.Thr33Met					SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.T33M	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	0	154	-		all_neural(266;0.0199)	33			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.98C>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.286456	0.40494	2.27E-4	0.0	ENSG00000254521	ENST00000291707	T	0.51325	0.71	2.09	-4.17	0.03857	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46367	0.1389	M	0.77103	2.36	0.09310	N	1	D	0.71674	0.998	P	0.47626	0.552	T	0.43147	-0.9409	9	0.54805	T	0.06	.	3.7594	0.08598	0.1592:0.0:0.2422:0.5986	.	33	Q96PQ1	SIG12_HUMAN	M	33	ENSP00000291707:T33M	ENSP00000291707:T33M	T	-	2	0	SIGLEC12	56696702	0.000000	0.05858	0.049000	0.19019	0.459000	0.32528	-1.602000	0.02079	-0.706000	0.05028	0.503000	0.49774	ACG		0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52004890	G	A	52004890	3	1	251	1	0	0	0	0	1	0	0	0	14308	1145	40	1	1794	1	SIGLEC12	19	52004890	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	4128832	52004890	7124093	49	17924											
ZNF761	388561	broad.mit.edu	37	chr19	53958627	53958627	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcccttacatgccatcGtagacttcatactggagaga	11	11	8	11	1	2	2	2	0	0	2	4	4	3	3	2	1	3	1	2	1	3	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:53958627G>A	ENST00000454407.1	+	0	1319							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCGTAGACTTCAT	0.398																																						uc010eqp.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(865-867)cGt>cAt		Homo sapiens zinc finger protein 761 (ZNF761), mRNA.							158	152	154					19																	53958627		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958627G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958627G>A						ZNF761_uc010ydy.2_Missense_Mutation_p.R235H|ZNF761_uc002qbt.2_Missense_Mutation_p.R235H	p.R289H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	6	1324	+			289					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.866G>A																																																																																					0.398	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53958627	G	A	53958627	1	1	251	0	1	0	0	0	0	0	0	0	18133	1145	40	1		1	ZNF761	19	53958627	RNA	SNP	G	TCGA-41-6646-01A-11D-1845-08	1953737	53958627	5170356	50	17925											
EPS8L1	54869	broad.mit.edu	37	chr19	55597484	55597484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacccagcggggcaggaggGatatgtgccctacaacatcc	10	5	14	12	1	0	0	0	0	0	0	1	3	1	3	3	5	4	1	3	5	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:55597484G>A	ENST00000201647.6	+	16	1630	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	EPS8L1_ENST00000588359.1_Missense_Mutation_p.G211E|EPS8L1_ENST00000540810.1_Missense_Mutation_p.G461E|EPS8L1_ENST00000245618.5_Missense_Mutation_p.G398E|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	525	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCAGGAGGGATATGTGCCC	0.622																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1573-1575)gGa>gAa		Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.							95	100	98					19																	55597484		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55597484G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1574G>A	19.37:g.55597484G>A	ENSP00000201647:p.Gly525Glu					EPS8L1_uc010ess.1_Missense_Mutation_p.G539E|EPS8L1_uc010yfr.2_Missense_Mutation_p.G461E|EPS8L1_uc002qiu.3_Missense_Mutation_p.G398E|EPS8L1_uc002qiv.3_Missense_Mutation_p.G203E|EPS8L1_uc002qiw.3_Missense_Mutation_p.G304E	p.G525E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	15	1678	+			525			SH3.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1574G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172677	0.78452	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	D;D;D	0.88201	-2.35;-2.35;-2.35	4.43	4.43	0.53597	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.96923	0.8995	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98446	1.0589	10	0.87932	D	0	-17.6887	14.8794	0.70519	0.0:0.0:1.0:0.0	.	304;398;525	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	E	525;461;398;211	ENSP00000201647:G525E;ENSP00000437541:G461E;ENSP00000245618:G398E	ENSP00000201647:G525E	G	+	2	0	EPS8L1	60289296	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	8.138000	0.89613	2.188000	0.69820	0.484000	0.47621	GGA		0.622	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		A	55597484	G	A	55597484	3	1	251	1	0	0	0	0	1	0	0	0	5195	1174	41	3	1684	3	EPS8L1	19	55597484	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1638857	55597484	3531499	51	17926											
ZNF831	128611	broad.mit.edu	37	chr20	57767405	57767405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcatcgacctgcccaCgccctacacctacaaggact	10	5	9	17	2	0	0	0	0	0	0	1	2	0	1	4	2	4	2	4	2	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr20:57767405C>T	ENST00000371030.2	+	1	1331	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	444							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCTGCCCACGCCCTACACC	0.682																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1330-1332)aCg>aTg		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							32	39	36					20																	57767405		2082	4184	6266	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767405C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1331C>T	20.37:g.57767405C>T	ENSP00000360069:p.Thr444Met						p.T444M	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	1331	+	all_lung(29;0.0085)		444					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1331C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.270911	0.01421	.	.	ENSG00000124203	ENST00000371030	T	0.11495	2.77	5.21	1.6	0.23607	.	.	.	.	.	T	0.02156	0.0067	N	0.00347	-1.61	0.22305	N	0.999219	B	0.15930	0.015	B	0.04013	0.001	T	0.44003	-0.9356	9	0.02654	T	1	-4.3133	8.6593	0.34081	0.0:0.2188:0.0:0.7812	.	444	Q5JPB2	ZN831_HUMAN	M	444	ENSP00000360069:T444M	ENSP00000360069:T444M	T	+	2	0	ZNF831	57200800	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	1.232000	0.32636	0.002000	0.14630	-0.793000	0.03317	ACG		0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57767405	C	T	57767405	3	4	251	1	0	0	0	0	1	0	0	0	18182	536	19	1	1333	1	ZNF831	20	57767405	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		57767405	5258115	52	17927											
TMPRSS15	5651	broad.mit.edu	37	chr21	19687506	19687506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacagtgcagatgaccGtcacagagattcaccagtgg	11	8	10	12	1	3	3	3	1	0	2	4	4	4	3	3	1	1	1	3	1	0	1	rs148711749	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr21:19687506G>A	ENST00000284885.3	-	17	2022	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	663	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D663D(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGATGACCGTCACAGAGAT	0.398													G|||	9	0.00179712	0	0.0014	5008	,	,		17607	0.002		0.006	False		,,,				2504	0					uc002ykw.3																			1	Substitution - coding silent(1)	p.D663D(2)	endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1987-1989)gaC>gaT		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	171	141	151		1989	-8	0	21	dbSNP_134	151	22,8578	15.3+/-51.7	0,22,4278	no	coding-synonymous	TMPRSS15	NM_002772.2		0,25,6478	AA,AG,GG		0.2558,0.0681,0.1922		663/1020	19687506	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19687506G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1989C>T	21.37:g.19687506G>A							p.D663D	NM_002772	NP_002763	P98073	ENTK_HUMAN			16	2020	-			663			LDL-receptor class A 2.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1989C>T	CCDS13571.1																																																																																				0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19687506	G	A	19687506	2	1	251	1	0	0	0	0	0	0	0	1	16243	1136	40	1		1	TMPRSS15	21	19687506	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08		19687506	28442389	53	17928											
SLC5A1	6523	broad.mit.edu	37	chr22	32445981	32445981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttcttcctggcaggcCgaagtatggtgtggtggccg	5	10	17	9	2	1	0	0	0	1	0	2	2	2	0	3	6	0	3	3	6	2	3	rs202166715		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:32445981C>T	ENST00000266088.4	+	2	437	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	63					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CCTGGCAGGCCGAAGTATGGT	0.448																																						uc003amc.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37	GRCh37	CM042476	SLC5A1	M		c.(187-189)Cga>Tga		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.							210	199	203					22																	32445981		2203	4300	6503	SO:0001587	stop_gained	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32445981C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.187C>T	22.37:g.32445981C>T	ENSP00000266088:p.Arg63*						p.R63*	NM_000343	NP_000334	P13866	SC5A1_HUMAN			1	437	+			63					B2R7E2|B7Z4Q9|B7ZA69	Nonsense_Mutation	SNP	ENST00000266088.4	37	c.187C>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	39	7.390816	0.98255	.	.	ENSG00000100170	ENST00000266088	.	.	.	5.55	4.47	0.54385	.	0.111691	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8756	0.46909	0.1876:0.8124:0.0:0.0	.	.	.	.	X	63	.	ENSP00000266088:R63X	R	+	1	2	SLC5A1	30775981	0.765000	0.28485	1.000000	0.80357	0.990000	0.78478	0.569000	0.23638	2.609000	0.88269	0.551000	0.68910	CGA		0.448	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		T	32445981	C	T	32445981	4	4	251	1	0	0	0	0	0	1	0	0	14661	644	23	2	193	2	SLC5A1	22	32445981	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		32445981	18858585	54	17929											
CARD10	29775	broad.mit.edu	37	chr22	37906263	37906263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagtgacgccgtcagccGctggttctcagcacgcagct	6	7	12	16	5	2	1	2	1	1	0	3	1	2	1	3	1	3	6	3	1	0	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:37906263G>A	ENST00000403299.1	-	5	1081	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Missense_Mutation_p.R289W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	289			R -> Q (in dbSNP:rs9610775). {ECO:0000269|PubMed:11259443, ECO:0000269|PubMed:11356195}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCGTCAGCCGCTGGTTCTCA	0.662																																						uc003asx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(865-867)Cgg>Tgg		Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.							38	39	39					22																	37906263		2203	4298	6501	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37906263G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.865C>T	22.37:g.37906263G>A	ENSP00000384570:p.Arg289Trp					CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Missense_Mutation_p.R289W	p.R289W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			3	882	-	Melanoma(58;0.0574)		289		R -> Q (in dbSNP:rs9610775).			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.865C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967334	0.53507	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.35973	1.28;1.28	4.86	2.62	0.31277	.	0.252547	0.31909	N	0.006875	T	0.43456	0.1248	L	0.60455	1.87	0.32159	N	0.583176	D	0.76494	0.999	P	0.54210	0.745	T	0.56189	-0.8020	10	0.62326	D	0.03	-16.9506	9.0652	0.36458	0.0:0.1103:0.519:0.3707	.	289	Q9BWT7	CAR10_HUMAN	W	289	ENSP00000384570:R289W;ENSP00000251973:R289W	ENSP00000251973:R289W	R	-	1	2	CARD10	36236209	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.898000	0.39809	1.023000	0.39654	-0.182000	0.12963	CGG		0.662	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		A	37906263	G	A	37906263	3	1	251	1	0	0	0	0	1	0	0	0	2644	1086	38	1	2301	1	CARD10	22	37906263	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	5460282	37906263	13398303	55	17930											
CXorf22	170063	broad.mit.edu	37	chrX	35985796	35985796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaagacttggcaaaacGcaagaattatgcacctgtag	15	8	10	8	1	1	2	1	0	0	2	1	2	1	2	1	2	2	4	1	2	7	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:35985796G>A	ENST00000297866.5	+	10	1727	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGGCAAAACGCAAGAATTAT	0.393																																						uc004ddj.3																			0		p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1660-1662)cGc>cAc		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							123	102	109					X																	35985796		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985796G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1661G>A	X.37:g.35985796G>A	ENSP00000297866:p.Arg554His					CXorf22_uc010ngv.3_Non-coding_Transcript	p.R554H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			9	1727	+			554					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1661G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	5.799	0.331683	0.10956	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.08	-1.9	0.07665	.	1.146510	0.06263	N	0.694209	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.41840	-0.9486	10	0.15952	T	0.53	-28.5459	5.5554	0.17113	0.5062:0.1417:0.3521:0.0	.	554	Q6ZTR5	CX022_HUMAN	H	554	ENSP00000297866:R554H	ENSP00000297866:R554H	R	+	2	0	CXorf22	35895717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.115000	0.10741	-0.855000	0.04125	-1.137000	0.01932	CGC		0.393	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35985796	G	A	35985796	3	1	251	1	0	0	0	0	1	0	0	0	4102	1087	38	1	1699	1	CXorf22	23	35985796	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		35985796	119284764	56	17931											
PCDH19	57526	broad.mit.edu	37	chrX	99662130	99662131	+	Frame_Shift_Del	DEL	GA	GA	-																															gcgacggcacgatctggtagGagacactgccgttgagaccc																										TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:99662130_99662131delGA	ENST00000373034.4	-	1	3140_3141	c.1465_1466delTC	c.(1465-1467)tccfs	p.S489fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.S489fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.S489fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GATCTGGTAGGAGACACTGCCG	0.584																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1465-1467)tccfs		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662130_99662131delGA	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1465_1466delTC	X.37:g.99662132_99662133delGA	ENSP00000362125:p.Ser489fs					PCDH19_uc004efw.4_Frame_Shift_Del_p.S489fs|PCDH19_uc004efx.4_Frame_Shift_Del_p.S489fs	p.S489fs	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	3141_3142	-			489			Cadherin 5.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	c.1465_1466delTC	CCDS55462.1																																																																																				0.584	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		-	99662131	GA	-	99662130	7	5	251	1	0	1	0	1	0	0	0	0	11514	1174	41	0	2004	0	PCDH19	23	99662130	Frame_Shift_Del	DEL	GA	TCGA-41-6646-01A-11D-1845-08	63676334	99662130	55608430	57	17932											
CROCC	9696	broad.mit.edu	37	chr1	17281847	17281847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcgtctgctggaggatgCccgtgacgggctgcggcggg	3	7	20	11	5	1	1	0	1	1	0	1	3	1	3	1	5	4	3	1	5	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:17281847C>T	ENST00000375541.5	+	24	3575	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGAGGATGCCCGTGACGGG	0.711																																						uc001azt.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3505-3507)gCc>gTc		Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.							18	22	21					1																	17281847		2180	4287	6467	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281847C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3506C>T	1.37:g.17281847C>T	ENSP00000364691:p.Ala1169Val					CROCC_uc001azu.2_Missense_Mutation_p.A472V	p.A1169V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	23	3575	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1169						Missense_Mutation	SNP	ENST00000375541.5	37	c.3506C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679227	0.29783	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.57436	0.4	4.31	4.31	0.51392	.	.	.	.	.	T	0.46964	0.1420	L	0.48642	1.525	0.21325	N	0.99972	P;P	0.38827	0.51;0.649	B;B	0.36666	0.23;0.23	T	0.39099	-0.9630	9	0.32370	T	0.25	.	15.0938	0.72217	0.0:1.0:0.0:0.0	.	472;1169	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	V	1169;1050	ENSP00000364691:A1169V	ENSP00000364691:A1169V	A	+	2	0	CROCC	17154434	0.184000	0.23200	0.124000	0.21820	0.018000	0.09664	1.845000	0.39279	2.343000	0.79666	0.561000	0.74099	GCC		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17281847	C	T	17281847	3	4	252	1	0	0	0	0	1	0	0	0	3893	739	26	3	3600	3	CROCC	1	17281847	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		17281847	231968774	1	17933											
GLIS1	148979	broad.mit.edu	37	chr1	54060541	54060541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccagcgggccccgaCagtgggcagacagggatgtg	8	4	18	11	2	0	1	0	0	0	1	0	3	0	2	3	4	1	1	3	4	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:54060541C>A	ENST00000312233.2	-	3	601	c.35G>T	c.(34-36)tGt>tTt	p.C12F		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGGGCCCCGACAGTGGGCAGA	0.657																																						uc001cvr.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(34-36)tGt>tTt		Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.							10	14	13					1																	54060541		2089	4091	6180	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060541C>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.35G>T	1.37:g.54060541C>A	ENSP00000309653:p.Cys12Phe						p.C12F	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			2	602	-			12						Missense_Mutation	SNP	ENST00000312233.2	37	c.35G>T	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274014	0.59649	.	.	ENSG00000174332	ENST00000312233	T	0.09817	2.94	4.53	4.53	0.55603	.	0.319207	0.27249	N	0.020239	T	0.16428	0.0395	L	0.29908	0.895	0.40596	D	0.981532	D	0.61080	0.989	P	0.53809	0.735	T	0.01688	-1.1295	10	0.87932	D	0	.	15.932	0.79668	0.0:1.0:0.0:0.0	.	12	Q8NBF1	GLIS1_HUMAN	F	12	ENSP00000309653:C12F	ENSP00000309653:C12F	C	-	2	0	GLIS1	53833129	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.133000	0.50531	2.456000	0.83038	0.563000	0.77884	TGT		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		A	54060541	C	A	54060541	3	1	252	1	0	0	0	0	1	0	0	0	6445	478	17	5	1859	5	GLIS1	1	54060541	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	36778694	54060541	195190080	2	17934											
RSBN1	54665	broad.mit.edu	37	chr1	114354435	114354435	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgggatcaccatcGgggccgcggtggtgatggtg	6	7	19	9	3	1	1	1	1	0	0	2	3	1	3	2	7	1	1	2	7	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:114354435G>C	ENST00000261441.5	-	1	663	c.600C>G	c.(598-600)ccC>ccG	p.P200P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	200						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCACCATCGGGGCCGCGGT	0.637																																						uc001edq.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(598-600)ccC>ccG		Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.							85	73	77					1																	114354435		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354435G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.600C>G	1.37:g.114354435G>C						RSBN1_uc001edr.3_Non-coding_Transcript	p.P200P	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	0	636	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	200					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.600C>G	CCDS862.1																																																																																				0.637	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354435	G	C	114354435	2	2	252	1	0	0	0	0	0	0	0	1	13696	1103	39	5		5	RSBN1	1	114354435	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	60293894	114354435	134896186	3	17935											
F5	2153	broad.mit.edu	37	chr1	169510453	169510453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctggagagaggtttGtctggctgaagtctagagaa	10	12	15	4	0	3	4	0	2	3	2	3	7	3	5	0	3	0	3	0	3	3	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:169510453G>A	ENST00000367797.3	-	13	4076	c.3875C>T	c.(3874-3876)aCa>aTa	p.T1292I	F5_ENST00000367796.3_Missense_Mutation_p.T1297I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1292	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGAGAGGTTTGTCTGGCTGAA	0.522																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3874-3876)aCa>aTa		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						231	258	249					1																	169510453		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510453G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3875C>T	1.37:g.169510453G>A	ENSP00000356771:p.Thr1292Ile						p.T1292I	NM_000130	NP_000121	P12259	FA5_HUMAN			12	4020	-	all_hematologic(923;0.208)		1292			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3875C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789202	0.16258	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.34859	1.34;1.34	5.07	-1.44	0.08856	.	2.147630	0.01782	N	0.031831	T	0.12347	0.0300	L	0.59436	1.845	0.19300	N	0.999979	B	0.18013	0.025	B	0.10450	0.005	T	0.08764	-1.0706	9	0.25106	T	0.35	.	3.5564	0.07866	0.2885:0.0:0.2785:0.433	.	1292	P12259	FA5_HUMAN	I	1292;1297	ENSP00000356771:T1292I;ENSP00000356770:T1297I	ENSP00000356770:T1297I	T	-	2	0	F5	167777077	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.266000	0.00136	-0.486000	0.06744	0.561000	0.74099	ACA		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169510453	G	A	169510453	3	1	252	1	0	0	0	0	1	0	0	0	5348	1377	48	3	2851	3	F5	1	169510453	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	55156018	169510453	79740168	4	17936											
OR2T10	127069	broad.mit.edu	37	chr1	248756796	248756796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacacccaaggaccgagaTggtcttgtctttggccagct	8	9	11	13	1	2	1	0	0	2	1	2	3	2	2	4	3	1	1	4	3	1	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:248756796T>C	ENST00000330500.2	-	1	304	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCGAGATGGTCTTGTCT	0.507																																						uc010pzn.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(274-276)Atc>Gtc		Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.							66	76	73					1																	248756796		2040	4235	6275	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756796T>C		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.274A>G	1.37:g.248756796T>C	ENSP00000329210:p.Ile92Val						p.I92V	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	274	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		92					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.274A>G	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	5.263	0.234039	0.09969	.	.	ENSG00000184022	ENST00000330500	T	0.02606	4.23	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05090	0.0136	M	0.77313	2.365	0.20764	N	0.999856	P	0.44195	0.828	B	0.37480	0.251	T	0.28138	-1.0053	9	0.66056	D	0.02	.	9.0902	0.36605	0.0:0.0:0.0:1.0	.	92	Q8NGZ9	O2T10_HUMAN	V	92	ENSP00000329210:I92V	ENSP00000329210:I92V	I	-	1	0	OR2T10	246823419	0.563000	0.26594	0.013000	0.15412	0.096000	0.18686	1.040000	0.30278	0.923000	0.37045	0.362000	0.22060	ATC		0.507	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		C	248756796	T	C	248756796	3	2	252	1	0	0	0	0	1	0	0	0	11017	1464	51	4	667	4	OR2T10	1	248756796	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	79246343	248756796	493825	5	17937											
C2orf39	92749	broad.mit.edu	37	chr2	26637295	26637295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacagaaagaagaaagccGattggtatgaactggttggc	16	7	12	6	1	0	4	0	1	0	3	0	5	0	4	1	3	3	2	1	3	6	3	rs148643291		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:26637295G>A	ENST00000288710.2	+	2	313	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	80					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GAAGAAAGCCGATTGGTATGA	0.448													G|||	1	0.000199681	0	0	5008	,	,		15415	0		0.001	False		,,,				2504	0					uc002rhg.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						c.(238-240)cGa>cAa		Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.		G	GLN/ARG	0,4406		0,0,2203	105	91	96		239	5.2	1	2	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC164	NM_145038.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	80/741	26637295	1,13005	2203	4300	6503	SO:0001583	missense	92749							g.chr2:26637295G>A	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.239G>A	2.37:g.26637295G>A	ENSP00000288710:p.Arg80Gln					CCDC164_uc010eym.1_Non-coding_Transcript	p.R80Q	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			1	313	+			80					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.239G>A	CCDS1723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.8	4.864594	0.91511	0.0	1.16E-4	ENSG00000157856	ENST00000288710	T	0.16073	2.37	5.25	5.25	0.73442	.	0.312008	0.34025	N	0.004327	T	0.39937	0.1097	M	0.65498	2.005	0.33401	D	0.577305	D	0.89917	1.0	D	0.79784	0.993	T	0.46884	-0.9159	10	0.36615	T	0.2	-18.2318	16.1378	0.81497	0.0:0.0:1.0:0.0	.	80	Q96MC2	CC164_HUMAN	Q	80	ENSP00000288710:R80Q	ENSP00000288710:R80Q	R	+	2	0	CCDC164	26490799	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.502000	0.66956	2.604000	0.88044	0.650000	0.86243	CGA		0.448	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		A	26637295	G	A	26637295	3	1	252	1	0	0	0	0	1	0	0	0	2164	1058	37	2	245	2	C2orf39	2	26637295	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		26637295	216562078	6	17938											
LRP2	4036	broad.mit.edu	37	chr2	170163790	170163790	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggactaaaacagactcaCggcagtcattctcatcagct	14	8	7	12	1	4	1	4	0	1	1	5	2	4	2	0	2	2	2	0	2	3	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:170163790C>T	ENST00000263816.3	-	4	713		c.e4+1		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AACAGACTCACGGCAGTCATT	0.438																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.e4+1		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						135	102	113					2																	170163790		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170163790C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.427+1G>A	2.37:g.170163790C>T						LRP2_uc010zdf.1_Splice_Site_p.Q143_splice	p.Q143_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	4	640	-			143			LDL-receptor class A 3.		O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	c.427_splice	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177933	0.78564	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2191	0.93789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169872036	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.003000	0.76310	2.604000	0.88044	0.557000	0.71058	.		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	T	170163790	C	T	170163790	5	4	252	1	0	0	0	0	0	0	1	0	8956	550	19	1	13843	1	LRP2	2	170163790	Splice_Site	SNP	C	TCGA-74-6573-01A-12D-1845-08	143526495	170163790	73035583	7	17939											
ICA1L	130026	broad.mit.edu	37	chr2	203650727	203650727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcctcttgggagaccCagtctgggataaaagaagta	12	10	11	8	0	2	3	0	1	2	2	3	5	3	4	2	2	0	1	2	2	4	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:203650727C>G	ENST00000392237.2	-	13	1404	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	ICA1L_ENST00000358299.2_Missense_Mutation_p.W416S	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	416										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAGACCCAGTCTGGGAT	0.358																																						uc002uzh.1																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1246-1248)tGg>tCg		Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.							78	83	82					2																	203650727		2203	4300	6503	SO:0001583	missense	130026							g.chr2:203650727C>G	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1247G>C	2.37:g.203650727C>G	ENSP00000376070:p.Trp416Ser					ICA1L_uc002uzi.1_Missense_Mutation_p.W416S|ICA1L_uc021vvi.1_Non-coding_Transcript	p.W416S	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			12	1411	-			416					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.1247G>C	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262957	0.01445	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	4.99	4.11	0.48088	Islet cell autoantigen Ica1, C-terminal (1);	0.547984	0.18643	N	0.135226	T	0.56307	0.1976	M	0.64997	1.995	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.50841	-0.8780	9	0.22109	T	0.4	.	10.5973	0.45345	0.1922:0.8078:0.0:0.0	.	416	Q8NDH6	ICA1L_HUMAN	S	416	.	ENSP00000351047:W416S	W	-	2	0	ICA1L	203358972	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	1.437000	0.34991	1.294000	0.44707	0.558000	0.71614	TGG		0.358	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		G	203650727	C	G	203650727	3	3	252	1	0	0	0	0	1	0	0	0	7478	595	21	5	209	5	ICA1L	2	203650727	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	33486937	203650727	39548646	8	17940											
DOCK3	1795	broad.mit.edu	37	chr3	51315131	51315131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcatgagcaaatcgcaCgctcaggaggcggtaagagg	13	5	13	10	3	2	2	2	1	0	1	3	3	2	3	1	4	1	4	1	4	2	1			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:51315131C>T	ENST00000266037.9	+	26	2792	c.2769C>T	c.(2767-2769)caC>caT	p.H923H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	923					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAATCGCACGCTCAGGAGG	0.552																																						uc011bds.2																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2767-2769)caC>caT		Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.							47	49	49					3																	51315131		2064	4195	6259	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51315131C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2769C>T	3.37:g.51315131C>T							p.H923H	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	25	2792	+			923					O15017	Silent	SNP	ENST00000266037.9	37	c.2769C>T	CCDS46835.1																																																																																				0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51315131	C	T	51315131	2	4	252	1	0	0	0	0	0	0	0	1	4688	535	19	1		1	DOCK3	3	51315131	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		51315131	146707299	9	17941											
FHIT	2272	broad.mit.edu	37	chr3	59999845	59999845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggacgcaggtcatggaagCgctccactggccgcagcggg	8	4	16	13	4	1	0	1	0	0	0	2	2	2	2	2	5	2	3	2	5	1	0	rs575922146		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:59999845C>T	ENST00000468189.1	-	6	507	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FHIT_ENST00000466788.1_Intron|FHIT_ENST00000492590.1_Missense_Mutation_p.R46H|FHIT_ENST00000476844.1_Missense_Mutation_p.R46H|FHIT_ENST00000341848.4_Missense_Mutation_p.R46H			P49789	FHIT_HUMAN	fragile histidine triad	46	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GTCATGGAAGCGCTCCACTGG	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				C|||	1	0.000199681	0	0	5008	,	,		18268	0		0	False		,,,				2504	0.001					uc003dkx.4				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(136-138)cGc>cAc		Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.							85	84	85					3																	59999845		2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999845C>T	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"fragile histidine triad gene"			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.137G>A	3.37:g.59999845C>T	ENSP00000417480:p.Arg46His					FHIT_uc003dky.3_Missense_Mutation_p.R46H|FHIT_uc010hnn.1_Missense_Mutation_p.R46H	p.R46H	NM_002012	NP_002003	P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	5	508	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	46			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.137G>A	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525869	0.64860	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.104394	0.64402	D	0.000004	D	0.95341	0.8488	M	0.80508	2.5	0.48830	D	0.999719	D	0.60160	0.987	P	0.57152	0.814	D	0.94686	0.7870	9	.	.	.	-12.246	18.6025	0.91253	0.0:1.0:0.0:0.0	.	46	P49789	FHIT_HUMAN	H	46	ENSP00000418582:R46H;ENSP00000417557:R46H;ENSP00000417480:R46H;ENSP00000342087:R46H;ENSP00000418596:R46H	.	R	-	2	0	FHIT	59974885	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	3.829000	0.55760	2.832000	0.97577	0.655000	0.94253	CGC		0.542	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		T	59999845	C	T	59999845	3	4	252	1	0	0	0	0	1	0	0	0	5877	768	27	1	322	1	FHIT	3	59999845	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	8684714	59999845	138022585	10	17942											
ZBED2	79413	broad.mit.edu	37	chr3	111312907	111312907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgggtgcccttgttgtGgggcattggagtgggcatag	6	10	18	7	1	0	0	0	0	0	0	0	2	0	1	2	5	2	3	2	5	2	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:111312907G>A	ENST00000317012.4	-	2	1150	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	48							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						CCCTTGTTGTGGGGCATTGGA	0.552																																						uc003dxy.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(142-144)Cac>Tac		Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.							198	176	184					3																	111312907		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312907G>A	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.142C>T	3.37:g.111312907G>A	ENSP00000321370:p.His48Tyr					CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.H48Y	p.H48Y	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN			1	1043	-			48					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.142C>T	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	G	5.438	0.265876	0.10294	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.93	3.05	0.35203	.	0.320684	0.21984	N	0.066243	T	0.24928	0.0605	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13308	-1.0514	9	0.24483	T	0.36	-4.2304	7.5502	0.27793	0.1195:0.0:0.8805:0.0	.	48	Q9BTP6	ZBED2_HUMAN	Y	48	.	ENSP00000321370:H48Y	H	-	1	0	ZBED2	112795597	1.000000	0.71417	0.099000	0.21106	0.309000	0.27889	2.571000	0.45990	1.011000	0.39340	0.563000	0.77884	CAC		0.552	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		A	111312907	G	A	111312907	3	1	252	1	0	0	0	0	1	0	0	0	17515	1348	47	3	518	3	ZBED2	3	111312907	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	51313062	111312907	86709523	11	17943											
C3orf15	89876	broad.mit.edu	37	chr3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgaaaaccatttggccGgactggaaggaagggcacta	12	8	14	7	1	0	1	0	1	0	0	0	4	0	4	2	6	1	2	2	6	5	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:119462849G>A	ENST00000273390.5	+	14	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	406						mitochondrion (GO:0005739)		p.G570*(1)									CCATTTGGCCGGACTGGAAGG	0.453																																						uc003ede.4																			1	Substitution - Nonsense(1)	p.G570*(2)	lung(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1708-1710)Gga>Aga		Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.							80	72	75					3																	119462849		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462849G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1708G>A	3.37:g.119462849G>A	ENSP00000273390:p.Gly570Arg					C3orf15_uc010hqz.3_Missense_Mutation_p.G508R|C3orf15_uc011bjd.2_Missense_Mutation_p.G444R|C3orf15_uc011bje.2_Missense_Mutation_p.G550R	p.G570R	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	13	1785	+			406					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1708G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360748	0.24598	.	.	ENSG00000183833	ENST00000273390	T	0.21734	1.99	5.84	5.84	0.93424	.	0.303432	0.35555	N	0.003139	T	0.16685	0.0401	L	0.46157	1.445	0.25101	N	0.990783	B;B;B	0.30361	0.054;0.277;0.054	B;B;B	0.29077	0.011;0.098;0.019	T	0.24119	-1.0169	10	0.08837	T	0.75	-17.2529	10.5728	0.45211	0.0717:0.1979:0.7304:0.0	.	406;508;570	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	R	570	ENSP00000273390:G570R	ENSP00000273390:G570R	G	+	1	0	C3orf15	120945539	0.748000	0.28294	0.782000	0.31804	0.612000	0.37316	1.930000	0.40124	2.765000	0.95021	0.484000	0.47621	GGA		0.453	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119462849	G	A	119462849	3	1	252	1	0	0	0	0	1	0	0	0	2209	1117	39	2	1762	2	C3orf15	3	119462849	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	8149942	119462849	78559581	12	17944											
MECOM	2122	broad.mit.edu	37	chr3	168833248	168833248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtcttgattcgacGttgcttcctttttttccccc	5	16	8	12	2	1	1	0	1	1	0	4	3	3	1	3	1	2	3	3	1	1	7	rs140021434		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:168833248G>A	ENST00000464456.1	-	7	3048	c.1848C>T	c.(1846-1848)aaC>aaT	p.N616N	MECOM_ENST00000433243.2_Silent_p.N617N|MECOM_ENST00000264674.3_Silent_p.N681N|MECOM_ENST00000468789.1_Silent_p.N616N|MECOM_ENST00000392736.3_Silent_p.N616N|MECOM_ENST00000494292.1_Silent_p.N804N|MECOM_ENST00000472280.1_Silent_p.N617N|MECOM_ENST00000460814.1_Silent_p.N616N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	25					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGATTCGACGTTGCTTCCTT	0.488																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2410-2412)aaC>aaT		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.		G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	121	110	114		2043,1848,1851,1848,1848,2412,1848	-1.3	0	3	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	681/1117,616/1052,617/1044,616/1043,616/1052,804/1240,616/1052	168833248	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833248G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1848C>T	3.37:g.168833248G>A						MECOM_uc010hwk.1_Silent_p.N639N|MECOM_uc003ffj.3_Silent_p.N681N|MECOM_uc003ffi.3_Silent_p.N616N|MECOM_uc011bpi.1_Silent_p.N617N|MECOM_uc003ffn.3_Silent_p.N616N|MECOM_uc003ffk.2_Silent_p.N616N|MECOM_uc003ffl.2_Silent_p.N776N|MECOM_uc011bpk.1_Silent_p.N616N|MECOM_uc010hwn.2_Silent_p.N804N	p.N804N	NM_004991	NP_004982	Q13465	MDS1_HUMAN			7	2815	-			25					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.2412C>T	CCDS54669.1																																																																																				0.488	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		A	168833248	G	A	168833248	2	1	252	1	0	0	0	0	0	0	0	1	9422	1136	40	1		1	MECOM	3	168833248	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	49370399	168833248	29189182	13	17945											
JAKMIP1	152789	broad.mit.edu	37	chr4	6062187	6062187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaacttctccaaatcttcGattttggcctgacacctcag	10	13	6	12	1	3	1	1	1	2	0	5	2	3	1	3	1	1	1	3	1	2	5	rs267600201		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:6062187G>A	ENST00000282924.5	-	11	2093	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	JAKMIP1_ENST00000409021.3_Silent_p.I536I|JAKMIP1_ENST00000409371.3_Silent_p.I351I|JAKMIP1_ENST00000410077.2_Silent_p.I371I|JAKMIP1_ENST00000409831.1_Silent_p.I536I|JAKMIP1_ENST00000457227.2_5'Flank	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	536	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAATCTTCGATTTTGGCCT	0.532																																						uc010idb.1																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1606-1608)atC>atT		Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.							215	203	207					4																	6062187		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6062187G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1608C>T	4.37:g.6062187G>A						JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.I536I|JAKMIP1_uc011bwc.2_Silent_p.I371I|JAKMIP1_uc003giv.4_Silent_p.I536I|JAKMIP1_uc010ide.3_Silent_p.I536I	p.I536I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN			10	2094	-			536			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1608C>T	CCDS3385.1																																																																																				0.532	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		A	6062187	G	A	6062187	2	1	252	1	0	0	0	0	0	0	0	1	7940	1048	37	2		2	JAKMIP1	4	6062187	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08		6062187	185092089	14	17946											
ABLIM2	84448	broad.mit.edu	37	chr4	8089918	8089918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaggccctgggacaggtgCgcgctgctgcccaccgatac	6	5	15	15	4	0	0	0	0	0	0	0	3	0	2	3	4	4	2	3	4	1	1	rs367620415	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:8089918C>T	ENST00000341937.5	-	4	496	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000296372.8_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													C|||	4	0.000798722	0.0023	0	5008	,	,		13118	0.001		0	False		,,,				2504	0					uc003gko.3																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(430-432)gcG>gcA		Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.		C	,,,,,,	9,4097		0,9,2044	32	38	36		432,432,432,432,432,432,432	-5.3	0	4		36	0,8348		0,0,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	,,,,,,	0,9,6218	TT,TC,CC		0.0,0.2192,0.0723	,,,,,,	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089918	9,12445	2053	4174	6227	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8089918C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.432G>A	4.37:g.8089918C>T						ABLIM2_uc003gkm.4_Silent_p.A144A|ABLIM2_uc003gkp.3_Silent_p.A144A|ABLIM2_uc003gkq.3_Silent_p.A144A|ABLIM2_uc003gkr.3_Silent_p.A144A|ABLIM2_uc003gkj.4_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	p.A144A	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			3	575	-			144					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.432G>A	CCDS47013.1																																																																																				0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		T	8089918	C	T	8089918	2	4	252	1	0	0	0	0	0	0	0	1	95	755	27	1		1	ABLIM2	4	8089918	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	2027731	8089918	183064358	15	17947											
SORBS2	8470	broad.mit.edu	37	chr4	186545046	186545046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcgaattcggagatgcGtgtgggcaccatgtcccggg	6	11	14	10	4	0	1	0	0	0	1	3	3	1	1	2	3	1	1	2	3	1	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:186545046G>A	ENST00000284776.7	-	13	2034	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.R609C|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.R509C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.R413C	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	509					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGAGATGCGTGTGGGCACC	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyg.3																			0		p.D623Y(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1867-1869)Cgc>Tgc		Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.							103	93	96					4																	186545046		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545046G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1525C>T	4.37:g.186545046G>A	ENSP00000284776:p.Arg509Cys					SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R609C|SORBS2_uc003iyl.3_Missense_Mutation_p.R509C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R413C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	p.R623C	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	12	1899	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	509					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1867C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150777	0.57151	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.65178	-0.1;-0.1;-0.13;-0.14	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.995	T	0.75673	-0.3236	10	0.87932	D	0	-27.2808	12.9264	0.58262	0.0:0.0:0.7308:0.2692	.	413;609;509	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	C	509;509;413;609	ENSP00000284776:R509C;ENSP00000411764:R509C;ENSP00000397482:R413C;ENSP00000347852:R609C	ENSP00000284776:R509C	R	-	1	0	SORBS2	186782040	1.000000	0.71417	0.998000	0.56505	0.613000	0.37349	5.780000	0.68956	2.710000	0.92621	0.561000	0.74099	CGC		0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		A	186545046	G	A	186545046	3	1	252	1	0	0	0	0	1	0	0	0	14928	1145	40	1	1813	1	SORBS2	4	186545046	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	178455128	186545046	4609230	16	17948											
PIK3R1	5295	broad.mit.edu	37	chr5	67589601	67589602	+	In_Frame_Ins	INS	-	-	GTT																															ttacatgaatataacactcaINSgtttcaagaaaaaagtcgag																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:67589601_67589602insGTT	ENST00000521381.1	+	11	1980_1981	c.1364_1365insGTT	c.(1363-1368)cagttt>caGTTgttt	p.455_456QF>QLF	PIK3R1_ENST00000521657.1_In_Frame_Ins_p.455_456QF>QLF|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.92_93QF>QLF|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.455_456QF>QLF|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.155_156QF>QLF|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.185_186QF>QLF|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.455_456QF>QLF	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	455					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.F456_R461del(1)|p.T454_D464del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATAACACTCAGTTTCAAGAAA	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.N453_T454insN(3)|p.F456_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.T454_Q455>Q(1)|p.T454I(1)|p.0?(1)|p.?(1)|p.Q455K(1)|p.453_454insN(1)|p.F456_R461>S(1)|p.Y452_Q455>SGGSRIK(1)	endometrium(2)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1363-1365)cag>caGTTg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589601_67589602insGTT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1365_1367dupGTT	5.37:g.67589602_67589604dupGTT	ENSP00000428056:p.Gln455_Phe456insLeu	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.3_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.3_In_Frame_Ins_p.134_135insL|PIK3R1_uc021xzn.1_In_Frame_Ins_p.92_93insL|PIK3R1_uc011crb.2_In_Frame_Ins_p.125_126insL	p.455_456insL	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1944_1945	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	455					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1364_1365insGTT	CCDS3993.1																																																																																				0.287	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		GTT	67589602	-	GTT	67589601	7	5	252	1	0	1	1	0	0	0	0	0	11918	188	7	0	1532	0	PIK3R1	5	67589601	In_Frame_Ins	INS	-	TCGA-74-6573-01A-12D-1845-08		67589601	113325659	17	17949											
TMEM174	134288	broad.mit.edu	37	chr5	72469563	72469563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtggtgagcccctgcGgcctcataacctctggaggg	6	9	14	12	1	3	1	1	1	2	0	3	2	3	2	4	4	3	0	4	4	1	1	rs138671212		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:72469563G>A	ENST00000296776.5	+	1	542	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	165						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAGCCCCTGCGGCCTCATAAC	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		17809	0		0	False		,,,				2504	0					uc010izc.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(493-495)Ggc>Agc		Homo sapiens transmembrane protein 174 (TMEM174), mRNA.		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	76	75	75		493	3.1	0.1	5	dbSNP_134	75	0,8600		0,0,4300	no	missense	TMEM174	NM_153217.2	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	165/244	72469563	2,13004	2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469563G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.493G>A	5.37:g.72469563G>A	ENSP00000296776:p.Gly165Ser						p.G165S	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	0	541	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	165					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.493G>A	CCDS4018.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.14	1.847471	0.32606	4.54E-4	0.0	ENSG00000164325	ENST00000296776	.	.	.	5.82	3.1	0.35709	.	0.396532	0.26510	N	0.023974	T	0.31734	0.0806	L	0.34521	1.04	0.37616	D	0.921116	P	0.52463	0.953	B	0.40199	0.322	T	0.12993	-1.0526	9	0.25106	T	0.35	-16.8305	8.8622	0.35265	0.1285:0.0:0.7486:0.1229	.	165	Q8WUU8	TM174_HUMAN	S	165	.	ENSP00000296776:G165S	G	+	1	0	TMEM174	72505319	0.475000	0.25894	0.075000	0.20258	0.027000	0.11550	1.160000	0.31761	0.384000	0.24942	-0.126000	0.14955	GGC		0.547	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		A	72469563	G	A	72469563	3	1	252	1	0	0	0	0	1	0	0	0	16087	1116	39	2	495	2	TMEM174	5	72469563	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	4879962	72469563	108445697	18	17950											
HTR4	3360	broad.mit.edu	37	chr5	147830788	147830788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attctgggtcattgtgtatgGgcagtttctcgagttcctga	6	16	12	7	1	3	1	1	1	2	0	5	2	4	1	1	2	0	4	1	2	1	5	rs540745040		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:147830788G>A	ENST00000521530.1	-	6	1129	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	HTR4_ENST00000354217.2_Missense_Mutation_p.P375L|HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	ATTGTGTATGGGCAGTTTCTC	0.468																																					GBM(120;370 1604 14007 17804 41573)	uc021yfh.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1123-1125)cCc>cTc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant a, mRNA.	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						443	378	400					5																	147830788		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830788G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000521530.1:c.1124C>T	5.37:g.147830788G>A	ENSP00000428320:p.Pro375Leu					HTR4_uc021yfg.1_3'UTR|HTR4_uc010jgu.1_Non-coding_Transcript	p.P375L	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1171	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000521530.1	37	c.1124C>T	CCDS34270.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532244	0.45073	.	.	ENSG00000164270	ENST00000521530;ENST00000354217	T;T	0.70631	-0.5;-0.5	4.95	4.95	0.65309	.	.	.	.	.	T	0.61689	0.2367	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.21360	0.034	T	0.56263	-0.8008	8	0.33940	T	0.23	.	13.8916	0.63742	0.0:0.0:1.0:0.0	.	375	Q13639-2	.	L	375	ENSP00000428320:P375L;ENSP00000346156:P375L	ENSP00000346156:P375L	P	-	2	0	HTR4	147810981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.881000	0.69706	2.729000	0.93468	0.650000	0.86243	CCC		0.468	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870		A	147830788	G	A	147830788	3	1	252	1	0	0	0	0	1	0	0	0	7449	1232	43	3	43	3	HTR4	5	147830788	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	75361225	147830788	33084472	19	17951											
PDGFRB	5159	broad.mit.edu	37	chr5	149501489	149501489	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtagttggaggactcGatgtctgcatatttgacgtc	8	13	12	8	2	1	1	0	1	1	0	3	4	1	3	1	2	1	3	1	2	2	4	rs368817770		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:149501489G>T	ENST00000261799.4	-	16	2767	c.2298C>A	c.(2296-2298)atC>atA	p.I766I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	766	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAGGACTCGATGTCTGCAT	0.532			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2296-2298)atC>atA		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						349	263	292					5																	149501489		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149501489G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2298C>A	5.37:g.149501489G>T						PDGFRB_uc010jhd.3_Silent_p.I605I	p.I766I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2767	-		all_hematologic(541;0.224)	766			Protein kinase.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.2298C>A	CCDS4303.1																																																																																				0.532	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		T	149501489	G	T	149501489	2	4	252	1	0	0	0	0	0	0	0	1	11662	1048	37	5		5	PDGFRB	5	149501489	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	1670701	149501489	31413771	20	17952											
KIF13A	63971	broad.mit.edu	37	chr6	17805708	17805708	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttgtctcttttacctCaggaactttttccttccatt	7	20	3	11	0	2	0	1	0	1	0	5	1	4	1	3	1	2	0	3	1	2	8			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr6:17805708C>A	ENST00000259711.6	-	19	2407	c.2302G>T	c.(2302-2304)Gag>Tag	p.E768*	KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E768*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E768*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.E768*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E768*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	768					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTACCTCAGGAACTTTT	0.383																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2302-2304)Gag>Tag		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							115	108	110					6																	17805708		1837	4090	5927	SO:0001587	stop_gained	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17805708C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2302G>T	6.37:g.17805708C>A	ENSP00000259711:p.Glu768*					KIF13A_uc003ncf.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.4_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.4_Nonsense_Mutation_p.E768*	p.E768*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		18	2462	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	768					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	c.2302G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	40	8.410438	0.98799	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.64	4.76	0.60689	.	0.097133	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.2585	0.73603	0.0:0.9315:0.0:0.0685	.	.	.	.	X	768	.	ENSP00000259711:E768X	E	-	1	0	KIF13A	17913687	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.779000	0.55379	1.483000	0.48342	0.650000	0.86243	GAG		0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			A	17805708	C	A	17805708	4	1	252	1	0	0	0	0	0	1	0	0	8274	835	29	5	3224	5	KIF13A	6	17805708	Nonsense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		17805708	153309359	21	17953											
MPP6	51678	broad.mit.edu	37	chr7	24727093	24727093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtggatgaaagtgcaCggattcagagagcatacaac	17	6	11	7	1	1	2	1	1	0	1	1	5	1	4	0	2	5	2	0	2	4	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:24727093C>T	ENST00000222644.5	+	12	1733	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	MPP6_ENST00000396475.2_Missense_Mutation_p.R495W|MPP6_ENST00000409761.1_Missense_Mutation_p.R383W			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAAAGTGCACGGATTCAGAG	0.348																																						uc003swx.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(1483-1485)Cgg>Tgg		Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.							105	110	108					7																	24727093		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24727093C>T	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1483C>T	7.37:g.24727093C>T	ENSP00000222644:p.Arg495Trp					MPP6_uc003swy.3_Missense_Mutation_p.R495W	p.R495W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			12	1782	+			495			Guanylate kinase-like.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.1483C>T	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573196	0.65765	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.44083	0.93;0.93;0.93	5.97	5.05	0.67936	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.51477	D	0.000095	T	0.65903	0.2736	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.65240	-0.6216	10	0.37606	T	0.19	.	16.0147	0.80427	0.1351:0.8649:0.0:0.0	.	495	Q9NZW5	MPP6_HUMAN	W	495;383;495	ENSP00000222644:R495W;ENSP00000386262:R383W;ENSP00000379737:R495W	ENSP00000222644:R495W	R	+	1	2	MPP6	24693618	0.994000	0.37717	0.998000	0.56505	0.992000	0.81027	3.176000	0.50863	2.829000	0.97493	0.650000	0.86243	CGG		0.348	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			T	24727093	C	T	24727093	3	4	252	1	0	0	0	0	1	0	0	0	9738	527	19	1	1525	1	MPP6	7	24727093	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		24727093	134411570	22	17954											
AOAH	313	broad.mit.edu	37	chr7	36571798	36571798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaagacatccagccGtggcaggggctgacctgaga	9	8	15	9	1	0	3	0	2	0	2	1	5	1	4	3	4	1	3	3	4	1	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:36571798G>A	ENST00000258749.5	-	18	1779	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_ENST00000538464.1_Silent_p.H182H|AOAH_ENST00000431169.1_Silent_p.H460H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Silent_p.H428H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	460					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512																																						uc022abu.1																			2	Substitution - coding silent(2)	p.H460H(4)	urinary_tract(1)|prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1378-1380)caC>caT		Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.							106	101	103					7																	36571798		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571798G>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1380C>T	7.37:g.36571798G>A						AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	p.H460H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN			17	1781	-			460					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.1380C>T	CCDS5448.1																																																																																				0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		A	36571798	G	A	36571798	2	1	252	1	0	0	0	0	0	0	0	1	726	1136	40	1		1	AOAH	7	36571798	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	11844705	36571798	122566865	23	17955											
VSTM2A	222008	broad.mit.edu	37	chr7	54617588	54617588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttccaaagtgaggaaaaAggatgaaggcttatatgagt	16	10	12	3	0	0	3	0	3	0	0	1	6	1	5	1	3	0	1	1	3	6	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:54617588A>G	ENST00000407838.3	+	4	765	c.359A>G	c.(358-360)aAg>aGg	p.K120R	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.K120R|VSTM2A_ENST00000402026.2_Missense_Mutation_p.K119R|VSTM2A_ENST00000402613.3_Missense_Mutation_p.K120R|VSTM2A_ENST00000302287.3_Missense_Mutation_p.K120R	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	120	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTGAGGAAAAAGGATGAAGGC	0.443																																						uc022adk.1																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(358-360)aAg>aGg		Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.							52	51	51					7																	54617588		2203	4300	6503	SO:0001583	missense	222008					extracellular region		g.chr7:54617588A>G	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.359A>G	7.37:g.54617588A>G	ENSP00000384967:p.Lys120Arg					VSTM2A_uc010kzf.3_Missense_Mutation_p.K120R	p.K120R	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		3	764	+			120			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.359A>G	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499901	0.64298	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207947	0.49916	D	0.000129	T	0.46946	0.1419	L	0.44542	1.39	0.27680	N	0.946483	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.996;0.994;0.995	T	0.39542	-0.9609	10	0.52906	T	0.07	-35.585	13.3034	0.60338	1.0:0.0:0.0:0.0	.	120;120;120	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	R	120;120;120;119;120	ENSP00000303108:K120R;ENSP00000384967:K120R;ENSP00000384701:K120R;ENSP00000385933:K119R;ENSP00000384103:K120R	ENSP00000303108:K120R	K	+	2	0	VSTM2A	54585082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.033000	0.57282	2.023000	0.59567	0.533000	0.62120	AAG		0.443	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		G	54617588	A	G	54617588	3	3	252	1	0	0	0	0	1	0	0	0	17226	72	3	4	373	4	VSTM2A	7	54617588	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08	18045790	54617588	104521075	24	17956											
CCT6A	908	broad.mit.edu	37	chr7	56127280	56127280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccctgaattcttttgacGacctaagtcctgactgcttg	8	14	8	11	1	1	3	0	3	1	0	2	4	2	3	3	0	2	1	3	0	3	6			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56127280G>A	ENST00000275603.4	+	9	1231	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	CCT6A_ENST00000335503.3_Missense_Mutation_p.D293N|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.D307N	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	338					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTTTGACGACCTAAGTCC	0.398																																						uc003trl.1																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1012-1014)Gac>Aac		Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.							115	101	106					7																	56127280		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127280G>A	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1012G>A	7.37:g.56127280G>A	ENSP00000275603:p.Asp338Asn					PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	p.D338N	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1176	+	Breast(14;0.214)		338					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.1012G>A	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782937	0.70222	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.79653	-1.29;-1.29;-1.29	5.53	5.53	0.82687	.	0.089739	0.85682	D	0.000000	D	0.84606	0.5509	M	0.85859	2.78	0.80722	D	1	B;B;B	0.28713	0.22;0.21;0.151	B;B;B	0.32289	0.093;0.114;0.143	D	0.84438	0.0581	10	0.66056	D	0.02	-10.1007	18.4476	0.90690	0.0:0.0:1.0:0.0	.	307;293;338	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	N	338;293;307;196	ENSP00000275603:D338N;ENSP00000352019:D293N;ENSP00000438488:D307N	ENSP00000275603:D338N	D	+	1	0	CCT6A	56094774	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	8.908000	0.92640	2.585000	0.87301	0.585000	0.79938	GAC		0.398	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		A	56127280	G	A	56127280	3	1	252	1	0	0	0	0	1	0	0	0	2957	1058	37	2	1046	2	CCT6A	7	56127280	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	1509692	56127280	103011383	25	17957											
SUMF2	25870	broad.mit.edu	37	chr7	56141892	56141892	+	Frame_Shift_Del	DEL	A	A	-																															actctggtggcttccagtggAaaaggcattttggaggcagg																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56141892delA	ENST00000413756.1	+	4	388	c.365delA	c.(364-366)gaafs	p.E122fs	SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000437307.2_Frame_Shift_Del_p.E122fs|SUMF2_ENST00000275607.9_Frame_Shift_Del_p.E34fs|SUMF2_ENST00000434526.2_Frame_Shift_Del_p.E141fs|SUMF2_ENST00000342190.6_Frame_Shift_Del_p.E141fs			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	122					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTGGAAAAGGCATTT	0.562											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kcw.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(421-423)gaafs		Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.							213	193	200					7																	56141892		2203	4300	6503	SO:0001589	frameshift_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56141892delA	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.365delA	7.37:g.56141892delA	ENSP00000406445:p.Glu122fs		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Frame_Shift_Del_p.E34fs|SUMF2_uc003trv.3_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcy.2_Intron|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Frame_Shift_Del_p.E141fs	p.E141fs	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	453	+	Breast(14;0.214)		122					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Frame_Shift_Del	DEL	ENST00000413756.1	37	c.422delA																																																																																					0.562	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		-	56141892	A	-	56141892	7	5	252	1	0	1	0	1	0	0	0	0	15383	246	9	0	436	0	SUMF2	7	56141892	Frame_Shift_Del	DEL	A	TCGA-74-6573-01A-12D-1845-08	14612	56141892	102996771	26	17958											
OCM2	4951	broad.mit.edu	37	chr7	97617753	97617753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttcatccagataccCgctctggtcgttgtctatga	6	15	7	13	2	5	2	1	1	4	1	7	2	6	2	2	1	1	2	2	1	2	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:97617753C>T	ENST00000257627.4	-	2	260	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCCAGATACCCGCTCTGGTCG	0.537																																						uc003upc.3																			0				lung(4)	4						c.(169-171)Ggg>Agg		Homo sapiens oncomodulin 2 (OCM2), mRNA.							163	130	141					7																	97617753		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97617753C>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.169G>A	7.37:g.97617753C>T	ENSP00000257627:p.Gly57Arg						p.G57R	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			1	169	-			57			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.169G>A	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.001415	0.74818	.	.	ENSG00000135175	ENST00000257627	T	0.81330	-1.48	3.98	3.98	0.46160	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92303	0.7558	H	0.95224	3.64	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94588	0.7785	10	0.87932	D	0	-21.8956	14.8293	0.70135	0.0:1.0:0.0:0.0	.	57	P0CE71	OCM2_HUMAN	R	57	ENSP00000257627:G57R	ENSP00000257627:G57R	G	-	1	0	OCM2	97455689	1.000000	0.71417	0.975000	0.42487	0.853000	0.48598	5.432000	0.66514	2.074000	0.62210	0.472000	0.43445	GGG		0.537	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		T	97617753	C	T	97617753	3	4	252	1	0	0	0	0	1	0	0	0	10822	652	23	2	172	2	OCM2	7	97617753	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	41475861	97617753	61520910	27	17959											
GPC2	221914	broad.mit.edu	37	chr7	99773980	99773980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggggacagacccggaGgtgctcacctggacagagga	9	5	15	12	1	1	2	1	0	0	2	2	6	2	6	3	6	1	1	3	6	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99773980G>A	ENST00000292377.2	-	2	342	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000426455.1_5'Flank|GPC2_ENST00000471050.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	59					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGACCCGGAGGTGCTCACCT	0.567																																						uc003utv.3																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(175-177)Ctc>Ttc		Homo sapiens glypican 2 (GPC2), mRNA.							71	60	64					7																	99773980		2203	4300	6503	SO:0001583	missense	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99773980G>A	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.175C>T	7.37:g.99773980G>A	ENSP00000292377:p.Leu59Phe					GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	p.L59F	NM_152742	NP_689955	Q8N158	GPC2_HUMAN			1	343	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		59					A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	c.175C>T	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020790	0.75275	.	.	ENSG00000213420	ENST00000292377	T	0.63913	-0.07	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	M	0.78637	2.42	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	T	0.81733	-0.0798	10	0.72032	D	0.01	-15.3237	14.2078	0.65746	0.0:0.0:1.0:0.0	.	59	Q8N158	GPC2_HUMAN	F	59	ENSP00000292377:L59F	ENSP00000292377:L59F	L	-	1	0	GPC2	99611916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.930000	0.70104	2.212000	0.71576	0.491000	0.48974	CTC		0.567	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		A	99773980	G	A	99773980	3	1	252	1	0	0	0	0	1	0	0	0	6598	1000	35	3	1600	3	GPC2	7	99773980	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	2156227	99773980	59364683	28	17960											
PILRB	29990	broad.mit.edu	37	chr7	99955938	99955938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggccatgggtcggcccCtgctgctgcccctgctgctc	4	8	12	17	1	0	0	0	0	0	0	2	0	0	0	5	3	5	4	5	3	1	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99955938C>T	ENST00000452089.1	+	6	1072	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	PILRB_ENST00000610247.1_Silent_p.L5L|PILRB_ENST00000609309.1_Silent_p.L5L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Silent_p.L5L|PILRB_ENST00000448382.1_Silent_p.L127L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	5					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTCGGCCCCTGCTGCTGCC	0.667																																						uc022aim.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(13-15)Ctg>Ttg		Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.							55	67	63					7																	99955938		2203	4300	6503	SO:0001819	synonymous_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99955938C>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.13C>T	7.37:g.99955938C>T						PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.L5L	p.L5L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN			5	1085	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		5					Q69YF9|Q9HBS0	Silent	SNP	ENST00000452089.1	37	c.13C>T	CCDS43622.1																																																																																				0.667	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		T	99955938	C	T	99955938	2	4	252	1	0	0	0	0	0	0	0	1	11926	680	24	3		3	PILRB	7	99955938	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	181958	99955938	59182725	29	17961											
WDR86	349136	broad.mit.edu	37	chr7	151097266	151097266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctgatggtgcagtcGgcgctgcatgtgaaggcagc	7	8	14	12	2	0	2	0	2	0	0	2	2	1	2	2	3	3	4	2	3	1	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:151097266G>A	ENST00000334493.6	-	2	655	c.225C>T	c.(223-225)gcC>gcT	p.A75A	WDR86_ENST00000469830.2_Silent_p.A75A|WDR86_ENST00000477459.1_5'UTR	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	75										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGCAGTCGGCGCTGCATG	0.607																																						uc011kvk.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(223-225)gcC>gcT		Homo sapiens WD repeat domain 86 (WDR86), mRNA.							40	43	42					7																	151097266		2182	4268	6450	SO:0001819	synonymous_variant	349136							g.chr7:151097266G>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"WD repeat domain containing"	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.225C>T	7.37:g.151097266G>A						WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc003wkb.2_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR	p.A75A			Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	674	-			75					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	c.225C>T	CCDS5925.2																																																																																				0.607	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		A	151097266	G	A	151097266	2	1	252	1	0	0	0	0	0	0	0	1	17331	1103	39	2		2	WDR86	7	151097266	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	51141328	151097266	8041397	30	17962											
PIWIL2	55124	broad.mit.edu	37	chr8	22211836	22211836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagggctgtggcattcctAcgcattatgtctgtgttctc	5	14	12	10	1	2	0	0	0	2	0	4	0	3	0	1	3	1	5	1	3	2	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:22211836A>G	ENST00000454009.2	+	22	3219	c.2710A>G	c.(2710-2712)Acg>Gcg	p.T904A	PIWIL2_ENST00000356766.6_Missense_Mutation_p.T904A|PIWIL2_ENST00000521356.1_Intron	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	904	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGCATTCCTACGCATTATGT	0.453																																						uc003xbn.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2710-2712)Acg>Gcg		Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.							202	164	177					8																	22211836		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211836A>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2710A>G	8.37:g.22211836A>G	ENSP00000406956:p.Thr904Ala					PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	p.T904A	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	21	2858	+			904			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2710A>G	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341453	0.81911	.	.	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.16324	2.35;2.35	4.53	4.53	0.55603	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.08146	-1.0736	10	0.45353	T	0.12	-22.0457	13.1412	0.59436	1.0:0.0:0.0:0.0	.	904	Q8TC59	PIWL2_HUMAN	A	904	ENSP00000349208:T904A;ENSP00000406956:T904A	ENSP00000349208:T904A	T	+	1	0	PIWIL2	22267781	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	1.819000	0.53055	0.459000	0.35465	ACG		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			G	22211836	A	G	22211836	3	3	252	1	0	0	0	0	1	0	0	0	11958	391	14	4	2792	4	PIWIL2	8	22211836	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08		22211836	124152186	31	17963											
COL14A1	7373	broad.mit.edu	37	chr8	121160106	121160106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattttccagcgcaagatgCggtactggttgcttccacct	8	12	10	11	2	0	2	0	0	0	2	2	2	2	2	3	2	4	4	3	2	2	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:121160106C>T	ENST00000297848.3	+	2	295	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	COL14A1_ENST00000537875.1_Missense_Mutation_p.R9W|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R9W|COL14A1_ENST00000247781.3_Missense_Mutation_p.R9W	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGCAAGATGCGGTACTGGTT	0.423																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(25-27)Cgg>Tgg		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							117	109	111					8																	121160106		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160106C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.25C>T	8.37:g.121160106C>T	ENSP00000297848:p.Arg9Trp						p.R9W	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		1	290	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		9						Missense_Mutation	SNP	ENST00000297848.3	37	c.25C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078502	0.36662	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88046	0.43;-2.12;-2.14;-2.33	5.92	3.82	0.43975	.	0.740524	0.12404	N	0.471904	T	0.76572	0.4006	N	0.14661	0.345	0.29207	N	0.874848	B	0.06786	0.001	B	0.01281	0.0	T	0.70475	-0.4861	10	0.62326	D	0.03	.	8.9857	0.35992	0.0:0.8086:0.0:0.1914	.	9	Q05707	COEA1_HUMAN	W	9	ENSP00000443974:R9W;ENSP00000311809:R9W;ENSP00000297848:R9W;ENSP00000247781:R9W	ENSP00000247781:R9W	R	+	1	2	COL14A1	121229287	0.994000	0.37717	0.994000	0.49952	0.587000	0.36485	0.629000	0.24538	1.521000	0.48983	0.655000	0.94253	CGG		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121160106	C	T	121160106	3	4	252	1	0	0	0	0	1	0	0	0	3671	759	27	1	27	1	COL14A1	8	121160106	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	98948270	121160106	25203916	32	17964											
PTPRD	5789	broad.mit.edu	37	chr9	8341178	8341178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacccttgtggattcatatgGcataatattaacaaggcgat	13	13	8	7	1	1	0	1	0	0	0	1	2	1	1	1	3	2	1	1	3	6	7	rs199674759		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341178G>C	ENST00000381196.4	-	38	5581	c.5038C>G	c.(5038-5040)Cca>Gca	p.P1680A	PTPRD_ENST00000358503.5_Missense_Mutation_p.P1658A|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1274A|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1273A|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1273A|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1680A|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1273A|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1680A|PTPRD_ENST00000397611.3_Missense_Mutation_p.P1270A|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1270A|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1667A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1680	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTCATATGGCATAATATTA	0.393										TSP Lung(15;0.13)																												uc003zkk.3																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5038-5040)Cca>Gca		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							197	206	203					9																	8341178		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341178G>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5038C>G	9.37:g.8341178G>C	ENSP00000370593:p.Pro1680Ala	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Missense_Mutation_p.P1274A|PTPRD_uc003zkq.3_Missense_Mutation_p.P1273A|PTPRD_uc003zkr.3_Missense_Mutation_p.P1264A|PTPRD_uc003zks.3_Missense_Mutation_p.P1273A|PTPRD_uc022bdj.1_Missense_Mutation_p.P1270A	p.P1680A	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	40	5781	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1680			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5038C>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249889	0.80024	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.996;0.996;0.996;0.996;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.969;0.969;0.969;0.969;1.0;0.948;1.0;0.998;1.0	T	0.05451	-1.0884	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1273;1264;1273;1274;1270;1270;1667;1680;1680	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	A	1680;1680;1667;1658;1274;1273;1270;1270;1151;1680;1273;1273	ENSP00000370593:P1680A;ENSP00000348812:P1680A;ENSP00000353187:P1667A;ENSP00000351293:P1658A;ENSP00000347373:P1274A;ENSP00000380741:P1273A;ENSP00000380735:P1270A;ENSP00000440515:P1270A;ENSP00000438164:P1680A;ENSP00000417093:P1273A;ENSP00000380731:P1273A	.	P	-	1	0	PTPRD	8331178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CCA		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			C	8341178	G	C	8341178	3	2	252	1	0	0	0	0	1	0	0	0	12799	1203	42	5	724	5	PTPRD	9	8341178	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		8341178	132872253	33	17965			1	44		2	2	26	G		4.603091e-05
PTPRD	5789	broad.mit.edu	37	chr9	8341203	8341203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattaacaaggcgatttttGaatttattacatggaagatt	15	16	7	3	1	0	2	0	1	0	1	0	4	0	3	0	2	2	0	0	2	7	8			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341203G>C	ENST00000381196.4	-	38	5556	c.5013C>G	c.(5011-5013)ttC>ttG	p.F1671L	PTPRD_ENST00000358503.5_Missense_Mutation_p.F1649L|PTPRD_ENST00000355233.5_Missense_Mutation_p.F1265L|PTPRD_ENST00000486161.1_Missense_Mutation_p.F1264L|PTPRD_ENST00000397617.3_Missense_Mutation_p.F1264L|PTPRD_ENST00000540109.1_Missense_Mutation_p.F1671L|PTPRD_ENST00000397606.3_Missense_Mutation_p.F1264L|PTPRD_ENST00000356435.5_Missense_Mutation_p.F1671L|PTPRD_ENST00000397611.3_Missense_Mutation_p.F1261L|PTPRD_ENST00000537002.1_Missense_Mutation_p.F1261L|PTPRD_ENST00000360074.4_Missense_Mutation_p.F1658L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1671	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCGATTTTTGAATTTATTAC	0.388										TSP Lung(15;0.13)																												uc003zkk.3																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5011-5013)ttC>ttG		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							185	202	196					9																	8341203		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341203G>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5013C>G	9.37:g.8341203G>C	ENSP00000370593:p.Phe1671Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.3_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.3_Missense_Mutation_p.F1255L|PTPRD_uc003zks.3_Missense_Mutation_p.F1264L|PTPRD_uc022bdj.1_Missense_Mutation_p.F1261L	p.F1671L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	40	5756	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1671			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5013C>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662640	0.47572	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	6.07	5.18	0.71444	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.046152	0.85682	D	0.000000	T	0.66519	0.2797	N	0.11284	0.12	0.53688	D	0.999972	B;B;B;B;B;B;B;B;B	0.29646	0.011;0.011;0.011;0.011;0.078;0.009;0.253;0.004;0.04	B;B;B;B;B;B;B;B;B	0.26770	0.003;0.003;0.003;0.003;0.023;0.002;0.073;0.007;0.019	T	0.63571	-0.6607	9	.	.	.	.	12.4447	0.55645	0.1342:0.0:0.8658:0.0	.	1264;1255;1264;1265;1261;1261;1658;1671;1671	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1671;1671;1658;1649;1265;1264;1261;1261;1142;1671;1264;1264	ENSP00000370593:F1671L;ENSP00000348812:F1671L;ENSP00000353187:F1658L;ENSP00000351293:F1649L;ENSP00000347373:F1265L;ENSP00000380741:F1264L;ENSP00000380735:F1261L;ENSP00000440515:F1261L;ENSP00000438164:F1671L;ENSP00000417093:F1264L;ENSP00000380731:F1264L	.	F	-	3	2	PTPRD	8331203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.744000	0.68664	1.581000	0.49865	0.655000	0.94253	TTC		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			C	8341203	G	C	8341203	3	2	252	1	0	0	0	0	1	0	0	0	12799	1281	45	5	749	5	PTPRD	9	8341203	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	25	8341203	132872228	34	17966			1	44		2	2	26	G		4.603091e-05
TRAF1	7185	broad.mit.edu	37	chr9	123673632	123673632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggggagaagaggctgaCggtcctgccacaggccgact	9	5	15	12	2	0	3	0	1	0	2	1	5	1	3	4	5	1	1	4	5	1	0	rs149705933		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:123673632C>T	ENST00000373887.3	-	6	3310	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TRAF1_ENST00000546084.1_Missense_Mutation_p.V167I|TRAF1_ENST00000540010.1_Missense_Mutation_p.V289I	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	289	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V289I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AAGAGGCTGACGGTCCTGCCA	0.612													c|||	1	0.000199681	8e-04	0	5008	,	,		20798	0		0	False		,,,				2504	0					uc004bku.2																			1	Substitution - Missense(1)	p.V289I(2)	ovary(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(865-867)Gtc>Atc		Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.		T	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	37	33	35		865,499,865	-2	0.6	9	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRAF1	NM_001190945.1,NM_001190947.1,NM_005658.4	29,29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	289/417,167/295,289/417	123673632	3,13003	2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123673632C>T	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.865G>A	9.37:g.123673632C>T	ENSP00000362994:p.Val289Ile					TRAF1_uc011lyg.2_Missense_Mutation_p.V167I|TRAF1_uc010mvl.2_Missense_Mutation_p.V289I	p.V289I	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN			5	1437	-			289			MATH.		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.865G>A	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	c	7.976	0.750141	0.15778	4.54E-4	1.16E-4	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.43688	0.94;0.94;0.94	4.64	-2.01	0.07410	TRAF-type (1);TRAF-like (1);MATH (3);	0.644298	0.15227	N	0.273622	T	0.19886	0.0478	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27739	-1.0065	10	0.14656	T	0.56	-16.2109	10.0395	0.42148	0.0:0.4697:0.0:0.5303	.	289	Q13077	TRAF1_HUMAN	I	289;289;167	ENSP00000362994:V289I;ENSP00000443183:V289I;ENSP00000438583:V167I	ENSP00000362994:V289I	V	-	1	0	TRAF1	122713453	0.000000	0.05858	0.623000	0.29173	0.905000	0.53344	-1.063000	0.03465	-0.333000	0.08476	-0.213000	0.12676	GTC		0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		T	123673632	C	T	123673632	3	4	252	1	0	0	0	0	1	0	0	0	16434	536	19	1	397	1	TRAF1	9	123673632	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	115332429	123673632	17539799	35	17967											
SLC2A8	29988	broad.mit.edu	37	chr9	130165020	130165020	+	Frame_Shift_Del	DEL	C	C	-																															ggctgggaagacccccccatCggggctgagcaggtgagagg																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:130165020delC	ENST00000373371.3	+	5	800	c.711delC	c.(709-711)atcfs	p.I237fs	SLC2A8_ENST00000373360.3_Frame_Shift_Del_p.I237fs|SLC2A8_ENST00000373352.1_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	237					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACCCCCCCATCGGGGCTGAGC	0.677																																						uc004bqu.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(709-711)atcfs		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.							9	11	10					9																	130165020		2147	4217	6364	SO:0001589	frameshift_variant	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130165020delC	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.711delC	9.37:g.130165020delC	ENSP00000362469:p.Ile237fs					SLC2A8_uc010mxj.3_Frame_Shift_Del_p.I237fs	p.I237fs	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN			4	756	+			237					Q8WUZ9|Q9NSC4	Frame_Shift_Del	DEL	ENST00000373371.3	37	c.711delC	CCDS6870.1																																																																																				0.677	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		-	130165020	C	-	130165020	7	5	252	1	0	1	0	1	0	0	0	0	14551	874	31	0	729	0	SLC2A8	9	130165020	Frame_Shift_Del	DEL	C	TCGA-74-6573-01A-12D-1845-08	6491388	130165020	11048411	36	17968											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363244	17363244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactttgaaagaggtacccGtgttggccctgaaggaaaat	13	10	11	7	1	0	3	0	2	0	1	0	4	0	4	2	3	2	2	2	3	6	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr10:17363244G>A	ENST00000377602.4	-	8	904	c.830C>T	c.(829-831)aCg>aTg	p.T277M		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	277					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAGGTACCCGTGTTGGCCCT	0.418																																						uc001ipd.3																			0		p.T277T(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(829-831)aCg>aTg		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.							100	109	106					10																	17363244		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363244G>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.830C>T	10.37:g.17363244G>A	ENSP00000366827:p.Thr277Met					ST8SIA6_uc010qce.2_Non-coding_Transcript	p.T277M	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			7	830	-			277					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.830C>T	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419302	0.62622	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.32753	1.44	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.77486	2.375	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.60806	-0.7190	10	0.59425	D	0.04	-0.2145	19.2559	0.93945	0.0:0.0:1.0:0.0	.	277	P61647	SIA8F_HUMAN	M	107;277	ENSP00000366827:T277M	ENSP00000366827:T277M	T	-	2	0	ST8SIA6	17403250	1.000000	0.71417	0.969000	0.41365	0.551000	0.35334	7.807000	0.86032	2.861000	0.98227	0.650000	0.86243	ACG		0.418	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		A	17363244	G	A	17363244	3	1	252	1	0	0	0	0	1	0	0	0	15235	1145	40	1	370	1	ST8SIA6	10	17363244	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		17363244	118171503	37	17969											
OR10A3	26496	broad.mit.edu	37	chr11	7960683	7960683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcactgggtagttcagagGatggcaaattgcagcaaatc	14	9	11	7	0	2	1	2	0	0	1	3	2	2	2	0	3	2	5	0	3	4	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:7960683G>A	ENST00000360759.3	-	1	458	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	129					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTTCAGAGGATGGCAAATT	0.438																																						uc010rbi.2																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(385-387)Cct>Tct		Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.							66	62	63					11																	7960683		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960683G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.385C>T	11.37:g.7960683G>A	ENSP00000353988:p.Pro129Ser						p.P129S	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	385	-			129					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.385C>T	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386615	0.82902	.	.	ENSG00000170683	ENST00000360759	T	0.01838	4.61	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001038	T	0.21347	0.0514	H	0.96365	3.81	0.43793	D	0.99633	D	0.89917	1.0	D	0.87578	0.998	T	0.11966	-1.0566	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	129	P58181	O10A3_HUMAN	S	129	ENSP00000353988:P129S	ENSP00000353988:P129S	P	-	1	0	OR10A3	7917259	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.526000	0.98042	2.742000	0.94016	0.650000	0.86243	CCT		0.438	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		A	7960683	G	A	7960683	3	1	252	1	0	0	0	0	1	0	0	0	10891	1174	41	3	562	3	OR10A3	11	7960683	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		7960683	127045833	38	17970											
ELP4	26610	broad.mit.edu	37	chr11	31531364	31531364	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctgcggtagtgttgcCgcgagtactgggtctgcagt	6	10	15	10	3	1	0	0	0	1	0	1	1	1	0	2	2	5	5	2	2	3	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:31531364C>G	ENST00000350638.5	+	1	68	c.33C>G	c.(31-33)gcC>gcG	p.A11A	IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|ELP4_ENST00000395934.2_Silent_p.A11A|IMMP1L_ENST00000534812.1_5'Flank|ELP4_ENST00000379163.5_Silent_p.A11A|IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	11					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GTAGTGTTGCCGCGAGTACTG	0.587																																						uc001mtc.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(31-33)gcC>gcG		Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.							41	46	45					11																	31531364		2101	4237	6338	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531364C>G	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.33C>G	11.37:g.31531364C>G						IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mtb.3_Silent_p.A11A|ELP4_uc010rdz.2_Silent_p.A11A|IMMP1L_uc009yjo.3_5'Flank|IMMP1L_uc009yjp.3_5'Flank	p.A11A			Q96EB1	ELP4_HUMAN			0	68	+	Lung SC(675;0.225)		11					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.33C>G	CCDS7875.2																																																																																				0.587	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		G	31531364	C	G	31531364	2	3	252	1	0	0	0	0	0	0	0	1	5082	639	23	5		5	ELP4	11	31531364	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	23570681	31531364	103475152	39	17971											
KAT5	10524	broad.mit.edu	37	chr11	65486084	65486084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaactctccaaagtggaaGggaaaacagggacccctgag	15	5	12	9	0	1	2	0	2	1	0	2	5	1	5	3	3	2	0	3	3	5	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:65486084G>A	ENST00000377046.3	+	12	1461	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	KAT5_ENST00000341318.4_Missense_Mutation_p.G430R|KAT5_ENST00000352980.4_Missense_Mutation_p.G345R|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.G378R|KAT5_ENST00000534650.1_Missense_Mutation_p.G186R	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	397	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAAAGTGGAAGGGAAAACAGG	0.502																																						uc001ofi.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1189-1191)Ggg>Agg		Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.							106	120	115					11																	65486084		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65486084G>A	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1189G>A	11.37:g.65486084G>A	ENSP00000366245:p.Gly397Arg					KAT5_uc001ofj.3_Missense_Mutation_p.G345R|KAT5_uc001ofk.3_Missense_Mutation_p.G430R|KAT5_uc010roo.2_Missense_Mutation_p.G378R|KAT5_uc001ofl.3_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.3_Non-coding_Transcript|RNASEH2C_uc001ofn.3_3'UTR	p.G397R	NM_006388	NP_006379	Q92993	KAT5_HUMAN			11	1455	+			397					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1189G>A	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737964	0.89573	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50001	0.78;0.8;0.76;0.79	4.96	4.96	0.65561	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.052616	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.996;0.982	D;D;D;P	0.75020	0.985;0.945;0.974;0.849	T	0.68977	-0.5267	10	0.66056	D	0.02	-25.6539	15.744	0.77922	0.0:0.0:1.0:0.0	.	378;430;345;397	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	R	397;345;430;378;186	ENSP00000366245:G397R;ENSP00000344955:G345R;ENSP00000340330:G430R;ENSP00000434765:G378R	ENSP00000340330:G430R	G	+	1	0	KAT5	65242660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.576000	0.82467	2.590000	0.87494	0.561000	0.74099	GGG		0.502	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		A	65486084	G	A	65486084	3	1	252	1	0	0	0	0	1	0	0	0	7983	1000	35	3	1330	3	KAT5	11	65486084	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	33954720	65486084	69520432	40	17972											
KRT75	9119	broad.mit.edu	37	chr12	52824357	52824357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactcagcctcggcccGgctgcggttggcaatgtcct	5	8	13	15	3	1	0	1	0	0	0	3	1	2	1	4	5	2	3	4	5	1	1	rs2232397	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:52824357G>A	ENST00000252245.5	-	5	1223	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	335	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCTCGGCCCGGCTGCGGTTG	0.547													G|||	5	0.000998403	0.0038	0	5008	,	,		19957	0		0	False		,,,				2504	0					uc001saj.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1003-1005)Cgg>Tgg		Homo sapiens keratin 75 (KRT75), mRNA.		G	TRP/ARG	10,4396	17.9+/-39.9	0,10,2193	181	162	168		1003	3.8	1	12	dbSNP_98	168	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT75	NM_004693.2	101	0,11,6492	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging	335/552	52824357	11,12995	2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52824357G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1003C>T	12.37:g.52824357G>A	ENSP00000252245:p.Arg335Trp						p.R335W	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	4	1025	-			335			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1003C>T	CCDS8827.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.6	4.012354	0.75046	0.00227	1.16E-4	ENSG00000170454	ENST00000252245	D	0.90197	-2.63	5.73	3.82	0.43975	Prefoldin (1);Filament (1);	0.130078	0.34156	N	0.004210	D	0.95373	0.8498	M	0.85777	2.775	0.34179	D	0.67075	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	10	0.87932	D	0	.	14.195	0.65664	0.0:0.0:0.6101:0.3899	rs2232397	335	O95678	K2C75_HUMAN	W	335	ENSP00000252245:R335W	ENSP00000252245:R335W	R	-	1	2	KRT75	51110624	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.830000	0.39131	0.698000	0.31739	0.655000	0.94253	CGG		0.547	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		A	52824357	G	A	52824357	3	1	252	1	0	0	0	0	1	0	0	0	8488	1115	39	2	672	2	KRT75	12	52824357	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		52824357	81027538	41	17973											
ACTR6	64431	broad.mit.edu	37	chr12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactaatattattatcactGaaccatactttaacttcact	15	16	1	9	0	2	1	2	1	0	0	2	1	2	1	1	0	4	0	1	0	8	9			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:100601474G>A	ENST00000188312.2	+	4	1054	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_ENST00000551617.1_Missense_Mutation_p.E15K|ACTR6_ENST00000546902.1_Missense_Mutation_p.E15K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E97K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	97						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259																																						uc001thb.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(289-291)Gaa>Aaa		Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.							42	46	45					12																	100601474		2193	4281	6474	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100601474G>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.289G>A	12.37:g.100601474G>A	ENSP00000188312:p.Glu97Lys					ACTR6_uc010svh.2_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc009ztu.2_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|AX746635_uc001thg.1_Intron	p.E97K	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			3	345	+			97					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.289G>A	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512914	0.96402	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.74674	0.976;0.981;0.973;0.984	D	0.99327	1.0908	10	0.87932	D	0	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	97;15;97;97	B4DLG9;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	K	109;97;15;97;15	ENSP00000448508:E109K;ENSP00000188312:E97K;ENSP00000448669:E15K;ENSP00000447237:E97K;ENSP00000448356:E15K	ENSP00000188312:E97K	E	+	1	0	ACTR6	99125605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.296000	0.96104	2.693000	0.91896	0.650000	0.86243	GAA		0.259	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		A	100601474	G	A	100601474	3	1	252	1	0	0	0	0	1	0	0	0	216	1291	45	3	303	3	ACTR6	12	100601474	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	47777117	100601474	33250421	42	17974											
SYCP3	50511	broad.mit.edu	37	chr12	102128812	102128812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggcaagaagagccttGttaatgtcaactagattgaa	13	12	9	7	0	2	4	1	1	1	3	2	4	2	4	1	1	2	2	1	1	6	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:102128812G>T	ENST00000392927.3	-	5	377	c.246C>A	c.(244-246)aaC>aaA	p.N82K	SYCP3_ENST00000392924.1_Missense_Mutation_p.N82K|SYCP3_ENST00000266743.2_Missense_Mutation_p.N82K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	82					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GAAGAGCCTTGTTAATGTCAA	0.308																																						uc001tir.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(244-246)aaC>aaA		Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.							71	71	71					12																	102128812		2201	4298	6499	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102128812G>T	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.246C>A	12.37:g.102128812G>T	ENSP00000376658:p.Asn82Lys					SYCP3_uc001tiq.3_Missense_Mutation_p.N82K|SYCP3_uc001tis.3_Missense_Mutation_p.N82K	p.N82K	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN			4	385	-			82						Missense_Mutation	SNP	ENST00000392927.3	37	c.246C>A	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876458	0.33162	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.54	3.67	0.42095	.	0.275088	0.39615	N	0.001307	T	0.40645	0.1125	L	0.40543	1.245	0.44282	D	0.997145	B	0.20261	0.043	B	0.23419	0.046	T	0.20338	-1.0278	9	0.02654	T	1	-5.2268	7.5272	0.27662	0.1423:0.0:0.7215:0.1361	.	82	Q8IZU3	SYCP3_HUMAN	K	82	.	ENSP00000266743:N82K	N	-	3	2	SYCP3	100652943	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.451000	0.44952	0.661000	0.30985	0.313000	0.20887	AAC		0.308	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		T	102128812	G	T	102128812	3	4	252	1	0	0	0	0	1	0	0	0	15431	1368	48	5	484	5	SYCP3	12	102128812	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	1527338	102128812	31723083	43	17975											
EIF2B1	1967	broad.mit.edu	37	chr12	124111633	124111633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgacgtatacactaaatCgcttcttggccgccacggct	8	11	9	13	4	1	1	0	1	1	0	2	1	1	1	2	2	1	3	2	2	4	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:124111633C>T	ENST00000424014.2	-	5	648	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	EIF2B1_ENST00000539951.1_Missense_Mutation_p.R134Q|EIF2B1_ENST00000537073.1_Missense_Mutation_p.R147Q	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	147					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TACACTAAATCGCTTCTTGGC	0.502																																						uc001ufm.3																			0		p.R147*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(439-441)cGa>cAa		Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.							147	120	129					12																	124111633		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124111633C>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.440G>A	12.37:g.124111633C>T	ENSP00000416250:p.Arg147Gln					EIF2B1_uc010tat.2_Missense_Mutation_p.R147Q	p.R147Q	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	4	659	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		147					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.440G>A	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580663	0.96565	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.72	5.72	0.89469	.	0.094005	0.85682	D	0.000000	D	0.95506	0.8540	M	0.70595	2.14	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.19	D;P;B	0.72625	0.978;0.906;0.031	D	0.94317	0.7550	10	0.36615	T	0.2	-12.0031	18.0774	0.89432	0.0:1.0:0.0:0.0	.	147;134;147	B4DGX0;F5H0D0;Q14232	.;.;EI2BA_HUMAN	Q	147;147;134;147	ENSP00000416250:R147Q;ENSP00000228958:R147Q;ENSP00000438060:R134Q;ENSP00000444183:R147Q	ENSP00000228958:R147Q	R	-	2	0	EIF2B1	122677586	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.376000	0.79658	2.691000	0.91804	0.655000	0.94253	CGA		0.502	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		T	124111633	C	T	124111633	3	4	252	1	0	0	0	0	1	0	0	0	5000	884	31	2	497	2	EIF2B1	12	124111633	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	21982821	124111633	9740262	44	17976											
TMEM62	80021	broad.mit.edu	37	chr15	43476674	43476674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttttattctcccctttgCggacctggttgacactgctg	4	17	8	12	1	1	1	0	1	1	0	2	2	1	2	3	2	2	2	3	2	1	6	rs146146981		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:43476674C>T	ENST00000260403.2	+	14	2101	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	CCNDBP1_ENST00000356633.5_5'Flank|EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000300213.4_5'Flank|RP11-473C18.3_ENST00000565685.1_RNA	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	608						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTCCCCTTTGCGGACCTGGTT	0.448													C|||	1	0.000199681	0	0	5008	,	,		22561	0		0	False		,,,				2504	0.001					uc001zqr.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1822-1824)Cgg>Tgg		Homo sapiens transmembrane protein 62 (TMEM62), mRNA.		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	192	189	190		1822	0.7	1	15	dbSNP_134	190	0,8598		0,0,4299	no	missense	TMEM62	NM_024956.3	101	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	608/644	43476674	2,13002	2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43476674C>T	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1822C>T	15.37:g.43476674C>T	ENSP00000260403:p.Arg608Trp					TMEM62_uc010bda.3_Missense_Mutation_p.R443W|CCNDBP1_uc021sjs.1_5'Flank|CCNDBP1_uc001zqv.3_5'Flank|CCNDBP1_uc010udl.2_5'Flank|CCNDBP1_uc021sjt.1_5'Flank|CCNDBP1_uc021sju.1_5'Flank|CCNDBP1_uc010bdb.3_5'Flank|CCNDBP1_uc001zqy.3_5'Flank	p.R608W	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	13	2101	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	608					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1822C>T	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074068	0.76415	4.54E-4	0.0	ENSG00000137842	ENST00000260403	.	.	.	5.13	0.738	0.18319	.	0.237839	0.40818	N	0.001014	T	0.65186	0.2667	M	0.69823	2.125	0.46954	D	0.999266	D	0.76494	0.999	P	0.60949	0.881	T	0.63883	-0.6536	9	0.87932	D	0	-4.6638	5.927	0.19118	0.5871:0.245:0.0:0.1678	.	608	Q0P6H9	TMM62_HUMAN	W	608	.	ENSP00000260403:R608W	R	+	1	2	TMEM62	41263966	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.963000	0.40452	0.287000	0.22375	0.561000	0.74099	CGG		0.448	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		T	43476674	C	T	43476674	3	4	252	1	0	0	0	0	1	0	0	0	16186	759	27	1	1876	1	TMEM62	15	43476674	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		43476674	59054718	45	17977											
MYO5A	4644	broad.mit.edu	37	chr15	52681529	52681529	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgttgtacaattttTgggcccaggtgtcatctgtg	7	16	12	6	0	2	0	1	0	1	0	2	0	2	0	1	2	1	2	1	2	3	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:52681529T>G	ENST00000399231.3	-	13	1817	c.1574A>C	c.(1573-1575)cAa>cCa	p.Q525P	MYO5A_ENST00000553916.1_Missense_Mutation_p.Q525P|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q525P|MYO5A_ENST00000399233.2_Missense_Mutation_p.Q525P|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q525P	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	525	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTACAATTTTTGGGCCCAGGT	0.378																																						uc002aby.2																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1573-1575)cAa>cCa		Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.							95	86	89					15																	52681529		1834	4085	5919	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52681529T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1574A>C	15.37:g.52681529T>G	ENSP00000382177:p.Gln525Pro					MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	p.Q525P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	12	1818	-			525			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1574A>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.709912	0.89018	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.83275	0.979;0.996	D	0.98818	1.0746	10	0.66056	D	0.02	.	16.1115	0.81266	0.0:0.0:0.0:1.0	.	525;525	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	P	525;59;525;525;525;155;525	ENSP00000382177:Q525P;ENSP00000382179:Q525P;ENSP00000348693:Q525P;ENSP00000350945:Q525P;ENSP00000451109:Q525P	ENSP00000348693:Q525P	Q	-	2	0	MYO5A	50468821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.207000	0.71202	0.460000	0.39030	CAA		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52681529	T	G	52681529	3	3	252	1	0	0	0	0	1	0	0	0	10078	1812	63	5	4109	5	MYO5A	15	52681529	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	9204855	52681529	49849863	46	17978											
TMC3	342125	broad.mit.edu	37	chr15	81625404	81625404	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattcattaatgacatagtAtctgggggcgtggggcctgg	9	11	14	7	1	2	1	1	1	1	0	2	1	2	1	1	5	0	1	1	5	3	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:81625404A>C	ENST00000359440.5	-	22	2794	c.2659T>G	c.(2659-2661)Tac>Gac	p.Y887D	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.Y888D|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGACATAGTATCTGGGGGCG	0.473																																						uc021ssk.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2659-2661)Tac>Gac		Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.							100	95	97					15																	81625404		1901	4136	6037	SO:0001583	missense	342125					integral to membrane		g.chr15:81625404A>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2659T>G	15.37:g.81625404A>C	ENSP00000352413:p.Tyr887Asp					TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	p.Y887D	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			21	2659	-			887						Missense_Mutation	SNP	ENST00000359440.5	37	c.2659T>G	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671173	0.47781	.	.	ENSG00000188869	ENST00000359440	T	0.78126	-1.15	5.42	5.42	0.78866	.	0.378331	0.17938	U	0.156931	T	0.81941	0.4929	M	0.71581	2.175	0.47547	D	0.999459	P	0.51933	0.949	P	0.48454	0.578	D	0.84458	0.0592	10	0.87932	D	0	-4.2182	15.4962	0.75653	1.0:0.0:0.0:0.0	.	887	Q7Z5M5	TMC3_HUMAN	D	887	ENSP00000352413:Y887D	ENSP00000352413:Y887D	Y	-	1	0	TMC3	79412459	1.000000	0.71417	0.034000	0.17996	0.066000	0.16364	4.070000	0.57548	2.058000	0.61347	0.533000	0.62120	TAC		0.473	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		C	81625404	A	C	81625404	3	2	252	1	0	0	0	0	1	0	0	0	15983	449	16	5	647	5	TMC3	15	81625404	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08	28943875	81625404	20905988	47	17979											
RANBP10	57610	broad.mit.edu	37	chr16	67840366	67840366	+	Frame_Shift_Del	DEL	C	C	-																															ccccaggggacggcagcccgCccccagcgcccccgccggag																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr16:67840366delC	ENST00000317506.3	-	1	189	c.74delG	c.(73-75)ggcfs	p.G26fs	RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Frame_Shift_Del_p.G26fs|RANBP10_ENST00000448631.2_Frame_Shift_Del_p.G26fs|RANBP10_ENST00000425512.2_5'UTR|TSNAXIP1_ENST00000561639.1_5'Flank|RANBP10_ENST00000411657.2_5'UTR|TSNAXIP1_ENST00000415766.3_5'Flank|RANBP10_ENST00000602887.1_5'UTR|TSNAXIP1_ENST00000388833.3_5'Flank	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	26					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGCAGCCCGCCCCCAGCGCC	0.711																																						uc002eud.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(73-75)ggcfs		Homo sapiens RAN binding protein 10 (RANBP10), mRNA.							6	7	7					16																	67840366		2102	4109	6211	SO:0001589	frameshift_variant	57610							g.chr16:67840366delC	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.74delG	16.37:g.67840366delC	ENSP00000316589:p.Gly26fs					RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	p.G25fs	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	0	190	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	25					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Frame_Shift_Del	DEL	ENST00000317506.3	37	c.74delG	CCDS32469.1																																																																																				0.711	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		-	67840366	C	-	67840366	7	5	252	1	0	1	0	1	0	0	0	0	13026	739	26	0	1844	0	RANBP10	16	67840366	Frame_Shift_Del	DEL	C	TCGA-74-6573-01A-12D-1845-08		67840366	22514387	48	17980											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs587778720		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr17:7578211C>T	ENST00000269305.4	-	6	827	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000420246.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACACTATGTCGAAAAGTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213*(217)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(11)|p.R213P(10)|p.R213fs*34(10)|p.0?(8)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R213R(4)|p.F212L(3)|p.R213G(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.R81Q(2)|p.F212S(2)|p.R213>L(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.D208fs*1(1)|p.F212Y(1)|p.T211fs*28(1)|p.R213fs*35(1)|p.R209fs*6(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004906|CM022474	TP53	M		c.(637-639)cGa>cAa	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132	118	122					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.638G>A	17.37:g.7578211C>T	ENSP00000269305:p.Arg213Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.3_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.2_Missense_Mutation_p.R174Q|DL476358_uc021tph.1_5'Flank	p.R213Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.638G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233765	0.97399	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	N	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.50039	D	0.999845	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.996;1.0;0.995;0.994;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213Q;ENSP00000352610:R213Q;ENSP00000269305:R213Q;ENSP00000398846:R213Q;ENSP00000391127:R213Q;ENSP00000391478:R213Q;ENSP00000425104:R81Q;ENSP00000423862:R120Q	ENSP00000269305:R213Q	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578211	C	T	7578211	3	4	252	1	0	0	0	0	1	0	0	0	16378	884	31	2	656	2	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		7578211	73616999	49	17981											
INSR	3643	broad.mit.edu	37	chr19	7120678	7120678	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttcagggactccggTgccatccaccgtacagggag	8	7	11	15	2	1	0	1	0	0	0	4	2	4	2	6	3	2	1	6	3	1	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7120678T>C	ENST00000302850.5	-	20	3754	c.3612A>G	c.(3610-3612)gcA>gcG	p.A1204A	INSR_ENST00000341500.5_Silent_p.A1192A	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGGACTCCGGTGCCATCCACC	0.522																																						uc002mgd.1																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3610-3612)gcA>gcG		Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						144	112	123					19																	7120678		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7120678T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3612A>G	19.37:g.7120678T>C						INSR_uc002mge.1_Silent_p.A1192A	p.A1204A	NM_000208	NP_000199	P06213	INSR_HUMAN			19	3721	-			1204			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.3612A>G	CCDS12176.1																																																																																				0.522	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			C	7120678	T	C	7120678	2	2	252	1	0	0	0	0	0	0	0	1	7773	1683	59	4		4	INSR	19	7120678	Silent	SNP	T	TCGA-74-6573-01A-12D-1845-08		7120678	52008305	50	17982											
PNPLA6	10908	broad.mit.edu	37	chr19	7622102	7622102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgctgtcgggctaccTgcccccgctgtgcgacccca	5	7	11	18	4	0	1	0	1	0	0	1	2	0	1	5	1	3	3	5	1	1	1			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7622102T>C	ENST00000221249.6	+	30	3646	c.3215T>C	c.(3214-3216)cTg>cCg	p.L1072P	PNPLA6_ENST00000414982.3_Missense_Mutation_p.L1120P|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L1110P|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L1045P|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L1072P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1111	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGGCTACCTGCCCCCGCTG	0.662																																						uc010xjq.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3358-3360)cTg>cCg		Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.							61	53	56					19																	7622102		2203	4299	6502	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7622102T>C	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3215T>C	19.37:g.7622102T>C	ENSP00000221249:p.Leu1072Pro					PNPLA6_uc002mgq.2_Missense_Mutation_p.L1072P|PNPLA6_uc010xjp.2_Missense_Mutation_p.L1045P|PNPLA6_uc002mgr.2_Missense_Mutation_p.L1072P|PNPLA6_uc002mgs.3_Missense_Mutation_p.L1110P	p.L1120P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN			28	3599	+			1111			Patatin.		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3359T>C	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	t	15.98	2.991970	0.54041	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.101398	0.42548	D	0.000690	D	0.90669	0.7073	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76071	0.985;0.974;0.974;0.987	D	0.92511	0.6016	10	0.87932	D	0	.	11.0965	0.48147	0.0:0.0:0.0:1.0	.	1111;1045;1110;1072	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	P	1072;1045;1120;1072	ENSP00000221249:L1072P;ENSP00000443323:L1045P;ENSP00000407509:L1120P;ENSP00000394348:L1072P	ENSP00000221249:L1072P	L	+	2	0	PNPLA6	7528102	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.800000	0.85949	1.726000	0.51525	0.397000	0.26171	CTG		0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		C	7622102	T	C	7622102	3	2	252	1	0	0	0	0	1	0	0	0	12169	1580	55	4	3469	4	PNPLA6	19	7622102	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	501424	7622102	51506881	51	17983											
SLC1A6	6511	broad.mit.edu	37	chr19	15061033	15061033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactctcgttgcctccccGtccccgggatgcccccttct	3	10	8	20	3	2	0	0	0	2	0	5	1	4	1	7	1	3	2	7	1	0	2	rs370044376		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:15061033G>A	ENST00000221742.3	-	9	1676	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R479W|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R493W	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	557					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TTGCCTCCCCGTCCCCGGGAT	0.647																																						uc002naa.1																			0		p.R557Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1669-1671)Cgg>Tgg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	32	28	29		1669	4.1	1	19		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC1A6	NM_005071.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	557/565	15061033	1,13005	2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061033G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1669C>T	19.37:g.15061033G>A	ENSP00000221742:p.Arg557Trp					SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	p.R557W	NM_005071	NP_005062	P48664	EAA4_HUMAN			8	1676	-			557					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1669C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.017082	0.75161	0.0	1.16E-4	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.74526	-0.85;0.39	5.23	4.12	0.48240	.	0.350237	0.29126	N	0.013062	T	0.70780	0.3263	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66979	0.948;0.812	T	0.75124	-0.3428	10	0.52906	T	0.07	-22.9876	12.9637	0.58472	0.0:0.1641:0.8359:0.0	.	493;557	E7EV13;P48664	.;EAA4_HUMAN	W	493;557	ENSP00000409386:R493W;ENSP00000221742:R557W	ENSP00000221742:R557W	R	-	1	2	SLC1A6	14922033	0.827000	0.29292	0.969000	0.41365	0.904000	0.53231	2.665000	0.46791	2.449000	0.82847	0.544000	0.68410	CGG		0.647	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15061033	G	A	15061033	3	1	252	1	0	0	0	0	1	0	0	0	14436	1144	40	1	29	1	SLC1A6	19	15061033	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	7438931	15061033	44067950	52	17984											
FFAR3	2865	broad.mit.edu	37	chr19	35850547	35850547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcgtgggctatatctgcgGtgaaagcccggcgtggagga	7	9	17	8	4	1	1	0	1	1	0	2	3	1	3	1	5	2	1	1	5	3	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:35850547G>T	ENST00000327809.4	+	2	956	c.755G>T	c.(754-756)gGt>gTt	p.G252V	FFAR3_ENST00000594310.1_Missense_Mutation_p.G252V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	252					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TATATCTGCGGTGAAAGCCCG	0.607																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.3																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(754-756)gGt>gTt		Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.							285	206	233					19																	35850547		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850547G>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.755G>T	19.37:g.35850547G>T	ENSP00000328230:p.Gly252Val					FFAR3_uc021usm.1_Missense_Mutation_p.G252V	p.G252V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		1	830	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		252					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.755G>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	3.128	-0.178964	0.06380	.	.	ENSG00000185897	ENST00000327809	T	0.71817	-0.6	5.13	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.664365	0.15132	U	0.278803	T	0.68284	0.2984	L	0.60455	1.87	0.09310	N	0.999999	P	0.50066	0.931	P	0.48738	0.588	T	0.56056	-0.8042	10	0.12766	T	0.61	-5.2777	9.6688	0.40000	0.173:0.0:0.827:0.0	.	252	O14843	FFAR3_HUMAN	V	252	ENSP00000328230:G252V	ENSP00000328230:G252V	G	+	2	0	FFAR3	40542387	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.811000	0.27198	0.566000	0.29273	-0.463000	0.05309	GGT		0.607	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		T	35850547	G	T	35850547	3	4	252	1	0	0	0	0	1	0	0	0	5829	1261	44	5	757	5	FFAR3	19	35850547	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	20789514	35850547	23278436	53	17985											
DPRX	503834	broad.mit.edu	37	chr19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggtgtacacgggtcatCgagtcccctcattccagctc	6	10	10	15	2	2	0	2	0	0	0	6	1	4	0	4	2	2	2	4	2	1	2	rs150237904		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:54140039C>T	ENST00000376650.1	+	3	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567																																						uc002qcf.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(373-375)Cga>Tga		Homo sapiens divergent-paired related homeobox (DPRX), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	135	108	117		373	0.3	0	19	dbSNP_134	117	0,8600		0,0,4300	no	stop-gained	DPRX	NM_001012728.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		125/192	54140039	1,13005	2203	4300	6503	SO:0001587	stop_gained	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140039C>T		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.373C>T	19.37:g.54140039C>T	ENSP00000365838:p.Arg125*						p.R125*	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	424	+	Ovarian(34;0.19)		125						Nonsense_Mutation	SNP	ENST00000376650.1	37	c.373C>T	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	c	10.36	1.329849	0.24167	2.27E-4	0.0	ENSG00000204595	ENST00000376650	.	.	.	1.45	0.297	0.15762	.	.	.	.	.	.	.	.	.	.	.	0.47737	D	0.999504	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	4.657	0.12622	0.3718:0.6282:0.0:0.0	.	.	.	.	X	125	.	ENSP00000365838:R125X	R	+	1	2	DPRX	58831851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.280000	0.18790	0.140000	0.18849	0.561000	0.74099	CGA		0.567	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		T	54140039	C	T	54140039	4	4	252	1	0	0	0	0	0	1	0	0	4738	876	31	2	383	2	DPRX	19	54140039	Nonsense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	18289492	54140039	4988944	54	17986											
C20orf114	92747	broad.mit.edu	37	chr20	31878893	31878893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagccatgggagcctgCgcatccaactgctgcataag	10	6	10	15	1	0	0	0	0	0	0	1	1	1	1	5	1	6	3	5	1	2	1	rs149436006	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr20:31878893C>T	ENST00000253354.1	+	5	657	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	166					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TGGGAGCCTGCGCATCCAACT	0.617																																						uc002wyw.1																			0											c.(496-498)Cgc>Tgc		Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.							55	49	51					20																	31878893		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31878893C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.496C>T	20.37:g.31878893C>T	ENSP00000253354:p.Arg166Cys					BPIFB1_uc010gej.1_Missense_Mutation_p.R166C	p.R166C	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			4	657	+			166					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.496C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775534	0.49786	.	.	ENSG00000125999	ENST00000253354	T	0.06371	3.31	5.22	5.22	0.72569	.	0.227351	0.31709	N	0.007197	T	0.23688	0.0573	M	0.75447	2.3	0.47094	D	0.999316	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	T	0.00124	-1.2023	9	.	.	.	-14.3295	14.6509	0.68797	0.0:1.0:0.0:0.0	.	166;166	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	C	166	ENSP00000253354:R166C	.	R	+	1	0	BPIFB1	31342554	0.997000	0.39634	0.957000	0.39632	0.032000	0.12392	1.268000	0.33062	2.601000	0.87937	0.561000	0.74099	CGC		0.617	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		T	31878893	C	T	31878893	3	4	252	1	0	0	0	0	1	0	0	0	2082	768	27	1	510	1	C20orf114	20	31878893	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		31878893	31146627	55	17987											
TRIOBP	11078	broad.mit.edu	37	chr22	38120288	38120288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccacacgagacaacccCagaacatcctgtgcccagcg	13	3	9	16	2	0	3	0	0	0	3	1	4	1	3	5	0	5	0	5	0	2	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr22:38120288C>T	ENST00000406386.3	+	7	1980	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	575					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582																																						uc003atr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1723-1725)ccC>ccT		Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.							60	99	87					22																	38120288		1896	4133	6029	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120288C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1725C>T	22.37:g.38120288C>T						TRIOBP_uc003atu.3_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	p.P575P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			6	1996	+	Melanoma(58;0.0574)		575					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1725C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38120288	C	T	38120288	2	4	252	1	0	0	0	0	0	0	0	1	16550	581	21	3		3	TRIOBP	22	38120288	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		38120288	13184278	56	17988											
SATL1	340562	broad.mit.edu	37	chrX	84363108	84363108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttggttgtttcatgtcCacttggttcatttcatatag	7	19	8	7	0	3	0	3	0	0	0	4	0	4	0	1	2	1	4	1	2	2	8			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chrX:84363108C>T	ENST00000395409.3	-	1	866	c.306G>A	c.(304-306)gtG>gtA	p.V102V	SATL1_ENST00000509231.1_Silent_p.V289V|SATL1_ENST00000332921.5_Silent_p.V102V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	102	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTCATGTCCACTTGGTTCA	0.463																																						uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(865-867)gtG>gtA		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							225	174	191					X																	84363108		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84363108C>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.306G>A	X.37:g.84363108C>T							p.V289V	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN			0	867	-			102			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.867G>A																																																																																					0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		T	84363108	C	T	84363108	2	4	252	1	0	0	0	0	0	0	0	1	13855	581	21	3		3	SATL1	23	84363108	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		84363108	70907452	57	17989											
SERINC2	347735	broad.mit.edu	37	chr1	31897702	31897702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcagccgggacccccGggctgccatccagaatgggt	8	4	15	14	2	0	1	0	0	0	1	1	3	1	2	5	3	4	3	5	3	1	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:31897702G>A	ENST00000373709.3	+	3	524	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.R129Q|SERINC2_ENST00000536859.1_Missense_Mutation_p.R129Q|SERINC2_ENST00000373710.1_Missense_Mutation_p.R134Q	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	125					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CGGGACCCCCGGGCTGCCATC	0.647																																						uc021okm.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(400-402)cGg>cAg		Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.							9	12	11					1																	31897702		2151	4236	6387	SO:0001583	missense	347735					integral to membrane		g.chr1:31897702G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.374G>A	1.37:g.31897702G>A	ENSP00000362813:p.Arg125Gln					SERINC2_uc010ogg.2_Missense_Mutation_p.R129Q|SERINC2_uc009vtw.1_Missense_Mutation_p.R125Q|SERINC2_uc001bst.3_Missense_Mutation_p.R125Q|SERINC2_uc001bsu.3_Missense_Mutation_p.R70Q|SERINC2_uc010ogh.2_Missense_Mutation_p.R129Q	p.R134Q	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	3	674	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	125					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.401G>A	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439530	0.96168	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	T	0.71882	-0.4458	10	0.87932	D	0	-32.528	16.3974	0.83613	0.0:0.0:1.0:0.0	.	129;134;129;125	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	Q	134;129;125;129	ENSP00000362814:R134Q;ENSP00000444307:R129Q;ENSP00000362813:R125Q;ENSP00000439048:R129Q	ENSP00000362813:R125Q	R	+	2	0	SERINC2	31670289	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.582000	0.98214	2.204000	0.70986	0.609000	0.83330	CGG		0.647	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		A	31897702	G	A	31897702	3	1	253	1	0	0	0	0	1	0	0	0	14080	1116	39	2	384	2	SERINC2	1	31897702	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		31897702	217352919	1	17990											
WLS	79971	broad.mit.edu	37	chr1	68610274	68610274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaacgatgaagaagatgAcagtcatggcagcgcaggcc	14	5	13	9	2	1	4	1	2	0	2	1	6	1	4	1	2	2	2	1	2	3	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:68610274A>G	ENST00000262348.4	-	10	1593	c.1340T>C	c.(1339-1341)gTc>gCc	p.V447A	WLS_ENST00000540432.1_Missense_Mutation_p.V447A|GNG12-AS1_ENST00000434072.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.V356A|WLS_ENST00000354777.2_Missense_Mutation_p.V445A	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	447					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGAAGATGACAGTCATGGC	0.443																																						uc001dee.3																			0		p.M445T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1333-1335)gTc>gCc		Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.							126	129	128					1																	68610274		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68610274A>G	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1340T>C	1.37:g.68610274A>G	ENSP00000262348:p.Val447Ala					GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.V447A|WLS_uc001deg.2_Missense_Mutation_p.V356A|WLS_uc009wbf.1_Missense_Mutation_p.V402A	p.V445A	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN			9	1636	-			447					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1334T>C	CCDS642.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956448	0.73902	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.59	5.59	0.84812	.	0.052923	0.85682	D	0.000000	T	0.37732	0.1014	M	0.69358	2.11	0.80722	D	1	P;P;B;P	0.41546	0.754;0.58;0.322;0.754	B;B;B;B	0.39339	0.297;0.185;0.185;0.297	T	0.43523	-0.9386	10	0.52906	T	0.07	-10.0323	15.7591	0.78063	1.0:0.0:0.0:0.0	.	447;356;447;445	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	A	447;445;447;356	ENSP00000446112:V447A;ENSP00000346829:V445A;ENSP00000262348:V447A;ENSP00000360015:V356A	ENSP00000262348:V447A	V	-	2	0	WLS	68382862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.915000	0.92740	2.123000	0.65237	0.528000	0.53228	GTC		0.443	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		G	68610274	A	G	68610274	3	3	253	1	0	0	0	0	1	0	0	0	17373	275	10	4	423	4	WLS	1	68610274	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	36712572	68610274	180640347	2	17991											
SLC35A3	23443	broad.mit.edu	37	chr1	100464899	100464899	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttaaacttgctattccAtcagggatctatactcttca	12	14	4	11	0	4	0	2	0	2	0	5	1	5	1	1	1	3	1	1	1	5	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:100464899A>C	ENST00000370155.3	+	3	662	c.270A>C	c.(268-270)ccA>ccC	p.P90P	SLC35A3_ENST00000370153.1_Silent_p.P132P|RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000427993.2_Silent_p.P90P|SLC35A3_ENST00000465289.1_Silent_p.P90P|SLC35A3_ENST00000370156.3_3'UTR	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	90					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTGCTATTCCATCAGGGATCT	0.308																																					Ovarian(7;298 356 944 2149 6911)	uc001dsr.1																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(394-396)ccA>ccC		Homo sapiens solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3), mRNA.							70	73	72					1																	100464899		2202	4280	6482	SO:0001819	synonymous_variant	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100464899A>C	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.270A>C	1.37:g.100464899A>C						SLC35A3_uc001dsp.1_Silent_p.P90P|SLC35A3_uc009wdy.1_Silent_p.P90P|SLC35A3_uc001dss.1_Silent_p.P9P	p.P132P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	2	497	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	90					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	37	c.396A>C	CCDS762.1																																																																																				0.308	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		C	100464899	A	C	100464899	2	2	253	1	0	0	0	0	0	0	0	1	14572	204	8	5		5	SLC35A3	1	100464899	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	31854625	100464899	148785722	3	17992											
THEM5	284486	broad.mit.edu	37	chr1	151820732	151820732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttttagaaaaggtctcGtccatcatggctgccaggga	10	10	12	9	1	2	1	1	0	1	1	4	2	3	2	2	3	1	3	2	3	3	2	rs372391484		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:151820732G>A	ENST00000368817.5	-	4	632	c.501C>T	c.(499-501)gaC>gaT	p.D167D	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	167					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587																																						uc021oyw.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(499-501)gaC>gaT		Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.		G		0,4406		0,0,2203	68	68	68		501	-5	0.8	1		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THEM5	NM_182578.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		167/248	151820732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284486						hydrolase activity	g.chr1:151820732G>A	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.501C>T	1.37:g.151820732G>A							p.D167D	NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	633	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		167					Q5T1C3	Silent	SNP	ENST00000368817.5	37	c.501C>T	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892271	0.17613	0.0	1.16E-4	ENSG00000196407	ENST00000453881	.	.	.	5.42	-4.98	0.03019	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52830	-0.8523	4	.	.	.	-22.1731	12.2909	0.54817	0.5155:0.0:0.4845:0.0	.	.	.	.	M	114	.	.	T	-	2	0	THEM5	150087356	0.045000	0.20229	0.839000	0.33178	0.925000	0.55904	-1.741000	0.01837	-1.343000	0.02219	-1.578000	0.00866	ACG		0.587	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		A	151820732	G	A	151820732	2	1	253	1	0	0	0	0	0	0	0	1	15856	1136	40	1		1	THEM5	1	151820732	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	51355833	151820732	97429889	4	17993											
CD1E	913	broad.mit.edu	37	chr1	158325309	158325309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttggtcacacctgccctcGatttctagcggggctcatgg	5	12	11	13	2	4	0	2	0	2	0	5	1	4	0	2	4	2	1	2	4	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158325309G>A	ENST00000368167.3	+	3	814	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CD1E_ENST00000434258.1_Missense_Mutation_p.R190Q|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.R93Q|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R192Q|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R192Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R192Q	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	192	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCTGCCCTCGATTTCTAGCG	0.507																																						uc001fse.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(574-576)cGa>cAa		Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.							46	48	47					1																	158325309		1913	4126	6039	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325309G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.575G>A	1.37:g.158325309G>A	ENSP00000357149:p.Arg192Gln					CD1E_uc010pid.2_Missense_Mutation_p.R190Q|CD1E_uc010pie.2_Missense_Mutation_p.R93Q|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R192Q|CD1E_uc001fsf.3_Missense_Mutation_p.R192Q|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.R93Q|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R192Q|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	p.R192Q	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	868	+	all_hematologic(112;0.0378)		192			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.575G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534209	0.45073	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36;3.36	4.37	0.16	0.14972	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.502820	0.04509	N	0.382655	T	0.01156	0.0038	N	0.20328	0.56	0.09310	N	1	P;P;B;P;B;P;B	0.45078	0.457;0.484;0.127;0.85;0.125;0.769;0.415	B;B;B;B;B;B;B	0.34779	0.008;0.015;0.009;0.189;0.015;0.091;0.047	T	0.45026	-0.9289	10	0.30078	T	0.28	-0.6373	6.3239	0.21232	0.4791:0.0:0.5209:0.0	.	93;190;93;192;192;192;192	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	Q	190;93;192;192;192;192	ENSP00000401957:R190Q;ENSP00000402906:R93Q;ENSP00000357149:R192Q;ENSP00000357145:R192Q;ENSP00000357142:R192Q;ENSP00000357143:R192Q	ENSP00000357142:R192Q	R	+	2	0	CD1E	156591933	0.000000	0.05858	0.001000	0.08648	0.285000	0.27093	-0.071000	0.11505	0.170000	0.19704	0.563000	0.77884	CGA		0.507	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		A	158325309	G	A	158325309	3	1	253	1	0	0	0	0	1	0	0	0	2978	1058	37	2	585	2	CD1E	1	158325309	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	6504577	158325309	90925312	5	17994											
SPTA1	6708	broad.mit.edu	37	chr1	158621161	158621161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagccttagttacctgcCggatttgagctccttctggt	6	13	12	10	1	1	1	0	1	1	0	2	3	2	3	4	3	4	2	4	3	2	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158621161C>T	ENST00000368147.4	-	24	3653	c.3473G>A	c.(3472-3474)cGg>cAg	p.R1158Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1158					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTACCTGCCGGATTTGAGC	0.463																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3472-3474)cGg>cAg		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							188	187	187					1																	158621161		1879	4109	5988	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158621161C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3473G>A	1.37:g.158621161C>T	ENSP00000357129:p.Arg1158Gln						p.R1158Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			23	3672	-	all_hematologic(112;0.0378)		1158					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3473G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143979	0.01728	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48522	0.81;0.81	4.66	-0.524	0.11920	.	.	.	.	.	T	0.04543	0.0124	N	0.02142	-0.665	0.25423	N	0.988252	B	0.13594	0.008	B	0.14578	0.011	T	0.45205	-0.9277	9	0.02654	T	1	.	8.0717	0.30693	0.0:0.3973:0.0:0.6027	.	1158	P02549	SPTA1_HUMAN	Q	1158	ENSP00000357130:R1158Q;ENSP00000357129:R1158Q	ENSP00000357129:R1158Q	R	-	2	0	SPTA1	156887785	0.393000	0.25237	0.035000	0.18076	0.403000	0.30841	0.966000	0.29331	0.018000	0.15052	-0.136000	0.14681	CGG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158621161	C	T	158621161	3	4	253	1	0	0	0	0	1	0	0	0	15115	652	23	2	3902	2	SPTA1	1	158621161	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	295852	158621161	90629460	6	17995											
SLAMF6	114836	broad.mit.edu	37	chr1	160461161	160461161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgtgattggtaacttGtatgttcctcagttgtcctg	6	17	10	8	0	1	2	1	2	0	0	3	2	3	2	2	1	1	4	2	1	2	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:160461161G>T	ENST00000368057.3	-	3	460	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q23K|SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q134K			Q96DU3	SLAF6_HUMAN	SLAM family member 6	134	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGGTAACTTGTATGTTCCTC	0.418																																						uc001fwe.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(400-402)Caa>Aaa		Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.							95	92	93					1																	160461161		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160461161G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.400C>A	1.37:g.160461161G>T	ENSP00000357036:p.Gln134Lys					SLAMF6_uc010pji.2_Missense_Mutation_p.Q23K|SLAMF6_uc001fwd.2_Missense_Mutation_p.Q134K|SLAMF6_uc010pjh.2_Missense_Mutation_p.Q85K|SLAMF6_uc010pjj.2_Missense_Mutation_p.Q23K|SLAMF6_uc009wtm.2_Missense_Mutation_p.Q85K	p.Q134K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	470	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		134			Ig-like.		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.400C>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	9.732	1.162415	0.21538	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.29917	1.55;1.55;1.55	4.37	-3.22	0.05125	Immunoglobulin-like fold (1);	1.391060	0.04216	N	0.332626	T	0.06234	0.0161	N	0.17345	0.48	0.09310	N	1	P;P;P;P;P;P	0.49307	0.828;0.828;0.922;0.695;0.741;0.741	B;P;B;B;B;B	0.47251	0.437;0.542;0.27;0.149;0.232;0.232	T	0.10567	-1.0624	10	0.02654	T	1	0.1902	7.9906	0.30237	0.0:0.2568:0.211:0.5322	.	23;23;85;134;134;134	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	K	134;134;23	ENSP00000357038:Q134K;ENSP00000357036:Q134K;ENSP00000357034:Q23K	ENSP00000357034:Q23K	Q	-	1	0	SLAMF6	158727785	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.275000	0.08525	-0.738000	0.04817	-0.169000	0.13324	CAA		0.418	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		T	160461161	G	T	160461161	3	4	253	1	0	0	0	0	1	0	0	0	14368	1386	48	5	622	5	SLAMF6	1	160461161	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	1840000	160461161	88789460	7	17996											
C1orf14	81626	broad.mit.edu	37	chr1	182898838	182898838	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagtctttccaaattctcTttttcctttcctacgcctca	7	19	2	13	1	3	0	1	0	2	0	7	0	6	0	4	0	1	0	4	0	4	8			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:182898838T>A	ENST00000367547.3	-	6	1362	c.1126A>T	c.(1126-1128)Aga>Tga	p.R376*	SHCBP1L_ENST00000423786.1_Nonsense_Mutation_p.R257*|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	448										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCAAATTCTCTTTTTCCTTTC	0.279																																						uc001gpu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1126-1128)Aga>Tga		Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.							105	103	104					1																	182898838		2202	4300	6502	SO:0001587	stop_gained	81626							g.chr1:182898838T>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1126A>T	1.37:g.182898838T>A	ENSP00000356518:p.Arg376*					SHCBP1L_uc001gpv.3_Nonsense_Mutation_p.R257*|SHCBP1L_uc010pnz.2_Nonsense_Mutation_p.R234*|SHCBP1L_uc001gpw.3_Nonsense_Mutation_p.R96*	p.R376*	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN			5	1411	-			448					Q4G195|Q9BZQ3|Q9H2B6	Nonsense_Mutation	SNP	ENST00000367547.3	37	c.1126A>T	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	T	33	5.272838	0.95429	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	.	.	.	5.88	3.44	0.39384	.	0.287039	0.30210	N	0.010159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8964	10.8788	0.46927	0.0:0.0:0.3016:0.6984	.	.	.	.	X	376;445;257	.	ENSP00000287709:R445X	R	-	1	2	SHCBP1L	181165461	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	4.578000	0.60929	0.425000	0.26087	0.524000	0.50904	AGA		0.279	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		A	182898838	T	A	182898838	4	1	253	1	0	0	0	0	0	1	0	0	2000	1617	56	5	855	5	C1orf14	1	182898838	Nonsense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	22437677	182898838	66351783	8	17997											
NCF2	4688	broad.mit.edu	37	chr1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttagacaccatgtcccGgacctggctgtaggggagcc	7	10	12	12	1	1	1	0	0	1	1	2	3	2	3	4	4	1	2	4	4	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:183532621G>A	ENST00000367535.3	-	12	1377	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_ENST00000418089.1_Missense_Mutation_p.R295W|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000413720.1_Missense_Mutation_p.R331W|NCF2_ENST00000367536.1_Missense_Mutation_p.R376W	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	376	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCATGTCCCGGACCTGGCTG	0.567																																						uc001gqj.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1126-1128)Cgg>Tgg		Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.							113	114	113					1																	183532621		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532621G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1126C>T	1.37:g.183532621G>A	ENSP00000356505:p.Arg376Trp					NCF2_uc010pod.2_Missense_Mutation_p.R331W|NCF2_uc010poe.2_Missense_Mutation_p.R295W|NCF2_uc001gqk.4_Missense_Mutation_p.R376W	p.R376W	NM_000433	NP_001121123	P19878	NCF2_HUMAN			11	1401	-			376			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1126C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175984	0.38413	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.47	3.26	0.37387	Phox/Bem1p (2);	0.448192	0.23563	N	0.046831	T	0.20618	0.0496	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18310	0.009;0.027;0.002	B;B;B	0.14578	0.008;0.011;0.007	T	0.13522	-1.0506	10	0.37606	T	0.19	0.9419	9.8752	0.41200	0.2379:0.0:0.7621:0.0	.	295;331;376	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	376;448;331;295;376;27;115	ENSP00000356506:R376W;ENSP00000399294:R331W;ENSP00000407217:R295W;ENSP00000356505:R376W;ENSP00000397228:R27W;ENSP00000406198:R115W	ENSP00000356505:R376W	R	-	1	2	NCF2	181799244	0.144000	0.22641	0.060000	0.19600	0.964000	0.63967	0.551000	0.23361	1.321000	0.45227	0.650000	0.86243	CGG		0.567	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		A	183532621	G	A	183532621	3	1	253	1	0	0	0	0	1	0	0	0	10217	1115	39	2	470	2	NCF2	1	183532621	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	633783	183532621	65718000	9	17998											
CFHR5	81494	broad.mit.edu	37	chr1	196977626	196977626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttcagatccatgtgTggtatctgaagaaaacatga	12	14	8	7	0	4	4	1	2	3	2	5	4	5	4	1	1	1	1	1	1	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:196977626T>C	ENST00000256785.4	+	10	1632	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A	CFHR5_ENST00000367414.5_Missense_Mutation_p.V532A			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	508	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GATCCATGTGTGGTATCTGAA	0.289																																						uc001gts.4																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1522-1524)gTg>gCg		Homo sapiens complement factor H-related 5 (CFHR5), mRNA.							41	39	40					1																	196977626		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977626T>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1523T>C	1.37:g.196977626T>C	ENSP00000256785:p.Val508Ala						p.V508A	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			9	1651	+			508			Sushi 9.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1523T>C	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	9.813	1.183728	0.21870	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.47177	0.85;0.85	4.23	2.85	0.33270	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.35799	0.0944	L	0.59912	1.85	0.09310	N	1	P	0.36378	0.55	B	0.34452	0.183	T	0.15037	-1.0451	9	0.14252	T	0.57	.	4.2925	0.10885	0.0:0.207:0.0:0.793	.	508	Q9BXR6	FHR5_HUMAN	A	532;508	ENSP00000356384:V532A;ENSP00000256785:V508A	ENSP00000256785:V508A	V	+	2	0	CFHR5	195244249	0.129000	0.22400	0.453000	0.27007	0.011000	0.07611	0.513000	0.22770	1.675000	0.50919	0.459000	0.35465	GTG		0.289	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		C	196977626	T	C	196977626	3	2	253	1	0	0	0	0	1	0	0	0	3288	1696	59	4	1561	4	CFHR5	1	196977626	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	13445005	196977626	52272995	10	17999											
USH2A	7399	broad.mit.edu	37	chr1	216498789	216498789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcttcaggattcaacCgtgacactctattatcagct	10	12	9	10	1	4	1	3	1	1	0	4	3	4	2	1	2	2	2	1	2	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:216498789C>T	ENST00000307340.3	-	6	1387	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R334Q|USH2A_ENST00000366942.3_Missense_Mutation_p.R334Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	334	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		R -> Q (in USH2A). {ECO:0000269|PubMed:17405132}.|R -> W (in USH2A). {ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGATTCAACCGTGACACTCT	0.468										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM073403	USH2A	M		c.(1000-1002)cGg>cAg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							111	100	103					1																	216498789		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498789C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1001G>A	1.37:g.216498789C>T	ENSP00000305941:p.Arg334Gln	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.R334Q	p.R334Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	5	1388	-			334		R -> Q (in USH2A).|R -> W (in USH2A).	Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1001G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065200	0.93898	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.21734	2.38;2.37;1.99	5.36	5.36	0.76844	Laminin, N-terminal (2);	0.000000	0.41500	D	0.000870	T	0.53530	0.1802	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.59177	-0.7503	10	0.59425	D	0.04	.	19.0927	0.93233	0.0:1.0:0.0:0.0	.	334;334	O75445-2;O75445	.;USH2A_HUMAN	Q	334	ENSP00000305941:R334Q;ENSP00000355910:R334Q;ENSP00000355909:R334Q	ENSP00000305941:R334Q	R	-	2	0	USH2A	214565412	1.000000	0.71417	0.991000	0.47740	0.647000	0.38526	5.782000	0.68973	2.510000	0.84645	0.650000	0.86243	CGG		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216498789	C	T	216498789	3	4	253	1	0	0	0	0	1	0	0	0	17033	652	23	2	14889	2	USH2A	1	216498789	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	19521163	216498789	32751832	11	18000											
OR14A16	284532	broad.mit.edu	37	chr1	247978682	247978682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagcagtatagcggtcaaagGacatcaccgtgaggaggagc	13	6	14	8	2	2	1	2	1	0	0	2	4	2	4	1	4	3	2	1	4	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:247978682G>A	ENST00000357627.1	-	1	349	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCGGTCAAAGGACATCACCGT	0.483																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(349-351)tCc>tTc		Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.							115	107	110					1																	247978682		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978682G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.350C>T	1.37:g.247978682G>A	ENSP00000350248:p.Ser117Phe						p.S117F	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			0	350	-			117					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.350C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.803066	0.50315	.	.	ENSG00000196772	ENST00000357627	T	0.51071	0.72	3.51	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.538297	0.14870	U	0.293574	T	0.67477	0.2897	H	0.96547	3.84	0.24484	N	0.994335	P	0.47409	0.895	P	0.47786	0.557	T	0.66693	-0.5859	10	0.87932	D	0	.	13.5281	0.61607	0.0:0.4238:0.5762:0.0	.	117	Q8NHC5	O14AG_HUMAN	F	117	ENSP00000350248:S117F	ENSP00000350248:S117F	S	-	2	0	OR14A16	246045305	0.910000	0.30920	0.198000	0.23420	0.755000	0.42902	3.164000	0.50770	0.102000	0.17638	0.590000	0.80494	TCC		0.483	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		A	247978682	G	A	247978682	3	1	253	1	0	0	0	0	1	0	0	0	10945	1174	41	3	583	3	OR14A16	1	247978682	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	31479893	247978682	1271939	12	18001											
OR2L13	284521	broad.mit.edu	37	chr1	248263535	248263535	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccccatgctcaatccCattatctacagcctgaggaa	11	10	5	15	0	2	1	1	1	1	0	3	2	3	2	4	1	4	1	4	1	5	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:248263535C>A	ENST00000358120.2	+	2	1003	c.858C>A	c.(856-858)ccC>ccA	p.P286P	OR2L13_ENST00000366478.2_Silent_p.P286P			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P286P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCTCAATCCCATTATCTACA	0.493																																						uc001ids.3																			2	Substitution - coding silent(2)	p.P286P(3)|p.P286S(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(856-858)ccC>ccA		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							69	70	70					1																	248263535		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263535C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.858C>A	1.37:g.248263535C>A						OR2L13_uc021pmc.1_Silent_p.P286P	p.P286P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	1195	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		286					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.858C>A	CCDS1637.1																																																																																				0.493	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		A	248263535	C	A	248263535	2	1	253	1	0	0	0	0	0	0	0	1	11006	581	21	5		5	OR2L13	1	248263535	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	284853	248263535	987086	13	18002											
SOS1	6654	broad.mit.edu	37	chr2	39250170	39250170	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatttacagcaaatcattaAgccatcaaagagaaatatgt	18	11	6	6	0	2	2	2	1	0	1	2	3	2	2	1	0	3	1	1	0	6	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:39250170A>C	ENST00000426016.1	-	11	1485	c.1399T>G	c.(1399-1401)Tta>Gta	p.L467V	SOS1_ENST00000402219.2_Missense_Mutation_p.L467V|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.L467V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	467	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CAAATCATTAAGCCATCAAAG	0.378									Noonan syndrome																													uc002rrk.4																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1399-1401)Tta>Gta		Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.							102	98	99					2																	39250170		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250170A>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1399T>G	2.37:g.39250170A>C	ENSP00000387784:p.Leu467Val					SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.L81V|SOS1_uc002rrl.3_Missense_Mutation_p.L199V	p.L467V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			9	1440	-		all_hematologic(82;0.21)	467			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1399T>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699998	0.48307	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.73897	-0.79;-0.79;-0.79	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.80864	0.4705	M	0.71581	2.175	0.80722	D	1	P;P	0.52842	0.869;0.956	P;P	0.56563	0.505;0.801	T	0.81812	-0.0761	10	0.51188	T	0.08	.	10.7017	0.45931	0.925:0.0:0.075:0.0	.	199;467	F5GX06;Q07889	.;SOS1_HUMAN	V	467;467;199;467;467	ENSP00000387784:L467V;ENSP00000384675:L467V;ENSP00000378479:L467V	ENSP00000263879:L467V	L	-	1	2	SOS1	39103674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.192000	0.42649	2.131000	0.65755	0.455000	0.32223	TTA		0.378	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		C	39250170	A	C	39250170	3	2	253	1	0	0	0	0	1	0	0	0	14936	69	3	5	2658	5	SOS1	2	39250170	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08		39250170	203949203	14	18003											
TGFA	7039	broad.mit.edu	37	chr2	70742023	70742023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgctgttctccaaggccTggcacgcagccaacacaata	11	7	9	14	2	1	0	0	0	1	0	2	0	1	0	3	2	3	4	3	2	4	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:70742023T>C	ENST00000295400.6	-	2	309	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	TGFA_ENST00000444975.1_Missense_Mutation_p.Q27R|TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000445399.1_Missense_Mutation_p.Q21R|TGFA_ENST00000418333.2_Missense_Mutation_p.Q21R|TGFA_ENST00000450929.1_Missense_Mutation_p.Q27R	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	21					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTCCAAGGCCTGGCACGCAGC	0.607																																						uc002sgs.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(61-63)cAg>cGg		Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.							78	67	71					2																	70742023		2203	4300	6503	SO:0001583	missense	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70742023T>C		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.62A>G	2.37:g.70742023T>C	ENSP00000295400:p.Gln21Arg					TGFA_uc010fdq.3_Missense_Mutation_p.Q27R|TGFA_uc010fdr.3_Missense_Mutation_p.Q27R|TGFA_uc002sgt.4_Missense_Mutation_p.Q21R|TGFA_uc002sgu.3_Missense_Mutation_p.Q21R|TGFA_uc002sgv.3_Missense_Mutation_p.Q21R|TGFA_uc002sgw.3_Missense_Mutation_p.Q21R	p.Q21R	NM_003236	NP_003227	P01135	TGFA_HUMAN			1	310	-			21					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	c.62A>G	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051610	0.55218	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.18810	2.52;2.23;2.23;2.2;2.19;2.24	5.14	5.14	0.70334	.	0.085567	0.50627	D	0.000112	T	0.35508	0.0934	L	0.47716	1.5	0.30030	N	0.813544	D;D;D;D;P;P;P	0.57899	0.981;0.981;0.981;0.981;0.908;0.908;0.908	D;D;D;D;P;P;P	0.70487	0.969;0.969;0.969;0.969;0.888;0.888;0.888	T	0.13522	-1.0506	10	0.30078	T	0.28	.	11.5282	0.50593	0.0:0.0:0.0:1.0	.	27;27;21;21;21;21;21	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	R	21;21;21;27;27;21	ENSP00000295400:Q21R;ENSP00000387493:Q21R;ENSP00000404099:Q21R;ENSP00000414127:Q27R;ENSP00000404131:Q27R;ENSP00000377787:Q21R	ENSP00000295400:Q21R	Q	-	2	0	TGFA	70595531	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	3.692000	0.54727	2.288000	0.76882	0.533000	0.62120	CAG		0.607	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			C	70742023	T	C	70742023	3	2	253	1	0	0	0	0	1	0	0	0	15812	1580	55	4	440	4	TGFA	2	70742023	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	31491853	70742023	172457350	15	18004											
ZNF638	27332	broad.mit.edu	37	chr2	71576267	71576267	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctggccatgaatcttaTcagaacatggggccacagag	11	10	11	9	0	2	3	1	1	1	2	2	3	2	3	2	3	2	1	2	3	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:71576267T>C	ENST00000409544.1	+	2	813	c.183T>C	c.(181-183)taT>taC	p.Y61Y	ZNF638_ENST00000377802.2_Silent_p.Y61Y|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.Y61Y|ZNF638_ENST00000355812.3_Silent_p.Y61Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	61					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATGAATCTTATCAGAACATGG	0.448																																						uc002shx.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(181-183)taT>taC		Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.							107	106	107					2																	71576267		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576267T>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.183T>C	2.37:g.71576267T>C						ZNF638_uc010fec.2_Silent_p.Y167Y|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.Y61Y|ZNF638_uc002shz.3_Silent_p.Y61Y|ZNF638_uc002shy.3_Silent_p.Y61Y|ZNF638_uc002sia.3_Silent_p.Y61Y|ZNF638_uc002sib.1_Silent_p.Y61Y	p.Y61Y	NM_014497	NP_055312	Q14966	ZN638_HUMAN			1	506	+			61					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.183T>C	CCDS1917.1																																																																																				0.448	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		C	71576267	T	C	71576267	2	2	253	1	0	0	0	0	0	0	0	1	18052	1442	50	4		4	ZNF638	2	71576267	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08	834244	71576267	171623106	16	18005											
TTC30A	92104	broad.mit.edu	37	chr2	178481798	178481798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatcaccaaattcacaatGcagagatggtacattttccg	13	11	6	11	1	2	1	2	0	0	1	3	2	3	1	3	1	2	2	3	1	4	5	rs150534803		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:178481798G>A	ENST00000355689.5	-	1	1896	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	544					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AATTCACAATGCAGAGATGGT	0.383																																						uc002ulo.3																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1630-1632)tgC>tgT		Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.		G		0,4406		0,0,2203	212	226	221		1632	4.1	1	2	dbSNP_134	221	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTC30A	NM_152275.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		544/666	178481798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178481798G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1632C>T	2.37:g.178481798G>A							p.C544C	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		0	1897	-			544					A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.1632C>T	CCDS2276.1																																																																																				0.383	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		A	178481798	G	A	178481798	2	1	253	1	0	0	0	0	0	0	0	1	16695	1311	46	3		3	TTC30A	2	178481798	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	106905531	178481798	64717575	17	18006											
TTN	7273	broad.mit.edu	37	chr2	179417389	179417389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgtcttacttatgccagCgtgggaccacgtctgttcac	8	12	9	12	2	3	0	1	0	2	0	3	1	3	1	2	1	3	1	2	1	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179417389C>T	ENST00000591111.1	-	285	85539	c.85315G>A	c.(85315-85317)Gct>Act	p.A28439T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21140T|TTN_ENST00000460472.2_Missense_Mutation_p.A21015T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21207T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27512T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30080T|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28439	Fibronectin type-III 107. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGCCAGCGTGGGACCAC	0.453																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82534-82536)Gct>Act		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							110	101	104					2																	179417389		2035	4171	6206	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417389C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85315G>A	2.37:g.179417389C>T	ENSP00000465570:p.Ala28439Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21207T|TTN_uc021vta.1_Missense_Mutation_p.A21140T|TTN_uc021vtb.1_Missense_Mutation_p.A21015T	p.A27512T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		283	82759	-			28439			Fibronectin type-III 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82534G>A		.	.	.	.	.	.	.	.	.	.	C	18.29	3.590996	0.66219	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70789	0.3264	L	0.56396	1.775	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	T	0.71119	-0.4685	9	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	21015;21140;21207;28439	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27512;21015;21207;21140;21012	ENSP00000343764:A27512T;ENSP00000434586:A21015T;ENSP00000340554:A21207T;ENSP00000352154:A21140T	ENSP00000340554:A21207T	A	-	1	0	TTN	179125635	1.000000	0.71417	0.981000	0.43875	0.689000	0.40095	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GCT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179417389	C	T	179417389	3	4	253	1	0	0	0	0	1	0	0	0	16732	768	27	1	17853	1	TTN	2	179417389	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	935591	179417389	63781984	18	18007											
TTN	7273	broad.mit.edu	37	chr2	179448529	179448529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtttgcaagcttctaCgaaatagccaataattttac	15	12	7	7	1	1	0	0	0	1	0	1	2	1	1	1	1	5	3	1	1	8	7	rs373848128		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179448529C>T	ENST00000591111.1	-	262	60681	c.60457G>A	c.(60457-60459)Gta>Ata	p.V20153I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12854I|TTN_ENST00000460472.2_Missense_Mutation_p.V12729I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V12921I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19226I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V21794I|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20153	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCTTCTACGAAATAGCCA	0.463																																						uc021vsy.1																			0		p.R19226C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57676-57678)Gta>Ata		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							60	58	59					2																	179448529		1904	4113	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179448529C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60457G>A	2.37:g.179448529C>T	ENSP00000465570:p.Val20153Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V12921I|TTN_uc021vta.1_Missense_Mutation_p.V12854I|TTN_uc021vtb.1_Missense_Mutation_p.V12729I	p.V19226I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		260	57901	-			20153			Fibronectin type-III 39.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57676G>A		.	.	.	.	.	.	.	.	.	.	C	10.64	1.407189	0.25378	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	6.11	1.31	0.21738	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39708	0.1088	N	0.17474	0.49	0.43149	D	0.994918	B;B;B;B	0.22800	0.075;0.075;0.075;0.044	B;B;B;B	0.17433	0.018;0.018;0.018;0.012	T	0.20075	-1.0286	9	0.87932	D	0	.	11.0877	0.48097	0.0:0.7027:0.0:0.2973	.	12729;12854;12921;20153	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	19226;12729;12921;12854;12727	ENSP00000343764:V19226I;ENSP00000434586:V12729I;ENSP00000340554:V12921I;ENSP00000352154:V12854I	ENSP00000340554:V12921I	V	-	1	0	TTN	179156775	0.647000	0.27304	0.168000	0.22838	0.405000	0.30901	1.369000	0.34227	-0.036000	0.13669	-0.794000	0.03295	GTA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179448529	C	T	179448529	3	4	253	1	0	0	0	0	1	0	0	0	16732	536	19	1	42803	1	TTN	2	179448529	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	31140	179448529	63750844	19	18008											
TTN	7273	broad.mit.edu	37	chr2	179515501	179515501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggggaggagactccgctCtttctggaacaggaacagct	9	8	14	10	1	2	1	0	0	2	1	3	5	3	4	1	5	3	2	1	5	2	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179515501C>G	ENST00000591111.1	-	164	35389	c.35165G>C	c.(35164-35166)aGa>aCa	p.R11722T	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10795T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13229T|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11722	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTCCGCTCTTTCTGGAAC	0.423																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(32383-32385)aGa>aCa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							49	54	52					2																	179515501		1897	4096	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179515501C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35165G>C	2.37:g.179515501C>G	ENSP00000465570:p.Arg11722Thr					MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	p.R10795T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		162	32609	-			11722			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32384G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.776783|1.776783	0.31411|0.31411	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777	.|T;T	.|0.65549	.|-0.16;-0.16	4.91|4.91	1.07|1.07	0.20283|0.20283	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.08118|0.08118	0|0	0.53005|0.53005	D|D	0.999969|0.999969	.|B	.|0.12013	.|0.005	.|B	.|0.16722	.|0.016	T|T	0.10636|0.10636	-1.0621|-1.0621	5|9	.|0.87932	.|D	.|0	.|.	6.1898|6.1898	0.20518|0.20518	0.0:0.1391:0.1348:0.7261|0.0:0.1391:0.1348:0.7261	.|.	.|11722	.|Q8WZ42	.|TITIN_HUMAN	N|T	69|10795;68;68;22	.|ENSP00000343764:R10795T;ENSP00000408004:R68T	.|ENSP00000343764:R10795T	K|R	-|-	3|2	2|0	TTN|TTN	179223746|179223746	0.013000|0.013000	0.17824|0.17824	0.019000|0.019000	0.16419|0.16419	0.015000|0.015000	0.08874|0.08874	0.150000|0.150000	0.16263|0.16263	0.003000|0.003000	0.14656|0.14656	-0.793000|-0.793000	0.03317|0.03317	AAG|AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179515501	C	G	179515501	3	3	253	1	0	0	0	0	1	0	0	0	16732	913	32	5	68201	5	TTN	2	179515501	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	66972	179515501	63683872	20	18009											
KIAA1486	57624	broad.mit.edu	37	chr2	226446762	226446762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacatctttcgatgaaaCgtacatcaaaaagcatgggc	15	8	9	9	2	2	1	1	1	1	0	3	3	2	1	0	1	4	3	0	1	4	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:226446762C>T	ENST00000272907.6	+	4	1042	c.629C>T	c.(628-630)aCg>aTg	p.T210M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	210					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TTCGATGAAACGTACATCAAA	0.577																																						uc002voe.2																			0											c.(628-630)aCg>aTg		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							128	133	131					2																	226446762		1933	4131	6064	SO:0001583	missense	57624							g.chr2:226446762C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.629C>T	2.37:g.226446762C>T	ENSP00000272907:p.Thr210Met					NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	p.T210M	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	804	+			210					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.629C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144753	0.77888	.	.	ENSG00000144460	ENST00000272907	T	0.44482	0.92	5.9	5.9	0.94986	.	0.063724	0.64402	D	0.000005	T	0.66096	0.2755	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65146	-0.6239	10	0.62326	D	0.03	-22.9858	20.3541	0.98825	0.0:1.0:0.0:0.0	.	210	Q9P242	K1486_HUMAN	M	210	ENSP00000272907:T210M	ENSP00000272907:T210M	T	+	2	0	KIAA1486	226155006	1.000000	0.71417	0.955000	0.39395	0.894000	0.52154	5.772000	0.68889	2.816000	0.96949	0.644000	0.83932	ACG		0.577	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		T	226446762	C	T	226446762	3	4	253	1	0	0	0	0	1	0	0	0	8237	536	19	1	639	1	KIAA1486	2	226446762	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	46931261	226446762	16752611	21	18010											
UGT1A4	54657	broad.mit.edu	37	chr2	234628246	234628246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggctgttccgaggggaCtttgtgatggactaccccag	6	11	15	9	1	0	1	0	1	0	0	1	4	1	3	3	4	1	2	3	4	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:234628246C>T	ENST00000373409.3	+	1	823	c.780C>T	c.(778-780)gaC>gaT	p.D260D	UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	260					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TCCGAGGGGACTTTGTGATGG	0.527																																					Melanoma(99;1011 1962 13201 26492)	uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30								Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						200	199	200					2																	234628246		2203	4300	6503	SO:0001819	synonymous_variant	54657				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234628246C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.780C>T	2.37:g.234628246C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Silent_p.D260D|UGT1A1_uc002vux.3_Silent_p.D260D		NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)			+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37		CCDS33405.1																																																																																				0.527	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		T	234628246	C	T	234628246	2	4	253	1	0	0	0	0	0	0	0	1	16944	564	20	3		3	UGT1A4	2	234628246	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	8181484	234628246	8571127	22	18011											
TATDN2	9797	broad.mit.edu	37	chr3	10302000	10302000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcatcctggggaaatcGatgccaaaaaggaagggaga	15	4	15	7	1	0	1	0	0	0	1	2	5	1	3	2	5	1	1	2	5	4	0	rs376639930		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:10302000G>A	ENST00000287652.4	+	3	1645	c.594G>A	c.(592-594)tcG>tcA	p.S198S	TATDN2_ENST00000448281.2_Silent_p.S198S|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGGGGAAATCGATGCCAAAAA	0.557													G|||	1	0.000199681	0	0	5008	,	,		18088	0		0.001	False		,,,				2504	0					uc011atr.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(592-594)tcG>tcA		Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.		G		0,4406		0,0,2203	51	53	52		594	-9.9	0	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TATDN2	NM_014760.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		198/762	10302000	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10302000G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.594G>A	3.37:g.10302000G>A						TATDN2_uc003bvg.2_Silent_p.S198S|TATDN2_uc003bvf.3_Silent_p.S198S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	p.S198S	NM_014760	NP_055575	Q93075	TATD2_HUMAN			2	1175	+			198					Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	c.594G>A	CCDS33698.1																																																																																				0.557	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		A	10302000	G	A	10302000	2	1	253	1	0	0	0	0	0	0	0	1	15589	1045	37	2		2	TATDN2	3	10302000	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		10302000	187720430	23	18012											
BSN	8927	broad.mit.edu	37	chr3	49694511	49694511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggcccccccttacacatGcagccttcattgccatggca	8	10	7	16	0	1	0	1	0	0	0	1	0	1	0	5	2	4	2	5	2	1	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:49694511G>A	ENST00000296452.4	+	5	7636	c.7522G>A	c.(7522-7524)Gca>Aca	p.A2508T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2508					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTACACATGCAGCCTTCAT	0.642																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(7522-7524)Gca>Aca		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							39	41	40					3																	49694511		2202	4297	6499	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694511G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7522G>A	3.37:g.49694511G>A	ENSP00000296452:p.Ala2508Thr						p.A2508T	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	7636	+			2508					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7522G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.201935	0.01581	.	.	ENSG00000164061	ENST00000296452	T	0.18016	2.24	4.19	-6.95	0.01628	.	1.012920	0.07910	N	0.974130	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44590	-0.9318	10	0.10377	T	0.69	0.6422	13.8655	0.63585	0.7981:0.0:0.2019:0.0	.	2508	Q9UPA5	BSN_HUMAN	T	2508	ENSP00000296452:A2508T	ENSP00000296452:A2508T	A	+	1	0	BSN	49669515	0.000000	0.05858	0.008000	0.14137	0.138000	0.21146	-0.778000	0.04664	-1.663000	0.01481	-0.367000	0.07326	GCA		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49694511	G	A	49694511	3	1	253	1	0	0	0	0	1	0	0	0	1530	1319	46	3	7540	3	BSN	3	49694511	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	39392511	49694511	148327919	24	18013											
RBM6	10180	broad.mit.edu	37	chr3	50099537	50099537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaagacagaggagtgaCgagggtaagaggaattgtta	18	6	15	2	1	0	4	0	1	0	3	0	8	0	6	0	3	0	2	0	3	6	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:50099537C>T	ENST00000266022.4	+	15	2841	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.T339M|RBM6_ENST00000539992.1_Missense_Mutation_p.T203M|RBM6_ENST00000442092.1_Missense_Mutation_p.T339M|RBM6_ENST00000443081.1_Missense_Mutation_p.T729M	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	861					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGGAGTGACGAGGGTAAGA	0.378																																						uc003cyc.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(2581-2583)aCg>aTg		Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.							100	102	102					3																	50099537		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50099537C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2582C>T	3.37:g.50099537C>T	ENSP00000266022:p.Thr861Met					RBM6_uc010hlc.2_Missense_Mutation_p.T380M|RBM6_uc003cyd.3_Missense_Mutation_p.T339M|RBM6_uc011bdi.2_Missense_Mutation_p.T203M|RBM6_uc003cye.3_Missense_Mutation_p.T339M|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	p.T861M	NM_005777	NP_001161054	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	14	2830	+			861					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.2582C>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461544	0.63513	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000438912	T;T;T;T;T	0.47528	0.84;1.41;1.41;0.86;0.84	5.03	5.03	0.67393	.	0.999489	0.08099	N	0.998065	T	0.43700	0.1259	L	0.34521	1.04	0.09310	N	0.999999	P;D	0.54047	0.896;0.964	B;B	0.43623	0.238;0.425	T	0.36529	-0.9744	9	.	.	.	-0.0603	14.6486	0.68780	0.0:1.0:0.0:0.0	.	729;861	E9PGM9;P78332	.;RBM6_HUMAN	M	339;861;729;203;339;109	ENSP00000393530:T339M;ENSP00000266022:T861M;ENSP00000396466:T729M;ENSP00000443165:T203M;ENSP00000392939:T339M	.	T	+	2	0	RBM6	50074541	0.061000	0.20836	0.032000	0.17829	0.179000	0.23085	3.445000	0.52921	2.730000	0.93505	0.650000	0.86243	ACG		0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50099537	C	T	50099537	3	4	253	1	0	0	0	0	1	0	0	0	13144	536	19	1	2636	1	RBM6	3	50099537	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	405026	50099537	147922893	25	18014											
RBM15B	29890	broad.mit.edu	37	chr3	51429849	51429850	+	Frame_Shift_Ins	INS	-	-	A																															cgggccacgcgcaacctcttINScattggtaacctggaccaca																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:51429849_51429850insA	ENST00000323686.4	+	1	1119_1120	c.1019_1020insA	c.(1018-1023)ttcattfs	p.FI340fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	340	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAACCTCTTCATTGGTAACC	0.609																																						uc003dbd.3																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1018-1020)ttcfs		Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.																																				SO:0001589	frameshift_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429849_51429850insA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	Exception_encountered	3.37:g.51429849_51429850insA	ENSP00000313890:p.Phe340fs						p.F340fs	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	0	1151_1152	+			340			RRM 2.		A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Ins	INS	ENST00000323686.4	37	c.1019_1020insA	CCDS33764.1																																																																																				0.609	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		A	51429850	-	A	51429849	7	5	253	1	0	1	1	0	0	0	0	0	13117	1783	62	0	1021	0	RBM15B	3	51429849	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08	1330312	51429849	146592581	26	18015											
CADPS	8618	broad.mit.edu	37	chr3	62467450	62467450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaaaaagtaggcatttGtgggatgcctagagggatgt	11	10	15	5	1	0	1	0	0	0	1	0	4	0	3	2	3	2	2	2	3	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:62467450G>T	ENST00000383710.4	-	22	3470	c.3121C>A	c.(3121-3123)Caa>Aaa	p.Q1041K	CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1041	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTAGGCATTTGTGGGATGCCT	0.423																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3121-3123)Caa>Aaa		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							225	212	216					3																	62467450		1911	4132	6043	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62467450G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3121C>A	3.37:g.62467450G>T	ENSP00000373215:p.Gln1041Lys					CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron|CADPS_uc021wzv.1_Intron	p.Q1041K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	21	3481	-		Lung SC(41;0.0452)	1041			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3121C>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.695190|1.695190	0.30052|0.30052	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710	.|T	.|0.28255	.|1.62	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Munc13 homology 1 (1);	.|0.138072	.|0.50627	.|D	.|0.000104	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.25105	.|0.118	.|B	.|0.22386	.|0.039	T|T	0.03443|0.03443	-1.1036|-1.1036	5|10	.|0.33141	.|T	.|0.24	.|.	17.4588|17.4588	0.87614|0.87614	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1041	.|Q9ULU8	.|CAPS1_HUMAN	Q|K	27|1041	.|ENSP00000373215:Q1041K	.|ENSP00000373214:Q1041K	H|Q	-|-	3|1	2|0	CADPS|CADPS	62442490|62442490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.641000|2.641000	0.89580|0.89580	0.563000|0.563000	0.77884|0.77884	CAC|CAA		0.423	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		T	62467450	G	T	62467450	3	4	253	1	0	0	0	0	1	0	0	0	2570	1386	48	5	976	5	CADPS	3	62467450	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	11037601	62467450	135554980	27	18016											
ROBO2	6092	broad.mit.edu	37	chr3	77671470	77671470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgatttggaaacggatgTtgcagatgatgatgccgacg	10	12	13	6	3	1	4	0	3	1	1	1	7	1	6	1	2	3	2	1	2	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:77671470T>C	ENST00000461745.1	+	23	4547	c.3647T>C	c.(3646-3648)gTt>gCt	p.V1216A	ROBO2_ENST00000487694.3_Missense_Mutation_p.V1232A|ROBO2_ENST00000332191.8_Missense_Mutation_p.V1216A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1216					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAACGGATGTTGCAGATGAT	0.488																																						uc011bgk.2																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3658-3660)gTt>gCt		Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.							128	128	128					3																	77671470		1918	4140	6058	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671470T>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3647T>C	3.37:g.77671470T>C	ENSP00000417164:p.Val1216Ala					ROBO2_uc021xat.1_Missense_Mutation_p.V1232A|ROBO2_uc003dpy.4_Missense_Mutation_p.V1216A|ROBO2_uc003dpz.3_Missense_Mutation_p.V1220A|ROBO2_uc011bgj.2_Non-coding_Transcript	p.V1220A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4302	+			1216					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3659T>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	6.086	0.384137	0.11524	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.61859	0.07;0.1;0.1	5.56	5.56	0.83823	.	0.000000	0.37715	N	0.001970	T	0.34774	0.0909	N	0.08118	0	0.28755	N	0.901237	B;B;B	0.30605	0.034;0.287;0.034	B;B;B	0.21151	0.01;0.033;0.01	T	0.44742	-0.9308	9	0.16420	T	0.52	.	15.6959	0.77499	0.0:0.0:0.0:1.0	.	1232;1216;1216	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	A	1232;1232;1216;1216	ENSP00000417335:V1232A;ENSP00000417164:V1216A;ENSP00000327536:V1216A	ENSP00000327536:V1216A	V	+	2	0	ROBO2	77754160	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	7.698000	0.84413	2.110000	0.64415	0.528000	0.53228	GTT		0.488	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		C	77671470	T	C	77671470	3	2	253	1	0	0	0	0	1	0	0	0	13514	1725	60	4	3739	4	ROBO2	3	77671470	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	15204020	77671470	120350960	28	18017											
MORC1	27136	broad.mit.edu	37	chr3	108724078	108724078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttttctgtcctctacGgctcgctgaaagctcaaagg	7	14	9	11	2	4	1	1	1	3	0	6	1	5	1	1	2	2	4	1	2	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:108724078G>A	ENST00000483760.1	-	18	1832	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MORC1_ENST00000232603.5_Missense_Mutation_p.R618C					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTCCTCTACGGCTCGCTGAA	0.363																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1852-1854)Cgt>Tgt		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							59	60	59					3																	108724078		2203	4299	6502	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724078G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1789C>T	3.37:g.108724078G>A	ENSP00000417282:p.Arg597Cys					MORC1_uc011bhn.2_Missense_Mutation_p.R597C	p.R618C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			18	1939	-			618						Missense_Mutation	SNP	ENST00000483760.1	37	c.1852C>T		.	.	.	.	.	.	.	.	.	.	G	10.39	1.338286	0.24253	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06849	3.31;3.25	4.36	2.54	0.30619	.	0.474972	0.17993	N	0.155154	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	P;B	0.40931	0.733;0.431	B;B	0.31547	0.132;0.131	T	0.39663	-0.9603	10	0.54805	T	0.06	1.1908	7.2089	0.25923	0.2043:0.0:0.7957:0.0	.	597;618	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	618;597	ENSP00000232603:R618C;ENSP00000417282:R597C	ENSP00000232603:R618C	R	-	1	0	MORC1	110206768	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.570000	0.23653	0.757000	0.33036	0.650000	0.86243	CGT		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108724078	G	A	108724078	3	1	253	1	0	0	0	0	1	0	0	0	9701	1116	39	2	1142	2	MORC1	3	108724078	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	31052608	108724078	89298352	29	18018											
ECT2	1894	broad.mit.edu	37	chr3	172501613	172501613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagatttggtaaaaacctacCctccctttgtaaacttcttt	12	15	4	10	0	1	1	0	0	1	1	2	1	2	1	3	1	3	2	3	1	7	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:172501613C>G	ENST00000392692.3	+	16	1818	c.1642C>G	c.(1642-1644)Cct>Gct	p.P548A	ECT2_ENST00000417960.1_Missense_Mutation_p.P516A|ECT2_ENST00000232458.5_Missense_Mutation_p.P517A|ECT2_ENST00000427830.1_Missense_Mutation_p.P517A|ECT2_ENST00000540509.1_Missense_Mutation_p.P548A|ECT2_ENST00000441497.2_Missense_Mutation_p.P517A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	548	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAACCTACCCTCCCTTTGT	0.308																																						uc003fii.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1549-1551)Cct>Gct		Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.							71	78	76					3																	172501613		2202	4290	6492	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172501613C>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1642C>G	3.37:g.172501613C>G	ENSP00000376457:p.Pro548Ala					ECT2_uc010hwv.1_Missense_Mutation_p.P548A|ECT2_uc003fih.2_Missense_Mutation_p.P516A|ECT2_uc003fij.1_Missense_Mutation_p.P517A|ECT2_uc003fik.1_Missense_Mutation_p.P517A|ECT2_uc003fil.1_Missense_Mutation_p.P548A	p.P517A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		14	1687	+	Ovarian(172;0.00197)|Breast(254;0.158)		517			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1549C>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938491	0.92526	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	5.98	5.98	0.97165	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.996;0.982	D;D;D;D	0.91635	0.98;0.999;0.977;0.931	T	0.74197	-0.3743	10	0.72032	D	0.01	-20.6523	20.0532	0.97636	0.0:1.0:0.0:0.0	.	548;548;517;516	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	A	517;548;517;516;517;548	ENSP00000232458:P517A;ENSP00000376457:P548A;ENSP00000401910:P517A;ENSP00000415876:P516A;ENSP00000412259:P517A;ENSP00000443160:P548A	ENSP00000232458:P517A	P	+	1	0	ECT2	173984307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.176000	0.77643	2.835000	0.97688	0.650000	0.86243	CCT		0.308	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		G	172501613	C	G	172501613	3	3	253	1	0	0	0	0	1	0	0	0	4901	623	22	5	1603	5	ECT2	3	172501613	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	63777535	172501613	25520817	30	18019											
TP63	8626	broad.mit.edu	37	chr3	189582022	189582022	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccccaactctaagcagtAttccactgaactgaagaaac	14	8	7	12	0	1	3	0	2	1	1	2	3	2	3	3	1	4	2	3	1	6	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:189582022A>C	ENST00000264731.3	+	5	670	c.581A>C	c.(580-582)tAt>tCt	p.Y194S	TP63_ENST00000449992.1_Splice_Site_p.Y15S|TP63_ENST00000320472.5_Splice_Site_p.Y194S|TP63_ENST00000418709.2_Splice_Site_p.Y194S|TP63_ENST00000440651.2_Splice_Site_p.Y194S|TP63_ENST00000456148.1_Splice_Site_p.Y100S|TP63_ENST00000392463.2_Splice_Site_p.Y100S|TP63_ENST00000437221.1_Splice_Site_p.Y100S|TP63_ENST00000354600.5_Splice_Site_p.Y100S|TP63_ENST00000382063.4_Splice_Site_p.Y109S|TP63_ENST00000392460.3_Splice_Site_p.Y194S|TP63_ENST00000392461.3_Splice_Site_p.Y100S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	194					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTAAGCAGTATTCCACTGAA	0.463										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.e5-1		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							175	183	181					3																	189582022		2203	4300	6503	SO:0001630	splice_region_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582022A>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.580-1A>C	3.37:g.189582022A>C		HNSCC(45;0.13)				TP63_uc003frx.2_Splice_Site_p.Y194_splice|TP63_uc003frz.2_Splice_Site_p.Y194_splice|TP63_uc010hzc.1_Splice_Site_p.Y194_splice|TP63_uc003fsa.2_Splice_Site_p.Y100_splice|TP63_uc003fsb.2_Splice_Site_p.Y100_splice|TP63_uc003fsc.2_Splice_Site_p.Y100_splice|TP63_uc003fsd.2_Splice_Site_p.Y100_splice|TP63_uc021xir.1_Splice_Site_p.Y100_splice|TP63_uc010hzd.1_Splice_Site_p.Y15_splice|TP63_uc003fse.1_Splice_Site_p.Y75_splice	p.Y194_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	669	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		194					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.580_splice	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409178	0.83340	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;T;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;2.6;-7.32;-7.32;-7.32;-7.32;-7.32	5.36	5.36	0.76844	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.84948	2.725	0.80722	D	1	D;D;D;P;D;P;P;D;D;D	0.89917	1.0;0.977;0.959;0.922;0.959;0.922;0.937;0.959;1.0;0.959	D;D;D;P;P;P;P;D;D;P	0.97110	1.0;0.934;0.948;0.904;0.834;0.834;0.897;0.93;0.999;0.834	D	0.96607	0.9449	9	.	.	.	-7.229	14.8154	0.70031	1.0:0.0:0.0:0.0	.	15;194;194;100;100;100;100;194;194;194	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	S	194;194;194;194;194;109;100;172;100;100;100;15;100	ENSP00000264731:Y194S;ENSP00000407144:Y194S;ENSP00000317510:Y194S;ENSP00000376253:Y194S;ENSP00000394337:Y194S;ENSP00000371495:Y109S;ENSP00000346614:Y100S;ENSP00000401661:Y172S;ENSP00000392488:Y100S;ENSP00000376256:Y100S;ENSP00000376254:Y100S;ENSP00000387839:Y15S;ENSP00000389485:Y100S	.	Y	+	2	0	TP63	191064716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.245000	0.95431	2.151000	0.67156	0.533000	0.62120	TAT		0.463	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	Missense_Mutation	C	189582022	A	C	189582022	5	2	253	1	0	0	0	0	0	0	1	0	16389	463	16	5	645	5	TP63	3	189582022	Splice_Site	SNP	A	TCGA-74-6575-01A-11D-1845-08	17080409	189582022	8440408	31	18020											
CPN2	1370	broad.mit.edu	37	chr3	194062052	194062052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccctgccttgctttcGtccggccacgtgacctggaa	4	10	10	17	3	0	1	0	1	0	0	2	2	1	2	6	2	3	1	6	2	1	2	rs369348669		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194062052G>A	ENST00000323830.3	-	2	1469	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CPN2_ENST00000429275.1_Silent_p.D460D	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	460					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		18403	0		0	False		,,,				2504	0					uc003fts.3																			0		p.P459P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1378-1380)gaC>gaT		Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	65	68	67		1380	-8.4	0	3		67	0,8600		0,0,4300	no	coding-synonymous	CPN2	NM_001080513.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		460/546	194062052	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062052G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1380C>T	3.37:g.194062052G>A						CPN2_uc021xix.1_Silent_p.D460D	p.D460D	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	1	1470	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		460					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1380C>T	CCDS33920.1																																																																																				0.657	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194062052	G	A	194062052	2	1	253	1	0	0	0	0	0	0	0	1	3810	1136	40	1		1	CPN2	3	194062052	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	4480030	194062052	3960378	32	18021											
ATP13A3	79572	broad.mit.edu	37	chr3	194165469	194165469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaccgtgcattttccactCgttgaatcccccaaagatct	9	14	5	13	2	1	2	0	1	1	1	4	2	3	2	4	0	2	2	4	0	3	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194165469C>T	ENST00000439040.1	-	15	2335	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R515Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	515						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTTCCACTCGTTGAATCCC	0.308																																						uc003fty.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1543-1545)cGa>cAa		Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.							123	115	118					3																	194165469		1815	4074	5889	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194165469C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1544G>A	3.37:g.194165469C>T	ENSP00000416508:p.Arg515Gln					ATP13A3_uc003ftz.1_Missense_Mutation_p.R221Q	p.R515Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	13	1946	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	515					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1544G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033286	0.75504	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.66280	-0.2;-0.2	5.38	5.38	0.77491	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.107759	0.64402	D	0.000013	T	0.53883	0.1824	L	0.36672	1.1	0.58432	D	0.999991	B	0.13145	0.007	B	0.17098	0.017	T	0.49283	-0.8956	10	0.14656	T	0.56	-3.1724	19.18	0.93619	0.0:1.0:0.0:0.0	.	515	Q9H7F0	AT133_HUMAN	Q	515;515;253	ENSP00000416508:R515Q;ENSP00000256031:R515Q	ENSP00000256031:R515Q	R	-	2	0	ATP13A3	195646758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.119000	0.64679	2.529000	0.85273	0.585000	0.79938	CGA		0.308	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		T	194165469	C	T	194165469	3	4	253	1	0	0	0	0	1	0	0	0	1125	884	31	2	2212	2	ATP13A3	3	194165469	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	103417	194165469	3856961	33	18022											
FRAS1	80144	broad.mit.edu	37	chr4	79236806	79236806	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgtcttacctgtacTgagaagacagtgctgcatga	10	10	11	10	0	1	3	0	2	1	2	1	4	1	3	2	1	4	3	2	1	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79236806T>G	ENST00000325942.6	+	16	2177	c.1737T>G	c.(1735-1737)acT>acG	p.T579T	FRAS1_ENST00000264899.6_Silent_p.T579T|FRAS1_ENST00000264895.6_Silent_p.T579T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	579					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTACCTGTACTGAGAAGACAG	0.517																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1735-1737)acT>acG		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							164	154	157					4																	79236806		1966	4159	6125	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79236806T>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1737T>G	4.37:g.79236806T>G						FRAS1_uc003hkw.3_Silent_p.T579T|FRAS1_uc003hky.1_Silent_p.T283T|FRAS1_uc003hkz.3_Silent_p.T283T|FRAS1_uc003hla.1_Silent_p.T90T	p.T579T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			15	2177	+			579					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.1737T>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.049|0.049	-1.257124|-1.257124	0.01457|0.01457	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.86|5.86	0.589|0.589	0.17452|0.17452	.|.	.|.	.|.	.|.	.|.	T|.	0.21103|.	0.0508|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22556|.	-1.0213|.	4|.	.|.	.|.	.|.	.|.	1.7356|1.7356	0.02941|0.02941	0.1319:0.1322:0.2743:0.4616|0.1319:0.1322:0.2743:0.4616	.|.	.|.	.|.	.|.	R|G	508|422	.|.	.|.	L|X	+|+	2|1	0|0	FRAS1|FRAS1	79455830|79455830	0.024000|0.024000	0.19004|0.19004	0.017000|0.017000	0.16124|0.16124	0.008000|0.008000	0.06430|0.06430	0.251000|0.251000	0.18257|0.18257	0.106000|0.106000	0.17784|0.17784	0.528000|0.528000	0.53228|0.53228	CTG|TGA		0.517	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	79236806	T	G	79236806	2	3	253	1	0	0	0	0	0	0	0	1	6042	1567	55	5		5	FRAS1	4	79236806	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08		79236806	111917470	34	18023											
FRAS1	80144	broad.mit.edu	37	chr4	79400786	79400786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcattggaagggtggCgacagccaaggtgctcatta	9	8	14	10	2	1	0	1	0	0	0	1	2	1	1	2	4	3	2	2	4	3	2	rs199895644		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79400786C>T	ENST00000264895.6	+	56	8797	c.8357C>T	c.(8356-8358)gCg>gTg	p.A2786V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2782	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGAAGGGTGGCGACAGCCAAG	0.522																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8356-8358)gCg>gTg		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		C	VAL/ALA	0,4154		0,0,2077	89	94	93		8357	5.9	1	4		93	1,8405		0,1,4202	yes	missense	FRAS1	NM_025074.6	64	0,1,6279	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	2786/4013	79400786	1,12559	2077	4203	6280	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400786C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8357C>T	4.37:g.79400786C>T	ENSP00000264895:p.Ala2786Val						p.A2786V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			55	8797	+			2781			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8357C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326631	0.41197	0.0	1.19E-4	ENSG00000138759	ENST00000264895	T	0.28454	1.61	5.94	5.94	0.96194	.	0.252983	0.39687	N	0.001297	T	0.30634	0.0771	L	0.52573	1.65	0.80722	D	1	P	0.43607	0.812	B	0.34093	0.175	T	0.11494	-1.0585	10	0.56958	D	0.05	.	20.4384	0.99098	0.0:1.0:0.0:0.0	.	2786	E9PHH6	.	V	2786	ENSP00000264895:A2786V	ENSP00000264895:A2786V	A	+	2	0	FRAS1	79619810	1.000000	0.71417	0.952000	0.39060	0.024000	0.10985	5.941000	0.70195	2.831000	0.97527	0.644000	0.83932	GCG		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79400786	C	T	79400786	3	4	253	1	0	0	0	0	1	0	0	0	6042	768	27	1	8654	1	FRAS1	4	79400786	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	163980	79400786	111753490	35	18024											
FHDC1	85462	broad.mit.edu	37	chr4	153881743	153881743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaaaagcgtttagtggCgacgtgtcgaagctgtctct	10	12	12	7	4	1	0	0	0	1	0	3	2	1	0	0	1	2	3	0	1	5	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:153881743C>T	ENST00000511601.1	+	5	878	c.690C>T	c.(688-690)ggC>ggT	p.G230G	FHDC1_ENST00000260008.3_Silent_p.G230G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.G230G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373																																						uc003inf.2																		ARFIP1/FHDC1(2)	1	Substitution - coding silent(1)	p.G230G(2)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(688-690)ggC>ggT		Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.							119	114	116					4																	153881743		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153881743C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.690C>T	4.37:g.153881743C>T							p.G230G	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			3	765	+	all_hematologic(180;0.093)		230			FH2.			Silent	SNP	ENST00000511601.1	37	c.690C>T	CCDS34081.1																																																																																				0.373	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		T	153881743	C	T	153881743	2	4	253	1	0	0	0	0	0	0	0	1	5876	755	27	1		1	FHDC1	4	153881743	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	74480957	153881743	37272533	36	18025											
TLR3	7098	broad.mit.edu	37	chr4	187003807	187003807	+	Frame_Shift_Del	DEL	A	A	-																															actctttgcacgggcttttcAatgtgaggtacctgaatttg																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:187003807delA	ENST00000296795.3	+	4	1071	c.967delA	c.(967-969)aatfs	p.N323fs	TLR3_ENST00000504367.1_Frame_Shift_Del_p.N46fs|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	323					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGGGCTTTTCAATGTGAGGTA	0.368																																						uc003iyq.3																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(967-969)aatfs		Homo sapiens toll-like receptor 3 (TLR3), mRNA.							57	58	58					4																	187003807		2203	4299	6502	SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003807delA	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.967delA	4.37:g.187003807delA	ENSP00000296795:p.Asn323fs					TLR3_uc011ckz.2_Frame_Shift_Del_p.N46fs|TLR3_uc003iyr.3_Frame_Shift_Del_p.N46fs	p.N323fs	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	3	1068	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	323					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Del	DEL	ENST00000296795.3	37	c.967delA	CCDS3846.1																																																																																				0.368	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			-	187003807	A	-	187003807	7	5	253	1	0	1	0	1	0	0	0	0	15949	130	5	0	977	0	TLR3	4	187003807	Frame_Shift_Del	DEL	A	TCGA-74-6575-01A-11D-1845-08	33122064	187003807	4150469	37	18026											
PRDM9	56979	broad.mit.edu	37	chr5	23526688	23526688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaataatggaagaagaGtccagaacaggccagaaagt	21	4	11	5	0	0	5	0	0	0	5	1	6	1	6	2	2	1	0	2	2	8	1	rs536047035		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526688G>C	ENST00000296682.3	+	11	1673	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	497					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGAAGAAGAGTCCAGAACAG	0.453										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1489-1491)gaG>gaC		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							61	60	61					5																	23526688		2009	4184	6193	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526688G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1491G>C	5.37:g.23526688G>C	ENSP00000296682:p.Glu497Asp	HNSCC(3;0.000094)					p.E497D	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1673	+			497					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1491G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	9.100	1.003856	0.19199	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09538	2.97	2.58	-0.949	0.10376	.	0.932998	0.08785	N	0.894047	T	0.08133	0.0203	L	0.53249	1.67	0.09310	N	1	P	0.48764	0.915	B	0.36922	0.236	T	0.26326	-1.0106	10	0.62326	D	0.03	-0.8271	1.1396	0.01762	0.1323:0.1883:0.2986:0.3808	.	497	Q9NQV7	PRDM9_HUMAN	D	497;291	ENSP00000296682:E497D	ENSP00000253473:E291D	E	+	3	2	PRDM9	23562445	0.002000	0.14202	0.000000	0.03702	0.077000	0.17291	1.116000	0.31221	-0.235000	0.09767	0.400000	0.26472	GAG		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		C	23526688	G	C	23526688	3	2	253	1	0	0	0	0	1	0	0	0	12463	1020	36	5	1529	5	PRDM9	5	23526688	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		23526688	157388572	38	18027											
PRDM9	56979	broad.mit.edu	37	chr5	23526750	23526750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatttgtgggggtaggaaTctcaagaattgcaaaagtca	14	12	11	4	0	2	1	2	0	1	1	3	2	2	2	0	3	1	2	0	3	7	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526750T>A	ENST00000296682.3	+	11	1735	c.1553T>A	c.(1552-1554)aTc>aAc	p.I518N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	518					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGTAGGAATCTCAAGAATT	0.433										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1552-1554)aTc>aAc		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							99	99	99					5																	23526750		2033	4206	6239	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526750T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1553T>A	5.37:g.23526750T>A	ENSP00000296682:p.Ile518Asn	HNSCC(3;0.000094)					p.I518N	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1735	+			518					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1553T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688854	0.29962	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08807	3.05	2.71	1.5	0.22942	.	1.713840	0.03770	N	0.259509	T	0.08626	0.0214	L	0.40543	1.245	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.29243	-1.0018	10	0.21014	T	0.42	-0.0399	4.5351	0.12024	0.0:0.1649:0.0:0.8351	.	518	Q9NQV7	PRDM9_HUMAN	N	518;312	ENSP00000296682:I518N	ENSP00000253473:I312N	I	+	2	0	PRDM9	23562507	0.000000	0.05858	0.001000	0.08648	0.744000	0.42396	-0.492000	0.06467	0.411000	0.25702	0.413000	0.27773	ATC		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23526750	T	A	23526750	3	1	253	1	0	0	0	0	1	0	0	0	12463	1435	50	5	1591	5	PRDM9	5	23526750	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	62	23526750	157388510	39	18028											
SPEF2	79925	broad.mit.edu	37	chr5	35740247	35740247	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaacaagtttccaggagTttctaaagcgtccggatcac	13	9	9	10	2	2	1	1	0	1	1	4	3	4	3	2	2	2	2	2	2	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35740247T>A	ENST00000356031.3	+	23	3362	c.3208T>A	c.(3208-3210)Ttt>Att	p.F1070I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.F1065I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1070					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCCAGGAGTTTCTAAAGCG	0.388																																						uc003jjo.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3208-3210)Ttt>Att		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							155	144	148					5																	35740247		1875	4123	5998	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740247T>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3208T>A	5.37:g.35740247T>A	ENSP00000348314:p.Phe1070Ile					SPEF2_uc003jjp.1_Missense_Mutation_p.F556I	p.F1070I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		22	3319	+	all_lung(31;7.56e-05)		1070					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3208T>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.390743	0.42410	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08634	3.08;3.07	5.83	4.68	0.58851	.	0.406531	0.28135	N	0.016468	T	0.17195	0.0413	M	0.80746	2.51	0.80722	D	1	P;P	0.42296	0.775;0.666	B;B	0.43916	0.436;0.252	T	0.00768	-1.1574	10	0.72032	D	0.01	.	11.6132	0.51074	0.0:0.0689:0.0:0.931	.	1065;1070	Q9C093-2;Q9C093	.;SPEF2_HUMAN	I	1070;1065	ENSP00000348314:F1070I;ENSP00000412125:F1065I	ENSP00000348314:F1070I	F	+	1	0	SPEF2	35776004	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	4.147000	0.58078	1.055000	0.40461	0.533000	0.62120	TTT		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		A	35740247	T	A	35740247	3	1	253	1	0	0	0	0	1	0	0	0	15034	1725	60	5	3319	5	SPEF2	5	35740247	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	12213497	35740247	145175013	40	18029											
UGT3A1	133688	broad.mit.edu	37	chr5	35988627	35988627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaatctgagacacccGgtccaacagtaggtaatggc	13	8	11	9	1	1	3	0	2	1	2	2	4	2	3	2	3	1	2	2	3	5	3	rs201087553		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35988627G>A	ENST00000274278.3	-	2	478	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R41W|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	41						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGACACCCGGTCCAACAGT	0.378																																						uc003jjv.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(121-123)Cgg>Tgg		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.							90	85	87					5																	35988627		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35988627G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.121C>T	5.37:g.35988627G>A	ENSP00000274278:p.Arg41Trp					UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R41W|UGT3A1_uc011cor.2_Intron|UGT3A1_uc003jjy.2_5'UTR	p.R41W	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	314	-	all_lung(31;0.000197)		41					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.121C>T	CCDS3913.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.69	1.713714	0.30413	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.62498	0.02;0.02	3.2	2.19	0.27852	.	0.504967	0.16914	U	0.194386	T	0.70996	0.3288	M	0.68593	2.085	0.26392	N	0.976562	D;D	0.76494	0.999;0.999	P;D	0.63033	0.892;0.91	T	0.59215	-0.7496	10	0.66056	D	0.02	.	8.4186	0.32687	0.0:0.4106:0.5894:0.0	.	41;41	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	W	41	ENSP00000274278:R41W;ENSP00000427079:R41W	ENSP00000274278:R41W	R	-	1	2	UGT3A1	36024384	0.000000	0.05858	0.007000	0.13788	0.333000	0.28666	0.173000	0.16724	1.707000	0.51288	0.455000	0.32223	CGG		0.378	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		A	35988627	G	A	35988627	3	1	253	1	0	0	0	0	1	0	0	0	16960	1115	39	2	1556	2	UGT3A1	5	35988627	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	248380	35988627	144926633	41	18030											
SLC1A3	6507	broad.mit.edu	37	chr5	36677194	36677194	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgtgcttcggttttgtGattggaaacatgaaggaaca	11	13	11	6	1	0	2	0	2	0	0	2	4	1	4	1	3	3	2	1	3	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:36677194G>C	ENST00000265113.4	+	6	1244	c.768G>C	c.(766-768)gtG>gtC	p.V256V	SLC1A3_ENST00000381918.3_Silent_p.V256V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	256					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGGTTTTGTGATTGGAAACA	0.473																																						uc003jkj.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(766-768)gtG>gtC		Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						152	146	148					5																	36677194		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677194G>C		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.768G>C	5.37:g.36677194G>C						SLC1A3_uc011cox.2_Silent_p.V149V|SLC1A3_uc010iuy.3_Silent_p.V256V	p.V256V	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1244	+	all_lung(31;0.000245)		256					B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.768G>C	CCDS3919.1																																																																																				0.473	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		C	36677194	G	C	36677194	2	2	253	1	0	0	0	0	0	0	0	1	14433	1277	45	5		5	SLC1A3	5	36677194	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	688567	36677194	144238066	42	18031											
PIK3R1	5295	broad.mit.edu	37	chr5	67591259	67591261	+	In_Frame_Del	DEL	AAA	AAA	-																															gtttttcaggtggttgactcAaaaaggtgttcggcaaaaga																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67591259_67591261delAAA	ENST00000521381.1	+	14	2373_2375	c.1757_1759delAAA	c.(1756-1761)caaaaa>caa	p.K587del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.K287del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K317del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K224del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K587del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K587del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K587del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	587					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGGTTGACTCAAAAAGGTGTTCG	0.355			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.M582_D605>I(8)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1756-1761)caaaaa>caa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591259_67591261delAAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1757_1759delAAA	5.37:g.67591259_67591261delAAA	ENSP00000428056:p.Lys587del	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.K287del|PIK3R1_uc003jvd.3_In_Frame_Del_p.K317del|PIK3R1_uc003jve.3_In_Frame_Del_p.K266del|PIK3R1_uc021xzn.1_In_Frame_Del_p.K224del|PIK3R1_uc011crb.2_In_Frame_Del_p.K257del	p.K587del	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2337_2339	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	587					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1757_1759delAAA	CCDS3993.1																																																																																				0.355	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67591261	AAA	-	67591259	7	5	253	1	0	1	0	1	0	0	0	0	11918	130	5	0	1937	0	PIK3R1	5	67591259	In_Frame_Del	DEL	AAA	TCGA-74-6575-01A-11D-1845-08	30914065	67591259	113324001	43	18032											
PIK3R1	5295	broad.mit.edu	37	chr5	67593227	67593245	+	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	CTCTCCTCTCTAGGGTGGA	-																															ctcaaaagacagtttttcttCtctcctctctagggtggacg																								rs143771559		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	ENST00000521381.1	+	16	2601_2607	c.1985_1991delCTCTCCTCTCTAGGGTGGA	c.(1984-1992)gctctcctc>gc	p.ALL662fs	PIK3R1_ENST00000320694.8_Splice_Site_p.ALL362fs|PIK3R1_ENST00000336483.5_Splice_Site_p.ALL392fs|PIK3R1_ENST00000523872.1_Splice_Site_p.ALL299fs|PIK3R1_ENST00000521657.1_Splice_Site_p.ALL662fs|PIK3R1_ENST00000396611.1_Splice_Site_p.ALL670fs|PIK3R1_ENST00000274335.5_Splice_Site_p.ALL662fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	662	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGTTTTTCTTCTCTCCTCTCTAGGGTGGACGGCGAAGTA	0.429			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e16-1		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1986-1CTCTCCTCTCTAGGGTGGA>-	5.37:g.67593227_67593245delCTCTCCTCTCTAGGGTGGA		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Splice_Site_p.V362_splice|PIK3R1_uc003jvd.3_Splice_Site_p.V392_splice|PIK3R1_uc003jve.3_Splice_Site_p.V341_splice|PIK3R1_uc021xzn.1_Splice_Site_p.V299_splice	p.V662_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	16	2566	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	662			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	DEL	ENST00000521381.1	37	c.1986_splice	CCDS3993.1																																																																																				0.429	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Frame_Shift_Del	-	67593245	CTCTCCTCTCTAGGGTGGA	-	67593227	8	5	253	1	0	1	0	1	0	0	1	0	11918	928	32	0		0	PIK3R1	5	67593227	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	TCGA-74-6575-01A-11D-1845-08	1968	67593227	113322033	44	18033											
MCTP1	79772	broad.mit.edu	37	chr5	94044306	94044306	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgaagcttttttgtaaattTattgatgcctgaaacaaagt	13	15	7	6	1	0	2	0	2	0	0	0	3	0	2	2	0	3	2	2	0	6	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:94044306T>A	ENST00000515393.1	-	22	2838	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	MCTP1_ENST00000429576.2_Nonsense_Mutation_p.K640*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.K726*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.K463*|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	947					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTGTAAATTTATTGATGCCT	0.353																																						uc003kkx.2																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2839-2841)Aaa>Taa		Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.							105	100	102					5																	94044306		2203	4300	6503	SO:0001587	stop_gained	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94044306T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2839A>T	5.37:g.94044306T>A	ENSP00000424126:p.Lys947*					MCTP1_uc003kkv.2_Nonsense_Mutation_p.K726*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.K640*|MCTP1_uc003kku.2_Nonsense_Mutation_p.K463*	p.K947*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	21	2839	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	947					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Nonsense_Mutation	SNP	ENST00000515393.1	37	c.2839A>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	39	7.720595	0.98453	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.285	15.1705	0.72869	0.0:0.0:0.0:1.0	.	.	.	.	X	947;640;463;726;667	.	ENSP00000308957:K726X	K	-	1	0	MCTP1	94070062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.059000	0.61396	0.533000	0.62120	AAA		0.353	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		A	94044306	T	A	94044306	4	1	253	1	0	0	0	0	0	1	0	0	9400	1763	61	5	168	5	MCTP1	5	94044306	Nonsense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	26451079	94044306	86870954	45	18034											
CHD1	1105	broad.mit.edu	37	chr5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagaacgatgatcagaatGagatctatcttttaaacttc	14	13	8	6	1	3	4	1	3	2	3	4	7	3	4	0	0	2	0	0	0	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:98192335G>A	ENST00000284049.3	-	35	5031	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1628	3 X 5 AA repeats of H-S-D-H-R.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383																																						uc003knf.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4882-4884)Cat>Tat		Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	Epirubicin(DB00445)						118	112	114					5																	98192335		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192335G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4882C>T	5.37:g.98192335G>A	ENSP00000284049:p.His1628Tyr					CHD1_uc010jbn.3_Missense_Mutation_p.H354Y	p.H1628Y	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	34	5030	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1628			3 X 5 AA repeats of H-S-D-H-R.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4882C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	7.976	0.750102	0.15778	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89617	-2.54	5.55	5.55	0.83447	.	0.000000	0.34676	U	0.003775	T	0.71676	0.3368	N	0.01874	-0.695	0.41263	D	0.986799	B	0.06786	0.001	B	0.01281	0.0	T	0.69105	-0.5233	10	0.12766	T	0.61	.	12.8009	0.57586	0.0749:0.0:0.9251:0.0	.	1628	O14646	CHD1_HUMAN	Y	218;1628	ENSP00000284049:H1628Y	ENSP00000284049:H1628Y	H	-	1	0	CHD1	98220235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.601000	0.87937	0.655000	0.94253	CAT		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		A	98192335	G	A	98192335	3	1	253	1	0	0	0	0	1	0	0	0	3323	1290	45	3	254	3	CHD1	5	98192335	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	4148029	98192335	82722925	46	18035											
PCDHA10	56139	broad.mit.edu	37	chr5	140235776	140235776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcgtgggccgcatcgCgcaggacctggggctggagc	5	6	16	14	4	0	0	0	0	0	0	2	2	0	2	3	5	1	3	3	5	0	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140235776C>T	ENST00000307360.5	+	1	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A48V|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGCATCGCGCAGGACCTG	0.652																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(142-144)gCg>gTg		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							49	56	54					5																	140235776		2196	4268	6464	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140235776C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.143C>T	5.37:g.140235776C>T	ENSP00000304234:p.Ala48Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A48V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A48V	p.A48V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	143	+			62			Cadherin 1.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.143C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642599	0.87859	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53423	0.62;0.62	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.72708	0.3494	M	0.87269	2.87	0.44409	D	0.997322	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.79108	0.819;0.992;0.989	T	0.78897	-0.2023	9	0.62326	D	0.03	.	17.329	0.87258	0.0:1.0:0.0:0.0	.	48;48;48	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	48	ENSP00000421030:A48V;ENSP00000304234:A48V	ENSP00000304234:A48V	A	+	2	0	PCDHA10	140215960	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.788000	0.62439	2.391000	0.81399	0.556000	0.70494	GCG		0.652	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140235776	C	T	140235776	3	4	253	1	0	0	0	0	1	0	0	0	11520	768	27	1	145	1	PCDHA10	5	140235776	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	42043441	140235776	40679484	47	18036											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307515	140307515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggacttcctgactctttcGaacccagtacctgaggacgc	8	10	9	14	2	1	2	0	2	1	0	3	5	2	4	3	2	2	1	3	2	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140307515G>A	ENST00000253807.2	+	1	1038	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.S346S|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	346					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S346S(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517																																						uc003lih.2																			1	Substitution - coding silent(1)	p.S346S(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1036-1038)tcG>tcA		Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.							140	131	134					5																	140307515		2203	4300	6503	SO:0001819	synonymous_variant	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140307515G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1038G>A	5.37:g.140307515G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.S346S	p.S346S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1214	+			371			Cadherin 3.		Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.1038G>A	CCDS4241.1																																																																																				0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		A	140307515	G	A	140307515	2	1	253	1	0	0	0	0	0	0	0	1	11532	1045	37	2		2	PCDHAC1	5	140307515	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	71739	140307515	40607745	48	18037											
PCDHGB5	56102	broad.mit.edu	37	chr5	140778096	140778096	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacacgccaaaattcacGcaaaattcctttgagctgca	14	8	6	13	2	1	1	1	1	0	0	2	2	2	1	3	0	2	3	3	0	4	3	rs375949491		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140778096G>A	ENST00000576222.1	+	1	2546				PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAATTCACGCAAAATTCCT	0.423																																						uc003lkf.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(400-402)acG>acA		Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.							48	47	47					5																	140778096		1857	4092	5949	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778096G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25720G>A	5.37:g.140778096G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.T134T	p.T134T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	402	+			134			Cadherin 2.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.402G>A	CCDS58980.1																																																																																				0.423	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140778096	G	A	140778096	1	1	253	0	1	0	0	0	0	0	0	0	11566	1074	38	1		1	PCDHGB5	5	140778096	Intron	SNP	G	TCGA-74-6575-01A-11D-1845-08	470581	140778096	40137164	49	18038											
GABRA6	2559	broad.mit.edu	37	chr5	161128666	161128666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttggaggcaccagtaaaAtagaccagtattctcgaatt	13	11	8	9	1	1	1	0	0	1	1	2	3	1	2	3	2	0	3	3	2	5	6	rs554830106		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:161128666A>G	ENST00000274545.5	+	9	1682	c.1249A>G	c.(1249-1251)Ata>Gta	p.I417V	GABRA6_ENST00000523217.1_Missense_Mutation_p.I407V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CACCAGTAAAATAGACCAGTA	0.468										TCGA Ovarian(5;0.080)			A|||	1	0.000199681	0	0	5008	,	,		17763	0		0	False		,,,				2504	0.001					uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1249-1251)Ata>Gta		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						125	115	118					5																	161128666		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128666A>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1249A>G	5.37:g.161128666A>G	ENSP00000274545:p.Ile417Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.I188V	p.I417V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1587	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	417					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1249A>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430357	0.83776	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85339	-1.97;-1.97	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.229772	0.50627	D	0.000108	T	0.80934	0.4719	L	0.47716	1.5	0.52501	D	0.999951	P	0.36171	0.541	B	0.33254	0.16	T	0.82086	-0.0631	10	0.52906	T	0.07	.	15.2925	0.73875	1.0:0.0:0.0:0.0	.	417	Q16445	GBRA6_HUMAN	V	417;407	ENSP00000274545:I417V;ENSP00000430527:I407V	ENSP00000274545:I417V	I	+	1	0	GABRA6	161061244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.176000	0.94839	2.079000	0.62486	0.533000	0.62120	ATA		0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			G	161128666	A	G	161128666	3	3	253	1	0	0	0	0	1	0	0	0	6165	101	4	4	1283	4	GABRA6	5	161128666	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	20350570	161128666	19786594	50	18039											
DSP	1832	broad.mit.edu	37	chr6	7584328	7584328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcatttatgaggccaTgaaaattggcttagtccgac	10	12	11	8	1	0	2	0	2	0	0	1	3	1	2	2	3	0	3	2	3	4	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr6:7584328T>C	ENST00000379802.3	+	24	7174	c.6833T>C	c.(6832-6834)aTg>aCg	p.M2278T	DSP_ENST00000418664.2_Missense_Mutation_p.M1679T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2278	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATGAGGCCATGAAAATTGGC	0.473																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6832-6834)aTg>aCg		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							125	111	116					6																	7584328		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584328T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6833T>C	6.37:g.7584328T>C	ENSP00000369129:p.Met2278Thr					DSP_uc003mxq.1_Missense_Mutation_p.M1679T|DSP_uc021yle.1_Missense_Mutation_p.M1835T	p.M2278T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	7112	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2278			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6833T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404028	0.62288	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72942	-0.7;-0.7	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.73962	2.25	0.36316	D	0.857945	D;D	0.63046	0.963;0.992	D;D	0.69654	0.925;0.965	T	0.80046	-0.1546	10	0.38643	T	0.18	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1726;2278	Q4LE79;P15924	.;DESP_HUMAN	T	2278;1679	ENSP00000369129:M2278T;ENSP00000396591:M1679T	ENSP00000369129:M2278T	M	+	2	0	DSP	7529327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	ATG		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		C	7584328	T	C	7584328	3	2	253	1	0	0	0	0	1	0	0	0	4781	1464	51	4	6927	4	DSP	6	7584328	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08		7584328	163530739	51	18040											
DNAH11	8701	broad.mit.edu	37	chr7	21609750	21609750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagaagagtcactggaaaagGtgcaggtggctgttaacatc	13	9	13	6	0	1	2	1	0	0	2	2	3	1	3	0	4	2	3	0	4	5	2	rs373862531		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:21609750G>T	ENST00000409508.3	+	7	1289	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L	DNAH11_ENST00000328843.6_Missense_Mutation_p.V420L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	420	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGGAAAAGGTGCAGGTGGC	0.383									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1258-1260)Gtg>Ttg		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							71	69	70					7																	21609750		1824	4079	5903	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21609750G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1258G>T	7.37:g.21609750G>T	ENSP00000475939:p.Val420Leu						p.V420L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			6	1289	+			420			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1258G>T		.	.	.	.	.	.	.	.	.	.	g	5.503	0.277791	0.10403	.	.	ENSG00000105877	ENST00000328843	T	0.50548	0.74	5.89	5.01	0.66863	Dynein heavy chain, domain-1 (1);	0.065308	0.64402	N	0.000013	T	0.46367	0.1389	L	0.31752	0.955	0.47245	D	0.999362	D	0.57899	0.981	P	0.56514	0.8	T	0.38265	-0.9669	10	0.02654	T	1	.	15.5757	0.76380	0.0:0.0:0.8608:0.1392	.	420	Q96DT5	DYH11_HUMAN	L	420	ENSP00000330671:V420L	ENSP00000330671:V420L	V	+	1	0	DNAH11	21576275	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	2.872000	0.48467	1.511000	0.48818	-0.224000	0.12420	GTG		0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21609750	G	T	21609750	3	4	253	1	0	0	0	0	1	0	0	0	4599	1261	44	5	1284	5	DNAH11	7	21609750	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		21609750	137528913	52	18041											
NPC1L1	29881	broad.mit.edu	37	chr7	44578753	44578753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtagctggaccggttagGagccgtcaggatcacctggt	7	9	14	11	2	2	0	2	0	0	0	2	3	2	3	4	5	2	3	4	5	2	2	rs555437256		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:44578753G>T	ENST00000289547.4	-	2	1298	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P415T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P415T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P415T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	415					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACCGGTTAGGAGCCGTCAGG	0.592																																						uc003tlb.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1243-1245)Cct>Act		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)						75	85	82					7																	44578753		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578753G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1243C>A	7.37:g.44578753G>T	ENSP00000289547:p.Pro415Thr					NPC1L1_uc011kbw.2_Missense_Mutation_p.P415T|NPC1L1_uc003tlc.3_Missense_Mutation_p.P415T|NPC1L1_uc003tld.3_Missense_Mutation_p.P415T	p.P415T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			1	1299	-			415					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1243C>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	9.856	1.194903	0.22037	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.05	1.93	0.25924	.	0.357051	0.29178	N	0.012909	D	0.84220	0.5424	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.27351	0.001;0.176;0.004;0.136	B;B;B;B	0.24541	0.002;0.054;0.005;0.031	T	0.67864	-0.5560	10	0.16420	T	0.52	-6.0997	8.1487	0.31128	0.0:0.145:0.4122:0.4428	.	415;415;415;415	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	T	415	ENSP00000289547:P415T;ENSP00000370552:P415T;ENSP00000438033:P415T;ENSP00000404670:P415T	ENSP00000289547:P415T	P	-	1	0	NPC1L1	44545278	0.601000	0.26907	0.001000	0.08648	0.963000	0.63663	1.408000	0.34668	0.450000	0.26774	0.462000	0.41574	CCT		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		T	44578753	G	T	44578753	3	4	253	1	0	0	0	0	1	0	0	0	10571	1174	41	5	2912	5	NPC1L1	7	44578753	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	22969003	44578753	114559910	53	18042											
LANCL2	55915	broad.mit.edu	37	chr7	55467774	55467774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagataggtccaggcaccGtgtgtgagtcagctattaaa	12	9	12	8	1	1	2	1	1	0	1	2	3	2	2	2	2	1	2	2	2	4	3	rs375166275		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:55467774G>A	ENST00000254770.2	+	4	1233	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	219					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.V219M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGGCACCGTGTGTGAGTC	0.458													G|||	1	0.000199681	0	0.0014	5008	,	,		15582	0		0	False		,,,				2504	0					uc003tqp.3																			1	Substitution - Missense(1)	p.V219M(2)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(655-657)Gtg>Atg		Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.		G	MET/VAL	0,4406		0,0,2203	196	176	183		655	4.6	1	7		183	1,8599	1.2+/-3.3	0,1,4299	no	missense	LANCL2	NM_018697.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	219/451	55467774	1,13005	2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55467774G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.655G>A	7.37:g.55467774G>A	ENSP00000254770:p.Val219Met						p.V219M	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		3	1233	+	Breast(14;0.0379)		219					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.655G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681011	0.88542	0.0	1.16E-4	ENSG00000132434	ENST00000254770	T	0.34072	1.38	5.48	4.6	0.57074	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.72118	2.19	0.58432	D	0.999992	D	0.76494	0.999	D	0.72625	0.978	T	0.64879	-0.6303	10	0.87932	D	0	.	15.36	0.74464	0.0:0.1404:0.8596:0.0	.	219	Q9NS86	LANC2_HUMAN	M	219	ENSP00000254770:V219M	ENSP00000254770:V219M	V	+	1	0	LANCL2	55435268	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	6.989000	0.76219	1.435000	0.47434	0.655000	0.94253	GTG		0.458	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		A	55467774	G	A	55467774	3	1	253	1	0	0	0	0	1	0	0	0	8621	1145	40	1	669	1	LANCL2	7	55467774	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	10889021	55467774	103670889	54	18043											
SEMA3C	10512	broad.mit.edu	37	chr7	80374224	80374224	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatattatgactctggcaActgattcctcctgtttctac	11	15	5	10	0	2	2	0	2	2	0	4	2	4	2	2	1	2	2	2	1	6	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:80374224A>G	ENST00000265361.3	-	18	2803	c.2242T>C	c.(2242-2244)Ttg>Ctg	p.L748L	SEMA3C_ENST00000544525.1_Silent_p.L766L|SEMA3C_ENST00000419255.2_Silent_p.L748L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	748					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACTCTGGCAACTGATTCCTC	0.393																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2296-2298)Ttg>Ctg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							127	125	126					7																	80374224		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374224A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2242T>C	7.37:g.80374224A>G						SEMA3C_uc003uhj.3_Silent_p.L748L	p.L766L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			17	2375	-			748					B4DRL8	Silent	SNP	ENST00000265361.3	37	c.2296T>C	CCDS5596.1																																																																																				0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		G	80374224	A	G	80374224	2	3	253	1	0	0	0	0	0	0	0	1	14026	40	2	4		4	SEMA3C	7	80374224	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	24906450	80374224	78764439	55	18044											
KIAA1324L	222223	broad.mit.edu	37	chr7	86521207	86521207	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatatttgtattccagtcTaaatagtgataaaataaata	18	14	6	3	0	1	1	0	1	1	0	2	2	2	2	1	1	0	1	1	1	11	9			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:86521207T>A	ENST00000450689.2	-	21	3050		c.e21-2		KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTCCAGTCTAAATAGTGAT	0.303																																						uc011kha.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.e21-1		Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.							37	34	35					7																	86521207		2200	4297	6497	SO:0001630	splice_region_variant	222223					integral to membrane		g.chr7:86521207T>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2865-2A>T	7.37:g.86521207T>A						KIAA1324L_uc003uie.3_Splice_Site_p.K788_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.K841_splice|KIAA1324L_uc003uif.2_Splice_Site_p.K707_splice	p.K955_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			21	3050	-	Esophageal squamous(14;0.0058)		955					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Splice_Site	SNP	ENST00000450689.2	37	c.2865_splice	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135597	0.77662	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314;ENST00000423294	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5592	0.76229	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1324L	86359143	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	7.651000	0.83577	2.323000	0.78572	0.528000	0.53228	.		0.303	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	Intron	A	86521207	T	A	86521207	5	1	253	1	0	0	0	0	0	0	1	0	8224	1536	53	5	234	5	KIAA1324L	7	86521207	Splice_Site	SNP	T	TCGA-74-6575-01A-11D-1845-08	6146983	86521207	72617456	56	18045											
COL1A2	1278	broad.mit.edu	37	chr7	94042435	94042435	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataaaggtcatgctggtcTtgctggtgctcgggtaggtg	6	13	16	6	1	2	1	1	1	1	0	3	1	2	1	0	5	3	4	0	5	3	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:94042435T>A	ENST00000297268.6	+	26	2015	c.1544T>A	c.(1543-1545)cTt>cAt	p.L515H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	515					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CATGCTGGTCTTGCTGGTGCT	0.368										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1543-1545)cTt>cAt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						314	280	292					7																	94042435		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94042435T>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1544T>A	7.37:g.94042435T>A	ENSP00000297268:p.Leu515His	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.L515H	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		25	2015	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		515					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1544T>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767696	0.49574	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94966	-3.57	5.7	5.7	0.88788	.	0.125580	0.56097	D	0.000032	D	0.94112	0.8112	L	0.38838	1.175	0.36631	D	0.876292	P	0.43973	0.823	P	0.56278	0.795	D	0.95100	0.8229	10	0.49607	T	0.09	.	10.6054	0.45392	0.0:0.0716:0.0:0.9284	.	515	P08123	CO1A2_HUMAN	H	515;516	ENSP00000297268:L515H	ENSP00000297268:L515H	L	+	2	0	COL1A2	93880371	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.724000	0.54962	2.308000	0.77769	0.533000	0.62120	CTT		0.368	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94042435	T	A	94042435	3	1	253	1	0	0	0	0	1	0	0	0	3678	1609	56	5	1646	5	COL1A2	7	94042435	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	7521228	94042435	65096228	57	18046											
WNT2	7472	broad.mit.edu	37	chr7	116955387	116955387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagatggcataaacaaagGcagattcccgactacctgaa	16	6	10	9	1	0	3	0	1	0	2	1	5	1	3	2	3	2	2	2	3	5	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:116955387G>T	ENST00000265441.3	-	3	625	c.326C>A	c.(325-327)gCc>gAc	p.A109D	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	109					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATAAACAAAGGCAGATTCCCG	0.403																																						uc003viz.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(325-327)gCc>gAc		Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.							63	60	61					7																	116955387		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955387G>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.326C>A	7.37:g.116955387G>T	ENSP00000265441:p.Ala109Asp					WNT2_uc003vja.3_Intron	p.A109D	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	626	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		109					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.326C>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422594	0.83559	.	.	ENSG00000105989	ENST00000265441	D	0.83075	-1.68	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96833	0.9612	10	0.87932	D	0	.	19.1345	0.93420	0.0:0.0:1.0:0.0	.	109	P09544	WNT2_HUMAN	D	109	ENSP00000265441:A109D	ENSP00000265441:A109D	A	-	2	0	WNT2	116742623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.576000	0.98192	2.838000	0.97847	0.655000	0.94253	GCC		0.403	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116955387	G	T	116955387	3	4	253	1	0	0	0	0	1	0	0	0	17383	1203	42	5	768	5	WNT2	7	116955387	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	22912952	116955387	42183276	58	18047											
HYAL4	23553	broad.mit.edu	37	chr7	123508674	123508674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggtctcccacagaacaTaagtttacaagtacatctgg	13	10	9	9	0	2	1	0	0	2	1	3	2	2	2	1	3	3	2	1	3	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:123508674T>C	ENST00000223026.4	+	3	985	c.347T>C	c.(346-348)aTa>aCa	p.I116T	HYAL4_ENST00000476325.1_Missense_Mutation_p.I116T	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	116					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCACAGAACATAAGTTTACAA	0.393																																						uc003vlc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(346-348)aTa>aCa		Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.							70	77	74					7																	123508674		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508674T>C	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.347T>C	7.37:g.123508674T>C	ENSP00000223026:p.Ile116Thr					HYAL4_uc011knz.2_Missense_Mutation_p.I116T	p.I116T	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			2	985	+			116					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.347T>C	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	T	0.898	-0.723170	0.03158	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.22134	1.97;1.97	5.57	-0.836	0.10770	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.629214	0.17201	N	0.183101	T	0.05914	0.0154	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31420	-0.9944	9	.	.	.	-2.2001	1.4876	0.02450	0.1316:0.2746:0.1364:0.4575	.	116;116	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	T	116	ENSP00000223026:I116T;ENSP00000417186:I116T	.	I	+	2	0	HYAL4	123295910	0.048000	0.20356	0.465000	0.27155	0.439000	0.31926	0.250000	0.18235	0.162000	0.19483	0.533000	0.62120	ATA		0.393	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		C	123508674	T	C	123508674	3	2	253	1	0	0	0	0	1	0	0	0	7466	1406	49	4	349	4	HYAL4	7	123508674	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	6553287	123508674	35629989	59	18048											
PLXNA4	91584	broad.mit.edu	37	chr7	131865369	131865369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttgtgcctgccgatgagGttgggggactcgcagagcag	7	9	16	9	2	0	2	0	1	0	1	1	4	0	3	2	3	3	3	2	3	0	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:131865369G>A	ENST00000359827.3	-	19	4577	c.3615C>T	c.(3613-3615)aaC>aaT	p.N1205N	PLXNA4_ENST00000321063.4_Silent_p.N1205N			Q9HCM2	PLXA4_HUMAN	plexin A4	1205	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCGATGAGGTTGGGGGACT	0.602																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3613-3615)aaC>aaT		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							58	61	60					7																	131865369		2118	4245	6363	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131865369G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3615C>T	7.37:g.131865369G>A							p.N1205N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			18	3844	-			1205			IPT/TIG 4.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3615C>T	CCDS43646.1																																																																																				0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131865369	G	A	131865369	2	1	253	1	0	0	0	0	0	0	0	1	12122	1252	44	3		3	PLXNA4	7	131865369	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	8356695	131865369	27273294	60	18049											
PLAT	5327	broad.mit.edu	37	chr8	42036566	42036566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctccttcagccgctccGaatagaaaggagacactgaa	13	6	10	12	2	1	3	1	1	0	2	3	6	3	3	4	1	2	1	4	1	4	2	rs564988743		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:42036566G>A	ENST00000220809.4	-	13	1635	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PLAT_ENST00000524009.1_Missense_Mutation_p.S371L|PLAT_ENST00000270189.6_Missense_Mutation_p.R291W|PLAT_ENST00000519510.1_Missense_Mutation_p.S397L|PLAT_ENST00000429089.2_Missense_Mutation_p.S460L|PLAT_ENST00000352041.3_Missense_Mutation_p.S414L|PLAT_ENST00000429710.2_Missense_Mutation_p.S334L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	460	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CAGCCGCTCCGAATAGAAAGG	0.423													G|||	1	0.000199681	0	0	5008	,	,		19265	0		0	False		,,,				2504	0.001					uc003xos.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1378-1380)tCg>tTg		Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						54	54	54					8																	42036566		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42036566G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1379C>T	8.37:g.42036566G>A	ENSP00000220809:p.Ser460Leu					PLAT_uc010lxf.1_Missense_Mutation_p.S377L|PLAT_uc010lxg.1_Missense_Mutation_p.S285L|PLAT_uc003xot.2_Missense_Mutation_p.S414L|PLAT_uc011lcm.1_Missense_Mutation_p.S371L|PLAT_uc011lcn.1_Missense_Mutation_p.S334L	p.S460L	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		12	1588	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	460			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1379C>T	CCDS6126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.163241|4.163241	0.78226|0.78226	.|.	.|.	ENSG00000104368|ENSG00000104368	ENST00000270189|ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T|D;D;D;D;D;D	0.74315|0.90069	-0.83|-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95376|0.95376	0.8499|0.8499	M|M	0.86343|0.86343	2.81|2.81	0.48395|0.48395	D|D	0.999641|0.999641	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.998;0.997;1.0	D|D	0.95842|0.95842	0.8867|0.8867	7|10	0.72032|0.87932	D|D	0.01|0	.|.	19.1774|19.1774	0.93607|0.93607	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|334;371;397;460;414;460	.|B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.|.;.;.;.;.;TPA_HUMAN	W|L	291|460;460;414;397;334;371	ENSP00000270189:R291W|ENSP00000392045:S460L;ENSP00000220809:S460L;ENSP00000270188:S414L;ENSP00000428886:S397L;ENSP00000407861:S334L;ENSP00000429401:S371L	ENSP00000270189:R291W|ENSP00000220809:S460L	R|S	-|-	1|2	2|0	PLAT|PLAT	42155723|42155723	1.000000|1.000000	0.71417|0.71417	0.177000|0.177000	0.23020|0.23020	0.468000|0.468000	0.32798|0.32798	9.252000|9.252000	0.95491|0.95491	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.423	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		A	42036566	G	A	42036566	3	1	253	1	0	0	0	0	1	0	0	0	12021	1059	37	2	317	2	PLAT	8	42036566	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		42036566	104327456	61	18050											
RP1	6101	broad.mit.edu	37	chr8	55533600	55533600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagttccaccccctcGccatttgagcctcactcatc	8	10	6	17	1	3	1	3	1	0	0	6	1	4	1	5	1	1	1	5	1	1	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:55533600G>A	ENST00000220676.1	+	2	222	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	25					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCACCCCCTCGCCATTTGAGC	0.517																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(73-75)cGc>cAc		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							122	117	119					8																	55533600		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533600G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.74G>A	8.37:g.55533600G>A	ENSP00000220676:p.Arg25His					RP1_uc011ldy.1_Missense_Mutation_p.R25H	p.R25H	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		1	222	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	25						Missense_Mutation	SNP	ENST00000220676.1	37	c.74G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689846	0.68271	.	.	ENSG00000104237	ENST00000220676	T	0.28666	1.6	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000015	T	0.57946	0.2088	M	0.72118	2.19	0.49915	D	0.999831	D	0.89917	1.0	D	0.87578	0.998	T	0.60850	-0.7181	10	0.87932	D	0	-7.7653	19.2628	0.93974	0.0:0.0:1.0:0.0	.	25	P56715	RP1_HUMAN	H	25	ENSP00000220676:R25H	ENSP00000220676:R25H	R	+	2	0	RP1	55696153	0.995000	0.38212	0.518000	0.27811	0.051000	0.14879	3.421000	0.52742	2.545000	0.85829	0.650000	0.86243	CGC		0.517	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55533600	G	A	55533600	3	1	253	1	0	0	0	0	1	0	0	0	13532	1087	38	1	76	1	RP1	8	55533600	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	13497034	55533600	90830422	62	18051											
NCOA2	10499	broad.mit.edu	37	chr8	71057034	71057034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgtcaagtggtaaattCtggtttggcaataacctgcc	10	13	11	7	0	2	1	1	1	1	0	2	1	2	1	2	3	2	3	2	3	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:71057034C>G	ENST00000452400.2	-	13	2836	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	885					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2653-2655)caG>caC		Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.							180	170	173					8																	71057034		1892	4108	6000	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71057034C>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2655G>C	8.37:g.71057034C>G	ENSP00000399968:p.Gln885His					NCOA2_uc011lfb.1_Intron	p.Q885H	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		12	2817	-	Breast(64;0.201)		885					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2655G>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941090	0.73557	.	.	ENSG00000140396	ENST00000452400	T	0.01599	4.74	5.9	5.9	0.94986	.	0.050400	0.85682	D	0.000000	T	0.02083	0.0065	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	P	0.45195	0.473	T	0.69098	-0.5235	10	0.56958	D	0.05	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	885	Q15596	NCOA2_HUMAN	H	885	ENSP00000399968:Q885H	ENSP00000399968:Q885H	Q	-	3	2	NCOA2	71219588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.708000	0.54845	2.802000	0.96397	0.650000	0.86243	CAG		0.423	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			G	71057034	C	G	71057034	3	3	253	1	0	0	0	0	1	0	0	0	10229	912	32	5	1783	5	NCOA2	8	71057034	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	15523434	71057034	75306988	63	18052											
TTC39B	158219	broad.mit.edu	37	chr9	15214139	15214139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagacaaagtaaattaccaGgggcgaagcaattctaaggc	17	6	11	7	1	1	1	0	0	1	1	1	3	1	1	1	3	2	2	1	3	7	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:15214139G>C	ENST00000512701.2	-	4	516	c.480C>G	c.(478-480)ccC>ccG	p.P160P	TTC39B_ENST00000541445.1_Silent_p.P94P|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000380850.4_Silent_p.P160P|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000355694.2_Silent_p.P94P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	160										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TAAATTACCAGGGGCGAAGCA	0.373																																						uc003zlr.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(478-480)ccC>ccG		Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.							78	81	80					9																	15214139		2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15214139G>C	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.480C>G	9.37:g.15214139G>C						TTC39B_uc003zlq.2_Silent_p.P63P|TTC39B_uc011lmp.2_5'UTR|TTC39B_uc010mie.2_Silent_p.P160P|TTC39B_uc011lmr.2_Intron|TTC39B_uc011lmq.2_Silent_p.P160P|TTC39B_uc010mif.2_Silent_p.P160P|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Silent_p.P63P|TTC39B_uc011lms.2_Non-coding_Transcript	p.P160P	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN			3	517	-			94					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.480C>G	CCDS6477.2																																																																																				0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		C	15214139	G	C	15214139	2	2	253	1	0	0	0	0	0	0	0	1	16705	987	35	5		5	TTC39B	9	15214139	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		15214139	125999292	64	18053											
PTPN3	5774	broad.mit.edu	37	chr9	112200417	112200417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgctcatgcagagattcGacttttgttaaaaagtcctc	10	14	8	9	1	1	1	1	0	0	1	4	3	2	1	1	0	3	4	1	0	3	4	rs148263399	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:112200417G>A	ENST00000374541.2	-	8	668	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PTPN3_ENST00000446349.1_Silent_p.V57V|PTPN3_ENST00000412145.1_Silent_p.V57V|PTPN3_ENST00000262539.3_Silent_p.V79V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	188	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGAGATTCGACTTTTGTTA	0.438																																						uc004bed.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(562-564)gtC>gtT		Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.		G	,,,	1,4405	2.1+/-5.4	0,1,2202	87	90	89		564,171,171,564	2.8	1	9	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	188/869,57/783,57/738,188/914	112200417	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112200417G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.564C>T	9.37:g.112200417G>A						PTPN3_uc004beb.2_Silent_p.V57V|PTPN3_uc004bec.2_Silent_p.V57V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.V188V|PTPN3_uc011lwh.1_Silent_p.V79V	p.V188V	NM_002829	NP_001138843	P26045	PTN3_HUMAN			7	676	-			188			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.564C>T	CCDS6776.1																																																																																				0.438	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			A	112200417	G	A	112200417	2	1	253	1	0	0	0	0	0	0	0	1	12789	1045	37	2		2	PTPN3	9	112200417	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	96986278	112200417	29013014	65	18054											
CRAT	1384	broad.mit.edu	37	chr9	131864744	131864744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaagttgctgactgTgtcctgcttggggcccggca	4	12	14	11	1	0	2	0	2	0	0	1	2	1	2	2	3	3	5	2	3	1	3	rs377397536		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:131864744T>C	ENST00000318080.2	-	5	859	c.565A>G	c.(565-567)Aca>Gca	p.T189A	RP11-247A12.1_ENST00000434250.1_RNA|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	189					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGCTGACTGTGTCCTGCTTG	0.617																																						uc004bxh.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(565-567)Aca>Gca		Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)	T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	235	213	220		565	1.4	0.4	9		220	0,8600		0,0,4300	no	missense	CRAT	NM_000755.3	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	189/627	131864744	1,13005	2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864744T>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.565A>G	9.37:g.131864744T>C	ENSP00000315013:p.Thr189Ala					CRAT_uc004bxk.4_Missense_Mutation_p.T168A	p.T189A	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	4	847	-			189					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.565A>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	T	6.316	0.426325	0.11987	2.27E-4	0.0	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.89270	-2.49	5.33	1.39	0.22231	.	0.330632	0.30686	N	0.009084	T	0.80396	0.4615	L	0.49256	1.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64736	-0.6337	10	0.07325	T	0.83	-1.473	6.4839	0.22077	0.4622:0.1314:0.0:0.4064	.	189	P43155	CACP_HUMAN	A	189	ENSP00000315013:T189A	ENSP00000315013:T189A	T	-	1	0	CRAT	130904565	1.000000	0.71417	0.416000	0.26546	0.179000	0.23085	1.817000	0.39002	0.312000	0.23038	-0.543000	0.04237	ACA		0.617	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			C	131864744	T	C	131864744	3	2	253	1	0	0	0	0	1	0	0	0	3847	1696	59	4	1355	4	CRAT	9	131864744	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	19664327	131864744	9348687	66	18055											
POMT1	10585	broad.mit.edu	37	chr9	134394274	134394274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcggcaactggagatcgtCggggagaagctgtcccgggg	8	7	17	9	4	0	2	0	0	0	2	4	4	1	2	1	6	2	2	1	6	3	1	rs139687326	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:134394274C>T	ENST00000372228.3	+	15	1661	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000354713.4_Silent_p.V442V|POMT1_ENST00000404875.2_Silent_p.V355V|POMT1_ENST00000341012.7_Silent_p.V418V|POMT1_ENST00000423007.1_Silent_p.V472V|POMT1_ENST00000402686.3_Silent_p.V472V|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000419118.2_Silent_p.V320V|POMT1_ENST00000541219.1_Silent_p.V250V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	494	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGGAGATCGTCGGGGAGAAGC	0.677													C|||	6	0.00119808	0.0045	0	5008	,	,		19128	0		0	False		,,,				2504	0					uc004cav.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(1480-1482)gtC>gtT		Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.		C	,,,,	38,4368	42.3+/-75.8	0,38,2165	51	50	50		1416,1254,1416,1065,1482	-11	0.4	9	dbSNP_134	50	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	0,38,6464	TT,TC,CC		0.0,0.8625,0.2922	,,,,	472/726,418/672,472/726,355/609,494/748	134394274	38,12966	2203	4299	6502	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134394274C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1482C>T	9.37:g.134394274C>T						POMT1_uc004cax.3_Silent_p.V472V|POMT1_uc011mcj.2_Silent_p.V250V|POMT1_uc004cau.3_Silent_p.V472V|POMT1_uc004caw.3_Silent_p.V418V|POMT1_uc011mck.2_Silent_p.V355V|POMT1_uc011mcl.2_Silent_p.V320V|POMT1_uc011mcm.2_Silent_p.V442V	p.V494V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	14	1684	+		Myeloproliferative disorder(178;0.204)	494			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1482C>T	CCDS6943.1																																																																																				0.677	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		T	134394274	C	T	134394274	2	4	253	1	0	0	0	0	0	0	0	1	12245	871	31	2		2	POMT1	9	134394274	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2529530	134394274	6819157	67	18056											
COL5A1	1289	broad.mit.edu	37	chr9	137704532	137704532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcccccaggtggaataGgaaaccctggtgcagtggga	11	6	15	9	0	0	0	0	0	0	0	1	3	1	3	3	6	2	1	3	6	4	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:137704532G>A	ENST00000371817.3	+	48	4240	c.3826G>A	c.(3826-3828)Gga>Aga	p.G1276R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1276	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGAATAGGAAACCCTGG	0.627																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3826-3828)Gga>Aga		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							27	25	26					9																	137704532		2200	4295	6495	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704532G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3826G>A	9.37:g.137704532G>A	ENSP00000360882:p.Gly1276Arg						p.G1276R	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	47	4208	+		Myeloproliferative disorder(178;0.0341)	1276			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3826G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765906	0.69878	.	.	ENSG00000130635	ENST00000371817	D	0.97209	-4.29	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	D	0.98909	0.9630	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99731	1.1012	10	0.87932	D	0	.	17.7817	0.88526	0.0:0.0:1.0:0.0	.	1276	P20908	CO5A1_HUMAN	R	1276	ENSP00000360882:G1276R	ENSP00000360882:G1276R	G	+	1	0	COL5A1	136844353	1.000000	0.71417	0.758000	0.31321	0.683000	0.39861	9.774000	0.98992	2.200000	0.70718	0.643000	0.83706	GGA		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137704532	G	A	137704532	3	1	253	1	0	0	0	0	1	0	0	0	3696	1001	35	3	4016	3	COL5A1	9	137704532	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	3310258	137704532	3508899	68	18057											
LCN6	158062	broad.mit.edu	37	chr9	139639655	139639655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgaagggctcgtcccCgaactccagctgagtgaaga	9	8	14	10	2	0	4	0	3	0	1	3	5	2	4	3	2	2	3	3	2	3	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:139639655C>T	ENST00000341206.4	-	4	423	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	LCN10_ENST00000474369.1_5'Flank|LCN10_ENST00000527229.1_5'Flank|LCN6_ENST00000435202.1_Missense_Mutation_p.G117R|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000476567.1_Missense_Mutation_p.G42R|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	127					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTCGTCCCCGAACTCCAGC	0.607																																					Melanoma(172;919 2704 37090 48131)	uc004ciy.2																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(379-381)Ggg>Agg		Homo sapiens lipocalin 6 (LCN6), mRNA.							113	106	108					9																	139639655		2203	4300	6503	SO:0001583	missense	158062				single fertilization	extracellular region	binding	g.chr9:139639655C>T	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"Lipocalins"	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.379G>A	9.37:g.139639655C>T	ENSP00000339621:p.Gly127Arg					LCN10_uc004civ.3_5'Flank|LCN10_uc010nbq.3_5'Flank|LCN10_uc011mee.2_5'Flank|LCN10_uc011mef.2_5'Flank|LCN10_uc011med.2_5'Flank|LCN10_uc004ciw.3_Non-coding_Transcript|LOC100128593_uc004ciz.1_5'Flank	p.G127R	NM_198946	NP_945184	P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	3	424	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	127					B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	c.379G>A	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.910032	0.33721	.	.	ENSG00000204003	ENST00000341206	T	0.12361	2.69	3.55	1.52	0.23074	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.200710	0.06495	N	0.735332	T	0.17023	0.0409	L	0.56769	1.78	0.09310	N	1	D	0.55385	0.971	P	0.47864	0.559	T	0.22730	-1.0208	10	0.16896	T	0.51	-14.5044	4.8809	0.13679	0.0:0.6262:0.2315:0.1422	.	127	P62502	LCN6_HUMAN	R	127	ENSP00000339621:G127R	ENSP00000339621:G127R	G	-	1	0	LCN6	138759476	0.000000	0.05858	0.004000	0.12327	0.619000	0.37552	-0.117000	0.10708	0.215000	0.20761	0.450000	0.29827	GGG		0.607	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		T	139639655	C	T	139639655	3	4	253	1	0	0	0	0	1	0	0	0	8685	652	23	2	120	2	LCN6	9	139639655	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	1935123	139639655	1573776	69	18058											
C11orf35	256329	broad.mit.edu	37	chr11	556905	556905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcggtggtcccggggCgggtgccctatcacctgcac	5	6	16	14	4	1	0	1	0	0	0	2	1	2	0	3	5	3	1	3	5	2	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:556905C>T	ENST00000329451.3	-	8	968	c.906G>A	c.(904-906)ccG>ccA	p.P302P	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		302										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCCGGGGCGGGTGCCCTA	0.697																																						uc001lpx.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(904-906)ccG>ccA		Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.							15	17	16					11																	556905		2186	4279	6465	SO:0001819	synonymous_variant	256329							g.chr11:556905C>T																												ENST00000329451.3:c.906G>A	11.37:g.556905C>T						AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	p.P302P	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	969	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	302						Silent	SNP	ENST00000329451.3	37	c.906G>A	CCDS7701.1																																																																																				0.697	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			T	556905	C	T	556905	2	4	253	1	0	0	0	0	0	0	0	1	1638	755	27	1		1	C11orf35	11	556905	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08		556905	134449611	70	18059											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctgaccctgctgaccctcCtgctgctgctgctggctggg																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						uc001nkp.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(31-33)ctgdel		Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.			,	70,4042		1,68,1987					,	0.6	1			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	p.L15del	NM_000062	NP_001027466	P05155	IC1_HUMAN			1	222_224	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.31_33delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		-	57365776	CTG	-	57365774	7	5	253	1	0	1	0	1	0	0	0	0	14116	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-74-6575-01A-11D-1845-08	56808869	57365774	77640742	71	18060											
C11orf2	738	broad.mit.edu	37	chr11	64876819	64876819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccactctatgtgccagaCggctcagagcttctgcgaca	8	9	10	14	3	3	2	1	0	2	2	4	3	4	2	2	1	3	2	2	1	1	2	rs140677028		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:64876819C>T	ENST00000279281.3	+	6	1603	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	504					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATGTGCCAGACGGCTCAGAGC	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18805	0		0	False		,,,				2504	0					uc001ocr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						c.(1510-1512)aCg>aTg		Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.		C	MET/THR	0,4402		0,0,2201	93	89	90		1511	4.6	1	11	dbSNP_134	90	3,8591	3.0+/-9.4	0,3,4294	yes	missense	C11orf2	NM_013265.2	81	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	504/783	64876819	3,12993	2201	4297	6498	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64876819C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1511C>T	11.37:g.64876819C>T	ENSP00000279281:p.Thr504Met					TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.T380M	p.T504M	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			5	1551	+			504					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1511C>T	CCDS8093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.132064|4.132064	0.77662|0.77662	0.0|0.0	3.49E-4|3.49E-4	ENSG00000149823|ENSG00000149823	ENST00000526856|ENST00000279281	.|.	.|.	.|.	5.52|5.52	4.61|4.61	0.57282|0.57282	.|.	.|0.054904	.|0.64402	.|D	.|0.000001	T|T	0.52338|0.52338	0.1728|0.1728	M|M	0.69823|0.69823	2.125|2.125	0.44927|0.44927	D|D	0.997941|0.997941	.|P	.|0.42203	.|0.773	.|B	.|0.33960	.|0.173	T|T	0.56878|0.56878	-0.7906|-0.7906	5|9	.|0.45353	.|T	.|0.12	-18.4038|-18.4038	12.1148|12.1148	0.53860|0.53860	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	.|504	.|Q9UID3	.|FFR_HUMAN	W|M	2|504	.|.	.|ENSP00000279281:T504M	R|T	+|+	1|2	2|0	C11orf2|C11orf2	64633395|64633395	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.922000|0.922000	0.55478|0.55478	4.812000|4.812000	0.62613|0.62613	1.335000|1.335000	0.45486|0.45486	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		T	64876819	C	T	64876819	3	4	253	1	0	0	0	0	1	0	0	0	1633	536	19	1	1533	1	C11orf2	11	64876819	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	7511045	64876819	70129697	72	18061											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttgacaaacttggcaaaCgccttgaagaggtatcaatt	14	10	8	9	1	1	3	1	2	0	1	1	3	1	3	1	2	2	2	1	2	5	5	rs397514637	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:102988581C>T	ENST00000375735.2	+	6	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	330	Stem. {ECO:0000250}.		R -> C (in SRTD3). {ECO:0000269|PubMed:22499340, ECO:0000269|PubMed:23456818}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333													C|||	2	0.000399361	8e-04	0	5008	,	,		17271	0.001		0	False		,,,				2504	0					uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(988-990)Cgc>Tgc		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							57	55	56					11																	102988581		1852	4103	5955	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102988581C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.988C>T	11.37:g.102988581C>T	ENSP00000364887:p.Arg330Cys					DYNC2H1_uc009yxe.1_Missense_Mutation_p.R330C|DYNC2H1_uc001pho.2_Missense_Mutation_p.R330C	p.R330C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	5	1132	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	330			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.988C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129453	0.77549	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.66099	-0.19;-0.19;-0.19	5.26	5.26	0.73747	Dynein heavy chain, domain-1 (1);	4.029100	0.02609	U	0.101944	D	0.85687	0.5754	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.993	T	0.71619	-0.4538	10	0.87932	D	0	.	18.8962	0.92424	0.0:1.0:0.0:0.0	.	330;330;330	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	C	330	ENSP00000364887:R330C;ENSP00000334021:R330C;ENSP00000381167:R330C	ENSP00000334021:R330C	R	+	1	0	DYNC2H1	102493791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.844000	0.62846	2.439000	0.82584	0.650000	0.86243	CGC		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	102988581	C	T	102988581	3	4	253	1	0	0	0	0	1	0	0	0	4846	536	19	1	1010	1	DYNC2H1	11	102988581	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	38111762	102988581	32017935	73	18062											
TECTA	7007	broad.mit.edu	37	chr11	120998519	120998519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcacaagcagctgcccCgacacatgctccgacctgac	9	6	10	16	2	0	1	0	1	0	0	1	3	1	1	4	0	5	4	4	0	1	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:120998519C>T	ENST00000392793.1	+	9	2104	c.1833C>T	c.(1831-1833)ccC>ccT	p.P611P	TECTA_ENST00000264037.2_Silent_p.P611P			O75443	TECTA_HUMAN	tectorin alpha	611	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAGCTGCCCCGACACATGCT	0.637																																						uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1831-1833)ccC>ccT		Homo sapiens tectorin alpha (TECTA), mRNA.							65	66	66					11																	120998519		2203	4298	6501	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998519C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1833C>T	11.37:g.120998519C>T							p.P611P	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1833	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	611			TIL 1.			Silent	SNP	ENST00000392793.1	37	c.1833C>T	CCDS8434.1																																																																																				0.637	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	120998519	C	T	120998519	2	4	253	1	0	0	0	0	0	0	0	1	15744	639	23	2		2	TECTA	11	120998519	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	18009938	120998519	14007997	74	18063											
TECTA	7007	broad.mit.edu	37	chr11	121031074	121031074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgcgagggaagccGgtggtaagcagcgtggtgct	7	8	18	8	3	0	1	0	1	0	0	0	3	0	2	2	4	5	3	2	4	2	2	rs560030286		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:121031074G>A	ENST00000392793.1	+	15	5191	c.4920G>A	c.(4918-4920)ccG>ccA	p.P1640P	TECTA_ENST00000264037.2_Silent_p.P1640P			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGGAAGCCGGTGGTAAGCA	0.542													G|||	1	0.000199681	0	0	5008	,	,		19443	0		0.001	False		,,,				2504	0					uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4918-4920)ccG>ccA		Homo sapiens tectorin alpha (TECTA), mRNA.							148	143	145					11																	121031074		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031074G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4920G>A	11.37:g.121031074G>A							p.P1640P	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4920	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1640			VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4920G>A	CCDS8434.1																																																																																				0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121031074	G	A	121031074	2	1	253	1	0	0	0	0	0	0	0	1	15744	1103	39	2		2	TECTA	11	121031074	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	32555	121031074	13975442	75	18064											
TAS2R10	50839	broad.mit.edu	37	chr12	10978396	10978396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagatcccagactgtgtcaTtcttcgttttataatcatta	10	17	6	8	1	3	2	2	1	1	2	5	3	4	2	1	0	0	1	1	0	3	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:10978396T>C	ENST00000240619.2	-	1	561	c.473A>G	c.(472-474)aAt>aGt	p.N158S		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	158					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GACTGTGTCATTCTTCGTTTT	0.299																																						uc001qyy.1																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(472-474)aAt>aGt		Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.							46	47	47					12																	10978396		2201	4294	6495	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978396T>C	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.473A>G	12.37:g.10978396T>C	ENSP00000240619:p.Asn158Ser						p.N158S	NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN			0	473	-			158					Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.473A>G	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	4.436	0.080644	0.08533	.	.	ENSG00000121318	ENST00000240619	T	0.39229	1.09	4.82	-0.483	0.12075	.	22.498400	0.02577	U	0.098466	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.21546	0.035	T	0.16100	-1.0414	10	0.07325	T	0.83	.	5.0051	0.14284	0.0:0.2508:0.1466:0.6026	.	158	Q9NYW0	T2R10_HUMAN	S	158	ENSP00000240619:N158S	ENSP00000240619:N158S	N	-	2	0	TAS2R10	10869663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.113000	0.10774	-0.253000	0.09514	-0.326000	0.08463	AAT		0.299	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			C	10978396	T	C	10978396	3	2	253	1	0	0	0	0	1	0	0	0	15563	1493	52	4	454	4	TAS2R10	12	10978396	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08		10978396	122873499	76	18065											
GRIN2B	2904	broad.mit.edu	37	chr12	13720091	13720091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggccgcccccaacatgtaGaagacccctgccatgttgtc	9	8	9	15	1	0	2	0	0	0	2	1	2	0	2	6	1	2	2	6	1	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:13720091G>C	ENST00000609686.1	-	12	2675	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	822					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAACATGTAGAAGACCCCTG	0.507																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2464-2466)ttC>ttG		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128	117	121					12																	13720091		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720091G>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2466C>G	12.37:g.13720091G>C	ENSP00000477455:p.Phe822Leu						p.F822L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			11	2645	-			822					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2466C>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449863	0.96205	.	.	ENSG00000150086	ENST00000279593	T	0.72167	-0.63	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89402	0.3696	10	0.87932	D	0	.	19.2468	0.93905	0.0:0.0:1.0:0.0	.	822	Q13224	NMDE2_HUMAN	L	822	ENSP00000279593:F822L	ENSP00000279593:F822L	F	-	3	2	GRIN2B	13611358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.863000	0.99569	2.554000	0.86153	0.650000	0.86243	TTC		0.507	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			C	13720091	G	C	13720091	3	2	253	1	0	0	0	0	1	0	0	0	6780	933	33	5	1996	5	GRIN2B	12	13720091	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	2741695	13720091	120131804	77	18066											
MTERFD3	80298	broad.mit.edu	37	chr12	107371558	107371559	+	Frame_Shift_Ins	INS	-	-	AT																															ctctcttatctgagctatggINSaaattccttctctcaataat																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:107371558_107371559insAT	ENST00000552029.1	-	2	3002_3003	c.934_935insAT	c.(934-936)tccfs	p.S312fs	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Frame_Shift_Ins_p.S312fs|MTERFD3_ENST00000392830.2_Frame_Shift_Ins_p.S312fs			Q49AM1	MTEF2_HUMAN		312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGAGCTATGGAAATTCCTTCT	0.371																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(934-936)tccfs		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371558_107371559insAT																												ENST00000552029.1:c.934_935insAT	12.37:g.107371558_107371559insAT	ENSP00000447651:p.Ser312fs					MTERFD3_uc001tmf.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmg.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc021rdh.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmh.1_Frame_Shift_Ins_p.S312fs	p.S312fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			1	2753_2754	-			312					Q53HM2|Q9H4L6|Q9H7Y9	Frame_Shift_Ins	INS	ENST00000552029.1	37	c.934_935insAT	CCDS9111.1																																																																																				0.371	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			AT	107371559	-	AT	107371558	7	5	253	1	0	1	1	0	0	0	0	0	9921	1174	41	0	226	0	MTERFD3	12	107371558	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08	93651467	107371558	26480337	78	18067											
PTPN11	5781	broad.mit.edu	37	chr12	112888189	112888189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actatgacctgtatggagggGagaaatttgccactttggct	10	12	12	7	0	0	2	0	1	0	1	0	4	0	3	2	4	1	2	2	4	3	4	rs397507511		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:112888189G>A	ENST00000351677.2	+	3	403	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPN11_ENST00000392597.1_Missense_Mutation_p.E69K	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		E -> K (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|E -> Q (in NS1). {ECO:0000269|PubMed:12634870}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E69K(16)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTATGGAGGGGAGAAATTTGC	0.428			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													uc001ttx.3				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		16	Substitution - Missense(16)	p.E69K(33)|p.E69V(1)|p.E69G(1)|p.E69D(1)	haematopoietic_and_lymphoid_tissue(14)|soft_tissue(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM030493	PTPN11	M		c.(205-207)Gag>Aag		Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.							151	140	143					12																	112888189		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888189G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.205G>A	12.37:g.112888189G>A	ENSP00000340944:p.Glu69Lys					PTPN11_uc001ttw.1_Missense_Mutation_p.E69K	p.E69K	NM_002834	NP_002825	Q06124	PTN11_HUMAN			2	585	+			69		E -> K (in JMML; also in myelodysplastic syndrome).|E -> Q (in NS1).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.205G>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338342	0.95783	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.88509	-2.39;-2.39	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	L	0.53617	1.68	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.60236	0.871;0.817	D	0.92568	0.6064	10	0.87932	D	0	.	14.8021	0.69924	0.0688:0.0:0.9312:0.0	.	69;69	Q06124-2;Q06124-3	.;.	K	69	ENSP00000376376:E69K;ENSP00000340944:E69K	ENSP00000340944:E69K	E	+	1	0	PTPN11	111372572	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.860000	0.99555	1.496000	0.48567	0.650000	0.86243	GAG		0.428	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			A	112888189	G	A	112888189	3	1	253	1	0	0	0	0	1	0	0	0	12780	1175	41	3	215	3	PTPN11	12	112888189	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5516631	112888189	20963706	79	18068											
KSR2	283455	broad.mit.edu	37	chr12	117993006	117993006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggttttggggagcgtctGactgatgtgcaggtctgaat	6	14	16	5	1	2	3	0	3	2	0	2	4	2	4	0	4	2	3	0	4	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:117993006G>C	ENST00000339824.5	-	9	2213	c.1486C>G	c.(1486-1488)Cag>Gag	p.Q496E	KSR2_ENST00000425217.1_Missense_Mutation_p.Q467E|KSR2_ENST00000302438.5_Missense_Mutation_p.Q193E|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	496					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCGTCTGACTGATGTGC	0.577																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1399-1401)Cag>Gag		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							147	158	154					12																	117993006		1986	4163	6149	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117993006G>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1486C>G	12.37:g.117993006G>C	ENSP00000339952:p.Gln496Glu						p.Q467E	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			8	1454	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		496					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1399C>G		.	.	.	.	.	.	.	.	.	.	G	8.767	0.924953	0.18056	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.85258	-1.12;-1.12;-1.96	5.1	5.1	0.69264	.	0.142467	0.49305	D	0.000145	T	0.73345	0.3575	N	0.22421	0.69	0.58432	D	0.999996	P	0.35844	0.524	B	0.31751	0.135	T	0.73316	-0.4021	10	0.05436	T	0.98	.	18.1304	0.89599	0.0:0.0:1.0:0.0	.	496	Q6VAB6	KSR2_HUMAN	E	467;496;193;168	ENSP00000389715:Q467E;ENSP00000339952:Q496E;ENSP00000305466:Q193E	ENSP00000305466:Q193E	Q	-	1	0	KSR2	116477389	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	9.266000	0.95659	2.359000	0.80004	0.655000	0.94253	CAG		0.577	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		C	117993006	G	C	117993006	3	2	253	1	0	0	0	0	1	0	0	0	8582	1299	45	5	1414	5	KSR2	12	117993006	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5104817	117993006	15858889	80	18069											
GOLGA3	2802	broad.mit.edu	37	chr12	133373156	133373156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctccagggatgccgccGagtccgccatcctctgcagc	5	7	12	17	3	1	0	0	0	1	0	4	2	4	1	6	1	4	3	6	1	0	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:133373156G>A	ENST00000450791.2	-	9	2252	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	GOLGA3_ENST00000456883.2_Missense_Mutation_p.S690L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S690L|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S690L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S690L			Q08378	GOGA3_HUMAN	golgin A3	690	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGATGCCGCCGAGTCCGCCAT	0.622																																						uc001ukz.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2068-2070)tCg>tTg		Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.							132	129	130					12																	133373156		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133373156G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2069C>T	12.37:g.133373156G>A	ENSP00000410378:p.Ser690Leu					GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S690L|GOLGA3_uc001ulb.3_Missense_Mutation_p.S690L	p.S690L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	9	2628	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	690			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2069C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912771	0.17907	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.33216	1.85;1.85;1.85;1.42;1.42	5.48	3.66	0.41972	.	0.411944	0.28322	N	0.015775	T	0.22975	0.0555	L	0.38531	1.155	0.33532	D	0.593815	B;B;B	0.25772	0.134;0.077;0.078	B;B;B	0.17722	0.019;0.013;0.014	T	0.20472	-1.0274	10	0.42905	T	0.14	.	10.5074	0.44842	0.1508:0.0:0.8492:0.0	.	690;690;690	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	690	ENSP00000204726:S690L;ENSP00000410378:S690L;ENSP00000409303:S690L;ENSP00000442143:S690L;ENSP00000442603:S690L	ENSP00000204726:S690L	S	-	2	0	GOLGA3	131883229	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	5.225000	0.65294	0.685000	0.31468	-0.136000	0.14681	TCG		0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133373156	G	A	133373156	3	1	253	1	0	0	0	0	1	0	0	0	6554	1059	37	2	2625	2	GOLGA3	12	133373156	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	15380150	133373156	478739	81	18070											
TUBA3C	7278	broad.mit.edu	37	chr13	19751438	19751438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgatctgcccaatcaggcGattgaggttggtgtacgtgg	8	10	14	9	3	2	1	1	1	1	0	2	3	2	1	1	4	2	2	1	4	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:19751438G>A	ENST00000400113.3	-	4	789	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	229					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAATCAGGCGATTGAGGTTG	0.547																																						uc009zzj.3																			0		p.R229>?(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(685-687)Cgc>Tgc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							194	164	174					13																	19751438		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751438G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.685C>T	13.37:g.19751438G>A	ENSP00000382982:p.Arg229Cys						p.R229C	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	790	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	229					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.685C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	5.621	0.299282	0.10622	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69306	-0.39	1.19	1.19	0.21007	.	0.000000	0.44688	U	0.000427	T	0.70456	0.3226	.	.	.	0.47698	D	0.999492	.	.	.	.	.	.	T	0.71994	-0.4424	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	C	229	ENSP00000382982:R229C	ENSP00000354037:R229C	R	-	1	0	TUBA3C	18649438	1.000000	0.71417	0.980000	0.43619	0.249000	0.25844	1.534000	0.36051	0.972000	0.38314	0.175000	0.17021	CGC		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		A	19751438	G	A	19751438	3	1	253	1	0	0	0	0	1	0	0	0	16743	1058	37	2	675	2	TUBA3C	13	19751438	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		19751438	95418440	82	18071											
PAN3	255967	broad.mit.edu	37	chr13	28794483	28794483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttctctcacccatccaTgggaagccctgctactgctg	7	12	8	14	0	2	0	1	0	1	0	4	1	3	1	3	1	4	3	3	1	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:28794483T>C	ENST00000380958.3	+	6	1120	c.968T>C	c.(967-969)aTg>aCg	p.M323T	PAN3_ENST00000399613.1_Missense_Mutation_p.M123T	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CACCCATCCATGGGAAGCCCT	0.448																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(967-969)aTg>aCg		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							190	189	189					13																	28794483		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794483T>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.968T>C	13.37:g.28794483T>C	ENSP00000370345:p.Met323Thr					PAN3_uc010tdo.1_Missense_Mutation_p.M323T|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.M123T	p.M323T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	1120	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	323			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.968T>C	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425554	0.43020	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.41400	1.0;1.03	5.6	5.6	0.85130	.	0.180459	0.64402	D	0.000018	T	0.28632	0.0709	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.04976	-1.0914	10	0.31617	T	0.26	-4.8345	15.7865	0.78306	0.0:0.0:0.0:1.0	.	323;323;269	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	T	323;123	ENSP00000370345:M323T;ENSP00000382522:M123T	ENSP00000370345:M323T	M	+	2	0	PAN3	27692483	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.797000	0.69087	2.125000	0.65367	0.454000	0.30748	ATG		0.448	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		C	28794483	T	C	28794483	3	2	253	1	0	0	0	0	1	0	0	0	11415	1464	51	4	990	4	PAN3	13	28794483	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	9043045	28794483	86375395	83	18072											
OR4M1	441670	broad.mit.edu	37	chr14	20248896	20248896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaccatcatgaatcgaCgtctctgctgtatcctggtg	8	13	9	11	2	2	1	1	1	1	0	5	2	3	1	2	1	3	3	2	1	3	2	rs148303756	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:20248896C>T	ENST00000315957.4	+	1	496	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATGAATCGACGTCTCTGCTG	0.517																																						uc010tku.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(415-417)Cgt>Tgt		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.			CYS/ARG	1,4405		0,1,2202	262	271	268		415	1.3	0.2	14	dbSNP_134	268	3,8597		0,3,4297	no	missense	OR4M1	NM_001005500.1	180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	139/314	20248896	4,13002	2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248896C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.415C>T	14.37:g.20248896C>T	ENSP00000319654:p.Arg139Cys						p.R139C	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	415	+	all_cancers(95;0.00108)		139					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.415C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	7.546	0.661598	0.14645	2.27E-4	3.49E-4	ENSG00000176299	ENST00000315957	T	0.43294	0.95	4.33	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.585977	0.15415	N	0.263523	T	0.40694	0.1127	M	0.83483	2.645	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46857	-0.9161	10	0.72032	D	0.01	1.0E-4	3.4056	0.07340	0.2918:0.4981:0.0:0.2101	.	139	Q8NGD0	OR4M1_HUMAN	C	139	ENSP00000319654:R139C	ENSP00000319654:R139C	R	+	1	0	OR4M1	19318736	0.000000	0.05858	0.250000	0.24296	0.474000	0.32979	-0.002000	0.12924	0.585000	0.29608	0.506000	0.49869	CGT		0.517	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			T	20248896	C	T	20248896	3	4	253	1	0	0	0	0	1	0	0	0	11075	536	19	1	417	1	OR4M1	14	20248896	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08		20248896	87100644	84	18073											
NRXN3	9369	broad.mit.edu	37	chr14	79432392	79432392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgggagaccatacccGtttggagttccacaacattg	11	10	11	9	1	0	1	0	0	0	1	1	3	1	2	3	3	2	2	3	3	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:79432392G>A	ENST00000554719.1	+	9	1792	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R434H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	203					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACCATACCCGTTTGGAGTTC	0.428																																						uc001xun.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1300-1302)cGt>cAt		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							96	90	92					14																	79432392		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79432392G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1301G>A	14.37:g.79432392G>A	ENSP00000451648:p.Arg434His					NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R559H	p.R434H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	8	1792	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1301G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341466	0.81911	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.77750	-1.12;-1.12	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	.	.	.	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;P	0.75020	0.985;0.818	D	0.87424	0.2384	8	.	.	.	.	19.3296	0.94280	0.0:0.0:1.0:0.0	.	807;434	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	807;796;434;434	ENSP00000451648:R434H;ENSP00000338349:R434H	.	R	+	2	0	NRXN3	78502145	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.712000	0.84684	2.873000	0.98535	0.563000	0.77884	CGT		0.428	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		A	79432392	G	A	79432392	3	1	253	1	0	0	0	0	1	0	0	0	10667	1145	40	1	1327	1	NRXN3	14	79432392	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	59183496	79432392	27917148	85	18074											
CCDC88C	440193	broad.mit.edu	37	chr14	91755541	91755541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcctgtgatctgagcGgctgagaggccgccggcgag	5	7	17	12	5	2	3	0	3	2	1	3	5	2	3	3	4	1	1	3	4	0	0	rs570846021		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:91755541G>A	ENST00000389857.6	-	25	4435	c.4349C>T	c.(4348-4350)cCg>cTg	p.P1450L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1450					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGATCTGAGCGGCTGAGAGGC	0.652													g|||	1	0.000199681	0	0.0014	5008	,	,		14282	0		0	False		,,,				2504	0					uc010aty.3																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4348-4350)cCg>cTg		Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.							77	85	83					14																	91755541		1883	4105	5988	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91755541G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4349C>T	14.37:g.91755541G>A	ENSP00000374507:p.Pro1450Leu						p.P1450L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			24	4503	-		all_cancers(154;0.0468)	1450					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.4349C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	g	8.286	0.816683	0.16607	.	.	ENSG00000015133	ENST00000389857	T	0.15603	2.41	5.37	2.28	0.28536	.	1.871890	0.03465	N	0.212819	T	0.14356	0.0347	L	0.46157	1.445	0.09310	N	1	P	0.37997	0.614	B	0.25614	0.062	T	0.29941	-0.9995	10	0.66056	D	0.02	-0.061	5.4066	0.16324	0.2445:0.0:0.5615:0.194	.	1450	Q9P219	DAPLE_HUMAN	L	1450	ENSP00000374507:P1450L	ENSP00000374507:P1450L	P	-	2	0	CCDC88C	90825294	0.002000	0.14202	0.040000	0.18447	0.058000	0.15608	0.424000	0.21330	1.272000	0.44329	-0.215000	0.12644	CCG		0.652	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		A	91755541	G	A	91755541	3	1	253	1	0	0	0	0	1	0	0	0	2865	1116	39	2	1761	2	CCDC88C	14	91755541	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	12323149	91755541	15593999	86	18075											
ADAM10	102	broad.mit.edu	37	chr15	58957380	58957380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcccccctgaggaccGtatttatggggatagtctaa	10	9	11	11	1	1	1	0	1	1	0	1	3	1	3	4	3	1	2	4	3	4	5	rs200804344		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:58957380G>A	ENST00000260408.3	-	5	944	c.501C>T	c.(499-501)taC>taT	p.Y167Y	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	167					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTGAGGACCGTATTTATGGG	0.348																																						uc002afd.1																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(499-501)taC>taT		Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.		G		0,4384		0,0,2192	120	117	118		501	-2.5	1	15		118	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	ADAM10	NM_001110.2		0,1,6483	AA,AG,GG		0.0116,0.0,0.0077		167/749	58957380	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58957380G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.501C>T	15.37:g.58957380G>A						ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	p.Y167Y	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	4	945	-			167					B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	c.501C>T	CCDS10167.1																																																																																				0.348	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		A	58957380	G	A	58957380	2	1	253	1	0	0	0	0	0	0	0	1	234	1140	40	1		1	ADAM10	15	58957380	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		58957380	43574012	87	18076											
UACA	55075	broad.mit.edu	37	chr15	70959297	70959297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccaatttttcatttaaGctagaaatctgtgtctccaa	11	16	6	8	0	3	1	1	0	2	1	4	1	3	1	2	1	1	1	2	1	5	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:70959297G>C	ENST00000322954.6	-	16	3911	c.3726C>G	c.(3724-3726)agC>agG	p.S1242R	UACA_ENST00000539319.1_Missense_Mutation_p.S1133R|UACA_ENST00000560441.1_Missense_Mutation_p.S1227R|UACA_ENST00000379983.2_Missense_Mutation_p.S1229R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1242					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCATTTAAGCTAGAAATCT	0.323																																						uc002asr.3																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3724-3726)agC>agG		Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.							116	117	117					15																	70959297		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959297G>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3726C>G	15.37:g.70959297G>C	ENSP00000314556:p.Ser1242Arg					UACA_uc010uke.2_Missense_Mutation_p.S1133R|UACA_uc002asq.3_Missense_Mutation_p.S1229R|UACA_uc010bin.1_Missense_Mutation_p.S1217R	p.S1242R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			15	3830	-			1242					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3726C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037669	0.35989	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34275	1.37;1.38;1.86	5.65	2.72	0.32119	.	0.442275	0.23367	N	0.048941	T	0.24005	0.0581	N	0.22421	0.69	0.21256	N	0.999744	B;B;B;B	0.33266	0.404;0.134;0.215;0.321	B;B;B;B	0.35607	0.206;0.101;0.051;0.156	T	0.12656	-1.0539	10	0.39692	T	0.17	-10.3337	8.7483	0.34600	0.1318:0.0:0.746:0.1222	.	1133;1242;1242;1229	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	1242;1229;1133	ENSP00000314556:S1242R;ENSP00000369319:S1229R;ENSP00000438667:S1133R	ENSP00000314556:S1242R	S	-	3	2	UACA	68746351	0.999000	0.42202	0.989000	0.46669	0.958000	0.62258	2.792000	0.47837	0.742000	0.32697	0.655000	0.94253	AGC		0.323	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70959297	G	C	70959297	3	2	253	1	0	0	0	0	1	0	0	0	16821	962	34	5	540	5	UACA	15	70959297	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	12001917	70959297	31572095	88	18077											
ALDH1A3	220	broad.mit.edu	37	chr15	101432805	101432805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctcagatactttgcaGggtgggcagacaaaatccag	13	7	11	10	0	1	2	1	0	0	2	2	3	2	2	2	2	3	2	2	2	4	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:101432805G>T	ENST00000329841.5	+	4	968	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	146					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ATACTTTGCAGGGTGGGCAGA	0.473																																						uc002bwn.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(436-438)Ggg>Tgg		Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	NADH(DB00157)|Vitamin A(DB00162)						125	126	126					15																	101432805		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101432805G>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.436G>T	15.37:g.101432805G>T	ENSP00000332256:p.Gly146Trp					ALDH1A3_uc010bpb.3_Intron	p.G146W	NM_000693	NP_000684	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		3	540	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		146					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.436G>T	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396456	0.83011	.	.	ENSG00000184254	ENST00000329841	T	0.18810	2.19	5.52	5.52	0.82312	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79376	-0.1829	10	0.87932	D	0	.	18.2215	0.89903	0.0:0.0:1.0:0.0	.	146	P47895	AL1A3_HUMAN	W	146	ENSP00000332256:G146W	ENSP00000332256:G146W	G	+	1	0	ALDH1A3	99250328	1.000000	0.71417	0.976000	0.42696	0.881000	0.50899	7.141000	0.77330	2.585000	0.87301	0.555000	0.69702	GGG		0.473	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			T	101432805	G	T	101432805	3	4	253	1	0	0	0	0	1	0	0	0	492	1000	35	5	450	5	ALDH1A3	15	101432805	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	30473508	101432805	1098587	89	18078											
BTBD12	84464	broad.mit.edu	37	chr16	3658781	3658781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgattccatgttttttcAccctttggaaaaagctagcg	9	15	7	10	1	1	1	1	1	0	0	2	2	2	2	3	1	2	2	3	1	3	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr16:3658781A>G	ENST00000294008.3	-	2	825	c.185T>C	c.(184-186)gTg>gCg	p.V62A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	62	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGTTTTTTCACCCTTTGGAA	0.438								Direct reversal of damage																														uc002cvp.2																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(184-186)gTg>gCg	Direct reversal of damage	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.							149	138	142					16																	3658781		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658781A>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.185T>C	16.37:g.3658781A>G	ENSP00000294008:p.Val62Ala					SLX4_uc002cvq.1_Missense_Mutation_p.V62A	p.V62A	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			1	812	-			62			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.185T>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198230	0.79015	.	.	ENSG00000188827	ENST00000294008	T	0.02525	4.26	5.52	5.52	0.82312	.	0.000000	0.48286	D	0.000186	T	0.07954	0.0199	L	0.36672	1.1	0.26237	N	0.978932	D	0.71674	0.998	D	0.64237	0.923	T	0.08764	-1.0706	10	0.87932	D	0	.	11.4582	0.50193	0.8497:0.1502:0.0:0.0	.	62	Q8IY92	SLX4_HUMAN	A	62	ENSP00000294008:V62A	ENSP00000294008:V62A	V	-	2	0	SLX4	3598782	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.999000	0.57031	2.225000	0.72522	0.533000	0.62120	GTG		0.438	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		G	3658781	A	G	3658781	3	3	253	1	0	0	0	0	1	0	0	0	1540	159	6	4	5375	4	BTBD12	16	3658781	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08		3658781	86695972	90	18079											
CORO7	79585	broad.mit.edu	37	chr16	4411454	4411454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccgtgtcgggcaggCggccaggcttccgtagctgt	4	8	17	12	4	0	0	0	0	0	0	2	0	1	0	3	4	2	5	3	4	1	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr16:4411454C>T	ENST00000251166.4	-	17	1740	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000539968.1_Missense_Mutation_p.R312H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R532H|CORO7_ENST00000537233.2_Missense_Mutation_p.R514H|CORO7_ENST00000574025.1_Missense_Mutation_p.R447H|CORO7-PAM16_ENST00000572274.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	532					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTCGGGCAGGCGGCCAGGCTT	0.667																																						uc002cwf.3																			0											c.(1594-1596)cGc>cAc		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							43	45	45					16																	4411454		2196	4297	6493	SO:0001583	missense	79585							g.chr16:4411454C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1595G>A	16.37:g.4411454C>T	ENSP00000251166:p.Arg532His					CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R312H|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R532H|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R514H|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R447H|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R312H|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript	p.R532H	NM_001201479	NP_001188408					16	2038	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1595G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917255	0.73098	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.69306	-0.39;-0.39	5.11	5.11	0.69529	.	0.222920	0.36555	N	0.002540	D	0.84275	0.5436	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;P;P;D;D	0.72075	0.976;0.791;0.877;0.925;0.911	D	0.87412	0.2376	10	0.87932	D	0	-16.8601	18.1341	0.89612	0.0:1.0:0.0:0.0	.	447;514;312;532;513	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	532;447;312	ENSP00000251166:R532H;ENSP00000446221:R312H	ENSP00000251166:R532H	R	-	2	0	CORO7	4351455	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	2.528000	0.45624	2.373000	0.80994	0.561000	0.74099	CGC		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4411454	C	T	4411454	3	4	253	1	0	0	0	0	1	0	0	0	3759	768	27	1	1230	1	CORO7	16	4411454	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	752673	4411454	85943299	91	18080											
NF1	4763	broad.mit.edu	37	chr17	29654677	29654678	+	Frame_Shift_Ins	INS	-	-	C																															gcaaaccagggcacgccgctINScaccttcatgcaccaggagt																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29654677_29654678insC	ENST00000358273.4	+	38	5812_5813	c.5429_5430insC	c.(5428-5433)ctcaccfs	p.T1811fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.T1790fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1811	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCACGCCGCTCACCTTCATGC	0.48			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5428-5430)ctcfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654677_29654678insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5430dupC	17.37:g.29654678_29654678dupC	ENSP00000351015:p.Thr1811fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Ins_p.L1789fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.L822fs|NF1_uc010cso.3_5'UTR	p.L1810fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5812_5813	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1810					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.5429_5430insC	CCDS42292.1																																																																																				0.48	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29654678	-	C	29654677	7	5	253	1	0	1	1	0	0	0	0	0	10356	1551	54	0	5640	0	NF1	17	29654677	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08		29654677	51540533	92	18081											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29850999	29850999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaagcaagagaacaCacagctggtgcacaggtcaa	16	4	11	10	0	1	2	1	1	0	1	1	3	1	2	0	2	5	4	0	2	5	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29850999C>A	ENST00000325874.8	+	9	1347	c.1118C>A	c.(1117-1119)aCa>aAa	p.T373K	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.T271K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	373	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAAGAGAACACACAGCTGGTG	0.597																																						uc002hgn.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1117-1119)aCa>aAa		Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.							51	43	46					17																	29850999		2203	4299	6502	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850999C>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1118C>A	17.37:g.29850999C>A	ENSP00000312837:p.Thr373Lys					RAB11FIP4_uc002hgo.2_Missense_Mutation_p.T271K	p.T373K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			8	1347	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	373			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1118C>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047209	0.36085	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.20463	2.07	5.58	3.59	0.41128	.	0.152967	0.64402	D	0.000017	T	0.19208	0.0461	L	0.38531	1.155	0.45025	D	0.998041	B;B	0.28512	0.214;0.047	B;B	0.40329	0.326;0.013	T	0.07927	-1.0747	9	.	.	.	-9.964	6.233	0.20747	0.0:0.7119:0.0:0.2881	.	271;373	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	K	373	ENSP00000312837:T373K	.	T	+	2	0	RAB11FIP4	26875119	0.980000	0.34600	0.848000	0.33437	0.833000	0.47200	2.519000	0.45546	1.343000	0.45638	0.491000	0.48974	ACA		0.597	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		A	29850999	C	A	29850999	3	1	253	1	0	0	0	0	1	0	0	0	12896	478	17	5	1152	5	RAB11FIP4	17	29850999	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	196322	29850999	51344211	93	18082											
ABCA10	10349	broad.mit.edu	37	chr17	67211983	67211983	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccagcagtgaaggcaaaAgggctaagaagacttaatac	17	7	10	7	0	0	3	0	1	0	2	1	3	1	3	1	2	2	3	1	2	7	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:67211983A>G	ENST00000269081.4	-	9	1740	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_ENST00000432313.2_Silent_p.P277P|ABCA10_ENST00000416101.2_Silent_p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	277					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(829-831)ccT>ccC		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.							53	54	54					17																	67211983		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67211983A>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.831T>C	17.37:g.67211983A>G						ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Silent_p.P169P	p.P277P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			8	1710	-	Breast(10;6.95e-12)		277					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.831T>C	CCDS11684.1																																																																																				0.353	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		G	67211983	A	G	67211983	2	3	253	1	0	0	0	0	0	0	0	1	29	59	3	4		4	ABCA10	17	67211983	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	37360984	67211983	13983227	94	18083											
CTAGE1	64693	broad.mit.edu	37	chr18	19996611	19996611	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatggctgatcatttcGtctactttagaaagtttctc	8	16	9	8	1	3	2	1	1	2	1	5	2	3	2	0	2	1	3	0	2	3	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:19996611G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.D388D			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATCATTTCGTCTACTTTAG	0.343																																						uc002ktv.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1162-1164)gaC>gaT		Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							70	81	77					18																	19996611		2180	4291	6471	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996611G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996611G>A	Exception_encountered						p.D388D	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			0	1268	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		388					B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.1164C>T																																																																																					0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19996611	G	A	19996611	1	1	253	0	1	0	0	0	0	0	0	0	3992	1136	40	1		1	CTAGE1	18	19996611	5'Flank	SNP	G	TCGA-74-6575-01A-11D-1845-08		19996611	58080637	95	18084											
DSC2	1824	broad.mit.edu	37	chr18	28662997	28662997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccatccatgtcttgtacTtttattttcaactggtactt	8	19	5	9	0	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	4	8			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:28662997T>A	ENST00000280904.6	-	8	1415	c.972A>T	c.(970-972)aaA>aaT	p.K324N	DSC2_ENST00000251081.6_Missense_Mutation_p.K324N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	324	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTCTTGTACTTTTATTTTCA	0.308																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(970-972)aaA>aaT		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							93	89	90					18																	28662997		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662997T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.972A>T	18.37:g.28662997T>A	ENSP00000280904:p.Lys324Asn					DSC2_uc002kwk.4_Missense_Mutation_p.K324N	p.K324N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		7	1426	-			324			Cadherin 2.			Missense_Mutation	SNP	ENST00000280904.6	37	c.972A>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068897	0.76301	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.61392	0.11;0.11	5.3	4.13	0.48395	Cadherin (5);Cadherin-like (1);	0.000000	0.34268	N	0.004108	T	0.70587	0.3241	M	0.72353	2.195	0.42692	D	0.99358	D;D	0.63046	0.992;0.991	D;P	0.64410	0.925;0.876	T	0.72414	-0.4301	10	0.72032	D	0.01	.	10.0688	0.42319	0.0:0.0809:0.0:0.9191	.	324;324	Q02487;Q02487-2	DSC2_HUMAN;.	N	324;324;90;337	ENSP00000251081:K324N;ENSP00000280904:K324N	ENSP00000251081:K324N	K	-	3	2	DSC2	26916995	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.179000	0.31993	0.856000	0.35383	0.533000	0.62120	AAA		0.308	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		A	28662997	T	A	28662997	3	1	253	1	0	0	0	0	1	0	0	0	4766	1606	56	5	1809	5	DSC2	18	28662997	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	8666386	28662997	49414251	96	18085											
CELF4	56853	broad.mit.edu	37	chr18	34854357	34854357	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccatctgctgcattcGccgcatcgtgcgctccttgt	4	11	10	16	4	1	0	0	0	1	0	4	0	2	0	4	0	4	4	4	0	0	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:34854357G>A	ENST00000591282.1	-	6	717	c.718C>T	c.(718-720)Cga>Tga	p.R240*	CELF4_ENST00000361795.5_Nonsense_Mutation_p.R239*|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R230*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R240*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.R239*|CELF4_ENST00000420428.2_Nonsense_Mutation_p.R240*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.R229*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.R239*|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R240*			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	240	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCTGCATTCGCCGCATCGTG	0.667																																						uc002lae.2																			0		p.R239L(1)|p.R239W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(718-720)Cga>Tga		Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.							103	85	91					18																	34854357		2203	4300	6503	SO:0001587	stop_gained	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34854357G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.718C>T	18.37:g.34854357G>A	ENSP00000464794:p.Arg240*					CELF4_uc021uix.1_Nonsense_Mutation_p.R239*|CELF4_uc021uiy.1_Nonsense_Mutation_p.R240*|CELF4_uc002lag.2_Nonsense_Mutation_p.R230*|CELF4_uc002laf.2_Nonsense_Mutation_p.R235*|CELF4_uc002lai.2_Nonsense_Mutation_p.R225*|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75V	p.R240*	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			5	1114	-			240			Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Nonsense_Mutation	SNP	ENST00000591282.1	37	c.718C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	41	8.796928	0.98958	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	.	.	.	4.55	4.55	0.56014	.	0.059800	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5582	17.4927	0.87709	0.0:0.0:1.0:0.0	.	.	.	.	X	240;240;239;230;123	.	ENSP00000335631:R230X	R	-	1	2	CELF4	33108355	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.454000	0.80714	2.373000	0.80994	0.561000	0.74099	CGA		0.667	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		A	34854357	G	A	34854357	4	1	253	1	0	0	0	0	0	1	0	0	3218	1095	38	1	770	1	CELF4	18	34854357	Nonsense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	6191360	34854357	43222891	97	18086											
PPAP2C	8612	broad.mit.edu	37	chr19	288137	288137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcctcgcttgtacggggcGttcaccagcgtcaggatagc	8	9	12	12	4	2	0	2	0	0	0	4	1	3	1	2	3	3	3	2	3	3	4	rs555471469	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:288137G>A	ENST00000269812.3	-	2	136	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PPAP2C_ENST00000327790.3_Silent_p.N50N|PPAP2C_ENST00000434325.2_De_novo_Start_OutOfFrame	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	29					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACGGGGCGTTCACCAGCG	0.617													g|||	5	0.000998403	0	0	5008	,	,		13860	0		0	False		,,,				2504	0.0051					uc002loh.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5						c.(148-150)aaC>aaT		Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.							127	100	110					19																	288137		2203	4300	6503	SO:0001819	synonymous_variant	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:288137G>A	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.87C>T	19.37:g.288137G>A						PPAP2C_uc002loi.3_Silent_p.N29N|PPAP2C_uc002loj.3_5'UTR	p.N50N	NM_177543	NP_803545	O43688	LPP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	253	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	29					A6NLV0|E9PAY8	Silent	SNP	ENST00000269812.3	37	c.150C>T	CCDS12023.1																																																																																				0.617	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			A	288137	G	A	288137	2	1	253	1	0	0	0	0	0	0	0	1	12292	1136	40	1		1	PPAP2C	19	288137	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		288137	58840846	98	18087											
SLC39A3	29985	broad.mit.edu	37	chr19	2733313	2733313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccgagtcgctgccCacgtccgatccggcgttgaa	7	9	10	15	6	1	1	1	1	0	0	5	3	4	1	4	1	2	2	4	1	2	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:2733313C>T	ENST00000269740.4	-	3	710	c.381G>A	c.(379-381)gtG>gtA	p.V127V	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Silent_p.V127V	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	127					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCGCTGCCCACGTCCGATC	0.662																																						uc010xgy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(379-381)gtG>gtA		Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.							49	49	49					19																	2733313		2203	4300	6503	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733313C>T	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.381G>A	19.37:g.2733313C>T						SLC39A3_uc002lwg.3_Silent_p.V127V	p.V127V	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	635	-		Hepatocellular(1079;0.137)	127					B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.381G>A	CCDS12093.1																																																																																				0.662	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			T	2733313	C	T	2733313	2	4	253	1	0	0	0	0	0	0	0	1	14619	581	21	3		3	SLC39A3	19	2733313	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2445176	2733313	56395670	99	18088											
VAV1	7409	broad.mit.edu	37	chr19	6854017	6854017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttctgcgcccgagacCgatcagagctgtcgctcaag	9	8	11	13	4	3	3	2	1	1	2	4	5	3	3	2	0	2	2	2	0	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:6854017C>T	ENST00000602142.1	+	26	2474	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	VAV1_ENST00000599806.1_Nonsense_Mutation_p.R743*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.R766*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R701*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.R776*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	798	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCGAGACCGATCAGAGCT	0.552																																						uc002mfu.1																			0		p.R798Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2392-2394)Cga>Tga		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							112	101	105					19																	6854017		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854017C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2392C>T	19.37:g.6854017C>T	ENSP00000472929:p.Arg798*					VAV1_uc010xjh.1_Nonsense_Mutation_p.R766*|VAV1_uc010dva.1_Nonsense_Mutation_p.R776*|VAV1_uc002mfv.1_Nonsense_Mutation_p.R743*	p.R798*	NM_005428	NP_005419	P15498	VAV_HUMAN			25	2489	+			798			SH3 2.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.2392C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	38	6.771013	0.97825	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.35	3.29	0.37713	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	9.5902	0.39541	0.3775:0.6225:0.0:0.0	.	.	.	.	X	798;701	.	ENSP00000302269:R798X	R	+	1	2	VAV1	6805017	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.231000	0.43009	1.036000	0.39998	0.561000	0.74099	CGA		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6854017	C	T	6854017	4	4	253	1	0	0	0	0	0	1	0	0	17128	644	23	2	2494	2	VAV1	19	6854017	Nonsense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	4120704	6854017	52274966	100	18089											
AKAP8L	26993	broad.mit.edu	37	chr19	15510183	15510183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctgcctgcaacttgcGcttggtctggccattttcat	4	15	9	13	1	2	0	1	0	1	0	2	0	2	0	3	2	5	2	3	2	1	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:15510183G>A	ENST00000397410.5	-	9	1217	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R302C|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	363						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCAACTTGCGCTTGGTCTGG	0.602																																						uc002naw.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1087-1089)Cgc>Tgc		Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.							166	164	165					19																	15510183		2105	4225	6330	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15510183G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1087C>T	19.37:g.15510183G>A	ENSP00000380557:p.Arg363Cys					AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.R302C	p.R363C	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			8	1186	-			363					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1087C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909315	0.52439	.	.	ENSG00000011243	ENST00000397410	T	0.52754	0.65	5.43	5.43	0.79202	.	0.436418	0.23750	N	0.044926	T	0.43964	0.1271	N	0.22421	0.69	0.34313	D	0.685646	D;D	0.69078	0.997;0.997	P;P	0.50754	0.649;0.556	T	0.59134	-0.7511	10	0.66056	D	0.02	-9.587	13.0419	0.58904	0.0:0.0:0.8388:0.1612	.	302;363	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	C	363	ENSP00000380557:R363C	ENSP00000380557:R363C	R	-	1	0	AKAP8L	15371183	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.551000	0.53698	2.560000	0.86352	0.561000	0.74099	CGC		0.602	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		A	15510183	G	A	15510183	3	1	253	1	0	0	0	0	1	0	0	0	458	1087	38	1	877	1	AKAP8L	19	15510183	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	8656166	15510183	43618800	101	18090											
CPAMD8	27151	broad.mit.edu	37	chr19	17014389	17014389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatcaggcagcagccGtcccccttggcactcacaaa	10	6	8	17	1	2	0	2	0	0	0	3	0	3	0	4	2	3	4	4	2	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:17014389G>A	ENST00000443236.1	-	34	4624	c.4593C>T	c.(4591-4593)gaC>gaT	p.D1531D		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1484						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCAGCAGCCGTCCCCCTTGG	0.617																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4591-4593)gaC>gaT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							84	102	96					19																	17014389		2045	4184	6229	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17014389G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4593C>T	19.37:g.17014389G>A						CPAMD8_uc002nfd.1_5'UTR	p.D1531D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			33	4625	-			1484					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4593C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647361	0.14516	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.32	-0.26	0.12967	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	.	2.2288	0.03991	0.1367:0.0974:0.1898:0.5761	.	.	.	.	M	1542	.	.	T	-	2	0	CPAMD8	16875389	1.000000	0.71417	0.906000	0.35671	0.984000	0.73092	1.366000	0.34193	-0.417000	0.07461	-0.464000	0.05259	ACG		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17014389	G	A	17014389	2	1	253	1	0	0	0	0	0	0	0	1	3795	1136	40	1		1	CPAMD8	19	17014389	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	1504206	17014389	42114594	102	18091											
SLC25A42	284439	broad.mit.edu	37	chr19	19206999	19206999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggctgtcctgtcctcGtccgtctcatcaaaggcaag	7	10	11	13	2	2	1	2	1	1	0	7	1	5	1	3	2	0	3	3	2	2	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:19206999G>T	ENST00000318596.7	+	2	217	c.66G>T	c.(64-66)tcG>tcT	p.S22S		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	22					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCTGTCCTCGTCCGTCTCAT	0.647																																						uc002nlf.2																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(64-66)tcG>tcT		Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.							191	152	165					19																	19206999		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19206999G>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.66G>T	19.37:g.19206999G>T						SLC25A42_uc010xqn.1_Silent_p.S74S	p.S22S	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		1	222	+			22					D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.66G>T	CCDS32966.1																																																																																				0.647	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		T	19206999	G	T	19206999	2	4	253	1	0	0	0	0	0	0	0	1	14507	1132	40	5		5	SLC25A42	19	19206999	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	2192610	19206999	39921984	103	18092											
MEGF8	1954	broad.mit.edu	37	chr19	42841352	42841352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttgccccgccaggaaccCctgagggtgagtggtccctg	6	7	14	14	1	0	2	0	2	0	0	1	3	1	3	6	3	3	1	6	3	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:42841352C>T	ENST00000251268.6	+	8	1507	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P503S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	503					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGGAACCCCTGAGGGTGA	0.572																																						uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1507-1509)Cct>Tct		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							69	67	67					19																	42841352		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42841352C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1507C>T	19.37:g.42841352C>T	ENSP00000251268:p.Pro503Ser					MEGF8_uc002otm.4_Missense_Mutation_p.P44S	p.P503S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			7	2142	+		Prostate(69;0.00682)	503					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1507C>T		.	.	.	.	.	.	.	.	.	.	C	3.591	-0.083585	0.07141	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21031	2.03;2.03	4.42	4.42	0.53409	.	0.424789	0.20260	N	0.095897	T	0.14874	0.0359	N	0.00483	-1.445	0.80722	D	1	P;D	0.61697	0.915;0.99	B;D	0.70016	0.3;0.967	T	0.51980	-0.8636	10	0.36615	T	0.2	-3.0638	12.4601	0.55727	0.0:1.0:0.0:0.0	.	503;503	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	503	ENSP00000334219:P503S;ENSP00000251268:P503S	ENSP00000251268:P503S	P	+	1	0	MEGF8	47533192	0.462000	0.25791	0.994000	0.49952	0.141000	0.21300	2.270000	0.43355	2.317000	0.78254	0.505000	0.49811	CCT		0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		T	42841352	C	T	42841352	3	4	253	1	0	0	0	0	1	0	0	0	9463	623	22	3	1537	3	MEGF8	19	42841352	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	23634353	42841352	16287631	104	18093											
ETHE1	23474	broad.mit.edu	37	chr19	44015698	44015698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcctggggtgtggccaggGctggccctggtctccaacgc	4	7	16	14	1	1	0	0	0	1	0	2	0	1	0	4	6	2	1	4	6	1	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:44015698G>A	ENST00000292147.2	-	4	462	c.396C>T	c.(394-396)agC>agT	p.S132S	ETHE1_ENST00000600651.1_Silent_p.S132S	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	132					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGTGGCCAGGGCTGGCCCTGG	0.602																																						uc010eiu.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(394-396)agC>agT		Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.							60	51	54					19																	44015698		2203	4300	6503	SO:0001819	synonymous_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44015698G>A		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.396C>T	19.37:g.44015698G>A						ETHE1_uc002owp.3_Silent_p.S132S	p.S132S	NM_014297	NP_055112	O95571	ETHE1_HUMAN			3	463	-		Prostate(69;0.0153)	132					Q96HR0|Q9H001	Silent	SNP	ENST00000292147.2	37	c.396C>T	CCDS12622.1																																																																																				0.602	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		A	44015698	G	A	44015698	2	1	253	1	0	0	0	0	0	0	0	1	5272	1194	42	3		3	ETHE1	19	44015698	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	1174346	44015698	15113285	105	18094											
GPR32	2854	broad.mit.edu	37	chr19	51274617	51274617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggtccatgccaaccggCccaagaggctgctgctggtg	6	7	15	13	1	0	1	0	0	0	1	1	1	1	1	4	4	4	4	4	4	2	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51274617C>T	ENST00000270590.4	+	1	897	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCCAACCGGCCCAAGAGGCT	0.612																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.2																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(760-762)Ccc>Tcc		Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.							52	57	56					19																	51274617		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274617C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.760C>T	19.37:g.51274617C>T	ENSP00000270590:p.Pro254Ser						p.P254S	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	0	760	+		all_neural(266;0.131)	254					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.760C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214753	0.39102	.	.	ENSG00000142511	ENST00000270590	T	0.35973	1.28	2.56	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50548	0.1622	L	0.60904	1.88	0.28459	N	0.915978	D	0.71674	0.998	D	0.70935	0.971	T	0.39542	-0.9609	9	0.66056	D	0.02	.	8.0486	0.30564	0.0:0.857:0.0:0.143	.	254	O75388	GPR32_HUMAN	S	254	ENSP00000270590:P254S	ENSP00000270590:P254S	P	+	1	0	GPR32	55966429	0.012000	0.17670	0.002000	0.10522	0.688000	0.40055	1.025000	0.30090	0.310000	0.22990	0.313000	0.20887	CCC		0.612	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			T	51274617	C	T	51274617	3	4	253	1	0	0	0	0	1	0	0	0	6688	739	26	3	762	3	GPR32	19	51274617	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	7258919	51274617	7854366	106	18095											
KLK8	11202	broad.mit.edu	37	chr19	51503469	51503469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatttcttgctctgggccAtctttattctgtaggctgtg	4	18	11	8	0	4	0	0	0	4	0	4	0	4	0	1	3	1	4	1	3	3	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51503469A>G	ENST00000600767.1	-	5	765	c.276T>C	c.(274-276)gaT>gaC	p.D92D	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Silent_p.D137D|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Silent_p.D92D|KLK8_ENST00000598195.1_5'Flank			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCTGGGCCATCTTTATTCT	0.537																																						uc002puq.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(409-411)gaT>gaC		Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.							223	216	218					19																	51503469		2203	4300	6503	SO:0001819	synonymous_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503469A>G	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.276T>C	19.37:g.51503469A>G						KLK8_uc002pur.1_Silent_p.D92D|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.D92D|KLK8_uc002puv.1_Intron	p.D137D	NM_144505	NP_653088	O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	3	597	-		all_neural(266;0.026)	92			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	c.411T>C	CCDS12813.1																																																																																				0.537	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		G	51503469	A	G	51503469	2	3	253	1	0	0	0	0	0	0	0	1	8410	214	8	4		4	KLK8	19	51503469	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	228852	51503469	7625514	107	18096											
LILRA6	79168	broad.mit.edu	37	chr19	54744862	54744862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggctgctggccagggCgctggaggaagtcacgttcc	5	7	17	12	2	1	0	1	0	0	0	2	2	2	2	3	6	1	4	3	6	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:54744862C>T	ENST00000396365.2	-	5	839	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LILRA6_ENST00000419410.2_Missense_Mutation_p.R267H|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.R267H|LILRA6_ENST00000245621.5_Missense_Mutation_p.R267H|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	267	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R267L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCCAGGGCGCTGGAGGAA	0.647																																						uc010erh.1																			1	Substitution - Missense(1)	p.R267L(1)	central_nervous_system(1)	endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							55	64	61					19																	54744862		2203	4298	6501	SO:0001583	missense	79168				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54744862C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.800G>A	19.37:g.54744862C>T	ENSP00000379651:p.Arg267His					LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.R267H|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.R267H|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.R267H|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.R267H|LILRB3_uc010yep.1_Missense_Mutation_p.R267H|LILRB3_uc010yeq.1_Missense_Mutation_p.R267H|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.R267H|LILRB3_uc002qev.1_Missense_Mutation_p.R128H		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	A	4.898	0.166835	0.09339	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.00753	5.74;5.74;5.74;5.74	2.39	-4.79	0.03200	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.113440	0.02161	N	0.058782	T	0.00637	0.0021	L	0.31420	0.93	0.09310	N	1	B;P;B;B	0.41131	0.242;0.739;0.102;0.242	B;B;B;B	0.38428	0.226;0.273;0.035;0.222	T	0.44682	-0.9312	10	0.19147	T	0.46	.	0.4234	0.00460	0.2768:0.1818:0.1381:0.4033	.	267;267;267;267	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	H	267	ENSP00000390120:R267H;ENSP00000411227:R267H;ENSP00000379651:R267H;ENSP00000245621:R267H	ENSP00000245621:R267H	R	-	2	0	LILRA6	59436674	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.811000	0.00183	-2.444000	0.00548	-1.123000	0.02005	CGC		0.647	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744862	C	T	54744862	3	4	253	1	0	0	0	0	1	0	0	0	8789	768	27	1	661	1	LILRA6	19	54744862	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	3241393	54744862	4384121	108	18097											
KIR3DL2	3812	broad.mit.edu	37	chr19	55377847	55377847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtaatggaccaagaGcctgcgggggacagaacagt	11	6	15	9	1	0	2	0	0	0	2	0	4	0	4	2	3	4	3	2	3	3	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:55377847G>A	ENST00000326321.3	+	8	1161	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	KIR3DL2_ENST00000270442.5_Silent_p.E359E|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Silent_p.E376E	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	376					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCGGGGG	0.542																																						uc002qhl.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1126-1128)gaG>gaA		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							135	137	136					19																	55377847		2203	4300	6503	SO:0001819	synonymous_variant	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55377847G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1128G>A	19.37:g.55377847G>A						KIR3DL2_uc002qho.4_Silent_p.E376E|KIR3DL2_uc010esh.3_Silent_p.E359E	p.E376E			P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1191	+			376					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1128G>A	CCDS12906.1																																																																																				0.542	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			A	55377847	G	A	55377847	2	1	253	1	0	0	0	0	0	0	0	1	8321	962	34	3		3	KIR3DL2	19	55377847	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	632985	55377847	3751136	109	18098											
NLRP11	204801	broad.mit.edu	37	chr19	56313012	56313012	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatatttagggaaatggaCgtacagttgatactcaggta	15	11	10	5	1	1	1	1	1	0	0	1	3	1	3	0	3	3	3	0	3	7	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56313012C>G	ENST00000589093.1	-	5	2190	c.2097G>C	c.(2095-2097)acG>acC	p.T699T	NLRP11_ENST00000592953.1_Silent_p.T600T|NLRP11_ENST00000589824.2_Silent_p.T645T|NLRP11_ENST00000360133.3_Silent_p.T645T|NLRP11_ENST00000443188.1_Silent_p.T699T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	699							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGGAAATGGACGTACAGTTGA	0.468																																						uc010ygf.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2095-2097)acG>acC		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.							162	140	147					19																	56313012		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56313012C>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2097G>C	19.37:g.56313012C>G						NLRP11_uc002qlz.3_Silent_p.T546T|NLRP11_uc002qmb.3_Silent_p.T600T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	p.T699T	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2808	-		Colorectal(82;0.0002)	699					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.2097G>C	CCDS12935.1																																																																																				0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		G	56313012	C	G	56313012	2	3	253	1	0	0	0	0	0	0	0	1	10473	523	19	5		5	NLRP11	19	56313012	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	935165	56313012	2815971	110	18099											
NLRP13	126204	broad.mit.edu	37	chr19	56407321	56407321	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtgaggtttacccgagtTtctgcagcctgcatgtcgac	7	12	11	11	2	2	1	1	1	1	0	3	3	2	1	2	1	4	4	2	1	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56407321T>A	ENST00000342929.3	-	11	3121	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I	NLRP13_ENST00000588751.1_Intron	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1041				KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241). {ECO:0000305}.			ATP binding (GO:0005524)	p.K1041R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTACCCGAGTTTCTGCAGCCT	0.458																																						uc010ygg.2																			1	Substitution - Missense(1)	p.K1041R(2)	central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(3121-3123)aAa>aTa		Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.							216	196	203					19																	56407321		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56407321T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.3122A>T	19.37:g.56407321T>A	ENSP00000343891:p.Lys1041Ile						p.K1041I	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	10	3147	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	1041	KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241).				Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.3122A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	5.197	0.221839	0.09863	.	.	ENSG00000173572	ENST00000342929	T	0.52754	0.65	2.85	-1.22	0.09494	.	.	.	.	.	T	0.35451	0.0932	L	0.35249	1.045	0.09310	N	1	P	0.37997	0.614	B	0.43386	0.418	T	0.25710	-1.0124	9	0.32370	T	0.25	.	4.1527	0.10245	0.203:0.0:0.4157:0.3813	.	1041	Q86W25	NAL13_HUMAN	I	1041	ENSP00000343891:K1041I	ENSP00000343891:K1041I	K	-	2	0	NLRP13	61099133	0.165000	0.22948	0.000000	0.03702	0.042000	0.13812	-0.162000	0.10012	-0.512000	0.06505	0.482000	0.46254	AAA		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56407321	T	A	56407321	3	1	253	1	0	0	0	0	1	0	0	0	10475	1841	64	5	11	5	NLRP13	19	56407321	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	94309	56407321	2721662	111	18100											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850663	58850663	+	Frame_Shift_Del	DEL	T	T	-																															gctcagccctgatggttcacTtgcggatccacatcacggtg																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:58850663delT	ENST00000329665.4	+	3	1594	c.1447delT	c.(1447-1449)ttgfs	p.L483fs		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	483					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATGGTTCACTTGCGGATCCA	0.577																																						uc002qsc.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1447-1449)ttgfs		Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.							61	53	56					19																	58850663		2203	4300	6503	SO:0001589	frameshift_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850663delT	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1447delT	19.37:g.58850663delT	ENSP00000332433:p.Leu483fs					ZSCAN22_uc010yhz.1_3'UTR	p.L483fs	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	1594	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	483					Q15922|Q7Z3L8	Frame_Shift_Del	DEL	ENST00000329665.4	37	c.1447delT	CCDS12975.1																																																																																				0.577	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		-	58850663	T	-	58850663	7	5	253	1	0	1	0	1	0	0	0	0	18231	1606	56	0	1453	0	ZSCAN22	19	58850663	Frame_Shift_Del	DEL	T	TCGA-74-6575-01A-11D-1845-08	2443342	58850663	278320	112	18101											
CSF2RA	1438	broad.mit.edu	37	chrX	1407534	1407534	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctttatccaaattcAggtaagcaagacagctcagg	15	9	8	9	0	2	1	2	0	0	1	3	1	3	1	1	2	4	4	1	2	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:1407534A>G	ENST00000381524.3	+	5	528	c.342A>G	c.(340-342)tcA>tcG	p.S114S	CSF2RA_ENST00000355805.2_Splice_Site_p.S114S|CSF2RA_ENST00000381509.3_Splice_Site_p.S114S|CSF2RA_ENST00000355432.3_Splice_Site_p.S114S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_Splice_Site_p.S114S|CSF2RA_ENST00000381500.1_Splice_Site_p.S114S|CSF2RA_ENST00000432318.2_Splice_Site_p.S114S|CSF2RA_ENST00000361536.3_Splice_Site_p.S114S|CSF2RA_ENST00000381529.3_Splice_Site_p.S114S|CSF2RA_ENST00000501036.2_5'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	114					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCCAAATTCAGGTAAGCAAG	0.443																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.e6+1		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	Sargramostim(DB00020)						265	260	262					X																	1407534		2203	4296	6499	SO:0001630	splice_region_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407534A>G	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.343+1A>G	X.37:g.1407534A>G						CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Splice_Site_p.G115_splice|CSF2RA_uc004cpq.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpn.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpo.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Splice_Site|CSF2RA_uc004cpp.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncv.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpr.2_Splice_Site_p.G115_splice	p.G115_splice	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN			6	665	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	115					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.343_splice	CCDS35191.1																																																																																				0.443	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		Silent	G	1407534	A	G	1407534	5	3	253	1	0	0	0	0	0	0	1	0	3934	202	7	4	352	4	CSF2RA	23	1407534	Splice_Site	SNP	A	TCGA-74-6575-01A-11D-1845-08		1407534	153863026	113	18102											
TLR7	51284	broad.mit.edu	37	chrX	12906437	12906437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggactggttaccagggcAgccagttctggaaaaccttt	11	9	12	9	0	1	0	0	0	1	0	1	2	1	2	3	4	3	3	3	4	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:12906437A>T	ENST00000380659.3	+	3	2949	c.2810A>T	c.(2809-2811)cAg>cTg	p.Q937L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	937	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTACCAGGGCAGCCAGTTCTG	0.443																																						uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2809-2811)cAg>cTg		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						113	117	115					X																	12906437		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906437A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2810A>T	X.37:g.12906437A>T	ENSP00000370034:p.Gln937Leu						p.Q937L	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			2	2949	+			937			TIR.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2810A>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	7.112	0.576301	0.13686	.	.	ENSG00000196664	ENST00000380659	T	0.08807	3.05	5.75	5.75	0.90469	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.570953	0.18060	N	0.152976	T	0.05090	0.0136	N	0.04260	-0.245	0.36069	D	0.842005	B	0.10296	0.003	B	0.14023	0.01	T	0.44003	-0.9356	10	0.25106	T	0.35	.	15.033	0.71723	1.0:0.0:0.0:0.0	.	937	Q9NYK1	TLR7_HUMAN	L	937	ENSP00000370034:Q937L	ENSP00000370034:Q937L	Q	+	2	0	TLR7	12816358	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.834000	0.62774	1.932000	0.55993	0.486000	0.48141	CAG		0.443	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		T	12906437	A	T	12906437	3	4	253	1	0	0	0	0	1	0	0	0	15953	188	7	5	2816	5	TLR7	23	12906437	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	11498903	12906437	142364123	114	18103											
BMX	660	broad.mit.edu	37	chrX	15526512	15526512	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctagaagaacttcttctCaaaagatcacagcaaaagaa	19	9	5	8	0	4	4	2	0	3	4	5	4	4	4	0	0	2	1	0	0	8	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:15526512C>G	ENST00000357607.2	+	2	224	c.36C>G	c.(34-36)ctC>ctG	p.L12L	BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Silent_p.L12L|BMX_ENST00000342014.6_Silent_p.L12L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	12	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACTTCTTCTCAAAAGATCAC	0.284																																						uc004cww.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(34-36)ctC>ctG		Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.							37	38	38					X																	15526512		2199	4284	6483	SO:0001819	synonymous_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15526512C>G	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.36C>G	X.37:g.15526512C>G						BMX_uc004cwx.4_Silent_p.L12L|BMX_uc004cwy.4_Silent_p.L12L	p.L12L	NM_203281	NP_975010	P51813	BMX_HUMAN			1	224	+	Hepatocellular(33;0.183)		12			PH.		A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	c.36C>G	CCDS14168.1																																																																																				0.284	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		G	15526512	C	G	15526512	2	3	253	1	0	0	0	0	0	0	0	1	1473	813	29	5		5	BMX	23	15526512	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2620075	15526512	139744048	115	18104											
CDKL5	6792	broad.mit.edu	37	chrX	18664128	18664128	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccactaactagaCggtggatgtgatggcagaag	10	10	12	9	1	1	3	0	1	1	2	2	4	1	4	2	3	1	2	2	3	3	3	rs201714912		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:18664128C>T	ENST00000379989.3	+	20	3000	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D	CDKL5_ENST00000379996.3_Splice_Site_p.D905D|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	905					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													A|||	1	0.000264901	0	0	3775	,	,		14324	0		0.001	False		,,,				2504	0					uc004cym.3																			1	Substitution - coding silent(1)	p.D905D(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.e19-1		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.		A	,,	1,3834		0,1,1631,571	140	112	122		,2715,2715	0.6	0.1	X		122	0,6728		0,0,2428,1872	no	intron,coding-synonymous-near-splice,coding-synonymous-near-splice	RS1,CDKL5	NM_000330.3,NM_001037343.1,NM_003159.2	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	,905/1031,905/1031	18664128	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18664128C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2714-1C>T	X.37:g.18664128C>T						CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	p.D905_splice	NM_003159	NP_003150	O76039	CDKL5_HUMAN			19	2967	+	Hepatocellular(33;0.183)		905					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.2714_splice	CCDS14186.1																																																																																				0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	Silent	T	18664128	C	T	18664128	5	4	253	1	0	0	0	0	0	0	1	0	3157	550	19	1	2785	1	CDKL5	23	18664128	Splice_Site	SNP	C	TCGA-74-6575-01A-11D-1845-08	3137616	18664128	136606432	116	18105											
UBQLN2	29978	broad.mit.edu	37	chrX	56590893	56590893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgttcagagcatgctttCgaatcccgatctgatgaggc	8	13	10	10	2	2	3	1	2	1	1	4	5	3	3	1	1	2	3	1	1	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:56590893C>T	ENST00000338222.5	+	1	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	196					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(586-588)tCg>tTg		Homo sapiens ubiquilin 2 (UBQLN2), mRNA.							81	77	79					X																	56590893		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590893C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.587C>T	X.37:g.56590893C>T	ENSP00000345195:p.Ser196Leu					UBQLN2_uc011moq.1_Missense_Mutation_p.S196L	p.S196L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			0	868	+			196					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.587C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580204	0.65992	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80393	-1.37	4.63	4.63	0.57726	Heat shock chaperonin-binding (1);	0.000000	0.64402	D	0.000016	D	0.91985	0.7461	H	0.95365	3.66	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	P;D	0.69307	0.778;0.963	D	0.94112	0.7372	10	0.87932	D	0	-4.4721	14.1438	0.65336	0.0:1.0:0.0:0.0	.	196;196	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	L	196	ENSP00000345195:S196L	ENSP00000345195:S196L	S	+	2	0	UBQLN2	56607618	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.879000	0.69690	2.302000	0.77476	0.600000	0.82982	TCG		0.473	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		T	56590893	C	T	56590893	3	4	253	1	0	0	0	0	1	0	0	0	16894	893	31	2	589	2	UBQLN2	23	56590893	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	37926765	56590893	98679667	117	18106											
ATRX	546	broad.mit.edu	37	chrX	76918879	76918879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacatcttaccctttcttCtgtttctgcctttgacttct	7	19	3	12	0	5	1	0	1	5	0	5	1	5	1	2	0	3	1	2	0	3	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:76918879C>G	ENST00000373344.5	-	12	4326	c.4112G>C	c.(4111-4113)aGa>aCa	p.R1371T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1333T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1371					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCCTTTCTTCTGTTTCTGCC	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4111-4113)aGa>aCa		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						180	149	160					X																	76918879		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918879C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4112G>C	X.37:g.76918879C>G	ENSP00000362441:p.Arg1371Thr					ATRX_uc004ecq.4_Missense_Mutation_p.R1333T|ATRX_uc004eco.4_Missense_Mutation_p.R1156T|ATRX_uc004ecr.2_Missense_Mutation_p.R1303T	p.R1371T	NM_000489	NP_000480	P46100	ATRX_HUMAN			11	4344	-			1371					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4112G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068745	0.36470	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93953	-3.32;-3.32	4.22	4.22	0.49857	.	0.212247	0.39083	U	0.001468	D	0.92993	0.7770	M	0.64997	1.995	0.80722	D	1	P;B;B	0.49783	0.928;0.449;0.321	P;B;B	0.46758	0.526;0.177;0.086	D	0.92538	0.6039	10	0.37606	T	0.19	-10.4307	16.2231	0.82269	0.0:1.0:0.0:0.0	.	1303;1333;1371	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	T	1371;1333;1298	ENSP00000362441:R1371T;ENSP00000378967:R1333T	ENSP00000362441:R1371T	R	-	2	0	ATRX	76805535	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.151000	0.58105	1.821000	0.53095	0.600000	0.82982	AGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		G	76918879	C	G	76918879	3	3	253	1	0	0	0	0	1	0	0	0	1208	913	32	5	3462	5	ATRX	23	76918879	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	20327986	76918879	78351681	118	18107											
POU3F4	5456	broad.mit.edu	37	chrX	82763915	82763915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgccaacctctgatgagttgGaacagttcgccaaacaattc	12	9	8	12	2	1	2	0	2	1	0	3	3	1	3	3	1	3	2	3	1	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:82763915G>C	ENST00000373200.2	+	1	647	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	195	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGATGAGTTGGAACAGTTCGC	0.582																																						uc004eeg.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(583-585)Gaa>Caa		Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.							47	41	43					X																	82763915		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763915G>C	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.583G>C	X.37:g.82763915G>C	ENSP00000362296:p.Glu195Gln						p.E195Q	NM_000307	NP_000298	P49335	PO3F4_HUMAN			0	647	+			195			POU-specific.		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.583G>C	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411845	0.83340	.	.	ENSG00000196767	ENST00000373200	T	0.72282	-0.64	5.31	5.31	0.75309	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87914	0.2699	10	0.87932	D	0	.	17.9142	0.88944	0.0:0.0:1.0:0.0	.	195	P49335	PO3F4_HUMAN	Q	195	ENSP00000362296:E195Q	ENSP00000362296:E195Q	E	+	1	0	POU3F4	82650571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.558000	0.98132	2.357000	0.79964	0.525000	0.51046	GAA		0.582	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		C	82763915	G	C	82763915	3	2	253	1	0	0	0	0	1	0	0	0	12277	1175	41	5	585	5	POU3F4	23	82763915	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5845036	82763915	72506645	119	18108											
TAF7L	54457	broad.mit.edu	37	chrX	100538449	100538449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccatacctgagaaatgtCtgctgttttataaaaggttt	12	15	8	6	0	1	1	0	1	1	1	2	2	2	1	2	1	2	3	2	1	5	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538449C>G	ENST00000372907.3	-	4	537	c.526G>C	c.(526-528)Gac>Cac	p.D176H	TAF7L_ENST00000372905.2_Missense_Mutation_p.D90H|TAF7L_ENST00000356784.1_Missense_Mutation_p.D90H|TAF7L_ENST00000324762.6_Missense_Mutation_p.D90H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	176					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGAGAAATGTCTGCTGTTTTA	0.378																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(526-528)Gac>Cac		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							145	143	144					X																	100538449		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538449C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.526G>C	X.37:g.100538449C>G	ENSP00000361998:p.Asp176His					TAF7L_uc004eha.3_Missense_Mutation_p.D90H|TAF7L_uc004ehc.2_Missense_Mutation_p.D90H	p.D176H	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			3	552	-			176					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.526G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594786	0.66219	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.64085	0.23;0.01;0.01;-0.08	5.64	4.78	0.61160	TAFII55 protein, conserved region (1);	0.000000	0.44688	D	0.000440	D	0.83617	0.5293	H	0.94658	3.565	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.87073	0.2161	10	0.87932	D	0	-19.8709	12.1452	0.54020	0.0:0.9187:0.0:0.0813	.	176;90	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	H	176;90;90;90	ENSP00000361998:D176H;ENSP00000361996:D90H;ENSP00000320283:D90H;ENSP00000349235:D90H	ENSP00000320283:D90H	D	-	1	0	TAF7L	100425105	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	4.240000	0.58701	1.153000	0.42468	-0.202000	0.12741	GAC		0.378	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			G	100538449	C	G	100538449	3	3	253	1	0	0	0	0	1	0	0	0	15530	913	32	5	902	5	TAF7L	23	100538449	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	17774534	100538449	54732111	120	18109											
TAF7L	54457	broad.mit.edu	37	chrX	100538507	100538507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttcaataacacaaggCaagtcaaccagcttagcagc	15	7	8	11	0	2	0	2	0	0	0	2	0	2	0	1	2	5	4	1	2	6	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538507C>G	ENST00000372907.3	-	4	479	c.468G>C	c.(466-468)ttG>ttC	p.L156F	TAF7L_ENST00000372905.2_Missense_Mutation_p.L70F|TAF7L_ENST00000356784.1_Missense_Mutation_p.L70F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L70F	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TAACACAAGGCAAGTCAACCA	0.403																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(466-468)ttG>ttC		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							198	195	196					X																	100538507		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538507C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.468G>C	X.37:g.100538507C>G	ENSP00000361998:p.Leu156Phe					TAF7L_uc004eha.3_Missense_Mutation_p.L70F|TAF7L_uc004ehc.2_Missense_Mutation_p.L70F	p.L156F	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			3	494	-			156					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.468G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079977	0.55753	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.70869	-0.13;-0.21;-0.21;-0.52	5.68	5.68	0.88126	TAFII55 protein, conserved region (1);	0.000000	0.35151	N	0.003406	D	0.88749	0.6521	H	0.94658	3.565	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91777	0.5432	10	0.87932	D	0	-7.5636	16.9151	0.86149	0.0:1.0:0.0:0.0	.	156;70	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	F	156;70;70;70	ENSP00000361998:L156F;ENSP00000361996:L70F;ENSP00000320283:L70F;ENSP00000349235:L70F	ENSP00000320283:L70F	L	-	3	2	TAF7L	100425163	1.000000	0.71417	0.996000	0.52242	0.295000	0.27426	1.520000	0.35899	2.372000	0.80975	0.594000	0.82650	TTG		0.403	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			G	100538507	C	G	100538507	3	3	253	1	0	0	0	0	1	0	0	0	15530	709	25	5	960	5	TAF7L	23	100538507	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	58	100538507	54732053	121	18110											
KCNE1L	23630	broad.mit.edu	37	chrX	108868079	108868079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtagagataggcgtcGtcgcccttggcgctggtcac	7	9	15	10	4	1	1	1	0	0	1	3	3	1	2	1	4	0	2	1	4	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:108868079G>A	ENST00000372101.2	-	1	314	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	57					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GATAGGCGTCGTCGCCCTTGG	0.652																																						uc004eoh.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(169-171)gaC>gaT		Homo sapiens KCNE1-like (KCNE1L), mRNA.							45	40	42					X																	108868079		2203	4300	6503	SO:0001819	synonymous_variant	23630				regulation of heart contraction	voltage-gated potassium channel complex		g.chrX:108868079G>A	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.171C>T	X.37:g.108868079G>A							p.D57D	NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN			0	315	-			57						Silent	SNP	ENST00000372101.2	37	c.171C>T	CCDS14547.1																																																																																				0.652	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		A	108868079	G	A	108868079	2	1	253	1	0	0	0	0	0	0	0	1	8022	1136	40	1		1	KCNE1L	23	108868079	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	8329572	108868079	46402481	122	18111											
XPNPEP2	7512	broad.mit.edu	37	chrX	128890500	128890500	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctgtcctcagatgagAtgtacctgctggactctggg	8	10	13	10	0	2	2	1	1	1	2	3	4	3	3	2	2	3	4	2	2	2	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:128890500A>C	ENST00000371106.3	+	14	1528	c.1336A>C	c.(1336-1338)Atg>Ctg	p.M446L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	446						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTCAGATGAGATGTACCTGCT	0.592																																						uc004eut.1																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1336-1338)Atg>Ctg		Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.							142	100	115					X																	128890500		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128890500A>C	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1336A>C	X.37:g.128890500A>C	ENSP00000360147:p.Met446Leu						p.M446L	NM_003399	NP_003390	O43895	XPP2_HUMAN			13	1580	+			446					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1336A>C	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605426	0.46423	.	.	ENSG00000122121	ENST00000371106	T	0.72835	-0.69	5.62	5.62	0.85841	Peptidase M24, structural domain (3);	0.035143	0.85682	D	0.000000	T	0.56247	0.1972	N	0.11870	0.19	0.45554	D	0.998508	B	0.27625	0.183	B	0.35727	0.209	T	0.53913	-0.8371	10	0.18710	T	0.47	-12.3024	13.6829	0.62496	1.0:0.0:0.0:0.0	.	446	O43895	XPP2_HUMAN	L	446	ENSP00000360147:M446L	ENSP00000360147:M446L	M	+	1	0	XPNPEP2	128718181	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.514000	0.60482	1.875000	0.54330	0.486000	0.48141	ATG		0.592	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		C	128890500	A	C	128890500	3	2	253	1	0	0	0	0	1	0	0	0	17440	333	12	5	1390	5	XPNPEP2	23	128890500	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	20022421	128890500	26380060	123	18112											
MAGEC1	9947	broad.mit.edu	37	chrX	140994261	140994261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtattttccagagttcTcctgagagtgctcaaagtac	10	14	9	8	0	2	3	1	2	1	2	4	4	3	3	2	0	2	4	2	0	3	6	rs58302943		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:140994261T>C	ENST00000285879.4	+	4	1357	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	357										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCTCCTGAGAGTG	0.468										HNSCC(15;0.026)																												uc004fbt.3																			0		p.S357Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1069-1071)tcT>tcC		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							106	106	106					X																	140994261		2200	4293	6493	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994261T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1071T>C	X.37:g.140994261T>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S16S	p.S357S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			3	1395	+	Acute lymphoblastic leukemia(192;6.56e-05)		357					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1071T>C	CCDS35417.1																																																																																				0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140994261	T	C	140994261	2	2	253	1	0	0	0	0	0	0	0	1	9180	1538	54	4		4	MAGEC1	23	140994261	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08	12103761	140994261	14276299	124	18113											
FLNA	2316	broad.mit.edu	37	chrX	153592699	153592699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactctgctggcttgttgacGgccacacctgtcttctccaa	7	12	8	14	1	3	1	0	1	3	0	4	1	3	1	3	2	2	3	3	2	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:153592699G>A	ENST00000369850.3	-	14	2300	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	FLNA_ENST00000360319.4_Silent_p.A688A|FLNA_ENST00000422373.1_Silent_p.A688A|FLNA_ENST00000344736.4_Silent_p.A688A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	688					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTGTTGACGGCCACACCTG	0.637																																						uc004fkk.2																			0				breast(6)	6						c.(2062-2064)gcC>gcT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							99	100	99					X																	153592699		2118	4216	6334	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592699G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2064C>T	X.37:g.153592699G>A						FLNA_uc010nuu.1_Silent_p.A688A	p.A688A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			13	2313	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		688					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.2064C>T	CCDS48194.1																																																																																				0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153592699	G	A	153592699	2	1	253	1	0	0	0	0	0	0	0	1	5933	1103	39	2		2	FLNA	23	153592699	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	12598438	153592699	1677861	125	18114											
KIAA0090	23065	broad.mit.edu	37	chr1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatgccttcctacctttCgaagccgatatccacacagc	10	9	7	15	2	0	0	0	0	0	0	3	3	2	1	5	1	4	0	5	1	3	4	rs374969388		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:19557342C>T	ENST00000477853.1	-	17	2102	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	EMC1_ENST00000375199.3_Missense_Mutation_p.R686Q|EMC1_ENST00000375208.3_Missense_Mutation_p.R665Q|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	687						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCCTACCTTTCGAAGCCGATA	0.502													C|||	1	0.000199681	0	0	5008	,	,		18265	0.001		0	False		,,,				2504	0					uc001bbo.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2059-2061)cGa>cAa		Homo sapiens KIAA0090 (KIAA0090), mRNA.		C	GLN/ARG	0,4406		0,0,2203	201	196	198		2060	4.4	1	1		198	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0090	NM_015047.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	687/994	19557342	1,13005	2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19557342C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2060G>A	1.37:g.19557342C>T	ENSP00000420608:p.Arg687Gln					KIAA0090_uc001bbp.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.3_Missense_Mutation_p.R665Q	p.R687Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	16	2103	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	687					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2060G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203216	0.58234	0.0	1.16E-4	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.21361	2.02;2.01;2.01	5.27	4.36	0.52297	.	0.131711	0.51477	D	0.000083	T	0.09862	0.0242	N	0.25426	0.745	0.80722	D	1	B;B;P;P	0.48230	0.034;0.164;0.907;0.85	B;B;B;B	0.34038	0.027;0.045;0.174;0.084	T	0.19257	-1.0311	10	0.13853	T	0.58	-3.4762	7.76	0.28946	0.0:0.7529:0.0:0.247	.	665;686;686;687	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	Q	687;686;665	ENSP00000420608:R687Q;ENSP00000364345:R686Q;ENSP00000364354:R665Q	ENSP00000364345:R686Q	R	-	2	0	KIAA0090	19429929	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	3.574000	0.53863	1.351000	0.45789	0.561000	0.74099	CGA		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		T	19557342	C	T	19557342	3	4	254	1	0	0	0	0	1	0	0	0	8153	884	31	2	949	2	KIAA0090	1	19557342	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		19557342	229693279	1	18115											
HRNR	388697	broad.mit.edu	37	chr1	152185734	152185734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggactgtcctgagcCagacccatgttggccgtagc	9	7	12	13	1	0	3	0	1	0	2	1	4	1	4	5	2	2	2	5	2	1	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:152185734C>T	ENST00000368801.2	-	3	8446	c.8371G>A	c.(8371-8373)Ggc>Agc	p.G2791S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2791					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAGCCAGACCCATGT	0.557																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(8371-8373)Ggc>Agc		Homo sapiens hornerin (HRNR), mRNA.							102	100	100					1																	152185734		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152185734C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8371G>A	1.37:g.152185734C>T	ENSP00000357791:p.Gly2791Ser						p.G2791S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8447	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2791					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.8371G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841084	0.16891	.	.	ENSG00000197915	ENST00000368801	T	0.01902	4.57	3.69	-6.18	0.02085	.	.	.	.	.	T	0.00496	0.0016	L	0.53249	1.67	0.09310	N	1	B	0.22080	0.064	B	0.15052	0.012	T	0.49835	-0.8897	9	0.12430	T	0.62	.	1.0294	0.01535	0.2443:0.2032:0.1207:0.4317	.	2791	Q86YZ3	HORN_HUMAN	S	2791	ENSP00000357791:G2791S	ENSP00000357791:G2791S	G	-	1	0	HRNR	150452358	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.129000	0.01313	-1.925000	0.01063	-0.436000	0.05848	GGC		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152185734	C	T	152185734	3	4	254	1	0	0	0	0	1	0	0	0	7359	594	21	3	185	3	HRNR	1	152185734	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	132628392	152185734	97064887	2	18116											
SOX13	9580	broad.mit.edu	37	chr1	204092264	204092265	+	Missense_Mutation	DNP	CC	CC	AA																															tcatcagcctggactcatccCcagccaaggagcggctggag																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204092264_204092265CC>AA	ENST00000367204.1	+	11	1268_1269	c.1159_1160CC>AA	c.(1159-1161)CCa>AAa	p.P387K		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	387					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACTCATCCCCAGCCAAGGAG	0.634																																						uc001ham.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(1159-1161)cca>AAa		Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.																																				SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204092264_204092265CC>AA		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	Exception_encountered	1.37:g.204092264_204092265delinsAA	ENSP00000356172:p.Pro387Lys					SOX13_uc010pqp.2_Missense_Mutation_p.P386K|SOX13_uc010pqq.2_Missense_Mutation_p.P254K	p.P387K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		10	1754_1755	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		387					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	DNP	ENST00000367204.1	37	c.1159_1160CC>AA	CCDS44299.1																																																																																				0.634	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		AA	204092265	CC	AA	204092264	3	1	254	1	0	0	0	0	1	0	0	0	14944	623	22	5	1197	5	SOX13	1	204092264	Missense_Mutation	DNP	CC	TCGA-74-6577-01A-11D-1845-08	51906530	204092264	45158357	3	18117											
REN	5972	broad.mit.edu	37	chr1	204125330	204125330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcctcttcttggctccCaaggcctccatgagcttctc	7	11	7	16	0	3	1	0	1	3	0	6	1	5	1	4	2	3	2	4	2	2	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204125330C>A	ENST00000272190.8	-	8	964	c.936G>T	c.(934-936)ttG>ttT	p.L312F	REN_ENST00000367195.2_Missense_Mutation_p.L309F	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	312					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCTTGGCTCCCAAGGCCTCCA	0.567																																						uc001haq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(934-936)ttG>ttT		Homo sapiens renin (REN), mRNA.	Aliskiren(DB01258)|Remikiren(DB00212)						206	202	203					1																	204125330		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204125330C>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.936G>T	1.37:g.204125330C>A	ENSP00000272190:p.Leu312Phe						p.L312F	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		7	980	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		312					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.936G>T	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560500	0.45590	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.58210	0.35;0.35	4.73	2.55	0.30701	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.115754	0.56097	D	0.000024	T	0.62938	0.2469	L	0.59967	1.855	0.40467	D	0.980309	D	0.76494	0.999	D	0.77004	0.989	T	0.65545	-0.6142	10	0.87932	D	0	.	7.5313	0.27685	0.3113:0.5518:0.1368:0.0	.	312	P00797	RENI_HUMAN	F	309;231;312	ENSP00000356163:L309F;ENSP00000272190:L312F	ENSP00000272190:L312F	L	-	3	2	REN	202391953	0.993000	0.37304	0.990000	0.47175	0.446000	0.32137	0.210000	0.17455	2.181000	0.69327	0.462000	0.41574	TTG		0.567	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		A	204125330	C	A	204125330	3	1	254	1	0	0	0	0	1	0	0	0	13224	593	21	5	296	5	REN	1	204125330	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	33066	204125330	45125291	4	18118											
GLI2	2736	broad.mit.edu	37	chr2	121748070	121748070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactcgagtttgttctcggGtgctctgagccccagcctcc	4	12	10	15	2	3	1	1	1	2	0	6	2	4	1	4	1	3	3	4	1	0	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr2:121748070G>T	ENST00000452319.1	+	14	4640	c.4580G>T	c.(4579-4581)gGt>gTt	p.G1527V	GLI2_ENST00000361492.4_Missense_Mutation_p.G1527V|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTGTTCTCGGGTGCTCTGAGC	0.622																																						uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4579-4581)gGt>gTt		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							130	143	139					2																	121748070		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748070G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4580G>T	2.37:g.121748070G>T	ENSP00000390436:p.Gly1527Val					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G1199V|GLI2_uc002tmu.4_Missense_Mutation_p.G1182V	p.G1527V	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	4610	+	Renal(3;0.0496)	Prostate(154;0.0623)	1527						Missense_Mutation	SNP	ENST00000452319.1	37	c.4580G>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336340	0.81801	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.33865	1.39;1.39	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69435	-0.5146	10	0.87932	D	0	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1527;1182	P10070;P10070-2	GLI2_HUMAN;.	V	1527	ENSP00000390436:G1527V;ENSP00000354586:G1527V	ENSP00000354586:G1527V	G	+	2	0	GLI2	121464540	1.000000	0.71417	0.643000	0.29450	0.961000	0.63080	7.828000	0.86729	2.581000	0.87130	0.555000	0.69702	GGT		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121748070	G	T	121748070	3	4	254	1	0	0	0	0	1	0	0	0	6438	1261	44	5	4630	5	GLI2	2	121748070	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		121748070	121451303	5	18119											
SEMA3G	56920	broad.mit.edu	37	chr3	52475334	52475334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcgagccaccatcgggCgaggggaccgtctccgagaa	8	6	15	12	5	1	1	0	0	1	1	4	5	1	2	4	4	1	1	4	4	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr3:52475334C>T	ENST00000231721.2	-	7	758	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	253	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCATCGGGCGAGGGGACCG	0.617																																						uc003dea.1																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(757-759)tcG>tcA		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.							81	58	66					3																	52475334		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475334C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.759G>A	3.37:g.52475334C>T							p.S253S	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	6	759	-			253			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.759G>A	CCDS2856.1																																																																																				0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		T	52475334	C	T	52475334	2	4	254	1	0	0	0	0	0	0	0	1	14030	755	27	1		1	SEMA3G	3	52475334	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		52475334	145547096	6	18120											
UGT2B4	7363	broad.mit.edu	37	chr4	70346533	70346533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttggctcctttatggCgcatgacaaattcaatccag	9	12	10	10	1	1	1	1	1	0	0	3	1	3	1	2	3	1	3	2	3	3	4			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr4:70346533C>T	ENST00000305107.6	-	6	1452	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333H|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	469					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TCCTTTATGGCGCATGACAAA	0.473																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1405-1407)cGc>cAc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							133	129	130					4																	70346533		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346533C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1406G>A	4.37:g.70346533C>T	ENSP00000305221:p.Arg469His					UGT2B4_uc011cap.2_Missense_Mutation_p.R333H|UGT2B4_uc003hel.4_3'UTR	p.R469H	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1453	-			469					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1406G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088395	0.36855	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.72725	-0.68;-0.68	2.11	2.11	0.27256	.	0.000000	0.64402	U	0.000003	T	0.69169	0.3081	M	0.73962	2.25	0.30230	N	0.795972	B;B	0.30439	0.157;0.279	B;B	0.34931	0.192;0.159	T	0.72047	-0.4408	10	0.62326	D	0.03	.	10.2729	0.43493	0.0:1.0:0.0:0.0	.	333;469	A6NCP7;P06133	.;UD2B4_HUMAN	H	469;333	ENSP00000305221:R469H;ENSP00000370486:R333H	ENSP00000305221:R469H	R	-	2	0	UGT2B4	70381122	0.812000	0.29077	0.993000	0.49108	0.376000	0.30014	2.081000	0.41596	1.508000	0.48769	0.305000	0.20034	CGC		0.473	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		T	70346533	C	T	70346533	3	4	254	1	0	0	0	0	1	0	0	0	16958	768	27	1	184	1	UGT2B4	4	70346533	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		70346533	120807743	7	18121											
NPR3	4883	broad.mit.edu	37	chr5	32774858	32774858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgccatcctcctctaCgtcttggctctacatgaagt	8	12	7	14	2	3	1	0	1	3	0	5	2	5	1	3	1	3	1	3	1	3	3	rs140897654	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:32774858C>T	ENST00000265074.8	+	4	1447	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	NPR3_ENST00000415685.2_Silent_p.Y152Y|NPR3_ENST00000415167.2_Silent_p.Y368Y|NPR3_ENST00000434067.2_Silent_p.Y152Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	368					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.Y368Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCTCCTCTACGTCTTGGCTC	0.443													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		21330	0		0	False		,,,				2504	0					uc003jhv.3																			1	Substitution - coding silent(1)	p.Y368Y(2)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1102-1104)taC>taT		Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	Nesiritide(DB04899)	C	,,	17,3783		0,17,1883	214	201	205		1104,1104,456	-5.4	0.8	5	dbSNP_134	205	0,8232		0,0,4116	no	coding-synonymous,coding-synonymous,coding-synonymous	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	,,	0,17,5999	TT,TC,CC		0.0,0.4474,0.1413	,,	368/541,368/542,152/325	32774858	17,12015	1900	4116	6016	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774858C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1104C>T	5.37:g.32774858C>T						NPR3_uc010iuo.3_Silent_p.Y152Y|NPR3_uc003jhw.2_Silent_p.Y152Y|NPR3_uc003jhu.3_Silent_p.Y368Y	p.Y368Y	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN			3	1549	+			368					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.1104C>T	CCDS56357.1																																																																																				0.443	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		T	32774858	C	T	32774858	2	4	254	1	0	0	0	0	0	0	0	1	10596	547	19	1		1	NPR3	5	32774858	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		32774858	148140402	8	18122											
STK32A	202374	broad.mit.edu	37	chr5	146750222	146750222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttctcccttaagagaccGtatcatattcgctccagtac	9	14	5	13	2	2	1	1	0	1	1	5	2	3	1	3	0	1	3	3	0	4	7	rs368677802		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:146750222G>A	ENST00000397936.3	+	9	999	c.666G>A	c.(664-666)ccG>ccA	p.P222P	STK32A_ENST00000398523.3_Silent_p.P222P	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAGACCGTATCATATTC	0.378																																						uc011dbw.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(664-666)ccG>ccA		Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.		A		2,3134		0,2,1566	161	139	146		666	1.8	1	5		146	0,7164		0,0,3582	no	coding-synonymous	STK32A	NM_001112724.1		0,2,5148	AA,AG,GG		0.0,0.0638,0.0194		222/397	146750222	2,10298	1568	3582	5150	SO:0001819	synonymous_variant	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146750222G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.666G>A	5.37:g.146750222G>A						STK32A_uc003lom.2_Silent_p.P222P|STK32A_uc010jgn.1_Silent_p.P222P	p.P222P	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	946	+			222			Protein kinase.		B3KSY0	Silent	SNP	ENST00000397936.3	37	c.666G>A	CCDS47299.1																																																																																				0.378	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		A	146750222	G	A	146750222	2	1	254	1	0	0	0	0	0	0	0	1	15296	1132	40	1		1	STK32A	5	146750222	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08	113975364	146750222	34165038	9	18123											
ABLIM3	22885	broad.mit.edu	37	chr5	148619445	148619445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctcaccactactacCgctctggtaaggaaggggga	10	7	11	13	1	3	0	2	0	1	0	3	2	3	2	3	4	2	3	3	4	4	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:148619445C>T	ENST00000506113.1	+	12	1680	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R338C|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R338C|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R338C|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R400C|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R400C			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTACCGCTCTGGTAA	0.647																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1198-1200)Cgc>Tgc		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							68	65	66					5																	148619445		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619445C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1198C>T	5.37:g.148619445C>T	ENSP00000425394:p.Arg400Cys					ABLIM3_uc003lpz.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346C|ABLIM3_uc003lqb.3_Missense_Mutation_p.R338C|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqf.3_Missense_Mutation_p.R338C	p.R400C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1449	+			400					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1198C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068155	0.76301	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.54479	0.57;1.44;0.57;0.57;1.44;0.57	5.0	5.0	0.66597	.	0.433417	0.26816	N	0.022350	T	0.64746	0.2626	L	0.46157	1.445	0.54753	D	0.999988	D;D;D	0.89917	1.0;0.999;0.98	D;P;B	0.81914	0.995;0.736;0.35	T	0.63928	-0.6526	10	0.49607	T	0.09	.	13.4466	0.61144	0.1566:0.8434:0.0:0.0	.	338;338;400	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	C	338;338;400;400;338;400	ENSP00000315841:R338C;ENSP00000348938:R338C;ENSP00000310309:R400C;ENSP00000425394:R400C;ENSP00000421183:R338C;ENSP00000420855:R400C	ENSP00000310309:R400C	R	+	1	0	ABLIM3	148599638	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.431000	0.44775	2.598000	0.87819	0.462000	0.41574	CGC		0.647	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		T	148619445	C	T	148619445	3	4	254	1	0	0	0	0	1	0	0	0	96	652	23	2	1244	2	ABLIM3	5	148619445	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	1869223	148619445	32295815	10	18124											
MYO6	4646	broad.mit.edu	37	chr6	76566831	76566834	+	Frame_Shift_Del	DEL	AGCA	AGCA	-																															tagggtacctctgaaagtggAgcaagcaaacaatgctcgtg																								rs575443817		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:76566831_76566834delAGCA	ENST00000369977.3	+	13	1380_1383	c.1241_1244delAGCA	c.(1240-1245)gagcaafs	p.EQ414fs	MYO6_ENST00000369985.4_Frame_Shift_Del_p.EQ414fs|MYO6_ENST00000369981.3_Frame_Shift_Del_p.EQ414fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.EQ414fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	414	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTGAAAGTGGAGCAAGCAAACAAT	0.377																																						uc003pih.1																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1240-1245)gagcaafs		Homo sapiens myosin VI (MYO6), mRNA.																																				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76566831_76566834delAGCA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1241_1244delAGCA	6.37:g.76566835_76566838delAGCA	ENSP00000358994:p.Glu414fs					MYO6_uc003pig.1_Frame_Shift_Del_p.E414fs|MYO6_uc003pii.1_Frame_Shift_Del_p.E414fs	p.E414fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	12	1520_1523	+		all_hematologic(105;0.189)	414			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	ENST00000369977.3	37	c.1241_1244delAGCA	CCDS34487.1																																																																																				0.377	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		-	76566834	AGCA	-	76566831	7	5	254	1	0	1	0	1	0	0	0	0	10081	304	11	0	1287	0	MYO6	6	76566831	Frame_Shift_Del	DEL	AGCA	TCGA-74-6577-01A-11D-1845-08		76566831	94548236	11	18125											
PKD1L1	168507	broad.mit.edu	37	chr7	47869692	47869692	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggagagggacagcaggtgCagccactgcacacattgctc	11	5	13	12	1	0	1	0	0	0	1	1	3	0	2	1	3	5	4	1	3	0	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:47869692C>T	ENST00000289672.2	-	43	6554	c.6504G>A	c.(6502-6504)ctG>ctA	p.L2168L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2168					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGGTGCAGCCACTGCA	0.577																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(6502-6504)ctG>ctA		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.							68	58	62					7																	47869692		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47869692C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6504G>A	7.37:g.47869692C>T						C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'Flank	p.L2168L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			42	6538	-			2168					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.6504G>A	CCDS34633.1																																																																																				0.577	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47869692	C	T	47869692	2	4	254	1	0	0	0	0	0	0	0	1	11964	697	25	3		3	PKD1L1	7	47869692	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		47869692	111268971	12	18126											
ZP3	7784	broad.mit.edu	37	chr7	76054396	76054396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccatcctgagacgtccGtacagcccgtactggtggag	8	7	12	14	3	0	1	0	1	0	1	2	3	2	2	5	2	4	2	5	2	2	2	rs370377360		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:76054396G>A	ENST00000394857.3	+	1	173	c.115G>A	c.(115-117)Gta>Ata	p.V39I	ZP3_ENST00000336517.4_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	39					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TGAGACGTCCGTACAGCCCGT	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		21085	0		0	False		,,,				2504	0					uc003ufd.4																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(115-117)Gta>Ata		Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.		G	ILE/VAL,	1,4405		0,1,2202	38	32	34		115,	-7.2	0	7		34	0,8600		0,0,4300	no	missense,utr-5	ZP3	NM_001110354.1,NM_007155.5	29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	39/425,	76054396	1,13005	2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054396G>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.115G>A	7.37:g.76054396G>A	ENSP00000378326:p.Val39Ile					ZP3_uc003ufc.4_5'UTR	p.V39I	NM_001110354	NP_009086	P21754	ZP3_HUMAN			0	125	+			39					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.115G>A	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	8.129	0.782666	0.16189	2.27E-4	0.0	ENSG00000188372	ENST00000394857;ENST00000544121	T	0.12147	2.71	3.58	-7.15	0.01521	.	7.331800	0.00824	U	0.001610	T	0.07234	0.0183	L	0.29908	0.895	0.09310	N	1	B	0.29909	0.261	B	0.15870	0.014	T	0.15263	-1.0443	10	0.37606	T	0.19	2.4138	1.9813	0.03427	0.2872:0.35:0.2463:0.1166	.	39	P21754	ZP3_HUMAN	I	39	ENSP00000378326:V39I	ENSP00000378326:V39I	V	+	1	0	ZP3	75892332	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.784000	0.01769	-1.440000	0.01960	-1.815000	0.00603	GTA		0.592	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			A	76054396	G	A	76054396	3	1	254	1	0	0	0	0	1	0	0	0	18214	1145	40	1	117	1	ZP3	7	76054396	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	28184704	76054396	83084267	13	18127											
RBM28	55131	broad.mit.edu	37	chr7	127954955	127954956	+	Missense_Mutation	DNP	GG	GG	TT																															ccgcctttctcttctgctctGggggcaccttgctttgttcc																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:127954955_127954956GG>TT	ENST00000223073.2	-	17	2020_2021	c.1906_1907CC>AA	c.(1906-1908)CCa>AAa	p.P636K	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.P495K	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	636					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCTGCTCTGGGGGCACCTTG	0.564																																						uc003vmp.2																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1906-1908)cca>AAa		Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.																																				SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127954955_127954956GG>TT	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1906_1907delinsTT	7.37:g.127954955_127954956delinsTT	ENSP00000223073:p.Pro636Lys					RBM28_uc011koj.1_Missense_Mutation_p.P495K	p.P636K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			16	2021_2022	-			636					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	DNP	ENST00000223073.2	37	c.1906_1907CC>AA	CCDS5801.1																																																																																				0.564	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		TT	127954956	GG	TT	127954955	3	4	254	1	0	0	0	0	1	0	0	0	13128	1348	47	5	384	5	RBM28	7	127954955	Missense_Mutation	DNP	GG	TCGA-74-6577-01A-11D-1845-08	51900559	127954955	31183708	14	18128											
MLL3	58508	broad.mit.edu	37	chr7	151945253	151945253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactttatagatttgcctcCttggtatgaaacatctttca	11	17	5	8	0	2	2	1	1	1	1	3	2	3	2	2	1	3	1	2	1	5	8			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:151945253C>T	ENST00000262189.6	-	14	2484	c.2266G>A	c.(2266-2268)Gga>Aga	p.G756R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G756R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	756					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATTTGCCTCCTTGGTATGAA	0.393																																						uc003wla.3										N							medulloblastoma		0		p.G756A(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(2266-2268)Gga>Aga		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							106	98	101					7																	151945253		2203	4296	6499	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945253C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2266G>A	7.37:g.151945253C>T	ENSP00000262189:p.Gly756Arg						p.G756R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	13	2485	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	756					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2266G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145668	0.09134	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	.	0.402362	0.17894	N	0.158405	T	0.72334	0.3447	N	0.24115	0.695	0.46396	D	0.999027	B	0.11235	0.004	B	0.08055	0.003	T	0.65772	-0.6087	10	0.19590	T	0.45	.	14.1041	0.65078	0.0:0.9254:0.0:0.0746	.	756	Q8NEZ4	MLL3_HUMAN	R	756	ENSP00000262189:G756R;ENSP00000347325:G756R	ENSP00000262189:G756R	G	-	1	0	MLL3	151576186	0.070000	0.21116	0.013000	0.15412	0.227000	0.25037	3.643000	0.54374	2.416000	0.81992	0.650000	0.86243	GGA		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151945253	C	T	151945253	3	4	254	1	0	0	0	0	1	0	0	0	9622	690	24	3	12653	3	MLL3	7	151945253	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	23990298	151945253	7193410	15	18129											
PTPRN2	5799	broad.mit.edu	37	chr7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtggcgtcggagggCgttggccagggcagcaccgc	5	4	21	11	4	0	0	0	0	0	0	1	1	0	1	2	7	1	4	2	7	0	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:157985120C>T	ENST00000389418.4	-	5	457	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A133T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A150T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A112T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A173T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	150					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTCGGAGGGCGTTGGCCAGG	0.652																																						uc003wno.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(448-450)Gcc>Acc		Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.							49	58	55					7																	157985120		2202	4300	6502	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157985120C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.448G>A	7.37:g.157985120C>T	ENSP00000374069:p.Ala150Thr					PTPRN2_uc003wnp.3_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.3_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.3_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.2_Missense_Mutation_p.A173T	p.A150T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	4	569	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	150					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.448G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081417	0.00371	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02709	4.21;4.21;4.2;4.2;4.19	4.17	-0.898	0.10550	.	0.660669	0.11888	N	0.519865	T	0.01254	0.0041	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.22983	0.078;0.047;0.078;0.047;0.047	B;B;B;B;B	0.17979	0.02;0.003;0.007;0.003;0.003	T	0.49184	-0.8966	10	0.24483	T	0.36	.	8.5126	0.33226	0.0:0.2057:0.0:0.7943	.	173;112;150;133;150	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	112;150;133;150;173	ENSP00000387114:A112T;ENSP00000374064:A150T;ENSP00000374067:A133T;ENSP00000374069:A150T;ENSP00000385464:A173T	ENSP00000374064:A150T	A	-	1	0	PTPRN2	157677881	0.010000	0.17322	0.003000	0.11579	0.002000	0.02628	-0.477000	0.06583	-0.241000	0.09681	-0.229000	0.12294	GCC		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157985120	C	T	157985120	3	4	254	1	0	0	0	0	1	0	0	0	12808	768	27	1	2675	1	PTPRN2	7	157985120	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	6039867	157985120	1153543	16	18130											
VPS13B	157680	broad.mit.edu	37	chr8	100821739	100821739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcaaggttcagcaacTcaatggagtacaaaaacagg	17	7	8	9	0	4	0	4	0	0	0	4	1	4	1	0	3	4	3	0	3	6	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr8:100821739T>C	ENST00000358544.2	+	44	8264	c.8153T>C	c.(8152-8154)cTc>cCc	p.L2718P	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2693P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2718					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCAACTCAATGGAGTA	0.383																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8152-8154)cTc>cCc		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							99	98	98					8																	100821739		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100821739T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8153T>C	8.37:g.100821739T>C	ENSP00000351346:p.Leu2718Pro					VPS13B_uc003yiw.3_Missense_Mutation_p.L2693P	p.L2718P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		43	8264	+	Breast(36;3.73e-07)		2718					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8153T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705668	0.68615	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.75704	-0.95;-0.96	5.33	5.33	0.75918	.	0.305249	0.31589	N	0.007392	T	0.81763	0.4891	L	0.58101	1.795	0.80722	D	1	P;D	0.52996	0.946;0.957	P;P	0.58721	0.714;0.844	D	0.83977	0.0330	10	0.87932	D	0	.	15.5919	0.76537	0.0:0.0:0.0:1.0	.	2693;2718	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	P	2693;2718	ENSP00000349685:L2693P;ENSP00000351346:L2718P	ENSP00000349685:L2693P	L	+	2	0	VPS13B	100890915	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	7.761000	0.85260	2.148000	0.66965	0.523000	0.50628	CTC		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		C	100821739	T	C	100821739	3	2	254	1	0	0	0	0	1	0	0	0	17187	1551	54	4	8517	4	VPS13B	8	100821739	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08		100821739	45542283	17	18131											
PRUNE2	158471	broad.mit.edu	37	chr9	79324782	79324782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatgatcttctttaccaAatgcactccaggctgggaat	11	12	7	11	0	3	1	1	1	2	0	4	2	4	2	2	2	2	2	2	2	3	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:79324782A>T	ENST00000376718.3	-	8	2531	c.2408T>A	c.(2407-2409)tTt>tAt	p.F803Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.F444Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	803					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTTTACCAAATGCACTCCA	0.517																																						uc010mpk.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2407-2409)tTt>tAt		Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.							42	39	40					9																	79324782		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324782A>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2408T>A	9.37:g.79324782A>T	ENSP00000365908:p.Phe803Tyr					PRUNE2_uc022bih.1_Missense_Mutation_p.F625Y	p.F803Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			7	2532	-			803					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2408T>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205418	0.39003	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.22336	1.96;1.96	5.71	5.71	0.89125	.	0.133222	0.34853	N	0.003636	T	0.33265	0.0857	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.62491	0.903	T	0.05869	-1.0859	10	0.87932	D	0	-12.1252	14.5522	0.68075	1.0:0.0:0.0:0.0	.	803	Q8WUY3	PRUN2_HUMAN	Y	803;444;802	ENSP00000365908:F803Y;ENSP00000397425:F444Y	ENSP00000365908:F803Y	F	-	2	0	PRUNE2	78514602	0.946000	0.32159	0.997000	0.53966	0.075000	0.17131	4.253000	0.58791	2.179000	0.69175	0.379000	0.24179	TTT		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79324782	A	T	79324782	3	4	254	1	0	0	0	0	1	0	0	0	12641	14	1	5	6906	5	PRUNE2	9	79324782	Missense_Mutation	SNP	A	TCGA-74-6577-01A-11D-1845-08		79324782	61888649	18	18132											
SVEP1	79987	broad.mit.edu	37	chr9	113171158	113171158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcttggcagacaaatacaGgacttccgactgacttatag	12	10	10	9	1	0	2	0	1	0	1	1	4	1	3	1	3	1	2	1	3	4	5	rs373881233		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:113171158G>A	ENST00000401783.2	-	38	7058	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2218L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P167L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2241	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACAAATACAGGACTTCCGAC	0.507																																						uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6721-6723)cCt>cTt		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							130	134	133					9																	113171158		2033	4202	6235	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171158G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6722C>T	9.37:g.113171158G>A	ENSP00000384917:p.Pro2241Leu					SVEP1_uc010mty.3_Missense_Mutation_p.P167L	p.P2241L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	7059	-			2241			Sushi 14.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6722C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407249	0.11754	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64260	-0.09;-0.09;-0.09	5.95	4.14	0.48551	Complement control module (2);Sushi/SCR/CCP (3);	0.209785	0.51477	N	0.000100	T	0.54727	0.1876	M	0.63169	1.94	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.48692	-0.9013	10	0.29301	T	0.29	.	7.4484	0.27223	0.1365:0.0:0.7282:0.1353	.	2241	Q4LDE5	SVEP1_HUMAN	L	2241;2218;167	ENSP00000384917:P2241L;ENSP00000363593:P2218L;ENSP00000297826:P167L	ENSP00000297826:P167L	P	-	2	0	SVEP1	112210979	1.000000	0.71417	0.998000	0.56505	0.406000	0.30931	3.836000	0.55813	0.866000	0.35629	-0.137000	0.14449	CCT		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113171158	G	A	113171158	3	1	254	1	0	0	0	0	1	0	0	0	15417	1000	35	3	4037	3	SVEP1	9	113171158	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	33846376	113171158	28042273	19	18133											
C9orf84	158401	broad.mit.edu	37	chr9	114475419	114475419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatgagaaaatgtttttCaccgtctgagtccattctta	11	17	6	7	1	3	2	1	2	2	1	4	3	4	2	2	0	0	1	2	0	4	6			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:114475419C>G	ENST00000318737.4	-	16	2385	c.2257G>C	c.(2257-2259)Gaa>Caa	p.E753Q	C9orf84_ENST00000394779.3_Missense_Mutation_p.E714Q|C9orf84_ENST00000394777.4_Missense_Mutation_p.E679Q|C9orf84_ENST00000374287.3_Missense_Mutation_p.E753Q	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	753										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGTTTTTCACCGTCTGAG	0.259																																						uc004bfr.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2257-2259)Gaa>Caa		Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.							26	27	27					9																	114475419		2191	4261	6452	SO:0001583	missense	158401							g.chr9:114475419C>G	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2257G>C	9.37:g.114475419C>G	ENSP00000322108:p.Glu753Gln					C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.E714Q|C9orf84_uc010mug.3_Missense_Mutation_p.E664Q	p.E753Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			15	2392	-			753					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2257G>C	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165832	0.78339	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06371	3.31;3.38;3.32;3.32	5.53	5.53	0.82687	.	0.111728	0.40385	N	0.001110	T	0.17746	0.0426	L	0.34521	1.04	0.32213	N	0.576265	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.984;0.996;0.984	T	0.00984	-1.1491	10	0.56958	D	0.05	-10.9449	18.2336	0.89942	0.0:1.0:0.0:0.0	.	679;753;714	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Q	714;679;367;753;753	ENSP00000378259:E714Q;ENSP00000378257:E679Q;ENSP00000363405:E753Q;ENSP00000322108:E753Q	ENSP00000322108:E753Q	E	-	1	0	C9orf84	113515240	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	4.600000	0.61083	2.588000	0.87417	0.650000	0.86243	GAA		0.259	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		G	114475419	C	G	114475419	3	3	254	1	0	0	0	0	1	0	0	0	2500	835	29	5	2121	5	C9orf84	9	114475419	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	1304261	114475419	26738012	20	18134											
PAPPA	5069	broad.mit.edu	37	chr9	118982397	118982397	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccacctatagatggccaTttctttgaaaggtgagtgtg	9	14	10	8	0	1	3	0	2	1	1	2	3	2	3	3	2	0	0	3	2	3	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:118982397T>C	ENST00000328252.3	+	5	2469	c.2100T>C	c.(2098-2100)caT>caC	p.H700H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	700					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGATGGCCATTTCTTTGAAA	0.547																																						uc004bjn.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2098-2100)caT>caC		Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.							151	137	141					9																	118982397		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982397T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2100T>C	9.37:g.118982397T>C						PAPPA_uc011lxp.1_Silent_p.H395H|PAPPA_uc011lxq.2_Intron	p.H700H	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			4	2481	+			700					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.2100T>C	CCDS6813.1																																																																																				0.547	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		C	118982397	T	C	118982397	2	2	254	1	0	0	0	0	0	0	0	1	11432	1490	52	4		4	PAPPA	9	118982397	Silent	SNP	T	TCGA-74-6577-01A-11D-1845-08	4506978	118982397	22231034	21	18135											
PTEN	5728	broad.mit.edu	37	chr10	89720855	89720856	+	Frame_Shift_Ins	INS	-	-	A																															taaagacaaagccaaccgatINSacttttctccaaattttaag																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr10:89720855_89720856insA	ENST00000371953.3	+	8	2363_2364	c.1006_1007insA	c.(1006-1008)tacfs	p.Y336fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	336	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.Y336*(1)|p.Y336F(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCAACCGATACTTTTCTCCA	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		56	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(3)|Unknown(2)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	p.0?(37)|p.R335*(25)|p.Y336*(6)|p.R55fs*1(5)|p.R335fs*8(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.R335fs*7(2)|p.W274_F341del(2)|p.Y336F(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335G(1)|p.R335R(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CI983205	PTEN	I		c.(1006-1008)tacfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720855_89720856insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1007dupA	10.37:g.89720856_89720856dupA	ENSP00000361021:p.Tyr336fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y336fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2038_2039	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	336			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.1006_1007insA	CCDS31238.1																																																																																				0.337	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89720856	-	A	89720855	7	5	254	1	0	1	1	0	0	0	0	0	12738	1406	49	0	1036	0	PTEN	10	89720855	Frame_Shift_Ins	INS	-	TCGA-74-6577-01A-11D-1845-08		89720855	45813892	22	18136											
USH1C	10083	broad.mit.edu	37	chr11	17519716	17519716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttattcttaccccgcccTgattccaggccttctgcagg	5	12	8	16	1	2	1	0	1	2	0	3	1	3	1	6	2	2	1	6	2	2	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:17519716T>C	ENST00000318024.4	-	19	1691	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.Q509R|USH1C_ENST00000005226.7_Missense_Mutation_p.Q828R|USH1C_ENST00000527720.1_Missense_Mutation_p.Q497R	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	528	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACCCCGCCCTGATTCCAGGC	0.577																																						uc001mnf.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1582-1584)cAg>cGg		Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.							179	146	157					11																	17519716		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17519716T>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1583A>G	11.37:g.17519716T>C	ENSP00000317018:p.Gln528Arg					USH1C_uc001mne.3_Missense_Mutation_p.Q828R|USH1C_uc009yhb.3_Missense_Mutation_p.Q509R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.Q492R	p.Q528R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			18	1692	-			528			PDZ 3.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1583A>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685159	0.29872	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	PDZ/DHR/GLGF (2);	0.736452	0.13326	N	0.396316	T	0.18087	0.0434	N	0.08118	0	0.24250	N	0.995323	B;B;B	0.19583	0.017;0.021;0.037	B;B;B	0.29942	0.044;0.073;0.109	T	0.25882	-1.0119	10	0.23891	T	0.37	.	9.6604	0.39952	0.1558:0.0:0.0:0.8442	.	509;528;828	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	R	528;497;509;828	ENSP00000317018:Q528R;ENSP00000432944:Q497R;ENSP00000436934:Q509R;ENSP00000005226:Q828R	ENSP00000005226:Q828R	Q	-	2	0	USH1C	17476292	0.998000	0.40836	0.997000	0.53966	0.564000	0.35744	3.068000	0.50018	1.905000	0.55150	0.459000	0.35465	CAG		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		C	17519716	T	C	17519716	3	2	254	1	0	0	0	0	1	0	0	0	17031	1580	55	4	232	4	USH1C	11	17519716	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08		17519716	117486800	23	18137											
PRG2	5553	broad.mit.edu	37	chr11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggtacacagggccaCgcagtgaccaccgcgggacc	9	3	13	16	4	0	1	0	1	0	0	1	2	0	2	5	3	1	2	5	3	1	1	rs374576971		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:57155245C>T	ENST00000311862.5	-	5	665	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	PRG2_ENST00000525955.1_Missense_Mutation_p.V198M|PRG2_ENST00000533605.1_Missense_Mutation_p.V187M	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CACAGGGCCACGCAGTGACCA	0.617																																						uc001nkc.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(592-594)Gtg>Atg		Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.		C	MET/VAL	1,4395		0,1,2197	20	20	20		592	4.3	0.8	11		20	1,8585		0,1,4292	no	missense	PRG2	NM_002728.4	21	0,2,6489	TT,TC,CC		0.0116,0.0227,0.0154		198/223	57155245	2,12980	2198	4293	6491	SO:0001583	missense	5553				transmembrane transport	integral to membrane		g.chr11:57155245C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.592G>A	11.37:g.57155245C>T	ENSP00000312134:p.Val198Met					SLC43A3_uc001nkd.3_Missense_Mutation_p.V187M|SLC43A3_uc001nke.3_Missense_Mutation_p.V478M	p.V198M	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN			4	666	-			0					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.592G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504019	0.64410	2.27E-4	1.16E-4	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.23348	1.91;1.91;1.91	5.19	4.28	0.50868	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.190670	0.25929	N	0.027397	T	0.53948	0.1828	M	0.89163	3.01	0.24761	N	0.992927	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	T	0.52298	-0.8594	10	0.87932	D	0	.	9.5057	0.39044	0.0:0.9025:0.0:0.0975	.	187;198	A6XMW0;P13727	.;PRG2_HUMAN	M	198;187;198	ENSP00000312134:V198M;ENSP00000433231:V187M;ENSP00000433016:V198M	ENSP00000312134:V198M	V	-	1	0	PRG2	56911821	0.096000	0.21769	0.793000	0.32043	0.010000	0.07245	0.478000	0.22212	1.172000	0.42781	0.650000	0.86243	GTG		0.617	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		T	57155245	C	T	57155245	3	4	254	1	0	0	0	0	1	0	0	0	12479	536	19	1	84	1	PRG2	11	57155245	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	39635529	57155245	77851271	24	18138											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		1	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		T	25398284	C	T	25398284	3	4	254	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		25398284	108453611	25	18139											
AQP2	359	broad.mit.edu	37	chr12	50344911	50344911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgggggctgtggccGgagccgctctgctccatgag	4	8	17	12	2	1	1	0	1	1	0	2	2	2	2	3	4	4	5	3	4	0	0			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:50344911G>A	ENST00000199280.3	+	1	383	c.298G>A	c.(298-300)Gga>Aga	p.G100R	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	100			G -> R (in ANDI). {ECO:0000269|PubMed:16845277}.|G -> V (in ANDI; dbSNP:rs28929477). {ECO:0000269|PubMed:12050236}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCTGTGGCCGGAGCCGCTCT	0.647																																						uc001rvn.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10	GRCh37	CM062427|CM970099	AQP2	M		c.(298-300)Gga>Aga		Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.							21	21	21					12																	50344911		2201	4296	6497	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344911G>A		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.298G>A	12.37:g.50344911G>A	ENSP00000199280:p.Gly100Arg						p.G100R	NM_000486	NP_000477	P41181	AQP2_HUMAN			0	388	+			100		G -> R (in ANDI).|G -> V (in ANDI; dbSNP:rs28929477).			Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.298G>A	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583892	0.86748	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.95724	-3.79;0.32	4.67	4.67	0.58626	Aquaporin-like (2);	0.000000	0.56097	D	0.000034	D	0.98836	0.9607	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99113	1.0847	10	0.87932	D	0	-21.7608	15.4708	0.75439	0.0:0.0:1.0:0.0	.	100	P41181	AQP2_HUMAN	R	100	ENSP00000199280:G100R;ENSP00000450022:G100R	ENSP00000199280:G100R	G	+	1	0	AQP2	48631178	1.000000	0.71417	0.645000	0.29479	0.816000	0.46133	9.869000	0.99810	2.323000	0.78572	0.655000	0.94253	GGA		0.647	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		A	50344911	G	A	50344911	3	1	254	1	0	0	0	0	1	0	0	0	826	1117	39	2	300	2	AQP2	12	50344911	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	24946627	50344911	83506984	26	18140											
NACA	4666	broad.mit.edu	37	chr12	57108166	57108166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtgccttcttttcacTccgactctgttttgctttac	3	19	5	14	2	3	0	1	0	2	0	5	1	5	0	3	0	3	2	3	0	1	8			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:57108166T>C	ENST00000454682.1	-	5	6084	c.5803A>G	c.(5803-5805)Agt>Ggt	p.S1935G	NACA_ENST00000356769.3_Missense_Mutation_p.S72G|NACA_ENST00000550952.1_Missense_Mutation_p.S782G|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000552540.1_Missense_Mutation_p.S72G|NACA_ENST00000546392.1_Missense_Mutation_p.S72G|NACA_ENST00000393891.4_Missense_Mutation_p.S72G|NACA_ENST00000551793.1_5'UTR	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1935	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTTTTCACTCCGACTCTGT	0.393			T	BCL6	NHL																																	uc001sly.2				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(214-216)Agt>Ggt		Homo sapiens nascent polypeptide-associated complex alpha subunit (NACA), transcript variant 4, mRNA.							142	126	131					12																	57108166		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57108166T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5803A>G	12.37:g.57108166T>C	ENSP00000403817:p.Ser1935Gly					NACA_uc021qze.1_Missense_Mutation_p.S1935G|NACA_uc001slz.2_Missense_Mutation_p.S72G|NACA_uc001sma.2_Missense_Mutation_p.S782G|NACA_uc001smc.2_Missense_Mutation_p.S72G|NACA_uc010squ.1_Intron	p.S72G	NM_001113202	NP_001106673	Q13765	NACA_HUMAN			3	537	-			72			NAC-A/B.|Required for DNA-binding (By similarity).			Missense_Mutation	SNP	ENST00000454682.1	37	c.214A>G		.	.	.	.	.	.	.	.	.	.	T	15.84	2.953019	0.53293	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.50001	0.91;0.8;0.76;0.91;0.91;0.91;0.91;0.91;0.84;0.87	4.73	4.73	0.59995	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	N	0.12887	0.27	0.53688	D	0.99997	B;B;B	0.32753	0.077;0.383;0.034	B;P;B	0.48598	0.143;0.583;0.01	T	0.29761	-1.0001	10	0.13470	T	0.59	.	13.1877	0.59691	0.0:0.0:0.0:1.0	.	1935;782;72	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	G	70;1935;782;72;72;72;72;72;68;72	ENSP00000448039:S70G;ENSP00000403817:S1935G;ENSP00000448035:S782G;ENSP00000349212:S72G;ENSP00000447821:S72G;ENSP00000377469:S72G;ENSP00000446801:S72G;ENSP00000447133:S72G;ENSP00000450383:S68G;ENSP00000447764:S72G	ENSP00000349212:S72G	S	-	1	0	NACA	55394433	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.972000	0.88022	1.758000	0.51981	0.377000	0.23210	AGT		0.393	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		C	57108166	T	C	57108166	3	2	254	1	0	0	0	0	1	0	0	0	10133	1551	54	4	453	4	NACA	12	57108166	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08	6763255	57108166	76743729	27	18141											
OR4K2	390431	broad.mit.edu	37	chr14	20345324	20345324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaagatagccatgaggAaactgaaaaataggtttcta	19	9	9	4	0	1	3	0	2	1	1	1	4	1	4	1	2	2	2	1	2	9	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20345324A>G	ENST00000298642.2	+	1	934	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCCATGAGGAAACTGAAAAA	0.348																																						uc001vwh.1																			0		p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(898-900)Aaa>Gaa		Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.							71	76	74					14																	20345324		2202	4299	6501	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345324A>G		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.898A>G	14.37:g.20345324A>G	ENSP00000298642:p.Lys300Glu						p.K300E	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	898	+	all_cancers(95;0.00108)		300					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.898A>G	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	16.12	3.031989	0.54790	.	.	ENSG00000165762	ENST00000298642	T	0.40476	1.03	5.16	4.01	0.46588	.	0.119337	0.37623	N	0.002018	T	0.53753	0.1816	L	0.52266	1.64	0.30036	N	0.81305	D	0.76494	0.999	D	0.68353	0.957	T	0.55321	-0.8159	10	0.87932	D	0	.	9.2248	0.37400	0.9136:0.0:0.0864:0.0	.	300	Q8NGD2	OR4K2_HUMAN	E	300	ENSP00000298642:K300E	ENSP00000298642:K300E	K	+	1	0	OR4K2	19415164	0.417000	0.25432	0.990000	0.47175	0.635000	0.38103	4.824000	0.62701	0.973000	0.38340	0.482000	0.46254	AAA		0.348	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			G	20345324	A	G	20345324	3	3	254	1	0	0	0	0	1	0	0	0	11072	247	9	4	900	4	OR4K2	14	20345324	Missense_Mutation	SNP	A	TCGA-74-6577-01A-11D-1845-08		20345324	87004216	28	18142											
TTC5	91875	broad.mit.edu	37	chr14	20760171	20760171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaattcggtgaagccGcaggttgggctcaggaatgg	8	9	17	7	2	1	2	1	2	0	0	2	3	1	3	1	5	2	4	1	5	3	2	rs200172808		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20760171G>A	ENST00000258821.3	-	9	1230	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	392					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGGTGAAGCCGCAGGTTGGGC	0.453																																						uc001vwt.3																			0		p.R392Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1174-1176)Cgg>Tgg		Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.							81	68	73					14																	20760171		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20760171G>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1174C>T	14.37:g.20760171G>A	ENSP00000258821:p.Arg392Trp					TTC5_uc001vwu.3_Missense_Mutation_p.R249W	p.R392W	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	8	1231	-	all_cancers(95;0.00092)		392					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.1174C>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.958835|2.958835	0.53400|0.53400	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.34859	.|1.34	4.85|4.85	3.95|3.95	0.45737|0.45737	.|.	.|0.121033	.|0.56097	.|D	.|0.000040	T|T	0.44414|0.44414	0.1292|0.1292	L|L	0.34521|0.34521	1.04|1.04	0.40822|0.40822	D|D	0.983517|0.983517	.|D	.|0.89917	.|1.0	.|D	.|0.63283	.|0.913	T|T	0.46162|0.46162	-0.9211|-0.9211	5|10	.|0.66056	.|D	.|0.02	.|.	11.952|11.952	0.52961|0.52961	0.0:0.0:0.6869:0.3131|0.0:0.0:0.6869:0.3131	.|.	.|392	.|Q8N0Z6	.|TTC5_HUMAN	V|W	336|392	.|ENSP00000258821:R392W	.|ENSP00000258821:R392W	A|R	-|-	2|1	0|2	TTC5|TTC5	19830011|19830011	0.975000|0.975000	0.34042|0.34042	0.894000|0.894000	0.35097|0.35097	0.464000|0.464000	0.32679|0.32679	3.082000|3.082000	0.50128|0.50128	1.396000|1.396000	0.46663|0.46663	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.453	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		A	20760171	G	A	20760171	3	1	254	1	0	0	0	0	1	0	0	0	16708	1086	38	1	156	1	TTC5	14	20760171	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	414847	20760171	86589369	29	18143											
LTB4R2	56413	broad.mit.edu	37	chr14	24779987	24779987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctgcctggcaacggCttcgtggtgtggagcttggc	3	10	18	10	2	0	0	0	0	0	0	1	1	0	1	1	7	3	4	1	7	1	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:24779987C>A	ENST00000528054.1	+	1	1827	c.210C>A	c.(208-210)ggC>ggA	p.G70G	CIDEB_ENST00000554411.1_5'Flank|LTB4R_ENST00000345363.3_5'Flank|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.G39G|LTB4R2_ENST00000533293.1_Silent_p.G39G|CIDEB_ENST00000555817.1_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	70					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTGGCAACGGCTTCGTGGTGT	0.726																																						uc021rrp.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(115-117)ggC>ggA		Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.							24	26	25					14																	24779987		2202	4299	6501	SO:0001819	synonymous_variant	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24779987C>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.210C>A	14.37:g.24779987C>A						CIDEB_uc001won.3_5'Flank|CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.G39G|LTB4R2_uc001wor.3_Silent_p.G39G|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	p.G39G	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	0	117	+			70					Q5KU28|Q9NPE5	Silent	SNP	ENST00000528054.1	37	c.117C>A																																																																																					0.726	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			A	24779987	C	A	24779987	2	1	254	1	0	0	0	0	0	0	0	1	9072	784	28	5		5	LTB4R2	14	24779987	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08	4019816	24779987	82569553	30	18144											
BAZ1A	11177	broad.mit.edu	37	chr14	35331298	35331298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtttcttcgacaaaatatCgatccttgacatatgcaaag	14	12	6	9	2	1	1	0	1	1	0	4	3	2	1	1	0	1	2	1	0	5	5	rs375235365		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:35331298C>T	ENST00000382422.2	-	2	671	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R115Q|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R115Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	115	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GACAAAATATCGATCCTTGAC	0.358																																						uc001wsk.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(343-345)cGa>cAa		Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150	144	146		344,344	5.4	1	14		146	0,8600		0,0,4300	no	missense,missense	BAZ1A	NM_013448.2,NM_182648.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	115/1557,115/1525	35331298	1,13005	2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331298C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.344G>A	14.37:g.35331298C>T	ENSP00000371859:p.Arg115Gln					BAZ1A_uc001wsl.3_Missense_Mutation_p.R115Q|BAZ1A_uc001wsm.1_Missense_Mutation_p.R115Q	p.R115Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	2	912	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		115			Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.344G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402083	0.96030	2.27E-4	0.0	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.75050	-0.89;-0.9;-0.9	5.4	5.4	0.78164	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.87554	0.2467	10	0.87932	D	0	.	19.547	0.95302	0.0:1.0:0.0:0.0	.	115;115	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	115	ENSP00000351555:R115Q;ENSP00000371859:R115Q;ENSP00000353458:R115Q	ENSP00000351555:R115Q	R	-	2	0	BAZ1A	34401049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.695000	0.91970	0.650000	0.86243	CGA		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			T	35331298	C	T	35331298	3	4	254	1	0	0	0	0	1	0	0	0	1329	884	31	2	4426	2	BAZ1A	14	35331298	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	10551311	35331298	72018242	31	18145											
GJD2	57369	broad.mit.edu	37	chr15	35045056	35045056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttggataatgtagaagcGggagatgccttcctgccttc	9	11	11	10	1	0	2	0	0	0	2	2	4	1	3	3	2	3	1	3	2	3	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:35045056G>A	ENST00000290374.4	-	2	1065	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	197					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGTAGAAGCGGGAGATGCCT	0.483																																						uc001zis.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(589-591)Cgc>Tgc		Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.							117	123	121					15																	35045056		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045056G>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.589C>T	15.37:g.35045056G>A	ENSP00000290374:p.Arg197Cys					AK092087_uc001zit.1_5'Flank	p.R197C	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	1	589	-		all_lung(180;9.67e-07)	197					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.589C>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937270	0.52972	.	.	ENSG00000159248	ENST00000290374	D	0.98313	-4.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	D	0.97807	0.9280	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.97087	0.9788	10	0.42905	T	0.14	.	13.9626	0.64191	0.0:0.0:0.7353:0.2647	.	197	Q9UKL4	CXD2_HUMAN	C	197	ENSP00000290374:R197C	ENSP00000290374:R197C	R	-	1	0	GJD2	32832348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.872000	0.56085	2.890000	0.99128	0.650000	0.86243	CGC		0.483	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			A	35045056	G	A	35045056	3	1	254	1	0	0	0	0	1	0	0	0	6417	1116	39	2	380	2	GJD2	15	35045056	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		35045056	67486336	32	18146											
BAHD1	22893	broad.mit.edu	37	chr15	40750942	40750942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggctgatgagctaccGcctgacctgcccaagccccc	8	6	11	16	1	0	4	0	4	0	0	0	5	0	4	6	1	4	2	6	1	2	1	rs202044593		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:40750942G>A	ENST00000416165.1	+	2	350	c.279G>A	c.(277-279)ccG>ccA	p.P93P	BAHD1_ENST00000560846.1_Silent_p.P93P|BAHD1_ENST00000561234.1_Silent_p.P93P	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	93					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATGAGCTACCGCCTGACCTGC	0.662																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(277-279)ccG>ccA		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.		G		0,4406		0,0,2203	34	38	37		279	-3.6	1	15		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAHD1	NM_014952.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		93/781	40750942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750942G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.279G>A	15.37:g.40750942G>A						BAHD1_uc001zlt.2_Silent_p.P93P|BAHD1_uc010bbp.1_Silent_p.P93P|BAHD1_uc001zlv.2_Silent_p.P93P	p.P93P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	350	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	93					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.279G>A	CCDS10058.1																																																																																				0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		A	40750942	G	A	40750942	2	1	254	1	0	0	0	0	0	0	0	1	1297	1074	38	1		1	BAHD1	15	40750942	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08	5705886	40750942	61780450	33	18147											
STRC	161497	broad.mit.edu	37	chr15	43893602	43893602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtgttacctgagtggTgctccagccatctatctgcc	9	11	10	11	0	2	1	0	1	2	0	3	2	3	1	4	1	4	2	4	1	4	2	rs141809944	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:43893602T>C	ENST00000450892.2	-	24	4770	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.T792A	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1565					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCTGAGTGGTGCTCCAGCCA	0.522																																						uc001zsf.3																			0				skin(4)	4						c.(4693-4695)Acc>Gcc		Homo sapiens stereocilin (STRC), mRNA.		A	ALA/THR	1,4399		0,1,2199	107	95	99		4693	3.4	1	15	dbSNP_134	99	0,8594		0,0,4297	no	missense	STRC	NM_153700.2	58	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign	1565/1776	43893602	1,12993	2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43893602T>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4693A>G	15.37:g.43893602T>C	ENSP00000401513:p.Thr1565Ala					STRC_uc010bdl.3_Missense_Mutation_p.T792A|STRC_uc001zse.3_Missense_Mutation_p.T83A	p.T1565A	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	23	4771	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1565						Missense_Mutation	SNP	ENST00000450892.2	37	c.4693A>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378888	0.24944	2.27E-4	0.0	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.75821	-0.96;-0.97	4.62	3.41	0.39046	.	0.494669	0.18843	N	0.129635	T	0.50650	0.1628	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	10	0.23891	T	0.37	-3.5383	3.489	0.07630	0.5537:0.0:0.0951:0.3512	.	792;1565	F5GXA4;Q7RTU9	.;STRC_HUMAN	A	1565;1565;792	ENSP00000401513:T1565A;ENSP00000440413:T792A	ENSP00000299992:T1565A	T	-	1	0	STRC	41680894	0.858000	0.29795	0.971000	0.41717	0.180000	0.23129	0.570000	0.23653	0.927000	0.37143	-0.373000	0.07131	ACC		0.522	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		C	43893602	T	C	43893602	3	2	254	1	0	0	0	0	1	0	0	0	15327	1696	59	4	658	4	STRC	15	43893602	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08	3142660	43893602	58637790	34	18148											
SEC14L5	9717	broad.mit.edu	37	chr16	5058451	5058451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatcctggaaggagagtcGgtcatcacctgggactttga	10	9	14	8	1	2	3	2	1	0	2	4	7	3	5	2	4	0	0	2	4	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr16:5058451G>A	ENST00000251170.7	+	14	1782	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	534	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAGGAGAGTCGGTCATCACCT	0.642																																						uc002cye.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1600-1602)tcG>tcA		Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.							33	39	37					16																	5058451		2063	4199	6262	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058451G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1602G>A	16.37:g.5058451G>A							p.S534S	NM_014692	NP_055507	O43304	S14L5_HUMAN			13	1782	+			534			GOLD.			Silent	SNP	ENST00000251170.7	37	c.1602G>A	CCDS45403.1																																																																																				0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			A	5058451	G	A	5058451	2	1	254	1	0	0	0	0	0	0	0	1	13985	1103	39	2		2	SEC14L5	16	5058451	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08		5058451	85296302	35	18149											
APPBP2	10513	broad.mit.edu	37	chr17	58603208	58603208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcggatgtctcggcGggagcggatgtagttgtcca	8	8	17	8	4	1	0	0	0	1	0	3	4	2	4	1	5	2	2	1	5	2	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:58603208G>A	ENST00000083182.3	-	1	372	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	RP11-15E18.1_ENST00000558027.1_RNA|RP11-15E18.1_ENST00000559739.1_RNA	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	29					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATGTCTCGGCGGGAGCGGATG	0.592																																						uc002iys.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(85-87)Cgc>Tgc		Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.							128	102	110					17																	58603208		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58603208G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.85C>T	17.37:g.58603208G>A	ENSP00000083182:p.Arg29Cys					APPBP2_uc010ddl.1_5'UTR	p.R29C	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		0	373	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		29					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.85C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987321	0.93106	.	.	ENSG00000062725	ENST00000083182	D	0.85258	-1.96	5.05	5.05	0.67936	.	0.051081	0.85682	D	0.000000	D	0.86965	0.6060	N	0.22421	0.69	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	D	0.88967	0.3398	10	0.72032	D	0.01	-0.5199	18.3509	0.90338	0.0:0.0:1.0:0.0	.	29	Q92624	APBP2_HUMAN	C	29	ENSP00000083182:R29C	ENSP00000083182:R29C	R	-	1	0	APPBP2	55957990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.110000	0.71535	2.502000	0.84385	0.591000	0.81541	CGC		0.592	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		A	58603208	G	A	58603208	3	1	254	1	0	0	0	0	1	0	0	0	816	1116	39	2	1724	2	APPBP2	17	58603208	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		58603208	22592002	36	18150											
CD300LD	100131439	broad.mit.edu	37	chr17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgggtgctcttgagcGgggacctgtgggaacacggt	7	8	19	7	2	1	1	0	1	1	0	1	4	1	4	1	6	3	1	1	6	2	1	rs201880339		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:72576247G>A	ENST00000375352.1	-	4	559	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	160					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													G|||	1	0.000199681	0	0	5008	,	,		17952	0		0.001	False		,,,				2504	0					uc002jkz.2																			0				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						c.(478-480)cCg>cTg		Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.		G	LEU/PRO	0,3136		0,0,1568	42	42	42		479	-0.4	0.3	17		42	1,7163		0,1,3581	no	missense	CD300LD	NM_001115152.1	98	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	160/195	72576247	1,10299	1568	3582	5150	SO:0001583	missense	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72576247G>A		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"Immunoglobulin superfamily / V-set domain containing"	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.479C>T	17.37:g.72576247G>A	ENSP00000364501:p.Pro160Leu						p.P160L	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN			3	508	-			160						Missense_Mutation	SNP	ENST00000375352.1	37	c.479C>T	CCDS42379.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.015	-1.547783	0.00926	0.0	1.4E-4	ENSG00000204345	ENST00000375352	T	0.03607	3.87	3.36	-0.452	0.12205	.	2.080600	0.03257	N	0.182736	T	0.00998	0.0033	N	0.00313	-1.665	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.43750	-0.9372	10	0.11182	T	0.66	.	0.7501	0.00989	0.472:0.2072:0.1202:0.2006	.	160	Q6UXZ3	CLM4_HUMAN	L	160	ENSP00000364501:P160L	ENSP00000364501:P160L	P	-	2	0	CD300LD	70087842	0.046000	0.20272	0.265000	0.24526	0.001000	0.01503	0.078000	0.14761	-0.104000	0.12154	-1.486000	0.00981	CCG		0.572	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152		A	72576247	G	A	72576247	3	1	254	1	0	0	0	0	1	0	0	0	3000	1116	39	2	109	2	CD300LD	17	72576247	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	13973039	72576247	8618963	37	18151											
SERPINB7	8710	broad.mit.edu	37	chr18	61471645	61471645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgaatccaaagcagatCtctctgggattgcttcgggg	9	12	12	8	1	2	3	0	2	2	1	5	4	3	4	1	3	2	2	1	3	2	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:61471645C>T	ENST00000398019.2	+	8	1244	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	SERPINB7_ENST00000336429.2_Missense_Mutation_p.L307F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L307F|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L290F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	307					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CAAAGCAGATCTCTCTGGGAT	0.433																																						uc002ljl.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(919-921)Ctc>Ttc		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.							47	50	49					18																	61471645		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471645C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.919C>T	18.37:g.61471645C>T	ENSP00000381101:p.Leu307Phe					SERPINB7_uc002ljm.3_Missense_Mutation_p.L307F|SERPINB7_uc010xet.2_Missense_Mutation_p.L290F|SERPINB7_uc010dqg.3_Missense_Mutation_p.L307F	p.L307F	NM_001040147	NP_003775	O75635	SPB7_HUMAN			7	1015	+		Esophageal squamous(42;0.129)	307					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.919C>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	C	8.553	0.875936	0.17395	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	6.11	4.24	0.50183	Serpin domain (3);	0.099214	0.45126	N	0.000392	T	0.76608	0.4011	N	0.26130	0.795	0.40595	D	0.981524	B;B	0.25048	0.096;0.117	B;B	0.31812	0.083;0.136	T	0.65545	-0.6142	10	0.02654	T	1	.	9.3226	0.37973	0.0:0.7439:0.0:0.2561	.	290;307	F5GZC0;O75635	.;SPB7_HUMAN	F	307;307;290;307	ENSP00000337212:L307F;ENSP00000381101:L307F;ENSP00000444572:L290F;ENSP00000444861:L307F	ENSP00000337212:L307F	L	+	1	0	SERPINB7	59622625	0.109000	0.22037	0.985000	0.45067	0.306000	0.27790	0.293000	0.19029	0.814000	0.34374	-0.137000	0.14449	CTC		0.433	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		T	61471645	C	T	61471645	3	4	254	1	0	0	0	0	1	0	0	0	14106	913	32	3	945	3	SERPINB7	18	61471645	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		61471645	16605603	38	18152											
ATP9B	374868	broad.mit.edu	37	chr18	77037059	77037059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttatttggcagtttgcGtgtgaacttggacatgggca	7	15	14	5	1	0	1	0	1	0	0	0	2	0	2	0	4	2	4	0	4	2	5	rs149013492		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:77037059G>A	ENST00000426216.2	+	13	1291	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	ATP9B_ENST00000307671.7_Missense_Mutation_p.R425H	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	425					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCAGTTTGCGTGTGAACTTG	0.493																																						uc002lmx.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(1273-1275)cGt>cAt		Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.							237	222	227					18																	77037059		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77037059G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1274G>A	18.37:g.77037059G>A	ENSP00000398076:p.Arg425His					ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.R425H|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.R119H	p.R425H	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	12	1288	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	425					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1274G>A	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127085	0.94429	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.88664	-2.41;-2.41	5.4	5.4	0.78164	ATPase, P-type, ATPase-associated domain (1);	0.098980	0.64402	D	0.000011	D	0.96062	0.8717	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96625	0.9462	10	0.87932	D	0	.	19.5384	0.95264	0.0:0.0:1.0:0.0	.	425;425	O43861;O43861-2	ATP9B_HUMAN;.	H	425	ENSP00000398076:R425H;ENSP00000304500:R425H	ENSP00000304500:R425H	R	+	2	0	ATP9B	75138047	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.053000	0.93860	2.687000	0.91594	0.655000	0.94253	CGT		0.493	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	77037059	G	A	77037059	3	1	254	1	0	0	0	0	1	0	0	0	1199	1145	40	1	1324	1	ATP9B	18	77037059	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	15565414	77037059	1040189	39	18153											
S1PR2	9294	broad.mit.edu	37	chr19	10335447	10335447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttttccaccacaatggcGcaacagaggatgacgatgaa	14	7	11	9	2	0	3	0	2	0	1	1	5	1	4	2	3	1	2	2	3	3	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:10335447G>A	ENST00000590320.1	-	2	245	c.135C>T	c.(133-135)tgC>tgT	p.C45C	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	45					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCACAATGGCGCAACAGAGGA	0.567																																					Pancreas(194;229 3020 15179 45747)	uc002mnl.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(133-135)tgC>tgT		Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.							137	130	132					19																	10335447		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335447G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.135C>T	19.37:g.10335447G>A						S1PR2_uc021uos.1_Silent_p.C45C	p.C45C	NM_004230	NP_004221	O95136	S1PR2_HUMAN			1	246	-			45					Q86UN8	Silent	SNP	ENST00000590320.1	37	c.135C>T	CCDS12229.1																																																																																				0.567	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		A	10335447	G	A	10335447	2	1	254	1	0	0	0	0	0	0	0	1	13794	1079	38	1		1	S1PR2	19	10335447	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08		10335447	48793536	40	18154											
CILP2	148113	broad.mit.edu	37	chr19	19655680	19655680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttctccgccaaccccCgtgcctggggccgctttgac	3	8	11	19	4	1	1	0	1	1	0	2	1	1	1	7	3	2	2	7	3	1	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:19655680C>T	ENST00000291495.5	+	8	2411	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	CILP2_ENST00000586018.1_Missense_Mutation_p.R782C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	776						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAACCCCCGTGCCTGGGG	0.711																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2344-2346)Cgt>Tgt		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							8	10	9					19																	19655680		1981	4104	6085	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655680C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2326C>T	19.37:g.19655680C>T	ENSP00000291495:p.Arg776Cys					CILP2_uc002nmv.4_Missense_Mutation_p.R776C	p.R782C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2429	+			776					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2344C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510535	0.64522	.	.	ENSG00000160161	ENST00000291495	T	0.18174	2.23	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.973	T	0.12811	-1.0533	10	0.87932	D	0	-22.637	10.8218	0.46610	0.189:0.811:0.0:0.0	.	776;776	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	776	ENSP00000291495:R776C	ENSP00000291495:R776C	R	+	1	0	CILP2	19516680	0.406000	0.25344	0.863000	0.33907	0.907000	0.53573	1.005000	0.29834	2.275000	0.75901	0.555000	0.69702	CGT		0.711	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19655680	C	T	19655680	3	4	254	1	0	0	0	0	1	0	0	0	3430	652	23	2	2356	2	CILP2	19	19655680	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	9320233	19655680	39473303	41	18155											
LILRA3	11026	broad.mit.edu	37	chr19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggctcacggggcccaCggagaagatggcccgggatg	8	5	17	11	3	1	2	1	0	0	2	1	4	1	3	2	6	0	1	2	6	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:54803127C>T	ENST00000251390.3	-	4	641	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRA3_ENST00000391745.1_Missense_Mutation_p.V201M|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	184	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567																																						uc002qfd.3																			1	Substitution - Missense(1)	p.V184M(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(550-552)Gtg>Atg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.							130	110	117					19																	54803127		2195	4163	6358	SO:0001583	missense	11026				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54803127C>T	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.550G>A	19.37:g.54803127C>T	ENSP00000251390:p.Val184Met					LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	p.V184M	NM_006865	NP_006856	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	642	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		183			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.550G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713240	0.30413	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00792	5.69;5.69	2.21	0.0188	0.14118	Immunoglobulin-like fold (1);	0.499376	0.16837	N	0.197508	T	0.01189	0.0039	L	0.39514	1.22	0.09310	N	1	D	0.65815	0.995	P	0.53518	0.728	T	0.52866	-0.8518	10	0.48119	T	0.1	.	4.2498	0.10689	0.0:0.6373:0.0:0.3627	.	184	Q8N6C8	LIRA3_HUMAN	M	184;201	ENSP00000251390:V184M;ENSP00000375625:V201M	ENSP00000251390:V184M	V	-	1	0	LILRA3	59494939	0.007000	0.16637	0.028000	0.17463	0.014000	0.08584	0.231000	0.17872	0.085000	0.17107	-0.236000	0.12185	GTG		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			T	54803127	C	T	54803127	3	4	254	1	0	0	0	0	1	0	0	0	8786	536	19	1	785	1	LILRA3	19	54803127	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	35147447	54803127	4325856	42	18156											
NLRP4	147945	broad.mit.edu	37	chr19	56382302	56382302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccaatgtcctgaaggacGaaggactgaaaactctctgc	12	8	11	10	1	1	2	0	2	1	0	3	5	2	4	2	2	3	0	2	2	5	0	rs140263319	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:56382302G>A	ENST00000301295.6	+	7	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E766K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E747K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	822					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGAAGGACGAAGGACTGAA	0.512													G|||	2	0.000399361	0	0	5008	,	,		20309	0.001		0	False		,,,				2504	0.001					uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2464-2466)Gaa>Aaa		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							142	123	130					19																	56382302		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382302G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2464G>A	19.37:g.56382302G>A	ENSP00000301295:p.Glu822Lys					NLRP4_uc002qmf.3_Missense_Mutation_p.E747K|NLRP4_uc010etf.3_Missense_Mutation_p.E597K	p.E822K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2886	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	822					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2464G>A	CCDS12936.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.620	0.482859	0.12581	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54675	0.56;2.5	3.75	-2.43	0.06522	.	.	.	.	.	T	0.28995	0.0720	L	0.37850	1.14	0.09310	N	1	B;P;P	0.41366	0.334;0.702;0.747	B;B;B	0.33121	0.038;0.139;0.158	T	0.22800	-1.0206	9	0.14656	T	0.56	.	3.9781	0.09483	0.4742:0.1908:0.335:0.0	.	766;747;822	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	822;766	ENSP00000301295:E822K;ENSP00000344787:E766K	ENSP00000301295:E822K	E	+	1	0	NLRP4	61074114	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.652000	0.05366	-0.205000	0.10219	-0.145000	0.13849	GAA		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56382302	G	A	56382302	3	1	254	1	0	0	0	0	1	0	0	0	10479	1059	37	2	2486	2	NLRP4	19	56382302	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	1579175	56382302	2746681	43	18157											
RBCK1	10616	broad.mit.edu	37	chr20	390566	390566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgagcagtggcgggcGgggatgaacaggtggcaatg	9	5	18	9	3	1	1	1	1	0	0	1	3	1	2	1	6	2	2	1	6	2	0	rs546711324		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr20:390566G>A	ENST00000356286.5	+	2	769	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000400245.3_3'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	22	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582													G|||	0	0	0	0	5008	,	,		17196	0		0	False		,,,				2504	0					uc002wdp.4																			0				kidney(1)|lung(4)	5						c.(64-66)Ggg>Agg		Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.							97	98	98					20																	390566		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:390566G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.64G>A	20.37:g.390566G>A	ENSP00000348632:p.Gly22Arg					RBCK1_uc010zpl.1_Missense_Mutation_p.G22R|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Intron|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Intron|RBCK1_uc002wdo.3_Non-coding_Transcript	p.G22R	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			1	757	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	22			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.64G>A	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875962	0.91664	.	.	ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000475269;ENST00000441733;ENST00000400244;ENST00000400243	T;T;T	0.61510	0.1;1.42;0.15	4.68	4.68	0.58851	.	0.066759	0.64402	D	0.000010	T	0.73377	0.3579	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.786	T	0.74870	-0.3517	10	0.51188	T	0.08	-11.713	15.14	0.72604	0.0:0.0:1.0:0.0	.	12;22	B4E0F5;Q9BYM8	.;HOIL1_HUMAN	R	22;22;22;21;22;22	ENSP00000415080:G22R;ENSP00000348632:G22R;ENSP00000387799:G21R	ENSP00000348632:G22R	G	+	1	0	RBCK1	338566	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	6.944000	0.75940	2.397000	0.81536	0.563000	0.77884	GGG		0.582	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		A	390566	G	A	390566	3	1	254	1	0	0	0	0	1	0	0	0	13107	1116	39	2	89	2	RBCK1	20	390566	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		390566	62634954	44	18158											
COL18A1	80781	broad.mit.edu	37	chr21	46897864	46897864	+	Frame_Shift_Del	DEL	A	A	-																															gggagggacggcacccctggAagggacggcgagccggtgag																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr21:46897864delA	ENST00000359759.4	+	7	2472	c.2451delA	c.(2449-2451)ggafs	p.G817fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G402fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G582fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	817	Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCACCCCTGGAAGGGACGGCG	0.726																																						uc002zhi.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1744-1746)ggafs		Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.							6	8	7					21																	46897864		1827	3979	5806	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46897864delA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2451delA	21.37:g.46897864delA	ENSP00000352798:p.Gly817fs					COL18A1_uc002zhg.3_Frame_Shift_Del_p.G402fs	p.G582fs	NM_030582	NP_085059	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	6	1767	+			817			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.1746delA																																																																																					0.726	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			-	46897864	A	-	46897864	7	5	254	1	0	1	0	1	0	0	0	0	3675	233	9	0	2591	0	COL18A1	21	46897864	Frame_Shift_Del	DEL	A	TCGA-74-6577-01A-11D-1845-08		46897864	1232031	45	18159											
FAM47C	442444	broad.mit.edu	37	chrX	37027712	37027712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggagcctcccaagactcGcatatctaatctccgctcgg	8	8	8	17	4	2	1	0	0	2	1	6	2	3	2	4	2	1	2	4	2	3	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:37027712G>A	ENST00000358047.3	+	1	1281	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	410								p.R410L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGCATATCTAAT	0.607																																						uc004ddl.2																			2	Substitution - Missense(2)	p.R410L(3)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1228-1230)cGc>cAc		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							54	55	54					X																	37027712		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027712G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1229G>A	X.37:g.37027712G>A	ENSP00000367913:p.Arg410His						p.R410H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	1281	+			410					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1229G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	7.442	0.640914	0.14386	.	.	ENSG00000198173	ENST00000358047	T	0.16196	2.36	0.53	-1.06	0.10002	.	.	.	.	.	T	0.23451	0.0567	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.15694	-1.0428	9	0.44086	T	0.13	.	3.6538	0.08213	0.2398:0.5076:0.2526:0.0	.	410	Q5HY64	FA47C_HUMAN	H	410	ENSP00000367913:R410H	ENSP00000367913:R410H	R	+	2	0	FAM47C	36937633	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.908000	0.04063	-1.346000	0.02211	-1.101000	0.02118	CGC		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37027712	G	A	37027712	3	1	254	1	0	0	0	0	1	0	0	0	5571	1087	38	1	1231	1	FAM47C	23	37027712	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		37027712	118242848	46	18160											
DDX3X	1654	broad.mit.edu	37	chrX	41206682	41206683	+	In_Frame_Ins	INS	-	-	AGC																															gtggcggaggtggccacggtINSagcagcagaggatttggtgg																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:41206682_41206683insAGC	ENST00000399959.2	+	16	2742_2743	c.1887_1888insAGC	c.(1888-1890)agc>AGCagc	p.630_630S>SS	DDX3X_ENST00000457138.2_In_Frame_Ins_p.614_614S>SS|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	630	Gly/Ser-rich.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gtggccacggtagcagcagAGG	0.505										HNSCC(61;0.18)																												uc004dfe.3																			0		p.R632I(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1885-1890)insAGC		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41206682_41206683insAGC	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1891_1893dupAGC	X.37:g.41206686_41206688dupAGC	ENSP00000382840:p.Ser631dup	HNSCC(61;0.18)				DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_In_Frame_Ins_p.630_631insS|DDX3X_uc011mkq.2_In_Frame_Ins_p.615_616insS|DDX3X_uc011mkr.2_In_Frame_Ins_p.501_502insS|DDX3X_uc004dfg.3_Non-coding_Transcript	p.631_632insS	NM_001356	NP_001347	O00571	DDX3X_HUMAN			15	2742_2743	+			631			Gly/Ser-rich.		A8K538|B4E3E8|O15536	In_Frame_Ins	INS	ENST00000399959.2	37	c.1887_1888insAGC	CCDS43931.1																																																																																				0.505	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		AGC	41206683	-	AGC	41206682	7	5	254	1	0	1	1	0	0	0	0	0	4358	1625	57	0	1949	0	DDX3X	23	41206682	In_Frame_Ins	INS	-	TCGA-74-6577-01A-11D-1845-08	4178970	41206682	114063878	47	18161											
STAG2	10735	broad.mit.edu	37	chrX	123197784	123197784	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcatgttctaaaacttaCcatgcactctgtaatgaaga	15	11	7	8	0	2	2	0	1	2	1	2	3	2	2	1	0	4	4	1	0	6	4			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:123197784C>G	ENST00000371160.1	+	20	2198	c.1908C>G	c.(1906-1908)taC>taG	p.Y636*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.Y636*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Y636*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Y567*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Y636*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Y636*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	636					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTAAAACTTACCATGCACTCT	0.363																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(1906-1908)taC>taG		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							91	77	82					X																	123197784		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197784C>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1908C>G	X.37:g.123197784C>G	ENSP00000360202:p.Tyr636*					STAG2_uc004etz.4_Nonsense_Mutation_p.Y636*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y636*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y636*	p.Y636*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			19	2312	+			636					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1908C>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870910	0.97901	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.19	-3.45	0.04781	.	0.063287	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-11.221	14.4417	0.67323	0.0:0.8136:0.0:0.1864	.	.	.	.	X	636;567;636;636;636;636	.	ENSP00000218089:Y636X	Y	+	3	2	STAG2	123025465	0.865000	0.29922	0.964000	0.40570	0.997000	0.91878	0.040000	0.13905	-0.784000	0.04528	0.544000	0.68410	TAC		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		G	123197784	C	G	123197784	4	3	254	1	0	0	0	0	0	1	0	0	15242	518	18	5	1978	5	STAG2	23	123197784	Nonsense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	81991102	123197784	32072776	48	18162											
FRMD7	90167	broad.mit.edu	37	chrX	131216403	131216403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattacctatagcggaaaCtggaacccttgctgcagagt	12	11	9	9	1	0	1	0	0	0	1	0	3	0	3	2	2	6	2	2	2	6	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:131216403C>A	ENST00000298542.4	-	9	1068	c.893G>T	c.(892-894)aGt>aTt	p.S298I	FRMD7_ENST00000370879.1_Missense_Mutation_p.S178I|FRMD7_ENST00000464296.1_Missense_Mutation_p.S283I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	298					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCGGAAACTGGAACCCTT	0.448																																						uc004ewn.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(892-894)aGt>aTt		Homo sapiens FERM domain containing 7 (FRMD7), mRNA.							297	291	293					X																	131216403		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131216403C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.893G>T	X.37:g.131216403C>A	ENSP00000298542:p.Ser298Ile					FRMD7_uc022cdy.1_Missense_Mutation_p.S178I|FRMD7_uc011muy.2_Missense_Mutation_p.S283I	p.S298I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			8	1071	-	Acute lymphoblastic leukemia(192;0.000127)		298					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.893G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571251	0.65765	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87729	-2.29;-2.29;-2.29	5.39	5.39	0.77823	FERM adjacent (FA) (1);	0.094087	0.64402	D	0.000001	D	0.92446	0.7602	M	0.78049	2.395	0.47407	D	0.999412	D;D	0.89917	0.999;1.0	D;D	0.77557	0.974;0.99	D	0.92842	0.6289	10	0.72032	D	0.01	.	10.9329	0.47228	0.0:0.9124:0.0:0.0876	.	283;298	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	I	178;298;283	ENSP00000359916:S178I;ENSP00000298542:S298I;ENSP00000417996:S283I	ENSP00000298542:S298I	S	-	2	0	FRMD7	131044084	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.226000	0.51254	2.392000	0.81423	0.600000	0.82982	AGT		0.448	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		A	131216403	C	A	131216403	3	1	254	1	0	0	0	0	1	0	0	0	6055	565	20	5	1267	5	FRMD7	23	131216403	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	8018619	131216403	24054157	49	18163											
KIAA1751	85452	broad.mit.edu	37	chr1	1900265	1900265	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgagcttctgctcctcctCaaaggccctgcgtggagtcg	5	11	11	14	2	3	1	1	1	2	0	6	2	5	2	3	2	3	2	3	2	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:1900265C>G								TMEM52 (49553 upstream) : C1orf222 (19297 downstream)																							TGCTCCTCCTCAAAGGCCCTG	0.597																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1054-1056)Gag>Cag		Homo sapiens KIAA1751 (KIAA1751), mRNA.							91	94	93					1																	1900265		2011	4178	6189	SO:0001628	intergenic_variant	85452							g.chr1:1900265C>G																													1.37:g.1900265C>G						KIAA1751_uc009vkz.1_Missense_Mutation_p.E352Q	p.E352Q	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1210	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	352						Missense_Mutation	SNP		37	c.1054G>C		.	.	.	.	.	.	.	.	.	.	c	16.45	3.125475	0.56721	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.67	1.7	0.24286	.	0.787356	0.11081	N	0.601867	T	0.66723	0.2818	M	0.68952	2.095	0.80722	D	1	D;D	0.59767	0.986;0.972	P;P	0.60886	0.88;0.797	T	0.60311	-0.7288	9	0.37606	T	0.19	-18.4903	7.1595	0.25657	0.0:0.722:0.1739:0.1041	.	352;352	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	Q	352	.	ENSP00000270720:E352Q	E	-	1	0	C1orf222	1890125	0.746000	0.28272	0.864000	0.33941	0.855000	0.48748	0.450000	0.21762	0.292000	0.22492	0.556000	0.70494	GAG	0	0.597									G	1900265	C	G	1900265	1	3	255	0	1	0	0	0	0	0	0	0	8256	835	29	5		5	KIAA1751	1	1900265	IGR	SNP	C	TCGA-74-6578-01A-11D-1845-08		1900265	247350356	1	18164											
MMEL1	79258	broad.mit.edu	37	chr1	2527458	2527458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacataccttctcctgcGccttcttcttggactcctcg	5	13	6	17	2	3	0	0	0	3	0	6	1	4	1	5	1	3	0	5	1	1	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:2527458G>A	ENST00000378412.3	-	15	1651	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	MMEL1_ENST00000288709.6_Missense_Mutation_p.A488V|MMEL1_ENST00000502556.1_Missense_Mutation_p.A340V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	497						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTTCTCCTGCGCCTTCTTCTT	0.632																																						uc001ajy.2																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1489-1491)gCg>gTg		Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.							221	180	194					1																	2527458		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2527458G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1490C>T	1.37:g.2527458G>A	ENSP00000367668:p.Ala497Val					MMEL1_uc009vlg.1_Non-coding_Transcript	p.A497V	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	14	1704	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	497					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1490C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621321	0.87460	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83837	-1.77;-1.77;-1.77	5.25	5.25	0.73442	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.94227	0.7473	10	0.87932	D	0	-34.9491	17.7647	0.88475	0.0:0.0:1.0:0.0	.	497	Q495T6	MMEL1_HUMAN	V	340;488;497;340	ENSP00000288709:A488V;ENSP00000367668:A497V;ENSP00000422492:A340V	ENSP00000288709:A488V	A	-	2	0	MMEL1	2517318	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.481000	0.97933	2.606000	0.88127	0.655000	0.94253	GCG		0.632	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2527458	G	A	2527458	3	1	255	1	0	0	0	0	1	0	0	0	9646	1087	38	1	889	1	MMEL1	1	2527458	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	627193	2527458	246723163	2	18165											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809060	18809060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcatgccccccgaggccGtgtcccggggctgtgccatc	3	7	13	18	4	0	0	0	0	0	0	3	1	1	0	6	3	2	2	6	3	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:18809060G>A	ENST00000400664.1	+	1	1637	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	529						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGAGGCCGTGTCCCGGGG	0.662																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1585-1587)Gtg>Atg		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							37	46	43					1																	18809060		2195	4288	6483	SO:0001583	missense	127707					integral to membrane		g.chr1:18809060G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1585G>A	1.37:g.18809060G>A	ENSP00000383505:p.Val529Met					KLHDC7A_uc009vpg.3_Missense_Mutation_p.V311M	p.V529M	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	1637	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	529					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1585G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694031	0.30052	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.66460	-0.21	5.41	3.16	0.36331	Kelch-type beta propeller (1);	0.239529	0.33772	N	0.004578	T	0.43875	0.1267	N	0.17082	0.46	0.22796	N	0.998722	P;P	0.37731	0.607;0.607	B;B	0.28991	0.097;0.066	T	0.33214	-0.9877	10	0.35671	T	0.21	.	11.1935	0.48698	0.1859:0.0:0.8141:0.0	.	466;529	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	M	529;466	ENSP00000383505:V529M	ENSP00000383505:V529M	V	+	1	0	KLHDC7A	18681647	0.681000	0.27614	0.939000	0.37840	0.974000	0.67602	1.109000	0.31135	1.251000	0.43983	0.561000	0.74099	GTG		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18809060	G	A	18809060	3	1	255	1	0	0	0	0	1	0	0	0	8360	1145	40	1	1587	1	KLHDC7A	1	18809060	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	16281602	18809060	230441561	3	18166											
TXLNA	200081	broad.mit.edu	37	chr1	32650218	32650218	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagaagtatgctgaactgGtcagttcccccctccgcggg	8	8	12	13	2	1	2	1	1	0	1	3	2	3	2	4	2	2	4	4	2	4	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:32650218G>A	ENST00000373609.1	+	3	878		c.e3+1		TXLNA_ENST00000373610.3_Splice_Site			P40222	TXLNA_HUMAN	taxilin alpha						B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCTGAACTGGTCAGTTCCCC	0.537																																						uc001bui.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.e4+1		Homo sapiens taxilin alpha (TXLNA), mRNA.							128	119	122					1																	32650218		2203	4300	6503	SO:0001630	splice_region_variant	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32650218G>A	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.597+1G>A	1.37:g.32650218G>A						TXLNA_uc001buj.3_Splice_Site_p.L199_splice	p.L199_splice	NM_175852	NP_787048	P40222	TXLNA_HUMAN			4	662	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	199					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Splice_Site	SNP	ENST00000373609.1	37	c.597_splice	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053540	0.93793	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6348	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TXLNA	32422805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.829000	0.99411	2.777000	0.95525	0.579000	0.79373	.		0.537	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852	Intron	A	32650218	G	A	32650218	5	1	255	1	0	0	0	0	0	0	1	0	16784	1275	44	3	608	3	TXLNA	1	32650218	Splice_Site	SNP	G	TCGA-74-6578-01A-11D-1845-08	13841158	32650218	216600403	4	18167											
EPHA10	284656	broad.mit.edu	37	chr1	38227170	38227170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgccgcagtgcatgcGtggggggctgccaggctccc	3	6	18	14	4	0	0	0	0	0	0	2	0	1	0	3	5	3	4	3	5	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:38227170G>A	ENST00000373048.4	-	3	756	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R253C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R253C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	253					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTGCATGCGTGGGGGGCTG	0.692																																						uc009vvi.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(757-759)Cgc>Tgc		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							20	22	21					1																	38227170		2186	4256	6442	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227170G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.757C>T	1.37:g.38227170G>A	ENSP00000362139:p.Arg253Cys					EPHA10_uc001cbw.4_Missense_Mutation_p.R253C	p.R253C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	843	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	253					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.757C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102161	0.76983	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.77098	-1.07;-1.06;4.32	4.4	4.4	0.53042	.	0.000000	0.42294	D	0.000722	D	0.88764	0.6525	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.973	D	0.90855	0.4734	10	0.87932	D	0	.	16.4796	0.84155	0.0:0.0:1.0:0.0	.	253;253	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	253	ENSP00000397746:R253C;ENSP00000362139:R253C;ENSP00000316395:R253C	ENSP00000316395:R253C	R	-	1	0	EPHA10	37999757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.358000	0.66064	2.411000	0.81874	0.551000	0.68910	CGC		0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38227170	G	A	38227170	3	1	255	1	0	0	0	0	1	0	0	0	5166	1145	40	1	2367	1	EPHA10	1	38227170	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	5576952	38227170	211023451	5	18168											
MACF1	23499	broad.mit.edu	37	chr1	39913453	39913453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttccttagccaaaagcaGgatgttgttctgatcaagaa	14	11	9	7	0	2	2	1	1	1	1	3	3	3	3	2	1	2	4	2	1	6	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:39913453G>A	ENST00000372915.3	+	81	19635	c.19548G>A	c.(19546-19548)caG>caA	p.Q6516Q	MACF1_ENST00000361689.2_Silent_p.Q4558Q|MACF1_ENST00000567887.1_Silent_p.Q6654Q|MACF1_ENST00000539005.1_Silent_p.Q4428Q|MACF1_ENST00000564288.1_Silent_p.Q6617Q|MACF1_ENST00000317713.7_Silent_p.Q4558Q|MACF1_ENST00000545844.1_Silent_p.Q4558Q|MACF1_ENST00000289893.4_Silent_p.Q5060Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6516					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAAAAGCAGGATGTTGTTC	0.438																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15178-15180)caG>caA		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							120	117	118					1																	39913453		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39913453G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19548G>A	1.37:g.39913453G>A						MACF1_uc021ols.1_Silent_p.Q4555Q|MACF1_uc021olt.1_Silent_p.Q4558Q	p.Q5060Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		46	15180	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6626					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.15180G>A		.	.	.	.	.	.	.	.	.	.	G	7.923	0.738916	0.15642	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.08	4.21	0.49690	.	.	.	.	.	T	0.60741	0.2292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59080	-0.7521	4	.	.	.	.	10.2784	0.43523	0.2561:0.0:0.7439:0.0	.	.	.	.	R	3562	.	.	G	+	1	0	MACF1	39686040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.892000	0.39748	1.594000	0.50039	0.655000	0.94253	GGA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39913453	G	A	39913453	2	1	255	1	0	0	0	0	0	0	0	1	9144	991	35	3		3	MACF1	1	39913453	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	1686283	39913453	209337168	6	18169											
SPAG17	200162	broad.mit.edu	37	chr1	118548128	118548128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctcgcagctgctcacgcTtttgaaaaggatagtatata	12	11	9	9	2	1	1	1	1	0	0	2	2	1	2	0	1	3	6	0	1	6	6			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:118548128T>C	ENST00000336338.5	-	32	4750	c.4685A>G	c.(4684-4686)aAg>aGg	p.K1562R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1562						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K1562R(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCACGCTTTTGAAAAGG	0.448																																						uc001ehk.2																			1	Substitution - Missense(1)	p.K1562R(2)	lung(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4684-4686)aAg>aGg		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							121	117	119					1																	118548128		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548128T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4685A>G	1.37:g.118548128T>C	ENSP00000337804:p.Lys1562Arg					SPAG17_uc021osr.1_Missense_Mutation_p.K72R	p.K1562R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4753	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1562					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4685A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502968	0.26949	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19806	2.12	5.72	3.37	0.38596	.	0.569182	0.19678	N	0.108579	T	0.05960	0.0155	L	0.41236	1.265	0.09310	N	1	B	0.28850	0.225	B	0.28849	0.095	T	0.23726	-1.0180	10	0.56958	D	0.05	.	4.2127	0.10519	0.1543:0.1525:0.0:0.6933	.	1562	Q6Q759	SPG17_HUMAN	R	1562;42	ENSP00000337804:K1562R	ENSP00000337804:K1562R	K	-	2	0	SPAG17	118349651	0.002000	0.14202	0.784000	0.31847	0.204000	0.24138	0.971000	0.29396	0.952000	0.37798	0.533000	0.62120	AAG		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		C	118548128	T	C	118548128	3	2	255	1	0	0	0	0	1	0	0	0	14979	1609	56	4	2054	4	SPAG17	1	118548128	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	78634675	118548128	130702493	7	18170											
HAO2	51179	broad.mit.edu	37	chr1	119925581	119925581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagagatgtgtctgaggtgGacaccagaaccacaatccaa	14	7	11	9	0	1	4	0	2	1	2	2	6	2	5	3	2	1	0	3	2	3	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:119925581G>T	ENST00000325945.3	+	3	248	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	HAO2_ENST00000361035.4_Missense_Mutation_p.D72Y	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	59	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTCTGAGGTGGACACCAGAAC	0.552																																						uc001ehr.1																			0		p.V58V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(175-177)Gac>Tac		Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.							117	91	100					1																	119925581		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119925581G>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.175G>T	1.37:g.119925581G>T	ENSP00000316339:p.Asp59Tyr					HAO2_uc001ehq.1_Missense_Mutation_p.D59Y	p.D59Y	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	2	307	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	59			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.175G>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447580	0.84101	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.39997	1.05;1.05;1.05	5.64	5.64	0.86602	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82816	-0.0270	9	.	.	.	-27.7396	13.9224	0.63940	0.0726:0.0:0.9274:0.0	.	59	Q9NYQ3	HAOX2_HUMAN	Y	59;72;59	ENSP00000393955:D59Y;ENSP00000354314:D72Y;ENSP00000316339:D59Y	.	D	+	1	0	HAO2	119727104	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.486000	0.81215	2.660000	0.90430	0.655000	0.94253	GAC		0.552	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		T	119925581	G	T	119925581	3	4	255	1	0	0	0	0	1	0	0	0	6952	1174	41	5	181	5	HAO2	1	119925581	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1377453	119925581	129325040	8	18171											
ZNF697	90874	broad.mit.edu	37	chr1	120165681	120165681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcacccgagtgcgtgcGcttgtgcgtgaagaggtgcg	5	8	16	12	6	1	2	1	1	0	1	1	3	1	2	2	1	4	2	2	1	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120165681G>A	ENST00000421812.2	-	3	1404	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAGTGCGTGCGCTTGTGCGTG	0.667																																						uc001ehy.1																			0				ovary(2)	2						c.(1285-1287)Cgc>Tgc		Homo sapiens zinc finger protein 697 (ZNF697), mRNA.							15	17	16					1																	120165681		2191	4292	6483	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165681G>A	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1285C>T	1.37:g.120165681G>A	ENSP00000396857:p.Arg429Cys						p.R429C	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	2	1399	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	429					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1285C>T	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041284	0.35989	.	.	ENSG00000143067	ENST00000421812	T	0.25749	1.78	4.98	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002276	T	0.48732	0.1516	M	0.91140	3.18	0.50039	D	0.999843	D	0.89917	1.0	D	0.79784	0.993	T	0.62402	-0.6862	10	0.87932	D	0	-24.5497	12.7507	0.57306	0.0:0.0:0.8342:0.1658	.	429	Q5TEC3	ZN697_HUMAN	C	429	ENSP00000396857:R429C	ENSP00000396857:R429C	R	-	1	0	ZNF697	119967204	0.671000	0.27521	1.000000	0.80357	0.031000	0.12232	2.165000	0.42396	1.228000	0.43614	-0.311000	0.09066	CGC		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		A	120165681	G	A	120165681	3	1	255	1	0	0	0	0	1	0	0	0	18097	1087	38	1	356	1	ZNF697	1	120165681	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	240100	120165681	129084940	9	18172											
NOTCH2	4853	broad.mit.edu	37	chr1	120512133	120512133	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccgtccttctgctacctaCctgccttcccctctgggcac	4	12	6	19	1	2	0	0	0	2	0	5	0	5	0	7	1	4	2	7	1	2	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120512133C>T	ENST00000256646.2	-	6	1328		c.e6+1			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTACCTACCTGCCTTCCC	0.537			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.e6+1		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							80	58	66					1																	120512133		2203	4300	6503	SO:0001630	splice_region_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512133C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1108+1G>A	1.37:g.120512133C>T						NOTCH2_uc001eil.3_Splice_Site_p.G370_splice|NOTCH2_uc021osy.1_Splice_Site_p.G331_splice|NOTCH2_uc001eim.4_Splice_Site_p.G287_splice	p.G370_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1405	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	370			EGF-like 9; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	ENST00000256646.2	37	c.1108_splice	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026754	0.93518	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8677	0.92300	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120313656	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.487000	0.81328	2.703000	0.92315	0.650000	0.86243	.		0.537	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	Intron	T	120512133	C	T	120512133	5	4	255	1	0	0	0	0	0	0	1	0	10548	521	18	3	6422	3	NOTCH2	1	120512133	Splice_Site	SNP	C	TCGA-74-6578-01A-11D-1845-08	346452	120512133	128738488	10	18173											
BCL9	607	broad.mit.edu	37	chr1	147091673	147091673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgcaggcatgataaactCtgaaatggaagggccgaatg	14	9	12	6	1	1	2	0	2	1	0	1	4	1	3	1	3	2	2	1	3	5	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:147091673C>G	ENST00000234739.3	+	8	2452	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	571	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S571F(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGATAAACTCTGAAATGGAA	0.547			T	"IGH@, IGL@"	B-ALL																																	uc001epq.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		1	Substitution - Missense(1)	p.S571F(1)	skin(1)	breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1711-1713)tCt>tGt		Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.							77	84	82					1																	147091673		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091673C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1712C>G	1.37:g.147091673C>G	ENSP00000234739:p.Ser571Cys					BCL9_uc010ozr.1_Missense_Mutation_p.S497C	p.S571C	NM_004326	NP_004317	O00512	BCL9_HUMAN			7	2452	+	all_hematologic(923;0.115)		571			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1712C>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123536	0.37436	.	.	ENSG00000116128	ENST00000234739	T	0.49139	0.79	5.41	5.41	0.78517	.	0.050384	0.85682	D	0.000000	T	0.23846	0.0577	N	0.14661	0.345	0.41118	D	0.985798	P;P	0.51653	0.947;0.947	B;B	0.40101	0.319;0.319	T	0.13899	-1.0492	10	0.62326	D	0.03	-17.3139	19.3785	0.94521	0.0:1.0:0.0:0.0	.	571;571	Q1JQ81;O00512	.;BCL9_HUMAN	C	571	ENSP00000234739:S571C	ENSP00000234739:S571C	S	+	2	0	BCL9	145558297	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	5.750000	0.68712	2.815000	0.96918	0.561000	0.74099	TCT		0.547	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		G	147091673	C	G	147091673	3	3	255	1	0	0	0	0	1	0	0	0	1381	913	32	5	1730	5	BCL9	1	147091673	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	26579540	147091673	102158948	11	18174											
HRNR	388697	broad.mit.edu	37	chr1	152193180	152193180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggacccatgtcggacgtGgctaggagactggcgagatc	9	6	15	11	4	0	2	0	0	0	2	2	6	0	4	2	5	0	1	2	5	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:152193180G>A	ENST00000368801.2	-	3	1000	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	309					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACGTGGCTAGGAGAC	0.602																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(925-927)Cac>Tac		Homo sapiens hornerin (HRNR), mRNA.							104	111	109					1																	152193180		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193180G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.925C>T	1.37:g.152193180G>A	ENSP00000357791:p.His309Tyr						p.H309Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1001	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		309					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.925C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	7.497	0.651953	0.14516	.	.	ENSG00000197915	ENST00000368801	T	0.01599	4.74	3.4	-3.5	0.04710	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43015	-0.9417	9	0.33141	T	0.24	.	1.2105	0.01904	0.3142:0.1451:0.393:0.1478	.	309	Q86YZ3	HORN_HUMAN	Y	309	ENSP00000357791:H309Y	ENSP00000357791:H309Y	H	-	1	0	HRNR	150459804	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.902000	0.00703	-0.898000	0.03906	0.543000	0.68304	CAC		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152193180	G	A	152193180	3	1	255	1	0	0	0	0	1	0	0	0	7359	1348	47	3	7631	3	HRNR	1	152193180	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	5101507	152193180	97057441	12	18175											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987218	154987218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgcctcaatgagcagCgccagctgggccacctatgt	8	8	12	13	1	1	2	1	2	0	0	1	2	1	2	4	1	5	3	4	1	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:154987218C>T	ENST00000368426.3	+	3	219	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R62C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R28C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R28C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	28					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAATGAGCAGCGCCAGCTGGG	0.592																																						uc001fgj.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(184-186)Cgc>Tgc		Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.							61	63	63					1																	154987218		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987218C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.82C>T	1.37:g.154987218C>T	ENSP00000357411:p.Arg28Cys					ZBTB7B_uc009wpa.3_Missense_Mutation_p.R28C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R28C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R62C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R28C	p.R62C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	469	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		28			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.184C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585532	0.66105	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	3.59	3.59	0.41128	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	D	0.84570	0.5501	M	0.93550	3.43	0.50467	D	0.999875	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88340	0.2974	10	0.87932	D	0	.	12.7145	0.57107	0.0:1.0:0.0:0.0	.	28;28;62	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	28;28;62;28	ENSP00000438647:R28C;ENSP00000357411:R28C;ENSP00000406286:R62C;ENSP00000292176:R28C	ENSP00000292176:R28C	R	+	1	0	ZBTB7B	153253842	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.340000	0.19892	1.827000	0.53221	0.462000	0.41574	CGC		0.592	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		T	154987218	C	T	154987218	3	4	255	1	0	0	0	0	1	0	0	0	17551	768	27	1	84	1	ZBTB7B	1	154987218	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	2794038	154987218	94263403	13	18176											
FAM78B	149297	broad.mit.edu	37	chr1	166039701	166039701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcatcctccacttgatgGtctgcagaatgatcttctcc	7	13	6	15	0	4	3	1	2	3	1	7	3	6	3	4	1	1	1	4	1	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:166039701G>A	ENST00000338353.3	-	3	1152	c.563C>T	c.(562-564)aCc>aTc	p.T188I	FAM78B_ENST00000354422.3_Missense_Mutation_p.T188I			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	188										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCACTTGATGGTCTGCAGAAT	0.572																																						uc021pef.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(562-564)aCc>aTc		Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.							203	181	188					1																	166039701		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039701G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.563C>T	1.37:g.166039701G>A	ENSP00000339681:p.Thr188Ile					FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	p.T188I	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			1	1036	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		188					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.563C>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325767	0.81580	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.74881	2.28	0.51012	D	0.999909	D	0.76494	0.999	D	0.78314	0.991	T	0.77968	-0.2388	8	0.87932	D	0	-0.8519	17.5764	0.87950	0.0:0.0:1.0:0.0	.	188	Q5VT40	FA78B_HUMAN	I	188	.	ENSP00000339681:T188I	T	-	2	0	FAM78B	164306325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.746000	0.94184	0.655000	0.94253	ACC		0.572	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		A	166039701	G	A	166039701	3	1	255	1	0	0	0	0	1	0	0	0	5627	1261	44	3	226	3	FAM78B	1	166039701	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	11052483	166039701	83210920	14	18177											
URB2	9816	broad.mit.edu	37	chr1	229772130	229772130	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcccttctcccggacacCccaggcccagagccagagct	7	5	10	19	1	1	2	0	0	1	2	2	3	1	3	6	3	2	1	6	3	0	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:229772130C>A	ENST00000258243.2	+	4	1906	c.1770C>A	c.(1768-1770)acC>acA	p.T590T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	590						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCCGGACACCCCAGGCCCAG	0.597																																						uc001hts.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1768-1770)acC>acA		Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.							100	105	103					1																	229772130		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229772130C>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1770C>A	1.37:g.229772130C>A						URB2_uc009xfd.1_Silent_p.T590T	p.T590T	NM_014777	NP_055592	Q14146	URB2_HUMAN			3	1906	+			590					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.1770C>A	CCDS31052.1																																																																																				0.597	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		A	229772130	C	A	229772130	2	1	255	1	0	0	0	0	0	0	0	1	17022	610	22	5		5	URB2	1	229772130	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	63732429	229772130	19478491	15	18178											
PNPT1	87178	broad.mit.edu	37	chr2	55874482	55874482	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccgagaatatacttgcCaaaatatctgtcagcaaacg	17	8	7	9	2	2	1	1	0	1	1	2	3	2	1	2	0	5	1	2	0	8	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:55874482C>G	ENST00000447944.2	-	19	1688	c.1602G>C	c.(1600-1602)ttG>ttC	p.L534F		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	534					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATATACTTGCCAAAATATCTG	0.308																																						uc002rzf.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.e19+1		Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.							78	81	80					2																	55874482		2203	4300	6503	SO:0001630	splice_region_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55874482C>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1602+1G>C	2.37:g.55874482C>G							p.L534_splice	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		19	1655	-			534					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1602_splice	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669300	0.88348	.	.	ENSG00000138035	ENST00000447944	T	0.43294	0.95	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.64402	D	0.000001	T	0.77322	0.4113	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83824	0.0248	10	0.62326	D	0.03	-10.5607	19.831	0.96636	0.0:1.0:0.0:0.0	.	534	Q8TCS8	PNPT1_HUMAN	F	534	ENSP00000400646:L534F	ENSP00000386075:L534F	L	-	3	2	PNPT1	55727986	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.073000	0.64395	2.755000	0.94549	0.563000	0.77884	TTG		0.308	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	Missense_Mutation	G	55874482	C	G	55874482	5	3	255	1	0	0	0	0	0	0	1	0	12173	608	21	5	789	5	PNPT1	2	55874482	Splice_Site	SNP	C	TCGA-74-6578-01A-11D-1845-08		55874482	187324891	16	18179											
SLC5A7	60482	broad.mit.edu	37	chr2	108625088	108625088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattcttccatcttgtcaGcaagttccatgtttgcacgg	8	14	8	11	1	3	1	1	0	2	1	5	1	5	1	2	1	2	4	2	1	1	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:108625088G>A	ENST00000264047.2	+	8	1339	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A250T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A355T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	355					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATCTTGTCAGCAAGTTCCAT	0.413																																						uc002tdv.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1063-1065)Gca>Aca		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						155	133	140					2																	108625088		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108625088G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1063G>A	2.37:g.108625088G>A	ENSP00000264047:p.Ala355Thr					SLC5A7_uc010ywm.2_Missense_Mutation_p.A108T|SLC5A7_uc010fjj.3_Missense_Mutation_p.A355T|SLC5A7_uc010ywn.2_Missense_Mutation_p.A242T	p.A355T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			7	1339	+			355					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1063G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	36	5.728298	0.96856	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.90197	-2.63;-2.63;-2.63	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.74467	2.265	0.80722	D	1	P	0.45474	0.859	P	0.54706	0.759	D	0.91980	0.5594	10	0.30078	T	0.28	-18.7939	19.8024	0.96513	0.0:0.0:1.0:0.0	.	355	Q9GZV3	SC5A7_HUMAN	T	355;250;355	ENSP00000387346:A355T;ENSP00000445351:A250T;ENSP00000264047:A355T	ENSP00000264047:A355T	A	+	1	0	SLC5A7	107991520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GCA		0.413	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108625088	G	A	108625088	3	1	255	1	0	0	0	0	1	0	0	0	14670	971	34	3	1089	3	SLC5A7	2	108625088	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	52750606	108625088	134574285	17	18180											
CKAP2L	150468	broad.mit.edu	37	chr2	113504041	113504041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatagcccaataacatCaaaggtgcctttacttgcca	13	12	5	11	0	2	0	2	0	0	0	2	0	2	0	3	1	5	0	3	1	6	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:113504041C>A	ENST00000302450.6	-	6	1792	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	CKAP2L_ENST00000541405.1_Missense_Mutation_p.D407Y	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	572						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CCAATAACATCAAAGGTGCCT	0.373																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1714-1716)Gat>Tat		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							184	180	181					2																	113504041		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113504041C>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1714G>T	2.37:g.113504041C>A	ENSP00000305204:p.Asp572Tyr					CKAP2L_uc002tif.2_Missense_Mutation_p.D161Y|CKAP2L_uc010yxp.1_Missense_Mutation_p.D407Y	p.D572Y	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			5	1793	-			572					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1714G>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209907	0.79240	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.26067	1.76;1.76	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.77103	2.36	0.43808	D	0.996361	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.55648	-0.8108	10	0.87932	D	0	-24.2067	18.0409	0.89318	0.0:1.0:0.0:0.0	.	161;572	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	Y	407;572	ENSP00000438763:D407Y;ENSP00000305204:D572Y	ENSP00000305204:D572Y	D	-	1	0	CKAP2L	113220512	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.682000	0.61671	2.850000	0.98022	0.650000	0.86243	GAT		0.373	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		A	113504041	C	A	113504041	3	1	255	1	0	0	0	0	1	0	0	0	3443	826	29	5	539	5	CKAP2L	2	113504041	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	4878953	113504041	129695332	18	18181											
ABCB11	8647	broad.mit.edu	37	chr2	169791877	169791877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagtgcttcaatgaacCgcctctcctttccaattcca	9	13	4	15	1	3	1	2	1	2	0	7	1	5	1	5	0	2	1	5	0	4	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:169791877C>T	ENST00000263817.6	-	23	2997	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q. {ECO:0000269|PubMed:16763017}.		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCAATGAACCGCCTCTCCTT	0.448																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2872-2874)cGg>cAg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						141	136	138					2																	169791877		1892	4120	6012	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791877C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2873G>A	2.37:g.169791877C>T	ENSP00000263817:p.Arg958Gln					ABCB11_uc010zda.1_Missense_Mutation_p.R400Q|ABCB11_uc010zdb.1_Missense_Mutation_p.R434Q	p.R958Q	NM_003742	NP_003733	O95342	ABCBB_HUMAN			22	2999	-			958		R -> Q.	ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2873G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331052	0.24167	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.68	-0.235	0.13071	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.717000	0.02838	N	0.127650	T	0.78097	0.4230	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.62651	-0.6809	10	0.30078	T	0.28	.	2.626	0.04929	0.097:0.2325:0.1799:0.4907	.	400;958	B4DZQ8;O95342	.;ABCBB_HUMAN	Q	958	ENSP00000263817:R958Q	ENSP00000263817:R958Q	R	-	2	0	ABCB11	169500123	0.000000	0.05858	0.005000	0.12908	0.665000	0.39181	-0.719000	0.04974	-0.109000	0.12044	-0.136000	0.14681	CGG		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		T	169791877	C	T	169791877	3	4	255	1	0	0	0	0	1	0	0	0	42	652	23	2	1116	2	ABCB11	2	169791877	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	56287836	169791877	73407496	19	18182											
FZD5	7855	broad.mit.edu	37	chr2	208632195	208632195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggatgcggaagagcgacacGaagcccgccagcaggaagag	13	1	16	11	5	0	2	0	0	0	2	0	7	0	5	2	3	4	1	2	3	3	0	rs35642228		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:208632195G>A	ENST00000295417.3	-	2	1822	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	423					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGAGCGACACGAAGCCCGCCA	0.637																																						uc021vvr.1																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1267-1269)ttC>ttT		Homo sapiens frizzled family receptor 5 (FZD5), mRNA.							43	43	43					2																	208632195		2203	4300	6503	SO:0001819	synonymous_variant	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632195G>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1269C>T	2.37:g.208632195G>A						FZD5_uc002vcj.3_Silent_p.F423F	p.F423F	NM_003468	NP_003459	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	0	1269	-			423					A8K2X1|B2RCZ1|Q53R22	Silent	SNP	ENST00000295417.3	37	c.1269C>T	CCDS33366.1																																																																																				0.637	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		A	208632195	G	A	208632195	2	1	255	1	0	0	0	0	0	0	0	1	6133	1049	37	2		2	FZD5	2	208632195	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	38840318	208632195	34567178	20	18183											
RBM44	375316	broad.mit.edu	37	chr2	238727201	238727201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaggaaaatctctctccGttgacagtttaaaacctaat	14	12	6	9	1	3	1	1	1	2	0	5	3	3	2	2	1	1	2	2	1	5	4	rs558399203		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:238727201G>A	ENST00000409864.1	+	3	1896	c.1642G>A	c.(1642-1644)Gtt>Att	p.V548I	RBM44_ENST00000316997.4_Missense_Mutation_p.V548I|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	547						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATCTCTCTCCGTTGACAGTTT	0.308													G|||	1	0.000199681	0	0	5008	,	,		17642	0		0	False		,,,				2504	0.001					uc002vxi.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1642-1644)Gtt>Att		Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.							27	24	25					2																	238727201		1812	4066	5878	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238727201G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1642G>A	2.37:g.238727201G>A	ENSP00000386727:p.Val548Ile						p.V548I	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	2	1774	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	547					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1642G>A	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415243	0.25552	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.24151	1.87;1.87	5.74	2.85	0.33270	.	0.966838	0.08521	N	0.933415	T	0.20941	0.0504	M	0.63428	1.95	0.09310	N	1	P	0.44659	0.84	B	0.28385	0.089	T	0.17992	-1.0351	10	0.44086	T	0.13	-3.1072	7.3135	0.26488	0.0899:0.3278:0.5823:0.0	.	547	Q6ZP01	RBM44_HUMAN	I	548	ENSP00000321179:V548I;ENSP00000386727:V548I	ENSP00000321179:V548I	V	+	1	0	RBM44	238391940	0.000000	0.05858	0.015000	0.15790	0.836000	0.47400	0.346000	0.19997	0.300000	0.22699	0.591000	0.81541	GTT		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		A	238727201	G	A	238727201	3	1	255	1	0	0	0	0	1	0	0	0	13138	1145	40	1	1648	1	RBM44	2	238727201	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	30095006	238727201	4472172	21	18184											
DLEC1	9940	broad.mit.edu	37	chr3	38153750	38153750	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagctgctttcttcccTcacttttcccagggcatgct	7	13	8	13	0	2	0	1	0	1	0	4	1	4	1	2	2	3	4	2	2	1	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38153750T>C	ENST00000308059.6	+	25	3585	c.3564T>C	c.(3562-3564)ccT>ccC	p.P1188P	DLEC1_ENST00000452631.2_Silent_p.P1191P|DLEC1_ENST00000346219.3_Silent_p.P1188P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTTCTTCCCTCACTTTTCCC	0.572																																						uc003chp.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3562-3564)ccT>ccC		Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.							106	112	110					3																	38153750		2027	4170	6197	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38153750T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3564T>C	3.37:g.38153750T>C						DLEC1_uc003cho.1_Silent_p.P1188P|DLEC1_uc010hgv.1_Silent_p.P1191P|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_Non-coding_Transcript	p.P1188P	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	24	3585	+			1188						Silent	SNP	ENST00000308059.6	37	c.3564T>C	CCDS2672.2																																																																																				0.572	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		C	38153750	T	C	38153750	2	2	255	1	0	0	0	0	0	0	0	1	4552	1538	54	4		4	DLEC1	3	38153750	Silent	SNP	T	TCGA-74-6578-01A-11D-1845-08		38153750	159868680	22	18185											
SCN5A	6331	broad.mit.edu	37	chr3	38591818	38591818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaggccgaggctcacacGatggactcacggtccctgtc	8	6	12	15	3	2	0	2	0	0	0	4	3	3	1	3	4	1	1	3	4	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38591818G>A	ENST00000333535.4	-	28	6194	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	SCN5A_ENST00000413689.1_Silent_p.I2015I|SCN5A_ENST00000450102.2_Silent_p.I1961I|SCN5A_ENST00000443581.1_Silent_p.I2014I|SCN5A_ENST00000414099.2_Silent_p.I1997I|SCN5A_ENST00000425664.1_Silent_p.I1997I|SCN5A_ENST00000423572.2_Silent_p.I2014I|SCN5A_ENST00000455624.2_Silent_p.I1982I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Silent_p.I1961I|SCN5A_ENST00000451551.2_Silent_p.I1961I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2015					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGCTCACACGATGGACTCAC	0.592																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(6043-6045)atC>atT		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						72	74	74					3																	38591818		2022	4184	6206	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591818G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.6045C>T	3.37:g.38591818G>A						SCN5A_uc021wvk.1_Silent_p.I1982I|SCN5A_uc021wvl.1_Silent_p.I1961I|SCN5A_uc021wvm.1_Silent_p.I1997I|SCN5A_uc021wvn.1_Silent_p.I2014I|SCN5A_uc021wvp.1_Silent_p.I2015I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1827I|SCN5A_uc021wvi.1_Silent_p.I1881I	p.I2015I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	6097	-	Medulloblastoma(35;0.163)		2015					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.6045C>T	CCDS46796.1																																																																																				0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38591818	G	A	38591818	2	1	255	1	0	0	0	0	0	0	0	1	13922	1048	37	2		2	SCN5A	3	38591818	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	438068	38591818	159430612	23	18186											
PBRM1	55193	broad.mit.edu	37	chr3	52598198	52598198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcattttctggtattTcagttggcctgcaggagagg	8	14	13	6	0	3	1	2	0	1	1	3	3	3	1	1	4	1	3	1	4	2	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:52598198T>C	ENST00000296302.7	-	23	3744	c.3743A>G	c.(3742-3744)gAa>gGa	p.E1248G	PBRM1_ENST00000337303.4_Missense_Mutation_p.E1248G|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1216G|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1263G|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1248G|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1223G|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1263G|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1223G			Q86U86	PB1_HUMAN	polybromo 1	1248	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTGGTATTTCAGTTGGCCT	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	uc003des.2				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3742-3744)gAa>gGa		Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.							97	95	96					3																	52598198		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598198T>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3743A>G	3.37:g.52598198T>C	ENSP00000296302:p.Glu1248Gly					PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.E1248G|PBRM1_uc003der.2_Missense_Mutation_p.E1216G|PBRM1_uc003det.2_Missense_Mutation_p.E1263G|PBRM1_uc003deu.2_Missense_Mutation_p.E1263G|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.E1248G|PBRM1_uc010hmk.1_Missense_Mutation_p.E1223G|PBRM1_uc003dey.2_Missense_Mutation_p.E1223G|PBRM1_uc003dez.1_Missense_Mutation_p.E1247G	p.E1248G	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3755	-			1248			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3743A>G		.	.	.	.	.	.	.	.	.	.	T	26.0	4.691848	0.88735	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.43	5.43	0.79202	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88168	0.6364	L	0.31476	0.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.986;0.996;0.991;0.999;1.0;0.996;0.994	D	0.89820	0.3988	10	0.87932	D	0	-15.4527	15.51	0.75772	0.0:0.0:0.0:1.0	.	1223;1223;1248;1263;1263;1248;1216;1248	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	G	1216;1223;1248;1248;1248;1223;1263;1263;1247	ENSP00000349213:E1216G;ENSP00000378307:E1223G;ENSP00000296302:E1248G;ENSP00000338302:E1248G;ENSP00000386593:E1248G;ENSP00000386529:E1223G;ENSP00000386643:E1263G;ENSP00000386601:E1263G;ENSP00000387775:E1247G	ENSP00000296302:E1248G	E	-	2	0	PBRM1	52573238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.139000	0.71728	2.062000	0.61559	0.533000	0.62120	GAA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52598198	T	C	52598198	3	2	255	1	0	0	0	0	1	0	0	0	11491	1783	62	4	1189	4	PBRM1	3	52598198	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	14006380	52598198	145424232	24	18187											
UBA3	9039	broad.mit.edu	37	chr3	69120763	69120763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgtctaaaaccagaCaaggcctgtgggaataaaaa	17	8	9	7	0	2	2	0	1	2	1	2	3	2	3	2	2	1	0	2	2	8	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:69120763C>T	ENST00000361055.4	-	5	324	c.270G>A	c.(268-270)ttG>ttA	p.L90L	UBA3_ENST00000415609.2_Silent_p.L49L|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Silent_p.L76L	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	90					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TAAAACCAGACAAGGCCTGTG	0.313																																						uc003dno.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(268-270)ttG>ttA		Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.							35	37	36					3																	69120763		2202	4288	6490	SO:0001819	synonymous_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69120763C>T	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"Ubiquitin-like modifier activating enzymes"	12470	protein-coding gene	gene with protein product	"NEDD8-activating enzyme E1 catalytic subunit", "NEDD8-activating enzyme E1 subunit 2"	603172	"ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.270G>A	3.37:g.69120763C>T						UBA3_uc003dnq.3_Silent_p.L76L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_Intron	p.L90L	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	4	290	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	90					A6NLB5|A8K027|O76088|Q9NTU3	Silent	SNP	ENST00000361055.4	37	c.270G>A	CCDS2909.1																																																																																				0.313	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		T	69120763	C	T	69120763	2	4	255	1	0	0	0	0	0	0	0	1	16826	477	17	3		3	UBA3	3	69120763	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	16522565	69120763	128901667	25	18188											
SENP7	57337	broad.mit.edu	37	chr3	101080632	101080632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaaatccagttgtagaTccatctcattactaggcata	15	13	5	8	0	1	1	1	0	1	1	4	1	3	1	2	1	1	3	2	1	7	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:101080632T>G	ENST00000394095.2	-	11	1603	c.1550A>C	c.(1549-1551)gAt>gCt	p.D517A	SENP7_ENST00000314261.7_Missense_Mutation_p.D451A|SENP7_ENST00000348610.3_Missense_Mutation_p.D484A|SENP7_ENST00000358203.3_Missense_Mutation_p.D353A|SENP7_ENST00000394091.1_Missense_Mutation_p.D353A|SENP7_ENST00000394094.2_Missense_Mutation_p.D452A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	517						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGTTGTAGATCCATCTCATT	0.289																																						uc003dut.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1549-1551)gAt>gCt		Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.							54	55	55					3																	101080632		2200	4265	6465	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101080632T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1550A>C	3.37:g.101080632T>G	ENSP00000377655:p.Asp517Ala					SENP7_uc003duu.3_Missense_Mutation_p.D452A|SENP7_uc003duv.3_Missense_Mutation_p.D484A|SENP7_uc003duw.3_Missense_Mutation_p.D451A|SENP7_uc003dux.3_Missense_Mutation_p.D353A	p.D517A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			10	1661	-			517					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.1550A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	14.22	2.468989	0.43839	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.21031	2.03;2.07;2.07;2.07;2.07;2.04	5.71	3.29	0.37713	.	0.590784	0.17429	N	0.174537	T	0.15869	0.0382	L	0.27053	0.805	0.26402	N	0.976404	P;P;P;P	0.43662	0.775;0.814;0.814;0.717	B;B;B;B	0.42214	0.356;0.38;0.38;0.251	T	0.06752	-1.0809	10	0.33141	T	0.24	-1.0853	10.0851	0.42412	0.0:0.0:0.3619:0.6381	.	353;451;484;517	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	517;452;451;353;353;484	ENSP00000377655:D517A;ENSP00000377654:D452A;ENSP00000313624:D451A;ENSP00000377651:D353A;ENSP00000350936:D353A;ENSP00000342159:D484A	ENSP00000313624:D451A	D	-	2	0	SENP7	102563322	0.820000	0.29190	0.982000	0.44146	0.977000	0.68977	0.236000	0.17967	0.418000	0.25898	-0.461000	0.05368	GAT		0.289	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		G	101080632	T	G	101080632	3	3	255	1	0	0	0	0	1	0	0	0	14051	1435	50	5	1658	5	SENP7	3	101080632	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	31959869	101080632	96941798	26	18189											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	12	13	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs121913274		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		178	Substitution - Missense(178)	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)gAg>gCg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61	61	61					3																	178936092		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936092A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545A	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1791	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1634A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			C	178936092	A	C	178936092	3	2	255	1	0	0	0	0	1	0	0	0	11913	304	11	5	1668	5	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	77855460	178936092	19086338	27	18190											
TTC14	151613	broad.mit.edu	37	chr3	180321035	180321035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaattagttctattcGggaattcggttttttcatgg	9	17	11	4	2	2	1	1	0	1	1	4	3	2	3	0	4	0	2	0	4	5	8			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:180321035G>A	ENST00000296015.4	+	3	542	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	TTC14_ENST00000412756.2_Missense_Mutation_p.R137Q|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.R137Q	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	137	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.R137Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTCTATTCGGGAATTCGGT	0.373																																						uc003fkk.3																			1	Substitution - Missense(1)	p.R137Q(2)	large_intestine(1)	endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(409-411)cGg>cAg		Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.							248	231	237					3																	180321035		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180321035G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.410G>A	3.37:g.180321035G>A	ENSP00000296015:p.Arg137Gln					TTC14_uc003fkl.3_Missense_Mutation_p.R137Q|TTC14_uc003fkm.2_Missense_Mutation_p.R137Q	p.R137Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		2	542	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		137			S1 motif.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.410G>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429375	0.96131	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.49432	0.78;0.81	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.46157	1.445	0.80722	D	1	P;D;D	0.89917	0.923;0.963;1.0	P;P;D	0.80764	0.479;0.518;0.994	T	0.63989	-0.6512	10	0.56958	D	0.05	-9.132	19.8449	0.96704	0.0:0.0:1.0:0.0	.	137;137;137	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	Q	137;137;137;137;37;37	ENSP00000296015:R137Q;ENSP00000372027:R137Q	ENSP00000296015:R137Q	R	+	2	0	TTC14	181803729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.213000	0.95133	2.680000	0.91292	0.655000	0.94253	CGG		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		A	180321035	G	A	180321035	3	1	255	1	0	0	0	0	1	0	0	0	16678	1116	39	2	420	2	TTC14	3	180321035	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1384943	180321035	17701395	28	18191											
ACAP2	23527	broad.mit.edu	37	chr3	195015481	195015481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actattggctgacaccgtggAgggtaaagattctcttccat	10	12	10	9	1	1	2	0	1	1	1	3	3	2	3	2	3	0	2	2	3	3	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:195015481A>G	ENST00000326793.6	-	18	1962	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	578					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GACACCGTGGAGGGTAAAGAT	0.368																																						uc003fun.4																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1732-1734)Tcc>Ccc		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.							87	86	87					3																	195015481		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195015481A>G		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1732T>C	3.37:g.195015481A>G	ENSP00000324287:p.Ser578Pro						p.S578P	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			17	1973	-			578					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1732T>C	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.65|14.65	2.599727|2.599727	0.46318|0.46318	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000450200|ENST00000326793	.|T	.|0.47869	.|0.83	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Ankyrin repeat-containing domain (1);	.|0.455157	.|0.25810	.|N	.|0.028143	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.29908|0.29908	0.895|0.895	0.37192|0.37192	D|D	0.903989|0.903989	.|P	.|0.36535	.|0.557	.|B	.|0.31547	.|0.132	T|T	0.37033|0.37033	-0.9723|-0.9723	5|10	.|0.30854	.|T	.|0.27	.|.	11.3298|11.3298	0.49468|0.49468	0.8482:0.1518:0.0:0.0|0.8482:0.1518:0.0:0.0	.|.	.|578	.|Q15057	.|ACAP2_HUMAN	P|P	171|578	.|ENSP00000324287:S578P	.|ENSP00000324287:S578P	L|S	-|-	2|1	0|0	ACAP2|ACAP2	196496770|196496770	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.987000|0.987000	0.75469|0.75469	3.425000|3.425000	0.52771|0.52771	2.218000|2.218000	0.71995|0.71995	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.368	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		G	195015481	A	G	195015481	3	3	255	1	0	0	0	0	1	0	0	0	119	304	11	4	628	4	ACAP2	3	195015481	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	14694446	195015481	3006949	29	18192											
TLR6	10333	broad.mit.edu	37	chr4	38830189	38830189	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtcaatgctttcaatgtCgttttagaataagtaaaatc	14	16	6	5	1	2	1	2	0	0	1	4	1	2	1	0	0	1	3	0	0	7	6	rs371809071		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:38830189C>T	ENST00000381950.1	-	1	971	c.906G>A	c.(904-906)acG>acA	p.T302T	TLR6_ENST00000436693.2_Silent_p.T302T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTCAATGTCGTTTTAGAAT	0.318																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(904-906)acG>acA		Homo sapiens toll-like receptor 6 (TLR6), mRNA.		C		1,4403	2.1+/-5.4	0,1,2201	62	65	64		906	-9.5	0	4		64	0,8598		0,0,4299	no	coding-synonymous	TLR6	NM_006068.4		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		302/797	38830189	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830189C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.906G>A	4.37:g.38830189C>T						TLR6_uc003gtm.3_Silent_p.T302T	p.T302T	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1027	-			302					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	c.906G>A	CCDS3446.1																																																																																				0.318	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			T	38830189	C	T	38830189	2	4	255	1	0	0	0	0	0	0	0	1	15952	871	31	2		2	TLR6	4	38830189	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08		38830189	152324087	30	18193											
CENPC1	1060	broad.mit.edu	37	chr4	68396616	68396616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaactggaactgactttGgatgtgatttctggcactga	12	12	11	6	0	1	4	0	3	1	1	1	6	1	6	0	3	2	1	0	3	3	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:68396616G>A	ENST00000273853.6	-	5	498	c.248C>T	c.(247-249)cCa>cTa	p.P83L		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	83					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										AACTGACTTTGGATGTGATTT	0.363																																						uc003hdd.1																			0				NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(247-249)cCa>cTa		Homo sapiens centromere protein C 1 (CENPC1), mRNA.							65	61	62					4																	68396616		1809	4072	5881	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68396616G>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.248C>T	4.37:g.68396616G>A	ENSP00000273853:p.Pro83Leu					CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P83L	p.P83L	NM_001812	NP_001803	Q03188	CENPC_HUMAN			4	431	-			83					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.248C>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421126	0.11928	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.37	2.63	0.31362	.	1.052800	0.07429	N	0.895300	T	0.28234	0.0697	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.23154	-1.0196	9	0.39692	T	0.17	0.249	5.4517	0.16568	0.1028:0.0:0.6996:0.1976	.	83;83	Q8IW27;Q03188	.;CENPC_HUMAN	L	83	.	ENSP00000273853:P83L	P	-	2	0	CENPC1	68079211	0.056000	0.20664	0.001000	0.08648	0.011000	0.07611	1.202000	0.32271	0.579000	0.29504	-0.169000	0.13324	CCA		0.363	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			A	68396616	G	A	68396616	3	1	255	1	0	0	0	0	1	0	0	0	3229	1348	47	3	2643	3	CENPC1	4	68396616	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	29566427	68396616	122757660	31	18194											
UGT2B7	7364	broad.mit.edu	37	chr4	69978432	69978432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagtttgctagaaaagCaaagaagggaaaaaatgatt	19	8	11	3	0	0	3	0	1	0	2	0	5	0	5	0	2	2	3	0	2	9	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:69978432C>G	ENST00000305231.7	+	6	1614	c.1568C>G	c.(1567-1569)gCa>gGa	p.A523G	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	523					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCTAGAAAAGCAAAGAAGGGA	0.378																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1567-1569)gCa>gGa		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							122	122	122					4																	69978432		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978432C>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1568C>G	4.37:g.69978432C>G	ENSP00000304811:p.Ala523Gly					UGT2B7_uc010ihq.3_3'UTR	p.A523G	NM_001074	NP_001065	P16662	UD2B7_HUMAN			5	1614	+			523					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1568C>G	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.443340	0.00180	.	.	ENSG00000171234	ENST00000305231	T	0.58797	0.31	2.13	1.26	0.21427	.	0.737531	0.11094	N	0.600429	T	0.16854	0.0405	N	0.00152	-1.975	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	9	.	.	.	.	8.033	0.30476	0.0:0.5089:0.4911:0.0	.	523	P16662	UD2B7_HUMAN	G	523	ENSP00000304811:A523G	.	A	+	2	0	UGT2B7	70013021	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.321000	0.08018	0.235000	0.21160	-0.754000	0.03487	GCA		0.378	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		G	69978432	C	G	69978432	3	3	255	1	0	0	0	0	1	0	0	0	16959	710	25	5	1590	5	UGT2B7	4	69978432	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	1581816	69978432	121175844	32	18195											
SHROOM3	57619	broad.mit.edu	37	chr4	77660381	77660381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatggtctaatattcctcGgggcaagggagtgccacccc	10	9	11	11	1	1	0	0	0	1	0	3	1	2	1	4	4	1	1	4	4	5	4	rs146652221	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:77660381G>A	ENST00000296043.6	+	5	2008	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	352					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATATTCCTCGGGGCAAGGGA	0.582																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1054-1056)cGg>cAg		Homo sapiens shroom family member 3 (SHROOM3), mRNA.		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	54	58	57		1055	5.7	1	4	dbSNP_134	57	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SHROOM3	NM_020859.3	43	0,15,6488	AA,AG,GG		0.1279,0.0908,0.1153	probably-damaging	352/1997	77660381	15,12991	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660381G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1055G>A	4.37:g.77660381G>A	ENSP00000296043:p.Arg352Gln					SHROOM3_uc011cbz.1_Missense_Mutation_p.R176Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R227Q|SHROOM3_uc003hkg.3_Missense_Mutation_p.R130Q	p.R352Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	2008	+			352					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1055G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508687	0.64410	9.08E-4	0.001279	ENSG00000138771	ENST00000296043	T	0.53857	0.6	5.65	5.65	0.86999	.	0.659044	0.14305	N	0.328058	T	0.72317	0.3445	M	0.71581	2.175	0.35057	D	0.761152	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.65684	0.683;0.937;0.937	T	0.76862	-0.2802	10	0.62326	D	0.03	-16.7683	18.0832	0.89449	0.0:0.0:1.0:0.0	.	176;352;130	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	Q	352	ENSP00000296043:R352Q	ENSP00000296043:R352Q	R	+	2	0	SHROOM3	77879405	0.292000	0.24362	1.000000	0.80357	0.207000	0.24258	1.902000	0.39848	2.941000	0.99782	0.655000	0.94253	CGG		0.582	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77660381	G	A	77660381	3	1	255	1	0	0	0	0	1	0	0	0	14295	1116	39	2	1073	2	SHROOM3	4	77660381	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	7681949	77660381	113493895	33	18196											
FRAS1	80144	broad.mit.edu	37	chr4	79351554	79351554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagcatacagctgagttccGaaggccgatggccacaggta	12	7	12	10	2	0	1	0	1	0	0	1	3	1	1	3	3	3	4	3	3	4	4	rs377123833		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:79351554G>A	ENST00000325942.6	+	37	5392	c.4952G>A	c.(4951-4953)cGa>cAa	p.R1651Q	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1651Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1651					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGAGTTCCGAAGGCCGATG	0.493													G|||	1	0.000199681	8e-04	0	5008	,	,		19442	0		0	False		,,,				2504	0					uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4951-4953)cGa>cAa		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	0,3894		0,0,1947	55	56	56		4952,4952	-9.2	0	4		56	2,8332		0,2,4165	no	missense,missense	FRAS1	NM_001166133.1,NM_025074.6	43,43	0,2,6112	AA,AG,GG		0.024,0.0,0.0164	benign,benign	1651/1977,1651/4013	79351554	2,12226	1947	4167	6114	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79351554G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4952G>A	4.37:g.79351554G>A	ENSP00000326330:p.Arg1651Gln					FRAS1_uc003hkw.3_Missense_Mutation_p.R1651Q|FRAS1_uc010ijj.2_Missense_Mutation_p.R71Q	p.R1651Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			36	5392	+			1650					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4952G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	3.346	-0.133517	0.06711	0.0	2.4E-4	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.44083	0.93;0.93	5.68	-9.23	0.00672	.	0.879148	0.10254	N	0.696777	T	0.08268	0.0206	N	0.00246	-1.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45279	-0.9272	10	0.02654	T	1	.	14.4841	0.67603	0.2163:0.6699:0.1138:0.0	.	1651;1651	E9PHH6;A2RRR8	.;.	Q	1651;1651;71	ENSP00000326330:R1651Q;ENSP00000264895:R1651Q	ENSP00000264895:R1651Q	R	+	2	0	FRAS1	79570578	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.621000	0.24418	-1.564000	0.01678	-1.543000	0.00907	CGA		0.493	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79351554	G	A	79351554	3	1	255	1	0	0	0	0	1	0	0	0	6042	1058	37	2	5098	2	FRAS1	4	79351554	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1691173	79351554	111802722	34	18197											
ANK2	287	broad.mit.edu	37	chr4	114262932	114262932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatctgcgtaccttatatgGccaaatttgtagtgtttgcc	8	17	8	8	1	1	0	0	0	1	0	1	0	1	0	3	1	3	3	3	1	6	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:114262932G>A	ENST00000357077.4	+	33	4035	c.3982G>A	c.(3982-3984)Gcc>Acc	p.A1328T	ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000509550.1_Missense_Mutation_p.A504T|ANK2_ENST00000394537.3_Missense_Mutation_p.A1328T|ANK2_ENST00000506722.1_Missense_Mutation_p.A1319T|ANK2_ENST00000264366.6_Missense_Mutation_p.A1295T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1328	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCTTATATGGCCAAATTTGT	0.393																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3982-3984)Gcc>Acc		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							142	142	142					4																	114262932		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114262932G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3982G>A	4.37:g.114262932G>A	ENSP00000349588:p.Ala1328Thr					ANK2_uc003ibd.4_Missense_Mutation_p.A1319T|ANK2_uc003ibf.4_Missense_Mutation_p.A1328T|ANK2_uc011cgc.2_Missense_Mutation_p.A504T|ANK2_uc003ibg.4_Missense_Mutation_p.A323T|ANK2_uc003ibh.4_Missense_Mutation_p.A2T|ANK2_uc011cgb.1_Missense_Mutation_p.A1343T	p.A1328T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	32	4082	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1295					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3982G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.208804|5.208804	0.95069|0.95069	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960;ENST00000504415	T;T;T;T;T;T;T|.	0.32272|.	1.46;1.46;1.46;1.46;1.46;1.46;1.46|.	5.68|5.68	4.83|4.83	0.62350|0.62350	.|.	0.116708|.	0.37623|.	N|.	0.002011|.	T|T	0.73953|0.73953	0.3653|0.3653	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.958;1.0;0.999;1.0;1.0|.	D;D;P;D;D;D;D|.	0.91635|.	0.982;0.998;0.835;0.998;0.991;0.999;0.999|.	T|T	0.74321|0.74321	-0.3703|-0.3703	10|5	0.72032|.	D|.	0.01|.	.|.	16.5465|16.5465	0.84448|0.84448	0.0:0.1309:0.8691:0.0|0.0:0.1309:0.8691:0.0	.|.	504;1295;374;340;1328;1328;1319|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	T|D	1241;1319;374;1343;1328;1328;1295;1319;504|340;22	ENSP00000421011:A1241T;ENSP00000421067:A1319T;ENSP00000424722:A1343T;ENSP00000378044:A1328T;ENSP00000349588:A1328T;ENSP00000264366:A1295T;ENSP00000426944:A504T|.	ENSP00000264366:A1295T|.	A|G	+|+	1|2	0|0	ANK2|ANK2	114482381|114482381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	1.370000|1.370000	0.46153|0.46153	0.591000|0.591000	0.81541|0.81541	GCC|GGC		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114262932	G	A	114262932	3	1	255	1	0	0	0	0	1	0	0	0	621	1203	42	3	4177	3	ANK2	4	114262932	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	34911378	114262932	76891344	35	18198											
RGNEF	64283	broad.mit.edu	37	chr5	73128174	73128174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactctagatcgctccttcGatatcctaaaaaaatccaag	14	11	5	11	2	1	1	0	0	1	1	6	2	4	1	3	0	1	2	3	0	8	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:73128174G>A	ENST00000426542.2	+	9	1056	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D346N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D346N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D346N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D346N|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D33N|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.D346N			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	346					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCGCTCCTTCGATATCCTAAA	0.423																																						uc010izf.3																			0											c.(1036-1038)Gat>Aat		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							94	82	86					5																	73128174		1849	4097	5946	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73128174G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1036G>A	5.37:g.73128174G>A	ENSP00000412175:p.Asp346Asn					RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N	p.D346N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	9	1212	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	346					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1036G>A	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262376	0.80358	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.13657	3.02;3.01;3.01;2.78;3.01;3.01;2.57	5.48	5.48	0.80851	.	.	.	.	.	T	0.36771	0.0979	M	0.71581	2.175	0.32242	N	0.572567	D;D;D;D;D	0.76494	0.993;0.998;0.997;0.999;0.999	P;P;P;P;P	0.62014	0.632;0.794;0.734;0.897;0.864	T	0.37337	-0.9710	9	0.72032	D	0.01	.	18.4797	0.90807	0.0:0.0:1.0:0.0	.	33;346;346;346;346	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	N	346;346;346;346;346;346;33	ENSP00000296794:D346N;ENSP00000441913:D346N;ENSP00000441436:D346N;ENSP00000287898:D346N;ENSP00000411459:D346N;ENSP00000412175:D346N;ENSP00000296799:D33N	ENSP00000287898:D346N	D	+	1	0	RP11-428C6.1	73163930	1.000000	0.71417	0.808000	0.32385	0.778000	0.44026	6.133000	0.71682	2.722000	0.93159	0.650000	0.86243	GAT		0.423	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73128174	G	A	73128174	3	1	255	1	0	0	0	0	1	0	0	0	13283	1058	37	2	1070	2	RGNEF	5	73128174	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		73128174	107787086	36	18199											
SLC36A2	153201	broad.mit.edu	37	chr5	150726999	150726999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggctccctggggacccTcagtactttttgtcacagac	8	10	9	14	1	2	1	2	0	0	1	3	2	3	2	2	3	2	2	2	3	2	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:150726999T>A	ENST00000335244.4	-	1	152	c.23A>T	c.(22-24)gAg>gTg	p.E8V	SLC36A2_ENST00000521967.1_Missense_Mutation_p.E8V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	8					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTGGGGACCCTCAGTACTTTT	0.493																																						uc003lty.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(22-24)gAg>gTg		Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.							149	149	149					5																	150726999		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150726999T>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.23A>T	5.37:g.150726999T>A	ENSP00000334223:p.Glu8Val					SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E8V|SLC36A2_uc011dct.1_Missense_Mutation_p.E8V	p.E8V	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	153	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	8					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.23A>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403261	0.25291	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10192	3.71;2.9	4.98	-3.63	0.04529	.	1.692360	0.02899	N	0.135128	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B;B;B	0.33073	0.396;0.089;0.158	B;B;B	0.26770	0.073;0.032;0.035	T	0.33163	-0.9879	10	0.37606	T	0.19	6.9162	12.4753	0.55809	0.0:0.2277:0.0:0.7723	.	8;8;8	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	V	8	ENSP00000334223:E8V;ENSP00000430535:E8V	ENSP00000334223:E8V	E	-	2	0	SLC36A2	150707192	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.735000	0.01847	-0.685000	0.05177	-0.242000	0.12053	GAG		0.493	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			A	150726999	T	A	150726999	3	1	255	1	0	0	0	0	1	0	0	0	14594	1551	54	5	1468	5	SLC36A2	5	150726999	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	77598825	150726999	30188261	37	18200											
DSP	1832	broad.mit.edu	37	chr6	7575560	7575560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgaacttgaagaagtcGttgttggccactatgaagac	12	11	11	7	1	0	5	0	3	0	2	1	6	0	5	1	1	1	2	1	1	5	5	rs368945617		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:7575560G>A	ENST00000379802.3	+	18	2810	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	DSP_ENST00000418664.2_Silent_p.S823S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	823	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGAAGTCGTTGTTGGCCA	0.393																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2467-2469)tcG>tcA		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	124	124	124		2469,2469	-3.5	0	6		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	823/2273,823/2872	7575560	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7575560G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2469G>A	6.37:g.7575560G>A						DSP_uc003mxq.1_Silent_p.S823S|DSP_uc021yle.1_Silent_p.S823S	p.S823S	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	17	2748	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	823			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.2469G>A	CCDS4501.1																																																																																				0.393	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7575560	G	A	7575560	2	1	255	1	0	0	0	0	0	0	0	1	4781	1132	40	1		1	DSP	6	7575560	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		7575560	163539507	38	18201											
RHAG	6005	broad.mit.edu	37	chr6	49582542	49582542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagttaaagctgggcCaaaacatccacagaaagaga	16	5	11	9	1	0	2	0	0	0	2	1	4	1	2	3	2	2	2	3	2	5	1	rs77467572		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:49582542C>A	ENST00000371175.4	-	5	691	c.665G>T	c.(664-666)tGg>tTg	p.W222L	RHAG_ENST00000229810.7_Missense_Mutation_p.W222L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	222					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGCTGGGCCAAAACATCCA	0.463																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(664-666)tGg>tTg		Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.							138	129	132					6																	49582542		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582542C>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.665G>T	6.37:g.49582542C>A	ENSP00000360217:p.Trp222Leu					RHAG_uc010jzl.3_Missense_Mutation_p.W222L|RHAG_uc010jzm.3_Missense_Mutation_p.W222L	p.W222L	NM_000324	NP_000315	Q02094	RHAG_HUMAN			4	727	-	Lung NSC(77;0.0255)		222					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.665G>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982274	0.93044	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.74002	-0.8;-0.8	5.76	5.76	0.90799	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91753	0.5414	10	0.87932	D	0	-8.183	18.9695	0.92709	0.0:1.0:0.0:0.0	.	222;222;222	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	L	222	ENSP00000360217:W222L;ENSP00000229810:W222L	ENSP00000229810:W222L	W	-	2	0	RHAG	49690501	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TGG		0.463	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			A	49582542	C	A	49582542	3	1	255	1	0	0	0	0	1	0	0	0	13315	595	21	5	588	5	RHAG	6	49582542	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	42006982	49582542	121532525	39	18202											
COL9A1	1297	broad.mit.edu	37	chr6	70961988	70961988	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcctgaatttcccatctGaccaggcttccctggagcac	7	12	8	14	0	1	2	0	2	1	0	3	3	3	3	4	2	2	2	4	2	1	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:70961988G>A	ENST00000357250.6	-	27	1953	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	COL9A1_ENST00000370499.4_Nonsense_Mutation_p.Q356*|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.Q356*|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	599	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTTCCCATCTGACCAGGCTTC	0.423																																						uc003pfg.4																			0		p.G598C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1795-1797)Cag>Tag		Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.							119	116	117					6																	70961988		2203	4300	6503	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70961988G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1795C>T	6.37:g.70961988G>A	ENSP00000349790:p.Gln599*					COL9A1_uc003pfe.4_Nonsense_Mutation_p.Q172*|COL9A1_uc003pff.4_Nonsense_Mutation_p.Q356*	p.Q599*	NM_001851	NP_001842	P20849	CO9A1_HUMAN			26	1954	-			599			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.1795C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999057	0.54147	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.66	3.79	0.43588	.	0.447975	0.25148	N	0.032765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.5876	0.12289	0.1644:0.2172:0.6184:0.0	.	.	.	.	X	599;356;356	.	ENSP00000315252:Q356X	Q	-	1	0	COL9A1	71018709	0.088000	0.21588	0.624000	0.29186	0.452000	0.32318	1.272000	0.33109	2.665000	0.90641	0.563000	0.77884	CAG		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70961988	G	A	70961988	4	1	255	1	0	0	0	0	0	1	0	0	3707	1299	45	3	1018	3	COL9A1	6	70961988	Nonsense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	21379446	70961988	100153079	40	18203											
COL1A2	1278	broad.mit.edu	37	chr7	94039079	94039079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcctccctggaccccgCggtattcctggccctgttgg	2	9	12	18	3	0	0	0	0	0	0	2	1	2	1	7	5	0	2	7	5	1	3	rs141762645	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:94039079C>T	ENST00000297268.6	+	19	1452	c.981C>T	c.(979-981)cgC>cgT	p.R327R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	327					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGACCCCGCGGTATTCCTG	0.592										HNSCC(75;0.22)			C|||	2	0.000399361	8e-04	0	5008	,	,		14100	0		0	False		,,,				2504	0.001					uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(979-981)cgC>cgT		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)	C		3,4403	6.2+/-15.9	0,3,2200	102	101	101		981	-7.5	1	7	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	COL1A2	NM_000089.3		0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461		327/1367	94039079	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039079C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.981C>T	7.37:g.94039079C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.R327R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	1452	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		327					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.981C>T	CCDS34682.1																																																																																				0.592	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94039079	C	T	94039079	2	4	255	1	0	0	0	0	0	0	0	1	3678	755	27	1		1	COL1A2	7	94039079	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08		94039079	65099584	41	18204											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536869	146536869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttgactttggcaatcGgaagcagatcagtgccattg	10	11	12	8	1	2	2	2	1	0	1	3	3	2	3	1	3	2	3	1	3	2	3	rs138924087		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:146536869G>A	ENST00000361727.3	+	3	791	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	92	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R92Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTGGCAATCGGAAGCAGATC	0.502										HNSCC(39;0.1)			G|||	1	0.000199681	8e-04	0	5008	,	,		17468	0		0	False		,,,				2504	0					uc003weu.2																			1	Substitution - Missense(1)	p.R92Q(2)	haematopoietic_and_lymphoid_tissue(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(274-276)cGg>cAg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95	82	86		275	5.8	1	7	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	92/1332	146536869	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536869G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.275G>A	7.37:g.146536869G>A	ENSP00000354778:p.Arg92Gln	HNSCC(39;0.1)					p.R92Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	791	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	92			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.275G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636114	0.96693	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	D	0.98150	-4.75	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.51477	D	0.000081	D	0.97343	0.9131	L	0.52011	1.625	0.80722	D	1	P	0.51933	0.949	P	0.50754	0.649	D	0.97724	1.0198	10	0.66056	D	0.02	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	92	Q9UHC6	CNTP2_HUMAN	Q	92	ENSP00000354778:R92Q	ENSP00000354778:R92Q	R	+	2	0	CNTNAP2	146167802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	CGG		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146536869	G	A	146536869	3	1	255	1	0	0	0	0	1	0	0	0	3647	1116	39	2	285	2	CNTNAP2	7	146536869	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	52497790	146536869	12601794	42	18205											
DOCK5	80005	broad.mit.edu	37	chr8	25220568	25220568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgttctccgcaggacttCctcatggaaacttttatcat	8	15	6	12	1	4	0	2	0	2	0	6	2	5	2	2	2	1	2	2	2	2	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:25220568C>A	ENST00000276440.7	+	29	2999	c.2955C>A	c.(2953-2955)ttC>ttA	p.F985L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	985					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CGCAGGACTTCCTCATGGAAA	0.443																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2953-2955)ttC>ttA		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							128	124	126					8																	25220568		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25220568C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2955C>A	8.37:g.25220568C>A	ENSP00000276440:p.Phe985Leu					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.F699L|DOCK5_uc003xei.3_Missense_Mutation_p.F555L|DOCK5_uc003xej.3_Non-coding_Transcript	p.F985L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	28	3092	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	985					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2955C>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.394469|4.394469	0.83011|0.83011	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.20598|.	2.06|.	5.68|5.68	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74581|0.74581	0.3735|0.3735	M|M	0.82193|0.82193	2.58|2.58	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.947;0.94|.	D;P;P|.	0.70935|.	0.971;0.742;0.808|.	T|T	0.74754|0.74754	-0.3558|-0.3558	10|5	0.87932|.	D|.	0|.	.|.	11.7979|11.7979	0.52110|0.52110	0.0:0.8552:0.0:0.1448|0.0:0.8552:0.0:0.1448	.|.	975;760;985|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	L|T	985|757	ENSP00000276440:F985L|.	ENSP00000276440:F985L|.	F|P	+|+	3|1	2|0	DOCK5|DOCK5	25276485|25276485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.580000|1.580000	0.36547|0.36547	0.723000|0.723000	0.32274|0.32274	0.650000|0.650000	0.86243|0.86243	TTC|CCT		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25220568	C	A	25220568	3	1	255	1	0	0	0	0	1	0	0	0	4690	854	30	5	3069	5	DOCK5	8	25220568	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		25220568	121143454	43	18206											
FNTA	2339	broad.mit.edu	37	chr8	42939877	42939877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggatcgtggtctttcCaaatatcctaatctgttaaa	11	15	7	8	1	2	0	0	0	2	0	5	1	4	1	2	2	1	2	2	2	5	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:42939877C>T	ENST00000302279.3	+	8	1064	c.870C>T	c.(868-870)tcC>tcT	p.S290S	FNTA_ENST00000529687.1_Silent_p.S139S|FNTA_ENST00000342116.4_Silent_p.S223S	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	290					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GTGGTCTTTCCAAATATCCTA	0.343																																						uc003xps.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(868-870)tcC>tcT		Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.							65	62	63					8																	42939877		2203	4300	6503	SO:0001819	synonymous_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42939877C>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.870C>T	8.37:g.42939877C>T						FNTA_uc003xpt.3_Silent_p.S199S|FNTA_uc003xpv.3_Non-coding_Transcript	p.S290S	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		7	918	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	290					A6NJW0|Q53XJ9|Q9UDC1	Silent	SNP	ENST00000302279.3	37	c.870C>T	CCDS6140.1																																																																																				0.343	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		T	42939877	C	T	42939877	2	4	255	1	0	0	0	0	0	0	0	1	5977	581	21	3		3	FNTA	8	42939877	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	17719309	42939877	103424145	44	18207											
SPAG1	6674	broad.mit.edu	37	chr8	101203698	101203698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgagtaaagtactagatGttgagcctgataatgatttg	13	15	10	3	0	0	5	0	4	0	1	0	5	0	5	1	0	2	3	1	0	5	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:101203698G>A	ENST00000388798.2	+	9	1104	c.913G>A	c.(913-915)Gtt>Att	p.V305I	SPAG1_ENST00000251809.3_Missense_Mutation_p.V305I|SPAG1_ENST00000520508.1_Missense_Mutation_p.V305I|SPAG1_ENST00000520643.1_Missense_Mutation_p.V305I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	305					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGTACTAGATGTTGAGCCTGA	0.348																																						uc003yjh.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(913-915)Gtt>Att		Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.							100	96	97					8																	101203698		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101203698G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.913G>A	8.37:g.101203698G>A	ENSP00000373450:p.Val305Ile					SPAG1_uc003yjg.1_Missense_Mutation_p.V305I|SPAG1_uc003yji.2_Missense_Mutation_p.V305I	p.V305I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	8	999	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	305					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.913G>A	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	2.800	-0.249297	0.05867	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.09	2.2	0.27929	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.962032	0.08692	N	0.907873	T	0.33000	0.0848	N	0.10685	0.025	0.09310	N	1	B;B	0.22003	0.063;0.01	B;B	0.26310	0.068;0.011	T	0.30563	-0.9974	10	0.16420	T	0.52	-2.1304	4.3795	0.11286	0.2486:0.0:0.5804:0.171	.	305;305	Q07617;G3XAM3	SPAG1_HUMAN;.	I	305	ENSP00000427716:V305I;ENSP00000251809:V305I;ENSP00000428070:V305I;ENSP00000373450:V305I	ENSP00000251809:V305I	V	+	1	0	SPAG1	101272874	0.333000	0.24731	0.067000	0.19924	0.426000	0.31534	1.772000	0.38552	0.634000	0.30469	0.555000	0.69702	GTT		0.348	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		A	101203698	G	A	101203698	3	1	255	1	0	0	0	0	1	0	0	0	14975	1377	48	3	943	3	SPAG1	8	101203698	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	58263821	101203698	45160324	45	18208											
FER1L6	654463	broad.mit.edu	37	chr8	125131869	125131869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagacacctccttttcGtggttcatgagcccctttaa	7	12	7	15	2	1	2	1	1	0	1	3	2	2	2	5	1	1	1	5	1	1	5	rs374383727		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:125131869G>A	ENST00000522917.1	+	41	5618	c.5412G>A	c.(5410-5412)tcG>tcA	p.S1804S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.S1804S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1804						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTCCTTTTCGTGGTTCATGA	0.458																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5410-5412)tcG>tcA		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.		G		1,3911		0,1,1955	168	169	169		5412	-1.6	0.9	8		169	0,8272		0,0,4136	no	coding-synonymous	FER1L6	NM_001039112.2		0,1,6091	AA,AG,GG		0.0,0.0256,0.0082		1804/1858	125131869	1,12183	1956	4136	6092	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125131869G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5412G>A	8.37:g.125131869G>A						AK057332_uc003yqy.1_Intron	p.S1804S	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5618	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1804						Silent	SNP	ENST00000522917.1	37	c.5412G>A	CCDS43767.1																																																																																				0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125131869	G	A	125131869	2	1	255	1	0	0	0	0	0	0	0	1	5815	1132	40	1		1	FER1L6	8	125131869	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	23928171	125131869	21232153	46	18209											
PLEC	5339	broad.mit.edu	37	chr8	144992335	144992335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttccgcaggccacggAaggtcagcttgcgggcgtcc	5	8	14	14	4	2	0	1	0	1	0	4	1	4	1	3	4	3	3	3	4	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:144992335A>G	ENST00000322810.4	-	32	12234	c.12065T>C	c.(12064-12066)tTc>tCc	p.F4022S	PLEC_ENST00000527096.1_Missense_Mutation_p.F3908S|PLEC_ENST00000436759.2_Missense_Mutation_p.F3912S|PLEC_ENST00000345136.3_Missense_Mutation_p.F3885S|PLEC_ENST00000356346.3_Missense_Mutation_p.F3871S|PLEC_ENST00000354958.2_Missense_Mutation_p.F3863S|PLEC_ENST00000398774.2_Missense_Mutation_p.F3853S|PLEC_ENST00000357649.2_Missense_Mutation_p.F3889S|PLEC_ENST00000354589.3_Missense_Mutation_p.F3885S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4022	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCACGGAAGGTCAGCTT	0.692																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12064-12066)tTc>tCc		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							11	14	13					8																	144992335		1938	4093	6031	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992335A>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12065T>C	8.37:g.144992335A>G	ENSP00000323856:p.Phe4022Ser					PLEC_uc003zab.1_Missense_Mutation_p.F3885S|PLEC_uc003zac.1_Missense_Mutation_p.F3889S|PLEC_uc003zad.2_Missense_Mutation_p.F3885S|PLEC_uc003zae.1_Missense_Mutation_p.F3853S|PLEC_uc003zag.1_Missense_Mutation_p.F3863S|PLEC_uc003zah.2_Missense_Mutation_p.F3871S|PLEC_uc003zaj.2_Missense_Mutation_p.F3912S	p.F4022S	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	12235	-			4022			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12065T>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	6.168	0.399208	0.11696	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.21	4.21	0.49690	.	0.000000	0.64402	U	0.000006	T	0.81489	0.4833	M	0.83483	2.645	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.83669	0.0165	10	0.56958	D	0.05	.	12.3924	0.55366	1.0:0.0:0.0:0.0	.	3912;3871;3863;4022;3853;3885;3889;3885	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3885;3889;3885;3853;4022;3863;3871;3912;3908	ENSP00000344848:F3885S;ENSP00000350277:F3889S;ENSP00000346602:F3885S;ENSP00000381756:F3853S;ENSP00000323856:F4022S;ENSP00000347044:F3863S;ENSP00000348702:F3871S;ENSP00000388180:F3912S;ENSP00000434583:F3908S	ENSP00000323856:F4022S	F	-	2	0	PLEC	145064323	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	7.251000	0.78297	1.760000	0.52011	0.368000	0.22195	TTC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144992335	A	G	144992335	3	3	255	1	0	0	0	0	1	0	0	0	12052	246	9	4	1993	4	PLEC	8	144992335	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	19860466	144992335	1371687	47	18210											
GLDC	2731	broad.mit.edu	37	chr9	6592871	6592871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccatcctcaaaaagccGaaaattgatctgccgctgag	12	9	9	11	2	2	2	1	2	1	0	3	3	3	2	4	0	3	1	4	0	4	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:6592871G>A	ENST00000321612.6	-	10	1531	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	461					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TCAAAAAGCCGAAAATTGATC	0.403																																						uc003zkc.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1381-1383)Cgg>Tgg		Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						62	64	64					9																	6592871		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592871G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1381C>T	9.37:g.6592871G>A	ENSP00000370737:p.Arg461Trp						p.R461W	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	9	1574	-		Acute lymphoblastic leukemia(23;0.161)	461					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1381C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571083	0.65765	.	.	ENSG00000178445	ENST00000321612	D	0.95918	-3.85	5.74	4.82	0.62117	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98331	1.0533	10	0.87932	D	0	-21.0009	13.3474	0.60582	0.0:0.0:0.5939:0.4061	.	461	P23378	GCSP_HUMAN	W	461	ENSP00000370737:R461W	ENSP00000370737:R461W	R	-	1	2	GLDC	6582871	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	4.304000	0.59104	1.383000	0.46405	0.563000	0.77884	CGG		0.403	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		A	6592871	G	A	6592871	3	1	255	1	0	0	0	0	1	0	0	0	6433	1057	37	2	1745	2	GLDC	9	6592871	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		6592871	134620560	48	18211											
PAX5	5079	broad.mit.edu	37	chr9	37020754	37020754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacatccgggagtggccGtccattcacaaaaacccccc	11	6	8	16	2	1	0	1	0	0	0	3	2	3	1	6	2	2	0	6	2	3	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:37020754G>A	ENST00000358127.4	-	2	165	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PAX5_ENST00000446742.1_Missense_Mutation_p.R31W|PAX5_ENST00000520154.1_Missense_Mutation_p.R31W|PAX5_ENST00000523241.1_Missense_Mutation_p.R31W|PAX5_ENST00000377852.2_Missense_Mutation_p.R31W|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.R31W|PAX5_ENST00000520281.1_Missense_Mutation_p.R31W|PAX5_ENST00000377847.2_Missense_Mutation_p.R31W|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.R31W	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	31	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGAGTGGCCGTCCATTCACA	0.522			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	uc003zzo.1				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	41	Unknown(41)	p.?(41)	haematopoietic_and_lymphoid_tissue(41)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(91-93)Cgg>Tgg		Homo sapiens paired box 5 (PAX5), mRNA.							107	98	101					9																	37020754		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37020754G>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.91C>T	9.37:g.37020754G>A	ENSP00000350844:p.Arg31Trp					PAX5_uc011lqc.1_Missense_Mutation_p.R31W|PAX5_uc010mlr.1_Missense_Mutation_p.R31W|PAX5_uc011lpw.1_Missense_Mutation_p.R31W|PAX5_uc011lpx.1_Missense_Mutation_p.R31W|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R31W|PAX5_uc011lpz.1_Missense_Mutation_p.R31W|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R31W|PAX5_uc010mlp.1_Missense_Mutation_p.R31W|PAX5_uc011lqd.1_Missense_Mutation_p.R30W|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	p.R31W	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	1	539	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	31			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.91C>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829069	0.71258	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	5.59	4.69	0.59074	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;1.0;0.999;0.995;1.0;1.0;0.998;0.995;0.995	D	0.96837	0.9615	10	0.87932	D	0	.	13.5383	0.61659	0.0:0.0:0.7163:0.2837	.	30;31;31;31;31;31;31;31;31;31	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	W	31	ENSP00000350844:R31W;ENSP00000367084:R31W;ENSP00000367083:R31W;ENSP00000429637:R31W;ENSP00000429291:R31W;ENSP00000430773:R31W;ENSP00000404687:R31W;ENSP00000412188:R31W;ENSP00000367078:R31W	ENSP00000350844:R31W	R	-	1	2	PAX5	37010754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.294000	0.51787	1.324000	0.45282	0.655000	0.94253	CGG		0.522	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			A	37020754	G	A	37020754	3	1	255	1	0	0	0	0	1	0	0	0	11482	1144	40	1	1120	1	PAX5	9	37020754	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	30427883	37020754	104192677	49	18212											
CYLC2	1539	broad.mit.edu	37	chr9	105767035	105767035	+	Frame_Shift_Del	DEL	C	C	-																															accattatggatgtaccgttCtttaatgagaatttctgaga																										TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:105767035delC	ENST00000374798.3	+	4	309	c.239delC	c.(238-240)tctfs	p.S80fs	CYLC2_ENST00000487798.1_Frame_Shift_Del_p.S80fs	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	80	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGTACCGTTCTTTAATGAGA	0.398																																						uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(238-240)tctfs		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							87	83	85					9																	105767035		2203	4300	6503	SO:0001589	frameshift_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767035delC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.239delC	9.37:g.105767035delC	ENSP00000420256:p.Ser80fs						p.S80fs	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	309	+		all_hematologic(171;0.125)	80			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Frame_Shift_Del	DEL	ENST00000374798.3	37	c.239delC	CCDS35085.1																																																																																				0.398	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		-	105767035	C	-	105767035	7	5	255	1	0	1	0	1	0	0	0	0	4142	913	32	0	253	0	CYLC2	9	105767035	Frame_Shift_Del	DEL	C	TCGA-74-6578-01A-11D-1845-08	68746281	105767035	35446396	50	18213											
NOXA1	377841	broad.mit.edu	37	chr9	140327980	140327980	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggccctgagggcaCgaagaggagccgacctgtcc	9	5	14	13	2	1	2	1	1	0	1	2	5	2	3	4	3	1	1	4	3	1	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:140327980C>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Nonsense_Mutation_p.R329*|NOXA1_ENST00000392815.2_Nonsense_Mutation_p.R273*			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCTGAGGGCACGAAGAGGAGC	0.701																																						uc004cmu.3																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(985-987)Cga>Tga		Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.							16	20	19					9																	140327980		2191	4289	6480	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327980C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327980C>T						NOXA1_uc004cmv.3_Nonsense_Mutation_p.R329*|NOXA1_uc010nch.3_Nonsense_Mutation_p.R273*	p.R329*	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1120	+	all_cancers(76;0.0926)		329	R -> G (in Ref. 6; AAC18046).	Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	OPR.		A2BG17|Q6UVZ0	Nonsense_Mutation	SNP	ENST00000472938.1	37	c.985C>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402724	0.42613	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	.	.	.	3.17	0.561	0.17285	.	1.316260	0.05197	N	0.504255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.2512	0.15522	0.4119:0.4702:0.0:0.1179	.	.	.	.	X	329;273	.	ENSP00000342848:R329X	R	+	1	2	NOXA1	139447801	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.302000	0.19192	0.037000	0.15575	-1.367000	0.01198	CGA		0.701	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		T	140327980	C	T	140327980	1	4	255	0	1	0	0	0	0	0	0	0	10560	528	19	1		1	NOXA1	9	140327980	IGR	SNP	C	TCGA-74-6578-01A-11D-1845-08	34560945	140327980	885451	51	18214											
ZNF365	22891	broad.mit.edu	37	chr10	64415230	64415230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaaacccaagtttggcGttggcagtcaggtaattcat	12	10	12	7	1	2	0	2	0	0	0	2	2	2	1	1	4	1	4	1	4	4	4	rs41306564		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:64415230G>A	ENST00000395251.1	+	4	564	c.230G>A	c.(229-231)cGt>cAt	p.R77H	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	77										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGTTTGGCGTTGGCAGTCA	0.507																																						uc001jmc.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27								Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.							132	105	114					10																	64415230		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415230G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.230G>A	10.37:g.64415230G>A	ENSP00000378672:p.Arg77His					ZNF365_uc001jmd.1_Missense_Mutation_p.R77H|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron		NM_199451	NP_955523	Q70YC4	TALAN_HUMAN					+	Prostate(12;0.0297)|all_hematologic(501;0.228)								Missense_Mutation	SNP	ENST00000395251.1	37		CCDS7265.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803274	0.31869	.	.	ENSG00000138311	ENST00000395251	T	0.56103	0.48	4.75	-3.29	0.05017	.	.	.	.	.	T	0.24851	0.0603	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.13764	-1.0497	9	0.87932	D	0	.	1.4125	0.02295	0.3652:0.289:0.2205:0.1253	rs41306564	77	Q70YC4	TALAN_HUMAN	H	77	ENSP00000378672:R77H	ENSP00000378672:R77H	R	+	2	0	ZNF365	64085236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.260000	0.02858	-0.811000	0.04369	-0.742000	0.03525	CGT		0.507	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		A	64415230	G	A	64415230	3	1	255	1	0	0	0	0	1	0	0	0	17866	1145	40	1	1718	1	ZNF365	10	64415230	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		64415230	71119517	52	18215											
SMC3	9126	broad.mit.edu	37	chr10	112350849	112350851	+	In_Frame_Del	DEL	AAC	AAC	-																															aggttacttttctgcctcttAacaagttagatgtcagggat																										TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:112350849_112350851delAAC	ENST00000361804.4	+	17	1897_1899	c.1771_1773delAAC	c.(1771-1773)aacdel	p.N591del		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	591	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCTGCCTCTTAACAAGTTAGATG	0.325																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1771-1773)aacdel		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.																																				SO:0001651	inframe_deletion	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112350849_112350851delAAC	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1771_1773delAAC	10.37:g.112350849_112350851delAAC	ENSP00000354720:p.Asn591del						p.N591del	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	16	1897_1899	+		Breast(234;0.0848)|Lung NSC(174;0.238)	591			Flexible hinge.		A8K156|O60464|Q5T482	In_Frame_Del	DEL	ENST00000361804.4	37	c.1771_1773delAAC	CCDS31285.1																																																																																				0.325	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		-	112350851	AAC	-	112350849	7	5	255	1	0	1	0	1	0	0	0	0	14784	362	13	0	1837	0	SMC3	10	112350849	In_Frame_Del	DEL	AAC	TCGA-74-6578-01A-11D-1845-08	47935619	112350849	23183898	53	18216											
HPX	3263	broad.mit.edu	37	chr11	6462111	6462111	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtcccagctttactcacGgaggaagaggggtggcaatg	10	8	14	9	1	1	1	1	0	0	1	2	3	2	3	1	5	2	2	1	5	4	3	rs566505317		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:6462111G>A	ENST00000265983.3	-	1	183	c.83C>T	c.(82-84)cCg>cTg	p.P28L	HPX_ENST00000525057.1_Intron	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	28					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTTTACTCACGGAGGAAGAGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		17872	0		0	False		,,,				2504	0.001					uc001mdg.2																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.e1+1		Homo sapiens hemopexin (HPX), mRNA.							56	54	55					11																	6462111		2201	4296	6497	SO:0001630	splice_region_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6462111G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.83+1C>T	11.37:g.6462111G>A						HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice	p.P28_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	1	144	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28			O-glycosylated at one, two and three sites.		B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.83_splice	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	2.243	-0.373451	0.05034	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.08807	3.05	4.03	0.828	0.18841	.	1.360120	0.04720	N	0.419142	T	0.04227	0.0117	N	0.08118	0	0.35619	D	0.809307	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.39603	-0.9606	10	0.23302	T	0.38	-24.9543	3.1814	0.06586	0.2792:0.2263:0.4946:0.0	.	28;28	B7Z8Q4;P02790	.;HEMO_HUMAN	L	28	ENSP00000265983:P28L	ENSP00000265983:P28L	P	-	2	0	HPX	6418687	0.549000	0.26481	0.819000	0.32651	0.945000	0.59286	0.463000	0.21972	0.382000	0.24878	0.430000	0.28490	CCG		0.572	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613	Missense_Mutation	A	6462111	G	A	6462111	5	1	255	1	0	0	0	0	0	0	1	0	7346	1130	39	2	1345	2	HPX	11	6462111	Splice_Site	SNP	G	TCGA-74-6578-01A-11D-1845-08		6462111	128544405	54	18217											
DHCR7	1717	broad.mit.edu	37	chr11	71146770	71146770	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccgtgcggcggaacAggtccttctggtggttggcc	4	9	15	13	3	1	0	0	0	1	0	3	1	3	1	4	6	2	1	4	6	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:71146770A>T	ENST00000355527.3	-	9	1355	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	DHCR7_ENST00000407721.2_Missense_Mutation_p.L360Q	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	360					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCGGCGGAACAGGTCCTTCTG	0.662									Smith-Lemli-Opitz syndrome																													uc001oqk.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19	GRCh37	CM042972	DHCR7	M		c.(1078-1080)cTg>cAg		Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	NADH(DB00157)						39	37	38					11																	71146770		2200	4293	6493	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146770A>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1079T>A	11.37:g.71146770A>T	ENSP00000347717:p.Leu360Gln					DHCR7_uc001oql.3_Missense_Mutation_p.L360Q	p.L360Q	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN			8	1329	-			360					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.1079T>A	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.32|13.32	2.202918|2.202918	0.38905|0.38905	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000525137|ENST00000407721;ENST00000355527;ENST00000533800	D|D;D;D	0.99394|0.97831	-5.82|-4.56;-4.56;-4.56	5.12|5.12	3.98|3.98	0.46160|0.46160	.|.	.|0.141158	.|0.48767	.|D	.|0.000172	D|D	0.97102|0.97102	0.9053|0.9053	L|L	0.48877|0.48877	1.53|1.53	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.62365	.|0.991	.|P	.|0.62435	.|0.902	D|D	0.95492|0.95492	0.8570|0.8570	7|10	0.66056|0.32370	D|T	0.02|0.25	-19.6713|-19.6713	9.282|9.282	0.37733|0.37733	0.9105:0.0:0.0895:0.0|0.9105:0.0:0.0895:0.0	.|.	.|360	.|Q9UBM7	.|DHCR7_HUMAN	S|Q	194|360;360;110	ENSP00000435956:C194S|ENSP00000384739:L360Q;ENSP00000347717:L360Q;ENSP00000435011:L110Q	ENSP00000435956:C194S|ENSP00000347717:L360Q	C|L	-|-	1|2	0|0	DHCR7|DHCR7	70824418|70824418	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.838000|0.838000	0.47535|0.47535	6.368000|6.368000	0.73104|0.73104	1.932000|1.932000	0.55993|0.55993	0.459000|0.459000	0.35465|0.35465	TGT|CTG		0.662	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		T	71146770	A	T	71146770	3	4	255	1	0	0	0	0	1	0	0	0	4477	188	7	5	352	5	DHCR7	11	71146770	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	64684659	71146770	63859746	55	18218											
C11orf67	28971	broad.mit.edu	37	chr11	77580777	77580777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacatccagcattctcctGgtgtgcagcctgcagatgtg	7	11	10	13	0	1	1	0	0	1	1	4	1	3	1	4	1	4	3	4	1	0	1	rs201315751		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:77580777G>A	ENST00000526415.1	+	4	315	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	AAMDC_ENST00000525034.1_Missense_Mutation_p.G67S|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000533193.1_Missense_Mutation_p.G94S|AAMDC_ENST00000393427.2_Missense_Mutation_p.G48S|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000527134.1_Missense_Mutation_p.G48S|AAMDC_ENST00000304716.8_Missense_Mutation_p.G48S|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000532481.1_Missense_Mutation_p.G48S			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	48	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											GCATTCTCCTGGTGTGCAGCC	0.458																																						uc001oyq.3																			0				stomach(2)	2						c.(142-144)Ggt>Agt		Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.							283	261	269					11																	77580777		2200	4292	6492	SO:0001583	missense	28971							g.chr11:77580777G>A	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.142G>A	11.37:g.77580777G>A	ENSP00000431808:p.Gly48Ser					C11orf67_uc001oyp.3_Missense_Mutation_p.G48S|C11orf67_uc001oyr.1_Missense_Mutation_p.G48S	p.G48S	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)		2	240	+	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		48					Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	c.142G>A	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900160	0.92035	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.54	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.966;0.961	D	0.88868	0.3331	10	0.87932	D	0	-12.9103	15.643	0.77020	0.0:0.0:0.8617:0.1383	.	48;48;48	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	S	48;48;48;48;48;94;67	ENSP00000433293:G48S;ENSP00000431808:G48S;ENSP00000377078:G48S;ENSP00000433281:G48S;ENSP00000307254:G48S;ENSP00000436086:G94S;ENSP00000432830:G67S	ENSP00000307254:G48S	G	+	1	0	C11orf67	77258425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.234000	0.89801	1.565000	0.49641	0.650000	0.86243	GGT		0.458	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		A	77580777	G	A	77580777	3	1	255	1	0	0	0	0	1	0	0	0	1657	1348	47	3	148	3	C11orf67	11	77580777	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6434007	77580777	57425739	56	18219											
ASAM	79827	broad.mit.edu	37	chr11	122945484	122945484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attagcagccacaccaagagGaaaatcagcagggctccagc	15	4	10	12	0	1	1	1	0	0	1	2	2	2	2	3	2	4	3	3	2	4	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:122945484G>A	ENST00000448775.2	-	6	1087	c.747C>T	c.(745-747)ttC>ttT	p.F249F	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	249					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ACACCAAGAGGAAAATCAGCA	0.443																																						uc001pyt.3																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(745-747)ttC>ttT		Homo sapiens CXADR-like membrane protein (CLMP), mRNA.							116	111	112					11																	122945484		2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122945484G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.747C>T	11.37:g.122945484G>A							p.F249F	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN			5	1106	-			249						Silent	SNP	ENST00000448775.2	37	c.747C>T	CCDS8441.1																																																																																				0.443	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		A	122945484	G	A	122945484	2	1	255	1	0	0	0	0	0	0	0	1	1009	1165	41	3		3	ASAM	11	122945484	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	45364707	122945484	12061032	57	18220											
NCAPD3	23310	broad.mit.edu	37	chr11	134048751	134048751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgaagccaggacggaCtgaatcagaaggaagatgcg	15	3	15	8	3	1	4	1	1	0	3	1	8	1	7	1	3	2	1	1	3	4	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:134048751C>T	ENST00000534548.2	-	21	2704	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	880					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCAGGACGGACTGAATCAGAA	0.468																																						uc001qhd.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2638-2640)caG>caA		Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.							110	96	101					11																	134048751		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048751C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2640G>A	11.37:g.134048751C>T						NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	p.Q880Q	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	20	3246	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	880					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2640G>A	CCDS31723.1																																																																																				0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134048751	C	T	134048751	2	4	255	1	0	0	0	0	0	0	0	1	10206	564	20	3		3	NCAPD3	11	134048751	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	11103267	134048751	957765	58	18221											
PLBD1	79887	broad.mit.edu	37	chr12	14695158	14695158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccataaaatcctgcaCtttatccatgatggaaggtt	12	13	7	9	0	0	1	0	1	0	0	3	2	3	2	3	2	2	3	3	2	5	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:14695158C>T	ENST00000240617.5	-	3	1055	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	135					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AAATCCTGCACTTTATCCATG	0.343																																						uc001rcc.1																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(403-405)Gtg>Atg		Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.							195	181	186					12																	14695158		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14695158C>T	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.403G>A	12.37:g.14695158C>T	ENSP00000240617:p.Val135Met						p.V135M	NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN			2	564	-			135					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.403G>A	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152703	0.57259	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.19394	2.15;2.15	6.02	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.86651	2.83	0.48341	D	0.999636	D	0.89917	1.0	D	0.79784	0.993	T	0.56529	-0.7964	10	0.72032	D	0.01	-24.0718	14.7497	0.69516	0.1439:0.8561:0.0:0.0	.	135	Q6P4A8	PLBL1_HUMAN	M	135;88	ENSP00000240617:V135M;ENSP00000438367:V88M	ENSP00000240617:V135M	V	-	1	0	PLBD1	14586425	1.000000	0.71417	0.985000	0.45067	0.269000	0.26545	2.443000	0.44881	2.865000	0.98341	0.655000	0.94253	GTG		0.343	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		T	14695158	C	T	14695158	3	4	255	1	0	0	0	0	1	0	0	0	12025	565	20	3	1294	3	PLBD1	12	14695158	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		14695158	119156737	59	18222											
ABCC9	10060	broad.mit.edu	37	chr12	21997449	21997449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attagtatcagctgaaaagcGattgagaatcagtcccaggg	14	9	11	7	1	2	2	2	2	0	1	3	4	3	2	1	1	2	2	1	1	5	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:21997449G>A	ENST00000261201.4	-	26	3282	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	ABCC9_ENST00000261200.4_Missense_Mutation_p.R1095C|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1059C|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1095	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCTGAAAAGCGATTGAGAATC	0.353																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3283-3285)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						103	111	109					12																	21997449		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997449G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3283C>T	12.37:g.21997449G>A	ENSP00000261201:p.Arg1095Cys					ABCC9_uc001rfi.1_Missense_Mutation_p.R1095C	p.R1095C	NM_020297	NP_064693	O60706	ABCC9_HUMAN			25	3303	-			1095			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3283C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162145	0.78226	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98763	1.0725	10	0.59425	D	0.04	-9.942	18.6123	0.91290	0.0:0.0:1.0:0.0	.	1095;1095	O60706;O60706-2	ABCC9_HUMAN;.	C	1095;722;1095;1059	ENSP00000261200:R1095C;ENSP00000440521:R722C;ENSP00000261201:R1095C;ENSP00000261202:R1059C	ENSP00000261200:R1095C	R	-	1	0	ABCC9	21888716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.375000	0.52410	2.634000	0.89283	0.650000	0.86243	CGC		0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21997449	G	A	21997449	3	1	255	1	0	0	0	0	1	0	0	0	59	1058	37	2	1560	2	ABCC9	12	21997449	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	7302291	21997449	111854446	60	18223											
PKP2	5318	broad.mit.edu	37	chr12	32977045	32977045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgagtcaatgagtccGtcacatcttctcatcgcttt	9	13	7	12	2	4	2	3	2	2	0	7	2	5	2	2	0	0	1	2	0	1	2	rs397517006		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:32977045G>A	ENST00000070846.6	-	8	1764	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	PKP2_ENST00000340811.4_Silent_p.D536D	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	580					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAATGAGTCCGTCACATCTTC	0.398																																						uc001rlj.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1738-1740)gaC>gaT		Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.							161	135	144					12																	32977045		2203	4300	6503	SO:0001819	synonymous_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32977045G>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1740C>T	12.37:g.32977045G>A						PKP2_uc001rlk.4_Silent_p.D536D|PKP2_uc010skj.2_Silent_p.D536D	p.D580D	NM_004572	NP_004563	Q99959	PKP2_HUMAN			7	1855	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		580					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	c.1740C>T	CCDS8731.1																																																																																				0.398	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		A	32977045	G	A	32977045	2	1	255	1	0	0	0	0	0	0	0	1	11985	1136	40	1		1	PKP2	12	32977045	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	10979596	32977045	100874850	61	18224											
GRIP1	23426	broad.mit.edu	37	chr12	66786464	66786464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcactactcaccatctgtCtgtttcttaattttcaaggt	9	18	4	10	0	6	0	3	0	3	0	6	0	6	0	1	1	1	1	1	1	3	6			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:66786464C>G	ENST00000398016.3	-	17	2174	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H	GRIP1_ENST00000286445.7_Missense_Mutation_p.Q754H|GRIP1_ENST00000359742.4_Missense_Mutation_p.Q754H|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACCATCTGTCTGTTTCTTAA	0.413																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2104-2106)caG>caC		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							150	140	143					12																	66786464		1877	4111	5988	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786464C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2106G>C	12.37:g.66786464C>G	ENSP00000381098:p.Gln702His					GRIP1_uc010sta.1_Missense_Mutation_p.Q646H|GRIP1_uc001stj.3_Missense_Mutation_p.Q484H|GRIP1_uc001stm.3_Missense_Mutation_p.Q702H|GRIP1_uc001stl.1_Missense_Mutation_p.Q594H	p.Q702H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	16	2347	-			754			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2106G>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.535943|2.535943	0.45176|0.45176	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53|.	4.71|4.71	2.89|2.89	0.33648|0.33648	PDZ/DHR/GLGF (3);|.	0.052477|.	0.85682|.	D|.	0.000000|.	T|T	0.57460|0.57460	0.2055|0.2055	L|L	0.52823|0.52823	1.66|1.66	0.48288|0.48288	D|D	0.99962|0.99962	D;D;D;D|.	0.65815|.	0.991;0.995;0.98;0.992|.	D;D;P;D|.	0.70016|.	0.944;0.94;0.891;0.967|.	T|T	0.51718|0.51718	-0.8670|-0.8670	9|5	.|.	.|.	.|.	-13.2467|-13.2467	8.1796|8.1796	0.31302|0.31302	0.0:0.6247:0.0:0.3753|0.0:0.6247:0.0:0.3753	.|.	702;754;702;754|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	H|T	702;754;754;702;646;594|569	ENSP00000381098:Q702H;ENSP00000352780:Q754H;ENSP00000286445:Q754H;ENSP00000446047:Q702H;ENSP00000446024:Q646H;ENSP00000446011:Q594H|.	.|.	Q|R	-|-	3|2	2|0	GRIP1|GRIP1	65072731|65072731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	0.933000|0.933000	0.28897|0.28897	0.729000|0.729000	0.32403|0.32403	-0.448000|-0.448000	0.05591|0.05591	CAG|AGA		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			G	66786464	C	G	66786464	3	3	255	1	0	0	0	0	1	0	0	0	6787	912	32	5	1156	5	GRIP1	12	66786464	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	33809419	66786464	67065431	62	18225											
USP30	84749	broad.mit.edu	37	chr12	109509449	109509449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattccatgtcattacctcGtcattggaagatgagcgaga	11	13	9	8	2	2	3	2	1	0	2	4	5	3	4	2	1	2	0	2	1	3	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:109509449G>A	ENST00000257548.5	+	5	606	c.513G>A	c.(511-513)tcG>tcA	p.S171S	USP30_ENST00000392784.2_Silent_p.S140S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	171	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATTACCTCGTCATTGGAAG	0.463																																						uc010sxi.2																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(511-513)tcG>tcA		Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.							131	109	116					12																	109509449		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109509449G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.513G>A	12.37:g.109509449G>A						USP30_uc001tnu.4_Silent_p.S140S	p.S171S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			4	617	+			171					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.513G>A	CCDS9123.2																																																																																				0.463	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		A	109509449	G	A	109509449	2	1	255	1	0	0	0	0	0	0	0	1	17058	1132	40	1		1	USP30	12	109509449	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	42722985	109509449	24342446	63	18226											
TMEM120B	144404	broad.mit.edu	37	chr12	122209423	122209423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatttatcagaagtttcGcaaccagttcttagcatttt	11	15	5	10	1	2	1	1	0	1	1	3	1	2	1	2	0	2	4	2	0	4	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:122209423G>A	ENST00000449592.2	+	8	748	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TMEM120B_ENST00000540377.1_Intron	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	216						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAGAAGTTTCGCAACCAGTTC	0.488																																						uc001ubc.4																			0		p.R216C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11						c.(646-648)cGc>cAc		Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.							206	183	190					12																	122209423		1867	4107	5974	SO:0001583	missense	144404					integral to membrane		g.chr12:122209423G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.647G>A	12.37:g.122209423G>A	ENSP00000404991:p.Arg216His					TMEM120B_uc009zxh.3_Missense_Mutation_p.R216H	p.R216H	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	7	791	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		216					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.647G>A	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491867	0.64074	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.35789	1.29;1.29	5.43	4.51	0.55191	.	0.049151	0.85682	D	0.000000	T	0.68851	0.3046	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78099	-0.2336	10	0.62326	D	0.03	-27.3826	14.8539	0.70319	0.0:0.1451:0.8549:0.0	.	216	A0PK00	T120B_HUMAN	H	216;195	ENSP00000404991:R216H;ENSP00000442105:R195H	ENSP00000345152:R216H	R	+	2	0	TMEM120B	120693806	1.000000	0.71417	0.803000	0.32268	0.229000	0.25112	9.608000	0.98331	1.241000	0.43820	0.514000	0.50259	CGC		0.488	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		A	122209423	G	A	122209423	3	1	255	1	0	0	0	0	1	0	0	0	16031	1087	38	1	677	1	TMEM120B	12	122209423	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	12699974	122209423	11642472	64	18227											
LAMP1	3916	broad.mit.edu	37	chr13	113964010	113964010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggtgctcaaccgcagctCctgtggaaaagagaacactt	12	8	11	10	1	1	1	1	0	0	1	2	3	2	2	2	2	4	3	2	2	4	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr13:113964010C>A	ENST00000332556.4	+	3	430	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	LAMP1_ENST00000397181.3_Missense_Mutation_p.S79Y	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	79	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AACCGCAGCTCCTGTGGAAAA	0.443																																						uc001vtm.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(235-237)tCc>tAc		Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.							111	114	113					13																	113964010		1967	4157	6124	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113964010C>A	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.236C>A	13.37:g.113964010C>A	ENSP00000333298:p.Ser79Tyr					LAMP1_uc010tka.1_Missense_Mutation_p.S79Y	p.S79Y	NM_005561	NP_005552	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		2	517	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	79			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.236C>A	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700192	0.30142	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.37058	1.38;1.22	5.15	3.31	0.37934	.	0.286398	0.34067	N	0.004295	T	0.60235	0.2253	M	0.86343	2.81	0.22156	N	0.999328	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.52510	-0.8566	10	0.87932	D	0	-14.6211	8.1066	0.30890	0.0:0.7288:0.1743:0.0969	.	79;79	B4DWL3;P11279	.;LAMP1_HUMAN	Y	79	ENSP00000333298:S79Y;ENSP00000415354:S79Y	ENSP00000333298:S79Y	S	+	2	0	LAMP1	113012011	0.095000	0.21747	0.720000	0.30636	0.136000	0.21042	0.335000	0.19806	1.165000	0.42670	0.557000	0.71058	TCC		0.443	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			A	113964010	C	A	113964010	3	1	255	1	0	0	0	0	1	0	0	0	8617	855	30	5	246	5	LAMP1	13	113964010	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		113964010	1205868	65	18228											
OR4K1	79544	broad.mit.edu	37	chr14	20404274	20404274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtctatttcctgggCggtgggcgttcttcattctg	2	19	12	8	2	4	0	1	0	3	0	5	0	5	0	1	3	0	1	1	3	1	7	rs368279248		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr14:20404274C>T	ENST00000285600.4	+	1	508	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCCTGGGCGGTGGGCGTT	0.463																																						uc001vwj.2																			0		p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(448-450)gCg>gTg		Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.		C	VAL/ALA	0,4406		0,0,2203	140	134	136		449	3.9	1	14		136	1,8599		0,1,4299	no	missense	OR4K1	NM_001004063.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	150/312	20404274	1,13005	2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404274C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.449C>T	14.37:g.20404274C>T	ENSP00000285600:p.Ala150Val						p.A150V	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	0	508	+	all_cancers(95;0.00108)		150					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.449C>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	5.687	0.311329	0.10789	0.0	1.16E-4	ENSG00000155249	ENST00000285600	T	0.35048	1.33	4.82	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.615477	0.15377	N	0.265542	T	0.12433	0.0302	N	0.01817	-0.705	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.13150	-1.0520	10	0.02654	T	1	.	11.1775	0.48607	0.0:0.9068:0.0:0.0932	.	150	Q8NGD4	OR4K1_HUMAN	V	150	ENSP00000285600:A150V	ENSP00000285600:A150V	A	+	2	0	OR4K1	19474114	0.003000	0.15002	0.980000	0.43619	0.778000	0.44026	1.613000	0.36900	2.487000	0.83934	0.563000	0.77884	GCG		0.463	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			T	20404274	C	T	20404274	3	4	255	1	0	0	0	0	1	0	0	0	11067	768	27	1	451	1	OR4K1	14	20404274	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		20404274	86945266	66	18229											
TGM5	9333	broad.mit.edu	37	chr15	43525396	43525396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttccagaatttataatGcaaagtctacataaacattc	15	14	5	7	0	1	1	0	0	1	1	3	1	2	1	1	0	3	3	1	0	7	8			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:43525396G>A	ENST00000220420.5	-	13	2163	c.2156C>T	c.(2155-2157)gCa>gTa	p.A719V	TGM5_ENST00000349114.4_Missense_Mutation_p.A637V	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	719					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTTATAATGCAAAGTCTAC	0.438																																						uc001zrd.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(2155-2157)gCa>gTa		Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	L-Glutamine(DB00130)						168	145	153					15																	43525396		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43525396G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2156C>T	15.37:g.43525396G>A	ENSP00000220420:p.Ala719Val					TGM5_uc001zrc.2_Missense_Mutation_p.A376V|TGM5_uc001zre.2_Missense_Mutation_p.A637V	p.A719V	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	12	2164	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	719					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.2156C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150597	0.57151	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.79141	-1.24;-1.22	6.03	3.02	0.34903	Transglutaminase, C-terminal (1);	0.618502	0.14920	N	0.290735	T	0.80014	0.4546	L	0.38175	1.15	0.09310	N	0.999999	D;D	0.69078	0.997;0.992	P;P	0.62014	0.897;0.701	T	0.69610	-0.5099	10	0.87932	D	0	-6.1009	10.6525	0.45657	0.1359:0.4376:0.4265:0.0	.	637;719	O43548-2;O43548	.;TGM5_HUMAN	V	719;637;718	ENSP00000220420:A719V;ENSP00000220419:A637V	ENSP00000220420:A719V	A	-	2	0	TGM5	41312688	0.000000	0.05858	0.186000	0.23195	0.622000	0.37654	-0.049000	0.11924	0.373000	0.24621	-0.165000	0.13383	GCA		0.438	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		A	43525396	G	A	43525396	3	1	255	1	0	0	0	0	1	0	0	0	15830	1319	46	3	10	3	TGM5	15	43525396	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		43525396	59005996	67	18230											
BTBD1	53339	broad.mit.edu	37	chr15	83725179	83725179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcattatctgccctaagatGtttggtgagaaattctacac	11	13	9	8	0	2	2	0	1	2	2	2	3	2	2	1	2	2	2	1	2	4	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:83725179G>A	ENST00000261721.4	-	2	722	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.H174Y|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	174					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.H174D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GCCCTAAGATGTTTGGTGAGA	0.363																																						uc002bjn.3																			1	Substitution - Missense(1)	p.H174D(2)	ovary(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(520-522)Cat>Tat		Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.							115	100	105					15																	83725179		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83725179G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.520C>T	15.37:g.83725179G>A	ENSP00000261721:p.His174Tyr					BTBD1_uc002bjo.3_Missense_Mutation_p.H174Y	p.H174Y	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	1	723	-			174					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.520C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441113	0.43326	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.67865	-0.29;-0.29	5.92	5.92	0.95590	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.29908	0.895	0.58432	D	0.999992	P;P	0.40553	0.721;0.721	P;P	0.49887	0.625;0.522	T	0.70296	-0.4911	10	0.66056	D	0.02	-20.3638	20.3172	0.98658	0.0:0.0:1.0:0.0	.	174;174	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	Y	174	ENSP00000261721:H174Y;ENSP00000368713:H174Y	ENSP00000261721:H174Y	H	-	1	0	BTBD1	81516183	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.020000	0.70826	2.801000	0.96364	0.650000	0.86243	CAT		0.363	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			A	83725179	G	A	83725179	3	1	255	1	0	0	0	0	1	0	0	0	1537	1377	48	3	956	3	BTBD1	15	83725179	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	40199783	83725179	18806213	68	18231											
PKD1	5310	broad.mit.edu	37	chr16	2155892	2155892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacggtgaccagggccaAcgagtactcgatgacgtgct	10	6	13	12	4	0	2	0	2	0	0	1	4	0	2	2	2	4	3	2	2	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000423118.1_Silent_p.L2613L|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1; unknown pathological significance). {ECO:0000269|PubMed:11571556}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657																																						uc002cos.1																			1	Substitution - coding silent(1)	p.L2613L(2)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7837-7839)Ttg>Ctg		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							46	45	45					16																	2155892		1400	2465	3865	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2155892A>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7837T>C	16.37:g.2155892A>G						TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L2613L|PKD1_uc010bse.1_5'Flank	p.L2613L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			19	8046	-			2613		Missing (in ADPKD1; could be a polymorphism).	REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7837T>C	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2155892	A	G	2155892	2	3	255	1	0	0	0	0	0	0	0	1	11963	40	2	4		4	PKD1	16	2155892	Silent	SNP	A	TCGA-74-6578-01A-11D-1845-08		2155892	88198861	69	18232											
DNAH3	55567	broad.mit.edu	37	chr16	20999316	20999316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagtcaacaatcgaacTgaaaatcttggttaaaatgt	15	11	8	7	1	2	1	1	1	1	0	3	2	2	1	1	1	3	1	1	1	7	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:20999316T>A	ENST00000261383.3	-	45	6672	c.6673A>T	c.(6673-6675)Agt>Tgt	p.S2225C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2225	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATCGAACTGAAAATCTTG	0.428																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6673-6675)Agt>Tgt		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							124	112	116					16																	20999316		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999316T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6673A>T	16.37:g.20999316T>A	ENSP00000261383:p.Ser2225Cys					DNAH3_uc010vbd.2_5'Flank	p.S2225C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	44	6673	-			2225			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6673A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882566	0.33255	.	.	ENSG00000158486	ENST00000261383	T	0.38560	1.13	5.09	2.76	0.32466	.	0.472911	0.21345	N	0.076072	T	0.46678	0.1405	M	0.92077	3.27	0.22701	N	0.998839	B	0.11235	0.004	B	0.18871	0.023	T	0.56177	-0.8022	10	0.72032	D	0.01	.	1.4907	0.02456	0.1415:0.1535:0.1474:0.5576	.	2225	Q8TD57	DYH3_HUMAN	C	2225	ENSP00000261383:S2225C	ENSP00000261383:S2225C	S	-	1	0	DNAH3	20906817	0.896000	0.30565	0.895000	0.35142	0.928000	0.56348	0.813000	0.27225	0.254000	0.21573	0.477000	0.44152	AGT		0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	20999316	T	A	20999316	3	1	255	1	0	0	0	0	1	0	0	0	4603	1580	55	5	5748	5	DNAH3	16	20999316	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	18843424	20999316	69355437	70	18233											
KCTD19	146212	broad.mit.edu	37	chr16	67327795	67327795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggcgggagggtctttggTttcagatttctgtgtgaggt	5	15	17	4	1	3	2	1	1	2	1	3	3	3	3	0	5	0	1	0	5	0	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:67327795T>C	ENST00000304372.5	-	12	1925	c.1870A>G	c.(1870-1872)Acc>Gcc	p.T624A		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	624					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGTCTTTGGTTTCAGATTTC	0.532																																						uc002esu.2																			0		p.E623K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1870-1872)Acc>Gcc		Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.							137	143	141					16																	67327795		1914	4130	6044	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327795T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1870A>G	16.37:g.67327795T>C	ENSP00000305702:p.Thr624Ala					KCTD19_uc002est.2_Missense_Mutation_p.T396A|KCTD19_uc010vjj.1_Missense_Mutation_p.T367A	p.T624A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	11	1921	-		Ovarian(137;0.192)	624					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1870A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694028	0.30052	.	.	ENSG00000168676	ENST00000304372	T	0.57595	0.39	5.63	2.18	0.27775	.	0.457877	0.20370	N	0.093666	T	0.28333	0.0700	N	0.12182	0.205	0.21604	N	0.999629	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	10	0.17369	T	0.5	-2.8457	7.1928	0.25834	0.0:0.2644:0.0:0.7356	.	624	Q17RG1	KCD19_HUMAN	A	624	ENSP00000305702:T624A	ENSP00000305702:T624A	T	-	1	0	KCTD19	65885296	0.979000	0.34478	0.980000	0.43619	0.961000	0.63080	0.680000	0.25306	0.106000	0.17784	0.459000	0.35465	ACC		0.532	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		C	67327795	T	C	67327795	3	2	255	1	0	0	0	0	1	0	0	0	8106	1725	60	4	930	4	KCTD19	16	67327795	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	46328479	67327795	23026958	71	18234											
SGSM2	9905	broad.mit.edu	37	chr17	2276367	2276367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcatgagcaagaaggagAtggagcaggtgaggggagcc	12	4	19	6	1	0	4	0	2	0	2	1	7	0	6	1	6	3	3	1	6	2	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:2276367A>G	ENST00000426855.2	+	15	1949	c.1774A>G	c.(1774-1776)Atg>Gtg	p.M592V	SGSM2_ENST00000574563.1_Missense_Mutation_p.M592V|SGSM2_ENST00000268989.3_Missense_Mutation_p.M637V|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	592	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAAGAAGGAGATGGAGCAGGT	0.617																																						uc002fum.4																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1909-1911)Atg>Gtg		Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.							50	39	43					17																	2276367		2202	4300	6502	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2276367A>G	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1774A>G	17.37:g.2276367A>G	ENSP00000415107:p.Met592Val					SGSM2_uc002fun.4_Missense_Mutation_p.M592V|SGSM2_uc010vqw.2_Missense_Mutation_p.M592V|SGSM2_uc002fuo.2_3'UTR	p.M637V	NM_014853	NP_055668	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	15	2086	+			592			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.1909A>G	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.285296	0.80803	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.03920	3.76;3.76	5.8	5.8	0.92144	Rab-GAP/TBC domain (3);	0.065535	0.85682	D	0.000000	T	0.18341	0.0440	M	0.66939	2.045	0.80722	D	1	D;D;P	0.58620	0.983;0.972;0.951	P;D;P	0.63381	0.793;0.914;0.512	T	0.00069	-1.2138	10	0.62326	D	0.03	-22.1157	15.3275	0.74179	1.0:0.0:0.0:0.0	.	592;592;637	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	V	637;592	ENSP00000268989:M637V;ENSP00000415107:M592V	ENSP00000268989:M637V	M	+	1	0	SGSM2	2223117	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.791000	0.69045	2.220000	0.72140	0.454000	0.30748	ATG		0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		G	2276367	A	G	2276367	3	3	255	1	0	0	0	0	1	0	0	0	14223	333	12	4	1971	4	SGSM2	17	2276367	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08		2276367	78918843	72	18235											
UNC45B	146862	broad.mit.edu	37	chr17	33491149	33491149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgctgtgacccggagcGcgatcacttccgcaagatct	7	8	11	15	5	2	2	1	1	1	1	3	4	3	3	3	1	2	2	3	1	1	1	rs143612410	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:33491149G>A	ENST00000268876.5	+	9	1212	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	UNC45B_ENST00000378449.1_Missense_Mutation_p.R372H|UNC45B_ENST00000394570.2_Missense_Mutation_p.R372H|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.R372H|UNC45B_ENST00000591048.1_Missense_Mutation_p.R372H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	372					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACCCGGAGCGCGATCACTTC	0.532													G|||	4	0.000798722	0	0	5008	,	,		20119	0		0	False		,,,				2504	0.0041					uc002hja.3																			0		p.R372C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1114-1116)cGc>cAc		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	178	168	172		1115,1115	4.4	0.2	17	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UNC45B	NM_001033576.1,NM_173167.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	372/930,372/932	33491149	1,13005	2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33491149G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1115G>A	17.37:g.33491149G>A	ENSP00000268876:p.Arg372His					UNC45B_uc002hjb.3_Missense_Mutation_p.R372H|UNC45B_uc002hjc.3_Missense_Mutation_p.R372H|UNC45B_uc010cto.3_Missense_Mutation_p.R372H	p.R372H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			8	1212	+		Ovarian(249;0.17)	372					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1115G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023359	0.93462	0.0	1.16E-4	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.69823	2.125	0.31261	N	0.692862	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.72327	-0.4327	10	0.72032	D	0.01	-18.5649	16.5352	0.84371	0.0:0.0:1.0:0.0	.	372;372;372	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	372	ENSP00000378071:R372H;ENSP00000268876:R372H;ENSP00000412840:R372H;ENSP00000367710:R372H	ENSP00000268876:R372H	R	+	2	0	UNC45B	30515262	1.000000	0.71417	0.166000	0.22797	0.949000	0.60115	9.573000	0.98181	2.461000	0.83175	0.462000	0.41574	CGC		0.532	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33491149	G	A	33491149	3	1	255	1	0	0	0	0	1	0	0	0	16986	1087	38	1	1145	1	UNC45B	17	33491149	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	31214782	33491149	47704061	73	18236											
KIF2B	84643	broad.mit.edu	37	chr17	51900723	51900723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggccatcagggaccagcGtaccgccacgaaatgggttg	9	7	13	12	4	1	0	1	0	0	0	2	2	1	1	4	3	2	2	4	3	2	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:51900723G>A	ENST00000268919.4	+	1	485	c.329G>A	c.(328-330)cGt>cAt	p.R110H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	110					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGACCAGCGTACCGCCACG	0.607																																						uc002iua.2																			0		p.R110C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(328-330)cGt>cAt		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							80	86	84					17																	51900723		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900723G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.329G>A	17.37:g.51900723G>A	ENSP00000268919:p.Arg110His					KIF2B_uc010wna.1_Non-coding_Transcript	p.R110H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	485	+			110					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.329G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	5.475	0.272626	0.10349	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74737	-0.87	5.11	0.918	0.19386	.	1.490870	0.04423	N	0.367975	T	0.42177	0.1191	N	0.01874	-0.695	0.09310	N	1	P	0.40000	0.698	B	0.27796	0.083	T	0.47169	-0.9138	10	0.59425	D	0.04	.	3.2961	0.06966	0.3234:0.0:0.4981:0.1785	.	110	Q8N4N8	KIF2B_HUMAN	H	110;33	ENSP00000268919:R110H	ENSP00000268919:R110H	R	+	2	0	KIF2B	49255722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.396000	0.20867	0.403000	0.25479	-0.152000	0.13540	CGT		0.607	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		A	51900723	G	A	51900723	3	1	255	1	0	0	0	0	1	0	0	0	8298	1145	40	1	331	1	KIF2B	17	51900723	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	18409574	51900723	29294487	74	18237											
ENPP7	339221	broad.mit.edu	37	chr17	77708908	77708908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggggtggctgtgacgCggagccggaaagaaggcatc	11	4	17	9	3	0	2	0	1	0	1	1	4	0	4	2	6	1	2	2	6	3	0	rs142610423		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:77708908C>T	ENST00000328313.5	+	3	687	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGTGACGCGGAGCCGGAA	0.592																																						uc002jxa.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(466-468)Cgg>Tgg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.		C	TRP/ARG	0,4406		0,0,2203	64	53	57		466	2.7	0.7	17	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPP7	NM_178543.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	156/459	77708908	1,13005	2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77708908C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.466C>T	17.37:g.77708908C>T	ENSP00000332656:p.Arg156Trp						p.R156W	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		2	486	+			156						Missense_Mutation	SNP	ENST00000328313.5	37	c.466C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919188	0.33908	0.0	1.16E-4	ENSG00000182156	ENST00000328313	T	0.73469	-0.75	5.0	2.73	0.32206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	2.764320	0.02234	N	0.065106	D	0.82756	0.5106	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	P	0.61658	0.892	T	0.61058	-0.7139	10	0.38643	T	0.18	-12.1788	7.9413	0.29961	0.25:0.4846:0.2653:0.0	.	156	Q6UWV6	ENPP7_HUMAN	W	156	ENSP00000332656:R156W	ENSP00000332656:R156W	R	+	1	2	ENPP7	75323503	0.000000	0.05858	0.683000	0.30040	0.182000	0.23217	0.318000	0.19504	1.028000	0.39785	0.591000	0.81541	CGG		0.592	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		T	77708908	C	T	77708908	3	4	255	1	0	0	0	0	1	0	0	0	5135	759	27	1	476	1	ENPP7	17	77708908	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	25808185	77708908	3486302	75	18238											
C17orf70	80233	broad.mit.edu	37	chr17	79516305	79516305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctctgtggtcatcctggCtgggccaggcatctcagagt	6	11	12	12	0	3	1	2	0	2	1	6	1	4	1	2	4	0	2	2	4	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:79516305C>G	ENST00000327787.8	-	4	1376	c.1330G>C	c.(1330-1332)Gcc>Ccc	p.A444P	C17orf70_ENST00000537152.1_Missense_Mutation_p.A293P|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	444					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCATCCTGGCTGGGCCAGGC	0.592																																						uc002kaq.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1330-1332)Gcc>Ccc		Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.							53	47	49					17																	79516305		2203	4300	6503	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79516305C>G	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1330G>C	17.37:g.79516305C>G	ENSP00000333283:p.Ala444Pro					C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.A293P	p.A444P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1403	-	all_neural(118;0.0878)|Melanoma(429;0.242)		444					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1330G>C	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993320	0.35131	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246	T;T	0.34072	1.38;1.39	5.04	-7.92	0.01160	.	0.963646	0.08480	N	0.939640	T	0.20495	0.0493	L	0.34521	1.04	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.23368	-1.0190	10	0.59425	D	0.04	.	5.6964	0.17857	0.2848:0.4862:0.0:0.229	.	444	Q0VG06	FP100_HUMAN	P	444;293;293	ENSP00000333283:A444P;ENSP00000440151:A293P	ENSP00000333283:A444P	A	-	1	0	C17orf70	77126747	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.033000	0.03571	-2.052000	0.00902	-0.319000	0.08680	GCC		0.592	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		G	79516305	C	G	79516305	3	3	255	1	0	0	0	0	1	0	0	0	1877	797	28	5	1339	5	C17orf70	17	79516305	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	1807397	79516305	1678905	76	18239											
ZNF556	80032	broad.mit.edu	37	chr19	2877392	2877392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgtactagtgtaagaCggtacgaatgcagtcagtgt	11	13	12	5	2	1	1	1	0	0	1	1	2	1	1	0	1	3	5	0	1	5	6	rs138176298	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:2877392C>T	ENST00000307635.2	+	4	523	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ZNF556_ENST00000586426.1_Missense_Mutation_p.R145W	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	146			R -> L (in dbSNP:rs35499960).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTGTAAGACGGTACGAATG	0.393													C|||	4	0.000798722	0	0.0014	5008	,	,		21531	0.002		0	False		,,,				2504	0.001					uc002lwp.1																			0		p.R146R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(436-438)Cgg>Tgg		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	145	127	133		436	-0.1	0	19	dbSNP_134	133	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ZNF556	NM_024967.1	101	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging	146/457	2877392	7,12999	2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877392C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.436C>T	19.37:g.2877392C>T	ENSP00000302603:p.Arg146Trp					ZNF556_uc002lwq.3_Missense_Mutation_p.R145W	p.R146W	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	523	+			146		R -> L (in dbSNP:rs35499960).			Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.436C>T	CCDS12097.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	12.22	1.873762	0.33069	4.54E-4	5.81E-4	ENSG00000172000	ENST00000307635	T	0.28666	1.6	2.27	-0.102	0.13613	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20780	0.0500	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.26430	-1.0103	9	0.87932	D	0	.	4.1278	0.10134	0.2263:0.6307:0.0:0.143	.	146	Q9HAH1	ZN556_HUMAN	W	146	ENSP00000302603:R146W	ENSP00000302603:R146W	R	+	1	2	ZNF556	2828392	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	2.441000	0.44864	-0.207000	0.10187	-1.884000	0.00543	CGG		0.393	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		T	2877392	C	T	2877392	3	4	255	1	0	0	0	0	1	0	0	0	17984	527	19	1	450	1	ZNF556	19	2877392	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		2877392	56251591	77	18240											
MUC16	94025	broad.mit.edu	37	chr19	9047753	9047753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactggtgactgtagaaGgcatagtgtctaattcactg	11	11	12	7	0	2	2	1	1	1	1	2	3	2	3	0	3	0	2	0	3	4	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:9047753G>A	ENST00000397910.4	-	5	34081	c.33878C>T	c.(33877-33879)cCt>cTt	p.P11293L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11295	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTAGAAGGCATAGTGTC	0.473																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33877-33879)cCt>cTt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							66	61	63					19																	9047753		1988	4163	6151	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047753G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33878C>T	19.37:g.9047753G>A	ENSP00000381008:p.Pro11293Leu						p.P11293L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34082	-			11295			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33878C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.430	0.447530	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	2.9	-0.725	0.11174	.	.	.	.	.	T	0.01976	0.0062	N	0.04959	-0.14	.	.	.	B	0.14438	0.01	B	0.10450	0.005	T	0.39396	-0.9616	8	0.87932	D	0	.	5.3084	0.15817	0.4963:0.0:0.5037:0.0	.	11293	B5ME49	.	L	11293	ENSP00000381008:P11293L	ENSP00000381008:P11293L	P	-	2	0	MUC16	8908753	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.917000	0.04025	-0.069000	0.12931	0.556000	0.70494	CCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9047753	G	A	9047753	3	1	255	1	0	0	0	0	1	0	0	0	9973	1000	35	3	9965	3	MUC16	19	9047753	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6170361	9047753	50081230	78	18241											
SLC1A6	6511	broad.mit.edu	37	chr19	15082585	15082585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgagaggtaacaccaGcatctgcagcatcctcatca	14	7	8	12	0	3	1	2	1	1	1	4	3	4	1	2	1	4	4	2	1	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:15082585G>T	ENST00000221742.3	-	2	314	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	SLC1A6_ENST00000600144.1_Missense_Mutation_p.L103M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.L103M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.L103M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.A107D	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	103					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGTAACACCAGCATCTGCAGC	0.567																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(307-309)Ctg>Atg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						141	120	127					19																	15082585		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15082585G>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.307C>A	19.37:g.15082585G>T	ENSP00000221742:p.Leu103Met					SLC1A6_uc010dzu.1_Missense_Mutation_p.L103M|SLC1A6_uc010xod.1_Missense_Mutation_p.A107D|SLC1A6_uc002nab.3_Missense_Mutation_p.L103M|SLC1A6_uc002nac.3_Missense_Mutation_p.L103M|SLC1A6_uc002nad.1_Missense_Mutation_p.L103M	p.L103M	NM_005071	NP_005062	P48664	EAA4_HUMAN			1	314	-			103					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.307C>A	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.005234|3.005234	0.54254|0.54254	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.71341|0.61859	-0.56|0.07;0.07	4.02|4.02	0.532|0.532	0.17114|0.17114	.|Sodium:dicarboxylate symporter, conserved site (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.66025|0.66025	0.2748|0.2748	M|M	0.64567|0.64567	1.98|1.98	0.45718|0.45718	D|D	0.998628|0.998628	B|D;D;P	0.23442|0.76494	0.085|0.999;0.999;0.538	B|D;D;P	0.17098|0.81914	0.017|0.991;0.995;0.525	T|T	0.61806|0.61806	-0.6987|-0.6987	9|10	0.20046|0.39692	T|T	0.44|0.17	-10.7274|-10.7274	7.2857|7.2857	0.26337|0.26337	0.3432:0.0:0.6568:0.0|0.3432:0.0:0.6568:0.0	.|.	107|103;104;103	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	D|M	107|103;103;104	ENSP00000409386:A107D|ENSP00000221742:L103M;ENSP00000446175:L103M	ENSP00000409386:A107D|ENSP00000221742:L103M	A|L	-|-	2|1	0|2	SLC1A6|SLC1A6	14943585|14943585	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	1.735000|1.735000	0.38176|0.38176	0.365000|0.365000	0.24400|0.24400	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15082585	G	T	15082585	3	4	255	1	0	0	0	0	1	0	0	0	14436	962	34	5	1419	5	SLC1A6	19	15082585	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6034832	15082585	44046398	79	18242											
CILP2	148113	broad.mit.edu	37	chr19	19655518	19655518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcaacgtggagatcCgggagcggcgcctgttcaat	7	8	17	9	4	1	1	1	0	0	1	2	3	2	2	2	5	2	2	2	5	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:19655518C>T	ENST00000291495.5	+	8	2249	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	CILP2_ENST00000586018.1_Missense_Mutation_p.R728W	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	722						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGGAGATCCGGGAGCGGCG	0.706																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2182-2184)Cgg>Tgg		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							11	13	12					19																	19655518		2187	4264	6451	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655518C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2164C>T	19.37:g.19655518C>T	ENSP00000291495:p.Arg722Trp					CILP2_uc002nmv.4_Missense_Mutation_p.R722W	p.R728W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2267	+			722					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2182C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049949	0.75846	.	.	ENSG00000160161	ENST00000291495	T	0.55413	0.52	4.89	4.89	0.63831	.	0.053328	0.64402	D	0.000001	T	0.68805	0.3041	L	0.58810	1.83	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.72418	-0.4300	10	0.87932	D	0	-26.945	15.6166	0.76773	0.0:1.0:0.0:0.0	.	722;722	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	W	722	ENSP00000291495:R722W	ENSP00000291495:R722W	R	+	1	2	CILP2	19516518	0.994000	0.37717	0.690000	0.30148	0.980000	0.70556	1.023000	0.30065	2.275000	0.75901	0.555000	0.69702	CGG		0.706	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19655518	C	T	19655518	3	4	255	1	0	0	0	0	1	0	0	0	3430	643	23	2	2194	2	CILP2	19	19655518	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	4572933	19655518	39473465	80	18243											
FGF21	26291	broad.mit.edu	37	chr19	49261318	49261318	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaccgggaccctgcAccccgaggaccagctcgctt	7	5	9	20	3	0	0	0	0	0	0	2	3	1	2	7	2	2	3	7	2	0	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.A157A			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682																																						uc002pkn.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(469-471)gcA>gcC		Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.							28	35	33					19																	49261318		2202	4298	6500	SO:0001819	synonymous_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261318A>C	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.471A>C	19.37:g.49261318A>C						FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.A157A	p.A157A	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	1043	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	157					Q8N683	Silent	SNP	ENST00000593756.1	37	c.471A>C	CCDS12734.1																																																																																				0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			C	49261318	A	C	49261318	2	2	255	1	0	0	0	0	0	0	0	1	5850	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-74-6578-01A-11D-1845-08	29605800	49261318	9867665	81	18244											
PTOV1	53635	broad.mit.edu	37	chr19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-																															tcaggcccagtccagatcgtCaacaacaagtttctggcatg																										TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:50360994_50360996delCAA	ENST00000601675.1	+	7	863_865	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_In_Frame_Del_p.N255del|PTOV1_ENST00000601638.1_In_Frame_Del_p.N223del|PTOV1_ENST00000599732.1_In_Frame_Del_p.N255del|AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000600603.1_In_Frame_Del_p.N223del|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000221557.9_In_Frame_Del_p.N223del|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	255	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616																																						uc002pqf.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(757-762)gtcaac>gtc		Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.				2,4262		1,0,2131						4	1			92	2,8252		0,2,4125	no	coding	PTOV1	NM_017432.3		1,2,6256	A1A1,A1R,RR		0.0242,0.0469,0.032				4,12514				SO:0001651	inframe_deletion	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50360994_50360996delCAA	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.759_761delCAA	19.37:g.50361000_50361002delCAA	ENSP00000472816:p.Asn255del					PTOV1_uc002pqb.4_In_Frame_Del_p.N223del|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	p.N255del	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	6	929_931	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	255			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	ENST00000601675.1	37	c.759_761delCAA	CCDS12782.1																																																																																				0.616	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		-	50360996	CAA	-	50360994	7	5	255	1	0	1	0	1	0	0	0	0	12769	813	29	0	785	0	PTOV1	19	50360994	In_Frame_Del	DEL	CAA	TCGA-74-6578-01A-11D-1845-08	1099676	50360994	8767989	82	18245											
LILRB5	10990	broad.mit.edu	37	chr19	54758761	54758761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactttgactttagacacagCgggggatgggctgccccctc	7	10	12	12	1	0	2	0	1	0	1	1	3	0	3	2	3	3	1	2	3	2	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:54758761C>T	ENST00000316219.5	-	6	1199	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	LILRB5_ENST00000449561.2_Silent_p.P364P|LILRB5_ENST00000450632.1_Silent_p.P355P|LILRB5_ENST00000345866.6_Silent_p.P264P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	364	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547																																						uc010yer.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1063-1065)ccG>ccA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.							74	73	73					19																	54758761		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758761C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1092G>A	19.37:g.54758761C>T						LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P364P|LILRB5_uc002qez.3_Silent_p.P264P|LILRB5_uc002qex.3_Silent_p.P364P|LILRB5_uc002qfa.1_Silent_p.P254P|LILRB5_uc010yes.1_Non-coding_Transcript	p.P355P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1176	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		364	L -> S (in Ref. 2; BAB71361).		Ig-like C2-type 4.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1065G>A	CCDS12885.1																																																																																				0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54758761	C	T	54758761	2	4	255	1	0	0	0	0	0	0	0	1	8794	755	27	1		1	LILRB5	19	54758761	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	4397767	54758761	4370222	83	18246											
TNNT1	7138	broad.mit.edu	37	chr19	55648558	55648558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcccgccccgtctgcCgcttaccacgcttctgttct	3	13	6	19	4	5	0	1	0	4	0	6	0	5	0	5	0	2	3	5	0	1	3	rs376309451		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:55648558C>T	ENST00000588981.1	-	11	728	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000587465.2_Missense_Mutation_p.R105Q|TNNT1_ENST00000588426.1_Missense_Mutation_p.R72Q|TNNT1_ENST00000587758.1_Missense_Mutation_p.R164Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R164Q|TNNT1_ENST00000585321.2_Missense_Mutation_p.R105Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R164Q|TNNT1_ENST00000291901.8_Missense_Mutation_p.R175Q	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	175					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCCCGTCTGCCGCTTACCACG	0.627																																						uc002qjb.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(523-525)cGg>cAg		Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	66	49	55		524,491,524	4.2	1	19		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TNNT1	NM_001126132.1,NM_001126133.1,NM_003283.4	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/263,164/252,175/279	55648558	1,13005	2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55648558C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.524G>A	19.37:g.55648558C>T	ENSP00000467176:p.Arg175Gln					TNNT1_uc002qjc.4_Missense_Mutation_p.R175Q|TNNT1_uc002qje.4_Missense_Mutation_p.R164Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R164Q	p.R175Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	10	613	-			175					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.524G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120364	0.77323	0.0	1.16E-4	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693	D;D;D	0.94497	-3.44;-3.44;-3.44	4.15	4.15	0.48705	.	0.150605	0.42294	D	0.000722	D	0.95962	0.8685	M	0.85542	2.76	0.42202	D	0.991773	D;D;D;D	0.69078	0.993;0.997;0.994;0.993	P;P;P;P	0.57009	0.576;0.771;0.811;0.576	D	0.95876	0.8895	10	0.87932	D	0	-13.6842	8.2282	0.31582	0.0:0.8879:0.0:0.1121	.	164;175;175;164	P13805-2;P13805-3;P13805;F5H1H4	.;.;TNNT1_HUMAN;.	Q	175;164;164;105	ENSP00000291901:R175Q;ENSP00000349233:R164Q;ENSP00000439640:R164Q	ENSP00000291901:R175Q	R	-	2	0	TNNT1	60340370	0.816000	0.29132	0.996000	0.52242	0.824000	0.46624	1.439000	0.35013	2.047000	0.60756	0.484000	0.47621	CGG		0.627	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		T	55648558	C	T	55648558	3	4	255	1	0	0	0	0	1	0	0	0	16327	652	23	2	328	2	TNNT1	19	55648558	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	889797	55648558	3480425	84	18247											
SNRPB2	6629	broad.mit.edu	37	chr20	16721056	16721056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttatccatgctgtttaaTcagtaagttttttcataaat	12	19	5	5	0	2	0	2	0	0	0	3	0	3	0	1	0	1	5	1	0	5	8			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:16721056T>C	ENST00000246071.6	+	6	732	c.516T>C	c.(514-516)aaT>aaC	p.N172N	SNRPB2_ENST00000377943.5_Silent_p.N172N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						TGCTGTTTAATCAGTAAGTTT	0.348																																						uc002wph.2																			0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.(514-516)aaT>aaC		Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.							101	102	101					20																	16721056		2201	4300	6501	SO:0001819	synonymous_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16721056T>C		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"RNA binding motif (RRM) containing"	11155	protein-coding gene	gene with protein product		603520	"small nuclear ribonucleoprotein polypeptide B2", "small nuclear ribonucleoprotein polypeptide B''"			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.516T>C	20.37:g.16721056T>C						SNRPB2_uc002wpi.2_Silent_p.N172N	p.N172N	NM_003092	NP_937863	P08579	RU2B_HUMAN			5	752	+			172			RRM 2.		B2R7J3|D3DW21|Q9UJD4	Silent	SNP	ENST00000246071.6	37	c.516T>C	CCDS13123.1																																																																																				0.348	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		C	16721056	T	C	16721056	2	2	255	1	0	0	0	0	0	0	0	1	14862	1432	50	4		4	SNRPB2	20	16721056	Silent	SNP	T	TCGA-74-6578-01A-11D-1845-08		16721056	46304464	85	18248											
NKX2-4	644524	broad.mit.edu	37	chr20	21377636	21377636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggttggcgccgtaccagccGgtggccgcgccgccccgcat	3	5	16	17	7	0	0	0	0	0	0	0	0	0	0	7	4	2	3	7	4	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:21377636G>A	ENST00000351817.4	-	1	1030	c.402C>T	c.(400-402)acC>acT	p.T134T	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	134					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CGTACCAGCCGGTGGCCGCGC	0.736																																						uc010gcz.3																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(400-402)acC>acT		Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.							3	4	3					20																	21377636		1392	3254	4646	SO:0001819	synonymous_variant	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21377636G>A		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.402C>T	20.37:g.21377636G>A							p.T134T	NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN			0	412	-			134					Q5VZV8	Silent	SNP	ENST00000351817.4	37	c.402C>T	CCDS42855.1																																																																																				0.736	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			A	21377636	G	A	21377636	2	1	255	1	0	0	0	0	0	0	0	1	10452	1103	39	2		2	NKX2-4	20	21377636	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	4656580	21377636	41647884	86	18249											
CST9	128822	broad.mit.edu	37	chr20	23584188	23584188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctttgtcagctgctcCtgtgcccacaccacacccca	8	9	7	17	0	1	0	1	0	0	0	2	0	2	0	5	1	3	3	5	1	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:23584188C>T	ENST00000376971.3	-	2	450	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	147						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TCAGCTGCTCCTGTGCCCACA	0.577																																						uc002wtl.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(439-441)Gga>Aga		Homo sapiens cystatin 9 (testatin) (CST9), mRNA.							146	107	120					20																	23584188		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23584188C>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.439G>A	20.37:g.23584188C>T	ENSP00000366170:p.Gly147Arg						p.G147R	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			1	548	-	Colorectal(13;0.0993)		147					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.439G>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723652	0.30593	.	.	ENSG00000173335	ENST00000376971	D	0.89875	-2.58	1.85	-1.5	0.08691	.	2.328760	0.02505	N	0.090949	T	0.72301	0.3443	N	0.08118	0	0.09310	N	1	P	0.41597	0.756	B	0.25506	0.061	T	0.68845	-0.5301	10	0.66056	D	0.02	.	5.1188	0.14849	0.0:0.4071:0.0:0.5929	.	147	Q5W186	CST9_HUMAN	R	147	ENSP00000366170:G147R	ENSP00000366170:G147R	G	-	1	0	CST9	23532188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.066000	0.14489	-0.412000	0.07519	-0.291000	0.09656	GGA		0.577	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		T	23584188	C	T	23584188	3	4	255	1	0	0	0	0	1	0	0	0	3979	690	24	3	44	3	CST9	20	23584188	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	2206552	23584188	39441332	87	18250											
TPTE	7179	broad.mit.edu	37	chr21	10906911	10906911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggagctatacttaatcGgatccagctacaacatcact	13	9	9	10	1	1	0	1	0	0	0	3	2	2	2	1	3	5	2	1	3	5	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr21:10906911G>A	ENST00000361285.4	-	24	1979	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_ENST00000298232.7_Silent_p.S532S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.S512S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	550					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398																																						uc002yip.1																			2	Substitution - coding silent(2)	p.S550S(1)|p.S532S(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1648-1650)tcC>tcT		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							129	114	119					21																	10906911		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906911G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1650C>T	21.37:g.10906911G>A						TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.S532S|TPTE_uc002yir.1_Silent_p.S512S|TPTE_uc010gkv.1_Silent_p.S412S	p.S550S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	2018	-			550					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1650C>T	CCDS13560.2																																																																																				0.398	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10906911	G	A	10906911	2	1	255	1	0	0	0	0	0	0	0	1	16427	1103	39	2		2	TPTE	21	10906911	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		10906911	37222984	88	18251											
CELSR1	9620	broad.mit.edu	37	chr22	46932243	46932243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcacgcgctcctcctcGccctcgatggtgtagtgcgc	4	10	11	16	5	1	0	1	0	0	0	5	1	3	0	3	1	2	3	3	1	2	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr22:46932243G>A	ENST00000262738.3	-	1	824	c.825C>T	c.(823-825)ggC>ggT	p.G275G	CELSR1_ENST00000395964.1_Silent_p.G275G|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	275	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTCCTCCTCGCCCTCGATGG	0.632																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(823-825)ggC>ggT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							51	47	48					22																	46932243		2202	4299	6501	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46932243G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.825C>T	22.37:g.46932243G>A							p.G275G	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	0	825	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	275			Cadherin 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.825C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46932243	G	A	46932243	2	1	255	1	0	0	0	0	0	0	0	1	3221	1074	38	1		1	CELSR1	22	46932243	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		46932243	4372323	89	18252											
DACH2	117154	broad.mit.edu	37	chrX	86068163	86068163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttgctttggataatgctCgcatccaggagaagcagatt	12	11	11	7	1	0	2	0	0	0	2	2	4	1	3	1	2	3	5	1	2	3	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:86068163C>T	ENST00000373125.4	+	9	1420	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	DACH2_ENST00000510272.1_Missense_Mutation_p.R255C|DACH2_ENST00000373131.1_Missense_Mutation_p.R461C|DACH2_ENST00000508860.1_Missense_Mutation_p.R307C	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	474	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGATAATGCTCGCATCCAGGA	0.373																																						uc004eew.2																			0		p.A473T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1420-1422)Cgc>Tgc		Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.							34	33	33					X																	86068163		2202	4299	6501	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068163C>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1420C>T	X.37:g.86068163C>T	ENSP00000362217:p.Arg474Cys					DACH2_uc004eex.2_Missense_Mutation_p.R461C|DACH2_uc010nmq.2_Missense_Mutation_p.R340C|DACH2_uc011mra.1_Missense_Mutation_p.R307C|DACH2_uc010nmr.2_Missense_Mutation_p.R255C|DACH2_uc004eey.3_Missense_Mutation_p.R167C|DACH2_uc004eez.3_Missense_Mutation_p.R157C	p.R474C	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN			8	1590	+			474			DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1420C>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506493	0.64410	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.90955	-2.71;-2.76	5.19	4.26	0.50523	.	0.076052	0.49916	D	0.000135	D	0.94265	0.8158	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;D;P;P	0.68353	0.957;0.931;0.781;0.817	D	0.94633	0.7823	10	0.87932	D	0	.	11.9568	0.52986	0.325:0.675:0.0:0.0	.	340;474;461;474	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	C	474;461;474;307;255;307;139	ENSP00000362223:R461C;ENSP00000362217:R474C	ENSP00000345134:R474C	R	+	1	0	DACH2	85954819	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	2.831000	0.48144	2.145000	0.66743	0.513000	0.50165	CGC		0.373	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	86068163	C	T	86068163	3	4	255	1	0	0	0	0	1	0	0	0	4221	884	31	2	1454	2	DACH2	23	86068163	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		86068163	69202397	90	18253											
SLC6A14	11254	broad.mit.edu	37	chrX	115588823	115588823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatagacctaattatggcGcaattccataccctgactgg	11	12	7	11	1	1	2	1	1	0	1	2	2	2	2	3	2	1	1	3	2	5	6			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:115588823G>A	ENST00000371900.4	+	13	1751	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	555					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAATTATGGCGCAATTCCATA	0.358																																						uc004eqi.3																			0		p.G554G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1663-1665)Gca>Aca		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						190	167	175					X																	115588823		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115588823G>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1663G>A	X.37:g.115588823G>A	ENSP00000360967:p.Ala555Thr						p.A555T	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			12	1794	+			555					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1663G>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	2.488	-0.318061	0.05386	.	.	ENSG00000087916	ENST00000371900	T	0.74209	-0.82	5.17	-8.5	0.00927	.	2.897090	0.00678	N	0.000663	T	0.49525	0.1562	N	0.05574	-0.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	10	0.20519	T	0.43	.	8.0775	0.30724	0.2466:0.3495:0.4039:0.0	.	555	Q9UN76	S6A14_HUMAN	T	555	ENSP00000360967:A555T	ENSP00000360967:A555T	A	+	1	0	SLC6A14	115502851	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-1.216000	0.02982	-2.410000	0.00572	-1.336000	0.01259	GCA		0.358	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			A	115588823	G	A	115588823	3	1	255	1	0	0	0	0	1	0	0	0	14677	1087	38	1	1713	1	SLC6A14	23	115588823	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	29520660	115588823	39681737	91	18254											
CCDC27	148870	broad.mit.edu	37	chr1	3687985	3687985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattatctcagagagaagCgactactataatcagctgaa	17	9	8	7	1	2	4	2	1	1	3	3	6	2	4	0	0	3	1	0	0	7	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:3687985C>T	ENST00000294600.2	+	12	1953	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SMIM1_ENST00000561886.1_5'Flank|SMIM1_ENST00000444870.2_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	623										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGAGAGAAGCGACTACTATA	0.547																																						uc001akv.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1867-1869)agC>agT		Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.							107	121	116					1																	3687985		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3687985C>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1869C>T	1.37:g.3687985C>T						LOC388588_uc001akw.4_5'Flank	p.S623S	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	11	1950	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	623					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1869C>T	CCDS50.1																																																																																				0.547	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		T	3687985	C	T	3687985	2	4	256	1	0	0	0	0	0	0	0	1	2801	767	27	1		1	CCDC27	1	3687985	Silent	SNP	C	TCGA-74-6584-01A-11D-1845-08		3687985	245562636	1	18255											
TINAGL1	64129	broad.mit.edu	37	chr1	32049166	32049166	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcggtcatgaacatgcAtgaaatttatgtaagtccat	12	14	7	8	1	1	2	1	2	0	0	4	2	3	2	2	1	2	2	2	1	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:32049166A>C	ENST00000271064.7	+	5	648	c.572A>C	c.(571-573)cAt>cCt	p.H191P	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.H160P	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	191					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ATGAACATGCATGAAATTTAT	0.592																																						uc001bta.3																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(571-573)cAt>cCt		Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.							124	94	104					1																	32049166		2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32049166A>C	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.572A>C	1.37:g.32049166A>C	ENSP00000271064:p.His191Pro					TINAGL1_uc010ogj.2_Missense_Mutation_p.H160P|TINAGL1_uc010ogk.1_Missense_Mutation_p.H191P|TINAGL1_uc021oko.1_Missense_Mutation_p.H86P	p.H191P	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	4	698	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	191					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.572A>C	CCDS343.1	.	.	.	.	.	.	.	.	.	.	a	12.28	1.891416	0.33442	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.83419	-1.72;-1.72	4.27	4.27	0.50696	.	0.221354	0.44688	D	0.000436	T	0.67795	0.2931	N	0.14661	0.345	0.80722	D	1	B;B	0.28971	0.001;0.229	B;B	0.22601	0.0;0.04	T	0.65730	-0.6097	10	0.27082	T	0.32	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	160;191	B4DPK6;Q9GZM7	.;TINAL_HUMAN	P	160;191;179	ENSP00000395137:H160P;ENSP00000271064:H191P	ENSP00000271064:H191P	H	+	2	0	TINAGL1	31821753	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	6.938000	0.75904	1.923000	0.55706	0.383000	0.25322	CAT		0.592	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		C	32049166	A	C	32049166	3	2	256	1	0	0	0	0	1	0	0	0	15919	217	8	5	586	5	TINAGL1	1	32049166	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	28361181	32049166	217201455	2	18256											
RORC	6097	broad.mit.edu	37	chr1	151789175	151789175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgccaggcatttctgcAggcggcagtgctggcatcgg	6	7	15	13	3	1	0	0	0	1	0	2	0	1	0	2	5	3	5	2	5	0	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:151789175A>G	ENST00000318247.6	-	4	370	c.263T>C	c.(262-264)cTg>cCg	p.L88P	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Missense_Mutation_p.L67P|RORC_ENST00000392697.3_Missense_Mutation_p.L142P	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	88					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATTTCTGCAGGCGGCAGTG	0.662																																						uc001ezh.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(262-264)cTg>cCg		Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.							32	29	30					1																	151789175		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151789175A>G	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.263T>C	1.37:g.151789175A>G	ENSP00000327025:p.Leu88Pro					RORC_uc001ezg.3_Missense_Mutation_p.L67P|RORC_uc010pdo.2_Missense_Mutation_p.L142P|RORC_uc010pdp.2_Missense_Mutation_p.L88P	p.L88P	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	371	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		88					Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.263T>C	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586611	0.86851	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.98135	-4.74;-4.74;-4.74	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.49916	U	0.000121	D	0.99177	0.9715	H	0.97983	4.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99010	1.0814	10	0.87932	D	0	.	13.1028	0.59231	1.0:0.0:0.0:0.0	.	88;142;88;67	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	P	67;142;88	ENSP00000349164:L67P;ENSP00000376461:L142P;ENSP00000327025:L88P	ENSP00000327025:L88P	L	-	2	0	RORC	150055799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.334000	0.96470	1.973000	0.57446	0.460000	0.39030	CTG		0.662	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			G	151789175	A	G	151789175	3	3	256	1	0	0	0	0	1	0	0	0	13530	188	7	4	1325	4	RORC	1	151789175	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	119740009	151789175	97461446	3	18257											
HRNR	388697	broad.mit.edu	37	chr1	152185788	152185788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagacccgtgtcggcCgtggctaagagactggccag	9	6	14	12	3	0	3	0	1	0	2	1	4	0	3	4	3	1	1	4	3	2	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:152185788C>T	ENST00000368801.2	-	3	8392	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2773					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTCGGCCGTGGCTAAGA	0.602																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(8317-8319)Ggc>Agc		Homo sapiens hornerin (HRNR), mRNA.							65	40	49					1																	152185788		2153	4024	6177	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152185788C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8317G>A	1.37:g.152185788C>T	ENSP00000357791:p.Gly2773Ser						p.G2773S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8393	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2773					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.8317G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.181	1.023480	0.19433	.	.	ENSG00000197915	ENST00000368801	T	0.01599	4.74	3.69	-2.41	0.06562	.	.	.	.	.	T	0.00210	0.0006	N	0.04880	-0.145	0.09310	N	1	B	0.24882	0.113	B	0.13407	0.009	T	0.41484	-0.9506	9	0.06099	T	0.92	.	2.0797	0.03632	0.1405:0.3967:0.2765:0.1864	.	2773	Q86YZ3	HORN_HUMAN	S	2773	ENSP00000357791:G2773S	ENSP00000357791:G2773S	G	-	1	0	HRNR	150452412	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.279000	0.00529	-0.304000	0.08843	-0.291000	0.09656	GGC		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152185788	C	T	152185788	3	4	256	1	0	0	0	0	1	0	0	0	7359	652	23	2	239	2	HRNR	1	152185788	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	396613	152185788	97064833	4	18258											
CEP350	9857	broad.mit.edu	37	chr1	180062525	180062525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacaagtggagccactagcTttggtagtaatgaggaaatc	13	10	11	7	0	0	1	0	1	0	0	1	3	0	3	1	3	3	3	1	3	6	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:180062525T>A	ENST00000367607.3	+	34	7703	c.7285T>A	c.(7285-7287)Ttt>Att	p.F2429I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2429					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCACTAGCTTTGGTAGTAA	0.453																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7285-7287)Ttt>Att		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							37	32	34					1																	180062525		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180062525T>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7285T>A	1.37:g.180062525T>A	ENSP00000356579:p.Phe2429Ile					CEP350_uc009wxl.2_Missense_Mutation_p.F2428I|CEP350_uc001gnv.3_Missense_Mutation_p.F564I|CEP350_uc001gnw.1_Missense_Mutation_p.F186I|CEP350_uc001gnx.1_Missense_Mutation_p.F186I	p.F2429I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			33	7668	+			2429					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7285T>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.801|8.801	0.932876|0.932876	0.18131|0.18131	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.56444|.	0.46|.	5.8|5.8	4.67|4.67	0.58626|0.58626	.|.	0.137099|.	0.33553|.	N|.	0.004799|.	T|T	0.42063|0.42063	0.1186|0.1186	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	B;B|.	0.28713|.	0.22;0.049|.	B;B|.	0.21151|.	0.033;0.014|.	T|T	0.41215|0.41215	-0.9521|-0.9521	9|5	.|.	.|.	.|.	.|.	3.9133|3.9133	0.09213|0.09213	0.1553:0.1699:0.0:0.6748|0.1553:0.1699:0.0:0.6748	.|.	2429;2429|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	I|H	2429|603	ENSP00000356579:F2429I|.	.|.	F|L	+|+	1|2	0|0	CEP350|CEP350	178329148|178329148	0.001000|0.001000	0.12720|0.12720	0.247000|0.247000	0.24249|0.24249	0.480000|0.480000	0.33159|0.33159	0.904000|0.904000	0.28491|0.28491	1.007000|1.007000	0.39238|0.39238	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.453	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		A	180062525	T	A	180062525	3	1	256	1	0	0	0	0	1	0	0	0	3254	1609	56	5	7415	5	CEP350	1	180062525	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	27876737	180062525	69188096	5	18259											
ADCY3	109	broad.mit.edu	37	chr2	25044464	25044464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggccagcgcgaagtcggCcaggtcagccaggtgctgcc	7	5	15	14	3	1	0	1	0	0	0	2	1	1	0	4	4	4	1	4	4	1	0			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:25044464C>T	ENST00000260600.5	-	19	3900	c.3049G>A	c.(3049-3051)Gcc>Acc	p.A1017T	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.A604T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1017					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCGAAGTCGGCCAGGTCAGCC	0.607																																						uc010ykm.2																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3052-3054)Gcc>Acc		Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.							161	149	153					2																	25044464		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25044464C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3049G>A	2.37:g.25044464C>T	ENSP00000260600:p.Ala1017Thr					CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604T|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017T	p.A1018T	NM_004036	NP_004027	O60266	ADCY3_HUMAN			18	3251	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1017					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.3052G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	37	5.995401	0.97184	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.32753	1.44;1.44	5.91	5.91	0.95273	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.71206	2.165	0.80722	D	1	P;D;P	0.61080	0.884;0.989;0.888	P;D;P	0.68765	0.874;0.96;0.517	T	0.54728	-0.8250	10	0.56958	D	0.05	.	19.8914	0.96931	0.0:1.0:0.0:0.0	.	1018;1017;604	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	1017;604;992	ENSP00000260600:A1017T;ENSP00000384484:A604T	ENSP00000260600:A1017T	A	-	1	0	ADCY3	24897968	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.806000	0.86020	2.813000	0.96785	0.655000	0.94253	GCC		0.607	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			T	25044464	C	T	25044464	3	4	256	1	0	0	0	0	1	0	0	0	295	739	26	3	397	3	ADCY3	2	25044464	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		25044464	218154909	6	18260											
C2orf55	343990	broad.mit.edu	37	chr2	99438371	99438371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcctgggctccttcctggGttcccgctctcccgggccgg	0	10	13	18	4	1	0	0	0	1	0	6	0	5	0	6	4	0	3	6	4	0	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:99438371G>T	ENST00000397899.2	-	7	2696	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	789	Pro-rich.																TCCTTCCTGGGTTCCCGCTCT	0.736																																						uc002szf.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(2365-2367)Ccc>Acc		Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.							12	13	13					2																	99438371		1832	4087	5919	SO:0001583	missense	343990							g.chr2:99438371G>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2365C>A	2.37:g.99438371G>T	ENSP00000380996:p.Pro789Thr						p.P789T	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			6	2659	-			789			Pro-rich.			Missense_Mutation	SNP	ENST00000397899.2	37	c.2365C>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006009	0.35415	.	.	ENSG00000196872	ENST00000397899	T	0.48201	0.82	4.76	-2.58	0.06228	.	1.378930	0.04702	N	0.416099	T	0.60038	0.2238	M	0.61703	1.905	0.09310	N	0.999999	D	0.76494	0.999	D	0.70016	0.967	T	0.53315	-0.8456	10	0.52906	T	0.07	-0.7826	4.9496	0.14008	0.3756:0.2733:0.3511:0.0	.	789	Q6NV74	CB055_HUMAN	T	789	ENSP00000380996:P789T	ENSP00000380996:P789T	P	-	1	0	C2orf55	98804803	0.829000	0.29322	0.049000	0.19019	0.007000	0.05969	0.485000	0.22324	-0.402000	0.07633	-0.311000	0.09066	CCC		0.736	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		T	99438371	G	T	99438371	3	4	256	1	0	0	0	0	1	0	0	0	2176	1261	44	5	539	5	C2orf55	2	99438371	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	74393907	99438371	143761002	7	18261											
BOLL	66037	broad.mit.edu	37	chr2	198643759	198643759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttcacagacccatactggGaaaaaaattttcttaaatca	16	12	4	9	0	3	1	2	0	1	1	3	2	3	2	1	1	1	0	1	1	6	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:198643759G>A	ENST00000392296.4	-	3	470	c.161C>T	c.(160-162)tCc>tTc	p.S54F	BOLL_ENST00000321801.7_Missense_Mutation_p.S66F|BOLL_ENST00000430004.1_Missense_Mutation_p.S54F|BOLL_ENST00000433157.1_Missense_Mutation_p.S54F|BOLL_ENST00000282278.8_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318																																						uc002uuu.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(178-180)tCc>tTc		Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.							80	83	82					2																	198643759		2202	4298	6500	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198643759G>A		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.161C>T	2.37:g.198643759G>A	ENSP00000376116:p.Ser54Phe					BOLL_uc002uur.2_Missense_Mutation_p.S60F|BOLL_uc002uus.2_Missense_Mutation_p.S54F|BOLL_uc002uut.2_Missense_Mutation_p.S66F|BOLL_uc010zha.1_5'UTR	p.S60F	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			2	558	-			54			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.179C>T	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477192	0.84640	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.151395	0.44483	D	0.000442	D	0.92221	0.7533	M	0.85945	2.785	0.80722	D	1	D;P;P;P	0.55800	0.973;0.654;0.881;0.699	P;P;P;P	0.59948	0.847;0.632;0.866;0.694	D	0.93157	0.6554	10	0.72032	D	0.01	-21.3924	17.1304	0.86725	0.0:0.0:1.0:0.0	.	60;66;54;60	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	F	54;54;66;54	ENSP00000397711:S54F;ENSP00000376116:S54F;ENSP00000314792:S66F;ENSP00000396099:S54F	ENSP00000314792:S66F	S	-	2	0	BOLL	198352004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.927000	0.75840	2.585000	0.87301	0.555000	0.69702	TCC		0.318	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		A	198643759	G	A	198643759	3	1	256	1	0	0	0	0	1	0	0	0	1487	1174	41	3	726	3	BOLL	2	198643759	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	99205388	198643759	44555614	8	18262											
OR5AC2	81050	broad.mit.edu	37	chr3	97806212	97806212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgtacttattccttGgtggtttagccttttcagat	6	18	8	9	0	1	1	1	0	0	1	2	1	2	1	3	2	3	2	3	2	3	8			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:97806212G>A	ENST00000358642.2	+	1	196	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	66					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTATTCCTTGGTGGTTTAGC	0.438																																						uc011bgs.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(196-198)Ggt>Agt		Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.							278	262	267					3																	97806212		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806212G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.196G>A	3.37:g.97806212G>A	ENSP00000351466:p.Gly66Ser						p.G66S	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			0	196	+			66						Missense_Mutation	SNP	ENST00000358642.2	37	c.196G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857637	0.32791	.	.	ENSG00000196578	ENST00000358642	T	0.04275	3.66	5.19	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.427722	0.16988	N	0.191412	T	0.01730	0.0055	N	0.03917	-0.325	0.09310	N	1	B	0.31859	0.343	B	0.33454	0.164	T	0.44651	-0.9314	10	0.02654	T	1	-11.5287	6.1565	0.20340	0.2765:0.1464:0.5771:0.0	.	66	Q9NZP5	O5AC2_HUMAN	S	66	ENSP00000351466:G66S	ENSP00000351466:G66S	G	+	1	0	OR5AC2	99288902	0.000000	0.05858	0.006000	0.13384	0.959000	0.62525	-0.396000	0.07278	0.352000	0.24053	0.590000	0.80494	GGT		0.438	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			A	97806212	G	A	97806212	3	1	256	1	0	0	0	0	1	0	0	0	11141	1348	47	3	198	3	OR5AC2	3	97806212	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		97806212	100216218	9	18263											
SENP7	57337	broad.mit.edu	37	chr3	101046635	101046635	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacgatgagtttttagttTaacttcccactctacctcta	9	17	5	10	1	2	2	0	2	2	0	3	3	3	2	2	0	2	2	2	0	4	9			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:101046635T>C	ENST00000394095.2	-	23	2943	c.2890A>G	c.(2890-2892)Aaa>Gaa	p.K964E	SENP7_ENST00000358203.3_Missense_Mutation_p.K800E|SENP7_ENST00000394094.2_Missense_Mutation_p.K899E|SENP7_ENST00000394085.3_Missense_Mutation_p.K152E|SENP7_ENST00000348610.3_Missense_Mutation_p.K931E|SENP7_ENST00000314261.7_Missense_Mutation_p.K898E|SENP7_ENST00000394091.1_Missense_Mutation_p.K800E	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	964	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTTTAGTTTAACTTCCCAC	0.338																																						uc003dut.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2890-2892)Aaa>Gaa		Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.							187	168	174					3																	101046635		2203	4298	6501	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101046635T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2890A>G	3.37:g.101046635T>C	ENSP00000377655:p.Lys964Glu					SENP7_uc003duu.3_Missense_Mutation_p.K899E|SENP7_uc003duv.3_Missense_Mutation_p.K931E|SENP7_uc003duw.3_Missense_Mutation_p.K898E|SENP7_uc003dux.3_Missense_Mutation_p.K800E|SENP7_uc003dus.3_Missense_Mutation_p.K152E	p.K964E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			22	3001	-			964			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2890A>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165799	0.78339	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.27	5.27	0.74061	.	0.112104	0.64402	D	0.000009	T	0.53916	0.1826	M	0.80508	2.5	0.41601	D	0.988852	P;D;P;D;D	0.58268	0.944;0.964;0.945;0.964;0.982	P;P;P;P;P	0.58577	0.453;0.801;0.641;0.686;0.841	T	0.62110	-0.6923	10	0.87932	D	0	-12.6301	15.4711	0.75441	0.0:0.0:0.0:1.0	.	800;898;931;964;152	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	E	964;899;898;800;800;152;931	ENSP00000377655:K964E;ENSP00000377654:K899E;ENSP00000313624:K898E;ENSP00000377651:K800E;ENSP00000350936:K800E;ENSP00000377647:K152E;ENSP00000342159:K931E	ENSP00000313624:K898E	K	-	1	0	SENP7	102529325	1.000000	0.71417	0.982000	0.44146	0.917000	0.54804	4.290000	0.59019	2.108000	0.64289	0.533000	0.62120	AAA		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		C	101046635	T	C	101046635	3	2	256	1	0	0	0	0	1	0	0	0	14051	1763	61	4	270	4	SENP7	3	101046635	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	3240423	101046635	96975795	10	18264											
AADAC	13	broad.mit.edu	37	chr3	151545690	151545690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttctgagctggctaaaaaAtatccagggttcctagatgt	12	12	10	7	0	1	2	0	1	1	1	3	2	3	2	2	2	1	4	2	2	5	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:151545690A>G	ENST00000232892.7	+	5	1056	c.930A>G	c.(928-930)aaA>aaG	p.K310K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	310					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGCTAAAAAATATCCAGGGT	0.418																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(928-930)aaA>aaG		Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.							45	46	46					3																	151545690		2203	4300	6503	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545690A>G	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.930A>G	3.37:g.151545690A>G							p.K310K	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1020	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	310					A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.930A>G	CCDS33877.1																																																																																				0.418	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		G	151545690	A	G	151545690	2	3	256	1	0	0	0	0	0	0	0	1	10	98	4	4		4	AADAC	3	151545690	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08	50499055	151545690	46476740	11	18265											
ATOH1	474	broad.mit.edu	37	chr4	94750754	94750754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggggaacagccaccgcCgcctccagcctcctgcaaaa	10	3	11	17	3	0	0	0	0	0	0	2	2	2	2	7	3	4	1	7	3	3	0			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:94750754C>T	ENST00000306011.3	+	1	713	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	226	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGCCACCGCCGCCTCCAGCC	0.632																																						uc003hta.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(676-678)cCg>cTg		Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.							27	32	30					4																	94750754		2198	4287	6485	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750754C>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.677C>T	4.37:g.94750754C>T	ENSP00000302216:p.Pro226Leu						p.P226L	NM_005172	NP_005163	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	0	677	+		Hepatocellular(203;0.114)	226			Poly-Pro.		Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.677C>T	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023794	0.19433	.	.	ENSG00000172238	ENST00000306011	D	0.97642	-4.47	4.22	3.28	0.37604	.	0.374956	0.27311	N	0.019957	D	0.91486	0.7312	N	0.17723	0.515	0.32729	N	0.50918	D	0.58268	0.982	B	0.41571	0.36	D	0.90829	0.4715	10	0.11485	T	0.65	-13.6889	12.4034	0.55426	0.1796:0.8204:0.0:0.0	.	226	Q92858	ATOH1_HUMAN	L	226	ENSP00000302216:P226L	ENSP00000302216:P226L	P	+	2	0	ATOH1	94969777	0.477000	0.25909	0.990000	0.47175	0.486000	0.33341	-0.022000	0.12480	2.202000	0.70862	0.472000	0.43445	CCG		0.632	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		T	94750754	C	T	94750754	3	4	256	1	0	0	0	0	1	0	0	0	1112	652	23	2	679	2	ATOH1	4	94750754	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		94750754	96403522	12	18266											
ZNF827	152485	broad.mit.edu	37	chr4	146791485	146791485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggggctttagtgcGtcctcagagacgcctggggc	4	10	14	13	2	1	1	1	0	0	1	3	2	3	1	4	4	1	1	4	4	1	3	rs186229674		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:146791485G>A	ENST00000508784.1	-	5	2120	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	ZNF827_ENST00000379448.4_Silent_p.D631D|ZNF827_ENST00000513320.1_Silent_p.D281D|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTTAGTGCGTCCTCAGAGA	0.537													G|||	1	0.000199681	0	0	5008	,	,		17215	0		0.001	False		,,,				2504	0					uc003ikn.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1891-1893)gaC>gaT		Homo sapiens zinc finger protein 827 (ZNF827), mRNA.							107	101	103					4																	146791485		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146791485G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1893C>T	4.37:g.146791485G>A						ZNF827_uc003ikm.3_Silent_p.D631D|ZNF827_uc010iox.3_Silent_p.D281D	p.D631D	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1941	-	all_hematologic(180;0.151)		631					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.1893C>T																																																																																					0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		A	146791485	G	A	146791485	2	1	256	1	0	0	0	0	0	0	0	1	18177	1136	40	1		1	ZNF827	4	146791485	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	52040731	146791485	44362791	13	18267											
IL31RA	133396	broad.mit.edu	37	chr5	55203287	55203287	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcttatgccaaagaaggCggtatgaatggacaagaccc	14	6	12	9	1	0	3	0	1	0	2	0	4	0	4	2	4	1	2	2	4	6	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:55203287C>T	ENST00000447346.2	+	10	1418	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000396834.1_Splice_Site_p.G432G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000354961.4_Splice_Site_p.G432G	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	419	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463																																						uc003jql.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.e10+1		Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.							99	87	91					5																	55203287		2203	4300	6503	SO:0001630	splice_region_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55203287C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1354+1C>T	5.37:g.55203287C>T						IL31RA_uc003jqk.3_Splice_Site_p.V452_splice|IL31RA_uc011cqj.2_Splice_Site_p.V310_splice|IL31RA_uc003jqm.3_Splice_Site_p.V433_splice|IL31RA_uc003jqn.3_Splice_Site_p.V452_splice|IL31RA_uc010iwa.1_Splice_Site_p.V420_splice|IL31RA_uc021xyq.1_Splice_Site_p.V433_splice|IL31RA_uc003jqo.3_Splice_Site_p.V310_splice	p.V452_splice	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN			10	1546	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	420			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1354_splice	CCDS3970.2																																																																																				0.463	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	Silent	T	55203287	C	T	55203287	5	4	256	1	0	0	0	0	0	0	1	0	7691	782	27	1	1391	1	IL31RA	5	55203287	Splice_Site	SNP	C	TCGA-74-6584-01A-11D-1845-08		55203287	125711973	14	18268											
FBN2	2201	broad.mit.edu	37	chr5	127624839	127624839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacacagcgtactccagtgTagtcaaggttgtagcccatt	10	10	9	12	1	1	0	1	0	0	0	2	0	2	0	3	1	3	4	3	1	4	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:127624839T>C	ENST00000508053.1	-	58	7591	c.6617A>G	c.(6616-6618)tAc>tGc	p.Y2206C	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2206C			P35556	FBN2_HUMAN	fibrillin 2	2206	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACTCCAGTGTAGTCAAGGTT	0.428																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6616-6618)tAc>tGc		Homo sapiens fibrillin 2 (FBN2), mRNA.							159	144	149					5																	127624839		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127624839T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6617A>G	5.37:g.127624839T>C	ENSP00000424571:p.Tyr2206Cys						p.Y2206C	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	51	7056	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2206			EGF-like 36; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6617A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100876	0.56183	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91843	-2.92;-2.92	5.87	5.87	0.94306	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.106874	0.42548	D	0.000694	D	0.90082	0.6902	N	0.17082	0.46	0.35264	D	0.779854	D	0.64830	0.994	P	0.57371	0.819	D	0.92160	0.5735	10	0.40728	T	0.16	.	12.2561	0.54625	0.1341:0.0:0.0:0.8659	.	2206	P35556	FBN2_HUMAN	C	2206	ENSP00000262464:Y2206C;ENSP00000424571:Y2206C	ENSP00000262464:Y2206C	Y	-	2	0	FBN2	127652738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.276000	0.33156	2.371000	0.80710	0.533000	0.62120	TAC		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		C	127624839	T	C	127624839	3	2	256	1	0	0	0	0	1	0	0	0	5703	1638	57	4	2177	4	FBN2	5	127624839	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	72421552	127624839	53290421	15	18269											
DSP	1832	broad.mit.edu	37	chr6	7581687	7581687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttggaactaaggagccAgctgcagatcagcaacaacc	14	6	9	12	0	2	1	1	0	1	1	2	3	2	3	2	2	7	3	2	2	4	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:7581687A>T	ENST00000379802.3	+	23	5605	c.5264A>T	c.(5263-5265)cAg>cTg	p.Q1755L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1755	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTAAGGAGCCAGCTGCAGATC	0.483																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5263-5265)cAg>cTg		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							88	95	92					6																	7581687		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581687A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5264A>T	6.37:g.7581687A>T	ENSP00000369129:p.Gln1755Leu					DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	p.Q1755L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	5543	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1755			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5264A>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693298	0.68386	.	.	ENSG00000096696	ENST00000379802	T	0.74209	-0.82	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000012	T	0.72961	0.3526	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	P	0.58391	0.838	T	0.70407	-0.4880	10	0.25106	T	0.35	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	1755	P15924	DESP_HUMAN	L	1755	ENSP00000369129:Q1755L	ENSP00000369129:Q1755L	Q	+	2	0	DSP	7526686	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.572000	0.82409	2.307000	0.77673	0.529000	0.55759	CAG		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7581687	A	T	7581687	3	4	256	1	0	0	0	0	1	0	0	0	4781	188	7	5	5354	5	DSP	6	7581687	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08		7581687	163533380	16	18270											
ZNF184	7738	broad.mit.edu	37	chr6	27419109	27419109	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggatgcagtctctgatgTttgttgagagcagagcgata	10	11	13	7	1	1	3	0	2	1	2	2	6	1	4	1	1	3	4	1	1	1	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:27419109T>C	ENST00000211936.6	-	6	2513	c.2229A>G	c.(2227-2229)aaA>aaG	p.K743K	ZNF184_ENST00000377419.1_Silent_p.K743K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCTGATGTTTGTTGAGAG	0.378																																						uc003njj.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(2227-2229)aaA>aaG		Homo sapiens zinc finger protein 184 (ZNF184), mRNA.							153	150	151					6																	27419109		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419109T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2229A>G	6.37:g.27419109T>C						ZNF184_uc010jqv.3_Silent_p.K743K|ZNF184_uc003nji.3_Silent_p.K743K	p.K743K	NM_007149	NP_009080	Q99676	ZN184_HUMAN			4	3040	-			743					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.2229A>G	CCDS4624.1																																																																																				0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		C	27419109	T	C	27419109	2	2	256	1	0	0	0	0	0	0	0	1	17748	1722	60	4		4	ZNF184	6	27419109	Silent	SNP	T	TCGA-74-6584-01A-11D-1845-08	19837422	27419109	143695958	17	18271											
PKHD1	5314	broad.mit.edu	37	chr6	51777281	51777281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaacttcatccccaGggttccagtccacagcatct	10	10	7	14	0	2	2	1	2	1	0	5	2	5	2	4	1	2	2	4	1	1	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51777281G>T	ENST00000371117.3	-	38	6490	c.6215C>A	c.(6214-6216)cCt>cAt	p.P2072H	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2072H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2072					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCATCCCCAGGGTTCCAGTC	0.478																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6214-6216)cCt>cAt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							166	152	157					6																	51777281		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51777281G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6215C>A	6.37:g.51777281G>T	ENSP00000360158:p.Pro2072His					PKHD1_uc010jzn.1_Missense_Mutation_p.P97H|PKHD1_uc003pai.3_Missense_Mutation_p.P2072H	p.P2072H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			37	6491	-	Lung NSC(77;0.0605)		2072					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6215C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783155	0.70222	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87887	-2.12;-2.31	5.99	4.14	0.48551	.	0.814212	0.11490	N	0.558825	D	0.87446	0.6179	M	0.74881	2.28	0.27611	N	0.948656	D;D;D	0.76494	0.997;0.979;0.999	P;P;P	0.59761	0.809;0.652;0.863	T	0.78740	-0.2086	10	0.52906	T	0.07	.	9.5115	0.39080	0.0:0.1557:0.6825:0.1618	.	2072;2072;2072	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	H	2072	ENSP00000360158:P2072H;ENSP00000341097:P2072H	ENSP00000341097:P2072H	P	-	2	0	PKHD1	51885240	0.911000	0.30947	0.735000	0.30896	0.980000	0.70556	3.624000	0.54231	0.790000	0.33803	0.655000	0.94253	CCT		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51777281	G	T	51777281	3	4	256	1	0	0	0	0	1	0	0	0	11971	1000	35	5	6168	5	PKHD1	6	51777281	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	24358172	51777281	119337786	18	18272											
PKHD1	5314	broad.mit.edu	37	chr6	51947232	51947232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaatccaagaaaacaggaAagacgtcacagggaacactc	19	3	9	10	1	1	2	1	0	0	2	3	4	2	4	1	2	2	1	1	2	6	0			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51947232A>G	ENST00000371117.3	-	4	514	c.239T>C	c.(238-240)tTt>tCt	p.F80S	PKHD1_ENST00000340994.4_Missense_Mutation_p.F80S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	80	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAACAGGAAAGACGTCACA	0.502																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(238-240)tTt>tCt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							176	181	180					6																	51947232		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947232A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.239T>C	6.37:g.51947232A>G	ENSP00000360158:p.Phe80Ser					PKHD1_uc003pai.3_Missense_Mutation_p.F80S	p.F80S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			3	515	-	Lung NSC(77;0.0605)		80			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.239T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	5.315	0.243472	0.10077	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86097	-1.86;-2.07	5.56	0.64	0.17752	.	0.955210	0.08751	N	0.899093	T	0.26376	0.0644	N	0.00230	-1.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39761	-0.9598	10	0.06757	T	0.87	.	8.7903	0.34845	0.3779:0.0:0.6221:0.0	.	80;80	P08F94-2;P08F94	.;PKHD1_HUMAN	S	80	ENSP00000360158:F80S;ENSP00000341097:F80S	ENSP00000341097:F80S	F	-	2	0	PKHD1	52055191	0.260000	0.24053	0.017000	0.16124	0.517000	0.34286	0.232000	0.17891	0.099000	0.17552	-0.371000	0.07208	TTT		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51947232	A	G	51947232	3	3	256	1	0	0	0	0	1	0	0	0	11971	14	1	4	12280	4	PKHD1	6	51947232	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	169951	51947232	119167835	19	18273											
COL10A1	1300	broad.mit.edu	37	chr6	116442879	116442879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccggggtcctggtaGgccagctggtccaacatctc	5	8	14	14	1	1	0	0	0	1	0	4	0	3	0	5	6	2	2	5	6	2	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:116442879G>A	ENST00000327673.4	-	2	807	c.400C>T	c.(400-402)Cta>Tta	p.L134L	AL121963.1_ENST00000430695.1_Missense_Mutation_p.R87K|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.L134L			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	134	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTCCTGGTAGGCCAGCTGGT	0.602																																						uc003pwm.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(400-402)Cta>Tta		Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.							58	52	54					6																	116442879		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442879G>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.400C>T	6.37:g.116442879G>A						NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	p.L134L	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	496	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	134			Triple-helical region.		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.400C>T	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	0.741	-0.776452	0.02951	.	.	ENSG00000234188	ENST00000430695	.	.	.	5.55	1.84	0.25277	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	5	0.02654	T	1	.	7.1006	0.25336	0.521:0.0:0.479:0.0	.	.	.	.	K	87	.	ENSP00000415795:R87K	R	+	2	0	AL121963.1	116549572	0.998000	0.40836	0.994000	0.49952	0.417000	0.31264	2.942000	0.49018	0.458000	0.26988	-0.302000	0.09304	AGG		0.602	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			A	116442879	G	A	116442879	2	1	256	1	0	0	0	0	0	0	0	1	3666	991	35	3		3	COL10A1	6	116442879	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	64495647	116442879	54672188	20	18274											
TMEM195	392636	broad.mit.edu	37	chr7	15599842	15599842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtggctttcctttgaGaatccagctgacaacaagtt	10	12	9	10	0	0	2	0	2	0	1	2	3	2	2	3	2	2	3	3	2	3	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:15599842G>T	ENST00000342526.3	-	2	350	c.181C>A	c.(181-183)Ctc>Atc	p.L61I		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	61					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTCCTTTGAGAATCCAGCTG	0.438																																						uc003stb.1																			0		p.I60F(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(181-183)Ctc>Atc		Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.							101	94	97					7																	15599842		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599842G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.181C>A	7.37:g.15599842G>T	ENSP00000341662:p.Leu61Ile						p.L61I	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			1	351	-			61					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.181C>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	7.681	0.689034	0.14973	.	.	ENSG00000187546	ENST00000342526	T	0.32272	1.46	5.93	4.12	0.48240	.	1.039930	0.07464	N	0.901105	T	0.26629	0.0651	L	0.42245	1.32	0.20926	N	0.999825	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.22706	T	0.39	-15.8475	7.6058	0.28101	0.1348:0.0:0.7305:0.1348	.	61	Q6ZNB7	ALKMO_HUMAN	I	61	ENSP00000341662:L61I	ENSP00000341662:L61I	L	-	1	0	AGMO	15566367	0.651000	0.27340	0.571000	0.28486	0.158000	0.22134	0.983000	0.29552	0.821000	0.34540	-0.150000	0.13652	CTC		0.438	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		T	15599842	G	T	15599842	3	4	256	1	0	0	0	0	1	0	0	0	16114	942	33	5	1204	5	TMEM195	7	15599842	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		15599842	143538821	21	18275											
COBL	23242	broad.mit.edu	37	chr7	51287539	51287539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgcgaaccaagttctgCtgcgacccgagggccccatc	8	8	10	15	3	2	0	1	0	1	0	3	3	2	0	4	1	4	2	4	1	2	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:51287539C>A	ENST00000265136.7	-	2	309	c.144G>T	c.(142-144)caG>caT	p.Q48H	COBL_ENST00000441453.1_Missense_Mutation_p.Q48H|COBL_ENST00000395540.2_Missense_Mutation_p.Q48H|COBL_ENST00000395542.2_Missense_Mutation_p.Q48H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	48					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCAAGTTCTGCTGCGACCCGA	0.632																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tps.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(142-144)caG>caT		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							57	56	57					7																	51287539		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51287539C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.144G>T	7.37:g.51287539C>A	ENSP00000265136:p.Gln48His					COBL_uc003tpr.4_Missense_Mutation_p.Q48H|COBL_uc011kcl.2_Missense_Mutation_p.Q48H|COBL_uc010kzc.3_Missense_Mutation_p.Q48H|COBL_uc003tpt.3_Missense_Mutation_p.Q48H	p.Q48H	NM_015198	NP_056013	O75128	COBL_HUMAN			1	329	-	Glioma(55;0.08)		48					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.144G>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.274021	0.10403	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.12255	2.74;2.7	5.59	0.295	0.15752	Cordon-bleu domain (1);	0.555863	0.15079	N	0.281761	T	0.08044	0.0201	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.25955	0.053;0.003;0.138;0.06	B;B;B;B	0.24394	0.053;0.003;0.053;0.048	T	0.28267	-1.0049	10	0.45353	T	0.12	.	4.7628	0.13116	0.0:0.451:0.297:0.252	.	48;48;48;48	O75128-3;O75128-5;O75128-7;O75128	.;.;.;COBL_HUMAN	H	48;48;48;48;32	ENSP00000265136:Q48H;ENSP00000378912:Q48H	ENSP00000265136:Q48H	Q	-	3	2	COBL	51255033	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.994000	0.03716	0.097000	0.17492	0.655000	0.94253	CAG		0.632	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51287539	C	A	51287539	3	1	256	1	0	0	0	0	1	0	0	0	3653	796	28	5	3689	5	COBL	7	51287539	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	35687697	51287539	107851124	22	18276											
PHF2	5253	broad.mit.edu	37	chr9	96421820	96421820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagcatgaggacgagctcCcggagcacttcaaaccttca	12	6	10	13	2	2	2	2	1	0	1	3	5	3	4	2	2	4	3	2	2	1	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:96421820C>T	ENST00000359246.4	+	11	1634	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	423					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGACGAGCTCCCGGAGCACTT	0.612																																						uc004aub.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1267-1269)Ccg>Tcg		Homo sapiens PHD finger protein 2 (PHF2), mRNA.							62	57	58					9																	96421820		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96421820C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1267C>T	9.37:g.96421820C>T	ENSP00000352185:p.Pro423Ser					PHF2_uc011lug.1_Missense_Mutation_p.P306S	p.P423S	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	10	1414	+		Myeloproliferative disorder(762;0.0255)	423					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1267C>T	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411319	0.83340	.	.	ENSG00000197724	ENST00000359246	T	0.60040	0.22	4.42	4.42	0.53409	.	0.054234	0.85682	N	0.000000	T	0.76069	0.3936	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80291	-0.1444	10	0.87932	D	0	-17.4469	17.2089	0.86925	0.0:1.0:0.0:0.0	.	423	O75151	PHF2_HUMAN	S	423	ENSP00000352185:P423S	ENSP00000352185:P423S	P	+	1	0	PHF2	95461641	1.000000	0.71417	0.996000	0.52242	0.678000	0.39670	7.351000	0.79395	2.280000	0.76307	0.297000	0.19635	CCG		0.612	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		T	96421820	C	T	96421820	3	4	256	1	0	0	0	0	1	0	0	0	11830	623	22	3	1309	3	PHF2	9	96421820	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		96421820	44791611	23	18277											
LPAR1	1902	broad.mit.edu	37	chr9	113703965	113703965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggtatagcacccataaCgatggccatagtccagatga	13	8	10	10	1	0	2	0	1	0	1	1	3	1	2	3	2	2	2	3	2	4	4	rs372111806		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:113703965C>T	ENST00000374431.3	-	4	912	c.529G>A	c.(529-531)Gtt>Att	p.V177I	LPAR1_ENST00000374430.2_Missense_Mutation_p.V177I|LPAR1_ENST00000541779.1_Missense_Mutation_p.V178I|LPAR1_ENST00000358883.4_Missense_Mutation_p.V177I|LPAR1_ENST00000538760.1_Missense_Mutation_p.V178I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	177					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.V177I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCACCCATAACGATGGCCATA	0.498																																					NSCLC(115;661 2323 9836 34256)	uc011lwo.2																			1	Substitution - Missense(1)	p.V177I(2)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(532-534)Gtt>Att		Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	152	139	144		529,529	4.6	0.8	9		144	0,8600		0,0,4300	no	missense,missense	LPAR1	NM_001401.3,NM_057159.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	177/365,177/365	113703965	1,13005	2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703965C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.529G>A	9.37:g.113703965C>T	ENSP00000363553:p.Val177Ile					LPAR1_uc004bfa.3_Missense_Mutation_p.V177I|LPAR1_uc011lwm.2_Missense_Mutation_p.V178I|LPAR1_uc004bfc.3_Missense_Mutation_p.V177I|LPAR1_uc011lwn.2_Missense_Mutation_p.V159I|LPAR1_uc004bfb.3_Missense_Mutation_p.V177I|LPAR1_uc010mub.3_Missense_Mutation_p.V177I	p.V178I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			1	534	-			177					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.532G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	5.776	0.327531	0.10956	2.27E-4	0.0	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.12611	0.24	0.50467	D	0.99987	B;B;B	0.12630	0.001;0.002;0.006	B;B;B	0.11329	0.002;0.006;0.006	T	0.08006	-1.0743	10	0.02654	T	1	.	13.2424	0.60004	0.0:0.924:0.0:0.076	.	178;178;177	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	177;178;177;177;159;178;177	ENSP00000363553:V177I;ENSP00000445697:V178I;ENSP00000363552:V177I;ENSP00000351755:V177I;ENSP00000440201:V178I;ENSP00000401810:V177I	ENSP00000351755:V177I	V	-	1	0	LPAR1	112743786	0.986000	0.35501	0.815000	0.32552	0.987000	0.75469	2.705000	0.47127	1.354000	0.45846	0.655000	0.94253	GTT		0.498	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		T	113703965	C	T	113703965	3	4	256	1	0	0	0	0	1	0	0	0	8904	536	19	1	573	1	LPAR1	9	113703965	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	17282145	113703965	27509466	24	18278											
CEP110	11064	broad.mit.edu	37	chr9	123930543	123930543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagagcgtgttaggaCtctgcaggaagaggagaggt	12	7	17	5	1	1	4	0	1	1	3	1	7	1	6	0	4	3	3	0	4	3	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:123930543C>G	ENST00000373855.1	+	38	6274	c.6014C>G	c.(6013-6015)aCt>aGt	p.T2005S	CNTRL_ENST00000238341.5_Missense_Mutation_p.T2005S|CNTRL_ENST00000373850.1_Missense_Mutation_p.T1453S|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2005	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGTGTTAGGACTCTGCAGGAA	0.498																																						uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6013-6015)aCt>aGt		Homo sapiens centriolin (CNTRL), mRNA.							120	121	121					9																	123930543		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123930543C>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6014C>G	9.37:g.123930543C>G	ENSP00000362962:p.Thr2005Ser					CNTRL_uc004blb.1_Missense_Mutation_p.T674S|CNTRL_uc010mvp.1_5'UTR	p.T2005S	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			35	6045	+			2005			Required for centrosome localization.|Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6014C>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	3.553	-0.091366	0.07053	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.30981	1.81;1.81;1.51	6.16	2.29	0.28610	.	.	.	.	.	T	0.22322	0.0538	L	0.53249	1.67	0.09310	N	1	B	0.24483	0.104	B	0.25140	0.058	T	0.37502	-0.9703	9	0.09590	T	0.72	.	3.1866	0.06603	0.1788:0.525:0.1002:0.1961	.	2005	Q7Z7A1	CNTRL_HUMAN	S	2005;2005;2005;761;162;1453;687	ENSP00000362962:T2005S;ENSP00000238341:T2005S;ENSP00000362956:T1453S	ENSP00000238341:T2005S	T	+	2	0	CNTRL	122970364	0.003000	0.15002	0.002000	0.10522	0.476000	0.33039	0.345000	0.19979	-0.020000	0.14032	-0.813000	0.03139	ACT		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		G	123930543	C	G	123930543	3	3	256	1	0	0	0	0	1	0	0	0	3245	565	20	5	6156	5	CEP110	9	123930543	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	10226578	123930543	17282888	25	18279											
SUFU	51684	broad.mit.edu	37	chr10	104353785	104353785	+	Frame_Shift_Del	DEL	G	G	-																															gctgataactgacatgcggaGgggagagaccatatttgaga																										TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:104353785delG	ENST00000369902.3	+	6	885	c.719delG	c.(718-720)aggfs	p.R240fs	SUFU_ENST00000423559.2_Frame_Shift_Del_p.R240fs|SUFU_ENST00000369899.2_Frame_Shift_Del_p.R240fs|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	240					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GACATGCGGAGGGGAGAGACC	0.532			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.2			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(718-720)aggfs		Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.							141	125	131					10																	104353785		2203	4300	6503	SO:0001589	frameshift_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353785delG	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.719delG	10.37:g.104353785delG	ENSP00000358918:p.Arg240fs					SUFU_uc001kvw.2_Frame_Shift_Del_p.R240fs|SUFU_uc001kvx.3_Frame_Shift_Del_p.R240fs|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	p.R240fs	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	910	+		Colorectal(252;0.207)	240					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Frame_Shift_Del	DEL	ENST00000369902.3	37	c.719delG	CCDS7537.1																																																																																				0.532	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		-	104353785	G	-	104353785	7	5	256	1	0	1	0	1	0	0	0	0	15367	1000	35	0	741	0	SUFU	10	104353785	Frame_Shift_Del	DEL	G	TCGA-74-6584-01A-11D-1845-08		104353785	31180962	26	18280											
C10orf79	80217	broad.mit.edu	37	chr10	105906078	105906078	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacatccaggtcttctctAgatttccgaacagcttctga	10	12	6	13	1	3	2	0	1	3	1	6	3	5	2	2	1	2	1	2	1	2	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:105906078A>G	ENST00000357060.3	-	30	3913	c.3798T>C	c.(3796-3798)tcT>tcC	p.S1266S	WDR96_ENST00000428666.1_Intron	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTCTTCTCTAGATTTCCGAA	0.418																																						uc001kxw.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3796-3798)tcT>tcC		Homo sapiens WD repeat domain 96 (WDR96), mRNA.							137	124	128					10																	105906078		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105906078A>G																												ENST00000357060.3:c.3798T>C	10.37:g.105906078A>G						WDR96_uc009xxq.3_Intron	p.S1266S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN			29	3914	-			1266						Silent	SNP	ENST00000357060.3	37	c.3798T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.188005	0.01607	.	.	ENSG00000197748	ENST00000457071	.	.	.	6.07	-5.92	0.02261	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.23724	N	0.997014	.	.	.	.	.	.	T	0.19321	-1.0309	4	.	.	.	.	1.3361	0.02145	0.3866:0.1705:0.2745:0.1684	.	.	.	.	P	115	.	.	L	-	2	0	WDR96	105896068	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.383000	0.02544	-1.999000	0.00967	-1.426000	0.01102	CTA		0.418	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	105906078	A	G	105906078	2	3	256	1	0	0	0	0	0	0	0	1	1618	407	15	4		4	C10orf79	10	105906078	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08	1552293	105906078	29628669	27	18281											
SIGIRR	59307	broad.mit.edu	37	chr11	408155	408155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacttcagtgctggtcacGttgacccccaggacactgga	9	9	11	12	1	2	2	2	1	0	1	2	4	2	4	2	3	1	2	2	3	1	3	rs142561304	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:408155G>A	ENST00000431843.2	-	4	564	c.258C>T	c.(256-258)aaC>aaT	p.N86N	SIGIRR_ENST00000531205.1_Silent_p.N86N|SIGIRR_ENST00000397632.3_Silent_p.N86N|SIGIRR_ENST00000332725.3_Silent_p.N86N|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.N86N	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	86	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGTCACGTTGACCCCCA	0.577													g|||	15	0.00299521	0	0	5008	,	,		19631	0.0119		0	False		,,,				2504	0.0031					uc001lpg.3																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(256-258)aaC>aaT		Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.		G	,,	0,4404		0,0,2202	126	115	119		258,258,258	1.1	0.7	11	dbSNP_134	119	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SIGIRR	NM_001135053.1,NM_001135054.1,NM_021805.2	,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,	86/411,86/411,86/411	408155	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408155G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.258C>T	11.37:g.408155G>A						SIGIRR_uc001lpd.2_Silent_p.N86N|SIGIRR_uc001lpf.2_Silent_p.N86N|SIGIRR_uc001lpe.1_Silent_p.N86N	p.N86N			Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	411	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	86			Ig-like C2-type.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.258C>T	CCDS31325.1																																																																																				0.577	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		A	408155	G	A	408155	2	1	256	1	0	0	0	0	0	0	0	1	14304	1136	40	1		1	SIGIRR	11	408155	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		408155	134598361	28	18282											
OR10AG1	282770	broad.mit.edu	37	chr11	55735664	55735664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcataagaaaaaaacaCatttgtgtagcacaagcaaa	21	6	6	8	0	0	1	0	0	0	1	0	1	0	1	1	0	4	4	1	0	8	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:55735664C>T	ENST00000312345.2	-	1	326	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAAAAACACATTTGTGTAG	0.403																																						uc010rit.2																			0		p.M92T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(274-276)atG>atA		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							82	86	85					11																	55735664		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735664C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.276G>A	11.37:g.55735664C>T	ENSP00000311477:p.Met92Ile						p.M92I	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	276	-	Esophageal squamous(21;0.0137)		92					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.276G>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102441	0.20632	.	.	ENSG00000174970	ENST00000312345	T	0.02015	4.5	5.47	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.105006	0.44483	D	0.000456	T	0.02342	0.0072	L	0.50847	1.595	0.09310	N	1	B	0.23316	0.083	B	0.20955	0.032	T	0.39722	-0.9600	10	0.52906	T	0.07	.	3.3248	0.07063	0.1641:0.4775:0.2657:0.0926	.	92	Q8NH19	O10AG_HUMAN	I	92	ENSP00000311477:M92I	ENSP00000311477:M92I	M	-	3	0	OR10AG1	55492240	0.000000	0.05858	0.985000	0.45067	0.402000	0.30811	-1.189000	0.03061	1.367000	0.46095	0.477000	0.44152	ATG		0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735664	C	T	55735664	3	4	256	1	0	0	0	0	1	0	0	0	10897	478	17	3	632	3	OR10AG1	11	55735664	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	55327509	55735664	79270852	29	18283											
DDI1	414301	broad.mit.edu	37	chr11	103908618	103908618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcggcaccactggcacGcagacttattttcttcctga	8	12	8	13	2	2	2	1	1	1	1	4	2	3	2	2	2	0	3	2	2	1	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:103908618G>A	ENST00000302259.3	+	1	1311	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	356							aspartic-type endopeptidase activity (GO:0004190)	p.T356T(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463																																						uc001phr.2																			2	Substitution - coding silent(2)	p.T356T(3)	endometrium(2)	central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1066-1068)acG>acA		Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.							84	82	83					11																	103908618		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908618G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1068G>A	11.37:g.103908618G>A						PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	p.T356T	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	0	1311	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	356					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.1068G>A	CCDS31660.1																																																																																				0.463	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		A	103908618	G	A	103908618	2	1	256	1	0	0	0	0	0	0	0	1	4328	1074	38	1		1	DDI1	11	103908618	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	48172954	103908618	31097898	30	18284											
MMP19	4327	broad.mit.edu	37	chr12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtggtatccaaggttatgCccgtacctgagggagtggta	9	10	15	7	1	0	1	0	1	0	0	1	3	1	2	3	4	2	4	3	4	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:56230872C>T	ENST00000322569.4	-	9	1566	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Missense_Mutation_p.G206D|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_Missense_Mutation_p.G469D	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	492					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CAAGGTTATGCCCGTACCTGA	0.507																																						uc001sib.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(1474-1476)gGc>gAc		Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.							254	240	245					12																	56230872		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56230872C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1475G>A	12.37:g.56230872C>T	ENSP00000313437:p.Gly492Asp					MMP19_uc001sia.3_Missense_Mutation_p.G206D|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	p.G492D	NM_002429	NP_002420	Q99542	MMP19_HUMAN			8	1596	-			492					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.1475G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388699	0.25118	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.16196	4.61;2.52;2.36	5.08	-1.03	0.10102	.	380.668000	0.00166	N	0.000000	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.27262	-1.0079	10	0.08381	T	0.77	.	8.2874	0.31937	0.0:0.4412:0.0:0.5588	.	492;206	Q99542;Q99542-3	MMP19_HUMAN;.	D	206;492;469	ENSP00000377736:G206D;ENSP00000313437:G492D;ENSP00000446979:G469D	ENSP00000313437:G492D	G	-	2	0	MMP19	54517139	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.224000	0.02959	-0.161000	0.10983	-0.291000	0.09656	GGC		0.507	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		T	56230872	C	T	56230872	3	4	256	1	0	0	0	0	1	0	0	0	9657	739	26	3	55	3	MMP19	12	56230872	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		56230872	77621023	31	18285											
PLXNC1	10154	broad.mit.edu	37	chr12	94654582	94654582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcgaaaaactcctcacaaActggatgtccgtctgccttt	10	11	7	13	3	2	0	1	0	1	0	5	2	4	1	3	1	3	0	3	1	3	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:94654582A>T	ENST00000258526.4	+	20	3665	c.3416A>T	c.(3415-3417)aAc>aTc	p.N1139I	PLXNC1_ENST00000545312.1_5'Flank|PLXNC1_ENST00000547057.1_Missense_Mutation_p.N186I|PLXNC1_ENST00000551495.1_3'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1139					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCACAAACTGGATGTCC	0.498																																						uc001tdc.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3415-3417)aAc>aTc		Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.							103	107	106					12																	94654582		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94654582A>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3416A>T	12.37:g.94654582A>T	ENSP00000258526:p.Asn1139Ile					PLXNC1_uc010sut.2_Missense_Mutation_p.N186I|PLXNC1_uc009zsv.3_5'Flank	p.N1139I	NM_005761	NP_005752	O60486	PLXC1_HUMAN			19	3665	+			1139					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3416A>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691178	0.88735	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.14893	2.47;2.47	6.17	6.17	0.99709	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.54022	-0.8355	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	186;1139	B4DHQ7;O60486	.;PLXC1_HUMAN	I	1139;186	ENSP00000258526:N1139I;ENSP00000446720:N186I	ENSP00000258526:N1139I	N	+	2	0	PLXNC1	93178713	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAC		0.498	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94654582	A	T	94654582	3	4	256	1	0	0	0	0	1	0	0	0	12126	43	2	5	3494	5	PLXNC1	12	94654582	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	38423710	94654582	39197313	32	18286											
COL4A2	1284	broad.mit.edu	37	chr13	111084708	111084708	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccaaaaggacagcaaGtaagttggttttggggggtg	11	9	16	5	0	0	0	0	0	0	0	0	2	0	2	1	6	1	4	1	6	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr13:111084708G>A	ENST00000360467.5	+	11	990		c.e11+1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGACAGCAAGTAAGTTGGTT	0.438																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e11+1		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							46	46	46					13																	111084708		1839	4090	5929	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111084708G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.684+1G>A	13.37:g.111084708G>A							p.Q228_splice	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		11	973	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	228			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.684_splice	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891678	0.33442	.	.	ENSG00000134871	ENST00000360467	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4947	0.87714	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A2	109882709	1.000000	0.71417	0.982000	0.44146	0.533000	0.34776	6.202000	0.72131	2.464000	0.83262	0.455000	0.32223	.		0.438	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Intron	A	111084708	G	A	111084708	5	1	256	1	0	0	0	0	0	0	1	0	3690	1043	36	3	723	3	COL4A2	13	111084708	Splice_Site	SNP	G	TCGA-74-6584-01A-11D-1845-08		111084708	4085170	33	18287											
PTGR2	145482	broad.mit.edu	37	chr14	74346839	74346839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttatcctcccccgctatccCctgctatagaggcaatccag	8	10	6	17	1	0	1	0	0	0	1	4	1	4	1	6	1	1	3	6	1	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr14:74346839C>G	ENST00000555661.1	+	7	956	c.811C>G	c.(811-813)Cct>Gct	p.P271A	PTGR2_ENST00000553813.1_Missense_Mutation_p.P137A|PTGR2_ENST00000555228.1_Missense_Mutation_p.P271A|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.P201A|PTGR2_ENST00000267568.4_Missense_Mutation_p.P271A			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	271					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	CCCGCTATCCCCTGCTATAGA	0.413																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.3																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(811-813)Cct>Gct		Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.							102	91	95					14																	74346839		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74346839C>G	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.811C>G	14.37:g.74346839C>G	ENSP00000452280:p.Pro271Ala					PTGR2_uc010tue.2_Missense_Mutation_p.P271A|PTGR2_uc001xox.3_Missense_Mutation_p.P271A|ZNF410_uc001xoy.2_Non-coding_Transcript	p.P271A	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN			6	971	+			271					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.811C>G	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	8.275	0.814180	0.16537	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;0.99;-1.1	5.49	3.67	0.42095	NAD(P)-binding domain (1);	0.226336	0.45867	D	0.000330	T	0.63510	0.2517	L	0.28649	0.875	0.27194	N	0.960351	B	0.02656	0.0	B	0.04013	0.001	T	0.55798	-0.8084	10	0.52906	T	0.07	-4.467	6.5322	0.22334	0.1345:0.6665:0.1296:0.0693	.	271	Q8N8N7	PTGR2_HUMAN	A	271;271;271;222;137	ENSP00000450975:P271A;ENSP00000452280:P271A;ENSP00000267568:P271A;ENSP00000451158:P222A;ENSP00000450824:P137A	ENSP00000267568:P271A	P	+	1	0	RP5-1021I20.4;PTGR2	73416592	0.994000	0.37717	0.364000	0.25888	0.471000	0.32888	1.194000	0.32174	0.676000	0.31285	-0.230000	0.12252	CCT		0.413	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			G	74346839	C	G	74346839	3	3	256	1	0	0	0	0	1	0	0	0	12754	623	22	5	833	5	PTGR2	14	74346839	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		74346839	33002701	34	18288											
MFAP1	4236	broad.mit.edu	37	chr15	44106722	44106722	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaatgaagactggcttaagGcgaggctccatctcatcttc	10	10	10	11	2	2	2	1	1	2	1	5	4	3	2	1	3	0	2	1	3	3	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr15:44106722G>T	ENST00000267812.3	-	4	826	c.594C>A	c.(592-594)cgC>cgA	p.R198R		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	198					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGGCTTAAGGCGAGGCTCCA	0.448																																						uc001zth.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(592-594)cgC>cgA		Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.							211	198	202					15																	44106722		2198	4298	6496	SO:0001819	synonymous_variant	4236					microfibril		g.chr15:44106722G>T		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.594C>A	15.37:g.44106722G>T							p.R198R	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	3	778	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	198					Q86TG6	Silent	SNP	ENST00000267812.3	37	c.594C>A	CCDS10105.1																																																																																				0.448	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		T	44106722	G	T	44106722	2	4	256	1	0	0	0	0	0	0	0	1	9513	1190	42	5		5	MFAP1	15	44106722	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		44106722	58424670	35	18289											
VWA3A	146177	broad.mit.edu	37	chr16	22149825	22149825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcccaccgtccccctggggGccagaatggtttgactcccc	5	7	12	17	1	0	2	0	1	0	1	2	2	2	2	7	4	0	1	7	4	1	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:22149825G>A	ENST00000389398.5	+	22	2380	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	762						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCCCTGGGGGCCAGAATGGT	0.537																																						uc010vbq.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(2284-2286)Gcc>Acc		Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.							42	45	44					16																	22149825		1893	4117	6010	SO:0001583	missense	146177					extracellular region		g.chr16:22149825G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2284G>A	16.37:g.22149825G>A	ENSP00000374049:p.Ala762Thr					VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.A770T	p.A762T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	21	2380	+			762					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.2284G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875783	0.33162	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.14144	2.53	5.18	2.02	0.26589	.	0.274240	0.34338	N	0.004047	T	0.25158	0.0611	M	0.71581	2.175	0.80722	D	1	D;D	0.58620	0.983;0.978	P;P	0.53861	0.736;0.729	T	0.01287	-1.1395	10	0.56958	D	0.05	.	10.2485	0.43356	0.0:0.2759:0.5813:0.1429	.	762;386	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	T	762;385	ENSP00000374049:A762T	ENSP00000299840:A385T	A	+	1	0	VWA3A	22057326	0.998000	0.40836	0.558000	0.28319	0.287000	0.27160	0.562000	0.23531	0.248000	0.21435	-0.268000	0.10319	GCC		0.537	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			A	22149825	G	A	22149825	3	1	256	1	0	0	0	0	1	0	0	0	17237	1203	42	3	2370	3	VWA3A	16	22149825	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		22149825	68204928	36	18290											
STX1B	112755	broad.mit.edu	37	chr16	31004532	31004532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtccacagaatgttccacGttgtactcgatgcggtcaat	10	12	9	10	3	1	1	1	0	0	1	4	2	3	1	2	1	2	3	2	1	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:31004532G>A	ENST00000215095.5	-	9	936	c.705C>T	c.(703-705)aaC>aaT	p.N235N	STX1B_ENST00000565419.1_Silent_p.N235N	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	235	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AATGTTCCACGTTGTACTCGA	0.602																																						uc010cad.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(703-705)aaC>aaT		Homo sapiens syntaxin 1B (STX1B), mRNA.							155	140	145					16																	31004532		2197	4300	6497	SO:0001819	synonymous_variant	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31004532G>A	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.705C>T	16.37:g.31004532G>A						STX1B_uc010vfd.2_Silent_p.N235N	p.N235N	NM_052874	NP_443106	P61266	STX1B_HUMAN			8	817	-			235			t-SNARE coiled-coil homology.		Q15531|Q2VPS2	Silent	SNP	ENST00000215095.5	37	c.705C>T	CCDS10699.1																																																																																				0.602	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			A	31004532	G	A	31004532	2	1	256	1	0	0	0	0	0	0	0	1	15343	1136	40	1		1	STX1B	16	31004532	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	8854707	31004532	59350221	37	18291											
FAM92B	339145	broad.mit.edu	37	chr16	85132864	85132864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggctgccccttaaccAcccactcacagagactaaac	11	6	8	16	0	1	1	1	0	0	1	1	2	1	1	4	2	3	2	4	2	3	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:85132864A>C	ENST00000539556.1	-	9	997	c.842T>G	c.(841-843)gTg>gGg	p.V281G		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	281										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CCCCTTAACCACCCACTCACA	0.532																																						uc021tma.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(841-843)gTg>gGg		Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.							125	99	108					16																	85132864		2198	4300	6498	SO:0001583	missense	339145							g.chr16:85132864A>C		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.842T>G	16.37:g.85132864A>C	ENSP00000443411:p.Val281Gly					FAM92B_uc021tlz.1_Missense_Mutation_p.V279G	p.V281G	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN			8	998	-			281						Missense_Mutation	SNP	ENST00000539556.1	37	c.842T>G	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	A	3.833	-0.035399	0.07497	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.37058	1.22	1.33	-0.907	0.10521	.	3.778660	0.01092	N	0.005218	T	0.26231	0.0640	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30592	-0.9973	10	0.87932	D	0	.	5.5885	0.17287	0.5774:0.4226:0.0:0.0	.	281	Q6ZTR7	FA92B_HUMAN	G	281	ENSP00000443411:V281G	ENSP00000376937:V281G	V	-	2	0	FAM92B	83690365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.510000	0.06328	-0.243000	0.09653	-0.347000	0.07816	GTG		0.532	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		C	85132864	A	C	85132864	3	2	256	1	0	0	0	0	1	0	0	0	5653	159	6	5	76	5	FAM92B	16	85132864	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	54128332	85132864	5221889	38	18292											
FOXN1	8456	broad.mit.edu	37	chr17	26864216	26864216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatccccgacatcatcttCgatgccaccaccccagccac	9	7	4	21	2	3	0	2	0	1	0	5	2	4	0	7	0	2	0	7	0	0	1	rs376900275		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr17:26864216C>T	ENST00000226247.2	+	8	1738	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	FOXN1_ENST00000579795.1_Missense_Mutation_p.S570L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	570					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACATCATCTTCGATGCCACCA	0.612																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1708-1710)tCg>tTg		Homo sapiens forkhead box N1 (FOXN1), mRNA.		C	LEU/SER	0,4406		0,0,2203	93	83	86		1709	4.1	0.9	17		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN1	NM_003593.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	570/649	26864216	1,13005	2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864216C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1709C>T	17.37:g.26864216C>T	ENSP00000226247:p.Ser570Leu					FOXN1_uc002hbj.3_Missense_Mutation_p.S570L	p.S570L	NM_003593	NP_003584	O15353	FOXN1_HUMAN			8	1907	+	Lung NSC(42;0.00431)		570					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1709C>T	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850823	0.32699	0.0	1.16E-4	ENSG00000109101	ENST00000226247	D	0.92858	-3.12	4.13	4.13	0.48395	.	0.000000	0.41294	D	0.000916	D	0.86573	0.5965	N	0.22421	0.69	0.40918	D	0.984289	D	0.63880	0.993	P	0.44647	0.456	D	0.87412	0.2376	10	0.45353	T	0.12	.	12.602	0.56503	0.0:1.0:0.0:0.0	.	570	O15353	FOXN1_HUMAN	L	570	ENSP00000226247:S570L	ENSP00000226247:S570L	S	+	2	0	FOXN1	23888343	0.996000	0.38824	0.889000	0.34880	0.112000	0.19704	3.607000	0.54102	2.198000	0.70561	0.561000	0.74099	TCG		0.612	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			T	26864216	C	T	26864216	3	4	256	1	0	0	0	0	1	0	0	0	6019	893	31	2	1739	2	FOXN1	17	26864216	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		26864216	54330994	39	18293											
THOC1	9984	broad.mit.edu	37	chr18	225100	225100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacatacctctaccatctTtgaaaatctttctccatcgg	12	13	3	13	1	4	1	0	1	4	0	6	1	4	1	3	1	3	0	3	1	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr18:225100T>C	ENST00000261600.6	-	14	1133	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	376					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTACCATCTTTGAAAATCTT	0.363																																						uc002kkj.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1126-1128)Aag>Gag		Homo sapiens THO complex 1 (THOC1), mRNA.							37	34	35					18																	225100		1805	4063	5868	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:225100T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1126A>G	18.37:g.225100T>C	ENSP00000261600:p.Lys376Glu					THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.4_5'UTR	p.K376E	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			13	1166	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	376					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.1126A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487137	0.26686	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.16	6.16	0.99307	.	0.132843	0.64402	D	0.000002	T	0.43875	0.1267	N	0.17872	0.535	0.53688	D	0.999976	B	0.18610	0.029	B	0.21151	0.033	T	0.34725	-0.9817	9	0.14656	T	0.56	-16.2864	16.8061	0.85666	0.0:0.0:0.0:1.0	.	376	Q96FV9	THOC1_HUMAN	E	376	.	ENSP00000261600:K376E	K	-	1	0	THOC1	215100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.400000	0.44504	2.367000	0.80283	0.528000	0.53228	AAG		0.363	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		C	225100	T	C	225100	3	2	256	1	0	0	0	0	1	0	0	0	15861	1850	64	4	879	4	THOC1	18	225100	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08		225100	77852148	40	18294											
CEACAM7	1087	broad.mit.edu	37	chr19	42187745	42187745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggtcactgCggctggcacccactgggttc	5	9	15	12	1	2	1	2	1	0	0	3	1	2	1	1	5	1	3	1	5	0	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:42187745C>T	ENST00000006724.3	-	3	878	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R226H	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	226	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGGTCACTGCGGCTGGCACC	0.547																																						uc002ori.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(676-678)cGc>cAc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.							165	161	163					19																	42187745		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187745C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.677G>A	19.37:g.42187745C>T	ENSP00000006724:p.Arg226His					CEACAM7_uc010ehx.2_Missense_Mutation_p.R226H|CEACAM7_uc010ehy.1_Intron	p.R226H	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	679	-			226			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.677G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	4.854	0.158766	0.09236	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.12672	2.66;2.66	3.02	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15696	0.0378	L	0.60455	1.87	0.09310	N	0.999996	B	0.27140	0.169	B	0.34418	0.182	T	0.27739	-1.0065	9	0.46703	T	0.11	.	6.1546	0.20330	0.0:0.8436:0.0:0.1564	.	226	Q14002	CEAM7_HUMAN	H	226;205;226	ENSP00000006724:R226H;ENSP00000385932:R226H	ENSP00000006724:R226H	R	-	2	0	CEACAM7	46879585	0.000000	0.05858	0.269000	0.24586	0.124000	0.20399	-0.720000	0.04969	0.373000	0.24621	0.313000	0.20887	CGC		0.547	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		T	42187745	C	T	42187745	3	4	256	1	0	0	0	0	1	0	0	0	3197	768	27	1	128	1	CEACAM7	19	42187745	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		42187745	16941238	41	18295											
NLRP12	91662	broad.mit.edu	37	chr19	54313743	54313743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggctcgttgtccctcacGtaattgaagacttggcccgc	8	10	11	12	3	1	3	1	1	0	2	3	3	2	3	2	2	0	3	2	2	2	4	rs146245368	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:54313743G>A	ENST00000324134.6	-	3	1338	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	NLRP12_ENST00000535162.1_Silent_p.Y390Y|NLRP12_ENST00000345770.5_Silent_p.Y390Y|NLRP12_ENST00000391772.1_Silent_p.Y390Y|NLRP12_ENST00000354278.3_Silent_p.Y390Y|NLRP12_ENST00000351894.4_Silent_p.Y390Y|NLRP12_ENST00000391775.3_Silent_p.Y390Y|NLRP12_ENST00000391773.1_Silent_p.Y390Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	390	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTCCCTCACGTAATTGAAGA	0.567													G|||	5	0.000998403	0.0038	0	5008	,	,		17279	0		0	False		,,,				2504	0					uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1168-1170)taC>taT		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.		G		16,4390	22.3+/-47.3	0,16,2187	181	178	179		1170	-9.3	0	19	dbSNP_134	179	0,8600		0,0,4300	no	coding-synonymous	NLRP12	NM_144687.2		0,16,6487	AA,AG,GG		0.0,0.3631,0.123		390/1062	54313743	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313743G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1170C>T	19.37:g.54313743G>A						NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.Y390Y|NLRP12_uc002qci.4_Silent_p.Y390Y|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.Y390Y	p.Y390Y	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	1390	-	Ovarian(34;0.19)		390			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1170C>T	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54313743	G	A	54313743	2	1	256	1	0	0	0	0	0	0	0	1	10474	1140	40	1		1	NLRP12	19	54313743	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	12125998	54313743	4815240	42	18296											
FASTKD5	60493	broad.mit.edu	37	chr20	3128199	3128199	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttaaggaggtcaaacttAgttctctcctgagctaacct	10	13	7	11	0	2	1	1	1	1	0	5	2	4	2	3	2	3	2	3	2	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr20:3128199A>C	ENST00000380266.3	-	2	1839	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	506					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468																																						uc021vzx.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1516-1518)acT>acG		Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.							53	49	50					20																	3128199		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128199A>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1518T>G	20.37:g.3128199A>C						LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.T506T	p.T506T	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			0	1518	-			506					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.1518T>G	CCDS13048.1																																																																																				0.468	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		C	3128199	A	C	3128199	2	2	256	1	0	0	0	0	0	0	0	1	5688	407	15	5		5	FASTKD5	20	3128199	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08		3128199	59897321	43	18297											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999269	27999269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattttctgtgctggcatcGttcaggaaaccaccatccct	8	13	8	12	1	2	1	1	1	1	0	4	2	3	2	3	2	2	3	3	2	1	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:27999269G>A	ENST00000441525.1	-	1	297	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	61										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGCTGGCATCGTTCAGGAAAC	0.507																																						uc004dbx.1																			0		p.L60M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(181-183)aaC>aaT		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							155	113	127					X																	27999269		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999269G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.183C>T	X.37:g.27999269G>A							p.N61N	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	298	-			61					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.183C>T	CCDS35222.1																																																																																				0.507	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		A	27999269	G	A	27999269	2	1	256	1	0	0	0	0	0	0	0	1	4277	1136	40	1		1	DCAF8L1	23	27999269	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		27999269	127271291	44	18298											
SSX5	6758	broad.mit.edu	37	chrX	48053576	48053576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactcaccctgattcccaCggttagggtcattatcaaaa	11	12	6	12	1	4	1	3	1	1	0	5	1	5	1	2	2	1	1	2	2	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:48053576C>T	ENST00000376923.1	-	3	268	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SSX5_ENST00000347757.1_Missense_Mutation_p.R90H|SSX5_ENST00000311798.1_Missense_Mutation_p.R131H			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATTCCCACGGTTAGGGTC	0.498																																						uc004diz.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(391-393)cGt>cAt		Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.							105	94	98					X																	48053576		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053576C>T	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.269G>A	X.37:g.48053576C>T	ENSP00000366122:p.Arg90His					SSX5_uc004dja.1_Missense_Mutation_p.R90H	p.R131H	NM_021015	NP_066295	O60225	SSX5_HUMAN			4	445	-			90					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.392G>A	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	0.036	-1.306713	0.01353	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.08807	3.05;3.1;3.1	1.72	-3.44	0.04796	.	5.477240	0.00357	N	0.000034	T	0.04227	0.0117	N	0.11313	0.125	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.004	T	0.38929	-0.9638	10	0.10111	T	0.7	.	5.0234	0.14372	0.0:0.2787:0.2134:0.5079	.	90;131	O60225;O60225-2	SSX5_HUMAN;.	H	131;90;90	ENSP00000312415:R131H;ENSP00000366122:R90H;ENSP00000290558:R90H	ENSP00000312415:R131H	R	-	2	0	SSX5	47938520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.490000	0.00975	-3.526000	0.00147	-1.200000	0.01667	CGT		0.498	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		T	48053576	C	T	48053576	3	4	256	1	0	0	0	0	1	0	0	0	15207	536	19	1	313	1	SSX5	23	48053576	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	20054307	48053576	107216984	45	18299											
MUM1L1	139221	broad.mit.edu	37	chrX	105450536	105450536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaatctttctctattagatGatgatgaggaagacgaagaa	15	13	9	4	1	2	6	0	3	2	3	3	8	2	7	0	1	0	0	0	1	6	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:105450536G>A	ENST00000357175.2	+	4	1760	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.D371N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.D371N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	371						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTATTAGATGATGATGAGGA	0.368																																						uc022cca.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1111-1113)Gat>Aat		Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.							37	32	33					X																	105450536		1861	4095	5956	SO:0001583	missense	139221							g.chrX:105450536G>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1111G>A	X.37:g.105450536G>A	ENSP00000349699:p.Asp371Asn					MUM1L1_uc004emg.2_Missense_Mutation_p.D371N|MUM1L1_uc004emf.2_Missense_Mutation_p.D371N	p.D371N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN			0	1111	+			371					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1111G>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	9.070	0.996653	0.19043	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.26810	1.71;1.71;1.71	4.45	3.57	0.40892	.	0.504060	0.18092	N	0.151977	T	0.19087	0.0458	L	0.41236	1.265	0.09310	N	0.999998	B	0.16802	0.019	B	0.17433	0.018	T	0.14282	-1.0478	10	0.34782	T	0.22	-7.3441	6.7254	0.23353	0.13:0.0:0.87:0.0	.	371	Q5H9M0	MUML1_HUMAN	N	371	ENSP00000349699:D371N;ENSP00000338641:D371N;ENSP00000361632:D371N	ENSP00000338641:D371N	D	+	1	0	MUM1L1	105337192	0.886000	0.30341	0.388000	0.26195	0.031000	0.12232	1.767000	0.38501	1.183000	0.42943	0.600000	0.82982	GAT		0.368	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		A	105450536	G	A	105450536	3	1	256	1	0	0	0	0	1	0	0	0	9986	1290	45	3	1113	3	MUM1L1	23	105450536	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	57396960	105450536	49820024	46	18300											
LAMP2	3920	broad.mit.edu	37	chrX	119589247	119589247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaaatgttgtgttatcaCcagtgttgtaggaaaatgag	13	12	12	4	0	1	1	1	1	0	0	1	3	1	3	1	2	0	4	1	2	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:119589247C>A	ENST00000200639.4	-	3	498	c.362G>T	c.(361-363)gGt>gTt	p.G121V	LAMP2_ENST00000434600.2_Missense_Mutation_p.G121V|LAMP2_ENST00000540603.1_Missense_Mutation_p.G74V|LAMP2_ENST00000371335.4_Missense_Mutation_p.G121V|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	121	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGTGTTATCACCAGTGTTGTA	0.363																																						uc004ess.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(361-363)gGt>gTt		Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.							139	121	127					X																	119589247		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119589247C>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.362G>T	X.37:g.119589247C>A	ENSP00000200639:p.Gly121Val					LAMP2_uc004est.4_Missense_Mutation_p.G121V|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.G74V|LAMP2_uc010nqp.1_Missense_Mutation_p.G121V	p.G121V	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN			2	542	-			121			First lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.362G>T	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606054	0.28623	.	.	ENSG00000005893	ENST00000434600;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.45	0.308	0.15815	.	0.927737	0.09374	N	0.810832	T	0.23572	0.0570	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.33266	0.25;0.404;0.25;0.25	B;B;B;B	0.36719	0.152;0.148;0.231;0.152	T	0.27262	-1.0079	10	0.39692	T	0.17	-0.2186	5.2014	0.15267	0.0:0.404:0.1429:0.4531	.	74;121;121;121	B4E2S7;P13473-2;P13473;Q6Q3G8	.;.;LAMP2_HUMAN;.	V	121;121;121;74	ENSP00000408411:G121V;ENSP00000200639:G121V;ENSP00000360386:G121V;ENSP00000440479:G74V	ENSP00000200639:G121V	G	-	2	0	LAMP2	119473275	0.001000	0.12720	0.000000	0.03702	0.866000	0.49608	-0.675000	0.05227	-0.425000	0.07371	0.600000	0.82982	GGT		0.363	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			A	119589247	C	A	119589247	3	1	256	1	0	0	0	0	1	0	0	0	8618	507	18	5	1189	5	LAMP2	23	119589247	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	14138711	119589247	35681313	47	18301											
CASZ1	54897	broad.mit.edu	37	chr1	10699777	10699777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagtcggcgaagtggCagctgagtgaggccttgaag	9	6	19	7	2	0	3	0	3	0	0	1	4	0	3	1	5	1	3	1	5	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:10699777C>T	ENST00000377022.3	-	21	4819	c.4502G>A	c.(4501-4503)tGc>tAc	p.C1501Y	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1501				C -> R (in Ref. 2; ABB29845). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAAGTGGCAGCTGAGTGA	0.657																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4501-4503)tGc>tAc		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							28	44	39					1																	10699777		2175	4277	6452	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699777C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4502G>A	1.37:g.10699777C>T	ENSP00000366221:p.Cys1501Tyr						p.C1501Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	20	4822	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1501	C -> R (in Ref. 2; ABB29845).				Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4502G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713556	0.89112	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.86	4.86	0.63082	.	0.000000	0.49916	U	0.000122	T	0.78368	0.4272	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.81333	-0.0980	9	0.87932	D	0	-17.4081	17.9835	0.89148	0.0:1.0:0.0:0.0	.	1501	Q86V15	CASZ1_HUMAN	Y	1501	.	ENSP00000366221:C1501Y	C	-	2	0	CASZ1	10622364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.701000	0.84566	2.256000	0.74724	0.460000	0.39030	TGC		0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		T	10699777	C	T	10699777	3	4	257	1	0	0	0	0	1	0	0	0	2685	710	25	3	781	3	CASZ1	1	10699777	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		10699777	238550844	1	18302											
NCDN	23154	broad.mit.edu	37	chr1	36026428	36026431	+	Frame_Shift_Del	DEL	AGTG	AGTG	-																															tggccgtgttgcggggcctcAgtgaggatttccagaaagct																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:36026428_36026431delAGTG	ENST00000373243.2	+	3	1059_1062	c.676_679delAGTG	c.(676-681)agtgagfs	p.SE226fs	NCDN_ENST00000373253.3_Frame_Shift_Del_p.SE209fs|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Frame_Shift_Del_p.SE226fs	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	226					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTTCCA	0.642																																						uc001bza.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(676-681)agtgagfs		Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026428_36026431delAGTG	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.676_679delAGTG	1.37:g.36026428_36026431delAGTG	ENSP00000362340:p.Ser226fs					KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.S209fs	p.S226fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN			3	803_806	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	226					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Frame_Shift_Del	DEL	ENST00000373243.2	37	c.676_679delAGTG	CCDS392.1																																																																																				0.642	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		-	36026431	AGTG	-	36026428	7	5	257	1	0	1	0	1	0	0	0	0	10214	188	7	0	686	0	NCDN	1	36026428	Frame_Shift_Del	DEL	AGTG	TCGA-76-4925-01A-01D-1486-08	25326651	36026428	213224193	2	18303											
TOE1	114034	broad.mit.edu	37	chr1	45807217	45807217	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttccctgggcctcgcCtgcttcaagcggcagccaga	6	9	10	16	2	1	1	1	0	0	1	4	1	3	1	5	2	3	2	5	2	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:45807217C>G	ENST00000372090.5	+	4	892	c.309C>G	c.(307-309)gcC>gcG	p.A103A	MUTYH_ENST00000450313.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000372100.5_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	103						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCCTCGCCTGCTTCAAGC	0.562																																						uc009vxq.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(307-309)gcC>gcG		Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.							59	57	58					1																	45807217		2203	4300	6503	SO:0001819	synonymous_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45807217C>G		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.309C>G	1.37:g.45807217C>G						MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.4_Non-coding_Transcript	p.A103A	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			3	892	+	Acute lymphoblastic leukemia(166;0.155)		103					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Silent	SNP	ENST00000372090.5	37	c.309C>G	CCDS521.1																																																																																				0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		G	45807217	C	G	45807217	2	3	257	1	0	0	0	0	0	0	0	1	16346	668	24	5		5	TOE1	1	45807217	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9780789	45807217	203443404	3	18304											
MCOLN3	55283	broad.mit.edu	37	chr1	85491656	85491656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatttttagaattgatccaAtgattgtcaatatgtcacta	13	16	5	7	0	2	3	2	2	0	1	3	3	3	3	2	0	0	0	2	0	6	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:85491656A>G	ENST00000370589.2	-	9	1113	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Missense_Mutation_p.I298T|MCOLN3_ENST00000370587.1_3'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	354					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATTGATCCAATGATTGTCAA	0.303																																						uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(1060-1062)aTt>aCt		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.							52	51	51					1																	85491656		2201	4299	6500	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85491656A>G	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1061T>C	1.37:g.85491656A>G	ENSP00000359621:p.Ile354Thr					MCOLN3_uc001dko.3_5'Flank|MCOLN3_uc001dkq.3_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.3_3'UTR|MCOLN3_uc001dks.4_Missense_Mutation_p.I199T	p.I354T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	8	1208	-			354					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1061T>C	CCDS701.1	.	.	.	.	.	.	.	.	.	.	A	8.756	0.922462	0.17982	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	D;D	0.84873	-1.91;-1.79	6.16	1.11	0.20524	.	0.626617	0.18735	N	0.132615	T	0.56572	0.1994	L	0.33624	1.015	0.30827	N	0.737123	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.30679	-0.9970	10	0.30078	T	0.28	-10.9167	6.5058	0.22194	0.6253:0.2419:0.1327:0.0	.	354;298;354	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	T	354;354;298;298	ENSP00000359621:I354T;ENSP00000342698:I298T	ENSP00000304843:I354T	I	-	2	0	MCOLN3	85264244	0.309000	0.24518	0.979000	0.43373	0.891000	0.51852	0.567000	0.23608	-0.052000	0.13311	0.528000	0.53228	ATT		0.303	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		G	85491656	A	G	85491656	3	3	257	1	0	0	0	0	1	0	0	0	9397	101	4	4	620	4	MCOLN3	1	85491656	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	39684439	85491656	163758965	4	18305											
HFM1	164045	broad.mit.edu	37	chr1	91739356	91739356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattataggcaattcagataTgtttaaatattctgaccttt	13	17	5	6	0	2	2	1	1	1	1	2	2	2	2	1	1	0	2	1	1	7	9			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:91739356T>C	ENST00000370425.3	-	34	3783	c.3685A>G	c.(3685-3687)Ata>Gta	p.I1229V	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.I908V|HFM1_ENST00000294696.5_Missense_Mutation_p.I461V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1229					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAGATATGTTTAAATAT	0.284																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3685-3687)Ata>Gta		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							99	91	94					1																	91739356		2203	4299	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91739356T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3685A>G	1.37:g.91739356T>C	ENSP00000359454:p.Ile1229Val					HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.I908V|HFM1_uc001dob.4_Missense_Mutation_p.I417V|HFM1_uc010osv.1_Missense_Mutation_p.I913V	p.I1229V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	33	3784	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1229					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3685A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	0.059	-1.229745	0.01518	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.63417	0.33;0.69;-0.04	5.84	0.598	0.17512	.	1.194200	0.05990	N	0.645909	T	0.30355	0.0762	L	0.53249	1.67	0.09310	N	1	B;B;B	0.20671	0.047;0.004;0.022	B;B;B	0.22152	0.038;0.004;0.016	T	0.13602	-1.0503	10	0.27082	T	0.32	.	3.2925	0.06954	0.2894:0.1619:0.0:0.5487	.	908;440;1229	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	V	1229;461;908	ENSP00000359454:I1229V;ENSP00000294696:I461V;ENSP00000359453:I908V	ENSP00000294696:I461V	I	-	1	0	HFM1	91511944	0.005000	0.15991	0.011000	0.14972	0.015000	0.08874	0.360000	0.20250	-0.150000	0.11195	-0.290000	0.09829	ATA		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		C	91739356	T	C	91739356	3	2	257	1	0	0	0	0	1	0	0	0	7083	1464	51	4	646	4	HFM1	1	91739356	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	6247700	91739356	157511265	5	18306											
DPYD	1806	broad.mit.edu	37	chr1	97847978	97847978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaagttccgtccagtCatttttattgtaactgcaca	9	15	7	10	1	1	0	1	0	0	0	3	0	3	0	2	1	2	4	2	1	3	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:97847978C>A	ENST00000370192.3	-	15	2045	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	649					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCCGTCCAGTCATTTTTATTG	0.279																																						uc001drv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1945-1947)Gac>Tac		Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	Capecitabine(DB01101)|Enfuvirtide(DB00109)						51	51	51					1																	97847978		2202	4292	6494	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97847978C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1945G>T	1.37:g.97847978C>A	ENSP00000359211:p.Asp649Tyr						p.D649Y	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	14	2082	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	649					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1945G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283848	0.59867	.	.	ENSG00000188641	ENST00000370192	D	0.90261	-2.64	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98115	1.0422	10	0.87932	D	0	-21.6651	19.6689	0.95903	0.0:1.0:0.0:0.0	.	649	Q12882	DPYD_HUMAN	Y	649	ENSP00000359211:D649Y	ENSP00000359211:D649Y	D	-	1	0	DPYD	97620566	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.686000	0.74548	2.642000	0.89623	0.655000	0.94253	GAC		0.279	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		A	97847978	C	A	97847978	3	1	257	1	0	0	0	0	1	0	0	0	4745	826	29	5	1168	5	DPYD	1	97847978	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	6108622	97847978	151402643	6	18307											
RORC	6097	broad.mit.edu	37	chr1	151787517	151787517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaaacgaagtccacatCggtcaggggtcagctggctg	10	7	12	12	2	3	0	3	0	0	0	5	1	4	0	2	4	2	2	2	4	3	0	rs200978307		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:151787517C>T	ENST00000318247.6	-	5	790	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.R282Q|RORC_ENST00000356728.6_Missense_Mutation_p.R207Q	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	228	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612													C|||	1	0.000199681	0	0	5008	,	,		20620	0.001		0	False		,,,				2504	0					uc001ezh.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(682-684)cGa>cAa		Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.							67	60	62					1																	151787517		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787517C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.683G>A	1.37:g.151787517C>T	ENSP00000327025:p.Arg228Gln					RORC_uc001ezg.3_Missense_Mutation_p.R207Q|RORC_uc010pdo.2_Missense_Mutation_p.R282Q|RORC_uc010pdp.2_Missense_Mutation_p.R228Q	p.R228Q	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	791	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		228			Hinge (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.683G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.214214	0.00289	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.93906	-3.29;-3.31;-3.29	4.45	1.52	0.23074	.	0.289710	0.30269	U	0.010014	T	0.60830	0.2299	N	0.16130	0.375	0.09310	N	1	B;B;B;B	0.12630	0.003;0.006;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.0;0.0	T	0.58381	-0.7646	10	0.02654	T	1	.	1.4817	0.02438	0.176:0.4663:0.1704:0.1872	.	228;282;228;207	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Q	207;282;228	ENSP00000349164:R207Q;ENSP00000376461:R282Q;ENSP00000327025:R228Q	ENSP00000327025:R228Q	R	-	2	0	RORC	150054141	0.002000	0.14202	0.023000	0.16930	0.062000	0.15995	0.023000	0.13533	0.136000	0.18733	-0.261000	0.10672	CGA		0.612	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			T	151787517	C	T	151787517	3	4	257	1	0	0	0	0	1	0	0	0	13530	884	31	2	901	2	RORC	1	151787517	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	53939539	151787517	97463104	7	18308											
NTRK1	4914	broad.mit.edu	37	chr1	156849919	156849919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatcttcacctacggcaaGcagccctggtaccagctctc	9	8	9	15	1	3	1	1	0	2	1	4	2	3	1	3	2	5	4	3	2	3	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:156849919G>A	ENST00000524377.1	+	16	2216	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	NTRK1_ENST00000368196.3_Silent_p.K719K|NTRK1_ENST00000392302.2_Silent_p.K689K|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Silent_p.K722K	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCTACGGCAAGCAGCCCTGGT	0.632			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2173-2175)aaG>aaA		Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	Imatinib(DB00619)						88	80	83					1																	156849919		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849919G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2175G>A	1.37:g.156849919G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	p.K725K	NM_002529	NP_002520	P04629	NTRK1_HUMAN			15	2231	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		725			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.2175G>A	CCDS1161.1																																																																																				0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		A	156849919	G	A	156849919	2	1	257	1	0	0	0	0	0	0	0	1	10706	962	34	3		3	NTRK1	1	156849919	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	5062402	156849919	92400702	8	18309											
SUCLG1	8802	broad.mit.edu	37	chr2	84676841	84676841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagagatgttgccgagaagCtgtgtaggaacaatgccgaa	14	8	13	6	2	0	2	0	0	0	2	0	6	0	3	2	1	4	3	2	1	6	3	rs559133044		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:84676841C>T	ENST00000393868.2	-	2	343	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	45					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCGAGAAGCTGTGTAGGAA	0.299																																					Ovarian(48;203 1101 37206 40305 50790)	uc002son.3																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(133-135)Gct>Act		Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						56	57	56					2																	84676841		2203	4299	6502	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84676841C>T	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.133G>A	2.37:g.84676841C>T	ENSP00000377446:p.Ala45Thr					SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	p.A45T	NM_003849	NP_003840	P53597	SUCA_HUMAN			1	326	-			45					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.133G>A	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383778	0.61845	.	.	ENSG00000163541	ENST00000393868	D	0.88046	-2.33	6.08	1.83	0.25207	.	0.324509	0.36665	N	0.002477	T	0.69672	0.3137	N	0.08118	0	0.41825	D	0.990041	B;B	0.22414	0.012;0.069	B;B	0.15870	0.002;0.014	T	0.56607	-0.7951	10	0.40728	T	0.16	-12.034	5.8368	0.18611	0.1556:0.6062:0.0:0.2382	.	45;45	B7Z438;P53597	.;SUCA_HUMAN	T	45	ENSP00000377446:A45T	ENSP00000377446:A45T	A	-	1	0	SUCLG1	84530352	0.988000	0.35896	0.170000	0.22879	0.448000	0.32197	2.937000	0.48979	0.074000	0.16767	0.655000	0.94253	GCT		0.299	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		T	84676841	C	T	84676841	3	4	257	1	0	0	0	0	1	0	0	0	15363	797	28	3	939	3	SUCLG1	2	84676841	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		84676841	158522532	9	18310											
C2orf55	343990	broad.mit.edu	37	chr2	99412664	99412664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcttccggtccacagCgggcttcacaggggttatca	6	9	11	15	2	2	0	2	0	0	0	4	0	4	0	4	4	2	3	4	4	1	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:99412664C>T	ENST00000397899.2	-	9	2999	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	890																	CGGTCCACAGCGGGCTTCACA	0.498																																						uc002szf.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(2668-2670)Gct>Act		Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.							138	135	136					2																	99412664		1885	4109	5994	SO:0001583	missense	343990							g.chr2:99412664C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2668G>A	2.37:g.99412664C>T	ENSP00000380996:p.Ala890Thr						p.A890T	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			8	2962	-			890						Missense_Mutation	SNP	ENST00000397899.2	37	c.2668G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	3.577	-0.086344	0.07097	.	.	ENSG00000196872	ENST00000397899	T	0.49432	0.78	5.17	-10.3	0.00346	.	0.957751	0.08627	N	0.917609	T	0.18341	0.0440	N	0.16478	0.41	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.08848	-1.0702	10	0.14252	T	0.57	6.4304	1.7216	0.02913	0.3349:0.0993:0.3343:0.2316	.	890	Q6NV74	CB055_HUMAN	T	890	ENSP00000380996:A890T	ENSP00000380996:A890T	A	-	1	0	C2orf55	98779096	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-5.126000	0.00149	-3.326000	0.00186	-0.300000	0.09419	GCT		0.498	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		T	99412664	C	T	99412664	3	4	257	1	0	0	0	0	1	0	0	0	2176	768	27	1	228	1	C2orf55	2	99412664	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	14735823	99412664	143786709	10	18311											
PCDP1	200373	broad.mit.edu	37	chr2	120362804	120362805	+	Frame_Shift_Ins	INS	-	-	CACT																															aacgagacagatgaaggaggINScactctttgaacagaaagtc																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:120362804_120362805insCACT	ENST00000413369.3	+	11	1159_1160	c.1072_1073insCACT	c.(1072-1074)gcafs	p.-359fs	PCDP1_ENST00000602047.1_Frame_Shift_Ins_p.-73fs|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GATGAAGGAGGCACTCTTTGAA	0.386																																						uc002tmb.3																			0											c.(214-216)gcafs		Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.																																				SO:0001589	frameshift_variant	200373					cilium	calmodulin binding	g.chr2:120362804_120362805insCACT																												ENST00000413369.3:c.1073_1076dupCACT	2.37:g.120362805_120362808dupCACT	ENSP00000393222:p.Leu359fs					PCDP1_uc010yyq.2_Frame_Shift_Ins_p.A202fs	p.A72fs	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			11	1326_1327	+	Colorectal(110;0.196)		358						Frame_Shift_Ins	INS	ENST00000413369.3	37	c.214_215insCACT	CCDS33282.2																																																																																				0.386	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			CACT	120362805	-	CACT	120362804	7	5	257	1	0	1	1	0	0	0	0	0	11572	1203	42	0	224	0	PCDP1	2	120362804	Frame_Shift_Ins	INS	-	TCGA-76-4925-01A-01D-1486-08	20950140	120362804	122836569	11	18312											
THSD7B	80731	broad.mit.edu	37	chr2	137928455	137928455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatctgtttccctgatcatgGaaaatgtggcctgggacatc	9	12	11	9	0	2	1	1	1	1	0	4	4	3	3	2	3	0	1	2	3	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:137928455G>T	ENST00000409968.1	+	7	1848	c.1670G>T	c.(1669-1671)gGa>gTa	p.G557V	THSD7B_ENST00000272643.3_Missense_Mutation_p.G557V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G526V|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	557						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGATCATGGAAAATGTGGC	0.522																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1576-1578)gGa>gTa		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							109	102	104					2																	137928455		1999	4172	6171	SO:0001583	missense	80731							g.chr2:137928455G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1670G>T	2.37:g.137928455G>T	ENSP00000387145:p.Gly557Val					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416V	p.G526V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	5	1577	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1577G>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255294	0.80135	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24350	2.4;2.25;1.86	5.91	5.91	0.95273	.	0.196725	0.53938	D	0.000051	T	0.34308	0.0893	N	0.16862	0.45	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.974	T	0.05566	-1.0877	10	0.25106	T	0.35	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	557;526	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	557;557;526	ENSP00000387145:G557V;ENSP00000272643:G557V;ENSP00000413841:G526V	ENSP00000272643:G557V	G	+	2	0	THSD7B	137644925	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.518000	0.53451	2.793000	0.96121	0.655000	0.94253	GGA		0.522	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	137928455	G	T	137928455	3	4	257	1	0	0	0	0	1	0	0	0	15877	1174	41	5	1599	5	THSD7B	2	137928455	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	17565651	137928455	105270918	12	18313											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527058	64527058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtgtcacgtactctttGgggtggtcagagtgcatccc	7	11	12	11	1	3	1	2	0	1	1	4	1	4	1	2	3	2	2	2	3	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:64527058G>A	ENST00000498707.1	-	35	5667	c.5325C>T	c.(5323-5325)ccC>ccT	p.P1775P	ADAMTS9_ENST00000295903.4_Silent_p.P1747P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1775	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGTACTCTTTGGGGTGGTCAG	0.502																																						uc003dmg.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5323-5325)ccC>ccT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.							143	150	147					3																	64527058		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527058G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5325C>T	3.37:g.64527058G>A						ADAMTS9_uc011bfo.2_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	p.P1775P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	34	5357	-		Lung NSC(201;0.00682)	1775			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.5325C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164957	0.21538	.	.	ENSG00000163638	ENST00000481060	T	0.44083	0.93	5.75	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52011	-0.8632	7	0.87932	D	0	.	8.9099	0.35546	0.0:0.2257:0.501:0.2733	.	.	.	.	L	831	ENSP00000417521:P831L	ENSP00000417521:P831L	P	-	2	0	ADAMTS9	64502098	0.986000	0.35501	0.987000	0.45799	0.976000	0.68499	0.117000	0.15583	0.740000	0.32651	0.561000	0.74099	CCA		0.502	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			A	64527058	G	A	64527058	2	1	257	1	0	0	0	0	0	0	0	1	273	1335	47	3		3	ADAMTS9	3	64527058	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08		64527058	133495372	13	18314											
CNTN3	5067	broad.mit.edu	37	chr3	74334529	74334529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtaagcccggacagcCgtgtaataggccaggttgct	8	10	13	10	2	0	0	0	0	0	0	0	1	0	1	3	3	3	5	3	3	3	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:74334529C>T	ENST00000263665.6	-	19	2658	c.2631G>A	c.(2629-2631)acG>acA	p.T877T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	877	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGGACAGCCGTGTAATAGG	0.498																																						uc003dpm.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2629-2631)acG>acA		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.							160	146	151					3																	74334529		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334529C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2631G>A	3.37:g.74334529C>T							p.T877T	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2711	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	877			Fibronectin type-III 3.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2631G>A	CCDS33790.1																																																																																				0.498	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		T	74334529	C	T	74334529	2	4	257	1	0	0	0	0	0	0	0	1	3642	639	23	2		2	CNTN3	3	74334529	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9807471	74334529	123687901	14	18315											
POPDC2	64091	broad.mit.edu	37	chr3	119373376	119373376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccccctcctcagaaggCtgtagtgattcccactcagg	10	8	8	15	0	2	2	2	1	0	1	4	2	4	2	4	2	1	2	4	2	3	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:119373376C>T	ENST00000264231.3	-	2	742	c.576G>A	c.(574-576)caG>caA	p.Q192Q	POPDC2_ENST00000538678.1_Silent_p.Q192Q|POPDC2_ENST00000468801.1_Silent_p.Q192Q|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Silent_p.Q192Q	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	192					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTCAGAAGGCTGTAGTGATT	0.562																																						uc003ecx.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(574-576)caG>caA		Homo sapiens popeye domain containing 2 (POPDC2), mRNA.							90	84	86					3																	119373376		2203	4300	6503	SO:0001819	synonymous_variant	64091					integral to membrane		g.chr3:119373376C>T	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.576G>A	3.37:g.119373376C>T						POPDC2_uc010hqw.1_Silent_p.Q192Q|POPDC2_uc003ecy.1_Silent_p.Q10Q	p.Q192Q	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	1	710	-			192					Q86UE7	Silent	SNP	ENST00000264231.3	37	c.576G>A	CCDS2992.1																																																																																				0.562	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		T	119373376	C	T	119373376	2	4	257	1	0	0	0	0	0	0	0	1	12255	796	28	3		3	POPDC2	3	119373376	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	45038847	119373376	78649054	15	18316											
COPG	22820	broad.mit.edu	37	chr3	128982760	128982760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttaggtggtggttgtccAggccatcagtgccctgtgtc	5	13	13	10	0	1	0	1	0	0	0	3	0	2	0	3	4	1	1	3	4	1	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:128982760A>G	ENST00000314797.6	+	13	1246	c.1142A>G	c.(1141-1143)cAg>cGg	p.Q381R		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	381					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GTGGTTGTCCAGGCCATCAGT	0.537																																						uc003els.3																			0											c.(1141-1143)cAg>cGg		Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.							119	97	105					3																	128982760		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128982760A>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1142A>G	3.37:g.128982760A>G	ENSP00000325002:p.Gln381Arg					COPG1_uc010htb.3_Missense_Mutation_p.Q287R	p.Q381R	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			12	1242	+			381					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1142A>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650323	0.47362	.	.	ENSG00000181789	ENST00000314797	T	0.25579	1.79	5.95	5.95	0.96441	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.33147	0.0853	N	0.17631	0.505	0.58432	D	0.99999	P	0.49559	0.925	D	0.67900	0.954	T	0.08534	-1.0717	10	0.17832	T	0.49	-27.4262	14.3757	0.66874	1.0:0.0:0.0:0.0	.	381	Q9Y678	COPG_HUMAN	R	381	ENSP00000325002:Q381R	ENSP00000325002:Q381R	Q	+	2	0	COPG	130465450	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.265000	0.78442	2.279000	0.76181	0.533000	0.62120	CAG		0.537	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		G	128982760	A	G	128982760	3	3	257	1	0	0	0	0	1	0	0	0	3731	188	7	4	1192	4	COPG	3	128982760	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	9609384	128982760	69039670	16	18317											
ZIC1	7545	broad.mit.edu	37	chr3	147128086	147128086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcttcggccggccagacgGccttcacgtcgcaggcgcca	5	6	14	16	6	1	1	1	0	0	1	3	1	1	1	4	5	0	2	4	5	0	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:147128086G>A	ENST00000282928.4	+	1	916	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	63					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGCCAGACGGCCTTCACGTC	0.687																																						uc003ewe.3																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(187-189)Gcc>Acc		Homo sapiens Zic family member 1 (ZIC1), mRNA.							19	22	21					3																	147128086		2187	4290	6477	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128086G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.187G>A	3.37:g.147128086G>A	ENSP00000282928:p.Ala63Thr						p.A63T	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			0	906	+			63					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.187G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779676	0.70107	.	.	ENSG00000152977	ENST00000282928	D	0.86627	-2.15	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	L	0.42245	1.32	0.80722	D	1	B	0.33299	0.407	B	0.34093	0.175	D	0.84635	0.0692	10	0.56958	D	0.05	.	16.1771	0.81858	0.0:0.0:1.0:0.0	.	63	Q15915	ZIC1_HUMAN	T	63	ENSP00000282928:A63T	ENSP00000282928:A63T	A	+	1	0	ZIC1	148610776	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.180000	0.94867	1.806000	0.52798	0.442000	0.29010	GCC		0.687	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		A	147128086	G	A	147128086	3	1	257	1	0	0	0	0	1	0	0	0	17675	1203	42	3	189	3	ZIC1	3	147128086	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	18145326	147128086	50894344	17	18318											
MED12L	116931	broad.mit.edu	37	chr3	150906259	150906259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttttagatacacaggcccCctctttgtgtaagtagagaa	11	13	9	8	0	1	2	0	0	1	2	1	3	1	2	2	1	1	3	2	1	5	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:150906259C>T	ENST00000474524.1	+	12	1783	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	MED12L_ENST00000422248.2_Missense_Mutation_p.P582L|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.P442L|MED12L_ENST00000309237.4_Missense_Mutation_p.P582L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	582						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACAGGCCCCCTCTTTGTGT	0.343																																						uc003eyp.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1744-1746)cCc>cTc		Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.							179	177	177					3																	150906259		2202	4300	6502	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150906259C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1745C>T	3.37:g.150906259C>T	ENSP00000417235:p.Pro582Leu					MED12L_uc011bnz.2_Missense_Mutation_p.P442L|MED12L_uc003eyn.3_Missense_Mutation_p.P582L|MED12L_uc003eyo.3_Missense_Mutation_p.P582L	p.P582L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1874	+			582					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1745C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099272	0.94197	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.63	5.63	0.86233	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	D	0.83518	0.0084	10	0.87932	D	0	-19.053	19.2768	0.94034	0.0:1.0:0.0:0.0	.	442;582;582;582	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	582;582;582;442	ENSP00000403308:P582L;ENSP00000310760:P582L;ENSP00000417235:P582L;ENSP00000273432:P442L	ENSP00000273432:P442L	P	+	2	0	MED12L	152388949	1.000000	0.71417	0.931000	0.37212	0.986000	0.74619	6.812000	0.75226	2.653000	0.90120	0.650000	0.86243	CCC		0.343	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	150906259	C	T	150906259	3	4	257	1	0	0	0	0	1	0	0	0	9429	623	22	3	1791	3	MED12L	3	150906259	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	3778173	150906259	47116171	18	18319											
MAPKSP1	8649	broad.mit.edu	37	chr4	100805284	100805284	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacgattaaattgaaccaccTaaaaagaaaataagagccaa	23	6	5	7	1	0	3	0	1	0	2	0	4	0	3	3	0	3	0	3	0	11	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr4:100805284T>G	ENST00000499666.2	-	6	430		c.e6-2		LAMTOR3_ENST00000515100.1_Splice_Site|LAMTOR3_ENST00000226522.8_Splice_Site	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3						cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986)				endometrium(1)|large_intestine(1)|lung(1)	3						TTGAACCACCTAAAAAGAAAA	0.308																																						uc003hvg.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.e6-1		Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 (LAMTOR3), transcript variant 1, mRNA.							49	53	52					4																	100805284		2203	4298	6501	SO:0001630	splice_region_variant	8649				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	g.chr4:100805284T>G	AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270			15606	protein-coding gene	gene with protein product	"MEK partner 1"	603296	"mitogen-activated protein kinase kinase 1 interacting protein 1", "MAPK scaffold protein 1"	MAP2K1IP1, MAPKSP1		9733512, 15016825	Standard	NM_021970		Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.238-2A>C	4.37:g.100805284T>G						LAMTOR3_uc003hvh.2_Splice_Site_p.V73_splice|LAMTOR3_uc003hvi.2_Splice_Site	p.V80_splice	NM_021970	NP_068805	Q9UHA4	LTOR3_HUMAN			6	487	-			80					B2R4A1|J3KMX4|Q9H364	Splice_Site	SNP	ENST00000499666.2	37	c.238_splice	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986549	0.74589	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6795	0.69006	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMTOR3	101024307	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.791000	0.75120	2.114000	0.64651	0.482000	0.46254	.		0.308	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253698.2	NM_021970	Intron	G	100805284	T	G	100805284	5	3	257	1	0	0	0	0	0	0	1	0	9293	1536	53	5	146	5	MAPKSP1	4	100805284	Splice_Site	SNP	T	TCGA-76-4925-01A-01D-1486-08		100805284	90348992	19	18320											
MTMR12	54545	broad.mit.edu	37	chr5	32255876	32255876	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaagtatgctggcaatcTagaagaaagaaatgtcatca	19	8	8	6	0	3	3	2	0	1	3	3	3	3	3	0	1	2	3	0	1	8	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:32255876T>C	ENST00000382142.3	-	8	884		c.e8-2		MTMR12_ENST00000264934.5_Splice_Site|MTMR12_ENST00000280285.5_Splice_Site	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12							cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTGGCAATCTAGAAGAAAGA	0.418																																						uc003jhq.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e8-1		Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.							92	85	88					5																	32255876		2203	4300	6503	SO:0001630	splice_region_variant	54545					cytoplasm	phosphatase activity	g.chr5:32255876T>C	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.714-2A>G	5.37:g.32255876T>C						MTMR12_uc010iuk.3_Splice_Site_p.R238_splice|MTMR12_uc010iul.3_Splice_Site_p.R238_splice	p.R238_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			8	884	-			238			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	SNP	ENST00000382142.3	37	c.714_splice	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530688	0.64860	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTMR12	32291633	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.779000	0.62375	2.254000	0.74563	0.533000	0.62120	.		0.418	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	Intron	C	32255876	T	C	32255876	5	2	257	1	0	0	0	0	0	0	1	0	9941	1536	53	4	1567	4	MTMR12	5	32255876	Splice_Site	SNP	T	TCGA-76-4925-01A-01D-1486-08		32255876	148659384	20	18321											
SLCO6A1	133482	broad.mit.edu	37	chr5	101815988	101815988	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctacaaaccatattactTtttttctgtctccatagaat	13	16	3	9	0	2	1	0	0	2	1	3	1	2	1	2	0	4	1	2	0	7	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:101815988T>A	ENST00000506729.1	-	2	680	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.K170I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K170I|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K170I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.K170I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(508-510)aAa>aTa		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							114	118	117					5																	101815988		2203	4299	6502	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101815988T>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.509A>T	5.37:g.101815988T>A	ENSP00000421339:p.Lys170Ile					SLCO6A1_uc003kno.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.3_Missense_Mutation_p.K170I	p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	681	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	170					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.509A>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	5.871	0.344777	0.11126	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	4.56	-2.95	0.05564	Major facilitator superfamily domain, general substrate transporter (1);	0.550372	0.17369	N	0.176729	T	0.66877	0.2834	L	0.47716	1.5	0.09310	N	1	B;B;B	0.22414	0.024;0.049;0.069	B;B;B	0.26517	0.039;0.07;0.027	T	0.57625	-0.7779	10	0.87932	D	0	.	1.1353	0.01754	0.1868:0.2683:0.1173:0.4275	.	170;170;170	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	170	ENSP00000421339:K170I;ENSP00000369135:K170I;ENSP00000373671:K170I;ENSP00000421990:K170I;ENSP00000369138:K170I	ENSP00000369135:K170I	K	-	2	0	SLCO6A1	101843887	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.198000	0.09505	-0.440000	0.07211	-0.256000	0.11100	AAA		0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101815988	T	A	101815988	3	1	257	1	0	0	0	0	1	0	0	0	14732	1841	64	5	1698	5	SLCO6A1	5	101815988	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	69560112	101815988	79099272	21	18322											
TRPC7	57113	broad.mit.edu	37	chr5	135692995	135692995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacatgtaggcgggaccCcggatggcctggcgacggcc	7	6	16	12	4	0	1	0	1	0	0	0	4	0	3	4	6	1	1	4	6	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:135692995C>T	ENST00000513104.1	-	2	363	c.81G>A	c.(79-81)cgG>cgA	p.R27R	TRPC7_ENST00000426057.2_Silent_p.R27R|TRPC7_ENST00000355180.3_Silent_p.R27R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	27					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCGGGACCCCGGATGGCCT	0.612																																						uc003lbn.2																			0		p.R27Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(79-81)cgG>cgA		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							52	60	57					5																	135692995		2114	4238	6352	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692995C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.81G>A	5.37:g.135692995C>T						TRPC7_uc010jef.2_Silent_p.R18R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R27R|TRPC7_uc010jei.2_Silent_p.R27R	p.R27R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	303	-			27					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.81G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	c	9.031	0.987222	0.18889	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.38	-5.0	0.03001	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37150	-0.9718	4	.	.	.	-18.7042	3.2559	0.06831	0.084:0.3601:0.206:0.3499	.	.	.	.	R	27	.	.	G	-	1	0	TRPC7	135720894	0.011000	0.17503	0.865000	0.33974	0.971000	0.66376	-0.959000	0.03853	-0.967000	0.03582	-0.766000	0.03442	GGG		0.612	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135692995	C	T	135692995	2	4	257	1	0	0	0	0	0	0	0	1	16581	610	22	3		3	TRPC7	5	135692995	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	33877007	135692995	45222265	22	18323											
PCDHA3	56145	broad.mit.edu	37	chr5	140182972	140182972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgccgccaaccgaaggCgactgtgggccgggcaagcc	7	3	15	16	6	0	0	0	0	0	0	1	2	1	0	6	3	2	1	6	3	3	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:140182972C>T	ENST00000522353.2	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.G730G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	730					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCGAAGGCGACTGTGGGC	0.642																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2188-2190)ggC>ggT		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							76	82	80					5																	140182972		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140182972C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2190C>T	5.37:g.140182972C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G730G	p.G730G	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2190	+			738					O75286	Silent	SNP	ENST00000522353.2	37	c.2190C>T	CCDS54915.1																																																																																				0.642	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140182972	C	T	140182972	2	4	257	1	0	0	0	0	0	0	0	1	11525	755	27	1		1	PCDHA3	5	140182972	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	4489977	140182972	40732288	23	18324											
ZFP57	4340	broad.mit.edu	37	chr6	29641071	29641071	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctggtggcgtttgagctCagactggtcccggaagctct	5	12	13	11	2	3	2	1	1	2	1	4	3	4	3	1	4	2	3	1	4	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:29641071C>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.E253Q|ZFP57_ENST00000376883.1_Missense_Mutation_p.E253Q|ZFP57_ENST00000488757.1_Missense_Mutation_p.E273Q	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CGTTTGAGCTCAGACTGGTCC	0.552																																						uc011dlw.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(817-819)Gag>Cag		Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.							127	138	134					6																	29641071		1314	2577	3891	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641071C>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641071C>G							p.E273Q	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			3	968	-			189					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.817G>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384241	0.61845	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.51817	0.69;0.69;0.69	4.64	4.64	0.57946	.	0.000000	0.48767	D	0.000176	T	0.20414	0.0491	N	0.10945	0.07	0.09310	N	0.999995	P;P	0.51147	0.942;0.942	P;P	0.52957	0.714;0.714	T	0.05084	-1.0907	10	0.13853	T	0.58	-36.7201	11.1238	0.48306	0.0:0.8129:0.1871:0.0	.	273;253	Q9NU63-3;Q9NU63-2	.;.	Q	273;253;253	ENSP00000418259:E273Q;ENSP00000366078:E253Q;ENSP00000366080:E253Q	ENSP00000366078:E253Q	E	-	1	0	ZFP57	29749050	0.000000	0.05858	0.992000	0.48379	0.977000	0.68977	0.012000	0.13287	2.559000	0.86315	0.563000	0.77884	GAG		0.552	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		G	29641071	C	G	29641071	1	3	257	0	1	0	0	0	0	0	0	0	17648	835	29	5		5	ZFP57	6	29641071	IGR	SNP	C	TCGA-76-4925-01A-01D-1486-08		29641071	141473996	24	18325											
C6orf127	340204	broad.mit.edu	37	chr6	35754859	35754859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgcgagtcgcactgcGcggagaaggggtccgagggc	9	5	17	10	5	0	1	0	0	0	1	2	4	1	1	1	4	2	1	1	4	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:35754859G>A	ENST00000373861.5	+	2	278	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	CLPSL1_ENST00000542261.1_Missense_Mutation_p.A61T			A2RUU4	COLL1_HUMAN	colipase-like 1	62					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GTCGCACTGCGCGGAGAAGGG	0.662																																						uc003old.4																			0											c.(184-186)Gcg>Acg		Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.							26	35	32					6																	35754859		2153	4249	6402	SO:0001583	missense	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754859G>A		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 127"	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.184G>A	6.37:g.35754859G>A	ENSP00000362968:p.Ala62Thr						p.A62T	NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN			1	241	+			62					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	c.184G>A	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	G	9.410	1.080240	0.20309	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.34472	1.36;1.36	2.05	-4.09	0.03951	.	1.356420	0.05734	N	0.600012	T	0.06050	0.0157	N	0.16790	0.44	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.21518	-1.0243	10	0.33940	T	0.23	.	5.1482	0.14996	0.6169:0.0:0.2062:0.1769	.	62	A2RUU4	CF127_HUMAN	T	62;62;61;15	ENSP00000362968:A62T;ENSP00000438478:A61T	ENSP00000362967:A62T	A	+	1	0	C6orf127	35862837	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	-3.126000	0.00593	-2.182000	0.00764	-0.459000	0.05422	GCG		0.662	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		A	35754859	G	A	35754859	3	1	257	1	0	0	0	0	1	0	0	0	2327	1087	38	1	190	1	C6orf127	6	35754859	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	6113788	35754859	135360208	25	18326											
STXBP5	134957	broad.mit.edu	37	chr6	147704054	147704054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcactagatgaaagaGggcagaaacttggcgatctg	12	7	15	7	1	1	4	0	1	1	3	1	5	1	4	0	4	1	3	0	4	3	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:147704054G>C	ENST00000321680.6	+	27	3334	c.3334G>C	c.(3334-3336)Ggg>Cgg	p.G1112R	STXBP5_ENST00000179882.6_Missense_Mutation_p.G767R|STXBP5_ENST00000367481.3_Missense_Mutation_p.G1076R|STXBP5_ENST00000367480.3_Missense_Mutation_p.G1059R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1112	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGATGAAAGAGGGCAGAAACT	0.483																																						uc003qlz.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(3334-3336)Ggg>Cgg		Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.							117	114	115					6																	147704054		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147704054G>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3334G>C	6.37:g.147704054G>C	ENSP00000321826:p.Gly1112Arg					STXBP5_uc010khz.2_Missense_Mutation_p.G1076R|STXBP5_uc003qly.3_Missense_Mutation_p.G767R	p.G1112R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	26	3509	+		Ovarian(120;0.0164)	1112			v-SNARE coiled-coil homology.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.3334G>C	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679711	0.88542	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27720	1.78;1.65;1.96;2.65	5.41	5.41	0.78517	Synaptobrevin (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65138	-0.6241	10	0.87932	D	0	.	19.554	0.95333	0.0:0.0:1.0:0.0	.	1076;1112;767	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	R	1076;1112;1059;767	ENSP00000356451:G1076R;ENSP00000321826:G1112R;ENSP00000356450:G1059R;ENSP00000179882:G767R	ENSP00000179882:G767R	G	+	1	0	STXBP5	147745747	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.810000	0.99221	2.702000	0.92279	0.585000	0.79938	GGG		0.483	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			C	147704054	G	C	147704054	3	2	257	1	0	0	0	0	1	0	0	0	15355	1000	35	5	3440	5	STXBP5	6	147704054	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	111949195	147704054	23411013	26	18327											
NDUFA4	4697	broad.mit.edu	37	chr7	10979661	10979661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcggatgcttcttggcCtgaccgatgatctggcggag	6	10	14	11	4	2	2	0	2	2	0	3	5	2	4	2	4	1	2	2	4	0	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:10979661C>G	ENST00000339600.5	-	1	222	c.24G>C	c.(22-24)caG>caC	p.Q8H	NDUFA4_ENST00000492822.1_5'UTR|RP5-855F16.1_ENST00000604183.1_lincRNA	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	8					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCTTCTTGGCCTGACCGATGA	0.547																																						uc003srx.2																			0				large_intestine(2)|lung(1)	3						c.(22-24)caG>caC		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						199	175	183					7																	10979661		2203	4300	6503	SO:0001583	missense	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979661C>G	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit"	603833	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.24G>C	7.37:g.10979661C>G	ENSP00000339720:p.Gln8His						p.Q8H	NM_002489	NP_002480	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	0	153	-			8					A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	c.24G>C	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	C	7.848	0.723327	0.15439	.	.	ENSG00000189043	ENST00000339600	T	0.77489	-1.1	4.9	4.01	0.46588	.	0.064498	0.64402	D	0.000005	T	0.64571	0.2610	.	.	.	0.33484	D	0.587895	B	0.02656	0.0	B	0.01281	0.0	T	0.65792	-0.6082	9	0.32370	T	0.25	-6.7979	8.4747	0.33005	0.0:0.8921:0.0:0.1079	.	8	O00483	NDUA4_HUMAN	H	8	ENSP00000339720:Q8H	ENSP00000339720:Q8H	Q	-	3	2	NDUFA4	10946186	0.998000	0.40836	0.986000	0.45419	0.217000	0.24651	0.235000	0.17948	1.394000	0.46624	0.585000	0.79938	CAG		0.547	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489		G	10979661	C	G	10979661	3	3	257	1	0	0	0	0	1	0	0	0	10266	680	24	5	237	5	NDUFA4	7	10979661	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		10979661	148159002	27	18328											
DNAH11	8701	broad.mit.edu	37	chr7	21611464	21611464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatttgaaaagctggaaaGactggaatttggtggtacca	14	10	13	4	0	0	2	0	1	0	1	0	5	0	5	1	5	2	2	1	5	6	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:21611464G>A	ENST00000409508.3	+	8	1497	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K	DNAH11_ENST00000328843.6_Missense_Mutation_p.R489K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	489	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGGAAAGACTGGAATTT	0.353									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1465-1467)aGa>aAa		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							86	82	83					7																	21611464		1808	4071	5879	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21611464G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1466G>A	7.37:g.21611464G>A	ENSP00000475939:p.Arg489Lys						p.R489K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			7	1497	+			489			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1466G>A		.	.	.	.	.	.	.	.	.	.	G	7.931	0.740776	0.15642	.	.	ENSG00000105877	ENST00000328843	T	0.52057	0.68	5.87	4.99	0.66335	Dynein heavy chain, domain-1 (1);	0.161343	0.51477	N	0.000082	T	0.15392	0.0371	N	0.01493	-0.835	0.30082	N	0.809069	B	0.20550	0.046	B	0.17098	0.017	T	0.31530	-0.9940	10	0.02654	T	1	.	6.824	0.23872	0.2249:0.0:0.7751:0.0	.	489	Q96DT5	DYH11_HUMAN	K	489	ENSP00000330671:R489K	ENSP00000330671:R489K	R	+	2	0	DNAH11	21577989	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.236000	0.58675	2.785000	0.95823	0.655000	0.94253	AGA		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21611464	G	A	21611464	3	1	257	1	0	0	0	0	1	0	0	0	4599	942	33	3	1496	3	DNAH11	7	21611464	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	10631803	21611464	137527199	28	18329											
CHN2	1124	broad.mit.edu	37	chr7	29539565	29539565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagaggatcaagaaagtGtactgttgtgacctcacaac	14	9	9	9	0	3	3	3	1	0	2	3	4	3	4	1	1	2	2	1	1	5	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:29539565G>A	ENST00000222792.6	+	9	1352	c.822G>A	c.(820-822)gtG>gtA	p.V274V	CHN2_ENST00000409041.4_Silent_p.V138V|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Silent_p.V130V|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000424025.2_Silent_p.V93V|CHN2_ENST00000495789.2_Silent_p.V287V|CHN2_ENST00000439711.2_Silent_p.V138V|CHN2_ENST00000539406.1_Silent_p.V349V|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Silent_p.V259V	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	274					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCAAGAAAGTGTACTGTTGTG	0.448																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(820-822)gtG>gtA		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							122	104	110					7																	29539565		2203	4300	6503	SO:0001819	synonymous_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539565G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.822G>A	7.37:g.29539565G>A						CHN2_uc011jzs.2_Silent_p.V349V|CHN2_uc010kva.3_Silent_p.V44V|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.V239V|CHN2_uc011jzt.2_Silent_p.V287V|CHN2_uc010kvd.3_Silent_p.V130V|CHN2_uc011jzu.2_Silent_p.V259V|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Silent_p.V138V|CHN2_uc010kve.3_Silent_p.V138V|CHN2_uc003taa.3_Silent_p.V138V|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Silent_p.V138V|CHN2_uc010kvj.3_Silent_p.V93V|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Silent_p.V93V|CHN2_uc011jzv.2_Silent_p.V67V	p.V274V	NM_004067	NP_004058	P52757	CHIO_HUMAN			8	1259	+			274					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	c.822G>A	CCDS5420.1																																																																																				0.448	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		A	29539565	G	A	29539565	2	1	257	1	0	0	0	0	0	0	0	1	3363	1364	48	3		3	CHN2	7	29539565	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	7928101	29539565	129599098	29	18330											
ELN	2006	broad.mit.edu	37	chr7	73472022	73472022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgccaaagccgcccaGtttggtaagtccccctcacc	8	6	9	18	2	1	0	1	0	0	0	2	0	2	0	7	1	2	3	7	1	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:73472022G>A	ENST00000252034.7	+	22	1809	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	ELN_ENST00000458204.1_Silent_p.Q460Q|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000358929.4_Silent_p.Q499Q|ELN_ENST00000445912.1_Silent_p.Q470Q|ELN_ENST00000380553.4_Intron|ELN_ENST00000357036.5_Silent_p.Q475Q|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Silent_p.Q470Q|ELN_ENST00000380576.5_Intron|ELN_ENST00000320399.6_Silent_p.Q470Q|ELN_ENST00000320492.7_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AAGCCGCCCAGTTTGGTAAGT	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															uc003tzw.3				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1408-1410)caG>caA		Homo sapiens elastin (ELN), transcript variant 1, mRNA.	Rofecoxib(DB00533)						30	32	32					7																	73472022		2202	4298	6500	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73472022G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1410G>A	7.37:g.73472022G>A						ELN_uc003tzn.3_Silent_p.Q470Q|ELN_uc003tzy.3_Intron|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Intron|ELN_uc003tzt.3_Silent_p.Q475Q|ELN_uc003tzu.3_Intron|ELN_uc003tzv.3_Intron|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.Q460Q|ELN_uc011kff.2_Silent_p.Q470Q	p.Q470Q	NM_000501	NP_001075224	P15502	ELN_HUMAN			21	1501	+		Lung NSC(55;0.159)	499			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1410G>A	CCDS5562.2																																																																																				0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73472022	G	A	73472022	2	1	257	1	0	0	0	0	0	0	0	1	5071	1020	36	3		3	ELN	7	73472022	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	43932457	73472022	85666641	30	18331											
GNAT3	346562	broad.mit.edu	37	chr7	80091548	80091548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagatatcttttttgttgagGaacaggacaatggaggttgt	12	14	12	3	0	1	2	0	1	1	1	1	5	1	5	0	4	1	2	0	4	4	6			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:80091548G>C	ENST00000398291.3	-	7	894	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	267					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTTGTTGAGGAACAGGACAA	0.343																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(799-801)ttC>ttG		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							77	75	75					7																	80091548		1844	4088	5932	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091548G>C		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.801C>G	7.37:g.80091548G>C	ENSP00000381339:p.Phe267Leu					CD36_uc003uhc.3_Intron	p.F267L	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			6	801	-			267					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.801C>G	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154160	0.57259	.	.	ENSG00000214415	ENST00000398291	D	0.91068	-2.78	5.21	2.88	0.33553	.	0.057739	0.64402	U	0.000001	D	0.91597	0.7345	M	0.87547	2.89	0.80722	D	1	B	0.30104	0.268	B	0.39805	0.31	D	0.87066	0.2156	9	.	.	.	.	8.1124	0.30922	0.6482:0.0:0.3518:0.0	.	267	A8MTJ3	GNAT3_HUMAN	L	267	ENSP00000381339:F267L	.	F	-	3	2	GNAT3	79929484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.133000	0.57983	0.414000	0.25790	0.655000	0.94253	TTC		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		C	80091548	G	C	80091548	3	2	257	1	0	0	0	0	1	0	0	0	6513	1165	41	5	269	5	GNAT3	7	80091548	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	6619526	80091548	79047115	31	18332											
CALCR	799	broad.mit.edu	37	chr7	93091387	93091387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacttacaatgccttcctaTatttccaattcaaaggaaaa	15	14	3	9	0	1	0	1	0	0	0	3	1	3	1	3	1	3	0	3	1	9	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:93091387T>C	ENST00000421592.1	-	8	845	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	CALCR_ENST00000359558.2_Missense_Mutation_p.Y204C|CALCR_ENST00000360249.4_Missense_Mutation_p.Y186C|CALCR_ENST00000394441.1_Intron|CALCR_ENST00000426151.1_Intron			P30988	CALCR_HUMAN	calcitonin receptor	204					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TGCCTTCCTATATTTCCAATT	0.284																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(610-612)tAt>tGt		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						43	39	41					7																	93091387		1546	3535	5081	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93091387T>C	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000421592.1:c.557A>G	7.37:g.93091387T>C	ENSP00000399552:p.Tyr186Cys					CALCR_uc003umt.1_Intron|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Intron|CALCR_uc003umw.2_Intron	p.Y204C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		8	911	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		186					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000421592.1	37	c.611A>G		.	.	.	.	.	.	.	.	.	.	T	10.11	1.260128	0.23051	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592	T;T;T	0.49432	0.78;0.78;0.78	2.87	-1.0	0.10196	.	.	.	.	.	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17228	-1.0376	9	0.72032	D	0.01	.	2.2603	0.04065	0.2212:0.2644:0.0:0.5144	.	204	F5H605	.	C	204;186;186	ENSP00000352561:Y204C;ENSP00000353385:Y186C;ENSP00000399552:Y186C	ENSP00000352561:Y204C	Y	-	2	0	CALCR	92929323	0.017000	0.18338	0.001000	0.08648	0.004000	0.04260	-0.014000	0.12656	-0.202000	0.10268	0.533000	0.62120	TAT		0.284	CALCR-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000341741.1	NM_001742		C	93091387	T	C	93091387	3	2	257	1	0	0	0	0	1	0	0	0	2579	1406	49	4	947	4	CALCR	7	93091387	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	12999839	93091387	66047276	32	18333											
GRM8	2918	broad.mit.edu	37	chr7	126882860	126882860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggatctccattagcAcacttcacatccgaagcatc	11	10	8	12	1	2	0	1	0	1	0	5	2	3	1	2	2	2	2	2	2	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:126882860A>G	ENST00000339582.2	-	2	1207	c.399T>C	c.(397-399)tgT>tgC	p.C133C	GRM8_ENST00000358373.3_Silent_p.C133C|GRM8_ENST00000405249.1_Silent_p.C133C|GRM8_ENST00000444921.2_Silent_p.C133C			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	133					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTCCATTAGCACACTTCACAT	0.483										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(397-399)tgT>tgC		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						171	137	148					7																	126882860		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882860A>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.399T>C	7.37:g.126882860A>G		HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_Non-coding_Transcript	p.C133C	NM_000845	NP_000836	O00222	GRM8_HUMAN			0	710	-		Prostate(267;0.186)	133					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.399T>C	CCDS5794.1																																																																																				0.483	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			G	126882860	A	G	126882860	2	3	257	1	0	0	0	0	0	0	0	1	6803	157	6	4		4	GRM8	7	126882860	Silent	SNP	A	TCGA-76-4925-01A-01D-1486-08	33791473	126882860	32255803	33	18334											
TSGA13	114960	broad.mit.edu	37	chr7	130357671	130357671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttttttctgaggcatgcGgggcagccagaggttctcag	6	13	13	9	1	2	2	1	1	2	1	3	2	2	2	1	4	2	3	1	4	0	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:130357671G>A	ENST00000456951.1	-	7	1284	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TSGA13_ENST00000356588.3_Missense_Mutation_p.R145C			Q96PP4	TSG13_HUMAN	testis specific, 13	145										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGGCATGCGGGGCAGCCAG	0.473																																						uc003vqi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(433-435)Cgc>Tgc		Homo sapiens testis specific, 13 (TSGA13), mRNA.							134	127	129					7																	130357671		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130357671G>A	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.433C>T	7.37:g.130357671G>A	ENSP00000406047:p.Arg145Cys					TSGA13_uc003vqj.3_Missense_Mutation_p.R145C	p.R145C	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			5	890	-	Melanoma(18;0.0435)		145					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.433C>T	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278470	0.23307	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	4.92	-9.84	0.00479	.	2.414380	0.02014	N	0.047251	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.34722	0.188	T	0.32587	-0.9901	9	0.45353	T	0.12	10.8096	2.6258	0.04929	0.3478:0.3439:0.2021:0.1062	.	145	Q96PP4	TSG13_HUMAN	C	145	.	ENSP00000348996:R145C	R	-	1	0	TSGA13	130008211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.606000	0.05654	-2.439000	0.00551	-1.878000	0.00547	CGC		0.473	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		A	130357671	G	A	130357671	3	1	257	1	0	0	0	0	1	0	0	0	16616	1116	39	2	406	2	TSGA13	7	130357671	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	3474811	130357671	28780992	34	18335											
TRPV5	56302	broad.mit.edu	37	chr7	142625188	142625188	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcatccatacctctcGtttatcagaggagaccacaa	11	10	7	13	1	2	2	1	0	1	2	4	3	3	2	4	2	1	2	4	2	3	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:142625188G>A	ENST00000265310.1	-	7	1252	c.904C>T	c.(904-906)Cga>Tga	p.R302*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.R302*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	302					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R302R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATACCTCTCGTTTATCAGAG	0.527																																						uc003wby.1																			1	Substitution - coding silent(1)	p.R302R(2)	ovary(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(904-906)Cga>Tga		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							109	92	98					7																	142625188		2203	4300	6503	SO:0001587	stop_gained	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625188G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.904C>T	7.37:g.142625188G>A	ENSP00000265310:p.Arg302*					TRPV5_uc003wbz.3_Nonsense_Mutation_p.R302*	p.R302*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			6	1168	-	Melanoma(164;0.059)		302					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	37	c.904C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642436	0.96704	.	.	ENSG00000127412	ENST00000265310;ENST00000442623	.	.	.	4.36	3.45	0.39498	.	0.398859	0.25099	N	0.033141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-20.4747	10.5242	0.44938	0.0:0.0:0.488:0.512	.	.	.	.	X	302	.	ENSP00000265310:R302X	R	-	1	2	TRPV5	142335310	0.856000	0.29760	0.790000	0.31976	0.425000	0.31504	1.554000	0.36266	1.132000	0.42129	0.655000	0.94253	CGA		0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142625188	G	A	142625188	4	1	257	1	0	0	0	0	0	1	0	0	16596	1153	40	1	1321	1	TRPV5	7	142625188	Nonsense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	12267517	142625188	16513475	35	18336											
MLL3	58508	broad.mit.edu	37	chr7	151944990	151944990	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattaaaatcaccctacctgTttggaccgaggtctaccagg	11	10	8	12	1	2	0	1	0	1	0	2	2	2	1	4	3	2	1	4	3	4	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:151944990T>C	ENST00000262189.6	-	14	2747	c.2529A>G	c.(2527-2529)aaA>aaG	p.K843K	KMT2C_ENST00000355193.2_Silent_p.K843K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	843					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCTACCTGTTTGGACCGAG	0.368																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(2527-2529)aaA>aaG		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							109	99	102					7																	151944990		2203	4297	6500	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151944990T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2529A>G	7.37:g.151944990T>C							p.K843K	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	13	2748	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	843					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2529A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	9.816	1.184417	0.21870	.	.	ENSG00000055609	ENST00000418673	.	.	.	5.46	4.31	0.51392	.	.	.	.	.	T	0.62380	0.2423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59112	-0.7515	4	.	.	.	.	11.0134	0.47675	0.0:0.0727:0.0:0.9273	.	.	.	.	A	39	.	.	T	-	1	0	MLL3	151575923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.982000	0.40638	0.911000	0.36747	0.528000	0.53228	ACA		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151944990	T	C	151944990	2	2	257	1	0	0	0	0	0	0	0	1	9622	1722	60	4		4	MLL3	7	151944990	Silent	SNP	T	TCGA-76-4925-01A-01D-1486-08	9319802	151944990	7193673	36	18337											
EIF3H	8667	broad.mit.edu	37	chr8	117738327	117738327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaatttcaagccgatcttCtacaaccagacccaaaagca	15	8	6	12	1	3	1	1	0	2	1	3	2	3	1	3	1	4	2	3	1	6	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:117738327C>T	ENST00000276682.4	-	4	1025	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E73K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AGCCGATCTTCTACAACCAGA	0.403																																						uc003yob.3																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(259-261)Gaa>Aaa		Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.							188	154	165					8																	117738327		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117738327C>T	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.259G>A	8.37:g.117738327C>T	ENSP00000276682:p.Glu87Lys					EIF3H_uc003yoa.3_Missense_Mutation_p.E73K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	p.E87K	NM_003756	NP_003747	O15372	EIF3H_HUMAN			3	1026	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		73			MPN.			Missense_Mutation	SNP	ENST00000276682.4	37	c.259G>A		.	.	.	.	.	.	.	.	.	.	C	19.89	3.910632	0.72983	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518995;ENST00000522453;ENST00000520813	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.86	5.86	0.93980	.	0.155012	0.64402	D	0.000015	T	0.36496	0.0969	N	0.20845	0.615	0.80722	D	1	P;B;B	0.41080	0.737;0.285;0.183	B;B;B	0.37550	0.253;0.131;0.096	T	0.09164	-1.0687	10	0.28530	T	0.3	-25.6888	20.1859	0.98214	0.0:1.0:0.0:0.0	.	73;87;73	B4DJN9;B3KS98;O15372	.;.;EIF3H_HUMAN	K	73;87;89;73;87	ENSP00000429931:E73K;ENSP00000276682:E87K;ENSP00000428669:E89K;ENSP00000428885:E73K;ENSP00000427908:E87K	ENSP00000276682:E87K	E	-	1	0	EIF3H	117807508	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.792000	0.85828	2.777000	0.95525	0.591000	0.81541	GAA		0.403	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		T	117738327	C	T	117738327	3	4	257	1	0	0	0	0	1	0	0	0	5018	922	32	3	869	3	EIF3H	8	117738327	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		117738327	28625695	37	18338											
FAM83H	286077	broad.mit.edu	37	chr8	144808899	144808899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaccggactacccctgCgctcggggtaggctgaggtg	5	6	18	12	3	0	1	0	1	0	0	1	2	0	2	3	7	2	4	3	7	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:144808899C>T	ENST00000388913.3	-	5	2857	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	911					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTACCCCTGCGCTCGGGGTA	0.682																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(2731-2733)cGc>cAc		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							11	12	12					8																	144808899		1896	4087	5983	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808899C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2732G>A	8.37:g.144808899C>T	ENSP00000373565:p.Arg911His						p.R911H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	2801	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		911					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2732G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	5.442	0.266653	0.10294	.	.	ENSG00000180921	ENST00000388913	T	0.15487	2.42	4.95	-0.437	0.12272	.	1.193640	0.06516	U	0.738878	T	0.12135	0.0295	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35748	-0.9776	10	0.42905	T	0.14	.	5.4834	0.16737	0.1257:0.459:0.0:0.4153	.	911	Q6ZRV2	FA83H_HUMAN	H	911	ENSP00000373565:R911H	ENSP00000373565:R911H	R	-	2	0	FAM83H	144880887	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-1.970000	0.01504	-0.421000	0.07416	-0.449000	0.05564	CGC		0.682	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144808899	C	T	144808899	3	4	257	1	0	0	0	0	1	0	0	0	5640	768	27	1	811	1	FAM83H	8	144808899	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	27070572	144808899	1555123	38	18339											
DENND4C	55667	broad.mit.edu	37	chr9	19305352	19305352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaactttttccccagatGatctttccatttcagtggca	10	16	5	10	0	2	2	1	1	1	1	4	2	4	2	3	1	1	1	3	1	2	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:19305352G>A	ENST00000380432.2	+	6	639	c.606G>A	c.(604-606)atG>atA	p.M202I	DENND4C_ENST00000602925.1_Missense_Mutation_p.M438I|DENND4C_ENST00000434457.2_Missense_Mutation_p.M438I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	202	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCCCAGATGATCTTTCCAT	0.343																																						uc003znq.3																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(604-606)atG>atA		Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.							139	138	139					9																	19305352		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19305352G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.606G>A	9.37:g.19305352G>A	ENSP00000369797:p.Met202Ile					DENND4C_uc011lnc.2_5'UTR	p.M202I	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			5	686	+			202			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.606G>A		.	.	.	.	.	.	.	.	.	.	G	18.85	3.710764	0.68730	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.71	4.71	0.59529	DENN (3);	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	L	0.28776	0.89	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.66870	-0.5814	9	0.44086	T	0.13	-15.772	17.8373	0.88701	0.0:0.0:1.0:0.0	.	202	Q5VZ89	DEN4C_HUMAN	I	202	.	ENSP00000369802:M202I	M	+	3	0	DENND4C	19295352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.407000	0.97325	2.441000	0.82636	0.585000	0.79938	ATG		0.343	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		A	19305352	G	A	19305352	3	1	257	1	0	0	0	0	1	0	0	0	4435	1290	45	3	628	3	DENND4C	9	19305352	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19305352	121908079	39	18340											
CYLC2	1539	broad.mit.edu	37	chr9	105763888	105763888	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaactttgggccatatgatAattacattccaggtaagaaa	16	12	7	6	0	0	2	0	1	0	1	1	2	1	2	2	2	2	1	2	2	7	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:105763888A>T	ENST00000374798.3	+	2	116	c.46A>T	c.(46-48)Aat>Tat	p.N16Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.N16Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	16					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GCCATATGATAATTACATTCC	0.259																																						uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(46-48)Aat>Tat		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							42	43	43					9																	105763888		2194	4288	6482	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105763888A>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.46A>T	9.37:g.105763888A>T	ENSP00000420256:p.Asn16Tyr						p.N16Y	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			1	116	+		all_hematologic(171;0.125)	16					B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.46A>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431911	0.62844	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.21543	2.0;2.0	4.64	4.64	0.57946	.	0.000000	0.39985	N	0.001205	T	0.43964	0.1271	M	0.76328	2.33	0.31740	N	0.63594	D	0.89917	1.0	D	0.80764	0.994	T	0.55560	-0.8122	10	0.87932	D	0	-65.6375	10.6381	0.45577	1.0:0.0:0.0:0.0	.	16	Q14093	CYLC2_HUMAN	Y	16	ENSP00000420256:N16Y;ENSP00000417674:N16Y	ENSP00000420256:N16Y	N	+	1	0	CYLC2	104803709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.792000	0.55476	2.086000	0.62901	0.528000	0.53228	AAT		0.259	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		T	105763888	A	T	105763888	3	4	257	1	0	0	0	0	1	0	0	0	4142	362	13	5	52	5	CYLC2	9	105763888	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	86458536	105763888	35449543	40	18341											
C9orf84	158401	broad.mit.edu	37	chr9	114466161	114466161	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttctacctagttttacCtgcaaaattatggcagtgtg	10	17	7	7	0	1	0	0	0	1	0	1	0	1	0	2	1	3	3	2	1	7	8			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:114466161C>A	ENST00000318737.4	-	20	2903	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	C9orf84_ENST00000374287.3_Splice_Site_p.Q925H|C9orf84_ENST00000394779.3_Splice_Site_p.Q886H|C9orf84_ENST00000394777.4_Splice_Site_p.Q851H	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	925										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAGTTTTACCTGCAAAATTA	0.318																																						uc004bfr.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.e20+1		Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.							72	71	71					9																	114466161		2203	4299	6502	SO:0001630	splice_region_variant	158401							g.chr9:114466161C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2775+1G>T	9.37:g.114466161C>A						C9orf84_uc011lwt.2_Intron|C9orf84_uc004bfq.3_Splice_Site_p.Q886_splice|C9orf84_uc010mug.3_Splice_Site_p.Q836_splice	p.Q925_splice	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			20	2910	-			925					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2775_splice	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791345	0.70452	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05382	3.45;3.48;3.46;3.46	5.34	5.34	0.76211	.	0.000000	0.45361	D	0.000367	T	0.16342	0.0393	L	0.34521	1.04	0.44587	D	0.997553	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.02885	-1.1098	9	.	.	.	-5.5014	16.8177	0.85738	0.0:1.0:0.0:0.0	.	851;925;886	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	H	886;851;539;925;925	ENSP00000378259:Q886H;ENSP00000378257:Q851H;ENSP00000363405:Q925H;ENSP00000322108:Q925H	.	Q	-	3	2	C9orf84	113505982	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.835000	0.69368	2.518000	0.84900	0.650000	0.86243	CAG		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	Missense_Mutation	A	114466161	C	A	114466161	5	1	257	1	0	0	0	0	0	0	1	0	2500	695	24	5	1587	5	C9orf84	9	114466161	Splice_Site	SNP	C	TCGA-76-4925-01A-01D-1486-08	8702273	114466161	26747270	41	18342											
ENG	2022	broad.mit.edu	37	chr9	130605418	130605418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacttcaaggatggcattGggggcctgagccacgcagcc	8	7	15	11	1	1	1	1	1	0	0	1	3	1	3	3	5	2	2	3	5	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:130605418G>A	ENST00000373203.4	-	2	574	c.174C>T	c.(172-174)ccC>ccT	p.P58P	RNA5SP296_ENST00000410523.1_RNA|ENG_ENST00000344849.3_Silent_p.P58P	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	58	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATGGCATTGGGGGCCTGAG	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(172-174)ccC>ccT		Homo sapiens endoglin (ENG), transcript variant 1, mRNA.							157	156	156					9																	130605418		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130605418G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.174C>T	9.37:g.130605418G>A						ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Silent_p.P58P|5S_rRNA_uc022bnt.1_5'Flank	p.P58P	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			1	587	-			58					Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.174C>T	CCDS48029.1																																																																																				0.602	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			A	130605418	G	A	130605418	2	1	257	1	0	0	0	0	0	0	0	1	5117	1335	47	3		3	ENG	9	130605418	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	16139257	130605418	10608013	42	18343											
MMRN2	79812	broad.mit.edu	37	chr10	88703548	88703548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttggtgtccacatcGgcttggagctctgagatcga	8	13	11	9	2	2	1	1	1	1	1	5	4	3	2	1	3	1	2	1	3	1	3	rs200423909		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:88703548G>A	ENST00000372027.5	-	6	1314	c.993C>T	c.(991-993)gcC>gcT	p.A331A	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	331					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTCCACATCGGCTTGGAGCT	0.622																																						uc001kea.3																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(991-993)gcC>gcT		Homo sapiens multimerin 2 (MMRN2), mRNA.							58	60	59					10																	88703548		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88703548G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.993C>T	10.37:g.88703548G>A						MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	p.A331A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			5	1120	-			331					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.993C>T	CCDS7379.1																																																																																				0.622	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		A	88703548	G	A	88703548	2	1	257	1	0	0	0	0	0	0	0	1	9671	1103	39	2		2	MMRN2	10	88703548	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08		88703548	46831199	43	18344											
PTEN	5728	broad.mit.edu	37	chr10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A																															tttgagttccctcagccgttINSacctgtgtgtggtgatatca																								rs587782341		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		67	Whole gene deletion(37)|Insertion - Frameshift(14)|Deletion - Frameshift(11)|Substitution - Nonsense(2)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.P248fs*5(13)|p.P246L(8)|p.R55fs*1(5)|p.L247*(5)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247F(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|breast(4)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CI043805	PTEN	I		c.(739-741)ttafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717715_89717716insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741dupA	10.37:g.89717716_89717716dupA	ENSP00000361021:p.Pro248fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L247fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1772_1773	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	247			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.740_741insA	CCDS31238.1																																																																																				0.406	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89717716	-	A	89717715	7	5	257	1	0	1	1	0	0	0	0	0	12738	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-76-4925-01A-01D-1486-08	1014167	89717715	45817032	44	18345											
ART1	417	broad.mit.edu	37	chr11	3681258	3681258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgggcagcggccagcGtccaccccggtgccaccagg	5	4	14	18	3	0	0	0	0	0	0	2	0	2	0	7	4	3	2	7	4	0	0	rs141732093	byFrequency	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:3681258G>A	ENST00000250693.1	+	3	610	c.509G>A	c.(508-510)cGt>cAt	p.R170H		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	170					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGCGGCCAGCGTCCACCCCGG	0.701																																						uc001lye.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(508-510)cGt>cAt		Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	Becaplermin(DB00102)						29	31	30					11																	3681258		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681258G>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.509G>A	11.37:g.3681258G>A	ENSP00000250693:p.Arg170His					ART1_uc009yeb.1_Missense_Mutation_p.R170H	p.R170H	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	2	610	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	170					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.509G>A	CCDS7744.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.302	0.241086	0.10077	.	.	ENSG00000129744	ENST00000250693	T	0.08807	3.05	4.98	-1.42	0.08913	.	1.246240	0.05071	N	0.481748	T	0.07324	0.0185	L	0.41710	1.295	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.42396	-0.9454	9	.	.	.	-1.4233	5.3585	0.16075	0.3162:0.4449:0.2389:0.0	.	170	P52961	NAR1_HUMAN	H	170	ENSP00000250693:R170H	.	R	+	2	0	ART1	3637834	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.392000	0.07314	-0.110000	0.12022	-0.444000	0.05651	CGT		0.701	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		A	3681258	G	A	3681258	3	1	257	1	0	0	0	0	1	0	0	0	997	1145	40	1	515	1	ART1	11	3681258	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		3681258	131325258	45	18346											
OR10A3	26496	broad.mit.edu	37	chr11	7960954	7960954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgatggcatttcccatcagGgtcaccacataaataactag	14	10	7	10	0	2	1	2	1	0	0	3	1	3	1	2	2	1	1	2	2	4	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:7960954G>A	ENST00000360759.3	-	1	187	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	38					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCCATCAGGGTCACCACAT	0.473																																						uc010rbi.2																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(112-114)acC>acT		Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.							101	98	99					11																	7960954		2201	4296	6497	SO:0001819	synonymous_variant	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960954G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.114C>T	11.37:g.7960954G>A							p.T38T	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	114	-			38					B9EH39|Q6IF58|Q96R11	Silent	SNP	ENST00000360759.3	37	c.114C>T	CCDS31421.1																																																																																				0.473	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		A	7960954	G	A	7960954	2	1	257	1	0	0	0	0	0	0	0	1	10891	1219	43	3		3	OR10A3	11	7960954	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	4279696	7960954	127045562	46	18347											
CALCA	796	broad.mit.edu	37	chr11	14991572	14991572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagcaggaggcgcgcttCgtcctcactgagcgtggccg	6	6	15	14	5	1	1	1	1	0	0	3	2	2	2	3	3	3	2	3	3	0	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:14991572C>T	ENST00000486207.1	-	2	144	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CALCA_ENST00000359642.3_Missense_Mutation_p.E46K|CALCA_ENST00000331587.4_Missense_Mutation_p.E46K|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.E46K|CALCA_ENST00000361010.3_Missense_Mutation_p.E46K			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	46					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						AGGCGCGCTTCGTCCTCACTG	0.642											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mlv.1																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(136-138)Gaa>Aaa		Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	Phentolamine(DB00692)						41	41	41					11																	14991572		2200	4294	6494	SO:0001583	missense	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14991572C>T	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.136G>A	11.37:g.14991572C>T	ENSP00000417833:p.Glu46Lys		OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	699	CALCA_uc001mlt.2_Missense_Mutation_p.E46K|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	p.E46K	NM_001741	NP_001732	P06881	CALCA_HUMAN			2	187	-			46					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.136G>A	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979664	0.53827	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.83	2.95	0.34219	.	0.239013	0.47852	D	0.000219	T	0.23249	0.0562	M	0.64676	1.99	0.45899	D	0.998749	P;P	0.47962	0.798;0.903	B;B	0.42282	0.168;0.382	T	0.03863	-1.0997	10	0.62326	D	0.03	-20.061	10.7645	0.46286	0.0:0.7971:0.1312:0.0717	.	46;46	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	K	46	ENSP00000417833:E46K;ENSP00000354286:E46K;ENSP00000352663:E46K;ENSP00000331746:E46K;ENSP00000379657:E46K	ENSP00000331746:E46K	E	-	1	0	CALCA	14948148	1.000000	0.71417	0.128000	0.21923	0.048000	0.14542	5.054000	0.64275	0.771000	0.33359	-0.889000	0.02933	GAA		0.642	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		T	14991572	C	T	14991572	3	4	257	1	0	0	0	0	1	0	0	0	2575	893	31	2	461	2	CALCA	11	14991572	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	7030618	14991572	120014944	47	18348											
SYT13	57586	broad.mit.edu	37	chr11	45274024	45274024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctagaggcacagatGtcccgtccaggcccaggcgg	8	4	13	16	2	0	2	0	0	0	2	2	2	2	2	5	4	1	1	5	4	1	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:45274024G>A	ENST00000020926.3	-	4	905	c.794C>T	c.(793-795)aCa>aTa	p.T265I	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	265					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGCACAGATGTCCCGTCCAG	0.647											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(793-795)aCa>aTa		Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.							54	57	56					11																	45274024		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274024G>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.794C>T	11.37:g.45274024G>A	ENSP00000020926:p.Thr265Ile		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.T121I	p.T265I	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN			3	920	-			265					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.794C>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584664	0.13749	.	.	ENSG00000019505	ENST00000020926	T	0.06528	3.29	5.85	-1.72	0.08107	C2 calcium/lipid-binding domain, CaLB (1);	0.924615	0.09252	N	0.827710	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48127	-0.9062	10	0.15499	T	0.54	.	11.0154	0.47685	0.5755:0.0:0.4245:0.0	.	265	Q7L8C5	SYT13_HUMAN	I	265	ENSP00000020926:T265I	ENSP00000020926:T265I	T	-	2	0	SYT13	45230600	0.001000	0.12720	0.011000	0.14972	0.104000	0.19210	-0.056000	0.11787	-0.316000	0.08690	-0.367000	0.07326	ACA		0.647	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		A	45274024	G	A	45274024	3	1	257	1	0	0	0	0	1	0	0	0	15466	1377	48	3	498	3	SYT13	11	45274024	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	30282452	45274024	89732492	48	18349											
OR8K3	219473	broad.mit.edu	37	chr11	56086116	56086116	+	Frame_Shift_Del	DEL	C	C	-																															ttgtgttcattggtagtgaaCtttttattctctcagccatg																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:56086116delC	ENST00000312711.1	+	1	334	c.334delC	c.(334-336)cttfs	p.L112fs		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378																																						uc010rjf.2																			0		p.L112R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(334-336)cttfs		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							98	96	97					11																	56086116		2201	4296	6497	SO:0001589	frameshift_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086116delC	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.334delC	11.37:g.56086116delC	ENSP00000323555:p.Leu112fs						p.L112fs	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	334	+	Esophageal squamous(21;0.00448)		112					Q6IFC4	Frame_Shift_Del	DEL	ENST00000312711.1	37	c.334delC	CCDS31527.1																																																																																				0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		-	56086116	C	-	56086116	7	5	257	1	0	1	0	1	0	0	0	0	11244	565	20	0	336	0	OR8K3	11	56086116	Frame_Shift_Del	DEL	C	TCGA-76-4925-01A-01D-1486-08	10812092	56086116	78920400	49	18350											
TCN1	6947	broad.mit.edu	37	chr11	59629066	59629066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggttgacaacttcggCggttgagtagttcccattga	9	12	13	7	2	0	3	0	3	0	0	2	4	1	3	1	3	1	4	1	3	3	6	rs77116206	byFrequency	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:59629066C>T	ENST00000257264.3	-	4	594	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	164	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAACTTCGGCGGTTGAGTAG	0.453													C|||	2	0.000399361	8e-04	0	5008	,	,		18242	0		0.001	False		,,,				2504	0					uc001noj.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(490-492)Gcc>Acc		Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						119	117	118					11																	59629066		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629066C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.490G>A	11.37:g.59629066C>T	ENSP00000257264:p.Ala164Thr						p.A164T	NM_001062	NP_001053	P20061	TCO1_HUMAN			3	588	-		all_epithelial(135;0.198)	164					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.490G>A	CCDS7978.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.304	-0.604040	0.03717	.	.	ENSG00000134827	ENST00000257264	T	0.35236	1.32	5.12	-8.08	0.01094	.	1.470240	0.04237	N	0.336276	T	0.09598	0.0236	N	0.02315	-0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.12766	T	0.61	.	0.2126	0.00158	0.2916:0.245:0.2362:0.2272	.	164	P20061	TCO1_HUMAN	T	164	ENSP00000257264:A164T	ENSP00000257264:A164T	A	-	1	0	TCN1	59385642	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.490000	0.02304	-0.922000	0.03789	-2.230000	0.00291	GCC		0.453	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		T	59629066	C	T	59629066	3	4	257	1	0	0	0	0	1	0	0	0	15703	768	27	1	835	1	TCN1	11	59629066	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	3542950	59629066	75377450	50	18351											
MTA2	9219	broad.mit.edu	37	chr11	62364206	62364206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accattcctccatctcatccCgacacagcaccgggcctccc	8	7	5	21	2	1	0	1	0	1	0	6	1	5	0	7	1	1	1	7	1	0	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:62364206C>T	ENST00000278823.2	-	9	1174	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	MTA2_ENST00000527204.1_Missense_Mutation_p.R89Q|MTA2_ENST00000524902.1_Missense_Mutation_p.R89Q	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	262					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CATCTCATCCCGACACAGCAC	0.542																																						uc001ntq.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(784-786)cGg>cAg		Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.							84	81	82					11																	62364206		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62364206C>T	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.785G>A	11.37:g.62364206C>T	ENSP00000278823:p.Arg262Gln					MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	p.R262Q	NM_004739	NP_004730	O94776	MTA2_HUMAN			8	1175	-			262					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.785G>A	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332469	0.95733	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.40225	1.04;1.04;1.04	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.65298	-0.6202	10	0.62326	D	0.03	-20.8698	16.9935	0.86360	0.0:1.0:0.0:0.0	.	262	O94776	MTA2_HUMAN	Q	262;89;89	ENSP00000278823:R262Q;ENSP00000431346:R89Q;ENSP00000431797:R89Q	ENSP00000278823:R262Q	R	-	2	0	MTA2	62120782	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.767000	0.85331	2.679000	0.91253	0.561000	0.74099	CGG		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		T	62364206	C	T	62364206	3	4	257	1	0	0	0	0	1	0	0	0	9909	652	23	2	1261	2	MTA2	11	62364206	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	2735140	62364206	72642310	51	18352											
SF1	7536	broad.mit.edu	37	chr11	64537728	64537728	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccgagcccctccgcttacTtgtaatctgcaggtggcttg	6	11	11	13	2	1	0	0	0	1	0	2	2	2	0	4	2	3	4	4	2	2	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:64537728T>C	ENST00000377390.3	-	4	726	c.389A>G	c.(388-390)aAa>aGa	p.K130R	SF1_ENST00000422298.2_Splice_Site_p.K15R|SF1_ENST00000227503.9_Splice_Site_p.K130R|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000433274.2_Splice_Site_p.K104R|SF1_ENST00000377394.3_Splice_Site_p.K130R|SF1_ENST00000377387.1_Splice_Site_p.K255R|SF1_ENST00000334944.5_Splice_Site_p.K130R	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	130					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCCGCTTACTTGTAATCTGC	0.532																																						uc001obb.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.e4+1		Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.							134	128	130					11																	64537728		2201	4297	6498	SO:0001630	splice_region_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537728T>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.389+1A>G	11.37:g.64537728T>C						SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Splice_Site_p.K104_splice|SF1_uc001oaz.2_Splice_Site_p.K255_splice|SF1_uc001oba.2_Splice_Site_p.K130_splice|SF1_uc001obd.2_Splice_Site_p.K130_splice|SF1_uc001obc.2_Splice_Site_p.K130_splice|SF1_uc001obe.2_Splice_Site_p.K15_splice|SF1_uc010rno.2_Splice_Site_p.K15_splice	p.K130_splice	NM_004630	NP_001171502	Q15637	SF01_HUMAN			4	841	-			130					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.389_splice	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.488353	0.26686	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.39787	1.09;1.13;1.12;1.06;1.09;1.15;1.11	5.95	5.95	0.96441	.	0.043504	0.85682	D	0.000000	T	0.35595	0.0937	N	0.25890	0.77	0.80722	D	1	P;P;P;P;P;P	0.47677	0.461;0.725;0.88;0.64;0.754;0.899	B;B;B;B;B;P	0.45119	0.134;0.23;0.325;0.174;0.325;0.47	T	0.07927	-1.0747	9	.	.	.	.	14.359	0.66757	0.0:0.0:0.0:1.0	.	15;130;130;130;130;255	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	R	255;130;130;130;130;15;104	ENSP00000366604:K255R;ENSP00000366607:K130R;ENSP00000227503:K130R;ENSP00000366611:K130R;ENSP00000334414:K130R;ENSP00000413084:K15R;ENSP00000396793:K104R	.	K	-	2	0	SF1	64294304	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.447000	0.80620	2.272000	0.75746	0.460000	0.39030	AAA		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	Missense_Mutation	C	64537728	T	C	64537728	5	2	257	1	0	0	0	0	0	0	1	0	14145	1623	56	4	1708	4	SF1	11	64537728	Splice_Site	SNP	T	TCGA-76-4925-01A-01D-1486-08	2173522	64537728	70468788	52	18353											
USP35	57558	broad.mit.edu	37	chr11	77921629	77921629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatctgtcagcaacgtcAcctccttcttccctaaggac	9	11	6	15	2	4	0	2	0	2	0	7	2	6	1	3	1	2	1	3	1	3	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:77921629A>C	ENST00000529308.1	+	10	2989	c.2728A>C	c.(2728-2730)Acc>Ccc	p.T910P	USP35_ENST00000526425.1_Missense_Mutation_p.T641P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.T496P|USP35_ENST00000530267.1_Missense_Mutation_p.T478P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	910	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAACGTCACCTCCTTCTT	0.572																																						uc021qny.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2728-2730)Acc>Ccc		Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.							131	128	129					11																	77921629		1975	4150	6125	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921629A>C	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2728A>C	11.37:g.77921629A>C	ENSP00000431876:p.Thr910Pro					USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.3_Missense_Mutation_p.T478P|USP35_uc010rsp.2_Missense_Mutation_p.T342P|USP35_uc001ozd.3_Missense_Mutation_p.T521P|USP35_uc001ozf.3_Missense_Mutation_p.T641P	p.T910P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	3084	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		910						Missense_Mutation	SNP	ENST00000529308.1	37	c.2728A>C	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563975	0.86335	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000012	T	0.49779	0.1577	L	0.52206	1.635	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51725	-0.8669	10	0.72032	D	0.01	-37.5352	14.6842	0.69037	1.0:0.0:0.0:0.0	.	910;496	Q9P2H5;E7EWV7	UBP35_HUMAN;.	P	478;910;496;641	ENSP00000435468:T478P;ENSP00000431876:T910P;ENSP00000400825:T496P;ENSP00000434942:T641P	ENSP00000400825:T496P	T	+	1	0	USP35	77599277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.908000	0.92640	2.054000	0.61138	0.459000	0.35465	ACC		0.572	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		C	77921629	A	C	77921629	3	2	257	1	0	0	0	0	1	0	0	0	17063	159	6	5	2762	5	USP35	11	77921629	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	13383901	77921629	57084887	53	18354											
MMP13	4322	broad.mit.edu	37	chr11	102822866	102822866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcaagacctaaggagtggCcgaactcatgcgcagcaaca	13	5	12	11	2	2	1	2	0	0	1	2	3	2	2	2	3	4	2	2	3	4	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:102822866C>T	ENST00000260302.3	-	5	702	c.674G>A	c.(673-675)gGc>gAc	p.G225D	MMP13_ENST00000340273.4_Missense_Mutation_p.G225D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	225	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G225F(1)|p.G225V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TAAGGAGTGGCCGAACTCATG	0.443																																						uc001phl.3																			2	Substitution - Missense(2)	p.G225F(2)|p.F224F(2)|p.G225V(2)	lung(2)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(673-675)gGc>gAc		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							178	167	171					11																	102822866		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822866C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.674G>A	11.37:g.102822866C>T	ENSP00000260302:p.Gly225Asp						p.G225D	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	4	703	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	225					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.674G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325364	0.95708	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90324	-2.65;-2.65	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	225	P45452	MMP13_HUMAN	D	225	ENSP00000260302:G225D;ENSP00000339672:G225D	ENSP00000260302:G225D	G	-	2	0	MMP13	102328076	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.866000	0.98385	0.650000	0.86243	GGC		0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		T	102822866	C	T	102822866	3	4	257	1	0	0	0	0	1	0	0	0	9652	739	26	3	765	3	MMP13	11	102822866	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	24901237	102822866	32183650	54	18355											
IQSEC3	440073	broad.mit.edu	37	chr12	247574	247574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagagccgcctgccaCggcggatctccctgcgcaag	6	7	13	15	4	2	1	0	0	2	1	3	3	2	2	4	3	3	1	4	3	1	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:247574C>T	ENST00000538872.1	+	4	1163	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	IQSEC3_ENST00000382841.2_Missense_Mutation_p.R46W|IQSEC3_ENST00000326261.4_Missense_Mutation_p.R349W|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	349					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGCCTGCCACGGCGGATCTC	0.667																																						uc001qhw.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1045-1047)Cgg>Tgg		Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.							18	18	18					12																	247574		2189	4287	6476	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247574C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1045C>T	12.37:g.247574C>T	ENSP00000437554:p.Arg349Trp					IQSEC3_uc001qhu.1_Missense_Mutation_p.R46W|LOC574538_uc001qhv.1_Non-coding_Transcript	p.R349W	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	3	1045	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		349					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1045C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369782	0.95900	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.80480	-1.38;-1.38;-1.38	5.29	5.29	0.74685	.	0.106892	0.64402	D	0.000003	D	0.90452	0.7010	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91573	0.5273	10	0.87932	D	0	.	18.9415	0.92607	0.0:1.0:0.0:0.0	.	349;46	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	W	349;349;46	ENSP00000437554:R349W;ENSP00000315662:R349W;ENSP00000372292:R46W	ENSP00000315662:R349W	R	+	1	2	IQSEC3	117835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.615000	0.61190	2.475000	0.83589	0.462000	0.41574	CGG		0.667	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		T	247574	C	T	247574	3	4	257	1	0	0	0	0	1	0	0	0	7819	527	19	1	1059	1	IQSEC3	12	247574	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		247574	133604321	55	18356											
CLEC4C	170482	broad.mit.edu	37	chr12	7898972	7898972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaggagcaagatggataCgactgccatggaccagacct	13	6	12	10	1	0	3	0	1	0	2	0	7	0	6	3	3	3	1	3	3	2	1	rs370896266		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:7898972C>T	ENST00000542353.1	-	3	569	c.79G>A	c.(79-81)Gta>Ata	p.V27I	CLEC4C_ENST00000540085.1_Intron|CLEC4C_ENST00000354629.5_Intron|CLEC4C_ENST00000360345.3_Missense_Mutation_p.V27I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	27					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAGATGGATACGACTGCCATG	0.483													C|||	1	0.000199681	0	0.0014	5008	,	,		-128	0		0	False		,,,				2504	0					uc001qtg.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(79-81)Gta>Ata		Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.		C	ILE/VAL,	2,4404	4.2+/-10.8	0,2,2201	163	125	138		79,	-4.6	0	12		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CLEC4C	NM_130441.2,NM_203503.1	29,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,	27/214,	7898972	3,13003	2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7898972C>T	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.79G>A	12.37:g.7898972C>T	ENSP00000440428:p.Val27Ile					CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	p.V27I	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	1	253	-			27					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.79G>A	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.015415	0.00422	4.54E-4	1.16E-4	ENSG00000198178	ENST00000542353;ENST00000360345;ENST00000543765	T;T;T	0.16743	4.48;4.48;2.32	2.28	-4.56	0.03431	.	.	.	.	.	T	0.03871	0.0109	N	0.01874	-0.695	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.33752	-0.9856	9	0.02654	T	1	.	5.1277	0.14894	0.174:0.6246:0.0:0.2013	.	27	Q8WTT0	CLC4C_HUMAN	I	27;27;24	ENSP00000440428:V27I;ENSP00000353500:V27I;ENSP00000442457:V24I	ENSP00000353500:V27I	V	-	1	0	CLEC4C	7790239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.283000	0.00527	-1.491000	0.01840	-0.507000	0.04495	GTA		0.483	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		T	7898972	C	T	7898972	3	4	257	1	0	0	0	0	1	0	0	0	3513	536	19	1	582	1	CLEC4C	12	7898972	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	7651398	7898972	125952923	56	18357											
C12orf51	283450	broad.mit.edu	37	chr12	112605619	112605619	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcccggcctctgcctaccTtgttcttattgacagctgag	5	13	8	15	1	2	2	0	2	2	0	3	2	3	2	5	1	3	2	5	1	2	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:112605619T>A	ENST00000430131.2	-	70	12190	c.11045A>T	c.(11044-11046)aAg>aTg	p.K3682M	HECTD4_ENST00000550722.1_Splice_Site_p.K3958M|HECTD4_ENST00000377560.5_Splice_Site_p.K3932M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3682	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCTGCCTACCTTGTTCTTATT	0.617																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.e71+1		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							41	50	47					12																	112605619		2050	4192	6242	SO:0001630	splice_region_variant	283450							g.chr12:112605619T>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11046+1A>T	12.37:g.112605619T>A							p.K3970_splice	NM_001109662	NP_001103132					71	12306	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.11910_splice		.	.	.	.	.	.	.	.	.	.	T	28.2	4.902016	0.92035	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.58652	0.32;0.32;0.32	5.46	5.46	0.80206	HECT (4);	.	.	.	.	T	0.71400	0.3335	L	0.49350	1.555	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.74420	-0.3671	9	0.87932	D	0	.	15.5183	0.75842	0.0:0.0:0.0:1.0	.	3682	Q9Y4D8	K0614_HUMAN	M	3932;3682;3958;147	ENSP00000366783:K3932M;ENSP00000404379:K3682M;ENSP00000449784:K3958M	ENSP00000366783:K3932M	K	-	2	0	C12orf51	111090002	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.509000	0.81698	2.090000	0.63153	0.402000	0.26972	AAG		0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Missense_Mutation	A	112605619	T	A	112605619	5	1	257	1	0	0	0	0	0	0	1	0	1696	1623	56	5	969	5	C12orf51	12	112605619	Splice_Site	SNP	T	TCGA-76-4925-01A-01D-1486-08	104706647	112605619	21246276	57	18358											
POLE2	5427	broad.mit.edu	37	chr14	50120778	50120778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtgatgctttcagcaaGtggtggcctataaaaacaat	14	12	9	6	0	1	1	1	1	0	0	1	1	1	1	1	2	3	2	1	2	7	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr14:50120778G>A	ENST00000216367.5	-	15	1240	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	POLE2_ENST00000539565.2_Missense_Mutation_p.L355F|POLE2_ENST00000554396.1_Missense_Mutation_p.L381F|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	381					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTTTCAGCAAGTGGTGGCCTA	0.294																																						uc001wwu.3																			0		p.P380S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1141-1143)Ctt>Ttt		Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.							70	72	71					14																	50120778		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50120778G>A	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1141C>T	14.37:g.50120778G>A	ENSP00000216367:p.Leu381Phe					NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Missense_Mutation_p.L95F|POLE2_uc021rsr.1_Missense_Mutation_p.L355F|POLE2_uc010ano.3_Missense_Mutation_p.L381F	p.L381F	NM_002692	NP_002683	P56282	DPOE2_HUMAN			14	1318	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		381					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1141C>T	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057862	0.36277	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.29917	1.55;1.55;1.55	6.16	3.33	0.38152	DNA polymerase alpha/epsilon, subunit B (1);	0.175363	0.51477	N	0.000084	T	0.42966	0.1226	M	0.79926	2.475	0.53688	D	0.999978	B;B;B	0.23249	0.082;0.023;0.013	B;B;B	0.41646	0.362;0.084;0.031	T	0.36187	-0.9758	10	0.59425	D	0.04	-20.5213	6.0687	0.19877	0.1394:0.0:0.5928:0.2678	.	381;355;381	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	F	381;355;381	ENSP00000216367:L381F;ENSP00000446313:L355F;ENSP00000451621:L381F	ENSP00000216367:L381F	L	-	1	0	POLE2	49190528	0.998000	0.40836	0.994000	0.49952	0.826000	0.46750	2.846000	0.48262	0.452000	0.26830	0.650000	0.86243	CTT		0.294	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		A	50120778	G	A	50120778	3	1	257	1	0	0	0	0	1	0	0	0	12197	1029	36	3	462	3	POLE2	14	50120778	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		50120778	57228762	58	18359											
MYO9A	4649	broad.mit.edu	37	chr15	72195395	72195395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtacatggaagtggcTcacaaaatcctgaaaaataa	20	7	8	6	0	1	2	1	1	0	1	2	3	2	3	1	2	1	2	1	2	9	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:72195395T>C	ENST00000356056.5	-	22	3359	c.2887A>G	c.(2887-2889)Agc>Ggc	p.S963G	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S944G|MYO9A_ENST00000424560.1_Missense_Mutation_p.S963G|MYO9A_ENST00000564571.1_Missense_Mutation_p.S963G|MYO9A_ENST00000566885.1_Missense_Mutation_p.S583G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	963	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAAGTGGCTCACAAAATCC	0.269																																						uc002atl.4																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2887-2889)Agc>Ggc		Homo sapiens myosin IXA (MYO9A), mRNA.							38	44	42					15																	72195395		2191	4275	6466	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72195395T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2887A>G	15.37:g.72195395T>C	ENSP00000348349:p.Ser963Gly					MYO9A_uc010biq.3_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	p.S963G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			21	3360	-			963			Myosin head-like 2.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2887A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388132	0.61956	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.88046	-2.33;-2.33;-2.33	5.8	4.67	0.58626	Myosin head, motor domain (2);	.	.	.	.	T	0.80226	0.4584	L	0.33753	1.03	0.25465	N	0.987886	B;B;B	0.31274	0.317;0.003;0.131	B;B;B	0.32393	0.069;0.007;0.145	T	0.70521	-0.4849	9	0.39692	T	0.17	.	8.7001	0.34320	0.0:0.1515:0.0:0.8485	.	944;944;963	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	G	963;963;944;944	ENSP00000348349:S963G;ENSP00000399162:S963G;ENSP00000398250:S944G	ENSP00000261864:S944G	S	-	1	0	MYO9A	69982449	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	3.163000	0.50763	2.213000	0.71641	0.533000	0.62120	AGC		0.269	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72195395	T	C	72195395	3	2	257	1	0	0	0	0	1	0	0	0	10084	1551	54	4	4843	4	MYO9A	15	72195395	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08		72195395	30335997	59	18360											
IL16	3603	broad.mit.edu	37	chr15	81598457	81598457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacctcaactcctccaCtgactctgcagcctcagcct	7	8	6	20	1	3	1	2	1	1	0	5	2	5	1	6	0	4	1	6	0	1	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:81598457C>G	ENST00000302987.4	+	16	3629	c.3629C>G	c.(3628-3630)aCt>aGt	p.T1210S	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.T1210S|IL16_ENST00000394652.2_Missense_Mutation_p.T509S			Q14005	IL16_HUMAN	interleukin 16	1210					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AACTCCTCCACTGACTCTGCA	0.562																																						uc021ssh.1																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3628-3630)aCt>aGt		Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.							79	84	83					15																	81598457		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598457C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3629C>G	15.37:g.81598457C>G	ENSP00000302935:p.Thr1210Ser					IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.T1252S|IL16_uc002bgg.3_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.3_Missense_Mutation_p.T704S|IL16_uc021ssi.1_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	p.T1210S	NM_172217	NP_757366	Q14005	IL16_HUMAN			15	3730	+			1210					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3629C>G	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.458|3.458	-0.110660|-0.110660	0.06924|0.06924	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000329842|ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	.|T;T;T	.|0.38077	.|2.67;1.16;1.16	5.03|5.03	-1.03|-1.03	0.10102|0.10102	.|PDZ/DHR/GLGF (1);	.|0.690015	.|0.12798	.|N	.|0.438265	T|T	0.23492|0.23492	0.0568|0.0568	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.21071	.|0.001;0.0;0.051;0.0;0.0	.|B;B;B;B;B	.|0.14023	.|0.004;0.002;0.01;0.001;0.002	T|T	0.23797|0.23797	-1.0178|-1.0178	6|10	0.87932|0.18276	D|T	0|0.48	.|.	1.3722|1.3722	0.02213|0.02213	0.1454:0.3284:0.289:0.2372|0.1454:0.3284:0.289:0.2372	.|.	.|1042;703;600;1210;1210	.|F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2	.|.;.;.;IL16_HUMAN;.	Q|S	720|1210;1042;1210;600;509;509	.|ENSP00000378155:T1210S;ENSP00000302935:T1210S;ENSP00000378147:T509S	ENSP00000329317:H720Q|ENSP00000302935:T1210S	H|T	+|+	3|2	2|0	IL16|IL16	79385512|79385512	0.001000|0.001000	0.12720|0.12720	0.026000|0.026000	0.17262|0.17262	0.001000|0.001000	0.01503|0.01503	0.445000|0.445000	0.21677|0.21677	-0.080000|-0.080000	0.12685|0.12685	-1.080000|-1.080000	0.02220|0.02220	CAC|ACT		0.562	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		G	81598457	C	G	81598457	3	3	257	1	0	0	0	0	1	0	0	0	7633	565	20	5	3691	5	IL16	15	81598457	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	9403062	81598457	20932935	60	18361											
HS3ST6	64711	broad.mit.edu	37	chr16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaagtcctgcacgCggccgacctctccggccggg	5	4	15	17	5	1	0	0	0	1	0	3	2	2	1	6	5	1	1	6	5	1	0	rs375310728		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:1961835C>T	ENST00000293937.3	-	2	784	c.785G>A	c.(784-786)cGc>cAc	p.R262H	HS3ST6_ENST00000454677.2_Missense_Mutation_p.R279H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R231H			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	262					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R231H(2)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667																																						uc002cnf.3																			2	Substitution - Missense(2)	p.R231H(3)	endometrium(2)	endometrium(2)|lung(2)	4						c.(691-693)cGc>cAc		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.							63	74	70					16																	1961835		2196	4300	6496	SO:0001583	missense	64711							g.chr16:1961835C>T			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.785G>A	16.37:g.1961835C>T	ENSP00000293937:p.Arg262His					TCRBV20S1_uc021tak.1_Intron	p.R231H	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			1	692	-			231					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.692G>A		.	.	.	.	.	.	.	.	.	.	C	17.95	3.514826	0.64634	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.58358	0.34;0.34	4.58	3.61	0.41365	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.78909	-0.2018	10	0.72032	D	0.01	.	12.0749	0.53638	0.0:0.9145:0.0:0.0855	.	262	Q96QI5	HS3S6_HUMAN	H	262;231;301	ENSP00000293937:R262H;ENSP00000390354:R231H	ENSP00000293937:R262H	R	-	2	0	HS3ST6	1901836	0.993000	0.37304	0.981000	0.43875	0.315000	0.28087	3.104000	0.50306	0.912000	0.36772	0.505000	0.49811	CGC		0.667	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		T	1961835	C	T	1961835	3	4	257	1	0	0	0	0	1	0	0	0	7369	768	27	1	247	1	HS3ST6	16	1961835	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		1961835	88392918	61	18362											
CLUAP1	23059	broad.mit.edu	37	chr16	3554767	3554767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataccctcgacatatttctAtggaaaatttccgtacaccc	12	12	5	12	2	1	0	0	0	1	0	3	3	2	1	3	1	2	1	3	1	6	6			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3554767A>G	ENST00000576634.1	+	2	214	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	CLUAP1_ENST00000341633.5_Missense_Mutation_p.M24V|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.M24V|CLUAP1_ENST00000417763.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	24					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ACATATTTCTATGGAAAATTT	0.408																																						uc002cvk.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.(70-72)Atg>Gtg		Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.							119	118	118					16																	3554767		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3554767A>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.70A>G	16.37:g.3554767A>G	ENSP00000460850:p.Met24Val					CLUAP1_uc002cvj.1_Missense_Mutation_p.M24V	p.M24V	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN			1	175	+			24					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.70A>G	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135461	0.56828	.	.	ENSG00000103351	ENST00000341633	T	0.50277	0.75	5.34	5.34	0.76211	.	0.036284	0.85682	D	0.000000	T	0.44829	0.1312	L	0.49350	1.555	0.80722	D	1	P	0.37207	0.587	B	0.38225	0.268	T	0.44847	-0.9301	10	0.48119	T	0.1	-26.4514	13.2742	0.60178	1.0:0.0:0.0:0.0	.	24	Q96AJ1	CLUA1_HUMAN	V	24	ENSP00000344392:M24V	ENSP00000344392:M24V	M	+	1	0	CLUAP1	3494768	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.749000	0.68704	2.017000	0.59298	0.533000	0.62120	ATG		0.408	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		G	3554767	A	G	3554767	3	3	257	1	0	0	0	0	1	0	0	0	3569	449	16	4	76	4	CLUAP1	16	3554767	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	1592932	3554767	86799986	62	18363											
PLCG2	5336	broad.mit.edu	37	chr16	81891938	81891938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaagcgatgaatgcGtccacgcccaccattatcga	12	6	9	14	4	0	1	0	1	0	0	2	4	1	2	4	1	2	0	4	1	3	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:81891938G>A	ENST00000359376.3	+	4	622	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	136					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(406-408)gcG>gcA		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							134	134	134					16																	81891938		2036	4204	6240	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81891938G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.408G>A	16.37:g.81891938G>A						PLCG2_uc010chg.1_Silent_p.A136A	p.A136A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			3	586	+			136					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.408G>A	CCDS42204.1																																																																																				0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			A	81891938	G	A	81891938	2	1	257	1	0	0	0	0	0	0	0	1	12036	1132	40	1		1	PLCG2	16	81891938	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	78337171	81891938	8462815	63	18364											
TP53	7157	broad.mit.edu	37	chr17	7577535	7577535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggtgaggatgggcCtccggttcatgccgcccatg	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs587782329		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:7577535C>G	ENST00000269305.4	-	7	935	c.746G>C	c.(745-747)aGg>aCg	p.R249T	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R249T|TP53_ENST00000413465.2_Missense_Mutation_p.R249T|TP53_ENST00000420246.2_Missense_Mutation_p.R249T|TP53_ENST00000455263.2_Missense_Mutation_p.R249T|TP53_ENST00000359597.4_Missense_Mutation_p.R249T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGATGGGCCTCCGGTTCAT	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		100	Substitution - Missense(74)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	p.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(1)	lung(22)|upper_aerodigestive_tract(12)|breast(8)|large_intestine(7)|liver(7)|stomach(6)|haematopoietic_and_lymphoid_tissue(5)|biliary_tract(5)|oesophagus(5)|skin(4)|bone(4)|central_nervous_system(3)|ovary(3)|adrenal_gland(2)|urinary_tract(2)|pancreas(2)|peritoneum(1)|soft_tissue(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(745-747)aGg>aCg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							154	113	127					17																	7577535		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577535C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.746G>C	17.37:g.7577535C>G	ENSP00000269305:p.Arg249Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.3_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R249T	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.746G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045352	0.75846	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	M	0.85462	2.755	0.50813	D	0.999891	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;1.0	D;D;D;D;D	0.81914	0.968;0.995;0.986;0.955;0.992	D	0.96726	0.9536	10	0.87932	D	0	-3.0658	12.8645	0.57932	0.0:0.8349:0.1651:0.0	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	249;249;249;249;249;249;238;117	ENSP00000410739:R249T;ENSP00000352610:R249T;ENSP00000269305:R249T;ENSP00000398846:R249T;ENSP00000391127:R249T;ENSP00000391478:R249T;ENSP00000425104:R117T	ENSP00000269305:R249T	R	-	2	0	TP53	7518260	0.835000	0.29415	0.998000	0.56505	0.801000	0.45260	7.609000	0.82925	1.295000	0.44724	0.462000	0.41574	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577535	C	G	7577535	3	3	257	1	0	0	0	0	1	0	0	0	16378	681	24	5	544	5	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		7577535	73617675	64	18365											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e4+1		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	p.S147_splice	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	484	-	Breast(5;2.15e-14)		147			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	-	62500102	ACAG	-	62500099	8	5	257	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-76-4925-01A-01D-1486-08	54922564	62500099	18695111	65	18366											
GATA6	2627	broad.mit.edu	37	chr18	19762767	19762767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaattcaaaccaggaaacGaaaacctaagaacataaata	22	5	7	7	1	1	1	1	0	0	1	1	4	1	3	2	2	4	0	2	2	10	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr18:19762767G>A	ENST00000269216.3	+	5	1755	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	GATA6_ENST00000581694.1_Missense_Mutation_p.R493Q|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	493					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACCAGGAAACGAAAACCTAAG	0.313																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1477-1479)cGa>cAa		Homo sapiens GATA binding protein 6 (GATA6), mRNA.							53	55	55					18																	19762767		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762767G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1478G>A	18.37:g.19762767G>A	ENSP00000269216:p.Arg493Gln					GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	p.R493Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		4	1743	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		493					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1478G>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401407	0.96030	.	.	ENSG00000141448	ENST00000269216	D	0.99698	-6.44	5.97	5.97	0.96955	Zinc finger, NHR/GATA-type (1);	0.057841	0.64402	D	0.000002	D	0.99764	0.9904	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97767	1.0224	10	0.87932	D	0	-6.8388	20.4251	0.99070	0.0:0.0:1.0:0.0	.	493	Q92908	GATA6_HUMAN	Q	493	ENSP00000269216:R493Q	ENSP00000269216:R493Q	R	+	2	0	GATA6	18016765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.829000	0.97493	0.650000	0.86243	CGA		0.313	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		A	19762767	G	A	19762767	3	1	257	1	0	0	0	0	1	0	0	0	6258	1058	37	2	1492	2	GATA6	18	19762767	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19762767	58314481	66	18367											
CREB3L3	84699	broad.mit.edu	37	chr19	4168400	4168400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaatccggaacaagcagtCggcgcaagaaagcaggaaga	18	2	13	8	3	0	2	0	0	0	2	2	5	1	4	1	3	3	3	1	3	7	0	rs147422200		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:4168400C>T	ENST00000078445.2	+	6	914	c.767C>T	c.(766-768)tCg>tTg	p.S256L	CREB3L3_ENST00000602257.1_Missense_Mutation_p.S254L|CREB3L3_ENST00000252587.3_Missense_Mutation_p.S196L|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S255L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	256	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCAGTCGGCGCAAGAA	0.532													C|||	1	0.000199681	0	0	5008	,	,		17015	0		0.001	False		,,,				2504	0					uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(766-768)tCg>tTg		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.							75	62	66					19																	4168400		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4168400C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.767C>T	19.37:g.4168400C>T	ENSP00000078445:p.Ser256Leu					CREB3L3_uc002lzm.3_Missense_Mutation_p.S246L|CREB3L3_uc010xib.2_Missense_Mutation_p.S245L|CREB3L3_uc010xic.2_Intron	p.S256L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	5	883	+			256					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.767C>T	CCDS12121.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.2	4.381349	0.82792	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.62364	0.03;0.03	5.06	5.06	0.68205	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92004	0.5613	10	0.87932	D	0	-23.6835	17.3508	0.87323	0.0:1.0:0.0:0.0	.	254;255;256	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	L	256;256;196	ENSP00000078445:S256L;ENSP00000252587:S196L	ENSP00000078445:S256L	S	+	2	0	CREB3L3	4119400	1.000000	0.71417	0.953000	0.39169	0.366000	0.29705	7.412000	0.80091	2.507000	0.84556	0.655000	0.94253	TCG		0.532	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		T	4168400	C	T	4168400	3	4	257	1	0	0	0	0	1	0	0	0	3858	893	31	2	789	2	CREB3L3	19	4168400	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		4168400	54960583	67	18368											
RAVER1	125950	broad.mit.edu	37	chr19	10434119	10434119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggcgcagaaggagaCtcgcaggtggctgcccccca	8	3	15	15	2	0	2	0	0	0	2	1	3	0	2	4	5	1	3	4	5	1	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:10434119C>T	ENST00000293677.6	-	4	1012	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	294	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAAGGAGACTCGCAGGTGG	0.716																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(931-933)Gtc>Atc		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							14	19	17					19																	10434119		2057	4198	6255	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434119C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.931G>A	19.37:g.10434119C>T	ENSP00000293677:p.Val311Ile						p.V311I	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	1011	-			294			Interaction with PTBP1 (By similarity).		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.931G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312408	0.60414	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.09255	3.0	4.52	3.48	0.39840	.	0.264594	0.29480	N	0.012035	T	0.20333	0.0489	M	0.80616	2.505	0.38299	D	0.942917	B	0.28419	0.211	B	0.38296	0.27	T	0.04796	-1.0926	10	0.72032	D	0.01	-18.6999	10.29	0.43590	0.0:0.9004:0.0:0.0996	.	311	E9PAU2	.	I	311;294	ENSP00000293677:V311I	ENSP00000293677:V311I	V	-	1	0	RAVER1	10295119	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	5.632000	0.67819	0.897000	0.36392	0.407000	0.27541	GTC		0.716	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		T	10434119	C	T	10434119	3	4	257	1	0	0	0	0	1	0	0	0	13094	565	20	3	1379	3	RAVER1	19	10434119	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	6265719	10434119	48694864	68	18369											
GATAD2A	54815	broad.mit.edu	37	chr19	19576172	19576172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgaccgaagaagcatgCcgaacacggagtcagaaacg	17	3	12	9	4	1	4	1	1	0	3	1	7	1	5	2	1	4	1	2	1	5	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:19576172C>T	ENST00000360315.3	+	2	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_ENST00000429563.2_5'Flank|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000404158.1_Silent_p.C6C	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	6					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473																																						uc010xqt.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(16-18)tgC>tgT		Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.							111	106	108					19																	19576172		1568	3582	5150	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19576172C>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.18C>T	19.37:g.19576172C>T						GATAD2A_uc010xqu.2_5'UTR|GATAD2A_uc010xqv.2_Silent_p.C25C|GATAD2A_uc010xqw.2_5'UTR	p.C6C	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			1	330	+			6					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.18C>T	CCDS12402.2																																																																																				0.473	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		T	19576172	C	T	19576172	2	4	257	1	0	0	0	0	0	0	0	1	6260	747	26	3		3	GATAD2A	19	19576172	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9142053	19576172	39552811	69	18370											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908646	39908646	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcggagggggtggcccCcggctacgagggggtgagcg	5	3	24	9	4	0	1	0	1	0	0	0	4	0	3	2	9	2	1	2	9	1	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:39908646C>G	ENST00000409794.3	+	9	1834	c.984C>G	c.(982-984)ccC>ccG	p.P328P	PLEKHG2_ENST00000458508.2_Silent_p.P269P|PLEKHG2_ENST00000409797.2_Silent_p.P328P|PLEKHG2_ENST00000425673.1_Silent_p.P328P|PLEKHG2_ENST00000378550.1_Silent_p.P328P	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGTGGCCCCCGGCTACGAG	0.662																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(982-984)ccC>ccG		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							16	18	17					19																	39908646		2200	4299	6499	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908646C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.984C>G	19.37:g.39908646C>G						PLEKHG2_uc010xuy.2_Silent_p.P269P|PLEKHG2_uc002olj.3_Silent_p.P328P|PLEKHG2_uc010xva.2_Silent_p.P135P	p.P328P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		8	1309	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		328			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.984C>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	c	10.27	1.304018	0.23736	.	.	ENSG00000090924	ENST00000205135	T	0.68479	-0.33	4.65	3.6	0.41247	.	0.170647	0.40144	N	0.001167	T	0.73194	0.3556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74426	-0.3669	7	0.49607	T	0.09	.	11.9028	0.52692	0.1742:0.8258:0.0:0.0	.	.	.	.	R	225	ENSP00000205135:P225R	ENSP00000205135:P225R	P	+	2	0	PLEKHG2	44600486	0.413000	0.25400	1.000000	0.80357	0.941000	0.58515	-0.168000	0.09925	1.314000	0.45095	0.556000	0.70494	CCC		0.662	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		G	39908646	C	G	39908646	2	3	257	1	0	0	0	0	0	0	0	1	12069	610	22	5		5	PLEKHG2	19	39908646	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	20332474	39908646	19220337	70	18371											
KLK5	25818	broad.mit.edu	37	chr19	51453308	51453308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcccaggtcctggttGctcccagagggcacggtgtt	5	9	13	14	1	0	1	0	0	0	1	3	1	3	1	4	4	2	5	4	4	0	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:51453308G>A	ENST00000336334.3	-	3	490	c.138C>T	c.(136-138)agC>agT	p.S46S	KLK5_ENST00000593428.1_Silent_p.S46S|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.S46S	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	46				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTCCTGGTTGCTCCCAGAGG	0.612																																						uc002pue.3																			0		p.S46C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(136-138)agC>agT		Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.							43	40	41					19																	51453308		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453308G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.138C>T	19.37:g.51453308G>A						KLK5_uc002puf.3_Silent_p.S46S|KLK5_uc002pug.3_Silent_p.S46S	p.S46S	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	356	-		all_neural(266;0.026)	46	Missing (in Ref. 3; AAG33358).				Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.138C>T	CCDS12810.1																																																																																				0.612	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		A	51453308	G	A	51453308	2	1	257	1	0	0	0	0	0	0	0	1	8407	1310	46	3		3	KLK5	19	51453308	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	11544662	51453308	7675675	71	18372											
GFRA4	64096	broad.mit.edu	37	chr20	3641311	3641311	+	Frame_Shift_Del	DEL	C	C	-																															aggggtgacggcggtgcctgCggggaccctgagggcgaagt																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:3641311delC	ENST00000319242.3	-	3	588	c.589delG	c.(589-591)gcafs	p.A197fs	GFRA4_ENST00000290417.2_Intron			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	197					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						GCGGTGCCTGCGGGGACCCTG	0.731																																						uc002wio.3																			0				large_intestine(1)|lung(2)	3						c.(589-591)gcafs		Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.							5	7	6					20																	3641311		2070	4026	6096	SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641311delC	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.589delG	20.37:g.3641311delC	ENSP00000313423:p.Ala197fs					GFRA4_uc002win.3_Intron|GFRA4_uc002wip.1_Frame_Shift_Del_p.P170fs	p.A197fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			2	589	-			197					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.589delG	CCDS13056.1																																																																																				0.731	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		-	3641311	C	-	3641311	7	5	257	1	0	1	0	1	0	0	0	0	6350	768	27	0	322	0	GFRA4	20	3641311	Frame_Shift_Del	DEL	C	TCGA-76-4925-01A-01D-1486-08		3641311	59384209	72	18373											
PROKR2	128674	broad.mit.edu	37	chr20	5283350	5283350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtttgataattcatcCgtggtttcaaggggtgaacg	9	12	13	7	3	2	2	2	2	0	0	3	2	3	2	2	4	1	2	2	4	3	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:5283350C>T	ENST00000217270.3	-	2	490	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PROKR2_ENST00000546004.1_Missense_Mutation_p.R164Q	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	164			R -> Q (in HH3; phenotype consistent with Kallmann syndrome). {ECO:0000269|PubMed:17054399}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATAATTCATCCGTGGTTTCAA	0.493										HNSCC(71;0.22)																												uc010zqw.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53	GRCh37	CM065402	PROKR2	M		c.(490-492)cGg>cAg		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.							104	112	109					20																	5283350		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283350C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.491G>A	20.37:g.5283350C>T	ENSP00000217270:p.Arg164Gln	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.2_Missense_Mutation_p.R164Q	p.R164Q	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	499	-			164		R -> Q (in KAL3).			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.491G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642942	0.67244	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39229	1.09;1.09	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.63169	1.94	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.65553	-0.6140	10	0.72032	D	0.01	.	15.9344	0.79691	0.0:1.0:0.0:0.0	.	164	Q8NFJ6	PKR2_HUMAN	Q	164	ENSP00000440790:R164Q;ENSP00000217270:R164Q	ENSP00000217270:R164Q	R	-	2	0	PROKR2	5231350	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.346000	0.79347	2.354000	0.79902	0.655000	0.94253	CGG		0.493	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5283350	C	T	5283350	3	4	257	1	0	0	0	0	1	0	0	0	12553	652	23	2	666	2	PROKR2	20	5283350	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	1642039	5283350	57742170	73	18374											
TFAP2C	7022	broad.mit.edu	37	chr20	55206728	55206728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctccacgacatgcctcaCcagatggacgaggtgcaggt	9	6	14	12	2	1	1	1	0	0	1	2	4	2	2	3	4	2	2	3	4	0	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:55206728C>A	ENST00000201031.2	+	2	759	c.516C>A	c.(514-516)caC>caA	p.H172Q	TFAP2C_ENST00000544508.1_Missense_Mutation_p.H3Q	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	172					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACATGCCTCACCAGATGGACG	0.711																																						uc002xya.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(514-516)caC>caA		Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.							17	17	17					20																	55206728		2201	4299	6500	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206728C>A		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.516C>A	20.37:g.55206728C>A	ENSP00000201031:p.His172Gln					TFAP2C_uc010zzi.2_Missense_Mutation_p.H3Q	p.H172Q	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		1	759	+			172					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.516C>A	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023643	0.35701	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	T;D	0.97161	-1.32;-4.27	5.69	2.22	0.28083	.	0.550000	0.21086	N	0.080408	D	0.93716	0.7992	L	0.58510	1.815	0.50171	D	0.999853	B	0.02656	0.0	B	0.06405	0.002	D	0.87929	0.2709	10	0.27082	T	0.32	-21.9697	5.3873	0.16224	0.2651:0.5166:0.0:0.2183	.	172	Q92754	AP2C_HUMAN	Q	172;3	ENSP00000201031:H172Q;ENSP00000442274:H3Q	ENSP00000201031:H172Q	H	+	3	2	TFAP2C	54640135	0.002000	0.14202	0.992000	0.48379	0.705000	0.40729	-0.451000	0.06795	0.741000	0.32674	0.491000	0.48974	CAC		0.711	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		A	55206728	C	A	55206728	3	1	257	1	0	0	0	0	1	0	0	0	15786	506	18	5	522	5	TFAP2C	20	55206728	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	49923378	55206728	7818792	74	18375											
TMPRSS15	5651	broad.mit.edu	37	chr21	19698772	19698772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatccccaagtgatagccaGtagtaaagtttgctttaaac	14	11	8	8	0	0	1	0	1	0	0	1	2	1	1	3	0	3	4	3	0	8	6			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr21:19698772G>T	ENST00000284885.3	-	16	1931	c.1898C>A	c.(1897-1899)aCt>aAt	p.T633N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	633	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTGATAGCCAGTAGTAAAGTT	0.438																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1897-1899)aCt>aAt		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							218	188	198					21																	19698772		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19698772G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1898C>A	21.37:g.19698772G>T	ENSP00000284885:p.Thr633Asn						p.T633N	NM_002772	NP_002763	P98073	ENTK_HUMAN			15	1929	-			633			CUB 2.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1898C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645320	0.67358	.	.	ENSG00000154646	ENST00000284885	T	0.21361	2.01	5.27	4.33	0.51752	CUB (4);	0.216900	0.40385	N	0.001106	T	0.31575	0.0801	M	0.83384	2.64	0.31223	N	0.69725	D	0.56287	0.975	P	0.44394	0.448	T	0.50516	-0.8819	9	.	.	.	.	13.3819	0.60773	0.0:0.1593:0.8406:0.0	.	633	P98073	ENTK_HUMAN	N	633	ENSP00000284885:T633N	.	T	-	2	0	TMPRSS15	18620643	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	4.043000	0.57354	2.612000	0.88384	0.650000	0.86243	ACT		0.438	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19698772	G	T	19698772	3	4	257	1	0	0	0	0	1	0	0	0	16243	1029	36	5	1201	5	TMPRSS15	21	19698772	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19698772	28431123	75	18376											
BHLHB9	80823	broad.mit.edu	37	chrX	102004405	102004405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggggccgattgcaaacCtaggtcaggggctgaggagg	8	6	19	8	1	1	1	1	1	0	0	1	3	1	2	2	8	2	3	2	8	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:102004405C>T	ENST00000372735.1	+	4	1067	c.482C>T	c.(481-483)cCt>cTt	p.P161L	BHLHB9_ENST00000361229.4_Missense_Mutation_p.P161L|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P161L|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P161L|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P161L			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	161					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATTGCAAACCTAGGTCAGGG	0.493																																						uc022cbi.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(481-483)cCt>cTt		Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.							86	91	89					X																	102004405		2203	4299	6502	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004405C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.482C>T	X.37:g.102004405C>T	ENSP00000361820:p.Pro161Leu					BHLHB9_uc010nog.3_Missense_Mutation_p.P161L|BHLHB9_uc011mrq.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrr.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrs.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrt.2_Missense_Mutation_p.P161L|BHLHB9_uc004ejo.3_Missense_Mutation_p.P161L|BHLHB9_uc011mru.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrv.2_Missense_Mutation_p.P161L	p.P161L	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN			0	482	+			161					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.482C>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.440	-0.898842	0.02472	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.38	0.583	0.17417	.	1.309410	0.05672	N	0.588859	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	9	.	.	.	-6.9341	0.9745	0.01423	0.1864:0.4227:0.1779:0.213	.	161	Q6PI77	BHLH9_HUMAN	L	161	ENSP00000403226:P161L;ENSP00000354675:P161L;ENSP00000405893:P161L;ENSP00000391722:P161L;ENSP00000361820:P161L	.	P	+	2	0	BHLHB9	101891061	0.006000	0.16342	0.000000	0.03702	0.005000	0.04900	0.654000	0.24918	-0.020000	0.14032	-0.302000	0.09304	CCT		0.493	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		T	102004405	C	T	102004405	3	4	257	1	0	0	0	0	1	0	0	0	1420	681	24	3	484	3	BHLHB9	23	102004405	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		102004405	53266155	76	18377											
FAM127C	441518	broad.mit.edu	37	chrX	134156181	134156181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcctcccatccaaagacCcgcttcatctcagccaggaa	10	8	5	18	1	2	1	2	0	1	1	7	2	6	2	6	1	1	1	6	1	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:134156181C>T	ENST00000391440.1	-	1	378	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	103										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ATCCAAAGACCCGCTTCATCT	0.667																																						uc004eyc.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(307-309)cgG>cgA		Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA.							43	46	45					X																	134156181		2187	4276	6463	SO:0001819	synonymous_variant	441518							g.chrX:134156181C>T	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.309G>A	X.37:g.134156181C>T							p.R103R	NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN			0	386	-	Acute lymphoblastic leukemia(192;0.000127)		103						Silent	SNP	ENST00000391440.1	37	c.309G>A	CCDS43996.1																																																																																				0.667	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		T	134156181	C	T	134156181	2	4	257	1	0	0	0	0	0	0	0	1	5433	610	22	3		3	FAM127C	23	134156181	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	32151776	134156181	21114379	77	18378											
ATAD3B	83858	broad.mit.edu	37	chr1	1412700	1412700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagatgcaggagcagacGctgcagttggagcaacagtc	11	5	15	10	2	0	2	0	0	0	2	1	4	0	4	0	2	5	7	0	2	1	1	rs142559400	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:1412700G>A	ENST00000308647.7	+	2	368	c.252G>A	c.(250-252)acG>acA	p.T84T	ATAD3B_ENST00000378741.3_De_novo_Start_InFrame	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	84						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGCAGACGCTGCAGTTGG	0.632																																						uc001afv.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(250-252)acG>acA		Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.		G		1,4405		0,1,2202	47	45	46		252	-5.8	1	1	dbSNP_134	46	4,8586		0,4,4291	no	coding-synonymous	ATAD3B	NM_031921.4		0,5,6493	AA,AG,GG		0.0466,0.0227,0.0385		84/649	1412700	5,12991	2203	4295	6498	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1412700G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.252G>A	1.37:g.1412700G>A						ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.3_5'Flank	p.T84T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	1	353	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	84					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.252G>A	CCDS30.1																																																																																				0.632	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		A	1412700	G	A	1412700	2	1	258	1	0	0	0	0	0	0	0	1	1074	1074	38	1		1	ATAD3B	1	1412700	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08		1412700	247837921	1	18379											
MMEL1	79258	broad.mit.edu	37	chr1	2524281	2524281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcacgttctgttcGtctgccaggtcccaggagta	6	10	12	13	3	3	0	1	0	2	0	5	1	4	1	2	2	2	5	2	2	1	3	rs537491579	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:2524281G>A	ENST00000378412.3	-	20	2153	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	MMEL1_ENST00000288709.6_Silent_p.D655D|MMEL1_ENST00000502556.1_Silent_p.D507D			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	664						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTCTGTTCGTCTGCCAGGT	0.637													g|||	2	0.000399361	0.0015	0	5008	,	,		12745	0		0	False		,,,				2504	0					uc001ajy.2																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1990-1992)gaC>gaT		Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.							119	90	100					1																	2524281		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524281G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1992C>T	1.37:g.2524281G>A						MMEL1_uc009vlg.1_Non-coding_Transcript	p.D664D	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	19	2206	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	664					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1992C>T	CCDS30569.2																																																																																				0.637	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2524281	G	A	2524281	2	1	258	1	0	0	0	0	0	0	0	1	9646	1136	40	1		1	MMEL1	1	2524281	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	1111581	2524281	246726340	2	18380											
PLEKHM2	23207	broad.mit.edu	37	chr1	16044415	16044415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctgtacctggccctcaAcgagaactccttggagagct	8	9	11	13	1	1	2	1	0	0	2	2	4	2	2	3	3	4	3	3	3	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:16044415A>G	ENST00000375799.3	+	4	532	c.305A>G	c.(304-306)aAc>aGc	p.N102S	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.N102S	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	102	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGCCCTCAACGAGAACTCC	0.572																																						uc010obo.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(304-306)aAc>aGc		Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.							61	64	63					1																	16044415		1959	4154	6113	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16044415A>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.305A>G	1.37:g.16044415A>G	ENSP00000364956:p.Asn102Ser						p.N102S	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	3	532	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	102			Interaction with KIF5B.|RUN.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.305A>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317812	0.60524	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.35421	1.31;1.31	5.17	5.17	0.71159	RUN (3);	0.050604	0.85682	D	0.000000	T	0.39332	0.1074	M	0.67700	2.07	0.58432	D	0.999993	B	0.31879	0.344	B	0.31686	0.134	T	0.30060	-0.9991	10	0.42905	T	0.14	-33.6815	15.3283	0.74186	1.0:0.0:0.0:0.0	.	102	Q8IWE5	PKHM2_HUMAN	S	102	ENSP00000364956:N102S;ENSP00000364950:N102S	ENSP00000364950:N102S	N	+	2	0	PLEKHM2	15917002	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.189000	0.58358	2.085000	0.62840	0.533000	0.62120	AAC		0.572	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		G	16044415	A	G	16044415	3	3	258	1	0	0	0	0	1	0	0	0	12081	43	2	4	319	4	PLEKHM2	1	16044415	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	13520134	16044415	233206206	3	18381											
ZSWIM5	57643	broad.mit.edu	37	chr1	45508897	45508897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctagacttaccaagccAcagtggctggccttgggaat	10	8	13	10	0	0	1	0	0	0	1	0	2	0	2	3	4	2	2	3	4	4	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:45508897A>G	ENST00000359600.5	-	6	1808	c.1603T>C	c.(1603-1605)Tgg>Cgg	p.W535R		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	535						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCAAGCCACAGTGGCTGG	0.488																																						uc001cnd.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1603-1605)Tgg>Cgg		Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.							98	100	100					1																	45508897		1902	4128	6030	SO:0001583	missense	57643						zinc ion binding	g.chr1:45508897A>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1603T>C	1.37:g.45508897A>G	ENSP00000352614:p.Trp535Arg						p.W535R	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			5	1831	-	Acute lymphoblastic leukemia(166;0.155)		535					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.1603T>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363092	0.82353	.	.	ENSG00000162415	ENST00000359600	T	0.60040	0.22	5.24	4.09	0.47781	.	0.107992	0.64402	D	0.000002	T	0.74726	0.3754	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.77879	-0.2423	10	0.87932	D	0	-6.2558	12.7877	0.57516	0.8628:0.1372:0.0:0.0	.	535	Q9P217	ZSWM5_HUMAN	R	535	ENSP00000352614:W535R	ENSP00000352614:W535R	W	-	1	0	ZSWIM5	45281484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	1.051000	0.40369	0.533000	0.62120	TGG		0.488	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		G	45508897	A	G	45508897	3	3	258	1	0	0	0	0	1	0	0	0	18241	159	6	4	1990	4	ZSWIM5	1	45508897	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	29464482	45508897	203741724	4	18382											
VPS45	11311	broad.mit.edu	37	chr1	150049176	150049176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttttaacaaaaagggtcGaaattgggatccagcccagc	13	10	10	8	1	0	0	0	0	0	0	2	2	1	1	2	2	3	1	2	2	4	4	rs370166172		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:150049176G>A	ENST00000369130.3	+	6	989	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	148					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAAGGGTCGAAATTGGGAT	0.353																																						uc001etp.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(442-444)cGa>cAa		Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.		G	GLN/ARG	0,4406		0,0,2203	68	68	68		443	6.1	1	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	VPS45	NM_007259.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	148/571	150049176	1,13005	2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150049176G>A	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.443G>A	1.37:g.150049176G>A	ENSP00000358126:p.Arg148Gln					VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.R112Q|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	p.R148Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1016	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		148					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.443G>A	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596164	0.46318	0.0	1.16E-4	ENSG00000136631	ENST00000369130;ENST00000543996	T	0.28666	1.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	L	0.29908	0.895	0.80722	D	1	B;B	0.30021	0.265;0.147	B;B	0.22753	0.031;0.041	T	0.03384	-1.1042	10	0.27785	T	0.31	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	112;148	B7Z7G7;Q9NRW7	.;VPS45_HUMAN	Q	148;23	ENSP00000358126:R148Q	ENSP00000358126:R148Q	R	+	2	0	VPS45	148315800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.533000	0.98059	2.880000	0.98712	0.650000	0.86243	CGA		0.353	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		A	150049176	G	A	150049176	3	1	258	1	0	0	0	0	1	0	0	0	17208	1058	37	2	465	2	VPS45	1	150049176	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	104540279	150049176	99201445	5	18383											
KPRP	448834	broad.mit.edu	37	chr1	152733551	152733551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcagggagacttggcGcagccccagcccatgctggg	6	5	15	15	1	0	1	0	0	0	1	0	2	0	1	4	3	4	3	4	3	0	1	rs201034376		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:152733551G>A	ENST00000606109.1	+	1	1515	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	KPRP_ENST00000368773.1_Missense_Mutation_p.R496H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	496	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R496H(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACTTGGCGCAGCCCCAGC	0.647																																						uc001fal.1																			1	Substitution - Missense(1)	p.R496H(2)	ovary(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1486-1488)cGc>cAc		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							45	51	49					1																	152733551		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733551G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1487G>A	1.37:g.152733551G>A	ENSP00000475216:p.Arg496His					KPRP_uc021ozf.1_Missense_Mutation_p.R496H	p.R496H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	1545	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		496			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1487G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492517	0.26774	.	.	ENSG00000203786	ENST00000368773	T	0.15017	2.46	4.46	2.55	0.30701	.	0.806480	0.10804	N	0.632297	T	0.03695	0.0105	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.41998	-0.9477	10	0.38643	T	0.18	-3.4942	4.4113	0.11434	0.192:0.0:0.6315:0.1764	.	496	Q5T749	KPRP_HUMAN	H	496	ENSP00000357762:R496H	ENSP00000357762:R496H	R	+	2	0	KPRP	151000175	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	1.343000	0.33930	0.606000	0.29965	-0.379000	0.06801	CGC		0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152733551	G	A	152733551	3	1	258	1	0	0	0	0	1	0	0	0	8436	1087	38	1	1489	1	KPRP	1	152733551	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	2684375	152733551	96517070	6	18384											
KIF26B	55083	broad.mit.edu	37	chr1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagattctggaacaccGccagcagaggatcgccgagg	11	5	14	11	3	1	3	0	1	1	2	2	6	1	5	3	3	2	2	3	3	2	1	rs199933797		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		19181	0		0.001	False		,,,				2504	0					uc001ibf.1																			1	Substitution - Missense(1)	p.R2024H(2)|p.H2023Q(1)	ovary(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(6070-6072)cGc>cAc		Homo sapiens kinesin family member 26B (KIF26B), mRNA.							73	78	76					1																	245862232		2085	4213	6298	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862232G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His						p.R2024H	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		13	6511	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.6071G>A	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245862232	G	A	245862232	3	1	258	1	0	0	0	0	1	0	0	0	8295	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	93128681	245862232	3388389	7	18385											
OR2W3	343171	broad.mit.edu	37	chr1	248059267	248059267	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccggtgtgtggctatcTgcaagcccctgcactacatg	8	10	11	12	1	1	1	0	1	1	0	1	1	1	1	3	2	4	3	3	2	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:248059267T>G	ENST00000360358.3	+	1	379	c.379T>G	c.(379-381)Tgc>Ggc	p.C127G	OR2W3_ENST00000537741.1_Missense_Mutation_p.C127G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGCTATCTGCAAGCCCCT	0.607																																						uc010pzb.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(379-381)Tgc>Ggc		Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.							107	82	91					1																	248059267		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059267T>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.379T>G	1.37:g.248059267T>G	ENSP00000353516:p.Cys127Gly					OR2W3_uc001idp.1_Missense_Mutation_p.C127G	p.C127G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		0	379	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		127					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.379T>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245519	0.22796	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.07114	3.22;3.22	5.28	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.087960	0.50627	N	0.000109	T	0.25680	0.0625	H	0.97587	4.035	0.50632	D	0.999884	B	0.22080	0.064	B	0.27170	0.077	T	0.15492	-1.0435	10	0.72032	D	0.01	.	12.3272	0.55018	0.0:0.0:0.141:0.8589	.	127	Q7Z3T1	OR2W3_HUMAN	G	127	ENSP00000445853:C127G;ENSP00000353516:C127G	ENSP00000353516:C127G	C	+	1	0	OR2W3	246125890	1.000000	0.71417	0.972000	0.41901	0.031000	0.12232	3.504000	0.53347	0.997000	0.38969	0.491000	0.48974	TGC		0.607	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		G	248059267	T	G	248059267	3	3	258	1	0	0	0	0	1	0	0	0	11033	1580	55	5	381	5	OR2W3	1	248059267	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	2197035	248059267	1191354	8	18386											
TPO	7173	broad.mit.edu	37	chr2	1457495	1457495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggggcgcctccaacaCggccctggcacgatggctcc	7	5	13	16	3	0	1	0	0	0	1	2	2	2	1	4	5	1	2	4	5	1	0	rs139312937		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:1457495C>T	ENST00000345913.4	+	6	603	c.512C>T	c.(511-513)aCg>aTg	p.T171M	TPO_ENST00000329066.4_Missense_Mutation_p.T171M|TPO_ENST00000382201.3_Missense_Mutation_p.T171M|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.T171M|TPO_ENST00000382198.1_Missense_Mutation_p.T171M|TPO_ENST00000349624.3_Missense_Mutation_p.T171M|TPO_ENST00000346956.3_Missense_Mutation_p.T171M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	171					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.T171M(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCTCCAACACGGCCCTGGCA	0.587																																						uc002qwr.3																			1	Substitution - Missense(1)	p.T171M(2)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(511-513)aCg>aTg		Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	70	78	75		512,512,512,512,512,512	5.3	1	2	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	171/934,171/934,171/877,171/877,171/890,171/761	1457495	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457495C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.512C>T	2.37:g.1457495C>T	ENSP00000318820:p.Thr171Met					TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.T171M|TPO_uc002qwx.3_Missense_Mutation_p.T171M|TPO_uc002qwu.3_Missense_Mutation_p.T171M|TPO_uc010yio.2_Missense_Mutation_p.T171M|TPO_uc010yip.2_Missense_Mutation_p.T171M	p.T171M	NM_001206744	NP_001193673	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	5	598	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	171					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.512C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676017	0.67928	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T	0.74842	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.88;-0.5;-0.5	5.27	5.27	0.74061	.	0.145775	0.64402	D	0.000010	D	0.85847	0.5792	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.989;0.981	P;D;P;P	0.72982	0.538;0.979;0.538;0.668	D	0.87183	0.2229	10	0.72032	D	0.01	-13.2269	18.8829	0.92364	0.0:1.0:0.0:0.0	.	171;171;171;171	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	M	171;171;171;171;171;171;171;171;100	ENSP00000337263:T171M;ENSP00000318820:T171M;ENSP00000263886:T171M;ENSP00000332044:T171M;ENSP00000329869:T171M;ENSP00000371636:T171M;ENSP00000390994:T171M;ENSP00000371633:T171M;ENSP00000405788:T100M	ENSP00000329869:T171M	T	+	2	0	TPO	1436502	0.963000	0.33076	1.000000	0.80357	0.260000	0.26232	2.135000	0.42112	2.438000	0.82558	0.557000	0.71058	ACG		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1457495	C	T	1457495	3	4	258	1	0	0	0	0	1	0	0	0	16407	536	19	1	530	1	TPO	2	1457495	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		1457495	241741878	9	18387											
TTN	7273	broad.mit.edu	37	chr2	179438088	179438088	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcacgccgttccacaatAtaattgatgatttcacttcc	11	15	4	11	2	2	2	2	2	0	0	4	2	4	2	3	0	0	1	3	0	4	7			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:179438088A>G	ENST00000591111.1	-	276	68072	c.67848T>C	c.(67846-67848)taT>taC	p.Y22616Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y15384Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Y24257Y|TTN_ENST00000342992.6_Silent_p.Y21689Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.Y15317Y|TTN_ENST00000460472.2_Silent_p.Y15192Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22616	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCCACAATATAATTGATGA	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65065-65067)taT>taC		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							73	72	72					2																	179438088		1918	4136	6054	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438088A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67848T>C	2.37:g.179438088A>G						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y15384Y|TTN_uc021vta.1_Silent_p.Y15317Y|TTN_uc021vtb.1_Silent_p.Y15192Y	p.Y21689Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	65292	-			22616			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.65067T>C																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179438088	A	G	179438088	2	3	258	1	0	0	0	0	0	0	0	1	16732	456	16	4		4	TTN	2	179438088	Silent	SNP	A	TCGA-76-4926-01B-01D-1486-08	177980593	179438088	63761285	10	18388											
CELSR3	1951	broad.mit.edu	37	chr3	48694272	48694272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcgggcagcggcagcGcaggccagcgatgggctgga	6	3	20	12	5	0	0	0	0	0	0	1	2	1	1	2	6	3	4	2	6	0	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr3:48694272G>A	ENST00000164024.4	-	2	4538	c.4258C>T	c.(4258-4260)Cgc>Tgc	p.R1420C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1420C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1420	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCGGCAGCGCAGGCCAGCG	0.672																																						uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(4468-4470)Cgc>Tgc		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							30	26	27					3																	48694272		2198	4297	6495	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694272G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4258C>T	3.37:g.48694272G>A	ENSP00000164024:p.Arg1420Cys					CELSR3_uc003cul.3_Missense_Mutation_p.R1420C	p.R1490C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	4468	-			1420			EGF-like 3; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4468C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389596	0.82902	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.91686	-2.89;-2.89	4.9	4.02	0.46733	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95322	0.8482	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.83275	0.996;0.828	D	0.95170	0.8289	9	0.62326	D	0.03	.	11.738	0.51775	0.0:0.1331:0.7287:0.1382	.	1420;1490	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	1420	ENSP00000164024:R1420C;ENSP00000445694:R1420C	ENSP00000164024:R1420C	R	-	1	0	CELSR3	48669276	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.528000	0.73807	1.282000	0.44496	-0.326000	0.08463	CGC		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48694272	G	A	48694272	3	1	258	1	0	0	0	0	1	0	0	0	3223	1087	38	1	5816	1	CELSR3	3	48694272	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		48694272	149328158	11	18389											
LRRC66	339977	broad.mit.edu	37	chr4	52862310	52862310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatcctgctctggggagtgCccccgttggcctcctcactc	5	10	10	16	1	2	0	1	0	1	0	5	1	4	1	5	3	2	2	5	3	1	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:52862310C>A	ENST00000343457.3	-	4	884	c.878G>T	c.(877-879)gGc>gTc	p.G293V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	293						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGGGAGTGCCCCCGTTGGC	0.483																																						uc003gzi.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(877-879)gGc>gTc		Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.							42	39	40					4																	52862310		1832	4089	5921	SO:0001583	missense	339977					integral to membrane		g.chr4:52862310C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.878G>T	4.37:g.52862310C>A	ENSP00000341944:p.Gly293Val						p.G293V	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			3	885	-			293						Missense_Mutation	SNP	ENST00000343457.3	37	c.878G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	8.526	0.869780	0.17322	.	.	ENSG00000188993	ENST00000343457	T	0.25912	1.77	4.41	2.37	0.29283	.	0.330632	0.22050	N	0.065328	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	0.999998	B	0.14012	0.009	B	0.09377	0.004	T	0.27739	-1.0065	10	0.15066	T	0.55	-1.4063	3.0007	0.06012	0.2608:0.5528:0.0:0.1864	.	293	Q68CR7	LRC66_HUMAN	V	293	ENSP00000341944:G293V	ENSP00000341944:G293V	G	-	2	0	LRRC66	52557067	0.524000	0.26282	0.001000	0.08648	0.000000	0.00434	0.781000	0.26774	0.388000	0.25054	-0.282000	0.10007	GGC		0.483	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		A	52862310	C	A	52862310	3	1	258	1	0	0	0	0	1	0	0	0	9018	739	26	5	1768	5	LRRC66	4	52862310	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		52862310	138291966	12	18390											
FRAS1	80144	broad.mit.edu	37	chr4	79421050	79421050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtggattattacccaaaGagccgagtcttgaagttcag	11	11	12	7	1	2	2	1	1	1	1	2	4	2	3	2	2	2	1	2	2	4	4	rs376458338		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:79421050G>A	ENST00000264895.6	+	61	9731	c.9291G>A	c.(9289-9291)aaG>aaA	p.K3097K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3093	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTACCCAAAGAGCCGAGTCT	0.483																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9289-9291)aaG>aaA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		G		0,3838		0,0,1919	124	119	120		9291	3.3	1	4		120	4,8298		0,4,4147	no	coding-synonymous	FRAS1	NM_025074.6		0,4,6066	AA,AG,GG		0.0482,0.0,0.0329		3097/4013	79421050	4,12136	1919	4151	6070	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79421050G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9291G>A	4.37:g.79421050G>A						FRAS1_uc003hlc.1_Silent_p.K99K	p.K3097K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			60	9731	+			3092			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9291G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541815	0.13250	0.0	4.82E-4	ENSG00000138759	ENST00000512123	.	.	.	5.91	3.29	0.37713	.	.	.	.	.	T	0.60907	0.2305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55095	-0.8194	4	.	.	.	.	10.3652	0.44019	0.2291:0.0:0.7709:0.0	.	.	.	.	K	1326	.	.	E	+	1	0	FRAS1	79640074	1.000000	0.71417	0.994000	0.49952	0.661000	0.39034	2.724000	0.47285	0.423000	0.26033	0.655000	0.94253	GAG		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79421050	G	A	79421050	2	1	258	1	0	0	0	0	0	0	0	1	6042	933	33	3		3	FRAS1	4	79421050	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	26558740	79421050	111733226	13	18391											
PRKG2	5593	broad.mit.edu	37	chr4	82126062	82126062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcaaatggtactccCgctcctggatctcagcatcc	7	11	7	16	1	2	0	2	0	1	0	7	1	6	1	4	2	2	4	4	2	2	2	rs199612321		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:82126062C>T	ENST00000395578.1	-	2	256	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PRKG2_ENST00000264399.1_Missense_Mutation_p.R47Q|PRKG2_ENST00000418486.2_Missense_Mutation_p.R47Q			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	47					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ATGGTACTCCCGCTCCTGGAT	0.557																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(139-141)cGg>cAg		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.		C	GLN/ARG	0,4406	2.1+/-5.4	0,0,2203	118	114	116		140	4.9	1	4		116	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRKG2	NM_006259.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	47/763	82126062	1,13005	2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126062C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.140G>A	4.37:g.82126062C>T	ENSP00000378945:p.Arg47Gln					PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	p.R47Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN			0	153	-			47					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.140G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908008	0.33721	0.0	1.16E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.82711	-1.64;-1.64;-1.64	4.87	4.87	0.63330	.	0.207885	0.42420	D	0.000716	T	0.63070	0.2480	N	0.03608	-0.345	0.80722	D	1	B;B	0.19073	0.005;0.033	B;B	0.11329	0.004;0.006	T	0.60177	-0.7314	10	0.25751	T	0.34	-17.1339	11.3238	0.49438	0.0:0.9163:0.0:0.0837	.	47;47	E7EPE6;Q13237	.;KGP2_HUMAN	Q	47	ENSP00000378945:R47Q;ENSP00000264399:R47Q;ENSP00000389038:R47Q	ENSP00000264399:R47Q	R	-	2	0	PRKG2	82345086	0.999000	0.42202	1.000000	0.80357	0.690000	0.40134	2.555000	0.45854	2.547000	0.85894	0.585000	0.79938	CGG		0.557	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		T	82126062	C	T	82126062	3	4	258	1	0	0	0	0	1	0	0	0	12523	652	23	2	2220	2	PRKG2	4	82126062	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	2705012	82126062	109028214	14	18392											
RXFP1	59350	broad.mit.edu	37	chr4	159533468	159533468	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagataatcacctcagtCgaatttccccaccaacattt	13	12	4	12	1	2	2	2	1	0	1	4	3	3	2	4	0	1	0	4	0	4	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:159533468C>T	ENST00000307765.5	+	8	885	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RXFP1_ENST00000470033.1_Nonsense_Mutation_p.R179*|RXFP1_ENST00000448688.2_Nonsense_Mutation_p.R131*|RXFP1_ENST00000343542.5_Nonsense_Mutation_p.R212*|RXFP1_ENST00000460056.2_Nonsense_Mutation_p.R131*	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	212					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCACCTCAGTCGAATTTCCCC	0.294																																						uc003ipz.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(634-636)Cga>Tga		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.							87	78	81					4																	159533468		1794	4065	5859	SO:0001587	stop_gained	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533468C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.634C>T	4.37:g.159533468C>T	ENSP00000303248:p.Arg212*					RXFP1_uc010iqj.2_Nonsense_Mutation_p.R41*|RXFP1_uc010iqk.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cja.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iqo.3_Nonsense_Mutation_p.R212*|RXFP1_uc011cjb.2_Nonsense_Mutation_p.R158*|RXFP1_uc011cjc.2_Nonsense_Mutation_p.R131*|RXFP1_uc011cjd.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iql.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cje.2_Nonsense_Mutation_p.R239*|RXFP1_uc010iqm.3_Nonsense_Mutation_p.R179*|RXFP1_uc011cjf.2_Nonsense_Mutation_p.R82*|RXFP1_uc010iqn.3_Nonsense_Mutation_p.R158*	p.R212*	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	7	897	+	all_hematologic(180;0.24)	Renal(120;0.0854)	212					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Nonsense_Mutation	SNP	ENST00000307765.5	37	c.634C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	45	11.948519	0.99620	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	.	.	.	5.27	3.39	0.38822	.	0.388659	0.29198	N	0.012848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	5.9521	0.19253	0.1418:0.6411:0.1377:0.0794	.	.	.	.	X	131;212;131;212;179;82	.	ENSP00000303248:R212X	R	+	1	2	RXFP1	159752918	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.331000	0.33793	1.313000	0.45069	0.655000	0.94253	CGA		0.294	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		T	159533468	C	T	159533468	4	4	258	1	0	0	0	0	0	1	0	0	13759	876	31	2	664	2	RXFP1	4	159533468	Nonsense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	77407406	159533468	31620808	15	18393											
SLC6A18	348932	broad.mit.edu	37	chr5	1244838	1244838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggcttacatcatcctcCtgttctggaagccactgaga	8	13	9	11	0	2	1	1	1	1	1	4	3	4	2	3	2	2	2	3	2	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:1244838C>T	ENST00000324642.3	+	11	1735	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	538					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATCATCCTCCTGTTCTGGAA	0.617																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1612-1614)Ctg>Ttg		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							76	73	74					5																	1244838		2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244838C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1612C>T	5.37:g.1244838C>T							p.L538L	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1735	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		538						Silent	SNP	ENST00000324642.3	37	c.1612C>T	CCDS3860.1																																																																																				0.617	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		T	1244838	C	T	1244838	2	4	258	1	0	0	0	0	0	0	0	1	14681	680	24	3		3	SLC6A18	5	1244838	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08		1244838	179670422	16	18394											
NSUN2	54888	broad.mit.edu	37	chr5	6622137	6622137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaatgcatacctggaaagGggacattcatgtcggcatgt	11	10	11	9	1	1	0	1	0	0	0	3	2	2	2	2	4	2	2	2	4	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:6622137G>A	ENST00000264670.6	-	6	925	c.614C>T	c.(613-615)cCc>cTc	p.P205L	NSUN2_ENST00000506139.1_Missense_Mutation_p.P170L|NSUN2_ENST00000539938.1_Intron|NSUN2_ENST00000505264.1_Intron	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	205					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGGAAAGGGGACATTCAT	0.413																																						uc003jdu.3																			0		p.V204A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(613-615)cCc>cTc		Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.							180	150	160					5																	6622137		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6622137G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.614C>T	5.37:g.6622137G>A	ENSP00000264670:p.Pro205Leu					NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.P170L|NSUN2_uc003jdv.3_Intron	p.P205L	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			5	995	-			205					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.614C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265794	0.80358	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.37752	1.18;1.2	5.48	5.48	0.80851	.	0.049095	0.85682	D	0.000000	T	0.34019	0.0883	N	0.20845	0.615	0.80722	D	1	P;B	0.45044	0.849;0.056	P;B	0.47299	0.543;0.071	T	0.03175	-1.1064	10	0.25106	T	0.35	-13.0951	19.3709	0.94484	0.0:0.0:1.0:0.0	.	170;205	B4DQW2;Q08J23	.;NSUN2_HUMAN	L	205;170	ENSP00000264670:P205L;ENSP00000420957:P170L	ENSP00000264670:P205L	P	-	2	0	NSUN2	6675137	1.000000	0.71417	0.702000	0.30337	0.974000	0.67602	9.198000	0.94994	2.576000	0.86940	0.655000	0.94253	CCC		0.413	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		A	6622137	G	A	6622137	3	1	258	1	0	0	0	0	1	0	0	0	10678	1232	43	3	1745	3	NSUN2	5	6622137	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	5377299	6622137	174293123	17	18395											
UTP15	84135	broad.mit.edu	37	chr5	72866479	72866480	+	Nonsense_Mutation	DNP	GG	GG	TA																															gtgttctctccgttgagcatGggcagccagtggagagtgtc																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:72866479_72866480GG>TA	ENST00000296792.4	+	6	871_872	c.616_617GG>TA	c.(616-618)GGg>TAg	p.G206*	UTP15_ENST00000508491.1_Nonsense_Mutation_p.G187*|UTP15_ENST00000543251.1_Nonsense_Mutation_p.G16*	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	206					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CGTTGAGCATGGGCAGCCAGTG	0.401																																						uc003kcw.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(616-618)ggg>TAg		Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.																																				SO:0001587	stop_gained	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866479_72866480GG>TA	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	Exception_encountered	5.37:g.72866479_72866480delinsTA	ENSP00000296792:p.Gly206*					UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	p.G206*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	5	839_840	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	206					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Nonsense_Mutation	DNP	ENST00000296792.4	37	c.616_617GG>TA	CCDS34186.1																																																																																				0.401	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		TA	72866480	GG	TA	72866479	4	4	258	1	0	0	0	0	0	1	0	0	17094	1348	47	5	634	5	UTP15	5	72866479	Nonsense_Mutation	DNP	GG	TCGA-76-4926-01B-01D-1486-08	66244342	72866479	108048781	18	18396											
CMYA5	202333	broad.mit.edu	37	chr5	79026182	79026182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttagtagaagaagagatcGtagaacttgattacccagaa	17	10	9	5	1	0	6	0	1	0	5	1	7	0	6	1	0	2	2	1	0	8	6			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:79026182G>A	ENST00000446378.2	+	2	1625	c.1594G>A	c.(1594-1596)Gta>Ata	p.V532I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	532	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAGATCGTAGAACTTGA	0.418																																						uc003kgc.3																			0		p.I531I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1594-1596)Gta>Ata		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							110	105	107					5																	79026182		1859	4097	5956	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026182G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1594G>A	5.37:g.79026182G>A	ENSP00000394770:p.Val532Ile						p.V532I	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	1666	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	532			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1594G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	1.370	-0.586307	0.03827	.	.	ENSG00000164309	ENST00000446378	T	0.25749	1.78	5.8	3.39	0.38822	.	0.000000	0.52532	N	0.000068	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.02654	T	1	.	8.618	0.33845	0.7147:0.0:0.2853:0.0	.	532	Q8N3K9	CMYA5_HUMAN	I	532	ENSP00000394770:V532I	ENSP00000394770:V532I	V	+	1	0	CMYA5	79061938	0.187000	0.23238	0.938000	0.37757	0.590000	0.36582	1.513000	0.35823	0.125000	0.18397	-0.360000	0.07572	GTA		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79026182	G	A	79026182	3	1	258	1	0	0	0	0	1	0	0	0	3590	1145	40	1	1600	1	CMYA5	5	79026182	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	6159703	79026182	101889078	19	18397											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712004	140712004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctctccgcagagcccGgctacctggtgaccaaggtg	6	6	12	17	3	1	2	0	1	1	1	2	2	1	2	6	3	2	2	6	3	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:140712004G>A	ENST00000517417.1	+	1	1753	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G585S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	585	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677																																						uc003lji.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1753-1755)Ggc>Agc		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							54	65	61					5																	140712004		2202	4299	6501	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712004G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1753G>A	5.37:g.140712004G>A	ENSP00000431083:p.Gly585Ser					PCDHGC5_uc011dan.2_Missense_Mutation_p.G585S	p.G585S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1753	+			586			Cadherin 6.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1753G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305958	0.60305	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.68025	-0.3;-0.3	4.05	3.17	0.36434	Cadherin (3);Cadherin-like (1);	0.000000	0.49916	D	0.000127	D	0.84388	0.5461	M	0.94063	3.49	0.30846	N	0.735108	D;D	0.89917	0.996;1.0	D;D	0.74348	0.95;0.983	D	0.85146	0.0983	10	0.72032	D	0.01	.	12.2822	0.54771	0.0:0.0:0.8286:0.1714	.	585;585	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	585	ENSP00000431083:G585S;ENSP00000367345:G585S	ENSP00000367345:G585S	G	+	1	0	PCDHGA1	140692188	1.000000	0.71417	0.404000	0.26397	0.470000	0.32858	4.561000	0.60809	1.036000	0.39998	0.650000	0.86243	GGC		0.677	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140712004	G	A	140712004	3	1	258	1	0	0	0	0	1	0	0	0	11550	1116	39	2	1755	2	PCDHGA1	5	140712004	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	61685822	140712004	40203256	20	18398											
BTN1A1	696	broad.mit.edu	37	chr6	26508920	26508920	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtggaggtgggagacAggactgactgggcaatcggc	9	5	21	6	1	0	2	0	1	0	1	1	6	0	5	0	8	0	1	0	8	1	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:26508920A>C	ENST00000244513.6	+	7	1165	c.1099A>C	c.(1099-1101)Agg>Cgg	p.R367R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGTGGGAGACAGGACTGACTG	0.532																																						uc003nif.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(1099-1101)Agg>Cgg		Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.							160	143	148					6																	26508920		2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508920A>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1099A>C	6.37:g.26508920A>C							p.R367R	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			6	1156	+			367			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.1099A>C	CCDS4614.1																																																																																				0.532	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		C	26508920	A	C	26508920	2	2	258	1	0	0	0	0	0	0	0	1	1559	179	7	5		5	BTN1A1	6	26508920	Silent	SNP	A	TCGA-76-4926-01B-01D-1486-08		26508920	144606147	21	18399											
KCTD20	222658	broad.mit.edu	37	chr6	36437942	36437942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctgcttagtggatgAtactttagctgtagcccaag	9	11	12	9	0	0	1	0	1	0	0	0	2	0	2	2	2	5	4	2	2	5	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:36437942A>G	ENST00000373731.2	+	2	459	c.68A>G	c.(67-69)gAt>gGt	p.D23G	KCTD20_ENST00000449081.2_Missense_Mutation_p.D23G|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000536244.1_5'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	23					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAGTGGATGATACTTTAGCT	0.473																																						uc003ome.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(67-69)gAt>gGt		Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.							121	115	117					6																	36437942		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36437942A>G	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.68A>G	6.37:g.36437942A>G	ENSP00000362836:p.Asp23Gly					KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Missense_Mutation_p.D23G|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_5'UTR	p.D23G	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN			1	459	+			23					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.68A>G	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818660	0.32145	.	.	ENSG00000112078	ENST00000373731;ENST00000483557;ENST00000498267;ENST00000449081;ENST00000460983	T	0.45276	0.9	5.43	4.27	0.50696	.	0.455607	0.20765	N	0.086087	T	0.11623	0.0283	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05131	-1.0904	10	0.41790	T	0.15	-6.8682	8.8473	0.35179	0.914:0.0:0.086:0.0	.	23;23	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	G	23	ENSP00000362836:D23G	ENSP00000265344:D23G	D	+	2	0	KCTD20	36545920	0.983000	0.35010	0.698000	0.30274	0.803000	0.45373	2.779000	0.47734	0.899000	0.36444	0.533000	0.62120	GAT		0.473	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		G	36437942	A	G	36437942	3	3	258	1	0	0	0	0	1	0	0	0	8108	333	12	4	70	4	KCTD20	6	36437942	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	9929022	36437942	134677125	22	18400											
TFAP2D	83741	broad.mit.edu	37	chr6	50740520	50740520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaactcggagaaagctccCctgcggaaaacttcagaggc	12	5	11	13	2	1	2	1	0	0	2	3	4	2	3	3	3	4	1	3	3	4	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:50740520C>T	ENST00000008391.3	+	8	1530	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAAAGCTCCCCTGCGGAAAA	0.483																																						uc003paf.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1300-1302)ccC>ccT		Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.							54	51	52					6																	50740520		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740520C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1302C>T	6.37:g.50740520C>T						TFAP2D_uc011dwt.2_Non-coding_Transcript	p.P434P	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			7	1814	+	Lung NSC(77;0.0334)		434						Silent	SNP	ENST00000008391.3	37	c.1302C>T	CCDS4933.1																																																																																				0.483	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		T	50740520	C	T	50740520	2	4	258	1	0	0	0	0	0	0	0	1	15787	610	22	3		3	TFAP2D	6	50740520	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	14302578	50740520	120374547	23	18401											
IBTK	25998	broad.mit.edu	37	chr6	82924063	82924066	+	Frame_Shift_Del	DEL	ACTA	ACTA	-																															ggtttgctcttctgcctctcActaactgtttgagcttgatt																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:82924063_82924066delACTA	ENST00000306270.7	-	12	2631_2634	c.2082_2085delTAGT	c.(2080-2085)gttagtfs	p.VS694fs	IBTK_ENST00000510291.1_Frame_Shift_Del_p.VS694fs|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	694					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTGCCTCTCACTAACTGTTTGAG	0.338																																						uc003pjl.1																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2080-2085)gttagtfs		Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.																																				SO:0001589	frameshift_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924063_82924066delACTA	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2082_2085delTAGT	6.37:g.82924063_82924066delACTA	ENSP00000305721:p.Val694fs					IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs	p.V694fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	11	2609_2612	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	694					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Frame_Shift_Del	DEL	ENST00000306270.7	37	c.2082_2085delTAGT	CCDS34490.1																																																																																				0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		-	82924066	ACTA	-	82924063	7	5	258	1	0	1	0	1	0	0	0	0	7476	156	6	0	2048	0	IBTK	6	82924063	Frame_Shift_Del	DEL	ACTA	TCGA-76-4926-01B-01D-1486-08	32183543	82924063	88191004	24	18402											
HDAC9	9734	broad.mit.edu	37	chr7	18624954	18624954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcccatctcacctttaGacctaaggacagacctcagg	11	8	9	13	0	2	2	2	0	1	2	3	4	2	4	4	3	1	0	4	3	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:18624954G>A	ENST00000432645.2	+	2	73	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HDAC9_ENST00000401921.1_Missense_Mutation_p.D25N|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000406451.4_Missense_Mutation_p.D25N|HDAC9_ENST00000417496.2_Missense_Mutation_p.D67N|HDAC9_ENST00000405010.3_Missense_Mutation_p.D25N|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.D53N|HDAC9_ENST00000428307.2_Missense_Mutation_p.D25N|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000441542.2_Missense_Mutation_p.D25N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	25	Interaction with CTBP1. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCACCTTTAGACCTAAGGAC	0.498																																						uc003sui.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(73-75)Gac>Aac		Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	Valproic Acid(DB00313)						137	137	137					7																	18624954		1943	4167	6110	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18624954G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.73G>A	7.37:g.18624954G>A	ENSP00000410337:p.Asp25Asn					HDAC9_uc003sue.3_Missense_Mutation_p.D25N|HDAC9_uc011jyd.2_Missense_Mutation_p.D25N|HDAC9_uc003suh.3_Missense_Mutation_p.D25N|HDAC9_uc003suj.3_Missense_Mutation_p.D25N|HDAC9_uc011jya.2_Missense_Mutation_p.D67N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc003sud.2_Missense_Mutation_p.D25N|HDAC9_uc011jyc.2_Missense_Mutation_p.D25N|HDAC9_uc011jyb.2_Missense_Mutation_p.D25N|HDAC9_uc003suf.2_Missense_Mutation_p.D53N|HDAC9_uc010kud.2_Missense_Mutation_p.D25N|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	p.D25N	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN			1	114	+	all_lung(11;0.187)		25			Interaction with CTBP1 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.73G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	37	6.003066	0.97189	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.68903	0.22;0.25;0.23;0.14;-0.23;0.11;0.25;-0.36;-0.22;-0.21	5.93	5.93	0.95920	.	0.190849	0.36665	N	0.002479	T	0.81983	0.4938	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.994;0.984;0.998;0.998;0.996;0.998;0.998;0.996	T	0.81636	-0.0843	10	0.62326	D	0.03	1.8438	20.3368	0.98748	0.0:0.0:1.0:0.0	.	25;53;67;25;25;25;25;25;25;44	Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;HDAC9_HUMAN;.;.;.	N	67;70;25;25;25;25;25;53;25;25;25;25	ENSP00000401669:D67N;ENSP00000412497:D25N;ENSP00000392564:D25N;ENSP00000384382:D25N;ENSP00000384657:D25N;ENSP00000395655:D25N;ENSP00000384017:D53N;ENSP00000383912:D25N;ENSP00000410337:D25N;ENSP00000408617:D25N	ENSP00000262069:D70N	D	+	1	0	HDAC9	18591479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAC		0.498	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			A	18624954	G	A	18624954	3	1	258	1	0	0	0	0	1	0	0	0	7014	942	33	3	79	3	HDAC9	7	18624954	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		18624954	140513709	25	18403											
BMPER	168667	broad.mit.edu	37	chr7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaagaacgacgcccGccggacacgctccttctcgt	7	7	12	15	6	1	2	0	1	1	1	3	4	2	3	3	2	1	2	3	2	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:34118619G>A	ENST00000297161.2	+	13	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	BMPER_ENST00000426693.1_Missense_Mutation_p.R410H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	410	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622																																						uc011kap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1228-1230)cGc>cAc		Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.							89	94	93					7																	34118619		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118619G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1229G>A	7.37:g.34118619G>A	ENSP00000297161:p.Arg410His						p.R410H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1603	+			410			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1229G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657531	0.96734	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74999	-0.3472	10	0.33940	T	0.23	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	410	Q8N8U9	BMPER_HUMAN	H	410	ENSP00000297161:R410H;ENSP00000393950:R410H	ENSP00000297161:R410H	R	+	2	0	BMPER	34085144	1.000000	0.71417	0.933000	0.37362	0.996000	0.88848	9.476000	0.97823	2.781000	0.95711	0.655000	0.94253	CGC		0.622	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		A	34118619	G	A	34118619	3	1	258	1	0	0	0	0	1	0	0	0	1468	1087	38	1	1275	1	BMPER	7	34118619	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	15493665	34118619	125020044	26	18404											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.R222C(7)|p.V30_R297>G(5)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(664-666)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91	104	100					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55220274	C	T	55220274	3	4	258	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	21101655	55220274	103918389	27	18405											
OR2A5	393046	broad.mit.edu	37	chr7	143748358	143748359	+	Frame_Shift_Ins	INS	-	-	A																															acccgatgctgaaccccttgINSatctatagcctgaggaacgc																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:143748358_143748359insA	ENST00000408906.2	+	1	898_899	c.864_865insA	c.(865-867)atcfs	p.I289fs		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCCT	0.525																																						uc011ktw.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(862-867)ttgatcfs		Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.																																				SO:0001589	frameshift_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748358_143748359insA	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.865dupA	7.37:g.143748359_143748359dupA	ENSP00000386208:p.Ile289fs						p.L288fs	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			0	864_865	+	Melanoma(164;0.0783)		288					B9EGX2|O43885|O43888	Frame_Shift_Ins	INS	ENST00000408906.2	37	c.864_865insA	CCDS43668.1																																																																																				0.525	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143748359	-	A	143748358	7	5	258	1	0	1	1	0	0	0	0	0	10981	1281	45	0	866	0	OR2A5	7	143748358	Frame_Shift_Ins	INS	-	TCGA-76-4926-01B-01D-1486-08	88528084	143748358	15390305	28	18406											
NEFM	4741	broad.mit.edu	37	chr8	24775980	24775980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggggagatggtgctaccaAatacatcactaaatctgtaa	14	9	11	7	0	2	1	1	0	1	1	2	2	2	1	1	4	3	2	1	4	6	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:24775980A>G	ENST00000221166.5	+	3	3394	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.K832R|NEFM_ENST00000518131.1_Missense_Mutation_p.K653R|NEFM_ENST00000433454.2_Missense_Mutation_p.K495R			P07197	NFM_HUMAN	neurofilament, medium polypeptide	871	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTGCTACCAAATACATCACT	0.428																																						uc003xed.4																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2611-2613)aAa>aGa		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.																																				SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775980A>G	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2612A>G	8.37:g.24775980A>G	ENSP00000221166:p.Lys871Arg					NEFM_uc011lac.1_Missense_Mutation_p.K653R|NEFM_uc010lue.3_Missense_Mutation_p.K495R	p.K871R	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	2	2645	+		Prostate(55;0.157)	871			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2612A>G	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547911	0.45383	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.96136	-2.54;-2.16;-2.37;-3.92	4.63	4.63	0.57726	.	0.140668	0.31577	N	0.007414	D	0.93400	0.7895	L	0.51422	1.61	0.44012	D	0.996728	P;D	0.53151	0.759;0.958	B;P	0.45276	0.202;0.475	D	0.93240	0.6625	10	0.72032	D	0.01	.	10.675	0.45781	0.7881:0.2119:0.0:0.0	.	653;871	E7EMV2;P07197	.;NFM_HUMAN	R	871;653;832;495	ENSP00000221166:K871R;ENSP00000427872:K653R;ENSP00000410137:K832R;ENSP00000412295:K495R	ENSP00000221166:K871R	K	+	2	0	NEFM	24831885	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.614000	0.67695	1.717000	0.51406	0.383000	0.25322	AAA		0.428	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		G	24775980	A	G	24775980	3	3	258	1	0	0	0	0	1	0	0	0	10316	14	1	4	2622	4	NEFM	8	24775980	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08		24775980	121588042	29	18407											
RB1CC1	9821	broad.mit.edu	37	chr8	53570293	53570293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtttcaaaatcaaacGtatgtgcatcaatactatct	16	13	5	7	1	4	0	3	0	1	0	4	1	4	0	0	0	3	3	0	0	9	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:53570293G>A	ENST00000025008.5	-	15	2619	c.2096C>T	c.(2095-2097)aCg>aTg	p.T699M	RB1CC1_ENST00000539297.1_Missense_Mutation_p.T699M|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.T699M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAATCAAACGTATGTGCATC	0.398																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2095-2097)aCg>aTg		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							110	111	110					8																	53570293		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53570293G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2096C>T	8.37:g.53570293G>A	ENSP00000025008:p.Thr699Met					RB1CC1_uc003xrf.4_Missense_Mutation_p.T699M	p.T699M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			14	2654	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	699					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2096C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805846	0.70682	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.25579	1.8;1.79;1.79	5.35	5.35	0.76521	.	0.049824	0.85682	D	0.000000	T	0.44519	0.1297	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.35699	-0.9778	10	0.72032	D	0.01	-16.7894	19.4123	0.94679	0.0:0.0:1.0:0.0	.	699;699	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	699	ENSP00000025008:T699M;ENSP00000396067:T699M;ENSP00000445960:T699M	ENSP00000025008:T699M	T	-	2	0	RB1CC1	53732846	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.416000	0.97383	2.649000	0.89929	0.655000	0.94253	ACG		0.398	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53570293	G	A	53570293	3	1	258	1	0	0	0	0	1	0	0	0	13099	1145	40	1	2728	1	RB1CC1	8	53570293	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	28794313	53570293	92793729	30	18408											
RIMS2	9699	broad.mit.edu	37	chr8	104898339	104898339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcataaatcaaagaaaggCggtaaaatgcgccagatttc	16	8	8	9	2	2	2	2	0	0	2	3	2	2	2	2	2	1	1	2	2	6	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:104898339C>T	ENST00000436393.2	+	2	1087	c.846C>T	c.(844-846)ggC>ggT	p.G282G	RIMS2_ENST00000406091.3_Silent_p.G504G|RIMS2_ENST00000507740.1_Silent_p.G312G|RIMS2_ENST00000262231.10_Silent_p.G312G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	535					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(844-846)ggC>ggT		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							58	56	56					8																	104898339		2025	4155	6180	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898339C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.846C>T	8.37:g.104898339C>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.3_Silent_p.G312G|RIMS2_uc003ylr.3_Silent_p.G312G	p.G282G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	1087	+			535					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.846C>T																																																																																					0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	104898339	C	T	104898339	2	4	258	1	0	0	0	0	0	0	0	1	13368	755	27	1		1	RIMS2	8	104898339	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	51328046	104898339	41465683	31	18409											
RIMS2	9699	broad.mit.edu	37	chr8	105257209	105257209	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaggcctggccgtggaaAtgaggaactggatgactcga	13	6	14	8	2	0	2	0	2	0	0	1	6	0	5	2	5	2	0	2	5	3	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:105257209A>T	ENST00000436393.2	+	24	3695	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	RIMS2_ENST00000406091.3_Missense_Mutation_p.M1134L|RIMS2_ENST00000507740.1_Missense_Mutation_p.M948L|RIMS2_ENST00000262231.10_Missense_Mutation_p.M973L|RIMS2_ENST00000339750.2_Missense_Mutation_p.M70L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1196					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCGTGGAAATGAGGAACTG	0.473										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3454-3456)Atg>Ttg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							129	136	134					8																	105257209		2029	4189	6218	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257209A>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3454A>T	8.37:g.105257209A>T	ENSP00000390665:p.Met1152Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.3_Missense_Mutation_p.M948L|RIMS2_uc003ylr.3_Missense_Mutation_p.M973L	p.M1152L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3695	+			1196					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3454A>T		.	.	.	.	.	.	.	.	.	.	A	19.75	3.886162	0.72410	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.17691	2.77;2.47;2.48;2.32;2.75;2.27;2.26	5.05	5.05	0.67936	.	.	.	.	.	T	0.17238	0.0414	N	0.12569	0.235	0.80722	D	1	B;B;B;B;P	0.38863	0.061;0.34;0.027;0.257;0.65	B;P;B;P;P	0.54140	0.018;0.448;0.026;0.557;0.743	T	0.03112	-1.1071	9	0.05525	T	0.97	.	14.9548	0.71104	1.0:0.0:0.0:0.0	.	1196;1152;973;948;1134	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	1171;1134;1196;973;948;1141;1152;70;70	ENSP00000384892:M1134L;ENSP00000262231:M973L;ENSP00000423559:M948L;ENSP00000386228:M1141L;ENSP00000390665:M1152L;ENSP00000428478:M70L;ENSP00000342051:M70L	ENSP00000262231:M973L	M	+	1	0	RIMS2	105326385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.151000	0.77411	2.119000	0.64992	0.528000	0.53228	ATG		0.473	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	105257209	A	T	105257209	3	4	258	1	0	0	0	0	1	0	0	0	13368	101	4	5	3674	5	RIMS2	8	105257209	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	358870	105257209	41106813	32	18410											
TG	7038	broad.mit.edu	37	chr8	134107297	134107297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttccagggaggctccGcactctccccggccgccgtc	3	9	10	19	4	2	0	0	0	2	0	7	1	4	1	6	3	0	2	6	3	0	2	rs139465983		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:134107297G>A	ENST00000220616.4	+	42	7289	c.7249G>A	c.(7249-7251)Gca>Aca	p.A2417T	TG_ENST00000542445.1_Missense_Mutation_p.A787T|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.A550T|TG_ENST00000377869.1_Missense_Mutation_p.A2360T|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2417					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAGGCTCCGCACTCTCCCC	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		18344	0		0	False		,,,				2504	0					uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7249-7251)Gca>Aca		Homo sapiens thyroglobulin (TG), mRNA.		G	,,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	84	84	84		,,7249	5.2	0	8	dbSNP_134	84	0,8600		0,0,4300	yes	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,probably-damaging	,,2417/2769	134107297	2,13004	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134107297G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7249G>A	8.37:g.134107297G>A	ENSP00000220616:p.Ala2417Thr					TG_uc010mdw.3_Missense_Mutation_p.A1176T|TG_uc011ljb.2_Missense_Mutation_p.A786T|TG_uc011ljc.2_Missense_Mutation_p.A550T|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	p.A2417T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7290	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2417					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7249G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.32|14.32	2.499392|2.499392	0.44455|0.44455	4.54E-4|4.54E-4	0.0|0.0	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.58|.	6.07|6.07	5.2|5.2	0.72013|0.72013	Carboxylesterase, type B (1);|.	0.378221|.	0.25555|.	N|.	0.029865|.	T|T	0.54679|0.54679	0.1873|0.1873	M|M	0.63428|0.63428	1.95|1.95	0.30224|0.30224	N|N	0.796542|0.796542	D;P;D|.	0.63880|.	0.993;0.916;0.982|.	P;B;P|.	0.54499|.	0.754;0.366;0.569|.	T|T	0.57266|0.57266	-0.7841|-0.7841	10|5	0.87932|.	D|.	0|.	.|.	11.4331|11.4331	0.50052|0.50052	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	550;787;2417|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|H	2360;1223;2417;787;550|872	ENSP00000367100:A2360T;ENSP00000220616:A2417T;ENSP00000441693:A787T;ENSP00000430430:A550T|.	ENSP00000220616:A2417T|.	A|R	+|+	1|2	0|0	TG|TG	134176479|134176479	0.144000|0.144000	0.22641|0.22641	0.003000|0.003000	0.11579|0.11579	0.196000|0.196000	0.23810|0.23810	3.268000|3.268000	0.51585|0.51585	1.575000|1.575000	0.49775|0.49775	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134107297	G	A	134107297	3	1	258	1	0	0	0	0	1	0	0	0	15810	1087	38	1	7415	1	TG	8	134107297	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	28850088	134107297	12256725	33	18411											
CYP11B2	1585	broad.mit.edu	37	chr8	143999226	143999226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccagggcgctgccaCgcacacctctgcctttgccc	6	6	11	18	2	1	0	0	0	1	0	1	1	1	1	5	2	4	2	5	2	0	1	rs574581657		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:143999226C>T	ENST00000323110.2	-	1	33	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	11					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCGCTGCCACGCACACCTCT	0.612									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0	0	5008	,	,		19374	0.001		0	False		,,,				2504	0					uc003yxk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(31-33)Gtg>Atg		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	Candesartan(DB00796)|Metyrapone(DB01011)						103	104	104					8																	143999226		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999226C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.31G>A	8.37:g.143999226C>T	ENSP00000325822:p.Val11Met						p.V11M	NM_000498	NP_000489	P19099	C11B2_HUMAN			0	34	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		11					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.31G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	3.307	-0.141650	0.06669	.	.	ENSG00000179142	ENST00000323110	T	0.75589	-0.95	2.94	-5.88	0.02290	.	.	.	.	.	T	0.35595	0.0937	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	9	0.26408	T	0.33	.	3.4951	0.07651	0.137:0.1127:0.5396:0.2107	.	11	P19099	C11B2_HUMAN	M	11	ENSP00000325822:V11M	ENSP00000325822:V11M	V	-	1	0	CYP11B2	143996228	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.974000	0.03794	-1.354000	0.02188	-1.246000	0.01523	GTG		0.612	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			T	143999226	C	T	143999226	3	4	258	1	0	0	0	0	1	0	0	0	4146	536	19	1	1516	1	CYP11B2	8	143999226	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	9891929	143999226	2364796	34	18412											
RECQL4	113655	broad.mit.edu	37	chr8	145737371	145737371	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttcctcaaagtagcGgccgagcaggtccttgagcc	7	10	10	14	2	2	1	1	1	1	0	5	2	5	1	5	2	3	2	5	2	2	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:145737371G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.R1106C|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAAAGTAGCGGCCGAGCAGG	0.677																																						uc003zdj.3										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3316-3318)Cgc>Tgc	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.							22	25	24					8																	145737371		2098	4218	6316	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737371G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737371G>A							p.R1106C	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		19	3358	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1106		R -> H (in dbSNP:rs34236392).				Missense_Mutation	SNP	ENST00000301327.4	37	c.3316C>T	CCDS6431.1																																																																																				0.677	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145737371	G	A	145737371	1	1	258	0	1	0	0	0	0	0	0	0	13202	1116	39	2		2	RECQL4	8	145737371	IGR	SNP	G	TCGA-76-4926-01B-01D-1486-08	1738145	145737371	626651	35	18413											
BNC2	54796	broad.mit.edu	37	chr9	16435843	16435843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctcatgtaaaacatgtcGtaagtggggtctgtaaattc	11	13	11	6	1	2	0	1	0	1	0	4	0	2	0	0	3	1	4	0	3	5	4	rs371557826		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:16435843G>A	ENST00000380672.4	-	6	2406	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	BNC2_ENST00000545497.1_Silent_p.Y688Y|BNC2_ENST00000380667.2_Silent_p.Y716Y|BNC2_ENST00000380666.2_Silent_p.Y783Y	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAAACATGTCGTAAGTGGGGT	0.493													G|||	1	0.000199681	0	0	5008	,	,		20700	0		0	False		,,,				2504	0.001					uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2347-2349)taC>taT		Homo sapiens basonuclin 2 (BNC2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	119	100	106		2349	-6	0.7	9		106	0,8600		0,0,4300	no	coding-synonymous	BNC2	NM_017637.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		783/1100	16435843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435843G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2349C>T	9.37:g.16435843G>A						BNC2_uc011lmw.2_Silent_p.Y688Y|BNC2_uc003zmm.3_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.2_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.3_Silent_p.Y548Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	p.Y783Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	2489	-			783						Silent	SNP	ENST00000380672.4	37	c.2349C>T	CCDS6482.2																																																																																				0.493	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		A	16435843	G	A	16435843	2	1	258	1	0	0	0	0	0	0	0	1	1475	1140	40	1		1	BNC2	9	16435843	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08		16435843	124777588	36	18414											
PGM5	5239	broad.mit.edu	37	chr9	71098902	71098902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagccatgtctacagcGtggcgaagacggatagtttt	9	10	15	7	3	1	1	0	0	1	1	1	4	1	3	1	4	3	1	1	4	3	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:71098902G>A	ENST00000396396.1	+	9	1646	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	473					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TGTCTACAGCGTGGCGAAGAC	0.502																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1417-1419)Gtg>Atg		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.							161	135	144					9																	71098902		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098902G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1417G>A	9.37:g.71098902G>A	ENSP00000379678:p.Val473Met						p.V473M	NM_021965	NP_068800	Q15124	PGM5_HUMAN			8	1646	+			473					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1417G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528502	0.85706	.	.	ENSG00000154330	ENST00000396396	T	0.53857	0.6	5.75	4.85	0.62838	.	0.059250	0.64402	D	0.000002	T	0.78496	0.4292	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83903	0.0291	10	0.87932	D	0	.	12.8354	0.57770	0.0807:0.0:0.9193:0.0	.	473	Q15124	PGM5_HUMAN	M	473	ENSP00000379678:V473M	ENSP00000379678:V473M	V	+	1	0	PGM5	70288722	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.766000	0.85320	1.406000	0.46857	0.655000	0.94253	GTG		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		A	71098902	G	A	71098902	3	1	258	1	0	0	0	0	1	0	0	0	11801	1145	40	1	1451	1	PGM5	9	71098902	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	54663059	71098902	70114529	37	18415											
NACC2	138151	broad.mit.edu	37	chr9	138903727	138903727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagcccatgaccgtgcGgtacatctccacgccctccg	6	6	12	17	5	1	1	0	1	1	0	3	2	2	2	5	3	3	1	5	3	1	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:138903727G>A	ENST00000371753.1	-	5	1457	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NACC2_ENST00000277554.2_Missense_Mutation_p.R467C			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	467					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						ATGACCGTGCGGTACATCTCC	0.697																																						uc004cgv.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(1399-1401)Cgc>Tgc		Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.							21	18	19					9																	138903727		2182	4277	6459	SO:0001583	missense	138151				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		g.chr9:138903727G>A	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1399C>T	9.37:g.138903727G>A	ENSP00000360818:p.Arg467Cys					NACC2_uc010nbh.3_Missense_Mutation_p.R106C	p.R467C	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN			5	1555	-			467						Missense_Mutation	SNP	ENST00000371753.1	37	c.1399C>T	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516815	0.85495	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.66099	-0.19;-0.19	5.23	3.38	0.38709	.	0.066769	0.64402	D	0.000013	T	0.45955	0.1368	N	0.24115	0.695	0.53688	D	0.999979	B	0.23490	0.086	B	0.12837	0.008	T	0.37267	-0.9713	10	0.59425	D	0.04	.	10.7966	0.46464	0.1551:0.0:0.8449:0.0	.	467	Q96BF6	NACC2_HUMAN	C	467	ENSP00000360818:R467C;ENSP00000277554:R467C	ENSP00000277554:R467C	R	-	1	0	NACC2	138043548	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	5.557000	0.67313	0.589000	0.29677	0.313000	0.20887	CGC		0.697	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		A	138903727	G	A	138903727	3	1	258	1	0	0	0	0	1	0	0	0	10136	1116	39	2	368	2	NACC2	9	138903727	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	67804825	138903727	2309704	38	18416											
CACNA1B	774	broad.mit.edu	37	chr9	141012523	141012523	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagatccctgtggggcggtCaggagcactggtgagcactc	8	7	16	10	1	1	2	1	1	0	1	3	4	2	3	1	5	2	2	1	5	0	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:141012523C>G	ENST00000371372.1	+	43	6048	c.5903C>G	c.(5902-5904)tCa>tGa	p.S1968*	CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.S1967*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.S1969*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.S1968*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.S1966*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.S1162*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1968					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGGGCGGTCAGGAGCACTG	0.637																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(5896-5898)tCa>tGa		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						18	21	20					9																	141012523		1904	4124	6028	SO:0001587	stop_gained	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012523C>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5903C>G	9.37:g.141012523C>G	ENSP00000360423:p.Ser1968*					CACNA1B_uc022bqn.1_Nonsense_Mutation_p.S1966*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.S1180*	p.S1966*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	6042	+	all_cancers(76;0.166)		1968					B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	37	c.5897C>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	55	23.708774	0.99956	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	4.41	2.34	0.29019	.	5.408420	0.00166	N	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	4.1707	0.10327	0.1497:0.4712:0.2918:0.0873	.	.	.	.	X	1968;1968;1162;1966;1967;1969	.	ENSP00000277549:S1162X	S	+	2	0	CACNA1B	140132344	0.111000	0.22076	0.001000	0.08648	0.056000	0.15407	1.370000	0.34238	0.803000	0.34113	0.561000	0.74099	TCA		0.637	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		G	141012523	C	G	141012523	4	3	258	1	0	0	0	0	0	1	0	0	2539	838	29	5	6069	5	CACNA1B	9	141012523	Nonsense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	2108796	141012523	200908	39	18417											
ARHGAP21	57584	broad.mit.edu	37	chr10	24893240	24893240	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaaacactctaataccaaCcttgattcccttcagactag	14	11	4	12	0	2	3	1	1	1	2	3	3	3	3	3	0	3	0	3	0	6	7			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893240C>T	ENST00000396432.2	-	12	3208		c.e12+1		ARHGAP21_ENST00000320481.6_Splice_Site|ARHGAP21_ENST00000493154.1_Splice_Site	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTAATACCAACCTTGATTCCC	0.279																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.e12+1		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							57	56	56					10																	24893240		2203	4296	6499	SO:0001630	splice_region_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24893240C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2721+1G>A	10.37:g.24893240C>T						ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.K907_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.K742_splice	p.K907_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			12	3208	-			906					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000396432.2	37	c.2721_splice	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401530	0.62288	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5682	0.87927	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP21	24933246	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.003000	0.63959	2.545000	0.85829	0.650000	0.86243	.		0.279	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	Intron	T	24893240	C	T	24893240	5	4	258	1	0	0	0	0	0	0	1	0	871	521	18	3	3214	3	ARHGAP21	10	24893240	Splice_Site	SNP	C	TCGA-76-4926-01B-01D-1486-08		24893240	110641507	40	18418			1	45		2	2	13	N	T_C	2.75219e-05
ARHGAP21	57584	broad.mit.edu	37	chr10	24893252	24893252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaaccttgattccctTcagactagatacgtgcttaa	13	12	5	11	1	1	3	1	1	0	2	2	3	2	3	3	0	4	1	3	0	6	7			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893252T>C	ENST00000396432.2	-	12	3196	c.2710A>G	c.(2710-2712)Aag>Gag	p.K904E	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.K691E|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	903					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGATTCCCTTCAGACTAGAT	0.279																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2710-2712)Aag>Gag		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							57	56	56					10																	24893252		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24893252T>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2710A>G	10.37:g.24893252T>C	ENSP00000379709:p.Lys904Glu					ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	p.K904E	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			11	3197	-			903					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2710A>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867594	0.72065	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.50001	2.72;2.84;0.76;0.76	4.6	4.6	0.57074	.	0.089152	0.85682	D	0.000000	T	0.62792	0.2457	L	0.53249	1.67	0.48696	D	0.99969	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.917	T	0.63125	-0.6707	10	0.45353	T	0.12	.	14.1043	0.65078	0.0:0.0:0.0:1.0	.	894;903	F8W9U9;Q5T5U3	.;RHG21_HUMAN	E	904;691;894;904;739	ENSP00000379709:K904E;ENSP00000365604:K691E;ENSP00000365592:K894E;ENSP00000405018:K904E	ENSP00000365604:K691E	K	-	1	0	ARHGAP21	24933258	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.140000	0.64807	2.058000	0.61347	0.528000	0.53228	AAG		0.279	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24893252	T	C	24893252	3	2	258	1	0	0	0	0	1	0	0	0	871	1792	62	4	3226	4	ARHGAP21	10	24893252	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	12	24893252	110641495	41	18419			1	45		2	2	13	N	T_C	2.75219e-05
OR52N2	390077	broad.mit.edu	37	chr11	5842404	5842404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacatacacatcatcgtggCcaacctttatctgctactgc	10	11	5	15	1	2	0	1	0	1	0	3	0	2	0	3	1	5	1	3	1	4	4	rs369539095		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:5842404C>G	ENST00000317037.2	+	1	861	c.839C>G	c.(838-840)gCc>gGc	p.A280G	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A280G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATCGTGGCCAACCTTTAT	0.398																																						uc010qzp.2																			1	Substitution - Missense(1)	p.A280G(2)|p.A280A(1)	breast(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(838-840)gCc>gGc		Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.							170	144	153					11																	5842404		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842404C>G	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.839C>G	11.37:g.5842404C>G	ENSP00000322801:p.Ala280Gly					TRIM5_uc001mbq.1_Intron	p.A280G	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	839	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	280					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.839C>G	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785237	0.31593	.	.	ENSG00000180988	ENST00000317037	T	0.00207	8.55	6.09	6.09	0.99107	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.00637	0.0021	M	0.76727	2.345	0.22701	N	0.998834	D	0.89917	1.0	D	0.97110	1.0	T	0.57046	-0.7878	10	0.72032	D	0.01	.	19.2573	0.93951	0.0:1.0:0.0:0.0	.	280	Q8NGI0	O52N2_HUMAN	G	280	ENSP00000322801:A280G	ENSP00000322801:A280G	A	+	2	0	OR52N2	5798980	0.000000	0.05858	0.307000	0.25127	0.026000	0.11368	0.138000	0.16016	2.897000	0.99335	0.643000	0.83706	GCC		0.398	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		G	5842404	C	G	5842404	3	3	258	1	0	0	0	0	1	0	0	0	11128	739	26	5	841	5	OR52N2	11	5842404	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		5842404	129164112	42	18420											
TPH1	7166	broad.mit.edu	37	chr11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagtccgcaaaatactttCgacgtttacggtagacattg	12	11	8	10	4	0	1	0	0	0	1	2	2	1	1	2	1	2	3	2	1	6	6			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:18051095C>T	ENST00000250018.2	-	4	996	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264																																						uc001mnp.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(433-435)cGa>cAa		Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						61	65	63					11																	18051095		2198	4289	6487	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18051095C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.434G>A	11.37:g.18051095C>T	ENSP00000250018:p.Arg145Gln					TPH1_uc009yhe.2_Non-coding_Transcript	p.R145Q	NM_004179	NP_004170	P17752	TPH1_HUMAN			3	460	-			145					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.434G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702294	0.96812	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99771	-6.71;-6.71;-6.71	5.93	5.93	0.95920	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96669	0.9495	10	0.87932	D	0	-9.0434	20.3528	0.98816	0.0:1.0:0.0:0.0	.	145	P17752	TPH1_HUMAN	Q	145;145;155	ENSP00000250018:R145Q;ENSP00000343550:R145Q;ENSP00000436081:R155Q	ENSP00000250018:R145Q	R	-	2	0	TPH1	18007671	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.567000	0.82357	2.815000	0.96918	0.650000	0.86243	CGA		0.264	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		T	18051095	C	T	18051095	3	4	258	1	0	0	0	0	1	0	0	0	16398	884	31	2	928	2	TPH1	11	18051095	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	12208691	18051095	116955421	43	18421											
C11orf9	745	broad.mit.edu	37	chr11	61541579	61541579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcccaagtacgtcaagaCgcccgagggcctcaagcccc	10	3	11	17	4	2	1	2	0	0	1	2	3	2	1	5	1	3	1	5	1	4	1	rs193921094		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:61541579C>G	ENST00000278836.5	+	8	1352	c.1256C>G	c.(1255-1257)aCg>aGg	p.T419R	TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.T46R|MYRF_ENST00000265460.5_Missense_Mutation_p.T410R	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	419					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TACGTCAAGACGCCCGAGGGC	0.587																																						uc001nsc.1																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						c.(1255-1257)aCg>aGg		Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.							63	52	56					11																	61541579		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61541579C>G		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1256C>G	11.37:g.61541579C>G	ENSP00000278836:p.Thr419Arg					C11orf9_uc001nse.1_Missense_Mutation_p.T410R	p.T419R	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			7	1352	+			419					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1256C>G	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312652	0.81358	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.50001	1.26;1.26;0.76	4.52	4.52	0.55395	NDT80 DNA-binding domain (2);p53-like transcription factor, DNA-binding (1);	0.056471	0.64402	D	0.000001	T	0.73401	0.3582	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.988	T	0.79538	-0.1762	10	0.87932	D	0	-17.9136	17.7969	0.88575	0.0:1.0:0.0:0.0	.	410;419	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	R	419;410;46	ENSP00000278836:T419R;ENSP00000265460:T410R;ENSP00000333261:T46R	ENSP00000265460:T410R	T	+	2	0	C11orf9	61298155	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.566000	0.67372	2.527000	0.85204	0.462000	0.41574	ACG		0.587	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		G	61541579	C	G	61541579	3	3	258	1	0	0	0	0	1	0	0	0	1671	536	19	5	1309	5	C11orf9	11	61541579	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	43490484	61541579	73464937	44	18422											
GPR137	56834	broad.mit.edu	37	chr11	64056613	64056613	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctctgctcttctcccAggtgccaggaccaggcggcc	5	8	10	18	1	3	0	0	0	3	0	5	1	4	1	5	4	2	1	5	4	0	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:64056613A>C	ENST00000313074.3	+	7	1136		c.e7-1		KCNK4_ENST00000394525.2_5'Flank|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.Q379P|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000411458.1_Splice_Site|GPR137_ENST00000377702.4_Missense_Mutation_p.Q329P|RP11-783K16.10_ENST00000539086.1_RNA	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTCTTCTCCCAGGTGCCAGGA	0.657																																						uc010rni.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.e9-2		Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.							67	69	68					11																	64056613		2201	4297	6498	SO:0001630	splice_region_variant	56834					integral to membrane		g.chr11:64056613A>C	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1032-1A>C	11.37:g.64056613A>C						GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.Q329P|GPR137_uc001nzi.3_Missense_Mutation_p.Q379P|GPR137_uc021qkt.1_Splice_Site_p.R344_splice|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	p.R402_splice	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN			9	1234	+			344					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Splice_Site	SNP	ENST00000313074.3	37	c.1206_splice	CCDS8066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.41|13.41	2.228633|2.228633	0.39399|0.39399	.|.	.|.	ENSG00000173264|ENSG00000173264	ENST00000411458;ENST00000313074|ENST00000377702;ENST00000438980	.|T	.|0.44482	.|0.92	5.3|5.3	4.15|4.15	0.48705|0.48705	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27967	.|0.0689	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P;B	.|0.47253	.|0.892;0.002	.|B;B	.|0.37304	.|0.246;0.002	.|T	.|0.02860	.|-1.1101	.|8	.|0.23891	.|T	.|0.37	.|.	9.4771|9.4771	0.38878|0.38878	0.8214:0.1786:0.0:0.0|0.8214:0.1786:0.0:0.0	.|.	.|379;329	.|Q96N19-2;Q96N19-3	.|.;.	.|P	-1|329;379	.|ENSP00000415698:Q379P	.|ENSP00000366931:Q329P	.|Q	+|+	.|2	.|0	GPR137|GPR137	63813189|63813189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	4.068000|4.068000	0.57534|0.57534	0.930000|0.930000	0.37217|0.37217	-0.466000|-0.466000	0.05196|0.05196	.|CAG		0.657	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155	Intron	C	64056613	A	C	64056613	5	2	258	1	0	0	0	0	0	0	1	0	6645	202	7	5	1344	5	GPR137	11	64056613	Splice_Site	SNP	A	TCGA-76-4926-01B-01D-1486-08	2515034	64056613	70949903	45	18423											
SCN4B	6330	broad.mit.edu	37	chr11	118014756	118014756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggggtcagacttctcattCttcacagtcccctctatgag	7	14	8	12	0	5	2	3	1	3	1	7	2	6	2	2	2	0	0	2	2	1	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118014756C>T	ENST00000324727.4	-	3	401	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	85	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTTCTCATTCTTCACAGTCC	0.507																																						uc001pse.3																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(253-255)aaG>aaA		Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.							162	147	152					11																	118014756		2200	4296	6496	SO:0001819	synonymous_variant	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118014756C>T	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10592	protein-coding gene	gene with protein product		608256	"sodium channel, voltage-gated, type IV, beta"				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.255G>A	11.37:g.118014756C>T						SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	p.K85K	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	2	497	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	85			Ig-like C2-type.		E9PPT5|Q6PIG5	Silent	SNP	ENST00000324727.4	37	c.255G>A	CCDS8389.1																																																																																				0.507	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1			T	118014756	C	T	118014756	2	4	258	1	0	0	0	0	0	0	0	1	13921	912	32	3		3	SCN4B	11	118014756	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	53958143	118014756	16991760	46	18424											
TMEM25	84866	broad.mit.edu	37	chr11	118404798	118404798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccacgggagaacatgtcCctcccgtccaaccttcagct	8	8	8	17	2	1	1	1	0	0	1	4	2	4	1	5	1	4	1	5	1	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118404798C>T	ENST00000313236.5	+	7	944	c.891C>T	c.(889-891)tcC>tcT	p.S297S	TMEM25_ENST00000354064.7_Silent_p.S149S|TMEM25_ENST00000442938.2_Silent_p.S253S|TMEM25_ENST00000359862.4_Silent_p.S253S|TMEM25_ENST00000544878.1_Silent_p.S200S|TMEM25_ENST00000411589.2_Silent_p.S253S|TMEM25_ENST00000354284.4_Silent_p.S297S|TMEM25_ENST00000524725.1_Silent_p.S253S|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000533102.1_Silent_p.S297S	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	297						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGAACATGTCCCTCCCGTCCA	0.532																																						uc001ptk.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(889-891)tcC>tcT		Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.							114	96	102					11																	118404798		2200	4295	6495	SO:0001819	synonymous_variant	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118404798C>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.891C>T	11.37:g.118404798C>T						TMEM25_uc010ryf.2_Silent_p.S200S|TMEM25_uc010rye.2_Silent_p.S297S|TMEM25_uc009zad.3_Silent_p.S253S|TMEM25_uc001pth.3_Silent_p.S253S|TMEM25_uc001pti.3_Silent_p.S149S|TMEM25_uc001ptl.2_Silent_p.S297S|TMEM25_uc001ptm.2_Silent_p.S253S	p.S297S	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	6	1065	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	297					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Silent	SNP	ENST00000313236.5	37	c.891C>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.50|10.50	1.368083|1.368083	0.24771|0.24771	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526973|ENST00000526853	.|.	.|.	.|.	5.92|5.92	4.02|4.02	0.46733|0.46733	.|.	.|.	.|.	.|.	.|.	T|T	0.54854|0.54854	0.1884|0.1884	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52465|0.52465	-0.8572|-0.8572	4|4	.|.	.|.	.|.	-21.8432|-21.8432	5.5519|5.5519	0.17095|0.17095	0.0:0.6683:0.1727:0.159|0.0:0.6683:0.1727:0.159	.|.	.|.	.|.	.|.	L|S	137|132	.|.	.|.	P|P	+|+	2|1	0|0	TMEM25|TMEM25	117910008|117910008	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.339000|0.339000	0.19875|0.19875	1.476000|1.476000	0.48215|0.48215	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.532	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		T	118404798	C	T	118404798	2	4	258	1	0	0	0	0	0	0	0	1	16147	610	22	3		3	TMEM25	11	118404798	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	390042	118404798	16601718	47	18425											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284455	130284455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacttcctcctcaggtaGacagctgccttctgagcaga	8	10	8	15	0	2	3	1	1	1	2	5	3	5	3	4	1	3	3	4	1	1	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:130284455G>C	ENST00000257359.6	-	5	2243	c.1537C>G	c.(1537-1539)Cta>Gta	p.L513V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	513	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCTCAGGTAGACAGCTGCCT	0.637																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1537-1539)Cta>Gta		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.							42	47	45					11																	130284455		2019	4157	6176	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284455G>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1537C>G	11.37:g.130284455G>C	ENSP00000257359:p.Leu513Val					ADAMTS8_uc001qgf.3_5'Flank	p.L513V	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	4	1895	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	513			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1537C>G	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	1.213	-0.629185	0.03610	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.53423	0.62	5.59	3.66	0.41972	.	0.426550	0.26227	N	0.025594	T	0.22820	0.0551	N	0.02708	-0.52	0.22127	N	0.99935	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.02654	T	1	.	18.0957	0.89489	0.0:0.556:0.444:0.0	.	513	Q9UP79	ATS8_HUMAN	V	513;542	ENSP00000257359:L513V	ENSP00000257359:L513V	L	-	1	2	ADAMTS8	129789665	0.088000	0.21588	0.940000	0.37924	0.975000	0.68041	0.630000	0.24553	0.662000	0.31006	0.655000	0.94253	CTA		0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		C	130284455	G	C	130284455	3	2	258	1	0	0	0	0	1	0	0	0	272	933	33	5	1152	5	ADAMTS8	11	130284455	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	11879657	130284455	4722061	48	18426											
ARNTL2	56938	broad.mit.edu	37	chr12	27540171	27540171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatcctagactgcagaagGcttcttatttgtggttggat	10	15	10	6	0	1	2	0	0	1	2	2	3	2	3	1	3	1	3	1	3	5	6			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:27540171G>A	ENST00000266503.5	+	7	593	c.575G>A	c.(574-576)gGc>gAc	p.G192D	ARNTL2_ENST00000546179.1_Missense_Mutation_p.G155D|ARNTL2_ENST00000542388.1_Missense_Mutation_p.G107D|ARNTL2_ENST00000261178.5_Missense_Mutation_p.G144D|ARNTL2_ENST00000395901.2_Missense_Mutation_p.G155D|ARNTL2_ENST00000311001.5_Missense_Mutation_p.G178D|ARNTL2_ENST00000544915.1_Missense_Mutation_p.G158D|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	192	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGCAGAAGGCTTCTTATTT	0.333																																						uc001rht.2																			0		p.E191*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(574-576)gGc>gAc		Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.							101	103	102					12																	27540171		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27540171G>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.575G>A	12.37:g.27540171G>A	ENSP00000266503:p.Gly192Asp					ARNTL2_uc001rhu.2_Missense_Mutation_p.G178D|ARNTL2_uc001rhv.2_Missense_Mutation_p.G144D|ARNTL2_uc001rhw.3_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.2_Missense_Mutation_p.G155D|ARNTL2_uc009zji.2_Missense_Mutation_p.G158D	p.G192D	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			6	794	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		192			PAS 1.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.575G>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259537|4.259537	0.80246|0.80246	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|T;T;T;T;T;T;T	.|0.16324	.|2.35;2.35;2.35;2.35;2.35;2.35;2.35	3.79|3.79	3.79|3.79	0.43588|0.43588	.|PAS (2);Helix-loop-helix DNA-binding (1);PAS fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57388|0.57388	0.2050|0.2050	H|H	0.97896|0.97896	4.1|4.1	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0;1.0;1.0	T|T	0.75340|0.75340	-0.3352|-0.3352	5|10	.|0.87932	.|D	.|0	.|.	14.3878|14.3878	0.66958|0.66958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|155;158;155;144;178;192	.|F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.|.;.;.;.;.;BMAL2_HUMAN	T|D	144|158;155;155;178;144;192;107	.|ENSP00000442438:G158D;ENSP00000379238:G155D;ENSP00000438545:G155D;ENSP00000312247:G178D;ENSP00000261178:G144D;ENSP00000266503:G192D;ENSP00000445836:G107D	.|ENSP00000261178:G144D	A|G	+|+	1|2	0|0	ARNTL2|ARNTL2	27431438|27431438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.603000|6.603000	0.74145|0.74145	2.120000|2.120000	0.65058|0.65058	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.333	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		A	27540171	G	A	27540171	3	1	258	1	0	0	0	0	1	0	0	0	968	1203	42	3	601	3	ARNTL2	12	27540171	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		27540171	106311724	49	18427											
ESPL1	9700	broad.mit.edu	37	chr12	53663689	53663689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatcaaggcatcagctgtCctgagcaagagtatggaggc	11	8	13	9	0	2	3	2	2	0	1	3	4	3	4	1	3	2	4	1	3	3	1	rs200510757		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:53663689C>T	ENST00000257934.4	+	3	1054	c.963C>T	c.(961-963)gtC>gtT	p.V321V	ESPL1_ENST00000552462.1_Silent_p.V321V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	321					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCAGCTGTCCTGAGCAAGA	0.577													C|||	1	0.000199681	0	0	5008	,	,		19821	0.001		0	False		,,,				2504	0				Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(961-963)gtC>gtT		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							88	80	83					12																	53663689		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663689C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.963C>T	12.37:g.53663689C>T						ESPL1_uc001scj.2_5'UTR	p.V321V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			2	1054	+			321						Silent	SNP	ENST00000257934.4	37	c.963C>T	CCDS8852.1																																																																																				0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53663689	C	T	53663689	2	4	258	1	0	0	0	0	0	0	0	1	5253	842	30	3		3	ESPL1	12	53663689	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	26123518	53663689	80188206	50	18428											
TXNRD1	7296	broad.mit.edu	37	chr12	104705084	104705084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggcttatcaggagggcaGacttcaaaagctactaaaaa	16	9	9	7	0	2	1	2	0	0	1	2	2	2	2	0	3	2	3	0	3	8	5	rs368264904		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:104705084G>A	ENST00000525566.1	+	5	455	c.431G>A	c.(430-432)aGa>aAa	p.R144K	TXNRD1_ENST00000354940.6_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R93K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R38K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R46K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R44K|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R144K|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Missense_Mutation_p.R46K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R38K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R109K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R63K	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	144	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CAGGAGGGCAGACTTCAAAAG	0.373																																					Ovarian(139;555 1836 9186 9946 10884)	uc021rcx.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(430-432)aGa>aAa		Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.							66	57	60					12																	104705084		1828	4090	5918	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104705084G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.431G>A	12.37:g.104705084G>A	ENSP00000434516:p.Arg144Lys					TXNRD1_uc021rcy.1_Missense_Mutation_p.R46K|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_5'UTR|TXNRD1_uc021rdb.1_5'UTR|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.R44K|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.R60K|TXNRD1_uc001tkv.2_Non-coding_Transcript	p.R144K	NM_001093771		Q16881	TRXR1_HUMAN			4	453	+			144			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000525566.1	37	c.431G>A	CCDS53820.1	.	.	.	.	.	.	.	.	.	.	G	5.352	0.250287	0.10130	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000526390;ENST00000528079;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T	0.76316	1.71;1.71;1.71;-1.01;1.71;-0.27;1.71;1.71;-0.27;-0.34;-0.29	5.51	-4.76	0.03229	Glutaredoxin (1);Thioredoxin-like fold (2);	0.774566	0.12661	N	0.449676	T	0.39036	0.1063	N	0.03194	-0.395	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.46992	-0.9151	10	0.05721	T	0.95	-0.5065	0.1941	0.00138	0.274:0.1954:0.1743:0.3563	.	44;46;144;109	B7Z2S5;Q16881-4;Q16881;E7EW10	.;.;TRXR1_HUMAN;.	K	144;144;46;38;46;38;63;44;93;38;109;63	ENSP00000434516:R144K;ENSP00000412045:R144K;ENSP00000435929:R46K;ENSP00000431925:R38K;ENSP00000373506:R46K;ENSP00000435123:R38K;ENSP00000440978:R44K;ENSP00000367310:R93K;ENSP00000380844:R38K;ENSP00000393328:R109K;ENSP00000432812:R63K	ENSP00000367310:R93K	R	+	2	0	TXNRD1	103229214	0.004000	0.15560	0.006000	0.13384	0.947000	0.59692	0.005000	0.13129	-0.415000	0.07484	0.585000	0.79938	AGA		0.373	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		A	104705084	G	A	104705084	3	1	258	1	0	0	0	0	1	0	0	0	16804	942	33	3	463	3	TXNRD1	12	104705084	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	51041395	104705084	29146811	51	18429											
AACS	65985	broad.mit.edu	37	chr12	125609456	125609457	+	Frame_Shift_Del	DEL	CA	CA	-																															tctgcaccccagtggaaaccCacagtctccagatgctccac																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:125609456_125609457delCA	ENST00000316519.6	+	12	1401_1402	c.1195_1196delCA	c.(1195-1197)cacfs	p.H399fs	AACS_ENST00000261686.6_Frame_Shift_Del_p.H399fs|AACS_ENST00000316543.10_5'UTR|AACS_ENST00000545511.1_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	399					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTGGAAACCCACAGTCTCCAG	0.505																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1195-1197)cacfs		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.																																				SO:0001589	frameshift_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125609456_125609457delCA	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1195_1196delCA	12.37:g.125609458_125609459delCA	ENSP00000324842:p.His399fs					AACS_uc001uhd.3_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_5'UTR	p.H399fs	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	11	1401_1402	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		399					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Frame_Shift_Del	DEL	ENST00000316519.6	37	c.1195_1196delCA	CCDS9263.1																																																																																				0.505	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		-	125609457	CA	-	125609456	7	5	258	1	0	1	0	1	0	0	0	0	9	594	21	0	1241	0	AACS	12	125609456	Frame_Shift_Del	DEL	CA	TCGA-76-4926-01B-01D-1486-08	20904372	125609456	8242439	52	18430											
LRRC57	255252	broad.mit.edu	37	chr15	42836285	42836285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtcctggagaacttcacGcaaacttcttcttggtggct	9	13	9	10	1	3	1	1	0	2	1	4	2	4	1	1	3	2	2	1	3	3	5	rs199784203		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:42836285G>A	ENST00000323443.2	-	5	1083	c.716C>T	c.(715-717)gCg>gTg	p.A239V	LRRC57_ENST00000563454.1_Missense_Mutation_p.A239V|LRRC57_ENST00000397130.3_Missense_Mutation_p.A239V			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	239						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGAACTTCACGCAAACTTCTT	0.408																																						uc001zqd.2																			0				breast(1)|kidney(1)|lung(5)|prostate(1)	8						c.(715-717)gCg>gTg		Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.							142	135	138					15																	42836285		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42836285G>A	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.716C>T	15.37:g.42836285G>A	ENSP00000326817:p.Ala239Val					LRRC57_uc001zqc.3_Missense_Mutation_p.A239V	p.A239V	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	4	1084	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	239					Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.716C>T	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975996	0.92982	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.43294	0.95;0.95	5.59	4.68	0.58851	.	0.053004	0.85682	D	0.000000	T	0.42854	0.1221	M	0.62723	1.935	0.52501	D	0.999954	B	0.13594	0.008	B	0.06405	0.002	T	0.39563	-0.9608	10	0.72032	D	0.01	.	14.4515	0.67389	0.0709:0.0:0.9291:0.0	.	239	Q8N9N7	LRC57_HUMAN	V	239	ENSP00000326817:A239V;ENSP00000380319:A239V	ENSP00000326817:A239V	A	-	2	0	LRRC57	40623577	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.345000	0.79337	1.370000	0.46153	0.555000	0.69702	GCG		0.408	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		A	42836285	G	A	42836285	3	1	258	1	0	0	0	0	1	0	0	0	9013	1087	38	1	7	1	LRRC57	15	42836285	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		42836285	59695107	53	18431											
HMG20A	10363	broad.mit.edu	37	chr15	77771653	77771653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgaacagactcgatcGttagggaatggtgagtgctc	10	11	14	6	2	0	3	0	2	0	1	3	5	0	4	0	2	2	3	0	2	3	2	rs372307524		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:77771653G>A	ENST00000381714.3	+	10	1468	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	HMG20A_ENST00000336216.4_Missense_Mutation_p.R347H	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	347					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGACTCGATCGTTAGGGAATG	0.368																																						uc002bcr.3																			0		p.D346N(1)|p.D346Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1039-1041)cGt>cAt		Homo sapiens high mobility group 20A (HMG20A), mRNA.		G	HIS/ARG	0,4392		0,0,2196	102	103	103		1040	6	1	15		103	1,8587	1.2+/-3.3	0,1,4293	no	missense	HMG20A	NM_018200.2	29	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	347/348	77771653	1,12979	2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77771653G>A	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.1040G>A	15.37:g.77771653G>A	ENSP00000371133:p.Arg347His					HMG20A_uc002bcs.3_Missense_Mutation_p.R347H|HMG20A_uc021sra.1_5'Flank	p.R347H	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN			9	1241	+			347					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.1040G>A	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484769	0.96323	0.0	1.16E-4	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.74421	-0.84;-0.84	6.03	6.03	0.97812	.	0.152210	0.56097	D	0.000028	D	0.84875	0.5569	L	0.54323	1.7	0.58432	D	0.99999	D	0.89917	1.0	D	0.80764	0.994	D	0.84727	0.0743	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	347	Q9NP66	HM20A_HUMAN	H	347	ENSP00000336856:R347H;ENSP00000371133:R347H	ENSP00000336856:R347H	R	+	2	0	HMG20A	75558708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.096000	0.94182	2.868000	0.98415	0.557000	0.71058	CGT		0.368	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		A	77771653	G	A	77771653	3	1	258	1	0	0	0	0	1	0	0	0	7221	1145	40	1	1070	1	HMG20A	15	77771653	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	34935368	77771653	24759739	54	18432											
TMC3	342125	broad.mit.edu	37	chr15	81627093	81627093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctctagcctggatttgggGaccccagggagaggtgagct	7	9	16	9	0	1	2	0	1	1	1	1	5	1	4	3	5	3	2	3	5	1	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:81627093G>A	ENST00000359440.5	-	21	2562	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.V810V	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGATTTGGGGACCCCAGGGA	0.572																																						uc021ssk.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2425-2427)gtC>gtT		Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.							54	56	55					15																	81627093		1930	4124	6054	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81627093G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2427C>T	15.37:g.81627093G>A						TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	p.V809V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			20	2427	-			809						Silent	SNP	ENST00000359440.5	37	c.2427C>T	CCDS45324.1																																																																																				0.572	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81627093	G	A	81627093	2	1	258	1	0	0	0	0	0	0	0	1	15983	1161	41	3		3	TMC3	15	81627093	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	3855440	81627093	20904299	55	18433											
OTOA	146183	broad.mit.edu	37	chr16	21716537	21716537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacctggaattgctggatgCcactgtggctcaagtcctgc	7	11	12	11	0	1	1	1	1	0	0	2	3	2	3	3	3	3	2	3	3	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:21716537C>T	ENST00000286149.4	+	11	1071	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	OTOA_ENST00000388958.3_Missense_Mutation_p.A343V|OTOA_ENST00000388957.3_Missense_Mutation_p.A19V|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388956.4_Missense_Mutation_p.A264V			Q7RTW8	OTOAN_HUMAN	otoancorin	357					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCTGGATGCCACTGTGGCT	0.577																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1027-1029)gCc>gTc		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							117	107	110					16																	21716537		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21716537C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1070C>T	16.37:g.21716537C>T	ENSP00000286149:p.Ala357Val					LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.A264V|OTOA_uc002dji.3_Missense_Mutation_p.A19V|OTOA_uc010vbk.2_5'UTR	p.A343V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	10	1029	+			357					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	C	15.54	2.862500	0.51482	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.77489	2.58;-1.1;2.58;-1.1	5.3	5.3	0.74995	.	0.195158	0.44097	D	0.000481	T	0.79799	0.4508	M	0.62723	1.935	0.28877	N	0.894633	P;P;P	0.43477	0.808;0.808;0.702	P;P;P	0.46585	0.521;0.461;0.521	T	0.75789	-0.3194	10	0.33141	T	0.24	-10.7692	16.4606	0.84044	0.0:1.0:0.0:0.0	.	264;19;343	B3KWU3;Q7RTW8-2;E9PF51	.;.;.	V	343;357;264;19	ENSP00000373610:A343V;ENSP00000286149:A357V;ENSP00000373608:A264V;ENSP00000373609:A19V	ENSP00000286149:A357V	A	+	2	0	OTOA	21624038	0.115000	0.22152	0.781000	0.31783	0.830000	0.47004	3.972000	0.56838	2.480000	0.83734	0.561000	0.74099	GCC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			T	21716537	C	T	21716537	3	4	258	1	0	0	0	0	1	0	0	0	11302	739	26	3	1116	3	OTOA	16	21716537	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		21716537	68638216	56	18434											
GDPD3	79153	broad.mit.edu	37	chr16	30123709	30123709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaacaggtcctccagaCgaaccatgcgccggtctgac	9	7	11	14	3	2	2	0	1	2	1	4	4	4	3	4	3	3	0	4	3	2	0	rs76435425	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:30123709C>T	ENST00000406256.3	-	5	778	c.401G>A	c.(400-402)cGt>cAt	p.R134H	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	134	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GTCCTCCAGACGAACCATGCG	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0	0	5008	,	,		15417	0.002		0	False		,,,				2504	0					uc002dwp.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(400-402)cGt>cAt		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.		C	HIS/ARG	0,4394		0,0,2197	87	83	85		401	4.8	0	16	dbSNP_131	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GDPD3	NM_024307.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	134/319	30123709	1,12993	2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123709C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.401G>A	16.37:g.30123709C>T	ENSP00000384363:p.Arg134His		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Missense_Mutation_p.R72H|NR_027081_uc010vei.1_5'Flank	p.R134H	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			4	480	-			134			GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.401G>A	CCDS10671.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.89	3.720019	0.68844	0.0	1.16E-4	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.11930	2.73	5.79	4.81	0.61882	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.528397	0.20642	N	0.088389	T	0.28366	0.0701	M	0.75777	2.31	0.09310	N	1	D	0.63046	0.992	P	0.54965	0.765	T	0.14090	-1.0485	10	0.25751	T	0.34	.	12.6531	0.56772	0.0:0.8339:0.1661:0.0	.	134	Q7L5L3	GDPD3_HUMAN	H	134;72	ENSP00000384363:R134H	ENSP00000353909:R72H	R	-	2	0	GDPD3	30031210	0.008000	0.16893	0.013000	0.15412	0.791000	0.44710	2.182000	0.42556	1.401000	0.46761	0.655000	0.94253	CGT		0.602	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		T	30123709	C	T	30123709	3	4	258	1	0	0	0	0	1	0	0	0	6325	536	19	1	579	1	GDPD3	16	30123709	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	8407172	30123709	60231044	57	18435											
IRF8	3394	broad.mit.edu	37	chr16	85952071	85952071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatgggggcaagctggtggGccaggccaccaccacctgcc	7	5	14	15	0	0	0	0	0	0	0	0	0	0	0	6	5	2	2	6	5	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:85952071G>A	ENST00000268638.5	+	7	1072	c.650G>A	c.(649-651)gGc>gAc	p.G217D	IRF8_ENST00000562492.1_Missense_Mutation_p.G13D	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	217					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AAGCTGGTGGGCCAGGCCACC	0.662																																						uc002fjh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(649-651)gGc>gAc		Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.							58	66	63					16																	85952071		2196	4292	6488	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952071G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.650G>A	16.37:g.85952071G>A	ENSP00000268638:p.Gly217Asp						p.G217D	NM_002163	NP_002154	Q02556	IRF8_HUMAN			6	707	+		Prostate(104;0.0771)	217					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.650G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869404	0.17322	.	.	ENSG00000140968	ENST00000268638	D	0.95238	-3.65	4.95	4.95	0.65309	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.162213	0.56097	D	0.000038	D	0.93307	0.7867	M	0.75615	2.305	0.46901	D	0.999243	B	0.18461	0.028	B	0.30646	0.118	D	0.89160	0.3529	10	0.18276	T	0.48	-37.7205	11.9924	0.53182	0.0801:0.0:0.9199:0.0	.	217	Q02556	IRF8_HUMAN	D	217	ENSP00000268638:G217D	ENSP00000268638:G217D	G	+	2	0	IRF8	84509572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.634000	0.61325	2.453000	0.82957	0.650000	0.86243	GGC		0.662	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		A	85952071	G	A	85952071	3	1	258	1	0	0	0	0	1	0	0	0	7836	1203	42	3	672	3	IRF8	16	85952071	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	55828362	85952071	4402682	58	18436											
SPAG5	10615	broad.mit.edu	37	chr17	26907060	26907064	+	Frame_Shift_Del	DEL	GGAAG	GGAAG	-																															tgctgtcaagatgcttcccaGgaaggtcctgtcattaggca																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:26907060_26907064delGGAAG	ENST00000321765.5	-	16	3092_3096	c.2760_2764delCTTCC	c.(2758-2766)accttcctgfs	p.FL921fs	ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	921					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTTCCCAGGAAGGTCCTGTCAT	0.507																																						uc002hbq.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2758-2766)accttcctgfs		Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.																																				SO:0001589	frameshift_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26907060_26907064delGGAAG	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2760_2764delCTTCC	17.37:g.26907060_26907064delGGAAG	ENSP00000323300:p.Phe921fs					SPAG5_uc010waq.1_Frame_Shift_Del_p.T325fs	p.T920fs	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			15	2852_2856	-	Lung NSC(42;0.00431)		920					O95213|Q9BWE8|Q9NT17|Q9UFE6	Frame_Shift_Del	DEL	ENST00000321765.5	37	c.2760_2764delCTTCC	CCDS32594.1																																																																																				0.507	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		-	26907064	GGAAG	-	26907060	7	5	258	1	0	1	0	1	0	0	0	0	14981	991	35	0	853	0	SPAG5	17	26907060	Frame_Shift_Del	DEL	GGAAG	TCGA-76-4926-01B-01D-1486-08		26907060	54288150	59	18437											
MYO18A	399687	broad.mit.edu	37	chr17	27424907	27424907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgcttcttcagtgcaTcgtactgggtctgcagaaga	8	12	10	11	1	4	2	1	0	3	2	5	2	4	2	1	1	4	4	1	1	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:27424907T>C	ENST00000527372.1	-	26	4181	c.4001A>G	c.(4000-4002)gAt>gGt	p.D1334G	MYO18A_ENST00000354329.4_Missense_Mutation_p.D1334G|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1334G|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1334G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1334					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTCAGTGCATCGTACTGGGT	0.542																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4000-4002)gAt>gGt		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							117	120	119					17																	27424907		2114	4243	6357	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27424907T>C	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4001A>G	17.37:g.27424907T>C	ENSP00000437073:p.Asp1334Gly					MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	p.D1334G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4159	-			1334					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4001A>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355528	0.82243	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.89343	-1.12;-2.5;-1.12;-1.12	5.66	5.66	0.87406	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	L	0.58669	1.825	0.50039	D	0.999846	B;P;P;P;P	0.38827	0.002;0.51;0.649;0.649;0.623	B;B;B;B;B	0.41299	0.012;0.273;0.254;0.254;0.353	D	0.89371	0.3675	10	0.62326	D	0.03	.	15.8923	0.79309	0.0:0.0:0.0:1.0	.	1003;946;1334;1334;1334	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	G	1334;1334;1334;1334;1334;230;230;946	ENSP00000346291:D1334G;ENSP00000435932:D1334G;ENSP00000434228:D1334G;ENSP00000437073:D1334G	ENSP00000346291:D1334G	D	-	2	0	MYO18A	24449033	1.000000	0.71417	0.993000	0.49108	0.835000	0.47333	4.705000	0.61838	2.157000	0.67596	0.533000	0.62120	GAT		0.542	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27424907	T	C	27424907	3	2	258	1	0	0	0	0	1	0	0	0	10065	1435	50	4	2231	4	MYO18A	17	27424907	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	517847	27424907	53770303	60	18438											
ACE	1636	broad.mit.edu	37	chr17	61571327	61571327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcccttgacaagatcGcctttatccccttcagctac	9	11	7	14	1	1	3	1	1	0	2	3	3	2	3	4	1	2	1	4	1	3	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:61571327G>A	ENST00000290866.4	+	21	3205	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	ACE_ENST00000290863.6_Missense_Mutation_p.A487T|ACE_ENST00000577647.1_Missense_Mutation_p.A487T|ACE_ENST00000490216.2_Missense_Mutation_p.A487T|ACE_ENST00000421982.2_Missense_Mutation_p.A307T|ACE_ENST00000428043.1_Missense_Mutation_p.A1061T|ACE_ENST00000413513.3_Missense_Mutation_p.A487T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1061	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACAAGATCGCCTTTATCCC	0.552																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(3181-3183)Gcc>Acc		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						154	120	132					17																	61571327		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61571327G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3181G>A	17.37:g.61571327G>A	ENSP00000290866:p.Ala1061Thr					ACE_uc010wpj.2_Missense_Mutation_p.A487T|ACE_uc010ddv.2_Missense_Mutation_p.A288T|ACE_uc002jav.2_Missense_Mutation_p.A487T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A307T	p.A1061T	NM_000789	NP_000780	P12821	ACE_HUMAN			20	3215	+			1061			Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.3181G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207890	0.39003	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.39	2.31	0.28768	.	0.169037	0.51477	N	0.000089	T	0.47266	0.1436	M	0.81942	2.565	0.58432	D	0.99999	P;P;P;B	0.52842	0.956;0.752;0.464;0.279	P;P;B;B	0.45971	0.481;0.499;0.147;0.057	T	0.50268	-0.8848	10	0.59425	D	0.04	-24.8811	9.3683	0.38239	0.0808:0.1451:0.7742:0.0	.	307;487;487;1061	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	T	1061;1061;487;487;307	ENSP00000290866:A1061T;ENSP00000397593:A1061T;ENSP00000290863:A487T;ENSP00000392247:A487T;ENSP00000387760:A307T	ENSP00000290863:A487T	A	+	1	0	ACE	58925059	1.000000	0.71417	0.845000	0.33349	0.794000	0.44872	5.488000	0.66869	0.370000	0.24538	0.561000	0.74099	GCC		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61571327	G	A	61571327	3	1	258	1	0	0	0	0	1	0	0	0	136	1087	38	1	3466	1	ACE	17	61571327	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	34146420	61571327	19623883	61	18439											
PHLPP1	23239	broad.mit.edu	37	chr18	60645528	60645528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagtgactgagtccacgCgcatcctgggctacaccttc	8	8	11	14	3	0	2	0	2	0	0	3	3	2	3	3	2	1	2	3	2	1	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr18:60645528C>T	ENST00000262719.5	+	17	4252	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R828C			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1340	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGAGTCCACGCGCATCCTGGG	0.582																																						uc021ule.1																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(4018-4020)Cgc>Tgc		Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.							45	50	48					18																	60645528		2149	4250	6399	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645528C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4018C>T	18.37:g.60645528C>T	ENSP00000262719:p.Arg1340Cys						p.R1340C	NM_194449	NP_919431	O60346	PHLP1_HUMAN			16	4263	+			1340			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.4018C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030931	0.75504	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.60040	0.22;0.22	4.54	4.54	0.55810	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.80513	0.4637	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85156	0.0989	9	0.87932	D	0	-16.6852	12.447	0.55657	0.2109:0.7891:0.0:0.0	.	1340	O60346	PHLP1_HUMAN	C	828;1340	ENSP00000383170:R828C;ENSP00000262719:R1340C	ENSP00000262719:R1340C	R	+	1	0	PHLPP1	58796508	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	3.769000	0.55303	2.349000	0.79799	0.655000	0.94253	CGC		0.582	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		T	60645528	C	T	60645528	3	4	258	1	0	0	0	0	1	0	0	0	11854	768	27	1	4084	1	PHLPP1	18	60645528	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		60645528	17431720	62	18440											
ATP8B3	148229	broad.mit.edu	37	chr19	1795945	1795945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaagatgaccgtgtcggCgcccttggtgtacaggcaga	8	9	14	10	4	0	3	0	1	0	2	2	4	0	3	2	3	1	2	2	3	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:1795945C>T	ENST00000310127.6	-	18	2222	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A615T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A662T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	662					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGTCGGCGCCCTTGGTG	0.632											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ltw.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1984-1986)Gcc>Acc		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.							74	79	78					19																	1795945		1986	4160	6146	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1795945C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1984G>A	19.37:g.1795945C>T	ENSP00000311336:p.Ala662Thr		OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	ATP8B3_uc002ltv.3_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.3_Non-coding_Transcript	p.A662T	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2218	-		Hepatocellular(1079;0.137)	662					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1984G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099646	0.94197	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.86694	-2.16;-2.16;-2.16	4.81	4.81	0.61882	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	H	0.97983	4.12	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98008	1.0364	10	0.87932	D	0	.	16.9213	0.86165	0.0:1.0:0.0:0.0	.	662;615	O60423;Q7Z485	AT8B3_HUMAN;.	T	662;662;615	ENSP00000311336:A662T;ENSP00000443574:A662T;ENSP00000437115:A615T	ENSP00000311336:A662T	A	-	1	0	ATP8B3	1746945	1.000000	0.71417	0.966000	0.40874	0.614000	0.37383	7.605000	0.82844	2.240000	0.73641	0.555000	0.69702	GCC		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1795945	C	T	1795945	3	4	258	1	0	0	0	0	1	0	0	0	1196	768	27	1	1996	1	ATP8B3	19	1795945	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		1795945	57333038	63	18441											
MYO9B	4650	broad.mit.edu	37	chr19	17320489	17320489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagagtatcgccttcCgcaggctttcgctcctgcga	6	10	11	14	4	0	1	0	0	0	1	4	3	2	1	3	1	2	5	3	1	1	3	rs190164544		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:17320489C>T	ENST00000594824.1	+	36	5866	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1907C|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1907C|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1907	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TATCGCCTTCCGCAGGCTTTC	0.587													C|||	1	0.000199681	0	0.0014	5008	,	,		20480	0		0	False		,,,				2504	0					uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(5719-5721)Cgc>Tgc		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							61	74	70					19																	17320489		2097	4220	6317	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17320489C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5719C>T	19.37:g.17320489C>T	ENSP00000471367:p.Arg1907Cys					MYO9B_uc002nfi.3_Missense_Mutation_p.R1907C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1907C|MYO9B_uc002nfm.1_Missense_Mutation_p.R67C	p.R1907C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			35	5871	+			1907			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.5719C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.49	2.551419	0.45487	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.84873	-1.91	3.87	2.78	0.32641	.	0.000000	0.42172	D	0.000749	D	0.86548	0.5959	L	0.41236	1.265	0.21020	N	0.999807	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.993;0.995	T	0.76280	-0.3017	10	0.54805	T	0.06	.	7.9627	0.30081	0.1825:0.6407:0.1768:0.0	.	1907;1907;1913	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	1907;252	ENSP00000380444:R1907C	ENSP00000314032:R252C	R	+	1	0	MYO9B	17181489	0.997000	0.39634	0.498000	0.27564	0.545000	0.35147	3.972000	0.56838	0.923000	0.37045	0.462000	0.41574	CGC		0.587	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17320489	C	T	17320489	3	4	258	1	0	0	0	0	1	0	0	0	10085	652	23	2	5857	2	MYO9B	19	17320489	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	15524544	17320489	41808494	64	18442											
CRTC1	23373	broad.mit.edu	37	chr19	18870986	18870986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagctccagcagcacCggcaacctcgcggccaacct	9	4	10	18	3	0	1	0	1	0	0	2	1	1	1	5	2	6	5	5	2	2	0	rs140237275	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:18870986C>T	ENST00000321949.8	+	8	860	c.834C>T	c.(832-834)acC>acT	p.T278T	CRTC1_ENST00000338797.6_Silent_p.T294T|CRTC1_ENST00000594658.1_Silent_p.T237T|CRTC1_ENST00000601916.1_Silent_p.T203T	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCAGCAGCACCGGCAACCTCG	0.697																																						uc010ebv.3																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(880-882)acC>acT		Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.		C	,	3,4403	4.2+/-10.8	0,3,2200	40	46	44		882,834	-0.8	1	19	dbSNP_134	44	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous,coding-synonymous	CRTC1	NM_001098482.1,NM_015321.2	,	0,6,6493	TT,TC,CC		0.0349,0.0681,0.0462	,	294/651,278/635	18870986	6,12992	2203	4296	6499	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870986C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.834C>T	19.37:g.18870986C>T						CRTC1_uc002nkb.4_Silent_p.T278T|CRTC1_uc010ebw.3_Silent_p.T143T	p.T294T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN			8	970	+			278						Silent	SNP	ENST00000321949.8	37	c.882C>T	CCDS32963.1																																																																																				0.697	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		T	18870986	C	T	18870986	2	4	258	1	0	0	0	0	0	0	0	1	3899	639	23	2		2	CRTC1	19	18870986	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	1550497	18870986	40257997	65	18443											
CD177	57126	broad.mit.edu	37	chr19	43859911	43859911	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggaccacacactgttatGatggcctcctcaggctcagg	9	8	12	12	0	2	1	2	1	0	0	3	2	3	2	3	5	0	2	3	5	1	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:43859911G>C	ENST00000607517.1	+	0	534				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACACTGTTATGATGGCCTCCT	0.582																																						uc002owi.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(478-480)Gat>Cat		Homo sapiens CD177 molecule (CD177), mRNA.							56	55	56					19																	43859911		1889	4112	6001			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43859911G>C	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859911G>C						CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	p.D160H	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			3	520	+		Prostate(69;0.00682)	160			UPAR/Ly6 1.		Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37	c.478G>C		.	.	.	.	.	.	.	.	.	.	g	6.954	0.545898	0.13312	.	.	ENSG00000204936	ENST00000378009	T	0.69040	-0.37	3.46	-2.14	0.07123	CD59 antigen (1);	.	.	.	.	T	0.50000	0.1590	L	0.36672	1.1	0.09310	N	0.999998	B	0.14805	0.011	B	0.12156	0.007	T	0.38866	-0.9641	9	0.52906	T	0.07	.	4.7442	0.13029	0.385:0.1993:0.4156:0.0	.	160	Q8N6Q3	CD177_HUMAN	H	160	ENSP00000367248:D160H	ENSP00000367248:D160H	D	+	1	0	CD177	48551751	0.002000	0.14202	0.021000	0.16686	0.002000	0.02628	-0.457000	0.06745	-0.497000	0.06641	-0.537000	0.04273	GAT		0.582	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		C	43859911	G	C	43859911	1	2	258	0	1	0	0	0	0	0	0	0	2971	1290	45	5		5	CD177	19	43859911	RNA	SNP	G	TCGA-76-4926-01B-01D-1486-08	24988925	43859911	15269072	66	18444											
JAG1	182	broad.mit.edu	37	chr20	10630946	10630946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacacacacttaaatcCgttaaccaggtcctggcagg	11	7	11	12	1	0	0	0	0	0	0	2	0	2	0	3	5	1	3	3	5	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:10630946C>T	ENST00000254958.5	-	9	1698	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	JAG1_ENST00000423891.2_Missense_Mutation_p.G236R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	395	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACTTAAATCCGTTAACCAGG	0.463									Alagille Syndrome																													uc002wnw.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1183-1185)Gga>Aga		Homo sapiens jagged 1 (JAG1), mRNA.							57	53	54					20																	10630946		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630946C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1183G>A	20.37:g.10630946C>T	ENSP00000254958:p.Gly395Arg					JAG1_uc010gcd.1_5'UTR	p.G395R	NM_000214	NP_000205	P78504	JAG1_HUMAN			8	1699	-			395			EGF-like 5; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1183G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.903936	0.92035	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91631	-2.88;-2.88	5.85	5.85	0.93711	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94748	0.7925	10	0.54805	T	0.06	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	395	P78504	JAG1_HUMAN	R	395;236	ENSP00000254958:G395R;ENSP00000389519:G236R	ENSP00000254958:G395R	G	-	1	0	JAG1	10578946	1.000000	0.71417	0.963000	0.40424	0.903000	0.53119	6.034000	0.70933	2.767000	0.95098	0.655000	0.94253	GGA		0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10630946	C	T	10630946	3	4	258	1	0	0	0	0	1	0	0	0	7934	661	23	2	2545	2	JAG1	20	10630946	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		10630946	52394574	67	18445											
CEP250	11190	broad.mit.edu	37	chr20	34067060	34067060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttcccctcagtcacGtcaccagcaggaggcagcca	10	7	8	16	1	4	0	3	0	1	0	5	1	5	1	4	2	2	2	4	2	0	2	rs377363130		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:34067060G>A	ENST00000397527.1	+	18	2819	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R700H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	700	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTCAGTCACGTCACCAGCAG	0.592																																						uc021wco.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2098-2100)cGt>cAt		Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.		G	HIS/ARG	0,4406		0,0,2203	68	59	62		2099	-10.1	0	20		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP250	NM_007186.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	700/2443	34067060	1,13005	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34067060G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2099G>A	20.37:g.34067060G>A	ENSP00000380661:p.Arg700His					CEP250_uc010zve.2_Missense_Mutation_p.R68H	p.R700H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		17	2746	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		700			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2099G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765334	0.02996	0.0	1.16E-4	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10005	2.92;2.92	5.04	-10.1	0.00402	.	1.909510	0.01844	N	0.035473	T	0.04861	0.0131	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22487	-1.0215	10	0.10111	T	0.7	.	9.4524	0.38734	0.6616:0.0727:0.1928:0.0729	.	700	Q9BV73	CP250_HUMAN	H	700	ENSP00000380661:R700H;ENSP00000341541:R700H	ENSP00000341541:R700H	R	+	2	0	CEP250	33530474	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.006000	0.03671	-2.625000	0.00437	-1.170000	0.01741	CGT		0.592	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		A	34067060	G	A	34067060	3	1	258	1	0	0	0	0	1	0	0	0	3252	1145	40	1	2157	1	CEP250	20	34067060	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	23436114	34067060	28958460	68	18446											
PANX2	56666	broad.mit.edu	37	chr22	50615939	50615939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggcgcgtccccggaCggggcggcaggtgcggggcc	2	3	22	14	7	0	0	0	0	0	0	1	1	1	1	3	8	1	2	3	8	0	0	rs35622534	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:50615939C>T	ENST00000395842.2	+	2	798	c.798C>T	c.(796-798)gaC>gaT	p.D266D	PANX2_ENST00000159647.5_Silent_p.D266D	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	266					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGTCCCCGGACGGGGCGGCAG	0.692																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(796-798)gaC>gaT		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							17	18	18					22																	50615939		2178	4267	6445	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615939C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.798C>T	22.37:g.50615939C>T						PANX2_uc003bjp.4_Silent_p.D132D|PANX2_uc003bjo.4_Silent_p.D266D	p.D266D	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	798	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	266					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.798C>T	CCDS14085.2																																																																																				0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		T	50615939	C	T	50615939	2	4	258	1	0	0	0	0	0	0	0	1	11421	535	19	1		1	PANX2	22	50615939	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08		50615939	688627	69	18447											
MXRA5	25878	broad.mit.edu	37	chrX	3235282	3235282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggggaggtgcccgtgatgCgcgcgttggctgctgcacgc	3	7	19	12	6	0	1	0	1	0	0	0	2	0	2	1	4	4	4	1	4	0	1	rs199912992		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:3235282C>T	ENST00000217939.6	-	6	6594	c.6440G>A	c.(6439-6441)cGc>cAc	p.R2147H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2147	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCGTGATGCGCGCGTTGGC	0.706																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6439-6441)cGc>cAc		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							31	25	27					X																	3235282		2202	4299	6501	SO:0001583	missense	25878					extracellular region		g.chrX:3235282C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6440G>A	X.37:g.3235282C>T	ENSP00000217939:p.Arg2147His						p.R2147H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6597	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2147			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6440G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401625	0.42613	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.79141	-1.24	3.48	2.3	0.28687	Immunoglobulin-like (1);	0.288954	0.17485	U	0.172555	D	0.83064	0.5173	M	0.69523	2.12	0.28271	N	0.924397	D	0.89917	1.0	D	0.72075	0.976	T	0.72659	-0.4226	10	0.54805	T	0.06	.	4.6936	0.12793	0.0:0.5058:0.0:0.4942	.	2147	Q9NR99	MXRA5_HUMAN	H	2147	ENSP00000217939:R2147H	ENSP00000217939:R2147H	R	-	2	0	MXRA5	3245282	1.000000	0.71417	0.998000	0.56505	0.264000	0.26372	1.258000	0.32944	1.354000	0.45846	0.597000	0.82753	CGC		0.706	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3235282	C	T	3235282	3	4	258	1	0	0	0	0	1	0	0	0	10003	768	27	1	2054	1	MXRA5	23	3235282	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		3235282	152035278	70	18448											
ATP11C	286410	broad.mit.edu	37	chrX	138908934	138908934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccgaaactggatgatTgccaacaaacactgtgcgtg	11	11	10	9	2	0	1	0	1	0	0	1	3	1	2	2	1	5	1	2	1	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:138908934T>C	ENST00000327569.3	-	2	183	c.85A>G	c.(85-87)Aat>Gat	p.N29D	ATP11C_ENST00000370557.1_Missense_Mutation_p.N26D|ATP11C_ENST00000370543.1_Missense_Mutation_p.N29D|ATP11C_ENST00000361648.2_Missense_Mutation_p.N29D|ATP11C_ENST00000359686.2_Missense_Mutation_p.N29D	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	29					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTGGATGATTGCCAACAAAC	0.373																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(85-87)Aat>Gat		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							136	114	122					X																	138908934		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138908934T>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.85A>G	X.37:g.138908934T>C	ENSP00000332756:p.Asn29Asp					ATP11C_uc004fba.3_Missense_Mutation_p.N29D	p.N29D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			1	184	-	Acute lymphoblastic leukemia(192;0.000127)		29					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.85A>G	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736447	0.49045	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.03	0.992	0.19819	.	0.235955	0.40728	N	0.001024	T	0.33933	0.0880	L	0.27975	0.815	0.26790	N	0.969426	B;B	0.24963	0.115;0.041	B;B	0.28139	0.086;0.039	T	0.24621	-1.0155	10	0.08179	T	0.78	.	11.3771	0.49735	0.0:0.0:0.6225:0.3775	.	29;29	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	D	26;29;29;29;29	ENSP00000359588:N26D;ENSP00000355165:N29D;ENSP00000332756:N29D;ENSP00000359574:N29D;ENSP00000352715:N29D	ENSP00000332756:N29D	N	-	1	0	ATP11C	138736600	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.374000	0.52402	0.307000	0.22880	0.441000	0.28932	AAT		0.373	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138908934	T	C	138908934	3	2	258	1	0	0	0	0	1	0	0	0	1121	1812	63	4	3492	4	ATP11C	23	138908934	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	135673652	138908934	16361626	71	18449											
CAMTA1	23261	broad.mit.edu	37	chr1	7797314	7797314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtctccctgtcttctaGatgtgggcgtgtgccctagg	3	14	13	11	1	3	1	0	0	3	1	4	1	3	1	2	2	1	0	2	2	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:7797314G>A	ENST00000303635.7	+	15	3549		c.e15-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGTCTTCTAGATGTGGGCGT	0.557			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.e15-1		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							98	101	100					1																	7797314		2203	4300	6503	SO:0001630	splice_region_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797314G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3343-1G>A	1.37:g.7797314G>A						CAMTA1_uc010nzv.1_Splice_Site_p.M202_splice|CAMTA1_uc001aok.4_Splice_Site_p.M158_splice|CAMTA1_uc001aoj.3_Splice_Site_p.M71_splice	p.M1115_splice	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3550	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1115					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP	ENST00000303635.7	37	c.3343_splice	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717976	0.68844	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000495233	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	7719901	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	9.807000	0.99171	2.793000	0.96121	0.655000	0.94253	.		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	Intron	A	7797314	G	A	7797314	5	1	259	1	0	0	0	0	0	0	1	0	2613	956	33	3	3400	3	CAMTA1	1	7797314	Splice_Site	SNP	G	TCGA-76-4927-01A-01D-1486-08		7797314	241453307	1	18450											
GJA8	2703	broad.mit.edu	37	chr1	147380445	147380445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcaggcggggactaaCggcggcccggaccagggcag	8	1	19	13	4	0	0	0	0	0	0	0	2	0	2	3	8	2	2	3	8	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:147380445C>T	ENST00000369235.1	+	1	363	c.363C>T	c.(361-363)aaC>aaT	p.N121N	GJA8_ENST00000240986.4_Silent_p.N121N			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	121					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGGGGACTAACGGCGGCCCGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	uc021ovm.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(361-363)aaC>aaT		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							44	51	49					1																	147380445		2203	4299	6502	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380445C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.363C>T	1.37:g.147380445C>T						GJA8_uc001epu.2_Silent_p.N121N	p.N121N	NM_005267	NP_005258	P48165	CXA8_HUMAN			0	363	+	all_hematologic(923;0.0276)		121					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.363C>T	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		T	147380445	C	T	147380445	2	4	259	1	0	0	0	0	0	0	0	1	6405	535	19	1		1	GJA8	1	147380445	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	139583131	147380445	101870176	2	18451											
UBAP2L	9898	broad.mit.edu	37	chr1	154207187	154207187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactatagtcggcgaCgtggtgggccaccaagacgg	11	5	15	10	4	0	2	0	0	0	2	1	4	0	2	2	4	0	0	2	4	3	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:154207187C>T	ENST00000361546.2	+	4	442	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	UBAP2L_ENST00000343815.6_Missense_Mutation_p.R134C|UBAP2L_ENST00000271877.7_Missense_Mutation_p.R134C|UBAP2L_ENST00000428931.1_Missense_Mutation_p.R134C			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	134					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGTCGGCGACGTGGTGGGCC	0.552																																						uc001fep.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(400-402)Cgt>Tgt		Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.							50	52	51					1																	154207187		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154207187C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.400C>T	1.37:g.154207187C>T	ENSP00000355343:p.Arg134Cys					UBAP2L_uc009wot.3_Missense_Mutation_p.R134C|UBAP2L_uc010pek.2_Missense_Mutation_p.R133C|UBAP2L_uc010pel.2_Missense_Mutation_p.R133C|UBAP2L_uc021pad.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.2_Missense_Mutation_p.R37C	p.R134C	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	567	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		134					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.400C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419577	0.83559	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.4;1.38;1.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	P;D;P;P;P	0.91635	0.848;0.999;0.872;0.872;0.818	T	0.54721	-0.8251	10	0.62326	D	0.03	-4.5788	18.6514	0.91431	0.0:1.0:0.0:0.0	.	37;134;134;134;134	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	C	134	ENSP00000345308:R134C;ENSP00000389445:R134C;ENSP00000399920:R134C;ENSP00000271877:R134C;ENSP00000389052:R134C;ENSP00000357490:R134C;ENSP00000389717:R134C;ENSP00000415310:R134C;ENSP00000355343:R134C	ENSP00000271877:R134C	R	+	1	0	UBAP2L	152473811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.094000	0.50227	2.880000	0.98712	0.650000	0.86243	CGT		0.552	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		T	154207187	C	T	154207187	3	4	259	1	0	0	0	0	1	0	0	0	16835	536	19	1	414	1	UBAP2L	1	154207187	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	6826742	154207187	95043434	3	18452											
CACNA1S	779	broad.mit.edu	37	chr1	201058474	201058474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttgtcgaagtgggtgatgCcatggttgggccctggccag	6	10	17	8	1	0	1	0	1	0	0	1	2	0	1	3	4	1	2	3	4	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:201058474C>T	ENST00000362061.3	-	6	1038	c.812G>A	c.(811-813)gGc>gAc	p.G271D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G271D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	271					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGGTGATGCCATGGTTGGG	0.627																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(811-813)gGc>gAc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						86	71	76					1																	201058474		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201058474C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.812G>A	1.37:g.201058474C>T	ENSP00000355192:p.Gly271Asp						p.G271D	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			5	1039	-			271					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.812G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075717	0.94000	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.85	4.85	0.62838	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99804	1.1037	10	0.87932	D	0	.	18.313	0.90207	0.0:1.0:0.0:0.0	.	271	Q13698	CAC1S_HUMAN	D	271	ENSP00000355192:G271D;ENSP00000356307:G271D	ENSP00000355192:G271D	G	-	2	0	CACNA1S	199325097	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.596000	0.82721	2.411000	0.81874	0.650000	0.86243	GGC		0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201058474	C	T	201058474	3	4	259	1	0	0	0	0	1	0	0	0	2547	739	26	3	4965	3	CACNA1S	1	201058474	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	46851287	201058474	48192147	4	18453											
SPATA17	128153	broad.mit.edu	37	chr1	217824518	217824518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaatatcaactaactgtgCaggtaaatataaaatgtaca	19	10	6	6	0	1	0	1	0	0	0	1	0	1	0	0	1	5	4	0	1	10	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:217824518C>A	ENST00000366933.4	+	3	293	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	80	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACTAACTGTGCAGGTAAATAT	0.289																																						uc001hlh.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(238-240)Cag>Aag		Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.							73	82	79					1																	217824518		2203	4287	6490	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217824518C>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.238C>A	1.37:g.217824518C>A	ENSP00000355900:p.Gln80Lys					SPATA17_uc009xdr.1_Non-coding_Transcript	p.Q80K	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	2	264	+			80			IQ 2.		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.238C>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.736913	0.00681	.	.	ENSG00000162814	ENST00000366933	T	0.37915	1.17	4.91	2.57	0.30868	.	0.105878	0.64402	N	0.000003	T	0.05823	0.0152	N	0.00152	-1.975	0.25757	N	0.984998	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	10	0.02654	T	1	-13.3869	4.0665	0.09862	0.6435:0.2222:0.1342:0.0	.	80	Q96L03	SPT17_HUMAN	K	80	ENSP00000355900:Q80K	ENSP00000355900:Q80K	Q	+	1	0	SPATA17	215891141	0.373000	0.25073	0.941000	0.38009	0.230000	0.25150	0.082000	0.14847	0.316000	0.23135	-0.271000	0.10264	CAG		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		A	217824518	C	A	217824518	3	1	259	1	0	0	0	0	1	0	0	0	15001	711	25	5	248	5	SPATA17	1	217824518	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	16766044	217824518	31426103	5	18454											
DISC1	27185	broad.mit.edu	37	chr1	232144583	232144583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgacttggaagcttgtCgattgcttatccagagccta	10	12	10	9	1	0	2	0	1	0	1	2	4	1	3	2	1	4	3	2	1	4	5	rs190975963		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:232144583C>T	ENST00000439617.2	+	11	2148	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000366637.3_Nonsense_Mutation_p.R31*|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_Silent_p.V678V	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	699	Interaction with ATF4 and ATF5.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAAGCTTGTCGATTGCTTAT	0.493																																						uc010pxh.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2191-2193)Cga>Tga		Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.							80	81	81					1																	232144583		1975	4169	6144	SO:0001587	stop_gained	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:232144583C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2095C>T	1.37:g.232144583C>T	ENSP00000403888:p.Arg699*					DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pxe.2_Nonsense_Mutation_p.R699*|DISC1_uc010pxf.2_Silent_p.V678V|DISC1_uc010pxg.2_3'UTR|DISC1_uc010pxd.2_Nonsense_Mutation_p.R344*|DISC1_uc009xfr.3_Nonsense_Mutation_p.R654*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Nonsense_Mutation_p.R577*|DISC1_uc001huz.3_Nonsense_Mutation_p.R699*|DISC1_uc001hva.3_Nonsense_Mutation_p.R699*	p.R731*	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN			11	2244	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	699			Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Nonsense_Mutation	SNP	ENST00000439617.2	37	c.2191C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.402705	0.96030	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560	.	.	.	4.72	2.83	0.33086	.	0.582661	0.16406	N	0.215805	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.1243	6.8046	0.23770	0.175:0.7336:0.0:0.0914	.	.	.	.	X	699;699;731;577;31	.	ENSP00000355597:R699X	R	+	1	2	DISC1	230211206	0.986000	0.35501	0.031000	0.17742	0.799000	0.45148	4.332000	0.59279	0.580000	0.29522	-0.188000	0.12872	CGA		0.493	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		T	232144583	C	T	232144583	4	4	259	1	0	0	0	0	0	1	0	0	4538	876	31	2	2873	2	DISC1	1	232144583	Nonsense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	14320065	232144583	17106038	6	18455											
LPIN1	23175	broad.mit.edu	37	chr2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgcacctggccacctccCccatcctgtcagaaggagct	8	8	8	17	0	1	1	1	0	0	1	3	2	3	2	6	2	2	2	6	2	2	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:11911528C>T	ENST00000256720.2	+	4	412	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	LPIN1_ENST00000396098.1_Missense_Mutation_p.P113S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P113S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P156S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P113S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	107	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517																																						uc010yjm.2																			1	Substitution - Missense(1)	p.P107S(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(466-468)Ccc>Tcc		Homo sapiens lipin 1 (LPIN1), mRNA.							61	66	64					2																	11911528		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11911528C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.319C>T	2.37:g.11911528C>T	ENSP00000256720:p.Pro107Ser					LPIN1_uc010yjn.2_Missense_Mutation_p.P107S|LPIN1_uc002rbt.3_Missense_Mutation_p.P107S|LPIN1_uc002rbs.3_Missense_Mutation_p.P107S	p.P156S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	4	519	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		107					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.466C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160874	0.94727	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.8	5.8	0.92144	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.998;0.99;0.999	D;D;D	0.79108	0.954;0.943;0.992	D	0.89715	0.3915	10	0.62326	D	0.03	-22.2671	20.0609	0.97674	0.0:1.0:0.0:0.0	.	156;107;113	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	S	156;113;113;113;107	ENSP00000397908:P156S;ENSP00000379405:P113S;ENSP00000379406:P113S;ENSP00000401522:P113S;ENSP00000256720:P107S	ENSP00000256720:P107S	P	+	1	0	LPIN1	11828979	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	7.395000	0.79876	2.755000	0.94549	0.655000	0.94253	CCC		0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11911528	C	T	11911528	3	4	259	1	0	0	0	0	1	0	0	0	8918	623	22	3	329	3	LPIN1	2	11911528	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		11911528	231287845	7	18456											
MFSD2B	388931	broad.mit.edu	37	chr2	24246495	24246495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgactttcagctgcagcaCcgtcacgggccaggcctgga	8	7	13	13	2	2	1	2	1	0	0	2	3	2	2	3	3	3	3	3	3	0	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:24246495C>T	ENST00000406420.3	+	12	1228	c.1212C>T	c.(1210-1212)caC>caT	p.H404H	MFSD2B_ENST00000338315.4_Silent_p.H404H	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	404					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCTGCAGCACCGTCACGGGC	0.622																																						uc002reo.2																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1210-1212)caC>caT		Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.							96	102	100					2																	24246495		2166	4246	6412	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24246495C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1212C>T	2.37:g.24246495C>T							p.H404H	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			11	1226	+			404					B5MC32	Silent	SNP	ENST00000406420.3	37	c.1212C>T	CCDS46228.1																																																																																				0.622	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		T	24246495	C	T	24246495	2	4	259	1	0	0	0	0	0	0	0	1	9531	506	18	3		3	MFSD2B	2	24246495	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	12334967	24246495	218952878	8	18457											
SCN1A	6323	broad.mit.edu	37	chr2	166897863	166897863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacaaatgggtccatcaCaaccaggttgacaacatgtt	14	9	8	10	0	2	1	2	1	0	0	3	1	3	1	2	2	3	2	2	2	4	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:166897863C>T	ENST00000303395.4	-	13	2292	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V765M|SCN1A_ENST00000375405.3_Missense_Mutation_p.V754M|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V737M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	765					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGTCCATCACAACCAGGTTG	0.403																																						uc002udo.4																			0		p.I765I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2293-2295)Gtg>Atg		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						116	111	112					2																	166897863		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897863C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2293G>A	2.37:g.166897863C>T	ENSP00000303540:p.Val765Met					SCN1A_uc010fpk.3_Missense_Mutation_p.V737M|SCN1A_uc021vsb.1_Missense_Mutation_p.V754M	p.V765M	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN			14	2520	-			765					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2293G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590459	0.86851	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97688	-4.49;-4.49;-4.45;-4.42	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000014	D	0.98915	0.9632	M	0.86573	2.825	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.604	D;D;B	0.87578	0.998;0.995;0.342	D	0.99651	1.0991	10	0.87932	D	0	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	754;737;765	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	765;765;754;737	ENSP00000407030:V765M;ENSP00000303540:V765M;ENSP00000364554:V754M;ENSP00000386312:V737M	ENSP00000303540:V765M	V	-	1	0	SCN1A	166606109	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	7.773000	0.85462	2.758000	0.94735	0.591000	0.81541	GTG		0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166897863	C	T	166897863	3	4	259	1	0	0	0	0	1	0	0	0	13914	478	17	3	3792	3	SCN1A	2	166897863	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	142651368	166897863	76301510	9	18458											
PIKFYVE	200576	broad.mit.edu	37	chr2	209150648	209150648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttagaggatgatttggCctggcaaaggtattgtccct	9	15	11	6	0	0	2	0	1	0	1	1	3	1	3	2	4	0	2	2	4	3	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:209150648C>T	ENST00000264380.4	+	6	970	c.812C>T	c.(811-813)gCc>gTc	p.A271V	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.A271V|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.A185V|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.A174V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	271					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGATTTGGCCTGGCAAAGG	0.403																																						uc002vcz.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(811-813)gCc>gTc		Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.							98	104	102					2																	209150648		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209150648C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.812C>T	2.37:g.209150648C>T	ENSP00000264380:p.Ala271Val					PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcw.3_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.3_Missense_Mutation_p.A174V|PIKFYVE_uc002vcx.3_Missense_Mutation_p.A185V	p.A271V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			5	970	+			271					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.812C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988727	0.93106	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.65364	1.59;-0.15;1.75	5.92	5.03	0.67393	.	0.138901	0.49916	D	0.000129	T	0.49064	0.1535	N	0.24115	0.695	0.42524	D	0.993012	B;B;B;B;B	0.32829	0.1;0.191;0.386;0.037;0.386	B;B;B;B;B	0.31101	0.014;0.045;0.085;0.034;0.124	T	0.44967	-0.9293	10	0.30078	T	0.28	-5.0696	16.9517	0.86247	0.0:0.8721:0.1279:0.0	.	271;271;185;271;174	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	V	174;271;271;185;271	ENSP00000264380:A271V;ENSP00000384356:A271V;ENSP00000405736:A271V	ENSP00000264380:A271V	A	+	2	0	PIKFYVE	208858893	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.133000	0.71682	1.473000	0.48159	0.655000	0.94253	GCC		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209150648	C	T	209150648	3	4	259	1	0	0	0	0	1	0	0	0	11924	739	26	3	830	3	PIKFYVE	2	209150648	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	42252785	209150648	34048725	10	18459											
TNS1	7145	broad.mit.edu	37	chr2	218713141	218713141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggccgcatgggggccGtgtggccagcatgggcaggc	6	4	21	10	2	0	0	0	0	0	0	0	1	0	1	3	7	1	3	3	7	0	0	rs147452506		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:218713141G>A	ENST00000171887.4	-	17	2176	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	TNS1_ENST00000419504.1_Missense_Mutation_p.T575M|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.T575M	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	575					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CATGGGGGCCGTGTGGCCAGC	0.667																																						uc002vgt.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1723-1725)aCg>aTg		Homo sapiens tensin 1 (TNS1), mRNA.		G	MET/THR	1,4403	2.1+/-5.4	0,1,2201	31	35	34		1724	-7.1	0	2	dbSNP_134	34	0,8594		0,0,4297	no	missense	TNS1	NM_022648.4	81	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	575/1736	218713141	1,12997	2202	4297	6499	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713141G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1724C>T	2.37:g.218713141G>A	ENSP00000171887:p.Thr575Met					TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	p.T575M	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	16	2122	-		Renal(207;0.0483)|Lung NSC(271;0.213)	575					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1724C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.356987	0.05138	2.27E-4	0.0	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.81;-2.81;-2.81;-3.3	4.57	-7.1	0.01547	.	2.901980	0.00744	N	0.001039	T	0.82102	0.4964	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25850	0.003;0.119;0.136;0.136;0.136	B;B;B;B;B	0.25405	0.003;0.06;0.022;0.022;0.022	T	0.75314	-0.3361	10	0.30854	T	0.27	.	4.2392	0.10640	0.5777:0.1344:0.1231:0.1648	.	575;629;575;575;575	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	M	575;575;575;700	ENSP00000171887:T575M;ENSP00000408724:T575M;ENSP00000406016:T575M;ENSP00000405460:T700M	ENSP00000171887:T575M	T	-	2	0	TNS1	218421386	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.391000	0.02525	-1.445000	0.01948	-0.997000	0.02515	ACG		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218713141	G	A	218713141	3	1	259	1	0	0	0	0	1	0	0	0	16340	1145	40	1	3551	1	TNS1	2	218713141	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	9562493	218713141	24486232	11	18460											
COL6A3	1293	broad.mit.edu	37	chr2	238303590	238303590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaatccttttccagtctGattggttcccccaatataag	9	16	5	11	0	2	1	0	1	2	0	5	1	5	1	4	1	0	1	4	1	4	8			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:238303590G>C	ENST00000295550.4	-	3	801	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q117E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q117E|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	117	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTCCAGTCTGATTGGTTCCC	0.453																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(349-351)Cag>Gag		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							91	96	94					2																	238303590		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303590G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.349C>G	2.37:g.238303590G>C	ENSP00000295550:p.Gln117Glu					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	p.Q117E	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	634	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	117			Nonhelical region.|VWFA 1.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.349C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	5.256	0.232643	0.09969	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.81	0.0496	0.14290	von Willebrand factor, type A (3);	0.894418	0.09217	N	0.832364	T	0.63850	0.2546	N	0.12502	0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47459	-0.9116	10	0.25106	T	0.35	.	4.0441	0.09764	0.0927:0.4444:0.222:0.2409	.	117;117	E9PCV6;P12111	.;CO6A3_HUMAN	E	117	ENSP00000295550:Q117E;ENSP00000315609:Q117E;ENSP00000295546:Q117E;ENSP00000389539:Q117E	ENSP00000295550:Q117E	Q	-	1	0	COL6A3	237968329	1.000000	0.71417	0.990000	0.47175	0.438000	0.31896	1.495000	0.35627	0.067000	0.16545	-0.519000	0.04390	CAG		0.453	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238303590	G	C	238303590	3	2	259	1	0	0	0	0	1	0	0	0	3701	1299	45	5	9399	5	COL6A3	2	238303590	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	19590449	238303590	4895783	12	18461											
HDAC4	9759	broad.mit.edu	37	chr2	240061423	240061423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgataccgttctccGcgctgacgctcccggagctg	4	7	14	16	8	1	1	0	1	1	0	3	3	2	2	3	2	2	4	3	2	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:240061423G>A	ENST00000345617.3	-	9	1726	c.935C>T	c.(934-936)gCg>gTg	p.A312V	HDAC4_ENST00000541256.1_Missense_Mutation_p.A281V|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCGTTCTCCGCGCTGACGCT	0.662																																						uc002vyk.4																			0		p.A312A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(934-936)gCg>gTg		Homo sapiens histone deacetylase 4 (HDAC4), mRNA.							80	83	82					2																	240061423		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061423G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.935C>T	2.37:g.240061423G>A	ENSP00000264606:p.Ala312Val					HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.3_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_Non-coding_Transcript	p.A312V	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	8	1727	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	312			Interaction with MEF2A.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.935C>T	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.578|4.578	0.107349|0.107349	0.08780|0.08780	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621|ENST00000445704	T;T|.	0.60040|.	0.22;1.38|.	4.54|4.54	2.56|2.56	0.30785|0.30785	.|.	0.655824|.	0.15983|.	N|.	0.235203|.	T|T	0.33933|0.33933	0.0880|0.0880	L|L	0.28400|0.28400	0.85|0.85	0.18873|0.18873	N|N	0.999989|0.999989	B;B;B;B;B;B|.	0.30114|.	0.012;0.269;0.079;0.242;0.176;0.242|.	B;B;B;B;B;B|.	0.26693|.	0.004;0.072;0.049;0.033;0.022;0.022|.	T|T	0.21143|0.21143	-1.0254|-1.0254	9|5	.|.	.|.	.|.	.|.	10.1678|10.1678	0.42890|0.42890	0.0:0.1477:0.6994:0.1529|0.0:0.1477:0.6994:0.1529	.|.	307;195;281;281;280;312|.	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524|.	.;.;.;.;.;HDAC4_HUMAN|.	V|W	312;195;281;195|56	ENSP00000264606:A312V;ENSP00000443057:A281V|.	.|.	A|R	-|-	2|1	0|2	HDAC4|HDAC4	239726360|239726360	0.013000|0.013000	0.17824|0.17824	0.076000|0.076000	0.20297|0.20297	0.100000|0.100000	0.18952|0.18952	1.392000|1.392000	0.34486|0.34486	1.054000|1.054000	0.40438|0.40438	0.580000|0.580000	0.79431|0.79431	GCG|CGG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		A	240061423	G	A	240061423	3	1	259	1	0	0	0	0	1	0	0	0	7009	1087	38	1	2395	1	HDAC4	2	240061423	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	1757833	240061423	3137950	13	18462											
FGD5	152273	broad.mit.edu	37	chr3	14862435	14862435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgacatcccacctcctttCgacctggcctgcatcaccaa	8	9	6	18	2	1	0	1	0	0	0	5	2	3	0	6	1	1	1	6	1	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:14862435C>T	ENST00000285046.5	+	1	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_ENST00000543601.1_Silent_p.F378F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	619					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1855-1857)ttC>ttT		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							52	53	52					3																	14862435		1960	4128	6088	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862435C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1857C>T	3.37:g.14862435C>T						FGD5_uc011avk.2_Silent_p.F619F	p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1967	+			619					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1857C>T	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		T	14862435	C	T	14862435	2	4	259	1	0	0	0	0	0	0	0	1	5836	883	31	2		2	FGD5	3	14862435	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08		14862435	183159995	14	18463											
SLC6A20	54716	broad.mit.edu	37	chr3	45812818	45812818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagggacacgatgatggCgtgcttctggcagttgttgg	7	11	17	6	2	1	2	0	2	1	0	1	5	1	3	0	4	1	4	0	4	0	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:45812818C>T	ENST00000358525.4	-	6	941	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A276T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A239T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	276					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A239T(1)|p.A276T(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ACGATGATGGCGTGCTTCTGG	0.517																																						uc011bai.2																			2	Substitution - Missense(2)	p.A239T(1)|p.A276T(1)	large_intestine(2)	breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(826-828)Gcc>Acc		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.							215	172	186					3																	45812818		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812818C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.826G>A	3.37:g.45812818C>T	ENSP00000346298:p.Ala276Thr					SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.A239T	p.A276T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	5	950	-			276					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.826G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629099	0.67015	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.2	4.33	0.51752	.	0.056297	0.64402	N	0.000001	T	0.76047	0.3933	L	0.56280	1.765	0.52099	D	0.99994	B;B	0.26120	0.117;0.142	B;B	0.23018	0.025;0.043	T	0.73225	-0.4050	10	0.46703	T	0.11	.	13.5036	0.61471	0.0:0.9243:0.0:0.0757	.	239;276	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	239;276;276;229	ENSP00000296133:A239T;ENSP00000346298:A276T;ENSP00000404310:A276T;ENSP00000395506:A229T	ENSP00000296133:A239T	A	-	1	0	SLC6A20	45787822	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	5.730000	0.68546	1.190000	0.43042	0.467000	0.42956	GCC		0.517	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		T	45812818	C	T	45812818	3	4	259	1	0	0	0	0	1	0	0	0	14684	768	27	1	976	1	SLC6A20	3	45812818	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	30950383	45812818	152209612	15	18464											
PHLDB2	90102	broad.mit.edu	37	chr3	111603533	111603533	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcaagcatgccttcAagcccaaagcaagccaggaa	14	3	11	13	1	1	0	1	0	0	0	1	2	1	2	4	2	6	3	4	2	5	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:111603533A>C	ENST00000431670.2	+	2	1020	c.609A>C	c.(607-609)tcA>tcC	p.S203S	PHLDB2_ENST00000393925.3_Silent_p.S203S|PHLDB2_ENST00000412622.1_Silent_p.S203S|PHLDB2_ENST00000478922.1_Silent_p.S203S|PHLDB2_ENST00000481953.1_Silent_p.S203S|PHLDB2_ENST00000393923.3_Silent_p.S230S|PHLDB2_ENST00000477695.1_Silent_p.S203S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	203						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATGCCTTCAAGCCCAAAGC	0.532																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(607-609)tcA>tcC		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							54	54	54					3																	111603533		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603533A>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.609A>C	3.37:g.111603533A>C						PHLDB2_uc003dyc.3_Silent_p.S230S|PHLDB2_uc003dyd.3_Silent_p.S203S|PHLDB2_uc003dyg.3_Silent_p.S203S|PHLDB2_uc003dyh.3_Silent_p.S203S|PHLDB2_uc003dye.4_Silent_p.S203S|PHLDB2_uc003dyf.4_Silent_p.S203S	p.S203S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			1	1020	+			203					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.609A>C	CCDS46886.1																																																																																				0.532	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		C	111603533	A	C	111603533	2	2	259	1	0	0	0	0	0	0	0	1	11852	117	5	5		5	PHLDB2	3	111603533	Silent	SNP	A	TCGA-76-4927-01A-01D-1486-08	65790715	111603533	86418897	16	18465											
FIP1L1	81608	broad.mit.edu	37	chr4	54294195	54294195	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgctctaattttaggTcctttctgaaagatctgcta	10	16	7	8	0	3	2	0	1	3	1	4	2	4	2	1	1	3	2	1	1	5	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:54294195T>C	ENST00000337488.6	+	13	1213	c.1019T>C	c.(1018-1020)gTc>gCc	p.V340A	FIP1L1_ENST00000306932.6_Splice_Site_p.V266A|FIP1L1_ENST00000507922.1_Splice_Site_p.V325A|FIP1L1_ENST00000358575.5_Splice_Site_p.V325A|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	340	Necessary for stimulating PAPOLA activity.	Breakpoint for interstitial deletion to form the FIP1L1-PDGFRA fusion protein.			mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAATTTTAGGTCCTTTCTGAA	0.353			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003gzy.3				Dom	yes		4	4q12	81608	"Mis, O, T"	FIP1 like 1 (S. cerevisiae)			L	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.e13-1		Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						82	80	81					4																	54294195		2203	4299	6502	SO:0001630	splice_region_variant	81608	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis			cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:54294195T>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1018-1T>C	4.37:g.54294195T>C		TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Splice_Site_p.V325_splice|PDGFRA_uc011bzt.1_Splice_Site_p.V304_splice|PDGFRA_uc011bzu.2_Splice_Site_p.V325_splice|PDGFRA_uc003gzz.3_Splice_Site_p.V266_splice|PDGFRA_uc003hab.3_Splice_Site_p.V305_splice|PDGFRA_uc010ign.3_Splice_Site|FIP1L1_uc003hae.3_Splice_Site	p.V340_splice	NM_030917	NP_112179	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		13	1204	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		0			Ig-like C2-type 4.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1018_splice	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748847	0.69533	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000011	T	0.63438	0.2511	L	0.40543	1.245	0.80722	D	1	P;D;P;P;B;P	0.69078	0.708;0.997;0.584;0.954;0.434;0.812	B;D;B;D;B;P	0.78314	0.425;0.991;0.243;0.954;0.243;0.699	T	0.60265	-0.7297	10	0.30854	T	0.27	-13.4789	15.5479	0.76123	0.0:0.0:0.0:1.0	.	325;108;325;266;340;325	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	A	340;325;325;266	ENSP00000336752:V340A;ENSP00000351383:V325A;ENSP00000425456:V325A;ENSP00000302993:V266A	ENSP00000302993:V266A	V	+	2	0	FIP1L1	53988952	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.422000	0.66453	2.123000	0.65237	0.460000	0.39030	GTC		0.353	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	Missense_Mutation	C	54294195	T	C	54294195	5	2	259	1	0	0	0	0	0	0	1	0	5896	1681	58	4	1069	4	FIP1L1	4	54294195	Splice_Site	SNP	T	TCGA-76-4927-01A-01D-1486-08		54294195	136860081	17	18466											
ANKRD56	345079	broad.mit.edu	37	chr4	77818025	77818025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagcaccgaccaggcGcggatagggccctgatcacg	8	5	14	14	4	2	1	1	1	1	0	2	3	2	2	3	4	1	2	3	4	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:77818025G>A	ENST00000334306.2	-	1	977	c.978C>T	c.(976-978)cgC>cgT	p.R326R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	326																	CCGACCAGGCGCGGATAGGGC	0.657																																						uc003hki.3																			0											c.(976-978)cgC>cgT		Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.							28	36	34					4																	77818025		2203	4299	6502	SO:0001819	synonymous_variant	345079							g.chr4:77818025G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.978C>T	4.37:g.77818025G>A							p.R326R	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			0	978	-			326					B2RP29	Silent	SNP	ENST00000334306.2	37	c.978C>T	CCDS34017.1																																																																																				0.657	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		A	77818025	G	A	77818025	2	1	259	1	0	0	0	0	0	0	0	1	682	1074	38	1		1	ANKRD56	4	77818025	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	23523830	77818025	113336251	18	18467											
TLR2	7097	broad.mit.edu	37	chr4	154625003	154625003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaacgttaacaatccGgaggctgcatattccaaggt	13	9	11	8	2	0	0	0	0	0	0	2	2	2	2	2	4	3	3	2	4	5	3	rs377022229		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:154625003G>A	ENST00000260010.6	+	1	2352	c.944G>A	c.(943-945)cGg>cAg	p.R315Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	315					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTAACAATCCGGAGGCTGCAT	0.338																																						uc003inq.3																			0		p.I314V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(943-945)cGg>cAg		Homo sapiens toll-like receptor 2 (TLR2), mRNA.		G	GLN/ARG	0,4406		0,0,2203	67	70	69		944	5.2	0.1	4		69	2,8594	2.2+/-6.3	0,2,4296	no	missense	TLR2	NM_003264.3	43	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	315/785	154625003	2,13000	2203	4298	6501	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625003G>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.944G>A	4.37:g.154625003G>A	ENSP00000260010:p.Arg315Gln					TLR2_uc003inr.3_Missense_Mutation_p.R315Q|TLR2_uc003ins.3_Missense_Mutation_p.R315Q|TLR2_uc021xtl.1_Missense_Mutation_p.R315Q	p.R315Q	NM_003264	NP_003255	O60603	TLR2_HUMAN			2	1163	+	all_hematologic(180;0.093)	Renal(120;0.117)	315					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.944G>A	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965989	0.53507	0.0	2.33E-4	ENSG00000137462	ENST00000260010	T	0.52526	0.66	6.06	5.22	0.72569	.	0.131490	0.46145	D	0.000319	T	0.33352	0.0860	L	0.53249	1.67	0.09310	N	1	P	0.49559	0.925	B	0.25405	0.06	T	0.49113	-0.8973	10	0.66056	D	0.02	.	9.3792	0.38301	0.2229:0.0:0.7771:0.0	.	315	O60603	TLR2_HUMAN	Q	315	ENSP00000260010:R315Q	ENSP00000260010:R315Q	R	+	2	0	TLR2	154844453	0.454000	0.25728	0.117000	0.21633	0.022000	0.10575	1.308000	0.33528	1.581000	0.49865	0.655000	0.94253	CGG		0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			A	154625003	G	A	154625003	3	1	259	1	0	0	0	0	1	0	0	0	15948	1116	39	2	946	2	TLR2	4	154625003	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	76806978	154625003	36529273	19	18468											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163559	163559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagagaagaagctcccGctgtggcagcatgccaggag	11	4	14	12	1	0	2	0	0	0	2	1	4	1	3	3	2	3	4	3	2	2	0	rs114260538	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163559G>A	ENST00000283426.6	+	11	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652													G|||	4	0.000798722	0	0.0029	5008	,	,		15776	0.001		0	False		,,,				2504	0.001					uc003jak.2																			1	Substitution - coding silent(1)	p.P768P(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2302-2304)ccG>ccA		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.		G		0,4404		0,0,2202	34	40	38		2304	-1.1	0	5	dbSNP_132	38	1,8595		0,1,4297	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		768/1272	163559	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163559G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2304G>A	5.37:g.163559G>A							p.P768P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	2354	+			768						Silent	SNP	ENST00000283426.6	37	c.2304G>A	CCDS34124.1																																																																																				0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	163559	G	A	163559	2	1	259	1	0	0	0	0	0	0	0	1	12072	1074	38	1		1	PLEKHG4B	5	163559	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08		163559	180751701	20	18469											
PIK3R1	5295	broad.mit.edu	37	chr5	67575431	67575432	+	Splice_Site	INS	-	-	A																															tcttaaattgtttcctagatINSacaccctccgtggacttgga																										TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:67575431_67575432insA	ENST00000521381.1	+	5	1120_1121	c.504_505insA	c.(505-507)aca>Aaca	p.T169fs	PIK3R1_ENST00000521657.1_Splice_Site_p.T169fs|PIK3R1_ENST00000274335.5_Splice_Site_p.T169fs|PIK3R1_ENST00000396611.1_Splice_Site_p.T169fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	169	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTTTCCTAGATACACCCTCCGT	0.381			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(502-507)gatacafs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67575431_67575432insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.503-1->A	5.37:g.67575432_67575432dupA		TCGA GBM(4;<1E-08)					p.D168fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	4	1084_1085	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	168			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.504_505insA	CCDS3993.1																																																																																				0.381	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Frame_Shift_Ins	A	67575432	-	A	67575431	8	5	259	1	0	1	1	0	0	0	1	0	11918	1420	49	0	518	0	PIK3R1	5	67575431	Splice_Site	INS	-	TCGA-76-4927-01A-01D-1486-08	67411872	67575431	113339829	21	18470											
PCDHA5	56143	broad.mit.edu	37	chr5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaacgctccggcgttcGcgcagccccagtataccgtg	8	6	11	16	7	0	0	0	0	0	0	2	1	1	0	4	1	3	4	4	1	3	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:140202723G>A	ENST00000529859.1	+	1	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677																																						uc003lhl.2																			0		p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1363-1365)Gcg>Acg		Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.							72	74	73					5																	140202723		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140202723G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1363G>A	5.37:g.140202723G>A	ENSP00000436557:p.Ala455Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A455T|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A455T	p.A455T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1363	+			470			Cadherin 4.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1363G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674192	0.14841	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59906	0.23;0.23;0.23	3.77	1.92	0.25849	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.26738	0.0654	N	0.05199	-0.095	0.09310	N	1	B;P;B	0.40266	0.152;0.71;0.364	B;B;B	0.26517	0.07;0.052;0.036	T	0.07404	-1.0774	9	0.44086	T	0.13	.	6.0873	0.19975	0.1694:0.2873:0.5432:0.0	.	455;455;455	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	455	ENSP00000433416:A455T;ENSP00000436557:A455T;ENSP00000367366:A455T	ENSP00000367366:A455T	A	+	1	0	PCDHA5	140182907	0.000000	0.05858	0.844000	0.33320	0.371000	0.29859	-1.613000	0.02059	0.203000	0.20529	0.558000	0.71614	GCG		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202723	G	A	140202723	3	1	259	1	0	0	0	0	1	0	0	0	11527	1087	38	1	1365	1	PCDHA5	5	140202723	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	72627292	140202723	40712537	22	18471											
GPR111	222611	broad.mit.edu	37	chr6	47647995	47647995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtgcagctcttacacaaCatatcaacagcaatatggac	15	10	6	10	0	2	0	1	0	1	0	2	1	2	1	0	1	6	3	0	1	6	4	rs141145040	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:47647995C>A	ENST00000296862.1	+	5	660	c.660C>A	c.(658-660)aaC>aaA	p.N220K	GPR111_ENST00000398742.2_Missense_Mutation_p.N152K|GPR111_ENST00000507065.1_Missense_Mutation_p.N152K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	220					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTACACAACATATCAACAG	0.438																																						uc010jzj.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(658-660)aaC>aaA		Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.							123	111	115					6																	47647995		1972	4181	6153	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647995C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.660C>A	6.37:g.47647995C>A	ENSP00000296862:p.Asn220Lys					GPR111_uc003oyy.3_Missense_Mutation_p.N152K	p.N220K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			4	661	+			220					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.660C>A		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371747	0.42003	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.21543	2.0;2.0;2.0	5.32	4.38	0.52667	.	0.203527	0.34268	N	0.004115	T	0.07593	0.0191	M	0.72353	2.195	0.28317	N	0.922393	P;P	0.40360	0.598;0.714	B;B	0.41374	0.355;0.194	T	0.40403	-0.9565	10	0.06099	T	0.92	.	3.3306	0.07083	0.1667:0.5527:0.1846:0.0959	.	152;220	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	K	152;220;152	ENSP00000422934:N152K;ENSP00000296862:N220K;ENSP00000381727:N152K	ENSP00000296862:N220K	N	+	3	2	GPR111	47755954	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	0.547000	0.23299	2.787000	0.95880	0.558000	0.71614	AAC		0.438	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		A	47647995	C	A	47647995	3	1	259	1	0	0	0	0	1	0	0	0	6628	477	17	5	470	5	GPR111	6	47647995	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		47647995	123467072	23	18472											
PACRG	135138	broad.mit.edu	37	chr6	163510341	163510341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcactctcaaggtcCtccagcatctggttgtgtca	6	14	9	12	0	5	0	3	0	3	0	8	0	7	0	2	2	1	2	2	2	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:163510341C>T	ENST00000337019.3	+	5	738	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PACRG_ENST00000366889.2_Missense_Mutation_p.L172F|PACRG_ENST00000366888.2_Missense_Mutation_p.L172F	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	172					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCTCAAGGTCCTCCAGCATCT	0.448																																						uc003qua.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(514-516)Ctc>Ttc		Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.							150	128	136					6																	163510341		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163510341C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.514C>T	6.37:g.163510341C>T	ENSP00000337946:p.Leu172Phe					PACRG_uc003qub.3_Missense_Mutation_p.L172F|PACRG_uc003quc.3_Missense_Mutation_p.L172F	p.L172F	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	4	738	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	172					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.514C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314521|4.314521	0.81358|0.81358	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T;T;T|.	0.78246|.	-1.06;-1.16;-1.16|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81479|0.81479	0.4831|0.4831	M|M	0.89904|0.89904	3.07|3.07	0.49687|0.49687	D|D	0.999817|0.999817	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76575|.	0.988;0.987|.	D|D	0.84522|0.84522	0.0628|0.0628	10|5	0.87932|.	D|.	0|.	-24.3856|-24.3856	15.9783|15.9783	0.80086|0.80086	0.1352:0.8648:0.0:0.0|0.1352:0.8648:0.0:0.0	.|.	172;172|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	F|L	172|87	ENSP00000337946:L172F;ENSP00000355855:L172F;ENSP00000355854:L172F|.	ENSP00000337946:L172F|.	L|P	+|+	1|2	0|0	PACRG|PACRG	163430331|163430331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.402000|3.402000	0.52608|0.52608	2.657000|2.657000	0.90304|0.90304	0.591000|0.591000	0.81541|0.81541	CTC|CCT		0.448	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		T	163510341	C	T	163510341	3	4	259	1	0	0	0	0	1	0	0	0	11370	681	24	3	528	3	PACRG	6	163510341	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	115862346	163510341	7604726	24	18473											
INTS1	26173	broad.mit.edu	37	chr7	1522258	1522258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcagcagcgcctcctcCgatgtgtccaccaggaaggc	9	5	13	14	2	0	0	0	0	0	0	3	3	3	2	5	3	3	2	5	3	2	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:1522258C>T	ENST00000404767.3	-	27	3712	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	INTS1_ENST00000389470.4_Silent_p.S1371S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1209					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642																																						uc003skn.2																			0		p.A1209A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(3625-3627)tcG>tcA		Homo sapiens integrator complex subunit 1 (INTS1), mRNA.							47	57	54					7																	1522258		2126	4230	6356	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1522258C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3627G>A	7.37:g.1522258C>T						INTS1_uc003skp.1_3'UTR	p.S1209S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	26	3728	-		Ovarian(82;0.0253)	1209					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.3627G>A	CCDS47526.1																																																																																				0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			T	1522258	C	T	1522258	2	4	259	1	0	0	0	0	0	0	0	1	7775	639	23	2		2	INTS1	7	1522258	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08		1522258	157616405	25	18474											
TXNDC3	51314	broad.mit.edu	37	chr7	37890338	37890338	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattctgcattttgctgtcGtaagaattttgttttcatta	10	20	6	5	1	2	1	1	0	1	1	3	1	2	1	0	0	2	4	0	0	4	9			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:37890338G>A	ENST00000199447.4	+	5	570		c.e5+1		EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8						cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTTTGCTGTCGTAAGAATTTT	0.318																																						uc003tfn.3																			0											c.e5+1		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							81	87	85					7																	37890338		2203	4300	6503	SO:0001630	splice_region_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890338G>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.198+1G>A	7.37:g.37890338G>A							p.V66_splice	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			5	570	+			66			Thioredoxin.		Q9NZH1	Splice_Site	SNP	ENST00000199447.4	37	c.198_splice	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	8.025	0.760384	0.15914	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	5.11	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8198	0.57685	0.0814:0.0:0.9186:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TXNDC3	37856863	1.000000	0.71417	0.947000	0.38551	0.024000	0.10985	6.736000	0.74811	1.288000	0.44600	0.561000	0.74099	.		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Intron	A	37890338	G	A	37890338	5	1	259	1	0	0	0	0	0	0	1	0	16795	1159	40	1	209	1	TXNDC3	7	37890338	Splice_Site	SNP	G	TCGA-76-4927-01A-01D-1486-08	36368080	37890338	121248325	26	18475											
TXNDC3	51314	broad.mit.edu	37	chr7	37924770	37924770	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatctctagcccttgtttTattgagagacaatggcttgc	8	15	8	10	0	1	2	0	1	1	1	3	3	2	2	2	1	2	2	2	1	3	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:37924770T>A	ENST00000199447.4	+	14	1535	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.L388*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	388	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCCCTTGTTTTATTGAGAGAC	0.368																																						uc003tfn.3																			0											c.(1162-1164)tTa>tAa		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							106	93	98					7																	37924770		2203	4300	6503	SO:0001587	stop_gained	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37924770T>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1163T>A	7.37:g.37924770T>A	ENSP00000199447:p.Leu388*						p.L388*	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			13	1535	+			388			NDK 2.		Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.1163T>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	T	33	5.198163	0.94997	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	3.69	3.69	0.42338	.	0.433889	0.17479	N	0.172814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9791	10.7015	0.45931	0.0:0.0:0.0:1.0	.	.	.	.	X	388	.	ENSP00000199447:L388X	L	+	2	0	TXNDC3	37891295	0.999000	0.42202	0.967000	0.41034	0.709000	0.40893	4.476000	0.60216	1.905000	0.55150	0.460000	0.39030	TTA		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		A	37924770	T	A	37924770	4	1	259	1	0	0	0	0	0	1	0	0	16795	1764	61	5	1209	5	TXNDC3	7	37924770	Nonsense_Mutation	SNP	T	TCGA-76-4927-01A-01D-1486-08	34432	37924770	121213893	27	18476											
PKD1L1	168507	broad.mit.edu	37	chr7	47854942	47854942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctcacctgagcccccGgcacacgggctgacggggtg	8	4	15	14	3	1	2	1	2	0	0	1	3	1	2	3	4	2	3	3	4	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:47854942G>A	ENST00000289672.2	-	47	7129	c.7079C>T	c.(7078-7080)cCg>cTg	p.P2360L	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2360					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGAGCCCCCGGCACACGGGC	0.567																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(7078-7080)cCg>cTg		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.							53	51	52					7																	47854942		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47854942G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7079C>T	7.37:g.47854942G>A	ENSP00000289672:p.Pro2360Leu					C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P87L	p.P2360L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			46	7113	-			2360					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7079C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	2.316	-0.356858	0.05138	.	.	ENSG00000158683	ENST00000289672	T	0.20332	2.08	4.4	-0.152	0.13407	.	2.256620	0.02301	N	0.071185	T	0.14960	0.0361	L	0.35723	1.085	0.09310	N	1	B	0.19331	0.035	B	0.08055	0.003	T	0.13602	-1.0503	10	0.17832	T	0.49	-0.1281	2.92	0.05766	0.1031:0.2976:0.4238:0.1755	.	2360	Q8TDX9	PK1L1_HUMAN	L	2360	ENSP00000289672:P2360L	ENSP00000289672:P2360L	P	-	2	0	PKD1L1	47821467	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.768000	0.04715	-0.085000	0.12573	0.655000	0.94253	CCG		0.567	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47854942	G	A	47854942	3	1	259	1	0	0	0	0	1	0	0	0	11964	1116	39	2	1514	2	PKD1L1	7	47854942	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	9930172	47854942	111283721	28	18477											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.R222C(7)|p.V30_R297>G(5)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(664-666)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91	104	100					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55220274	C	T	55220274	3	4	259	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	7365332	55220274	103918389	29	18478											
TAC1	6863	broad.mit.edu	37	chr7	97364145	97364145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttcttctaggacatggCcagatctctcacaaaagtaa	13	12	6	10	0	5	1	1	0	4	1	6	2	5	2	1	2	0	1	1	2	4	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:97364145C>T	ENST00000319273.5	+	5	570	c.273C>T	c.(271-273)ggC>ggT	p.G91G	TAC1_ENST00000346867.4_Silent_p.G76G|TAC1_ENST00000350485.4_Silent_p.G91G	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	91					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					TAGGACATGGCCAGATCTCTC	0.214																																						uc003uop.4																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(271-273)ggC>ggT		Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	Bacitracin(DB00626)						26	29	28					7																	97364145		2152	4229	6381	SO:0001819	synonymous_variant	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97364145C>T	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"Endogenous ligands"	11517	protein-coding gene	gene with protein product	"substance K", "substance P", "neurokinin 1", "neurokinin 2", "neuromedin L", "neurokinin alpha", "neuropeptide K", "neuropeptide gamma", "preprotachykinin"	162320	"tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.273C>T	7.37:g.97364145C>T						TAC1_uc003uoq.4_Silent_p.G91G|TAC1_uc003uor.4_Silent_p.G76G|TAC1_uc003uos.4_Silent_p.G76G	p.G91G	NM_003182	NP_003173	P20366	TKN1_HUMAN			4	519	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		91					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Silent	SNP	ENST00000319273.5	37	c.273C>T	CCDS5649.1																																																																																				0.214	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		T	97364145	C	T	97364145	2	4	259	1	0	0	0	0	0	0	0	1	15495	726	26	3		3	TAC1	7	97364145	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	42143871	97364145	61774518	30	18479											
FAM71F1	84691	broad.mit.edu	37	chr7	128369997	128369997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcatcccttgcacctgtGacctacgttggagggcttca	8	10	10	13	1	1	1	1	1	0	0	2	2	2	2	3	2	3	4	3	2	1	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:128369997G>A	ENST00000315184.5	+	6	948	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM71F1_ENST00000485070.1_Missense_Mutation_p.D198N	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	299										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGCACCTGTGACCTACGTTG	0.532																																						uc003vno.1																			0		p.D299G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(895-897)Gac>Aac		Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.							126	113	117					7																	128369997		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128369997G>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.895G>A	7.37:g.128369997G>A	ENSP00000326652:p.Asp299Asn					FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	p.D299N	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			5	948	+			299					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.895G>A	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304815	0.23736	.	.	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.25912	1.77;3.23	4.27	3.37	0.38596	.	0.000000	0.46442	D	0.000291	T	0.39809	0.1092	L	0.53249	1.67	0.32150	N	0.58439	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.79784	0.993;0.984;0.984	T	0.42832	-0.9428	10	0.20046	T	0.44	-16.9633	10.1651	0.42875	0.0:0.2028:0.7972:0.0	.	297;299;198	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	N	198;299	ENSP00000418192:D198N;ENSP00000326652:D299N	ENSP00000326652:D299N	D	+	1	0	FAM71F1	128157233	0.991000	0.36638	0.694000	0.30210	0.209000	0.24338	2.656000	0.46716	1.114000	0.41781	0.655000	0.94253	GAC		0.532	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		A	128369997	G	A	128369997	3	1	259	1	0	0	0	0	1	0	0	0	5612	1290	45	3	917	3	FAM71F1	7	128369997	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	31005852	128369997	30768666	31	18480											
LMBR1	64327	broad.mit.edu	37	chr7	156556439	156556439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatcccaagaatgagtaaCgcaagaagaagaagcatgac	19	5	9	8	1	0	6	0	2	0	4	1	6	1	6	1	0	2	3	1	0	8	2	rs201832150		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:156556439C>T	ENST00000353442.5	-	6	710	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LMBR1_ENST00000540390.1_Silent_p.A137A|LMBR1_ENST00000354505.4_Silent_p.A158A|LMBR1_ENST00000359422.4_Silent_p.A6A	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	158					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAATGAGTAACGCAAGAAGAA	0.378																																						uc010lqn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(472-474)gcG>gcA		Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.							120	112	115					7																	156556439		2203	4300	6503	SO:0001819	synonymous_variant	64327					integral to membrane	receptor activity	g.chr7:156556439C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.474G>A	7.37:g.156556439C>T						LMBR1_uc003wmv.4_Silent_p.A6A|LMBR1_uc003wmw.4_Silent_p.A158A|LMBR1_uc003wmx.4_Silent_p.A6A|LMBR1_uc011kvx.2_Silent_p.A137A	p.A158A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	5	689	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	158					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Silent	SNP	ENST00000353442.5	37	c.474G>A	CCDS5945.1																																																																																				0.378	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		T	156556439	C	T	156556439	2	4	259	1	0	0	0	0	0	0	0	1	8840	523	19	1		1	LMBR1	7	156556439	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	28186442	156556439	2582224	32	18481											
UBXN8	7993	broad.mit.edu	37	chr8	30609013	30609013	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatggcttaactcatttaaAtctccccaagtttatctgaa	12	15	4	10	0	4	1	2	1	2	0	5	1	4	1	2	1	1	2	2	1	6	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:30609013A>C	ENST00000519246.1	+	0	388							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						ACTCATTTAAATCTCCCCAAG	0.338																																					Colon(169;855 1943 17895 39459 47884)	uc003xii.3																			0				central_nervous_system(1)|lung(2)	3						c.(187-189)aaA>aaC		Homo sapiens UBX domain protein 8 (UBXN8), mRNA.							100	88	92					8																	30609013		1802	4070	5872			7993				single fertilization			g.chr8:30609013A>C	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"UBX domain containing"	30307	protein-coding gene	gene with protein product		602155	"UBX domain containing 6"	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30609013A>C						UBXN8_uc010lvi.3_Intron|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript	p.K63N	NM_005671	NP_005662	O00124	UBXN8_HUMAN			1	206	+			63					Q7Z6F2	Missense_Mutation	SNP	ENST00000519246.1	37	c.189A>C																																																																																					0.338	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		C	30609013	A	C	30609013	1	2	259	0	1	0	0	0	0	0	0	0	16916	98	4	5		5	UBXN8	8	30609013	RNA	SNP	A	TCGA-76-4927-01A-01D-1486-08		30609013	115755009	33	18482											
TG	7038	broad.mit.edu	37	chr8	134107432	134107432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagcctgccaatgtcCtcaatgatgcccagaccaag	12	6	9	14	0	1	3	1	1	0	2	2	3	2	3	6	0	3	0	6	0	4	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:134107432C>T	ENST00000220616.4	+	42	7424	c.7384C>T	c.(7384-7386)Ctc>Ttc	p.L2462F	SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Missense_Mutation_p.L832F|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.L2405F|TG_ENST00000519543.1_Missense_Mutation_p.L595F|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2462					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCAATGTCCTCAATGATGC	0.512																																						uc003ytw.3																			0		p.V2461V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7384-7386)Ctc>Ttc		Homo sapiens thyroglobulin (TG), mRNA.							158	134	142					8																	134107432		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134107432C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7384C>T	8.37:g.134107432C>T	ENSP00000220616:p.Leu2462Phe					TG_uc010mdw.3_Missense_Mutation_p.L1221F|TG_uc011ljb.2_Missense_Mutation_p.L831F|TG_uc011ljc.2_Missense_Mutation_p.L595F|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	p.L2462F	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7425	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2462					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7384C>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.289687|3.289687	0.59976|0.59976	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.56;-0.56|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Carboxylesterase, type B (1);|.	0.199654|.	0.35291|.	N|.	0.003302|.	T|T	0.75671|0.75671	0.3881|0.3881	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.827;1.0|.	D;P;D|.	0.79784|.	0.993;0.536;0.993|.	T|T	0.74300|0.74300	-0.3710|-0.3710	10|5	0.87932|.	D|.	0|.	.|.	16.144|16.144	0.81551|0.81551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	595;832;2462|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	F|L	2405;1268;2462;832;595|917	ENSP00000367100:L2405F;ENSP00000220616:L2462F;ENSP00000441693:L832F;ENSP00000430430:L595F|.	ENSP00000220616:L2462F|.	L|P	+|+	1|2	0|0	TG|TG	134176614|134176614	0.991000|0.991000	0.36638|0.36638	0.994000|0.994000	0.49952|0.49952	0.325000|0.325000	0.28411|0.28411	3.137000|3.137000	0.50562|0.50562	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134107432	C	T	134107432	3	4	259	1	0	0	0	0	1	0	0	0	15810	681	24	3	7550	3	TG	8	134107432	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	103498419	134107432	12256590	34	18483											
CTSL2	1515	broad.mit.edu	37	chr9	99800218	99800218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgccatataatcttctGtgtgttgccttccactggta	7	14	8	12	2	2	0	0	0	2	0	3	0	3	0	4	1	1	2	4	1	3	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:99800218G>C	ENST00000259470.5	-	2	357	c.108C>G	c.(106-108)caC>caG	p.H36Q	CTSV_ENST00000538255.1_Missense_Mutation_p.H36Q|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	36					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										ATAATCTTCTGTGTGTTGCCT	0.483																																						uc010msi.3																			0				endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19						c.(106-108)caC>caG		Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.							134	136	136					9																	99800218		2203	4300	6503	SO:0001583	missense	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99800218G>C	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.108C>G	9.37:g.99800218G>C	ENSP00000259470:p.His36Gln					CTSL2_uc004awt.3_Missense_Mutation_p.H36Q|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	p.H36Q	NM_001201575	NP_001188504	O60911	CATL2_HUMAN			1	315	-		Acute lymphoblastic leukemia(62;0.0559)	36					O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.108C>G	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979140	0.34942	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.87966	-2.32;-2.32	4.5	0.491	0.16867	Proteinase inhibitor I29, cathepsin propeptide (2);	0.047672	0.85682	D	0.000000	D	0.94205	0.8140	H	0.96333	3.805	0.35456	D	0.796149	D	0.65815	0.995	D	0.68039	0.955	D	0.94254	0.7496	9	.	.	.	.	10.0983	0.42488	0.3965:0.0:0.6035:0.0	.	36	O60911	CATL2_HUMAN	Q	36	ENSP00000259470:H36Q;ENSP00000445052:H36Q	.	H	-	3	2	CTSL2	98840039	0.888000	0.30383	0.000000	0.03702	0.033000	0.12548	0.982000	0.29539	-0.224000	0.09928	-1.587000	0.00848	CAC		0.483	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		C	99800218	G	C	99800218	3	2	259	1	0	0	0	0	1	0	0	0	4039	1368	48	5	924	5	CTSL2	9	99800218	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		99800218	41413213	35	18484											
FAM102A	399665	broad.mit.edu	37	chr9	130710496	130710496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagatggacttggcagtcGatggtggccttgggaagaca	9	9	17	6	1	0	2	0	0	0	2	1	6	0	4	1	6	0	1	1	6	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:130710496G>A	ENST00000373095.1	-	6	845	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Missense_Mutation_p.S15L	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	157	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTTGGCAGTCGATGGTGGCCT	0.602																																						uc004bsx.2																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(469-471)tCg>tTg		Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.							90	80	84					9																	130710496		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130710496G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.470C>T	9.37:g.130710496G>A	ENSP00000362187:p.Ser157Leu					FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	p.S157L	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN			5	866	-			157			Ser-rich.		A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.470C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623735	0.66901	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	4.99	4.99	0.66335	.	0.324081	0.34652	N	0.003790	T	0.59756	0.2217	M	0.77313	2.365	0.53688	D	0.999979	D	0.62365	0.991	B	0.41174	0.349	T	0.70457	-0.4866	9	0.87932	D	0	-25.4716	15.0085	0.71530	0.0:0.0:1.0:0.0	.	157	Q5T9C2	F102A_HUMAN	L	157;15	.	ENSP00000362176:S15L	S	-	2	0	FAM102A	129750317	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	7.658000	0.83755	2.307000	0.77673	0.563000	0.77884	TCG		0.602	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			A	130710496	G	A	130710496	3	1	259	1	0	0	0	0	1	0	0	0	5382	1059	37	2	708	2	FAM102A	9	130710496	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	30910278	130710496	10502935	36	18485											
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Frame_Shift_Del	DEL	G	G	-																															ctgtaaagctggaaagggacGaactggtgtaatgatatgtg																								rs121913292|rs121909229		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr10:89692905delG	ENST00000371953.3	+	5	1746	c.389delG	c.(388-390)cgafs	p.R130fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)cgafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							139	129	133					10																	89692905		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905delG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389delG	10.37:g.89692905delG	ENSP00000361021:p.Arg130fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1421	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.389delG	CCDS31238.1																																																																																				0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89692905	G	-	89692905	7	5	259	1	0	1	0	1	0	0	0	0	12738	1058	37	0	407	0	PTEN	10	89692905	Frame_Shift_Del	DEL	G	TCGA-76-4927-01A-01D-1486-08		89692905	45841842	37	18486											
MUC5B	727897	broad.mit.edu	37	chr11	1263896	1263896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggccaccccgacctccaCcctgagaacagctccccctc	8	4	6	23	2	0	1	0	1	0	1	3	3	2	1	8	1	2	1	8	1	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:1263896C>T	ENST00000529681.1	+	31	5844	c.5786C>T	c.(5785-5787)aCc>aTc	p.T1929I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1932I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1929	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCTCCACCCTGAGAACA	0.637																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5785-5787)aCc>aTc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							129	158	148					11																	1263896		2169	4238	6407	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263896C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5786C>T	11.37:g.1263896C>T	ENSP00000436812:p.Thr1929Ile						p.T1929I	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	5845	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1929			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5786C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676191	0.14841	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.29142	1.58;1.8	3.01	1.07	0.20283	.	.	.	.	.	T	0.26919	0.0659	M	0.64404	1.975	0.09310	N	1	P;B	0.35077	0.483;0.241	B;B	0.30646	0.118;0.118	T	0.17167	-1.0378	9	0.87932	D	0	.	6.425	0.21764	0.0:0.7565:0.0:0.2435	.	2622;1932	A7Y9J9;E9PBJ0	.;.	I	1929;1932;1930;1999	ENSP00000436812:T1929I;ENSP00000415793:T1932I	ENSP00000343037:T1930I	T	+	2	0	MUC5B	1220472	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-2.122000	0.01321	0.064000	0.16427	0.089000	0.15464	ACC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1263896	C	T	1263896	3	4	259	1	0	0	0	0	1	0	0	0	9979	507	18	3	5917	3	MUC5B	11	1263896	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		1263896	133742620	38	18487											
OR52N1	79473	broad.mit.edu	37	chr11	5809803	5809803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatatgaagagagtgtTgggaagggtgctggtgcaca	12	8	15	6	0	0	2	0	1	0	1	0	4	0	3	1	3	2	3	1	3	4	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:5809803T>C	ENST00000317078.1	-	1	243	c.244A>G	c.(244-246)Aac>Gac	p.N82D	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGAGAGTGTTGGGAAGGGTG	0.473																																						uc010qzo.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(244-246)Aac>Gac		Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.							143	131	135					11																	5809803		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809803T>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.244A>G	11.37:g.5809803T>C	ENSP00000322823:p.Asn82Asp					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.N82D	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	0	244	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	82					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.244A>G	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515582	0.44763	.	.	ENSG00000181001	ENST00000317078	T	0.02974	4.09	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.226336	0.30989	N	0.008464	T	0.09642	0.0237	M	0.87617	2.895	0.09310	N	1	P	0.41524	0.753	P	0.46543	0.52	T	0.04961	-1.0915	10	0.87932	D	0	.	10.0686	0.42319	0.0:0.0:0.1686:0.8314	.	82	Q8NH53	O52N1_HUMAN	D	82	ENSP00000322823:N82D	ENSP00000322823:N82D	N	-	1	0	OR52N1	5766379	0.000000	0.05858	0.692000	0.30179	0.802000	0.45316	0.496000	0.22499	2.044000	0.60594	0.496000	0.49642	AAC		0.473	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		C	5809803	T	C	5809803	3	2	259	1	0	0	0	0	1	0	0	0	11127	1812	63	4	721	4	OR52N1	11	5809803	Missense_Mutation	SNP	T	TCGA-76-4927-01A-01D-1486-08	4545907	5809803	129196713	39	18488											
NPAS4	266743	broad.mit.edu	37	chr11	66189954	66189954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggtgacagcatctaCgacatcattgacccagctga	11	7	10	13	1	2	3	1	3	1	0	2	4	2	3	2	1	3	2	2	1	1	2	rs377576767		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:66189954C>T	ENST00000311034.2	+	3	536	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	120	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCATCTACGACATCATTG	0.557																																						uc001ohx.1																			0		p.I119F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(358-360)taC>taT		Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.		C		0,4400		0,0,2200	172	146	155		360	-3.3	1	11		155	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,2,6493	TT,TC,CC		0.0233,0.0,0.0154		120/803	66189954	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66189954C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.360C>T	11.37:g.66189954C>T						NPAS4_uc010rpc.1_5'UTR	p.Y120Y	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			2	536	+			120			PAS 1.		B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.360C>T	CCDS8138.1																																																																																				0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66189954	C	T	66189954	2	4	259	1	0	0	0	0	0	0	0	1	10565	547	19	1		1	NPAS4	11	66189954	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	60380151	66189954	68816562	40	18489											
PRCP	5547	broad.mit.edu	37	chr11	82549612	82549612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcatgactacttctgtgCaggcctaagaagcaaaccaa	14	7	10	10	0	1	2	0	1	1	1	1	2	1	2	2	2	4	3	2	2	5	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:82549612C>T	ENST00000313010.3	-	8	1285	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PRCP_ENST00000535099.1_Missense_Mutation_p.C259Y|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.C385Y	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	364					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACTTCTGTGCAGGCCTAAGA	0.378																																						uc001ozs.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1090-1092)tGc>tAc		Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.							87	77	81					11																	82549612		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549612C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1091G>A	11.37:g.82549612C>T	ENSP00000317362:p.Cys364Tyr					PRCP_uc001ozr.3_Missense_Mutation_p.C385Y	p.C364Y	NM_005040	NP_005031	P42785	PCP_HUMAN			7	1204	-			364					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1091G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646460	0.87958	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.56941	0.43;0.43;0.43	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87804	0.2627	9	.	.	.	-21.3631	20.6208	0.99490	0.0:1.0:0.0:0.0	.	364;385	P42785;A8MU24	PCP_HUMAN;.	Y	364;385;259	ENSP00000317362:C364Y;ENSP00000377055:C385Y;ENSP00000442077:C259Y	.	C	-	2	0	PRCP	82227260	1.000000	0.71417	0.982000	0.44146	0.884000	0.51177	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	TGC		0.378	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		T	82549612	C	T	82549612	3	4	259	1	0	0	0	0	1	0	0	0	12449	710	25	3	407	3	PRCP	11	82549612	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	16359658	82549612	52456904	41	18490											
KITLG	4254	broad.mit.edu	37	chr12	88939597	88939597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccttcagttttgacgagagGattaaataggagcagctgaa	13	10	11	7	1	1	3	1	2	0	1	1	6	1	5	1	2	2	3	1	2	4	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:88939597G>C	ENST00000228280.5	-	2	243	c.61C>G	c.(61-63)Cct>Gct	p.P21A	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000347404.5_Missense_Mutation_p.P21A	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	21					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTGACGAGAGGATTAAATAGG	0.363									Testicular Cancer, Familial Clustering of																													uc001tav.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						c.(61-63)Cct>Gct		Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.							87	82	84					12																	88939597		2203	4300	6503	SO:0001583	missense	4254	Testicular Cancer, Familial Clustering of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88939597G>C	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.61C>G	12.37:g.88939597G>C	ENSP00000228280:p.Pro21Ala					KITLG_uc001taw.3_Missense_Mutation_p.P21A	p.P21A	NM_000899	NP_000890	P21583	SCF_HUMAN			1	256	-			21					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.61C>G	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796672	0.70567	.	.	ENSG00000049130	ENST00000228280;ENST00000347404	T;T	0.73575	-0.76;-0.76	5.66	5.66	0.87406	.	0.246950	0.41938	D	0.000795	T	0.77805	0.4185	L	0.59436	1.845	0.42127	D	0.991458	P;P	0.49559	0.925;0.892	B;P	0.48488	0.443;0.579	T	0.80146	-0.1504	10	0.66056	D	0.02	-1.119	17.0395	0.86484	0.0:0.0:1.0:0.0	.	21;21	P21583-2;P21583	.;SCF_HUMAN	A	21	ENSP00000228280:P21A;ENSP00000054216:P21A	ENSP00000228280:P21A	P	-	1	0	KITLG	87463728	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.958000	0.56737	2.832000	0.97577	0.655000	0.94253	CCT		0.363	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		C	88939597	G	C	88939597	3	2	259	1	0	0	0	0	1	0	0	0	8330	1174	41	5	792	5	KITLG	12	88939597	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		88939597	44912298	42	18491											
TXNRD1	7296	broad.mit.edu	37	chr12	104721416	104721416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaggcaggaagattgctGgctcagaggctctatgcagg	10	8	14	9	0	2	2	1	0	1	2	3	3	3	3	1	5	2	5	1	5	2	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:104721416G>A	ENST00000529546.1	+	10	1170	c.945G>A	c.(943-945)ctG>ctA	p.L315L	TXNRD1_ENST00000354940.6_Silent_p.L353L|TXNRD1_ENST00000525566.1_Silent_p.L503L|TXNRD1_ENST00000524698.1_Silent_p.L353L|TXNRD1_ENST00000378070.4_Silent_p.L452L|TXNRD1_ENST00000388854.3_Silent_p.L405L|TXNRD1_ENST00000427956.1_Silent_p.L468L|TXNRD1_ENST00000542918.1_Silent_p.L403L|TXNRD1_ENST00000540716.1_Silent_p.L315L|TXNRD1_ENST00000503506.2_Silent_p.L353L|TXNRD1_ENST00000429002.2_Silent_p.L503L|TXNRD1_ENST00000526691.1_Silent_p.L405L|TXNRD1_ENST00000397736.2_Silent_p.L397L|TXNRD1_ENST00000526390.1_Silent_p.L397L|TXNRD1_ENST00000526950.1_Silent_p.L422L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	503					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GAAGATTGCTGGCTCAGAGGC	0.473																																					Ovarian(139;555 1836 9186 9946 10884)	uc021rcx.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1507-1509)ctG>ctA		Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.							92	91	91					12																	104721416		1999	4183	6182	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104721416G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.945G>A	12.37:g.104721416G>A						TXNRD1_uc021rcy.1_Silent_p.L405L|TXNRD1_uc021rcz.1_Silent_p.L353L|TXNRD1_uc021rda.1_Silent_p.L353L|TXNRD1_uc021rdb.1_Silent_p.L353L|TXNRD1_uc010swp.2_Silent_p.L315L|TXNRD1_uc010swq.2_Silent_p.L403L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.L419L	p.L503L	NM_001093771		Q16881	TRXR1_HUMAN			12	1531	+			503					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.1509G>A	CCDS58274.1																																																																																				0.473	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		A	104721416	G	A	104721416	2	1	259	1	0	0	0	0	0	0	0	1	16804	1335	47	3		3	TXNRD1	12	104721416	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	15781819	104721416	29130479	43	18492											
SCFD1	23256	broad.mit.edu	37	chr14	31142541	31142541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatgaggtcaaacgactTaaaagcattatggtaagatt	17	10	10	4	1	1	3	1	1	0	2	1	5	1	3	0	2	2	2	0	2	6	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:31142541T>C	ENST00000458591.2	+	12	1301	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	SCFD1_ENST00000541123.1_Silent_p.L173L|SCFD1_ENST00000396629.2_Silent_p.L266L|SCFD1_ENST00000544052.2_Silent_p.L291L|SCFD1_ENST00000421551.3_Silent_p.L299L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	358					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCAAACGACTTAAAAGCATTA	0.338																																						uc001wqm.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1072-1074)ctT>ctC		Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.							79	74	76					14																	31142541		2203	4300	6503	SO:0001819	synonymous_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31142541T>C	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1074T>C	14.37:g.31142541T>C						SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L	p.L358L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	11	1098	+	Hepatocellular(127;0.0877)		358					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1074T>C	CCDS9639.1																																																																																				0.338	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		C	31142541	T	C	31142541	2	2	259	1	0	0	0	0	0	0	0	1	13889	1741	61	4		4	SCFD1	14	31142541	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08		31142541	76206999	44	18493											
ESR2	2100	broad.mit.edu	37	chr14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaaggtgtgttctagcGatcttgcttcacaccaggga	9	11	12	9	1	3	0	1	0	2	0	3	2	3	1	1	3	2	3	1	3	2	5	rs141516067	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:64749369G>A	ENST00000341099.4	-	2	752	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_ENST00000353772.3_Missense_Mutation_p.S112L|ESR2_ENST00000542956.1_Missense_Mutation_p.S112L|ESR2_ENST00000557772.1_Missense_Mutation_p.S112L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.S112L|ESR2_ENST00000358599.5_Missense_Mutation_p.S112L|ESR2_ENST00000553796.1_Missense_Mutation_p.S112L|ESR2_ENST00000357782.2_Missense_Mutation_p.S112L|ESR2_ENST00000554572.1_Missense_Mutation_p.S112L|ESR2_ENST00000555278.1_Missense_Mutation_p.S112L	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	112	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448													G|||	8	0.00159744	0	0	5008	,	,		22034	0		0	False		,,,				2504	0.0082					uc001xha.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(334-336)tCg>tTg		Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						95	91	92					14																	64749369		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64749369G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.335C>T	14.37:g.64749369G>A	ENSP00000343925:p.Ser112Leu					ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L	p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	1	803	-			112			Modulating.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.335C>T	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926040	0.52759	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.71;-2.66;-2.64;-2.64;-2.64;-2.72;-2.71;-2.72;-2.71;-2.55;-2.27	5.56	4.66	0.58398	Estrogen receptor beta, N-terminal (1);	0.864375	0.10220	N	0.701042	D	0.86331	0.5907	L	0.48642	1.525	0.36663	D	0.878047	P;B;B;B;B	0.44946	0.846;0.058;0.119;0.102;0.232	B;B;B;B;B	0.33690	0.168;0.021;0.043;0.021;0.072	D	0.87338	0.2329	10	0.54805	T	0.06	.	13.8321	0.63386	0.0733:0.0:0.9267:0.0	.	112;112;112;112;112	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	L	112	ENSP00000452485:S112L;ENSP00000441792:S112L;ENSP00000450699:S112L;ENSP00000335551:S112L;ENSP00000351412:S112L;ENSP00000450488:S112L;ENSP00000452426:S112L;ENSP00000350427:S112L;ENSP00000451582:S112L;ENSP00000343925:S112L;ENSP00000267525:S112L	ENSP00000267525:S112L	S	-	2	0	ESR2	63819122	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	3.776000	0.55356	2.616000	0.88540	0.563000	0.77884	TCG		0.448	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			A	64749369	G	A	64749369	3	1	259	1	0	0	0	0	1	0	0	0	5257	1059	37	2	1375	2	ESR2	14	64749369	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	33606828	64749369	42600171	45	18494											
PAPLN	89932	broad.mit.edu	37	chr14	73729314	73729314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcagtcctgcaggCgagcaggaacccagccagca	10	2	15	14	2	0	0	0	0	0	0	1	2	1	1	3	4	6	5	3	4	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:73729314C>T	ENST00000554301.1	+	18	2665	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PAPLN_ENST00000340738.5_Silent_p.G807G|PAPLN_ENST00000427855.1_Silent_p.G834G|PAPLN_ENST00000555445.1_Silent_p.G818G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Silent_p.G834G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	834						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCCTGCAGGCGAGCAGGAAC	0.682																																						uc010ttx.2																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2500-2502)ggC>ggT		Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.							14	13	13					14																	73729314		2160	4245	6405	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73729314C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2502C>T	14.37:g.73729314C>T						PAPLN_uc001xnw.4_Silent_p.G807G|PAPLN_uc010arl.3_Intron|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.G818G|PAPLN_uc010arm.3_Missense_Mutation_p.A26V|PAPLN_uc010arn.3_Silent_p.G34G	p.G834G	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	17	2665	+			834					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.2502C>T																																																																																					0.682	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		T	73729314	C	T	73729314	2	4	259	1	0	0	0	0	0	0	0	1	11428	755	27	1		1	PAPLN	14	73729314	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	8979945	73729314	33620226	46	18495											
GPR68	8111	broad.mit.edu	37	chr14	91700886	91700886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgctcaaagcacacgCggtgctggttctcgtcctcg	6	10	13	12	4	2	0	1	0	1	0	5	0	3	0	1	3	3	5	1	3	2	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:91700886C>T	ENST00000531499.2	-	2	848	c.509G>A	c.(508-510)cGc>cAc	p.R170H	GPR68_ENST00000535815.1_Missense_Mutation_p.R170H|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000238699.3_Missense_Mutation_p.R180H			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	170					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAAGCACACGCGGTGCTGGTT	0.627																																						uc021ryk.1																			0		p.E170K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(508-510)cGc>cAc		Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.							84	60	68					14																	91700886		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700886C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.509G>A	14.37:g.91700886C>T	ENSP00000434045:p.Arg170His					GPR68_uc001xzg.3_Missense_Mutation_p.R170H|GPR68_uc001xzh.3_Missense_Mutation_p.R170H	p.R170H	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	0	509	-		all_cancers(154;0.0555)	170					Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.509G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166094	0.57476	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.12	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.387540	0.25327	N	0.031464	T	0.29061	0.0722	N	0.16478	0.41	0.29833	N	0.829898	D;D	0.56521	0.976;0.976	P;P	0.51055	0.657;0.657	T	0.07520	-1.0768	10	0.13470	T	0.59	.	12.0805	0.53667	0.4793:0.5207:0.0:0.0	.	170;170	Q6NWR5;Q15743	.;OGR1_HUMAN	H	170;180;170;170	ENSP00000434045:R170H;ENSP00000238699:R180H;ENSP00000440797:R170H;ENSP00000432740:R170H	ENSP00000238699:R180H	R	-	2	0	GPR68	90770639	0.549000	0.26481	0.992000	0.48379	0.874000	0.50279	1.031000	0.30165	1.100000	0.41517	0.555000	0.69702	CGC		0.627	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			T	91700886	C	T	91700886	3	4	259	1	0	0	0	0	1	0	0	0	6707	768	27	1	592	1	GPR68	14	91700886	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	17971572	91700886	15648654	47	18496											
BDKRB1	623	broad.mit.edu	37	chr14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccggaggcagcagcGgcggaggcaggcccgggtca	7	1	20	13	4	1	0	1	0	0	0	1	2	1	2	3	8	3	3	3	8	0	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:96730468G>A	ENST00000216629.6	+	3	1055	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.R150Q	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	150					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632																																						uc021sbj.1																			0		p.R150R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(448-450)cGg>cAg		Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.							42	44	43					14																	96730468		2203	4299	6502	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730468G>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.449G>A	14.37:g.96730468G>A	ENSP00000216629:p.Arg150Gln					BDKRB1_uc001yfh.3_Missense_Mutation_p.R150Q	p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	0	449	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	150					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.449G>A	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012006	0.75046	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.38077	1.16;1.16	5.03	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.135994	0.49305	U	0.000154	T	0.48822	0.1521	L	0.60067	1.865	0.09310	N	1	D;D	0.61080	0.987;0.989	P;P	0.59643	0.742;0.861	T	0.37197	-0.9716	10	0.49607	T	0.09	-16.3202	10.5854	0.45280	0.0898:0.0:0.9102:0.0	.	150;150	G3V4Y2;P46663	.;BKRB1_HUMAN	Q	150	ENSP00000216629:R150Q;ENSP00000452064:R150Q	ENSP00000216629:R150Q	R	+	2	0	BDKRB1	95800221	0.542000	0.26426	0.565000	0.28409	0.838000	0.47535	1.868000	0.39509	1.107000	0.41642	0.455000	0.32223	CGG		0.632	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			A	96730468	G	A	96730468	3	1	259	1	0	0	0	0	1	0	0	0	1392	1116	39	2	451	2	BDKRB1	14	96730468	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	5029582	96730468	10619072	48	18497											
MKRN3	7681	broad.mit.edu	37	chr15	23811282	23811282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggagaactgtcgctattCgcacgacctttctggtcgga	7	10	14	10	4	1	1	0	0	1	1	4	4	1	2	1	4	1	2	1	4	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr15:23811282C>T	ENST00000314520.3	+	1	829	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	118					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCGCTATTCGCACGACCTT	0.597																																						uc001ywh.4																			0		p.S118S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(352-354)tCg>tTg		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							59	60	60					15																	23811282		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811282C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.353C>T	15.37:g.23811282C>T	ENSP00000313881:p.Ser118Leu					MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S118L	p.S118L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	829	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	118						Missense_Mutation	SNP	ENST00000314520.3	37	c.353C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125974	0.77436	.	.	ENSG00000179455	ENST00000314520	T	0.38887	1.11	3.94	3.94	0.45596	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51973	-0.8637	10	0.42905	T	0.14	.	11.7999	0.52120	0.0:1.0:0.0:0.0	.	118	Q13064	MKRN3_HUMAN	L	118	ENSP00000313881:S118L	ENSP00000313881:S118L	S	+	2	0	MKRN3	21362375	1.000000	0.71417	0.900000	0.35374	0.507000	0.33981	5.807000	0.69157	2.498000	0.84270	0.563000	0.77884	TCG		0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811282	C	T	23811282	3	4	259	1	0	0	0	0	1	0	0	0	9608	893	31	2	355	2	MKRN3	15	23811282	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		23811282	78720110	49	18498											
ANKS3	124401	broad.mit.edu	37	chr16	4764084	4764084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggctcttgggcagagagGgcgagtaagtgtccatcaag	11	7	16	7	1	2	2	1	0	1	2	3	4	3	2	1	3	0	3	1	3	2	2	rs146798732		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:4764084G>A	ENST00000304283.4	-	7	971	c.677C>T	c.(676-678)cCc>cTc	p.P226L	ANKS3_ENST00000446014.2_Missense_Mutation_p.P97L|ANKS3_ENST00000450067.2_Missense_Mutation_p.P20L|ANKS3_ENST00000585773.1_Missense_Mutation_p.P153L	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	226										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCAGAGAGGGCGAGTAAGT	0.617																																						uc002cxj.2																			0		p.P226P(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(676-678)cCc>cTc		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	153	108	123		356,677	3.8	0.1	16	dbSNP_134	123	0,8600		0,0,4300	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	98,98	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	119/550,226/657	4764084	1,12993	2197	4300	6497	SO:0001583	missense	124401							g.chr16:4764084G>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.677C>T	16.37:g.4764084G>A	ENSP00000304586:p.Pro226Leu					ANKS3_uc002cxi.2_Missense_Mutation_p.P153L|ANKS3_uc021tcj.1_Missense_Mutation_p.P97L|ANKS3_uc021tck.1_Missense_Mutation_p.P119L|ANKS3_uc002cxk.3_Missense_Mutation_p.P97L|ANKS3_uc010uxs.2_Missense_Mutation_p.P153L|ANKS3_uc002cxm.3_Missense_Mutation_p.P20L	p.P226L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			6	972	-			226					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.677C>T	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383014	0.42207	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.19;2.94;0.89	4.74	3.79	0.43588	Ankyrin repeat-containing domain (2);	0.373424	0.27478	N	0.019196	T	0.39860	0.1094	M	0.64997	1.995	0.21020	N	0.999802	B;B	0.18461	0.028;0.002	B;B	0.19946	0.027;0.002	T	0.39099	-0.9630	10	0.56958	D	0.05	-17.9973	10.0462	0.42188	0.0949:0.0:0.9051:0.0	.	20;226	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	L	226;97;20	ENSP00000304586:P226L;ENSP00000406796:P97L;ENSP00000388270:P20L	ENSP00000304586:P226L	P	-	2	0	ANKS3	4704085	0.516000	0.26218	0.058000	0.19502	0.969000	0.65631	2.813000	0.48002	1.228000	0.43614	0.561000	0.74099	CCC		0.617	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		A	4764084	G	A	4764084	3	1	259	1	0	0	0	0	1	0	0	0	690	1232	43	3	1337	3	ANKS3	16	4764084	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		4764084	85590669	50	18499											
HAS3	3038	broad.mit.edu	37	chr16	69148326	69148326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaacgtggagcgggcctgCcagtcctactttggctgtgt	5	12	13	11	2	1	0	1	0	0	0	2	1	2	1	3	3	4	1	3	3	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:69148326C>T	ENST00000306560.1	+	4	975	c.819C>T	c.(817-819)tgC>tgT	p.C273C	HAS3_ENST00000569188.1_Silent_p.C273C|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	273					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGCGGGCCTGCCAGTCCTACT	0.552																																						uc010cfh.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(817-819)tgC>tgT		Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.							130	123	125					16																	69148326		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148326C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.819C>T	16.37:g.69148326C>T						HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Silent_p.C273C	p.C273C	NM_001199280	NP_001186209	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	3	1043	+		Ovarian(137;0.101)	273					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.819C>T	CCDS10871.1																																																																																				0.552	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		T	69148326	C	T	69148326	2	4	259	1	0	0	0	0	0	0	0	1	6963	747	26	3		3	HAS3	16	69148326	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	64384242	69148326	21206427	51	18500											
KRTAP4-4	84616	broad.mit.edu	37	chr17	39316492	39316492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcacctggacacaCagcagctggggcggcagcag	9	4	15	13	1	0	0	0	0	0	0	0	1	0	1	2	4	4	6	2	4	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:39316492C>G	ENST00000390661.3	-	1	491	c.452G>C	c.(451-453)tGt>tCt	p.C151S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	151	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CCTGGACACACAGCAGCTGGG	0.642																																						uc002hwc.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(451-453)tGt>tCt		Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.							39	46	44					17																	39316492		2196	4298	6494	SO:0001583	missense	84616					keratin filament		g.chr17:39316492C>G	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.452G>C	17.37:g.39316492C>G	ENSP00000375076:p.Cys151Ser						p.C151S	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		0	492	-		Breast(137;0.000496)	151			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.452G>C	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.687412	0.29962	.	.	ENSG00000171396	ENST00000390661	T	0.00609	6.24	4.8	4.8	0.61643	.	11.342700	0.01564	U	0.020227	T	0.02727	0.0082	M	0.89715	3.055	0.28816	N	0.897949	P	0.43788	0.817	P	0.47705	0.555	T	0.64101	-0.6486	10	0.15066	T	0.55	.	15.3581	0.74443	0.0:1.0:0.0:0.0	.	151	Q9BYR3	KRA44_HUMAN	S	151	ENSP00000375076:C151S	ENSP00000375076:C151S	C	-	2	0	KRTAP4-4	36570018	0.123000	0.22298	0.911000	0.35937	0.742000	0.42306	0.298000	0.19120	2.216000	0.71823	0.484000	0.47621	TGT		0.642	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			G	39316492	C	G	39316492	3	3	259	1	0	0	0	0	1	0	0	0	8553	478	17	5	52	5	KRTAP4-4	17	39316492	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		39316492	41878718	52	18501											
BRCA1	672	broad.mit.edu	37	chr17	41244612	41244612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaagtggtggtataCgatatgggttttgtaaaagt	13	13	14	1	1	0	0	0	0	0	0	0	2	0	1	0	4	1	3	0	4	7	6	rs80356985		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:41244612C>T	ENST00000357654.3	-	10	3054	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R683H|BRCA1_ENST00000346315.3_Missense_Mutation_p.R979H|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R932H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R979H|BRCA1_ENST00000471181.2_Missense_Mutation_p.R979H|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	979					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGTGGTATACGATATGGGTT	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(2935-2937)cGt>cAt	Homologous recombination	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.							93	94	94					17																	41244612		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244612C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2936G>A	17.37:g.41244612C>T	ENSP00000350283:p.Arg979His	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R908H|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R932H|BRCA1_uc002ict.3_Missense_Mutation_p.R979H|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R979H|BRCA1_uc002ide.1_Missense_Mutation_p.R810H|BRCA1_uc010cyy.1_Missense_Mutation_p.R979H|BRCA1_uc010whs.1_Missense_Mutation_p.R979H|BRCA1_uc010cyz.2_Missense_Mutation_p.R932H|BRCA1_uc010cza.2_Missense_Mutation_p.R953H|BRCA1_uc010wht.1_Missense_Mutation_p.R683H	p.R979H	NM_007294	NP_009228	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3168	-		Breast(137;0.000717)	979					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2936G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.529481	0.00147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.89	1.06	0.20224	.	1.074330	0.07211	N	0.859222	T	0.28333	0.0700	N	0.00052	-2.395	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.43458	-0.9390	10	0.02654	T	1	.	0.6089	0.00757	0.3511:0.1585:0.1216:0.3688	.	979;938;979;979;979;979	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	H	979;979;979;979;683;979;932	ENSP00000350283:R979H;ENSP00000326002:R979H;ENSP00000246907:R979H;ENSP00000310938:R683H;ENSP00000418960:R979H;ENSP00000418775:R932H	ENSP00000310938:R683H	R	-	2	0	BRCA1	38498138	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.333000	0.07894	-0.329000	0.08527	-0.269000	0.10298	CGT		0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		T	41244612	C	T	41244612	3	4	259	1	0	0	0	0	1	0	0	0	1498	536	19	1	2781	1	BRCA1	17	41244612	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	1928120	41244612	39950598	53	18502											
ITGA2B	3674	broad.mit.edu	37	chr17	42457990	42457990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacagccacctggttggCcccgtaagctcccacgatca	9	7	9	16	2	1	0	1	0	0	0	2	1	2	0	5	2	3	4	5	2	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:42457990C>T	ENST00000262407.5	-	14	1448	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.A473T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	473					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A473T(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	ACCTGGTTGGCCCCGTAAGCT	0.592																																						uc002igt.1																			1	Substitution - Missense(1)	p.A473T(2)|p.G472R(1)	kidney(1)	biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1417-1419)Gcc>Acc		Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	Tirofiban(DB00775)						117	108	111					17																	42457990		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457990C>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1417G>A	17.37:g.42457990C>T	ENSP00000262407:p.Ala473Thr					ITGA2B_uc002igu.1_5'UTR	p.A473T	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1449	-		Prostate(33;0.0181)	473					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1417G>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014329	0.54468	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.72282	-0.64;-0.64	5.02	5.02	0.67125	.	0.230278	0.22047	N	0.065367	T	0.74152	0.3679	L	0.52364	1.645	0.80722	D	1	D	0.69078	0.997	P	0.52957	0.714	T	0.71196	-0.4664	10	0.28530	T	0.3	.	17.2798	0.87125	0.0:1.0:0.0:0.0	.	473	P08514	ITA2B_HUMAN	T	473	ENSP00000262407:A473T;ENSP00000340536:A473T	ENSP00000262407:A473T	A	-	1	0	ITGA2B	39813516	0.546000	0.26457	0.226000	0.23910	0.109000	0.19521	4.737000	0.62066	2.613000	0.88420	0.655000	0.94253	GCC		0.592	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42457990	C	T	42457990	3	4	259	1	0	0	0	0	1	0	0	0	7876	739	26	3	1770	3	ITGA2B	17	42457990	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	1213378	42457990	38737220	54	18503											
LRRC30	339291	broad.mit.edu	37	chr18	7231386	7231386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtctcacaaccagctcCgggttctccctcccgaggtg	6	10	9	16	2	3	0	1	0	3	0	7	1	5	0	4	2	2	2	4	2	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr18:7231386C>T	ENST00000383467.2	+	1	264	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAACCAGCTCCGGGTTCTCCC	0.587																																						uc010wzk.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(250-252)Cgg>Tgg		Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.							52	55	54					18																	7231386		1918	4139	6057	SO:0001583	missense	339291							g.chr18:7231386C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.250C>T	18.37:g.7231386C>T	ENSP00000372959:p.Arg84Trp						p.R84W	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			0	250	+			84						Missense_Mutation	SNP	ENST00000383467.2	37	c.250C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063255	0.55432	.	.	ENSG00000206422	ENST00000383467	T	0.09911	2.93	5.65	-0.148	0.13424	.	1.088850	0.06828	N	0.793417	T	0.19604	0.0471	L	0.52266	1.64	0.09310	N	1	D	0.71674	0.998	P	0.54815	0.761	T	0.33904	-0.9850	10	0.66056	D	0.02	.	9.3548	0.38159	0.2153:0.4325:0.3522:0.0	.	84	A6NM36	LRC30_HUMAN	W	84	ENSP00000372959:R84W	ENSP00000372959:R84W	R	+	1	2	LRRC30	7221386	0.000000	0.05858	0.043000	0.18650	0.992000	0.81027	-0.360000	0.07622	0.046000	0.15833	0.650000	0.86243	CGG		0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		T	7231386	C	T	7231386	3	4	259	1	0	0	0	0	1	0	0	0	8985	643	23	2	252	2	LRRC30	18	7231386	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		7231386	70845862	55	18504											
KHSRP	8570	broad.mit.edu	37	chr19	6420483	6420483	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttctgtcattgaagtcCtgtaaagagacacgccaaag	13	10	8	10	1	3	2	1	1	2	1	4	3	4	2	2	0	0	1	2	0	4	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:6420483C>T	ENST00000398148.3	-	5	518		c.e5-1			NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CATTGAAGTCCTGTAAAGAGA	0.567																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.4																			1	Unknown(1)	p.?(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.e5-1		Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.							59	64	62					19																	6420483		2054	4204	6258	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6420483C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.426-1G>A	19.37:g.6420483C>T							p.R142_splice	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			5	536	-			142			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.426_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902609	0.33628	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7785	0.69749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6371483	1.000000	0.71417	0.992000	0.48379	0.304000	0.27724	3.682000	0.54656	2.446000	0.82766	0.563000	0.77884	.		0.567	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron	T	6420483	C	T	6420483	5	4	259	1	0	0	0	0	0	0	1	0	8151	695	24	3	1774	3	KHSRP	19	6420483	Splice_Site	SNP	C	TCGA-76-4927-01A-01D-1486-08		6420483	52708500	56	18505											
ZNF136	7695	broad.mit.edu	37	chr19	12298584	12298584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttatctcaactcctttcGaacacatgaaatgattcaca	14	12	4	11	1	2	2	2	2	1	0	5	3	3	2	1	0	2	1	1	0	4	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:12298584G>A	ENST00000343979.4	+	4	1531	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.R398Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	464					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACTCCTTTCGAACACATGAA	0.393																																						uc002mti.3																			0		p.R464R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1390-1392)cGa>cAa		Homo sapiens zinc finger protein 136 (ZNF136), mRNA.							74	70	71					19																	12298584		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298584G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1391G>A	19.37:g.12298584G>A	ENSP00000344162:p.Arg464Gln					ZNF136_uc010xmh.2_Missense_Mutation_p.R398Q	p.R464Q	NM_003437	NP_003428	P52737	ZN136_HUMAN			3	1538	+			464						Missense_Mutation	SNP	ENST00000343979.4	37	c.1391G>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112660	0.06881	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.35789	1.29;1.29	1.4	-0.838	0.10762	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.04705	-0.18	0.09310	N	1	P	0.43938	0.822	B	0.28916	0.096	T	0.14227	-1.0480	8	.	.	.	.	0.2395	0.00190	0.322:0.2024:0.2717:0.2039	.	464	P52737	ZN136_HUMAN	Q	464;398	ENSP00000344162:R464Q;ENSP00000381617:R398Q	.	R	+	2	0	ZNF136	12159584	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-5.663000	0.00106	-0.210000	0.10140	0.655000	0.94253	CGA		0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		A	12298584	G	A	12298584	3	1	259	1	0	0	0	0	1	0	0	0	17723	1058	37	2	1405	2	ZNF136	19	12298584	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	5878101	12298584	46830399	57	18506											
RASAL3	64926	broad.mit.edu	37	chr19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttggagagtcgaaggCgactggtccgtgactccttg	6	9	16	10	3	0	2	0	1	0	1	3	5	2	2	3	4	0	0	3	4	1	2	rs201278861		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:15574925C>T	ENST00000343625.7	-	2	330	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	82					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672																																						uc002nbe.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(244-246)cGc>cAc		Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.							19	22	21					19																	15574925		2001	4174	6175	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574925C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.245G>A	19.37:g.15574925C>T	ENSP00000341905:p.Arg82His						p.R82H	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			1	331	-			82					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.245G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810290	0.32053	.	.	ENSG00000105122	ENST00000343625	T	0.26810	1.71	4.11	3.06	0.35304	.	0.000000	0.32548	U	0.005960	T	0.24044	0.0582	M	0.62723	1.935	0.33498	D	0.589532	B	0.18310	0.027	B	0.12156	0.007	T	0.21280	-1.0250	10	0.38643	T	0.18	.	8.428	0.32739	0.0:0.8856:0.0:0.1144	.	82	Q86YV0	RASL3_HUMAN	H	82	ENSP00000341905:R82H	ENSP00000341905:R82H	R	-	2	0	RASAL3	15435925	0.995000	0.38212	0.916000	0.36221	0.339000	0.28857	2.074000	0.41529	1.029000	0.39812	0.462000	0.41574	CGC		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		T	15574925	C	T	15574925	3	4	259	1	0	0	0	0	1	0	0	0	13065	768	27	1	2858	1	RASAL3	19	15574925	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	3276341	15574925	43554058	58	18507											
USHBP1	83878	broad.mit.edu	37	chr19	17375061	17375061	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgacacttacgggtggAgcatgcctccctcgccggct	6	8	14	13	3	0	1	0	1	0	0	2	2	1	2	3	4	3	2	3	4	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:17375061A>C	ENST00000431146.2	-	2	149	c.5T>G	c.(4-6)cTc>cGc	p.L2R	USHBP1_ENST00000252597.3_Silent_p.A16A|USHBP1_ENST00000598570.1_5'UTR					Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTACGGGTGGAGCATGCCTCC	0.647																																						uc002nfs.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(46-48)gcT>gcG		Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.							58	49	52					19																	17375061		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17375061A>C	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000431146.2:c.5T>G	19.37:g.17375061A>C	ENSP00000407902:p.Leu2Arg					USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	p.A16A	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			1	161	-			16						Silent	SNP	ENST00000431146.2	37	c.48T>G		.	.	.	.	.	.	.	.	.	.	A	11.69	1.714570	0.30413	.	.	ENSG00000130307	ENST00000431146	T	0.20069	2.1	3.75	1.45	0.22620	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27502	-1.0072	8	0.87932	D	0	2.4843	4.4282	0.11515	0.598:0.2047:0.0:0.1974	.	2	B4DUE8	.	R	2	ENSP00000407902:L2R	ENSP00000407902:L2R	L	-	2	0	USHBP1	17236061	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.638000	0.05452	0.089000	0.17243	0.379000	0.24179	CTC		0.647	USHBP1-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463329.1	NM_031941		C	17375061	A	C	17375061	3	2	259	1	0	0	0	0	1	0	0	0	17034	291	11	5	2111	5	USHBP1	19	17375061	Missense_Mutation	SNP	A	TCGA-76-4927-01A-01D-1486-08	1800136	17375061	41753922	59	18508											
MAG	4099	broad.mit.edu	37	chr19	35786738	35786738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttccagggccgcagccGcctcctgggggacctgggcc	4	5	16	16	2	0	0	0	0	0	0	2	2	2	1	7	4	2	2	7	4	0	1	rs201990546		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:35786738G>A	ENST00000392213.3	+	4	428	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MAG_ENST00000361922.4_Missense_Mutation_p.R90H|MAG_ENST00000537831.2_Missense_Mutation_p.R65H|MAG_ENST00000597035.1_Intron	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	90	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.R90H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCGCAGCCGCCTCCTGGGG	0.652																																						uc002nyy.2																			2	Substitution - Missense(2)	p.R90H(3)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(268-270)cGc>cAc		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	82	94	90		194,269,269	5.3	1	19		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	65/602,90/627,90/583	35786738	1,13005	2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786738G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.269G>A	19.37:g.35786738G>A	ENSP00000376048:p.Arg90His					MAG_uc002nyx.2_Missense_Mutation_p.R90H|MAG_uc010eds.2_Missense_Mutation_p.R65H|MAG_uc002nyz.2_Missense_Mutation_p.R90H	p.R90H	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	467	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	90			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.269G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732752	0.89482	0.0	1.16E-4	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.45668	0.89;0.89;0.89	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.238219	0.41605	D	0.000855	T	0.32133	0.0819	N	0.11201	0.11	0.35842	D	0.826114	D;D;D	0.76494	0.996;0.999;0.998	P;P;P	0.57101	0.662;0.813;0.813	T	0.18304	-1.0341	10	0.06891	T	0.86	.	10.3226	0.43775	0.0907:0.0:0.9093:0.0	.	127;90;90	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	H	127;90;90;65	ENSP00000355234:R90H;ENSP00000376048:R90H;ENSP00000440695:R65H	ENSP00000262624:R127H	R	+	2	0	MAG	40478578	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.042000	0.49815	2.650000	0.89964	0.442000	0.29010	CGC		0.652	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35786738	G	A	35786738	3	1	259	1	0	0	0	0	1	0	0	0	9162	1087	38	1	275	1	MAG	19	35786738	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	18411677	35786738	23342245	60	18509											
PLD3	23646	broad.mit.edu	37	chr19	40872766	40872766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctatgggaatacggCgacttgcatctctttgggcc	6	14	11	10	2	2	0	0	0	2	0	3	2	2	1	1	3	2	2	1	3	3	5	rs375652785		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:40872766C>T	ENST00000409587.1	+	5	586	c.189C>T	c.(187-189)ggC>ggT	p.G63G	PLD3_ENST00000409281.1_Silent_p.G63G|PLD3_ENST00000356508.5_Silent_p.G63G|PLD3_ENST00000409419.1_Silent_p.G63G|PLD3_ENST00000409735.4_Silent_p.G63G			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	63					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGGAATACGGCGACTTGCATC	0.627																																						uc002onm.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(187-189)ggC>ggT		Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	73	69	71		189,189	-5.5	0.9	19		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLD3	NM_001031696.2,NM_012268.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	63/491,63/491	40872766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872766C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.189C>T	19.37:g.40872766C>T						PLD3_uc021uus.1_Silent_p.G63G|PLD3_uc002onj.4_Silent_p.G63G|PLD3_uc002onn.3_Silent_p.G63G|PLD3_uc002ono.3_Nonsense_Mutation_p.R93*	p.G63G	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		4	587	+			63					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.189C>T	CCDS33027.1																																																																																				0.627	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		T	40872766	C	T	40872766	2	4	259	1	0	0	0	0	0	0	0	1	12047	755	27	1		1	PLD3	19	40872766	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	5086028	40872766	18256217	61	18510											
PSG1	5669	broad.mit.edu	37	chr19	43372476	43372476	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacggtaataggtgaaTgaagggtaaattctggggag	13	9	15	4	1	1	3	0	3	1	0	1	4	1	4	1	5	1	2	1	5	7	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:43372476T>A	ENST00000436291.2	-	5	1136	c.1020A>T	c.(1018-1020)tcA>tcT	p.S340S	PSG1_ENST00000595124.1_Silent_p.S247S|PSG1_ENST00000244296.2_Silent_p.S340S|PSG1_ENST00000312439.6_Silent_p.S340S|PSG1_ENST00000595356.1_Silent_p.S340S|PSG1_ENST00000403380.3_Silent_p.S247S	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	340	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AATAGGTGAATGAAGGGTAAA	0.468																																						uc002ovd.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1018-1020)tcA>tcT		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							50	58	56					19																	43372476		2198	4278	6476	SO:0001819	synonymous_variant	5669				defense response|female pregnancy	extracellular region		g.chr19:43372476T>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1020A>T	19.37:g.43372476T>A						PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.S247S|PSG3_uc002ova.2_Silent_p.S247S|PSG3_uc002ouz.2_Silent_p.S340S|PSG3_uc002ovb.3_Silent_p.S340S	p.S340S	NM_006905	NP_008836	Q16557	PSG3_HUMAN			4	1158	-		Prostate(69;0.00682)	340	Missing (in Ref. 9).		Ig-like C2-type 3.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.1020A>T	CCDS54275.1																																																																																				0.468	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			A	43372476	T	A	43372476	2	1	259	1	0	0	0	0	0	0	0	1	12653	1451	51	5		5	PSG1	19	43372476	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08	2499710	43372476	15756507	62	18511											
NLRP5	126206	broad.mit.edu	37	chr19	56538863	56538863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcaagtcagaggtcGtgtctccccgttacctgtta	9	11	10	11	2	3	2	2	0	1	2	5	2	3	2	3	1	2	3	3	1	4	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:56538863G>A	ENST00000390649.3	+	7	1264	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	422	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGAGGTCGTGTCTCCCCG	0.547																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1264-1266)Gtg>Atg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							48	50	50					19																	56538863		2085	4205	6290	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538863G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1264G>A	19.37:g.56538863G>A	ENSP00000375063:p.Val422Met					NLRP5_uc002qmi.3_Missense_Mutation_p.V403M	p.V422M	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	1264	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	422			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1264G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036335	0.19669	.	.	ENSG00000171487	ENST00000390649	T	0.79033	-1.23	3.35	-6.28	0.02020	.	2.215120	0.02713	N	0.113073	T	0.62441	0.2428	N	0.20986	0.625	0.09310	N	1	P	0.44478	0.836	B	0.40477	0.33	T	0.61549	-0.7040	10	0.46703	T	0.11	.	7.4213	0.27073	0.2261:0.5853:0.1886:0.0	.	422	P59047	NALP5_HUMAN	M	422	ENSP00000375063:V422M	ENSP00000375063:V422M	V	+	1	0	NLRP5	61230675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.719000	0.01873	-1.046000	0.03246	-0.165000	0.13383	GTG		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56538863	G	A	56538863	3	1	259	1	0	0	0	0	1	0	0	0	10480	1145	40	1	1290	1	NLRP5	19	56538863	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	13166387	56538863	2590120	63	18512											
ZNF470	388566	broad.mit.edu	37	chr19	57088760	57088760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcagtgtaataaagcattCagccagcttgcacaccttgc	13	9	8	11	0	1	0	1	0	0	0	1	0	1	0	2	0	6	5	2	0	4	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:57088760C>T	ENST00000330619.8	+	6	1649	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_ENST00000391709.3_Silent_p.F321F|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448																																						uc002qnl.4																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(961-963)ttC>ttT		Homo sapiens zinc finger protein 470 (ZNF470), mRNA.							72	68	69					19																	57088760		2203	4300	6503	SO:0001819	synonymous_variant	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088760C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.963C>T	19.37:g.57088760C>T						ZNF470_uc010etn.3_Intron	p.F321F	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	5	1639	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	321					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	37	c.963C>T	CCDS33122.1																																																																																				0.448	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		T	57088760	C	T	57088760	2	4	259	1	0	0	0	0	0	0	0	1	17926	825	29	3		3	ZNF470	19	57088760	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	549897	57088760	2040223	64	18513											
GGTLC1	92086	broad.mit.edu	37	chr20	23966561	23966561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccatccggacctggcCgtcctggcccaccatgatcg	7	6	9	19	3	0	1	0	1	0	0	3	2	2	2	8	3	0	0	8	3	0	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:23966561C>T	ENST00000335694.4	-	4	559	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	GGTLC1_ENST00000286890.4_Missense_Mutation_p.G119S|GGTLC1_ENST00000278765.4_Missense_Mutation_p.G119S	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	119					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGACCTGGCCGTCCTGGCCC	0.662																																						uc002wts.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(355-357)Ggc>Agc		Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.							77	87	84					20																	23966561		1511	2707	4218	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966561C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.355G>A	20.37:g.23966561C>T	ENSP00000337587:p.Gly119Ser					GGTLC1_uc002wtu.3_Missense_Mutation_p.G119S	p.G119S	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			3	488	-			119					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.355G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.818661	0.50633	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.10763	2.84;2.84;2.84	0.844	-0.674	0.11369	.	0.369500	0.27236	N	0.020288	T	0.18045	0.0433	M	0.73598	2.24	0.23440	N	0.997678	D	0.67145	0.996	P	0.55667	0.781	T	0.06445	-1.0826	10	0.62326	D	0.03	-17.3328	3.4434	0.07472	0.0:0.3417:0.0:0.6583	.	119	Q9BX51	GGTL1_HUMAN	S	119	ENSP00000286890:G119S;ENSP00000278765:G119S;ENSP00000337587:G119S	ENSP00000278765:G119S	G	-	1	0	GGTLC1	23914561	0.996000	0.38824	0.165000	0.22776	0.187000	0.23431	1.299000	0.33424	0.088000	0.17205	0.089000	0.15464	GGC		0.662	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		T	23966561	C	T	23966561	3	4	259	1	0	0	0	0	1	0	0	0	6365	652	23	2	334	2	GGTLC1	20	23966561	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		23966561	39058959	65	18514											
CDH22	64405	broad.mit.edu	37	chr20	44841697	44841697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgaacacatcgccGccgctgctgctctcgtcctt	5	11	9	16	4	1	2	0	2	1	0	4	2	2	2	4	0	3	3	4	0	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:44841697G>A	ENST00000372262.3	-	5	1369	c.969C>T	c.(967-969)ggC>ggT	p.G323G	CDH22_ENST00000537909.1_Silent_p.G323G|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACACATCGCCGCCGCTGCTGC	0.592																																						uc002xrm.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(967-969)ggC>ggT		Homo sapiens cadherin 22, type 2 (CDH22), mRNA.							163	99	121					20																	44841697		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44841697G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.969C>T	20.37:g.44841697G>A						CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.2_Silent_p.G74G	p.G323G	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			4	1368	-		Myeloproliferative disorder(115;0.0122)	323			Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.969C>T	CCDS13395.1																																																																																				0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44841697	G	A	44841697	2	1	259	1	0	0	0	0	0	0	0	1	3107	1074	38	1		1	CDH22	20	44841697	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	20875136	44841697	18183823	66	18515											
PHKA1	5255	broad.mit.edu	37	chrX	71895990	71895990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgtctccacgttcccatAtcccgaagtcctggcataaa	9	12	6	14	2	2	0	0	0	2	0	6	1	5	0	4	1	0	2	4	1	4	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:71895990A>G	ENST00000373542.4	-	6	707	c.548T>C	c.(547-549)aTa>aCa	p.I183T	PHKA1_ENST00000339490.3_Missense_Mutation_p.I183T|PHKA1_ENST00000541944.1_Missense_Mutation_p.I183T|PHKA1_ENST00000373539.3_Missense_Mutation_p.I183T|PHKA1_ENST00000373545.3_Missense_Mutation_p.I183T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	183					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTTCCCATATCCCGAAGTC	0.388																																						uc004eax.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(547-549)aTa>aCa		Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.							122	91	102					X																	71895990		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71895990A>G		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.548T>C	X.37:g.71895990A>G	ENSP00000362643:p.Ile183Thr					PHKA1_uc004eay.4_Missense_Mutation_p.I183T|PHKA1_uc011mqi.2_Missense_Mutation_p.I183T	p.I183T	NM_002637	NP_002628	P46020	KPB1_HUMAN			5	849	-	Renal(35;0.156)		183					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.548T>C	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.057586	0.76074	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.46	5.46	0.80206	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.082677	0.85682	D	0.000000	D	0.95223	0.8451	M	0.88377	2.95	0.49389	D	0.999781	P;D;D	0.57571	0.837;0.97;0.98	P;D;P	0.63283	0.504;0.913;0.906	D	0.95684	0.8734	10	0.72032	D	0.01	-7.6793	12.3193	0.54975	1.0:0.0:0.0:0.0	.	183;183;183	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	T	183	ENSP00000362646:I183T;ENSP00000362643:I183T;ENSP00000441251:I183T;ENSP00000342469:I183T;ENSP00000362640:I183T	ENSP00000342469:I183T	I	-	2	0	PHKA1	71812715	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	8.479000	0.90431	1.814000	0.52955	0.414000	0.27820	ATA		0.388	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			G	71895990	A	G	71895990	3	3	259	1	0	0	0	0	1	0	0	0	11843	449	16	4	3231	4	PHKA1	23	71895990	Missense_Mutation	SNP	A	TCGA-76-4927-01A-01D-1486-08		71895990	83374570	67	18516											
PHF6	84295	broad.mit.edu	37	chrX	133551307	133551307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacaaagctaaatacattGaaaatatgtcacgaggaatt	20	9	7	5	1	1	2	1	1	0	1	1	4	1	3	0	1	2	1	0	1	9	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:133551307G>C	ENST00000332070.3	+	9	1145	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	PHF6_ENST00000416404.2_Missense_Mutation_p.E281Q|PHF6_ENST00000370803.3_Missense_Mutation_p.E315Q|PHF6_ENST00000394292.1_Missense_Mutation_p.E316Q|PHF6_ENST00000370799.1_Missense_Mutation_p.E316Q	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	315	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAATACATTGAAAATATGTC	0.353			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.3				Rec	yes		X	Xq26.3	84295	"F, N, Splice, Mis"	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(943-945)Gaa>Caa		Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.							123	106	111					X																	133551307		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133551307G>C	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.943G>C	X.37:g.133551307G>C	ENSP00000329097:p.Glu315Gln					PHF6_uc004exk.3_Missense_Mutation_p.E315Q|PHF6_uc011mvk.2_Missense_Mutation_p.E281Q|PHF6_uc004exi.3_Missense_Mutation_p.E316Q	p.E315Q	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN			8	1145	+	Acute lymphoblastic leukemia(192;0.000127)		315					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.943G>C	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495250	0.85069	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404	T;T;T;T;T	0.71341	-0.07;-0.07;-0.07;-0.56;-0.07	5.92	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.53780	1.695	0.58432	D	0.999997	B;D;P	0.69078	0.089;0.997;0.924	B;D;P	0.79108	0.075;0.992;0.706	T	0.74965	-0.3484	10	0.20046	T	0.44	-14.3881	13.4549	0.61193	0.0767:0.0:0.9233:0.0	.	281;315;316	B4E0G4;Q8IWS0;E9PC97	.;PHF6_HUMAN;.	Q	315;315;316;316;281	ENSP00000359839:E315Q;ENSP00000329097:E315Q;ENSP00000377831:E316Q;ENSP00000359835:E316Q;ENSP00000394480:E281Q	ENSP00000329097:E315Q	E	+	1	0	PHF6	133378973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.458000	0.80787	1.245000	0.43885	0.594000	0.82650	GAA		0.353	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		C	133551307	G	C	133551307	3	2	259	1	0	0	0	0	1	0	0	0	11838	1291	45	5	1078	5	PHF6	23	133551307	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	61655317	133551307	21719253	68	18517											
SLITRK4	139065	broad.mit.edu	37	chrX	142717983	142717983	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctttgcctgcaacgatTccagagatcttggaaggatt	10	11	12	8	1	1	1	0	0	1	1	2	5	2	3	2	3	3	2	2	3	2	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:142717983T>A	ENST00000381779.4	-	2	1167	c.942A>T	c.(940-942)ggA>ggT	p.G314G	SLITRK4_ENST00000338017.4_Silent_p.G314G|SLITRK4_ENST00000356928.1_Silent_p.G314G	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	314						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAACGATTCCAGAGATCT	0.463																																						uc022cfm.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(940-942)ggA>ggT		Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.							160	143	148					X																	142717983		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142717983T>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.942A>T	X.37:g.142717983T>A						SLITRK4_uc022cfl.1_Silent_p.G314G|SLITRK4_uc004fbx.3_Silent_p.G314G|SLITRK4_uc004fby.3_Silent_p.G314G	p.G314G	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			0	942	-	Acute lymphoblastic leukemia(192;6.56e-05)		314					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.942A>T	CCDS14679.1																																																																																				0.463	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		A	142717983	T	A	142717983	2	1	259	1	0	0	0	0	0	0	0	1	14745	1770	62	5		5	SLITRK4	23	142717983	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08	9166676	142717983	12552577	69	18518											
CHD5	26038	broad.mit.edu	37	chr1	6184051	6184051	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgggcagggctggcGggcactggtgtgttggggtc	4	8	23	6	1	0	0	0	0	0	0	1	1	0	1	0	9	0	4	0	9	0	1	rs377149511		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:6184051G>C	ENST00000262450.3	-	31	4755	c.4656C>G	c.(4654-4656)ccC>ccG	p.P1552P	CHD5_ENST00000378021.1_Silent_p.P409P	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGGGCTGGCGGGCACTGGTG	0.677																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4654-4656)ccC>ccG		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							19	24	22					1																	6184051		2203	4299	6502	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6184051G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4656C>G	1.37:g.6184051G>C						CHD5_uc001alz.2_Silent_p.P409P|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.P1552P	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	30	4767	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1552					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.4656C>G	CCDS57.1																																																																																				0.677	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6184051	G	C	6184051	2	2	260	1	0	0	0	0	0	0	0	1	3328	1103	39	5		5	CHD5	1	6184051	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		6184051	243066570	1	18519											
PEX14	5195	broad.mit.edu	37	chr1	10555343	10555343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctgcagccaagctctactCcaggaagtgaaaatgtgctg	11	9	10	11	0	2	1	0	1	2	0	3	2	3	2	2	1	5	3	2	1	5	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:10555343C>G	ENST00000356607.4	+	2	129	c.49C>G	c.(49-51)Cca>Gca	p.P17A	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	17					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTCTACTCCAGGAAGTGA	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001arn.3																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(49-51)Cca>Gca		Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.							151	142	145					1																	10555343		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10555343C>G	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.49C>G	1.37:g.10555343C>G	ENSP00000349016:p.Pro17Ala		OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.P17A|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.P17A|PEX14_uc001arl.3_Non-coding_Transcript	p.P17A	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	1	70	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	17					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.49C>G	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417396	0.62622	.	.	ENSG00000142655	ENST00000356607	T	0.22743	1.94	5.05	5.05	0.67936	.	0.270254	0.29767	N	0.011254	T	0.30916	0.0780	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.03278	-1.1053	10	0.15066	T	0.55	.	15.5573	0.76208	0.0:1.0:0.0:0.0	.	17;17	O75381-2;O75381	.;PEX14_HUMAN	A	17	ENSP00000349016:P17A	ENSP00000349016:P17A	P	+	1	0	PEX14	10477930	0.996000	0.38824	0.967000	0.41034	0.990000	0.78478	2.876000	0.48498	2.332000	0.79248	0.655000	0.94253	CCA		0.428	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			G	10555343	C	G	10555343	3	3	260	1	0	0	0	0	1	0	0	0	11742	855	30	5	55	5	PEX14	1	10555343	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	4371292	10555343	238695278	2	18520											
UBR4	23352	broad.mit.edu	37	chr1	19412732	19412732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttggcattctgcagggcgGcactctcccactcttcccgg	4	11	11	15	2	3	0	0	0	3	0	5	0	4	0	2	4	1	4	2	4	0	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:19412732G>A	ENST00000375254.3	-	101	14747	c.14720C>T	c.(14719-14721)gCc>gTc	p.A4907V	AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375224.1_Missense_Mutation_p.A614V|UBR4_ENST00000375217.2_Missense_Mutation_p.A4900V|UBR4_ENST00000543981.1_Missense_Mutation_p.A571V|UBR4_ENST00000429347.2_Missense_Mutation_p.A430V|UBR4_ENST00000375226.2_Missense_Mutation_p.A4883V|UBR4_ENST00000375267.2_Missense_Mutation_p.A4907V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4907					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCAGGGCGGCACTCTCCCA	0.612																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(14719-14721)gCc>gTc		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							65	62	63					1																	19412732		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19412732G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14720C>T	1.37:g.19412732G>A	ENSP00000364403:p.Ala4907Val					UBR4_uc010ocv.2_Missense_Mutation_p.A430V|UBR4_uc009vph.3_Missense_Mutation_p.A541V|UBR4_uc010ocw.2_Missense_Mutation_p.A571V|UBR4_uc001bbg.3_Missense_Mutation_p.A618V|UBR4_uc001bbh.3_Missense_Mutation_p.A616V	p.A4907V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	100	14724	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4907					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.14720C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762491	0.96906	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.996	D;D;D;D	0.74348	0.983;0.983;0.983;0.971	T	0.79205	-0.1899	10	0.87932	D	0	.	18.5215	0.90954	0.0:0.0:1.0:0.0	.	571;430;4907;4883	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	V	4907;4907;4900;4883;614;430;571	ENSP00000364403:A4907V;ENSP00000364416:A4907V;ENSP00000364365:A4900V;ENSP00000364374:A4883V;ENSP00000364372:A614V;ENSP00000394173:A430V;ENSP00000444070:A571V	ENSP00000364365:A4900V	A	-	2	0	UBR4	19285319	1.000000	0.71417	0.895000	0.35142	0.983000	0.72400	9.476000	0.97823	2.714000	0.92807	0.563000	0.77884	GCC		0.612	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19412732	G	A	19412732	3	1	260	1	0	0	0	0	1	0	0	0	16901	1203	42	3	855	3	UBR4	1	19412732	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	8857389	19412732	229837889	3	18521											
FUCA1	2517	broad.mit.edu	37	chr1	24180899	24180899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatgccatgtcacgaCgatagccccaggaaaacttg	14	6	9	12	2	1	1	1	0	0	1	1	4	1	2	3	1	3	0	3	1	4	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:24180899C>T	ENST00000374479.3	-	5	927	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	307					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CATGTCACGACGATAGCCCCA	0.393																																						uc001bie.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(919-921)cGt>cAt		Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.							152	149	150					1																	24180899		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24180899C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.920G>A	1.37:g.24180899C>T	ENSP00000363603:p.Arg307His					FUCA1_uc009vqt.2_Non-coding_Transcript	p.R307H	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	4	1003	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	307					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.920G>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225907	0.79576	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.56611	0.45	4.77	4.77	0.60923	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76170	-0.3057	10	0.87932	D	0	-15.3138	18.0106	0.89222	0.0:1.0:0.0:0.0	.	307	P04066	FUCO_HUMAN	H	307;96	ENSP00000363603:R307H	ENSP00000363599:R96H	R	-	2	0	FUCA1	24053486	1.000000	0.71417	0.675000	0.29917	0.546000	0.35178	7.278000	0.78587	2.481000	0.83766	0.637000	0.83480	CGT		0.393	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		T	24180899	C	T	24180899	3	4	260	1	0	0	0	0	1	0	0	0	6094	536	19	1	496	1	FUCA1	1	24180899	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	4768167	24180899	225069722	4	18522											
PTPRF	5792	broad.mit.edu	37	chr1	44084401	44084401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccacatacactgtgcGcaccttcgcactccacaagg	9	7	9	16	2	0	0	0	0	0	0	2	0	1	0	3	2	2	3	3	2	2	2	rs375234489		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:44084401G>A	ENST00000359947.4	+	26	4812	c.4472G>A	c.(4471-4473)cGc>cAc	p.R1491H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1482H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R850H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1482H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1491H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1491	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACACTGTGCGCACCTTCGCA	0.572																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(4471-4473)cGc>cAc		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	137	116	123		4472,4445	5.6	1	1		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1491/1908,1482/1899	44084401	1,13005	2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44084401G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4472G>A	1.37:g.44084401G>A	ENSP00000353030:p.Arg1491His					PTPRF_uc001cjs.3_Missense_Mutation_p.R1482H|PTPRF_uc001cju.3_Missense_Mutation_p.R880H|PTPRF_uc009vwt.3_Missense_Mutation_p.R1051H|PTPRF_uc001cjv.3_Missense_Mutation_p.R962H|PTPRF_uc001cjw.3_Missense_Mutation_p.R717H	p.R1491H	NM_002840	NP_002831	P10586	PTPRF_HUMAN			25	4812	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1491			Tyrosine-protein phosphatase 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4472G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.345192|5.345192	0.95807|0.95807	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.34314	.|N	.|0.004072	T|T	0.75095|0.75095	0.3803|0.3803	H|H	0.97131|0.97131	3.945|3.945	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.987;0.999;1.0;0.997;1.0	T|T	0.83212|0.83212	-0.0073|-0.0073	5|10	.|0.87932	.|D	.|0	.|.	20.0957|20.0957	0.97842|0.97842	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1136;850;1068;1482;1491	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	1137|1491;1482;1491;1482;850;563	.|ENSP00000353030:R1491H;ENSP00000398822:R1482H;ENSP00000361491:R1491H;ENSP00000361490:R1482H;ENSP00000387885:R850H;ENSP00000361484:R563H	.|ENSP00000353030:R1491H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43856988|43856988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	9.807000|9.807000	0.99171|0.99171	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.572	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44084401	G	A	44084401	3	1	260	1	0	0	0	0	1	0	0	0	12801	1087	38	1	4566	1	PTPRF	1	44084401	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	19903502	44084401	205166220	5	18523											
MUTYH	4595	broad.mit.edu	37	chr1	45797967	45797967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggctgggtccaccagCtgctgggctagacccctaaa	7	6	14	14	1	0	1	0	0	0	1	1	1	1	1	5	4	2	4	5	4	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:45797967C>T	ENST00000372098.3	-	10	928	c.795G>A	c.(793-795)caG>caA	p.Q265Q	MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000450313.1_Silent_p.Q268Q|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000528013.2_Silent_p.Q254Q|MUTYH_ENST00000372100.5_Silent_p.Q251Q|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000355498.2_Silent_p.Q240Q|MUTYH_ENST00000456914.2_Silent_p.Q240Q|MUTYH_ENST00000354383.6_Silent_p.Q241Q|MUTYH_ENST00000372104.1_Silent_p.Q240Q|MUTYH_ENST00000448481.1_Silent_p.Q251Q|MUTYH_ENST00000372115.3_Silent_p.Q254Q|MUTYH_ENST00000372110.3_Silent_p.Q255Q			Q9UIF7	MUTYH_HUMAN	mutY homolog	265					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGTCCACCAGCTGCTGGGCTA	0.597			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.3			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(793-795)caG>caA	Base excision repair (BER), DNA glycosylases	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.							29	30	30					1																	45797967		2203	4300	6503	SO:0001819	synonymous_variant	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797967C>T	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.795G>A	1.37:g.45797967C>T						MUTYH_uc001cnf.3_Silent_p.Q240Q|MUTYH_uc009vxo.3_Silent_p.Q240Q|MUTYH_uc001cng.3_Silent_p.Q251Q|MUTYH_uc001cnj.3_Silent_p.Q148Q|MUTYH_uc001cni.3_Silent_p.Q240Q|MUTYH_uc001cnh.3_Silent_p.Q241Q|MUTYH_uc001cnl.3_Silent_p.Q254Q|MUTYH_uc009vxp.3_Silent_p.Q268Q|MUTYH_uc001cnn.3_Silent_p.Q255Q|MUTYH_uc001cno.3_Silent_p.Q148Q|MUTYH_uc010oll.2_Intron	p.Q265Q	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			9	1011	-	Acute lymphoblastic leukemia(166;0.155)		265					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	c.795G>A	CCDS520.1																																																																																				0.597	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		T	45797967	C	T	45797967	2	4	260	1	0	0	0	0	0	0	0	1	9993	796	28	3		3	MUTYH	1	45797967	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	1713566	45797967	203452654	6	18524											
DENND2C	163259	broad.mit.edu	37	chr1	115167981	115167981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctacgaggttttggcaaagGatttatggaaggtccacatt	11	12	11	7	1	0	0	0	0	0	0	1	3	1	2	2	5	1	2	2	5	4	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:115167981G>C	ENST00000393274.1	-	4	1250	c.625C>G	c.(625-627)Cct>Gct	p.P209A	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393277.1_Missense_Mutation_p.P209A|DENND2C_ENST00000393276.3_Missense_Mutation_p.P209A	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	209					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGCAAAGGATTTATGGAA	0.378																																						uc001efd.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(625-627)Cct>Gct		Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.							94	94	94					1																	115167981		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115167981G>C		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.625C>G	1.37:g.115167981G>C	ENSP00000376955:p.Pro209Ala					DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P209A	p.P209A	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1327	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	209					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.625C>G	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043471	0.75732	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.62364	0.03;1.09;0.74	5.22	5.22	0.72569	.	0.198860	0.47093	D	0.000244	T	0.77294	0.4109	M	0.79011	2.435	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80457	-0.1374	10	0.87932	D	0	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	209;209	Q68D51;Q68D51-3	DEN2C_HUMAN;.	A	209	ENSP00000376957:P209A;ENSP00000376955:P209A;ENSP00000376958:P209A	ENSP00000358553:P209A	P	-	1	0	DENND2C	114969504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.744000	0.74854	2.451000	0.82905	0.585000	0.79938	CCT		0.378	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		C	115167981	G	C	115167981	3	2	260	1	0	0	0	0	1	0	0	0	4430	1174	41	5	2058	5	DENND2C	1	115167981	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	69370014	115167981	134082640	7	18525											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785226	149785226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgcgggcagtctgcttaGtacgggccatgctgtctcat	6	12	12	11	2	2	0	1	0	2	0	3	0	2	0	1	2	4	4	1	2	2	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:149785226G>C	ENST00000331491.1	-	1	10	c.11C>G	c.(10-12)aCt>aGt	p.T4S	HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	4					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGTCTGCTTAGTACGGGCCAT	0.567																																						uc010pbl.2																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(10-12)aCt>aGt		Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.							31	32	31					1																	149785226		1564	3564	5128	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785226G>C	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.11C>G	1.37:g.149785226G>C	ENSP00000333277:p.Thr4Ser					HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	p.T4S	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			0	11	-			4					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.11C>G	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559879	0.45590	.	.	ENSG00000183598	ENST00000331491	T	0.46451	0.87	4.13	4.13	0.48395	.	0.000000	0.56097	U	0.000038	T	0.51058	0.1652	.	.	.	0.51767	D	0.999934	.	.	.	.	.	.	T	0.57825	-0.7744	7	0.87932	D	0	.	15.4963	0.75653	0.0:0.0:1.0:0.0	.	.	.	.	S	4	ENSP00000333277:T4S	ENSP00000333277:T4S	T	-	2	0	HIST2H3D	148051850	1.000000	0.71417	0.519000	0.27824	0.166000	0.22503	8.930000	0.92872	2.302000	0.77476	0.436000	0.28706	ACT		0.567	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		C	149785226	G	C	149785226	3	2	260	1	0	0	0	0	1	0	0	0	7181	1029	36	5	401	5	HIST2H3D	1	149785226	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	34617245	149785226	99465395	8	18526											
FLG	2312	broad.mit.edu	37	chr1	152285914	152285914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgctggtcccggtccgtCcatgggcagagtcaggctgt	5	9	15	12	2	1	1	1	0	0	1	4	1	4	1	3	4	1	3	3	4	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:152285914C>A	ENST00000368799.1	-	3	1483	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	483	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGGTCCGTCCATGGGCAGA	0.607									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1447-1449)gGa>gTa		Homo sapiens filaggrin (FLG), mRNA.							226	215	219					1																	152285914		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285914C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1448G>T	1.37:g.152285914C>A	ENSP00000357789:p.Gly483Val					AK056431_uc001ezv.3_5'Flank	p.G483V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1484	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		483			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1448G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.46	1.356606	0.24598	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.07688	3.17	3.82	-2.2	0.06994	.	.	.	.	.	T	0.11024	0.0269	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04915	-1.0918	9	0.48119	T	0.1	.	4.2208	0.10556	0.0:0.3639:0.3252:0.3109	.	483	P20930	FILA_HUMAN	V	483;15	ENSP00000357789:G483V	ENSP00000357789:G483V	G	-	2	0	FLG	150552538	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.181000	0.00568	-0.540000	0.06265	0.505000	0.49811	GGA		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285914	C	A	152285914	3	1	260	1	0	0	0	0	1	0	0	0	5922	855	30	5	10741	5	FLG	1	152285914	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	2500688	152285914	96964707	9	18527											
UBAP2L	9898	broad.mit.edu	37	chr1	154242707	154242707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaacgtagccagaccagctCcatcccgcagaagccccaga	12	3	9	17	2	0	3	0	0	0	3	2	3	2	3	6	0	4	4	6	0	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:154242707C>T	ENST00000361546.2	+	26	3242	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	UBAP2L_ENST00000428931.1_Missense_Mutation_p.S1067F|HAX1_ENST00000328703.7_5'Flank|HAX1_ENST00000483970.2_5'Flank|UBAP2L_ENST00000271877.7_Intron|HAX1_ENST00000457918.2_5'Flank|HAX1_ENST00000532105.1_5'Flank			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1067					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGACCAGCTCCATCCCGCAG	0.562																																						uc001fep.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(3199-3201)tCc>tTc		Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.							98	93	95					1																	154242707		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154242707C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3200C>T	1.37:g.154242707C>T	ENSP00000355343:p.Ser1067Phe					UBAP2L_uc010pel.2_Intron|UBAP2L_uc001feq.3_Intron|UBAP2L_uc001fer.3_Missense_Mutation_p.S280F|HAX1_uc001fet.3_5'Flank|HAX1_uc001fes.3_5'Flank|HAX1_uc010peo.2_5'Flank|HAX1_uc009wou.3_5'Flank	p.S1067F	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		26	3367	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		1067					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.3200C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768690	0.69878	.	.	ENSG00000143569	ENST00000428931;ENST00000456955;ENST00000433006;ENST00000361546	T;T	0.16324	2.35;2.35	5.99	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.65815	0.99;0.995	D;D	0.74348	0.962;0.983	T	0.00514	-1.1695	10	0.87932	D	0	-5.8365	13.3923	0.60830	0.0:0.9241:0.0:0.0759	.	580;1067	C9JD99;Q14157	.;UBP2L_HUMAN	F	1067;580;580;1067	ENSP00000389445:S1067F;ENSP00000355343:S1067F	ENSP00000355343:S1067F	S	+	2	0	UBAP2L	152509331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.730000	0.68546	2.843000	0.97960	0.655000	0.94253	TCC		0.562	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		T	154242707	C	T	154242707	3	4	260	1	0	0	0	0	1	0	0	0	16835	855	30	3	3356	3	UBAP2L	1	154242707	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	1956793	154242707	95007914	10	18528											
SMG7	9887	broad.mit.edu	37	chr1	183486872	183486872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacactgcaaggccaggcaAagaatcgagcaaatccgaat	17	4	9	11	2	0	1	0	0	0	1	2	3	1	1	2	2	3	3	2	2	6	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:183486872A>G	ENST00000347615.2	+	4	348	c.229A>G	c.(229-231)Aag>Gag	p.K77E	SMG7_ENST00000507469.1_Missense_Mutation_p.K77E|SMG7_ENST00000456731.2_Missense_Mutation_p.K35E|SMG7_ENST00000515829.2_Missense_Mutation_p.K77E|SMG7_ENST00000508461.1_Missense_Mutation_p.K35E|SMG7_ENST00000367537.3_Missense_Mutation_p.K106E	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	77					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGGCCAGGCAAAGAATCGAGC	0.443																																						uc001gqg.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(229-231)Aag>Gag		Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.							182	168	172					1																	183486872		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183486872A>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.229A>G	1.37:g.183486872A>G	ENSP00000340766:p.Lys77Glu					SMG7_uc010pob.2_Missense_Mutation_p.K106E|SMG7_uc021pga.1_Missense_Mutation_p.K35E|SMG7_uc001gqf.3_Missense_Mutation_p.K77E|SMG7_uc001gqh.3_Missense_Mutation_p.K77E|SMG7_uc010poc.2_Missense_Mutation_p.K35E	p.K77E	NM_173156	NP_775179	Q92540	SMG7_HUMAN			3	479	+			77					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.229A>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710648	0.89112	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.28	5.28	0.74379	Telomerase activating protein Est1 (1);	0.102275	0.64402	D	0.000003	T	0.40956	0.1138	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999	D;D;D;D;D;D	0.74674	0.984;0.974;0.974;0.941;0.977;0.974	T	0.24154	-1.0168	10	0.66056	D	0.02	-14.5758	15.222	0.73320	1.0:0.0:0.0:0.0	.	35;106;35;77;77;77	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	E	35;106;35;35;77;77;77	ENSP00000407629:K35E;ENSP00000356507:K106E;ENSP00000426915:K35E;ENSP00000388390:K35E;ENSP00000340766:K77E;ENSP00000425133:K77E;ENSP00000421358:K77E	ENSP00000340766:K77E	K	+	1	0	SMG7	181753495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.770000	0.91746	1.981000	0.57761	0.533000	0.62120	AAG		0.443	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		G	183486872	A	G	183486872	3	3	260	1	0	0	0	0	1	0	0	0	14798	15	1	4	243	4	SMG7	1	183486872	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	29244165	183486872	65763749	11	18529											
APOB	338	broad.mit.edu	37	chr2	21230333	21230333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattgtgtaaggtagaCgcatttcaggaattgttaaa	13	15	10	3	1	1	2	1	1	0	1	1	3	1	3	0	2	0	4	0	2	6	7	rs199590149		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:21230333C>T	ENST00000233242.1	-	26	9534	c.9407G>A	c.(9406-9408)cGt>cAt	p.R3136H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3136					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3136H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAAGGTAGACGCATTTCAGG	0.373													C|||	1	0.000199681	0	0	5008	,	,		19355	0		0.001	False		,,,				2504	0					uc002red.3																			1	Substitution - Missense(1)	p.R3136H(2)|p.R3136C(2)	lung(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9406-9408)cGt>cAt		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						112	116	115					2																	21230333		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230333C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9407G>A	2.37:g.21230333C>T	ENSP00000233242:p.Arg3136His						p.R3136H	NM_000384	NP_000375	P04114	APOB_HUMAN			25	9535	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3136					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9407G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029657	0.02045	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36340	1.26	5.68	1.68	0.24146	.	0.768179	0.12102	N	0.499372	T	0.13586	0.0329	N	0.01874	-0.695	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.23226	-1.0194	10	0.40728	T	0.16	.	6.1252	0.20176	0.068:0.0924:0.294:0.5456	.	3136	P04114	APOB_HUMAN	H	3136	ENSP00000233242:R3136H	ENSP00000233242:R3136H	R	-	2	0	APOB	21083838	0.000000	0.05858	0.113000	0.21522	0.067000	0.16453	0.603000	0.24149	0.013000	0.14918	-1.639000	0.00775	CGT		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21230333	C	T	21230333	3	4	260	1	0	0	0	0	1	0	0	0	785	536	19	1	4300	1	APOB	2	21230333	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		21230333	221969040	12	18530											
NRXN1	9378	broad.mit.edu	37	chr2	50573861	50573861	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggatgccggtgacctgTagattgcaataggcactgaa	12	8	13	8	1	0	3	0	2	0	1	0	4	0	4	2	3	2	4	2	3	5	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:50573861T>C	ENST00000406316.2	-	18	4841				NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000342183.5_Missense_Mutation_p.Y76C|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000331040.5_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGTGACCTGTAGATTGCAAT	0.602																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58								Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							97	76	84					2																	50573861		2203	4300	6503	SO:0001627	intron_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50573861T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109753A>G	2.37:g.50573861T>C						NRXN1_uc010fbp.3_Missense_Mutation_p.Y76C|NRXN1_uc002rxb.4_Intron|NRXN1_uc021vhg.1_Intron|NRXN1_uc021vhi.1_Intron|NRXN1_uc021vhj.1_Intron|NRXN1_uc002rxc.1_Intron		NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)				-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)						A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37		CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019745	0.35606	.	.	ENSG00000179915	ENST00000342183;ENST00000536347	T	0.44881	0.91	5.05	3.81	0.43845	.	.	.	.	.	T	0.39384	0.1076	L	0.32530	0.975	0.80722	D	1	P	0.47762	0.9	P	0.48873	0.593	T	0.30937	-0.9961	9	0.62326	D	0.03	.	10.6973	0.45907	0.1429:0.0:0.0:0.8571	.	76	P58400	NRX1B_HUMAN	C	76;30	ENSP00000341184:Y76C	ENSP00000341184:Y76C	Y	-	2	0	NRXN1	50427365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.944000	0.63561	1.916000	0.55485	0.379000	0.24179	TAC		0.602	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			C	50573861	T	C	50573861	1	2	260	0	1	0	0	0	0	0	0	0	10665	1638	57	4		4	NRXN1	2	50573861	Intron	SNP	T	TCGA-76-4928-01B-01D-1486-08	29343528	50573861	192625512	13	18531											
ETAA1	54465	broad.mit.edu	37	chr2	67631223	67631226	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															ttcaccaaattcaaataaatCaaacaaattatccactggaa																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:67631223_67631226delCAAA	ENST00000272342.5	+	5	1539_1542	c.1409_1412delCAAA	c.(1408-1413)tcaaacfs	p.SN470fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	470						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAATAAATCAAACAAATTATCC	0.265																																						uc002sdz.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1408-1413)tcaaacfs		Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.																																				SO:0001589	frameshift_variant	54465					cytoplasm|nucleus		g.chr2:67631223_67631226delCAAA	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1409_1412delCAAA	2.37:g.67631227_67631230delCAAA	ENSP00000272342:p.Ser470fs						p.S470fs	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			4	1548_1551	+			470					Q05BT7|Q53SC4	Frame_Shift_Del	DEL	ENST00000272342.5	37	c.1409_1412delCAAA	CCDS1882.1																																																																																				0.265	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		-	67631226	CAAA	-	67631223	7	5	260	1	0	1	0	1	0	0	0	0	5267	838	29	0	1427	0	ETAA1	2	67631223	Frame_Shift_Del	DEL	CAAA	TCGA-76-4928-01B-01D-1486-08	17057362	67631223	175568150	14	18532											
SLC9A4	389015	broad.mit.edu	37	chr2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctaaagagattctgatcCgccgccagaacaccttaagg	13	7	10	11	2	1	3	0	1	1	2	2	4	2	3	4	2	1	1	4	2	4	3	rs201264205		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1888-1890)Cgc>Tgc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.		C	CYS/ARG	0,4406		0,0,2203	159	166	164		1888	5.8	1	2		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/799	103141552	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141552C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1888C>T	2.37:g.103141552C>T	ENSP00000295269:p.Arg630Cys						p.R630C	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			9	2345	+			630					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1888C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073447	0.76415	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.48201	0.82	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.56124	0.1964	M	0.86268	2.805	0.58432	D	0.999996	B	0.32350	0.366	B	0.28916	0.096	T	0.61163	-0.7118	10	0.62326	D	0.03	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	C	630	ENSP00000295269:R630C	ENSP00000295269:R630C	R	+	1	0	SLC9A4	102507984	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.751000	0.62169	2.765000	0.95021	0.643000	0.83706	CGC		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103141552	C	T	103141552	3	4	260	1	0	0	0	0	1	0	0	0	14716	652	23	2	1926	2	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	35510329	103141552	140057821	15	18533											
LY75	4065	broad.mit.edu	37	chr2	160711043	160711043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccatgaattccagcaCggtctaaagaagaagaagaa	17	6	11	7	1	1	5	0	1	1	4	3	6	3	5	2	2	1	1	2	2	7	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:160711043C>T	ENST00000263636.4	-	18	2450	c.2423G>A	c.(2422-2424)cGt>cAt	p.R808H	LY75_ENST00000553424.1_Missense_Mutation_p.R808H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R808H|LY75_ENST00000554112.1_Missense_Mutation_p.R808H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R808H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	808					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R808H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATTCCAGCACGGTCTAAAGA	0.363																																						uc002ubb.4																			1	Substitution - Missense(1)	p.R808H(1)	prostate(1)								c.(2422-2424)cGt>cAt		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.							65	65	65					2																	160711043		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160711043C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2423G>A	2.37:g.160711043C>T	ENSP00000263636:p.Arg808His					LY75-CD302_uc010fos.3_Missense_Mutation_p.R808H|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R808H	p.R808H	NM_001198759	NP_001185688	O60449	LY75_HUMAN			17	2497	-			808					O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.2423G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061440	0.76187	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.09817	2.97;2.97;2.94;2.97;2.97	5.69	5.69	0.88448	.	0.000000	0.33075	U	0.005307	T	0.30103	0.0754	M	0.72479	2.2	0.35001	D	0.755982	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.92;0.904;0.966	T	0.21449	-1.0245	10	0.23302	T	0.38	-17.1381	15.3069	0.73998	0.0:1.0:0.0:0.0	.	808;808;808	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	808	ENSP00000451511:R808H;ENSP00000451446:R808H;ENSP00000263636:R808H;ENSP00000423463:R808H;ENSP00000421035:R808H	ENSP00000423463:R808H	R	-	2	0	LY75;LY75-CD302	160419289	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.929000	0.40114	2.658000	0.90341	0.655000	0.94253	CGT		0.363	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160711043	C	T	160711043	3	4	260	1	0	0	0	0	1	0	0	0	9099	536	19	1	2817	1	LY75	2	160711043	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	57569491	160711043	82488330	16	18534											
TRANK1	9881	broad.mit.edu	37	chr3	36898731	36898731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggtcatgttatcgaagtCctggaggcaggcctcaatct	9	10	11	11	1	3	0	2	0	1	0	5	2	4	1	3	4	0	2	3	4	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:36898731C>T	ENST00000429976.2	-	12	2597	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	TRANK1_ENST00000428977.2_Missense_Mutation_p.D234N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D234N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	784							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTATCGAAGTCCTGGAGGCAG	0.502																																						uc003cgj.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2350-2352)Gac>Aac		Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.							231	224	226					3																	36898731		2043	4209	6252	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898731C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2350G>A	3.37:g.36898731C>T	ENSP00000416168:p.Asp784Asn						p.D784N	NM_014831	NP_055646	O15050	TRNK1_HUMAN			11	2598	-			784					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2350G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615770	0.66672	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32753	1.44;1.85;1.44	5.64	4.76	0.60689	.	0.110353	0.39759	N	0.001265	T	0.29652	0.0740	L	0.34521	1.04	0.37440	D	0.914388	D	0.56035	0.974	P	0.45310	0.476	T	0.29792	-1.0000	10	0.59425	D	0.04	.	15.206	0.73180	0.0:0.9315:0.0:0.0685	.	784	O15050	TRNK1_HUMAN	N	234;784;234	ENSP00000416826:D234N;ENSP00000416168:D784N;ENSP00000301807:D234N	ENSP00000301807:D234N	D	-	1	0	TRANK1	36873735	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.313000	0.59160	1.513000	0.48852	0.655000	0.94253	GAC		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36898731	C	T	36898731	3	4	260	1	0	0	0	0	1	0	0	0	16451	855	30	3	6475	3	TRANK1	3	36898731	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		36898731	161123699	17	18535											
CEP97	79598	broad.mit.edu	37	chr3	101451368	101451368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttaactgaattggaacagTtgtcgattatgaacaatcct	13	13	7	8	1	0	2	0	2	0	0	2	4	1	3	2	1	3	1	2	1	6	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:101451368T>G	ENST00000341893.3	+	6	1350	c.598T>G	c.(598-600)Ttg>Gtg	p.L200V	CEP97_ENST00000327230.4_Missense_Mutation_p.L200V|CEP97_ENST00000494050.1_Missense_Mutation_p.L200V			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	200					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGGAACAGTTGTCGATTAT	0.418																																						uc003dvk.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(598-600)Ttg>Gtg		Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.							135	121	126					3																	101451368		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101451368T>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.598T>G	3.37:g.101451368T>G	ENSP00000342510:p.Leu200Val					CEP97_uc010hpm.1_Missense_Mutation_p.L166V|CEP97_uc011bhf.1_Missense_Mutation_p.L200V|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L38V	p.L200V	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			5	625	+			200					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.598T>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741958	0.69418	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53206	1.23;1.23;0.63	5.82	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.79475	2.455	0.47441	D	0.999427	D;D;D	0.89917	1.0;0.999;0.99	D;D;D	0.83275	0.996;0.992;0.981	T	0.66885	-0.5810	10	0.52906	T	0.07	-6.5251	9.2699	0.37664	0.0:0.1552:0.0:0.8448	.	200;200;200	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	V	200	ENSP00000342510:L200V;ENSP00000325881:L200V;ENSP00000418185:L200V	ENSP00000325881:L200V	L	+	1	2	CEP97	102934058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.109000	0.50345	1.044000	0.40200	0.460000	0.39030	TTG		0.418	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		G	101451368	T	G	101451368	3	3	260	1	0	0	0	0	1	0	0	0	3263	1722	60	5	620	5	CEP97	3	101451368	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	64552637	101451368	96571062	18	18536											
TMPRSS7	344805	broad.mit.edu	37	chr3	111799811	111799811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaaagtgatggaaaatgGattttgactggcattgttag	15	12	12	2	0	0	3	0	2	0	1	0	5	0	5	0	3	0	2	0	3	5	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:111799811G>T	ENST00000452346.2	+	18	2415	c.2412G>T	c.(2410-2412)tgG>tgT	p.W804C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.W678C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	804	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGAAAATGGATTTTGACTG	0.403																																						uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2032-2034)tgG>tgT		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							266	260	262					3																	111799811		1979	4159	6138	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111799811G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2412G>T	3.37:g.111799811G>T	ENSP00000398236:p.Trp804Cys					TMPRSS7_uc011bhr.1_Missense_Mutation_p.W533C	p.W678C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			15	2204	+			804			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.2034G>T		.	.	.	.	.	.	.	.	.	.	G	19.29	3.799750	0.70567	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.63096	-0.02;-0.02	5.75	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88415	0.3024	10	0.87932	D	0	.	13.7888	0.63126	0.0749:0.0:0.9251:0.0	.	804;678	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	804;792;778;678	ENSP00000398236:W804C;ENSP00000411645:W678C	ENSP00000411645:W678C	W	+	3	0	TMPRSS7	113282501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.943000	0.92975	1.453000	0.47775	0.650000	0.86243	TGG		0.403	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		T	111799811	G	T	111799811	3	4	260	1	0	0	0	0	1	0	0	0	16249	1183	41	5	2092	5	TMPRSS7	3	111799811	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	10348443	111799811	86222619	19	18537											
MECOM	2122	broad.mit.edu	37	chr3	168849257	168849257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcatggggatagtcttcGctcttcatgaacagcagaag	10	12	11	8	1	4	2	2	1	2	1	5	3	4	3	0	2	2	3	0	2	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:168849257G>A	ENST00000464456.1	-	3	1209	c.9C>T	c.(7-9)agC>agT	p.S3S	MECOM_ENST00000433243.2_Silent_p.S3S|MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000494292.1_Silent_p.S191S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000472280.1_Silent_p.S3S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458																																						uc011bpj.1																			0		p.C190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(571-573)agC>agT		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							156	102	120					3																	168849257		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168849257G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.9C>T	3.37:g.168849257G>A						MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc003ffi.3_Silent_p.S3S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpk.1_Silent_p.S3S|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	p.S191S	NM_004991	NP_004982	Q13465	MDS1_HUMAN			3	976	-			98					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.573C>T	CCDS54669.1																																																																																				0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		A	168849257	G	A	168849257	2	1	260	1	0	0	0	0	0	0	0	1	9422	1078	38	1		1	MECOM	3	168849257	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	57049446	168849257	29173173	20	18538											
PIK3CA	5290	broad.mit.edu	37	chr3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagaagcagaaagggaaGaattttttgatgaaacaaga	19	8	10	4	0	1	6	1	2	0	4	1	7	1	7	0	1	2	1	0	1	7	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E81K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		8	Substitution - Missense(8)	p.E81K(18)|p.E80K(1)	endometrium(4)|large_intestine(3)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(241-243)Gaa>Aaa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							107	101	103					3																	178916854		1820	4081	5901	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916854G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E81K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	398	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		81			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.241G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916854	G	A	178916854	3	1	260	1	0	0	0	0	1	0	0	0	11913	943	33	3	243	3	PIK3CA	3	178916854	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	10067597	178916854	19105576	21	18539											
LAMP3	27074	broad.mit.edu	37	chr3	182870190	182870190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgagattcacaaatccGccctgaaaattcaacagaag	17	8	7	9	1	2	3	2	2	0	2	3	4	3	3	2	0	1	0	2	0	6	2	rs369565285		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:182870190G>A	ENST00000265598.3	-	3	1116	c.861C>T	c.(859-861)ggC>ggT	p.G287G	LAMP3_ENST00000466939.1_Silent_p.G263G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	287					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCACAAATCCGCCCTGAAAAT	0.512													G|||	1	0.000199681	0	0	5008	,	,		19864	0		0	False		,,,				2504	0.001					uc003flh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(859-861)ggC>ggT		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	133	142	139		861	-10.8	0	3		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMP3	NM_014398.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		287/417	182870190	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182870190G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.861C>T	3.37:g.182870190G>A							p.G287G	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	1085	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		287					D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.861C>T	CCDS3242.1																																																																																				0.512	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			A	182870190	G	A	182870190	2	1	260	1	0	0	0	0	0	0	0	1	8619	1074	38	1		1	LAMP3	3	182870190	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	3953336	182870190	15152240	22	18540											
LSG1	55341	broad.mit.edu	37	chr3	194373563	194373563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatggctaaaattgtgtatCtgcctcttctgtggggtttt	7	17	11	6	0	3	1	0	0	3	1	3	1	3	1	1	3	1	3	1	3	3	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:194373563C>T	ENST00000265245.5	-	8	1382	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	356	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AATTGTGTATCTGCCTCTTCT	0.507																																						uc003fui.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(1066-1068)caG>caA		Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.							183	176	178					3																	194373563		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194373563C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1068G>A	3.37:g.194373563C>T							p.Q356Q	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	7	1383	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		356					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.1068G>A	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997554	0.19043	.	.	ENSG00000041802	ENST00000437613	.	.	.	6.02	-4.29	0.03721	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	8.3956	0.32555	0.0:0.4001:0.1789:0.421	.	.	.	.	K	90	.	.	R	-	2	0	LSG1	195854852	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-2.365000	0.01079	-0.972000	0.03559	0.655000	0.94253	AGA		0.507	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		T	194373563	C	T	194373563	2	4	260	1	0	0	0	0	0	0	0	1	9049	912	32	3		3	LSG1	3	194373563	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	11503373	194373563	3648867	23	18541											
PCDH7	5099	broad.mit.edu	37	chr4	30725808	30725808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaaaagatcacgaagacTtttttacaccccaacagcat	17	8	5	11	1	1	2	1	0	0	2	1	3	1	2	2	0	3	2	2	0	6	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:30725808T>C	ENST00000361762.2	+	1	3772	c.2764T>C	c.(2764-2766)Ttt>Ctt	p.F922L	PCDH7_ENST00000543491.1_Missense_Mutation_p.F922L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	922					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCACGAAGACTTTTTTACACC	0.383																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2764-2766)Ttt>Ctt		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							81	85	84					4																	30725808		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725808T>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2764T>C	4.37:g.30725808T>C	ENSP00000355243:p.Phe922Leu					PCDH7_uc011bxx.2_Missense_Mutation_p.F922L|PCDH7_uc021xnd.1_Missense_Mutation_p.F922L|PCDH7_uc021xnc.1_Missense_Mutation_p.F922L	p.F922L	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	3772	+			922					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2764T>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.568|8.568	0.879356|0.879356	0.17467|0.17467	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.30182|.	1.54;1.54|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	N|N	0.20401|0.20401	0.57|0.57	0.53005|0.53005	D|D	0.999966|0.999966	B;P;P|.	0.50819|.	0.053;0.925;0.939|.	B;P;P|.	0.54664|.	0.063;0.712;0.758|.	T|T	0.47623|0.47623	-0.9103|-0.9103	9|5	0.12430|.	T|.	0.62|.	.|.	15.1597|15.1597	0.72775|0.72775	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	922;875;922|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	L|P	922;922;875|611	ENSP00000355243:F922L;ENSP00000441802:F922L|.	ENSP00000330302:F875L|.	F|L	+|+	1|2	0|0	PCDH7|PCDH7	30334906|30334906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.807000|5.807000	0.69157|0.69157	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.383	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		C	30725808	T	C	30725808	3	2	260	1	0	0	0	0	1	0	0	0	11516	1609	56	4	2766	4	PCDH7	4	30725808	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08		30725808	160428468	24	18542											
SMR3B	10879	broad.mit.edu	37	chr4	71255518	71255518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcccacctcctcctcccGcaccctatggtccagggata	8	8	7	18	1	0	0	0	0	0	0	5	2	5	1	7	2	0	1	7	2	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:71255518G>A	ENST00000304915.3	+	3	342	c.193G>A	c.(193-195)Gca>Aca	p.A65T	SMR3B_ENST00000504825.1_Missense_Mutation_p.A65T	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	65	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				TCCTCCTCCCGCACCCTATGG	0.602																																						uc011cas.2																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(193-195)Gca>Aca		Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.							117	109	112					4																	71255518		2203	4300	6503	SO:0001583	missense	10879					extracellular region		g.chr4:71255518G>A	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"proline rich 3", "submaxillary gland androgen regulated protein 3 homolog B (mouse)"	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.193G>A	4.37:g.71255518G>A	ENSP00000302400:p.Ala65Thr					SMR3A_uc003hfh.3_Missense_Mutation_p.A65T	p.A65T	NM_006685	NP_006676	Q99954	SMR3A_HUMAN			2	274	+		all_hematologic(202;0.196)	69			Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	c.193G>A	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	G	2.722	-0.266384	0.05754	.	.	ENSG00000171201	ENST00000504825;ENST00000304915	T;T	0.29655	1.56;1.56	1.24	0.345	0.16011	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.25012	-1.0144	8	0.87932	D	0	.	5.2029	0.15275	0.0:0.617:0.383:0.0	.	65	P02814	SMR3B_HUMAN	T	65	ENSP00000423138:A65T;ENSP00000302400:A65T	ENSP00000302400:A65T	A	+	1	0	SMR3B	71290107	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.099000	0.11007	0.085000	0.17107	-1.087000	0.02190	GCA		0.602	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685		A	71255518	G	A	71255518	3	1	260	1	0	0	0	0	1	0	0	0	14812	1087	38	1	199	1	SMR3B	4	71255518	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	40529710	71255518	119898758	25	18543											
AFM	173	broad.mit.edu	37	chr4	74364954	74364954	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagagtttgcctgtgtTgataatttggtgagcatggc	9	14	14	4	0	0	4	0	3	0	1	0	4	0	4	1	2	2	3	1	2	2	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:74364954T>A	ENST00000226355.3	+	11	1506	c.1413T>A	c.(1411-1413)gtT>gtA	p.V471V		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	471	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCCTGTGTTGATAATTTGG	0.388																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1411-1413)gtT>gtA		Homo sapiens afamin (AFM), mRNA.							172	148	156					4																	74364954		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74364954T>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1413T>A	4.37:g.74364954T>A							p.V471V	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1444	+	Breast(15;0.00102)		471			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.1413T>A	CCDS3557.1																																																																																				0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			A	74364954	T	A	74364954	2	1	260	1	0	0	0	0	0	0	0	1	361	1799	63	5		5	AFM	4	74364954	Silent	SNP	T	TCGA-76-4928-01B-01D-1486-08	3109436	74364954	116789322	26	18544											
KLHL8	57563	broad.mit.edu	37	chr4	88091238	88091238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatttactcaccaactacGtataagcaaccatgaagctt	14	10	4	13	1	1	1	1	1	0	0	1	1	1	1	3	0	6	3	3	0	7	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:88091238G>A	ENST00000273963.5	-	8	1871	c.1530C>T	c.(1528-1530)taC>taT	p.Y510Y	KLHL8_ENST00000425278.2_Silent_p.Y327Y|KLHL8_ENST00000498875.2_Silent_p.Y434Y|KLHL8_ENST00000512111.1_Silent_p.Y510Y|KLHL8_ENST00000545252.1_Silent_p.Y159Y	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	510					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACCAACTACGTATAAGCAAC	0.358																																						uc011cdb.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1528-1530)taC>taT		Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.							111	107	108					4																	88091238		2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88091238G>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1530C>T	4.37:g.88091238G>A						KLHL8_uc003hql.1_Silent_p.Y510Y|KLHL8_uc003hqm.1_Silent_p.Y434Y|KLHL8_uc003hqn.1_Silent_p.Y327Y|KLHL8_uc010ikj.1_Silent_p.Y159Y	p.Y510Y	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	7	1915	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	510					Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.1530C>T	CCDS3617.1																																																																																				0.358	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			A	88091238	G	A	88091238	2	1	260	1	0	0	0	0	0	0	0	1	8395	1140	40	1		1	KLHL8	4	88091238	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	13726284	88091238	103063038	27	18545											
ADH1A	124	broad.mit.edu	37	chr4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtatttcaccttaatacGaacttcatgggccttaggag	12	13	8	8	1	2	0	2	0	0	0	2	2	2	1	2	2	2	1	2	2	6	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:100208729G>A	ENST00000209668.2	-	2	225	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	38					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	ACCTTAATACGAACTTCATGG	0.348																																						uc003hur.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(112-114)Cgt>Tgt		Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						64	63	63					4																	100208729		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208729G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.112C>T	4.37:g.100208729G>A	ENSP00000209668:p.Arg38Cys					LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.R38C	p.R38C	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	1	226	-			38					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.112C>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575783	0.65878	.	.	ENSG00000187758	ENST00000209668	T	0.05199	3.48	4.25	4.25	0.50352	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61192	-0.7112	10	0.72032	D	0.01	-6.389	16.6281	0.84992	0.0:0.0:1.0:0.0	.	38	P07327	ADH1A_HUMAN	C	38	ENSP00000209668:R38C	ENSP00000209668:R38C	R	-	1	0	ADH1A	100427752	1.000000	0.71417	0.991000	0.47740	0.767000	0.43475	5.720000	0.68470	1.880000	0.54463	0.460000	0.39030	CGT		0.348	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		A	100208729	G	A	100208729	3	1	260	1	0	0	0	0	1	0	0	0	307	1058	37	2	1047	2	ADH1A	4	100208729	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	12117491	100208729	90945547	28	18546											
DCHS2	54798	broad.mit.edu	37	chr4	155241881	155241881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatgagaaatggattcGtgccagggttgtgggattca	9	11	17	4	1	1	1	1	1	0	1	2	5	1	4	1	5	1	1	1	5	1	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:155241881G>A	ENST00000357232.4	-	14	3304	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1102	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATGGATTCGTGCCAGGGTT	0.453																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3304-3306)aCg>aTg		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							358	386	377					4																	155241881		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241881G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3305C>T	4.37:g.155241881G>A	ENSP00000349768:p.Thr1102Met						p.T1102M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	13	3305	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1102			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3305C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	8.366	0.834163	0.16820	.	.	ENSG00000197410	ENST00000357232	T	0.52295	0.67	5.59	-2.19	0.07015	Cadherin (4);Cadherin-like (1);	1.812330	0.02632	N	0.104388	T	0.33585	0.0868	L	0.28649	0.875	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.17440	-1.0369	10	0.38643	T	0.18	.	5.0647	0.14576	0.3616:0.0:0.3583:0.2801	.	1102	Q6V1P9	PCD23_HUMAN	M	1102	ENSP00000349768:T1102M	ENSP00000349768:T1102M	T	-	2	0	DCHS2	155461331	0.000000	0.05858	0.004000	0.12327	0.614000	0.37383	0.106000	0.15354	-0.143000	0.11334	-0.339000	0.08088	ACG		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155241881	G	A	155241881	3	1	260	1	0	0	0	0	1	0	0	0	4288	1145	40	1	5493	1	DCHS2	4	155241881	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	55033152	155241881	35912395	29	18547											
TLL1	7092	broad.mit.edu	37	chr4	166964454	166964454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgagatacgtaaaaaTgaaggacagattcagtctcc	15	8	12	6	1	2	3	1	2	1	2	3	6	2	5	1	3	1	1	1	3	5	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:166964454T>C	ENST00000061240.2	+	12	2054	c.1407T>C	c.(1405-1407)aaT>aaC	p.N469N	TLL1_ENST00000507499.1_Silent_p.N469N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	469	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACGTAAAAATGAAGGACAGA	0.408																																						uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1405-1407)aaT>aaC		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							176	165	169					4																	166964454		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166964454T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1407T>C	4.37:g.166964454T>C						TLL1_uc011cjn.2_Silent_p.N469N|TLL1_uc011cjo.2_Silent_p.N293N	p.N469N	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	11	2054	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	469			CUB 2.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1407T>C	CCDS3811.1																																																																																				0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			C	166964454	T	C	166964454	2	2	260	1	0	0	0	0	0	0	0	1	15942	1461	51	4		4	TLL1	4	166964454	Silent	SNP	T	TCGA-76-4928-01B-01D-1486-08	11722573	166964454	24189822	30	18548											
GALNT7	51809	broad.mit.edu	37	chr4	174235303	174235303	+	Frame_Shift_Del	DEL	A	A	-																															acctcacactaccctttgccAcccaaaaatgttgactgggg																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:174235303delA	ENST00000265000.4	+	9	1667	c.1584delA	c.(1582-1584)ccafs	p.P529fs		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	529					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCCTTTGCCACCCAAAAATG	0.393																																						uc003isz.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1582-1584)ccafs		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.							101	98	99					4																	174235303		2203	4300	6503	SO:0001589	frameshift_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174235303delA	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1584delA	4.37:g.174235303delA	ENSP00000265000:p.Pro529fs					GALNT7_uc011ckb.2_Frame_Shift_Del_p.P305fs	p.P528fs	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	8	1667	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	528					B3KQU3|Q7Z5W7|Q9UJ28	Frame_Shift_Del	DEL	ENST00000265000.4	37	c.1584delA	CCDS3815.1																																																																																				0.393	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		-	174235303	A	-	174235303	7	5	260	1	0	1	0	1	0	0	0	0	6218	146	6	0	1618	0	GALNT7	4	174235303	Frame_Shift_Del	DEL	A	TCGA-76-4928-01B-01D-1486-08	7270849	174235303	16918973	31	18549											
ANKRD55	79722	broad.mit.edu	37	chr5	55407551	55407551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgagcacgttgaaccGtctctccttcttctggggcc	4	14	11	12	2	3	2	0	2	3	0	5	2	4	2	3	3	2	3	3	3	1	5	rs147414262	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:55407551G>A	ENST00000341048.4	-	10	1175	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R299W|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R54W|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	342										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACGTTGAACCGTCTCTCCTTC	0.512													G|||	4	0.000798722	0	0	5008	,	,		18418	0		0.004	False		,,,				2504	0					uc003jqu.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1024-1026)Cgg>Tgg		Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.		G	TRP/ARG	0,4406		0,0,2203	138	135	136		1024	3.5	0.4	5	dbSNP_134	136	12,8588		0,12,4288	yes	missense	ANKRD55	NM_024669.2	101	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	probably-damaging	342/615	55407551	12,12994	2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407551G>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1024C>T	5.37:g.55407551G>A	ENSP00000342295:p.Arg342Trp					ANKRD55_uc003jqt.3_Missense_Mutation_p.R54W	p.R342W	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			9	1176	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	341					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1024C>T	CCDS34161.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	.	18.16	3.561558	0.65538	0.0	0.001395	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.42900	1.21;0.96;1.13	5.49	3.53	0.40419	.	0.369832	0.23779	N	0.044647	T	0.39759	0.1090	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.996;0.999	P;P	0.61722	0.549;0.893	T	0.26643	-1.0097	10	0.72032	D	0.01	.	11.8153	0.52207	0.0:0.1025:0.6867:0.2108	.	342;341	B3KVT8;Q3KP44	.;ANR55_HUMAN	W	342;342;299;54	ENSP00000342295:R342W;ENSP00000424230:R299W;ENSP00000429421:R54W	ENSP00000342295:R342W	R	-	1	2	ANKRD55	55443308	0.001000	0.12720	0.377000	0.26055	0.934000	0.57294	0.417000	0.21214	1.416000	0.47057	0.650000	0.86243	CGG		0.512	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		A	55407551	G	A	55407551	3	1	260	1	0	0	0	0	1	0	0	0	681	1144	40	1	832	1	ANKRD55	5	55407551	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		55407551	125507709	32	18550											
FBN2	2201	broad.mit.edu	37	chr5	127729056	127729056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatgcaaagtctgcgatAttcctctagaagaaaagaaa	17	9	7	8	1	2	3	0	0	2	3	4	4	4	3	2	0	2	1	2	0	7	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:127729056A>G	ENST00000508053.1	-	16	2211	c.1237T>C	c.(1237-1239)Tat>Cat	p.Y413H	FBN2_ENST00000508989.1_Missense_Mutation_p.Y380H|FBN2_ENST00000262464.4_Missense_Mutation_p.Y413H			P35556	FBN2_HUMAN	fibrillin 2	413	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTCTGCGATATTCCTCTAGA	0.473																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1237-1239)Tat>Cat		Homo sapiens fibrillin 2 (FBN2), mRNA.							53	50	51					5																	127729056		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127729056A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1237T>C	5.37:g.127729056A>G	ENSP00000424571:p.Tyr413His					FBN2_uc003kuv.2_Missense_Mutation_p.Y380H	p.Y413H	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1676	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	413			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1237T>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446378	0.25987	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.94537	-3.45;-3.45;-3.45	4.11	1.74	0.24563	Matrix fibril-associated (2);TGF-beta binding (1);	0.195249	0.34484	N	0.003932	D	0.89283	0.6671	L	0.39514	1.22	0.34982	D	0.754214	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.007	D	0.84474	0.0601	10	0.38643	T	0.18	.	8.0533	0.30591	0.7255:0.0:0.2745:0.0	.	380;413	D6RJI3;P35556	.;FBN2_HUMAN	H	413;413;380	ENSP00000262464:Y413H;ENSP00000424571:Y413H;ENSP00000425596:Y380H	ENSP00000262464:Y413H	Y	-	1	0	FBN2	127756955	0.993000	0.37304	0.768000	0.31515	0.221000	0.24807	2.412000	0.44609	0.387000	0.25024	0.533000	0.62120	TAT		0.473	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		G	127729056	A	G	127729056	3	3	260	1	0	0	0	0	1	0	0	0	5703	449	16	4	7725	4	FBN2	5	127729056	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	72321505	127729056	53186204	33	18551											
SPOCK1	6695	broad.mit.edu	37	chr5	136314406	136314406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcatcctctgtcacGgctcgggtgtgcaccctcag	5	11	9	16	2	5	0	4	0	1	0	8	0	7	0	3	2	1	2	3	2	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:136314406G>A	ENST00000394945.1	-	11	1426	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Silent_p.A419A	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	419					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTCTGTCACGGCTCGGGTGT	0.522																																						uc003lbo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(1255-1257)gcC>gcT		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.							248	199	216					5																	136314406		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136314406G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1257C>T	5.37:g.136314406G>A						SPOCK1_uc003lbp.3_Silent_p.A419A	p.A419A	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1448	-			419					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.1257C>T	CCDS4191.1																																																																																				0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136314406	G	A	136314406	2	1	260	1	0	0	0	0	0	0	0	1	15078	1103	39	2		2	SPOCK1	5	136314406	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	8585350	136314406	44600854	34	18552											
PCDHA2	56146	broad.mit.edu	37	chr5	140174848	140174848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtgcgggcggagcgCggaatgtagcatccacgtgg	7	6	19	9	5	0	0	0	0	0	0	1	3	1	3	1	5	4	3	1	5	2	1	rs376518025		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140174848C>T	ENST00000526136.1	+	1	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A100V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A100V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAATGTAGC	0.542																																						uc003lhd.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(298-300)gCg>gTg		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.							107	121	117					5																	140174848		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140174848C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.299C>T	5.37:g.140174848C>T	ENSP00000431748:p.Ala100Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A100V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A100V	p.A100V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	405	+			115			Cadherin 1.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.299C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	10.09	1.254927	0.22965	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39592	1.07;1.07;1.07	3.98	-1.03	0.10102	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.650048	0.12175	U	0.492616	T	0.24851	0.0603	L	0.35288	1.05	0.09310	N	1	B;B;B	0.33826	0.427;0.293;0.427	B;B;B	0.28011	0.051;0.012;0.085	T	0.09684	-1.0663	10	0.42905	T	0.14	.	5.5556	0.17115	0.0:0.411:0.2253:0.3637	.	100;100;100	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	100	ENSP00000430584:A100V;ENSP00000367372:A100V;ENSP00000431748:A100V	ENSP00000367372:A100V	A	+	2	0	PCDHA2	140155032	0.000000	0.05858	0.958000	0.39756	0.551000	0.35334	-2.232000	0.01205	-0.358000	0.08162	-0.147000	0.13772	GCG		0.542	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140174848	C	T	140174848	3	4	260	1	0	0	0	0	1	0	0	0	11524	768	27	1	301	1	PCDHA2	5	140174848	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	3860442	140174848	40740412	35	18553											
PCDHB6	56130	broad.mit.edu	37	chr5	140531524	140531524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccttcgtgttgtacccGctgcagaacggctccgcgcc	4	9	11	17	6	0	1	0	0	0	1	3	1	1	1	4	1	3	5	4	1	2	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140531524G>A	ENST00000231136.1	+	1	1686	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P	PCDHB6_ENST00000543635.1_Silent_p.P426P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	562					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTGTACCCGCTGCAGAACG	0.726																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1684-1686)ccG>ccA		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							23	30	27					5																	140531524		2183	4289	6472	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531524G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1686G>A	5.37:g.140531524G>A							p.P562P	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1686	+			562					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1686G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	6.414	0.444541	0.12164	.	.	ENSG00000113211	ENST00000542861	.	.	.	4.19	-1.37	0.09056	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.52510	-0.8566	5	0.87932	D	0	.	0.7677	0.01018	0.2461:0.182:0.3513:0.2206	.	.	.	.	H	347	.	ENSP00000438850:R347H	R	+	2	0	PCDHB6	140511708	0.000000	0.05858	0.995000	0.50966	0.963000	0.63663	-4.893000	0.00173	0.036000	0.15547	-0.222000	0.12452	CGC		0.726	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		A	140531524	G	A	140531524	2	1	260	1	0	0	0	0	0	0	0	1	11546	1074	38	1		1	PCDHB6	5	140531524	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	356676	140531524	40383736	36	18554											
UNC5A	90249	broad.mit.edu	37	chr5	176301280	176301280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaacccccatctgcTcaccatccagccggacctca	10	6	6	19	1	3	1	2	0	1	1	4	2	4	2	6	1	4	2	6	1	1	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:176301280T>C	ENST00000329542.4	+	8	1365	c.1091T>C	c.(1090-1092)cTc>cCc	p.L364P	UNC5A_ENST00000261961.3_Missense_Mutation_p.L324P	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	364					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCATCTGCTCACCATCCAG	0.642																																						uc003mey.3																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1090-1092)cTc>cCc		Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.							73	75	74					5																	176301280		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301280T>C	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1091T>C	5.37:g.176301280T>C	ENSP00000332737:p.Leu364Pro					UNC5A_uc010jkg.1_Missense_Mutation_p.L324P	p.L364P	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1283	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	364					B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1091T>C	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755218	0.69648	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.71222	-0.55;-0.17	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.85387	0.1123	10	0.87932	D	0	-34.7285	15.5642	0.76277	0.0:0.0:0.0:1.0	.	324;364	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	P	364;324	ENSP00000332737:L364P;ENSP00000261961:L324P	ENSP00000261961:L324P	L	+	2	0	UNC5A	176233886	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.066000	0.71185	2.095000	0.63458	0.397000	0.26171	CTC		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		C	176301280	T	C	176301280	3	2	260	1	0	0	0	0	1	0	0	0	16988	1551	54	4	1121	4	UNC5A	5	176301280	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	35769756	176301280	4613980	37	18555											
SKIV2L	6499	broad.mit.edu	37	chr6	31936254	31936254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgggctccgggcccGgaagctggaggagctgatcc	7	5	19	10	2	0	2	0	1	0	1	2	5	2	5	3	6	2	3	3	6	1	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:31936254G>A	ENST00000375394.2	+	24	3121	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R810Q|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1003					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCGGGCCCGGAAGCTGGAG	0.632																																						uc003nyn.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3007-3009)cGg>cAg		Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.							32	40	37					6																	31936254		1508	2707	4215	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936254G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3008G>A	6.37:g.31936254G>A	ENSP00000364543:p.Arg1003Gln					SKIV2L_uc011dou.1_Missense_Mutation_p.R845Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R810Q|STK19_uc003nyt.3_5'Flank	p.R1003Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			23	3397	+			1003					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3008G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312193	0.40895	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.14	4.27	0.50696	.	0.174489	0.51477	D	0.000087	T	0.21590	0.0520	L	0.44542	1.39	0.44807	D	0.997811	P	0.51351	0.944	B	0.41135	0.348	T	0.02885	-1.1098	10	0.23891	T	0.37	-14.7609	9.3184	0.37948	0.1684:0.0:0.8316:0.0	.	1003	Q15477	SKIV2_HUMAN	Q	1003;845;810	ENSP00000364543:R1003Q;ENSP00000442645:R810Q	ENSP00000364543:R1003Q	R	+	2	0	SKIV2L	32044233	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.305000	0.65750	1.297000	0.44761	0.655000	0.94253	CGG		0.632	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31936254	G	A	31936254	3	1	260	1	0	0	0	0	1	0	0	0	14359	1116	39	2	3102	2	SKIV2L	6	31936254	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		31936254	139178813	38	18556											
DNAH8	1769	broad.mit.edu	37	chr6	38903432	38903432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataagcggaagatgaaagAacttgaagataacctcctct	17	9	8	7	1	1	5	0	2	1	3	2	6	2	6	2	1	3	0	2	1	7	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:38903432A>G	ENST00000359357.3	+	75	11125	c.10871A>G	c.(10870-10872)gAa>gGa	p.E3624G	RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3841G|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3588G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3624	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATGAAAGAACTTGAAGAT	0.308																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11521-11523)gAa>gGa		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							153	171	165					6																	38903432		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38903432A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10871A>G	6.37:g.38903432A>G	ENSP00000352312:p.Glu3624Gly					DNAH8_uc003ooe.2_Missense_Mutation_p.E3624G|DNAH8_uc003oog.1_Missense_Mutation_p.E73G|LOC100131047_uc003oof.2_Intron	p.E3841G	NM_001206927	NP_001193856					76	11631	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11522A>G		.	.	.	.	.	.	.	.	.	.	A	27.0	4.795553	0.90453	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55588	0.51;0.51;0.51	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.77613	-0.2522	10	0.66056	D	0.02	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	3588;3624	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	G	3829;3829;3624;3588	ENSP00000333363:E3829G;ENSP00000352312:E3624G;ENSP00000402294:E3588G	ENSP00000333363:E3829G	E	+	2	0	DNAH8	39011410	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.165000	0.89663	2.289000	0.77006	0.482000	0.46254	GAA		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38903432	A	G	38903432	3	3	260	1	0	0	0	0	1	0	0	0	4607	246	9	4	11161	4	DNAH8	6	38903432	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	6967178	38903432	132211635	39	18557											
PKHD1	5314	broad.mit.edu	37	chr6	51497434	51497434	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaggccacagaggacAgggaagcagccaggatgatg	13	3	16	9	0	0	3	0	2	0	1	0	6	0	6	3	4	2	1	3	4	1	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:51497434A>T	ENST00000371117.3	-	65	11869	c.11594T>A	c.(11593-11595)cTg>cAg	p.L3865Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3865					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAGAGGACAGGGAAGCAGC	0.478																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11593-11595)cTg>cAg		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							98	92	94					6																	51497434		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51497434A>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11594T>A	6.37:g.51497434A>T	ENSP00000360158:p.Leu3865Gln						p.L3865Q	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			64	11870	-	Lung NSC(77;0.0605)		3865					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11594T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148037	0.78001	.	.	ENSG00000170927	ENST00000371117	D	0.90676	-2.71	5.46	5.46	0.80206	.	0.239317	0.28549	N	0.014949	D	0.90854	0.7127	M	0.66939	2.045	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	D	0.91270	0.5043	10	0.51188	T	0.08	.	12.9177	0.58214	1.0:0.0:0.0:0.0	.	3865	P08F94	PKHD1_HUMAN	Q	3865	ENSP00000360158:L3865Q	ENSP00000360158:L3865Q	L	-	2	0	PKHD1	51605393	0.801000	0.28930	0.739000	0.30968	0.834000	0.47266	3.264000	0.51553	2.078000	0.62432	0.528000	0.53228	CTG		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51497434	A	T	51497434	3	4	260	1	0	0	0	0	1	0	0	0	11971	188	7	5	642	5	PKHD1	6	51497434	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	12594002	51497434	119617633	40	18558											
DLL1	28514	broad.mit.edu	37	chr6	170592139	170592140	+	Frame_Shift_Ins	INS	-	-	TC																															acaccgactggtacttggtgINStcttttgaagttgaacagcc																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:170592139_170592140insTC	ENST00000366756.3	-	10	2435_2436	c.2102_2103insGA	c.(2101-2103)gacfs	p.D701fs		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	701					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTACTTGGTGTCTTTTGAAGT	0.485																																						uc003qxm.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(2101-2103)gacfs		Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.																																				SO:0001589	frameshift_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592139_170592140insTC	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.2101_2102dupGA	6.37:g.170592140_170592141dupTC	ENSP00000355718:p.Asp701fs						p.D701fs	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2572_2573	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	701					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Frame_Shift_Ins	INS	ENST00000366756.3	37	c.2102_2103insGA	CCDS5313.1																																																																																				0.485	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			TC	170592140	-	TC	170592139	7	5	260	1	0	1	1	0	0	0	0	0	4566	1368	48	0	76	0	DLL1	6	170592139	Frame_Shift_Ins	INS	-	TCGA-76-4928-01B-01D-1486-08	119094705	170592139	522928	41	18559											
ZNF679	168417	broad.mit.edu	37	chr7	63709526	63709526	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggatcccctggaagcCgagaaatggtgagtgctggg	9	6	17	9	2	0	2	0	1	0	1	1	6	1	4	4	4	2	1	4	4	2	0	rs191648017	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:63709526C>A	ENST00000421025.1	+	2	300	c.31C>A	c.(31-33)Cga>Aga	p.R11R	ZNF679_ENST00000255746.4_Silent_p.R11R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTGGAAGCCGAGAAATGGT	0.572													.|||	10	0.00199681	0.0068	0.0014	5008	,	,		19216	0		0	False		,,,				2504	0					uc003tsx.3																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(31-33)Cga>Aga		Homo sapiens zinc finger protein 679 (ZNF679), mRNA.		C		6,1378		0,6,686	47	39	42		31	0.4	0	7		42	1,3181		0,1,1590	no	coding-synonymous	ZNF679	NM_153363.2		0,7,2276	AA,AC,CC		0.0314,0.4335,0.1533		11/412	63709526	7,4559	692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63709526C>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.31C>A	7.37:g.63709526C>A							p.R11R	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			1	300	+			11						Silent	SNP	ENST00000421025.1	37	c.31C>A	CCDS47592.1																																																																																				0.572	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63709526	C	A	63709526	2	1	260	1	0	0	0	0	0	0	0	1	18083	644	23	5		5	ZNF679	7	63709526	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08		63709526	95429137	42	18560											
GATS	352954	broad.mit.edu	37	chr7	99821643	99821643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaccgccggacaccacGttcagggccagccaggtggc	7	4	13	17	3	1	0	1	0	0	0	1	1	1	1	6	4	2	1	6	4	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:99821643G>A	ENST00000436886.2	-	3	521	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	91										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGACACCACGTTCAGGGCCA	0.622																																						uc003uua.4																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(271-273)aaC>aaT		Homo sapiens GATS, stromal antigen 3 opposite strand (GATS), transcript variant 1, mRNA.							59	69	66					7																	99821643		2086	4207	6293	SO:0001819	synonymous_variant	352954							g.chr7:99821643G>A	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"stromal antigen 3 opposite strand"					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.273C>T	7.37:g.99821643G>A						GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc011kjl.2_5'Flank|GATS_uc010lgu.2_Non-coding_Transcript	p.N91N	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			2	522	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		91					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	ENST00000436886.2	37	c.273C>T	CCDS43621.1																																																																																				0.622	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		A	99821643	G	A	99821643	2	1	260	1	0	0	0	0	0	0	0	1	6264	1136	40	1		1	GATS	7	99821643	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	36112117	99821643	59317020	43	18561											
C7orf53	286006	broad.mit.edu	37	chr7	112129963	112129963	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaataacatgatcgtaaagCgactcaaccaactcaaccaa	18	7	4	12	2	3	1	3	1	0	0	4	2	3	1	2	0	5	1	2	0	8	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:112129963C>T	ENST00000312849.4	+	4	716	c.355C>T	c.(355-357)Cga>Tga	p.R119*	LSMEM1_ENST00000439068.2_Nonsense_Mutation_p.R119*|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	119						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GATCGTAAAGCGACTCAACCA	0.388																																						uc011kmq.2																			0				endometrium(1)|large_intestine(2)|ovary(1)	4						c.(355-357)Cga>Tga		Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.							165	152	157					7																	112129963		2203	4300	6503	SO:0001587	stop_gained	286006					integral to membrane		g.chr7:112129963C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 53"	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.355C>T	7.37:g.112129963C>T	ENSP00000323304:p.Arg119*					C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Nonsense_Mutation_p.R119*	p.R119*	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN			3	490	+			119					Q49AR6	Nonsense_Mutation	SNP	ENST00000312849.4	37	c.355C>T	CCDS5756.1	.	.	.	.	.	.	.	.	.	.	C	38	6.724806	0.97792	.	.	ENSG00000181016	ENST00000439068;ENST00000312849	.	.	.	5.69	4.79	0.61399	.	0.503387	0.18416	N	0.141914	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.909	11.8798	0.52568	0.1744:0.8256:0.0:0.0	.	.	.	.	X	119	.	ENSP00000323304:R119X	R	+	1	2	C7orf53	111917199	0.999000	0.42202	0.850000	0.33497	0.465000	0.32709	0.757000	0.26433	1.356000	0.45884	0.591000	0.81541	CGA		0.388	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		T	112129963	C	T	112129963	4	4	260	1	0	0	0	0	0	1	0	0	2402	760	27	1	365	1	C7orf53	7	112129963	Nonsense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	12308320	112129963	47008700	44	18562											
PLXNA4	91584	broad.mit.edu	37	chr7	131817922	131817922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcgttcatgtcttggtcGctgatggctggcatcttccc	4	15	11	11	2	3	1	1	1	2	0	5	1	4	1	1	3	1	4	1	3	1	4	rs114567124	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:131817922G>A	ENST00000359827.3	-	31	6437	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_ENST00000321063.4_Silent_p.S1825S			Q9HCM2	PLXA4_HUMAN	plexin A4	1825					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		18377	0		0	False		,,,				2504	0					uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5473-5475)agC>agT		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131817922G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5475C>T	7.37:g.131817922G>A						PLXNA4_uc003vqz.4_Silent_p.S110S	p.S1825S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			30	5704	-			1825					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5475C>T	CCDS43646.1																																																																																				0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131817922	G	A	131817922	2	1	260	1	0	0	0	0	0	0	0	1	12122	1078	38	1		1	PLXNA4	7	131817922	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	19687959	131817922	27320741	45	18563											
SVOPL	136306	broad.mit.edu	37	chr7	138305867	138305867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccaaagcgcgcatcGtggtggggtagacctgcagg	8	6	14	13	3	0	1	0	0	0	1	2	1	1	1	4	4	2	3	4	4	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:138305867G>A	ENST00000419765.3	-	13	1310	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.T274M|SVOPL_ENST00000421622.1_Missense_Mutation_p.T306M|SVOPL_ENST00000288513.5_Missense_Mutation_p.T274M	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	426						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGCGCGCATCGTGGTGGGGTA	0.597																																						uc011kqh.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(1276-1278)aCg>aTg		Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.							58	45	50					7																	138305867		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305867G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1277C>T	7.37:g.138305867G>A	ENSP00000405482:p.Thr426Met					SVOPL_uc003vue.3_Missense_Mutation_p.T274M	p.T426M	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			12	1277	-			426						Missense_Mutation	SNP	ENST00000419765.3	37	c.1277C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	7.070	0.568152	0.13560	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.32	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.899902	0.09868	N	0.745250	T	0.44138	0.1279	N	0.21282	0.65	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.11329	0.003;0.006	T	0.29912	-0.9996	10	0.33141	T	0.24	-3.3998	10.1323	0.42687	0.1524:0.0:0.8476:0.0	.	426;274	Q8N434;Q8N434-2	SVOPL_HUMAN;.	M	274;306;274;426	ENSP00000288513:T274M;ENSP00000412830:T306M;ENSP00000417018:T274M;ENSP00000405482:T426M	ENSP00000288513:T274M	T	-	2	0	SVOPL	137956407	0.103000	0.21917	0.040000	0.18447	0.546000	0.35178	2.773000	0.47686	1.245000	0.43885	0.650000	0.86243	ACG		0.597	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		A	138305867	G	A	138305867	3	1	260	1	0	0	0	0	1	0	0	0	15421	1145	40	1	213	1	SVOPL	7	138305867	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	6487945	138305867	20832796	46	18564											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	260	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	2147269	140453136	18685527	47	18565											
C7orf33	202865	broad.mit.edu	37	chr7	148288176	148288176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggtccacgttaggggCggtccaggtcaatttaactt	7	13	13	8	2	1	0	1	0	0	0	3	0	3	0	2	5	1	2	2	5	3	5	rs549712040		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:148288176C>T	ENST00000307003.2	+	1	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	53								p.G53G(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512																																						uc003wew.3																			1	Substitution - coding silent(1)	p.G53G(2)|p.G53C(1)	prostate(1)	central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(157-159)ggC>ggT		Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.							100	82	88					7																	148288176		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148288176C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.159C>T	7.37:g.148288176C>T							p.G53G	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		0	520	+	Melanoma(164;0.15)		53						Silent	SNP	ENST00000307003.2	37	c.159C>T	CCDS5890.1																																																																																				0.512	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		T	148288176	C	T	148288176	2	4	260	1	0	0	0	0	0	0	0	1	2388	755	27	1		1	C7orf33	7	148288176	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	7835040	148288176	10850487	48	18566											
NPBWR1	2831	broad.mit.edu	37	chr8	53853296	53853296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggtggcgctcaccAccgacctcccgcagacgccg	6	4	12	19	6	1	1	1	0	0	1	2	2	2	1	6	2	0	3	6	2	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:53853296A>G	ENST00000331251.3	+	1	2306	c.829A>G	c.(829-831)Acc>Gcc	p.T277A		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	277					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GGCGCTCACCACCGACCTCCC	0.642																																						uc011ldu.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(829-831)Acc>Gcc		Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.							57	43	48					8																	53853296		2203	4300	6503	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853296A>G	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.829A>G	8.37:g.53853296A>G	ENSP00000330284:p.Thr277Ala						p.T277A	NM_005285	NP_005276	P48145	NPBW1_HUMAN			0	829	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	277					Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.829A>G	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	a	13.69	2.311728	0.40895	.	.	ENSG00000183729	ENST00000331251	T	0.71341	-0.56	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.356790	0.22223	N	0.062923	T	0.62696	0.2449	L	0.38175	1.15	0.40599	D	0.98156	B	0.33288	0.406	B	0.40825	0.341	T	0.54840	-0.8233	10	0.15499	T	0.54	.	11.0984	0.48160	0.9269:0.0:0.0731:0.0	.	277	P48145	NPBW1_HUMAN	A	277	ENSP00000330284:T277A	ENSP00000330284:T277A	T	+	1	0	NPBWR1	54015849	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	4.227000	0.58612	0.978000	0.38470	0.454000	0.30748	ACC		0.642	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		G	53853296	A	G	53853296	3	3	260	1	0	0	0	0	1	0	0	0	10568	159	6	4	831	4	NPBWR1	8	53853296	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08		53853296	92510726	49	18567											
KCNS2	3788	broad.mit.edu	37	chr8	99441064	99441064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggagagcacacctaCtttagccaacttgggcaggg	9	8	15	9	0	0	1	0	0	0	1	0	2	0	1	2	5	4	2	2	5	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:99441064C>A	ENST00000287042.4	+	2	1207	c.857C>A	c.(856-858)aCt>aAt	p.T286N	KCNS2_ENST00000521839.1_Missense_Mutation_p.T286N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	286					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGCACACCTACTTTAGCCAAC	0.557																																					Pancreas(138;844 2489 9202 24627)	uc003yin.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(856-858)aCt>aAt		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.							145	139	141					8																	99441064		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441064C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.857C>A	8.37:g.99441064C>A	ENSP00000287042:p.Thr286Asn					KCNS2_uc022azb.1_Missense_Mutation_p.T286N	p.T286N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		1	1207	+	Breast(36;2.4e-06)		286					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.857C>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425350	0.25639	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96554	-4.05;-4.05	5.83	5.83	0.93111	Ion transport (1);	0.293457	0.38381	N	0.001712	D	0.90504	0.7025	N	0.04787	-0.16	0.26089	N	0.980981	P	0.37176	0.586	B	0.34093	0.175	T	0.81695	-0.0816	10	0.26408	T	0.33	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	286	Q9ULS6	KCNS2_HUMAN	N	286	ENSP00000287042:T286N;ENSP00000430712:T286N	ENSP00000287042:T286N	T	+	2	0	KCNS2	99510240	0.999000	0.42202	0.333000	0.25482	0.985000	0.73830	4.692000	0.61746	2.769000	0.95229	0.655000	0.94253	ACT		0.557	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		A	99441064	C	A	99441064	3	1	260	1	0	0	0	0	1	0	0	0	8089	565	20	5	859	5	KCNS2	8	99441064	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	45587768	99441064	46922958	50	18568											
FBP1	2203	broad.mit.edu	37	chr9	97367792	97367792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaatatccctccgtagaCcagagtgcgatgaacatcag	14	7	9	11	2	1	4	1	1	0	3	3	5	3	4	3	0	2	1	3	0	4	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:97367792C>A	ENST00000375326.4	-	6	968	c.772G>T	c.(772-774)Gtc>Ttc	p.V258F	FBP1_ENST00000415431.1_Missense_Mutation_p.V258F	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	258					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCTCCGTAGACCAGAGTGCGA	0.512																																					Ovarian(142;590 2466 25593 44496)	uc004auw.4																			0				kidney(1)|liver(1)|lung(1)	3						c.(772-774)Gtc>Ttc		Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						92	76	81					9																	97367792		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97367792C>A	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.772G>T	9.37:g.97367792C>A	ENSP00000364475:p.Val258Phe					FBP1_uc010mrl.3_Missense_Mutation_p.V258F	p.V258F	NM_000507	NP_001121100	P09467	F16P1_HUMAN			5	1103	-		Acute lymphoblastic leukemia(62;0.136)	258					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.772G>T	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177556	0.57692	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	T;T	0.75260	-0.92;-0.92	5.75	5.75	0.90469	.	0.051327	0.85682	D	0.000000	D	0.83797	0.5332	M	0.77486	2.375	0.80722	D	1	D	0.58268	0.982	P	0.53809	0.735	D	0.85421	0.1143	10	0.72032	D	0.01	-36.9796	19.9325	0.97124	0.0:1.0:0.0:0.0	.	258	P09467	F16P1_HUMAN	F	258	ENSP00000364475:V258F;ENSP00000408025:V258F	ENSP00000364475:V258F	V	-	1	0	FBP1	96407613	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	3.114000	0.50383	2.703000	0.92315	0.650000	0.86243	GTC		0.512	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		A	97367792	C	A	97367792	3	1	260	1	0	0	0	0	1	0	0	0	5705	507	18	5	252	5	FBP1	9	97367792	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		97367792	43845639	51	18569											
LHX2	9355	broad.mit.edu	37	chr9	126794913	126794913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgacgtccgtcttaaCttctgtgcctggcaacctgg	7	12	10	12	2	2	1	0	1	2	0	3	1	3	1	3	2	4	1	3	2	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:126794913C>T	ENST00000373615.4	+	5	1887	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	383					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCCGTCTTAACTTCTGTGCCT	0.592																																						uc010mwi.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(1171-1173)aCt>aTt		Homo sapiens LIM homeobox 2 (LHX2), mRNA.							96	90	92					9																	126794913		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794913C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1148C>T	9.37:g.126794913C>T	ENSP00000362717:p.Thr383Ile					LHX2_uc004boe.1_Missense_Mutation_p.T383I	p.T391I	NM_004789	NP_004780	P50458	LHX2_HUMAN			4	1911	+			383	GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).				O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1172C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612016	0.66558	.	.	ENSG00000106689	ENST00000373615	D	0.84223	-1.82	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	L	0.29908	0.895	0.44295	D	0.997165	D;D	0.71674	0.996;0.998	P;D	0.80764	0.901;0.994	D	0.88126	0.2835	10	0.49607	T	0.09	.	15.0999	0.72266	0.1426:0.8574:0.0:0.0	.	383;383	B3KNJ5;P50458	.;LHX2_HUMAN	I	383	ENSP00000362717:T383I	ENSP00000362717:T383I	T	+	2	0	LHX2	125834734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.746000	0.68681	1.359000	0.45940	0.561000	0.74099	ACT		0.592	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			T	126794913	C	T	126794913	3	4	260	1	0	0	0	0	1	0	0	0	8771	565	20	3	1166	3	LHX2	9	126794913	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	29427121	126794913	14418518	52	18570											
PNPLA7	375775	broad.mit.edu	37	chr9	140374853	140374853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtccagggtgtgagcgTgccatctacctggtagagca	7	9	15	10	1	1	2	0	1	1	1	2	2	2	2	3	3	4	2	3	3	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:140374853T>C	ENST00000277531.4	-	22	2602	c.2416A>G	c.(2416-2418)Acg>Gcg	p.T806A	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.T831A|PNPLA7_ENST00000371457.1_Missense_Mutation_p.T412A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	806					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTGTGAGCGTGCCATCTACC	0.662																																						uc010ncj.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2491-2493)Acg>Gcg		Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.							73	55	61					9																	140374853		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374853T>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2416A>G	9.37:g.140374853T>C	ENSP00000277531:p.Thr806Ala					PNPLA7_uc004cnd.1_Missense_Mutation_p.T72A|PNPLA7_uc004cne.1_Missense_Mutation_p.T72A|PNPLA7_uc011mfa.1_Missense_Mutation_p.T214A|PNPLA7_uc004cnf.2_Missense_Mutation_p.T806A	p.T831A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	22	2828	-	all_cancers(76;0.126)		806					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2491A>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	T	3.619	-0.077991	0.07184	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.92	1.13	0.20643	.	0.173838	0.50627	D	0.000108	T	0.24890	0.0604	L	0.52823	1.66	0.32309	N	0.56399	B;B;B;B	0.22346	0.068;0.057;0.02;0.0	B;B;B;B	0.27796	0.024;0.083;0.024;0.003	T	0.13791	-1.0496	10	0.40728	T	0.16	-16.342	4.8306	0.13437	0.424:0.0786:0.0:0.4973	.	214;831;806;72	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	A	412;214;806;831;806;797	ENSP00000360512:T412A;ENSP00000360501:T214A;ENSP00000277531:T806A;ENSP00000384610:T831A;ENSP00000400582:T797A	ENSP00000277531:T806A	T	-	1	0	PNPLA7	139494674	0.998000	0.40836	0.357000	0.25798	0.060000	0.15804	0.758000	0.26447	-0.052000	0.13311	-0.991000	0.02546	ACG		0.662	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		C	140374853	T	C	140374853	3	2	260	1	0	0	0	0	1	0	0	0	12170	1696	59	4	1589	4	PNPLA7	9	140374853	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	13579940	140374853	838578	53	18571											
FAM196A	642938	broad.mit.edu	37	chr10	128974485	128974485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctgtgtgtccctctGctcattctgtgcctcgcaga	5	12	11	13	1	3	1	1	0	2	1	5	2	4	2	2	1	3	3	2	1	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr10:128974485G>A	ENST00000522781.1	-	4	730	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Q59*	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	59										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTGTCCCTCTGCTCATTCTGT	0.587																																						uc001lju.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(175-177)Cag>Tag		Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.							117	114	115					10																	128974485		2203	4300	6503	SO:0001587	stop_gained	642938							g.chr10:128974485G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.175C>T	10.37:g.128974485G>A	ENSP00000429763:p.Gln59*					DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Q59*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Q59*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Q59*	p.Q59*	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			0	216	-			59					B2RNT4|B7ZME7	Nonsense_Mutation	SNP	ENST00000522781.1	37	c.175C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	43	10.040015	0.99323	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	.	.	.	5.32	5.32	0.75619	.	0.058451	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.3815	0.94540	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000428730:Q59X	Q	-	1	0	FAM196A	128864475	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.476000	0.97823	2.655000	0.90218	0.462000	0.41574	CAG		0.587	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		A	128974485	G	A	128974485	4	1	260	1	0	0	0	0	0	1	0	0	5528	1328	46	3	1276	3	FAM196A	10	128974485	Nonsense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		128974485	6560262	54	18572											
LUZP2	338645	broad.mit.edu	37	chr11	25100153	25100153	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaaaaagccccagaaaaAccattgaccagctttgaagg	17	6	9	9	0	0	4	0	3	0	1	0	4	0	4	4	1	3	1	4	1	6	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:25100153A>G	ENST00000336930.6	+	12	1056	c.990A>G	c.(988-990)aaA>aaG	p.K330K	LUZP2_ENST00000533227.1_Silent_p.K244K			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	330						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCCCAGAAAAACCATTGACCA	0.348																																						uc001mqs.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(988-990)aaA>aaG		Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.							85	90	88					11																	25100153		2203	4300	6503	SO:0001819	synonymous_variant	338645					extracellular region		g.chr11:25100153A>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.990A>G	11.37:g.25100153A>G						LUZP2_uc009yif.3_Silent_p.K244K|LUZP2_uc009yig.3_Silent_p.K288K	p.K330K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			11	1264	+			330					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	c.990A>G	CCDS31446.1																																																																																				0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		G	25100153	A	G	25100153	2	3	260	1	0	0	0	0	0	0	0	1	9087	40	2	4		4	LUZP2	11	25100153	Silent	SNP	A	TCGA-76-4928-01B-01D-1486-08		25100153	109906363	55	18573											
SPRYD5	84767	broad.mit.edu	37	chr11	55655555	55655555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagctgaatatcagaaGatgcctgcatttctccatga	13	11	8	9	0	3	5	2	2	1	3	4	5	3	5	2	0	3	2	2	0	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:55655555G>T	ENST00000449290.2	+	4	647	c.555G>T	c.(553-555)aaG>aaT	p.K185N	TRIM51_ENST00000244891.3_Missense_Mutation_p.K42N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	185						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AATATCAGAAGATGCCTGCAT	0.398																																						uc010rip.2																			0											c.(553-555)aaG>aaT		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							31	31	31					11																	55655555		2200	4290	6490	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655555G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.555G>T	11.37:g.55655555G>T	ENSP00000395086:p.Lys185Asn					TRIM51_uc010riq.2_Missense_Mutation_p.K42N	p.K185N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	647	+			185					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.555G>T		.	.	.	.	.	.	.	.	.	.	.	3.640	-0.073683	0.07184	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	.	.	.	.	.	.	.	.	T	0.20414	0.0491	M	0.92367	3.3	0.09310	N	1	P	0.39157	0.662	B	0.42163	0.378	T	0.10636	-1.0621	7	0.59425	D	0.04	.	.	.	.	.	185	Q9BSJ1	SPRY5_HUMAN	N	185;42	ENSP00000395086:K185N;ENSP00000244891:K42N	ENSP00000244891:K42N	K	+	3	2	SPRYD5	55412131	0.008000	0.16893	0.010000	0.14722	0.595000	0.36748	-0.133000	0.10451	-0.673000	0.05259	0.152000	0.16155	AAG		0.398	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55655555	G	T	55655555	3	4	260	1	0	0	0	0	1	0	0	0	15110	933	33	5	565	5	SPRYD5	11	55655555	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	30555402	55655555	79350961	56	18574											
ARHGAP20	57569	broad.mit.edu	37	chr11	110495025	110495025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattttttatcttaaagtTattgttatatctagaaagat	13	22	4	2	0	2	2	0	0	2	2	2	2	2	2	0	0	0	2	0	0	9	11			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:110495025T>C	ENST00000260283.4	-	5	648	c.364A>G	c.(364-366)Aac>Gac	p.N122D	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.N86D|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.N99D|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.N86D|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.N96D|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.N96D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	122	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		atCTTAAAGTTATTGTTATAT	0.333																																						uc001pkz.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(364-366)Aac>Gac		Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.							18	20	19					11																	110495025		2192	4290	6482	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110495025T>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.364A>G	11.37:g.110495025T>C	ENSP00000260283:p.Asn122Asp					ARHGAP20_uc001pky.1_Missense_Mutation_p.N99D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.N86D|ARHGAP20_uc001pla.1_Missense_Mutation_p.N86D	p.N122D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	4	649	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	122			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.364A>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.035967	0.19590	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	6.02	3.56	0.40772	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.422405	0.29233	N	0.012748	T	0.20861	0.0502	L	0.34521	1.04	0.26043	N	0.981584	B;B	0.30146	0.177;0.27	B;B	0.26693	0.033;0.072	T	0.16512	-1.0400	10	0.62326	D	0.03	.	7.5521	0.27804	0.1406:0.0:0.1467:0.7127	.	122;99	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	122;96;99;86;96;86	ENSP00000260283:N122D;ENSP00000349660:N96D;ENSP00000432076:N99D;ENSP00000436319:N86D;ENSP00000436522:N96D;ENSP00000431399:N86D	ENSP00000260283:N122D	N	-	1	0	ARHGAP20	110000235	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	1.369000	0.34227	1.081000	0.41110	-0.333000	0.08304	AAC		0.333	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		C	110495025	T	C	110495025	3	2	260	1	0	0	0	0	1	0	0	0	870	1754	61	4	3259	4	ARHGAP20	11	110495025	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	54839470	110495025	24511491	57	18575											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789400	117789400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgtaccagctggagatgCctgggctggagatgcccggc	7	7	17	10	1	0	2	0	0	0	2	0	4	0	2	3	5	4	3	3	5	1	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:117789400C>T	ENST00000430170.2	-	2	262	c.175G>A	c.(175-177)Gca>Aca	p.A59T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A59T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A59T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A59T|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A59T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	59	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCCTGGGCTGGA	0.697																																						uc001prs.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(175-177)Gca>Aca		Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.							44	50	48					11																	117789400		1886	4088	5974	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789400C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.175G>A	11.37:g.117789400C>T	ENSP00000387702:p.Ala59Thr					TMPRSS13_uc009yzr.2_Missense_Mutation_p.A59T|TMPRSS13_uc021qrc.1_Missense_Mutation_p.A59T|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.A59T	p.A59T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	1	321	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	59			12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.175G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856815	0.32791	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88586	-2.37;-2.39;-2.38;-2.4;-2.33	1.47	-2.93	0.05598	.	1.355420	0.05466	N	0.552155	T	0.76955	0.4060	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.13407	0.009;0.003	T	0.55392	-0.8148	10	0.40728	T	0.16	.	0.6006	0.00743	0.2248:0.3474:0.1578:0.27	.	54;59	Q9BYE2-4;E9PRA0	.;.	T	59	ENSP00000435813:A59T;ENSP00000434279:A59T;ENSP00000387702:A59T;ENSP00000394114:A59T;ENSP00000436502:A59T	ENSP00000337113:A59T	A	-	1	0	TMPRSS13	117294610	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.010000	0.00314	-2.132000	0.00814	0.205000	0.17691	GCA		0.697	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		T	117789400	C	T	117789400	3	4	260	1	0	0	0	0	1	0	0	0	16242	739	26	3	1576	3	TMPRSS13	11	117789400	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	7294375	117789400	17217116	58	18576											
TREH	23187	broad.mit.edu	37	chr11	118530175	118530175	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcccatactggtaagTcaggatccggttgtcctaga	9	10	12	10	2	1	1	1	0	0	1	4	3	4	3	3	4	1	2	3	4	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:118530175T>C	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Missense_Mutation_p.T323A|TREH_ENST00000529101.1_Missense_Mutation_p.T446A|TREH_ENST00000525958.1_Missense_Mutation_p.T415A|TREH_ENST00000264029.4_Missense_Mutation_p.T446A|TREH_ENST00000397925.1_Missense_Mutation_p.T415A	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TACTGGTAAGTCAGGATCCGG	0.617											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pty.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1336-1338)Act>Gct		Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.							36	37	37					11																	118530175		1920	4127	6047	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118530175T>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118530175T>C			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_uc009zaj.1_Missense_Mutation_p.T415A|TREH_uc001ptz.1_Missense_Mutation_p.T323A	p.T446A	NM_007180	NP_009111	O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	11	1381	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	446					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1336A>G	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	T	7.611	0.674906	0.14841	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.82	3.48	0.39840	Six-hairpin glycosidase-like (1);	0.712955	0.14649	N	0.306707	T	0.19725	0.0474	.	.	.	0.26047	N	0.98154	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.14023	0.007;0.01;0.006	T	0.30119	-0.9989	9	0.08837	T	0.75	-12.2388	5.0449	0.14479	0.3898:0.0764:0.0:0.5338	.	415;323;446	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	A	446;323;446;323;415;415	ENSP00000435095:T446A;ENSP00000432640:T323A;ENSP00000264029:T446A;ENSP00000432853:T415A;ENSP00000381020:T415A	ENSP00000264029:T446A	T	-	1	0	TREH	118035385	0.824000	0.29247	0.976000	0.42696	0.975000	0.68041	0.796000	0.26986	0.453000	0.26858	0.533000	0.62120	ACT		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		C	118530175	T	C	118530175	1	2	260	0	1	0	0	0	0	0	0	0	16466	1667	58	4		4	TREH	11	118530175	IGR	SNP	T	TCGA-76-4928-01B-01D-1486-08	740775	118530175	16476341	59	18577											
CCND2	894	broad.mit.edu	37	chr12	4398029	4398029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagtttgccatgtaccCaccgtcgatgatcgcaactg	9	12	8	12	3	0	1	0	1	0	0	2	2	0	1	3	0	3	3	3	0	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:4398029C>G	ENST00000261254.3	+	4	862	c.593C>G	c.(592-594)cCa>cGa	p.P198R		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	198					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCATGTACCCACCGTCGATG	0.547			T	IGL@	"NHL,CLL"																																	uc001qmo.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"NHL,CLL"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(592-594)cCa>cGa		Homo sapiens cyclin D2 (CCND2), mRNA.							186	166	173					12																	4398029		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4398029C>G	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.593C>G	12.37:g.4398029C>G	ENSP00000261254:p.Pro198Arg						p.P198R	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		3	898	+			198					A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.593C>G	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977531	0.92982	.	.	ENSG00000118971	ENST00000261254	T	0.22134	1.97	5.4	5.4	0.78164	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.49661	-0.8916	10	0.40728	T	0.16	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	198	P30279	CCND2_HUMAN	R	198	ENSP00000261254:P198R	ENSP00000261254:P198R	P	+	2	0	CCND2	4268290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.698000	0.92095	0.655000	0.94253	CCA		0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		G	4398029	C	G	4398029	3	3	260	1	0	0	0	0	1	0	0	0	2917	594	21	5	607	5	CCND2	12	4398029	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		4398029	129453866	60	18578											
ACSM4	341392	broad.mit.edu	37	chr12	7470689	7470689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgggctgggtcaaggccGccattggcagtgtgttttct	6	11	14	10	2	2	0	1	0	1	0	2	0	2	0	2	4	0	3	2	4	1	3	rs79217312		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:7470689G>A	ENST00000399422.4	+	5	880	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	278					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.A278T(2)		endometrium(6)|kidney(1)|lung(14)	21						GGTCAAGGCCGCCATTGGCAG	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		-128	0		0	False		,,,				2504	0					uc001qsx.1																			2	Substitution - Missense(2)	p.A278T(3)	endometrium(2)	endometrium(6)|kidney(1)|lung(14)	21						c.(832-834)Gcc>Acc		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.							117	121	120					12																	7470689		2023	4165	6188	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7470689G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.832G>A	12.37:g.7470689G>A	ENSP00000382349:p.Ala278Thr						p.A278T	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			4	832	+			278					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.832G>A	CCDS44825.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	15.24|15.24	2.775418|2.775418	0.49786|0.49786	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000399422|ENST00000524777	T|.	0.40756|.	1.02|.	4.07|4.07	4.07|4.07	0.47477|0.47477	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.38778|.	U|.	0.001568|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.39467|0.39467	1.215|1.215	0.39104|0.39104	D|D	0.961339|0.961339	P|.	0.47484|.	0.896|.	P|.	0.46940|.	0.532|.	T|T	0.57682|0.57682	-0.7769|-0.7769	10|5	0.45353|.	T|.	0.12|.	-0.7081|-0.7081	14.1486|14.1486	0.65367|0.65367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	278|.	P0C7M7|.	ACSM4_HUMAN|.	T|H	278|23	ENSP00000382349:A278T|.	ENSP00000382349:A278T|.	A|R	+|+	1|2	0|0	ACSM4|ACSM4	7361956|7361956	0.998000|0.998000	0.40836|0.40836	0.988000|0.988000	0.46212|0.46212	0.129000|0.129000	0.20672|0.20672	3.137000|3.137000	0.50562|0.50562	2.260000|2.260000	0.74910|0.74910	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.458	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		A	7470689	G	A	7470689	3	1	260	1	0	0	0	0	1	0	0	0	186	1087	38	1	850	1	ACSM4	12	7470689	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	3072660	7470689	126381206	61	18579											
MRPS35	60488	broad.mit.edu	37	chr12	27908375	27908375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaagagactattaaatGtgacatgaattatggagtag	15	11	11	4	1	0	4	0	3	0	1	0	6	0	5	1	1	0	1	1	1	7	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:27908375G>A	ENST00000081029.3	+	8	1035	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	Y_RNA_ENST00000516776.1_RNA|MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ACTATTAAATGTGACATGAAT	0.254																																						uc001rih.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(964-966)Gtg>Atg		Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							57	69	65					12																	27908375		2154	4266	6420	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27908375G>A	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.964G>A	12.37:g.27908375G>A	ENSP00000081029:p.Val322Met					MRPS35_uc001rii.3_3'UTR	p.V322M	NM_021821	NP_068593	P82673	RT35_HUMAN			7	1035	+	Lung SC(9;0.0873)		322					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.964G>A	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245013	0.22796	.	.	ENSG00000061794	ENST00000081029;ENST00000321446	T	0.48522	0.81	6.07	-6.81	0.01704	.	0.455048	0.23684	N	0.045599	T	0.19846	0.0477	N	0.14661	0.345	0.40854	D	0.983778	B	0.15141	0.012	B	0.08055	0.003	T	0.01371	-1.1372	10	0.72032	D	0.01	-12.4112	3.1094	0.06352	0.1027:0.2655:0.3854:0.2464	.	322	P82673	RT35_HUMAN	M	322;286	ENSP00000081029:V322M	ENSP00000081029:V322M	V	+	1	0	MRPS35	27799642	0.002000	0.14202	0.001000	0.08648	0.569000	0.35902	-1.327000	0.02682	-1.556000	0.01695	-2.092000	0.00371	GTG		0.254	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		A	27908375	G	A	27908375	3	1	260	1	0	0	0	0	1	0	0	0	9844	1377	48	3	994	3	MRPS35	12	27908375	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	20437686	27908375	105943520	62	18580											
GLI1	2735	broad.mit.edu	37	chr12	57864118	57864118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccactgtgtcccgccGcgtgggccccccagtctctc	4	8	11	18	3	1	0	0	0	1	0	4	0	2	0	6	2	1	1	6	2	1	1	rs200306754	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:57864118G>A	ENST00000228682.2	+	12	1686	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	GLI1_ENST00000546141.1_Missense_Mutation_p.R491H|GLI1_ENST00000543426.1_Missense_Mutation_p.R404H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	532					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTCCCGCCGCGTGGGCCCC	0.602													G|||	3	0.000599042	0	0	5008	,	,		18029	0.003		0	False		,,,				2504	0				Pancreas(157;841 1936 10503 41495 50368)	uc001snx.3																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1594-1596)cGc>cAc		Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	88	91	90		1211,1472,1595	4	1	12		90	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	GLI1	NM_001160045.1,NM_001167609.1,NM_005269.2	29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	404/979,491/1066,532/1107	57864118	2,13004	2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864118G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1595G>A	12.37:g.57864118G>A	ENSP00000228682:p.Arg532His					GLI1_uc021qzi.1_Missense_Mutation_p.R491H|GLI1_uc009zpq.3_Missense_Mutation_p.R404H	p.R532H	NM_005269	NP_001153517	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1689	+			532					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1595G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	8.164	0.790145	0.16258	2.27E-4	1.16E-4	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.64;2.55;2.64;2.64	3.95	3.95	0.45737	.	0.142264	0.33161	N	0.005201	T	0.10723	0.0262	L	0.39898	1.24	0.32281	N	0.567528	P	0.48911	0.917	B	0.40329	0.326	T	0.07501	-1.0769	10	0.27082	T	0.32	.	10.0165	0.42018	0.0993:0.0:0.9007:0.0	.	532	P08151	GLI1_HUMAN	H	404;532;491;491	ENSP00000437607:R404H;ENSP00000228682:R532H;ENSP00000441006:R491H;ENSP00000434408:R491H	ENSP00000228682:R532H	R	+	2	0	GLI1	56150385	0.181000	0.23161	0.994000	0.49952	0.810000	0.45777	2.826000	0.48104	2.483000	0.83821	0.561000	0.74099	CGC		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57864118	G	A	57864118	3	1	260	1	0	0	0	0	1	0	0	0	6437	1087	38	1	1637	1	GLI1	12	57864118	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	29955743	57864118	75987777	63	18581											
SLC6A15	55117	broad.mit.edu	37	chr12	85270346	85270346	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctctgatgaggaagcaaAtaagtaccacatatggaaac	17	8	9	7	0	1	2	0	2	1	0	1	4	1	4	1	2	4	3	1	2	6	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:85270346A>T	ENST00000266682.5	-	6	1338	c.797T>A	c.(796-798)aTt>aAt	p.I266N	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.I159N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.I266T(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGGAAGCAAATAAGTACCAC	0.303																																						uc001szv.3																			1	Substitution - Missense(1)	p.I266T(2)	lung(1)	kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(796-798)aTt>aAt		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.							82	83	83					12																	85270346		2203	4296	6499	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270346A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.797T>A	12.37:g.85270346A>T	ENSP00000266682:p.Ile266Asn					SLC6A15_uc010sul.2_Missense_Mutation_p.I159N	p.I266N	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN			5	1290	-			266					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.797T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474872	0.26511	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.76968	-1.06;-1.06	5.74	5.74	0.90152	.	0.381475	0.30791	N	0.008864	D	0.83658	0.5302	M	0.92459	3.31	0.80722	D	1	B	0.29552	0.248	B	0.36244	0.22	D	0.84785	0.0775	10	0.87932	D	0	.	10.3834	0.44125	0.927:0.0:0.073:0.0	.	266	Q9H2J7	S6A15_HUMAN	N	266;159	ENSP00000266682:I266N;ENSP00000450145:I159N	ENSP00000266682:I266N	I	-	2	0	SLC6A15	83794477	0.907000	0.30839	0.294000	0.24946	0.050000	0.14768	7.166000	0.77553	2.189000	0.69895	0.459000	0.35465	ATT		0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		T	85270346	A	T	85270346	3	4	260	1	0	0	0	0	1	0	0	0	14678	101	4	5	1423	5	SLC6A15	12	85270346	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	27406228	85270346	48581549	64	18582											
ATP12A	479	broad.mit.edu	37	chr13	25263441	25263441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggtggtcattttaacGgggatctttgcttattacca	7	16	11	7	1	3	0	1	0	2	0	3	1	3	1	1	5	3	1	1	5	3	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr13:25263441G>A	ENST00000381946.3	+	5	641	c.474G>A	c.(472-474)acG>acA	p.T158T	ATP12A_ENST00000218548.6_Silent_p.T158T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	158					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCATTTTAACGGGGATCTTTG	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)	uc010aaa.3																			0		p.T158M(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(472-474)acG>acA		Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	Esomeprazole(DB00736)|Pantoprazole(DB00213)						224	211	216					13																	25263441		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25263441G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.474G>A	13.37:g.25263441G>A						ATP12A_uc001upp.3_Silent_p.T158T	p.T158T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	807	+		Lung SC(185;0.0225)|Breast(139;0.077)	158					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.474G>A	CCDS31948.1																																																																																				0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25263441	G	A	25263441	2	1	260	1	0	0	0	0	0	0	0	1	1122	1103	39	2		2	ATP12A	13	25263441	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		25263441	89906437	65	18583											
TTC5	91875	broad.mit.edu	37	chr14	20767565	20767565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtcagtccgcagctgacGaagcaccattgacaggtttt	10	10	11	10	2	1	2	1	2	0	0	2	3	2	2	2	1	2	4	2	1	1	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:20767565G>A	ENST00000258821.3	-	4	495	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	147					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGCAGCTGACGAAGCACCATT	0.493																																						uc001vwt.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(439-441)Cgt>Tgt		Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.							146	120	128					14																	20767565		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20767565G>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.439C>T	14.37:g.20767565G>A	ENSP00000258821:p.Arg147Cys					TTC5_uc001vwu.3_Missense_Mutation_p.R4C	p.R147C	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	3	496	-	all_cancers(95;0.00092)		147					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.439C>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.15|19.15	3.772700|3.772700	0.69992|0.69992	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.43294	.|0.95	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.69033	.|0.3066	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.74500	.|-0.3645	.|10	.|0.87932	.|D	.|0	.|.	17.3489|17.3489	0.87317|0.87317	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|147	.|Q8N0Z6	.|TTC5_HUMAN	.|C	-1|147	.|ENSP00000258821:R147C	.|ENSP00000258821:R147C	.|R	-|-	.|1	.|0	TTC5|TTC5	19837405|19837405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.513000|4.513000	0.60476|0.60476	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	.|CGT		0.493	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		A	20767565	G	A	20767565	3	1	260	1	0	0	0	0	1	0	0	0	16708	1058	37	2	911	2	TTC5	14	20767565	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		20767565	86581975	66	18584											
ISM2	145501	broad.mit.edu	37	chr14	77948978	77948978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtctatcgacacctcGgcctgggggtcctccaccac	8	7	10	16	2	1	0	0	0	1	0	5	1	3	0	5	4	1	0	5	4	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:77948978G>A	ENST00000342219.4	-	4	716	c.660C>T	c.(658-660)gcC>gcT	p.A220A	ISM2_ENST00000412904.1_Silent_p.A139A|ISM2_ENST00000429906.1_Silent_p.A139A|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000393684.3_Silent_p.A132A	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	220						extracellular region (GO:0005576)		p.A220A(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCGACACCTCGGCCTGGGGGT	0.622																																						uc001xtz.3																			1	Substitution - coding silent(1)	p.A220A(2)	lung(1)	endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(658-660)gcC>gcT		Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.							58	67	64					14																	77948978		2203	4298	6501	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77948978G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.660C>T	14.37:g.77948978G>A						ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Silent_p.A132A	p.A220A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			3	734	-			220					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.660C>T	CCDS9864.1																																																																																				0.622	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77948978	G	A	77948978	2	1	260	1	0	0	0	0	0	0	0	1	7861	1103	39	2		2	ISM2	14	77948978	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	57181413	77948978	29400562	67	18585											
UNC13C	440279	broad.mit.edu	37	chr15	54542603	54542603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtggagtgaaatgccacGaaaagtgtcaggacctgcta	13	8	13	7	1	1	1	1	1	0	0	1	4	1	3	2	2	2	1	2	2	4	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:54542603G>A	ENST00000260323.11	+	7	3409	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E1135K|UNC13C_ENST00000545554.1_Missense_Mutation_p.E1137K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1137					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3403-3405)Gaa>Aaa		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							81	83	83					15																	54542603		2175	4283	6458	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542603G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3409G>A	15.37:g.54542603G>A	ENSP00000260323:p.Glu1137Lys					UNC13C_uc021sms.1_Missense_Mutation_p.E1137K	p.E1135K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	5	3403	+			1137					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3403G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455302	0.84209	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92099	-2.97;-2.97;-2.97	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	N	0.12663	0.25	0.58432	D	0.999999	B	0.27264	0.173	B	0.23018	0.043	D	0.83537	0.0094	10	0.87932	D	0	.	18.5213	0.90954	0.0:0.0:1.0:0.0	.	1137	Q8NB66	UN13C_HUMAN	K	1137;1137;1135	ENSP00000260323:E1137K;ENSP00000438156:E1137K;ENSP00000442569:E1135K	ENSP00000260323:E1137K	E	+	1	0	UNC13C	52329895	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	9.856000	0.99531	2.626000	0.88956	0.650000	0.86243	GAA		0.507	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54542603	G	A	54542603	3	1	260	1	0	0	0	0	1	0	0	0	16983	1059	37	2	3431	2	UNC13C	15	54542603	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		54542603	47988789	68	18586											
IGDCC3	9543	broad.mit.edu	37	chr15	65667680	65667680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcactataggctgcccgGggacggcaacatcatcactt	10	7	10	14	2	2	0	2	0	0	0	2	1	2	1	2	4	3	3	2	4	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:65667680G>A	ENST00000327987.4	-	2	415	c.164C>T	c.(163-165)cCc>cTc	p.P55L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	55	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGCTGCCCGGGGACGGCAAC	0.582																																						uc002aos.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(163-165)cCc>cTc		Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.							39	32	34					15																	65667680		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667680G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.164C>T	15.37:g.65667680G>A	ENSP00000332773:p.Pro55Leu						p.P55L	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			1	416	-			55			Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.164C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399611	0.11696	.	.	ENSG00000174498	ENST00000327987	T	0.37752	1.18	5.63	3.74	0.42951	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.390538	0.24980	N	0.034070	T	0.17619	0.0423	N	0.04994	-0.135	0.49130	D	0.99975	B	0.14012	0.009	B	0.14023	0.01	T	0.03993	-1.0986	10	0.49607	T	0.09	-2.3061	7.6628	0.28413	0.1453:0.0:0.6934:0.1612	.	55	Q8IVU1	IGDC3_HUMAN	L	55	ENSP00000332773:P55L	ENSP00000332773:P55L	P	-	2	0	IGDCC3	63454733	0.974000	0.33945	0.022000	0.16811	0.003000	0.03518	1.732000	0.38146	0.718000	0.32166	0.655000	0.94253	CCC		0.582	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65667680	G	A	65667680	3	1	260	1	0	0	0	0	1	0	0	0	7568	1232	43	3	2332	3	IGDCC3	15	65667680	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	11125077	65667680	36863712	69	18587											
GRIN2A	2903	broad.mit.edu	37	chr16	9857171	9857171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgactgtccctggaacagtaCgatgccgttgacctcaagga	10	8	11	12	3	1	1	1	1	0	0	2	5	2	3	3	2	3	2	3	2	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:9857171C>T	ENST00000396573.2	-	14	4539	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Silent_p.S1410S|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Silent_p.S1410S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1410					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGAACAGTACGATGCCGTTG	0.502																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4228-4230)tcG>tcA		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						104	90	94					16																	9857171		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857171C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4230G>A	16.37:g.9857171C>T						GRIN2A_uc002czo.4_Silent_p.S1410S|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	p.S1410S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4540	-			1410					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.4230G>A	CCDS10539.1																																																																																				0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9857171	C	T	9857171	2	4	260	1	0	0	0	0	0	0	0	1	6779	523	19	1		1	GRIN2A	16	9857171	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08		9857171	80497582	70	18588											
HYDIN	54768	broad.mit.edu	37	chr16	70917889	70917889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactgcagggtctcggcCggagatatcgatggctataa	9	9	15	8	3	1	1	0	0	1	1	3	4	1	2	1	5	1	2	1	5	3	3	rs185616885		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:70917889C>T	ENST00000393567.2	-	59	10063	c.9913G>A	c.(9913-9915)Ggc>Agc	p.G3305S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3305					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGTCTCGGCCGGAGATATCG	0.532													C|||	1	0.000199681	0	0.0014	5008	,	,		21775	0		0	False		,,,				2504	0					uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9910-9912)Ggc>Agc		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.		C	SER/GLY	0,3946		0,0,1973	49	54	52		9910	5	0.9	16		52	1,8349		0,1,4174	no	missense	HYDIN	NM_032821.2	56	0,1,6147	TT,TC,CC		0.012,0.0,0.0081	benign	3304/5121	70917889	1,12295	1973	4175	6148	SO:0001583	missense	54768							g.chr16:70917889C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9913G>A	16.37:g.70917889C>T	ENSP00000377197:p.Gly3305Ser						p.G3304S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			58	10061	-		Ovarian(137;0.0654)	3305					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9910G>A	CCDS59269.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.05	2.717764	0.48622	0.0	1.2E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	5.01	5.01	0.66863	.	0.221517	0.20975	U	0.082314	T	0.01061	0.0035	L	0.27053	0.805	0.80722	D	1	P	0.50617	0.937	B	0.37198	0.243	T	0.76940	-0.2773	10	0.56958	D	0.05	.	17.9159	0.88950	0.0:1.0:0.0:0.0	.	3304	F8WD23	.	S	3305;3304	ENSP00000377197:G3305S	ENSP00000313052:G3304S	G	-	1	0	HYDIN	69475390	1.000000	0.71417	0.942000	0.38095	0.006000	0.05464	7.022000	0.76431	2.325000	0.78763	0.511000	0.50034	GGC		0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70917889	C	T	70917889	3	4	260	1	0	0	0	0	1	0	0	0	7467	652	23	2	5564	2	HYDIN	16	70917889	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	61060718	70917889	19436864	71	18589											
EIF4A1	1973	broad.mit.edu	37	chr17	7480924	7480924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actatgtgacttgtatgaaaCcctgaccatcacccaggcag	12	9	8	12	0	1	3	1	3	0	0	1	3	1	3	3	1	1	2	3	1	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:7480924C>A	ENST00000293831.8	+	8	822	c.806C>A	c.(805-807)aCc>aAc	p.T269N	CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.T269N|EIF4A1_ENST00000582746.1_Missense_Mutation_p.T269N	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TTGTATGAAACCCTGACCATC	0.537																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(805-807)aCc>aAc		Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.							107	96	100					17																	7480924		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480924C>A	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.806C>A	17.37:g.7480924C>A	ENSP00000293831:p.Thr269Asn					EIF4A1_uc002ghr.1_Missense_Mutation_p.T269N|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	p.T269N	NM_001416	NP_001407	P60842	IF4A1_HUMAN			18	3369	+			269			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.806C>A	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177916	0.38413	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.04654	3.58	5.35	5.35	0.76521	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.12182	0.205	0.80722	D	1	D;D;B	0.76494	0.999;0.995;0.021	D;D;B	0.72625	0.978;0.963;0.021	T	0.35301	-0.9794	10	0.72032	D	0.01	-21.0299	16.5647	0.84576	0.0:1.0:0.0:0.0	.	269;269;269	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	N	269;92	ENSP00000293831:T269N	ENSP00000293831:T269N	T	+	2	0	EIF4A1	7421648	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	7.452000	0.80683	2.515000	0.84797	0.561000	0.74099	ACC		0.537	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		A	7480924	C	A	7480924	3	1	260	1	0	0	0	0	1	0	0	0	5024	507	18	5	836	5	EIF4A1	17	7480924	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		7480924	73714286	72	18590											
PIK3R6	146850	broad.mit.edu	37	chr17	8741187	8741187	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaggtcctggctttccGcctggaaaacaggagatcac	9	7	13	12	2	1	1	1	0	0	1	3	4	3	3	4	5	1	1	4	5	2	1	rs368109046		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:8741187G>A	ENST00000311434.9	-	5	430	c.191C>T	c.(190-192)gCg>gTg	p.A64V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTGGCTTTCCGCCTGGAAAAC	0.587																																						uc002glq.1																			0											c.e5-1		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.							110	114	113					17																	8741187		2099	4217	6316	SO:0001630	splice_region_variant	146850				platelet activation	cytosol		g.chr17:8741187G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.190-1C>T	17.37:g.8741187G>A						PIK3R6_uc002glr.1_Splice_Site|PIK3R6_uc002gls.1_Splice_Site	p.A64_splice	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			5	430	-			64					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.190_splice																																																																																					0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	Missense_Mutation	A	8741187	G	A	8741187	5	1	260	1	0	0	0	0	0	0	1	0	11923	1101	38	1	2136	1	PIK3R6	17	8741187	Splice_Site	SNP	G	TCGA-76-4928-01B-01D-1486-08	1260263	8741187	72454023	73	18591											
MYH8	4626	broad.mit.edu	37	chr17	10316043	10316043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagataggctgccttgtcagCgactgcagagacacagttca	11	8	12	10	1	2	2	2	0	0	2	2	5	2	2	1	1	3	3	1	1	1	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:10316043C>T	ENST00000403437.2	-	13	1244	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	384	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCTTGTCAGCGACTGCAGAG	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1150-1152)Gct>Act		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							186	173	177					17																	10316043		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10316043C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1150G>A	17.37:g.10316043C>T	ENSP00000384330:p.Ala384Thr					AK097500_uc002gml.1_Intron	p.A384T	NM_002472	NP_002463	P13535	MYH8_HUMAN			12	1245	-			384			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1150G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079474	0.94050	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88201	-2.35	4.86	4.86	0.63082	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000883	D	0.94650	0.8275	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95148	0.8270	10	0.72032	D	0.01	.	18.1925	0.89812	0.0:1.0:0.0:0.0	.	384	P13535	MYH8_HUMAN	T	384	ENSP00000384330:A384T	ENSP00000252173:A384T	A	-	1	0	MYH8	10256768	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.607000	0.82883	2.541000	0.85698	0.650000	0.86243	GCT		0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10316043	C	T	10316043	3	4	260	1	0	0	0	0	1	0	0	0	10041	768	27	1	4775	1	MYH8	17	10316043	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	1574856	10316043	70879167	74	18592											
CPD	1362	broad.mit.edu	37	chr17	28772878	28772881	+	Frame_Shift_Del	DEL	TTAA	TTAA	-																															ctactaaagagtttgaaactTtaattaaagacctttcagcg																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:28772878_28772881delTTAA	ENST00000225719.4	+	12	2789_2792	c.2713_2716delTTAA	c.(2713-2718)ttaattfs	p.LI905fs	CPD_ENST00000543464.2_Frame_Shift_Del_p.LI658fs	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	905	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTTTGAAACTTTAATTAAAGACCT	0.417																																						uc002hfb.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2713-2718)ttaattfs		Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28772878_28772881delTTAA	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2713_2716delTTAA	17.37:g.28772882_28772885delTTAA	ENSP00000225719:p.Leu905fs					CPD_uc010wbo.2_Frame_Shift_Del_p.L658fs|CPD_uc010wbp.2_Non-coding_Transcript	p.L905fs	NM_001304	NP_001295	O75976	CBPD_HUMAN			11	2770_2773	+			905			Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Frame_Shift_Del	DEL	ENST00000225719.4	37	c.2713_2716delTTAA	CCDS11257.1																																																																																				0.417	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		-	28772881	TTAA	-	28772878	7	5	260	1	0	1	0	1	0	0	0	0	3798	1838	64	0	2759	0	CPD	17	28772878	Frame_Shift_Del	DEL	TTAA	TCGA-76-4928-01B-01D-1486-08	18456835	28772878	52422332	75	18593											
ORMDL3	94103	broad.mit.edu	37	chr17	38080398	38080398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggagagccagatgccaCggctgttcatcacccgcgtg	8	7	13	13	4	2	2	2	0	0	2	2	3	2	2	3	2	2	3	3	2	1	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:38080398C>T	ENST00000394169.1	-	4	1553	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ORMDL3_ENST00000579695.1_Missense_Mutation_p.R20H|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R20H|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000584220.1_Missense_Mutation_p.R20H			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	20					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCAGATGCCACGGCTGTTCAT	0.602																																						uc002htj.2																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(58-60)cGt>cAt		Homo sapiens ORM1-like 3 (S. cerevisiae) (ORMDL3), mRNA.							218	166	183					17																	38080398		2203	4300	6503	SO:0001583	missense	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38080398C>T		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"ORM1 (S. cerevisiae)-like 3", "ORM1-like 3 (S. cerevisiae)"			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.59G>A	17.37:g.38080398C>T	ENSP00000377724:p.Arg20His					ORMDL3_uc002hti.1_Non-coding_Transcript|ORMDL3_uc002htk.2_Missense_Mutation_p.R20H	p.R20H	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		1	229	-	Colorectal(19;0.000442)		20					B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.59G>A	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.901014	0.72754	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86221	0.1631	9	0.66056	D	0.02	-12.2783	20.428	0.99075	0.0:1.0:0.0:0.0	.	20	Q8N138	ORML3_HUMAN	H	20	.	ENSP00000304858:R20H	R	-	2	0	ORMDL3	35333924	1.000000	0.71417	0.912000	0.35992	0.333000	0.28666	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	CGT		0.602	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		T	38080398	C	T	38080398	3	4	260	1	0	0	0	0	1	0	0	0	11271	536	19	1	414	1	ORMDL3	17	38080398	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	9307520	38080398	43114812	76	18594											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837035	40837035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtaacgtgaacgagtcGgcggtggtgcgccatgacct	7	10	15	9	5	0	2	0	2	0	0	1	3	0	2	2	4	3	1	2	4	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:40837035G>A	ENST00000264638.4	+	4	607	c.390G>A	c.(388-390)tcG>tcA	p.S130S	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	130	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGAACGAGTCGGCGGTGGTGC	0.562																																						uc002iay.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(388-390)tcG>tcA		Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.							83	73	76					17																	40837035		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837035G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.390G>A	17.37:g.40837035G>A						CNTNAP1_uc010wgs.2_Non-coding_Transcript	p.S130S	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	3	606	+		Breast(137;0.000143)	130			F5/8 type C.			Silent	SNP	ENST00000264638.4	37	c.390G>A	CCDS11436.1																																																																																				0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		A	40837035	G	A	40837035	2	1	260	1	0	0	0	0	0	0	0	1	3646	1103	39	2		2	CNTNAP1	17	40837035	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	2756637	40837035	40358175	77	18595											
WIPI1	55062	broad.mit.edu	37	chr17	66449078	66449078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggacttgatccagctgctCcacagaactcagagaaaaca	14	7	9	11	0	1	3	1	1	0	2	3	5	3	4	2	1	4	2	2	1	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:66449078C>T	ENST00000262139.5	-	2	135	c.136G>A	c.(136-138)Gag>Aag	p.E46K	WIPI1_ENST00000546360.1_Intron|WIPI1_ENST00000589459.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	46					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TCCAGCTGCTCCACAGAACTC	0.488																																						uc010dey.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(136-138)Gag>Aag		Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.							123	107	113					17																	66449078		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66449078C>T		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.136G>A	17.37:g.66449078C>T	ENSP00000262139:p.Glu46Lys					WIPI1_uc010wqo.2_Intron	p.E46K	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			1	227	-			46					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.136G>A	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776301	0.90195	.	.	ENSG00000070540	ENST00000262139	T	0.68025	-0.3	6.11	6.11	0.99139	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.109001	0.64402	D	0.000008	T	0.63212	0.2492	L	0.36672	1.1	0.80722	D	1	P	0.41910	0.764	P	0.46026	0.501	T	0.55515	-0.8129	10	0.08599	T	0.76	-13.217	18.9147	0.92501	0.0:1.0:0.0:0.0	.	46	Q5MNZ9	WIPI1_HUMAN	K	46	ENSP00000262139:E46K	ENSP00000262139:E46K	E	-	1	0	WIPI1	63960673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.789000	0.75110	2.906000	0.99361	0.655000	0.94253	GAG		0.488	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		T	66449078	C	T	66449078	3	4	260	1	0	0	0	0	1	0	0	0	17367	864	30	3	1252	3	WIPI1	17	66449078	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	25612043	66449078	14746132	78	18596											
GPR142	350383	broad.mit.edu	37	chr17	72368095	72368095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgcctcagtctggatcGccatcctgctcacggttgac	7	9	9	16	3	3	1	2	1	1	0	5	2	4	2	4	2	1	2	4	2	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:72368095G>A	ENST00000335666.4	+	4	793	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	249						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGTCTGGATCGCCATCCTGCT	0.692																																						uc021ucp.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(736-738)Gcc>Acc		Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.							78	59	65					17																	72368095		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368095G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.745G>A	17.37:g.72368095G>A	ENSP00000335158:p.Ala249Thr					GPR142_uc010wqy.2_Missense_Mutation_p.A249T	p.A246T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			3	745	+			249					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.736G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343737	0.41498	.	.	ENSG00000257008	ENST00000335666	T	0.71934	-0.61	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.120186	0.64402	D	0.000017	T	0.42988	0.1227	N	0.05230	-0.09	0.40613	D	0.98169	B;B	0.33528	0.008;0.416	B;B	0.36186	0.003;0.219	T	0.51896	-0.8647	10	0.02654	T	1	-26.6285	7.4154	0.27042	0.2077:0.0:0.7923:0.0	.	249;1211	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	249	ENSP00000335158:A249T	ENSP00000335158:A249T	A	+	1	0	GPR142	69879690	0.805000	0.28982	0.985000	0.45067	0.894000	0.52154	2.206000	0.42779	2.708000	0.92522	0.650000	0.86243	GCC		0.692	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		A	72368095	G	A	72368095	3	1	260	1	0	0	0	0	1	0	0	0	6650	1087	38	1	759	1	GPR142	17	72368095	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	5919017	72368095	8827115	79	18597											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260035	44260035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgcccgtgtgcacGcggaggatgcctcggctgtg	4	8	17	12	4	0	0	0	0	0	0	1	2	0	2	2	4	4	3	2	4	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:44260035G>A	ENST00000315087.7	-	7	1761	c.1101C>T	c.(1099-1101)cgC>cgT	p.R367R	ST8SIA5_ENST00000536490.1_Silent_p.R336R|ST8SIA5_ENST00000538168.1_Silent_p.R403R|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	367					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCGTGTGCACGCGGAGGATGC	0.652																																						uc010xcy.1																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(1207-1209)cgC>cgT		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.							47	50	49					18																	44260035		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260035G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.1101C>T	18.37:g.44260035G>A						ST8SIA5_uc002lci.1_Silent_p.R214R|ST8SIA5_uc002lcj.1_Silent_p.R367R|ST8SIA5_uc010xcz.1_Silent_p.R336R	p.R403R	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1777	-			367					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.1209C>T	CCDS11930.1																																																																																				0.652	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		A	44260035	G	A	44260035	2	1	260	1	0	0	0	0	0	0	0	1	15234	1074	38	1		1	ST8SIA5	18	44260035	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		44260035	33817213	80	18598											
CDH7	1005	broad.mit.edu	37	chr18	63430143	63430143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcttttcctgtgtttttCtgggatgagtcaagcagaac	8	15	10	8	0	3	2	1	1	2	1	4	3	4	3	1	1	3	3	1	1	2	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:63430143C>T	ENST00000397968.2	+	2	491	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CDH7_ENST00000323011.3_Missense_Mutation_p.S22F|CDH7_ENST00000536984.2_Missense_Mutation_p.S22F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	22					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTGTGTTTTTCTGGGATGAGT	0.433																																						uc002lkb.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(64-66)tCt>tTt		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.							101	100	100					18																	63430143		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63430143C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.65C>T	18.37:g.63430143C>T	ENSP00000381058:p.Ser22Phe					CDH7_uc002ljz.3_Missense_Mutation_p.S22F|CDH7_uc002lka.3_Missense_Mutation_p.S22F	p.S22F	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN			1	491	+		Esophageal squamous(42;0.129)	22					Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.65C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999669	0.35320	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.55930	0.49;0.52;0.49	5.56	5.56	0.83823	.	0.150462	0.47455	D	0.000235	T	0.65186	0.2667	L	0.50333	1.59	0.53005	D	0.999962	P;D	0.61697	0.887;0.99	P;D	0.69142	0.571;0.962	T	0.56426	-0.7981	10	0.09338	T	0.73	.	19.5386	0.95266	0.0:1.0:0.0:0.0	.	22;22	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	22	ENSP00000319166:S22F;ENSP00000443030:S22F;ENSP00000381058:S22F	ENSP00000319166:S22F	S	+	2	0	CDH7	61581123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.305000	0.43664	2.610000	0.88304	0.650000	0.86243	TCT		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63430143	C	T	63430143	3	4	260	1	0	0	0	0	1	0	0	0	3115	913	32	3	67	3	CDH7	18	63430143	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	19170108	63430143	14647105	81	18599											
KLK15	55554	broad.mit.edu	37	chr19	51330305	51330305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacatgatgtcgttgcGgtggctgcgcgcttcgtagc	6	10	14	11	5	0	1	0	1	0	0	2	1	0	1	0	2	5	5	0	2	2	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:51330305G>A	ENST00000598239.1	-	3	340	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	KLK15_ENST00000326856.4_Missense_Mutation_p.R103C|KLK15_ENST00000301421.2_Missense_Mutation_p.R104C|KLK15_ENST00000596931.1_Missense_Mutation_p.R103C|KLK15_ENST00000416184.1_Missense_Mutation_p.R104C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ATGTCGTTGCGGTGGCTGCGC	0.697																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(310-312)Cgc>Tgc		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.							66	59	62					19																	51330305		2203	4299	6502	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330305G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.310C>T	19.37:g.51330305G>A	ENSP00000469315:p.Arg104Cys					KLK15_uc002ptm.3_Missense_Mutation_p.R104C|KLK15_uc002ptn.3_Missense_Mutation_p.R104C|KLK15_uc002pto.3_Missense_Mutation_p.R103C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R103C|KLK15_uc010eod.3_Non-coding_Transcript	p.R104C	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	2	341	-		all_neural(266;0.057)	104			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.310C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	18.91	3.723318	0.68959	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88975	-2.45;-2.45	4.5	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	D	0.90594	0.7051	L	0.45470	1.425	0.09310	N	0.999998	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;P;D;D	0.70487	0.915;0.892;0.921;0.969	T	0.78969	-0.1994	10	0.87932	D	0	.	5.4123	0.16354	0.0942:0.0:0.5422:0.3636	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	104	ENSP00000415136:R104C;ENSP00000301421:R104C	ENSP00000301421:R104C	R	-	1	0	KLK15	56022117	0.008000	0.16893	0.038000	0.18304	0.232000	0.25224	1.006000	0.29847	0.612000	0.30071	0.555000	0.69702	CGC		0.697	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		A	51330305	G	A	51330305	3	1	260	1	0	0	0	0	1	0	0	0	8403	1116	39	2	472	2	KLK15	19	51330305	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		51330305	7798678	82	18600											
NLRP5	126206	broad.mit.edu	37	chr19	56539657	56539657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaggagacaccctggaCgccttccactgtcttttcga	8	9	8	16	2	1	1	0	0	1	1	3	4	2	2	5	2	0	0	5	2	0	3	rs374537249		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:56539657C>T	ENST00000390649.3	+	7	2058	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	686					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACACCCTGGACGCCTTCCACT	0.542																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2056-2058)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.		C		1,3889		0,1,1944	89	93	92		2058	-6.5	0	19		92	1,8277		0,1,4138	no	coding-synonymous	NLRP5	NM_153447.4		0,2,6082	TT,TC,CC		0.0121,0.0257,0.0164		686/1201	56539657	2,12166	1945	4139	6084	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539657C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2058C>T	19.37:g.56539657C>T						NLRP5_uc002qmi.3_Silent_p.D667D	p.D686D	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	2058	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	686					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2058C>T	CCDS12938.1																																																																																				0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539657	C	T	56539657	2	4	260	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56539657	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	5209352	56539657	2589326	83	18601											
TGM3	7053	broad.mit.edu	37	chr20	2312692	2312692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaaggctttggggaaaCttaaacccaacacgccattt	14	9	7	11	1	0	0	0	0	0	0	1	1	1	1	3	3	3	1	3	3	6	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:2312692C>T	ENST00000381458.5	+	10	1441	c.1378C>T	c.(1378-1380)Ctt>Ttt	p.L460F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	460					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTGGGGAAACTTAAACCCAA	0.522																																						uc002wfx.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1378-1380)Ctt>Ttt		Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	L-Glutamine(DB00130)						78	70	72					20																	2312692		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2312692C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1378C>T	20.37:g.2312692C>T	ENSP00000370867:p.Leu460Phe						p.L460F	NM_003245	NP_003236	Q08188	TGM3_HUMAN			9	1475	+			460					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1378C>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430234	0.43122	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.80214	-1.35	5.3	5.3	0.74995	.	0.394451	0.26605	N	0.023450	T	0.77425	0.4128	M	0.64997	1.995	0.50039	D	0.999845	P	0.51147	0.942	B	0.41466	0.358	T	0.80360	-0.1415	10	0.66056	D	0.02	.	11.3794	0.49748	0.1804:0.8196:0.0:0.0	.	460	Q08188	TGM3_HUMAN	F	460	ENSP00000370867:L460F	ENSP00000370867:L460F	L	+	1	0	TGM3	2260692	0.590000	0.26815	0.996000	0.52242	0.196000	0.23810	0.092000	0.15066	2.757000	0.94681	0.655000	0.94253	CTT		0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		T	2312692	C	T	2312692	3	4	260	1	0	0	0	0	1	0	0	0	15828	565	20	3	1416	3	TGM3	20	2312692	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		2312692	60712828	84	18602											
RPRD1B	58490	broad.mit.edu	37	chr20	36687859	36687859	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaggggatgctactgtcCgacagaaaattgcttctctg	10	11	10	10	1	2	1	1	0	1	1	4	3	3	2	1	2	3	2	1	2	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36687859C>T	ENST00000373433.4	+	5	994	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	198					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGCTACTGTCCGACAGAAAAT	0.433																																						uc002xho.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(592-594)Cga>Tga		Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.							115	105	108					20																	36687859		2203	4300	6503	SO:0001587	stop_gained	58490							g.chr20:36687859C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.592C>T	20.37:g.36687859C>T	ENSP00000362532:p.Arg198*						p.R198*	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			4	994	+			198					Q1WDE7|Q6PKF4	Nonsense_Mutation	SNP	ENST00000373433.4	37	c.592C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049537	0.55218	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.53	4.54	0.55810	.	0.101356	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8843	13.8845	0.63699	0.2224:0.7776:0.0:0.0	.	.	.	.	X	198;80	.	ENSP00000362532:R198X	R	+	1	2	RPRD1B	36121273	0.991000	0.36638	1.000000	0.80357	0.906000	0.53458	2.851000	0.48302	2.882000	0.98803	0.655000	0.94253	CGA		0.433	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		T	36687859	C	T	36687859	4	4	260	1	0	0	0	0	0	1	0	0	13616	644	23	2	610	2	RPRD1B	20	36687859	Nonsense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	34375167	36687859	26337661	85	18603											
LBP	3929	broad.mit.edu	37	chr20	36995435	36995435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgcctgactctaatatccGactgaccaccaagtccttcc	10	9	5	17	2	1	2	0	2	1	0	4	3	4	2	7	0	0	0	7	0	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36995435G>A	ENST00000217407.2	+	9	1105	c.944G>A	c.(943-945)cGa>cAa	p.R315Q		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	315					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTAATATCCGACTGACCACC	0.537																																						uc002xic.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(943-945)cGa>cAa		Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.							170	148	156					20																	36995435		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36995435G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.944G>A	20.37:g.36995435G>A	ENSP00000217407:p.Arg315Gln						p.R315Q	NM_004139	NP_004130	P18428	LBP_HUMAN			8	979	+		Myeloproliferative disorder(115;0.00878)	315					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.944G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622732	0.46840	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.12147	2.71	5.25	4.26	0.50523	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.372188	0.23196	N	0.050850	T	0.17238	0.0414	M	0.69523	2.12	0.09310	N	1	P	0.39116	0.66	B	0.41646	0.362	T	0.09773	-1.0659	10	0.18710	T	0.47	-5.4197	9.0324	0.36267	0.1068:0.0:0.8932:0.0	.	315	P18428	LBP_HUMAN	Q	315	ENSP00000217407:R315Q	ENSP00000217407:R315Q	R	+	2	0	LBP	36428849	0.865000	0.29922	0.019000	0.16419	0.043000	0.13939	2.123000	0.41996	1.485000	0.48380	-0.345000	0.07892	CGA		0.537	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		A	36995435	G	A	36995435	3	1	260	1	0	0	0	0	1	0	0	0	8651	1058	37	2	978	2	LBP	20	36995435	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	307576	36995435	26030085	86	18604											
CHD6	84181	broad.mit.edu	37	chr20	40065924	40065924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactcaccgtttgtttcTggaggccatctactttgtcc	5	17	8	11	1	3	1	1	1	2	0	4	2	4	2	3	2	1	2	3	2	1	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:40065924T>G	ENST00000373233.3	-	27	4235	c.4058A>C	c.(4057-4059)cAg>cCg	p.Q1353P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1353					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTTTGTTTCTGGAGGCCATC	0.398																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4057-4059)cAg>cCg		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							216	175	189					20																	40065924		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40065924T>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4058A>C	20.37:g.40065924T>G	ENSP00000362330:p.Gln1353Pro					CHD6_uc002xkb.1_Missense_Mutation_p.Q119P	p.Q1353P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			26	4236	-		Myeloproliferative disorder(115;0.00425)	1353					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4058A>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794098	0.31777	.	.	ENSG00000124177	ENST00000373233	T	0.79940	-1.32	5.22	4.08	0.47627	.	0.116753	0.39146	N	0.001457	T	0.67505	0.2900	L	0.28192	0.835	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.59059	-0.7525	10	0.27785	T	0.31	-9.2586	10.1694	0.42900	0.0:0.0:0.1678:0.8322	.	1353	Q8TD26	CHD6_HUMAN	P	1353	ENSP00000362330:Q1353P	ENSP00000362330:Q1353P	Q	-	2	0	CHD6	39499338	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.255000	0.43222	0.888000	0.36160	0.533000	0.62120	CAG		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			G	40065924	T	G	40065924	3	3	260	1	0	0	0	0	1	0	0	0	3329	1580	55	5	4133	5	CHD6	20	40065924	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	3070489	40065924	22959596	87	18605											
KCNB1	3745	broad.mit.edu	37	chr20	48098620	48098620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtggtagcgggcctggCagcaggactccaggtagatc	7	8	16	10	1	1	1	0	0	1	1	3	2	2	2	2	6	2	4	2	6	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:48098620C>T	ENST00000371741.4	-	1	564	c.398G>A	c.(397-399)tGc>tAc	p.C133Y		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	133					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GCGGGCCTGGCAGCAGGACTC	0.607																																						uc002xur.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(397-399)tGc>tAc		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.							113	91	98					20																	48098620		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098620C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.398G>A	20.37:g.48098620C>T	ENSP00000360806:p.Cys133Tyr					KCNB1_uc002xus.1_Missense_Mutation_p.C133Y	p.C133Y	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		0	564	-			133					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.398G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346364	0.82022	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97976	-4.64	5.15	5.15	0.70609	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99585	1.0974	10	0.87932	D	0	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	133	Q14721	KCNB1_HUMAN	Y	133;88	ENSP00000360806:C133Y	ENSP00000360806:C133Y	C	-	2	0	KCNB1	47532027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.676000	0.91093	0.563000	0.77884	TGC		0.607	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		T	48098620	C	T	48098620	3	4	260	1	0	0	0	0	1	0	0	0	8012	710	25	3	2186	3	KCNB1	20	48098620	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	8032696	48098620	14926900	88	18606											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaactactatggtggtctgCgttatggctatggagtcctg	7	13	13	8	1	1	0	0	0	1	0	2	1	2	1	1	4	3	3	1	4	5	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr21:32007616C>T	ENST00000330798.2	+	1	62	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517																																						uc011adg.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(34-36)Cgt>Tgt		Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.							188	153	165					21																	32007616		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007616C>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.34C>T	21.37:g.32007616C>T	ENSP00000330746:p.Arg12Cys						p.R12C	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			0	34	+			12						Missense_Mutation	SNP	ENST00000330798.2	37	c.34C>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	C	6.118	0.389983	0.11581	.	.	ENSG00000184032	ENST00000330798	T	0.09723	2.95	3.45	2.57	0.30868	.	0.000000	0.40908	U	0.000993	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.41202	0.35	T	0.15492	-1.0435	9	0.87932	D	0	.	8.9659	0.35877	0.0:0.2289:0.7711:0.0	.	12	Q3LI61	KR202_HUMAN	C	12	ENSP00000330746:R12C	ENSP00000330746:R12C	R	+	1	0	KRTAP20-2	30929487	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.216000	0.17585	0.802000	0.34089	-0.128000	0.14901	CGT		0.517	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			T	32007616	C	T	32007616	3	4	260	1	0	0	0	0	1	0	0	0	8537	768	27	1	36	1	KRTAP20-2	21	32007616	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		32007616	16122279	89	18607											
POTEH	23784	broad.mit.edu	37	chr22	16279238	16279238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatttgcttttttcttgaTtaaaaatttcaccacttgct	11	20	3	7	0	2	1	1	1	1	0	2	1	2	1	1	0	2	2	1	0	5	9			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:16279238T>C	ENST00000343518.6	-	4	1036	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTTTCTTGATTAAAAATTTC	0.338																																						uc010gqp.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(985-987)Atc>Gtc		Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.																																				SO:0001583	missense	23784							g.chr22:16279238T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.985A>G	22.37:g.16279238T>C	ENSP00000340610:p.Ile329Val					POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.I48V|POTEH_uc002zlj.1_Missense_Mutation_p.I164V	p.I329V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			3	1037	-			329					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.985A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	6.838	0.523912	0.13066	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.66280	-0.2	1.38	0.287	0.15714	Ankyrin repeat-containing domain (4);	1.813340	0.04313	N	0.349294	T	0.63628	0.2527	N	0.21142	0.635	0.09310	N	1	B;D	0.54397	0.127;0.966	B;D	0.73380	0.376;0.98	T	0.52026	-0.8630	10	0.37606	T	0.19	.	3.5746	0.07930	0.0:0.7261:0.0:0.2739	.	329;292	Q6S545;A6NKF6	POTEH_HUMAN;.	V	292;329	ENSP00000340610:I329V	ENSP00000340610:I329V	I	-	1	0	POTEH	14659238	0.003000	0.15002	0.011000	0.14972	0.196000	0.23810	-1.006000	0.03671	0.145000	0.18977	0.147000	0.16070	ATC		0.338	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16279238	T	C	16279238	3	2	260	1	0	0	0	0	1	0	0	0	12267	1493	52	4	680	4	POTEH	22	16279238	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08		16279238	35025328	90	18608											
PRODH	5625	broad.mit.edu	37	chr22	18912582	18912582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgaggcttcgatgcagcGcaagaatgtctccatgtggc	9	9	12	11	2	1	2	0	1	1	1	3	3	1	2	2	2	2	3	2	2	2	1	rs147270439	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:18912582G>A	ENST00000357068.6	-	4	914	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	PRODH_ENST00000334029.2_Missense_Mutation_p.R109C|PRODH_ENST00000420436.1_Missense_Mutation_p.R109C	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	217					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TCGATGCAGCGCAAGAATGTC	0.632																																						uc002zok.4																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(649-651)Cgc>Tgc		Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Proline(DB00172)						108	96	100					22																	18912582		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18912582G>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.649C>T	22.37:g.18912582G>A	ENSP00000349577:p.Arg217Cys					PRODH_uc002zoj.4_Missense_Mutation_p.R107C|PRODH_uc002zol.4_Missense_Mutation_p.R109C	p.R217C	NM_016335	NP_057419	O43272	PROD_HUMAN			4	853	-			217					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.649C>T	CCDS13754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.70|14.70	2.612457|2.612457	0.46631|0.46631	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000457083|ENST00000357068;ENST00000438924;ENST00000450579	.|T;T	.|0.78003	.|-1.14;-1.14	5.01|5.01	3.93|3.93	0.45458|0.45458	.|.	.|0.594521	.|0.18101	.|N	.|0.151666	T|T	0.78935|0.78935	0.4362|0.4362	L|L	0.50333|0.50333	1.59|1.59	0.33143|0.33143	D|D	0.544573|0.544573	.|D;D;D	.|0.67145	.|0.996;0.994;0.993	.|P;B;B	.|0.53146	.|0.719;0.409;0.427	D|D	0.83707|0.83707	0.0185|0.0185	5|10	.|0.62326	.|D	.|0.03	-12.377|-12.377	11.4409|11.4409	0.50096|0.50096	0.0:0.0:0.7283:0.2717|0.0:0.0:0.7283:0.2717	.|.	.|133;217;109	.|O43272-1;O43272;E7EQL6	.|.;PROD_HUMAN;.	V|C	140|217;99;58	.|ENSP00000349577:R217C;ENSP00000396806:R58C	.|ENSP00000334726:R109C	A|R	-|-	2|1	0|0	PRODH|PRODH	17292582|17292582	0.123000|0.123000	0.22298|0.22298	0.973000|0.973000	0.42090|0.42090	0.358000|0.358000	0.29455|0.29455	0.832000|0.832000	0.27490|0.27490	2.523000|2.523000	0.85059|0.85059	0.444000|0.444000	0.29173|0.29173	GCG|CGC		0.632	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		A	18912582	G	A	18912582	3	1	260	1	0	0	0	0	1	0	0	0	12548	1087	38	1	1197	1	PRODH	22	18912582	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	2633344	18912582	32391984	91	18609											
MAPK1	5594	broad.mit.edu	37	chr22	22142632	22142632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagttcctagcttttaaaTttattatacaattcaggtct	13	18	4	6	0	2	0	1	0	1	0	3	0	3	0	1	1	2	2	1	1	9	10			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:22142632T>C	ENST00000215832.6	-	6	958	c.770A>G	c.(769-771)aAt>aGt	p.N257S	MAPK1_ENST00000398822.3_Missense_Mutation_p.N257S|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AGCTTTTAAATTTATTATACA	0.353																																						uc002zvn.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(769-771)aAt>aGt		Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	Arsenic trioxide(DB01169)						79	83	82					22																	22142632		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22142632T>C	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.770A>G	22.37:g.22142632T>C	ENSP00000215832:p.Asn257Ser					MAPK1_uc002zvo.3_Missense_Mutation_p.N257S|MAPK1_uc010gtk.1_Intron	p.N257S	NM_002745	NP_620407	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	5	1010	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	257			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.770A>G	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069398	0.36470	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822	T;T	0.63096	-0.02;-0.02	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	N	0.21583	0.68	0.80722	D	1	P	0.45396	0.857	P	0.52672	0.706	T	0.53180	-0.8475	10	0.07325	T	0.83	-24.1263	16.5655	0.84588	0.0:0.0:0.0:1.0	.	257	P28482	MK01_HUMAN	S	257;245;257	ENSP00000215832:N257S;ENSP00000381803:N257S	ENSP00000215832:N257S	N	-	2	0	MAPK1	20472632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.951000	0.87819	2.302000	0.77476	0.533000	0.62120	AAT		0.353	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			C	22142632	T	C	22142632	3	2	260	1	0	0	0	0	1	0	0	0	9271	1493	52	4	324	4	MAPK1	22	22142632	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	3230050	22142632	29161934	92	18610											
TMPRSS6	164656	broad.mit.edu	37	chr22	37470715	37470715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaggcagggacacagagtCcattcacagaacagaggaac	16	3	11	11	0	1	3	1	0	0	3	2	5	2	5	1	3	2	1	1	3	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:37470715C>T	ENST00000346753.3	-	12	1519	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G459E|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G459E|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G459E	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	468	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACACAGAGTCCATTCACAGA	0.632																																						uc003aqt.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1375-1377)gGa>gAa		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							116	87	97					22																	37470715		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37470715C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1403G>A	22.37:g.37470715C>T	ENSP00000334962:p.Gly468Glu					TMPRSS6_uc003aqs.1_Missense_Mutation_p.G468E	p.G459E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			11	1438	-			468			LDL-receptor class A 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1376G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442794	0.83993	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.24	5.24	0.73138	.	0.115978	0.64402	D	0.000019	T	0.74974	0.3787	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77281	-0.2646	10	0.72032	D	0.01	.	18.8114	0.92059	0.0:1.0:0.0:0.0	.	459;468	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	E	459;468;459;459	ENSP00000371211:G459E;ENSP00000334962:G468E;ENSP00000385453:G459E;ENSP00000384964:G459E	ENSP00000334962:G468E	G	-	2	0	TMPRSS6	35800661	1.000000	0.71417	0.598000	0.28837	0.670000	0.39368	5.870000	0.69620	2.443000	0.82685	0.462000	0.41574	GGA		0.632	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37470715	C	T	37470715	3	4	260	1	0	0	0	0	1	0	0	0	16248	855	30	3	1060	3	TMPRSS6	22	37470715	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	15328083	37470715	13833851	93	18611											
ARSF	416	broad.mit.edu	37	chrX	3021841	3021841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaaggtggaatccgcGtcccaggaattgtccgatgg	8	8	16	9	3	0	0	0	0	0	0	3	4	3	3	3	5	0	1	3	5	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:3021841G>A	ENST00000381127.1	+	9	1362	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	ARSF_ENST00000359361.2_Missense_Mutation_p.V381I|ARSF_ENST00000537104.1_Missense_Mutation_p.V381I	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	381					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V381I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGAATCCGCGTCCCAGGAAT	0.438																																						uc022brz.1																			1	Substitution - Missense(1)	p.V381I(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(1141-1143)Gtc>Atc		Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.							95	85	88					X																	3021841		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021841G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1141G>A	X.37:g.3021841G>A	ENSP00000370519:p.Val381Ile					ARSF_uc004cre.2_Missense_Mutation_p.V381I|ARSF_uc004crf.2_Missense_Mutation_p.V381I	p.V381I	NM_001201538	NP_001188467	P54793	ARSF_HUMAN			8	1277	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	381					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1141G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437101	0.43224	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95724	-3.79;-3.79;-3.79	3.53	3.53	0.40419	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000001	D	0.98033	0.9352	M	0.85630	2.765	0.48341	D	0.999639	B	0.32425	0.371	D	0.65443	0.935	D	0.97887	1.0295	10	0.44086	T	0.13	.	14.4629	0.67465	0.0:0.0:1.0:0.0	.	381	P54793	ARSF_HUMAN	I	381	ENSP00000370519:V381I;ENSP00000445594:V381I;ENSP00000352319:V381I	ENSP00000352319:V381I	V	+	1	0	ARSF	3031841	1.000000	0.71417	0.016000	0.15963	0.066000	0.16364	7.893000	0.87330	1.374000	0.46228	0.411000	0.27672	GTC		0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			A	3021841	G	A	3021841	3	1	260	1	0	0	0	0	1	0	0	0	991	1145	40	1	1171	1	ARSF	23	3021841	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		3021841	152248719	94	18612											
BRWD3	254065	broad.mit.edu	37	chrX	79999713	79999713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagcaagaaggcgtccatCatctgtagcccaaattttta	12	12	8	9	1	2	1	1	0	1	1	3	1	3	1	2	1	2	3	2	1	6	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:79999713C>T	ENST00000373275.4	-	8	847	c.631G>A	c.(631-633)Gat>Aat	p.D211N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	211					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGCGTCCATCATCTGTAGCC	0.403																																						uc004edt.3																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(631-633)Gat>Aat		Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.							111	100	104					X																	79999713		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999713C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.631G>A	X.37:g.79999713C>T	ENSP00000362372:p.Asp211Asn					BRWD3_uc004edp.3_Missense_Mutation_p.D40N|BRWD3_uc004edq.3_5'UTR|BRWD3_uc010nmj.2_5'UTR|BRWD3_uc004edr.3_5'UTR|BRWD3_uc004eds.3_5'UTR|BRWD3_uc004edo.3_5'UTR|BRWD3_uc004edu.3_5'UTR|BRWD3_uc004edv.3_5'UTR|BRWD3_uc004edw.3_5'UTR|BRWD3_uc004edx.3_5'UTR|BRWD3_uc004edy.3_5'UTR|BRWD3_uc004edz.3_5'UTR|BRWD3_uc004eea.3_5'UTR|BRWD3_uc004eeb.3_Intron	p.D211N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			7	894	-			211					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.631G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460053	0.43736	.	.	ENSG00000165288	ENST00000373275	T	0.17528	2.27	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.152320	0.46442	D	0.000288	T	0.09642	0.0237	N	0.13098	0.295	0.48901	D	0.999729	B	0.14012	0.009	B	0.15052	0.012	T	0.20042	-1.0287	9	.	.	.	-16.3049	11.2012	0.48743	0.0:0.9083:0.0:0.0917	.	211	Q6RI45	BRWD3_HUMAN	N	211	ENSP00000362372:D211N	.	D	-	1	0	BRWD3	79886369	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.928000	0.56506	2.193000	0.70182	0.415000	0.27848	GAT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		T	79999713	C	T	79999713	3	4	260	1	0	0	0	0	1	0	0	0	1526	826	29	3	4913	3	BRWD3	23	79999713	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	76977872	79999713	75270847	95	18613											
FATE1	89885	broad.mit.edu	37	chrX	150885868	150885868	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccacccgacccaagaaAatggtactgtatggggtcct	11	8	10	12	1	0	1	0	0	0	1	1	2	1	1	4	3	2	2	4	3	5	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:150885868A>T	ENST00000370350.3	+	2	316	c.231A>T	c.(229-231)aaA>aaT	p.K77N		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	77						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCAAGAAAATGGTACTGT	0.562																																						uc004fex.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.(229-231)aaA>aaT		Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.							93	92	92					X																	150885868		2203	4300	6503	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150885868A>T	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.231A>T	X.37:g.150885868A>T	ENSP00000359375:p.Lys77Asn						p.K77N	NM_033085	NP_149076	Q969F0	FATE1_HUMAN			1	315	+	Acute lymphoblastic leukemia(192;6.56e-05)		77						Missense_Mutation	SNP	ENST00000370350.3	37	c.231A>T	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362449	0.41902	.	.	ENSG00000147378	ENST00000370350;ENST00000417321	T;T	0.63913	0.3;-0.07	3.73	1.35	0.21983	.	0.000000	0.41712	D	0.000838	T	0.62417	0.2426	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.51466	-0.8702	10	0.62326	D	0.03	.	4.712	0.12877	0.7228:0.0:0.2772:0.0	.	77	Q969F0	FATE1_HUMAN	N	77;69	ENSP00000359375:K77N;ENSP00000400493:K69N	ENSP00000359375:K77N	K	+	3	2	FATE1	150636524	0.278000	0.24230	0.000000	0.03702	0.011000	0.07611	0.463000	0.21972	0.166000	0.19597	0.486000	0.48141	AAA		0.562	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		T	150885868	A	T	150885868	3	4	260	1	0	0	0	0	1	0	0	0	5693	11	1	5	237	5	FATE1	23	150885868	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	70886155	150885868	4384692	96	18614											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147004	1147004	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtccggaaactgcctccCcctggggaggaaaaaaggag	11	4	16	10	1	0	0	0	0	0	0	2	4	2	4	4	7	2	0	4	7	4	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:1147004C>T	ENST00000379236.3	-	7	769	c.765G>A	c.(763-765)ggG>ggA	p.G255G	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	255					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACTGCCTCCCCCTGGGGAGG	0.677																																						uc001adf.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(853-855)ggG>ggA		Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.							27	33	31					1																	1147004		2201	4298	6499	SO:0001630	splice_region_variant	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1147004C>T	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.764-1G>A	1.37:g.1147004C>T						TNFRSF4_uc001ade.3_Splice_Site_p.G255_splice	p.G285G			P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	1453	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	255					Q13663|Q2M312|Q5T7M0	Silent	SNP	ENST00000379236.3	37	c.855G>A	CCDS11.1																																																																																				0.677	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1		Silent	T	1147004	C	T	1147004	5	4	261	1	0	0	0	0	0	0	1	0	16294	637	22	3	72	3	TNFRSF4	1	1147004	Splice_Site	SNP	C	TCGA-76-4929-01A-01D-1486-08		1147004	248103617	1	18615											
PABPC4	8761	broad.mit.edu	37	chr1	40030160	40030160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagttggagccagatggCgaagagttggacgaggccca	11	6	15	9	2	0	2	0	0	0	2	0	6	0	4	3	4	2	2	3	4	2	3	rs139185037		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:40030160C>T	ENST00000372857.3	-	10	2180	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PABPC4_ENST00000372858.3_Missense_Mutation_p.R463H|PABPC4_ENST00000372862.3_Missense_Mutation_p.R463H|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.R463H|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	463					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCCAGATGGCGAAGAGTTGG	0.542																																						uc001cdl.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1387-1389)cGc>cAc		Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	113	115		1388,1388,1388	3.1	1	1	dbSNP_134	115	0,8600		0,0,4300	no	missense,missense,missense	PABPC4	NM_001135653.1,NM_001135654.1,NM_003819.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	463/661,463/632,463/645	40030160	1,13005	2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40030160C>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1388G>A	1.37:g.40030160C>T	ENSP00000361948:p.Arg463His					PABPC4_uc010oiv.1_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H	p.R463H	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		9	2286	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	463					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1388G>A	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.495380|4.495380	0.85069|0.85069	2.27E-4|2.27E-4	0.0|0.0	ENSG00000090621|ENSG00000090621	ENST00000437136;ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.52983	.|0.64;0.64;0.64;0.64	5.94|5.94	3.06|3.06	0.35304|0.35304	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44705|0.44705	0.1306|0.1306	L|L	0.55481|0.55481	1.735|1.735	0.49389|0.49389	D|D	0.999784|0.999784	.|P;B;B	.|0.46220	.|0.874;0.011;0.003	.|B;B;B	.|0.43194	.|0.411;0.008;0.006	T|T	0.44050|0.44050	-0.9353|-0.9353	5|10	.|0.51188	.|T	.|0.08	.|.	11.7534|11.7534	0.51862|0.51862	0.0:0.8069:0.0:0.1931|0.0:0.8069:0.0:0.1931	.|.	.|463;463;463	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	T|H	2;365;185|463	.|ENSP00000361953:R463H;ENSP00000361949:R463H;ENSP00000361948:R463H;ENSP00000361947:R463H	.|ENSP00000361947:R463H	A|R	-|-	1|2	0|0	PABPC4|PABPC4	39802747|39802747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.301000|4.301000	0.59086|0.59086	0.866000|0.866000	0.35629|0.35629	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.542	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		T	40030160	C	T	40030160	3	4	261	1	0	0	0	0	1	0	0	0	11366	768	27	1	618	1	PABPC4	1	40030160	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	38883156	40030160	209220461	2	18616											
CASQ1	844	broad.mit.edu	37	chr1	160162639	160162639	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttggcttcgggctggtAgactctgagaaggatgcagc	7	10	17	7	1	1	2	0	1	1	2	2	4	1	3	0	5	2	5	0	5	2	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:160162639A>T	ENST00000368078.3	+	2	523	c.327A>T	c.(325-327)gtA>gtT	p.V109V	CASQ1_ENST00000368079.3_Silent_p.V103V			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	109					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGGCTGGTAGACTCTGAGA	0.522											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010pja.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(325-327)gtA>gtT		Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.							121	126	124					1																	160162639		2203	4300	6503	SO:0001819	synonymous_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160162639A>T	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.327A>T	1.37:g.160162639A>T			OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1806		p.V109V	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	584	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		109					B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	c.327A>T	CCDS1198.2																																																																																				0.522	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		T	160162639	A	T	160162639	2	4	261	1	0	0	0	0	0	0	0	1	2680	407	15	5		5	CASQ1	1	160162639	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08	120132479	160162639	89087982	3	18617											
TNFSF18	8995	broad.mit.edu	37	chr1	173010533	173010533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaattggggatttgctaGtaaaatgataccccagtatg	13	12	11	5	0	0	2	0	2	0	0	0	4	0	3	2	2	2	3	2	2	6	6	rs545086841		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:173010533G>A	ENST00000404377.3	-	3	574	c.574C>T	c.(574-576)Cta>Tta	p.L192L	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Silent_p.L170L	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	192					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGATTTGCTAGTAAAATGATA	0.418													G|||	1	0.000199681	0	0	5008	,	,		18557	0		0	False		,,,				2504	0.001					uc001giu.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(574-576)Cta>Tta		Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.							89	86	87					1																	173010533		2203	4300	6503	SO:0001819	synonymous_variant	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010533G>A	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"Tumor necrosis factor (ligand) superfamily"	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.574C>T	1.37:g.173010533G>A							p.L192L	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			2	575	-			192					A9IQG8|O95852|Q6ISV1	Silent	SNP	ENST00000404377.3	37	c.574C>T	CCDS1305.2																																																																																				0.418	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		A	173010533	G	A	173010533	2	1	261	1	0	0	0	0	0	0	0	1	16306	1020	36	3		3	TNFSF18	1	173010533	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	12847894	173010533	76240088	4	18618											
LHX9	56956	broad.mit.edu	37	chr1	197887088	197887088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagatccaagactgaggcCcgtctggccaaaggcgccca	10	4	12	15	3	1	3	0	1	1	2	2	3	2	3	4	3	0	1	4	3	2	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:197887088C>T	ENST00000367387.4	+	1	560	c.135C>T	c.(133-135)gcC>gcT	p.A45A	LHX9_ENST00000367390.3_Silent_p.A36A|LHX9_ENST00000337020.2_Silent_p.A45A|LHX9_ENST00000561173.1_Silent_p.A51A|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Silent_p.A36A	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	45					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGACTGAGGCCCGTCTGGCCA	0.662																																						uc001guk.1																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(133-135)gcC>gcT		Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.							72	75	74					1																	197887088		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887088C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.135C>T	1.37:g.197887088C>T						LHX9_uc009wzc.1_Non-coding_Transcript|LHX9_uc001gui.1_Silent_p.A36A	p.A45A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			0	572	+			45					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.135C>T	CCDS1393.1																																																																																				0.662	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		T	197887088	C	T	197887088	2	4	261	1	0	0	0	0	0	0	0	1	8777	610	22	3		3	LHX9	1	197887088	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	24876555	197887088	51363533	5	18619											
HADHA	3030	broad.mit.edu	37	chr2	26457099	26457099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatacctcaagtcctcctcCcaggcaggatccattgatgg	9	10	8	14	0	1	1	1	1	0	0	5	2	5	2	5	3	1	1	5	3	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:26457099C>T	ENST00000380649.3	-	5	568	c.439G>A	c.(439-441)Gga>Aga	p.G147R	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.G60R	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	147					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCCTCCTCCCAGGCAGGAT	0.433																																						uc002rgy.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(439-441)Gga>Aga		Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						103	96	98					2																	26457099		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457099C>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.439G>A	2.37:g.26457099C>T	ENSP00000370023:p.Gly147Arg					HADHA_uc010yks.2_Missense_Mutation_p.G60R|HADHA_uc010ykt.1_Missense_Mutation_p.G60R	p.G147R	NM_000182	NP_000173	P40939	ECHA_HUMAN			4	569	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		147					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.439G>A	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129356	0.94473	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	D;D	0.89196	-2.48;-2.48	5.71	5.71	0.89125	Enoyl-CoA hydratase/isomerase, conserved site (1);Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	H	0.99764	4.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.98979	1.0804	10	0.87932	D	0	-37.1727	17.3612	0.87350	0.0:1.0:0.0:0.0	.	60;147;147	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	R	147;60	ENSP00000370023:G147R;ENSP00000405344:G60R	ENSP00000370023:G147R	G	-	1	0	HADHA	26310603	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.095000	0.76952	2.709000	0.92574	0.655000	0.94253	GGA		0.433	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		T	26457099	C	T	26457099	3	4	261	1	0	0	0	0	1	0	0	0	6943	632	22	3	1916	3	HADHA	2	26457099	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		26457099	216742274	6	18620											
FAM123C	205147	broad.mit.edu	37	chr2	131520666	131520666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagacagggaccaatccCggctggacacagctgggctc	10	4	14	13	1	0	1	0	0	0	1	2	4	1	4	2	5	1	3	2	5	1	0	rs555251292	byFrequency	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:131520666C>T	ENST00000423981.1	+	2	1131	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	AMER3_ENST00000321420.4_Missense_Mutation_p.R341W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	341					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R341W(1)									GGACCAATCCCGGCTGGACAC	0.667													C|||	3	0.000599042	0	0	5008	,	,		15805	0.003		0	False		,,,				2504	0					uc021voy.1																			1	Substitution - Missense(1)	p.R341W(2)	lung(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1021-1023)Cgg>Tgg		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							31	35	34					2																	131520666		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520666C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1021C>T	2.37:g.131520666C>T	ENSP00000392700:p.Arg341Trp					FAM123C_uc002trw.2_Missense_Mutation_p.R341W|FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W	p.R341W	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1021	+	Colorectal(110;0.1)		341					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1021C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345446	0.24426	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18960	2.18;2.18	5.0	-0.621	0.11564	.	0.843641	0.10363	N	0.683786	T	0.37265	0.0997	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.21075	-1.0256	10	0.72032	D	0.01	-9.2446	7.5197	0.27620	0.4961:0.4253:0.0786:0.0	.	341	Q8N944	F123C_HUMAN	W	341	ENSP00000314914:R341W;ENSP00000392700:R341W	ENSP00000314914:R341W	R	+	1	2	FAM123C	131237136	0.008000	0.16893	0.007000	0.13788	0.039000	0.13416	0.530000	0.23036	-0.248000	0.09583	-0.410000	0.06199	CGG		0.667	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131520666	C	T	131520666	3	4	261	1	0	0	0	0	1	0	0	0	5424	643	23	2	1023	2	FAM123C	2	131520666	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	105063567	131520666	111678707	7	18621											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558142	170558142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgagcctatggaatatTctgttgtagtttggtcctca	8	17	9	7	0	3	1	1	1	2	0	4	2	4	2	2	2	1	3	2	2	4	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:170558142T>C	ENST00000359744.3	+	4	1049	c.661T>C	c.(661-663)Tct>Cct	p.S221P	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	221							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						TATGGAATATTCTGTTGTAGT	0.328																																						uc021vsh.1																			0				breast(1)|large_intestine(1)|lung(6)|skin(2)	10						c.(661-663)Tct>Cct		Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.							57	57	57					2																	170558142		2203	4298	6501	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170558142T>C	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.661T>C	2.37:g.170558142T>C	ENSP00000352782:p.Ser221Pro					PHOSPHO2_uc021vsi.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.S221P|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.S221P|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.S221P	p.S221P	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN			3	979	+			221					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.661T>C	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565556	0.45694	.	.	ENSG00000144362	ENST00000359744	T	0.38240	1.15	5.59	4.41	0.53225	HAD-like domain (1);	0.387872	0.23791	U	0.044521	T	0.44603	0.1301	M	0.78049	2.395	0.28426	N	0.917504	P	0.41978	0.767	P	0.46419	0.516	T	0.42999	-0.9418	10	0.41790	T	0.15	.	7.9664	0.30102	0.1361:0.0:0.1425:0.7214	.	221	Q8TCD6	PHOP2_HUMAN	P	221	ENSP00000352782:S221P	ENSP00000352782:S221P	S	+	1	0	PHOSPHO2	170266388	0.996000	0.38824	0.999000	0.59377	0.964000	0.63967	1.325000	0.33724	0.921000	0.36994	0.533000	0.62120	TCT		0.328	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		C	170558142	T	C	170558142	3	2	261	1	0	0	0	0	1	0	0	0	11857	1783	62	4	663	4	PHOSPHO2	2	170558142	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	39037476	170558142	72641231	8	18622											
MYO1B	4430	broad.mit.edu	37	chr2	192248067	192248067	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgtgacctaatagaaaAtgtgagtacttaggtacagt	14	13	9	5	0	0	3	0	2	0	1	0	3	0	3	1	1	2	2	1	1	7	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:192248067A>T	ENST00000392318.3	+	15	1599	c.1352A>T	c.(1351-1353)aAt>aTt	p.N451I	MYO1B_ENST00000339514.4_Splice_Site_p.N451I|MYO1B_ENST00000304164.4_Splice_Site_p.N451I|MYO1B_ENST00000392316.1_Splice_Site_p.N451I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	451	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTAATAGAAAATGTGAGTACT	0.313																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.e15+1		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							107	103	104					2																	192248067		2202	4300	6502	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192248067A>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1353+1A>T	2.37:g.192248067A>T						MYO1B_uc002usq.2_Splice_Site_p.N451_splice|MYO1B_uc002usr.2_Splice_Site_p.N451_splice|MYO1B_uc002ust.1_Splice_Site_p.N89_splice	p.N451_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		15	1608	+			451			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1353_splice	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459412	0.84317	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	6.15	6.15	0.99193	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	L	0.28649	0.875	0.80722	D	1	P;P;P	0.42203	0.773;0.773;0.713	P;P;P	0.49451	0.611;0.611;0.477	T	0.70706	-0.4798	10	0.45353	T	0.12	.	16.7886	0.85580	1.0:0.0:0.0:0.0	.	451;451;451	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	I	451	ENSP00000341903:N451I;ENSP00000376132:N451I;ENSP00000306382:N451I;ENSP00000376130:N451I	ENSP00000306382:N451I	N	+	2	0	MYO1B	191956312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.363000	0.80096	0.523000	0.50628	AAT		0.313	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Missense_Mutation	T	192248067	A	T	192248067	5	4	261	1	0	0	0	0	0	0	1	0	10069	115	4	5	1406	5	MYO1B	2	192248067	Splice_Site	SNP	A	TCGA-76-4929-01A-01D-1486-08	21689925	192248067	50951306	9	18623											
ALS2	57679	broad.mit.edu	37	chr2	202609022	202609022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgagatttgatatcaCttagttttgaatagaatcgt	13	16	8	4	1	2	4	1	3	1	2	3	6	2	4	0	0	0	1	0	0	6	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:202609022C>G	ENST00000264276.6	-	10	2501	c.2129G>C	c.(2128-2130)aGt>aCt	p.S710T	ALS2_ENST00000457679.2_Missense_Mutation_p.S22T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	710	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTGATATCACTTAGTTTTGA	0.398																																						uc002uyo.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2128-2130)aGt>aCt		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.							143	138	140					2																	202609022		1865	4113	5978	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202609022C>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2129G>C	2.37:g.202609022C>G	ENSP00000264276:p.Ser710Thr					ALS2_uc002uyp.4_Missense_Mutation_p.S710T|ALS2_uc002uyq.3_Missense_Mutation_p.S710T|ALS2_uc010ftl.3_Non-coding_Transcript	p.S710T	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			9	2485	-			710			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2129G>C	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663564	0.67700	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.63744	-0.06;-0.06	5.95	5.95	0.96441	Dbl homology (DH) domain (4);	0.043781	0.85682	D	0.000000	T	0.70798	0.3265	L	0.29908	0.895	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.47	D;D;B	0.75484	0.986;0.97;0.42	T	0.64774	-0.6328	10	0.25751	T	0.34	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	710;710;710	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	T	710;22	ENSP00000264276:S710T;ENSP00000394823:S22T	ENSP00000264276:S710T	S	-	2	0	ALS2	202317267	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.177000	0.65032	2.824000	0.97209	0.655000	0.94253	AGT		0.398	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		G	202609022	C	G	202609022	3	3	261	1	0	0	0	0	1	0	0	0	550	565	20	5	2944	5	ALS2	2	202609022	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	10360955	202609022	40590351	10	18624											
SLC11A1	6556	broad.mit.edu	37	chr2	219254613	219254613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgagagatagaccgggcCcgccgagcagacatcagaga	12	4	13	12	4	2	4	1	0	1	4	3	8	2	4	3	1	1	1	3	1	1	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:219254613C>T	ENST00000233202.6	+	9	1156	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC11A1_ENST00000539932.1_Silent_p.A154A	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	272					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGACCGGGCCCGCCGAGCAG	0.537																																						uc002vhv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(814-816)gcC>gcT		Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.							118	93	101					2																	219254613		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219254613C>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.816C>T	2.37:g.219254613C>T						SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A	p.A272A	NM_000578	NP_000569	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1156	+		Renal(207;0.0474)	272					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.816C>T	CCDS2415.1																																																																																				0.537	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		T	219254613	C	T	219254613	2	4	261	1	0	0	0	0	0	0	0	1	14380	610	22	3		3	SLC11A1	2	219254613	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	16645591	219254613	23944760	11	18625											
RNF123	63891	broad.mit.edu	37	chr3	49737157	49737157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcggggccagcccacCgtcctcctcacactggccca	5	6	11	19	3	1	0	1	0	0	0	3	0	3	0	6	4	2	1	6	4	0	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:49737157C>T	ENST00000327697.6	+	12	1080	c.936C>T	c.(934-936)acC>acT	p.T312T	RNF123_ENST00000432042.1_Silent_p.T166T	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	312					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCAGCCCACCGTCCTCCTCA	0.647																																						uc003cxh.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(934-936)acC>acT		Homo sapiens ring finger protein 123 (RNF123), mRNA.							61	64	63					3																	49737157		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49737157C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.936C>T	3.37:g.49737157C>T						RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.3_Non-coding_Transcript	p.T312T	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	11	1022	+			312					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.936C>T	CCDS33758.1																																																																																				0.647	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		T	49737157	C	T	49737157	2	4	261	1	0	0	0	0	0	0	0	1	13433	639	23	2		2	RNF123	3	49737157	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		49737157	148285273	12	18626											
ALG3	10195	broad.mit.edu	37	chr3	183962404	183962404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtacctgaaggccagcacaGattcccagcttggggagggc	9	6	15	11	0	0	2	0	1	0	1	1	3	1	3	3	5	3	3	3	5	2	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:183962404G>A	ENST00000397676.3	-	5	741	c.711C>T	c.(709-711)atC>atT	p.I237I	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Silent_p.I189I|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000455059.1_Silent_p.I197I|ALG3_ENST00000418734.2_Silent_p.I181I	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	237					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCAGCACAGATTCCCAGCT	0.537																																						uc003fne.2																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(709-711)atC>atT		Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.							37	40	39					3																	183962404		1949	4125	6074	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183962404G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.711C>T	3.37:g.183962404G>A						ALG3_uc011brc.1_Silent_p.I202I|ALG3_uc011brd.1_Silent_p.I181I|ALG3_uc011bre.1_Silent_p.I189I	p.I237I	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	742	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		237					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.711C>T	CCDS46968.1																																																																																				0.537	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		A	183962404	G	A	183962404	2	1	261	1	0	0	0	0	0	0	0	1	520	932	33	3		3	ALG3	3	183962404	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	134225247	183962404	14060026	13	18627											
PDGFRA	5156	broad.mit.edu	37	chr4	55131090	55131090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttttttatagcaacAtcagagctggatctagaaat	12	16	7	6	0	3	2	1	0	2	2	3	3	3	3	0	1	3	3	0	1	5	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:55131090A>G	ENST00000257290.5	+	5	964	c.633A>G	c.(631-633)acA>acG	p.T211T	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	211	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTATAGCAACATCAGAGCTGG	0.373			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0		p.A210V(1)|p.A210fs*7(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(631-633)acA>acG		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						126	127	126					4																	55131090		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131090A>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.633A>G	4.37:g.55131090A>G		TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_Non-coding_Transcript	p.T211T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		4	964	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		211			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.633A>G	CCDS3495.1																																																																																				0.373	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		G	55131090	A	G	55131090	2	3	261	1	0	0	0	0	0	0	0	1	11661	204	8	4		4	PDGFRA	4	55131090	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08		55131090	136023186	14	18628											
LPHN3	23284	broad.mit.edu	37	chr4	62363023	62363023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacagccatgtggccatcGcagctactaattttcatgat	11	12	8	10	1	1	2	1	1	0	1	2	2	1	2	2	1	3	2	2	1	3	5	rs371504666		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:62363023G>A	ENST00000514591.1	+	3	341	c.12G>A	c.(10-12)tcG>tcA	p.S4S	LPHN3_ENST00000508946.1_Silent_p.S4S|LPHN3_ENST00000545650.1_Silent_p.S4S|LPHN3_ENST00000514157.1_Silent_p.S4S|LPHN3_ENST00000504896.1_Silent_p.S4S|LPHN3_ENST00000506746.1_Silent_p.S4S|LPHN3_ENST00000507625.1_Silent_p.S4S|LPHN3_ENST00000514996.1_Silent_p.S4S|LPHN3_ENST00000509896.1_Silent_p.S4S|LPHN3_ENST00000511324.1_Silent_p.S4S|LPHN3_ENST00000508693.1_Silent_p.S4S|LPHN3_ENST00000512091.2_Silent_p.S4S|LPHN3_ENST00000506700.1_Silent_p.S4S|LPHN3_ENST00000506720.1_Silent_p.S4S|LPHN3_ENST00000507164.1_Silent_p.S4S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	4					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTGGCCATCGCAGCTACTAA	0.348													G|||	1	0.000199681	8e-04	0	5008	,	,		14428	0		0	False		,,,				2504	0					uc010ihh.3																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(10-12)tcG>tcA		Homo sapiens latrophilin 3 (LPHN3), mRNA.		G		2,3726		0,2,1862	153	144	147		12	-1	0.9	4		147	0,8224		0,0,4112	no	coding-synonymous	LPHN3	NM_015236.4		0,2,5974	AA,AG,GG		0.0,0.0536,0.0167		4/1470	62363023	2,11950	1864	4112	5976	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62363023G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.12G>A	4.37:g.62363023G>A						LPHN3_uc003hcq.4_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S	p.S4S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			0	185	+			4					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.12G>A	CCDS54768.1																																																																																				0.348	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62363023	G	A	62363023	2	1	261	1	0	0	0	0	0	0	0	1	8917	1074	38	1		1	LPHN3	4	62363023	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	7231933	62363023	128791253	15	18629											
DCK	1633	broad.mit.edu	37	chr4	71888254	71888254	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacctgtattatttttTgaacgatctgtgtatagtga	12	16	9	4	1	1	3	0	2	1	1	1	5	1	3	1	0	2	2	1	0	6	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:71888254T>G	ENST00000286648.5	+	3	775	c.378T>G	c.(376-378)ttT>ttG	p.F126L	DCK_ENST00000504730.1_Missense_Mutation_p.F126L|DCK_ENST00000504952.1_Missense_Mutation_p.F126L	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	126					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TATTATTTTTTGAACGATCTG	0.358																																						uc003hfx.3																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(376-378)ttT>ttG		Homo sapiens deoxycytidine kinase (DCK), mRNA.	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						105	107	106					4																	71888254		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71888254T>G	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.378T>G	4.37:g.71888254T>G	ENSP00000286648:p.Phe126Leu					DCK_uc011cbb.2_Missense_Mutation_p.F54L	p.F126L	NM_000788	NP_000779	P27707	DCK_HUMAN	Lung(101;0.235)		2	666	+			126					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.378T>G	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617426	0.87359	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.93859	-3.3;-3.3;-3.3	5.83	2.19	0.27852	.	0.044381	0.85682	D	0.000000	D	0.92776	0.7703	L	0.41961	1.31	0.58432	D	0.999991	D	0.59767	0.986	P	0.59703	0.862	D	0.89846	0.4006	9	.	.	.	.	9.5337	0.39209	0.0:0.2685:0.0:0.7315	.	126	P27707	DCK_HUMAN	L	126	ENSP00000286648:F126L;ENSP00000425578:F126L;ENSP00000421508:F126L	.	F	+	3	2	DCK	72107118	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.579000	0.23788	0.485000	0.27652	0.460000	0.39030	TTT		0.358	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			G	71888254	T	G	71888254	3	3	261	1	0	0	0	0	1	0	0	0	4290	1809	63	5	388	5	DCK	4	71888254	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	9525231	71888254	119266022	16	18630											
ANXA3	306	broad.mit.edu	37	chr4	79507428	79507428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttagggcgcgggaacaaaCgaagatgccttgattgaaat	13	10	12	6	3	0	3	0	2	0	1	0	5	0	4	1	2	3	0	1	2	5	4	rs144437584		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:79507428C>T	ENST00000264908.6	+	6	706	c.327C>T	c.(325-327)aaC>aaT	p.N109N	ANXA3_ENST00000503570.2_Silent_p.N70N|ANXA3_ENST00000512884.1_Silent_p.N70N	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	109					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGGGAACAAACGAAGATGCCT	0.343																																					GBM(2;126 157 27790 28920 42492)	uc003hld.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(325-327)aaC>aaT		Homo sapiens annexin A3 (ANXA3), mRNA.		C		0,4406		0,0,2203	124	122	123		327	-1.4	1	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANXA3	NM_005139.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		109/324	79507428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79507428C>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.327C>T	4.37:g.79507428C>T							p.N109N	NM_005139	NP_005130	P12429	ANXA3_HUMAN			5	637	+			109					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.327C>T	CCDS3584.1																																																																																				0.343	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		T	79507428	C	T	79507428	2	4	261	1	0	0	0	0	0	0	0	1	719	535	19	1		1	ANXA3	4	79507428	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	7619174	79507428	111646848	17	18631											
FGG	2266	broad.mit.edu	37	chr4	155529787	155529787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtttttcttgaaatctaCactgccatcaagtctctaat	11	15	4	11	0	4	1	1	1	3	0	5	1	4	1	2	0	2	1	2	0	4	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:155529787C>T	ENST00000336098.3	-	7	720	c.682G>A	c.(682-684)Gta>Ata	p.V228I	FGG_ENST00000404648.3_Missense_Mutation_p.V228I|FGG_ENST00000405164.1_Missense_Mutation_p.V236I|FGG_ENST00000407946.1_Missense_Mutation_p.V236I	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	228	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTGAAATCTACACTGCCATCA	0.343																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(682-684)Gta>Ata		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						77	79	78					4																	155529787		2203	4299	6502	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155529787C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.682G>A	4.37:g.155529787C>T	ENSP00000336829:p.Val228Ile					FGG_uc003iog.3_Missense_Mutation_p.V228I	p.V228I	NM_021870	NP_068656	P02679	FIBG_HUMAN			6	823	-	all_hematologic(180;0.215)	Renal(120;0.0458)	228			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.682G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409405	0.62399	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	6.17	-12.3	0.00002	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.021490	0.07785	N	0.953925	D	0.95456	0.8524	M	0.73430	2.235	0.09310	N	0.999998	B;P;P;B;B	0.36974	0.231;0.506;0.576;0.433;0.379	B;B;B;B;B	0.40285	0.093;0.295;0.325;0.205;0.157	D	0.88974	0.3403	10	0.66056	D	0.02	.	15.4059	0.74877	0.5017:0.1474:0.3509:0.0	.	125;236;228;236;228	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	I	228;236;228;236	ENSP00000384860:V228I;ENSP00000384101:V236I;ENSP00000336829:V228I;ENSP00000384552:V236I	ENSP00000336829:V228I	V	-	1	0	FGG	155749237	0.000000	0.05858	0.006000	0.13384	0.944000	0.59088	-0.233000	0.09041	-2.101000	0.00846	-0.165000	0.13383	GTA		0.343	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		T	155529787	C	T	155529787	3	4	261	1	0	0	0	0	1	0	0	0	5870	478	17	3	710	3	FGG	4	155529787	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	76022359	155529787	35624489	18	18632											
PLEKHG4B	153478	broad.mit.edu	37	chr5	181778	181778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagtccccgacagcatcGtcaagggcacaggtacggtg	10	5	13	13	4	1	0	1	0	0	0	3	2	2	0	3	3	2	3	3	3	2	1	rs114040866		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:181778G>A	ENST00000283426.6	+	17	3534	c.3484G>A	c.(3484-3486)Gtc>Atc	p.V1162I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1162							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGACAGCATCGTCAAGGGCAC	0.637																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3484-3486)Gtc>Atc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							97	89	92					5																	181778		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:181778G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3484G>A	5.37:g.181778G>A	ENSP00000283426:p.Val1162Ile						p.V1162I	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	16	3534	+			1162						Missense_Mutation	SNP	ENST00000283426.6	37	c.3484G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	6.800	0.516575	0.12944	.	.	ENSG00000153404	ENST00000283426	T	0.27720	1.65	2.51	-2.93	0.05598	.	.	.	.	.	T	0.14830	0.0358	N	0.22421	0.69	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.27157	-1.0082	9	0.23302	T	0.38	.	3.2299	0.06745	0.4867:0.2187:0.2946:0.0	.	1162	Q96PX9	PKH4B_HUMAN	I	1162	ENSP00000283426:V1162I	ENSP00000283426:V1162I	V	+	1	0	PLEKHG4B	234778	1.000000	0.71417	0.000000	0.03702	0.006000	0.05464	1.376000	0.34306	-0.660000	0.05352	-0.550000	0.04213	GTC		0.637	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	181778	G	A	181778	3	1	261	1	0	0	0	0	1	0	0	0	12072	1145	40	1	3550	1	PLEKHG4B	5	181778	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		181778	180733482	19	18633											
BASP1	10409	broad.mit.edu	37	chr5	17275370	17275370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagggctacaatgtgaaCgacgagaaagccaaggagaa	19	3	13	6	2	0	4	0	1	0	3	0	7	0	4	1	2	3	1	1	2	8	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:17275370C>T	ENST00000322611.3	+	2	305	c.45C>T	c.(43-45)aaC>aaT	p.N15N		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	15					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						ACAATGTGAACGACGAGAAAG	0.567																																						uc003jfx.3																			0				endometrium(1)|lung(8)	9						c.(43-45)aaC>aaT		Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.							44	48	47					5																	17275370		2197	4284	6481	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275370C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.45C>T	5.37:g.17275370C>T						BASP1_uc021xws.1_Silent_p.N15N	p.N15N	NM_006317	NP_006308	P80723	BASP1_HUMAN			1	224	+			15					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.45C>T	CCDS3888.1																																																																																				0.567	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			T	17275370	C	T	17275370	2	4	261	1	0	0	0	0	0	0	0	1	1317	535	19	1		1	BASP1	5	17275370	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	17093592	17275370	163639890	20	18634											
CDH18	1016	broad.mit.edu	37	chr5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgtaaaccacccgagCgctgtttccataggtagggt	10	10	11	10	2	0	0	0	0	0	0	1	1	1	0	3	2	3	5	3	2	5	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:19721516C>T	ENST00000507958.1	-	7	1573	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_ENST00000511273.1_Missense_Mutation_p.A195T|CDH18_ENST00000502796.1_Missense_Mutation_p.A195T|CDH18_ENST00000506372.1_Missense_Mutation_p.A195T|CDH18_ENST00000274170.4_Missense_Mutation_p.A195T|CDH18_ENST00000382275.1_Missense_Mutation_p.A195T			Q13634	CAD18_HUMAN	cadherin 18, type 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A195T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463																																						uc003jgd.3																			1	Substitution - Missense(1)	p.A195T(2)|p.S194R(1)	ovary(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(583-585)Gct>Act		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							153	136	142					5																	19721516		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721516C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.583G>A	5.37:g.19721516C>T	ENSP00000425093:p.Ala195Thr					CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	1117	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		195			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.583G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694576	0.96793	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78863	-0.2036	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	195;195	B4DHG6;Q13634	.;CAD18_HUMAN	T	195;195;195;195;195;195;141;195	ENSP00000371710:A195T;ENSP00000425093:A195T;ENSP00000274170:A195T;ENSP00000424931:A195T;ENSP00000422138:A195T;ENSP00000427383:A141T;ENSP00000425854:A195T	.	A	-	1	0	CDH18	19757273	1.000000	0.71417	0.900000	0.35374	0.910000	0.53928	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GCT		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19721516	C	T	19721516	3	4	261	1	0	0	0	0	1	0	0	0	3103	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	2446146	19721516	161193744	21	18635											
PIK3R1	5295	broad.mit.edu	37	chr5	67575468	67575468	+	Frame_Shift_Del	DEL	G	G	-																															tggaaatgatcgatgtgcacGttttggctgacgctttcaaa																								rs143572224		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:67575468delG	ENST00000521381.1	+	5	1157	c.541delG	c.(541-543)gttfs	p.V181fs	PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.V181fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.V181fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.V181fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	181	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGATGTGCACGTTTTGGCTGA	0.393			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(541-543)gttfs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						149	137	141					5																	67575468		2203	4300	6503	SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67575468delG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.541delG	5.37:g.67575468delG	ENSP00000428056:p.Val181fs	TCGA GBM(4;<1E-08)					p.V181fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	4	1121	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	181			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.541delG	CCDS3993.1																																																																																				0.393	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		-	67575468	G	-	67575468	7	5	261	1	0	1	0	1	0	0	0	0	11918	1145	40	0	555	0	PIK3R1	5	67575468	Frame_Shift_Del	DEL	G	TCGA-76-4929-01A-01D-1486-08	47853952	67575468	113339792	22	18636											
POU5F2	134187	broad.mit.edu	37	chr5	93077142	93077142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggccagaccatcaccCtgccaggggccgcctgggtg	5	5	14	17	2	1	1	1	0	0	1	1	1	1	1	7	4	2	0	7	4	0	0	rs181777565	byFrequency	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:93077142C>T	ENST00000510627.4	-	1	201	c.128G>A	c.(127-129)aGg>aAg	p.R43K	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	43					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GACCATCACCCTGCCAGGGGC	0.687													C|||	8	0.00159744	0	0	5008	,	,		14499	0.0079		0	False		,,,				2504	0					uc003kkl.1																			0											c.(127-129)aGg>aAg		Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.							18	22	21					5																	93077142		1926	4120	6046	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077142C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.128G>A	5.37:g.93077142C>T	ENSP00000464890:p.Arg43Lys					FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	p.R43K	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	0	168	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	43					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.128G>A	CCDS59489.1																																																																																				0.687	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		T	93077142	C	T	93077142	3	4	261	1	0	0	0	0	1	0	0	0	12283	681	24	3	862	3	POU5F2	5	93077142	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	25501674	93077142	87838118	23	18637											
FTMT	94033	broad.mit.edu	37	chr5	121187720	121187720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctggcgtctctgcgccCggtgcgctgctgcttcgcgc	0	11	14	16	7	1	0	0	0	1	0	4	0	1	0	1	2	4	4	1	2	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:121187720C>T	ENST00000321339.1	+	1	71	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	21					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTCTGCGCCCGGTGCGCTGC	0.736																																						uc003kss.3																			0		p.R20C(1)|p.R20S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(61-63)cCg>cTg		Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.							17	20	19					5																	121187720		2200	4295	6495	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187720C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.62C>T	5.37:g.121187720C>T	ENSP00000313691:p.Pro21Leu						p.P21L	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	0	71	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	21						Missense_Mutation	SNP	ENST00000321339.1	37	c.62C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	9.132	1.011685	0.19277	.	.	ENSG00000181867	ENST00000321339	T	0.62498	0.02	2.95	0.00785	0.14072	.	.	.	.	.	T	0.34164	0.0888	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15263	-1.0443	9	0.13853	T	0.58	.	1.3672	0.02203	0.1376:0.2334:0.4168:0.2122	.	21	Q8N4E7	FTMT_HUMAN	L	21	ENSP00000313691:P21L	ENSP00000313691:P21L	P	+	2	0	FTMT	121215619	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.748000	0.26305	-0.026000	0.13895	-0.171000	0.13296	CCG		0.736	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		T	121187720	C	T	121187720	3	4	261	1	0	0	0	0	1	0	0	0	6085	652	23	2	64	2	FTMT	5	121187720	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	28110578	121187720	59727540	24	18638											
SLU7	10569	broad.mit.edu	37	chr5	159842130	159842130	+	Splice_Site	DEL	A	A	-																															atacaaaaaattaagtacttActttccttcttcatcaactt																										TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:159842130delA	ENST00000297151.4	-	2	558		c.e2+1			NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)						alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGTACTTACTTTCCTTCT	0.358																																						uc003lyg.3																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.e2+1		Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.							129	131	130					5																	159842130		2203	4300	6503	SO:0001630	splice_region_variant	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159842130delA	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.170+1T>-	5.37:g.159842130delA						SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice	p.K57_splice	NM_006425	NP_006416	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	325	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	57					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Splice_Site	DEL	ENST00000297151.4	37	c.170_splice	CCDS4352.1																																																																																				0.358	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	Intron	-	159842130	A	-	159842130	8	5	261	1	0	1	0	1	0	0	1	0	14755	405	14	0	1648	0	SLU7	5	159842130	Splice_Site	DEL	A	TCGA-76-4929-01A-01D-1486-08	38654410	159842130	21073130	25	18639											
GABRB2	2561	broad.mit.edu	37	chr5	160721269	160721269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtcgttccagagcatttCggccaaaactatgcctgggc	9	10	10	12	2	0	1	0	0	0	1	3	1	1	1	3	2	3	2	3	2	3	3	rs371728438		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:160721269C>T	ENST00000393959.1	-	10	1357	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_ENST00000517547.1_Missense_Mutation_p.R255Q|GABRB2_ENST00000520240.1_Missense_Mutation_p.R415Q|GABRB2_ENST00000353437.6_Missense_Mutation_p.R415Q|GABRB2_ENST00000274547.2_Missense_Mutation_p.R453Q|GABRB2_ENST00000517901.1_Missense_Mutation_p.R352Q			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	453					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGAGCATTTCGGCCAAAACT	0.532																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1357-1359)cGa>cAa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	107	95	99		1244,1358	5.7	1	5		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GABRB2	NM_000813.2,NM_021911.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	415/475,453/513	160721269	1,13005	2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721269C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1358G>A	5.37:g.160721269C>T	ENSP00000377531:p.Arg453Gln					GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	p.R453Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1576	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	453					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1358G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417304	0.83449	0.0	1.16E-4	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85556	-2.0;-2.0;-1.87;-1.87;-1.87;-1.87	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.463565	0.23088	N	0.052073	D	0.89118	0.6624	L	0.39898	1.24	0.51767	D	0.999936	B;B;D;B	0.71674	0.373;0.037;0.998;0.05	B;B;D;B	0.67382	0.071;0.009;0.951;0.026	D	0.86345	0.1707	10	0.29301	T	0.29	.	19.9252	0.97100	0.0:1.0:0.0:0.0	.	255;352;453;415	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	Q	453;453;415;415;352;255	ENSP00000377531:R453Q;ENSP00000274547:R453Q;ENSP00000274546:R415Q;ENSP00000429320:R415Q;ENSP00000430532:R352Q;ENSP00000429750:R255Q	ENSP00000274547:R453Q	R	-	2	0	GABRB2	160653847	0.942000	0.31987	0.997000	0.53966	0.985000	0.73830	2.100000	0.41777	2.715000	0.92844	0.650000	0.86243	CGA		0.532	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			T	160721269	C	T	160721269	3	4	261	1	0	0	0	0	1	0	0	0	6167	884	31	2	184	2	GABRB2	5	160721269	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	879139	160721269	20193991	26	18640											
FKBPL	63943	broad.mit.edu	37	chr6	32097113	32097113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctccctccatggccCtacgcccatagttagctctg	6	12	7	16	1	1	0	0	0	1	0	4	0	4	0	5	1	2	3	5	1	3	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:32097113C>T	ENST00000375156.3	-	2	715	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	149					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCCATGGCCCTACGCCCATA	0.582																																						uc003nzr.3																			0											c.(445-447)Ggg>Agg		Homo sapiens FK506 binding protein like (FKBPL), mRNA.							198	215	209					6																	32097113		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097113C>T	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.445G>A	6.37:g.32097113C>T	ENSP00000364298:p.Gly149Arg					ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.G149R	p.G149R	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN			1	715	-			149					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.445G>A	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516912	0.64634	.	.	ENSG00000204315	ENST00000375156	D	0.91068	-2.78	5.23	5.23	0.72850	.	0.248284	0.33813	N	0.004540	D	0.87819	0.6273	N	0.24115	0.695	0.32524	N	0.535909	D	0.89917	1.0	D	0.66602	0.945	D	0.87969	0.2735	10	0.66056	D	0.02	-13.1764	11.2503	0.49022	0.1822:0.8178:0.0:0.0	.	149	Q9UIM3	FKBPL_HUMAN	R	149	ENSP00000364298:G149R	ENSP00000364298:G149R	G	-	1	0	FKBPL	32205091	0.939000	0.31865	0.143000	0.22291	0.899000	0.52679	3.149000	0.50655	2.728000	0.93425	0.462000	0.41574	GGG		0.582	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			T	32097113	C	T	32097113	3	4	261	1	0	0	0	0	1	0	0	0	5916	681	24	3	608	3	FKBPL	6	32097113	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		32097113	139017954	27	18641											
PKHD1	5314	broad.mit.edu	37	chr6	51890856	51890856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatctggggggctggcaggGtttcacaccagatgctcgcc	6	9	15	11	1	2	1	1	0	1	1	3	1	2	1	2	5	1	5	2	5	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:51890856G>T	ENST00000371117.3	-	32	4027	c.3752C>A	c.(3751-3753)aCc>aAc	p.T1251N	PKHD1_ENST00000340994.4_Missense_Mutation_p.T1251N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1251	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCTGGCAGGGTTTCACACCA	0.597																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3751-3753)aCc>aAc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							49	51	50					6																	51890856		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890856G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3752C>A	6.37:g.51890856G>T	ENSP00000360158:p.Thr1251Asn					PKHD1_uc003pai.3_Missense_Mutation_p.T1251N	p.T1251N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			31	4028	-	Lung NSC(77;0.0605)		1251			IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3752C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490920	0.44249	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79940	-1.32;-1.32	5.87	4.07	0.47477	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.281993	0.35677	N	0.003045	D	0.87669	0.6235	M	0.90705	3.14	0.28283	N	0.923871	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	T	0.80139	-0.1507	10	0.56958	D	0.05	.	10.7579	0.46247	0.1313:0.0:0.8687:0.0	.	1251;1251	P08F94-2;P08F94	.;PKHD1_HUMAN	N	1251	ENSP00000360158:T1251N;ENSP00000341097:T1251N	ENSP00000341097:T1251N	T	-	2	0	PKHD1	51998815	0.957000	0.32711	0.949000	0.38748	0.005000	0.04900	1.510000	0.35790	2.780000	0.95670	0.655000	0.94253	ACC		0.597	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51890856	G	T	51890856	3	4	261	1	0	0	0	0	1	0	0	0	11971	1261	44	5	8655	5	PKHD1	6	51890856	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	19793743	51890856	119224211	28	18642											
WBSCR17	64409	broad.mit.edu	37	chr7	70597844	70597844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgaacttgatcgcggtagCcggcttcgtgctcttcctgg	4	13	13	11	4	1	2	0	2	1	0	4	2	2	2	2	3	3	4	2	3	2	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:70597844C>T	ENST00000333538.5	+	1	690	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	19					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCGCGGTAGCCGGCTTCGTG	0.677																																						uc003tvy.3																			0		p.V18L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(55-57)gCc>gTc		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							54	50	51					7																	70597844		2201	4299	6500	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597844C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.56C>T	7.37:g.70597844C>T	ENSP00000329654:p.Ala19Val						p.A19V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			0	56	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	19					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.56C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508337	0.27036	.	.	ENSG00000185274	ENST00000333538	T	0.54279	0.58	4.85	4.85	0.62838	.	0.489617	0.20549	N	0.090146	T	0.28863	0.0716	N	0.04508	-0.205	0.53688	D	0.999978	B	0.14438	0.01	B	0.12837	0.008	T	0.19160	-1.0314	10	0.02654	T	1	.	17.1215	0.86702	0.0:1.0:0.0:0.0	.	19	Q6IS24	GLTL3_HUMAN	V	19	ENSP00000329654:A19V	ENSP00000329654:A19V	A	+	2	0	WBSCR17	70235780	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.056000	0.71111	2.512000	0.84698	0.563000	0.77884	GCC		0.677	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		T	70597844	C	T	70597844	3	4	261	1	0	0	0	0	1	0	0	0	17261	739	26	3	58	3	WBSCR17	7	70597844	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		70597844	88540819	29	18643											
CLIP2	7461	broad.mit.edu	37	chr7	73791076	73791076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaacaggaggtcgagaGtttgcgggagaagctcctgg	10	6	18	7	2	0	2	0	0	0	2	2	5	1	3	1	5	3	3	1	5	2	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:73791076G>A	ENST00000395060.1	+	9	2345	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N	CLIP2_ENST00000223398.6_Missense_Mutation_p.S782N|CLIP2_ENST00000361545.5_Missense_Mutation_p.S747N			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	782						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGGTCGAGAGTTTGCGGGAG	0.632																																						uc003uam.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2344-2346)aGt>aAt		Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.							23	25	24					7																	73791076		2202	4300	6502	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73791076G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2345G>A	7.37:g.73791076G>A	ENSP00000378500:p.Ser782Asn					CLIP2_uc003uan.3_Missense_Mutation_p.S747N|CLIP2_uc003uao.3_Missense_Mutation_p.S176N	p.S782N	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			9	2672	+			782					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2345G>A	CCDS5569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.616|7.616	0.675756|0.675756	0.14841|0.14841	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060|ENST00000493166	T;T;T|.	0.60171|.	0.24;0.21;0.24|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.760515|.	0.12655|.	N|.	0.450155|.	T|T	0.36608|0.36608	0.0973|0.0973	N|N	0.19112|0.19112	0.55|0.55	0.21220|0.21220	N|N	0.99975|0.99975	B;B;B|.	0.14012|.	0.009;0.006;0.003|.	B;B;B|.	0.15870|.	0.01;0.014;0.006|.	T|T	0.26815|0.26815	-1.0092|-1.0092	10|5	0.18710|.	T|.	0.47|.	-13.1756|-13.1756	16.7413|16.7413	0.85460|0.85460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	747;747;782|.	A7E2F7;Q9UDT6-2;Q9UDT6|.	.;.;CLIP2_HUMAN|.	N|I	782;782;747;782|18	ENSP00000223398:S782N;ENSP00000355151:S747N;ENSP00000378500:S782N|.	ENSP00000223398:S782N|.	S|V	+|+	2|1	0|0	CLIP2|CLIP2	73429012|73429012	0.971000|0.971000	0.33674|0.33674	0.998000|0.998000	0.56505|0.56505	0.381000|0.381000	0.30169|0.30169	2.100000|2.100000	0.41777|0.41777	2.286000|2.286000	0.76751|0.76751	0.549000|0.549000	0.68633|0.68633	AGT|GTT		0.632	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		A	73791076	G	A	73791076	3	1	261	1	0	0	0	0	1	0	0	0	3533	1029	36	3	2379	3	CLIP2	7	73791076	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	3193232	73791076	85347587	30	18644											
AKAP9	10142	broad.mit.edu	37	chr7	91711915	91711915	+	Frame_Shift_Del	DEL	C	C	-																															tcttagagctgaatcagtggCtaccaaagcagaacttgcca																										TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:91711915delC	ENST00000359028.2	+	33	8360	c.8135delC	c.(8134-8136)gctfs	p.A2712fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.A2712fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.A2700fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2712	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATCAGTGGCTACCAAAGCA	0.373			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8098-8100)gctfs		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							65	67	66					7																	91711915		2203	4299	6502	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91711915delC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8135delC	7.37:g.91711915delC	ENSP00000351922:p.Ala2712fs					AKAP9_uc003ulf.3_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.3_5'Flank	p.A2700fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	8324	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2712			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.8099delC																																																																																					0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		-	91711915	C	-	91711915	7	5	261	1	0	1	0	1	0	0	0	0	459	797	28	0	8225	0	AKAP9	7	91711915	Frame_Shift_Del	DEL	C	TCGA-76-4929-01A-01D-1486-08	17920839	91711915	67426748	31	18645											
JHDM1D	80853	broad.mit.edu	37	chr7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactccaagattcataaCgtgccaaattttcatctgtt	13	14	5	9	1	3	2	2	1	1	1	4	2	4	2	2	0	3	1	2	0	4	5	rs369398521		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:139824534C>T	ENST00000397560.2	-	7	1035	c.938G>A	c.(937-939)cGt>cAt	p.R313H	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R313H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		313	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(937-939)cGt>cAt		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.		C	HIS/ARG	0,3682		0,0,1841	95	86	89		938	4.3	1	7		89	3,8177		0,3,4087	no	missense	JHDM1D	NM_030647.1	29	0,3,5928	TT,TC,CC		0.0367,0.0,0.0253	benign	313/942	139824534	3,11859	1841	4090	5931	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139824534C>T																												ENST00000397560.2:c.938G>A	7.37:g.139824534C>T	ENSP00000380692:p.Arg313His						p.R313H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			6	942	-	Melanoma(164;0.0142)		313			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.938G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577367	0.65878	0.0	3.67E-4	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.71817	-0.6;-0.6	5.49	4.34	0.51931	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.060735	0.64402	D	0.000002	T	0.52435	0.1734	N	0.16656	0.425	0.35337	D	0.786138	B	0.30686	0.29	B	0.13407	0.009	T	0.62296	-0.6884	10	0.87932	D	0	-3.5299	12.7856	0.57502	0.8568:0.1432:0.0:0.0	.	313	Q6ZMT4	KDM7_HUMAN	H	313	ENSP00000380692:R313H;ENSP00000006967:R313H	ENSP00000006967:R313H	R	-	2	0	JHDM1D	139471003	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.085000	0.64468	1.021000	0.39600	-0.262000	0.10625	CGT		0.358	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			T	139824534	C	T	139824534	3	4	261	1	0	0	0	0	1	0	0	0	7948	536	19	1	1943	1	JHDM1D	7	139824534	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	48112619	139824534	19314129	32	18646											
MGAM	8972	broad.mit.edu	37	chr7	141765179	141765179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggggtcgtcatcacccGctccacatttccctcttctg	5	11	9	16	3	4	0	2	0	2	0	7	1	6	0	3	2	0	1	3	2	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:141765179G>A	ENST00000549489.2	+	38	4624	c.4529G>A	c.(4528-4530)cGc>cAc	p.R1510H	MGAM_ENST00000475668.2_Missense_Mutation_p.R1510H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1510	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATCACCCGCTCCACATTT	0.597																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4528-4530)cGc>cAc		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50	55	53					7																	141765179		2037	4183	6220	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765179G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4529G>A	7.37:g.141765179G>A	ENSP00000447378:p.Arg1510His						p.R1510H	NM_004668	NP_004659	O43451	MGA_HUMAN			37	4583	+	Melanoma(164;0.0272)		1510			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4529G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847132	0.91277	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.97016	-4.21	3.97	3.97	0.46021	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99096	0.9689	H	0.99789	4.78	0.44221	D	0.997054	D	0.89917	1.0	D	0.97110	1.0	D	0.98472	1.0601	9	0.87932	D	0	.	14.8747	0.70485	0.0:0.0:1.0:0.0	.	1510	O43451	MGA_HUMAN	H	1510;1510;1387	ENSP00000447378:R1510H	ENSP00000316431:R1387H	R	+	2	0	MGAM	141411648	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	9.718000	0.98758	1.759000	0.51996	0.306000	0.20318	CGC		0.597	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141765179	G	A	141765179	3	1	261	1	0	0	0	0	1	0	0	0	9541	1087	38	1	4675	1	MGAM	7	141765179	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	1940645	141765179	17373484	33	18647											
KEL	3792	broad.mit.edu	37	chr7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcacccagtattctccGaagtcggtttttgttctttg	5	18	7	11	2	3	0	1	0	2	0	6	1	4	0	3	1	0	3	3	1	2	7	rs184131044	byFrequency	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:142658027G>A	ENST00000355265.2	-	4	862	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	130					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502													G|||	4	0.000798722	0	0	5008	,	,		19594	0.002		0	False		,,,				2504	0.002					uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	GRCh37	CM973369	KEL	M	rs184131044	c.(388-390)Cgg>Tgg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							185	189	188					7																	142658027		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658027G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.388C>T	7.37:g.142658027G>A	ENSP00000347409:p.Arg130Trp						p.R130W	NM_000420	NP_000411	P23276	KELL_HUMAN			3	598	-	Melanoma(164;0.059)		130					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.388C>T	CCDS34766.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.875|5.875	0.345548|0.345548	0.11126|0.11126	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543|ENST00000460479	T;T;T|.	0.77229|.	-1.08;-1.08;-1.08|.	5.84|5.84	1.87|1.87	0.25490|0.25490	Peptidase M13 (1);|.	0.616178|.	0.14380|.	N|.	0.323161|.	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B|.	0.30236|.	0.274|.	B|.	0.28465|.	0.09|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.62326|.	D|.	0.03|.	-17.8298|-17.8298	6.7327|6.7327	0.23393|0.23393	0.0825:0.0:0.4634:0.4541|0.0825:0.0:0.4634:0.4541	.|.	130|.	P23276|.	KELL_HUMAN|.	W|L	130;130;111|140	ENSP00000347409:R130W;ENSP00000419889:R130W;ENSP00000420011:R111W|.	ENSP00000347409:R130W|.	R|S	-|-	1|2	2|0	KEL|KEL	142368149|142368149	0.004000|0.004000	0.15560|0.15560	0.003000|0.003000	0.11579|0.11579	0.050000|0.050000	0.14768|0.14768	0.366000|0.366000	0.20365|0.20365	0.056000|0.056000	0.16144|0.16144	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.502	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142658027	G	A	142658027	3	1	261	1	0	0	0	0	1	0	0	0	8142	1057	37	2	1874	2	KEL	7	142658027	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	892848	142658027	16480636	34	18648											
NEFL	4747	broad.mit.edu	37	chr8	24813390	24813390	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttcgtccatcaagctgtCgatgcgcttctcgagctcgg	6	12	11	12	5	2	0	1	0	1	0	7	3	3	0	1	1	3	3	1	1	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr8:24813390C>T	ENST00000221169.5	-	0	1234				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCAAGCTGTCGATGCGCTTC	0.632																																						uc003xee.3																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21						c.(640-642)Gac>Aac		Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.							28	30	30					8																	24813390		1970	4146	6116			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813390C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813390C>T							p.D214N	NM_006158	NP_006149	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	742	-		Ovarian(32;0.00965)|Prostate(55;0.157)	214			Coil 1B.|Rod.		B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37	c.640G>A																																																																																					0.632	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		T	24813390	C	T	24813390	1	4	261	0	1	0	0	0	0	0	0	0	10315	884	31	2		2	NEFL	8	24813390	RNA	SNP	C	TCGA-76-4929-01A-01D-1486-08		24813390	121550632	35	18649											
INSL6	11172	broad.mit.edu	37	chr9	5185459	5185459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacggaactggctccagttGgcatggccgcagagtttttc	9	10	12	10	2	0	1	0	0	0	1	2	2	1	2	2	4	2	5	2	4	2	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:5185459G>A	ENST00000381641.3	-	1	209	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	48					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGCTCCAGTTGGCATGGCCGC	0.532																																						uc003zix.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(142-144)gcC>gcT		Homo sapiens insulin-like 6 (INSL6), mRNA.							85	80	81					9																	5185459		2203	4300	6503	SO:0001819	synonymous_variant	11172					extracellular region	hormone activity	g.chr9:5185459G>A	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.144C>T	9.37:g.5185459G>A							p.A48A	NM_007179	NP_009110	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	0	160	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	48					A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	c.144C>T	CCDS6458.1																																																																																				0.532	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		A	5185459	G	A	5185459	2	1	261	1	0	0	0	0	0	0	0	1	7770	1335	47	3		3	INSL6	9	5185459	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08		5185459	136027972	36	18650											
NUDT2	318	broad.mit.edu	37	chr9	34343182	34343182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggagacccaagaggaagCaggcatagaagcaggccagc	15	1	16	9	0	0	3	0	0	0	3	0	6	0	4	2	4	3	3	2	4	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:34343182C>T	ENST00000379158.2	+	5	546	c.188C>T	c.(187-189)gCa>gTa	p.A63V	NUDT2_ENST00000379155.5_Missense_Mutation_p.A63V|NUDT2_ENST00000346365.4_Missense_Mutation_p.A63V	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	63	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGAGGAAGCAGGCATAGAA	0.493																																					Melanoma(95;1683 1957 4276 39813)	uc003zuc.3																			0				lung(3)	3						c.(187-189)gCa>gTa		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA.							145	135	138					9																	34343182		2203	4300	6503	SO:0001583	missense	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343182C>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"Nudix motif containing"	8049	protein-coding gene	gene with protein product	"Ap4A hydrolase 1", "Ap4Aase", "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)", "diadenosine tetraphosphatase", "diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.188C>T	9.37:g.34343182C>T	ENSP00000368455:p.Ala63Val					NUDT2_uc003zub.3_Missense_Mutation_p.A63V|NUDT2_uc003zud.3_Missense_Mutation_p.A63V|NUDT2_uc022bga.1_Missense_Mutation_p.A63V	p.A63V	NM_147172	NP_671701	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	4	475	+			63			Nudix hydrolase.		D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	37	c.188C>T	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153136	0.78001	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.07021	3.23;3.23;3.23	5.88	4.99	0.66335	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.134136	0.64402	N	0.000002	T	0.14830	0.0358	L	0.39566	1.225	0.80722	D	1	P	0.46621	0.881	P	0.51866	0.682	T	0.01596	-1.1316	10	0.40728	T	0.16	-1.4721	15.2069	0.73186	0.0:0.9325:0.0:0.0675	.	63	P50583	AP4A_HUMAN	V	63	ENSP00000368452:A63V;ENSP00000344187:A63V;ENSP00000368455:A63V	ENSP00000338397:A63V	A	+	2	0	NUDT2	34333182	1.000000	0.71417	0.958000	0.39756	0.376000	0.30014	5.893000	0.69798	1.504000	0.48704	-0.291000	0.09656	GCA		0.493	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		T	34343182	C	T	34343182	3	4	261	1	0	0	0	0	1	0	0	0	10737	710	25	3	194	3	NUDT2	9	34343182	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	29157723	34343182	106870249	37	18651											
NAA35	60560	broad.mit.edu	37	chr9	88633637	88633637	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtctgacctcaataaataTagccctcctcctcagtctcc	10	12	4	15	0	4	1	2	1	2	0	7	1	6	1	5	0	1	0	5	0	5	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:88633637T>C	ENST00000361671.5	+	21	2071	c.1938T>C	c.(1936-1938)taT>taC	p.Y646Y		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	646					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCAATAAATATAGCCCTCCTC	0.363																																						uc004aoi.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1936-1938)taT>taC		Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.							115	119	118					9																	88633637		2203	4300	6503	SO:0001819	synonymous_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88633637T>C	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1938T>C	9.37:g.88633637T>C						NAA35_uc004aoj.4_Silent_p.Y646Y	p.Y646Y	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			20	2075	+			646					Q5VZE6|Q9H631|Q9H703	Silent	SNP	ENST00000361671.5	37	c.1938T>C	CCDS6673.1																																																																																				0.363	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		C	88633637	T	C	88633637	2	2	261	1	0	0	0	0	0	0	0	1	10123	1413	49	4		4	NAA35	9	88633637	Silent	SNP	T	TCGA-76-4929-01A-01D-1486-08	54290455	88633637	52579794	38	18652											
PTPN3	5774	broad.mit.edu	37	chr9	112189356	112189356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacaagtttttgcaagatCggtaattcagcatgttgaag	12	13	9	7	1	1	2	1	1	0	1	3	2	2	2	1	1	2	5	1	1	4	5	rs374370776		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:112189356C>T	ENST00000374541.2	-	12	979	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	PTPN3_ENST00000412145.1_Missense_Mutation_p.R161Q|PTPN3_ENST00000262539.3_Missense_Mutation_p.R183Q|PTPN3_ENST00000446349.1_Missense_Mutation_p.R161Q	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	292	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTGCAAGATCGGTAATTCAG	0.448																																						uc004bed.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(874-876)cGa>cAa		Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	148	132	137		875,482,482,14,14,875	5.8	1	9		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_001145371.1,NM_001145372.1,NM_002829.3	43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	292/869,161/783,161/738,5/627,5/582,292/914	112189356	1,13005	2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112189356C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.875G>A	9.37:g.112189356C>T	ENSP00000363667:p.Arg292Gln					PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q	p.R292Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN			11	987	-			292			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.875G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547613	0.96488	0.0	1.16E-4	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.76	5.76	0.90799	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.057506	0.64402	D	0.000007	D	0.93739	0.7999	M	0.79614	2.46	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.97;0.971;0.984	D	0.93755	0.7062	10	0.72032	D	0.01	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	183;292;292	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	Q	292;161;161;292;183	ENSP00000416654:R161Q;ENSP00000395384:R161Q;ENSP00000363667:R292Q;ENSP00000262539:R183Q	ENSP00000262539:R183Q	R	-	2	0	PTPN3	111229177	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.172000	0.58243	2.713000	0.92767	0.655000	0.94253	CGA		0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			T	112189356	C	T	112189356	3	4	261	1	0	0	0	0	1	0	0	0	12789	884	31	2	1926	2	PTPN3	9	112189356	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	23555719	112189356	29024075	39	18653											
RGS3	5998	broad.mit.edu	37	chr9	116268773	116268773	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggcccacgagatccGgtgacaggggacagcgggtg	8	4	19	10	3	0	2	0	1	0	1	1	5	1	4	2	6	2	1	2	6	0	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:116268773G>A	ENST00000374140.2	+	13	1294	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000317613.6_Splice_Site_p.R250Q|RGS3_ENST00000394646.3_Splice_Site_p.R81Q|RGS3_ENST00000350696.5_Splice_Site_p.R362Q|RGS3_ENST00000343817.5_Splice_Site_p.R81Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	362	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CACGAGATCCGGTGACAGGGG	0.677																																						uc004bhq.3																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e13+1		Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.							28	24	25					9																	116268773		2200	4295	6495	SO:0001630	splice_region_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116268773G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1085+1G>A	9.37:g.116268773G>A						RGS3_uc004bhr.3_Splice_Site_p.R250_splice|RGS3_uc004bhs.3_Splice_Site_p.R252_splice|RGS3_uc004bht.3_Splice_Site_p.R81_splice|RGS3_uc010muy.3_Splice_Site_p.R81_splice|RGS3_uc004bhu.3_Splice_Site	p.R362_splice	NM_144488	NP_652759	P49796	RGS3_HUMAN			13	1294	+			362			PDZ.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1085_splice	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207995	0.95033	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.27	4.38	0.52667	PDZ/DHR/GLGF (4);	0.049643	0.85682	N	0.000000	T	0.45518	0.1346	L	0.42008	1.315	0.80722	D	1	B;D;D;D;D	0.89917	0.12;1.0;1.0;1.0;1.0	B;D;D;D;D	0.97110	0.019;1.0;0.999;0.997;0.998	T	0.39057	-0.9632	10	0.56958	D	0.05	.	11.5002	0.50433	0.082:0.0:0.918:0.0	.	81;81;252;250;362	B3KUB2;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;RGS3_HUMAN	Q	362;362;250;81;81	ENSP00000363255:R362Q;ENSP00000259406:R362Q;ENSP00000312844:R250Q;ENSP00000340284:R81Q;ENSP00000378141:R81Q	ENSP00000312844:R250Q	R	+	2	0	RGS3	115308594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.774000	0.91767	1.454000	0.47793	0.655000	0.94253	CGG		0.677	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	Missense_Mutation	A	116268773	G	A	116268773	5	1	261	1	0	0	0	0	0	0	1	0	13306	1130	39	2	1272	2	RGS3	9	116268773	Splice_Site	SNP	G	TCGA-76-4929-01A-01D-1486-08	4079417	116268773	24944658	40	18654											
NEBL	10529	broad.mit.edu	37	chr10	21112168	21112168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttctggttttctttaactCtctttagttctggaggatca	6	20	7	8	0	6	0	1	0	5	0	7	2	6	2	0	3	1	2	0	3	2	8			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:21112168C>T	ENST00000377122.4	-	19	2327	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	644					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCTTTAACTCTCTTTAGTTC	0.284																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1930-1932)aGa>aAa		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							116	110	112					10																	21112168		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21112168C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1931G>A	10.37:g.21112168C>T	ENSP00000366326:p.Arg644Lys					NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.R644K	NM_006393	NP_006384	O76041	NEBL_HUMAN			18	2328	-			644					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1931G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447746	0.63178	.	.	ENSG00000078114	ENST00000377122	T	0.53423	0.62	5.42	4.52	0.55395	.	0.188549	0.42420	N	0.000713	T	0.59487	0.2197	M	0.92923	3.36	0.80722	D	1	P	0.37122	0.583	B	0.39068	0.289	T	0.65615	-0.6125	10	0.40728	T	0.16	.	12.9583	0.58442	0.0:0.9214:0.0:0.0786	.	644	O76041	NEBL_HUMAN	K	644	ENSP00000366326:R644K	ENSP00000366326:R644K	R	-	2	0	NEBL	21152174	1.000000	0.71417	0.734000	0.30879	0.716000	0.41182	4.721000	0.61951	1.428000	0.47296	0.655000	0.94253	AGA		0.284	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21112168	C	T	21112168	3	4	261	1	0	0	0	0	1	0	0	0	10303	913	32	3	1153	3	NEBL	10	21112168	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		21112168	114422579	41	18655											
RBP3	5949	broad.mit.edu	37	chr10	48390589	48390589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggacttgtgggggaggctCgggggtgctgggctcatagg	4	9	22	6	1	1	0	1	0	0	0	2	2	1	2	0	8	1	3	0	8	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:48390589C>T	ENST00000224600.4	-	1	402	c.289G>A	c.(289-291)Gag>Aag	p.E97K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	97	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGGAGGCTCGGGGGTGCTG	0.627																																						uc001jez.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(289-291)Gag>Aag		Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	Vitamin A(DB00162)						53	63	60					10																	48390589		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390589C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.289G>A	10.37:g.48390589C>T	ENSP00000224600:p.Glu97Lys						p.E97K	NM_002900	NP_002891	P10745	RET3_HUMAN			0	403	-			97			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.289G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.195105	0.22037	.	.	ENSG00000107618	ENST00000224600	T	0.63744	-0.06	5.56	4.66	0.58398	Interphotoreceptor retinol-binding, N-terminal (1);	0.249596	0.39834	N	0.001249	T	0.65101	0.2659	M	0.84585	2.705	0.09310	N	1	P	0.39665	0.682	B	0.39904	0.313	T	0.65203	-0.6225	10	0.72032	D	0.01	-19.2325	8.4361	0.32789	0.1524:0.7683:0.0:0.0793	.	97	P10745	RET3_HUMAN	K	97	ENSP00000224600:E97K	ENSP00000224600:E97K	E	-	1	0	RBP3	48010595	0.170000	0.23016	0.087000	0.20705	0.047000	0.14425	1.557000	0.36299	1.358000	0.45922	0.650000	0.86243	GAG		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		T	48390589	C	T	48390589	3	4	261	1	0	0	0	0	1	0	0	0	13157	893	31	2	3470	2	RBP3	10	48390589	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	27278421	48390589	87144158	42	18656											
ADO	84890	broad.mit.edu	37	chr10	64564912	64564912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcggccgcggcgcttcCgatcgcgacgcggcttctgg	2	6	19	14	9	1	0	0	0	1	0	3	2	2	0	2	6	0	2	2	6	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:64564912C>T	ENST00000373783.1	+	1	397	c.93C>T	c.(91-93)tcC>tcT	p.S31S	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	31						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCGGCGCTTCCGATCGCGACG	0.711																																						uc001jmg.3																			0				lung(2)	2						c.(91-93)tcC>tcT		Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.							8	10	10					10																	64564912		2171	4260	6431	SO:0001819	synonymous_variant	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64564912C>T	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.93C>T	10.37:g.64564912C>T							p.S31S	NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN			0	397	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		31					B1AL29	Silent	SNP	ENST00000373783.1	37	c.93C>T	CCDS7266.2																																																																																				0.711	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		T	64564912	C	T	64564912	2	4	261	1	0	0	0	0	0	0	0	1	325	639	23	2		2	ADO	10	64564912	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	16174323	64564912	70969835	43	18657											
NT5C2	22978	broad.mit.edu	37	chr10	104934623	104934623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaatacttaccgatgataGgcttctcgacgatacttttt	12	14	6	9	3	1	1	0	1	1	0	2	4	1	1	1	1	3	1	1	1	6	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:104934623G>A	ENST00000404739.3	-	1	116	c.93C>T	c.(91-93)gcC>gcT	p.A31A	NT5C2_ENST00000343289.5_Silent_p.A31A|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Silent_p.A31A			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	31					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACCGATGATAGGCTTCTCGAC	0.383																																						uc001kwo.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(91-93)gcC>gcT		Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						221	204	209					10																	104934623		2203	4300	6503	SO:0001819	synonymous_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104934623G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.93C>T	10.37:g.104934623G>A						NT5C2_uc001kwq.3_Silent_p.A31A|NT5C2_uc001kwp.3_Intron	p.A31A	NM_012229	NP_036361	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	2	286	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	31					B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	c.93C>T	CCDS7544.1																																																																																				0.383	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		A	104934623	G	A	104934623	2	1	261	1	0	0	0	0	0	0	0	1	10687	987	35	3		3	NT5C2	10	104934623	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	40369711	104934623	30600124	44	18658											
SLC22A25	387601	broad.mit.edu	37	chr11	62931319	62931319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcacagagctcctctgagGggcagctaggctatttactc	9	10	11	11	0	1	2	0	1	1	1	3	2	2	2	1	3	4	5	1	3	4	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:62931319G>C	ENST00000306494.6	-	9	1620	c.1621C>G	c.(1621-1623)Cct>Gct	p.P541A	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCCTCTGAGGGGCAGCTAGG	0.507																																						uc001nwr.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(1621-1623)Cct>Gct		Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.							130	125	127					11																	62931319		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62931319G>C	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1621C>G	11.37:g.62931319G>C	ENSP00000307443:p.Pro541Ala					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	p.P541A	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			8	1621	-			541						Missense_Mutation	SNP	ENST00000306494.6	37	c.1621C>G	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	1.644	-0.515799	0.04200	.	.	ENSG00000196600	ENST00000306494	T	0.63580	-0.05	4.1	-0.32	0.12721	.	51.435300	0.00166	U	0.000011	T	0.49081	0.1536	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30707	-0.9969	10	0.52906	T	0.07	.	3.7318	0.08496	0.198:0.0:0.471:0.331	.	541	Q6T423	S22AP_HUMAN	A	541	ENSP00000307443:P541A	ENSP00000307443:P541A	P	-	1	0	SLC22A25	62687895	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.356000	0.07661	-0.150000	0.11195	0.586000	0.80456	CCT		0.507	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		C	62931319	G	C	62931319	3	2	261	1	0	0	0	0	1	0	0	0	14454	1232	43	5	26	5	SLC22A25	11	62931319	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		62931319	72075197	45	18659											
LRRC32	2615	broad.mit.edu	37	chr11	76371933	76371933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggggctgggaggccGtctgaaaggcctcgatgctg	6	7	17	11	2	1	1	0	1	1	0	2	3	1	2	3	5	2	2	3	5	1	0	rs147861179		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:76371933G>A	ENST00000407242.2	-	3	946	c.704C>T	c.(703-705)aCg>aTg	p.T235M	LRRC32_ENST00000404995.1_Missense_Mutation_p.T235M|LRRC32_ENST00000260061.5_Missense_Mutation_p.T235M|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	235					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGGAGGCCGTCTGAAAGGC	0.617																																						uc001oxq.4																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(703-705)aCg>aTg		Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.		G	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	43	47	45		704,704	1.5	0.4	11	dbSNP_134	45	0,8584		0,0,4292	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	81,81	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	235/663,235/663	76371933	1,12983	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371933G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.704C>T	11.37:g.76371933G>A	ENSP00000384126:p.Thr235Met					LRRC32_uc001oxr.4_Missense_Mutation_p.T235M|LRRC32_uc010rsf.2_Missense_Mutation_p.T235M	p.T235M	NM_005512	NP_005503	Q14392	LRC32_HUMAN			2	947	-			235					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.704C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	7.617	0.676027	0.14841	2.27E-4	0.0	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.79653	-1.29;-1.29;-1.29	4.43	1.55	0.23275	.	0.330320	0.34828	N	0.003650	T	0.64505	0.2604	L	0.35723	1.085	0.43238	D	0.995142	P	0.36144	0.539	B	0.19391	0.025	T	0.57791	-0.7750	10	0.42905	T	0.14	.	9.2819	0.37733	0.2353:0.0:0.7647:0.0	.	235	Q14392	LRC32_HUMAN	M	235	ENSP00000260061:T235M;ENSP00000384126:T235M;ENSP00000385766:T235M	ENSP00000260061:T235M	T	-	2	0	LRRC32	76049581	0.150000	0.22732	0.420000	0.26596	0.552000	0.35366	0.182000	0.16900	0.159000	0.19401	0.462000	0.41574	ACG		0.617	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		A	76371933	G	A	76371933	3	1	261	1	0	0	0	0	1	0	0	0	8987	1145	40	1	1288	1	LRRC32	11	76371933	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	13440614	76371933	58634583	46	18660											
PIK3C2G	5288	broad.mit.edu	37	chr12	18544153	18544153	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggagtgtataaaacataTtgccagactttcacagaaac	18	9	7	7	0	1	2	1	0	0	2	1	3	1	3	1	1	3	1	1	1	6	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:18544153T>C	ENST00000266497.5	+	13	2008	c.1970T>C	c.(1969-1971)aTt>aCt	p.I657T	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I698T|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.I657T			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	657	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATAAAACATATTGCCAGACTT	0.383																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1969-1971)aTt>aCt		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							89	83	85					12																	18544153		1842	4091	5933	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18544153T>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1970T>C	12.37:g.18544153T>C	ENSP00000266497:p.Ile657Thr					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I698T|PIK3C2G_uc010sic.2_Missense_Mutation_p.I476T	p.I657T	NM_004570	NP_004561	O75747	P3C2G_HUMAN			13	2086	+		Hepatocellular(102;0.194)	657					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1970T>C	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671051	0.47781	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.67171	-0.25;-0.25;-0.25	5.03	5.03	0.67393	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	0.077706	0.49305	D	0.000145	T	0.79209	0.4407	M	0.71206	2.165	0.45390	D	0.998377	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71414	0.973;0.954;0.973	T	0.80926	-0.1164	10	0.59425	D	0.04	-19.1021	12.9215	0.58234	0.0:0.0:0.0:1.0	.	697;698;657	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	T	657;657;698	ENSP00000404845:I657T;ENSP00000266497:I657T;ENSP00000445381:I698T	ENSP00000266497:I657T	I	+	2	0	PIK3C2G	18435420	0.986000	0.35501	1.000000	0.80357	0.839000	0.47603	4.552000	0.60747	2.237000	0.73441	0.528000	0.53228	ATT		0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		C	18544153	T	C	18544153	3	2	261	1	0	0	0	0	1	0	0	0	11911	1493	52	4	2020	4	PIK3C2G	12	18544153	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08		18544153	115307742	47	18661											
KSR2	283455	broad.mit.edu	37	chr12	117962680	117962680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatggccaggtgaggCgggctcatgcaggcacccat	8	7	16	10	1	1	3	1	3	0	0	1	3	1	3	2	5	1	3	2	5	0	0	rs140960062	byFrequency	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:117962680C>T	ENST00000339824.5	-	14	2923	c.2196G>A	c.(2194-2196)ccG>ccA	p.P732P	KSR2_ENST00000302438.5_Silent_p.P429P|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.P703P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGTGAGGCGGGCTCATGC	0.557													C|||	3	0.000599042	0	0	5008	,	,		18539	0.002		0.001	False		,,,				2504	0					uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2107-2109)ccG>ccA		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							46	47	47					12																	117962680		2065	4182	6247	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962680C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2196G>A	12.37:g.117962680C>T							p.P703P	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			13	2164	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		732			Protein kinase.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.2109G>A																																																																																					0.557	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	117962680	C	T	117962680	2	4	261	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	117962680	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	99418527	117962680	15889215	48	18662											
TMEM132D	121256	broad.mit.edu	37	chr12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgggggtcccctccGgctggtccacggacttcctc	3	8	12	18	3	0	0	0	0	0	0	6	1	5	1	6	5	0	2	6	5	0	1	rs146143180		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:130184667G>A	ENST00000422113.2	-	2	982	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P219L(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCCCCTCCGGCTGGTCCAC	0.682																																						uc009zyl.1																			2	Substitution - Missense(2)	p.P219L(4)|p.P219P(1)|p.P219T(1)|p.Q218H(1)	ovary(1)|prostate(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(655-657)cCg>cTg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.		G	LEU/PRO	0,4406		0,0,2203	38	40	39		656	2.5	0	12	dbSNP_134	39	3,8597	3.0+/-9.4	0,3,4297	no	missense	TMEM132D	NM_133448.2	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	219/1100	130184667	3,13003	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184667G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.656C>T	12.37:g.130184667G>A	ENSP00000408581:p.Pro219Leu						p.P219L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	984	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	219					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.656C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633920	0.03584	0.0	3.49E-4	ENSG00000151952	ENST00000422113	T	0.10860	2.83	5.35	2.46	0.29980	.	0.521615	0.18832	N	0.129936	T	0.08714	0.0216	L	0.40543	1.245	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.34576	-0.9823	9	.	.	.	-7.5313	9.0373	0.36296	0.069:0.0:0.6664:0.2646	.	219	Q14C87	T132D_HUMAN	L	219	ENSP00000408581:P219L	.	P	-	2	0	TMEM132D	128750620	0.002000	0.14202	0.000000	0.03702	0.022000	0.10575	1.224000	0.32539	0.212000	0.20703	-0.175000	0.13238	CCG		0.682	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130184667	G	A	130184667	3	1	261	1	0	0	0	0	1	0	0	0	16044	1116	39	2	2675	2	TMEM132D	12	130184667	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	12221987	130184667	3667228	49	18663											
SFRS8	6433	broad.mit.edu	37	chr12	132249171	132249171	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcagttgccccacccTgtgtagttgttgaggagaag	9	9	12	11	0	0	2	0	1	0	1	0	3	0	2	4	1	2	5	4	1	2	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:132249171T>A	ENST00000261674.4	+	12	2032	c.1891T>A	c.(1891-1893)Tgt>Agt	p.C631S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.C631S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	631					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGCCCCACCCTGTGTAGTTGT	0.423																																						uc001uja.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1891-1893)Tgt>Agt		Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.							81	69	73					12																	132249171		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132249171T>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1891T>A	12.37:g.132249171T>A	ENSP00000261674:p.Cys631Ser					SFSWAP_uc010tbn.1_Missense_Mutation_p.C631S|SFSWAP_uc001ujb.1_Missense_Mutation_p.C424S	p.C631S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN			11	2031	+			631					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1891T>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	T	1.943	-0.443031	0.04604	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.19938	3.12;2.11;3.1	5.09	3.94	0.45596	.	0.529435	0.22602	N	0.057954	T	0.08313	0.0207	N	0.08118	0	0.24024	N	0.996132	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38001	-0.9681	10	0.07482	T	0.82	-5.1053	6.7346	0.23403	0.1357:0.075:0.0:0.7893	.	631;631	F5H6B8;Q12872	.;SFSWA_HUMAN	S	631;424;631	ENSP00000261674:C631S;ENSP00000443045:C424S;ENSP00000437738:C631S	ENSP00000261674:C631S	C	+	1	0	SFSWAP	130815124	1.000000	0.71417	0.210000	0.23637	0.981000	0.71138	2.122000	0.41987	0.887000	0.36136	0.402000	0.26972	TGT		0.423	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		A	132249171	T	A	132249171	3	1	261	1	0	0	0	0	1	0	0	0	14183	1580	55	5	1937	5	SFRS8	12	132249171	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	2064504	132249171	1602724	50	18664											
LRFN5	145581	broad.mit.edu	37	chr14	42356720	42356720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacacatgagatgagaGtcctggagggacaaagggca	14	6	14	7	0	1	2	1	2	0	2	2	6	2	4	1	3	1	1	1	3	2	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:42356720G>T	ENST00000298119.4	+	3	2081	c.892G>T	c.(892-894)Gtc>Ttc	p.V298F	LRFN5_ENST00000554120.1_Missense_Mutation_p.V298F|LRFN5_ENST00000554171.1_Missense_Mutation_p.V298F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	298	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGATGAGAGTCCTGGAGGG	0.478										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(892-894)Gtc>Ttc		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							109	104	106					14																	42356720		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356720G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.892G>T	14.37:g.42356720G>T	ENSP00000298119:p.Val298Phe	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.V298F	p.V298F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2090	+			298			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.892G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669904	0.67814	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.72167	-0.63;-0.63;-0.63	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000104	D	0.88876	0.6556	H	0.95816	3.725	0.80722	D	1	D;D	0.71674	0.97;0.998	D;D	0.79784	0.955;0.993	D	0.91716	0.5385	10	0.72032	D	0.01	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	298;298	G3V364;Q96NI6	.;LRFN5_HUMAN	F	298	ENSP00000298119:V298F;ENSP00000451897:V298F;ENSP00000451067:V298F	ENSP00000298119:V298F	V	+	1	0	LRFN5	41426470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GTC		0.478	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42356720	G	T	42356720	3	4	261	1	0	0	0	0	1	0	0	0	8941	1029	36	5	894	5	LRFN5	14	42356720	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		42356720	64992820	51	18665											
MOAP1	64112	broad.mit.edu	37	chr14	93650454	93650454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtctgtactcccccaagGgagctaaaccagcctgcaga	11	6	10	14	0	1	1	0	0	1	1	2	2	2	2	4	1	5	4	4	1	4	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:93650454G>A	ENST00000556883.1	-	2	618	c.134C>T	c.(133-135)cCc>cTc	p.P45L	RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.P45L|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	45					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctcccccaagggagctaaacc	0.557																																						uc021saw.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(133-135)cCc>cTc		Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.							118	129	126					14																	93650454		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650454G>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.134C>T	14.37:g.93650454G>A	ENSP00000451594:p.Pro45Leu					MOAP1_uc001ybj.3_Missense_Mutation_p.P45L|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	p.P45L	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	0	134	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	45					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.134C>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319179	0.41096	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.18960	2.18;2.18	3.46	1.51	0.23008	.	.	.	.	.	T	0.36963	0.0986	M	0.71036	2.16	0.09310	N	1	D	0.59357	0.985	P	0.61397	0.888	T	0.11012	-1.0605	9	0.87932	D	0	-1.522	6.0068	0.19551	0.0:0.2135:0.5662:0.2204	.	45	Q96BY2	MOAP1_HUMAN	L	45	ENSP00000298894:P45L;ENSP00000451594:P45L	ENSP00000298894:P45L	P	-	2	0	MOAP1	92720207	0.007000	0.16637	0.004000	0.12327	0.530000	0.34684	0.596000	0.24044	0.428000	0.26173	0.650000	0.86243	CCC		0.557	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			A	93650454	G	A	93650454	3	1	261	1	0	0	0	0	1	0	0	0	9680	1232	43	3	925	3	MOAP1	14	93650454	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	51293734	93650454	13699086	52	18666											
RBBP6	5930	broad.mit.edu	37	chr16	24581488	24581489	+	Frame_Shift_Del	DEL	TT	TT	-																															gaaaaaggcgtagataaagaTtttgagtcttcttcaatgaa																										TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:24581488_24581489delTT	ENST00000319715.4	+	17	3909_3910	c.3477_3478delTT	c.(3475-3480)gattttfs	p.F1160fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.F1126fs|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1160					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TAGATAAAGATTTTGAGTCTTC	0.342																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3475-3480)gattttfs		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581488_24581489delTT		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3477_3478delTT	16.37:g.24581490_24581491delTT	ENSP00000317872:p.Phe1160fs					RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D992fs	p.D1159fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	16	4517_4518	+			1159					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	c.3477_3478delTT	CCDS10621.1																																																																																				0.342	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		-	24581489	TT	-	24581488	7	5	261	1	0	1	0	1	0	0	0	0	13103	1490	52	0	3597	0	RBBP6	16	24581488	Frame_Shift_Del	DEL	TT	TCGA-76-4929-01A-01D-1486-08		24581488	65773265	53	18667											
IRX5	10265	broad.mit.edu	37	chr16	54967470	54967470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagccgggcgtcgccggcCccggcgccgtcacgctcgcc	2	3	16	20	9	1	0	1	0	0	0	3	0	1	0	6	4	1	2	6	4	0	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:54967470C>T	ENST00000394636.4	+	3	1474	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	IRX5_ENST00000558597.1_Silent_p.A313A|IRX5_ENST00000560154.1_Silent_p.A159A|IRX5_ENST00000320990.5_Silent_p.A378A|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	379					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CGTCGCCGGCCCCGGCGCCGT	0.721																																						uc002ehv.3																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1135-1137)gcC>gcT		Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.							9	11	11					16																	54967470		2163	4236	6399	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967470C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1137C>T	16.37:g.54967470C>T						IRX5_uc021tin.1_Silent_p.A378A|IRX5_uc002ehw.3_Silent_p.A313A	p.A379A	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	1137	+			379					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.1137C>T	CCDS10751.1																																																																																				0.721	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			T	54967470	C	T	54967470	2	4	261	1	0	0	0	0	0	0	0	1	7847	610	22	3		3	IRX5	16	54967470	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	30385982	54967470	35387283	54	18668											
CLEC3A	10143	broad.mit.edu	37	chr16	78064624	78064624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccgtgcacagcctaaCggtggcaagcgagaaaactg	12	5	14	10	3	0	1	0	0	0	1	0	3	0	2	2	3	5	2	2	3	4	1	rs371337987		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:78064624C>T	ENST00000575655.1	+	3	561	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Silent_p.N169N|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CACAGCCTAACGGTGGCAAGC	0.522																																						uc002ffh.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(478-480)aaC>aaT		Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.		C		0,4396		0,0,2198	132	119	123		480	-4.2	0.1	16		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLEC3A	NM_005752.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		160/198	78064624	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064624C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.480C>T	16.37:g.78064624C>T						CLEC3A_uc021tlr.1_Silent_p.N108N	p.N160N	NM_005752	NP_005743	O75596	CLC3A_HUMAN			2	561	+			160			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Silent	SNP	ENST00000575655.1	37	c.480C>T																																																																																					0.522	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		T	78064624	C	T	78064624	2	4	261	1	0	0	0	0	0	0	0	1	3510	535	19	1		1	CLEC3A	16	78064624	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	23097154	78064624	12290129	55	18669											
ACAP1	9744	broad.mit.edu	37	chr17	7253543	7253543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggaaacagccaacgctGacatcgtcaccctgtaagaa	14	6	8	13	2	1	2	1	1	0	1	2	3	1	3	3	1	3	2	3	1	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7253543G>A	ENST00000158762.3	+	20	2265	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	RP11-542C16.1_ENST00000572417.1_RNA|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	687	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCCAACGCTGACATCGTCAC	0.682																																						uc002ggd.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(2059-2061)Gac>Aac		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.							66	66	66					17																	7253543		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7253543G>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.2059G>A	17.37:g.7253543G>A	ENSP00000158762:p.Asp687Asn					KCTD11_uc002gge.4_5'Flank	p.D687N	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			19	2265	+			687			Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.2059G>A	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540630	0.96474	.	.	ENSG00000072818	ENST00000158762	T	0.36340	1.26	5.16	5.16	0.70880	Ankyrin repeat-containing domain (3);	0.104708	0.64402	D	0.000005	T	0.64735	0.2625	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69266	-0.5190	10	0.62326	D	0.03	.	16.1815	0.81909	0.0:0.0:1.0:0.0	.	687	Q15027	ACAP1_HUMAN	N	687	ENSP00000158762:D687N	ENSP00000158762:D687N	D	+	1	0	ACAP1	7194267	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.664000	0.91139	2.681000	0.91329	0.448000	0.29417	GAC		0.682	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		A	7253543	G	A	7253543	3	1	261	1	0	0	0	0	1	0	0	0	118	1290	45	3	2137	3	ACAP1	17	7253543	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		7253543	73941667	56	18670											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							62	48	53					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank	p.R342*	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1218	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574003	G	A	7574003	4	1	261	1	0	0	0	0	0	1	0	0	16378	1124	39	2	165	2	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	320460	7574003	73621207	57	18671											
TP53	7157	broad.mit.edu	37	chr17	7578476	7578476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggacgcgggtgccgggcgGgggtgtggaatcaacccaca	7	4	19	11	5	1	0	1	0	0	0	1	2	1	2	2	6	2	0	2	6	2	0	rs137852790|rs137852791		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7578476G>A	ENST00000269305.4	-	5	643	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S	TP53_ENST00000455263.2_Missense_Mutation_p.P152S|TP53_ENST00000420246.2_Missense_Mutation_p.P152S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P152S|TP53_ENST00000359597.4_Missense_Mutation_p.P152S|TP53_ENST00000445888.2_Missense_Mutation_p.P152S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152S(22)|p.0?(8)|p.P152T(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.?(5)|p.P152fs*14(5)|p.P152A(2)|p.P152fs*18(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152L(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCCGGGCGGGGGTGTGGAA	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		77	Substitution - Missense(32)|Deletion - Frameshift(21)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(5)|Unknown(5)	p.P151S(66)|p.P152L(64)|p.P152S(44)|p.P151H(27)|p.P152fs*18(20)|p.P152T(14)|p.P151T(14)|p.P151P(12)|p.P152fs*29(10)|p.P152fs*14(10)|p.P151A(9)|p.0?(8)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.P152R(6)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152A(4)|p.P152fs*28(4)|p.P152Q(4)|p.P151_V173del23(2)|p.P152_P153del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152del(2)|p.Q144_G154del11(2)|p.P153fs*16(1)|p.P151del(1)|p.T57fs*16(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	skin(17)|large_intestine(8)|lung(7)|ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|breast(5)|bone(4)|stomach(3)|urinary_tract(3)|oesophagus(3)|liver(2)|soft_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(454-456)Ccg>Tcg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							52	53	53					17																	7578476		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578476G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.454C>T	17.37:g.7578476G>A	ENSP00000269305:p.Pro152Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.3_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.2_Missense_Mutation_p.P113S	p.P152S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	648	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.454C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779594	0.70107	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.987;0.986;0.999;0.973;0.995;0.989;0.966	D	0.96400	0.9296	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152S;ENSP00000352610:P152S;ENSP00000269305:P152S;ENSP00000398846:P152S;ENSP00000391127:P152S;ENSP00000391478:P152S;ENSP00000425104:P20S;ENSP00000423862:P59S;ENSP00000424104:P152S	ENSP00000269305:P152S	P	-	1	0	TP53	7519201	1.000000	0.71417	0.969000	0.41365	0.035000	0.12851	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CCG		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578476	G	A	7578476	3	1	261	1	0	0	0	0	1	0	0	0	16378	1232	43	3	844	3	TP53	17	7578476	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	4473	7578476	73616734	58	18672											
PFAS	5198	broad.mit.edu	37	chr17	8170745	8170745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggcagtaatggagaccgGgagatggccgatgccttcca	10	6	16	9	2	0	2	0	0	0	2	1	6	1	2	4	4	1	2	4	4	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:8170745G>A	ENST00000314666.6	+	25	3364	c.3231G>A	c.(3229-3231)cgG>cgA	p.R1077R	PFAS_ENST00000545834.1_Silent_p.R653R	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1077	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	ATGGAGACCGGGAGATGGCCG	0.612																																						uc002gkr.3																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3229-3231)cgG>cgA		Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						89	96	94					17																	8170745		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170745G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3231G>A	17.37:g.8170745G>A						PFAS_uc010vuv.2_Silent_p.R653R|PFAS_uc002gks.3_Silent_p.R156R	p.R1077R	NM_012393	NP_036525	O15067	PUR4_HUMAN			24	3372	+			1077			Glutamine amidotransferase type-1.		A6H8V8	Silent	SNP	ENST00000314666.6	37	c.3231G>A	CCDS11136.1																																																																																				0.612	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			A	8170745	G	A	8170745	2	1	261	1	0	0	0	0	0	0	0	1	11754	1219	43	3		3	PFAS	17	8170745	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	592269	8170745	73024465	59	18673											
KRT13	3860	broad.mit.edu	37	chr17	39661389	39661389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgcttcaggtgccaGtcacggatcttcacctccag	6	10	11	14	1	5	0	3	0	2	0	6	1	6	1	3	3	2	2	3	3	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:39661389G>A	ENST00000246635.3	-	1	460	c.414C>T	c.(412-414)gaC>gaT	p.D138D	KRT13_ENST00000587544.1_Silent_p.D138D|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Silent_p.D138D|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	138	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCAGGTGCCAGTCACGGATCT	0.602																																						uc002hwu.1																			0		p.R137H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(412-414)gaC>gaT		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							124	115	118					17																	39661389		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661389G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.414C>T	17.37:g.39661389G>A						KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc010wfr.2_Silent_p.D31D|KRT13_uc010cxo.3_Silent_p.D138D|KRT13_uc021txk.1_Silent_p.D31D	p.D138D	NM_153490	NP_705694	P13646	K1C13_HUMAN			0	477	-		Breast(137;0.000286)	138			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.414C>T	CCDS11396.1																																																																																				0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		A	39661389	G	A	39661389	2	1	261	1	0	0	0	0	0	0	0	1	8450	1020	36	3		3	KRT13	17	39661389	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	31490644	39661389	41533821	60	18674											
FMNL1	752	broad.mit.edu	37	chr17	43320637	43320637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaagaacttggccatcacCctgcggaagggcaacctggg	10	5	13	13	1	1	1	1	0	0	1	1	2	1	2	4	4	3	1	4	4	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:43320637C>T	ENST00000331495.3	+	17	2499	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Silent_p.T299T|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Silent_p.T721T|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	721	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGCCATCACCCTGCGGAAGG	0.642																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2161-2163)acC>acT		Homo sapiens formin-like 1 (FMNL1), mRNA.							60	55	56					17																	43320637		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320637C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2163C>T	17.37:g.43320637C>T						FMNL1_uc002iiq.3_Silent_p.T299T|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.T48T	p.T721T	NM_005892	NP_005883	O95466	FMNL_HUMAN			16	2363	+			721			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.2163C>T	CCDS11497.1																																																																																				0.642	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43320637	C	T	43320637	2	4	261	1	0	0	0	0	0	0	0	1	5951	610	22	3		3	FMNL1	17	43320637	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	3659248	43320637	37874573	61	18675											
RGS9	8787	broad.mit.edu	37	chr17	63193312	63193312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgaattgatccgagaccCcaaaggtcgacagagcttcc	12	6	10	13	3	0	3	0	1	0	2	3	6	2	3	4	1	2	1	4	1	2	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:63193312C>T	ENST00000262406.9	+	13	996	c.929C>T	c.(928-930)cCc>cTc	p.P310L	RGS9_ENST00000443584.3_Missense_Mutation_p.P307L|RGS9_ENST00000449996.3_Missense_Mutation_p.P307L	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	310	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCCGAGACCCCAAAGGTCGA	0.423																																						uc002jfe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(928-930)cCc>cTc		Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.							60	59	59					17																	63193312		1877	4108	5985	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63193312C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.929C>T	17.37:g.63193312C>T	ENSP00000262406:p.Pro310Leu					RGS9_uc021ubw.1_Missense_Mutation_p.P307L|RGS9_uc010dem.3_Missense_Mutation_p.P307L|RGS9_uc002jfd.3_Missense_Mutation_p.P307L|RGS9_uc002jfg.3_Missense_Mutation_p.P81L	p.P310L	NM_003835	NP_003826	O75916	RGS9_HUMAN			12	1132	+			310			RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.929C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852122	0.32699	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T	0.37411	1.2;1.2	5.27	5.27	0.74061	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.115218	0.64402	D	0.000011	T	0.62816	0.2459	M	0.76574	2.34	0.80722	D	1	D;P;P	0.89917	1.0;0.923;0.906	D;P;P	0.97110	1.0;0.678;0.55	T	0.66160	-0.5993	10	0.66056	D	0.02	.	18.9073	0.92467	0.0:1.0:0.0:0.0	.	310;310;307	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	L	310;307;310	ENSP00000262406:P310L;ENSP00000396329:P307L	ENSP00000262406:P310L	P	+	2	0	RGS9	60623774	0.998000	0.40836	1.000000	0.80357	0.835000	0.47333	3.762000	0.55250	2.468000	0.83385	0.563000	0.77884	CCC		0.423	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		T	63193312	C	T	63193312	3	4	261	1	0	0	0	0	1	0	0	0	13313	623	22	3	979	3	RGS9	17	63193312	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	19872675	63193312	18001898	62	18676											
ICAM5	7087	broad.mit.edu	37	chr19	10405102	10405102	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagatggatgaatctacCtgcccaagtcaccagacgtg	11	7	11	12	2	2	3	1	1	1	2	2	5	2	4	4	2	2	0	4	2	3	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr19:10405102C>A	ENST00000221980.4	+	9	2079	c.2016C>A	c.(2014-2016)acC>acA	p.T672T		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	672	Ig-like C2-type 8.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ATGAATCTACCTGCCCAAGTC	0.692																																						uc002mnu.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(2014-2016)acC>acA		Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.							36	41	39					19																	10405102		2203	4300	6503	SO:0001819	synonymous_variant	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10405102C>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2016C>A	19.37:g.10405102C>A						ICAM5_uc002mnv.4_Silent_p.T547T	p.T672T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		8	2081	+			672			Ig-like C2-type 8.		Q9Y6F3	Silent	SNP	ENST00000221980.4	37	c.2016C>A	CCDS12233.1																																																																																				0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		A	10405102	C	A	10405102	2	1	261	1	0	0	0	0	0	0	0	1	7483	668	24	5		5	ICAM5	19	10405102	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		10405102	48723881	63	18677											
NANP	140838	broad.mit.edu	37	chr20	25597030	25597030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaataacattcttcaGccaattttctattggctgca	14	13	6	8	0	3	0	1	0	2	0	3	1	3	1	1	2	3	2	1	2	5	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:25597030G>C	ENST00000304788.3	-	2	504	c.278C>G	c.(277-279)gCt>gGt	p.A93G		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	93					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						ACATTCTTCAGCCAATTTTCT	0.403																																						uc002wuy.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(277-279)gCt>gGt		Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA.							72	74	73					20																	25597030		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25597030G>C	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"chromosome 20 open reading frame 147", "haloacid dehalogenase-like hydrolase domain containing 4"	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.278C>G	20.37:g.25597030G>C	ENSP00000302441:p.Ala93Gly						p.A93G	NM_152667	NP_689880	Q8TBE9	NANP_HUMAN			1	342	-			93					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.278C>G	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402572	0.83230	.	.	ENSG00000170191	ENST00000304788	T	0.05996	3.36	5.28	5.28	0.74379	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.049618	0.85682	D	0.000000	T	0.16811	0.0404	L	0.48877	1.53	0.80722	D	1	D	0.58268	0.982	D	0.63957	0.92	T	0.03043	-1.1079	10	0.23891	T	0.37	-20.2061	16.4739	0.84127	0.0:0.0:1.0:0.0	.	93	Q8TBE9	NANP_HUMAN	G	93	ENSP00000302441:A93G	ENSP00000302441:A93G	A	-	2	0	NANP	25545030	1.000000	0.71417	0.989000	0.46669	0.911000	0.54048	8.461000	0.90372	2.469000	0.83416	0.485000	0.47835	GCT		0.403	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		C	25597030	G	C	25597030	3	2	261	1	0	0	0	0	1	0	0	0	10154	971	34	5	472	5	NANP	20	25597030	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		25597030	37428490	64	18678											
CDH4	1002	broad.mit.edu	37	chr20	60509217	60509217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggccggtgggcgctgagcCccagtacccgatcaggccca	6	4	15	16	4	1	1	1	1	0	0	1	2	1	1	5	4	2	2	5	4	1	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:60509217C>T	ENST00000360469.5	+	15	2571	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	CDH4_ENST00000543233.1_Missense_Mutation_p.P754L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	828					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGCGCTGAGCCCCAGTACCCG	0.677																																						uc002ybn.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2482-2484)cCc>cTc		Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.							28	32	31					20																	60509217		2202	4295	6497	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60509217C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2483C>T	20.37:g.60509217C>T	ENSP00000353656:p.Pro828Leu					CDH4_uc002ybr.2_Missense_Mutation_p.P791L|CDH4_uc002ybp.2_Missense_Mutation_p.P754L	p.P828L	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		14	2571	+			828					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2483C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708151	0.89018	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.74947	-0.89;-0.89	4.52	4.52	0.55395	Cadherin, cytoplasmic domain (1);	0.057469	0.64402	D	0.000001	T	0.77458	0.4133	L	0.39898	1.24	0.80722	D	1	P	0.45634	0.863	P	0.54856	0.762	T	0.76072	-0.3093	9	.	.	.	.	17.2442	0.87022	0.0:1.0:0.0:0.0	.	828	P55283	CADH4_HUMAN	L	828;736;754	ENSP00000353656:P828L;ENSP00000443301:P754L	.	P	+	2	0	CDH4	59942612	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	5.677000	0.68142	2.054000	0.61138	0.491000	0.48974	CCC		0.677	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60509217	C	T	60509217	3	4	261	1	0	0	0	0	1	0	0	0	3112	623	22	3	2541	3	CDH4	20	60509217	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	34912187	60509217	2516303	65	18679											
NTSR1	4923	broad.mit.edu	37	chr20	61341151	61341151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggctcgcctcggccCtgctggcggtgcctatgctg	2	10	13	16	3	1	0	0	0	1	0	3	0	1	0	4	4	3	3	4	4	1	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:61341151C>A	ENST00000370501.3	+	1	963	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	198					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCCTCGGCCCTGCTGGCGGT	0.672																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(592-594)Ctg>Atg		Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.							62	51	55					20																	61341151		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341151C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.592C>A	20.37:g.61341151C>A	ENSP00000359532:p.Leu198Met						p.L198M	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		0	963	+	Breast(26;3.65e-08)		198					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.592C>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140219	0.56936	.	.	ENSG00000101188	ENST00000370501	T	0.48522	0.81	5.15	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.253598	0.34507	N	0.003917	T	0.49677	0.1571	M	0.76938	2.355	0.30798	N	0.740198	P	0.40144	0.704	B	0.40864	0.342	T	0.57195	-0.7853	10	0.37606	T	0.19	-19.995	10.4968	0.44783	0.1506:0.7043:0.1451:0.0	.	198	P30989	NTR1_HUMAN	M	198	ENSP00000359532:L198M	ENSP00000359532:L198M	L	+	1	2	NTSR1	60811596	1.000000	0.71417	0.922000	0.36590	0.994000	0.84299	2.464000	0.45067	1.153000	0.42468	0.561000	0.74099	CTG		0.672	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			A	61341151	C	A	61341151	3	1	261	1	0	0	0	0	1	0	0	0	10710	680	24	5	594	5	NTSR1	20	61341151	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	831934	61341151	1684369	66	18680											
GAB4	128954	broad.mit.edu	37	chr22	17450832	17450832	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccttgaaggggtacacaCcctcattatccgcctcagag	9	9	10	13	1	2	2	2	1	0	1	3	2	3	2	4	2	2	1	4	2	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:17450832C>T	ENST00000400588.1	-	4	1045		c.e4+1		GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGGTACACACCCTCATTATC	0.597																																						uc002zlw.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.e4+1		Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.							81	87	85					22																	17450832		2159	4283	6442	SO:0001630	splice_region_variant	128954							g.chr22:17450832C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.937+1G>A	22.37:g.17450832C>T						GAB4_uc010gqs.1_Intron	p.A313_splice	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			4	1045	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	313						Splice_Site	SNP	ENST00000400588.1	37	c.937_splice	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	7.527	0.657951	0.14645	.	.	ENSG00000215568	ENST00000400588	.	.	.	1.97	0.804	0.18697	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7253	0.12938	0.0:0.2311:0.0:0.7689	.	.	.	.	.	-1	.	.	.	-	.	.	GAB4	15830832	1.000000	0.71417	0.998000	0.56505	0.282000	0.26991	5.264000	0.65513	0.155000	0.19261	0.411000	0.27672	.		0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	Intron	T	17450832	C	T	17450832	5	4	261	1	0	0	0	0	0	0	1	0	6151	521	18	3	814	3	GAB4	22	17450832	Splice_Site	SNP	C	TCGA-76-4929-01A-01D-1486-08		17450832	33853734	67	18681											
DEPDC5	9681	broad.mit.edu	37	chr22	32234828	32234828	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagcccactctatagcCgaggtgagtttttctccttg	7	13	10	11	1	2	1	0	1	2	0	3	2	2	1	3	1	2	3	3	1	3	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:32234828C>T	ENST00000382112.3	+	26	2555	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.R838*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.R760*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.R829*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.R838*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.R829*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.R838*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.R760*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	838					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCTATAGCCGAGGTGAGTT	0.458																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2512-2514)Cga>Tga		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							94	93	94					22																	32234828		1858	4101	5959	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32234828C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2485C>T	22.37:g.32234828C>T	ENSP00000371546:p.Arg829*					DEPDC5_uc011als.2_Nonsense_Mutation_p.R760*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R829*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R829*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R278*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.2_Intron	p.R838*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			26	2714	+			829					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.2512C>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.938622|7.938622	0.98571|0.98571	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|.	.|.	.|.	5.65|5.65	2.13|2.13	0.27403|0.27403	.|.	.|0.064498	.|0.64402	.|D	.|0.000012	T|.	0.33673|.	0.0871|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07121|.	-1.0789|.	4|.	.|0.06625	.|T	.|0.88	.|.	10.0115|10.0115	0.41990|0.41990	0.4579:0.4291:0.113:0.0|0.4579:0.4291:0.113:0.0	.|.	.|.	.|.	.|.	L|X	235|760;838;829;760;838;760;829;838;829	.|.	.|ENSP00000266091:R838X	P|R	+|+	2|1	0|2	DEPDC5|DEPDC5	30564828|30564828	0.867000|0.867000	0.29959|0.29959	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	0.486000|0.486000	0.22340|0.22340	0.677000|0.677000	0.31305|0.31305	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.458	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		T	32234828	C	T	32234828	4	4	261	1	0	0	0	0	0	1	0	0	4442	644	23	2	2605	2	DEPDC5	22	32234828	Nonsense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	14783996	32234828	19069738	68	18682											
GYG2	8908	broad.mit.edu	37	chrX	2799206	2799206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtatcgactacatggggaaGgacgcgtttgctcgcatcca	9	9	12	11	5	0	0	0	0	0	0	3	3	1	2	1	3	2	4	1	3	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:2799206G>A	ENST00000381163.3	+	12	1740	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	GYG2_ENST00000338623.5_Silent_p.K450K|GYG2_ENST00000542787.1_Silent_p.K415K|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Silent_p.K455K	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	486					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGGGGAAGGACGCGTTTG	0.552																																						uc004cqs.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1456-1458)aaG>aaA		Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.							149	89	109					X																	2799206		2203	4298	6501	SO:0001819	synonymous_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2799206G>A	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1458G>A	X.37:g.2799206G>A						GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqx.2_Silent_p.K415K|GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc010ndc.1_Silent_p.K264K	p.K486K	NM_003918	NP_003909	O15488	GLYG2_HUMAN			11	1740	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	486					B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	c.1458G>A	CCDS14121.1																																																																																				0.552	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		A	2799206	G	A	2799206	2	1	261	1	0	0	0	0	0	0	0	1	6906	991	35	3		3	GYG2	23	2799206	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08		2799206	152471354	69	18683											
MXRA5	25878	broad.mit.edu	37	chrX	3229254	3229254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctcatctcgtccttcccGacctgattttcagcaaagca	9	12	5	15	2	3	1	2	1	2	0	7	2	5	1	3	0	2	2	3	0	1	3	rs369770483		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:3229254G>A	ENST00000217939.6	-	7	7144	c.6990C>T	c.(6988-6990)gtC>gtT	p.V2330V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2330	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTCCTTCCCGACCTGATTTT	0.542																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6988-6990)gtC>gtT		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.		G		1,3834		0,1,1631,571	206	170	182		6990	-8.3	0	X		182	0,6728		0,0,2428,1872	no	coding-synonymous	MXRA5	NM_015419.3		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		2330/2829	3229254	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229254G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6990C>T	X.37:g.3229254G>A							p.V2330V	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	7147	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2330			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6990C>T	CCDS14124.1																																																																																				0.542	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3229254	G	A	3229254	2	1	261	1	0	0	0	0	0	0	0	1	10003	1045	37	2		2	MXRA5	23	3229254	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	430048	3229254	152041306	70	18684											
ARHGAP6	395	broad.mit.edu	37	chrX	11272748	11272748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcagccgggccctcTccagctctgagagactctgg	5	9	11	16	1	3	2	0	1	3	1	5	3	4	2	4	2	3	2	4	2	0	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:11272748T>C	ENST00000337414.4	-	2	1540	c.668A>G	c.(667-669)gAg>gGg	p.E223G	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E255G|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E223G|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E20G|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E32G|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E48G|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E20G	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	223					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGGGCCCTCTCCAGCTCTGA	0.522																																						uc004cup.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(667-669)gAg>gGg		Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.							63	60	61					X																	11272748		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11272748T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.668A>G	X.37:g.11272748T>C	ENSP00000338967:p.Glu223Gly					ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G	p.E223G	NM_013427	NP_038286	O43182	RHG06_HUMAN			1	1541	-			223					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.668A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828276	0.90955	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.70986	-0.43;0.1;0.1;-0.49;-0.43;-0.53;0.0;0.51	4.94	4.94	0.65067	.	0.000000	0.52532	D	0.000074	T	0.81621	0.4861	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.999	D	0.83701	0.0182	10	0.87932	D	0	.	13.8014	0.63202	0.0:0.0:0.0:1.0	.	32;20;223;223;223	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	G	48;20;20;223;59;223;32;255	ENSP00000438135:E48G;ENSP00000370112:E20G;ENSP00000302312:E20G;ENSP00000338967:E223G;ENSP00000370093:E59G;ENSP00000370094:E223G;ENSP00000389394:E32G;ENSP00000370108:E255G	ENSP00000302312:E20G	E	-	2	0	ARHGAP6	11182669	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.538000	0.82048	1.634000	0.50500	0.486000	0.48141	GAG		0.522	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		C	11272748	T	C	11272748	3	2	261	1	0	0	0	0	1	0	0	0	887	1551	54	4	2426	4	ARHGAP6	23	11272748	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	8043494	11272748	143997812	71	18685											
CDKL5	6792	broad.mit.edu	37	chrX	18627018	18627018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcttccttccatacaCgccagaagtctgaggtatgt	9	11	8	13	1	2	2	0	1	2	1	4	2	4	2	4	1	1	2	4	1	3	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:18627018C>T	ENST00000379989.3	+	14	2317	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R678C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	678					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTTCCATACACGCCAGAAGTC	0.433																																						uc004cym.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2032-2034)Cgc>Tgc		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							68	57	61					X																	18627018		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18627018C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2032C>T	X.37:g.18627018C>T	ENSP00000369325:p.Arg678Cys					CDKL5_uc004cyn.3_Missense_Mutation_p.R678C|CDKL5_uc022btn.1_Missense_Mutation_p.R669C	p.R678C	NM_003159	NP_003150	O76039	CDKL5_HUMAN			12	2285	+	Hepatocellular(33;0.183)		678					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2032C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.802395	0.50315	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75477	-0.94;-0.94	5.81	3.99	0.46301	.	0.099352	0.64402	D	0.000001	T	0.67515	0.2901	L	0.32530	0.975	0.39267	D	0.964324	D	0.61697	0.99	P	0.46885	0.53	T	0.70149	-0.4951	10	0.87932	D	0	-9.8963	10.7377	0.46135	0.1557:0.7103:0.134:0.0	.	678	O76039	CDKL5_HUMAN	C	678	ENSP00000369332:R678C;ENSP00000369325:R678C	ENSP00000369325:R678C	R	+	1	0	CDKL5	18536939	0.527000	0.26306	0.190000	0.23270	0.296000	0.27459	1.064000	0.30579	0.568000	0.29311	0.519000	0.50382	CGC		0.433	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		T	18627018	C	T	18627018	3	4	261	1	0	0	0	0	1	0	0	0	3157	536	19	1	2078	1	CDKL5	23	18627018	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	7354270	18627018	136643542	72	18686											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972739	29972739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttttgcccttgaaatcctAcctgatatgcttgaaaagca	11	13	7	10	1	0	3	0	3	0	0	1	3	1	3	3	0	4	3	3	0	5	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:29972739A>G	ENST00000378993.1	+	10	1975	c.1302A>G	c.(1300-1302)ctA>ctG	p.L434L	IL1RAPL1_ENST00000302196.4_Silent_p.L434L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	434	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGAAATCCTACCTGATATGC	0.363																																						uc004dby.2																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1300-1302)ctA>ctG		Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.							101	87	91					X																	29972739		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972739A>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1302A>G	X.37:g.29972739A>G							p.L434L	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			9	1810	+			434			TIR.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1302A>G	CCDS14218.1																																																																																				0.363	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		G	29972739	A	G	29972739	2	3	261	1	0	0	0	0	0	0	0	1	7661	378	14	4		4	IL1RAPL1	23	29972739	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08	11345721	29972739	125297821	73	18687											
GRIPAP1	56850	broad.mit.edu	37	chrX	48831638	48831638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgttcatctcccgaaGgttctcgtcgcctggcttca	4	15	8	14	3	5	0	2	0	3	0	8	1	5	0	2	2	0	3	2	2	1	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:48831638G>A	ENST00000376441.1	-	25	2396	c.2362C>T	c.(2362-2364)Ctt>Ttt	p.L788F	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.L757F|GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.L743F	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	788						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATCTCCCGAAGGTTCTCGTCG	0.592																																						uc004dly.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(2362-2364)Ctt>Ttt		Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.							66	50	56					X																	48831638		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48831638G>A	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2362C>T	X.37:g.48831638G>A	ENSP00000365624:p.Leu788Phe						p.L788F	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			24	2397	-			788					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.2362C>T	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	g	18.53	3.642911	0.67244	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	3.66	3.66	0.41972	.	0.000000	0.64402	U	0.000017	T	0.75953	0.3920	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.77552	-0.2545	9	0.48119	T	0.1	-3.4351	11.6458	0.51261	0.0:0.0:1.0:0.0	.	788	Q4V328	GRAP1_HUMAN	F	757;743;788;757	.	ENSP00000365608:L757F	L	-	1	0	GRIPAP1	48716582	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.693000	0.74582	1.674000	0.50907	0.488000	0.48403	CTT		0.592	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		A	48831638	G	A	48831638	3	1	261	1	0	0	0	0	1	0	0	0	6789	1000	35	3	171	3	GRIPAP1	23	48831638	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	18858899	48831638	106438922	74	18688											
NOX1	27035	broad.mit.edu	37	chrX	100117739	100117739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggagagaatggaggcaagGgagccatctgtggcctgtcg	9	7	17	8	1	1	1	0	0	1	1	2	5	1	4	2	5	1	1	2	5	2	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:100117739G>A	ENST00000372966.3	-	5	613	c.408C>T	c.(406-408)tcC>tcT	p.S136S	NOX1_ENST00000372964.1_Silent_p.S136S|NOX1_ENST00000217885.5_Silent_p.S136S|NOX1_ENST00000372960.4_Silent_p.S99S	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	136	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGAGGCAAGGGAGCCATCTG	0.453																																						uc004egj.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(406-408)tcC>tcT		Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.							156	155	155					X																	100117739		2203	4299	6502	SO:0001819	synonymous_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117739G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.408C>T	X.37:g.100117739G>A						NOX1_uc004egl.4_Silent_p.S136S|NOX1_uc010nne.3_Silent_p.S99S	p.S136S	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			4	614	-			136			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.408C>T	CCDS14474.1																																																																																				0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		A	100117739	G	A	100117739	2	1	261	1	0	0	0	0	0	0	0	1	10556	1219	43	3		3	NOX1	23	100117739	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	51286101	100117739	55152821	75	18689											
BHLHB9	80823	broad.mit.edu	37	chrX	102004877	102004877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgcaaaatggaatgCtatatggattctgaggaatt	12	14	10	5	0	1	1	0	1	1	0	2	4	2	4	1	3	2	2	1	3	6	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:102004877C>T	ENST00000372735.1	+	4	1539	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BHLHB9_ENST00000361229.4_Silent_p.C318C|BHLHB9_ENST00000447531.1_Silent_p.C318C|BHLHB9_ENST00000457056.1_Silent_p.C318C|BHLHB9_ENST00000448867.1_Silent_p.C318C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	318			C -> R (in dbSNP:rs4514179).		learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATGGAATGCTATATGGATT	0.398																																						uc022cbi.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(952-954)tgC>tgT		Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.							85	80	82					X																	102004877		2203	4300	6503	SO:0001819	synonymous_variant	80823					cytoplasm|nucleus	binding	g.chrX:102004877C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.954C>T	X.37:g.102004877C>T						BHLHB9_uc010nog.3_Silent_p.C318C|BHLHB9_uc011mrq.2_Silent_p.C318C|BHLHB9_uc011mrr.2_Silent_p.C318C|BHLHB9_uc011mrs.2_Silent_p.C318C|BHLHB9_uc011mrt.2_Silent_p.C318C|BHLHB9_uc004ejo.3_Silent_p.C318C|BHLHB9_uc011mru.2_Silent_p.C318C|BHLHB9_uc011mrv.2_Silent_p.C318C	p.C318C	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN			0	954	+			318		C -> R (in dbSNP:rs4514179).			Q9C0G2	Silent	SNP	ENST00000372735.1	37	c.954C>T	CCDS14502.1																																																																																				0.398	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		T	102004877	C	T	102004877	2	4	261	1	0	0	0	0	0	0	0	1	1420	805	28	3		3	BHLHB9	23	102004877	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	1887138	102004877	53265683	76	18690											
MAGEA4	4103	broad.mit.edu	37	chrX	151093031	151093031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggtcaatgcaagagttCgcattgcctacccatccctg	9	10	9	13	1	2	1	2	0	0	1	4	1	3	1	3	1	3	3	3	1	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567																																						uc022cgv.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(895-897)Cgc>Tgc		Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.							118	111	114					X																	151093031		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151093031C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.895C>T	X.37:g.151093031C>T	ENSP00000353379:p.Arg299Cys					MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C	p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN			0	895	+	Acute lymphoblastic leukemia(192;6.56e-05)		299			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.895C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371334	0.42003	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.01599	4.74;4.74;4.74;4.74;4.74;4.74;4.74	2.55	2.55	0.30701	.	0.240065	0.42964	D	0.000630	T	0.03390	0.0098	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.47645	0.553	T	0.36890	-0.9729	9	.	.	.	.	7.8294	0.29334	0.0:1.0:0.0:0.0	.	299	P43358	MAGA4_HUMAN	C	299	ENSP00000276344:R299C;ENSP00000377498:R299C;ENSP00000359362:R299C;ENSP00000377497:R299C;ENSP00000359365:R299C;ENSP00000359360:R299C;ENSP00000353379:R299C	.	R	+	1	0	MAGEA4	150843687	0.001000	0.12720	0.002000	0.10522	0.017000	0.09413	0.673000	0.25203	1.554000	0.49487	0.292000	0.19580	CGC		0.567	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		T	151093031	C	T	151093031	3	4	261	1	0	0	0	0	1	0	0	0	9168	884	31	2	897	2	MAGEA4	23	151093031	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	49088154	151093031	4177529	77	18691											
KIF1B	23095	broad.mit.edu	37	chr1	10425617	10425617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatctcaaccactacctttGaaagcgccatcacacctagc	13	8	5	15	1	2	2	2	1	1	1	3	2	2	2	4	0	4	0	4	0	4	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:10425617G>C	ENST00000377086.1	+	43	4865	c.4663G>C	c.(4663-4665)Gaa>Caa	p.E1555Q	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1555Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1509Q			O60333	KIF1B_HUMAN	kinesin family member 1B	1555					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1509K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTACCTTTGAAAGCGCCAT	0.552																																						uc001aqx.4																			1	Substitution - Missense(1)	p.E1509K(1)	lung(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4663-4665)Gaa>Caa		Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.							112	104	106					1																	10425617		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425617G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4663G>C	1.37:g.10425617G>C	ENSP00000366290:p.Glu1555Gln					KIF1B_uc001aqw.4_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.3_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.3_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.3_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.3_Missense_Mutation_p.E1541Q	p.E1555Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	42	4865	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1555					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4663G>C		.	.	.	.	.	.	.	.	.	.	G	22.9	4.355862	0.82243	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73681	-0.69;-0.77;-0.77	5.75	5.75	0.90469	.	0.053649	0.64402	D	0.000001	T	0.65491	0.2696	L	0.34521	1.04	0.80722	D	1	P;P;P;B;P;B	0.40638	0.565;0.627;0.725;0.155;0.704;0.241	B;B;B;B;B;B	0.35353	0.135;0.139;0.201;0.094;0.113;0.124	T	0.64080	-0.6491	10	0.28530	T	0.3	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1541;1515;1555;1529;1555;1509	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	1555;1509;1555;1555	ENSP00000263934:E1509Q;ENSP00000366290:E1555Q;ENSP00000366284:E1555Q	ENSP00000263934:E1509Q	E	+	1	0	KIF1B	10348204	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAA		0.552	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			C	10425617	G	C	10425617	3	2	262	1	0	0	0	0	1	0	0	0	8284	1291	45	5	6172	5	KIF1B	1	10425617	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		10425617	238825004	1	18692											
CLCNKB	1188	broad.mit.edu	37	chr1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctacctgggccgtgtgCgcaccacgaccatcggggag	6	6	14	15	4	0	0	0	0	0	0	1	2	0	1	5	3	3	1	5	3	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:16374889C>T	ENST00000375679.4	+	6	661	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	184					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGTGTGCGCACCACGAC	0.662																																						uc001axx.4																			0		p.R184H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(550-552)Cgc>Tgc		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)						57	57	57					1																	16374889		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16374889C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.550C>T	1.37:g.16374889C>T	ENSP00000364831:p.Arg184Cys					CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	p.R184C	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	686	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	184					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.550C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.608384	0.66558	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.92911	-3.13	4.68	3.69	0.42338	Chloride channel, core (2);	0.349083	0.30649	N	0.009166	D	0.86456	0.5937	L	0.38649	1.16	0.80722	D	1	B	0.20052	0.041	B	0.21151	0.033	D	0.84245	0.0474	10	0.87932	D	0	.	8.4362	0.32789	0.2762:0.5817:0.1421:0.0	.	184	P51801	CLCKB_HUMAN	C	184	ENSP00000364831:R184C	ENSP00000332055:R184C	R	+	1	0	CLCNKB	16247476	1.000000	0.71417	0.627000	0.29227	0.928000	0.56348	2.311000	0.43717	2.139000	0.66308	0.655000	0.94253	CGC		0.662	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		T	16374889	C	T	16374889	3	4	262	1	0	0	0	0	1	0	0	0	3470	768	27	1	568	1	CLCNKB	1	16374889	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	5949272	16374889	232875732	2	18693											
CTH	1491	broad.mit.edu	37	chr1	70881655	70881655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggttttgaatatagccGttctggaaatcccactagga	11	12	10	8	1	2	1	1	1	1	0	3	3	3	3	2	3	1	2	2	3	5	6			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:70881655G>T	ENST00000370938.3	+	2	329	c.185G>T	c.(184-186)cGt>cTt	p.R62L	CTH_ENST00000411986.2_Missense_Mutation_p.R62L|CTH_ENST00000346806.2_Missense_Mutation_p.R62L|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAATATAGCCGTTCTGGAAAT	0.378																																						uc001dfd.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(184-186)cGt>cTt		Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						84	91	89					1																	70881655		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70881655G>T	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.185G>T	1.37:g.70881655G>T	ENSP00000359976:p.Arg62Leu					CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Missense_Mutation_p.R62L|CTH_uc001dfe.3_Missense_Mutation_p.R62L	p.R62L	NM_001902	NP_001893	P32929	CGL_HUMAN			1	383	+			62					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.185G>T	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153218	0.94645	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.94280	-1.95;-3.39;-1.95	5.55	5.55	0.83447	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056280	0.64402	D	0.000001	D	0.97939	0.9322	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.991;1.0	D	0.98720	1.0708	10	0.87932	D	0	-9.3947	18.6468	0.91413	0.0:0.0:1.0:0.0	.	62;62;62	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	L	62	ENSP00000413407:R62L;ENSP00000359976:R62L;ENSP00000311554:R62L	ENSP00000311554:R62L	R	+	2	0	CTH	70654243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.446000	0.97590	2.768000	0.95171	0.655000	0.94253	CGT		0.378	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		T	70881655	G	T	70881655	3	4	262	1	0	0	0	0	1	0	0	0	4009	1145	40	5	191	5	CTH	1	70881655	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	54506766	70881655	178368966	3	18694											
SPRR2B	6701	broad.mit.edu	37	chr1	153043127	153043127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcggtggatactttggctgGcagggtggggaaggtgtcac	6	11	18	6	1	1	0	1	0	0	0	2	2	1	2	0	8	1	2	0	8	2	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:153043127G>A	ENST00000368755.2	-	1	189	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SPRR2B_ENST00000341611.2_Silent_p.C63C|SPRR2B_ENST00000368752.4_Silent_p.C63C			P35325	SPR2B_HUMAN	small proline-rich protein 2B	63					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTTGGCTGGCAGGGTGGGG	0.557																																						uc001fbg.3																			0		p.C63F(1)		endometrium(2)|large_intestine(1)|lung(2)	5						c.(187-189)tgC>tgT		Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA.							230	204	213					1																	153043127		2203	4300	6503	SO:0001819	synonymous_variant	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043127G>A	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.189C>T	1.37:g.153043127G>A						SPRR2A_uc001fbf.3_Intron	p.C63C	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	249	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		63					Q5T528	Silent	SNP	ENST00000368755.2	37	c.189C>T	CCDS30865.1																																																																																				0.557	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2			A	153043127	G	A	153043127	2	1	262	1	0	0	0	0	0	0	0	1	15097	1195	42	3		3	SPRR2B	1	153043127	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	82161472	153043127	96207494	4	18695											
CHRNB2	1141	broad.mit.edu	37	chr1	154542048	154542048	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgagctggtgacagtaCagcttatggtgtcactggcc	7	11	13	10	0	2	2	1	2	1	0	2	2	2	2	1	3	3	4	1	3	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:154542048C>T	ENST00000368476.3	+	2	439	c.175C>T	c.(175-177)Cag>Tag	p.Q59*		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	59					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGTGACAGTACAGCTTATGGT	0.557																																						uc001ffg.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(175-177)Cag>Tag		Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	Nicotine(DB00184)						56	52	54					1																	154542048		2203	4300	6503	SO:0001587	stop_gained	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154542048C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.175C>T	1.37:g.154542048C>T	ENSP00000357461:p.Gln59*						p.Q59*	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	439	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		59					Q9UEH9	Nonsense_Mutation	SNP	ENST00000368476.3	37	c.175C>T	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	37	6.503788	0.97620	.	.	ENSG00000160716	ENST00000368476	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7049	0.88306	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000357461:Q59X	Q	+	1	0	CHRNB2	152808672	0.058000	0.20735	0.997000	0.53966	0.866000	0.49608	0.438000	0.21559	2.498000	0.84270	0.561000	0.74099	CAG		0.557	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		T	154542048	C	T	154542048	4	4	262	1	0	0	0	0	0	1	0	0	3391	479	17	3	181	3	CHRNB2	1	154542048	Nonsense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	1498921	154542048	94708573	5	18696											
OBSCN	84033	broad.mit.edu	37	chr1	228564849	228564849	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaggacaagacagcAgtgctgcgcgaatacgaggc	13	3	12	13	3	0	1	0	0	0	1	0	4	0	2	2	2	4	2	2	2	4	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:228564849A>G	ENST00000422127.1	+	101	23180	c.23136A>G	c.(23134-23136)gcA>gcG	p.A7712A	OBSCN_ENST00000366707.4_Silent_p.A5346A|OBSCN_ENST00000570156.2_Silent_p.A8669A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7712	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACAAGACAGCAGTGCTGCGCG	0.692																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23134-23136)gcA>gcG		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							16	20	19					1																	228564849		2044	4199	6243	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228564849A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23136A>G	1.37:g.228564849A>G						OBSCN_uc001hsr.1_Silent_p.A2341A	p.A7712A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			100	23180	+		Prostate(94;0.0405)	7712			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.23136A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	9.746	1.166142	0.21621	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.82	-9.64	0.00541	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.28366	N	0.920243	.	.	.	.	.	.	T	0.10730	-1.0617	4	.	.	.	.	1.694	0.02858	0.2407:0.1477:0.1561:0.4555	.	.	.	.	G	2329	.	.	S	+	1	0	OBSCN	226631472	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-3.769000	0.00371	-2.637000	0.00431	-0.940000	0.02684	AGT		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228564849	A	G	228564849	2	3	262	1	0	0	0	0	0	0	0	1	10812	175	7	4		4	OBSCN	1	228564849	Silent	SNP	A	TCGA-76-4931-01A-01D-1486-08	74022801	228564849	20685772	6	18697											
ZP4	57829	broad.mit.edu	37	chr1	238050695	238050695	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttgtggtgccacaggaAgtaaatggaaactggaacag	13	9	13	6	0	1	0	0	0	1	0	1	3	1	3	1	4	3	1	1	4	5	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:238050695A>G	ENST00000366570.4	-	5	878	c.720T>C	c.(718-720)acT>acC	p.T240T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	240	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACAGGAAGTAAATGGAA	0.502																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(718-720)acT>acC		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							147	142	144					1																	238050695		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050695A>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.720T>C	1.37:g.238050695A>G						LOC100130331_uc010pyc.2_Intron	p.T240T	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	1007	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	240			ZP.		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.720T>C	CCDS1615.1																																																																																				0.502	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			G	238050695	A	G	238050695	2	3	262	1	0	0	0	0	0	0	0	1	18215	59	3	4		4	ZP4	1	238050695	Silent	SNP	A	TCGA-76-4931-01A-01D-1486-08	9485846	238050695	11199926	7	18698											
XDH	7498	broad.mit.edu	37	chr2	31571198	31571198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtgggtcagcagcacagagCcatctgtgtacacatgaagt	11	8	12	10	1	2	2	1	1	1	1	2	2	2	2	1	1	4	3	1	1	2	1	rs571418792		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:31571198C>T	ENST00000379416.3	-	28	3131	c.3083G>A	c.(3082-3084)gGc>gAc	p.G1028D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1028					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAGCACAGAGCCATCTGTGTA	0.517																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3082-3084)gGc>gAc		Homo sapiens xanthine dehydrogenase (XDH), mRNA.	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						71	65	67					2																	31571198		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31571198C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3083G>A	2.37:g.31571198C>T	ENSP00000368727:p.Gly1028Asp						p.G1028D	NM_000379	NP_000370	P47989	XDH_HUMAN			27	3162	-	Acute lymphoblastic leukemia(172;0.155)		1028					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3083G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286969	0.95517	.	.	ENSG00000158125	ENST00000379416	D	0.83591	-1.74	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95523	0.8596	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	1028	P47989	XDH_HUMAN	D	1028	ENSP00000368727:G1028D	ENSP00000368727:G1028D	G	-	2	0	XDH	31424702	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.786000	0.85741	2.753000	0.94483	0.655000	0.94253	GGC		0.517	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		T	31571198	C	T	31571198	3	4	262	1	0	0	0	0	1	0	0	0	17423	739	26	3	954	3	XDH	2	31571198	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		31571198	211628175	8	18699											
SERTAD2	9792	broad.mit.edu	37	chr2	64863694	64863694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtggctgaaggccggCggggcctctcggtagctgtc	4	7	18	12	3	1	1	0	1	1	0	3	1	1	1	3	7	1	3	3	7	2	1	rs201985620		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:64863694C>T	ENST00000313349.3	-	2	609	c.312G>A	c.(310-312)ccG>ccA	p.P104P	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	104					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGAAGGCCGGCGGGGCCTCTC	0.697																																						uc021viq.1																			0		p.P104L(1)|p.A103S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(310-312)ccG>ccA		Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.							31	34	33					2																	64863694		2202	4300	6502	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863694C>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.312G>A	2.37:g.64863694C>T						SERTAD2_uc002sde.2_Silent_p.P104P	p.P104P	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			0	312	-			104					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.312G>A	CCDS33210.1																																																																																				0.697	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		T	64863694	C	T	64863694	2	4	262	1	0	0	0	0	0	0	0	1	14121	755	27	1		1	SERTAD2	2	64863694	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08	33292496	64863694	178335679	9	18700											
TTN	7273	broad.mit.edu	37	chr2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcggagagaatctcGgacgcgtagctgagattctc	9	9	14	9	4	3	2	1	1	2	2	6	6	3	4	0	3	1	2	0	3	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:179474028G>A	ENST00000591111.1	-	223	47310	c.47086C>T	c.(47086-47088)Cga>Tga	p.R15696*	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R17337*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R8464*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14769*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R8397*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R8272*|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15696	Ig-like 98.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R14769*(2)|p.R8272*(1)|p.R8464*(1)|p.R8397*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATCTCGGACGCGTAGC	0.453																																						uc021vsy.1																			5	Substitution - Nonsense(5)	p.R14769*(2)|p.R8272*(1)|p.R8464*(1)|p.R8397*(1)	lung(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44305-44307)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107	105	105					2																	179474028		1929	4130	6059	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474028G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47086C>T	2.37:g.179474028G>A	ENSP00000465570:p.Arg15696*					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R8464*|TTN_uc021vta.1_Nonsense_Mutation_p.R8397*|TTN_uc021vtb.1_Nonsense_Mutation_p.R8272*	p.R14769*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44530	-			15696			Fibronectin type-III 6.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.44305C>T		.	.	.	.	.	.	.	.	.	.	G	60	40.950042	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4442	0.67338	0.0:0.0:0.8527:0.1473	.	.	.	.	X	14769;8272;8464;8397;8272	.	ENSP00000340554:R8464X	R	-	1	2	TTN	179182273	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.644000	0.46613	2.621000	0.88768	0.558000	0.71614	CGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179474028	G	A	179474028	4	1	262	1	0	0	0	0	0	1	0	0	16732	1124	39	2	56044	2	TTN	2	179474028	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	114610334	179474028	63725345	10	18701											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	14	8	13	6	3	1	1	1	1	0	1	2	4	1	3	0	2	3	3	0	2	6	3	rs200711766	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													G|||	2	0.000399361	8e-04	0	5008	,	,		18767	0		0.001	False		,,,				2504	0					uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(679-681)Gtt>Att		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							118	123	122					4																	188924640		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924640G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.679G>A	4.37:g.188924640G>A	ENSP00000317686:p.Val227Ile					ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1087	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	227					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.679G>A	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		A	188924640	G	A	188924640	3	1	262	1	0	0	0	0	1	0	0	0	17647	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		188924640	2229636	11	18702											
PCDHB12	56124	broad.mit.edu	37	chr5	140590123	140590123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgaggcgctggtgcgCgtgctggtgctggacgccaa	6	6	18	11	5	0	0	0	0	0	0	0	2	0	1	1	4	5	4	1	4	1	0	rs147374257	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:140590123C>T	ENST00000239450.2	+	1	1833	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R	PCDHB12_ENST00000541609.1_Silent_p.R211R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGCGTGCTGGTGC	0.711																																						uc003liz.3																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1642-1644)cgC>cgT		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							29	34	32					5																	140590123		2199	4296	6495	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590123C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1644C>T	5.37:g.140590123C>T						PCDHB12_uc011dak.2_Silent_p.R211R	p.R548R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1833	+			548			Cadherin 5.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1644C>T	CCDS4254.1																																																																																				0.711	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140590123	C	T	140590123	2	4	262	1	0	0	0	0	0	0	0	1	11537	755	27	1		1	PCDHB12	5	140590123	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		140590123	40325137	12	18703											
GABRA6	2559	broad.mit.edu	37	chr5	161113339	161113339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggctatgacaatcggctgCggccgggatttggaggtaag	10	8	16	7	3	0	1	0	1	0	0	1	3	0	3	1	6	1	3	1	6	4	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:161113339C>T	ENST00000274545.5	+	2	575	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.R48W			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	48					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAATCGGCTGCGGCCGGGATT	0.483										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0		p.L47M(1)|p.R48L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(142-144)Cgg>Tgg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						98	104	102					5																	161113339		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113339C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.142C>T	5.37:g.161113339C>T	ENSP00000274545:p.Arg48Trp	TCGA Ovarian(5;0.080)					p.R48W	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	480	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	48					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.142C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842241	0.71488	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83591	-1.74;-1.74	5.63	3.82	0.43975	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.96748	3.875	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95183	0.8301	10	0.87932	D	0	.	14.832	0.70156	0.276:0.724:0.0:0.0	.	48	Q16445	GBRA6_HUMAN	W	48	ENSP00000274545:R48W;ENSP00000430527:R48W	ENSP00000274545:R48W	R	+	1	2	GABRA6	161045917	0.893000	0.30496	0.907000	0.35723	0.666000	0.39218	1.769000	0.38522	0.695000	0.31675	0.655000	0.94253	CGG		0.483	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161113339	C	T	161113339	3	4	262	1	0	0	0	0	1	0	0	0	6165	759	27	1	148	1	GABRA6	5	161113339	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	20523216	161113339	19801921	13	18704											
MICALL2	79778	broad.mit.edu	37	chr7	1485031	1485031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcctgtggccttgtaggcCcccgagtgcagcgtgcagga	5	9	14	13	2	1	0	0	0	1	0	2	2	1	1	4	3	3	3	4	3	1	2	rs200801518		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:1485031C>T	ENST00000297508.7	-	6	850	c.675G>A	c.(673-675)ggG>ggA	p.G225G	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	225	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.|LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTTGTAGGCCCCCGAGTGCA	0.692																																						uc003skj.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(673-675)ggG>ggA		Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.							10	7	8					7																	1485031		2031	4068	6099	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1485031C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.675G>A	7.37:g.1485031C>T						MICALL2_uc003ski.4_5'Flank	p.G225G	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	5	822	-		Ovarian(82;0.0253)	225			LIM zinc-binding.		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.675G>A	CCDS5324.1																																																																																				0.692	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		T	1485031	C	T	1485031	2	4	262	1	0	0	0	0	0	0	0	1	9574	610	22	3		3	MICALL2	7	1485031	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		1485031	157653632	14	18705											
CARD11	84433	broad.mit.edu	37	chr7	2984147	2984147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttcatcaggaagtgcGtgaggccctcgtggccttcc	5	10	12	14	3	2	1	2	1	0	0	5	2	3	2	4	3	1	1	4	3	1	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:2984147G>C	ENST00000396946.4	-	5	786	c.383C>G	c.(382-384)aCg>aGg	p.T128R	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	128					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.T121M(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGAAGTGCGTGAGGCCCTC	0.622			Mis		DLBCL																																	uc003smv.3				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		3	Substitution - Missense(3)	p.T121M(3)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(382-384)aCg>aGg		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.							62	58	59					7																	2984147		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984147G>C	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.383C>G	7.37:g.2984147G>C	ENSP00000380150:p.Thr128Arg						p.T128R	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	717	-		Ovarian(82;0.0115)	128					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.383C>G	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730357	0.69074	.	.	ENSG00000198286	ENST00000396946	T	0.45276	0.9	4.24	4.24	0.50183	.	0.052459	0.85682	D	0.000000	T	0.60702	0.2289	M	0.67397	2.05	0.50632	D	0.999882	D	0.65815	0.995	P	0.62014	0.897	T	0.67067	-0.5764	10	0.72032	D	0.01	-28.2955	17.0013	0.86382	0.0:0.0:1.0:0.0	.	128	Q9BXL7	CAR11_HUMAN	R	128	ENSP00000380150:T128R	ENSP00000380150:T128R	T	-	2	0	CARD11	2950673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	2.071000	0.62044	0.655000	0.94253	ACG		0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		C	2984147	G	C	2984147	3	2	262	1	0	0	0	0	1	0	0	0	2645	1145	40	5	3165	5	CARD11	7	2984147	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	1499116	2984147	156154516	15	18706											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55233043	G	T	55233043	3	4	262	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	52248896	55233043	103905620	16	18707											
PIK3CG	5294	broad.mit.edu	37	chr7	106508432	106508432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgcagcggcacccGccctccgaggagtcccaagc	7	4	12	18	3	0	0	0	0	0	0	2	2	2	1	5	3	3	2	5	3	1	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:106508432G>A	ENST00000359195.3	+	2	736	c.426G>A	c.(424-426)ccG>ccA	p.P142P	PIK3CG_ENST00000440650.2_Silent_p.P142P|PIK3CG_ENST00000496166.1_Silent_p.P142P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	142					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCGGCACCCGCCCTCCGAGG	0.637																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(424-426)ccG>ccA		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							16	19	18					7																	106508432		2200	4286	6486	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508432G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.426G>A	7.37:g.106508432G>A						PIK3CG_uc003vdu.3_Silent_p.P142P|PIK3CG_uc003vdw.3_Silent_p.P142P	p.P142P	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	511	+			142					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.426G>A	CCDS5739.1																																																																																				0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106508432	G	A	106508432	2	1	262	1	0	0	0	0	0	0	0	1	11916	1074	38	1		1	PIK3CG	7	106508432	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	51275389	106508432	52630231	17	18708											
ADAM2	2515	broad.mit.edu	37	chr8	39613418	39613418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttacatattaattttccGcactgcagattgctataatt	12	18	4	7	1	0	1	0	0	0	1	1	1	1	1	1	0	3	3	1	0	6	11	rs201864039	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr8:39613418G>A	ENST00000265708.4	-	16	1729	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000347580.4_Silent_p.C523C|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	542	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTAATTTTCCGCACTGCAGAT	0.249													.|||	4	0.000798722	0.0023	0	5008	,	,		13531	0.001		0	False		,,,				2504	0					uc003xnj.3																			0		p.C542R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1624-1626)tgC>tgT		Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.							41	46	44					8																	39613418		2200	4298	6498	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613418G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1626C>T	8.37:g.39613418G>A						ADAM2_uc003xnk.3_Silent_p.C523C|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron	p.C542C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	15	1701	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	542			Cys-rich.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1626C>T	CCDS34884.1																																																																																				0.249	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		A	39613418	G	A	39613418	2	1	262	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39613418	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		39613418	106750604	18	18709											
LMX1B	4010	broad.mit.edu	37	chr9	129453336	129453336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgtgagccccgacgAgtccgactccggtgaggcct	6	6	13	16	5	0	2	0	2	0	0	3	5	3	2	6	2	2	1	6	2	0	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr9:129453336A>G	ENST00000373474.4	+	3	555	c.548A>G	c.(547-549)gAg>gGg	p.E183G	LMX1B_ENST00000355497.5_Missense_Mutation_p.E183G|LMX1B_ENST00000561065.1_Missense_Mutation_p.E160G|LMX1B_ENST00000425646.2_Missense_Mutation_p.E160G|LMX1B_ENST00000526117.1_Missense_Mutation_p.E183G			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	183					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCCCGACGAGTCCGACTCC	0.667									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc011maa.2																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(547-549)gAg>gGg		Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.							44	35	38					9																	129453336		2201	4300	6501	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453336A>G	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.548A>G	9.37:g.129453336A>G	ENSP00000362573:p.Glu183Gly					LMX1B_uc004bqi.3_Missense_Mutation_p.E183G|LMX1B_uc004bqj.3_Missense_Mutation_p.E183G	p.E183G	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN			2	555	+			160					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.548A>G	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139543	0.37728	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.86769	-1.19;-1.19;-2.17;-1.19	4.91	4.91	0.64330	.	0.049431	0.85682	D	0.000000	T	0.72795	0.3505	N	0.08118	0	0.44048	D	0.996789	B;B;B	0.15719	0.0;0.002;0.014	B;B;B	0.17979	0.002;0.005;0.02	T	0.67488	-0.5658	10	0.08381	T	0.77	.	13.7103	0.62665	1.0:0.0:0.0:0.0	.	160;160;183	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	G	183;183;183;160	ENSP00000436930:E183G;ENSP00000362573:E183G;ENSP00000347684:E183G;ENSP00000390923:E160G	ENSP00000347684:E183G	E	+	2	0	LMX1B	128493157	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.374000	0.66167	1.819000	0.53055	0.402000	0.26972	GAG		0.667	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			G	129453336	A	G	129453336	3	3	262	1	0	0	0	0	1	0	0	0	8862	304	11	4	558	4	LMX1B	9	129453336	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08		129453336	11760095	19	18710											
PTEN	5728	broad.mit.edu	37	chr10	89712007	89712007	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattccaatgttcagtggcGgaacttgcagtaagtgcttg	9	13	11	8	1	1	0	1	0	0	0	2	1	2	1	1	2	3	4	1	2	4	6			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:89712007G>T	ENST00000371953.3	+	6	1982	c.625G>T	c.(625-627)Gga>Tga	p.G209*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	209	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTTCAGTGGCGGAACTTGCAG	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(625-627)Gga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							145	144	144					10																	89712007		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89712007G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.625G>T	10.37:g.89712007G>T	ENSP00000361021:p.Gly209*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G209*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1657	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	209			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.625G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	50	16.492015	0.99864	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	0.150567	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4963	14.9476	0.71044	0.0:0.0:0.8572:0.1428	.	.	.	.	X	209	.	.	G	+	1	0	PTEN	89701987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.777000	0.95525	0.585000	0.79938	GGA		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89712007	G	T	89712007	4	4	262	1	0	0	0	0	0	1	0	0	12738	1117	39	5	647	5	PTEN	10	89712007	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		89712007	45822740	20	18711											
SMC3	9126	broad.mit.edu	37	chr10	112350788	112350788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcagatgaagtcagcacGaagattttaatggagtttaa	15	12	10	4	1	2	3	2	1	0	2	2	6	2	4	0	1	1	2	0	1	4	5			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:112350788G>A	ENST00000361804.4	+	17	1836	c.1710G>A	c.(1708-1710)acG>acA	p.T570T		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	570	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.T570T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363																																						uc001kze.3																			1	Substitution - coding silent(1)	p.T570T(2)|p.T570M(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1708-1710)acG>acA		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							104	103	104					10																	112350788		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112350788G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1710G>A	10.37:g.112350788G>A							p.T570T	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	16	1836	+		Breast(234;0.0848)|Lung NSC(174;0.238)	570			Flexible hinge.		A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.1710G>A	CCDS31285.1																																																																																				0.363	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		A	112350788	G	A	112350788	2	1	262	1	0	0	0	0	0	0	0	1	14784	1045	37	2		2	SMC3	10	112350788	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	22638781	112350788	23183959	21	18712											
TRIM44	54765	broad.mit.edu	37	chr11	35747531	35747531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaagaaagttcagaaagtGattgctgatgaggagcagaa	16	10	12	3	0	1	6	1	3	0	3	1	7	1	7	0	1	2	3	0	1	4	4			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:35747531G>A	ENST00000299413.5	+	3	1114	c.807G>A	c.(805-807)gtG>gtA	p.V269V	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	269						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTCAGAAAGTGATTGCTGATG	0.423																																						uc001mwi.2																			0				endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(805-807)gtG>gtA		Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.							66	60	62					11																	35747531		2202	4298	6500	SO:0001819	synonymous_variant	54765					intracellular	protein binding|zinc ion binding	g.chr11:35747531G>A	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19016	protein-coding gene	gene with protein product		612298	"tripartite motif-containing 44"				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.807G>A	11.37:g.35747531G>A							p.V269V	NM_017583	NP_060053	Q96DX7	TRI44_HUMAN			2	1114	+	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)	269					D3DR14|Q96QY2|Q9UGK0	Silent	SNP	ENST00000299413.5	37	c.807G>A	CCDS31461.1																																																																																				0.423	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583		A	35747531	G	A	35747531	2	1	262	1	0	0	0	0	0	0	0	1	16516	1277	45	3		3	TRIM44	11	35747531	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		35747531	99258985	22	18713											
MS4A14	84689	broad.mit.edu	37	chr11	60183896	60183896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagaaaatcctcaagacgGcattccttaaaccagcaaac	18	6	6	11	1	1	3	1	0	0	3	3	3	3	3	3	1	3	2	3	1	7	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60183896G>A	ENST00000300187.6	+	5	1732	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R	MS4A14_ENST00000531783.1_Silent_p.R518R|MS4A14_ENST00000395005.2_Silent_p.R468R|MS4A14_ENST00000531787.1_Silent_p.R373R	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	485	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTCAAGACGGCATTCCTTAA	0.393																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1453-1455)cgG>cgA		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							83	85	84					11																	60183896		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183896G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1455G>A	11.37:g.60183896G>A						MS4A14_uc001npi.3_Silent_p.R373R|MS4A14_uc001npn.3_Silent_p.R223R|MS4A14_uc001npk.3_Silent_p.R468R|MS4A14_uc001npl.3_Silent_p.R223R|MS4A14_uc001npm.3_Silent_p.R223R	p.R485R	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	2020	+			485			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1455G>A	CCDS31569.1																																																																																				0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			A	60183896	G	A	60183896	2	1	262	1	0	0	0	0	0	0	0	1	9858	1190	42	3		3	MS4A14	11	60183896	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	24436365	60183896	74822620	23	18714											
PRPF19	27339	broad.mit.edu	37	chr11	60665709	60665709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgctagtgatggggcccGagtggccagggaagttggcc	7	7	18	9	2	0	1	0	1	0	0	0	4	0	2	3	5	1	2	3	5	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60665709G>A	ENST00000227524.4	-	14	1380	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GATGGGGCCCGAGTGGCCAGG	0.532																																						uc001nqf.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(1174-1176)tCg>tTg		Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.							53	55	54					11																	60665709		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665709G>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1175C>T	11.37:g.60665709G>A	ENSP00000227524:p.Ser392Leu						p.S392L	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			13	1382	-			392						Missense_Mutation	SNP	ENST00000227524.4	37	c.1175C>T	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192622	0.94960	.	.	ENSG00000110107	ENST00000227524	T	0.61510	0.1	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.114669	0.64402	D	0.000010	T	0.51856	0.1699	N	0.25332	0.735	0.80722	D	1	P	0.43607	0.812	B	0.43445	0.42	T	0.57516	-0.7798	10	0.62326	D	0.03	-9.2532	18.4642	0.90749	0.0:0.0:1.0:0.0	.	392	Q9UMS4	PRP19_HUMAN	L	392	ENSP00000227524:S392L	ENSP00000227524:S392L	S	-	2	0	PRPF19	60422285	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	6.087000	0.71362	2.679000	0.91253	0.650000	0.86243	TCG		0.532	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		A	60665709	G	A	60665709	3	1	262	1	0	0	0	0	1	0	0	0	12564	1059	37	2	351	2	PRPF19	11	60665709	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	481813	60665709	74340807	24	18715											
HEPHL1	341208	broad.mit.edu	37	chr11	93778980	93778980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattcctgggccccatcttGagggccgaagtgggtgatgt	6	10	16	9	1	1	2	0	2	1	0	2	4	2	3	4	4	0	0	4	4	1	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:93778980G>A	ENST00000315765.9	+	2	320	c.312G>A	c.(310-312)ttG>ttA	p.L104L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	104	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.L104L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCCATCTTGAGGGCCGAAG	0.468																																						uc001pep.2																			1	Substitution - coding silent(1)	p.L104L(2)	urinary_tract(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(310-312)ttG>ttA		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.							75	75	75					11																	93778980		1876	4103	5979	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93778980G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.312G>A	11.37:g.93778980G>A							p.L104L	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			1	469	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	104			Plastocyanin-like 1.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.312G>A	CCDS44710.1																																																																																				0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93778980	G	A	93778980	2	1	262	1	0	0	0	0	0	0	0	1	7055	1281	45	3		3	HEPHL1	11	93778980	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	33113271	93778980	41227536	25	18716											
OR10G8	219869	broad.mit.edu	37	chr11	123900691	123900691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggtcatgtcctgtgatcGctacctggccatcagttacc	7	11	10	13	1	2	1	2	1	0	0	4	1	3	1	4	2	2	2	4	2	2	2	rs116699538	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:123900691G>A	ENST00000431524.1	+	1	395	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGTGATCGCTACCTGGCC	0.567													G|||	5	0.000998403	0.0038	0	5008	,	,		20912	0		0	False		,,,				2504	0					uc001pzp.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(361-363)cGc>cAc		Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.		G	HIS/ARG	14,4388	23.3+/-48.9	0,14,2187	152	142	146		362	2.1	1	11	dbSNP_132	146	0,8598		0,0,4299	yes	missense	OR10G8	NM_001004464.1	29	0,14,6486	AA,AG,GG		0.0,0.318,0.1077	possibly-damaging	121/312	123900691	14,12986	2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900691G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.362G>A	11.37:g.123900691G>A	ENSP00000389072:p.Arg121His						p.R121H	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	362	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.362G>A	CCDS31704.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.53	2.562290	0.45694	0.00318	0.0	ENSG00000234560	ENST00000431524	T	0.77489	-1.1	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.149054	0.28671	N	0.014539	T	0.78266	0.4256	M	0.89658	3.05	0.38822	D	0.95565	P	0.34587	0.458	B	0.31290	0.127	T	0.79077	-0.1951	10	0.72032	D	0.01	.	9.3393	0.38069	0.1142:0.0:0.8858:0.0	.	121	Q8NGN5	O10G8_HUMAN	H	121	ENSP00000389072:R121H	ENSP00000389072:R121H	R	+	2	0	OR10G8	123405901	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	8.559000	0.90708	0.593000	0.29745	-0.157000	0.13467	CGC		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900691	G	A	123900691	3	1	262	1	0	0	0	0	1	0	0	0	10903	1087	38	1	364	1	OR10G8	11	123900691	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	30121711	123900691	11105825	26	18717											
DENND5B	160518	broad.mit.edu	37	chr12	31545306	31545306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccattttctccacacaGcaacacggtgaggcttcctc	9	9	8	15	1	1	1	0	1	1	0	4	1	2	1	3	3	2	2	3	3	1	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:31545306G>A	ENST00000389082.5	-	19	3625	c.3361C>T	c.(3361-3363)Ctg>Ttg	p.L1121L	DENND5B_ENST00000536562.1_Silent_p.L1156L|DENND5B_ENST00000306833.6_Silent_p.L1156L	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1121	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTCCACACAGCAACACGGTG	0.468																																						uc001rkh.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3466-3468)Ctg>Ttg		Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.							57	55	56					12																	31545306		1919	4127	6046	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31545306G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3361C>T	12.37:g.31545306G>A						DENND5B_uc001rki.1_Silent_p.L1121L	p.L1156L	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			20	3617	-			1121			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.3466C>T	CCDS44857.1																																																																																				0.468	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		A	31545306	G	A	31545306	2	1	262	1	0	0	0	0	0	0	0	1	4437	962	34	3		3	DENND5B	12	31545306	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		31545306	102306589	27	18718											
OR6C6	283365	broad.mit.edu	37	chr12	55688853	55688853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagaaatacattggcGtcttgagccggggatccagc	12	7	14	8	2	1	3	0	1	1	2	2	5	2	4	2	4	3	0	2	4	3	3	rs77411445	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:55688853G>A	ENST00000358433.2	-	1	163	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATACATTGGCGTCTTGAGCCG	0.398													G|||	2	0.000399361	8e-04	0	5008	,	,		16161	0		0	False		,,,				2504	0.001					uc010sph.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(163-165)aCg>aTg		Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.		G	MET/THR	0,4406		0,0,2203	82	84	83		164	3.3	0	12	dbSNP_131	83	1,8599		0,1,4299	no	missense	OR6C6	NM_001005493.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	55/315	55688853	1,13005	2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688853G>A		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.164C>T	12.37:g.55688853G>A	ENSP00000351211:p.Thr55Met						p.T55M	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			0	164	-			55						Missense_Mutation	SNP	ENST00000358433.2	37	c.164C>T	CCDS31817.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	6.126	0.391566	0.11581	0.0	1.16E-4	ENSG00000188324	ENST00000358433	T	0.00481	7.11	4.24	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.150880	0.30611	N	0.009244	T	0.00695	0.0023	M	0.84846	2.72	0.09310	N	1	B	0.31989	0.35	B	0.32624	0.149	T	0.24584	-1.0156	10	0.72032	D	0.01	.	12.0283	0.53384	0.0871:0.0:0.9129:0.0	.	55	A6NF89	OR6C6_HUMAN	M	55	ENSP00000351211:T55M	ENSP00000351211:T55M	T	-	2	0	OR6C6	53975120	0.016000	0.18221	0.027000	0.17364	0.194000	0.23727	1.541000	0.36126	1.137000	0.42214	0.580000	0.79431	ACG		0.398	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			A	55688853	G	A	55688853	3	1	262	1	0	0	0	0	1	0	0	0	11194	1145	40	1	782	1	OR6C6	12	55688853	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	24143547	55688853	78163042	28	18719											
AVPR1A	552	broad.mit.edu	37	chr12	63543656	63543656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgtaccggtccagaCggacatgggatcccagacag	10	4	13	14	4	0	2	0	0	0	2	2	4	2	4	4	4	1	2	4	4	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:63543656C>T	ENST00000299178.2	-	1	1066	c.961G>A	c.(961-963)Gtc>Atc	p.V321I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	321					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCGGTCCAGACGGACATGGGA	0.532																																						uc001sro.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(961-963)Gtc>Atc		Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						82	74	77					12																	63543656		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543656C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.961G>A	12.37:g.63543656C>T	ENSP00000299178:p.Val321Ile						p.V321I	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	0	2935	-			321						Missense_Mutation	SNP	ENST00000299178.2	37	c.961G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.409286	0.01155	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.70399	-0.48;0.32	5.46	-10.9	0.00192	GPCR, rhodopsin-like superfamily (1);	3.559570	0.00447	N	0.000089	T	0.46425	0.1392	N	0.17248	0.465	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27806	-1.0063	9	.	.	.	-0.1158	6.4897	0.22109	0.1269:0.6444:0.1478:0.0809	.	321	P37288	V1AR_HUMAN	I	102;321	ENSP00000449822:V102I;ENSP00000299178:V321I	.	V	-	1	0	AVPR1A	61829923	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.337000	0.00507	-2.690000	0.00404	-1.056000	0.02311	GTC		0.532	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			T	63543656	C	T	63543656	3	4	262	1	0	0	0	0	1	0	0	0	1231	536	19	1	303	1	AVPR1A	12	63543656	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	7854803	63543656	70308239	29	18720											
GPR12	2835	broad.mit.edu	37	chr13	27332980	27332980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacatcactgggcgagcGcgctctctgggcgagactgg	7	7	14	13	4	2	1	1	0	1	1	3	3	2	1	0	3	2	1	0	3	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr13:27332980G>A	ENST00000381436.2	-	1	1447	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	GPR12_ENST00000405846.3_Missense_Mutation_p.R329C			P47775	GPR12_HUMAN	G protein-coupled receptor 12	329					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.R329C(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CTGGGCGAGCGCGCTCTCTGG	0.537																																						uc021rhk.1																			1	Substitution - Missense(1)	p.R329C(2)	large_intestine(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(985-987)Cgc>Tgc		Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.							65	67	66					13																	27332980		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27332980G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.985C>T	13.37:g.27332980G>A	ENSP00000370844:p.Arg329Cys					GPR12_uc010aal.3_Missense_Mutation_p.R329C|GPR12_uc010tdl.2_Missense_Mutation_p.R170C	p.R329C	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	0	985	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	329					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.985C>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372641	0.61624	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.38077	1.16;1.16	5.55	4.63	0.57726	.	0.000000	0.32093	N	0.006590	T	0.58409	0.2120	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61802	-0.6988	10	0.87932	D	0	.	15.5018	0.75705	0.0:0.0:0.814:0.186	.	329	P47775	GPR12_HUMAN	C	329	ENSP00000384932:R329C;ENSP00000370844:R329C	ENSP00000370844:R329C	R	-	1	0	GPR12	26230980	1.000000	0.71417	0.943000	0.38184	0.925000	0.55904	3.827000	0.55745	2.629000	0.89072	0.561000	0.74099	CGC		0.537	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			A	27332980	G	A	27332980	3	1	262	1	0	0	0	0	1	0	0	0	6635	1087	38	1	23	1	GPR12	13	27332980	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		27332980	87836898	30	18721											
ADCY4	196883	broad.mit.edu	37	chr14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctagtccccggggggtaCggctcctgcacagtgagagc	7	7	14	13	2	1	1	0	1	1	1	3	2	3	1	3	4	3	3	3	4	2	2	rs199640938		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:24795366C>T	ENST00000310677.4	-	13	1687	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592																																						uc001wow.3																			0		p.R525C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1573-1575)cGt>cAt		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							65	62	63					14																	24795366		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795366C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1574G>A	14.37:g.24795366C>T	ENSP00000312126:p.Arg525His					ADCY4_uc010toh.2_Missense_Mutation_p.R211H|ADCY4_uc001wox.3_Missense_Mutation_p.R525H|ADCY4_uc001woy.3_Missense_Mutation_p.R525H	p.R525H	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	11	1993	-			525					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1574G>A	CCDS9627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801497|3.801497	0.70682|0.70682	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747|ENST00000556932	T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.188295|.	0.26907|.	N|.	0.021898|.	T|T	0.52709|0.52709	0.1751|0.1751	L|L	0.29908|0.29908	0.895|0.895	0.38500|0.38500	D|D	0.948201|0.948201	B|.	0.09022|.	0.002|.	B|.	0.13407|.	0.009|.	T|T	0.52320|0.52320	-0.8591|-0.8591	10|5	0.56958|.	D|.	0.05|.	.|.	12.7327|12.7327	0.57206|0.57206	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	525|.	Q8NFM4|.	ADCY4_HUMAN|.	H|I	525;525;525;218|98	ENSP00000312126:R525H;ENSP00000452250:R525H;ENSP00000393177:R525H;ENSP00000379971:R218H|.	ENSP00000312126:R525H|.	R|V	-|-	2|1	0|0	ADCY4|ADCY4	23865206|23865206	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.734000|0.734000	0.41952|0.41952	2.412000|2.412000	0.44609|0.44609	2.393000|2.393000	0.81446|0.81446	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24795366	C	T	24795366	3	4	262	1	0	0	0	0	1	0	0	0	296	536	19	1	1715	1	ADCY4	14	24795366	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		24795366	82554174	31	18722											
GALC	2581	broad.mit.edu	37	chr14	88431916	88431916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggccgtcatcaacccGcatctcccataaggcaactg	9	8	8	16	2	3	0	2	0	1	0	5	0	4	0	4	2	2	2	4	2	3	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:88431916G>A	ENST00000261304.2	-	9	1072	c.966C>T	c.(964-966)tgC>tgT	p.C322C	GALC_ENST00000544807.2_Silent_p.C266C|GALC_ENST00000393568.4_Silent_p.C299C|GALC_ENST00000393569.2_Silent_p.C296C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	322					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCAACCCGCATCTCCCAT	0.448																																						uc001xvt.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(964-966)tgC>tgT		Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.							74	81	79					14																	88431916		1920	4131	6051	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88431916G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.966C>T	14.37:g.88431916G>A						GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.C299C|GALC_uc010tvx.2_Silent_p.C296C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.2_Silent_p.C322C	p.C322C	NM_000153	NP_000144	P54803	GALC_HUMAN			8	1073	-			322					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.966C>T	CCDS9878.2																																																																																				0.448	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			A	88431916	G	A	88431916	2	1	262	1	0	0	0	0	0	0	0	1	6201	1079	38	1		1	GALC	14	88431916	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	63636550	88431916	18917624	32	18723											
AHNAK2	113146	broad.mit.edu	37	chr14	105415138	105415138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggagtttcacgtccAcctggccagcctggaccttc	6	9	9	17	1	1	0	1	0	0	0	4	2	3	2	7	3	1	1	7	3	0	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:105415138A>C	ENST00000333244.5	-	7	6769	c.6650T>G	c.(6649-6651)gTg>gGg	p.V2217G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2217						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTCACGTCCACCTGGCCAGC	0.627																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6649-6651)gTg>gGg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							106	106	106					14																	105415138		1926	4140	6066	SO:0001583	missense	113146					nucleus		g.chr14:105415138A>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6650T>G	14.37:g.105415138A>C	ENSP00000353114:p.Val2217Gly					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V2117G	p.V2217G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	6770	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2217					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6650T>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	10.55	1.380321	0.24944	.	.	ENSG00000185567	ENST00000333244	T	0.01406	4.93	3.94	-1.61	0.08399	.	.	.	.	.	T	0.04907	0.0132	M	0.82323	2.585	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.39881	-0.9592	9	0.23302	T	0.38	.	0.6933	0.00895	0.4545:0.1326:0.2026:0.2104	.	2217	Q8IVF2	AHNK2_HUMAN	G	2217	ENSP00000353114:V2217G	ENSP00000353114:V2217G	V	-	2	0	AHNAK2	104486183	0.012000	0.17670	0.000000	0.03702	0.006000	0.05464	-0.196000	0.09532	0.099000	0.17552	0.397000	0.26171	GTG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415138	A	C	105415138	3	2	262	1	0	0	0	0	1	0	0	0	415	159	6	5	10741	5	AHNAK2	14	105415138	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	16983222	105415138	1934402	33	18724											
MKRN3	7681	broad.mit.edu	37	chr15	23810982	23810982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcagccggggcccaggCaggtgctgaggcagcaaggg	8	2	20	11	2	0	1	0	1	0	0	0	2	0	1	2	7	3	5	2	7	1	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:23810982C>T	ENST00000314520.3	+	1	529	c.53C>T	c.(52-54)gCa>gTa	p.A18V	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.A18V|MKRN3_ENST00000568252.1_Missense_Mutation_p.A18V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	18					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGCCCAGGCAGGTGCTGAG	0.637																																						uc001ywh.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(52-54)gCa>gTa		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							19	25	23					15																	23810982		2203	4299	6502	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23810982C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.53C>T	15.37:g.23810982C>T	ENSP00000313881:p.Ala18Val					MKRN3_uc001ywi.3_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V	p.A18V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	529	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	18						Missense_Mutation	SNP	ENST00000314520.3	37	c.53C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	14.40	2.523244	0.44866	.	.	ENSG00000179455	ENST00000314520	T	0.36340	1.26	3.36	0.245	0.15512	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	P;B	0.37101	0.582;0.046	B;B	0.31614	0.133;0.011	T	0.12218	-1.0556	9	0.29301	T	0.29	.	1.8063	0.03082	0.2015:0.4561:0.2196:0.1229	.	18;18	Q6NSB6;Q13064	.;MKRN3_HUMAN	V	18	ENSP00000313881:A18V	ENSP00000313881:A18V	A	+	2	0	MKRN3	21362075	0.001000	0.12720	0.078000	0.20375	0.795000	0.44927	0.160000	0.16462	0.058000	0.16222	0.563000	0.77884	GCA		0.637	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23810982	C	T	23810982	3	4	262	1	0	0	0	0	1	0	0	0	9608	710	25	3	55	3	MKRN3	15	23810982	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		23810982	78720410	34	18725											
NEO1	4756	broad.mit.edu	37	chr15	73562540	73562540	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgatactacaccgtccgatGgaaaaccaacatcccagcaa	15	5	6	15	3	0	0	0	0	0	0	2	3	2	1	5	1	5	1	5	1	6	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:73562540G>A	ENST00000339362.5	+	18	3131	c.2684G>A	c.(2683-2685)tGg>tAg	p.W895*	NEO1_ENST00000560262.1_Nonsense_Mutation_p.W895*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.W895*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.W895*			Q92859	NEO1_HUMAN	neogenin 1	895	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCGTCCGATGGAAAACCAAC	0.448																																						uc002avm.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(2683-2685)tGg>tAg		Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.							91	85	87					15																	73562540		2198	4297	6495	SO:0001587	stop_gained	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73562540G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2684G>A	15.37:g.73562540G>A	ENSP00000341198:p.Trp895*					NEO1_uc010ukx.2_Nonsense_Mutation_p.W895*|NEO1_uc010uky.2_Nonsense_Mutation_p.W895*|NEO1_uc002avn.4_Nonsense_Mutation_p.W899*|NEO1_uc010ukz.2_Nonsense_Mutation_p.W319*	p.W895*	NM_002499	NP_002490	Q92859	NEO1_HUMAN			16	2876	+			895			Fibronectin type-III 5.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	ENST00000339362.5	37	c.2684G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	42	9.422675	0.99166	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9075	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	895;617;895	.	ENSP00000261908:W895X	W	+	2	0	NEO1	71349593	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	TGG		0.448	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		A	73562540	G	A	73562540	4	1	262	1	0	0	0	0	0	1	0	0	10336	1357	47	3	2750	3	NEO1	15	73562540	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	49751558	73562540	28968852	35	18726											
NOMO1	23420	broad.mit.edu	37	chr16	14968903	14968903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttctaggtcttccatcGacagtgaacccgccttggtc	6	14	8	13	2	3	1	0	1	3	0	6	2	4	1	3	2	1	0	3	2	2	5			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:14968903G>A	ENST00000287667.7	+	19	2236	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	689						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCTTCCATCGACAGTGAACC	0.562																																						uc002dcv.3																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2065-2067)Gac>Aac		Homo sapiens NODAL modulator 1 (NOMO1), mRNA.							80	85	83					16																	14968903		2195	4300	6495	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14968903G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2065G>A	16.37:g.14968903G>A	ENSP00000287667:p.Asp689Asn					Mir_548_uc021tdj.1_5'Flank	p.D689N	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			18	2131	+			689					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2065G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.999472	0.54147	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04317	3.65	2.86	2.86	0.33363	.	0.052511	0.85682	D	0.000000	T	0.04318	0.0119	L	0.50333	1.59	0.58432	D	0.999991	P	0.48640	0.913	B	0.33121	0.158	T	0.53954	-0.8365	10	0.30078	T	0.28	-32.4641	11.5317	0.50614	0.0:0.0:1.0:0.0	.	689	Q15155	NOMO1_HUMAN	N	689;689;522	ENSP00000287667:D689N	ENSP00000287667:D689N	D	+	1	0	NOMO1	14876404	1.000000	0.71417	0.998000	0.56505	0.351000	0.29236	8.516000	0.90552	1.590000	0.49995	0.184000	0.17185	GAC		0.562	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			A	14968903	G	A	14968903	3	1	262	1	0	0	0	0	1	0	0	0	10531	1058	37	2	2139	2	NOMO1	16	14968903	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		14968903	75385850	36	18727											
SCNN1B	6338	broad.mit.edu	37	chr16	23366788	23366788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctggcctgcctattcGgagctgagccctgcaactac	7	10	10	14	1	0	2	0	2	0	0	2	3	1	3	4	2	6	2	4	2	3	3	rs373232226		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:23366788G>A	ENST00000343070.2	+	4	930	c.754G>A	c.(754-756)Gga>Aga	p.G252R	SCNN1B_ENST00000568923.1_Missense_Mutation_p.G225R|SCNN1B_ENST00000307331.5_Missense_Mutation_p.G297R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.G252R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	252					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCCTATTCGGAGCTGAGCC	0.617																																						uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(754-756)Gga>Aga		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)	G	ARG/GLY	0,4394		0,0,2197	63	57	59		754	5.2	0.9	16		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCNN1B	NM_000336.2	125	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	252/641	23366788	1,12993	2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23366788G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.754G>A	16.37:g.23366788G>A	ENSP00000345751:p.Gly252Arg						p.G252R	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	930	+			252					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.754G>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618178	0.46736	0.0	1.16E-4	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.61158	0.13;0.13	5.15	5.15	0.70609	.	0.075051	0.56097	D	0.000034	T	0.69602	0.3129	L	0.39397	1.21	0.48696	D	0.999697	D	0.89917	1.0	D	0.97110	1.0	T	0.71981	-0.4428	10	0.62326	D	0.03	-2.9526	17.6236	0.88088	0.0:0.0:1.0:0.0	.	252	P51168	SCNNB_HUMAN	R	252;297	ENSP00000345751:G252R;ENSP00000302874:G297R	ENSP00000302874:G297R	G	+	1	0	SCNN1B	23274289	1.000000	0.71417	0.860000	0.33809	0.044000	0.14063	5.345000	0.65987	2.397000	0.81536	0.561000	0.74099	GGA		0.617	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23366788	G	A	23366788	3	1	262	1	0	0	0	0	1	0	0	0	13928	1117	39	2	764	2	SCNN1B	16	23366788	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	8397885	23366788	66987965	37	18728											
ATP2A1	487	broad.mit.edu	37	chr16	28914740	28914740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgacgaaatcctcaagttcGttgctcggaactacctagag	11	10	9	11	4	1	1	1	0	0	1	5	4	2	2	2	1	3	3	2	1	5	4	rs200445830		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:28914740G>A	ENST00000357084.3	+	21	3226	c.2959G>A	c.(2959-2961)Gtt>Att	p.V987I	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V987I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V862I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	987					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCAAGTTCGTTGCTCGGAA	0.627																																						uc002dro.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2959-2961)Gtt>Att		Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.							125	101	109					16																	28914740		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914740G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2959G>A	16.37:g.28914740G>A	ENSP00000349595:p.Val987Ile					NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	p.V987I	NM_173201	NP_775293	O14983	AT2A1_HUMAN			20	3143	+			987					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2959G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	8.143	0.785727	0.16189	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95307	-3.67;-3.67;-3.67	5.62	-10.2	0.00374	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.422321	0.24993	N	0.033969	T	0.78451	0.4285	N	0.02202	-0.64	0.24417	N	0.99463	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.09377	0.002;0.004;0.002	T	0.67146	-0.5744	10	0.08179	T	0.78	.	16.0327	0.80593	0.1755:0.0972:0.7273:0.0	.	862;987;987	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	987;987;862	ENSP00000349595:V987I;ENSP00000378879:V987I;ENSP00000443101:V862I	ENSP00000349595:V987I	V	+	1	0	ATP2A1	28822241	0.000000	0.05858	0.701000	0.30321	0.762000	0.43233	-2.067000	0.01383	-1.367000	0.02152	-1.149000	0.01842	GTT		0.627	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		A	28914740	G	A	28914740	3	1	262	1	0	0	0	0	1	0	0	0	1136	1145	40	1	3041	1	ATP2A1	16	28914740	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	5547952	28914740	61440013	38	18729											
C17orf87	388325	broad.mit.edu	37	chr17	5118261	5118261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcctcggtggcagaggcGgtaattgaactggcgactca	10	9	13	9	3	1	2	1	1	0	1	3	3	2	2	1	5	1	2	1	5	3	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:5118261G>A	ENST00000574081.1	-	4	346	c.242C>T	c.(241-243)cCg>cTg	p.P81L	SCIMP_ENST00000574297.1_Missense_Mutation_p.P81L|RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Missense_Mutation_p.P74L|SCIMP_ENST00000399600.4_Missense_Mutation_p.P74L	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	81	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											TGGCAGAGGCGGTAATTGAAC	0.433																																						uc002gbh.2																			0											c.(241-243)cCg>cTg		Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.							73	75	74					17																	5118261		1951	4138	6089	SO:0001583	missense	388325					integral to membrane		g.chr17:5118261G>A	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"SLP65/SLP76, Csk-interacting membrane protein"	614406	"chromosome 17 open reading frame 87"	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.242C>T	17.37:g.5118261G>A	ENSP00000461269:p.Pro81Leu					LOC100130950_uc002gbf.2_Intron|LOC100130950_uc002gbg.2_Intron|SCIMP_uc010clb.1_Missense_Mutation_p.P74L|SCIMP_uc002gbi.2_Missense_Mutation_p.P74L	p.P81L	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN			3	275	-			81					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.242C>T	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948570	0.73787	.	.	ENSG00000161929	ENST00000399600	.	.	.	4.89	4.89	0.63831	.	0.000000	0.56097	D	0.000028	T	0.76435	0.3987	M	0.66939	2.045	0.45272	D	0.998275	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78316	-0.2251	9	0.87932	D	0	-17.7356	13.7546	0.62928	0.0:0.0:1.0:0.0	.	74;74;81	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	L	81	.	ENSP00000382509:P81L	P	-	2	0	C17orf87	5058985	1.000000	0.71417	0.670000	0.29842	0.057000	0.15508	4.007000	0.57093	2.716000	0.92895	0.561000	0.74099	CCG		0.433	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		A	5118261	G	A	5118261	3	1	262	1	0	0	0	0	1	0	0	0	1889	1116	39	2	203	2	C17orf87	17	5118261	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		5118261	76076949	39	18730											
DNAH2	146754	broad.mit.edu	37	chr17	7722376	7722376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaacactgacttggcgCgggaggtaagctcccggccc	9	6	13	13	3	1	2	1	1	0	1	2	3	2	3	2	4	2	2	2	4	2	2	rs202094383		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:7722376C>T	ENST00000572933.1	+	71	12270	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3604W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3604					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTTGGCGCGGGAGGTAAG	0.607																																						uc002giu.1																			0		p.R3604P(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(10810-10812)Cgg>Tgg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		C	TRP/ARG	0,4406		0,0,2203	45	41	42		10810	4.1	0.6	17		42	3,8595	3.0+/-9.4	0,3,4296	yes	missense	DNAH2	NM_020877.2	101	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	3604/4428	7722376	3,13001	2203	4299	6502	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7722376C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10810C>T	17.37:g.7722376C>T	ENSP00000458355:p.Arg3604Trp					DNAH2_uc010cnm.1_Missense_Mutation_p.R542W	p.R3604W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			69	10824	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3604					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10810C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643763	0.67244	0.0	3.49E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.54866	0.55	4.07	4.07	0.47477	.	0.168746	0.37219	N	0.002199	D	0.84042	0.5385	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.90495	0.4470	10	0.87932	D	0	.	13.3004	0.60321	0.0:1.0:0.0:0.0	.	3565;3604	Q9P225-2;Q9P225	.;DYH2_HUMAN	W	3565;3604	ENSP00000373825:R3604W	ENSP00000353818:R3565W	R	+	1	2	DNAH2	7663101	0.999000	0.42202	0.636000	0.29352	0.051000	0.14879	4.097000	0.57741	2.087000	0.62958	0.462000	0.41574	CGG		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7722376	C	T	7722376	3	4	262	1	0	0	0	0	1	0	0	0	4602	759	27	1	11088	1	DNAH2	17	7722376	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	2604115	7722376	73472834	40	18731											
KRT33A	3883	broad.mit.edu	37	chr17	39506774	39506774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgaggttctccagctcCgcgttgtcccgctccagctg	4	10	12	15	4	1	1	0	1	1	0	5	2	4	2	4	2	2	5	4	2	0	2	rs61736449	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:39506774C>T	ENST00000007735.3	-	1	290	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784). {ECO:0000305}.		extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.602													c|||	10	0.00199681	0.0068	0.0014	5008	,	,		18114	0		0	False		,,,				2504	0					uc002hwk.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(244-246)gcG>gcA		Homo sapiens keratin 33A (KRT33A), mRNA.		T		42,4364	44.6+/-78.6	0,42,2161	90	83	85		246	-3.2	1	17	dbSNP_129	85	0,8600		0,0,4300	no	coding-synonymous	KRT33A	NM_004138.2		0,42,6461	TT,TC,CC		0.0,0.9532,0.3229		82/405	39506774	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506774C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.246G>A	17.37:g.39506774C>T							p.A82A	NM_004138	NP_004129	O76009	KT33A_HUMAN			0	283	-		Breast(137;0.000496)	82	A -> T (in Ref. 3; BAG36784).		Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.246G>A	CCDS11388.1																																																																																				0.602	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		T	39506774	C	T	39506774	2	4	262	1	0	0	0	0	0	0	0	1	8469	639	23	2		2	KRT33A	17	39506774	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08	31784398	39506774	41688436	41	18732											
ZNF516	9658	broad.mit.edu	37	chr18	74153649	74153649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaccaggacgtactcGcgcctgtccttgtcgaaggc	6	9	12	14	4	1	0	1	0	0	0	4	2	2	1	3	3	1	2	3	3	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr18:74153649G>A	ENST00000443185.2	-	3	1679	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGACGTACTCGCGCCTGTCCT	0.731																																						uc021ulp.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1360-1362)cgC>cgT		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.							4	5	5					18																	74153649		2007	4055	6062	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153649G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1362C>T	18.37:g.74153649G>A							p.R454R	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1680	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	454						Silent	SNP	ENST00000443185.2	37	c.1362C>T																																																																																					0.731	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		A	74153649	G	A	74153649	2	1	262	1	0	0	0	0	0	0	0	1	17957	1074	38	1		1	ZNF516	18	74153649	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		74153649	3923599	42	18733											
GRIN3B	116444	broad.mit.edu	37	chr19	1005285	1005285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcttcctcaccgtgtaCgagtggcgtagcccctacgg	5	9	12	15	5	2	0	1	0	1	0	3	1	3	0	4	2	3	3	4	2	3	4			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:1005285C>T	ENST00000234389.3	+	3	1804	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	595					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACCGTGTACGAGTGGCGTA	0.652																																						uc002lqo.1																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1783-1785)taC>taT		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						81	71	75					19																	1005285		2203	4300	6503	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005285C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1785C>T	19.37:g.1005285C>T							p.Y595Y	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1785	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	595					Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1785C>T	CCDS32861.1																																																																																				0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			T	1005285	C	T	1005285	2	4	262	1	0	0	0	0	0	0	0	1	6784	547	19	1		1	GRIN3B	19	1005285	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		1005285	58123698	43	18734											
DENND1C	79958	broad.mit.edu	37	chr19	6472910	6472910	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatacctgtttgaacAgctgcaggtgcacagcccgc	8	9	11	13	1	1	1	0	1	1	0	1	1	1	1	2	2	6	5	2	2	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:6472910A>C	ENST00000381480.2	-	15	1260	c.1148T>G	c.(1147-1149)cTg>cGg	p.L383R	DENND1C_ENST00000543576.1_Missense_Mutation_p.L339R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	383	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGTTTGAACAGCTGCAGGTG	0.627																																						uc002mfe.3																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(1147-1149)cTg>cGg		Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.							19	22	21					19																	6472910		1940	4151	6091	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6472910A>C	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1148T>G	19.37:g.6472910A>C	ENSP00000370889:p.Leu383Arg					DENND1C_uc002mfb.3_5'UTR|DENND1C_uc002mfc.3_5'UTR|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.L339R	p.L383R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			14	1240	-			383			dDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.1148T>G	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	a	16.50	3.141321	0.57044	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.47869	0.83;0.83	4.9	4.9	0.64082	dDENN (3);	0.317190	0.30101	N	0.010411	T	0.62600	0.2441	M	0.65975	2.015	0.33497	D	0.58938	P	0.52842	0.956	P	0.62649	0.905	T	0.74982	-0.3478	10	0.87932	D	0	-12.1304	10.8842	0.46957	1.0:0.0:0.0:0.0	.	383	Q8IV53	DEN1C_HUMAN	R	383;339	ENSP00000370889:L383R;ENSP00000437805:L339R	ENSP00000370889:L383R	L	-	2	0	DENND1C	6423910	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	4.662000	0.61525	1.849000	0.53698	0.375000	0.23000	CTG		0.627	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		C	6472910	A	C	6472910	3	2	262	1	0	0	0	0	1	0	0	0	4428	188	7	5	1293	5	DENND1C	19	6472910	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	5467625	6472910	52656073	44	18735											
CD209	30835	broad.mit.edu	37	chr19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccacttctttgcaggCggtgatggagtcgtgccagt	5	10	14	12	2	1	1	0	1	1	0	2	2	1	2	3	4	2	1	3	4	0	2	rs139712001		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													c|||	1	0.000199681	8e-04	0	5008	,	,		17657	0		0	False		,,,				2504	0					uc002mht.2																			1	Substitution - Missense(1)	p.A283T(2)|p.T282T(1)	large_intestine(1)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(847-849)Gcc>Acc		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	9.9+/-24.2	0,4,2199	85	81	82		439,715,571,775,847,364,847	-0.1	0	19	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,8,6495	TT,TC,CC		0.0465,0.0908,0.0615	benign,benign,benign,benign,benign,benign,benign	147/269,239/361,191/313,259/381,283/399,122/244,283/405	7809880	8,12998	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809880C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.847G>A	19.37:g.7809880C>T	ENSP00000315477:p.Ala283Thr					CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	p.A283T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	914	-			283			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.847G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007084	0.35415	9.08E-4	4.65E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	3.29	-0.0555	0.13809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.27169	0.0666	L	0.45581	1.43	0.09310	N	1	D;D;P;D;P;P;D;D;D;P;D	0.89917	1.0;1.0;0.955;0.998;0.909;0.918;0.98;1.0;0.999;0.956;1.0	D;D;P;D;B;P;B;D;D;B;D	0.97110	0.955;0.967;0.799;0.964;0.234;0.522;0.421;1.0;0.951;0.345;0.996	T	0.13176	-1.0519	9	0.87932	D	0	.	2.7211	0.05201	0.2253:0.5221:0.0:0.2526	.	283;283;259;239;147;259;191;283;213;259;283	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	283;283;259;239;191;147;267	ENSP00000315477:A283T;ENSP00000346373:A283T;ENSP00000315407:A259T;ENSP00000204801:A239T;ENSP00000301357:A147T	ENSP00000204801:A239T	A	-	1	0	CD209	7715880	0.006000	0.16342	0.007000	0.13788	0.027000	0.11550	-0.132000	0.10467	0.085000	0.17107	0.455000	0.32223	GCC		0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7809880	C	T	7809880	3	4	262	1	0	0	0	0	1	0	0	0	2984	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	1336970	7809880	51319103	45	18736											
ZNF761	388561	broad.mit.edu	37	chr19	53959098	53959098	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtaatgagtgtggaaagaCctttagccggacatcatccc	11	10	11	9	1	1	2	1	1	0	1	2	4	2	4	3	2	1	1	3	2	3	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:53959098C>T	ENST00000454407.1	+	0	1790							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGTGGAAAGACCTTTAGCCGG	0.383																																						uc010eqp.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1336-1338)aCc>aTc		Homo sapiens zinc finger protein 761 (ZNF761), mRNA.							113	120	118					19																	53959098		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959098C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959098C>T						ZNF761_uc010ydy.2_Missense_Mutation_p.T392I|ZNF761_uc002qbt.2_Missense_Mutation_p.T392I	p.T446I	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	6	1795	+			446					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1337C>T																																																																																					0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		T	53959098	C	T	53959098	1	4	262	0	1	0	0	0	0	0	0	0	18133	507	18	3		3	ZNF761	19	53959098	RNA	SNP	C	TCGA-76-4931-01A-01D-1486-08	46149218	53959098	5169885	46	18737											
CEP250	11190	broad.mit.edu	37	chr20	34092288	34092288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagatccaggaccaggatCtccgataccaggaggatgtg	11	7	14	9	1	1	1	0	1	1	1	3	7	2	5	4	4	1	0	4	4	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr20:34092288C>G	ENST00000397527.1	+	30	6811	c.6091C>G	c.(6091-6093)Ctc>Gtc	p.L2031V	CEP250_ENST00000342580.4_Missense_Mutation_p.L1975V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2031	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACCAGGATCTCCGATACCA	0.597																																						uc021wco.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6091-6093)Ctc>Gtc		Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.							31	32	32					20																	34092288		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092288C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6091C>G	20.37:g.34092288C>G	ENSP00000380661:p.Leu2031Val					CEP250_uc010zve.2_Missense_Mutation_p.L1399V	p.L2031V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		29	6738	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2031			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6091C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	7.436	0.639789	0.14386	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.52057	2.73;2.69;0.68	4.91	2.94	0.34122	.	0.000000	0.49916	D	0.000124	T	0.58935	0.2157	L	0.49126	1.545	0.25637	N	0.986244	D	0.71674	0.998	D	0.83275	0.996	T	0.48479	-0.9032	10	0.41790	T	0.15	.	11.2962	0.49280	0.0:0.8463:0.0:0.1537	.	2031	Q9BV73	CP250_HUMAN	V	2031;1975;519	ENSP00000380661:L2031V;ENSP00000341541:L1975V;ENSP00000395992:L519V	ENSP00000341541:L1975V	L	+	1	0	CEP250	33555702	0.002000	0.14202	0.845000	0.33349	0.157000	0.22087	0.674000	0.25218	1.301000	0.44836	-0.136000	0.14681	CTC		0.597	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		G	34092288	C	G	34092288	3	3	262	1	0	0	0	0	1	0	0	0	3252	913	32	5	6197	5	CEP250	20	34092288	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		34092288	28933232	47	18738											
SUSD2	56241	broad.mit.edu	37	chr22	24579586	24579586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggacaacggccactcCttccctcgtgcgggcacctg	6	8	10	17	3	1	0	1	0	0	0	4	1	3	1	4	3	2	1	4	3	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:24579586C>T	ENST00000358321.3	+	3	672	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	137					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACGGCCACTCCTTCCCTCGTG	0.642																																						uc002zzn.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(409-411)tcC>tcT		Homo sapiens sushi domain containing 2 (SUSD2), mRNA.							87	75	79					22																	24579586		2202	4300	6502	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579586C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.411C>T	22.37:g.24579586C>T							p.S137S	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			2	455	+			137					Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.411C>T	CCDS13824.1																																																																																				0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		T	24579586	C	T	24579586	2	4	262	1	0	0	0	0	0	0	0	1	15405	668	24	3		3	SUSD2	22	24579586	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		24579586	26724980	48	18739											
CCDC157	550631	broad.mit.edu	37	chr22	30766543	30766543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcccagaccattgagacgGccctggtgccctgtgacgca	8	7	11	15	2	0	3	0	2	0	2	1	4	1	3	4	2	1	1	4	2	0	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30766543G>A	ENST00000405659.1	+	5	1358	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	CCDC157_ENST00000338306.3_Missense_Mutation_p.A217T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	217										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CATTGAGACGGCCCTGGTGCC	0.622																																						uc011aku.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(649-651)Gcc>Acc		Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.							91	79	83					22																	30766543		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766543G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.649G>A	22.37:g.30766543G>A	ENSP00000385357:p.Ala217Thr					CCDC157_uc011akv.2_Missense_Mutation_p.A217T	p.A217T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			4	1309	+			217					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.649G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490515	0.84962	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.26957	1.7;1.7	5.54	5.54	0.83059	.	0.133261	0.51477	D	0.000093	T	0.42653	0.1212	M	0.61703	1.905	0.39421	D	0.966925	D	0.63880	0.993	D	0.63033	0.91	T	0.31024	-0.9958	10	0.56958	D	0.05	-29.1128	9.6869	0.40105	0.0:0.1916:0.6746:0.1338	.	217	Q569K6	CC157_HUMAN	T	217	ENSP00000385357:A217T;ENSP00000343087:A217T	ENSP00000343087:A217T	A	+	1	0	CCDC157	29096543	0.643000	0.27269	0.950000	0.38849	0.887000	0.51463	1.298000	0.33412	2.884000	0.98904	0.655000	0.94253	GCC		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30766543	G	A	30766543	3	1	262	1	0	0	0	0	1	0	0	0	2789	1203	42	3	659	3	CCDC157	22	30766543	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	6186957	30766543	20538023	49	18740											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951178	30951178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtggcccccgtcgatgCagatggtccgcatgcgctcg	4	7	15	15	7	0	1	0	0	0	1	3	2	1	1	3	3	2	3	3	3	0	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30951178C>T	ENST00000402321.1	-	3	1351	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.C345Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	345					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCCGTCGATGCAGATGGTCCG	0.711																																						uc003aig.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1033-1035)tGc>tAc		Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.							23	24	23					22																	30951178		2200	4293	6493	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951178C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1034G>A	22.37:g.30951178C>T	ENSP00000385735:p.Cys345Tyr					GAL3ST1_uc003aih.1_Missense_Mutation_p.C345Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.C345Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C345Y	p.C345Y	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			3	1174	-			345					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1034G>A	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667730	0.88348	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79463	-0.1793	10	0.87932	D	0	-74.1708	19.0729	0.93147	0.0:1.0:0.0:0.0	.	345	Q99999	G3ST1_HUMAN	Y	345	ENSP00000385825:C345Y;ENSP00000385735:C345Y;ENSP00000384122:C345Y;ENSP00000384388:C345Y;ENSP00000343234:C345Y;ENSP00000385207:C345Y;ENSP00000402587:C345Y	ENSP00000343234:C345Y	C	-	2	0	GAL3ST1	29281178	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.525000	0.81892	2.615000	0.88500	0.561000	0.74099	TGC		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		T	30951178	C	T	30951178	3	4	262	1	0	0	0	0	1	0	0	0	6197	710	25	3	241	3	GAL3ST1	22	30951178	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	184635	30951178	20353388	50	18741											
GYG2	8908	broad.mit.edu	37	chrX	2799104	2799104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctaggtcgacctggcCgtctctgtttcccagatctc	4	13	8	16	2	2	1	0	0	2	1	7	2	4	1	4	2	0	1	4	2	1	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:2799104C>T	ENST00000381163.3	+	12	1638	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	GYG2_ENST00000338623.5_Silent_p.A416A|GYG2_ENST00000542787.1_Silent_p.A381A|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Silent_p.A421A	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	452					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGACCTGGCCGTCTCTGTTT	0.542																																						uc004cqs.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1354-1356)gcC>gcT		Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.							108	80	90					X																	2799104		2203	4298	6501	SO:0001819	synonymous_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2799104C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1356C>T	X.37:g.2799104C>T						GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqx.2_Silent_p.A381A|GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc010ndc.1_Silent_p.A230A	p.A452A	NM_003918	NP_003909	O15488	GLYG2_HUMAN			11	1638	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	452					B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	c.1356C>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241298	0.01493	.	.	ENSG00000056998	ENST00000381157	.	.	.	4.03	1.11	0.20524	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.20074	N	0.999939	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	.	5.8136	0.18479	0.0:0.5162:0.3705:0.1133	.	.	.	.	C	235	.	.	R	+	1	0	GYG2	2809104	0.062000	0.20869	0.007000	0.13788	0.020000	0.10135	-0.030000	0.12308	-0.171000	0.10797	-0.223000	0.12442	CGT		0.542	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		T	2799104	C	T	2799104	2	4	262	1	0	0	0	0	0	0	0	1	6906	639	23	2		2	GYG2	23	2799104	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		2799104	152471456	51	18742											
ASB9	140462	broad.mit.edu	37	chrX	15266989	15266989	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaggcaggccagctCttcactggctgtcctggcca	7	8	12	14	0	2	1	1	1	1	0	3	1	3	1	3	4	2	4	3	4	0	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:15266989C>A	ENST00000380488.4	-	6	910	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ASB9_ENST00000380483.3_Nonsense_Mutation_p.E203*|ASB9_ENST00000380485.3_Nonsense_Mutation_p.E213*|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Nonsense_Mutation_p.E213*	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	213					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CAGGCCAGCTCTTCACTGGCT	0.567																																						uc004cwl.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(637-639)Gag>Tag		Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.							75	63	67					X																	15266989		2203	4300	6503	SO:0001587	stop_gained	140462				intracellular signal transduction			g.chrX:15266989C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.637G>T	X.37:g.15266989C>A	ENSP00000369855:p.Glu213*					ASB9_uc004cwm.3_Nonsense_Mutation_p.E203*|ASB9_uc004cwk.3_Nonsense_Mutation_p.E213*|ASB9_uc010ner.3_Nonsense_Mutation_p.E213*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E184*	p.E213*	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			5	934	-	Hepatocellular(33;0.183)		213					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Nonsense_Mutation	SNP	ENST00000380488.4	37	c.637G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507674	0.96386	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	.	.	.	5.92	5.06	0.68205	.	0.142474	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.2933	13.0831	0.59125	0.0:0.9218:0.0:0.0782	.	.	.	.	X	203;213;213;213	.	ENSP00000369850:E203X	E	-	1	0	ASB9	15176910	1.000000	0.71417	0.069000	0.20011	0.012000	0.07955	6.233000	0.72320	1.248000	0.43934	0.600000	0.82982	GAG		0.567	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			A	15266989	C	A	15266989	4	1	262	1	0	0	0	0	0	1	0	0	1030	922	32	5	284	5	ASB9	23	15266989	Nonsense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	12467885	15266989	140003571	52	18743											
APEX2	27301	broad.mit.edu	37	chrX	55032975	55032975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaagaggacccagggCgcaagtggatggacagcttg	10	7	16	8	1	0	2	0	1	0	1	0	5	0	5	1	4	1	3	1	4	2	2	rs187479006		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:55032975C>T	ENST00000374987.3	+	6	730	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	ALAS2_ENST00000498636.1_5'Flank|APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	222					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGACCCAGGGCGCAAGTGGAT	0.522								Other BER factors					C|||	2	0.000529801	0	0	3775	,	,		14908	0.001		0	False		,,,				2504	0.001					uc004dtz.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(664-666)Cgc>Tgc	Other BER factors	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.							32	28	29					X																	55032975		2203	4299	6502	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55032975C>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.664C>T	X.37:g.55032975C>T	ENSP00000364126:p.Arg222Cys					APEX2_uc011mom.2_Missense_Mutation_p.R51C	p.R222C	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			5	740	+			222					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.664C>T	CCDS14365.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.73	2.622497	0.46840	.	.	ENSG00000169188	ENST00000374987	T	0.70282	-0.47	4.53	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.102725	0.64402	D	0.000005	T	0.81828	0.4905	M	0.92367	3.3	0.80722	D	1	P	0.50710	0.938	P	0.48425	0.577	D	0.86897	0.2052	10	0.56958	D	0.05	-6.2877	15.9128	0.79485	0.0:1.0:0.0:0.0	.	222	Q9UBZ4	APEX2_HUMAN	C	222	ENSP00000364126:R222C	ENSP00000364126:R222C	R	+	1	0	APEX2	55049700	0.999000	0.42202	0.907000	0.35723	0.379000	0.30106	4.525000	0.60559	2.206000	0.71126	0.600000	0.82982	CGC		0.522	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			T	55032975	C	T	55032975	3	4	262	1	0	0	0	0	1	0	0	0	770	768	27	1	686	1	APEX2	23	55032975	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	39765986	55032975	100237585	53	18744											
ACRC	93953	broad.mit.edu	37	chrX	70830605	70830605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcagcactggtgagatGtggtacccaaagtggcggcg	9	9	15	8	2	0	1	0	1	0	1	0	2	0	1	1	4	3	3	1	4	3	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:70830605G>A	ENST00000373695.1	+	10	2223	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.M562I			Q96QF7	ACRC_HUMAN	acidic repeat containing	562	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGTGAGATGTGGTACCCAA	0.502																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1684-1686)atG>atA		Homo sapiens acidic repeat containing (ACRC), mRNA.							119	83	95					X																	70830605		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830605G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1686G>A	X.37:g.70830605G>A	ENSP00000362799:p.Met562Ile					BCYRN1_uc011mpt.1_Intron	p.M562I	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			10	2187	+	Renal(35;0.156)		562					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1686G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	7.827	0.718979	0.15372	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.42900	0.96;0.96	5.35	-10.7	0.00240	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.11836	0.0288	N	0.01874	-0.695	0.09310	N	1	B	0.15930	0.015	B	0.23852	0.049	T	0.29181	-1.0020	9	0.36615	T	0.2	.	1.4903	0.02455	0.4517:0.0887:0.2217:0.2379	.	562	Q96QF7	ACRC_HUMAN	I	562	ENSP00000362800:M562I;ENSP00000362799:M562I	ENSP00000362799:M562I	M	+	3	0	ACRC	70747330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	-2.749000	0.00375	-2.873000	0.00099	ATG		0.502	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70830605	G	A	70830605	3	1	262	1	0	0	0	0	1	0	0	0	171	1377	48	3	1724	3	ACRC	23	70830605	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	15797630	70830605	84439955	54	18745											
HCFC1	3054	broad.mit.edu	37	chrX	153236126	153236126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacgtgcagttcgtccaCtattccctcgttgccgccgc	5	11	9	16	5	0	0	0	0	0	0	4	0	2	0	4	0	3	4	4	0	2	5			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:153236126C>G	ENST00000310441.7	-	1	1132	c.166G>C	c.(166-168)Gtg>Ctg	p.V56L	TMEM187_ENST00000369982.4_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.V56L|HCFC1_ENST00000369984.4_Missense_Mutation_p.V56L|HCFC1-AS1_ENST00000438219.1_RNA	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	56					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCGTCCACTATTCCCTCG	0.657																																						uc004fjp.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(166-168)Gtg>Ctg		Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.							77	81	80					X																	153236126		2140	4197	6337	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153236126C>G		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.166G>C	X.37:g.153236126C>G	ENSP00000309555:p.Val56Leu					TMEM187_uc004fjq.2_5'Flank	p.V56L	NM_005334	NP_005325	P51610	HCFC1_HUMAN			0	694	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		56					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.166G>C	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470412	0.84533	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.73789	-0.78;-0.78;-0.78	3.62	3.62	0.41486	.	0.000000	0.64402	D	0.000001	T	0.81626	0.4862	L	0.59436	1.845	0.58432	D	0.999998	P	0.45428	0.858	P	0.60541	0.876	T	0.83301	-0.0028	10	0.59425	D	0.04	.	13.6426	0.62260	0.0:1.0:0.0:0.0	.	56	P51610	HCFC1_HUMAN	L	56	ENSP00000309555:V56L;ENSP00000359001:V56L;ENSP00000346174:V56L	ENSP00000309555:V56L	V	-	1	0	HCFC1	152889320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.169000	0.64984	1.785000	0.52413	0.436000	0.28706	GTG		0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		G	153236126	C	G	153236126	3	3	262	1	0	0	0	0	1	0	0	0	6991	565	20	5	6045	5	HCFC1	23	153236126	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	82405521	153236126	2034434	55	18746											
MEGF6	1953	broad.mit.edu	37	chr1	3425698	3425698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcatcggccccgAcgtcgtcatcctggaagagt	6	10	9	16	4	3	1	2	0	1	1	7	3	5	2	5	2	0	0	5	2	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:3425698A>G	ENST00000356575.4	-	12	1695	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	MEGF6_ENST00000294599.4_Missense_Mutation_p.V385A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	490						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ATCGGCCCCGACGTCGTCATC	0.682																																					Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1468-1470)gTc>gCc		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							15	19	18					1																	3425698		2007	4143	6150	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3425698A>G	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1469T>C	1.37:g.3425698A>G	ENSP00000348982:p.Val490Ala					MEGF6_uc001akk.3_Missense_Mutation_p.V385A	p.V490A	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	11	1696	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	490					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1469T>C	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	A	0.359	-0.940506	0.02322	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.86230	-2.09;-1.83	3.4	-1.76	0.08006	.	1.658660	0.04306	N	0.348106	T	0.74397	0.3711	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.15052	0.002;0.012	T	0.59590	-0.7426	10	0.02654	T	1	-2.0283	0.42	0.00455	0.2275:0.1449:0.2724:0.3551	.	490;385	O75095;O75095-2	MEGF6_HUMAN;.	A	385;490	ENSP00000294599:V385A;ENSP00000348982:V490A	ENSP00000294599:V385A	V	-	2	0	MEGF6	3415558	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.238000	0.18004	-0.555000	0.06142	0.379000	0.24179	GTC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3425698	A	G	3425698	3	3	263	1	0	0	0	0	1	0	0	0	9462	275	10	4	3260	4	MEGF6	1	3425698	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08		3425698	245824923	1	18747											
SNX7	51375	broad.mit.edu	37	chr1	99203845	99203845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtggaatgtgctaataatgCcctgaaagcagattgggaga	14	9	13	5	0	0	3	0	1	0	2	0	5	0	4	1	2	3	2	1	2	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:99203845C>T	ENST00000306121.3	+	8	1187	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	SNX7_ENST00000370189.5_Intron|SNX7_ENST00000529992.1_Missense_Mutation_p.A338V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	329					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCTAATAATGCCCTGAAAGCA	0.348																																						uc010ouc.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(1177-1179)gCc>gTc		Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.							140	139	139					1																	99203845		2203	4299	6502	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99203845C>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1178C>T	1.37:g.99203845C>T	ENSP00000304429:p.Ala393Val					SNX7_uc001dsa.3_Intron|SNX7_uc010oud.2_Missense_Mutation_p.A338V	p.A393V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	7	1230	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	329					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.1178C>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624110	0.66901	.	.	ENSG00000162627	ENST00000529992;ENST00000306121	T;T	0.30448	1.53;1.53	5.76	5.76	0.90799	.	0.048823	0.85682	D	0.000000	T	0.37320	0.0999	L	0.57536	1.79	0.80722	D	1	D;B	0.60575	0.988;0.34	P;B	0.57204	0.815;0.257	T	0.01549	-1.1327	10	0.26408	T	0.33	-13.0059	18.9458	0.92621	0.0:1.0:0.0:0.0	.	338;393	E9PNL2;Q9UNH6-3	.;.	V	338;393	ENSP00000434731:A338V;ENSP00000304429:A393V	ENSP00000304429:A393V	A	+	2	0	SNX7	98976433	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.905000	0.63286	2.706000	0.92434	0.591000	0.81541	GCC		0.348	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			T	99203845	C	T	99203845	3	4	263	1	0	0	0	0	1	0	0	0	14907	739	26	3	1208	3	SNX7	1	99203845	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	95778147	99203845	150046776	2	18748											
AMPD2	271	broad.mit.edu	37	chr1	110172108	110172108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgttgaaccacctgCgcaggtgcctgcaccaccct	7	8	10	16	1	0	1	0	1	0	0	0	1	0	1	6	2	4	3	6	2	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:110172108C>T	ENST00000256578.3	+	14	2380	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.R599C|AMPD2_ENST00000342115.4_Missense_Mutation_p.R593C|AMPD2_ENST00000528667.1_Missense_Mutation_p.R674C|AMPD2_ENST00000528454.1_Missense_Mutation_p.R556C|AMPD2_ENST00000393688.3_Missense_Mutation_p.R555C	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	674			R -> H (in PCH9). {ECO:0000269|PubMed:23911318}.		cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCACCTGCGCAGGTGCCT	0.602																																						uc009wfh.1																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2020-2022)Cgc>Tgc		Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.							180	172	175					1																	110172108		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172108C>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2020C>T	1.37:g.110172108C>T	ENSP00000256578:p.Arg674Cys					AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	p.R674C	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	14	2562	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	674					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.2020C>T	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308548|4.308548	0.81247|0.81247	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.82984	.|-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.43|4.43	4.43|4.43	0.53597|0.53597	.|Adenosine/AMP deaminase (1);	.|0.057335	.|0.64402	.|D	.|0.000002	D|D	0.93229|0.93229	0.7843|0.7843	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.996;1.0;1.0;0.999	D|D	0.95039|0.95039	0.8176|0.8176	5|10	.|0.87932	.|D	.|0	-26.9077|-26.9077	17.1969|17.1969	0.86895|0.86895	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|599;555;674;593	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|C	644|593;674;674;599;556;555	.|ENSP00000345498:R593C;ENSP00000436541:R674C;ENSP00000256578:R674C;ENSP00000351573:R599C;ENSP00000437164:R556C;ENSP00000377292:R555C	.|ENSP00000256578:R674C	A|R	+|+	2|1	0|0	AMPD2|AMPD2	109973631|109973631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.748000|5.748000	0.68697|0.68697	2.450000|2.450000	0.82876|0.82876	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			T	110172108	C	T	110172108	3	4	263	1	0	0	0	0	1	0	0	0	586	768	27	1	2115	1	AMPD2	1	110172108	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	10968263	110172108	139078513	3	18749											
FLG	2312	broad.mit.edu	37	chr1	152281686	152281686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtgtctagagctgtcGgcccgagaggaagcttcatg	8	9	15	9	3	2	2	1	0	1	2	3	5	2	3	1	2	3	2	1	2	2	2	rs370973678	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:152281686G>A	ENST00000368799.1	-	3	5711	c.5676C>T	c.(5674-5676)gcC>gcT	p.A1892A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1892	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1892A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGTCGGCCCGAGAGG	0.572									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)	p.A1892A(2)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5674-5676)gcC>gcT		Homo sapiens filaggrin (FLG), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	269	272	271		5676	-3.7	0	1		271	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1892/4062	152281686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281686G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5676C>T	1.37:g.152281686G>A							p.A1892A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5712	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1892			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5676C>T	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152281686	G	A	152281686	2	1	263	1	0	0	0	0	0	0	0	1	5922	1103	39	2		2	FLG	1	152281686	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	42109578	152281686	96968935	4	18750											
LELP1	149018	broad.mit.edu	37	chr1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaagaagctgctgcaaCgctgtttcgaaaagtgccca	12	10	10	9	2	0	1	0	0	0	1	1	2	0	1	1	0	5	6	1	0	6	3	rs573106359		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													C|||	1	0.000199681	0	0	5008	,	,		19136	0		0	False		,,,				2504	0.001					uc001fbl.3																			2	Substitution - Missense(2)	p.R42C(4)	large_intestine(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19						c.(124-126)Cgc>Tgc		Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.							172	150	157					1																	153177307		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177307C>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.124C>T	1.37:g.153177307C>T	ENSP00000357736:p.Arg42Cys					LELP1_uc021ozv.1_Missense_Mutation_p.R42C	p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	234	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.124C>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975532	0.18736	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.41	3.53	0.40419	.	0.000000	0.39407	N	0.001373	T	0.60235	0.2253	.	.	.	0.38639	D	0.951557	D	0.89917	1.0	D	0.67382	0.951	T	0.64153	-0.6474	8	0.56958	D	0.05	-16.5011	6.4963	0.22144	0.1797:0.7304:0.0:0.0899	.	42	Q5T871	LELP1_HUMAN	C	42	.	ENSP00000357736:R42C	R	+	1	0	LELP1	151443931	0.972000	0.33761	0.994000	0.49952	0.613000	0.37349	0.691000	0.25467	0.826000	0.34661	0.561000	0.74099	CGC		0.552	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		T	153177307	C	T	153177307	3	4	263	1	0	0	0	0	1	0	0	0	8718	536	19	1	126	1	LELP1	1	153177307	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	895621	153177307	96073314	5	18751											
NUP210L	91181	broad.mit.edu	37	chr1	154067448	154067448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcattggatccggtagatgTactggttctgttttctctta	6	17	11	7	1	2	1	0	0	2	1	4	2	3	2	1	4	1	5	1	4	3	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:154067448T>C	ENST00000368559.3	-	15	2221	c.2150A>G	c.(2149-2151)tAc>tGc	p.Y717C	NUP210L_ENST00000271854.3_Missense_Mutation_p.Y717C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	717					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCGGTAGATGTACTGGTTCTG	0.398																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2149-2151)tAc>tGc		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							89	84	85					1																	154067448		1865	4104	5969	SO:0001583	missense	91181					integral to membrane		g.chr1:154067448T>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2150A>G	1.37:g.154067448T>C	ENSP00000357547:p.Tyr717Cys					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.Y717C	p.Y717C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	2222	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		717					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2150A>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803550	0.70682	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23754	1.89;1.89	5.63	5.63	0.86233	.	0.000000	0.52532	D	0.000072	T	0.32912	0.0845	L	0.44542	1.39	0.41384	D	0.987577	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.07908	-1.0748	10	0.51188	T	0.08	-2.2454	14.0882	0.64973	0.0:0.0:0.0:1.0	.	717;717	E7EP56;Q5VU65	.;P210L_HUMAN	C	717	ENSP00000357547:Y717C;ENSP00000271854:Y717C	ENSP00000271854:Y717C	Y	-	2	0	NUP210L	152334072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.760000	0.62235	2.147000	0.66899	0.454000	0.30748	TAC		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		C	154067448	T	C	154067448	3	2	263	1	0	0	0	0	1	0	0	0	10761	1638	57	4	3620	4	NUP210L	1	154067448	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	890141	154067448	95183173	6	18752											
ANGEL2	90806	broad.mit.edu	37	chr1	213181756	213181756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttgtctcctaggatcttCgttttttctttatcatggct	4	23	6	8	1	4	0	1	0	3	0	6	1	4	1	1	2	0	2	1	2	2	9			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:213181756C>T	ENST00000366962.3	-	3	592	c.438G>A	c.(436-438)acG>acA	p.T146T	ANGEL2_ENST00000544555.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000540642.1_Silent_p.T20T|ANGEL2_ENST00000535388.1_5'UTR	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	146										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTAGGATCTTCGTTTTTTCTT	0.323																																						uc001hjz.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(436-438)acG>acA		Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.							136	133	134					1																	213181756		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213181756C>T	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.438G>A	1.37:g.213181756C>T						ANGEL2_uc010pto.2_Silent_p.T20T|ANGEL2_uc010ptp.2_Silent_p.T20T|ANGEL2_uc001hka.3_5'UTR|ANGEL2_uc010ptq.2_Non-coding_Transcript|ANGEL2_uc001hkb.3_Silent_p.T124T	p.T146T	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	593	-			146					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.438G>A	CCDS1512.1																																																																																				0.323	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		T	213181756	C	T	213181756	2	4	263	1	0	0	0	0	0	0	0	1	609	871	31	2		2	ANGEL2	1	213181756	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	59114308	213181756	36068865	7	18753											
OBSCN	84033	broad.mit.edu	37	chr1	228557749	228557749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggctgcccacctcagcGaagacgccaaagacttcatc	11	6	8	16	2	2	2	2	0	0	2	3	3	2	2	4	1	2	1	4	1	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:228557749G>A	ENST00000422127.1	+	91	20118	c.20074G>A	c.(20074-20076)Gaa>Aaa	p.E6692K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E4326K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E7649K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6692	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACCTCAGCGAAGACGCCAA	0.667																																						uc009xez.1																			0		p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(20074-20076)Gaa>Aaa		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							60	63	62					1																	228557749		1970	4155	6125	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557749G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20074G>A	1.37:g.228557749G>A	ENSP00000409493:p.Glu6692Lys					OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	p.E6692K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			90	20118	+		Prostate(94;0.0405)	6692			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20074G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.35|12.35	1.911686|1.911686	0.33721|0.33721	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.66280|.	-0.2;-0.2|.	4.72|4.72	0.491|0.491	0.16867|0.16867	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.39655|0.39655	0.1086|0.1086	L|L	0.52364|0.52364	1.645|1.645	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.31613|0.31613	-0.9937|-0.9937	9|5	0.44086|.	T|.	0.13|.	.|.	7.8573|7.8573	0.29489|0.29489	0.1567:0.2099:0.6334:0.0|0.1567:0.2099:0.6334:0.0	.|.	6692|.	Q5VST9|.	OBSCN_HUMAN|.	K|Q	6692;4326|1308	ENSP00000409493:E6692K;ENSP00000355668:E4326K|.	ENSP00000355668:E4326K|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226624372|226624372	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.179000|0.179000	0.23085|0.23085	0.476000|0.476000	0.22180|0.22180	-0.060000|-0.060000	0.13132|0.13132	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228557749	G	A	228557749	3	1	263	1	0	0	0	0	1	0	0	0	10812	1059	37	2	21642	2	OBSCN	1	228557749	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	15375993	228557749	20692872	8	18754											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccatagaagaatttgCggtaataataggccccaagg	13	10	9	9	1	0	2	0	0	0	2	1	2	1	2	3	3	1	1	3	3	7	6	rs569418675		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:232649623C>T	ENST00000366630.1	-	2	1821	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	488					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													C|||	1	0.000199681	0	0	5008	,	,		20567	0		0	False		,,,				2504	0.001					uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1462-1464)cGc>cAc		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							159	149	152					1																	232649623		1902	4119	6021	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649623C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1463G>A	1.37:g.232649623C>T	ENSP00000355589:p.Arg488His						p.R488H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			0	1621	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	488					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1463G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165195	0.38217	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.87412	-2.25;-2.25	5.39	5.39	0.77823	.	0.127474	0.53938	D	0.000060	D	0.83843	0.5342	L	0.48877	1.53	0.45239	D	0.998245	B	0.33807	0.426	B	0.28232	0.087	T	0.83134	-0.0112	10	0.49607	T	0.09	-30.6894	19.3561	0.94414	0.0:1.0:0.0:0.0	.	488	Q9P2F8	SI1L2_HUMAN	H	488	ENSP00000355589:R488H;ENSP00000262861:R488H	ENSP00000262861:R488H	R	-	2	0	SIPA1L2	230716246	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	3.554000	0.53720	2.810000	0.96702	0.650000	0.86243	CGC		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232649623	C	T	232649623	3	4	263	1	0	0	0	0	1	0	0	0	14330	768	27	1	3789	1	SIPA1L2	1	232649623	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	4091874	232649623	16600998	9	18755											
MFSD9	84804	broad.mit.edu	37	chr2	103335600	103335600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacagcacatgggtctttCgcaatggcaggcccttctct	8	10	9	14	1	2	0	0	0	2	0	4	0	2	0	2	3	2	3	2	3	2	2	rs372925047		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:103335600C>T	ENST00000258436.5	-	6	747	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ATGGGTCTTTCGCAATGGCAG	0.567																																						uc002tcb.2																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(703-705)cGa>cAa		Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.		C	GLN/ARG	0,4406		0,0,2203	104	103	103		704	-1	0	2		103	2,8598	2.2+/-6.3	0,2,4298	no	missense	MFSD9	NM_032718.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	235/475	103335600	2,13004	2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335600C>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.704G>A	2.37:g.103335600C>T	ENSP00000258436:p.Arg235Gln					MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R174Q	p.R235Q	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			5	772	-			235					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.704G>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	7.036	0.561553	0.13498	0.0	2.33E-4	ENSG00000135953	ENST00000258436	T	0.59083	0.29	4.97	-0.991	0.10235	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.199940	0.05557	N	0.568473	T	0.23926	0.0579	N	0.01874	-0.695	0.09310	N	1	B	0.20261	0.043	B	0.14578	0.011	T	0.08166	-1.0735	10	0.14252	T	0.57	-28.6151	1.3425	0.02157	0.1433:0.3075:0.1408:0.4083	.	235	Q8NBP5	MFSD9_HUMAN	Q	235	ENSP00000258436:R235Q	ENSP00000258436:R235Q	R	-	2	0	MFSD9	102702032	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.671000	0.05250	-0.432000	0.07297	-0.147000	0.13772	CGA		0.567	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		T	103335600	C	T	103335600	3	4	263	1	0	0	0	0	1	0	0	0	9539	884	31	2	724	2	MFSD9	2	103335600	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		103335600	139863773	10	18756											
SLC5A7	60482	broad.mit.edu	37	chr2	108626880	108626880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaacacctatggggccGtggcaggttatgtttctggc	8	10	13	10	1	1	0	0	0	1	0	1	1	1	0	3	5	2	3	3	5	4	3	rs148535388		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:108626880G>A	ENST00000264047.2	+	9	1582	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	SLC5A7_ENST00000540517.1_Missense_Mutation_p.V331M|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V436M	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	436					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATGGGGCCGTGGCAGGTTA	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		16339	0		0	False		,,,				2504	0					uc002tdv.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1306-1308)Gtg>Atg		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)	G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	163	148	153		1306	2.8	0	2	dbSNP_134	153	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC5A7	NM_021815.2	21	0,7,6496	AA,AG,GG		0.0349,0.0908,0.0538	benign	436/581	108626880	7,12999	2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626880G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1306G>A	2.37:g.108626880G>A	ENSP00000264047:p.Val436Met					SLC5A7_uc010ywm.2_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.3_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.2_Missense_Mutation_p.V323M	p.V436M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			8	1582	+			436					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1306G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766672	0.31228	9.08E-4	3.49E-4	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86865	-2.18;-2.18;-2.18	5.95	2.78	0.32641	.	0.429548	0.26800	N	0.022422	D	0.85080	0.5615	M	0.65498	2.005	0.21527	N	0.999653	B	0.20164	0.042	B	0.28849	0.095	T	0.77744	-0.2473	10	0.56958	D	0.05	-3.946	9.4998	0.39011	0.3257:0.0:0.6743:0.0	.	436	Q9GZV3	SC5A7_HUMAN	M	436;331;436	ENSP00000387346:V436M;ENSP00000445351:V331M;ENSP00000264047:V436M	ENSP00000264047:V436M	V	+	1	0	SLC5A7	107993312	1.000000	0.71417	0.014000	0.15608	0.959000	0.62525	3.839000	0.55835	0.866000	0.35629	-0.145000	0.13849	GTG		0.488	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108626880	G	A	108626880	3	1	263	1	0	0	0	0	1	0	0	0	14670	1145	40	1	1336	1	SLC5A7	2	108626880	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	5291280	108626880	134572493	11	18757											
ZRANB3	84083	broad.mit.edu	37	chr2	135958008	135958008	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttagcttgtctggcagtTctctaaaagttaaaaaatat	13	15	6	7	0	2	0	0	0	2	0	4	0	3	0	1	1	1	4	1	1	7	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:135958008T>C	ENST00000264159.6	-	21	3260	c.3144A>G	c.(3142-3144)agA>agG	p.R1048R	ZRANB3_ENST00000536680.1_Silent_p.R1046R|ZRANB3_ENST00000401392.1_Silent_p.R1046R|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1048	Endonuclease activity.|HNH.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTGGCAGTTCTCTAAAAGT	0.363																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(3142-3144)agA>agG		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							99	88	92					2																	135958008		1841	4099	5940	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135958008T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3144A>G	2.37:g.135958008T>C						ZRANB3_uc002tuk.3_Silent_p.R591R|ZRANB3_uc002tul.3_Silent_p.R1046R	p.R1048R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	20	3261	-			1048					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.3144A>G	CCDS46419.1																																																																																				0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		C	135958008	T	C	135958008	2	2	263	1	0	0	0	0	0	0	0	1	18221	1780	62	4		4	ZRANB3	2	135958008	Silent	SNP	T	TCGA-76-4932-01A-01D-1486-08	27331128	135958008	107241365	12	18758											
CWC22	57703	broad.mit.edu	37	chr2	180810270	180810270	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaatttgaaccacttgaAttttgatctctgtgtttttc	8	19	5	9	0	1	3	0	3	1	0	4	3	2	3	2	0	1	1	2	0	3	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:180810270A>G	ENST00000410053.3	-	20	2612	c.2313T>C	c.(2311-2313)aaT>aaC	p.N771N	CWC22_ENST00000295749.6_Silent_p.N771N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	771					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AACCACTTGAATTTTGATCTC	0.378																																						uc010frh.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2311-2313)aaT>aaC		Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.							204	190	195					2																	180810270		1846	4105	5951	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810270A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2313T>C	2.37:g.180810270A>G						CWC22_uc002uno.2_Silent_p.N293N|CWC22_uc002unp.2_Silent_p.N771N	p.N771N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			19	2613	-			771					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.2313T>C	CCDS46465.1																																																																																				0.378	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		G	180810270	A	G	180810270	2	3	263	1	0	0	0	0	0	0	0	1	4068	98	4	4		4	CWC22	2	180810270	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08	44852262	180810270	62389103	13	18759											
FAM134A	79137	broad.mit.edu	37	chr2	220046109	220046109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcgtcaggggaagaatgCacccccaggaggtgatgagc	12	4	16	9	1	1	4	1	2	0	2	1	6	1	6	2	4	3	1	2	4	2	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:220046109C>T	ENST00000430297.2	+	7	939	c.803C>T	c.(802-804)gCa>gTa	p.A268V		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	268						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAAGAATGCACCCCCAGGA	0.547																																						uc002vjw.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(802-804)gCa>gTa		Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.							64	65	65					2																	220046109		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046109C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.803C>T	2.37:g.220046109C>T	ENSP00000395249:p.Ala268Val					FAM134A_uc010fwc.3_Missense_Mutation_p.A61V|FAM134A_uc002vjx.3_Missense_Mutation_p.A61V	p.A268V	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	939	+		Renal(207;0.0915)	268					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.803C>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	9.240	1.038005	0.19669	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T	0.45276	0.9;1.45	4.94	1.41	0.22369	.	0.593958	0.17566	N	0.169652	T	0.27241	0.0668	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.17167	-1.0378	10	0.21014	T	0.42	8.2305	0.189	0.00132	0.2829:0.2612:0.145:0.311	.	61;268	E7EUL4;Q8NC44	.;F134A_HUMAN	V	61;268;61;61	ENSP00000403898:A61V;ENSP00000395249:A268V	ENSP00000395249:A268V	A	+	2	0	FAM134A	219754353	0.779000	0.28652	0.100000	0.21137	0.565000	0.35776	1.714000	0.37961	0.193000	0.20303	-0.345000	0.07892	GCA		0.547	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		T	220046109	C	T	220046109	3	4	263	1	0	0	0	0	1	0	0	0	5445	710	25	3	829	3	FAM134A	2	220046109	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	39235839	220046109	23153264	14	18760											
PAX3	5077	broad.mit.edu	37	chr2	223161799	223161799	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacacgcgcagctggcgCgagatgacgcagggccggat	8	4	18	11	6	0	2	0	1	0	1	0	5	0	4	1	4	1	3	1	4	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:223161799C>T	ENST00000350526.4	-	2	355	c.219G>A	c.(217-219)tcG>tcA	p.S73S	PAX3_ENST00000336840.6_Silent_p.S73S|PAX3_ENST00000409828.3_Silent_p.S73S|PAX3_ENST00000409551.3_Silent_p.S73S|PAX3_ENST00000392070.2_Silent_p.S73S|PAX3_ENST00000344493.4_Silent_p.S73S|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000258387.5_Silent_p.S73S|PAX3_ENST00000392069.2_Silent_p.S73S	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	73	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		S -> L (in WS1). {ECO:0000269|PubMed:10779847}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGCGCGAGATGACGC	0.647			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(217-219)tcG>tcA		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							38	36	37					2																	223161799		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223161799C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.219G>A	2.37:g.223161799C>T						PAX3_uc002vmt.2_Silent_p.S73S|PAX3_uc002vmy.2_Silent_p.S73S|PAX3_uc002vmv.2_Silent_p.S73S|PAX3_uc002vmw.2_Silent_p.S73S|PAX3_uc002vmx.2_Silent_p.S73S|PAX3_uc002vmz.2_Silent_p.S73S|PAX3_uc002vna.2_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	p.S73S	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	600	-		Renal(207;0.0183)	73		S -> L (in WS1).	Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.219G>A	CCDS42826.1																																																																																				0.647	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223161799	C	T	223161799	2	4	263	1	0	0	0	0	0	0	0	1	11480	755	27	1		1	PAX3	2	223161799	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	3115690	223161799	20037574	15	18761											
COL4A4	1286	broad.mit.edu	37	chr2	227922184	227922184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatacccagggagtcccGgttgccctggtatccctgga	6	9	13	13	1	0	0	0	0	0	0	2	3	2	3	4	5	2	2	4	5	2	3	rs199562472		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:227922184G>A	ENST00000396625.3	-	29	2723	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P839L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	839	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGGAGTCCCGGTTGCCCTGG	0.537																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2515-2517)cCg>cTg		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							33	35	34					2																	227922184		1877	4113	5990	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227922184G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2516C>T	2.37:g.227922184G>A	ENSP00000379866:p.Pro839Leu					COL4A4_uc021vxs.1_Missense_Mutation_p.P839L	p.P839L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	27	2617	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	839			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2516C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487704	0.04352	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94046	-3.34;-3.34	5.82	5.82	0.92795	.	.	.	.	.	D	0.93145	0.7817	M	0.84082	2.675	0.20403	N	0.999905	P	0.52577	0.954	B	0.40659	0.336	D	0.88791	0.3278	9	0.33940	T	0.23	.	14.633	0.68671	0.0:0.1453:0.8547:0.0	.	839	P53420	CO4A4_HUMAN	L	839	ENSP00000379866:P839L;ENSP00000328553:P839L	ENSP00000328553:P839L	P	-	2	0	COL4A4	227630428	1.000000	0.71417	0.070000	0.20053	0.382000	0.30200	4.122000	0.57910	2.760000	0.94817	0.655000	0.94253	CCG		0.537	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227922184	G	A	227922184	3	1	263	1	0	0	0	0	1	0	0	0	3693	1116	39	2	2636	2	COL4A4	2	227922184	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	4760385	227922184	15277189	16	18762											
CNTN4	152330	broad.mit.edu	37	chr3	2787313	2787313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaacccaagatgctggaaCgtaccagtgcacagcgacaa	16	5	9	11	2	0	1	0	0	0	1	0	3	0	2	2	1	6	3	2	1	6	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:2787313C>T	ENST00000397461.1	+	5	674	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CNTN4_ENST00000418658.1_Missense_Mutation_p.T97M|CNTN4_ENST00000427331.1_Missense_Mutation_p.T97M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	97	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATGCTGGAACGTACCAGTGC	0.408																																						uc003bpc.3																			0		p.E96K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(289-291)aCg>aTg		Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.							168	156	160					3																	2787313		1919	4136	6055	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787313C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.290C>T	3.37:g.2787313C>T	ENSP00000380602:p.Thr97Met					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.T97M|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	p.T97M	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	629	+		Ovarian(110;0.156)	97			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.290C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879143	0.17395	.	.	ENSG00000144619	ENST00000422330;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.81	4.04	0.47022	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.528419	0.20568	N	0.089800	T	0.58352	0.2116	L	0.41632	1.29	0.44871	D	0.997882	B;B	0.29988	0.264;0.154	B;B	0.33890	0.172;0.122	T	0.53129	-0.8482	10	0.36615	T	0.2	.	11.3901	0.49809	0.0:0.8005:0.0:0.1995	.	97;97	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	97;97;97;115;97	ENSP00000408594:T97M;ENSP00000396010:T97M;ENSP00000380602:T97M;ENSP00000404085:T115M;ENSP00000413642:T97M	ENSP00000380602:T97M	T	+	2	0	CNTN4	2762313	0.014000	0.17966	0.494000	0.27515	0.722000	0.41435	0.295000	0.19065	0.811000	0.34303	0.655000	0.94253	ACG		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			T	2787313	C	T	2787313	3	4	263	1	0	0	0	0	1	0	0	0	3643	536	19	1	300	1	CNTN4	3	2787313	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		2787313	195235117	17	18763											
CHST13	166012	broad.mit.edu	37	chr3	126260762	126260762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccaactggaagcgcGtgctgctggcgctgagcggc	6	6	15	14	4	0	1	0	1	0	0	0	2	0	2	2	3	6	4	2	3	2	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:126260762G>A	ENST00000319340.2	+	3	417	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	123					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGAAGCGCGTGCTGCTGGC	0.716																																						uc003eja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)Gtg>Atg		Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.							23	17	19					3																	126260762		2195	4283	6478	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260762G>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.367G>A	3.37:g.126260762G>A	ENSP00000317404:p.Val123Met						p.V123M	NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	2	412	+			123					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.367G>A	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656815	0.88154	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.75589	-0.95	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90942	0.4798	10	0.87932	D	0	-8.6502	15.4253	0.75045	0.0:0.0:1.0:0.0	.	123	Q8NET6	CHSTD_HUMAN	M	123	ENSP00000317404:V123M	ENSP00000317404:V123M	V	+	1	0	CHST13	127743452	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.453000	0.80700	2.227000	0.72691	0.491000	0.48974	GTG		0.716	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		A	126260762	G	A	126260762	3	1	263	1	0	0	0	0	1	0	0	0	3401	1145	40	1	377	1	CHST13	3	126260762	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	123473449	126260762	71761668	18	18764											
ECE2	9718	broad.mit.edu	37	chr3	184009860	184009860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcccgcaggtgtggtgctCggtccgcacaccagagagct	6	7	15	13	3	0	1	0	0	0	1	2	2	1	1	3	4	2	4	3	4	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:184009860C>T	ENST00000402825.3	+	19	2486	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.S757L|ECE2_ENST00000359140.4_Missense_Mutation_p.S682L|ECE2_ENST00000404464.3_Missense_Mutation_p.S711L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	829	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGTGCTCGGTCCGCACA	0.647																																						uc003fni.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2485-2487)tCg>tTg		Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.							35	37	36					3																	184009860		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009860C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2486C>T	3.37:g.184009860C>T	ENSP00000384223:p.Ser829Leu					ECE2_uc003fnl.4_Missense_Mutation_p.S757L|ECE2_uc003fnm.4_Missense_Mutation_p.S711L|ECE2_uc003fnk.4_Missense_Mutation_p.S682L	p.S829L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2524	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		829			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2486C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808250	0.90707	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	4.85	4.85	0.62838	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.91693	0.7374	M	0.88704	2.975	0.80722	D	1	D;D;D;D	0.89917	0.987;1.0;0.999;0.999	P;D;P;D	0.68483	0.687;0.958;0.897;0.95	D	0.92402	0.5930	10	0.51188	T	0.08	-10.3397	15.5139	0.75806	0.0:1.0:0.0:0.0	.	711;757;682;829	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	L	829;682;711;757	ENSP00000384223:S829L;ENSP00000352052:S682L;ENSP00000385846:S711L;ENSP00000350066:S757L	ENSP00000350066:S757L	S	+	2	0	ECE2	185492554	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.065000	0.71176	2.515000	0.84797	0.491000	0.48974	TCG		0.647	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		T	184009860	C	T	184009860	3	4	263	1	0	0	0	0	1	0	0	0	4890	893	31	2	3124	2	ECE2	3	184009860	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	57749098	184009860	14012570	19	18765											
PDE6B	5158	broad.mit.edu	37	chr4	619767	619767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgtgcagccggacagcGtcctggaggactgcctggtg	6	7	16	12	3	1	0	1	0	0	0	2	3	2	3	3	4	5	1	3	4	0	0	rs201253138	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:619767G>A	ENST00000496514.1	+	1	373	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PDE6B_ENST00000255622.6_Missense_Mutation_p.V118I			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	118	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCCGGACAGCGTCCTGGAGGA	0.657													G|||	3	0.000599042	0	0	5008	,	,		17019	0.003		0	False		,,,				2504	0				GBM(71;463 1194 9848 25922 46834)	uc003gap.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(352-354)Gtc>Atc		Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.							16	14	15					4																	619767		2194	4294	6488	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619767G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.352G>A	4.37:g.619767G>A	ENSP00000420295:p.Val118Ile					PDE6B_uc003gao.4_Missense_Mutation_p.V118I	p.V118I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN			0	405	+			118			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.352G>A	CCDS33932.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.56	1.973278	0.34848	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.69306	-0.39;-0.39	4.98	-2.89	0.05665	GAF (2);	1.261530	0.05543	N	0.566072	T	0.52773	0.1755	L	0.38531	1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.40040	-0.9584	10	0.42905	T	0.14	.	6.5924	0.22654	0.6019:0.1953:0.2028:0.0	.	118;118	P35913;P35913-2	PDE6B_HUMAN;.	I	118	ENSP00000255622:V118I;ENSP00000420295:V118I	ENSP00000255622:V118I	V	+	1	0	PDE6B	609767	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	-0.128000	0.10531	-0.457000	0.07033	-0.258000	0.10820	GTC		0.657	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		A	619767	G	A	619767	3	1	263	1	0	0	0	0	1	0	0	0	11646	1145	40	1	354	1	PDE6B	4	619767	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		619767	190534509	20	18766											
AASDH	132949	broad.mit.edu	37	chr4	57237647	57237647	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcactctatgatgggaaaaGagaacgctggctaattttga	13	11	11	6	1	2	3	1	2	1	1	2	5	2	4	0	2	1	2	0	2	5	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:57237647G>C	ENST00000205214.6	-	5	1011	c.831C>G	c.(829-831)ctC>ctG	p.L277L	AASDH_ENST00000513376.1_Silent_p.L177L|AASDH_ENST00000502617.1_Silent_p.L277L|AASDH_ENST00000602986.1_Silent_p.L124L|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.L277L|AASDH_ENST00000510762.1_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	277					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GATGGGAAAAGAGAACGCTGG	0.353																																						uc003hbn.3																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(829-831)ctC>ctG		Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.							89	83	85					4																	57237647		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57237647G>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.831C>G	4.37:g.57237647G>C						AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Silent_p.L177L|AASDH_uc011caa.2_Silent_p.L124L|AASDH_uc011cab.2_5'UTR|AASDH_uc010ihc.3_Silent_p.L277L|AASDH_uc003hbp.3_Silent_p.L277L	p.L277L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			4	984	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	277					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.831C>G	CCDS3504.1																																																																																				0.353	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		C	57237647	G	C	57237647	2	2	263	1	0	0	0	0	0	0	0	1	22	929	33	5		5	AASDH	4	57237647	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	56617880	57237647	133916629	21	18767											
FRG1	2483	broad.mit.edu	37	chr4	190876274	190876274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgttcagatgcaattggaCcaagagaacaatgggaacca	15	6	12	8	1	1	2	1	0	0	2	1	5	1	4	2	3	3	2	2	3	5	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:190876274C>A	ENST00000226798.4	+	5	622	c.400C>A	c.(400-402)Cca>Aca	p.P134T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	134					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCAATTGGACCAAGAGAACA	0.358																																						uc003izs.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(400-402)Cca>Aca		Homo sapiens FSHD region gene 1 (FRG1), mRNA.							90	90	90					4																	190876274		2203	4300	6503	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876274C>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.400C>A	4.37:g.190876274C>A	ENSP00000226798:p.Pro134Thr						p.P134T	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	591	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	134					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.400C>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.845	1.192173	0.21954	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.48522	1.79;0.81	4.04	4.04	0.47022	Actin cross-linking (1);	0.168316	0.56097	D	0.000034	T	0.43545	0.1252	L	0.47016	1.485	0.38129	D	0.938087	B	0.26147	0.143	B	0.34346	0.18	T	0.50482	-0.8823	10	0.51188	T	0.08	-20.035	10.2736	0.43497	0.0:0.7978:0.2022:0.0	.	134	Q14331	FRG1_HUMAN	T	134;71	ENSP00000226798:P134T;ENSP00000435943:P71T	ENSP00000226798:P134T	P	+	1	0	FRG1	191113268	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.544000	0.53640	1.964000	0.57103	0.567000	0.79289	CCA		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876274	C	A	190876274	3	1	263	1	0	0	0	0	1	0	0	0	6046	507	18	5	418	5	FRG1	4	190876274	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	133638627	190876274	278002	22	18768											
PRDM9	56979	broad.mit.edu	37	chr5	23527430	23527430	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagaggacacacacagggGagaagccctatgtctgcagg	13	4	13	11	0	1	2	0	0	1	2	1	4	1	3	2	4	2	1	2	4	2	1	rs200775234	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:23527430G>T	ENST00000296682.3	+	11	2415	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	745					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.582										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2233-2235)Gag>Tag		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							35	46	43					5																	23527430		2086	4255	6341	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527430G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2233G>T	5.37:g.23527430G>T	ENSP00000296682:p.Glu745*	HNSCC(3;0.000094)					p.E745*	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	2415	+			745					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.2233G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435038	0.96150	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1633	0.54115	0.0:0.0:1.0:0.0	.	.	.	.	X	745	.	ENSP00000296682:E745X	E	+	1	0	PRDM9	23563187	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	3.617000	0.54181	1.973000	0.57446	0.484000	0.47621	GAG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527430	G	T	23527430	4	4	263	1	0	0	0	0	0	1	0	0	12463	1175	41	5	2271	5	PRDM9	5	23527430	Nonsense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		23527430	157387830	23	18769											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728680	118728680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacccaaaacaagaaggaGgcagagaagatcatcaagaa	21	3	9	8	0	2	4	2	0	0	4	2	6	2	5	1	2	2	1	1	2	8	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:118728680G>T	ENST00000503646.1	+	3	889	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TNFAIP8_ENST00000504642.1_Missense_Mutation_p.E69D|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.E79D|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.E57D|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.E67D|TNFAIP8_ENST00000415806.2_3'UTR			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	67					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ACAAGAAGGAGGCAGAGAAGA	0.443																																						uc003ksi.3																			0				ovary(1)	1						c.(199-201)gaG>gaT		Homo sapiens tumor necrosis factor, alpha-induced protein 8 (TNFAIP8), transcript variant 1, mRNA.							68	65	66					5																	118728680		2020	4189	6209	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728680G>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.201G>T	5.37:g.118728680G>T	ENSP00000421848:p.Glu67Asp					TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.3_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.2_Missense_Mutation_p.E61D	p.E67D	NM_014350	NP_055165	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	1	391	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	67					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.201G>T	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810198	0.50421	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.8	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.34106	0.0886	L	0.59436	1.845	0.80722	D	1	B;B;B	0.21606	0.058;0.032;0.004	B;B;B	0.24701	0.055;0.042;0.011	T	0.10847	-1.0612	10	0.36615	T	0.2	-9.7704	9.9752	0.41779	0.2007:0.0:0.7993:0.0	.	79;67;57	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	D	57;35;79;67;67;69	ENSP00000274456:E57D;ENSP00000429432:E35D;ENSP00000427424:E79D;ENSP00000422245:E67D;ENSP00000421848:E67D;ENSP00000427160:E69D	ENSP00000274456:E57D	E	+	3	2	TNFAIP8	118756579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.748000	0.94277	0.655000	0.94253	GAG		0.443	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		T	118728680	G	T	118728680	3	4	263	1	0	0	0	0	1	0	0	0	16273	991	35	5	212	5	TNFAIP8	5	118728680	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	95201250	118728680	62186580	24	18770											
PCDHA1	56147	broad.mit.edu	37	chr5	140167119	140167119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggacagcgccctggatcGcgagagcctgtcggtctatg	6	9	15	11	4	1	1	0	0	1	1	3	4	1	3	2	3	2	1	2	3	1	2	rs568406742		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140167119G>A	ENST00000504120.2	+	1	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R415H|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R415H	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGATCGCGAGAGCCTG	0.637													.|||	1	0.000199681	8e-04	0	5008	,	,		17547	0		0	False		,,,				2504	0					uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1243-1245)cGc>cAc		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							126	122	124					5																	140167119		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167119G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1244G>A	5.37:g.140167119G>A	ENSP00000420840:p.Arg415His					PCDHAC2_uc003lha.2_Missense_Mutation_p.R415H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415H	p.R415H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1244	+			429			Cadherin 4.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1244G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.057401	0.36277	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01725	4.67;4.67;4.67	4.02	3.14	0.36123	Cadherin (4);Cadherin-like (1);	0.000000	0.38720	U	0.001596	T	0.07728	0.0194	M	0.77712	2.385	0.28103	N	0.931316	D;D;D	0.67145	0.996;0.976;0.986	D;B;P	0.67103	0.949;0.307;0.534	T	0.02417	-1.1162	10	0.72032	D	0.01	.	7.862	0.29516	0.088:0.1639:0.7482:0.0	.	415;415;415	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	H	415	ENSP00000420840:R415H;ENSP00000378129:R415H;ENSP00000367373:R415H	ENSP00000367373:R415H	R	+	2	0	PCDHA1	140147303	0.984000	0.35163	0.224000	0.23877	0.002000	0.02628	5.590000	0.67530	0.823000	0.34589	-0.282000	0.10007	CGC		0.637	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140167119	G	A	140167119	3	1	263	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1246	1	PCDHA1	5	140167119	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	21438439	140167119	40748141	25	18771											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719024	140719024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcgcatgatgcagacgtAggtgagaacgcccttcagaa	13	7	12	9	3	1	4	1	2	0	3	1	5	1	4	1	1	3	3	1	1	4	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140719024A>G	ENST00000394576.2	+	1	486	c.486A>G	c.(484-486)gtA>gtG	p.V162V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(484-486)gtA>gtG		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							89	86	87					5																	140719024		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719024A>G	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.486A>G	5.37:g.140719024A>G						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.V162V	p.V162V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	671	+			162			Cadherin 2.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.486A>G	CCDS47289.1																																																																																				0.522	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		G	140719024	A	G	140719024	2	3	263	1	0	0	0	0	0	0	0	1	11554	407	15	4		4	PCDHGA2	5	140719024	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08	551905	140719024	40196236	26	18772											
DEFB110	245913	broad.mit.edu	37	chr6	49976857	49976857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttccagagtttatacGcagcactgacttctccattt	8	17	5	11	1	2	2	0	1	2	1	4	2	3	2	2	0	2	3	2	0	2	8			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:49976857G>A	ENST00000393660.2	-	2	182	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	64					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GAGTTTATACGCAGCACTGAC	0.343																																						uc011dwr.2																			0		p.C60C(1)		endometrium(1)|lung(1)|ovary(1)	3						c.(181-183)tgC>tgT		Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.							157	147	150					6																	49976857		1885	4117	6002	SO:0001819	synonymous_variant	245913				defense response to bacterium	extracellular region		g.chr6:49976857G>A	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000393660.2:c.183C>T	6.37:g.49976857G>A							p.C61C	NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN			1	229	-	Lung NSC(77;0.042)		64					Q30KR0	Silent	SNP	ENST00000393660.2	37	c.183C>T	CCDS43473.1																																																																																				0.343	DEFB110-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359663.1	NM_001037728		A	49976857	G	A	49976857	2	1	263	1	0	0	0	0	0	0	0	1	4400	1079	38	1		1	DEFB110	6	49976857	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08		49976857	121138210	27	18773											
SFRS13B	135295	broad.mit.edu	37	chr6	89808574	89808574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagccaaaattccttcttGgagttcttgactgccttgct	8	15	8	10	0	2	2	0	1	2	1	3	3	3	3	3	1	3	2	3	1	3	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:89808574G>A	ENST00000452027.2	-	5	702	c.509C>T	c.(508-510)cCa>cTa	p.P170L		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	170	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ATTCCTTCTTGGAGTTCTTGA	0.453																																						uc021zcq.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(508-510)cCa>cTa		Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.							306	285	291					6																	89808574		1875	4105	5980	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808574G>A	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.509C>T	6.37:g.89808574G>A	ENSP00000414302:p.Pro170Leu						p.P170L	NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN			4	703	-			170			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.509C>T	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524881	0.64747	.	.	ENSG00000154548	ENST00000452027	T	0.09723	2.95	5.13	4.24	0.50183	.	0.000000	0.56097	D	0.000040	T	0.05364	0.0142	L	0.50333	1.59	0.51233	D	0.999911	B	0.17852	0.024	B	0.15052	0.012	T	0.12837	-1.0532	10	0.29301	T	0.29	.	13.164	0.59560	0.0809:0.0:0.919:0.0	.	170	Q8WXF0	SRS12_HUMAN	L	170	ENSP00000414302:P170L	ENSP00000414302:P170L	P	-	2	0	SRSF12	89865293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.150000	0.64869	2.667000	0.90743	0.591000	0.81541	CCA		0.453	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		A	89808574	G	A	89808574	3	1	263	1	0	0	0	0	1	0	0	0	14169	1348	47	3	280	3	SFRS13B	6	89808574	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	39831717	89808574	81306493	28	18774											
KIAA1244	57221	broad.mit.edu	37	chr6	138599742	138599742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcggccgaccctggcGccaggcgtgatggtgagtgt	7	6	18	10	4	0	2	0	2	0	0	0	4	0	3	3	5	1	0	3	5	1	0	rs111857517		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:138599742G>A	ENST00000251691.4	+	13	2449	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGACCCTGGCGCCAGGCGTGA	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		20795	0		0	False		,,,				2504	0					uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2281-2283)gcG>gcA		Homo sapiens KIAA1244 (KIAA1244), mRNA.							82	70	74					6																	138599742		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138599742G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2283G>A	6.37:g.138599742G>A							p.A761A	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	2454	+	Breast(32;0.135)		761			SEC7.			Silent	SNP	ENST00000251691.4	37	c.2283G>A	CCDS5189.2																																																																																				0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138599742	G	A	138599742	2	1	263	1	0	0	0	0	0	0	0	1	8217	1074	38	1		1	KIAA1244	6	138599742	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	48791168	138599742	32515325	29	18775											
IGFBP3	3486	broad.mit.edu	37	chr7	45956872	45956872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatctgtgctctgagactcGtagtcaactttgtagcgctg	7	14	11	9	2	3	1	1	1	2	1	4	2	3	1	0	0	3	5	0	0	4	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:45956872G>A	ENST00000275521.6	-	2	703	c.570C>T	c.(568-570)taC>taT	p.Y190Y	IGFBP3_ENST00000381086.5_Silent_p.Y93Y|IGFBP3_ENST00000381083.4_Silent_p.Y196Y|IGFBP3_ENST00000465642.1_5'UTR	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	190					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCTGAGACTCGTAGTCAACTT	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tnr.3																			0				large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(586-588)taC>taT		Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	Mecasermin(DB01277)						181	160	167					7																	45956872		2203	4300	6503	SO:0001819	synonymous_variant	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956872G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.570C>T	7.37:g.45956872G>A			OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Silent_p.Y190Y|IGFBP3_uc003tnt.3_Silent_p.Y93Y	p.Y196Y	NM_001013398	NP_001013416	P17936	IBP3_HUMAN			1	720	-			190			Ser/Thr-rich.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Silent	SNP	ENST00000275521.6	37	c.588C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.718|7.718	0.696573|0.696573	0.15106|0.15106	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000417621|ENST00000428530	.|.	.|.	.|.	5.29|5.29	-6.09|-6.09	0.02145|0.02145	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34077	.|0.0885	.|.	.|.	.|.	0.22266|0.22266	N|N	0.999242|0.999242	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38373	.|-0.9664	.|4	.|.	.|.	.|.	-31.9254|-31.9254	13.262|13.262	0.60111|0.60111	0.7501:0.0:0.2499:0.0|0.7501:0.0:0.2499:0.0	.|.	.|.	.|.	.|.	X|M	52|42	.|.	.|.	R|T	-|-	1|2	2|0	IGFBP3|IGFBP3	45923397|45923397	0.003000|0.003000	0.15002|0.15002	0.678000|0.678000	0.29963|0.29963	0.926000|0.926000	0.56050|0.56050	-1.417000|-1.417000	0.02464|0.02464	-1.084000|-1.084000	0.03092|0.03092	-0.940000|-0.940000	0.02684|0.02684	CGA|ACG		0.502	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		A	45956872	G	A	45956872	2	1	263	1	0	0	0	0	0	0	0	1	7580	1140	40	1		1	IGFBP3	7	45956872	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08		45956872	113181791	30	18776											
TFPI2	7980	broad.mit.edu	37	chr7	93519456	93519456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagggcacttactttctatCctccagcaagcatcgtcgca	9	10	8	14	2	1	0	0	0	1	0	5	0	3	0	2	1	3	5	2	1	3	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:93519456C>T	ENST00000222543.5	-	2	576	c.264G>A	c.(262-264)agG>agA	p.R88R	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.R88R|AC002076.10_ENST00000435257.1_RNA	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	88					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TACTTTCTATCCTCCAGCAAG	0.617																																						uc003umy.1																			0		p.R88K(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(262-264)agG>agA		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							28	30	29					7																	93519456		2202	4300	6502	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519456C>T	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.264G>A	7.37:g.93519456C>T						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R	p.R88R	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		1	339	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		88					Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.264G>A	CCDS5632.1																																																																																				0.617	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		T	93519456	C	T	93519456	2	4	263	1	0	0	0	0	0	0	0	1	15806	854	30	3		3	TFPI2	7	93519456	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	47562584	93519456	65619207	31	18777											
PEG10	23089	broad.mit.edu	37	chr7	94293373	94293373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcgagaggttgccaaaCgcaagatcagacgcctgcgc	12	4	14	11	4	1	4	1	0	0	4	1	5	1	4	2	2	3	2	2	2	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:94293373C>T	ENST00000482108.1	+	2	984	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	PEG10_ENST00000488574.1_Missense_Mutation_p.R169C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTGCCAAACGCAAGATCAG	0.537																																						uc003uno.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(505-507)Cgc>Tgc		Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.							140	146	144					7																	94293373		2013	4174	6187	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293373C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.505C>T	7.37:g.94293373C>T	ENSP00000417587:p.Arg169Cys					PEG10_uc011kie.2_Missense_Mutation_p.R245C|PEG10_uc022ahn.1_Missense_Mutation_p.R169C	p.R169C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	984	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		169			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.505C>T	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109030	0.56398	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.15256	2.44;2.44	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.33059	0.0850	L	0.46157	1.445	0.36113	D	0.844909	D;D	0.89917	1.0;1.0	D;D	0.83275	0.971;0.996	T	0.33394	-0.9870	9	0.66056	D	0.02	.	11.9358	0.52872	0.0:1.0:0.0:0.0	.	245;169	B4DSP0;Q86TG7	.;PEG10_HUMAN	C	169	ENSP00000417587:R169C;ENSP00000418944:R169C	ENSP00000417587:R169C	R	+	1	0	PEG10	94131309	0.881000	0.30235	0.999000	0.59377	0.922000	0.55478	1.229000	0.32600	2.276000	0.75962	0.555000	0.69702	CGC		0.537	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		T	94293373	C	T	94293373	3	4	263	1	0	0	0	0	1	0	0	0	11719	536	19	1	739	1	PEG10	7	94293373	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	773917	94293373	64845290	32	18778											
ZYX	7791	broad.mit.edu	37	chr7	143080252	143080252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtcctggagccccaggtgGatctgggtcacaaccaaatc	10	7	11	13	0	2	0	1	0	1	0	4	2	3	2	4	4	2	0	4	4	2	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143080252G>A	ENST00000322764.5	+	5	1205	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000449423.2_Missense_Mutation_p.G200E|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_Missense_Mutation_p.G130E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	287					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCCCCAGGTGGATCTGGGTCA	0.577																																						uc003wcx.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(859-861)gGa>gAa		Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.							82	98	93					7																	143080252		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143080252G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.860G>A	7.37:g.143080252G>A	ENSP00000324422:p.Gly287Glu					ZYX_uc011ktd.2_Missense_Mutation_p.G130E|ZYX_uc003wcw.3_Missense_Mutation_p.G287E|ZYX_uc011kte.2_Missense_Mutation_p.G256E|ZYX_uc011ktf.2_Missense_Mutation_p.G130E	p.G287E	NM_003461	NP_003452	Q15942	ZYX_HUMAN			4	1018	+	Melanoma(164;0.205)		287					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.860G>A	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438149	0.43326	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.52754	0.72;0.66;0.65;0.67	3.52	2.61	0.31194	.	0.496867	0.16877	U	0.195878	T	0.53965	0.1829	M	0.67953	2.075	0.38251	D	0.941598	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.946	T	0.60100	-0.7329	10	0.10636	T	0.68	.	2.7826	0.05365	0.1077:0.1837:0.5196:0.189	.	200;287	B4DQR8;Q15942	.;ZYX_HUMAN	E	287;255;200;130	ENSP00000324422:G287E;ENSP00000346417:G255E;ENSP00000394158:G200E;ENSP00000376642:G130E	ENSP00000324422:G287E	G	+	2	0	ZYX	142790374	0.851000	0.29673	0.998000	0.56505	0.738000	0.42128	1.021000	0.30040	0.752000	0.32923	-0.175000	0.13238	GGA		0.577	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		A	143080252	G	A	143080252	3	1	263	1	0	0	0	0	1	0	0	0	18251	1174	41	3	874	3	ZYX	7	143080252	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	48786879	143080252	16058411	33	18779											
EPHA1	2041	broad.mit.edu	37	chr7	143095154	143095154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagaaccatctggtaccGttcttcatcctgtgggttgg	6	15	10	10	1	4	1	1	0	3	1	5	1	5	1	3	3	2	3	3	3	3	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143095154G>A	ENST00000275815.3	-	8	1560	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs11768549). {ECO:0000269|PubMed:17344846}.		activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R492W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATCTGGTACCGTTCTTCATCC	0.572																																						uc003wcz.3																			1	Substitution - Missense(1)	p.R492W(2)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1474-1476)Cgg>Tgg		Homo sapiens EPH receptor A1 (EPHA1), mRNA.							118	102	108					7																	143095154		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095154G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1474C>T	7.37:g.143095154G>A	ENSP00000275815:p.Arg492Trp						p.R492W	NM_005232	NP_005223	P21709	EPHA1_HUMAN			7	1561	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	492		R -> Q (in dbSNP:rs11768549).	Fibronectin type-III 2.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1474C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	4.133	0.022909	0.08006	.	.	ENSG00000146904	ENST00000275815	T	0.58210	0.35	4.52	-5.3	0.02738	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.240490	0.28332	N	0.015722	T	0.17619	0.0423	N	0.02011	-0.69	0.22156	N	0.999323	B	0.09022	0.002	B	0.01281	0.0	T	0.08310	-1.0728	10	0.54805	T	0.06	.	4.7865	0.13227	0.354:0.0:0.2565:0.3895	.	492	P21709	EPHA1_HUMAN	W	492	ENSP00000275815:R492W	ENSP00000275815:R492W	R	-	1	2	EPHA1	142805276	0.212000	0.23540	0.725000	0.30721	0.011000	0.07611	0.100000	0.15231	-0.742000	0.04790	-1.827000	0.00596	CGG		0.572	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143095154	G	A	143095154	3	1	263	1	0	0	0	0	1	0	0	0	5165	1144	40	1	1500	1	EPHA1	7	143095154	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	14902	143095154	16043509	34	18780											
ASB10	136371	broad.mit.edu	37	chr7	150878355	150878355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggtgatggactggcagcGgacgtcacaggcagccagca	10	5	15	11	3	1	1	1	1	0	0	2	3	1	3	1	5	3	3	1	5	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:150878355G>A	ENST00000420175.2	-	3	799	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ASB10_ENST00000422024.1_Missense_Mutation_p.R304C|ASB10_ENST00000434669.1_Missense_Mutation_p.R304C|ASB10_ENST00000377867.3_Missense_Mutation_p.R244C|ASB10_ENST00000275838.1_Missense_Mutation_p.R259C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	259					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACTGGCAGCGGACGTCACAG	0.647																																						uc003wjm.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(775-777)Cgc>Tgc		Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.							34	35	35					7																	150878355		2203	4296	6499	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878355G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.775C>T	7.37:g.150878355G>A	ENSP00000391137:p.Arg259Cys					ASB10_uc003wjl.1_Missense_Mutation_p.R259C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	p.R259C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1036	-			259					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.775C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444613	0.25987	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.70516	-0.49;-0.42;-0.44;-0.44;-0.47	5.24	1.35	0.21983	Ankyrin repeat-containing domain (3);	0.230210	0.44902	D	0.000402	T	0.67590	0.2909	L	0.29908	0.895	0.09310	N	0.999999	D;D;D	0.89917	0.999;0.999;1.0	P;P;P	0.61658	0.784;0.878;0.892	T	0.57382	-0.7821	10	0.59425	D	0.04	-4.2409	5.9781	0.19391	0.1482:0.0:0.584:0.2678	.	244;259;304	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	259;244;304;304;259	ENSP00000275838:R259C;ENSP00000367098:R244C;ENSP00000401369:R304C;ENSP00000398247:R304C;ENSP00000391137:R259C	ENSP00000275838:R259C	R	-	1	0	ASB10	150509288	0.994000	0.37717	0.082000	0.20525	0.002000	0.02628	2.160000	0.42348	0.315000	0.23110	-0.733000	0.03571	CGC		0.647	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		A	150878355	G	A	150878355	3	1	263	1	0	0	0	0	1	0	0	0	1014	1116	39	2	640	2	ASB10	7	150878355	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	7783201	150878355	8260308	35	18781											
DOCK5	80005	broad.mit.edu	37	chr8	25250313	25250313	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttcttgccaccagaCgatgtggattgaacggacca	9	12	9	11	2	1	2	0	1	1	1	2	5	2	4	4	2	2	0	4	2	1	5			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:25250313C>T	ENST00000276440.7	+	44	4486	c.4442C>T	c.(4441-4443)aCg>aTg	p.T1481M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1481	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCCACCAGACGATGTGGATT	0.428																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e44-1		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							114	87	96					8																	25250313		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25250313C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4441-1C>T	8.37:g.25250313C>T						DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Splice_Site_p.T1051_splice|DOCK5_uc003xej.3_Splice_Site	p.T1481_splice	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	44	4578	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1481			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4441_splice	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480238	0.63849	.	.	ENSG00000147459	ENST00000276440	T	0.18174	2.23	5.07	4.17	0.49024	.	0.056213	0.64402	D	0.000001	T	0.31389	0.0795	L	0.53729	1.69	0.51233	D	0.999913	P;P	0.34815	0.47;0.47	P;P	0.49597	0.498;0.616	T	0.10730	-1.0617	10	0.87932	D	0	.	14.0847	0.64949	0.2729:0.7271:0.0:0.0	.	1471;1481	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	M	1481	ENSP00000276440:T1481M	ENSP00000276440:T1481M	T	+	2	0	DOCK5	25306230	0.788000	0.28762	0.999000	0.59377	0.900000	0.52787	1.578000	0.36525	1.218000	0.43458	0.650000	0.86243	ACG		0.428	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation	T	25250313	C	T	25250313	5	4	263	1	0	0	0	0	0	0	1	0	4690	550	19	1	4616	1	DOCK5	8	25250313	Splice_Site	SNP	C	TCGA-76-4932-01A-01D-1486-08		25250313	121113709	36	18782											
CPSF1	29894	broad.mit.edu	37	chr8	145622709	145622709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaccacctacctccatgGtgccattctcccgcaccagc	7	7	8	19	1	1	0	0	0	1	0	3	0	2	0	7	2	3	2	7	2	1	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:145622709G>A	ENST00000349769.3	-	22	2472	c.2378C>T	c.(2377-2379)aCc>aTc	p.T793I	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	793					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TACCTCCATGGTGCCATTCTC	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2377-2379)aCc>aTc		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							27	31	29					8																	145622709		2203	4297	6500	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622709G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2378C>T	8.37:g.145622709G>A	ENSP00000339353:p.Thr793Ile						p.T793I	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		21	2453	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		793					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2378C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987183	0.53934	.	.	ENSG00000071894	ENST00000349769	T	0.45668	0.89	5.1	5.1	0.69264	.	0.244253	0.40908	D	0.000987	T	0.34337	0.0894	L	0.32530	0.975	0.39963	D	0.974684	B	0.06786	0.001	B	0.09377	0.004	T	0.11446	-1.0587	10	0.34782	T	0.22	-21.0657	15.9944	0.80230	0.0:0.0:1.0:0.0	.	793	Q10570	CPSF1_HUMAN	I	793	ENSP00000339353:T793I	ENSP00000339353:T793I	T	-	2	0	CPSF1	145593517	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.127000	0.64727	2.387000	0.81309	0.491000	0.48974	ACC		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145622709	G	A	145622709	3	1	263	1	0	0	0	0	1	0	0	0	3824	1261	44	3	2021	3	CPSF1	8	145622709	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	120372396	145622709	741313	37	18783											
NPR2	4882	broad.mit.edu	37	chr9	35808664	35808664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaccagctgaggctacgCataggggtccatactggtaa	11	8	12	10	1	0	2	0	2	0	0	1	2	1	2	2	4	3	4	2	4	4	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr9:35808664C>T	ENST00000342694.2	+	19	3126	c.2871C>T	c.(2869-2871)cgC>cgT	p.R957R	SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	957	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.		R -> C (in AMDM). {ECO:0000269|PubMed:15146390}.		bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGGCTACGCATAGGGGTCC	0.542																																						uc003zyd.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2869-2871)cgC>cgT		Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						81	76	78					9																	35808664		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35808664C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2871C>T	9.37:g.35808664C>T						NPR2_uc010mlb.3_Silent_p.R933R|SPAG8_uc003zye.3_Intron	p.R957R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		18	2871	+	all_epithelial(49;0.161)		957		R -> C (in AMDM).	Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.2871C>T	CCDS6590.1																																																																																				0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35808664	C	T	35808664	2	4	263	1	0	0	0	0	0	0	0	1	10595	697	25	3		3	NPR2	9	35808664	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08		35808664	105404767	38	18784											
OR4C16	219428	broad.mit.edu	37	chr11	55340484	55340484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatacagaagtgaaaaGtgccatgaggaagctttgga	17	7	13	4	0	0	4	0	2	0	2	0	7	0	6	1	2	3	1	1	2	7	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:55340484G>A	ENST00000314634.3	+	1	881	c.881G>A	c.(880-882)aGt>aAt	p.S294N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAAGTGAAAAGTGCCATGAGG	0.368																																						uc010rih.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(880-882)aGt>aAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.							46	44	44					11																	55340484		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340484G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.881G>A	11.37:g.55340484G>A	ENSP00000324913:p.Ser294Asn						p.S294N	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			0	881	+		all_epithelial(135;0.0748)	294					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.881G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.665743	0.00765	.	.	ENSG00000181935	ENST00000314634	T	0.36340	1.26	4.67	-4.04	0.04010	.	0.183316	0.38381	N	0.001707	T	0.09862	0.0242	N	0.05330	-0.07	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	10	0.02654	T	1	.	2.0753	0.03623	0.253:0.3824:0.2402:0.1243	.	294	Q8NGL9	OR4CG_HUMAN	N	294	ENSP00000324913:S294N	ENSP00000324913:S294N	S	+	2	0	OR4C16	55097060	0.000000	0.05858	0.906000	0.35671	0.325000	0.28411	-2.762000	0.00785	-1.010000	0.03396	-1.257000	0.01473	AGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		A	55340484	G	A	55340484	3	1	263	1	0	0	0	0	1	0	0	0	11049	1029	36	3	883	3	OR4C16	11	55340484	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		55340484	79666032	39	18785											
OR8H1	219469	broad.mit.edu	37	chr11	56058035	56058035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgaactacatttgagtcGcagaaatgcagtctgctcat	12	11	9	9	2	2	3	1	2	1	1	3	4	2	3	0	0	4	3	0	0	3	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:56058035G>A	ENST00000313022.2	-	1	531	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CATTTGAGTCGCAGAAATGCA	0.433																																						uc010rje.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(502-504)tgC>tgT		Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.							99	90	93					11																	56058035		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058035G>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.504C>T	11.37:g.56058035G>A							p.C168C	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			0	504	-	Esophageal squamous(21;0.00448)		168					B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.504C>T	CCDS31526.1																																																																																				0.433	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		A	56058035	G	A	56058035	2	1	263	1	0	0	0	0	0	0	0	1	11237	1079	38	1		1	OR8H1	11	56058035	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	717551	56058035	78948481	40	18786											
OSBP	5007	broad.mit.edu	37	chr11	59368009	59368009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttttccaatgcagttcTtcatgatgctccataaattg	9	17	6	9	0	3	1	1	1	2	0	5	1	5	1	2	0	2	4	2	0	3	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:59368009T>C	ENST00000263847.1	-	7	1750	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	424	Sterol binding. {ECO:0000250}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATGCAGTTCTTCATGATGCT	0.468																																						uc001noc.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1270-1272)aAg>aGg		Homo sapiens oxysterol binding protein (OSBP), mRNA.							212	199	203					11																	59368009		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59368009T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1271A>G	11.37:g.59368009T>C	ENSP00000263847:p.Lys424Arg					OSBP_uc009ymr.1_Non-coding_Transcript	p.K424R	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	6	1751	-		all_epithelial(135;0.000236)	424			Sterol binding (By similarity).		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1271A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401798	0.83120	.	.	ENSG00000110048	ENST00000263847	T	0.37752	1.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42799	-0.9430	10	0.19590	T	0.45	-27.3328	15.3	0.73940	0.0:0.0:0.0:1.0	.	424	P22059	OSBP1_HUMAN	R	424	ENSP00000263847:K424R	ENSP00000263847:K424R	K	-	2	0	OSBP	59124585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.105000	0.64084	0.533000	0.62120	AAG		0.468	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			C	59368009	T	C	59368009	3	2	263	1	0	0	0	0	1	0	0	0	11273	1609	56	4	1184	4	OSBP	11	59368009	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	3309974	59368009	75638507	41	18787											
ACTN3	8722	broad.mit.edu	37	chr11	66328735	66328737	+	IGR	DEL	AGG	AGG	-																															cagctgtgaccagacactgcAggaggagctggcacggcagc																										TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:66328735_66328737delAGG	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGACACTGCAGGAGGAGCTGGC	0.621																																						uc021qma.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						c.(151-156)caggag>cag		Homo sapiens actinin, alpha 3 (ACTN3), mRNA.																																				SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66328735_66328737delAGG	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328738_66328740delAGG						ACTN3_uc021qlz.1_Non-coding_Transcript	p.E53del			Q08043	ACTN3_HUMAN			5	665_667	+			635			Actin-binding.|CH 1.		B2R964|O95240|Q9NSU4|Q9UKQ5	In_Frame_Del	DEL	ENST00000310325.5	37	c.152_154delAGG	CCDS8144.1																																																																																				0.621	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		-	66328737	AGG	-	66328735	6	5	263	0	1	1	0	1	0	0	0	0	206	188	7	0		0	ACTN3	11	66328735	IGR	DEL	AGG	TCGA-76-4932-01A-01D-1486-08	6960726	66328735	68677781	42	18788											
NAALAD2	10003	broad.mit.edu	37	chr11	89882229	89882229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctatgagaatgttacaaAtattgtgccaccatataatg	14	13	8	6	0	0	1	0	1	0	1	0	2	0	1	2	1	2	2	2	1	7	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:89882229A>G	ENST00000534061.1	+	4	667	c.437A>G	c.(436-438)aAt>aGt	p.N146S	NAALAD2_ENST00000525171.1_Missense_Mutation_p.N146S|NAALAD2_ENST00000321955.4_Missense_Mutation_p.N146S|NAALAD2_ENST00000375944.3_Missense_Mutation_p.N146S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	146					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATGTTACAAATATTGTGCCA	0.328																																						uc001pdf.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(436-438)aAt>aGt		Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.							89	91	90					11																	89882229		2199	4290	6489	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89882229A>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.437A>G	11.37:g.89882229A>G	ENSP00000432481:p.Asn146Ser					NAALAD2_uc009yvx.3_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.3_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.3_Missense_Mutation_p.N146S	p.N146S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			3	546	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	146					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.437A>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634062	0.29068	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.37	4.24	0.50183	.	0.494876	0.20690	N	0.087470	T	0.28499	0.0705	L	0.28458	0.855	0.34585	D	0.714837	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27971	-1.0058	9	.	.	.	-9.6137	9.2428	0.37506	0.8537:0.0:0.1463:0.0	.	146;146;146;146;146	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	S	146;146;146;146;92	ENSP00000432481:N146S;ENSP00000320083:N146S;ENSP00000435249:N146S;ENSP00000365111:N146S;ENSP00000435670:N92S	.	N	+	2	0	NAALAD2	89521877	0.994000	0.37717	0.998000	0.56505	0.977000	0.68977	2.210000	0.42816	0.884000	0.36064	0.451000	0.29950	AAT		0.328	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		G	89882229	A	G	89882229	3	3	263	1	0	0	0	0	1	0	0	0	10128	101	4	4	451	4	NAALAD2	11	89882229	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	23553494	89882229	45124287	43	18789											
CLSTN3	9746	broad.mit.edu	37	chr12	7310162	7310162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgtcctgggcctggtgCgcatccattcccttcaccgc	3	11	11	16	3	1	0	1	0	0	0	5	0	4	0	5	3	1	1	5	3	0	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:7310162C>T	ENST00000266546.6	+	17	3055	c.2605C>T	c.(2605-2607)Cgc>Tgc	p.R869C	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881C	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGCCTGGTGCGCATCCATTC	0.657																																						uc001qss.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2641-2643)Cgc>Tgc		Homo sapiens calsyntenin 3 (CLSTN3), mRNA.							70	59	63					12																	7310162		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7310162C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2605C>T	12.37:g.7310162C>T	ENSP00000266546:p.Arg869Cys					CLSTN3_uc001qsr.3_Missense_Mutation_p.R869C|CLSTN3_uc001qst.3_Missense_Mutation_p.R277C	p.R881C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			15	3179	+			869					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2641C>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982974	0.74474	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39406	1.08;1.08	4.72	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.99;0.999	T	0.71196	-0.4664	10	0.87932	D	0	-28.1793	14.6025	0.68450	0.1471:0.8529:0.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	C	869;881	ENSP00000266546:R869C;ENSP00000440679:R881C	ENSP00000266546:R869C	R	+	1	0	CLSTN3	7201429	1.000000	0.71417	0.997000	0.53966	0.506000	0.33950	4.765000	0.62271	1.319000	0.45190	0.462000	0.41574	CGC		0.657	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7310162	C	T	7310162	3	4	263	1	0	0	0	0	1	0	0	0	3563	768	27	1	2671	1	CLSTN3	12	7310162	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		7310162	126541733	44	18790											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacttggcagaatatgCgcccaatctcagaggcagtg	10	8	13	10	2	1	2	1	0	1	2	2	3	1	3	1	3	1	2	1	3	3	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:27841316C>T	ENST00000318304.8	+	25	2757	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	825	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473																																						uc001ric.2																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2473-2475)gCg>gTg		Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.							249	241	244					12																	27841316		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841316C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2474C>T	12.37:g.27841316C>T	ENSP00000314724:p.Ala825Val					PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.2_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.3_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.2_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.2_Missense_Mutation_p.A332V|TRNA_Lys_uc021qwh.1_5'Flank	p.A825V	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN			24	2851	+	Lung SC(9;0.0873)		825			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2474C>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.485176|5.485176	0.96323|0.96323	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	D;D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95;-1.95|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.33959|.	U|.	0.004396|.	D|D	0.84356|0.84356	0.5454|0.5454	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.972;1.0|.	D|D	0.86957|0.86957	0.2089|0.2089	10|5	0.66056|.	D|.	0.02|.	-13.8284|-13.8284	18.5085|18.5085	0.90907|0.90907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;656;825;819;794|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|C	656;672;825;794;819|56	ENSP00000444304:A656V;ENSP00000445425:A672V;ENSP00000314724:A825V;ENSP00000443442:A794V;ENSP00000228425:A819V|.	ENSP00000228425:A819V|.	A|R	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27732583|27732583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.716000|7.716000	0.84723|0.84723	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		T	27841316	C	T	27841316	3	4	263	1	0	0	0	0	1	0	0	0	12313	768	27	1	2592	1	PPFIBP1	12	27841316	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	20531154	27841316	106010579	45	18791											
SLC38A4	55089	broad.mit.edu	37	chr12	47163175	47163175	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtatccagctgaagggtcGtttgggaaataacagtgtga	11	11	13	6	2	0	2	0	2	0	0	3	3	1	3	1	2	2	3	1	2	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:47163175G>A	ENST00000447411.1	-	14	1542	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	SLC38A4_ENST00000266579.4_Nonsense_Mutation_p.R446*	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	446					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGAAGGGTCGTTTGGGAAAT	0.363																																						uc001rpi.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1336-1338)Cga>Tga		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							143	133	136					12																	47163175		2203	4300	6503	SO:0001587	stop_gained	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163175G>A	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1336C>T	12.37:g.47163175G>A	ENSP00000389843:p.Arg446*					SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	p.R446*	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			14	1735	-	Lung SC(27;0.192)|Renal(347;0.236)		446					A8K553	Nonsense_Mutation	SNP	ENST00000447411.1	37	c.1336C>T	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	42	9.731944	0.99249	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	.	.	.	5.66	4.51	0.55191	.	0.217160	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.5079	13.115	0.59295	0.0:0.0:0.1342:0.8657	.	.	.	.	X	446	.	ENSP00000266579:R446X	R	-	1	2	SLC38A4	45449442	1.000000	0.71417	0.984000	0.44739	0.938000	0.57974	2.866000	0.48420	0.976000	0.38417	-0.546000	0.04227	CGA		0.363	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			A	47163175	G	A	47163175	4	1	263	1	0	0	0	0	0	1	0	0	14606	1153	40	1	319	1	SLC38A4	12	47163175	Nonsense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	19321859	47163175	86688720	46	18792											
DNAJC22	79962	broad.mit.edu	37	chr12	49745175	49745175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctagtgaaggtctggcacCcagaccacaacctggaccag	12	5	11	13	0	1	2	0	1	1	1	1	3	1	3	4	3	2	2	4	3	3	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:49745175C>T	ENST00000549441.2	+	4	2120	c.916C>T	c.(916-918)Cca>Tca	p.P306S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.P306S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	306	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGTCTGGCACCCAGACCACAA	0.522																																						uc001rua.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(916-918)Cca>Tca		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.							63	64	64					12																	49745175		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49745175C>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.916C>T	12.37:g.49745175C>T	ENSP00000446830:p.Pro306Ser					DNAJC22_uc001rub.3_Missense_Mutation_p.P306S	p.P306S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			2	1317	+			306			J.		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.916C>T	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922988	0.92319	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	D;D	0.89875	-2.58;-2.58	5.44	5.44	0.79542	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97432	1.0016	10	0.87932	D	0	-12.1723	16.7976	0.85606	0.0:1.0:0.0:0.0	.	306	Q8N4W6	DJC22_HUMAN	S	306	ENSP00000446830:P306S;ENSP00000378508:P306S	ENSP00000378508:P306S	P	+	1	0	DNAJC22	48031442	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.910000	0.75741	2.833000	0.97629	0.555000	0.69702	CCA		0.522	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		T	49745175	C	T	49745175	3	4	263	1	0	0	0	0	1	0	0	0	4641	623	22	3	922	3	DNAJC22	12	49745175	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	2582000	49745175	84106720	47	18793											
TARBP2	7786	broad.mit.edu	37	chr12	53895818	53895818	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagagcaaatgctggccGccaacccaggcaagaccccg	12	4	11	14	2	0	2	0	0	0	2	0	2	0	2	5	2	3	4	5	2	5	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:53895818G>A	ENST00000267079.2	-	0	0				TARBP2_ENST00000394357.2_Missense_Mutation_p.A4T|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_5'Flank|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000266987.2_Missense_Mutation_p.A25T|TARBP2_ENST00000456234.2_Missense_Mutation_p.A4T|TARBP2_ENST00000552857.1_Intron|RP11-793H13.11_ENST00000602306.1_RNA	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AATGCTGGCCGCCAACCCAGG	0.592																																						uc001sdo.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(73-75)Gcc>Acc		Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.							90	79	83					12																	53895818		2203	4300	6503	SO:0001631	upstream_gene_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53895818G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895818G>A	Exception_encountered					MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Missense_Mutation_p.A25T|TARBP2_uc001sdp.3_Missense_Mutation_p.A4T|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Missense_Mutation_p.A4T	p.A25T	NM_134323	NP_599151	Q15633	TRBP2_HUMAN			1	561	+			25			Sufficient for interaction with PRKRA.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.73G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919088	0.52546	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	T;T;T	0.66099	-0.14;-0.19;-0.19	4.09	4.09	0.47781	.	0.141443	0.46758	D	0.000261	T	0.33469	0.0864	N	0.08118	0	0.31403	N	0.676477	B;B;B	0.30824	0.296;0.091;0.027	B;B;B	0.19148	0.024;0.017;0.007	T	0.33574	-0.9863	10	0.14252	T	0.57	-4.2863	9.5508	0.39308	0.0:0.0:0.6699:0.3301	.	25;25;25	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	T	25;4;25;4	ENSP00000266987:A25T;ENSP00000416077:A4T;ENSP00000377885:A4T	ENSP00000266987:A25T	A	+	1	0	TARBP2	52182085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.774000	0.55341	2.286000	0.76751	0.467000	0.42956	GCC		0.592	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		A	53895818	G	A	53895818	1	1	263	0	1	0	0	0	0	0	0	0	15553	1087	38	1		1	TARBP2	12	53895818	5'Flank	SNP	G	TCGA-76-4932-01A-01D-1486-08	4150643	53895818	79956077	48	18794											
CCDC63	160762	broad.mit.edu	37	chr12	111322003	111322003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcggttcacgtatgtcacGgagctcaacaacgacatgga	11	8	11	11	4	3	0	3	0	0	0	4	3	3	2	0	3	3	4	0	3	3	2	rs549200490	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:111322003G>A	ENST00000308208.5	+	8	1265	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_ENST00000545036.1_Silent_p.T301T|CCDC63_ENST00000552694.1_Silent_p.T262T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552													G|||	2	0.000399361	0	0	5008	,	,		20757	0.002		0	False		,,,				2504	0					uc001trv.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(1021-1023)acG>acA		Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.							114	105	108					12																	111322003		2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111322003G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1023G>A	12.37:g.111322003G>A						CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	p.T341T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			7	1218	+			341					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1023G>A	CCDS9151.1																																																																																				0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		A	111322003	G	A	111322003	2	1	263	1	0	0	0	0	0	0	0	1	2834	1103	39	2		2	CCDC63	12	111322003	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	57426185	111322003	22529892	49	18795											
OASL	8638	broad.mit.edu	37	chr12	121469372	121469372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccgcaggccttgatcAggctcacatagacctcaggg	10	6	11	14	1	3	2	3	1	0	1	3	3	3	2	4	3	0	2	4	3	1	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:121469372A>G	ENST00000257570.5	-	3	800	c.530T>C	c.(529-531)cTg>cCg	p.L177P	OASL_ENST00000339275.5_Missense_Mutation_p.L177P	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	177					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGATCAGGCTCACATA	0.552																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(529-531)cTg>cCg		Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.							75	73	74					12																	121469372		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121469372A>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.530T>C	12.37:g.121469372A>G	ENSP00000257570:p.Leu177Pro					OASL_uc001tzk.1_Missense_Mutation_p.L177P	p.L177P	NM_003733	NP_003724	Q15646	OASL_HUMAN			2	536	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		177					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.530T>C	CCDS9211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.155543|4.155543	0.78114|0.78114	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000257570;ENST00000339275|ENST00000543677	T;T|.	0.60424|.	0.19;0.19|.	5.52|5.52	5.52|5.52	0.82312|0.82312	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.223479|.	0.22936|.	N|.	0.053857|.	T|.	0.78091|.	0.4229|.	M|M	0.87971|0.87971	2.92|2.92	0.48288|0.48288	D|D	0.999625|0.999625	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|.	0.81127|.	-0.1074|.	10|.	0.87932|.	D|.	0|.	-19.449|-19.449	11.9555|11.9555	0.52978|0.52978	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	177;177|.	Q15646-2;Q15646|.	.;OASL_HUMAN|.	P|R	177|75	ENSP00000257570:L177P;ENSP00000341125:L177P|.	ENSP00000257570:L177P|.	L|X	-|-	2|1	0|0	OASL|OASL	119953755|119953755	1.000000|1.000000	0.71417|0.71417	0.759000|0.759000	0.31340|0.31340	0.361000|0.361000	0.29550|0.29550	5.225000|5.225000	0.65294|0.65294	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	CTG|TGA		0.552	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		G	121469372	A	G	121469372	3	3	263	1	0	0	0	0	1	0	0	0	10802	188	7	4	1030	4	OASL	12	121469372	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	10147369	121469372	12382523	50	18796											
RIMBP2	23504	broad.mit.edu	37	chr12	130934752	130934752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcacttacctatagcGggcaacacagaggtggacct	10	6	13	12	2	0	1	0	0	0	1	0	2	0	2	3	4	3	2	3	4	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:130934752G>A	ENST00000261655.4	-	6	686	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMBP2_ENST00000535703.1_Missense_Mutation_p.R83C|RIMBP2_ENST00000536002.1_Missense_Mutation_p.R83C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	175	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACCTATAGCGGGCAACACAG	0.552																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(523-525)Cgc>Tgc		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							159	130	140					12																	130934752		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130934752G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.523C>T	12.37:g.130934752G>A	ENSP00000261655:p.Arg175Cys					RIMBP2_uc001uim.3_Missense_Mutation_p.R83C	p.R175C	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	739	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	175			SH3 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.523C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459516	0.84317	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30182	1.54;1.54;1.54	4.02	4.02	0.46733	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.931;0.999	T	0.56153	-0.8026	10	0.62326	D	0.03	-27.6761	14.3555	0.66735	0.0:0.0:1.0:0.0	.	83;175	O15034-2;O15034	.;RIMB2_HUMAN	C	175;83;83;83	ENSP00000261655:R175C;ENSP00000440347:R83C;ENSP00000439159:R83C	ENSP00000261655:R175C	R	-	1	0	RIMBP2	129500705	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.221000	0.78016	1.783000	0.52377	0.555000	0.69702	CGC		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130934752	G	A	130934752	3	1	263	1	0	0	0	0	1	0	0	0	13363	1116	39	2	2691	2	RIMBP2	12	130934752	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	9465380	130934752	2917143	51	18797											
USPL1	10208	broad.mit.edu	37	chr13	31232152	31232152	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatgaaaagcttattcaAgaccaatttgtggacataag	16	12	8	5	0	1	2	1	1	0	1	1	3	1	3	1	1	1	2	1	1	7	5			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:31232152A>G	ENST00000255304.4	+	9	2280	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	646					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCTTATTCAAGACCAATTTG	0.343																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(1936-1938)caA>caG		Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.							69	68	68					13																	31232152		2203	4299	6502	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232152A>G	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1938A>G	13.37:g.31232152A>G						USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	p.Q646Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	8	2370	+		Lung SC(185;0.0257)|Breast(139;0.203)	646					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.1938A>G	CCDS9336.1																																																																																				0.343	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		G	31232152	A	G	31232152	2	3	263	1	0	0	0	0	0	0	0	1	17089	69	3	4		4	USPL1	13	31232152	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08		31232152	83937726	52	18798											
THSD1	55901	broad.mit.edu	37	chr13	52951899	52951899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccaaggtctggtttccTcaagggctgccccaaagtgt	8	10	10	13	0	2	0	1	0	1	0	4	0	4	0	5	3	1	2	5	3	3	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:52951899T>C	ENST00000258613.4	-	5	2384	c.2206A>G	c.(2206-2208)Agg>Ggg	p.R736G	THSD1_ENST00000349258.4_Missense_Mutation_p.R683G|THSD1_ENST00000544466.1_Missense_Mutation_p.R357G	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	736					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCTGGTTTCCTCAAGGGCTGC	0.552																																						uc001vgo.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2206-2208)Agg>Ggg		Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.							100	102	101					13																	52951899		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951899T>C	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2206A>G	13.37:g.52951899T>C	ENSP00000258613:p.Arg736Gly					THSD1_uc001vgp.3_Missense_Mutation_p.R683G|THSD1_uc010tgz.2_Missense_Mutation_p.R357G	p.R736G	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2751	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	736					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.2206A>G	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.253735	0.22965	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.32515	2.18;1.45;2.36	5.18	4.01	0.46588	.	0.314197	0.35124	N	0.003433	T	0.28732	0.0712	L	0.53249	1.67	0.30409	N	0.779225	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.23084	-1.0198	10	0.56958	D	0.05	-14.7539	10.1945	0.43045	0.0:0.0786:0.0:0.9214	.	683;736	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	G	683;357;736	ENSP00000340650:R683G;ENSP00000438512:R357G;ENSP00000258613:R736G	ENSP00000258613:R736G	R	-	1	2	THSD1	51849900	0.000000	0.05858	0.174000	0.22961	0.522000	0.34438	0.465000	0.22004	0.929000	0.37192	0.411000	0.27672	AGG		0.552	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			C	52951899	T	C	52951899	3	2	263	1	0	0	0	0	1	0	0	0	15874	1550	54	4	356	4	THSD1	13	52951899	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	21719747	52951899	62217979	53	18799											
EDDM3A	10876	broad.mit.edu	37	chr14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgagaaggggagcgaccGatatagaaatgcatatgtat	16	8	12	5	2	0	2	0	1	0	2	0	6	0	3	1	2	2	2	1	2	7	4	rs199609364		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr14:21216002G>A	ENST00000326842.2	+	2	390	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	88					sperm displacement (GO:0007321)	extracellular space (GO:0005615)		p.R88Q(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453																																						uc021rom.1																			1	Substitution - Missense(1)	p.R88Q(2)|p.R88R(1)	large_intestine(1)	breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(262-264)cGa>cAa		Homo sapiens epididymal protein 3A (EDDM3A), mRNA.							92	87	88					14																	21216002		2203	4300	6503	SO:0001583	missense	10876				sperm displacement	extracellular space		g.chr14:21216002G>A	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.263G>A	14.37:g.21216002G>A	ENSP00000315098:p.Arg88Gln					EDDM3A_uc001vyc.3_Missense_Mutation_p.R88Q	p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN			0	263	+			88					Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	c.263G>A	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414936	0.62511	.	.	ENSG00000181562	ENST00000326842	T	0.72942	-0.7	1.9	-1.58	0.08479	Ribonuclease A, domain (2);	0.326372	0.22269	N	0.062285	T	0.55689	0.1936	L	0.55481	1.735	0.09310	N	1	P	0.51449	0.945	B	0.39904	0.313	T	0.54437	-0.8294	10	0.62326	D	0.03	.	4.1624	0.10291	0.1685:0.4439:0.3876:0.0	.	88	Q14507	EP3A_HUMAN	Q	88	ENSP00000315098:R88Q	ENSP00000315098:R88Q	R	+	2	0	EDDM3A	20285842	0.001000	0.12720	0.000000	0.03702	0.556000	0.35491	0.142000	0.16096	-0.447000	0.07138	0.313000	0.20887	CGA		0.453	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			A	21216002	G	A	21216002	3	1	263	1	0	0	0	0	1	0	0	0	4909	1058	37	2	265	2	EDDM3A	14	21216002	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		21216002	86133538	54	18800											
MKRN3	7681	broad.mit.edu	37	chr15	23811039	23811039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccttcccgtctgtgagcCctccggggaatctgctgctc	4	10	12	15	2	2	1	0	1	2	0	5	3	4	3	4	3	3	2	4	3	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:23811039C>A	ENST00000314520.3	+	1	586	c.110C>A	c.(109-111)cCc>cAc	p.P37H	MKRN3_ENST00000564592.1_Missense_Mutation_p.P37H|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Missense_Mutation_p.P37H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	37					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCTGTGAGCCCTCCGGGGAA	0.687																																						uc001ywh.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(109-111)cCc>cAc		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							33	39	37					15																	23811039		2202	4299	6501	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811039C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.110C>A	15.37:g.23811039C>A	ENSP00000313881:p.Pro37His					MKRN3_uc001ywi.3_Missense_Mutation_p.P37H|MKRN3_uc010ayi.1_Missense_Mutation_p.P37H	p.P37H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	586	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	37						Missense_Mutation	SNP	ENST00000314520.3	37	c.110C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	11.48	1.651616	0.29336	.	.	ENSG00000179455	ENST00000314520	T	0.32515	1.45	3.22	-2.16	0.07080	.	0.395622	0.20338	U	0.094298	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P;P	0.52463	0.953;0.804	B;B	0.40982	0.345;0.187	T	0.28138	-1.0053	10	0.48119	T	0.1	.	4.0807	0.09924	0.0:0.4022:0.1797:0.4181	.	37;37	Q6NSB6;Q13064	.;MKRN3_HUMAN	H	37	ENSP00000313881:P37H	ENSP00000313881:P37H	P	+	2	0	MKRN3	21362132	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.907000	0.04067	-0.484000	0.06763	0.563000	0.77884	CCC		0.687	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23811039	C	A	23811039	3	1	263	1	0	0	0	0	1	0	0	0	9608	623	22	5	112	5	MKRN3	15	23811039	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		23811039	78720353	55	18801											
TMOD2	29767	broad.mit.edu	37	chr15	52075020	52075020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcagcaatgaccctgtgGccattgtgagtaaaattctt	10	12	9	10	1	1	2	0	2	1	0	2	2	1	2	2	1	1	3	2	1	3	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:52075020G>C	ENST00000249700.4	+	7	948	c.727G>C	c.(727-729)Gcc>Ccc	p.A243P	TMOD2_ENST00000539962.2_Missense_Mutation_p.A199P|TMOD2_ENST00000435126.2_Intron	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	243					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGACCCTGTGGCCATTGTGAG	0.398																																						uc002abk.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(727-729)Gcc>Ccc		Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.							95	100	98					15																	52075020		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52075020G>C	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.727G>C	15.37:g.52075020G>C	ENSP00000249700:p.Ala243Pro					TMOD2_uc002abl.4_Intron|TMOD2_uc010bfb.3_Missense_Mutation_p.A199P	p.A243P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	6	948	+			243					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.727G>C	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137953	0.94517	.	.	ENSG00000128872	ENST00000249700;ENST00000539962	T;T	0.24350	1.86;1.86	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79990	-0.1570	10	0.87932	D	0	-17.4147	19.4568	0.94895	0.0:0.0:1.0:0.0	.	243	Q9NZR1	TMOD2_HUMAN	P	243;199	ENSP00000249700:A243P;ENSP00000437743:A199P	ENSP00000249700:A243P	A	+	1	0	TMOD2	49862312	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.869000	0.92326	2.832000	0.97577	0.655000	0.94253	GCC		0.398	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			C	52075020	G	C	52075020	3	2	263	1	0	0	0	0	1	0	0	0	16231	1203	42	5	749	5	TMOD2	15	52075020	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	28263981	52075020	50456372	56	18802											
FSD2	123722	broad.mit.edu	37	chr15	83455346	83455346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatttgtacatgttttTgtgaatttcatcctatccaa	10	19	4	8	0	1	1	1	1	0	0	4	1	4	1	3	0	1	2	3	0	5	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:83455346T>C	ENST00000334574.8	-	3	833	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	FSD2_ENST00000541889.1_Missense_Mutation_p.K218E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	218										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TACATGTTTTTGTGAATTTCA	0.363																																						uc002bjd.2																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(652-654)Aaa>Gaa		Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.							130	115	119					15																	83455346		1845	4102	5947	SO:0001583	missense	123722							g.chr15:83455346T>C	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.652A>G	15.37:g.83455346T>C	ENSP00000335651:p.Lys218Glu					FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	p.K218E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			2	819	-			218					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.652A>G	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983195	0.53827	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.20598	2.06;2.06	5.63	5.63	0.86233	.	0.168219	0.51477	D	0.000087	T	0.30510	0.0767	L	0.39633	1.23	0.29377	N	0.863607	B;D	0.69078	0.264;0.997	B;P	0.58970	0.171;0.849	T	0.10428	-1.0630	10	0.13470	T	0.59	-28.9091	15.0511	0.71872	0.0:0.0:0.0:1.0	.	218;218	B7ZM02;A1L4K1	.;FSD2_HUMAN	E	218	ENSP00000335651:K218E;ENSP00000444078:K218E	ENSP00000335651:K218E	K	-	1	0	FSD2	81252400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.752000	0.62176	2.145000	0.66743	0.533000	0.62120	AAA		0.363	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		C	83455346	T	C	83455346	3	2	263	1	0	0	0	0	1	0	0	0	6071	1821	63	4	1641	4	FSD2	15	83455346	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	31380326	83455346	19076046	57	18803											
PDE8A	5151	broad.mit.edu	37	chr15	85664158	85664158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattttgtacaatgacaCtgctgtgctggagagccacc	9	10	11	11	0	0	2	0	1	0	1	0	3	0	2	3	2	4	3	3	2	2	3	rs144501404	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:85664158C>G	ENST00000310298.4	+	19	2117	c.1865C>G	c.(1864-1866)aCt>aGt	p.T622S	PDE8A_ENST00000557957.1_Missense_Mutation_p.T550S|PDE8A_ENST00000339708.5_Missense_Mutation_p.T576S|PDE8A_ENST00000394553.1_Missense_Mutation_p.T622S			O60658	PDE8A_HUMAN	phosphodiesterase 8A	622	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TACAATGACACTGCTGTGCTG	0.483																																						uc002blh.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1864-1866)aCt>aGt		Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.							128	103	111					15																	85664158		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85664158C>G	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1865C>G	15.37:g.85664158C>G	ENSP00000311453:p.Thr622Ser					PDE8A_uc021stv.1_Missense_Mutation_p.T550S|PDE8A_uc002bli.3_Missense_Mutation_p.T576S|PDE8A_uc010bnc.3_Missense_Mutation_p.T375S|PDE8A_uc010bnd.3_Missense_Mutation_p.T375S|PDE8A_uc002blj.3_Missense_Mutation_p.T242S|PDE8A_uc002blk.3_Missense_Mutation_p.T242S|PDE8A_uc002bll.3_5'UTR	p.T622S	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		17	2054	+	Colorectal(223;0.227)		622			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1865C>G	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	5.230	0.227890	0.09916	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.80566	-1.39;-1.39;-1.39	5.44	-6.82	0.01698	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.544756	0.20978	N	0.082264	T	0.61135	0.2323	N	0.21373	0.66	0.22787	N	0.998734	B;B	0.23806	0.021;0.091	B;B	0.23150	0.028;0.044	T	0.38265	-0.9669	10	0.40728	T	0.16	.	10.0861	0.42419	0.0:0.3022:0.0984:0.5994	.	576;622	O60658-2;O60658	.;PDE8A_HUMAN	S	622;622;576	ENSP00000311453:T622S;ENSP00000378056:T622S;ENSP00000340679:T576S	ENSP00000311453:T622S	T	+	2	0	PDE8A	83465162	0.079000	0.21365	0.000000	0.03702	0.031000	0.12232	0.573000	0.23699	-1.895000	0.01104	-1.105000	0.02106	ACT		0.483	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		G	85664158	C	G	85664158	3	3	263	1	0	0	0	0	1	0	0	0	11653	565	20	5	1935	5	PDE8A	15	85664158	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	2208812	85664158	16867234	58	18804											
PCSK6	5046	broad.mit.edu	37	chr15	101853660	101853660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggcacacacttccagtCgtggaagtggaagtttttcg	8	11	13	9	2	0	0	0	0	0	0	3	2	1	2	1	4	0	3	1	4	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:101853660C>T	ENST00000348070.1	-	21	2616	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.D860N	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	874	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTTCCAGTCGTGGAAGTGG	0.567																																						uc002bxa.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2617-2619)Gac>Aac		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							68	72	71					15																	101853660		2016	4187	6203	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101853660C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2617G>A	15.37:g.101853660C>T	ENSP00000305056:p.Asp873Asn					PCSK6_uc010bpd.3_Missense_Mutation_p.D670N|PCSK6_uc002bwy.3_Missense_Mutation_p.D873N|PCSK6_uc010bpe.3_Missense_Mutation_p.D857N|PCSK6_uc002bxb.2_Missense_Mutation_p.D860N	p.D873N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	2931	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		874			CRM (Cys-rich motif).		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.2617G>A		.	.	.	.	.	.	.	.	.	.	C	16.34	3.096925	0.56075	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.61980	0.06;0.06	5.77	5.77	0.91146	Growth factor, receptor (1);	0.298399	0.36234	N	0.002709	T	0.57961	0.2089	N	0.11724	0.165	0.80722	D	1	P;D;D;P;B	0.67145	0.923;0.996;0.991;0.453;0.205	B;P;P;B;B	0.55871	0.165;0.642;0.786;0.103;0.033	T	0.55490	-0.8133	10	0.21540	T	0.41	-58.7307	17.4774	0.87662	0.0:1.0:0.0:0.0	.	874;705;861;874;860	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	N	873;860;704	ENSP00000305056:D873N;ENSP00000351193:D860N	ENSP00000305056:D873N	D	-	1	0	PCSK6	99671183	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.147000	0.58078	2.726000	0.93360	0.655000	0.94253	GAC		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		T	101853660	C	T	101853660	3	4	263	1	0	0	0	0	1	0	0	0	11604	884	31	2	530	2	PCSK6	15	101853660	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	16189502	101853660	677732	59	18805											
SRCAP	10847	broad.mit.edu	37	chr16	30748891	30748894	+	Frame_Shift_Del	DEL	TCAT	TCAT	-																															gcctgtacccctccaccagcTcatacaccgcctccagccca																										TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:30748891_30748894delTCAT	ENST00000262518.4	+	34	7915_7918	c.7530_7533delTCAT	c.(7528-7533)gctcatfs	p.AH2510fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.AH2448fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.AH2352fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2510	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ctccaccagctcatacaccgcctc	0.564																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7528-7533)gctcatfs		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748891_30748894delTCAT	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7530_7533delTCAT	16.37:g.30748891_30748894delTCAT	ENSP00000262518:p.Ala2510fs					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	p.A2510fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7915_7918	+			2510			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.7530_7533delTCAT	CCDS10689.2																																																																																				0.564	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		-	30748894	TCAT	-	30748891	7	5	263	1	0	1	0	1	0	0	0	0	15134	1538	54	0	7656	0	SRCAP	16	30748891	Frame_Shift_Del	DEL	TCAT	TCGA-76-4932-01A-01D-1486-08		30748891	59605862	60	18806											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461484	76461484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcgaatcgaagtgttcGgatgtgcatacagtaagtgt	12	11	13	5	3	0	0	0	0	0	0	2	4	0	1	0	1	3	3	0	1	5	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:76461484G>A	ENST00000476707.1	+	3	674	c.535G>A	c.(535-537)Gga>Aga	p.G179R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G175R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G151R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G175R			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	176					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAAGTGTTCGGATGTGCATA	0.398																																						uc002fex.1																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(535-537)Gga>Aga		Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.							95	87	90					16																	76461484		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461484G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.535G>A	16.37:g.76461484G>A	ENSP00000417628:p.Gly179Arg					CNTNAP4_uc002feu.1_Missense_Mutation_p.G175R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G88R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G151R|CNTNAP4_uc002few.2_Missense_Mutation_p.G151R	p.G179R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			2	674	+			176					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.535G>A		.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57	4.98	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.37761	N	0.001952	D	0.99426	0.9797	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.997	D	0.98829	1.0750	9	0.87932	D	0	.	18.4254	0.90607	0.0:0.0:1.0:0.0	.	151;179;151;176	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	R	175;175;151;179	ENSP00000306893:G175R;ENSP00000439733:G175R;ENSP00000418741:G151R;ENSP00000417628:G179R	ENSP00000306893:G175R	G	+	1	0	CNTNAP4	75018985	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.514000	0.98013	2.765000	0.95021	0.655000	0.94253	GGA		0.398	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76461484	G	A	76461484	3	1	263	1	0	0	0	0	1	0	0	0	3649	1117	39	2	553	2	CNTNAP4	16	76461484	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	45712593	76461484	13893269	61	18807											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttcttgagatactggCggctgcaggaagaccatgaa	12	9	13	7	1	1	3	0	2	1	2	1	6	1	5	1	4	2	2	1	4	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:77389861C>T	ENST00000282849.5	-	9	1854	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	479	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R479H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488																																						uc002ffc.4																			1	Substitution - Missense(1)	p.R479H(2)	ovary(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1435-1437)cGc>cAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							106	95	99					16																	77389861		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389861C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1436G>A	16.37:g.77389861C>T	ENSP00000282849:p.Arg479His					ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	p.R479H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			8	1855	-			479			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1436G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044901	0.75732	.	.	ENSG00000140873	ENST00000282849	T	0.08720	3.06	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.89163	3.01	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.36212	-0.9757	10	0.87932	D	0	.	13.4679	0.61266	0.0:0.9246:0.0:0.0754	.	479;479	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	479	ENSP00000282849:R479H	ENSP00000282849:R479H	R	-	2	0	ADAMTS18	75947362	1.000000	0.71417	0.910000	0.35882	0.335000	0.28730	5.859000	0.69539	1.561000	0.49584	0.655000	0.94253	CGC		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77389861	C	T	77389861	3	4	263	1	0	0	0	0	1	0	0	0	263	768	27	1	2289	1	ADAMTS18	16	77389861	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	928377	77389861	12964892	62	18808											
KRT38	8687	broad.mit.edu	37	chr17	39593695	39593695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggtggtgctggctccaCaggtgggcccacaggtggtg	4	9	17	11	1	0	0	0	0	0	0	2	0	2	0	3	7	1	2	3	7	0	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr17:39593695C>T	ENST00000246646.3	-	7	1339	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	447	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGGCTCCACAGGTGGGCCC	0.612																																						uc002hwq.1																			0		p.C447S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1339-1341)tGt>tAt		Homo sapiens keratin 38 (KRT38), mRNA.							21	21	21					17																	39593695		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39593695C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1340G>A	17.37:g.39593695C>T	ENSP00000246646:p.Cys447Tyr						p.C447Y	NM_006771	NP_006762	O76015	KRT38_HUMAN			6	1763	-		Breast(137;0.000496)	447			Tail.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.1340G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	8.276	0.814410	0.16607	.	.	ENSG00000171360	ENST00000246646	D	0.82167	-1.58	2.25	1.26	0.21427	.	0.263218	0.27147	N	0.020720	T	0.62109	0.2401	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.30716	0.119	T	0.56117	-0.8032	10	0.56958	D	0.05	.	4.9632	0.14078	0.0:0.8211:0.0:0.1789	.	447	O76015	KRT38_HUMAN	Y	447	ENSP00000246646:C447Y	ENSP00000246646:C447Y	C	-	2	0	KRT38	36847221	0.021000	0.18746	0.028000	0.17463	0.018000	0.09664	0.370000	0.20433	0.526000	0.28541	0.555000	0.69702	TGT		0.612	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		T	39593695	C	T	39593695	3	4	263	1	0	0	0	0	1	0	0	0	8475	478	17	3	34	3	KRT38	17	39593695	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		39593695	41601515	63	18809											
DNM2	1785	broad.mit.edu	37	chr19	10887808	10887808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggcctacggaccatcGgtgtcatcaccaagcttgac	9	10	9	13	2	3	1	3	1	0	0	4	2	3	2	3	3	2	1	3	3	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:10887808G>A	ENST00000355667.6	+	5	684	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	DNM2_ENST00000408974.4_Missense_Mutation_p.G202S|DNM2_ENST00000585892.1_Missense_Mutation_p.G202S|DNM2_ENST00000314646.5_Missense_Mutation_p.G202S|DNM2_ENST00000389253.4_Missense_Mutation_p.G202S|DNM2_ENST00000359692.6_Missense_Mutation_p.G202S|DNM2_ENST00000591819.1_3'UTR	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	202	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACGGACCATCGGTGTCATCAC	0.597			"F, N, Splice, Mis, O"		ETP ALL																																	uc002mpt.2				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(604-606)Ggt>Agt		Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.							102	88	93					19																	10887808		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10887808G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.604G>A	19.37:g.10887808G>A	ENSP00000347890:p.Gly202Ser					DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.G202S|DNM2_uc010dxl.2_Missense_Mutation_p.G202S|DNM2_uc002mpu.2_Missense_Mutation_p.G202S|DNM2_uc002mpv.2_Missense_Mutation_p.G202S	p.G202S	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		4	794	+			202					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.604G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364356	0.95877	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	4.94	4.94	0.65067	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.99312	4.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.98650	1.0679	10	0.87932	D	0	-15.8066	16.9491	0.86239	0.0:0.0:1.0:0.0	.	202;202;202;202	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	S	191;202;202;202;202;202	ENSP00000386192:G202S;ENSP00000347890:G202S;ENSP00000352721:G202S;ENSP00000373905:G202S;ENSP00000313164:G202S	ENSP00000313164:G202S	G	+	1	0	DNM2	10748808	1.000000	0.71417	0.984000	0.44739	0.957000	0.61999	9.756000	0.98918	2.286000	0.76751	0.561000	0.74099	GGT		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		A	10887808	G	A	10887808	3	1	263	1	0	0	0	0	1	0	0	0	4672	1116	39	2	622	2	DNM2	19	10887808	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		10887808	48241175	64	18810											
CILP2	148113	broad.mit.edu	37	chr19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcgaggtgccggcGtgtaccacgaggtcaaggcc	7	8	14	12	4	1	1	1	1	0	0	3	3	2	1	4	4	2	1	4	4	2	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:19654993G>A	ENST00000291495.5	+	8	1724	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CILP2_ENST00000586018.1_Missense_Mutation_p.V553M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	547						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1657-1659)Gtg>Atg		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							64	68	67					19																	19654993		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654993G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1639G>A	19.37:g.19654993G>A	ENSP00000291495:p.Val547Met					CILP2_uc002nmv.4_Missense_Mutation_p.V547M	p.V553M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	1742	+			547					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1657G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634166	0.47049	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.078660	0.52532	D	0.000075	T	0.63988	0.2558	M	0.64404	1.975	0.41635	D	0.989045	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.68743	-0.5328	10	0.72032	D	0.01	-21.0925	13.1452	0.59456	0.0:0.0:1.0:0.0	.	547;547	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	547	ENSP00000291495:V547M	ENSP00000291495:V547M	V	+	1	0	CILP2	19515993	1.000000	0.71417	0.830000	0.32933	0.769000	0.43574	4.248000	0.58760	1.662000	0.50781	0.430000	0.28490	GTG		0.622	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19654993	G	A	19654993	3	1	263	1	0	0	0	0	1	0	0	0	3430	1145	40	1	1669	1	CILP2	19	19654993	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	8767185	19654993	39473990	65	18811											
ZNF701	55762	broad.mit.edu	37	chr19	53085986	53085986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagtggcaaagcctttaAtggtagctcactcttaaaaa	14	11	9	7	0	2	1	1	1	1	1	2	2	2	1	1	2	2	3	1	2	6	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:53085986A>G	ENST00000540331.1	+	5	1097	c.872A>G	c.(871-873)aAt>aGt	p.N291S	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.N225S|ZNF701_ENST00000301093.2_Missense_Mutation_p.N291S	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAGCCTTTAATGGTAGCTCA	0.368																																					NSCLC(89;451 1475 9611 20673 52284)	uc010ydn.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(871-873)aAt>aGt		Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.							62	67	65					19																	53085986		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085986A>G	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.872A>G	19.37:g.53085986A>G	ENSP00000444339:p.Asn291Ser					ZNF701_uc002pzs.2_Missense_Mutation_p.N225S|ZNF701_uc021uyw.1_Missense_Mutation_p.N291S	p.N291S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	935	+			225					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.872A>G	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	A	3.256	-0.152168	0.06585	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.13420	2.59;2.59;2.59	1.75	-1.96	0.07525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	N	0.05467	-0.045	0.09310	N	1	P;D	0.63880	0.835;0.993	P;D	0.68192	0.495;0.956	T	0.26052	-1.0114	9	0.15952	T	0.53	.	6.5431	0.22390	0.5092:0.0:0.4908:0.0	.	291;225	F5GZM6;Q9NV72	.;ZN701_HUMAN	S	225;291;291	ENSP00000375662:N225S;ENSP00000301093:N291S;ENSP00000444339:N291S	ENSP00000301093:N291S	N	+	2	0	ZNF701	57777798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.332000	0.00509	-0.460000	0.07003	-0.475000	0.04921	AAT		0.368	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		G	53085986	A	G	53085986	3	3	263	1	0	0	0	0	1	0	0	0	18102	101	4	4	886	4	ZNF701	19	53085986	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	33430993	53085986	6042997	66	18812											
LILRB2	10288	broad.mit.edu	37	chr19	54782295	54782295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggcatcagctgctccCgccttggtcagaaggaaagt	9	8	14	10	1	2	1	2	0	0	1	3	2	3	2	2	4	2	3	2	4	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:54782295C>T	ENST00000391749.4	-	7	1348	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	LILRB2_ENST00000391746.1_Silent_p.A359A|LILRB2_ENST00000434421.1_Silent_p.A243A|LILRB2_ENST00000314446.5_Silent_p.A359A|LILRB2_ENST00000391748.1_Silent_p.A359A|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	359	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGCTCCCGCCTTGGTCA	0.572																																						uc002qfb.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1075-1077)gcG>gcA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.							133	133	133					19																	54782295		2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782295C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1077G>A	19.37:g.54782295C>T						LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A359A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A359A|LILRB2_uc010yet.2_Silent_p.A243A|LILRB2_uc010yeu.1_Non-coding_Transcript	p.A359A	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1343	-	Ovarian(34;0.19)		359			Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1077G>A	CCDS12886.1																																																																																				0.572	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54782295	C	T	54782295	2	4	263	1	0	0	0	0	0	0	0	1	8791	639	23	2		2	LILRB2	19	54782295	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	1696309	54782295	4346688	67	18813											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601319	58601319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaccacccagggccGgaccttatcaggcaggatgc	8	6	12	15	1	1	0	1	0	0	0	1	2	1	2	5	4	2	1	5	4	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:58601319G>A	ENST00000240727.6	-	2	715	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R162W|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R106W	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACCCAGGGCCGGACCTTATCA	0.647																																						uc010yht.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(484-486)Cgg>Tgg		Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.							68	69	69					19																	58601319		2203	4300	6503	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601319G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.316C>T	19.37:g.58601319G>A	ENSP00000240727:p.Arg106Trp					ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qri.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	p.R162W	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	1	514	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	106					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.484C>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190787	0.58017	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	T	0.05199	3.48	3.53	3.53	0.40419	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.29916	N	0.010869	T	0.22859	0.0552	M	0.79123	2.44	0.35588	D	0.806802	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.99;0.986;0.997;0.993	T	0.19679	-1.0298	10	0.87932	D	0	-16.6412	10.7628	0.46274	0.0:0.0:1.0:0.0	.	162;176;106;106	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	W	162;106	ENSP00000240727:R106W	ENSP00000240727:R106W	R	-	1	2	ZSCAN18	63293131	0.003000	0.15002	0.038000	0.18304	0.928000	0.56348	0.943000	0.29030	2.010000	0.58986	0.561000	0.74099	CGG		0.647	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		A	58601319	G	A	58601319	3	1	263	1	0	0	0	0	1	0	0	0	18227	1115	39	2	1240	2	ZSCAN18	19	58601319	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	3819024	58601319	527664	68	18814											
MATN4	8785	broad.mit.edu	37	chr20	43933173	43933173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactggattgccagtcccGtcatggtgccttgcgccaga	6	10	12	13	3	1	1	1	0	0	1	2	2	2	2	4	2	4	1	4	2	1	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:43933173G>A	ENST00000372754.1	-	2	346	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MATN4_ENST00000537548.1_Missense_Mutation_p.T113M|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.T113M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.T113M|MATN4_ENST00000360607.6_Missense_Mutation_p.T113M|MATN4_ENST00000353917.5_Missense_Mutation_p.T113M|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	113	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCAGTCCCGTCATGGTGCC	0.667																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(337-339)aCg>aTg		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							20	17	18					20																	43933173		2199	4295	6494	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933173G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.338C>T	20.37:g.43933173G>A	ENSP00000361840:p.Thr113Met					MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	p.T113M	NM_003833	NP_003824	O95460	MATN4_HUMAN			2	525	-		Myeloproliferative disorder(115;0.0122)	113			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.338C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.368949	0.82463	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	4.81	3.86	0.44501	.	0.174005	0.28247	N	0.016058	D	0.95156	0.8430	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	0.98;1.0;1.0	B;D;D	0.97110	0.392;1.0;0.999	D	0.95800	0.8832	10	0.87932	D	0	.	12.2207	0.54433	0.0825:0.0:0.9175:0.0	.	113;113;113	A6NNA4;O95460-4;O95460-2	.;.;.	M	113	ENSP00000361840:T113M;ENSP00000361842:T113M;ENSP00000243983:T113M;ENSP00000353819:T113M;ENSP00000343164:T113M;ENSP00000440328:T113M	ENSP00000255132:T113M	T	-	2	0	MATN4	43366587	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	9.578000	0.98200	1.256000	0.44068	0.462000	0.41574	ACG		0.667	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			A	43933173	G	A	43933173	3	1	263	1	0	0	0	0	1	0	0	0	9336	1145	40	1	1439	1	MATN4	20	43933173	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		43933173	19092347	69	18815											
MC3R	4159	broad.mit.edu	37	chr20	54824649	54824649	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaccattctcctgggcgtGttcatcttctgctgggcccc	4	13	9	15	1	5	0	2	0	3	0	6	0	5	0	4	2	1	2	4	2	0	3	rs139424256		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:54824649G>C	ENST00000243911.2	+	1	862	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	250					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTGGGCGTGTTCATCTTCT	0.597																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(748-750)gtG>gtC		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							267	178	208					20																	54824649		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824649G>C		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.750G>C	20.37:g.54824649G>C							p.V250V	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	862	+			287					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.750G>C	CCDS13449.2																																																																																				0.597	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			C	54824649	G	C	54824649	2	2	263	1	0	0	0	0	0	0	0	1	9365	1364	48	5		5	MC3R	20	54824649	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	10891476	54824649	8200871	70	18816											
C20orf43	51507	broad.mit.edu	37	chr20	55093243	55093243	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaggcctacaagtccctCtttaccactcacagctccgc	8	9	7	17	2	2	0	1	0	1	0	5	1	4	1	4	2	3	1	4	2	3	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:55093243C>G	ENST00000023939.4	+	9	950	c.843C>G	c.(841-843)ctC>ctG	p.L281L	FAM209A_ENST00000481560.1_3'UTR|RTFDC1_ENST00000395881.3_3'UTR|RTFDC1_ENST00000357348.5_Silent_p.L311L|GCNT7_ENST00000243913.4_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	281																	ACAAGTCCCTCTTTACCACTC	0.577																																						uc010zzf.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10						c.(931-933)ctC>ctG		Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.							76	80	78					20																	55093243		2203	4300	6503	SO:0001819	synonymous_variant	51507							g.chr20:55093243C>G	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 43"	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.843C>G	20.37:g.55093243C>G						C20orf43_uc002xxt.2_Silent_p.L281L|C20orf43_uc002xxu.2_Silent_p.L280L|GCNT7_uc010zzg.1_Intron	p.L311L	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Colorectal(105;0.202)		9	1040	+			281					E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Silent	SNP	ENST00000023939.4	37	c.933C>G	CCDS13453.1																																																																																				0.577	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407		G	55093243	C	G	55093243	2	3	263	1	0	0	0	0	0	0	0	1	2112	900	32	5		5	C20orf43	20	55093243	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	268594	55093243	7932277	71	18817											
IFNAR2	3455	broad.mit.edu	37	chr21	34625094	34625094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcaagcagtaataaagtCtcccttaaaatgcaccctcc	14	9	6	12	0	1	1	0	1	1	0	3	1	2	1	3	0	3	4	3	0	6	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:34625094C>T	ENST00000342136.4	+	7	994	c.668C>T	c.(667-669)tCt>tTt	p.S223F	IFNAR2_ENST00000382264.3_Missense_Mutation_p.S223F|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S223F|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S151F|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S223F|AP000295.9_ENST00000433395.2_Missense_Mutation_p.L131F|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S223F			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	223					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	GTAATAAAGTCTCCCTTAAAA	0.373																																						uc002yrd.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(667-669)tCt>tTt		Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						119	105	110					21																	34625094		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34625094C>T		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.668C>T	21.37:g.34625094C>T	ENSP00000343957:p.Ser223Phe					IFNAR2_uc002yrb.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrc.3_Missense_Mutation_p.S223F|IFNAR2_uc002yre.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrf.3_Missense_Mutation_p.S223F|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Missense_Mutation_p.S73F	p.S223F	NM_207585	NP_997468	P48551	INAR2_HUMAN			6	996	+			223					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.668C>T	CCDS13621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.696402|2.696402	0.48202|0.48202	.|.	.|.	ENSG00000249624|ENSG00000159110	ENST00000433395|ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073	.|T;T;T;T;T;T;T	.|0.77489	.|-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	.|0.182425	.|0.49916	.|D	.|0.000131	D|D	0.84660|0.84660	0.5521|0.5521	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	0.999995|0.999995	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	T|T	0.75169|0.75169	-0.3412|-0.3412	5|9	.|.	.|.	.|.	.|.	12.1737|12.1737	0.54173|0.54173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|223;223;223	.|P48551-3;P48551;P48551-2	.|.;INAR2_HUMAN;.	F|F	131|223;223;223;223;223;151;151	.|ENSP00000371699:S223F;ENSP00000384309:S223F;ENSP00000371676:S223F;ENSP00000343957:S223F;ENSP00000343289:S223F;ENSP00000413160:S151F;ENSP00000403569:S151F	.|.	L|S	+|+	1|2	0|0	AP000295.9|IFNAR2	33546964|33546964	0.012000|0.012000	0.17670|0.17670	0.008000|0.008000	0.14137|0.14137	0.022000|0.022000	0.10575|0.10575	2.947000|2.947000	0.49058|0.49058	2.582000|2.582000	0.87167|0.87167	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.373	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			T	34625094	C	T	34625094	3	4	263	1	0	0	0	0	1	0	0	0	7545	913	32	3	690	3	IFNAR2	21	34625094	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		34625094	13504801	72	18818											
TRPM2	7226	broad.mit.edu	37	chr21	45859043	45859043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacttgctgaagtgcGgcatggaggtattcctggcc	9	11	13	8	1	0	2	0	2	0	0	1	3	1	3	2	4	3	3	2	4	4	4	rs142254503	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45859043G>A	ENST00000397928.1	+	30	4706	c.4261G>A	c.(4261-4263)Ggc>Agc	p.G1421S	snoZ6_ENST00000581669.1_RNA|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGT	0.602													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18167	0		0	False		,,,				2504	0					uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(4411-4413)Ggc>Agc		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.		G	SER/GLY	3,4403	6.2+/-15.9	0,3,2200	141	89	107		4261	3.5	0	21	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	56	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	1421/1504	45859043	3,13003	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45859043G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4261G>A	21.37:g.45859043G>A	ENSP00000381023:p.Gly1421Ser					TRPM2_uc002zet.1_Missense_Mutation_p.G1421S|TRPM2_uc002zeu.1_Missense_Mutation_p.G1421S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G1421S|TRPM2_uc002zex.1_Missense_Mutation_p.G1207S|TRPM2_uc002zey.1_Missense_Mutation_p.G900S|TRPM2_uc011aff.1_Missense_Mutation_p.G102S	p.G1471S	NM_003307	NP_003298	O94759	TRPM2_HUMAN			30	4511	+			1421			Nudix hydrolase.		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4411G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213433	0.58452	6.81E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.57107	0.58;0.58;0.55;0.42	4.33	3.45	0.39498	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000001	T	0.66973	0.2844	M	0.69463	2.115	0.23909	N	0.996491	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.57522	-0.7797	10	0.62326	D	0.03	-24.2278	9.7195	0.40295	0.1018:0.0:0.8981:0.0	.	102;1471;1207;1421	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	S	1421;1421;1367;1471;165	ENSP00000300482:G1421S;ENSP00000381023:G1421S;ENSP00000300481:G1367S;ENSP00000381026:G1471S	ENSP00000300481:G1367S	G	+	1	0	TRPM2	44683471	0.990000	0.36364	0.017000	0.16124	0.002000	0.02628	5.074000	0.64401	0.960000	0.38005	-0.373000	0.07131	GGC		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45859043	G	A	45859043	3	1	263	1	0	0	0	0	1	0	0	0	16583	1116	39	2	4379	2	TRPM2	21	45859043	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	11233949	45859043	2270852	73	18819											
C21orf29	54084	broad.mit.edu	37	chr21	45948411	45948411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaaccagaactgggcGtcttccacctcggtacacgg	10	7	10	14	3	2	1	1	0	1	1	4	1	3	1	3	3	3	2	3	3	3	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45948411G>A	ENST00000323084.4	-	6	911	c.846C>T	c.(844-846)gaC>gaT	p.D282D	TSPEAR_ENST00000397916.1_Silent_p.D214D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	282					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGAACTGGGCGTCTTCCACCT	0.607																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(844-846)gaC>gaT		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.							142	118	126					21																	45948411		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948411G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.846C>T	21.37:g.45948411G>A						TSPEAR_uc010gpv.1_Silent_p.D214D	p.D282D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			5	912	-			282						Silent	SNP	ENST00000323084.4	37	c.846C>T	CCDS13712.1																																																																																				0.607	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45948411	G	A	45948411	2	1	263	1	0	0	0	0	0	0	0	1	2124	1136	40	1		1	C21orf29	21	45948411	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	89368	45948411	2181484	74	18820											
ZNF280B	140883	broad.mit.edu	37	chr22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcacacatagggcatttCgccaggcttatgatggtcct	8	11	11	11	1	0	1	0	1	0	0	2	1	1	1	2	4	0	3	2	4	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																						uc002zwc.1																			0		p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1198-1200)Gaa>Aaa		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							117	111	113					22																	22842526		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842526C>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	400						Missense_Mutation	SNP	ENST00000406426.1	37	c.1198G>A	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		T	22842526	C	T	22842526	3	4	263	1	0	0	0	0	1	0	0	0	17812	893	31	2	437	2	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		22842526	28462040	75	18821											
MOV10L1	54456	broad.mit.edu	37	chr22	50596602	50596602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagtcaggtgtctgccagCgacattggcgtcatcacgcc	7	9	11	14	3	4	0	3	0	1	0	5	1	5	0	3	2	2	0	3	2	0	1	rs371398149		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:50596602C>T	ENST00000262794.5	+	23	3266	c.3183C>T	c.(3181-3183)agC>agT	p.S1061S	MOV10L1_ENST00000545383.1_Silent_p.S1061S|MOV10L1_ENST00000395858.3_Silent_p.S1061S|MOV10L1_ENST00000395852.1_Silent_p.S188S|MOV10L1_ENST00000540615.1_Silent_p.S1041S|MOV10L1_ENST00000395843.1_Silent_p.S104S|MOV10L1_ENST00000354853.2_Silent_p.S104S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1061					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCTGCCAGCGACATTGGCG	0.652																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3181-3183)agC>agT		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.		C	,,,	0,4406		0,0,2203	74	64	68		3183,3123,564,3183	-2	0	22		68	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1061/1166,1041/1166,188/339,1061/1212	50596602	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50596602C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3183C>T	22.37:g.50596602C>T						MOV10L1_uc003bjk.4_Silent_p.S1061S|MOV10L1_uc011arp.2_Silent_p.S1041S|MOV10L1_uc003bjl.3_Silent_p.S188S|MOV10L1_uc003bjm.1_Silent_p.S104S	p.S1061S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3266	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1061					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.3183C>T	CCDS14084.1																																																																																				0.652	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50596602	C	T	50596602	2	4	263	1	0	0	0	0	0	0	0	1	9719	767	27	1		1	MOV10L1	22	50596602	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	27754076	50596602	707964	76	18822											
GLRA2	2742	broad.mit.edu	37	chrX	14599498	14599498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaaattgctacggatttCgaaaaatggcaaagtgctct	15	10	8	8	2	1	0	0	0	1	0	2	2	1	1	0	2	4	3	0	2	6	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:14599498C>T	ENST00000218075.4	+	4	994	c.464C>T	c.(463-465)tCg>tTg	p.S155L	GLRA2_ENST00000355020.4_Missense_Mutation_p.S155L|GLRA2_ENST00000443437.2_Missense_Mutation_p.S66L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	155					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S155L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CTACGGATTTCGAAAAATGGC	0.453																																						uc010neq.3																			2	Substitution - Missense(2)	p.S155L(3)	kidney(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(463-465)tCg>tTg		Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	Ethanol(DB00898)|Glycine(DB00145)						111	93	99					X																	14599498		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14599498C>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.464C>T	X.37:g.14599498C>T	ENSP00000218075:p.Ser155Leu					GLRA2_uc004cwe.4_Missense_Mutation_p.S155L|GLRA2_uc011mio.2_Missense_Mutation_p.S66L|GLRA2_uc010nep.3_Missense_Mutation_p.S155L|GLRA2_uc011mip.2_Missense_Mutation_p.S133L	p.S155L	NM_002063	NP_002054	P23416	GLRA2_HUMAN			3	1224	+	Hepatocellular(33;0.128)		155					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.464C>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367246	0.61513	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.067670	0.64402	D	0.000007	T	0.73353	0.3576	L	0.56769	1.78	0.47441	D	0.99942	B;B;B	0.30104	0.038;0.011;0.268	B;B;B	0.19946	0.027;0.007;0.024	T	0.69091	-0.5237	10	0.18276	T	0.48	.	11.8497	0.52405	0.0:0.9182:0.0:0.0818	.	139;155;155	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	L	66;155;155;139	ENSP00000387756:S66L;ENSP00000218075:S155L;ENSP00000347123:S155L;ENSP00000391606:S139L	ENSP00000218075:S155L	S	+	2	0	GLRA2	14509419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	2.278000	0.76064	0.600000	0.82982	TCG		0.453	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			T	14599498	C	T	14599498	3	4	263	1	0	0	0	0	1	0	0	0	6455	893	31	2	550	2	GLRA2	23	14599498	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		14599498	140671062	77	18823											
LANCL3	347404	broad.mit.edu	37	chrX	37431325	37431325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggggggctttatggcGgcgtggccggagtggcgtat	4	8	21	8	4	0	0	0	0	0	0	0	1	0	1	2	8	0	2	2	8	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:37431325G>A	ENST00000378619.3	+	1	421	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Missense_Mutation_p.G68S	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	68							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GCTTTATGGCGGCGTGGCCGG	0.711																																						uc011mkd.2																			0				lung(4)|pancreas(1)	5						c.(202-204)Ggc>Agc		Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.							5	6	5					X																	37431325		2056	3996	6052	SO:0001583	missense	347404						catalytic activity	g.chrX:37431325G>A	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.202G>A	X.37:g.37431325G>A	ENSP00000367882:p.Gly68Ser					LANCL3_uc004ddp.2_Missense_Mutation_p.G68S	p.G68S	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN			0	504	+			68					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.202G>A	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948564	0.92593	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	D;D	0.91631	-2.88;-2.88	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97967	1.0341	10	0.87932	D	0	-14.5673	16.402	0.83643	0.0:0.0:1.0:0.0	.	68;68	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	S	68	ENSP00000367885:G68S;ENSP00000367882:G68S	ENSP00000367882:G68S	G	+	1	0	LANCL3	37316244	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.371000	0.73119	1.880000	0.54463	0.476000	0.43555	GGC		0.711	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		A	37431325	G	A	37431325	3	1	263	1	0	0	0	0	1	0	0	0	8622	1116	39	2	204	2	LANCL3	23	37431325	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	22831827	37431325	117839235	78	18824											
MORC4	79710	broad.mit.edu	37	chrX	106221358	106221358	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattttatgagtcggttgttAtgatacatcattattccaaa	12	17	7	5	1	1	2	1	2	0	0	3	3	2	2	1	1	1	2	1	1	5	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:106221358A>T	ENST00000355610.4	-	8	1282	c.1008T>A	c.(1006-1008)caT>caA	p.H336Q	MORC4_ENST00000535534.1_Missense_Mutation_p.H84Q|MORC4_ENST00000255495.7_Missense_Mutation_p.H336Q	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	336						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTCGGTTGTTATGATACATCA	0.393																																						uc004emu.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1006-1008)caT>caA		Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.							152	148	149					X																	106221358		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106221358A>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1008T>A	X.37:g.106221358A>T	ENSP00000347821:p.His336Gln					MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.H336Q|MORC4_uc004emw.4_Missense_Mutation_p.H84Q	p.H336Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			7	1283	-			336					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1008T>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737418	0.69304	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.37584	2.5;1.19;2.49	4.99	0.0177	0.14113	.	0.000000	0.85682	D	0.000000	T	0.61664	0.2365	M	0.92691	3.335	0.31142	N	0.70646	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.986;0.986;0.991	T	0.63985	-0.6513	10	0.87932	D	0	-14.9539	7.8864	0.29653	0.6087:0.0:0.3913:0.0	.	84;336;336	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	Q	336;84;336	ENSP00000347821:H336Q;ENSP00000440359:H84Q;ENSP00000255495:H336Q	ENSP00000255495:H336Q	H	-	3	2	MORC4	106108014	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.110000	0.41873	0.003000	0.14656	0.437000	0.28790	CAT		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		T	106221358	A	T	106221358	3	4	263	1	0	0	0	0	1	0	0	0	9704	446	16	5	1845	5	MORC4	23	106221358	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	68790033	106221358	49049202	79	18825											
THOC2	57187	broad.mit.edu	37	chrX	122756613	122756613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacagtgttcctacctgtTagagccactatttccattgc	8	13	8	12	0	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	3	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:122756613T>A	ENST00000245838.8	-	30	3812	c.3781A>T	c.(3781-3783)Aac>Tac	p.N1261Y	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Missense_Mutation_p.N1261Y|THOC2_ENST00000491737.1_Missense_Mutation_p.N1146Y	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1261					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCTACCTGTTAGAGCCACTA	0.373																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3781-3783)Aac>Tac		Homo sapiens THO complex 2 (THOC2), mRNA.							133	109	117					X																	122756613		1869	4082	5951	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122756613T>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3781A>T	X.37:g.122756613T>A	ENSP00000245838:p.Asn1261Tyr					THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.N82Y	p.N1261Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			29	3813	-			1261					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3781A>T	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.40|15.40	2.823197|2.823197	0.50739|0.50739	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	T;T;T|.	0.44482|.	0.92;0.92;0.92|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.266976|.	0.31859|.	N|.	0.006960|.	T|.	0.52208|.	0.1720|.	L|L	0.34521|0.34521	1.04|1.04	0.46774|0.46774	D|D	0.999191|0.999191	D|.	0.64830|.	0.994|.	P|.	0.58077|.	0.832|.	T|.	0.49899|.	-0.8890|.	10|.	0.54805|.	T|.	0.06|.	.|.	9.7574|9.7574	0.40510|0.40510	0.1561:0.0:0.0:0.8439|0.1561:0.0:0.0:0.8439	.|.	1261|.	Q8NI27|.	THOC2_HUMAN|.	Y|L	1261;1261;1146|355	ENSP00000245838:N1261Y;ENSP00000347959:N1261Y;ENSP00000419795:N1146Y|.	ENSP00000245838:N1261Y|.	N|X	-|-	1|2	0|2	THOC2|THOC2	122584294|122584294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.618000|5.618000	0.67722|0.67722	1.770000|1.770000	0.52166|0.52166	0.481000|0.481000	0.45027|0.45027	AAC|TAA		0.373	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122756613	T	A	122756613	3	1	263	1	0	0	0	0	1	0	0	0	15862	1754	61	5	1036	5	THOC2	23	122756613	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	16535255	122756613	32513947	80	18826											
LEPRE1	64175	broad.mit.edu	37	chr1	43215947	43215947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgatgcgccgcacctTctccgtcacgttgtagtaca	7	11	8	15	4	2	1	1	1	1	0	4	1	3	1	4	0	2	4	4	0	2	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:43215947T>C	ENST00000296388.5	-	11	1681	c.1630A>G	c.(1630-1632)Aag>Gag	p.K544E	LEPRE1_ENST00000236040.4_Missense_Mutation_p.K544E|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K544E|LEPRE1_ENST00000462474.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	544					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGCCGCACCTTCTCCGTCACG	0.577																																						uc001chx.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1630-1632)Aag>Gag		Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						136	109	118					1																	43215947		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43215947T>C	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1630A>G	1.37:g.43215947T>C	ENSP00000296388:p.Lys544Glu					LEPRE1_uc001chw.2_Missense_Mutation_p.K544E|LEPRE1_uc001chv.2_Missense_Mutation_p.K544E	p.K544E	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN			10	1743	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	544					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1630A>G	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689838	0.68271	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42513	0.97;0.97;0.97	5.13	5.13	0.70059	Prolyl 4-hydroxylase, alpha subunit (1);	0.151725	0.64402	D	0.000019	T	0.45296	0.1335	L	0.56124	1.755	0.36262	D	0.854639	P;P;P	0.49253	0.921;0.704;0.704	P;B;B	0.46543	0.52;0.294;0.294	T	0.60291	-0.7292	10	0.72032	D	0.01	-29.2974	12.8878	0.58053	0.0:0.0:0.0:1.0	.	544;409;544	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	E	544;544;544;409	ENSP00000380245:K544E;ENSP00000236040:K544E;ENSP00000296388:K544E	ENSP00000236040:K544E	K	-	1	0	LEPRE1	42988534	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.144000	0.71762	1.940000	0.56252	0.383000	0.25322	AAG		0.577	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		C	43215947	T	C	43215947	3	2	264	1	0	0	0	0	1	0	0	0	8729	1792	62	4	619	4	LEPRE1	1	43215947	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08		43215947	206034674	1	18827											
NEXN	91624	broad.mit.edu	37	chr1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgatcaaattaaaaaGgagtggctctattcaagcta	17	10	8	6	0	3	2	2	1	1	1	3	3	3	3	0	2	2	2	0	2	8	4	rs200002561		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:78401572G>T	ENST00000334785.7	+	11	1500	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_ENST00000330010.8_Missense_Mutation_p.R375M|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000480732.2_3'UTR	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313																																						uc001dic.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1315-1317)aGg>aTg		Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.							49	49	49					1																	78401572		1797	4058	5855	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401572G>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1316G>T	1.37:g.78401572G>T	ENSP00000333938:p.Arg439Met					NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.4_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.4_Missense_Mutation_p.R80M	p.R439M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	10	1613	+			439			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1316G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.869359|4.869359	0.91587|0.91587	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T	.|0.78364	.|-0.34;-0.34;-0.03;-1.17	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.64402	.|D	.|0.000018	.|D	.|0.86686	.|0.5992	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.991;0.979;0.999	.|D	.|0.84835	.|0.0804	.|10	.|0.51188	.|T	.|0.08	-14.9207|-14.9207	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|375;425;439;375	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|M	339|425;375;439;425	.|ENSP00000388048:R425M;ENSP00000327363:R375M;ENSP00000333938:R439M;ENSP00000411902:R425M	.|ENSP00000327363:R375M	G|R	+|+	1|2	0|0	NEXN|NEXN	78174160|78174160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.909000|7.909000	0.87444|0.87444	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		T	78401572	G	T	78401572	3	4	264	1	0	0	0	0	1	0	0	0	10355	1000	35	5	1354	5	NEXN	1	78401572	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	35185625	78401572	170849049	2	18828											
LPAR3	23566	broad.mit.edu	37	chr1	85331314	85331314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaattccagcccagtgTggggaccgcccccataaaaa	12	5	11	13	1	0	0	0	0	0	0	1	2	1	1	5	3	1	1	5	3	4	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:85331314T>C	ENST00000440886.1	-	1	528	c.490A>G	c.(490-492)Aca>Gca	p.T164A	LPAR3_ENST00000370611.3_Missense_Mutation_p.T164A|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	164					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGCCCAGTGTGGGGACCGCC	0.527																																						uc001dkl.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(490-492)Aca>Gca		Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.							117	118	118					1																	85331314		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331314T>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.490A>G	1.37:g.85331314T>C	ENSP00000395389:p.Thr164Ala					LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	p.T164A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			0	529	-			164					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.490A>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933843	0.52866	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37411	1.2;1.2	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.045428	0.85682	D	0.000000	T	0.11410	0.0278	N	0.02286	-0.61	0.49051	D	0.999746	P	0.44429	0.835	P	0.46685	0.524	T	0.19516	-1.0303	10	0.22706	T	0.39	.	15.322	0.74129	0.0:0.0:0.0:1.0	.	164	Q9UBY5	LPAR3_HUMAN	A	164	ENSP00000395389:T164A;ENSP00000359643:T164A	ENSP00000359643:T164A	T	-	1	0	LPAR3	85103902	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.254000	0.72460	2.026000	0.59711	0.533000	0.62120	ACA		0.527	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		C	85331314	T	C	85331314	3	2	264	1	0	0	0	0	1	0	0	0	8906	1696	59	4	579	4	LPAR3	1	85331314	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	6929742	85331314	163919307	3	18829											
TDRD10	126668	broad.mit.edu	37	chr1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-																															aactgttcgtgaatacaagcAaaaggccccccaagaggacc																										TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:154493902delA	ENST00000368480.3	+	6	401	c.316delA	c.(316-318)aaafs	p.K106fs	TDRD10_ENST00000368482.4_Frame_Shift_Del_p.K106fs|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	106	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAATACAAGCAAAAGGCCCCC	0.517																																						uc009wow.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(316-318)aaafs		Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.							153	164	160					1																	154493902		2203	4300	6503	SO:0001589	frameshift_variant	126668						nucleotide binding|RNA binding	g.chr1:154493902delA	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.316delA	1.37:g.154493902delA	ENSP00000357465:p.Lys106fs					TDRD10_uc001ffd.3_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.K27fs	p.K106fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1154	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		106			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Del	DEL	ENST00000368480.3	37	c.316delA	CCDS41406.1																																																																																				0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		-	154493902	A	-	154493902	7	5	264	1	0	1	0	1	0	0	0	0	15728	131	5	0	334	0	TDRD10	1	154493902	Frame_Shift_Del	DEL	A	TCGA-76-4934-01A-01D-1486-08	69162588	154493902	94756719	4	18830											
MAP4K3	8491	broad.mit.edu	37	chr2	39515367	39515367	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatctcttgattgttcCttgattttcatcctcagtag	7	17	8	9	0	3	2	2	2	1	0	6	3	5	3	2	1	0	2	2	1	1	7			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:39515367C>A	ENST00000263881.3	-	20	1693	c.1369G>T	c.(1369-1371)Gga>Tga	p.G457*	MAP4K3_ENST00000474502.1_5'Flank|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.G10*|MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.G373*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.G436*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	457					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTGATTGTTCCTTGATTTTCA	0.428																																						uc002rro.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1369-1371)Gga>Tga		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.							179	177	178					2																	39515367		2203	4300	6503	SO:0001587	stop_gained	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39515367C>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1369G>T	2.37:g.39515367C>A	ENSP00000263881:p.Gly457*					MAP4K3_uc002rrp.3_Nonsense_Mutation_p.G436*|MAP4K3_uc010yns.2_Nonsense_Mutation_p.G10*	p.G457*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			19	1460	-		all_hematologic(82;0.211)	457					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Nonsense_Mutation	SNP	ENST00000263881.3	37	c.1369G>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965206	0.97151	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	.	.	.	X	457;373;436;10	.	ENSP00000263881:G457X	G	-	1	0	MAP4K3	39368871	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.845000	0.69437	2.717000	0.92951	0.585000	0.79938	GGA		0.428	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		A	39515367	C	A	39515367	4	1	264	1	0	0	0	0	0	1	0	0	9261	690	24	5	1375	5	MAP4K3	2	39515367	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		39515367	203684006	5	18831											
STON1	11037	broad.mit.edu	37	chr2	48809103	48809103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgataactcaaatttattGcctctgctttgtgaatggga	10	16	9	6	0	2	2	1	2	1	0	2	3	2	3	1	1	3	1	1	1	4	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:48809103G>T	ENST00000406226.1	+	3	1526	c.1331G>T	c.(1330-1332)tGc>tTc	p.C444F	STON1_ENST00000309835.3_Missense_Mutation_p.C444F|STON1_ENST00000404752.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.C444F	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	444	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAATTTATTGCCTCTGCTTT	0.383																																						uc002rwp.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(1330-1332)tGc>tTc		Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.							121	126	124					2																	48809103		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809103G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1331G>T	2.37:g.48809103G>T	ENSP00000384615:p.Cys444Phe					STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.C444F	p.C444F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1445	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	444					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1331G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869631	0.33069	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.54	4.67	0.58626	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.43646	1.37	0.49389	D	0.99978	P;D;D	0.61697	0.594;0.964;0.99	P;P;D	0.64321	0.472;0.745;0.924	T	0.02533	-1.1145	10	0.26408	T	0.33	.	11.5497	0.50713	0.1421:0.0:0.8579:0.0	.	444;444;444	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	F	444	ENSP00000385273:C444F;ENSP00000384615:C444F;ENSP00000310969:C444F;ENSP00000385499:C444F;ENSP00000385701:C444F;ENSP00000378236:C444F;ENSP00000311493:C444F;ENSP00000378234:C444F	ENSP00000310969:C444F	C	+	2	0	STON1-GTF2A1L;STON1	48662607	1.000000	0.71417	0.994000	0.49952	0.737000	0.42083	7.814000	0.86154	1.586000	0.49944	-0.136000	0.14681	TGC		0.383	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		T	48809103	G	T	48809103	3	4	264	1	0	0	0	0	1	0	0	0	15315	1319	46	5	1333	5	STON1	2	48809103	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	9293736	48809103	194390270	6	18832											
CCDC85A	114800	broad.mit.edu	37	chr2	56420085	56420085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcccggagcactccaaGcacaggagcgccagccccga	10	1	13	17	3	0	0	0	0	0	0	1	3	1	2	5	3	5	3	5	3	1	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:56420085G>C	ENST00000407595.2	+	2	1252	c.750G>C	c.(748-750)aaG>aaC	p.K250N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	250	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACTCCAAGCACAGGAGCG	0.662																																						uc002rzn.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(748-750)aaG>aaC		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							26	41	36					2																	56420085		2060	4209	6269	SO:0001583	missense	114800							g.chr2:56420085G>C	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.750G>C	2.37:g.56420085G>C	ENSP00000384040:p.Lys250Asn					CCDC85A_uc021vhw.1_Intron	p.K250N	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	1252	+			250			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.750G>C	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577727	0.45902	.	.	ENSG00000055813	ENST00000407595	T	0.38722	1.12	4.56	2.27	0.28462	.	0.103048	0.64402	D	0.000009	T	0.36386	0.0965	L	0.50333	1.59	0.80722	D	1	P	0.52842	0.956	B	0.44224	0.444	T	0.12993	-1.0526	10	0.66056	D	0.02	-2.1045	7.7842	0.29083	0.4059:0.0:0.5941:0.0	.	250	Q96PX6	CC85A_HUMAN	N	250	ENSP00000384040:K250N	ENSP00000384040:K250N	K	+	3	2	CCDC85A	56273589	0.998000	0.40836	0.998000	0.56505	0.910000	0.53928	0.389000	0.20751	0.305000	0.22832	0.591000	0.81541	AAG		0.662	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			C	56420085	G	C	56420085	3	2	264	1	0	0	0	0	1	0	0	0	2859	962	34	5	756	5	CCDC85A	2	56420085	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	7610982	56420085	186779288	7	18833											
GLI2	2736	broad.mit.edu	37	chr2	121726342	121726342	+	De_novo_Start_InFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgagccgcaagcgggcGctgtccatctccccactctc	5	7	10	19	4	2	1	0	1	2	0	5	1	3	1	5	1	2	2	5	1	1	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:121726342G>A	ENST00000314490.11	+	0	726				GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.A232A|GLI2_ENST00000452319.1_Silent_p.A232A					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAAGCGGGCGCTGTCCATCT	0.632																																						uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(694-696)gcG>gcA		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							76	72	73					2																	121726342		2203	4300	6503			2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726342G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741		2.37:g.121726342G>A						GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	p.A232A	NM_005270	NP_005261	P10070	GLI2_HUMAN			4	726	+	Renal(3;0.0496)	Prostate(154;0.0623)	232						Silent	SNP	ENST00000314490.11	37	c.696G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.612735	0.46631	.	.	ENSG00000074047	ENST00000440937;ENST00000360874	.	.	.	4.91	-3.29	0.05017	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	.	.	.	0.80722	D	1	B	0.27971	0.196	B	0.17722	0.019	T	0.03166	-1.1065	8	0.66056	D	0.02	.	1.9838	0.03432	0.1518:0.2139:0.1708:0.4635	.	103	F5H4D9	.	T	103;95	.	ENSP00000441454:A95T	A	+	1	0	GLI2	121442812	0.001000	0.12720	0.993000	0.49108	0.990000	0.78478	-1.608000	0.02068	-0.252000	0.09528	-0.714000	0.03626	GCT		0.632	GLI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005270		A	121726342	G	A	121726342	1	1	264	1	0	1	0	0	0	0	0	0	6438	1074	38	1		1	GLI2	2	121726342	De_novo_Start_InFrame	SNP	G	TCGA-76-4934-01A-01D-1486-08	65306257	121726342	121473031	8	18834											
ZDBF2	57683	broad.mit.edu	37	chr2	207173022	207173022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagtggctggccaacCtgaagaagtagttaaggagg	12	7	14	8	0	1	2	1	1	0	1	1	3	1	3	3	4	2	3	3	4	5	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:207173022C>A	ENST00000374423.3	+	5	4156	c.3770C>A	c.(3769-3771)cCt>cAt	p.P1257H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1257							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTGGCCAACCTGAAGAAGTA	0.383																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3769-3771)cCt>cAt		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							41	45	44					2																	207173022		1854	4097	5951	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173022C>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3770C>A	2.37:g.207173022C>A	ENSP00000363545:p.Pro1257His						p.P1257H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	4020	+			1257					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3770C>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947551	0.18356	.	.	ENSG00000204186	ENST00000374423	T	0.43294	0.95	3.95	2.75	0.32379	.	.	.	.	.	T	0.33673	0.0871	L	0.34521	1.04	0.09310	N	1	P	0.52316	0.952	P	0.45881	0.496	T	0.13548	-1.0505	9	0.62326	D	0.03	.	5.6698	0.17715	0.0:0.797:0.0:0.203	.	1257	Q9HCK1	ZDBF2_HUMAN	H	1257	ENSP00000363545:P1257H	ENSP00000363545:P1257H	P	+	2	0	ZDBF2	206881267	0.924000	0.31332	0.114000	0.21550	0.003000	0.03518	0.481000	0.22260	0.910000	0.36722	0.650000	0.86243	CCT		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207173022	C	A	207173022	3	1	264	1	0	0	0	0	1	0	0	0	17596	681	24	5	3780	5	ZDBF2	2	207173022	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	85446680	207173022	36026351	9	18835											
PRKAG3	53632	broad.mit.edu	37	chr2	219691740	219691740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtctccagcaccacaGccaagtctcggaatgtgccg	8	8	11	14	2	2	0	0	0	2	0	4	1	2	1	4	1	4	2	4	1	2	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:219691740G>A	ENST00000529249.1	-	10	1394	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	PRKAG3_ENST00000545803.1_Missense_Mutation_p.A176V|PRKAG3_ENST00000392098.3_Silent_p.L345L|PRKAG3_ENST00000439262.2_Missense_Mutation_p.A335V			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	360	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CAGCACCACAGCCAAGTCTCG	0.602																																						uc002vjb.1																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1078-1080)gCt>gTt		Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.							106	104	105					2																	219691740		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691740G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1079C>T	2.37:g.219691740G>A	ENSP00000436068:p.Ala360Val					PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.L402L	p.A360V	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1098	-		Renal(207;0.0474)	360			CBS 3.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.1079C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991393	0.74703	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.90504	-2.68;-2.68;-2.68	5.77	5.77	0.91146	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	N	0.13003	0.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91316	0.5078	10	0.39692	T	0.17	-16.4424	18.9741	0.92728	0.0:0.0:1.0:0.0	.	360	Q9UGI9	AAKG3_HUMAN	V	335;176;360	ENSP00000397133:A335V;ENSP00000444536:A176V;ENSP00000436068:A360V	ENSP00000233944:A360V	A	-	2	0	PRKAG3	219399984	1.000000	0.71417	0.968000	0.41197	0.937000	0.57800	9.635000	0.98437	2.729000	0.93468	0.655000	0.94253	GCT		0.602	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			A	219691740	G	A	219691740	3	1	264	1	0	0	0	0	1	0	0	0	12502	971	34	3	406	3	PRKAG3	2	219691740	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	12518718	219691740	23507633	10	18836											
PASK	23178	broad.mit.edu	37	chr2	242065780	242065780	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagggccagcatccaaCgtggaaggaacgtgtcctgg	9	7	13	12	2	1	0	1	0	0	0	4	2	4	2	4	4	3	1	4	4	3	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:242065780C>T	ENST00000405260.1	-	10	3248	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	PASK_ENST00000539818.1_Silent_p.T634T|PASK_ENST00000544142.1_Silent_p.T664T|PASK_ENST00000358649.4_Silent_p.T850T|PASK_ENST00000403638.3_Silent_p.T850T|PASK_ENST00000234040.4_Silent_p.T850T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	850				T -> M (in Ref. 2; BAA09484). {ECO:0000305}.	negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.T850T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCATCCAACGTGGAAGGAA	0.587																																						uc002wao.2																			2	Substitution - coding silent(2)	p.T850T(3)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2548-2550)acG>acA		Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.							162	150	154					2																	242065780		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065780C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2550G>A	2.37:g.242065780C>T						PASK_uc010zol.2_Silent_p.T664T|PASK_uc010zom.2_Silent_p.T815T|PASK_uc010fzl.2_Silent_p.T850T|PASK_uc010zon.2_Silent_p.T631T|PASK_uc021vzf.1_Silent_p.T850T|PASK_uc002wap.3_Silent_p.T393T|PASK_uc002waq.3_Silent_p.T850T	p.T850T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	9	2683	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	850	T -> M (in Ref. 2; BAA09484).				G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2550G>A	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242065780	C	T	242065780	2	4	264	1	0	0	0	0	0	0	0	1	11472	523	19	1		1	PASK	2	242065780	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	22374040	242065780	1133593	11	18837											
FBXL2	25827	broad.mit.edu	37	chr3	33415165	33415165	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgaggttgtcgaggccTgaaagccctgctcctgaggg	6	8	17	10	2	0	2	0	2	0	0	2	4	1	2	3	4	3	2	3	4	1	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:33415165T>G	ENST00000484457.1	+	8	642	c.551T>G	c.(550-552)cTg>cGg	p.L184R	FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.L100R	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGTCGAGGCCTGAAAGCCCTG	0.552																																						uc003cfp.3																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(550-552)cTg>cGg		Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.							97	89	92					3																	33415165		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415165T>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.551T>G	3.37:g.33415165T>G	ENSP00000417601:p.Leu184Arg					FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.L100R|FBXL2_uc021wuy.1_Intron|FBXL2_uc011axo.2_Missense_Mutation_p.L79R|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	p.L184R	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			7	622	+			184						Missense_Mutation	SNP	ENST00000484457.1	37	c.551T>G	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055108	0.93793	.	.	ENSG00000153558	ENST00000484457;ENST00000538181	T;T	0.78481	-1.18;-1.18	5.29	5.29	0.74685	.	0.073354	0.53938	N	0.000042	D	0.90899	0.7140	H	0.99312	4.51	0.80722	D	1	D;D;P	0.54964	0.969;0.969;0.939	P;P;P	0.52627	0.704;0.704;0.64	D	0.94480	0.7692	10	0.87932	D	0	.	15.1545	0.72730	0.0:0.0:0.0:1.0	.	100;79;184	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	R	184;100	ENSP00000417601:L184R;ENSP00000440794:L100R	ENSP00000417601:L184R	L	+	2	0	FBXL2	33390169	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.947000	0.87758	2.317000	0.78254	0.524000	0.50904	CTG		0.552	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		G	33415165	T	G	33415165	3	3	264	1	0	0	0	0	1	0	0	0	5716	1580	55	5	581	5	FBXL2	3	33415165	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08		33415165	164607265	12	18838											
CSRNP1	64651	broad.mit.edu	37	chr3	39188146	39188146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcctcatccagctggtCaaatttcctcttcaacagcc	8	13	6	14	0	4	0	3	0	1	0	7	0	7	0	4	1	3	2	4	1	2	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:39188146C>A	ENST00000273153.5	-	2	205	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	CSRNP1_ENST00000514182.1_Missense_Mutation_p.D10Y	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	10					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCCAGCTGGTCAAATTTCCTC	0.587																																						uc003cjg.3																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(28-30)Gac>Tac		Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.							82	39	54					3																	39188146		2203	4296	6499	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39188146C>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.28G>T	3.37:g.39188146C>A	ENSP00000273153:p.Asp10Tyr					CSRNP1_uc003cjh.3_Missense_Mutation_p.D10Y	p.D10Y	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN			1	242	-			10					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.28G>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489336	0.64074	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.49139	0.79;0.79	4.06	3.15	0.36227	.	0.187038	0.44902	D	0.000406	T	0.40015	0.1100	L	0.50333	1.59	0.34621	D	0.718613	B	0.27656	0.184	B	0.27796	0.083	T	0.51841	-0.8654	10	0.87932	D	0	-21.5258	8.3137	0.32086	0.1772:0.6514:0.1714:0.0	.	10	Q96S65	CSRN1_HUMAN	Y	10	ENSP00000273153:D10Y;ENSP00000422532:D10Y	ENSP00000273153:D10Y	D	-	1	0	CSRNP1	39163150	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.902000	0.63266	0.767000	0.33267	0.491000	0.48974	GAC		0.587	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		A	39188146	C	A	39188146	3	1	264	1	0	0	0	0	1	0	0	0	3963	826	29	5	1757	5	CSRNP1	3	39188146	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	5772981	39188146	158834284	13	18839											
C3orf15	89876	broad.mit.edu	37	chr3	119462994	119462994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagagagtggtcggcGccaggtggaaaaacagcgcc	11	4	17	9	3	0	2	0	1	0	1	1	4	0	3	2	5	2	1	2	5	3	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:119462994G>A	ENST00000273390.5	+	14	1930	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	454						mitochondrion (GO:0005739)											AGTGGTCGGCGCCAGGTGGAA	0.592																																						uc003ede.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1852-1854)cGc>cAc		Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.							61	60	60					3																	119462994		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462994G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1853G>A	3.37:g.119462994G>A	ENSP00000273390:p.Arg618His					C3orf15_uc010hqz.3_Missense_Mutation_p.R556H|C3orf15_uc011bjd.2_Missense_Mutation_p.R492H|C3orf15_uc011bje.2_Missense_Mutation_p.R598H	p.R618H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	13	1930	+			454					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1853G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715200	0.96830	.	.	ENSG00000183833	ENST00000273390	T	0.61392	0.11	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83537	0.0094	10	0.87932	D	0	-5.7396	19.7305	0.96180	0.0:0.0:1.0:0.0	.	454;556;618	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	H	618	ENSP00000273390:R618H	ENSP00000273390:R618H	R	+	2	0	C3orf15	120945684	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGC		0.592	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119462994	G	A	119462994	3	1	264	1	0	0	0	0	1	0	0	0	2209	1087	38	1	1907	1	C3orf15	3	119462994	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	80274848	119462994	78559436	14	18840											
FAM194A	131831	broad.mit.edu	37	chr3	150387205	150387205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatttaccttgttgggCactcgaatgatggctaggtt	10	13	10	8	1	0	1	0	1	0	0	1	2	0	1	2	3	2	4	2	3	4	6			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:150387205C>T	ENST00000295910.6	-	12	1429	c.1377G>A	c.(1375-1377)gtG>gtA	p.V459V	FAM194A_ENST00000491361.1_Silent_p.V313V	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTTGTTGGGCACTCGAATGA	0.418																																						uc003eyg.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1375-1377)gtG>gtA		Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.							188	173	178					3																	150387205		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150387205C>T																												ENST00000295910.6:c.1377G>A	3.37:g.150387205C>T						FAM194A_uc003eyh.3_Silent_p.V313V	p.V459V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			11	1434	-			459						Silent	SNP	ENST00000295910.6	37	c.1377G>A	CCDS3151.2																																																																																				0.418	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			T	150387205	C	T	150387205	2	4	264	1	0	0	0	0	0	0	0	1	5526	697	25	3		3	FAM194A	3	150387205	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	30924211	150387205	47635225	15	18841											
ZNF595	152687	broad.mit.edu	37	chr4	86956	86956	+	3'UTR	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcttttaaccaatcctCaggccttattatacacagga	14	11	5	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	1	3	2	6	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:86956C>G	ENST00000339368.6	+	0	1765							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACCAATCCTCAGGCCTTATT	0.393																																						uc003fzv.1																			0											c.(1507-1509)tCa>tGa		Homo sapiens zinc finger protein 595 (ZNF595), mRNA.							63	70	68					4																	86956		2083	4257	6340	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:86956C>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1762C>G	4.37:g.86956C>G						ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF718_uc011but.1_Nonsense_Mutation_p.S289*	p.S503*	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	5	1664	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	380						Nonsense_Mutation	SNP	ENST00000339368.6	37	c.1508C>G																																																																																					0.393	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		G	86956	C	G	86956	1	3	264	0	1	0	0	0	0	0	0	0	18022	827	29	5		5	ZNF595	4	86956	3'UTR	SNP	C	TCGA-76-4934-01A-01D-1486-08		86956	191067320	16	18842											
KIT	3815	broad.mit.edu	37	chr4	55561742	55561742	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccatccaggaaaatcAgacttaatagtccgcgtggg	12	9	9	11	2	1	1	1	0	0	1	5	2	5	2	4	2	0	0	4	2	4	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:55561742A>G	ENST00000288135.5	+	2	229	c.132A>G	c.(130-132)tcA>tcG	p.S44S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	44	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGAAAATCAGACTTAATAG	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(130-132)tcA>tcG		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						96	87	90					4																	55561742		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561742A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.132A>G	4.37:g.55561742A>G						KIT_uc010igs.3_Silent_p.S44S	p.S44S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	1	219	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		44			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.132A>G	CCDS3496.1																																																																																				0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			G	55561742	A	G	55561742	2	3	264	1	0	0	0	0	0	0	0	1	8329	175	7	4		4	KIT	4	55561742	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08	55474786	55561742	135592534	17	18843											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634553	156634553	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttccctgtgaggttgctCagcagctgtggcaagggcaa	8	11	13	9	0	1	1	1	1	0	0	2	1	2	1	1	3	3	6	1	3	3	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:156634553C>T	ENST00000296518.7	+	7	1599	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.Q206*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.Q464*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	464					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGAGGTTGCTCAGCAGCTGTG	0.522																																						uc003iov.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1390-1392)Cag>Tag		Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.							94	91	92					4																	156634553		2203	4300	6503	SO:0001587	stop_gained	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634553C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1390C>T	4.37:g.156634553C>T	ENSP00000296518:p.Gln464*					GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqd.3_Nonsense_Mutation_p.Q463*|GUCY1A3_uc003iow.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003iox.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqe.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ioy.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003ioz.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Nonsense_Mutation_p.Q464*	p.Q464*	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1926	+	all_hematologic(180;0.24)	Renal(120;0.0854)	464					D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	c.1390C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	42	9.753385	0.99255	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.88	5.88	0.94601	.	0.311898	0.27922	N	0.017316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	464;464;464;464;206;464;464	.	ENSP00000296518:Q464X	Q	+	1	0	GUCY1A3	156854003	1.000000	0.71417	0.968000	0.41197	0.985000	0.73830	7.792000	0.85828	2.774000	0.95407	0.655000	0.94253	CAG		0.522	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			T	156634553	C	T	156634553	4	4	264	1	0	0	0	0	0	1	0	0	6894	827	29	3	1423	3	GUCY1A3	4	156634553	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	101072811	156634553	34519723	18	18844											
NAF1	92345	broad.mit.edu	37	chr4	164050120	164050120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcagtggtggagggggagGgggtgggggtagggagtatg	7	6	27	1	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	2	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:164050120G>A	ENST00000274054.2	-	8	1607	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	472	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggagggggagggggtgggggt	0.512																																						uc003iqj.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1414-1416)Cct>Tct		Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.							10	11	11					4																	164050120		2190	4274	6464	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050120G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1414C>T	4.37:g.164050120G>A	ENSP00000274054:p.Pro472Ser					NAF1_uc010iqw.1_Intron	p.P472S	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			7	1608	-	all_hematologic(180;0.166)	Prostate(90;0.109)	472			Pro-rich.		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1414C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645356	0.29246	.	.	ENSG00000145414	ENST00000274054	T	0.33216	1.42	4.43	4.43	0.53597	.	0.533493	0.17839	N	0.160264	T	0.20780	0.0500	N	0.19112	0.55	0.23956	N	0.996353	P	0.48162	0.906	B	0.43445	0.42	T	0.07009	-1.0795	10	0.12103	T	0.63	.	13.2959	0.60296	0.0:0.0:1.0:0.0	.	472	Q96HR8	NAF1_HUMAN	S	472	ENSP00000274054:P472S	ENSP00000274054:P472S	P	-	1	0	NAF1	164269570	0.942000	0.31987	0.020000	0.16555	0.055000	0.15305	4.098000	0.57748	2.392000	0.81423	0.655000	0.94253	CCT		0.512	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		A	164050120	G	A	164050120	3	1	264	1	0	0	0	0	1	0	0	0	10140	1232	43	3	215	3	NAF1	4	164050120	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	7415567	164050120	27104156	19	18845											
SLC6A3	6531	broad.mit.edu	37	chr5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgtgagctgccaccGcggaggccccaggtcgtcga	6	5	16	14	4	0	1	0	1	0	0	2	3	0	2	4	4	2	3	4	4	0	0	rs376877303		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:1422074G>A	ENST00000270349.9	-	5	836	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R237W	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	237			R -> Q (in dbSNP:rs6345). {ECO:0000269|PubMed:10391209}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCTGCCACCGCGGAGGCCCC	0.657																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(709-711)Cgg>Tgg		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75	70	72		709	3.5	0.8	5		72	0,8600		0,0,4300	no	missense	SLC6A3	NM_001044.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	237/621	1422074	1,13005	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422074G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.709C>T	5.37:g.1422074G>A	ENSP00000270349:p.Arg237Trp						p.R237W	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	835	-			237		R -> Q (in dbSNP:rs6345).			A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.709C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743241	0.69418	2.27E-4	0.0	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.76448	-1.02;-1.02;-1.02	4.4	3.51	0.40186	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.95328	3.655	0.53005	D	0.999964	D	0.89917	1.0	D	0.70487	0.969	D	0.91675	0.5353	10	0.87932	D	0	.	11.645	0.51255	0.0:0.0:0.8206:0.1794	.	237	Q01959	SC6A3_HUMAN	W	237;237;163	ENSP00000270349:R237W;ENSP00000399806:R237W;ENSP00000429101:R163W	ENSP00000270349:R237W	R	-	1	2	SLC6A3	1475074	1.000000	0.71417	0.802000	0.32245	0.862000	0.49288	5.691000	0.68249	0.941000	0.37499	-0.521000	0.04368	CGG		0.657	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		A	1422074	G	A	1422074	3	1	264	1	0	0	0	0	1	0	0	0	14685	1086	38	1	1197	1	SLC6A3	5	1422074	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		1422074	179493186	20	18846											
NPR3	4883	broad.mit.edu	37	chr5	32724903	32724903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgccttcttcaacattgAgctcttcaacagctcttcct	8	14	4	15	1	5	1	2	1	3	0	6	1	6	1	2	0	5	2	2	0	3	6			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:32724903A>G	ENST00000265074.8	+	2	1212	c.869A>G	c.(868-870)gAg>gGg	p.E290G	NPR3_ENST00000434067.2_Missense_Mutation_p.E74G|NPR3_ENST00000415167.2_Missense_Mutation_p.E290G|NPR3_ENST00000415685.2_Missense_Mutation_p.E74G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	290					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCAACATTGAGCTCTTCAAC	0.537																																						uc003jhv.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(868-870)gAg>gGg		Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	Nesiritide(DB04899)						208	215	213					5																	32724903		2178	4272	6450	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724903A>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.869A>G	5.37:g.32724903A>G	ENSP00000265074:p.Glu290Gly					NPR3_uc010iuo.3_Missense_Mutation_p.E74G|NPR3_uc003jhw.2_Missense_Mutation_p.E74G|NPR3_uc003jhu.3_Missense_Mutation_p.E290G	p.E290G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN			1	1314	+			290					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.869A>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031921	0.93575	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;1.9;1.9	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.145425	0.64402	D	0.000012	D	0.85225	0.5648	M	0.82823	2.61	0.53005	D	0.999963	D;D;D;D	0.71674	0.998;0.998;0.991;0.991	D;D;P;P	0.69654	0.965;0.952;0.812;0.812	D	0.83824	0.0248	10	0.19590	T	0.45	-9.7092	15.039	0.71774	1.0:0.0:0.0:0.0	.	74;74;290;290	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	G	67;74;74;290;290	ENSP00000425325:E67G;ENSP00000388408:E74G;ENSP00000402490:E74G;ENSP00000265074:E290G;ENSP00000398028:E290G	ENSP00000265074:E290G	E	+	2	0	NPR3	32760660	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	8.143000	0.89621	2.001000	0.58596	0.533000	0.62120	GAG		0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		G	32724903	A	G	32724903	3	3	264	1	0	0	0	0	1	0	0	0	10596	304	11	4	875	4	NPR3	5	32724903	Missense_Mutation	SNP	A	TCGA-76-4934-01A-01D-1486-08	31302829	32724903	148190357	21	18847											
LYSMD3	116068	broad.mit.edu	37	chr5	89815175	89815175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatgacgtgaagtctGtcttccttttggaggacaaa	12	12	11	6	1	2	4	0	3	2	1	3	6	3	6	1	2	0	0	1	2	3	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:89815175G>C	ENST00000315948.6	-	3	526	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	LYSMD3_ENST00000509384.1_Missense_Mutation_p.T108R|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	128						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CGTGAAGTCTGTCTTCCTTTT	0.393																																						uc003kjr.3																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(382-384)Cag>Gag		Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.							112	103	106					5																	89815175		1868	4092	5960	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815175G>C	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.382C>G	5.37:g.89815175G>C	ENSP00000314518:p.Gln128Glu					LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	p.Q128E	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	2	530	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	128					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.382C>G	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.398|3.398	-0.122893|-0.122893	0.06795|0.06795	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	T|.	0.16743|.	2.32|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.565272|.	0.19174|.	N|.	0.120858|.	T|T	0.48409|0.48409	0.1498|0.1498	L|L	0.46157|0.46157	1.445|1.445	0.23132|0.23132	N|N	0.99824|0.99824	B|P	0.23937|0.46512	0.094|0.879	B|P	0.14023|0.49252	0.01|0.604	T|T	0.47045|0.47045	-0.9147|-0.9147	10|8	0.02654|0.87932	T|D	1|0	-11.7237|-11.7237	14.565|14.565	0.68168|0.68168	0.0:0.0:0.8545:0.1455|0.0:0.0:0.8545:0.1455	.|.	128|108	Q7Z3D4|Q7Z3D4-2	LYSM3_HUMAN|.	E|R	128|108	ENSP00000314518:Q128E|.	ENSP00000314518:Q128E|ENSP00000427683:T108R	Q|T	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850931|89850931	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.929000|0.929000	0.56500|0.56500	4.635000|4.635000	0.61332|0.61332	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		C	89815175	G	C	89815175	3	2	264	1	0	0	0	0	1	0	0	0	9126	1386	48	5	542	5	LYSMD3	5	89815175	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	57090272	89815175	91100085	22	18848											
DTWD2	285605	broad.mit.edu	37	chr5	118324199	118324199	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcgtgcctctttctgcGactccatggcggacactccg	4	12	11	14	4	2	0	0	0	2	0	5	2	4	1	3	2	2	1	3	2	0	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:118324199G>T	ENST00000510708.1	-	1	41	c.8C>A	c.(7-9)tCg>tAg	p.S3*	DTWD2_ENST00000304058.4_5'Flank|DTWD2_ENST00000515439.3_Nonsense_Mutation_p.S3*	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	3										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTCTTTCTGCGACTCCATGGC	0.706											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ksa.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13						c.(7-9)tCg>tAg		Homo sapiens DTW domain containing 2 (DTWD2), mRNA.							14	18	17					5																	118324199		2194	4296	6490	SO:0001587	stop_gained	285605							g.chr5:118324199G>T		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.8C>A	5.37:g.118324199G>T	ENSP00000425048:p.Ser3*		OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1487		p.S3*	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	0	42	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	3						Nonsense_Mutation	SNP	ENST00000510708.1	37	c.8C>A	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563802	0.86335	.	.	ENSG00000169570	ENST00000510708;ENST00000515439	.	.	.	5.03	1.05	0.20165	.	1.106060	0.06842	N	0.795940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-8.4127	2.9381	0.05820	0.1608:0.1401:0.5545:0.1446	.	.	.	.	X	3	.	ENSP00000425016:S3X	S	-	2	0	DTWD2	118352098	0.321000	0.24625	0.622000	0.29159	0.205000	0.24178	0.356000	0.20181	0.303000	0.22785	0.655000	0.94253	TCG		0.706	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		T	118324199	G	T	118324199	4	4	264	1	0	0	0	0	0	1	0	0	4792	1059	37	5	912	5	DTWD2	5	118324199	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	28509024	118324199	62591061	23	18849											
PCDHA5	56143	broad.mit.edu	37	chr5	140202968	140202968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	0	1	rs201301158		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:140202968G>A	ENST00000529859.1	+	1	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHA5_ENST00000378126.3_Silent_p.A536A|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.A536A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.677																																						uc003lhl.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1606-1608)gcG>gcA		Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.		G	,,,,,,	0,4406		0,0,2203	46	53	51		,,,,1608,,1608	1.9	1	5		51	2,8594		0,2,4296	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,	,,,,536/937,,536/817	140202968	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140202968G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1608G>A	5.37:g.140202968G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.A536A|PCDHAC2_uc003lhj.1_Silent_p.A536A	p.A536A	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1608	+			551			Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1608G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202968	G	A	140202968	2	1	264	1	0	0	0	0	0	0	0	1	11527	1074	38	1		1	PCDHA5	5	140202968	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	21878769	140202968	40712292	24	18850											
KIF4B	285643	broad.mit.edu	37	chr5	154393566	154393566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggtactgataaatccttCacctacgattttgtgtttga	9	17	8	7	1	1	2	1	2	0	0	2	3	2	2	2	1	2	3	2	1	4	8			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:154393566C>G	ENST00000435029.4	+	1	307	c.147C>G	c.(145-147)ttC>ttG	p.F49L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	49	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAAATCCTTCACCTACGATT	0.488																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(145-147)ttC>ttG		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							113	109	111					5																	154393566		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393566C>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.147C>G	5.37:g.154393566C>G	ENSP00000387875:p.Phe49Leu						p.F49L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	307	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	49			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.147C>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.995166	0.54147	.	.	ENSG00000226650	ENST00000435029	D	0.82803	-1.65	1.48	-1.28	0.09318	Kinesin, motor domain (4);	.	.	.	.	D	0.91740	0.7388	H	0.96518	3.835	0.51767	D	0.999932	D	0.89917	1.0	D	0.87578	0.998	D	0.88221	0.2897	9	0.87932	D	0	.	6.3069	0.21143	0.0:0.6394:0.0:0.3606	.	49	Q2VIQ3	KIF4B_HUMAN	L	49	ENSP00000387875:F49L	ENSP00000387875:F49L	F	+	3	2	KIF4B	154373759	1.000000	0.71417	0.952000	0.39060	0.894000	0.52154	2.568000	0.45965	-0.327000	0.08551	-0.471000	0.05019	TTC		0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			G	154393566	C	G	154393566	3	3	264	1	0	0	0	0	1	0	0	0	8304	825	29	5	149	5	KIF4B	5	154393566	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	14190598	154393566	26521694	25	18851											
STK10	6793	broad.mit.edu	37	chr5	171510086	171510086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctctcggagttcctggCgcctgaaaggttaaaggata	11	9	13	8	2	1	1	0	1	1	0	3	4	2	3	2	4	1	3	2	4	5	3	rs550965424		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:171510086C>T	ENST00000176763.5	-	11	2031	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	563					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGTTCCTGGCGCCTGAAAGG	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		17786	0		0	False		,,,				2504	0					uc003mbo.1																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1687-1689)cGc>cAc		Homo sapiens serine/threonine kinase 10 (STK10), mRNA.							71	72	72					5																	171510086		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171510086C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1688G>A	5.37:g.171510086C>T	ENSP00000176763:p.Arg563His						p.R563H	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1988	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	563					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1688G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279408	0.95489	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.72505	-0.66	5.22	5.22	0.72569	.	0.464964	0.21520	N	0.073221	D	0.82953	0.5149	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	D	0.85289	0.1066	10	0.87932	D	0	.	16.2978	0.82784	0.0:1.0:0.0:0.0	.	563	O94804	STK10_HUMAN	H	563	ENSP00000176763:R563H	ENSP00000176763:R563H	R	-	2	0	STK10	171442691	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.732000	0.84908	2.442000	0.82660	0.655000	0.94253	CGC		0.468	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		T	171510086	C	T	171510086	3	4	264	1	0	0	0	0	1	0	0	0	15285	768	27	1	1254	1	STK10	5	171510086	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	17116520	171510086	9405174	26	18852											
CAGE1	285782	broad.mit.edu	37	chr6	7370288	7370288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagattagaatgtgtcGtttttgtatcctacatgcac	10	14	10	7	1	0	2	0	0	0	2	2	3	1	3	1	1	3	4	1	1	4	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:7370288G>A	ENST00000512086.1	-	6	1959	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	CAGE1_ENST00000338150.4_Missense_Mutation_p.T586M|CAGE1_ENST00000379918.4_Missense_Mutation_p.T586M|CAGE1_ENST00000502583.1_Missense_Mutation_p.T586M|CAGE1_ENST00000296742.7_Missense_Mutation_p.T450M			Q8TC20	CAGE1_HUMAN	cancer antigen 1	586										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAATGTGTCGTTTTTGTATC	0.378																																						uc003mxl.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1756-1758)aCg>aTg		Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.							75	69	71					6																	7370288		1835	4089	5924	SO:0001583	missense	285782							g.chr6:7370288G>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1757C>T	6.37:g.7370288G>A	ENSP00000427583:p.Thr586Met					CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.T450M|CAGE1_uc003mxj.3_Missense_Mutation_p.T341M|CAGE1_uc003mxk.2_Missense_Mutation_p.T586M	p.T586M	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN			5	2288	-	Ovarian(93;0.0418)		586					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1757C>T		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.714123	0.00706	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431	T;T;T;T;T	0.30714	1.53;1.53;1.53;1.53;1.52	4.5	-2.39	0.06602	.	1.243410	0.05227	N	0.509567	T	0.02380	0.0073	N	0.00707	-1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.33471	-0.9867	10	0.39692	T	0.17	4.0087	5.0893	0.14700	0.5416:0.1582:0.3002:0.0	.	586;586;586	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	M	586;586;586;450;586;586;586	ENSP00000369250:T586M;ENSP00000425493:T586M;ENSP00000296742:T450M;ENSP00000427583:T586M;ENSP00000338107:T586M	ENSP00000296742:T450M	T	-	2	0	CAGE1	7315287	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.753000	0.04792	-0.592000	0.05851	-1.907000	0.00523	ACG		0.378	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		A	7370288	G	A	7370288	3	1	264	1	0	0	0	0	1	0	0	0	2572	1145	40	1	904	1	CAGE1	6	7370288	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		7370288	163744779	27	18853											
TJAP1	93643	broad.mit.edu	37	chr6	43472961	43472961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccccgcaacagccccctgCccaactgcacttacgctacc	8	6	5	22	2	0	0	0	0	0	0	1	0	1	0	6	0	7	3	6	0	4	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:43472961C>T	ENST00000372445.5	+	11	1418	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TJAP1_ENST00000259751.1_Missense_Mutation_p.P338S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.P338S|TJAP1_ENST00000438588.2_Missense_Mutation_p.P348S|TJAP1_ENST00000372444.2_Missense_Mutation_p.P338S|TJAP1_ENST00000372452.1_Missense_Mutation_p.P338S|TJAP1_ENST00000372449.1_Missense_Mutation_p.P348S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	348					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCCCCTGCCCAACTGCAC	0.652																																						uc003ovd.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(1042-1044)Ccc>Tcc		Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.							55	62	60					6																	43472961		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472961C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1042C>T	6.37:g.43472961C>T	ENSP00000361522:p.Pro348Ser					TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.2_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	p.P348S	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		10	1418	+	all_lung(25;0.00536)		348					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.1042C>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915423	0.92178	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73135	-0.4078	9	0.72032	D	0.01	-40.9683	19.5471	0.95302	0.0:1.0:0.0:0.0	.	348;338	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	S	338;348;338;338;338;338;348;348	.	ENSP00000259751:P338S	P	+	1	0	TJAP1	43580939	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.313000	0.78978	2.622000	0.88805	0.655000	0.94253	CCC		0.652	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		T	43472961	C	T	43472961	3	4	264	1	0	0	0	0	1	0	0	0	15925	739	26	3	1072	3	TJAP1	6	43472961	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	36102673	43472961	127642106	28	18854											
POM121C	100101267	broad.mit.edu	37	chr7	75048122	75048122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggcctgcagtcgctgtCgagcccctggggtcttggat	3	11	15	12	3	1	0	0	0	1	0	4	2	1	1	3	4	2	2	3	4	0	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:75048122C>A	ENST00000257665.5	-	13	3646	c.3647G>T	c.(3646-3648)cGa>cTa	p.R1216L	POM121C_ENST00000453279.2_Missense_Mutation_p.R974L|NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1216	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGTCGCTGTCGAGCCCCTGG	0.592																																						uc003udk.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2920-2922)cGa>cTa		Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.							23	27	26					7																	75048122		2202	4297	6499	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75048122C>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3647G>T	7.37:g.75048122C>A	ENSP00000257665:p.Arg1216Leu						p.R974L	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			14	3806	-			1216			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2921G>T		.	.	.	.	.	.	.	.	.	.	C	18.87	3.714540	0.68730	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.37915	2.65;1.17	2.87	2.87	0.33458	.	.	.	.	.	T	0.54775	0.1879	M	0.65975	2.015	0.37573	D	0.91949	D	0.76494	0.999	D	0.81914	0.995	T	0.63492	-0.6625	9	0.72032	D	0.01	.	11.2806	0.49192	0.0:1.0:0.0:0.0	.	1216	A8CG34	P121C_HUMAN	L	1216;974	ENSP00000257665:R1216L;ENSP00000414208:R974L	ENSP00000257665:R1216L	R	-	2	0	POM121C	74886058	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.548000	0.67255	1.596000	0.50062	0.400000	0.26472	CGA		0.592	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		A	75048122	C	A	75048122	3	1	264	1	0	0	0	0	1	0	0	0	12240	884	31	5	46	5	POM121C	7	75048122	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		75048122	84090541	29	18855											
COL1A2	1278	broad.mit.edu	37	chr7	94040399	94040399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcgtggtgcaagtggccCtgctggagtccgaggaccta	7	9	15	10	2	0	0	0	0	0	0	2	3	1	2	3	4	2	2	3	4	3	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:94040399C>T	ENST00000297268.6	+	23	1754	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	428					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAAGTGGCCCTGCTGGAGTC	0.507										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1282-1284)cCt>cTt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						50	49	49					7																	94040399		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94040399C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1283C>T	7.37:g.94040399C>T	ENSP00000297268:p.Pro428Leu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P428L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		22	1754	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		428					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1283C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726144	0.30593	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96885	-4.16	5.84	5.84	0.93424	.	0.246950	0.42053	D	0.000762	D	0.94850	0.8336	L	0.54908	1.71	0.58432	D	0.999998	B	0.29671	0.254	B	0.29716	0.106	D	0.92092	0.5681	10	0.21014	T	0.42	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	428	P08123	CO1A2_HUMAN	L	428;429	ENSP00000297268:P428L	ENSP00000297268:P428L	P	+	2	0	COL1A2	93878335	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	6.026000	0.70873	2.937000	0.99478	0.650000	0.86243	CCT		0.507	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94040399	C	T	94040399	3	4	264	1	0	0	0	0	1	0	0	0	3678	681	24	3	1373	3	COL1A2	7	94040399	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	18992277	94040399	65098264	30	18856											
FEZF1	389549	broad.mit.edu	37	chr7	121943310	121943310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactttgcaaacgaagggtCtggctcctgtgtgcactggc	8	10	12	11	1	1	0	0	0	1	0	2	1	2	0	1	3	3	3	1	3	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:121943310C>T	ENST00000442488.2	-	2	924	c.857G>A	c.(856-858)aGa>aAa	p.R286K	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.R236K|FEZF1_ENST00000331178.4_Missense_Mutation_p.R282K|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	286					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACGAAGGGTCTGGCTCCTGT	0.468																																						uc003vkd.3																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(856-858)aGa>aAa		Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.							132	124	127					7																	121943310		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943310C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.857G>A	7.37:g.121943310C>T	ENSP00000411145:p.Arg286Lys					FEZF1_uc003vkc.3_Missense_Mutation_p.R236K|LOC154860_uc010lko.2_5'Flank	p.R286K	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	931	-			286					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.857G>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545083	0.86022	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.12361	2.69;2.69;2.69	5.23	5.23	0.72850	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.106345	0.64402	D	0.000004	T	0.16257	0.0391	N	0.03253	-0.375	0.53688	D	0.999971	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.987	T	0.41520	-0.9504	10	0.11182	T	0.66	-3.8802	19.2154	0.93776	0.0:1.0:0.0:0.0	.	286;236	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	K	286;282;236	ENSP00000411145:R286K;ENSP00000332777:R282K;ENSP00000392727:R236K	ENSP00000332777:R282K	R	-	2	0	FEZF1	121730546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.602000	0.87976	0.650000	0.86243	AGA		0.468	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		T	121943310	C	T	121943310	3	4	264	1	0	0	0	0	1	0	0	0	5825	913	32	3	582	3	FEZF1	7	121943310	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	27902911	121943310	37195353	31	18857											
FGL1	2267	broad.mit.edu	37	chr8	17726236	17726236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccccaatattcaactcGtagaaattctaaagaaaaag	18	11	4	8	1	2	2	1	0	1	2	4	2	3	2	2	0	1	1	2	0	10	7	rs142240316		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:17726236G>A	ENST00000398056.2	-	9	1415	c.600C>T	c.(598-600)taC>taT	p.Y200Y	FGL1_ENST00000398054.1_Silent_p.Y200Y|FGL1_ENST00000381840.2_Silent_p.Y200Y|FGL1_ENST00000522444.1_Silent_p.Y200Y|FGL1_ENST00000518650.1_Silent_p.Y200Y|FGL1_ENST00000381841.2_Silent_p.Y200Y|FGL1_ENST00000427924.1_Silent_p.Y200Y			Q08830	FGL1_HUMAN	fibrinogen-like 1	200	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.Y200Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TATTCAACTCGTAGAAATTCT	0.383																																						uc003wye.3																			1	Substitution - coding silent(1)	p.Y200Y(1)	large_intestine(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(748-750)taC>taT		Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.		G	,,,	0,4406		0,0,2203	36	39	38		600,600,600,600	-0.9	0.1	8	dbSNP_134	38	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGL1	NM_004467.3,NM_147203.2,NM_201552.1,NM_201553.1	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	200/313,200/313,200/313,200/313	17726236	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17726236G>A	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.600C>T	8.37:g.17726236G>A						FGL1_uc003wxx.3_Silent_p.Y200Y|FGL1_uc003wxy.3_Silent_p.Y200Y|FGL1_uc003wya.3_Silent_p.Y200Y|FGL1_uc003wyb.3_Silent_p.Y200Y	p.Y250Y	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	8	1416	-			200			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	c.750C>T	CCDS6004.1																																																																																				0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		A	17726236	G	A	17726236	2	1	264	1	0	0	0	0	0	0	0	1	5872	1140	40	1		1	FGL1	8	17726236	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08		17726236	128637786	32	18858											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886046	88886046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcctctgcatgcagcTtacacgcagctcgcgagcta	7	12	8	14	3	1	0	0	0	1	0	3	1	2	0	1	0	6	6	1	0	2	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:88886046T>A	ENST00000319675.3	-	1	250	c.154A>T	c.(154-156)Agc>Tgc	p.S52C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	52										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGCATGCAGCTTACACGCAGC	0.507																																						uc003ydz.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(154-156)Agc>Tgc		Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.							114	103	106					8																	88886046		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886046T>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.154A>T	8.37:g.88886046T>A	ENSP00000316496:p.Ser52Cys						p.S52C	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			0	251	-			52						Missense_Mutation	SNP	ENST00000319675.3	37	c.154A>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582871	0.28268	.	.	ENSG00000176566	ENST00000319675	T	0.70749	-0.51	1.92	1.92	0.25849	WD40 repeat-like-containing domain (1);	0.147233	0.85682	D	0.000000	T	0.73481	0.3592	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.59288	0.855	T	0.63093	-0.6714	10	0.87932	D	0	.	5.8839	0.18870	0.0:0.0:0.0:1.0	.	52	Q8NA75	DC4L2_HUMAN	C	52	ENSP00000316496:S52C	ENSP00000316496:S52C	S	-	1	0	DCAF4L2	88955162	0.988000	0.35896	0.011000	0.14972	0.070000	0.16714	2.287000	0.43505	0.627000	0.30340	0.383000	0.25322	AGC		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88886046	T	A	88886046	3	1	264	1	0	0	0	0	1	0	0	0	4272	1609	56	5	1037	5	DCAF4L2	8	88886046	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	71159810	88886046	57477976	33	18859											
LRRC24	441381	broad.mit.edu	37	chr8	145749853	145749853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaggtgaaatccagcAgccgcgccagctggttgccc	10	5	13	13	2	0	2	0	1	0	1	1	2	1	2	4	2	4	4	4	2	3	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:145749853A>G	ENST00000529415.2	-	3	527	c.410T>C	c.(409-411)cTg>cCg	p.L137P	LRRC24_ENST00000533758.1_Missense_Mutation_p.L137P|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	137						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAAATCCAGCAGCCGCGCCAG	0.662																																						uc003zdm.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(409-411)cTg>cCg		Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.							12	16	15					8																	145749853		1800	3819	5619	SO:0001583	missense	441381					integral to membrane		g.chr8:145749853A>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.410T>C	8.37:g.145749853A>G	ENSP00000434849:p.Leu137Pro					LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	p.L137P	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	542	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		137						Missense_Mutation	SNP	ENST00000529415.2	37	c.410T>C	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886588	0.91814	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.59502	0.26;4.0	4.84	4.84	0.62591	.	0.082948	0.49916	D	0.000135	T	0.76162	0.3949	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.80162	-0.1497	10	0.87932	D	0	.	12.3951	0.55380	1.0:0.0:0.0:0.0	.	137;137	G3V1D8;Q50LG9	.;LRC24_HUMAN	P	137	ENSP00000434849:L137P;ENSP00000435653:L137P	ENSP00000434849:L137P	L	-	2	0	LRRC24	145720661	0.999000	0.42202	0.970000	0.41538	0.921000	0.55340	4.398000	0.59697	2.022000	0.59522	0.533000	0.62120	CTG		0.662	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		G	145749853	A	G	145749853	3	3	264	1	0	0	0	0	1	0	0	0	8979	188	7	4	1143	4	LRRC24	8	145749853	Missense_Mutation	SNP	A	TCGA-76-4934-01A-01D-1486-08	56863807	145749853	614169	34	18860											
NUP188	23511	broad.mit.edu	37	chr9	131752466	131752466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacatgaccctgctttGccacgtcttgccattcagct	9	11	6	15	1	2	1	1	1	1	0	2	1	2	1	3	0	5	2	3	0	1	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:131752466G>T	ENST00000372577.2	+	25	2622	c.2601G>T	c.(2599-2601)ttG>ttT	p.L867F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	867					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCTGCTTTGCCACGTCTTG	0.448																																						uc004bws.1																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2599-2601)ttG>ttT		Homo sapiens nucleoporin 188kDa (NUP188), mRNA.							427	367	387					9																	131752466		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131752466G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2601G>T	9.37:g.131752466G>T	ENSP00000361658:p.Leu867Phe					NUP188_uc004bwu.3_Missense_Mutation_p.L210F	p.L867F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			24	2623	+			867					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2601G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096479	0.76870	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.68903	-0.36	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.74150	-0.3758	10	0.72032	D	0.01	-0.3351	12.1972	0.54305	0.0:0.1285:0.7382:0.1333	.	200;867	E9PET9;Q5SRE5	.;NU188_HUMAN	F	756;867	ENSP00000361658:L867F	ENSP00000349125:L756F	L	+	3	2	NUP188	130792287	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.837000	0.27558	2.894000	0.99253	0.655000	0.94253	TTG		0.448	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			T	131752466	G	T	131752466	3	4	264	1	0	0	0	0	1	0	0	0	10758	1310	46	5	2699	5	NUP188	9	131752466	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		131752466	9460965	35	18861											
BRD3	8019	broad.mit.edu	37	chr9	136913570	136913570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgctttccgcttcacgcCctttttctgcgacagtgaaa	6	14	8	13	3	3	1	1	1	2	0	4	2	4	1	2	0	2	2	2	0	1	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:136913570C>T	ENST00000303407.7	-	6	906	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	BRD3_ENST00000371834.2_Missense_Mutation_p.G241S|BRD3_ENST00000357885.2_Missense_Mutation_p.G241S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	241					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGCTTCACGCCCTTTTTCTGC	0.627			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.3				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(721-723)Ggc>Agc		Homo sapiens bromodomain containing 3 (BRD3), mRNA.							57	68	64					9																	136913570		2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136913570C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.721G>A	9.37:g.136913570C>T	ENSP00000305918:p.Gly241Ser					BRD3_uc004cex.2_Missense_Mutation_p.G241S	p.G241S	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	909	-			241					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.721G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328365	0.81690	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.10382	3.13;2.88;2.88	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13098	-1.0522	10	0.44086	T	0.13	-41.2586	17.1611	0.86803	0.0:1.0:0.0:0.0	.	241;241	Q15059-2;Q15059	.;BRD3_HUMAN	S	241	ENSP00000305918:G241S;ENSP00000360900:G241S;ENSP00000350557:G241S	ENSP00000305918:G241S	G	-	1	0	BRD3	135903391	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.464000	0.80887	2.291000	0.77112	0.561000	0.74099	GGC		0.627	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		T	136913570	C	T	136913570	3	4	264	1	0	0	0	0	1	0	0	0	1503	623	22	3	1487	3	BRD3	9	136913570	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	5161104	136913570	4299861	36	18862											
SLC39A12	221074	broad.mit.edu	37	chr10	18276538	18276538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtttgtgggcttggccgtCgggacactgtctggggacgc	3	11	17	10	3	1	0	0	0	1	0	2	2	1	2	1	5	0	2	1	5	0	2	rs201107118		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:18276538C>T	ENST00000377369.2	+	7	1500	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	SLC39A12_ENST00000377371.3_Silent_p.V409V|SLC39A12_ENST00000377374.4_Silent_p.V409V|SLC39A12_ENST00000539911.1_Silent_p.V275V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	409					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTTGGCCGTCGGGACACTGT	0.502													C|||	1	0.000199681	0	0	5008	,	,		18107	0.001		0	False		,,,				2504	0					uc001ipo.2																			0		p.A408A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1225-1227)gtC>gtT		Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.							173	151	158					10																	18276538		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276538C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1227C>T	10.37:g.18276538C>T						SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	p.V409V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			6	1500	+			409					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1227C>T	CCDS44362.1																																																																																				0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		T	18276538	C	T	18276538	2	4	264	1	0	0	0	0	0	0	0	1	14615	871	31	2		2	SLC39A12	10	18276538	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08		18276538	117258209	37	18863											
C10orf140	387640	broad.mit.edu	37	chr10	21805467	21805469	+	In_Frame_Del	DEL	CCT	CCT	-																															atccgaggccccgctgccccCctcctcctcctcttcctcct																										TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:21805467_21805469delCCT	ENST00000449193.2	-	4	3535_3537	c.1283_1285delAGG	c.(1282-1287)gagggg>ggg	p.E428del	SKIDA1_ENST00000444772.3_In_Frame_Del_p.E349del|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCGCTGCccccctcctcctcctc	0.616																																						uc009xkd.3																			2	Insertion - In frame(2)	p.E428_G429insEE(3)	soft_tissue(2)	kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						c.(1282-1287)gagggg>ggg		Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.																																				SO:0001651	inframe_deletion	387640					nucleus	nucleotide binding	g.chr10:21805467_21805469delCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1283_1285delAGG	10.37:g.21805476_21805478delCCT	ENSP00000410041:p.Glu428del					AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Del_p.E428del	p.E428del	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			3	3536_3538	-			347					B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	ENST00000449193.2	37	c.1283_1285delAGG	CCDS44363.1																																																																																				0.616	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		-	21805469	CCT	-	21805467	7	5	264	1	0	1	0	1	0	0	0	0	1595	623	22	0	1445	0	C10orf140	10	21805467	In_Frame_Del	DEL	CCT	TCGA-76-4934-01A-01D-1486-08	3528929	21805467	113729280	38	18864											
SVIL	6840	broad.mit.edu	37	chr10	29784039	29784039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccaggggtttggaaaCgggtgtggtgcctcttgttt	5	14	14	8	1	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	1	4	rs552158750		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:29784039C>T	ENST00000355867.4	-	19	4488	c.3736G>A	c.(3736-3738)Gtt>Att	p.V1246I	SVIL_ENST00000538146.1_Missense_Mutation_p.V38I|SVIL_ENST00000375400.3_Missense_Mutation_p.V820I|SVIL_ENST00000375398.2_Missense_Mutation_p.V1246I|SVIL_ENST00000535393.1_Missense_Mutation_p.V160I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1246					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTTTGGAAACGGGTGTGGTG	0.552													C|||	1	0.000199681	0	0	5008	,	,		15606	0		0	False		,,,				2504	0.001					uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(3736-3738)Gtt>Att		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.																																				SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29784039C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3736G>A	10.37:g.29784039C>T	ENSP00000348128:p.Val1246Ile					SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	p.V1246I	NM_021738	NP_068506	O95425	SVIL_HUMAN			18	4489	-		Breast(68;0.103)	1246					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3736G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025541	0.19512	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.25749	2.74;2.79;2.79;2.56;1.78	4.37	3.38	0.38709	.	0.167292	0.52532	D	0.000067	T	0.18718	0.0449	L	0.39245	1.2	0.36845	D	0.887627	B;B;B;B	0.14012	0.002;0.002;0.009;0.002	B;B;B;B	0.15052	0.002;0.002;0.012;0.005	T	0.09552	-1.0669	10	0.18276	T	0.48	-15.4185	10.5229	0.44929	0.0:0.8396:0.0:0.1604	.	160;38;820;1246	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	I	820;1246;1246;160;200;38	ENSP00000364549:V820I;ENSP00000364547:V1246I;ENSP00000348128:V1246I;ENSP00000445472:V160I;ENSP00000440343:V38I	ENSP00000348128:V1246I	V	-	1	0	SVIL	29824045	0.924000	0.31332	0.994000	0.49952	0.901000	0.52897	1.235000	0.32671	2.267000	0.75376	0.485000	0.47835	GTT		0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29784039	C	T	29784039	3	4	264	1	0	0	0	0	1	0	0	0	15418	536	19	1	2988	1	SVIL	10	29784039	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	7978572	29784039	105750708	39	18865											
PTEN	5728	broad.mit.edu	37	chr10	89692778	89692778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaccacagttgcacaaTatccttttgaagaccataac	13	14	4	10	0	0	2	0	1	0	1	1	2	1	2	3	0	3	2	3	0	5	8			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:89692778T>C	ENST00000371953.3	+	5	1619	c.262T>C	c.(262-264)Tat>Cat	p.Y88H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	88	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y88N(1)|p.Y88H(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTGCACAATATCCTTTTGA	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(2)	p.0?(37)|p.Y88C(9)|p.?(5)|p.R55fs*1(5)|p.Y88N(2)|p.Y27fs*1(2)|p.Y88H(2)|p.Y88fs*3(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.Y88S(1)|p.F56fs*2(1)|p.Q87*(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM032997	PTEN	M		c.(262-264)Tat>Cat		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							108	98	102					10																	89692778		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692778T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.262T>C	10.37:g.89692778T>C	ENSP00000361021:p.Tyr88His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y88H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1294	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	88			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.262T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365402	0.82463	.	.	ENSG00000171862	ENST00000371953	D	0.98617	-5.03	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.99421	1.0933	9	.	.	.	-6.1498	14.8407	0.70220	0.0:0.0:0.0:1.0	.	88	P60484	PTEN_HUMAN	H	88	ENSP00000361021:Y88H	.	Y	+	1	0	PTEN	89682758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	TAT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692778	T	C	89692778	3	2	264	1	0	0	0	0	1	0	0	0	12738	1406	49	4	280	4	PTEN	10	89692778	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	59908739	89692778	45841969	40	18866											
OR52E8	390079	broad.mit.edu	37	chr11	5878741	5878741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggccaggaagtagtacatAggctcatggagactctgctc	11	9	12	9	0	2	1	1	0	1	1	3	3	2	2	1	4	2	4	1	4	4	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878741A>G	ENST00000537935.1	-	1	223	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATAGGCTCATGGA	0.458																																						uc010qzr.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(190-192)ccT>ccC		Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.							120	139	133					11																	5878741		2149	4296	6445	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878741A>G	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.192T>C	11.37:g.5878741A>G						TRIM5_uc001mbq.1_Intron	p.P64P	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	192	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	64					B9EH38	Silent	SNP	ENST00000537935.1	37	c.192T>C	CCDS31400.1																																																																																				0.458	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		G	5878741	A	G	5878741	2	3	264	1	0	0	0	0	0	0	0	1	11118	407	15	4		4	OR52E8	11	5878741	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08		5878741	129127775	41	18867			1	46		2	2	25	N	C_A	5.349257e-05
OR52E8	390079	broad.mit.edu	37	chr11	5878765	5878765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggagactctgctcagtCtggatcacaaacaagagagc	13	8	10	10	0	5	2	3	0	2	2	5	5	5	3	0	2	3	1	0	2	2	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878765C>T	ENST00000537935.1	-	1	199	c.168G>A	c.(166-168)caG>caA	p.Q56Q	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCAGTCTGGATCACAA	0.483																																						uc010qzr.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(166-168)caG>caA		Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.							116	135	129					11																	5878765		2144	4296	6440	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878765C>T	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.168G>A	11.37:g.5878765C>T						TRIM5_uc001mbq.1_Intron	p.Q56Q	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	168	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	56					B9EH38	Silent	SNP	ENST00000537935.1	37	c.168G>A	CCDS31400.1																																																																																				0.483	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		T	5878765	C	T	5878765	2	4	264	1	0	0	0	0	0	0	0	1	11118	912	32	3		3	OR52E8	11	5878765	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	24	5878765	129127751	42	18868			1	46		2	2	25	N	C_A	5.349257e-05
SYT12	91683	broad.mit.edu	37	chr11	66797643	66797643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggcagaataccatCtgagcggtgagtgcccaggg	9	8	16	8	1	1	3	0	2	1	1	1	4	1	4	2	4	3	1	2	4	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:66797643C>A	ENST00000393946.2	+	5	1190	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	SYT12_ENST00000525457.1_Missense_Mutation_p.L10M|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.L10M			Q8IV01	SYT12_HUMAN	synaptotagmin XII	10						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AGAATACCATCTGAGCGGTGA	0.567																																					Ovarian(65;2862 3307)	uc009yrl.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(28-30)Ctg>Atg		Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.							136	109	118					11																	66797643		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66797643C>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.28C>A	11.37:g.66797643C>A	ENSP00000377520:p.Leu10Met					SYT12_uc001oju.3_Missense_Mutation_p.L10M	p.L10M	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN			1	258	+			10						Missense_Mutation	SNP	ENST00000393946.2	37	c.28C>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778299	0.49786	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.13196	2.61;2.61;2.61	4.23	3.32	0.38043	.	0.334216	0.25032	N	0.033671	T	0.09247	0.0228	N	0.24115	0.695	0.43355	D	0.995429	B	0.32693	0.38	B	0.32533	0.147	T	0.16748	-1.0392	10	0.66056	D	0.02	.	7.8939	0.29695	0.0:0.8865:0.0:0.1135	.	10	Q8IV01	SYT12_HUMAN	M	10	ENSP00000377520:L10M;ENSP00000431400:L10M;ENSP00000435316:L10M	ENSP00000377520:L10M	L	+	1	2	SYT12	66554219	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.836000	0.39191	1.001000	0.39076	0.655000	0.94253	CTG		0.567	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		A	66797643	C	A	66797643	3	1	264	1	0	0	0	0	1	0	0	0	15465	912	32	5	30	5	SYT12	11	66797643	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	60918878	66797643	68208873	43	18869											
KDM5A	5927	broad.mit.edu	37	chr12	416979	416979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggaacttgatttaggaaGaggaacacagctgttatgga	13	11	13	4	0	0	2	0	1	0	1	0	6	0	6	0	4	3	2	0	4	5	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:416979G>A	ENST00000399788.2	-	23	3933	c.3571C>T	c.(3571-3573)Ctt>Ttt	p.L1191F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1191F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1191					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATTTAGGAAGAGGAACACAG	0.443			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0		p.P1190S(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3571-3573)Ctt>Ttt		Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.							131	126	127					12																	416979		1928	4130	6058	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416979G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3571C>T	12.37:g.416979G>A	ENSP00000382688:p.Leu1191Phe						p.L1191F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			22	3934	-			1191					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3571C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591270	0.46214	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.86297	-2.1;-2.1	5.52	4.63	0.57726	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	M	0.83852	2.665	0.51482	D	0.999924	B;B	0.27594	0.182;0.151	B;B	0.29440	0.102;0.091	D	0.84139	0.0416	10	0.19147	T	0.46	-13.9624	14.5863	0.68328	0.0705:0.0:0.9295:0.0	.	1191;1191	P29375;P29375-2	KDM5A_HUMAN;.	F	1191	ENSP00000382688:L1191F;ENSP00000372265:L1191F	ENSP00000372265:L1191F	L	-	1	0	KDM5A	287240	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.591000	0.74090	1.464000	0.47987	0.585000	0.79938	CTT		0.443	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		A	416979	G	A	416979	3	1	264	1	0	0	0	0	1	0	0	0	8133	942	33	3	1525	3	KDM5A	12	416979	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		416979	133434916	44	18870											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6442637	6442637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctgcagccacacacgGtgtcccggtccactgtgcaa	7	9	9	16	2	1	0	0	0	1	0	4	0	4	0	4	2	3	2	4	2	1	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:6442637G>T	ENST00000162749.2	-	4	667	c.368C>A	c.(367-369)aCc>aAc	p.T123N	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.T123N|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.T80N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	123					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GCCACACACGGTGTCCCGGTC	0.552																																						uc001qnu.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(367-369)aCc>aAc		Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.							93	89	91					12																	6442637		2203	4300	6503	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6442637G>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.368C>A	12.37:g.6442637G>T	ENSP00000162749:p.Thr123Asn					TNFRSF1A_uc001qnt.3_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.2_Intron|TNFRSF1A_uc010sez.2_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.3_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.T123N	p.T123N	NM_001065	NP_001056	P19438	TNR1A_HUMAN			3	671	-			123					A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.368C>A	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241053	0.79912	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.06	5.06	0.68205	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.055450	0.64402	D	0.000001	D	0.98065	0.9362	M	0.84326	2.69	0.50813	D	0.999898	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98866	1.0764	10	0.66056	D	0.02	-22.9914	15.9028	0.79397	0.0:0.0:1.0:0.0	.	123;80;123	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	N	123;80;123;123;123;114	ENSP00000162749:T123N;ENSP00000438343:T80N;ENSP00000442059:T123N;ENSP00000380389:T123N;ENSP00000413224:T123N;ENSP00000442919:T114N	ENSP00000162749:T123N	T	-	2	0	TNFRSF1A	6312898	1.000000	0.71417	0.903000	0.35520	0.941000	0.58515	5.750000	0.68712	2.341000	0.79615	0.561000	0.74099	ACC		0.552	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		T	6442637	G	T	6442637	3	4	264	1	0	0	0	0	1	0	0	0	16290	1261	44	5	1027	5	TNFRSF1A	12	6442637	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	6025658	6442637	127409258	45	18871											
ART4	420	broad.mit.edu	37	chr12	14993552	14993552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacccaggcaggtgaatatgGtaaatagtgtctggttccca	11	10	11	9	0	1	1	0	1	1	0	2	1	2	1	2	4	0	3	2	4	5	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:14993552G>A	ENST00000228936.4	-	2	1061	c.680C>T	c.(679-681)aCc>aTc	p.T227I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	227					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GGTGAATATGGTAAATAGTGT	0.463																																						uc001rcl.1																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(679-681)aCc>aTc		Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.							113	114	113					12																	14993552		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993552G>A	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.680C>T	12.37:g.14993552G>A	ENSP00000228936:p.Thr227Ile					ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	p.T227I	NM_021071	NP_066549	Q93070	NAR4_HUMAN			1	1046	-			227					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.680C>T	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804597	0.31869	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.08807	3.05;3.05	4.35	4.35	0.52113	.	0.167640	0.53938	D	0.000054	T	0.24275	0.0588	M	0.72479	2.2	0.29068	N	0.883453	D;D	0.67145	0.996;0.992	D;D	0.70716	0.97;0.97	T	0.01202	-1.1420	10	0.66056	D	0.02	-0.0661	10.6648	0.45723	0.0:0.1938:0.8062:0.0	.	227;227	A8K6J7;Q93070	.;NAR4_HUMAN	I	227;210	ENSP00000228936:T227I;ENSP00000405689:T210I	ENSP00000228936:T227I	T	-	2	0	ART4	14884819	1.000000	0.71417	0.990000	0.47175	0.111000	0.19643	1.361000	0.34136	2.716000	0.92895	0.563000	0.77884	ACC		0.463	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		A	14993552	G	A	14993552	3	1	264	1	0	0	0	0	1	0	0	0	999	1261	44	3	272	3	ART4	12	14993552	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	8550915	14993552	118858343	46	18872											
KRT73	319101	broad.mit.edu	37	chr12	53011874	53011874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacccaccttgtcaatgaaGgaggcgaacttgttgttcag	11	10	11	9	1	2	2	2	1	0	1	2	4	2	3	2	2	1	2	2	2	3	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:53011874G>A	ENST00000305748.3	-	1	469	c.435C>T	c.(433-435)tcC>tcT	p.S145S	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	145	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCAATGAAGGAGGCGAACT	0.547																																						uc001sas.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(433-435)tcC>tcT		Homo sapiens keratin 73 (KRT73), mRNA.							121	120	120					12																	53011874		2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53011874G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.435C>T	12.37:g.53011874G>A							p.S145S	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	0	470	-			145			Coil 1A.|Rod.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.435C>T	CCDS8834.1																																																																																				0.547	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		A	53011874	G	A	53011874	2	1	264	1	0	0	0	0	0	0	0	1	8486	987	35	3		3	KRT73	12	53011874	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	38018322	53011874	80840021	47	18873											
LRP1	4035	broad.mit.edu	37	chr12	57581169	57581169	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccgcccaggggccttcGagcgtgagaccgtcatcact	8	6	12	15	4	2	2	2	1	0	2	3	4	2	2	4	2	1	0	4	2	0	1	rs367854676		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:57581169G>T	ENST00000243077.3	+	42	7427	c.6961G>T	c.(6961-6963)Gag>Tag	p.E2321*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2321					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGGCCTTCGAGCGTGAGAC	0.607																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6961-6963)Gag>Tag		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84	76	78					12																	57581169		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581169G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6961G>T	12.37:g.57581169G>T	ENSP00000243077:p.Glu2321*						p.E2321*	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7427	+			2321					Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.6961G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	51	18.327994	0.99903	.	.	ENSG00000123384	ENST00000243077	.	.	.	4.39	4.39	0.52855	.	0.155040	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	16.2444	0.82434	0.0:0.0:1.0:0.0	.	.	.	.	X	2321	.	ENSP00000243077:E2321X	E	+	1	0	LRP1	55867436	1.000000	0.71417	0.966000	0.40874	0.905000	0.53344	3.941000	0.56607	2.433000	0.82419	0.655000	0.94253	GAG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57581169	G	T	57581169	4	4	264	1	0	0	0	0	0	1	0	0	8951	1059	37	5	7127	5	LRP1	12	57581169	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	4569295	57581169	76270726	48	18874											
LRIG3	121227	broad.mit.edu	37	chr12	59274532	59274532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcataattttccatttcAgcatcatgcagtagttcatt	10	17	6	8	0	3	0	3	0	0	0	4	0	4	0	1	0	3	5	1	0	2	7			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:59274532A>G	ENST00000320743.3	-	13	1918	c.1632T>C	c.(1630-1632)gcT>gcC	p.A544A	LRIG3_ENST00000379141.4_Silent_p.A484A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	544	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCCATTTCAGCATCATGCA	0.488			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1630-1632)gcT>gcC		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.							163	142	149					12																	59274532		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274532A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1632T>C	12.37:g.59274532A>G						LRIG3_uc009zqh.3_Silent_p.A484A|LRIG3_uc010ssh.2_Non-coding_Transcript	p.A544A	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		12	1878	-			544			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1632T>C	CCDS8960.1																																																																																				0.488	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59274532	A	G	59274532	2	3	264	1	0	0	0	0	0	0	0	1	8946	175	7	4		4	LRIG3	12	59274532	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08	1693363	59274532	74577363	49	18875											
TPTE2	93492	broad.mit.edu	37	chr13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataataagtcgtagaagtcGaactaaatgtgtccatctaa	17	11	7	6	2	1	1	0	0	1	1	4	2	2	1	1	0	1	1	1	0	9	5	rs538397448		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0	0	5008	,	,		18530	0.001		0	False		,,,				2504	0					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(529-531)Cga>Tga		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							35	34	34					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		A	20039688	G	A	20039688	4	1	264	1	0	0	0	0	0	1	0	0	16428	1066	37	2	1091	2	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		20039688	95130190	50	18876											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235946	20235946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacggtcggcagaagaacGggaccaccgccctcattcat	11	6	11	13	4	2	3	2	1	0	2	3	4	2	4	3	3	2	1	3	3	3	1	rs376405101		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20235946G>A	ENST00000361479.5	+	8	1968	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G634R	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	634					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAAGAACGGGACCACCGC	0.552																																						uc001umh.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1900-1902)Ggg>Agg		Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.		G	ARG/GLY	0,4406		0,0,2203	97	90	92		1900	6.1	0.8	13		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPHOSPH8	NM_017520.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	634/861	20235946	1,13005	2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235946G>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1900G>A	13.37:g.20235946G>A	ENSP00000355388:p.Gly634Arg					MPHOSPH8_uc001umg.3_Missense_Mutation_p.G634R	p.G634R	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	7	2001	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	634					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1900G>A	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647234	0.87958	0.0	1.16E-4	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.79247	-1.25;-1.25	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89456	0.3733	10	0.87932	D	0	.	20.2672	0.98462	0.0:0.0:1.0:0.0	.	634;634	Q99549;Q99549-2	MPP8_HUMAN;.	R	634	ENSP00000414663:G634R;ENSP00000355388:G634R	ENSP00000355388:G634R	G	+	1	0	MPHOSPH8	19133946	1.000000	0.71417	0.800000	0.32199	0.425000	0.31504	9.189000	0.94928	2.894000	0.99253	0.591000	0.81541	GGG		0.552	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		A	20235946	G	A	20235946	3	1	264	1	0	0	0	0	1	0	0	0	9727	1116	39	2	1930	2	MPHOSPH8	13	20235946	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	196258	20235946	94933932	51	18877											
NALCN	259232	broad.mit.edu	37	chr13	101728226	101728226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaacaatgtacttacatGttttccacagatggagaaaa	15	13	6	7	0	1	2	0	0	1	2	2	3	2	2	1	1	3	2	1	1	6	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:101728226G>A	ENST00000251127.6	-	35	4033	c.3952C>T	c.(3952-3954)Cat>Tat	p.H1318Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1318					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACTTACATGTTTTCCACAG	0.323																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3952-3954)Cat>Tat		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							102	99	100					13																	101728226		2203	4296	6499	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101728226G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3952C>T	13.37:g.101728226G>A	ENSP00000251127:p.His1318Tyr						p.H1318Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			34	4141	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1318					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3952C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588393	0.86851	.	.	ENSG00000102452	ENST00000251127	D	0.98419	-4.92	5.93	5.93	0.95920	Ion transport (1);	0.044474	0.85682	D	0.000000	D	0.98858	0.9614	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.99441	1.0938	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	1318	Q8IZF0	NALCN_HUMAN	Y	1318	ENSP00000251127:H1318Y	ENSP00000251127:H1318Y	H	-	1	0	NALCN	100526227	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.471000	0.97696	2.810000	0.96702	0.655000	0.94253	CAT		0.323	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101728226	G	A	101728226	3	1	264	1	0	0	0	0	1	0	0	0	10148	1377	48	3	1304	3	NALCN	13	101728226	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	81492280	101728226	13441652	52	18878											
BATF	10538	broad.mit.edu	37	chr14	76012841	76012841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacagaacgcggctctaCgcaaggagatcaagcagctc	15	4	11	11	3	2	3	1	0	1	3	3	4	2	3	0	2	5	4	0	2	5	1	rs559944973		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:76012841C>T	ENST00000286639.6	+	3	463	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	69	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCGGCTCTACGCAAGGAGAT	0.612																																						uc001xrr.3																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(205-207)Cgc>Tgc		Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.							72	57	62					14																	76012841		2203	4300	6503	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012841C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.205C>T	14.37:g.76012841C>T	ENSP00000286639:p.Arg69Cys						p.R69C	NM_006399	NP_006390	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	2	447	+			69			Leucine-zipper.			Missense_Mutation	SNP	ENST00000286639.6	37	c.205C>T	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269726	0.80469	.	.	ENSG00000156127	ENST00000286639	T	0.59083	0.29	5.61	4.7	0.59300	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80336	-0.1425	10	0.87932	D	0	-13.0002	14.1132	0.65137	0.1505:0.8495:0.0:0.0	.	69	Q16520	BATF_HUMAN	C	69	ENSP00000286639:R69C	ENSP00000286639:R69C	R	+	1	0	BATF	75082594	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.333000	0.59285	1.330000	0.45394	0.655000	0.94253	CGC		0.612	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		T	76012841	C	T	76012841	3	4	264	1	0	0	0	0	1	0	0	0	1325	536	19	1	215	1	BATF	14	76012841	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		76012841	31336699	53	18879											
HEATR3	55027	broad.mit.edu	37	chr16	50112858	50112858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggggatgatttgattgaaGatgatgaaatggaaggaatt	15	12	14	0	0	0	6	0	5	0	1	0	9	0	9	0	4	0	0	0	4	4	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:50112858G>C	ENST00000299192.7	+	7	1161	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HEATR3_ENST00000285767.4_Missense_Mutation_p.D238H	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	324										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGATTGAAGATGATGAAAT	0.368																																						uc002efw.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(970-972)Gat>Cat		Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.							81	86	84					16																	50112858		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50112858G>C	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.970G>C	16.37:g.50112858G>C	ENSP00000299192:p.Asp324His					HEATR3_uc021thv.1_Missense_Mutation_p.D238H|HEATR3_uc002efx.3_Missense_Mutation_p.D238H	p.D324H	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			6	1132	+			324					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.970G>C	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873791	0.72180	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.31510	1.49;1.49	5.54	4.59	0.56863	Armadillo-type fold (1);	0.248172	0.45606	D	0.000358	T	0.49558	0.1564	M	0.67953	2.075	0.46954	D	0.999264	D;D	0.69078	0.994;0.997	P;P	0.60236	0.871;0.754	T	0.53851	-0.8380	10	0.62326	D	0.03	.	14.4479	0.67364	0.0707:0.0:0.9293:0.0	.	238;324	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	H	238;324	ENSP00000285767:D238H;ENSP00000299192:D324H	ENSP00000285767:D238H	D	+	1	0	HEATR3	48670359	1.000000	0.71417	0.698000	0.30274	0.988000	0.76386	5.735000	0.68587	1.477000	0.48234	0.551000	0.68910	GAT		0.368	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		C	50112858	G	C	50112858	3	2	264	1	0	0	0	0	1	0	0	0	7029	942	33	5	996	5	HEATR3	16	50112858	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		50112858	40241895	54	18880											
SLC12A3	6559	broad.mit.edu	37	chr16	56904089	56904089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattttcgctttcgccaatgCcgtgggtgtggccatgcaca	6	12	11	12	3	0	0	0	0	0	0	2	0	0	0	3	2	2	2	3	2	1	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:56904089C>T	ENST00000563236.1	+	5	708	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC12A3_ENST00000262502.5_Missense_Mutation_p.A227V|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A228V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A227V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	228					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCGCCAATGCCGTGGGTGTG	0.662																																						uc002ekd.4																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(682-684)gCc>gTc		Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						61	60	60					16																	56904089		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904089C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.683C>T	16.37:g.56904089C>T	ENSP00000456149:p.Ala228Val					SLC12A3_uc010ccm.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A227V	p.A228V	NM_000339	NP_000330	P55017	S12A3_HUMAN			4	712	+			228					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.683C>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057590	0.76074	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.39	5.39	0.77823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.984;1.0;1.0	P;D;D	0.85130	0.828;0.997;0.994	T	0.78201	-0.2296	9	0.66056	D	0.02	.	19.1895	0.93658	0.0:1.0:0.0:0.0	.	227;228;228	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	227;228	.	ENSP00000262502:A228V	A	+	2	0	SLC12A3	55461590	1.000000	0.71417	0.503000	0.27626	0.011000	0.07611	7.728000	0.84847	2.526000	0.85167	0.563000	0.77884	GCC		0.662	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			T	56904089	C	T	56904089	3	4	264	1	0	0	0	0	1	0	0	0	14384	739	26	3	701	3	SLC12A3	16	56904089	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	6791231	56904089	33450664	55	18881											
ZC3H18	124245	broad.mit.edu	37	chr16	88688690	88688690	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaggacccttggcgcCgatccaagtctcccaagaag	11	6	12	12	2	1	1	0	0	1	1	3	4	2	3	4	3	0	0	4	3	4	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:88688690C>T	ENST00000301011.5	+	9	1761	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R545*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	521						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R521*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTTGGCGCCGATCCAAGTC	0.602																																					Ovarian(121;375 2276 20373 38669)	uc010voz.2																			1	Substitution - Nonsense(1)	p.R521*(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1633-1635)Cga>Tga		Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.							54	56	55					16																	88688690		2198	4300	6498	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688690C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1561C>T	16.37:g.88688690C>T	ENSP00000301011:p.Arg521*					ZC3H18_uc002fky.3_Nonsense_Mutation_p.R521*|ZC3H18_uc010chw.3_Non-coding_Transcript	p.R545*	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1833	+			521			Ser-rich.		Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1633C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	41	9.031677	0.99042	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.022	19.7135	0.96105	0.0:1.0:0.0:0.0	.	.	.	.	X	521;489;545	.	ENSP00000289509:R489X	R	+	1	2	ZC3H18	87216191	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.482000	0.66833	2.769000	0.95229	0.655000	0.94253	CGA		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88688690	C	T	88688690	4	4	264	1	0	0	0	0	0	1	0	0	17565	644	23	2	1591	2	ZC3H18	16	88688690	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	31784601	88688690	1666063	56	18882											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577120	C	T	7577120	3	4	264	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		7577120	73618090	57	18883											
KRT16	3868	broad.mit.edu	37	chr17	39766792	39766792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctccaggctgttctcCagggatgctttctgcaagtg	5	13	11	12	0	3	0	0	0	3	0	6	1	4	1	3	2	2	4	3	2	1	2	rs375085095		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:39766792C>T	ENST00000301653.4	-	6	1135	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	357	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCTGTTCTCCAGGGATGCTT	0.557																																						uc002hxg.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1069-1071)ctG>ctA		Homo sapiens keratin 16 (KRT16), mRNA.		C		1,4405		0,1,2202	39	39	39		1071	4.3	1	17		39	0,8600		0,0,4300	no	coding-synonymous	KRT16	NM_005557.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		357/474	39766792	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39766792C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1071G>A	17.37:g.39766792C>T						JUP_uc010wfs.2_Intron	p.L357L	NM_005557	NP_005548	P08779	K1C16_HUMAN			5	1210	-		Breast(137;0.000307)	357			Coil 2.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.1071G>A	CCDS11401.1																																																																																				0.557	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		T	39766792	C	T	39766792	2	4	264	1	0	0	0	0	0	0	0	1	8453	581	21	3		3	KRT16	17	39766792	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	32189672	39766792	41428418	58	18884											
NDC80	10403	broad.mit.edu	37	chr18	2610820	2610820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaaataacttgcaacGtctgttagagatggttgcta	12	12	12	5	1	1	1	0	0	1	1	1	3	1	2	0	2	4	4	0	2	5	5	rs144795559		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr18:2610820G>A	ENST00000261597.4	+	16	1933	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	584	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AACTTGCAACGTCTGTTAGAG	0.373																																						uc002kli.3																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(1750-1752)cGt>cAt		Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.		G	HIS/ARG	0,4406		0,0,2203	181	161	168		1751	2.7	1	18	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDC80	NM_006101.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	584/643	2610820	1,13005	2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2610820G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1751G>A	18.37:g.2610820G>A	ENSP00000261597:p.Arg584His						p.R584H	NM_006101	NP_006092	O14777	NDC80_HUMAN			15	1933	+			584			Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1751G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152194	0.21371	0.0	1.16E-4	ENSG00000080986	ENST00000261597	T	0.55413	0.52	5.43	2.65	0.31530	.	0.261575	0.46442	D	0.000297	T	0.46600	0.1401	L	0.60455	1.87	0.38175	D	0.939444	B	0.14012	0.009	B	0.08055	0.003	T	0.48811	-0.9002	10	0.51188	T	0.08	-1.1929	10.505	0.44828	0.2198:0.0:0.7802:0.0	.	584	O14777	NDC80_HUMAN	H	584	ENSP00000261597:R584H	ENSP00000261597:R584H	R	+	2	0	NDC80	2600820	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.066000	0.50002	0.674000	0.31244	-0.806000	0.03193	CGT		0.373	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		A	2610820	G	A	2610820	3	1	264	1	0	0	0	0	1	0	0	0	10242	1145	40	1	1809	1	NDC80	18	2610820	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		2610820	75466428	59	18885											
PCSK4	148223	broad.mit.edu	37	chr19	1482471	1482471	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgtagcggtacaacGtccctggacaggggtcgcgg	7	6	17	11	5	0	0	0	0	0	0	2	1	1	1	1	5	4	3	1	5	3	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:1482471G>A	ENST00000436106.2	-	0	0				PCSK4_ENST00000300954.5_Missense_Mutation_p.T567M|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTACAACGTCCCTGGACA	0.687																																						uc002ltb.1																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1699-1701)aCg>aTg		Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.							33	36	35					19																	1482471		2202	4300	6502	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482471G>A	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482471G>A	Exception_encountered					PCSK4_uc002lsz.2_Missense_Mutation_p.T54M|PCSK4_uc002lta.2_Silent_p.D337D	p.T567M	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1762	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	567					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.1700C>T	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	g	5.686	0.311096	0.10789	.	.	ENSG00000115257	ENST00000300954	T	0.78364	-1.17	4.33	-0.616	0.11583	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.871673	0.09708	N	0.766029	T	0.70692	0.3253	M	0.76002	2.32	0.21861	N	0.999503	B	0.29253	0.239	B	0.20184	0.028	T	0.60459	-0.7259	10	0.45353	T	0.12	.	4.8899	0.13722	0.2172:0.0:0.612:0.1708	.	567	Q6UW60	PCSK4_HUMAN	M	567	ENSP00000300954:T567M	ENSP00000300954:T567M	T	-	2	0	PCSK4	1433471	0.000000	0.05858	0.998000	0.56505	0.324000	0.28378	-0.557000	0.05985	0.387000	0.25024	-1.352000	0.01234	ACG		0.687	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		A	1482471	G	A	1482471	1	1	264	0	1	0	0	0	0	0	0	0	11602	1145	40	1		1	PCSK4	19	1482471	5'Flank	SNP	G	TCGA-76-4934-01A-01D-1486-08		1482471	57646512	60	18886											
GPATCH1	55094	broad.mit.edu	37	chr19	33579113	33579113	+	Frame_Shift_Del	DEL	C	C	-																															aaaggaaggtataaacgattCcacggggcctttagtggagg																								rs370166798		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:33579113delC	ENST00000170564.2	+	2	461	c.147delC	c.(145-147)ttcfs	p.F49fs		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	49					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATAAACGATTCCACGGGGCCT	0.358																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(145-147)ttcfs		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.							90	94	93					19																	33579113		2203	4300	6503	SO:0001589	frameshift_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33579113delC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.147delC	19.37:g.33579113delC	ENSP00000170564:p.Phe49fs						p.F49fs	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			1	461	+	Esophageal squamous(110;0.137)		49					Q8IZV6|Q8N3B7|Q9NW94	Frame_Shift_Del	DEL	ENST00000170564.2	37	c.147delC	CCDS12428.1																																																																																				0.358	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		-	33579113	C	-	33579113	7	5	264	1	0	1	0	1	0	0	0	0	6590	854	30	0	153	0	GPATCH1	19	33579113	Frame_Shift_Del	DEL	C	TCGA-76-4934-01A-01D-1486-08	32096642	33579113	25549870	61	18887											
PSG11	5680	broad.mit.edu	37	chr19	43523198	43523198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatggagggcttgggagtctCcactgtgcagaaaacagaga	12	7	15	7	0	1	2	0	0	1	2	2	6	1	4	1	3	2	2	1	3	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:43523198C>G	ENST00000401740.1	-	3	536	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.E23Q|PSG11_ENST00000320078.7_Missense_Mutation_p.E145Q|PSG11_ENST00000306322.7_Missense_Mutation_p.E23Q			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	145					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E145*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGGAGTCTCCACTGTGCAG	0.507																																						uc002ovm.1																			2	Substitution - Nonsense(2)	p.E145*(3)|p.L144M(1)|p.L144L(1)	lung(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(433-435)Gag>Cag		Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.							131	137	135					19																	43523198		2199	4294	6493	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523198C>G	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.433G>C	19.37:g.43523198C>G	ENSP00000384995:p.Glu145Gln					PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E23Q|PSG11_uc002ovo.1_Missense_Mutation_p.E23Q	p.E145Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			2	540	-		Prostate(69;0.00682)	145					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.433G>C	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	11.44	1.638456	0.29157	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.35421	1.31;2.45;2.45;1.31	1.13	1.13	0.20643	Immunoglobulin subtype (1);	.	.	.	.	T	0.56232	0.1971	M	0.85777	2.775	0.09310	N	1	P;P	0.43314	0.803;0.553	P;P	0.60068	0.868;0.638	T	0.44360	-0.9333	9	0.66056	D	0.02	.	5.5559	0.17115	0.0:1.0:0.0:0.0	.	23;145	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	Q	145;23;23;145	ENSP00000319140:E145Q;ENSP00000385427:E23Q;ENSP00000304913:E23Q;ENSP00000384995:E145Q	ENSP00000304913:E23Q	E	-	1	0	PSG11	48215038	0.000000	0.05858	0.013000	0.15412	0.098000	0.18820	0.014000	0.13333	0.567000	0.29293	0.184000	0.17185	GAG		0.507	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		G	43523198	C	G	43523198	3	3	264	1	0	0	0	0	1	0	0	0	12654	864	30	5	586	5	PSG11	19	43523198	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	9944085	43523198	15605785	62	18888											
CD40	958	broad.mit.edu	37	chr20	44750990	44750990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccagcacaaatactgCgaccccagtgcgtgcgctgt	9	7	10	15	3	0	0	0	0	0	0	0	1	0	0	4	0	6	2	4	0	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr20:44750990C>T	ENST00000372285.3	+	3	321	c.249C>T	c.(247-249)tgC>tgT	p.C83C	CD40_ENST00000372276.3_Silent_p.C83C|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	83			C -> R (in HIGM3; dbSNP:rs28931586). {ECO:0000269|PubMed:11675497}.		B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				ACAAATACTGCGACCCCAGTG	0.527									Immune Deficiency with Hyper-IgM																													uc002xrg.1																			0		p.Y82H(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(247-249)tgC>tgT		Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	Simvastatin(DB00641)						80	72	75					20																	44750990		2203	4300	6503	SO:0001819	synonymous_variant	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44750990C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.249C>T	20.37:g.44750990C>T						CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	p.C83C	NM_001250	NP_001241	P25942	TNR5_HUMAN			2	326	+		Myeloproliferative disorder(115;0.0122)	83		C -> R (in HIGM3; dbSNP:rs28931586).			E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Silent	SNP	ENST00000372285.3	37	c.249C>T	CCDS13393.1																																																																																				0.527	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		T	44750990	C	T	44750990	2	4	264	1	0	0	0	0	0	0	0	1	3015	776	27	1		1	CD40	20	44750990	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08		44750990	18274530	63	18889											
ALG12	79087	broad.mit.edu	37	chr22	50307405	50307405	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctgatgaccccttTccagccattccaggctttca	6	11	7	17	1	1	2	1	2	0	0	3	2	3	2	7	1	2	1	7	1	0	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:50307405T>C	ENST00000330817.6	-	2	282	c.9A>G	c.(7-9)ggA>ggG	p.G3G		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	3					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACCCCTTTCCAGCCATTC	0.597																																						uc003biy.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(7-9)ggA>ggG		Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.							60	68	65					22																	50307405		2203	4300	6503	SO:0001819	synonymous_variant	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307405T>C	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.9A>G	22.37:g.50307405T>C							p.G3G	NM_024105	NP_077010	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	1	283	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	3					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP	ENST00000330817.6	37	c.9A>G	CCDS14081.1																																																																																				0.597	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		C	50307405	T	C	50307405	2	2	264	1	0	0	0	0	0	0	0	1	514	1770	62	4		4	ALG12	22	50307405	Silent	SNP	T	TCGA-76-4934-01A-01D-1486-08		50307405	997161	64	18890											
ARSE	415	broad.mit.edu	37	chrX	2867360	2867360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccttttgagaaaggacGcaacctcctgcagaataagg	13	8	10	10	1	0	3	0	2	0	2	1	5	1	4	3	2	2	2	3	2	4	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:2867360G>A	ENST00000381134.3	-	6	905	c.839C>T	c.(838-840)gCg>gTg	p.A280V	ARSE_ENST00000540563.1_Missense_Mutation_p.A235V|ARSE_ENST00000545496.1_Missense_Mutation_p.A305V	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	280					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAAGGACGCAACCTCCTG	0.488																																						uc011mhh.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(913-915)gCg>gTg		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							63	54	57					X																	2867360		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867360G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.839C>T	X.37:g.2867360G>A	ENSP00000370526:p.Ala280Val					ARSE_uc011mhi.2_Missense_Mutation_p.A226V|ARSE_uc004crc.4_Missense_Mutation_p.A280V	p.A305V			P51690	ARSE_HUMAN			6	1375	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	280					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.914C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.703425	0.00719	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.92965	-3.14;-3.14;-3.14	3.54	-3.94	0.04130	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.743246	0.12593	N	0.455426	T	0.58538	0.2129	N	0.00119	-2.075	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.004	B;B;B	0.06405	0.001;0.002;0.001	T	0.66866	-0.5815	10	0.05525	T	0.97	.	4.2767	0.10813	0.3156:0.0:0.1911:0.4933	.	235;305;280	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	V	235;305;280	ENSP00000438198:A235V;ENSP00000441417:A305V;ENSP00000370526:A280V	ENSP00000370526:A280V	A	-	2	0	ARSE	2877360	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.553000	0.06012	-0.949000	0.03663	-1.098000	0.02139	GCG		0.488	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		A	2867360	G	A	2867360	3	1	264	1	0	0	0	0	1	0	0	0	990	1087	38	1	954	1	ARSE	23	2867360	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		2867360	152403200	65	18891											
CACNA1F	778	broad.mit.edu	37	chrX	49065814	49065814	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaggtgagggcctgccGcatctcaggacccaagtcct	8	7	12	14	1	2	1	2	1	1	0	4	2	3	2	4	3	1	1	4	3	1	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:49065814G>T	ENST00000376265.2	-	42	4955	c.4894C>A	c.(4894-4896)Cgg>Agg	p.R1632R	CACNA1F_ENST00000376251.1_Silent_p.R1567R|CACNA1F_ENST00000323022.5_Silent_p.R1621R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1632					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGCCTGCCGCATCTCAGGA	0.572																																						uc004dnb.3																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(4894-4896)Cgg>Agg		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	Verapamil(DB00661)						71	49	56					X																	49065814		2203	4299	6502	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065814G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4894C>A	X.37:g.49065814G>T						CACNA1F_uc010nip.3_Silent_p.R1621R	p.R1632R	NM_005183	NP_005174	O60840	CAC1F_HUMAN			41	4956	-			1632					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.4894C>A	CCDS35253.1																																																																																				0.572	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49065814	G	T	49065814	2	4	264	1	0	0	0	0	0	0	0	1	2543	1086	38	5		5	CACNA1F	23	49065814	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	46198454	49065814	106204746	66	18892											
STARD8	9754	broad.mit.edu	37	chrX	67937331	67937331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcctcagccccacccaggGccaggagggtccccaggaca	8	3	11	19	0	1	0	1	0	0	0	3	2	3	2	8	4	1	0	8	4	0	0	rs200556349		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:67937331G>A	ENST00000252336.6	+	5	707	c.335G>A	c.(334-336)gGc>gAc	p.G112D	STARD8_ENST00000374599.3_Missense_Mutation_p.G192D|STARD8_ENST00000374597.3_Missense_Mutation_p.G112D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCACCCAGGGCCAGGAGGGT	0.637													g|||	1	0.000264901	0	0	3775	,	,		13085	0.001		0	False		,,,				2504	0					uc004dxb.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(574-576)gGc>gAc		Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.							48	46	46					X																	67937331		2202	4299	6501	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937331G>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.335G>A	X.37:g.67937331G>A	ENSP00000252336:p.Gly112Asp					STARD8_uc004dxa.3_Missense_Mutation_p.G112D|STARD8_uc004dxc.4_Missense_Mutation_p.G112D	p.G192D	NM_001142503	NP_055540	Q92502	STAR8_HUMAN			5	789	+			112					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.575G>A	CCDS14390.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.669	-0.802872	0.02841	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08102	3.13;3.16;3.13	4.39	0.352	0.16051	.	0.524687	0.18606	N	0.136285	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.43621	-0.9380	10	0.18710	T	0.47	.	6.8809	0.24173	0.4674:0.0:0.5326:0.0	.	192;112	Q92502-2;Q92502	.;STAR8_HUMAN	D	112;192;112	ENSP00000252336:G112D;ENSP00000363727:G192D;ENSP00000363725:G112D	ENSP00000252336:G112D	G	+	2	0	STARD8	67854056	0.000000	0.05858	0.010000	0.14722	0.451000	0.32288	0.179000	0.16840	0.013000	0.14918	-0.195000	0.12781	GGC		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		A	67937331	G	A	67937331	3	1	264	1	0	0	0	0	1	0	0	0	15262	1203	42	3	597	3	STARD8	23	67937331	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	18871517	67937331	87333229	67	18893											
CXorf57	55086	broad.mit.edu	37	chrX	105855563	105855563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttagaggatgagccacgcGacacggtgcccaagcctccc	9	6	12	14	3	0	2	0	1	0	1	1	4	1	3	4	2	3	1	4	2	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:105855563G>A	ENST00000372548.4	+	1	362	c.253G>A	c.(253-255)Gac>Aac	p.D85N	CXorf57_ENST00000372544.2_Missense_Mutation_p.D85N	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	85							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGCCACGCGACACGGTGCC	0.572																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(253-255)Gac>Aac		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							99	86	91					X																	105855563		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105855563G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.253G>A	X.37:g.105855563G>A	ENSP00000361628:p.Asp85Asn					CXorf57_uc004emj.4_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	p.D85N	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			0	404	+			85					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.253G>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	2.980	-0.210521	0.06140	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80033	-1.33;-1.33	4.0	2.21	0.28008	Nucleic acid-binding, OB-fold-like (1);	0.436351	0.20493	N	0.091242	T	0.63200	0.2491	L	0.31294	0.92	0.09310	N	1	B;B;B	0.24132	0.098;0.098;0.098	B;B;B	0.14023	0.01;0.01;0.007	T	0.42565	-0.9444	10	0.10902	T	0.67	-9.8566	7.2847	0.26330	0.2374:0.0:0.7626:0.0	.	85;85;85	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	N	85	ENSP00000361623:D85N;ENSP00000361628:D85N	ENSP00000361623:D85N	D	+	1	0	CXorf57	105742219	0.001000	0.12720	0.004000	0.12327	0.210000	0.24377	0.545000	0.23268	0.834000	0.34852	0.600000	0.82982	GAC		0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		A	105855563	G	A	105855563	3	1	264	1	0	0	0	0	1	0	0	0	4113	1058	37	2	255	2	CXorf57	23	105855563	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	37918232	105855563	49414997	68	18894											
ZNF280C	55609	broad.mit.edu	37	chrX	129354388	129354388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgatgctgcgccttatGttcagctttctccttgctgg	4	16	10	11	2	2	0	1	0	1	0	3	1	2	0	2	1	5	5	2	1	2	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:129354388G>A	ENST00000370978.4	-	13	1615	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCGCCTTATGTTCAGCTTTC	0.383																																						uc004evm.3																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1462-1464)Cat>Tat		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.							139	126	130					X																	129354388		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354388G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1462C>T	X.37:g.129354388G>A	ENSP00000360017:p.His488Tyr					ZNF280C_uc010nrf.2_Missense_Mutation_p.H439Y	p.H488Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			12	1665	-			488					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1462C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264994	0.40095	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.13538	2.59;2.58	3.81	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.35537	0.0935	M	0.76170	2.325	0.41573	D	0.98869	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.982	T	0.24440	-1.0160	9	0.87932	D	0	.	12.53	0.56109	0.0:0.0:1.0:0.0	.	439;488	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	439;488;439	ENSP00000360017:H488Y;ENSP00000408521:H439Y	ENSP00000066465:H439Y	H	-	1	0	ZNF280C	129182069	1.000000	0.71417	0.017000	0.16124	0.071000	0.16799	9.033000	0.93741	1.894000	0.54839	0.416000	0.27883	CAT		0.383	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		A	129354388	G	A	129354388	3	1	264	1	0	0	0	0	1	0	0	0	17813	1377	48	3	779	3	ZNF280C	23	129354388	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	23498825	129354388	25916172	69	18895											
AADACL4	343066	broad.mit.edu	37	chr1	12726232	12726232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgccatcctttcagcAgaaccaaaatgtcccattac	12	10	6	13	0	1	1	1	0	0	1	3	1	3	1	4	0	4	3	4	0	4	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:12726232A>G	ENST00000376221.1	+	4	710	c.710A>G	c.(709-711)cAg>cGg	p.Q237R		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	237						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCTTTCAGCAGAACCAAAAT	0.517																																						uc001auf.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(709-711)cAg>cGg		Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.							160	161	161					1																	12726232		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726232A>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.710A>G	1.37:g.12726232A>G	ENSP00000365395:p.Gln237Arg						p.Q237R	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	710	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	237						Missense_Mutation	SNP	ENST00000376221.1	37	c.710A>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980332	0.53827	.	.	ENSG00000204518	ENST00000376221	T	0.10860	2.83	4.23	1.83	0.25207	Alpha/beta hydrolase fold-3 (1);	0.150408	0.46442	N	0.000300	T	0.16685	0.0401	L	0.45228	1.405	0.39479	D	0.967852	D	0.55385	0.971	P	0.58210	0.835	T	0.01940	-1.1243	10	0.52906	T	0.07	-13.5355	7.8977	0.29717	0.8221:0.0:0.1779:0.0	.	237	Q5VUY2	ADCL4_HUMAN	R	237	ENSP00000365395:Q237R	ENSP00000365395:Q237R	Q	+	2	0	AADACL4	12648819	1.000000	0.71417	0.012000	0.15200	0.019000	0.09904	3.752000	0.55172	0.660000	0.30964	0.533000	0.62120	CAG		0.517	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		G	12726232	A	G	12726232	3	3	265	1	0	0	0	0	1	0	0	0	13	188	7	4	724	4	AADACL4	1	12726232	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		12726232	236524389	1	18896											
C1orf173	127254	broad.mit.edu	37	chr1	75038917	75038917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggatctcccttttttctGtaaactcttctgccaattct	7	17	6	11	0	5	0	0	0	5	0	6	2	5	1	2	1	2	1	2	1	3	6			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:75038917G>C	ENST00000326665.5	-	14	2695	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		826	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTTCTGTAAACTCTTC	0.582																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2476-2478)aCa>aGa		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							87	83	85					1																	75038917		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038917G>C																												ENST00000326665.5:c.2477C>G	1.37:g.75038917G>C	ENSP00000322609:p.Thr826Arg						p.T826R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	2696	-			826			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2477C>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	9.974	1.226149	0.22542	.	.	ENSG00000178965	ENST00000326665	T	0.24538	1.85	5.68	-0.866	0.10659	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	D	0.54601	0.967	P	0.46543	0.52	T	0.06409	-1.0828	9	0.13853	T	0.58	0.758	0.4516	0.00502	0.2952:0.1233:0.21:0.3715	.	826	Q5RHP9	CA173_HUMAN	R	826	ENSP00000322609:T826R	ENSP00000322609:T826R	T	-	2	0	C1orf173	74811505	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.730000	0.04915	0.324000	0.23333	0.655000	0.94253	ACA		0.582	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			C	75038917	G	C	75038917	3	2	265	1	0	0	0	0	1	0	0	0	2014	1377	48	5	2119	5	C1orf173	1	75038917	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	62312685	75038917	174211704	2	18897											
MAGI3	260425	broad.mit.edu	37	chr1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgcacagcctgacaccGcagtaatttcagttgtaggc	10	10	9	12	1	1	1	1	1	0	0	1	1	1	1	3	1	2	5	3	1	2	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:114215328G>A	ENST00000307546.9	+	18	3085	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_ENST00000369615.1_Missense_Mutation_p.A1004T|MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1029					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458																																						uc001edk.3																			0		p.T1003T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3010-3012)Gca>Aca		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							217	216	216					1																	114215328		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215328G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3010G>A	1.37:g.114215328G>A	ENSP00000304604:p.Ala1004Thr					MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.4_Missense_Mutation_p.A1004T|MAGI3_uc010owm.2_Missense_Mutation_p.A1029T|MAGI3_uc001edj.3_Missense_Mutation_p.A725T	p.A1004T	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	3191	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1029					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3010G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345845	0.11126	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.16597	2.52;2.33;2.52;2.52	5.86	4.94	0.65067	.	0.165882	0.51477	D	0.000097	T	0.03827	0.0108	N	0.16478	0.41	0.09310	N	1	B;B;B	0.17268	0.021;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.004	T	0.31166	-0.9953	10	0.19147	T	0.46	-13.5001	12.3558	0.55174	0.0801:0.0:0.9199:0.0	.	1004;1004;1029	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	1029;1004;1004;1004;44	ENSP00000358630:A1029T;ENSP00000304604:A1004T;ENSP00000358628:A1004T;ENSP00000358624:A1004T	ENSP00000304604:A1004T	A	+	1	0	MAGI3	114016851	0.893000	0.30496	0.069000	0.20011	0.164000	0.22412	3.285000	0.51716	2.776000	0.95493	0.650000	0.86243	GCA		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		A	114215328	G	A	114215328	3	1	265	1	0	0	0	0	1	0	0	0	9192	1087	38	1	3080	1	MAGI3	1	114215328	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	39176411	114215328	135035293	3	18898											
MTMR11	10903	broad.mit.edu	37	chr1	149906114	149906114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgaacctctcgttgaccGtgctgaccctccagcctctg	5	10	9	17	4	2	2	0	2	2	0	5	3	3	2	5	0	3	2	5	0	1	1	rs368805416		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:149906114G>A	ENST00000439741.2	-	7	903	c.653C>T	c.(652-654)aCg>aTg	p.T218M	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.T218M|MTMR11_ENST00000406732.3_Missense_Mutation_p.T190M|MTMR11_ENST00000369140.3_Missense_Mutation_p.T146M	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	218	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.T146M(1)|p.T218M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCGTTGACCGTGCTGACCCT	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		18026	0		0	False		,,,				2504	0					uc001etl.4																			2	Substitution - Missense(2)	p.T146M(1)|p.T218M(1)	endometrium(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(652-654)aCg>aTg		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.		G	MET/THR,MET/THR	0,4406		0,0,2203	91	86	88		437,653	3	0.6	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MTMR11	NM_181873.3,NM_001145862.1	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	146/641,218/710	149906114	1,13005	2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149906114G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.653C>T	1.37:g.149906114G>A	ENSP00000391668:p.Thr218Met					MTMR11_uc001etm.2_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	p.T218M	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		6	904	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		218			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.653C>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561982	0.45590	0.0	1.16E-4	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732;ENST00000405710	D;D;T;D	0.93076	-3.16;-2.68;0.83;-3.16	6.07	3.01	0.34805	Myotubularin phosphatase domain (1);	0.263784	0.38436	N	0.001687	D	0.84942	0.5584	L	0.58810	1.83	0.34148	D	0.667156	B;B;B;B	0.18610	0.029;0.029;0.029;0.017	B;B;B;B	0.18263	0.014;0.021;0.021;0.009	T	0.79629	-0.1724	10	0.48119	T	0.1	.	8.9984	0.36066	0.2585:0.0:0.7415:0.0	.	60;190;146;218	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	M	146;218;218;190;60	ENSP00000358136:T146M;ENSP00000391668:T218M;ENSP00000354941:T218M;ENSP00000383948:T190M	ENSP00000354941:T218M	T	-	2	0	MTMR11	148172738	0.999000	0.42202	0.577000	0.28562	0.971000	0.66376	3.273000	0.51623	0.771000	0.33359	0.655000	0.94253	ACG		0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		A	149906114	G	A	149906114	3	1	265	1	0	0	0	0	1	0	0	0	9940	1145	40	1	1559	1	MTMR11	1	149906114	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	35690786	149906114	99344507	4	18899											
PLXNA2	5362	broad.mit.edu	37	chr1	208391207	208391207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacccagaccactgagaGcaggaccacagagcggctgt	12	3	12	14	1	0	3	0	1	0	3	0	5	0	4	3	2	3	3	3	2	0	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:208391207G>T	ENST00000367033.3	-	2	818	c.61C>A	c.(61-63)Ctc>Atc	p.L21I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	21					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCACTGAGAGCAGGACCACA	0.657																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(61-63)Ctc>Atc		Homo sapiens plexin A2 (PLXNA2), mRNA.							36	40	39					1																	208391207		2203	4298	6501	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208391207G>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.61C>A	1.37:g.208391207G>T	ENSP00000356000:p.Leu21Ile					PLXNA2_uc001hha.4_Missense_Mutation_p.L75I	p.L21I	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	1	819	-			21					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.61C>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852504	0.32699	.	.	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.83	3.64	0.41730	.	0.856146	0.10515	N	0.665696	T	0.00875	0.0029	N	0.19112	0.55	0.27933	N	0.937809	P;B	0.35575	0.51;0.006	B;B	0.31290	0.127;0.01	T	0.51553	-0.8691	10	0.39692	T	0.17	.	9.5543	0.39328	0.1489:0.1231:0.728:0.0	.	75;21	O75051-2;O75051	.;PLXA2_HUMAN	I	21	ENSP00000356000:L21I	ENSP00000356000:L21I	L	-	1	0	PLXNA2	206457830	0.998000	0.40836	0.955000	0.39395	0.835000	0.47333	0.417000	0.21214	1.472000	0.48140	0.650000	0.86243	CTC		0.657	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208391207	G	T	208391207	3	4	265	1	0	0	0	0	1	0	0	0	12120	971	34	5	5747	5	PLXNA2	1	208391207	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	58485093	208391207	40859414	5	18900											
C2orf39	92749	broad.mit.edu	37	chr2	26647184	26647184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaccagccaggacaaattCgatgaaatcacctcaaagtg	17	6	8	10	1	2	2	2	1	0	1	3	4	2	3	3	1	1	0	3	1	4	1	rs200560247		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:26647184C>T	ENST00000288710.2	+	4	476	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	134					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGGACAAATTCGATGAAATCA	0.498																																						uc002rhg.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						c.(400-402)ttC>ttT		Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	172	169	170		402	-3	0.8	2		170	0,8600		0,0,4300	no	coding-synonymous	CCDC164	NM_145038.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		134/741	26647184	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26647184C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.402C>T	2.37:g.26647184C>T						CCDC164_uc010eym.1_Intron	p.F134F	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			3	476	+			134					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.402C>T	CCDS1723.1																																																																																				0.498	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		T	26647184	C	T	26647184	2	4	265	1	0	0	0	0	0	0	0	1	2164	883	31	2		2	C2orf39	2	26647184	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08		26647184	216552189	6	18901											
SRBD1	55133	broad.mit.edu	37	chr2	45801787	45801787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgaatgaagtcaagcGtgtctttgtctttagcaatc	10	14	9	8	2	3	1	1	1	2	0	5	2	4	1	1	0	2	2	1	0	5	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:45801787G>A	ENST00000263736.4	-	8	1210	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	383					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAAGTCAAGCGTGTCTTTGTC	0.393																																						uc002rus.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1147-1149)aCg>aTg		Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.							135	129	131					2																	45801787		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45801787G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1148C>T	2.37:g.45801787G>A	ENSP00000263736:p.Thr383Met						p.T383M	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		7	1224	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	383					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1148C>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280386	0.59758	.	.	ENSG00000068784	ENST00000263736	T	0.43294	0.95	5.06	5.06	0.68205	Tex-like protein, N-terminal (1);Tex-like domain (1);	0.060883	0.64402	D	0.000004	T	0.58949	0.2158	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.55224	-0.8174	10	0.34782	T	0.22	.	18.0051	0.89207	0.0:0.0:1.0:0.0	.	383	Q8N5C6	SRBD1_HUMAN	M	383	ENSP00000263736:T383M	ENSP00000263736:T383M	T	-	2	0	SRBD1	45655291	1.000000	0.71417	0.928000	0.36995	0.564000	0.35744	4.809000	0.62591	2.358000	0.79984	0.561000	0.74099	ACG		0.393	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		A	45801787	G	A	45801787	3	1	265	1	0	0	0	0	1	0	0	0	15132	1145	40	1	1895	1	SRBD1	2	45801787	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	19154603	45801787	197397586	7	18902											
GALNT5	11227	broad.mit.edu	37	chr2	158165186	158165186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacccttgtgataacagAaacaaagggctaaaatggct	15	8	9	9	0	0	2	0	1	0	1	0	2	0	2	1	2	3	3	1	2	5	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:158165186A>G	ENST00000259056.4	+	9	3113	c.2628A>G	c.(2626-2628)agA>agG	p.R876R		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	876	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGATAACAGAAACAAAGGGC	0.388																																						uc002tzg.3																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2626-2628)agA>agG		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.							116	115	115					2																	158165186		2203	4300	6503	SO:0001819	synonymous_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158165186A>G	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2628A>G	2.37:g.158165186A>G						GALNT5_uc010zci.2_Non-coding_Transcript	p.R876R	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			8	2883	+			876			Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	c.2628A>G	CCDS2203.1																																																																																				0.388	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		G	158165186	A	G	158165186	2	3	265	1	0	0	0	0	0	0	0	1	6216	243	9	4		4	GALNT5	2	158165186	Silent	SNP	A	TCGA-76-4935-01A-01D-1486-08	112363399	158165186	85034187	8	18903											
LY75	4065	broad.mit.edu	37	chr2	160755282	160755282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagattgctgtgccatgtCcatccttcagagccagccgg	7	11	11	12	1	1	2	1	1	0	2	3	3	3	2	5	1	4	1	5	1	0	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:160755282C>A	ENST00000263636.4	-	2	410	c.383G>T	c.(382-384)gGa>gTa	p.G128V	LY75_ENST00000553424.1_Missense_Mutation_p.G128V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G128V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G128V|LY75_ENST00000554112.1_Missense_Mutation_p.G128V	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	128	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G128V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGTGCCATGTCCATCCTTCAG	0.522																																						uc002ubb.4																			1	Substitution - Missense(1)	p.G128V(1)	lung(1)								c.(382-384)gGa>gTa		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.							87	80	82					2																	160755282		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755282C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.383G>T	2.37:g.160755282C>A	ENSP00000263636:p.Gly128Val					LY75-CD302_uc010fos.3_Missense_Mutation_p.G128V|LY75-CD302_uc002ubc.4_Missense_Mutation_p.G128V|LY75-CD302_uc010fot.2_Missense_Mutation_p.G128V	p.G128V	NM_001198759	NP_001185688	O60449	LY75_HUMAN			1	457	-			128			Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.383G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626230	0.28978	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.92	5.04	0.67666	Ricin B-related lectin (1);Ricin B lectin (1);	0.237595	0.21547	N	0.072781	T	0.62877	0.2464	M	0.81239	2.535	0.30796	N	0.740427	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.979;1.0	T	0.67681	-0.5608	10	0.72032	D	0.01	-10.8364	7.8344	0.29362	0.1249:0.6893:0.1203:0.0655	.	128;128;128	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	V	128	ENSP00000451511:G128V;ENSP00000451446:G128V;ENSP00000263636:G128V;ENSP00000423463:G128V;ENSP00000421035:G128V	ENSP00000423463:G128V	G	-	2	0	LY75;LY75-CD302	160463528	0.039000	0.19947	0.312000	0.25196	0.000000	0.00434	1.466000	0.35310	1.510000	0.48803	-0.169000	0.13324	GGA		0.522	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160755282	C	A	160755282	3	1	265	1	0	0	0	0	1	0	0	0	9099	855	30	5	4921	5	LY75	2	160755282	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	2590096	160755282	82444091	9	18904											
VIL1	7429	broad.mit.edu	37	chr2	219294359	219294359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctggtggtgagggaagtCgccacacggccactgacaca	11	6	13	11	2	1	2	0	2	1	0	2	3	1	3	2	4	0	0	2	4	2	0	rs148795202		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:219294359C>T	ENST00000248444.5	+	8	898	c.810C>T	c.(808-810)gtC>gtT	p.V270V	VIL1_ENST00000440053.1_Silent_p.V270V|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	270	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGGAAGTCGCCACACGGC	0.622																																						uc002vib.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(808-810)gtC>gtT		Homo sapiens villin 1 (VIL1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	79	79	79		810	-5	0.1	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		270/828	219294359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219294359C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.810C>T	2.37:g.219294359C>T						VIL1_uc010zke.2_5'UTR|VIL1_uc002via.3_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	p.V270V	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	832	+		Renal(207;0.0474)	270			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.810C>T	CCDS2417.1																																																																																				0.622	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		T	219294359	C	T	219294359	2	4	265	1	0	0	0	0	0	0	0	1	17161	871	31	2		2	VIL1	2	219294359	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	58539077	219294359	23905014	10	18905											
SPEG	10290	broad.mit.edu	37	chr2	220344732	220344732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggcgagcagcaggtgCggatctgtgactttgggaat	7	9	17	8	3	1	1	0	1	1	0	1	4	1	3	0	4	4	2	0	4	1	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:220344732C>T	ENST00000312358.7	+	25	5344	c.5212C>T	c.(5212-5214)Cgg>Tgg	p.R1738W	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1738	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCAGGTGCGGATCTGTGA	0.572																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5212-5214)Cgg>Tgg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							70	79	76					2																	220344732		2164	4265	6429	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344732C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5212C>T	2.37:g.220344732C>T	ENSP00000311684:p.Arg1738Trp						p.R1738W	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	24	5212	+		Renal(207;0.0183)	1738			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5212C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.821889	0.50633	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.40756	1.02	4.55	3.62	0.41486	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41605	D	0.000844	T	0.63058	0.2479	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67738	-0.5593	10	0.87932	D	0	.	12.0785	0.53657	0.3724:0.6276:0.0:0.0	.	1738	Q15772	SPEG_HUMAN	W	1738	ENSP00000311684:R1738W	ENSP00000265327:R1738W	R	+	1	2	SPEG	220052976	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.773000	0.55333	1.172000	0.42781	0.604000	0.83254	CGG		0.572	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220344732	C	T	220344732	3	4	265	1	0	0	0	0	1	0	0	0	15035	759	27	1	5322	1	SPEG	2	220344732	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	1050373	220344732	22854641	11	18906											
D2HGDH	728294	broad.mit.edu	37	chr2	242681957	242681957	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctccactgcccgcaTgaaccgggtcctcagcttcc	6	9	7	19	2	2	1	1	1	1	0	6	1	5	1	6	1	3	2	6	1	1	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:242681957T>C	ENST00000321264.4	+	4	667	c.458T>C	c.(457-459)aTg>aCg	p.M153T	D2HGDH_ENST00000342518.6_Missense_Mutation_p.M153T|D2HGDH_ENST00000403782.1_Missense_Mutation_p.M19T|D2HGDH_ENST00000537090.1_Missense_Mutation_p.M153T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	153	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCCGCATGAACCGGGTC	0.642																																						uc002wce.1																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(457-459)aTg>aCg		Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.							103	82	89					2																	242681957		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242681957T>C	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.458T>C	2.37:g.242681957T>C	ENSP00000315351:p.Met153Thr					D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_Non-coding_Transcript	p.M153T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	631	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	153			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.458T>C	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339637	0.60963	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21;-4.21	5.06	5.06	0.68205	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.99609	4.655	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98727	1.0711	10	0.87932	D	0	.	14.8133	0.70010	0.0:0.0:0.0:1.0	.	153	Q8N465	D2HDH_HUMAN	T	153;153;19;153;37;23	ENSP00000442796:M153T;ENSP00000315351:M153T;ENSP00000384723:M19T;ENSP00000339536:M153T;ENSP00000412511:M37T;ENSP00000404596:M23T	ENSP00000315351:M153T	M	+	2	0	D2HGDH	242330630	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.367000	0.79558	1.913000	0.55393	0.454000	0.30748	ATG		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		C	242681957	T	C	242681957	3	2	265	1	0	0	0	0	1	0	0	0	4213	1464	51	4	468	4	D2HGDH	2	242681957	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	22337225	242681957	517416	12	18907											
GOLGA4	2803	broad.mit.edu	37	chr3	37366849	37366849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcttcaagagcagctaGttgaactgaagatgctggca	11	12	10	8	0	2	4	1	2	1	2	2	4	2	4	0	1	4	5	0	1	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:37366849G>A	ENST00000361924.2	+	14	3846	c.3472G>A	c.(3472-3474)Gtt>Att	p.V1158I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.V1180I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1158	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGCAGCTAGTTGAACTGAA	0.383																																						uc003cgv.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3472-3474)Gtt>Att		Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.							45	46	46					3																	37366849		2203	4298	6501	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366849G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3472G>A	3.37:g.37366849G>A	ENSP00000354486:p.Val1158Ile					GOLGA4_uc010hgr.2_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.3_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.V1039I	p.V1158I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			13	3832	+			1158			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3472G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145700	0.21288	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22743	1.94;1.94;1.94	5.66	-1.06	0.10002	.	0.772568	0.10611	N	0.654500	T	0.15998	0.0385	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.28073	-1.0055	10	0.39692	T	0.17	.	7.3982	0.26948	0.4809:0.1152:0.4038:0.0	.	1158;1158;1180;1158	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	1158;1180;1029	ENSP00000354486:V1158I;ENSP00000349305:V1180I;ENSP00000405842:V1029I	ENSP00000349305:V1180I	V	+	1	0	GOLGA4	37341853	0.000000	0.05858	0.001000	0.08648	0.904000	0.53231	0.450000	0.21762	0.019000	0.15079	-0.136000	0.14681	GTT		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		A	37366849	G	A	37366849	3	1	265	1	0	0	0	0	1	0	0	0	6555	1029	36	3	3596	3	GOLGA4	3	37366849	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		37366849	160655581	13	18908											
CEP63	80254	broad.mit.edu	37	chr3	134225989	134225989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagaactacaggagcTcatgaaacagattgacataa	18	7	9	7	0	1	5	1	3	0	2	1	6	1	6	0	1	5	2	0	1	5	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:134225989T>C	ENST00000337090.3	+	3	256	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CEP63_ENST00000332047.5_Missense_Mutation_p.L28P|CEP63_ENST00000383229.3_Missense_Mutation_p.L28P|CEP63_ENST00000513612.2_Missense_Mutation_p.L28P|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000606977.1_Missense_Mutation_p.L28P|CEP63_ENST00000354446.3_Missense_Mutation_p.L28P			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	28					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTACAGGAGCTCATGAAACAG	0.363																																						uc003eqo.1																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(82-84)cTc>cCc		Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.							109	110	110					3																	134225989		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134225989T>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.83T>C	3.37:g.134225989T>C	ENSP00000336524:p.Leu28Pro					CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.3_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	p.L28P	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			3	532	+			28					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.83T>C	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253119	0.80135	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000003	T	0.56804	0.2010	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.60969	-0.7157	10	0.87932	D	0	-4.8436	15.1658	0.72825	0.0:0.0:0.0:1.0	.	28;28;28;28	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	P	28	ENSP00000328382:L28P;ENSP00000346432:L28P;ENSP00000424626:L28P;ENSP00000336524:L28P;ENSP00000372716:L28P;ENSP00000423225:L28P;ENSP00000426129:L28P	ENSP00000328382:L28P	L	+	2	0	CEP63	135708679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.261000	0.65496	2.228000	0.72767	0.533000	0.62120	CTC		0.363	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		C	134225989	T	C	134225989	3	2	265	1	0	0	0	0	1	0	0	0	3257	1551	54	4	89	4	CEP63	3	134225989	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	96859140	134225989	63796441	14	18909											
HTR3D	200909	broad.mit.edu	37	chr3	183756271	183756271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcacccacctgctgCacgtggccaccacccagccc	7	7	6	21	1	3	0	2	0	1	0	3	0	3	0	6	1	3	2	6	1	0	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:183756271C>A	ENST00000382489.3	+	7	994	c.994C>A	c.(994-996)Cac>Aac	p.H332N	HTR3D_ENST00000334128.2_Missense_Mutation_p.H157N|HTR3D_ENST00000428798.2_Missense_Mutation_p.H282N|HTR3D_ENST00000453435.1_Missense_Mutation_p.H111N	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	332					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CCACCTGCTGCACGTGGCCAC	0.652																																						uc011bqv.2																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(994-996)Cac>Aac		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.							86	80	82					3																	183756271		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756271C>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.994C>A	3.37:g.183756271C>A	ENSP00000371929:p.His332Asn					HTR3D_uc003fmj.3_Missense_Mutation_p.H157N|HTR3D_uc011bqu.2_Missense_Mutation_p.H282N|HTR3D_uc010hxp.3_Missense_Mutation_p.H111N	p.H332N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	994	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		332					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.994C>A	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924028	0.34002	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	3.36	2.38	0.29361	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.511172	0.20460	N	0.091915	D	0.86732	0.6003	M	0.71920	2.185	0.20703	N	0.999863	P;B;B;B	0.36086	0.536;0.176;0.095;0.331	B;B;B;B	0.44224	0.444;0.204;0.121;0.276	T	0.79650	-0.1715	10	0.59425	D	0.04	-12.5057	7.2027	0.25889	0.2652:0.7348:0.0:0.0	.	332;157;111;157	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	N	157;282;332;111	ENSP00000334315:H157N;ENSP00000405409:H282N;ENSP00000371929:H332N;ENSP00000389268:H111N	ENSP00000334315:H157N	H	+	1	0	HTR3D	185238965	0.850000	0.29656	1.000000	0.80357	0.842000	0.47809	0.598000	0.24074	1.879000	0.54435	0.462000	0.41574	CAC		0.652	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		A	183756271	C	A	183756271	3	1	265	1	0	0	0	0	1	0	0	0	7447	710	25	5	1190	5	HTR3D	3	183756271	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	49530282	183756271	14266159	15	18910											
TRIML2	205860	broad.mit.edu	37	chr4	189018255	189018255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgagtcctcttatgtgGcataaactcaggtctgtgat	8	14	10	9	0	3	2	1	2	2	0	4	2	4	2	1	2	2	2	1	2	3	2	rs144128750		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr4:189018255G>A	ENST00000512729.1	-	6	929	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIML2_ENST00000326754.3_Silent_p.C210C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	185	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493																																						uc011cle.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(778-780)tgC>tgT		Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.		G		0,4406		0,0,2203	143	134	137		555	1.8	0	4	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRIML2	NM_173553.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		185/388	189018255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189018255G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.555C>T	4.37:g.189018255G>A						TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.C185C	p.C260C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	6	1002	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	185			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.780C>T	CCDS3850.1																																																																																				0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		A	189018255	G	A	189018255	2	1	265	1	0	0	0	0	0	0	0	1	16548	1195	42	3		3	TRIML2	4	189018255	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		189018255	2136021	16	18911											
HCN1	348980	broad.mit.edu	37	chr5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggagggctgcagaccgCggtggtgtaggagcagggtg	8	6	20	7	2	0	1	0	0	0	1	0	3	0	3	1	6	3	4	1	6	2	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:45262592C>T	ENST00000303230.4	-	8	2161	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	702					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGACCGCGGTGGTGTAG	0.642																																						uc003jok.3																			0		p.A702A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2104-2106)Gcg>Acg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							65	63	64					5																	45262592		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262592C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2104G>A	5.37:g.45262592C>T	ENSP00000307342:p.Ala702Thr						p.A702T	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2129	-			702						Missense_Mutation	SNP	ENST00000303230.4	37	c.2104G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112593	0.56398	.	.	ENSG00000164588	ENST00000303230	T	0.76448	-1.02	5.39	5.39	0.77823	.	0.292882	0.27991	N	0.017024	T	0.70176	0.3194	L	0.55481	1.735	0.51233	D	0.999911	P	0.40144	0.704	B	0.28139	0.086	T	0.69910	-0.5017	10	0.18710	T	0.47	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	702	O60741	HCN1_HUMAN	T	702	ENSP00000307342:A702T	ENSP00000307342:A702T	A	-	1	0	HCN1	45298349	0.998000	0.40836	0.159000	0.22649	0.977000	0.68977	3.853000	0.55941	2.528000	0.85240	0.563000	0.77884	GCG		0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262592	C	T	45262592	3	4	265	1	0	0	0	0	1	0	0	0	6996	768	27	1	572	1	HCN1	5	45262592	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		45262592	135652668	17	18912											
RGNEF	64283	broad.mit.edu	37	chr5	73048878	73048878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgacgcaggccaatcGcctcacagcctgcagccacc	8	5	11	17	2	1	1	1	1	0	0	2	1	1	1	5	2	3	3	5	2	1	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:73048878G>A	ENST00000426542.2	+	3	346	c.326G>A	c.(325-327)cGc>cAc	p.R109H	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R109H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R109H|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R109H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R109H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R109H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	109					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAGGCCAATCGCCTCACAGCC	0.617																																						uc010izf.3																			0											c.(325-327)cGc>cAc		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							36	39	38					5																	73048878		2153	4264	6417	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73048878G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.326G>A	5.37:g.73048878G>A	ENSP00000412175:p.Arg109His					RGNEF_uc011csq.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc021yam.1_Missense_Mutation_p.R109H	p.R109H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	3	502	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	109					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.326G>A	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352064	0.61183	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.10860	3.08;3.07;3.07;2.83;3.07;3.07	5.82	4.91	0.64330	.	.	.	.	.	T	0.22666	0.0547	L	0.40543	1.245	0.26172	N	0.979844	D;D;D;D	0.71674	0.996;0.996;0.998;0.997	P;P;P;P	0.59703	0.732;0.732;0.843;0.862	T	0.03773	-1.1005	9	0.40728	T	0.16	.	17.5734	0.87941	0.0:0.1342:0.8658:0.0	.	109;109;109;109	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	H	109	ENSP00000296794:R109H;ENSP00000441913:R109H;ENSP00000441436:R109H;ENSP00000287898:R109H;ENSP00000411459:R109H;ENSP00000412175:R109H	ENSP00000287898:R109H	R	+	2	0	RP11-428C6.1	73084634	1.000000	0.71417	0.999000	0.59377	0.425000	0.31504	4.704000	0.61831	2.757000	0.94681	0.561000	0.74099	CGC		0.617	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73048878	G	A	73048878	3	1	265	1	0	0	0	0	1	0	0	0	13283	1087	38	1	336	1	RGNEF	5	73048878	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	27786286	73048878	107866382	18	18913											
FBXO38	81545	broad.mit.edu	37	chr5	147807459	147807459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactaccctcggaggcccCtaaccagggccaggagcaga	12	3	12	14	1	0	2	0	0	0	2	1	4	0	4	5	4	3	1	5	4	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:147807459C>A	ENST00000340253.5	+	15	2770	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	868					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGAGGCCCCTAACCAGGGC	0.562																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2602-2604)Cta>Ata		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							43	47	45					5																	147807459		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147807459C>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2602C>A	5.37:g.147807459C>A	ENSP00000342023:p.Leu868Ile					FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	p.L868I	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2722	+			868					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.2602C>A		.	.	.	.	.	.	.	.	.	.	C	12.66	2.005494	0.35415	.	.	ENSG00000145868	ENST00000340253	T	0.37584	1.19	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	T	0.23330	0.0564	N	0.19112	0.55	0.80722	D	1	B	0.31705	0.336	B	0.27796	0.083	T	0.05084	-1.0907	10	0.37606	T	0.19	-9.3759	12.0807	0.53669	0.0:0.9215:0.0:0.0785	.	868	Q6PIJ6	FBX38_HUMAN	I	868	ENSP00000342023:L868I	ENSP00000342023:L868I	L	+	1	2	FBXO38	147787652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.220000	0.42908	2.779000	0.95612	0.591000	0.81541	CTA		0.562	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		A	147807459	C	A	147807459	3	1	265	1	0	0	0	0	1	0	0	0	5746	680	24	5	2656	5	FBXO38	5	147807459	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	74758581	147807459	33107801	19	18914											
FOXI1	2299	broad.mit.edu	37	chr5	169535162	169535162	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctctagcacagcctcCttggccttagagaagacaga	10	10	9	12	0	1	3	0	0	1	3	3	4	3	3	4	1	2	2	4	1	3	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:169535162C>A	ENST00000306268.6	+	2	745	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	228					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGCCTCCTTGGCCTTAG	0.532									Pendred syndrome																													uc003mai.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(682-684)tcC>tcA		Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.							65	68	67					5																	169535162		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535162C>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.684C>A	5.37:g.169535162C>A						FOXI1_uc003maj.4_Intron	p.S228S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	729	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	228					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.684C>A	CCDS4372.1																																																																																				0.532	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		A	169535162	C	A	169535162	2	1	265	1	0	0	0	0	0	0	0	1	6009	668	24	5		5	FOXI1	5	169535162	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	21727703	169535162	11380098	20	18915											
DAXX	1616	broad.mit.edu	37	chr6	33286946	33286946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgggctgggcagggtaCatatctttttcccattcttc	7	14	11	9	0	2	0	0	0	2	0	4	0	3	0	1	4	1	3	1	4	3	6			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33286946C>A	ENST00000374542.5	-	7	2195	c.1991G>T	c.(1990-1992)tGt>tTt	p.C664F	DAXX_ENST00000266000.6_Missense_Mutation_p.C664F|DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.C589F|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	664	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGCAGGGTACATATCTTTTT	0.542			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.3				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1990-1992)tGt>tTt		Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.							97	102	100					6																	33286946		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33286946C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1991G>T	6.37:g.33286946C>A	ENSP00000363668:p.Cys664Phe					ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.C676F|DAXX_uc003oed.3_Missense_Mutation_p.C664F|DAXX_uc011drd.2_Missense_Mutation_p.C589F	p.C664F	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN			6	2195	-			664			Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1991G>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660734	0.00772	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	1.74	0.24563	.	1.907410	0.02251	N	0.066605	T	0.16557	0.0398	L	0.36672	1.1	0.09310	N	1	B;B	0.28850	0.225;0.225	B;B	0.32928	0.155;0.155	T	0.24119	-1.0169	9	0.56958	D	0.05	4.1172	4.4314	0.11529	0.0:0.5831:0.1965:0.2204	.	676;664	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	664;664;589	.	ENSP00000266000:C664F	C	-	2	0	DAXX	33394924	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.094000	0.11094	0.146000	0.19002	0.643000	0.83706	TGT		0.542	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			A	33286946	C	A	33286946	3	1	265	1	0	0	0	0	1	0	0	0	4243	478	17	5	239	5	DAXX	6	33286946	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		33286946	137828121	21	18916											
ABCB5	340273	broad.mit.edu	37	chr7	20782599	20782599	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttatccctcagtattgagCgaggaaagacagtagcattt	12	11	10	8	1	1	2	1	1	0	1	2	4	2	3	1	1	2	4	1	1	4	5	rs201925737		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:20782599C>T	ENST00000404938.2	+	25	3776	c.3124C>T	c.(3124-3126)Cga>Tga	p.R1042*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R597*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1042	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTATTGAGCGAGGAAAGAC	0.483																																						uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3124-3126)Cga>Tga		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG	0,4406		0,0,2203	121	112	115		3124,1789	3.8	1	7		115	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	ABCB5	NM_001163941.1,NM_178559.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1042/1258,597/813	20782599	1,13005	2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782599C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3124C>T	7.37:g.20782599C>T	ENSP00000384881:p.Arg1042*					ABCB5_uc003suw.4_Nonsense_Mutation_p.R597*	p.R1042*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN			24	3361	+			597					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.3124C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	41	8.540197	0.98854	0.0	1.16E-4	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.96	3.82	0.43975	.	0.452151	0.19551	N	0.111580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.9878	0.47532	0.8352:0.1648:0.0:0.0	.	.	.	.	X	1042;597	.	ENSP00000258738:R597X	R	+	1	2	ABCB5	20749124	0.051000	0.20477	1.000000	0.80357	0.379000	0.30106	1.077000	0.30741	0.923000	0.37045	-0.271000	0.10264	CGA		0.483	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		T	20782599	C	T	20782599	4	4	265	1	0	0	0	0	0	1	0	0	44	760	27	1	3259	1	ABCB5	7	20782599	Nonsense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		20782599	138356064	22	18917											
C7orf60	154743	broad.mit.edu	37	chr7	112461814	112461814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatattaacttaaaagtaaTatggggtcttctagctcata	14	15	6	6	0	3	0	1	0	2	0	3	0	3	0	0	2	2	2	0	2	9	9			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:112461814T>C	ENST00000297145.4	-	5	1368	c.1203A>G	c.(1201-1203)atA>atG	p.I401M	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	401							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTAAAAGTAATATGGGGTCTT	0.398																																						uc011kms.1																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1279-1281)atA>atG		Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.							94	90	91					7																	112461814		1807	4071	5878	SO:0001583	missense	154743							g.chr7:112461814T>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1203A>G	7.37:g.112461814T>C	ENSP00000297145:p.Ile401Met					C7orf60_uc003vgo.1_Missense_Mutation_p.I401M	p.I427M	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1408	-			401					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.1281A>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466839	0.43839	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.83	-0.125	0.13519	.	0.043194	0.85682	D	0.000000	T	0.36054	0.0953	N	0.24115	0.695	0.45227	D	0.998236	D;P	0.54397	0.966;0.917	P;B	0.49665	0.618;0.426	T	0.20739	-1.0266	9	0.87932	D	0	-11.2855	7.1753	0.25740	0.228:0.0:0.2495:0.5225	.	348;401	B4DST1;Q1RMZ1	.;CG060_HUMAN	M	401;383;348	.	ENSP00000297145:I401M	I	-	3	3	C7orf60	112249050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.584000	0.23864	0.411000	0.25702	0.477000	0.44152	ATA		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		C	112461814	T	C	112461814	3	2	265	1	0	0	0	0	1	0	0	0	2407	1396	49	4	18	4	C7orf60	7	112461814	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	91679215	112461814	46676849	23	18918											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518832	113518832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcatgtggatcaaacGctgtttcctttacctcgatg	7	15	7	12	2	2	0	2	0	0	0	5	2	4	1	3	1	2	2	3	1	2	4	rs200605903		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:113518832G>A	ENST00000284601.3	-	4	2383	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCAAACGCTGTTTCCTT	0.403																																						uc010ljy.1																			0		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2314-2316)gCg>gTg		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	124	108	113		2315	3.7	1	7		113	0,8598		0,0,4299	yes	missense	PPP1R3A	NM_002711.3	64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	772/1123	113518832	1,13003	2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518832G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2315C>T	7.37:g.113518832G>A	ENSP00000284601:p.Ala772Val						p.A772V	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	2346	-			772					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2315C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136028	0.56936	2.27E-4	0.0	ENSG00000154415	ENST00000284601	T	0.25912	1.77	5.77	3.72	0.42706	.	0.293315	0.29602	N	0.011682	T	0.39784	0.1091	M	0.72894	2.215	0.33728	D	0.617853	D	0.71674	0.998	P	0.57502	0.822	T	0.53704	-0.8401	10	0.45353	T	0.12	1.5176	7.9596	0.30064	0.345:0.0:0.655:0.0	.	772	Q16821	PPR3A_HUMAN	V	772	ENSP00000284601:A772V	ENSP00000284601:A772V	A	-	2	0	PPP1R3A	113306068	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.064000	0.30579	0.592000	0.29728	0.650000	0.86243	GCG		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113518832	G	A	113518832	3	1	265	1	0	0	0	0	1	0	0	0	12371	1087	38	1	1057	1	PPP1R3A	7	113518832	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	1057018	113518832	45619831	24	18919											
OR2A1	346528	broad.mit.edu	37	chr7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgctggctgcatgaCgcagacctttctctgtttga	5	15	9	12	1	1	3	0	2	1	1	3	3	2	3	2	1	2	5	2	1	0	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:144015510C>T	ENST00000408951.1	+	1	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M	OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577																																						uc011kud.2																			0				large_intestine(1)|lung(3)|skin(2)	6						c.(292-294)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.							187	213	204					7																	144015510		2202	4298	6500	SO:0001583	missense	346528				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:144015510C>T		CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.293C>T	7.37:g.144015510C>T	ENSP00000386175:p.Thr98Met					OR2A9P_uc003wec.1_Intron	p.T98M	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN			0	293	+	Melanoma(164;0.14)		98					Q6IF44|Q96R46	Missense_Mutation	SNP	ENST00000408951.1	37	c.293C>T	CCDS43673.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.847531	0.00067	.	.	ENSG00000221970	ENST00000408951	T	0.02974	4.09	2.96	-0.0411	0.13869	.	.	.	.	.	T	0.04634	0.0126	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.42275	-0.9461	7	0.16896	T	0.51	.	9.3031	0.37858	0.0:0.7607:0.0:0.2393	.	.	.	.	M	98	ENSP00000386175:T98M	ENSP00000386175:T98M	T	+	2	0	OR2A1	143646443	0.000000	0.05858	0.007000	0.13788	0.037000	0.13140	-0.483000	0.06536	0.096000	0.17463	-1.855000	0.00564	ACG		0.577	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1			T	144015510	C	T	144015510	3	4	265	1	0	0	0	0	1	0	0	0	10974	536	19	1	295	1	OR2A1	7	144015510	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	30496678	144015510	15123153	25	18920											
GIMAP1	170575	broad.mit.edu	37	chr7	150417468	150417468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttgggtcggttcaccGcccaggaccagcaggcggtg	6	6	15	14	3	1	0	1	0	0	0	2	1	1	1	4	5	1	3	4	5	0	2	rs374968861		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:150417468G>A	ENST00000307194.5	+	3	516	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	126	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.A126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGTTCACCGCCCAGGACCA	0.637																																						uc003whq.3																			1	Substitution - Missense(1)	p.A126T(1)	large_intestine(1)								c.(376-378)Gcc>Acc		Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	46	45	45		376,376	-4.7	0	7		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GIMAP1,GIMAP1-GIMAP5	NM_001199577.1,NM_130759.3	58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	126/512,126/307	150417468	2,13004	2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417468G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.376G>A	7.37:g.150417468G>A	ENSP00000302833:p.Ala126Thr					GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.A126T	p.A126T	NM_130759	NP_570115					2	516	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.376G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183215	0.21870	2.27E-4	1.16E-4	ENSG00000213203	ENST00000307194	T	0.61742	0.08	4.72	-4.65	0.03339	AIG1 (1);	3.346840	0.01980	U	0.044724	T	0.37237	0.0996	N	0.16266	0.395	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.13176	-1.0519	10	0.24483	T	0.36	.	6.2026	0.20585	0.5487:0.2703:0.1809:0.0	.	126	Q8WWP7	GIMA1_HUMAN	T	126	ENSP00000302833:A126T	ENSP00000302833:A126T	A	+	1	0	GIMAP1	150048401	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	-0.026000	0.12392	-0.826000	0.04284	-0.751000	0.03497	GCC		0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		A	150417468	G	A	150417468	3	1	265	1	0	0	0	0	1	0	0	0	6379	1087	38	1	382	1	GIMAP1	7	150417468	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	6401958	150417468	8721195	26	18921											
FAM110B	90362	broad.mit.edu	37	chr8	59059573	59059573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctccagcggtctaagtcaGacttgagtgacagatatttc	10	11	9	11	1	2	4	1	2	1	2	4	4	3	4	2	1	1	0	2	1	2	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:59059573G>C	ENST00000361488.3	+	5	1664	c.784G>C	c.(784-786)Gac>Cac	p.D262H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	262						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562																																						uc022auu.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(784-786)Gac>Cac		Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.							95	103	100					8																	59059573		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059573G>C	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.784G>C	8.37:g.59059573G>C	ENSP00000355204:p.Asp262His					FAM110B_uc003xtj.1_Missense_Mutation_p.D262H	p.D262H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			0	784	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	262					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.784G>C	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033081	0.75504	.	.	ENSG00000169122	ENST00000361488	T	0.50813	0.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74728	-0.3567	9	.	.	.	-28.2133	19.4917	0.95052	0.0:0.0:1.0:0.0	.	262	Q8TC76	F110B_HUMAN	H	262	ENSP00000355204:D262H	.	D	+	1	0	FAM110B	59222127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.770000	0.98971	2.580000	0.87095	0.561000	0.74099	GAC		0.562	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		C	59059573	G	C	59059573	3	2	265	1	0	0	0	0	1	0	0	0	5397	942	33	5	786	5	FAM110B	8	59059573	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		59059573	87304449	27	18922											
ZFHX4	79776	broad.mit.edu	37	chr8	77768255	77768255	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctccaaacagcacatttCaaaagtgagggagaccgttg	13	10	9	9	1	2	2	1	1	1	1	3	3	2	2	2	1	2	2	2	1	3	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:77768255C>G	ENST00000521891.2	+	10	9546	c.9098C>G	c.(9097-9099)tCa>tGa	p.S3033*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S3007*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S2988*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S2988*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2988			V -> G (in dbSNP:rs16939380).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9097-9099)tCa>tGa		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							66	66	66					8																	77768255		1959	4144	6103	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768255C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9098C>G	8.37:g.77768255C>G	ENSP00000430497:p.Ser3033*	HNSCC(33;0.089)				ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	p.S3033*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	9485	+			2988		V -> G (in dbSNP:rs16939380).			G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.9098C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	51	18.191760	0.99901	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.33	4.46	0.54185	.	0.204155	0.24492	U	0.038046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.2922	0.43603	0.0:0.8508:0.0:0.1492	.	.	.	.	X	3033;3017;2988;2988;3007	.	ENSP00000050961:S2988X	S	+	2	0	ZFHX4	77930810	0.998000	0.40836	0.976000	0.42696	0.972000	0.66771	4.678000	0.61641	1.491000	0.48482	0.655000	0.94253	TCA		0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77768255	C	G	77768255	4	3	265	1	0	0	0	0	0	1	0	0	17632	838	29	5	9132	5	ZFHX4	8	77768255	Nonsense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	18708682	77768255	68595767	28	18923											
FAM83H	286077	broad.mit.edu	37	chr8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggcccagtgacagaCgccgcgggctctcgggttgg	5	6	15	15	4	1	2	0	1	1	1	2	2	1	2	3	4	0	2	3	4	0	1	rs572494015		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:144808629C>T	ENST00000388913.3	-	5	3127	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1001					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													c|||	1	0.000199681	8e-04	0	5008	,	,		13490	0		0	False		,,,				2504	0					uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3001-3003)cGt>cAt		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							9	13	12					8																	144808629		1979	4119	6098	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808629C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3002G>A	8.37:g.144808629C>T	ENSP00000373565:p.Arg1001His						p.R1001H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	3071	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1001					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3002G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	11.91	1.780065	0.31502	.	.	ENSG00000180921	ENST00000388913	T	0.16597	2.33	5.01	1.1	0.20463	.	3.864760	0.00897	N	0.002301	T	0.14313	0.0346	L	0.29908	0.895	0.09310	N	1	D	0.53151	0.958	B	0.38106	0.265	T	0.40117	-0.9580	10	0.62326	D	0.03	.	9.4019	0.38437	0.0:0.6975:0.0:0.3025	.	1001	Q6ZRV2	FA83H_HUMAN	H	1001	ENSP00000373565:R1001H	ENSP00000373565:R1001H	R	-	2	0	FAM83H	144880617	0.000000	0.05858	0.801000	0.32222	0.017000	0.09413	0.699000	0.25586	0.519000	0.28406	-0.273000	0.10243	CGT		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144808629	C	T	144808629	3	4	265	1	0	0	0	0	1	0	0	0	5640	536	19	1	541	1	FAM83H	8	144808629	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	67040374	144808629	1555393	29	18924											
PIP5K1B	8395	broad.mit.edu	37	chr9	71509330	71509330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatcaggaggcattaatAtcaggattgtggtgatgaac	13	11	12	5	0	2	2	2	2	0	0	2	4	2	4	0	4	2	2	0	4	4	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:71509330A>G	ENST00000265382.3	+	8	852	c.547A>G	c.(547-549)Atc>Gtc	p.I183V	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I183V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	183	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGGCATTAATATCAGGATTGT	0.373																																						uc004agu.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(547-549)Atc>Gtc		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.							88	82	84					9																	71509330		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71509330A>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.547A>G	9.37:g.71509330A>G	ENSP00000265382:p.Ile183Val					PIP5K1B_uc011lrq.2_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.3_Non-coding_Transcript	p.I183V	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	7	852	+			183			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.547A>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159529	0.57368	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.29917	1.55;1.55	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.49640	1.575	0.58432	D	0.999999	B	0.31790	0.34	B	0.33392	0.163	T	0.04752	-1.0929	10	0.33141	T	0.24	-7.462	16.1966	0.82029	1.0:0.0:0.0:0.0	.	183	O14986	PI51B_HUMAN	V	183;183;183;130	ENSP00000438082:I183V;ENSP00000265382:I183V	ENSP00000265382:I183V	I	+	1	0	PIP5K1B	70699150	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.354000	0.79424	2.232000	0.73038	0.528000	0.53228	ATC		0.373	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		G	71509330	A	G	71509330	3	3	265	1	0	0	0	0	1	0	0	0	11940	449	16	4	565	4	PIP5K1B	9	71509330	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		71509330	69704101	30	18925											
C9orf79	286234	broad.mit.edu	37	chr9	90501883	90501883	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcccaggagctttccttcctCcatccctgcacccagcagat	7	10	6	18	0	0	1	0	0	0	1	5	2	5	2	6	1	3	3	6	1	0	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:90501883C>G	ENST00000325643.5	+	4	2547	c.2481C>G	c.(2479-2481)ctC>ctG	p.L827L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	827					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTTCCTTCCTCCATCCCTGCA	0.562																																						uc004app.4																			0											c.(2479-2481)ctC>ctG		Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.							56	60	59					9																	90501883		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90501883C>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2481C>G	9.37:g.90501883C>G						FAM75E1_uc004apo.1_Silent_p.L639L	p.L827L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			3	2516	+			827					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2481C>G	CCDS6676.1																																																																																				0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90501883	C	G	90501883	2	3	265	1	0	0	0	0	0	0	0	1	2497	842	30	5		5	C9orf79	9	90501883	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	18992553	90501883	50711548	31	18926											
PTEN	5728	broad.mit.edu	37	chr10	89720805	89720808	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															caaggaatatctagtacttaCtttaacaaaaaatgatcttg																								rs398123330		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:89720805_89720808delCTTT	ENST00000371953.3	+	8	2313_2316	c.956_959delCTTT	c.(955-960)actttafs	p.TL319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T319fs*1(24)|p.L318fs*2(15)|p.T319fs*6(6)|p.R55fs*1(5)|p.T319fs*24(4)|p.L320*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L320V(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAAAT	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		110	Deletion - Frameshift(54)|Whole gene deletion(37)|Insertion - Frameshift(7)|Deletion - In frame(6)|Substitution - Nonsense(3)|Unknown(2)|Substitution - Missense(1)	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.L320*(6)|p.R55fs*1(5)|p.T319del(4)|p.L320V(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(1)|p.L318fs*3(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T318fs*2(1)	central_nervous_system(29)|endometrium(29)|prostate(17)|skin(8)|lung(5)|breast(5)|ovary(5)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033671|CM992427	PTEN	M		c.(955-960)actttafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720805_89720808delCTTT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.956_959delCTTT	10.37:g.89720805_89720808delCTTT	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T319fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1988_1991	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.956_959delCTTT	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720808	CTTT	-	89720805	7	5	265	1	0	1	0	1	0	0	0	0	12738	565	20	0	986	0	PTEN	10	89720805	Frame_Shift_Del	DEL	CTTT	TCGA-76-4935-01A-01D-1486-08		89720805	45813942	32	18927											
C10orf12	26148	broad.mit.edu	37	chr10	98743678	98743678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaaaagcaagaaaaGgtcacggaaatgtaggagtt	17	8	13	3	1	1	1	1	0	0	1	1	5	1	4	0	4	1	3	0	4	7	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:98743678G>T	ENST00000286067.2	+	1	2638	c.2531G>T	c.(2530-2532)aGg>aTg	p.R844M		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	844										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCAAGAAAAGGTCACGGAAA	0.393																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2530-2532)aGg>aTg		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							79	74	76					10																	98743678		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743678G>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2531G>T	10.37:g.98743678G>T	ENSP00000286067:p.Arg844Met						p.R844M	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	2638	+		Colorectal(252;0.172)	844					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2531G>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258890	0.39896	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09538	2.97	5.95	5.95	0.96441	.	0.276332	0.33023	N	0.005362	T	0.32882	0.0844	L	0.56769	1.78	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.00118	-1.2033	10	0.48119	T	0.1	-13.5885	20.3927	0.98949	0.0:0.0:1.0:0.0	.	844	Q8N655	CJ012_HUMAN	M	844;678	ENSP00000286067:R844M	ENSP00000286067:R844M	R	+	2	0	C10orf12	98733668	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	9.450000	0.97607	2.833000	0.97629	0.655000	0.94253	AGG		0.393	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		T	98743678	G	T	98743678	3	4	265	1	0	0	0	0	1	0	0	0	1589	1000	35	5	2533	5	C10orf12	10	98743678	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	9022873	98743678	36791069	33	18928											
CTBP2	1488	broad.mit.edu	37	chr10	126727602	126727602	+	Nonsense_Mutation	SNP	T	T	A																															caatcgctgtctcttgacttTgtgcttatccacaagggcca																								rs76555439		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727602T>A	ENST00000337195.5	-	3	421	c.22A>T	c.(22-24)Aaa>Taa	p.K8*	CTBP2_ENST00000411419.2_Nonsense_Mutation_p.K8*|CTBP2_ENST00000494626.2_Nonsense_Mutation_p.K8*|CTBP2_ENST00000531469.1_Nonsense_Mutation_p.K8*|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	8					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTTGACTTTGTGCTTATCC	0.453																																						uc009yak.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(22-24)Aaa>Taa		Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.							132	121	125					10																	126727602		2203	4300	6503	SO:0001587	stop_gained	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727602T>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.22A>T	10.37:g.126727602T>A	ENSP00000338615:p.Lys8*					CTBP2_uc009yal.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.4_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.4_Nonsense_Mutation_p.K8*	p.K8*	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	2	309	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	8					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Nonsense_Mutation	SNP	ENST00000337195.5	37	c.22A>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	37	6.129585	0.97310	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9484	0.64101	0.0:0.0:0.0:1.0	rs3208568	.	.	.	X	8	.	ENSP00000338615:K8X	K	-	1	0	CTBP2	126717592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	AAA		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		A	126727602	T	A	126727602	4	1	265	1	0	0	0	0	0	1	0	0	3998	1821	63	5	3033	5	CTBP2	10	126727602	Nonsense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	27983924	126727602	8807145	34	18929	23	2									
CTBP2	1488	broad.mit.edu	37	chr10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C																															atcgctgtctcttgactttgTgcttatccacaagggccatt																								rs78849795		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453																																						uc009yak.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(19-21)cAc>cGc		Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.							131	120	124					10																	126727604		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727604T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.20A>G	10.37:g.126727604T>C	ENSP00000338615:p.His7Arg					CTBP2_uc009yal.3_Missense_Mutation_p.H7R|CTBP2_uc001lif.4_Missense_Mutation_p.H7R|CTBP2_uc001lih.4_Missense_Mutation_p.H7R	p.H7R	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	2	307	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	7					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.20A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123856	0.37436	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.28	5.28	0.74379	.	.	.	.	.	T	0.75361	0.3839	L	0.51422	1.61	0.26416	N	0.976171	B	0.02656	0.0	B	0.04013	0.001	T	0.60944	-0.7162	9	0.19147	T	0.46	.	13.9484	0.64101	0.0:0.0:0.0:1.0	rs3208567	7	P56545	CTBP2_HUMAN	R	7	ENSP00000338615:H7R;ENSP00000434630:H7R;ENSP00000436285:H7R;ENSP00000410474:H7R	ENSP00000338615:H7R	H	-	2	0	CTBP2	126717594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	CAC		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		C	126727604	T	C	126727604	3	2	265	1	0	0	0	0	1	0	0	0	3998	1696	59	4	3035	4	CTBP2	10	126727604	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	2	126727604	8807143	35	18930	23	2									
AMPD3	272	broad.mit.edu	37	chr11	10514962	10514962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcttcatcaagcacAcataccagacggagcctgac	11	7	9	14	2	2	2	2	1	0	1	2	3	2	3	2	1	5	3	2	1	2	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:10514962A>T	ENST00000396554.3	+	7	1374	c.1033A>T	c.(1033-1035)Aca>Tca	p.T345S	AMPD3_ENST00000444303.2_Missense_Mutation_p.T177S	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	336					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCAAGCACACATACCAGAC	0.612																																						uc001min.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1033-1035)Aca>Tca		Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.							111	112	112					11																	10514962		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10514962A>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1033A>T	11.37:g.10514962A>T	ENSP00000379802:p.Thr345Ser					AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.T336S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	p.T345S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	6	1378	+			336					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1033A>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563643	0.65651	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.44	5.44	0.79542	Adenosine/AMP deaminase (1);	0.047621	0.85682	D	0.000000	D	0.90428	0.7003	N	0.25789	0.76	0.53005	D	0.99996	B;B;B	0.22604	0.072;0.042;0.072	B;B;B	0.25987	0.047;0.065;0.047	D	0.87050	0.2146	10	0.33141	T	0.24	-15.5234	15.4924	0.75619	1.0:0.0:0.0:0.0	.	343;336;345	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	S	177;345;336;343;336	ENSP00000396000:T177S;ENSP00000379802:T345S;ENSP00000379801:T336S;ENSP00000436987:T343S;ENSP00000431648:T336S	ENSP00000379801:T336S	T	+	1	0	AMPD3	10471538	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.139000	0.64801	2.061000	0.61500	0.459000	0.35465	ACA		0.612	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		T	10514962	A	T	10514962	3	4	265	1	0	0	0	0	1	0	0	0	587	159	6	5	1079	5	AMPD3	11	10514962	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		10514962	124491554	36	18931											
VWA5A	4013	broad.mit.edu	37	chr11	124007318	124007318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagtatgcctcaaatataCactccagggcaagacttttg	14	10	8	9	0	1	2	1	0	0	2	2	2	2	2	2	1	2	2	2	1	6	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:124007318C>G	ENST00000456829.2	+	14	1813	c.1562C>G	c.(1561-1563)aCa>aGa	p.T521R	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.T521R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	521										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCAAATATACACTCCAGGGC	0.428																																						uc001pzu.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1561-1563)aCa>aGa		Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.							189	172	178					11																	124007318		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007318C>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1562C>G	11.37:g.124007318C>G	ENSP00000407726:p.Thr521Arg					VWA5A_uc001pzt.3_Missense_Mutation_p.T521R	p.T521R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN			13	1771	+			521					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1562C>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388804	0.11581	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04194	3.68;3.68	5.49	-1.16	0.09678	.	0.708725	0.14656	N	0.306292	T	0.05868	0.0153	M	0.64997	1.995	0.09310	N	0.999999	P	0.40050	0.7	B	0.42062	0.374	T	0.36696	-0.9737	10	0.11794	T	0.64	0.1682	7.7831	0.29077	0.6261:0.2685:0.0:0.1054	.	521	O00534	VMA5A_HUMAN	R	521	ENSP00000407726:T521R;ENSP00000376504:T521R	ENSP00000376504:T521R	T	+	2	0	VWA5A	123512528	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.927000	0.03984	-0.546000	0.06216	0.650000	0.86243	ACA		0.428	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		G	124007318	C	G	124007318	3	3	265	1	0	0	0	0	1	0	0	0	17239	478	17	5	1612	5	VWA5A	11	124007318	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	113492356	124007318	10999198	37	18932											
DYRK4	8798	broad.mit.edu	37	chr12	4721722	4721722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcagatgggaaccttctCttcgcatgaccccggaccag	8	8	12	13	2	1	2	0	1	1	1	3	4	1	4	4	3	2	2	4	3	1	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:4721722C>T	ENST00000540757.2	+	12	1319	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	DYRK4_ENST00000545342.1_Missense_Mutation_p.L24F|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Missense_Mutation_p.L387F|DYRK4_ENST00000543431.1_Missense_Mutation_p.L387F	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAACCTTCTCTTCGCATGAC	0.448																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1504-1506)Ctt>Ttt		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							71	70	70					12																	4721722		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4721722C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1159C>T	12.37:g.4721722C>T	ENSP00000441755:p.Leu387Phe					DYRK4_uc001qmx.3_Missense_Mutation_p.L387F|DYRK4_uc001qmy.2_Missense_Mutation_p.L387F|DYRK4_uc021qtq.1_Missense_Mutation_p.L241F|DYRK4_uc001qmz.2_Missense_Mutation_p.L101F|DYRK4_uc001qna.2_Missense_Mutation_p.L24F|DYRK4_uc010ser.2_Missense_Mutation_p.L24F	p.L502F	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1546	+			387					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1504C>T	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.594978|3.594978	0.66219|0.66219	.|.	.|.	ENSG00000010219|ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342|ENST00000544671	T;T;T;T;T|T	0.74209|0.74842	-0.18;-0.18;-0.18;-0.18;-0.82|-0.88	5.81|5.81	4.92|4.92	0.64577|0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.127255|.	0.52532|.	D|.	0.000061|.	T|T	0.68531|0.68531	0.3011|0.3011	L|L	0.31157|0.31157	0.91|0.91	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.89917|.	1.0;0.998;0.616;0.667|.	D;D;B;B|.	0.74023|.	0.974;0.982;0.236;0.348|.	T|T	0.65253|0.65253	-0.6213|-0.6213	10|6	0.56958|.	D|.	0.05|.	.|.	11.5912|11.5912	0.50947|0.50947	0.0:0.8553:0.0:0.1447|0.0:0.8553:0.0:0.1447	.|.	502;101;387;387|.	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20|.	.;.;.;DYRK4_HUMAN|.	F|F	502;387;387;387;24|48	ENSP00000437534:L502F;ENSP00000441755:L387F;ENSP00000010132:L387F;ENSP00000439697:L387F;ENSP00000446005:L24F|ENSP00000438769:S48F	ENSP00000010132:L387F|.	L|S	+|+	1|2	0|0	DYRK4|DYRK4	4591983|4591983	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.392000|0.392000	0.20801|0.20801	1.462000|1.462000	0.47948|0.47948	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.448	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			T	4721722	C	T	4721722	3	4	265	1	0	0	0	0	1	0	0	0	4858	913	32	3	1197	3	DYRK4	12	4721722	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		4721722	129130173	38	18933											
ABCC9	10060	broad.mit.edu	37	chr12	21997717	21997717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccttattggtccaaggaTtatcttattgagaaggttgt	10	17	9	5	0	1	1	0	1	1	1	2	3	2	2	2	3	1	1	2	3	6	7			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:21997717T>C	ENST00000261201.4	-	25	3228	c.3229A>G	c.(3229-3231)Atc>Gtc	p.I1077V	ABCC9_ENST00000261200.4_Missense_Mutation_p.I1077V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.I1041V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1077	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGTCCAAGGATTATCTTATTG	0.368																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3229-3231)Atc>Gtc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						172	175	174					12																	21997717		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997717T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3229A>G	12.37:g.21997717T>C	ENSP00000261201:p.Ile1077Val					ABCC9_uc001rfi.1_Missense_Mutation_p.I1077V	p.I1077V	NM_020297	NP_064693	O60706	ABCC9_HUMAN			24	3249	-			1077			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3229A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895996	0.33442	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.44	5.44	0.79542	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.179489	0.47455	D	0.000222	D	0.84179	0.5415	N	0.20685	0.6	0.49483	D	0.999794	B;P	0.34412	0.349;0.453	B;B	0.35510	0.204;0.192	T	0.82810	-0.0273	10	0.28530	T	0.3	-17.6174	15.4994	0.75684	0.0:0.0:0.0:1.0	.	1077;1077	O60706;O60706-2	ABCC9_HUMAN;.	V	1077;704;1077;1041	ENSP00000261200:I1077V;ENSP00000440521:I704V;ENSP00000261201:I1077V;ENSP00000261202:I1041V	ENSP00000261200:I1077V	I	-	1	0	ABCC9	21888984	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.924000	0.63418	2.059000	0.61396	0.528000	0.53228	ATC		0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		C	21997717	T	C	21997717	3	2	265	1	0	0	0	0	1	0	0	0	59	1493	52	4	1618	4	ABCC9	12	21997717	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	17275995	21997717	111854178	39	18934											
HOXC11	3227	broad.mit.edu	37	chr12	54367099	54367099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgcagatttcggcgagcGagggagctgcgcctccaacc	7	5	16	13	5	0	1	0	0	0	1	2	4	1	2	3	3	4	2	3	3	1	1	rs199765463		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:54367099G>A	ENST00000546378.1	+	1	190	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	HOXC11_ENST00000243082.4_Missense_Mutation_p.R25Q|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	25					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						TTCGGCGAGCGAGGGAGCTGC	0.617			T	NUP98	AML								G|||	1	0.000199681	0	0	5008	,	,		16514	0.001		0	False		,,,				2504	0					uc001sem.3				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(73-75)cGa>cAa		Homo sapiens homeobox C11 (HOXC11), mRNA.							86	88	87					12																	54367099		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367099G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.74G>A	12.37:g.54367099G>A	ENSP00000446680:p.Arg25Gln						p.R25Q	NM_014212	NP_055027	O43248	HXC11_HUMAN			0	190	+			25					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.74G>A	CCDS8867.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.60	3.858328	0.71834	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	D;T	0.92099	-2.97;1.46	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	L	0.54323	1.7	0.45747	D	0.998646	D	0.89917	1.0	D	0.76575	0.988	D	0.95012	0.8152	10	0.66056	D	0.02	.	15.8378	0.78811	0.0:0.0:1.0:0.0	.	25	O43248	HXC11_HUMAN	Q	25	ENSP00000446680:R25Q;ENSP00000243082:R25Q	ENSP00000243082:R25Q	R	+	2	0	HOXC11	52653366	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.227000	0.95236	2.330000	0.79161	0.561000	0.74099	CGA		0.617	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			A	54367099	G	A	54367099	3	1	265	1	0	0	0	0	1	0	0	0	7310	1058	37	2	76	2	HOXC11	12	54367099	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	32369382	54367099	79484796	40	18935											
TMTC2	160335	broad.mit.edu	37	chr12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggacagcctcctcacccGcactctcaccttcttctact	6	12	4	19	2	4	0	2	0	3	0	7	1	5	1	4	1	2	1	4	1	1	4	rs559369404		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:83289748G>A	ENST00000321196.3	+	3	1513	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H|TMTC2_ENST00000549919.1_Missense_Mutation_p.R263H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	269					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCCTCACCCGCACTCTCACC	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		16768	0		0	False		,,,				2504	0					uc001szt.3																			0		p.R269S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(805-807)cGc>cAc		Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.							138	126	130					12																	83289748		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289748G>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.806G>A	12.37:g.83289748G>A	ENSP00000322300:p.Arg269His					TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.2_Missense_Mutation_p.R24H	p.R269H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	1238	+			269					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.806G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200994	0.79015	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61859	0.07;0.07;0.07	5.84	5.84	0.93424	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87587	0.2488	10	0.87932	D	0	-18.4524	20.139	0.98050	0.0:0.0:1.0:0.0	.	269;24;269	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	H	269;269;263;24	ENSP00000322300:R269H;ENSP00000448292:R269H;ENSP00000447609:R263H	ENSP00000322300:R269H	R	+	2	0	TMTC2	81813879	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.476000	0.97823	2.764000	0.94973	0.655000	0.94253	CGC		0.527	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		A	83289748	G	A	83289748	3	1	265	1	0	0	0	0	1	0	0	0	16258	1087	38	1	816	1	TMTC2	12	83289748	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	28922649	83289748	50562147	41	18936											
HNF1A	6927	broad.mit.edu	37	chr12	121437175	121437175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcgccctggccagcCtcacgcccaccaagcaggta	9	4	10	18	2	1	1	1	1	0	0	1	1	1	1	6	2	3	2	6	2	2	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:121437175C>T	ENST00000257555.6	+	8	1832	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HNF1A_ENST00000544413.1_Missense_Mutation_p.L536F|HNF1A_ENST00000541395.1_Missense_Mutation_p.L536F|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	536					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGCCAGCCTCACGCCCAC	0.672									Hepatic Adenoma, Familial Clustering of																													uc001tzg.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1606-1608)Ctc>Ttc		Homo sapiens HNF1 homeobox A (HNF1A), mRNA.							83	85	84					12																	121437175		2203	4300	6503	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437175C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1606C>T	12.37:g.121437175C>T	ENSP00000257555:p.Leu536Phe					HNF1A_uc010szn.2_Missense_Mutation_p.L536F|HNF1A_uc021rfa.1_Missense_Mutation_p.L536F|HNF1A_uc021rfb.1_Missense_Mutation_p.L408F|HNF1A_uc021rfc.1_Non-coding_Transcript	p.L536F	NM_000545	NP_000536	P20823	HNF1A_HUMAN			7	1629	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		536					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1606C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166449	0.78339	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.98455	-4.94;-4.94;-4.94	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.49916	D	0.000131	D	0.98441	0.9481	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.70935	0.962;0.971	D	0.99734	1.1013	10	0.59425	D	0.04	-26.8716	18.4622	0.90743	0.0:1.0:0.0:0.0	.	536;536	F5H0K0;P20823	.;HNF1A_HUMAN	F	536;428;536;357;536;536	ENSP00000257555:L536F;ENSP00000443112:L536F;ENSP00000438804:L536F	ENSP00000257555:L536F	L	+	1	0	HNF1A	119921558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.011000	0.49567	2.601000	0.87937	0.650000	0.86243	CTC		0.672	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		T	121437175	C	T	121437175	3	4	265	1	0	0	0	0	1	0	0	0	7251	681	24	3	1636	3	HNF1A	12	121437175	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	38147427	121437175	12414720	42	18937											
DZIP1	22873	broad.mit.edu	37	chr13	96234520	96234520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcgctccaatcagtcaCagttactaagctgcttttta	10	14	7	10	1	2	0	2	0	0	0	4	0	3	0	1	0	3	4	1	0	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr13:96234520C>T	ENST00000376829.2	-	23	3423	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	DZIP1_ENST00000347108.3_Missense_Mutation_p.V858M|DZIP1_ENST00000361396.2_Missense_Mutation_p.V839M|DZIP1_ENST00000361156.3_Missense_Mutation_p.V839M	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	858					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATCAGTCACAGTTACTAAG	0.408																																						uc001vmk.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2572-2574)Gtg>Atg		Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.							243	203	217					13																	96234520		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96234520C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2572G>A	13.37:g.96234520C>T	ENSP00000366025:p.Val858Met					DZIP1_uc001vmj.3_Missense_Mutation_p.V334M|DZIP1_uc001vml.3_Missense_Mutation_p.V839M|DZIP1_uc001vmm.3_Non-coding_Transcript	p.V858M	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		22	3424	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		858					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2572G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242825	0.58995	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.24	5.24	0.73138	.	0.230381	0.35555	N	0.003135	T	0.19886	0.0478	L	0.49455	1.56	0.46044	D	0.998832	P;P	0.48294	0.901;0.908	B;B	0.40256	0.324;0.173	T	0.01848	-1.1261	10	0.72032	D	0.01	-17.5918	17.3858	0.87415	0.0:1.0:0.0:0.0	.	839;858	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	M	858;839;839;858	ENSP00000257312:V858M;ENSP00000355018:V839M;ENSP00000355175:V839M;ENSP00000366025:V858M	ENSP00000257312:V858M	V	-	1	0	DZIP1	95032521	0.996000	0.38824	0.987000	0.45799	0.939000	0.58152	2.068000	0.41471	2.605000	0.88082	0.591000	0.81541	GTG		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		T	96234520	C	T	96234520	3	4	265	1	0	0	0	0	1	0	0	0	4863	478	17	3	35	3	DZIP1	13	96234520	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		96234520	18935358	43	18938											
OR4K5	79317	broad.mit.edu	37	chr14	20388930	20388930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttctgataccagcctGcactcccctatgtactttct	7	14	6	14	0	2	2	0	2	2	0	3	2	3	2	4	0	4	2	4	0	3	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:20388930G>T	ENST00000315915.4	+	1	190	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACCAGCCTGCACTCCCCTA	0.408																																						uc010tkw.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(163-165)ctG>ctT		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							231	243	239					14																	20388930		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388930G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.165G>T	14.37:g.20388930G>T							p.L55L	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	165	+	all_cancers(95;0.00108)		55					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.165G>T	CCDS32024.1																																																																																				0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		T	20388930	G	T	20388930	2	4	265	1	0	0	0	0	0	0	0	1	11073	1306	46	5		5	OR4K5	14	20388930	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		20388930	86960610	44	18939											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274502	68274502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccagcagggcctgtgctgGctggggagactgcctcagga	6	7	16	12	0	1	1	1	0	0	1	2	3	2	2	3	5	3	3	3	5	0	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:68274502G>A	ENST00000347230.4	-	5	637	c.499C>T	c.(499-501)Cca>Tca	p.P167S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P167S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	167					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTGTGCTGGCTGGGGAGAC	0.607																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(499-501)Cca>Tca		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							106	109	108					14																	68274502		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274502G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.499C>T	14.37:g.68274502G>A	ENSP00000251119:p.Pro167Ser					ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.2_Missense_Mutation_p.P167S	p.P167S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	638	-			167					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.499C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872002	0.33069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26223	1.9;1.75	5.98	3.06	0.35304	.	0.342907	0.30911	N	0.008627	T	0.20333	0.0489	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20887	0.01;0.006;0.049	B;B;B	0.14023	0.008;0.005;0.01	T	0.15009	-1.0452	10	0.38643	T	0.18	-1.2784	6.592	0.22651	0.0674:0.0966:0.6079:0.2281	.	167;167;167	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	S	167	ENSP00000251119:P167S;ENSP00000450603:P167S	ENSP00000251119:P167S	P	-	1	0	ZFYVE26	67344255	0.077000	0.21312	0.694000	0.30210	0.827000	0.46813	1.232000	0.32636	0.853000	0.35312	0.591000	0.81541	CCA		0.607	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68274502	G	A	68274502	3	1	265	1	0	0	0	0	1	0	0	0	17665	1203	42	3	7272	3	ZFYVE26	14	68274502	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	47885572	68274502	39075038	45	18940											
PSEN1	5663	broad.mit.edu	37	chr14	73678621	73678621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaggaactttccagcaGtatcctcgctggtgaagacc	9	10	10	12	1	0	2	0	1	0	1	4	3	3	3	4	2	2	3	4	2	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:73678621G>C	ENST00000324501.5	+	10	1372	c.1100G>C	c.(1099-1101)aGt>aCt	p.S367T	PSEN1_ENST00000406768.1_Missense_Mutation_p.S275T|PSEN1_ENST00000557511.1_Intron|PSEN1_ENST00000394164.1_Missense_Mutation_p.S363T|PSEN1_ENST00000357710.4_Missense_Mutation_p.S363T|PSEN1_ENST00000261970.3_Intron|PSEN1_ENST00000344094.3_3'UTR	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	367	Required for interaction with CTNNB1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTTCCAGCAGTATCCTCGCT	0.493																																						uc001xnr.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18						c.(1099-1101)aGt>aCt		Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.							97	84	88					14																	73678621		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73678621G>C	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1100G>C	14.37:g.73678621G>C	ENSP00000326366:p.Ser367Thr					PSEN1_uc001xnv.3_Missense_Mutation_p.S363T|PSEN1_uc010ark.3_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript	p.S367T	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	9	1384	+			367			Required for interaction with CTNNB1.		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.1100G>C	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908782	0.02434	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000394164;ENST00000406768	D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1	6.07	-1.43	0.08884	.	0.457213	0.29053	N	0.013287	D	0.96614	0.8895	N	0.20574	0.59	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.17979	0.003;0.02	D	0.93950	0.7231	10	0.11182	T	0.66	-0.2661	6.4559	0.21930	0.5203:0.249:0.2307:0.0	.	363;367	P49768-2;P49768	.;PSN1_HUMAN	T	367;363;363;275	ENSP00000326366:S367T;ENSP00000350342:S363T;ENSP00000377719:S363T;ENSP00000385948:S275T	ENSP00000326366:S367T	S	+	2	0	PSEN1	72748374	0.474000	0.25886	0.229000	0.23960	0.006000	0.05464	0.546000	0.23284	-0.239000	0.09710	-0.136000	0.14681	AGT		0.493	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			C	73678621	G	C	73678621	3	2	265	1	0	0	0	0	1	0	0	0	12650	1029	36	5	1130	5	PSEN1	14	73678621	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	5404119	73678621	33670919	46	18941											
NOX5	79400	broad.mit.edu	37	chr15	69328195	69328195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacacggttcggcctccccGacaggtgtcgctctgctgct	4	10	12	15	4	1	0	0	0	1	0	4	1	2	0	3	3	3	5	3	3	1	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:69328195G>A	ENST00000388866.3	+	7	1148	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	NOX5_ENST00000260364.5_Silent_p.P351P|NOX5_ENST00000455873.3_Silent_p.P334P|NOX5_ENST00000448182.3_Silent_p.P323P|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Silent_p.P341P	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	369	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.P351P(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGGCCTCCCCGACAGGTGTCG	0.632																																						uc002ars.2																			1	Substitution - coding silent(1)	p.P351P(1)|p.S369S(1)	breast(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1105-1107)ccG>ccA		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							128	107	114					15																	69328195		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328195G>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1107G>A	15.37:g.69328195G>A						MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.P323P|NOX5_uc002arp.2_Silent_p.P351P|NOX5_uc010bid.2_Silent_p.P334P|NOX5_uc010bie.2_Silent_p.P169P|NOX5_uc002arr.2_Silent_p.P341P|NOX5_uc010bif.2_Non-coding_Transcript	p.P369P	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	1148	+			369			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1107G>A	CCDS32276.2																																																																																				0.632	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		A	69328195	G	A	69328195	2	1	265	1	0	0	0	0	0	0	0	1	10559	1045	37	2		2	NOX5	15	69328195	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		69328195	33203197	47	18942											
OTOA	146183	broad.mit.edu	37	chr16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcctgagaagtgccGtctcccagtatgtatccgac	8	9	11	13	3	1	1	0	1	1	1	4	3	3	1	4	1	1	3	4	1	3	2	rs572283930		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:21726417G>A	ENST00000286149.4	+	13	1475	c.1474G>A	c.(1474-1476)Gtc>Atc	p.V492I	OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000388958.3_Missense_Mutation_p.V478I			Q7RTW8	OTOAN_HUMAN	otoancorin	492					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.V478I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													G|||	1	0.000199681	0	0	5008	,	,		22005	0		0	False		,,,				2504	0.001					uc002djh.3																			1	Substitution - Missense(1)	p.V478I(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1432-1434)Gtc>Atc		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							232	210	217					16																	21726417		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726417G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1474G>A	16.37:g.21726417G>A	ENSP00000286149:p.Val492Ile					LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V399I|OTOA_uc002dji.3_Missense_Mutation_p.V154I|OTOA_uc010vbk.2_Missense_Mutation_p.V126I	p.V478I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1433	+			492					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1432G>A		.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975420	0.02215	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.66	-11.0	0.00169	.	1.733600	0.03195	N	0.173902	T	0.41373	0.1156	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.14012	0.007;0.007;0.009;0.004	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.44651	-0.9314	10	0.21540	T	0.41	0.534	11.4065	0.49900	0.5645:0.3473:0.0881:0.0	.	492;399;154;478	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	I	478;492;399;154	ENSP00000373610:V478I;ENSP00000286149:V492I;ENSP00000373608:V399I;ENSP00000373609:V154I	ENSP00000286149:V492I	V	+	1	0	OTOA	21633918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.881000	0.01626	-1.967000	0.01008	-1.822000	0.00598	GTC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			A	21726417	G	A	21726417	3	1	265	1	0	0	0	0	1	0	0	0	11302	1145	40	1	1528	1	OTOA	16	21726417	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		21726417	68628336	48	18943											
HERPUD1	9709	broad.mit.edu	37	chr16	56970643	56970643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggttctaatcggggacaGtatcctgaggattcctcaag	9	11	12	9	1	2	1	1	1	1	0	5	3	4	3	2	4	0	3	2	4	3	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:56970643G>C	ENST00000439977.2	+	4	542	c.345G>C	c.(343-345)caG>caC	p.Q115H	HERPUD1_ENST00000344114.4_Missense_Mutation_p.Q114H|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.Q90H|HERPUD1_ENST00000300302.5_Missense_Mutation_p.Q114H	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	115					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ATCGGGGACAGTATCCTGAGG	0.448			T	ERG	prostate																																	uc002eke.1				Dom	yes		16	16q12.2-q13	9709	T	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(343-345)caG>caC		Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.							134	124	127					16																	56970643		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56970643G>C	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.345G>C	16.37:g.56970643G>C	ENSP00000409555:p.Gln115His					HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	p.Q115H	NM_014685	NP_055500	Q15011	HERP1_HUMAN			3	754	+			115					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.345G>C	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007590	0.75046	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.46451	1.47;0.87	6.16	3.99	0.46301	.	0.536026	0.22078	N	0.064925	T	0.47875	0.1469	L	0.46157	1.445	0.47511	D	0.999442	D;D;D;D;D;D	0.64830	0.991;0.994;0.985;0.958;0.975;0.958	P;P;P;P;P;P	0.62560	0.687;0.904;0.753;0.558;0.8;0.535	T	0.36817	-0.9732	10	0.45353	T	0.12	-21.6	5.8207	0.18526	0.0966:0.0:0.7096:0.1938	.	115;114;115;90;114;115	B4E3N8;Q15011-3;A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;.;.;HERP1_HUMAN	H	114;90;115;114	ENSP00000369118:Q90H;ENSP00000340931:Q114H	ENSP00000300302:Q115H	Q	+	3	2	HERPUD1	55528144	0.360000	0.24964	0.995000	0.50966	0.979000	0.70002	0.858000	0.27845	2.937000	0.99478	0.650000	0.86243	CAG		0.448	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			C	56970643	G	C	56970643	3	2	265	1	0	0	0	0	1	0	0	0	7063	1020	36	5	359	5	HERPUD1	16	56970643	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	35244226	56970643	33384110	49	18944											
ANKFY1	51479	broad.mit.edu	37	chr17	4084568	4084568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgaataagaaagcaggCggtgggctcgttgttttcat	9	11	13	8	3	1	1	1	0	0	1	2	2	1	1	1	3	2	4	1	3	3	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:4084568C>T	ENST00000341657.4	-	16	2256	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A783T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A742T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	741	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGAAAGCAGGCGGTGGGCTCG	0.522																																						uc002fxn.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2347-2349)Gcc>Acc		Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.							55	56	55					17																	4084568		1920	4143	6063	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4084568C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2221G>A	17.37:g.4084568C>T	ENSP00000343362:p.Ala741Thr					ANKFY1_uc002fxo.3_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A683T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A741T	p.A783T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			15	2464	-			741					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2347G>A		.	.	.	.	.	.	.	.	.	.	C	11.97	1.797231	0.31777	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.09	0.339	0.15979	Ankyrin repeat-containing domain (4);	0.175472	0.50627	N	0.000120	T	0.36963	0.0986	L	0.31804	0.96	0.80722	D	1	B;B;B;B	0.18013	0.014;0.009;0.007;0.025	B;B;B;B	0.17433	0.006;0.009;0.011;0.018	T	0.04991	-1.0913	9	0.26408	T	0.33	-2.0987	5.3445	0.16002	0.1367:0.6147:0.0:0.2486	.	683;741;742;783	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	742;683	.	ENSP00000343362:A742T	A	-	1	0	ANKFY1	4031317	0.979000	0.34478	0.235000	0.24058	0.135000	0.20990	2.537000	0.45702	0.113000	0.18004	0.462000	0.41574	GCC		0.522	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		T	4084568	C	T	4084568	3	4	265	1	0	0	0	0	1	0	0	0	626	768	27	1	1328	1	ANKFY1	17	4084568	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		4084568	77110642	50	18945											
USP6	9098	broad.mit.edu	37	chr17	5037255	5037255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgaggacgactctccGgaaccatgtcttctttaggg	8	10	13	10	3	3	1	0	1	3	0	4	5	3	4	2	4	1	0	2	4	2	3	rs138849740	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:5037255G>A	ENST00000574788.1	+	15	2688	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP6_ENST00000250066.6_Missense_Mutation_p.R153Q|USP6_ENST00000332776.4_Missense_Mutation_p.R153Q|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	153	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACGACTCTCCGGAACCATGTC	0.562			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G|||	3	0.000599042	0.0023	0	5008	,	,		18701	0		0	False		,,,				2504	0					uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(457-459)cGg>cAg		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.		G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	190	148	162		458	0.9	0.1	17	dbSNP_134	162	0,8600		0,0,4300	no	missense	USP6	NM_004505.2	43	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	153/1407	5037255	5,13001	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5037255G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.458G>A	17.37:g.5037255G>A	ENSP00000460380:p.Arg153Gln					USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.R214Q|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	p.R153Q	NM_004505	NP_004496	P35125	UBP6_HUMAN			14	2688	+			153			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.458G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682546	0.47991	0.001135	0.0	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.04706	3.57;3.57	0.862	0.862	0.19056	Rab-GAP/TBC domain (4);	0.045961	0.85682	D	0.000000	T	0.11707	0.0285	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.991	D;B	0.65233	0.933;0.38	T	0.02450	-1.1157	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	153;153	B9A6N0;P35125	.;UBP6_HUMAN	Q	153	ENSP00000328010:R153Q;ENSP00000250066:R153Q	ENSP00000250066:R153Q	R	+	2	0	USP6	4977979	1.000000	0.71417	0.055000	0.19348	0.055000	0.15305	5.790000	0.69038	0.132000	0.18615	0.134000	0.15878	CGG		0.562	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5037255	G	A	5037255	3	1	265	1	0	0	0	0	1	0	0	0	17083	1116	39	2	480	2	USP6	17	5037255	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	952687	5037255	76157955	51	18946											
MYH13	8735	broad.mit.edu	37	chr17	10250061	10250061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacccttggacagcacaggCccttcagcatttctgcagaa	10	9	8	14	0	3	1	2	0	1	1	3	2	3	2	2	2	3	3	2	2	1	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:10250061C>T	ENST00000418404.3	-	12	1362	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	MYH13_ENST00000252172.4_Missense_Mutation_p.G400D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	400	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGCACAGGCCCTTCAGCAT	0.458																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1198-1200)gGc>gAc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							106	98	101					17																	10250061		1969	4161	6130	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10250061C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1199G>A	17.37:g.10250061C>T	ENSP00000404570:p.Gly400Asp					MYH13_uc010vvf.1_Missense_Mutation_p.G75D	p.G400D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			12	1289	-			400			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1199G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189742	0.57909	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87179	-2.22	4.65	3.6	0.41247	Myosin head, motor domain (2);	.	.	.	.	D	0.91476	0.7309	M	0.92077	3.27	0.37743	D	0.925709	B	0.22276	0.067	B	0.36766	0.232	D	0.92852	0.6298	9	0.54805	T	0.06	.	14.0435	0.64690	0.0:0.7054:0.2946:0.0	.	400	Q9UKX3	MYH13_HUMAN	D	400;75	ENSP00000252172:G400D	ENSP00000252172:G400D	G	-	2	0	MYH13	10190786	0.037000	0.19845	1.000000	0.80357	0.881000	0.50899	0.343000	0.19944	2.294000	0.77228	0.561000	0.74099	GGC		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10250061	C	T	10250061	3	4	265	1	0	0	0	0	1	0	0	0	10032	739	26	3	4733	3	MYH13	17	10250061	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	5212806	10250061	70945149	52	18947											
KIF2B	84643	broad.mit.edu	37	chr17	51900577	51900577	+	Silent	SNP	G	G	T																															tgggtcacggtagagtgggtGgagaaagcagtcaaaaaagg																										TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900577G>T	ENST00000268919.4	+	1	339	c.183G>T	c.(181-183)gtG>gtT	p.V61V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	61					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAGTGGGTGGAGAAAGCAG	0.557																																						uc002iua.2																			0		p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(181-183)gtG>gtT		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							167	143	151					17																	51900577		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900577G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.183G>T	17.37:g.51900577G>T							p.V61V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	339	+			61					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.183G>T	CCDS32685.1																																																																																				0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900577	G	T	51900577	2	4	265	1	0	0	0	0	0	0	0	1	8298	1335	47	5		5	KIF2B	17	51900577	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	41650516	51900577	29294633	53	18948	24	2									
KIF2B	84643	broad.mit.edu	37	chr17	51900579	51900579	+	Missense_Mutation	SNP	A	A	G																															ggtcacggtagagtgggtggAgaaagcagtcaaaaaaggca																										TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900579A>G	ENST00000268919.4	+	1	341	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	62					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGGGTGGAGAAAGCAGTC	0.552																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(184-186)gAg>gGg		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							167	144	152					17																	51900579		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900579A>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.185A>G	17.37:g.51900579A>G	ENSP00000268919:p.Glu62Gly						p.E62G	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	341	+			62					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.185A>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734803	0.69189	.	.	ENSG00000141200	ENST00000268919	D	0.84070	-1.8	4.96	4.96	0.65561	.	0.000000	0.47455	D	0.000230	D	0.89818	0.6825	M	0.74546	2.27	0.39695	D	0.971101	D	0.89917	1.0	D	0.80764	0.994	D	0.91401	0.5143	10	0.87932	D	0	.	12.3924	0.55366	1.0:0.0:0.0:0.0	.	62	Q8N4N8	KIF2B_HUMAN	G	62	ENSP00000268919:E62G	ENSP00000268919:E62G	E	+	2	0	KIF2B	49255578	1.000000	0.71417	0.996000	0.52242	0.840000	0.47671	5.802000	0.69122	2.191000	0.70037	0.533000	0.62120	GAG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		G	51900579	A	G	51900579	3	3	265	1	0	0	0	0	1	0	0	0	8298	304	11	4	187	4	KIF2B	17	51900579	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08	2	51900579	29294631	54	18949	24	2									
GRIN2C	2905	broad.mit.edu	37	chr17	72845978	72845978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcacactgatgcccGtctccacaaagggtacagag	12	6	8	15	1	2	2	1	1	1	1	3	2	2	2	4	1	2	1	4	1	2	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:72845978G>A	ENST00000293190.5	-	7	1732	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.T529M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	529					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTGATGCCCGTCTCCACAAA	0.627																																						uc002jlt.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1585-1587)aCg>aTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						106	96	99					17																	72845978		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72845978G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1586C>T	17.37:g.72845978G>A	ENSP00000293190:p.Thr529Met					GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	p.T529M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			6	1742	-	all_lung(278;0.172)|Lung NSC(278;0.207)		529					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1586C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754016	0.49362	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.30981	1.51	4.19	4.19	0.49359	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72337	-0.4324	10	0.72032	D	0.01	.	17.0587	0.86541	0.0:0.0:1.0:0.0	.	563;529	Q8IW23;Q14957	.;NMDE3_HUMAN	M	529;563	ENSP00000293190:T529M	ENSP00000293190:T529M	T	-	2	0	GRIN2C	70357573	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.468000	0.97676	2.313000	0.78055	0.491000	0.48974	ACG		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			A	72845978	G	A	72845978	3	1	265	1	0	0	0	0	1	0	0	0	6781	1145	40	1	2143	1	GRIN2C	17	72845978	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	20945399	72845978	8349232	55	18950											
MC5R	4161	broad.mit.edu	37	chr18	13826125	13826125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaatgtgtttgactccAtgatctgcatttccgtggtg	7	16	10	8	1	1	3	0	3	1	0	3	3	3	3	2	1	1	2	2	1	1	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:13826125A>G	ENST00000324750.3	+	1	583	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	121					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTTTGACTCCATGATCTGCAT	0.517																																						uc010xaf.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(361-363)Atg>Gtg		Homo sapiens melanocortin 5 receptor (MC5R), mRNA.							148	122	131					18																	13826125		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826125A>G	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.361A>G	18.37:g.13826125A>G	ENSP00000318077:p.Met121Val						p.M121V	NM_005913	NP_005904	P33032	MC5R_HUMAN			0	583	+			121					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.361A>G	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298503	0.40694	.	.	ENSG00000176136	ENST00000324750	T	0.18502	2.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.037941	0.85682	D	0.000000	T	0.21590	0.0520	L	0.58302	1.8	0.54753	D	0.999984	P	0.40000	0.698	B	0.43990	0.438	T	0.02519	-1.1147	10	0.23302	T	0.38	.	11.2657	0.49110	0.8476:0.1524:0.0:0.0	.	121	P33032	MC5R_HUMAN	V	121	ENSP00000318077:M121V	ENSP00000318077:M121V	M	+	1	0	MC5R	13816125	0.994000	0.37717	1.000000	0.80357	0.928000	0.56348	2.614000	0.46359	1.873000	0.54277	0.374000	0.22700	ATG		0.517	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		G	13826125	A	G	13826125	3	3	265	1	0	0	0	0	1	0	0	0	9367	217	8	4	363	4	MC5R	18	13826125	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		13826125	64251123	56	18951											
MAN2B1	4125	broad.mit.edu	37	chr19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtgggggccatccgCgtaagggaagaagtcgtcat	10	7	16	8	3	1	1	1	0	0	1	3	3	2	2	2	4	1	1	2	4	4	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1141-1143)Gcg>Acg		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							64	68	67					19																	12769127		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12769127C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1141G>A	19.37:g.12769127C>T	ENSP00000395473:p.Ala381Thr					MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	p.A381T	NM_000528	NP_000519	O00754	MA2B1_HUMAN			8	1217	-			381					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1141G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398417	0.96030	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80738	-1.41;-1.41	5.33	5.33	0.75918	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.42294	D	0.000730	D	0.90222	0.6943	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.81914	0.995;0.877	D	0.91550	0.5256	10	0.87932	D	0	-8.818	16.5676	0.84602	0.0:1.0:0.0:0.0	.	380;381	G5E928;O00754	.;MA2B1_HUMAN	T	381;320;380	ENSP00000395473:A381T;ENSP00000221363:A380T	ENSP00000221363:A380T	A	-	1	0	MAN2B1	12630127	1.000000	0.71417	0.786000	0.31890	0.817000	0.46193	5.660000	0.68018	2.503000	0.84419	0.460000	0.39030	GCG		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			T	12769127	C	T	12769127	3	4	265	1	0	0	0	0	1	0	0	0	9216	768	27	1	1958	1	MAN2B1	19	12769127	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		12769127	46359856	57	18952											
NLRP5	126206	broad.mit.edu	37	chr19	56565093	56565093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagagcctggatctcaCggacaatgccctgggtgacg	9	7	13	12	2	1	3	1	2	1	1	2	5	1	5	3	3	2	0	3	3	2	0	rs201338049	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:56565093C>T	ENST00000390649.3	+	13	3218	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1073					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGATCTCACGGACAATGCC	0.587													C|||	8	0.00159744	0	0	5008	,	,		18678	0.001		0	False		,,,				2504	0.0072					uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3217-3219)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.		C	MET/THR	0,4212		0,0,2106	90	92	91		3218	-1.6	0	19		91	2,8460		0,2,4229	yes	missense	NLRP5	NM_153447.4	81	0,2,6335	TT,TC,CC		0.0236,0.0,0.0158	probably-damaging	1073/1201	56565093	2,12672	2106	4231	6337	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56565093C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3218C>T	19.37:g.56565093C>T	ENSP00000375063:p.Thr1073Met					NLRP5_uc002qmi.3_Missense_Mutation_p.T1054M	p.T1073M	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	12	3218	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1073					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3218C>T	CCDS12938.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	13.31	2.198591	0.38806	0.0	2.36E-4	ENSG00000171487	ENST00000390649	T	0.14144	2.53	3.69	-1.57	0.08506	.	0.498628	0.15065	N	0.282551	T	0.17874	0.0429	L	0.37697	1.125	0.09310	N	1	D	0.67145	0.996	P	0.60609	0.877	T	0.10268	-1.0637	10	0.49607	T	0.09	.	7.0769	0.25209	0.0:0.3675:0.5243:0.1083	.	1073	P59047	NALP5_HUMAN	M	1073	ENSP00000375063:T1073M	ENSP00000375063:T1073M	T	+	2	0	NLRP5	61256905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.011000	0.12721	-0.132000	0.11557	0.655000	0.94253	ACG		0.587	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56565093	C	T	56565093	3	4	265	1	0	0	0	0	1	0	0	0	10480	536	19	1	3268	1	NLRP5	19	56565093	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	43795966	56565093	2563890	58	18953											
TNNC2	7125	broad.mit.edu	37	chr20	44453472	44453472	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcagcctgctggtccGtctgcaggagacacagagaa	9	7	13	12	1	2	2	1	0	1	2	3	4	3	2	3	3	3	2	3	3	1	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr20:44453472G>A	ENST00000372555.3	-	2	97	c.5C>T	c.(4-6)aCg>aTg	p.T2M	TNNC2_ENST00000372557.1_De_novo_Start_InFrame	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	2				TD -> DT (in Ref. 9; AA sequence). {ECO:0000305}.	muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CTGCTGGTCCGTCTGCAGGAG	0.612																																						uc002xpr.3																			0				endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.e2-1		Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.							108	112	111					20																	44453472		2203	4300	6503	SO:0001630	splice_region_variant	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44453472G>A		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.4-1C>T	20.37:g.44453472G>A							p.T2_splice	NM_003279	NP_003270	P02585	TNNC2_HUMAN			2	70	-		Myeloproliferative disorder(115;0.0122)	2	TD -> DT (in Ref. 6; AA sequence).				Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	37	c.4_splice	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512223	0.85389	.	.	ENSG00000101470	ENST00000372555	T	0.73363	-0.74	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.55615	0.78	T	0.80603	-0.1309	10	0.87932	D	0	-20.705	16.7956	0.85601	0.0:0.0:1.0:0.0	.	2	P02585	TNNC2_HUMAN	M	2	ENSP00000361636:T2M	ENSP00000361636:T2M	T	-	2	0	TNNC2	43886879	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.284000	0.78650	2.536000	0.85505	0.462000	0.41574	ACG		0.612	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279	Missense_Mutation	A	44453472	G	A	44453472	5	1	265	1	0	0	0	0	0	0	1	0	16322	1159	40	1	497	1	TNNC2	20	44453472	Splice_Site	SNP	G	TCGA-76-4935-01A-01D-1486-08		44453472	18572048	59	18954											
MXRA5	25878	broad.mit.edu	37	chrX	3240193	3240193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgagtagaaaaagtcTctgatggggcaaaagttgtg	12	12	14	3	0	1	3	0	2	1	1	2	3	1	3	0	3	0	4	0	3	5	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:3240193T>C	ENST00000217939.6	-	5	3687	c.3533A>G	c.(3532-3534)gAg>gGg	p.E1178G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1178						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAAAAGTCTCTGATGGGGC	0.488																																						uc004crg.4																			0		p.E1178D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3532-3534)gAg>gGg		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							115	117	116					X																	3240193		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240193T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3533A>G	X.37:g.3240193T>C	ENSP00000217939:p.Glu1178Gly						p.E1178G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	3690	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1178					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3533A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	9.640	1.138799	0.21123	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70631	-0.5	3.61	-0.433	0.12287	.	0.362815	0.19541	N	0.111790	T	0.50633	0.1627	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37709	-0.9694	10	0.72032	D	0.01	.	4.5952	0.12325	0.0:0.2819:0.3022:0.4158	.	1178	Q9NR99	MXRA5_HUMAN	G	1178	ENSP00000217939:E1178G	ENSP00000217939:E1178G	E	-	2	0	MXRA5	3250193	0.005000	0.15991	0.000000	0.03702	0.023000	0.10783	0.362000	0.20284	-0.526000	0.06383	0.422000	0.28245	GAG		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		C	3240193	T	C	3240193	3	2	265	1	0	0	0	0	1	0	0	0	10003	1551	54	4	4965	4	MXRA5	23	3240193	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08		3240193	152030367	60	18955											
RAI2	10742	broad.mit.edu	37	chrX	17818870	17818870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttattttcagccttgacttCgccgctggggtggttgggct	3	15	14	9	2	1	1	1	1	0	0	2	1	1	1	2	4	1	4	2	4	1	6	rs373934341		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:17818870C>T	ENST00000545871.1	-	3	1721	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	RAI2_ENST00000451717.1_Missense_Mutation_p.E421K|RAI2_ENST00000415486.3_Missense_Mutation_p.E371K|RAI2_ENST00000331511.1_Missense_Mutation_p.E421K|RAI2_ENST00000360011.1_Missense_Mutation_p.E421K	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	421					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTGACTTCGCCGCTGGGG	0.567																																						uc022btm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1261-1263)Gaa>Aaa		Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,3834		0,1,1631,571	91	89	90		1111,1261,1261,1261	4.3	0.1	X		90	0,6728		0,0,2428,1872	no	missense,missense,missense,missense	RAI2	NM_001172732.1,NM_001172739.1,NM_001172743.1,NM_021785.4	56,56,56,56	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	371/481,421/531,421/531,421/531	17818870	1,10562	2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818870C>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1261G>A	X.37:g.17818870C>T	ENSP00000444210:p.Glu421Lys					RAI2_uc004cyf.3_Missense_Mutation_p.E421K|RAI2_uc004cyg.3_Missense_Mutation_p.E421K|RAI2_uc011miy.2_Missense_Mutation_p.E371K|RAI2_uc022btl.1_Missense_Mutation_p.E421K|RAI2_uc004cyh.4_Missense_Mutation_p.E421K|RAI2_uc010nfa.3_Missense_Mutation_p.E421K	p.E421K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			0	1261	-	Hepatocellular(33;0.183)		421					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1261G>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381935	0.42207	2.61E-4	0.0	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.32753	1.45;1.45;1.45;1.45;1.44	5.12	4.26	0.50523	.	0.347275	0.26262	N	0.025398	T	0.20210	0.0486	L	0.32530	0.975	0.37722	D	0.924947	P;P	0.49253	0.921;0.821	B;B	0.33339	0.162;0.162	T	0.14227	-1.0480	10	0.62326	D	0.03	-5.4531	12.9627	0.58468	0.0:0.9204:0.0:0.0796	.	371;421	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	K	421;421;421;421;371	ENSP00000333456:E421K;ENSP00000353106:E421K;ENSP00000444210:E421K;ENSP00000401323:E421K;ENSP00000392578:E371K	ENSP00000333456:E421K	E	-	1	0	RAI2	17728791	0.994000	0.37717	0.095000	0.20976	0.437000	0.31866	3.187000	0.50950	1.156000	0.42514	0.600000	0.82982	GAA		0.567	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		T	17818870	C	T	17818870	3	4	265	1	0	0	0	0	1	0	0	0	13009	893	31	2	335	2	RAI2	23	17818870	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	14578677	17818870	137451690	61	18956											
KLHL34	257240	broad.mit.edu	37	chrX	21675213	21675213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtacacgcgccgcagtaCgtcggcgggaaccaggccaa	10	3	14	14	7	0	0	0	0	0	0	1	2	0	1	3	3	3	3	3	3	4	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:21675213C>G	ENST00000379499.2	-	1	1235	c.694G>C	c.(694-696)Gta>Cta	p.V232L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	232	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGCCGCAGTACGTCGGCGGGA	0.667																																						uc004czz.1																			0		p.D231D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(694-696)Gta>Cta		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							18	17	17					X																	21675213		2196	4289	6485	SO:0001583	missense	257240							g.chrX:21675213C>G	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.694G>C	X.37:g.21675213C>G	ENSP00000368813:p.Val232Leu						p.V232L	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	1236	-			232			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.694G>C	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.094930	0.00364	.	.	ENSG00000185915	ENST00000379499	T	0.68181	-0.31	4.65	1.77	0.24775	BTB/Kelch-associated (2);	0.510095	0.19772	N	0.106416	T	0.34279	0.0892	N	0.04787	-0.16	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.28933	-1.0028	10	0.02654	T	1	.	5.8407	0.18633	0.0:0.5374:0.2948:0.1677	.	232	Q8N239	KLH34_HUMAN	L	232	ENSP00000368813:V232L	ENSP00000368813:V232L	V	-	1	0	KLHL34	21585134	0.968000	0.33430	0.072000	0.20136	0.061000	0.15899	2.433000	0.44793	0.051000	0.15978	0.422000	0.28245	GTA		0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		G	21675213	C	G	21675213	3	3	265	1	0	0	0	0	1	0	0	0	8387	536	19	5	1244	5	KLHL34	23	21675213	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	3856343	21675213	133595347	62	18957											
DUSP21	63904	broad.mit.edu	37	chrX	44703624	44703624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtgactcgcgtctctaCgacttttttgaccccattgc	5	14	8	14	4	1	2	0	2	1	0	4	3	1	2	2	0	2	1	2	0	1	5	rs369441582		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:44703624C>T	ENST00000339042.4	+	1	376	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	82	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y82Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGCGTCTCTACGACTTTTTTG	0.542																																						uc004dgd.3																			2	Substitution - coding silent(2)	p.Y82Y(4)	lung(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						c.(244-246)taC>taT		Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.		C		0,3835		0,0,1632,571	187	147	161		246	-2.1	0	X		161	1,6727		0,1,2427,1872	no	coding-synonymous	DUSP21	NM_022076.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		82/191	44703624	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703624C>T	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.246C>T	X.37:g.44703624C>T							p.Y82Y	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			0	376	+			82			Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.246C>T	CCDS14264.1																																																																																				0.542	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		T	44703624	C	T	44703624	2	4	265	1	0	0	0	0	0	0	0	1	4820	547	19	1		1	DUSP21	23	44703624	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	23028411	44703624	110566936	63	18958											
EDA2R	60401	broad.mit.edu	37	chrX	65819404	65819404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgtttccccccaaggtCtcagctccagtataggaggc	8	10	10	13	0	1	0	1	0	1	0	4	1	3	1	4	3	1	3	4	3	3	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:65819404C>T	ENST00000374719.3	-	6	872	c.816G>A	c.(814-816)gaG>gaA	p.E272E	EDA2R_ENST00000450752.1_Silent_p.E293E|EDA2R_ENST00000253392.5_Silent_p.E293E|EDA2R_ENST00000451436.2_Silent_p.E148E|EDA2R_ENST00000396050.1_Silent_p.E272E|EDA2R_ENST00000456230.2_Silent_p.E272E	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	272					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCCCCAAGGTCTCAGCTCCAG	0.547																																						uc004dwt.2																			0		p.E293E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(877-879)gaG>gaA		Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.							32	27	29					X																	65819404		2202	4295	6497	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819404C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.816G>A	X.37:g.65819404C>T						EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Silent_p.E272E|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Silent_p.E148E|EDA2R_uc004dwq.3_Silent_p.E272E|EDA2R_uc022byh.1_Silent_p.E274E	p.E293E	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN			5	889	-			272					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.879G>A	CCDS14386.1																																																																																				0.547	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		T	65819404	C	T	65819404	2	4	265	1	0	0	0	0	0	0	0	1	4904	912	32	3		3	EDA2R	23	65819404	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	21115780	65819404	89451156	64	18959											
PCDH11X	27328	broad.mit.edu	37	chrX	91873723	91873723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggcccaatcatcagtCagtttgcagcaaggttgggt	10	10	12	9	0	4	0	4	0	0	0	4	0	4	0	1	3	2	4	1	3	2	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:91873723C>A	ENST00000373094.1	+	7	4673	c.3828C>A	c.(3826-3828)gtC>gtA	p.V1276V	PCDH11X_ENST00000298274.8_Silent_p.V1239V|PCDH11X_ENST00000373097.1_Silent_p.V1266V|PCDH11X_ENST00000373088.1_Silent_p.V1239V|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.V1268V|PCDH11X_ENST00000361655.2_Silent_p.V1258V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1276					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1276V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATCATCAGTCAGTTTGCAGC	0.517																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			1	Substitution - coding silent(1)	p.V1276V(2)|p.S1275*(1)	lung(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3826-3828)gtC>gtA		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							252	225	234					X																	91873723		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873723C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3828C>A	X.37:g.91873723C>A						PCDH11X_uc004efl.2_Silent_p.V1266V|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.V1268V|PCDH11X_uc004efn.2_Silent_p.V1258V|PCDH11X_uc004efo.2_Silent_p.V1239V	p.V1276V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			6	4673	+			1276					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3828C>A	CCDS14461.1																																																																																				0.517	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91873723	C	A	91873723	2	1	265	1	0	0	0	0	0	0	0	1	11508	813	29	5		5	PCDH11X	23	91873723	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	26054319	91873723	63396837	65	18960											
CSTF2	1478	broad.mit.edu	37	chrX	100075435	100075435	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgtgagagacccagcGgtggatcgttctctacgttc	7	12	12	10	3	1	3	0	2	1	1	4	5	1	4	1	2	2	2	1	2	1	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:100075435G>T	ENST00000372972.2	+	1	46	c.30G>T	c.(28-30)gcG>gcT	p.A10A	CSTF2_ENST00000415585.2_Silent_p.A10A|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	10					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGACCCAGCGGTGGATCGTT	0.562																																						uc004egh.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(28-30)gcG>gcT		Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.							152	107	122					X																	100075435		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100075435G>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.30G>T	X.37:g.100075435G>T						CSTF2_uc010nnd.3_Silent_p.A10A|CSTF2_uc004egi.3_Silent_p.A10A	p.A10A	NM_001325	NP_001316	P33240	CSTF2_HUMAN			0	88	+			10					Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.30G>T	CCDS14473.1																																																																																				0.562	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		T	100075435	G	T	100075435	2	4	265	1	0	0	0	0	0	0	0	1	3984	1103	39	5		5	CSTF2	23	100075435	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	8201712	100075435	55195125	66	18961											
TEX13B	56156	broad.mit.edu	37	chrX	107224498	107224498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcccagagaagacagaCatggctgtttgtactgacct	12	8	10	11	0	0	4	0	1	0	3	0	5	0	4	3	1	2	3	3	1	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:107224498C>G	ENST00000302917.1	-	3	843	c.751G>C	c.(751-753)Gtc>Ctc	p.V251L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	251										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGAAGACAGACATGGCTGTTT	0.552																																						uc004enn.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(751-753)Gtc>Ctc		Homo sapiens testis expressed 13B (TEX13B), mRNA.							179	151	161					X																	107224498		2199	4300	6499	SO:0001583	missense	56156							g.chrX:107224498C>G	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.751G>C	X.37:g.107224498C>G	ENSP00000303777:p.Val251Leu						p.V251L	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	844	-			251					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.751G>C	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	6.949	0.544885	0.13312	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.61	-0.564	0.11774	.	.	.	.	.	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.16289	0.015	T	0.26950	-1.0088	8	0.16420	T	0.52	.	3.8435	0.08925	0.0:0.3415:0.3953:0.2632	.	251	Q9BXU2	TX13B_HUMAN	L	251	.	ENSP00000303777:V251L	V	-	1	0	TEX13B	107111154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.253000	0.08794	-0.251000	0.09542	-0.198000	0.12761	GTC		0.552	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			G	107224498	C	G	107224498	3	3	265	1	0	0	0	0	1	0	0	0	15774	478	17	5	191	5	TEX13B	23	107224498	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	7149063	107224498	48046062	67	18962											
TRPC5	7224	broad.mit.edu	37	chrX	111020072	111020072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagcctaaattaaaagaGacactcttggatttggcccg	12	11	9	9	1	1	1	0	0	1	1	1	3	1	2	2	2	2	1	2	2	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:111020072G>A	ENST00000262839.2	-	11	3309	c.2391C>T	c.(2389-2391)gtC>gtT	p.V797V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	797					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATTAAAAGAGACACTCTTGG	0.483																																						uc004epl.1																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2389-2391)gtC>gtT		Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.							131	134	133					X																	111020072		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111020072G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2391C>T	X.37:g.111020072G>A							p.V797V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			10	3310	-			797					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.2391C>T	CCDS14561.1																																																																																				0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		A	111020072	G	A	111020072	2	1	265	1	0	0	0	0	0	0	0	1	16579	929	33	3		3	TRPC5	23	111020072	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	3795574	111020072	44250488	68	18963											
AFF2	2334	broad.mit.edu	37	chrX	148059892	148059892	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctttcctcatcaccacagCtaccgatgtttatcactcct	8	13	4	16	1	3	0	3	0	0	0	5	1	5	0	5	0	2	2	5	0	2	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:148059892C>T	ENST00000370460.2	+	18	3956	c.3477C>T	c.(3475-3477)tgC>tgT	p.C1159C	AFF2_ENST00000286437.5_Splice_Site_p.C800C|AFF2_ENST00000370457.5_Splice_Site_p.C1124C|AFF2_ENST00000342251.3_Splice_Site_p.C1126C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1159					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCACAGCTACCGATGTT	0.378																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e18-1		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							189	165	173					X																	148059892		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148059892C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3477-1C>T	X.37:g.148059892C>T						AFF2_uc004fcq.3_Splice_Site_p.C1149_splice|AFF2_uc004fcr.3_Splice_Site_p.C1120_splice|AFF2_uc011mxb.2_Splice_Site_p.C1124_splice|AFF2_uc004fcs.3_Splice_Site_p.C1124_splice|AFF2_uc011mxc.2_Splice_Site_p.C800_splice	p.C1159_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN			18	3956	+	Acute lymphoblastic leukemia(192;6.56e-05)		1159					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.3477_splice	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Silent	T	148059892	C	T	148059892	5	4	265	1	0	0	0	0	0	0	1	0	357	811	28	3	3602	3	AFF2	23	148059892	Splice_Site	SNP	C	TCGA-76-4935-01A-01D-1486-08	37039820	148059892	7210668	69	18964											
MTMR1	8776	broad.mit.edu	37	chrX	149931076	149931076	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggagctgctggccgtCagggcggagctgcagaagcg	8	5	17	11	3	2	1	2	0	0	1	2	3	2	3	1	4	5	4	1	4	2	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:149931076C>A	ENST00000370390.3	+	15	2029	c.1872C>A	c.(1870-1872)gtC>gtA	p.V624V	MTMR1_ENST00000445323.2_Silent_p.V632V|MTMR1_ENST00000544228.1_Silent_p.V624V|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000541925.1_Silent_p.V530V	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	624					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGCCGTCAGGGCGGAGC	0.627																																						uc004feh.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1894-1896)gtC>gtA		Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.							76	65	68					X																	149931076		2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149931076C>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1872C>A	X.37:g.149931076C>A						MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004fei.3_Silent_p.V624V|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	p.V632V	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			15	2031	+	Acute lymphoblastic leukemia(192;6.56e-05)		624					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1896C>A	CCDS14695.1																																																																																				0.627	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		A	149931076	C	A	149931076	2	1	265	1	0	0	0	0	0	0	0	1	9938	813	29	5		5	MTMR1	23	149931076	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	1871184	149931076	5339484	70	18965											
ABCD1	215	broad.mit.edu	37	chrX	153008746	153008746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcaagatcttccaggCggccaaggacgcgggcattg	10	5	16	10	3	1	1	0	0	1	1	2	3	2	3	2	6	0	2	2	6	3	2	rs74315282		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:153008746C>T	ENST00000218104.3	+	9	2336	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	646	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		A -> P (in ALD). {ECO:0000269|PubMed:10737980}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCCAGGCGGCCAAGGAC	0.672																																						uc004fif.2																			0		p.Q645Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1936-1938)gCg>gTg		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.							26	22	23					X																	153008746		2199	4295	6494	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153008746C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1937C>T	X.37:g.153008746C>T	ENSP00000218104:p.Ala646Val						p.A646V	NM_000033	NP_000024	P33897	ABCD1_HUMAN			8	2336	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		646		A -> P (in X-ALD).	ABC transporter.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1937C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006233	0.54361	.	.	ENSG00000101986	ENST00000218104	D	0.99848	-7.14	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000004	D	0.98579	0.9525	L	0.38838	1.175	0.80722	D	1	P	0.47604	0.898	B	0.31245	0.126	D	0.99985	1.3068	10	0.12766	T	0.61	-37.0282	16.1714	0.81820	0.0:1.0:0.0:0.0	.	646	P33897	ABCD1_HUMAN	V	646	ENSP00000218104:A646V	ENSP00000218104:A646V	A	+	2	0	ABCD1	152661940	1.000000	0.71417	0.917000	0.36280	0.681000	0.39784	7.426000	0.80270	2.156000	0.67533	0.523000	0.50628	GCG		0.672	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		T	153008746	C	T	153008746	3	4	265	1	0	0	0	0	1	0	0	0	60	768	27	1	1971	1	ABCD1	23	153008746	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	3077670	153008746	2261814	71	18966											
GJA5	2702	broad.mit.edu	37	chr1	147230396	147230396	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctcaggcttctggccAtaacgaacctggatgaaacc	11	7	10	13	1	2	1	1	1	1	0	2	3	2	2	4	4	3	2	4	4	3	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:147230396A>G	ENST00000271348.2	-	2	1112	c.951T>C	c.(949-951)taT>taC	p.Y317Y	GJA5_ENST00000369237.1_Silent_p.Y317Y|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	317					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCTTCTGGCCATAACGAACCT	0.542																																						uc021ovl.1																			0		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(949-951)taT>taC		Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.							150	138	142					1																	147230396		2203	4300	6503	SO:0001819	synonymous_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230396A>G		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.951T>C	1.37:g.147230396A>G						GJA5_uc001eps.1_Silent_p.Y317Y|GJA5_uc001ept.1_Silent_p.Y317Y	p.Y317Y	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		0	951	-	all_hematologic(923;0.0276)		317					Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	37	c.951T>C	CCDS929.1																																																																																				0.542	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		G	147230396	A	G	147230396	2	3	266	1	0	0	0	0	0	0	0	1	6404	224	8	4		4	GJA5	1	147230396	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08		147230396	102020225	1	18967											
KPRP	448834	broad.mit.edu	37	chr1	152732251	152732251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgccaggtgtcagaccagGctccatgccagtctcagacc	8	9	10	14	0	2	2	2	0	1	2	4	2	3	2	5	2	2	1	5	2	0	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:152732251G>A	ENST00000606109.1	+	1	215	c.187G>A	c.(187-189)Gct>Act	p.A63T	KPRP_ENST00000368773.1_Missense_Mutation_p.A63T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	63	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGACCAGGCTCCATGCCA	0.552																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(187-189)Gct>Act		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							170	151	158					1																	152732251		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732251G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.187G>A	1.37:g.152732251G>A	ENSP00000475216:p.Ala63Thr					KPRP_uc021ozf.1_Missense_Mutation_p.A63T	p.A63T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	245	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		63			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.187G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	5.042	0.193426	0.09599	.	.	ENSG00000203786	ENST00000368773	T	0.15952	2.38	5.52	1.24	0.21308	.	0.341140	0.21636	N	0.071420	T	0.04998	0.0134	L	0.52364	1.645	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.34601	-0.9822	10	0.49607	T	0.09	-0.6571	5.9416	0.19196	0.2427:0.0:0.6219:0.1354	.	63	Q5T749	KPRP_HUMAN	T	63	ENSP00000357762:A63T	ENSP00000357762:A63T	A	+	1	0	KPRP	150998875	0.011000	0.17503	0.855000	0.33649	0.012000	0.07955	-0.122000	0.10627	0.108000	0.17862	-0.797000	0.03246	GCT		0.552	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152732251	G	A	152732251	3	1	266	1	0	0	0	0	1	0	0	0	8436	1203	42	3	189	3	KPRP	1	152732251	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	5501855	152732251	96518370	2	18968											
METTL13	51603	broad.mit.edu	37	chr1	171765699	171765699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggctcaaggcagtgttcCccctcctatatgtccggcga	6	10	11	14	2	1	0	1	0	0	0	4	1	4	0	4	3	0	3	4	3	3	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:171765699C>A	ENST00000361735.3	+	8	2169	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	METTL13_ENST00000458517.1_Missense_Mutation_p.P634T|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Missense_Mutation_p.P549T|METTL13_ENST00000367737.5_Missense_Mutation_p.P479T	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	635							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGCAGTGTTCCCCCTCCTATA	0.498																																						uc001ghz.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1903-1905)Ccc>Acc		Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.							143	128	133					1																	171765699		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171765699C>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1903C>A	1.37:g.171765699C>A	ENSP00000354920:p.Pro635Thr					METTL13_uc001gia.3_Missense_Mutation_p.P549T|METTL13_uc001gib.3_Missense_Mutation_p.P479T|METTL13_uc010pml.2_Missense_Mutation_p.P634T|METTL13_uc001gic.1_Non-coding_Transcript	p.P635T	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN			7	2250	+			635					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1903C>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436421	0.83885	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.93;1.0;0.984	T	0.78033	-0.2362	10	0.17832	T	0.49	-16.2332	19.635	0.95728	0.0:1.0:0.0:0.0	.	634;479;635	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	T	634;549;479;635;335;332	ENSP00000401955:P634T;ENSP00000355393:P549T;ENSP00000356711:P479T;ENSP00000354920:P635T;ENSP00000356710:P335T	ENSP00000341732:P332T	P	+	1	0	METTL13	170032322	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.141000	0.58038	2.733000	0.93635	0.655000	0.94253	CCC		0.498	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		A	171765699	C	A	171765699	3	1	266	1	0	0	0	0	1	0	0	0	9497	623	22	5	1933	5	METTL13	1	171765699	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	19033448	171765699	77484922	3	18969											
TPR	7175	broad.mit.edu	37	chr1	186289465	186289465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagaagcaagctggcCaagatcagagtgactagaac	14	7	11	9	0	1	5	1	2	0	4	2	6	2	5	2	1	3	2	2	1	5	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:186289465C>T	ENST00000367478.4	-	46	6843	c.6547G>A	c.(6547-6549)Ggc>Agc	p.G2183S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2183					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAAGCTGGCCAAGATCAGAG	0.418			T	NTRK1	papillary thyroid																																	uc001grv.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6547-6549)Ggc>Agc		Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.							95	87	89					1																	186289465		1872	4100	5972	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186289465C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6547G>A	1.37:g.186289465C>T	ENSP00000356448:p.Gly2183Ser					MIR548F1_uc021pgf.1_Intron	p.G2183S	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	45	6844	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2183					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6547G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604979	0.87157	.	.	ENSG00000047410	ENST00000367478	T	0.35605	1.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.23868	-1.0176	10	0.15499	T	0.54	.	19.2507	0.93923	0.0:1.0:0.0:0.0	.	2183	P12270	TPR_HUMAN	S	2183	ENSP00000356448:G2183S	ENSP00000356448:G2183S	G	-	1	0	TPR	184556088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.076000	0.76806	2.538000	0.85594	0.563000	0.77884	GGC		0.418	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186289465	C	T	186289465	3	4	266	1	0	0	0	0	1	0	0	0	16413	594	21	3	568	3	TPR	1	186289465	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	14523766	186289465	62961156	4	18970											
KCNJ3	3760	broad.mit.edu	37	chr2	155711520	155711520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattactacaaaactaccaTctaagctgcagaaaattact	18	11	3	9	0	1	1	0	0	1	1	1	1	1	1	1	0	7	2	1	0	10	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:155711520T>A	ENST00000295101.2	+	3	1678	c.1201T>A	c.(1201-1203)Tct>Act	p.S401T	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	401					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAACTACCATCTAAGCTGCA	0.398																																						uc002tyv.1																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1201-1203)Tct>Act		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	Halothane(DB01159)						97	105	102					2																	155711520		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711520T>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1201T>A	2.37:g.155711520T>A	ENSP00000295101:p.Ser401Thr					KCNJ3_uc010zce.1_3'UTR	p.S401T	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	1396	+			401					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1201T>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379624	0.24944	.	.	ENSG00000162989	ENST00000295101	D	0.88975	-2.45	5.86	4.69	0.59074	.	0.500352	0.22978	N	0.053348	T	0.77725	0.4173	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66188	-0.5986	10	0.13853	T	0.58	.	6.0367	0.19712	0.1456:0.0759:0.0:0.7784	.	401	P48549	IRK3_HUMAN	T	401	ENSP00000295101:S401T	ENSP00000295101:S401T	S	+	1	0	KCNJ3	155419766	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.765000	0.38481	1.024000	0.39682	-0.344000	0.07964	TCT		0.398	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		A	155711520	T	A	155711520	3	1	266	1	0	0	0	0	1	0	0	0	8052	1435	50	5	1211	5	KCNJ3	2	155711520	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		155711520	87487853	5	18971											
LRP2	4036	broad.mit.edu	37	chr2	170003375	170003375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggccagttggccaacCaaggtcctcgaaaaccagga	15	4	11	11	1	0	1	0	0	0	1	2	3	1	2	5	4	2	1	5	4	5	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:170003375C>A	ENST00000263816.3	-	69	12970	c.12685G>T	c.(12685-12687)Ggt>Tgt	p.G4229C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4229					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTTGGCCAACCAAGGTCCTCG	0.448																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12685-12687)Ggt>Tgt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						110	93	99					2																	170003375		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170003375C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12685G>T	2.37:g.170003375C>A	ENSP00000263816:p.Gly4229Cys						p.G4229C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	68	12898	-			4229					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12685G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330239	0.81690	.	.	ENSG00000081479	ENST00000263816	D	0.93547	-3.24	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97564	1.0100	10	0.39692	T	0.17	.	19.1224	0.93369	0.0:1.0:0.0:0.0	.	4229	P98164	LRP2_HUMAN	C	4229	ENSP00000263816:G4229C	ENSP00000263816:G4229C	G	-	1	0	LRP2	169711621	1.000000	0.71417	0.993000	0.49108	0.680000	0.39746	7.818000	0.86416	2.524000	0.85096	0.561000	0.74099	GGT		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170003375	C	A	170003375	3	1	266	1	0	0	0	0	1	0	0	0	8956	594	21	5	1326	5	LRP2	2	170003375	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	14291855	170003375	73195998	6	18972											
TTC30A	92104	broad.mit.edu	37	chr2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagccctcggtggtcatgCccacacctagctcaggatgc	9	7	10	15	1	2	0	2	0	0	0	3	1	2	1	3	3	4	1	3	3	2	1	rs576095208		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:178482747C>T	ENST00000355689.5	-	1	947	c.683G>A	c.(682-684)gGc>gAc	p.G228D	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	228					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527																																						uc002ulo.3																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(682-684)gGc>gAc		Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.							80	78	79					2																	178482747		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482747C>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.683G>A	2.37:g.178482747C>T	ENSP00000347915:p.Gly228Asp						p.G228D	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		0	948	-			228					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.683G>A	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365539	0.82463	.	.	ENSG00000197557	ENST00000355689	T	0.25085	1.82	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71902	-0.4452	10	0.87932	D	0	.	20.0827	0.97786	0.0:1.0:0.0:0.0	.	228	Q86WT1	TT30A_HUMAN	D	228	ENSP00000347915:G228D	ENSP00000347915:G228D	G	-	2	0	TTC30A	178190993	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.826000	0.69293	2.755000	0.94549	0.549000	0.68633	GGC		0.527	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		T	178482747	C	T	178482747	3	4	266	1	0	0	0	0	1	0	0	0	16695	739	26	3	1318	3	TTC30A	2	178482747	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	8479372	178482747	64716626	7	18973											
PLCL2	23228	broad.mit.edu	37	chr3	17053527	17053527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaggggcctttctgtgAgaaaagggaagaaatccagg	16	7	13	5	0	1	2	0	1	1	2	2	4	2	3	2	4	0	0	2	4	6	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:17053527A>G	ENST00000418129.2	+	2	2776	c.2311A>G	c.(2311-2313)Aga>Gga	p.R771G	PLCL2_ENST00000432376.1_Missense_Mutation_p.R771G|PLCL2_ENST00000396755.2_Missense_Mutation_p.R771G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	897	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTTTCTGTGAGAAAAGGGAA	0.463																																						uc011awc.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2665-2667)Aga>Gga		Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.							97	101	100					3																	17053527		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17053527A>G	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2311A>G	3.37:g.17053527A>G	ENSP00000409637:p.Arg771Gly					PLCL2_uc011awd.2_Missense_Mutation_p.R771G	p.R889G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			2	2761	+			897					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2665A>G	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.84|18.84	3.709191|3.709191	0.68615|0.68615	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.19806|.	2.12;2.13;2.12|.	5.53|5.53	1.56|1.56	0.23342|0.23342	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66346|.	0.2780|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.67145|.	0.996|.	D|.	0.67900|.	0.954|.	T|.	0.61662|.	-0.7017|.	9|.	0.66056|.	D|.	0.02|.	.|.	13.0189|13.0189	0.58775|0.58775	0.6141:0.3859:0.0:0.0|0.6141:0.3859:0.0:0.0	.|.	897|.	Q9UPR0|.	PLCL2_HUMAN|.	G|W	771;898;771;771|514	ENSP00000409637:R771G;ENSP00000379979:R771G;ENSP00000412836:R771G|.	ENSP00000285094:R898G|.	R|X	+|+	1|3	2|0	PLCL2|PLCL2	17028531|17028531	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.997000|0.997000	0.91878|0.91878	1.248000|1.248000	0.32827|0.32827	0.029000|0.029000	0.15352|0.15352	0.402000|0.402000	0.26972|0.26972	AGA|TGA		0.463	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			G	17053527	A	G	17053527	3	3	266	1	0	0	0	0	1	0	0	0	12040	296	11	4	2689	4	PLCL2	3	17053527	Missense_Mutation	SNP	A	TCGA-76-6191-01A-12D-1696-08		17053527	180968903	8	18974											
TRAK1	22906	broad.mit.edu	37	chr3	42167078	42167078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacattgacctcacaaccgaGcaaattgaagagacgttaaa	18	7	7	9	2	1	3	1	2	0	1	1	5	1	3	2	0	3	2	2	0	6	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:42167078G>A	ENST00000327628.5	+	2	658	c.258G>A	c.(256-258)gaG>gaA	p.E86E	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCACAACCGAGCAAATTGAAG	0.443																																					GBM(44;195 884 22595 31865 41850)	uc003cky.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(256-258)gaG>gaA		Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.							134	125	128					3																	42167078		1956	4143	6099	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167078G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.258G>A	3.37:g.42167078G>A						TRAK1_uc011azh.2_Silent_p.E86E|TRAK1_uc011azi.2_Silent_p.E86E	p.E86E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			1	474	+			86			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.258G>A	CCDS43072.1																																																																																				0.443	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		A	42167078	G	A	42167078	2	1	266	1	0	0	0	0	0	0	0	1	16446	962	34	3		3	TRAK1	3	42167078	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	25113551	42167078	155855352	9	18975											
OR5H1	26341	broad.mit.edu	37	chr3	97852415	97852415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatcctatcatctacagtCtgagaaataagcaagtcaca	17	10	5	9	0	4	1	2	1	2	1	5	2	5	1	1	0	2	1	1	0	7	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:97852415C>T	ENST00000354565.2	+	1	874	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTACAGTCTGAGAAATAA	0.348																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(874-876)Ctg>Ttg		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							80	86	84					3																	97852415		2203	4298	6501	SO:0001819	synonymous_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852415C>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.874C>T	3.37:g.97852415C>T							p.L292L	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	874	+			292						Silent	SNP	ENST00000354565.2	37	c.874C>T	CCDS33797.1																																																																																				0.348	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97852415	C	T	97852415	2	4	266	1	0	0	0	0	0	0	0	1	11159	912	32	3		3	OR5H1	3	97852415	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	55685337	97852415	100170015	10	18976											
OR5K1	26339	broad.mit.edu	37	chr3	98189045	98189045	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaggttcagttcaagtcTttaccataggtagtgtctta	9	16	8	8	0	5	0	3	0	3	0	6	0	5	0	1	2	1	3	1	2	5	7			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:98189045T>A	ENST00000332650.5	+	1	722	c.625T>A	c.(625-627)Ttt>Att	p.F209I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTCAAGTCTTTACCATAGG	0.353																																						uc003dsm.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(625-627)Ttt>Att		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							165	167	166					3																	98189045		2203	4295	6498	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189045T>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.625T>A	3.37:g.98189045T>A	ENSP00000373193:p.Phe209Ile						p.F209I	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	625	+			209					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.625T>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389547	0.61956	.	.	ENSG00000232382	ENST00000332650	T	0.33216	1.42	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000397	T	0.33030	0.0849	N	0.26042	0.785	0.24535	N	0.994094	P	0.49559	0.925	P	0.55161	0.77	T	0.10567	-1.0624	10	0.27785	T	0.31	-18.2437	12.2578	0.54633	0.0:0.0:0.0:1.0	.	209	Q8NHB7	OR5K1_HUMAN	I	209	ENSP00000373193:F209I	ENSP00000373193:F209I	F	+	1	0	OR5K1	99671735	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	0.019000	0.13444	1.982000	0.57802	0.460000	0.39030	TTT		0.353	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			A	98189045	T	A	98189045	3	1	266	1	0	0	0	0	1	0	0	0	11166	1609	56	5	627	5	OR5K1	3	98189045	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	336630	98189045	99833385	11	18977											
EHHADH	1962	broad.mit.edu	37	chr3	184910535	184910535	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctattacccctttttcGggcaggagttcctggaagca	7	12	9	13	1	0	0	0	0	0	0	3	2	2	2	5	3	2	3	5	3	3	5	rs138388673	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:184910535G>A	ENST00000231887.3	-	7	1726	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R455*|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	551	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCCCTTTTTCGGGCAGGAGTT	0.473													G|||	2	0.000399361	8e-04	0	5008	,	,		19525	0		0	False		,,,				2504	0.001					uc003fpf.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1651-1653)Cga>Tga		Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	NADH(DB00157)	G	stop/ARG,stop/ARG	0,4406		0,0,2203	66	62	64		1363,1651	5	1	3	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained	EHHADH	NM_001166415.1,NM_001966.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	455/628,551/724	184910535	2,13004	2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910535G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1651C>T	3.37:g.184910535G>A	ENSP00000231887:p.Arg551*					EHHADH_uc011brs.2_Nonsense_Mutation_p.R455*	p.R551*	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	1727	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		551			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.1651C>T	CCDS33901.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.364506	0.98238	0.0	2.33E-4	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46678	D	0.999157	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6335	14.1489	0.65370	0.0:0.0:0.7271:0.2729	.	.	.	.	X	551;455	.	ENSP00000231887:R551X	R	-	1	2	EHHADH	186393229	1.000000	0.71417	0.995000	0.50966	0.752000	0.42762	4.187000	0.58344	1.483000	0.48342	0.655000	0.94253	CGA		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			A	184910535	G	A	184910535	4	1	266	1	0	0	0	0	0	1	0	0	4982	1124	39	2	524	2	EHHADH	3	184910535	Nonsense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	86721490	184910535	13111895	12	18978											
RGS12	6002	broad.mit.edu	37	chr4	3319669	3319669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtggagggcagcttcgCgcagcccccgctgaatgccc	6	5	15	15	3	0	1	0	1	0	0	1	2	0	2	3	3	3	4	3	3	1	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:3319669C>T	ENST00000344733.5	+	2	2676	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RGS12_ENST00000543385.1_Missense_Mutation_p.A591V|RGS12_ENST00000336727.3_Missense_Mutation_p.A591V|RGS12_ENST00000382788.3_Missense_Mutation_p.A591V	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	591					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCAGCTTCGCGCAGCCCCCG	0.577																																						uc003ggw.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1771-1773)gCg>gTg		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							78	93	88					4																	3319669		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319669C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1772C>T	4.37:g.3319669C>T	ENSP00000339381:p.Ala591Val					RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	p.A591V	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	2676	+			591					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.1772C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329174	0.05314	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.30981	1.51;1.61;1.61;1.61	4.83	-0.886	0.10590	.	0.915807	0.09244	N	0.828840	T	0.23806	0.0576	L	0.45581	1.43	0.09310	N	1	B;B;B	0.20550	0.005;0.027;0.046	B;B;B	0.13407	0.002;0.006;0.009	T	0.27297	-1.0078	10	0.44086	T	0.13	-6.3218	6.3471	0.21355	0.0:0.3297:0.3281:0.3422	.	591;591;591	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	V	591	ENSP00000440566:A591V;ENSP00000339381:A591V;ENSP00000338509:A591V;ENSP00000372238:A591V	ENSP00000338509:A591V	A	+	2	0	RGS12	3289467	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.028000	0.12350	-0.125000	0.11703	-0.541000	0.04245	GCG		0.577	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		T	3319669	C	T	3319669	3	4	266	1	0	0	0	0	1	0	0	0	13295	768	27	1	1774	1	RGS12	4	3319669	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		3319669	187834607	13	18979											
AFM	173	broad.mit.edu	37	chr4	74367504	74367504	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacatcttttggccacagGtttcttgtcaacttagtgaa	9	16	8	8	0	3	2	1	2	2	0	3	2	3	2	1	2	1	1	1	2	3	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:74367504G>C	ENST00000226355.3	+	13	1740	c.1647G>C	c.(1645-1647)agG>agC	p.R549S		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	549	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGCCACAGGTTTCTTGTCA	0.388																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.e13-1		Homo sapiens afamin (AFM), mRNA.							73	72	72					4																	74367504		2203	4300	6503	SO:0001630	splice_region_variant	173				vitamin transport		vitamin E binding	g.chr4:74367504G>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1647-1G>C	4.37:g.74367504G>C							p.R549_splice	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1678	+	Breast(15;0.00102)		549			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1647_splice	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358723	0.41801	.	.	ENSG00000079557	ENST00000226355	T	0.73152	-0.72	4.94	4.09	0.47781	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.409096	0.25494	N	0.030291	T	0.72203	0.3431	L	0.42245	1.32	0.80722	D	1	D	0.57571	0.98	P	0.57846	0.828	T	0.69712	-0.5071	9	.	.	.	.	9.5055	0.39044	0.0989:0.0:0.9011:0.0	.	549	P43652	AFAM_HUMAN	S	549	ENSP00000226355:R549S	.	R	+	3	2	AFM	74586368	0.997000	0.39634	0.993000	0.49108	0.068000	0.16541	0.477000	0.22196	1.211000	0.43351	0.650000	0.86243	AGG		0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		Missense_Mutation	C	74367504	G	C	74367504	5	2	266	1	0	0	0	0	0	0	1	0	361	1275	44	5	1697	5	AFM	4	74367504	Splice_Site	SNP	G	TCGA-76-6191-01A-12D-1696-08	71047835	74367504	116786772	14	18980											
RXFP1	59350	broad.mit.edu	37	chr4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagattgaaaatcttccacCgcttatattcaaggacctga	14	12	6	9	1	2	3	1	2	1	1	3	4	3	4	3	1	0	1	3	1	6	6	rs200427299		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:159554592C>T	ENST00000307765.5	+	12	1186	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000460056.2_Missense_Mutation_p.P231L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P207L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P279L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289																																						uc003ipz.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(934-936)cCg>cTg		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.		C	LEU/PRO	0,3606		0,0,1803	76	75	75		935	3.9	0.5	4		75	2,8154		0,2,4076	yes	missense	RXFP1	NM_021634.2	98	0,2,5879	TT,TC,CC		0.0245,0.0,0.017	benign	312/758	159554592	2,11760	1803	4078	5881	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159554592C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.935C>T	4.37:g.159554592C>T	ENSP00000303248:p.Pro312Leu					RXFP1_uc010iqj.2_Missense_Mutation_p.P141L|RXFP1_uc010iqk.3_Missense_Mutation_p.P180L|RXFP1_uc011cja.2_Missense_Mutation_p.P207L|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.P231L|RXFP1_uc011cjd.2_Missense_Mutation_p.P231L|RXFP1_uc010iql.3_Missense_Mutation_p.P156L|RXFP1_uc011cje.2_Missense_Mutation_p.P339L|RXFP1_uc010iqm.3_Missense_Mutation_p.P279L|RXFP1_uc011cjf.2_Missense_Mutation_p.P182L|RXFP1_uc010iqn.3_Missense_Mutation_p.P258L	p.P312L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	11	1198	+	all_hematologic(180;0.24)	Renal(120;0.0854)	312					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.935C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074080	0.55646	0.0	2.45E-4	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000470033;ENST00000440678	T;T;T;T	0.60424	0.27;3.41;0.19;3.41	4.74	3.88	0.44766	.	0.172571	0.51477	D	0.000082	T	0.58177	0.2104	M	0.70903	2.155	0.46336	D	0.998998	B;P;B;P;B;P;P;P	0.46327	0.439;0.813;0.16;0.814;0.083;0.846;0.876;0.819	B;B;B;B;B;B;B;B	0.43658	0.072;0.426;0.072;0.3;0.044;0.426;0.412;0.158	T	0.58940	-0.7547	10	0.38643	T	0.18	.	12.0137	0.53301	0.1734:0.8266:0.0:0.0	.	323;339;207;279;231;182;249;312	B3KV27;B4DGP2;B4DHD1;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	231;312;207;279;182	ENSP00000423306:P231L;ENSP00000303248:P312L;ENSP00000414885:P207L;ENSP00000420712:P279L	ENSP00000303248:P312L	P	+	2	0	RXFP1	159774042	0.429000	0.25530	0.519000	0.27824	0.888000	0.51559	0.781000	0.26774	0.947000	0.37659	0.491000	0.48974	CCG		0.289	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		T	159554592	C	T	159554592	3	4	266	1	0	0	0	0	1	0	0	0	13759	652	23	2	981	2	RXFP1	4	159554592	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	85187088	159554592	31599684	15	18981											
SPOCK3	50859	broad.mit.edu	37	chr4	167663205	167663205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgagctcagtctggcaagGtgggtctgcaatgacattaa	10	10	13	8	0	3	2	1	2	2	0	3	2	3	2	0	3	2	4	0	3	3	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:167663205G>T	ENST00000357154.3	-	10	1083	c.946C>A	c.(946-948)Cct>Act	p.P316T	SPOCK3_ENST00000511269.1_Missense_Mutation_p.P313T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.P316T|SPOCK3_ENST00000510741.1_Missense_Mutation_p.P273T|SPOCK3_ENST00000502330.1_Missense_Mutation_p.P316T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.P313T|SPOCK3_ENST00000535728.1_Missense_Mutation_p.P184T|SPOCK3_ENST00000541637.1_Missense_Mutation_p.P218T|SPOCK3_ENST00000541354.1_Missense_Mutation_p.P196T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.P218T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.P316T|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.P313T|SPOCK3_ENST00000534949.1_Missense_Mutation_p.P220T|SPOCK3_ENST00000421836.2_Missense_Mutation_p.P265T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	316	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GTCTGGCAAGGTGGGTCTGCA	0.373																																						uc011cjq.1																			0		p.R324L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(973-975)Cct>Act		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							101	101	101					4																	167663205		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167663205G>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.946C>A	4.37:g.167663205G>T	ENSP00000349677:p.Pro316Thr					SPOCK3_uc021xuf.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003iri.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cjp.2_Missense_Mutation_p.P273T|SPOCK3_uc011cju.1_Missense_Mutation_p.P220T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T	p.P325T	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	7	1030	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	316			Thyroglobulin type-1.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.973C>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873175	0.72180	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.38	5.38	0.77491	Thyroglobulin type-1 (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.997;0.997;0.994;0.996	D	0.85068	0.0938	10	0.54805	T	0.06	-16.1159	19.4798	0.95005	0.0:0.0:1.0:0.0	.	218;220;265;325;273;313;316	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	T	316;313;313;316;316;316;273;196;218;313;184;265;218;220	ENSP00000349677:P316T;ENSP00000350153:P313T;ENSP00000425570:P313T;ENSP00000420920:P316T;ENSP00000423421:P316T;ENSP00000423606:P316T;ENSP00000426716:P273T;ENSP00000444789:P196T;ENSP00000426318:P218T;ENSP00000425502:P313T;ENSP00000441396:P184T;ENSP00000411344:P265T;ENSP00000445430:P218T;ENSP00000438142:P220T	ENSP00000349677:P316T	P	-	1	0	SPOCK3	167899780	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.323000	0.90002	2.668000	0.90789	0.643000	0.83706	CCT		0.373	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			T	167663205	G	T	167663205	3	4	266	1	0	0	0	0	1	0	0	0	15080	1261	44	5	376	5	SPOCK3	4	167663205	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	8108613	167663205	23491071	16	18982											
NMUR2	56923	broad.mit.edu	37	chr5	151775094	151775094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaaagctgaagaagagtCggtcaatgtggaacggggcc	13	5	14	9	2	1	3	1	1	0	2	2	4	1	4	2	4	2	1	2	4	5	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr5:151775094C>T	ENST00000255262.3	-	3	1028	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	288					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGAAGAGTCGGTCAATGTG	0.483																																						uc003luv.2																			0		p.R288R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(862-864)cGa>cAa		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							156	134	142					5																	151775094		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151775094C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.863G>A	5.37:g.151775094C>T	ENSP00000255262:p.Arg288Gln						p.R288Q	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		2	1029	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	288					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.863G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784953	0.96937	.	.	ENSG00000132911	ENST00000255262	T	0.37915	1.17	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.62853	0.2462	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61884	-0.6971	10	0.51188	T	0.08	-14.9202	19.0512	0.93046	0.0:1.0:0.0:0.0	.	288	Q9GZQ4	NMUR2_HUMAN	Q	288	ENSP00000255262:R288Q	ENSP00000255262:R288Q	R	-	2	0	NMUR2	151755287	1.000000	0.71417	0.534000	0.28014	0.968000	0.65278	7.193000	0.77780	2.735000	0.93741	0.655000	0.94253	CGA		0.483	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		T	151775094	C	T	151775094	3	4	266	1	0	0	0	0	1	0	0	0	10507	884	31	2	392	2	NMUR2	5	151775094	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		151775094	29140166	17	18983											
DDAH2	23564	broad.mit.edu	37	chr6	31696723	31696723	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtcgccaagcagcggTcccagcggcaatgactcctc	7	6	12	16	4	0	1	0	1	0	0	4	1	2	1	4	2	3	2	4	2	2	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:31696723T>C	ENST00000375789.2	-	1	846	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DDAH2_ENST00000375792.3_Silent_p.G72G|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375787.2_Silent_p.G72G			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	72					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAAGCAGCGGTCCCAGCGGCA	0.662																																						uc003nwp.3																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(214-216)ggA>ggG		Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	L-Citrulline(DB00155)						87	56	67					6																	31696723		1511	2708	4219	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31696723T>C	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.216A>G	6.37:g.31696723T>C						DDAH2_uc003nwq.3_Silent_p.G72G	p.G72G	NM_013974	NP_039268	O95865	DDAH2_HUMAN			0	847	-			72					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.216A>G	CCDS4718.1																																																																																				0.662	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			C	31696723	T	C	31696723	2	2	266	1	0	0	0	0	0	0	0	1	4322	1654	58	4		4	DDAH2	6	31696723	Silent	SNP	T	TCGA-76-6191-01A-12D-1696-08		31696723	139418344	18	18984											
LPA	4018	broad.mit.edu	37	chr6	161007524	161007524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggaactgggaccaccgtGggagttgtgaggagagttga	9	9	17	6	1	0	3	0	2	0	1	0	7	0	6	2	4	1	2	2	4	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:161007524G>T	ENST00000316300.5	-	25	4130	c.4086C>A	c.(4084-4086)ccC>ccA	p.P1362P	LPA_ENST00000447678.1_Silent_p.P1362P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3870	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGACCACCGTGGGAGTTGTGA	0.498																																						uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4084-4086)ccC>ccA		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)						128	127	127					6																	161007524		2051	4237	6288	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007524G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4086C>A	6.37:g.161007524G>T							p.P1362P	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	25	4206	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3870			Kringle 12.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4086C>A	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161007524	G	T	161007524	2	4	266	1	0	0	0	0	0	0	0	1	8903	1335	47	5		5	LPA	6	161007524	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	129310801	161007524	10107543	19	18985											
CCR6	1235	broad.mit.edu	37	chr6	167549965	167549965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggtctatgacagacGtctatctcttgaacatggcc	10	10	10	11	1	3	3	0	2	3	1	4	3	3	3	2	3	1	0	2	3	3	3	rs76452893		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:167549965G>A	ENST00000341935.5	+	3	799	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CCR6_ENST00000400926.2_Missense_Mutation_p.V83I|CCR6_ENST00000349984.4_Missense_Mutation_p.V83I|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	83					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TATGACAGACGTCTATCTCTT	0.488													G|||	1	0.000199681	0	0	5008	,	,		21532	0.001		0	False		,,,				2504	0					uc003qvl.3																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(247-249)Gtc>Atc		Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.							161	161	161					6																	167549965		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167549965G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.247G>A	6.37:g.167549965G>A	ENSP00000343952:p.Val83Ile					CCR6_uc010kkm.3_Missense_Mutation_p.V83I|CCR6_uc003qvn.4_Missense_Mutation_p.V83I|CCR6_uc003qvm.4_Missense_Mutation_p.V83I	p.V83I	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	12	2723	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	83					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.247G>A	CCDS5298.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.388	1.074858	0.20227	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.70749	-0.51;-0.51;-0.51	4.87	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.198261	0.31797	U	0.007047	T	0.49423	0.1556	L	0.38838	1.175	0.43334	D	0.995371	D	0.60160	0.987	P	0.55222	0.771	T	0.56745	-0.7928	10	0.05959	T	0.93	.	10.1064	0.42535	0.1637:0.0:0.8363:0.0	.	83	P51684	CCR6_HUMAN	I	83	ENSP00000383715:V83I;ENSP00000343952:V83I;ENSP00000339393:V83I	ENSP00000343952:V83I	V	+	1	0	CCR6	167469955	0.951000	0.32395	0.021000	0.16686	0.062000	0.15995	1.479000	0.35453	0.462000	0.27095	-0.258000	0.10820	GTC		0.488	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			A	167549965	G	A	167549965	3	1	266	1	0	0	0	0	1	0	0	0	2945	1145	40	1	253	1	CCR6	6	167549965	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	6542441	167549965	3565102	20	18986											
USP42	84132	broad.mit.edu	37	chr7	6189342	6189342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcttctgtccaaaactgGtcagttaataggtcctcagt	10	13	8	10	0	4	0	3	0	1	0	6	0	6	0	2	2	2	2	2	2	4	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:6189342G>T	ENST00000306177.5	+	13	1673	c.1515G>T	c.(1513-1515)tgG>tgT	p.W505C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	505					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAAAACTGGTCAGTTAATA	0.443																																						uc011jwo.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1513-1515)tgG>tgT		Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.							118	113	114					7																	6189342		1907	4126	6033	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189342G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1515G>T	7.37:g.6189342G>T	ENSP00000301962:p.Trp505Cys					USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.2_Missense_Mutation_p.W505C|USP42_uc011jwq.2_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C	p.W505C	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	1638	+		Ovarian(82;0.0423)	505					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1515G>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993855	0.74703	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.15834	2.39;3.12;2.81	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.42177	0.1191	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;D;D;D	0.69824	0.891;0.966;0.926;0.926	T	0.05835	-1.0861	10	0.54805	T	0.06	.	18.5139	0.90928	0.0:0.0:1.0:0.0	.	468;505;505;505	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	C	505;438;351	ENSP00000301962:W505C;ENSP00000430568:W438C;ENSP00000408217:W351C	ENSP00000301962:W505C	W	+	3	0	USP42	6155868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.942000	0.56614	2.818000	0.97014	0.591000	0.81541	TGG		0.443	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		T	6189342	G	T	6189342	3	4	266	1	0	0	0	0	1	0	0	0	17070	1270	44	5	1561	5	USP42	7	6189342	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		6189342	152949321	21	18987											
SKAP2	8935	broad.mit.edu	37	chr7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtttaccttttctgcGtttttcaaggtagccagcct	6	17	7	11	1	3	0	2	0	1	0	3	0	3	0	3	1	4	3	3	1	3	8			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:26779515G>A	ENST00000345317.2	-	5	689	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R126C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373																																						uc003syc.3																			1	Substitution - Missense(1)	p.R126C(2)	skin(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(376-378)Cgc>Tgc		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							74	70	71					7																	26779515		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26779515G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.376C>T	7.37:g.26779515G>A	ENSP00000005587:p.Arg126Cys					SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R111C	p.R126C	NM_003930	NP_003921	O75563	SKAP2_HUMAN			4	669	-			126			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.376C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058233	0.76074	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.14391	2.51;2.51	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.06391	-1.0829	10	0.87932	D	0	-25.7679	17.008	0.86398	0.0:0.0:1.0:0.0	.	111;126	B7Z5N4;O75563	.;SKAP2_HUMAN	C	126;111;111	ENSP00000005587:R126C;ENSP00000408163:R111C	ENSP00000005587:R126C	R	-	1	0	SKAP2	26746040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.504000	0.66968	2.746000	0.94184	0.591000	0.81541	CGC		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			A	26779515	G	A	26779515	3	1	266	1	0	0	0	0	1	0	0	0	14356	1145	40	1	735	1	SKAP2	7	26779515	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	20590173	26779515	132359148	22	18988											
EGFR	1956	broad.mit.edu	37	chr7	55233110	55233110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccatgtgtgccacctgtgCcatccaaactgcacctacgg	8	8	10	15	1	0	0	0	0	0	0	1	0	1	0	6	2	5	1	6	2	2	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:55233110C>G	ENST00000275493.2	+	15	2037	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W	EGFR_ENST00000442591.1_Missense_Mutation_p.C620W|EGFR_ENST00000454757.2_Missense_Mutation_p.C567W|EGFR_ENST00000455089.1_Missense_Mutation_p.C575W|EGFR_ENST00000342916.3_Missense_Mutation_p.C620W|EGFR_ENST00000344576.2_Missense_Mutation_p.C620W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	620					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.C620W(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCCACCTGTGCCATCCAAACT	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.C620W(2)|p.C620Y(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1858-1860)tgC>tgG		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68	62	64					7																	55233110		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233110C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1860C>G	7.37:g.55233110C>G	ENSP00000275493:p.Cys620Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.C620W|EGFR_uc003tqj.3_Missense_Mutation_p.C620W|EGFR_uc022adm.1_Missense_Mutation_p.C620W|EGFR_uc010kzg.2_Missense_Mutation_p.C575W|EGFR_uc022adn.1_Missense_Mutation_p.C575W|EGFR_uc011kco.2_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.C620W	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2106	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		620					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1860C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005590	0.54254	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.87	4.07	0.47477	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	H	0.97874	4.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.86868	0.2034	10	0.87932	D	0	.	8.3815	0.32474	0.0:0.7659:0.0:0.2341	.	575;620;620;620	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	W	575;620;490;620;620;620;567;414	ENSP00000415559:C575W;ENSP00000342376:C620W;ENSP00000345973:C620W;ENSP00000275493:C620W;ENSP00000410031:C620W;ENSP00000395243:C567W	ENSP00000275493:C620W	C	+	3	2	EGFR	55200604	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	2.137000	0.42130	1.501000	0.48654	-0.136000	0.14681	TGC		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55233110	C	G	55233110	3	3	266	1	0	0	0	0	1	0	0	0	4967	747	26	5	1929	5	EGFR	7	55233110	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	28453595	55233110	103905553	23	18989											
CCDC132	55610	broad.mit.edu	37	chr7	92932809	92932809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaatgttcttagagaatGagacttgggaactttgtcct	11	14	11	5	0	1	3	0	2	1	3	2	7	2	4	1	1	1	1	1	1	4	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:92932809G>C	ENST00000305866.5	+	17	1527	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CCDC132_ENST00000541136.1_Missense_Mutation_p.E278Q|CCDC132_ENST00000317751.6_Missense_Mutation_p.E198Q|CCDC132_ENST00000544910.1_Missense_Mutation_p.E437Q|CCDC132_ENST00000535481.1_Missense_Mutation_p.E187Q	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	467						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTAGAGAATGAGACTTGGGA	0.343																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1399-1401)Gag>Cag		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							135	130	132					7																	92932809		1824	4082	5906	SO:0001583	missense	55610							g.chr7:92932809G>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1399G>C	7.37:g.92932809G>C	ENSP00000307666:p.Glu467Gln					CCDC132_uc003ump.3_Missense_Mutation_p.E437Q|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.E187Q	p.E467Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		16	1527	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		467					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1399G>C	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.861774|4.861774	0.91433|0.91433	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.71461|.	-0.57|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78799|0.78799	0.4340|0.4340	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61080|.	0.981;0.989;0.981|.	D;D;D|.	0.72982|.	0.954;0.979;0.954|.	T|T	0.79624|0.79624	-0.1726|-0.1726	10|5	0.72032|.	D|.	0.01|.	-15.597|-15.597	18.7132|18.7132	0.91666|0.91666	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	187;437;467|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	Q|I	467;437;278;187;198|253	ENSP00000325582:E198Q|.	ENSP00000307666:E467Q|.	E|M	+|+	1|3	0|0	CCDC132|CCDC132	92770745|92770745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.730000|7.730000	0.84881|0.84881	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		C	92932809	G	C	92932809	3	2	266	1	0	0	0	0	1	0	0	0	2767	1291	45	5	1507	5	CCDC132	7	92932809	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	37699699	92932809	66205854	24	18990											
TRRAP	8295	broad.mit.edu	37	chr7	98547126	98547126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaccctgctgctgccgggGggtgcccagacggctgtgcg	4	7	16	14	3	1	1	1	0	0	1	1	1	1	1	3	4	5	3	3	4	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:98547126G>A	ENST00000359863.4	+	35	5063	c.4854G>A	c.(4852-4854)ggG>ggA	p.G1618G	TRRAP_ENST00000355540.3_Silent_p.G1600G|TRRAP_ENST00000446306.3_Silent_p.G1599G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1618					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGCCGGGGGGTGCCCAGA	0.617																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4852-4854)ggG>ggA		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							29	34	32					7																	98547126		2203	4299	6502	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98547126G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4854G>A	7.37:g.98547126G>A						TRRAP_uc011kis.2_Silent_p.G1600G|TRRAP_uc003upr.3_Silent_p.G1317G	p.G1618G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		34	5063	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1618					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4854G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	0.532	-0.857551	0.02630	.	.	ENSG00000196367	ENST00000456197	T	0.02863	4.13	5.97	-11.9	0.00025	.	0.174238	0.50627	D	0.000113	T	0.02119	0.0066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56890	-0.7904	7	0.10636	T	0.68	.	13.2265	0.59916	0.0:0.4432:0.324:0.2328	.	.	.	.	E	1340	ENSP00000394645:G1340E	ENSP00000394645:G1340E	G	+	2	0	TRRAP	98385062	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.891000	0.01611	-3.864000	0.00097	-0.188000	0.12872	GGG		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98547126	G	A	98547126	2	1	266	1	0	0	0	0	0	0	0	1	16598	1219	43	3		3	TRRAP	7	98547126	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	5614317	98547126	60591537	25	18991											
CUL1	8454	broad.mit.edu	37	chr7	148495685	148495685	+	Frame_Shift_Del	DEL	C	C	-																															aagaaattaagggttaacatCaatgtgccaatgaaaaccga																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:148495685delC	ENST00000325222.4	+	20	2331	c.2052delC	c.(2050-2052)atcfs	p.I684fs	CUL1_ENST00000602748.1_Frame_Shift_Del_p.I684fs|CUL1_ENST00000409469.1_Frame_Shift_Del_p.I684fs	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	684					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGTTAACATCAATGTGCCAA	0.373																																						uc010lpg.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(2050-2052)atcfs		Homo sapiens cullin 1 (CUL1), mRNA.							166	153	157					7																	148495685		2203	4300	6503	SO:0001589	frameshift_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148495685delC	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2052delC	7.37:g.148495685delC	ENSP00000326804:p.Ile684fs					CUL1_uc003wey.3_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.3_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.3_Frame_Shift_Del_p.I345fs	p.I684fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		19	2578	+	Melanoma(164;0.15)		684					D3DWG3|O60719|Q08AL6|Q8IYW1	Frame_Shift_Del	DEL	ENST00000325222.4	37	c.2052delC	CCDS34772.1																																																																																				0.373	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		-	148495685	C	-	148495685	7	5	266	1	0	1	0	1	0	0	0	0	4054	816	29	0	2126	0	CUL1	7	148495685	Frame_Shift_Del	DEL	C	TCGA-76-6191-01A-12D-1696-08	49948559	148495685	10642978	26	18992											
SOX7	83595	broad.mit.edu	37	chr8	10583718	10583718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcaggtgggggatgcGgcggggatggccatgctcct	4	7	19	11	2	0	0	0	0	0	0	1	2	1	2	3	8	2	2	3	8	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:10583718G>A	ENST00000304501.1	-	2	775	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	SOX7_ENST00000554914.1_Missense_Mutation_p.R285C|SOX7_ENST00000553390.1_Missense_Mutation_p.R285C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	233					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGGGGGATGCGGCGGGGATGG	0.692																																						uc011kwz.2																			0		p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(853-855)Cgc>Tgc		Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.							23	30	28					8																	10583718		2184	4251	6435	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583718G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.697C>T	8.37:g.10583718G>A	ENSP00000301921:p.Arg233Cys					SOX7_uc003wtf.3_Missense_Mutation_p.R233C	p.R285C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	5	886	-			233			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.853C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	6.192	0.403646	0.11754	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99470	-5.0;-5.96;-5.96	4.89	4.01	0.46588	.	0.331371	0.27936	N	0.017242	D	0.95020	0.8388	N	0.00991	-1.07	0.33861	D	0.633812	B;B	0.14012	0.009;0.004	B;B	0.12156	0.002;0.007	D	0.94335	0.7565	10	0.38643	T	0.18	.	9.4745	0.38862	0.1004:0.0:0.8996:0.0	.	285;233	B4DKV0;Q9BT81	.;SOX7_HUMAN	C	233;285;285	ENSP00000301921:R233C;ENSP00000452017:R285C;ENSP00000451145:R285C	ENSP00000346908:R285C	R	-	1	0	SOX7;CTD-2135J3.4	10621128	0.993000	0.37304	0.408000	0.26446	0.161000	0.22273	2.586000	0.46119	1.034000	0.39945	0.462000	0.41574	CGC		0.692	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			A	10583718	G	A	10583718	3	1	266	1	0	0	0	0	1	0	0	0	14956	1116	39	2	473	2	SOX7	8	10583718	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		10583718	135780304	27	18993											
DOK2	9046	broad.mit.edu	37	chr8	21767417	21767417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccagagacgcagcgaCggcctgcctcaaaggaaaag	12	4	11	14	3	2	1	1	0	1	1	3	4	2	2	4	2	2	1	4	2	3	0	rs200503110		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:21767417C>T	ENST00000276420.4	-	5	902	c.644G>A	c.(643-645)cGt>cAt	p.R215H	DOK2_ENST00000544659.1_Missense_Mutation_p.R61H	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	215	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GACGCAGCGACGGCCTGCCTC	0.522																																						uc003wzx.1																			0		p.G214F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(643-645)cGt>cAt		Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.							44	42	43					8																	21767417		2200	4291	6491	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767417C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.644G>A	8.37:g.21767417C>T	ENSP00000276420:p.Arg215His					DOK2_uc003wzy.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	p.R215H	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	737	-			215			IRS-type PTB.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.644G>A	CCDS6016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.024268|2.024268	0.35701|0.35701	.|.	.|.	ENSG00000147443|ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197|ENST00000523932	D;D;D|T	0.86097|0.43688	-2.07;-2.07;-2.07|0.94	4.73|4.73	4.73|4.73	0.59995|0.59995	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70789|0.70789	0.3264|0.3264	M|M	0.93978|0.93978	3.48|3.48	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.77043|0.77043	-0.2734|-0.2734	10|7	0.72032|0.35671	D|T	0.01|0.21	.|.	16.5224|16.5224	0.84320|0.84320	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	215;215|.	O60496;A8K7W1|.	DOK2_HUMAN;.|.	H|I	215;61;61|208	ENSP00000276420:R215H;ENSP00000443602:R61H;ENSP00000430729:R61H|ENSP00000429224:V208I	ENSP00000276420:R215H|ENSP00000429224:V208I	R|V	-|-	2|1	0|0	DOK2|DOK2	21823363|21823363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.624000|0.624000	0.37722|0.37722	7.096000|7.096000	0.76960|0.76960	2.187000|2.187000	0.69744|0.69744	0.449000|0.449000	0.29647|0.29647	CGT|GTC		0.522	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		T	21767417	C	T	21767417	3	4	266	1	0	0	0	0	1	0	0	0	4697	536	19	1	598	1	DOK2	8	21767417	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	11183699	21767417	124596605	28	18994											
KCNU1	157855	broad.mit.edu	37	chr8	36642023	36642023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcattcattctctcttcctTtgtgaccttcttcagtggac	6	17	6	12	0	5	1	2	1	3	0	7	2	6	2	2	1	1	1	2	1	0	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:36642023T>C	ENST00000399881.3	+	1	132	c.95T>C	c.(94-96)tTt>tCt	p.F32S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	32					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCTCTTCCTTTGTGACCTTC	0.413																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(94-96)tTt>tCt		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							170	156	160					8																	36642023		1956	4147	6103	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36642023T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.95T>C	8.37:g.36642023T>C	ENSP00000382770:p.Phe32Ser					KCNU1_uc003xjw.2_Non-coding_Transcript	p.F32S	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	0	182	+			32						Missense_Mutation	SNP	ENST00000399881.3	37	c.95T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359617	0.24598	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.32023	1.47;1.49	5.49	4.32	0.51571	.	.	.	.	.	T	0.25082	0.0609	L	0.34521	1.04	0.45464	D	0.998432	P	0.44877	0.845	B	0.41860	0.368	T	0.02933	-1.1092	9	0.87932	D	0	.	9.8937	0.41304	0.0:0.0:0.1713:0.8286	.	32	A8MYU2	KCNU1_HUMAN	S	32	ENSP00000429951:F32S;ENSP00000382770:F32S	ENSP00000382770:F32S	F	+	2	0	KCNU1	36761181	0.090000	0.21635	0.793000	0.32043	0.065000	0.16274	0.810000	0.27183	1.007000	0.39238	0.528000	0.53228	TTT		0.413	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		C	36642023	T	C	36642023	3	2	266	1	0	0	0	0	1	0	0	0	8093	1841	64	4	97	4	KCNU1	8	36642023	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	14874606	36642023	109721999	29	18995											
ZFAND1	79752	broad.mit.edu	37	chr8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttggcacctttccatcGtttacttgctgtttctcctg	4	20	6	11	1	1	0	0	0	1	0	4	0	2	0	3	1	2	4	3	1	1	7			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																						uc003ycj.2																			3	Substitution - Nonsense(3)	p.R130*(6)	lung(1)|ovary(1)|prostate(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(388-390)Cga>Tga		Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.							187	158	168					8																	82626245		2203	4299	6502	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82626245G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*					ZFAND1_uc010lzx.2_Nonsense_Mutation_p.R130*|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Nonsense_Mutation_p.R23*|ZFAND1_uc003yck.2_Nonsense_Mutation_p.R23*|ZFAND1_uc022awv.1_Nonsense_Mutation_p.R130*|ZFAND1_uc022aww.1_Nonsense_Mutation_p.R23*	p.R130*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			5	411	-			130					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.388C>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		A	82626245	G	A	82626245	4	1	266	1	0	0	0	0	0	1	0	0	17623	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	45984222	82626245	63737777	30	18996											
ANKRD46	157567	broad.mit.edu	37	chr8	101541822	101541823	+	Frame_Shift_Del	DEL	TG	TG	-																															tggccacagaggtgaagagcTgtgtttccttgataatctgt																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:101541822_101541823delTG	ENST00000520552.1	-	3	400_401	c.239_240delCA	c.(238-240)acafs	p.T80fs	ANKRD46_ENST00000335659.3_Frame_Shift_Del_p.T80fs|ANKRD46_ENST00000519316.1_Frame_Shift_Del_p.T80fs|ANKRD46_ENST00000520311.1_Frame_Shift_Del_p.T80fs|ANKRD46_ENST00000519597.1_Frame_Shift_Del_p.T80fs	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	80						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGTGAAGAGCTGTGTTTCCTTG	0.436																																						uc003yjo.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(238-240)acafs		Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.																																				SO:0001589	frameshift_variant	157567					integral to membrane		g.chr8:101541822_101541823delTG	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"Ankyrin repeat domain containing"	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.239_240delCA	8.37:g.101541824_101541825delTG	ENSP00000429015:p.Thr80fs					ANKRD46_uc003yjm.3_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs	p.T80fs	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	548_549	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		80					Q6P9B7	Frame_Shift_Del	DEL	ENST00000520552.1	37	c.239_240delCA	CCDS59109.1																																																																																				0.436	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		-	101541823	TG	-	101541822	7	5	266	1	0	1	0	1	0	0	0	0	674	1567	55	0	458	0	ANKRD46	8	101541822	Frame_Shift_Del	DEL	TG	TCGA-76-6191-01A-12D-1696-08	18915577	101541822	44822200	31	18997											
GRIN3A	116443	broad.mit.edu	37	chr9	104335628	104335628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttcccattggtggtcCgcaaggcagggagctctctt	5	12	12	12	1	1	0	0	0	1	0	4	1	3	1	2	4	2	4	2	4	1	3	rs199945164		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:104335628C>T	ENST00000361820.3	-	9	3776	c.3176G>A	c.(3175-3177)cGg>cAg	p.R1059Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1059					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.R1059Q(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATTGGTGGTCCGCAAGGCAGG	0.527													A|||	1	0.000199681	0	0	5008	,	,		20403	0.001		0	False		,,,				2504	0					uc004bbp.2																			1	Substitution - Missense(1)	p.R1059Q(2)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(3175-3177)cGg>cAg		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						123	112	116					9																	104335628		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335628C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3176G>A	9.37:g.104335628C>T	ENSP00000355155:p.Arg1059Gln					GRIN3A_uc004bbo.2_Missense_Mutation_p.R134Q	p.R1059Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			8	3777	-		Acute lymphoblastic leukemia(62;0.0568)	1059					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3176G>A	CCDS6758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	22.4	4.282755	0.80692	.	.	ENSG00000198785	ENST00000361820	T	0.09817	2.94	5.38	4.24	0.50183	.	1.055380	0.07504	N	0.907779	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41106	-0.9527	10	0.72032	D	0.01	.	8.4598	0.32921	0.7997:0.132:0.0683:0.0	.	1059	Q8TCU5	NMD3A_HUMAN	Q	1059	ENSP00000355155:R1059Q	ENSP00000355155:R1059Q	R	-	2	0	GRIN3A	103375449	0.996000	0.38824	0.926000	0.36857	0.566000	0.35808	2.611000	0.46334	0.442000	0.26555	-0.256000	0.11100	CGG		0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104335628	C	T	104335628	3	4	266	1	0	0	0	0	1	0	0	0	6783	652	23	2	175	2	GRIN3A	9	104335628	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		104335628	36877803	32	18998											
DBC1	1620	broad.mit.edu	37	chr9	122000991	122000991	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaactcacagagtccagAttgtcatagctgttacagcc	12	9	9	11	1	2	2	2	0	0	2	3	3	3	3	2	1	4	2	2	1	3	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:122000991A>G	ENST00000265922.3	-	5	1088	c.627T>C	c.(625-627)aaT>aaC	p.N209N	BRINP1_ENST00000373964.2_Silent_p.N209N	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	209	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CAGAGTCCAGATTGTCATAGC	0.507																																						uc004bkc.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(625-627)aaT>aaC		Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.							131	94	107					9																	122000991		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122000991A>G	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.627T>C	9.37:g.122000991A>G						DBC1_uc004bkd.2_Silent_p.N209N	p.N209N	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	1083	-			209			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.627T>C	CCDS6822.1																																																																																				0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		G	122000991	A	G	122000991	2	3	266	1	0	0	0	0	0	0	0	1	4247	330	12	4		4	DBC1	9	122000991	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08	17665363	122000991	19212440	33	18999											
PTEN	5728	broad.mit.edu	37	chr10	89624299	89624299	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatggattcgacttagacTtgacctgtatccatttctgc	9	14	9	9	1	1	2	0	1	1	1	3	5	2	4	2	2	1	1	2	2	2	5	rs398123326		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr10:89624299T>G	ENST00000371953.3	+	1	1430	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.D24_L25del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGACTTAGACTTGACCTGTAT	0.463		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Unknown(13)|Deletion - In frame(1)	p.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.L25F(2)|p.D24_L25del(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(73-75)Ttg>Gtg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							163	155	158					10																	89624299		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624299T>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.73T>G	10.37:g.89624299T>G	ENSP00000361021:p.Leu25Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	p.L25V	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	0	1105	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	25			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.73T>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067259	0.55539	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.164389	0.41605	D	0.000848	D	0.97383	0.9144	M	0.83603	2.65	0.58432	D	0.999999	P	0.36144	0.539	B	0.34991	0.193	D	0.95988	0.8983	9	.	.	.	-0.0822	6.7194	0.23323	0.0:0.1717:0.0:0.8283	.	25	P60484	PTEN_HUMAN	V	25	ENSP00000361021:L25V	.	L	+	1	2	PTEN	89614279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.055000	0.41345	1.996000	0.58369	0.459000	0.35465	TTG		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89624299	T	G	89624299	3	3	266	1	0	0	0	0	1	0	0	0	12738	1606	56	5	75	5	PTEN	10	89624299	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		89624299	45910448	34	19000											
TSPAN32	10077	broad.mit.edu	37	chr11	2334954	2334954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtacgtcccacgtccGgcggcaggagctggcggcca	8	4	16	13	5	0	0	0	0	0	0	2	2	2	1	3	6	2	3	3	6	2	1	rs138129469		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:2334954G>A	ENST00000182290.4	+	5	562	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	TSPAN32_ENST00000451520.2_Missense_Mutation_p.R131Q|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R142Q	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	142					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCCCACGTCCGGCGGCAGGAG	0.647																																						uc001lvy.1																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(424-426)cGg>cAg		Homo sapiens tetraspanin 32 (TSPAN32), mRNA.		G	GLN/ARG	1,4399		0,1,2199	56	35	42		425	0.5	0	11	dbSNP_134	42	3,8591		0,3,4294	yes	missense	TSPAN32	NM_139022.2	43	0,4,6493	AA,AG,GG		0.0349,0.0227,0.0308	benign	142/321	2334954	4,12990	2200	4297	6497	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2334954G>A	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.425G>A	11.37:g.2334954G>A	ENSP00000182290:p.Arg142Gln					TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.2_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	p.R142Q	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	562	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	142					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.425G>A	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	G	2.733	-0.263992	0.05754	2.27E-4	3.49E-4	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000381117	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.61	0.543	0.17179	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	2.728140	0.01433	N	0.014815	T	0.59865	0.2225	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.001;0.014;0.003;0.005	B;B;B;B;B	0.12156	0.007;0.001;0.004;0.002;0.005	T	0.40021	-0.9585	9	.	.	.	0.5283	2.302	0.04164	0.1152:0.1904:0.4986:0.1958	.	129;142;87;142;142	B4DQ90;Q96QS1-5;G3XAG6;Q96QS1-3;Q96QS1	.;.;.;.;TSN32_HUMAN	Q	142;142;131;87	ENSP00000182290:R142Q;ENSP00000370513:R142Q;ENSP00000405205:R131Q;ENSP00000370509:R87Q	.	R	+	2	0	TSPAN32	2291530	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.037000	0.13840	-0.126000	0.11682	0.484000	0.47621	CGG		0.647	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		A	2334954	G	A	2334954	3	1	266	1	0	0	0	0	1	0	0	0	16644	1116	39	2	443	2	TSPAN32	11	2334954	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		2334954	132671562	35	19001											
OR52R1	119695	broad.mit.edu	37	chr11	4825512	4825512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcatacgtggcacagaaCggaaaggcaatccacaactg	16	4	10	11	2	0	1	0	0	0	1	1	2	1	2	1	3	4	3	1	3	5	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:4825512C>T	ENST00000356069.2	-	1	98	c.99G>A	c.(97-99)ccG>ccA	p.P33P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Silent_p.P112P	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACAGAACGGAAAGGCAA	0.512																																						uc021qcs.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(97-99)ccG>ccA		Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.							94	84	87					11																	4825512		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825512C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.99G>A	11.37:g.4825512C>T							p.P33P	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	99	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	33					Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.99G>A	CCDS31360.2																																																																																				0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		T	4825512	C	T	4825512	2	4	266	1	0	0	0	0	0	0	0	1	11131	523	19	1		1	OR52R1	11	4825512	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	2490558	4825512	130181004	36	19002											
OR5D14	219436	broad.mit.edu	37	chr11	55563722	55563722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactgtactaaaaatcCgttctgttagtgggcgccac	9	13	10	9	2	1	1	0	1	1	0	2	1	2	1	2	1	1	3	2	1	5	5	rs143761060		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:55563722C>T	ENST00000335605.1	+	1	691	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473													c|||	1	0.000199681	0	0	5008	,	,		19218	0		0	False		,,,				2504	0.001					uc010rim.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(691-693)Cgt>Tgt		Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.		C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	145	136	139		691	-3	0	11	dbSNP_134	139	0,8592		0,0,4296	no	missense	OR5D14	NM_001004735.1	180	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	231/315	55563722	1,12991	2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563722C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.691C>T	11.37:g.55563722C>T	ENSP00000334456:p.Arg231Cys						p.R231C	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			0	691	+		all_epithelial(135;0.196)	231					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.691C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	3.663	-0.069147	0.07228	2.27E-4	0.0	ENSG00000186113	ENST00000335605	T	0.40225	1.04	5.08	-2.98	0.05513	GPCR, rhodopsin-like superfamily (1);	1.772610	0.03100	N	0.160945	T	0.38719	0.1051	M	0.64260	1.97	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.39761	-0.9598	10	0.62326	D	0.03	1.9449	4.8726	0.13640	0.3427:0.3694:0.0:0.2879	.	231	Q8NGL3	OR5DE_HUMAN	C	231	ENSP00000334456:R231C	ENSP00000334456:R231C	R	+	1	0	OR5D14	55320298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.185000	0.09684	-0.340000	0.08388	-0.148000	0.13756	CGT		0.473	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		T	55563722	C	T	55563722	3	4	266	1	0	0	0	0	1	0	0	0	11155	652	23	2	693	2	OR5D14	11	55563722	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	50738210	55563722	79442794	37	19003											
MS4A6E	245802	broad.mit.edu	37	chr11	60102450	60102450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcccaagcagagaaacccGaacccaccaaccaggggcag	14	2	9	16	1	1	1	0	0	1	1	2	3	1	1	5	2	4	2	5	2	4	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60102450G>A	ENST00000300182.4	+	1	147	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	28						integral component of membrane (GO:0016021)		p.E28*(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AGAGAAACCCGAACCCACCAA	0.443																																						uc001npd.3																			1	Substitution - Nonsense(1)	p.E28*(2)	lung(1)	endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						c.(82-84)Gaa>Aaa		Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.							148	130	136					11																	60102450		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60102450G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.82G>A	11.37:g.60102450G>A	ENSP00000300182:p.Glu28Lys						p.E28K	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			0	96	+			28					Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.82G>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	9.441	1.088183	0.20390	.	.	ENSG00000166926	ENST00000300182	T	0.09350	2.99	2.4	-4.09	0.03951	.	2.704650	0.01354	N	0.012000	T	0.05823	0.0152	N	0.13098	0.295	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.30937	-0.9961	10	0.22706	T	0.39	.	4.3416	0.11113	0.2879:0.215:0.4971:0.0	.	28	Q96DS6	M4A6E_HUMAN	K	28	ENSP00000300182:E28K	ENSP00000300182:E28K	E	+	1	0	MS4A6E	59859026	0.000000	0.05858	0.003000	0.11579	0.428000	0.31595	-1.468000	0.02350	-0.833000	0.04245	0.305000	0.20034	GAA		0.443	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			A	60102450	G	A	60102450	3	1	266	1	0	0	0	0	1	0	0	0	9865	1059	37	2	84	2	MS4A6E	11	60102450	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	4538728	60102450	74904066	38	19004											
MS4A14	84689	broad.mit.edu	37	chr11	60183031	60183031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgattcaacaacaaatgCacaatctgttatctttggag	14	13	7	7	0	3	2	1	2	2	0	3	3	3	3	0	1	3	2	0	1	5	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60183031C>T	ENST00000300187.6	+	5	867	c.590C>T	c.(589-591)gCa>gTa	p.A197V	MS4A14_ENST00000395005.2_Missense_Mutation_p.A180V|MS4A14_ENST00000531783.1_Missense_Mutation_p.A230V|MS4A14_ENST00000531787.1_Missense_Mutation_p.A85V|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	197						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAACAAATGCACAATCTGTT	0.378																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(589-591)gCa>gTa		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							140	136	137					11																	60183031		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183031C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.590C>T	11.37:g.60183031C>T	ENSP00000300187:p.Ala197Val					MS4A14_uc001npi.3_Missense_Mutation_p.A85V|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.A180V|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	p.A197V	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	1155	+			197					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.590C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	5.129	0.209433	0.09757	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.06449	4.21;4.21;4.21;3.3	3.63	-6.11	0.02131	.	6.533710	0.00465	N	0.000104	T	0.03739	0.0106	N	0.16478	0.41	0.09310	N	1	B;B	0.18968	0.025;0.032	B;B	0.14578	0.006;0.011	T	0.37430	-0.9706	10	0.15952	T	0.53	0.0672	6.5788	0.22581	0.0:0.3165:0.1279:0.5556	.	180;197	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	V	85;197;180;230	ENSP00000437222:A85V;ENSP00000300187:A197V;ENSP00000378453:A180V;ENSP00000433761:A230V	ENSP00000300187:A197V	A	+	2	0	MS4A14	59939607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.865000	0.04250	-1.364000	0.02161	-0.355000	0.07637	GCA		0.378	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			T	60183031	C	T	60183031	3	4	266	1	0	0	0	0	1	0	0	0	9858	710	25	3	608	3	MS4A14	11	60183031	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	80581	60183031	74823485	39	19005											
MS4A12	54860	broad.mit.edu	37	chr11	60271232	60271232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggccttcattggagtgaTtctgctgctggtggatatgt	5	16	13	7	0	2	1	1	1	1	0	2	3	2	3	1	4	2	2	1	4	1	5			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60271232T>C	ENST00000016913.4	+	5	587	c.530T>C	c.(529-531)aTt>aCt	p.I177T	MS4A12_ENST00000537076.1_Missense_Mutation_p.I131T	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	177						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGGAGTGATTCTGCTGCTG	0.458																																						uc001npr.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(529-531)aTt>aCt		Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.							190	164	173					11																	60271232		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60271232T>C	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.530T>C	11.37:g.60271232T>C	ENSP00000016913:p.Ile177Thr					MS4A12_uc021qkb.1_Missense_Mutation_p.I131T	p.I177T	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			4	587	+			177					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.530T>C	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	T	6.520	0.464221	0.12402	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.03124	4.04;4.04;4.04	5.26	2.9	0.33743	.	0.189025	0.44285	D	0.000477	T	0.05686	0.0149	L	0.50919	1.6	0.25646	N	0.986143	P	0.46395	0.877	P	0.47603	0.551	T	0.25187	-1.0139	10	0.46703	T	0.11	-6.1855	5.5821	0.17254	0.0:0.0899:0.1729:0.7372	.	177	Q9NXJ0	M4A12_HUMAN	T	131;131;177	ENSP00000440424:I131T;ENSP00000431959:I131T;ENSP00000016913:I177T	ENSP00000016913:I177T	I	+	2	0	MS4A12	60027808	0.001000	0.12720	0.383000	0.26132	0.023000	0.10783	0.629000	0.24538	0.374000	0.24650	-0.316000	0.08728	ATT		0.458	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			C	60271232	T	C	60271232	3	2	266	1	0	0	0	0	1	0	0	0	9856	1493	52	4	544	4	MS4A12	11	60271232	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	88201	60271232	74735284	40	19006											
PPFIA1	8500	broad.mit.edu	37	chr11	70181755	70181755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttcagaatctaatgagagGcttcaacttcatcttaaaga	14	13	6	8	0	5	3	3	1	2	3	5	4	5	3	0	1	1	1	0	1	5	5	rs374923538		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:70181755G>A	ENST00000253925.7	+	11	1598	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.R461R	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	461					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAATGAGAGGCTTCAACTTC	0.403																																						uc001opo.3																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(1381-1383)agG>agA		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.		G	,	3,4397	6.2+/-15.9	0,3,2197	110	111	111		1383,1383	1.1	1	11		111	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	PPFIA1	NM_003626.2,NM_177423.1	,	0,3,6491	AA,AG,GG		0.0,0.0682,0.0231	,	461/1203,461/1186	70181755	3,12985	2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70181755G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1383G>A	11.37:g.70181755G>A						PPFIA1_uc001opn.2_Silent_p.R461R|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	p.R461R	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		10	1598	+			461					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.1383G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163893	0.21538	6.82E-4	0.0	ENSG00000131626	ENST00000530798	.	.	.	5.19	1.15	0.20763	.	.	.	.	.	T	0.51975	0.1706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38286	-0.9668	4	.	.	.	.	5.6246	0.17475	0.2796:0.0:0.5911:0.1293	.	.	.	.	T	13	.	.	A	+	1	0	PPFIA1	69859403	0.999000	0.42202	0.990000	0.47175	0.869000	0.49853	0.575000	0.23729	0.186000	0.20125	0.555000	0.69702	GCT		0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		A	70181755	G	A	70181755	2	1	266	1	0	0	0	0	0	0	0	1	12309	1194	42	3		3	PPFIA1	11	70181755	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	9910523	70181755	64824761	41	19007											
CADM1	23705	broad.mit.edu	37	chr11	115111056	115111056	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgaatcacagagtcgTcactcttattgacttggcaa	11	12	9	9	1	3	3	2	2	1	1	4	3	3	3	0	1	1	3	0	1	4	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:115111056T>A	ENST00000452722.3	-	2	229	c.209A>T	c.(208-210)gAc>gTc	p.D70V	CADM1_ENST00000537058.1_Missense_Mutation_p.D70V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.D70V|CADM1_ENST00000542447.2_Missense_Mutation_p.D70V|CADM1_ENST00000331581.6_Missense_Mutation_p.D70V	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CACAGAGTCGTCACTCTTATT	0.443																																						uc001ppi.4																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(208-210)gAc>gTc		Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.							106	96	99					11																	115111056		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115111056T>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.209A>T	11.37:g.115111056T>A	ENSP00000395359:p.Asp70Val					CADM1_uc001ppf.4_Missense_Mutation_p.D70V|CADM1_uc001ppk.4_Missense_Mutation_p.D70V|CADM1_uc001ppj.4_Missense_Mutation_p.D70V|CADM1_uc001ppl.3_Missense_Mutation_p.D70V	p.D70V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	1	338	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	70			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.209A>T	CCDS8373.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	25.7|25.7|25.7	4.664501|4.664501|4.664501	0.88251|0.88251|0.88251	.|.|.	.|.|.	ENSG00000182985|ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249|ENST00000545380	D;D;D;D;D;D|.|.	0.83419|.|.	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72|.|.	5.97|5.97|5.97	5.97|5.97|5.97	0.96955|0.96955|0.96955	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.74680|0.74680|.	0.3748|0.3748|.	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.998;0.999|.|.	D;D;D;D;D|.|.	0.91635|.|.	0.998;0.999;0.999;0.993;0.998|.|.	T|T|.	0.74225|0.74225|.	-0.3734|-0.3734|.	10|5|.	0.41790|.|.	T|.|.	0.15|.|.	.|.|.	16.4461|16.4461|16.4461	0.83932|0.83932|0.83932	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	70;70;71;70;70|.|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.|.	.;.;.;CADM1_HUMAN;.|.|.	V|S|C	70;70;70;70;29;70;37|54|68	ENSP00000439176:D70V;ENSP00000395359:D70V;ENSP00000439817:D70V;ENSP00000440322:D70V;ENSP00000329797:D70V;ENSP00000439696:D37V|.|.	ENSP00000329797:D70V|.|.	D|T|X	-|-|-	2|1|3	0|0|0	CADM1|CADM1|CADM1	114616266|114616266|114616266	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.665000|7.665000|7.665000	0.83852|0.83852|0.83852	2.285000|2.285000|2.285000	0.76669|0.76669|0.76669	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAC|ACG|TGA		0.443	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		A	115111056	T	A	115111056	3	1	266	1	0	0	0	0	1	0	0	0	2566	1667	58	5	1155	5	CADM1	11	115111056	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	44929301	115111056	19895460	42	19008											
CHEK1	1111	broad.mit.edu	37	chr11	125503132	125503132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcgtttgttgaacaagAtgtgtggtactttaccatat	10	15	11	5	1	0	3	0	2	0	1	0	3	0	3	1	1	4	3	1	1	5	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:125503132A>T	ENST00000534070.1	+	6	754	c.499A>T	c.(499-501)Atg>Ttg	p.M167L	CHEK1_ENST00000428830.2_Missense_Mutation_p.M167L|CHEK1_ENST00000427383.2_Missense_Mutation_p.M183L|CHEK1_ENST00000524737.1_Missense_Mutation_p.M167L|CHEK1_ENST00000544373.1_Missense_Mutation_p.M167L|CHEK1_ENST00000278916.3_Missense_Mutation_p.M167L|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Missense_Mutation_p.M167L	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	167	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTTGAACAAGATGTGTGGTAC	0.378								Other conserved DNA damage response genes																														uc009zbo.3																			0		p.K166N(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(499-501)Atg>Ttg	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.							124	122	123					11																	125503132		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125503132A>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.499A>T	11.37:g.125503132A>T	ENSP00000435371:p.Met167Leu					CHEK1_uc010sbi.2_Missense_Mutation_p.M167L|CHEK1_uc010sbh.2_Missense_Mutation_p.M183L|CHEK1_uc001qcf.4_Missense_Mutation_p.M167L|CHEK1_uc009zbp.3_Missense_Mutation_p.M167L|CHEK1_uc001qcg.4_Missense_Mutation_p.M167L	p.M167L	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	5	1396	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	167			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.499A>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840331	0.51057	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050336	0.85682	D	0.000000	T	0.11707	0.0285	N	0.04686	-0.185	0.37949	D	0.932606	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.19778	-1.0295	10	0.22109	T	0.4	-26.5035	15.5643	0.76277	1.0:0.0:0.0:0.0	.	167;183;167;167	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	L	167;183;167;167;167;167;167;167;88;167	ENSP00000388648:M167L;ENSP00000391090:M183L;ENSP00000412504:M167L;ENSP00000442317:M167L;ENSP00000431525:M167L;ENSP00000431815:M167L;ENSP00000435371:M167L;ENSP00000432890:M167L;ENSP00000434646:M88L;ENSP00000278916:M167L	ENSP00000278916:M167L	M	+	1	0	CHEK1	125008342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.244000	0.58728	2.157000	0.67596	0.477000	0.44152	ATG		0.378	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		T	125503132	A	T	125503132	3	4	266	1	0	0	0	0	1	0	0	0	3334	333	12	5	517	5	CHEK1	11	125503132	Missense_Mutation	SNP	A	TCGA-76-6191-01A-12D-1696-08	10392076	125503132	9503384	43	19009											
PLCZ1	89869	broad.mit.edu	37	chr12	18836249	18836249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaaaacagaggaataCgacgataacctgcaaaagga	18	6	10	7	2	1	1	0	0	1	1	1	6	1	4	1	3	4	1	1	3	7	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:18836249C>T	ENST00000538330.1	-	11	1478	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.R65H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R391H|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R582H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R584H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R389H					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAGGAATACGACGATAACC	0.378																																						uc021qvx.1																			0		p.R584C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1750-1752)cGt>cAt		Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.							111	101	105					12																	18836249		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18836249C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1097G>A	12.37:g.18836249C>T	ENSP00000445880:p.Arg366His					PLCZ1_uc001rdv.4_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_Non-coding_Transcript	p.R584H	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			14	1942	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		584						Missense_Mutation	SNP	ENST00000538330.1	37	c.1751G>A		.	.	.	.	.	.	.	.	.	.	C	0.049	-1.254820	0.01457	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64	5.34	2.43	0.29744	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.308722	0.33515	N	0.004826	T	0.02571	0.0078	N	0.00611	-1.325	0.32474	N	0.542399	B;B	0.16603	0.006;0.018	B;B	0.08055	0.002;0.003	T	0.37596	-0.9699	10	0.02654	T	1	.	5.0721	0.14611	0.0:0.6269:0.1849:0.1882	.	584;366	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	H	65;366;584;582;389;391	ENSP00000438826:R65H;ENSP00000445880:R366H;ENSP00000266505:R584H;ENSP00000402358:R582H;ENSP00000400504:R389H;ENSP00000445026:R391H	ENSP00000266505:R584H	R	-	2	0	PLCZ1	18727516	0.074000	0.21230	0.948000	0.38648	0.367000	0.29736	0.376000	0.20535	0.828000	0.34709	-0.140000	0.14226	CGT		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		T	18836249	C	T	18836249	3	4	266	1	0	0	0	0	1	0	0	0	12044	536	19	1	79	1	PLCZ1	12	18836249	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		18836249	115015646	44	19010											
OR6C75	390323	broad.mit.edu	37	chr12	55758922	55758922	+	Frame_Shift_Del	DEL	T	T	-																															attccacagcagtaacagacTttattcttcttggattgaca																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:55758922delT	ENST00000343399.3	+	1	28	c.28delT	c.(28-30)tttfs	p.F10fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGTAACAGACTTTATTCTTCT	0.353																																						uc010spk.2																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(28-30)tttfs		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							114	114	114					12																	55758922		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55758922delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.28delT	12.37:g.55758922delT	ENSP00000368987:p.Phe10fs						p.F10fs	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			0	28	+			10						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.28delT	CCDS31820.1																																																																																				0.353	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			-	55758922	T	-	55758922	7	5	266	1	0	1	0	1	0	0	0	0	11199	1609	56	0	30	0	OR6C75	12	55758922	Frame_Shift_Del	DEL	T	TCGA-76-6191-01A-12D-1696-08	36922673	55758922	78092973	45	19011											
EP400	57634	broad.mit.edu	37	chr12	132491424	132491424	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctagcttgtaacgaaggTaagagtttgctagttttttt	10	16	9	6	1	0	1	0	0	0	1	0	2	0	1	1	1	3	6	1	1	5	9			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:132491424T>C	ENST00000333577.4	+	16	3521		c.e16+2		EP400_ENST00000330386.6_Splice_Site|EP400_ENST00000389561.2_Splice_Site|EP400_ENST00000332482.4_Splice_Site|EP400_ENST00000389562.2_Splice_Site			Q96L91	EP400_HUMAN	E1A binding protein p400						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTAACGAAGGTAAGAGTTTGC	0.413																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.e15+2		Homo sapiens E1A binding protein p400 (EP400), mRNA.							97	99	98					12																	132491424		2203	4300	6503	SO:0001630	splice_region_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132491424T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3412+2T>C	12.37:g.132491424T>C						EP400_uc021rgq.1_Splice_Site_p.G1101_splice|EP400_uc001ujm.3_Splice_Site_p.G1102_splice	p.G1102_splice	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	15	3456	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1138			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Splice_Site	SNP	ENST00000333577.4	37	c.3304_splice		.	.	.	.	.	.	.	.	.	.	T	17.23	3.337534	0.60963	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5812	0.76445	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP400	131057377	1.000000	0.71417	0.984000	0.44739	0.488000	0.33401	8.010000	0.88615	2.072000	0.62099	0.383000	0.25322	.		0.413	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	Intron	C	132491424	T	C	132491424	5	2	266	1	0	0	0	0	0	0	1	0	5149	1652	57	4	3357	4	EP400	12	132491424	Splice_Site	SNP	T	TCGA-76-6191-01A-12D-1696-08	76732502	132491424	1360471	46	19012											
EFHA1	221154	broad.mit.edu	37	chr13	22067477	22067477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtattcttgtatacTctgatgttgtggtacctgtt	6	19	8	8	0	2	1	0	1	2	0	3	1	3	1	2	1	2	5	2	1	4	9			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:22067477T>G	ENST00000382374.4	-	12	1281	c.1216A>C	c.(1216-1218)Agt>Cgt	p.S406R	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	406					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TCTTGTATACTCTGATGTTGT	0.318																																						uc001uof.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13						c.(1216-1218)Agt>Cgt		Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.							157	149	152					13																	22067477		2202	4297	6499	SO:0001583	missense	221154						calcium ion binding	g.chr13:22067477T>G	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1216A>C	13.37:g.22067477T>G	ENSP00000371811:p.Ser406Arg					EFHA1_uc010tct.2_Missense_Mutation_p.S196R	p.S406R	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	11	1284	-		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	406					Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	37	c.1216A>C	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663534	0.29515	.	.	ENSG00000165487	ENST00000382374	T	0.43294	0.95	5.92	2.32	0.28847	.	0.172271	0.64402	D	0.000004	T	0.23926	0.0579	N	0.19112	0.55	0.25517	N	0.987407	P	0.42409	0.779	B	0.39299	0.296	T	0.08046	-1.0741	10	0.45353	T	0.12	-8.9776	6.1937	0.20538	0.0:0.3921:0.0:0.6079	.	406	Q8IYU8	EFHA1_HUMAN	R	406	ENSP00000371811:S406R	ENSP00000371811:S406R	S	-	1	0	EFHA1	20965477	0.701000	0.27806	0.005000	0.12908	0.056000	0.15407	2.227000	0.42972	1.063000	0.40649	0.533000	0.62120	AGT		0.318	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		G	22067477	T	G	22067477	3	3	266	1	0	0	0	0	1	0	0	0	4943	1551	54	5	92	5	EFHA1	13	22067477	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		22067477	93102401	47	19013											
MCF2L	23263	broad.mit.edu	37	chr13	113729315	113729315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtggccgtccacaggtgGccgtggagagggcccgggcc	4	5	20	12	3	0	1	0	0	0	1	1	2	1	1	5	7	0	0	5	7	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:113729315G>T	ENST00000375608.3	+	12	1268	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S	MCF2L_ENST00000434480.2_Missense_Mutation_p.A380S|MCF2L_ENST00000421756.1_Missense_Mutation_p.A378S|MCF2L_ENST00000375604.2_Missense_Mutation_p.A431S|MCF2L_ENST00000397030.1_Missense_Mutation_p.A407S|MCF2L_ENST00000442652.2_Missense_Mutation_p.A404S|MCF2L_ENST00000535094.2_Missense_Mutation_p.A374S|MCF2L_ENST00000375601.3_Missense_Mutation_p.A378S|MCF2L_ENST00000375597.4_Missense_Mutation_p.A372S|MCF2L_ENST00000423482.2_Missense_Mutation_p.A372S			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	404					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCACAGGTGGCCGTGGAGAG	0.647																																						uc001vsu.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1291-1293)Gcc>Tcc		Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.							54	63	60					13																	113729315		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729315G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1210G>T	13.37:g.113729315G>T	ENSP00000364758:p.Ala404Ser					MCF2L_uc001vsq.3_Missense_Mutation_p.A431S|MCF2L_uc010tjr.2_Missense_Mutation_p.A374S|MCF2L_uc001vsr.3_Missense_Mutation_p.A378S|MCF2L_uc001vss.4_Missense_Mutation_p.A372S|MCF2L_uc010tjs.2_Missense_Mutation_p.A372S|MCF2L_uc001vst.1_Missense_Mutation_p.A336S	p.A431S	NM_024979	NP_079255	O15068	MCF2L_HUMAN			10	1291	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	404					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.1291G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.037|1.037	-0.680143|-0.680143	0.03353|0.03353	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.21|4.21	-1.82|-1.82	0.07857|0.07857	.|.	0.743129|.	0.12884|.	N|.	0.431162|.	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.16166|.	0.001;0.0;0.007;0.016;0.0;0.005|.	B;B;B;B;B;B|.	0.18871|.	0.008;0.008;0.013;0.023;0.012;0.023|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.07482|.	T|.	0.82|.	.|.	8.097|8.097	0.30835|0.30835	0.0:0.2035:0.4003:0.3962|0.0:0.2035:0.4003:0.3962	.|.	372;374;431;336;372;404|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	S|V	404;404;431;407;374;378;378;380;372;372;215|34	ENSP00000364758:A404S;ENSP00000401422:A404S;ENSP00000364754:A431S;ENSP00000380225:A407S;ENSP00000440374:A374S;ENSP00000397285:A378S;ENSP00000364751:A378S;ENSP00000407722:A380S;ENSP00000405639:A372S;ENSP00000364747:A372S|.	ENSP00000364747:A372S|.	A|G	+|+	1|2	0|0	MCF2L|MCF2L	112777316|112777316	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.172000|0.172000	0.16704|0.16704	-1.100000|-1.100000	0.03030|0.03030	-1.367000|-1.367000	0.01198|0.01198	GCC|GGC		0.647	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			T	113729315	G	T	113729315	3	4	266	1	0	0	0	0	1	0	0	0	9379	1203	42	5	1428	5	MCF2L	13	113729315	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	91661838	113729315	1440563	48	19014											
KCNK10	54207	broad.mit.edu	37	chr14	88651963	88651963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgttctccaactcagcGtgctgctggatacagtccgt	7	12	9	13	3	2	0	1	0	1	0	5	1	4	1	3	1	5	3	3	1	2	3	rs75132782	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr14:88651963G>A	ENST00000340700.5	-	7	1984	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	KCNK10_ENST00000312350.5_Silent_p.H516H|KCNK10_ENST00000319231.5_Silent_p.H516H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	511					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCAACTCAGCGTGCTGCTGGA	0.498													G|||	15	0.00299521	0	0	5008	,	,		19646	0.0129		0.002	False		,,,				2504	0					uc001xwm.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1546-1548)caC>caT		Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.		G	,,	0,4406		0,0,2203	164	155	158		1533,1548,1548	-10.3	0	14	dbSNP_132	158	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	511/539,516/544,516/544	88651963	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88651963G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1533C>T	14.37:g.88651963G>A						KCNK10_uc001xwn.3_Silent_p.H516H|KCNK10_uc001xwo.3_Silent_p.H511H	p.H516H	NM_138318	NP_612191	P57789	KCNKA_HUMAN			6	1670	-			511					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.1548C>T	CCDS9880.1																																																																																				0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		A	88651963	G	A	88651963	2	1	266	1	0	0	0	0	0	0	0	1	8059	1136	40	1		1	KCNK10	14	88651963	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08		88651963	18697577	49	19015											
FMN1	342184	broad.mit.edu	37	chr15	33359812	33359812	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattttctcatcatttcCgaggtcaggtgaaacccgag	10	12	9	10	2	3	1	3	1	1	0	5	3	4	1	2	2	2	1	2	2	2	3	rs373274569		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:33359812C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.G92R|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.G92R|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCATTTCCGAGGTCAGGT	0.493																																						uc001zhf.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(274-276)Gga>Aga		Homo sapiens formin 1 (FMN1), mRNA.		C	ARG/GLY	0,3834		0,0,1917	77	76	76		274	0.1	0	15		76	1,8293		0,1,4146	no	missense	FMN1	NM_001103184.2	125	0,1,6063	TT,TC,CC		0.0121,0.0,0.0082	benign	92/1197	33359812	1,12127	1917	4147	6064	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359812C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2537G>A	15.37:g.33359812C>T						FMN1_uc001zhg.2_Missense_Mutation_p.G92R	p.G92R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	0	274	-		all_lung(180;1.14e-07)	0			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	C	3.683	-0.065054	0.07273	0.0	1.21E-4	ENSG00000248905	ENST00000334528	T	0.37235	1.21	5.22	0.0865	0.14446	.	.	.	.	.	T	0.24198	0.0586	.	.	.	.	.	.	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.19484	-1.0304	7	0.52906	T	0.07	.	6.1096	0.20094	0.0:0.3651:0.3274:0.3075	.	92;92	Q68DA7-3;Q68DA7-5	.;.	R	92	ENSP00000333950:G92R	ENSP00000333950:G92R	G	-	1	0	FMN1	31147104	0.000000	0.05858	0.003000	0.11579	0.279000	0.26890	-0.386000	0.07370	0.099000	0.17552	-0.137000	0.14449	GGA		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33359812	C	T	33359812	1	4	266	0	1	0	0	0	0	0	0	0	5949	661	23	2		2	FMN1	15	33359812	Intron	SNP	C	TCGA-76-6191-01A-12D-1696-08		33359812	69171580	50	19016											
TGM5	9333	broad.mit.edu	37	chr15	43544994	43544994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagacccagcattgcccGtagcgcacgggctggcagcc	9	4	13	15	3	0	1	0	0	0	1	0	1	0	1	3	2	4	6	3	2	2	2	rs138771869	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:43544994G>A	ENST00000220420.5	-	6	832	c.825C>T	c.(823-825)taC>taT	p.Y275Y	TGM5_ENST00000349114.4_Silent_p.Y193Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	275					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCATTGCCCGTAGCGCACGG	0.587													G|||	4	0.000798722	0	0	5008	,	,		18050	0.002		0	False		,,,				2504	0.002					uc001zrd.2																			0		p.R274C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(823-825)taC>taT		Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	L-Glutamine(DB00130)	G	,	0,4404		0,0,2202	76	73	74		579,825	-4.3	0.9	15	dbSNP_134	74	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous	TGM5	NM_004245.3,NM_201631.3	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	193/639,275/721	43544994	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544994G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.825C>T	15.37:g.43544994G>A						TGM5_uc001zre.2_Silent_p.Y193Y	p.Y275Y	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	5	833	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	275					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.825C>T	CCDS32212.1																																																																																				0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		A	43544994	G	A	43544994	2	1	266	1	0	0	0	0	0	0	0	1	15830	1140	40	1		1	TGM5	15	43544994	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	10185182	43544994	58986398	51	19017											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499582	59499582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatcacagcaggtgcacGccaagaaaagggagaaacgc	16	4	12	9	2	1	2	1	0	0	2	1	4	1	2	1	2	3	2	1	2	5	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:59499582G>T	ENST00000307144.4	+	1	541	c.443G>T	c.(442-444)cGc>cTc	p.R148L	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	148					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GCAGGTGCACGCCAAGAAAAG	0.438																																						uc002agb.3																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(442-444)cGc>cTc		Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	NADH(DB00157)						116	115	116					15																	59499582		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499582G>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.443G>T	15.37:g.59499582G>T	ENSP00000302393:p.Arg148Leu					MYO1E_uc002aga.3_Intron	p.R148L	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			0	541	+			148					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.443G>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432203	0.62844	.	.	ENSG00000171989	ENST00000307144	D	0.88664	-2.41	1.47	0.433	0.16534	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	D	0.85687	0.5754	M	0.81614	2.55	0.58432	D	0.999995	P	0.37548	0.599	B	0.34931	0.192	T	0.79928	-0.1596	10	0.87932	D	0	.	5.8855	0.18878	0.1977:0.0:0.8023:0.0	.	148	Q9BYZ2	LDH6B_HUMAN	L	148	ENSP00000302393:R148L	ENSP00000302393:R148L	R	+	2	0	LDHAL6B	57286874	1.000000	0.71417	0.262000	0.24481	0.585000	0.36419	6.045000	0.71020	-0.067000	0.12976	0.305000	0.20034	CGC		0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		T	59499582	G	T	59499582	3	4	266	1	0	0	0	0	1	0	0	0	8700	1087	38	5	445	5	LDHAL6B	15	59499582	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	15954588	59499582	43031810	52	19018											
ZNF710	374655	broad.mit.edu	37	chr15	90610585	90610585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctaccagctggcctgcaaCgggagggccttggaggagcc	7	6	16	12	1	1	0	0	0	1	0	1	3	1	3	4	5	5	2	4	5	2	2	rs372462461		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:90610585C>T	ENST00000268154.4	+	2	467	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGCCTGCAACGGGAGGGCCT	0.711													C|||	1	0.000199681	0	0	5008	,	,		14776	0		0	False		,,,				2504	0.001					uc002bov.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(214-216)aaC>aaT		Homo sapiens zinc finger protein 710 (ZNF710), mRNA.		C		0,4376		0,0,2188	19	22	21		216	-0.5	1	15		21	2,8576		0,2,4287	no	coding-synonymous	ZNF710	NM_198526.2		0,2,6475	TT,TC,CC		0.0233,0.0,0.0154		72/665	90610585	2,12952	2188	4289	6477	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610585C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.216C>T	15.37:g.90610585C>T							p.N72N	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		1	339	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		72					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.216C>T	CCDS10358.1																																																																																				0.711	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		T	90610585	C	T	90610585	2	4	266	1	0	0	0	0	0	0	0	1	18112	535	19	1		1	ZNF710	15	90610585	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	31111003	90610585	11920807	53	19019											
C16orf59	80178	broad.mit.edu	37	chr16	2511144	2511144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcccgaacccccaggcCtggggcgggcctcagggacc	6	2	17	16	2	1	0	1	0	0	0	1	3	1	2	6	6	2	0	6	6	1	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:2511144C>G	ENST00000361837.4	+	4	589	c.524C>G	c.(523-525)cCt>cGt	p.P175R	C16orf59_ENST00000483320.1_Missense_Mutation_p.P8R|C16orf59_ENST00000563531.1_Missense_Mutation_p.P175R|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000569496.1_Missense_Mutation_p.P175R	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	175										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ACCCCCAGGCCTGGGGCGGGC	0.687																																						uc002cqh.3																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(523-525)cCt>cGt		Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.							12	15	14					16																	2511144		1880	4101	5981	SO:0001583	missense	80178							g.chr16:2511144C>G	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.524C>G	16.37:g.2511144C>G	ENSP00000355022:p.Pro175Arg					C16orf59_uc002cqg.2_Missense_Mutation_p.P8R|C16orf59_uc002cqi.3_Missense_Mutation_p.P8R|C16orf59_uc010uwb.2_Missense_Mutation_p.P8R	p.P175R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			3	555	+		Ovarian(90;0.17)	175					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.524C>G	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649370	0.29336	.	.	ENSG00000162062	ENST00000361837	T	0.41758	0.99	4.02	-0.776	0.10984	.	0.677040	0.12972	N	0.424091	T	0.38026	0.1025	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;P	0.48840	0.592;0.592;0.592;0.592	T	0.23868	-1.0176	10	0.44086	T	0.13	0.2881	0.8745	0.01221	0.1773:0.365:0.2424:0.2152	.	8;175;8;8	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	R	175	ENSP00000355022:P175R	ENSP00000355022:P175R	P	+	2	0	C16orf59	2451145	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.135000	0.10420	-0.079000	0.12707	0.655000	0.94253	CCT		0.687	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		G	2511144	C	G	2511144	3	3	266	1	0	0	0	0	1	0	0	0	1823	681	24	5	538	5	C16orf59	16	2511144	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		2511144	87843609	54	19020											
GRIN2A	2903	broad.mit.edu	37	chr16	9858638	9858638	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttggatgaagtcagcAgctcttttgggtgagtccat	7	14	11	9	0	3	2	1	2	2	0	4	3	4	3	2	2	2	2	2	2	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:9858638A>T	ENST00000396573.2	-	14	3072	c.2763T>A	c.(2761-2763)gcT>gcA	p.A921A	GRIN2A_ENST00000396575.2_Silent_p.A921A|GRIN2A_ENST00000404927.2_Silent_p.A921A|GRIN2A_ENST00000330684.3_Silent_p.A921A|GRIN2A_ENST00000535259.1_Silent_p.A764A|GRIN2A_ENST00000562109.1_Silent_p.A921A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	921					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAAGTCAGCAGCTCTTTTGG	0.468																																						uc010uym.2																			0		p.R920K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2761-2763)gcT>gcA		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						222	194	204					16																	9858638		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858638A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2763T>A	16.37:g.9858638A>T						GRIN2A_uc002czo.4_Silent_p.A921A|GRIN2A_uc010uyn.2_Silent_p.A764A|GRIN2A_uc002czr.4_Silent_p.A921A	p.A921A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	3073	-			921					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.2763T>A	CCDS10539.1																																																																																				0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9858638	A	T	9858638	2	4	266	1	0	0	0	0	0	0	0	1	6779	175	7	5		5	GRIN2A	16	9858638	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08	7347494	9858638	80496115	55	19021											
LRRC48	83450	broad.mit.edu	37	chr17	17910458	17910458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcctaacgacctgcgCgcggtaggcggggcgggctg	5	5	18	13	6	0	0	0	0	0	0	0	2	0	0	3	5	3	2	3	5	2	2	rs386795956		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:17910458C>T	ENST00000399187.1	+	12	1541	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	LRRC48_ENST00000399182.1_Silent_p.R441R|LRRC48_ENST00000313838.8_Silent_p.R441R|LRRC48_ENST00000411504.2_Silent_p.R441R|LRRC48_ENST00000584166.1_Silent_p.R441R	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	441						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACGACCTGCGCGCGGTAGGCG	0.617																																						uc021trj.1																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(1321-1323)cgC>cgT		Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	83450					cytoplasm		g.chr17:17910458C>T	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1323C>T	17.37:g.17910458C>T						LRRC48_uc010vxe.2_Silent_p.R441R|LRRC48_uc021tri.1_Silent_p.R441R|LRRC48_uc021trk.1_Silent_p.R441R	p.R441R	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN			12	1702	+	all_neural(463;0.228)		441					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	ENST00000399187.1	37	c.1323C>T	CCDS45622.1																																																																																				0.617	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		T	17910458	C	T	17910458	2	4	266	1	0	0	0	0	0	0	0	1	9005	755	27	1		1	LRRC48	17	17910458	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08		17910458	63284752	56	19022											
CD79B	974	broad.mit.edu	37	chr17	62007651	62007651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccagctcacattgccGgaggcgctgttcatgtagca	9	8	12	12	2	2	1	2	0	0	1	2	2	2	2	2	2	4	5	2	2	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL																																	uc002jdp.1				Dom	yes		17	17q23	974	"Mis, O"	"CD79b molecule, immunoglobulin-associated beta"			L			DLBCL		1	Substitution - coding silent(1)	p.S71S(2)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(214-216)tcC>tcT		Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.							96	83	88					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	974				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A						CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	p.S72S	NM_001039933	NP_001035022	P40259	CD79B_HUMAN			2	299	-			71			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.216C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			A	62007651	G	A	62007651	2	1	266	1	0	0	0	0	0	0	0	1	3037	1103	39	2		2	CD79B	17	62007651	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	44097193	62007651	19187559	57	19023											
CDH19	28513	broad.mit.edu	37	chr18	64211976	64211978	+	In_Frame_Del	DEL	CTT	CTT	-																															cttttttaatataactattcCttcttgagtttcatgattag																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr18:64211976_64211978delCTT	ENST00000540086.1	-	6	1184_1186	c.938_940delAAG	c.(937-942)gaagga>gga	p.E313del	CDH19_ENST00000262150.2_In_Frame_Del_p.E313del	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	421	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAACTATTCCTTCTTGAGTTTC	0.3																																						uc002lkc.1																			0		p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(937-942)gaagga>gga		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.																																				SO:0001651	inframe_deletion	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211976_64211978delCTT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.938_940delAAG	18.37:g.64211979_64211981delCTT	ENSP00000439593:p.Glu313del					CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.3_In_Frame_Del_p.E313del	p.E313del	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			5	1076_1078	-		Esophageal squamous(42;0.0132)	313			Cadherin 3.		O15098	In_Frame_Del	DEL	ENST00000540086.1	37	c.938_940delAAG	CCDS59325.1																																																																																				0.3	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		-	64211978	CTT	-	64211976	7	5	266	1	0	1	0	1	0	0	0	0	3104	690	24	0	1406	0	CDH19	18	64211976	In_Frame_Del	DEL	CTT	TCGA-76-6191-01A-12D-1696-08		64211976	13865272	58	19024											
THEG	51298	broad.mit.edu	37	chr19	362356	362356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggggctggccaccaccttCttggtgacatccagcacctc	6	8	11	16	1	1	1	0	1	1	0	3	1	2	1	5	4	1	2	5	4	0	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:362356C>T	ENST00000342640.4	-	8	1026	c.984G>A	c.(982-984)aaG>aaA	p.K328K	THEG_ENST00000346878.2_Silent_p.K304K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	328					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCACCTTCTTGGTGACAT	0.617																																						uc002lol.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(982-984)aaG>aaA		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							113	108	110					19																	362356		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362356C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.984G>A	19.37:g.362356C>T						THEG_uc002lom.3_Silent_p.K304K	p.K328K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1027	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	328					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.984G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305216	0.23736	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.85	2.78	0.32641	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52472	-0.8571	4	.	.	.	-13.5392	7.4192	0.27063	0.0:0.8752:0.0:0.1248	.	.	.	.	K	106	.	.	R	-	2	0	THEG	313356	0.994000	0.37717	0.997000	0.53966	0.428000	0.31595	0.868000	0.27982	1.982000	0.57802	0.505000	0.49811	AGA		0.617	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			T	362356	C	T	362356	2	4	266	1	0	0	0	0	0	0	0	1	15854	912	32	3		3	THEG	19	362356	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08		362356	58766627	59	19025											
COL5A3	50509	broad.mit.edu	37	chr19	10104318	10104318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccttctcaccaggcaGcccagggaggccatcgaagc	8	6	12	15	1	1	0	1	0	1	0	3	2	1	1	4	4	2	1	4	4	1	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:10104318G>T	ENST00000264828.3	-	18	1757	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	558	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACCAGGCAGCCCAGGGAGG	0.587																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1672-1674)Ctg>Atg		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							134	117	123					19																	10104318		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10104318G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1672C>A	19.37:g.10104318G>T	ENSP00000264828:p.Leu558Met						p.L558M	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		17	1758	-			558			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1672C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426959	0.43122	.	.	ENSG00000080573	ENST00000264828	D	0.93604	-3.25	5.57	1.14	0.20703	.	0.000000	0.64402	D	0.000015	D	0.93119	0.7809	L	0.37630	1.12	0.44366	D	0.99726	D	0.89917	1.0	D	0.87578	0.998	D	0.90512	0.4482	10	0.51188	T	0.08	.	8.5575	0.33489	0.3146:0.0:0.6854:0.0	.	558	P25940	CO5A3_HUMAN	M	558	ENSP00000264828:L558M	ENSP00000264828:L558M	L	-	1	2	COL5A3	9965318	0.915000	0.31059	0.990000	0.47175	0.698000	0.40448	1.009000	0.29886	0.324000	0.23333	0.563000	0.77884	CTG		0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10104318	G	T	10104318	3	4	266	1	0	0	0	0	1	0	0	0	3698	962	34	5	3765	5	COL5A3	19	10104318	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	9741962	10104318	49024665	60	19026											
RYR1	6261	broad.mit.edu	37	chr19	39001381	39001381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctaaagtgctgggcagcGgtggccacgcctctaacaag	9	6	14	12	3	1	0	0	0	1	0	1	0	1	0	2	4	3	3	2	4	4	2	rs548280516		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:39001381G>A	ENST00000359596.3	+	60	9082	c.9082G>A	c.(9082-9084)Ggt>Agt	p.G3028S	RYR1_ENST00000355481.4_Missense_Mutation_p.G3028S|RYR1_ENST00000360985.3_Missense_Mutation_p.G3028S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3028					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGGCAGCGGTGGCCACGC	0.572																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9082-9084)Ggt>Agt		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						127	126	126					19																	39001381		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39001381G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9082G>A	19.37:g.39001381G>A	ENSP00000352608:p.Gly3028Ser					RYR1_uc002oiu.3_Missense_Mutation_p.G3028S|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	p.G3028S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		59	9212	+	all_cancers(60;7.91e-06)		3028					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9082G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321299	0.60634	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.65732	-0.17;-0.17;-0.17	4.85	4.85	0.62838	.	0.000000	0.64402	U	0.000002	T	0.44414	0.1292	N	0.13327	0.33	0.47949	D	0.999557	P;P	0.51351	0.944;0.907	P;B	0.44359	0.447;0.261	T	0.32079	-0.9920	10	0.11794	T	0.64	.	12.5785	0.56378	0.0819:0.0:0.9181:0.0	.	3028;3028	P21817-2;P21817	.;RYR1_HUMAN	S	3028	ENSP00000352608:G3028S;ENSP00000347667:G3028S;ENSP00000354254:G3028S	ENSP00000347667:G3028S	G	+	1	0	RYR1	43693221	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.128000	0.50492	2.524000	0.85096	0.561000	0.74099	GGT		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39001381	G	A	39001381	3	1	266	1	0	0	0	0	1	0	0	0	13768	1116	39	2	9320	2	RYR1	19	39001381	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	28897063	39001381	20127602	61	19027											
PRX	57716	broad.mit.edu	37	chr19	40902416	40902416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttctgggaggtgcacatCgggcacggccatctcgggca	7	7	14	13	3	2	0	0	0	2	0	4	1	2	1	1	5	1	3	1	5	0	1	rs377037656		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:40902416C>T	ENST00000324001.7	-	7	2113	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	615	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGCACATCGGGCACGGCC	0.552																																						uc002onr.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1843-1845)Gat>Aat		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.		C	,ASN/ASP	0,4406		0,0,2203	99	112	108		,1843	4.5	0	19		108	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,615/1462	40902416	1,13005	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902416C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1843G>A	19.37:g.40902416C>T	ENSP00000326018:p.Asp615Asn					PRX_uc002onq.3_Missense_Mutation_p.D476N|PRX_uc002ons.3_3'UTR	p.D615N	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	2112	-			615			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1843G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640047	0.47153	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.03035	4.07	4.47	4.47	0.54385	.	.	.	.	.	T	0.03095	0.0091	N	0.22421	0.69	0.80722	D	1	P	0.47106	0.89	B	0.39419	0.299	T	0.55218	-0.8175	9	0.52906	T	0.07	-4.9204	10.1478	0.42774	0.0:0.9058:0.0:0.0942	.	615	Q9BXM0	PRAX_HUMAN	N	615	ENSP00000326018:D615N	ENSP00000326018:D615N	D	-	1	0	PRX	45594256	.	.	0.048000	0.18961	0.082000	0.17680	.	.	2.481000	0.83766	0.650000	0.86243	GAT		0.552	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40902416	C	T	40902416	3	4	266	1	0	0	0	0	1	0	0	0	12642	884	31	2	2546	2	PRX	19	40902416	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	1901035	40902416	18226567	62	19028											
MATN4	8785	broad.mit.edu	37	chr20	43926658	43926658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctccgaggcgatctcGcgcagctccgcctccaccgc	4	6	12	19	6	1	0	0	0	1	0	5	2	4	0	5	2	1	4	5	2	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:43926658G>A	ENST00000372754.1	-	8	1610	c.1602C>T	c.(1600-1602)cgC>cgT	p.R534R	MATN4_ENST00000372756.1_Silent_p.R493R|MATN4_ENST00000342716.4_Silent_p.R493R|MATN4_ENST00000360607.6_Silent_p.R452R|MATN4_ENST00000353917.5_Silent_p.R411R|MATN4_ENST00000372751.4_Silent_p.R344R|MATN4_ENST00000537548.1_Silent_p.R493R			O95460	MATN4_HUMAN	matrilin 4	534	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCGATCTCGCGCAGCTCCG	0.672																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1477-1479)cgC>cgT		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43926658G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1602C>T	20.37:g.43926658G>A						MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R	p.R493R	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1666	-		Myeloproliferative disorder(115;0.0122)	534			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1479C>T																																																																																					0.672	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			A	43926658	G	A	43926658	2	1	266	1	0	0	0	0	0	0	0	1	9336	1074	38	1		1	MATN4	20	43926658	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08		43926658	19098862	63	19029											
NCOA5	57727	broad.mit.edu	37	chr20	44693706	44693706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgttgactgtgcaggagCggtgaatctggtgttgctgg	6	13	17	5	1	1	3	0	3	1	0	1	4	1	4	0	4	3	4	0	4	1	2	rs150367556		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:44693706C>T	ENST00000290231.6	-	6	955	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTGCAGGAGCGGTGAATCTG	0.473																																						uc002xrd.3																			0		p.H263L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(790-792)cGc>cAc		Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	254	205	221		791	5.4	1	20	dbSNP_134	221	0,8600		0,0,4300	no	missense	NCOA5	NM_020967.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	264/580	44693706	1,13005	2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693706C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.791G>A	20.37:g.44693706C>T	ENSP00000290231:p.Arg264His					NCOA5_uc002xrc.3_Missense_Mutation_p.R152H|NCOA5_uc002xre.3_Missense_Mutation_p.R264H	p.R264H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			4	1319	-		Myeloproliferative disorder(115;0.0122)	264					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.791G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746603	0.69418	2.27E-4	0.0	ENSG00000124160	ENST00000290231	T	0.52754	0.65	5.38	5.38	0.77491	Anticodon-binding (2);	0.097898	0.64402	D	0.000001	T	0.64929	0.2643	L	0.53249	1.67	0.58432	D	0.999999	D	0.71674	0.998	D	0.74674	0.984	T	0.62077	-0.6930	10	0.45353	T	0.12	-7.8449	18.3063	0.90182	0.0:1.0:0.0:0.0	.	264	Q9HCD5	NCOA5_HUMAN	H	264	ENSP00000290231:R264H	ENSP00000290231:R264H	R	-	2	0	NCOA5	44127113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.827000	0.62723	2.804000	0.96469	0.462000	0.41574	CGC		0.473	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		T	44693706	C	T	44693706	3	4	266	1	0	0	0	0	1	0	0	0	10232	768	27	1	960	1	NCOA5	20	44693706	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	767048	44693706	18331814	64	19030											
COL6A1	1291	broad.mit.edu	37	chr21	47410308	47410308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggagagaagggcaagcGtggcatcgacggggtggacg	11	3	20	7	4	0	1	0	0	0	1	1	5	0	3	0	6	1	2	0	6	2	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr21:47410308G>A	ENST00000361866.3	+	13	1088	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	325	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGGCAAGCGTGGCATCGAC	0.657																																						uc002zhu.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(973-975)cGt>cAt		Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	Palifermin(DB00039)						42	37	39					21																	47410308		2201	4298	6499	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410308G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.974G>A	21.37:g.47410308G>A	ENSP00000355180:p.Arg325His						p.R325H	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	12	1076	+	all_hematologic(128;0.24)		325			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.974G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632346	0.67015	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93366	-3.21	4.79	4.79	0.61399	.	0.064410	0.64402	D	0.000015	D	0.95906	0.8667	M	0.70108	2.13	0.51482	D	0.999924	D	0.89917	1.0	D	0.80764	0.994	D	0.94630	0.7821	10	0.24483	T	0.36	-9.5388	16.8324	0.85948	0.0:0.0:1.0:0.0	.	325	P12109	CO6A1_HUMAN	H	325	ENSP00000355180:R325H	ENSP00000355180:R325H	R	+	2	0	COL6A1	46234736	0.997000	0.39634	0.965000	0.40720	0.849000	0.48306	2.519000	0.45546	2.206000	0.71126	0.655000	0.94253	CGT		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		A	47410308	G	A	47410308	3	1	266	1	0	0	0	0	1	0	0	0	3699	1145	40	1	1024	1	COL6A1	21	47410308	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		47410308	719587	65	19031											
TCF20	6942	broad.mit.edu	37	chr22	42609517	42609517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaacagtcttctcattaaCctttgggttcccgtcggatg	7	13	8	13	2	2	0	1	0	2	0	5	1	3	1	3	2	2	1	3	2	2	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr22:42609517C>A	ENST00000359486.3	-	1	1931	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	TCF20_ENST00000335626.4_Missense_Mutation_p.V599F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCATTAACCTTTGGGTTC	0.542																																						uc003bcj.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1795-1797)Gtt>Ttt		Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.							83	79	80					22																	42609517		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609517C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1795G>T	22.37:g.42609517C>A	ENSP00000352463:p.Val599Phe					TCF20_uc003bck.1_Missense_Mutation_p.V599F	p.V599F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			0	1929	-			599					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1795G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680096	0.68042	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.65549	-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.70937	0.3281	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.70160	-0.4948	10	0.48119	T	0.1	-13.9848	20.8794	0.99867	0.0:1.0:0.0:0.0	.	599;599	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	599	ENSP00000352463:V599F;ENSP00000335561:V599F	ENSP00000335561:V599F	V	-	1	0	TCF20	40939461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.745000	0.55119	2.941000	0.99782	0.655000	0.94253	GTT		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		A	42609517	C	A	42609517	3	1	266	1	0	0	0	0	1	0	0	0	15687	507	18	5	4125	5	TCF20	22	42609517	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		42609517	8695049	66	19032											
OCRL	4952	broad.mit.edu	37	chrX	128696660	128696660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatctggctgcacacgtgGaggactttgagagaaggaat	11	8	13	9	1	1	2	0	1	1	1	1	6	1	5	1	4	1	2	1	4	2	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:128696660G>A	ENST00000371113.4	+	12	1306	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	OCRL_ENST00000357121.5_Missense_Mutation_p.E381K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	381	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCACACGTGGAGGACTTTGA	0.438																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1141-1143)Gag>Aag		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							159	132	141					X																	128696660		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696660G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1141G>A	X.37:g.128696660G>A	ENSP00000360154:p.Glu381Lys					OCRL_uc004eur.3_Missense_Mutation_p.E381K	p.E381K	NM_000276	NP_000267	Q01968	OCRL_HUMAN			11	1306	+			381					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1141G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114165	0.94339	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.79749	-1.3;-1.3	5.69	5.69	0.88448	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.099726	0.64402	D	0.000002	D	0.89019	0.6596	M	0.73598	2.24	0.80722	D	1	P;D	0.59767	0.908;0.986	P;D	0.64506	0.527;0.926	D	0.90014	0.4123	10	0.72032	D	0.01	.	17.6451	0.88146	0.0:0.0:1.0:0.0	.	381;381	Q01968-2;Q01968	.;OCRL_HUMAN	K	381	ENSP00000360154:E381K;ENSP00000349635:E381K	ENSP00000349635:E381K	E	+	1	0	OCRL	128524341	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.471000	0.97696	2.384000	0.81235	0.513000	0.50165	GAG		0.438	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		A	128696660	G	A	128696660	3	1	266	1	0	0	0	0	1	0	0	0	10823	1175	41	3	1187	3	OCRL	23	128696660	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		128696660	26573900	67	19033											
MAMLD1	10046	broad.mit.edu	37	chrX	149639327	149639327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttctaagccagcaacaGcagcagcagcagcagcagca	15	4	9	13	0	2	0	0	0	2	0	2	0	2	0	1	0	10	8	1	0	3	2	rs374561693		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:149639327G>A	ENST00000370401.2	+	4	1792	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAMLD1_ENST00000426613.2_Silent_p.Q469Q|MAMLD1_ENST00000432680.2_Silent_p.Q469Q|MAMLD1_ENST00000262858.5_Silent_p.Q494Q|MAMLD1_ENST00000455522.2_5'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	494	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCcagcaacagcagcagcagc	0.532																																						uc011mxu.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1405-1407)caG>caA		Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.							42	41	41					X																	149639327		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639327G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1482G>A	X.37:g.149639327G>A						MAMLD1_uc011mxt.1_Silent_p.Q456Q|MAMLD1_uc004fee.2_Silent_p.Q494Q|MAMLD1_uc011mxv.2_Silent_p.Q469Q|MAMLD1_uc011mxw.2_Silent_p.Q421Q	p.Q469Q	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN			2	1717	+	Acute lymphoblastic leukemia(192;6.56e-05)		494					B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1407G>A	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		A	149639327	G	A	149639327	2	1	266	1	0	0	0	0	0	0	0	1	9208	962	34	3		3	MAMLD1	23	149639327	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	20942667	149639327	5631233	68	19034											
KLF17	128209	broad.mit.edu	37	chr1	44584644	44584644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccggtggcaggcggCgcaccaggctgcccaggtga	6	4	18	13	3	0	2	0	2	0	0	0	2	0	2	3	6	2	4	3	6	0	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:44584644C>T	ENST00000372299.3	+	1	123	c.65C>T	c.(64-66)gCg>gTg	p.A22V	KLF17_ENST00000476802.1_3'UTR|RN7SL479P_ENST00000472003.2_RNA	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	22					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGCGGCGCACCAGGCT	0.697																																						uc001clp.3																			0		p.A22A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(64-66)gCg>gTg		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							16	15	15					1																	44584644		2190	4297	6487	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44584644C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.65C>T	1.37:g.44584644C>T	ENSP00000361373:p.Ala22Val					KLF17_uc009vxf.1_Intron	p.A22V	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			0	123	+	Acute lymphoblastic leukemia(166;0.155)		22					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.65C>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995695	0.35226	.	.	ENSG00000171872	ENST00000372299	T	0.08282	3.11	3.68	-2.92	0.05615	.	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	P	0.45240	0.854	B	0.32624	0.149	T	0.33904	-0.9850	9	0.34782	T	0.22	.	0.1474	0.00089	0.3185:0.2518:0.1569:0.2727	.	22	Q5JT82	KLF17_HUMAN	V	22	ENSP00000361373:A22V	ENSP00000361373:A22V	A	+	2	0	KLF17	44357231	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.042000	0.01414	-0.591000	0.05859	0.655000	0.94253	GCG		0.697	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		T	44584644	C	T	44584644	3	4	267	1	0	0	0	0	1	0	0	0	8345	768	27	1	67	1	KLF17	1	44584644	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		44584644	204665977	1	19035											
CYP4A11	1579	broad.mit.edu	37	chr1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagggagcctcctgagacGcaggtggattccatttttgg	7	12	14	8	1	0	1	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:47395834G>A	ENST00000310638.4	-	12	1544	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C	CYP4A11_ENST00000371904.4_Missense_Mutation_p.R506C|CYP4A11_ENST00000462347.1_Missense_Mutation_p.R407C	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CTCCTGAGACGCAGGTGGATT	0.587																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1513-1515)Cgt>Tgt		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						91	77	82					1																	47395834		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395834G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1513C>T	1.37:g.47395834G>A	ENSP00000311095:p.Arg505Cys						p.R505C	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			11	1564	-			505		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1513C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	G	5.356	0.250906	0.10130	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70399	-0.48;-0.48	4.71	-1.24	0.09435	.	1.766020	0.02474	N	0.087836	T	0.70124	0.3188	M	0.82056	2.57	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.50162	-0.8860	10	0.54805	T	0.06	.	4.1033	0.10025	0.2876:0.0:0.3736:0.3388	.	505	Q02928	CP4AB_HUMAN	C	505;506	ENSP00000311095:R505C;ENSP00000360971:R506C	ENSP00000311095:R505C	R	-	1	0	CYP4A11	47168421	0.000000	0.05858	0.009000	0.14445	0.126000	0.20510	-1.751000	0.01821	-0.094000	0.12374	-0.150000	0.13652	CGT		0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		A	47395834	G	A	47395834	3	1	267	1	0	0	0	0	1	0	0	0	4183	1087	38	1	50	1	CYP4A11	1	47395834	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	2811190	47395834	201854787	2	19036											
ELTD1	64123	broad.mit.edu	37	chr1	79404873	79404873	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttaactgttctacttacTtttgttaaagttttattaat	10	23	4	4	0	1	0	0	0	1	0	1	0	1	0	0	0	3	4	0	0	7	11			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:79404873T>A	ENST00000370742.3	-	4	459	c.396A>T	c.(394-396)aaA>aaT	p.K132N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	132					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTACTTACTTTTGTTAAAG	0.254																																						uc001diq.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.e4+1		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							36	36	36					1																	79404873		1782	4022	5804	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79404873T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.396+1A>T	1.37:g.79404873T>A							p.K132_splice	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	552	-			132					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.396_splice	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.746861	0.49257	.	.	ENSG00000162618	ENST00000370742	T	0.10668	2.85	6.07	3.55	0.40652	Domain of unknown function DUF3497 (1);	0.478856	0.26193	N	0.025786	T	0.02193	0.0068	N	0.25647	0.755	0.32011	N	0.60212	B	0.22003	0.063	B	0.14578	0.011	T	0.46624	-0.9178	9	.	.	.	.	9.1613	0.37023	0.0:0.1551:0.0:0.8449	.	132	Q9HBW9	ELTD1_HUMAN	N	132	ENSP00000359778:K132N	.	K	-	3	2	ELTD1	79177461	0.896000	0.30565	1.000000	0.80357	0.942000	0.58702	0.463000	0.21972	0.444000	0.26612	-0.386000	0.06593	AAA		0.254	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	A	79404873	T	A	79404873	5	1	267	1	0	0	0	0	0	0	1	0	5084	1623	56	5	1724	5	ELTD1	1	79404873	Splice_Site	SNP	T	TCGA-76-6192-01A-11D-1696-08	32009039	79404873	169845748	3	19037											
BRDT	676	broad.mit.edu	37	chr1	92442915	92442915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactccataactactatgacGttgtcaaaaatccgatggat	14	11	7	9	2	1	1	1	1	0	0	3	4	3	2	2	1	2	1	2	1	5	4	rs142308966		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:92442915G>A	ENST00000362005.3	+	7	1352	c.934G>A	c.(934-936)Gtt>Att	p.V312I	BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.V266I|BRDT_ENST00000370389.2_Missense_Mutation_p.V239I|BRDT_ENST00000399546.2_Missense_Mutation_p.V312I|BRDT_ENST00000402388.1_Missense_Mutation_p.V312I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	312	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.V312I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTACTATGACGTTGTCAAAAA	0.323																																						uc001dol.4																			1	Substitution - Missense(1)	p.V312I(2)	large_intestine(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(934-936)Gtt>Att		Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.							68	70	69					1																	92442915		2203	4294	6497	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442915G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.934G>A	1.37:g.92442915G>A	ENSP00000354568:p.Val312Ile					BRDT_uc010osz.2_Missense_Mutation_p.V316I|BRDT_uc001dok.4_Missense_Mutation_p.V312I|BRDT_uc009wdf.3_Missense_Mutation_p.V239I|BRDT_uc010otb.2_Missense_Mutation_p.V266I|BRDT_uc010ota.2_Missense_Mutation_p.V266I|BRDT_uc001dom.4_Missense_Mutation_p.V312I	p.V312I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1352	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	312			Bromo 2.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.934G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	A	2.047	-0.418568	0.04766	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.88	-0.779	0.10973	Bromodomain (5);Bromodomain, conserved site (1);	0.641330	0.15262	N	0.271734	T	0.02230	0.0069	N	0.02765	-0.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45220	-0.9276	10	0.02654	T	1	-2.2149	13.4445	0.61134	0.4227:0.0:0.5773:0.0	.	266;266;316;312	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	312;239;312;312;266;312;312	ENSP00000354568:V312I;ENSP00000359416:V239I;ENSP00000387822:V312I;ENSP00000378038:V266I;ENSP00000404969:V312I;ENSP00000384051:V312I	ENSP00000354568:V312I	V	+	1	0	BRDT	92215503	0.920000	0.31207	0.015000	0.15790	0.920000	0.55202	1.123000	0.31308	-0.349000	0.08274	-0.972000	0.02603	GTT		0.323	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		A	92442915	G	A	92442915	3	1	267	1	0	0	0	0	1	0	0	0	1508	1145	40	1	952	1	BRDT	1	92442915	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	13038042	92442915	156807706	4	19038											
MNDA	4332	broad.mit.edu	37	chr1	158815528	158815528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtttcatgctacagtggCcagtaagactcaatatttcc	12	13	7	9	0	2	1	2	0	0	1	3	1	3	1	2	1	2	3	2	1	5	5			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:158815528C>A	ENST00000368141.4	+	5	983	c.722C>A	c.(721-723)gCc>gAc	p.A241D		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	241	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCTACAGTGGCCAGTAAGACT	0.403																																						uc001fsz.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(721-723)gCc>gAc		Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.							93	92	92					1																	158815528		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815528C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.722C>A	1.37:g.158815528C>A	ENSP00000357123:p.Ala241Asp						p.A241D	NM_002432	NP_002423	P41218	MNDA_HUMAN			4	922	+	all_hematologic(112;0.0378)		241			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.722C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628584	0.46944	.	.	ENSG00000163563	ENST00000368141	T	0.47869	0.83	4.24	-1.09	0.09904	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.882419	0.09391	N	0.808566	T	0.50973	0.1647	M	0.80616	2.505	0.21841	N	0.999517	D	0.89917	1.0	D	0.71414	0.973	T	0.42120	-0.9470	10	0.87932	D	0	-0.8462	7.6585	0.28389	0.0:0.5079:0.0:0.4921	.	241	P41218	MNDA_HUMAN	D	241	ENSP00000357123:A241D	ENSP00000357123:A241D	A	+	2	0	MNDA	157082152	0.000000	0.05858	0.035000	0.18076	0.142000	0.21351	-1.591000	0.02100	-0.326000	0.08564	-0.150000	0.13652	GCC		0.403	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		A	158815528	C	A	158815528	3	1	267	1	0	0	0	0	1	0	0	0	9676	739	26	5	736	5	MNDA	1	158815528	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	66372613	158815528	90435093	5	19039											
TOMM40L	84134	broad.mit.edu	37	chr1	161197734	161197734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcggggagatgactacAcagccactctgaccctagga	12	7	11	11	1	1	3	0	2	1	1	2	5	1	4	2	3	2	1	2	3	3	3	rs146096318|rs79389182		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:161197734A>C	ENST00000367988.3	+	6	708	c.439A>C	c.(439-441)Aca>Cca	p.T147P	MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.T147P|TOMM40L_ENST00000545897.1_Missense_Mutation_p.T113P	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	147					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGATGACTACACAGCCACTCT	0.522											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fzd.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(439-441)Aca>Cca		Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.							59	56	57					1																	161197734		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161197734A>C		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.439A>C	1.37:g.161197734A>C	ENSP00000356967:p.Thr147Pro		OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_uc010pkk.1_Non-coding_Transcript|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.3_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.T147P	p.T147P	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	668	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		147					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.439A>C	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049589	0.75846	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.49720	0.77;0.77;0.77	5.91	4.78	0.61160	.	0.099552	0.64402	D	0.000002	T	0.60869	0.2302	M	0.85197	2.74	0.48901	D	0.999728	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70454	-0.4867	9	0.72032	D	0.01	-22.4296	10.2048	0.43107	0.9222:0.0:0.0778:0.0	.	113;29;147	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	P	147;113;94;147	ENSP00000356967:T147P;ENSP00000443233:T113P;ENSP00000356966:T147P	ENSP00000356966:T147P	T	+	1	0	TOMM40L	159464358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.145000	0.94634	1.063000	0.40649	0.533000	0.62120	ACA		0.522	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		C	161197734	A	C	161197734	3	2	267	1	0	0	0	0	1	0	0	0	16356	159	6	5	457	5	TOMM40L	1	161197734	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	2382206	161197734	88052887	6	19040											
ASPM	259266	broad.mit.edu	37	chr1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcttgtaatcttgctcGaaaccatctctgtttaaaac	10	17	4	10	1	3	0	0	0	3	0	5	1	3	0	1	0	3	3	1	0	4	7	rs587783292		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197060162G>A	ENST00000367409.4	-	23	9710	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.R817*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1567*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3152					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCTTGCTCGAAACCATCTC	0.289																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9454-9456)Cga>Tga		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							68	69	69					1																	197060162		2202	4299	6501	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060162G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9454C>T	1.37:g.197060162G>A	ENSP00000356379:p.Arg3152*					ASPM_uc001gtv.3_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.4_Nonsense_Mutation_p.R1000*	p.R3152*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			22	9711	-			3152					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.9454C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	51	17.640436	0.99890	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	4.88	3.94	0.45596	.	0.168402	0.36740	N	0.002439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6061	0.28103	0.0766:0.0:0.6288:0.2946	.	.	.	.	X	3152;1567;817;1138	.	ENSP00000294732:R1567X	R	-	1	2	ASPM	195326785	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.552000	0.36244	1.141000	0.42275	0.313000	0.20887	CGA		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197060162	G	A	197060162	4	1	267	1	0	0	0	0	0	1	0	0	1056	1066	37	2	1003	2	ASPM	1	197060162	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	35862428	197060162	52190459	7	19041											
LHX9	56956	broad.mit.edu	37	chr1	197890610	197890610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctggtgtactgccgcgCccacttcgagaccctcttgc	5	9	10	17	3	1	1	0	0	1	1	2	2	1	1	4	1	4	1	4	1	1	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197890610C>T	ENST00000367387.4	+	3	979	c.554C>T	c.(553-555)gCc>gTc	p.A185V	LHX9_ENST00000561173.1_Missense_Mutation_p.A191V|LHX9_ENST00000337020.2_Missense_Mutation_p.A185V|LHX9_ENST00000367391.1_Missense_Mutation_p.A176V|LHX9_ENST00000367390.3_Missense_Mutation_p.A176V	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	185	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TACTGCCGCGCCCACTTCGAG	0.607																																						uc001guk.1																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(553-555)gCc>gTc		Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.							58	58	58					1																	197890610		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890610C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.554C>T	1.37:g.197890610C>T	ENSP00000356357:p.Ala185Val					LHX9_uc001gui.1_Missense_Mutation_p.A176V	p.A185V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			2	991	+			185			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.554C>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	9.664	1.145045	0.21288	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.65	4.74	0.60224	Zinc finger, LIM-type (4);	0.192810	0.47852	D	0.000205	T	0.78336	0.4267	L	0.27975	0.815	0.38181	D	0.939624	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.005	T	0.73685	-0.3905	10	0.25106	T	0.35	.	11.0643	0.47966	0.0:0.8595:0.0:0.1405	.	185;176;176	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	V	176;176;185;185	ENSP00000356361:A176V;ENSP00000356360:A176V;ENSP00000337969:A185V;ENSP00000356357:A185V	ENSP00000337969:A185V	A	+	2	0	LHX9	196157233	0.999000	0.42202	0.995000	0.50966	0.439000	0.31926	2.683000	0.46943	1.631000	0.50456	0.655000	0.94253	GCC		0.607	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		T	197890610	C	T	197890610	3	4	267	1	0	0	0	0	1	0	0	0	8777	739	26	3	596	3	LHX9	1	197890610	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	830448	197890610	51360011	8	19042											
PQLC3	130814	broad.mit.edu	37	chr2	11300636	11300636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttactatgggtatccgcCgctgacctacctggagtacc	7	11	11	12	2	0	1	0	1	0	0	1	2	1	2	5	2	3	4	5	2	5	5			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:11300636C>T	ENST00000295083.3	+	2	363	c.188C>T	c.(187-189)cCg>cTg	p.P63L	PQLC3_ENST00000402361.1_Missense_Mutation_p.P63L|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.P63L	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	63						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGGTATCCGCCGCTGACCTAC	0.617																																						uc002rbc.3																			0				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(187-189)cCg>cTg		Homo sapiens PQ loop repeat containing 3 (PQLC3), mRNA.							155	132	140					2																	11300636		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11300636C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 22"	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.188C>T	2.37:g.11300636C>T	ENSP00000295083:p.Pro63Leu					PQLC3_uc010yjk.2_Missense_Mutation_p.P63L	p.P63L	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	321	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		63					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.188C>T	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093449	0.08632	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.01	2.65	0.31530	.	0.154636	0.44688	N	0.000432	D	0.88194	0.6371	N	0.01048	-1.04	0.39359	D	0.965886	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.78823	-0.2052	10	0.23891	T	0.37	-10.8156	6.8502	0.24010	0.0:0.196:0.0:0.804	.	63;63	B4DWA4;Q8N755	.;PQLC3_HUMAN	L	86;63;63;63	ENSP00000410430:P86L;ENSP00000295083:P63L;ENSP00000406148:P63L;ENSP00000384129:P63L	ENSP00000295083:P63L	P	+	2	0	PQLC3	11218087	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	3.287000	0.51732	0.264000	0.21851	-0.367000	0.07326	CCG		0.617	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		T	11300636	C	T	11300636	3	4	267	1	0	0	0	0	1	0	0	0	12420	652	23	2	194	2	PQLC3	2	11300636	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		11300636	231898737	9	19043											
THSD7B	80731	broad.mit.edu	37	chr2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgcttgttccttacgctCgcggtgaagtcaagcctcgg	5	12	13	11	4	1	1	1	1	0	0	4	1	2	1	2	2	3	3	2	2	3	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:137814211C>T	ENST00000409968.1	+	3	539	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	THSD7B_ENST00000272643.3_Missense_Mutation_p.R121C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R90C|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	121	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(268-270)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							77	84	81					2																	137814211		2062	4203	6265	SO:0001583	missense	80731							g.chr2:137814211C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.361C>T	2.37:g.137814211C>T	ENSP00000387145:p.Arg121Cys					THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	p.R90C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	1	268	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	C	12.18	1.862074	0.32884	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.38;2.24;1.85	6.07	6.07	0.98685	.	0.972227	0.08512	N	0.934707	T	0.17323	0.0416	N	0.14661	0.345	0.23936	N	0.996414	B	0.33528	0.416	B	0.26614	0.071	T	0.15896	-1.0421	9	.	.	.	.	15.1216	0.72447	0.0:0.8591:0.1409:0.0	.	90	C9JKN6	.	C	121;121;90	ENSP00000387145:R121C;ENSP00000272643:R121C;ENSP00000413841:R90C	.	R	+	1	0	THSD7B	137530681	0.000000	0.05858	0.016000	0.15963	0.142000	0.21351	0.968000	0.29357	2.890000	0.99128	0.585000	0.79938	CGC		0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	137814211	C	T	137814211	3	4	267	1	0	0	0	0	1	0	0	0	15877	884	31	2	274	2	THSD7B	2	137814211	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	126513575	137814211	105385162	10	19044											
SCN7A	6332	broad.mit.edu	37	chr2	167262867	167262867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttgaaaaagacagagCatactgttgccaaaggtttc	15	9	9	8	0	0	3	0	1	0	2	1	3	0	3	1	1	4	4	1	1	5	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:167262867C>A	ENST00000409855.1	-	25	4398	c.4272G>T	c.(4270-4272)atG>atT	p.M1424I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1424					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAAGACAGAGCATACTGTTGC	0.348																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4270-4272)atG>atT		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							184	177	179					2																	167262867		1896	4154	6050	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262867C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4272G>T	2.37:g.167262867C>A	ENSP00000386796:p.Met1424Ile					SCN7A_uc010fpm.2_Non-coding_Transcript	p.M1424I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	4402	-			1424						Missense_Mutation	SNP	ENST00000409855.1	37	c.4272G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870400	0.33069	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98474	-4.95	5.14	5.14	0.70334	Ion transport (1);	0.072922	0.64402	D	0.000020	D	0.96470	0.8848	L	0.50333	1.59	0.44129	D	0.996918	B	0.19200	0.034	B	0.18871	0.023	D	0.93882	0.7172	10	0.31617	T	0.26	.	16.4754	0.84131	0.0:1.0:0.0:0.0	.	1424	Q01118	SCN7A_HUMAN	I	1424	ENSP00000386796:M1424I	ENSP00000259060:M1424I	M	-	3	0	SCN7A	166971113	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.479000	0.22228	2.835000	0.97688	0.591000	0.81541	ATG		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167262867	C	A	167262867	3	1	267	1	0	0	0	0	1	0	0	0	13923	710	25	5	780	5	SCN7A	2	167262867	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	29448656	167262867	75936506	11	19045											
PLEKHA3	65977	broad.mit.edu	37	chr2	179365815	179365815	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactctataaaagaaccagtAtctacacttcaccgactctc	14	10	3	14	1	4	1	1	0	3	1	5	2	4	1	2	0	2	1	2	0	6	5			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:179365815A>T	ENST00000234453.5	+	7	1089	c.687A>T	c.(685-687)gtA>gtT	p.V229V		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	229						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAGAACCAGTATCTACACTTC	0.378																																						uc002umn.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(685-687)gtA>gtT		Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.							95	102	99					2																	179365815		2203	4300	6503	SO:0001819	synonymous_variant	65977					cytoplasm|membrane		g.chr2:179365815A>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.687A>T	2.37:g.179365815A>T						MIR548N_uc021vsx.1_Intron	p.V229V	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		6	1085	+			229					Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	37	c.687A>T	CCDS33336.1																																																																																				0.378	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		T	179365815	A	T	179365815	2	4	267	1	0	0	0	0	0	0	0	1	12057	436	16	5		5	PLEKHA3	2	179365815	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	12102948	179365815	63833558	12	19046											
SPATS2L	26010	broad.mit.edu	37	chr2	201303921	201303921	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaacaacagagaggtcAgatggcctacagtggtcagc	13	6	13	9	0	2	2	2	0	0	2	2	4	2	3	1	4	4	0	1	4	3	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:201303921A>C	ENST00000358677.5	+	7	769	c.522A>C	c.(520-522)tcA>tcC	p.S174S	SPATS2L_ENST00000409385.1_Silent_p.S114S|SPATS2L_ENST00000409718.1_Silent_p.S174S|SPATS2L_ENST00000409988.3_Silent_p.S174S|SPATS2L_ENST00000409140.3_Silent_p.S174S|SPATS2L_ENST00000409755.3_Silent_p.S204S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409151.1_Silent_p.S182S|SPATS2L_ENST00000451764.2_Silent_p.S174S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	174						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAGAGGTCAGATGGCCTAC	0.448																																						uc010zhc.2																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(610-612)tcA>tcC		Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.							119	112	115					2																	201303921		1918	4105	6023	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201303921A>C	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.522A>C	2.37:g.201303921A>C						SPATS2L_uc002uvn.4_Silent_p.S174S|SPATS2L_uc010fst.3_Silent_p.S174S|SPATS2L_uc002uvo.4_Silent_p.S114S|SPATS2L_uc002uvp.4_Silent_p.S174S|SPATS2L_uc002uvq.4_Intron|SPATS2L_uc002uvr.4_Silent_p.S174S	p.S204S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			6	735	+			174					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.612A>C	CCDS46483.1																																																																																				0.448	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		C	201303921	A	C	201303921	2	2	267	1	0	0	0	0	0	0	0	1	15019	175	7	5		5	SPATS2L	2	201303921	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	21938106	201303921	41895452	13	19047											
UGT1A6	54578	broad.mit.edu	37	chr2	234602327	234602327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctattttattgtctgtTttcaaagtatgaagaactcg	11	18	6	6	1	3	2	1	1	2	1	4	2	3	2	0	0	1	2	0	0	7	8			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:234602327T>G	ENST00000305139.6	+	1	816	c.677T>G	c.(676-678)tTt>tGt	p.F226C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'Flank|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	226					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TATTGTCTGTTTTCAAAGTAT	0.398																																						uc002vuv.4																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(676-678)tTt>tGt		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						139	144	142					2																	234602327		2203	4300	6503	SO:0001583	missense	54578				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234602327T>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.677T>G	2.37:g.234602327T>G	ENSP00000303174:p.Phe226Cys					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.F226C	p.F226C	NM_001072	NP_001063	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	816	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	227					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.677T>G	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740636	0.30865	.	.	ENSG00000167165	ENST00000305139	T	0.06768	3.26	5.31	0.0127	0.14093	.	.	.	.	.	T	0.14830	0.0358	L	0.38175	1.15	0.09310	N	1	D;D	0.65815	0.995;0.971	D;D	0.64687	0.913;0.928	T	0.17198	-1.0377	9	0.54805	T	0.06	.	7.9464	0.29989	0.4214:0.106:0.0:0.4726	.	226;226	B8K289;P19224	.;UD16_HUMAN	C	226	ENSP00000303174:F226C	ENSP00000303174:F226C	F	+	2	0	UGT1A6	234267066	0.000000	0.05858	0.002000	0.10522	0.264000	0.26372	0.180000	0.16860	-0.133000	0.11537	-0.339000	0.08088	TTT		0.398	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		G	234602327	T	G	234602327	3	3	267	1	0	0	0	0	1	0	0	0	16946	1841	64	5	679	5	UGT1A6	2	234602327	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08	33298406	234602327	8597046	14	19048											
PER2	8864	broad.mit.edu	37	chr2	239157720	239157720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgccacgtcgatggctgCgggcaggccgcccgtctgca	5	7	14	15	5	1	0	0	0	1	0	2	1	1	0	3	3	4	3	3	3	1	1	rs566173372		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:239157720C>T	ENST00000254657.3	-	22	3880	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1201	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCGATGGCTGCGGGCAGGCCG	0.562													C|||	1	0.000199681	0	0	5008	,	,		13025	0		0	False		,,,				2504	0.001					uc002vyc.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3601-3603)Gca>Aca		Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.							110	122	118					2																	239157720		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239157720C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3601G>A	2.37:g.239157720C>T	ENSP00000254657:p.Ala1201Thr					PER2_uc010znv.1_Missense_Mutation_p.A1201T	p.A1201T	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	21	3838	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1201			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.3601G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266661	0.23136	.	.	ENSG00000132326	ENST00000254657	T	0.14022	2.54	5.2	-10.4	0.00318	Period circadian-like, C-terminal (1);	1.078900	0.07096	N	0.839661	T	0.05960	0.0155	N	0.13235	0.315	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.15484	0.013;0.013	T	0.30707	-0.9969	10	0.25106	T	0.35	-0.2481	8.8382	0.35126	0.0736:0.0815:0.2195:0.6254	.	1201;1201	B4DH14;O15055	.;PER2_HUMAN	T	1201	ENSP00000254657:A1201T	ENSP00000254657:A1201T	A	-	1	0	PER2	238822459	0.150000	0.22732	0.000000	0.03702	0.005000	0.04900	0.223000	0.17719	-3.405000	0.00170	-1.261000	0.01458	GCA		0.562	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		T	239157720	C	T	239157720	3	4	267	1	0	0	0	0	1	0	0	0	11730	768	27	1	174	1	PER2	2	239157720	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4555393	239157720	4041653	15	19049											
CLSTN2	64084	broad.mit.edu	37	chr3	140275468	140275468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcagttcccaacggcGggtgtgcggcgcctcaaagt	7	7	14	13	4	1	0	1	0	0	0	3	0	3	0	3	4	2	2	3	4	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:140275468G>A	ENST00000458420.3	+	11	1978	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	596					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCCAACGGCGGGTGTGCGGC	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0		p.T595M(1)|p.A596V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1786-1788)gcG>gcA		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.							99	89	93					3																	140275468		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140275468G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1788G>A	3.37:g.140275468G>A		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.A596A	p.A596A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			10	1978	+			596					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1788G>A	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		A	140275468	G	A	140275468	2	1	267	1	0	0	0	0	0	0	0	1	3562	1103	39	2		2	CLSTN2	3	140275468	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08		140275468	57746962	16	19050											
ZBTB38	253461	broad.mit.edu	37	chr3	141163945	141163945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgaagtgttcgatgaCgcaagtgaccaggattccac	12	9	12	8	2	0	4	0	4	0	0	2	6	1	5	2	1	0	2	2	1	2	2	rs376715153		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141163945C>T	ENST00000514251.1	+	4	2994	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D	ZBTB38_ENST00000441582.2_Silent_p.D905D|ZBTB38_ENST00000321464.5_Silent_p.D906D					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTTCGATGACGCAAGTGACC	0.498																																						uc010hup.3																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2716-2718)gaC>gaT		Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.							58	59	58					3																	141163945		1997	4167	6164	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163945C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2715C>T	3.37:g.141163945C>T						ZBTB38_uc003etw.3_Silent_p.D905D|ZBTB38_uc010hun.3_Silent_p.D902D|ZBTB38_uc010huo.3_Silent_p.D905D|ZBTB38_uc003ety.3_Silent_p.D905D|ZBTB38_uc021xes.1_Silent_p.D905D	p.D906D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			1	2765	+			905						Silent	SNP	ENST00000514251.1	37	c.2718C>T	CCDS43157.1																																																																																				0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			T	141163945	C	T	141163945	2	4	267	1	0	0	0	0	0	0	0	1	17536	535	19	1		1	ZBTB38	3	141163945	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	888477	141163945	56858485	17	19051											
GRK7	131890	broad.mit.edu	37	chr3	141499458	141499458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctacaacgtgggcacGcgtggcctggacatgagccg	9	6	13	13	4	1	1	0	1	1	0	1	2	1	2	2	3	3	1	2	3	2	1	rs377371842		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141499458G>A	ENST00000264952.2	+	2	992	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACGTGGGCACGCGTGGCCTGG	0.557																																						uc011bnd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(853-855)acG>acA		Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.		G		0,4406		0,0,2203	107	101	103		855	-8.4	0	3		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRK7	NM_139209.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		285/554	141499458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499458G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.855G>A	3.37:g.141499458G>A							p.T285T	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			1	939	+			285			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.855G>A	CCDS3120.1																																																																																				0.557	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		A	141499458	G	A	141499458	2	1	267	1	0	0	0	0	0	0	0	1	6794	1074	38	1		1	GRK7	3	141499458	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	335513	141499458	56522972	18	19052											
TPRG1	285386	broad.mit.edu	37	chr3	189038544	189038544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacctacacagggctgAtgtcattcattggaaaccgc	11	10	10	10	1	2	2	2	2	0	1	2	4	2	3	2	2	2	1	2	2	2	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:189038544A>T	ENST00000345063.3	+	6	930	c.763A>T	c.(763-765)Atg>Ttg	p.M255L	TPRG1_ENST00000433971.1_Missense_Mutation_p.M255L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	255						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAGGGCTGATGTCATTCAT	0.433																																						uc003frv.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(763-765)Atg>Ttg		Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.							113	101	105					3																	189038544		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189038544A>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.763A>T	3.37:g.189038544A>T	ENSP00000341031:p.Met255Leu					TPRG1_uc003frw.2_Missense_Mutation_p.M255L	p.M255L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	10	1990	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	255						Missense_Mutation	SNP	ENST00000345063.3	37	c.763A>T	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551856	0.86127	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.74647	2.275	0.54753	D	0.999987	P	0.39940	0.696	P	0.54238	0.746	T	0.74506	-0.3643	8	.	.	.	-26.6894	13.9016	0.63806	1.0:0.0:0.0:0.0	.	255	Q6ZUI0	TPRG1_HUMAN	L	255	.	.	M	+	1	0	TPRG1	190521238	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.939000	0.63526	2.173000	0.68751	0.460000	0.39030	ATG		0.433	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		T	189038544	A	T	189038544	3	4	267	1	0	0	0	0	1	0	0	0	16415	333	12	5	781	5	TPRG1	3	189038544	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	47539086	189038544	8983886	19	19053											
GAK	2580	broad.mit.edu	37	chr4	860238	860238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacggtcacagagtccgaaTtgagaaattcgccgaagaga	14	6	13	8	4	1	3	1	1	0	3	3	8	2	4	2	2	0	0	2	2	3	2	rs200252102		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:860238T>C	ENST00000314167.4	-	22	3067	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	GAK_ENST00000511163.1_Missense_Mutation_p.N907S|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	986					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAGTCCGAATTGAGAAATTC	0.622													T|||	1	0.000199681	0	0.0014	5008	,	,		17270	0		0	False		,,,				2504	0					uc003gbm.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(2956-2958)aAt>aGt		Homo sapiens cyclin G associated kinase (GAK), mRNA.							90	86	88					4																	860238		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860238T>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2957A>G	4.37:g.860238T>C	ENSP00000314499:p.Asn986Ser					GAK_uc003gbn.4_Missense_Mutation_p.N907S|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.N839S	p.N986S	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	3156	-			986					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2957A>G	CCDS3340.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	T|T	9.871|9.871	1.198935|1.198935	0.22121|0.22121	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000511980|ENST00000398567;ENST00000314167;ENST00000511163	.|T;T	.|0.76060	.|-0.58;-0.99	5.14|5.14	-1.79|-1.79	0.07932|0.07932	.|.	.|0.719550	.|0.14607	.|N	.|0.309297	T|T	0.56848|0.56848	0.2013|0.2013	L|L	0.35644|0.35644	1.08|1.08	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15473	.|0.004;0.013;0.002;0.004	.|B;B;B;B	.|0.19148	.|0.024;0.018;0.009;0.004	T|T	0.38067|0.38067	-0.9678|-0.9678	5|10	.|0.20046	.|T	.|0.44	-0.9337|-0.9337	6.4361|6.4361	0.21825|0.21825	0.0:0.4269:0.163:0.4101|0.0:0.4269:0.163:0.4101	.|.	.|888;907;986;871	.|B4DS37;E9PGR2;O14976;Q59HA5	.|.;.;GAK_HUMAN;.	V|S	98|262;986;907	.|ENSP00000314499:N986S;ENSP00000421361:N907S	.|ENSP00000314499:N986S	I|N	-|-	1|2	0|0	GAK|GAK	850238|850238	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.041000|0.041000	0.13682|0.13682	0.304000|0.304000	0.19228|0.19228	-0.565000|-0.565000	0.06061|0.06061	-0.361000|-0.361000	0.07541|0.07541	ATT|AAT		0.622	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		C	860238	T	C	860238	3	2	267	1	0	0	0	0	1	0	0	0	6195	1493	52	4	1006	4	GAK	4	860238	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08		860238	190294038	20	19054											
RASSF6	166824	broad.mit.edu	37	chr4	74477540	74477540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttgagatggtctgaGgatatcctaaacatgagaat	12	14	9	6	0	1	3	0	3	1	2	3	6	3	4	2	2	1	0	2	2	4	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:74477540G>T	ENST00000342081.3	-	2	199	c.69C>A	c.(67-69)tcC>tcA	p.S23S	RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000307439.5_5'UTR|RASSF6_ENST00000512591.1_5'UTR|RASSF6_ENST00000395777.2_5'UTR	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	23					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATGGTCTGAGGATATCCTAA	0.343																																						uc003hhd.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(67-69)tcC>tcA		Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.							192	180	184					4																	74477540		2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74477540G>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.69C>A	4.37:g.74477540G>T						RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	p.S23S	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	192	-	Breast(15;0.00102)		23					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.69C>A	CCDS3558.1																																																																																				0.343	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		T	74477540	G	T	74477540	2	4	267	1	0	0	0	0	0	0	0	1	13090	987	35	5		5	RASSF6	4	74477540	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	73617302	74477540	116676736	21	19055											
FRAS1	80144	broad.mit.edu	37	chr4	79343100	79343100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggcaaagtcatgtacCgccctcccccggcagcaccc	9	4	9	19	2	1	0	1	0	0	0	2	0	2	0	6	2	2	4	6	2	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:79343100C>T	ENST00000325942.6	+	34	5064	c.4624C>T	c.(4624-4626)Cgc>Tgc	p.R1542C	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1542C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1542					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTCATGTACCGCCCTCCCCC	0.567																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4624-4626)Cgc>Tgc		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							147	162	157					4																	79343100		2059	4183	6242	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79343100C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4624C>T	4.37:g.79343100C>T	ENSP00000326330:p.Arg1542Cys					FRAS1_uc003hkw.3_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.2_Intron	p.R1542C	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			33	5064	+			1541					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4624C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575333	0.86645	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.69175	-0.38;-0.38	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84377	0.0547	10	0.87932	D	0	.	19.6863	0.95981	0.0:1.0:0.0:0.0	.	1542;1542	E9PHH6;A2RRR8	.;.	C	1542	ENSP00000326330:R1542C;ENSP00000264895:R1542C	ENSP00000264895:R1542C	R	+	1	0	FRAS1	79562124	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.024000	0.64090	2.746000	0.94184	0.591000	0.81541	CGC		0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79343100	C	T	79343100	3	4	267	1	0	0	0	0	1	0	0	0	6042	652	23	2	4758	2	FRAS1	4	79343100	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4865560	79343100	111811176	22	19056											
AGXT2L1	64850	broad.mit.edu	37	chr4	109667592	109667592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggtccaccatgaacttTgcatcttcttcagtgaagca	10	13	8	10	0	3	2	1	2	2	0	4	2	4	2	2	1	3	3	2	1	2	4	rs372406167		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:109667592T>C	ENST00000296486.3	-	11	1420	c.1266A>G	c.(1264-1266)gcA>gcG	p.A422A	ETNPPL_ENST00000510706.1_Silent_p.A382A|ETNPPL_ENST00000411864.2_Silent_p.A416A|ETNPPL_ENST00000512646.1_Silent_p.A364A	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	422						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CCATGAACTTTGCATCTTCTT	0.423																																						uc003hzc.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25						c.(1264-1266)gcA>gcG		Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.		T	,,	0,4406		0,0,2203	121	109	113		1248,1092,1266	-10.1	0	4		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AGXT2L1	NM_001146590.1,NM_001146627.1,NM_031279.3	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	416/494,364/442,422/500	109667592	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109667592T>C	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1266A>G	4.37:g.109667592T>C						AGXT2L1_uc010imc.3_Silent_p.A416A|AGXT2L1_uc011cfm.2_Silent_p.A382A|AGXT2L1_uc011cfn.2_Silent_p.A349A|AGXT2L1_uc011cfo.2_Silent_p.A364A	p.A422A	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	10	1447	-			422					B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	c.1266A>G	CCDS3682.1																																																																																				0.423	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		C	109667592	T	C	109667592	2	2	267	1	0	0	0	0	0	0	0	1	406	1799	63	4		4	AGXT2L1	4	109667592	Silent	SNP	T	TCGA-76-6192-01A-11D-1696-08	30324492	109667592	81486684	23	19057											
TRIO	7204	broad.mit.edu	37	chr5	14389446	14389446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagattccacctggcAttgtaaacaaagaactcatc	15	9	8	9	0	1	2	1	0	0	2	3	4	2	3	2	2	2	2	2	2	5	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:14389446A>G	ENST00000344204.4	+	25	4021	c.3997A>G	c.(3997-3999)Att>Gtt	p.I1333V	TRIO_ENST00000537187.1_Missense_Mutation_p.I1333V|TRIO_ENST00000509967.2_Missense_Mutation_p.I1284V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1333	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACCTGGCATTGTAAACAA	0.408																																						uc003jff.3																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3997-3999)Att>Gtt		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							105	105	105					5																	14389446		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14389446A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3997A>G	5.37:g.14389446A>G	ENSP00000339299:p.Ile1333Val					TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	p.I1333V	NM_007118	NP_009049	O75962	TRIO_HUMAN			24	4003	+	Lung NSC(4;0.000742)		1333			DH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3997A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338900	0.60963	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.62498	0.02;0.02;0.02	6.03	6.03	0.97812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.37750	1.13	0.54753	D	0.999986	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.49790	-0.8902	10	0.48119	T	0.1	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	1284;1333;1333	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	1333;1333;1284;1020	ENSP00000339299:I1333V;ENSP00000446348:I1333V;ENSP00000445592:I1284V	ENSP00000339299:I1333V	I	+	1	0	TRIO	14442446	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	ATT		0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14389446	A	G	14389446	3	3	267	1	0	0	0	0	1	0	0	0	16549	217	8	4	4095	4	TRIO	5	14389446	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08		14389446	166525814	24	19058											
AP3B1	8546	broad.mit.edu	37	chr5	77477403	77477403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatctggatccatagtataCggcttcttctttttgtcagt	7	18	8	8	1	4	1	1	1	3	0	5	2	5	2	1	2	1	2	1	2	3	7	rs566729844		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:77477403C>T	ENST00000255194.6	-	8	1045	c.870G>A	c.(868-870)ccG>ccA	p.P290P	AP3B1_ENST00000519295.1_Silent_p.P241P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	290					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCATAGTATACGGCTTCTTCT	0.343									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(868-870)ccG>ccA		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							123	121	122					5																	77477403		2203	4299	6502	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77477403C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.870G>A	5.37:g.77477403C>T							p.P290P	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	7	995	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	290					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.870G>A	CCDS4041.1																																																																																				0.343	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			T	77477403	C	T	77477403	2	4	267	1	0	0	0	0	0	0	0	1	744	523	19	1		1	AP3B1	5	77477403	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	63087957	77477403	103437857	25	19059											
RGMB	285704	broad.mit.edu	37	chr5	98128833	98128833	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagtgtacagatcagaaAgtctaccaagctgtgacaga	15	8	10	8	0	2	5	1	2	1	3	2	5	2	5	1	0	3	2	1	0	4	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:98128833A>G	ENST00000513185.1	+	3	1126	c.690A>G	c.(688-690)aaA>aaG	p.K230K	RGMB_ENST00000308234.7_Silent_p.K271K			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	230					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAGATCAGAAAGTCTACCAAG	0.527																																						uc003knc.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(811-813)aaA>aaG		Homo sapiens RGM domain family, member B (RGMB), mRNA.							53	52	52					5																	98128833		2020	4185	6205	SO:0001819	synonymous_variant	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98128833A>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.690A>G	5.37:g.98128833A>G							p.K271K	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	1215	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	230					D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37	c.813A>G																																																																																					0.527	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		G	98128833	A	G	98128833	2	3	267	1	0	0	0	0	0	0	0	1	13281	69	3	4		4	RGMB	5	98128833	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	20651430	98128833	82786427	26	19060											
PCDHA13	56136	broad.mit.edu	37	chr5	140263481	140263481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgcgactctggcgtgcCgcctctgggcagcaacgtga	5	6	15	15	7	2	1	0	1	2	0	2	2	2	1	2	2	3	2	2	2	1	0	rs199847007		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140263481C>T	ENST00000289272.2	+	1	1628	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P543L|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGCGTGCCGCCTCTGGGC	0.692																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1627-1629)cCg>cTg		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							72	78	76					5																	140263481		2203	4299	6502	SO:0001583	missense	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263481C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1628C>T	5.37:g.140263481C>T	ENSP00000289272:p.Pro543Leu					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P543L|PCDHAC2_uc003lid.3_Missense_Mutation_p.P543L	p.P543L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1628	+			557			Cadherin 5.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1628C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742533	0.69418	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.57436	0.4;0.4	4.39	3.51	0.40186	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75339	0.3836	M	0.88310	2.945	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.991;0.984	T	0.80999	-0.1131	9	0.87932	D	0	.	13.9759	0.64273	0.0:0.8466:0.1534:0.0	.	543;543;543	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	543	ENSP00000386821:P543L;ENSP00000289272:P543L	ENSP00000289272:P543L	P	+	2	0	PCDHA13	140243665	0.997000	0.39634	0.712000	0.30502	0.928000	0.56348	3.997000	0.57016	1.027000	0.39758	0.561000	0.74099	CCG		0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263481	C	T	140263481	3	4	267	1	0	0	0	0	1	0	0	0	11523	652	23	2	1630	2	PCDHA13	5	140263481	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	42134648	140263481	40651779	27	19061											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725753	140725753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgctcaggctgcggcGctggcacaagtcacgcctgc	5	6	15	15	4	2	0	2	0	0	0	2	0	2	0	1	4	2	5	1	4	1	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140725753G>A	ENST00000253812.6	+	1	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	718					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTGCGGCGCTGGCACAAG	0.677																																						uc003ljm.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2152-2154)cGc>cAc		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							64	71	69					5																	140725753		2203	4297	6500	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725753G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2153G>A	5.37:g.140725753G>A	ENSP00000253812:p.Arg718His					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R718H	p.R718H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2153	+			719					Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2153G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678445	0.47886	.	.	ENSG00000254245	ENST00000253812	T	0.21734	1.99	5.16	2.37	0.29283	.	0.344076	0.12505	U	0.462970	T	0.21227	0.0511	L	0.56769	1.78	0.19945	N	0.999942	B;B	0.29115	0.233;0.01	B;B	0.25759	0.063;0.02	T	0.12400	-1.0549	10	0.41790	T	0.15	.	10.8218	0.46610	0.2223:0.0:0.7777:0.0	.	718;718	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	718	ENSP00000253812:R718H	ENSP00000253812:R718H	R	+	2	0	PCDHGA3	140705937	0.002000	0.14202	0.934000	0.37439	0.575000	0.36095	1.342000	0.33919	0.693000	0.31634	0.563000	0.77884	CGC		0.677	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		A	140725753	G	A	140725753	3	1	267	1	0	0	0	0	1	0	0	0	11555	1087	38	1	2155	1	PCDHGA3	5	140725753	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	462272	140725753	40189507	28	19062											
CCDC99	54908	broad.mit.edu	37	chr5	169028402	169028402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtttatcgattaccGcctcagaaagaggagacaca	15	7	11	8	2	1	4	1	0	0	4	2	7	1	4	2	2	1	1	2	2	4	3	rs529689293		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:169028402G>A	ENST00000265295.4	+	11	1722	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ATCGATTACCGCCTCAGAAAG	0.438													G|||	1	0.000199681	0	0	5008	,	,		17485	0		0	False		,,,				2504	0.001					uc003mae.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25						c.(1441-1443)ccG>ccA		Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.							105	107	106					5																	169028402		2203	4300	6503	SO:0001819	synonymous_variant	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169028402G>A	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1443G>A	5.37:g.169028402G>A						CCDC99_uc010jjj.3_Silent_p.P410P|CCDC99_uc011deq.2_Silent_p.P298P|CCDC99_uc010jjk.3_Silent_p.P207P	p.P481P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1722	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	481						Silent	SNP	ENST00000265295.4	37	c.1443G>A	CCDS4370.1																																																																																				0.438	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		A	169028402	G	A	169028402	2	1	267	1	0	0	0	0	0	0	0	1	2876	1074	38	1		1	CCDC99	5	169028402	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	28302649	169028402	11886858	29	19063											
ZNF323	64288	broad.mit.edu	37	chr6	28297413	28297413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccagatagggtcttcCtccactttcacaatcttaag	9	13	7	12	0	3	1	1	0	2	1	6	1	6	1	3	2	0	0	3	2	3	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:28297413C>T	ENST00000414429.1	-	6	951	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZSCAN31_ENST00000344279.6_Silent_p.E16E|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Silent_p.E16E|ZSCAN31_ENST00000396838.2_Silent_p.E16E|ZSCAN31_ENST00000446474.1_Intron			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	16					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAGGGTCTTCCTCCACTTTCA	0.448																																						uc003nlc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						c.(46-48)gaG>gaA		Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.							84	81	82					6																	28297413		2203	4300	6503	SO:0001819	synonymous_variant	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297413C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.48G>A	6.37:g.28297413C>T						ZNF323_uc003nld.3_Silent_p.E16E|ZNF323_uc010jra.3_Silent_p.E16E|ZNF323_uc003nla.3_Silent_p.E16E|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Silent_p.E16E|ZNF323_uc021yrt.1_Intron	p.E16E	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN			1	437	-			16					Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	c.48G>A	CCDS4649.1																																																																																				0.448	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		T	28297413	C	T	28297413	2	4	267	1	0	0	0	0	0	0	0	1	17840	680	24	3		3	ZNF323	6	28297413	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		28297413	142817654	30	19064											
EHMT2	10919	broad.mit.edu	37	chr6	31856011	31856011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggccttgtggaagcGgtgggccacacggaagtcag	10	5	15	11	2	1	0	1	0	0	0	1	2	1	2	2	5	1	0	2	5	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:31856011G>A	ENST00000375537.4	-	13	1558	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	EHMT2_ENST00000375528.4_Missense_Mutation_p.R541C|EHMT2_ENST00000375530.4_Missense_Mutation_p.R484C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.R575C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	518					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGTGGAAGCGGTGGGCCACA	0.622																																						uc003nxz.1																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(1552-1554)Cgc>Tgc		Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.							69	64	66					6																	31856011		1508	2709	4217	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31856011G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1552C>T	6.37:g.31856011G>A	ENSP00000364687:p.Arg518Cys					EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	p.R518C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			12	1562	-			518					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.1552C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055865	0.76074	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.73469	-0.75;-0.55;-0.49;-0.74	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.81903	0.4921	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.991;0.995;0.988;0.991	D	0.83927	0.0304	10	0.66056	D	0.02	.	16.2436	0.82429	0.0:0.0:1.0:0.0	.	541;484;518;332	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	C	575;541;484;518;332	ENSP00000379078:R575C;ENSP00000364678:R541C;ENSP00000364680:R484C;ENSP00000364687:R518C	ENSP00000364678:R541C	R	-	1	0	EHMT2	31963990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.358000	0.79984	0.555000	0.69702	CGC		0.622	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31856011	G	A	31856011	3	1	267	1	0	0	0	0	1	0	0	0	4984	1116	39	2	2144	2	EHMT2	6	31856011	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	3558598	31856011	139259056	31	19065											
SLC26A8	116369	broad.mit.edu	37	chr6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagattgtaagcacgcatcGtaggaacctgtgccatgagc	13	8	11	9	2	0	2	0	1	0	1	1	3	0	3	2	1	4	4	2	1	4	3	rs201650524		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:35980127G>A	ENST00000490799.1	-	3	564	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.R71*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.R71*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(211-213)Cga>Tga		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							145	133	137					6																	35980127		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980127G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.211C>T	6.37:g.35980127G>A	ENSP00000417638:p.Arg71*					SLC26A8_uc003oll.3_Nonsense_Mutation_p.R71*|SLC26A8_uc003oln.3_Nonsense_Mutation_p.R71*	p.R71*	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN			2	322	-			71						Nonsense_Mutation	SNP	ENST00000490799.1	37	c.211C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805946	0.96967	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	.	.	.	5.81	4.66	0.58398	.	0.619767	0.15937	N	0.237391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9731	0.41765	0.0:0.0:0.1799:0.8201	.	.	.	.	X	71;71;71;157	.	ENSP00000347778:R71X	R	-	1	2	SLC26A8	36088105	0.005000	0.15991	0.170000	0.22879	0.859000	0.49053	1.088000	0.30877	1.035000	0.39972	-0.271000	0.10264	CGA		0.468	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			A	35980127	G	A	35980127	4	1	267	1	0	0	0	0	0	1	0	0	14523	1153	40	1	2773	1	SLC26A8	6	35980127	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	4124116	35980127	135134940	32	19066											
RAPGEF5	9771	broad.mit.edu	37	chr7	22202112	22202112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactttacgtttcctacgcGgaacgtctgagttttcctct	7	15	8	11	4	2	2	0	1	2	1	4	3	4	3	2	1	3	2	2	1	3	6			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:22202112G>A	ENST00000401957.2	-	3	669	c.422C>T	c.(421-423)cCg>cTg	p.P141L	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.P291L			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	141	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343																																						uc003svg.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(871-873)cCg>cTg		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.							78	76	77					7																	22202112		1843	4086	5929	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22202112G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.422C>T	7.37:g.22202112G>A	ENSP00000384044:p.Pro141Leu					RAPGEF5_uc011jyl.1_5'UTR	p.P291L	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			12	1185	-			141					A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37	c.872C>T		.	.	.	.	.	.	.	.	.	.	G	14.36	2.510739	0.44660	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.51071	0.72;0.72;1.68	5.47	5.47	0.80525	.	0.284825	0.37577	N	0.002028	T	0.15609	0.0376	N	0.00677	-1.265	0.45852	D	0.998713	B	0.12630	0.006	B	0.10450	0.005	T	0.31916	-0.9926	10	0.02654	T	1	.	12.6465	0.56738	0.0758:0.0:0.9242:0.0	.	291	A8MQ07	.	L	291;141;141;141;29	ENSP00000343656:P291L;ENSP00000384044:P141L;ENSP00000415664:P29L	ENSP00000258735:P141L	P	-	2	0	RAPGEF5	22168637	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	6.279000	0.72620	2.547000	0.85894	0.643000	0.83706	CCG		0.343	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		A	22202112	G	A	22202112	3	1	267	1	0	0	0	0	1	0	0	0	13047	1116	39	2	1376	2	RAPGEF5	7	22202112	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		22202112	136936551	33	19067											
ANLN	54443	broad.mit.edu	37	chr7	36478889	36478889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattccagtgttgaagaaaGaggttttctagtaagtaaca	15	12	10	4	0	1	3	0	1	1	2	2	4	2	3	1	1	1	4	1	1	6	7			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:36478889G>C	ENST00000265748.2	+	21	3181	c.2960G>C	c.(2959-2961)aGa>aCa	p.R987T	ANLN_ENST00000396068.2_Missense_Mutation_p.R950T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	987	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTGAAGAAAGAGGTTTTCTA	0.303																																						uc003tff.3																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2959-2961)aGa>aCa		Homo sapiens anillin, actin binding protein (ANLN), mRNA.							79	77	78					7																	36478889		2195	4291	6486	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36478889G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2960G>C	7.37:g.36478889G>C	ENSP00000265748:p.Arg987Thr					ANLN_uc011kaz.2_Missense_Mutation_p.R899T|ANLN_uc003tfg.3_Missense_Mutation_p.R950T|ANLN_uc010kxe.3_Missense_Mutation_p.R949T	p.R987T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			20	3164	+			987			Localization to the cleavage furrow.|PH.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2960G>C	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.61|13.61|13.61	2.288127|2.288127|2.288127	0.40494|0.40494|0.40494	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000457743|ENST00000428612|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.75477	.|.|-0.94;-0.94	5.16|5.16|5.16	2.06|2.06|2.06	0.26882|0.26882|0.26882	.|.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|.|0.189149	.|.|0.53938	.|.|D	.|.|0.000050	T|T|T	0.71409|0.71409|0.71409	0.3336|0.3336|0.3336	M|M|M	0.69248|0.69248|0.69248	2.105|2.105|2.105	0.30797|0.30797|0.30797	N|N|N	0.740284|0.740284|0.740284	.|.|P;P;P;P	.|.|0.47910	.|.|0.882;0.902;0.88;0.902	.|.|B;P;B;P	.|.|0.45037	.|.|0.383;0.467;0.336;0.467	T|T|T	0.71547|0.71547|0.71547	-0.4560|-0.4560|-0.4560	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-2.1956|-2.1956|-2.1956	7.7195|7.7195|7.7195	0.28723|0.28723|0.28723	0.5772:0.0:0.4228:0.0|0.5772:0.0:0.4228:0.0|0.5772:0.0:0.4228:0.0	.|.|.	.|.|864;949;950;987	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Q|N|T	209|151|987;950	.|.|ENSP00000265748:R987T;ENSP00000379380:R950T	.|.|ENSP00000265748:R987T	E|K|R	+|+|+	1|3|2	0|2|0	ANLN|ANLN|ANLN	36445414|36445414|36445414	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.955000|0.955000|0.955000	0.61496|0.61496|0.61496	0.875000|0.875000|0.875000	0.28079|0.28079|0.28079	0.153000|0.153000|0.153000	0.19213|0.19213|0.19213	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	GAG|AAG|AGA		0.303	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		C	36478889	G	C	36478889	3	2	267	1	0	0	0	0	1	0	0	0	694	942	33	5	3042	5	ANLN	7	36478889	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	14276777	36478889	122659774	34	19068											
TNS3	64759	broad.mit.edu	37	chr7	47336762	47336762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcggaaggaatggctGtctcgaacaatgaatgagcc	11	7	12	11	2	1	2	0	2	1	0	3	5	1	4	3	3	2	1	3	3	5	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:47336762G>A	ENST00000398879.1	-	24	3960	c.3594C>T	c.(3592-3594)gaC>gaT	p.D1198D	TNS3_ENST00000355730.3_Silent_p.D958D|TNS3_ENST00000311160.9_Silent_p.D1198D			Q68CZ2	TENS3_HUMAN	tensin 3	1198	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGAATGGCTGTCTCGAACAA	0.567																																						uc003tnw.3																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3592-3594)gaC>gaT		Homo sapiens tensin 3 (TNS3), mRNA.							80	87	85					7																	47336762		1925	4120	6045	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47336762G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3594C>T	7.37:g.47336762G>A						TNS3_uc022acn.1_Silent_p.D755D	p.D1198D	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			23	3952	-			1198			SH2.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.3594C>T	CCDS5506.2																																																																																				0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47336762	G	A	47336762	2	1	267	1	0	0	0	0	0	0	0	1	16341	1368	48	3		3	TNS3	7	47336762	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	10857873	47336762	111801901	35	19069											
PCLO	27445	broad.mit.edu	37	chr7	82764222	82764222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttggccagcggtaggtcGtgggccagggggtgttggtg	4	10	21	6	2	0	0	0	0	0	0	1	0	0	0	2	7	1	3	2	7	1	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:82764222G>A	ENST00000333891.9	-	3	2981	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R882*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGGTAGGTCGTGGGCCAGGG	0.517																																						uc003uhx.2																			0		p.R882L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2644-2646)Cga>Tga		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							202	203	203					7																	82764222		1987	4163	6150	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764222G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2644C>T	7.37:g.82764222G>A	ENSP00000334319:p.Arg882*					PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	p.R882*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	2933	-			828			Pro-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.2644C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	45	12.034250	0.99629	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.93	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.7144	0.34403	0.0793:0.0:0.5472:0.3735	.	.	.	.	X	828;882;882	.	ENSP00000334319:R882X	R	-	1	2	PCLO	82602158	0.996000	0.38824	0.962000	0.40283	0.960000	0.62799	1.088000	0.30877	0.835000	0.34877	0.561000	0.74099	CGA		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82764222	G	A	82764222	4	1	267	1	0	0	0	0	0	1	0	0	11583	1153	40	1	12893	1	PCLO	7	82764222	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	35427460	82764222	76374441	36	19070											
MUC17	140453	broad.mit.edu	37	chr7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacatctacaaatgtcGtggagccaagaatgtatttg	14	11	9	7	1	1	1	0	0	1	1	2	2	1	2	1	1	4	2	1	1	7	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:100674926G>A	ENST00000306151.4	+	3	293	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	77					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAAATGTCGTGGAGCCAAG	0.448																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(229-231)Gtg>Atg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							104	97	99					7																	100674926		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674926G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.229G>A	7.37:g.100674926G>A	ENSP00000302716:p.Val77Met					MUC17_uc010lho.1_Non-coding_Transcript	p.V77M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	282	+	Lung NSC(181;0.136)|all_lung(186;0.182)		77					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.229G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.888800	0.00060	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.694	-1.39	0.08997	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	P	0.49961	0.93	B	0.26693	0.072	T	0.42849	-0.9427	8	0.34782	T	0.22	.	.	.	.	.	77	Q685J3	MUC17_HUMAN	M	77	ENSP00000302716:V77M	ENSP00000302716:V77M	V	+	1	0	MUC17	100461646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.447000	0.00467	-4.233000	0.00063	-4.557000	0.00004	GTG		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100674926	G	A	100674926	3	1	267	1	0	0	0	0	1	0	0	0	9974	1145	40	1	239	1	MUC17	7	100674926	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	17910704	100674926	58463737	37	19071											
ASB10	136371	broad.mit.edu	37	chr7	150878052	150878052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcccctggccagacacGgacggcgccatggttgagca	8	4	16	13	3	0	2	0	1	0	1	0	4	0	3	4	5	1	2	4	5	0	1	rs104886484	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:150878052G>A	ENST00000420175.2	-	3	1102	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	ASB10_ENST00000434669.1_Missense_Mutation_p.R405C|ASB10_ENST00000377867.3_Missense_Mutation_p.R345C|ASB10_ENST00000422024.1_Missense_Mutation_p.R405C|ASB10_ENST00000275838.1_Missense_Mutation_p.R360C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	360			R -> H (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCAGACACGGACGGCGCCA	0.701													G|||	6	0.00119808	0.0015	0	5008	,	,		18127	0.003		0	False		,,,				2504	0.001					uc003wjm.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1078-1080)Cgt>Tgt		Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	7,4363		0,7,2178	12	13	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1078,1078,1033	2	0.8	7	dbSNP_132	12	0,8516		0,0,4258	yes	missense,missense,missense	ASB10	NM_001142459.1,NM_001142460.1,NM_080871.3	180,180,180	0,7,6436	AA,AG,GG		0.0,0.1602,0.0543	probably-damaging,probably-damaging,probably-damaging	360/468,360/430,345/453	150878052	7,12879	2185	4258	6443	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878052G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1078C>T	7.37:g.150878052G>A	ENSP00000391137:p.Arg360Cys					ASB10_uc003wjl.1_Missense_Mutation_p.R360C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	p.R360C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1339	-			360					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1078C>T	CCDS47750.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.63	1.995255	0.35226	0.001602	0.0	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.70045	-0.44;-0.4;-0.43;-0.45;-0.44	5.12	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	L	0.33624	1.015	0.80722	D	1	D;D;D	0.89917	1.0;0.96;1.0	D;B;D	0.97110	1.0;0.424;0.999	T	0.66650	-0.5870	10	0.54805	T	0.06	-5.4431	7.9246	0.29867	0.0749:0.0:0.5352:0.3899	.	345;360;405	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	360;345;405;405;360	ENSP00000275838:R360C;ENSP00000367098:R345C;ENSP00000401369:R405C;ENSP00000398247:R405C;ENSP00000391137:R360C	ENSP00000275838:R360C	R	-	1	0	ASB10	150508985	1.000000	0.71417	0.776000	0.31678	0.164000	0.22412	2.266000	0.43320	0.592000	0.29728	0.591000	0.81541	CGT		0.701	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		A	150878052	G	A	150878052	3	1	267	1	0	0	0	0	1	0	0	0	1014	1116	39	2	337	2	ASB10	7	150878052	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	50203126	150878052	8260611	38	19072											
MLL3	58508	broad.mit.edu	37	chr7	151921652	151921652	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccacaggcctcacacAcagtgcactcaagacacctc	11	6	5	19	0	2	1	2	0	0	1	4	1	3	1	4	1	1	1	4	1	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:151921652A>C	ENST00000262189.6	-	19	3244	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1009G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1009					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCCTCACACACAGTGCACTC	0.448																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(3025-3027)gTg>gGg		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							17	16	16					7																	151921652		2182	4271	6453	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151921652A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3026T>G	7.37:g.151921652A>C	ENSP00000262189:p.Val1009Gly					MLL3_uc003wkz.3_Missense_Mutation_p.V70G	p.V1009G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3245	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1009					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3026T>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.53|17.53	3.413581|3.413581	0.62511|0.62511	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.85013	.|-1.93;-1.93	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, PHD-finger (3);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.41712	.|D	.|0.000828	D|D	0.93138|0.93138	0.7815|0.7815	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.94411|0.94411	0.7632|0.7632	5|10	.|0.87932	.|D	.|0	.|.	14.4111|14.4111	0.67115|0.67115	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1009;70	.|Q8NEZ4;Q8NEZ4-2	.|MLL3_HUMAN;.	W|G	164|1009	.|ENSP00000262189:V1009G;ENSP00000347325:V1009G	.|ENSP00000262189:V1009G	C|V	-|-	3|2	2|0	MLL3|MLL3	151552585|151552585	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.277000|9.277000	0.95755|0.95755	1.813000|1.813000	0.52934|0.52934	0.528000|0.528000	0.53228|0.53228	TGT|GTG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151921652	A	C	151921652	3	2	267	1	0	0	0	0	1	0	0	0	9622	159	6	5	11873	5	MLL3	7	151921652	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	1043600	151921652	7217011	39	19073											
NFIB	4781	broad.mit.edu	37	chr9	14307176	14307176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagacgccagactttgTctgcctgtcgcaggcagtcg	7	9	12	13	3	1	2	0	0	1	2	4	3	2	2	3	1	1	2	3	1	0	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:14307176T>C	ENST00000380959.3	-	2	847	c.374A>G	c.(373-375)gAc>gGc	p.D125G	NFIB_ENST00000380934.4_Missense_Mutation_p.D151G|NFIB_ENST00000380953.1_Missense_Mutation_p.D125G|NFIB_ENST00000397579.2_Missense_Mutation_p.D125G|NFIB_ENST00000380921.3_Missense_Mutation_p.D125G|NFIB_ENST00000397575.3_Missense_Mutation_p.D125G|NFIB_ENST00000397581.2_Missense_Mutation_p.D125G	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	125					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGACTTTGTCTGCCTGTCG	0.522			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc022bdo.1				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(373-375)gAc>gGc		Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.							111	116	114					9																	14307176		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307176T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.374A>G	9.37:g.14307176T>C	ENSP00000370346:p.Asp125Gly					NFIB_uc003zlf.3_Missense_Mutation_p.D125G|NFIB_uc003zle.3_Missense_Mutation_p.D125G|NFIB_uc022bdp.1_Missense_Mutation_p.D151G|NFIB_uc011lmo.2_Missense_Mutation_p.D125G	p.D125G	NM_001190737	NP_001177666	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	1	909	-			125					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.374A>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011155	0.75046	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.73469	-0.58;-0.51;-0.55;-0.71;-0.75;-0.45	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.044839	0.85682	D	0.000000	D	0.86711	0.5998	M	0.81802	2.56	0.80722	D	1	B;D;B	0.69078	0.271;0.997;0.409	B;D;B	0.79108	0.16;0.992;0.22	D	0.88549	0.3115	10	0.87932	D	0	.	16.0042	0.80349	0.0:0.0:0.0:1.0	.	125;125;125	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	G	151;125;125;125;125;125;125	ENSP00000370321:D151G;ENSP00000370346:D125G;ENSP00000370340:D125G;ENSP00000380705:D125G;ENSP00000380711:D125G;ENSP00000380709:D125G	ENSP00000370308:D125G	D	-	2	0	NFIB	14297176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.171000	0.68590	0.528000	0.53228	GAC		0.522	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		C	14307176	T	C	14307176	3	2	267	1	0	0	0	0	1	0	0	0	10371	1667	58	4	920	4	NFIB	9	14307176	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08		14307176	126906255	40	19074											
FAM75A6	389730	broad.mit.edu	37	chr9	43627272	43627272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagggttggcggtgggacAggggctgggcctggaaaagc	9	6	20	6	1	0	0	0	0	0	0	0	2	0	2	1	8	1	2	1	8	4	2	rs530611724	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:43627272A>G	ENST00000332857.6	-	4	1443	c.1415T>C	c.(1414-1416)cTg>cCg	p.L472P	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	472					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGTGGGACAGGGGCTGGGC	0.522													A|||	3	0.000599042	0	0.0014	5008	,	,		14261	0		0.001	False		,,,				2504	0.001					uc011lrb.2																			0				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						c.(1414-1416)cTg>cCg		Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.							94	109	105					9																	43627272		616	1533	2149	SO:0001583	missense	389730					integral to membrane		g.chr9:43627272A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1415T>C	9.37:g.43627272A>G	ENSP00000329825:p.Leu472Pro						p.L472P	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			3	1444	-			472						Missense_Mutation	SNP	ENST00000332857.6	37	c.1415T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	9.407	1.079525	0.20309	.	.	ENSG00000185775	ENST00000332857	T	0.24723	1.84	2.26	-0.312	0.12758	.	1.322040	0.05368	N	0.534949	T	0.18130	0.0435	L	0.35644	1.08	0.18873	N	0.999986	P	0.40398	0.716	B	0.37780	0.258	T	0.17930	-1.0353	10	0.42905	T	0.14	0.4866	2.7066	0.05164	0.5587:0.2757:0.1656:0.0	.	472	Q5VVP1	F75A6_HUMAN	P	472	ENSP00000329825:L472P	ENSP00000329825:L472P	L	-	2	0	FAM75A6	43567268	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.175000	0.09825	-0.064000	0.13043	-0.875000	0.02981	CTG		0.522	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		G	43627272	A	G	43627272	3	3	267	1	0	0	0	0	1	0	0	0	5622	188	7	4	2620	4	FAM75A6	9	43627272	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	29320096	43627272	97586159	41	19075											
TMC1	117531	broad.mit.edu	37	chr9	75445373	75445373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttaatttagtttggcCatctattatctcaatgctac	9	20	4	8	0	3	0	1	0	3	0	4	0	3	0	1	1	2	2	1	1	6	9			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:75445373C>T	ENST00000297784.5	+	22	2676	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	TMC1_ENST00000340019.3_Silent_p.A712A|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.A712A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	712					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTAGTTTGGCCATCTATTATC	0.303																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2134-2136)gcC>gcT		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							37	42	41					9																	75445373		2202	4298	6500	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75445373C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2136C>T	9.37:g.75445373C>T						TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	p.A712A	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			21	2676	+			712					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.2136C>T	CCDS6643.1																																																																																				0.303	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			T	75445373	C	T	75445373	2	4	267	1	0	0	0	0	0	0	0	1	15981	581	21	3		3	TMC1	9	75445373	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	31818101	75445373	65768058	42	19076											
PMPCA	23203	broad.mit.edu	37	chr9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagttggcctccaccGtttctgccccacagaaaacg	11	7	8	15	2	1	1	0	0	1	1	2	2	2	1	5	1	3	2	5	1	3	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:139311437G>A	ENST00000371717.3	+	7	677	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562																																						uc004chl.3																			0		p.R223C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(667-669)cGt>cAt		Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.							68	48	55					9																	139311437		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311437G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.668G>A	9.37:g.139311437G>A	ENSP00000360782:p.Arg223His					PMPCA_uc011mdz.2_Missense_Mutation_p.R92H|PMPCA_uc010nbl.3_Missense_Mutation_p.R123H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	p.R223H	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	6	673	+		Myeloproliferative disorder(178;0.0821)	223					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.668G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333421	0.95758	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.17213	2.29;2.29	5.81	5.81	0.92471	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.71414	0.915;0.973;0.973	T	0.01363	-1.1374	10	0.46703	T	0.11	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	92;223;223	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	223;92	ENSP00000360782:R223H;ENSP00000416702:R92H	ENSP00000360782:R223H	R	+	2	0	PMPCA	138431258	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.520000	0.98027	2.740000	0.93945	0.609000	0.83330	CGT		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		A	139311437	G	A	139311437	3	1	267	1	0	0	0	0	1	0	0	0	12140	1145	40	1	694	1	PMPCA	9	139311437	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	63866064	139311437	1901994	43	19077											
ITGA8	8516	broad.mit.edu	37	chr10	15649777	15649777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatcaaggaagagcgtccGtttaatagctcctttctgtt	9	15	9	8	2	2	1	1	0	1	1	4	2	4	2	2	1	2	4	2	1	5	6	rs538437434		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:15649777G>A	ENST00000378076.3	-	17	2016	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	555					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGAGCGTCCGTTTAATAGCT	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		17512	0		0	False		,,,				2504	0					uc001ioc.1																			0		p.R555Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1663-1665)Cgg>Tgg		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							138	132	134					10																	15649777		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649777G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1663C>T	10.37:g.15649777G>A	ENSP00000367316:p.Arg555Trp					ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	p.R555W	NM_003638	NP_003629	P53708	ITA8_HUMAN			16	1663	-			555					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1663C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471256	0.43942	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.80123	-1.34	5.84	2.53	0.30540	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91866	0.5503	10	0.87932	D	0	.	14.3952	0.67005	0.0:0.0:0.4319:0.5681	.	540;555	F5H818;P53708	.;ITA8_HUMAN	W	555;540	ENSP00000367316:R555W	ENSP00000367316:R555W	R	-	1	2	ITGA8	15689783	1.000000	0.71417	0.250000	0.24296	0.137000	0.21094	1.923000	0.40055	0.707000	0.31934	0.591000	0.81541	CGG		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15649777	G	A	15649777	3	1	267	1	0	0	0	0	1	0	0	0	7882	1144	40	1	1584	1	ITGA8	10	15649777	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		15649777	119884970	44	19078											
PTEN	5728	broad.mit.edu	37	chr10	89720650	89720650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttttttttttttaGgacaaaatgtttcacttttg	7	26	4	4	0	2	0	1	0	1	0	2	1	2	1	0	1	0	1	0	1	3	12			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:89720650G>A	ENST00000371953.3	+	8	2158		c.e8-1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e8-1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							22	23	23					10																	89720650		2151	4239	6390	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720650G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.802-1G>A	10.37:g.89720650G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.D268_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1834	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	268			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.802_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994774	0.74703	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89710630	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.325000	0.96381	2.399000	0.81585	0.591000	0.81541	.		0.264	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	A	89720650	G	A	89720650	5	1	267	1	0	0	0	0	0	0	1	0	12738	1014	35	3	831	3	PTEN	10	89720650	Splice_Site	SNP	G	TCGA-76-6192-01A-11D-1696-08	74070873	89720650	45814097	45	19079											
TRIM21	6737	broad.mit.edu	37	chr11	4406616	4406616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggactgaagaagggccGcagaggtcctgtaaaggcac	13	4	14	10	1	0	3	0	1	0	2	1	4	1	4	3	4	0	3	3	4	4	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:4406616G>A	ENST00000254436.7	-	7	1439	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	TRIM21_ENST00000543625.1_Missense_Mutation_p.R443W	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAGAAGGGCCGCAGAGGTCCT	0.488																																						uc001lyy.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(1327-1329)Cgg>Tgg		Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.							78	76	77					11																	4406616		1952	4148	6100	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4406616G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1327C>T	11.37:g.4406616G>A	ENSP00000254436:p.Arg443Trp						p.R443W	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	6	1440	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	443			B30.2/SPRY.		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.1327C>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574821	0.45902	.	.	ENSG00000132109	ENST00000533692;ENST00000254436;ENST00000543625	T;T	0.69685	-0.42;-0.42	4.32	0.103	0.14526	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.374019	0.19942	N	0.102631	T	0.61135	0.2323	L	0.50919	1.6	0.28742	N	0.901902	D	0.55172	0.97	P	0.49853	0.624	T	0.57046	-0.7878	10	0.49607	T	0.09	.	5.7367	0.18071	0.0939:0.0:0.4104:0.4956	.	443	P19474	RO52_HUMAN	W	73;443;443	ENSP00000254436:R443W;ENSP00000444045:R443W	ENSP00000254436:R443W	R	-	1	2	TRIM21	4363192	0.151000	0.22747	0.642000	0.29436	0.768000	0.43524	1.677000	0.37576	0.036000	0.15547	-0.150000	0.13652	CGG		0.488	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		A	4406616	G	A	4406616	3	1	267	1	0	0	0	0	1	0	0	0	16492	1086	38	1	104	1	TRIM21	11	4406616	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		4406616	130599900	46	19080											
OR52E4	390081	broad.mit.edu	37	chr11	5906308	5906308	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttttttcttttatgacAcatcgttttggccaaaacat	10	18	5	8	1	1	1	0	1	1	0	2	1	1	1	1	1	1	2	1	1	3	7			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:5906308A>T	ENST00000316987.2	+	1	808	c.786A>T	c.(784-786)acA>acT	p.T262T		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTTATGACACATCGTTTTG	0.423																																						uc010qzs.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(784-786)acA>acT		Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.							200	184	189					11																	5906308		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906308A>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.786A>T	11.37:g.5906308A>T						TRIM5_uc001mbq.1_Intron	p.T262T	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	786	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	262					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.786A>T	CCDS31401.1																																																																																				0.423	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		T	5906308	A	T	5906308	2	4	267	1	0	0	0	0	0	0	0	1	11116	146	6	5		5	OR52E4	11	5906308	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	1499692	5906308	129100208	47	19081											
BTBD10	84280	broad.mit.edu	37	chr11	13441120	13441120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatattccgagctccttcTtttgcattttcatatacaaa	10	18	3	10	1	2	0	1	0	1	0	4	1	4	0	2	0	3	2	2	0	5	10	rs533959399	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:13441120T>C	ENST00000278174.5	-	4	716	c.471A>G	c.(469-471)aaA>aaG	p.K157K	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Silent_p.K109K|BTBD10_ENST00000530907.1_Silent_p.K165K	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	157	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAGCTCCTTCTTTTGCATTTT	0.418													T|||	6	0.00119808	0	0	5008	,	,		16690	0		0	False		,,,				2504	0.0061					uc010rcl.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(493-495)aaA>aaG		Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.							233	224	227					11																	13441120		2200	4294	6494	SO:0001819	synonymous_variant	84280					nucleus		g.chr11:13441120T>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.471A>G	11.37:g.13441120T>C						BTBD10_uc001mkz.3_Silent_p.K157K|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Silent_p.K109K|BTBD10_uc010rcn.2_Silent_p.K126K|BTBD10_uc009ygo.3_Silent_p.K109K	p.K165K	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	2	766	-			157					B7Z228|Q86WG1	Silent	SNP	ENST00000278174.5	37	c.495A>G	CCDS7811.1																																																																																				0.418	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		C	13441120	T	C	13441120	2	2	267	1	0	0	0	0	0	0	0	1	1538	1606	56	4		4	BTBD10	11	13441120	Silent	SNP	T	TCGA-76-6192-01A-11D-1696-08	7534812	13441120	121565396	48	19082											
MMP7	4316	broad.mit.edu	37	chr11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcattatttctatgaCgcgggagtttaacattccag	9	15	8	9	2	2	1	0	1	2	0	3	2	3	2	1	1	2	2	1	1	3	7	rs145006821		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:102398591C>T	ENST00000260227.4	-	2	284	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	78					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V78I(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	ATTTCTATGACGCGGGAGTTT	0.408													C|||	1	0.000199681	0	0	5008	,	,		18024	0.001		0	False		,,,				2504	0					uc001phb.3																			1	Substitution - Missense(1)	p.V78I(2)|p.R77R(1)	large_intestine(1)	large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(232-234)Gtc>Atc		Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.		C	ILE/VAL	0,4406		0,0,2203	94	102	99		232	-8	0	11	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMP7	NM_002423.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	78/268	102398591	1,13003	2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102398591C>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.232G>A	11.37:g.102398591C>T	ENSP00000260227:p.Val78Ile					MMP7_uc009yxd.3_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	1	279	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	78					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.232G>A	CCDS8317.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.355	0.831875	0.16820	0.0	1.16E-4	ENSG00000137673	ENST00000260227	T	0.36340	1.26	5.39	-8.02	0.01118	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.131920	0.06679	N	0.767584	T	0.11580	0.0282	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.15052	0.012;0.002;0.003	T	0.37197	-0.9716	10	0.39692	T	0.17	-0.1407	7.6475	0.28329	0.0:0.3793:0.2089:0.4119	.	78;78;78	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	I	78	ENSP00000260227:V78I	ENSP00000260227:V78I	V	-	1	0	MMP7	101903801	0.002000	0.14202	0.000000	0.03702	0.062000	0.15995	0.628000	0.24522	-1.955000	0.01023	-1.384000	0.01168	GTC		0.408	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			T	102398591	C	T	102398591	3	4	267	1	0	0	0	0	1	0	0	0	9667	536	19	1	591	1	MMP7	11	102398591	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	88957471	102398591	32607925	49	19083											
TEAD4	7004	broad.mit.edu	37	chr12	3121377	3121377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcgtcgcaaagctcgCgagatccaggccaagctaaa	11	6	11	13	4	0	1	0	0	0	1	4	2	1	1	2	2	2	4	2	2	4	1	rs112112805		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:3121377C>T	ENST00000359864.2	+	5	523	c.333C>T	c.(331-333)cgC>cgT	p.R111R	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Silent_p.R111R	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	111					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAAAGCTCGCGAGATCCAGG	0.597																																						uc010sej.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(331-333)cgC>cgT		Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.		C	,,	1,4405	2.1+/-5.4	0,1,2202	74	62	66		333,333,	-10	0.5	12	dbSNP_132	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,utr-5	TEAD4	NM_003213.3,NM_201441.2,NM_201443.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	111/435,111/392,	3121377	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3121377C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.333C>T	12.37:g.3121377C>T						TEAD4_uc010sek.2_Silent_p.R111R|TEAD4_uc001qln.3_5'UTR	p.R111R	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		4	625	+	Ovarian(42;0.211)		111					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	ENST00000359864.2	37	c.333C>T	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151835	0.38021	2.27E-4	0.0	ENSG00000197905	ENST00000544666	.	.	.	4.98	-9.96	0.00443	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.994	2.5578	0.04764	0.1451:0.0981:0.25:0.5068	.	.	.	.	X	23	.	ENSP00000411475:R90X	R	+	1	2	TEAD4	2991638	0.001000	0.12720	0.461000	0.27105	0.083000	0.17756	-1.960000	0.01517	-2.421000	0.00563	-0.150000	0.13652	CGA		0.597	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213		T	3121377	C	T	3121377	2	4	267	1	0	0	0	0	0	0	0	1	15738	755	27	1		1	TEAD4	12	3121377	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		3121377	130730518	50	19084											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436297	19436297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccctgaaggttatagaaCactcccaagaaacagcaaga	17	6	7	11	0	0	4	0	1	0	3	1	4	1	4	2	1	4	2	2	1	8	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:19436297C>G	ENST00000299275.6	+	11	1385	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.T460R|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.T460R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.T460R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.T352R|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.T460R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.T352R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.T460R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.T218R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.T466R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	460					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTTATAGAACACTCCCAAGA	0.438																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1378-1380)aCa>aGa		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.							63	60	61					12																	19436297		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436297C>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1379C>G	12.37:g.19436297C>G	ENSP00000299275:p.Thr460Arg					PLEKHA5_uc010sie.2_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.3_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.3_Missense_Mutation_p.T218R|PLEKHA5_uc010sig.2_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc021qvy.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	p.T460R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			10	1487	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		460					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1379C>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097869	0.37048	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	4.19	4.19	0.49359	.	0.106582	0.64402	D	0.000008	T	0.39517	0.1081	M	0.79475	2.455	0.41696	D	0.989371	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.992;1.0;0.998;0.999	D;D;D;P;D;D;D	0.85130	0.982;0.982;0.974;0.858;0.997;0.953;0.982	T	0.39057	-0.9632	10	0.54805	T	0.06	-12.1093	17.0912	0.86622	0.0:1.0:0.0:0.0	.	460;352;352;466;466;460;460	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	R	460;460;460;467;460;466;460;218;460;352;352;352	ENSP00000325155:T460R;ENSP00000347560:T460R;ENSP00000352104:T460R;ENSP00000311239:T460R;ENSP00000404296:T466R;ENSP00000299275:T460R;ENSP00000440611:T218R;ENSP00000439673:T460R;ENSP00000400411:T352R;ENSP00000439837:T352R;ENSP00000440371:T352R	ENSP00000299275:T460R	T	+	2	0	PLEKHA5	19327564	1.000000	0.71417	0.896000	0.35187	0.295000	0.27426	5.197000	0.65141	2.321000	0.78463	0.655000	0.94253	ACA		0.438	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		G	19436297	C	G	19436297	3	3	267	1	0	0	0	0	1	0	0	0	12059	478	17	5	1421	5	PLEKHA5	12	19436297	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	16314920	19436297	114415598	51	19085											
CYP27B1	1594	broad.mit.edu	37	chr12	58158677	58158677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctccgttcctcatggctgCctctgcctctcgccgctcca	2	12	7	20	3	3	0	1	0	2	0	8	0	7	0	7	1	2	3	7	1	0	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:58158677C>T	ENST00000228606.4	-	5	1032	c.823G>A	c.(823-825)Gca>Aca	p.A275T	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	275					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CTCATGGCTGCCTCTGCCTCT	0.617																																						uc001spz.1																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(823-825)Gca>Aca		Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						78	74	76					12																	58158677		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158677C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.823G>A	12.37:g.58158677C>T	ENSP00000228606:p.Ala275Thr					CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	p.A275T	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	975	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		275					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.823G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	2.574	-0.299047	0.05532	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.68765	-0.35;-0.35	4.65	1.86	0.25419	.	0.603497	0.16981	N	0.191703	T	0.52581	0.1743	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.39781	-0.9597	10	0.34782	T	0.22	.	8.7651	0.34698	0.0:0.7462:0.0:0.2538	.	275	O15528	CP27B_HUMAN	T	275;40	ENSP00000228606:A275T;ENSP00000449472:A40T	ENSP00000228606:A275T	A	-	1	0	CYP27B1	56444944	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-0.981000	0.03766	0.219000	0.20840	0.561000	0.74099	GCA		0.617	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		T	58158677	C	T	58158677	3	4	267	1	0	0	0	0	1	0	0	0	4159	739	26	3	723	3	CYP27B1	12	58158677	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	38722380	58158677	75693218	52	19086											
ATP8A2	51761	broad.mit.edu	37	chr13	26343355	26343355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaacaactcggattaCgccatcgcacaggtcagcag	12	5	9	15	3	1	0	1	0	0	0	3	1	1	1	3	2	4	2	3	2	3	1	rs374883147		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr13:26343355C>T	ENST00000381655.2	+	26	2698	c.2556C>T	c.(2554-2556)taC>taT	p.Y852Y	ATP8A2_ENST00000255283.8_Silent_p.Y812Y|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	812					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCGGATTACGCCATCGCAC	0.582													C|||	1	0.000199681	0	0	5008	,	,		20486	0		0.001	False		,,,				2504	0					uc001uqk.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2554-2556)taC>taT		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.		C		0,4328		0,0,2164	85	90	88		2556	-1.9	0.8	13		88	1,8511		0,1,4255	no	coding-synonymous	ATP8A2	NM_016529.4		0,1,6419	TT,TC,CC		0.0117,0.0,0.0078		852/1189	26343355	1,12839	2164	4256	6420	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26343355C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2556C>T	13.37:g.26343355C>T						ATP8A2_uc010tdi.2_Silent_p.Y812Y|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Y402Y	p.Y852Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2698	+		Breast(139;0.0201)|Lung SC(185;0.0225)	812					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.2556C>T	CCDS41873.1																																																																																				0.582	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26343355	C	T	26343355	2	4	267	1	0	0	0	0	0	0	0	1	1193	547	19	1		1	ATP8A2	13	26343355	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		26343355	88826523	53	19087											
SFRS5	6430	broad.mit.edu	37	chr14	70234973	70234973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacggataagagatattGatctgaaaagaggctttggt	14	11	13	3	1	1	4	0	2	1	2	1	7	1	6	0	4	0	1	0	4	4	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr14:70234973G>T	ENST00000553521.1	+	3	1553	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	SRSF5_ENST00000394366.2_Missense_Mutation_p.D34Y|SRSF5_ENST00000553635.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000554021.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Missense_Mutation_p.D34Y|SRSF5_ENST00000555349.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000553548.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000557154.1_Missense_Mutation_p.D34Y			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	34	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AAGAGATATTGATCTGAAAAG	0.428																																						uc001xll.3																			0				large_intestine(1)|liver(1)	2						c.(100-102)Gat>Tat		Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.							208	232	224					14																	70234973		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70234973G>T	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.100G>T	14.37:g.70234973G>T	ENSP00000452123:p.Asp34Tyr					SRSF5_uc021rvj.1_Missense_Mutation_p.D34Y|LOC100289511_uc021rvk.1_5'Flank|SRSF5_uc001xln.1_Missense_Mutation_p.D34Y|SRSF5_uc001xlo.3_Missense_Mutation_p.D34Y|SRSF5_uc001xlp.3_Missense_Mutation_p.D34Y	p.D34Y	NM_006925	NP_008856	Q13243	SRSF5_HUMAN			2	1551	+			34			RRM 1.		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.100G>T	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456870	0.26161	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043310	0.85682	D	0.000000	T	0.26122	0.0637	L	0.28740	0.885	0.80722	D	1	D;P;D	0.60575	0.961;0.697;0.988	P;P;P	0.62649	0.905;0.511;0.84	T	0.00978	-1.1493	10	0.05351	T	0.99	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	34;34;34	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	Y	34	ENSP00000452123:D34Y;ENSP00000377892:D34Y;ENSP00000452400:D34Y;ENSP00000452449:D34Y;ENSP00000451088:D34Y;ENSP00000402734:D34Y;ENSP00000451391:D34Y;ENSP00000452090:D34Y;ENSP00000450918:D34Y	ENSP00000377892:D34Y	D	+	1	0	SRSF5	69304726	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.768000	0.74980	2.778000	0.95560	0.655000	0.94253	GAT		0.428	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		T	70234973	G	T	70234973	3	4	267	1	0	0	0	0	1	0	0	0	14180	1290	45	5	102	5	SFRS5	14	70234973	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		70234973	37114567	54	19088											
SEMA6D	80031	broad.mit.edu	37	chr15	48053911	48053911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctggcaagatgcccAtttgatgccagacaaaccaa	13	7	10	11	0	0	3	0	1	0	2	0	3	0	3	4	2	3	1	4	2	3	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:48053911A>G	ENST00000316364.5	+	7	940	c.501A>G	c.(499-501)ccA>ccG	p.P167P	SEMA6D_ENST00000558816.1_Silent_p.P167P|SEMA6D_ENST00000358066.4_Silent_p.P167P|SEMA6D_ENST00000355997.3_Silent_p.P167P|SEMA6D_ENST00000558014.1_Silent_p.P167P|SEMA6D_ENST00000389428.3_Silent_p.P167P|SEMA6D_ENST00000354744.4_Silent_p.P167P|SEMA6D_ENST00000389432.2_Silent_p.P167P|SEMA6D_ENST00000389425.3_Silent_p.P167P|SEMA6D_ENST00000389433.2_Silent_p.P167P|SEMA6D_ENST00000537942.1_Silent_p.P167P|SEMA6D_ENST00000536845.2_Silent_p.P167P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	167	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGATGCCCATTTGATGCCA	0.373																																						uc010bek.3																			0		p.C166Y(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(499-501)ccA>ccG		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.							109	115	113					15																	48053911		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48053911A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.501A>G	15.37:g.48053911A>G						SEMA6D_uc001zvw.3_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.3_Silent_p.P167P|SEMA6D_uc001zvz.3_Silent_p.P167P|SEMA6D_uc001zwa.3_Silent_p.P167P|SEMA6D_uc001zwb.3_Silent_p.P167P|SEMA6D_uc001zwc.3_Silent_p.P167P	p.P167P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	6	861	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	167			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.501A>G	CCDS32225.1																																																																																				0.373	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		G	48053911	A	G	48053911	2	3	267	1	0	0	0	0	0	0	0	1	14042	204	8	4		4	SEMA6D	15	48053911	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08		48053911	54477481	55	19089											
CSNK1G1	53944	broad.mit.edu	37	chr15	64472574	64472574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccactacctccacctcgGcatgagctgtgattggtgca	7	10	9	15	1	0	2	0	2	0	0	3	2	2	2	5	2	3	3	5	2	1	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:64472574G>A	ENST00000303052.7	-	11	1610	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.A433V	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	396					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTCCACCTCGGCATGAGCTGT	0.483																																						uc002anf.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(1186-1188)gCc>gTc		Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.							122	117	118					15																	64472574		2031	4176	6207	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64472574G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1187C>T	15.37:g.64472574G>A	ENSP00000305777:p.Ala396Val					CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	p.A396V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			10	1667	-			396					Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.1187C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267692	0.80469	.	.	ENSG00000169118	ENST00000303052;ENST00000447727	T	0.69561	-0.41	5.73	5.73	0.89815	.	0.218776	0.46758	D	0.000263	T	0.67767	0.2928	L	0.60455	1.87	0.80722	D	1	B;B	0.17852	0.005;0.024	B;B	0.23852	0.014;0.049	T	0.62803	-0.6777	10	0.48119	T	0.1	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	396;396	Q8IXA3;Q9HCP0	.;KC1G1_HUMAN	V	396;352	ENSP00000305777:A396V	ENSP00000305777:A396V	A	-	2	0	CSNK1G1	62259627	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GCC		0.483	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		A	64472574	G	A	64472574	3	1	267	1	0	0	0	0	1	0	0	0	3954	1203	42	3	89	3	CSNK1G1	15	64472574	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	16418663	64472574	38058818	56	19090											
ITGAX	3687	broad.mit.edu	37	chr16	31383748	31383748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgcgtctgaacttcaCgctggtgggcaagcccctcc	6	10	10	15	2	2	1	1	1	1	0	3	1	3	1	4	2	4	2	4	2	3	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:31383748C>T	ENST00000268296.4	+	18	2331	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	ITGAX_ENST00000562522.1_Missense_Mutation_p.T737M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	737					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGAACTTCACGCTGGTGGGC	0.642																																						uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2209-2211)aCg>aTg		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							89	78	81					16																	31383748		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31383748C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2210C>T	16.37:g.31383748C>T	ENSP00000268296:p.Thr737Met					ITGAX_uc002ebu.1_Missense_Mutation_p.T737M	p.T737M	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2277	+			737					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2210C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336451	0.60963	.	.	ENSG00000140678	ENST00000268296	T	0.48836	0.8	4.69	4.69	0.59074	Integrin alpha-2 (1);	.	.	.	.	T	0.57607	0.2065	L	0.43923	1.385	0.31425	N	0.673801	D	0.89917	1.0	P	0.59546	0.859	T	0.62774	-0.6783	9	0.87932	D	0	.	14.984	0.71332	0.0:1.0:0.0:0.0	.	737	P20702	ITAX_HUMAN	M	737	ENSP00000268296:T737M	ENSP00000268296:T737M	T	+	2	0	ITGAX	31291249	0.898000	0.30612	0.807000	0.32361	0.356000	0.29392	0.972000	0.29409	2.571000	0.86741	0.467000	0.42956	ACG		0.642	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31383748	C	T	31383748	3	4	267	1	0	0	0	0	1	0	0	0	7889	536	19	1	2280	1	ITGAX	16	31383748	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		31383748	58971005	57	19091											
SPAG5	10615	broad.mit.edu	37	chr17	26919636	26919636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgtagttgttcagaacagGgatttggtggagactcctct	10	13	12	6	0	2	2	1	0	1	2	3	4	3	3	1	3	1	3	1	3	3	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr17:26919636G>A	ENST00000321765.5	-	3	958	c.626C>T	c.(625-627)cCc>cTc	p.P209L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	209					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGAACAGGGATTTGGTGG	0.483																																						uc002hbq.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(625-627)cCc>cTc		Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.							112	109	110					17																	26919636		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919636G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.626C>T	17.37:g.26919636G>A	ENSP00000323300:p.Pro209Leu					SPAG5_uc010waq.1_Intron	p.P209L	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			2	718	-	Lung NSC(42;0.00431)		209					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.626C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	2.239	-0.374306	0.05034	.	.	ENSG00000076382	ENST00000321765	T	0.25414	1.8	5.33	0.244	0.15507	.	0.789063	0.11149	N	0.594353	T	0.16300	0.0392	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32693	-0.9897	10	0.87932	D	0	1.6708	1.315	0.02105	0.2249:0.16:0.4508:0.1643	.	209	Q96R06	SPAG5_HUMAN	L	209	ENSP00000323300:P209L	ENSP00000323300:P209L	P	-	2	0	SPAG5	23943763	0.006000	0.16342	0.063000	0.19743	0.075000	0.17131	0.479000	0.22228	0.083000	0.17047	0.655000	0.94253	CCC		0.483	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		A	26919636	G	A	26919636	3	1	267	1	0	0	0	0	1	0	0	0	14981	1232	43	3	3043	3	SPAG5	17	26919636	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		26919636	54275574	58	19092											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661947	8661947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggccgctgtggttcaCgatggatttctgccacttac	6	12	11	12	2	2	0	1	0	1	0	2	2	2	1	3	3	2	2	3	3	1	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:8661947C>T	ENST00000597188.1	-	8	1234	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V322M|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	322	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGTTCACGATGGATTTC	0.572																																						uc002mkj.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(964-966)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.							102	89	93					19																	8661947		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661947C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.964G>A	19.37:g.8661947C>T	ENSP00000471851:p.Val322Met					ADAMTS10_uc002mkk.1_5'UTR	p.V322M	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			7	1238	-			322			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.964G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957463	0.73902	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.63417	-0.04	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.175593	0.38663	U	0.001601	T	0.61924	0.2386	N	0.20685	0.6	0.44366	D	0.997266	D	0.61080	0.989	P	0.55667	0.781	T	0.61133	-0.7124	10	0.33141	T	0.24	.	18.1581	0.89700	0.0:1.0:0.0:0.0	.	322	Q9H324	ATS10_HUMAN	M	322;76	ENSP00000270328:V322M	ENSP00000270328:V322M	V	-	1	0	ADAMTS10	8567947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.946000	0.40283	2.519000	0.84933	0.563000	0.77884	GTG		0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8661947	C	T	8661947	3	4	267	1	0	0	0	0	1	0	0	0	256	536	19	1	2423	1	ADAMTS10	19	8661947	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		8661947	50467036	59	19093											
SLC1A6	6511	broad.mit.edu	37	chr19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctggttaccaccctcGtgctgtactgcgtcttgaac	5	13	10	13	2	1	1	0	1	1	0	3	1	2	1	3	2	5	3	3	2	3	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:15073138G>A	ENST00000221742.3	-	5	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T204M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	204					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T204M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TACCACCCTCGTGCTGTACTG	0.532																																						uc002naa.1																			1	Substitution - Missense(1)	p.T204M(2)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(610-612)aCg>aTg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						112	103	106					19																	15073138		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073138G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.611C>T	19.37:g.15073138G>A	ENSP00000221742:p.Thr204Met					SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.3_Missense_Mutation_p.T204M|SLC1A6_uc002nac.3_Missense_Mutation_p.T204M	p.T204M	NM_005071	NP_005062	P48664	EAA4_HUMAN			4	618	-			204					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.611C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	15.97	2.989592	0.53934	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.71698	-0.59;0.46;1.19	4.42	4.42	0.53409	.	0.157903	0.56097	D	0.000039	T	0.80665	0.4666	M	0.62723	1.935	0.45330	D	0.99832	D;D;P	0.76494	0.968;0.999;0.845	P;D;B	0.66716	0.49;0.946;0.34	T	0.82542	-0.0405	10	0.62326	D	0.03	-18.7563	14.6221	0.68594	0.0:0.0:1.0:0.0	.	140;204;204	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	M	140;204;204	ENSP00000409386:T140M;ENSP00000221742:T204M;ENSP00000446175:T204M	ENSP00000221742:T204M	T	-	2	0	SLC1A6	14934138	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	4.482000	0.60257	2.310000	0.77875	0.454000	0.30748	ACG		0.532	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15073138	G	A	15073138	3	1	267	1	0	0	0	0	1	0	0	0	14436	1145	40	1	1103	1	SLC1A6	19	15073138	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	6411191	15073138	44055845	60	19094											
HIF3A	64344	broad.mit.edu	37	chr19	46807322	46807322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccatcagctacctgcGcatgcaccgcctctgcgccg	6	7	8	20	4	3	0	2	0	1	0	3	0	3	0	6	0	5	3	6	0	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:46807322G>A	ENST00000377670.4	+	2	225	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.A63T|HIF3A_ENST00000300862.3_Missense_Mutation_p.R63H|HIF3A_ENST00000472815.1_Missense_Mutation_p.A45T|HIF3A_ENST00000339613.2_Missense_Mutation_p.R9H|HIF3A_ENST00000600383.1_Missense_Mutation_p.A45T|HIF3A_ENST00000244303.6_Missense_Mutation_p.A45T	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	65	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTACCTGCGCATGCACCGC	0.672																																						uc002peh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(193-195)cGc>cAc		Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.							7	9	8					19																	46807322		2176	4250	6426	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807322G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.194G>A	19.37:g.46807322G>A	ENSP00000366898:p.Arg65His					HIF3A_uc002pef.2_Missense_Mutation_p.R65H|HIF3A_uc002peg.4_Missense_Mutation_p.R65H|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.R9H|HIF3A_uc002pej.2_Missense_Mutation_p.A45T|HIF3A_uc010xxy.2_Missense_Mutation_p.A45T|HIF3A_uc002pel.3_Missense_Mutation_p.R63H|HIF3A_uc010xxz.2_Missense_Mutation_p.A63T	p.R65H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	1	225	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	65			Helix-loop-helix motif.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.194G>A	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.526779|5.526779	0.96431|0.96431	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102|ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000472815;ENST00000291300;ENST00000300862	T;T|T;T;T	0.64438|0.62364	-0.07;-0.1|0.03;0.12;0.03	4.68|4.68	4.68|4.68	0.58851|0.58851	.|Helix-loop-helix DNA-binding (3);	.|0.000000	.|0.41712	.|D	.|0.000827	T|T	0.75510|0.75510	0.3859|0.3859	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|D;D;D;D;D	0.59767|0.89917	0.986;0.976;0.957|1.0;1.0;1.0;1.0;1.0	P;B;B|D;D;D;D;D	0.47626|0.91635	0.552;0.349;0.196|0.999;0.997;0.997;0.996;0.999	T|T	0.76942|0.76942	-0.2772|-0.2772	9|10	0.66056|0.59425	D|D	0.02|0.04	.|.	15.4904|15.4904	0.75602|0.75602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	63;45;63|63;9;65;65;65	F5H884;B4DNA2;B4DSD9|Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;.|.;.;HIF3A_HUMAN;.;.	T|H	45;45;45;45;63|65;65;65;65;9;86;9;63	ENSP00000244303:A45T;ENSP00000407771:A63T|ENSP00000366898:R65H;ENSP00000341877:R9H;ENSP00000300862:R63H	ENSP00000244303:A45T|ENSP00000244302:R65H	A|R	+|+	1|2	0|0	HIF3A|HIF3A	51499162|51499162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.461000|6.461000	0.73522|0.73522	2.599000|2.599000	0.87857|0.87857	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.672	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			A	46807322	G	A	46807322	3	1	267	1	0	0	0	0	1	0	0	0	7105	1087	38	1	224	1	HIF3A	19	46807322	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	31734184	46807322	12321661	61	19095											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctgagctccttggcGtttcacctgacaggtgaggt	6	11	13	11	1	2	3	2	3	0	0	3	3	3	3	3	4	1	2	3	4	0	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:52149086G>A	ENST00000360844.6	-	3	690	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	217	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R217C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642																																						uc002pxf.4																			2	Substitution - Missense(2)	p.R217C(3)	lung(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(649-651)Cgc>Tgc		Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.							83	78	80					19																	52149086		2071	4200	6271	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149086G>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.649C>T	19.37:g.52149086G>A	ENSP00000354090:p.Arg217Cys						p.R217C	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	2	769	-		all_neural(266;0.0299)	217			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.649C>T	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636410	0.67130	.	.	ENSG00000254415	ENST00000360844	D	0.86030	-2.06	3.1	-2.51	0.06365	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.859160	0.03111	N	0.162492	T	0.72358	0.3450	N	0.03608	-0.345	0.09310	N	1	D	0.76494	0.999	P	0.51324	0.666	T	0.63466	-0.6631	10	0.72032	D	0.01	.	0.6088	0.00757	0.2484:0.1895:0.3691:0.1931	.	217	Q08ET2	SIG14_HUMAN	C	217	ENSP00000354090:R217C	ENSP00000354090:R217C	R	-	1	0	SIGLEC14	56840898	0.000000	0.05858	0.000000	0.03702	0.768000	0.43524	-0.391000	0.07323	-0.501000	0.06605	0.514000	0.50259	CGC		0.642	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		A	52149086	G	A	52149086	3	1	267	1	0	0	0	0	1	0	0	0	14309	1145	40	1	561	1	SIGLEC14	19	52149086	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	5341764	52149086	6979897	62	19096											
NLRP5	126206	broad.mit.edu	37	chr19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccctcgtcagcaacCggagcttgacacacctgtgc	8	7	9	17	2	2	1	2	1	0	0	3	2	2	2	4	1	5	2	4	1	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2851-2853)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							114	113	113					19																	56552352		2037	4215	6252	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552352C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2851C>T	19.37:g.56552352C>T	ENSP00000375063:p.Arg951Trp					NLRP5_uc002qmi.3_Missense_Mutation_p.R932W	p.R951W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	10	2851	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2851C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566238	0.45694	.	.	ENSG00000171487	ENST00000390649	T	0.64085	-0.08	4.37	2.15	0.27550	.	1.165660	0.06891	N	0.804302	T	0.66925	0.2839	L	0.51914	1.62	0.09310	N	1	D	0.71674	0.998	P	0.55871	0.786	T	0.52041	-0.8628	10	0.87932	D	0	.	5.5434	0.17051	0.1971:0.6962:0.0:0.1067	.	951	P59047	NALP5_HUMAN	W	951	ENSP00000375063:R951W	ENSP00000375063:R951W	R	+	1	2	NLRP5	61244164	0.001000	0.12720	0.006000	0.13384	0.052000	0.14988	0.517000	0.22832	0.518000	0.28383	0.655000	0.94253	CGG		0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56552352	C	T	56552352	3	4	267	1	0	0	0	0	1	0	0	0	10480	643	23	2	2893	2	NLRP5	19	56552352	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4403266	56552352	2576631	63	19097											
SEL1L2	80343	broad.mit.edu	37	chr20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtttccagtttcatgacgGcaaagagcacaggtatgtgg	11	11	12	7	1	1	2	1	1	0	1	2	2	2	2	1	3	1	5	1	3	3	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458																																						uc010gcf.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1894-1896)gCc>gTc		Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.							113	110	111					20																	13830889		1988	4163	6151	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830889G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1895C>T	20.37:g.13830889G>A	ENSP00000284951:p.Ala632Val					SEL1L2_uc002woq.4_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.2_Missense_Mutation_p.A519V|SEL1L2_uc002wor.3_Non-coding_Transcript	p.A632V	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			18	1977	-			632					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1895C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	SEL1L2	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13830889	G	A	13830889	3	1	267	1	0	0	0	0	1	0	0	0	14011	1203	42	3	179	3	SEL1L2	20	13830889	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		13830889	49194631	64	19098											
TSHZ2	128553	broad.mit.edu	37	chr20	51870967	51870967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccggctaagaaacgcGtttttgatgtcaatcggccg	9	10	10	12	5	2	2	2	1	0	1	3	2	2	2	3	2	1	2	3	2	3	3	rs138844500		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:51870967G>A	ENST00000371497.5	+	2	1857	c.970G>A	c.(970-972)Gtt>Att	p.V324I	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V321I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V321I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	324					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V324F(1)|p.V324I(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGAAACGCGTTTTTGATGT	0.458													G|||	1	0.000199681	0	0	5008	,	,		21871	0		0.001	False		,,,				2504	0					uc002xwo.3																			2	Substitution - Missense(2)	p.V324F(2)|p.V324I(2)|p.R323L(1)	large_intestine(1)|lung(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(970-972)Gtt>Att		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	77	84	81		961,970	4.8	0.2	20	dbSNP_134	81	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging,possibly-damaging	321/1032,324/1035	51870967	5,13001	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870967G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.970G>A	20.37:g.51870967G>A	ENSP00000360552:p.Val324Ile					TSHZ2_uc021wex.1_Missense_Mutation_p.V321I	p.V324I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1857	+			324					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.970G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.55	2.271790	0.40194	0.0	5.81E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14391	2.51;2.51	5.8	4.85	0.62838	.	0.112140	0.64402	D	0.000010	T	0.11793	0.0287	L	0.34521	1.04	0.47659	D	0.999482	D	0.58268	0.982	B	0.39935	0.314	T	0.04029	-1.0983	10	0.44086	T	0.13	-0.5563	15.1363	0.72569	0.0679:0.0:0.9321:0.0	.	324	Q9NRE2	TSH2_HUMAN	I	324;321	ENSP00000360552:V324I;ENSP00000333114:V321I	ENSP00000333114:V321I	V	+	1	0	TSHZ2	51304374	1.000000	0.71417	0.214000	0.23707	0.558000	0.35554	4.532000	0.60608	1.451000	0.47736	0.643000	0.83706	GTT		0.458	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51870967	G	A	51870967	3	1	267	1	0	0	0	0	1	0	0	0	16621	1145	40	1	976	1	TSHZ2	20	51870967	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	38040078	51870967	11154553	65	19099											
SIM2	6493	broad.mit.edu	37	chr21	38092132	38092132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggcaggtggagctcaCgggcaacagtatttatgaat	11	9	12	9	2	1	1	1	1	0	0	2	2	2	2	1	4	2	4	1	4	4	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr21:38092132C>T	ENST00000290399.6	+	4	972	c.359C>T	c.(358-360)aCg>aTg	p.T120M	SIM2_ENST00000430056.3_Missense_Mutation_p.T120M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	120	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGAGCTCACGGGCAACAGT	0.602																																						uc002yvr.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(358-360)aCg>aTg		Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.							72	66	68					21																	38092132		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38092132C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.359C>T	21.37:g.38092132C>T	ENSP00000290399:p.Thr120Met					SIM2_uc002yvq.3_Missense_Mutation_p.T120M	p.T120M	NM_005069	NP_005060	Q14190	SIM2_HUMAN			3	415	+			120			PAS 1.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.359C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840102	0.91117	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.17213	2.29;2.29	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.13980	-1.0489	10	0.87932	D	0	.	19.3811	0.94536	0.0:1.0:0.0:0.0	.	120;120	Q14190;Q14190-2	SIM2_HUMAN;.	M	120	ENSP00000290399:T120M;ENSP00000404176:T120M	ENSP00000290399:T120M	T	+	2	0	SIM2	37014002	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.229000	0.78088	2.591000	0.87537	0.655000	0.94253	ACG		0.602	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		T	38092132	C	T	38092132	3	4	267	1	0	0	0	0	1	0	0	0	14324	536	19	1	373	1	SIM2	21	38092132	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		38092132	10037763	66	19100											
GCAT	23464	broad.mit.edu	37	chr22	38211153	38211153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatcggctgcgcctggtGgccactgatggggccttttc	5	10	14	12	2	0	1	0	1	0	0	2	1	0	1	3	5	2	2	3	5	1	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr22:38211153G>A	ENST00000248924.6	+	5	653	c.597G>A	c.(595-597)gtG>gtA	p.V199V	GCAT_ENST00000323205.6_Silent_p.V225V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	199					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGCGCCTGGTGGCCACTGATG	0.577																																						uc003aua.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(673-675)gtG>gtA		Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						48	45	46					22																	38211153		2203	4300	6503	SO:0001819	synonymous_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211153G>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.597G>A	22.37:g.38211153G>A						GCAT_uc003atz.3_Silent_p.V199V	p.V225V	NM_001171690	NP_001165161	O75600	KBL_HUMAN			4	738	+	Melanoma(58;0.045)		199					E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	c.675G>A	CCDS13957.1																																																																																				0.577	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		A	38211153	G	A	38211153	2	1	267	1	0	0	0	0	0	0	0	1	6284	1335	47	3		3	GCAT	22	38211153	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08		38211153	13093413	67	19101											
LUZP4	51213	broad.mit.edu	37	chrX	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcactcagagagatctcGtggccactgagagagatctc	11	9	11	10	1	4	4	2	1	2	4	6	7	4	4	1	1	0	0	1	1	1	1	rs201126715		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chrX:114541268G>A	ENST00000371920.3	+	4	848	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	281						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428																																						uc004eqa.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(841-843)Gtg>Atg		Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.							85	76	79					X																	114541268		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541268G>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.841G>A	X.37:g.114541268G>A	ENSP00000360988:p.Val281Met					LUZP4_uc004eqb.3_Missense_Mutation_p.V199M	p.V281M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			3	875	+			281					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.841G>A	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	a	5.700	0.313756	0.10789	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.58	-7.16	0.01516	.	0.642575	0.13045	N	0.418237	T	0.52581	0.1743	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	10	0.41790	T	0.15	.	11.3354	0.49500	0.28:0.1155:0.6045:0.0	.	199;281	B3KSD6;Q9P127	.;LUZP4_HUMAN	M	199;281	ENSP00000411212:V199M;ENSP00000360988:V281M	ENSP00000360988:V281M	V	+	1	0	LUZP4	114447524	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.794000	0.04584	-2.420000	0.00564	-0.976000	0.02587	GTG		0.428	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		A	114541268	G	A	114541268	3	1	267	1	0	0	0	0	1	0	0	0	9088	1145	40	1	855	1	LUZP4	23	114541268	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		114541268	40729292	68	19102											
SLC45A1	50651	broad.mit.edu	37	chr1	8395553	8395553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgagctgacgggctccagCgagcgcgcggagcagcctct	7	4	16	14	6	1	1	0	1	1	0	2	4	2	2	2	2	6	3	2	2	0	0			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:8395553C>T	ENST00000471889.1	+	6	1885	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.S534S|SLC45A1_ENST00000289877.8_Silent_p.S500S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	500					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCCAGCGAGCGCGCGG	0.647																																						uc001apb.3																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1498-1500)agC>agT		Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.							56	65	62					1																	8395553		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8395553C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1500C>T	1.37:g.8395553C>T						SLC45A1_uc001apc.3_Silent_p.S198S	p.S500S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1500	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	500					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1500C>T	CCDS30577.1																																																																																				0.647	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8395553	C	T	8395553	2	4	268	1	0	0	0	0	0	0	0	1	14640	767	27	1		1	SLC45A1	1	8395553	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		8395553	240855068	1	19103											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094323	77094323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacagaagggtatagaaaAgtcccctaccattattatga	16	9	9	7	0	0	3	0	1	0	2	1	4	1	4	3	2	1	1	3	2	8	5			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:77094323A>T	ENST00000328299.3	+	5	898	c.750A>T	c.(748-750)aaA>aaT	p.K250N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	250					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTATAGAAAAGTCCCCTACC	0.363																																						uc001dhh.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(748-750)aaA>aaT		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.							65	65	65					1																	77094323		2203	4298	6501	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094323A>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.750A>T	1.37:g.77094323A>T	ENSP00000329214:p.Lys250Asn					ST6GALNAC3_uc010orh.1_Missense_Mutation_p.K149N	p.K250N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			4	913	+			250					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.750A>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	a	14.25	2.479260	0.44044	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.31510	1.49	5.52	5.52	0.82312	.	0.047003	0.85682	D	0.000000	T	0.23370	0.0565	L	0.46885	1.475	0.49798	D	0.999826	B;P	0.42993	0.415;0.797	B;P	0.49999	0.147;0.628	T	0.02758	-1.1114	10	0.25751	T	0.34	-41.5643	11.1004	0.48170	0.9279:0.0:0.0721:0.0	.	149;250	B4DM98;Q8NDV1	.;SIA7C_HUMAN	N	250;249;148	ENSP00000329214:K250N	ENSP00000329214:K250N	K	+	3	2	ST6GALNAC3	76866911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.483000	0.45233	2.229000	0.72834	0.524000	0.50904	AAA		0.363	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		T	77094323	A	T	77094323	3	4	268	1	0	0	0	0	1	0	0	0	15224	69	3	5	782	5	ST6GALNAC3	1	77094323	Missense_Mutation	SNP	A	TCGA-76-6193-01A-11D-1696-08	68698770	77094323	172156298	2	19104											
HCN3	57657	broad.mit.edu	37	chr1	155254428	155254428	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacctgtaggcatgccCgacgtctggctcaccatgct	7	8	11	15	2	2	0	1	0	1	0	2	1	2	0	3	3	2	5	3	3	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:155254428C>G	ENST00000368358.3	+	4	977	c.969C>G	c.(967-969)ccC>ccG	p.P323P	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	323					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCATGCCCGACGTCTGGC	0.597																																						uc001fjz.1																			0		p.P323L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(967-969)ccC>ccG		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.							104	77	86					1																	155254428		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155254428C>G	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.969C>G	1.37:g.155254428C>G						HCN3_uc010pfz.1_Intron	p.P323P	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	977	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		323					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.969C>G	CCDS1108.1																																																																																				0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		G	155254428	C	G	155254428	2	3	268	1	0	0	0	0	0	0	0	1	6998	639	23	5		5	HCN3	1	155254428	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	78160105	155254428	93996193	3	19105											
CD1B	910	broad.mit.edu	37	chr1	158300836	158300836	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggataacatgaaaggaGgtcggcccctggaaggctgt	10	8	15	8	1	1	1	0	1	1	0	2	4	1	4	2	6	1	1	2	6	3	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:158300836G>A	ENST00000368168.3	-	2	185	c.78C>T	c.(76-78)acC>acT	p.T26T		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	26					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CATGAAAGGAGGTCGGCCCCT	0.458																																						uc001frx.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(76-78)acC>acT		Homo sapiens CD1b molecule (CD1B), mRNA.							197	192	194					1																	158300836		2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300836G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.78C>T	1.37:g.158300836G>A						CD1B_uc001frw.3_Silent_p.T26T|CD1B_uc010pic.1_Silent_p.T26T	p.T26T	NM_001764	NP_001755	P29016	CD1B_HUMAN			1	186	-	all_hematologic(112;0.0378)		26					Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.78C>T	CCDS1176.1																																																																																				0.458	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		A	158300836	G	A	158300836	2	1	268	1	0	0	0	0	0	0	0	1	2975	987	35	3		3	CD1B	1	158300836	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08	3046408	158300836	90949785	4	19106											
VSIG8	391123	broad.mit.edu	37	chr1	159827989	159827989	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggttgatggaggcatcGtactggcttgggtctgaggc	7	11	17	6	1	1	3	0	3	1	0	2	4	1	4	0	6	1	4	0	6	1	3	rs138280068	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:159827989G>C	ENST00000368100.1	-	3	456	c.321C>G	c.(319-321)taC>taG	p.Y107*	C1orf204_ENST00000368102.1_5'Flank|RP11-190A12.7_ENST00000544342.1_3'UTR	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	107	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TGGAGGCATCGTACTGGCTTG	0.542																																						uc001fuh.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(319-321)taC>taG		Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.							110	98	102					1																	159827989		2203	4300	6503	SO:0001587	stop_gained	391123					integral to membrane		g.chr1:159827989G>C		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.321C>G	1.37:g.159827989G>C	ENSP00000357080:p.Tyr107*					VSIG8_uc001fug.1_5'Flank	p.Y107*	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			2	457	-	all_hematologic(112;0.0597)		107			Ig-like V-type 1.		Q5VU14	Nonsense_Mutation	SNP	ENST00000368100.1	37	c.321C>G	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598688	0.66332	.	.	ENSG00000243284	ENST00000368100	.	.	.	5.26	-9.16	0.00694	.	0.278615	0.36482	N	0.002578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.861	0.52465	0.7337:0.1018:0.1645:0.0	.	.	.	.	X	107	.	ENSP00000357080:Y107X	Y	-	3	2	VSIG8	158094613	0.002000	0.14202	0.618000	0.29105	0.988000	0.76386	-2.573000	0.00912	-1.608000	0.01587	0.462000	0.41574	TAC		0.542	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		C	159827989	G	C	159827989	4	2	268	1	0	0	0	0	0	1	0	0	17223	1140	40	5	943	5	VSIG8	1	159827989	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	1527153	159827989	89422632	5	19107											
ITLN2	142683	broad.mit.edu	37	chr1	160920979	160920979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccacgcatgtcattctCgtgcacgctggccaccaggg	6	9	10	16	3	2	0	1	0	1	0	4	0	3	0	3	2	1	3	3	2	0	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:160920979C>T	ENST00000368029.3	-	4	352	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ITLN2_ENST00000494442.1_5'Flank|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	99	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTCATTCTCGTGCACGCTG	0.582																																						uc001fxd.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(295-297)Gag>Aag		Homo sapiens intelectin 2 (ITLN2), mRNA.							112	97	102					1																	160920979		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920979C>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"Fibrinogen C domain containing"	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.295G>A	1.37:g.160920979C>T	ENSP00000357008:p.Glu99Lys					ITLN2_uc009wts.3_Missense_Mutation_p.E98K|ITLN2_uc010pju.2_Missense_Mutation_p.E16K	p.E99K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	353	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		99			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.295G>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315864	0.60524	.	.	ENSG00000158764	ENST00000368029	T	0.24538	1.85	3.85	3.85	0.44370	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.50627	U	0.000104	T	0.47229	0.1434	M	0.86953	2.85	0.39472	D	0.967731	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57539	-0.7794	10	0.72032	D	0.01	-15.4755	13.6384	0.62235	0.0:1.0:0.0:0.0	.	98;99	A6NI51;Q8WWU7	.;ITLN2_HUMAN	K	99	ENSP00000357008:E99K	ENSP00000357008:E99K	E	-	1	0	ITLN2	159187603	0.997000	0.39634	0.482000	0.27366	0.102000	0.19082	3.792000	0.55476	2.119000	0.64992	0.561000	0.74099	GAG		0.582	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		T	160920979	C	T	160920979	3	4	268	1	0	0	0	0	1	0	0	0	7911	893	31	2	702	2	ITLN2	1	160920979	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	1092990	160920979	88329642	6	19108											
LAMC2	3918	broad.mit.edu	37	chr1	183207550	183207550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagcatccttaaaaacCtcagaggttagtacttcatg	13	12	8	8	0	2	2	2	1	0	2	3	3	3	2	2	1	3	3	2	1	5	5			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:183207550C>T	ENST00000264144.4	+	19	2928	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	LAMC2_ENST00000493293.1_Missense_Mutation_p.L955F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	955	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCTTAAAAACCTCAGAGGTTA	0.413																																						uc001gqa.2																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2863-2865)Ctc>Ttc		Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.							117	112	113					1																	183207550		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183207550C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2863C>T	1.37:g.183207550C>T	ENSP00000264144:p.Leu955Phe					LAMC2_uc001gpz.4_Missense_Mutation_p.L955F|LAMC2_uc010poa.2_Missense_Mutation_p.L655F	p.L955F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			18	3177	+			955			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2863C>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929785	0.73327	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.51071	0.98;0.72	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000005	T	0.69233	0.3088	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.73448	-0.3979	10	0.87932	D	0	.	11.7135	0.51639	0.0:0.9182:0.0:0.0818	.	955;955;955	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	F	955	ENSP00000432063:L955F;ENSP00000264144:L955F	ENSP00000264144:L955F	L	+	1	0	LAMC2	181474173	0.997000	0.39634	0.994000	0.49952	0.861000	0.49209	3.614000	0.54160	2.558000	0.86282	0.655000	0.94253	CTC		0.413	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		T	183207550	C	T	183207550	3	4	268	1	0	0	0	0	1	0	0	0	8615	681	24	3	2937	3	LAMC2	1	183207550	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	22286571	183207550	66043071	7	19109											
KLF11	8462	broad.mit.edu	37	chr2	10188462	10188462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgttcgtgggacctgCtgtgcctcagggagctgtga	5	11	15	10	1	1	1	1	1	0	0	2	3	1	3	3	2	3	3	3	2	0	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:10188462C>T	ENST00000305883.1	+	3	1160	c.998C>T	c.(997-999)gCt>gTt	p.A333V	KLF11_ENST00000540845.1_Missense_Mutation_p.A316V|KLF11_ENST00000535335.1_Missense_Mutation_p.A316V	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	333					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGGGACCTGCTGTGCCTCAG	0.622											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	uc002raf.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(997-999)gCt>gTt		Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.							76	71	73					2																	10188462		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188462C>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.998C>T	2.37:g.10188462C>T	ENSP00000307023:p.Ala333Val		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_uc021vdq.1_Missense_Mutation_p.A316V|KLF11_uc010yjc.2_Missense_Mutation_p.A316V	p.A333V	NM_003597	NP_001171189	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	2	1160	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		333					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.998C>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043335	0.36085	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.15139	2.47;2.45;2.45	5.34	5.34	0.76211	.	0.377429	0.32002	N	0.006736	T	0.12220	0.0297	N	0.14661	0.345	0.20926	N	0.99982	B	0.14805	0.011	B	0.15870	0.014	T	0.17289	-1.0374	9	.	.	.	.	19.03	0.92952	0.0:1.0:0.0:0.0	.	333	O14901	KLF11_HUMAN	V	333;316;316	ENSP00000307023:A333V;ENSP00000444690:A316V;ENSP00000442722:A316V	.	A	+	2	0	KLF11	10105913	0.121000	0.22262	0.250000	0.24296	0.089000	0.18198	3.915000	0.56409	2.494000	0.84150	0.407000	0.27541	GCT		0.622	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		T	10188462	C	T	10188462	3	4	268	1	0	0	0	0	1	0	0	0	8339	797	28	3	1008	3	KLF11	2	10188462	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		10188462	233010911	8	19110											
ACTG2	72	broad.mit.edu	37	chr2	74140711	74140711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggacttggctggccGtgacctcacggactacctca	6	8	12	15	3	2	1	2	1	0	0	2	3	2	3	4	4	1	1	4	4	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:74140711G>A	ENST00000409624.1	+	7	1194	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ACTG2_ENST00000345517.3_Missense_Mutation_p.R184H|ACTG2_ENST00000409731.3_Missense_Mutation_p.R141H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	184					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TTGGCTGGCCGTGACCTCACG	0.552																																						uc002sjw.3																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(550-552)cGt>cAt		Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.							145	126	133					2																	74140711		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74140711G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.551G>A	2.37:g.74140711G>A	ENSP00000386857:p.Arg184His					ACTG2_uc010yrn.2_Missense_Mutation_p.R141H|ACTG2_uc010fey.3_Missense_Mutation_p.R184H	p.R184H	NM_001615	NP_001606	P63267	ACTH_HUMAN			5	673	+			184					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.551G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322086	0.81580	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.94758	-3.51;-3.51;-3.51	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	H	0.96460	3.825	0.49582	D	0.999807	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	D	0.99160	1.0861	10	0.87932	D	0	.	17.4481	0.87584	0.0:0.0:1.0:0.0	.	141;184	E9PG30;P63267	.;ACTH_HUMAN	H	141;184;184	ENSP00000386929:R141H;ENSP00000295137:R184H;ENSP00000386857:R184H	ENSP00000295137:R184H	R	+	2	0	ACTG2	73994219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.733000	0.93635	0.557000	0.71058	CGT		0.552	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		A	74140711	G	A	74140711	3	1	268	1	0	0	0	0	1	0	0	0	197	1145	40	1	569	1	ACTG2	2	74140711	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	63952249	74140711	169058662	9	19111											
VIL1	7429	broad.mit.edu	37	chr2	219301877	219301877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattgggaaacatgccaacGaggaggagaagaaggccgca	15	3	16	7	2	0	2	0	0	0	2	0	7	0	5	2	5	3	1	2	5	4	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:219301877G>A	ENST00000248444.5	+	17	2090	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	VIL1_ENST00000392114.2_Missense_Mutation_p.E357K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	668	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCAACGAGGAGGAGAA	0.577																																						uc002vib.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2002-2004)Gag>Aag		Homo sapiens villin 1 (VIL1), mRNA.							117	115	116					2																	219301877		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301877G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2002G>A	2.37:g.219301877G>A	ENSP00000248444:p.Glu668Lys					VIL1_uc010zke.2_Missense_Mutation_p.E357K|VIL1_uc002via.3_Missense_Mutation_p.E668K	p.E668K	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2024	+		Renal(207;0.0474)	668			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2002G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996640	0.35226	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.55588	0.51;0.51	4.86	4.86	0.63082	Gelsolin domain (1);	0.064498	0.64402	D	0.000011	T	0.41190	0.1148	N	0.25201	0.72	0.80722	D	1	B	0.26445	0.149	B	0.21917	0.037	T	0.21280	-1.0250	10	0.33141	T	0.24	-45.6958	18.5502	0.91062	0.0:0.0:1.0:0.0	.	668	P09327	VILI_HUMAN	K	668;357	ENSP00000248444:E668K;ENSP00000375962:E357K	ENSP00000248444:E668K	E	+	1	0	VIL1	219010121	1.000000	0.71417	0.926000	0.36857	0.650000	0.38633	3.913000	0.56394	2.699000	0.92147	0.655000	0.94253	GAG		0.577	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		A	219301877	G	A	219301877	3	1	268	1	0	0	0	0	1	0	0	0	17161	1059	37	2	2064	2	VIL1	2	219301877	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	145161166	219301877	23897496	10	19112											
RPL14	9045	broad.mit.edu	37	chr3	40499407	40499407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcgcttcgtggaggttggCcgggtggcctatgtctcctt	3	12	16	10	3	1	0	0	0	1	0	3	1	1	1	3	6	0	2	3	6	1	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:40499407C>T	ENST00000396203.2	+	2	162	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RPL14_ENST00000416518.1_Silent_p.G10G|RPL14_ENST00000338970.6_Silent_p.G10G	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGGTTGGCCGGGTGGCCT	0.443																																						uc003ckg.3																			0											c.(28-30)ggC>ggT		Homo sapiens ribosomal protein L14 (RPL14), transcript variant 2, mRNA.							120	106	111					3																	40499407		2203	4300	6503	SO:0001819	synonymous_variant	9045				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:40499407C>T	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.30C>T	3.37:g.40499407C>T						RPL14_uc003ckh.3_Silent_p.G10G	p.G10G	NM_003973	NP_003964	P50914	RL14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	81	+			10					Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Silent	SNP	ENST00000396203.2	37	c.30C>T	CCDS43070.1																																																																																				0.443	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973		T	40499407	C	T	40499407	2	4	268	1	0	0	0	0	0	0	0	1	13561	726	26	3		3	RPL14	3	40499407	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		40499407	157523023	11	19113											
CDCP1	64866	broad.mit.edu	37	chr3	45127459	45127459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacacatgggagtcattgtCctttcgccctttctgaaact	9	14	7	11	1	2	1	1	1	1	0	4	2	3	2	2	1	2	0	2	1	2	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:45127459C>T	ENST00000296129.1	-	9	2316	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	728						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGTCATTGTCCTTTCGCCCT	0.502																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2182-2184)Gac>Aac		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							218	211	213					3																	45127459		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127459C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2182G>A	3.37:g.45127459C>T	ENSP00000296129:p.Asp728Asn						p.D728N	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	8	2317	-			728					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2182G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576847	0.45902	.	.	ENSG00000163814	ENST00000296129	T	0.28666	1.6	5.82	5.82	0.92795	.	0.234229	0.49916	D	0.000121	T	0.30386	0.0763	M	0.69823	2.125	0.80722	D	1	P	0.35155	0.487	B	0.34779	0.189	T	0.11641	-1.0579	10	0.34782	T	0.22	.	6.8257	0.23883	0.0:0.7135:0.1761:0.1104	.	728	Q9H5V8	CDCP1_HUMAN	N	728	ENSP00000296129:D728N	ENSP00000296129:D728N	D	-	1	0	CDCP1	45102463	1.000000	0.71417	0.992000	0.48379	0.511000	0.34104	2.360000	0.44151	2.756000	0.94617	0.563000	0.77884	GAC		0.502	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		T	45127459	C	T	45127459	3	4	268	1	0	0	0	0	1	0	0	0	3093	855	30	3	332	3	CDCP1	3	45127459	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	4628052	45127459	152894971	12	19114											
SLC15A2	6565	broad.mit.edu	37	chr3	121641692	121641692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcactggctagactgggCggctgagaaatatccagtaa	13	7	12	9	1	0	2	0	1	0	2	1	3	1	2	1	3	1	4	1	3	4	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121641692C>T	ENST00000489711.1	+	9	1239	c.851C>T	c.(850-852)gCg>gTg	p.A284V	SLC15A2_ENST00000295605.2_Missense_Mutation_p.A253V|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	284					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTAGACTGGGCGGCTGAGAAA	0.433																																						uc003eep.2																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(850-852)gCg>gTg		Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	Cefadroxil(DB01140)						54	53	54					3																	121641692		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121641692C>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.851C>T	3.37:g.121641692C>T	ENSP00000417085:p.Ala284Val					SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	p.A284V	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	8	1004	+			284					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.851C>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692010	0.88735	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.04083	3.71;3.71	5.78	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);	0.153445	0.64402	D	0.000019	T	0.28067	0.0692	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.21008	-1.0258	10	0.87932	D	0	-12.7339	13.8706	0.63617	0.1536:0.8464:0.0:0.0	.	253;284	B4E2A7;Q16348	.;S15A2_HUMAN	V	284;246;253	ENSP00000417085:A284V;ENSP00000295605:A253V	ENSP00000295605:A253V	A	+	2	0	SLC15A2	123124382	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.751000	0.68720	1.413000	0.46997	0.650000	0.86243	GCG		0.433	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		T	121641692	C	T	121641692	3	4	268	1	0	0	0	0	1	0	0	0	14399	768	27	1	885	1	SLC15A2	3	121641692	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	76514233	121641692	76380738	13	19115											
ILDR1	286676	broad.mit.edu	37	chr3	121712145	121712145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggctgcctctccttgTcctcttcagagctccaggaa	5	12	10	14	0	4	1	1	0	3	1	7	2	6	2	4	3	2	2	4	3	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121712145T>G	ENST00000344209.5	-	7	1577	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A	ILDR1_ENST00000393631.1_Missense_Mutation_p.D395A|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.D440A|ILDR1_ENST00000462014.1_Missense_Mutation_p.D452A	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	484					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTCTCCTTGTCCTCTTCAGA	0.677																																						uc003ees.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1450-1452)gAc>gCc		Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.							20	23	22					3																	121712145		2202	4300	6502	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712145T>G	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1451A>C	3.37:g.121712145T>G	ENSP00000345667:p.Asp484Ala					ILDR1_uc003eeq.3_Missense_Mutation_p.D452A|ILDR1_uc003eer.3_Missense_Mutation_p.D440A|ILDR1_uc010hrg.3_Missense_Mutation_p.D395A	p.D484A	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	6	1654	-			484					Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.1451A>C	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500851	0.44455	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.77750	-0.47;-0.51;-1.12;-0.07	5.76	4.61	0.57282	.	0.226724	0.52532	D	0.000074	T	0.66906	0.2837	L	0.36672	1.1	0.24630	N	0.993621	B;B;B;B	0.15473	0.004;0.002;0.004;0.013	B;B;B;B	0.21917	0.022;0.01;0.022;0.037	T	0.53229	-0.8468	10	0.23891	T	0.37	-9.924	9.7248	0.40324	0.0:0.0816:0.0:0.9184	.	395;484;440;452	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	A	440;484;395;452	ENSP00000273691:D440A;ENSP00000345667:D484A;ENSP00000377251:D395A;ENSP00000419414:D452A	ENSP00000273691:D440A	D	-	2	0	ILDR1	123194835	0.980000	0.34600	0.384000	0.26145	0.902000	0.53008	1.913000	0.39956	1.019000	0.39547	0.460000	0.39030	GAC		0.677	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		G	121712145	T	G	121712145	3	3	268	1	0	0	0	0	1	0	0	0	7709	1667	58	5	197	5	ILDR1	3	121712145	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	70453	121712145	76310285	14	19116											
PIK3CA	5290	broad.mit.edu	37	chr3	178938803	178938803	+	Frame_Shift_Del	DEL	A	A	-																															gcacaataaaacagttagccAgaggtttggcctgcttttgg																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:178938803delA	ENST00000263967.3	+	14	2202	c.2045delA	c.(2044-2046)cagfs	p.Q682fs		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	682	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACAGTTAGCCAGAGGTTTGGC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2044-2046)cagfs		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							74	62	66					3																	178938803		1840	4077	5917	SO:0001589	frameshift_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178938803delA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2045delA	3.37:g.178938803delA	ENSP00000263967:p.Gln682fs	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q682fs	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		13	2202	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		682			PI3K helical.		Q14CW1|Q99762	Frame_Shift_Del	DEL	ENST00000263967.3	37	c.2045delA	CCDS43171.1																																																																																				0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			-	178938803	A	-	178938803	7	5	268	1	0	1	0	1	0	0	0	0	11913	188	7	0	2095	0	PIK3CA	3	178938803	Frame_Shift_Del	DEL	A	TCGA-76-6193-01A-11D-1696-08	57226658	178938803	19083627	15	19117											
N4BP2	55728	broad.mit.edu	37	chr4	40127847	40127847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaagactttaacagcatCtgaaatgctacctttattgg	13	13	7	8	0	1	3	0	2	1	1	1	3	1	3	1	1	4	2	1	1	5	6			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:40127847C>T	ENST00000261435.6	+	12	4840	c.4424C>T	c.(4423-4425)tCt>tTt	p.S1475F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1475					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAACAGCATCTGAAATGCTA	0.338																																						uc003guy.4																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4423-4425)tCt>tTt		Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.							94	98	97					4																	40127847		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40127847C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4424C>T	4.37:g.40127847C>T	ENSP00000261435:p.Ser1475Phe					N4BP2_uc010ifq.3_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.3_Missense_Mutation_p.S1395F	p.S1475F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			11	4762	+			1475					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4424C>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	7.176	0.588536	0.13812	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.20200	2.09	5.86	5.01	0.66863	.	0.928935	0.09135	N	0.843812	T	0.20047	0.0482	L	0.29908	0.895	0.21822	N	0.999524	B;B	0.26195	0.144;0.089	B;B	0.31442	0.13;0.061	T	0.28170	-1.0052	10	0.10636	T	0.68	0.2758	16.321	0.82951	0.1336:0.8664:0.0:0.0	.	1475;1475	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	F	1475;1395	ENSP00000261435:S1475F	ENSP00000261435:S1475F	S	+	2	0	N4BP2	39804242	0.908000	0.30866	0.476000	0.27291	0.003000	0.03518	2.371000	0.44248	1.603000	0.50134	-0.188000	0.12872	TCT		0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		T	40127847	C	T	40127847	3	4	268	1	0	0	0	0	1	0	0	0	10110	913	32	3	4462	3	N4BP2	4	40127847	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		40127847	151026429	16	19118											
NAA11	84779	broad.mit.edu	37	chr4	80246554	80246554	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcaggtccatttgtcGtctcagctcatctgccatct	5	16	6	14	1	6	0	3	0	4	0	9	0	7	0	2	1	2	1	2	1	0	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:80246554G>A	ENST00000286794.4	-	1	650	c.478C>T	c.(478-480)Cga>Tga	p.R160*	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	160					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTGTCGTCTCAGCTCA	0.517																																						uc003hlt.4																			0		p.R159K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(478-480)Cga>Tga		Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.							61	62	62					4																	80246554		2025	4207	6232	SO:0001587	stop_gained	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246554G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.478C>T	4.37:g.80246554G>A	ENSP00000286794:p.Arg160*					NAA11_uc021xpl.1_Nonsense_Mutation_p.R160*	p.R160*	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			0	618	-			160					Q66K19|Q6P479	Nonsense_Mutation	SNP	ENST00000286794.4	37	c.478C>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539616	0.96474	.	.	ENSG00000156269	ENST00000286794	.	.	.	5.08	0.76	0.18442	.	0.318423	0.26143	U	0.026088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8424	13.4071	0.60919	0.0:0.0:0.3191:0.6809	.	.	.	.	X	160	.	ENSP00000286794:R160X	R	-	1	2	NAA11	80465578	0.006000	0.16342	0.278000	0.24718	0.673000	0.39480	0.054000	0.14205	0.293000	0.22520	0.591000	0.81541	CGA		0.517	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			A	80246554	G	A	80246554	4	1	268	1	0	0	0	0	0	1	0	0	10117	1153	40	1	215	1	NAA11	4	80246554	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	40118707	80246554	110907722	17	19119											
ANKRD50	57182	broad.mit.edu	37	chr4	125591834	125591834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctagcaccttgttcaatAagtgcttcacatatcaatct	11	15	5	10	0	5	0	3	0	2	0	5	0	5	0	1	0	2	4	1	0	5	7			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:125591834A>G	ENST00000504087.1	-	4	3635	c.2598T>C	c.(2596-2598)ctT>ctC	p.L866L	ANKRD50_ENST00000515641.1_Silent_p.L687L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	866										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTGTTCAATAAGTGCTTCAC	0.393																																						uc010inw.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(2596-2598)ctT>ctC		Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.							166	160	162					4																	125591834		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125591834A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2598T>C	4.37:g.125591834A>G						ANKRD50_uc011cgo.2_Silent_p.L687L	p.L866L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN			3	3636	-			866					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.2598T>C	CCDS34060.1																																																																																				0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125591834	A	G	125591834	2	3	268	1	0	0	0	0	0	0	0	1	677	349	13	4		4	ANKRD50	4	125591834	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	45345280	125591834	65562442	18	19120											
NEIL3	55247	broad.mit.edu	37	chr4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagaagacaacaaacgaTataactcaaccatccagcaa	20	5	4	12	1	1	2	1	0	0	2	3	3	3	2	3	0	5	1	3	0	8	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:178274739T>G	ENST00000264596.3	+	8	1435	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	439					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1315-1317)gaT>gaG	Base excision repair (BER), DNA glycosylases	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.							91	87	88					4																	178274739		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274739T>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1317T>G	4.37:g.178274739T>G	ENSP00000264596:p.Asp439Glu					NEIL3_uc010irs.3_3'UTR	p.D439E	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	7	1434	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	439					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1317T>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.872923	0.00542	.	.	ENSG00000109674	ENST00000264596	T	0.03635	3.86	5.09	2.62	0.31277	.	1.315570	0.04404	N	0.364698	T	0.02649	0.0080	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44143	-0.9347	10	0.02654	T	1	-0.3141	4.3439	0.11124	0.1474:0.1662:0.0:0.6864	.	439	Q8TAT5	NEIL3_HUMAN	E	439	ENSP00000264596:D439E	ENSP00000264596:D439E	D	+	3	2	NEIL3	178511733	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	-0.169000	0.09911	0.979000	0.38497	0.455000	0.32223	GAT		0.373	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		G	178274739	T	G	178274739	3	3	268	1	0	0	0	0	1	0	0	0	10320	1403	49	5	1347	5	NEIL3	4	178274739	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	52682905	178274739	12879537	19	19121											
ATG12	9140	broad.mit.edu	37	chr5	115177234	115177234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctgcaacacagactGcggctcctccgccatcttgc	9	7	10	15	2	1	1	0	0	1	1	3	2	3	2	3	2	5	3	3	2	2	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:115177234G>A	ENST00000509910.1	-	1	321	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_Nonsense_Mutation_p.Q53*|ATG12_ENST00000500945.2_Nonsense_Mutation_p.Q6*|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12	6					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AACACAGACTGCGGCTCCTCC	0.607																																						uc003krh.3																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(16-18)Cag>Tag		Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.							76	85	82					5																	115177234		2202	4300	6502	SO:0001587	stop_gained	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177234G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.16C>T	5.37:g.115177234G>A	ENSP00000425107:p.Gln6*					AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Nonsense_Mutation_p.Q53*	p.Q6*	NM_004707	NP_004698	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	0	315	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	6					Q6PJV2	Nonsense_Mutation	SNP	ENST00000509910.1	37	c.16C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	35	5.569962	0.96540	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	1.99	0.26369	.	0.589274	0.15914	N	0.238470	.	.	.	.	.	.	0.20764	N	0.999853	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-19.0618	8.6744	0.34170	0.0:0.4629:0.4495:0.0876	.	.	.	.	X	53;6;6	.	ENSP00000274459:Q53X	Q	-	1	0	ATG12	115205133	0.316000	0.24580	0.011000	0.14972	0.006000	0.05464	1.839000	0.39220	0.482000	0.27582	-0.165000	0.13383	CAG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		A	115177234	G	A	115177234	4	1	268	1	0	0	0	0	0	1	0	0	1090	1328	46	3	422	3	ATG12	5	115177234	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		115177234	65738026	20	19122											
PCDHB10	56126	broad.mit.edu	37	chr5	140573541	140573541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	10	3	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	2	3	1	0	0	rs17844565	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:140573541C>T	ENST00000239446.4	+	1	1600	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	472	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S472S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16966	0		0	False		,,,				2504	0					uc003lix.3																			1	Substitution - coding silent(1)	p.S472S(2)	prostate(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1414-1416)agC>agT		Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.		C		43,4361		0,43,2159	42	51	48		1416	1.4	0.9	5	dbSNP_123	48	2,8586		0,2,4292	no	coding-synonymous	PCDHB10	NM_018930.3		0,45,6451	TT,TC,CC		0.0233,0.9764,0.3464		472/801	140573541	45,12947	2202	4294	6496	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573541C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1416C>T	5.37:g.140573541C>T							p.S472S	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1590	+			472			Cadherin 5.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1416C>T	CCDS4252.1																																																																																				0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140573541	C	T	140573541	2	4	268	1	0	0	0	0	0	0	0	1	11535	767	27	1		1	PCDHB10	5	140573541	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	25396307	140573541	40341719	21	19123											
ZUFSP	221302	broad.mit.edu	37	chr6	116987896	116987896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacagaatggacattcagGaggactgtatgttgtttcat	11	13	10	7	0	2	1	2	0	0	1	3	4	3	4	1	3	0	3	1	3	2	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:116987896G>T	ENST00000368576.3	-	2	703	c.460C>A	c.(460-462)Cct>Act	p.P154T	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P154T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	154							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATTCAGGAGGACTGTAT	0.378																																						uc003pxf.2																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(460-462)Cct>Act		Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.							124	113	116					6																	116987896		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116987896G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.460C>A	6.37:g.116987896G>T	ENSP00000357565:p.Pro154Thr					ZUFSP_uc010kef.2_Intron	p.P154T	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	1	720	-			154					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.460C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373079	0.24857	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.27557	1.66;1.67	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	M	0.63843	1.955	0.49299	D	0.999774	B	0.30824	0.296	B	0.23275	0.045	T	0.02691	-1.1123	10	0.22706	T	0.39	-15.7139	17.4446	0.87574	0.0:0.0:1.0:0.0	.	154	Q96AP4	ZUFSP_HUMAN	T	154	ENSP00000357565:P154T;ENSP00000357562:P154T	ENSP00000357562:P154T	P	-	1	0	ZUFSP	117094589	0.999000	0.42202	0.763000	0.31416	0.048000	0.14542	5.239000	0.65371	2.705000	0.92388	0.655000	0.94253	CCT		0.378	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		T	116987896	G	T	116987896	3	4	268	1	0	0	0	0	1	0	0	0	18243	1174	41	5	1312	5	ZUFSP	6	116987896	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		116987896	54127171	22	19124											
LAMA2	3908	broad.mit.edu	37	chr6	129573419	129573419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctacaaatcacatacagctTtgggatggatgccatcttca	12	11	7	11	0	3	0	2	0	1	0	3	2	3	2	2	2	4	1	2	2	3	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:129573419T>C	ENST00000421865.2	+	14	2124	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	692	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATACAGCTTTGGGATGGAT	0.453																																						uc021zfb.1																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2074-2076)tTt>tCt		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							71	69	70					6																	129573419		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129573419T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2075T>C	6.37:g.129573419T>C	ENSP00000400365:p.Phe692Ser					LAMA2_uc003qbn.3_Missense_Mutation_p.F692S|LAMA2_uc003qbo.3_Missense_Mutation_p.F692S	p.F692S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	13	2180	+			692			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2075T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	9.783	1.175776	0.21704	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32515	1.45	5.53	1.66	0.24008	Laminin B type IV (2);Laminin B, subgroup (1);	0.781758	0.12223	N	0.488168	T	0.05135	0.0137	N	0.16368	0.405	0.25453	N	0.987989	B;B	0.18013	0.025;0.025	B;B	0.18871	0.023;0.023	T	0.44877	-0.9299	10	0.17369	T	0.5	.	6.4653	0.21977	0.5253:0.0731:0.0:0.4016	.	692;692	A6NF00;P24043	.;LAMA2_HUMAN	S	692	ENSP00000400365:F692S	ENSP00000346769:F692S	F	+	2	0	LAMA2	129615112	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.744000	0.38268	0.102000	0.17638	0.477000	0.44152	TTT		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			C	129573419	T	C	129573419	3	2	268	1	0	0	0	0	1	0	0	0	8606	1841	64	4	2129	4	LAMA2	6	129573419	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	12585523	129573419	41541648	23	19125											
PLXNA4	91584	broad.mit.edu	37	chr7	131982916	131982916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccatatcccggaggactggGccggggtccaccacctgcac	7	5	13	16	2	0	0	0	0	0	0	2	2	2	2	6	5	1	1	6	5	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr7:131982916G>T	ENST00000359827.3	-	4	2399	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G	PLXNA4_ENST00000321063.4_Silent_p.G479G			Q9HCM2	PLXA4_HUMAN	plexin A4	479	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGACTGGGCCGGGGTCCA	0.582																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1435-1437)ggC>ggA		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							70	76	74					7																	131982916		1967	4143	6110	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131982916G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1437C>A	7.37:g.131982916G>T							p.G479G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			3	1666	-			479			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.1437C>A	CCDS43646.1																																																																																				0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131982916	G	T	131982916	2	4	268	1	0	0	0	0	0	0	0	1	12122	1190	42	5		5	PLXNA4	7	131982916	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		131982916	27155747	24	19126											
DLGAP2	9228	broad.mit.edu	37	chr8	1574988	1574988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaactccccgaaattcCgctcccggaaccagagctac	12	6	6	17	3	0	1	0	0	0	1	3	3	3	2	5	1	5	2	5	1	5	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr8:1574988C>T	ENST00000421627.2	+	4	1419	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	508					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617																																						uc003wpl.3																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1285-1287)Cgc>Tgc		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							39	43	42					8																	1574988		1982	4166	6148	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1574988C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1285C>T	8.37:g.1574988C>T	ENSP00000400258:p.Arg429Cys					DLGAP2_uc003wpm.3_Missense_Mutation_p.R429C	p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	3	1382	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	508					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1285C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451467	0.84209	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.24151	1.87	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;P	0.65010	0.931;0.891	T	0.64313	-0.6437	10	0.87932	D	0	-20.2419	18.6392	0.91389	0.0:1.0:0.0:0.0	.	508;508	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	C	474;429	ENSP00000400258:R429C	ENSP00000348366:R474C	R	+	1	0	DLGAP2	1562395	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.658000	0.68003	2.375000	0.81037	0.655000	0.94253	CGC		0.617	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1574988	C	T	1574988	3	4	268	1	0	0	0	0	1	0	0	0	4560	652	23	2	1295	2	DLGAP2	8	1574988	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		1574988	144789034	25	19127											
MPDZ	8777	broad.mit.edu	37	chr9	13162794	13162794	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggcacataagtaatTctggaacaaaccagaatcca	16	8	7	10	0	2	1	0	0	2	1	3	2	3	2	2	2	3	3	2	2	5	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr9:13162794T>C	ENST00000319217.7	-	23	3502	c.3255A>G	c.(3253-3255)aaA>aaG	p.K1085K	MPDZ_ENST00000381015.4_Splice_Site_p.K1085K|MPDZ_ENST00000447879.1_Splice_Site_p.K1085K|MPDZ_ENST00000541718.1_Splice_Site_p.K1085K|MPDZ_ENST00000538841.1_5'UTR|MPDZ_ENST00000546205.1_Splice_Site_p.V1099V|MPDZ_ENST00000381022.2_Splice_Site_p.K1085K|MPDZ_ENST00000536827.1_Splice_Site_p.K1085K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1085	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CATAAGTAATTCTGGAACAAA	0.348																																						uc010mia.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.e22-1		Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.							88	81	83					9																	13162794		1824	4082	5906	SO:0001630	splice_region_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13162794T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3255-1A>G	9.37:g.13162794T>C						MPDZ_uc010mhx.3_Splice_Site|MPDZ_uc011lmm.2_Splice_Site|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Splice_Site_p.K1085_splice|MPDZ_uc011lmn.2_Splice_Site_p.K1085_splice|MPDZ_uc010mhy.3_Splice_Site_p.K1085_splice|MPDZ_uc003zlb.4_Splice_Site_p.K1085_splice	p.K1085_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3312	-			1085			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.3255_splice																																																																																					0.348	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Silent	C	13162794	T	C	13162794	5	2	268	1	0	0	0	0	0	0	1	0	9722	1797	62	4	2966	4	MPDZ	9	13162794	Splice_Site	SNP	T	TCGA-76-6193-01A-11D-1696-08		13162794	128050637	26	19128											
ITGA8	8516	broad.mit.edu	37	chr10	15590502	15590502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgactttcaggactgcGctttctcctccttcgagtcg	5	13	9	14	3	2	1	1	1	1	0	6	4	3	2	3	1	1	1	3	1	0	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:15590502G>A	ENST00000378076.3	-	27	3185	c.2832C>T	c.(2830-2832)agC>agT	p.S944S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	944					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGGACTGCGCTTTCTCCTC	0.483																																						uc001ioc.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2830-2832)agC>agT		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							205	167	180					10																	15590502		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15590502G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2832C>T	10.37:g.15590502G>A						ITGA8_uc010qcb.1_Silent_p.S929S	p.S944S	NM_003638	NP_003629	P53708	ITA8_HUMAN			26	2832	-			944					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2832C>T	CCDS31155.1																																																																																				0.483	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15590502	G	A	15590502	2	1	268	1	0	0	0	0	0	0	0	1	7882	1078	38	1		1	ITGA8	10	15590502	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		15590502	119944245	27	19129											
PLCE1	51196	broad.mit.edu	37	chr10	95791394	95791394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagttgacagaagaatGtcagacactttctgtaccct	13	12	8	8	0	2	5	1	2	1	3	2	5	2	5	1	0	1	2	1	0	5	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:95791394G>A	ENST00000371380.3	+	1	826	c.591G>A	c.(589-591)atG>atA	p.M197I	PLCE1_ENST00000260766.3_Missense_Mutation_p.M197I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	197					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGAAGAATGTCAGACACTT	0.408																																						uc001kjk.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(589-591)atG>atA		Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.							93	89	90					10																	95791394		1916	4128	6044	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791394G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.591G>A	10.37:g.95791394G>A	ENSP00000360431:p.Met197Ile					PLCE1_uc010qnx.2_Missense_Mutation_p.M197I	p.M197I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			1	1225	+		Colorectal(252;0.0458)	197					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.591G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528335	0.27299	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.72942	-0.7;-0.7	4.98	1.54	0.23209	.	0.691781	0.12980	N	0.423348	T	0.47507	0.1449	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26573	-1.0099	10	0.17369	T	0.5	.	3.5936	0.07998	0.4644:0.1978:0.3378:0.0	.	197;197	B7ZM61;Q9P212	.;PLCE1_HUMAN	I	197	ENSP00000260766:M197I;ENSP00000360431:M197I	ENSP00000260766:M197I	M	+	3	0	PLCE1	95781384	0.998000	0.40836	0.955000	0.39395	0.977000	0.68977	0.876000	0.28092	0.610000	0.30035	0.655000	0.94253	ATG		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		A	95791394	G	A	95791394	3	1	268	1	0	0	0	0	1	0	0	0	12034	1377	48	3	593	3	PLCE1	10	95791394	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	80200892	95791394	39743353	28	19130											
KIAA1598	57698	broad.mit.edu	37	chr10	118689505	118689505	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctagttgctcttctaaTtctttgacctataagttatt	8	22	4	7	0	4	1	0	1	4	0	4	1	4	1	1	0	1	3	1	0	5	12	rs145640256	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:118689505T>A	ENST00000355371.4	-	10	1364	c.867A>T	c.(865-867)gaA>gaT	p.E289D	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.E289D|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E229D|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E289D	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	289					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCTTCTAATTCTTTGACCT	0.308													T|||	3	0.000599042	0.0023	0	5008	,	,		14972	0		0	False		,,,				2504	0					uc021pzk.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(865-867)gaA>gaT		Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.		T	ASP/GLU,ASP/GLU	3,4399	6.2+/-15.9	0,3,2198	135	126	129		867,867	-1.3	0.7	10	dbSNP_134	129	0,8596		0,0,4298	yes	missense,missense	KIAA1598	NM_001127211.1,NM_018330.5	45,45	0,3,6496	AA,AT,TT		0.0,0.0682,0.0231	benign,benign	289/632,289/457	118689505	3,12995	2201	4298	6499	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118689505T>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.867A>T	10.37:g.118689505T>A	ENSP00000347532:p.Glu289Asp					KIAA1598_uc009xyw.3_Missense_Mutation_p.E289D|KIAA1598_uc001lcz.4_Missense_Mutation_p.E289D|KIAA1598_uc010qso.2_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.4_Missense_Mutation_p.E259D	p.E289D	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	9	1365	-			289					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.867A>T	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	T	7.863	0.726539	0.15439	6.82E-4	0.0	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.74106	2.98;1.41;2.98;-0.81	5.35	-1.32	0.09201	.	0.574408	0.20611	N	0.088968	T	0.57489	0.2057	L	0.45581	1.43	0.30989	N	0.721643	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.002;0.002;0.003	T	0.43458	-0.9390	10	0.16896	T	0.51	-2.7627	4.9566	0.14044	0.0:0.2476:0.3003:0.4521	.	289;289;259	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	D	289;289;289;229	ENSP00000376636:E289D;ENSP00000260777:E289D;ENSP00000347532:E289D;ENSP00000376635:E229D	ENSP00000260777:E289D	E	-	3	2	KIAA1598	118679495	0.559000	0.26562	0.679000	0.29978	0.659000	0.38960	-0.310000	0.08135	-0.395000	0.07715	0.459000	0.35465	GAA		0.308	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		A	118689505	T	A	118689505	3	1	268	1	0	0	0	0	1	0	0	0	8246	1490	52	5	1060	5	KIAA1598	10	118689505	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	22898111	118689505	16845242	29	19131											
OR5D16	390144	broad.mit.edu	37	chr11	55606593	55606593	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttgcggtgatggcctaTgaccactttgtggccatttg	6	15	11	9	1	0	2	0	2	0	0	0	2	0	2	3	3	1	0	3	3	2	5			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr11:55606593T>A	ENST00000378396.1	+	1	366	c.366T>A	c.(364-366)taT>taA	p.Y122*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGGCCTATGACCACTTTG	0.433																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(364-366)taT>taA		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							130	122	125					11																	55606593		2201	4296	6497	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606593T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.366T>A	11.37:g.55606593T>A	ENSP00000367649:p.Tyr122*						p.Y122*	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	366	+		all_epithelial(135;0.208)	122					Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.366T>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.049144	0.36181	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.29	0.595	0.17490	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.4539	7.5986	0.28063	0.0:0.3642:0.0:0.6358	.	.	.	.	X	122	.	ENSP00000367649:Y122X	Y	+	3	2	OR5D16	55363169	0.968000	0.33430	0.002000	0.10522	0.603000	0.37013	0.128000	0.15810	0.179000	0.19938	-0.516000	0.04426	TAT		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606593	T	A	55606593	4	1	268	1	0	0	0	0	0	1	0	0	11156	1471	51	5	368	5	OR5D16	11	55606593	Nonsense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08		55606593	79399923	30	19132											
LRRIQ1	84125	broad.mit.edu	37	chr12	85466877	85466877	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacttatactggaattGtaagttgtgtttatttttta	9	20	6	6	0	0	0	0	0	0	0	1	1	1	1	1	1	1	3	1	1	6	10			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:85466877G>T	ENST00000393217.2	+	11	2948		c.e11+1			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTGGAATTGTAAGttgtgt	0.358																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.e11+1		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							60	59	59					12																	85466877		2203	4300	6503	SO:0001630	splice_region_variant	84125							g.chr12:85466877G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2887+1G>T	12.37:g.85466877G>T						LRRIQ1_uc021rbo.1_Splice_Site_p.C841_splice	p.C963_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	2998	+			963					Q567P4|Q9BS17|Q9HA36	Splice_Site	SNP	ENST00000393217.2	37	c.2887_splice	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	3.892	-0.023699	0.07634	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	3.12	-1.13	0.09775	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8567	0.18724	0.5745:0.0:0.4255:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRIQ1	83991008	0.011000	0.17503	0.001000	0.08648	0.066000	0.16364	0.488000	0.22371	-0.268000	0.09312	-0.290000	0.09829	.		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	Intron	T	85466877	G	T	85466877	5	4	268	1	0	0	0	0	0	0	1	0	9029	1391	48	5	2926	5	LRRIQ1	12	85466877	Splice_Site	SNP	G	TCGA-76-6193-01A-11D-1696-08		85466877	48385018	31	19133											
NOS1	4842	broad.mit.edu	37	chr12	117723943	117723943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggatcctgcccacacagCgcgaggcattccgccaggcg	8	5	12	16	4	0	0	0	0	0	0	2	2	2	1	4	3	2	1	4	3	0	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:117723943C>T	ENST00000338101.4	-	5	1260	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R419H			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCCCACACAGCGCGAGGCATT	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1255-1257)cGc>cAc		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						130	131	130					12																	117723943		2168	4298	6466	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723943C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1256G>A	12.37:g.117723943C>T	ENSP00000337459:p.Arg419His					NOS1_uc021ren.1_Missense_Mutation_p.R83H|NOS1_uc021reo.1_Missense_Mutation_p.R83H|NOS1_uc001twm.2_Missense_Mutation_p.R419H	p.R419H	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	5	1967	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		419						Missense_Mutation	SNP	ENST00000338101.4	37	c.1256G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314615	0.95655	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.55930	0.49;0.49	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85714	0.1321	10	0.87932	D	0	-26.0352	18.3299	0.90264	0.0:1.0:0.0:0.0	.	419	P29475	NOS1_HUMAN	H	419	ENSP00000320758:R419H;ENSP00000337459:R419H	ENSP00000320758:R419H	R	-	2	0	NOS1	116208326	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.562000	0.82300	2.559000	0.86315	0.591000	0.81541	CGC		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117723943	C	T	117723943	3	4	268	1	0	0	0	0	1	0	0	0	10541	768	27	1	3144	1	NOS1	12	117723943	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	32257066	117723943	16127952	32	19134											
ACADS	35	broad.mit.edu	37	chr12	121164991	121164991	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcttcccagcggctcAggtgagagtgcaacctcagc	9	8	10	14	1	3	1	2	1	1	1	5	2	4	1	2	2	4	2	2	2	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:121164991A>G	ENST00000242592.4	+	2	360	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	ACADS_ENST00000411593.2_Splice_Site_p.Q70R	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	70					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CCAGCGGCTCAGGTGAGAGTG	0.567																																						uc001tza.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.e2+1		Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						140	129	133					12																	121164991		2203	4300	6503	SO:0001630	splice_region_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121164991A>G	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.210+1A>G	12.37:g.121164991A>G						ACADS_uc010szl.1_Splice_Site_p.Q70_splice	p.Q70_splice	NM_000017	NP_000008	P16219	ACADS_HUMAN			2	328	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	70					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.210_splice	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904842	0.33628	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99663	-5.18;-6.33	4.46	4.46	0.54185	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	M	0.87180	2.865	0.80722	D	1	D;P	0.56521	0.976;0.504	P;P	0.59948	0.866;0.512	D	0.99984	1.2964	10	0.10902	T	0.67	.	13.9032	0.63819	1.0:0.0:0.0:0.0	.	70;70	E9PE82;P16219	.;ACADS_HUMAN	R	70	ENSP00000242592:Q70R;ENSP00000401045:Q70R	ENSP00000242592:Q70R	Q	+	2	0	ACADS	119649374	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	8.123000	0.89586	1.878000	0.54408	0.459000	0.35465	CAG		0.567	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	Missense_Mutation	G	121164991	A	G	121164991	5	3	268	1	0	0	0	0	0	0	1	0	114	202	7	4	215	4	ACADS	12	121164991	Splice_Site	SNP	A	TCGA-76-6193-01A-11D-1696-08	3441048	121164991	12686904	33	19135											
RB1	5925	broad.mit.edu	37	chr13	49039379	49039379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacctcacattcctcgaagCccttacaagtttcctagttc	10	13	4	14	1	1	0	1	0	0	0	5	1	3	0	4	0	3	2	4	0	5	6			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:49039379C>T	ENST00000267163.4	+	23	2502	c.2364C>T	c.(2362-2364)agC>agT	p.S788S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	788	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCCTCGAAGCCCTTACAAGT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)|p.R787*(4)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2362-2364)agC>agT		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						154	158	157					13																	49039379		2203	4300	6503	SO:0001819	synonymous_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039379C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2364C>T	13.37:g.49039379C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S788S	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2530	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	788			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.2364C>T	CCDS31973.1																																																																																				0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	49039379	C	T	49039379	2	4	268	1	0	0	0	0	0	0	0	1	13098	738	26	3		3	RB1	13	49039379	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		49039379	66130499	34	19136											
C13orf34	79866	broad.mit.edu	37	chr13	73321201	73321201	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctcatatgtgcatgtcAcctcttgctgaaagcagtgt	10	13	8	10	0	3	1	2	1	2	0	4	1	3	1	1	0	4	3	1	0	3	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:73321201A>G	ENST00000390667.5	+	10	1531	c.1434A>G	c.(1432-1434)tcA>tcG	p.S478S	BORA_ENST00000377815.3_Silent_p.S408S	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	478					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TGTGCATGTCACCTCTTGCTG	0.413																																						uc010aen.1																			0											c.(1657-1659)tcA>tcG		Homo sapiens bora, aurora kinase A activator (BORA), mRNA.							216	200	205					13																	73321201		1915	4138	6053	SO:0001819	synonymous_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73321201A>G	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1434A>G	13.37:g.73321201A>G						BORA_uc010thq.1_Silent_p.S253S|BORA_uc001viv.1_Silent_p.S478S|BORA_uc010thr.1_Silent_p.S408S	p.S553S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN			9	1806	+			478					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	ENST00000390667.5	37	c.1659A>G	CCDS9446.1																																																																																				0.413	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		G	73321201	A	G	73321201	2	3	268	1	0	0	0	0	0	0	0	1	1728	146	6	4		4	C13orf34	13	73321201	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	24281822	73321201	41848677	35	19137											
PYGO1	26108	broad.mit.edu	37	chr15	55838924	55838927	+	Frame_Shift_Del	DEL	TGAC	TGAC	-																															tagcattctgtggaggaattTgactgaaattttcagcagga																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr15:55838924_55838927delTGAC	ENST00000302000.6	-	3	648_651	c.554_557delGTCA	c.(553-558)agtcaafs	p.SQ185fs	PYGO1_ENST00000563719.1_Frame_Shift_Del_p.SQ185fs	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	185	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGAGGAATTTGACTGAAATTTTC	0.333																																						uc002adf.1																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(553-558)agtcaafs		Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.																																				SO:0001589	frameshift_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838924_55838927delTGAC	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.554_557delGTCA	15.37:g.55838924_55838927delTGAC	ENSP00000302327:p.Ser185fs					PYGO1_uc010bfl.1_Frame_Shift_Del_p.S185fs	p.S185fs	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	2	554_557	-			185			Asn-rich.		A7Y2D6	Frame_Shift_Del	DEL	ENST00000302000.6	37	c.554_557delGTCA	CCDS10155.1																																																																																				0.333	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		-	55838927	TGAC	-	55838924	7	5	268	1	0	1	0	1	0	0	0	0	12863	1812	63	0	706	0	PYGO1	15	55838924	Frame_Shift_Del	DEL	TGAC	TCGA-76-6193-01A-11D-1696-08		55838924	46692468	36	19138											
MAPK3	5595	broad.mit.edu	37	chr16	30128054	30128054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagctccttcagccGctccttaggtaggtcatcca	9	10	10	12	1	2	2	2	1	0	1	5	3	5	2	4	2	2	3	4	2	3	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:30128054G>A	ENST00000263025.4	-	8	1159	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000395200.1_Missense_Mutation_p.R291W|MAPK3_ENST00000322266.5_Missense_Mutation_p.R315W|MAPK3_ENST00000395202.1_Missense_Mutation_p.R315W|MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000484663.1_Missense_Mutation_p.R245W	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	359					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.R359W(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	TCCTTCAGCCGCTCCTTAGGT	0.642																																						uc002dws.3																			1	Substitution - Missense(1)	p.R359W(1)	stomach(1)								c.(1075-1077)Cgg>Tgg		Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						54	57	56					16																	30128054		2197	4300	6497	SO:0001583	missense	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30128054G>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1075C>T	16.37:g.30128054G>A	ENSP00000263025:p.Arg359Trp					BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.R245W|MAPK3_uc002dwv.4_Missense_Mutation_p.R315W|MAPK3_uc002dwt.3_3'UTR	p.R359W	NM_002746	NP_002737	P27361	MK03_HUMAN			7	1175	-			359					A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.1075C>T	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132643	0.77662	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000395200;ENST00000395202;ENST00000478356	T;T;T;T;T;T	0.76839	-1.05;-0.98;-1.01;0.69;-1.01;2.73	5.79	3.77	0.43336	Protein kinase-like domain (1);	0.278569	0.35067	N	0.003468	D	0.82907	0.5139	M	0.73217	2.22	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.54924	0.764;0.477	D	0.84237	0.0470	10	0.87932	D	0	-1.6735	13.077	0.59093	0.0:0.0:0.461:0.539	.	315;359	P27361-2;P27361	.;MK03_HUMAN	W	359;245;315;291;315;122	ENSP00000263025:R359W;ENSP00000432742:R245W;ENSP00000327293:R315W;ENSP00000378626:R291W;ENSP00000378628:R315W;ENSP00000432292:R122W	ENSP00000263025:R359W	R	-	1	2	MAPK3	30035555	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	3.154000	0.50693	0.741000	0.32674	0.655000	0.94253	CGG		0.642	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			A	30128054	G	A	30128054	3	1	268	1	0	0	0	0	1	0	0	0	9279	1086	38	1	68	1	MAPK3	16	30128054	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		30128054	60226699	37	19139											
SLC12A3	6559	broad.mit.edu	37	chr16	56913524	56913524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggggccaccctctcctctgCcctggcctgccttgtctctg	1	11	10	19	1	3	0	0	0	3	0	5	0	3	0	6	3	2	0	6	3	0	1	rs139743444	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:56913524C>T	ENST00000563236.1	+	11	1431	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A469V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A468V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A468V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	469					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCTCCTCTGCCCTGGCCTGC	0.632																																						uc002ekd.4																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1405-1407)gCc>gTc		Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	56	49	52		1406,1403,1406	4.4	1	16	dbSNP_134	52	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	64,64,64	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	469/1031,468/1030,469/1022	56913524	3,12993	2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56913524C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1406C>T	16.37:g.56913524C>T	ENSP00000456149:p.Ala469Val					SLC12A3_uc010ccm.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A468V	p.A469V	NM_000339	NP_000330	P55017	S12A3_HUMAN			10	1435	+			469					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1406C>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383333	0.95967	0.0	3.49E-4	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.4	4.4	0.53042	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.994	D;D;P	0.71870	0.975;0.936;0.895	D	0.83731	0.0198	9	0.87932	D	0	.	17.1781	0.86846	0.0:1.0:0.0:0.0	.	468;469;469	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	468;469	.	ENSP00000262502:A469V	A	+	2	0	SLC12A3	55471025	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.517000	0.81783	2.281000	0.76405	0.462000	0.41574	GCC		0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			T	56913524	C	T	56913524	3	4	268	1	0	0	0	0	1	0	0	0	14384	739	26	3	1448	3	SLC12A3	16	56913524	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	26785470	56913524	33441229	38	19140											
C17orf85	55421	broad.mit.edu	37	chr17	3721586	3721586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactgagattccacttcGtcagcatacatagtcatttt	11	15	5	10	1	3	1	3	1	0	1	5	2	4	1	1	0	3	1	1	0	3	7			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:3721586G>A	ENST00000389005.4	-	10	1308	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	C17orf85_ENST00000158149.3_Silent_p.D147D	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	427							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTCCACTTCGTCAGCATACA	0.328																																						uc010ckl.1																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(1279-1281)gaC>gaT		Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.							74	76	75					17																	3721586		2203	4300	6503	SO:0001819	synonymous_variant	55421						nucleotide binding	g.chr17:3721586G>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1281C>T	17.37:g.3721586G>A						C17orf85_uc002fwr.2_Silent_p.D137D|C17orf85_uc002fwq.2_Silent_p.D147D	p.D427D	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	9	1304	-			427					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	c.1281C>T	CCDS45578.1																																																																																				0.328	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		A	3721586	G	A	3721586	2	1	268	1	0	0	0	0	0	0	0	1	1888	1136	40	1		1	C17orf85	17	3721586	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		3721586	77473624	39	19141											
TP53	7157	broad.mit.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	8	8	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	2	rs397516437		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000420246.2_Missense_Mutation_p.G244S|TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000359597.4_Missense_Mutation_p.G244S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.G244C(82)|p.G244S(75)|p.G244D(42)|p.G244V(14)|p.G244G(13)|p.M243L(10)|p.G244R(10)|p.G244fs*3(9)|p.G244A(9)|p.0?(8)|p.M243I(7)|p.M243T(5)|p.?(5)|p.G151C(4)|p.G244fs*4(4)|p.M243V(3)|p.G244fs*19(2)|p.G244fs*17(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.M243K(2)|p.M243R(2)|p.G244del(2)|p.M243fs*18(2)|p.M243_G244>IC(2)|p.S241_G245delSCMGG(2)|p.G244_M246del(1)|p.Y236_M243delYMCNSSCM(1)|p.G151R(1)|p.G151S(1)|p.G151fs*4(1)|p.G244_M246>V(1)|p.M243fs*4(1)|p.C242fs*98(1)|p.G244E(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(730-732)Ggc>Agc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							147	111	123					17																	7577551		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577551C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.3_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G244S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	924	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.730G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577551	C	T	7577551	3	4	268	1	0	0	0	0	1	0	0	0	16378	623	22	3	560	3	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	3855965	7577551	73617659	40	19142											
TP53	7157	broad.mit.edu	37	chr17	7578464	7578464	+	Missense_Mutation	SNP	G	G	A																															gatggccatggcgcggacgcGggtgccgggcgggggtgtgg																								rs563378859		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578464G>A	ENST00000269305.4	-	5	655	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R156C|TP53_ENST00000413465.2_Missense_Mutation_p.R156C|TP53_ENST00000420246.2_Missense_Mutation_p.R156C|TP53_ENST00000445888.2_Missense_Mutation_p.R156C|TP53_ENST00000359597.4_Missense_Mutation_p.R156C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156fs*14(9)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCGGACGCGGGTGCCGGGC	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		58	Deletion - Frameshift(24)|Deletion - In frame(11)|Whole gene deletion(8)|Substitution - Missense(8)|Unknown(5)|Insertion - Frameshift(2)	p.R156P(24)|p.R156fs*14(20)|p.T155N(20)|p.T155P(16)|p.T155I(12)|p.R156H(10)|p.0?(8)|p.T155A(8)|p.R156S(6)|p.R156G(6)|p.?(5)|p.R156fs*25(5)|p.T155T(5)|p.R156_I162delRVRAMAI(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.R156C(4)|p.R156R(3)|p.R156L(3)|p.T155_R156delTR(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156del(2)|p.G154fs*14(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.R156_V157del(2)|p.T155_A161delTRVRAMA(2)|p.G154_R156delGTR(2)|p.T155S(2)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*20(1)|p.R156_V157insV(1)	skin(7)|ovary(7)|upper_aerodigestive_tract(5)|lung(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|urinary_tract(2)|liver(2)|pancreas(2)|soft_tissue(1)|genital_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(466-468)Cgc>Tgc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	52	51					17																	7578464		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578464G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.466C>T	17.37:g.7578464G>A	ENSP00000269305:p.Arg156Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.3_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.2_Missense_Mutation_p.R117C	p.R156C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	660	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.466C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758445	0.15846	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.47	1.13	0.20643	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.98207	0.9407	L	0.42686	1.345	0.19300	N	0.999978	P;B;B;B;B;B;B	0.41910	0.764;0.026;0.026;0.179;0.017;0.069;0.414	B;B;B;B;B;B;B	0.36134	0.218;0.014;0.007;0.085;0.017;0.036;0.066	D	0.98452	1.0592	10	0.51188	T	0.08	-1.0137	1.5494	0.02571	0.2515:0.1413:0.4617:0.1454	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156C;ENSP00000352610:R156C;ENSP00000269305:R156C;ENSP00000398846:R156C;ENSP00000391127:R156C;ENSP00000391478:R156C;ENSP00000425104:R24C;ENSP00000423862:R63C;ENSP00000424104:R156C	ENSP00000269305:R156C	R	-	1	0	TP53	7519189	0.068000	0.21057	0.000000	0.03702	0.074000	0.17049	-0.035000	0.12205	0.068000	0.16574	0.563000	0.77884	CGC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578464	G	A	7578464	3	1	268	1	0	0	0	0	1	0	0	0	16378	1116	39	2	832	2	TP53	17	7578464	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	913	7578464	73616746	41	19143	25	2									
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T																															tggccatggcgcggacgcggGtgccgggcgggggtgtggaa																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGACGCGGGTGCCGGGCGG	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942117	TP53	M		c.(463-465)aCc>aAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50	52	51					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578466G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	p.T155N	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.464C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578466	G	T	7578466	3	4	268	1	0	0	0	0	1	0	0	0	16378	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	2	7578466	73616744	42	19144	25	2									
ALOX15B	247	broad.mit.edu	37	chr17	7942479	7942479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaggctggcagcatggcCgagttcagggtcagggtgtc	7	9	16	9	1	2	0	2	0	0	0	3	1	2	0	1	5	1	4	1	5	1	2	rs368392738		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7942479C>T	ENST00000380183.4	+	1	145	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ALOX15B_ENST00000573359.1_Silent_p.A2A|ALOX15B_ENST00000572022.1_Silent_p.A2A|ALOX15B_ENST00000380173.2_Silent_p.A2A	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	2	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGCATGGCCGAGTTCAGGG	0.652																																						uc002gju.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(4-6)gcC>gcT		Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.							54	56	55					17																	7942479		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7942479C>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.6C>T	17.37:g.7942479C>T						ALOX15B_uc002gjv.3_Silent_p.A2A|ALOX15B_uc002gjw.3_Silent_p.A2A|ALOX15B_uc010vun.2_Silent_p.A2A|ALOX15B_uc010cnp.3_5'UTR	p.A2A	NM_001141	NP_001132	O15296	LX15B_HUMAN			0	122	+			2			PLAT.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.6C>T	CCDS11128.1																																																																																				0.652	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7942479	C	T	7942479	2	4	268	1	0	0	0	0	0	0	0	1	539	639	23	2		2	ALOX15B	17	7942479	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	364013	7942479	73252731	43	19145											
BPTF	2186	broad.mit.edu	37	chr17	65924656	65924656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagctacagtaacattccaAcaaaacaagaactttcatca	18	8	3	12	0	2	1	2	0	0	1	3	1	3	1	2	0	6	2	2	0	7	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:65924656A>G	ENST00000321892.4	+	18	6376	c.6315A>G	c.(6313-6315)caA>caG	p.Q2105Q	BPTF_ENST00000306378.6_Silent_p.Q1979Q|BPTF_ENST00000424123.3_Silent_p.Q1966Q|BPTF_ENST00000335221.5_Silent_p.Q2105Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2105					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAACATTCCAACAAAACAAGA	0.393																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5935-5937)caA>caG		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							94	84	87					17																	65924656		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65924656A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6315A>G	17.37:g.65924656A>G						BPTF_uc002jge.3_Silent_p.Q2105Q	p.Q1979Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		15	5998	+	all_cancers(12;6e-11)		2105					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.5937A>G																																																																																					0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		G	65924656	A	G	65924656	2	3	268	1	0	0	0	0	0	0	0	1	1495	40	2	4		4	BPTF	17	65924656	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	57982177	65924656	15270554	44	19146											
TMEM146	257062	broad.mit.edu	37	chr19	5739352	5739352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatagcatgtcagtaatttgGtttttgcatatttccgtgga	9	18	9	5	1	1	0	1	0	0	0	2	1	2	1	1	2	2	4	1	2	4	8			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:5739352G>C	ENST00000381624.3	+	7	536	c.475G>C	c.(475-477)Gtt>Ctt	p.V159L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	159					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CAGTAATTTGGTTTTTGCATA	0.338																																						uc002mda.3																			0											c.(475-477)Gtt>Ctt		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							71	67	68					19																	5739352		1797	4074	5871	SO:0001583	missense	257062					integral to membrane		g.chr19:5739352G>C	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.475G>C	19.37:g.5739352G>C	ENSP00000371037:p.Val159Leu					CATSPERD_uc010duj.1_5'UTR	p.V159L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			6	536	+			159					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.475G>C	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274416	0.10403	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.18810	2.19	2.66	-4.51	0.03483	.	0.932289	0.08687	U	0.908592	T	0.13200	0.0320	L	0.43923	1.385	0.20638	N	0.999877	B	0.26602	0.154	B	0.23716	0.048	T	0.32402	-0.9908	10	0.23891	T	0.37	.	4.5458	0.12079	0.5124:0.1735:0.3141:0.0	.	159	Q86XM0	TM146_HUMAN	L	85;159	ENSP00000371037:V159L	ENSP00000371037:V159L	V	+	1	0	TMEM146	5690352	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.849000	0.04322	-0.950000	0.03659	-0.345000	0.07892	GTT		0.338	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		C	5739352	G	C	5739352	3	2	268	1	0	0	0	0	1	0	0	0	16057	1261	44	5	501	5	TMEM146	19	5739352	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		5739352	53389631	45	19147											
MUC16	94025	broad.mit.edu	37	chr19	9049260	9049260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattgaggtcaccaaccGtgatacagcaggcgagatag	13	6	12	10	2	1	3	1	2	0	1	1	5	1	3	3	2	3	1	3	2	3	3	rs199526498	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:9049260G>A	ENST00000397910.4	-	5	32574	c.32371C>T	c.(32371-32373)Cgg>Tgg	p.R10791W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10793	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACCAACCGTGATACAGCA	0.483													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		22122	0		0	False		,,,				2504	0.001					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32371-32373)Cgg>Tgg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.			TRP/ARG	5,3947		0,5,1971	159	144	149		32371	-2.4	0	19		149	3,8321		0,3,4159	yes	missense	MUC16	NM_024690.2	101	0,8,6130	AA,AG,GG		0.036,0.1265,0.0652	possibly-damaging	10791/14508	9049260	8,12268	1976	4162	6138	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049260G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32371C>T	19.37:g.9049260G>A	ENSP00000381008:p.Arg10791Trp						p.R10791W	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	32575	-			10793			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32371C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.977	0.181430	0.09495	0.001265	3.6E-4	ENSG00000181143	ENST00000397910	T	0.03004	4.08	2.81	-2.36	0.06663	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	.	.	.	P	0.50066	0.931	P	0.49853	0.624	T	0.41538	-0.9503	8	0.87932	D	0	.	4.0359	0.09729	0.0:0.3601:0.3887:0.2512	.	10791	B5ME49	.	W	10791	ENSP00000381008:R10791W	ENSP00000381008:R10791W	R	-	1	2	MUC16	8910260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.114000	0.15520	-0.361000	0.08125	-1.835000	0.00590	CGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9049260	G	A	9049260	3	1	268	1	0	0	0	0	1	0	0	0	9973	1144	40	1	11472	1	MUC16	19	9049260	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	3309908	9049260	50079723	46	19148											
CASP14	23581	broad.mit.edu	37	chr19	15164396	15164396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggaacacatgtttcGgcagctgagattcgaaagca	11	10	11	9	2	1	1	0	1	1	1	3	4	1	2	0	2	4	5	0	2	2	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:15164396G>T	ENST00000427043.3	+	3	439	c.131G>T	c.(130-132)cGg>cTg	p.R44L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R44L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	44					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R44Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527																																						uc010dzv.2																			1	Substitution - Missense(1)	p.R44Q(2)|p.R44W(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(130-132)cGg>cTg		Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.							96	92	94					19																	15164396		2203	4300	6503	SO:0001583	missense	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164396G>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.131G>T	19.37:g.15164396G>T	ENSP00000393417:p.Arg44Leu						p.R44L	NM_012114	NP_036246	P31944	CASPE_HUMAN			2	343	+			44					O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.131G>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	5.962	0.361465	0.11296	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.21734	1.99;1.99	4.91	0.166	0.14999	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.740041	0.12562	N	0.458063	T	0.13927	0.0337	L	0.31526	0.94	0.09310	N	1	B	0.15719	0.014	B	0.20384	0.029	T	0.35151	-0.9800	10	0.22706	T	0.39	.	8.9081	0.35537	0.7491:0.0:0.2509:0.0	.	44	P31944	CASPE_HUMAN	L	44	ENSP00000393417:R44L;ENSP00000221740:R44L	ENSP00000221740:R44L	R	+	2	0	CASP14	15025396	0.000000	0.05858	0.029000	0.17559	0.108000	0.19459	-0.206000	0.09398	-0.366000	0.08064	-1.847000	0.00572	CGG		0.527	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		T	15164396	G	T	15164396	3	4	268	1	0	0	0	0	1	0	0	0	2670	1116	39	5	137	5	CASP14	19	15164396	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	6115136	15164396	43964587	47	19149											
PPFIA3	8541	broad.mit.edu	37	chr19	49651354	49651354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagatcctggcatatggCgacatgaaccacgagtgggt	10	7	12	12	2	0	2	0	1	0	1	1	4	1	2	4	3	1	1	4	3	2	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:49651354C>T	ENST00000334186.4	+	24	3199	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	PPFIA3_ENST00000602351.1_Silent_p.G941G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	950					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGCATATGGCGACATGAACC	0.617																																						uc002pmr.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2848-2850)ggC>ggT		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.							63	63	63					19																	49651354		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49651354C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2850C>T	19.37:g.49651354C>T						PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.G809G|PPFIA3_uc002pmt.3_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	p.G950G	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	23	3182	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	950					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2850C>T	CCDS12758.1																																																																																				0.617	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		T	49651354	C	T	49651354	2	4	268	1	0	0	0	0	0	0	0	1	12311	755	27	1		1	PPFIA3	19	49651354	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	34486958	49651354	9477629	48	19150											
PDYN	5173	broad.mit.edu	37	chr20	1961151	1961151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcccatgctatcccCgtccccctccccagccacct	5	8	5	23	1	1	0	1	0	0	0	4	0	4	0	9	1	2	1	9	1	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:1961151C>T	ENST00000217305.2	-	4	808	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	PDYN_ENST00000540134.1_Missense_Mutation_p.G195R|PDYN_ENST00000539905.1_Missense_Mutation_p.G195R|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	195					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCTATCCCCGTCCCCCTCC	0.597																																						uc010gaj.3																			0		p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(583-585)Ggg>Agg		Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.							90	100	97					20																	1961151		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961151C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.583G>A	20.37:g.1961151C>T	ENSP00000217305:p.Gly195Arg					AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G195R|PDYN_uc021vzt.1_Missense_Mutation_p.G195R|PDYN_uc021vzu.1_Missense_Mutation_p.G195R|PDYN_uc002wfv.3_Missense_Mutation_p.G195R	p.G195R	NM_001190892	NP_077722	P01213	PDYN_HUMAN			2	825	-			195					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.583G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530261	0.13127	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80738	-1.41;-1.41;-1.41	4.77	3.82	0.43975	.	0.473604	0.22782	N	0.055719	T	0.60625	0.2283	N	0.16066	0.365	0.19300	N	0.999975	B	0.30179	0.271	B	0.19148	0.024	T	0.52586	-0.8556	10	0.42905	T	0.14	-18.6761	6.9862	0.24729	0.0:0.7993:0.0:0.2007	.	195	P01213	PDYN_HUMAN	R	195	ENSP00000440185:G195R;ENSP00000442259:G195R;ENSP00000217305:G195R	ENSP00000217305:G195R	G	-	1	0	PDYN	1909151	0.093000	0.21703	0.168000	0.22838	0.064000	0.16182	2.559000	0.45888	1.227000	0.43598	0.313000	0.20887	GGG		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			T	1961151	C	T	1961151	3	4	268	1	0	0	0	0	1	0	0	0	11699	652	23	2	185	2	PDYN	20	1961151	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		1961151	61064369	49	19151											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493649	20493649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactctcacatcagagagaGagcccactggtgatccccct	10	9	8	14	0	2	3	2	1	1	2	4	5	3	3	3	1	2	0	3	1	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:20493649G>C	ENST00000202677.7	-	32	4371	c.4364C>G	c.(4363-4365)tCt>tGt	p.S1455C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1455					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATCAGAGAGAGAGCCCACTGG	0.478																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(4363-4365)tCt>tGt		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							51	50	50					20																	20493649		1852	4092	5944	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493649G>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4364C>G	20.37:g.20493649G>C	ENSP00000202677:p.Ser1455Cys					RALGAPA2_uc002wry.3_Missense_Mutation_p.S1070C|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	p.S1455C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			31	4507	-			1455					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4364C>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	2.076|2.076	-0.411909|-0.411909	0.04799|0.04799	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.94828	.|-3.53	6.11|6.11	3.13|3.13	0.36017|0.36017	.|.	.|0.630274	.|0.17020	.|N	.|0.190179	D|D	0.89715|0.89715	0.6795|0.6795	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.39181	.|0.239;0.663;0.239	.|B;B;B	.|0.39299	.|0.289;0.296;0.195	T|T	0.79500|0.79500	-0.1778|-0.1778	5|9	.|.	.|.	.|.	.|.	8.9897|8.9897	0.36017|0.36017	0.058:0.2083:0.6268:0.1069|0.058:0.2083:0.6268:0.1069	.|.	.|1293;1455;1455	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	V|C	1272|1455	.|ENSP00000202677:S1455C	.|.	L|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20441649|20441649	0.879000|0.879000	0.30193|0.30193	0.046000|0.046000	0.18839|0.18839	0.048000|0.048000	0.14542|0.14542	2.564000|2.564000	0.45931|0.45931	0.171000|0.171000	0.19730|0.19730	-2.244000|-2.244000	0.00286|0.00286	CTC|TCT		0.478	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		C	20493649	G	C	20493649	3	2	268	1	0	0	0	0	1	0	0	0	13014	942	33	5	1289	5	RALGAPA2	20	20493649	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	18532498	20493649	42531871	50	19152											
RALGAPB	57148	broad.mit.edu	37	chr20	37182634	37182634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgacccagttacggattGcaagcccccgcctcctgccc	6	8	8	19	2	0	1	0	1	0	0	2	2	2	2	7	1	4	2	7	1	2	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:37182634G>A	ENST00000262879.6	+	22	3571	c.3287G>A	c.(3286-3288)tGc>tAc	p.C1096Y	RALGAPB_ENST00000397042.3_Missense_Mutation_p.C1092Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.C874Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.C1096Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1096					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTACGGATTGCAAGCCCCCG	0.478																																						uc002xiw.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3286-3288)tGc>tAc		Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.							97	96	96					20																	37182634		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37182634G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3287G>A	20.37:g.37182634G>A	ENSP00000262879:p.Cys1096Tyr					RALGAPB_uc002xix.3_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.C874Y	p.C1096Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			21	3544	+			1096					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3287G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825523	0.90955	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.64404	1.975	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.77004	0.989;0.989	D	0.95992	0.8986	10	0.62326	D	0.03	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	1092;1096	A2A2E9;Q86X10	.;RLGPB_HUMAN	Y	1096;1092;874;1096;924	ENSP00000262879:C1096Y;ENSP00000380235:C1092Y;ENSP00000380231:C874Y;ENSP00000380233:C1096Y;ENSP00000416646:C924Y	ENSP00000262879:C1096Y	C	+	2	0	RALGAPB	36616048	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.758000	0.94735	0.650000	0.86243	TGC		0.478	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		A	37182634	G	A	37182634	3	1	268	1	0	0	0	0	1	0	0	0	13015	1319	46	3	3369	3	RALGAPB	20	37182634	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	16688985	37182634	25842886	51	19153											
LAMA5	3911	broad.mit.edu	37	chr20	60911477	60911477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcggcccctccacgtgagCccggcacatacagggaacct	8	5	11	17	3	0	1	0	1	0	0	2	2	1	2	5	3	3	2	5	3	2	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:60911477C>T	ENST00000252999.3	-	18	2308	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	748	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCCACGTGAGCCCGGCACATA	0.642																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2242-2244)Gct>Act		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						45	48	47					20																	60911477		2203	4298	6501	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60911477C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2242G>A	20.37:g.60911477C>T	ENSP00000252999:p.Ala748Thr					LAMA5_uc021wfw.1_Missense_Mutation_p.A748T	p.A748T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		17	2309	-	Breast(26;1.57e-08)		748			Laminin EGF-like 9.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2242G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269456	0.40095	.	.	ENSG00000130702	ENST00000252999	T	0.63096	-0.02	4.91	4.91	0.64330	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.255861	0.38605	N	0.001639	T	0.70422	0.3222	L	0.49455	1.56	0.80722	D	1	D	0.57257	0.979	P	0.57846	0.828	T	0.68096	-0.5499	10	0.30854	T	0.27	.	17.7046	0.88305	0.0:1.0:0.0:0.0	.	748	O15230	LAMA5_HUMAN	T	748	ENSP00000252999:A748T	ENSP00000252999:A748T	A	-	1	0	LAMA5	60344872	0.111000	0.22076	0.998000	0.56505	0.056000	0.15407	1.378000	0.34328	2.258000	0.74832	0.462000	0.41574	GCT		0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60911477	C	T	60911477	3	4	268	1	0	0	0	0	1	0	0	0	8609	739	26	3	9097	3	LAMA5	20	60911477	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	23728843	60911477	2114043	52	19154											
APOBEC3F	200316	broad.mit.edu	37	chr22	39448100	39448100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcctgagacccattgtCatgcagaaaggtgcttcctc	9	11	10	11	0	1	2	1	1	0	2	4	4	3	3	3	2	2	2	3	2	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr22:39448100C>A	ENST00000308521.5	+	6	1102	c.745C>A	c.(745-747)Cat>Aat	p.H249N	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	249	CMP/dCMP deaminase zinc-binding 2.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GACCCATTGTCATGCAGAAAG	0.572																																						uc021wpr.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16								Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.							109	116	113					22																	39448100		2203	4297	6500	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39448100C>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.745C>A	22.37:g.39448100C>A	ENSP00000309749:p.His249Asn					APOBEC3F_uc003aww.3_Missense_Mutation_p.H249N		NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN					+	Melanoma(58;0.04)							B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37		CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.388540	0.42308	.	.	ENSG00000128394	ENST00000308521	D	0.96522	-4.04	2.1	2.1	0.27182	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	D	0.98147	0.9388	M	0.93062	3.375	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98059	1.0392	9	0.87932	D	0	.	10.3028	0.43663	0.0:1.0:0.0:0.0	.	249	Q8IUX4	ABC3F_HUMAN	N	249	ENSP00000309749:H249N	ENSP00000309749:H249N	H	+	1	0	APOBEC3F	37778046	0.968000	0.33430	0.023000	0.16930	0.007000	0.05969	4.784000	0.62411	1.505000	0.48720	0.400000	0.26472	CAT		0.572	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		A	39448100	C	A	39448100	3	1	268	1	0	0	0	0	1	0	0	0	793	826	29	5	906	5	APOBEC3F	22	39448100	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		39448100	11856466	53	19155											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685588	125685588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggtcctggCgcagatccaggaaagagacg	9	8	15	9	2	1	2	0	0	1	2	3	5	3	4	2	4	1	3	2	4	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:125685588C>T	ENST00000371126.1	-	1	1246	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597																																						uc022cds.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1003-1005)cGc>cAc		Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.							50	47	48					X																	125685588		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125685588C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1004G>A	X.37:g.125685588C>T	ENSP00000360167:p.Arg335His					DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			0	1004	-			335					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1004G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000198889	ENST00000371126	T	0.67523	-0.27	3.64	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.32802	N	0.005622	T	0.79890	0.4524	M	0.82323	2.585	0.37719	D	0.924847	D	0.89917	1.0	D	0.85130	0.997	T	0.82222	-0.0564	10	0.72032	D	0.01	.	8.5546	0.33474	0.0:0.8793:0.0:0.1207	.	335	Q5VU92	DC121_HUMAN	H	335	ENSP00000360167:R335H	ENSP00000360167:R335H	R	-	2	0	DCAF12L1	125513269	1.000000	0.71417	0.014000	0.15608	0.382000	0.30200	4.631000	0.61304	0.925000	0.37094	0.429000	0.28392	CGC		0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125685588	C	T	125685588	3	4	268	1	0	0	0	0	1	0	0	0	4264	768	27	1	391	1	DCAF12L1	23	125685588	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		125685588	29584972	54	19156											
VAMP7	6845	broad.mit.edu	37	chrX	155169439	155169439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcaagctcactattatCatcatcatcgtatcaattgt	13	14	3	11	1	6	0	6	0	0	0	7	0	6	0	1	0	2	2	1	0	6	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:155169439C>G	ENST00000286448.6	+	7	741	c.576C>G	c.(574-576)atC>atG	p.I192M	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Missense_Mutation_p.I151M|VAMP7_ENST00000262640.6_Missense_Mutation_p.H170D	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	192					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCACTATTATCATCATCATCG	0.333																																						uc004fnr.3																			0				large_intestine(1)|lung(8)	9						c.(574-576)atC>atG		Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.							574	583	580					X																	155169439		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169439C>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.576C>G	X.37:g.155169439C>G	ENSP00000286448:p.Ile192Met					VAMP7_uc011naa.2_Missense_Mutation_p.I153M|VAMP7_uc011nab.2_Missense_Mutation_p.I91M|VAMP7_uc004fnt.3_Missense_Mutation_p.I151M|VAMP7_uc004fns.3_Missense_Mutation_p.H170D|VAMP7_uc011nac.2_Missense_Mutation_p.I125M	p.I192M	NM_005638	NP_005629	P51809	VAMP7_HUMAN			6	754	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		192					Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.576C>G	CCDS14770.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.132|5.132	0.209907|0.209907	0.09757|0.09757	.|.	.|.	ENSG00000124333|ENSG00000124333	ENST00000262640|ENST00000286448;ENST00000460621	T|T;T	0.18338|0.51817	2.22|0.69;0.69	2.99|2.99	2.1|2.1	0.27182|0.27182	.|Synaptobrevin (2);	0.996703|.	0.08134|.	N|.	0.992614|.	T|T	0.52964|0.52964	0.1767|0.1767	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|P;B;P;P	0.34241|0.48350	0.444|0.909;0.152;0.785;0.909	B|P;B;P;P	0.32149|0.57371	0.141|0.819;0.232;0.7;0.772	T|T	0.37314|0.37314	-0.9711|-0.9711	9|8	0.06236|0.35671	T|T	0.91|0.21	.|.	5.8254|5.8254	0.18550|0.18550	0.1872:0.6878:0.0:0.125|0.1872:0.6878:0.0:0.125	.|.	170|125;153;151;192	P51809-2|B4DE96;B4DIH9;P51809-3;P51809	.|.;.;.;VAMP7_HUMAN	D|M	170|192;151	ENSP00000262640:H170D|ENSP00000286448:I192M;ENSP00000427822:I151M	ENSP00000262640:H170D|ENSP00000286448:I192M	H|I	+|+	1|3	0|3	VAMP7|VAMP7	154822633|154822633	1.000000|1.000000	0.71417|0.71417	0.678000|0.678000	0.29963|0.29963	0.009000|0.009000	0.06853|0.06853	2.060000|2.060000	0.41394|0.41394	0.050000|0.050000	0.15949|0.15949	-2.004000|-2.004000	0.00443|0.00443	CAT|ATC		0.333	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		G	155169439	C	G	155169439	3	3	268	1	0	0	0	0	1	0	0	0	17114	826	29	5	598	5	VAMP7	23	155169439	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	29483851	155169439	101121	55	19157											
CYP4B1	1580	broad.mit.edu	37	chr1	47282802	47282802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgccccaggtgtacCgccagctcagcaagcctgtc	7	7	10	17	1	1	0	1	0	0	0	2	0	1	0	6	1	5	3	6	1	2	1	rs576551322		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:47282802C>T	ENST00000271153.4	+	9	1189	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R223C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R386C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R371C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	385					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCAGGTGTACCGCCAGCTCAG	0.572													C|||	1	0.000199681	0	0	5008	,	,		18857	0.001		0	False		,,,				2504	0					uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1156-1158)Cgc>Tgc		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							106	99	101					1																	47282802		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47282802C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1153C>T	1.37:g.47282802C>T	ENSP00000271153:p.Arg385Cys					CYP4B1_uc001cqm.4_Missense_Mutation_p.R385C|CYP4B1_uc009vym.3_Missense_Mutation_p.R371C|CYP4B1_uc010omk.2_Missense_Mutation_p.R222C	p.R386C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			8	1240	+	Acute lymphoblastic leukemia(166;0.155)		385					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1156C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317246	0.60524	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	D;D;T;D;D	0.89485	-2.52;-2.52;-1.45;-2.52;-2.52	5.82	1.96	0.26148	.	0.048597	0.85682	N	0.000000	D	0.93363	0.7884	M	0.94101	3.495	0.80722	D	1	P;D;D	0.55800	0.861;0.967;0.973	P;P;P	0.56865	0.467;0.709;0.808	D	0.91094	0.4909	10	0.87932	D	0	.	6.4258	0.21768	0.1178:0.6517:0.0:0.2305	.	371;386;385	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	386;385;371;223;222	ENSP00000360991:R386C;ENSP00000271153:R385C;ENSP00000360987:R371C;ENSP00000400413:R223C;ENSP00000437670:R222C	ENSP00000271153:R385C	R	+	1	0	CYP4B1	47055389	0.988000	0.35896	0.999000	0.59377	0.976000	0.68499	2.643000	0.46604	0.120000	0.18254	-0.782000	0.03352	CGC		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47282802	C	T	47282802	3	4	269	1	0	0	0	0	1	0	0	0	4185	652	23	2	1190	2	CYP4B1	1	47282802	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		47282802	201967819	1	19158											
PLXNA2	5362	broad.mit.edu	37	chr1	208269395	208269395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggtgggcactgcagttgTaaaacttgaactcggtgctg	8	12	14	7	1	0	1	0	1	0	0	1	1	0	1	0	3	4	6	0	3	3	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:208269395T>G	ENST00000367033.3	-	8	2718	c.1961A>C	c.(1960-1962)tAc>tCc	p.Y654S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	654					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTGCAGTTGTAAAACTTGAA	0.478																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1960-1962)tAc>tCc		Homo sapiens plexin A2 (PLXNA2), mRNA.							295	310	305					1																	208269395		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208269395T>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1961A>C	1.37:g.208269395T>G	ENSP00000356000:p.Tyr654Ser						p.Y654S	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	7	2719	-			654					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1961A>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412264	0.83340	.	.	ENSG00000076356	ENST00000367033	T	0.01272	5.07	5.07	5.07	0.68467	.	0.057842	0.64402	D	0.000001	T	0.08980	0.0222	M	0.86864	2.845	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	T	0.00624	-1.1639	10	0.87932	D	0	.	14.9893	0.71374	0.0:0.0:0.0:1.0	.	654	O75051	PLXA2_HUMAN	S	654	ENSP00000356000:Y654S	ENSP00000356000:Y654S	Y	-	2	0	PLXNA2	206336018	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.683000	0.68189	2.129000	0.65627	0.528000	0.53228	TAC		0.478	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		G	208269395	T	G	208269395	3	3	269	1	0	0	0	0	1	0	0	0	12120	1638	57	5	3823	5	PLXNA2	1	208269395	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	160986593	208269395	40981226	2	19159											
POTEF	728378	broad.mit.edu	37	chr2	130878084	130878084	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaatcaacctcaaccAccatctgcttttaacagcca	13	9	5	14	0	3	0	2	0	1	0	3	1	3	1	4	1	5	2	4	1	4	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:130878084A>C	ENST00000409914.2	-	3	404	c.5T>G	c.(4-6)gTg>gGg	p.V2G	POTEF_ENST00000357462.5_Missense_Mutation_p.V2G|POTEF_ENST00000361163.4_Missense_Mutation_p.V2G|POTEF_ENST00000360967.5_Missense_Mutation_p.V2G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	2					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AACCTCAACCACCATCTGCTT	0.532																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(4-6)gTg>gGg		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							30	30	30					2																	130878084		2141	4214	6355	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130878084A>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.5T>G	2.37:g.130878084A>C	ENSP00000386786:p.Val2Gly						p.V2G	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	405	-			2					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.5T>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.111	0.388647	0.11581	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	D;D;T;T	0.81579	-1.51;-1.51;1.11;1.06	.	.	.	.	.	.	.	.	T	0.63721	0.2535	N	0.17082	0.46	0.09310	N	1	P	0.44006	0.824	B	0.39706	0.307	T	0.56329	-0.7997	7	0.87932	D	0	.	.	.	.	.	2	A5A3E0	POTEF_HUMAN	G	2	ENSP00000350052:V2G;ENSP00000386786:V2G;ENSP00000354232:V2G;ENSP00000355012:V2G	ENSP00000350052:V2G	V	-	2	0	POTEF	130594554	0.003000	0.15002	0.043000	0.18650	0.043000	0.13939	-0.422000	0.07043	0.129000	0.18514	0.128000	0.15822	GTG		0.532	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		C	130878084	A	C	130878084	3	2	269	1	0	0	0	0	1	0	0	0	12265	159	6	5	3282	5	POTEF	2	130878084	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08		130878084	112321289	3	19160											
PRPF40A	55660	broad.mit.edu	37	chr2	153514467	153514467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctttgtctagttctgTctttttcactttcccgatct	4	21	5	11	1	6	1	1	1	5	0	7	2	7	1	1	0	0	1	1	0	1	6	rs369227878		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:153514467T>C	ENST00000410080.1	-	25	3177	c.2636A>G	c.(2635-2637)gAc>gGc	p.D879G		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	906					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCTAGTTCTGTCTTTTTCACT	0.348																																						uc002tyh.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.(2635-2637)gAc>gGc		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.		T	GLY/ASP	0,3626		0,0,1813	215	173	186		2636	5.3	1	2		186	1,8125		0,1,4062	no	missense	PRPF40A	NM_017892.3	94	0,1,5875	CC,CT,TT		0.0123,0.0,0.0085	possibly-damaging	879/931	153514467	1,11751	1813	4063	5876	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153514467T>C	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2636A>G	2.37:g.153514467T>C	ENSP00000386458:p.Asp879Gly					PRPF40A_uc002tyg.4_Missense_Mutation_p.D335G|PRPF40A_uc010zcd.1_Missense_Mutation_p.D830G	p.D879G	NM_017892	NP_060362	O75400	PR40A_HUMAN			24	2658	-			906					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2636A>G	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.738870	0.69304	0.0	1.23E-4	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252	T	0.36340	1.26	5.27	5.27	0.74061	.	0.151201	0.64402	D	0.000014	T	0.32315	0.0825	L	0.53249	1.67	0.58432	D	0.999999	P;P	0.45044	0.849;0.849	B;B	0.37015	0.239;0.239	T	0.16188	-1.0411	10	0.45353	T	0.12	-9.0824	12.8708	0.57965	0.0:0.0:0.0:1.0	.	906;879	O75400;E9PFS0	PR40A_HUMAN;.	G	879;888;775	ENSP00000386458:D879G	ENSP00000348770:D888G	D	-	2	0	PRPF40A	153222713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.589000	0.67523	2.113000	0.64589	0.460000	0.39030	GAC		0.348	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		C	153514467	T	C	153514467	3	2	269	1	0	0	0	0	1	0	0	0	12571	1667	58	4	164	4	PRPF40A	2	153514467	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	22636383	153514467	89684906	4	19161											
CASP10	843	broad.mit.edu	37	chr2	202074219	202074219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctatgtatcctttcGgcatgtggaggaaggcagct	8	10	13	10	1	0	0	0	0	0	0	2	2	1	2	2	5	1	5	2	5	3	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:202074219G>A	ENST00000272879.5	+	9	1533	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	CASP10_ENST00000313728.7_Missense_Mutation_p.R383Q|CASP10_ENST00000286186.6_Missense_Mutation_p.R450Q|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.R407Q|CASP10_ENST00000448480.1_Missense_Mutation_p.R407Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	450					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTATCCTTTCGGCATGTGGAG	0.488																																						uc002uxj.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1348-1350)cGg>cAg		Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.							103	100	101					2																	202074219		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202074219G>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1349G>A	2.37:g.202074219G>A	ENSP00000272879:p.Arg450Gln					CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.R383Q|CASP10_uc002uxk.1_Missense_Mutation_p.R407Q|CASP10_uc002uxl.2_Missense_Mutation_p.R450Q|CASP10_uc002uxm.2_Missense_Mutation_p.R407Q	p.R450Q	NM_032977	NP_116759	Q92851	CASPA_HUMAN			8	1767	+			450					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1349G>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917055	0.92249	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.05	5.05	0.67936	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	H	0.95712	3.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;1.0;1.0;1.0	T	0.75886	-0.3159	10	0.51188	T	0.08	.	18.4485	0.90695	0.0:0.0:1.0:0.0	.	383;407;450;407;450	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	Q	450;450;407;383;407	ENSP00000286186:R450Q;ENSP00000272879:R450Q;ENSP00000237865:R407Q;ENSP00000314599:R383Q;ENSP00000396835:R407Q	ENSP00000272879:R450Q	R	+	2	0	CASP10	201782464	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.961000	0.87903	2.361000	0.80049	0.650000	0.86243	CGG		0.488	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		A	202074219	G	A	202074219	3	1	269	1	0	0	0	0	1	0	0	0	2669	1116	39	2	1379	2	CASP10	2	202074219	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	48559752	202074219	41125154	5	19162											
TRIM71	131405	broad.mit.edu	37	chr3	32859711	32859711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcggggggcggcggcGggggccctggggcggcggcg	0	3	26	12	9	0	0	0	0	0	0	2	0	0	0	1	11	0	0	1	11	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:32859711G>A	ENST00000383763.5	+	1	202	c.139G>A	c.(139-141)Ggg>Agg	p.G47R		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	47					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						gggcggcggcgggggccctgg	0.781																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(139-141)Ggg>Agg		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							5	6	6					3																	32859711		1393	3267	4660	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32859711G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.139G>A	3.37:g.32859711G>A	ENSP00000373272:p.Gly47Arg						p.G47R	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			0	202	+			47						Missense_Mutation	SNP	ENST00000383763.5	37	c.139G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639590	0.29157	.	.	ENSG00000206557	ENST00000383763	D	0.83755	-1.76	4.06	3.17	0.36434	Zinc finger, RING-type (2);	1.125910	0.07004	U	0.823883	T	0.67031	0.2850	N	0.08118	0	0.34180	D	0.670782	B	0.24043	0.096	B	0.08055	0.003	T	0.63972	-0.6516	10	0.56958	D	0.05	.	6.451	0.21903	0.2312:0.0:0.7688:0.0	.	47	Q2Q1W2	LIN41_HUMAN	R	47	ENSP00000373272:G47R	ENSP00000373272:G47R	G	+	1	0	TRIM71	32834715	0.999000	0.42202	0.998000	0.56505	0.251000	0.25915	0.556000	0.23438	0.816000	0.34421	0.462000	0.41574	GGG		0.781	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32859711	G	A	32859711	3	1	269	1	0	0	0	0	1	0	0	0	16541	1116	39	2	141	2	TRIM71	3	32859711	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		32859711	165162719	6	19163											
C3orf67	200844	broad.mit.edu	37	chr3	58870322	58870322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattttatttcagtttggcGaagtttagtcatgtttagca	10	18	9	4	1	2	0	2	0	0	0	2	2	2	0	0	1	1	4	0	1	5	8			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:58870322G>A	ENST00000482387.1	-	3	385	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R17C|C3orf67_ENST00000295966.7_Missense_Mutation_p.R97C|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(289-291)Cgc>Tgc		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							211	202	205					3																	58870322		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58870322G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.289C>T	3.37:g.58870322G>A	ENSP00000417122:p.Arg97Cys					AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R5C	p.R97C	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	6	698	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	97					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	G	20.5	3.995835	0.74703	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	.	0.410282	0.27906	N	0.017375	T	0.61311	0.2337	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.88	T	0.57412	-0.7816	9	.	.	.	-1.7255	16.5603	0.84551	0.0:0.0:1.0:0.0	.	17;97	C9J3M8;Q6ZVT6-2	.;.	C	97;97;17	ENSP00000295966:R97C;ENSP00000417122:R97C;ENSP00000417271:R17C	.	R	-	1	0	C3orf67	58845362	0.998000	0.40836	0.987000	0.45799	0.588000	0.36517	3.374000	0.52402	2.638000	0.89438	0.655000	0.94253	CGC		0.408	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		A	58870322	G	A	58870322	3	1	269	1	0	0	0	0	1	0	0	0	2241	1058	37	2	1442	2	C3orf67	3	58870322	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	26010611	58870322	139152108	7	19164											
ROBO2	6092	broad.mit.edu	37	chr3	77629222	77629222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagaggttgcagctagtaCcagtgcaggggttggagtaa	10	9	17	5	0	0	1	0	0	0	1	0	2	0	2	1	5	4	8	1	5	4	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:77629222C>A	ENST00000461745.1	+	16	3353	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	ROBO2_ENST00000487694.3_Missense_Mutation_p.T834N|ROBO2_ENST00000332191.8_Missense_Mutation_p.T818N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	818	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAGCTAGTACCAGTGCAGGG	0.453																																						uc011bgk.2																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2464-2466)aCc>aAc		Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.							109	110	109					3																	77629222		1920	4130	6050	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77629222C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2453C>A	3.37:g.77629222C>A	ENSP00000417164:p.Thr818Asn					ROBO2_uc021xat.1_Missense_Mutation_p.T834N|ROBO2_uc003dpy.4_Missense_Mutation_p.T818N|ROBO2_uc003dpz.3_Missense_Mutation_p.T822N|ROBO2_uc011bgj.2_Non-coding_Transcript	p.T822N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	16	3108	+			818			Fibronectin type-III 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2465C>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711643	0.89112	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.47869	0.83;0.83;0.83	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41712	U	0.000837	T	0.59418	0.2192	L	0.28458	0.855	0.45227	D	0.998231	D;D;P	0.89917	1.0;0.999;0.926	D;D;P	0.77557	0.99;0.983;0.705	T	0.59621	-0.7420	9	0.49607	T	0.09	.	19.0503	0.93041	0.0:1.0:0.0:0.0	.	834;818;818	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	834;834;838;818;818;539	ENSP00000417335:T834N;ENSP00000417164:T818N;ENSP00000327536:T818N	ENSP00000327536:T818N	T	+	2	0	ROBO2	77711912	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.771000	0.85420	2.591000	0.87537	0.563000	0.77884	ACC		0.453	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77629222	C	A	77629222	3	1	269	1	0	0	0	0	1	0	0	0	13514	507	18	5	2517	5	ROBO2	3	77629222	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	18758900	77629222	120393208	8	19165											
OR5K4	403278	broad.mit.edu	37	chr3	98073062	98073062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgacaatggcctatgaccGctatgtggccatatgccacc	9	8	11	13	2	0	1	0	1	0	0	0	2	0	1	5	3	1	1	5	3	4	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:98073062G>A	ENST00000354924.2	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTATGACCGCTATGTGGCC	0.473																																						uc011bgv.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.							165	164	165					3																	98073062		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073062G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.365G>A	3.37:g.98073062G>A	ENSP00000347003:p.Arg122His						p.R122H	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			0	365	+			122						Missense_Mutation	SNP	ENST00000354924.2	37	c.365G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829249	0.71258	.	.	ENSG00000196098	ENST00000354924	T	0.77489	-1.1	4.77	0.947	0.19555	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33235	U	0.005131	D	0.85745	0.5768	M	0.89353	3.025	0.30848	N	0.73487	D	0.89917	1.0	D	0.67725	0.953	T	0.81581	-0.0867	10	0.66056	D	0.02	-15.4931	5.6427	0.17572	0.2507:0.1435:0.6058:0.0	.	122	A6NMS3	OR5K4_HUMAN	H	122	ENSP00000347003:R122H	ENSP00000347003:R122H	R	+	2	0	OR5K4	99555752	0.700000	0.27796	0.927000	0.36925	0.998000	0.95712	4.083000	0.57643	0.053000	0.16036	0.603000	0.83216	CGC		0.473	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			A	98073062	G	A	98073062	3	1	269	1	0	0	0	0	1	0	0	0	11169	1087	38	1	367	1	OR5K4	3	98073062	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	20443840	98073062	99949368	9	19166											
CCDC80	151887	broad.mit.edu	37	chr3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctacttacaaggagtcttCgtttgccttcaaaggacccc	9	11	9	12	1	2	0	1	0	1	0	3	2	2	2	3	3	3	2	3	3	4	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:112356885C>T	ENST00000206423.3	-	2	2821	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.R623Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	623					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463																																						uc003dzf.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1867-1869)cGa>cAa		Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.							163	157	159					3																	112356885		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112356885C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1868G>A	3.37:g.112356885C>T	ENSP00000206423:p.Arg623Gln					CCDC80_uc011bhv.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.3_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			1	2086	-			623					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1868G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113526	0.77210	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44482	0.92;0.92	6.03	6.03	0.97812	.	0.102891	0.64402	D	0.000005	T	0.65502	0.2697	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.948;0.969;0.969	T	0.64028	-0.6503	10	0.62326	D	0.03	-11.26	20.5596	0.99324	0.0:1.0:0.0:0.0	.	634;623;623	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	Q	623;623;251	ENSP00000206423:R623Q;ENSP00000411814:R623Q	ENSP00000206423:R623Q	R	-	2	0	CCDC80	113839575	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	7.053000	0.76641	2.868000	0.98415	0.555000	0.69702	CGA		0.463	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		T	112356885	C	T	112356885	3	4	269	1	0	0	0	0	1	0	0	0	2854	884	31	2	1012	2	CCDC80	3	112356885	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	14283823	112356885	85665545	10	19167											
PLXND1	23129	broad.mit.edu	37	chr3	129297231	129297231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagccacccgtaggcaCgggtgccaggggtgagagca	8	4	18	11	2	0	1	0	1	0	1	0	3	0	2	3	5	3	3	3	5	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:129297231C>T	ENST00000324093.4	-	9	2465	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M	PLXND1_ENST00000393239.1_Missense_Mutation_p.V763M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	763					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCGTAGGCACGGGTGCCAGG	0.632																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2287-2289)Gtg>Atg		Homo sapiens plexin D1 (PLXND1), mRNA.							32	37	35					3																	129297231		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129297231C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2287G>A	3.37:g.129297231C>T	ENSP00000317128:p.Val763Met						p.V763M	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			8	2387	-			763					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.2287G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	8.303	0.820471	0.16678	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.39997	1.11;1.05	4.62	1.43	0.22495	.	0.796894	0.11646	N	0.543284	T	0.22322	0.0538	N	0.12746	0.255	0.23254	N	0.998035	B	0.14012	0.009	B	0.06405	0.002	T	0.22103	-1.0226	10	0.26408	T	0.33	.	7.4764	0.27378	0.0:0.7278:0.0:0.2722	.	763	Q9Y4D7	PLXD1_HUMAN	M	763	ENSP00000317128:V763M;ENSP00000376931:V763M	ENSP00000317128:V763M	V	-	1	0	PLXND1	130779921	0.023000	0.18921	0.276000	0.24689	0.424000	0.31475	0.067000	0.14510	-0.056000	0.13221	0.561000	0.74099	GTG		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129297231	C	T	129297231	3	4	269	1	0	0	0	0	1	0	0	0	12127	536	19	1	3602	1	PLXND1	3	129297231	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	16940346	129297231	68725199	11	19168											
VPS8	23355	broad.mit.edu	37	chr3	184552450	184552450	+	Frame_Shift_Del	DEL	C	C	-																															ttttcaggaagaagaaattaCctgattctttttcacttcat																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:184552450delC	ENST00000437079.3	+	5	538	c.367delC	c.(367-369)cctfs	p.P123fs	VPS8_ENST00000424463.2_Frame_Shift_Del_p.P123fs|VPS8_ENST00000436792.2_Frame_Shift_Del_p.P123fs|VPS8_ENST00000287546.4_Frame_Shift_Del_p.P123fs|VPS8_ENST00000446204.2_Frame_Shift_Del_p.P123fs	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	123							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAGAAATTACCTGATTCTTT	0.343																																						uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(367-369)cctfs		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.							68	57	60					3																	184552450		1800	4044	5844	SO:0001589	frameshift_variant	23355						zinc ion binding	g.chr3:184552450delC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.367delC	3.37:g.184552450delC	ENSP00000397879:p.Pro123fs					VPS8_uc003fpb.1_Frame_Shift_Del_p.P123fs|VPS8_uc010hyd.1_Frame_Shift_Del_p.P123fs|VPS8_uc003fpc.1_Frame_Shift_Del_p.P123fs	p.P123fs	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		3	455	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		123					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Frame_Shift_Del	DEL	ENST00000437079.3	37	c.367delC	CCDS46971.1																																																																																				0.343	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		-	184552450	C	-	184552450	7	5	269	1	0	1	0	1	0	0	0	0	17215	507	18	0	381	0	VPS8	3	184552450	Frame_Shift_Del	DEL	C	TCGA-76-6280-01A-21D-1845-08	55255219	184552450	13469980	12	19169											
UGT2B10	54569	broad.mit.edu	37	chr4	69874575	69874575	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatattgttctactcacGaaggatcattaattactgtc	15	14	5	7	1	3	0	2	0	1	0	4	2	3	1	0	1	2	1	0	1	7	6	rs201185265		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:69874575G>A								UGT2A3 (57066 upstream) : UGT2B7 (42618 downstream)																							TTCTACTCACGAAGGATCATT	0.368																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.e7+1		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.		A		1,1383		0,1,691	124	94	103			-0.5	0	4		103	1,3177		0,1,1588	yes	intergenic				0,2,2279	AA,AG,GG		0.0315,0.0723,0.0438			69874575	2,4560	692	1589	2281	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69874575G>A																													4.37:g.69874575G>A						UGT2B10_uc011can.1_Splice_Site_p.S308_splice	p.S392_splice			P36537	UDB10_HUMAN			7	1301	-			436						Missense_Mutation	SNP		37	c.1175_splice																																																																																				0	0.368									A	69874575	G	A	69874575	1	1	269	0	1	0	0	0	0	0	0	0	16953	1072	37	2		2	UGT2B10	4	69874575	IGR	SNP	G	TCGA-76-6280-01A-21D-1845-08		69874575	121279701	13	19170											
NDST4	64579	broad.mit.edu	37	chr4	115891587	115891587	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaataaaatgtgctcaccAgtgcaaattccttgttgaga	14	11	7	9	0	1	1	1	1	0	1	2	2	2	1	2	0	2	3	2	0	4	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:115891587A>G	ENST00000264363.2	-	4	1898	c.1220T>C	c.(1219-1221)cTg>cCg	p.L407P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	407	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGCTCACCAGTGCAAATTC	0.393																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.e4+1		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							107	97	101					4																	115891587		2203	4300	6503	SO:0001630	splice_region_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891587A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1221+1T>C	4.37:g.115891587A>G						NDST4_uc010imw.3_Splice_Site	p.L407_splice	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1900	-		Ovarian(17;0.156)	407			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1221_splice	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874683	0.51695	.	.	ENSG00000138653	ENST00000264363	T	0.38077	1.16	5.49	5.49	0.81192	.	0.068943	0.64402	D	0.000014	T	0.42471	0.1204	M	0.63428	1.95	0.80722	D	1	P	0.41366	0.747	P	0.46419	0.516	T	0.26360	-1.0105	10	0.33940	T	0.23	.	11.0235	0.47732	0.8611:0.0:0.0:0.1389	.	407	Q9H3R1	NDST4_HUMAN	P	407	ENSP00000264363:L407P	ENSP00000264363:L407P	L	-	2	0	NDST4	116111036	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.771000	0.68881	2.205000	0.71048	0.482000	0.46254	CTG		0.393	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	Missense_Mutation	G	115891587	A	G	115891587	5	3	269	1	0	0	0	0	0	0	1	0	10258	202	7	4	1442	4	NDST4	4	115891587	Splice_Site	SNP	A	TCGA-76-6280-01A-21D-1845-08	46017012	115891587	75262689	14	19171											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058293	41058293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcccgtgggccttaaCgatgctcaaagtctgtacag	8	9	13	11	3	2	0	1	0	1	0	2	1	2	0	2	2	3	2	2	2	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:41058293C>T	ENST00000399564.4	-	7	1078	c.628G>A	c.(628-630)Gtt>Att	p.V210I	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	210																	TGGGCCTTAACGATGCTCAAA	0.512																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(628-630)Gtt>Att		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							53	51	51					5																	41058293		1919	4131	6050	SO:0001583	missense	133558						binding	g.chr5:41058293C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.628G>A	5.37:g.41058293C>T	ENSP00000382476:p.Val210Ile					HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.V210I	p.V210I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	1118	-			210					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.628G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.479077	0.00165	.	.	ENSG00000171495	ENST00000399564	T	0.04502	3.61	5.03	-4.19	0.03835	Armadillo-type fold (1);	1.014600	0.07909	N	0.973924	T	0.01523	0.0049	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49934	-0.8886	10	0.07990	T	0.79	.	12.6433	0.56721	0.0:0.3518:0.0:0.6482	.	210	Q7Z745	HTRB2_HUMAN	I	210	ENSP00000382476:V210I	ENSP00000382476:V210I	V	-	1	0	HEATR7B2	41094050	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.823000	0.01710	-1.064000	0.03172	-1.884000	0.00543	GTT		0.512	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41058293	C	T	41058293	3	4	269	1	0	0	0	0	1	0	0	0	7035	536	19	1	4273	1	HEATR7B2	5	41058293	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		41058293	139856967	15	19172											
PIK3R1	5295	broad.mit.edu	37	chr5	67589634	67589635	+	In_Frame_Ins	INS	-	-	ATATGAAGA																															agtcgagaatatgatagattINSatatgaagaatatacccgca																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:67589634_67589635insATATGAAGA	ENST00000521381.1	+	11	2013_2014	c.1397_1398insATATGAAGA	c.(1396-1401)ttatat>ttATATGAAGAatat	p.470_471insEEY	PIK3R1_ENST00000521657.1_In_Frame_Ins_p.470_471insEEY|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.107_108insEEY|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.170_171insEEY|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.470_471insEEY|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.200_201insEEY|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.470_471insEEY	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	470					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATGATAGATTATATGAAGAAT	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.D434_Q475del(2)|p.Y463_L466del(1)|p.Y467_E468insGEYDRLYE(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1396-1398)tta>ttATATGAAGAa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589634_67589635insATATGAAGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1398_1406dupATATGAAGA	5.37:g.67589635_67589643dupATATGAAGA	ENSP00000428056:p.Glu468_Tyr470dup	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Ins_p.169_170insYEE|PIK3R1_uc003jvd.3_In_Frame_Ins_p.199_200insYEE|PIK3R1_uc003jve.3_In_Frame_Ins_p.148_149insYEE|PIK3R1_uc021xzn.1_In_Frame_Ins_p.106_107insYEE|PIK3R1_uc011crb.2_In_Frame_Ins_p.139_140insYEE	p.469_470insYEE	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1977_1978	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	469					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1397_1398insATATGAAGA	CCDS3993.1																																																																																				0.287	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		ATATGAAGA	67589635	-	ATATGAAGA	67589634	7	5	269	1	0	1	1	0	0	0	0	0	11918	1764	61	0	1565	0	PIK3R1	5	67589634	In_Frame_Ins	INS	-	TCGA-76-6280-01A-21D-1845-08	26531341	67589634	113325626	16	19173											
PKHD1	5314	broad.mit.edu	37	chr6	51491840	51491840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcccttgtgattctcGgcgtttggatgagatgtgga	5	15	15	6	2	1	2	0	2	1	1	2	5	1	4	1	4	0	1	1	4	0	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51491840G>A	ENST00000371117.3	-	66	12015	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3914					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATTCTCGGCGTTTGGAT	0.438																																						uc003pah.1																			0		p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11740-11742)Cga>Tga		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							286	273	277					6																	51491840		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491840G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11740C>T	6.37:g.51491840G>A	ENSP00000360158:p.Arg3914*						p.R3914*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	12016	-	Lung NSC(77;0.0605)		3914					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.11740C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	52	20.029402	0.99926	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.0	2.01	0.26516	.	0.715664	0.11956	N	0.513223	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4241	0.27088	0.0:0.1596:0.4874:0.353	.	.	.	.	X	3914	.	ENSP00000360158:R3914X	R	-	1	2	PKHD1	51599799	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.126000	0.31344	0.297000	0.22615	-0.182000	0.12963	CGA		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51491840	G	A	51491840	4	1	269	1	0	0	0	0	0	1	0	0	11971	1124	39	2	492	2	PKHD1	6	51491840	Nonsense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		51491840	119623227	17	19174											
PKHD1	5314	broad.mit.edu	37	chr6	51918008	51918008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggagatccccgaagcaaCgcacacaagtctcccagagg	12	4	11	14	2	1	2	0	0	1	2	3	4	2	2	3	2	2	3	3	2	3	0	rs200497761		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51918008C>T	ENST00000371117.3	-	21	2281	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_ENST00000340994.4_Missense_Mutation_p.R669H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	669					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCGAAGCAACGCACACAAGT	0.582													C|||	1	0.000199681	0	0	5008	,	,		19054	0.001		0	False		,,,				2504	0					uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2005-2007)cGt>cAt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	67	66	66		2006,2006	-2.8	0	6		66	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	669/4075,669/3397	51918008	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918008C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2006G>A	6.37:g.51918008C>T	ENSP00000360158:p.Arg669His					PKHD1_uc003pai.3_Missense_Mutation_p.R669H	p.R669H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			20	2282	-	Lung NSC(77;0.0605)		669					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2006G>A	CCDS4935.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.89	1.477036	0.26511	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.63	-2.82	0.05787	.	1.078920	0.07004	N	0.823948	T	0.48150	0.1484	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.0	T	0.37842	-0.9688	10	0.25106	T	0.35	.	8.5168	0.33250	0.1115:0.2467:0.0:0.6417	.	669;669	P08F94-2;P08F94	.;PKHD1_HUMAN	H	669	ENSP00000360158:R669H;ENSP00000341097:R669H	ENSP00000341097:R669H	R	-	2	0	PKHD1	52025967	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.435000	0.02423	-0.509000	0.06532	0.655000	0.94253	CGT		0.582	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51918008	C	T	51918008	3	4	269	1	0	0	0	0	1	0	0	0	11971	536	19	1	10445	1	PKHD1	6	51918008	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	426168	51918008	119197059	18	19175											
PKHD1	5314	broad.mit.edu	37	chr6	51941107	51941107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggataaacttggtgaaCgatgggtgtctgcgccttgg	7	12	16	6	2	1	1	0	1	1	0	1	3	1	2	1	5	3	0	1	5	3	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51941107C>T	ENST00000371117.3	-	6	690	c.415G>A	c.(415-417)Gtt>Att	p.V139I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V139I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	139	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V139I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTTGGTGAACGATGGGTGTC	0.393																																						uc003pah.1																			1	Substitution - Missense(1)	p.V139I(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(415-417)Gtt>Att		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							105	108	107					6																	51941107		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51941107C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.415G>A	6.37:g.51941107C>T	ENSP00000360158:p.Val139Ile					PKHD1_uc003pai.3_Missense_Mutation_p.V139I	p.V139I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	691	-	Lung NSC(77;0.0605)		139			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.415G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040648	0.08196	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.61;-1.79	5.74	2.81	0.32909	.	0.422418	0.22311	N	0.061737	T	0.43831	0.1265	N	0.16307	0.4	0.21325	N	0.999724	B;B	0.18310	0.027;0.016	B;B	0.13407	0.009;0.004	T	0.33394	-0.9870	10	0.20046	T	0.44	.	5.0439	0.14473	0.1696:0.648:0.0:0.1823	.	139;139	P08F94-2;P08F94	.;PKHD1_HUMAN	I	139	ENSP00000360158:V139I;ENSP00000341097:V139I	ENSP00000341097:V139I	V	-	1	0	PKHD1	52049066	1.000000	0.71417	0.811000	0.32455	0.470000	0.32858	1.570000	0.36439	0.356000	0.24157	0.650000	0.86243	GTT		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51941107	C	T	51941107	3	4	269	1	0	0	0	0	1	0	0	0	11971	536	19	1	12096	1	PKHD1	6	51941107	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	23099	51941107	119173960	19	19176											
VGLL2	245806	broad.mit.edu	37	chr6	117589651	117589651	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagctctgggccctggCgaggtgagtatagggccctg	7	7	17	10	1	1	1	0	1	1	0	1	3	1	2	2	5	1	2	2	5	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:117589651C>T	ENST00000326274.5	+	2	578	c.388C>T	c.(388-390)Cga>Tga	p.R130*	VGLL2_ENST00000352536.3_Nonsense_Mutation_p.R130*	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	130					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TGGGCCCTGGCGAGGTGAGTA	0.567																																						uc003pxn.3																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(388-390)Cga>Tga		Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.							18	17	18					6																	117589651		2198	4299	6497	SO:0001587	stop_gained	245806				transcription, DNA-dependent	nucleus		g.chr6:117589651C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.388C>T	6.37:g.117589651C>T	ENSP00000320957:p.Arg130*					VGLL2_uc003pxo.3_Nonsense_Mutation_p.R130*	p.R130*	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	594	+			130					Q8WWX1	Nonsense_Mutation	SNP	ENST00000326274.5	37	c.388C>T	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817006	0.90790	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	.	.	.	5.43	-7.18	0.01505	.	0.253060	0.31784	N	0.007061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1232	22.1793	0.99968	0.7736:0.2264:0.0:0.0	.	.	.	.	X	130	.	ENSP00000320957:R130X	R	+	1	2	VGLL2	117696344	0.965000	0.33210	0.910000	0.35882	0.682000	0.39822	0.043000	0.13971	-1.034000	0.03295	-0.181000	0.13052	CGA		0.567	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		T	117589651	C	T	117589651	4	4	269	1	0	0	0	0	0	1	0	0	17156	760	27	1	394	1	VGLL2	6	117589651	Nonsense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	65648544	117589651	53525416	20	19177											
IGF2R	3482	broad.mit.edu	37	chr6	160506085	160506085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgggctgctctgaaaggGccagcatttgcagaaggacc	9	7	13	12	0	1	2	0	1	1	1	1	3	1	3	3	3	3	4	3	3	2	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:160506085G>A	ENST00000356956.1	+	41	6275	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2043					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCTGAAAGGGCCAGCATTTG	0.517																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6127-6129)Gcc>Acc		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							55	51	53					6																	160506085		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160506085G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6127G>A	6.37:g.160506085G>A	ENSP00000349437:p.Ala2043Thr						p.A2043T	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	40	6275	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2043					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6127G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766991	0.69878	.	.	ENSG00000197081	ENST00000356956	T	0.33438	1.41	5.91	5.91	0.95273	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	M	0.80616	2.505	0.80722	D	1	D	0.60160	0.987	P	0.58721	0.844	T	0.39800	-0.9596	10	0.49607	T	0.09	-17.4743	12.5706	0.56334	0.0749:0.0:0.9251:0.0	.	2043	P11717	MPRI_HUMAN	T	2043	ENSP00000349437:A2043T	ENSP00000349437:A2043T	A	+	1	0	IGF2R	160426075	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	6.986000	0.76200	2.793000	0.96121	0.655000	0.94253	GCC		0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160506085	G	A	160506085	3	1	269	1	0	0	0	0	1	0	0	0	7576	1203	42	3	6289	3	IGF2R	6	160506085	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	42916434	160506085	10608982	21	19178											
ZPBP	11055	broad.mit.edu	37	chr7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatattttagttgaagacGtttaacaatttcttccacag	13	15	6	7	1	1	2	0	1	1	1	2	2	2	2	1	0	2	3	1	0	5	8	rs200427468		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:50097612G>A	ENST00000046087.2	-	4	529	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_ENST00000419417.1_Missense_Mutation_p.R153C|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	154					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													G|||	1	0.000199681	0	0	5008	,	,		18844	0		0	False		,,,				2504	0.001					uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(460-462)Cgt>Tgt		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77	78	78		457,460	4.5	0.6	7		78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	ZPBP	NM_001159878.1,NM_007009.2	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/351,154/352	50097612	1,13003	2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097612G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.460C>T	7.37:g.50097612G>A	ENSP00000046087:p.Arg154Cys					ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	p.R154C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	530	-	Glioma(55;0.08)|all_neural(89;0.245)		154					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.460C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202157	0.38905	0.0	1.16E-4	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.56444	0.46;0.46	5.66	4.51	0.55191	Immunoglobulin-like (1);	0.542661	0.18129	N	0.150789	T	0.46308	0.1386	N	0.22421	0.69	0.40301	D	0.978604	D;D	0.65815	0.995;0.995	P;P	0.51229	0.663;0.663	T	0.30880	-0.9963	9	.	.	.	-8.2369	10.6887	0.45858	0.0:0.0:0.169:0.831	.	153;154	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	154;153	ENSP00000046087:R154C;ENSP00000402071:R153C	.	R	-	1	0	ZPBP	50068158	0.993000	0.37304	0.619000	0.29118	0.297000	0.27493	2.770000	0.47662	0.971000	0.38288	-0.467000	0.05162	CGT		0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		A	50097612	G	A	50097612	3	1	269	1	0	0	0	0	1	0	0	0	18216	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		50097612	109041051	22	19179											
GRM8	2918	broad.mit.edu	37	chr7	126173900	126173900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctgcagacagacgcCgggtgagtatgttctctatg	8	9	15	9	2	1	3	0	1	1	2	2	3	1	3	1	3	1	5	1	3	2	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:126173900C>T	ENST00000339582.2	-	9	2344	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	GRM8_ENST00000358373.3_Silent_p.P512P|GRM8_ENST00000444921.2_Silent_p.P512P|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	512					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGACAGACGCCGGGTGAGTAT	0.488										HNSCC(24;0.065)																												uc003vlr.2																			0		p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1534-1536)ccG>ccA		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						56	59	58					7																	126173900		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173900C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1536G>A	7.37:g.126173900C>T		HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.P512P|GRM8_uc010lkz.1_Non-coding_Transcript	p.P512P	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	1847	-		Prostate(267;0.186)	512					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1536G>A	CCDS5794.1																																																																																				0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126173900	C	T	126173900	2	4	269	1	0	0	0	0	0	0	0	1	6803	639	23	2		2	GRM8	7	126173900	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	76076288	126173900	32964763	23	19180											
SPTAN1	6709	broad.mit.edu	37	chr9	131381157	131381157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtaattaggggtcagCggctggaagagtccttggaa	9	10	14	8	1	1	1	1	0	0	1	3	3	3	3	2	5	1	2	2	5	4	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:131381157C>T	ENST00000372731.4	+	43	5703	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1870W|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R1870W	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1865					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TAGGGGTCAGCGGCTGGAAGA	0.438																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(5593-5595)Cgg>Tgg		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.							88	88	88					9																	131381157		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131381157C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5593C>T	9.37:g.131381157C>T	ENSP00000361816:p.Arg1865Trp					SPTAN1_uc004bvm.4_Missense_Mutation_p.R1870W|SPTAN1_uc004bvn.4_Missense_Mutation_p.R1845W	p.R1865W	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			42	5735	+			1865					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5593C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479992	0.84747	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.46063	0.88;0.88;0.88	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.967;0.988;0.993	T	0.65651	-0.6116	10	0.87932	D	0	.	15.0444	0.71816	0.142:0.858:0.0:0.0	.	1845;1870;1865	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	W	1870;1865;1870;1845;114	ENSP00000350882:R1870W;ENSP00000361816:R1865W;ENSP00000361824:R1870W	ENSP00000350882:R1870W	R	+	1	2	SPTAN1	130420978	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.721000	0.61951	2.788000	0.95919	0.650000	0.86243	CGG		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131381157	C	T	131381157	3	4	269	1	0	0	0	0	1	0	0	0	15116	759	27	1	5778	1	SPTAN1	9	131381157	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		131381157	9832274	24	19181											
CACNA1B	774	broad.mit.edu	37	chr9	140777224	140777224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccctatttcatcgggaTcttttgcttcgaggcaggga	7	12	13	9	2	2	0	1	0	1	0	4	4	2	3	1	4	2	2	1	4	1	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:140777224T>C	ENST00000371372.1	+	3	564	c.419T>C	c.(418-420)aTc>aCc	p.I140T	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I140T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.I140T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I140T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I140T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCATCGGGATCTTTTGCTTC	0.572																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(418-420)aTc>aCc		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						150	158	156					9																	140777224		2072	4201	6273	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140777224T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.419T>C	9.37:g.140777224T>C	ENSP00000360423:p.Ile140Thr					AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.I140T	p.I140T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	2	564	+	all_cancers(76;0.166)		140					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.419T>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438725	0.43326	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	H	0.96889	3.9	0.80722	D	1	P	0.50819	0.939	P	0.53988	0.739	D	0.98914	1.0781	10	0.87932	D	0	.	14.2005	0.65699	0.0:0.0:0.0:1.0	.	140	B1AQK6	.	T	140	ENSP00000360423:I140T;ENSP00000277551:I140T;ENSP00000360414:I140T;ENSP00000360408:I140T;ENSP00000360406:I140T	ENSP00000277551:I140T	I	+	2	0	CACNA1B	139897045	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	7.858000	0.86971	1.757000	0.51966	0.383000	0.25322	ATC		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		C	140777224	T	C	140777224	3	2	269	1	0	0	0	0	1	0	0	0	2539	1435	50	4	429	4	CACNA1B	9	140777224	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	9396067	140777224	436207	25	19182											
CACNB2	783	broad.mit.edu	37	chr10	18828173	18828173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggttctcaaggtgaTcagaggactgatcgctccgc	8	9	13	11	2	2	3	2	2	1	1	5	4	3	4	2	3	1	2	2	3	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:18828173T>C	ENST00000324631.7	+	14	1563	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D	CACNB2_ENST00000352115.6_Silent_p.D477D|CACNB2_ENST00000377329.4_Silent_p.D447D|CACNB2_ENST00000282343.8_Silent_p.D473D|CACNB2_ENST00000377331.2_Silent_p.D449D|CACNB2_ENST00000377319.3_Silent_p.D408D|CACNB2_ENST00000377315.4_Silent_p.D453D|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000396576.2_Silent_p.D446D|CACNB2_ENST00000377328.1_Silent_p.D251D|RP11-499P20.2_ENST00000436485.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	501				D -> H (in Ref. 5; AAD33729/AAD33730). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCAAGGTGATCAGAGGACTG	0.527																																						uc001ipr.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1501-1503)gaT>gaC		Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						99	90	93					10																	18828173		2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828173T>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1503T>C	10.37:g.18828173T>C						CACNB2_uc001ipt.2_Silent_p.D463D|CACNB2_uc009xjz.1_Silent_p.D251D|CACNB2_uc001ips.2_Silent_p.D477D|CACNB2_uc001ipu.3_Silent_p.D473D|CACNB2_uc001ipv.3_Silent_p.D449D|CACNB2_uc009xka.2_Silent_p.D435D|CACNB2_uc001ipw.2_Silent_p.D408D|CACNB2_uc001ipx.2_Silent_p.D446D|CACNB2_uc001ipz.2_Silent_p.D423D|CACNB2_uc001ipy.2_Silent_p.D447D|CACNB2_uc010qco.1_Silent_p.D415D|CACNB2_uc001iqa.2_Silent_p.D453D|NSUN6_uc001iqb.3_Non-coding_Transcript	p.D501D	NM_201596	NP_963890	Q08289	CACB2_HUMAN			13	1563	+			501	D -> H (in Ref. 3; AAD33729/AAD33730).				A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.1503T>C	CCDS7125.1																																																																																				0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		C	18828173	T	C	18828173	2	2	269	1	0	0	0	0	0	0	0	1	2553	1432	50	4		4	CACNB2	10	18828173	Silent	SNP	T	TCGA-76-6280-01A-21D-1845-08		18828173	116706574	26	19183											
ACTA2	59	broad.mit.edu	37	chr10	90707027	90707027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccataccttttccatgtcGtcccagttggtgatgatgcc	6	14	8	13	1	0	2	0	2	0	0	4	2	3	2	5	1	2	1	5	1	1	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:90707027G>A	ENST00000458208.1	-	3	720	c.246C>T	c.(244-246)gaC>gaT	p.D82D	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.D82D|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	82					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTCCATGTCGTCCCAGTTGG	0.502																																						uc001kfp.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.(244-246)gaC>gaT		Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.							349	280	303					10																	90707027		2203	4300	6503	SO:0001819	synonymous_variant	59				response to virus	cytosol	ATP binding	g.chr10:90707027G>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.246C>T	10.37:g.90707027G>A						STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Silent_p.D37D|ACTA2_uc001kfq.3_Silent_p.D82D|ACTA2_uc010qmz.1_Silent_p.D82D	p.D82D	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	2	362	-		Colorectal(252;0.0161)	82					B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	ENST00000458208.1	37	c.246C>T	CCDS7392.1																																																																																				0.502	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		A	90707027	G	A	90707027	2	1	269	1	0	0	0	0	0	0	0	1	192	1136	40	1		1	ACTA2	10	90707027	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	71878854	90707027	44827720	27	19184											
HTR7	3363	broad.mit.edu	37	chr10	92616992	92616992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgtccaaagatccacttgCccccgatgaggtcggtgacg	9	8	12	12	3	0	3	0	2	0	1	3	4	2	3	4	2	1	0	4	2	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:92616992C>T	ENST00000336152.3	-	1	463	c.437G>A	c.(436-438)gGc>gAc	p.G146D	HTR7_ENST00000277874.6_Missense_Mutation_p.G146D|HTR7_ENST00000371719.2_Missense_Mutation_p.G146D|HTR7_ENST00000371721.3_Missense_Mutation_p.G146D	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	146					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCACTTGCCCCCGATGAG	0.592																																						uc001kha.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(436-438)gGc>gAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						69	58	61					10																	92616992		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92616992C>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.437G>A	10.37:g.92616992C>T	ENSP00000337949:p.Gly146Asp					HTR7_uc001kgz.3_Missense_Mutation_p.G146D|HTR7_uc001khb.3_Missense_Mutation_p.G146D	p.G146D	NM_019859	NP_062873	P34969	5HT7R_HUMAN			0	680	-			146					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.437G>A	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930705	0.92389	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.86849	0.2022	10	0.56958	D	0.05	.	18.2215	0.89903	0.0:1.0:0.0:0.0	.	146;146	P34969;P34969-2	5HT7R_HUMAN;.	D	146	ENSP00000337949:G146D;ENSP00000277874:G146D;ENSP00000360784:G146D;ENSP00000360786:G146D	ENSP00000277874:G146D	G	-	2	0	HTR7	92606972	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.082000	0.71318	2.309000	0.77851	0.563000	0.77884	GGC		0.592	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		T	92616992	C	T	92616992	3	4	269	1	0	0	0	0	1	0	0	0	7452	739	26	3	1022	3	HTR7	10	92616992	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	1909965	92616992	42917755	28	19185											
OR52N1	79473	broad.mit.edu	37	chr11	5809262	5809262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccccaaaatggtgtgtaAagaaggtaaagaaggctgga	15	7	13	6	0	0	2	0	0	0	2	1	3	1	3	2	4	0	3	2	4	8	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:5809262A>G	ENST00000317078.1	-	1	784	c.785T>C	c.(784-786)tTt>tCt	p.F262S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGGTGTGTAAAGAAGGTAAA	0.453																																						uc010qzo.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(784-786)tTt>tCt		Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.							168	157	161					11																	5809262		2125	4094	6219	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809262A>G	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.785T>C	11.37:g.5809262A>G	ENSP00000322823:p.Phe262Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.F262S	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	0	785	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	262					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.785T>C	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516022	0.64634	.	.	ENSG00000181001	ENST00000317078	T	0.38722	1.12	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000586	T	0.61702	0.2368	M	0.65975	2.015	0.32637	N	0.521219	D	0.89917	1.0	D	0.85130	0.997	T	0.72676	-0.4221	10	0.87932	D	0	.	13.4223	0.61005	1.0:0.0:0.0:0.0	.	262	Q8NH53	O52N1_HUMAN	S	262	ENSP00000322823:F262S	ENSP00000322823:F262S	F	-	2	0	OR52N1	5765838	0.870000	0.30015	0.999000	0.59377	0.651000	0.38670	5.780000	0.68956	2.088000	0.63022	0.491000	0.48974	TTT		0.453	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		G	5809262	A	G	5809262	3	3	269	1	0	0	0	0	1	0	0	0	11127	14	1	4	180	4	OR52N1	11	5809262	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08		5809262	129197254	29	19186											
NAV2	89797	broad.mit.edu	37	chr11	20065785	20065785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggacgaagccttcaGccccggcaggcgcactgaag	10	4	13	14	3	1	1	1	1	0	0	1	3	1	2	4	3	3	2	4	3	3	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:20065785G>A	ENST00000396087.3	+	14	3334	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T	NAV2_ENST00000527559.2_Missense_Mutation_p.A1008T|NAV2_ENST00000533917.1_Missense_Mutation_p.A142T|NAV2_ENST00000540292.1_Missense_Mutation_p.A1010T|NAV2_ENST00000349880.4_Missense_Mutation_p.A1056T|NAV2_ENST00000360655.4_Missense_Mutation_p.A992T|NAV2_ENST00000396085.1_Missense_Mutation_p.A1056T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.A142T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1079					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCCTTCAGCCCCGGCAGG	0.567																																						uc010rdm.2																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3235-3237)Gcc>Acc		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							42	39	40					11																	20065785		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20065785G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3235G>A	11.37:g.20065785G>A	ENSP00000379396:p.Ala1079Thr					NAV2_uc001mpp.3_Missense_Mutation_p.A992T|NAV2_uc001mpr.4_Missense_Mutation_p.A1056T|NAV2_uc021qew.1_Missense_Mutation_p.A1056T|NAV2_uc001mpt.2_Missense_Mutation_p.A142T|NAV2_uc009yhx.3_Missense_Mutation_p.A142T|NAV2_uc009yhy.1_Missense_Mutation_p.A55T	p.A1079T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			13	3596	+			1079					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3235G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036747	0.54896	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.29655	1.64;1.74;1.75;1.74;1.64;1.63;3.27;1.95;1.56;3.27	5.51	3.65	0.41850	.	0.133458	0.38005	N	0.001843	T	0.14874	0.0359	N	0.11427	0.14	0.39775	D	0.972214	B;B;B;B;B	0.12013	0.005;0.003;0.004;0.002;0.004	B;B;B;B;B	0.13407	0.006;0.004;0.009;0.003;0.005	T	0.09314	-1.0680	9	.	.	.	.	9.8041	0.40781	0.2248:0.0:0.7752:0.0	.	1079;142;142;1056;992	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	T	992;1056;1056;1079;1008;1010;142;142;142;142;142	ENSP00000353871:A992T;ENSP00000379394:A1056T;ENSP00000309577:A1056T;ENSP00000379396:A1079T;ENSP00000435395:A1008T;ENSP00000443489:A1010T;ENSP00000437316:A142T;ENSP00000437136:A142T;ENSP00000431276:A142T;ENSP00000312169:A142T	.	A	+	1	0	NAV2	20022361	0.679000	0.27596	0.753000	0.31225	0.529000	0.34654	1.006000	0.29847	1.339000	0.45563	-0.136000	0.14681	GCC		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	20065785	G	A	20065785	3	1	269	1	0	0	0	0	1	0	0	0	10184	971	34	3	3325	3	NAV2	11	20065785	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	14256523	20065785	114940731	30	19187											
TM7SF2	7108	broad.mit.edu	37	chr11	64882420	64882420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggatatcacacatgaCgggtttggcttcatgctggc	9	11	11	10	1	2	1	2	1	0	0	2	2	2	2	1	4	1	3	1	4	1	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:64882420C>T	ENST00000279263.7	+	7	921	c.759C>T	c.(757-759)gaC>gaT	p.D253D	TM7SF2_ENST00000345348.5_Silent_p.D253D|TM7SF2_ENST00000540748.1_Silent_p.D137D|AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	253					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCACACATGACGGGTTTGGCT	0.627																																						uc001ocv.3																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(820-822)gaC>gaT		Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.							189	198	195					11																	64882420		2111	4227	6338	SO:0001819	synonymous_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64882420C>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.759C>T	11.37:g.64882420C>T						TM7SF2_uc001oct.3_Silent_p.D253D|TM7SF2_uc010rny.2_Silent_p.D137D|TM7SF2_uc001ocu.3_Silent_p.D253D|BC104003_uc009yqb.1_5'Flank	p.D274D	NM_003273	NP_003264	O76062	ERG24_HUMAN			4	1419	+			253					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	c.822C>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866603	0.17250	.	.	ENSG00000149809	ENST00000528802	.	.	.	5.23	-6.76	0.01732	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51004	-0.8760	4	.	.	.	-16.9462	7.6018	0.28079	0.218:0.1474:0.0:0.6346	.	.	.	.	M	81	.	.	T	+	2	0	TM7SF2	64638996	0.576000	0.26700	0.451000	0.26982	0.989000	0.77384	-0.264000	0.08658	-1.247000	0.02507	-0.367000	0.07326	ACG		0.627	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		T	64882420	C	T	64882420	2	4	269	1	0	0	0	0	0	0	0	1	15971	535	19	1		1	TM7SF2	11	64882420	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	44816635	64882420	70124096	31	19188											
KCNE3	10008	broad.mit.edu	37	chr11	74168386	74168386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgtatcccaggatgaGgctgcccacagttacagcaa	10	7	13	11	1	0	1	0	1	0	0	1	2	1	2	2	3	3	4	2	3	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:74168386G>A	ENST00000310128.4	-	3	642	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	KCNE3_ENST00000525550.1_Missense_Mutation_p.L75F|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	75					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCCAGGATGAGGCTGCCCACA	0.512																																						uc021qng.1																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(223-225)Ctc>Ttc		Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.							65	57	60					11																	74168386		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168386G>A	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.223C>T	11.37:g.74168386G>A	ENSP00000310557:p.Leu75Phe					KCNE3_uc001ovc.3_Missense_Mutation_p.L75F|KCNE3_uc001ovd.2_Missense_Mutation_p.L75F	p.L75F	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN			0	223	-	Breast(11;2.86e-06)		75						Missense_Mutation	SNP	ENST00000310128.4	37	c.223C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517770	0.85495	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.92911	-3.13;-3.13;-3.13	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000004	D	0.95211	0.8447	M	0.64997	1.995	0.50171	D	0.999856	D	0.76494	0.999	D	0.91635	0.999	D	0.95312	0.8413	10	0.72032	D	0.01	-3.6473	16.3252	0.82977	0.0:0.0:1.0:0.0	.	75	Q9Y6H6	KCNE3_HUMAN	F	75	ENSP00000310557:L75F;ENSP00000433633:L75F;ENSP00000431739:L75F	ENSP00000310557:L75F	L	-	1	0	KCNE3	73846034	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.449000	0.52950	2.714000	0.92807	0.561000	0.74099	CTC		0.512	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		A	74168386	G	A	74168386	3	1	269	1	0	0	0	0	1	0	0	0	8024	1000	35	3	92	3	KCNE3	11	74168386	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	9285966	74168386	60838130	32	19189											
HIP1R	9026	broad.mit.edu	37	chr12	123339938	123339938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagcacagggccccccGcgggggagccagtggtgagc	8	3	17	13	2	1	2	1	1	0	1	1	3	1	3	4	4	3	1	4	4	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:123339938G>A	ENST00000253083.4	+	11	1104	c.979G>A	c.(979-981)Gcg>Acg	p.A327T		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	327					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGGGCCCCCCGCGGGGGAGCC	0.677																																						uc001udj.1																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(979-981)Gcg>Acg		Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.							8	10	9					12																	123339938		2141	4247	6388	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123339938G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.979G>A	12.37:g.123339938G>A	ENSP00000253083:p.Ala327Thr					HIP1R_uc001udg.1_Missense_Mutation_p.A315T|HIP1R_uc001udi.1_Missense_Mutation_p.A327T|HIP1R_uc001udk.1_5'Flank	p.A327T	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	10	1038	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		327					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.979G>A	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	2.352	-0.348593	0.05208	.	.	ENSG00000130787	ENST00000253083	T	0.14640	2.49	4.57	1.72	0.24424	.	1.071350	0.07093	N	0.839017	T	0.11324	0.0276	L	0.39898	1.24	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.08055	0.003;0.001;0.003	T	0.43782	-0.9370	10	0.13853	T	0.58	-0.8579	7.9175	0.29827	0.4301:0.0:0.5699:0.0	.	327;327;315	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	T	327	ENSP00000253083:A327T	ENSP00000253083:A327T	A	+	1	0	HIP1R	121905891	0.033000	0.19621	0.000000	0.03702	0.002000	0.02628	1.020000	0.30027	0.063000	0.16370	0.563000	0.77884	GCG		0.677	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		A	123339938	G	A	123339938	3	1	269	1	0	0	0	0	1	0	0	0	7115	1087	38	1	1021	1	HIP1R	12	123339938	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		123339938	10511957	33	19190											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233260	24233260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacacggcgctggctgccGttatctgcagcgctctggcc	4	8	15	14	4	2	0	0	0	2	0	2	1	2	1	2	4	3	5	2	4	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:24233260G>A	ENST00000382258.4	+	6	721	c.517G>A	c.(517-519)Gtt>Att	p.V173I	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.V173I|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.V41I|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.V173I	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	173					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GCTGGCTGCCGTTATCTGCAG	0.577																																						uc001uov.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(517-519)Gtt>Att		Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.							61	58	59					13																	24233260		2203	4299	6502	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24233260G>A	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.517G>A	13.37:g.24233260G>A	ENSP00000371693:p.Val173Ile					TNFRSF19_uc001uot.3_Missense_Mutation_p.V173I|TNFRSF19_uc010tcu.2_Missense_Mutation_p.V41I|TNFRSF19_uc001uow.3_Missense_Mutation_p.V173I	p.V173I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	721	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	173					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.517G>A	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387268	0.25031	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.62	3.89	0.44902	.	0.106984	0.64402	N	0.000005	T	0.20820	0.0501	L	0.46157	1.445	0.31830	N	0.624795	B;P;P	0.42941	0.141;0.674;0.794	B;B;B	0.31614	0.038;0.133;0.133	T	0.06991	-1.0796	10	0.42905	T	0.14	-26.7307	15.1772	0.72924	0.1282:0.0:0.8718:0.0	.	41;173;173	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	I	173;41;173;173	ENSP00000248484:V173I;ENSP00000385408:V41I;ENSP00000371693:V173I;ENSP00000371698:V173I	ENSP00000248484:V173I	V	+	1	0	TNFRSF19	23131260	1.000000	0.71417	0.010000	0.14722	0.134000	0.20937	5.430000	0.66501	0.340000	0.23745	-0.797000	0.03246	GTT		0.577	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		A	24233260	G	A	24233260	3	1	269	1	0	0	0	0	1	0	0	0	16289	1145	40	1	535	1	TNFRSF19	13	24233260	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		24233260	90936618	34	19191											
COG6	57511	broad.mit.edu	37	chr13	40268775	40268775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatattttaataggttcGaattgagcaagtaatagttg	14	15	8	4	1	1	1	1	1	0	0	2	2	1	1	0	1	1	4	0	1	7	9			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:40268775G>T	ENST00000455146.3	+	12	1129	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	COG6_ENST00000416691.1_Missense_Mutation_p.R360L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	360					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274																																						uc001uxh.2																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1078-1080)cGa>cTa		Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.							45	53	50					13																	40268775		2201	4280	6481	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40268775G>T	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1079G>T	13.37:g.40268775G>T	ENSP00000397441:p.Arg360Leu					COG6_uc001uxi.2_Missense_Mutation_p.R308L|COG6_uc010acb.2_Missense_Mutation_p.R360L	p.R360L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	11	1179	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	360					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1079G>T	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477090	0.84640	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.73047	-0.71;-0.71	5.8	4.96	0.65561	.	0.061928	0.64402	D	0.000004	D	0.86422	0.5929	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89177	0.3541	10	0.87932	D	0	-6.7191	14.0641	0.64817	0.0721:0.0:0.9279:0.0	.	381;360	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	L	360;391;360	ENSP00000403733:R360L;ENSP00000397441:R360L	ENSP00000255468:R391L	R	+	2	0	COG6	39166775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	1.459000	0.47892	0.655000	0.94253	CGA		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			T	40268775	G	T	40268775	3	4	269	1	0	0	0	0	1	0	0	0	3662	1058	37	5	1125	5	COG6	13	40268775	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16035515	40268775	74901103	35	19192											
DGKH	160851	broad.mit.edu	37	chr13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgccgttgtagctgatgCcgtggccagtaaagtaagag	12	9	13	7	2	0	2	0	1	0	1	0	2	0	2	3	1	3	5	3	1	5	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:42761271C>T	ENST00000337343.4	+	14	1646	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000379274.2_Missense_Mutation_p.A406V|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V|DGKH_ENST00000261491.5_Missense_Mutation_p.A542V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	542					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A542V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423																																						uc001uyl.2																			1	Substitution - Missense(1)	p.A542V(2)	prostate(1)	breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1624-1626)gCc>gTc		Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.							110	122	118					13																	42761271		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761271C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1625C>T	13.37:g.42761271C>T	ENSP00000337572:p.Ala542Val					DGKH_uc010tfh.2_Missense_Mutation_p.A542V|DGKH_uc001uym.2_Missense_Mutation_p.A542V|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.A297V|DGKH_uc001uyo.2_Missense_Mutation_p.A406V|DGKH_uc010tfj.2_Missense_Mutation_p.A406V|DGKH_uc001uyp.3_Non-coding_Transcript	p.A542V	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	13	1692	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	542					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1625C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	7.300	0.612818	0.14066	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.79845	-1.31;-1.13;-1.31;-1.3;-1.3;1.93	5.57	5.57	0.84162	.	0.337778	0.31554	N	0.007454	T	0.74496	0.3724	L	0.38531	1.155	0.48040	D	0.999576	B;B;B;B	0.16802	0.0;0.0;0.019;0.0	B;B;B;B	0.17098	0.003;0.007;0.017;0.002	T	0.67738	-0.5593	10	0.19590	T	0.45	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	297;406;542;542	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	542;542;542;406;406;297	ENSP00000440823:A542V;ENSP00000337572:A542V;ENSP00000261491:A542V;ENSP00000368576:A406V;ENSP00000445114:A406V;ENSP00000441308:A297V	ENSP00000261491:A542V	A	+	2	0	DGKH	41659271	0.019000	0.18553	0.352000	0.25734	0.011000	0.07611	2.418000	0.44662	2.630000	0.89119	0.655000	0.94253	GCC		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		T	42761271	C	T	42761271	3	4	269	1	0	0	0	0	1	0	0	0	4470	739	26	3	1679	3	DGKH	13	42761271	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	2492496	42761271	72408607	36	19193											
OR4K1	79544	broad.mit.edu	37	chr14	20404282	20404282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttcctgggcggtgggcGttcttcattctgtgagccac	4	14	12	11	2	3	1	1	1	2	0	4	1	4	1	2	3	1	1	2	3	1	5	rs200187960		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:20404282G>A	ENST00000285600.4	+	1	516	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCGGTGGGCGTTCTTCATTC	0.453																																						uc001vwj.2																			0		p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(457-459)Gtt>Att		Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.		A	ILE/VAL	2,4404		0,2,2201	144	138	140		457	2.2	0.9	14		140	4,8596		0,4,4296	yes	missense	OR4K1	NM_001004063.2	29	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign	153/312	20404282	6,13000	2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404282G>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.457G>A	14.37:g.20404282G>A	ENSP00000285600:p.Val153Ile						p.V153I	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	0	516	+	all_cancers(95;0.00108)		153					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.457G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	6.537	0.467342	0.12402	4.54E-4	4.65E-4	ENSG00000155249	ENST00000285600	T	0.00099	8.73	4.82	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.109902	0.40728	N	0.001021	T	0.00073	0.0002	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12142	-1.0559	10	0.28530	T	0.3	.	3.8122	0.08801	0.5793:0.0:0.0931:0.3276	.	153	Q8NGD4	OR4K1_HUMAN	I	153	ENSP00000285600:V153I	ENSP00000285600:V153I	V	+	1	0	OR4K1	19474122	0.000000	0.05858	0.939000	0.37840	0.729000	0.41735	-0.106000	0.10890	0.316000	0.23135	-0.360000	0.07572	GTT		0.453	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			A	20404282	G	A	20404282	3	1	269	1	0	0	0	0	1	0	0	0	11067	1145	40	1	459	1	OR4K1	14	20404282	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		20404282	86945258	37	19194											
NIN	51199	broad.mit.edu	37	chr14	51239180	51239180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacgtcgtccactctcatCgaaagactggaaggaggaag	12	7	13	9	3	1	1	1	0	1	1	5	5	2	4	1	4	1	1	1	4	4	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:51239180C>T	ENST00000382041.3	-	9	1010	c.820G>A	c.(820-822)Gat>Aat	p.D274N	NIN_ENST00000530997.2_Missense_Mutation_p.D274N|NIN_ENST00000382043.4_Missense_Mutation_p.D274N|NIN_ENST00000453196.1_Missense_Mutation_p.D274N|NIN_ENST00000389868.3_Missense_Mutation_p.D274N|NIN_ENST00000324330.9_Missense_Mutation_p.D274N|NIN_ENST00000245441.5_Missense_Mutation_p.D274N	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	274					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCACTCTCATCGAAAGACTGG	0.502			T	PDGFRB	MPD																																	uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(820-822)Gat>Aat		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							89	72	78					14																	51239180		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239180C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.820G>A	14.37:g.51239180C>T	ENSP00000371472:p.Asp274Asn					NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.D274N|NIN_uc001wyk.3_Missense_Mutation_p.D274N|NIN_uc001wyo.3_Missense_Mutation_p.D274N|NIN_uc001wyp.1_Missense_Mutation_p.D236N	p.D274N	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			8	1011	-	all_epithelial(31;0.00244)|Breast(41;0.127)		274					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.820G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110571	0.94292	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	D;T;D;T;D;D;T	0.95756	-3.8;-0.35;-3.8;1.91;-3.8;-3.8;1.91	5.55	5.55	0.83447	EF-hand-like domain (1);	0.091527	0.64402	D	0.000001	D	0.96706	0.8925	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.996;0.996	D	0.97262	0.9905	10	0.72032	D	0.01	-23.6586	18.4857	0.90828	0.0:1.0:0.0:0.0	.	280;274;274;274;274	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	N	274;274;274;274;280;274;274;274;236	ENSP00000245441:D274N;ENSP00000374518:D274N;ENSP00000371474:D274N;ENSP00000371472:D274N;ENSP00000324210:D274N;ENSP00000412391:D274N;ENSP00000398641:D236N	ENSP00000245441:D274N	D	-	1	0	NIN	50308930	1.000000	0.71417	0.983000	0.44433	0.622000	0.37654	7.487000	0.81328	2.613000	0.88420	0.563000	0.77884	GAT		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51239180	C	T	51239180	3	4	269	1	0	0	0	0	1	0	0	0	10417	884	31	2	5821	2	NIN	14	51239180	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	30834898	51239180	56110360	38	19195											
SYT16	83851	broad.mit.edu	37	chr14	62567295	62567295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaggcgtactatgaagcGtaaagagatgattggctgga	14	9	13	5	2	0	3	0	2	0	1	0	5	0	4	0	3	3	3	0	3	6	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:62567295G>A	ENST00000430451.2	+	6	2005	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	603	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.R583H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACTATGAAGCGTAAAGAGATG	0.483																																						uc001xfu.1																			1	Substitution - Missense(1)	p.R583H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1807-1809)cGt>cAt		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							104	105	105					14																	62567295		2036	4182	6218	SO:0001583	missense	83851							g.chr14:62567295G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1808G>A	14.37:g.62567295G>A	ENSP00000394700:p.Arg603His					SYT16_uc010tse.1_Missense_Mutation_p.R161H	p.R603H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	2005	+			603			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1808G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351401	0.95830	.	.	ENSG00000139973	ENST00000430451	T	0.73152	-0.72	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.83168	-0.0095	10	0.36615	T	0.2	.	19.1089	0.93309	0.0:0.0:1.0:0.0	.	603	Q17RD7	SYT16_HUMAN	H	603	ENSP00000394700:R603H	ENSP00000394700:R603H	R	+	2	0	SYT16	61637048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.507000	0.81676	2.520000	0.84964	0.655000	0.94253	CGT		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		A	62567295	G	A	62567295	3	1	269	1	0	0	0	0	1	0	0	0	15469	1145	40	1	1830	1	SYT16	14	62567295	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	11328115	62567295	44782245	39	19196											
DCAF5	8816	broad.mit.edu	37	chr14	69520671	69520671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggccatgaacagccCtgctactatctgtggctggg	7	10	12	12	0	1	1	0	1	1	0	1	1	1	1	2	3	4	2	2	3	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:69520671C>T	ENST00000341516.5	-	9	2879	c.2732G>A	c.(2731-2733)aGg>aAg	p.R911K	DCAF5_ENST00000556847.1_Missense_Mutation_p.R829K|DCAF5_ENST00000554215.1_Missense_Mutation_p.R829K|DCAF5_ENST00000557386.1_Missense_Mutation_p.R910K|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	911					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAACAGCCCTGCTACTATC	0.473																																						uc001xkp.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(2731-2733)aGg>aAg		Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.							76	82	80					14																	69520671		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69520671C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2732G>A	14.37:g.69520671C>T	ENSP00000341351:p.Arg911Lys					DCAF5_uc001xkq.3_Missense_Mutation_p.R910K	p.R911K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			8	2951	-			911					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.2732G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145589	0.09134	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.66815	-0.23;-0.05;-0.05;0.39	5.24	4.34	0.51931	.	0.232336	0.37348	N	0.002125	T	0.38295	0.1035	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29761	-1.0001	10	0.02654	T	1	-11.2967	5.4204	0.16398	0.0:0.6583:0.0:0.3417	.	910;911	G3V4J7;Q96JK2	.;DCAF5_HUMAN	K	911;829;829;910	ENSP00000341351:R911K;ENSP00000451551:R829K;ENSP00000452052:R829K;ENSP00000451845:R910K	ENSP00000341351:R911K	R	-	2	0	DCAF5	68590424	0.999000	0.42202	1.000000	0.80357	0.894000	0.52154	1.464000	0.35288	1.419000	0.47118	0.561000	0.74099	AGG		0.473	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		T	69520671	C	T	69520671	3	4	269	1	0	0	0	0	1	0	0	0	4273	681	24	3	100	3	DCAF5	14	69520671	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	6953376	69520671	37828869	40	19197											
EIF2AK4	440275	broad.mit.edu	37	chr15	40280263	40280263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccgtcagactctggaggcTttttcgagagattctggatg	8	12	12	9	2	3	2	1	0	2	2	4	6	3	4	1	3	0	1	1	3	0	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:40280263T>C	ENST00000263791.5	+	15	2526	c.2483T>C	c.(2482-2484)cTt>cCt	p.L828P	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.L800P	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	828	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTCTGGAGGCTTTTTCGAGAG	0.393																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2482-2484)cTt>cCt		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							136	128	131					15																	40280263		1886	4098	5984	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40280263T>C	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2483T>C	15.37:g.40280263T>C	ENSP00000263791:p.Leu828Pro					EIF2AK4_uc010bbj.1_Missense_Mutation_p.L529P	p.L828P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	14	2533	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	828			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2483T>C	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671396	0.88348	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.26957	1.7;1.7	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58323	-0.7656	10	0.87932	D	0	-15.7613	15.8221	0.78662	0.0:0.0:0.0:1.0	.	828	Q9P2K8	E2AK4_HUMAN	P	828;800	ENSP00000263791:L828P;ENSP00000372174:L800P	ENSP00000263791:L828P	L	+	2	0	EIF2AK4	38067555	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.680000	0.84062	2.226000	0.72624	0.482000	0.46254	CTT		0.393	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			C	40280263	T	C	40280263	3	2	269	1	0	0	0	0	1	0	0	0	4999	1609	56	4	2541	4	EIF2AK4	15	40280263	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08		40280263	62251129	41	19198											
EHD4	30844	broad.mit.edu	37	chr15	42193062	42193062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatctccttcttggcGttgacacctgatatcttgcc	6	14	7	14	1	4	2	1	2	3	0	5	2	4	2	4	1	1	1	4	1	1	5	rs201800565		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:42193062G>A	ENST00000220325.4	-	6	1490	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	469	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592																																						uc001zot.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1405-1407)aaC>aaT		Homo sapiens EH-domain containing 4 (EHD4), mRNA.							91	74	80					15																	42193062		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193062G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1407C>T	15.37:g.42193062G>A							p.N469N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	469			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1407C>T	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		A	42193062	G	A	42193062	2	1	269	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	1912799	42193062	60338330	42	19199											
CYP19A1	1588	broad.mit.edu	37	chr15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggataatgtttgtccccTttttcactgggtagccatcg	7	15	9	10	1	2	0	2	0	0	0	4	1	3	1	3	2	1	2	3	2	2	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTGTCCCCTTTTTCACTGG	0.413																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.4																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1168-1170)aAg>aGg		Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						190	173	179					15																	51504611		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51504611T>C	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1169A>G	15.37:g.51504611T>C	ENSP00000379683:p.Lys390Arg					CYP19A1_uc001zza.4_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1420	-			390					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1169A>G	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	CYP19A1	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG		0.413	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			C	51504611	T	C	51504611	3	2	269	1	0	0	0	0	1	0	0	0	4148	1609	56	4	350	4	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	9311549	51504611	51026781	43	19200											
CYP1A2	1544	broad.mit.edu	37	chr15	75045612	75045612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtcaaccatgacccGtgagtacatacccctcacga	11	7	9	14	2	2	2	2	2	0	0	2	3	2	2	4	2	3	2	4	2	3	2	rs56107638	byFrequency	TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:75045612G>A	ENST00000343932.4	+	6	1316		c.e6+1			NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2						alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	ACCATGACCCGTGAGTACATA	0.493																																						uc002ayr.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33	GRCh37	CS034693	CYP1A2	S	rs56107638	c.e6+1		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	G		0,4394		0,0,2197	99	72	81			5	1	15	dbSNP_129	81	2,8590	2.2+/-6.3	0,2,4294	no	splice-5	CYP1A2	NM_000761.3		0,2,6491	AA,AG,GG		0.0233,0.0,0.0154			75045612	2,12984	2197	4296	6493	SO:0001630	splice_region_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75045612G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1253+1G>A	15.37:g.75045612G>A							p.P418_splice	NM_000761	NP_000752	P05177	CP1A2_HUMAN			6	1317	+			418					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Splice_Site	SNP	ENST00000343932.4	37	c.1253_splice	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618278	0.46736	0.0	2.33E-4	ENSG00000140505	ENST00000343932	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4789	0.90804	0.0:0.0:1.0:0.0	rs56107638;rs57702151	.	.	.	.	-1	.	.	.	+	.	.	CYP1A2	72832665	1.000000	0.71417	0.999000	0.59377	0.187000	0.23431	9.391000	0.97249	2.610000	0.88304	0.442000	0.29010	.		0.493	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	Intron	A	75045612	G	A	75045612	5	1	269	1	0	0	0	0	0	0	1	0	4150	1159	40	1	1272	1	CYP1A2	15	75045612	Splice_Site	SNP	G	TCGA-76-6280-01A-21D-1845-08	23541001	75045612	27485780	44	19201											
SV2B	9899	broad.mit.edu	37	chr15	91801746	91801746	+	Missense_Mutation	SNP	C	C	A																															gcaccgtgtccatggtggccCtgaagttcatgccagagagc																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801746C>A	ENST00000394232.1	+	5	1350	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	SV2B_ENST00000330276.4_Missense_Mutation_p.L294M|SV2B_ENST00000545111.2_Missense_Mutation_p.L143M	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	294					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CATGGTGGCCCTGAAGTTCAT	0.567																																						uc002bqv.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(880-882)Ctg>Atg		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.							163	128	140					15																	91801746		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91801746C>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.880C>A	15.37:g.91801746C>A	ENSP00000377779:p.Leu294Met					SV2B_uc002bqt.3_Missense_Mutation_p.L294M|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.L143M	p.L294M	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		5	1771	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		294					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.880C>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767382	0.69878	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.61274	0.12;0.12;0.12	5.29	0.0118	0.14089	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.523759	0.20291	N	0.095240	T	0.66548	0.2800	M	0.63169	1.94	0.50813	D	0.999899	D	0.89917	1.0	D	0.85130	0.997	T	0.62826	-0.6772	10	0.62326	D	0.03	-13.1204	6.1407	0.20259	0.0:0.5899:0.1249:0.2852	.	294	Q7L1I2	SV2B_HUMAN	M	143;294;294	ENSP00000443243:L143M;ENSP00000377779:L294M;ENSP00000332818:L294M	ENSP00000332818:L294M	L	+	1	2	SV2B	89602750	0.977000	0.34250	0.977000	0.42913	0.974000	0.67602	2.485000	0.45250	-0.171000	0.10797	-0.126000	0.14955	CTG		0.567	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		A	91801746	C	A	91801746	3	1	269	1	0	0	0	0	1	0	0	0	15415	680	24	5	894	5	SV2B	15	91801746	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	16756134	91801746	10729646	45	19202	26	2									
SV2B	9899	broad.mit.edu	37	chr15	91801750	91801750	+	Missense_Mutation	SNP	A	A	G																															cgtgtccatggtggccctgaAgttcatgccagagagcccaa																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801750A>G	ENST00000394232.1	+	5	1354	c.884A>G	c.(883-885)aAg>aGg	p.K295R	SV2B_ENST00000330276.4_Missense_Mutation_p.K295R|SV2B_ENST00000545111.2_Missense_Mutation_p.K144R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	295					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGGCCCTGAAGTTCATGCCA	0.567																																						uc002bqv.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(883-885)aAg>aGg		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.							161	127	138					15																	91801750		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91801750A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.884A>G	15.37:g.91801750A>G	ENSP00000377779:p.Lys295Arg					SV2B_uc002bqt.3_Missense_Mutation_p.K295R|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.K144R	p.K295R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		5	1775	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		295					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.884A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.107928	0.37242	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.74209	-0.82;-0.82;-0.82	5.29	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.557738	0.19887	N	0.103840	T	0.58250	0.2109	N	0.25201	0.72	0.39642	D	0.970331	B	0.06786	0.001	B	0.10450	0.005	T	0.50684	-0.8799	10	0.24483	T	0.36	-10.5545	9.2631	0.37625	0.9067:0.0:0.0933:0.0	.	295	Q7L1I2	SV2B_HUMAN	R	144;295;295	ENSP00000443243:K144R;ENSP00000377779:K295R;ENSP00000332818:K295R	ENSP00000332818:K295R	K	+	2	0	SV2B	89602754	0.990000	0.36364	1.000000	0.80357	0.990000	0.78478	1.344000	0.33941	0.903000	0.36546	0.533000	0.62120	AAG		0.567	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		G	91801750	A	G	91801750	3	3	269	1	0	0	0	0	1	0	0	0	15415	72	3	4	898	4	SV2B	15	91801750	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08	4	91801750	10729642	46	19203	26	2									
RNF40	9810	broad.mit.edu	37	chr16	30783282	30783282	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagagagcttcaacctCaagagggctcaggtgtgtgc	12	7	14	8	0	3	3	3	0	0	3	3	5	3	3	1	2	3	2	1	2	3	1	rs549348940		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:30783282C>A	ENST00000324685.6	+	18	3150	c.2715C>A	c.(2713-2715)ctC>ctA	p.L905L	RNF40_ENST00000402121.3_Silent_p.L597L|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Silent_p.L805L|RNF40_ENST00000563683.1_Silent_p.L865L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	905					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTTCAACCTCAAGAGGGCTC	0.647																																						uc002dzq.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2713-2715)ctC>ctA		Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.							32	31	32					16																	30783282		2196	4299	6495	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30783282C>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2715C>A	16.37:g.30783282C>A						RNF40_uc010caa.3_Silent_p.L905L|RNF40_uc010cab.3_Silent_p.L805L|RNF40_uc010vfa.2_Silent_p.L237L|RNF40_uc010vfb.2_Silent_p.L597L|RNF40_uc002dzr.3_Silent_p.L905L|RNF40_uc010vfc.1_Silent_p.L237L	p.L905L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		17	3535	+			905					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.2715C>A	CCDS10691.1																																																																																				0.647	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30783282	C	A	30783282	2	1	269	1	0	0	0	0	0	0	0	1	13493	813	29	5		5	RNF40	16	30783282	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08		30783282	59571471	47	19204											
MMP15	4324	broad.mit.edu	37	chr16	58079116	58079116	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggacagcgcagagggCgacgtgggggatggggatgg	7	3	25	6	4	0	1	0	0	0	1	0	5	0	4	0	9	1	1	0	9	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:58079116C>T	ENST00000219271.3	+	10	2561	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	592					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GCGCAGAGGGCGACGTGGGGG	0.736																																						uc002ena.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1774-1776)ggC>ggT		Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.							25	31	29					16																	58079116		2183	4261	6444	SO:0001819	synonymous_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58079116C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1776C>T	16.37:g.58079116C>T							p.G592G	NM_002428	NP_002419	P51511	MMP15_HUMAN			9	2749	+			592					A0A2U6|Q14111	Silent	SNP	ENST00000219271.3	37	c.1776C>T	CCDS10792.1																																																																																				0.736	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		T	58079116	C	T	58079116	2	4	269	1	0	0	0	0	0	0	0	1	9654	755	27	1		1	MMP15	16	58079116	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	27295834	58079116	32275637	48	19205											
ATP2C2	9914	broad.mit.edu	37	chr16	84449185	84449185	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccggatccctgcagacatCcgactcactgaggtgagtgg	9	7	13	12	2	1	3	1	2	0	1	3	6	3	4	3	3	1	1	3	3	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:84449185C>A	ENST00000262429.4	+	7	701	c.612C>A	c.(610-612)atC>atA	p.I204I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I204I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	204					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGCAGACATCCGACTCACTG	0.507																																						uc010chj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(610-612)atC>atA		Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.							85	83	83					16																	84449185		1951	4152	6103	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84449185C>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.612C>A	16.37:g.84449185C>A						ATP2C2_uc002fhx.3_Silent_p.I204I|ATP2C2_uc002fhy.3_Silent_p.I221I|ATP2C2_uc002fhz.3_Silent_p.I53I	p.I204I	NM_014861	NP_055676	O75185	AT2C2_HUMAN			6	701	+			204					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.612C>A	CCDS42207.1																																																																																				0.507	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		A	84449185	C	A	84449185	2	1	269	1	0	0	0	0	0	0	0	1	1144	845	30	5		5	ATP2C2	16	84449185	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	26370069	84449185	5905568	49	19206											
TRPV2	51393	broad.mit.edu	37	chr17	16323552	16323552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtacctcaccgactcGgaatacacaggtagaccctg	13	6	9	13	2	1	1	1	0	0	1	2	3	1	2	3	2	3	3	3	2	5	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:16323552G>A	ENST00000338560.7	+	3	723	c.324G>A	c.(322-324)tcG>tcA	p.S108S	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	108	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.S108S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCACCGACTCGGAATACACAG	0.582																																						uc002gpy.3																			1	Substitution - coding silent(1)	p.S108S(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(322-324)tcG>tcA		Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.							100	96	97					17																	16323552		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16323552G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.324G>A	17.37:g.16323552G>A						TRPV2_uc002gpz.3_5'UTR	p.S108S	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	723	+			108			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.324G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	9.260	1.042910	0.19748	.	.	ENSG00000187688	ENST00000455666	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.45397	0.1340	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	T	0.56050	-0.8043	4	.	.	.	-26.6961	8.1609	0.31198	0.5664:0.0:0.1156:0.318	.	.	.	.	R	66	.	.	G	+	1	0	TRPV2	16264277	0.000000	0.05858	0.134000	0.22075	0.891000	0.51852	-3.994000	0.00318	-2.369000	0.00603	-1.105000	0.02106	GGA		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		A	16323552	G	A	16323552	2	1	269	1	0	0	0	0	0	0	0	1	16593	1103	39	2		2	TRPV2	17	16323552	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08		16323552	64871658	50	19207											
MAP2K3	5606	broad.mit.edu	37	chr17	21201792	21201792	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcacccaaccccacGtgagtctgcctcagtttctc	7	8	6	20	2	3	1	1	1	2	0	4	1	3	1	6	0	2	2	6	0	1	1	rs368105298		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:21201792G>A	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577																																						uc002gys.3																			0											c.e2+1		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.		G	,	1,4405		0,1,2202	202	174	183		,	5.7	1	17		183	0,8600		0,0,4300	no	splice-5,splice-5	MAP2K3	NM_002756.4,NM_145109.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,	21201792	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201792G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.116+1G>A	17.37:g.21201792G>A						MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	p.T39_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	381	+			39					B3KSK7|Q99441|Q9UE71|Q9UE72	Splice_Site	SNP	ENST00000342679.4	37	c.116_splice	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353219	0.82132	2.27E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8621	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K3	21142385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.020000	0.49643	2.837000	0.97791	0.655000	0.94253	.		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	Intron	A	21201792	G	A	21201792	5	1	269	1	0	0	0	0	0	0	1	0	9238	1159	40	1	123	1	MAP2K3	17	21201792	Splice_Site	SNP	G	TCGA-76-6280-01A-21D-1845-08	4878240	21201792	59993418	51	19208											
TMEM132E	124842	broad.mit.edu	37	chr17	32953325	32953325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcccttcgtggtgttcCagaccaaggagctgccggtc	6	8	13	14	3	0	1	0	0	0	1	3	3	1	2	5	3	3	2	5	3	1	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:32953325C>A	ENST00000321639.5	+	2	575	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	83						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGTGGTGTTCCAGACCAAGGA	0.697																																						uc002hif.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(247-249)Cag>Aag		Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.							27	24	25					17																	32953325		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32953325C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.247C>A	17.37:g.32953325C>A	ENSP00000316532:p.Gln83Lys						p.Q83K	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	1	575	+			83					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.247C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687273	0.48097	.	.	ENSG00000181291	ENST00000321639	T	0.08546	3.08	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	N	0.25957	0.775	0.37207	D	0.904637	B	0.32573	0.376	B	0.29598	0.104	T	0.08932	-1.0698	10	0.02654	T	1	-23.6545	17.0902	0.86620	0.0:1.0:0.0:0.0	.	83	Q6IEE7	T132E_HUMAN	K	83	ENSP00000316532:Q83K	ENSP00000316532:Q83K	Q	+	1	0	TMEM132E	29977438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.652000	0.54439	2.255000	0.74692	0.549000	0.68633	CAG		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		A	32953325	C	A	32953325	3	1	269	1	0	0	0	0	1	0	0	0	16045	595	21	5	253	5	TMEM132E	17	32953325	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	11751533	32953325	48241885	52	19209											
MAPT	4137	broad.mit.edu	37	chr17	44067273	44067273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcctctgctaaaaccttGaaaaataggccttgccttag	11	12	7	11	1	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	6	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:44067273G>A	ENST00000571987.1	+	7	1212	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.L404L|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Silent_p.L404L|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.L404L|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	404					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTAAAACCTTGAAAAATAGGC	0.463																																						uc002ijr.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1210-1212)ttG>ttA		Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.							214	220	218					17																	44067273		2203	4300	6503	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44067273G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1212G>A	17.37:g.44067273G>A						MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	p.L404L	NM_016835	NP_058519	P10636	TAU_HUMAN			7	1534	+		Melanoma(429;0.216)	404					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.1212G>A	CCDS11501.1																																																																																				0.463	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		A	44067273	G	A	44067273	2	1	269	1	0	0	0	0	0	0	0	1	9297	1281	45	3		3	MAPT	17	44067273	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	11113948	44067273	37127937	53	19210											
KIF2B	84643	broad.mit.edu	37	chr17	51901778	51901778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacaaccaaggccagcCggaaaaggcagctggaaggg	15	2	14	10	1	0	1	0	0	0	1	0	3	0	3	3	5	4	2	3	5	6	1	rs370597263		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:51901778C>T	ENST00000268919.4	+	1	1540	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	462	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAGGCCAGCCGGAAAAGGCA	0.488																																						uc002iua.2																			0		p.S461T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1384-1386)Cgg>Tgg		Homo sapiens kinesin family member 2B (KIF2B), mRNA.		C	TRP/ARG	0,4406		0,0,2203	47	44	45		1384	2.2	1	17		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF2B	NM_032559.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	462/674	51901778	1,13005	2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901778C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1384C>T	17.37:g.51901778C>T	ENSP00000268919:p.Arg462Trp					KIF2B_uc010wna.1_Non-coding_Transcript	p.R462W	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	1540	+			462			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1384C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036309	0.35893	0.0	1.16E-4	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.18174	2.23	5.73	2.23	0.28157	Kinesin, motor domain (4);	0.000000	0.40385	N	0.001117	T	0.51466	0.1676	H	0.94964	3.605	0.39140	D	0.962022	D	0.89917	1.0	D	0.79784	0.993	T	0.70135	-0.4955	10	0.87932	D	0	.	14.5528	0.68078	0.6006:0.3994:0.0:0.0	.	462	Q8N4N8	KIF2B_HUMAN	W	462;350	ENSP00000268919:R462W	ENSP00000268919:R462W	R	+	1	2	KIF2B	49256777	0.997000	0.39634	0.988000	0.46212	0.057000	0.15508	0.812000	0.27211	0.700000	0.31782	0.655000	0.94253	CGG		0.488	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51901778	C	T	51901778	3	4	269	1	0	0	0	0	1	0	0	0	8298	643	23	2	1386	2	KIF2B	17	51901778	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	7834505	51901778	29293432	54	19211											
CLTC	1213	broad.mit.edu	37	chr17	57738898	57738898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttcagtactttggtatccTtttggaccagggacagctca	9	13	9	10	0	2	0	2	0	0	0	3	2	3	2	2	3	2	3	2	3	2	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:57738898T>C	ENST00000269122.3	+	8	1536	c.1262T>C	c.(1261-1263)cTt>cCt	p.L421P	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L421P	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	421	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGGTATCCTTTTGGACCAG	0.458			T	"ALK, TFE3"	"ALCL, renal "																																	uc002ixr.1				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(1273-1275)cTt>cCt		Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.							142	121	128					17																	57738898		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57738898T>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1262T>C	17.37:g.57738898T>C	ENSP00000269122:p.Leu421Pro					CLTC_uc002ixp.3_Missense_Mutation_p.L421P|CLTC_uc002ixq.1_Missense_Mutation_p.L421P	p.L425P	NM_004859	NP_004850	Q00610	CLH1_HUMAN			7	1717	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		421			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1274T>C	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699468	0.48307	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.54071	0.59;0.59	5.69	5.69	0.88448	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.86957	0.2089	10	0.87932	D	0	.	15.9504	0.79830	0.0:0.0:0.0:1.0	.	421;421	Q00610;Q00610-2	CLH1_HUMAN;.	P	421	ENSP00000269122:L421P;ENSP00000376763:L421P	ENSP00000269122:L421P	L	+	2	0	CLTC	55093680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.171000	0.68590	0.477000	0.44152	CTT		0.458	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57738898	T	C	57738898	3	2	269	1	0	0	0	0	1	0	0	0	3566	1609	56	4	1292	4	CLTC	17	57738898	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	5837120	57738898	23456312	55	19212											
AANAT	15	broad.mit.edu	37	chr17	74465804	74465804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcatgtgctggccGtgcaccgcgccttccggcag	4	7	12	18	4	0	0	0	0	0	0	1	0	1	0	6	2	3	4	6	2	0	1	rs72466447		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:74465804G>A	ENST00000392492.3	+	4	610	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	AANAT_ENST00000250615.3_Missense_Mutation_p.V171M	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	126	Acetyl-CoA binding. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						TGTGCTGGCCGTGCACCGCGC	0.692																																						uc021udg.1																			0				lung(1)	1						c.(511-513)Gtg>Atg		Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.							9	8	8					17																	74465804		2168	4236	6404	SO:0001583	missense	15				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	g.chr17:74465804G>A	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"serotonin N-acetyltransferase"	600950	"arylalkylamine N-acetyltransferase"			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.376G>A	17.37:g.74465804G>A	ENSP00000376282:p.Val126Met					AANAT_uc002jro.3_Missense_Mutation_p.V126M|AANAT_uc010wte.2_Non-coding_Transcript	p.V171M	NM_001166579	NP_001079	Q16613	SNAT_HUMAN			6	1518	+			126			N-acetyltransferase.		A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	37	c.511G>A	CCDS11745.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172790	0.78452	.	.	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.53423	0.62;0.62	5.13	5.13	0.70059	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88923	0.3367	10	0.87932	D	0	-10.2386	18.5824	0.91176	0.0:0.0:1.0:0.0	.	126	Q16613	SNAT_HUMAN	M	171;126	ENSP00000250615:V171M;ENSP00000376282:V126M	ENSP00000250615:V171M	V	+	1	0	AANAT	71977399	1.000000	0.71417	0.966000	0.40874	0.423000	0.31445	9.173000	0.94815	2.380000	0.81148	0.462000	0.41574	GTG		0.692	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088		A	74465804	G	A	74465804	3	1	269	1	0	0	0	0	1	0	0	0	18	1145	40	1	525	1	AANAT	17	74465804	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16726906	74465804	6729406	56	19213											
RAC3	5881	broad.mit.edu	37	chr17	79991354	79991354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgcccccacacgccCatcctcctggtgggcaccaa	8	5	7	21	1	0	0	0	0	0	0	2	0	2	0	7	2	1	1	7	2	1	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:79991354C>T	ENST00000306897.4	+	5	465	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	109					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCACACGCCCATCCTCCTGG	0.672																																						uc002kdf.3																			0				NS(1)|kidney(1)|skin(1)	3						c.(325-327)ccC>ccT		Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.							52	48	49					17																	79991354		2202	4300	6502	SO:0001819	synonymous_variant	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991354C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.327C>T	17.37:g.79991354C>T							p.P109P	NM_005052	NP_005043	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	433	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		109					O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	37	c.327C>T	CCDS11798.1																																																																																				0.672	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			T	79991354	C	T	79991354	2	4	269	1	0	0	0	0	0	0	0	1	12976	581	21	3		3	RAC3	17	79991354	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	5525550	79991354	1203856	57	19214											
ADNP2	22850	broad.mit.edu	37	chr18	77893797	77893797	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttttcaaacactttgtaCtacagcatgaagaagcatgt	15	12	6	8	0	1	2	1	1	0	1	1	2	1	2	0	0	6	3	0	0	6	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr18:77893797C>G	ENST00000262198.4	+	4	956	c.501C>G	c.(499-501)taC>taG	p.Y167*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	167					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACTTTGTACTACAGCATGA	0.373																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(499-501)taC>taG		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							76	76	76					18																	77893797		2203	4300	6503	SO:0001587	stop_gained	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77893797C>G	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.501C>G	18.37:g.77893797C>G	ENSP00000262198:p.Tyr167*						p.Y167*	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	956	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	167					A8K951|O94943|Q9H9P3	Nonsense_Mutation	SNP	ENST00000262198.4	37	c.501C>G	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294975	0.95574	.	.	ENSG00000101544	ENST00000262198	.	.	.	6.08	4.3	0.51218	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5324	5.6614	0.17670	0.0:0.6507:0.0:0.3493	.	.	.	.	X	167	.	.	Y	+	3	2	ADNP2	75994788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.925000	0.28791	1.586000	0.49944	0.591000	0.81541	TAC		0.373	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		G	77893797	C	G	77893797	4	3	269	1	0	0	0	0	0	1	0	0	324	576	20	5	511	5	ADNP2	18	77893797	Nonsense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		77893797	183451	58	19215											
TJP3	27134	broad.mit.edu	37	chr19	3731941	3731941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttacagagtttggcGtcaagctgggcagtcagatc	8	9	11	13	1	2	2	2	0	0	2	3	2	2	2	3	2	2	3	3	2	2	2	rs146857520		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:3731941G>A	ENST00000541714.2	+	6	1084	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TJP3_ENST00000539908.2_Missense_Mutation_p.V172I|TJP3_ENST00000589378.1_Missense_Mutation_p.V217I|TJP3_ENST00000382008.3_Missense_Mutation_p.V208I|TJP3_ENST00000587686.1_Missense_Mutation_p.V227I|TJP3_ENST00000262968.9_Missense_Mutation_p.V227I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	208	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTTTGGCGTCAAGCTGGG	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		16044	0		0	False		,,,				2504	0					uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(679-681)Gtc>Atc		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	45	41	43		679	4.4	0.5	19	dbSNP_134	43	0,8600		0,0,4300	yes	missense	TJP3	NM_014428.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	227/953	3731941	1,13005	2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3731941G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.622G>A	19.37:g.3731941G>A	ENSP00000439278:p.Val208Ile					TJP3_uc010xhs.2_Missense_Mutation_p.V208I|TJP3_uc010xht.2_Missense_Mutation_p.V172I|TJP3_uc010xhu.2_Missense_Mutation_p.V217I|TJP3_uc010xhw.2_Missense_Mutation_p.V227I	p.V227I	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	4	679	+			208			PDZ 2.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.679G>A	CCDS32873.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.85	2.359741	0.41801	2.27E-4	0.0	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.37	4.37	0.52481	PDZ/DHR/GLGF (4);	0.264796	0.29799	N	0.011174	T	0.18551	0.0445	N	0.10664	0.02	0.34334	D	0.68806	D;P;D;D	0.60160	0.965;0.943;0.987;0.965	P;P;P;P	0.52758	0.526;0.576;0.708;0.526	T	0.13926	-1.0491	10	0.38643	T	0.18	.	7.6503	0.28344	0.0:0.1924:0.636:0.1716	.	227;227;208;208	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	I	208;172;208;227	ENSP00000439278:V208I;ENSP00000439991:V172I;ENSP00000371438:V208I;ENSP00000262968:V227I	ENSP00000262968:V227I	V	+	1	0	TJP3	3682941	0.997000	0.39634	0.518000	0.27811	0.286000	0.27126	2.752000	0.47516	2.257000	0.74773	0.313000	0.20887	GTC		0.592	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3731941	G	A	3731941	3	1	269	1	0	0	0	0	1	0	0	0	15928	1145	40	1	697	1	TJP3	19	3731941	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		3731941	55397042	59	19216											
ZNF700	90592	broad.mit.edu	37	chr19	12059987	12059988	+	Frame_Shift_Del	DEL	CT	CT	-																															atttcaaacacatgaaaaaaCtcacactggagagaaacgct																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:12059987_12059988delCT	ENST00000254321.5	+	4	1291_1292	c.1148_1149delCT	c.(1147-1149)actfs	p.T383fs	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Frame_Shift_Del_p.T365fs|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CATGAAAAAACTCACACTGGAG	0.371																																						uc010xme.2																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1201-1203)actfs		Homo sapiens zinc finger protein 700 (ZNF700), mRNA.																																				SO:0001589	frameshift_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059987_12059988delCT	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1148_1149delCT	19.37:g.12059987_12059988delCT	ENSP00000254321:p.Thr383fs					ZNF700_uc002msu.3_Frame_Shift_Del_p.T383fs|ZNF700_uc010xmf.2_Intron	p.T401fs			Q9H0M5	ZN700_HUMAN			4	1393_1394	+			383					B9EGU4	Frame_Shift_Del	DEL	ENST00000254321.5	37	c.1202_1203delCT	CCDS32915.1																																																																																				0.371	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		-	12059988	CT	-	12059987	7	5	269	1	0	1	0	1	0	0	0	0	18101	565	20	0	1162	0	ZNF700	19	12059987	Frame_Shift_Del	DEL	CT	TCGA-76-6280-01A-21D-1845-08	8328046	12059987	47068996	60	19217											
C19orf62	29086	broad.mit.edu	37	chr19	17384818	17384818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcactggtggtggtgaaCgatgacacggcctgggtgag	7	10	17	7	2	0	3	0	3	0	0	0	4	0	3	1	5	2	1	1	5	1	1	rs376718985		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:17384818C>T	ENST00000359435.4	+	4	643	c.450C>T	c.(448-450)aaC>aaT	p.N150N	BABAM1_ENST00000601043.1_Silent_p.N150N|BABAM1_ENST00000447614.2_Silent_p.N150N|BABAM1_ENST00000595632.1_Intron|CTD-2278I10.6_ENST00000596542.1_Silent_p.N72N|BABAM1_ENST00000598188.1_Silent_p.N150N|BABAM1_ENST00000448635.2_3'UTR	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	150	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TGGTGGTGAACGATGACACGG	0.607																																						uc002nfu.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(448-450)aaC>aaT		Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.		C	,	0,4274		0,0,2137	70	82	78		450,450	-7.8	0.1	19		78	4,8476		0,4,4236	no	coding-synonymous,coding-synonymous	BABAM1	NM_001033549.1,NM_014173.2	,	0,4,6373	TT,TC,CC		0.0472,0.0,0.0314	,	150/330,150/330	17384818	4,12750	2137	4240	6377	SO:0001819	synonymous_variant	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17384818C>T	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"Mediator of Rap80 Interactions and Targeting 40 kD", "new component of the BRCA1 A complex"	612766	"chromosome 19 open reading frame 62"	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.450C>T	19.37:g.17384818C>T						BABAM1_uc010xpl.1_Intron|BABAM1_uc002nfv.3_Silent_p.N150N|BABAM1_uc010ean.2_Non-coding_Transcript|BABAM1_uc002nfw.3_Silent_p.N150N	p.N150N	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN			3	568	+			150			VWFA-like.		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Silent	SNP	ENST00000359435.4	37	c.450C>T	CCDS46012.1																																																																																				0.607	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173		T	17384818	C	T	17384818	2	4	269	1	0	0	0	0	0	0	0	1	1944	535	19	1		1	C19orf62	19	17384818	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	5324831	17384818	41744165	61	19218											
CILP2	148113	broad.mit.edu	37	chr19	19656132	19656132	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcctcctggactggcgatctCctggcctggtggcccaaccc	4	8	12	17	1	1	0	0	0	1	0	3	2	2	1	6	5	1	0	6	5	1	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:19656132C>G	ENST00000291495.5	+	8	2863	c.2778C>G	c.(2776-2778)ctC>ctG	p.L926L	CILP2_ENST00000586018.1_Silent_p.L932L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	926						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGGCGATCTCCTGGCCTGGT	0.647																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2794-2796)ctC>ctG		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							32	23	26					19																	19656132		2202	4300	6502	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656132C>G	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2778C>G	19.37:g.19656132C>G						CILP2_uc002nmv.4_Silent_p.L926L	p.L932L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2881	+			926					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2796C>G	CCDS12405.1																																																																																				0.647	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		G	19656132	C	G	19656132	2	3	269	1	0	0	0	0	0	0	0	1	3430	842	30	5		5	CILP2	19	19656132	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	2271314	19656132	39472851	62	19219											
CD22	933	broad.mit.edu	37	chr19	35837131	35837131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcagcattgcacaagcGccaagtggtaaggagggtct	11	10	12	8	1	2	0	1	0	1	0	2	1	2	1	1	3	3	3	1	3	4	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:35837131G>A	ENST00000085219.5	+	13	2471	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	CD22_ENST00000594250.1_Missense_Mutation_p.R625H|CD22_ENST00000419549.2_Missense_Mutation_p.R630H|CD22_ENST00000536635.2_Missense_Mutation_p.R714H|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.R617H|CD22_ENST00000341773.6_Missense_Mutation_p.R625H	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	802					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCACAAGCGCCAAGTGGTA	0.597																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0		p.R802C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2404-2406)cGc>cAc		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						104	91	95					19																	35837131		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837131G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2405G>A	19.37:g.35837131G>A	ENSP00000085219:p.Arg802His					CD22_uc010edu.3_Missense_Mutation_p.R714H|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R625H|CD22_uc010xst.2_Missense_Mutation_p.R630H|CD22_uc010edx.3_Non-coding_Transcript	p.R802H	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		12	2489	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		802					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2405G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063052	0.55432	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.56611	0.91;0.51;0.45;0.68;0.99	3.78	-1.5	0.08691	.	1.389400	0.04925	N	0.455743	T	0.63022	0.2476	M	0.70595	2.14	0.09310	N	1	D;D;D;D	0.71674	0.966;0.998;0.99;0.996	B;P;B;P	0.59056	0.402;0.851;0.402;0.748	T	0.52968	-0.8504	10	0.62326	D	0.03	.	4.2584	0.10728	0.2265:0.3707:0.4028:0.0	.	630;714;802;625	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	H	802;714;625;617;630	ENSP00000085219:R802H;ENSP00000442279:R714H;ENSP00000339349:R625H;ENSP00000270311:R617H;ENSP00000403822:R630H	ENSP00000085219:R802H	R	+	2	0	CD22	40528971	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.523000	0.06230	0.052000	0.16007	0.313000	0.20887	CGC		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		A	35837131	G	A	35837131	3	1	269	1	0	0	0	0	1	0	0	0	2985	1087	38	1	2451	1	CD22	19	35837131	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16180999	35837131	23291852	63	19220											
ADCK4	79934	broad.mit.edu	37	chr19	41209757	41209757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgagctcctcttcaagaaCtctctgcggggagtggtcac	7	9	12	13	2	4	1	2	0	2	1	6	3	5	2	2	3	3	1	2	3	2	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:41209757C>G	ENST00000324464.3	-	8	881	c.580G>C	c.(580-582)Gtt>Ctt	p.V194L	ADCK4_ENST00000450541.1_Missense_Mutation_p.V153L|ADCK4_ENST00000243583.6_Missense_Mutation_p.V153L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	194	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			tcttcaagaactctcTGCGGG	0.592																																						uc002oor.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(580-582)Gtt>Ctt		Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.							26	28	27					19																	41209757		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209757C>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.580G>C	19.37:g.41209757C>G	ENSP00000315118:p.Val194Leu					ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Missense_Mutation_p.V153L	p.V194L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		7	882	-			194			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.580G>C	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985593	0.74589	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.47177	0.85;0.85;0.85	5.4	5.4	0.78164	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.70275	2.135	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.14578	0.007;0.011	T	0.52193	-0.8608	10	0.66056	D	0.02	-7.2932	17.9605	0.89084	0.0:1.0:0.0:0.0	.	194;153	Q96D53;Q96D53-2	ADCK4_HUMAN;.	L	194;153;153	ENSP00000315118:V194L;ENSP00000412839:V153L;ENSP00000243583:V153L	ENSP00000243583:V153L	V	-	1	0	ADCK4	45901597	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.861000	0.56002	2.538000	0.85594	0.655000	0.94253	GTT		0.592	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		G	41209757	C	G	41209757	3	3	269	1	0	0	0	0	1	0	0	0	290	565	20	5	1086	5	ADCK4	19	41209757	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	5372626	41209757	17919226	64	19221											
LILRA3	11026	broad.mit.edu	37	chr19	54800078	54800078	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtcggacttgttttGtggtgggctgagggtctcag	4	14	17	6	1	1	1	1	1	1	0	3	3	1	3	0	5	0	2	0	5	0	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:54800078G>A	ENST00000251390.3	-	7	1379	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	LILRA3_ENST00000391744.3_Nonsense_Mutation_p.Q366*|LILRA3_ENST00000391745.1_Nonsense_Mutation_p.Q447*	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	430					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTTGTTTTGTGGTGGGCTG	0.507																																						uc002qfd.3																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1288-1290)Caa>Taa		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.							125	100	109					19																	54800078		2203	4300	6503	SO:0001587	stop_gained	11026				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54800078G>A	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1288C>T	19.37:g.54800078G>A	ENSP00000251390:p.Gln430*					LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Nonsense_Mutation_p.Q366*	p.Q430*	NM_006865	NP_006856	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1380	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		429					J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Nonsense_Mutation	SNP	ENST00000251390.3	37	c.1288C>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	g	19.13	3.768503	0.69878	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	.	.	.	1.33	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.22531	N	0.999016	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.0224	0.03512	0.2148:0.0:0.4745:0.3107	.	.	.	.	X	430;366;447	.	ENSP00000251390:Q430X	Q	-	1	0	LILRA3	59491890	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.008000	0.03663	-0.265000	0.09352	-0.320000	0.08662	CAA		0.507	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			A	54800078	G	A	54800078	4	1	269	1	0	0	0	0	0	1	0	0	8786	1386	48	3	35	3	LILRA3	19	54800078	Nonsense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	13590321	54800078	4328905	65	19222											
TPX2	22974	broad.mit.edu	37	chr20	30347914	30347914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatggaactggagggcTttttcagggcaaaactcctt	12	10	12	7	0	1	1	1	0	0	1	2	4	2	3	1	4	2	2	1	4	5	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:30347914T>C	ENST00000300403.6	+	4	689	c.161T>C	c.(160-162)cTt>cCt	p.L54P	TPX2_ENST00000340513.4_Missense_Mutation_p.L54P	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	54					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTGGAGGGCTTTTTCAGGGC	0.413																																						uc002wwp.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(160-162)cTt>cCt		Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.							131	134	133					20																	30347914		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30347914T>C	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.161T>C	20.37:g.30347914T>C	ENSP00000300403:p.Leu54Pro					TPX2_uc010gdv.1_Missense_Mutation_p.L54P	p.L54P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		3	859	+			54					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.161T>C	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273050	0.23221	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	4.81	-0.306	0.12780	Aurora-A binding (1);	0.628597	0.15475	N	0.260385	T	0.12561	0.0305	N	0.04508	-0.205	0.20764	N	0.999855	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.003	T	0.20874	-1.0262	10	0.44086	T	0.13	-1.7232	7.5894	0.28012	0.0:0.468:0.0:0.532	.	54;54	Q96RR5;Q9ULW0	.;TPX2_HUMAN	P	54	ENSP00000341145:L54P	ENSP00000300403:L54P	L	+	2	0	TPX2	29811575	0.998000	0.40836	0.463000	0.27130	0.836000	0.47400	0.121000	0.15667	0.048000	0.15891	-0.326000	0.08463	CTT		0.413	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			C	30347914	T	C	30347914	3	2	269	1	0	0	0	0	1	0	0	0	16429	1609	56	4	167	4	TPX2	20	30347914	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08		30347914	32677606	66	19223											
NFATC2	4773	broad.mit.edu	37	chr20	50139989	50139989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggggtgaggctccgggcGgcagggcaaccaaggcctcg	6	4	19	12	3	0	1	0	1	0	0	2	1	1	1	3	7	1	4	3	7	2	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:50139989G>A	ENST00000396009.3	-	2	1010	c.791C>T	c.(790-792)cCg>cTg	p.P264L	NFATC2_ENST00000609943.1_Missense_Mutation_p.P244L|NFATC2_ENST00000371564.3_Missense_Mutation_p.P264L|NFATC2_ENST00000609507.1_Missense_Mutation_p.P45L|NFATC2_ENST00000610033.1_Missense_Mutation_p.P45L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P244L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	264	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTCCGGGCGGCAGGGCAAC	0.751																																						uc002xwd.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(790-792)cCg>cTg		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							13	17	16					20																	50139989		2183	4224	6407	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139989G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.791C>T	20.37:g.50139989G>A	ENSP00000379330:p.Pro264Leu					NFATC2_uc002xwc.3_Missense_Mutation_p.P264L|NFATC2_uc010zyv.2_Missense_Mutation_p.P45L|NFATC2_uc010zyw.2_Missense_Mutation_p.P45L|NFATC2_uc002xwe.3_Missense_Mutation_p.P244L|NFATC2_uc010zyx.2_Missense_Mutation_p.P244L|NFATC2_uc010zyy.2_Missense_Mutation_p.P45L|NFATC2_uc010zyz.2_Missense_Mutation_p.P45L	p.P264L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			1	1011	-	Hepatocellular(150;0.248)		264			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.791C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117434	0.20877	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	1.74	0.24563	.	0.736359	0.12156	N	0.494381	T	0.47801	0.1465	N	0.12746	0.255	0.36887	D	0.889704	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38693	-0.9649	10	0.07482	T	0.82	-8.5649	3.9263	0.09265	0.5626:0.0:0.2374:0.2	.	244;244;264;264	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	264;264;45;244	ENSP00000360619:P264L;ENSP00000379330:P264L;ENSP00000396471:P244L	ENSP00000360619:P264L	P	-	2	0	NFATC2	49573396	1.000000	0.71417	0.989000	0.46669	0.826000	0.46750	0.801000	0.27055	0.356000	0.24157	-0.657000	0.03884	CCG		0.751	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		A	50139989	G	A	50139989	3	1	269	1	0	0	0	0	1	0	0	0	10362	1116	39	2	2070	2	NFATC2	20	50139989	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	19792075	50139989	12885531	67	19224											
RPS21	6227	broad.mit.edu	37	chr20	60963374	60963374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcttaagggtgagtcaGatgattccattctccgattg	8	17	9	7	1	3	3	1	2	2	1	5	4	4	3	2	1	0	0	2	1	1	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:60963374G>C	ENST00000343986.4	+	5	235	c.196G>C	c.(196-198)Gat>Cat	p.D66H	RPS21_ENST00000450116.2_Missense_Mutation_p.D66H|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	66					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGTGAGTCAGATGATTCCAT	0.507																																						uc002yct.3																			0				endometrium(2)|lung(1)|prostate(1)	4								Homo sapiens ribosomal protein S21 (RPS21), mRNA.							79	70	73					20																	60963374		2202	4299	6501	SO:0001583	missense	6227				endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome	g.chr20:60963374G>C	L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"S ribosomal proteins"	10409	protein-coding gene	gene with protein product	"8.2 kDa differentiation factor"	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.196G>C	20.37:g.60963374G>C	ENSP00000345957:p.Asp66His					RPS21_uc002ycr.3_Missense_Mutation_p.D66H|RPS21_uc002ycs.3_Missense_Mutation_p.D66H				P63220	RS21_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		3		+	Breast(26;2.05e-08)							P35265	Missense_Mutation	SNP	ENST00000343986.4	37		CCDS13497.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.02|17.02	3.281696|3.281696	0.59758|0.59758	.|.	.|.	ENSG00000171858|ENSG00000171858	ENST00000317311;ENST00000343986;ENST00000450116|ENST00000337102	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|3.088370	.|0.01432	.|N	.|0.014782	T|T	0.71837|0.71837	0.3387|0.3387	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.25007|.	0.116|.	B|.	0.35278|.	0.199|.	T|T	0.50816|0.50816	-0.8783|-0.8783	7|5	0.54805|.	T|.	0.06|.	0.4772|0.4772	16.0176|16.0176	0.80455|0.80455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	66|.	P63220|.	RS21_HUMAN|.	H|H	66|65	.|.	ENSP00000324438:D66H|.	D|Q	+|+	1|3	0|2	RPS21|RPS21	60396769|60396769	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.865000|0.865000	0.49528|0.49528	7.031000|7.031000	0.76491|0.76491	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.507	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2	NM_001024		C	60963374	G	C	60963374	3	2	269	1	0	0	0	0	1	0	0	0	13633	942	33	5	210	5	RPS21	20	60963374	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	10823385	60963374	2062146	68	19225											
AADACL3	126767	broad.mit.edu	37	chr1	12785683	12785683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagctgcttacttggaagTaagtgttgtcctggatgtga	9	14	13	5	0	0	2	0	2	0	0	1	4	1	4	1	2	3	4	1	2	4	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:12785683T>C	ENST00000359318.5	+	4	978	c.773T>C	c.(772-774)gTa>gCa	p.V258A	AADACL3_ENST00000332530.3_Missense_Mutation_p.V188A	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	258							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGAAGTAAGTGTTGTC	0.502																																						uc009vnn.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(772-774)gTa>gCa		Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.							117	117	117					1																	12785683		2049	4199	6248	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785683T>C		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.773T>C	1.37:g.12785683T>C	ENSP00000352268:p.Val258Ala					AADACL3_uc001aug.1_Missense_Mutation_p.V188A	p.V258A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	1006	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	258					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.773T>C	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	T	8.348	0.830224	0.16749	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10477	2.87;2.87	5.56	0.154	0.14901	Alpha/beta hydrolase fold-3 (1);	1.099080	0.06797	N	0.788072	T	0.04907	0.0132	N	0.05330	-0.07	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.12837	0.004;0.008	T	0.45175	-0.9279	10	0.16896	T	0.51	-0.869	4.2696	0.10780	0.1638:0.3134:0.0:0.5228	.	258;188	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	A	188;258	ENSP00000333352:V188A;ENSP00000352268:V258A	ENSP00000333352:V188A	V	+	2	0	AADACL3	12708270	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.086000	0.14935	0.280000	0.22209	-0.425000	0.05940	GTA		0.502	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		C	12785683	T	C	12785683	3	2	270	1	0	0	0	0	1	0	0	0	12	1638	57	4	791	4	AADACL3	1	12785683	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08		12785683	236464938	1	19226											
C1orf129	80133	broad.mit.edu	37	chr1	170964598	170964598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtggcccagtatttcccCcagctcttgacgactcttat	6	12	9	14	2	2	1	0	1	2	0	3	2	3	1	3	2	1	2	3	2	2	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:170964598C>T	ENST00000367758.3	+	13	1362	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	MROH9_ENST00000367759.4_Silent_p.P421P	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	421																	AGTATTTCCCCCAGCTCTTGA	0.473																																						uc010plz.2																			0		p.P421S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(1261-1263)ccC>ccT		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.							103	100	101					1																	170964598		1902	4114	6016	SO:0001819	synonymous_variant	80133						binding	g.chr1:170964598C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1263C>T	1.37:g.170964598C>T						C1orf129_uc001ghg.3_Silent_p.P421P|C1orf129_uc009wvy.3_Silent_p.P228P	p.P421P	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			12	1417	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		421					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1263C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944773	0.02304	.	.	ENSG00000117501	ENST00000426136	T	0.66638	-0.22	5.37	-5.57	0.02521	.	0.000000	0.64402	D	0.000017	T	0.47078	0.1426	.	.	.	0.51233	D	0.999914	.	.	.	.	.	.	T	0.54609	-0.8268	7	0.87932	D	0	-20.3591	2.4121	0.04427	0.1193:0.1921:0.1957:0.493	.	.	.	.	S	28	ENSP00000403697:P28S	ENSP00000403697:P28S	P	+	1	0	C1orf129	169231222	0.000000	0.05858	0.010000	0.14722	0.030000	0.12068	-4.558000	0.00216	-1.291000	0.02368	-0.148000	0.13756	CCA		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170964598	C	T	170964598	2	4	270	1	0	0	0	0	0	0	0	1	1996	610	22	3		3	C1orf129	1	170964598	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	158178915	170964598	78286023	2	19227											
MFSD9	84804	broad.mit.edu	37	chr2	103335367	103335367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggccgcaccccaaagcGctcctccagggccaggacaa	9	4	11	17	2	0	0	0	0	0	0	2	1	2	1	6	3	1	2	6	3	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:103335367G>A	ENST00000258436.5	-	6	980	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	313					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCCCAAAGCGCTCCTCCAGG	0.587																																						uc002tcb.2																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(937-939)Cgc>Tgc		Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.							49	46	47					2																	103335367		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335367G>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.937C>T	2.37:g.103335367G>A	ENSP00000258436:p.Arg313Cys					MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R252C	p.R313C	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			5	1005	-			313					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.937C>T	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662550	0.67700	.	.	ENSG00000135953	ENST00000258436	T	0.58797	0.31	5.0	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060830	0.64402	D	0.000006	T	0.58090	0.2098	M	0.63428	1.95	0.80722	D	1	P	0.48640	0.913	P	0.44647	0.456	T	0.64601	-0.6369	10	0.87932	D	0	-7.4553	12.0107	0.53286	0.0:0.0:0.7075:0.2925	.	313	Q8NBP5	MFSD9_HUMAN	C	313	ENSP00000258436:R313C	ENSP00000258436:R313C	R	-	1	0	MFSD9	102701799	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.402000	0.66332	2.488000	0.83962	0.644000	0.83932	CGC		0.587	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		A	103335367	G	A	103335367	3	1	270	1	0	0	0	0	1	0	0	0	9539	1087	38	1	491	1	MFSD9	2	103335367	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		103335367	139864006	3	19228											
SLC5A7	60482	broad.mit.edu	37	chr2	108626710	108626710	+	Frame_Shift_Del	DEL	G	G	-																															ttcggacaaagaaatcgtttGggttatgcgaatcacagtgt																										TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:108626710delG	ENST00000264047.2	+	9	1412	c.1136delG	c.(1135-1137)tggfs	p.W379fs	SLC5A7_ENST00000540517.1_Frame_Shift_Del_p.W274fs|SLC5A7_ENST00000409059.1_Frame_Shift_Del_p.W379fs	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	379					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAATCGTTTGGGTTATGCGA	0.443																																						uc002tdv.3																			0		p.V378I(2)|p.V378V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1135-1137)tggfs		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						156	126	136					2																	108626710		2203	4300	6503	SO:0001589	frameshift_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626710delG	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1136delG	2.37:g.108626710delG	ENSP00000264047:p.Trp379fs					SLC5A7_uc010ywm.2_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.3_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.2_Frame_Shift_Del_p.W266fs	p.W379fs	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			8	1412	+			379					Q53TF2	Frame_Shift_Del	DEL	ENST00000264047.2	37	c.1136delG	CCDS2074.1																																																																																				0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			-	108626710	G	-	108626710	7	5	270	1	0	1	0	1	0	0	0	0	14670	1357	47	0	1166	0	SLC5A7	2	108626710	Frame_Shift_Del	DEL	G	TCGA-76-6282-01A-11D-1696-08	5291343	108626710	134572663	4	19229											
WNT10A	80326	broad.mit.edu	37	chr2	219746954	219746954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgccaacacagtgtgccTaacattgccaggcctgagcc	11	7	9	14	0	0	1	0	1	0	0	0	1	0	1	5	1	6	0	5	1	3	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:219746954T>C	ENST00000258411.3	+	2	818	c.185T>C	c.(184-186)cTa>cCa	p.L62P		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	62					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGTGTGCCTAACATTGCCA	0.612																																						uc002vjd.1																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(184-186)cTa>cCa		Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.							85	80	82					2																	219746954		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219746954T>C	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.185T>C	2.37:g.219746954T>C	ENSP00000258411:p.Leu62Pro						p.L62P	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	648	+		Renal(207;0.0474)	62					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.185T>C	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593884	0.66219	.	.	ENSG00000135925	ENST00000258411	T	0.75589	-0.95	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000010	T	0.80665	0.4666	L	0.61036	1.89	0.80722	D	1	D	0.54397	0.966	P	0.58780	0.845	T	0.79315	-0.1854	10	0.32370	T	0.25	.	13.5718	0.61851	0.0:0.0:0.0:1.0	.	62	Q9GZT5	WN10A_HUMAN	P	62	ENSP00000258411:L62P	ENSP00000258411:L62P	L	+	2	0	WNT10A	219455198	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.630000	0.83225	1.809000	0.52856	0.379000	0.24179	CTA		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		C	219746954	T	C	219746954	3	2	270	1	0	0	0	0	1	0	0	0	17379	1522	53	4	191	4	WNT10A	2	219746954	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	111120244	219746954	23452419	5	19230											
AGAP1	116987	broad.mit.edu	37	chr2	236659063	236659063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaagctctccaacgacCtgaaacggtgcacgtactac	12	6	10	13	4	1	1	0	1	1	0	2	4	1	2	2	2	6	3	2	2	5	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:236659063C>T	ENST00000304032.8	+	6	1184	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	AGAP1_ENST00000428334.2_Silent_p.L41L|AGAP1_ENST00000409538.1_Silent_p.L467L|AGAP1_ENST00000336665.5_Silent_p.L202L|AGAP1_ENST00000409457.1_Silent_p.L202L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	202	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCAACGACCTGAAACGGTG	0.527																																						uc002vvs.3																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(604-606)Ctg>Ttg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.							268	214	233					2																	236659063		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659063C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.604C>T	2.37:g.236659063C>T						AGAP1_uc002vvt.3_Silent_p.L202L|AGAP1_uc021vyp.1_Silent_p.L202L	p.L202L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			5	1202	+			202			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.604C>T	CCDS33408.1																																																																																				0.527	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		T	236659063	C	T	236659063	2	4	270	1	0	0	0	0	0	0	0	1	366	680	24	3		3	AGAP1	2	236659063	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	16912109	236659063	6540310	6	19231											
FGD5	152273	broad.mit.edu	37	chr3	14862054	14862054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaaggtggccggctaTgtcccagaaaccgtccctga	8	8	13	12	2	1	2	0	1	1	1	3	3	3	3	4	4	1	1	4	4	3	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:14862054T>C	ENST00000285046.5	+	1	1586	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	FGD5_ENST00000543601.1_Silent_p.Y251Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	492					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCGGCTATGTCCCAGAAA	0.612																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1474-1476)taT>taC		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							38	42	41					3																	14862054		1942	4118	6060	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862054T>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1476T>C	3.37:g.14862054T>C						FGD5_uc011avk.2_Silent_p.Y492Y	p.Y492Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1586	+			492					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1476T>C	CCDS46767.1																																																																																				0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		C	14862054	T	C	14862054	2	2	270	1	0	0	0	0	0	0	0	1	5836	1471	51	4		4	FGD5	3	14862054	Silent	SNP	T	TCGA-76-6282-01A-11D-1696-08		14862054	183160376	7	19232											
EFHB	151651	broad.mit.edu	37	chr3	19974766	19974766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacttcccagagtataTgggtctgatgcgatctggag	13	10	11	7	1	2	2	0	1	2	1	3	4	3	3	1	2	2	1	1	2	5	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:19974766T>A	ENST00000295824.9	-	1	906	c.745A>T	c.(745-747)Ata>Tta	p.I249L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.I119L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	249							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAGAGTATATGGGTCTGATG	0.443																																						uc003cbl.4																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(745-747)Ata>Tta		Homo sapiens EF-hand domain family, member B (EFHB), mRNA.							71	68	69					3																	19974766		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19974766T>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.745A>T	3.37:g.19974766T>A	ENSP00000295824:p.Ile249Leu					EFHB_uc003cbm.3_Missense_Mutation_p.I119L	p.I249L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			0	941	-			249					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.745A>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671769	0.47781	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.54071	1.43;1.61;1.71;0.59	5.0	2.64	0.31445	.	0.171885	0.40554	N	0.001062	T	0.41719	0.1171	L	0.57536	1.79	0.26003	N	0.9821	B;B	0.29988	0.194;0.264	B;B	0.23419	0.046;0.03	T	0.25606	-1.0127	9	.	.	.	-18.3338	6.5392	0.22370	0.0:0.1901:0.0:0.8099	.	119;249	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	L	249;119;249;7	ENSP00000295824:I249L;ENSP00000342263:I119L;ENSP00000373908:I249L;ENSP00000396778:I7L	.	I	-	1	0	EFHB	19949770	0.995000	0.38212	1.000000	0.80357	0.853000	0.48598	0.718000	0.25866	0.485000	0.27652	-0.250000	0.11733	ATA		0.443	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		A	19974766	T	A	19974766	3	1	270	1	0	0	0	0	1	0	0	0	4945	1464	51	5	1808	5	EFHB	3	19974766	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	5112712	19974766	178047664	8	19233											
BOC	91653	broad.mit.edu	37	chr3	112997000	112997000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccagccaaccagcaccGcctgaccctcaccagacttg	10	6	6	19	1	1	2	1	1	0	1	2	2	2	2	7	0	3	1	7	0	1	2	rs149038528		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:112997000G>A	ENST00000495514.1	+	10	2302	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	BOC_ENST00000355385.3_Missense_Mutation_p.R533H|BOC_ENST00000273395.4_Missense_Mutation_p.R534H|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	533	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACCAGCACCGCCTGACCCTC	0.567																																						uc003dzx.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1597-1599)cGc>cAc		Homo sapiens Boc homolog (mouse) (BOC), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	167	158	161		1598	2	1	3	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOC	NM_033254.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	533/1115	112997000	2,13004	2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112997000G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1598G>A	3.37:g.112997000G>A	ENSP00000418663:p.Arg533His					BOC_uc003dzy.3_Missense_Mutation_p.R533H|BOC_uc003dzz.3_Missense_Mutation_p.R534H|BOC_uc003eab.3_Missense_Mutation_p.R234H|BOC_uc003eac.3_5'Flank	p.R533H	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2219	+			533			Fibronectin type-III 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1598G>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729806	0.30684	2.27E-4	1.16E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58506	0.33;0.33;0.33	5.8	2.01	0.26516	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372113	0.30556	N	0.009378	T	0.44095	0.1277	L	0.34521	1.04	0.35619	D	0.809276	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.46205	-0.9208	10	0.46703	T	0.11	.	10.7438	0.46168	0.3145:0.0:0.6855:0.0	.	534;533	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	533;534;533	ENSP00000418663:R533H;ENSP00000273395:R534H;ENSP00000347546:R533H	ENSP00000273395:R534H	R	+	2	0	BOC	114479690	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	0.556000	0.23438	0.368000	0.24481	-0.983000	0.02560	CGC		0.567	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	112997000	G	A	112997000	3	1	270	1	0	0	0	0	1	0	0	0	1481	1087	38	1	1628	1	BOC	3	112997000	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	93022234	112997000	85025430	9	19234											
KDR	3791	broad.mit.edu	37	chr4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgataagaggatatttcGtgccgccaggtccctgtgga	8	10	12	11	3	0	1	0	0	0	1	3	4	2	3	4	3	1	0	4	3	2	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:55956221G>A	ENST00000263923.4	-	23	3389	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		1	Substitution - Nonsense(1)	p.R1032Q(2)|p.R1032*(2)	prostate(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3094-3096)Cga>Tga		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						89	86	87					4																	55956221		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55956221G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3094C>T	4.37:g.55956221G>A	ENSP00000263923:p.Arg1032*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	p.R1032*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		22	3396	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1032			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3094C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	43	10.428062	0.99403	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.32	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7963	0.78412	0.0:0.0:0.8628:0.1372	.	.	.	.	X	1032	.	ENSP00000263923:R1032X	R	-	1	2	KDR	55650978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.160000	0.64929	1.364000	0.46038	0.563000	0.77884	CGA		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55956221	G	A	55956221	4	1	270	1	0	0	0	0	0	1	0	0	8139	1153	40	1	1008	1	KDR	4	55956221	Nonsense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		55956221	135198055	10	19235											
PROL1	58503	broad.mit.edu	37	chr4	71275177	71275177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactctacaggccaagatgGgttccaccaagtcccccacc	10	6	7	18	0	1	1	0	0	1	1	3	1	3	1	7	2	1	1	7	2	3	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:71275177G>T	ENST00000399575.2	+	3	306	c.132G>T	c.(130-132)tgG>tgT	p.W44C	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	44	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GGCCAAGATGGGTTCCACCAA	0.502																																						uc003hfi.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(130-132)tgG>tgT		Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.							141	141	141					4																	71275177		1959	4156	6115	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275177G>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.132G>T	4.37:g.71275177G>T	ENSP00000382485:p.Trp44Cys						p.W44C	NM_021225	NP_067048	Q99935	PROL1_HUMAN			2	306	+		all_hematologic(202;0.196)	44			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.132G>T	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082359	0.08533	.	.	ENSG00000171199	ENST00000399575	T	0.30182	1.54	2.19	0.389	0.16269	.	.	.	.	.	T	0.35537	0.0935	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	P	0.61940	0.896	T	0.15867	-1.0422	9	0.87932	D	0	.	4.3015	0.10927	0.3644:0.0:0.6356:0.0	.	44	Q99935	PROL1_HUMAN	C	44	ENSP00000382485:W44C	ENSP00000382485:W44C	W	+	3	0	PROL1	71309766	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.355000	0.20163	0.066000	0.16515	0.491000	0.48974	TGG		0.502	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		T	71275177	G	T	71275177	3	4	270	1	0	0	0	0	1	0	0	0	12554	1241	43	5	138	5	PROL1	4	71275177	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	15318956	71275177	119879099	11	19236											
HSD17B13	345275	broad.mit.edu	37	chr4	88239495	88239495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacctgatttagagagcGatagatctcttctctgttgc	8	15	8	10	1	3	3	1	1	3	2	6	5	3	3	1	0	2	1	1	0	2	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:88239495G>A	ENST00000328546.4	-	2	368	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Intron	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	102						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTAGAGAGCGATAGATCTCT	0.468																																						uc003hqo.2																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(304-306)Cgc>Tgc		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.							133	120	124					4																	88239495		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88239495G>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.304C>T	4.37:g.88239495G>A	ENSP00000333300:p.Arg102Cys					HSD17B13_uc010ikk.2_Intron	p.R102C	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	1	367	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	102					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.304C>T	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648093	0.29336	.	.	ENSG00000170509	ENST00000328546	D	0.88509	-2.39	4.94	0.998	0.19857	NAD(P)-binding domain (1);	0.802457	0.11402	N	0.567668	D	0.92185	0.7522	M	0.80982	2.52	0.09310	N	1	D	0.55385	0.971	P	0.58970	0.849	T	0.82812	-0.0272	10	0.66056	D	0.02	.	7.5202	0.27624	0.0:0.0721:0.2722:0.6557	.	102	Q7Z5P4	DHB13_HUMAN	C	102	ENSP00000333300:R102C	ENSP00000333300:R102C	R	-	1	0	HSD17B13	88458519	0.047000	0.20315	0.016000	0.15963	0.060000	0.15804	1.369000	0.34227	0.038000	0.15604	-0.362000	0.07510	CGC		0.468	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		A	88239495	G	A	88239495	3	1	270	1	0	0	0	0	1	0	0	0	7382	1058	37	2	622	2	HSD17B13	4	88239495	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	16964318	88239495	102914781	12	19237											
NAIP	4671	broad.mit.edu	37	chr5	70307168	70307168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaatttcctaaacatccaCcacaggaaaaacactgtacc	16	7	3	15	0	0	0	0	0	0	0	2	1	2	1	5	1	3	1	5	1	6	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:70307168C>A	ENST00000517649.1	-	5	892	c.602G>T	c.(601-603)gGt>gTt	p.G201V	NAIP_ENST00000194097.4_Missense_Mutation_p.G201V|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.G201V	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	201					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAAACATCCACCACAGGAAAA	0.403																																						uc003kar.1																			0				central_nervous_system(1)	1						c.(601-603)gGt>gTt		Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.							135	117	123					5																	70307168		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70307168C>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.602G>T	5.37:g.70307168C>A	ENSP00000428657:p.Gly201Val					NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G201V|NAIP_uc003kas.1_Intron	p.G201V	NM_004536	NP_004527	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1320	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	201					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.602G>T	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.012011	0.35511	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04809	3.55;3.55;3.55	2.99	2.11	0.27256	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.21801	0.0525	M	0.92026	3.265	0.45403	D	0.998387	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.953	T	0.00636	-1.1633	9	0.72032	D	0.01	.	5.4063	0.16323	0.1977:0.6881:0.0:0.1143	.	201;201	E7EQW0;Q13075	.;BIRC1_HUMAN	V	201	ENSP00000428657:G201V;ENSP00000443944:G201V;ENSP00000429545:G201V	ENSP00000443944:G201V	G	-	2	0	NAIP	70342924	0.258000	0.24033	0.810000	0.32431	0.637000	0.38172	-0.086000	0.11233	0.830000	0.34757	0.404000	0.27445	GGT		0.403	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		A	70307168	C	A	70307168	3	1	270	1	0	0	0	0	1	0	0	0	10147	507	18	5	3661	5	NAIP	5	70307168	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		70307168	110608092	13	19238											
PTCD2	79810	broad.mit.edu	37	chr5	71616252	71616252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcatttcggccctcgaatCgagttctcctgcaggcgctg	5	11	11	14	4	1	0	0	0	1	0	5	2	1	0	2	2	2	4	2	2	1	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:71616252C>G	ENST00000380639.5	+	1	59	c.43C>G	c.(43-45)Cga>Gga	p.R15G	PTCD2_ENST00000543322.1_Missense_Mutation_p.R15G|PTCD2_ENST00000503868.1_Missense_Mutation_p.R15G|MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000261413.5_5'Flank|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000457646.4_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	15					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(43-45)Cga>Gga		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							49	56	54					5																	71616252		2146	4269	6415	SO:0001583	missense	79810							g.chr5:71616252C>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.43C>G	5.37:g.71616252C>G	ENSP00000370013:p.Arg15Gly					MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.R15G|PTCD2_uc003kcd.3_Non-coding_Transcript	p.R15G	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	0	53	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	15					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.43C>G	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576373	0.28092	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.4	-2.85	0.05734	.	0.715638	0.13113	N	0.412834	T	0.22360	0.0539	N	0.12182	0.205	0.20403	N	0.99991	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.002	T	0.21655	-1.0239	9	0.72032	D	0.01	.	9.6949	0.40152	0.4439:0.2299:0.3262:0.0	.	15;15	E9PFV7;Q8WV60	.;PTCD2_HUMAN	G	15	.	ENSP00000308948:R15G	R	+	1	2	PTCD2	71652008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.600000	0.05693	-0.384000	0.07845	-0.264000	0.10439	CGA		0.627	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		G	71616252	C	G	71616252	3	3	270	1	0	0	0	0	1	0	0	0	12728	876	31	5	45	5	PTCD2	5	71616252	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	1309084	71616252	109299008	14	19239											
DDX41	51428	broad.mit.edu	37	chr5	176942773	176942773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtatttcttccgcacgcGctcatgtcgctcttcagaca	6	13	9	13	4	4	1	2	0	2	1	6	1	5	1	1	1	0	4	1	1	1	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:176942773G>A	ENST00000507955.1	-	6	1007	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	DDX41_ENST00000506965.1_Intron	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	162					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ttccgcacgcgctcatgtcgc	0.552																																						uc003mho.3																			0											c.(484-486)Cgc>Tgc		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.							131	126	128					5																	176942773		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176942773G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.484C>T	5.37:g.176942773G>A	ENSP00000422753:p.Arg162Cys					DDX41_uc003mhn.3_Missense_Mutation_p.R31C|DDX41_uc003mhp.3_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	p.R162C	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		5	505	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	162					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.484C>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521438	0.85600	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.29397	1.57;1.58	4.67	3.78	0.43462	.	0.060126	0.64402	D	0.000002	T	0.45074	0.1324	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.51482	-0.8700	10	0.62326	D	0.03	-13.4168	10.7436	0.46168	0.0:0.1927:0.8073:0.0	.	162	Q9UJV9	DDX41_HUMAN	C	180;162	ENSP00000330349:R180C;ENSP00000422753:R162C	ENSP00000330349:R180C	R	-	1	0	DDX41	176875379	0.999000	0.42202	0.201000	0.23476	0.995000	0.86356	5.191000	0.65110	1.291000	0.44653	0.655000	0.94253	CGC		0.552	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		A	176942773	G	A	176942773	3	1	270	1	0	0	0	0	1	0	0	0	4361	1087	38	1	1432	1	DDX41	5	176942773	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	105326521	176942773	3972487	15	19240											
MYLIP	29116	broad.mit.edu	37	chr6	16130808	16130808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgcaggcgactgggaatCatagaagttgactattttgg	10	12	14	5	1	1	2	1	1	0	1	1	4	1	3	0	3	1	2	0	3	4	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130808C>G	ENST00000356840.3	+	2	306	c.108C>G	c.(106-108)atC>atG	p.I36M	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	36	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GACTGGGAATCATAGAAGTTG	0.468																																						uc003nbq.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(106-108)atC>atG		Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.							126	131	129					6																	16130808		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16130808C>G	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.108C>G	6.37:g.16130808C>G	ENSP00000349298:p.Ile36Met					MYLIP_uc003nbr.3_Intron	p.I36M	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		1	345	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	36			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.108C>G	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494106	0.64186	.	.	ENSG00000007944	ENST00000356840	D	0.82167	-1.58	5.87	0.9	0.19278	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86907	0.2058	10	0.87932	D	0	.	10.3203	0.43762	0.0:0.4775:0.0:0.5225	.	36	Q8WY64	MYLIP_HUMAN	M	36	ENSP00000349298:I36M	ENSP00000349298:I36M	I	+	3	3	MYLIP	16238787	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	0.162000	0.16501	0.301000	0.22738	0.655000	0.94253	ATC		0.468	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		G	16130808	C	G	16130808	3	3	270	1	0	0	0	0	1	0	0	0	10055	816	29	5	114	5	MYLIP	6	16130808	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		16130808	154984259	16	19241											
MYLIP	29116	broad.mit.edu	37	chr6	16130886	16130886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaacctgagaaaccggatCtcccagcagatggatgggct	12	7	11	11	1	1	2	0	1	1	2	2	5	1	4	3	3	3	2	3	3	3	1	rs543355473		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130886C>T	ENST00000356840.3	+	2	384	c.186C>T	c.(184-186)atC>atT	p.I62I	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	62	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAAACCGGATCTCCCAGCAGA	0.473													C|||	1	0.000199681	0	0	5008	,	,		19016	0		0	False		,,,				2504	0.001					uc003nbq.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(184-186)atC>atT		Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.							105	106	105					6																	16130886		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16130886C>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.186C>T	6.37:g.16130886C>T						MYLIP_uc003nbr.3_Intron	p.I62I	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		1	423	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	62			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.186C>T	CCDS4536.1																																																																																				0.473	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		T	16130886	C	T	16130886	2	4	270	1	0	0	0	0	0	0	0	1	10055	903	32	3		3	MYLIP	6	16130886	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	78	16130886	154984181	17	19242											
TNXB	7148	broad.mit.edu	37	chr6	32012858	32012858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaacctgtagggggTgctgggctccaggcctgaga	8	6	19	8	0	0	1	0	1	0	1	1	5	1	3	3	6	2	3	3	6	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:32012858T>C	ENST00000375244.3	-	32	11053	c.10852A>G	c.(10852-10854)Acc>Gcc	p.T3618A	TNXB_ENST00000451343.1_Missense_Mutation_p.T47A|TNXB_ENST00000375247.2_Missense_Mutation_p.T3616A			P22105	TENX_HUMAN	tenascin XB	3663	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTAGGGGGTGCTGGGCTCC	0.642																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10846-10848)Acc>Gcc		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							39	33	35					6																	32012858		1508	2706	4214	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32012858T>C	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10852A>G	6.37:g.32012858T>C	ENSP00000364393:p.Thr3618Ala					TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	p.T3616A	NM_019105	NP_061978	P22105	TENX_HUMAN			31	11048	-			3663			Fibronectin type-III 28.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10846A>G		.	.	.	.	.	.	.	.	.	.	t	15.70	2.910067	0.52439	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.61627	0.09;0.09;0.09	4.85	3.62	0.41486	.	0.191609	0.36628	N	0.002492	T	0.45836	0.1362	M	0.72894	2.215	0.20074	N	0.999934	P	0.49559	0.925	P	0.51415	0.669	T	0.28681	-1.0036	10	0.24483	T	0.36	.	7.0067	0.24840	0.1443:0.0:0.1492:0.7064	.	3616	P22105-3	.	A	3618;47;3616	ENSP00000364393:T3618A;ENSP00000407685:T47A;ENSP00000364396:T3616A	ENSP00000364393:T3618A	T	-	1	0	TNXB	32120836	0.997000	0.39634	1.000000	0.80357	0.958000	0.62258	2.426000	0.44731	2.043000	0.60533	0.529000	0.55759	ACC		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		C	32012858	T	C	32012858	3	2	270	1	0	0	0	0	1	0	0	0	16343	1696	59	4	3919	4	TNXB	6	32012858	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	15881972	32012858	139102209	18	19243											
MLN	4295	broad.mit.edu	37	chr6	33768891	33768891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtctgggaggccagcatgGcagctacatgcaccaccagc	9	5	12	15	1	1	0	0	0	1	0	1	1	1	1	4	3	5	4	4	3	1	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:33768891G>A	ENST00000430124.2	-	2	115	c.50C>T	c.(49-51)gCc>gTc	p.A17V	MLN_ENST00000266003.5_Missense_Mutation_p.A17V|MLN_ENST00000507738.1_Missense_Mutation_p.A17V	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	17					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GGCCAGCATGGCAGCTACATG	0.567																																						uc003off.1																			0		p.A16T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(49-51)gCc>gTc		Homo sapiens motilin (MLN), transcript variant 1, mRNA.							105	93	97					6																	33768891		2203	4300	6503	SO:0001583	missense	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768891G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"Endogenous ligands"	7141	protein-coding gene	gene with protein product	"prepromotilin"	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.50C>T	6.37:g.33768891G>A	ENSP00000388825:p.Ala17Val					MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	p.A17V	NM_002418	NP_002409	P12872	MOTI_HUMAN			1	121	-			17					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	c.50C>T	CCDS4786.1	.	.	.	.	.	.	.	.	.	.	G	8.446	0.851909	0.17034	.	.	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.52526	0.66;0.66;0.67	5.43	2.67	0.31697	.	1.000980	0.08060	N	0.997977	T	0.23094	0.0558	L	0.50919	1.6	0.19775	N	0.999952	B;B;B	0.13145	0.001;0.007;0.007	B;B;B	0.11329	0.002;0.006;0.006	T	0.36866	-0.9730	10	0.49607	T	0.09	-0.0066	8.9396	0.35722	0.2429:0.0:0.7571:0.0	.	17;17;17	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	V	17	ENSP00000388825:A17V;ENSP00000266003:A17V;ENSP00000425467:A17V	ENSP00000266003:A17V	A	-	2	0	MLN	33876869	0.997000	0.39634	0.422000	0.26621	0.002000	0.02628	2.916000	0.48813	0.686000	0.31488	-0.136000	0.14681	GCC		0.567	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			A	33768891	G	A	33768891	3	1	270	1	0	0	0	0	1	0	0	0	9631	1203	42	3	313	3	MLN	6	33768891	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	1756033	33768891	137346176	19	19244											
SRPK1	6732	broad.mit.edu	37	chr6	35838178	35838178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccgactctttctccatttCctcaatttcctgcattcgct	5	16	4	16	2	3	0	1	0	2	0	7	1	5	0	4	0	1	2	4	0	1	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:35838178C>G	ENST00000373825.2	-	10	1156	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	SRPK1_ENST00000423325.2_Missense_Mutation_p.E275Q|SRPK1_ENST00000373822.1_Missense_Mutation_p.E184Q					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTCCATTTCCTCAATTTCC	0.438																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.3																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(871-873)Gaa>Caa		Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.							118	105	109					6																	35838178		1824	4070	5894	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35838178C>G	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.871G>C	6.37:g.35838178C>G	ENSP00000362931:p.Glu291Gln					SRPK1_uc003olh.3_Missense_Mutation_p.E184Q|SRPK1_uc003oli.3_Missense_Mutation_p.E184Q|SRPK1_uc011dtg.2_Missense_Mutation_p.E275Q	p.E291Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			9	995	-			291			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.871G>C	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889265	0.72524	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.31247	1.51;1.5;1.53;1.58	5.61	5.61	0.85477	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30166	0.0756	L	0.38953	1.18	0.58432	D	0.999996	P;D	0.60575	0.638;0.988	B;P	0.56216	0.387;0.794	T	0.00770	-1.1573	9	0.25751	T	0.34	-15.8318	19.6236	0.95670	0.0:1.0:0.0:0.0	.	275;291	B4DS61;Q96SB4	.;SRPK1_HUMAN	Q	291;307;275;184;29	ENSP00000362931:E291Q;ENSP00000354674:E307Q;ENSP00000391069:E275Q;ENSP00000362928:E184Q	ENSP00000354674:E307Q	E	-	1	0	SRPK1	35946156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.414000	0.66405	2.643000	0.89663	0.555000	0.69702	GAA		0.438	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		G	35838178	C	G	35838178	3	3	270	1	0	0	0	0	1	0	0	0	15158	864	30	5	1124	5	SRPK1	6	35838178	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	2069287	35838178	135276889	20	19245											
VPS41	27072	broad.mit.edu	37	chr7	38798055	38798055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttattatacagatctccaggCcattctcggatcaatgtggc	10	13	8	10	1	3	1	1	0	2	1	5	2	3	2	2	3	1	0	2	3	4	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:38798055C>A	ENST00000310301.4	-	18	1503	c.1449G>T	c.(1447-1449)tgG>tgT	p.W483C	VPS41_ENST00000395969.2_Missense_Mutation_p.W458C	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	483					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GATCTCCAGGCCATTCTCGGA	0.353																																						uc003tgy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1447-1449)tgG>tgT		Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.							129	125	126					7																	38798055		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38798055C>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1449G>T	7.37:g.38798055C>A	ENSP00000309457:p.Trp483Cys					VPS41_uc003tgz.3_Missense_Mutation_p.W458C|VPS41_uc010kxn.3_Missense_Mutation_p.W394C	p.W483C	NM_014396	NP_055211	P49754	VPS41_HUMAN			17	1475	-			483					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1449G>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928291	0.92389	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.54279	0.6;0.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82323	-0.0514	10	0.87932	D	0	-11.7456	20.6439	0.99570	0.0:1.0:0.0:0.0	.	483;458;483	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	C	483;458	ENSP00000309457:W483C;ENSP00000379297:W458C	ENSP00000309457:W483C	W	-	3	0	VPS41	38764580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TGG		0.353	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			A	38798055	C	A	38798055	3	1	270	1	0	0	0	0	1	0	0	0	17207	740	26	5	1163	5	VPS41	7	38798055	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		38798055	120340608	21	19246											
EGFR	1956	broad.mit.edu	37	chr7	55231506	55231506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggccatgaacatcacctGcacaggacgggtaagagccc	12	5	11	13	1	2	2	2	1	0	1	2	3	2	3	3	3	3	2	3	3	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:55231506G>C	ENST00000275493.2	+	14	1889	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	EGFR_ENST00000344576.2_Missense_Mutation_p.C571S|EGFR_ENST00000455089.1_Missense_Mutation_p.C526S|EGFR_ENST00000454757.2_Missense_Mutation_p.C518S|EGFR_ENST00000342916.3_Missense_Mutation_p.C571S|EGFR_ENST00000442591.1_Missense_Mutation_p.C571S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	571					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AACATCACCTGCACAGGACGG	0.557		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1711-1713)tGc>tCc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						133	124	127					7																	55231506		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55231506G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1712G>C	7.37:g.55231506G>C	ENSP00000275493:p.Cys571Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.C571S|EGFR_uc003tqj.3_Missense_Mutation_p.C571S|EGFR_uc022adm.1_Missense_Mutation_p.C571S|EGFR_uc010kzg.2_Missense_Mutation_p.C526S|EGFR_uc022adn.1_Missense_Mutation_p.C526S|EGFR_uc011kco.2_Missense_Mutation_p.C518S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.3_5'Flank	p.C571S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		13	1958	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		571					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1712G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774487	0.70107	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.65	5.65	0.86999	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.90265	0.4303	10	0.87932	D	0	.	18.3001	0.90160	0.0:0.0:1.0:0.0	.	526;571;571;571	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	526;571;441;571;571;571;518;365	ENSP00000415559:C526S;ENSP00000342376:C571S;ENSP00000345973:C571S;ENSP00000275493:C571S;ENSP00000410031:C571S;ENSP00000395243:C518S	ENSP00000275493:C571S	C	+	2	0	EGFR	55199000	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	9.098000	0.94202	2.678000	0.91216	0.655000	0.94253	TGC		0.557	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55231506	G	C	55231506	3	2	270	1	0	0	0	0	1	0	0	0	4967	1319	46	5	1777	5	EGFR	7	55231506	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	16433451	55231506	103907157	22	19247											
ASNS	440	broad.mit.edu	37	chr7	97483890	97483890	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatagcctctaaaaatattAcccatgggcagcagtagttc	14	10	7	10	0	1	0	0	0	1	0	2	0	1	0	2	1	3	4	2	1	8	6			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:97483890A>G	ENST00000394309.3	-	10	1710		c.e10+1		ASNS_ENST00000394308.3_Splice_Site|ASNS_ENST00000455086.1_Splice_Site|ASNS_ENST00000175506.4_Splice_Site|ASNS_ENST00000444334.1_Splice_Site|ASNS_ENST00000422745.1_Splice_Site|ASNS_ENST00000437628.1_Splice_Site	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TAAAAATATTACCCATGGGCA	0.383																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.4																			0				ovary(1)	1						c.e10+1		Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						58	64	62					7																	97483890		2203	4300	6503	SO:0001630	splice_region_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97483890A>G	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1238+1T>C	7.37:g.97483890A>G						ASNS_uc011kin.2_Splice_Site_p.G330_splice|ASNS_uc011kio.2_Splice_Site_p.G392_splice|ASNS_uc003uou.4_Splice_Site_p.G413_splice|ASNS_uc003uov.4_Splice_Site_p.G413_splice|ASNS_uc003uox.4_Splice_Site_p.G330_splice	p.G413_splice	NM_133436	NP_001171548	P08243	ASNS_HUMAN			10	1744	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		413			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Splice_Site	SNP	ENST00000394309.3	37	c.1238_splice	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.364853	0.41902	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	.	.	.	3.11	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9332	0.41534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASNS	97321826	1.000000	0.71417	0.299000	0.25016	0.246000	0.25737	8.150000	0.89634	1.685000	0.51034	0.460000	0.39030	.		0.383	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356	Intron	G	97483890	A	G	97483890	5	3	270	1	0	0	0	0	0	0	1	0	1048	405	14	4	461	4	ASNS	7	97483890	Splice_Site	SNP	A	TCGA-76-6282-01A-11D-1696-08	42252384	97483890	61654773	23	19248											
OR2A25	392138	broad.mit.edu	37	chr7	143771890	143771890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctgtgcggatacccacaTtaatgaggtaatggttttgg	9	13	12	7	1	0	1	0	1	0	0	0	2	0	2	2	4	3	2	2	4	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:143771890T>C	ENST00000408898.2	+	1	616	c.578T>C	c.(577-579)aTt>aCt	p.I193T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATACCCACATTAATGAGGTA	0.433																																						uc011ktx.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(577-579)aTt>aCt		Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.							145	149	148					7																	143771890		2048	4229	6277	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771890T>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.578T>C	7.37:g.143771890T>C	ENSP00000386167:p.Ile193Thr						p.I193T	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			0	578	+	Melanoma(164;0.0783)		193					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.578T>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	T	3.391	-0.124320	0.06795	.	.	ENSG00000221933	ENST00000408898	T	0.00183	8.6	4.84	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.39566	1.225	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.39761	-0.9598	9	0.44086	T	0.13	-3.152	0.8644	0.01200	0.1584:0.1775:0.1643:0.4998	.	193	A4D2G3	O2A25_HUMAN	T	193	ENSP00000386167:I193T	ENSP00000386167:I193T	I	+	2	0	OR2A25	143402823	0.000000	0.05858	0.015000	0.15790	0.279000	0.26890	0.053000	0.14184	0.033000	0.15463	0.460000	0.39030	ATT		0.433	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			C	143771890	T	C	143771890	3	2	270	1	0	0	0	0	1	0	0	0	10978	1493	52	4	580	4	OR2A25	7	143771890	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	46288000	143771890	15366773	24	19249											
IKBKB	3551	broad.mit.edu	37	chr8	42163910	42163910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaaggagctggatcaggGcagtctttgcacatcattcg	9	10	12	10	1	3	0	2	0	1	0	4	2	3	2	1	3	3	3	1	3	1	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:42163910G>A	ENST00000520810.1	+	7	713	c.527G>A	c.(526-528)gGc>gAc	p.G176D	IKBKB_ENST00000520835.1_Missense_Mutation_p.G174D|IKBKB_ENST00000416505.2_Missense_Mutation_p.G117D|IKBKB_ENST00000519735.1_Missense_Mutation_p.G176D|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGGATCAGGGCAGTCTTTGC	0.478																																						uc003xow.2																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(526-528)gGc>gAc		Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	Arsenic trioxide(DB01169)|Auranofin(DB00995)						127	119	122					8																	42163910		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163910G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.527G>A	8.37:g.42163910G>A	ENSP00000430684:p.Gly176Asp					IKBKB_uc003xov.3_Missense_Mutation_p.G176D|IKBKB_uc010lxh.2_Missense_Mutation_p.G71D|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.G174D|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.G117D	p.G176D	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		6	713	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	176			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.527G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865769	0.91511	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138925	0.64402	D	0.000003	T	0.55162	0.1903	L	0.42008	1.315	0.80722	D	1	P;B;B;B;B	0.40578	0.722;0.046;0.014;0.006;0.005	B;B;B;B;B	0.41374	0.355;0.049;0.033;0.052;0.009	T	0.53858	-0.8379	10	0.05959	T	0.93	.	18.9321	0.92570	0.0:0.0:1.0:0.0	.	117;174;127;176;176	B4E0U4;O14920-2;Q59GL9;O14920;Q32ND9	.;.;.;IKKB_HUMAN;.	D	176;117;176;174	ENSP00000430684:G176D;ENSP00000404920:G117D;ENSP00000430483:G176D;ENSP00000430868:G174D	ENSP00000404920:G117D	G	+	2	0	IKBKB	42283067	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.809000	0.99208	2.535000	0.85469	0.655000	0.94253	GGC		0.478	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42163910	G	A	42163910	3	1	270	1	0	0	0	0	1	0	0	0	7611	1203	42	3	549	3	IKBKB	8	42163910	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		42163910	104200112	25	19250											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886131	88886131	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtagcatggaaggtgcattGagtcccactctgactgtctt	8	12	11	10	1	2	2	0	2	2	0	3	3	3	3	1	2	2	3	1	2	2	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:88886131G>C	ENST00000319675.3	-	1	165	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	23										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGGTGCATTGAGTCCCACTC	0.532																																						uc003ydz.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(67-69)ctC>ctG		Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.							76	71	73					8																	88886131		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88886131G>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.69C>G	8.37:g.88886131G>C							p.L23L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			0	166	-			23						Silent	SNP	ENST00000319675.3	37	c.69C>G	CCDS6245.1																																																																																				0.532	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		C	88886131	G	C	88886131	2	2	270	1	0	0	0	0	0	0	0	1	4272	1277	45	5		5	DCAF4L2	8	88886131	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08	46722221	88886131	57477891	26	19251											
RIMS2	9699	broad.mit.edu	37	chr8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattataatacaattagcCgaatggacagacatcgtgtc	15	10	8	8	2	0	1	0	0	0	1	2	4	0	2	1	1	2	0	1	1	6	4	rs201715496		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:105001597C>T	ENST00000436393.2	+	15	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R837*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R998*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R790*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1060					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)																												uc003yls.3																			0		p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2326-2328)Cga>Tga		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							122	120	121					8																	105001597		1870	4094	5964	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001597C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2326C>T	8.37:g.105001597C>T	ENSP00000390665:p.Arg776*	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	p.R776*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2567	+			1060					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2326C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.178250	0.98691	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.2307	0.59941	0.2845:0.7155:0.0:0.0	.	.	.	.	X	998;1013;998;1060;837;790;790;776	.	ENSP00000262231:R837X	R	+	1	2	RIMS2	105070773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.921000	0.40035	2.617000	0.88574	0.484000	0.47621	CGA		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	105001597	C	T	105001597	4	4	270	1	0	0	0	0	0	1	0	0	13368	644	23	2	3184	2	RIMS2	8	105001597	Nonsense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	16115466	105001597	41362425	27	19252											
COLEC10	10584	broad.mit.edu	37	chr8	120101985	120101985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgggacgcatggggcCgaaaggtaactaaaatgatg	15	6	14	6	2	0	1	0	1	0	0	0	3	0	2	1	4	1	2	1	4	5	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:120101985C>T	ENST00000332843.2	+	2	256	c.215C>T	c.(214-216)cCg>cTg	p.P72L	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	72	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CGCATGGGGCCGAAAGGTAAC	0.413																																						uc003yoo.3																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(214-216)cCg>cTg		Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.							119	103	108					8																	120101985		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120101985C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.215C>T	8.37:g.120101985C>T	ENSP00000332723:p.Pro72Leu						p.P72L	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		1	312	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		72			Collagen-like.		Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.215C>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811692	0.32053	.	.	ENSG00000184374	ENST00000332843	D	0.90955	-2.76	5.91	5.91	0.95273	.	0.359400	0.30959	N	0.008523	D	0.87684	0.6239	L	0.38531	1.155	0.58432	D	0.999992	P	0.39094	0.659	B	0.41860	0.368	D	0.85623	0.1265	10	0.29301	T	0.29	-4.9476	15.7986	0.78433	0.0:1.0:0.0:0.0	.	72	Q9Y6Z7	COL10_HUMAN	L	72	ENSP00000332723:P72L	ENSP00000332723:P72L	P	+	2	0	COLEC10	120171166	0.966000	0.33281	0.747000	0.31113	0.101000	0.19017	4.021000	0.57196	2.793000	0.96121	0.655000	0.94253	CCG		0.413	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			T	120101985	C	T	120101985	3	4	270	1	0	0	0	0	1	0	0	0	3710	652	23	2	221	2	COLEC10	8	120101985	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	15100388	120101985	26262037	28	19253											
FAM75A3	727830	broad.mit.edu	37	chr9	40702866	40702866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcaccaggcccaatgAccacctcagtctcctcccta	9	7	4	21	0	3	1	2	1	1	0	5	1	4	1	8	1	0	0	8	1	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:40702866A>T	ENST00000356699.5	+	4	552	c.523A>T	c.(523-525)Acc>Tcc	p.T175S	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	175	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGCCCAATGACCACCTCAGT	0.592																																						uc010mmj.3																			0				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26						c.(523-525)Acc>Tcc		Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.							6	6	6					9																	40702866		1067	2789	3856	SO:0001583	missense	727830					integral to membrane		g.chr9:40702866A>T			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.523A>T	9.37:g.40702866A>T	ENSP00000349132:p.Thr175Ser						p.T175S	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	3	552	+			175			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.523A>T	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531811	0.27387	.	.	ENSG00000147926	ENST00000356699	T	0.04317	3.65	2.19	2.19	0.27852	.	1.239200	0.06065	N	0.659093	T	0.04407	0.0121	L	0.34521	1.04	0.09310	N	1	B	0.29552	0.248	B	0.26202	0.067	T	0.42666	-0.9438	10	0.21540	T	0.41	-0.4567	6.3045	0.21131	1.0:0.0:0.0:0.0	.	175	Q5VYP0	F75A3_HUMAN	S	175	ENSP00000349132:T175S	ENSP00000349132:T175S	T	+	1	0	FAM75A3	40692866	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	-0.910000	0.04054	1.259000	0.44117	0.332000	0.21555	ACC		0.592	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		T	40702866	A	T	40702866	3	4	270	1	0	0	0	0	1	0	0	0	5621	275	10	5	537	5	FAM75A3	9	40702866	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08		40702866	100510565	29	19254											
OR52B4	143496	broad.mit.edu	37	chr11	4389252	4389252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatccagggagatgtcccCagcacggaaccagaagatag	14	4	12	11	2	0	3	0	0	0	3	2	6	2	4	4	2	2	1	4	2	3	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:4389252C>T	ENST00000408920.2	-	1	364	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	92					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGATGTCCCCAGCACGGAAC	0.527																																						uc010qye.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(274-276)Ggg>Agg		Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.							96	101	100					11																	4389252		2154	4252	6406	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389252C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"GPCR / Class A : Olfactory receptors"	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.274G>A	11.37:g.4389252C>T	ENSP00000386160:p.Gly92Arg						p.G92R	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	365	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	92					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.274G>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.990640	0.00439	.	.	ENSG00000221996	ENST00000408920	T	0.35973	1.28	5.28	-0.0518	0.13825	GPCR, rhodopsin-like superfamily (1);	0.322048	0.27088	N	0.020999	T	0.11495	0.0280	N	0.03903	-0.33	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.36089	-0.9762	10	0.02654	T	1	.	7.8934	0.29691	0.0:0.3858:0.0:0.6142	.	92	Q8NGK2	O52B4_HUMAN	R	92	ENSP00000386160:G92R	ENSP00000386160:G92R	G	-	1	0	OR52B4	4345828	0.000000	0.05858	0.087000	0.20705	0.169000	0.22640	-0.095000	0.11077	0.107000	0.17824	0.650000	0.86243	GGG		0.527	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		T	4389252	C	T	4389252	3	4	270	1	0	0	0	0	1	0	0	0	11112	594	21	3	674	3	OR52B4	11	4389252	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		4389252	130617264	30	19255											
ANO5	203859	broad.mit.edu	37	chr11	22296134	22296134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttattgttgcatttaCgtcagacatcattccccgtc	7	15	7	12	2	2	1	2	0	0	1	4	1	3	1	3	1	2	2	3	1	2	7	rs373471188		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:22296134C>T	ENST00000324559.8	+	20	2572	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	752					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363																																						uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2254-2256)aCg>aTg		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.		C	MET/THR,MET/THR	0,4406		0,0,2203	114	103	107		2252,2255	5.2	0.9	11		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANO5	NM_001142649.1,NM_213599.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	751/913,752/914	22296134	1,13005	2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296134C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2255C>T	11.37:g.22296134C>T	ENSP00000315371:p.Thr752Met					ANO5_uc001mqj.2_Missense_Mutation_p.T751M	p.T752M	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			19	2572	+			752						Missense_Mutation	SNP	ENST00000324559.8	37	c.2255C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005696	0.74932	0.0	1.16E-4	ENSG00000171714	ENST00000324559	T	0.66280	-0.2	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90071	0.4163	10	0.87932	D	0	.	19.2413	0.93886	0.0:1.0:0.0:0.0	.	752	Q75V66	ANO5_HUMAN	M	752	ENSP00000315371:T752M	ENSP00000315371:T752M	T	+	2	0	ANO5	22252710	1.000000	0.71417	0.914000	0.36105	0.509000	0.34042	5.986000	0.70563	2.614000	0.88457	0.555000	0.69702	ACG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		T	22296134	C	T	22296134	3	4	270	1	0	0	0	0	1	0	0	0	700	536	19	1	2333	1	ANO5	11	22296134	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	17906882	22296134	112710382	31	19256											
OR8K3	219473	broad.mit.edu	37	chr11	56085826	56085826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaatgaattcattcttaCgggaatcacagatatcgctg	12	12	10	7	2	3	3	2	2	1	1	4	4	3	4	0	2	1	1	0	2	5	4	rs149952066	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:56085826C>T	ENST00000312711.1	+	1	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(43-45)aCg>aTg		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.		C	MET/THR	0,4402		0,0,2201	150	136	140		44	-0.3	0.2	11	dbSNP_134	140	2,8588	2.2+/-6.3	0,2,4293	no	missense	OR8K3	NM_001005202.1	81	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	15/313	56085826	2,12990	2201	4295	6496	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085826C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.44C>T	11.37:g.56085826C>T	ENSP00000323555:p.Thr15Met						p.T15M	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	44	+	Esophageal squamous(21;0.00448)		15					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.44C>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.631331	0.00115	0.0	2.33E-4	ENSG00000181689	ENST00000312711	T	0.00421	7.46	4.84	-0.285	0.12866	.	1.071090	0.07145	N	0.848012	T	0.00178	0.0005	N	0.03115	-0.41	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.10245	-1.0638	10	0.11485	T	0.65	.	8.0648	0.30654	0.0:0.2598:0.0:0.7402	.	15	Q8NH51	OR8K3_HUMAN	M	15	ENSP00000323555:T15M	ENSP00000323555:T15M	T	+	2	0	OR8K3	55842402	0.039000	0.19947	0.154000	0.22540	0.012000	0.07955	0.379000	0.20585	0.062000	0.16340	-0.501000	0.04562	ACG		0.423	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		T	56085826	C	T	56085826	3	4	270	1	0	0	0	0	1	0	0	0	11244	536	19	1	46	1	OR8K3	11	56085826	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	33789692	56085826	78920690	32	19257											
PANX1	24145	broad.mit.edu	37	chr11	93911644	93911644	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttgaagtttatcatggAagaacttgacaaagtttaca	16	12	8	5	0	1	4	1	2	0	2	1	5	1	5	0	1	2	2	0	1	6	6			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:93911644A>T	ENST00000227638.3	+	3	816	c.431A>T	c.(430-432)gAa>gTa	p.E144V	PANX1_ENST00000436171.2_Missense_Mutation_p.E144V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	144					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTATCATGGAAGAACTTGAC	0.502																																						uc001per.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(430-432)gAa>gTa		Homo sapiens pannexin 1 (PANX1), mRNA.							111	96	101					11																	93911644		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911644A>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.431A>T	11.37:g.93911644A>T	ENSP00000227638:p.Glu144Val					PANX1_uc001peq.3_Missense_Mutation_p.E144V	p.E144V	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			2	816	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	144					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.431A>T	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733982	0.89482	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.32515	1.45;1.45	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58092	-0.7697	10	0.48119	T	0.1	-27.1042	15.0086	0.71533	1.0:0.0:0.0:0.0	.	144;144	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	V	144	ENSP00000227638:E144V;ENSP00000411461:E144V	ENSP00000227638:E144V	E	+	2	0	PANX1	93551292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.771000	0.91751	1.945000	0.56424	0.460000	0.39030	GAA		0.502	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		T	93911644	A	T	93911644	3	4	270	1	0	0	0	0	1	0	0	0	11420	246	9	5	441	5	PANX1	11	93911644	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	37825818	93911644	41094872	33	19258											
UBE4A	9354	broad.mit.edu	37	chr11	118255613	118255613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttttcctccgctttcttAacctgctaatgaatgatgcc	8	15	5	13	1	1	2	0	2	1	0	3	2	3	2	4	0	3	2	4	0	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:118255613A>T	ENST00000431736.2	+	15	2458	c.2386A>T	c.(2386-2388)Aac>Tac	p.N796Y	UBE4A_ENST00000545354.1_Missense_Mutation_p.N261Y|UBE4A_ENST00000252108.3_Missense_Mutation_p.N789Y					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCGCTTTCTTAACCTGCTAAT	0.373																																						uc001psw.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(2365-2367)Aac>Tac		Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.							118	127	124					11																	118255613		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118255613A>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2386A>T	11.37:g.118255613A>T	ENSP00000387362:p.Asn796Tyr					UBE4A_uc001psv.3_Missense_Mutation_p.N796Y	p.N789Y	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	14	2500	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	789						Missense_Mutation	SNP	ENST00000431736.2	37	c.2365A>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711958	0.89112	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.52754	0.65;0.65;0.65	5.97	5.97	0.96955	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.76575	0.961;0.988	T	0.75326	-0.3357	10	0.87932	D	0	-16.3377	16.4608	0.84044	1.0:0.0:0.0:0.0	.	789;796	Q14139;Q14139-2	UBE4A_HUMAN;.	Y	789;796;261	ENSP00000252108:N789Y;ENSP00000387362:N796Y;ENSP00000438918:N261Y	ENSP00000252108:N789Y	N	+	1	0	UBE4A	117760823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	AAC		0.373	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		T	118255613	A	T	118255613	3	4	270	1	0	0	0	0	1	0	0	0	16879	362	13	5	2440	5	UBE4A	11	118255613	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	24343969	118255613	16750903	34	19259											
ITPR2	3709	broad.mit.edu	37	chr12	26868282	26868282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagtagctgattggcGcaaggtcgtacgaaggaaaa	15	6	14	6	3	0	2	0	1	0	1	1	4	0	3	0	3	3	5	0	3	7	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr12:26868282G>A	ENST00000381340.3	-	8	1221	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	269	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.|MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCTGATTGGCGCAAGGTCGTA	0.363																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(805-807)Cgc>Tgc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							144	143	144					12																	26868282		1874	4105	5979	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26868282G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.805C>T	12.37:g.26868282G>A	ENSP00000370744:p.Arg269Cys						p.R269C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			7	1222	-	Colorectal(261;0.0847)		269			Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.805C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314935	0.81358	.	.	ENSG00000123104	ENST00000381340	D	0.89485	-2.52	4.75	3.81	0.43845	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94896	0.8052	10	0.59425	D	0.04	.	14.4067	0.67088	0.0:0.0:0.8522:0.1478	.	269	Q14571	ITPR2_HUMAN	C	269	ENSP00000370744:R269C	ENSP00000370744:R269C	R	-	1	0	ITPR2	26759549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.232000	0.58645	2.464000	0.83262	0.650000	0.86243	CGC		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26868282	G	A	26868282	3	1	270	1	0	0	0	0	1	0	0	0	7921	1087	38	1	7500	1	ITPR2	12	26868282	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		26868282	106983613	35	19260											
MTUS2	23281	broad.mit.edu	37	chr13	29600584	29600584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacgcttgttgaacacGtcccccaaagtgcctgacaa	11	8	9	13	2	0	2	0	2	0	0	1	2	1	2	3	0	3	3	3	0	3	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr13:29600584G>A	ENST00000431530.3	+	1	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	583						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552																																						uc001usl.4																			2	Substitution - coding silent(2)	p.T593T(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1777-1779)acG>acA		Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.							69	73	72					13																	29600584		1980	4159	6139	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600584G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1779G>A	13.37:g.29600584G>A							p.T593T	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			0	1837	+			583					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1779G>A	CCDS45022.1																																																																																				0.552	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29600584	G	A	29600584	2	1	270	1	0	0	0	0	0	0	0	1	9966	1132	40	1		1	MTUS2	13	29600584	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		29600584	85569294	36	19261											
OTX2	5015	broad.mit.edu	37	chr14	57269020	57269020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgttttgacctccattCtgctgttgttgctgttgttg	3	21	9	8	0	1	1	0	1	1	0	2	1	2	1	2	0	2	7	2	0	0	8			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr14:57269020C>A	ENST00000555006.1	-	4	711	c.303G>T	c.(301-303)caG>caT	p.Q101H	OTX2_ENST00000554559.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.Q101H|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.Q109H			P32243	OTX2_HUMAN	orthodenticle homeobox 2	101	Poly-Gln.				axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACCTCCATTCTGCTGTTGTT	0.448																																						uc001xcq.3																			0		p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(325-327)caG>caT		Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.							107	110	109					14																	57269020		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57269020C>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.303G>T	14.37:g.57269020C>A	ENSP00000452336:p.Gln101His					OTX2_uc001xcp.3_Missense_Mutation_p.Q101H|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.Q101H	p.Q109H	NM_021728	NP_068374	P32243	OTX2_HUMAN			4	601	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		101					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.327G>T	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189483	0.38707	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.92149	-2.8;-2.8;-2.8;-2.85;-2.98	5.78	4.9	0.64082	.	0.000000	0.40554	N	0.001076	D	0.94112	0.8112	M	0.84326	2.69	0.80722	D	1	P;P	0.52577	0.954;0.943	P;P	0.50617	0.646;0.547	D	0.94427	0.7646	10	0.72032	D	0.01	.	13.4468	0.61146	0.0:0.9242:0.0:0.0758	.	109;101	F1T0D1;P32243	.;OTX2_HUMAN	H	109;101;101;109;101	ENSP00000343819:Q109H;ENSP00000386185:Q101H;ENSP00000452336:Q101H;ENSP00000451357:Q109H;ENSP00000451272:Q101H	ENSP00000343819:Q109H	Q	-	3	2	OTX2	56338773	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.708000	0.47152	1.461000	0.47929	0.455000	0.32223	CAG		0.448	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		A	57269020	C	A	57269020	3	1	270	1	0	0	0	0	1	0	0	0	11321	912	32	5	570	5	OTX2	14	57269020	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		57269020	50080520	37	19262											
VPS18	57617	broad.mit.edu	37	chr15	41193044	41193044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgcccgtggccggccGgactcactactggcctatct	5	10	11	15	3	2	0	1	0	1	0	2	1	2	1	4	4	2	1	4	4	3	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:41193044G>A	ENST00000220509.5	+	4	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	676					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647																																						uc001zne.3																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2026-2028)ccG>ccA		Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.							78	72	74					15																	41193044		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41193044G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2028G>A	15.37:g.41193044G>A							p.P676P	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	3	2367	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	676					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2028G>A	CCDS10069.1																																																																																				0.647	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			A	41193044	G	A	41193044	2	1	270	1	0	0	0	0	0	0	0	1	17191	1103	39	2		2	VPS18	15	41193044	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		41193044	61338348	38	19263											
SLC27A2	11001	broad.mit.edu	37	chr15	50475097	50475097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgaaggtgctgctggtgtCgccaggtgagccccgaggat	6	7	18	10	3	0	1	0	1	0	0	1	4	0	2	3	5	3	2	3	5	1	0			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:50475097C>T	ENST00000267842.5	+	1	705	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.S158L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	158					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGCTGGTGTCGCCAGGTGAG	0.652																																						uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)tCg>tTg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							69	75	73					15																	50475097		2194	4293	6487	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50475097C>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.473C>T	15.37:g.50475097C>T	ENSP00000267842:p.Ser158Leu					SLC27A2_uc010bes.3_Missense_Mutation_p.S158L	p.S158L	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	0	705	+		all_lung(180;0.00177)	158					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.473C>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696014	0.48202	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.50813	0.73;0.73	4.42	4.42	0.53409	AMP-dependent synthetase/ligase (1);	0.438298	0.22041	N	0.065449	T	0.40222	0.1108	L	0.59436	1.845	0.28947	N	0.890631	B;P	0.37276	0.148;0.589	B;B	0.30105	0.111;0.111	T	0.52335	-0.8589	10	0.87932	D	0	.	10.7017	0.45931	0.0:0.8062:0.1938:0.0	.	158;158	Q6PF09;O14975	.;S27A2_HUMAN	L	158	ENSP00000370289:S158L;ENSP00000267842:S158L	ENSP00000267842:S158L	S	+	2	0	SLC27A2	48262389	0.003000	0.15002	0.701000	0.30321	0.868000	0.49771	0.629000	0.24538	2.446000	0.82766	0.561000	0.74099	TCG		0.652	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		T	50475097	C	T	50475097	3	4	270	1	0	0	0	0	1	0	0	0	14526	893	31	2	475	2	SLC27A2	15	50475097	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	9282053	50475097	52056295	39	19264											
ITGA11	22801	broad.mit.edu	37	chr15	68641185	68641185	+	Frame_Shift_Del	DEL	A	A	-																															tacctccaccacgtgcgaggAaaagcccgtctgtgacatct																										TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:68641185delA	ENST00000315757.7	-	10	1200	c.1114delT	c.(1114-1116)tccfs	p.S373fs	ITGA11_ENST00000562826.1_5'Flank|ITGA11_ENST00000423218.2_Frame_Shift_Del_p.S373fs	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	373					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ACGTGCGAGGAAAAGCCCGTC	0.562																																						uc010bib.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(1114-1116)tccfs		Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	Tirofiban(DB00775)						82	92	89					15																	68641185		2050	4190	6240	SO:0001589	frameshift_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68641185delA	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1114delT	15.37:g.68641185delA	ENSP00000327290:p.Ser373fs					ITGA11_uc002ari.3_Frame_Shift_Del_p.S372fs	p.S372fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			9	1201	-			372					J3KQM2|Q8WYI8|Q9UKQ1	Frame_Shift_Del	DEL	ENST00000315757.7	37	c.1114delT	CCDS45291.1																																																																																				0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		-	68641185	A	-	68641185	7	5	270	1	0	1	0	1	0	0	0	0	7874	246	9	0	2536	0	ITGA11	15	68641185	Frame_Shift_Del	DEL	A	TCGA-76-6282-01A-11D-1696-08	18166088	68641185	33890207	40	19265											
TARSL2	123283	broad.mit.edu	37	chr15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtttccatttccggattgCcctcccaatatgttgaggaa	9	14	8	10	1	0	1	0	1	0	0	3	3	3	3	4	2	1	2	4	2	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:102242566C>T	ENST00000335968.3	-	9	1313	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	366					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353																																						uc002bxm.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1096-1098)gGc>gAc		Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.							132	117	122					15																	102242566		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242566C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1097G>A	15.37:g.102242566C>T	ENSP00000338093:p.Gly366Asp					TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	p.G366D	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1152	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		366					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1097G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174082	0.78452	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.48	4.57	0.56435	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.049228	0.85682	N	0.000000	D	0.82614	0.5075	H	0.98027	4.13	0.80722	D	1	P	0.43314	0.803	P	0.47827	0.558	D	0.86781	0.1979	9	0.59425	D	0.04	-9.0206	12.098	0.53765	0.0:0.917:0.0:0.083	.	366	A2RTX5	SYTC2_HUMAN	D	366;271;366	.	ENSP00000329291:G271D	G	-	2	0	TARSL2	100060089	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	4.767000	0.62286	1.323000	0.45263	0.655000	0.94253	GGC		0.353	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		T	102242566	C	T	102242566	3	4	270	1	0	0	0	0	1	0	0	0	15558	739	26	3	1355	3	TARSL2	15	102242566	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	33601381	102242566	288826	41	19266											
MSLNL	401827	broad.mit.edu	37	chr16	830269	830269	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctgcttgaggccagaGgacatggaggaacttctgga	9	8	17	7	0	2	2	0	1	2	1	2	6	2	6	1	7	2	1	1	7	1	2	rs373553451	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:830269G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.S244S			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGAGGCCAGAGGACATGGAGG	0.677													G|||	3	0.000599042	0.0023	0	5008	,	,		19192	0		0	False		,,,				2504	0					uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(730-732)tcC>tcT		Homo sapiens mesothelin-like (MSLNL), mRNA.		G		11,4013		0,11,2001	27	30	29		732	-0.6	0	16		29	0,8346		0,0,4173	no	coding-synonymous	MSLNL	NM_001025190.1		0,11,6174	AA,AG,GG		0.0,0.2734,0.0889		244/1054	830269	11,12359	2012	4173	6185	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830269G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-107C>T	16.37:g.830269G>A							p.S244S	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			2	732	-			0						Silent	SNP	ENST00000442466.1	37	c.732C>T																																																																																					0.677	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		A	830269	G	A	830269	1	1	270	0	1	0	0	0	0	0	0	0	9882	987	35	3		3	MSLNL	16	830269	Intron	SNP	G	TCGA-76-6282-01A-11D-1696-08		830269	89524484	42	19267											
SRRM2	23524	broad.mit.edu	37	chr16	2812977	2812977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccacccagacgcagtcgCtccagttcttctccgccacc	7	7	7	20	4	2	1	0	0	2	1	5	1	3	1	6	0	0	3	6	0	0	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2812977C>T	ENST00000301740.8	+	11	2997	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	816	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACGCAGTCGCTCCAGTTCTT	0.498																																						uc002crk.3																			0		p.R816H(1)|p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2446-2448)cgC>cgT		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							217	219	218					16																	2812977		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812977C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2448C>T	16.37:g.2812977C>T						SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	p.R816R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	2997	+			816			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.2448C>T	CCDS32373.1																																																																																				0.498	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2812977	C	T	2812977	2	4	270	1	0	0	0	0	0	0	0	1	15168	784	28	3		3	SRRM2	16	2812977	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	1982708	2812977	87541776	43	19268											
SRRM2	23524	broad.mit.edu	37	chr16	2813966	2813966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgactcttcttcatatcCtacagtggactcgaattctc	8	15	6	12	1	5	1	1	1	4	0	8	3	6	2	1	1	1	0	1	1	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2813966C>G	ENST00000301740.8	+	11	3986	c.3437C>G	c.(3436-3438)cCt>cGt	p.P1146R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1146	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCATATCCTACAGTGGAC	0.468																																						uc002crk.3																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3436-3438)cCt>cGt		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							88	93	91					16																	2813966		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813966C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3437C>G	16.37:g.2813966C>G	ENSP00000301740:p.Pro1146Arg					SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	p.P1146R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	3986	+			1146			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3437C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678934	0.03378	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92595	-3.07	5.92	2.97	0.34412	.	0.472392	0.21904	N	0.067410	D	0.86908	0.6046	L	0.53249	1.67	0.09310	N	1	B	0.29085	0.232	B	0.32533	0.147	T	0.70270	-0.4918	10	0.06236	T	0.91	-6.7403	8.1935	0.31383	0.0:0.7624:0.0:0.2376	.	1146	Q9UQ35	SRRM2_HUMAN	R	1146;1146;398	ENSP00000301740:P1146R	ENSP00000301740:P1146R	P	+	2	0	SRRM2	2753967	0.003000	0.15002	0.002000	0.10522	0.039000	0.13416	0.153000	0.16323	0.433000	0.26313	-0.136000	0.14681	CCT		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2813966	C	G	2813966	3	3	270	1	0	0	0	0	1	0	0	0	15168	681	24	5	3475	5	SRRM2	16	2813966	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	989	2813966	87540787	44	19269											
GRIN2A	2903	broad.mit.edu	37	chr16	9857538	9857538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatcgtaggaatgctgaCggctaatccttagcttgttc	8	15	10	8	2	0	1	0	1	0	0	3	2	1	2	1	2	2	6	1	2	5	6			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:9857538C>T	ENST00000396573.2	-	14	4172	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1288H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1288H|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1288					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGAATGCTGACGGCTAATCCT	0.537																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3862-3864)cGt>cAt		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						133	111	118					16																	9857538		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857538C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3863G>A	16.37:g.9857538C>T	ENSP00000379818:p.Arg1288His					GRIN2A_uc002czo.4_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	p.R1288H	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4173	-			1288					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3863G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332432	0.81801	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.53206	0.63;0.63;0.63	5.81	5.81	0.92471	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73742	-0.3887	9	.	.	.	.	19.0707	0.93134	0.0:1.0:0.0:0.0	.	1288	Q12879	NMDE1_HUMAN	H	1288	ENSP00000379818:R1288H;ENSP00000332549:R1288H;ENSP00000379820:R1288H	.	R	-	2	0	GRIN2A	9765039	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.395000	0.79876	2.746000	0.94184	0.655000	0.94253	CGT		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9857538	C	T	9857538	3	4	270	1	0	0	0	0	1	0	0	0	6779	536	19	1	535	1	GRIN2A	16	9857538	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	7043572	9857538	80497215	45	19270											
MYH13	8735	broad.mit.edu	37	chr17	10233822	10233822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaaaagtcccaggaGcccagctttgaaaaacacct	13	7	6	15	0	0	1	0	1	0	0	3	2	3	2	5	1	3	1	5	1	4	1	rs201786434		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:10233822G>T	ENST00000418404.3	-	20	2480	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.L773I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	773	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTCCCAGGAGCCCAGCTTTG	0.557																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2317-2319)Ctc>Atc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							58	60	59					17																	10233822		2116	4273	6389	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10233822G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2317C>A	17.37:g.10233822G>T	ENSP00000404570:p.Leu773Ile						p.L773I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			20	2407	-			773			Actin-binding (By similarity).|Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2317C>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266049	0.80358	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.72051	-0.62	3.94	3.94	0.45596	Myosin head, motor domain (1);	.	.	.	.	T	0.67646	0.2915	L	0.58969	1.84	0.40304	D	0.978649	B	0.06786	0.001	B	0.31337	0.128	T	0.65936	-0.6047	9	0.37606	T	0.19	.	10.2502	0.43364	0.0917:0.0:0.9083:0.0	.	773	Q9UKX3	MYH13_HUMAN	I	773;448	ENSP00000252172:L773I	ENSP00000252172:L773I	L	-	1	0	MYH13	10174547	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.622000	0.67750	2.190000	0.69967	0.563000	0.77884	CTC		0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10233822	G	T	10233822	3	4	270	1	0	0	0	0	1	0	0	0	10032	971	34	5	3583	5	MYH13	17	10233822	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		10233822	70961388	46	19271											
KRT33A	3883	broad.mit.edu	37	chr17	39506758	39506758	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgaccgctcccggaTgaggttctccagctccgcgt	4	10	12	15	4	1	2	0	2	1	0	4	3	3	3	4	2	2	4	4	2	0	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:39506758T>G	ENST00000007735.3	-	1	306	c.262A>C	c.(262-264)Atc>Ctc	p.I88L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	88	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCTCCCGGATGAGGTTCTCC	0.612																																						uc002hwk.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(262-264)Atc>Ctc		Homo sapiens keratin 33A (KRT33A), mRNA.							91	82	85					17																	39506758		2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506758T>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.262A>C	17.37:g.39506758T>G	ENSP00000007735:p.Ile88Leu						p.I88L	NM_004138	NP_004129	O76009	KT33A_HUMAN			0	299	-		Breast(137;0.000496)	88			Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.262A>C	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864873	0.91511	.	.	ENSG00000006059	ENST00000007735	D	0.88896	-2.44	5.22	5.22	0.72569	Filament (1);	0.000000	0.64402	D	0.000003	D	0.89760	0.6808	L	0.55213	1.73	0.42978	D	0.994455	B	0.33212	0.402	B	0.44044	0.439	D	0.89697	0.3902	10	0.52906	T	0.07	.	14.7289	0.69365	0.0:0.0:0.0:1.0	.	88	O76009	KT33A_HUMAN	L	88	ENSP00000007735:I88L	ENSP00000007735:I88L	I	-	1	0	KRT33A	36760284	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	7.821000	0.86641	2.320000	0.78422	0.528000	0.53228	ATC		0.612	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		G	39506758	T	G	39506758	3	3	270	1	0	0	0	0	1	0	0	0	8469	1464	51	5	980	5	KRT33A	17	39506758	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	29272936	39506758	41688452	47	19272											
OTOP2	92736	broad.mit.edu	37	chr17	72923832	72923832	+	Frame_Shift_Del	DEL	C	C	-																															gtggtggatgaatctgtgcaCcaatcccactcctacagcag																										TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:72923832delC	ENST00000580223.1	+	4	612	c.582delC	c.(580-582)cacfs	p.H194fs	OTOP2_ENST00000331427.4_Frame_Shift_Del_p.H194fs			Q7RTS6	OTOP2_HUMAN	otopetrin 2	194						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AATCTGTGCACCAATCCCACT	0.582																																						uc010wrp.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(580-582)cacfs		Homo sapiens otopetrin 2 (OTOP2), mRNA.							112	81	92					17																	72923832		2203	4300	6503	SO:0001589	frameshift_variant	92736					integral to membrane		g.chr17:72923832delC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.582delC	17.37:g.72923832delC	ENSP00000463837:p.His194fs					OTOP2_uc002jmf.1_3'UTR	p.H194fs	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			4	674	+	all_lung(278;0.172)|Lung NSC(278;0.207)		194						Frame_Shift_Del	DEL	ENST00000580223.1	37	c.582delC	CCDS11708.1																																																																																				0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		-	72923832	C	-	72923832	7	5	270	1	0	1	0	1	0	0	0	0	11306	506	18	0	596	0	OTOP2	17	72923832	Frame_Shift_Del	DEL	C	TCGA-76-6282-01A-11D-1696-08	33417074	72923832	8271378	48	19273											
DSC1	1823	broad.mit.edu	37	chr18	28723628	28723628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtatactcacagaagtttCtgtgaaagatggtggattgt	12	13	12	4	0	2	3	1	1	1	2	2	4	2	4	0	3	1	2	0	3	4	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr18:28723628C>T	ENST00000257198.5	-	8	1327	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	DSC1_ENST00000257197.3_Missense_Mutation_p.E356K|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	356	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACAGAAGTTTCTGTGAAAGAT	0.358																																						uc002kwn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1066-1068)Gaa>Aaa		Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.							113	107	109					18																	28723628		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28723628C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1066G>A	18.37:g.28723628C>T	ENSP00000257198:p.Glu356Lys					DSC1_uc002kwm.3_Missense_Mutation_p.E356K	p.E356K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1328	-			356			Cadherin 3.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1066G>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430605	0.25726	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60548	0.18;0.18	5.21	-0.268	0.12934	Cadherin (3);Cadherin-like (1);	0.447882	0.18565	N	0.137515	T	0.30696	0.0773	N	0.04746	-0.17	0.34548	D	0.710982	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	T	0.18116	-1.0347	10	0.31617	T	0.26	.	8.9218	0.35617	0.0:0.2569:0.5754:0.1677	.	356;356	Q08554;Q9HB00	DSC1_HUMAN;.	K	356	ENSP00000257197:E356K;ENSP00000257198:E356K	ENSP00000257197:E356K	E	-	1	0	DSC1	26977626	0.068000	0.21057	0.891000	0.34965	0.929000	0.56500	-0.007000	0.12810	0.243000	0.21327	0.591000	0.81541	GAA		0.358	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		T	28723628	C	T	28723628	3	4	270	1	0	0	0	0	1	0	0	0	4765	922	32	3	1694	3	DSC1	18	28723628	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		28723628	49353620	49	19274											
TNFSF9	8744	broad.mit.edu	37	chr19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcttacccagggcGccacagtcttgggactcttc	6	9	11	15	1	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	1	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:6535006G>A	ENST00000245817.3	+	3	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	232					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662																																						uc002mfh.2																			0		p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(694-696)Gcc>Acc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							17	19	18					19																	6535006		2203	4292	6495	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6535006G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.694G>A	19.37:g.6535006G>A	ENSP00000245817:p.Ala232Thr						p.A232T	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	732	+			232					Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.694G>A	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.647015	0.47258	.	.	ENSG00000125657	ENST00000245817	D	0.94613	-3.47	4.37	3.33	0.38152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.308394	0.23035	N	0.052690	D	0.88636	0.6490	L	0.28115	0.83	0.20196	N	0.999927	D	0.63880	0.993	P	0.47827	0.558	T	0.80834	-0.1205	10	0.05833	T	0.94	.	8.2125	0.31492	0.1139:0.0:0.8861:0.0	.	232	P41273	TNFL9_HUMAN	T	232	ENSP00000245817:A232T	ENSP00000245817:A232T	A	+	1	0	TNFSF9	6486006	0.065000	0.20965	0.140000	0.22221	0.026000	0.11368	0.133000	0.15912	0.956000	0.37904	0.537000	0.68136	GCC		0.662	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		A	6535006	G	A	6535006	3	1	270	1	0	0	0	0	1	0	0	0	16309	1087	38	1	704	1	TNFSF9	19	6535006	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		6535006	52593977	50	19275											
MUC16	94025	broad.mit.edu	37	chr19	9049297	9049297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttgaagttggaatggcCgaacttgtctgtgcttcagg	9	13	13	6	1	2	1	1	1	1	0	2	3	2	2	1	3	2	3	1	3	4	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:9049297C>T	ENST00000397910.4	-	5	32537	c.32334G>A	c.(32332-32334)tcG>tcA	p.S10778S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10780	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGAATGGCCGAACTTGTCT	0.468																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32332-32334)tcG>tcA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							142	130	134					19																	9049297		1975	4168	6143	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049297C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32334G>A	19.37:g.9049297C>T							p.S10778S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	32538	-			10780			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32334G>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9049297	C	T	9049297	2	4	270	1	0	0	0	0	0	0	0	1	9973	639	23	2		2	MUC16	19	9049297	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	2514291	9049297	50079686	51	19276											
ZNF536	9745	broad.mit.edu	37	chr19	31039659	31039659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaactgcaaagaccaaGcccgggaggcgagtaagatg	14	4	13	10	2	1	2	1	0	0	2	1	4	1	3	2	2	3	2	2	2	4	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:31039659G>T	ENST00000355537.3	+	4	3280	c.3133G>T	c.(3133-3135)Gcc>Tcc	p.A1045S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1045					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAAGACCAAGCCCGGGAGGC	0.537																																						uc002nsu.1																			0		p.Q1044*(1)|p.A1045A(1)|p.A1045V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3133-3135)Gcc>Tcc		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							83	76	78					19																	31039659		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039659G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3133G>T	19.37:g.31039659G>T	ENSP00000347730:p.Ala1045Ser					ZNF536_uc010edd.1_Missense_Mutation_p.A1045S	p.A1045S	NM_014717	NP_055532	O15090	ZN536_HUMAN			3	3271	+	Esophageal squamous(110;0.0834)		1045					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3133G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.702808	0.00719	.	.	ENSG00000198597	ENST00000355537	T	0.07800	3.16	5.74	3.51	0.40186	.	0.511747	0.18855	N	0.129297	T	0.02888	0.0086	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.45381	-0.9265	10	0.07175	T	0.84	-4.8914	5.1523	0.15017	0.1669:0.0:0.5781:0.255	.	1045;1045	A7E228;O15090	.;ZN536_HUMAN	S	1045	ENSP00000347730:A1045S	ENSP00000347730:A1045S	A	+	1	0	ZNF536	35731499	0.998000	0.40836	0.093000	0.20910	0.432000	0.31715	2.978000	0.49305	1.417000	0.47077	0.655000	0.94253	GCC		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	31039659	G	T	31039659	3	4	270	1	0	0	0	0	1	0	0	0	17971	971	34	5	3143	5	ZNF536	19	31039659	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	21990362	31039659	28089324	52	19277											
CD22	933	broad.mit.edu	37	chr19	35828889	35828889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccaatgacgtgggccCgggaaggtcggaagaagtgt	9	7	17	8	3	1	2	0	1	1	1	3	4	1	4	2	5	0	0	2	5	4	0			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:35828889C>T	ENST00000085219.5	+	5	1016	c.950C>T	c.(949-951)cCg>cTg	p.P317L	CD22_ENST00000419549.2_Missense_Mutation_p.P145L|CD22_ENST00000594250.1_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.P317L|CD22_ENST00000270311.6_Missense_Mutation_p.P197L|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.P317L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	317	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACGTGGGCCCGGGAAGGTCG	0.602																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(949-951)cCg>cTg		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						92	63	73					19																	35828889		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35828889C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.950C>T	19.37:g.35828889C>T	ENSP00000085219:p.Pro317Leu					CD22_uc010edu.3_Missense_Mutation_p.P317L|CD22_uc010edv.3_Missense_Mutation_p.P317L|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P145L|CD22_uc010edx.3_Non-coding_Transcript	p.P317L	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1034	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		317			Ig-like C2-type 2.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.950C>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201656	0.22121	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	4.81	-8.8	0.00817	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.745460	0.01190	N	0.007304	T	0.06234	0.0161	N	0.17764	0.52	0.09310	N	1	B;B;B;B	0.24651	0.003;0.008;0.108;0.021	B;B;B;B	0.18871	0.006;0.004;0.023;0.01	T	0.27468	-1.0073	10	0.39692	T	0.17	.	0.6669	0.00852	0.2759:0.187:0.3094:0.2277	.	145;317;317;317	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	L	317;317;317;197;145	ENSP00000085219:P317L;ENSP00000442279:P317L;ENSP00000441237:P317L;ENSP00000270311:P197L;ENSP00000403822:P145L	ENSP00000085219:P317L	P	+	2	0	CD22	40520729	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.268000	0.00533	-0.844000	0.04184	-0.499000	0.04595	CCG		0.602	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		T	35828889	C	T	35828889	3	4	270	1	0	0	0	0	1	0	0	0	2985	652	23	2	964	2	CD22	19	35828889	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	4789230	35828889	23300094	53	19278											
SHKBP1	92799	broad.mit.edu	37	chr19	41096902	41096902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccactcagcctccagcaAcacctccttgtctggccacc	7	8	5	21	0	2	0	1	0	1	0	5	0	5	0	8	1	3	1	8	1	1	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:41096902A>G	ENST00000291842.5	+	18	1962	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S	LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank|SHKBP1_ENST00000600733.1_Missense_Mutation_p.N613S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	638					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCAGCAACACCTCCTTG	0.662																																						uc002oob.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1912-1914)aAc>aGc		Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.							35	38	37					19																	41096902		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096902A>G	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1913A>G	19.37:g.41096902A>G	ENSP00000291842:p.Asn638Ser					SHKBP1_uc002ooc.3_Missense_Mutation_p.N613S|SHKBP1_uc002ooe.3_Missense_Mutation_p.N475S|SHKBP1_uc010xvm.2_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.2_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	p.N638S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1962	+			638					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1913A>G	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	A	6.818	0.520105	0.13005	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.40756	1.02	5.05	-0.154	0.13399	.	2.226600	0.01882	N	0.037939	T	0.30135	0.0755	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.08493	-1.0719	10	0.23302	T	0.38	-8.4997	5.0987	0.14747	0.4957:0.0:0.3582:0.1461	.	516;418;475;638;638	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	S	638;418	ENSP00000291842:N638S	ENSP00000291842:N638S	N	+	2	0	SHKBP1	45788742	0.000000	0.05858	0.881000	0.34555	0.906000	0.53458	-0.513000	0.06305	-0.012000	0.14223	0.459000	0.35465	AAC		0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		G	41096902	A	G	41096902	3	3	270	1	0	0	0	0	1	0	0	0	14284	43	2	4	1983	4	SHKBP1	19	41096902	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	5268013	41096902	18032081	54	19279											
PLCG1	5335	broad.mit.edu	37	chr20	39794468	39794468	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacacgctctctttctggTaacacttcccatgcagatgc	9	12	6	14	1	2	1	0	0	2	1	4	1	3	1	1	1	4	3	1	1	2	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:39794468T>C	ENST00000373271.1	+	16	2204		c.e16+2		PLCG1_ENST00000244007.3_Splice_Site|PLCG1_ENST00000373272.2_Splice_Site	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1						activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTTTCTGGTAACACTTCCC	0.522																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.e16+2		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							55	49	51					20																	39794468		2203	4300	6503	SO:0001630	splice_region_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39794468T>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1799+2T>C	20.37:g.39794468T>C						PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.3_5'Flank	p.W600_splice	NM_182811	NP_877963	P19174	PLCG1_HUMAN			16	1920	+		Myeloproliferative disorder(115;0.00878)	600			SH2 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Splice_Site	SNP	ENST00000373271.1	37	c.1799_splice	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362418	0.61403	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	.	.	.	4.95	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6767	0.51434	0.0:0.0:0.1486:0.8514	.	.	.	.	.	-1	.	.	.	+	.	.	PLCG1	39227882	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.815000	0.69215	0.911000	0.36747	0.459000	0.35465	.		0.522	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	Intron	C	39794468	T	C	39794468	5	2	270	1	0	0	0	0	0	0	1	0	12035	1652	57	4	1863	4	PLCG1	20	39794468	Splice_Site	SNP	T	TCGA-76-6282-01A-11D-1696-08		39794468	23231052	55	19280											
TPTE	7179	broad.mit.edu	37	chr21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttacagtgaatcgctaCgatgttttcaagatcttgag	10	15	8	8	2	2	3	1	2	1	1	4	4	3	3	1	0	2	2	1	0	4	6	rs149228869		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:10933879C>T	ENST00000361285.4	-	17	1329	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_ENST00000298232.7_Missense_Mutation_p.V316I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	334	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1000-1002)Gta>Ata		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	4,4402		0,4,2199	244	243	243		946,886,1000	0.1	0	21	dbSNP_134	243	0,8600		0,0,4300	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	316/534,296/514,334/552	10933879	4,13002	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933879C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1000G>A	21.37:g.10933879C>T	ENSP00000355208:p.Val334Ile					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.V316I|TPTE_uc002yir.1_Missense_Mutation_p.V296I|TPTE_uc010gkv.1_Missense_Mutation_p.V196I	p.V334I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1368	-			334			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1000G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.795271	0.00617	9.08E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88975	-2.45;-2.45;-2.45	1.97	0.0501	0.14292	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.112978	0.56097	N	0.000029	T	0.69260	0.3091	N	0.05124	-0.11	0.26216	N	0.979237	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.20955	0.019;0.009;0.032	T	0.56450	-0.7977	10	0.10902	T	0.67	-10.4341	4.9844	0.14182	0.0:0.5035:0.0:0.4965	.	296;316;334	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	316;334;296	ENSP00000298232:V316I;ENSP00000355208:V334I;ENSP00000344441:V296I	ENSP00000298232:V316I	V	-	1	0	TPTE	9955750	0.093000	0.21703	0.006000	0.13384	0.155000	0.21991	0.193000	0.17116	0.000000	0.14550	-1.111000	0.02071	GTA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10933879	C	T	10933879	3	4	270	1	0	0	0	0	1	0	0	0	16427	536	19	1	687	1	TPTE	21	10933879	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		10933879	37196016	56	19281											
RRP1B	23076	broad.mit.edu	37	chr21	45107849	45107849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttggagttgtgcccGtcaatggcagtggcctgtcc	7	10	14	10	1	1	0	1	0	0	0	2	2	2	2	3	4	2	2	3	4	2	2	rs567364998		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:45107849G>A	ENST00000340648.4	+	13	1711	c.1594G>A	c.(1594-1596)Gtc>Atc	p.V532I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	532					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGTTGTGCCCGTCAATGGCAG	0.647													G|||	1	0.000199681	0	0	5008	,	,		16497	0		0	False		,,,				2504	0.001					uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1594-1596)Gtc>Atc		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							39	38	38					21																	45107849		2197	4295	6492	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107849G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1594G>A	21.37:g.45107849G>A	ENSP00000339145:p.Val532Ile					RRP1B_uc002zdl.3_Missense_Mutation_p.V65I	p.V532I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	12	1708	+			532					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1594G>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750116	0.30955	.	.	ENSG00000160208	ENST00000340648	T	0.35605	1.3	4.96	2.06	0.26882	.	0.712733	0.12257	N	0.485056	T	0.24890	0.0604	L	0.32530	0.975	0.09310	N	1	B	0.25850	0.136	B	0.16722	0.016	T	0.21245	-1.0251	10	0.87932	D	0	-2.2808	6.3372	0.21302	0.1674:0.1521:0.6805:0.0	.	532	Q14684	RRP1B_HUMAN	I	532	ENSP00000339145:V532I	ENSP00000339145:V532I	V	+	1	0	RRP1B	43932277	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.157000	0.16402	0.576000	0.29452	0.561000	0.74099	GTC		0.647	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		A	45107849	G	A	45107849	3	1	270	1	0	0	0	0	1	0	0	0	13688	1145	40	1	1644	1	RRP1B	21	45107849	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	34173970	45107849	3022046	57	19282											
RGL4	266747	broad.mit.edu	37	chr22	24034585	24034585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttactatcagcccccGcaacggtcatctttccggat	8	12	7	14	3	4	0	3	0	1	0	5	1	5	1	3	2	3	2	3	2	3	4	rs141395325	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:24034585G>A	ENST00000290691.5	+	2	1413	c.243G>A	c.(241-243)ccG>ccA	p.P81P	KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	81					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCAGCCCCCGCAACGGTCAT	0.552																																						uc002zxo.3																			0		p.P81Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(241-243)ccG>ccA		Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.		G		0,4406		0,0,2203	176	173	174		243	-3.8	0	22	dbSNP_134	174	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	RGL4	NM_153615.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		81/474	24034585	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034585G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.243G>A	22.37:g.24034585G>A						GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR	p.P81P			Q8IZJ4	RGDSR_HUMAN			1	1500	+			81					Q495L8	Silent	SNP	ENST00000290691.5	37	c.243G>A	CCDS13811.1																																																																																				0.552	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		A	24034585	G	A	24034585	2	1	270	1	0	0	0	0	0	0	0	1	13279	1074	38	1		1	RGL4	22	24034585	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		24034585	27269981	58	19283											
MYO18B	84700	broad.mit.edu	37	chr22	26423542	26423542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaatcccacgacttgcGggtgacggtggcgagcgaac	9	5	15	12	5	0	1	0	1	0	0	1	5	1	2	2	4	3	0	2	4	2	1	rs368810371		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:26423542G>A	ENST00000407587.2	+	43	7774	c.7605G>A	c.(7603-7605)gcG>gcA	p.A2535A	MYO18B_ENST00000536101.1_Silent_p.A2534A|MYO18B_ENST00000335473.7_Silent_p.A2534A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2534						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACGACTTGCGGGTGACGGTG	0.572																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7600-7602)gcG>gcA		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							43	46	45					22																	26423542		2010	4158	6168	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423542G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7605G>A	22.37:g.26423542G>A						MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_Non-coding_Transcript	p.A2534A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			42	7852	+			2534					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7602G>A		.	.	.	.	.	.	.	.	.	.	G	0.528	-0.859077	0.02610	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.17	-6.08	0.02151	.	.	.	.	.	T	0.16342	0.0393	.	.	.	0.22330	N	0.999196	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	1.8004	0.03070	0.3731:0.0979:0.3324:0.1966	.	.	.	.	Q	484	.	.	R	+	2	0	MYO18B	24753542	0.093000	0.21703	0.001000	0.08648	0.001000	0.01503	-0.398000	0.07259	-0.892000	0.03935	-1.618000	0.00794	CGG		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26423542	G	A	26423542	2	1	270	1	0	0	0	0	0	0	0	1	10066	1103	39	2		2	MYO18B	22	26423542	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08	2388957	26423542	24881024	59	19284											
VPS13D	55187	broad.mit.edu	37	chr1	12414081	12414081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagattatatgccctcaaAcatattttctgacagtgcaa	13	13	5	10	0	2	2	1	1	1	1	3	2	3	2	2	0	3	1	2	0	5	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:12414081A>G	ENST00000358136.3	+	47	9612	c.9482A>G	c.(9481-9483)aAc>aGc	p.N3161S	VPS13D_ENST00000356315.4_Missense_Mutation_p.N3136S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCTCAAACATATTTTCT	0.363																																						uc001atv.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9481-9483)aAc>aGc		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							90	84	86					1																	12414081		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12414081A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9482A>G	1.37:g.12414081A>G	ENSP00000350854:p.Asn3161Ser					VPS13D_uc001atw.3_Missense_Mutation_p.N3136S|VPS13D_uc001atx.3_Missense_Mutation_p.N2348S	p.N3161S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	46	9623	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3160						Missense_Mutation	SNP	ENST00000358136.3	37	c.9482A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.067|8.067	0.769488|0.769488	0.15983|0.15983	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.52295|.	0.67;0.68|.	5.86|5.86	2.34|2.34	0.29019|0.29019	.|.	0.221820|.	0.52532|.	N|.	0.000068|.	T|T	0.35799|0.35799	0.0944|0.0944	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.003;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.04467|0.04467	-1.0949|-1.0949	10|5	0.08179|.	T|.	0.78|.	.|.	8.8293|8.8293	0.35074|0.35074	0.6505:0.0:0.3495:0.0|0.6505:0.0:0.3495:0.0	.|.	3136;3160|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	S|A	3136;3161|1983	ENSP00000348666:N3136S;ENSP00000350854:N3161S|.	ENSP00000348666:N3136S|.	N|T	+|+	2|1	0|0	VPS13D|VPS13D	12336668|12336668	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	2.968000|2.968000	0.49224|0.49224	0.217000|0.217000	0.20800|0.20800	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.363	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12414081	A	G	12414081	3	3	271	1	0	0	0	0	1	0	0	0	17189	43	2	4	9664	4	VPS13D	1	12414081	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		12414081	236836540	1	19285											
HSPB7	27129	broad.mit.edu	37	chr1	16342135	16342135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatgcgggtgacgccgTgcccggatagtgaggctgcc	5	9	16	11	4	1	2	0	2	1	0	1	3	1	3	3	3	3	2	3	3	2	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:16342135T>C	ENST00000311890.9	-	3	1279	c.453A>G	c.(451-453)gcA>gcG	p.A151A	HSPB7_ENST00000375718.4_Silent_p.A226A|HSPB7_ENST00000406363.2_Silent_p.A155A|HSPB7_ENST00000411503.1_Silent_p.A146A|HSPB7_ENST00000487046.1_Silent_p.A156A	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	151					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACGCCGTGCCCGGATAG	0.642																																						uc001axr.2																			0				breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10						c.(730-732)gcA>gcG		Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.							108	87	94					1																	16342135		2203	4300	6503	SO:0001819	synonymous_variant	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16342135T>C	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.453A>G	1.37:g.16342135T>C						HSPB7_uc001axo.2_Silent_p.A151A|HSPB7_uc001axp.2_Silent_p.A234A|HSPB7_uc001axq.2_Silent_p.A243A|HSPB7_uc001axs.2_Silent_p.A226A	p.A244A	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	2	1295	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	151					B3KQ37|C9K0Y0|Q9NU17	Silent	SNP	ENST00000311890.9	37	c.732A>G	CCDS30611.1																																																																																				0.642	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		C	16342135	T	C	16342135	2	2	271	1	0	0	0	0	0	0	0	1	7422	1683	59	4		4	HSPB7	1	16342135	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	3928054	16342135	232908486	2	19286											
EPHA8	2046	broad.mit.edu	37	chr1	22927421	22927421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggaggggtaccgcCtgcccgcacccatgggctgc	5	6	16	14	2	0	0	0	0	0	0	0	2	0	2	4	5	3	3	4	5	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:22927421C>T	ENST00000166244.3	+	15	2641	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGTACCGCCTGCCCGCACC	0.697																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2569-2571)Ctg>Ttg		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							46	49	48					1																	22927421		2203	4297	6500	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927421C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2569C>T	1.37:g.22927421C>T							p.L857L	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2694	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	857			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2569C>T	CCDS225.1																																																																																				0.697	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22927421	C	T	22927421	2	4	271	1	0	0	0	0	0	0	0	1	5173	680	24	3		3	EPHA8	1	22927421	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	6585286	22927421	226323200	3	19287											
PHACTR4	65979	broad.mit.edu	37	chr1	28818258	28818258	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcaagattatgaccggCgagccgacaaaccttggacc	12	7	10	12	3	1	2	1	1	0	1	1	5	1	3	4	2	3	1	4	2	3	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:28818258C>T	ENST00000373839.3	+	12	2236	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.R669*	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	659					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGACCGGCGAGCCGACAA	0.453																																						uc001bpy.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(2005-2007)Cga>Tga		Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.							73	80	78					1																	28818258		1914	4133	6047	SO:0001587	stop_gained	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28818258C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1975C>T	1.37:g.28818258C>T	ENSP00000362945:p.Arg659*					PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Nonsense_Mutation_p.R659*|PHACTR4_uc001bpx.3_Nonsense_Mutation_p.R643*	p.R669*	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	10	2240	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	659					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Nonsense_Mutation	SNP	ENST00000373839.3	37	c.2005C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	39	7.609819	0.98387	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	.	.	.	5.77	1.47	0.22746	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.445	9.5907	0.39543	0.5237:0.4078:0.0:0.0686	.	.	.	.	X	659;669	.	ENSP00000362942:R669X	R	+	1	2	PHACTR4	28690845	0.259000	0.24043	0.985000	0.45067	0.996000	0.88848	0.270000	0.18607	0.333000	0.23563	0.558000	0.71614	CGA		0.453	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		T	28818258	C	T	28818258	4	4	271	1	0	0	0	0	0	1	0	0	11812	760	27	1	2067	1	PHACTR4	1	28818258	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5890837	28818258	220432363	4	19288											
IPP	3652	broad.mit.edu	37	chr1	46165793	46165793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctccagaaacatacagaaGaccattgactgccacaacac	17	5	5	14	0	0	4	0	1	0	3	1	4	1	4	4	0	4	0	4	0	4	2	rs147854966		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:46165793G>C	ENST00000396478.3	-	9	1702	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	534						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACATACAGAAGACCATTGACT	0.423																																						uc001cou.3																			0		p.G533C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1600-1602)Ctt>Gtt		Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.							140	141	141					1																	46165793		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46165793G>C	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1600C>G	1.37:g.46165793G>C	ENSP00000379739:p.Leu534Val					IPP_uc001cos.4_Missense_Mutation_p.L534V	p.L534V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			8	1867	-	Acute lymphoblastic leukemia(166;0.155)		534					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.1600C>G	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534090	0.64972	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.77620	-0.22;-1.11	5.87	5.87	0.94306	Galactose oxidase, beta-propeller (1);	0.117788	0.64402	D	0.000017	T	0.74473	0.3721	L	0.58583	1.82	0.51012	D	0.9999	B;P	0.37233	0.062;0.588	B;B	0.35813	0.11;0.211	T	0.74131	-0.3764	10	0.39692	T	0.17	.	15.362	0.74483	0.0683:0.0:0.9317:0.0	.	534;534	Q9Y573;A2A6V3	IPP_HUMAN;.	V	534	ENSP00000353024:L534V;ENSP00000379739:L534V	ENSP00000353024:L534V	L	-	1	0	IPP	45938380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.260000	0.58835	2.785000	0.95823	0.591000	0.81541	CTT		0.423	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		C	46165793	G	C	46165793	3	2	271	1	0	0	0	0	1	0	0	0	7800	942	33	5	260	5	IPP	1	46165793	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	17347535	46165793	203084828	5	19289											
GADD45A	1647	broad.mit.edu	37	chr1	68152267	68152267	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcactgcgtgctggtGacggtaagggactgggggac	7	7	18	9	2	0	1	0	1	0	0	0	4	0	3	1	5	3	3	1	5	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:68152267G>T	ENST00000370986.4	+	3	815	c.381G>T	c.(379-381)gtG>gtT	p.V127V	GADD45A_ENST00000370985.3_Silent_p.V93V|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	127					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|signal transduction in response to DNA damage (GO:0042770)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter binding (GO:0001047)			lung(2)|ovary(2)	4						GCGTGCTGGTGACGGTAAGGG	0.706																																						uc001ddz.2																			0				lung(2)|ovary(2)	4						c.(379-381)gtG>gtT		Homo sapiens growth arrest and DNA-damage-inducible, alpha (GADD45A), transcript variant 1, mRNA.							10	12	12					1																	68152267		2167	4260	6427	SO:0001819	synonymous_variant	1647				apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	g.chr1:68152267G>T	M60974	CCDS640.1, CCDS55605.1, CCDS72806.1	1p31.2	2010-08-27			ENSG00000116717	ENSG00000116717			4095	protein-coding gene	gene with protein product		126335		DDIT1		1990262, 8226988	Standard	NM_001924		Approved	GADD45	uc001ddz.2	P24522	OTTHUMG00000009374	ENST00000370986.4:c.381G>T	1.37:g.68152267G>T						GADD45A_uc009wbb.2_Silent_p.V93V|GADD45A_uc009wbc.2_Intron|GADD45A_uc009wbd.2_Intron	p.V127V	NM_001924	NP_001915	P24522	GA45A_HUMAN			2	699	+			127					Q5TCA7|Q5TCA8	Silent	SNP	ENST00000370986.4	37	c.381G>T	CCDS640.1																																																																																				0.706	GADD45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025988.2	NM_001924		T	68152267	G	T	68152267	2	4	271	1	0	0	0	0	0	0	0	1	6181	1277	45	5		5	GADD45A	1	68152267	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	21986474	68152267	181098354	6	19290											
ABCA4	24	broad.mit.edu	37	chr1	94522271	94522271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccagactggccttGgagaagaaggtgctgagcag	9	7	16	9	0	0	4	0	1	0	3	0	5	0	4	2	3	4	4	2	3	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:94522271G>A	ENST00000370225.3	-	15	2354	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	756					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACTGGCCTTGGAGAAGAAGG	0.542																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2266-2268)tcC>tcT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							94	85	88					1																	94522271		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94522271G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2268C>T	1.37:g.94522271G>A						ABCA4_uc010otn.1_Intron	p.S756S	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2372	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	756					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2268C>T	CCDS747.1																																																																																				0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94522271	G	A	94522271	2	1	271	1	0	0	0	0	0	0	0	1	34	1335	47	3		3	ABCA4	1	94522271	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	26370004	94522271	154728350	7	19291											
CGN	57530	broad.mit.edu	37	chr1	151491406	151491406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctactccgttcccactcCcaggcctcactggcaggccc	7	7	8	19	1	1	0	1	0	0	0	4	0	4	0	5	3	2	3	5	3	2	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:151491406C>T	ENST00000271636.7	+	2	544	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	131	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCACTCCCAGGCCTCAC	0.592																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(409-411)tcC>tcT		Homo sapiens cingulin (CGN), mRNA.							45	45	45					1																	151491406		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491406C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.411C>T	1.37:g.151491406C>T							p.S137S	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	555	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		131			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.411C>T	CCDS999.1																																																																																				0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151491406	C	T	151491406	2	4	271	1	0	0	0	0	0	0	0	1	3303	610	22	3		3	CGN	1	151491406	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	56969135	151491406	97759215	8	19292											
S100A14	57402	broad.mit.edu	37	chr1	153587428	153587428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatcagctcccagaaaCtcctgaactccagtttagag	12	9	6	14	0	1	3	1	1	0	2	5	3	5	3	4	0	3	2	4	0	4	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153587428C>G	ENST00000368702.1	-	5	520	c.248G>C	c.(247-249)aGt>aCt	p.S83T	S100A16_ENST00000474991.1_5'Flank|S100A14_ENST00000344616.2_Missense_Mutation_p.S83T|S100A16_ENST00000368706.4_5'Flank|S100A14_ENST00000368701.1_Missense_Mutation_p.S83T|S100A14_ENST00000476873.1_Missense_Mutation_p.S83T|S100A14_ENST00000368700.3_5'UTR			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	83					apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCAGAAACTCCTGAACTC	0.557																																						uc001fce.3																			0				kidney(2)|large_intestine(1)|lung(1)	4						c.(247-249)aGt>aCt		Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.							73	74	74					1																	153587428		2203	4300	6503	SO:0001583	missense	57402				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	g.chr1:153587428C>G	AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"S100 calcium binding proteins"	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.248G>C	1.37:g.153587428C>G	ENSP00000357691:p.Ser83Thr					S100A16_uc001fcd.1_5'Flank	p.S83T	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	364	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		83					Q5RHT0	Missense_Mutation	SNP	ENST00000368702.1	37	c.248G>C	CCDS1046.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253504	0.39797	.	.	ENSG00000189334	ENST00000476873;ENST00000368701;ENST00000368702;ENST00000344616	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.86	2.92	0.33932	EF-hand-like domain (1);	0.296997	0.36134	N	0.002766	T	0.02380	0.0073	L	0.44542	1.39	0.24378	N	0.99481	B	0.02656	0.0	B	0.04013	0.001	T	0.38993	-0.9635	10	0.87932	D	0	-12.0754	11.391	0.49815	0.0:0.6486:0.3514:0.0	.	83	Q9HCY8	S10AE_HUMAN	T	83	ENSP00000420296:S83T;ENSP00000357690:S83T;ENSP00000357691:S83T;ENSP00000340463:S83T	ENSP00000340463:S83T	S	-	2	0	S100A14	151854052	0.054000	0.20591	0.582000	0.28627	0.862000	0.49288	0.459000	0.21908	0.595000	0.29777	0.609000	0.83330	AGT		0.557	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084788.2	NM_020672		G	153587428	C	G	153587428	3	3	271	1	0	0	0	0	1	0	0	0	13776	565	20	5	70	5	S100A14	1	153587428	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2096022	153587428	95663193	9	19293											
NUP210L	91181	broad.mit.edu	37	chr1	153973356	153973356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccaacttatctttcatagCcctcactaccactgcctcac	10	11	2	18	0	4	0	3	0	1	0	4	0	4	0	4	0	4	0	4	0	4	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153973356C>A	ENST00000368559.3	-	37	5433	c.5362G>T	c.(5362-5364)Gct>Tct	p.A1788S	NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron|U3_ENST00000516860.1_RNA	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1788					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTTCATAGCCCTCACTACC	0.408																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(5362-5364)Gct>Tct		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							176	169	171					1																	153973356		1977	4157	6134	SO:0001583	missense	91181					integral to membrane		g.chr1:153973356C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5362G>T	1.37:g.153973356C>A	ENSP00000357547:p.Ala1788Ser					NUP210L_uc009woq.3_Missense_Mutation_p.A697S|NUP210L_uc010peh.2_Intron	p.A1788S	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		36	5434	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1788					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.5362G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914813	0.33815	.	.	ENSG00000143552	ENST00000368559	T	0.05199	3.48	5.47	5.47	0.80525	.	0.102624	0.42964	D	0.000622	T	0.03959	0.0111	L	0.47716	1.5	0.80722	D	1	P	0.34562	0.457	B	0.34038	0.174	T	0.45629	-0.9248	10	0.32370	T	0.25	-36.3897	17.093	0.86627	0.0:1.0:0.0:0.0	.	1788	Q5VU65	P210L_HUMAN	S	1788	ENSP00000357547:A1788S	ENSP00000357547:A1788S	A	-	1	0	NUP210L	152239980	0.997000	0.39634	0.985000	0.45067	0.610000	0.37248	2.815000	0.48018	2.567000	0.86603	0.484000	0.47621	GCT		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	153973356	C	A	153973356	3	1	271	1	0	0	0	0	1	0	0	0	10761	739	26	5	320	5	NUP210L	1	153973356	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	385928	153973356	95277265	10	19294											
PYHIN1	149628	broad.mit.edu	37	chr1	158914677	158914677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttcagatacagaaaaatAcaaaccagagaagccatgac	20	6	6	9	0	1	4	1	1	0	3	1	5	1	4	2	0	4	0	2	0	6	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:158914677A>G	ENST00000368140.1	+	7	1449	c.1204A>G	c.(1204-1206)Aca>Gca	p.T402A	PYHIN1_ENST00000392254.2_Missense_Mutation_p.T402A|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T393A|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T393A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	402					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGAAAAATACAAACCAGAG	0.373																																						uc001ftb.3																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1204-1206)Aca>Gca		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							56	56	56					1																	158914677		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158914677A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1204A>G	1.37:g.158914677A>G	ENSP00000357122:p.Thr402Ala					PYHIN1_uc001ftc.3_Missense_Mutation_p.T393A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T402A|PYHIN1_uc001fte.3_Missense_Mutation_p.T393A	p.T402A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			6	1454	+	all_hematologic(112;0.0378)		402					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1204A>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.577774	0.00879	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.05717	3.45;3.4;3.43;3.42	2.32	-4.64	0.03349	Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.00906	0.0030	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.28258	0.205;0.205;0.205;0.13	B;B;B;B	0.26770	0.073;0.046;0.073;0.021	T	0.44997	-0.9291	9	0.40728	T	0.16	.	0.8064	0.01084	0.1816:0.3062:0.1358:0.3764	.	393;402;393;402	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	A	402;393;402;393	ENSP00000357122:T402A;ENSP00000357120:T393A;ENSP00000376083:T402A;ENSP00000376082:T393A	ENSP00000357120:T393A	T	+	1	0	PYHIN1	157181301	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.599000	0.05700	-1.775000	0.01287	-0.334000	0.08254	ACA		0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		G	158914677	A	G	158914677	3	3	271	1	0	0	0	0	1	0	0	0	12865	391	14	4	1226	4	PYHIN1	1	158914677	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	4941321	158914677	90335944	11	19295											
C1orf125	126859	broad.mit.edu	37	chr1	179364322	179364322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaagctcttttaaatgCggaaaagaatgccaagtgag	15	8	11	7	1	1	2	0	1	1	1	1	3	1	3	1	2	3	2	1	2	7	2	rs367975765		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:179364322C>T	ENST00000367618.3	+	11	1481	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.A365V	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	365										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTTTTAAATGCGGAAAAGAAT	0.353																																						uc001gmo.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1093-1095)gCg>gTg		Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	167	185	178		1094	4.8	1	1		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	AXDND1	NM_144696.4	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	365/1013	179364322	2,13004	2203	4300	6503	SO:0001583	missense	126859							g.chr1:179364322C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1094C>T	1.37:g.179364322C>T	ENSP00000356590:p.Ala365Val					AXDND1_uc001gmn.2_Missense_Mutation_p.A153V|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.A323V	p.A365V	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			10	1481	+			365					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1094C>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994154	0.74703	2.27E-4	1.16E-4	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.54479	1.83;0.57;1.85	5.65	4.75	0.60458	.	0.513848	0.22242	N	0.062675	T	0.64136	0.2571	L	0.46157	1.445	0.28721	N	0.903017	D;D;P	0.89917	1.0;0.999;0.774	D;D;B	0.75020	0.985;0.952;0.066	T	0.60084	-0.7332	10	0.44086	T	0.13	-11.1647	12.6786	0.56908	0.0:0.9198:0.0:0.0802	.	323;365;365	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	V	365;323;365;299	ENSP00000356590:A365V;ENSP00000416712:A365V;ENSP00000391716:A299V	ENSP00000353471:A323V	A	+	2	0	AXDND1	177630945	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	5.435000	0.66532	1.395000	0.46643	-0.122000	0.15005	GCG		0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		T	179364322	C	T	179364322	3	4	271	1	0	0	0	0	1	0	0	0	1993	768	27	1	1132	1	C1orf125	1	179364322	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	20449645	179364322	69886299	12	19296											
HMCN1	83872	broad.mit.edu	37	chr1	186134268	186134268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtaatcagtgcccctcCgggtttaccttagactcagt	8	11	9	13	2	2	1	2	0	0	1	3	1	3	1	4	1	2	3	4	1	3	4	rs371625429		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:186134268C>T	ENST00000271588.4	+	98	15511	c.15282C>T	c.(15280-15282)tcC>tcT	p.S5094S	HMCN1_ENST00000367492.2_Silent_p.S5094S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5094					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGCCCCTCCGGGTTTACCT	0.408																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15280-15282)tcC>tcT		Homo sapiens hemicentin 1 (HMCN1), mRNA.							167	164	165					1																	186134268		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186134268C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15282C>T	1.37:g.186134268C>T						MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.S663S	p.S5094S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			97	15511	+			5094					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.15282C>T	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186134268	C	T	186134268	2	4	271	1	0	0	0	0	0	0	0	1	7220	639	23	2		2	HMCN1	1	186134268	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	6769946	186134268	63116353	13	19297											
FCAMR	83953	broad.mit.edu	37	chr1	207140441	207140441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggcattttccatcccGccctcctgctggtgacctgc	5	10	11	15	1	0	2	0	1	0	1	3	2	3	2	5	3	2	2	5	3	0	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:207140441G>A	ENST00000324852.4	-	3	599	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FCAMR_ENST00000400962.3_Missense_Mutation_p.A42V|FCAMR_ENST00000450945.2_Missense_Mutation_p.A42V	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	341					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TTTCCATCCCGCCCTCCTGCT	0.527																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.4																			0		p.A42A(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(124-126)gCg>gTg		Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.							66	59	61					1																	207140441		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207140441G>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.125C>T	1.37:g.207140441G>A	ENSP00000316491:p.Ala42Val					FCAMR_uc001hfb.3_Missense_Mutation_p.A42V|FCAMR_uc009xca.2_Missense_Mutation_p.A42V|FCAMR_uc021pig.1_5'Flank	p.A42V	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN			2	625	-			341					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.125C>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553845	0.65425	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945	T;T;T	0.10960	2.82;3.18;2.82	5.35	4.44	0.53790	.	.	.	.	.	T	0.16811	0.0404	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08534	-1.0717	6	0.66056	D	0.02	.	9.9263	0.41494	0.094:0.0:0.906:0.0	.	.	.	.	V	42	ENSP00000383746:A42V;ENSP00000316491:A42V;ENSP00000392707:A42V	ENSP00000316491:A42V	A	-	2	0	FCAMR	205207064	0.533000	0.26354	0.013000	0.15412	0.012000	0.07955	2.878000	0.48515	1.262000	0.44165	0.655000	0.94253	GCG		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		A	207140441	G	A	207140441	3	1	271	1	0	0	0	0	1	0	0	0	5772	1087	38	1	1632	1	FCAMR	1	207140441	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	21006173	207140441	42110180	14	19298											
USH2A	7399	broad.mit.edu	37	chr1	215848243	215848243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagcatcctccactcGtgcaggcttggagtgcatag	7	10	14	10	1	0	0	0	0	0	0	3	2	2	2	2	4	3	4	2	4	1	2	rs527236137		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:215848243G>A	ENST00000307340.3	-	63	13396	c.13010C>T	c.(13009-13011)aCg>aTg	p.T4337M	USH2A_ENST00000366943.2_Missense_Mutation_p.T4337M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4337	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in USH2A). {ECO:0000269|PubMed:17085681}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTCCACTCGTGCAGGCTTG	0.498										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM065508	USH2A	M		c.(13009-13011)aCg>aTg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							78	77	77					1																	215848243		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848243G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13010C>T	1.37:g.215848243G>A	ENSP00000305941:p.Thr4337Met	HNSCC(13;0.011)					p.T4337M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	13397	-			4337		T -> M (in USH2A).	Fibronectin type-III 28.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13010C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569930	0.86542	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58940	0.41;0.3	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.163742	0.28176	U	0.016305	T	0.82208	0.4987	M	0.92077	3.27	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	D	0.86978	0.2102	10	0.87932	D	0	.	18.5712	0.91136	0.0:0.0:1.0:0.0	.	4337	O75445	USH2A_HUMAN	M	4337	ENSP00000305941:T4337M;ENSP00000355910:T4337M	ENSP00000305941:T4337M	T	-	2	0	USH2A	213914866	1.000000	0.71417	0.907000	0.35723	0.976000	0.68499	7.655000	0.83696	2.384000	0.81235	0.467000	0.42956	ACG		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	215848243	G	A	215848243	3	1	271	1	0	0	0	0	1	0	0	0	17033	1145	40	1	2638	1	USH2A	1	215848243	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8707802	215848243	33402378	15	19299											
USH2A	7399	broad.mit.edu	37	chr1	216538373	216538373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagagttcttgcattgaaagGtgtatgatccttctccacgc	9	14	9	9	1	2	3	0	2	2	1	4	3	3	3	2	1	1	3	2	1	3	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:216538373G>A	ENST00000307340.3	-	4	1092	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USH2A_ENST00000366942.3_Missense_Mutation_p.P236S|USH2A_ENST00000366943.2_Missense_Mutation_p.P236S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	236					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATTGAAAGGTGTATGATCC	0.353										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(706-708)Cct>Tct		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							136	127	130					1																	216538373		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216538373G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.706C>T	1.37:g.216538373G>A	ENSP00000305941:p.Pro236Ser	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.P236S	p.P236S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	3	1093	-			236					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.706C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733751	0.30684	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61859	0.07;0.07;0.07	5.5	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.366689	0.19527	U	0.112135	T	0.55401	0.1918	L	0.42245	1.32	0.31556	N	0.658142	B;B	0.32753	0.383;0.101	B;B	0.37387	0.248;0.096	T	0.63629	-0.6594	10	0.52906	T	0.07	.	15.9907	0.80202	0.0:0.736:0.2639:0.0	.	236;236	O75445-2;O75445	.;USH2A_HUMAN	S	236	ENSP00000305941:P236S;ENSP00000355910:P236S;ENSP00000355909:P236S	ENSP00000305941:P236S	P	-	1	0	USH2A	214604996	0.928000	0.31464	0.303000	0.25071	0.709000	0.40893	1.765000	0.38481	1.316000	0.45131	-0.340000	0.08031	CCT		0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216538373	G	A	216538373	3	1	271	1	0	0	0	0	1	0	0	0	17033	1261	44	3	15192	3	USH2A	1	216538373	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	690130	216538373	32712248	16	19300											
OR2T33	391195	broad.mit.edu	37	chr1	248436840	248436840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctgcacaccacagccagCgcgggagatggccttacttc	9	7	11	14	2	1	1	0	0	1	1	2	3	1	1	3	2	4	1	3	2	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:248436840C>T	ENST00000318021.2	-	1	298	c.277G>A	c.(277-279)Gct>Act	p.A93T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACAGCCAGCGCGGGAGATG	0.577																																						uc010pzi.2																			0		p.R92S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(277-279)Gct>Act		Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.																																				SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436840C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.277G>A	1.37:g.248436840C>T	ENSP00000324687:p.Ala93Thr						p.A93T	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	277	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		93					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.277G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.985	-0.695697	0.03279	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	0.338	0.15974	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00178	0.0005	L	0.35854	1.095	0.09310	N	1	P	0.39250	0.665	B	0.28139	0.086	T	0.43556	-0.9384	10	0.31617	T	0.26	.	2.9908	0.05982	0.0:0.3022:0.2351:0.4627	.	93	Q8NG76	O2T33_HUMAN	T	93	ENSP00000324687:A93T	ENSP00000324687:A93T	A	-	1	0	OR2T33	246503463	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-2.218000	0.01219	0.399000	0.25367	0.494000	0.49563	GCT		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436840	C	T	248436840	3	4	271	1	0	0	0	0	1	0	0	0	11024	768	27	1	688	1	OR2T33	1	248436840	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	31898467	248436840	813781	17	19301											
IAH1	285148	broad.mit.edu	37	chr2	9628296	9628296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctcatcttatttatcAgatggactacatttgtctcc	9	17	5	10	0	4	1	2	0	3	1	6	3	4	2	1	1	1	0	1	1	3	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:9628296A>G	ENST00000497473.1	+	6	622	c.585A>G	c.(583-585)tcA>tcG	p.S195S	IAH1_ENST00000482918.1_Silent_p.S82S|IAH1_ENST00000470914.1_Silent_p.S82S|IAH1_ENST00000545602.1_Silent_p.S82S|IAH1_ENST00000489468.1_3'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	195					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTATTTATCAGATGGACTAC	0.448																																						uc002qzr.3																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(583-585)tcA>tcG		Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.							112	104	106					2																	9628296		1856	4099	5955	SO:0001819	synonymous_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9628296A>G	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.585A>G	2.37:g.9628296A>G						IAH1_uc002qzs.3_Silent_p.S82S|IAH1_uc002qzt.3_Silent_p.S82S|IAH1_uc010yiz.2_Non-coding_Transcript	p.S195S	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN			5	611	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		195					B4DMV3	Silent	SNP	ENST00000497473.1	37	c.585A>G	CCDS42651.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271353	0.23221	.	.	ENSG00000134330	ENST00000481367	.	.	.	6.17	-6.04	0.02178	.	.	.	.	.	T	0.35624	0.0938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46884	-0.9159	4	.	.	.	-21.3727	1.2851	0.02049	0.4451:0.1536:0.2569:0.1444	.	.	.	.	R	175	.	.	Q	+	2	0	IAH1	9545747	0.000000	0.05858	0.884000	0.34674	0.739000	0.42172	-2.327000	0.01113	-0.320000	0.08640	0.533000	0.62120	CAG		0.448	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		G	9628296	A	G	9628296	2	3	271	1	0	0	0	0	0	0	0	1	7471	175	7	4		4	IAH1	2	9628296	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08		9628296	233571077	18	19302											
TTN	7273	broad.mit.edu	37	chr2	179542390	179542392	+	In_Frame_Del	DEL	CTT	CTT	-																															aggtttaacttctggaaggaCttcttcttcaggtacaaatt																								rs397517549	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:179542390_179542392delCTT	ENST00000591111.1	-	144	33520_33522	c.33296_33298delAAG	c.(33295-33300)gaagtc>gtc	p.E11099del	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_In_Frame_Del_p.E10172del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E11416del|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10217	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGAAGGACTTCTTCTTCAGG	0.443														15	0.00299521	0	0	5008	,	,		15455	0		0	False		,,,				2504	0.0153					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30514-30519)gaagtc>gtc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.																																				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542390_179542392delCTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33296_33298delAAG	2.37:g.179542396_179542398delCTT	ENSP00000465570:p.Glu11099del					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_In_Frame_Del_p.E6833del|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.E10172del	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30740_30742	-			11099			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37	c.30515_30517delAAG																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179542392	CTT	-	179542390	7	5	271	1	0	1	0	1	0	0	0	0	16732	565	20	0	70148	0	TTN	2	179542390	In_Frame_Del	DEL	CTT	TCGA-76-6283-01A-11D-1845-08	169914094	179542390	63656983	19	19303											
COL3A1	1281	broad.mit.edu	37	chr2	189859008	189859008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactgatgggagcccggggtCctccaggaccagccggtgct	6	6	16	13	2	0	1	0	1	0	0	2	4	2	3	5	5	3	1	5	5	0	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:189859008C>T	ENST00000304636.3	+	18	1413	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P415S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	415	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGCCCGGGGTCCTCCAGGACC	0.498																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1243-1245)Cct>Tct		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						74	83	80					2																	189859008		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859008C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1243C>T	2.37:g.189859008C>T	ENSP00000304408:p.Pro415Ser					COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	p.P415S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		17	1360	+			415			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1243C>T	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.316824|3.316824	0.60524|0.60524	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.98649|.	-5.05;-5.05|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.51477|.	D|.	0.000094|.	T|T	0.75613|0.75613	0.3873|0.3873	M|M	0.67953|0.67953	2.075|2.075	0.50632|0.50632	D|D	0.999883|0.999883	P|.	0.51791|.	0.948|.	P|.	0.54140|.	0.743|.	T|T	0.72912|0.72912	-0.4148|-0.4148	10|5	0.16420|.	T|.	0.52|.	.|.	19.8898|19.8898	0.96926|0.96926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	415|.	P02461|.	CO3A1_HUMAN|.	S|F	415|81	ENSP00000304408:P415S;ENSP00000315243:P415S|.	ENSP00000304408:P415S|.	P|S	+|+	1|2	0|0	COL3A1|COL3A1	189567253|189567253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.853000|4.853000	0.62911|0.62911	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.498	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		T	189859008	C	T	189859008	3	4	271	1	0	0	0	0	1	0	0	0	3688	855	30	3	1313	3	COL3A1	2	189859008	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	10316618	189859008	53340365	20	19304											
NUP210	23225	broad.mit.edu	37	chr3	13427820	13427820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccttgtagtgaatggAggttcccaccatcaggtaga	10	10	11	10	0	1	2	1	1	0	1	2	3	2	3	3	3	1	4	3	3	3	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:13427820A>G	ENST00000254508.5	-	6	854	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	258					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGTGAATGGAGGTTCCCACC	0.468																																						uc003bxv.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(772-774)Tcc>Ccc		Homo sapiens nucleoporin 210kDa (NUP210), mRNA.							210	184	193					3																	13427820		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13427820A>G	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.772T>C	3.37:g.13427820A>G	ENSP00000254508:p.Ser258Pro						p.S258P	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			5	855	-	all_neural(104;0.187)		258					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.772T>C	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628626	0.28978	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.31	2.85	0.33270	.	0.104567	0.64402	D	0.000002	T	0.16896	0.0406	M	0.63428	1.95	0.52099	D	0.999946	D	0.64830	0.994	P	0.61658	0.892	T	0.00333	-1.1810	10	0.36615	T	0.2	1.0E-4	11.9124	0.52747	0.705:0.295:0.0:0.0	.	258	Q8TEM1	PO210_HUMAN	P	258	ENSP00000254508:S258P	ENSP00000254508:S258P	S	-	1	0	NUP210	13402820	1.000000	0.71417	0.507000	0.27676	0.016000	0.09150	4.428000	0.59894	0.302000	0.22762	-0.331000	0.08364	TCC		0.468	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		G	13427820	A	G	13427820	3	3	271	1	0	0	0	0	1	0	0	0	10760	304	11	4	5031	4	NUP210	3	13427820	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		13427820	184594610	21	19305											
NKTR	4820	broad.mit.edu	37	chr3	42678511	42678511	+	Frame_Shift_Del	DEL	A	A	-																															aagaaaaaaaggttaagcatAaaaagaaagggaaaaagcag																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:42678511delA	ENST00000232978.8	+	13	1503	c.1315delA	c.(1315-1317)aaafs	p.K441fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	441	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTTAAGCATAAAAAGAAAGG	0.368																																						uc003clo.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1315-1317)aaafs		Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.							48	47	47					3																	42678511		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678511delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1315delA	3.37:g.42678511delA	ENSP00000232978:p.Lys441fs					NKTR_uc003clm.1_Frame_Shift_Del_p.K186fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Del_p.K186fs|NKTR_uc003clq.1_Frame_Shift_Del_p.K329fs|NKTR_uc003clr.1_Frame_Shift_Del_p.K186fs|NKTR_uc003cls.3_Frame_Shift_Del_p.K139fs	p.K439fs	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	12	1462	+			439			Arg/Lys-rich (basic).			Frame_Shift_Del	DEL	ENST00000232978.8	37	c.1315delA	CCDS2702.1																																																																																				0.368	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		-	42678511	A	-	42678511	7	5	271	1	0	1	0	1	0	0	0	0	10448	363	13	0	1361	0	NKTR	3	42678511	Frame_Shift_Del	DEL	A	TCGA-76-6283-01A-11D-1845-08	29250691	42678511	155343919	22	19306											
ALAS1	211	broad.mit.edu	37	chr3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggagggattggggatcggGatggagtcatgccaaaaatg	11	7	18	5	2	1	0	1	0	0	0	2	5	1	5	1	6	1	0	1	6	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52242221G>A	ENST00000394965.2	+	9	1648	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	ALAS1_ENST00000484952.1_Missense_Mutation_p.D430N|ALAS1_ENST00000310271.2_Missense_Mutation_p.D430N|ALAS1_ENST00000469224.1_Missense_Mutation_p.D430N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	430					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGGGGATCGGGATGGAGTCAT	0.483																																						uc011bec.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1339-1341)Gat>Aat		Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						141	128	132					3																	52242221		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52242221G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1288G>A	3.37:g.52242221G>A	ENSP00000378416:p.Asp430Asn					ALAS1_uc003dcy.2_Missense_Mutation_p.D430N|ALAS1_uc003dcz.2_Missense_Mutation_p.D430N	p.D447N	NM_199166	NP_954635	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	8	1659	+			430						Missense_Mutation	SNP	ENST00000394965.2	37	c.1339G>A	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433973	0.96150	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	M	0.91612	3.225	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.98880	1.0769	10	0.87932	D	0	-17.307	18.1523	0.89678	0.0:0.0:1.0:0.0	.	447;430	B4DVA0;P13196	.;HEM1_HUMAN	N	430	ENSP00000417719:D430N;ENSP00000378416:D430N;ENSP00000309259:D430N;ENSP00000418779:D430N	ENSP00000309259:D430N	D	+	1	0	ALAS1	52217261	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.852000	0.99516	2.372000	0.80975	0.655000	0.94253	GAT		0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			A	52242221	G	A	52242221	3	1	271	1	0	0	0	0	1	0	0	0	484	1174	41	3	1314	3	ALAS1	3	52242221	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	9563710	52242221	145780209	23	19307											
DNAH1	25981	broad.mit.edu	37	chr3	52422839	52422839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcatcaacgggctgtcGgatgagaaggtgcgctggca	9	7	15	10	3	2	1	2	1	0	1	3	3	2	2	0	4	3	4	0	4	2	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52422839G>A	ENST00000420323.2	+	59	9642	c.9381G>A	c.(9379-9381)tcG>tcA	p.S3127S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3192					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGGCTGTCGGATGAGAAGG	0.667																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9379-9381)tcG>tcA		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							44	52	49					3																	52422839		2090	4209	6299	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52422839G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9381G>A	3.37:g.52422839G>A						DNAH1_uc003ddv.3_5'UTR	p.S3127S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	58	9642	+			3192					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9381G>A	CCDS46842.1																																																																																				0.667	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52422839	G	A	52422839	2	1	271	1	0	0	0	0	0	0	0	1	4597	1103	39	2		2	DNAH1	3	52422839	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	180618	52422839	145599591	24	19308											
SERPINI1	5274	broad.mit.edu	37	chr3	167525043	167525043	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccaggttcacagtggAacaggaaattgatttaaaag	14	11	10	6	0	2	1	1	1	1	0	3	3	2	3	1	3	1	2	1	3	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:167525043A>C	ENST00000295777.5	+	6	1324	c.893A>C	c.(892-894)gAa>gCa	p.E298A	SERPINI1_ENST00000446050.2_Missense_Mutation_p.E298A|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	298					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCACAGTGGAACAGGAAATT	0.338																																						uc003ffa.4																			0		p.E298E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(892-894)gAa>gCa		Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.							62	68	66					3																	167525043		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525043A>C	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.893A>C	3.37:g.167525043A>C	ENSP00000295777:p.Glu298Ala					SERPINI1_uc003ffb.4_Missense_Mutation_p.E298A	p.E298A	NM_001122752	NP_005016	Q99574	NEUS_HUMAN			5	1091	+			298					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.893A>C	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701202	0.68501	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979	T;T	0.78364	-1.17;-1.17	5.36	5.36	0.76844	Serpin domain (3);	0.046212	0.85682	D	0.000000	D	0.89591	0.6759	M	0.90977	3.165	0.58432	D	0.999995	D	0.67145	0.996	D	0.68353	0.957	D	0.91794	0.5446	10	0.87932	D	0	.	13.5774	0.61883	1.0:0.0:0.0:0.0	.	298	Q99574	NEUS_HUMAN	A	298;298;46	ENSP00000397373:E298A;ENSP00000295777:E298A	ENSP00000295777:E298A	E	+	2	0	SERPINI1	169007737	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.408000	0.66368	2.025000	0.59659	0.533000	0.62120	GAA		0.338	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			C	167525043	A	C	167525043	3	2	271	1	0	0	0	0	1	0	0	0	14118	246	9	5	911	5	SERPINI1	3	167525043	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	115102204	167525043	30497387	25	19309											
ATP8A1	10396	broad.mit.edu	37	chr4	42581956	42581956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttgtacatttgtaatccGttccacatttgagagcttaa	12	16	6	7	1	0	1	0	1	0	1	2	2	2	1	2	0	2	4	2	0	4	7	rs374228770		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:42581956G>A	ENST00000381668.5	-	11	1105	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R292W	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	292					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R292W(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTGTAATCCGTTCCACATTT	0.343																																						uc003gwr.2																			1	Substitution - Missense(1)	p.R292W(2)	pancreas(1)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(874-876)Cgg>Tgg		Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)	G	TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	52	51	52		874,874	2.8	1	4		52	0,8600		0,0,4300	no	missense,missense	ATP8A1	NM_001105529.1,NM_006095.2	101,101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	292/1150,292/1165	42581956	1,13003	2202	4300	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42581956G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.874C>T	4.37:g.42581956G>A	ENSP00000371084:p.Arg292Trp					ATP8A1_uc003gws.2_Missense_Mutation_p.R292W|ATP8A1_uc011byz.1_Missense_Mutation_p.R292W	p.R292W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			10	1106	-			292					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.874C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604489	0.66445	2.27E-4	0.0	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.76060	-0.99;-0.99	5.66	2.78	0.32641	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.978;0.953	D	0.93227	0.6614	10	0.87932	D	0	.	16.5221	0.84320	0.0:0.0:0.5557:0.4443	.	292;292;292	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	W	292	ENSP00000371084:R292W;ENSP00000264449:R292W	ENSP00000264449:R292W	R	-	1	2	ATP8A1	42276713	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.628000	0.46477	0.816000	0.34421	0.650000	0.86243	CGG		0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		A	42581956	G	A	42581956	3	1	271	1	0	0	0	0	1	0	0	0	1192	1144	40	1	2728	1	ATP8A1	4	42581956	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		42581956	148572320	26	19310											
CENPE	1062	broad.mit.edu	37	chr4	104065619	104065619	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggttttcatgtagtatctGagtcaaccttatattctccg	10	16	7	8	1	4	1	2	1	2	0	5	1	4	1	2	1	1	3	2	1	6	7			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:104065619G>A	ENST00000265148.3	-	33	5103	c.5014C>T	c.(5014-5016)Cag>Tag	p.Q1672*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q1647*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1672					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAGTATCTGAGTCAACCTT	0.393																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(5014-5016)Cag>Tag		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							182	175	177					4																	104065619		2203	4300	6503	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104065619G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5014C>T	4.37:g.104065619G>A	ENSP00000265148:p.Gln1672*					CENPE_uc003hxc.1_Nonsense_Mutation_p.Q1647*	p.Q1672*	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	32	5104	-			1672					A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.5014C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	42	9.646144	0.99229	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	5.13	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.6834	0.77391	0.0:0.5193:0.4807:0.0	.	.	.	.	X	1672;1672;1647	.	ENSP00000265148:Q1672X	Q	-	1	0	CENPE	104285068	0.997000	0.39634	0.335000	0.25508	0.503000	0.33858	1.857000	0.39399	0.154000	0.19237	0.544000	0.68410	CAG		0.393	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104065619	G	A	104065619	4	1	271	1	0	0	0	0	0	1	0	0	3230	1299	45	3	3159	3	CENPE	4	104065619	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	61483663	104065619	87088657	27	19311											
KIAA1109	84162	broad.mit.edu	37	chr4	123184110	123184110	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagaagcagtgctgcTgtgaaaagtagctccctaac	12	8	10	11	0	1	2	1	1	0	1	2	3	2	2	2	0	5	5	2	0	5	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123184110T>C	ENST00000264501.4	+	43	7327	c.6954T>C	c.(6952-6954)gcT>gcC	p.A2318A	KIAA1109_ENST00000455637.1_Silent_p.A2318A|KIAA1109_ENST00000388738.3_Silent_p.A2318A			Q2LD37	K1109_HUMAN	KIAA1109	2318					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAGTGCTGCTGTGAAAAGTA	0.463																																						uc003ieh.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(6952-6954)gcT>gcC		Homo sapiens KIAA1109 (KIAA1109), mRNA.							91	94	93					4																	123184110		1950	4143	6093	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123184110T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6954T>C	4.37:g.123184110T>C						KIAA1109_uc003iel.1_Silent_p.A253A|KIAA1109_uc003iek.2_Silent_p.A937A	p.A2318A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			40	6999	+			2318					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.6954T>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.416|5.416	0.261984|0.261984	0.10239|0.10239	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000446180	.|.	.|.	.|.	5.31|5.31	-3.97|-3.97	0.04094|0.04094	.|.	.|.	.|.	.|.	.|.	T|T	0.36220|0.36220	0.0959|0.0959	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40590|0.40590	-0.9555|-0.9555	4|4	.|.	.|.	.|.	.|.	0.7377|0.7377	0.00968|0.00968	0.3517:0.1289:0.1745:0.3448|0.3517:0.1289:0.1745:0.3448	.|.	.|.	.|.	.|.	R|P	276|891	.|.	.|.	C|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123403560|123403560	0.267000|0.267000	0.24122|0.24122	0.995000|0.995000	0.50966|0.50966	0.482000|0.482000	0.33219|0.33219	-0.397000|-0.397000	0.07269|0.07269	-0.209000|-0.209000	0.10156|0.10156	-0.333000|-0.333000	0.08304|0.08304	TGT|CTG		0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123184110	T	C	123184110	2	2	271	1	0	0	0	0	0	0	0	1	8208	1567	55	4		4	KIAA1109	4	123184110	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	19118491	123184110	67970166	28	19312											
KIAA1109	84162	broad.mit.edu	37	chr4	123192519	123192519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcaaaaccagaaaacatCgggactttcgttcatctgac	13	10	6	12	2	3	2	2	1	1	1	5	3	3	3	2	1	2	1	2	1	4	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123192519C>T	ENST00000264501.4	+	47	8213	c.7840C>T	c.(7840-7842)Cgg>Tgg	p.R2614W	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2614W|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2614W			Q2LD37	K1109_HUMAN	KIAA1109	2614					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGAAAACATCGGGACTTTCG	0.403																																						uc003ieh.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(7840-7842)Cgg>Tgg		Homo sapiens KIAA1109 (KIAA1109), mRNA.							92	85	87					4																	123192519		1879	4103	5982	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192519C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7840C>T	4.37:g.123192519C>T	ENSP00000264501:p.Arg2614Trp					KIAA1109_uc003iel.1_Missense_Mutation_p.R549W|KIAA1109_uc003iek.2_Missense_Mutation_p.R1233W	p.R2614W	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			44	7885	+			2614					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7840C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477268|3.477268	0.63849|0.63849	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.24723|.	2.43;2.43;1.84|.	5.97|5.97	4.18|4.18	0.49190|0.49190	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.48677|0.48677	0.1513|0.1513	N|N	0.19112|0.19112	0.55|0.55	0.44469|0.44469	D|D	0.997401|0.997401	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.992;0.996;0.993|.	T|T	0.34428|0.34428	-0.9829|-0.9829	10|5	0.87932|.	D|.	0|.	.|.	14.0565|14.0565	0.64772|0.64772	0.5603:0.4397:0.0:0.0|0.5603:0.4397:0.0:0.0	.|.	2614;2613;2614|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	W|L	2614|571	ENSP00000264501:R2614W;ENSP00000373390:R2614W;ENSP00000389925:R2614W|.	ENSP00000264501:R2614W|.	R|S	+|+	1|2	2|0	KIAA1109|KIAA1109	123411969|123411969	0.975000|0.975000	0.34042|0.34042	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	1.393000|1.393000	0.34497|0.34497	0.788000|0.788000	0.33755|0.33755	0.585000|0.585000	0.79938|0.79938	CGG|TCG		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123192519	C	T	123192519	3	4	271	1	0	0	0	0	1	0	0	0	8208	875	31	2	8018	2	KIAA1109	4	123192519	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	8409	123192519	67961757	29	19313											
SLC10A7	84068	broad.mit.edu	37	chr4	147227117	147227117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacaacagtcataaaaagCtgagaaaaaatagatgtgaa	22	6	7	6	0	1	3	1	2	0	2	1	4	1	3	1	0	2	1	1	0	9	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:147227117C>T	ENST00000507030.1	-	7	515	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SLC10A7_ENST00000394062.3_Silent_p.Q172Q|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000432059.2_Silent_p.Q159Q|SLC10A7_ENST00000335472.7_Silent_p.Q172Q			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	172					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCATAAAAAGCTGAGAAAAAA	0.338																																						uc010ioz.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.(514-516)caG>caA		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.							79	75	77					4																	147227117		2203	4300	6503	SO:0001819	synonymous_variant	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147227117C>T	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.516G>A	4.37:g.147227117C>T						SLC10A7_uc003ikr.2_Silent_p.Q172Q|SLC10A7_uc010ipa.2_Silent_p.Q159Q|SLC10A7_uc003iks.2_Non-coding_Transcript	p.Q172Q	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			6	770	-	all_hematologic(180;0.151)		172					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Silent	SNP	ENST00000507030.1	37	c.516G>A	CCDS34073.1																																																																																				0.338	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		T	147227117	C	T	147227117	2	4	271	1	0	0	0	0	0	0	0	1	14379	796	28	3		3	SLC10A7	4	147227117	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	24034598	147227117	43927159	30	19314											
ZFR	51663	broad.mit.edu	37	chr5	32388633	32388636	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															gttcttgttcttctcatgttCagacaaactgtctgaaacga																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:32388633_32388636delCAGA	ENST00000265069.8	-	13	2389_2392	c.2287_2290delTCTG	c.(2287-2292)tctgaafs	p.SE763fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	763	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTCATGTTCAGACAAACTGTCT	0.358																																						uc003jhr.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2287-2292)tctgaafs		Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.																																				SO:0001589	frameshift_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32388633_32388636delCAGA	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2287_2290delTCTG	5.37:g.32388633_32388636delCAGA	ENSP00000265069:p.Ser763fs					ZFR_uc011cny.1_Non-coding_Transcript	p.S763fs	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2367_2370	-			763					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	c.2287_2290delTCTG	CCDS34139.1																																																																																				0.358	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			-	32388636	CAGA	-	32388633	7	5	271	1	0	1	0	1	0	0	0	0	17656	835	29	0	966	0	ZFR	5	32388633	Frame_Shift_Del	DEL	CAGA	TCGA-76-6283-01A-11D-1845-08		32388633	148526627	31	19315											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881270	33881270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcccaactctggtgcccTgctgtagaaccgtgccactg	6	9	10	16	2	1	1	0	0	1	1	2	1	2	1	5	1	5	2	5	1	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:33881270T>C	ENST00000504830.1	-	2	778	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.Q148R|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q148R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	148					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGTGCCCTGCTGTAGAAC	0.577										HNSCC(64;0.19)																												uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(442-444)cAg>cGg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							58	56	57					5																	33881270		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881270T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.443A>G	5.37:g.33881270T>C	ENSP00000422554:p.Gln148Arg	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q148R|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q148R	p.Q148R	NM_030955	NP_112217	P58397	ATS12_HUMAN			1	606	-			148					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.443A>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501441	0.44455	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.05996	3.36;3.36;3.36	5.65	2.09	0.27110	Peptidase M12B, propeptide (1);	0.484707	0.22074	N	0.064986	T	0.05502	0.0145	L	0.48986	1.54	0.09310	N	0.999999	B;P;B	0.38677	0.004;0.642;0.085	B;B;B	0.37550	0.006;0.253;0.158	T	0.32824	-0.9892	10	0.12430	T	0.62	.	6.0121	0.19582	0.0:0.1832:0.3394:0.4773	.	148;148;148	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	R	148	ENSP00000422554:Q148R;ENSP00000344847:Q148R;ENSP00000421638:Q148R	ENSP00000344847:Q148R	Q	-	2	0	ADAMTS12	33917027	0.101000	0.21875	0.992000	0.48379	0.892000	0.51952	0.876000	0.28092	0.433000	0.26313	0.383000	0.25322	CAG		0.577	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33881270	T	C	33881270	3	2	271	1	0	0	0	0	1	0	0	0	257	1580	55	4	4433	4	ADAMTS12	5	33881270	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	1492637	33881270	147033990	32	19316											
GPR98	84059	broad.mit.edu	37	chr5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaaaaggaacatatggccGtataaccatagcatgggaag	16	8	10	7	1	0	0	0	0	0	0	0	2	0	2	2	3	3	2	2	3	8	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90046453G>A	ENST00000405460.2	+	53	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3687	Calx-beta 24. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATATGGCCGTATAACCATA	0.343																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11059-11061)cGt>cAt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							188	186	186					5																	90046453		1869	4103	5972	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90046453G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11060G>A	5.37:g.90046453G>A	ENSP00000384582:p.Arg3687His					GPR98_uc003kjt.3_Missense_Mutation_p.R1393H|GPR98_uc003kjv.3_Missense_Mutation_p.R1287H	p.R3687H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	52	11156	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3687					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11060G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092138|2.092138	0.36952|0.36952	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27720|.	1.65|.	5.52|5.52	1.66|1.66	0.24008|0.24008	.|.	0.152878|.	0.64402|.	N|.	0.000017|.	T|T	0.55097|0.55097	0.1899|0.1899	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	B;B|.	0.26483|.	0.15;0.101|.	B;B|.	0.18561|.	0.022;0.01|.	T|T	0.43653|0.43653	-0.9378|-0.9378	10|5	0.37606|.	T|.	0.19|.	.|.	11.2443|11.2443	0.48987|0.48987	0.2377:0.0:0.7623:0.0|0.2377:0.0:0.7623:0.0	.|.	3687;3687|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|I	3687|1253	ENSP00000384582:R3687H|.	ENSP00000296619:R3687H|.	R|V	+|+	2|1	0|0	GPR98|GPR98	90082209|90082209	0.096000|0.096000	0.21769|0.21769	0.050000|0.050000	0.19076|0.19076	0.779000|0.779000	0.44077|0.44077	0.982000|0.982000	0.29539|0.29539	0.028000|0.028000	0.15324|0.15324	-0.123000|-0.123000	0.14984|0.14984	CGT|GTA		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90046453	G	A	90046453	3	1	271	1	0	0	0	0	1	0	0	0	6721	1145	40	1	11270	1	GPR98	5	90046453	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	56165183	90046453	90868807	33	19317											
GPR98	84059	broad.mit.edu	37	chr5	90144497	90144497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctttcagtgttgccagccGaactcttttctatgagattc	8	15	8	10	1	3	1	1	1	2	1	4	3	3	1	2	0	4	2	2	0	2	6	rs374682222		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90144497G>A	ENST00000405460.2	+	79	17159	c.17063G>A	c.(17062-17064)cGa>cAa	p.R5688Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R1349Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5688					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGCCAGCCGAACTCTTTTC	0.323																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17062-17064)cGa>cAa		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.		G	GLN/ARG	0,3616		0,0,1808	59	53	55		17063	5.1	1	5		55	1,8139		0,1,4069	no	missense	GPR98	NM_032119.3	43	0,1,5877	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	5688/6307	90144497	1,11755	1808	4070	5878	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90144497G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17063G>A	5.37:g.90144497G>A	ENSP00000384582:p.Arg5688Gln					GPR98_uc003kjt.3_Missense_Mutation_p.R3394Q|GPR98_uc003kjw.3_Missense_Mutation_p.R1349Q	p.R5688Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	17159	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5688					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17063G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793268	0.90453	0.0	1.23E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.33438	1.41;1.48	5.95	5.09	0.68999	.	0.057543	0.64402	D	0.000001	T	0.52224	0.1721	M	0.66939	2.045	0.53005	D	0.999969	D;B;D	0.89917	1.0;0.4;1.0	P;B;D	0.67900	0.901;0.022;0.954	T	0.52540	-0.8562	9	.	.	.	.	15.2664	0.73666	0.067:0.0:0.933:0.0	.	1349;5688;1349	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	5688;5688;1349	ENSP00000384582:R5688Q;ENSP00000392618:R1349Q	.	R	+	2	0	GPR98	90180253	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.790000	0.55461	1.524000	0.49035	0.655000	0.94253	CGA		0.323	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90144497	G	A	90144497	3	1	271	1	0	0	0	0	1	0	0	0	6721	1058	37	2	17377	2	GPR98	5	90144497	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	98044	90144497	90770763	34	19318											
GPR98	84059	broad.mit.edu	37	chr5	90159635	90159635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactccatgtttgcagctaaActtctgactcacatgatggc	10	13	7	11	0	2	2	1	2	1	0	3	2	3	2	1	1	4	3	1	1	3	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90159635A>T	ENST00000405460.2	+	83	17913	c.17817A>T	c.(17815-17817)aaA>aaT	p.K5939N	GPR98_ENST00000425867.2_Missense_Mutation_p.K1600N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5939					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCAGCTAAACTTCTGACTC	0.423																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17815-17817)aaA>aaT		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							205	190	195					5																	90159635		1932	4132	6064	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90159635A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17817A>T	5.37:g.90159635A>T	ENSP00000384582:p.Lys5939Asn					GPR98_uc003kjt.3_Missense_Mutation_p.K3645N|GPR98_uc003kjw.3_Missense_Mutation_p.K1600N	p.K5939N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	82	17913	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5939					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17817A>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.002389	0.93227	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.44482	0.92;0.92	6.05	-6.97	0.01616	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.77313	2.365	0.58432	D	0.999998	D;D;D	0.76494	0.973;0.999;0.967	P;D;P	0.75020	0.901;0.985;0.84	T	0.68674	-0.5346	9	.	.	.	.	16.6581	0.85234	0.4941:0.0:0.5059:0.0	.	1600;5939;1600	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	5939;5939;1600	ENSP00000384582:K5939N;ENSP00000392618:K1600N	.	K	+	3	2	GPR98	90195391	1.000000	0.71417	0.863000	0.33907	0.998000	0.95712	0.876000	0.28092	-1.199000	0.02666	0.528000	0.53228	AAA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90159635	A	T	90159635	3	4	271	1	0	0	0	0	1	0	0	0	6721	40	2	5	18147	5	GPR98	5	90159635	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	15138	90159635	90755625	35	19319											
EPB41L4A	64097	broad.mit.edu	37	chr5	111540130	111540130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggggtttcggcgacGcgtgtaagggaactttggcg	8	8	18	7	5	0	0	0	0	0	0	1	3	0	2	0	6	1	2	0	6	2	3	rs562929678		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:111540130G>A	ENST00000261486.5	-	15	1594	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000505825.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	440						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTTCGGCGACGCGTGTAAGGG	0.488																																						uc003kpv.1																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1318-1320)Cgt>Tgt		Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.							185	186	186					5																	111540130		1965	4150	6115	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111540130G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1318C>T	5.37:g.111540130G>A	ENSP00000261486:p.Arg440Cys					EPB41L4A_uc003kpp.1_Missense_Mutation_p.R67C	p.R440C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	14	1592	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	440					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1318C>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445010	0.83993	.	.	ENSG00000129595	ENST00000261486	D	0.85088	-1.94	5.89	5.89	0.94794	.	0.062088	0.64402	D	0.000003	D	0.91825	0.7413	M	0.71581	2.175	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.79108	0.926;0.992	D	0.91919	0.5546	10	0.66056	D	0.02	.	17.1785	0.86848	0.0:0.0:1.0:0.0	.	440;67	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	C	440	ENSP00000261486:R440C	ENSP00000261486:R440C	R	-	1	0	EPB41L4A	111568029	0.994000	0.37717	0.873000	0.34254	0.732000	0.41865	4.472000	0.60189	2.793000	0.96121	0.655000	0.94253	CGT		0.488	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			A	111540130	G	A	111540130	3	1	271	1	0	0	0	0	1	0	0	0	5155	1087	38	1	778	1	EPB41L4A	5	111540130	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	21380495	111540130	69375130	36	19320											
ATG12	9140	broad.mit.edu	37	chr5	115177086	115177087	+	Splice_Site	INS	-	-	T																															ccggaaataaattcagttacINStttttttcttggtgtcgcca																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:115177086_115177087insT	ENST00000509910.1	-	1	468_469		c.e1+1		ATG12_ENST00000500945.2_Splice_Site|ATG12_ENST00000274459.4_Splice_Site|AP3S1_ENST00000316788.7_5'Flank|ATG12_ENST00000509598.1_5'Flank			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AATTCAGTTACTTTTTTTCTTG	0.55																																						uc003krh.3																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.e1+1		Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177086_115177087insT	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.163+1->A	5.37:g.115177093_115177093dupT						AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Splice_Site|ATG12_uc021ycs.1_Splice_Site|ATG12_uc003kri.3_Splice_Site_p.I102_splice	p.I55_splice	NM_004707	NP_004698	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	462	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	55					Q6PJV2	Splice_Site	INS	ENST00000509910.1	37	c.163_splice	CCDS4122.2																																																																																				0.55	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707	Intron	T	115177087	-	T	115177086	8	5	271	1	0	1	1	0	0	0	1	0	1090	579	20	0	274	0	ATG12	5	115177086	Splice_Site	INS	-	TCGA-76-6283-01A-11D-1845-08	3636956	115177086	65738174	37	19321											
PRR16	51334	broad.mit.edu	37	chr5	120022105	120022105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcctcgagaacgagttCggtttaatgaaaaagtacag	14	8	12	7	3	0	2	0	1	0	1	2	4	0	2	1	2	2	3	1	2	5	4	rs137912065		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:120022105C>T	ENST00000407149.2	+	2	825	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	PRR16_ENST00000505123.1_Missense_Mutation_p.R136W|PRR16_ENST00000446965.1_Missense_Mutation_p.R136W|PRR16_ENST00000379551.2_Missense_Mutation_p.R183W			Q569H4	LARGN_HUMAN	proline rich 16	206	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAACGAGTTCGGTTTAATGA	0.473													C|||	0	0	0	0	5008	,	,		18866	0		0	False		,,,				2504	0					uc003ksq.3																			0		p.R206S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(616-618)Cgg>Tgg		Homo sapiens proline rich 16 (PRR16), mRNA.		C	TRP/ARG	0,4406		0,0,2203	70	71	71		547	2.3	0.7	5	dbSNP_134	71	7,8593	5.7+/-21.5	0,7,4293	yes	missense	PRR16	NM_016644.1	101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	183/282	120022105	7,12999	2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022105C>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.616C>T	5.37:g.120022105C>T	ENSP00000385118:p.Arg206Trp					PRR16_uc003ksp.3_Missense_Mutation_p.R183W|PRR16_uc003ksr.3_Missense_Mutation_p.R136W	p.R206W	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	1	779	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	206			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.616C>T		.	.	.	.	.	.	.	.	.	.	C	18.44	3.623465	0.66901	0.0	8.14E-4	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.34	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.69823	2.125	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80618	-0.1302	9	.	.	.	-0.0429	13.121	0.59327	0.416:0.584:0.0:0.0	.	206;183	Q569H4;Q569H4-3	PRR16_HUMAN;.	W	206;183;136;136;136	ENSP00000385118:R206W;ENSP00000368869:R183W;ENSP00000421256:R136W;ENSP00000423446:R136W;ENSP00000405491:R136W	.	R	+	1	2	PRR16	120050004	0.991000	0.36638	0.661000	0.29709	0.994000	0.84299	2.950000	0.49081	0.609000	0.30018	0.650000	0.86243	CGG		0.473	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		T	120022105	C	T	120022105	3	4	271	1	0	0	0	0	1	0	0	0	12589	875	31	2	553	2	PRR16	5	120022105	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	4845019	120022105	60893155	38	19322											
CSNK1G3	1456	broad.mit.edu	37	chr5	122893189	122893189	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtttgtttttcaattagGagcccatgaaatcaagagca	12	15	8	6	0	2	2	2	1	0	1	2	3	2	3	1	1	2	3	1	1	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:122893189G>T	ENST00000361991.2	+	3	250	c.220G>T	c.(220-222)Gag>Tag	p.E74*	CSNK1G3_ENST00000395412.1_Splice_Site_p.E74*|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000510842.2_Splice_Site_p.E74*|CSNK1G3_ENST00000345990.4_Splice_Site_p.E74*|CSNK1G3_ENST00000512718.3_5'UTR|CSNK1G3_ENST00000521364.1_Splice_Site_p.E74*|CSNK1G3_ENST00000395411.1_Splice_Site_p.E74*|CSNK1G3_ENST00000360683.2_Splice_Site_p.E74*			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTTCAATTAGGAGCCCATGAA	0.303																																					Pancreas(187;2868 2964 4353 6297)	uc003ktm.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.e4-1		Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.							51	55	54					5																	122893189		2203	4296	6499	SO:0001630	splice_region_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122893189G>T	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.220-1G>T	5.37:g.122893189G>T						CSNK1G3_uc003ktl.3_Splice_Site_p.E74_splice|CSNK1G3_uc003ktn.3_Splice_Site_p.E74_splice|CSNK1G3_uc003kto.3_Splice_Site_p.E74_splice|CSNK1G3_uc011cwr.2_Splice_Site|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Splice_Site_p.E74_splice	p.E74_splice	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	4	939	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	74			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Nonsense_Mutation	SNP	ENST00000361991.2	37	c.220_splice	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010177	0.97200	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5899	0.91206	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	.	E	+	1	0	CSNK1G3	122921088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.005000	0.88553	2.865000	0.98341	0.655000	0.94253	GAG		0.303	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	Nonsense_Mutation	T	122893189	G	T	122893189	5	4	271	1	0	0	0	0	0	0	1	0	3956	1188	41	5	230	5	CSNK1G3	5	122893189	Splice_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	2871084	122893189	58022071	39	19323											
TRPC7	57113	broad.mit.edu	37	chr5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcgttgtgtgccggCgctgcatgtttttgaaggtg	4	13	14	10	3	1	1	1	1	0	0	1	1	1	1	2	2	3	4	2	2	1	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:135693041C>T	ENST00000513104.1	-	2	317	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_ENST00000355180.3_Missense_Mutation_p.R12H|TRPC7_ENST00000426057.2_Missense_Mutation_p.R12H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	12					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(34-36)cGc>cAc		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							33	37	36					5																	135693041		2091	4226	6317	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693041C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.35G>A	5.37:g.135693041C>T	ENSP00000426070:p.Arg12His					TRPC7_uc010jef.2_Missense_Mutation_p.R3H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R12H|TRPC7_uc010jei.2_Missense_Mutation_p.R12H	p.R12H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	257	-			12					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.35G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045401	0.93685	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80304	-1.21;-1.36;-1.36	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	L	0.54323	1.7	0.48511	D	0.999663	D;D;D;D	0.89917	0.999;0.998;1.0;1.0	D;P;D;D	0.73380	0.98;0.897;0.915;0.931	D	0.88435	0.3038	10	0.87932	D	0	-14.9366	19.3333	0.94303	0.0:1.0:0.0:0.0	.	12;12;12;12	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	12	ENSP00000347312:R12H;ENSP00000441628:R12H;ENSP00000426070:R12H	ENSP00000265193:R12H	R	-	2	0	TRPC7	135720940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	CGC		0.572	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135693041	C	T	135693041	3	4	271	1	0	0	0	0	1	0	0	0	16581	768	27	1	2597	1	TRPC7	5	135693041	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	12799852	135693041	45222219	40	19324											
NDFIP1	80762	broad.mit.edu	37	chr5	141511419	141511419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaacaggctgcaggtgAtgctcctccaccttacagca	10	8	9	14	0	0	2	0	2	0	0	2	2	2	2	4	2	5	4	4	2	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:141511419A>G	ENST00000253814.4	+	2	580	c.110A>G	c.(109-111)gAt>gGt	p.D37G	NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	37					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGGTGATGCTCCTCCA	0.408																																						uc003lmi.4																			0		p.D37D(1)		large_intestine(3)|lung(1)|ovary(1)	5						c.(109-111)gAt>gGt		Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.							130	138	135					5																	141511419		2203	4300	6503	SO:0001583	missense	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141511419A>G	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.110A>G	5.37:g.141511419A>G	ENSP00000253814:p.Asp37Gly					NDFIP1_uc003lmj.1_Missense_Mutation_p.D37G	p.D37G	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	326	+		all_hematologic(541;0.0999)	37					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	c.110A>G	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841506	0.91197	.	.	ENSG00000131507	ENST00000253814;ENST00000313129	.	.	.	5.74	5.74	0.90152	.	0.044765	0.85682	D	0.000000	T	0.74122	0.3675	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.999;0.962	D;P	0.68765	0.96;0.597	T	0.72629	-0.4235	9	0.36615	T	0.2	-26.0109	16.0448	0.80714	1.0:0.0:0.0:0.0	.	37;37	Q9BT67-2;Q9BT67	.;NFIP1_HUMAN	G	37	.	ENSP00000253814:D37G	D	+	2	0	NDFIP1	141491603	1.000000	0.71417	0.796000	0.32109	0.929000	0.56500	7.003000	0.76310	2.206000	0.71126	0.482000	0.46254	GAT		0.408	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		G	141511419	A	G	141511419	3	3	271	1	0	0	0	0	1	0	0	0	10245	333	12	4	116	4	NDFIP1	5	141511419	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	5818378	141511419	39403841	41	19325											
GABRG2	2566	broad.mit.edu	37	chr5	161530925	161530925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaagaaattgtttatcAatggaagcgaagttctgttg	13	13	11	4	2	2	2	1	1	1	1	2	4	2	3	0	1	1	3	0	1	6	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:161530925A>T	ENST00000361925.4	+	6	882	c.662A>T	c.(661-663)cAa>cTa	p.Q221L	GABRG2_ENST00000393933.4_Missense_Mutation_p.Q126L|GABRG2_ENST00000356592.3_Missense_Mutation_p.Q221L|GABRG2_ENST00000414552.2_Missense_Mutation_p.Q261L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	221					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGTTTATCAATGGAAGCGA	0.388																																						uc010jjc.3																			0		p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(781-783)cAa>cTa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							107	102	103					5																	161530925		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161530925A>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.662A>T	5.37:g.161530925A>T	ENSP00000354651:p.Gln221Leu					GABRG2_uc003lyy.4_Missense_Mutation_p.Q221L|GABRG2_uc003lyz.4_Missense_Mutation_p.Q221L|GABRG2_uc011dej.2_Missense_Mutation_p.Q126L	p.Q261L	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	6	1140	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	221					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.782A>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259258	0.39995	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79554	-1.28;-1.03;-1.28;-1.28;-1.28	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101918	0.64402	D	0.000002	T	0.59676	0.2211	N	0.04787	-0.16	0.44388	D	0.99729	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.003;0.002	T	0.57136	-0.7863	10	0.11182	T	0.66	.	11.4594	0.50202	0.8653:0.0:0.0:0.1347	.	261;221;221	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	L	221;261;221;126;126	ENSP00000349000:Q221L;ENSP00000410732:Q261L;ENSP00000354651:Q221L;ENSP00000377510:Q126L;ENSP00000430182:Q126L	ENSP00000349000:Q221L	Q	+	2	0	GABRG2	161463503	0.998000	0.40836	0.991000	0.47740	0.997000	0.91878	3.322000	0.52007	2.113000	0.64589	0.533000	0.62120	CAA		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161530925	A	T	161530925	3	4	271	1	0	0	0	0	1	0	0	0	6172	130	5	5	808	5	GABRG2	5	161530925	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	20019506	161530925	19384335	42	19326											
BNIP1	662	broad.mit.edu	37	chr5	172585746	172585746	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgaaccttccaattccaGcaatcaggcctcatggagga	12	8	9	12	1	2	1	2	1	0	0	4	3	4	3	4	3	2	1	4	3	3	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:172585746G>A	ENST00000351486.5	+	4	300		c.e4-1		BNIP1_ENST00000352523.6_Intron|BNIP1_ENST00000231668.9_Splice_Site|BNIP1_ENST00000393770.4_Intron	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAATTCCAGCAATCAGGCC	0.483																																						uc003mci.4																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.e5-1		Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.							115	96	102					5																	172585746		2203	4300	6503	SO:0001630	splice_region_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172585746G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.270-1G>A	5.37:g.172585746G>A						BNIP1_uc003mcj.4_Splice_Site_p.S90_splice|BNIP1_uc003mck.4_Intron|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Splice_Site_p.S3_splice	p.S133_splice	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	503	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	90					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Splice_Site	SNP	ENST00000351486.5	37	c.399_splice	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603107	0.28534	.	.	ENSG00000113734	ENST00000231668;ENST00000351486	.	.	.	5.55	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.387	0.83514	0.0:0.132:0.868:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BNIP1	172518352	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.476000	0.97823	1.309000	0.44985	-0.175000	0.13238	.		0.483	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979	Intron	A	172585746	G	A	172585746	5	1	271	1	0	0	0	0	0	0	1	0	1476	985	34	3	416	3	BNIP1	5	172585746	Splice_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	11054821	172585746	8329514	43	19327											
CDHR2	54825	broad.mit.edu	37	chr5	176004494	176004494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggctcagcctccgttcAggtgctggtgagagtatccg	6	10	15	10	2	2	1	2	1	0	1	4	2	4	1	3	3	2	4	3	3	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:176004494A>G	ENST00000510636.1	+	13	1563	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	CDHR2_ENST00000261944.5_Missense_Mutation_p.Q430R|CDHR2_ENST00000506348.1_Missense_Mutation_p.Q430R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCGTTCAGGTGCTGGTG	0.672																																						uc021yie.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1288-1290)cAg>cGg		Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.							35	39	38					5																	176004494		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004494A>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1289A>G	5.37:g.176004494A>G	ENSP00000424565:p.Gln430Arg					CDHR2_uc003mem.2_Missense_Mutation_p.Q430R|CDHR2_uc003men.1_Missense_Mutation_p.Q430R	p.Q430R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN			12	1563	+			430			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1289A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439356	0.43326	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	4.54	4.54	0.55810	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.52468	0.1736	M	0.69248	2.105	0.50632	D	0.99988	P	0.50272	0.933	B	0.42386	0.386	T	0.60929	-0.7165	9	0.62326	D	0.03	-21.5753	12.8936	0.58087	1.0:0.0:0.0:0.0	.	430	Q9BYE9	CDHR2_HUMAN	R	430	ENSP00000424565:Q430R;ENSP00000261944:Q430R;ENSP00000421078:Q430R	ENSP00000261944:Q430R	Q	+	2	0	CDHR2	175937100	1.000000	0.71417	0.995000	0.50966	0.044000	0.14063	5.380000	0.66202	2.041000	0.60428	0.368000	0.22195	CAG		0.672	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		G	176004494	A	G	176004494	3	3	271	1	0	0	0	0	1	0	0	0	3119	188	7	4	1335	4	CDHR2	5	176004494	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	3418748	176004494	4910766	44	19328											
DSP	1832	broad.mit.edu	37	chr6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggctctatgatgctaaaCgccgccaggattccttagaa	11	10	10	10	2	1	2	0	1	1	1	2	3	2	3	3	2	2	2	3	2	5	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:7576615C>T	ENST00000379802.3	+	19	3060	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_ENST00000418664.2_Missense_Mutation_p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	907	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2719-2721)Cgc>Tgc		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							98	102	100					6																	7576615		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7576615C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2719C>T	6.37:g.7576615C>T	ENSP00000369129:p.Arg907Cys					DSP_uc003mxq.1_Missense_Mutation_p.R907C|DSP_uc021yle.1_Missense_Mutation_p.R907C	p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	18	2998	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	907			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2719C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770351	0.90108	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.36340	1.26;1.96	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.37073	0.0990	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.54706	0.543;0.759	T	0.09907	-1.0653	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	954;907	Q4LE79;P15924	.;DESP_HUMAN	C	907;907;712	ENSP00000369129:R907C;ENSP00000396591:R907C	ENSP00000369129:R907C	R	+	1	0	DSP	7521614	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.346000	0.65992	2.865000	0.98341	0.655000	0.94253	CGC		0.423	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7576615	C	T	7576615	3	4	271	1	0	0	0	0	1	0	0	0	4781	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		7576615	163538452	45	19329											
TAP2	6891	broad.mit.edu	37	chr6	32798068	32798068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggtagcagtgttcAtactgtgagatgggcttttc	7	14	13	7	0	1	1	1	1	0	1	2	2	1	1	0	2	3	5	0	2	2	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:32798068A>G	ENST00000452392.2	-	9	1784	c.1611T>C	c.(1609-1611)taT>taC	p.Y537Y	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Silent_p.Y537Y|TAP2_ENST00000374897.2_Silent_p.Y537Y			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGCAGTGTTCATACTGTGAGA	0.587																																						uc011dqf.1																			0											c.(1609-1611)taT>taC		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.							142	134	137					6																	32798068		1511	2708	4219	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32798068A>G	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1611T>C	6.37:g.32798068A>G						TAP2_uc003ocb.1_Silent_p.Y537Y|TAP2_uc003occ.3_Silent_p.Y537Y|TAP2_uc003ocd.3_Silent_p.Y537Y	p.Y537Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN			8	1733	-			537			ABC transporter.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1611T>C																																																																																					0.587	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		G	32798068	A	G	32798068	2	3	271	1	0	0	0	0	0	0	0	1	15548	224	8	4		4	TAP2	6	32798068	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08	25221453	32798068	138316999	46	19330											
TREML2	79865	broad.mit.edu	37	chr6	41166078	41166078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaccttgccctccacgcGgtttttgtagcccttatagg	7	12	8	14	2	0	0	0	0	0	0	1	0	1	0	5	2	3	2	5	2	4	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:41166078G>A	ENST00000483722.1	-	2	330	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	49	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTCCACGCGGTTTTTGTAG	0.547																																						uc010jxm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(145-147)Cgc>Tgc		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							162	172	168					6																	41166078		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166078G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.145C>T	6.37:g.41166078G>A	ENSP00000418767:p.Arg49Cys						p.R49C	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	324	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		49			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.145C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	9.788	1.177231	0.21787	.	.	ENSG00000112195	ENST00000483722	T	0.66815	-0.23	4.75	1.71	0.24356	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.508980	0.04411	N	0.366043	T	0.61763	0.2373	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	P	0.60609	0.877	T	0.36648	-0.9739	10	0.38643	T	0.18	-1.4366	5.2161	0.15344	0.1909:0.0:0.6468:0.1623	.	49	Q5T2D2	TRML2_HUMAN	C	49	ENSP00000418767:R49C	ENSP00000418767:R49C	R	-	1	0	TREML2	41274056	0.002000	0.14202	0.001000	0.08648	0.028000	0.11728	0.836000	0.27545	0.505000	0.28104	0.563000	0.77884	CGC		0.547	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166078	G	A	41166078	3	1	271	1	0	0	0	0	1	0	0	0	16470	1116	39	2	836	2	TREML2	6	41166078	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8368010	41166078	129948989	47	19331											
ABCC10	89845	broad.mit.edu	37	chr6	43417751	43417751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccccggccaccctgcgCaaccagccccactccctgtt	6	6	7	22	2	0	0	0	0	0	0	2	1	2	0	8	1	3	2	8	1	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:43417751C>T	ENST00000372530.4	+	22	4616	c.4401C>T	c.(4399-4401)cgC>cgT	p.R1467R	ABCC10_ENST00000244533.3_Silent_p.R1439R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1467	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCACCCTGCGCAACCAGCCCC	0.642																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(4399-4401)cgC>cgT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.							67	69	68					6																	43417751		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43417751C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4401C>T	6.37:g.43417751C>T						ABCC10_uc003ouz.1_Silent_p.R1439R|ABCC10_uc010jyo.1_Silent_p.R573R	p.R1467R	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		21	4616	+	all_lung(25;0.00536)		1467			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.4401C>T	CCDS56430.1																																																																																				0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43417751	C	T	43417751	2	4	271	1	0	0	0	0	0	0	0	1	50	697	25	3		3	ABCC10	6	43417751	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2251673	43417751	127697316	48	19332											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|C7orf26_ENST00000344417.5_5'Flank|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						uc003sqi.3																			2	Substitution - Missense(2)	p.R300H(4)|p.Q299*(1)	upper_aerodigestive_tract(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(898-900)cGt>cAt		Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.							122	109	113					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	p.R300H	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1257	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		A	6628405	G	A	6628405	3	1	271	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		6628405	152510258	49	19333											
CALCR	799	broad.mit.edu	37	chr7	93108737	93108737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcatccatcatcttctttCgtcctacgacgtaaagaaat	11	13	6	11	3	3	1	1	0	2	1	6	2	5	1	2	0	2	2	2	0	4	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:93108737C>T	ENST00000394441.1	-	3	449	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	CALCR_ENST00000421592.1_Missense_Mutation_p.R45Q|CALCR_ENST00000360249.4_Missense_Mutation_p.R45Q|CALCR_ENST00000359558.2_Missense_Mutation_p.R63Q|CALCR_ENST00000426151.1_Missense_Mutation_p.R45Q	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(187-189)cGa>cAa		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						246	228	234					7																	93108737		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93108737C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.134G>A	7.37:g.93108737C>T	ENSP00000377959:p.Arg45Gln					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q	p.R63Q	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	488	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		45					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.188G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176800	0.38413	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.21	2.38	0.29361	.	.	.	.	.	T	0.40498	0.1119	L	0.56769	1.78	0.09310	N	0.999999	P;B	0.35982	0.531;0.396	B;B	0.30179	0.112;0.042	T	0.22173	-1.0224	9	0.30854	T	0.27	.	4.4219	0.11484	0.0:0.5602:0.1636:0.2763	.	63;45	F5H605;A4D1G6	.;.	Q	63;45;45;45;45;45	ENSP00000352561:R63Q;ENSP00000353385:R45Q;ENSP00000399552:R45Q;ENSP00000377959:R45Q;ENSP00000389295:R45Q	ENSP00000352561:R63Q	R	-	2	0	CALCR	92946673	0.009000	0.17119	0.001000	0.08648	0.040000	0.13550	1.047000	0.30367	0.426000	0.26116	0.650000	0.86243	CGA		0.403	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		T	93108737	C	T	93108737	3	4	271	1	0	0	0	0	1	0	0	0	2579	884	31	2	1386	2	CALCR	7	93108737	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	86480332	93108737	66029926	50	19334											
RBM28	55131	broad.mit.edu	37	chr7	127979698	127979698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaactcaccatttttccccTtttcctttgtcttgttcctc	5	19	3	14	0	2	0	1	0	1	0	6	1	5	0	5	0	1	1	5	0	1	7			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:127979698T>C	ENST00000223073.2	-	2	380	c.266A>G	c.(265-267)aAg>aGg	p.K89R	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	89					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATTTTTCCCCTTTTCCTTTGT	0.443																																						uc003vmp.2																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(265-267)aAg>aGg		Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.							176	176	176					7																	127979698		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127979698T>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.266A>G	7.37:g.127979698T>C	ENSP00000223073:p.Lys89Arg					RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K36R	p.K89R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			1	381	-			89					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.266A>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.064083	0.36373	.	.	ENSG00000106344	ENST00000223073;ENST00000478061;ENST00000459726	T;T;T	0.09350	2.99;3.42;3.42	5.73	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);	0.592553	0.19280	N	0.118171	T	0.06962	0.0177	N	0.24115	0.695	0.80722	D	1	B	0.33694	0.421	B	0.25987	0.065	T	0.40627	-0.9553	10	0.25106	T	0.35	-15.273	10.9514	0.47332	0.0:0.0:0.1635:0.8365	.	89	Q9NW13	RBM28_HUMAN	R	89;89;123	ENSP00000223073:K89R;ENSP00000418071:K89R;ENSP00000420503:K123R	ENSP00000223073:K89R	K	-	2	0	RBM28	127766934	0.438000	0.25602	0.977000	0.42913	0.909000	0.53808	0.640000	0.24705	0.982000	0.38575	0.528000	0.53228	AAG		0.443	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		C	127979698	T	C	127979698	3	2	271	1	0	0	0	0	1	0	0	0	13128	1609	56	4	2085	4	RBM28	7	127979698	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	34870961	127979698	31158965	51	19335											
INTS10	55174	broad.mit.edu	37	chr8	19677962	19677962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaacaatgcttcaacaCgttagaacgatcagaaatgt	16	8	8	9	3	2	2	2	0	0	2	2	4	2	3	0	1	4	2	0	1	6	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:19677962C>T	ENST00000397977.3	+	4	772	c.374C>T	c.(373-375)aCg>aTg	p.T125M	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	125					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGCTTCAACACGTTAGAACGA	0.403																																						uc022asn.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(373-375)aCg>aTg		Homo sapiens integrator complex subunit 10 (INTS10), mRNA.							139	132	134					8																	19677962		1910	4126	6036	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677962C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.374C>T	8.37:g.19677962C>T	ENSP00000381064:p.Thr125Met					INTS10_uc003wzj.3_Missense_Mutation_p.T125M	p.T125M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	3	505	+			125					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.374C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	31	5.093404	0.94149	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78038	-0.2360	9	0.72032	D	0.01	-22.4927	18.7657	0.91871	0.0:1.0:0.0:0.0	.	125	Q9NVR2	INT10_HUMAN	M	125	.	ENSP00000381064:T125M	T	+	2	0	INTS10	19722242	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	7.316000	0.79007	2.776000	0.95493	0.655000	0.94253	ACG		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		T	19677962	C	T	19677962	3	4	271	1	0	0	0	0	1	0	0	0	7776	536	19	1	388	1	INTS10	8	19677962	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		19677962	126686060	52	19336											
SLC25A32	81034	broad.mit.edu	37	chr8	104417070	104417070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcttccttctgttttatAtgacttgatggcattgtaac	8	18	7	8	0	2	2	0	2	2	0	3	2	3	2	1	1	2	4	1	1	3	8			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:104417070A>T	ENST00000297578.4	-	3	491	c.325T>A	c.(325-327)Tat>Aat	p.Y109N	SLC25A32_ENST00000543107.1_Intron|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	109					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTGTTTTATATGACTTGATG	0.353																																						uc003yll.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(325-327)Tat>Aat		Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	Folic Acid(DB00158)						134	108	117					8																	104417070		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104417070A>T	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.325T>A	8.37:g.104417070A>T	ENSP00000297578:p.Tyr109Asn					SLC25A32_uc011lhr.2_Intron	p.Y109N	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	628	-			109					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.325T>A	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899231	0.52227	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.79033	-1.23	6.06	4.91	0.64330	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	L	0.39397	1.21	0.80722	D	1	B	0.25609	0.13	B	0.25405	0.06	T	0.64411	-0.6414	10	0.37606	T	0.19	-3.6645	12.0991	0.53772	0.9334:0.0:0.0666:0.0	.	109	Q9H2D1	MFTC_HUMAN	N	109;93	ENSP00000297578:Y109N	ENSP00000297578:Y109N	Y	-	1	0	SLC25A32	104486246	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	8.070000	0.89493	1.121000	0.41925	0.533000	0.62120	TAT		0.353	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		T	104417070	A	T	104417070	3	4	271	1	0	0	0	0	1	0	0	0	14496	449	16	5	642	5	SLC25A32	8	104417070	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	84739108	104417070	41946952	53	19337											
LOC645961	645961	broad.mit.edu	37	chr9	90745328	90745328	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggaaggagcacaacagtgGcagaaacttgaggctgggtc	12	6	15	8	0	0	2	0	1	0	1	1	4	0	4	0	5	3	3	0	5	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr9:90745328G>A								U6 (132078 upstream) : U3 (243855 downstream)																							CACAACAGTGGCAGAAACTTG	0.537																																						uc011lti.2																			0											c.(2623-2625)gCc>gTc		Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.							41	39	40					9																	90745328		692	1591	2283	SO:0001628	intergenic_variant	645961							g.chr9:90745328G>A																													9.37:g.90745328G>A						DQ587746_uc004apx.1_5'Flank	p.A875V	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN			3	2653	-			875						Missense_Mutation	SNP		37	c.2624C>T																																																																																				0	0.537									A	90745328	G	A	90745328	1	1	271	0	1	0	0	0	0	0	0	0	8883	1203	42	3		3	LOC645961	9	90745328	IGR	SNP	G	TCGA-76-6283-01A-11D-1845-08		90745328	50468103	54	19338											
GPRIN2	9721	broad.mit.edu	37	chr10	46999114	46999114	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccagcacgggcctcTggccccaaggcgcgacccag	9	3	13	16	3	1	1	0	1	1	0	1	2	1	1	5	3	2	1	5	3	2	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:46999114T>G	ENST00000374317.1	+	3	507	c.234T>G	c.(232-234)tcT>tcG	p.S78S	GPRIN2_ENST00000374314.4_Silent_p.S78S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACGGGCCTCTGGCCCCAAGG	0.706																																						uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(232-234)tcT>tcG		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.							30	38	35					10																	46999114		2198	4290	6488	SO:0001819	synonymous_variant	9721							g.chr10:46999114T>G	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.234T>G	10.37:g.46999114T>G						GPRIN2_uc021ppt.1_Silent_p.S78S	p.S78S	NM_014696	NP_055511	O60269	GRIN2_HUMAN			2	369	+			78					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.234T>G	CCDS31192.1																																																																																				0.706	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		G	46999114	T	G	46999114	2	3	271	1	0	0	0	0	0	0	0	1	6730	1567	55	5		5	GPRIN2	10	46999114	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08		46999114	88535633	55	19339											
PTEN	5728	broad.mit.edu	37	chr10	89624265	89624267	+	In_Frame_Del	DEL	AAG	AAG	-																															gagatcgttagcagaaacaaAaggagatatcaagaggatgg																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:89624265_89624267delAAG	ENST00000371953.3	+	1	1396_1398	c.39_41delAAG	c.(37-42)aaaagg>aag	p.R15del	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> S (in glioma). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.R14G(2)|p.R14fs*29(1)|p.R14M(1)|p.I8_R14>LRLICIF(1)|p.R14fs*10(1)|p.K13del(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCAGAAACAAAAGGAGATATCAA	0.488		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(3)|Deletion - In frame(2)|Deletion - Frameshift(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	p.0?(37)|p.?(13)|p.R14G(4)|p.R15I(4)|p.R15S(3)|p.R14fs*29(2)|p.R15K(2)|p.R14M(2)|p.I8_R14>LRLICIF(2)|p.R14fs*10(2)|p.R14_D22del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.R15fs*9(1)|p.K13del(1)|p.N12fs*6(1)	prostate(14)|central_nervous_system(11)|skin(7)|lung(6)|endometrium(4)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|bone(2)|breast(2)|biliary_tract(1)|vulva(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CI000626	PTEN	I		c.(37-42)aaaagg>aag		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001651	inframe_deletion	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624265_89624267delAAG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.39_41delAAG	10.37:g.89624265_89624267delAAG	ENSP00000361021:p.Arg15del	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	p.R15del	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	0	1071_1073	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	15		R -> S (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	c.39_41delAAG	CCDS31238.1																																																																																				0.488	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89624267	AAG	-	89624265	7	5	271	1	0	1	0	1	0	0	0	0	12738	11	1	0	41	0	PTEN	10	89624265	In_Frame_Del	DEL	AAG	TCGA-76-6283-01A-11D-1845-08	42625151	89624265	45910482	56	19340											
CPT1A	1374	broad.mit.edu	37	chr11	68549243	68549243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtaaggacggtacctgtCgtaacatcggccgtgtagta	11	9	13	8	4	0	0	0	0	0	0	2	1	0	1	2	4	2	5	2	4	6	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:68549243C>T	ENST00000265641.5	-	11	1502	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	CPT1A_ENST00000539743.1_Missense_Mutation_p.D450N|CPT1A_ENST00000540367.1_Missense_Mutation_p.D450N|CPT1A_ENST00000376618.2_Missense_Mutation_p.D450N	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	450					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CGGTACCTGTCGTAACATCGG	0.473																																						uc001oog.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1348-1350)Gac>Aac		Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)						309	247	268					11																	68549243		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549243C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1348G>A	11.37:g.68549243C>T	ENSP00000265641:p.Asp450Asn					CPT1A_uc001oof.4_Missense_Mutation_p.D450N	p.D450N	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		10	1518	-	Esophageal squamous(3;3.28e-14)		450					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1348G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797341	0.31777	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	N	0.13371	0.34	0.80722	D	1	B;B	0.32573	0.376;0.042	B;B	0.34931	0.192;0.026	T	0.71862	-0.4464	10	0.02654	T	1	.	19.0511	0.93046	0.0:1.0:0.0:0.0	.	450;450	P50416;P50416-2	CPT1A_HUMAN;.	N	450	ENSP00000439084:D450N;ENSP00000365803:D450N;ENSP00000265641:D450N;ENSP00000446108:D450N	ENSP00000265641:D450N	D	-	1	0	CPT1A	68305819	1.000000	0.71417	0.949000	0.38748	0.057000	0.15508	7.575000	0.82447	2.512000	0.84698	0.655000	0.94253	GAC		0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		T	68549243	C	T	68549243	3	4	271	1	0	0	0	0	1	0	0	0	3831	884	31	2	1049	2	CPT1A	11	68549243	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		68549243	66457273	57	19341											
FAT3	120114	broad.mit.edu	37	chr11	92539549	92539549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcatatacagcattacttCctgaagacattccatcaaat	14	13	4	10	0	1	2	1	1	0	1	3	2	3	2	2	0	4	2	2	0	5	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:92539549C>T	ENST00000298047.6	+	11	9132	c.9115C>T	c.(9115-9117)Cct>Tct	p.P3039S	FAT3_ENST00000409404.2_Missense_Mutation_p.P3039S|FAT3_ENST00000525166.1_Missense_Mutation_p.P2889S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3039	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCATTACTTCCTGAAGACAT	0.358										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9115-9117)Cct>Tct		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							78	72	74					11																	92539549		1843	4097	5940	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92539549C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9115C>T	11.37:g.92539549C>T	ENSP00000298047:p.Pro3039Ser	TCGA Ovarian(4;0.039)					p.P3039S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			10	9132	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3039			Cadherin 28.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9115C>T		.	.	.	.	.	.	.	.	.	.	C	17.74	3.463261	0.63513	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52983	0.64;0.64;0.64	5.84	5.84	0.93424	.	.	.	.	.	T	0.38904	0.1058	N	0.24115	0.695	0.80722	D	1	P	0.38223	0.623	B	0.37508	0.252	T	0.10636	-1.0621	9	0.28530	T	0.3	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	3039	Q8TDW7-3	.	S	3039;3039;2889	ENSP00000298047:P3039S;ENSP00000387040:P3039S;ENSP00000432586:P2889S	ENSP00000298047:P3039S	P	+	1	0	FAT3	92179197	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.384000	0.59607	2.779000	0.95612	0.655000	0.94253	CCT		0.358	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92539549	C	T	92539549	3	4	271	1	0	0	0	0	1	0	0	0	5691	855	30	3	9157	3	FAT3	11	92539549	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	23990306	92539549	42466967	58	19342											
CD163L1	283316	broad.mit.edu	37	chr12	7559424	7559424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggttagttccacctacaAgccttagttcaagatcacta	12	11	7	11	1	2	1	2	0	0	1	3	1	3	1	3	1	3	3	3	1	6	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:7559424A>G	ENST00000313599.3	-	5	848	c.791T>C	c.(790-792)cTt>cCt	p.L264P	CD163L1_ENST00000416109.2_Missense_Mutation_p.L274P|CD163L1_ENST00000396630.1_Missense_Mutation_p.L264P			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	264	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACCTACAAGCCTTAGTTC	0.448																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(820-822)cTt>cCt		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							162	149	153					12																	7559424		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559424A>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.791T>C	12.37:g.7559424A>G	ENSP00000315945:p.Leu264Pro					CD163L1_uc001qsy.3_Missense_Mutation_p.L264P	p.L274P	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			4	847	-			264			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.821T>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964343	0.53507	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.61158	0.13;0.13;0.13	1.55	1.55	0.23275	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.77745	0.4176	M	0.93462	3.42	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77930	-0.2403	9	0.66056	D	0.02	.	7.1225	0.25453	1.0:0.0:0.0:0.0	.	274;264	E7EVK4;Q9NR16	.;C163B_HUMAN	P	264;274;264	ENSP00000315945:L264P;ENSP00000393474:L274P;ENSP00000379871:L264P	ENSP00000315945:L264P	L	-	2	0	CD163L1	7450691	1.000000	0.71417	0.062000	0.19696	0.405000	0.30901	6.781000	0.75068	0.949000	0.37715	0.377000	0.23210	CTT		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		G	7559424	A	G	7559424	3	3	271	1	0	0	0	0	1	0	0	0	2968	72	3	4	3630	4	CD163L1	12	7559424	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		7559424	126292471	59	19343											
AICDA	57379	broad.mit.edu	37	chr12	8759510	8759510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggatgtagcactgtcaCgcctcttcactacgtagcac	12	9	8	12	2	3	0	2	0	1	0	3	1	3	1	1	1	3	4	1	1	5	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:8759510C>T	ENST00000229335.6	-	2	210	c.107G>A	c.(106-108)cGt>cAt	p.R36H	AICDA_ENST00000537228.1_Missense_Mutation_p.R36H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	36					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCACTGTCACGCCTCTTCAC	0.463																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(106-108)cGt>cAt		Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.							92	88	89					12																	8759510		1976	4149	6125	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8759510C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.107G>A	12.37:g.8759510C>T	ENSP00000229335:p.Arg36His					AICDA_uc001qup.1_Missense_Mutation_p.R31H|AICDA_uc001quq.1_Missense_Mutation_p.R31H|AICDA_uc009zgd.1_Non-coding_Transcript	p.R36H	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			1	186	-	Lung SC(5;0.184)		36					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.107G>A	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.650610|4.650610	0.87958|0.87958	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000229335;ENST00000537228|ENST00000543081;ENST00000544516;ENST00000545512	T;T|.	0.67698|.	-0.28;-0.28|.	5.36|5.36	5.36|5.36	0.76844|0.76844	APOBEC-like, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70430|0.70430	0.3223|0.3223	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.67688|0.67688	-0.5606|-0.5606	10|5	0.44086|.	T|.	0.13|.	-19.4192|-19.4192	17.6431|17.6431	0.88142|0.88142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;36;36|.	Q9GZX7;Q6QJ80;Q6QJ81|.	AICDA_HUMAN;.;.|.	H|M	36|35	ENSP00000229335:R36H;ENSP00000445691:R36H|.	ENSP00000229335:R36H|.	R|V	-|-	2|1	0|0	AICDA|AICDA	8650777|8650777	0.919000|0.919000	0.31177|0.31177	0.988000|0.988000	0.46212|0.46212	0.901000|0.901000	0.52897|0.52897	7.245000|7.245000	0.78237|0.78237	2.505000|2.505000	0.84491|0.84491	0.467000|0.467000	0.42956|0.42956	CGT|GTG		0.463	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8759510	C	T	8759510	3	4	271	1	0	0	0	0	1	0	0	0	422	536	19	1	505	1	AICDA	12	8759510	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1200086	8759510	125092385	60	19344											
SENP1	29843	broad.mit.edu	37	chr12	48465464	48465464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttacctgggagttggagtCtgggaatctttcactttcag	7	15	12	7	0	4	0	2	0	2	0	4	3	4	3	1	3	1	2	1	3	2	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:48465464C>T	ENST00000004980.5	-	9	1459	c.981G>A	c.(979-981)caG>caA	p.Q327Q	SENP1_ENST00000448372.1_Silent_p.Q327Q|SENP1_ENST00000549595.1_Silent_p.Q327Q|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Silent_p.Q327Q|SENP1_ENST00000549518.1_Silent_p.Q327Q			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GAGTTGGAGTCTGGGAATCTT	0.358																																						uc001rqx.3																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(979-981)caG>caA		Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.							40	38	39					12																	48465464		1798	4067	5865	SO:0001819	synonymous_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48465464C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.981G>A	12.37:g.48465464C>T						SENP1_uc001rqw.3_Silent_p.Q327Q|SENP1_uc001rqy.3_Silent_p.Q128Q|SENP1_uc001rqz.3_Silent_p.Q128Q|SENP1_uc009zkx.3_Silent_p.Q327Q	p.Q327Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			8	1427	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	327					A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	c.981G>A	CCDS44868.2																																																																																				0.358	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		T	48465464	C	T	48465464	2	4	271	1	0	0	0	0	0	0	0	1	14046	912	32	3		3	SENP1	12	48465464	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	39705954	48465464	85386431	61	19345											
DGKA	1606	broad.mit.edu	37	chr12	56336026	56336026	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactggaaatgatctggctCgatgcctaagatggggagga	11	9	15	6	1	1	2	0	1	1	1	2	6	1	5	1	5	2	2	1	5	3	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:56336026C>T	ENST00000331886.5	+	17	1859	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKA_ENST00000394147.1_Nonsense_Mutation_p.R469*|DGKA_ENST00000551156.1_Nonsense_Mutation_p.R469*|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	469	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGATCTGGCTCGATGCCTAAG	0.498																																						uc001sij.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1405-1407)Cga>Tga		Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	Vitamin E(DB00163)						216	176	190					12																	56336026		2203	4300	6503	SO:0001587	stop_gained	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56336026C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1405C>T	12.37:g.56336026C>T	ENSP00000328405:p.Arg469*					DGKA_uc001sih.1_Nonsense_Mutation_p.R357*|DGKA_uc001sii.1_Nonsense_Mutation_p.R327*|DGKA_uc009zod.1_Nonsense_Mutation_p.R388*|DGKA_uc001sik.3_Nonsense_Mutation_p.R469*|DGKA_uc001sil.3_Nonsense_Mutation_p.R469*|DGKA_uc001sim.3_Nonsense_Mutation_p.R469*|DGKA_uc001sin.3_Nonsense_Mutation_p.R469*|DGKA_uc009zof.3_Nonsense_Mutation_p.R115*|DGKA_uc001sio.3_Nonsense_Mutation_p.R211*	p.R469*	NM_001345	NP_963848	P23743	DGKA_HUMAN			16	1669	+			469			DAGKc.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Nonsense_Mutation	SNP	ENST00000331886.5	37	c.1405C>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732683	0.89482	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8066	0.88602	0.0:1.0:0.0:0.0	.	.	.	.	X	469;388;469;469;79	.	ENSP00000328405:R469X	R	+	1	2	DGKA	54622293	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	2.832000	0.48152	2.826000	0.97356	0.491000	0.48974	CGA		0.498	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			T	56336026	C	T	56336026	4	4	271	1	0	0	0	0	0	1	0	0	4465	876	31	2	1467	2	DGKA	12	56336026	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	7870562	56336026	77515869	62	19346											
SSH1	54434	broad.mit.edu	37	chr12	109194640	109194640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagactcggatgttatgaTatgcaaataagccaggaaaa	16	9	10	6	2	0	2	0	1	0	1	1	4	0	4	1	2	2	3	1	2	7	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:109194640T>C	ENST00000326495.5	-	12	1157	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	SSH1_ENST00000326470.5_Missense_Mutation_p.Y366C|SSH1_ENST00000551165.1_Missense_Mutation_p.Y355C|SSH1_ENST00000360239.3_Missense_Mutation_p.Y43C	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	355	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTTATGATATGCAAATAA	0.363																																						uc001tnm.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1063-1065)tAt>tGt		Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.							108	112	110					12																	109194640		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109194640T>C	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1064A>G	12.37:g.109194640T>C	ENSP00000315713:p.Tyr355Cys					SSH1_uc001tnl.3_Missense_Mutation_p.Y43C|SSH1_uc010sxg.2_Missense_Mutation_p.Y366C|SSH1_uc001tnn.4_Missense_Mutation_p.Y355C	p.Y355C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			11	1151	-			355			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1064A>G	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223570	0.79576	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.66280	1.03;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.91300	3.195	0.58432	D	0.999996	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;0.998;1.0;1.0	D	0.87352	0.2338	10	0.87932	D	0	-22.2681	16.3141	0.82909	0.0:0.0:0.0:1.0	.	366;355;355;43	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	C	43;355;355;366	ENSP00000353374:Y43C;ENSP00000315713:Y355C;ENSP00000448824:Y355C;ENSP00000326107:Y366C	ENSP00000326107:Y366C	Y	-	2	0	SSH1	107718769	1.000000	0.71417	0.606000	0.28943	0.829000	0.46940	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.363	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		C	109194640	T	C	109194640	3	2	271	1	0	0	0	0	1	0	0	0	15183	1406	49	4	2287	4	SSH1	12	109194640	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	52858614	109194640	24657255	63	19347											
VSIG10	54621	broad.mit.edu	37	chr12	118509166	118509166	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacccagggagtccttacctTtccagcagaacacagggcta	11	7	10	13	0	0	1	0	0	0	1	2	3	2	2	4	2	3	2	4	2	3	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:118509166T>G	ENST00000359236.5	-	6	1604	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	443						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCCTTACCTTTCCAGCAGAA	0.532																																						uc001tws.3																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1327-1329)aAa>aCa		Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.							87	92	91					12																	118509166		1879	4109	5988	SO:0001583	missense	54621					integral to membrane		g.chr12:118509166T>G		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1328A>C	12.37:g.118509166T>G	ENSP00000352172:p.Lys443Thr						p.K443T	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			5	1662	-			443					Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.1328A>C	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560035	0.45590	.	.	ENSG00000176834	ENST00000359236	T	0.55234	0.53	4.72	3.47	0.39725	.	0.000000	0.47852	D	0.000209	T	0.58524	0.2128	M	0.63428	1.95	0.32387	N	0.553801	D	0.69078	0.997	P	0.60789	0.879	T	0.61893	-0.6969	10	0.22109	T	0.4	11.99	6.6745	0.23085	0.0:0.0897:0.1578:0.7525	.	443	Q8N0Z9	VSI10_HUMAN	T	443	ENSP00000352172:K443T	ENSP00000352172:K443T	K	-	2	0	VSIG10	116993549	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.555000	0.36277	2.088000	0.63022	0.374000	0.22700	AAA		0.532	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		G	118509166	T	G	118509166	3	3	271	1	0	0	0	0	1	0	0	0	17220	1841	64	5	310	5	VSIG10	12	118509166	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	9314526	118509166	15342729	64	19348											
RB1	5925	broad.mit.edu	37	chr13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttttctttcaaggttgaaaaTctttctaaacgatacgaaga																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(946-951)aatcttfs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941638_48941641delTCTT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.948_951delTCTT	13.37:g.48941638_48941641delTCTT	ENSP00000267163:p.Asn316fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.N17fs	p.N316fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1114_1117	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	316					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.948_951delTCTT	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48941641	TCTT	-	48941638	7	5	271	1	0	1	0	1	0	0	0	0	13098	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-76-6283-01A-11D-1845-08		48941638	66228240	65	19349											
PIBF1	10464	broad.mit.edu	37	chr13	73372127	73372127	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatatcctagcagaagaatTaagtacaaacaaaaaccaac	22	6	5	8	0	0	2	0	0	0	2	1	3	1	2	2	0	5	2	2	0	11	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:73372127T>A	ENST00000326291.6	+	5	973	c.635T>A	c.(634-636)tTa>tAa	p.L212*		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	212						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCAGAAGAATTAAGTACAAAC	0.373																																						uc001vjc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(634-636)tTa>tAa		Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.							108	113	111					13																	73372127		2203	4300	6503	SO:0001587	stop_gained	10464					centrosome		g.chr13:73372127T>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.635T>A	13.37:g.73372127T>A	ENSP00000317144:p.Leu212*					PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Nonsense_Mutation_p.L212*|PIBF1_uc010aep.3_Intron	p.L212*	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	4	940	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	212					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Nonsense_Mutation	SNP	ENST00000326291.6	37	c.635T>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	T	39	7.330834	0.98217	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	.	.	.	5.31	5.31	0.75309	.	0.408397	0.23591	N	0.046556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0752	15.2716	0.73705	0.0:0.0:0.0:1.0	.	.	.	.	X	212	.	ENSP00000317144:L212X	L	+	2	0	PIBF1	72270128	0.646000	0.27295	0.857000	0.33713	0.886000	0.51366	3.692000	0.54727	2.012000	0.59069	0.528000	0.53228	TTA		0.373	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		A	73372127	T	A	73372127	4	1	271	1	0	0	0	0	0	1	0	0	11879	1764	61	5	649	5	PIBF1	13	73372127	Nonsense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	24430489	73372127	41797751	66	19350											
MIA2	117153	broad.mit.edu	37	chr14	39722420	39722420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaataattttacctattttGctaaatataagagtggctac	14	15	6	6	0	0	1	0	0	0	1	0	1	0	1	1	1	3	3	1	1	9	10			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:39722420G>T	ENST00000280082.3	+	6	2131	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TACCTATTTTGCTAAATATAA	0.289																																						uc001wux.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1930-1932)ttG>ttT		Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.							69	76	74					14																	39722420		2199	4276	6475	SO:0001583	missense	117153					extracellular region		g.chr14:39722420G>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1932G>T	14.37:g.39722420G>T	ENSP00000280082:p.Leu644Phe						p.L644F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	5	2126	+	Hepatocellular(127;0.213)		0					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.1932G>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	9.610	1.130924	0.21041	.	.	ENSG00000150526	ENST00000280082	T	0.51325	0.71	4.29	-3.09	0.05331	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.23018	0.043	T	0.19386	-1.0307	7	.	.	.	.	3.6176	0.08083	0.2719:0.0:0.2763:0.4518	.	644	Q96PC5-2	.	F	644	ENSP00000280082:L644F	.	L	+	3	2	MIA2	38792171	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.647000	0.05397	-0.676000	0.05238	-0.312000	0.09012	TTG		0.289	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		T	39722420	G	T	39722420	3	4	271	1	0	0	0	0	1	0	0	0	9564	1310	46	5	1954	5	MIA2	14	39722420	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		39722420	67627120	67	19351											
FLVCR2	55640	broad.mit.edu	37	chr14	76107379	76107379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagaaggcatctcctcCggcctcctcaacatatctgc	10	9	7	15	1	4	1	2	0	2	1	7	2	6	1	4	2	2	1	4	2	4	1	rs573951578		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:76107379C>T	ENST00000238667.4	+	7	1673	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.S154S|FLVCR2_ENST00000539311.1_Silent_p.S234S	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	439				S -> F (in Ref. 3; BAA91126). {ECO:0000305}.	heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATCTCCTCCGGCCTCCTCA	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		21751	0		0	False		,,,				2504	0					uc001xrs.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1315-1317)tcC>tcT		Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.							128	113	118					14																	76107379		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107379C>T	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1317C>T	14.37:g.76107379C>T						FLVCR2_uc010tvd.1_Silent_p.S234S	p.S439S	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	6	1693	+			439	S -> F (in Ref. 3; BAA91126).				B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1317C>T	CCDS9844.1																																																																																				0.502	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		T	76107379	C	T	76107379	2	4	271	1	0	0	0	0	0	0	0	1	5946	639	23	2		2	FLVCR2	14	76107379	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	36384959	76107379	31242161	68	19352											
SPTBN5	51332	broad.mit.edu	37	chr15	42148626	42148626	+	Frame_Shift_Del	DEL	A	A	-																															tcctgagcctgctgcagcagAagccgcctccgcgccgcctc																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:42148626delA	ENST00000320955.6	-	53	9206	c.8979delT	c.(8977-8979)cttfs	p.L2995fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2995					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGCAGCAGAAGCCGCCTCC	0.697																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(8872-8874)cttfs		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							10	14	13					15																	42148626		2030	4165	6195	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42148626delA	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8979delT	15.37:g.42148626delA	ENSP00000317790:p.Leu2995fs						p.L2958fs	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	52	9207	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2993						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.8874delT																																																																																					0.697	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		-	42148626	A	-	42148626	7	5	271	1	0	1	0	1	0	0	0	0	15121	233	9	0	2109	0	SPTBN5	15	42148626	Frame_Shift_Del	DEL	A	TCGA-76-6283-01A-11D-1845-08		42148626	60382766	69	19353											
ZSCAN29	146050	broad.mit.edu	37	chr15	43661801	43661801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccttctcaccgaagatCtaggtcttccaggctctctt	6	13	6	16	1	4	1	1	0	4	1	8	2	6	1	4	2	0	1	4	2	2	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:43661801C>G	ENST00000396976.2	-	1	445	c.311G>C	c.(310-312)aGa>aCa	p.R104T	TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R103T|TUBGCP4_ENST00000570081.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R104T|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R103T|ZSCAN29_ENST00000563508.1_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	104			R -> G (in dbSNP:rs3809482). {ECO:0000269|PubMed:14702039}.		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCGAAGATCTAGGTCTTCC	0.468																																						uc001zrk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(310-312)aGa>aCa		Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.							95	105	102					15																	43661801		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43661801C>G	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.311G>C	15.37:g.43661801C>G	ENSP00000380174:p.Arg104Thr					ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R103T|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R103T|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	p.R104T	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	0	458	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	104		R -> G (in dbSNP:rs3809482).			B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.311G>C	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478507	0.26511	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.04234	3.67;3.67	4.79	3.86	0.44501	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.138436	0.33161	N	0.005210	T	0.08044	0.0201	M	0.77820	2.39	0.80722	D	1	B;B;B;B	0.27140	0.007;0.169;0.14;0.001	B;B;B;B	0.34346	0.011;0.18;0.113;0.001	T	0.08848	-1.0702	10	0.28530	T	0.3	-9.2469	5.5106	0.16878	0.1993:0.7017:0.0:0.099	.	104;103;104;104	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	T	104	ENSP00000380174:R104T;ENSP00000380170:R104T	ENSP00000380170:R104T	R	-	2	0	ZSCAN29	41449093	0.700000	0.27796	0.986000	0.45419	0.838000	0.47535	0.681000	0.25320	2.632000	0.89209	0.655000	0.94253	AGA		0.468	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		G	43661801	C	G	43661801	3	3	271	1	0	0	0	0	1	0	0	0	18233	913	32	5	2267	5	ZSCAN29	15	43661801	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1513175	43661801	58869591	70	19354											
ONECUT1	3175	broad.mit.edu	37	chr15	53081863	53081863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggctgtgctcaggggcCcggtggtggtggtggtaatc	4	9	19	9	1	1	0	1	0	0	0	2	0	1	0	2	8	1	3	2	8	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:53081863C>T	ENST00000305901.5	-	1	346	c.219G>A	c.(217-219)cgG>cgA	p.R73R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	73					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCTCAGGGGCCCGGTGGTGGT	0.711																																						uc002aci.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(217-219)cgG>cgA		Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.							22	22	22					15																	53081863		2190	4288	6478	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081863C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.219G>A	15.37:g.53081863C>T							p.R73R	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	0	347	-			73					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.219G>A	CCDS10150.1																																																																																				0.711	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			T	53081863	C	T	53081863	2	4	271	1	0	0	0	0	0	0	0	1	10868	610	22	3		3	ONECUT1	15	53081863	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	9420062	53081863	49449529	71	19355											
TCF12	6938	broad.mit.edu	37	chr15	57565229	57565244	+	Splice_Site	DEL	AGTACTAATGAAGATG	AGTACTAATGAAGATG	-																															ttgttactttattttctagcAgtactaatgaagatgaggat																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:57565229_57565244delAGTACTAATGAAGATG	ENST00000267811.5	+	18	1979_1994	c.1675_1690delAGTACTAATGAAGATG	c.(1675-1692)agtactaatgaagatgag>ag	p.STNEDE559fs	TCF12_ENST00000333725.5_Splice_Site_p.STNEDE583fs|TCF12_ENST00000559703.1_Splice_Site_p.KY**R*216fs|TCF12_ENST00000343827.3_Splice_Site_p.STNEDE389fs|TCF12_ENST00000557843.1_Splice_Site_p.STNEDE559fs|TCF12_ENST00000438423.2_Splice_Site_p.STNEDE583fs|TCF12_ENST00000537840.1_Splice_Site_p.STNEDE323fs|TCF12_ENST00000559710.1_Splice_Site_p.STNEDE193fs|TCF12_ENST00000452095.2_Splice_Site_p.STNEDE579fs|TCF12_ENST00000543579.1_Splice_Site_p.STNEDE413fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	559					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATTTTCTAGCAGTACTAATGAAGATGAGGATTTGAA	0.384			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1675-1692)agtactaatgaagatgagfs		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.																																				SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565229_57565244delAGTACTAATGAAGATG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1674-1AGTACTAATGAAGATG>-	15.37:g.57565229_57565244delAGTACTAATGAAGATG						TCF12_uc010ugm.1_Frame_Shift_Del_p.S611fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S579fs|TCF12_uc002aea.3_Frame_Shift_Del_p.S583fs|TCF12_uc010bfs.3_5'UTR|TCF12_uc002aeb.3_Frame_Shift_Del_p.S583fs|TCF12_uc002aed.3_Frame_Shift_Del_p.S559fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.S323fs|TCF12_uc002aee.3_Frame_Shift_Del_p.S389fs|TCF12_uc010bft.3_Frame_Shift_Del_p.S413fs|TCF12_uc010ugp.2_Splice_Site_p.S216_splice|TCF12_uc010ugq.2_Frame_Shift_Del_p.S193fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.S172fs	p.S559fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1959_1974	+		Colorectal(260;0.0907)	559					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.1675_1690delAGTACTAATGAAGATG	CCDS10159.1																																																																																				0.384	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Frame_Shift_Del	-	57565244	AGTACTAATGAAGATG	-	57565229	8	5	271	1	0	1	0	1	0	0	1	0	15684	202	7	0	1890	0	TCF12	15	57565229	Splice_Site	DEL	AGTACTAATGAAGATG	TCGA-76-6283-01A-11D-1845-08	4483366	57565229	44966163	72	19356											
ZNF592	9640	broad.mit.edu	37	chr15	85326217	85326217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagatctgcctccagatcCccacaactgtgggaaatttg	10	10	8	13	0	2	2	1	0	1	2	4	3	4	3	4	1	2	0	4	1	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85326217C>A	ENST00000560079.2	+	4	599	c.311C>A	c.(310-312)cCc>cAc	p.P104H	ZNF592_ENST00000299927.3_Missense_Mutation_p.P104H	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	104					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCAGATCCCCACAACTGT	0.512																																						uc002bld.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(310-312)cCc>cAc		Homo sapiens zinc finger protein 592 (ZNF592), mRNA.							59	61	60					15																	85326217		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326217C>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.311C>A	15.37:g.85326217C>A	ENSP00000452877:p.Pro104His					ZNF592_uc010upb.2_Non-coding_Transcript	p.P104H	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		3	647	+			104					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.311C>A	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047394	0.75846	.	.	ENSG00000166716	ENST00000299927	T	0.00623	6.15	6.06	6.06	0.98353	.	0.311390	0.40222	N	0.001152	T	0.01124	0.0037	N	0.19112	0.55	0.41106	D	0.985705	P	0.48503	0.911	P	0.49752	0.621	T	0.79596	-0.1738	10	0.66056	D	0.02	-8.0711	18.1147	0.89549	0.0:1.0:0.0:0.0	.	104	Q92610	ZN592_HUMAN	H	104	ENSP00000299927:P104H	ENSP00000299927:P104H	P	+	2	0	ZNF592	83127221	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	7.346000	0.79347	2.882000	0.98803	0.655000	0.94253	CCC		0.512	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		A	85326217	C	A	85326217	3	1	271	1	0	0	0	0	1	0	0	0	18019	623	22	5	313	5	ZNF592	15	85326217	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	27760988	85326217	17205175	73	19357											
SLC28A1	9154	broad.mit.edu	37	chr15	85478601	85478601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttgatgggtgtggCgtgggaggactgcccagtgg	5	10	18	8	1	1	1	0	1	1	0	1	3	1	3	2	5	2	0	2	5	0	2	rs116070802		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85478601C>T	ENST00000286749.3	+	14	1523	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A478V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A478V|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A478V|SLC28A1_ENST00000538177.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	478					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ATGGGTGTGGCGTGGGAGGAC	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		21054	0		0	False		,,,				2504	0					uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1432-1434)gCg>gTg		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.		C	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	114	92	99		1433	2	0.9	15	dbSNP_132	99	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLC28A1	NM_004213.3	64	0,7,6495	TT,TC,CC		0.0116,0.1362,0.0538	benign	478/650	85478601	7,12997	2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478601C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1433C>T	15.37:g.85478601C>T	ENSP00000286749:p.Ala478Val					SLC28A1_uc010bnb.3_Missense_Mutation_p.A478V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A478V|SLC28A1_uc010upg.1_Missense_Mutation_p.A478V	p.A478V	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		14	1635	+			478					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1433C>T	CCDS10334.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.318	0.616397	0.14129	0.001362	1.16E-4	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.12	1.96	0.26148	Na dependent nucleoside transporter, C-terminal (1);	0.538676	0.21238	N	0.077872	T	0.09113	0.0225	M	0.68952	2.095	0.58432	D	0.999999	B;B;B	0.14012	0.009;0.001;0.003	B;B;B	0.10450	0.005;0.005;0.005	T	0.10428	-1.0630	10	0.38643	T	0.18	-4.7113	5.121	0.14860	0.2507:0.5491:0.1227:0.0775	.	478;478;478	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	478	ENSP00000440546:A478V;ENSP00000444700:A478V;ENSP00000286749:A478V;ENSP00000378074:A478V	ENSP00000286749:A478V	A	+	2	0	SLC28A1	83279605	0.995000	0.38212	0.900000	0.35374	0.154000	0.21943	1.485000	0.35519	0.316000	0.23135	-1.521000	0.00933	GCG		0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85478601	C	T	85478601	3	4	271	1	0	0	0	0	1	0	0	0	14531	768	27	1	1554	1	SLC28A1	15	85478601	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	152384	85478601	17052791	74	19358											
CRTC3	64784	broad.mit.edu	37	chr15	91184403	91184403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccgtattccaactgCgggagtctcccgaacaccat	10	7	8	16	3	1	0	0	0	1	0	3	2	2	1	5	1	4	1	5	1	4	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:91184403C>T	ENST00000268184.6	+	14	1627	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.C541C			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	541					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATTCCAACTGCGGGAGTCTCC	0.507			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.3				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1621-1623)tgC>tgT		Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.							94	77	83					15																	91184403		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91184403C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1623C>T	15.37:g.91184403C>T						CRTC3_uc002bpo.3_Silent_p.C541C	p.C541C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		13	1729	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		541					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.1623C>T	CCDS32331.1																																																																																				0.507	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		T	91184403	C	T	91184403	2	4	271	1	0	0	0	0	0	0	0	1	3901	776	27	1		1	CRTC3	15	91184403	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	5705802	91184403	11346989	75	19359											
WDR90	197335	broad.mit.edu	37	chr16	711897	711897	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatactttgccaggtgcgtCgagagccagtcccagaggca	9	8	12	12	2	1	2	1	0	0	2	3	3	2	2	3	2	4	1	3	2	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:711897C>T	ENST00000293879.4	+	32	3871	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	WDR90_ENST00000549091.1_Nonsense_Mutation_p.R1291*			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1291										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGCGTCGAGAGCCAGT	0.637																																						uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3871-3873)Cga>Tga		Homo sapiens WD repeat domain 90 (WDR90), mRNA.							84	107	99					16																	711897		2067	4213	6280	SO:0001587	stop_gained	197335							g.chr16:711897C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3871C>T	16.37:g.711897C>T	ENSP00000293879:p.Arg1291*					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.R818*|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Nonsense_Mutation_p.R465*|WDR90_uc002cin.1_5'UTR	p.R1291*	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			31	3925	+		Hepatocellular(780;0.0218)	1291					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Nonsense_Mutation	SNP	ENST00000293879.4	37	c.3871C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	41	8.773581	0.98948	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	.	.	.	5.45	0.846	0.18955	.	0.154081	0.39544	U	0.001339	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3416	0.21327	0.3861:0.4522:0.0:0.1617	.	.	.	.	X	1291	.	ENSP00000293879:R1291X	R	+	1	2	WDR90	651898	0.014000	0.17966	0.000000	0.03702	0.009000	0.06853	0.622000	0.24433	0.263000	0.21812	0.561000	0.74099	CGA		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	711897	C	T	711897	4	4	271	1	0	0	0	0	0	1	0	0	17334	876	31	2	3997	2	WDR90	16	711897	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		711897	89642856	76	19360											
MLST8	64223	broad.mit.edu	37	chr16	2256621	2256621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggccgctggatgtacaCgggcggcgaggactgcacag	9	4	17	11	5	0	1	0	0	0	1	0	4	0	3	1	5	2	3	1	5	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2256621C>T	ENST00000569417.1	+	4	659	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MLST8_ENST00000565250.1_Missense_Mutation_p.T102M|MLST8_ENST00000301725.7_Missense_Mutation_p.T121M|MLST8_ENST00000301724.10_Missense_Mutation_p.T102M|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Missense_Mutation_p.T101M|MLST8_ENST00000564088.1_Missense_Mutation_p.T102M|MLST8_ENST00000397124.1_Missense_Mutation_p.T102M|AC009065.3_ENST00000517149.1_RNA	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	102					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						TGGATGTACACGGGCGGCGAG	0.632																																						uc002coy.3																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(304-306)aCg>aTg		Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.							108	113	111					16																	2256621		2016	4180	6196	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256621C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.305C>T	16.37:g.2256621C>T	ENSP00000456405:p.Thr102Met					MLST8_uc002cpc.3_Missense_Mutation_p.T102M|MLST8_uc010uvx.2_Missense_Mutation_p.T36M|MLST8_uc002cpd.3_Missense_Mutation_p.T36M|MLST8_uc002cpb.3_Missense_Mutation_p.T101M|MLST8_uc002coz.3_Missense_Mutation_p.T102M|MLST8_uc002cpe.3_Missense_Mutation_p.T102M|MLST8_uc010uvy.2_Missense_Mutation_p.T102M|MLST8_uc002cpf.3_Missense_Mutation_p.T102M|MLST8_uc002cph.3_Non-coding_Transcript	p.T102M	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			3	696	+			102					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.305C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777517	0.90195	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.68181	-0.31;-0.31;-0.31	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87881	0.6289	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;P;D;D	0.79784	0.993;0.855;0.966;0.991	D	0.92177	0.5748	10	0.87932	D	0	-19.1623	16.7681	0.85528	0.0:1.0:0.0:0.0	.	102;121;36;102	B4E2R3;Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;.;LST8_HUMAN	M	102;102;102;121	ENSP00000301724:T102M;ENSP00000380313:T102M;ENSP00000301725:T121M	ENSP00000301724:T102M	T	+	2	0	MLST8	2196622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.909000	0.69923	2.298000	0.77334	0.561000	0.74099	ACG		0.632	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		T	2256621	C	T	2256621	3	4	271	1	0	0	0	0	1	0	0	0	9634	536	19	1	315	1	MLST8	16	2256621	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1544724	2256621	88098132	77	19361											
CCNF	899	broad.mit.edu	37	chr16	2506722	2506722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacccaaacccctggtcCgcaccagccgggagccaggg	8	3	13	17	2	0	0	0	0	0	0	1	2	1	2	7	4	3	1	7	4	1	0	rs527471283	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2506722C>T	ENST00000397066.4	+	17	2150	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	688	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCCCTGGTCCGCACCAGCCG	0.662													C|||	4	0.000798722	0	0	5008	,	,		19828	0.004		0	False		,,,				2504	0					uc002cqd.1																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(2062-2064)Cgc>Tgc		Homo sapiens cyclin F (CCNF), mRNA.							59	57	58					16																	2506722		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506722C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2062C>T	16.37:g.2506722C>T	ENSP00000380256:p.Arg688Cys					CCNF_uc002cqe.1_Missense_Mutation_p.R380C	p.R688C	NM_001761	NP_001752	P41002	CCNF_HUMAN			16	2150	+		Ovarian(90;0.17)	688			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.2062C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586488	0.28268	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.21932	1.98	5.08	-5.95	0.02241	.	1.890110	0.01858	N	0.036400	T	0.06872	0.0175	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.36615	T	0.2	-1.1167	14.4355	0.67277	0.0:0.7304:0.0:0.2696	.	688	P41002	CCNF_HUMAN	C	688;603	ENSP00000380256:R688C	ENSP00000293968:R603C	R	+	1	0	CCNF	2446723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.264000	0.01173	-1.065000	0.03168	-2.715000	0.00133	CGC		0.662	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		T	2506722	C	T	2506722	3	4	271	1	0	0	0	0	1	0	0	0	2922	652	23	2	2128	2	CCNF	16	2506722	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	250101	2506722	87848031	78	19362											
GOT2	2806	broad.mit.edu	37	chr16	58752174	58752174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggattgtgggcgcaggcatGcagaagaagaacactctgct	11	7	15	8	1	1	3	0	0	1	3	1	4	1	4	0	3	3	4	0	3	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:58752174G>A	ENST00000245206.5	-	6	756	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	GOT2_ENST00000434819.2_Missense_Mutation_p.H167Y|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	210					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GCGCAGGCATGCAGAAGAAGA	0.498																																						uc002eof.1																			0		p.H210R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(628-630)Cat>Tat		Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						100	92	95					16																	58752174		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58752174G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.628C>T	16.37:g.58752174G>A	ENSP00000245206:p.His210Tyr					GOT2_uc010vim.1_Missense_Mutation_p.H167Y	p.H210Y	NM_002080	NP_002071	P00505	AATM_HUMAN			5	742	-			210					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.628C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212089	0.95069	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.91407	-2.84;-2.84	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98732	1.0713	9	.	.	.	0.4913	18.8967	0.92426	0.0:0.0:1.0:0.0	.	167;210	E7ERW2;P00505	.;AATM_HUMAN	Y	210;167	ENSP00000245206:H210Y;ENSP00000394100:H167Y	.	H	-	1	0	GOT2	57309675	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	9.684000	0.98659	2.723000	0.93209	0.561000	0.74099	CAT		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			A	58752174	G	A	58752174	3	1	271	1	0	0	0	0	1	0	0	0	6581	1319	46	3	684	3	GOT2	16	58752174	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	56245452	58752174	31602579	79	19363											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486640	76486640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcgaatctctaccagccagGaaaattacccagtgacatca	14	8	7	12	1	2	1	1	1	1	0	4	3	2	2	3	1	3	0	3	1	5	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:76486640G>A	ENST00000476707.1	+	7	1455	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G435E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G363E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G387E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	436	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428																																						uc002fex.1																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1315-1317)gGa>gAa		Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.							37	38	38					16																	76486640		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486640G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1316G>A	16.37:g.76486640G>A	ENSP00000417628:p.Gly439Glu					CNTNAP4_uc002feu.1_Missense_Mutation_p.G435E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E	p.G439E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			6	1455	+			436			Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1316G>A		.	.	.	.	.	.	.	.	.	.	G	19.93	3.917377	0.73098	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.43	5.43	0.79202	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.181513	0.26442	N	0.024344	D	0.90577	0.7046	.	.	.	0.53688	D	0.999976	B;B;B;P	0.47409	0.163;0.238;0.238;0.895	B;B;B;P	0.55455	0.33;0.445;0.314;0.776	D	0.90285	0.4318	9	0.54805	T	0.06	.	19.4288	0.94756	0.0:0.0:1.0:0.0	.	363;439;411;436	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	E	435;387;363;439	ENSP00000306893:G435E;ENSP00000439733:G387E;ENSP00000418741:G363E;ENSP00000417628:G439E	ENSP00000306893:G435E	G	+	2	0	CNTNAP4	75044141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.182000	0.65059	2.829000	0.97493	0.655000	0.94253	GGA		0.428	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76486640	G	A	76486640	3	1	271	1	0	0	0	0	1	0	0	0	3649	1174	41	3	1350	3	CNTNAP4	16	76486640	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	17734466	76486640	13868113	80	19364											
ZC3H18	124245	broad.mit.edu	37	chr16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtggaaggacccttggCgccgatccaagtctcccaag	10	7	12	12	2	1	1	0	1	1	0	3	4	2	3	4	3	0	0	4	3	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:88688687C>T	ENST00000301011.5	+	9	1758	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R544C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	520						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602																																					Ovarian(121;375 2276 20373 38669)	uc010voz.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1630-1632)Cgc>Tgc		Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.							54	56	56					16																	88688687		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688687C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1558C>T	16.37:g.88688687C>T	ENSP00000301011:p.Arg520Cys					ZC3H18_uc002fky.3_Missense_Mutation_p.R520C|ZC3H18_uc010chw.3_Non-coding_Transcript	p.R544C	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1830	+			520			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1630C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951073	0.73787	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.54279	0.58;0.58	5.83	5.83	0.93111	.	0.160950	0.64402	D	0.000020	T	0.47154	0.1430	L	0.45581	1.43	0.80722	D	1	P;P	0.38110	0.618;0.618	B;B	0.29440	0.102;0.102	T	0.51092	-0.8749	10	0.56958	D	0.05	-17.7083	19.7135	0.96105	0.0:1.0:0.0:0.0	.	544;520	E7ERS3;Q86VM9	.;ZCH18_HUMAN	C	520;488;544	ENSP00000301011:R520C;ENSP00000416951:R544C	ENSP00000289509:R488C	R	+	1	0	ZC3H18	87216188	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.386000	0.59620	2.769000	0.95229	0.655000	0.94253	CGC		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88688687	C	T	88688687	3	4	271	1	0	0	0	0	1	0	0	0	17565	768	27	1	1588	1	ZC3H18	16	88688687	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	12202047	88688687	1666066	81	19365											
PITPNM3	83394	broad.mit.edu	37	chr17	6376097	6376097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggcagaggggtctgCgcaatggaagaagctgtaga	11	6	17	7	2	1	4	0	1	1	3	1	5	1	5	1	4	2	4	1	4	4	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:6376097C>T	ENST00000262483.8	-	11	1396	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.A401T	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	437	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGGGGTCTGCGCAATGGAAG	0.632																																						uc002gdd.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36						c.(1309-1311)Gca>Aca		Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.							60	59	60					17																	6376097		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6376097C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1309G>A	17.37:g.6376097C>T	ENSP00000262483:p.Ala437Thr					PITPNM3_uc010cln.3_Missense_Mutation_p.A401T|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Missense_Mutation_p.A28T	p.A437T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	10	1460	-			437			DDHD.		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1309G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751647	0.69533	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.44482	0.94;0.92	5.09	5.09	0.68999	DDHD (2);	0.059124	0.64402	D	0.000002	T	0.39279	0.1072	N	0.13098	0.295	0.52099	D	0.999948	P;D	0.71674	0.764;0.998	B;P	0.59424	0.181;0.857	T	0.08953	-1.0697	10	0.06625	T	0.88	.	16.3484	0.83171	0.0:1.0:0.0:0.0	.	401;437	F8WEW5;Q9BZ71	.;PITM3_HUMAN	T	437;401	ENSP00000262483:A437T;ENSP00000407882:A401T	ENSP00000262483:A437T	A	-	1	0	PITPNM3	6316821	1.000000	0.71417	0.983000	0.44433	0.973000	0.67179	4.793000	0.62474	2.516000	0.84829	0.561000	0.74099	GCA		0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		T	6376097	C	T	6376097	3	4	271	1	0	0	0	0	1	0	0	0	11952	768	27	1	1655	1	PITPNM3	17	6376097	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		6376097	74819113	82	19366											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2	rs587782144		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM994513	TP53	M		c.(472-474)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49	51	50					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578457	C	T	7578457	3	4	271	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1202360	7578457	73616753	83	19367											
MED13	9969	broad.mit.edu	37	chr17	60072508	60072512	+	Splice_Site	DEL	CTTAC	CTTAC	-																															tttggtgtactgtgatttctCttaccttgtgtttttttcca																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:60072508_60072512delCTTAC	ENST00000397786.2	-	10	2258		c.e10+1			NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGATTTCTCTTACCTTGTGTTTT	0.346																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.e10+1		Homo sapiens mediator complex subunit 13 (MED13), mRNA.																																				SO:0001630	splice_region_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60072508_60072512delCTTAC	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2181+1GTAAG>-	17.37:g.60072508_60072512delCTTAC							p.K727_splice	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			10	2258	-			727					B2RU05|O60334	Splice_Site	DEL	ENST00000397786.2	37	c.2181_splice	CCDS42366.1																																																																																				0.346	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Intron	-	60072512	CTTAC	-	60072508	8	5	271	1	0	1	0	1	0	0	1	0	9430	928	32	0		0	MED13	17	60072508	Splice_Site	DEL	CTTAC	TCGA-76-6283-01A-11D-1845-08	52494051	60072508	21122702	84	19368											
FSCN2	25794	broad.mit.edu	37	chr17	79503762	79503762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagctggacaccaaccgctCcgtctacgacgtcttccacc	8	7	7	19	4	2	0	0	0	2	0	4	2	4	1	6	1	3	2	6	1	2	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:79503762C>T	ENST00000417245.2	+	4	1356	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	FSCN2_ENST00000334850.7_Missense_Mutation_p.S431F	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	407					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCAACCGCTCCGTCTACGAC	0.701																																						uc010wuo.2																			0				endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(1291-1293)tCc>tTc		Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.							17	22	20					17																	79503762		2127	4229	6356	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79503762C>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1220C>T	17.37:g.79503762C>T	ENSP00000388716:p.Ser407Phe					FSCN2_uc010wup.2_Missense_Mutation_p.S407F	p.S431F	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1433	+	all_neural(118;0.0878)|Melanoma(429;0.242)		407					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.1292C>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592430	0.86953	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.46819	0.86;1.38	3.94	2.95	0.34219	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.74647	2.275	0.80722	D	1	P;D	0.89917	0.704;1.0	B;D	0.87578	0.149;0.998	T	0.68618	-0.5361	10	0.72032	D	0.01	-4.1242	10.4862	0.44724	0.0:0.9002:0.0:0.0998	.	407;431	O14926;A8MRA6	FSCN2_HUMAN;.	F	407;431	ENSP00000388716:S407F;ENSP00000334665:S431F	ENSP00000334665:S431F	S	+	2	0	FSCN2	77114238	1.000000	0.71417	0.872000	0.34217	0.969000	0.65631	5.509000	0.67012	1.714000	0.51371	0.484000	0.47621	TCC		0.701	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79503762	C	T	79503762	3	4	271	1	0	0	0	0	1	0	0	0	6068	855	30	3	1145	3	FSCN2	17	79503762	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	19431254	79503762	1691448	85	19369											
LAMA3	3909	broad.mit.edu	37	chr18	21441699	21441699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacagtatggtggcGgatctccaggagctgcccgc	8	6	15	12	2	1	0	0	0	1	0	2	2	1	2	2	5	4	4	2	5	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr18:21441699G>A	ENST00000313654.9	+	35	4753	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	LAMA3_ENST00000399516.3_Silent_p.A1504A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1504	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTATGGTGGCGGATCTCCAGG	0.587																																						uc002kuq.3																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4510-4512)gcG>gcA		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42	45	44					18																	21441699		2033	4192	6225	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21441699G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4512G>A	18.37:g.21441699G>A						LAMA3_uc002kur.3_Silent_p.A1504A	p.A1504A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			34	4598	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1504			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.4512G>A	CCDS42419.1																																																																																				0.587	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21441699	G	A	21441699	2	1	271	1	0	0	0	0	0	0	0	1	8607	1103	39	2		2	LAMA3	18	21441699	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		21441699	56635549	86	19370											
DPP9	91039	broad.mit.edu	37	chr19	4704202	4704202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgctggcctggaagaGgaagaggccactctcgctgt	7	9	15	10	1	1	2	0	0	1	2	2	4	1	4	2	4	1	4	2	4	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:4704202G>A	ENST00000598800.1	-	7	959	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	DPP9_ENST00000594671.1_Missense_Mutation_p.L152F|DPP9_ENST00000262960.9_Missense_Mutation_p.L181F|DPP9_ENST00000597849.1_Missense_Mutation_p.L181F			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	152						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCTGGAAGAGGAAGAGGCCA	0.657																																						uc002mba.3																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(541-543)Ctc>Ttc		Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.							47	58	54					19																	4704202		2051	4193	6244	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704202G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.454C>T	19.37:g.4704202G>A	ENSP00000469603:p.Leu152Phe						p.L181F	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	5	799	-		Hepatocellular(1079;0.137)	152					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860326	0.51482	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.38401	1.14	4.5	3.45	0.39498	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.065030	0.64402	D	0.000006	T	0.63450	0.2512	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.992;0.998	T	0.70978	-0.4725	10	0.87932	D	0	-36.165	13.1753	0.59624	0.0:0.0:0.8397:0.1603	.	152;181	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	F	260;122;181	ENSP00000262960:L181F	ENSP00000262960:L181F	L	-	1	0	DPP9	4655202	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	6.387000	0.73191	1.104000	0.41587	0.561000	0.74099	CTC		0.657	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			A	4704202	G	A	4704202	3	1	271	1	0	0	0	0	1	0	0	0	4733	1000	35	3	2205	3	DPP9	19	4704202	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		4704202	54424781	87	19371											
VAV1	7409	broad.mit.edu	37	chr19	6828671	6828671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggtcaagcgagacaaCgagacactgcgacagatcac	16	3	11	11	4	2	3	2	0	0	3	2	7	2	3	0	1	4	0	0	1	3	0	rs61750002		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:6828671C>T	ENST00000602142.1	+	12	1213	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VAV1_ENST00000539284.1_Silent_p.N280N|VAV1_ENST00000599806.1_Silent_p.N322N|VAV1_ENST00000304076.2_Silent_p.N377N|VAV1_ENST00000596764.1_Silent_p.N345N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	377					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCGAGACAACGAGACACTGC	0.637																																						uc002mfu.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1129-1131)aaC>aaT		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							133	132	133					19																	6828671		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828671C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1131C>T	19.37:g.6828671C>T						VAV1_uc010xjh.1_Silent_p.N345N|VAV1_uc010dva.1_Silent_p.N377N|VAV1_uc002mfv.1_Silent_p.N322N	p.N377N	NM_005428	NP_005419	P15498	VAV_HUMAN			11	1228	+			377					B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1131C>T	CCDS12174.1																																																																																				0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6828671	C	T	6828671	2	4	271	1	0	0	0	0	0	0	0	1	17128	535	19	1		1	VAV1	19	6828671	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2124469	6828671	52300312	88	19372											
IL12RB1	3594	broad.mit.edu	37	chr19	18174730	18174730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagacacccctcagccacGctgtgtctgctcgcacctgc	6	8	8	19	2	2	1	1	0	1	1	4	1	3	1	5	0	3	3	5	0	0	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:18174730G>A	ENST00000600835.2	-	14	1872	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	IL12RB1_ENST00000593993.2_Missense_Mutation_p.A525V			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	525	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGCCACGCTGTGTCTGC	0.632																																						uc002nhx.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1693-1695)gCg>gTg		Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.							33	37	35					19																	18174730		2082	4220	6302	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18174730G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1574C>T	19.37:g.18174730G>A	ENSP00000470788:p.Ala525Val					IL12RB1_uc002nhw.1_Missense_Mutation_p.A525V|IL12RB1_uc010xqb.1_Missense_Mutation_p.A525V	p.A565V	NM_005535	NP_005526	P42701	I12R1_HUMAN			13	1745	-			525					A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1694C>T	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916046	0.52546	.	.	ENSG00000096996	ENST00000430026	T	0.56103	0.48	3.21	-3.05	0.05396	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.782500	0.11031	N	0.607226	T	0.58850	0.2151	M	0.66939	2.045	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65773	0.898;0.938	T	0.50448	-0.8827	10	0.37606	T	0.19	-13.3869	3.4787	0.07594	0.4458:0.0:0.3741:0.18	.	525;525	P42701-2;P42701	.;I12R1_HUMAN	V	525	ENSP00000403103:A525V	ENSP00000403103:A525V	A	-	2	0	IL12RB1	18035730	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.177000	0.09796	-0.495000	0.06659	-0.424000	0.05967	GCG		0.632	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18174730	G	A	18174730	3	1	271	1	0	0	0	0	1	0	0	0	7626	1087	38	1	434	1	IL12RB1	19	18174730	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	11346059	18174730	40954253	89	19373											
IGFL3	388555	broad.mit.edu	37	chr19	46627409	46627409	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcctgagccaacaggAgcgtctgggggcagacattg	10	6	14	11	1	1	2	0	1	1	1	2	3	2	3	2	3	3	1	2	3	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:46627409A>T	ENST00000341415.2	-	3	108	c.84T>A	c.(82-84)gcT>gcA	p.A28A	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	28						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGCCAACAGGAGCGTCTGGGG	0.507																																						uc002pea.1																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(82-84)gcT>gcA		Homo sapiens IGF-like family member 3 (IGFL3), mRNA.							77	73	74					19																	46627409		2185	4300	6485	SO:0001819	synonymous_variant	388555					extracellular region	protein binding	g.chr19:46627409A>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.84T>A	19.37:g.46627409A>T							p.A28A	NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	2	109	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	28						Silent	SNP	ENST00000341415.2	37	c.84T>A	CCDS33058.1																																																																																				0.507	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		T	46627409	A	T	46627409	2	4	271	1	0	0	0	0	0	0	0	1	7588	291	11	5		5	IGFL3	19	46627409	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08	28452679	46627409	12501574	90	19374											
SULT2B1	6820	broad.mit.edu	37	chr19	49090651	49090651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcatgagctcccatcttcCcatccagatcttcaccaagg	9	10	5	17	0	4	2	2	1	2	1	7	2	7	2	5	1	1	1	5	1	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:49090651C>T	ENST00000201586.2	+	3	558	c.380C>T	c.(379-381)cCc>cTc	p.P127L	SULT2B1_ENST00000323090.4_Missense_Mutation_p.P112L	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCCATCTTCCCATCCAGATC	0.612																																						uc002pjl.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(379-381)cCc>cTc		Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.							98	87	90					19																	49090651		2203	4300	6503	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49090651C>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.380C>T	19.37:g.49090651C>T	ENSP00000201586:p.Pro127Leu					SULT2B1_uc002pjm.3_Missense_Mutation_p.P112L	p.P127L	NM_177973	NP_814444	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	2	461	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	127					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.380C>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286856	0.59867	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.85171	-1.95;-1.95	4.88	4.88	0.63580	Sulfotransferase domain (1);	0.132791	0.32175	N	0.006478	D	0.93304	0.7866	M	0.89353	3.025	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94475	0.7688	10	0.87932	D	0	.	15.8803	0.79197	0.0:1.0:0.0:0.0	.	112;127	O00204-2;O00204	.;ST2B1_HUMAN	L	127;112	ENSP00000201586:P127L;ENSP00000312880:P112L	ENSP00000201586:P127L	P	+	2	0	SULT2B1	53782463	1.000000	0.71417	0.996000	0.52242	0.300000	0.27592	5.151000	0.64875	2.429000	0.82318	0.579000	0.79373	CCC		0.612	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		T	49090651	C	T	49090651	3	4	271	1	0	0	0	0	1	0	0	0	15379	623	22	3	416	3	SULT2B1	19	49090651	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2463242	49090651	10038332	91	19375											
KLK9	284366	broad.mit.edu	37	chr19	51509764	51509764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgagacactgcatgcctGgggagacacaggtctggctg	10	7	15	9	0	1	3	0	1	1	3	1	5	1	3	1	4	2	2	1	4	0	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51509764G>A	ENST00000594211.1	-	3	416	c.416C>T	c.(415-417)cCa>cTa	p.P139L	KLK9_ENST00000376832.4_Missense_Mutation_p.P139L|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_Missense_Mutation_p.P139L			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGCATGCCTGGGGAGACACA	0.602																																						uc002pux.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(415-417)cCa>cTa		Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.							43	40	41					19																	51509764		2203	4297	6500	SO:0001583	missense	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51509764G>A	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"Kallikreins"	6370	protein-coding gene	gene with protein product		605504	"kallikrein 9"			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.416C>T	19.37:g.51509764G>A	ENSP00000469417:p.Pro139Leu					KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P110L|KLK8_uc002puv.1_5'Flank	p.P139L	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	2	503	-		all_neural(266;0.0652)	139			Peptidase S1.		Q6QA55	Missense_Mutation	SNP	ENST00000594211.1	37	c.416C>T	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.200512	0.38905	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.88586	-2.4;-2.4	4.12	2.73	0.32206	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.77631	0.4159	N	0.12920	0.275	0.38269	D	0.942108	B;B	0.27068	0.167;0.167	B;B	0.30572	0.117;0.117	T	0.70048	-0.4979	9	0.33940	T	0.23	.	6.0757	0.19913	0.1953:0.0:0.8047:0.0	.	139;139	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	L	139	ENSP00000366028:P139L;ENSP00000250366:P139L	ENSP00000250366:P139L	P	-	2	0	KLK9	56201576	0.209000	0.23505	0.889000	0.34880	0.907000	0.53573	3.371000	0.52379	0.737000	0.32582	0.457000	0.33378	CCA		0.602	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315		A	51509764	G	A	51509764	3	1	271	1	0	0	0	0	1	0	0	0	8411	1348	47	3	348	3	KLK9	19	51509764	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	2419113	51509764	7619219	92	19376											
SIGLEC8	27181	broad.mit.edu	37	chr19	51957534	51957534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcccccacgcccgctGctggccttgccgatttcttc	3	12	8	18	3	1	0	0	0	1	0	3	1	2	0	5	1	2	3	5	1	1	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51957534G>T	ENST00000321424.3	-	6	1250	c.1184C>A	c.(1183-1185)gCa>gAa	p.A395E	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A302E|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.A286E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	395					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACGCCCGCTGCTGGCCTTGC	0.602																																						uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1183-1185)gCa>gAa		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.							110	102	104					19																	51957534		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957534G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1184C>A	19.37:g.51957534G>T	ENSP00000321077:p.Ala395Glu					SIGLEC8_uc010yda.2_Missense_Mutation_p.A286E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.A302E	p.A395E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	1251	-		all_neural(266;0.0199)	395					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1184C>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	8.706	0.910948	0.17833	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.64991	1.25;-0.13;0.98	1.91	-0.661	0.11417	.	.	.	.	.	T	0.70928	0.3280	M	0.81802	2.56	0.09310	N	1	D;D;B	0.71674	0.998;0.988;0.126	P;P;B	0.61722	0.893;0.844;0.035	T	0.58451	-0.7634	9	0.48119	T	0.1	.	3.9338	0.09298	0.0:0.27:0.455:0.275	.	286;302;395	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	286;395;302	ENSP00000389142:A286E;ENSP00000321077:A395E;ENSP00000339448:A302E	ENSP00000321077:A395E	A	-	2	0	SIGLEC8	56649346	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.329000	0.02677	-0.070000	0.12908	0.502000	0.49764	GCA		0.602	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		T	51957534	G	T	51957534	3	4	271	1	0	0	0	0	1	0	0	0	14314	1319	46	5	323	5	SIGLEC8	19	51957534	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	447770	51957534	7171449	93	19377											
ZNF845	91664	broad.mit.edu	37	chr19	53854579	53854579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaaaatctttccaatgTaatgagagtggcaaagcctt	16	10	9	6	0	1	2	0	1	1	2	2	4	2	2	2	1	1	2	2	1	5	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:53854579T>C	ENST00000595091.1	+	5	870	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZNF845_ENST00000458035.1_Silent_p.C217C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCCAATGTAATGAGAGTG	0.353																																						uc010ydv.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(649-651)tgT>tgC		Homo sapiens zinc finger protein 845 (ZNF845), mRNA.							68	54	58					19																	53854579		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854579T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.651T>C	19.37:g.53854579T>C						ZNF845_uc010ydw.1_Silent_p.C217C	p.C217C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			3	768	+			217						Silent	SNP	ENST00000595091.1	37	c.651T>C	CCDS46170.1																																																																																				0.353	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		C	53854579	T	C	53854579	2	2	271	1	0	0	0	0	0	0	0	1	18188	1644	57	4		4	ZNF845	19	53854579	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	1897045	53854579	5274404	94	19378											
NLRP9	338321	broad.mit.edu	37	chr19	56241342	56241342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagctcccgccagtagaCgagcttctcattgtaactat	11	10	8	12	2	1	1	1	0	1	1	3	2	2	1	2	0	3	5	2	0	4	5	rs200243299		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:56241342C>T	ENST00000332836.2	-	3	1876	c.1849G>A	c.(1849-1851)Gtc>Atc	p.V617I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	617						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGCCAGTAGACGAGCTTCTCA	0.418																																						uc002qly.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1849-1851)Gtc>Atc		Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.		C	ILE/VAL	0,4406		0,0,2203	71	74	73		1849	-6.8	0	19		73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NLRP9	NM_176820.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	617/992	56241342	3,13003	2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56241342C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1849G>A	19.37:g.56241342C>T	ENSP00000331857:p.Val617Ile						p.V617I	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1877	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	617					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1849G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	c	0.175	-1.067857	0.01934	0.0	3.49E-4	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52754	0.65	3.4	-6.8	0.01709	.	.	.	.	.	T	0.20251	0.0487	N	0.11789	0.175	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.11421	-1.0588	9	0.30854	T	0.27	.	2.3841	0.04361	0.1605:0.4208:0.2285:0.1902	.	617	Q7RTR0	NALP9_HUMAN	I	617	ENSP00000331857:V617I	ENSP00000331857:V617I	V	-	1	0	NLRP9	60933154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.279000	0.01159	-2.053000	0.00901	-1.196000	0.01674	GTC		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		T	56241342	C	T	56241342	3	4	271	1	0	0	0	0	1	0	0	0	10484	536	19	1	1154	1	NLRP9	19	56241342	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2386763	56241342	2887641	95	19379											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	8	7	11	15	4	0	1	0	1	0	0	2	3	1	1	4	1	3	1	4	1	2	2	rs141167641	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0	0	5008	,	,		19301	0		0.001	False		,,,				2504	0.0031					uc002xwo.3																			1	Substitution - Missense(1)	p.A222T(2)|p.A222V(1)	ovary(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(664-666)Gcg>Acg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							57	52	53					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr					TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	p.A222T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51870661	G	A	51870661	3	1	271	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		51870661	11154859	96	19380											
PCK1	5105	broad.mit.edu	37	chr20	56137157	56137157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgaccccagggatgtGgccaggatcgaaagcaagac	12	5	12	12	1	1	2	1	1	0	1	2	5	1	4	3	3	1	1	3	3	2	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:56137157G>A	ENST00000319441.4	+	3	419	c.255G>A	c.(253-255)gtG>gtA	p.V85V	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	85					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGGGATGTGGCCAGGATCG	0.572																																						uc002xyn.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(253-255)gtG>gtA		Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.							90	78	82					20																	56137157		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137157G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.255G>A	20.37:g.56137157G>A						PCK1_uc010zzm.2_Intron	p.V85V	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		2	418	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		85					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.255G>A	CCDS13460.1																																																																																				0.572	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56137157	G	A	56137157	2	1	271	1	0	0	0	0	0	0	0	1	11581	1335	47	3		3	PCK1	20	56137157	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	4266496	56137157	6888363	97	19381											
SYCP2	10388	broad.mit.edu	37	chr20	58467201	58467201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttcctatatatcagCgattcttcaattgtcttatt	9	21	3	8	1	5	0	2	0	3	0	6	1	6	0	1	0	1	0	1	0	6	11			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:58467201C>T	ENST00000357552.3	-	24	2433	c.2208G>A	c.(2206-2208)tcG>tcA	p.S736S	SYCP2_ENST00000371001.2_Silent_p.S736S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	736					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATCAGCGATTCTTCAA	0.348																																						uc002yaz.3																			0		p.S736L(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2206-2208)tcG>tcA		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							111	112	112					20																	58467201		2201	4300	6501	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467201C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2208G>A	20.37:g.58467201C>T							p.S736S	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		22	2347	-	all_lung(29;0.00344)		736					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.2208G>A	CCDS13482.1																																																																																				0.348	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58467201	C	T	58467201	2	4	271	1	0	0	0	0	0	0	0	1	15429	755	27	1		1	SYCP2	20	58467201	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2330044	58467201	4558319	98	19382											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692021	31692021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatacctctgtggtctacaGgatactggaaggcaggaact	12	9	11	9	0	2	0	0	0	2	0	2	3	2	3	1	5	4	1	1	5	5	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr21:31692021G>A	ENST00000360542.3	-	1	586	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	111						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGTCTACAGGATACTGGAA	0.547																																						uc002ynw.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(331-333)tcC>tcT		Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.							114	117	116					21																	31692021		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692021G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.333C>T	21.37:g.31692021G>A							p.S111S	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			0	587	-			111					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.333C>T	CCDS13588.1																																																																																				0.547	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		A	31692021	G	A	31692021	2	1	271	1	0	0	0	0	0	0	0	1	8543	987	35	3		3	KRTAP26-1	21	31692021	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		31692021	16437874	99	19383											
BPIL2	254240	broad.mit.edu	37	chr22	32828374	32828374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacgaagtccatggaaaCgatggtttcaactgtggagt	12	11	11	7	2	1	0	1	0	0	0	2	4	2	2	1	3	3	1	1	3	4	2	rs370577187	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr22:32828374C>T	ENST00000397452.1	-	11	1245	c.1135G>A	c.(1135-1137)Gtt>Att	p.V379I	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.V379I|BPIFC_ENST00000534972.1_Missense_Mutation_p.V103I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	379						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TCCATGGAAACGATGGTTTCA	0.512													C|||	2	0.000399361	0	0	5008	,	,		19575	0		0	False		,,,				2504	0.002					uc003amn.2																			0											c.(1135-1137)Gtt>Att		Homo sapiens BPI fold containing family C (BPIFC), mRNA.		C	ILE/VAL	0,4406		0,0,2203	197	177	184		1135	3.7	1	22		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFC	NM_174932.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	379/508	32828374	1,13005	2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828374C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1135G>A	22.37:g.32828374C>T	ENSP00000380594:p.Val379Ile					BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Missense_Mutation_p.V103I	p.V379I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			9	1135	-			379					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1135G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998085	0.54147	0.0	1.16E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.07800	3.16;3.16;3.16	5.86	3.65	0.41850	.	0.117701	0.56097	D	0.000024	T	0.13543	0.0328	M	0.81802	2.56	0.28894	N	0.893687	D	0.54397	0.966	P	0.45506	0.483	T	0.09773	-1.0659	10	0.24483	T	0.36	-17.7348	9.2459	0.37525	0.1534:0.5499:0.2967:0.0	.	379	Q8NFQ6	BPIFC_HUMAN	I	379;379;103	ENSP00000380594:V379I;ENSP00000300399:V379I;ENSP00000439123:V103I	ENSP00000300399:V379I	V	-	1	0	BPIFC	31158374	0.828000	0.29307	0.994000	0.49952	0.980000	0.70556	0.691000	0.25467	1.486000	0.48398	0.650000	0.86243	GTT		0.512	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		T	32828374	C	T	32828374	3	4	271	1	0	0	0	0	1	0	0	0	1492	536	19	1	412	1	BPIL2	22	32828374	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		32828374	18476192	100	19384											
KAL1	3730	broad.mit.edu	37	chrX	8555862	8555862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtctgccagtgagtggcGtcatcttcgctaggatggat	7	12	13	9	2	3	1	1	1	2	0	4	3	3	3	1	3	1	1	1	3	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:8555862G>A	ENST00000262648.3	-	5	848	c.699C>T	c.(697-699)gaC>gaT	p.D233D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	233	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTGAGTGGCGTCATCTTCGC	0.423																																						uc004csf.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(697-699)gaC>gaT		Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.							79	60	66					X																	8555862		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8555862G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.699C>T	X.37:g.8555862G>A							p.D233D	NM_000216	NP_000207	P23352	KALM_HUMAN			4	849	-			233			Fibronectin type-III 1.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.699C>T	CCDS14130.1																																																																																				0.423	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		A	8555862	G	A	8555862	2	1	271	1	0	0	0	0	0	0	0	1	7974	1136	40	1		1	KAL1	23	8555862	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		8555862	146714698	101	19385											
ARHGEF9	23229	broad.mit.edu	37	chrX	62875413	62875413	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattttcctctcttctcTgaaagccctgagccagcgta	8	13	6	14	1	2	2	0	2	2	0	5	2	3	2	4	0	4	1	4	0	3	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:62875413T>C	ENST00000253401.6	-	8	2061	c.1261A>G	c.(1261-1263)Aga>Gga	p.R421G	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R419G|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R400G|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R319G|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R148G|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R368G	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCTCTTCTCTGAAAGCCCTG	0.413																																						uc004dvl.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1261-1263)Aga>Gga		Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.							205	176	186					X																	62875413		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62875413T>C	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1261A>G	X.37:g.62875413T>C	ENSP00000253401:p.Arg421Gly					ARHGEF9_uc011mos.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R239G|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R319G|ARHGEF9_uc011mot.2_Missense_Mutation_p.R368G|ARHGEF9_uc004dvn.3_Missense_Mutation_p.R428G	p.R421G	NM_015185	NP_001166951	O43307	ARHG9_HUMAN			7	2100	-			421			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1261A>G	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984158	0.35036	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;D;T	0.88586	-1.01;-1.01;-1.01;-1.01;-2.4;-1.01	5.54	4.34	0.51931	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.111649	0.64402	D	0.000007	T	0.79650	0.4482	N	0.19112	0.55	0.41541	D	0.988515	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.005;0.003;0.003	T	0.70128	-0.4957	10	0.28530	T	0.3	.	9.8589	0.41103	0.0:0.0:0.3268:0.6731	.	368;419;421;421	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	G	421;419;368;319;148;400	ENSP00000253401:R421G;ENSP00000364012:R419G;ENSP00000399994:R368G;ENSP00000364004:R319G;ENSP00000404478:R148G;ENSP00000364006:R400G	ENSP00000253401:R421G	R	-	1	2	ARHGEF9	62792138	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.493000	0.45320	0.713000	0.32060	0.356000	0.21956	AGA		0.413	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			C	62875413	T	C	62875413	3	2	271	1	0	0	0	0	1	0	0	0	912	1588	55	4	301	4	ARHGEF9	23	62875413	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	54319551	62875413	92395147	102	19386											
LAS1L	81887	broad.mit.edu	37	chrX	64749656	64749656	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttgatcctcttcctctAtcccttccctgaactcctcc	4	15	2	20	0	3	2	0	2	3	0	9	2	9	2	7	0	1	0	7	0	2	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:64749656A>T	ENST00000374811.3	-	5	657	c.617T>A	c.(616-618)aTa>aAa	p.I206K	LAS1L_ENST00000374804.5_Missense_Mutation_p.I164K|LAS1L_ENST00000312391.8_Missense_Mutation_p.I206K|LAS1L_ENST00000374807.5_Missense_Mutation_p.I206K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	206					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCTTCCTCTATCCCTTCCCT	0.488																																						uc004dwa.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(616-618)aTa>aAa		Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.							208	178	188					X																	64749656		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64749656A>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.617T>A	X.37:g.64749656A>T	ENSP00000363944:p.Ile206Lys					LAS1L_uc004dwc.2_Missense_Mutation_p.I206K|LAS1L_uc004dwd.2_Missense_Mutation_p.I164K	p.I206K	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			4	708	-			206					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.617T>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	A	0.915	-0.717652	0.03182	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.76	1.45	0.22620	.	0.811706	0.10969	N	0.614087	T	0.26629	0.0651	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23990	0.065;0.095;0.039	B;B;B	0.21917	0.025;0.037;0.011	T	0.21655	-1.0239	9	0.29301	T	0.29	.	7.7363	0.28817	0.4425:0.0:0.5575:0.0	.	164;206;206	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	K	206;206;164;206	.	ENSP00000308649:I206K	I	-	2	0	LAS1L	64666381	0.018000	0.18449	0.066000	0.19879	0.051000	0.14879	-0.115000	0.10741	0.197000	0.20387	-0.287000	0.09952	ATA		0.488	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		T	64749656	A	T	64749656	3	4	271	1	0	0	0	0	1	0	0	0	8636	449	16	5	1627	5	LAS1L	23	64749656	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	1874243	64749656	90520904	103	19387											
MED12	9968	broad.mit.edu	37	chrX	70357763	70357763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcaccagcaggcccccaCctatggacatggactgacct	9	7	10	15	0	0	1	0	1	0	0	0	3	0	3	5	3	2	2	5	3	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:70357763C>A	ENST00000374080.3	+	41	6046	c.6014C>A	c.(6013-6015)aCc>aAc	p.T2005N	MED12_ENST00000333646.6_Missense_Mutation_p.T2008N|MED12_ENST00000374102.1_Missense_Mutation_p.T2004N			Q93074	MED12_HUMAN	mediator complex subunit 12	2005	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGGCCCCCACCTATGGACAT	0.547			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6013-6015)aCc>aAc		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							56	56	56					X																	70357763		2073	4167	6240	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70357763C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6014C>A	X.37:g.70357763C>A	ENSP00000363193:p.Thr2005Asn					MED12_uc011mpq.1_Missense_Mutation_p.T1980N|MED12_uc004dyz.3_Missense_Mutation_p.T2004N|MED12_uc004dza.3_Missense_Mutation_p.T1855N|MED12_uc010nla.3_Missense_Mutation_p.T634N	p.T2005N	NM_005120	NP_005111	Q93074	MED12_HUMAN			40	6213	+	Renal(35;0.156)		2005			Gln-rich.|Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.6014C>A	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.60|12.60	1.985947|1.985947	0.35036|0.35036	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000444034|ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.|D;D;D;T;T	.|0.84298	.|-1.83;-1.83;-1.83;2.19;2.19	5.0|5.0	4.08|4.08	0.47627|0.47627	.|Mediator complex, subunit Med12, catenin-binding (1);	.|0.409612	.|0.26680	.|N	.|0.023060	T|T	0.69788|0.69788	0.3150|0.3150	N|N	0.08118|0.08118	0|0	0.30706|0.30706	N|N	0.749805|0.749805	.|B;B;B;B	.|0.23128	.|0.065;0.08;0.034;0.042	.|B;B;B;B	.|0.28709	.|0.022;0.093;0.027;0.046	T|T	0.63563|0.63563	-0.6609|-0.6609	5|10	.|0.16420	.|T	.|0.52	-6.2223|-6.2223	11.5472|11.5472	0.50700|0.50700	0.0:0.5131:0.4869:0.0|0.0:0.5131:0.4869:0.0	.|.	.|1980;1855;2004;2005	.|F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.|.;.;.;MED12_HUMAN	T|N	201|2008;1980;2004;2005;1955;753	.|ENSP00000333125:T2008N;ENSP00000363215:T2004N;ENSP00000363193:T2005N;ENSP00000414203:T1955N;ENSP00000408388:T753N	.|ENSP00000333125:T2008N	P|T	+|+	1|2	0|0	MED12|MED12	70274488|70274488	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	2.381000|2.381000	0.44336|0.44336	2.250000|2.250000	0.74265|0.74265	0.529000|0.529000	0.55759|0.55759	CCT|ACC		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70357763	C	A	70357763	3	1	271	1	0	0	0	0	1	0	0	0	9428	507	18	5	6176	5	MED12	23	70357763	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5608107	70357763	84912797	104	19388											
TBX22	50945	broad.mit.edu	37	chrX	79282236	79282236	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcataagtacaaacccCgagtgcacgtgatagagcaa	15	6	9	11	2	0	2	0	1	0	1	0	3	0	2	3	0	5	4	3	0	5	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:79282236C>A	ENST00000373294.5	+	5	695	c.667C>A	c.(667-669)Cga>Aga	p.R223R	TBX22_ENST00000373291.1_Silent_p.R103R|TBX22_ENST00000373296.3_Silent_p.R223R|TBX22_ENST00000442340.1_Silent_p.R103R	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	223					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R223*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTACAAACCCCGAGTGCACGT	0.453																																						uc010nmg.1																			1	Substitution - Nonsense(1)	p.R223*(2)|p.P222H(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65	GRCh37	CD013205	TBX22	D		c.(667-669)Cga>Aga		Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.							158	128	138					X																	79282236		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282236C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.667C>A	X.37:g.79282236C>A						TBX22_uc004edi.1_Silent_p.R103R|TBX22_uc004edj.1_Silent_p.R223R	p.R223R	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN			5	801	+			223					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.667C>A	CCDS14445.1																																																																																				0.453	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		A	79282236	C	A	79282236	2	1	271	1	0	0	0	0	0	0	0	1	15655	644	23	5		5	TBX22	23	79282236	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	8924473	79282236	75988324	105	19389											
KLHL4	56062	broad.mit.edu	37	chrX	86890583	86890583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatatgctattggtggacGtgatggaagttcctgcctca	9	14	11	7	1	1	1	1	1	0	0	2	3	2	3	2	3	2	2	2	3	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:86890583G>A	ENST00000373119.4	+	9	1878	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	KLHL4_ENST00000373114.4_Missense_Mutation_p.R578H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	578						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGTGGACGTGATGGAAGT	0.393																																						uc004efa.2																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1732-1734)cGt>cAt		Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.							109	92	98					X																	86890583		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890583G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1733G>A	X.37:g.86890583G>A	ENSP00000362211:p.Arg578His					KLHL4_uc004efb.2_Missense_Mutation_p.R578H	p.R578H	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN			8	1915	+			578					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1733G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978893	0.74360	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79033	-1.23;-1.23	4.44	3.58	0.41010	Galactose oxidase, beta-propeller (1);	0.127317	0.53938	D	0.000058	T	0.75845	0.3905	N	0.16790	0.44	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	T	0.71394	-0.4606	10	0.23891	T	0.37	.	10.8468	0.46746	0.0949:0.0:0.9051:0.0	.	578;578	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	578	ENSP00000362211:R578H;ENSP00000362206:R578H	ENSP00000362206:R578H	R	+	2	0	KLHL4	86777239	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.896000	0.92521	0.988000	0.38734	0.513000	0.50165	CGT		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			A	86890583	G	A	86890583	3	1	271	1	0	0	0	0	1	0	0	0	8391	1145	40	1	1767	1	KLHL4	23	86890583	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	7608347	86890583	68379977	106	19390											
PCDH11X	27328	broad.mit.edu	37	chrX	91133806	91133806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagaattctgaatgggctaCcccaaacccagaaaacaggc	15	5	9	12	0	1	3	0	1	1	2	1	3	1	3	3	2	3	2	3	2	6	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:91133806C>T	ENST00000373094.1	+	2	3412	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I	PCDH11X_ENST00000361724.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T856I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T856I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T856I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T856I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	856					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATGGGCTACCCCAAACCCA	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2566-2568)aCc>aTc		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							65	60	62					X																	91133806		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133806C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2567C>T	X.37:g.91133806C>T	ENSP00000362186:p.Thr856Ile					PCDH11X_uc004efl.2_Missense_Mutation_p.T856I|PCDH11X_uc010nmv.2_Missense_Mutation_p.T856I|PCDH11X_uc004efm.2_Missense_Mutation_p.T856I|PCDH11X_uc004efn.2_Missense_Mutation_p.T856I|PCDH11X_uc004efo.2_Missense_Mutation_p.T856I|PCDH11X_uc004efh.2_Missense_Mutation_p.T856I|PCDH11X_uc004efj.1_Missense_Mutation_p.T856I	p.T856I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	3412	+			856					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2567C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358552	0.24598	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.16	4.3	0.51218	Protocadherin (1);	0.121499	0.56097	N	0.000027	T	0.50411	0.1614	M	0.71581	2.175	0.34995	D	0.75542	D;D;D;D;D;D;D;D	0.67145	0.987;0.996;0.996;0.996;0.996;0.996;0.987;0.987	P;D;D;D;D;D;P;P	0.68621	0.886;0.931;0.931;0.931;0.931;0.959;0.886;0.886	T	0.61088	-0.7133	10	0.33141	T	0.24	.	11.9575	0.52988	0.0:0.914:0.0:0.086	.	856;856;856;856;856;856;856;856	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	856	ENSP00000378746:T856I;ENSP00000362186:T856I;ENSP00000362189:T856I;ENSP00000355040:T856I;ENSP00000362180:T856I;ENSP00000423762:T856I;ENSP00000355105:T856I;ENSP00000384758:T856I;ENSP00000298274:T856I	ENSP00000298274:T856I	T	+	2	0	PCDH11X	91020462	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	5.519000	0.67074	0.951000	0.37770	-0.192000	0.12808	ACC		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91133806	C	T	91133806	3	4	271	1	0	0	0	0	1	0	0	0	11508	507	18	3	2573	3	PCDH11X	23	91133806	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	4243223	91133806	64136754	107	19391											
TAF7L	54457	broad.mit.edu	37	chrX	100541563	100541563	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggatattaactacttacGcaataagtcaatttttagtt	15	16	5	5	1	1	0	1	0	0	0	1	1	1	1	0	1	3	2	0	1	9	9	rs149116664		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:100541563G>A	ENST00000372907.3	-	3	414	c.403C>T	c.(403-405)Cct>Tct	p.P135S	Y_RNA_ENST00000410271.1_RNA|TAF7L_ENST00000372905.2_Splice_Site_p.P49S|TAF7L_ENST00000324762.6_Splice_Site_p.P49S|TAF7L_ENST00000356784.1_Splice_Site_p.P49S	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	135					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTACTTACGCAATAAGTCA	0.333													G|||	1	0.000264901	8e-04	0	3775	,	,		16459	0		0	False		,,,				2504	0				Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.e3+1		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.		G	SER/PRO,SER/PRO	4,3831		0,4,1628,571	102	77	85		145,403	-3.6	0	X	dbSNP_134	85	0,6727		0,0,2428,1871	yes	missense-near-splice,missense-near-splice	TAF7L	NM_001168474.1,NM_024885.3	74,74	0,4,4056,2442	AA,AG,GG,G		0.0,0.1043,0.0379	benign,benign	49/377,135/463	100541563	4,10558	2203	4299	6502	SO:0001630	splice_region_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100541563G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.403+1C>T	X.37:g.100541563G>A						TAF7L_uc004eha.3_Splice_Site_p.P49_splice|TAF7L_uc004ehc.2_Splice_Site_p.P49_splice	p.P135_splice	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			3	429	-			135					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.403_splice	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	1.671	-0.508935	0.04231	0.001043	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.21191	3.56;2.02;2.02;3.56	5.7	-3.63	0.04529	TAFII55 protein, conserved region (1);	0.717962	0.12085	N	0.500917	T	0.10121	0.0248	N	0.21448	0.665	0.24286	N	0.995182	B;B	0.28512	0.214;0.093	B;B	0.17433	0.018;0.005	T	0.23297	-1.0192	9	.	.	.	-1.325	7.8872	0.29656	0.4451:0.2205:0.3344:0.0	.	135;49	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	S	135;49;49;49	ENSP00000361998:P135S;ENSP00000361996:P49S;ENSP00000320283:P49S;ENSP00000349235:P49S	.	P	-	1	0	TAF7L	100428219	0.300000	0.24435	0.001000	0.08648	0.020000	0.10135	-0.248000	0.08854	-1.626000	0.01552	-0.322000	0.08575	CCT		0.333	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		Missense_Mutation	A	100541563	G	A	100541563	5	1	271	1	0	0	0	0	0	0	1	0	15530	1101	38	1	1029	1	TAF7L	23	100541563	Splice_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	9407757	100541563	54728997	108	19392											
ACSL4	2182	broad.mit.edu	37	chrX	108924259	108924259	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatcccaactcttctactGattgcatgctgtgaatctca	10	14	6	11	0	3	3	1	2	3	1	5	3	4	3	1	0	4	2	1	0	4	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:108924259G>T	ENST00000469796.2	-	6	1142	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.S208*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.S249*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	249					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTCTTCTACTGATTGCATGCT	0.333																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(745-747)tCa>tAa		Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	Icosapent(DB00159)|Troglitazone(DB00197)						137	122	127					X																	108924259		2203	4300	6503	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108924259G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.746C>A	X.37:g.108924259G>T	ENSP00000419171:p.Ser249*					ACSL4_uc004eoj.2_Nonsense_Mutation_p.S208*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S208*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S249*	p.S249*	NM_022977	NP_004449	O60488	ACSL4_HUMAN			6	1251	-			249					D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.746C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	41	8.767187	0.98945	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.95	5.95	0.96441	.	0.430804	0.25238	N	0.032115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-11.2175	19.2627	0.93974	0.0:0.0:1.0:0.0	.	.	.	.	X	208;249;249	.	ENSP00000339787:S249X	S	-	2	0	ACSL4	108810915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.245000	0.65405	2.501000	0.84356	0.513000	0.50165	TCA		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		T	108924259	G	T	108924259	4	4	271	1	0	0	0	0	0	1	0	0	179	1294	45	5	1433	5	ACSL4	23	108924259	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8382696	108924259	46346301	109	19393											
UPF3B	65109	broad.mit.edu	37	chrX	118975081	118975084	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															aatttgtccctttctggaatTctgtctatcttctttagctt																								rs142862074	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:118975081_118975084delTCTG	ENST00000276201.2	-	7	831_834	c.762_765delCAGA	c.(760-765)gacagafs	p.DR254fs	UPF3B_ENST00000345865.2_Frame_Shift_Del_p.DR254fs|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	254	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R255K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTGGAATTCTGTCTATCTTCT	0.328																																						uc004erz.2																			1	Substitution - Missense(1)	p.R255K(2)	ovary(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(760-765)gacagafs		Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118975081_118975084delTCTG	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.762_765delCAGA	X.37:g.118975081_118975084delTCTG	ENSP00000276201:p.Asp254fs					UPF3B_uc004esa.2_Frame_Shift_Del_p.D254fs	p.D254fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			6	862_865	-			254			Necessary for interaction with UPF2.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Frame_Shift_Del	DEL	ENST00000276201.2	37	c.762_765delCAGA	CCDS14588.1																																																																																				0.328	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			-	118975084	TCTG	-	118975081	7	5	271	1	0	1	0	1	0	0	0	0	17003	1780	62	0	706	0	UPF3B	23	118975081	Frame_Shift_Del	DEL	TCTG	TCGA-76-6283-01A-11D-1845-08	10050822	118975081	36295479	110	19394											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685564	125685564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccctctcgagaacacaggGgccggatgttctgctggtcc	7	8	12	14	2	2	1	0	0	2	1	4	3	3	2	3	4	2	2	3	4	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:125685564G>A	ENST00000371126.1	-	1	1270	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	343										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAACACAGGGGCCGGATGTT	0.602																																						uc022cds.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1027-1029)cCc>cTc		Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.							42	42	42					X																	125685564		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685564G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1028C>T	X.37:g.125685564G>A	ENSP00000360167:p.Pro343Leu					DCAF12L1_uc004eul.3_Missense_Mutation_p.P343L	p.P343L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			0	1028	-			343					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1028C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	6.988	0.552398	0.13374	.	.	ENSG00000198889	ENST00000371126	T	0.63096	-0.02	3.64	1.82	0.25136	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.35677	N	0.003046	T	0.46718	0.1407	L	0.46157	1.445	0.19775	N	0.999955	B	0.21071	0.051	B	0.16722	0.016	T	0.22417	-1.0217	10	0.19147	T	0.46	.	5.5905	0.17299	0.1144:0.0:0.6896:0.196	.	343	Q5VU92	DC121_HUMAN	L	343	ENSP00000360167:P343L	ENSP00000360167:P343L	P	-	2	0	DCAF12L1	125513245	1.000000	0.71417	0.000000	0.03702	0.294000	0.27393	6.136000	0.71703	0.367000	0.24454	0.429000	0.28392	CCC		0.602	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		A	125685564	G	A	125685564	3	1	271	1	0	0	0	0	1	0	0	0	4264	1232	43	3	367	3	DCAF12L1	23	125685564	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	6710483	125685564	29584996	111	19395											
MST4	51765	broad.mit.edu	37	chrX	131207025	131207025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgctagcaggaatcaggCgattgaagaactcgagaaaa	17	6	11	7	3	1	3	1	1	0	2	2	6	1	4	0	2	3	2	0	2	7	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:131207025C>T	ENST00000354719.6	+	10	1274	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	MST4_ENST00000394334.2_Missense_Mutation_p.A377V|MST4_ENST00000394335.2_Missense_Mutation_p.A300V|MST4_ENST00000496850.1_Missense_Mutation_p.A315V|MST4_ENST00000481105.1_Missense_Mutation_p.A399V																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGGAATCAGGCGATTGAAGAA	0.358																																						uc004ewk.1																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1129-1131)gCg>gTg		Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.							66	71	69					X																	131207025		2198	4295	6493	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207025C>T																												ENST00000354719.6:c.1058C>T	X.37:g.131207025C>T	ENSP00000346755:p.Ala353Val					MST4_uc004ewl.1_Missense_Mutation_p.A300V|MST4_uc011mux.1_Missense_Mutation_p.A399V|MST4_uc010nrj.1_Missense_Mutation_p.A353V|MST4_uc004ewm.1_Missense_Mutation_p.A315V	p.A377V	NM_016542	NP_057626	Q9P289	MST4_HUMAN			10	1431	+	Acute lymphoblastic leukemia(192;0.000127)		377						Missense_Mutation	SNP	ENST00000354719.6	37	c.1130C>T		.	.	.	.	.	.	.	.	.	.	c	19.59	3.855480	0.71719	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000005	T	0.29491	0.0735	N	0.21617	0.685	0.58432	D	0.999998	B;B;P;B;B	0.34892	0.051;0.008;0.474;0.042;0.013	B;B;B;B;B	0.24394	0.017;0.008;0.053;0.018;0.008	T	0.05053	-1.0909	10	0.27785	T	0.31	.	19.0056	0.92849	0.0:1.0:0.0:0.0	.	399;353;315;300;377	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	V	377;399;353;300;315	ENSP00000377867:A377V;ENSP00000418753:A399V;ENSP00000346755:A353V;ENSP00000377868:A300V;ENSP00000419702:A315V	ENSP00000346755:A353V	A	+	2	0	AL109749.1	131034706	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.507000	0.66999	2.437000	0.82529	0.519000	0.50382	GCG		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			T	131207025	C	T	131207025	3	4	271	1	0	0	0	0	1	0	0	0	9892	768	27	1	1168	1	MST4	23	131207025	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5521461	131207025	24063535	112	19396											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatacttggaaaagatcGcctccacatccgatttcttg	10	12	7	12	2	1	1	0	0	1	1	4	3	3	2	4	1	2	0	4	1	3	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473																																						uc010obf.2																			0											c.(103-105)gCg>gTg		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							171	158	163					1																	12908039		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12908039G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.104C>T	1.37:g.12908039G>A	ENSP00000365370:p.Ala35Val					LOC649330_uc009vno.2_Missense_Mutation_p.A35V	p.A35V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	330	-			35					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.104C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.370748	0.42003	.	.	ENSG00000179172	ENST00000317869	T	0.17054	2.3	1.09	-1.27	0.09347	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.132742	0.49305	N	0.000153	T	0.09024	0.0223	L	0.34521	1.04	0.32473	N	0.542534	P	0.44195	0.828	B	0.37780	0.258	T	0.29212	-1.0019	10	0.33940	T	0.23	.	5.3693	0.16131	0.39:0.0:0.61:0.0	.	35	O60812	HNRCL_HUMAN	V	35	ENSP00000365370:A35V	ENSP00000365370:A35V	A	-	2	0	HNRNPCL1	12830626	1.000000	0.71417	0.004000	0.12327	0.045000	0.14185	4.843000	0.62838	-0.384000	0.07845	-0.505000	0.04504	GCG		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		A	12908039	G	A	12908039	3	1	272	1	0	0	0	0	1	0	0	0	7263	1087	38	1	779	1	HNRNPCL1	1	12908039	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		12908039	236342582	1	19397											
CSMD2	114784	broad.mit.edu	37	chr1	34123559	34123559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaccgatgcatgttggCgggctgggctgccagaagaa	8	10	15	8	2	0	2	0	0	0	2	0	3	0	2	2	3	3	5	2	3	3	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:34123559C>T	ENST00000373380.1	-	6	1273	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	CSMD2_ENST00000373381.4_Silent_p.P1478P|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1438	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCATGTTGGCGGGCTGGGCT	0.572																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4432-4434)ccG>ccA		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							103	97	99					1																	34123559		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123559C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1053G>A	1.37:g.34123559C>T						CSMD2_uc001bxn.1_Silent_p.P1438P|CSMD2_uc001bxo.1_Silent_p.P351P	p.P1478P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			26	4611	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1438			CUB 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.4434G>A																																																																																					0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		T	34123559	C	T	34123559	2	4	272	1	0	0	0	0	0	0	0	1	3945	755	27	1		1	CSMD2	1	34123559	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	21215520	34123559	215127062	2	19398											
TIE1	7075	broad.mit.edu	37	chr1	43774798	43774798	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccagacggcactgtgcTcctggtcagcccccaatcac	9	6	9	17	1	2	1	2	0	0	1	3	1	3	1	4	2	3	2	4	2	2	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:43774798T>A	ENST00000372476.3	+	8	1263	c.1184T>A	c.(1183-1185)cTc>cAc	p.L395H	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Missense_Mutation_p.L40H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	395	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACTGTGCTCCTGGTCAGC	0.617																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1183-1185)cTc>cAc		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							41	44	43					1																	43774798		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774798T>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1184T>A	1.37:g.43774798T>A	ENSP00000361554:p.Leu395His					TIE1_uc010okd.2_Missense_Mutation_p.L395H|TIE1_uc010oke.2_Missense_Mutation_p.L350H|TIE1_uc009vwq.3_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.2_Missense_Mutation_p.L40H|TIE1_uc010okc.2_Intron	p.L395H	NM_005424	NP_005415	P35590	TIE1_HUMAN			7	1361	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	395			Ig-like C2-type 2.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1184T>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646909	0.87958	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.42900	2.24;0.96	5.13	5.13	0.70059	Immunoglobulin-like fold (1);	0.215542	0.23409	N	0.048481	T	0.63546	0.2520	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;0.993;0.997;1.0	D;D;D;P;D	0.72075	0.912;0.947;0.916;0.819;0.976	T	0.67917	-0.5546	10	0.87932	D	0	.	14.9642	0.71179	0.0:0.0:0.0:1.0	.	40;350;395;40;395	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	H	395;40	ENSP00000361554:L395H;ENSP00000411728:L40H	ENSP00000361554:L395H	L	+	2	0	TIE1	43547385	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	7.662000	0.83803	1.941000	0.56285	0.460000	0.39030	CTC		0.617	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		A	43774798	T	A	43774798	3	1	272	1	0	0	0	0	1	0	0	0	15890	1551	54	5	1214	5	TIE1	1	43774798	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08	9651239	43774798	205475823	3	19399											
C8A	731	broad.mit.edu	37	chr1	57341829	57341829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtcagggccattgaCgaagactgcagccagtatga	13	7	13	8	1	1	4	1	2	0	2	1	6	1	4	2	1	2	2	2	1	3	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:57341829C>T	ENST00000361249.3	+	4	507	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	137	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGCCATTGACGAAGACTGCA	0.532																																						uc001cyo.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(409-411)gaC>gaT		Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.							137	119	125					1																	57341829		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341829C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.411C>T	1.37:g.57341829C>T							p.D137D	NM_000562	NP_000553	P07357	CO8A_HUMAN			3	543	+			137			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.411C>T	CCDS606.1																																																																																				0.532	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57341829	C	T	57341829	2	4	272	1	0	0	0	0	0	0	0	1	2416	535	19	1		1	C8A	1	57341829	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	13567031	57341829	191908792	4	19400											
FLG	2312	broad.mit.edu	37	chr1	152275685	152275685	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagccatctcttgactgctCccgagaagatccatgatggt	9	10	11	11	1	1	4	0	2	1	2	4	6	3	5	3	2	2	1	3	2	1	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:152275685C>A	ENST00000368799.1	-	3	11712	c.11677G>T	c.(11677-11679)Gag>Tag	p.E3893*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3893	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACTGCTCCCGAGAAGAT	0.537									Ichthyosis																													uc001ezu.1																			0		p.R3892L(1)|p.R3892Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11677-11679)Gag>Tag		Homo sapiens filaggrin (FLG), mRNA.							96	99	98					1																	152275685		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275685C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11677G>T	1.37:g.152275685C>A	ENSP00000357789:p.Glu3893*						p.E3893*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3893			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.11677G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	50	16.968189	0.99876	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.17	1.2	0.21068	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.9242	0.19099	0.3106:0.6894:0.0:0.0	.	.	.	.	X	3893	.	ENSP00000357789:E3893X	E	-	1	0	FLG	150542309	0.906000	0.30813	0.000000	0.03702	0.000000	0.00434	0.628000	0.24522	0.452000	0.26830	-0.330000	0.08379	GAG		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152275685	C	A	152275685	4	1	272	1	0	0	0	0	0	1	0	0	5922	864	30	5	512	5	FLG	1	152275685	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	94933856	152275685	96974936	5	19401											
CD1D	912	broad.mit.edu	37	chr1	158153826	158153826	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggtttaagaggcaaacGtaagtctcccctttcccttt	8	13	7	13	2	1	1	0	0	1	1	4	1	3	1	4	2	1	3	4	2	3	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512																																						uc001frr.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.e6+1		Homo sapiens CD1d molecule (CD1D), mRNA.							340	309	320					1																	158153826		2203	4300	6503	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153826G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1G>A	1.37:g.158153826G>A						CD1D_uc009wss.3_Splice_Site_p.T236_splice	p.T329_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN			6	1485	+	all_hematologic(112;0.0378)		329					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Splice_Site	SNP	ENST00000368171.3	37	c.986_splice	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447165	0.25987	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6401	0.51228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1D	156420450	0.982000	0.34865	0.257000	0.24404	0.009000	0.06853	2.797000	0.47877	2.450000	0.82876	0.650000	0.86243	.		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	Intron	A	158153826	G	A	158153826	5	1	272	1	0	0	0	0	0	0	1	0	2977	1159	40	1	1005	1	CD1D	1	158153826	Splice_Site	SNP	G	TCGA-76-6285-01A-11D-1696-08	5878141	158153826	91096795	6	19402											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106332	249106332	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaggctgctgccctcctCcagccccgcaccctcggccc	3	5	8	25	2	0	0	0	0	0	0	3	0	2	0	9	2	3	3	9	2	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:249106332C>A	ENST00000366472.5	-	7	2178	c.949G>T	c.(949-951)Gag>Tag	p.E317*	SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.E285*|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	317										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCCCTCCTCCAGCCCCGCA	0.731																																						uc001iew.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(949-951)Gag>Tag		Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.							14	19	17					1																	249106332		2197	4284	6481	SO:0001587	stop_gained	80851							g.chr1:249106332C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.949G>T	1.37:g.249106332C>A	ENSP00000355428:p.Glu317*					SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.E210*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.E198*	p.E317*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1501	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	317					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Nonsense_Mutation	SNP	ENST00000366472.5	37	c.949G>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364133	0.82353	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.38	4.38	0.52667	.	0.161257	0.42053	D	0.000775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-21.815	12.6392	0.56700	0.0:1.0:0.0:0.0	.	.	.	.	X	317;285	.	ENSP00000355428:E317X	E	-	1	0	SH3BP5L	247072955	0.099000	0.21834	0.959000	0.39883	0.546000	0.35178	1.854000	0.39368	2.434000	0.82447	0.313000	0.20887	GAG		0.731	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		A	249106332	C	A	249106332	4	1	272	1	0	0	0	0	0	1	0	0	14248	864	30	5	236	5	SH3BP5L	1	249106332	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	90952506	249106332	144289	7	19403											
SP3	6670	broad.mit.edu	37	chr2	174820235	174820235	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaacaggcaactgtgatgaAgaggatgttggcacaaataa	16	8	12	5	0	0	3	0	2	0	1	0	4	0	4	0	3	2	4	0	3	5	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:174820235A>G	ENST00000310015.6	-	4	1535	c.1005T>C	c.(1003-1005)tcT>tcC	p.S335S	SP3_ENST00000418194.2_Silent_p.S267S|SP3_ENST00000455789.2_Silent_p.S282S|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	335					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTGTGATGAAGAGGATGTTG	0.378																																						uc002uig.3																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1003-1005)tcT>tcC		Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.							127	128	128					2																	174820235		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820235A>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1005T>C	2.37:g.174820235A>G						SP3_uc002uie.3_Silent_p.S267S|SP3_uc002uif.3_Silent_p.S282S|SP3_uc010zel.2_Silent_p.S332S	p.S335S	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		3	1536	-			335					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.1005T>C	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	A	4.439	0.081190	0.08533	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.51	3.1	0.35709	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51004	-0.8760	4	.	.	.	.	7.7813	0.29066	0.7874:0.1404:0.0721:0.0	.	.	.	.	P	292	.	.	L	-	2	0	SP3	174528481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.525000	0.35953	0.877000	0.35895	0.460000	0.39030	CTT		0.378	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		G	174820235	A	G	174820235	2	3	272	1	0	0	0	0	0	0	0	1	14965	59	3	4		4	SP3	2	174820235	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08		174820235	68379138	8	19404											
GPR1	2825	broad.mit.edu	37	chr2	207041266	207041266	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggagatcaggatgcttcGcttcttcaccttgaagatga	10	12	10	9	1	3	4	2	2	1	2	4	6	3	5	1	2	1	2	1	2	1	4	rs34685097	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:207041266G>A	ENST00000407325.2	-	3	1068	c.706C>T	c.(706-708)Cga>Tga	p.R236*	GPR1_ENST00000437420.1_Nonsense_Mutation_p.R236*	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	236					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGATGCTTCGCTTCTTCACC	0.438													G|||	3	0.000599042	0	0	5008	,	,		22634	0.002		0	False		,,,				2504	0.001					uc021vvl.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(706-708)Cga>Tga		Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	100	101	101		706,706	3.8	1	2	dbSNP_126	101	0,8600		0,0,4300	yes	stop-gained,stop-gained	GPR1	NM_001098199.1,NM_005279.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	236/356,236/356	207041266	1,13005	2203	4300	6503	SO:0001587	stop_gained	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041266G>A		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.706C>T	2.37:g.207041266G>A	ENSP00000384345:p.Arg236*					GPR1_uc002vbl.4_Nonsense_Mutation_p.R236*|GPR1_uc010fue.3_Nonsense_Mutation_p.R236*|GPR1_uc010fuf.3_Nonsense_Mutation_p.R236*	p.R236*	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	0	706	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	236					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Nonsense_Mutation	SNP	ENST00000407325.2	37	c.706C>T	CCDS2368.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.6	5.017612	0.93404	2.27E-4	0.0	ENSG00000183671	ENST00000407325;ENST00000437420	.	.	.	5.7	3.82	0.43975	.	0.416599	0.24102	N	0.041529	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1648	0.65469	0.0:0.0:0.5134:0.4866	rs34685097	.	.	.	X	236	.	ENSP00000384345:R236X	R	-	1	2	GPR1	206749511	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.939000	0.40213	1.400000	0.46741	0.655000	0.94253	CGA		0.438	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		A	207041266	G	A	207041266	4	1	272	1	0	0	0	0	0	1	0	0	6621	1095	38	1	365	1	GPR1	2	207041266	Nonsense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	32221031	207041266	36158107	9	19405											
COPS7B	64708	broad.mit.edu	37	chr2	232653347	232653347	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactagccaaaggtaccAgtggctcagccctcactgct	9	11	8	13	0	2	0	2	0	0	0	2	0	2	0	3	2	5	3	3	2	4	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:232653347A>T	ENST00000350033.3	+	2	208	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Missense_Mutation_p.S23C|COPS7B_ENST00000410017.1_Missense_Mutation_p.S23C|COPS7B_ENST00000373608.3_Missense_Mutation_p.S23C	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	23					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAAGGTACCAGTGGCTCAGC	0.493																																						uc002vsh.1																			0				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8						c.(67-69)Agt>Tgt		Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.							85	87	86					2																	232653347		2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232653347A>T	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B", "COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.67A>T	2.37:g.232653347A>T	ENSP00000272995:p.Ser23Cys					COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsg.1_Missense_Mutation_p.S23C|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank	p.S23C			Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	1	170	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	23					Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.67A>T	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790692	0.90367	.	.	ENSG00000144524	ENST00000410024;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608	T;T;T;T	0.52057	0.71;0.71;0.68;0.68	5.06	5.06	0.68205	.	0.213716	0.47455	D	0.000221	T	0.55689	0.1936	L	0.39898	1.24	0.52501	D	0.999959	P;B	0.50943	0.94;0.221	P;B	0.57324	0.818;0.159	T	0.59311	-0.7478	10	0.72032	D	0.01	-6.3719	14.9694	0.71220	1.0:0.0:0.0:0.0	.	23;23	Q9H9Q2-3;Q9H9Q2	.;CSN7B_HUMAN	C	23	ENSP00000386567:S23C;ENSP00000272995:S23C;ENSP00000386880:S23C;ENSP00000362710:S23C	ENSP00000272995:S23C	S	+	1	0	COPS7B	232361591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.002000	0.63952	2.111000	0.64477	0.460000	0.39030	AGT		0.493	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		T	232653347	A	T	232653347	3	4	272	1	0	0	0	0	1	0	0	0	3739	188	7	5	69	5	COPS7B	2	232653347	Missense_Mutation	SNP	A	TCGA-76-6285-01A-11D-1696-08	25612081	232653347	10546026	10	19406											
CNTN6	27255	broad.mit.edu	37	chr3	1339608	1339608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaccaaagattgaagtgCgttttcctgaaactatacaa	16	11	7	7	1	0	4	0	3	0	1	1	4	1	4	2	0	4	1	2	0	7	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:1339608C>T	ENST00000446702.2	+	7	1321	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	CNTN6_ENST00000350110.2_Missense_Mutation_p.R232C|CNTN6_ENST00000539053.1_Missense_Mutation_p.R160C			Q9UQ52	CNTN6_HUMAN	contactin 6	232	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATTGAAGTGCGTTTTCCTGA	0.358																																						uc003boz.3																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(694-696)Cgt>Tgt		Homo sapiens contactin 6 (CNTN6), mRNA.							130	137	134					3																	1339608		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1339608C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.694C>T	3.37:g.1339608C>T	ENSP00000407822:p.Arg232Cys					CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.2_Missense_Mutation_p.R160C|CNTN6_uc003bpa.3_Missense_Mutation_p.R232C	p.R232C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	6	961	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	232			Ig-like C2-type 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.694C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115426	0.56505	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.79033	-1.23;-1.23;-1.23	4.95	4.95	0.65309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	D	0.87224	0.6124	M	0.78916	2.43	0.51012	D	0.999904	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88444	0.3044	10	0.72032	D	0.01	.	13.1764	0.59629	0.1597:0.8403:0.0:0.0	.	160;232	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	C	232;160;232	ENSP00000407822:R232C;ENSP00000442791:R160C;ENSP00000341882:R232C	ENSP00000341882:R232C	R	+	1	0	CNTN6	1314608	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	4.531000	0.60602	2.443000	0.82685	0.650000	0.86243	CGT		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		T	1339608	C	T	1339608	3	4	272	1	0	0	0	0	1	0	0	0	3645	768	27	1	716	1	CNTN6	3	1339608	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		1339608	196682822	11	19407											
TRH	7200	broad.mit.edu	37	chr3	129696024	129696024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagcaccctggtcggCgggcagcctgggtcagagag	7	4	18	12	3	1	1	1	0	0	1	2	2	1	1	2	5	3	3	2	5	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:129696024C>T	ENST00000302649.3	+	3	1221	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	TRH_ENST00000507066.1_Missense_Mutation_p.R228W	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCTGGTCGGCGGGCAGCCTG	0.622																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(694-696)Cgg>Tgg		Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.							20	22	21					3																	129696024		2199	4275	6474	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129696024C>T		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.694C>T	3.37:g.129696024C>T	ENSP00000303452:p.Arg232Trp						p.R232W	NM_007117	NP_009048	P20396	TRH_HUMAN			2	1255	+			232					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.694C>T	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	C	3.576	-0.086530	0.07097	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.57907	0.37;0.37	4.42	-4.42	0.03579	.	0.302445	0.35013	N	0.003517	T	0.28599	0.0708	L	0.28400	0.85	0.09310	N	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.05699	-1.0869	10	0.56958	D	0.05	-6.4951	2.0188	0.03504	0.502:0.2058:0.1237:0.1686	.	232	P20396	TRH_HUMAN	W	232;228	ENSP00000303452:R232W;ENSP00000426522:R228W	ENSP00000303452:R232W	R	+	1	2	TRH	131178714	0.638000	0.27225	0.002000	0.10522	0.002000	0.02628	-0.021000	0.12504	-0.671000	0.05274	-1.283000	0.01379	CGG		0.622	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		T	129696024	C	T	129696024	3	4	272	1	0	0	0	0	1	0	0	0	16475	759	27	1	700	1	TRH	3	129696024	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	128356416	129696024	68326406	12	19408											
HLTF	6596	broad.mit.edu	37	chr3	148768105	148768105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctaatacgatcaggacCataataaacataaaaattca	19	11	3	8	1	3	0	2	0	1	0	4	2	3	1	1	1	2	0	1	1	8	7			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:148768105C>T	ENST00000310053.5	-	15	1724	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	HLTF_ENST00000392912.2_Missense_Mutation_p.G511S|HLTF_ENST00000494055.1_Missense_Mutation_p.G511S|HLTF_ENST00000465259.1_Missense_Mutation_p.G510S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	511	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGATCAGGACCATAATAAACA	0.299																																						uc003ewq.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1531-1533)Ggt>Agt		Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.							68	70	69					3																	148768105		2202	4291	6493	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148768105C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1531G>A	3.37:g.148768105C>T	ENSP00000308944:p.Gly511Ser					HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	p.G511S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		14	1749	-			511			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1531G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555394	0.96514	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	5.75	5.75	0.90469	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.97794	0.9276	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98276	1.0506	9	0.87932	D	0	0.046	18.709	0.91649	0.0:1.0:0.0:0.0	.	511;511;511	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	510;511;511;511	ENSP00000420745:G510S;ENSP00000308944:G511S;ENSP00000376644:G511S;ENSP00000420429:G511S	ENSP00000308944:G511S	G	-	1	0	HLTF	150250795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.780000	0.75063	2.717000	0.92951	0.650000	0.86243	GGT		0.299	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			T	148768105	C	T	148768105	3	4	272	1	0	0	0	0	1	0	0	0	7215	594	21	3	1542	3	HLTF	3	148768105	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	19072081	148768105	49254325	13	19409											
ACCN5	51802	broad.mit.edu	37	chr4	156764907	156764907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacccatcaaactgtggcaCcttctttggtgaatggataa	12	12	8	9	0	2	1	1	1	1	0	2	2	2	2	2	3	2	1	2	3	4	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr4:156764907C>A	ENST00000537611.2	-	5	833	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	263					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AACTGTGGCACCTTCTTTGGT	0.453																																						uc003ipe.1																			0											c.(787-789)Gtg>Ttg		Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.							159	129	139					4																	156764907		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156764907C>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.787G>T	4.37:g.156764907C>A	ENSP00000442477:p.Val263Leu						p.V263L	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN			4	834	-			263						Missense_Mutation	SNP	ENST00000537611.2	37	c.787G>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805111	0.16467	.	.	ENSG00000256394	ENST00000537611	T	0.63580	-0.05	4.58	3.65	0.41850	.	1.008870	0.07962	N	0.982509	T	0.47619	0.1455	L	0.35414	1.06	0.22171	N	0.999314	B	0.02656	0.0	B	0.15052	0.012	T	0.32719	-0.9896	10	0.11485	T	0.65	0.0049	7.6183	0.28171	0.0:0.5333:0.3677:0.099	.	263	Q9NY37	ACCN5_HUMAN	L	263	ENSP00000442477:V263L	ENSP00000264432:V263L	V	-	1	0	ACCN5	156984357	0.992000	0.36948	0.975000	0.42487	0.303000	0.27691	1.242000	0.32755	2.492000	0.84095	0.591000	0.81541	GTG		0.453	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			A	156764907	C	A	156764907	3	1	272	1	0	0	0	0	1	0	0	0	132	507	18	5	754	5	ACCN5	4	156764907	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		156764907	34389369	14	19410											
TAS2R1	50834	broad.mit.edu	37	chr5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggatagacagcaacGcgctgatgggtgcacccctg	11	5	14	11	2	0	2	0	1	0	1	0	4	0	4	2	3	3	3	2	3	2	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:9629468G>A	ENST00000382492.2	-	1	995	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGACAGCAACGCGCTGATGGG	0.498																																						uc003jem.1																			0		p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(676-678)gCg>gTg		Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.							64	72	70					5																	9629468		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629468G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.677C>T	5.37:g.9629468G>A	ENSP00000371932:p.Ala226Val						p.A226V	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			0	996	-			226					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.677C>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811842	0.70797	.	.	ENSG00000169777	ENST00000382492	T	0.01422	4.91	5.55	5.55	0.83447	.	0.147373	0.43919	D	0.000501	T	0.09069	0.0224	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.08249	-1.0731	9	.	.	.	.	10.2602	0.43423	0.0868:0.0:0.9132:0.0	.	226	Q9NYW7	TA2R1_HUMAN	V	226	ENSP00000371932:A226V	.	A	-	2	0	TAS2R1	9682468	0.033000	0.19621	0.008000	0.14137	0.001000	0.01503	2.375000	0.44283	2.894000	0.99253	0.655000	0.94253	GCG		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629468	G	A	9629468	3	1	272	1	0	0	0	0	1	0	0	0	15562	1087	38	1	226	1	TAS2R1	5	9629468	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		9629468	171285792	15	19411											
ITGA2	3673	broad.mit.edu	37	chr5	52344242	52344242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatcagtattacacaaCgggtgtgtgttctgacatca	11	12	11	7	1	3	1	2	1	1	0	3	2	3	2	0	2	2	2	0	2	4	3	rs148042733		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:52344242C>T	ENST00000296585.5	+	5	580	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	146					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TATTACACAACGGGTGTGTGT	0.438																																						uc003joy.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(436-438)aCg>aTg		Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	168	159	162		437	4.4	1	5	dbSNP_134	162	0,8600		0,0,4300	no	missense	ITGA2	NM_002203.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	146/1182	52344242	1,13005	2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52344242C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.437C>T	5.37:g.52344242C>T	ENSP00000296585:p.Thr146Met					ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.T70M|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	p.T146M	NM_002203	NP_002194	P17301	ITA2_HUMAN			4	580	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	146					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.437C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828806	0.71258	2.27E-4	0.0	ENSG00000164171	ENST00000296585	D	0.92545	-3.06	5.34	4.42	0.53409	.	0.055807	0.64402	D	0.000001	D	0.95544	0.8552	M	0.79475	2.455	0.49483	D	0.999791	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.971	D	0.95889	0.8905	10	0.87932	D	0	.	14.7785	0.69749	0.145:0.855:0.0:0.0	.	146;146	E7ESP4;P17301	.;ITA2_HUMAN	M	146	ENSP00000296585:T146M	ENSP00000296585:T146M	T	+	2	0	ITGA2	52379999	1.000000	0.71417	0.951000	0.38953	0.701000	0.40568	5.666000	0.68059	2.482000	0.83794	0.557000	0.71058	ACG		0.438	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		T	52344242	C	T	52344242	3	4	272	1	0	0	0	0	1	0	0	0	7875	536	19	1	455	1	ITGA2	5	52344242	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	42714774	52344242	128571018	16	19412											
RGNEF	64283	broad.mit.edu	37	chr5	73148496	73148496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagagcttacagcttatCggagccaccaagagaaaaca	17	5	9	10	1	0	2	0	0	0	2	1	4	0	3	2	1	5	3	2	1	6	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:73148496C>T	ENST00000426542.2	+	13	1789	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S590L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S590L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S590L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S277L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S590L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S590L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	590					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TACAGCTTATCGGAGCCACCA	0.378																																						uc010izf.3																			0											c.(1768-1770)tCg>tTg		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							172	162	165					5																	73148496		1873	4110	5983	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73148496C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1769C>T	5.37:g.73148496C>T	ENSP00000412175:p.Ser590Leu					RGNEF_uc011csq.2_Missense_Mutation_p.S590L|RGNEF_uc003kcy.1_3'UTR|RGNEF_uc021yam.1_Missense_Mutation_p.S590L|RGNEF_uc011csr.2_Missense_Mutation_p.S277L	p.S590L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	13	1945	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	590					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1769C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093865	0.20471	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10477	3.12;3.12;3.12;2.87;3.12;3.12;2.95	6.17	3.36	0.38483	.	.	.	.	.	T	0.07999	0.0200	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.14438	0.01;0.006;0.006;0.01	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31392	-0.9945	9	0.49607	T	0.09	.	10.2189	0.43186	0.2411:0.6948:0.0:0.0641	.	277;590;590;590	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	L	590;590;590;590;590;590;277	ENSP00000296794:S590L;ENSP00000441913:S590L;ENSP00000441436:S590L;ENSP00000287898:S590L;ENSP00000411459:S590L;ENSP00000412175:S590L;ENSP00000296799:S277L	ENSP00000287898:S590L	S	+	2	0	RP11-428C6.1	73184252	0.049000	0.20398	0.046000	0.18839	0.212000	0.24457	1.594000	0.36697	0.430000	0.26230	0.655000	0.94253	TCG		0.378	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73148496	C	T	73148496	3	4	272	1	0	0	0	0	1	0	0	0	13283	893	31	2	1819	2	RGNEF	5	73148496	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	20804254	73148496	107766764	17	19413											
SLC27A6	28965	broad.mit.edu	37	chr5	128368954	128368954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactttatgatcaaataatGttaggggaaataaaacttta	18	13	7	3	0	1	1	1	1	0	0	1	3	1	2	0	2	2	1	0	2	9	7			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:128368954G>T	ENST00000262462.4	+	10	2849	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.M613I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.M613I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	613					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATCAAATAATGTTAGGGGAAA	0.318																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1837-1839)atG>atT		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							42	43	43					5																	128368954		2203	4295	6498	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128368954G>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1839G>T	5.37:g.128368954G>T	ENSP00000262462:p.Met613Ile					SLC27A6_uc003kuz.3_Missense_Mutation_p.M613I	p.M613I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	10	2235	+		all_cancers(142;0.0483)|Prostate(80;0.055)	613					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1839G>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	0.620	-0.821385	0.02755	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.51574	0.7;0.7;0.7	4.17	-5.39	0.02664	.	0.968583	0.08592	N	0.922781	T	0.20700	0.0498	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31530	-0.9940	9	.	.	.	-2.8198	10.527	0.44954	0.7255:0.0:0.1634:0.1111	.	613	Q9Y2P4	S27A6_HUMAN	I	613	ENSP00000262462:M613I;ENSP00000378684:M613I;ENSP00000421024:M613I	.	M	+	3	0	SLC27A6	128396853	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	-1.664000	0.01966	-1.340000	0.02227	0.585000	0.79938	ATG		0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		T	128368954	G	T	128368954	3	4	272	1	0	0	0	0	1	0	0	0	14530	1377	48	5	1877	5	SLC27A6	5	128368954	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	55220458	128368954	52546306	18	19414											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975124	32975124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcatccaggccccagtGctccacctggcagtcataga	8	7	11	15	1	1	1	1	0	0	1	3	1	3	1	5	3	1	3	5	3	1	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:32975124G>A	ENST00000229829.5	-	3	652	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.H163Y|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	193	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGGCCCCAGTGCTCCACCTGG	0.597																																						uc003ocr.3																			0		p.H193Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(577-579)Cac>Tac		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							100	114	109					6																	32975124		1511	2709	4220	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975124G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.577C>T	6.37:g.32975124G>A	ENSP00000229829:p.His193Tyr					HLA-DOA_uc010juj.3_Missense_Mutation_p.H163Y|HLA-DOA_uc010jui.3_Missense_Mutation_p.H193Y	p.H193Y	NM_002119	NP_002110	P06340	DOA_HUMAN			2	653	-			193			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.577C>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511126	0.85389	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.06218	3.33;3.33	4.51	4.51	0.55191	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	H	0.97659	4.05	0.51482	D	0.999928	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.53725	-0.8398	10	0.87932	D	0	.	15.1456	0.72647	0.0:0.0:1.0:0.0	.	163;193	B4DW77;P06340	.;DOA_HUMAN	Y	193;163	ENSP00000229829:H193Y;ENSP00000403896:H163Y	ENSP00000229829:H193Y	H	-	1	0	HLA-DOA	33083102	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.320000	0.65841	2.501000	0.84356	0.650000	0.86243	CAC		0.597	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		A	32975124	G	A	32975124	3	1	272	1	0	0	0	0	1	0	0	0	7200	1319	46	3	187	3	HLA-DOA	6	32975124	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		32975124	138139943	19	19415											
VPS52	6293	broad.mit.edu	37	chr6	33238055	33238055	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctggagcccaggaccAcccgcctggaaagggataag	10	5	14	12	1	0	0	0	0	0	0	1	4	1	4	5	5	1	1	5	5	2	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:33238055A>C	ENST00000445902.2	-	2	314	c.96T>G	c.(94-96)ggT>ggG	p.G32G	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_5'UTR|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	32					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGGACCACCCGCCTGGA	0.483																																						uc003odm.1																			0		p.A31A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(94-96)ggT>ggG		Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.							70	75	73					6																	33238055		2203	4300	6503	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33238055A>C	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.96T>G	6.37:g.33238055A>C						VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_5'UTR|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	p.G32G	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			1	306	-			32					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.96T>G	CCDS4770.2																																																																																				0.483	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		C	33238055	A	C	33238055	2	2	272	1	0	0	0	0	0	0	0	1	17211	146	6	5		5	VPS52	6	33238055	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08	262931	33238055	137877012	20	19416											
TBX18	9096	broad.mit.edu	37	chr6	85446874	85446874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataggagggagtcctgggCggggcaaaggtctcaccagc	10	5	16	10	1	1	0	1	0	1	0	3	2	2	2	2	6	1	1	2	6	2	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:85446874C>T	ENST00000369663.5	-	8	1690	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	451					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGTCCTGGGCGGGGCAAAGG	0.612																																						uc003pkl.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1351-1353)ccG>ccA		Homo sapiens T-box 18 (TBX18), mRNA.							96	87	90					6																	85446874		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446874C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1353G>A	6.37:g.85446874C>T						TBX18_uc010kbq.2_Intron	p.P451P	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1353	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	451					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1353G>A	CCDS34495.1																																																																																				0.612	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		T	85446874	C	T	85446874	2	4	272	1	0	0	0	0	0	0	0	1	15650	755	27	1		1	TBX18	6	85446874	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	52208819	85446874	85668193	21	19417											
TPD52L1	7164	broad.mit.edu	37	chr6	125541243	125541243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgttggagactgaaccGttgcaaggaacagacgaaga	13	8	14	6	2	0	4	0	1	0	3	0	7	0	5	1	3	3	4	1	3	4	3	rs368146966		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:125541243G>A	ENST00000534000.1	+	2	335	c.39G>A	c.(37-39)ccG>ccA	p.P13P	TPD52L1_ENST00000304877.13_Silent_p.P13P|TPD52L1_ENST00000534199.1_De_novo_Start_InFrame|TPD52L1_ENST00000527711.1_Silent_p.P13P|TPD52L1_ENST00000368388.2_Silent_p.P13P|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000524679.1_De_novo_Start_InFrame|TPD52L1_ENST00000392482.2_De_novo_Start_InFrame|TPD52L1_ENST00000368402.5_Silent_p.P13P|TPD52L1_ENST00000528193.1_Silent_p.P13P|TPD52L1_ENST00000532429.1_De_novo_Start_InFrame	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	13					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGACTGAACCGTTGCAAGGAA	0.413																																						uc003pzu.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(37-39)ccG>ccA		Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.		A	,,,	2,4404	826.0+/-416.6	0,2,2201	126	124	125		,39,39,39	-0.3	0	6		125	0,8600		0,0,4300	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	TPD52L1	NM_001003395.1,NM_001003396.1,NM_001003397.1,NM_003287.2	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	,13/145,13/132,13/205	125541243	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7164				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125541243G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.39G>A	6.37:g.125541243G>A						TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	p.P13P	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	1	258	+			13					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.39G>A	CCDS5130.1																																																																																				0.413	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			A	125541243	G	A	125541243	2	1	272	1	0	0	0	0	0	0	0	1	16395	1132	40	1		1	TPD52L1	6	125541243	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	40094369	125541243	45573824	22	19418											
SYNJ2	8871	broad.mit.edu	37	chr6	158454502	158454502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaccagctgttgcaCgtgcccttgaggcagcacca	9	7	12	13	1	0	1	0	1	0	0	0	2	0	2	3	2	6	6	3	2	1	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158454502C>T	ENST00000355585.4	+	4	576	c.501C>T	c.(499-501)caC>caT	p.H167H	SYNJ2_ENST00000367121.3_Silent_p.H167H|SYNJ2_ENST00000449859.2_Silent_p.H116H|SYNJ2_ENST00000367122.2_Silent_p.H167H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	167	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCTGTTGCACGTGCCCTTGA	0.572																																						uc003qqx.2																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(499-501)caC>caT		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.							105	78	87					6																	158454502		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158454502C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.501C>T	6.37:g.158454502C>T						SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.H167H|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.H116H|SYNJ2_uc010kjo.1_Silent_p.H116H	p.H167H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	607	+			167			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.501C>T	CCDS5254.1																																																																																				0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158454502	C	T	158454502	2	4	272	1	0	0	0	0	0	0	0	1	15450	535	19	1		1	SYNJ2	6	158454502	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	32913259	158454502	12660565	23	19419											
SYNJ2	8871	broad.mit.edu	37	chr6	158483049	158483049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggcttcttgccacgCgggcgacacgcctatgatca	6	9	12	14	4	3	1	1	1	2	0	3	2	3	1	2	2	1	2	2	2	1	3	rs202038099		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158483049C>T	ENST00000355585.4	+	8	1055	c.980C>T	c.(979-981)gCg>gTg	p.A327V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.A327V|SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A327V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	327	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTTGCCACGCGGGCGACACG	0.562													C|||	1	0.000199681	0	0.0014	5008	,	,		18786	0		0	False		,,,				2504	0					uc003qqx.2																			1	Substitution - Missense(1)	p.A327V(2)	endometrium(1)	biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(979-981)gCg>gTg		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.							145	156	152					6																	158483049		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483049C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.980C>T	6.37:g.158483049C>T	ENSP00000347792:p.Ala327Val					SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Missense_Mutation_p.A327V|SYNJ2_uc003qqy.2_Missense_Mutation_p.A90V|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Missense_Mutation_p.A276V|SYNJ2_uc003qqz.2_5'UTR	p.A327V	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	7	1086	+			327			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.980C>T	CCDS5254.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.0	4.226226	0.79576	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.58210	0.35;0.35;0.35	5.12	4.26	0.50523	Synaptojanin, N-terminal (2);	0.094559	0.46442	N	0.000298	T	0.52677	0.1749	L	0.46741	1.465	0.80722	D	1	P;D;D	0.89917	0.801;1.0;1.0	B;D;D	0.91635	0.362;0.999;0.986	T	0.52518	-0.8565	10	0.48119	T	0.1	.	13.6261	0.62165	0.0:0.9251:0.0:0.0749	.	327;327;327	E7ER60;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	327	ENSP00000356089:A327V;ENSP00000356088:A327V;ENSP00000347792:A327V	ENSP00000347792:A327V	A	+	2	0	SYNJ2	158403037	0.995000	0.38212	0.003000	0.11579	0.558000	0.35554	3.235000	0.51328	-0.983000	0.03511	-1.753000	0.00675	GCG		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158483049	C	T	158483049	3	4	272	1	0	0	0	0	1	0	0	0	15450	768	27	1	1010	1	SYNJ2	6	158483049	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	28547	158483049	12632018	24	19420											
AGPAT4	56895	broad.mit.edu	37	chr6	161587289	161587289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgacttacccctaacagCccaaagcgttcggacaggct	10	9	8	14	2	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	3	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:161587289C>T	ENST00000320285.4	-	3	551	c.339G>A	c.(337-339)ggG>ggA	p.G113G	AGPAT4_ENST00000366906.5_Silent_p.G51G|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366905.3_Silent_p.G113G|AGPAT4_ENST00000366908.5_Silent_p.G113G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	113					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCCCTAACAGCCCAAAGCGTT	0.507																																						uc003qtr.1																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(337-339)ggG>ggA		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.							62	53	56					6																	161587289		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161587289C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.339G>A	6.37:g.161587289C>T						AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Silent_p.G113G|AGPAT4_uc011egd.1_Silent_p.G51G|AGPAT4_uc011ege.1_Intron	p.G113G	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	2	566	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	113					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.339G>A	CCDS5280.1																																																																																				0.507	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		T	161587289	C	T	161587289	2	4	272	1	0	0	0	0	0	0	0	1	389	726	26	3		3	AGPAT4	6	161587289	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	3104240	161587289	9527778	25	19421											
TYW1	55253	broad.mit.edu	37	chr7	66532361	66532361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccaccccgagcttggcGtgtgctaataaatgtgtctt	10	11	10	10	2	1	0	0	0	1	0	1	2	1	0	3	1	3	2	3	1	4	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:66532361G>A	ENST00000359626.5	+	10	1409	c.1245G>A	c.(1243-1245)gcG>gcA	p.A415A		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	415					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGAGCTTGGCGTGTGCTAATA	0.458																																						uc003tvn.3																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1243-1245)gcG>gcA		Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.							164	147	153					7																	66532361		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66532361G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1245G>A	7.37:g.66532361G>A						TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Silent_p.A29A	p.A415A	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			9	1394	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	415					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.1245G>A	CCDS5538.1																																																																																				0.458	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		A	66532361	G	A	66532361	2	1	272	1	0	0	0	0	0	0	0	1	16815	1132	40	1		1	TYW1	7	66532361	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08		66532361	92606302	26	19422											
C7orf51	222950	broad.mit.edu	37	chr7	100086489	100086489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcacgggagcgggagaCgcctcccccaccgcctccac	6	3	12	20	4	0	1	0	0	0	1	2	3	2	2	7	2	2	1	7	2	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:100086489C>T	ENST00000300179.2	+	4	1304	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	NYAP1_ENST00000423930.1_Missense_Mutation_p.T382M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T325M	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	382	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAGCGGGAGACGCCTCCCCCA	0.706																																						uc003uvd.1																			0											c.(1144-1146)aCg>aTg		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.							17	22	20					7																	100086489		2197	4285	6482	SO:0001583	missense	222950							g.chr7:100086489C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1145C>T	7.37:g.100086489C>T	ENSP00000300179:p.Thr382Met					NYAP1_uc003uve.1_Missense_Mutation_p.T164M	p.T382M	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	1304	+			382			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1145C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555516	0.45487	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.46819	0.86;0.86;0.86	4.75	4.75	0.60458	.	0.000000	0.50627	D	0.000118	T	0.52549	0.1741	L	0.29908	0.895	0.29533	N	0.852638	D;D	0.76494	0.999;0.997	D;P	0.76575	0.988;0.752	T	0.50162	-0.8860	10	0.49607	T	0.09	-11.9051	8.9738	0.35924	0.0:0.8976:0.0:0.1024	.	325;382	C9JS30;Q6ZVC0	.;CG051_HUMAN	M	382;382;325	ENSP00000300179:T382M;ENSP00000411861:T382M;ENSP00000394424:T325M	ENSP00000300179:T382M	T	+	2	0	C7orf51	99924425	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	1.478000	0.35442	2.180000	0.69256	0.462000	0.41574	ACG		0.706	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		T	100086489	C	T	100086489	3	4	272	1	0	0	0	0	1	0	0	0	2400	536	19	1	1155	1	C7orf51	7	100086489	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	33554128	100086489	59052174	27	19423											
RELN	5649	broad.mit.edu	37	chr7	103341383	103341383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagctgaatccagtcCgcagagttattcttggcata	9	14	8	10	1	2	2	0	1	2	1	5	2	4	2	2	1	1	4	2	1	4	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000424685.2_Silent_p.A292A|RELN_ENST00000343529.5_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	292					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(874-876)gcG>gcA		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							113	114	114					7																	103341383		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103341383C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.876G>A	7.37:g.103341383C>T						RELN_uc022ajq.1_Silent_p.A292A|RELN_uc010liz.3_Silent_p.A292A	p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	8	1036	-			292					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.876G>A	CCDS47680.1																																																																																				0.358	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103341383	C	T	103341383	2	4	272	1	0	0	0	0	0	0	0	1	13220	639	23	2		2	RELN	7	103341383	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	3254894	103341383	55797280	28	19424											
SPAM1	6677	broad.mit.edu	37	chr7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccctcagtataatgcGaagtatggtaagttgaattg	13	11	12	5	1	1	1	1	1	0	0	1	3	1	2	1	2	2	4	1	2	7	6	rs267601263	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0	0	5008	,	,		17337	0		0	False		,,,				2504	0.0031					uc003vle.3																			2	Substitution - Missense(2)	p.R346Q(3)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1036-1038)cGa>cAa		Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						180	178	179					7																	123595133		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595133G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln					SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN			3	1476	+			346					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1037G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123595133	G	A	123595133	3	1	272	1	0	0	0	0	1	0	0	0	14986	1058	37	2	1043	2	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	20253750	123595133	35543530	29	19425											
CHRM2	1129	broad.mit.edu	37	chr7	136700700	136700700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagaatattgtagcccGcaagattgtgaagatgacta	16	9	10	6	1	0	5	0	2	0	3	0	5	0	5	1	0	2	3	1	0	7	5	rs147228075		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:136700700G>A	ENST00000445907.2	+	3	1616	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.R363H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.R363H|CHRM2_ENST00000402486.3_Missense_Mutation_p.R363H|CHRM2_ENST00000320658.5_Missense_Mutation_p.R363H|CHRM2_ENST00000453373.1_Missense_Mutation_p.R363H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	363					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATTGTAGCCCGCAAGATTGTG	0.468																																						uc003vtf.1																			0		p.A362A(1)|p.A362T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1087-1089)cGc>cAc		Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73	77	76		1088,1088,1088,1088,1088,1088,1088,1088	5.6	1	7	dbSNP_134	76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	CHRM2	NM_000739.2,NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1,NM_001006630.1,NM_001006631.1,NM_001006632.1	29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	363/467,363/467,363/467,363/467,363/467,363/467,363/467,363/467	136700700	1,13005	2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700700G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1088G>A	7.37:g.136700700G>A	ENSP00000399745:p.Arg363His					CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.R363H	p.R363H	NM_001006630	NP_001006633	P08172	ACM2_HUMAN			3	1711	+			363					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1088G>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738046	0.69304	2.27E-4	0.0	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.063289	0.64402	D	0.000005	D	0.82843	0.5125	M	0.88310	2.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	D	0.84998	0.0898	10	0.56958	D	0.05	-13.18	19.5144	0.95157	0.0:0.0:1.0:0.0	.	363	P08172	ACM2_HUMAN	H	363	ENSP00000399745:R363H;ENSP00000415386:R363H;ENSP00000319984:R363H;ENSP00000380733:R363H;ENSP00000384937:R363H;ENSP00000384401:R363H	ENSP00000319984:R363H	R	+	2	0	CHRM2	136351240	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.753000	0.74904	2.618000	0.88619	0.655000	0.94253	CGC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136700700	G	A	136700700	3	1	272	1	0	0	0	0	1	0	0	0	3377	1087	38	1	1090	1	CHRM2	7	136700700	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	13105567	136700700	22437963	30	19426											
EIF3E	3646	broad.mit.edu	37	chr8	109240547	109240547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcgcgacctttggggtgaTtgaagaaaacaaacagagac	15	8	11	7	2	0	4	0	2	0	2	1	6	0	4	1	2	2	0	1	2	5	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:109240547T>C	ENST00000220849.5	-	7	733	c.671A>G	c.(670-672)aAt>aGt	p.N224S	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.N131S|RP11-35G22.1_ENST00000520037.1_RNA	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTGGGGTGATTGAAGAAAAC	0.348																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.3																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(670-672)aAt>aGt		Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.							102	105	104					8																	109240547		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109240547T>C	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.671A>G	8.37:g.109240547T>C	ENSP00000220849:p.Asn224Ser					EIF3E_uc003ymt.3_Missense_Mutation_p.N175S	p.N224S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	699	-			224						Missense_Mutation	SNP	ENST00000220849.5	37	c.671A>G	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167437	0.78339	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.50548	0.74;0.74;0.74	5.36	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.78916	2.43	0.80722	D	1	B;P	0.45672	0.386;0.864	B;P	0.49332	0.091;0.607	T	0.56232	-0.8013	10	0.87932	D	0	-14.1324	8.3037	0.32029	0.0:0.0692:0.1337:0.7971	.	224;224	B2R806;P60228	.;EIF3E_HUMAN	S	224;131;97	ENSP00000220849:N224S;ENSP00000428796:N131S;ENSP00000430839:N97S	ENSP00000220849:N224S	N	-	2	0	EIF3E	109309723	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.997000	0.88414	0.419000	0.25927	0.477000	0.44152	AAT		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		C	109240547	T	C	109240547	3	2	272	1	0	0	0	0	1	0	0	0	5015	1493	52	4	694	4	EIF3E	8	109240547	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		109240547	37123475	31	19427											
BAI1	575	broad.mit.edu	37	chr8	143558906	143558906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgcaacattgccctgtgCcctggtaggtgagagggagg	7	10	15	9	0	1	1	0	1	1	1	1	3	1	2	2	4	4	2	2	4	2	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:143558906C>T	ENST00000517894.1	+	6	2277	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	BAI1_ENST00000323289.5_Silent_p.C461C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	461	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTGCCCTGTGCCCTGGTAGGT	0.657																																						uc003ywm.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1381-1383)tgC>tgT		Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.							35	42	40					8																	143558906		1997	4145	6142	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558906C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1383C>T	8.37:g.143558906C>T							p.C461C	NM_001702	NP_001693	O14514	BAI1_HUMAN			4	1566	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		461			TSP type-1 3.			Silent	SNP	ENST00000517894.1	37	c.1383C>T																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143558906	C	T	143558906	2	4	272	1	0	0	0	0	0	0	0	1	1298	747	26	3		3	BAI1	8	143558906	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	34318359	143558906	2805116	32	19428											
HPSE2	60495	broad.mit.edu	37	chr10	100249842	100249842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgagcataaatccttaGtttgtcccggatcactcggc	9	11	10	11	2	1	1	1	1	0	0	4	2	3	2	2	2	1	3	2	2	3	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:100249842G>A	ENST00000370552.3	-	10	1491	c.1432C>T	c.(1432-1434)Cta>Tta	p.L478L	HPSE2_ENST00000370546.1_Silent_p.L478L|HPSE2_ENST00000404542.1_Silent_p.L366L|HPSE2_ENST00000370549.1_Silent_p.L420L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	478					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAAATCCTTAGTTTGTCCCGG	0.577																																						uc001kpn.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1432-1434)Cta>Tta		Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.							130	122	125					10																	100249842		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249842G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1432C>T	10.37:g.100249842G>A						HPSE2_uc009xwc.2_Silent_p.L478L|HPSE2_uc001kpo.2_Silent_p.L420L|HPSE2_uc009xwd.2_Silent_p.L366L	p.L478L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1505	-			478					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.1432C>T	CCDS7477.1																																																																																				0.577	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100249842	G	A	100249842	2	1	272	1	0	0	0	0	0	0	0	1	7345	1020	36	3		3	HPSE2	10	100249842	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08		100249842	35284905	33	19429											
AP2A2	161	broad.mit.edu	37	chr11	926039	926039	+	Frame_Shift_Del	DEL	G	G	-																															aagatgccggccgtgtccaaGggggacgggatgcggggcct																										TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:926039delG	ENST00000448903.2	+	1	159	c.18delG	c.(16-18)aagfs	p.K6fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K6fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K6fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	6	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGTGTCCAAGGGGGACGGGA	0.771																																						uc001lst.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(16-18)aagfs		Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.							3	4	4					11																	926039		1572	3696	5268	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:926039delG	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.18delG	11.37:g.926039delG	ENSP00000413234:p.Lys6fs					AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K6fs	p.K6fs	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	0	231	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	6			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.18delG	CCDS44512.1																																																																																				0.771	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		-	926039	G	-	926039	7	5	272	1	0	1	0	1	0	0	0	0	740	991	35	0	20	0	AP2A2	11	926039	Frame_Shift_Del	DEL	G	TCGA-76-6285-01A-11D-1696-08		926039	134080477	34	19430											
MUC6	4588	broad.mit.edu	37	chr11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacgtacctgctgcgcGtctcgaagtcgtccttcatg	6	11	10	14	5	2	0	1	0	1	0	5	1	3	0	3	0	4	2	3	0	2	2	rs367909154		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:1025025G>A	ENST00000421673.2	-	24	3094	c.3044C>T	c.(3043-3045)aCg>aTg	p.T1015M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1015	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCTGCGCGTCTCGAAGTC	0.637																																						uc001lsw.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3043-3045)aCg>aTg		Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.		G	MET/THR	1,4253		0,1,2126	48	55	52		3044	3.8	0.4	11		52	0,8446		0,0,4223	no	missense	MUC6	NM_005961.2	81	0,1,6349	AA,AG,GG		0.0,0.0235,0.0079	probably-damaging	1015/2440	1025025	1,12699	2127	4223	6350	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025025G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3044C>T	11.37:g.1025025G>A	ENSP00000406861:p.Thr1015Met						p.T1015M	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	3095	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1015			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3044C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878134	0.33162	2.35E-4	0.0	ENSG00000184956	ENST00000421673	T	0.63580	-0.05	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.79131	0.4394	M	0.79123	2.44	0.40365	D	0.979282	D	0.89917	1.0	D	0.97110	1.0	D	0.83824	0.0248	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1015	Q6W4X9	MUC6_HUMAN	M	1015	ENSP00000406861:T1015M	ENSP00000406861:T1015M	T	-	2	0	MUC6	1015025	1.000000	0.71417	0.370000	0.25965	0.107000	0.19398	6.513000	0.73742	2.124000	0.65301	0.561000	0.74099	ACG		0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1025025	G	A	1025025	3	1	272	1	0	0	0	0	1	0	0	0	9980	1145	40	1	4315	1	MUC6	11	1025025	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	98986	1025025	133981491	35	19431											
NAV2	89797	broad.mit.edu	37	chr11	19955730	19955730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtcgggaccacccagaCcacaggaagcaataccgtca	12	5	10	14	2	2	1	1	0	1	1	3	3	2	3	4	2	2	1	4	2	3	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:19955730C>T	ENST00000396087.3	+	8	2108	c.2009C>T	c.(2008-2010)aCc>aTc	p.T670I	NAV2_ENST00000349880.4_Missense_Mutation_p.T647I|NAV2_ENST00000527559.2_Missense_Mutation_p.T599I|NAV2_ENST00000540292.1_Missense_Mutation_p.T601I|NAV2_ENST00000396085.1_Missense_Mutation_p.T647I|NAV2_ENST00000360655.4_Missense_Mutation_p.T583I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	670					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCACCCAGACCACAGGAAGC	0.582																																						uc010rdm.2																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2008-2010)aCc>aTc		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							105	103	104					11																	19955730		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955730C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2009C>T	11.37:g.19955730C>T	ENSP00000379396:p.Thr670Ile					NAV2_uc001mpp.3_Missense_Mutation_p.T583I|NAV2_uc001mpr.4_Missense_Mutation_p.T647I|NAV2_uc021qew.1_Missense_Mutation_p.T647I	p.T670I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			7	2370	+			670					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2009C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913338	0.52439	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.52	4.6	0.57074	.	0.183165	0.38492	N	0.001661	T	0.17450	0.0419	L	0.40543	1.245	0.80722	D	1	B;P	0.38440	0.127;0.631	B;P	0.45167	0.398;0.472	T	0.02877	-1.1099	9	.	.	.	.	14.4082	0.67096	0.0:0.7008:0.2992:0.0	.	647;583	Q8IVL1-3;Q8IVL1-4	.;.	I	583;647;647;670;599;601	ENSP00000353871:T583I;ENSP00000379394:T647I;ENSP00000309577:T647I;ENSP00000379396:T670I;ENSP00000435395:T599I;ENSP00000443489:T601I	.	T	+	2	0	NAV2	19912306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.832000	0.48152	1.312000	0.45043	0.563000	0.77884	ACC		0.582	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	19955730	C	T	19955730	3	4	272	1	0	0	0	0	1	0	0	0	10184	507	18	3	2045	3	NAV2	11	19955730	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	18930705	19955730	115050786	36	19432											
CHRDL2	25884	broad.mit.edu	37	chr11	74429781	74429781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctctgagcaggtacagCgcaggcagtacatcaggcct	10	7	11	13	1	2	1	1	1	1	0	2	1	2	1	2	3	5	5	2	3	3	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:74429781C>T	ENST00000376332.3	-	2	675	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CHRDL2_ENST00000263671.5_Missense_Mutation_p.R60H|SNORD43_ENST00000390975.1_RNA|CHRDL2_ENST00000534159.1_5'UTR|MIR4696_ENST00000581431.1_RNA	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	60	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAGGTACAGCGCAGGCAGTA	0.597																																						uc001ovh.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(178-180)cGc>cAc		Homo sapiens chordin-like 2 (CHRDL2), mRNA.							76	58	64					11																	74429781		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74429781C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.179G>A	11.37:g.74429781C>T	ENSP00000365510:p.Arg60His					CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	p.R60H	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN			1	432	-	Hepatocellular(1;0.098)		60			VWFC 1.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.179G>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.668203	0.88348	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	T;T;T	0.72051	-0.62;-0.62;-0.62	5.47	5.47	0.80525	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	L	0.44542	1.39	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.76836	-0.2812	10	0.35671	T	0.21	-37.3626	16.8041	0.85621	0.0:1.0:0.0:0.0	.	60;60;60	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	H	60	ENSP00000263671:R60H;ENSP00000365510:R60H;ENSP00000431380:R60H	ENSP00000263671:R60H	R	-	2	0	CHRDL2	74107429	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.751000	0.55165	2.572000	0.86782	0.561000	0.74099	CGC		0.597	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			T	74429781	C	T	74429781	3	4	272	1	0	0	0	0	1	0	0	0	3374	768	27	1	1220	1	CHRDL2	11	74429781	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	54474051	74429781	60576735	37	19433											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658397	18658397	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggagggataaaaaggTcagtgcacaaatgtttatta	15	12	10	4	0	1	0	1	0	0	0	1	2	1	2	0	3	1	2	0	3	6	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:18658397T>C	ENST00000266497.5	+	22	3238		c.e22+2		PIK3C2G_ENST00000433979.1_Splice_Site|PIK3C2G_ENST00000538779.1_Splice_Site			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma						chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATAAAAAGGTCAGTGCACAA	0.368																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.e23+2		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							58	52	54					12																	18658397		1869	4113	5982	SO:0001630	splice_region_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658397T>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3200+2T>C	12.37:g.18658397T>C						PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.2_Splice_Site_p.R886_splice	p.R1067_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN			23	3316	+		Hepatocellular(102;0.194)	1067			PI3K/PI4K.		A1L3U0	Splice_Site	SNP	ENST00000266497.5	37	c.3200_splice	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849464	0.71603	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3583	0.66752	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3C2G	18549664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.556000	0.60775	2.237000	0.73441	0.528000	0.53228	.		0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	Intron	C	18658397	T	C	18658397	5	2	272	1	0	0	0	0	0	0	1	0	11911	1681	58	4	3288	4	PIK3C2G	12	18658397	Splice_Site	SNP	T	TCGA-76-6285-01A-11D-1696-08		18658397	115193498	38	19434											
KRT6B	3854	broad.mit.edu	37	chr12	52841112	52841112	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccaacgccaagaccActgccataggagtagctgct	10	6	9	16	2	0	1	0	0	0	1	1	2	1	2	6	1	4	3	6	1	4	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:52841112A>G	ENST00000252252.3	-	9	1604	c.1557T>C	c.(1555-1557)agT>agC	p.S519S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	519	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGCCAAGACCACTGCCATAGG	0.622																																						uc001sak.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1555-1557)agT>agC		Homo sapiens keratin 6B (KRT6B), mRNA.							64	65	65					12																	52841112		2203	4300	6503	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841112A>G	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1557T>C	12.37:g.52841112A>G							p.S519S	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	8	1605	-			519			Tail.		P48669	Silent	SNP	ENST00000252252.3	37	c.1557T>C	CCDS8828.1																																																																																				0.622	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		G	52841112	A	G	52841112	2	3	272	1	0	0	0	0	0	0	0	1	8481	156	6	4		4	KRT6B	12	52841112	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08	34182715	52841112	81010783	39	19435											
GPR182	11318	broad.mit.edu	37	chr12	57389618	57389618	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttcatggcaccttttGaaacgtacagcacctgggcc	8	10	9	14	1	2	1	1	1	1	0	2	1	2	1	4	2	3	3	4	2	2	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57389618G>T	ENST00000300098.1	+	2	844	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	209					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGCACCTTTTGAAACGTACAG	0.617																																						uc021qzf.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(625-627)Gaa>Taa		Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.							34	29	31					12																	57389618		2203	4300	6503	SO:0001587	stop_gained	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389618G>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.625G>T	12.37:g.57389618G>T	ENSP00000300098:p.Glu209*					GPR182_uc001smk.3_Nonsense_Mutation_p.E209*	p.E209*	NM_007264	NP_009195	O15218	GP182_HUMAN			0	625	+			209						Nonsense_Mutation	SNP	ENST00000300098.1	37	c.625G>T	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507632	0.85282	.	.	ENSG00000166856	ENST00000300098	.	.	.	3.74	3.74	0.42951	.	0.337620	0.26899	N	0.021935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.3932	0.60834	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000300098:E209X	E	+	1	0	GPR182	55675885	1.000000	0.71417	0.123000	0.21794	0.463000	0.32649	2.363000	0.44178	2.077000	0.62373	0.561000	0.74099	GAA		0.617	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		T	57389618	G	T	57389618	4	4	272	1	0	0	0	0	0	1	0	0	6677	1291	45	5	627	5	GPR182	12	57389618	Nonsense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	4548506	57389618	76462277	40	19436											
RASSF9	9182	broad.mit.edu	37	chr12	86199112	86199112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaacatagttttctccatCattttctactcgatcaagat	11	16	4	10	1	4	2	2	1	2	1	6	3	4	2	1	0	2	1	1	0	4	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:86199112C>G	ENST00000361228.3	-	2	1044	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	226					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCTCCATCATTTTCTACT	0.398																																						uc001taf.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(676-678)Gat>Cat		Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.							157	148	151					12																	86199112		1851	4112	5963	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199112C>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.676G>C	12.37:g.86199112C>G	ENSP00000354884:p.Asp226His						p.D226H	NM_005447	NP_005438	O75901	RASF9_HUMAN			1	1015	-			226					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.676G>C	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937198	0.18206	.	.	ENSG00000198774	ENST00000361228	T	0.38401	1.14	4.84	-0.195	0.13236	.	0.780131	0.11878	N	0.520742	T	0.27027	0.0662	N	0.17800	0.525	0.34519	D	0.70797	P	0.36909	0.573	B	0.43274	0.414	T	0.36529	-0.9744	10	0.40728	T	0.16	-17.4564	8.9422	0.35736	0.0:0.5572:0.0:0.4428	.	226	O75901	RASF9_HUMAN	H	226	ENSP00000354884:D226H	ENSP00000354884:D226H	D	-	1	0	RASSF9	84723243	0.999000	0.42202	0.964000	0.40570	0.931000	0.56810	0.697000	0.25556	-0.255000	0.09486	0.650000	0.86243	GAT		0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			G	86199112	C	G	86199112	3	3	272	1	0	0	0	0	1	0	0	0	13093	826	29	5	635	5	RASSF9	12	86199112	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	28809494	86199112	47652783	41	19437											
NR2C1	7181	broad.mit.edu	37	chr12	95445680	95445680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgctaatgatgtaaccaCattggccaatgtacttaaat	14	13	6	8	1	0	1	0	1	0	0	1	1	0	1	2	1	2	3	2	1	6	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:95445680C>A	ENST00000333003.5	-	8	1153	c.823G>T	c.(823-825)Gtg>Ttg	p.V275L	NR2C1_ENST00000330677.7_Missense_Mutation_p.V275L|NR2C1_ENST00000393101.3_Missense_Mutation_p.V275L|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	275					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GATGTAACCACATTGGCCAAT	0.303																																						uc001tdm.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(823-825)Gtg>Ttg		Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.							67	66	67					12																	95445680		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95445680C>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.823G>T	12.37:g.95445680C>A	ENSP00000333275:p.Val275Leu					NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdn.4_Missense_Mutation_p.V275L|NR2C1_uc001tdo.4_Missense_Mutation_p.V275L	p.V275L	NM_003297	NP_003288	P13056	NR2C1_HUMAN			7	1079	-			275					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.823G>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737646	0.89573	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92249	-3.0;-2.83;-2.83	5.5	5.5	0.81552	Nuclear hormone receptor, ligand-binding (1);	0.107096	0.64402	D	0.000006	D	0.95865	0.8654	M	0.74881	2.28	0.80722	D	1	D;D;P;D	0.67145	0.994;0.996;0.811;0.994	D;D;B;D	0.76071	0.97;0.987;0.353;0.97	D	0.94931	0.8082	10	0.40728	T	0.16	.	19.4055	0.94646	0.0:1.0:0.0:0.0	.	275;275;275;275	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	L	275	ENSP00000333275:V275L;ENSP00000376813:V275L;ENSP00000328843:V275L	ENSP00000328843:V275L	V	-	1	0	NR2C1	93969811	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.340000	0.79292	2.587000	0.87381	0.591000	0.81541	GTG		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		A	95445680	C	A	95445680	3	1	272	1	0	0	0	0	1	0	0	0	10622	478	17	5	1094	5	NR2C1	12	95445680	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	9246568	95445680	38406215	42	19438											
NOS1	4842	broad.mit.edu	37	chr12	117710328	117710328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacacggcggggaggccGtaccacttcagccccaggtc	7	6	14	14	3	1	0	1	0	0	0	2	2	1	2	4	6	2	1	4	6	1	3	rs569838932		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:117710328G>A	ENST00000338101.4	-	9	1705	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	NOS1_ENST00000317775.6_Silent_p.Y567Y|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGGGGAGGCCGTACCACTTCA	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		15187	0		0	False		,,,				2504	0				Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1699-1701)taC>taT		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						46	51	49					12																	117710328		2174	4290	6464	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117710328G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1701C>T	12.37:g.117710328G>A						NOS1_uc021ren.1_Silent_p.Y231Y|NOS1_uc021reo.1_Silent_p.Y231Y|NOS1_uc001twm.2_Silent_p.Y567Y	p.Y567Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	9	2412	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		567						Silent	SNP	ENST00000338101.4	37	c.1701C>T	CCDS55890.1																																																																																				0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117710328	G	A	117710328	2	1	272	1	0	0	0	0	0	0	0	1	10541	1140	40	1		1	NOS1	12	117710328	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	22264648	117710328	16141567	43	19439											
GPR109B	8843	broad.mit.edu	37	chr12	123200222	123200222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttgggcccagataagaggGgctccatggctcaccggagt	8	7	16	10	1	1	2	1	0	0	2	2	3	2	3	3	6	0	3	3	6	1	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:123200222G>A	ENST00000528880.2	-	1	1217	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	355					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AGATAAGAGGGGCTCCATGGC	0.537																																						uc001ucy.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(1063-1065)Ccc>Tcc		Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)						88	95	93					12																	123200222		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200222G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1063C>T	12.37:g.123200222G>A	ENSP00000436714:p.Pro355Ser					HCAR1_uc001ucw.1_Intron	p.P355S	NM_006018	NP_006009	P49019	HCAR3_HUMAN			0	1218	-			355					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.1063C>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.719626	0.30503	.	.	ENSG00000255398	ENST00000528880	T	0.61627	0.09	2.99	0.785	0.18584	.	.	.	.	.	T	0.41858	0.1177	L	0.40543	1.245	0.31647	N	0.64728	B	0.14438	0.01	B	0.11329	0.006	T	0.39272	-0.9622	9	0.28530	T	0.3	.	4.8385	0.13476	0.1325:0.0:0.658:0.2094	.	355	E9PI97	.	S	355	ENSP00000436714:P355S	ENSP00000436714:P355S	P	-	1	0	HCAR3	121766175	0.897000	0.30589	0.383000	0.26132	0.186000	0.23388	0.919000	0.28692	0.527000	0.28560	0.184000	0.17185	CCC		0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		A	123200222	G	A	123200222	3	1	272	1	0	0	0	0	1	0	0	0	6626	1232	43	3	104	3	GPR109B	12	123200222	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	5489894	123200222	10651673	44	19440											
EML5	161436	broad.mit.edu	37	chr14	89130847	89130847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtcttacctctaatatcCcaatcaatatgggttatgta	14	14	5	8	0	3	0	1	0	2	0	4	0	4	0	2	1	1	2	2	1	9	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr14:89130847C>T	ENST00000380664.5	-	23	3398	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	EML5_ENST00000352093.5_Nonsense_Mutation_p.W1095*|EML5_ENST00000554922.1_Nonsense_Mutation_p.W1133*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1133						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCTAATATCCCAATCAATAT	0.308																																						uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3397-3399)tgG>tgA		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.							95	90	92					14																	89130847		1794	4059	5853	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89130847C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3399G>A	14.37:g.89130847C>T	ENSP00000370039:p.Trp1133*					EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Nonsense_Mutation_p.W1133*|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	p.W1133*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			22	3648	-			1133					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.3399G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	44	11.273463	0.99539	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4852	18.4444	0.90678	0.0:1.0:0.0:0.0	.	.	.	.	X	1133;1095;1133	.	ENSP00000298315:W1095X	W	-	3	0	EML5	88200600	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.320000	0.79064	2.588000	0.87417	0.655000	0.94253	TGG		0.308	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89130847	C	T	89130847	4	4	272	1	0	0	0	0	0	1	0	0	5100	624	22	3	2618	3	EML5	14	89130847	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		89130847	18218693	45	19441											
HS3ST4	9951	broad.mit.edu	37	chr16	26147153	26147153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggccttcaaaaacCggaccctcgggctgatcgat	9	8	12	12	3	1	1	1	1	0	0	3	3	1	2	3	4	2	2	3	4	2	1	rs578031781	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:26147153C>T	ENST00000331351.5	+	2	1347	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	319					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTCAAAAACCGGACCCTCGG	0.552													C|||	2	0.000399361	0.0015	0	5008	,	,		17705	0		0	False		,,,				2504	0					uc002dof.3																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(955-957)Cgg>Tgg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.							174	165	168					16																	26147153		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147153C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.955C>T	16.37:g.26147153C>T	ENSP00000330606:p.Arg319Trp						p.R319W	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	1	1347	+			319					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.955C>T	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003460	0.74932	.	.	ENSG00000182601	ENST00000331351	T	0.55760	0.5	5.35	4.39	0.52855	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000011	T	0.72439	0.3460	M	0.83384	2.64	0.58432	D	0.999994	D	0.89917	1.0	D	0.78314	0.991	T	0.75602	-0.3261	10	0.59425	D	0.04	.	11.9895	0.53168	0.3498:0.6501:0.0:0.0	.	319	Q9Y661	HS3S4_HUMAN	W	319	ENSP00000330606:R319W	ENSP00000330606:R319W	R	+	1	2	HS3ST4	26054654	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.538000	0.36094	1.178000	0.42870	0.655000	0.94253	CGG		0.552	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		T	26147153	C	T	26147153	3	4	272	1	0	0	0	0	1	0	0	0	7367	643	23	2	961	2	HS3ST4	16	26147153	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		26147153	64207600	46	19442											
ZNF48	197407	broad.mit.edu	37	chr16	30409831	30409831	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaagtccctcacactcGggtgagccttttggcctgcc	5	10	10	16	2	1	1	1	1	0	0	4	2	2	1	5	2	2	0	5	2	1	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:30409831G>C	ENST00000320159.2	+	2	1636	c.1260G>C	c.(1258-1260)tcG>tcC	p.S420S	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	420	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S420S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTCACACTCGGGTGAGCCTT	0.692																																						uc002dya.2																			1	Substitution - coding silent(1)	p.S420S(2)|p.S420L(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1258-1260)tcG>tcC		Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.							23	26	25					16																	30409831		2193	4294	6487	SO:0001819	synonymous_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409831G>C	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1260G>C	16.37:g.30409831G>C						ZNF48_uc021tgi.1_Silent_p.S420S|ZNF48_uc021tgj.1_Silent_p.S297S|ZNF48_uc021tgk.1_Silent_p.S420S	p.S420S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN			1	1636	+			420			Pro-rich.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	ENST00000320159.2	37	c.1260G>C	CCDS10679.1																																																																																				0.692	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		C	30409831	G	C	30409831	2	2	272	1	0	0	0	0	0	0	0	1	17931	1103	39	5		5	ZNF48	16	30409831	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	4262678	30409831	59944922	47	19443											
SHPK	23729	broad.mit.edu	37	chr17	3524530	3524530	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaacaaaagaaaaacttaCctgcatctgtcctctgggcc	14	8	7	12	0	2	2	0	0	2	2	3	2	3	2	3	1	4	1	3	1	6	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:3524530C>T	ENST00000225519.3	-	5	926		c.e5+1			NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase						carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAAAAACTTACCTGCATCTGT	0.522																																						uc002fvz.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e5+1		Homo sapiens sedoheptulokinase (SHPK), mRNA.							33	30	31					17																	3524530		2202	4300	6502	SO:0001630	splice_region_variant	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3524530C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.823+1G>A	17.37:g.3524530C>T							p.V275_splice	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	5	926	-			275					B2R640|Q8WUH3	Splice_Site	SNP	ENST00000225519.3	37	c.823_splice	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782646	0.49891	.	.	ENSG00000197417	ENST00000225519	.	.	.	4.75	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5991	0.62010	0.1565:0.8435:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPK	3471279	1.000000	0.71417	0.976000	0.42696	0.543000	0.35085	6.924000	0.75823	1.107000	0.41642	0.655000	0.94253	.		0.522	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		Intron	T	3524530	C	T	3524530	5	4	272	1	0	0	0	0	0	0	1	0	14290	521	18	3	624	3	SHPK	17	3524530	Splice_Site	SNP	C	TCGA-76-6285-01A-11D-1696-08		3524530	77670680	48	19444											
ACACA	31	broad.mit.edu	37	chr17	35631152	35631152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaacatttaagatacGttttgaaaaatcattttcct	13	15	7	6	1	1	2	1	1	0	1	2	3	2	3	1	2	2	1	1	2	5	7			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:35631152G>A	ENST00000394406.2	-	9	1019	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	ACACA_ENST00000335166.5_Missense_Mutation_p.R199C|ACACA_ENST00000353139.5_Missense_Mutation_p.R314C|ACACA_ENST00000360679.3_Missense_Mutation_p.R219C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	277	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTAAGATACGTTTTGAAAAA	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(829-831)Cgt>Tgt		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						142	124	130					17																	35631152		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35631152G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.829C>T	17.37:g.35631152G>A	ENSP00000377928:p.Arg277Cys					ACACA_uc002hnk.3_Missense_Mutation_p.R199C|ACACA_uc002hnl.3_Missense_Mutation_p.R219C|ACACA_uc002hnn.3_Missense_Mutation_p.R277C|ACACA_uc002hno.3_Missense_Mutation_p.R314C|ACACA_uc010cuz.3_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	p.R277C	NM_198836	NP_942135	Q13085	ACACA_HUMAN			8	1020	-		Breast(25;0.00157)|Ovarian(249;0.15)	277			ATP-grasp.|Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.829C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.178013	0.57692	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.96	5.96	0.96718	ATP-grasp fold (1);Biotin carboxylation domain (1);	0.173464	0.56097	D	0.000033	D	0.96775	0.8947	N	0.19112	0.55	0.80722	D	1	D;B;B	0.65815	0.995;0.02;0.208	P;B;B	0.54924	0.764;0.001;0.007	D	0.97250	0.9897	10	0.62326	D	0.03	-10.3146	20.4192	0.99033	0.0:0.0:1.0:0.0	.	314;277;219	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	314;219;277;301;199;199	ENSP00000344789:R314C;ENSP00000353898:R219C;ENSP00000377928:R277C;ENSP00000335323:R199C	ENSP00000335323:R199C	R	-	1	0	ACACA	32705265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.533000	0.53561	2.831000	0.97527	0.650000	0.86243	CGT		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		A	35631152	G	A	35631152	3	1	272	1	0	0	0	0	1	0	0	0	106	1145	40	1	6403	1	ACACA	17	35631152	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	32106622	35631152	45564058	49	19445											
AOC2	314	broad.mit.edu	37	chr17	40997352	40997352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttttccttcaccccGtggggctggagctactactg	4	14	11	12	1	2	0	1	0	1	0	3	1	3	1	3	4	3	2	3	4	2	6	rs577504737		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:40997352G>A	ENST00000253799.3	+	1	736	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	AOC2_ENST00000452774.2_Missense_Mutation_p.V237M	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	237					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCACCCCGTGGGGCTGGA	0.612													G|||	1	0.000199681	0	0	5008	,	,		18454	0		0.001	False		,,,				2504	0					uc002ibu.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(709-711)Gtg>Atg		Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.							64	61	62					17																	40997352		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997352G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.709G>A	17.37:g.40997352G>A	ENSP00000253799:p.Val237Met					AOC2_uc002ibt.3_Missense_Mutation_p.V237M	p.V237M	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	0	744	+		Breast(137;0.000143)	237					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.709G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314971	0.60524	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.38722	1.12;1.12	5.29	4.3	0.51218	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.137844	0.49305	D	0.000146	T	0.58722	0.2142	M	0.65975	2.015	0.46185	D	0.998911	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.967	T	0.59695	-0.7406	10	0.56958	D	0.05	-49.6893	9.3241	0.37982	0.0758:0.1461:0.7781:0.0	.	237;237	O75106;O75106-2	AOC2_HUMAN;.	M	237	ENSP00000253799:V237M;ENSP00000406134:V237M	ENSP00000253799:V237M	V	+	1	0	AOC2	38250878	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	5.529000	0.67135	1.203000	0.43233	0.561000	0.74099	GTG		0.612	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		A	40997352	G	A	40997352	3	1	272	1	0	0	0	0	1	0	0	0	727	1145	40	1	711	1	AOC2	17	40997352	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	5366200	40997352	40197858	50	19446											
MYO5B	4645	broad.mit.edu	37	chr18	47463738	47463738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaacagggtccttgtcAtcatgaaacaagtcagccac	13	7	10	11	0	3	1	3	1	0	0	4	2	4	2	2	2	3	1	2	2	3	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr18:47463738A>G	ENST00000285039.7	-	15	2081	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	594	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGTCCTTGTCATCATGAAACA	0.507																																						uc002leb.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1780-1782)gaT>gaC		Homo sapiens myosin VB (MYO5B), mRNA.							54	56	55					18																	47463738		1991	4177	6168	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47463738A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1782T>C	18.37:g.47463738A>G						MYO5B_uc021ukb.1_Silent_p.D593D	p.D594D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	14	2070	-			594			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.1782T>C	CCDS42436.1																																																																																				0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			G	47463738	A	G	47463738	2	3	272	1	0	0	0	0	0	0	0	1	10079	214	8	4		4	MYO5B	18	47463738	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08		47463738	30613510	51	19447											
MIDN	90007	broad.mit.edu	37	chr19	1257154	1257154	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggccgcagcgacagcagTagcagcgggggcggcggcag	7	1	20	13	6	0	0	0	0	0	0	0	1	0	0	2	5	4	5	2	5	1	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:1257154T>G	ENST00000591446.2	+	7	1699	c.1290T>G	c.(1288-1290)agT>agG	p.S430R	MIDN_ENST00000300952.2_Missense_Mutation_p.S430R|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	430						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGACAGCAGTAGCAGCGGGG	0.682																																						uc002lrp.3																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1288-1290)agT>agG		Homo sapiens midnolin (MIDN), mRNA.							22	26	25					19																	1257154		2189	4267	6456	SO:0001583	missense	90007					nucleolus		g.chr19:1257154T>G	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1290T>G	19.37:g.1257154T>G	ENSP00000467679:p.Ser430Arg						p.S430R	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1805	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	430					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1290T>G	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	t	10.15	1.270133	0.23221	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.35	-1.52	0.08637	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.27436	N	0.953879	B	0.23058	0.079	B	0.25884	0.064	T	0.22941	-1.0202	8	0.33141	T	0.24	-8.4924	7.3839	0.26872	0.0:0.5721:0.0:0.4279	.	430	Q504T8	MIDN_HUMAN	R	430	.	ENSP00000300952:S430R	S	+	3	2	MIDN	1208154	0.999000	0.42202	0.014000	0.15608	0.024000	0.10985	0.648000	0.24828	-0.477000	0.06832	-0.423000	0.05987	AGT		0.682	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			G	1257154	T	G	1257154	3	3	272	1	0	0	0	0	1	0	0	0	9579	1635	57	5	1316	5	MIDN	19	1257154	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		1257154	57871829	52	19448											
ZNF492	57615	broad.mit.edu	37	chr19	22846866	22846866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaattcaaacagacataCgataagacatactggaaaga	20	8	6	7	1	2	3	2	0	0	3	2	5	2	4	0	1	3	0	0	1	6	5	rs376885920		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:22846866C>T	ENST00000456783.2	+	4	639	c.395C>T	c.(394-396)aCg>aTg	p.T132M	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AACAGACATACGATAAGACAT	0.308																																						uc002nqw.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(394-396)aCg>aTg		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.		A	MET/THR	0,4206		0,0,2103	36	38	37		395	1.5	0	19		37	1,8507		0,1,4253	no	missense	ZNF492	NM_020855.2	81	0,1,6356	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	132/532	22846866	1,12713	2103	4254	6357	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846866C>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.395C>T	19.37:g.22846866C>T	ENSP00000413660:p.Thr132Met						p.T132M	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	639	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	132					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.395C>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.174	1.021830	0.19433	0.0	1.18E-4	ENSG00000229676	ENST00000456783	T	0.15952	2.38	1.47	1.47	0.22746	.	.	.	.	.	T	0.04272	0.0118	N	0.01076	-1.035	0.09310	N	1	P	0.36874	0.572	B	0.26614	0.071	T	0.31364	-0.9946	9	0.87932	D	0	.	5.3151	0.15850	0.704:0.296:0.0:0.0	.	132	Q9P255	ZN492_HUMAN	M	132	ENSP00000413660:T132M	ENSP00000413660:T132M	T	+	2	0	ZNF492	22638706	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-5.025000	0.00159	-0.325000	0.08577	-0.681000	0.03757	ACG		0.308	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		T	22846866	C	T	22846866	3	4	272	1	0	0	0	0	1	0	0	0	17940	536	19	1	405	1	ZNF492	19	22846866	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	21589712	22846866	36282117	53	19449											
LTBP4	8425	broad.mit.edu	37	chr19	41129963	41129963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctcgcagcgccgctgcGtctccaacgagagccagagc	8	5	13	15	5	1	2	0	0	1	2	3	3	1	2	3	1	5	3	3	1	1	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:41129963G>C	ENST00000308370.7	+	30	4006	c.4006G>C	c.(4006-4008)Gtc>Ctc	p.V1336L	LTBP4_ENST00000396819.3_Missense_Mutation_p.V1269L|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.V704L|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1299L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1337	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCGCTGCGTCTCCAACGA	0.682																																						uc002ooh.1																			0				central_nervous_system(1)	1						c.(4006-4008)Gtc>Ctc		Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.							14	19	18					19																	41129963		1994	4149	6143	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41129963G>C	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4006G>C	19.37:g.41129963G>C	ENSP00000311905:p.Val1336Leu					LTBP4_uc002oog.1_Missense_Mutation_p.V1299L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1269L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	p.V1336L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		29	4006	+			1337			EGF-like 14; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4006G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.126452	0.94429	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.41	4.41	0.53225	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.35235	N	0.003345	D	0.88418	0.6431	.	.	.	0.54753	D	0.99998	D;D;P;P;D;D	0.67145	0.996;0.959;0.931;0.832;0.96;0.96	D;D;D;B;P;P	0.74674	0.984;0.959;0.911;0.254;0.491;0.491	D	0.87861	0.2664	9	0.37606	T	0.19	.	15.9091	0.79456	0.0:0.0:1.0:0.0	.	97;349;557;1269;1337;1299	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	L	1299;704;1336;1269;97	ENSP00000204005:V1299L;ENSP00000441054:V704L;ENSP00000311905:V1336L;ENSP00000380031:V1269L	ENSP00000204005:V1299L	V	+	1	0	LTBP4	45821803	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.046000	0.64226	2.294000	0.77228	0.462000	0.41574	GTC		0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		C	41129963	G	C	41129963	3	2	272	1	0	0	0	0	1	0	0	0	9076	1145	40	5	4415	5	LTBP4	19	41129963	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	18283097	41129963	17999020	54	19450											
TGM3	7053	broad.mit.edu	37	chr20	2298127	2298127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacaagggtagtgatagcGtatggtaagtatctcacctt	11	12	12	6	1	1	1	1	1	1	0	2	2	1	2	1	3	1	4	1	3	6	6	rs370121854		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:2298127G>A	ENST00000381458.5	+	7	1042	c.979G>A	c.(979-981)Gta>Ata	p.V327I	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	327					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGTGATAGCGTATGGTAAGT	0.507																																						uc002wfx.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(979-981)Gta>Ata		Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	L-Glutamine(DB00130)	G	ILE/VAL	0,4406		0,0,2203	189	177	181		979	0	0	20		181	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM3	NM_003245.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	327/694	2298127	2,13004	2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2298127G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.979G>A	20.37:g.2298127G>A	ENSP00000370867:p.Val327Ile						p.V327I	NM_003245	NP_003236	Q08188	TGM3_HUMAN			6	1076	+			327					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.979G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.573963	0.00887	0.0	2.33E-4	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.48201	0.82	5.29	-0.0268	0.13929	Transglutaminase-like (2);	0.120124	0.56097	N	0.000031	T	0.22742	0.0549	N	0.13168	0.305	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.25293	-1.0136	10	0.07813	T	0.8	.	8.8451	0.35166	0.4747:0.0:0.5253:0.0	.	327	Q08188	TGM3_HUMAN	I	327	ENSP00000370867:V327I	ENSP00000370867:V327I	V	+	1	0	TGM3	2246127	0.018000	0.18449	0.002000	0.10522	0.005000	0.04900	0.290000	0.18975	0.109000	0.17891	-0.812000	0.03155	GTA		0.507	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		A	2298127	G	A	2298127	3	1	272	1	0	0	0	0	1	0	0	0	15828	1145	40	1	1005	1	TGM3	20	2298127	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		2298127	60727393	55	19451											
CRNKL1	51340	broad.mit.edu	37	chr20	20033098	20033098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaacaggatctcggaacCggaagcggaacttgcaggac	15	4	12	10	3	1	0	0	0	1	0	2	5	1	5	1	5	6	1	1	5	5	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:20033098C>T	ENST00000377340.2	-	2	403	c.372G>A	c.(370-372)ccG>ccA	p.P124P	CRNKL1_ENST00000536226.1_5'UTR|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000389656.3_5'Flank|CRNKL1_ENST00000377327.4_Silent_p.P112P|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	124					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATCTCGGAACCGGAAGCGGAA	0.592																																						uc002wrs.3																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(370-372)ccG>ccA		Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.							78	79	79					20																	20033098		2203	4300	6503	SO:0001819	synonymous_variant	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033098C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.372G>A	20.37:g.20033098C>T						C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	p.P124P	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			1	404	-			124					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	c.372G>A	CCDS33446.1																																																																																				0.592	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			T	20033098	C	T	20033098	2	4	272	1	0	0	0	0	0	0	0	1	3891	639	23	2		2	CRNKL1	20	20033098	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	17734971	20033098	42992422	56	19452											
CD93	22918	broad.mit.edu	37	chr20	23065129	23065129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgttttgtgtggccacGgaggagtccccacctgcagg	5	11	14	11	2	0	0	0	0	0	0	2	2	1	2	4	4	1	3	4	4	0	3	rs546513788		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:23065129G>A	ENST00000246006.4	-	1	1848	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	567					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTGGCCACGGAGGAGTCCC	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		15013	0		0	False		,,,				2504	0					uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1699-1701)tcC>tcT		Homo sapiens CD93 molecule (CD93), mRNA.							92	91	91					20																	23065129		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065129G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1701C>T	20.37:g.23065129G>A							p.S567S	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	1849	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		567					O00274	Silent	SNP	ENST00000246006.4	37	c.1701C>T	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23065129	G	A	23065129	2	1	272	1	0	0	0	0	0	0	0	1	3047	1103	39	2		2	CD93	20	23065129	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	3032031	23065129	39960391	57	19453											
BPIL1	80341	broad.mit.edu	37	chr20	31596448	31596448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtcggtgcctccacgcCaggcaccgtggtccgactca	5	7	13	16	5	1	0	1	0	0	0	4	1	3	0	5	4	1	1	5	4	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:31596448C>T	ENST00000170150.3	+	2	263	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	23						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCCTCCACGCCAGGCACCGTG	0.622																																						uc002wyj.3																			0											c.(67-69)cCa>cTa		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.							54	44	47					20																	31596448		2203	4299	6502	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31596448C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.68C>T	20.37:g.31596448C>T	ENSP00000170150:p.Pro23Leu						p.P23L	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			1	262	+			23					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.68C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035596	0.54896	.	.	ENSG00000078898	ENST00000170150	T	0.08634	3.07	5.03	3.09	0.35607	.	0.287471	0.25166	N	0.032622	T	0.07234	0.0183	L	0.34521	1.04	0.22330	N	0.9992	B	0.21225	0.053	B	0.22152	0.038	T	0.27365	-1.0076	10	0.87932	D	0	-16.1913	8.2599	0.31779	0.0:0.8117:0.0:0.1883	.	23	Q8N4F0	BPIB2_HUMAN	L	23	ENSP00000170150:P23L	ENSP00000170150:P23L	P	+	2	0	BPIFB2	31060109	0.006000	0.16342	0.024000	0.17045	0.058000	0.15608	1.206000	0.32321	0.794000	0.33899	0.650000	0.86243	CCA		0.622	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		T	31596448	C	T	31596448	3	4	272	1	0	0	0	0	1	0	0	0	1491	594	21	3	70	3	BPIL1	20	31596448	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	8531319	31596448	31429072	58	19454											
PREX1	57580	broad.mit.edu	37	chr20	47262489	47262489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccatggtcactccTgtccatctcgctctcttcac	5	12	6	18	1	4	0	2	0	2	0	8	1	6	0	4	1	1	1	4	1	0	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:47262489T>C	ENST00000371941.3	-	26	3434	c.3412A>G	c.(3412-3414)Agg>Ggg	p.R1138G	PREX1_ENST00000396220.1_Missense_Mutation_p.R1138G	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1138					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGTCACTCCTGTCCATCTCG	0.617																																						uc002xtw.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3412-3414)Agg>Ggg		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							129	93	105					20																	47262489		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47262489T>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3412A>G	20.37:g.47262489T>C	ENSP00000361009:p.Arg1138Gly					PREX1_uc002xtv.1_Missense_Mutation_p.R435G	p.R1138G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		25	3435	-			1138					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3412A>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779854	0.49891	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63096	0.01;-0.02	4.8	0.986	0.19784	.	0.097212	0.41605	U	0.000842	T	0.45935	0.1367	N	0.14661	0.345	0.29782	N	0.833944	P;P	0.44429	0.616;0.835	B;B	0.42771	0.199;0.397	T	0.52162	-0.8612	10	0.87932	D	0	.	12.6079	0.56532	0.0:0.0:0.3975:0.6025	.	1138;435	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	G	1138	ENSP00000361009:R1138G;ENSP00000379522:R1138G	ENSP00000361009:R1138G	R	-	1	2	PREX1	46695896	1.000000	0.71417	0.940000	0.37924	0.398000	0.30690	2.529000	0.45632	-0.048000	0.13401	-0.313000	0.08912	AGG		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47262489	T	C	47262489	3	2	272	1	0	0	0	0	1	0	0	0	12476	1579	55	4	1627	4	PREX1	20	47262489	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08	15666041	47262489	15763031	59	19455											
PRIC285	85441	broad.mit.edu	37	chr20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagccgctcctgccGcacaggccccgggcaccacg	6	3	12	20	4	0	0	0	0	0	0	1	0	1	0	6	2	4	5	6	2	0	0	rs374824256		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:62197056G>A	ENST00000467148.1	-	8	3188	c.3119C>T	c.(3118-3120)gCg>gTg	p.A1040V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A471V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1040	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGCTCCTGCCGCACAGGCCCC	0.687																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(3118-3120)gCg>gTg		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	1,4391		0,1,2195	34	30	31		3119,1412	-3.4	0	20		31	0,8588		0,0,4294	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	64,64	0,1,6489	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	1040/2650,471/2081	62197056	1,12979	2196	4294	6490	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62197056G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3119C>T	20.37:g.62197056G>A	ENSP00000417401:p.Ala1040Val					PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	p.A1040V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		8	4011	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1040			Ala-rich.		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3119C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	6.987	0.552285	0.13374	2.28E-4	0.0	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80566	-1.39;-1.27	2.69	-3.4	0.04853	.	2.055150	0.02770	N	0.119638	T	0.57198	0.2037	N	0.03608	-0.345	0.09310	N	1	B;B	0.20550	0.046;0.019	B;B	0.14578	0.009;0.011	T	0.47058	-0.9146	10	0.29301	T	0.29	-0.0712	5.3651	0.16109	0.4134:0.2578:0.3288:0.0	.	1040;471	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	471;1040	ENSP00000393257:A471V;ENSP00000417401:A1040V	ENSP00000393257:A471V	A	-	2	0	RP4-697K14.7	61667500	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.247000	0.02893	-0.794000	0.04468	-0.657000	0.03884	GCG		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62197056	G	A	62197056	3	1	272	1	0	0	0	0	1	0	0	0	12485	1087	38	1	4878	1	PRIC285	20	62197056	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	14934567	62197056	828464	60	19456											
IL17RA	23765	broad.mit.edu	37	chr22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgctggtgggctccGtcatcctgctcatcgtctgc	3	12	10	16	2	3	0	2	0	1	0	7	0	6	0	4	2	3	3	4	2	0	0	rs138404135		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:17586805G>A	ENST00000319363.6	+	11	1139	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	336					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607																																						uc002zly.3																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1006-1008)Gtc>Atc		Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.		G	ILE/VAL	0,4406		0,0,2203	103	78	86		1006	3.1	0.4	22	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IL17RA	NM_014339.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	336/867	17586805	1,13005	2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586805G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1006G>A	22.37:g.17586805G>A	ENSP00000320936:p.Val336Ile						p.V336I	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	10	1137	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	336					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1006G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841411	0.16963	0.0	1.16E-4	ENSG00000177663	ENST00000319363	T	0.07908	3.15	5.21	3.14	0.36123	.	0.471285	0.19514	N	0.112442	T	0.08447	0.0210	M	0.76574	2.34	0.20975	N	0.999812	P	0.48230	0.907	B	0.30316	0.114	T	0.29579	-1.0007	10	0.41790	T	0.15	-22.412	9.163	0.37035	0.1677:0.0:0.8323:0.0	.	336	Q96F46	I17RA_HUMAN	I	336	ENSP00000320936:V336I	ENSP00000320936:V336I	V	+	1	0	IL17RA	15966805	0.983000	0.35010	0.422000	0.26621	0.063000	0.16089	1.898000	0.39809	0.599000	0.29845	0.561000	0.74099	GTC		0.607	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		A	17586805	G	A	17586805	3	1	272	1	0	0	0	0	1	0	0	0	7639	1145	40	1	1048	1	IL17RA	22	17586805	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		17586805	33717761	61	19457											
MYO18B	84700	broad.mit.edu	37	chr22	26159232	26159232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagagccctccaccatcctCgccccctcctcttttctctg	5	11	4	21	1	2	1	0	0	2	1	7	1	5	1	7	0	1	0	7	0	1	2	rs79294358	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:26159232C>T	ENST00000407587.2	+	3	243	c.74C>T	c.(73-75)tCg>tTg	p.S25L	MYO18B_ENST00000536101.1_Missense_Mutation_p.S25L|MYO18B_ENST00000335473.7_Missense_Mutation_p.S25L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	25						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACCATCCTCGCCCCCTCCT	0.542													C|||	8	0.00159744	0	0	5008	,	,		19700	0.0079		0	False		,,,				2504	0					uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(73-75)tCg>tTg		Homo sapiens myosin XVIIIB (MYO18B), mRNA.		C	LEU/SER	1,3793		0,1,1896	37	40	39		74	5.1	1	22	dbSNP_131	39	0,8220		0,0,4110	yes	missense	MYO18B	NM_032608.5	145	0,1,6006	TT,TC,CC		0.0,0.0264,0.0083	probably-damaging	25/2568	26159232	1,12013	1897	4110	6007	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26159232C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.74C>T	22.37:g.26159232C>T	ENSP00000386096:p.Ser25Leu					MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	p.S25L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			2	324	+			25					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.74C>T		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	18.38	3.611027	0.66558	2.64E-4	0.0	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87650	-2.26;-2.26;-2.28	5.09	5.09	0.68999	.	0.000000	0.35013	N	0.003502	D	0.89942	0.6861	M	0.65975	2.015	0.33899	D	0.638286	D	0.89917	1.0	D	0.72338	0.977	D	0.93595	0.6925	10	0.87932	D	0	.	15.5718	0.76345	0.0:1.0:0.0:0.0	.	25	F5GYU7	.	L	25	ENSP00000441229:S25L;ENSP00000334563:S25L;ENSP00000386096:S25L	ENSP00000334563:S25L	S	+	2	0	MYO18B	24489232	0.995000	0.38212	1.000000	0.80357	0.392000	0.30506	4.291000	0.59025	2.531000	0.85337	0.467000	0.42956	TCG		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26159232	C	T	26159232	3	4	272	1	0	0	0	0	1	0	0	0	10066	893	31	2	80	2	MYO18B	22	26159232	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	8572427	26159232	25145334	62	19458											
FAM109B	150368	broad.mit.edu	37	chr22	42473575	42473575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttgccatctgctttgatgCccctggagtgcgcccacacc	5	11	9	16	1	1	1	0	1	1	0	1	2	1	2	5	1	4	1	5	1	0	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:42473575C>G	ENST00000321753.3	+	3	465	c.278C>G	c.(277-279)gCc>gGc	p.A93G	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						TGCTTTGATGCCCCTGGAGTG	0.682																																						uc003bbz.3																			0				endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						c.(277-279)gCc>gGc		Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.							78	82	80					22																	42473575		2203	4300	6503	SO:0001583	missense	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473575C>G	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"Pleckstrin homology (PH) domain containing"	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.278C>G	22.37:g.42473575C>G	ENSP00000312753:p.Ala93Gly					FAM109B_uc021wqi.1_Missense_Mutation_p.A93G|C22orf32_uc003bca.3_5'Flank	p.A93G	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN			2	465	+			93			PH.		Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	c.278C>G	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207759	0.06180	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.75154	-0.91;-0.91	5.01	1.44	0.22558	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.459233	0.24054	N	0.041975	T	0.25827	0.0629	N	0.00182	-1.905	0.30652	N	0.755347	B	0.12013	0.005	B	0.12156	0.007	T	0.45396	-0.9264	10	0.02654	T	1	-13.4868	2.2003	0.03921	0.1386:0.3395:0.339:0.1829	.	93	Q6ICB4	SESQ2_HUMAN	G	93	ENSP00000312753:A93G;ENSP00000396170:A93G	ENSP00000312753:A93G	A	+	2	0	FAM109B	40803521	0.999000	0.42202	0.993000	0.49108	0.113000	0.19764	3.131000	0.50515	0.994000	0.38892	-0.345000	0.07892	GCC		0.682	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		G	42473575	C	G	42473575	3	3	272	1	0	0	0	0	1	0	0	0	5395	739	26	5	280	5	FAM109B	22	42473575	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	16314343	42473575	8830991	63	19459											
USP51	158880	broad.mit.edu	37	chrX	55514642	55514642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagacaagagtggagtctgTtcatatgggtactacatacg	13	10	12	6	1	2	2	1	0	1	2	2	4	2	3	0	2	3	2	0	2	5	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:55514642T>C	ENST00000500968.3	-	2	813	c.731A>G	c.(730-732)aAc>aGc	p.N244S	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	244					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTGGAGTCTGTTCATATGGGT	0.448																																						uc022bxu.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(730-732)aAc>aGc		Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.							146	128	134					X																	55514642		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514642T>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.731A>G	X.37:g.55514642T>C	ENSP00000423333:p.Asn244Ser					USP51_uc004dun.2_Missense_Mutation_p.N244S	p.N244S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			0	731	-			244					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.731A>G	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	8.064	0.768742	0.15983	.	.	ENSG00000247746	ENST00000500968	T	0.41400	1.0	3.18	2.02	0.26589	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.577562	0.16975	U	0.191943	T	0.25382	0.0617	N	0.16307	0.4	0.46849	D	0.999227	B	0.32968	0.392	B	0.37989	0.262	T	0.03684	-1.1013	10	0.25751	T	0.34	.	5.8446	0.18659	0.0:0.1391:0.0:0.8609	.	244	Q70EK9	UBP51_HUMAN	S	244	ENSP00000423333:N244S	ENSP00000423333:N244S	N	-	2	0	USP51	55531367	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.977000	0.49297	0.479000	0.27511	0.408000	0.27601	AAC		0.448	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		C	55514642	T	C	55514642	3	2	272	1	0	0	0	0	1	0	0	0	17080	1725	60	4	1408	4	USP51	23	55514642	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		55514642	99755918	64	19460											
POF1B	79983	broad.mit.edu	37	chrX	84562214	84562214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatgccaagagttcttcGtactcttttaattgagtgtc	9	16	8	8	1	2	3	0	2	2	1	4	3	2	3	1	0	2	2	1	0	3	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:84562214G>A	ENST00000262753.4	-	11	1264	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	POF1B_ENST00000373145.3_Silent_p.Y373Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	373						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGTTCTTCGTACTCTTTTA	0.333																																						uc004eer.2																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1117-1119)taC>taT		Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.							127	96	106					X																	84562214		2202	4298	6500	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84562214G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1119C>T	X.37:g.84562214G>A						POF1B_uc004ees.3_Silent_p.Y373Y	p.Y373Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			10	1265	-			373					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.1119C>T	CCDS14452.1																																																																																				0.333	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		A	84562214	G	A	84562214	2	1	272	1	0	0	0	0	0	0	0	1	12182	1140	40	1		1	POF1B	23	84562214	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	29047572	84562214	70708346	65	19461											
TTC4	7268	broad.mit.edu	37	chr1	55207175	55207175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggggagaaaggtgtacCagatacgatgactaagccag	13	6	14	8	2	0	3	0	1	0	2	1	5	1	3	3	3	3	1	3	3	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:55207175C>G	ENST00000371281.3	+	10	1240	c.1153C>G	c.(1153-1155)Cag>Gag	p.Q385E	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	385										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAAGGTGTACCAGATACGATG	0.517																																						uc001cxv.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(1186-1188)Cag>Gag		Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.							87	90	89					1																	55207175		2203	4300	6503	SO:0001583	missense	7268						binding	g.chr1:55207175C>G		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1153C>G	1.37:g.55207175C>G	ENSP00000360329:p.Gln385Glu					HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.Q385E	p.Q396E			O95801	TTC4_HUMAN			9	1318	+			385					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.1186C>G	CCDS596.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947407	0.34377	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.13538	2.58	5.1	3.07	0.35406	.	.	.	.	.	T	0.11879	0.0289	L	0.44542	1.39	0.20926	N	0.99983	B;B	0.23185	0.026;0.081	B;B	0.16289	0.01;0.015	T	0.22277	-1.0221	9	0.62326	D	0.03	-0.7479	6.6933	0.23185	0.2241:0.6858:0.0:0.0901	.	385;396	O95801;Q5TA95	TTC4_HUMAN;.	E	385;396	ENSP00000360329:Q385E	ENSP00000360329:Q385E	Q	+	1	0	TTC4	54979763	1.000000	0.71417	0.997000	0.53966	0.696000	0.40369	1.155000	0.31700	0.697000	0.31718	0.655000	0.94253	CAG		0.517	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		G	55207175	C	G	55207175	3	3	273	1	0	0	0	0	1	0	0	0	16707	595	21	5	1191	5	TTC4	1	55207175	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08		55207175	194043446	1	19462											
RPE65	6121	broad.mit.edu	37	chr1	68905261	68905261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctatgaacgtaagatggCttgaatcggtcactgcaggg	11	10	12	8	2	1	3	1	2	0	1	2	3	1	3	1	3	3	3	1	3	5	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:68905261C>A	ENST00000262340.5	-	7	761	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	236					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CGTAAGATGGCTTGAATCGGT	0.403																																						uc001dei.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(706-708)aaG>aaT		Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.							172	164	167					1																	68905261		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68905261C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.708G>T	1.37:g.68905261C>A	ENSP00000262340:p.Lys236Asn						p.K236N	NM_000329	NP_000320	Q16518	RPE65_HUMAN			6	762	-			236					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.708G>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	c	18.94	3.730478	0.69074	.	.	ENSG00000116745	ENST00000262340	D	0.94966	-3.57	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	L	0.58428	1.81	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.93780	0.7083	10	0.27082	T	0.32	-16.1043	20.0816	0.97778	0.0:1.0:0.0:0.0	.	236	Q16518	RPE65_HUMAN	N	236	ENSP00000262340:K236N	ENSP00000262340:K236N	K	-	3	2	RPE65	68677849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.186000	0.32078	2.748000	0.94277	0.645000	0.84053	AAG		0.403	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		A	68905261	C	A	68905261	3	1	273	1	0	0	0	0	1	0	0	0	13545	796	28	5	925	5	RPE65	1	68905261	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	13698086	68905261	180345360	2	19463											
RPRD2	23248	broad.mit.edu	37	chr1	150437160	150437160	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagagagcattctgtcTgcactttccaaaacccagac	12	8	6	15	0	2	2	0	0	2	2	3	3	3	2	4	0	3	2	4	0	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:150437160T>A	ENST00000369068.4	+	10	1573	c.1569T>A	c.(1567-1569)tcT>tcA	p.S523S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.S497S|RPRD2_ENST00000539519.1_Silent_p.S497S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	523	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTCTGTCTGCACTTTCCA	0.502											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wlr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1567-1569)tcT>tcA		Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.							83	91	88					1																	150437160		2016	4170	6186	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150437160T>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1569T>A	1.37:g.150437160T>A			OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1732	RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.4_Silent_p.S497S	p.S523S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			9	1770	+			523			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.1569T>A	CCDS44216.1																																																																																				0.502	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150437160	T	A	150437160	2	1	273	1	0	0	0	0	0	0	0	1	13617	1567	55	5		5	RPRD2	1	150437160	Silent	SNP	T	TCGA-76-6286-01A-11D-1845-08	81531899	150437160	98813461	3	19464											
SLC9A11	284525	broad.mit.edu	37	chr1	173526582	173526582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgtgattacaactcccCatcgccaattatattcataa	14	11	3	13	2	1	1	1	1	0	0	3	1	2	1	4	0	2	0	4	0	6	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:173526582C>G	ENST00000367714.3	-	10	1534	c.1112G>C	c.(1111-1113)tGg>tCg	p.W371S	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.W269S	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	371					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TACAACTCCCCATCGCCAATT	0.368																																						uc001giz.2																			0											c.(1111-1113)tGg>tCg		Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.							136	146	143					1																	173526582		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526582C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1112G>C	1.37:g.173526582C>G	ENSP00000356687:p.Trp371Ser					SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	p.W371S	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			9	1535	-			371					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1112G>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906620	0.33628	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13901	2.55;2.55	5.57	3.66	0.41972	Cation/H+ exchanger (1);	0.131353	0.35555	N	0.003123	T	0.15435	0.0372	M	0.65498	2.005	0.44030	D	0.996757	D	0.89917	1.0	D	0.74023	0.982	T	0.14755	-1.0461	10	0.08381	T	0.77	-7.1631	11.2025	0.48749	0.3337:0.6663:0.0:0.0	.	371	Q5TAH2	S9A11_HUMAN	S	371;269	ENSP00000356687:W371S;ENSP00000445437:W269S	ENSP00000356687:W371S	W	-	2	0	SLC9A11	171793205	0.999000	0.42202	0.975000	0.42487	0.137000	0.21094	1.446000	0.35090	0.682000	0.31407	0.591000	0.81541	TGG		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		G	173526582	C	G	173526582	3	3	273	1	0	0	0	0	1	0	0	0	14711	595	21	5	2338	5	SLC9A11	1	173526582	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	23089422	173526582	75724039	4	19465											
RYR2	6262	broad.mit.edu	37	chr1	237791219	237791219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccatcggcagtatgaCggcattgggggtcttgttcg	5	13	14	9	3	1	1	0	1	1	0	4	1	2	1	1	4	1	5	1	4	1	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:237791219C>T	ENST00000366574.2	+	41	6596	c.6279C>T	c.(6277-6279)gaC>gaT	p.D2093D	RYR2_ENST00000542537.1_Silent_p.D2077D|RYR2_ENST00000360064.6_Silent_p.D2091D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2093	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAGTATGACGGCATTGGGG	0.552																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6277-6279)gaC>gaT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							76	75	75					1																	237791219		1981	4143	6124	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791219C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6279C>T	1.37:g.237791219C>T							p.D2093D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6399	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2093			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6279C>T	CCDS55691.1																																																																																				0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237791219	C	T	237791219	2	4	273	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237791219	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	64264637	237791219	11459402	5	19466											
TTC7A	57217	broad.mit.edu	37	chr2	47206005	47206005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctcacctacttcctggaAgctgccctccagagcgccta	8	8	9	16	1	1	1	1	0	0	1	3	3	3	2	5	1	5	2	5	1	3	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:47206005A>G	ENST00000319190.5	+	5	1091	c.723A>G	c.(721-723)gaA>gaG	p.E241E	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Silent_p.E241E|TTC7A_ENST00000409245.1_Silent_p.E207E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	241					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACTTCCTGGAAGCTGCCCTCC	0.537																																						uc010fbb.3																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(721-723)gaA>gaG		Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.							101	83	89					2																	47206005		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47206005A>G	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.723A>G	2.37:g.47206005A>G						TTC7A_uc002rvm.3_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc002rvo.3_Silent_p.E241E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.E122E|TTC7A_uc002rvq.3_5'UTR	p.E241E	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		4	1091	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	241					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.723A>G	CCDS33193.1																																																																																				0.537	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		G	47206005	A	G	47206005	2	3	273	1	0	0	0	0	0	0	0	1	16709	69	3	4		4	TTC7A	2	47206005	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08		47206005	195993368	6	19467											
STON1	11037	broad.mit.edu	37	chr2	48809567	48809567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaagctaaaatgaacCgccgagcatgtctggggagt	12	8	12	9	2	2	2	0	2	2	0	2	4	2	3	2	2	3	2	2	2	4	1	rs147440328		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:48809567C>T	ENST00000406226.1	+	3	1990	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R599C|STON1_ENST00000309835.3_Missense_Mutation_p.R599C|STON1_ENST00000404752.1_Missense_Mutation_p.R599C	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	599	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.R599C(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAAATGAACCGCCGAGCATG	0.483													C|||	1	0.000199681	0	0	5008	,	,		19260	0.001		0	False		,,,				2504	0					uc002rwp.2																			2	Substitution - Missense(2)	p.R599C(3)	large_intestine(2)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(1795-1797)Cgc>Tgc		Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	70	72	72		1795,1795,1795,1795,1795	5.7	1	2	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	599/1159,599/1136,599/736,599/736,599/1183	48809567	1,13005	2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809567C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1795C>T	2.37:g.48809567C>T	ENSP00000384615:p.Arg599Cys					STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R599C	p.R599C	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1909	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	599					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1795C>T	CCDS1841.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.957798	0.73902	0.0	1.16E-4	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.14893	2.53;2.53;2.53;2.49;2.47;2.49;2.49;2.68	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.088275	0.85682	D	0.000000	T	0.41419	0.1158	M	0.74881	2.28	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.966;0.995	T	0.15723	-1.0427	10	0.87932	D	0	.	12.4592	0.55723	0.2736:0.7264:0.0:0.0	.	599;599;599	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	C	599	ENSP00000385273:R599C;ENSP00000384615:R599C;ENSP00000310969:R599C;ENSP00000385499:R599C;ENSP00000385701:R599C;ENSP00000378236:R599C;ENSP00000311493:R599C;ENSP00000378234:R599C	ENSP00000310969:R599C	R	+	1	0	STON1-GTF2A1L;STON1	48663071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.572000	0.74005	2.941000	0.99782	0.655000	0.94253	CGC		0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		T	48809567	C	T	48809567	3	4	273	1	0	0	0	0	1	0	0	0	15315	652	23	2	1797	2	STON1	2	48809567	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	1603562	48809567	194389806	7	19468											
EDAR	10913	broad.mit.edu	37	chr2	109522815	109522815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggatctttttcctccGgctttgaatctgtgaaaaag	10	14	9	8	2	2	2	0	2	2	0	5	4	4	3	2	2	0	1	2	2	3	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:109522815G>A	ENST00000258443.2	-	11	1403	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	EDAR_ENST00000376651.1_Missense_Mutation_p.R357W|EDAR_ENST00000409271.1_Missense_Mutation_p.R357W	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	325					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTTTCCTCCGGCTTTGAATC	0.512																																						uc010fjn.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1069-1071)Cgg>Tgg		Homo sapiens ectodysplasin A receptor (EDAR), mRNA.							77	77	77					2																	109522815		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109522815G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.973C>T	2.37:g.109522815G>A	ENSP00000258443:p.Arg325Trp					EDAR_uc010yws.2_Missense_Mutation_p.R357W|EDAR_uc002teq.4_Missense_Mutation_p.R325W	p.R357W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			10	1616	-			325					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1069C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993661	0.54041	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94046	-3.34;-3.27;-3.34	5.39	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.96633	0.9468	10	0.87932	D	0	-12.9995	16.7903	0.85588	0.0:0.0:0.8623:0.1376	.	357;325	E9PC98;Q9UNE0	.;EDAR_HUMAN	W	357;325;357	ENSP00000386371:R357W;ENSP00000258443:R325W;ENSP00000365839:R357W	ENSP00000258443:R325W	R	-	1	2	EDAR	108889247	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	1.790000	0.38734	2.537000	0.85549	0.462000	0.41574	CGG		0.512	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			A	109522815	G	A	109522815	3	1	273	1	0	0	0	0	1	0	0	0	4905	1115	39	2	381	2	EDAR	2	109522815	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	60713248	109522815	133676558	8	19469											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504853	125504853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggtccaatgaaaggcacCcttactggggaggttcccct	8	8	13	12	1	0	1	0	1	0	0	2	2	2	2	4	6	1	2	4	6	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:125504853C>A	ENST00000431078.1	+	14	2486	c.2122C>A	c.(2122-2124)Cct>Act	p.P708T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	708	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAAAGGCACCCTTACTGGGG	0.537																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2125-2127)Cct>Act		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							105	104	105					2																	125504853		2033	4197	6230	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504853C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2122C>A	2.37:g.125504853C>A	ENSP00000399013:p.Pro708Thr					CNTNAP5_uc002tno.3_Missense_Mutation_p.P708T	p.P709T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2489	+			708			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2125C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.122475	0.00346	.	.	ENSG00000155052	ENST00000431078	T	0.08282	3.11	6.04	3.26	0.37387	.	0.408600	0.20782	N	0.085773	T	0.03095	0.0091	N	0.02247	-0.625	0.24123	N	0.995791	B	0.11235	0.004	B	0.09377	0.004	T	0.45745	-0.9240	10	0.20046	T	0.44	.	8.3981	0.32570	0.3987:0.5334:0.0:0.068	.	708	Q8WYK1	CNTP5_HUMAN	T	708	ENSP00000399013:P708T	ENSP00000399013:P708T	P	+	1	0	CNTNAP5	125221323	0.301000	0.24444	0.506000	0.27664	0.133000	0.20885	1.580000	0.36547	0.433000	0.26313	-0.188000	0.12872	CCT		0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125504853	C	A	125504853	3	1	273	1	0	0	0	0	1	0	0	0	3650	623	22	5	2176	5	CNTNAP5	2	125504853	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	15982038	125504853	117694520	9	19470											
POTEE	445582	broad.mit.edu	37	chr2	131984443	131984443	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacatgagcaaaaacagcaAgtcgtgaaatttttaatcaa	18	10	7	6	1	1	2	1	2	0	0	2	2	1	2	0	0	4	3	0	0	7	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:131984443A>G	ENST00000356920.5	+	4	952	c.858A>G	c.(856-858)caA>caG	p.Q286Q	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|RNU6-127P_ENST00000390897.1_RNA|POTEE_ENST00000358087.5_Silent_p.Q296Q	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	286					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAAAACAGCAAGTCGTGAAAT	0.333																																						uc002tsn.2																			0											c.(856-858)caA>caG		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							96	113	107					2																	131984443		1504	2704	4208	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131984443A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.858A>G	2.37:g.131984443A>G						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.Q286Q	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			3	910	+			286					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.858A>G	CCDS46414.1																																																																																				0.333	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		G	131984443	A	G	131984443	2	3	273	1	0	0	0	0	0	0	0	1	12264	69	3	4		4	POTEE	2	131984443	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	6479590	131984443	111214930	10	19471											
ZNF804A	91752	broad.mit.edu	37	chr2	185731110	185731110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggactatgctgagaaGgaaaataccatagcaaaagc	17	8	9	7	0	1	1	1	1	0	1	1	4	1	3	1	2	4	2	1	2	8	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:185731110G>C	ENST00000302277.6	+	2	720	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	42							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGCTGAGAAGGAAAATACCA	0.363																																						uc002uph.3																			0		p.E41Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(124-126)aaG>aaC		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							60	59	60					2																	185731110		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185731110G>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.126G>C	2.37:g.185731110G>C	ENSP00000303252:p.Lys42Asn						p.K42N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			1	720	+			42					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.126G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986296	0.74589	.	.	ENSG00000170396	ENST00000302277	T	0.14266	2.52	5.68	2.89	0.33648	.	0.000000	0.50627	D	0.000105	T	0.20861	0.0502	N	0.24115	0.695	0.43642	D	0.996044	D	0.89917	1.0	D	0.91635	0.999	T	0.01706	-1.1291	10	0.87932	D	0	-18.6615	9.7334	0.40374	0.2226:0.0:0.7774:0.0	.	42	Q7Z570	Z804A_HUMAN	N	42	ENSP00000303252:K42N	ENSP00000303252:K42N	K	+	3	2	ZNF804A	185439355	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.730000	0.26043	0.867000	0.35654	0.591000	0.81541	AAG		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		C	185731110	G	C	185731110	3	2	273	1	0	0	0	0	1	0	0	0	18167	991	35	5	132	5	ZNF804A	2	185731110	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	53746667	185731110	57468263	11	19472											
MPP4	58538	broad.mit.edu	37	chr2	202552079	202552079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagtaggggtttcacGtaataactccactacctggt	11	10	12	8	1	1	0	1	0	0	0	2	1	2	1	2	5	2	3	2	5	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:202552079G>A	ENST00000409474.3	-	5	502	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MPP4_ENST00000315506.7_Missense_Mutation_p.R99C|MPP4_ENST00000396886.3_Missense_Mutation_p.R99C|MPP4_ENST00000359962.5_Missense_Mutation_p.R99C|MPP4_ENST00000447335.2_Missense_Mutation_p.R99C|MPP4_ENST00000428900.2_Missense_Mutation_p.R99C|MPP4_ENST00000409143.1_Intron	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	99	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.R99C(1)		kidney(1)|lung(11)	12						GGGGTTTCACGTAATAACTCC	0.408																																						uc002uyk.4																			1	Substitution - Missense(1)	p.R99C(1)	large_intestine(1)	kidney(1)|lung(11)	12						c.(295-297)Cgt>Tgt		Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.							74	70	71					2																	202552079		1824	4083	5907	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202552079G>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.295C>T	2.37:g.202552079G>A	ENSP00000387278:p.Arg99Cys					MPP4_uc010ftj.3_Missense_Mutation_p.R99C|MPP4_uc010zhq.2_Missense_Mutation_p.R99C|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.R99C|MPP4_uc010zhs.2_Missense_Mutation_p.R99C|MPP4_uc002uyj.4_Missense_Mutation_p.R99C|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.3_Missense_Mutation_p.R99C	p.R99C	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			4	503	-			99			L27 2.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.295C>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769432	0.31320	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.05513	3.43;3.43;3.43;3.44;3.43	5.97	2.41	0.29592	L27, C-terminal (1);L27 (2);	1.206650	0.05650	N	0.585067	T	0.11196	0.0273	M	0.76574	2.34	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.21606	0.021;0.035;0.058;0.028;0.035;0.047;0.051;0.035;0.058	B;B;B;B;B;B;B;B;B	0.21151	0.009;0.011;0.027;0.007;0.007;0.016;0.01;0.007;0.033	T	0.36529	-0.9744	10	0.66056	D	0.02	.	6.2063	0.20604	0.0869:0.1215:0.6656:0.126	.	99;99;99;99;99;99;112;99;99	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	C	99	ENSP00000387278:R99C;ENSP00000319363:R99C;ENSP00000353047:R99C;ENSP00000416781:R99C;ENSP00000406160:R99C	ENSP00000319363:R99C	R	-	1	0	MPP4	202260324	0.066000	0.20996	0.000000	0.03702	0.005000	0.04900	1.131000	0.31406	0.253000	0.21552	0.655000	0.94253	CGT		0.408	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			A	202552079	G	A	202552079	3	1	273	1	0	0	0	0	1	0	0	0	9736	1145	40	1	1690	1	MPP4	2	202552079	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	16820969	202552079	40647294	12	19473											
SHISA5	51246	broad.mit.edu	37	chr3	48520627	48520627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgaaacctcagcgcCgagcccagctgctccaccgg	8	3	12	18	4	1	0	1	0	0	0	2	2	2	0	6	2	5	2	6	2	1	0	rs369971951		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:48520627C>T	ENST00000296444.2	-	3	609	c.273G>A	c.(271-273)tcG>tcA	p.S91S	SHISA5_ENST00000444115.1_Silent_p.S60S|SHISA5_ENST00000443308.2_Silent_p.S84S|SHISA5_ENST00000442747.1_Silent_p.S60S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	91					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						ACCTCAGCGCCGAGCCCAGCT	0.592																																						uc003ctp.1																			0				large_intestine(1)|lung(1)	2						c.(271-273)tcG>tcA		Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.							40	36	37					3																	48520627		2203	4300	6503	SO:0001819	synonymous_variant	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48520627C>T	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"Shisa homologs"	30376	protein-coding gene	gene with protein product		607290	"shisa homolog 5 (Xenopus laevis)"			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.273G>A	3.37:g.48520627C>T						SHISA5_uc011bbl.2_5'UTR|SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S	p.S91S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			2	407	-			91					B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	ENST00000296444.2	37	c.273G>A	CCDS2770.1																																																																																				0.592	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		T	48520627	C	T	48520627	2	4	273	1	0	0	0	0	0	0	0	1	14283	639	23	2		2	SHISA5	3	48520627	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		48520627	149501803	13	19474											
CACNA2D2	9254	broad.mit.edu	37	chr3	50513588	50513588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaaaatccgcatcacGccgtcgacctcctgctccag	9	7	6	19	4	1	0	1	0	0	0	6	1	5	0	7	0	1	2	7	0	2	0	rs371367882		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:50513588G>A	ENST00000479441.1	-	2	248	c.249C>T	c.(247-249)ggC>ggT	p.G83G	CACNA2D2_ENST00000424201.2_Silent_p.G83G|CACNA2D2_ENST00000435965.1_Silent_p.G83G|CACNA2D2_ENST00000423994.2_Silent_p.G83G|CACNA2D2_ENST00000360963.3_Silent_p.G14G|CACNA2D2_ENST00000266039.3_Silent_p.G83G|CACNA2D2_ENST00000429770.1_Silent_p.G83G|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000395083.1_Silent_p.G83G			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	83					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCCGCATCACGCCGTCGACCT	0.632																																						uc003daq.3																			0		p.G83D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(247-249)ggC>ggT		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	Gabapentin(DB00996)	G	,,	1,4401		0,1,2200	56	52	54		249,249,249	-6	0.8	3		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	83/1146,83/1151,83/1144	50513588	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50513588G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.249C>T	3.37:g.50513588G>A						CACNA2D2_uc003dap.3_Silent_p.G83G	p.G83G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	1	287	-			83					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.249C>T	CCDS54588.1																																																																																				0.632	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		A	50513588	G	A	50513588	2	1	273	1	0	0	0	0	0	0	0	1	2549	1074	38	1		1	CACNA2D2	3	50513588	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	1992961	50513588	147508842	14	19475											
PIK3CA	5290	broad.mit.edu	37	chr3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttagaatgcctccGtgaggctacattaataacca	13	11	8	9	1	0	3	0	2	0	1	1	3	1	3	3	1	3	1	3	1	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:178916726G>A	ENST00000263967.3	+	2	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R38H(10)|p.R38L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		12	Substitution - Missense(12)	p.R38H(18)|p.R38L(3)|p.R38C(2)|p.R38S(1)|p.R38G(1)	endometrium(7)|large_intestine(3)|lung(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(112-114)cGt>cAt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							76	74	75					3																	178916726		1838	4082	5920	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916726G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.113G>A	3.37:g.178916726G>A	ENSP00000263967:p.Arg38His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R38H	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	270	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		38		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.113G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755529	0.89843	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73681	-0.77;-0.77	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83898	0.0288	9	.	.	.	-9.214	19.2635	0.93977	0.0:0.0:1.0:0.0	.	38	P42336	PK3CA_HUMAN	H	38	ENSP00000263967:R38H;ENSP00000417479:R38H	.	R	+	2	0	PIK3CA	180399420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	CGT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916726	G	A	178916726	3	1	273	1	0	0	0	0	1	0	0	0	11913	1145	40	1	115	1	PIK3CA	3	178916726	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	128403138	178916726	19105704	15	19476											
PF4V1	5197	broad.mit.edu	37	chr4	74719597	74719597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggaggtgatcaaggcCggaccccactgccccactgc	8	5	12	16	1	1	1	1	1	0	0	1	3	1	3	6	4	3	0	6	4	1	0	rs147144357		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:74719597C>T	ENST00000226524.3	+	2	372	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	66					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGATCAAGGCCGGACCCCACT	0.612																																						uc003hhg.1																			0		p.A66G(2)		endometrium(1)|liver(2)	3						c.(196-198)gcC>gcT		Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.		C		0,4404		0,0,2202	59	65	63		198	-8.2	0	4	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PF4V1	NM_002620.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		66/105	74719597	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719597C>T	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.198C>T	4.37:g.74719597C>T							p.A66A	NM_002620	NP_002611	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	265	+	Breast(15;0.00102)		66					A1L4S0	Silent	SNP	ENST00000226524.3	37	c.198C>T	CCDS3561.1																																																																																				0.612	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			T	74719597	C	T	74719597	2	4	273	1	0	0	0	0	0	0	0	1	11753	639	23	2		2	PF4V1	4	74719597	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		74719597	116434679	16	19477											
TACR3	6870	broad.mit.edu	37	chr4	104579420	104579420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgcacaaagcagagagtaCggcctggcatgactttggtt	11	10	12	8	1	0	2	0	1	0	1	0	3	0	2	1	3	3	5	1	3	2	4	rs368975103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:104579420C>T	ENST00000304883.2	-	2	829	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	230					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCAGAGAGTACGGCCTGGCAT	0.393																																						uc003hxe.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(688-690)cGt>cAt		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.		C	HIS/ARG	0,4406		0,0,2203	136	127	130		689	6.1	1	4		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	TACR3	NM_001059.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	230/466	104579420	1,13005	2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579420C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.689G>A	4.37:g.104579420C>T	ENSP00000303325:p.Arg230His						p.R230H	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	830	-		Hepatocellular(203;0.217)	230					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.689G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005724	0.74932	0.0	1.16E-4	ENSG00000169836	ENST00000304883	T	0.33654	1.4	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.047037	0.85682	D	0.000000	T	0.60405	0.2266	M	0.67953	2.075	0.52099	D	0.999941	D	0.89917	1.0	D	0.68192	0.956	T	0.57171	-0.7857	10	0.54805	T	0.06	.	19.6475	0.95784	0.0:1.0:0.0:0.0	.	230	P29371	NK3R_HUMAN	H	230	ENSP00000303325:R230H	ENSP00000303325:R230H	R	-	2	0	TACR3	104798869	1.000000	0.71417	0.988000	0.46212	0.553000	0.35397	5.166000	0.64965	2.885000	0.99019	0.655000	0.94253	CGT		0.393	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		T	104579420	C	T	104579420	3	4	273	1	0	0	0	0	1	0	0	0	15504	536	19	1	724	1	TACR3	4	104579420	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	29859823	104579420	86574856	17	19478											
ZNF827	152485	broad.mit.edu	37	chr4	146697085	146697085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttagcagcataggggCacaagtggcatttgtatttt	10	12	12	7	0	0	0	0	0	0	0	0	0	0	0	0	4	2	6	0	4	4	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:146697085C>T	ENST00000508784.1	-	10	2776	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.C850Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.C500Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCATAGGGGCACAAGTGGCA	0.498																																						uc003ikn.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2548-2550)tGc>tAc		Homo sapiens zinc finger protein 827 (ZNF827), mRNA.							134	115	121					4																	146697085		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146697085C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2549G>A	4.37:g.146697085C>T	ENSP00000421863:p.Cys850Tyr					ZNF827_uc003ikm.3_Missense_Mutation_p.C850Y|ZNF827_uc010iox.3_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.3_5'UTR	p.C850Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			9	2597	-	all_hematologic(180;0.151)		850					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.2549G>A		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873735	0.91664	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.58652	0.32;0.32;0.32	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	M	0.89785	3.06	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.996	D	0.84405	0.0562	10	0.87932	D	0	-13.2941	20.5568	0.99304	0.0:1.0:0.0:0.0	.	500;850;850	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	Y	850;500;850;849;500	ENSP00000421863:C850Y;ENSP00000423130:C500Y;ENSP00000368761:C850Y	ENSP00000281318:C849Y	C	-	2	0	ZNF827	146916535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.388000	0.79795	2.861000	0.98227	0.655000	0.94253	TGC		0.498	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		T	146697085	C	T	146697085	3	4	273	1	0	0	0	0	1	0	0	0	18177	710	25	3	700	3	ZNF827	4	146697085	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	42117665	146697085	44457191	18	19479											
ODZ3	55714	broad.mit.edu	37	chr4	183651467	183651467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactattacccgccaggaCggaatgtgagttagtcccat	11	11	9	10	2	0	1	0	1	0	0	1	3	1	3	3	2	2	1	3	2	6	5	rs529748049		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:183651467C>T	ENST00000511685.1	+	15	2823	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	TENM3_ENST00000406950.2_Silent_p.D900D|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	900					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCGCCAGGACGGAATGTGAG	0.398																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(2698-2700)gaC>gaT		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							104	96	99					4																	183651467		1865	4089	5954	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183651467C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2700C>T	4.37:g.183651467C>T						ODZ3_uc003ive.1_Silent_p.D306D	p.D900D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	13	2775	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	900					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.2700C>T	CCDS47165.1																																																																																				0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183651467	C	T	183651467	2	4	273	1	0	0	0	0	0	0	0	1	10836	535	19	1		1	ODZ3	4	183651467	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	36954382	183651467	7502809	19	19480											
FCHO2	115548	broad.mit.edu	37	chr5	72383422	72383422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttctttgtaggttctgGgtccctccgagcaaaatttg	6	17	9	9	1	3	0	0	0	3	0	5	1	5	0	2	2	1	3	2	2	3	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:72383422G>A	ENST00000430046.2	+	25	2368	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G751E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G718E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	751	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTAGGTTCTGGGTCCCTCCGA	0.398																																						uc003kcl.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(2251-2253)gGg>gAg		Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.							80	75	77					5																	72383422		1823	4080	5903	SO:0001583	missense	115548							g.chr5:72383422G>A	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2252G>A	5.37:g.72383422G>A	ENSP00000393776:p.Gly751Glu					FCHO2_uc011csl.2_Missense_Mutation_p.G718E|FCHO2_uc010izb.3_Missense_Mutation_p.G179E|FCHO2_uc011csn.2_Missense_Mutation_p.G179E	p.G751E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	24	2368	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	751					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.2252G>A	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467288	0.84533	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.42131	0.98;0.98;0.98	4.67	4.67	0.58626	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.75608	-0.3259	10	0.87932	D	0	-11.583	18.1271	0.89589	0.0:0.0:1.0:0.0	.	718;751	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	E	751;751;718	ENSP00000393776:G751E;ENSP00000344034:G751E;ENSP00000427296:G718E	ENSP00000344034:G751E	G	+	2	0	FCHO2	72419178	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.203000	0.95033	2.573000	0.86826	0.650000	0.86243	GGG		0.398	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		A	72383422	G	A	72383422	3	1	273	1	0	0	0	0	1	0	0	0	5788	1232	43	3	2350	3	FCHO2	5	72383422	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		72383422	108531838	20	19481											
GABRA6	2559	broad.mit.edu	37	chr5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtttgctttgcattcGtcttctctgcgcttatcgag	4	18	9	10	3	2	0	0	0	2	0	5	1	2	0	0	0	4	5	0	0	2	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:161119060G>A	ENST00000274545.5	+	8	1373	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V304I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	314					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V314I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.V314I(2)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(940-942)Gtc>Atc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						176	146	156					5																	161119060		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119060G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.940G>A	5.37:g.161119060G>A	ENSP00000274545:p.Val314Ile	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	p.V314I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1278	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	314					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.940G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062912	0.93898	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88354	-2.37;-2.37	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94268	0.7508	10	0.87932	D	0	.	18.9984	0.92822	0.0:0.0:1.0:0.0	.	314	Q16445	GBRA6_HUMAN	I	314;304	ENSP00000274545:V314I;ENSP00000430527:V304I	ENSP00000274545:V314I	V	+	1	0	GABRA6	161051638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.751000	0.98889	2.468000	0.83385	0.650000	0.86243	GTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			A	161119060	G	A	161119060	3	1	273	1	0	0	0	0	1	0	0	0	6165	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	88735638	161119060	19796200	21	19482											
LRRC16A	55604	broad.mit.edu	37	chr6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccatggagccatctgagCgcctggctagtctccaggcg	6	9	12	14	2	3	1	0	1	3	0	5	2	3	2	4	3	2	1	4	3	1	1	rs199969829		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													C|||	1	0.000199681	0	0	5008	,	,		16435	0		0	False		,,,				2504	0.001					uc011djw.2																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(409-411)Cgc>Tgc		Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.							48	50	49					6																	25450163		1846	4086	5932	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450163C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.409C>T	6.37:g.25450163C>T	ENSP00000331983:p.Arg137Cys					LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank	p.R137C	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			5	777	+			137					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.409C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	LRRC16A	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25450163	C	T	25450163	3	4	273	1	0	0	0	0	1	0	0	0	8971	768	27	1	431	1	LRRC16A	6	25450163	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08		25450163	145664904	22	19483											
ABCF1	23	broad.mit.edu	37	chr6	30548286	30548286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggaaggagaaggccaagaAggcagagcaggtgtgtattt	14	6	17	4	0	0	3	0	0	0	3	0	5	0	4	1	5	1	3	1	5	5	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:30548286A>G	ENST00000326195.8	+	8	780	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ABCF1_ENST00000376545.3_Missense_Mutation_p.K223R|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	223	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGGCCAAGAAGGCAGAGCAG	0.453																																						uc003nql.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(667-669)aAg>aGg		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.							32	26	28					6																	30548286		1509	2707	4216	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30548286A>G	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.668A>G	6.37:g.30548286A>G	ENSP00000313603:p.Lys223Arg					ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.3_Missense_Mutation_p.K223R	p.K223R	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			7	763	+			223			Glu-rich.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.668A>G	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.033145	0.35893	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867	T;T;T	0.54675	1.55;0.56;0.74	5.0	5.0	0.66597	.	1.011660	0.07901	N	0.972682	T	0.21227	0.0511	N	0.14661	0.345	0.80722	D	1	B;B;B	0.18610	0.01;0.01;0.029	B;B;B	0.17098	0.01;0.01;0.017	T	0.03761	-1.1006	10	0.32370	T	0.25	-21.854	11.0918	0.48121	1.0:0.0:0.0:0.0	.	223;223;223	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	R	223;223;224;224	ENSP00000313603:K223R;ENSP00000365728:K223R;ENSP00000405512:K224R	ENSP00000313603:K223R	K	+	2	0	ABCF1	30656265	0.741000	0.28217	0.955000	0.39395	0.654000	0.38779	1.200000	0.32247	1.878000	0.54408	0.383000	0.25322	AAG		0.453	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			G	30548286	A	G	30548286	3	3	273	1	0	0	0	0	1	0	0	0	65	72	3	4	698	4	ABCF1	6	30548286	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08	5098123	30548286	140566781	23	19484											
CYP21A2	1590	broad.mit.edu	37	chr6	31973481	31973483	+	IGR	DEL	CTG	CTG	-																															ttgccatgctgctcctgggcCtgctgctgctgctgcccctg																								rs372987663		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:31973481_31973483delCTG	ENST00000594256.1	-	0	69				CYP21A1P_ENST00000342991.6_RNA|C4A-AS1_ENST00000458633.1_RNA																							gctcctgggcctgctgctgctgc	0.66																																						uc021yvd.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						c.(16-18)ctgdel		Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.				59,3537		5,49,1744						0.7	0.9			4	127,6723		15,97,3313	no	intergenic				20,146,5057	A1A1,A1R,RR		1.854,1.6407,1.7806				186,10260				SO:0001628	intergenic_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31973481_31973483delCTG																													6.37:g.31973490_31973492delCTG						CYP21A1P_uc021yve.1_5'UTR	p.L10del			P08686	CP21A_HUMAN			0	123_125	+			9						In_Frame_Del	DEL	ENST00000594256.1	37	c.16_18delCTG																																																																																					0.66	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				-	31973483	CTG	-	31973481	6	5	273	0	1	1	0	1	0	0	0	0	4153	680	24	0		0	CYP21A2	6	31973481	IGR	DEL	CTG	TCGA-76-6286-01A-11D-1845-08	1425195	31973481	139141586	24	19485											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|C7orf26_ENST00000359073.5_5'Flank			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						uc003sqi.3																			2	Substitution - Missense(2)	p.R300H(4)|p.Q299*(1)	upper_aerodigestive_tract(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(898-900)cGt>cAt		Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.							122	109	113					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	p.R300H	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1257	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		A	6628405	G	A	6628405	3	1	273	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		6628405	152510258	25	19486											
PCLO	27445	broad.mit.edu	37	chr7	82583736	82583736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagagaaggtgtgtcagagGgtgggacagatgtagcactt	11	9	17	4	0	1	4	1	1	0	3	1	6	1	5	0	3	1	2	0	3	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:82583736G>T	ENST00000333891.9	-	5	6870	c.6533C>A	c.(6532-6534)cCc>cAc	p.P2178H	PCLO_ENST00000423517.2_Missense_Mutation_p.P2178H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTCAGAGGGTGGGACAGA	0.428																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6532-6534)cCc>cAc		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							123	123	123					7																	82583736		1990	4161	6151	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583736G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6533C>A	7.37:g.82583736G>T	ENSP00000334319:p.Pro2178His					PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.3_5'Flank	p.P2178H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	6822	-			2109						Missense_Mutation	SNP	ENST00000333891.9	37	c.6533C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.971904	0.18736	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.22	5.77	4.88	0.63580	.	.	.	.	.	T	0.26774	0.0655	L	0.44542	1.39	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.00468	-1.1721	9	0.87932	D	0	.	9.1859	0.37170	0.0728:0.0:0.781:0.1462	.	2178;2178	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2109;2178;2178	ENSP00000334319:P2178H;ENSP00000388393:P2178H	ENSP00000334319:P2178H	P	-	2	0	PCLO	82421672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.115000	0.50391	2.724000	0.93272	0.650000	0.86243	CCC		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82583736	G	T	82583736	3	4	273	1	0	0	0	0	1	0	0	0	11583	1232	43	5	8996	5	PCLO	7	82583736	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	75955331	82583736	76554927	26	19487											
MUC17	140453	broad.mit.edu	37	chr7	100684314	100684314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccacttcatctacaaCtgctgaaggtaccagcattc	12	10	7	12	0	2	2	1	2	1	0	3	2	2	2	2	1	6	3	2	1	5	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:100684314C>G	ENST00000306151.4	+	3	9681	c.9617C>G	c.(9616-9618)aCt>aGt	p.T3206S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3206	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCATCTACAACTGCTGAAGGT	0.502																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9616-9618)aCt>aGt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							286	289	288					7																	100684314		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684314C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9617C>G	7.37:g.100684314C>G	ENSP00000302716:p.Thr3206Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.T3206S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	9670	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3206			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9617C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.907	0.957737	0.18507	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.33	0.393	0.16294	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.40478	-0.9561	9	0.09590	T	0.72	.	5.5857	0.17274	0.0:0.7936:0.0:0.2064	.	3206	Q685J3	MUC17_HUMAN	S	3206	ENSP00000302716:T3206S	ENSP00000302716:T3206S	T	+	2	0	MUC17	100471034	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.377000	0.20552	0.143000	0.18926	0.089000	0.15464	ACT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100684314	C	G	100684314	3	3	273	1	0	0	0	0	1	0	0	0	9974	565	20	5	9627	5	MUC17	7	100684314	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	18100578	100684314	58454349	27	19488											
EZH2	2146	broad.mit.edu	37	chr7	148529726	148529726	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatatcttatttacatacCataaaattctgctgtagggg	14	14	7	6	0	2	1	0	0	2	1	2	1	2	1	1	2	3	2	1	2	8	8			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:148529726C>G	ENST00000460911.1	-	4	451	c.363G>C	c.(361-363)atG>atC	p.M121I	EZH2_ENST00000483967.1_Splice_Site_p.M112I|EZH2_ENST00000476773.1_Splice_Site_p.M112I|EZH2_ENST00000536783.1_Splice_Site_p.M12I|EZH2_ENST00000541220.1_Splice_Site_p.M112I|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Splice_Site_p.M112I|EZH2_ENST00000320356.2_Splice_Site_p.M121I			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	121	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTACATACCATAAAATTCT	0.313			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.e4+1		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.							76	85	82					7																	148529726		2203	4300	6503	SO:0001630	splice_region_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148529726C>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.363+1G>C	7.37:g.148529726C>G						EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Splice_Site_p.M112_splice|EZH2_uc003wfb.2_Splice_Site_p.M121_splice|EZH2_uc003wfc.2_Intron|EZH2_uc011kuh.2_Splice_Site_p.M112_splice|EZH2_uc011kui.2_Splice_Site_p.M121_splice|EZH2_uc011kuj.2_Splice_Site	p.M121_splice	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		4	556	-	Melanoma(164;0.15)		121			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.363_splice	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996933	0.93167	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	M	0.80183	2.485	0.80722	D	1	P;P;P;P;P	0.52463	0.584;0.565;0.953;0.945;0.813	B;P;P;P;P	0.59424	0.127;0.527;0.857;0.546;0.492	D	0.89898	0.4042	9	.	.	.	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	121;112;112;121;121	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-2	.;.;.;EZH2_HUMAN;.	I	112;121;121;112;112;112;12	ENSP00000417062:M112I;ENSP00000320147:M121I;ENSP00000419711:M121I;ENSP00000443219:M112I;ENSP00000419050:M112I;ENSP00000419856:M112I;ENSP00000439305:M12I	.	M	-	3	0	EZH2	148160659	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.577000	0.82486	2.807000	0.96579	0.591000	0.81541	ATG		0.313	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	Missense_Mutation	G	148529726	C	G	148529726	5	3	273	1	0	0	0	0	0	0	1	0	5334	608	21	5	1960	5	EZH2	7	148529726	Splice_Site	SNP	C	TCGA-76-6286-01A-11D-1845-08	47845412	148529726	10608937	28	19489											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22972207	22972207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactggagcctgtaacccGtgcacagagggtgtggatta	10	9	13	9	1	0	1	0	0	0	1	0	3	0	3	2	3	4	2	2	3	3	3	rs74480765	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:22972207G>A	ENST00000356864.3	+	3	736	c.204G>A	c.(202-204)ccG>ccA	p.P68P	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_5'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	68					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468													G|||	9	0.00179712	0	0	5008	,	,		18515	0.001		0.008	False		,,,				2504	0					uc003xcy.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(202-204)ccG>ccA		Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	194	170	178		204	-3.2	0	8	dbSNP_132	178	39,8561	26.3+/-74.7	0,39,4261	no	coding-synonymous	TNFRSF10C	NM_003841.3		0,41,6462	AA,AG,GG		0.4535,0.0454,0.3152		68/260	22972207	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22972207G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.204G>A	8.37:g.22972207G>A						TNFRSF10C_uc011kzr.2_Non-coding_Transcript	p.P68P	NM_003841	NP_003832	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	2	512	+		Prostate(55;0.0421)|Breast(100;0.067)	68					O14755|Q08AS6|Q6FH98|Q6UXM5	Silent	SNP	ENST00000356864.3	37	c.204G>A	CCDS6037.1																																																																																				0.468	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			A	22972207	G	A	22972207	2	1	273	1	0	0	0	0	0	0	0	1	16279	1132	40	1		1	TNFRSF10C	8	22972207	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		22972207	123391815	29	19490											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617355	70617355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagtaaagacacaccActgcagatcattgctagttt	16	10	6	9	0	1	2	1	0	0	2	1	2	1	2	1	0	3	4	1	0	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:70617355A>G	ENST00000260126.4	-	6	2239	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	SLCO5A1_ENST00000524945.1_Silent_p.S511S|SLCO5A1_ENST00000530307.1_Silent_p.S456S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	511						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGACACACCACTGCAGATCA	0.408																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1531-1533)agT>agC		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							118	113	115					8																	70617355		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617355A>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1533T>C	8.37:g.70617355A>G						SLCO5A1_uc010lzb.3_Silent_p.S456S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S	p.S511S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		5	2240	-	Breast(64;0.0654)		511					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1533T>C	CCDS6205.1																																																																																				0.408	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		G	70617355	A	G	70617355	2	3	273	1	0	0	0	0	0	0	0	1	14731	156	6	4		4	SLCO5A1	8	70617355	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	47645148	70617355	75746667	30	19491											
RIMS2	9699	broad.mit.edu	37	chr8	104897848	104897848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatccgaatttggccCgttatccagtaaagccacaa	13	9	9	10	2	0	1	0	1	0	0	2	3	2	1	4	1	1	2	4	1	6	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:104897848C>T	ENST00000436393.2	+	2	596	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	RIMS2_ENST00000406091.3_Missense_Mutation_p.R341C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R149C|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R149C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	372	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAATTTGGCCCGTTATCCAGT	0.473										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(355-357)Cgt>Tgt		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							89	88	88					8																	104897848		2007	4179	6186	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897848C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.355C>T	8.37:g.104897848C>T	ENSP00000390665:p.Arg119Cys	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.3_Missense_Mutation_p.R149C|RIMS2_uc003ylr.3_Missense_Mutation_p.R149C	p.R119C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	596	+			372			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.355C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.119369	0.77323	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.32	5.32	0.75619	.	.	.	.	.	T	0.61400	0.2344	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.999	T	0.64067	-0.6494	9	0.87932	D	0	.	13.8993	0.63792	0.1523:0.8476:0.0:0.0	.	372;119;149;149;341	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	341;372;341;372;149;149;149;149;119	ENSP00000427018:R341C;ENSP00000384892:R341C;ENSP00000425205:R149C;ENSP00000262231:R149C;ENSP00000423559:R149C;ENSP00000386228:R149C;ENSP00000390665:R119C	ENSP00000262231:R149C	R	+	1	0	RIMS2	104967024	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.742000	0.68646	2.479000	0.83701	0.467000	0.42956	CGT		0.473	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	104897848	C	T	104897848	3	4	273	1	0	0	0	0	1	0	0	0	13368	652	23	2	1161	2	RIMS2	8	104897848	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	34280493	104897848	41466174	31	19492											
CNTLN	54875	broad.mit.edu	37	chr9	17330744	17330744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaactgtcagaaaacAtatctgccaacaagggtttc	17	9	7	8	0	2	2	1	1	1	1	3	2	2	2	1	1	4	1	1	1	7	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:17330744A>G	ENST00000380647.3	+	9	1540	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	CNTLN_ENST00000425824.1_Missense_Mutation_p.I486V|CNTLN_ENST00000262360.5_Missense_Mutation_p.I486V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	486					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTCAGAAAACATATCTGCCAA	0.368																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1456-1458)Ata>Gta		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							129	123	125					9																	17330744		1842	4085	5927	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17330744A>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1456A>G	9.37:g.17330744A>G	ENSP00000370021:p.Ile486Val					CNTLN_uc003zmy.3_Missense_Mutation_p.I486V|CNTLN_uc010mio.3_Missense_Mutation_p.I165V	p.I486V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	8	1482	+			486					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1456A>G	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	5.343	0.248514	0.10130	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36878	1.23;1.23;1.23	5.0	1.2	0.21068	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26815	-1.0092	9	0.22109	T	0.4	.	5.1234	0.14871	0.6478:0.0:0.2267:0.1254	.	486;486;486	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	V	486	ENSP00000370021:I486V;ENSP00000392798:I486V;ENSP00000262360:I486V	ENSP00000262360:I486V	I	+	1	0	CNTLN	17320744	0.003000	0.15002	0.022000	0.16811	0.031000	0.12232	1.318000	0.33643	0.282000	0.22254	-1.385000	0.01166	ATA		0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		G	17330744	A	G	17330744	3	3	273	1	0	0	0	0	1	0	0	0	3639	217	8	4	1520	4	CNTLN	9	17330744	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		17330744	123882687	32	19493											
FBXO10	26267	broad.mit.edu	37	chr9	37515999	37515999	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttgccctggaagatGatgttttcctgcaccagggc	6	13	12	10	0	0	2	0	1	0	1	1	3	1	3	3	3	2	3	3	3	1	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:37515999G>T	ENST00000432825.2	-	10	2646	c.2598C>A	c.(2596-2598)atC>atA	p.I866I	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.I391I	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522																																						uc004aac.3																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2644-2646)atC>atA		Homo sapiens F-box protein 10 (FBXO10), mRNA.							236	207	216					9																	37515999		1950	4150	6100	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37515999G>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2598C>A	9.37:g.37515999G>T						FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I	p.I882I	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2726	-			866					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.2646C>A	CCDS47966.1																																																																																				0.522	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			T	37515999	G	T	37515999	2	4	273	1	0	0	0	0	0	0	0	1	5726	1280	45	5		5	FBXO10	9	37515999	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	20185255	37515999	103697432	33	19494											
TMC1	117531	broad.mit.edu	37	chr9	75435855	75435855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgttatgtgctgcaatGttcctgaggccagggtcttc	5	12	14	10	1	1	1	0	1	1	0	3	1	2	1	3	3	2	4	3	3	2	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:75435855G>A	ENST00000297784.5	+	20	2401	c.1861G>A	c.(1861-1863)Gtt>Att	p.V621I	TMC1_ENST00000396237.3_Missense_Mutation_p.V621I|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.V621I	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	621					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGCTGCAATGTTCCTGAGGC	0.502																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0		p.N620S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1861-1863)Gtt>Att		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							202	174	184					9																	75435855		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75435855G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1861G>A	9.37:g.75435855G>A	ENSP00000297784:p.Val621Ile					TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I	p.V621I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			19	2401	+			621					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1861G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079766	0.94050	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.64085	-0.08;-0.08;-0.08	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.75376	0.3841	L	0.48362	1.52	0.54753	D	0.999989	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.91635	0.998;0.998;0.999	T	0.71337	-0.4623	10	0.38643	T	0.18	-25.4214	20.2406	0.98372	0.0:0.0:1.0:0.0	.	588;588;621	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	I	621;621;588;588;615;621	ENSP00000297784:V621I;ENSP00000341433:V621I;ENSP00000379538:V621I	ENSP00000297784:V621I	V	+	1	0	TMC1	74625675	1.000000	0.71417	0.987000	0.45799	0.863000	0.49368	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	GTT		0.502	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			A	75435855	G	A	75435855	3	1	273	1	0	0	0	0	1	0	0	0	15981	1377	48	3	1923	3	TMC1	9	75435855	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	37919856	75435855	65777576	34	19495											
ASTN2	23245	broad.mit.edu	37	chr9	119770488	119770488	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaagcttggccgggtttaAccagtcggagatgtccaggt	9	9	15	8	2	0	1	0	0	0	1	2	3	1	2	3	5	2	2	3	5	2	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:119770488A>G	ENST00000313400.4	-	7	1574	c.1474T>C	c.(1474-1476)Tta>Cta	p.L492L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L441L|ASTN2_ENST00000373996.3_Silent_p.L492L			O75129	ASTN2_HUMAN	astrotactin 2	492					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCGGGTTTAACCAGTCGGAG	0.512																																						uc004bjt.2																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1321-1323)Tta>Cta		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							117	100	105					9																	119770488		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119770488A>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1474T>C	9.37:g.119770488A>G						ASTN2_uc022bml.1_Silent_p.L141L|ASTN2_uc022bmm.1_Silent_p.L141L	p.L441L	NM_014010	NP_054729	O75129	ASTN2_HUMAN			5	1422	-			492					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1321T>C																																																																																					0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		G	119770488	A	G	119770488	2	3	273	1	0	0	0	0	0	0	0	1	1065	40	2	4		4	ASTN2	9	119770488	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	44334633	119770488	21442943	35	19496											
GPSM1	26086	broad.mit.edu	37	chr9	139250804	139250804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccccgcagcccagccctcGatgacggcctcgccccagac	6	3	9	23	4	0	2	0	1	0	1	2	3	0	2	8	1	2	1	8	1	0	0	rs79557901	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:139250804G>A	ENST00000440944.1	+	13	1843	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	GPSM1_ENST00000392944.1_Silent_p.S32S|GPSM1_ENST00000429455.1_Silent_p.S32S	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	541					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCAGCCCTCGATGACGGCCT	0.716													G|||	22	0.00439297	0	0	5008	,	,		13433	0.0109		0.008	False		,,,				2504	0.0031					uc004chd.2																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1621-1623)tcG>tcA		Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.		G	,,	2,4332		0,2,2165	10	13	12		1623,96,96	-6.3	0	9	dbSNP_131	12	51,8471		0,51,4210	yes	coding-synonymous,coding-synonymous,coding-synonymous	GPSM1	NM_001145638.1,NM_001145639.1,NM_001200003.1	,,	0,53,6375	AA,AG,GG		0.5985,0.0461,0.4123	,,	541/676,32/167,32/167	139250804	53,12803	2167	4261	6428	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139250804G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1623G>A	9.37:g.139250804G>A						GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc022bpn.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S	p.S541S	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	12	1843	+		Myeloproliferative disorder(178;0.0821)	541					A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.1623G>A	CCDS48055.1																																																																																				0.716	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		A	139250804	G	A	139250804	2	1	273	1	0	0	0	0	0	0	0	1	6734	1045	37	2		2	GPSM1	9	139250804	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	19480316	139250804	1962627	36	19497											
KIAA0913	23053	broad.mit.edu	37	chr10	75556970	75556970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttggcacttggcagtcGtggaggctataatggacggg	7	9	16	9	3	0	0	0	0	0	0	1	2	0	2	1	6	0	4	1	6	2	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:75556970G>A	ENST00000605216.1	+	17	3576	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1120H|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1125H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1087H|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1125H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1120							zinc ion binding (GO:0008270)										CTTGGCAGTCGTGGAGGCTAT	0.577																																						uc001jvj.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19						c.(3358-3360)cGt>cAt		Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.							43	43	43					10																	75556970		1875	4113	5988	SO:0001583	missense	23053						zinc ion binding	g.chr10:75556970G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3359G>A	10.37:g.75556970G>A	ENSP00000474748:p.Arg1120His					KIAA0913_uc001jve.3_Missense_Mutation_p.R1125H|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.2_5'Flank	p.R1120H	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN			16	3614	+	Prostate(51;0.0112)		1120					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3359G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.396670|4.396670	0.83011|0.83011	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.47177|.	0.85|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.170469|.	0.38326|.	U|.	0.001725|.	T|T	0.69242|0.69242	0.3089|0.3089	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.78314|.	0.991;0.991;0.991;0.991|.	T|T	0.66913|0.66913	-0.5803|-0.5803	10|5	0.42905|.	T|.	0.14|.	-4.4047|-4.4047	17.9929|17.9929	0.89174|0.89174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1120;1132;1120;1125|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	H|M	1125|395	ENSP00000381693:R1125H|.	ENSP00000381693:R1125H|.	R|V	+|+	2|1	0|0	KIAA0913|KIAA0913	75226976|75226976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.321000|9.321000	0.96353|0.96353	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.577	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		A	75556970	G	A	75556970	3	1	273	1	0	0	0	0	1	0	0	0	8200	1145	40	1	3440	1	KIAA0913	10	75556970	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		75556970	59977777	37	19498											
PTEN	5728	broad.mit.edu	37	chr10	89720661	89720661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttttaggacaaaatgtTtcacttttgggtaaatacat	12	19	6	4	0	1	0	1	0	0	0	1	1	1	1	0	2	1	2	0	2	6	9	rs142420551		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:89720661T>C	ENST00000371953.3	+	8	2169	c.812T>C	c.(811-813)tTt>tCt	p.F271S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	271	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAAATGTTTCACTTTTGG	0.274		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.F271S(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.M270I(1)|p.F271L(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(811-813)tTt>tCt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							24	26	25					10																	89720661		2182	4259	6441	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720661T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.812T>C	10.37:g.89720661T>C	ENSP00000361021:p.Phe271Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.F271S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1844	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	271			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.812T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451558	0.84209	.	.	ENSG00000171862	ENST00000371953	D	0.94000	-3.33	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	M	0.84511	2.7	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.96851	0.9625	9	.	.	.	-3.1038	14.9228	0.70854	0.0:0.0:0.0:1.0	.	271	P60484	PTEN_HUMAN	S	271	ENSP00000361021:F271S	.	F	+	2	0	PTEN	89710641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.661000	0.83786	1.942000	0.56320	0.482000	0.46254	TTT		0.274	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89720661	T	C	89720661	3	2	273	1	0	0	0	0	1	0	0	0	12738	1841	64	4	842	4	PTEN	10	89720661	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	14163691	89720661	45814086	38	19499											
MUC5B	727897	broad.mit.edu	37	chr11	1273709	1273709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgccccgctgtcctcGccctcccctgcccctggctg	0	9	8	24	3	0	0	0	0	0	0	5	0	4	0	10	1	1	2	10	1	0	0	rs371127122		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:1273709G>A	ENST00000529681.1	+	32	15058	c.15000G>A	c.(14998-15000)tcG>tcA	p.S5000S	MUC5B_ENST00000447027.1_Silent_p.S5003S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5000					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCTGTCCTCGCCCTCCCCTG	0.682																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14998-15000)tcG>tcA		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.		G		1,4191		0,1,2095	31	39	36		15000	-9.1	0	11		36	1,8361		0,1,4180	no	coding-synonymous	MUC5B	NM_002458.2		0,2,6275	AA,AG,GG		0.012,0.0239,0.0159		5000/5763	1273709	2,12552	2096	4181	6277	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273709G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15000G>A	11.37:g.1273709G>A							p.S5000S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	15059	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5000					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.15000G>A	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1273709	G	A	1273709	2	1	273	1	0	0	0	0	0	0	0	1	9979	1074	38	1		1	MUC5B	11	1273709	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		1273709	133732807	39	19500											
OR5P2	120065	broad.mit.edu	37	chr11	7818411	7818411	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcatgaagaggatgactcGaaggattggatcatctgtta	13	11	12	5	1	3	3	2	2	1	1	4	8	3	6	0	3	0	1	0	3	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:7818411G>A	ENST00000329434.2	-	1	109	c.79C>T	c.(79-81)Cga>Tga	p.R27*	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGACTCGAAGGATTGGA	0.428																																						uc001mfp.1																			0		p.L26F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(79-81)Cga>Tga		Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.							63	74	70					11																	7818411		2101	4292	6393	SO:0001587	stop_gained	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818411G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.79C>T	11.37:g.7818411G>A	ENSP00000331823:p.Arg27*						p.R27*	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	79	-			27					Q3MIS8	Nonsense_Mutation	SNP	ENST00000329434.2	37	c.79C>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755375	0.31046	.	.	ENSG00000183303	ENST00000329434	.	.	.	5.5	0.0297	0.14164	.	1.006940	0.07986	N	0.986334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.1929	5.9068	0.19006	0.1471:0.0:0.4658:0.3872	.	.	.	.	X	27	.	ENSP00000331823:R27X	R	-	1	2	OR5P2	7774987	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.292000	0.19011	0.082000	0.17018	0.555000	0.69702	CGA		0.428	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		A	7818411	G	A	7818411	4	1	273	1	0	0	0	0	0	1	0	0	11178	1066	37	2	893	2	OR5P2	11	7818411	Nonsense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	6544702	7818411	127188105	40	19501											
OR5W2	390148	broad.mit.edu	37	chr11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaataggaagaacttggcCggaaatacataaagagcaga	19	5	12	5	1	0	4	0	0	0	4	0	7	0	6	1	3	3	1	1	3	8	4	rs202102548		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													C|||	1	0.000199681	0	0	5008	,	,		15067	0		0	False		,,,				2504	0.001				Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			1	Substitution - Missense(1)	p.R261W(2)|p.R261Q(2)	pancreas(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(781-783)cGg>cAg		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	80	92	88		782	5	0	11		88	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR5W2	NM_001001960.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	261/311	55681277	2,12992	2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681277C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.782G>A	11.37:g.55681277C>T	ENSP00000342448:p.Arg261Gln						p.R261Q	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	782	-			261						Missense_Mutation	SNP	ENST00000344514.1	37	c.782G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026923	0.35797	2.27E-4	1.16E-4	ENSG00000187612	ENST00000344514	T	0.37235	1.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.31857	0.0810	L	0.56199	1.76	0.09310	N	1	P	0.41524	0.753	B	0.42188	0.379	T	0.16748	-1.0392	10	0.10636	T	0.68	.	9.4436	0.38684	0.0:0.9031:0.0:0.0969	.	261	Q8NH69	OR5W2_HUMAN	Q	261	ENSP00000342448:R261Q	ENSP00000342448:R261Q	R	-	2	0	OR5W2	55437853	0.000000	0.05858	0.047000	0.18901	0.876000	0.50452	-0.083000	0.11286	2.311000	0.77944	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		T	55681277	C	T	55681277	3	4	273	1	0	0	0	0	1	0	0	0	11185	652	23	2	152	2	OR5W2	11	55681277	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47862866	55681277	79325239	41	19502											
MAP3K11	4296	broad.mit.edu	37	chr11	65375157	65375157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaccctggatctcgcgCttccagccttcctgcatgga	8	9	10	14	2	1	1	0	0	1	1	4	4	3	3	4	2	2	2	4	2	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:65375157C>T	ENST00000530153.1	-	4	950	c.429G>A	c.(427-429)aaG>aaA	p.K143K	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.K400K|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGATCTCGCGCTTCCAGCCTT	0.617																																						uc001oew.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(1198-1200)aaG>aaA		Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.							60	64	63					11																	65375157		2201	4297	6498	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375157C>T		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.429G>A	11.37:g.65375157C>T						MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR	p.K400K	NM_002419	NP_002410	Q16584	M3K11_HUMAN			3	1693	-			400						Silent	SNP	ENST00000530153.1	37	c.1200G>A																																																																																					0.617	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			T	65375157	C	T	65375157	2	4	273	1	0	0	0	0	0	0	0	1	9245	796	28	3		3	MAP3K11	11	65375157	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	9693880	65375157	69631359	42	19503											
HEPHL1	341208	broad.mit.edu	37	chr11	93808410	93808410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggacagtgcctgagagCgtaagcccaactgctggtga	11	7	14	9	1	0	2	0	2	0	1	0	4	0	3	2	2	5	2	2	2	3	1	rs61746203		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:93808410C>T	ENST00000315765.9	+	9	1583	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	525	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCTGAGAGCGTAAGCCCAA	0.468																																						uc001pep.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1573-1575)agC>agT		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.		C		0,3998		0,0,1999	84	82	82		1575	-5.3	0.2	11	dbSNP_129	82	1,8339		0,1,4169	no	coding-synonymous	HEPHL1	NM_001098672.1		0,1,6168	TT,TC,CC		0.012,0.0,0.0081		525/1160	93808410	1,12337	1999	4170	6169	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93808410C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1575C>T	11.37:g.93808410C>T						AF086184_uc001pen.1_Intron	p.S525S	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			8	1732	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	525			Plastocyanin-like 3.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.1575C>T	CCDS44710.1																																																																																				0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93808410	C	T	93808410	2	4	273	1	0	0	0	0	0	0	0	1	7055	767	27	1		1	HEPHL1	11	93808410	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	28433253	93808410	41198106	43	19504											
PDZD3	79849	broad.mit.edu	37	chr11	119059542	119059542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcttccgactcagttGtgtggccagtgggcctcgtc	4	12	13	12	2	1	0	1	0	0	0	4	1	2	0	3	3	0	2	3	3	1	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:119059542G>T	ENST00000531114.1	+	7	2000	c.1451G>T	c.(1450-1452)tGt>tTt	p.C484F	PDZD3_ENST00000322712.4_Missense_Mutation_p.C404F|PDZD3_ENST00000392817.2_Missense_Mutation_p.C484F|PDZD3_ENST00000525131.1_Missense_Mutation_p.C405F|PDZD3_ENST00000355547.5_Missense_Mutation_p.C418F			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	484	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CGACTCAGTTGTGTGGCCAGT	0.572																																						uc001pwb.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(1450-1452)tGt>tTt		Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.							86	86	86					11																	119059542		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059542G>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1451G>T	11.37:g.119059542G>T	ENSP00000431164:p.Cys484Phe					PDZD3_uc001pvz.3_Missense_Mutation_p.C418F|PDZD3_uc010rzd.2_Missense_Mutation_p.C405F|PDZD3_uc001pvy.3_Missense_Mutation_p.C404F|PDZD3_uc001pwa.3_Missense_Mutation_p.C114F	p.C484F			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	6	1975	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	484			PDZ 4.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.1451G>T		.	.	.	.	.	.	.	.	.	.	G	5.066	0.197805	0.09652	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.06	2.09	0.27110	PDZ/DHR/GLGF (4);	0.424874	0.24988	N	0.034018	T	0.09024	0.0223	N	0.04508	-0.205	0.40165	D	0.9771	B;B;B;B	0.19817	0.039;0.028;0.009;0.011	B;B;B;B	0.24269	0.052;0.027;0.033;0.051	T	0.18967	-1.0320	10	0.09843	T	0.71	0.4237	4.6461	0.12572	0.1861:0.0:0.6404:0.1735	.	405;484;418;404	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	F	405;484;418;404;418;484	ENSP00000434559:C405F;ENSP00000431164:C484F;ENSP00000347742:C418F;ENSP00000327107:C404F;ENSP00000376564:C484F	ENSP00000327107:C404F	C	+	2	0	PDZD3	118564752	0.006000	0.16342	0.801000	0.32222	0.872000	0.50106	0.589000	0.23939	0.228000	0.21019	0.655000	0.94253	TGT		0.572	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		T	119059542	G	T	119059542	3	4	273	1	0	0	0	0	1	0	0	0	11702	1377	48	5	1287	5	PDZD3	11	119059542	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	25251132	119059542	15946974	44	19505											
CSDA	8531	broad.mit.edu	37	chr12	10854621	10854621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccggtaattgtagggacGccggtatccacggcgaacag	10	6	14	11	6	0	0	0	0	0	0	1	2	1	1	3	4	1	3	3	4	4	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:10854621G>A	ENST00000228251.4	-	8	1191	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	YBX3_ENST00000279550.7_Missense_Mutation_p.R262C|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	331					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TTGTAGGGACGCCGGTATCCA	0.567																																						uc001qyt.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19						c.(991-993)Cgt>Tgt		Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.							165	152	156					12																	10854621		2203	4300	6503	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10854621G>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.991C>T	12.37:g.10854621G>A	ENSP00000228251:p.Arg331Cys					CSDA_uc001qyu.3_Missense_Mutation_p.R262C	p.R331C	NM_003651	NP_003642	P16989	DBPA_HUMAN			7	1234	-	Glioma(1;0.155)		331					B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.991C>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725478	0.68959	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.38560	1.64;1.13	4.88	4.88	0.63580	.	0.074781	0.53938	D	0.000051	T	0.56920	0.2018	L	0.56340	1.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;P	0.80764	0.994;0.902	T	0.59637	-0.7417	10	0.87932	D	0	.	10.7191	0.46030	0.0:0.0:0.8093:0.1907	.	262;331	P16989-2;P16989	.;DBPA_HUMAN	C	262;331	ENSP00000279550:R262C;ENSP00000228251:R331C	ENSP00000228251:R331C	R	-	1	0	CSDA	10745888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.243000	0.73865	0.655000	0.94253	CGT		0.567	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		A	10854621	G	A	10854621	3	1	273	1	0	0	0	0	1	0	0	0	3927	1087	38	1	135	1	CSDA	12	10854621	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		10854621	122997274	45	19506											
KRT86	3892	broad.mit.edu	37	chr12	52699175	52699175	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgaggccgagtcctGgtaccgcagcaaggtgagtg	7	6	17	11	3	0	2	0	2	0	0	1	3	1	2	4	4	2	4	4	4	2	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:52699175G>A	ENST00000423955.2	+	7	1065	c.887G>A	c.(886-888)tGg>tAg	p.W296*	KRT86_ENST00000293525.5_Nonsense_Mutation_p.W296*|KRT86_ENST00000544024.1_Nonsense_Mutation_p.W296*|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	296	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGAGTCCTGGTACCGCAGC	0.542																																						uc010snq.2																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(886-888)tGg>tAg		Homo sapiens keratin 86 (KRT86), mRNA.							99	88	92					12																	52699175		2203	4300	6503	SO:0001587	stop_gained	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699175G>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.887G>A	12.37:g.52699175G>A	ENSP00000444533:p.Trp296*					KRT86_uc009zmg.3_Nonsense_Mutation_p.W296*|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Nonsense_Mutation_p.W296*	p.W296*	NM_002284	NP_002275	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1020	+			296			Coil 2.|Rod.		P78387	Nonsense_Mutation	SNP	ENST00000423955.2	37	c.887G>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	38	7.224508	0.98146	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	4.51	4.51	0.55191	.	0.000000	0.38959	U	0.001512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4621	0.75366	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000293525:W296X	W	+	2	0	AC021066.1;KRT86	50985442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.472000	0.60189	2.086000	0.62901	0.499000	0.49734	TGG		0.542	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		A	52699175	G	A	52699175	4	1	273	1	0	0	0	0	0	1	0	0	8500	1357	47	3	905	3	KRT86	12	52699175	Nonsense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	41844554	52699175	81152720	46	19507											
PTPRB	5787	broad.mit.edu	37	chr12	70990028	70990028	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaggtgacttttccggaAgaaggagtccaccaaacatg	13	9	11	8	1	0	3	0	2	0	1	2	5	2	5	3	3	1	0	3	3	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:70990028A>G	ENST00000261266.5	-	3	434	c.405T>C	c.(403-405)tcT>tcC	p.S135S	PTPRB_ENST00000334414.6_Silent_p.S353S|PTPRB_ENST00000550857.1_Silent_p.S135S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.S352S|PTPRB_ENST00000451516.2_Silent_p.S135S|PTPRB_ENST00000550358.1_Silent_p.S353S|PTPRB_ENST00000538708.1_Silent_p.S135S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	135	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTTCCGGAAGAAGGAGTCC	0.408																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(403-405)tcT>tcC		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							75	72	73					12																	70990028		1861	4105	5966	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70990028A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.405T>C	12.37:g.70990028A>G						PTPRB_uc010sto.2_Silent_p.S135S|PTPRB_uc010stp.2_Silent_p.S135S|PTPRB_uc001swc.4_Silent_p.S353S|PTPRB_uc001swa.4_Silent_p.S353S|PTPRB_uc001swd.4_Silent_p.S352S|PTPRB_uc009zrr.2_Silent_p.S232S|PTPRB_uc001swe.3_Silent_p.S353S	p.S135S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	435	-	Renal(347;0.236)		135			Fibronectin type-III 2.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.405T>C	CCDS44944.1																																																																																				0.408	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			G	70990028	A	G	70990028	2	3	273	1	0	0	0	0	0	0	0	1	12796	59	3	4		4	PTPRB	12	70990028	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	18290853	70990028	62861867	47	19508											
RIMBP2	23504	broad.mit.edu	37	chr12	130907060	130907060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccacggggaaacctcCggcccatgtgatccacccgt	7	6	11	17	4	0	1	0	1	0	0	2	2	2	2	6	3	2	1	6	3	1	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:130907060C>T	ENST00000261655.4	-	13	2571	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	803					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAAACCTCCGGCCCATGTG	0.567																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2407-2409)cGg>cAg		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							42	36	38					12																	130907060		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130907060C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2408G>A	12.37:g.130907060C>T	ENSP00000261655:p.Arg803Gln						p.R803Q	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2624	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	803					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2408G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152575	0.57259	.	.	ENSG00000060709	ENST00000261655	T	0.20463	2.07	4.9	2.76	0.32466	.	0.882556	0.09575	N	0.783724	T	0.19805	0.0476	L	0.56769	1.78	0.80722	D	1	B	0.23735	0.09	B	0.10450	0.005	T	0.05484	-1.0882	10	0.11794	T	0.64	-9.2794	9.6853	0.40094	0.0:0.7218:0.2024:0.0757	.	803	O15034	RIMB2_HUMAN	Q	803	ENSP00000261655:R803Q	ENSP00000261655:R803Q	R	-	2	0	RIMBP2	129473013	1.000000	0.71417	0.049000	0.19019	0.873000	0.50193	2.753000	0.47524	0.287000	0.22375	0.561000	0.74099	CGG		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130907060	C	T	130907060	3	4	273	1	0	0	0	0	1	0	0	0	13363	652	23	2	778	2	RIMBP2	12	130907060	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	59917032	130907060	2944835	48	19509											
SACS	26278	broad.mit.edu	37	chr13	23913301	23913301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaattcccgactcataaTgatgggaatgtcagtgatat	13	12	9	7	1	2	3	2	3	0	0	3	5	3	4	1	1	0	0	1	1	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:23913301T>C	ENST00000382292.3	-	9	4987	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	SACS_ENST00000402364.1_Missense_Mutation_p.I822V|SACS_ENST00000382298.3_Missense_Mutation_p.I1572V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1572					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGACTCATAATGATGGGAATG	0.338																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4714-4716)Att>Gtt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							88	86	87					13																	23913301		2200	4297	6497	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913301T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4714A>G	13.37:g.23913301T>C	ENSP00000371729:p.Ile1572Val					SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I1572V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	5303	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1572					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4714A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.116954	0.56505	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	6.16	4.97	0.65823	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.43923	1.385	0.38393	D	0.945443	B	0.23806	0.091	B	0.20184	0.028	T	0.76313	-0.3005	10	0.16896	T	0.51	.	13.7864	0.63112	0.0:0.0:0.1278:0.8722	.	1572	Q9NZJ4	SACS_HUMAN	V	1572;822;1572	ENSP00000371729:I1572V;ENSP00000385844:I822V;ENSP00000371735:I1572V	ENSP00000371729:I1572V	I	-	1	0	SACS	22811301	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.855000	0.62925	1.132000	0.42129	0.528000	0.53228	ATT		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23913301	T	C	23913301	3	2	273	1	0	0	0	0	1	0	0	0	13804	1464	51	4	9029	4	SACS	13	23913301	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08		23913301	91256577	49	19510											
RB1	5925	broad.mit.edu	37	chr13	48941694	48941694	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagatctagatgcaagatTatttttggatcatgataaaa	17	14	7	3	0	2	4	1	1	1	3	2	5	2	5	0	1	1	1	0	1	7	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:48941694T>G	ENST00000267163.4	+	10	1142	c.1004T>G	c.(1003-1005)tTa>tGa	p.L335*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	335					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GATGCAAGATTATTTTTGGAT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1003-1005)tTa>tGa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						72	86	81					13																	48941694		2193	4287	6480	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941694T>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1004T>G	13.37:g.48941694T>G	ENSP00000267163:p.Leu335*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.L36*	p.L335*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1170	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	335					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1004T>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	38	6.769777	0.97825	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9508	15.1364	0.72569	0.0:0.0:0.0:1.0	.	.	.	.	X	314;335	.	ENSP00000267163:L335X	L	+	2	0	RB1	47839695	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.813000	0.69201	2.039000	0.60335	0.482000	0.46254	TTA		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			G	48941694	T	G	48941694	4	3	273	1	0	0	0	0	0	1	0	0	13098	1764	61	5	1042	5	RB1	13	48941694	Nonsense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	25028393	48941694	66228184	50	19511											
FARP1	10160	broad.mit.edu	37	chr13	98865588	98865588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaacgtggacagaagcCgcccccaacaccttcaggaa	12	5	10	14	2	1	1	1	0	0	1	1	4	1	4	4	3	3	0	4	3	4	2	rs113972742	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:98865588C>T	ENST00000319562.6	+	2	357	c.92C>T	c.(91-93)cCg>cTg	p.P31L	FARP1_ENST00000376586.2_Missense_Mutation_p.P31L|FARP1_ENST00000595437.1_Missense_Mutation_p.P31L|FARP1_ENST00000376581.5_Missense_Mutation_p.P31L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	31					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACAGAAGCCGCCCCCAACA	0.537													C|||	3	0.000599042	0	0	5008	,	,		17555	0		0	False		,,,				2504	0.0031					uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(91-93)cCg>cTg		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							133	148	143					13																	98865588		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:98865588C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.92C>T	13.37:g.98865588C>T	ENSP00000322926:p.Pro31Leu					FARP1_uc001vni.3_Missense_Mutation_p.P31L|FARP1_uc001vnj.3_Missense_Mutation_p.P31L	p.P31L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		1	331	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		31					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.92C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434021	0.43224	.	.	ENSG00000152767	ENST00000376581;ENST00000376586;ENST00000319562	T;T;T	0.77489	0.85;-1.1;-0.94	5.75	1.62	0.23740	.	0.210025	0.40302	N	0.001122	T	0.58438	0.2122	N	0.20401	0.57	0.53005	D	0.999968	B;P;B	0.43024	0.006;0.798;0.013	B;B;B	0.35413	0.002;0.202;0.012	T	0.54774	-0.8243	10	0.34782	T	0.22	.	11.6241	0.51134	0.0:0.6785:0.0:0.3215	.	31;31;31	Q9Y4F1;Q5JVI9;C9JME2	FARP1_HUMAN;.;.	L	31	ENSP00000365765:P31L;ENSP00000365771:P31L;ENSP00000322926:P31L	ENSP00000322926:P31L	P	+	2	0	FARP1	97663589	0.328000	0.24687	0.967000	0.41034	0.993000	0.82548	0.879000	0.28146	0.374000	0.24650	0.655000	0.94253	CCG		0.537	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		T	98865588	C	T	98865588	3	4	273	1	0	0	0	0	1	0	0	0	5676	652	23	2	94	2	FARP1	13	98865588	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	49923894	98865588	16304290	51	19512											
OR11H12	440153	broad.mit.edu	37	chr14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaatatcatgactgggcAtctctgtgccaaactggtca	10	12	8	11	0	3	1	2	1	1	0	5	1	4	1	2	2	2	1	2	2	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:19378054A>C	ENST00000550708.1	+	1	533	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478																																						uc010tkp.2																			0		p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(460-462)cAt>cCt		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							135	145	141					14																	19378054		2201	4295	6496	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378054A>C		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.461A>C	14.37:g.19378054A>C	ENSP00000449002:p.His154Pro						p.H154P	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	461	+	all_cancers(95;0.00108)		154						Missense_Mutation	SNP	ENST00000550708.1	37	c.461A>C	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	a	1.637	-0.517562	0.04171	.	.	ENSG00000257115	ENST00000550708	T	0.37058	1.22	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	1.250020	0.05952	N	0.638954	T	0.23766	0.0575	N	0.20685	0.6	0.25105	N	0.99076	B	0.13594	0.008	B	0.16722	0.016	T	0.31779	-0.9931	9	0.49607	T	0.09	.	5.5303	0.16980	0.9999:0.0:1.0E-4:0.0	.	154	B2RN74	O11HC_HUMAN	P	154	ENSP00000449002:H154P	ENSP00000449002:H154P	H	+	2	0	CR383656.1	18448054	0.000000	0.05858	0.840000	0.33206	0.194000	0.23727	-0.719000	0.04974	0.518000	0.28383	0.055000	0.15244	CAT		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		C	19378054	A	C	19378054	3	2	273	1	0	0	0	0	1	0	0	0	10927	217	8	5	463	5	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		19378054	87971486	52	19513											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467294	102467294	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtttctctcgacagcttCgacaaaatttggatgccctc	9	14	7	11	2	1	0	0	0	1	0	5	3	1	1	1	1	2	2	1	1	3	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:102467294C>T	ENST00000360184.4	+	19	4242	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1360	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCGACAGCTTCGACAAAATTT	0.443																																						uc001yks.2																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(4078-4080)Cga>Tga		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							115	121	119					14																	102467294		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102467294C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4078C>T	14.37:g.102467294C>T	ENSP00000348965:p.Arg1360*						p.R1360*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			18	4242	+			1360			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.4078C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	46	12.119662	0.99638	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1360	.	ENSP00000348965:R1360X	R	+	1	2	DYNC1H1	101537047	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.071000	0.71229	2.767000	0.95098	0.563000	0.77884	CGA		0.443	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102467294	C	T	102467294	4	4	273	1	0	0	0	0	0	1	0	0	4841	876	31	2	4152	2	DYNC1H1	14	102467294	Nonsense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	83089240	102467294	4882246	53	19514											
EHD4	30844	broad.mit.edu	37	chr15	42193062	42193062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatctccttcttggcGttgacacctgatatcttgcc	6	14	7	14	1	4	2	1	2	3	0	5	2	4	2	4	1	1	1	4	1	1	5	rs201800565		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:42193062G>A	ENST00000220325.4	-	6	1490	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	469	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592																																						uc001zot.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1405-1407)aaC>aaT		Homo sapiens EH-domain containing 4 (EHD4), mRNA.							91	74	80					15																	42193062		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193062G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1407C>T	15.37:g.42193062G>A							p.N469N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	469			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1407C>T	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		A	42193062	G	A	42193062	2	1	273	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		42193062	60338330	54	19515											
KIF7	374654	broad.mit.edu	37	chr15	90188330	90188330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggcctgggccagcCgccactctgaggctgtggca	4	8	15	14	1	2	1	0	1	2	0	2	1	2	1	4	4	2	3	4	4	0	0	rs149078926	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:90188330C>T	ENST00000394412.3	-	10	2181	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	702	Sufficient for interaction with NPHP1.		R -> Q (in ACLS; hypomorphic mutation in vitro; may affect splicing). {ECO:0000269|PubMed:21552264}.		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCCAGCCGCCACTCTGA	0.652																																						uc002bof.2																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2104-2106)cGg>cAg		Homo sapiens kinesin family member 7 (KIF7), mRNA.			GLN/ARG	1,4397		0,1,2198	37	45	42		2105	4.7	1	15	dbSNP_134	42	3,8593		0,3,4295	yes	missense	KIF7	NM_198525.2	43	0,4,6493	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	702/1344	90188330	4,12990	2199	4298	6497	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90188330C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2105G>A	15.37:g.90188330C>T	ENSP00000377934:p.Arg702Gln					KIF7_uc010upw.1_Missense_Mutation_p.R188Q	p.R702Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		9	2182	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		702					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2105G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	25.5	4.641479	0.87859	2.27E-4	3.49E-4	ENSG00000166813	ENST00000394412	T	0.42513	0.97	4.68	4.68	0.58851	.	0.165067	0.53938	D	0.000057	T	0.58581	0.2132	M	0.63843	1.955	0.38360	D	0.944578	D;D	0.89917	1.0;0.999	D;P	0.67382	0.951;0.805	T	0.57653	-0.7774	10	0.15066	T	0.55	.	17.6022	0.88028	0.0:1.0:0.0:0.0	.	188;702	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	702	ENSP00000377934:R702Q	ENSP00000377934:R702Q	R	-	2	0	KIF7	87989334	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.474000	0.81024	2.147000	0.66899	0.454000	0.30748	CGG		0.652	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		T	90188330	C	T	90188330	3	4	273	1	0	0	0	0	1	0	0	0	8309	652	23	2	1966	2	KIF7	15	90188330	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47995268	90188330	12343062	55	19516											
NXN	64359	broad.mit.edu	37	chr17	708351	708351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgttaagctgcgcggcGttggagtcggagagctccag	6	8	15	12	5	0	1	0	0	0	1	3	3	1	2	2	3	3	4	2	3	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:708351G>A	ENST00000336868.3	-	6	1048	c.957C>T	c.(955-957)aaC>aaT	p.N319N	NXN_ENST00000575801.1_Silent_p.N211N|NXN_ENST00000538650.1_Intron|NXN_ENST00000537628.2_Silent_p.N70N	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	319	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCTGCGCGGCGTTGGAGTCGG	0.692																																						uc002fsa.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(955-957)aaC>aaT		Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.							19	20	20					17																	708351		2198	4298	6496	SO:0001819	synonymous_variant	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:708351G>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.957C>T	17.37:g.708351G>A						NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.N211N	p.N319N	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	5	1037	-			319			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	37	c.957C>T	CCDS10998.1																																																																																				0.692	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			A	708351	G	A	708351	2	1	273	1	0	0	0	0	0	0	0	1	10787	1136	40	1		1	NXN	17	708351	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		708351	80486859	56	19517											
TP53	7157	broad.mit.edu	37	chr17	7572986	7572986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggcgggaggtagactGaccctttttggacttcaggt	7	14	13	7	1	1	2	1	1	0	1	1	4	1	4	1	5	0	1	1	5	2	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7572986G>T	ENST00000269305.4	-	11	1312	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	TP53_ENST00000445888.2_Missense_Mutation_p.Q375K|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	375	Basic (repression of DNA-binding).|Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)|p.Q375*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGTAGACTGACCCTTTTTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		10	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)	p.0?(8)|p.Q375*(2)|p.?(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1123-1125)Cag>Aag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							193	173	180					17																	7572986		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7572986G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1123C>A	17.37:g.7572986G>T	ENSP00000269305:p.Gln375Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K	p.Q375K	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1317	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	375			Basic (repression of DNA-binding).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1123C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782377	0.31502	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	D;D	0.99129	-5.46;-5.46	5.31	3.18	0.36537	.	0.952987	0.08806	N	0.891079	D	0.96531	0.8868	L	0.46157	1.445	0.23972	N	0.996306	B	0.06786	0.001	B	0.06405	0.002	D	0.90204	0.4259	10	0.05721	T	0.95	-7.9939	7.7108	0.28677	0.0:0.1941:0.6294:0.1765	.	375	P04637	P53_HUMAN	K	375;375;364;26	ENSP00000269305:Q375K;ENSP00000391478:Q375K	ENSP00000269305:Q375K	Q	-	1	0	TP53	7513711	0.963000	0.33076	0.841000	0.33234	0.615000	0.37417	1.786000	0.38694	1.427000	0.47276	0.561000	0.74099	CAG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7572986	G	T	7572986	3	4	273	1	0	0	0	0	1	0	0	0	16378	1299	45	5	62	5	TP53	17	7572986	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	6864635	7572986	73622224	57	19518											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5	rs587780073		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM035576	TP53	M		c.(700-702)tAc>tGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							119	95	103					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.Y234C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577580	T	C	7577580	3	2	273	1	0	0	0	0	1	0	0	0	16378	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	4594	7577580	73617630	58	19519											
GRB7	2886	broad.mit.edu	37	chr17	37901165	37901165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcgaaatggccacaaGgggcttcggatcttctgcag	10	9	12	10	2	2	0	0	0	2	0	4	2	2	1	1	4	2	3	1	4	3	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:37901165G>C	ENST00000309156.4	+	9	1196	c.939G>C	c.(937-939)aaG>aaC	p.K313N	GRB7_ENST00000445327.2_Missense_Mutation_p.K336N|GRB7_ENST00000309185.3_Missense_Mutation_p.K313N|GRB7_ENST00000394204.1_Missense_Mutation_p.K313N|GRB7_ENST00000394211.3_Missense_Mutation_p.K313N|GRB7_ENST00000394209.2_Missense_Mutation_p.K313N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	313	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGCCACAAGGGGCTTCGGA	0.582																																						uc002hsr.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(937-939)aaG>aaC		Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.							48	51	50					17																	37901165		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901165G>C	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.939G>C	17.37:g.37901165G>C	ENSP00000310771:p.Lys313Asn					GRB7_uc002hss.3_Missense_Mutation_p.K313N|GRB7_uc021twu.1_Missense_Mutation_p.K336N|GRB7_uc010cwc.3_Missense_Mutation_p.K313N|GRB7_uc002hst.3_Missense_Mutation_p.K313N	p.K313N	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1214	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		313			PH.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.939G>C	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192174	0.78902	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.02	5.02	0.67125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.148042	0.64402	D	0.000011	T	0.42899	0.1223	M	0.86028	2.79	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.41610	-0.9499	10	0.87932	D	0	-34.1	8.9655	0.35874	0.1641:0.0:0.8359:0.0	.	313;313	Q14451-2;Q14451	.;GRB7_HUMAN	N	313;313;313;313;336;313	ENSP00000311752:K313N;ENSP00000310771:K313N;ENSP00000377761:K313N;ENSP00000377759:K313N;ENSP00000403459:K336N;ENSP00000377754:K313N	ENSP00000310771:K313N	K	+	3	2	GRB7	35154691	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.142000	0.50601	2.590000	0.87494	0.561000	0.74099	AAG		0.582	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		C	37901165	G	C	37901165	3	2	273	1	0	0	0	0	1	0	0	0	6759	991	35	5	969	5	GRB7	17	37901165	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	30323585	37901165	43294045	59	19520											
KRT25	147183	broad.mit.edu	37	chr17	38910206	38910206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagggttatttcatccaaaActcttcgtaacccattgaca	13	12	5	11	1	2	1	1	1	1	0	4	1	3	1	2	1	2	2	2	1	4	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:38910206A>G	ENST00000312150.4	-	3	635	c.575T>C	c.(574-576)gTt>gCt	p.V192A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCATCCAAAACTCTTCGTAA	0.403																																						uc002hve.3																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(574-576)gTt>gCt		Homo sapiens keratin 25 (KRT25), mRNA.							137	127	131					17																	38910206		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910206A>G	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.575T>C	17.37:g.38910206A>G	ENSP00000310573:p.Val192Ala						p.V192A	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			2	636	-		Breast(137;0.00526)	192			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.575T>C	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353723	0.61293	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88896	-2.44	5.92	3.68	0.42216	Filament (1);	0.212354	0.33075	N	0.005312	D	0.90421	0.7001	M	0.84846	2.72	0.41007	D	0.984972	B	0.29590	0.25	B	0.37346	0.247	D	0.88091	0.2813	10	0.87932	D	0	.	10.2938	0.43612	0.8657:0.0:0.1343:0.0	.	192	Q7Z3Z0	K1C25_HUMAN	A	192	ENSP00000310573:V192A	ENSP00000310573:V192A	V	-	2	0	KRT25	36163732	0.905000	0.30787	0.991000	0.47740	0.995000	0.86356	5.946000	0.70234	0.476000	0.27440	0.482000	0.46254	GTT		0.403	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		G	38910206	A	G	38910206	3	3	273	1	0	0	0	0	1	0	0	0	8462	43	2	4	801	4	KRT25	17	38910206	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08	1009041	38910206	42285004	60	19521											
INTS2	57508	broad.mit.edu	37	chr17	59946709	59946709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagatggaatacctgcGaccgtcagaggcaaaagttc	13	8	11	9	2	1	2	1	0	0	2	2	4	1	3	2	2	3	3	2	2	5	3	rs573904210		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:59946709G>A	ENST00000444766.3	-	22	3162	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_ENST00000251334.6_Silent_p.V1021V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1029					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.V1029V(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373													G|||	1	0.000199681	0	0	5008	,	,		16517	0		0	False		,,,				2504	0.001					uc002izn.3																			1	Substitution - coding silent(1)	p.V1029V(2)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(3085-3087)gtC>gtT		Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.							35	32	33					17																	59946709		1834	4084	5918	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59946709G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3087C>T	17.37:g.59946709G>A						INTS2_uc002izm.3_Silent_p.V1021V	p.V1029V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			21	3163	-			1029					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.3087C>T	CCDS45750.1																																																																																				0.373	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		A	59946709	G	A	59946709	2	1	273	1	0	0	0	0	0	0	0	1	7778	1045	37	2		2	INTS2	17	59946709	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	21036503	59946709	21248501	61	19522											
MRPS7	51081	broad.mit.edu	37	chr17	73258939	73258939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtactggccagatccctCatgattcaggtaaacagcac	14	8	8	11	0	2	2	2	1	0	1	3	2	3	2	2	2	3	3	2	2	4	3	rs376298524		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:73258939C>T	ENST00000245539.6	+	3	557	c.330C>T	c.(328-330)ctC>ctT	p.L110L	GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579002.1_Silent_p.L139L|GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Silent_p.L110L|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	110					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCAGATCCCTCATGATTCAGG	0.448																																						uc002jnm.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(328-330)ctC>ctT		Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.		C		1,4405		0,1,2202	228	190	203		330	3.5	1	17		203	0,8600		0,0,4300	no	coding-synonymous	MRPS7	NM_015971.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		110/243	73258939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258939C>T	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.330C>T	17.37:g.73258939C>T						GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	p.L110L	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	563	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		110					B2R9N5|Q53GD6	Silent	SNP	ENST00000245539.6	37	c.330C>T	CCDS11718.1																																																																																				0.448	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		T	73258939	C	T	73258939	2	4	273	1	0	0	0	0	0	0	0	1	9848	813	29	3		3	MRPS7	17	73258939	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	13312230	73258939	7936271	62	19523											
GAMT	2593	broad.mit.edu	37	chr19	1397419	1397419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtagcggcagtcggccGgtgggaccagcgccatcacc	7	5	15	14	5	1	0	1	0	0	0	2	1	1	1	4	4	2	3	4	4	2	2	rs139890971		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:1397419G>A	ENST00000252288.2	-	6	716	c.650C>T	c.(649-651)cCg>cTg	p.P217L	AC005329.7_ENST00000585596.1_RNA|AC005329.7_ENST00000589734.1_RNA|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	217	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	GCAGTCGGCCGGTGGGACCAG	0.701																																					Colon(167;1531 1939 13427 28842 31956)	uc002lsj.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6						c.(649-651)cCg>cTg		Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	Creatine(DB00148)						84	78	80					19																	1397419		2201	4300	6501	SO:0001583	missense	2593				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity	g.chr19:1397419G>A	Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.650C>T	19.37:g.1397419G>A	ENSP00000252288:p.Pro217Leu					AK126693_uc002lsi.1_5'Flank	p.P217L	NM_000156	NP_000147	Q14353	GAMT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	727	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)	217					A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	ENST00000252288.2	37	c.650C>T	CCDS12064.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937226	0.92458	.	.	ENSG00000130005	ENST00000252288	D	0.87491	-2.26	5.08	5.08	0.68730	.	0.107964	0.64402	D	0.000004	D	0.92756	0.7697	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	P	0.60949	0.881	D	0.93340	0.6709	10	0.54805	T	0.06	.	15.9511	0.79840	0.0:0.0:1.0:0.0	.	217	Q14353	GAMT_HUMAN	L	217	ENSP00000252288:P217L	ENSP00000252288:P217L	P	-	2	0	GAMT	1348419	1.000000	0.71417	0.305000	0.25099	0.807000	0.45602	9.470000	0.97683	2.365000	0.80145	0.561000	0.74099	CCG		0.701	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1	NM_138924		A	1397419	G	A	1397419	3	1	273	1	0	0	0	0	1	0	0	0	6231	1116	39	2	64	2	GAMT	19	1397419	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		1397419	57731564	63	19524											
TJP3	27134	broad.mit.edu	37	chr19	3738562	3738562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctggcaggtgaatgacGtgccattccagaacctgaca	10	10	10	11	1	1	4	0	3	1	1	2	4	2	4	3	2	2	1	3	2	2	2	rs538012849		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:3738562G>A	ENST00000541714.2	+	12	1756	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	TJP3_ENST00000587686.1_Missense_Mutation_p.V451M|TJP3_ENST00000262968.9_Missense_Mutation_p.V465M|TJP3_ENST00000382008.3_Missense_Mutation_p.V446M|TJP3_ENST00000589378.1_Missense_Mutation_p.V441M|TJP3_ENST00000539908.2_Missense_Mutation_p.V396M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	432	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGAATGACGTGCCATTCCA	0.577													G|||	1	0.000199681	0	0	5008	,	,		20568	0		0.001	False		,,,				2504	0					uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1393-1395)Gtg>Atg		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							125	108	114					19																	3738562		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3738562G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1294G>A	19.37:g.3738562G>A	ENSP00000439278:p.Val432Met					TJP3_uc010xhs.2_Missense_Mutation_p.V432M|TJP3_uc010xht.2_Missense_Mutation_p.V396M|TJP3_uc010xhu.2_Missense_Mutation_p.V441M|TJP3_uc010xhw.2_Missense_Mutation_p.V451M	p.V465M	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1393	+			446					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1393G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470210	0.26423	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.94	-7.11	0.01542	PDZ/DHR/GLGF (4);	1.173790	0.06148	N	0.673556	T	0.14098	0.0341	N	0.20574	0.59	0.09310	N	1	B;B;B;B	0.34329	0.37;0.449;0.423;0.37	B;B;B;B	0.27887	0.042;0.084;0.071;0.042	T	0.18618	-1.0331	10	0.20046	T	0.44	.	9.2509	0.37554	0.6929:0.2114:0.0957:0.0	.	451;465;446;432	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	M	432;396;446;465	ENSP00000439278:V432M;ENSP00000439991:V396M;ENSP00000371438:V446M;ENSP00000262968:V465M	ENSP00000262968:V465M	V	+	1	0	TJP3	3689562	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	-0.391000	0.07323	-1.173000	0.02758	-0.339000	0.08088	GTG		0.577	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3738562	G	A	3738562	3	1	273	1	0	0	0	0	1	0	0	0	15928	1145	40	1	1435	1	TJP3	19	3738562	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	2341143	3738562	55390421	64	19525											
PNPLA6	10908	broad.mit.edu	37	chr19	7607932	7607932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtcttgctgcaccacGccaaagctggcaccatcatt	10	8	9	14	1	2	1	1	0	1	1	2	1	2	1	3	1	3	5	3	1	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:7607932G>A	ENST00000221249.6	+	16	1884	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PNPLA6_ENST00000414982.3_Missense_Mutation_p.A533T|PNPLA6_ENST00000545201.2_Intron|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A524T|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A485T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	524					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCACCACGCCAAAGCTGG	0.627																																						uc010xjq.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1597-1599)Gcc>Acc		Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.							77	64	68					19																	7607932		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7607932G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1453G>A	19.37:g.7607932G>A	ENSP00000221249:p.Ala485Thr					PNPLA6_uc002mgq.2_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.3_Missense_Mutation_p.A524T	p.A533T	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN			14	1837	+			524					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1597G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754865	0.49362	.	.	ENSG00000032444	ENST00000221249;ENST00000414982;ENST00000544207;ENST00000450331	D;D;D	0.92647	-3.08;-3.08;-3.08	5.32	4.27	0.50696	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.50333	1.59	0.58432	D	0.999994	D;D;D	0.61697	0.99;0.988;0.974	P;P;B	0.54210	0.745;0.629;0.325	D	0.92223	0.5786	10	0.66056	D	0.02	.	12.1351	0.53966	0.0848:0.0:0.9152:0.0	.	524;524;485	Q8IY17;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.	T	485;533;422;485	ENSP00000221249:A485T;ENSP00000407509:A533T;ENSP00000394348:A485T	ENSP00000221249:A485T	A	+	1	0	PNPLA6	7513932	1.000000	0.71417	0.999000	0.59377	0.168000	0.22595	7.359000	0.79477	1.242000	0.43836	0.462000	0.41574	GCC		0.627	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7607932	G	A	7607932	3	1	273	1	0	0	0	0	1	0	0	0	12169	1087	38	1	1651	1	PNPLA6	19	7607932	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	3869370	7607932	51521051	65	19526											
SLC1A6	6511	broad.mit.edu	37	chr19	15067342	15067342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagcatgcccccaatgaagGggaaggggttccggtgagtg	9	7	17	8	1	0	2	0	2	0	0	1	3	1	3	3	5	2	3	3	5	4	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15067342G>C	ENST00000221742.3	-	6	1122	c.1115C>G	c.(1114-1116)cCc>cGc	p.P372R	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P308R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	372					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCCAATGAAGGGGAAGGGGTT	0.592																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1114-1116)cCc>cGc		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						158	121	133					19																	15067342		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067342G>C		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1115C>G	19.37:g.15067342G>C	ENSP00000221742:p.Pro372Arg					SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R	p.P372R	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	1122	-			372					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1115C>G	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	4.347	0.063921	0.08388	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.56103	0.48;0.48	3.96	3.96	0.45880	.	0.317322	0.33110	N	0.005278	T	0.34395	0.0896	N	0.11023	0.085	0.80722	D	1	B;B	0.17667	0.023;0.004	B;B	0.36885	0.235;0.01	T	0.15752	-1.0426	10	0.17832	T	0.49	-23.6006	7.6712	0.28460	0.1155:0.0:0.8845:0.0	.	308;372	E7EV13;P48664	.;EAA4_HUMAN	R	308;372	ENSP00000409386:P308R;ENSP00000221742:P372R	ENSP00000221742:P372R	P	-	2	0	SLC1A6	14928342	0.938000	0.31826	1.000000	0.80357	0.987000	0.75469	1.169000	0.31871	2.225000	0.72522	0.591000	0.81541	CCC		0.592	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		C	15067342	G	C	15067342	3	2	273	1	0	0	0	0	1	0	0	0	14436	1232	43	5	595	5	SLC1A6	19	15067342	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	7459410	15067342	44061641	66	19527											
RASAL3	64926	broad.mit.edu	37	chr19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttggagagtcgaaggCgactggtccgtgactccttg	6	9	16	10	3	0	2	0	1	0	1	3	5	2	2	3	4	0	0	3	4	1	2	rs201278861		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15574925C>T	ENST00000343625.7	-	2	330	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	82					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672																																						uc002nbe.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(244-246)cGc>cAc		Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.							19	22	21					19																	15574925		2001	4174	6175	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574925C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.245G>A	19.37:g.15574925C>T	ENSP00000341905:p.Arg82His						p.R82H	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			1	331	-			82					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.245G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810290	0.32053	.	.	ENSG00000105122	ENST00000343625	T	0.26810	1.71	4.11	3.06	0.35304	.	0.000000	0.32548	U	0.005960	T	0.24044	0.0582	M	0.62723	1.935	0.33498	D	0.589532	B	0.18310	0.027	B	0.12156	0.007	T	0.21280	-1.0250	10	0.38643	T	0.18	.	8.428	0.32739	0.0:0.8856:0.0:0.1144	.	82	Q86YV0	RASL3_HUMAN	H	82	ENSP00000341905:R82H	ENSP00000341905:R82H	R	-	2	0	RASAL3	15435925	0.995000	0.38212	0.916000	0.36221	0.339000	0.28857	2.074000	0.41529	1.029000	0.39812	0.462000	0.41574	CGC		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		T	15574925	C	T	15574925	3	4	273	1	0	0	0	0	1	0	0	0	13065	768	27	1	2858	1	RASAL3	19	15574925	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	507583	15574925	43554058	67	19528											
F2RL3	9002	broad.mit.edu	37	chr19	17000842	17000842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgcgccctgcgtggcCggcgcctggcccttggactc	1	6	16	18	5	0	0	0	0	0	0	1	1	0	1	5	5	1	0	5	5	0	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:17000842C>T	ENST00000248076.3	+	2	898	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	190					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGCGTGGCCGGCGCCTGGC	0.711																																						uc002nfa.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(568-570)Cgg>Tgg		Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.																																				SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000842C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.568C>T	19.37:g.17000842C>T	ENSP00000248076:p.Arg190Trp						p.R190W	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			1	743	+			190					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.568C>T	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	8.762	0.923860	0.18056	.	.	ENSG00000127533	ENST00000248076	T	0.73152	-0.72	4.15	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	1.372930	0.05526	N	0.563055	T	0.59390	0.2190	L	0.41573	1.285	0.09310	N	1	B	0.22346	0.068	B	0.15052	0.012	T	0.45323	-0.9269	10	0.48119	T	0.1	.	3.2081	0.06672	0.1755:0.5523:0.1704:0.1017	.	190	Q96RI0	PAR4_HUMAN	W	190	ENSP00000248076:R190W	ENSP00000248076:R190W	R	+	1	2	F2RL3	16861842	0.000000	0.05858	0.013000	0.15412	0.349000	0.29174	0.192000	0.17096	0.174000	0.19809	-0.479000	0.04858	CGG		0.711	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			T	17000842	C	T	17000842	3	4	273	1	0	0	0	0	1	0	0	0	5346	643	23	2	574	2	F2RL3	19	17000842	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	1425917	17000842	42128141	68	19529											
RASGRP4	115727	broad.mit.edu	37	chr19	38909096	38909096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcccgggacggctcagcaCcatcacctgcacccagcggg	7	3	14	17	3	2	0	2	0	0	0	2	1	2	1	4	4	3	3	4	4	0	0	rs372706430		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38909096C>G	ENST00000587738.1	-	7	842	c.772G>C	c.(772-774)Gtg>Ctg	p.V258L	RASGRP4_ENST00000587753.1_Missense_Mutation_p.V258L|RASGRP4_ENST00000293062.9_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.V244L|RASGRP4_ENST00000454404.2_Missense_Mutation_p.V224L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.V258L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	258	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCTCAGCACCATCACCTGC	0.662																																						uc021uub.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(772-774)Gtg>Ctg		Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.		C	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL,,,LEU/VAL	0,4174		0,0,2087	25	32	30		730,772,772,670,,,772	3.7	1	19		30	1,8385		0,1,4192	no	missense,missense,missense,missense,intron,intron,missense	RASGRP4	NM_001146202.1,NM_001146203.1,NM_001146204.1,NM_001146205.1,NM_001146206.1,NM_001146207.1,NM_170604.2	32,32,32,32,,,32	0,1,6279	GG,GC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging	244/660,258/582,258/605,224/640,,,258/674	38909096	1,12559	2087	4193	6280	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38909096C>G	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.772G>C	19.37:g.38909096C>G	ENSP00000465772:p.Val258Leu					RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.V258L|RASGRP4_uc021uua.1_Missense_Mutation_p.V224L|RASGRP4_uc021uuc.1_Missense_Mutation_p.V258L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.V244L	p.V258L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	986	-	all_cancers(60;4.21e-06)		258			Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.772G>C	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707432	0.48412	0.0	1.19E-4	ENSG00000171777	ENST00000433821;ENST00000405332;ENST00000454404	T	0.32988	1.43	4.72	3.68	0.42216	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.195166	0.43919	D	0.000520	T	0.50274	0.1606	M	0.75085	2.285	0.41747	D	0.98964	D;D;D;D;D	0.69078	0.97;0.997;0.97;0.987;0.997	D;D;D;D;D	0.80764	0.978;0.994;0.978;0.918;0.994	T	0.52495	-0.8568	10	0.87932	D	0	-18.3011	7.2573	0.26183	0.0:0.8041:0.0:0.1959	.	258;224;258;244;258	C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;GRP4_HUMAN	L	258	ENSP00000411878:V258L	ENSP00000384614:V258L	V	-	1	0	RASGRP4	43600936	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	2.094000	0.41719	1.194000	0.43101	-0.291000	0.09656	GTG		0.662	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		G	38909096	C	G	38909096	3	3	273	1	0	0	0	0	1	0	0	0	13077	507	18	5	1293	5	RASGRP4	19	38909096	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	21908254	38909096	20219887	69	19530											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccctcagtacctggcGtgttgtcacgtgaaatgctg	7	10	13	11	3	2	1	2	1	0	0	2	2	2	1	2	2	2	3	2	2	2	2	rs200888407		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:51919569G>A	ENST00000339313.5	-	4	865	c.749C>T	c.(748-750)aCg>aTg	p.T250M	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T250M|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.T167M|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.T250M|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T202M|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T192M|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T250M			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	250					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547													g|||	1	0.000199681	8e-04	0	5008	,	,		16377	0		0	False		,,,				2504	0					uc002pwo.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(748-750)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.							120	121	121					19																	51919569		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919569G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.749C>T	19.37:g.51919569G>A	ENSP00000345243:p.Thr250Met					SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	p.T250M	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	971	-		all_neural(266;0.0199)	250					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.749C>T	CCDS12832.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	8.262	0.811381	0.16537	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T;T;T	0.62364	0.86;2.14;1.66;0.73;1.95;1.84;0.6;1.89;0.73;0.03	4.4	-8.8	0.00817	.	1.373680	0.04807	N	0.434525	T	0.45316	0.1336	L	0.51422	1.61	0.09310	N	1	B;B;P;B;B;B;P	0.51147	0.162;0.403;0.942;0.108;0.33;0.287;0.607	B;B;B;B;B;B;B	0.40199	0.029;0.026;0.322;0.063;0.071;0.064;0.066	T	0.53222	-0.8469	10	0.46703	T	0.11	.	2.474	0.04571	0.2499:0.4272:0.1259:0.197	.	202;250;192;250;192;192;250	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	M	250;167;192;250;192;250;192;202;250;64	ENSP00000342389:T250M;ENSP00000396742:T167M;ENSP00000395475:T192M;ENSP00000348646:T250M;ENSP00000408387:T192M;ENSP00000431444:T250M;ENSP00000389132:T192M;ENSP00000414324:T202M;ENSP00000345243:T250M;ENSP00000435281:T64M	ENSP00000345243:T250M	T	-	2	0	SIGLEC10	56611381	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.445000	0.02401	-1.642000	0.01521	-0.680000	0.03767	ACG		0.547	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51919569	G	A	51919569	3	1	273	1	0	0	0	0	1	0	0	0	14306	1145	40	1	1376	1	SIGLEC10	19	51919569	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	13010473	51919569	7209414	70	19531											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564824	58564824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcttgcctctgaagcCgagtatctgggacgagcctg	6	8	14	13	3	2	1	0	1	2	0	2	4	2	2	4	2	3	2	4	2	2	2	rs370250109		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:58564824C>T	ENST00000282326.1	+	6	879	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	211					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCTGAAGCCGAGTATCTGG	0.652																																						uc002qrc.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(631-633)cCg>cTg		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.		C	LEU/PRO	0,4406		0,0,2203	50	53	52		632	1	0	19		52	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZSCAN1	NM_182572.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	211/409	58564824	1,13003	2203	4299	6502	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564824C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.632C>T	19.37:g.58564824C>T	ENSP00000282326:p.Pro211Leu						p.P211L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	879	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	211					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.632C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680656	0.29872	0.0	1.16E-4	ENSG00000152467	ENST00000282326	T	0.05139	3.49	1.04	1.04	0.20106	.	.	.	.	.	T	0.03608	0.0103	N	0.14661	0.345	0.80722	D	1	B	0.22080	0.064	B	0.15052	0.012	T	0.44862	-0.9300	9	0.33940	T	0.23	.	7.9385	0.29944	0.0:1.0:0.0:0.0	.	211	Q8NBB4	ZSCA1_HUMAN	L	211	ENSP00000282326:P211L	ENSP00000282326:P211L	P	+	2	0	ZSCAN1	63256636	0.003000	0.15002	0.041000	0.18516	0.008000	0.06430	1.335000	0.33839	0.863000	0.35553	0.491000	0.48974	CCG		0.652	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58564824	C	T	58564824	3	4	273	1	0	0	0	0	1	0	0	0	18223	652	23	2	646	2	ZSCAN1	19	58564824	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	6645255	58564824	564159	71	19532											
ZNF831	128611	broad.mit.edu	37	chr20	57768855	57768855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccacctcaggctcctagAgtgctctctgccctggcaga	7	8	9	17	0	2	2	1	0	1	2	4	2	3	2	5	2	2	3	5	2	1	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:57768855A>C	ENST00000371030.2	+	1	2781	c.2781A>C	c.(2779-2781)agA>agC	p.R927S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	927							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCTCCTAGAGTGCTCTCTG	0.632																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2779-2781)agA>agC		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							47	48	48					20																	57768855		1945	4146	6091	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768855A>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2781A>C	20.37:g.57768855A>C	ENSP00000360069:p.Arg927Ser						p.R927S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	2781	+	all_lung(29;0.0085)		927					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2781A>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	0.721	-0.783460	0.02907	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	3.83	-7.66	0.01277	.	1.891880	0.03125	N	0.164318	T	0.01695	0.0054	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42982	-0.9419	10	0.16420	T	0.52	5.1889	1.0163	0.01508	0.2014:0.133:0.2672:0.3984	.	927	Q5JPB2	ZN831_HUMAN	S	927	ENSP00000360069:R927S	ENSP00000360069:R927S	R	+	3	2	ZNF831	57202250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.429000	0.02437	-2.830000	0.00339	-1.140000	0.01884	AGA		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		C	57768855	A	C	57768855	3	2	273	1	0	0	0	0	1	0	0	0	18182	301	11	5	2783	5	ZNF831	20	57768855	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		57768855	5256665	72	19533											
CDH4	1002	broad.mit.edu	37	chr20	60503346	60503346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggaggcgcagatctgcGagaagcccaacctgaacgcc	12	3	12	14	3	1	3	0	1	1	2	1	5	1	4	4	2	4	1	4	2	4	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60503346G>A	ENST00000360469.5	+	12	1958	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CDH4_ENST00000543233.1_Missense_Mutation_p.E550K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	624	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGATCTGCGAGAAGCCCAA	0.642																																						uc002ybn.2																			0		p.C623C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1870-1872)Gag>Aag		Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.							115	118	117					20																	60503346		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503346G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1870G>A	20.37:g.60503346G>A	ENSP00000353656:p.Glu624Lys					CDH4_uc002ybr.2_Missense_Mutation_p.E587K|CDH4_uc002ybp.2_Missense_Mutation_p.E550K	p.E624K	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		11	1958	+			624			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1870G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032266	0.75504	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60672	0.17;0.17	4.56	4.56	0.56223	Cadherin (1);Cadherin-like (1);	0.050514	0.85682	D	0.000000	T	0.60077	0.2241	L	0.60904	1.88	0.80722	D	1	D	0.60575	0.988	P	0.46629	0.522	T	0.63616	-0.6597	9	.	.	.	.	17.3109	0.87210	0.0:0.0:1.0:0.0	.	624	P55283	CADH4_HUMAN	K	624;532;550	ENSP00000353656:E624K;ENSP00000443301:E550K	.	E	+	1	0	CDH4	59936741	1.000000	0.71417	0.606000	0.28943	0.028000	0.11728	9.503000	0.97984	2.062000	0.61559	0.462000	0.41574	GAG		0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60503346	G	A	60503346	3	1	273	1	0	0	0	0	1	0	0	0	3112	1059	37	2	1916	2	CDH4	20	60503346	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	2734491	60503346	2522174	73	19534											
HRH3	11255	broad.mit.edu	37	chr20	60793588	60793588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcgtagctgatgagcaCgatgttgaaggcagaggagg	10	7	18	6	3	0	4	0	3	0	1	1	6	0	5	0	4	2	5	0	4	2	2	rs142903103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60793588C>T	ENST00000340177.5	-	2	660	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	HRH3_ENST00000317393.6_Missense_Mutation_p.V126M	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	126					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CTGATGAGCACGATGTTGAAG	0.647																																						uc002yci.3																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(376-378)Gtg>Atg		Homo sapiens histamine receptor H3 (HRH3), mRNA.	Histamine Phosphate(DB00667)	C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	63	49	54		376	4.7	1	20	dbSNP_134	54	0,8598		0,0,4299	no	missense	HRH3	NM_007232.2	21	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	126/446	60793588	1,12999	2201	4299	6500	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60793588C>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.376G>A	20.37:g.60793588C>T	ENSP00000342560:p.Val126Met					HRH3_uc002ycf.2_Missense_Mutation_p.V126M|HRH3_uc002ych.3_Missense_Mutation_p.V126M|HRH3_uc002ycg.3_Missense_Mutation_p.V126M	p.V126M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		1	673	-	Breast(26;7.76e-09)		126					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.376G>A	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706960	0.89018	2.27E-4	0.0	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.72942	-0.7;-0.7	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.994;0.999;0.997	D;P;D;D	0.91635	0.999;0.903;0.937;0.951	T	0.83052	-0.0152	10	0.56958	D	0.05	-27.4541	17.5272	0.87804	0.0:1.0:0.0:0.0	.	126;126;126;126	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	M	126	ENSP00000342560:V126M;ENSP00000321482:V126M	ENSP00000321482:V126M	V	-	1	0	HRH3	60226983	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.854000	0.69503	2.131000	0.65755	0.462000	0.41574	GTG		0.647	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		T	60793588	C	T	60793588	3	4	273	1	0	0	0	0	1	0	0	0	7357	536	19	1	969	1	HRH3	20	60793588	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	290242	60793588	2231932	74	19535											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768677	31768677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccttgctctgcagtccCtgccagacaacttactctgg	7	11	7	16	0	2	1	0	0	2	1	4	1	4	1	4	1	5	2	4	1	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:31768677C>T	ENST00000355459.2	+	1	286	c.273C>T	c.(271-273)ccC>ccT	p.P91P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	91	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAGTCCCTGCCAGACAA	0.612																																						uc002yoa.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(271-273)ccC>ccT		Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.							70	69	69					21																	31768677		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768677C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.273C>T	21.37:g.31768677C>T							p.P91P	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			0	286	+			91			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.273C>T	CCDS13590.2																																																																																				0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			T	31768677	C	T	31768677	2	4	273	1	0	0	0	0	0	0	0	1	8522	668	24	3		3	KRTAP13-1	21	31768677	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		31768677	16361218	75	19536											
FAM3B	54097	broad.mit.edu	37	chr21	42720528	42720528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcagactgaataaCgatgccaagaatgccataga	14	9	9	9	1	0	4	0	1	0	3	1	5	1	4	3	0	4	1	3	0	5	3	rs370045496		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:42720528C>T	ENST00000357985.2	+	7	641	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FAM3B_ENST00000398652.3_Silent_p.N204N|FAM3B_ENST00000398647.3_Silent_p.N117N|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.N188N	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	165					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GACTGAATAACGATGCCAAGA	0.463																																						uc002yzb.1																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(493-495)aaC>aaT		Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.							109	95	100					21																	42720528		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42720528C>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"pancreatic-derived factor"	608617	"chromosome 21 open reading frame 11"	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.495C>T	21.37:g.42720528C>T						FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.N117N	p.N165N	NM_058186	NP_478066	P58499	FAM3B_HUMAN			6	641	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	165						Silent	SNP	ENST00000357985.2	37	c.495C>T	CCDS13671.1																																																																																				0.463	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		T	42720528	C	T	42720528	2	4	273	1	0	0	0	0	0	0	0	1	5557	535	19	1		1	FAM3B	21	42720528	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	10951851	42720528	5409367	76	19537											
MSL3	10943	broad.mit.edu	37	chrX	11790368	11790371	+	Frame_Shift_Del	DEL	TTGT	TTGT	-																															gggcacaacatttgctgcgaTtgtttggtaagaatcctggt																										TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:11790368_11790371delTTGT	ENST00000312196.4	+	11	1480_1483	c.1375_1378delTTGT	c.(1375-1380)ttgtttfs	p.LF459fs	MSL3_ENST00000380693.3_Frame_Shift_Del_p.LF293fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.LF447fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.LF310fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	459	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTGCTGCGATTGTTTGGTAAGAA	0.451																																						uc004cuw.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1375-1380)ttgtttfs		Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790368_11790371delTTGT	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1375_1378delTTGT	X.37:g.11790368_11790371delTTGT	ENSP00000312244:p.Leu459fs					MSL3_uc011mig.2_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.2_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.L293fs	p.L459fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN			10	1480_1483	+			459					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Frame_Shift_Del	DEL	ENST00000312196.4	37	c.1375_1378delTTGT	CCDS14147.1																																																																																				0.451	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		-	11790371	TTGT	-	11790368	7	5	273	1	0	1	0	1	0	0	0	0	9879	1490	52	0	1497	0	MSL3	23	11790368	Frame_Shift_Del	DEL	TTGT	TCGA-76-6286-01A-11D-1845-08		11790368	143480192	77	19538											
KCND1	3750	broad.mit.edu	37	chrX	48819889	48819889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaagaggcaaggggtacCcaggctggagttcctgaggg	9	5	20	7	0	0	2	0	1	0	1	1	4	1	4	2	8	1	4	2	8	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:48819889C>T	ENST00000218176.3	-	6	3194	c.1897G>A	c.(1897-1899)Ggt>Agt	p.G633S	KCND1_ENST00000376477.1_Missense_Mutation_p.G256S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	633					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CAAGGGGTACCCAGGCTGGAG	0.612																																						uc004dlx.1																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1897-1899)Ggt>Agt		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.							28	25	26					X																	48819889		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48819889C>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1897G>A	X.37:g.48819889C>T	ENSP00000218176:p.Gly633Ser					KCND1_uc004dlw.1_Missense_Mutation_p.G256S	p.G633S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			5	3470	-			633					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1897G>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	c	14.02	2.412012	0.42817	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95885	-3.36;-3.84	5.32	5.32	0.75619	.	0.527843	0.18532	N	0.138476	D	0.90031	0.6887	N	0.22421	0.69	0.27722	N	0.945101	B	0.12013	0.005	B	0.04013	0.001	T	0.80386	-0.1404	10	0.25751	T	0.34	.	10.634	0.45554	0.1911:0.8089:0.0:0.0	.	633	Q9NSA2	KCND1_HUMAN	S	256;633	ENSP00000365660:G256S;ENSP00000218176:G633S	ENSP00000218176:G633S	G	-	1	0	KCND1	48704833	0.891000	0.30450	0.842000	0.33263	0.832000	0.47134	1.710000	0.37920	2.220000	0.72140	0.431000	0.28591	GGT		0.612	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		T	48819889	C	T	48819889	3	4	273	1	0	0	0	0	1	0	0	0	8018	623	22	3	50	3	KCND1	23	48819889	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	37029521	48819889	106450671	78	19539											
VSIG4	11326	broad.mit.edu	37	chrX	65242302	65242302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcgaagatggccacccTcatggtttctccagagtcgt	8	11	10	12	2	2	2	1	0	1	2	4	3	2	2	3	2	1	1	3	2	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:65242302T>C	ENST00000374737.4	-	8	1111	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	VSIG4_ENST00000412866.2_Missense_Mutation_p.R241G|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	335					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGCCACCCTCATGGTTTCT	0.567																																						uc004dwh.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1003-1005)Agg>Ggg		Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.							60	42	48					X																	65242302		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242302T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1003A>G	X.37:g.65242302T>C	ENSP00000363869:p.Arg335Gly					VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR	p.R335G	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			7	1130	-			335					Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.1003A>G	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	T	8.246	0.807985	0.16467	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.39592	1.13;1.07	4.51	4.51	0.55191	.	0.137936	0.33075	N	0.005306	T	0.44705	0.1306	M	0.69823	2.125	0.36363	D	0.860831	P;P	0.44139	0.827;0.598	B;B	0.44044	0.439;0.188	T	0.57676	-0.7770	10	0.48119	T	0.1	-5.2728	9.2632	0.37625	0.0:0.0:0.0:1.0	.	241;335	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	G	335;241	ENSP00000363869:R335G;ENSP00000394143:R241G	ENSP00000363869:R335G	R	-	1	2	VSIG4	65159027	0.001000	0.12720	0.022000	0.16811	0.031000	0.12232	0.885000	0.28227	1.787000	0.52448	0.417000	0.27973	AGG		0.567	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		C	65242302	T	C	65242302	3	2	273	1	0	0	0	0	1	0	0	0	17222	1550	54	4	200	4	VSIG4	23	65242302	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	16422413	65242302	90028258	79	19540											
USP26	83844	broad.mit.edu	37	chrX	132161219	132161219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaaaaaaaagtagccGtgccaagcacatggtaagag	17	8	9	7	1	1	1	0	0	1	1	1	1	1	1	2	1	3	3	2	1	7	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:132161219G>A	ENST00000511190.1	-	6	1499	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	USP26_ENST00000370832.1_Missense_Mutation_p.R344W|USP26_ENST00000406273.1_Missense_Mutation_p.R344W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	344	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTAGCCGTGCCAAGCAC	0.378																																					NSCLC(104;342 1621 36940 47097 52632)	uc011mvf.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1030-1032)Cgg>Tgg		Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.							34	36	35					X																	132161219		2197	4288	6485	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161219G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1030C>T	X.37:g.132161219G>A	ENSP00000423390:p.Arg344Trp					USP26_uc010nrm.1_Missense_Mutation_p.R344W	p.R344W	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			0	1082	-	Acute lymphoblastic leukemia(192;0.000127)		344					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1030C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166360	0.38217	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.32023	1.47;1.47;1.47	3.71	2.85	0.33270	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.532585	0.13822	N	0.360341	T	0.37972	0.1023	L	0.38175	1.15	0.09310	N	1	D	0.61697	0.99	P	0.59595	0.86	T	0.09975	-1.0650	10	0.62326	D	0.03	-1.6362	8.7988	0.34896	0.1175:0.0:0.8825:0.0	.	344	Q9BXU7	UBP26_HUMAN	W	344	ENSP00000359869:R344W;ENSP00000423390:R344W;ENSP00000384360:R344W	ENSP00000359869:R344W	R	-	1	2	USP26	131988885	0.719000	0.27986	0.002000	0.10522	0.010000	0.07245	1.903000	0.39858	0.948000	0.37687	-0.381000	0.06696	CGG		0.378	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		A	132161219	G	A	132161219	3	1	273	1	0	0	0	0	1	0	0	0	17054	1144	40	1	1714	1	USP26	23	132161219	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	66918917	132161219	23109341	80	19541											
AFF2	2334	broad.mit.edu	37	chrX	147924922	147924922	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtggaatgacccaacCaccagagcttctacaaagtc	14	7	8	12	0	2	3	1	1	1	2	3	4	2	4	3	1	3	1	3	1	4	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:147924922C>A	ENST00000370460.2	+	7	1706	c.1227C>A	c.(1225-1227)acC>acA	p.T409T	AFF2_ENST00000370458.1_Silent_p.T376T|AFF2_ENST00000370457.5_Silent_p.T376T|AFF2_ENST00000342251.3_Silent_p.T376T|AFF2_ENST00000286437.5_Silent_p.T50T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	409					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCCAACCACCAGAGCTT	0.378																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1225-1227)acC>acA		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							141	120	127					X																	147924922		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924922C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1227C>A	X.37:g.147924922C>A						AFF2_uc004fco.3_Silent_p.T376T|AFF2_uc004fcq.3_Silent_p.T405T|AFF2_uc004fcr.3_Silent_p.T376T|AFF2_uc011mxb.2_Silent_p.T380T|AFF2_uc004fcs.3_Silent_p.T376T|AFF2_uc011mxc.2_Silent_p.T50T	p.T409T	NM_002025	NP_002016	P51816	AFF2_HUMAN			6	1706	+	Acute lymphoblastic leukemia(192;6.56e-05)		409					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1227C>A	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	147924922	C	A	147924922	2	1	273	1	0	0	0	0	0	0	0	1	357	581	21	5		5	AFF2	23	147924922	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	15763703	147924922	7345638	81	19542											
FLNA	2316	broad.mit.edu	37	chrX	153588445	153588445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggggaagttgggcaCgggctggccgccgtacttga	5	9	17	10	3	0	1	0	1	0	0	0	2	0	2	2	5	2	5	2	5	2	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:153588445C>T	ENST00000369850.3	-	22	3954	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.V1240M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1240M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1240M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1240					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627																																						uc004fkk.2																			0				breast(6)	6						c.(3718-3720)Gtg>Atg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							31	36	34					X																	153588445		2034	4140	6174	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588445C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3718G>A	X.37:g.153588445C>T	ENSP00000358866:p.Val1240Met					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3967	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1240					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3718G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366645	0.61513	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.42	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.97732	0.9256	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.969	D	0.98457	1.0594	10	0.87932	D	0	.	11.8792	0.52564	0.0:0.9135:0.0:0.0865	.	1240;1240	P21333-2;P21333	.;FLNA_HUMAN	M	1240;1213;1240;1240;1240	ENSP00000353467:V1240M;ENSP00000416926:V1240M;ENSP00000358866:V1240M;ENSP00000358863:V1240M	ENSP00000358863:V1240M	V	-	1	0	FLNA	153241639	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	4.872000	0.63050	2.046000	0.60703	0.529000	0.55759	GTG		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153588445	C	T	153588445	3	4	273	1	0	0	0	0	1	0	0	0	5933	536	19	1	4333	1	FLNA	23	153588445	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	5663523	153588445	1682115	82	19543											
CDA	978	broad.mit.edu	37	chr1	20944980	20944980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtacatgaccaagccGgatggtacgtatattgtcat	10	11	10	10	3	1	1	1	1	0	0	1	2	1	2	3	2	3	3	3	2	5	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:20944980G>A	ENST00000375071.3	+	4	542	c.360G>A	c.(358-360)ccG>ccA	p.P120P	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	120					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGACCAAGCCGGATGGTACGT	0.587																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(358-360)ccG>ccA		Homo sapiens cytidine deaminase (CDA), mRNA.	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						95	76	82					1																	20944980		2203	4300	6503	SO:0001819	synonymous_variant	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20944980G>A	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.360G>A	1.37:g.20944980G>A						CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	p.P120P	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	539	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	120						Silent	SNP	ENST00000375071.3	37	c.360G>A	CCDS210.1																																																																																				0.587	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		A	20944980	G	A	20944980	2	1	274	1	0	0	0	0	0	0	0	1	3052	1103	39	2		2	CDA	1	20944980	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		20944980	228305641	1	19544											
GRIK3	2899	broad.mit.edu	37	chr1	37356675	37356675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctgggcgttggggccGtccgcatactcgaagattcc	7	9	13	12	4	0	2	0	1	0	1	3	3	2	2	4	3	1	2	4	3	2	3	rs150456185	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:37356675G>A	ENST00000373091.3	-	2	154	c.138C>T	c.(136-138)gaC>gaT	p.D46D	GRIK3_ENST00000373093.4_Silent_p.D46D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	46					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTTGGGGCCGTCCGCATACT	0.507																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(136-138)gaC>gaT		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)	A		0,4406		0,0,2203	222	204	210		138	-8.2	0.1	1	dbSNP_134	210	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIK3	NM_000831.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		46/920	37356675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356675G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.138C>T	1.37:g.37356675G>A						GRIK3_uc001cba.1_Silent_p.D46D	p.D46D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			1	273	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	46					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.138C>T	CCDS416.1																																																																																				0.507	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		A	37356675	G	A	37356675	2	1	274	1	0	0	0	0	0	0	0	1	6775	1136	40	1		1	GRIK3	1	37356675	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	16411695	37356675	211893946	2	19545											
PTPRF	5792	broad.mit.edu	37	chr1	44086251	44086251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggtcacggatgcccggGtgagtgagtgcattgagtgt	8	10	16	7	2	2	3	2	3	0	0	2	4	2	4	1	3	2	1	1	3	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:44086251G>A	ENST00000359947.4	+	31	5704		c.e31+1		PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGCCCGGGTGAGTGAGTG	0.547																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.e31+1		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							185	152	163					1																	44086251		2203	4300	6503	SO:0001630	splice_region_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086251G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5364+1G>A	1.37:g.44086251G>A						PTPRF_uc001cjs.3_Splice_Site_p.R1779_splice|PTPRF_uc001cju.3_Splice_Site_p.R1177_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1348_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1259_splice|PTPRF_uc001cjw.3_Splice_Site_p.R1014_splice	p.R1788_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN			31	5704	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1788			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Splice_Site	SNP	ENST00000359947.4	37	c.5364_splice	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308165	0.81247	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000412568;ENST00000429895;ENST00000414879;ENST00000422171;ENST00000372407	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6545	0.95831	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRF	43858838	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.807000	0.99171	2.816000	0.96949	0.563000	0.77884	.		0.547	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		Intron	A	44086251	G	A	44086251	5	1	274	1	0	0	0	0	0	0	1	0	12801	1275	44	3	5479	3	PTPRF	1	44086251	Splice_Site	SNP	G	TCGA-76-6656-01A-11D-1845-08	6729576	44086251	205164370	3	19546											
NEGR1	257194	broad.mit.edu	37	chr1	72058647	72058647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattccttgttggccattgaAgagcctagaagacaaaataa	16	10	8	7	0	0	4	0	1	0	3	1	4	1	4	3	1	1	1	3	1	7	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:72058647A>G	ENST00000357731.5	-	6	1032	c.793T>C	c.(793-795)Ttc>Ctc	p.F265L	NEGR1_ENST00000306821.3_Missense_Mutation_p.F137L|NEGR1_ENST00000434200.1_Missense_Mutation_p.F219L	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	265	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGGCCATTGAAGAGCCTAGAA	0.373																																						uc001dfw.3																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(793-795)Ttc>Ctc		Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.							74	73	73					1																	72058647		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72058647A>G	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.793T>C	1.37:g.72058647A>G	ENSP00000350364:p.Phe265Leu					NEGR1_uc001dfv.3_Missense_Mutation_p.F137L|NEGR1_uc010oqs.2_Missense_Mutation_p.F221L	p.F265L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	5	1021	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	265			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.793T>C	CCDS661.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.316950	0.23908	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.66099	-0.19;-0.19;-0.19	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.249150	0.38436	N	0.001697	T	0.21347	0.0514	N	0.05414	-0.055	0.34993	D	0.755251	B;B	0.12013	0.001;0.005	B;B	0.19666	0.012;0.026	T	0.13442	-1.0509	10	0.16896	T	0.51	-12.6237	9.7175	0.40283	0.7419:0.0:0.0:0.2581	.	219;265	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	L	265;137;219	ENSP00000350364:F265L;ENSP00000305938:F137L;ENSP00000413294:F219L	ENSP00000305938:F137L	F	-	1	0	NEGR1	71831235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.111000	0.64628	2.225000	0.72522	0.533000	0.62120	TTC		0.373	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		G	72058647	A	G	72058647	3	3	274	1	0	0	0	0	1	0	0	0	10317	72	3	4	279	4	NEGR1	1	72058647	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	27972396	72058647	177191974	4	19547											
COL24A1	255631	broad.mit.edu	37	chr1	86282552	86282552	+	Frame_Shift_Del	DEL	T	T	-																															ccatggtatccttgtatgccTtttggcccaagtaggccttg																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:86282552delT	ENST00000370571.2	-	47	4236	c.3870delA	c.(3868-3870)aaafs	p.K1290fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.K1290fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1290	Collagen-like 14.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTATGCCTTTTGGCCCAA	0.388																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3868-3870)aaafs		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							134	130	131					1																	86282552		1847	4093	5940	SO:0001589	frameshift_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86282552delT	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3870delA	1.37:g.86282552delT	ENSP00000359603:p.Lys1290fs					COL24A1_uc001dli.3_Frame_Shift_Del_p.K426fs|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Frame_Shift_Del_p.K590fs|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.K1290fs	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	46	3945	-			1290			Collagen-like 14.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	ENST00000370571.2	37	c.3870delA	CCDS41353.1																																																																																				0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		-	86282552	T	-	86282552	7	5	274	1	0	1	0	1	0	0	0	0	3683	1606	56	0	1330	0	COL24A1	1	86282552	Frame_Shift_Del	DEL	T	TCGA-76-6656-01A-11D-1845-08	14223905	86282552	162968069	5	19548											
HFM1	164045	broad.mit.edu	37	chr1	91740328	91740328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttttggagtaaaaccaaaCtctttaaggtccacactttg	12	13	8	8	0	1	0	0	0	1	0	2	1	2	1	2	3	2	2	2	3	4	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:91740328C>T	ENST00000370425.3	-	33	3725	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	HFM1_ENST00000294696.5_Silent_p.E441E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.E888E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1209					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAACCAAACTCTTTAAGGT	0.299																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3625-3627)gaG>gaA		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							68	72	71					1																	91740328		2203	4299	6502	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91740328C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3627G>A	1.37:g.91740328C>T						HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.E888E|HFM1_uc001dob.4_Silent_p.E397E|HFM1_uc010osv.1_Silent_p.E893E	p.E1209E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	32	3726	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1209					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3627G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	5.134	0.210279	0.09757	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.29	-1.04	0.10068	.	.	.	.	.	T	0.22820	0.0551	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	.	1.2195	0.01921	0.1535:0.2608:0.1506:0.4351	.	.	.	.	N	421	.	.	S	-	2	0	HFM1	91512916	0.447000	0.25673	0.970000	0.41538	0.736000	0.42039	-0.787000	0.04618	-0.047000	0.13423	0.460000	0.39030	AGT		0.299	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91740328	C	T	91740328	2	4	274	1	0	0	0	0	0	0	0	1	7083	564	20	3		3	HFM1	1	91740328	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	5457776	91740328	157510293	6	19549											
FAM102B	284611	broad.mit.edu	37	chr1	109167309	109167309	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaattgctggtgaatcTgaatctttgcaagaagatag	14	12	9	6	0	2	4	0	2	2	2	2	4	2	4	1	1	3	2	1	1	7	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:109167309T>C	ENST00000370035.3	+	6	835	c.495T>C	c.(493-495)tcT>tcC	p.S165S	FAM102B_ENST00000405454.1_Silent_p.S165S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	165										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTGGTGAATCTGAATCTTTGC	0.403																																						uc010ouy.2																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(493-495)tcT>tcC		Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.							171	172	172					1																	109167309		2203	4300	6503	SO:0001819	synonymous_variant	284611							g.chr1:109167309T>C	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.495T>C	1.37:g.109167309T>C							p.S165S	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	5	575	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	165					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Silent	SNP	ENST00000370035.3	37	c.495T>C	CCDS30786.2																																																																																				0.403	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		C	109167309	T	C	109167309	2	2	274	1	0	0	0	0	0	0	0	1	5383	1567	55	4		4	FAM102B	1	109167309	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	17426981	109167309	140083312	7	19550											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						uc001ezs.1																			1	Substitution - Missense(1)	p.R432K(2)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)agacaafs		Homo sapiens repetin (RPTN), mRNA.																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.R432fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1360_1363	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		-	152128280	TGTC	-	152128277	7	5	274	1	0	1	0	1	0	0	0	0	13664	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-76-6656-01A-11D-1845-08	42960968	152128277	97122344	8	19551											
FLG	2312	broad.mit.edu	37	chr1	152282565	152282565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgagtgtccctcactGtccctgtcctgactaacact	6	14	6	15	0	3	2	1	2	2	0	6	2	6	2	3	0	1	0	3	0	1	2	rs370333585		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152282565G>C	ENST00000368799.1	-	3	4832	c.4797C>G	c.(4795-4797)gaC>gaG	p.D1599E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1599	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTCCCTGTCCT	0.592									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4795-4797)gaC>gaG		Homo sapiens filaggrin (FLG), mRNA.		G	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	147	156	153		4797	-2.1	0	1		153	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	45	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	1599/4062	152282565	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282565G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4797C>G	1.37:g.152282565G>C	ENSP00000357789:p.Asp1599Glu						p.D1599E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4833	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1599			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4797C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520387	0.27211	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.27890	1.64	3.15	-2.09	0.07232	.	.	.	.	.	T	0.08044	0.0201	M	0.64404	1.975	0.09310	N	1	P	0.42735	0.788	B	0.41202	0.35	T	0.25293	-1.0136	9	0.08837	T	0.75	.	1.999	0.03463	0.1284:0.3614:0.3264:0.1838	.	1599	P20930	FILA_HUMAN	E	1599	ENSP00000357789:D1599E	ENSP00000357789:D1599E	D	-	3	2	FLG	150549189	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	-1.006000	0.03671	-0.571000	0.06014	-0.494000	0.04653	GAC		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152282565	G	C	152282565	3	2	274	1	0	0	0	0	1	0	0	0	5922	1368	48	5	7392	5	FLG	1	152282565	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	154288	152282565	96968056	9	19552											
HDGF	3068	broad.mit.edu	37	chr1	156713958	156713958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggcagcagttacctcCagcaagtcccctgctctcct	7	8	10	16	0	1	0	0	0	1	0	4	0	3	0	5	2	4	6	5	2	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:156713958C>T	ENST00000357325.5	-	4	800	c.486G>A	c.(484-486)ctG>ctA	p.L162L	HDGF_ENST00000368206.5_Silent_p.L178L|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Silent_p.L155L|HDGF_ENST00000416666.2_Silent_p.L130L|HDGF_ENST00000537739.1_Silent_p.L162L	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	162	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGTTACCTCCAGCAAGTCCC	0.612																																						uc001fpy.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(484-486)ctG>ctA		Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.							232	197	209					1																	156713958		2203	4300	6503	SO:0001819	synonymous_variant	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713958C>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.486G>A	1.37:g.156713958C>T						HDGF_uc009wsd.3_Silent_p.L130L|HDGF_uc001fpz.4_Silent_p.L155L|HDGF_uc009wse.3_Silent_p.L178L|HDGF_uc010phr.2_Silent_p.L185L|HDGF_uc009wsf.3_Silent_p.L130L	p.L162L	NM_004494	NP_004485	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	3	808	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	162			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Silent	SNP	ENST00000357325.5	37	c.486G>A	CCDS1156.1																																																																																				0.612	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		T	156713958	C	T	156713958	2	4	274	1	0	0	0	0	0	0	0	1	7018	581	21	3		3	HDGF	1	156713958	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	4431393	156713958	92536663	10	19553											
PTGS2	5743	broad.mit.edu	37	chr1	186645642	186645642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaacaactgctcatcaccCcattcaggatgctcctgttt	9	12	7	13	0	3	0	3	0	0	0	4	2	4	2	3	2	4	3	3	2	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:186645642C>T	ENST00000367468.5	-	7	1063	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	309					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GCTCATCACCCCATTCAGGAT	0.448																																						uc001gsb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(925-927)tgG>tgA		Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						155	150	152					1																	186645642		2203	4300	6503	SO:0001587	stop_gained	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645642C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.927G>A	1.37:g.186645642C>T	ENSP00000356438:p.Trp309*					PTGS2_uc009wyo.3_Nonsense_Mutation_p.W156*	p.W309*	NM_000963	NP_000954	P35354	PGH2_HUMAN			6	1064	-			309					A8K802|Q16876	Nonsense_Mutation	SNP	ENST00000367468.5	37	c.927G>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	38	7.116720	0.98074	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9713	19.4407	0.94820	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000356438:W309X	W	-	3	0	PTGS2	184912265	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.627000	0.83176	2.586000	0.87340	0.650000	0.86243	TGG		0.448	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		T	186645642	C	T	186645642	4	4	274	1	0	0	0	0	0	1	0	0	12756	624	22	3	903	3	PTGS2	1	186645642	Nonsense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	29931684	186645642	62604979	11	19554											
OR6F1	343169	broad.mit.edu	37	chr1	247875393	247875393	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgaggatggtgctgAtgatgtacacataggagaca	12	9	14	6	0	0	4	0	3	0	1	1	7	1	6	1	4	2	2	1	4	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:247875393A>C	ENST00000302084.2	-	1	712	c.665T>G	c.(664-666)aTc>aGc	p.I222S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGGTGCTGATGATGTACAC	0.532																																						uc001idj.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(664-666)aTc>aGc		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.							130	114	120					1																	247875393		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875393A>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.665T>G	1.37:g.247875393A>C	ENSP00000305640:p.Ile222Ser						p.I222S	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	665	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		222					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.665T>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	9.427	1.084588	0.20309	.	.	ENSG00000169214	ENST00000302084	T	0.00202	8.56	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000449	T	0.00580	0.0019	M	0.85099	2.735	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29822	-0.9999	10	0.87932	D	0	-28.5269	11.6743	0.51422	1.0:0.0:0.0:0.0	.	222	Q8NGZ6	OR6F1_HUMAN	S	222	ENSP00000305640:I222S	ENSP00000305640:I222S	I	-	2	0	OR6F1	245942016	0.001000	0.12720	0.031000	0.17742	0.026000	0.11368	0.828000	0.27435	1.672000	0.50884	0.482000	0.46254	ATC		0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		C	247875393	A	C	247875393	3	2	274	1	0	0	0	0	1	0	0	0	11201	333	12	5	265	5	OR6F1	1	247875393	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	61229751	247875393	1375228	12	19555											
C2orf89	129293	broad.mit.edu	37	chr2	85051303	85051303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggacagagtgggccGtgtggaggtctttttactct	6	13	16	6	1	2	1	0	0	2	1	2	4	2	3	1	5	1	0	1	5	1	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:85051303G>A	ENST00000409520.2	-	6	1150	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R321W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	370					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										AGAGTGGGCCGTGTGGAGGTC	0.567																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1108-1110)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							76	81	80					2																	85051303		2131	4251	6382	SO:0001583	missense	129293					integral to membrane		g.chr2:85051303G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1108C>T	2.37:g.85051303G>A	ENSP00000387075:p.Arg370Trp					C2orf89_uc002sou.4_Missense_Mutation_p.R321W	p.R370W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1197	-			370					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1108C>T		.	.	.	.	.	.	.	.	.	.	g	13.17	2.156264	0.38021	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.23754	1.89;1.9	3.62	1.75	0.24633	.	3.417790	0.01383	U	0.012981	T	0.23289	0.0563	.	.	.	0.09310	N	1	D;D	0.62365	0.963;0.991	B;B	0.43123	0.183;0.409	T	0.19910	-1.0291	9	0.62326	D	0.03	.	4.4875	0.11797	0.1336:0.2593:0.6071:0.0	.	370;321	Q86V40;Q86V40-2	CB089_HUMAN;.	W	321;370	ENSP00000335004:R321W;ENSP00000387075:R370W	ENSP00000335004:R321W	R	-	1	2	C2orf89	84904814	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.174000	0.09839	0.847000	0.35167	0.298000	0.19748	CGG		0.567	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		A	85051303	G	A	85051303	3	1	274	1	0	0	0	0	1	0	0	0	2203	1144	40	1	417	1	C2orf89	2	85051303	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		85051303	158148070	13	19556											
MYO7B	4648	broad.mit.edu	37	chr2	128384614	128384614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtggacgccgcccGcctgcagtggccgctgctct	3	7	16	15	4	1	0	0	0	1	0	1	1	1	1	4	4	2	4	4	4	0	0	rs201087000		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:128384614G>A	ENST00000409816.2	+	30	4234	c.4202G>A	c.(4201-4203)cGc>cAc	p.R1401H	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1401H|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.R254H|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1401H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1401	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACGCCGCCCGCCTGCAGTGG	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		16589	0		0	False		,,,				2504	0					uc002top.3																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(4201-4203)cGc>cAc		Homo sapiens myosin VIIB (MYO7B), mRNA.		G	HIS/ARG	6,4024		0,6,2009	16	21	19		4202	0.8	0.5	2		19	0,8342		0,0,4171	yes	missense	MYO7B	NM_001080527.1	29	0,6,6180	AA,AG,GG		0.0,0.1489,0.0485	benign	1401/2117	128384614	6,12366	2015	4171	6186	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384614G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4202G>A	2.37:g.128384614G>A	ENSP00000386461:p.Arg1401His					MYO7B_uc002toq.1_Missense_Mutation_p.R254H|MYO7B_uc002tor.1_Missense_Mutation_p.R254H	p.R1401H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	30	4255	+	Colorectal(110;0.1)		1401			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4202G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	19.58	3.853534	0.71719	0.001489	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	4.88	0.787	0.18596	Band 4.1 domain (1);FERM domain (1);	0.359519	0.28521	N	0.015054	D	0.94588	0.8256	L	0.57536	1.79	0.27589	N	0.94932	D	0.71674	0.998	P	0.55161	0.77	D	0.90316	0.4341	10	0.45353	T	0.12	.	14.4022	0.67056	0.0:0.0:0.4953:0.5046	.	1401	Q6PIF6	MYO7B_HUMAN	H	1401;1401;254;1401;254	ENSP00000374175:R1401H;ENSP00000415090:R1401H;ENSP00000386461:R1401H;ENSP00000386850:R254H	ENSP00000272666:R254H	R	+	2	0	MYO7B	128101084	1.000000	0.71417	0.490000	0.27465	0.547000	0.35210	3.632000	0.54287	-0.023000	0.13963	-0.277000	0.10078	CGC		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128384614	G	A	128384614	3	1	274	1	0	0	0	0	1	0	0	0	10083	1087	38	1	4320	1	MYO7B	2	128384614	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	43333311	128384614	114814759	14	19557											
YSK4	80122	broad.mit.edu	37	chr2	135738842	135738842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacaccatctcaggcaatgGcccaaaacggtttataatac	15	8	7	11	1	1	0	1	0	1	0	2	1	1	0	2	3	3	2	2	3	7	4	rs372912449		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:135738842G>A	ENST00000375845.3	-	9	3499	c.3469C>T	c.(3469-3471)Cca>Tca	p.P1157S	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.P18S|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P291S|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P339S|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P289S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P1044S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGCAATGGCCCAAAACGG	0.418																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3469-3471)Cca>Tca		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.		G	SER/PRO,SER/PRO	0,4406		0,0,2203	123	121	122		1015,3469	5.8	1	2		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	YSK4	NM_001018046.1,NM_025052.3	74,74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	339/511,1157/1329	135738842	1,13005	2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738842G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3469C>T	2.37:g.135738842G>A	ENSP00000365005:p.Pro1157Ser					YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc021vpz.1_Missense_Mutation_p.P18S|YSK4_uc002tuh.4_Missense_Mutation_p.P885S|YSK4_uc002tui.4_3'UTR	p.P1157S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3500	-			1157			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3469C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421334	0.62622	0.0	1.16E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000316	T	0.39306	0.1073	L	0.35414	1.06	0.80722	D	1	P;D;P;P;D	0.60575	0.476;0.988;0.669;0.669;0.961	B;D;P;B;D	0.65874	0.241;0.931;0.473;0.376;0.939	T	0.02326	-1.1176	10	0.21540	T	0.41	.	18.9458	0.92621	0.0:0.0:1.0:0.0	.	289;1044;291;339;1157	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	S	1157;1044;339;291;289;547;18	ENSP00000365005:P1157S;ENSP00000351140:P1044S;ENSP00000365004:P339S;ENSP00000376650:P291S;ENSP00000376649:P289S;ENSP00000392827:P547S;ENSP00000321160:P18S	ENSP00000321160:P18S	P	-	1	0	YSK4	135455312	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.614000	0.98353	2.714000	0.92807	0.563000	0.77884	CCA		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135738842	G	A	135738842	3	1	274	1	0	0	0	0	1	0	0	0	17492	1203	42	3	525	3	YSK4	2	135738842	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	7354228	135738842	107460531	15	19558											
FMNL2	114793	broad.mit.edu	37	chr2	153463859	153463859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgtttcaggtttgtGgagaaaaacagcgctttgag	11	13	13	4	1	1	2	1	1	0	1	1	3	1	2	0	2	2	3	0	2	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:153463859G>A	ENST00000288670.9	+	10	1250	c.883G>A	c.(883-885)Gga>Aga	p.G295R		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	295	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGGTTTGTGGAGAAAAACA	0.313																																						uc002tye.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(883-885)Gga>Aga		Homo sapiens formin-like 2 (FMNL2), mRNA.							90	85	87					2																	153463859		1851	4099	5950	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153463859G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.883G>A	2.37:g.153463859G>A	ENSP00000288670:p.Gly295Arg						p.G295R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			9	1250	+			295			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.883G>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454692	0.63290	.	.	ENSG00000157827	ENST00000288670	D	0.87256	-2.23	5.68	5.68	0.88126	.	0.297548	0.38837	N	0.001551	T	0.81678	0.4873	N	0.20881	0.62	0.80722	D	1	B	0.29646	0.253	B	0.30646	0.118	T	0.77803	-0.2451	10	0.35671	T	0.21	.	19.3863	0.94557	0.0:0.0:1.0:0.0	.	295	Q96PY5-3	.	R	295	ENSP00000288670:G295R	ENSP00000288670:G295R	G	+	1	0	FMNL2	153172105	0.986000	0.35501	0.999000	0.59377	0.995000	0.86356	2.585000	0.46111	2.694000	0.91930	0.557000	0.71058	GGA		0.313	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		A	153463859	G	A	153463859	3	1	274	1	0	0	0	0	1	0	0	0	5952	1349	47	3	921	3	FMNL2	2	153463859	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	17725017	153463859	89735514	16	19559											
DNAH12	201625	broad.mit.edu	37	chr3	57493504	57493504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcattatcttctcttctgCgtttctagtttgtattgata	7	22	5	7	1	5	1	1	1	4	0	6	1	5	1	0	0	1	3	0	0	4	10	rs373483492		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:57493504C>A	ENST00000351747.2	-	8	943	c.763G>T	c.(763-765)Gca>Tca	p.A255S	DNAH12_ENST00000311202.6_Missense_Mutation_p.A255S|DNAH12_ENST00000389536.4_Missense_Mutation_p.A255S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	255	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTCTTCTGCGTTTCTAGTT	0.333																																						uc003dit.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(763-765)Gca>Tca		Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.		C	SER/ALA,SER/ALA	1,4405	2.1+/-5.4	0,1,2202	162	152	156		763,763	0.9	0.9	3		156	0,8600		0,0,4300	no	missense,missense	DNAH12	NM_198564.3,NM_178504.4	99,99	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign	255/458,255/3093	57493504	1,13005	2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493504C>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.763G>T	3.37:g.57493504C>A	ENSP00000295937:p.Ala255Ser					DNAH12_uc003diu.2_Missense_Mutation_p.A255S	p.A255S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			7	944	-			255			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.763G>T		.	.	.	.	.	.	.	.	.	.	C	14.81	2.647472	0.47258	2.27E-4	0.0	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.24151	2.04;1.87;3.33;2.76	5.45	0.859	0.19036	.	0.613258	0.14378	N	0.323308	T	0.15392	0.0371	L	0.35854	1.095	0.80722	D	1	B;B	0.33494	0.414;0.002	B;B	0.28991	0.097;0.004	T	0.08868	-1.0701	10	0.31617	T	0.26	.	5.323	0.15891	0.2639:0.5136:0.0:0.2224	.	255;255	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	S	255	ENSP00000295937:A255S;ENSP00000418137:A255S;ENSP00000374187:A255S;ENSP00000312554:A255S	ENSP00000312554:A255S	A	-	1	0	DNAH12	57468544	0.960000	0.32886	0.891000	0.34965	0.987000	0.75469	0.123000	0.15708	0.224000	0.20940	0.655000	0.94253	GCA		0.333	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		A	57493504	C	A	57493504	3	1	274	1	0	0	0	0	1	0	0	0	4600	768	27	5	8766	5	DNAH12	3	57493504	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		57493504	140528926	17	19560											
SEMA5B	54437	broad.mit.edu	37	chr3	122632727	122632727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcccggctcttgcccaCgcagatgcggcccccgtggc	3	8	11	19	4	1	1	0	0	1	1	3	1	3	1	5	3	2	2	5	3	0	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:122632727C>T	ENST00000357599.3	-	15	2496	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V704M|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V758M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	704	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTTGCCCACGCAGATGCGG	0.657																																						uc003efz.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(2110-2112)Gtg>Atg		Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.							49	53	52					3																	122632727		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632727C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2110G>A	3.37:g.122632727C>T	ENSP00000350215:p.Val704Met					SEMA5B_uc011bju.1_Missense_Mutation_p.V646M|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.V704M|SEMA5B_uc010hro.1_Missense_Mutation_p.V646M|SEMA5B_uc003efy.1_5'Flank	p.V704M	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2414	-			704			TSP type-1 1.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2110G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676421	0.88445	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.02	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.75447	2.3	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73014	-0.4116	10	0.87932	D	0	.	14.4169	0.67155	0.0:0.8516:0.1484:0.0	.	646;704;704	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	M	704;704;646;758;704	ENSP00000350215:V704M;ENSP00000195173:V704M;ENSP00000389588:V758M;ENSP00000377208:V704M	ENSP00000195173:V704M	V	-	1	0	SEMA5B	124115417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.633000	0.83260	1.306000	0.44926	0.555000	0.69702	GTG		0.657	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122632727	C	T	122632727	3	4	274	1	0	0	0	0	1	0	0	0	14038	536	19	1	1381	1	SEMA5B	3	122632727	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	65139223	122632727	75389703	18	19561											
RTP1	132112	broad.mit.edu	37	chr3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatccacgtggccagccGccaggacaaccggcggcacc	8	2	12	19	5	0	0	0	0	0	0	1	1	1	1	7	4	2	2	7	4	1	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:186917605G>A	ENST00000312295.4	+	2	569	c.539G>A	c.(538-540)cGc>cAc	p.R180H	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGGCCAGCCGCCAGGACAAC	0.682																																						uc003frg.3																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(538-540)cGc>cAc		Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.							25	25	25					3																	186917605		2200	4293	6493	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917605G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.539G>A	3.37:g.186917605G>A	ENSP00000311712:p.Arg180His						p.R180H	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	569	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		180						Missense_Mutation	SNP	ENST00000312295.4	37	c.539G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735062	0.69189	.	.	ENSG00000175077	ENST00000312295	T	0.23348	1.91	5.7	5.7	0.88788	.	0.381494	0.30649	N	0.009169	T	0.43055	0.1230	L	0.44542	1.39	0.30493	N	0.771205	D	0.89917	1.0	D	0.85130	0.997	T	0.30534	-0.9975	10	0.37606	T	0.19	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	180	P59025	RTP1_HUMAN	H	180	ENSP00000311712:R180H	ENSP00000311712:R180H	R	+	2	0	RTP1	188400299	0.594000	0.26849	1.000000	0.80357	0.960000	0.62799	0.731000	0.26058	2.711000	0.92665	0.561000	0.74099	CGC		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		A	186917605	G	A	186917605	3	1	274	1	0	0	0	0	1	0	0	0	13733	1087	38	1	545	1	RTP1	3	186917605	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	64284878	186917605	11104825	19	19562											
CCDC149	91050	broad.mit.edu	37	chr4	24878210	24878210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggcgctcccggagctgaTtggccatgagtttgtactgg	5	11	16	9	2	0	2	0	2	0	0	1	3	1	3	2	5	2	4	2	5	1	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:24878210T>C	ENST00000389609.4	-	3	316	c.173A>G	c.(172-174)aAt>aGt	p.N58S	CCDC149_ENST00000428116.2_Missense_Mutation_p.N3S|CCDC149_ENST00000504487.1_Missense_Mutation_p.N58S|CCDC149_ENST00000502801.1_Missense_Mutation_p.N58S	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	3										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCGGAGCTGATTGGCCATGAG	0.517																																						uc003grc.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(172-174)aAt>aGt		Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.							145	128	134					4																	24878210		2203	4300	6503	SO:0001583	missense	91050							g.chr4:24878210T>C		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.173A>G	4.37:g.24878210T>C	ENSP00000374260:p.Asn58Ser					CCDC149_uc003grd.3_Missense_Mutation_p.N58S|CCDC149_uc011bxr.2_Missense_Mutation_p.N58S|CCDC149_uc003gre.3_Missense_Mutation_p.N3S	p.N58S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN			1	272	-		Breast(46;0.173)	58					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	c.173A>G	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518170	0.85495	.	.	ENSG00000181982	ENST00000504487;ENST00000428116;ENST00000389609;ENST00000502801;ENST00000503881	T	0.21361	2.01	5.41	5.41	0.78517	.	0.000000	0.85682	U	0.000000	T	0.41880	0.1178	L	0.57536	1.79	0.50171	D	0.999858	D;D;D	0.76494	0.992;0.999;0.99	P;D;P	0.79108	0.903;0.992;0.871	T	0.13282	-1.0515	10	0.36615	T	0.2	-12.3403	14.6338	0.68676	0.0:0.0:0.0:1.0	.	3;58;58	Q6ZUS6;D6RIA9;G5EA04	CC149_HUMAN;.;.	S	58;3;58;58;3	ENSP00000427529:N58S	ENSP00000374260:N58S	N	-	2	0	CCDC149	24487308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.980000	0.88113	2.041000	0.60428	0.533000	0.62120	AAT		0.517	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		C	24878210	T	C	24878210	3	2	274	1	0	0	0	0	1	0	0	0	2783	1493	52	4	1464	4	CCDC149	4	24878210	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		24878210	166276066	20	19563											
EPHA5	2044	broad.mit.edu	37	chr4	66217156	66217156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagtacccgggaaagtCcaaagtcagacactttgcac	12	8	8	13	1	1	1	1	0	0	1	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:66217156C>A	ENST00000273854.3	-	14	3059	c.2459G>T	c.(2458-2460)gGa>gTa	p.G820V	EPHA5_ENST00000511294.1_Missense_Mutation_p.G821V|EPHA5_ENST00000354839.4_Missense_Mutation_p.G798V|EPHA5_ENST00000432638.2_Missense_Mutation_p.G657V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			G -> E (in Ref. 3; CAD97914). {ECO:0000305}.	axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGGGAAAGTCCAAAGTCAGA	0.443										TSP Lung(17;0.13)																												uc003hcy.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2458-2460)gGa>gTa		Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.							133	117	122					4																	66217156		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217156C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2459G>T	4.37:g.66217156C>A	ENSP00000273854:p.Gly820Val	TSP Lung(17;0.13)				EPHA5_uc003hcx.3_Missense_Mutation_p.G752V|EPHA5_uc003hcz.3_Missense_Mutation_p.G798V|EPHA5_uc011cah.2_Missense_Mutation_p.G821V|EPHA5_uc011cai.2_Missense_Mutation_p.G799V|EPHA5_uc003hda.2_Missense_Mutation_p.G821V	p.G820V	NM_004439	NP_004430	P54756	EPHA5_HUMAN			13	2652	-			820	G -> E (in Ref. 3; CAD97914).		Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2459G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081524	0.94050	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000019	D	0.98403	0.9469	H	0.99838	4.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	D	0.99056	1.0829	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	799;821;798;820	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	820;657;798;821	ENSP00000273854:G820V;ENSP00000389208:G657V;ENSP00000346899:G798V;ENSP00000427638:G821V	ENSP00000273854:G820V	G	-	2	0	EPHA5	65899751	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.843000	0.97960	0.585000	0.79938	GGA		0.443	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		A	66217156	C	A	66217156	3	1	274	1	0	0	0	0	1	0	0	0	5170	855	30	5	674	5	EPHA5	4	66217156	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	41338946	66217156	124937120	21	19564											
GK2	2712	broad.mit.edu	37	chr4	80328891	80328891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacattgtcaagcatccaaCgaagttttactgcactgaag	13	11	7	10	1	2	1	2	1	0	0	3	2	3	1	1	0	4	3	1	0	5	3	rs147498656		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:80328891C>A	ENST00000358842.3	-	1	481	c.464G>T	c.(463-465)cGt>cTt	p.R155L		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATCCAACGAAGTTTTAC	0.408																																						uc003hlu.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(463-465)cGt>cTt		Homo sapiens glycerol kinase 2 (GK2), mRNA.							136	131	133					4																	80328891		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328891C>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.464G>T	4.37:g.80328891C>A	ENSP00000351706:p.Arg155Leu						p.R155L	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			0	482	-			155					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.464G>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516987	0.64634	.	.	ENSG00000196475	ENST00000358842	T	0.55588	0.51	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, conserved site (1);Carbohydrate kinase, FGGY, N-terminal (1);	0.055575	0.64402	D	0.000001	T	0.66406	0.2786	L	0.57130	1.785	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	T	0.69676	-0.5081	10	0.66056	D	0.02	-14.6367	13.8928	0.63750	0.0:1.0:0.0:0.0	.	155	Q14410	GLPK2_HUMAN	L	155	ENSP00000351706:R155L	ENSP00000351706:R155L	R	-	2	0	GK2	80547915	1.000000	0.71417	0.972000	0.41901	0.781000	0.44180	5.502000	0.66956	2.418000	0.82041	0.585000	0.79938	CGT		0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		A	80328891	C	A	80328891	3	1	274	1	0	0	0	0	1	0	0	0	6421	536	19	5	1201	5	GK2	4	80328891	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	14111735	80328891	110825385	22	19565											
SPARCL1	8404	broad.mit.edu	37	chr4	88414795	88414795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgtactttttctcttTgctcctcaattttgaggtga	6	21	6	8	0	3	2	2	2	1	0	5	2	4	2	1	1	2	2	1	1	2	7	rs201382853	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:88414795T>C	ENST00000282470.6	-	4	1627	c.1157A>G	c.(1156-1158)cAa>cGa	p.Q386R	SPARCL1_ENST00000503414.1_Missense_Mutation_p.Q261R|SPARCL1_ENST00000418378.1_Missense_Mutation_p.Q386R	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	386					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTTCTCTTTGCTCCTCAAT	0.443													T|||	6	0.00119808	0	0	5008	,	,		21554	0.006		0	False		,,,				2504	0					uc010ikm.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1156-1158)cAa>cGa		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							73	77	76					4																	88414795		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414795T>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1157A>G	4.37:g.88414795T>C	ENSP00000282470:p.Gln386Arg					SPARCL1_uc011cdc.2_Missense_Mutation_p.Q261R|SPARCL1_uc003hqs.4_Missense_Mutation_p.Q386R|SPARCL1_uc011cdd.2_Missense_Mutation_p.Q261R	p.Q386R	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	4	1729	-			386					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1157A>G	CCDS3622.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	T	11.54	1.669726	0.29693	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90563	-2.69;-2.69;-2.69	4.32	3.15	0.36227	.	1.431250	0.04398	N	0.363640	T	0.79997	0.4543	N	0.24115	0.695	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.33042	0.157;0.058	T	0.71331	-0.4625	10	0.23302	T	0.38	0.6276	7.9482	0.29999	0.0:0.0:0.2506:0.7494	.	386;386	Q8N4S1;Q14515	.;SPRL1_HUMAN	R	386;386;261;261	ENSP00000282470:Q386R;ENSP00000414856:Q386R;ENSP00000422903:Q261R	ENSP00000282470:Q386R	Q	-	2	0	SPARCL1	88633819	0.040000	0.19996	0.009000	0.14445	0.091000	0.18340	0.513000	0.22770	0.968000	0.38212	0.533000	0.62120	CAA		0.443	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			C	88414795	T	C	88414795	3	2	274	1	0	0	0	0	1	0	0	0	14995	1812	63	4	869	4	SPARCL1	4	88414795	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	8085904	88414795	102739481	23	19566											
FAM198B	51313	broad.mit.edu	37	chr4	159052126	159052126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcttccttgcgaggTctgaatccacagcaatttgt	9	12	9	11	1	2	1	0	1	2	0	4	2	4	1	2	2	2	2	2	2	2	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:159052126T>C	ENST00000296530.8	-	4	1785	c.1164A>G	c.(1162-1164)agA>agG	p.R388R	FAM198B_ENST00000393807.5_Silent_p.R396R|FAM198B_ENST00000585682.1_Silent_p.R388R|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	388						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCTTGCGAGGTCTGAATCCAC	0.413																																						uc003ipq.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(1186-1188)agA>agG		Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.							103	94	97					4																	159052126		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159052126T>C		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1164A>G	4.37:g.159052126T>C						FAM198B_uc003ipp.4_Silent_p.R388R|FAM198B_uc003ipr.4_Silent_p.R388R	p.R396R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN			4	1595	-			388					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.1188A>G	CCDS3798.1																																																																																				0.413	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		C	159052126	T	C	159052126	2	2	274	1	0	0	0	0	0	0	0	1	5529	1664	58	4		4	FAM198B	4	159052126	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	70637331	159052126	32102150	24	19567											
AHRR	57491	broad.mit.edu	37	chr5	428029	428029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctgcattgcggcaccCgttctcctcccctccgcagc	3	11	8	19	3	2	0	0	0	2	0	5	0	4	0	5	1	3	5	5	1	0	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:428029C>T	ENST00000505113.1	+	8	872	c.828C>T	c.(826-828)ccC>ccT	p.P276P	AHRR_ENST00000506456.1_Silent_p.P132P|AHRR_ENST00000512529.1_Silent_p.P122P|AHRR_ENST00000316418.5_Silent_p.P294P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	276					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCGGCACCCGTTCTCCTCC	0.577																																						uc003jav.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(880-882)ccC>ccT		Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.							26	31	30					5																	428029		1972	4132	6104	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428029C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.828C>T	5.37:g.428029C>T						AHRR_uc003jaw.3_Silent_p.P276P|AHRR_uc010isy.3_Silent_p.P122P|AHRR_uc010isz.3_Silent_p.P272P|AHRR_uc003jax.3_Silent_p.P35P|AHRR_uc003jay.3_Silent_p.P132P	p.P294P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		8	925	+			276					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.882C>T	CCDS56355.1																																																																																				0.577	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		T	428029	C	T	428029	2	4	274	1	0	0	0	0	0	0	0	1	417	639	23	2		2	AHRR	5	428029	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08		428029	180487231	25	19568											
SLC6A19	340024	broad.mit.edu	37	chr5	1216774	1216774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcattgggttccgcgccaCacagcgctacgacgactgct	7	8	11	15	6	1	0	1	0	0	0	2	2	2	0	2	1	3	3	2	1	1	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:1216774C>T	ENST00000304460.10	+	7	1045	c.989C>T	c.(988-990)aCa>aTa	p.T330I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	330					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCGCGCCACACAGCGCTAC	0.607																																						uc003jbw.4																			0		p.A329T(2)|p.T330T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(988-990)aCa>aTa		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							222	160	181					5																	1216774		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216774C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.989C>T	5.37:g.1216774C>T	ENSP00000305302:p.Thr330Ile						p.T330I	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	1045	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		330					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.989C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687440	0.48097	.	.	ENSG00000174358	ENST00000304460	T	0.74947	-0.89	4.61	4.61	0.57282	.	0.047280	0.85682	D	0.000000	T	0.81828	0.4905	M	0.83312	2.635	0.53005	D	0.999966	P	0.41159	0.74	P	0.46339	0.513	D	0.85847	0.1401	10	0.87932	D	0	.	17.4396	0.87562	0.0:1.0:0.0:0.0	.	330	Q695T7	S6A19_HUMAN	I	330	ENSP00000305302:T330I	ENSP00000305302:T330I	T	+	2	0	SLC6A19	1269774	1.000000	0.71417	0.836000	0.33094	0.015000	0.08874	5.827000	0.69300	2.112000	0.64535	0.491000	0.48974	ACA		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1216774	C	T	1216774	3	4	274	1	0	0	0	0	1	0	0	0	14682	478	17	3	1015	3	SLC6A19	5	1216774	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	788745	1216774	179698486	26	19569											
GZMK	3003	broad.mit.edu	37	chr5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaaaggtgtcttccacGctatagtctctggaggtcat	8	14	10	9	1	4	0	1	0	3	0	6	1	5	1	1	3	0	2	1	3	4	4	rs200562138		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:54329635G>A	ENST00000231009.2	+	5	746	c.676G>A	c.(676-678)Gct>Act	p.A226T	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A226S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453																																						uc003jpl.1																			1	Substitution - Missense(1)	p.A226S(2)	lung(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(676-678)Gct>Act		Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	102	93	96		676	5.3	0.7	5		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMK	NM_002104.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	226/265	54329635	2,13004	2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329635G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.676G>A	5.37:g.54329635G>A	ENSP00000231009:p.Ala226Thr						p.A226T	NM_002104	NP_002095	P49863	GRAK_HUMAN			4	720	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	226			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.676G>A	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733630	0.96865	2.27E-4	1.16E-4	ENSG00000113088	ENST00000231009	D	0.88975	-2.45	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065450	0.64402	D	0.000018	D	0.90494	0.7022	L	0.49778	1.585	0.42889	D	0.994198	D	0.61080	0.989	P	0.53518	0.728	D	0.91543	0.5251	10	0.87932	D	0	.	16.4636	0.84071	0.0:0.0:1.0:0.0	.	226	P49863	GRAK_HUMAN	T	226	ENSP00000231009:A226T	ENSP00000231009:A226T	A	+	1	0	GZMK	54365392	0.998000	0.40836	0.687000	0.30102	0.559000	0.35586	7.069000	0.76755	2.738000	0.93877	0.655000	0.94253	GCT		0.453	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		A	54329635	G	A	54329635	3	1	274	1	0	0	0	0	1	0	0	0	6918	1087	38	1	694	1	GZMK	5	54329635	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	53112861	54329635	126585625	27	19570											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(11)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						52	58	56					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1706	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67589138	G	A	67589138	3	1	274	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	13259503	67589138	113326122	28	19571											
SLCO4C1	353189	broad.mit.edu	37	chr5	101599411	101599411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccatagcaacatcaatGtatatggttagcagttgtcc	11	13	7	10	0	2	0	1	0	1	0	4	0	3	0	2	1	3	5	2	1	6	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:101599411G>A	ENST00000310954.6	-	4	1162	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAACATCAATGTATATGGTTA	0.358																																						uc003knm.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(874-876)taC>taT		Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.							168	164	166					5																	101599411		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599411G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.876C>T	5.37:g.101599411G>A							p.Y292Y	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	3	1163	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	292						Silent	SNP	ENST00000310954.6	37	c.876C>T	CCDS34205.1																																																																																				0.358	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		A	101599411	G	A	101599411	2	1	274	1	0	0	0	0	0	0	0	1	14730	1372	48	3		3	SLCO4C1	5	101599411	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	34010273	101599411	79315849	29	19572											
PCDHB5	26167	broad.mit.edu	37	chr5	140516927	140516927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	8	5	17	11	4	1	0	1	0	0	0	1	2	1	0	1	5	3	3	1	5	2	0	rs138297526		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140516927C>G	ENST00000231134.5	+	1	2128	c.1911C>G	c.(1909-1911)caC>caG	p.H637Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1909-1911)caC>caG		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							25	29	28					5																	140516927		2097	4091	6188	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516927C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1911C>G	5.37:g.140516927C>G	ENSP00000231134:p.His637Gln						p.H637Q	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2128	+			637			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1911C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.487677	0.01018	.	.	ENSG00000113209	ENST00000231134	T	0.52526	0.66	4.71	-1.85	0.07784	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24084	0.0583	N	0.04686	-0.185	0.25943	N	0.982844	B	0.21225	0.053	B	0.26517	0.07	T	0.26950	-1.0088	9	0.02654	T	1	.	15.7741	0.78198	0.0:0.264:0.6662:0.0698	.	637	Q9Y5E4	PCDB5_HUMAN	Q	637	ENSP00000231134:H637Q	ENSP00000231134:H637Q	H	+	3	2	PCDHB5	140497111	0.000000	0.05858	0.957000	0.39632	0.760000	0.43138	-3.019000	0.00643	-0.105000	0.12132	-0.467000	0.05162	CAC		0.697	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		G	140516927	C	G	140516927	3	3	274	1	0	0	0	0	1	0	0	0	11545	477	17	5	1913	5	PCDHB5	5	140516927	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	38917516	140516927	40398333	30	19573											
PCDHB7	56129	broad.mit.edu	37	chr5	140554075	140554075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCgccaacgacaactcgccctt	6	8	13	14	5	0	0	0	0	0	0	1	2	0	1	2	2	5	2	2	2	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140554075C>T	ENST00000231137.3	+	1	1833	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.721																																						uc003lit.3																			0		p.D553Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1657-1659)gaC>gaT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							28	33	31					5																	140554075		2196	4292	6488	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554075C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1659C>T	5.37:g.140554075C>T							p.D553D	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1833	+			553			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1659C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	7.482	0.648880	0.14516	.	.	ENSG00000113212	ENST00000543636	.	.	.	4.3	0.887	0.19200	.	.	.	.	.	T	0.62245	0.2412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62421	-0.6858	5	0.87932	D	0	.	7.3491	0.26680	0.0:0.4908:0.0:0.5092	.	.	.	.	M	336	.	ENSP00000440828:T336M	T	+	2	0	PCDHB7	140534259	0.000000	0.05858	0.854000	0.33618	0.931000	0.56810	-0.339000	0.07832	0.384000	0.24942	0.449000	0.29647	ACG		0.721	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140554075	C	T	140554075	2	4	274	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140554075	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	37148	140554075	40361185	31	19574											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720777	140720777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgggcgtggacggggttCgggctttcctgcagacctat	4	12	16	9	3	0	1	0	0	0	1	2	2	1	2	2	5	1	3	2	5	1	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140720777C>T	ENST00000394576.2	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	747					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGGGTTCGGGCTTTCCT	0.627																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2239-2241)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							71	75	74					5																	140720777		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720777C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2239C>T	5.37:g.140720777C>T	ENSP00000378077:p.Arg747Trp					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R747W|PCDHGC5_uc011dap.2_5'Flank	p.R747W	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2424	+			757					Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2239C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.554	1.116803	0.20795	.	.	ENSG00000081853	ENST00000394576	T	0.48836	0.8	5.39	3.51	0.40186	.	0.196550	0.24443	U	0.038492	T	0.52837	0.1759	M	0.81179	2.53	0.09310	N	1	B;D	0.58970	0.419;0.984	B;P	0.45971	0.279;0.499	T	0.53899	-0.8373	10	0.66056	D	0.02	.	10.5241	0.44936	0.1501:0.7056:0.1443:0.0	.	747;747	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	W	747	ENSP00000378077:R747W	ENSP00000378077:R747W	R	+	1	2	PCDHGA2	140700961	0.001000	0.12720	0.014000	0.15608	0.001000	0.01503	0.959000	0.29240	1.256000	0.44068	-0.479000	0.04858	CGG		0.627	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140720777	C	T	140720777	3	4	274	1	0	0	0	0	1	0	0	0	11554	875	31	2	2241	2	PCDHGA2	5	140720777	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	166702	140720777	40194483	32	19575											
DNAH8	1769	broad.mit.edu	37	chr6	38850799	38850799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatattagaacaaattttTtgatagacaccattgcaaaa	19	12	4	6	0	0	3	0	1	0	2	0	3	0	3	1	0	2	1	1	0	8	7			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:38850799T>G	ENST00000359357.3	+	52	7575	c.7321T>G	c.(7321-7323)Ttg>Gtg	p.L2441V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L2405V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L2658V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2441	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAAATTTTTTGATAGACAC	0.323																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7972-7974)Ttg>Gtg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							85	97	93					6																	38850799		2203	4293	6496	SO:0001583	missense	1769							g.chr6:38850799T>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7321T>G	6.37:g.38850799T>G	ENSP00000352312:p.Leu2441Val					DNAH8_uc003ooe.2_Missense_Mutation_p.L2441V	p.L2658V	NM_001206927	NP_001193856					53	8081	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7972T>G		.	.	.	.	.	.	.	.	.	.	T	18.65	3.670395	0.67814	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.15487	3.41;2.42;2.42;2.42	5.87	1.93	0.25924	.	0.000000	0.64402	D	0.000001	T	0.27454	0.0674	M	0.81802	2.56	0.51767	D	0.99993	D	0.89917	1.0	D	0.97110	1.0	T	0.04203	-1.0969	10	0.52906	T	0.07	.	9.2217	0.37382	0.0:0.2211:0.0:0.7789	.	2441	Q96JB1	DYH8_HUMAN	V	2646;2646;2441;2405	ENSP00000415331:L2646V;ENSP00000333363:L2646V;ENSP00000352312:L2441V;ENSP00000402294:L2405V	ENSP00000333363:L2646V	L	+	1	2	DNAH8	38958777	0.988000	0.35896	0.992000	0.48379	0.969000	0.65631	0.460000	0.21924	0.395000	0.25257	0.528000	0.53228	TTG		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38850799	T	G	38850799	3	3	274	1	0	0	0	0	1	0	0	0	4607	1838	64	5	7519	5	DNAH8	6	38850799	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		38850799	132264268	33	19576											
SLC35B2	347734	broad.mit.edu	37	chr6	44222858	44222858	+	Frame_Shift_Del	DEL	T	T	-																															tctgcaccgatgacatcttaTaggcaaacagggcatcctgc																								rs200469836		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:44222858delT	ENST00000393812.3	-	4	1027	c.884delA	c.(883-885)tatfs	p.Y295fs	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.Y202fs|SLC35B2_ENST00000537814.1_Frame_Shift_Del_p.Y162fs	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	295					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGACATCTTATAGGCAAACAG	0.532																																						uc003oxd.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(883-885)tatfs		Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.							76	71	73					6																	44222858		2203	4300	6503	SO:0001589	frameshift_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222858delT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.884delA	6.37:g.44222858delT	ENSP00000377401:p.Tyr295fs					SLC35B2_uc011dvt.2_Frame_Shift_Del_p.Y198fs|SLC35B2_uc011dvu.2_Frame_Shift_Del_p.Y162fs|SLC35B2_uc021yzy.1_5'Flank	p.Y295fs	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	1020	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		295					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Frame_Shift_Del	DEL	ENST00000393812.3	37	c.884delA	CCDS34462.1																																																																																				0.532	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			-	44222858	T	-	44222858	7	5	274	1	0	1	0	1	0	0	0	0	14576	1406	49	0	418	0	SLC35B2	6	44222858	Frame_Shift_Del	DEL	T	TCGA-76-6656-01A-11D-1845-08	5372059	44222858	126892209	34	19577											
GSTA5	221357	broad.mit.edu	37	chr6	52699018	52699018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctttcctctggttgaCatatgagcagaagaaggatc	11	12	9	9	0	2	4	0	2	2	2	5	5	3	5	1	2	1	2	1	2	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:52699018C>T	ENST00000370989.2	-	4	364	c.335G>A	c.(334-336)tGt>tAt	p.C112Y	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.C112Y			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	112	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCTGGTTGACATATGAGCAG	0.373																																						uc003pba.1																			0		p.C112R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(334-336)tGt>tAt		Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	Glutathione(DB00143)						215	206	209					6																	52699018		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699018C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.335G>A	6.37:g.52699018C>T	ENSP00000360028:p.Cys112Tyr						p.C112Y	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	405	-	Lung NSC(77;0.0912)		112			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.335G>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	3.008	-0.204554	0.06180	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01981	4.52;4.52	2.58	1.66	0.24008	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.777490	0.02492	N	0.089545	T	0.01421	0.0046	M	0.74881	2.28	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.45527	-0.9255	10	0.54805	T	0.06	.	4.9561	0.14041	0.0:0.4358:0.4307:0.1334	.	112	Q7RTV2	GSTA5_HUMAN	Y	112	ENSP00000360028:C112Y;ENSP00000284562:C112Y	ENSP00000284562:C112Y	C	-	2	0	GSTA5	52806977	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.423000	0.00236	0.386000	0.24997	0.184000	0.17185	TGT		0.373	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		T	52699018	C	T	52699018	3	4	274	1	0	0	0	0	1	0	0	0	6834	478	17	3	345	3	GSTA5	6	52699018	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	8476160	52699018	118416049	35	19578											
MYO6	4646	broad.mit.edu	37	chr6	76545638	76545638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atacctgactgaatcctatgGaacaggtcaagatattgatg	14	11	9	7	0	1	4	1	3	0	1	2	5	2	5	2	2	2	0	2	2	6	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:76545638G>C	ENST00000369977.3	+	7	657	c.518G>C	c.(517-519)gGa>gCa	p.G173A	MYO6_ENST00000369975.1_Missense_Mutation_p.G173A|MYO6_ENST00000369985.4_Missense_Mutation_p.G173A|MYO6_ENST00000369981.3_Missense_Mutation_p.G173A	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	173	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCTATGGAACAGGTCAA	0.279																																						uc003pih.1																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(517-519)gGa>gCa		Homo sapiens myosin VI (MYO6), mRNA.							118	117	117					6																	76545638		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76545638G>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.518G>C	6.37:g.76545638G>C	ENSP00000358994:p.Gly173Ala					MYO6_uc003pig.1_Missense_Mutation_p.G173A|MYO6_uc003pii.1_Missense_Mutation_p.G173A	p.G173A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	6	797	+		all_hematologic(105;0.189)	173			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.518G>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217907	0.79352	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.29	4.29	0.51040	.	0.108387	0.64402	D	0.000006	D	0.89107	0.6621	L	0.49513	1.565	0.80722	D	1	D;D	0.71674	0.958;0.998	P;D	0.69654	0.714;0.965	D	0.88563	0.3124	10	0.40728	T	0.16	.	17.1001	0.86647	0.0:0.0:1.0:0.0	.	173;173	Q9UM54-2;Q9UM54-1	.;.	A	173	ENSP00000358998:G173A;ENSP00000359002:G173A;ENSP00000358994:G173A;ENSP00000358992:G173A	ENSP00000358992:G173A	G	+	2	0	MYO6	76602358	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.269000	0.95684	2.091000	0.63221	0.460000	0.39030	GGA		0.279	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		C	76545638	G	C	76545638	3	2	274	1	0	0	0	0	1	0	0	0	10081	1174	41	5	540	5	MYO6	6	76545638	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	23846620	76545638	94569429	36	19579											
SIM1	6492	broad.mit.edu	37	chr6	100896034	100896034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttacgcaaatggtgcgCgcagcgcaggtggaaggtgt	8	7	16	10	5	0	0	0	0	0	0	0	1	0	1	1	4	3	3	1	4	3	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:100896034C>T	ENST00000369208.3	-	8	1620	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	SIM1_ENST00000262901.4_Missense_Mutation_p.A280T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	280	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGGTGCGCGCAGCGCAGG	0.622																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(838-840)Gcg>Acg		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							103	76	85					6																	100896034		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896034C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.838G>A	6.37:g.100896034C>T	ENSP00000358210:p.Ala280Thr					SIM1_uc021zdg.1_Missense_Mutation_p.A280T|SIM1_uc010kcu.3_Missense_Mutation_p.A280T	p.A280T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	1305	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	280			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.838G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155981	0.78114	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.22134	1.97;1.97	5.29	5.29	0.74685	PAS fold-3 (1);PAS (1);	0.099558	0.64402	D	0.000002	T	0.25680	0.0625	L	0.35593	1.075	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.01356	-1.1376	10	0.34782	T	0.22	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	280	P81133	SIM1_HUMAN	T	280	ENSP00000358210:A280T;ENSP00000262901:A280T	ENSP00000262901:A280T	A	-	1	0	SIM1	101002755	1.000000	0.71417	0.989000	0.46669	0.202000	0.24057	7.487000	0.81328	2.473000	0.83533	0.655000	0.94253	GCG		0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100896034	C	T	100896034	3	4	274	1	0	0	0	0	1	0	0	0	14323	768	27	1	1482	1	SIM1	6	100896034	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	24350396	100896034	70219033	37	19580											
ASCC3	10973	broad.mit.edu	37	chr6	101073206	101073206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggctggagaatggcttctAattgctgttgaaaagttgtg	9	15	13	4	0	1	2	0	1	1	1	1	3	1	2	0	3	1	5	0	3	4	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:101073206A>G	ENST00000369162.2	-	30	4991	c.4647T>C	c.(4645-4647)atT>atC	p.I1549I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1549	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATGGCTTCTAATTGCTGTTG	0.368																																						uc003pqk.3																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4645-4647)atT>atC		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							66	67	67					6																	101073206		2203	4299	6502	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101073206A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4647T>C	6.37:g.101073206A>G							p.I1549I	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	29	4976	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1549			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.4647T>C	CCDS5046.1																																																																																				0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		G	101073206	A	G	101073206	2	3	274	1	0	0	0	0	0	0	0	1	1033	358	13	4		4	ASCC3	6	101073206	Silent	SNP	A	TCGA-76-6656-01A-11D-1845-08	177172	101073206	70041861	38	19581											
SYNE1	23345	broad.mit.edu	37	chr6	152554981	152554981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccactggctatcaatgcGcgacagctcagagcgcagcg	10	6	12	13	4	2	1	2	0	0	1	3	2	3	1	1	1	4	3	1	1	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:152554981G>A	ENST00000367255.5	-	112	21248	c.20647C>T	c.(20647-20649)Cgc>Tgc	p.R6883C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R6812C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6883C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6812C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1407C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6495C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6883					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATCAATGCGCGACAGCTCA	0.512										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20647-20649)Cgc>Tgc		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							87	76	80					6																	152554981		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152554981G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20647C>T	6.37:g.152554981G>A	ENSP00000356224:p.Arg6883Cys	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R1407C|SYNE1_uc003qot.4_Missense_Mutation_p.R6812C|SYNE1_uc003qou.4_Missense_Mutation_p.R6883C	p.R6883C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20870	-		Ovarian(120;0.0955)	6883					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20647C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909232	0.33721	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.73	5.93	5.06	0.68205	.	0.515331	0.19330	N	0.116909	T	0.12987	0.0315	N	0.12182	0.205	0.22911	N	0.998571	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.06405	0.0;0.0;0.002	T	0.11108	-1.0601	10	0.36615	T	0.2	.	10.2901	0.43590	0.068:0.0:0.7978:0.1341	.	6883;6883;6812	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	C	6883;6812;6883;6812;6495;1407	ENSP00000356224:R6883C;ENSP00000396024:R6812C;ENSP00000265368:R6883C;ENSP00000390975:R6812C;ENSP00000341887:R6495C;ENSP00000349276:R1407C	ENSP00000265368:R6883C	R	-	1	0	SYNE1	152596674	0.959000	0.32827	0.025000	0.17156	0.641000	0.38312	4.478000	0.60230	1.500000	0.48636	0.655000	0.94253	CGC		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152554981	G	A	152554981	3	1	274	1	0	0	0	0	1	0	0	0	15442	1087	38	1	5959	1	SYNE1	6	152554981	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	51481775	152554981	18560086	39	19582											
PDE10A	10846	broad.mit.edu	37	chr6	165808689	165808689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggatgtcccacaggaccGatgaaccatgtagacaaaaa	16	5	9	11	1	0	2	0	1	0	1	1	5	1	4	4	2	1	1	4	2	4	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:165808689G>A	ENST00000366882.1	-	16	1610	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	PDE10A_ENST00000539869.2_Missense_Mutation_p.R496W|PDE10A_ENST00000354448.4_Missense_Mutation_p.R486W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	486					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCACAGGACCGATGAACCATG	0.383																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.3																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1456-1458)Cgg>Tgg		RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	Dipyridamole(DB00975)						77	76	76					6																	165808689		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165808689G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1456C>T	6.37:g.165808689G>A	ENSP00000355847:p.Arg486Trp					PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R416W|PDE10A_uc003quo.3_Missense_Mutation_p.R496W	p.R486W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1701	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	486					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1456C>T		.	.	.	.	.	.	.	.	.	.	G	17.04	3.286242	0.59867	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76839	-1.05;-1.05	5.57	4.67	0.58626	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.289201	0.38436	N	0.001688	T	0.58424	0.2121	N	0.22421	0.69	0.41104	D	0.985697	P;D	0.53619	0.929;0.961	B;B	0.41412	0.116;0.356	T	0.69187	-0.5211	10	0.72032	D	0.01	.	16.4835	0.84171	0.0:0.1306:0.8694:0.0	.	496;486	Q9ULW9;Q9Y233	.;PDE10_HUMAN	W	486;514;496;486;485	ENSP00000355847:R486W;ENSP00000346435:R486W	ENSP00000341187:R496W	R	-	1	2	PDE10A	165728679	1.000000	0.71417	0.952000	0.39060	0.994000	0.84299	5.512000	0.67030	2.619000	0.88677	0.650000	0.86243	CGG		0.383	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			A	165808689	G	A	165808689	3	1	274	1	0	0	0	0	1	0	0	0	11630	1057	37	2	915	2	PDE10A	6	165808689	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	13253708	165808689	5306378	40	19583											
SDK1	221935	broad.mit.edu	37	chr7	4050739	4050739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagtacagcgccgagaCaagcaggtgcgtgaatcccg	10	4	15	12	4	0	2	0	1	0	1	1	3	1	2	3	2	4	2	3	2	3	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4050739C>A	ENST00000404826.2	+	15	2412	c.2273C>A	c.(2272-2274)aCa>aAa	p.T758K	SDK1_ENST00000389531.3_Missense_Mutation_p.T758K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	758	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T758K(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGCCGAGACAAGCAGGTGC	0.597																																						uc003smx.3																			1	Substitution - Missense(1)	p.T758K(2)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2272-2274)aCa>aAa		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							31	28	29					7																	4050739		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4050739C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2273C>A	7.37:g.4050739C>A	ENSP00000385899:p.Thr758Lys					SDK1_uc010kso.3_Missense_Mutation_p.T34K	p.T758K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2412	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	758			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2273C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456304	0.84317	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54866	0.55;0.55	5.48	5.48	0.80851	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.74283	0.3696	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76865	-0.2801	10	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	758;758	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	K	758	ENSP00000385899:T758K;ENSP00000374182:T758K	ENSP00000374182:T758K	T	+	2	0	SDK1	4017265	1.000000	0.71417	0.933000	0.37362	0.749000	0.42624	7.389000	0.79806	2.575000	0.86900	0.655000	0.94253	ACA		0.597	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4050739	C	A	4050739	3	1	274	1	0	0	0	0	1	0	0	0	13968	478	17	5	2331	5	SDK1	7	4050739	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		4050739	155087924	41	19584											
SDK1	221935	broad.mit.edu	37	chr7	4189057	4189057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcagacctactcctcGtccatcagccatgaggcgac	9	7	11	14	2	1	2	1	1	0	1	4	4	3	2	4	2	2	1	4	2	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4189057G>A	ENST00000404826.2	+	30	4726	c.4587G>A	c.(4585-4587)tcG>tcA	p.S1529S	SDK1_ENST00000389531.3_Silent_p.S1529S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1529	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTACTCCTCGTCCATCAGCC	0.682																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4585-4587)tcG>tcA		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							40	33	35					7																	4189057		2202	4299	6501	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4189057G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4587G>A	7.37:g.4189057G>A						SDK1_uc010kso.3_Silent_p.S805S|SDK1_uc003smy.3_Silent_p.S16S	p.S1529S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4726	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1529			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4587G>A	CCDS34590.1																																																																																				0.682	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4189057	G	A	4189057	2	1	274	1	0	0	0	0	0	0	0	1	13968	1132	40	1		1	SDK1	7	4189057	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	138318	4189057	154949606	42	19585											
FAM188B	84182	broad.mit.edu	37	chr7	30830978	30830978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggcagaaaaccactgcCagcagccctccccatctgcc	12	4	8	17	0	1	1	0	0	1	1	2	2	2	1	6	1	5	2	6	1	3	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:30830978C>T	ENST00000265299.6	+	5	938	c.861C>T	c.(859-861)gcC>gcT	p.A287A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	287										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACTGCCAGCAGCCCTC	0.637																																						uc003tbt.3																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(859-861)gcC>gcT		Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.							54	64	61					7																	30830978		1953	4152	6105	SO:0001819	synonymous_variant	84182							g.chr7:30830978C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.861C>T	7.37:g.30830978C>T						FAM188B_uc010kwe.3_Silent_p.A258A	p.A287A	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			4	938	+			287					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.861C>T	CCDS43565.1																																																																																				0.637	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		T	30830978	C	T	30830978	2	4	274	1	0	0	0	0	0	0	0	1	5515	581	21	3		3	FAM188B	7	30830978	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	26641921	30830978	128307685	43	19586											
EGFR	1956	broad.mit.edu	37	chr7	55220329	55220329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccagtgtgctgcaggctGcacaggcccccgggagagcg	8	4	15	14	2	0	1	0	0	0	1	0	2	0	1	3	3	5	4	3	3	1	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:55220329G>A	ENST00000275493.2	+	6	896	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	EGFR_ENST00000442591.1_Missense_Mutation_p.C240Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C195Y|EGFR_ENST00000420316.2_Missense_Mutation_p.C240Y|EGFR_ENST00000342916.3_Missense_Mutation_p.C240Y|EGFR_ENST00000344576.2_Missense_Mutation_p.C240Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C187Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	240			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCTGCAGGCTGCACAGGCCCC	0.647		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(718-720)tGc>tAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						56	63	61					7																	55220329		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220329G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.719G>A	7.37:g.55220329G>A	ENSP00000275493:p.Cys240Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.C240Y|EGFR_uc003tqi.3_Missense_Mutation_p.C240Y|EGFR_uc003tqj.3_Missense_Mutation_p.C240Y|EGFR_uc022adm.1_Missense_Mutation_p.C240Y|EGFR_uc010kzg.2_Missense_Mutation_p.C195Y|EGFR_uc022adn.1_Missense_Mutation_p.C195Y|EGFR_uc011kco.2_Missense_Mutation_p.C187Y|EGFR_uc003tql.1_Non-coding_Transcript	p.C240Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	965	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		240					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.719G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434917	0.62955	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.15	5.15	0.70609	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.094530	0.64402	D	0.000001	D	0.97864	0.9298	H	0.96430	3.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;1.0	D	0.99308	1.0903	10	0.87932	D	0	.	17.1839	0.86861	0.0:0.0:1.0:0.0	.	195;240;240;240;240	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	195;240;110;240;240;240;240;187;34	ENSP00000415559:C195Y;ENSP00000342376:C240Y;ENSP00000345973:C240Y;ENSP00000413843:C240Y;ENSP00000275493:C240Y;ENSP00000410031:C240Y;ENSP00000395243:C187Y	ENSP00000275493:C240Y	C	+	2	0	EGFR	55187823	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	9.764000	0.98949	2.378000	0.81104	0.655000	0.94253	TGC		0.647	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55220329	G	A	55220329	3	1	274	1	0	0	0	0	1	0	0	0	4967	1319	46	3	741	3	EGFR	7	55220329	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	24389351	55220329	103918334	44	19587											
PHKG1	5260	broad.mit.edu	37	chr7	56151084	56151084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggtcccggtgcacgatgTtgagtttgtgcaaggtgcag	7	11	15	8	2	1	1	1	1	0	0	2	2	2	1	1	3	3	5	1	3	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:56151084T>C	ENST00000297373.2	-	6	628	c.434A>G	c.(433-435)aAc>aGc	p.N145S	PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000452681.2_Missense_Mutation_p.N177S|PHKG1_ENST00000537360.1_Missense_Mutation_p.N91S	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGCACGATGTTGAGTTTGTG	0.527																																					Melanoma(184;580 2064 5329 24177 35303)	uc011kdb.1																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(529-531)aAc>aGc		Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.							109	97	101					7																	56151084		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56151084T>C	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.434A>G	7.37:g.56151084T>C	ENSP00000297373:p.Asn145Ser					PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.N39S|PHKG1_uc003trz.1_Missense_Mutation_p.N145S|PHKG1_uc011kdc.1_Missense_Mutation_p.N136S|PHKG1_uc011kdd.1_Missense_Mutation_p.N91S	p.N177S	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	725	-	Breast(14;0.214)		145			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.530A>G	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844766	0.32606	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373;ENST00000446428;ENST00000432123	T;T;T;T;T	0.41065	3.23;1.01;1.01;1.8;1.8	5.47	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.154165	0.44902	D	0.000406	T	0.32763	0.0840	L	0.33293	1	0.46542	D	0.99909	B;B;B;B	0.30973	0.302;0.11;0.243;0.134	B;B;B;B	0.32022	0.102;0.139;0.087;0.059	T	0.24225	-1.0166	10	0.56958	D	0.05	-37.8311	11.3454	0.49556	0.0:0.0753:0.0:0.9247	.	91;136;177;145	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	S	177;91;145;67;67	ENSP00000445440:N177S;ENSP00000441528:N91S;ENSP00000297373:N145S;ENSP00000389721:N67S;ENSP00000397193:N67S	ENSP00000297373:N145S	N	-	2	0	PHKG1	56118578	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	5.074000	0.64401	2.220000	0.72140	0.528000	0.53228	AAC		0.527	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		C	56151084	T	C	56151084	3	2	274	1	0	0	0	0	1	0	0	0	11846	1725	60	4	749	4	PHKG1	7	56151084	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	930755	56151084	102987579	45	19588											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	10	8	9	14	1	0	2	0	1	0	1	2	2	1	2	5	2	2	4	5	2	2	2	rs139754746		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:71571179G>A	ENST00000329008.5	-	3	517	c.219C>T	c.(217-219)agC>agT	p.S73S	CALN1_ENST00000395275.2_Silent_p.S115S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		13808	0		0	False		,,,				2504	0					uc003twb.4																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(343-345)agC>agT		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	77	59	65		219,345	-6.3	0.1	7	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CALN1	NM_001017440.2,NM_031468.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	73/220,115/262	71571179	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571179G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.219C>T	7.37:g.71571179G>A						CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	p.S115S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			3	736	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	73					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.345C>T	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		A	71571179	G	A	71571179	2	1	274	1	0	0	0	0	0	0	0	1	2591	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	15420095	71571179	87567484	46	19589											
KCND2	3751	broad.mit.edu	37	chr7	119915031	119915031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgagtgcatctctgcttaCgatgaagaactggccttctt	9	12	9	11	2	2	2	0	1	2	1	3	4	2	2	1	1	4	2	1	1	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:119915031C>T	ENST00000331113.4	+	1	1310	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	115					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Y115Y(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCTCTGCTTACGATGAAGAAC	0.542																																						uc003vjj.1																			1	Substitution - coding silent(1)	p.Y115Y(2)	pancreas(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(343-345)taC>taT		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.							147	147	147					7																	119915031		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915031C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.345C>T	7.37:g.119915031C>T							p.Y115Y	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			0	1310	+	all_neural(327;0.117)		115					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.345C>T	CCDS5776.1																																																																																				0.542	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	119915031	C	T	119915031	2	4	274	1	0	0	0	0	0	0	0	1	8019	547	19	1		1	KCND2	7	119915031	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	48343852	119915031	39223632	47	19590											
CCDC136	64753	broad.mit.edu	37	chr7	128445464	128445464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaacactgagtatgacGtcagcagagtctcagacttc	12	9	8	12	1	2	4	2	2	1	2	5	4	3	4	1	0	2	2	1	0	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:128445464G>A	ENST00000297788.4	+	6	1201	c.834G>A	c.(832-834)acG>acA	p.T278T	CCDC136_ENST00000464832.1_Silent_p.T328T|CCDC136_ENST00000378685.4_Silent_p.T316T|CCDC136_ENST00000487361.1_Silent_p.T278T	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	278	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.T278T(2)|p.T394T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGTATGACGTCAGCAGAGT	0.502																																						uc003vnv.2																			3	Substitution - coding silent(3)	p.T278T(3)|p.T394T(1)	endometrium(3)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(832-834)acG>acA		Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.							74	76	76					7																	128445464		2019	4188	6207	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128445464G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.834G>A	7.37:g.128445464G>A						CCDC136_uc003vnu.2_Silent_p.T316T|CCDC136_uc003vnx.2_Silent_p.T94T|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	p.T278T	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			5	1250	+			278			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.834G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328883	0.01298	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.58	-4.98	0.03019	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33777	-0.9855	4	.	.	.	2.2168	8.505	0.33181	0.5409:0.1061:0.353:0.0	.	.	.	.	H	155	.	.	R	+	2	0	CCDC136	128232700	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.060000	0.03475	-1.149000	0.02843	-0.743000	0.03520	CGT		0.502	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		A	128445464	G	A	128445464	2	1	274	1	0	0	0	0	0	0	0	1	2770	1132	40	1		1	CCDC136	7	128445464	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	8530433	128445464	30693199	48	19591											
TRPV6	55503	broad.mit.edu	37	chr7	142570125	142570125	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccgcatatcactcacCgcaggaaccagcggtctccc	9	6	7	19	3	3	0	2	0	1	0	4	1	3	1	5	2	3	2	5	2	3	2	rs200085165	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:142570125C>T	ENST00000359396.3	-	14	2140	c.1895G>A	c.(1894-1896)cGg>cAg	p.R632Q		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	632					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TATCACTCACCGCAGGAACCA	0.662													C|||	2	0.000399361	0.0015	0	5008	,	,		17392	0		0	False		,,,				2504	0					uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.e14+1		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							60	55	57					7																	142570125		2203	4300	6503	SO:0001630	splice_region_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142570125C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1895+1G>A	7.37:g.142570125C>T						TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	p.R632_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			14	2124	-	Melanoma(164;0.059)		632					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1895_splice	CCDS5874.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	36	5.775853	0.96922	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.79940	-1.32	5.2	5.2	0.72013	.	0.054858	0.64402	D	0.000001	D	0.90290	0.6963	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90568	0.4520	9	.	.	.	-32.6818	17.9025	0.88909	0.0:1.0:0.0:0.0	.	632	Q9H1D0	TRPV6_HUMAN	Q	632;464	ENSP00000352358:R632Q	.	R	-	2	0	TRPV6	142280247	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.423000	0.80229	2.707000	0.92482	0.655000	0.94253	CGG		0.662	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	Missense_Mutation	T	142570125	C	T	142570125	5	4	274	1	0	0	0	0	0	0	1	0	16597	666	23	2	290	2	TRPV6	7	142570125	Splice_Site	SNP	C	TCGA-76-6656-01A-11D-1845-08	14124661	142570125	16568538	49	19592											
MSR1	4481	broad.mit.edu	37	chr8	16012638	16012638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatctcctttttcacccGggggtccaggaggaccttta	6	12	10	13	2	2	0	1	0	1	0	5	3	3	2	4	4	0	0	4	4	1	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:16012638G>A	ENST00000262101.5	-	6	954	c.833C>T	c.(832-834)cCg>cTg	p.P278L	MSR1_ENST00000355282.2_Missense_Mutation_p.P278L|MSR1_ENST00000536385.1_Missense_Mutation_p.P52L|MSR1_ENST00000381998.4_Missense_Mutation_p.P278L|MSR1_ENST00000445506.2_Missense_Mutation_p.P296L|MSR1_ENST00000350896.3_Missense_Mutation_p.P278L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	278	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTTTCACCCGGGGGTCCAGG	0.398																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(886-888)cCg>cTg		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.																																				SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16012638G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.833C>T	8.37:g.16012638G>A	ENSP00000262101:p.Pro278Leu					MSR1_uc003wwz.3_Missense_Mutation_p.P278L|MSR1_uc003wxa.3_Missense_Mutation_p.P278L|MSR1_uc003wxb.3_Missense_Mutation_p.P278L|MSR1_uc011kxz.2_Missense_Mutation_p.P52L	p.P296L	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	5	951	-			278			Collagen-like.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.887C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534952	0.45073	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.97731	-4.23;-4.51;-4.51;-4.23;-4.09;-4.51;-4.51	4.87	0.391	0.16282	.	0.559846	0.15923	N	0.238001	D	0.95242	0.8457	L	0.50993	1.605	0.31445	N	0.671451	P;D;P;D;D	0.56287	0.948;0.958;0.948;0.975;0.958	B;B;B;P;B	0.45474	0.24;0.353;0.24;0.482;0.353	D	0.92418	0.5943	10	0.44086	T	0.13	.	7.4351	0.27150	0.0:0.2933:0.3222:0.3845	.	52;296;278;278;278	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	L	278;278;296;278;68;278;52	ENSP00000262100:P278L;ENSP00000262101:P278L;ENSP00000405453:P296L;ENSP00000347430:P278L;ENSP00000430536:P68L;ENSP00000371428:P278L;ENSP00000444414:P52L	ENSP00000262101:P278L	P	-	2	0	MSR1	16057009	0.989000	0.36119	0.998000	0.56505	0.842000	0.47809	0.157000	0.16402	0.241000	0.21283	0.650000	0.86243	CCG		0.398	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			A	16012638	G	A	16012638	3	1	274	1	0	0	0	0	1	0	0	0	9886	1116	39	2	590	2	MSR1	8	16012638	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		16012638	130351384	50	19593											
PRDM14	63978	broad.mit.edu	37	chr8	70964463	70964463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcaaaagatttaccaCagtacttgcatttgaagggc	13	10	11	7	0	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	5	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:70964463C>A	ENST00000276594.2	-	8	1766	c.1565G>T	c.(1564-1566)tGt>tTt	p.C522F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	522					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGATTTACCACAGTACTTGCA	0.517																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.3																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1564-1566)tGt>tTt		Homo sapiens PR domain containing 14 (PRDM14), mRNA.							162	151	155					8																	70964463		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70964463C>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1565G>T	8.37:g.70964463C>A	ENSP00000276594:p.Cys522Phe						p.C522F	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		7	1767	-	Breast(64;0.193)		522					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1565G>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560054	0.86335	.	.	ENSG00000147596	ENST00000276594	D	0.85861	-2.04	6.08	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.99573	4.635	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.97199	0.9863	10	0.87932	D	0	-22.1327	15.814	0.78586	0.0:0.934:0.0:0.066	.	522	Q9GZV8	PRD14_HUMAN	F	522	ENSP00000276594:C522F	ENSP00000276594:C522F	C	-	2	0	PRDM14	71127017	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.603000	0.67619	2.890000	0.99128	0.655000	0.94253	TGT		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			A	70964463	C	A	70964463	3	1	274	1	0	0	0	0	1	0	0	0	12455	478	17	5	154	5	PRDM14	8	70964463	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	54951825	70964463	75399559	51	19594											
MTDH	92140	broad.mit.edu	37	chr8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatacctctaaaacccGtccaaaacaggaaaaagctt	18	7	6	10	1	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	8	3	rs143317071	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:98731338G>A	ENST00000336273.3	+	10	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_ENST00000519934.1_Missense_Mutation_p.R425H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	481					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333													G|||	2	0.000399361	0	0	5008	,	,		17778	0		0.001	False		,,,				2504	0.001					uc003yhz.3																			0		p.T480T(1)|p.R481S(1)|p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1441-1443)cGt>cAt		Homo sapiens metadherin (MTDH), mRNA.		G	HIS/ARG	0,4406		0,0,2203	80	87	85		1442	4	1	8	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MTDH	NM_178812.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	481/583	98731338	2,13004	2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731338G>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1442G>A	8.37:g.98731338G>A	ENSP00000338235:p.Arg481His					MTDH_uc010mbf.3_Non-coding_Transcript	p.R481H	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		9	1770	+	Breast(36;2.56e-06)		481					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1442G>A	CCDS6274.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.05	2.719126	0.48622	0.0	2.33E-4	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.46819	0.86;0.86	5.97	3.96	0.45880	.	0.410363	0.26096	N	0.026376	T	0.23249	0.0562	N	0.08118	0	0.32155	N	0.583702	B	0.18013	0.025	B	0.12156	0.007	T	0.10870	-1.0611	10	0.42905	T	0.14	-0.6312	4.3769	0.11275	0.3615:0.0:0.6385:0.0	.	481	Q86UE4	LYRIC_HUMAN	H	481;425	ENSP00000338235:R481H;ENSP00000428168:R425H	ENSP00000338235:R481H	R	+	2	0	MTDH	98800514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.041000	0.41213	1.529000	0.49120	0.655000	0.94253	CGT		0.333	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			A	98731338	G	A	98731338	3	1	274	1	0	0	0	0	1	0	0	0	9917	1145	40	1	1480	1	MTDH	8	98731338	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	27766875	98731338	47632684	52	19595											
WISP1	8840	broad.mit.edu	37	chr8	134239690	134239690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgtgtaccagccagagGcatccatgaacttcacactt	10	10	9	12	0	1	2	1	1	0	1	2	2	2	2	3	2	3	3	3	2	2	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:134239690G>A	ENST00000250160.6	+	5	947	c.841G>A	c.(841-843)Gca>Aca	p.A281T	WISP1_ENST00000517423.1_Missense_Mutation_p.G129D|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000377863.2_Missense_Mutation_p.A109T|WISP1_ENST00000519433.1_Missense_Mutation_p.A36T|WISP1_ENST00000220856.6_Missense_Mutation_p.A194T	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	281	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAGCCAGAGGCATCCATGAA	0.527																																						uc003yub.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(841-843)Gca>Aca		Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.							106	95	99					8																	134239690		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239690G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.841G>A	8.37:g.134239690G>A	ENSP00000250160:p.Ala281Thr					WISP1_uc003yuc.3_Missense_Mutation_p.A194T|WISP1_uc010meb.3_Missense_Mutation_p.A109T|WISP1_uc010mec.3_Missense_Mutation_p.G129D|WISP1_uc010med.3_Missense_Mutation_p.A36T|WISP1_uc003yud.3_Non-coding_Transcript	p.A281T	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	947	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		281			CTCK.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.841G>A	CCDS6371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.298821|2.298821	0.40694|0.40694	.|.	.|.	ENSG00000104415|ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856|ENST00000517423	D;D;D;D|T	0.91011|0.73575	-2.77;-2.77;-2.77;-2.77|-0.76	5.63|5.63	4.71|4.71	0.59529|0.59529	Cystine knot (1);Cystine knot, C-terminal (2);|.	0.844676|.	0.10728|.	N|.	0.640929|.	T|T	0.53753|0.53753	0.1816|0.1816	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	P;P;D;P|B	0.53151|0.27559	0.622;0.737;0.958;0.728|0.181	B;B;P;B|B	0.50860|0.24006	0.217;0.338;0.652;0.257|0.05	T|T	0.26360|0.26360	-1.0105|-1.0105	10|9	0.66056|0.18276	D|T	0.02|0.48	-14.7141|-14.7141	16.3234|16.3234	0.82961|0.82961	0.0:0.1317:0.8683:0.0|0.0:0.1317:0.8683:0.0	.|.	36;109;194;281|129	O95388-3;Q5JBS7;O95388-2;O95388|E7EMM5	.;.;.;WISP1_HUMAN|.	T|D	281;36;109;194|129	ENSP00000250160:A281T;ENSP00000429185:A36T;ENSP00000367094:A109T;ENSP00000220856:A194T|ENSP00000427744:G129D	ENSP00000220856:A194T|ENSP00000427744:G129D	A|G	+|+	1|2	0|0	WISP1|WISP1	134308872|134308872	0.107000|0.107000	0.21998|0.21998	0.056000|0.056000	0.19401|0.19401	0.534000|0.534000	0.34807|0.34807	2.355000|2.355000	0.44107|0.44107	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.527	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		A	134239690	G	A	134239690	3	1	274	1	0	0	0	0	1	0	0	0	17369	1203	42	3	859	3	WISP1	8	134239690	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	35508352	134239690	12124332	53	19596											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaactgctttacacccTttttcccaagttttgtgata	8	18	5	10	0	1	2	0	2	1	0	2	2	2	2	2	0	3	2	2	0	4	8			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						uc003zhp.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)aAg>aGg		Homo sapiens KIAA0020 (KIAA0020), mRNA.							259	237	244					9																	2837296		1837	4098	5935	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296T>C	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg					KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R	p.K63R	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	2	284	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.188A>G	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG		0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		C	2837296	T	C	2837296	3	2	274	1	0	0	0	0	1	0	0	0	8152	1609	56	4	1822	4	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		2837296	138376135	54	19597											
FAM75C1	441452	broad.mit.edu	37	chr9	90536630	90536630	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccgtgagtgtgcGtcgatcctggcttgctgtca	4	13	12	12	3	1	2	1	2	0	0	4	3	3	2	3	1	2	2	3	1	0	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:90536630G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTGAGTGTGCGTCGATCCTGG	0.512																																						uc010mqi.3																			0											c.(1807-1809)cGt>cAt		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							32	29	30					9																	90536630		692	1591	2283			441452							g.chr9:90536630G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536630G>A						FAM75C1_uc004apq.4_Missense_Mutation_p.R586H	p.R603H	NM_001145124	NP_001138596					3	1837	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1808G>A																																																																																					0.512	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		A	90536630	G	A	90536630	1	1	274	0	1	0	0	0	0	0	0	0	5623	1145	40	1		1	FAM75C1	9	90536630	RNA	SNP	G	TCGA-76-6656-01A-11D-1845-08	87699334	90536630	50676801	55	19598											
BICD2	23299	broad.mit.edu	37	chr9	95481762	95481762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcagattctctgtgaggcGggtcaccttctcctgctgtt	5	14	10	12	1	4	2	2	1	2	1	6	2	4	2	2	2	1	2	2	2	0	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:95481762G>A	ENST00000375512.3	-	5	1232	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	BICD2_ENST00000356884.6_Missense_Mutation_p.R389C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	389					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGTGAGGCGGGTCACCTTC	0.647																																						uc004asp.1																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1165-1167)Cgc>Tgc		Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.							51	49	50					9																	95481762		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481762G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1165C>T	9.37:g.95481762G>A	ENSP00000364662:p.Arg389Cys					BICD2_uc004aso.1_Missense_Mutation_p.R389C	p.R389C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN			4	1222	-			389					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1165C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420301	0.83559	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.48201	0.82;0.82	4.77	4.77	0.60923	.	0.249082	0.40908	D	0.000995	T	0.68485	0.3006	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72513	-0.4270	10	0.66056	D	0.02	-16.3574	15.6624	0.77197	0.0:0.0:1.0:0.0	.	389;389	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	389	ENSP00000349351:R389C;ENSP00000364662:R389C	ENSP00000349351:R389C	R	-	1	0	BICD2	94521583	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.193000	0.58385	2.372000	0.80975	0.561000	0.74099	CGC		0.647	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		A	95481762	G	A	95481762	3	1	274	1	0	0	0	0	1	0	0	0	1429	1116	39	2	1424	2	BICD2	9	95481762	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	4945132	95481762	45731669	56	19599											
SH2D3C	10044	broad.mit.edu	37	chr9	130507103	130507103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggcctgctggctggAggtctcagtcgctgcccact	3	10	13	15	1	1	0	1	0	1	0	4	1	2	1	3	4	2	4	3	4	0	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:130507103A>G	ENST00000314830.8	-	7	1653	c.1540T>C	c.(1540-1542)Tcc>Ccc	p.S514P	SH2D3C_ENST00000373274.3_Missense_Mutation_p.S354P|SH2D3C_ENST00000373276.3_Missense_Mutation_p.S446P|SH2D3C_ENST00000420366.1_Missense_Mutation_p.S356P|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.S160P|SH2D3C_ENST00000373277.4_Missense_Mutation_p.S357P	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	514					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTGGCTGGAGGTCTCAGTC	0.622																																						uc004bsc.3																			0		p.T513N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1540-1542)Tcc>Ccc		Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.							117	126	123					9																	130507103		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507103A>G	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1540T>C	9.37:g.130507103A>G	ENSP00000317817:p.Ser514Pro					SH2D3C_uc010mxo.3_Missense_Mutation_p.S354P|SH2D3C_uc004bry.3_Missense_Mutation_p.S356P|SH2D3C_uc004brz.4_Missense_Mutation_p.S160P|SH2D3C_uc011mak.2_Missense_Mutation_p.S160P|SH2D3C_uc004bsb.3_Missense_Mutation_p.S446P|SH2D3C_uc004bsa.3_Missense_Mutation_p.S357P	p.S514P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			6	1682	-			514					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1540T>C	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	A	7.468	0.645998	0.14451	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.24350	2.65;2.64;2.4;2.65;1.86;2.66	5.5	1.79	0.24919	.	0.203089	0.52532	D	0.000073	T	0.05914	0.0154	N	0.00879	-1.12	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.29458	-1.0011	10	0.22706	T	0.39	-2.8529	2.7764	0.05349	0.2975:0.0:0.3035:0.3989	.	354;514;446;357;356	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	P	357;356;446;354;160;514	ENSP00000362374:S357P;ENSP00000388536:S356P;ENSP00000362373:S446P;ENSP00000362371:S354P;ENSP00000394632:S160P;ENSP00000317817:S514P	ENSP00000317817:S514P	S	-	1	0	SH2D3C	129546924	1.000000	0.71417	0.992000	0.48379	0.618000	0.37518	1.077000	0.30741	0.371000	0.24564	0.379000	0.24179	TCC		0.622	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		G	130507103	A	G	130507103	3	3	274	1	0	0	0	0	1	0	0	0	14234	304	11	4	1066	4	SH2D3C	9	130507103	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	35025341	130507103	10706328	57	19600											
NTNG2	84628	broad.mit.edu	37	chr9	135042315	135042315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacagatgagggccccAcctgggagttctacgcctgc	8	7	12	14	1	1	3	0	2	1	1	1	4	1	4	5	2	2	1	5	2	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:135042315A>C	ENST00000393229.3	+	2	873	c.97A>C	c.(97-99)Acc>Ccc	p.T33P	NTNG2_ENST00000372179.3_Missense_Mutation_p.T33P|NTNG2_ENST00000393228.4_Missense_Mutation_p.T33P|NTNG2_ENST00000360670.3_Missense_Mutation_p.T33P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	33					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGAGGGCCCCACCTGGGAGTT	0.607																																						uc004cbh.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(97-99)Acc>Ccc		Homo sapiens netrin G2 (NTNG2), mRNA.							94	98	96					9																	135042315		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135042315A>C	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.97A>C	9.37:g.135042315A>C	ENSP00000376921:p.Thr33Pro						p.T33P	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	1	873	+			33					Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.97A>C	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235256	0.39498	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.66995	1.36;-0.24;-0.24;1.36	5.23	4.04	0.47022	Laminin, N-terminal (1);	0.267882	0.30850	N	0.008760	T	0.45935	0.1367	N	0.19112	0.55	0.37182	D	0.903544	B	0.30889	0.299	B	0.26094	0.066	T	0.52003	-0.8633	10	0.37606	T	0.19	.	7.6843	0.28532	0.6104:0.0:0.0:0.3896	.	33	Q96CW9	NTNG2_HUMAN	P	33	ENSP00000376921:T33P;ENSP00000376920:T33P;ENSP00000353888:T33P;ENSP00000361252:T33P	ENSP00000353888:T33P	T	+	1	0	NTNG2	134032136	0.710000	0.27896	1.000000	0.80357	0.997000	0.91878	1.535000	0.36061	1.964000	0.57103	0.459000	0.35465	ACC		0.607	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		C	135042315	A	C	135042315	3	2	274	1	0	0	0	0	1	0	0	0	10705	159	6	5	99	5	NTNG2	9	135042315	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	4535212	135042315	6171116	58	19601											
COL5A1	1289	broad.mit.edu	37	chr9	137716532	137716532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccagctgctggacgaCgggaatggcgagaactacgt	10	5	15	11	4	0	1	0	0	0	1	0	5	0	3	2	3	5	2	2	3	3	1	rs149981025		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:137716532C>T	ENST00000371817.3	+	62	5199	c.4785C>T	c.(4783-4785)gaC>gaT	p.D1595D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1595	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGCTGGACGACGGGAATGGCG	0.627																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4783-4785)gaC>gaT		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.		C		1,4405	6.2+/-15.9	0,1,2202	79	67	71		4785	-8.7	0.1	9	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1595/1839	137716532	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137716532C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4785C>T	9.37:g.137716532C>T						BC058547_uc004cff.3_Intron	p.D1595D	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	61	5167	+		Myeloproliferative disorder(178;0.0341)	1595			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4785C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	3.405	-0.121463	0.06838	2.27E-4	0.0	ENSG00000130635	ENST00000371820	.	.	.	4.34	-8.68	0.00859	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40646	-0.9552	4	.	.	.	.	1.9969	0.03459	0.2026:0.0899:0.2504:0.457	.	.	.	.	W	15	.	.	R	+	1	2	COL5A1	136856353	0.000000	0.05858	0.053000	0.19242	0.299000	0.27559	-3.436000	0.00471	-1.560000	0.01686	-0.270000	0.10280	CGG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137716532	C	T	137716532	2	4	274	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137716532	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	2674217	137716532	3496899	59	19602											
TET1	80312	broad.mit.edu	37	chr10	70332622	70332622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactctaattggtgtacAaaatccctctttacttaaag	14	13	6	8	0	2	1	0	0	2	1	3	2	3	1	1	1	2	1	1	1	7	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:70332622A>G	ENST00000373644.4	+	2	736	c.527A>G	c.(526-528)cAa>cGa	p.Q176R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	176					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGTGTACAAAATCCCTCT	0.433																																						uc001jok.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(526-528)cAa>cGa		Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.							67	68	68					10																	70332622		2202	4300	6502	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332622A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.527A>G	10.37:g.70332622A>G	ENSP00000362748:p.Gln176Arg						p.Q176R	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			1	1032	+			176					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.527A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	7.799	0.713179	0.15306	.	.	ENSG00000138336	ENST00000373644	T	0.08458	3.09	5.13	2.48	0.30137	.	0.396358	0.19121	N	0.122170	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	P	0.47409	0.895	P	0.47044	0.535	T	0.17561	-1.0365	10	0.49607	T	0.09	.	6.9935	0.24767	0.528:0.3823:0.0897:0.0	.	176	Q8NFU7	TET1_HUMAN	R	176	ENSP00000362748:Q176R	ENSP00000362748:Q176R	Q	+	2	0	TET1	70002628	0.009000	0.17119	0.165000	0.22776	0.008000	0.06430	2.217000	0.42880	0.737000	0.32582	0.460000	0.39030	CAA		0.433	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70332622	A	G	70332622	3	3	274	1	0	0	0	0	1	0	0	0	15766	130	5	4	529	4	TET1	10	70332622	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08		70332622	65202125	60	19603											
ATRNL1	26033	broad.mit.edu	37	chr10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttagtccaaatcaaaatgCgaggccgtgcaaaaagccat	16	7	9	9	2	1	0	1	0	0	0	2	1	2	0	3	1	3	2	3	1	6	1	rs140372621		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:117061383C>T	ENST00000355044.3	+	17	2774	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	883					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		17189	0		0	False		,,,				2504	0					uc001lcg.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2647-2649)gCg>gTg		Homo sapiens attractin-like 1 (ATRNL1), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	133	100	111		2648	4.5	1	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	ATRNL1	NM_207303.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	883/1380	117061383	1,13005	2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061383C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2648C>T	10.37:g.117061383C>T	ENSP00000347152:p.Ala883Val					ATRNL1_uc010qsm.2_Missense_Mutation_p.A58V|ATRNL1_uc010qsn.2_Non-coding_Transcript	p.A883V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	16	3034	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	883					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2648C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528344	0.44969	2.27E-4	0.0	ENSG00000107518	ENST00000355044	T	0.14144	2.53	5.41	4.51	0.55191	.	0.209770	0.50627	D	0.000116	T	0.09949	0.0244	N	0.24115	0.695	0.80722	D	1	B	0.25312	0.123	B	0.12837	0.008	T	0.13335	-1.0513	10	0.30078	T	0.28	-2.6064	14.1003	0.65051	0.0:0.9282:0.0:0.0718	.	883	Q5VV63	ATRN1_HUMAN	V	883	ENSP00000347152:A883V	ENSP00000347152:A883V	A	+	2	0	ATRNL1	117051373	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	5.999000	0.70665	1.295000	0.44724	-0.136000	0.14681	GCG		0.378	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117061383	C	T	117061383	3	4	274	1	0	0	0	0	1	0	0	0	1207	768	27	1	2714	1	ATRNL1	10	117061383	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	46728761	117061383	18473364	61	19604											
HSPA12A	259217	broad.mit.edu	37	chr10	118434624	118434624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaacttgtcaaagacgtCggtgcaccaccgagtgccat	11	8	11	11	3	1	2	1	1	0	1	2	4	1	2	3	1	3	1	3	1	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:118434624C>T	ENST00000369209.3	-	12	1800	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	566						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCAAAGACGTCGGTGCACCAC	0.622																																						uc001lct.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1696-1698)Gac>Aac		Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.							49	55	53					10																	118434624		2126	4226	6352	SO:0001583	missense	259217						ATP binding	g.chr10:118434624C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1696G>A	10.37:g.118434624C>T	ENSP00000358211:p.Asp566Asn					HSPA12A_uc001lcu.3_Missense_Mutation_p.D483N	p.D566N	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	11	1801	-			566						Missense_Mutation	SNP	ENST00000369209.3	37	c.1696G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210504	0.79240	.	.	ENSG00000165868	ENST00000369209	T	0.48522	0.81	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.52126	1.63	0.80722	D	1	P	0.43169	0.8	P	0.49047	0.599	T	0.39057	-0.9632	10	0.26408	T	0.33	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	566	O43301	HS12A_HUMAN	N	566	ENSP00000358211:D566N	ENSP00000358211:D566N	D	-	1	0	HSPA12A	118424614	1.000000	0.71417	0.948000	0.38648	0.648000	0.38561	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GAC		0.622	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		T	118434624	C	T	118434624	3	4	274	1	0	0	0	0	1	0	0	0	7404	884	31	2	335	2	HSPA12A	10	118434624	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	1373241	118434624	17100123	62	19605											
TRIM21	6737	broad.mit.edu	37	chr11	4410895	4410895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcttaccttccagtctgCtctctttattgcaatttcca	7	18	3	13	0	3	0	0	0	3	0	6	0	5	0	3	0	3	2	3	0	3	7	rs375865854		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4410895C>A	ENST00000254436.7	-	3	605	c.493G>T	c.(493-495)Gca>Tca	p.A165S	TRIM21_ENST00000543625.1_Missense_Mutation_p.A165S	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	165					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCCAGTCTGCTCTCTTTATT	0.507																																						uc001lyy.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(493-495)Gca>Tca		Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.							225	214	217					11																	4410895		1964	4160	6124	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4410895C>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.493G>T	11.37:g.4410895C>A	ENSP00000254436:p.Ala165Ser						p.A165S	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	606	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	165					Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.493G>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739640	0.30774	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.04654	3.58;3.58	4.45	0.31	0.15825	.	0.413435	0.20876	N	0.084090	T	0.05640	0.0148	M	0.63208	1.945	0.18873	N	0.999984	B	0.15141	0.012	B	0.15870	0.014	T	0.29305	-1.0016	10	0.41790	T	0.15	.	6.4677	0.21991	0.0:0.5406:0.0:0.4594	.	165	P19474	RO52_HUMAN	S	165	ENSP00000254436:A165S;ENSP00000444045:A165S	ENSP00000254436:A165S	A	-	1	0	TRIM21	4367471	0.002000	0.14202	0.996000	0.52242	0.845000	0.48019	0.143000	0.16115	0.064000	0.16427	0.655000	0.94253	GCA		0.507	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		A	4410895	C	A	4410895	3	1	274	1	0	0	0	0	1	0	0	0	16492	797	28	5	954	5	TRIM21	11	4410895	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		4410895	130595621	63	19606											
OR51G1	79324	broad.mit.edu	37	chr11	4944754	4944754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaagaggtgtacaacGcggggcagatgttcaccaaa	14	6	13	8	2	1	3	1	1	0	2	1	4	1	3	1	3	2	3	1	3	4	2	rs372747926		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4944754G>A	ENST00000321961.2	-	1	883	c.816C>T	c.(814-816)cgC>cgT	p.R272R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(814-816)cgC>cgT		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.		G		1,4401	2.1+/-5.4	0,1,2200	199	165	176		816	-2.6	0	11		176	0,8596		0,0,4298	no	coding-synonymous	OR51G1	NM_001005237.1		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		272/322	4944754	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944754G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.816C>T	11.37:g.4944754G>A							p.R272R	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	816	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	272					B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.816C>T	CCDS31366.1																																																																																				0.498	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		A	4944754	G	A	4944754	2	1	274	1	0	0	0	0	0	0	0	1	11098	1074	38	1		1	OR51G1	11	4944754	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	533859	4944754	130061762	64	19607											
C11orf41	25758	broad.mit.edu	37	chr11	33566719	33566719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccaccaacctggagatGcccagagcatccacgccacg	12	3	8	18	2	0	2	0	0	0	2	1	3	1	2	7	1	4	1	7	1	2	0	rs367876874		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:33566719G>A	ENST00000321505.4	+	2	2469	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.M769I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.M769I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	763						integral component of membrane (GO:0016021)											ACCTGGAGATGCCCAGAGCAT	0.592																																						uc021qfs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2287-2289)atG>atA		Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.		G	ILE/MET	0,4344		0,0,2172	115	144	134		2289	-1.9	0	11		134	1,8541		0,1,4270	no	missense	C11orf41	NM_012194.2	10	0,1,6442	AA,AG,GG		0.0117,0.0,0.0078	benign	763/1850	33566719	1,12885	2172	4271	6443	SO:0001583	missense	25758					integral to membrane		g.chr11:33566719G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2289G>A	11.37:g.33566719G>A	ENSP00000315295:p.Met763Ile					C11orf41_uc001mun.1_Missense_Mutation_p.M769I	p.M763I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	2413	+			763					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.2289G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.644|6.644	0.487342|0.487342	0.12641|0.12641	0.0|0.0	1.17E-4|1.17E-4	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.52|5.52	-1.92|-1.92	0.07618|0.07618	.|.	.|1.884210	.|0.02288	.|N	.|0.070041	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16396	.|0.001;0.017	.|B;B	.|0.10450	.|0.001;0.005	T|T	0.09400|0.09400	-1.0676|-1.0676	5|9	.|0.21014	.|T	.|0.42	3.9936|3.9936	3.0268|3.0268	0.06094|0.06094	0.1539:0.4514:0.1915:0.2032|0.1539:0.4514:0.1915:0.2032	.|.	.|769;769	.|E9PAT2;Q6ZVL6-2	.|.;.	Y|I	161|763;769;769;602	.|.	.|ENSP00000265654:M769I	C|M	+|+	2|3	0|0	C11orf41|C11orf41	33523295|33523295	0.618000|0.618000	0.27051|0.27051	0.042000|0.042000	0.18584|0.18584	0.956000|0.956000	0.61745|0.61745	0.792000|0.792000	0.26929|0.26929	-0.045000|-0.045000	0.13468|0.13468	0.561000|0.561000	0.74099|0.74099	TGC|ATG		0.592	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		A	33566719	G	A	33566719	3	1	274	1	0	0	0	0	1	0	0	0	1640	1319	46	3	2313	3	C11orf41	11	33566719	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	28621965	33566719	101439797	65	19608											
LRRC4C	57689	broad.mit.edu	37	chr11	40136459	40136459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatcctgagacggttccaTagtctctactgtgacggttg	7	13	10	11	2	2	2	1	2	1	1	5	3	4	2	2	2	1	2	2	2	2	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:40136459T>C	ENST00000278198.2	-	2	3347	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M462V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M462V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M462V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	462					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACGGTTCCATAGTCTCTACT	0.507																																						uc021qgf.1																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1384-1386)Atg>Gtg		Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.							135	129	131					11																	40136459		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136459T>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1384A>G	11.37:g.40136459T>C	ENSP00000278198:p.Met462Val					LRRC4C_uc001mxc.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxd.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxa.1_Missense_Mutation_p.M462V|LRRC4C_uc001mxb.1_Missense_Mutation_p.M458V	p.M462V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			0	1384	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	462					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1384A>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.505287	0.00992	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.84	5.84	0.93424	.	0.124501	0.64402	D	0.000001	T	0.27313	0.0670	N	0.12182	0.205	0.38608	D	0.95082	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.17832	T	0.49	.	9.7073	0.40222	0.0:0.0842:0.0:0.9158	.	462	Q9HCJ2	LRC4C_HUMAN	V	462	ENSP00000278198:M462V;ENSP00000436976:M462V;ENSP00000437132:M462V;ENSP00000434761:M462V	ENSP00000278198:M462V	M	-	1	0	LRRC4C	40093035	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.959000	0.63666	2.228000	0.72767	0.533000	0.62120	ATG		0.507	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40136459	T	C	40136459	3	2	274	1	0	0	0	0	1	0	0	0	9008	1406	49	4	542	4	LRRC4C	11	40136459	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	6569740	40136459	94870057	66	19609											
INCENP	3619	broad.mit.edu	37	chr11	61895641	61895641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagagccaccatggggaCgacggccccagggcccattc	10	3	13	15	2	0	2	0	0	0	2	1	4	0	3	5	4	1	0	5	4	0	1	rs61744797	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:61895641C>T	ENST00000394818.3	+	2	210	c.8C>T	c.(7-9)aCg>aTg	p.T3M	INCENP_ENST00000278849.4_Missense_Mutation_p.T3M	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	3					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCATGGGGACGACGGCCCCA	0.567																																						uc001nsw.1																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(7-9)aCg>aTg		Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.							72	70	71					11																	61895641		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61895641C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.8C>T	11.37:g.61895641C>T	ENSP00000378295:p.Thr3Met					INCENP_uc009ynv.3_Missense_Mutation_p.T3M|INCENP_uc009ynw.1_Missense_Mutation_p.T3M|INCENP_uc001nsx.1_Missense_Mutation_p.T3M	p.T3M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			1	210	+			3					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.8C>T	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066378	0.55539	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.26810	2.31;1.71;2.31	5.17	5.17	0.71159	.	0.224654	0.31312	N	0.007873	T	0.41351	0.1155	L	0.44542	1.39	0.28260	N	0.92486	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66351	0.869;0.943;0.878	T	0.26258	-1.0108	10	0.87932	D	0	.	14.192	0.65644	0.0:1.0:0.0:0.0	.	3;3;3	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	M	3	ENSP00000378295:T3M;ENSP00000433100:T3M;ENSP00000278849:T3M	ENSP00000278849:T3M	T	+	2	0	INCENP	61652217	0.840000	0.29493	0.953000	0.39169	0.994000	0.84299	1.516000	0.35856	2.422000	0.82143	0.643000	0.83706	ACG		0.567	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		T	61895641	C	T	61895641	3	4	274	1	0	0	0	0	1	0	0	0	7733	536	19	1	10	1	INCENP	11	61895641	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	21759182	61895641	73110875	67	19610											
RSF1	51773	broad.mit.edu	37	chr11	77413468	77413468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagtctcttctagaacaTtggctgtagaacggttttct	9	15	9	8	1	3	2	0	0	3	2	4	2	3	2	0	2	2	4	0	2	5	7			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:77413468T>C	ENST00000308488.6	-	6	1108	c.806A>G	c.(805-807)aAt>aGt	p.N269S	RSF1_ENST00000360355.2_Missense_Mutation_p.N238S|RSF1_ENST00000480887.1_Missense_Mutation_p.N17S			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	269	Glu-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTAGAACATTGGCTGTAGA	0.348																																						uc001oyn.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(805-807)aAt>aGt		Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.							63	70	67					11																	77413468		2186	4238	6424	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77413468T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.806A>G	11.37:g.77413468T>C	ENSP00000311513:p.Asn269Ser					RSF1_uc001oym.3_Missense_Mutation_p.N17S	p.N269S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		5	926	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		269			Glu-rich.		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.806A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	4.447	0.082673	0.08533	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86030	-2.02;-1.92;-2.06;-1.97;1.45	5.28	-6.63	0.01807	.	1.190790	0.05920	N	0.633251	T	0.67239	0.2872	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59161	-0.7506	10	0.05721	T	0.95	-1.2886	5.3212	0.15881	0.107:0.4461:0.0898:0.3571	.	269	Q96T23	RSF1_HUMAN	S	269;17;238;70;268	ENSP00000311513:N269S;ENSP00000434509:N17S;ENSP00000353511:N238S;ENSP00000432022:N70S;ENSP00000436408:N268S	ENSP00000311513:N269S	N	-	2	0	RSF1	77091116	0.000000	0.05858	0.000000	0.03702	0.845000	0.48019	-1.326000	0.02685	-1.035000	0.03291	0.533000	0.62120	AAT		0.348	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		C	77413468	T	C	77413468	3	2	274	1	0	0	0	0	1	0	0	0	13699	1493	52	4	3563	4	RSF1	11	77413468	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	15517827	77413468	57593048	68	19611											
KCNJ5	3762	broad.mit.edu	37	chr11	128786516	128786516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtacctccccagccccCcactgctggggggctgtgct	4	8	11	18	0	0	0	0	0	0	0	2	0	2	0	7	3	4	4	7	3	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:128786516C>T	ENST00000338350.4	+	4	1502	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	KCNJ5_ENST00000533599.1_Missense_Mutation_p.P384S|KCNJ5_ENST00000529694.1_Missense_Mutation_p.P384S			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	384					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCCCAGCCCCCCACTGCTGGG	0.627																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1150-1152)Cca>Tca		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	Glibenclamide(DB01016)						36	41	39					11																	128786516		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786516C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1150C>T	11.37:g.128786516C>T	ENSP00000339960:p.Pro384Ser					KCNJ5_uc009zck.3_Missense_Mutation_p.P384S|KCNJ5_uc001qew.3_Missense_Mutation_p.P384S	p.P384S	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1464	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	384					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.1150C>T	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	c	4.903	0.167754	0.09339	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.88509	-2.39;-2.39;-2.39	4.18	3.18	0.36537	.	0.747671	0.12138	N	0.496165	T	0.71804	0.3383	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59375	-0.7466	10	0.07813	T	0.8	.	4.9775	0.14148	0.3093:0.5769:0.0:0.1137	.	384	P48544	IRK5_HUMAN	S	384	ENSP00000433295:P384S;ENSP00000339960:P384S;ENSP00000434266:P384S	ENSP00000339960:P384S	P	+	1	0	KCNJ5	128291726	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.487000	0.22356	2.183000	0.69458	0.466000	0.42574	CCA		0.627	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		T	128786516	C	T	128786516	3	4	274	1	0	0	0	0	1	0	0	0	8054	623	22	3	1156	3	KCNJ5	11	128786516	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	51373048	128786516	6220000	69	19612											
LGR5	8549	broad.mit.edu	37	chr12	71977624	71977624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggagtctccagtgccGtgctggctggtgtggatgcg	4	10	17	10	3	2	0	1	0	1	0	3	2	2	2	2	4	3	2	2	4	0	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:71977624G>A	ENST00000266674.5	+	18	2145	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M	LGR5_ENST00000540815.2_Missense_Mutation_p.V588M|LGR5_ENST00000536515.1_Missense_Mutation_p.V540M|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	612					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCAGTGCCGTGCTGGCTGG	0.507																																						uc001swl.3																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1834-1836)Gtg>Atg		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.							146	114	125					12																	71977624		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977624G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1834G>A	12.37:g.71977624G>A	ENSP00000266674:p.Val612Met					LGR5_uc001swm.3_Missense_Mutation_p.V588M|LGR5_uc021rar.1_Missense_Mutation_p.V540M|LGR5_uc001swn.1_Non-coding_Transcript	p.V612M	NM_003667	NP_003658	O75473	LGR5_HUMAN			17	1882	+			612					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1834G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	6.885	0.532816	0.13127	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.86694	-2.16;-2.16;-2.16	5.84	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.247509	0.28382	N	0.015556	D	0.83312	0.5227	L	0.58428	1.81	0.35365	D	0.788516	B;B	0.25667	0.108;0.131	B;B	0.23275	0.027;0.045	T	0.80870	-0.1189	10	0.42905	T	0.14	.	11.4947	0.50402	0.1887:0.0:0.8113:0.0	.	588;612	O75473-2;O75473	.;LGR5_HUMAN	M	612;612;540;588	ENSP00000266674:V612M;ENSP00000443033:V540M;ENSP00000441035:V588M	ENSP00000266674:V612M	V	+	1	0	LGR5	70263891	0.081000	0.21417	0.230000	0.23976	0.022000	0.10575	1.050000	0.30404	0.378000	0.24764	0.655000	0.94253	GTG		0.507	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		A	71977624	G	A	71977624	3	1	274	1	0	0	0	0	1	0	0	0	8757	1145	40	1	1904	1	LGR5	12	71977624	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		71977624	61874271	70	19613											
CCDC41	51134	broad.mit.edu	37	chr12	94761707	94761707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaatctgctaatctgttCtcgagttctaacctaaaaca	13	13	4	11	1	4	0	0	0	4	0	6	1	5	0	2	0	3	3	2	0	5	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:94761707C>G	ENST00000397809.5	-	11	1755	c.1206G>C	c.(1204-1206)gaG>gaC	p.E402D	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000339839.5_Missense_Mutation_p.E402D|CCDC41_ENST00000397807.2_Missense_Mutation_p.E369D	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		394					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTAATCTGTTCTCGAGTTCTA	0.343																																						uc001tdd.3																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1204-1206)gaG>gaC		Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.							140	122	128					12																	94761707		1840	4094	5934	SO:0001583	missense	51134							g.chr12:94761707C>G																												ENST00000397809.5:c.1206G>C	12.37:g.94761707C>G	ENSP00000380911:p.Glu402Asp					CCDC41_uc001tde.3_Missense_Mutation_p.E402D|CCDC41_uc009zsw.1_Non-coding_Transcript	p.E402D	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			10	1792	-			394					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1206G>C	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038023	0.75617	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.60548	0.18;0.18;0.4	5.83	4.95	0.65309	.	.	.	.	.	T	0.71056	0.3295	M	0.61703	1.905	0.40003	D	0.975196	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.99	T	0.73014	-0.4116	9	0.51188	T	0.08	-11.6861	11.0262	0.47746	0.0:0.8585:0.0:0.1415	.	369;394	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	D	402;402;369	ENSP00000344655:E402D;ENSP00000380911:E402D;ENSP00000380909:E369D	ENSP00000344655:E402D	E	-	3	2	CCDC41	93285838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.251000	0.32862	1.481000	0.48307	0.655000	0.94253	GAG		0.343	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			G	94761707	C	G	94761707	3	3	274	1	0	0	0	0	1	0	0	0	2813	912	32	5	927	5	CCDC41	12	94761707	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	22784083	94761707	39090188	71	19614											
RBM19	9904	broad.mit.edu	37	chr12	114282581	114282581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgctgtgacacagggCgttgaaggctctctgcagag	7	9	17	8	1	1	3	0	2	1	1	2	3	1	3	0	3	2	4	0	3	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:114282581C>T	ENST00000545145.2	-	23	2755	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	RBM19_ENST00000392561.3_Missense_Mutation_p.A893T|RBM19_ENST00000261741.5_Missense_Mutation_p.A893T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	893	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGACACAGGGCGTTGAAGGCT	0.642																																						uc009zwi.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2677-2679)Gcc>Acc		Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.							43	40	41					12																	114282581		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114282581C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2677G>A	12.37:g.114282581C>T	ENSP00000442053:p.Ala893Thr					RBM19_uc001tvn.4_Missense_Mutation_p.A893T|RBM19_uc001tvm.3_Missense_Mutation_p.A893T	p.A893T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN			22	2821	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		893			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2677G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693349	0.88735	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.17691	2.26;2.26;2.26	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.41710	1.295	0.80722	D	1	D	0.56521	0.976	P	0.51385	0.668	T	0.00414	-1.1754	10	0.45353	T	0.12	-22.6444	12.8949	0.58093	0.0:0.9206:0.0:0.0794	.	893	Q9Y4C8	RBM19_HUMAN	T	893	ENSP00000442053:A893T;ENSP00000376344:A893T;ENSP00000261741:A893T	ENSP00000261741:A893T	A	-	1	0	RBM19	112766964	1.000000	0.71417	0.958000	0.39756	0.931000	0.56810	4.418000	0.59828	2.449000	0.82847	0.561000	0.74099	GCC		0.642	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114282581	C	T	114282581	3	4	274	1	0	0	0	0	1	0	0	0	13121	768	27	1	213	1	RBM19	12	114282581	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	19520874	114282581	19569314	72	19615											
RNF17	56163	broad.mit.edu	37	chr13	25417989	25417989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcctgtgtctgcaaaatCtctacctaatgagaattttc	13	14	5	9	0	2	1	0	1	2	1	5	2	3	1	2	0	2	1	2	0	6	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:25417989C>T	ENST00000255324.5	+	20	2763	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.S904F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	904					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGCAAAATCTCTACCTAAT	0.323																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2710-2712)tCt>tTt		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							61	62	62					13																	25417989		2203	4292	6495	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25417989C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2711C>T	13.37:g.25417989C>T	ENSP00000255324:p.Ser904Phe					RNF17_uc010tdd.1_Missense_Mutation_p.S763F|RNF17_uc010tde.2_Missense_Mutation_p.S904F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S843F|RNF17_uc010aac.3_Missense_Mutation_p.S102F|RNF17_uc010aad.3_5'UTR	p.S904F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2752	+		Lung SC(185;0.0225)|Breast(139;0.077)	904					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2711C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	0.445	-0.896484	0.02472	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.13420	3.37;3.37;2.59	4.54	3.68	0.42216	.	0.421766	0.22456	N	0.059829	T	0.07503	0.0189	N	0.17082	0.46	0.80722	D	1	B;B;B	0.15473	0.013;0.004;0.008	B;B;B	0.12156	0.007;0.007;0.006	T	0.22103	-1.0226	10	0.33940	T	0.23	-15.341	6.217	0.20661	0.0:0.8197:0.0:0.1803	.	904;904;904	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	F	904;904;763;228	ENSP00000255324:S904F;ENSP00000371346:S904F;ENSP00000388892:S228F	ENSP00000255324:S904F	S	+	2	0	RNF17	24315989	0.992000	0.36948	1.000000	0.80357	0.352000	0.29268	1.104000	0.31074	2.513000	0.84729	0.591000	0.81541	TCT		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25417989	C	T	25417989	3	4	274	1	0	0	0	0	1	0	0	0	13461	913	32	3	2789	3	RNF17	13	25417989	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		25417989	89751889	73	19616											
SHISA2	387914	broad.mit.edu	37	chr13	26621160	26621160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccaagatgataaaggCgacaaacacggagccaacaa	18	2	10	11	2	0	2	0	1	0	1	0	5	0	4	3	3	3	0	3	3	6	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:26621160C>T	ENST00000319420.3	-	2	434	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	127					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						ATGATAAAGGCGACAAACACG	0.542																																						uc001uqm.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(379-381)Gcc>Acc		Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.							77	64	68					13																	26621160		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621160C>T		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.379G>A	13.37:g.26621160C>T	ENSP00000313079:p.Ala127Thr						p.A127T	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			1	464	-			127					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.379G>A	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195112	0.94960	.	.	ENSG00000180730	ENST00000319420	T	0.44083	0.93	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56992	-0.7887	10	0.22109	T	0.4	-36.1913	17.7042	0.88304	0.0:1.0:0.0:0.0	.	127	Q6UWI4	SHSA2_HUMAN	T	127	ENSP00000313079:A127T	ENSP00000313079:A127T	A	-	1	0	SHISA2	25519160	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.818000	0.86416	2.173000	0.68751	0.557000	0.71058	GCC		0.542	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		T	26621160	C	T	26621160	3	4	274	1	0	0	0	0	1	0	0	0	14280	768	27	1	512	1	SHISA2	13	26621160	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	1203171	26621160	88548718	74	19617											
C13orf18	80183	broad.mit.edu	37	chr13	46937309	46937309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacatcatggtaagtaCgtgtttcagtcactgggctg	8	14	10	9	1	4	0	4	0	0	0	4	0	4	0	0	2	1	4	0	2	2	4	rs372724179		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:46937309C>T	ENST00000429979.1	-	6	1470	c.866G>A	c.(865-867)cGt>cAt	p.R289H	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.R132H|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.R154H|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.R132H|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.R289H|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.R289H|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.R289H|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.R289H|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.R222H	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	289										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATGGTAAGTACGTGTTTCAGT	0.393																																						uc010acl.3																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(865-867)cGt>cAt		Homo sapiens KIAA0226-like (KIAA0226L), mRNA.		C	HIS/ARG	0,4406		0,0,2203	149	126	134		866	2.8	0	13		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0226L	NM_025113.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	289/663	46937309	1,13005	2203	4300	6503	SO:0001583	missense	80183							g.chr13:46937309C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.866G>A	13.37:g.46937309C>T	ENSP00000396935:p.Arg289His					KIAA0226L_uc001vbf.4_Missense_Mutation_p.R222H|KIAA0226L_uc010tfz.2_Missense_Mutation_p.R132H|KIAA0226L_uc010acn.3_Missense_Mutation_p.R74H|KIAA0226L_uc010acm.3_Missense_Mutation_p.R154H|KIAA0226L_uc001vbe.4_Missense_Mutation_p.R289H|KIAA0226L_uc001vbh.4_Missense_Mutation_p.R289H|KIAA0226L_uc001vbi.4_Missense_Mutation_p.R132H|KIAA0226L_uc010aco.1_Missense_Mutation_p.R289H	p.R289H	NM_025113	NP_079389	Q9H714	CM018_HUMAN			5	1471	-			289					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.866G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	6.938	0.542906	0.13250	0.0	1.16E-4	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T;T	0.45668	0.89;0.91;0.89;0.92;0.91;0.89;0.93	5.53	2.85	0.33270	.	0.454383	0.22876	N	0.054577	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	P;P;P;P;P;D;D	0.57571	0.937;0.935;0.937;0.893;0.893;0.963;0.98	B;B;B;B;B;B;P	0.44597	0.197;0.36;0.197;0.197;0.197;0.36;0.454	T	0.10941	-1.0608	10	0.13108	T	0.6	-0.2497	6.3665	0.21457	0.1677:0.1533:0.679:0.0	.	132;289;132;289;154;222;289	B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;.;K226L_HUMAN;.;.;.	H	289;289;289;222;289;289;132;132;154	ENSP00000368057:R289H;ENSP00000396935:R289H;ENSP00000368074:R289H;ENSP00000368061:R222H;ENSP00000374558:R289H;ENSP00000368064:R289H;ENSP00000437501:R154H	ENSP00000315633:R132H	R	-	2	0	KIAA0226L	45835310	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.345000	0.33953	0.375000	0.24679	-0.841000	0.03054	CGT		0.393	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		T	46937309	C	T	46937309	3	4	274	1	0	0	0	0	1	0	0	0	1720	536	19	1	1162	1	C13orf18	13	46937309	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	20316149	46937309	68232569	75	19618											
PCDH17	27253	broad.mit.edu	37	chr13	58299189	58299189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacagtcaatatctgtcaCctagtaagcaaccaagagac	15	8	7	11	0	3	2	2	1	1	1	3	3	3	2	2	0	2	2	2	0	6	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:58299189C>G	ENST00000377918.3	+	4	3267	c.3241C>G	c.(3241-3243)Cct>Gct	p.P1081A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1081					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCTGTCACCTAGTAAGCA	0.527																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3241-3243)Cct>Gct		Homo sapiens protocadherin 17 (PCDH17), mRNA.							124	119	121					13																	58299189		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299189C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3241C>G	13.37:g.58299189C>G	ENSP00000367151:p.Pro1081Ala					PCDH17_uc010aec.1_Missense_Mutation_p.P1080A|PCDH17_uc001vhr.1_Missense_Mutation_p.P170A	p.P1081A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	3	4133	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1081					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3241C>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466932	0.63625	.	.	ENSG00000118946	ENST00000377918	T	0.55930	0.49	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.43152	1.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.61307	-0.7089	9	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	1081	O14917	PCD17_HUMAN	A	1081	ENSP00000367151:P1081A	.	P	+	1	0	PCDH17	57197190	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	CCT		0.527	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		G	58299189	C	G	58299189	3	3	274	1	0	0	0	0	1	0	0	0	11512	507	18	5	3255	5	PCDH17	13	58299189	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	11361880	58299189	56870689	76	19619											
DACH1	1602	broad.mit.edu	37	chr13	72147083	72147083	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgccatggtgacagaTgctggaggtaggctgacagg	9	9	15	8	0	1	3	1	2	0	1	1	4	1	4	1	5	2	3	1	5	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:72147083T>C	ENST00000359684.2	-	5	1349	c.1350A>G	c.(1348-1350)gcA>gcG	p.A450A	DACH1_ENST00000305425.4_Silent_p.A398A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	450					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTGACAGATGCTGGAGGTA	0.473																																						uc021rkj.1																			0		p.A398T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1192-1194)gcA>gcG		Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.							100	102	102					13																	72147083		2083	4246	6329	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147083T>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1350A>G	13.37:g.72147083T>C						DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	p.A398A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1617	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	448					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1194A>G																																																																																					0.473	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		C	72147083	T	C	72147083	2	2	274	1	0	0	0	0	0	0	0	1	4220	1451	51	4		4	DACH1	13	72147083	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	13847894	72147083	43022795	77	19620											
ARID4A	5926	broad.mit.edu	37	chr14	58771705	58771705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaattggtacaagatgAccaagtaaagggtcctttaa	16	9	8	8	0	0	2	0	1	0	1	1	2	1	2	2	2	1	2	2	2	7	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:58771705A>G	ENST00000355431.3	+	4	534	c.161A>G	c.(160-162)gAc>gGc	p.D54G	ARID4A_ENST00000348476.3_Missense_Mutation_p.D54G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D54G|ARID4A_ENST00000431317.2_Missense_Mutation_p.D54G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	54					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTACAAGATGACCAAGTAAAG	0.279																																						uc001xdp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(160-162)gAc>gGc		Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.							114	115	115					14																	58771705		2203	4298	6501	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58771705A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.161A>G	14.37:g.58771705A>G	ENSP00000347602:p.Asp54Gly					ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Missense_Mutation_p.D54G|ARID4A_uc001xdq.3_Missense_Mutation_p.D54G	p.D54G	NM_002892	NP_002883	P29374	ARI4A_HUMAN			3	415	+			54					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.161A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083489	0.94050	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000424658;ENST00000431317	T;T;T;T	0.18016	2.25;2.24;2.26;2.24	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.983;0.995	D;D;D	0.91635	0.999;0.943;0.946	T	0.34403	-0.9830	10	0.87932	D	0	-24.3384	16.4416	0.83903	1.0:0.0:0.0:0.0	.	54;54;54	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	54;54;54;17;54;54	ENSP00000347602:D54G;ENSP00000344556:D54G;ENSP00000378597:D54G;ENSP00000397368:D54G	ENSP00000344556:D54G	D	+	2	0	ARID4A	57841458	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.737000	0.91562	2.285000	0.76669	0.477000	0.44152	GAC		0.279	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		G	58771705	A	G	58771705	3	3	274	1	0	0	0	0	1	0	0	0	919	275	10	4	171	4	ARID4A	14	58771705	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08		58771705	48577835	78	19621											
SYNE2	23224	broad.mit.edu	37	chr14	64450574	64450574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaacagatatgtcagtagaActtcctgaaaattataatca	17	12	5	7	0	3	3	3	1	0	2	4	3	4	3	1	0	2	1	1	0	8	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:64450574A>G	ENST00000344113.4	+	18	2333	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	SYNE2_ENST00000358025.3_Silent_p.E707E|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.E707E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	707					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCAGTAGAACTTCCTGAAA	0.259																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2119-2121)gaA>gaG		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							24	23	23					14																	64450574		1778	4047	5825	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64450574A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2121A>G	14.37:g.64450574A>G						SYNE2_uc001xgm.3_Silent_p.E707E|SYNE2_uc021ruh.1_Silent_p.E707E	p.E707E	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	17	2351	+			707					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2121A>G	CCDS41963.1																																																																																				0.259	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64450574	A	G	64450574	2	3	274	1	0	0	0	0	0	0	0	1	15443	40	2	4		4	SYNE2	14	64450574	Silent	SNP	A	TCGA-76-6656-01A-11D-1845-08	5678869	64450574	42898966	79	19622											
ATP10A	57194	broad.mit.edu	37	chr15	26026298	26026298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtccgcagggaagatttcGttgcagcgaagacgcacaaa	13	7	12	9	4	0	2	0	0	0	2	2	4	1	3	1	1	2	4	1	1	3	2	rs145190957		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:26026298G>A	ENST00000356865.6	-	2	633	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	174					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498													G|||	1	0.000199681	0	0.0014	5008	,	,		17697	0		0	False		,,,				2504	0					uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(520-522)aaC>aaT		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.		G		0,4406		0,0,2203	111	109	110		522	-9.3	0.3	15	dbSNP_134	110	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ATP10A	NM_024490.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		174/1500	26026298	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026298G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.522C>T	15.37:g.26026298G>A							p.N174N	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	1	628	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	174					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.522C>T	CCDS32178.1																																																																																				0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	26026298	G	A	26026298	2	1	274	1	0	0	0	0	0	0	0	1	1116	1136	40	1		1	ATP10A	15	26026298	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		26026298	76505094	80	19623											
SPINT1	6692	broad.mit.edu	37	chr15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctggggctcaggCgactttcccccagggtgagt	6	8	15	12	1	2	1	1	1	1	0	3	2	3	1	2	5	1	3	2	5	0	1	rs145193299		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000562057.1_Intron|SPINT1_ENST00000431806.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0	0	5008	,	,		14296	0		0	False		,,,				2504	0.001					uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(946-948)gCg>gTg		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88	99	96		,,947	-2.4	0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		T	41146113	C	T	41146113	3	4	274	1	0	0	0	0	1	0	0	0	15067	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	15119815	41146113	61385279	81	19624											
GABPB1	2553	broad.mit.edu	37	chr15	50593063	50593063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctaatactgatgtagaaGagtttccaaactgaacagca	16	10	8	7	0	0	4	0	2	0	2	1	4	1	4	1	0	5	4	1	0	7	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:50593063G>T	ENST00000220429.8	-	6	824	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	GABPB1_ENST00000560825.1_Missense_Mutation_p.S207Y|GABPB1_ENST00000359031.4_Missense_Mutation_p.S207Y|GABPB1_ENST00000429662.2_Missense_Mutation_p.S219Y|GABPB1_ENST00000396464.3_Missense_Mutation_p.S207Y|GABPB1_ENST00000543881.1_Missense_Mutation_p.S143Y|GABPB1_ENST00000380877.3_Missense_Mutation_p.S207Y			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	219					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGATGTAGAAGAGTTTCCAAA	0.363																																						uc001zyb.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(655-657)tCt>tAt		Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.							99	95	97					15																	50593063		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50593063G>T	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.656C>A	15.37:g.50593063G>T	ENSP00000220429:p.Ser219Tyr					GABPB1_uc001zya.3_Missense_Mutation_p.S207Y|GABPB1_uc010ufg.2_Missense_Mutation_p.S143Y|GABPB1_uc001zyd.3_Missense_Mutation_p.S207Y|GABPB1_uc001zye.3_Missense_Mutation_p.S219Y|GABPB1_uc001zyf.3_Missense_Mutation_p.S207Y|GABPB1_uc001zyc.3_Missense_Mutation_p.S207Y	p.S219Y	NM_005254	NP_005245	Q06547	GABP1_HUMAN			5	1080	-			219					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.656C>A	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232130	0.79688	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.68903	0.62;-0.36;-0.36;-0.36	5.7	5.7	0.88788	.	0.081744	0.53938	D	0.000058	T	0.75019	0.3793	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D;D	0.61697	0.99;0.981;0.984;0.99;0.984	D;P;D;D;D	0.74348	0.974;0.645;0.983;0.974;0.983	T	0.71676	-0.4521	10	0.33940	T	0.23	-4.6725	19.9207	0.97085	0.0:0.0:1.0:0.0	.	219;219;207;219;207	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	Y	207;219;143;207;219;207	ENSP00000442500:S143Y;ENSP00000379728:S207Y;ENSP00000395771:S219Y;ENSP00000351923:S207Y	ENSP00000220429:S207Y	S	-	2	0	GABPB1	48380355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.573000	0.82421	2.708000	0.92522	0.644000	0.83932	TCT		0.363	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			T	50593063	G	T	50593063	3	4	274	1	0	0	0	0	1	0	0	0	6158	942	33	5	595	5	GABPB1	15	50593063	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	9446950	50593063	51938329	82	19625											
USP7	7874	broad.mit.edu	37	chr16	8998407	8998407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatcatggtcggtgaccGcctgtaaaacttcacctgca	11	10	9	11	2	2	1	2	1	0	0	3	2	2	1	3	2	2	2	3	2	4	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:8998407G>A	ENST00000344836.4	-	15	1787	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	USP7_ENST00000535863.1_Missense_Mutation_p.A431V|USP7_ENST00000381886.4_Missense_Mutation_p.A514V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	530					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A530V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTCGGTGACCGCCTGTAAAAC	0.502																																						uc002czl.2																			1	Substitution - Missense(1)	p.A530V(2)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1588-1590)gCg>gTg		Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.							94	82	86					16																	8998407		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8998407G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1589C>T	16.37:g.8998407G>A	ENSP00000343535:p.Ala530Val					USP7_uc010uyk.1_Missense_Mutation_p.A431V|USP7_uc010uyj.1_Missense_Mutation_p.A431V|USP7_uc002czk.2_Missense_Mutation_p.A514V|USP7_uc010uyl.1_Intron	p.A530V	NM_003470	NP_003461	Q93009	UBP7_HUMAN			14	1788	-			530					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1589C>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698401	0.68386	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.05786	3.39;3.39	5.2	5.2	0.72013	.	0.100266	0.64402	D	0.000002	T	0.05686	0.0149	N	0.14661	0.345	0.48830	D	0.999716	B;B	0.18310	0.015;0.027	B;B	0.09377	0.004;0.003	T	0.44574	-0.9319	10	0.39692	T	0.17	.	18.7258	0.91713	0.0:0.0:1.0:0.0	.	530;514	Q93009;B7Z815	UBP7_HUMAN;.	V	530;538;431;431	ENSP00000343535:A530V;ENSP00000443646:A431V	ENSP00000343535:A530V	A	-	2	0	USP7	8905908	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.949000	0.87791	2.423000	0.82170	0.455000	0.32223	GCG		0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			A	8998407	G	A	8998407	3	1	274	1	0	0	0	0	1	0	0	0	17085	1087	38	1	1787	1	USP7	16	8998407	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		8998407	81356346	83	19626											
ERCC4	2072	broad.mit.edu	37	chr16	14029049	14029049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgaacatgttcccagctGagagactatatcactcttgg	11	10	9	11	1	2	2	1	1	1	1	3	5	3	2	2	1	2	2	2	1	3	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:14029049G>A	ENST00000311895.7	+	8	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	420	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1258-1260)ctG>ctA	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.							139	129	132					16																	14029049		2197	4300	6497	SO:0001819	synonymous_variant	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029049G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1260G>A	16.37:g.14029049G>A						ERCC4_uc010uyz.1_5'UTR	p.L420L	NM_005236	NP_005227	Q92889	XPF_HUMAN			7	1269	+			420					A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	c.1260G>A	CCDS32390.1																																																																																				0.403	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14029049	G	A	14029049	2	1	274	1	0	0	0	0	0	0	0	1	5215	1277	45	3		3	ERCC4	16	14029049	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	5030642	14029049	76325704	84	19627											
CNOT1	23019	broad.mit.edu	37	chr16	58587731	58587731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgactgatagaagcCaaatgctgacaatactgggg	16	8	11	6	0	0	4	0	3	0	1	0	4	0	4	1	2	3	1	1	2	7	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:58587731C>T	ENST00000317147.5	-	22	3257	c.2925G>A	c.(2923-2925)ttG>ttA	p.L975L	CNOT1_ENST00000441024.2_Silent_p.L975L|CNOT1_ENST00000569240.1_Silent_p.L970L|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	975	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATAGAAGCCAAATGCTGAC	0.368																																						uc002env.3																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2923-2925)ttG>ttA		Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.							127	127	127					16																	58587731		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58587731C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2925G>A	16.37:g.58587731C>T						CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.L970L|CNOT1_uc002enx.3_Silent_p.L975L|CNOT1_uc002enz.1_Silent_p.L404L|CNOT1_uc010vik.2_5'Flank	p.L975L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3218	-			975					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.2925G>A	CCDS10799.1																																																																																				0.368	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58587731	C	T	58587731	2	4	274	1	0	0	0	0	0	0	0	1	3617	593	21	3		3	CNOT1	16	58587731	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	44558682	58587731	31767022	85	19628											
PIK3R5	23533	broad.mit.edu	37	chr17	8791674	8791674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgggctggggcagggagCgggagcgctgggcccgggaa	5	5	23	8	3	0	0	0	0	0	0	0	3	0	3	1	7	2	4	1	7	1	1	rs370964753		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:8791674C>T	ENST00000447110.1	-	10	1554	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	PIK3R5_ENST00000581552.1_Missense_Mutation_p.R477H|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R477H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	477					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCAGGGAGCGGGAGCGCTG	0.721																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1429-1431)cGc>cAc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4388		0,0,2194	15	19	18		1430,1430	-8.4	0.3	17		18	1,8583		0,1,4291	no	missense,missense	PIK3R5	NM_001142633.1,NM_014308.3	29,29	0,1,6485	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	477/881,477/881	8791674	1,12971	2194	4292	6486	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791674C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1430G>A	17.37:g.8791674C>T	ENSP00000392812:p.Arg477His					PIK3R5_uc010vuz.2_Missense_Mutation_p.R477H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R91H|PIK3R5_uc010cob.2_Missense_Mutation_p.R91H|PIK3R5_uc010coa.2_Missense_Mutation_p.R91H|PIK3R5_uc002glu.4_Missense_Mutation_p.R91H	p.R477H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN			9	1497	-			477					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1430G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329924	0.24167	0.0	1.16E-4	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77877	-1.13	5.51	-8.35	0.00984	.	0.530234	0.21365	N	0.075722	T	0.46889	0.1416	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.28713	-1.0035	10	0.35671	T	0.21	-6.3625	7.0384	0.25006	0.614:0.1112:0.0:0.2748	.	477	Q8WYR1	PI3R5_HUMAN	H	477	ENSP00000392812:R477H	ENSP00000269300:R477H	R	-	2	0	PIK3R5	8732399	0.011000	0.17503	0.311000	0.25182	0.585000	0.36419	-0.386000	0.07370	-0.937000	0.03719	-1.051000	0.02340	CGC		0.721	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		T	8791674	C	T	8791674	3	4	274	1	0	0	0	0	1	0	0	0	11922	768	27	1	1252	1	PIK3R5	17	8791674	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		8791674	72403536	86	19629											
MYH13	8735	broad.mit.edu	37	chr17	10215249	10215249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagatttttgttctctcGcctcagtgtctctaactggt	5	18	8	10	1	3	1	1	0	2	1	6	1	3	1	1	1	2	2	1	1	1	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:10215249G>A	ENST00000418404.3	-	31	4673	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.R1504*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1504					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTCTCTCGCCTCAGTGTC	0.542																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4510-4512)Cga>Tga		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							95	100	99					17																	10215249		2109	4215	6324	SO:0001587	stop_gained	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10215249G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4510C>T	17.37:g.10215249G>A	ENSP00000404570:p.Arg1504*						p.R1504*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			31	4600	-			1504					O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	c.4510C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	44	11.071621	0.99511	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.45	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5584	0.56267	0.0:0.0:0.7311:0.2689	.	.	.	.	X	1504	.	ENSP00000252172:R1504X	R	-	1	2	MYH13	10155974	0.168000	0.22989	0.967000	0.41034	0.909000	0.53808	0.711000	0.25764	2.465000	0.83290	0.655000	0.94253	CGA		0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10215249	G	A	10215249	4	1	274	1	0	0	0	0	0	1	0	0	10032	1095	38	1	1346	1	MYH13	17	10215249	Nonsense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	1423575	10215249	70979961	87	19630											
KRT35	3886	broad.mit.edu	37	chr17	39637207	39637207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactgagcaggcagagaaaCttctggccacaggggagaga	13	4	14	10	0	1	3	0	1	1	2	1	6	1	4	2	4	2	2	2	4	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:39637207C>A	ENST00000393989.1	-	1	185	c.143G>T	c.(142-144)aGt>aTt	p.S48I	KRT35_ENST00000246639.2_Missense_Mutation_p.S18I	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	48	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGAGAAACTTCTGGCCAC	0.622																																						uc002hws.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(142-144)aGt>aTt		Homo sapiens keratin 35 (KRT35), mRNA.							41	49	46					17																	39637207		2066	4224	6290	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637207C>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.143G>T	17.37:g.39637207C>A	ENSP00000377558:p.Ser48Ile						p.S48I	NM_002280	NP_002271	Q92764	KRT35_HUMAN			0	186	-		Breast(137;0.000286)	48			Head.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.143G>T	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657649	0.14645	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;T	0.81996	-1.56;-1.49	5.17	2.0	0.26442	.	0.320608	0.26951	N	0.021673	T	0.74160	0.3680	L	0.52573	1.65	0.09310	N	1	P	0.41597	0.756	B	0.38106	0.265	T	0.65274	-0.6208	10	0.51188	T	0.08	.	6.2119	0.20633	0.1383:0.6555:0.1333:0.073	.	48	Q92764	KRT35_HUMAN	I	18;48	ENSP00000246639:S18I;ENSP00000377558:S48I	ENSP00000246639:S18I	S	-	2	0	KRT35	36890733	0.001000	0.12720	0.013000	0.15412	0.169000	0.22640	1.212000	0.32394	0.308000	0.22923	-0.448000	0.05591	AGT		0.622	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		A	39637207	C	A	39637207	3	1	274	1	0	0	0	0	1	0	0	0	8472	565	20	5	1252	5	KRT35	17	39637207	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	29421958	39637207	41558003	88	19631											
CYTH1	9267	broad.mit.edu	37	chr17	76705733	76705733	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgccactctcctaccTgaatgtcagccagcagctcc	9	8	6	18	0	2	1	1	1	1	0	4	1	3	1	6	0	5	2	6	0	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:76705733T>C	ENST00000446868.3	-	2	174	c.104A>G	c.(103-105)cAg>cGg	p.Q35R	CYTH1_ENST00000589297.1_5'UTR|CYTH1_ENST00000591455.1_Splice_Site_p.Q35R|CYTH1_ENST00000585509.1_5'UTR|CYTH1_ENST00000361101.4_Splice_Site_p.Q35R|CYTH1_ENST00000589296.1_Splice_Site_p.Q35R			Q15438	CYH1_HUMAN	cytohesin 1	35					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTCTCCTACCTGAATGTCAGC	0.498																																						uc021ueg.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.e2+1		Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.							191	152	165					17																	76705733		2203	4300	6503	SO:0001630	splice_region_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76705733T>C	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.105+1A>G	17.37:g.76705733T>C						CYTH1_uc002jvw.3_Splice_Site_p.Q35_splice|CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	p.Q35_splice	NM_004762	NP_004753	Q15438	CYH1_HUMAN			2	176	-			35					A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.105_splice		.	.	.	.	.	.	.	.	.	.	T	16.67	3.188994	0.57909	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000392457;ENST00000262763;ENST00000434577;ENST00000416418	T;T	0.13901	2.55;2.55	5.56	4.49	0.54785	.	0.050712	0.85682	N	0.000000	T	0.22898	0.0553	M	0.86028	2.79	0.80722	D	1	B	0.12013	0.005	B	0.25291	0.059	T	0.02232	-1.1191	10	0.49607	T	0.09	.	11.093	0.48128	0.0:0.0721:0.0:0.9279	.	35	Q15438-2	.	R	35;35;35;35;46;37	ENSP00000389095:Q35R;ENSP00000354398:Q35R	ENSP00000262763:Q35R	Q	-	2	0	CYTH1	74217328	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.610000	0.67668	0.950000	0.37743	0.533000	0.62120	CAG		0.498	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	Missense_Mutation	C	76705733	T	C	76705733	5	2	274	1	0	0	0	0	0	0	1	0	4203	1594	55	4	1140	4	CYTH1	17	76705733	Splice_Site	SNP	T	TCGA-76-6656-01A-11D-1845-08	37068526	76705733	4489477	89	19632											
ZNF556	80032	broad.mit.edu	37	chr19	2878077	2878077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtctataaatgtgaaaCgtgtgggaaaacgtatggtt	15	11	12	3	2	1	1	0	1	1	0	1	3	1	2	0	2	2	2	0	2	8	4	rs139830711		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:2878077C>T	ENST00000307635.2	+	4	1208	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	ZNF556_ENST00000586426.1_Missense_Mutation_p.T373M	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATGTGAAACGTGTGGGAAA	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		19088	0		0	False		,,,				2504	0					uc002lwp.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(1120-1122)aCg>aTg		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		C	MET/THR	8,4398	14.3+/-33.2	0,8,2195	79	73	75		1121	-1.6	0	19	dbSNP_134	75	0,8600		0,0,4300	yes	missense	ZNF556	NM_024967.1	81	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	374/457	2878077	8,12998	2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878077C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1121C>T	19.37:g.2878077C>T	ENSP00000302603:p.Thr374Met					ZNF556_uc002lwq.3_Missense_Mutation_p.T373M	p.T374M	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1208	+			374					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.1121C>T	CCDS12097.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.669	0.124362	0.08931	0.001816	0.0	ENSG00000172000	ENST00000307635	T	0.51574	0.7	2.3	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	N	0.26130	0.795	0.09310	N	1	P	0.45283	0.855	B	0.35770	0.21	T	0.10543	-1.0625	9	0.62326	D	0.03	.	4.4592	0.11657	0.4267:0.3871:0.0:0.1862	.	374	Q9HAH1	ZN556_HUMAN	M	374	ENSP00000302603:T374M	ENSP00000302603:T374M	T	+	2	0	ZNF556	2829077	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.527000	0.06200	-1.016000	0.03371	-2.187000	0.00313	ACG		0.483	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		T	2878077	C	T	2878077	3	4	274	1	0	0	0	0	1	0	0	0	17984	536	19	1	1135	1	ZNF556	19	2878077	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		2878077	56250906	90	19633											
C19orf28	126321	broad.mit.edu	37	chr19	3557226	3557226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccagcagcagcagcagcCccgcgccgcgggagctgtag	7	2	16	16	4	0	0	0	0	0	0	0	1	0	1	4	2	6	6	4	2	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3557226C>T	ENST00000355415.2	-	1	345	c.176G>A	c.(175-177)gGg>gAg	p.G59E	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000389395.3_Missense_Mutation_p.G59E|MFSD12_ENST00000398558.4_Missense_Mutation_p.G59E|AC005786.5_ENST00000592368.1_lincRNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	59					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAGCAGCAGCCCCGCGCCGCG	0.726																																						uc002lxw.3																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(175-177)gGg>gAg		Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.							11	15	13					19																	3557226		2035	4169	6204	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3557226C>T	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.176G>A	19.37:g.3557226C>T	ENSP00000347583:p.Gly59Glu					MFSD12_uc002lxx.3_Missense_Mutation_p.G59E|MFSD12_uc002lxy.3_Missense_Mutation_p.G59E|MFSD12_uc002lxz.3_Missense_Mutation_p.G59E	p.G59E	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN			0	346	-			59					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.176G>A	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844236	0.91197	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.85861	-2.04;-2.04;-2.04	3.75	3.75	0.43078	Major facilitator superfamily domain, general substrate transporter (1);	0.063724	0.64402	D	0.000006	D	0.93006	0.7774	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94471	0.7685	10	0.87932	D	0	-23.7044	15.0325	0.71720	0.0:1.0:0.0:0.0	.	59;59;59	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	E	59	ENSP00000374046:G59E;ENSP00000381566:G59E;ENSP00000347583:G59E	ENSP00000347583:G59E	G	-	2	0	C19orf28	3508226	0.999000	0.42202	0.988000	0.46212	0.603000	0.37013	4.407000	0.59754	2.076000	0.62316	0.561000	0.74099	GGG		0.726	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		T	3557226	C	T	3557226	3	4	274	1	0	0	0	0	1	0	0	0	1917	623	22	3	1513	3	C19orf28	19	3557226	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	679149	3557226	55571757	91	19634											
ATCAY	85300	broad.mit.edu	37	chr19	3918804	3918804	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttctctctgtccacagCgcgaggccccagccggagtt	5	9	11	16	4	2	0	0	0	2	0	5	2	3	1	4	2	2	2	4	2	0	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3918804C>T	ENST00000450849.2	+	11	1469	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	ATCAY_ENST00000398448.3_Splice_Site_p.S340S|ATCAY_ENST00000600960.1_Splice_Site_p.S334S|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000301260.6_Splice_Site_p.S334S	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	334	Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTCCACAGCGCGAGGCCCC	0.612																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.e12-1		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.							54	58	56					19																	3918804		2018	4183	6201	SO:0001630	splice_region_variant	85300				transport		protein binding	g.chr19:3918804C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.1002-1C>T	19.37:g.3918804C>T						ATCAY_uc002lyy.4_Splice_Site_p.S334_splice|ATCAY_uc010dts.3_Splice_Site_p.S91_splice	p.S340_splice			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1503	+		Hepatocellular(1079;0.137)	334					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.1020_splice	CCDS45923.1																																																																																				0.612	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		Silent	T	3918804	C	T	3918804	5	4	274	1	0	0	0	0	0	0	1	0	1077	782	27	1	1040	1	ATCAY	19	3918804	Splice_Site	SNP	C	TCGA-76-6656-01A-11D-1845-08	361578	3918804	55210179	92	19635											
FUT3	2525	broad.mit.edu	37	chr19	5844141	5844141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgtaccgggacagcGtctccatcatggtccccttg	8	10	10	13	2	2	1	1	0	1	1	4	2	3	2	4	2	3	1	4	2	2	3	rs377154201		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:5844141G>A	ENST00000303225.6	-	3	1344	c.710C>T	c.(709-711)aCg>aTg	p.T237M	FUT3_ENST00000589918.1_Missense_Mutation_p.T237M|FUT3_ENST00000458379.2_Missense_Mutation_p.T237M|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.T237M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	237					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.T237M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGGACAGCGTCTCCATCAT	0.622													G|||	1	0.000199681	0	0	5008	,	,		18471	0.001		0	False		,,,				2504	0				Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			1	Substitution - Missense(1)	p.T237M(2)	breast(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(709-711)aCg>aTg		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	120	114	116		710,710,710,710	-4.6	0	19		116	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	81,81,81,81	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	237/362,237/362,237/362,237/362	5844141	2,12998	2201	4299	6500	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844141G>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.710C>T	19.37:g.5844141G>A	ENSP00000305603:p.Thr237Met					FUT3_uc002mdm.2_Missense_Mutation_p.T237M|FUT3_uc002mdj.2_Missense_Mutation_p.T237M|FUT3_uc002mdl.2_Missense_Mutation_p.T237M|FUT3_uc021unn.1_Missense_Mutation_p.T237M	p.T237M	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	807	-			237					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.710C>T	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	8.055	0.766854	0.15983	2.27E-4	1.16E-4	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.26810	1.71;1.71	2.29	-4.57	0.03421	.	7.518050	0.00644	N	0.000532	T	0.36413	0.0966	L	0.54863	1.705	0.09310	N	1	D;P;P;P	0.63880	0.993;0.897;0.949;0.897	D;P;P;P	0.65140	0.932;0.7;0.763;0.7	T	0.46176	-0.9210	10	0.33940	T	0.23	.	1.9618	0.03387	0.146:0.1856:0.4806:0.1878	.	237;237;237;237	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	237	ENSP00000305603:T237M;ENSP00000416443:T237M	ENSP00000305603:T237M	T	-	2	0	FUT3	5795141	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.329000	0.00510	-0.871000	0.04042	0.194000	0.17425	ACG		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5844141	G	A	5844141	3	1	274	1	0	0	0	0	1	0	0	0	6105	1145	40	1	379	1	FUT3	19	5844141	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	1925337	5844141	53284842	93	19636											
TNFSF14	8740	broad.mit.edu	37	chr19	6669943	6669943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggccagcccggcccccatCagcaacagcaagagacccag	12	1	10	18	2	1	1	1	0	0	1	1	2	1	1	5	2	4	2	5	2	2	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:6669943C>T	ENST00000599359.1	-	2	519	c.138G>A	c.(136-138)ctG>ctA	p.L46L	TNFSF14_ENST00000245912.3_Intron|TNFSF14_ENST00000326176.9_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	46					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCCCCATCAGCAACAGCA	0.662																																						uc002mfk.2																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(136-138)ctG>ctA		Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.							99	92	95					19																	6669943		2203	4300	6503	SO:0001819	synonymous_variant	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6669943C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.138G>A	19.37:g.6669943C>T						TNFSF14_uc002mfj.2_Intron	p.L46L	NM_003807	NP_003798	O43557	TNF14_HUMAN			1	520	-			46					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.138G>A	CCDS12171.1																																																																																				0.662	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			T	6669943	C	T	6669943	2	4	274	1	0	0	0	0	0	0	0	1	16304	813	29	3		3	TNFSF14	19	6669943	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	825802	6669943	52459040	94	19637											
MUC16	94025	broad.mit.edu	37	chr19	9047128	9047128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagttgtcctgggaacCattgtgttggtctctgcagg	5	14	15	7	0	1	0	0	0	1	0	3	2	2	2	2	4	2	3	2	4	1	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9047128C>G	ENST00000397910.4	-	5	34706	c.34503G>C	c.(34501-34503)atG>atC	p.M11501I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11503	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGGGAACCATTGTGTTGG	0.507																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34501-34503)atG>atC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							171	167	168					19																	9047128		2065	4213	6278	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047128C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34503G>C	19.37:g.9047128C>G	ENSP00000381008:p.Met11501Ile						p.M11501I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34707	-			11503			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34503G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.170	-0.641256	0.03557	.	.	ENSG00000181143	ENST00000397910	T	0.01918	4.56	2.71	-5.42	0.02640	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	B	0.14438	0.01	B	0.13407	0.009	T	0.46679	-0.9174	8	0.87932	D	0	.	2.5558	0.04760	0.1341:0.3506:0.0992:0.4162	.	11501	B5ME49	.	I	11501	ENSP00000381008:M11501I	ENSP00000381008:M11501I	M	-	3	0	MUC16	8908128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.674000	0.00842	-3.593000	0.00135	-0.482000	0.04802	ATG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9047128	C	G	9047128	3	3	274	1	0	0	0	0	1	0	0	0	9973	594	21	5	9340	5	MUC16	19	9047128	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	2377185	9047128	50081855	95	19638											
MUC16	94025	broad.mit.edu	37	chr19	9082859	9082859	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctctctgaggcatatcTagggtcccctgttcctgaag	7	12	10	12	0	2	2	0	2	2	0	5	2	4	2	3	2	1	3	3	2	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9082859T>A	ENST00000397910.4	-	1	9159	c.8956A>T	c.(8956-8958)Aga>Tga	p.R2986*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2987	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGCATATCTAGGGTCCCCT	0.498																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8956-8958)Aga>Tga		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							120	121	120					19																	9082859		2079	4236	6315	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082859T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8956A>T	19.37:g.9082859T>A	ENSP00000381008:p.Arg2986*						p.R2986*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	9160	-			2987			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.8956A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	50	16.667384	0.99869	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.733	0.733	0.18289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7771	0.08665	0.0:0.0:0.0:1.0	.	.	.	.	X	2986	.	ENSP00000381008:R2986X	R	-	1	2	MUC16	8943859	0.001000	0.12720	0.001000	0.08648	0.081000	0.17604	-0.063000	0.11655	0.565000	0.29255	0.254000	0.18369	AGA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9082859	T	A	9082859	4	1	274	1	0	0	0	0	0	1	0	0	9973	1530	53	5	34903	5	MUC16	19	9082859	Nonsense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	35731	9082859	50046124	96	19639											
NOTCH3	4854	broad.mit.edu	37	chr19	15289676	15289676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcccacccccaggaccCgggctaggacggcactggcc	7	3	13	18	2	1	0	1	0	0	0	1	2	1	2	5	5	1	2	5	5	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:15289676C>T	ENST00000263388.2	-	23	3870	c.3795G>A	c.(3793-3795)ccG>ccA	p.P1265P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1265	EGF-like 32. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGGACCCGGGCTAGGAC	0.647																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(3793-3795)ccG>ccA		Homo sapiens notch 3 (NOTCH3), mRNA.							35	32	33					19																	15289676		2198	4298	6496	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15289676C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3795G>A	19.37:g.15289676C>T						NOTCH3_uc002nao.1_Silent_p.P1213P	p.P1265P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		22	3871	-			1265			EGF-like 32.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.3795G>A	CCDS12326.1																																																																																				0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15289676	C	T	15289676	2	4	274	1	0	0	0	0	0	0	0	1	10550	639	23	2		2	NOTCH3	19	15289676	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	6206817	15289676	43839307	97	19640											
IL12RB1	3594	broad.mit.edu	37	chr19	18180414	18180414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtggcaaggcccccGtcctggcccacaggctgcca	6	5	13	17	1	0	0	0	0	0	0	1	0	1	0	5	5	2	3	5	5	1	0	rs371543581		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:18180414G>A	ENST00000600835.2	-	11	1429	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	IL12RB1_ENST00000593993.2_Silent_p.D377D			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	377	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAGGCCCCCGTCCTGGCCCA	0.627																																						uc002nhx.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1249-1251)gaC>gaT		Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.		G		0,4042		0,0,2021	57	63	61		1131	-8.4	0	19		61	2,8348		0,2,4173	no	coding-synonymous	IL12RB1	NM_005535.1		0,2,6194	AA,AG,GG		0.024,0.0,0.0161		377/663	18180414	2,12390	2021	4175	6196	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18180414G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1131C>T	19.37:g.18180414G>A						IL12RB1_uc002nhw.1_Silent_p.D377D|IL12RB1_uc010xqb.1_Silent_p.D377D	p.D417D	NM_005535	NP_005526	P42701	I12R1_HUMAN			10	1302	-			377			Fibronectin type-III 4.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1251C>T	CCDS54232.1																																																																																				0.627	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18180414	G	A	18180414	2	1	274	1	0	0	0	0	0	0	0	1	7626	1136	40	1		1	IL12RB1	19	18180414	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	2890738	18180414	40948569	98	19641											
ZNF91	7644	broad.mit.edu	37	chr19	23544856	23544856	+	Frame_Shift_Del	DEL	G	G	-																															aattctcttatgtttagcaaGggttgaagaatggctaaaag																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:23544856delG	ENST00000300619.7	-	4	1130	c.925delC	c.(925-927)cttfs	p.L309fs	ZNF91_ENST00000397082.2_Frame_Shift_Del_p.L277fs|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	309					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTTAGCAAGGGTTGAAGAA	0.403																																						uc002nre.3																			0											c.(925-927)cttfs		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							74	78	76					19																	23544856		2162	4283	6445	SO:0001589	frameshift_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544856delG	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.925delC	19.37:g.23544856delG	ENSP00000300619:p.Leu309fs					ZNF91_uc010xrj.2_Frame_Shift_Del_p.L277fs	p.L309fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	1038	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	309					A8K5E1|B7Z6G6	Frame_Shift_Del	DEL	ENST00000300619.7	37	c.925delC	CCDS42541.1																																																																																				0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		-	23544856	G	-	23544856	7	5	274	1	0	1	0	1	0	0	0	0	18197	1000	35	0	2654	0	ZNF91	19	23544856	Frame_Shift_Del	DEL	G	TCGA-76-6656-01A-11D-1845-08	5364442	23544856	35584127	99	19642											
GPATCH1	55094	broad.mit.edu	37	chr19	33604693	33604693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactttagttggcttacCaagagtgaagcgtgacaagt	12	12	10	7	1	1	3	1	2	0	1	1	3	1	3	1	1	3	2	1	1	6	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33604693C>T	ENST00000170564.2	+	14	2227	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	638					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTTGGCTTACCAAGAGTGAAG	0.418																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1912-1914)cCa>cTa		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.							87	81	83					19																	33604693		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33604693C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1913C>T	19.37:g.33604693C>T	ENSP00000170564:p.Pro638Leu					GPATCH1_uc002nuh.1_Missense_Mutation_p.P15L	p.P638L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			13	2227	+	Esophageal squamous(110;0.137)		638					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1913C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071061	0.93950	.	.	ENSG00000076650	ENST00000170564	T	0.49139	0.79	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	T	0.74548	-0.3629	10	0.72032	D	0.01	-14.7409	19.1775	0.93609	0.0:1.0:0.0:0.0	.	638;638	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	L	638	ENSP00000170564:P638L	ENSP00000170564:P638L	P	+	2	0	GPATCH1	38296533	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.707000	0.74654	2.781000	0.95711	0.591000	0.81541	CCA		0.418	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33604693	C	T	33604693	3	4	274	1	0	0	0	0	1	0	0	0	6590	594	21	3	1967	3	GPATCH1	19	33604693	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	10059837	33604693	25524290	100	19643											
WDR88	126248	broad.mit.edu	37	chr19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-																															tgccagcagatacttcatcgTcatcatcatcatcggaaagg																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33666419_33666421delTCA	ENST00000355868.3	+	11	1436_1438	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	CTD-2540B15.10_ENST00000590117.1_RNA|WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527																																						uc002nui.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1360-1362)tcadel		Homo sapiens WD repeat domain 88 (WDR88), mRNA.																																				SO:0001651	inframe_deletion	126248							g.chr19:33666419_33666421delTCA	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1360_1362delTCA	19.37:g.33666428_33666430delTCA	ENSP00000348129:p.Ser458del					TRNA_Thr_uc021usc.1_5'Flank	p.S458del	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			10	1438_1440	+	Esophageal squamous(110;0.137)		458			Poly-Ser.		Q8NEF8	In_Frame_Del	DEL	ENST00000355868.3	37	c.1360_1362delTCA	CCDS12429.1																																																																																				0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		-	33666421	TCA	-	33666419	7	5	274	1	0	1	0	1	0	0	0	0	17332	1667	58	0	1402	0	WDR88	19	33666419	In_Frame_Del	DEL	TCA	TCGA-76-6656-01A-11D-1845-08	61726	33666419	25462564	101	19644											
CYP2F1	1572	broad.mit.edu	37	chr19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcctgctcctggctctcGtctgtctgctcctgacccta	3	14	7	17	1	3	1	0	1	3	0	7	1	6	1	4	1	3	3	4	1	2	2	rs142026539		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:41622139G>A	ENST00000331105.2	+	2	118	c.46G>A	c.(46-48)Gtc>Atc	p.V16I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	16					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577													A|||	1	0.000199681	8e-04	0	5008	,	,		21088	0		0	False		,,,				2504	0					uc002opu.1																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(46-48)Gtc>Atc		Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.		G	ILE/VAL	3,4403	825.9+/-416.6	0,3,2200	156	137	143		46	-5	0	19	dbSNP_134	143	0,8600		0,0,4300	no	missense	CYP2F1	NM_000774.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	16/492	41622139	3,13003	2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622139G>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.46G>A	19.37:g.41622139G>A	ENSP00000333534:p.Val16Ile					CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_Non-coding_Transcript	p.V16I	NM_000774	NP_000765	P24903	CP2F1_HUMAN			1	102	+			16					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.46G>A	CCDS12572.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	7.045	0.563338	0.13498	6.81E-4	0.0	ENSG00000197446	ENST00000331105	T	0.69306	-0.39	3.86	-4.96	0.03038	.	0.885835	0.09672	N	0.770918	T	0.40473	0.1118	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30031	-0.9992	10	0.17369	T	0.5	.	12.6042	0.56514	0.8311:0.0:0.1689:0.0	.	16;16	Q32MN5;P24903	.;CP2F1_HUMAN	I	16	ENSP00000333534:V16I	ENSP00000333534:V16I	V	+	1	0	CYP2F1	46313979	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-4.618000	0.00207	-0.794000	0.04468	-0.279000	0.10071	GTC		0.577	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41622139	G	A	41622139	3	1	274	1	0	0	0	0	1	0	0	0	4171	1145	40	1	48	1	CYP2F1	19	41622139	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	7955720	41622139	17506844	102	19645											
NLRP8	126205	broad.mit.edu	37	chr19	56477731	56477731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatccccccggtgccGtctgcagtgtctcaggtgag	5	9	14	13	2	2	2	1	2	2	1	4	3	3	2	4	2	2	2	4	2	0	0	rs142437909	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:56477731G>A	ENST00000291971.3	+	5	2437	c.2366G>A	c.(2365-2367)cGt>cAt	p.R789H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R789H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	789					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCCGGTGCCGTCTGCAGTGT	0.547													G|||	8	0.00159744	0.0015	0.0086	5008	,	,		17410	0		0	False		,,,				2504	0					uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2365-2367)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		G	HIS/ARG	0,4406		0,0,2203	76	76	76		2366	-3.4	0	19	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	789/1049	56477731	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56477731G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2366G>A	19.37:g.56477731G>A	ENSP00000291971:p.Arg789His					NLRP8_uc010etg.3_Missense_Mutation_p.R789H	p.R789H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2437	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	789					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2366G>A	CCDS12937.1	6	0.0027472527472527475	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	0	0.0	G	0.048	-1.258646	0.01445	0.0	1.16E-4	ENSG00000179709	ENST00000291971	T	0.52983	0.64	1.71	-3.42	0.04825	.	.	.	.	.	T	0.12603	0.0306	N	0.11870	0.19	0.09310	N	1	B;B	0.29552	0.248;0.0	B;B	0.18561	0.022;0.0	T	0.14337	-1.0476	9	0.15066	T	0.55	.	0.4502	0.00500	0.4053:0.1759:0.224:0.1948	.	789;789	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	789	ENSP00000291971:R789H	ENSP00000291971:R789H	R	+	2	0	NLRP8	61169543	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.940000	0.01543	-1.808000	0.01234	-0.232000	0.12228	CGT		0.547	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56477731	G	A	56477731	3	1	274	1	0	0	0	0	1	0	0	0	10483	1145	40	1	2384	1	NLRP8	19	56477731	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	14855592	56477731	2651252	103	19646											
R3HDML	140902	broad.mit.edu	37	chr20	42965819	42965819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctgctgcccagcaccGtgggcctggcaggcctgctc	3	7	13	18	1	0	0	0	0	0	0	1	0	0	0	6	3	5	4	6	3	0	0	rs375615013		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:42965819G>A	ENST00000217043.2	+	1	194	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	8						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCAGCACCGTGGGCCTGGC	0.647																																						uc002xls.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(22-24)Gtg>Atg		Homo sapiens R3H domain containing-like (R3HDML), mRNA.		G	MET/VAL	1,4393		0,1,2196	40	40	40		22	0.6	0.8	20		40	0,8590		0,0,4295	no	missense	R3HDML	NM_178491.2	21	0,1,6491	AA,AG,GG		0.0,0.0228,0.0077	benign	8/254	42965819	1,12983	2197	4295	6492	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42965819G>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.22G>A	20.37:g.42965819G>A	ENSP00000217043:p.Val8Met						p.V8M	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		0	194	+		Myeloproliferative disorder(115;0.028)	8						Missense_Mutation	SNP	ENST00000217043.2	37	c.22G>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	5.894	0.348968	0.11182	2.28E-4	0.0	ENSG00000101074	ENST00000217043	T	0.08008	3.14	5.18	0.643	0.17770	.	0.702414	0.13657	N	0.371852	T	0.03651	0.0104	N	0.16478	0.41	0.09310	N	0.999997	B	0.27013	0.166	B	0.14023	0.01	T	0.39921	-0.9590	10	0.40728	T	0.16	.	0.1901	0.00133	0.2825:0.1993:0.279:0.2392	.	8	Q9H3Y0	CRSPL_HUMAN	M	8	ENSP00000217043:V8M	ENSP00000217043:V8M	V	+	1	0	R3HDML	42399233	0.000000	0.05858	0.753000	0.31225	0.246000	0.25737	-0.473000	0.06615	0.175000	0.19841	-0.532000	0.04303	GTG		0.647	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		A	42965819	G	A	42965819	3	1	274	1	0	0	0	0	1	0	0	0	12889	1145	40	1	24	1	R3HDML	20	42965819	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		42965819	20059701	104	19647											
SLC17A9	63910	broad.mit.edu	37	chr20	61595026	61595026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaggagaccttccccgaCgccaaggtgagtcgggggct	7	7	15	12	4	0	2	0	1	0	1	3	5	1	2	4	4	0	1	4	4	1	2	rs199720748	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:61595026C>T	ENST00000370351.4	+	7	947	c.816C>T	c.(814-816)gaC>gaT	p.D272D	SLC17A9_ENST00000370349.3_Silent_p.D266D|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	272					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTTCCCCGACGCCAAGGTGA	0.667													C|||	8	0.00159744	0.0045	0	5008	,	,		17379	0		0	False		,,,				2504	0.002					uc002yea.4																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(814-816)gaC>gaT		Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.		C		16,4152		0,16,2068	34	37	36		816	0.3	0.4	20		36	0,8400		0,0,4200	no	coding-synonymous	SLC17A9	NM_022082.3		0,16,6268	TT,TC,CC		0.0,0.3839,0.1273		272/437	61595026	16,12552	2084	4200	6284	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61595026C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.816C>T	20.37:g.61595026C>T						SLC17A9_uc002ydz.4_Silent_p.D266D|SLC17A9_uc011aap.1_Silent_p.D292D	p.D272D	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			6	1000	+			272					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.816C>T	CCDS42901.1																																																																																				0.667	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		T	61595026	C	T	61595026	2	4	274	1	0	0	0	0	0	0	0	1	14424	535	19	1		1	SLC17A9	20	61595026	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	18629207	61595026	1430494	105	19648											
PWP2	5822	broad.mit.edu	37	chr21	45545899	45545899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgttctaggaattttTgaaccgaagaaaaatgacag	14	13	9	5	1	1	3	0	2	1	1	1	5	1	4	1	1	2	2	1	1	6	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45545899T>C	ENST00000291576.7	+	16	2100	c.1973T>C	c.(1972-1974)tTg>tCg	p.L658S	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	658					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGAATTTTTGAACCGAAGA	0.537																																						uc002zeb.3																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1972-1974)tTg>tCg		Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.							89	88	88					21																	45545899		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45545899T>C		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1973T>C	21.37:g.45545899T>C	ENSP00000291576:p.Leu658Ser						p.L658S	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	15	2063	+			658					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1973T>C	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314380	0.81358	.	.	ENSG00000241945	ENST00000291576	T	0.76186	-1.0	4.55	4.55	0.56014	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	D	0.000001	D	0.88366	0.6417	M	0.92026	3.265	0.49798	D	0.999824	D	0.89917	1.0	D	0.91635	0.999	D	0.91002	0.4843	10	0.87932	D	0	-2.9702	13.8805	0.63680	0.0:0.0:0.0:1.0	.	658	Q15269	PWP2_HUMAN	S	658	ENSP00000291576:L658S	ENSP00000291576:L658S	L	+	2	0	PWP2	44370327	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.537000	0.73847	1.813000	0.52934	0.482000	0.46254	TTG		0.537	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		C	45545899	T	C	45545899	3	2	274	1	0	0	0	0	1	0	0	0	12844	1821	63	4	2035	4	PWP2	21	45545899	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		45545899	2583996	106	19649											
C21orf29	54084	broad.mit.edu	37	chr21	45919792	45919792	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggggaggctgtgcacCgccacgaagccctcgtagcc	7	5	15	14	4	0	0	0	0	0	0	1	2	0	1	4	4	3	3	4	4	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45919792C>T	ENST00000323084.4	-	12	1949	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	628					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGCTGTGCACCGCCACGAAGC	0.706																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1882-1884)gcG>gcA		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.							18	17	17					21																	45919792		2182	4271	6453	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45919792C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1884G>A	21.37:g.45919792C>T						TSPEAR_uc010gpv.1_Silent_p.A560A	p.A628A	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			11	1950	-			628						Silent	SNP	ENST00000323084.4	37	c.1884G>A	CCDS13712.1																																																																																				0.706	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45919792	C	T	45919792	2	4	274	1	0	0	0	0	0	0	0	1	2124	639	23	2		2	C21orf29	21	45919792	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	373893	45919792	2210103	107	19650											
ZNF280B	140883	broad.mit.edu	37	chr22	22843649	22843649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgagctcagcatcttcGtcatctacttgtttggtttc	8	16	8	9	1	4	2	2	1	2	1	6	2	4	2	0	1	3	4	0	1	2	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:22843649G>A	ENST00000406426.1	-	4	817	c.75C>T	c.(73-75)gaC>gaT	p.D25D	ZNF280B_ENST00000360412.2_Silent_p.D25D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCATCTTCGTCATCTACTT	0.378																																						uc002zwc.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(73-75)gaC>gaT		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							153	132	139					22																	22843649		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843649G>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.75C>T	22.37:g.22843649G>A						abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.D25D	p.D25D	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	851	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	25						Silent	SNP	ENST00000406426.1	37	c.75C>T	CCDS13799.1																																																																																				0.378	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		A	22843649	G	A	22843649	2	1	274	1	0	0	0	0	0	0	0	1	17812	1136	40	1		1	ZNF280B	22	22843649	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		22843649	28460917	108	19651											
SCUBE1	80274	broad.mit.edu	37	chr22	43603579	43603579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccgaggcgtacaggcgCccatcgcgcacgatgtcctc	6	8	11	16	6	1	0	0	0	1	0	5	2	2	0	3	2	1	2	3	2	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:43603579C>T	ENST00000360835.4	-	21	2901	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	925					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTACAGGCGCCCATCGCGCA	0.597																																						uc003bdt.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2773-2775)ggG>ggA		Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.							119	115	116					22																	43603579		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43603579C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2775G>A	22.37:g.43603579C>T							p.G925G	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			20	2902	-		all_neural(38;0.0414)|Ovarian(80;0.07)	925					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2775G>A	CCDS14048.1																																																																																				0.597	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		T	43603579	C	T	43603579	2	4	274	1	0	0	0	0	0	0	0	1	13944	726	26	3		3	SCUBE1	22	43603579	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	20759930	43603579	7700987	109	19652											
MOV10L1	54456	broad.mit.edu	37	chr22	50588117	50588117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggaatgcctcattcctctgGggctgatgtcggacatcagt	7	11	12	11	2	3	1	2	1	1	0	5	3	4	3	2	4	1	1	2	4	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:50588117G>A	ENST00000262794.5	+	20	2784	c.2701G>A	c.(2701-2703)Ggg>Agg	p.G901R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G901R|MOV10L1_ENST00000354853.2_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G901R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G881R|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G28R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	901					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATTCCTCTGGGGCTGATGTC	0.562											OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2701-2703)Ggg>Agg		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.							137	103	115					22																	50588117		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50588117G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2701G>A	22.37:g.50588117G>A	ENSP00000262794:p.Gly901Arg		OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	MOV10L1_uc003bjk.4_Missense_Mutation_p.G901R|MOV10L1_uc011arp.2_Missense_Mutation_p.G881R|MOV10L1_uc003bjl.3_Missense_Mutation_p.G28R|MOV10L1_uc003bjm.1_5'UTR	p.G901R	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	19	2784	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	901					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2701G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433529	0.83776	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.79	5.79	0.91817	.	0.136192	0.64402	D	0.000002	D	0.83547	0.5278	N	0.17345	0.48	0.80722	D	1	D;P;D;D	0.89917	1.0;0.846;1.0;0.999	D;P;D;D	0.83275	0.996;0.496;0.996;0.989	D	0.84720	0.0739	10	0.49607	T	0.09	-44.8164	20.031	0.97536	0.0:0.0:1.0:0.0	.	881;28;901;901	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	901;901;901;881;28	ENSP00000438978:G901R;ENSP00000262794:G901R;ENSP00000379199:G901R;ENSP00000438542:G881R;ENSP00000379193:G28R	ENSP00000262794:G901R	G	+	1	0	MOV10L1	48930244	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.526000	0.60566	2.728000	0.93425	0.561000	0.74099	GGG		0.562	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50588117	G	A	50588117	3	1	274	1	0	0	0	0	1	0	0	0	9719	1232	43	3	2832	3	MOV10L1	22	50588117	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	6984538	50588117	716449	110	19653											
KDM6A	7403	broad.mit.edu	37	chrX	44929255	44929255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctctctgccttgttgatGggaaaagccaataacaatgt	12	11	9	9	0	1	1	0	1	1	0	2	2	1	2	2	1	4	2	2	1	5	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:44929255G>A	ENST00000377967.4	+	17	2396	c.2355G>A	c.(2353-2355)atG>atA	p.M785I	KDM6A_ENST00000543216.1_Missense_Mutation_p.M706I|KDM6A_ENST00000382899.4_Missense_Mutation_p.M792I|KDM6A_ENST00000536777.1_Missense_Mutation_p.M740I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	785	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTTGTTGATGGGAAAAGCCA	0.448			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	uc011mkz.2				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2509-2511)atG>atA		Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.							156	111	126					X																	44929255		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929255G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2355G>A	X.37:g.44929255G>A	ENSP00000367203:p.Met785Ile					KDM6A_uc022bvi.1_Missense_Mutation_p.M455I|KDM6A_uc010nhk.2_Missense_Mutation_p.M751I|KDM6A_uc004dge.4_Missense_Mutation_p.M785I|KDM6A_uc011mla.2_Missense_Mutation_p.M740I|KDM6A_uc011mlb.2_Missense_Mutation_p.M792I|KDM6A_uc011mlc.2_Missense_Mutation_p.M489I|KDM6A_uc022bvj.1_Missense_Mutation_p.M706I|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.M424I	p.M837I	NM_021140	NP_066963	O15550	KDM6A_HUMAN			17	2886	+			785					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2511G>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.134|1.134	-0.651637|-0.651637	0.03506|0.03506	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.75154	.|-0.91;-0.91;-0.91;-0.91	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.157212	.|0.64402	.|D	.|0.000002	T|T	0.57784|0.57784	0.2077|0.2077	N|N	0.01109|0.01109	-1.01|-1.01	0.49213|0.49213	D|D	0.999765|0.999765	.|B;P;B;B;B;B	.|0.44281	.|0.0;0.831;0.0;0.0;0.025;0.0	.|B;P;B;B;B;B	.|0.54664	.|0.0;0.758;0.001;0.001;0.014;0.001	T|T	0.62548|0.62548	-0.6831|-0.6831	5|10	.|0.02654	.|T	.|1	0.3259|0.3259	17.9308|17.9308	0.88996|0.88996	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|424;792;740;837;751;785	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	R|I	383;428|482;785;740;792;706	.|ENSP00000367203:M785I;ENSP00000437405:M740I;ENSP00000372355:M792I;ENSP00000443078:M706I	.|ENSP00000334340:M482I	G|M	+|+	1|3	0|0	KDM6A|KDM6A	44814199|44814199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.276000|4.276000	0.58933|0.58933	2.255000|2.255000	0.74692|0.74692	0.600000|0.600000	0.82982|0.82982	GGG|ATG		0.448	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		A	44929255	G	A	44929255	3	1	274	1	0	0	0	0	1	0	0	0	8137	1348	47	3	2421	3	KDM6A	23	44929255	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		44929255	110341305	111	19654											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011554	105011554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctactcaacggacagctacCccttaataacaccctgaaag	14	7	6	14	1	1	1	1	1	0	0	1	2	1	2	3	1	5	2	3	1	6	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:105011554C>T	ENST00000372582.1	+	11	2717	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P654L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	654					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAGCTACCCCTTAATAAC	0.448																																						uc004elz.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1960-1962)cCc>cTc		Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.							129	129	129					X																	105011554		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011554C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1961C>T	X.37:g.105011554C>T	ENSP00000361663:p.Pro654Leu						p.P654L	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			10	2717	+			654					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1961C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997225	0.35226	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04917	3.81;3.81;3.53	5.83	5.83	0.93111	.	0.082390	0.53938	D	0.000059	T	0.10981	0.0268	L	0.61218	1.895	0.80722	D	1	B	0.34103	0.437	B	0.32864	0.154	T	0.02015	-1.1229	10	0.49607	T	0.09	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	654	Q9NP60	IRPL2_HUMAN	L	654;654;259	ENSP00000361663:P654L;ENSP00000344976:P654L;ENSP00000445576:P259L	ENSP00000344976:P654L	P	+	2	0	IL1RAPL2	104898210	1.000000	0.71417	0.060000	0.19600	0.440000	0.31957	5.769000	0.68865	2.441000	0.82636	0.600000	0.82982	CCC		0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		T	105011554	C	T	105011554	3	4	274	1	0	0	0	0	1	0	0	0	7662	623	22	3	1999	3	IL1RAPL2	23	105011554	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	60082299	105011554	50259006	112	19655											
MAGEC2	51438	broad.mit.edu	37	chrX	141290669	141290669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcactcagaaaaggagaCgttgctggacatgacactga	14	8	10	9	1	2	4	2	2	0	2	2	6	2	5	0	2	1	2	0	2	2	2	rs201326446		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:141290669C>T	ENST00000247452.3	-	3	1452	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	369	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAAGGAGACGTTGCTGGAC	0.502										HNSCC(46;0.14)			.|||	1	0.000264901	0	0.0014	3775	,	,		13807	0		0	False		,,,				2504	0					uc022cfj.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(1105-1107)Gtc>Atc		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							128	105	113					X																	141290669		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290669C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1105G>A	X.37:g.141290669C>T	ENSP00000354660:p.Val369Ile	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.V369I	p.V369I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	1105	-	Acute lymphoblastic leukemia(192;6.56e-05)		369					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.1105G>A	CCDS14678.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	0.003	-2.577342	0.00131	.	.	ENSG00000046774	ENST00000247452	T	0.02103	4.45	0.929	-1.86	0.07760	.	.	.	.	.	T	0.01387	0.0045	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49123	-0.8972	9	0.13470	T	0.59	.	2.9891	0.05978	0.3547:0.2503:0.3949:0.0	.	369	Q9UBF1	MAGC2_HUMAN	I	369	ENSP00000354660:V369I	ENSP00000354660:V369I	V	-	1	0	MAGEC2	141118335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.431000	0.06965	-1.543000	0.01723	-1.300000	0.01332	GTC		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		T	141290669	C	T	141290669	3	4	274	1	0	0	0	0	1	0	0	0	9181	536	19	1	20	1	MAGEC2	23	141290669	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	36279115	141290669	13979891	113	19656											
CHD5	26038	broad.mit.edu	37	chr1	6209438	6209438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacacctcacagtaatcCtggtggtctgtctcatagcc	8	11	9	13	0	3	0	2	0	2	0	5	0	4	0	3	3	1	2	3	3	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:6209438C>T	ENST00000262450.3	-	8	1128	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACAGTAATCCTGGTGGTCTG	0.577																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1027-1029)caG>caA		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							121	87	99					1																	6209438		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6209438C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1029G>A	1.37:g.6209438C>T						CHD5_uc001amc.1_5'Flank	p.Q343Q	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	7	1140	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	343					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.1029G>A	CCDS57.1																																																																																				0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6209438	C	T	6209438	2	4	275	1	0	0	0	0	0	0	0	1	3328	680	24	3		3	CHD5	1	6209438	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08		6209438	243041183	1	19657											
MACF1	23499	broad.mit.edu	37	chr1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgagagctggagtcattCttgaggaacctccaagattc	11	9	11	10	1	2	3	1	1	1	2	4	6	3	5	2	2	2	2	2	2	2	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:39763324C>G	ENST00000372915.3	+	20	2490	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000564288.1_Missense_Mutation_p.F796L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000567887.1_Missense_Mutation_p.F833L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	801					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443																																						uc021olt.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2401-2403)ttC>ttG		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							139	134	136					1																	39763324		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39763324C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2403C>G	1.37:g.39763324C>G	ENSP00000362006:p.Phe801Leu					MACF1_uc021ols.1_Missense_Mutation_p.F801L|MACF1_uc001cdc.2_Missense_Mutation_p.F801L|MACF1_uc001cda.1_Missense_Mutation_p.F709L|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	p.F801L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		19	2455	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	801					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2403C>G		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359814	0.61403	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	6.06	4.19	0.49359	.	.	.	.	.	D	0.89935	0.6859	L	0.36672	1.1	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.08055	0.003;0.003	D	0.84913	0.0849	9	0.49607	T	0.09	.	9.4037	0.38449	0.0:0.7837:0.0:0.2163	.	801;766	F8W8Q1;Q9UPN3-3	.;.	L	801;801;801;801;801;759;950;961	ENSP00000439537:F801L;ENSP00000362006:F801L;ENSP00000354573:F801L;ENSP00000313438:F801L;ENSP00000444364:F801L;ENSP00000435070:F759L;ENSP00000437059:F950L	ENSP00000313438:F801L	F	+	3	2	MACF1	39535911	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.643000	0.37217	0.884000	0.36064	0.655000	0.94253	TTC		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39763324	C	G	39763324	3	3	275	1	0	0	0	0	1	0	0	0	9144	912	32	5	2481	5	MACF1	1	39763324	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	33553886	39763324	209487297	2	19658											
MPL	4352	broad.mit.edu	37	chr1	43812465	43812465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgacatccctgtagtgCgcctccccaccccaaacttg	7	9	7	18	1	0	1	0	1	0	0	2	1	2	1	6	0	3	2	6	0	2	2	rs373621350	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:43812465C>T	ENST00000372470.3	+	8	1210	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	MPL_ENST00000413998.2_Missense_Mutation_p.R390C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	390					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CCCTGTAGTGCGCCTCCCCAC	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						c|||	3	0.000599042	0	0	5008	,	,		18538	0		0	False		,,,				2504	0.0031				NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(1168-1170)Cgc>Tgc		Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.		C	CYS/ARG	0,4406		0,0,2203	97	91	93		1168	4.3	1	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPL	NM_005373.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	390/636	43812465	1,13005	2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812465C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1168C>T	1.37:g.43812465C>T	ENSP00000361548:p.Arg390Cys					MPL_uc001civ.3_Missense_Mutation_p.R390C|MPL_uc009vwr.3_Missense_Mutation_p.R383C	p.R390C	NM_005373	NP_005364	P40238	TPOR_HUMAN			7	1213	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	390					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.1168C>T	CCDS483.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.429383	0.43122	0.0	1.16E-4	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.82255	-1.59;-1.59	5.19	4.27	0.50696	Fibronectin, type III (2);	0.322750	0.33572	N	0.004772	T	0.71005	0.3289	N	0.08118	0	0.38992	D	0.959168	P;D;P	0.63046	0.923;0.992;0.947	B;P;B	0.46339	0.328;0.513;0.27	T	0.76844	-0.2809	10	0.62326	D	0.03	-13.2757	11.8954	0.52654	0.0:0.8242:0.1758:0.0	.	383;390;390	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	C	390	ENSP00000361548:R390C;ENSP00000414004:R390C	ENSP00000361546:R390C	R	+	1	0	MPL	43585052	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.485000	0.45250	1.173000	0.42796	-0.474000	0.04947	CGC		0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		T	43812465	C	T	43812465	3	4	275	1	0	0	0	0	1	0	0	0	9730	768	27	1	1198	1	MPL	1	43812465	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	4049141	43812465	205438156	3	19659											
EPS8L3	79574	broad.mit.edu	37	chr1	110293381	110293381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcttatgcgaagtagctgGctccccgtcagggacccaag	8	8	13	12	2	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	4	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:110293381G>A	ENST00000361965.4	-	18	1777	c.1671C>T	c.(1669-1671)agC>agT	p.S557S	EPS8L3_ENST00000369805.3_Silent_p.S558S|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.S527S	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	557						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GAAGTAGCTGGCTCCCCGTCA	0.607																																						uc001dyr.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1669-1671)agC>agT		Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.							66	51	56					1																	110293381		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110293381G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1671C>T	1.37:g.110293381G>A						EPS8L3_uc001dys.2_Silent_p.S527S|EPS8L3_uc001dyq.2_Silent_p.S558S|EPS8L3_uc009wfm.2_Silent_p.S494S	p.S557S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	17	1896	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	557					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1671C>T	CCDS814.1																																																																																				0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		A	110293381	G	A	110293381	2	1	275	1	0	0	0	0	0	0	0	1	5197	1194	42	3		3	EPS8L3	1	110293381	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	66480916	110293381	138957240	4	19660											
IGSF3	3321	broad.mit.edu	37	chr1	117150591	117150591	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactatgatggggatgtTcttgggacgcttgctctcct	6	13	14	8	1	2	1	0	1	2	0	3	5	2	4	1	4	1	3	1	4	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:117150591T>A	ENST00000369486.3	-	5	1960	c.1195A>T	c.(1195-1197)Aac>Tac	p.N399Y	IGSF3_ENST00000369483.1_Missense_Mutation_p.N399Y|IGSF3_ENST00000318837.6_Missense_Mutation_p.N399Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	399					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGGGATGTTCTTGGGACGC	0.517																																						uc001egq.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1195-1197)Aac>Tac		Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.							102	110	107					1																	117150591		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117150591T>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1195A>T	1.37:g.117150591T>A	ENSP00000358498:p.Asn399Tyr					IGSF3_uc001egr.1_Missense_Mutation_p.N399Y|IGSF3_uc001egs.1_Missense_Mutation_p.N72Y	p.N399Y	NM_001542	NP_001533	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	4	1900	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	399					A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1195A>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908307	0.72868	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03358	3.98;3.96;3.96	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.116244	0.64402	D	0.000015	T	0.05090	0.0136	L	0.27053	0.805	0.80722	D	1	P;D;P	0.89917	0.724;1.0;0.604	P;D;B	0.91635	0.573;0.999;0.369	T	0.47114	-0.9142	10	0.54805	T	0.06	-59.7763	12.3628	0.55213	0.0:0.0:0.0:1.0	.	399;399;399	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Y	399	ENSP00000358498:N399Y;ENSP00000358495:N399Y;ENSP00000321184:N399Y	ENSP00000321184:N399Y	N	-	1	0	IGSF3	116952114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.078000	0.62432	0.455000	0.32223	AAC		0.517	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117150591	T	A	117150591	3	1	275	1	0	0	0	0	1	0	0	0	7601	1783	62	5	2481	5	IGSF3	1	117150591	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	6857210	117150591	132100030	5	19661											
LCE1F	353137	broad.mit.edu	37	chr1	152749094	152749094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagccaccacagacggCgtaggtcccaccgccacaga	10	3	11	17	3	0	3	0	1	0	2	1	3	1	3	6	2	1	1	6	2	1	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:152749094C>T	ENST00000334371.2	+	1	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701																																						uc010pdv.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(247-249)Cgt>Tgt		Homo sapiens late cornified envelope 1F (LCE1F), mRNA.							22	26	24					1																	152749094		2203	4298	6501	SO:0001583	missense	353137				keratinization			g.chr1:152749094C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>T	1.37:g.152749094C>T	ENSP00000334187:p.Arg83Cys						p.R83C	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.247C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.163	0.789870	0.16258	.	.	ENSG00000240386	ENST00000334371	T	0.04406	3.63	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.05364	0.0142	M	0.65498	2.005	0.30214	N	0.797467	D	0.69078	0.997	P	0.51016	0.656	T	0.05007	-1.0912	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	C	83	ENSP00000334187:R83C	ENSP00000334187:R83C	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT		0.701	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		T	152749094	C	T	152749094	3	4	275	1	0	0	0	0	1	0	0	0	8664	768	27	1	249	1	LCE1F	1	152749094	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	35598503	152749094	96501527	6	19662											
OR10X1	128367	broad.mit.edu	37	chr1	158549258	158549258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtggatatcttagaggGttacagatggccaggaagcg	12	8	15	6	1	1	2	0	0	1	2	1	4	1	4	1	4	3	2	1	4	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:158549258G>A	ENST00000368150.1	-	1	431	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATCTTAGAGGGTTACAGATGG	0.463																																						uc010pin.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(430-432)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.							73	73	73					1																	158549258		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549258G>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.432C>T	1.37:g.158549258G>A							p.N144N	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			0	432	-	all_hematologic(112;0.0378)		144					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.432C>T	CCDS30900.1																																																																																				0.463	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		A	158549258	G	A	158549258	2	1	275	1	0	0	0	0	0	0	0	1	10922	1252	44	3		3	OR10X1	1	158549258	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	5800164	158549258	90701363	7	19663											
TNFSF18	8995	broad.mit.edu	37	chr1	173010834	173010834	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttcagaagatgccatttgCcattttgagggtaatggtcc	9	13	12	7	0	1	3	1	1	0	2	2	3	2	3	3	3	2	2	3	3	2	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:173010834C>T	ENST00000404377.3	-	3	273	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.W69*|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	91					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGCCATTTGCCATTTTGAGG	0.353																																						uc001giu.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(271-273)tgG>tgA		Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.							114	121	119					1																	173010834		2202	4299	6501	SO:0001587	stop_gained	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010834C>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"Tumor necrosis factor (ligand) superfamily"	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.273G>A	1.37:g.173010834C>T	ENSP00000385470:p.Trp91*						p.W91*	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			2	274	-			91					A9IQG8|O95852|Q6ISV1	Nonsense_Mutation	SNP	ENST00000404377.3	37	c.273G>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711105	0.89112	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0988	15.6019	0.76631	0.0:1.0:0.0:0.0	.	.	.	.	X	91;69	.	ENSP00000239468:W69X	W	-	3	0	TNFSF18	171277457	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.906000	0.39887	2.833000	0.97629	0.655000	0.94253	TGG		0.353	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		T	173010834	C	T	173010834	4	4	275	1	0	0	0	0	0	1	0	0	16306	740	26	3	330	3	TNFSF18	1	173010834	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	14461576	173010834	76239787	8	19664											
RASAL2	9462	broad.mit.edu	37	chr1	178427055	178427055	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctatacgcttgaccggAagccagctttccataaccca	10	9	8	14	2	0	1	0	1	0	0	1	2	1	2	5	1	5	2	5	1	4	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:178427055A>T	ENST00000462775.1	+	12	2330	c.2205A>T	c.(2203-2205)ggA>ggT	p.G735G	RASAL2_ENST00000367649.3_Silent_p.G876G|RASAL2_ENST00000448150.3_Silent_p.G865G	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	735					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTTGACCGGAAGCCAGCTTT	0.572																																						uc001glq.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2626-2628)ggA>ggT		Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.							70	66	67					1																	178427055		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427055A>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2205A>T	1.37:g.178427055A>T						RASAL2_uc001glr.3_Silent_p.G735G|RASAL2_uc009wxc.3_Silent_p.G249G	p.G876G	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			13	3392	+			735					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2628A>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	A	6.810	0.518439	0.13005	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.28	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5137	0.50509	0.7137:0.2863:0.0:0.0	.	.	.	.	X	286	.	.	K	+	1	0	RASAL2	176693678	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.463000	0.21972	1.988000	0.58038	0.533000	0.62120	AAG		0.572	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		T	178427055	A	T	178427055	2	4	275	1	0	0	0	0	0	0	0	1	13064	233	9	5		5	RASAL2	1	178427055	Silent	SNP	A	TCGA-76-6657-01A-11D-1845-08	5416221	178427055	70823566	9	19665											
OR2T3	343173	broad.mit.edu	37	chr1	248636975	248636975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggatccagatgttcttCtacctgaccctggctggagc	6	12	12	11	0	2	2	0	1	2	1	3	4	3	4	3	3	2	2	3	3	1	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:248636975C>T	ENST00000359594.2	+	1	349	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTTCTTCTACCTGACCC	0.537																																						uc001iel.1																			0		p.F107L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(322-324)ttC>ttT		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.							150	135	140					1																	248636975		2193	4298	6491	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636975C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.324C>T	1.37:g.248636975C>T							p.F108F	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	324	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.324C>T	CCDS31117.1																																																																																				0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		T	248636975	C	T	248636975	2	4	275	1	0	0	0	0	0	0	0	1	11023	912	32	3		3	OR2T3	1	248636975	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	70209920	248636975	613646	10	19666											
MSH6	2956	broad.mit.edu	37	chr2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-																															agccctcagagccagaagagGaagaagagatggaggtggga																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:48023188_48023190delGAA	ENST00000234420.5	+	3	765_767	c.613_615delGAA	c.(613-615)gaadel	p.E207del	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	207	Poly-Glu.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCAGAAGAGGAAGAAGAGATGG	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(613-615)gaadel	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.																																				SO:0001651	inframe_deletion	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48023188_48023190delGAA	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.613_615delGAA	2.37:g.48023191_48023193delGAA	ENSP00000234420:p.Glu207del					MSH6_uc002rwc.2_In_Frame_Del_p.E207del|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	p.E207del	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	765_767	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	207			Poly-Glu.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	In_Frame_Del	DEL	ENST00000234420.5	37	c.613_615delGAA	CCDS1836.1																																																																																				0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		-	48023190	GAA	-	48023188	7	5	275	1	0	1	0	1	0	0	0	0	9874	1175	41	0	623	0	MSH6	2	48023188	In_Frame_Del	DEL	GAA	TCGA-76-6657-01A-11D-1845-08		48023188	195176185	11	19667											
SCN3A	6328	broad.mit.edu	37	chr2	165952115	165952115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgataaagatgacaaagtatAaatacatgtacagattttct	18	13	6	4	0	1	4	0	2	1	2	1	4	1	4	0	0	2	2	0	0	8	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:165952115A>G	ENST00000360093.3	-	25	4828	c.4337T>C	c.(4336-4338)tTa>tCa	p.L1446S	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1446S|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1397S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1446					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACAAAGTATAAATACATGTA	0.269																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4336-4338)tTa>tCa		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						71	68	69					2																	165952115		2202	4298	6500	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952115A>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4337T>C	2.37:g.165952115A>G	ENSP00000353206:p.Leu1446Ser					SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.L1397S|SCN3A_uc002ucz.3_Missense_Mutation_p.L1397S	p.L1446S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			24	4829	-			1446					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4337T>C		.	.	.	.	.	.	.	.	.	.	A	22.2	4.254616	0.80135	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98835	-5.17;-5.17;-5.17	5.25	5.25	0.73442	.	0.103484	0.38381	N	0.001705	D	0.99093	0.9688	H	0.94964	3.605	0.45452	D	0.998428	P;P;P	0.49307	0.557;0.557;0.922	B;B;P	0.52386	0.234;0.234;0.697	D	0.99433	1.0936	10	0.87932	D	0	.	15.619	0.76790	1.0:0.0:0.0:0.0	.	1397;1397;1446	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	S	1446;1446;1397	ENSP00000353206:L1446S;ENSP00000283254:L1446S;ENSP00000386726:L1397S	ENSP00000283254:L1446S	L	-	2	0	SCN3A	165660361	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.087000	0.94110	2.333000	0.79357	0.482000	0.46254	TTA		0.269	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	165952115	A	G	165952115	3	3	275	1	0	0	0	0	1	0	0	0	13918	372	13	4	1681	4	SCN3A	2	165952115	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	117928927	165952115	77247258	12	19668											
METTL5	29081	broad.mit.edu	37	chr2	170677785	170677785	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaaatccaacacacaaccTataaatacaaaacacataca	22	6	1	12	0	1	0	1	0	0	0	2	0	2	0	2	0	5	0	2	0	10	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:170677785T>C	ENST00000260953.5	-	3	541		c.e3-2		METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Splice_Site|METTL5_ENST00000392640.2_Splice_Site|METTL5_ENST00000410097.1_Splice_Site|METTL5_ENST00000409837.1_Splice_Site|METTL5_ENST00000409965.1_Splice_Site	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ACACACAACCTATAAATACAA	0.303																																						uc002ufn.3																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						c.e3-1		Homo sapiens methyltransferase like 5 (METTL5), mRNA.							73	73	73					2																	170677785		2203	4298	6501	SO:0001630	splice_region_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170677785T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.225-2A>G	2.37:g.170677785T>C						METTL5_uc002ufo.3_Splice_Site_p.G75_splice|METTL5_uc002ufp.3_Splice_Site_p.G75_splice	p.G75_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN			3	471	-			75					D3DPC9|Q9NVX1	Splice_Site	SNP	ENST00000260953.5	37	c.225_splice	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.825016	0.71143	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.078	0.72090	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL5	170386031	1.000000	0.71417	0.851000	0.33527	0.974000	0.67602	7.806000	0.86020	2.014000	0.59158	0.533000	0.62120	.		0.303	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	Intron	C	170677785	T	C	170677785	5	2	275	1	0	0	0	0	0	0	1	0	9503	1536	53	4	426	4	METTL5	2	170677785	Splice_Site	SNP	T	TCGA-76-6657-01A-11D-1845-08	4725670	170677785	72521588	13	19669											
CHRNG	1146	broad.mit.edu	37	chr2	233404776	233404776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccccaacctgcggcccGcggaacgagactcggatgtg	9	4	13	15	6	0	1	0	0	0	1	1	5	0	3	4	3	3	0	4	3	2	0	rs186589083	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:233404776G>A	ENST00000389494.3	+	2	151	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	CHRNG_ENST00000389492.3_Missense_Mutation_p.A44T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	44					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTGCGGCCCGCGGAACGAGA	0.632													G|||	4	0.000798722	0	0	5008	,	,		17737	0.004		0	False		,,,				2504	0					uc002vsx.1																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(130-132)Gcg>Acg		Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.							62	68	66					2																	233404776		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233404776G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.130G>A	2.37:g.233404776G>A	ENSP00000374145:p.Ala44Thr					CHRNG_uc010fyd.3_Missense_Mutation_p.A44T|CHRNG_uc010fye.1_Missense_Mutation_p.A44T	p.A44T	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	1	151	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	44					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.130G>A	CCDS33400.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	14.24	2.475403	0.43942	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.77489	-1.1;-1.1	4.01	4.01	0.46588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.152135	0.43579	D	0.000557	T	0.71710	0.3372	L	0.49640	1.575	0.42256	D	0.991997	B;B	0.24092	0.079;0.097	B;B	0.37144	0.034;0.242	T	0.76315	-0.3004	10	0.51188	T	0.08	.	16.2992	0.82801	0.0:0.0:1.0:0.0	.	44;44	Q14DU4;P07510	.;ACHG_HUMAN	T	44	ENSP00000374145:A44T;ENSP00000374143:A44T	ENSP00000374143:A44T	A	+	1	0	CHRNG	233113020	0.984000	0.35163	0.095000	0.20976	0.171000	0.22731	4.343000	0.59348	2.063000	0.61619	0.448000	0.29417	GCG		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		A	233404776	G	A	233404776	3	1	275	1	0	0	0	0	1	0	0	0	3396	1087	38	1	136	1	CHRNG	2	233404776	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	62726991	233404776	9794597	14	19670											
UGT2A1	10941	broad.mit.edu	37	chr4	70455172	70455172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgaccaaaaatatagccGttgtcacacagaccagcaag	16	7	8	10	1	1	2	1	1	0	1	1	2	1	2	3	0	2	3	3	0	6	4	rs184187801	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:70455172G>A	ENST00000503640.1	-	6	1557	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M	UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T501M|UGT2A1_ENST00000512704.1_Missense_Mutation_p.T457M|UGT2A2_ENST00000457664.2_Missense_Mutation_p.T510M|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T667M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	501					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAATATAGCCGTTGTCACACA	0.413													G|||	3	0.000599042	8e-04	0	5008	,	,		17398	0.002		0	False		,,,				2504	0					uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1999-2001)aCg>aTg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.		G	MET/THR,MET/THR	0,4406		0,0,2203	103	101	102		1529,1502	2.3	0	4		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	510/537,501/528	70455172	1,13005	2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455172G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1502C>T	4.37:g.70455172G>A	ENSP00000424478:p.Thr501Met					UGT2A1_uc010ihu.3_Missense_Mutation_p.T501M|UGT2A1_uc003hem.4_Missense_Mutation_p.T501M|UGT2A1_uc010ihs.3_Missense_Mutation_p.T510M|UGT2A1_uc021xox.1_Missense_Mutation_p.T466M|UGT2A1_uc010iht.3_Missense_Mutation_p.T457M	p.T667M	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			6	2116	-			501					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.2000C>T	CCDS3529.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.472	-0.321615	0.05386	0.0	1.16E-4	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.08	2.32	0.28847	.	0.827519	0.11205	N	0.588302	T	0.66066	0.2752	M	0.67397	2.05	.	.	.	D;P;D;P;D	0.71674	0.998;0.689;0.983;0.939;0.993	P;B;P;P;P	0.57283	0.807;0.254;0.817;0.534;0.817	T	0.68439	-0.5408	9	0.72032	D	0.01	.	6.9021	0.24288	0.1669:0.1451:0.688:0.0	.	667;667;457;510;501	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	M	510;501;457;667;501	ENSP00000387888:T510M;ENSP00000424478:T501M;ENSP00000421432:T457M;ENSP00000425497:T667M;ENSP00000286604:T501M	ENSP00000286604:T501M	T	-	2	0	UGT2A1	70489761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.543000	0.23237	0.601000	0.29879	-0.317000	0.08691	ACG		0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		A	70455172	G	A	70455172	3	1	275	1	0	0	0	0	1	0	0	0	16950	1145	40	1	85	1	UGT2A1	4	70455172	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		70455172	120699104	15	19671											
FGA	2243	broad.mit.edu	37	chr4	155507683	155507683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtacttccaggtccagAgctcccagagttccagcttc	8	10	8	15	0	0	2	0	0	0	2	6	2	5	2	5	1	3	4	5	1	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:155507683A>T	ENST00000302053.3	-	5	976	c.898T>A	c.(898-900)Tct>Act	p.S300T	FGA_ENST00000403106.3_Missense_Mutation_p.S300T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	300					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCCAGAGCTCCCAGAG	0.562																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(898-900)Tct>Act		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						94	103	100					4																	155507683		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507683A>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.898T>A	4.37:g.155507683A>T	ENSP00000306361:p.Ser300Thr					FGA_uc003ioe.1_Missense_Mutation_p.S300T|FGA_uc003iof.1_Intron	p.S300T	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	956	-	all_hematologic(180;0.215)	Renal(120;0.0458)	300					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.898T>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	2.855	-0.237461	0.05944	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.80994	-1.44;-1.44	4.08	-1.59	0.08453	.	16.970000	0.00166	N	0.000000	T	0.65144	0.2663	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.47586	-0.9106	10	0.10902	T	0.67	.	3.2959	0.06966	0.5313:0.0:0.1799:0.2887	.	300;300	P02671-2;P02671	.;FIBA_HUMAN	T	300	ENSP00000306361:S300T;ENSP00000385981:S300T	ENSP00000306361:S300T	S	-	1	0	FGA	155727133	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-0.546000	0.06062	-0.123000	0.11745	-0.500000	0.04577	TCT		0.562	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155507683	A	T	155507683	3	4	275	1	0	0	0	0	1	0	0	0	5830	304	11	5	1754	5	FGA	4	155507683	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	85052511	155507683	35646593	16	19672											
STOX2	56977	broad.mit.edu	37	chr4	184938294	184938294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattgttgaaagtaaccgtCgtcagaaccccgctttgagc	10	10	10	11	3	1	3	1	2	0	1	2	3	1	3	3	0	3	4	3	0	3	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:184938294C>T	ENST00000308497.4	+	4	4073	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	880					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGTAACCGTCGTCAGAACCC	0.502																																						uc003ivz.1																			0				breast(1)|endometrium(7)|lung(6)	14						c.(2638-2640)Cgt>Tgt		Homo sapiens storkhead box 2 (STOX2), mRNA.							40	42	41					4																	184938294		1869	4098	5967	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184938294C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2638C>T	4.37:g.184938294C>T	ENSP00000311257:p.Arg880Cys					AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	p.R880C	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	4073	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	880					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.2638C>T	CCDS47167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462294|4.462294	0.84425|0.84425	.|.	.|.	ENSG00000173320|ENSG00000173320	ENST00000308497|ENST00000513034	D|.	0.82255|.	-1.59|.	5.73|5.73	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.52472|0.52472	-0.8571|-0.8571	10|5	0.87932|.	D|.	0|.	-14.6333|-14.6333	15.5361|15.5361	0.76004|0.76004	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	880|.	Q9P2F5|.	STOX2_HUMAN|.	C|L	880|69	ENSP00000311257:R880C|.	ENSP00000311257:R880C|.	R|S	+|+	1|2	0|0	STOX2|STOX2	185175288|185175288	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.942000|0.942000	0.58702|0.58702	3.087000|3.087000	0.50167|0.50167	1.381000|1.381000	0.46364|0.46364	0.557000|0.557000	0.71058|0.71058	CGT|TCG		0.502	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		T	184938294	C	T	184938294	3	4	275	1	0	0	0	0	1	0	0	0	15319	884	31	2	2652	2	STOX2	4	184938294	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	29430611	184938294	6215982	17	19673											
DNAH5	1767	broad.mit.edu	37	chr5	13885213	13885213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatgagagagtaactcGcgggcttcttcccctaacat	11	11	9	10	2	1	3	0	2	1	1	3	4	2	3	2	1	2	2	2	1	3	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:13885213G>A	ENST00000265104.4	-	19	2972	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	956	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R956R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGTAACTCGCGGGCTTCTT	0.443									Kartagener syndrome																													uc003jfd.2																			2	Substitution - coding silent(2)	p.R956R(4)	large_intestine(1)|lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2866-2868)cgC>cgT		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							126	120	122					5																	13885213		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13885213G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2868C>T	5.37:g.13885213G>A							p.R956R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			18	2910	-	Lung NSC(4;0.00476)		956			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2868C>T	CCDS3882.1																																																																																				0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13885213	G	A	13885213	2	1	275	1	0	0	0	0	0	0	0	1	4604	1074	38	1		1	DNAH5	5	13885213	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		13885213	167030047	18	19674											
PIK3R1	5295	broad.mit.edu	37	chr5	67522740	67522741	+	Frame_Shift_Ins	INS	-	-	A																															acgtagaatatattggaaggINSaaaaaaatctcgcctcccac																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:67522740_67522741insA	ENST00000521381.1	+	2	853_854	c.237_238insA	c.(238-240)aaafs	p.K80fs	PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.K80fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.K80fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.K80fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	80					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATATTGGAAGGAAAAAAATCTC	0.49			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		1	Whole gene deletion(1)	p.0?(1)	large_intestine(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(235-240)aggaaafs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67522740_67522741insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.244dupA	5.37:g.67522747_67522747dupA	ENSP00000428056:p.Lys80fs	TCGA GBM(4;<1E-08)					p.R79fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	1	817_818	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	79			SH3.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.237_238insA	CCDS3993.1																																																																																				0.49	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67522741	-	A	67522740	7	5	275	1	0	1	1	0	0	0	0	0	11918	1165	41	0	239	0	PIK3R1	5	67522740	Frame_Shift_Ins	INS	-	TCGA-76-6657-01A-11D-1845-08	53637527	67522740	113392520	19	19675											
GPR98	84059	broad.mit.edu	37	chr5	89992775	89992775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaccaaaaagacagtcaTtttaaccatcttggatgact	16	11	6	8	0	2	3	1	2	1	1	2	4	2	4	2	1	2	0	2	1	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:89992775T>C	ENST00000405460.2	+	34	8063	c.7967T>C	c.(7966-7968)aTt>aCt	p.I2656T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2656	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGACAGTCATTTTAACCATC	0.368																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7966-7968)aTt>aCt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							106	95	98					5																	89992775		1846	4084	5930	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89992775T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7967T>C	5.37:g.89992775T>C	ENSP00000384582:p.Ile2656Thr					GPR98_uc003kjt.3_Missense_Mutation_p.I362T|GPR98_uc003kjv.3_Missense_Mutation_p.I256T	p.I2656T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	8063	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2656			Calx-beta 18.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7967T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.506|0.506	-0.868765|-0.868765	0.02570|0.02570	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27557	.|1.66	5.92|5.92	0.982|0.982	0.19762|0.19762	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.640972	.|0.17629	.|N	.|0.167446	T|T	0.07234|0.07234	0.0183|0.0183	N|N	0.00471|0.00471	-1.455|-1.455	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.11329	.|0.006;0.006	T|T	0.39860|0.39860	-0.9593|-0.9593	5|10	.|0.07030	.|T	.|0.85	.|.	9.4556|9.4556	0.38753|0.38753	0.0:0.4332:0.0:0.5668|0.0:0.4332:0.0:0.5668	.|.	.|2656;2656	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|T	222|2656	.|ENSP00000384582:I2656T	.|ENSP00000296619:I2656T	F|I	+|+	1|2	0|0	GPR98|GPR98	90028531|90028531	0.004000|0.004000	0.15560|0.15560	0.157000|0.157000	0.22605|0.22605	0.958000|0.958000	0.62258|0.62258	1.851000|1.851000	0.39338|0.39338	0.478000|0.478000	0.27488|0.27488	0.459000|0.459000	0.35465|0.35465	TTT|ATT		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89992775	T	C	89992775	3	2	275	1	0	0	0	0	1	0	0	0	6721	1493	52	4	8101	4	GPR98	5	89992775	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	22470035	89992775	90922485	20	19676											
ARAP3	64411	broad.mit.edu	37	chr5	141049346	141049346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaatgctggatcctccccCcagcgaggatgagctcaaag	12	6	10	13	1	1	1	1	1	0	0	3	4	3	3	4	2	3	2	4	2	3	0	rs377450993		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:141049346C>T	ENST00000239440.4	-	16	2347	c.2282G>A	c.(2281-2283)gGg>gAg	p.G761E	ARAP3_ENST00000513878.1_Missense_Mutation_p.G423E|ARAP3_ENST00000508305.1_Missense_Mutation_p.G663E	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	761					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATCCTCCCCCCAGCGAGGAT	0.587																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2281-2283)gGg>gAg		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							92	82	85					5																	141049346		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049346C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2282G>A	5.37:g.141049346C>T	ENSP00000239440:p.Gly761Glu					ARAP3_uc011dbe.2_Missense_Mutation_p.G423E|ARAP3_uc003lln.3_Missense_Mutation_p.G663E	p.G761E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			15	2360	-			761					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2282G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270200	0.59540	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11930	2.73;2.73;2.73	5.22	4.35	0.52113	Pleckstrin homology domain (1);	0.208531	0.42053	D	0.000770	T	0.28566	0.0707	L	0.61218	1.895	0.36314	D	0.857808	P;D;D	0.60575	0.609;0.988;0.979	B;P;P	0.58721	0.254;0.844;0.63	T	0.26538	-1.0100	10	0.46703	T	0.11	.	12.9998	0.58667	0.0:0.8377:0.1622:0.0	.	423;663;761	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	E	663;761;423	ENSP00000421826:G663E;ENSP00000239440:G761E;ENSP00000421468:G423E	ENSP00000239440:G761E	G	-	2	0	ARAP3	141029530	0.951000	0.32395	0.996000	0.52242	0.968000	0.65278	3.821000	0.55700	1.198000	0.43158	-0.266000	0.10368	GGG		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		T	141049346	C	T	141049346	3	4	275	1	0	0	0	0	1	0	0	0	840	623	22	3	2424	3	ARAP3	5	141049346	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	51056571	141049346	39865914	21	19677											
FAT2	2196	broad.mit.edu	37	chr5	150920247	150920247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttggctgtatgctcgcGgtccagggtcttccttgagg	4	13	14	10	2	1	1	0	1	1	0	4	1	3	1	2	4	2	4	2	4	2	5	rs201177490		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:150920247G>A	ENST00000261800.5	-	10	8932	c.8920C>T	c.(8920-8922)Cgc>Tgc	p.R2974C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2974	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGCTCGCGGTCCAGGGTC	0.527																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8920-8922)Cgc>Tgc		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							106	88	94					5																	150920247		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920247G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8920C>T	5.37:g.150920247G>A	ENSP00000261800:p.Arg2974Cys						p.R2974C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8933	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2974			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8920C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845847	0.71603	.	.	ENSG00000086570	ENST00000261800	T	0.01745	4.66	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000033	T	0.16342	0.0393	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01541	-1.1329	10	0.46703	T	0.11	.	13.0097	0.58724	0.0:0.0:0.7286:0.2714	.	2974	Q9NYQ8	FAT2_HUMAN	C	2974	ENSP00000261800:R2974C	ENSP00000261800:R2974C	R	-	1	0	FAT2	150900440	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	2.953000	0.49105	2.471000	0.83476	0.563000	0.77884	CGC		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150920247	G	A	150920247	3	1	275	1	0	0	0	0	1	0	0	0	5690	1116	39	2	4185	2	FAT2	5	150920247	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	9870901	150920247	29995013	22	19678											
C6orf221	154288	broad.mit.edu	37	chr6	74073351	74073351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcttcaatagaagtccGggaggccgggacgcagcgtt	8	7	16	10	5	2	1	1	0	1	1	3	3	3	3	2	4	1	2	2	4	3	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:74073351G>A	ENST00000370367.3	+	3	475	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	141							RNA binding (GO:0003723)										ATAGAAGTCCGGGAGGCCGGG	0.657																																						uc003pgt.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						c.(421-423)cGg>cAg		Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.							30	36	34					6																	74073351		2202	4300	6502	SO:0001583	missense	154288							g.chr6:74073351G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.422G>A	6.37:g.74073351G>A	ENSP00000359392:p.Arg141Gln						p.R141Q	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			2	475	+			141					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.422G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300647	0.40694	.	.	ENSG00000203908	ENST00000370367	T	0.51817	0.69	2.91	-4.6	0.03390	.	1.126930	0.06886	N	0.803352	T	0.11537	0.0281	L	0.52573	1.65	0.09310	N	1	P	0.48350	0.909	B	0.33454	0.164	T	0.08472	-1.0720	10	0.45353	T	0.12	-2.7233	0.8683	0.01208	0.3157:0.2931:0.2427:0.1485	.	141	Q587J8	ECAT1_HUMAN	Q	141	ENSP00000359392:R141Q	ENSP00000359392:R141Q	R	+	2	0	C6orf221	74130072	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.631000	0.05496	-1.220000	0.02594	-0.136000	0.14681	CGG		0.657	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		A	74073351	G	A	74073351	3	1	275	1	0	0	0	0	1	0	0	0	2355	1116	39	2	432	2	C6orf221	6	74073351	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		74073351	97041716	23	19679											
FYN	2534	broad.mit.edu	37	chr6	112015863	112015863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaagatttggtaattTcagagctcttccttctccat	9	15	6	11	0	3	2	1	0	2	2	6	2	5	2	3	1	1	2	3	1	2	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:112015863T>C	ENST00000354650.3	-	11	1693	c.1087A>G	c.(1087-1089)Aaa>Gaa	p.K363E	FYN_ENST00000229470.5_Missense_Mutation_p.K311E|FYN_ENST00000368667.2_Missense_Mutation_p.K363E|FYN_ENST00000368678.4_Missense_Mutation_p.K360E|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000229471.4_Missense_Mutation_p.K308E|FYN_ENST00000538466.1_Missense_Mutation_p.K360E|FYN_ENST00000356013.2_Missense_Mutation_p.K308E|FYN_ENST00000368682.3_Missense_Mutation_p.K360E	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTTGGTAATTTCAGAGCTCTT	0.383																																						uc003pvj.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1087-1089)Aaa>Gaa		Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	Dasatinib(DB01254)						173	163	166					6																	112015863		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112015863T>C	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1087A>G	6.37:g.112015863T>C	ENSP00000346671:p.Lys363Glu					FYN_uc003pvi.3_Missense_Mutation_p.K308E|FYN_uc003pvk.3_Missense_Mutation_p.K363E|FYN_uc003pvh.3_Missense_Mutation_p.K360E|FYN_uc010kdy.1_Missense_Mutation_p.K54E	p.K363E	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	1427	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	363			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1087A>G	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968639	0.74131	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.02807	0.0084	N	0.02225	-0.63	0.80722	D	1	P;B;B;P	0.38195	0.622;0.022;0.106;0.622	B;B;B;B	0.39419	0.299;0.042;0.059;0.299	T	0.50457	-0.8826	10	0.54805	T	0.06	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	311;363;308;360	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	E	360;363;308;363;360;311;308;360;311	ENSP00000357671:K360E;ENSP00000346671:K363E;ENSP00000229471:K308E;ENSP00000357656:K363E;ENSP00000357667:K360E;ENSP00000229470:K311E;ENSP00000348295:K308E;ENSP00000440646:K360E	ENSP00000229470:K311E	K	-	1	0	FYN	112122556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAA		0.383	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			C	112015863	T	C	112015863	3	2	275	1	0	0	0	0	1	0	0	0	6126	1792	62	4	542	4	FYN	6	112015863	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	37942512	112015863	59099204	24	19680											
CNKSR3	154043	broad.mit.edu	37	chr6	154831213	154831213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctctagtccagtccacCacttgtttggggctccactt	6	12	8	15	0	1	0	0	0	1	0	4	0	4	0	5	2	0	3	5	2	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:154831213C>T	ENST00000607772.1	-	1	580	c.36G>A	c.(34-36)gtG>gtA	p.V12V		NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	12	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCAGTCCACCACTTGTTTGG	0.652																																						uc021zhc.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(34-36)gtG>gtA		Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.							155	132	140					6																	154831213		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154831213C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.36G>A	6.37:g.154831213C>T						CNKSR3_uc003qpy.3_Silent_p.V12V	p.V12V	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	0	541	-		Ovarian(120;0.196)	12			SAM.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.36G>A	CCDS5246.1																																																																																				0.652	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		T	154831213	C	T	154831213	2	4	275	1	0	0	0	0	0	0	0	1	3608	581	21	3		3	CNKSR3	6	154831213	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	42815350	154831213	16283854	25	19681											
SUMF2	25870	broad.mit.edu	37	chr7	56144570	56144570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccagccaaaccgcacCaacctgtggcaggtaagacc	11	6	10	14	1	0	1	0	0	0	1	1	1	1	1	6	3	3	4	6	3	3	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:56144570C>T	ENST00000413756.1	+	6	602	c.579C>T	c.(577-579)acC>acT	p.T193T	SUMF2_ENST00000434526.2_Silent_p.T212T|SUMF2_ENST00000275607.9_Silent_p.T105T|SUMF2_ENST00000342190.6_Silent_p.T212T|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395436.2_Silent_p.T197T			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	193					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAACCGCACCAACCTGTGGC	0.567																																						uc011kcw.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(634-636)acC>acT		Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.							101	91	94					7																	56144570		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56144570C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.579C>T	7.37:g.56144570C>T						PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Silent_p.T105T|SUMF2_uc003trv.3_Silent_p.T212T|SUMF2_uc011kcy.2_Silent_p.T197T|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Intron	p.T212T	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	667	+	Breast(14;0.214)		193					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.636C>T																																																																																					0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		T	56144570	C	T	56144570	2	4	275	1	0	0	0	0	0	0	0	1	15383	581	21	3		3	SUMF2	7	56144570	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08		56144570	102994093	26	19682											
CACNA2D1	781	broad.mit.edu	37	chr7	81611940	81611940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatctggcttcagggtttccGaatctgcaaagataatgtta	11	14	9	7	1	3	1	1	0	2	1	4	2	4	1	1	2	1	4	1	2	5	5	rs149510838		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:81611940G>A	ENST00000356253.5	-	24	2189	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S633L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	645					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGGGTTTCCGAATCTGCAAA	0.333																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1897-1899)tCg>tTg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	G	LEU/SER	0,4406		0,0,2203	89	95	93		1898	5.8	1	7	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA2D1	NM_000722.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	633/1092	81611940	1,13005	2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81611940G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1934C>T	7.37:g.81611940G>A	ENSP00000348589:p.Ser645Leu						p.S633L	NM_000722	NP_000713	P54289	CA2D1_HUMAN			23	2154	-			645					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1898C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.593|9.593	1.126559|1.126559	0.20959|0.20959	0.0|0.0	1.16E-4|1.16E-4	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|D;T	.|0.81739	.|-1.53;-1.02	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.312791	.|0.36409	.|N	.|0.002606	T|T	0.78227|0.78227	0.4250|0.4250	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.16396	.|0.017	.|B	.|0.20767	.|0.031	T|T	0.70857|0.70857	-0.4758|-0.4758	5|10	.|0.34782	.|T	.|0.22	-15.1723|-15.1723	20.1306|20.1306	0.97998|0.97998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|633	.|P54289-2	.|.	W|L	144|633;652;645	.|ENSP00000349320:S633L;ENSP00000348589:S645L	.|ENSP00000284088:S652L	R|S	-|-	1|2	2|0	CACNA2D1|CACNA2D1	81449876|81449876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	4.394000|4.394000	0.59671|0.59671	2.751000|2.751000	0.94390|0.94390	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				A	81611940	G	A	81611940	3	1	275	1	0	0	0	0	1	0	0	0	2548	1059	37	2	1441	2	CACNA2D1	7	81611940	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	25467370	81611940	77526723	27	19683											
UBR5	51366	broad.mit.edu	37	chr8	103340098	103340099	+	Frame_Shift_Ins	INS	-	-	A																															atttagaagccacagaacttINSaaagtttcatccacccatgt																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:103340098_103340099insA	ENST00000520539.1	-	12	1958_1959	c.1352_1353insT	c.(1351-1353)ttafs	p.L451fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.L451fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.L445fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	451					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACAGAACTTAAAGTTTCATC	0.376																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1351-1353)ttafs		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103340098_103340099insA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1353dupT	8.37:g.103340101_103340101dupA	ENSP00000429084:p.Leu451fs					UBR5_uc003yks.2_Frame_Shift_Ins_p.L451fs	p.L451fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		11	1807_1808	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		451					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.1352_1353insT	CCDS34933.1																																																																																				0.376	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		A	103340099	-	A	103340098	7	5	275	1	0	1	1	0	0	0	0	0	16902	1751	61	0	7238	0	UBR5	8	103340098	Frame_Shift_Ins	INS	-	TCGA-76-6657-01A-11D-1845-08		103340098	43023924	28	19684											
CTHRC1	115908	broad.mit.edu	37	chr8	104388028	104388028	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagacgggagccctggggcCaatggcattccgggtacacc	8	5	15	13	3	0	1	0	0	0	1	1	3	1	2	4	5	2	2	4	5	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:104388028C>T	ENST00000330295.5	+	2	355	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CTHRC1_ENST00000415886.2_Silent_p.A71A|CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Silent_p.A57A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	71	Collagen-like.				cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.A71A(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GCCCTGGGGCCAATGGCATTC	0.522																																						uc003ylk.3																			1	Substitution - coding silent(1)	p.A71A(2)	lung(1)	endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(211-213)gcC>gcT		Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.							104	116	112					8																	104388028		2203	4300	6503	SO:0001819	synonymous_variant	115908					collagen		g.chr8:104388028C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.213C>T	8.37:g.104388028C>T						CTHRC1_uc011lhq.1_Silent_p.A71A	p.A71A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		1	312	+			71			Collagen-like.		G3V141|Q6UW91|Q8IX63	Silent	SNP	ENST00000330295.5	37	c.213C>T	CCDS6299.1																																																																																				0.522	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		T	104388028	C	T	104388028	2	4	275	1	0	0	0	0	0	0	0	1	4010	581	21	3		3	CTHRC1	8	104388028	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	1047930	104388028	41975994	29	19685											
EPPK1	83481	broad.mit.edu	37	chr8	144940918	144940918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaccacaggtgtttgttGctggtttcctgcttctcgat	5	16	11	9	1	1	0	0	0	1	0	3	2	2	1	2	3	3	5	2	3	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:144940918G>T	ENST00000525985.1	-	2	6575	c.6504C>A	c.(6502-6504)agC>agA	p.S2168R				P58107	EPIPL_HUMAN	epiplakin 1	2168						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTTTGTTGCTGGTTTCCT	0.507																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6502-6504)agC>agA		Homo sapiens epiplakin 1 (EPPK1), mRNA.							254	259	257					8																	144940918		2069	4204	6273	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940918G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6504C>A	8.37:g.144940918G>T	ENSP00000436337:p.Ser2168Arg						p.S2168R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6517	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2168					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6504C>A		.	.	.	.	.	.	.	.	.	.	G	7.857	0.725207	0.15439	.	.	ENSG00000227184	ENST00000525985	T	0.66460	-0.21	4.55	-0.907	0.10521	.	.	.	.	.	T	0.30262	0.0759	N	0.01297	-0.9	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27297	-1.0078	9	0.11485	T	0.65	.	6.8307	0.23909	0.0:0.2963:0.2247:0.479	.	2168	E9PPU0	.	R	2168	ENSP00000436337:S2168R	ENSP00000436337:S2168R	S	-	3	2	EPPK1	145012906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.242000	0.08928	-0.015000	0.14150	-0.283000	0.09986	AGC		0.507	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940918	G	T	144940918	3	4	275	1	0	0	0	0	1	0	0	0	5190	1310	46	5	762	5	EPPK1	8	144940918	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	40552890	144940918	1423104	30	19686											
PTEN	5728	broad.mit.edu	37	chr10	89692852	89692856	+	Frame_Shift_Del	DEL	AAGTG	AAGTG	-																															gaagatcttgaccaatggctAagtgaagatgacaatcatgt																								rs587781254		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:89692852_89692856delAAGTG	ENST00000371953.3	+	5	1693_1697	c.336_340delAAGTG	c.(334-342)ctaagtgaafs	p.SE113fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	113	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L112fs*3(1)|p.E114*(1)|p.S113fs*9(1)|p.S113R(1)|p.S113fs*20(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCAATGGCTAAGTGAAGATGACAA	0.376		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		55	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	p.0?(37)|p.L112V(5)|p.?(5)|p.R55fs*1(5)|p.W111R(3)|p.L112fs*3(2)|p.L112P(2)|p.E114*(2)|p.Y27fs*1(2)|p.S113fs*9(2)|p.S113R(2)|p.W111*(2)|p.S113fs*20(2)|p.Y27_N212>Y(2)|p.L112Q(2)|p.L112R(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(334-342)ctaagtgaafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692852_89692856delAAGTG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.336_340delAAGTG	10.37:g.89692852_89692856delAAGTG	ENSP00000361021:p.Ser113fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L112fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1368_1372	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	112		L -> P (in CD and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4).|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.336_340delAAGTG	CCDS31238.1																																																																																				0.376	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89692856	AAGTG	-	89692852	7	5	275	1	0	1	0	1	0	0	0	0	12738	349	13	0	354	0	PTEN	10	89692852	Frame_Shift_Del	DEL	AAGTG	TCGA-76-6657-01A-11D-1845-08		89692852	45841895	31	19687											
CYP2C8	1558	broad.mit.edu	37	chr10	96827103	96827103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctctttccattgcTggaaatgattcctaataaaa	12	15	4	10	0	1	1	0	1	1	0	5	2	4	2	3	1	1	1	3	1	4	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:96827103T>G	ENST00000371270.3	-	3	437	c.343A>C	c.(343-345)Agc>Cgc	p.S115R	CYP2C8_ENST00000535898.1_Missense_Mutation_p.S13R|CYP2C8_ENST00000539050.1_Missense_Mutation_p.S29R	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	115					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TTTCCATTGCTGGAAATGATT	0.483																																						uc001kkb.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(343-345)Agc>Cgc		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						80	78	79					10																	96827103		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827103T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.343A>C	10.37:g.96827103T>G	ENSP00000360317:p.Ser115Arg					CYP2C8_uc010qoa.2_Missense_Mutation_p.S45R|CYP2C8_uc010qoc.2_Missense_Mutation_p.S13R|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.S29R|CYP2C8_uc021pwl.1_Missense_Mutation_p.S45R|CYP2C8_uc010qod.1_Missense_Mutation_p.S29R	p.S115R	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	438	-		Colorectal(252;0.0397)	115					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.343A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897010	0.33535	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70164	-0.46;-0.46;-0.46	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.82444	0.5038	M	0.84585	2.705	0.41091	D	0.985594	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;1.0;0.999	D	0.85807	0.1377	10	0.87932	D	0	.	13.0097	0.58724	0.0:0.0:0.0:1.0	.	29;13;83;115	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	R	115;82;13;29	ENSP00000360317:S115R;ENSP00000445062:S13R;ENSP00000442343:S29R	ENSP00000360317:S115R	S	-	1	0	CYP2C8	96817093	0.928000	0.31464	0.863000	0.33907	0.042000	0.13812	2.362000	0.44169	1.962000	0.57031	0.459000	0.35465	AGC		0.483	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		G	96827103	T	G	96827103	3	3	275	1	0	0	0	0	1	0	0	0	4167	1580	55	5	1157	5	CYP2C8	10	96827103	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	7134251	96827103	38707644	32	19688											
DUSP5	1847	broad.mit.edu	37	chr10	112269798	112269798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgtcagggaaaagggaGgcaaggtcctggtccactgt	10	8	15	8	0	1	0	1	0	0	0	3	2	3	2	2	5	0	1	2	5	3	0	rs373903086		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:112269798G>A	ENST00000369583.3	+	4	1053	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	257	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAAAAGGGAGGCAAGGTCCT	0.512																																						uc001kzd.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(769-771)Ggc>Agc		Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.		G	SER/GLY	0,4406		0,0,2203	65	63	63		769	5.2	1	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP5	NM_004419.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	257/385	112269798	1,13005	2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112269798G>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.769G>A	10.37:g.112269798G>A	ENSP00000358596:p.Gly257Ser						p.G257S	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	1024	+		Breast(234;0.0848)	257			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.769G>A	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051714	0.93793	0.0	1.16E-4	ENSG00000138166	ENST00000369583	T	0.64991	-0.13	6.08	5.16	0.70880	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.044236	0.85682	D	0.000000	T	0.78130	0.4235	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80542	-0.1336	10	0.62326	D	0.03	.	15.7413	0.77899	0.0:0.0:0.8626:0.1374	.	257	Q16690	DUS5_HUMAN	S	257	ENSP00000358596:G257S	ENSP00000358596:G257S	G	+	1	0	DUSP5	112259788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	1.534000	0.49203	0.655000	0.94253	GGC		0.512	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		A	112269798	G	A	112269798	3	1	275	1	0	0	0	0	1	0	0	0	4828	1000	35	3	783	3	DUSP5	10	112269798	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	15442695	112269798	23264949	33	19689											
HABP2	3026	broad.mit.edu	37	chr10	115341658	115341658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcctacccagaggaaagcCccactgagccatcaaccaag	13	5	8	15	0	1	2	1	1	0	1	1	3	1	3	6	1	5	0	6	1	4	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:115341658C>A	ENST00000351270.3	+	9	958	c.862C>A	c.(862-864)Ccc>Acc	p.P288T	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Missense_Mutation_p.P262T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	288					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGAGGAAAGCCCCACTGAGCC	0.507																																						uc001lai.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(862-864)Ccc>Acc		Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.							135	135	135					10																	115341658		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115341658C>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.862C>A	10.37:g.115341658C>A	ENSP00000277903:p.Pro288Thr					HABP2_uc021pyr.1_Missense_Mutation_p.P262T|HABP2_uc010qrz.1_Intron	p.P288T	NM_004132	NP_001171131	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	8	965	+		Colorectal(252;0.0233)|Breast(234;0.0672)	288					A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.862C>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.755954	0.15846	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.87650	-2.28;-2.28	5.97	4.11	0.48088	Kringle-like fold (1);	0.553095	0.20871	N	0.084176	T	0.80989	0.4730	L	0.53249	1.67	0.09310	N	0.999995	B	0.24368	0.102	B	0.18263	0.021	T	0.66006	-0.6030	10	0.25106	T	0.35	.	6.6414	0.22911	0.146:0.706:0.0:0.148	.	288	Q14520	HABP2_HUMAN	T	262;288	ENSP00000443283:P262T;ENSP00000277903:P288T	ENSP00000277903:P288T	P	+	1	0	HABP2	115331648	0.721000	0.28007	0.012000	0.15200	0.041000	0.13682	3.847000	0.55895	0.841000	0.35020	0.655000	0.94253	CCC		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		A	115341658	C	A	115341658	3	1	275	1	0	0	0	0	1	0	0	0	6938	623	22	5	896	5	HABP2	10	115341658	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	3071860	115341658	20193089	34	19690											
OR5B3	441608	broad.mit.edu	37	chr11	58170350	58170350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatgactgctggaataTcacagaaaaagtgatggact	16	8	10	7	0	1	3	1	2	0	1	1	6	1	5	1	2	2	1	1	2	5	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:58170350T>A	ENST00000309403.2	-	1	532	c.533A>T	c.(532-534)gAt>gTt	p.D178V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGGAATATCACAGAAAAA	0.423																																						uc010rkf.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(532-534)gAt>gTt		Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.							100	94	96					11																	58170350		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170350T>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.533A>T	11.37:g.58170350T>A	ENSP00000308270:p.Asp178Val						p.D178V	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			0	533	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	178					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.533A>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	t	11.96	1.795839	0.31777	.	.	ENSG00000172769	ENST00000309403	T	0.00193	8.58	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.00815	0.0027	H	0.95504	3.68	0.50171	D	0.999856	D	0.89917	1.0	D	0.85130	0.997	T	0.53906	-0.8372	10	0.87932	D	0	-50.0067	12.2401	0.54538	0.0:0.0:0.0:1.0	.	178	Q8NH48	OR5B3_HUMAN	V	178	ENSP00000308270:D178V	ENSP00000308270:D178V	D	-	2	0	OR5B3	57926926	1.000000	0.71417	0.954000	0.39281	0.150000	0.21749	3.829000	0.55760	1.835000	0.53391	0.528000	0.53228	GAT		0.423	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		A	58170350	T	A	58170350	3	1	275	1	0	0	0	0	1	0	0	0	11152	1435	50	5	413	5	OR5B3	11	58170350	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08		58170350	76836166	35	19691											
CASP1	834	broad.mit.edu	37	chr11	104899923	104899923	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcatcatcctcaaactCttctgtagttggtaaagata	14	13	6	8	0	4	1	2	0	2	1	5	1	5	1	1	1	2	4	1	1	7	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:104899923C>A	ENST00000533400.1	-	7	969	c.934G>T	c.(934-936)Gag>Tag	p.E312*	CASP1_ENST00000393136.4_Nonsense_Mutation_p.E291*|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Nonsense_Mutation_p.E312*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.E275*|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000526568.1_Nonsense_Mutation_p.E219*|CASP1_ENST00000528974.1_Nonsense_Mutation_p.E273*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.E291*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.E312*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.E291*|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	312					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCTCAAACTCTTCTGTAGTT	0.408																																					NSCLC(41;1246 1743 4934)	uc001pim.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(934-936)Gag>Tag		Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	Minocycline(DB01017)|Penicillamine(DB00859)						101	93	95					11																	104899923		2202	4299	6501	SO:0001587	stop_gained	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899923C>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.934G>T	11.37:g.104899923C>A	ENSP00000433138:p.Glu312*					CASP1_uc001pig.3_Nonsense_Mutation_p.E219*|CASP1_uc021qpq.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpr.1_Intron|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Nonsense_Mutation_p.E312*|CASP1_uc021qpt.1_Nonsense_Mutation_p.E219*|CASP1_uc010rve.2_Nonsense_Mutation_p.E312*|CASP1_uc010rvf.2_Nonsense_Mutation_p.E219*|CASP1_uc010rvg.2_Nonsense_Mutation_p.E291*|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Nonsense_Mutation_p.E291*|CASP1_uc021qpu.1_Nonsense_Mutation_p.E219*|CASP1_uc021qpv.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpw.1_Intron|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Nonsense_Mutation_p.E312*|CASP1_uc009yxj.3_Nonsense_Mutation_p.E157*|CASP1_uc010rvk.2_Nonsense_Mutation_p.E273*	p.E312*	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	934	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	312					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	c.934G>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	19.39	3.818962	0.71028	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	.	.	.	3.12	2.2	0.27929	.	1.010960	0.07938	N	0.978781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.661	0.34093	0.0:0.8808:0.0:0.1192	.	.	.	.	X	161;219;275;312;312;291;291;273	.	ENSP00000376844:E291X	E	-	1	0	CASP1	104405133	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.758000	0.26447	0.888000	0.36160	0.557000	0.71058	GAG		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		A	104899923	C	A	104899923	4	1	275	1	0	0	0	0	0	1	0	0	2668	922	32	5	292	5	CASP1	11	104899923	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	46729573	104899923	30106593	36	19692											
OR8D1	283159	broad.mit.edu	37	chr11	124179842	124179842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtggtgtagaacacagagGacaccttctcctggtccagg	9	8	12	12	1	1	2	0	0	1	2	3	3	2	3	4	4	1	1	4	4	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124179842G>A	ENST00000357821.2	-	1	891	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAACACAGAGGACACCTTCTC	0.463																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(820-822)tCc>tTc		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							111	106	108					11																	124179842		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179842G>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.821C>T	11.37:g.124179842G>A	ENSP00000350474:p.Ser274Phe						p.S274F	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	821	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	274					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.821C>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	8.889	0.953441	0.18431	.	.	ENSG00000196341	ENST00000357821	T	0.34859	1.34	4.29	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36066	U	0.002801	T	0.32466	0.0830	N	0.05330	-0.07	0.09310	N	1	D	0.69078	0.997	D	0.72075	0.976	T	0.03684	-1.1013	10	0.66056	D	0.02	.	6.0217	0.19632	0.4262:0.0:0.5738:0.0	.	274	Q8WZ84	OR8D1_HUMAN	F	274	ENSP00000350474:S274F	ENSP00000350474:S274F	S	-	2	0	OR8D1	123685052	0.000000	0.05858	0.123000	0.21794	0.002000	0.02628	0.155000	0.16362	1.041000	0.40125	-0.363000	0.07495	TCC		0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		A	124179842	G	A	124179842	3	1	275	1	0	0	0	0	1	0	0	0	11231	1174	41	3	108	3	OR8D1	11	124179842	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	19279919	124179842	10826674	37	19693											
OR8B4	283162	broad.mit.edu	37	chr11	124294437	124294439	+	In_Frame_Del	DEL	ACT	ACT	-																															cattgataccaacacatagcActcagaattgacaaagaaac																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124294437_124294439delACT	ENST00000356130.3	-	1	350_352	c.329_331delAGT	c.(328-333)gagtgc>ggc	p.110_111EC>G		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACACATAGCACTCAGAATTGAC	0.433																																						uc010sak.2																			0		p.S109F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(328-333)gagtgc>ggc		Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.																																				SO:0001651	inframe_deletion	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294437_124294439delACT	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.329_331delAGT	11.37:g.124294437_124294439delACT	ENSP00000348449:p.Glu110_Cys111delinsGly						p.110_111EC>G	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	0	329_331	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	110					B2RNF8|Q6IFQ7	In_Frame_Del	DEL	ENST00000356130.3	37	c.329_331delAGT	CCDS31710.1																																																																																				0.433	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		-	124294439	ACT	-	124294437	7	5	275	1	0	1	0	1	0	0	0	0	11229	159	6	0	600	0	OR8B4	11	124294437	In_Frame_Del	DEL	ACT	TCGA-76-6657-01A-11D-1845-08	114595	124294437	10712079	38	19694											
DYRK4	8798	broad.mit.edu	37	chr12	4708241	4708241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaactttcaaggcttcaGtctgtccatagttcggcgct	9	13	8	11	2	3	0	2	0	1	0	5	0	4	0	1	2	2	3	1	2	4	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:4708241G>A	ENST00000540757.2	+	7	768	c.608G>A	c.(607-609)aGt>aAt	p.S203N	DYRK4_ENST00000543431.1_Missense_Mutation_p.S203N|DYRK4_ENST00000010132.5_Missense_Mutation_p.S203N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGTCTGTCCATA	0.413																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(952-954)aGt>aAt		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							161	154	156					12																	4708241		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708241G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.608G>A	12.37:g.4708241G>A	ENSP00000441755:p.Ser203Asn					DYRK4_uc001qmx.3_Missense_Mutation_p.S203N|DYRK4_uc001qmy.2_Missense_Mutation_p.S203N|DYRK4_uc021qtq.1_Missense_Mutation_p.S57N	p.S318N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		8	995	+			203			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.953G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818036	0.50633	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.29	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044789	0.85682	N	0.000000	T	0.17916	0.0430	N	0.21194	0.64	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.15484	0.007;0.005;0.013	T	0.03423	-1.1038	10	0.59425	D	0.04	.	10.4459	0.44495	0.0752:0.1341:0.7907:0.0	.	318;203;203	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	318;203;203;203	ENSP00000437534:S318N;ENSP00000441755:S203N;ENSP00000010132:S203N;ENSP00000439697:S203N	ENSP00000010132:S203N	S	+	2	0	DYRK4	4578502	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.662000	0.83803	1.193000	0.43086	0.555000	0.69702	AGT		0.413	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			A	4708241	G	A	4708241	3	1	275	1	0	0	0	0	1	0	0	0	4858	1029	36	3	626	3	DYRK4	12	4708241	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		4708241	129143654	39	19695											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658296	18658296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggagtatgtgaccGtcacaatgataatatcatgc	12	11	9	9	1	2	2	2	2	0	0	3	3	3	3	2	1	1	1	2	1	4	3	rs371412006		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:18658296G>A	ENST00000266497.5	+	22	3139	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1075H|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1034H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1034	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R1034H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATGTGACCGTCACAATGAT	0.398													G|||	1	0.000199681	0	0	5008	,	,		17323	0		0	False		,,,				2504	0.001					uc001rdt.3																			2	Substitution - Missense(2)	p.R1034H(3)	prostate(2)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3100-3102)cGt>cAt		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.		G	HIS/ARG	0,3854		0,0,1927	125	108	114		3101	4.5	1	12		114	3,8307		0,3,4152	no	missense	PIK3C2G	NM_004570.4	29	0,3,6079	AA,AG,GG		0.0361,0.0,0.0247	probably-damaging	1034/1446	18658296	3,12161	1927	4155	6082	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658296G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3101G>A	12.37:g.18658296G>A	ENSP00000266497:p.Arg1034His					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1075H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R853H	p.R1034H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			22	3217	+		Hepatocellular(102;0.194)	1034			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3101G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880028	0.91740	0.0	3.61E-4	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.98914	-5.23;-5.23;-5.23	4.47	4.47	0.54385	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.135869	0.50627	D	0.000108	D	0.99477	0.9814	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97988	1.0353	10	0.87932	D	0	-15.9827	17.403	0.87465	0.0:0.0:1.0:0.0	.	1074;1075;1034	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1034;1034;1075	ENSP00000404845:R1034H;ENSP00000266497:R1034H;ENSP00000445381:R1075H	ENSP00000266497:R1034H	R	+	2	0	PIK3C2G	18549563	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.524000	0.98036	2.771000	0.95319	0.650000	0.86243	CGT		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18658296	G	A	18658296	3	1	275	1	0	0	0	0	1	0	0	0	11911	1145	40	1	3187	1	PIK3C2G	12	18658296	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	13950055	18658296	115193599	40	19696											
ALX1	8092	broad.mit.edu	37	chr12	85695206	85695206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccagtatcgcagttcttCgaatgaaagccaaggagcac	12	9	9	11	2	1	1	0	1	1	0	4	3	2	2	2	1	2	4	2	1	4	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:85695206C>T	ENST00000316824.3	+	4	1089	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	312					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGCAGTTCTTCGAATGAAAGC	0.378																																						uc001tae.4																			0		p.R312Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(934-936)Cga>Tga		Homo sapiens ALX homeobox 1 (ALX1), mRNA.							90	87	88					12																	85695206		2203	4300	6503	SO:0001587	stop_gained	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695206C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.934C>T	12.37:g.85695206C>T	ENSP00000315417:p.Arg312*						p.R312*	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	938	+			312					Q546C8|Q96FH4	Nonsense_Mutation	SNP	ENST00000316824.3	37	c.934C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266449	0.95399	.	.	ENSG00000180318	ENST00000316824	.	.	.	6.17	5.26	0.73747	.	0.116529	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5537	0.84479	0.1352:0.8648:0.0:0.0	.	.	.	.	X	312	.	ENSP00000315417:R312X	R	+	1	2	ALX1	84219337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	1.564000	0.49628	0.655000	0.94253	CGA		0.378	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		T	85695206	C	T	85695206	4	4	275	1	0	0	0	0	0	1	0	0	556	876	31	2	948	2	ALX1	12	85695206	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	67036910	85695206	48156689	41	19697											
ACACB	32	broad.mit.edu	37	chr12	109687832	109687832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggatgatggcttgggcGtggagaatctgaggggctca	9	8	19	5	1	2	3	1	2	1	1	2	6	2	5	0	7	0	2	0	7	2	1	rs182648370		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:109687832G>A	ENST00000338432.7	+	41	5832	c.5713G>A	c.(5713-5715)Gtg>Atg	p.V1905M	ACACB_ENST00000377854.5_Missense_Mutation_p.V1835M|ACACB_ENST00000377848.3_Missense_Mutation_p.V1905M|ACACB_ENST00000543201.1_Missense_Mutation_p.V571M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1905	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGGCTTGGGCGTGGAGAATCT	0.493													G|||	1	0.000199681	0	0	5008	,	,		17992	0		0.001	False		,,,				2504	0					uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5713-5715)Gtg>Atg		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)	G	MET/VAL	0,4406		0,0,2203	156	145	149		5713	3.8	1	12		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1905/2459	109687832	1,13005	2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109687832G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5713G>A	12.37:g.109687832G>A	ENSP00000341044:p.Val1905Met					ACACB_uc001toc.3_Missense_Mutation_p.V1905M|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.V571M	p.V1905M	NM_001093	NP_001084	O00763	ACACB_HUMAN			40	5832	+			1905			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5713G>A	CCDS31898.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.54	2.564832	0.45694	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81	5.58	3.77	0.43336	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.119890	0.56097	N	0.000031	D	0.98324	0.9444	H	0.95079	3.62	0.80722	D	1	P	0.40731	0.728	B	0.41236	0.351	D	0.97670	1.0166	10	0.87932	D	0	.	12.6349	0.56677	0.1345:0.0:0.8655:0.0	.	1905	O00763	ACACB_HUMAN	M	1905;1905;1835;1136;571;14	ENSP00000341044:V1905M;ENSP00000367079:V1905M;ENSP00000367085:V1835M;ENSP00000444075:V571M	ENSP00000341044:V1905M	V	+	1	0	ACACB	108172215	1.000000	0.71417	0.986000	0.45419	0.003000	0.03518	5.795000	0.69074	0.845000	0.35118	-0.136000	0.14681	GTG		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109687832	G	A	109687832	3	1	275	1	0	0	0	0	1	0	0	0	107	1145	40	1	5871	1	ACACB	12	109687832	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	23992626	109687832	24164063	42	19698											
GCN1L1	10985	broad.mit.edu	37	chr12	120582480	120582480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggccccacataaggaGtaaacttgtctccaaaggtg	12	9	11	9	0	1	1	0	1	1	0	2	2	1	2	3	3	1	1	3	3	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:120582480G>A	ENST00000300648.6	-	41	5327	c.5315C>T	c.(5314-5316)aCt>aTt	p.T1772I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1772					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACATAAGGAGTAAACTTGTC	0.512																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5314-5316)aCt>aTt		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							136	136	136					12																	120582480		2003	4173	6176	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582480G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5315C>T	12.37:g.120582480G>A	ENSP00000300648:p.Thr1772Ile						p.T1772I	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			40	5328	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1772					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.5315C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092034	0.55968	.	.	ENSG00000089154	ENST00000300648	T	0.64618	-0.11	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.047409	0.85682	D	0.000000	T	0.55194	0.1905	L	0.41824	1.3	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.47837	-0.9086	10	0.40728	T	0.16	.	15.517	0.75833	0.0676:0.0:0.9324:0.0	.	1772	Q92616	GCN1L_HUMAN	I	1772	ENSP00000300648:T1772I	ENSP00000300648:T1772I	T	-	2	0	GCN1L1	119066863	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.406000	0.73276	2.824000	0.97209	0.655000	0.94253	ACT		0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			A	120582480	G	A	120582480	3	1	275	1	0	0	0	0	1	0	0	0	6299	1029	36	3	2772	3	GCN1L1	12	120582480	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	10894648	120582480	13269415	43	19699											
ZC3H13	23091	broad.mit.edu	37	chr13	46549530	46549530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcccaatccctttggcGttctcgttctttatcccttt	3	19	5	14	2	3	0	0	0	3	0	7	0	6	0	3	1	0	2	3	1	2	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:46549530G>A	ENST00000242848.4	-	12	2704	c.2356C>T	c.(2356-2358)Cgc>Tgc	p.R786C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R786C			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	786	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCCTTTGGCGTTCTCGTTCT	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0		p.R786H(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2356-2358)Cgc>Tgc		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							442	360	387					13																	46549530		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549530G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2356C>T	13.37:g.46549530G>A	ENSP00000242848:p.Arg786Cys					ZC3H13_uc001vas.1_Missense_Mutation_p.R786C|ZC3H13_uc001vat.1_Missense_Mutation_p.R786C	p.R786C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	2362	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	786			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2356C>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.851960	0.32699	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38722	2.11;1.12	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000075	T	0.63200	0.2491	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.67231	0.818;0.95	T	0.61917	-0.6964	9	0.40728	T	0.16	.	17.6956	0.88281	0.0:0.0:1.0:0.0	.	786;786	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	C	786	ENSP00000242848:R786C;ENSP00000282007:R786C	ENSP00000242848:R786C	R	-	1	0	ZC3H13	45447531	1.000000	0.71417	0.438000	0.26821	0.841000	0.47740	6.231000	0.72307	2.526000	0.85167	0.313000	0.20887	CGC		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		A	46549530	G	A	46549530	3	1	275	1	0	0	0	0	1	0	0	0	17562	1145	40	1	2362	1	ZC3H13	13	46549530	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		46549530	68620348	44	19700											
PCID2	55795	broad.mit.edu	37	chr13	113834511	113834511	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcaaactgcatcaggtgaTactttttcaggagctccaca	11	10	8	12	1	2	1	2	1	0	0	3	2	3	2	2	2	4	3	2	2	2	3	rs193206568		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:113834511T>A	ENST00000337344.4	-	11	897	c.821A>T	c.(820-822)tAt>tTt	p.Y274F	PCID2_ENST00000375477.1_Missense_Mutation_p.Y274F|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Missense_Mutation_p.Y328F|PCID2_ENST00000375457.2_Missense_Mutation_p.Y272F|PCID2_ENST00000375459.1_Missense_Mutation_p.Y272F|PCID2_ENST00000375479.2_Missense_Mutation_p.Y274F	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCAGGTGATACTTTTTCAG	0.413																																						uc021rmt.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(982-984)tAt>tTt		Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.							129	124	126					13																	113834511		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113834511T>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.821A>T	13.37:g.113834511T>A	ENSP00000337405:p.Tyr274Phe					PCID2_uc001vtb.2_Missense_Mutation_p.Y107F|PCID2_uc021rmq.1_Missense_Mutation_p.Y274F|PCID2_uc021rmr.1_Missense_Mutation_p.Y274F|PCID2_uc021rms.1_Missense_Mutation_p.Y274F	p.Y328F	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		10	1064	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	274			PCI.		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.983A>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903144	0.72754	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.85	4.62	0.57501	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.52759	1.655	0.80722	D	1	D;P	0.53312	0.959;0.773	P;P	0.58210	0.835;0.456	T	0.57254	-0.7843	9	0.15952	T	0.53	-28.3082	13.2496	0.60043	0.0:0.0:0.132:0.868	.	328;274	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	F	274;274;274;328;272;272;251;274;251	.	ENSP00000246505:Y328F	Y	-	2	0	PCID2	112882512	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	5.948000	0.70249	2.233000	0.73108	0.533000	0.62120	TAT		0.413	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		A	113834511	T	A	113834511	3	1	275	1	0	0	0	0	1	0	0	0	11579	1406	49	5	394	5	PCID2	13	113834511	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	67284981	113834511	1335367	45	19701											
OR4E2	26686	broad.mit.edu	37	chr14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagacaagtttttttcaCgaaatcatatacataatggg	15	12	8	6	1	2	1	2	0	0	1	2	3	2	1	0	1	1	2	0	1	5	6	rs376029887		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393																																						uc010tmd.2																			0		p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(925-927)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.							33	30	31					14																	22134222		1924	4142	6066	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134222C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.926C>T	14.37:g.22134222C>T	ENSP00000386195:p.Thr309Met						p.T309M	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	0	926	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	309					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.926C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	c	1.122	-0.655064	0.03480	.	.	ENSG00000221977	ENST00000408935	T	0.11169	2.8	5.76	0.553	0.17235	.	.	.	.	.	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	0.999999	B	0.14805	0.011	B	0.06405	0.002	T	0.36601	-0.9741	9	0.42905	T	0.14	.	6.5188	0.22262	0.2067:0.1356:0.0:0.6577	.	309	Q8NGC2	OR4E2_HUMAN	M	309	ENSP00000386195:T309M	ENSP00000386195:T309M	T	+	2	0	OR4E2	21204062	0.003000	0.15002	0.163000	0.22734	0.253000	0.25986	-0.232000	0.09055	-0.079000	0.12707	-2.249000	0.00283	ACG		0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			T	22134222	C	T	22134222	3	4	275	1	0	0	0	0	1	0	0	0	11060	536	19	1	928	1	OR4E2	14	22134222	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		22134222	85215318	46	19702											
JAG2	3714	broad.mit.edu	37	chr14	105622280	105622280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcttccagcggtcctcCgggttgatcatgccggcatg	5	10	13	13	3	2	1	1	1	1	0	5	1	5	1	4	4	2	3	4	4	0	2	rs200966804	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:105622280C>T	ENST00000331782.3	-	4	925	c.522G>A	c.(520-522)ccG>ccA	p.P174P	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.P174P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	174					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGGTCCTCCGGGTTGATCA	0.652													C|||	2	0.000399361	0.0015	0	5008	,	,		16241	0		0	False		,,,				2504	0					uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(520-522)ccG>ccA		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.		C	,	1,4399	2.1+/-5.4	0,1,2199	38	33	35		522,522	-8.7	0.6	14		35	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	,	174/1239,174/1201	105622280	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622280C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.522G>A	14.37:g.105622280C>T						JAG2_uc001yqh.3_Silent_p.P174P	p.P174P	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	926	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	174					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.522G>A	CCDS9998.1																																																																																				0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105622280	C	T	105622280	2	4	275	1	0	0	0	0	0	0	0	1	7935	639	23	2		2	JAG2	14	105622280	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	83488058	105622280	1727260	47	19703											
UNC13C	440279	broad.mit.edu	37	chr15	54786821	54786821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagaacatgaaaatcagcGgttatgcaagagcaccgatt	16	9	9	7	2	1	3	1	1	0	2	1	4	1	3	1	1	4	3	1	1	7	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:54786821G>A	ENST00000260323.11	+	19	4949	c.4949G>A	c.(4948-4950)cGg>cAg	p.R1650Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1650Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1648Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1650	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAATCAGCGGTTATGCAAG	0.308																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4942-4944)cGg>cAg		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							82	76	77					15																	54786821		1809	4063	5872	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786821G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4949G>A	15.37:g.54786821G>A	ENSP00000260323:p.Arg1650Gln					UNC13C_uc021sms.1_Missense_Mutation_p.R1650Q	p.R1648Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	17	4943	+			1650			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4943G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311890	0.95655	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82526	-1.6;-1.62;-1.61	5.87	5.87	0.94306	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	M	0.85197	2.74	0.58432	D	0.999993	D	0.89917	1.0	D	0.63957	0.92	D	0.91790	0.5443	10	0.62326	D	0.03	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	1650	Q8NB66	UN13C_HUMAN	Q	1650;1650;1648	ENSP00000260323:R1650Q;ENSP00000438156:R1650Q;ENSP00000442569:R1648Q	ENSP00000260323:R1650Q	R	+	2	0	UNC13C	52574113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.941000	0.99782	0.655000	0.94253	CGG		0.308	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54786821	G	A	54786821	3	1	275	1	0	0	0	0	1	0	0	0	16983	1116	39	2	5019	2	UNC13C	15	54786821	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		54786821	47744571	48	19704											
CSK	1445	broad.mit.edu	37	chr15	75092831	75092831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcacagtggcggcccagGatgagttctaccgcagtgag	9	6	16	10	2	1	2	0	2	1	0	1	3	1	3	2	4	1	3	2	4	1	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:75092831G>A	ENST00000220003.9	+	6	1270	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CSK_ENST00000309470.9_Missense_Mutation_p.D181N|CSK_ENST00000439220.2_Missense_Mutation_p.D181N|CSK_ENST00000567571.1_Missense_Mutation_p.D181N	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	181					adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GGCGGCCCAGGATGAGTTCTA	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010bkb.1																			0				central_nervous_system(1)|lung(2)	3						c.(541-543)Gat>Aat		Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.							98	84	89					15																	75092831		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75092831G>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.541G>A	15.37:g.75092831G>A	ENSP00000220003:p.Asp181Asn		OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1157	CSK_uc002ays.2_Missense_Mutation_p.D181N|CSK_uc010bkc.1_5'UTR	p.D181N	NM_001127190	NP_004374	P41240	CSK_HUMAN			6	724	+			181					Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.541G>A	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325748	0.81580	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.75589	-0.95;-0.95;-0.95	5.35	5.35	0.76521	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	L	0.59436	1.845	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.67845	-0.5565	10	0.44086	T	0.13	-22.1392	18.8481	0.92215	0.0:0.0:1.0:0.0	.	181	P41240	CSK_HUMAN	N	181;181;130;181	ENSP00000220003:D181N;ENSP00000414764:D181N;ENSP00000438808:D181N	ENSP00000220003:D181N	D	+	1	0	CSK	72879884	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.122000	0.94380	2.790000	0.95986	0.591000	0.81541	GAT		0.632	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		A	75092831	G	A	75092831	3	1	275	1	0	0	0	0	1	0	0	0	3943	1174	41	3	559	3	CSK	15	75092831	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	20306010	75092831	27438561	49	19705											
ADAMTS7	11173	broad.mit.edu	37	chr15	79057006	79057006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcccggccggagctacagCgcaccggcctccagaccgca	8	3	11	19	5	0	1	0	0	0	1	2	2	2	2	6	3	3	3	6	3	1	1	rs200895233	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:79057006C>T	ENST00000388820.4	-	20	4520	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1437	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGCTACAGCGCACCGGCCT	0.726													c|||	2	0.000399361	0	0.0029	5008	,	,		12781	0		0	False		,,,				2504	0					uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4309-4311)cGc>cAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.		C	HIS/ARG	1,4301		0,1,2150	11	13	12		4310	0.2	0.7	15		12	9,8515		0,9,4253	no	missense	ADAMTS7	NM_014272.3	29	0,10,6403	TT,TC,CC		0.1056,0.0232,0.078	probably-damaging	1437/1687	79057006	10,12816	2151	4262	6413	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79057006C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4310G>A	15.37:g.79057006C>T	ENSP00000373472:p.Arg1437His						p.R1437H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	4521	-			1437			TSP type-1 5.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4310G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.294784	0.60086	2.32E-4	0.001056	ENSG00000136378	ENST00000388820	T	0.54866	0.55	4.47	0.248	0.15526	.	0.551628	0.19377	N	0.115750	T	0.55114	0.1900	L	0.60904	1.88	0.27873	N	0.939978	D	0.71674	0.998	P	0.58577	0.841	T	0.52253	-0.8600	10	0.14252	T	0.57	.	8.4946	0.33121	0.0:0.6514:0.0:0.3486	.	1437	Q9UKP4	ATS7_HUMAN	H	1437	ENSP00000373472:R1437H	ENSP00000373472:R1437H	R	-	2	0	ADAMTS7	76844061	0.004000	0.15560	0.719000	0.30619	0.478000	0.33099	-0.361000	0.07612	0.019000	0.15079	0.472000	0.43445	CGC		0.726	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057006	C	T	79057006	3	4	275	1	0	0	0	0	1	0	0	0	271	768	27	1	770	1	ADAMTS7	15	79057006	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	3964175	79057006	23474386	50	19706											
ALPK3	57538	broad.mit.edu	37	chr15	85383056	85383056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatccaccagcgctggttCgccaagttgaagcgcaaggc	11	6	12	12	3	0	2	0	1	0	1	2	2	1	2	3	2	2	4	3	2	4	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:85383056C>T	ENST00000258888.5	+	5	1319	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	384					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGCTGGTTCGCCAAGTTGA	0.617																																						uc002ble.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1150-1152)ttC>ttT		Homo sapiens alpha-kinase 3 (ALPK3), mRNA.							70	66	67					15																	85383056		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383056C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1152C>T	15.37:g.85383056C>T							p.F384F	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1319	+			384					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1152C>T	CCDS10333.1																																																																																				0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		T	85383056	C	T	85383056	2	4	275	1	0	0	0	0	0	0	0	1	546	883	31	2		2	ALPK3	15	85383056	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	6326050	85383056	17148336	51	19707											
BLM	641	broad.mit.edu	37	chr15	91341566	91341566	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctggtcgacattttcttGggtaagtcatctgttttgaa	8	17	10	6	1	3	1	1	1	2	0	4	2	3	1	0	2	1	3	0	2	2	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:91341566G>A	ENST00000355112.3	+	17	3475	c.3357G>A	c.(3355-3357)ttG>ttA	p.L1119L	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Splice_Site_p.L1119L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1119					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACATTTTCTTGGGTAAGTCAT	0.294			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e17+1	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.							122	123	123					15																	91341566		2198	4295	6493	SO:0001630	splice_region_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91341566G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3358+1G>A	15.37:g.91341566G>A						BLM_uc010uqh.2_Splice_Site_p.G1120_splice|BLM_uc010uqi.2_Splice_Site_p.G745_splice|BLM_uc010bnx.3_Splice_Site_p.E1120_splice	p.G1120_splice	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		17	3455	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1120					Q52M96	Silent	SNP	ENST00000355112.3	37	c.3358_splice	CCDS10363.1																																																																																				0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		Silent	A	91341566	G	A	91341566	5	1	275	1	0	0	0	0	0	0	1	0	1445	1362	47	3	3419	3	BLM	15	91341566	Splice_Site	SNP	G	TCGA-76-6657-01A-11D-1845-08	5958510	91341566	11189826	52	19708											
MEF2A	4205	broad.mit.edu	37	chr15	100230604	100230604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttcgagttgtcatccccCcttcaagcaagggcatgatg	9	11	9	12	1	3	1	2	1	1	0	5	2	4	1	3	1	1	3	3	1	2	3	rs373219260		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:100230604C>G	ENST00000557785.1	+	8	1178	c.829C>G	c.(829-831)Cct>Gct	p.P277A	MEF2A_ENST00000557942.1_Missense_Mutation_p.P277A|MEF2A_ENST00000449277.2_Missense_Mutation_p.P209A|MEF2A_ENST00000354410.5_Missense_Mutation_p.P279A|MEF2A_ENST00000338042.6_Missense_Mutation_p.P277A|MEF2A_ENST00000558812.1_Missense_Mutation_p.P209A|MEF2A_ENST00000453228.2_Missense_Mutation_p.P277A	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	279	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGTCATCCCCCCTTCAAGCAA	0.428																																						uc010urw.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(835-837)Cct>Gct		Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.							56	55	55					15																	100230604		1901	4117	6018	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230604C>G		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.829C>G	15.37:g.100230604C>G	ENSP00000453441:p.Pro277Ala					MEF2A_uc002bve.3_Missense_Mutation_p.P277A|MEF2A_uc002bvg.3_Missense_Mutation_p.P277A|MEF2A_uc010urv.2_Missense_Mutation_p.P209A|MEF2A_uc010bos.3_Missense_Mutation_p.P277A|MEF2A_uc002bvf.3_Missense_Mutation_p.P279A|MEF2A_uc002bvi.3_Missense_Mutation_p.P277A|MEF2A_uc010bot.3_Missense_Mutation_p.P209A	p.P279A	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		6	1194	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		279		P -> L.	Required for interaction with MAPKs.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.835C>G	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776832	0.49786	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.85	4.94	0.65067	.	0.096997	0.64402	D	0.000001	T	0.45094	0.1325	M	0.66939	2.045	0.42398	D	0.992554	B;B;D;D;B;D	0.89917	0.019;0.189;0.999;1.0;0.032;0.999	B;B;D;D;B;D	0.91635	0.029;0.065;0.991;0.999;0.065;0.996	T	0.46233	-0.9206	10	0.66056	D	0.02	-11.2521	14.5191	0.67840	0.0:0.9302:0.0:0.0698	.	279;209;198;277;279;277	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	A	277;279;277;209	ENSP00000404110:P277A;ENSP00000346389:P279A;ENSP00000337202:P277A;ENSP00000399460:P209A	ENSP00000337202:P277A	P	+	1	0	MEF2A	98048127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.658000	0.61497	1.478000	0.48253	0.650000	0.86243	CCT		0.428	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			G	100230604	C	G	100230604	3	3	275	1	0	0	0	0	1	0	0	0	9455	623	22	5	993	5	MEF2A	15	100230604	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	8889038	100230604	2300788	53	19709											
ACSM2A	123876	broad.mit.edu	37	chr16	20494409	20494409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatttgtggtcctggcctcGcagttcctgtcccatgaccc	4	12	10	15	1	0	1	0	1	0	0	4	1	3	1	5	2	0	3	5	2	0	2	rs201744736		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:20494409G>A	ENST00000573854.1	+	13	1653	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ACSM2A_ENST00000219054.6_Silent_p.S513S|ACSM2A_ENST00000536134.1_Silent_p.S285S|ACSM2A_ENST00000396104.2_Silent_p.S513S|ACSM2A_ENST00000417235.2_Silent_p.S434S|ACSM2A_ENST00000575690.1_Silent_p.S513S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	513			S -> L (in dbSNP:rs1133607). {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:12654705, ECO:0000269|PubMed:16521160}.		fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCTGGCCTCGCAGTTCCTGT	0.498																																						uc010bwe.3																			0		p.S513P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1537-1539)tcG>tcA		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	198	176	184		1539	-6.5	1	16		184	0,8600		0,0,4300	no	coding-synonymous	ACSM2A	NM_001010845.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		513/578	20494409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494409G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1539G>A	16.37:g.20494409G>A						ACSM2A_uc002dhf.4_Silent_p.S513S|ACSM2A_uc002dhg.4_Silent_p.S513S|ACSM2A_uc010vay.2_Silent_p.S434S|ACSM2A_uc002dhh.4_Silent_p.S143S	p.S513S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			13	1778	+			513		S -> L (in dbSNP:rs1133607).			B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1539G>A	CCDS32401.1																																																																																				0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20494409	G	A	20494409	2	1	275	1	0	0	0	0	0	0	0	1	183	1074	38	1		1	ACSM2A	16	20494409	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		20494409	69860344	54	19710											
CDH5	1003	broad.mit.edu	37	chr16	66432371	66432371	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccagctggtcctgcagAtctccgcaatagacaaggac	11	7	9	14	1	1	2	0	0	1	2	4	3	3	3	3	2	2	3	3	2	3	1	rs375598428		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:66432371A>C	ENST00000341529.3	+	10	1646	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GGTCCTGCAGATCTCCGCAAT	0.493																																						uc002eom.4																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1498-1500)Atc>Ctc		Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.							143	121	128					16																	66432371		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432371A>C	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1498A>C	16.37:g.66432371A>C	ENSP00000344115:p.Ile500Leu						p.I500L	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1654	+		Ovarian(137;0.0955)	500			Cadherin 5.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1498A>C	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029462	0.75504	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.47177	0.85	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42471	0.1204	L	0.28400	0.85	0.80722	D	1	B	0.27910	0.193	B	0.38194	0.267	T	0.40496	-0.9560	9	0.46703	T	0.11	.	12.1099	0.53834	1.0:0.0:0.0:0.0	.	500	P33151	CADH5_HUMAN	L	500;385;241	ENSP00000344115:I500L	ENSP00000344115:I500L	I	+	1	0	CDH5	64989872	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	4.544000	0.60691	2.093000	0.63338	0.459000	0.35465	ATC		0.493	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		C	66432371	A	C	66432371	3	2	275	1	0	0	0	0	1	0	0	0	3113	333	12	5	1532	5	CDH5	16	66432371	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	45937962	66432371	23922382	55	19711											
NF1	4763	broad.mit.edu	37	chr17	29556484	29556484	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttgactcccaaggacagGtaaagtgttctcttattttt	9	18	7	7	0	1	1	0	1	1	0	3	2	2	2	1	2	0	2	1	2	4	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29556484G>A	ENST00000358273.4	+	21	3233		c.e21+1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGGACAGGTAAAGTGTTC	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	15	Whole gene deletion(8)|Unknown(7)	p.0?(8)|p.?(7)	soft_tissue(10)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS031788|CS086413	NF1	S		c.e21+1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							74	77	76					17																	29556484		2200	4297	6497	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556484G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2850+1G>A	17.37:g.29556484G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.Q950_splice|NF1_uc010csn.2_Splice_Site_p.Q810_splice|NF1_uc002hgi.1_5'UTR	p.Q950_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3233	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	950					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.2850_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073877	0.76415	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3532	0.94398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26580610	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.434000	0.97515	2.594000	0.87642	0.455000	0.32223	.		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	A	29556484	G	A	29556484	5	1	275	1	0	0	0	0	0	0	1	0	10356	1275	44	3	2994	3	NF1	17	29556484	Splice_Site	SNP	G	TCGA-76-6657-01A-11D-1845-08		29556484	51638726	56	19712											
NF1	4763	broad.mit.edu	37	chr17	29683590	29683590	+	Frame_Shift_Del	DEL	T	T	-																															aggagagtagcagaaactgaTtatgaaatgggtgagaaaca																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29683590delT	ENST00000358273.4	+	52	8111	c.7728delT	c.(7726-7728)gatfs	p.D2576fs	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Del_p.D369fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.D2555fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2576					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGAAACTGATTATGAAATGG	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7726-7728)gatfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							84	71	75					17																	29683590		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683590delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7728delT	17.37:g.29683590delT	ENSP00000351015:p.Asp2576fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.D2555fs|NF1_uc010cso.3_Frame_Shift_Del_p.D764fs|NF1_uc010wbt.1_Frame_Shift_Del_p.D54fs|NF1_uc010wbu.1_Non-coding_Transcript	p.D2576fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	51	8111	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2576					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.7728delT	CCDS42292.1																																																																																				0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29683590	T	-	29683590	7	5	275	1	0	1	0	1	0	0	0	0	10356	1490	52	0	7995	0	NF1	17	29683590	Frame_Shift_Del	DEL	T	TCGA-76-6657-01A-11D-1845-08	127106	29683590	51511620	57	19713											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29850996	29850997	+	Frame_Shift_Del	DEL	AC	AC	-																															gagcaagctgaagcaagagaAcacacagctggtgcacaggt																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29850996_29850997delAC	ENST00000325874.8	+	9	1344_1345	c.1115_1116delAC	c.(1114-1116)aacfs	p.N372fs	RAB11FIP4_ENST00000394744.2_Frame_Shift_Del_p.N270fs	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	372	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AAGCAAGAGAACACACAGCTGG	0.599																																						uc002hgn.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1114-1116)aacfs		Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850996_29850997delAC	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1115_1116delAC	17.37:g.29851000_29851001delAC	ENSP00000312837:p.Asn372fs					RAB11FIP4_uc002hgo.2_Frame_Shift_Del_p.N270fs	p.N372fs	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			8	1344_1345	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	372			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Del	DEL	ENST00000325874.8	37	c.1115_1116delAC	CCDS11267.1																																																																																				0.599	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		-	29850997	AC	-	29850996	7	5	275	1	0	1	0	1	0	0	0	0	12896	43	2	0	1149	0	RAB11FIP4	17	29850996	Frame_Shift_Del	DEL	AC	TCGA-76-6657-01A-11D-1845-08	167406	29850996	51344214	58	19714											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acatttttagatcagatgttCccatcagaatccaaacgaga	15	11	6	9	1	2	4	2	0	0	4	4	5	4	4	2	0	1	1	2	0	3	4	rs9675365	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					uc010dlo.2																			2	Substitution - Missense(2)	p.F477L(3)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1429-1431)ttC>ttG		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							167	153	157					18																	14779969		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779969C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu					ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.F477L	p.F477L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			10	1611	+			477		F -> L (in dbSNP:rs9675365).			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1431C>G	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		G	14779969	C	G	14779969	3	3	275	1	0	0	0	0	1	0	0	0	659	854	30	5	1473	5	ANKRD30B	18	14779969	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		14779969	63297279	59	19715											
C19orf21	126353	broad.mit.edu	37	chr19	757476	757476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacccccggcccacctcGgtccacgcccctggaggaga	7	3	12	19	3	0	1	0	0	0	1	2	4	1	3	7	5	0	0	7	5	0	0	rs377309090		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:757476G>A	ENST00000215582.6	+	2	633	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	177					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGCCCACCTCGGTCCACGCCC	0.667																																						uc002lpo.3																			0		p.R177R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(529-531)cGg>cAg		Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.							18	22	21					19																	757476		2192	4295	6487	SO:0001583	missense	126353							g.chr19:757476G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.530G>A	19.37:g.757476G>A	ENSP00000215582:p.Arg177Gln						p.R177Q	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	613	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	177						Missense_Mutation	SNP	ENST00000215582.6	37	c.530G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262172	0.23051	.	.	ENSG00000099812	ENST00000215582	T	0.62788	0.0	3.87	-7.45	0.01374	.	4.722090	0.00913	N	0.002495	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19321	-1.0309	10	0.20519	T	0.43	-0.4719	2.2606	0.04066	0.1941:0.3753:0.2943:0.1362	.	177	Q8IVT2	CS021_HUMAN	Q	177	ENSP00000215582:R177Q	ENSP00000215582:R177Q	R	+	2	0	C19orf21	708476	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-2.133000	0.01308	-1.995000	0.00971	0.313000	0.20887	CGG		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		A	757476	G	A	757476	3	1	275	1	0	0	0	0	1	0	0	0	1913	1116	39	2	532	2	C19orf21	19	757476	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		757476	58371507	60	19716											
REXO1	57455	broad.mit.edu	37	chr19	1827011	1827011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtccacatccgcccccgCgctggaggtggaggaggagg	7	5	17	12	3	0	0	0	0	0	0	2	4	2	4	4	6	0	2	4	6	1	1	rs201699355	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:1827011C>G	ENST00000170168.4	-	2	1871	c.1777G>C	c.(1777-1779)Gcg>Ccg	p.A593P	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	593						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCCCCCGCGCTggaggtg	0.697																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1777-1779)Gcg>Ccg		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.							8	6	6					19																	1827011		2146	4177	6323	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827011C>G	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1777G>C	19.37:g.1827011C>G	ENSP00000170168:p.Ala593Pro					REXO1_uc010dsr.1_Missense_Mutation_p.A547P	p.A593P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1872	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	593					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1777G>C	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571145	0.28003	.	.	ENSG00000079313	ENST00000170168	T	0.22336	1.96	3.4	-3.61	0.04556	.	0.374687	0.19118	U	0.122249	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.33339	0.162	T	0.34576	-0.9823	10	0.38643	T	0.18	-4.7851	3.216	0.06699	0.294:0.3539:0.0:0.352	.	593	Q8N1G1	REXO1_HUMAN	P	593	ENSP00000170168:A593P	ENSP00000170168:A593P	A	-	1	0	REXO1	1778011	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.220000	0.17660	-0.922000	0.03789	-0.693000	0.03709	GCG		0.697	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		G	1827011	C	G	1827011	3	3	275	1	0	0	0	0	1	0	0	0	13241	768	27	5	1948	5	REXO1	19	1827011	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	1069535	1827011	57301972	61	19717											
FCER2	2208	broad.mit.edu	37	chr19	7763247	7763247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccccttcataccgttcCgggcagccctctcttccagc	5	11	7	18	2	2	1	1	1	1	0	5	1	4	1	6	1	3	2	6	1	1	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:7763247C>T	ENST00000346664.5	-	4	397	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	FCER2_ENST00000597921.1_Missense_Mutation_p.R62Q|FCER2_ENST00000360067.4_Missense_Mutation_p.R61Q	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	62			R -> W (in dbSNP:rs2228137).		Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CATACCGTTCCGGGCAGCCCT	0.622																																						uc002mhn.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(184-186)cGg>cAg		Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.							93	71	79					19																	7763247		2203	4300	6503	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7763247C>T	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.185G>A	19.37:g.7763247C>T	ENSP00000264072:p.Arg62Gln					FCER2_uc021unx.1_Missense_Mutation_p.R61Q|FCER2_uc002mhm.2_Missense_Mutation_p.R62Q|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Missense_Mutation_p.R62Q	p.R62Q	NM_001220500	NP_001207429	P06734	FCER2_HUMAN			3	402	-			62		R -> W (in dbSNP:rs2228137).				Missense_Mutation	SNP	ENST00000346664.5	37	c.185G>A	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751447	0.15778	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.02498	4.28;4.27	4.24	-7.69	0.01263	.	1.265470	0.06051	N	0.656637	T	0.00845	0.0028	N	0.01048	-1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46119	-0.9214	10	0.02654	T	1	.	8.2167	0.31516	0.1073:0.2642:0.0:0.6285	.	61;62	P06734-2;P06734	.;FCER2_HUMAN	Q	62;61	ENSP00000264072:R62Q;ENSP00000353178:R61Q	ENSP00000264072:R62Q	R	-	2	0	FCER2	7669247	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.801000	0.00363	-1.848000	0.01172	-2.048000	0.00412	CGG		0.622	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		T	7763247	C	T	7763247	3	4	275	1	0	0	0	0	1	0	0	0	5776	652	23	2	812	2	FCER2	19	7763247	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	5936236	7763247	51365736	62	19718											
FBN3	84467	broad.mit.edu	37	chr19	8183822	8183822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtcagctcatgcccagggGgacactggcacttgtagctc	7	8	12	14	1	2	0	2	0	0	0	3	1	2	1	2	3	3	4	2	3	1	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:8183822G>A	ENST00000600128.1	-	26	3710	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L	FBN3_ENST00000601739.1_Missense_Mutation_p.P1099L|FBN3_ENST00000270509.2_Missense_Mutation_p.P1099L			Q75N90	FBN3_HUMAN	fibrillin 3	1099	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGCCCAGGGGGACACTGGCA	0.592																																						uc002mjf.3																			0		p.C1098C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3295-3297)cCc>cTc		Homo sapiens fibrillin 3 (FBN3), mRNA.							160	117	131					19																	8183822		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8183822G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3296C>T	19.37:g.8183822G>A	ENSP00000470498:p.Pro1099Leu						p.P1099L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			24	3313	-			1099			EGF-like 14; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3296C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414692	0.62511	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	4.18	3.11	0.35812	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.93956	0.8065	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.92623	0.6109	10	0.39692	T	0.17	.	13.3784	0.60752	0.0:0.0:0.8411:0.1589	.	1099	Q75N90	FBN3_HUMAN	L	1099	ENSP00000270509:P1099L	ENSP00000270509:P1099L	P	-	2	0	FBN3	8089822	1.000000	0.71417	0.920000	0.36463	0.416000	0.31233	7.290000	0.78711	0.841000	0.35020	0.313000	0.20887	CCC		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8183822	G	A	8183822	3	1	275	1	0	0	0	0	1	0	0	0	5704	1232	43	3	5289	3	FBN3	19	8183822	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	420575	8183822	50945161	63	19719											
SALL4	57167	broad.mit.edu	37	chr20	50407510	50407510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctgcaggtcaccGggcaaggagccacccgtgag	8	3	16	14	2	1	1	1	1	0	0	1	2	1	2	4	5	2	3	4	5	1	0	rs138804604		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:50407510G>A	ENST00000217086.4	-	2	1623	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	504					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													G|||	1	0.000199681	0	0	5008	,	,		18873	0		0	False		,,,				2504	0.001					uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1510-1512)ccC>ccT		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	97	105	102		1512	4.4	0.3	20	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL4	NM_020436.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		504/1054	50407510	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407510G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1512C>T	20.37:g.50407510G>A						SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	p.P504P	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	1613	-			504					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1512C>T	CCDS13438.1																																																																																				0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50407510	G	A	50407510	2	1	275	1	0	0	0	0	0	0	0	1	13813	1103	39	2		2	SALL4	20	50407510	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		50407510	12618010	64	19720											
LAMA5	3911	broad.mit.edu	37	chr20	60928193	60928193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcagagactcacaggCaaagaactgccagggctggt	11	4	15	11	2	1	2	1	0	0	2	1	3	1	2	1	5	2	3	1	5	2	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:60928193C>G	ENST00000252999.3	-	3	631	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	LAMA5_ENST00000370677.3_Missense_Mutation_p.A189P|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.A189P	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GACTCACAGGCAAAGAACTGC	0.662																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(565-567)Gcc>Ccc		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						26	27	27					20																	60928193		2164	4255	6419	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60928193C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.565G>C	20.37:g.60928193C>G	ENSP00000252999:p.Ala189Pro					LAMA5_uc021wfw.1_Missense_Mutation_p.A189P	p.A189P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		2	632	-	Breast(26;1.57e-08)		189			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.565G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090162	0.94149	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.80123	-1.34;-1.34;-1.34	4.4	4.4	0.53042	Laminin, N-terminal (3);	0.123149	0.53938	U	0.000050	D	0.92221	0.7533	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94587	0.7784	10	0.87932	D	0	.	16.98	0.86324	0.0:1.0:0.0:0.0	.	189	O15230	LAMA5_HUMAN	P	189	ENSP00000252999:A189P;ENSP00000359726:A189P;ENSP00000359711:A189P	ENSP00000252999:A189P	A	-	1	0	LAMA5	60361588	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	5.687000	0.68219	2.019000	0.59389	0.462000	0.41574	GCC		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		G	60928193	C	G	60928193	3	3	275	1	0	0	0	0	1	0	0	0	8609	710	25	5	10834	5	LAMA5	20	60928193	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	10520683	60928193	2097327	65	19721											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117243	46117243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgagcccccctgctgcGccccggccccctgcctgagc	2	6	12	21	2	0	2	0	2	0	0	0	2	0	2	8	1	5	2	8	1	0	0	rs199900483		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr21:46117243G>A	ENST00000400365.3	+	1	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	43	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677																																						uc002zfw.1																			0				large_intestine(1)|lung(8)	9						c.(127-129)Gcc>Acc		Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.		G	,THR/ALA	0,4172		0,0,2086	44	52	49		,127	0.5	0.7	21		49	2,8452		0,2,4225	no	intron,missense	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,58	0,2,6311	AA,AG,GG		0.0237,0.0,0.0158	,probably-damaging	,43/246	46117243	2,12624	2086	4227	6313	SO:0001583	missense	386685					keratin filament		g.chr21:46117243G>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.127G>A	21.37:g.46117243G>A	ENSP00000383216:p.Ala43Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A43T	NM_198699	NP_941972	P60413	KR10C_HUMAN			0	157	+			43			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.127G>A	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	N	7.053	0.564762	0.13498	0.0	2.37E-4	ENSG00000189169	ENST00000400365	T	0.04654	3.58	3.61	0.506	0.16961	.	.	.	.	.	T	0.03305	0.0096	N	0.20986	0.625	0.22446	N	0.999096	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	9	0.39692	T	0.17	.	4.6012	0.12354	0.216:0.3464:0.4376:0.0	.	43	P60413	KR10C_HUMAN	T	43	ENSP00000383216:A43T	ENSP00000383216:A43T	A	+	1	0	KRTAP10-12	44941671	.	.	0.700000	0.30305	0.237000	0.25408	.	.	-0.159000	0.11021	-0.736000	0.03550	GCC		0.677	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		A	46117243	G	A	46117243	3	1	275	1	0	0	0	0	1	0	0	0	8508	1087	38	1	129	1	KRTAP10-12	21	46117243	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		46117243	2012652	66	19722											
POTEH	23784	broad.mit.edu	37	chr22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgcccacgttgctcttgCcgctccccctgcaccaggcg	5	8	10	18	3	1	0	0	0	1	0	2	0	2	0	5	1	4	4	5	1	1	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						uc010gqp.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(115-117)gGc>gAc		Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.							88	108	101					22																	16287770		1970	3758	5728	SO:0001583	missense	23784							g.chr22:16287770C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.116G>A	22.37:g.16287770C>T	ENSP00000340610:p.Gly39Asp					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.G39D	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			0	168	-			39					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.116G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313845	0.23908	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.57752	0.38	.	.	.	.	.	.	.	.	T	0.42131	0.1189	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.52823	0.71	T	0.32134	-0.9918	7	0.07644	T	0.81	.	.	.	.	.	39	Q6S545	POTEH_HUMAN	D	39	ENSP00000340610:G39D	ENSP00000340610:G39D	G	-	2	0	POTEH	14667770	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.904000	0.28491	0.073000	0.16731	0.074000	0.15403	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16287770	C	T	16287770	3	4	275	1	0	0	0	0	1	0	0	0	12267	739	26	3	1561	3	POTEH	22	16287770	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		16287770	35016796	67	19723											
LZTR1	8216	broad.mit.edu	37	chr22	21342326	21342326	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactggggacatttattccaAttctaacttgaagaataaaa	16	12	6	7	0	1	2	0	1	1	1	2	3	2	3	1	2	1	0	1	2	7	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:21342326A>C	ENST00000215739.8	+	5	787	c.428A>C	c.(427-429)aAt>aCt	p.N143T	LZTR1_ENST00000389355.3_Missense_Mutation_p.N124T|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	143					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATTTATTCCAATTCTAACTTG	0.438																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(427-429)aAt>aCt		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							82	83	83					22																	21342326		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21342326A>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.428A>C	22.37:g.21342326A>C	ENSP00000215739:p.Asn143Thr					LZTR1_uc002ztn.3_Missense_Mutation_p.N102T|LZTR1_uc011ahy.2_Missense_Mutation_p.N124T|LZTR1_uc010gsr.1_Missense_Mutation_p.N14T	p.N143T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	531	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	143					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.428A>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742625	0.89573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67171	-0.24;-0.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.97110	0.999;1.0;0.997;0.991	T	0.82979	-0.0188	10	0.42905	T	0.14	-22.5753	13.5984	0.62004	1.0:0.0:0.0:0.0	.	124;102;143;102	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	T	102;143;124	ENSP00000215739:N143T;ENSP00000374006:N124T	ENSP00000215739:N143T	N	+	2	0	LZTR1	19672326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.102000	0.63906	0.459000	0.35465	AAT		0.438	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		C	21342326	A	C	21342326	3	2	275	1	0	0	0	0	1	0	0	0	9137	101	4	5	446	5	LZTR1	22	21342326	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	5054556	21342326	29962240	68	19724											
C1QTNF6	114904	broad.mit.edu	37	chr22	37581479	37581479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagacgggacccagggcgGctgtccccatggtgacctgg	6	5	15	15	2	0	2	0	1	0	1	1	3	1	3	5	5	0	1	5	5	0	0	rs375717787		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:37581479G>T	ENST00000337843.2	-	2	143	c.68C>A	c.(67-69)gCc>gAc	p.A23D	C1QTNF6_ENST00000255836.6_5'Flank|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.A23D	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	4			P -> R (in dbSNP:rs229526). {ECO:0000269|PubMed:12975309}.		protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						ACCCAGGGCGGCTGTCCCCAT	0.602																																						uc003aqx.1																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(67-69)gCc>gAc		Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.							32	33	33					22																	37581479		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37581479G>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.68C>A	22.37:g.37581479G>T	ENSP00000338812:p.Ala23Asp					C1QTNF6_uc003aqw.1_Missense_Mutation_p.A4D|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A23D|C1QTNF6_uc003aqz.1_Non-coding_Transcript	p.A23D	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			1	331	-			4		P -> R (in dbSNP:rs229526).			Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.68C>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516165	0.12944	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.39787	1.06;1.06	4.49	3.1	0.35709	.	0.934197	0.08948	N	0.870492	T	0.44201	0.1282	M	0.63428	1.95	0.09310	N	1	P;P	0.47677	0.899;0.718	P;B	0.45681	0.49;0.296	T	0.35051	-0.9804	10	0.72032	D	0.01	.	5.3959	0.16268	0.2246:0.1584:0.617:0.0	.	23;4	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	D	23	ENSP00000380299:A23D;ENSP00000338812:A23D	ENSP00000338812:A23D	A	-	2	0	C1QTNF6	35911425	0.000000	0.05858	0.003000	0.11579	0.429000	0.31625	-0.222000	0.09190	0.716000	0.32124	0.491000	0.48974	GCC		0.602	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		T	37581479	G	T	37581479	3	4	275	1	0	0	0	0	1	0	0	0	1967	1203	42	5	776	5	C1QTNF6	22	37581479	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	16239153	37581479	13723087	69	19725											
C1orf86	199990	broad.mit.edu	37	chr1	2125232	2125232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtgccctcctgcccCgtgaagcagccggtaggaac	7	7	12	15	2	0	1	0	1	0	0	2	2	2	2	6	3	5	2	6	3	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:2125232C>T	ENST00000378546.4	-	3	340	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	C1orf86_ENST00000378545.3_Missense_Mutation_p.G209R|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	106					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCCTGCCCCGTGAAGCAGC	0.692																																						uc001aix.2																			0				central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(301-303)acG>acA		Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.							19	26	24					1																	2125232		2191	4292	6483	SO:0001583	missense	199990							g.chr1:2125232C>T	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.316G>A	1.37:g.2125232C>T	ENSP00000367808:p.Gly106Arg					C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.G106R	p.T101T	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	6	1076	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	79					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	c.303G>A	CCDS38.2	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660132	0.29515	.	.	ENSG00000162585	ENST00000400918;ENST00000378546;ENST00000378545	T;T;T	0.52057	0.76;0.79;0.68	3.77	-3.54	0.04653	.	3.660770	0.01159	N	0.006608	T	0.23133	0.0559	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.04930	-1.0917	9	0.14656	T	0.56	-1.3858	0.8384	0.01145	0.1502:0.2673:0.2854:0.2971	.	106	Q6NZ36	CA086_HUMAN	R	106;106;209	ENSP00000383709:G106R;ENSP00000367808:G106R;ENSP00000367807:G209R	ENSP00000367807:G209R	G	-	1	0	C1orf86	2115092	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.195000	0.09546	-0.646000	0.05452	-0.448000	0.05591	GGG		0.692	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		T	2125232	C	T	2125232	3	4	276	1	0	0	0	0	1	0	0	0	2063	652	23	2	474	2	C1orf86	1	2125232	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		2125232	247125389	1	19726											
SPEN	23013	broad.mit.edu	37	chr1	16260992	16260992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactgctgcatctggtggtGtaacggccacaacaggcacg	9	9	12	11	2	1	0	0	0	1	0	1	0	1	0	1	4	5	4	1	4	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:16260992G>A	ENST00000375759.3	+	11	8461	c.8257G>A	c.(8257-8259)Gta>Ata	p.V2753I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2753	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGGTGGTGTAACGGCCAC	0.577																																						uc001axk.1																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(8257-8259)Gta>Ata		Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.							77	69	72					1																	16260992		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260992G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8257G>A	1.37:g.16260992G>A	ENSP00000364912:p.Val2753Ile					SPEN_uc010obp.1_Missense_Mutation_p.V2712I	p.V2753I	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	10	8461	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2753			Interaction with RBPSUH (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8257G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	1.161	-0.643864	0.03531	.	.	ENSG00000065526	ENST00000375759	T	0.10477	2.87	3.55	2.64	0.31445	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.21878	N	0.999499	B	0.22541	0.071	B	0.21360	0.034	T	0.41963	-0.9479	9	0.23302	T	0.38	-4.8509	6.9956	0.24780	0.126:0.0:0.874:0.0	.	2753	Q96T58	MINT_HUMAN	I	2753	ENSP00000364912:V2753I	ENSP00000364912:V2753I	V	+	1	0	SPEN	16133579	0.001000	0.12720	0.226000	0.23910	0.190000	0.23558	0.695000	0.25527	1.073000	0.40885	-0.258000	0.10820	GTA		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		A	16260992	G	A	16260992	3	1	276	1	0	0	0	0	1	0	0	0	15037	1377	48	3	8299	3	SPEN	1	16260992	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	14135760	16260992	232989629	2	19727											
OPRD1	4985	broad.mit.edu	37	chr1	29189500	29189500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcgtggtgtgttgggCgcccatccacatcttcgtca	4	12	11	14	4	2	0	1	0	1	0	5	0	3	0	3	2	0	1	3	2	0	3	rs139895939		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:29189500C>T	ENST00000234961.2	+	3	1066	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	275					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GTGTGTTGGGCGCCCATCCAC	0.672																																						uc001brf.1																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(823-825)gCg>gTg		Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	C	VAL/ALA	0,4402		0,0,2201	32	28	29		824	4.1	1	1	dbSNP_134	29	1,8595		0,1,4297	no	missense	OPRD1	NM_000911.3	64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	275/373	29189500	1,12997	2201	4298	6499	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189500C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.824C>T	1.37:g.29189500C>T	ENSP00000234961:p.Ala275Val						p.A275V	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	1066	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	275					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.824C>T	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097276	0.76870	0.0	1.16E-4	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.71698	-0.59	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.208574	0.41605	D	0.000859	T	0.57636	0.2067	N	0.25825	0.765	0.47183	D	0.999347	B	0.30686	0.29	B	0.29862	0.108	T	0.59867	-0.7373	10	0.41790	T	0.15	.	13.7884	0.63123	0.0:1.0:0.0:0.0	.	275	P41143	OPRD_HUMAN	V	275;227	ENSP00000234961:A275V	ENSP00000234961:A275V	A	+	2	0	OPRD1	29062087	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.643000	0.83403	2.097000	0.63578	0.462000	0.41574	GCG		0.672	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29189500	C	T	29189500	3	4	276	1	0	0	0	0	1	0	0	0	10884	768	27	1	834	1	OPRD1	1	29189500	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	12928508	29189500	220061121	3	19728											
PTPN22	26191	broad.mit.edu	37	chr1	114380721	114380721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattaaaatatcttcctGctgcatttacaggtttagaa	13	16	6	6	0	1	2	0	1	1	1	2	2	2	2	1	1	3	3	1	1	7	8			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:114380721G>A	ENST00000359785.5	-	13	1436	c.1301C>T	c.(1300-1302)gCa>gTa	p.A434V	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.A379V|PTPN22_ENST00000420377.2_Missense_Mutation_p.A434V|PTPN22_ENST00000538253.1_Missense_Mutation_p.A190V|PTPN22_ENST00000525799.1_Missense_Mutation_p.A307V	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	434					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATCTTCCTGCTGCATTTAC	0.408																																						uc001eds.3																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1300-1302)gCa>gTa		Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.							73	76	75					1																	114380721		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380721G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1301C>T	1.37:g.114380721G>A	ENSP00000352833:p.Ala434Val					PTPN22_uc021orx.1_Missense_Mutation_p.A434V|PTPN22_uc009wgq.3_Missense_Mutation_p.A379V|PTPN22_uc021ory.1_Missense_Mutation_p.A410V|PTPN22_uc010owo.2_Missense_Mutation_p.A190V|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.A434V|PTPN22_uc009wgs.2_Missense_Mutation_p.A307V|PTPN22_uc001edu.2_Missense_Mutation_p.A434V	p.A434V	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1431	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	434					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1301C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259726	0.39995	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.82	-2.45	0.06481	.	0.487586	0.20422	N	0.092642	T	0.12646	0.0307	M	0.67953	2.075	0.09310	N	0.999999	P;P;B;B;B;B	0.48089	0.905;0.839;0.236;0.006;0.376;0.236	P;B;B;B;B;B	0.45610	0.487;0.231;0.05;0.005;0.108;0.075	T	0.11567	-1.0582	10	0.40728	T	0.16	.	2.1004	0.03678	0.2695:0.2146:0.4062:0.1097	.	190;307;434;379;434;434	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	V	434;379;190;434;307;434	ENSP00000352833:A434V;ENSP00000435176:A379V;ENSP00000439372:A190V;ENSP00000388229:A434V;ENSP00000432674:A307V	ENSP00000346621:A434V	A	-	2	0	PTPN22	114182244	0.000000	0.05858	0.006000	0.13384	0.954000	0.61252	-0.054000	0.11826	-0.130000	0.11599	-0.793000	0.03317	GCA		0.408	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		A	114380721	G	A	114380721	3	1	276	1	0	0	0	0	1	0	0	0	12787	1319	46	3	1181	3	PTPN22	1	114380721	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	85191221	114380721	134869900	4	19729											
IGSF3	3321	broad.mit.edu	37	chr1	117142794	117142794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactggacccctccgtcccGggtgaaggtcaccaagtcat	8	7	10	16	2	2	1	2	1	0	0	4	2	4	2	6	3	0	0	6	3	2	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117142794G>A	ENST00000369486.3	-	7	2563	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	IGSF3_ENST00000369483.1_Missense_Mutation_p.R620W|IGSF3_ENST00000318837.6_Missense_Mutation_p.R620W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	600	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCGTCCCGGGTGAAGGTC	0.622																																						uc001egq.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1858-1860)Cgg>Tgg		Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.							26	26	26					1																	117142794		2203	4296	6499	SO:0001583	missense	3321					integral to membrane		g.chr1:117142794G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1798C>T	1.37:g.117142794G>A	ENSP00000358498:p.Arg600Trp					IGSF3_uc001egr.1_Missense_Mutation_p.R600W|IGSF3_uc001egs.1_Missense_Mutation_p.R273W	p.R620W	NM_001542	NP_001533	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2563	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	600			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1858C>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608398	0.87258	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02709	4.19;4.19;4.19	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.05823	0.0152	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.998;0.991	T	0.34576	-0.9823	10	0.87932	D	0	-44.441	14.8994	0.70666	0.0:0.0:1.0:0.0	.	620;600;620	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	W	600;620;620	ENSP00000358498:R600W;ENSP00000358495:R620W;ENSP00000321184:R620W	ENSP00000321184:R620W	R	-	1	2	IGSF3	116944317	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.144000	0.77357	2.354000	0.79902	0.455000	0.32223	CGG		0.622	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117142794	G	A	117142794	3	1	276	1	0	0	0	0	1	0	0	0	7601	1115	39	2	1806	2	IGSF3	1	117142794	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	2762073	117142794	132107827	5	19730											
VTCN1	79679	broad.mit.edu	37	chr1	117690323	117690323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaggcagaagtgcccagCtgatggcaaagaaagaagag	16	4	15	6	0	0	6	0	2	0	5	0	7	0	6	1	2	2	3	1	2	4	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117690323C>A	ENST00000369458.3	-	5	884	c.806G>T	c.(805-807)aGc>aTc	p.S269I	VTCN1_ENST00000328189.3_Missense_Mutation_p.S153I|VTCN1_ENST00000359008.4_Missense_Mutation_p.S272I|VTCN1_ENST00000539893.1_Missense_Mutation_p.S174I	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AAGTGCCCAGCTGATGGCAAA	0.448																																						uc001ehb.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(805-807)aGc>aTc		Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.							107	101	103					1																	117690323		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117690323C>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.806G>T	1.37:g.117690323C>A	ENSP00000358470:p.Ser269Ile					VTCN1_uc021osn.1_Missense_Mutation_p.S174I|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.S174I|VTCN1_uc009whf.2_Missense_Mutation_p.S153I	p.S269I	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	4	911	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	269						Missense_Mutation	SNP	ENST00000369458.3	37	c.806G>T	CCDS894.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390295	0.11581	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.23754	3.43;3.42;1.89;3.61	5.49	-7.67	0.01272	.	0.955501	0.08759	N	0.898029	T	0.03564	0.0102	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41716	-0.9493	10	0.62326	D	0.03	-9.0864	2.6195	0.04912	0.4287:0.1677:0.275:0.1286	.	153;269	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	I	269;272;153;174	ENSP00000358470:S269I;ENSP00000351899:S272I;ENSP00000328168:S153I;ENSP00000444724:S174I	ENSP00000328168:S153I	S	-	2	0	VTCN1	117491846	0.000000	0.05858	0.002000	0.10522	0.075000	0.17131	-2.127000	0.01315	-1.196000	0.02676	-0.838000	0.03060	AGC		0.448	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		A	117690323	C	A	117690323	3	1	276	1	0	0	0	0	1	0	0	0	17231	797	28	5	46	5	VTCN1	1	117690323	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	547529	117690323	131560298	6	19731											
C1orf110	339512	broad.mit.edu	37	chr1	162829260	162829260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagtcttaccttgctgcaaCctctgcagttctttttggag	8	15	8	10	0	3	0	0	0	3	0	3	1	3	1	2	1	5	4	2	1	3	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:162829260C>A	ENST00000367910.1	-	2	297	c.177G>T	c.(175-177)agG>agT	p.R59S	C1orf110_ENST00000367911.2_Missense_Mutation_p.R55S|C1orf110_ENST00000367912.2_Missense_Mutation_p.R59S	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	59										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTTGCTGCAACCTCTGCAGTT	0.547																																						uc001gck.2																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(175-177)agG>agT		Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.							82	82	82					1																	162829260		2008	4169	6177	SO:0001583	missense	339512							g.chr1:162829260C>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.177G>T	1.37:g.162829260C>A	ENSP00000356886:p.Arg59Ser					C1orf110_uc009wux.1_Missense_Mutation_p.R59S	p.R59S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			1	352	-			59					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.177G>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868718	0.17322	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.16	2.23	0.28157	.	0.264809	0.25762	N	0.028468	T	0.28699	0.0711	M	0.62723	1.935	0.23221	N	0.998095	P;P	0.46277	0.875;0.875	P;P	0.44811	0.461;0.461	T	0.15009	-1.0452	8	0.87932	D	0	-9.3601	5.5611	0.17144	0.0:0.6739:0.2135:0.1126	.	59;59	Q86UF4-2;Q86UF4	.;CA110_HUMAN	S	59;55;59	.	ENSP00000356886:R59S	R	-	3	2	C1orf110	161095884	0.062000	0.20869	0.782000	0.31804	0.003000	0.03518	0.208000	0.17415	0.484000	0.27630	-0.136000	0.14681	AGG		0.547	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		A	162829260	C	A	162829260	3	1	276	1	0	0	0	0	1	0	0	0	1983	506	18	5	743	5	C1orf110	1	162829260	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	45138937	162829260	86421361	7	19732											
CYB5R1	51706	broad.mit.edu	37	chr1	202932844	202932844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccggatcagctgtagcaTtggggtgattcctgcatgaa	8	10	14	9	1	1	2	1	2	0	0	2	3	2	3	2	4	3	4	2	4	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:202932844T>C	ENST00000367249.4	-	7	645	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	191					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGCTGTAGCATTGGGGTGATT	0.512																																						uc001gyt.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(571-573)Atg>Gtg		Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.							121	102	109					1																	202932844		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202932844T>C	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.571A>G	1.37:g.202932844T>C	ENSP00000356218:p.Met191Val					CYB5R1_uc010pqe.1_Non-coding_Transcript	p.M191V	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		6	642	-			191					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.571A>G	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287604	0.80803	.	.	ENSG00000159348	ENST00000367249	D	0.85955	-2.05	5.93	5.93	0.95920	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.73372	2.23	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.91010	0.4849	10	0.46703	T	0.11	-5.4911	14.3287	0.66537	0.0:0.0:0.0:1.0	.	191	Q9UHQ9	NB5R1_HUMAN	V	191	ENSP00000356218:M191V	ENSP00000356218:M191V	M	-	1	0	CYB5R1	201199467	1.000000	0.71417	0.962000	0.40283	0.998000	0.95712	7.613000	0.82986	2.263000	0.75096	0.533000	0.62120	ATG		0.512	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		C	202932844	T	C	202932844	3	2	276	1	0	0	0	0	1	0	0	0	4126	1493	52	4	358	4	CYB5R1	1	202932844	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	40103584	202932844	46317777	8	19733											
SMYD3	64754	broad.mit.edu	37	chr1	246078867	246078867	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacggaaacagtcacattCaaagcagtactggtccctca	14	7	8	12	1	3	0	3	0	0	0	4	1	4	1	1	2	4	3	1	2	4	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:246078867C>A	ENST00000388985.4	-	8	777	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	SMYD3_ENST00000541742.1_Nonsense_Mutation_p.E201*|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Nonsense_Mutation_p.E201*			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	260					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAGTCACATTCAAAGCAGTAC	0.512																																						uc001ibl.3																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(778-780)Gaa>Taa		Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.							145	119	128					1																	246078867		2203	4300	6503	SO:0001587	stop_gained	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246078867C>A	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.778G>T	1.37:g.246078867C>A	ENSP00000373637:p.Glu260*					SMYD3_uc001ibk.3_Nonsense_Mutation_p.E201*|SMYD3_uc001ibj.3_Nonsense_Mutation_p.E71*	p.E260*	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	7	903	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	260					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Nonsense_Mutation	SNP	ENST00000388985.4	37	c.778G>T	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	37	6.195337	0.97367	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	.	.	.	5.97	5.06	0.68205	.	0.583349	0.18727	N	0.132851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.9132	12.6266	0.56634	0.1654:0.8346:0.0:0.0	.	.	.	.	X	201;201;90;260;71	.	ENSP00000373637:E260X	E	-	1	0	SMYD3	244145490	0.994000	0.37717	0.854000	0.33618	0.938000	0.57974	2.093000	0.41710	1.519000	0.48950	0.655000	0.94253	GAA		0.512	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		A	246078867	C	A	246078867	4	1	276	1	0	0	0	0	0	1	0	0	14823	835	29	5	528	5	SMYD3	1	246078867	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	43146023	246078867	3171754	9	19734											
SEMA4F	10505	broad.mit.edu	37	chr2	74900663	74900663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcagtgggtcgtgccgaGgactggattcggacagatac	10	7	16	8	3	0	2	0	0	0	2	2	6	0	5	1	4	3	1	1	4	1	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:74900663G>A	ENST00000357877.2	+	6	779	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGTGCCGAGGACTGGATTC	0.612																																						uc002sna.1																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(628-630)gaG>gaA		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.							69	62	64					2																	74900663		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900663G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.630G>A	2.37:g.74900663G>A						SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.E210E|SEMA4F_uc010ffq.1_Silent_p.E177E|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.E210E	NM_004263	NP_004254	O95754	SEM4F_HUMAN			5	741	+			210			Sema.		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.630G>A	CCDS1955.1																																																																																				0.612	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74900663	G	A	74900663	2	1	276	1	0	0	0	0	0	0	0	1	14035	991	35	3		3	SEMA4F	2	74900663	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		74900663	168298710	10	19735											
REV1	51455	broad.mit.edu	37	chr2	100065960	100065960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttttctcaattcctcagcgGaaggatctgcaaaatttata	12	14	7	8	1	3	0	2	0	2	0	5	2	4	2	1	2	2	2	1	2	6	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:100065960G>C	ENST00000258428.3	-	4	416	c.188C>G	c.(187-189)tCc>tGc	p.S63C	REV1_ENST00000393445.3_Missense_Mutation_p.S63C|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	63	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCTCAGCGGAAGGATCTGC	0.313								Direct reversal of damage																														uc002tad.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(187-189)tCc>tGc	Direct reversal of damage	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.							67	69	68					2																	100065960		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100065960G>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.188C>G	2.37:g.100065960G>C	ENSP00000258428:p.Ser63Cys					REV1_uc002tac.3_Missense_Mutation_p.S63C|REV1_uc002tae.1_Missense_Mutation_p.S42C	p.S63C	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			3	400	-			63			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.188C>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285818	0.80803	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.80033	-1.33;-1.33	6.07	6.07	0.98685	BRCT (4);	0.142736	0.64402	D	0.000007	D	0.91851	0.7421	M	0.88906	2.99	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75020	0.985;0.971;0.967	D	0.92040	0.5640	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	42;63;63	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	C	63	ENSP00000377091:S63C;ENSP00000258428:S63C	ENSP00000258428:S63C	S	-	2	0	REV1	99432392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.916000	0.75776	2.885000	0.99019	0.655000	0.94253	TCC		0.313	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		C	100065960	G	C	100065960	3	2	276	1	0	0	0	0	1	0	0	0	13239	1174	41	5	3647	5	REV1	2	100065960	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	25165297	100065960	143133413	11	19736											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530548	125530548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaccagggagacgtcGgaggagggccattttcgact	10	6	16	9	3	0	1	0	0	0	1	2	6	0	4	2	5	1	1	2	5	0	2	rs536438687		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:125530548G>A	ENST00000431078.1	+	17	3067	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	901	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGAGACGTCGGAGGAGGGCC	0.532													g|||	1	0.000199681	8e-04	0	5008	,	,		17184	0		0	False		,,,				2504	0					uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2704-2706)tcG>tcA		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							125	119	121					2																	125530548		1925	4133	6058	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530548G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2703G>A	2.37:g.125530548G>A						CNTNAP5_uc002tno.3_Silent_p.S901S	p.S902S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	3070	+			901			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2706G>A	CCDS46401.1																																																																																				0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125530548	G	A	125530548	2	1	276	1	0	0	0	0	0	0	0	1	3650	1103	39	2		2	CNTNAP5	2	125530548	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	25464588	125530548	117668825	12	19737											
TTN	7273	broad.mit.edu	37	chr2	179458769	179458769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatttgccggaatctgaacGtttggccttgatcttctcta	7	16	9	9	2	3	2	0	2	3	0	4	3	3	3	2	2	2	2	2	2	4	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179458769G>A	ENST00000591111.1	-	247	53652	c.53428C>T	c.(53428-53430)Cgt>Tgt	p.R17810C	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10578C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10386C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16883C|TTN_ENST00000589042.1_Missense_Mutation_p.R19451C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10511C			Q8WZ42	TITIN_HUMAN	titin	17810	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTGAACGTTTGGCCTTG	0.423																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50647-50649)Cgt>Tgt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							181	177	178					2																	179458769		2022	4191	6213	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458769G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53428C>T	2.37:g.179458769G>A	ENSP00000465570:p.Arg17810Cys					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578C|TTN_uc021vta.1_Missense_Mutation_p.R10511C|TTN_uc021vtb.1_Missense_Mutation_p.R10386C	p.R16883C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50872	-			17810			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50647C>T		.	.	.	.	.	.	.	.	.	.	G	14.66	2.602997	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71065	0.3296	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78427	-0.2208	9	0.87932	D	0	.	16.9799	0.86324	0.0:0.0:0.8638:0.1362	.	10386;10511;10578;17810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	16883;10386;10578;10511;10384	ENSP00000343764:R16883C;ENSP00000434586:R10386C;ENSP00000340554:R10578C;ENSP00000352154:R10511C	ENSP00000340554:R10578C	R	-	1	0	TTN	179167015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.544000	0.49359	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179458769	G	A	179458769	3	1	276	1	0	0	0	0	1	0	0	0	16732	1145	40	1	49892	1	TTN	2	179458769	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	53928221	179458769	63740604	13	19738											
CCDC141	285025	broad.mit.edu	37	chr2	179720232	179720232	+	Frame_Shift_Del	DEL	T	T	-																															atttaagaaagaatcagaggTtttattactaactttttcca																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179720232delT	ENST00000420890.2	-	19	3019	c.2902delA	c.(2902-2904)accfs	p.T968fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.T393fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	968										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAATCAGAGGTTTTATTACTA	0.284																																						uc002une.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2902-2904)accfs		Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.							62	66	64					2																	179720232		2202	4300	6502	SO:0001589	frameshift_variant	285025						protein binding	g.chr2:179720232delT	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2902delA	2.37:g.179720232delT	ENSP00000395995:p.Thr968fs					CCDC141_uc002unf.1_Frame_Shift_Del_p.T447fs	p.T968fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		18	3020	-			393					H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Del	DEL	ENST00000420890.2	37	c.2902delA																																																																																					0.284	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		-	179720232	T	-	179720232	7	5	276	1	0	1	0	1	0	0	0	0	2775	1725	60	0	1470	0	CCDC141	2	179720232	Frame_Shift_Del	DEL	T	TCGA-76-6660-01A-11D-1845-08	261463	179720232	63479141	14	19739											
WDR75	84128	broad.mit.edu	37	chr2	190313200	190313200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacagaaatctggtgaCtggaatccagcttaacccca	13	8	9	11	0	1	2	0	1	1	1	2	4	2	4	3	3	2	1	3	3	3	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:190313200C>T	ENST00000314761.4	+	2	242	c.182C>T	c.(181-183)aCt>aTt	p.T61I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	61						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATCTGGTGACTGGAATCCAG	0.398																																						uc002uql.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(181-183)aCt>aTt		Homo sapiens WD repeat domain 75 (WDR75), mRNA.							143	128	133					2																	190313200		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190313200C>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.182C>T	2.37:g.190313200C>T	ENSP00000314193:p.Thr61Ile					WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	p.T61I	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		1	242	+			61					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.182C>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622270	0.87460	.	.	ENSG00000115368	ENST00000314761	T	0.63255	-0.03	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054481	0.64402	D	0.000001	T	0.69305	0.3096	M	0.64170	1.965	0.58432	D	0.999997	P	0.43885	0.82	P	0.49421	0.61	T	0.64188	-0.6466	10	0.27082	T	0.32	-17.0589	18.0094	0.89218	0.0:1.0:0.0:0.0	.	61	Q8IWA0	WDR75_HUMAN	I	61	ENSP00000314193:T61I	ENSP00000314193:T61I	T	+	2	0	WDR75	190021445	1.000000	0.71417	0.941000	0.38009	0.987000	0.75469	4.929000	0.63455	2.789000	0.95967	0.655000	0.94253	ACT		0.398	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		T	190313200	C	T	190313200	3	4	276	1	0	0	0	0	1	0	0	0	17322	565	20	3	188	3	WDR75	2	190313200	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	10592968	190313200	52886173	15	19740											
TRIP12	9320	broad.mit.edu	37	chr2	230683176	230683176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaataactgcctgaagctgTtgactttcatcactggcttg	9	14	8	10	0	3	2	3	2	0	0	3	2	3	2	1	1	3	3	1	1	3	4	rs201680858		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:230683176T>C	ENST00000283943.5	-	8	1537	c.1359A>G	c.(1357-1359)caA>caG	p.Q453Q	TRIP12_ENST00000389045.3_Silent_p.Q156Q|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Silent_p.Q501Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	453					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCTGAAGCTGTTGACTTTCAT	0.388																																						uc002vpx.1																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1501-1503)caA>caG		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							135	133	134					2																	230683176		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230683176T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1359A>G	2.37:g.230683176T>C						TRIP12_uc021vxw.1_Silent_p.Q459Q|TRIP12_uc002vpy.1_Silent_p.Q156Q|TRIP12_uc002vpw.1_Silent_p.Q453Q|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.Q459Q	p.Q501Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	8	1612	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	453					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.1503A>G	CCDS33391.1																																																																																				0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230683176	T	C	230683176	2	2	276	1	0	0	0	0	0	0	0	1	16553	1722	60	4		4	TRIP12	2	230683176	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	40369976	230683176	12516197	16	19741											
ILKAP	80895	broad.mit.edu	37	chr2	239079263	239079263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcctgttgcaggctgCttcgtagcgggcgtcggctg	3	9	17	12	4	0	0	0	0	0	0	2	0	0	0	2	4	4	6	2	4	1	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:239079263C>T	ENST00000254654.3	-	12	1268	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	365	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCAGGCTGCTTCGTAGCGG	0.637																																						uc002vxv.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1093-1095)Gca>Aca		Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.							46	46	46					2																	239079263		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239079263C>T	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1093G>A	2.37:g.239079263C>T	ENSP00000254654:p.Ala365Thr					ILKAP_uc010zns.2_Missense_Mutation_p.A297T|ILKAP_uc002vxw.3_Missense_Mutation_p.A245T|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.A247T	p.A365T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	11	1223	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	365			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.1093G>A	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930578	0.52866	.	.	ENSG00000132323	ENST00000254654	T	0.16457	2.34	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.048558	0.85682	D	0.000000	T	0.12774	0.0310	L	0.28115	0.83	0.80722	D	1	B	0.26318	0.146	B	0.29353	0.101	T	0.13548	-1.0505	10	0.12430	T	0.62	-2.3445	13.5499	0.61726	0.156:0.844:0.0:0.0	.	365	Q9H0C8	ILKAP_HUMAN	T	365	ENSP00000254654:A365T	ENSP00000254654:A365T	A	-	1	0	ILKAP	238744002	1.000000	0.71417	0.943000	0.38184	0.987000	0.75469	4.229000	0.58625	2.688000	0.91661	0.563000	0.77884	GCA		0.637	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		T	239079263	C	T	239079263	3	4	276	1	0	0	0	0	1	0	0	0	7714	797	28	3	89	3	ILKAP	2	239079263	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	8396087	239079263	4120110	17	19742											
CNTN4	152330	broad.mit.edu	37	chr3	3076439	3076439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtcattcaagccaggaCtccattctccgtgggctggc	7	11	11	12	1	3	0	2	0	1	0	5	1	4	1	3	3	1	2	3	3	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:3076439C>T	ENST00000397461.1	+	16	2291	c.1907C>T	c.(1906-1908)aCt>aTt	p.T636I	CNTN4_ENST00000397459.2_Missense_Mutation_p.T308I|CNTN4_ENST00000358480.3_Missense_Mutation_p.T417I|CNTN4_ENST00000418658.1_Missense_Mutation_p.T636I|CNTN4_ENST00000448906.2_Missense_Mutation_p.T308I|CNTN4_ENST00000427331.1_Missense_Mutation_p.T636I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	636	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGCCAGGACTCCATTCTCC	0.532																																						uc003bpc.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1906-1908)aCt>aTt		Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.							140	109	120					3																	3076439		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3076439C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1907C>T	3.37:g.3076439C>T	ENSP00000380602:p.Thr636Ile					CNTN4_uc003bpb.1_Missense_Mutation_p.T307I|CNTN4_uc021wsg.1_Missense_Mutation_p.T636I|CNTN4_uc003bpd.1_Missense_Mutation_p.T636I|CNTN4_uc003bpe.3_Missense_Mutation_p.T308I|CNTN4_uc003bpf.3_Missense_Mutation_p.T307I	p.T636I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2246	+		Ovarian(110;0.156)	636			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1907C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585083	0.86748	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73401	0.3582	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.988;0.985;0.997	T	0.78922	-0.2013	10	0.87932	D	0	.	17.0894	0.86618	0.0:1.0:0.0:0.0	.	635;636;636	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	I	636;636;636;417;308;308	ENSP00000396010:T636I;ENSP00000380602:T636I;ENSP00000413642:T636I;ENSP00000351267:T417I;ENSP00000380600:T308I;ENSP00000392077:T308I	ENSP00000351267:T417I	T	+	2	0	CNTN4	3051439	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.600000	0.82769	2.086000	0.62901	0.563000	0.77884	ACT		0.532	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			T	3076439	C	T	3076439	3	4	276	1	0	0	0	0	1	0	0	0	3643	565	20	3	1961	3	CNTN4	3	3076439	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		3076439	194945991	18	19743											
ITIH4	3700	broad.mit.edu	37	chr3	52853785	52853785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccttgtctattccatcCtcttcttggagaaaaggaag	11	13	7	10	0	3	1	0	0	3	1	5	3	5	2	3	2	1	0	3	2	5	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:52853785C>T	ENST00000266041.4	-	16	2032	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	ITIH4_ENST00000485816.1_Missense_Mutation_p.G651R|ITIH4_ENST00000346281.5_Intron|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	646					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTATTCCATCCTCTTCTTGGA	0.547																																						uc011bem.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1951-1953)Gga>Aga		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.							151	163	159					3																	52853785		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52853785C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1936G>A	3.37:g.52853785C>T	ENSP00000266041:p.Gly646Arg					ITIH4_uc011bel.2_Intron|ITIH4_uc003dfy.3_Intron|ITIH4_uc003dfz.3_Missense_Mutation_p.G646R|ITIH4_uc011ben.2_Intron	p.G651R	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	15	1979	-			646					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1951G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	0.176	-1.066620	0.01934	.	.	ENSG00000055955	ENST00000266041;ENST00000485816	T;T	0.01705	4.91;4.68	3.21	-3.83	0.04269	.	2.985060	0.01846	U	0.035626	T	0.01695	0.0054	L	0.29908	0.895	0.09310	N	1	B;P	0.46277	0.003;0.875	B;B	0.39706	0.001;0.307	T	0.42155	-0.9468	10	0.33940	T	0.23	0.0282	5.5574	0.17123	0.0:0.2796:0.1559:0.5645	.	651;646	B7ZKJ8;Q14624	.;ITIH4_HUMAN	R	646;651	ENSP00000266041:G646R;ENSP00000417824:G651R	ENSP00000266041:G646R	G	-	1	0	ITIH4	52828825	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.240000	0.08952	-1.027000	0.03325	-0.379000	0.06801	GGA		0.547	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52853785	C	T	52853785	3	4	276	1	0	0	0	0	1	0	0	0	7906	690	24	3	892	3	ITIH4	3	52853785	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	49777346	52853785	145168645	19	19744											
ROBO1	6091	broad.mit.edu	37	chr3	78683176	78683176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatagttggaggaactgtGtcatttgctcgataatctag	10	13	13	5	1	2	0	1	0	1	0	3	4	2	3	0	3	2	2	0	3	4	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:78683176G>A	ENST00000464233.1	-	24	3503	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	ROBO1_ENST00000495273.1_Silent_p.D1085D|ROBO1_ENST00000467549.1_Silent_p.D1030D|ROBO1_ENST00000436010.2_Silent_p.D1091D	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1130					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGAACTGTGTCATTTGCTC	0.393																																						uc003dqe.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3388-3390)gaC>gaT		Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.							238	222	227					3																	78683176		1902	4128	6030	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78683176G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3390C>T	3.37:g.78683176G>A						ROBO1_uc003dqc.2_Silent_p.D1030D|ROBO1_uc003dqd.2_Silent_p.D1085D|ROBO1_uc003dqb.2_Silent_p.D1091D|ROBO1_uc010hoh.2_Silent_p.D322D|ROBO1_uc011bgl.1_Silent_p.D702D	p.D1130D	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	23	3598	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1130					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.3390C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	8.278	0.814902	0.16607	.	.	ENSG00000169855	ENST00000472273	.	.	.	5.82	0.378	0.16204	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55082	-0.8196	4	.	.	.	.	11.7021	0.51577	0.4045:0.0:0.5954:0.0	.	.	.	.	I	57	.	.	T	-	2	0	ROBO1	78765866	1.000000	0.71417	0.947000	0.38551	0.877000	0.50540	0.947000	0.29082	0.109000	0.17891	0.655000	0.94253	ACA		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78683176	G	A	78683176	2	1	276	1	0	0	0	0	0	0	0	1	13513	1368	48	3		3	ROBO1	3	78683176	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	25829391	78683176	119339254	20	19745											
ARL6	84100	broad.mit.edu	37	chr3	97499015	97499015	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttaaaggctcaatctcaaAatatccttccaacaatagga	16	11	4	10	0	3	0	2	0	2	0	6	1	5	1	2	2	1	1	2	2	9	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:97499015A>T	ENST00000463745.1	+	3	613	c.136A>T	c.(136-138)Aat>Tat	p.N46Y	ARL6_ENST00000335979.2_Missense_Mutation_p.N46Y|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.N46Y	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	46					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCAATCTCAAAATATCCTTCC	0.308																																						uc003drv.3																			0				large_intestine(1)|lung(4)	5						c.(136-138)Aat>Tat		Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.							69	72	71					3																	97499015		2202	4299	6501	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499015A>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.136A>T	3.37:g.97499015A>T	ENSP00000419619:p.Asn46Tyr					ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.N46Y|ARL6_uc010hoy.3_Missense_Mutation_p.N46Y	p.N46Y	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	3	449	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	46					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.136A>T	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636443	0.47049	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.46	4.55	0.56014	Small GTP-binding protein domain (1);	0.239830	0.48286	D	0.000194	T	0.52273	0.1724	L	0.46157	1.445	0.34524	D	0.708435	P	0.46912	0.886	B	0.36092	0.217	T	0.68981	-0.5266	10	0.72032	D	0.01	.	13.2943	0.60288	0.0772:0.0:0.9228:0.0	.	46	Q9H0F7	ARL6_HUMAN	Y	46	ENSP00000419619:N46Y;ENSP00000418740:N46Y;ENSP00000337722:N46Y;ENSP00000377756:N46Y	ENSP00000337722:N46Y	N	+	1	0	ARL6	98981705	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.275000	0.78548	1.300000	0.44818	-0.301000	0.09380	AAT		0.308	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		T	97499015	A	T	97499015	3	4	276	1	0	0	0	0	1	0	0	0	941	14	1	5	142	5	ARL6	3	97499015	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	18815839	97499015	100523415	21	19746											
NPHP3	27031	broad.mit.edu	37	chr3	132432101	132432101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatatcccattgtctcGcacattctcttaagtttagg	13	14	5	9	1	2	0	0	0	2	0	5	0	3	0	1	1	0	2	1	1	6	6	rs138124482		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:132432101G>A	ENST00000337331.5	-	6	1073	c.987C>T	c.(985-987)tgC>tgT	p.C329C	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Silent_p.C329C	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	329					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTGTCTCGCACATTCTCT	0.289																																						uc003epe.2																			0		p.M328L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(985-987)tgC>tgT		Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.		G		1,4395	2.1+/-5.4	0,1,2197	44	45	45		987	-1	1	3	dbSNP_134	45	0,8544		0,0,4272	no	coding-synonymous	NPHP3	NM_153240.4		0,1,6469	AA,AG,GG		0.0,0.0227,0.0077		329/1331	132432101	1,12939	2198	4272	6470	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132432101G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.987C>T	3.37:g.132432101G>A						NPHP3_uc003epf.2_Silent_p.C84C	p.C329C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			5	1091	-			329					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.987C>T	CCDS3078.1																																																																																				0.289	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		A	132432101	G	A	132432101	2	1	276	1	0	0	0	0	0	0	0	1	10580	1079	38	1		1	NPHP3	3	132432101	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	34933086	132432101	65590329	22	19747											
KIAA0226	9711	broad.mit.edu	37	chr3	197431552	197431552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagcactgctctggtcGttctcgtgcacgctgatgaa	7	11	10	13	3	3	2	1	2	2	0	5	2	3	2	1	1	3	5	1	1	1	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:197431552G>A	ENST00000296343.5	-	4	323	c.324C>T	c.(322-324)aaC>aaT	p.N108N	KIAA0226_ENST00000273582.5_Silent_p.N48N|KIAA0226_ENST00000389665.5_Silent_p.N108N|KIAA0226_ENST00000449205.1_Silent_p.N108N|KIAA0226_ENST00000467303.1_5'UTR	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	108	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTCTGGTCGTTCTCGTGCA	0.567																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(322-324)aaC>aaT		Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.							51	52	52					3																	197431552		2119	4253	6372	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431552G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.324C>T	3.37:g.197431552G>A						KIAA0226_uc003fyd.3_Silent_p.N48N|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Silent_p.N101N	p.N108N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	3	507	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		108			RUN.		Q96CK5	Silent	SNP	ENST00000296343.5	37	c.324C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	1.245	-0.620230	0.03636	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	-4.94	0.03057	.	.	.	.	.	.	.	.	.	.	.	0.24954	N	0.991776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6461	0.56735	0.3055:0.0:0.5955:0.0989	.	.	.	.	X	87	.	.	R	-	1	2	KIAA0226	198915949	0.000000	0.05858	0.009000	0.14445	0.261000	0.26267	-2.256000	0.01181	-1.145000	0.02858	-0.323000	0.08544	CGA		0.567	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		A	197431552	G	A	197431552	2	1	276	1	0	0	0	0	0	0	0	1	8162	1136	40	1		1	KIAA0226	3	197431552	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	64999451	197431552	590878	23	19748											
TACC3	10460	broad.mit.edu	37	chr4	1729779	1729779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacaaagcggagactcCgcacggagccgaggaagaat	14	2	13	12	4	0	2	0	0	0	2	1	6	1	4	3	3	3	2	3	3	3	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:1729779C>T	ENST00000313288.4	+	4	756	c.650C>T	c.(649-651)cCg>cTg	p.P217L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	217					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCGGAGACTCCGCACGGAGCC	0.597																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(649-651)cCg>cTg		Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.							25	29	28					4																	1729779		2203	4298	6501	SO:0001583	missense	10460					centrosome		g.chr4:1729779C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.650C>T	4.37:g.1729779C>T	ENSP00000326550:p.Pro217Leu					TACC3_uc010ibz.3_Missense_Mutation_p.P217L|TACC3_uc003gdp.3_Intron	p.P217L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		3	805	+		Breast(71;0.212)|all_epithelial(65;0.241)	217					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.650C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117457	0.37339	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.61742	1.93;0.08;0.15	4.45	3.61	0.41365	.	0.517714	0.15246	N	0.272585	T	0.45357	0.1338	L	0.37561	1.115	0.19775	N	0.999951	B;B	0.31100	0.308;0.205	B;B	0.26202	0.067;0.021	T	0.37888	-0.9686	10	0.54805	T	0.06	.	10.3063	0.43683	0.0:0.9065:0.0:0.0935	.	217;217	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	L	217	ENSP00000326550:P217L;ENSP00000418095:P217L;ENSP00000415914:P217L	ENSP00000326550:P217L	P	+	2	0	TACC3	1699577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.191000	0.17076	0.999000	0.39023	-0.244000	0.11960	CCG		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1729779	C	T	1729779	3	4	276	1	0	0	0	0	1	0	0	0	15500	652	23	2	660	2	TACC3	4	1729779	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		1729779	189424497	24	19749											
SLIT2	9353	broad.mit.edu	37	chr4	20597371	20597371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgacatcgattttgaCgactgccaagacaacaagtg	13	8	9	11	3	0	2	0	1	0	1	1	5	0	2	1	0	3	0	1	0	3	2	rs573018203		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:20597371C>T	ENST00000504154.1	+	31	3486	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_ENST00000503823.1_Silent_p.D1070D|SLIT2_ENST00000273739.5_Silent_p.D1091D|SLIT2_ENST00000503837.1_Silent_p.D1074D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1078	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.D1078D(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		17933	0		0	False		,,,				2504	0					uc003gpr.1																			1	Substitution - coding silent(1)	p.D1078D(2)	central_nervous_system(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3232-3234)gaC>gaT		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							211	195	200					4																	20597371		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597371C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3234C>T	4.37:g.20597371C>T						SLIT2_uc003gps.1_Silent_p.D1070D	p.D1078D	NM_004787	NP_004778	O94813	SLIT2_HUMAN			30	3438	+			1078			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3234C>T	CCDS3426.1																																																																																				0.468	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			T	20597371	C	T	20597371	2	4	276	1	0	0	0	0	0	0	0	1	14740	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	18867592	20597371	170556905	25	19750											
PALLD	23022	broad.mit.edu	37	chr4	169845564	169845564	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcactcacagcactgacCgagtgaggtaagactgcaca	13	6	9	13	1	2	3	2	2	0	1	2	4	2	3	1	1	2	3	1	1	1	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:169845564C>T	ENST00000505667.1	+	19	3390	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	PALLD_ENST00000261509.6_Nonsense_Mutation_p.R1056*|PALLD_ENST00000512127.1_Nonsense_Mutation_p.R674*|PALLD_ENST00000507735.1_Nonsense_Mutation_p.R569*|PALLD_ENST00000335742.7_Nonsense_Mutation_p.R898*|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1280	Ig-like C2-type 3.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGACCGAGTGAGGTA	0.418									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(3217-3219)Cga>Tga		Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.							89	83	85					4																	169845564		2203	4300	6503	SO:0001587	stop_gained	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169845564C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3217C>T	4.37:g.169845564C>T	ENSP00000425556:p.Arg1073*					CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Nonsense_Mutation_p.R1056*|PALLD_uc003irv.3_Nonsense_Mutation_p.R674*|PALLD_uc003irw.3_Nonsense_Mutation_p.R569*|PALLD_uc003irx.3_Nonsense_Mutation_p.R282*	p.R1073*	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	18	3428	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1280			Ig-like C2-type 3.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Nonsense_Mutation	SNP	ENST00000505667.1	37	c.3217C>T	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.215077|8.215077	0.98709|0.98709	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000503290|ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	.|.	.|.	.|.	5.44|5.44	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.27856	.|U	.|0.017580	T|.	0.40645|.	0.1125|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26395|.	-1.0104|.	4|.	.|0.02654	.|T	.|1	.|.	13.8088|13.8088	0.63250|0.63250	0.4404:0.5596:0.0:0.0|0.4404:0.5596:0.0:0.0	.|.	.|.	.|.	.|.	L|X	109|1056;898;1073;674;569	.|.	.|ENSP00000261509:R1056X	P|R	+|+	2|1	0|2	PALLD|PALLD	170082139|170082139	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	1.425000|1.425000	0.34859|0.34859	1.256000|1.256000	0.44068|0.44068	0.585000|0.585000	0.79938|0.79938	CCG|CGA		0.418	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		T	169845564	C	T	169845564	4	4	276	1	0	0	0	0	0	1	0	0	11407	644	23	2	3794	2	PALLD	4	169845564	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	149248193	169845564	21308712	26	19751											
EDIL3	10085	broad.mit.edu	37	chr5	83402578	83402578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagtccaaaaagagctcgGtgagtagaggaagctgtgat	13	8	15	5	1	0	4	0	2	0	2	2	6	1	6	1	3	2	3	1	3	4	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:83402578G>T	ENST00000296591.5	-	6	958	c.540C>A	c.(538-540)caC>caA	p.H180Q	EDIL3_ENST00000380138.3_Missense_Mutation_p.H170Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	180	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.H180H(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AAAGAGCTCGGTGAGTAGAGG	0.418																																						uc003kio.1																			1	Substitution - coding silent(1)	p.H180H(2)	endometrium(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(538-540)caC>caA		Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.							189	199	196					5																	83402578		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83402578G>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.540C>A	5.37:g.83402578G>T	ENSP00000296591:p.His180Gln					EDIL3_uc003kip.1_Missense_Mutation_p.H170Q	p.H180Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	5	959	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	180			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.540C>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743798	0.69418	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98060	-4.69;-4.69	5.76	2.99	0.34606	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.142496	0.64402	D	0.000005	D	0.97455	0.9167	L	0.45285	1.41	0.54753	D	0.999985	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.958	D	0.96903	0.9661	10	0.72032	D	0.01	-24.5289	10.2356	0.43282	0.3227:0.0:0.6773:0.0	.	170;180	O43854-2;O43854	.;EDIL3_HUMAN	Q	180;170	ENSP00000296591:H180Q;ENSP00000369483:H170Q	ENSP00000296591:H180Q	H	-	3	2	EDIL3	83438334	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.860000	0.39428	0.782000	0.33613	-0.143000	0.13931	CAC		0.418	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		T	83402578	G	T	83402578	3	4	276	1	0	0	0	0	1	0	0	0	4915	1252	44	5	926	5	EDIL3	5	83402578	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		83402578	97512682	27	19752											
WDR36	134430	broad.mit.edu	37	chr5	110461398	110461398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgattgtggtgggtccataGaagttatgcagagcttcttg	8	14	13	6	0	1	3	0	1	1	2	2	3	2	3	1	2	2	3	1	2	3	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:110461398G>C	ENST00000513710.2	+	22	2615	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	WDR36_ENST00000506538.2_Missense_Mutation_p.E871Q			Q8NI36	WDR36_HUMAN	WD repeat domain 36	871					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGGTCCATAGAAGTTATGCA	0.443																																						uc003kpd.3																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2611-2613)Gaa>Caa		Homo sapiens WD repeat domain 36 (WDR36), mRNA.							138	133	135					5																	110461398		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110461398G>C	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2611G>C	5.37:g.110461398G>C	ENSP00000424628:p.Glu871Gln					WDR36_uc010jbu.3_Non-coding_Transcript	p.E871Q	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	21	2728	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	871					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2611G>C	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006251	0.07773	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.77620	-1.11;-1.11	5.06	4.17	0.49024	Small-subunit processome, Utp21 (1);	0.334449	0.36409	N	0.002612	T	0.74574	0.3734	L	0.56769	1.78	0.45076	D	0.998094	B	0.13594	0.008	B	0.17722	0.019	T	0.75065	-0.3449	10	0.87932	D	0	-7.4579	14.382	0.66916	0.0754:0.0:0.9246:0.0	.	871	Q8NI36	WDR36_HUMAN	Q	871	ENSP00000423067:E871Q;ENSP00000424628:E871Q	ENSP00000423067:E871Q	E	+	1	0	WDR36	110489297	0.968000	0.33430	0.103000	0.21229	0.391000	0.30476	2.382000	0.44345	2.505000	0.84491	0.585000	0.79938	GAA		0.443	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		C	110461398	G	C	110461398	3	2	276	1	0	0	0	0	1	0	0	0	17287	943	33	5	2697	5	WDR36	5	110461398	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	27058820	110461398	70453862	28	19753											
GABRA1	2554	broad.mit.edu	37	chr5	161300157	161300157	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttttccgtcaaagctGgaaggatgaaaggttaaaat	14	13	10	4	1	1	1	1	1	0	0	2	3	2	3	1	3	1	3	1	3	6	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:161300157G>A	ENST00000428797.2	+	6	645	c.290G>A	c.(289-291)tGg>tAg	p.W97*	GABRA1_ENST00000420560.1_Nonsense_Mutation_p.W97*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.W97*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.W97*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.W97*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.W97*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	97					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGTCAAAGCTGGAAGGATGAA	0.363																																						uc010jiw.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(289-291)tGg>tAg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						95	101	99					5																	161300157		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300157G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.290G>A	5.37:g.161300157G>A	ENSP00000393097:p.Trp97*					GABRA1_uc010jix.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.W97*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.W97*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jja.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.W97*	p.W97*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	5	758	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	97					D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.290G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	39	7.808583	0.98501	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	.	.	.	5.75	5.75	0.90469	.	0.120261	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000023897:W97X	W	+	2	0	GABRA1	161232735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.717000	0.92951	0.585000	0.79938	TGG		0.363	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161300157	G	A	161300157	4	1	276	1	0	0	0	0	0	1	0	0	6160	1357	47	3	304	3	GABRA1	5	161300157	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	50838759	161300157	19615103	29	19754											
N4BP3	23138	broad.mit.edu	37	chr5	177547670	177547670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaagaggggccttggCgatgaggacggctccaaccc	9	5	15	12	2	1	2	1	1	0	1	2	5	2	3	3	5	2	2	3	5	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:177547670C>T	ENST00000274605.5	+	3	1181	c.822C>T	c.(820-822)ggC>ggT	p.G274G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	274						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCCTTGGCGATGAGGACG	0.662																																						uc003mik.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(820-822)ggC>ggT		Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.							22	22	22					5																	177547670		2202	4300	6502	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547670C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.822C>T	5.37:g.177547670C>T						N4BP3_uc003mil.1_5'Flank	p.G274G	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1069	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	274					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.822C>T	CCDS34307.1																																																																																				0.662	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		T	177547670	C	T	177547670	2	4	276	1	0	0	0	0	0	0	0	1	10113	755	27	1		1	N4BP3	5	177547670	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	16247513	177547670	3367590	30	19755											
BTN2A2	10385	broad.mit.edu	37	chr6	26385257	26385257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcccagtttactgtcGtggggccagctaatcccatc	9	9	10	13	1	0	0	0	0	0	0	3	1	1	0	3	2	4	2	3	2	3	3	rs143653188	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:26385257G>A	ENST00000356709.4	+	3	220	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	BTN2A2_ENST00000469230.1_Missense_Mutation_p.V37M|BTN2A2_ENST00000416795.2_Missense_Mutation_p.V37M|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.V37M	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	37	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GTTTACTGTCGTGGGGCCAGC	0.463													G|||	6	0.00119808	0.0045	0	5008	,	,		20858	0		0	False		,,,				2504	0					uc003nht.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(109-111)Gtg>Atg		Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.		G	MET/VAL,MET/VAL,,MET/VAL,MET/VAL,	14,4392	21.2+/-45.6	0,14,2189	83	67	72		109,109,,109,109,	-2.1	0.7	6	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,intron,missense,missense,intron	BTN2A2	NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2	21,21,,21,21,	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging,	37/524,37/337,,37/257,37/524,	26385257	14,12992	2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385257G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.109G>A	6.37:g.26385257G>A	ENSP00000349143:p.Val37Met					BTN2A2_uc003nhs.3_Missense_Mutation_p.V37M|BTN2A2_uc011dkf.2_Intron|BTN2A2_uc003nhq.3_Missense_Mutation_p.V37M|BTN2A2_uc003nhr.3_Intron|BTN2A2_uc011dkh.2_Intron|BTN2A2_uc011dkg.2_Missense_Mutation_p.V37M	p.V37M	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN			2	242	+			37			Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.109G>A	CCDS4606.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	10.12	1.263258	0.23051	0.003177	0.0	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;4.08	3.63	-2.06	0.07298	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.544560	0.03948	N	0.287997	T	0.33411	0.0862	M	0.65498	2.005	0.21697	N	0.999589	P;P;P	0.43169	0.695;0.8;0.794	B;B;B	0.38985	0.099;0.287;0.219	T	0.17961	-1.0352	10	0.49607	T	0.09	.	0.5576	0.00673	0.352:0.1852:0.2917:0.1712	.	37;37;37	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	M	37	ENSP00000417472:V37M;ENSP00000349143:V37M;ENSP00000418857:V37M;ENSP00000394241:V37M;ENSP00000399308:V37M;ENSP00000417511:V37M	ENSP00000349143:V37M	V	+	1	0	BTN2A2	26493236	0.000000	0.05858	0.694000	0.30210	0.308000	0.27856	-2.229000	0.01208	-0.680000	0.05211	0.298000	0.19748	GTG		0.463	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			A	26385257	G	A	26385257	3	1	276	1	0	0	0	0	1	0	0	0	1561	1145	40	1	115	1	BTN2A2	6	26385257	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		26385257	144729810	31	19756											
CUL9	23113	broad.mit.edu	37	chr6	43160945	43160945	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcaggctgggctggCggtgagtacattgggcctgg	5	8	20	8	1	0	1	0	1	0	0	0	1	0	1	1	7	3	5	1	7	1	2	rs199659549		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:43160945C>T	ENST00000252050.4	+	9	2471	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	CUL9_ENST00000372647.2_Splice_Site_p.A796V|CUL9_ENST00000354495.3_Splice_Site_p.A686V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	796					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGGGCTGGCGGTGAGTACA	0.567													C|||	1	0.000199681	0	0	5008	,	,		18630	0		0.001	False		,,,				2504	0					uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e9+1		Homo sapiens cullin 9 (CUL9), mRNA.		C	VAL/ALA	0,4404		0,0,2202	82	82	82		2387	5.1	1	6		82	1,8595		0,1,4297	yes	missense-near-splice	CUL9	NM_015089.2	64	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	796/2518	43160945	1,12999	2202	4298	6500	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43160945C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2388+1C>T	6.37:g.43160945C>T						CUL9_uc003oul.3_Splice_Site_p.A796_splice|CUL9_uc010jyk.3_Splice_Site	p.A796_splice	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			9	2463	+			796					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2388_splice	CCDS4890.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.545253	0.86022	0.0	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37235	1.21;1.21;1.21	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.257437	0.35970	N	0.002871	T	0.38692	0.1050	L	0.27053	0.805	0.47276	D	0.999377	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.42378	-0.9455	10	0.87932	D	0	-20.0966	18.5273	0.90976	0.0:1.0:0.0:0.0	.	796;796	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	V	796;686;796	ENSP00000252050:A796V;ENSP00000346490:A686V;ENSP00000361730:A796V	ENSP00000252050:A796V	A	+	2	0	CUL9	43268923	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.624000	0.67764	2.373000	0.80994	0.297000	0.19635	GCG		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Missense_Mutation	T	43160945	C	T	43160945	5	4	276	1	0	0	0	0	0	0	1	0	4061	782	27	1	2417	1	CUL9	6	43160945	Splice_Site	SNP	C	TCGA-76-6660-01A-11D-1845-08	16775688	43160945	127954122	32	19757											
BCKDHB	594	broad.mit.edu	37	chr6	80838915	80838915	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgcctttggtggagtcttTagatgcactgttggcttgcg	4	16	14	7	1	1	1	0	0	1	1	1	2	1	2	1	3	3	4	1	3	1	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:80838915T>C	ENST00000320393.6	+	3	359	c.312T>C	c.(310-312)ttT>ttC	p.F104F	BCKDHB_ENST00000545529.1_Silent_p.F104F|BCKDHB_ENST00000369760.4_Silent_p.F104F|BCKDHB_ENST00000356489.5_Silent_p.F104F|BCKDHB_ENST00000486968.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	104					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTGGAGTCTTTAGATGCACTG	0.264																																						uc003pjd.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(310-312)ttT>ttC		Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							123	129	127					6																	80838915		2203	4300	6503	SO:0001819	synonymous_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80838915T>C	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.312T>C	6.37:g.80838915T>C						BCKDHB_uc003pje.2_Silent_p.F104F	p.F104F	NM_000056	NP_898871	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	2	379	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	104					Q5T2J3|Q9BQL0	Silent	SNP	ENST00000320393.6	37	c.312T>C	CCDS4994.1																																																																																				0.264	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		C	80838915	T	C	80838915	2	2	276	1	0	0	0	0	0	0	0	1	1360	1751	61	4		4	BCKDHB	6	80838915	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	37677970	80838915	90276152	33	19758											
AHI1	54806	broad.mit.edu	37	chr6	135748441	135748441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaatacatggctacttgTtctcctaaataaaaagagag	16	11	7	7	0	2	2	1	0	1	2	3	3	2	2	1	1	2	2	1	1	8	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:135748441T>C	ENST00000367800.4	-	18	2844	c.2628A>G	c.(2626-2628)gaA>gaG	p.E876E	AHI1_ENST00000417892.2_Silent_p.E230E|AHI1_ENST00000457866.2_Silent_p.E876E|AHI1_ENST00000327035.6_Silent_p.E876E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	876					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGCTACTTGTTCTCCTAAAT	0.323																																						uc003qgi.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(2626-2628)gaA>gaG		Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.							58	55	56					6																	135748441		1825	4075	5900	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135748441T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2628A>G	6.37:g.135748441T>C						AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Silent_p.E326E|AHI1_uc003qgh.3_Silent_p.E876E|AHI1_uc003qgj.3_Silent_p.E876E|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.E876E	p.E876E	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	19	3012	-	Breast(56;0.239)|Colorectal(23;0.24)		876					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.2628A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	8.924	0.961897	0.18583	.	.	ENSG00000135541	ENST00000367799	.	.	.	4.87	-1.44	0.08856	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	-18.7022	0.347	0.00343	0.3988:0.1782:0.1656:0.2574	.	.	.	.	S	376	.	.	N	-	2	0	AHI1	135790134	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.868000	0.27982	-0.017000	0.14103	-0.361000	0.07541	AAC		0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		C	135748441	T	C	135748441	2	2	276	1	0	0	0	0	0	0	0	1	413	1722	60	4		4	AHI1	6	135748441	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	54909526	135748441	35366626	34	19759											
RPS6KA2	6196	broad.mit.edu	37	chr6	166912027	166912027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaccaccagtcggcaCtctgcgtgtgtcctcgccgg	6	7	13	15	5	1	0	0	0	1	0	4	2	2	1	4	3	1	1	4	3	1	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:166912027C>T	ENST00000265678.4	-	8	939	c.716G>A	c.(715-717)aGt>aAt	p.S239N	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.S150N|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.S264N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.S247N|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.S85N|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.S150N	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	239	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCAGTCGGCACTCTGCGTGTG	0.637																																						uc003qvd.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(790-792)aGt>aAt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.							141	93	109					6																	166912027		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166912027C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.716G>A	6.37:g.166912027C>T	ENSP00000265678:p.Ser239Asn					RPS6KA2_uc011ego.1_Missense_Mutation_p.S150N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S150N|RPS6KA2_uc003qvb.1_Missense_Mutation_p.S239N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S247N	p.S264N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	9	904	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	239			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.791G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766595	0.90020	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863	T;T;T;T;T;T	0.66099	1.78;1.78;1.78;1.78;1.78;-0.19	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.62266	1.93	0.51233	D	0.999915	P;P;D	0.55172	0.934;0.835;0.97	P;P;P	0.54706	0.759;0.547;0.711	T	0.71646	-0.4530	10	0.87932	D	0	.	17.1162	0.86689	0.0:1.0:0.0:0.0	.	264;247;239	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	N	239;264;247;150;150;85	ENSP00000265678:S239N;ENSP00000422435:S264N;ENSP00000427015:S247N;ENSP00000422484:S150N;ENSP00000386050:S150N;ENSP00000355828:S85N	ENSP00000265678:S239N	S	-	2	0	RPS6KA2	166832017	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	5.409000	0.66374	2.333000	0.79357	0.561000	0.74099	AGT		0.637	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		T	166912027	C	T	166912027	3	4	276	1	0	0	0	0	1	0	0	0	13651	565	20	3	1541	3	RPS6KA2	6	166912027	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	31163586	166912027	4203040	35	19760											
IKZF1	10320	broad.mit.edu	37	chr7	50358674	50358674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccatggatgctgatgaggGtcaagacatgtcccaagttt	11	10	12	8	0	1	3	1	2	0	1	2	5	2	4	2	2	1	2	2	2	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:50358674G>T	ENST00000331340.3	+	2	172	c.17G>T	c.(16-18)gGt>gTt	p.G6V	IKZF1_ENST00000359197.5_Missense_Mutation_p.G6V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G6V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G6V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G6V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G6V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G6V|IKZF1_ENST00000413698.1_Missense_Mutation_p.G6V|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000357364.4_Missense_Mutation_p.G6V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G6V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	6					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTGATGAGGGTCAAGACATG	0.433			"D,T"	BCL6	"ALL, DLBCL"																																	uc003tow.4				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		41	Unknown(41)	p.?(41)	haematopoietic_and_lymphoid_tissue(41)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(16-18)gGt>gTt		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							230	206	213					7																	50358674		1568	3582	5150	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50358674G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.17G>T	7.37:g.50358674G>T	ENSP00000331614:p.Gly6Val					IKZF1_uc022acq.1_Missense_Mutation_p.G6V|IKZF1_uc003tpa.4_Missense_Mutation_p.G6V|IKZF1_uc022acr.1_Missense_Mutation_p.G6V|IKZF1_uc022acs.1_Missense_Mutation_p.G6V|IKZF1_uc022act.1_Missense_Mutation_p.G6V|IKZF1_uc022acu.1_Missense_Mutation_p.G6V|IKZF1_uc003tox.4_Missense_Mutation_p.G6V|IKZF1_uc022acv.1_Missense_Mutation_p.G6V|IKZF1_uc022acw.1_Missense_Mutation_p.G6V|IKZF1_uc022acx.1_Missense_Mutation_p.G6V|IKZF1_uc022acy.1_Missense_Mutation_p.G6V|IKZF1_uc022acz.1_Missense_Mutation_p.G6V|IKZF1_uc011kck.2_Missense_Mutation_p.G6V|IKZF1_uc003toy.4_Missense_Mutation_p.G6V|IKZF1_uc003tov.1_Missense_Mutation_p.G6V	p.G6V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			1	172	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	6					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.17G>T		.	.	.	.	.	.	.	.	.	.	G	15.08	2.728131	0.48833	.	.	ENSG00000185811	ENST00000413698;ENST00000346667;ENST00000343574;ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T;T	0.05996	4.71;3.36;3.47;3.36;4.46;3.55;3.46;3.36;3.47	5.86	4.96	0.65561	.	0.153604	0.64402	D	0.000020	T	0.16471	0.0396	.	.	.	0.54753	D	0.999986	B;B;B;D	0.56746	0.161;0.348;0.1;0.977	B;B;B;P	0.55923	0.079;0.108;0.024;0.787	T	0.00032	-1.2274	9	0.52906	T	0.07	-0.1407	13.238	0.59982	0.0:0.38:0.62:0.0	.	6;6;6;6	Q13422-2;Q13422-7;Q13422;C9JTB0	.;.;IKZF1_HUMAN;.	V	6	ENSP00000340080:G6V;ENSP00000342750:G6V;ENSP00000352123:G6V;ENSP00000401507:G6V;ENSP00000342485:G6V;ENSP00000349928:G6V;ENSP00000331614:G6V;ENSP00000396554:G6V;ENSP00000413025:G6V	ENSP00000331614:G6V	G	+	2	0	IKZF1	50329219	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.629000	0.67798	2.766000	0.95052	0.655000	0.94253	GGT		0.433	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50358674	G	T	50358674	3	4	276	1	0	0	0	0	1	0	0	0	7614	1261	44	5	19	5	IKZF1	7	50358674	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		50358674	108779989	36	19761											
SEPT14	346288	broad.mit.edu	37	chr7	55912359	55912359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatttgttatctttcaaGttagtattaaacaatgtgtc	12	17	8	4	0	2	0	1	0	1	0	3	2	2	1	0	1	1	3	0	1	7	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:55912359G>A	ENST00000388975.3	-	4	344	c.228C>T	c.(226-228)aaC>aaT	p.N76N	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	76	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTTTCAAGTTAGTATTAA	0.353																																						uc003tqz.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(226-228)aaC>aaT		Homo sapiens septin 14 (SEPT14), mRNA.							92	88	89					7																	55912359		1853	4074	5927	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55912359G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.228C>T	7.37:g.55912359G>A							p.N76N	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	345	-	Breast(14;0.214)		76					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.228C>T	CCDS5519.2																																																																																				0.353	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		A	55912359	G	A	55912359	2	1	276	1	0	0	0	0	0	0	0	1	14063	1020	36	3		3	SEPT14	7	55912359	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	5553685	55912359	103226304	37	19762											
EIF4H	7458	broad.mit.edu	37	chr7	73609098	73609098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacttcttagggggcaGgggaggtagtcgcccaggcg	7	7	19	8	2	1	1	0	1	1	0	2	3	1	3	1	7	0	2	1	7	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:73609098G>A	ENST00000265753.8	+	6	636	c.497G>A	c.(496-498)aGg>aAg	p.R166K	EIF4H_ENST00000353999.6_Missense_Mutation_p.R146K|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	166					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TTAGGGGGCAGGGGAGGTAGT	0.542																																						uc003uad.1																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(496-498)aGg>aAg		Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.							74	87	83					7																	73609098		2203	4300	6503	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609098G>A		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.497G>A	7.37:g.73609098G>A	ENSP00000265753:p.Arg166Lys					EIF4H_uc003uae.1_Missense_Mutation_p.R146K	p.R166K	NM_022170	NP_071496	Q15056	IF4H_HUMAN			5	505	+			166					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.497G>A	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160913	0.78226	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.75154	1.21;-0.91	4.61	4.61	0.57282	.	0.159401	0.52532	D	0.000077	T	0.70718	0.3256	M	0.64997	1.995	0.52099	D	0.999949	B;P	0.48764	0.004;0.915	B;B	0.40825	0.02;0.341	T	0.73297	-0.4027	10	0.38643	T	0.18	-8.5201	14.3085	0.66400	0.0:0.0:1.0:0.0	.	146;166	Q15056-2;Q15056	.;IF4H_HUMAN	K	166;146	ENSP00000265753:R166K;ENSP00000265754:R146K	ENSP00000265753:R166K	R	+	2	0	EIF4H	73247034	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	4.949000	0.63596	2.397000	0.81536	0.563000	0.77884	AGG		0.542	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		A	73609098	G	A	73609098	3	1	276	1	0	0	0	0	1	0	0	0	5039	1000	35	3	519	3	EIF4H	7	73609098	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	17696739	73609098	85529565	38	19763											
MUC17	140453	broad.mit.edu	37	chr7	100683326	100683326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaacaagtatacctgtcAgcaccacgccggtggccagt	11	9	9	12	2	1	0	1	0	0	0	1	0	1	0	4	2	3	2	4	2	5	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:100683326A>G	ENST00000306151.4	+	3	8693	c.8629A>G	c.(8629-8631)Agc>Ggc	p.S2877G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2877	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATACCTGTCAGCACCACGCC	0.478																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8629-8631)Agc>Ggc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							255	267	263					7																	100683326		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683326A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8629A>G	7.37:g.100683326A>G	ENSP00000302716:p.Ser2877Gly					MUC17_uc010lho.1_Non-coding_Transcript	p.S2877G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	8682	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2877			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8629A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.455	-0.563850	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.478	0.478	0.16789	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.51084	-0.8750	8	0.28530	T	0.3	.	.	.	.	.	2877	Q685J3	MUC17_HUMAN	G	2877	ENSP00000302716:S2877G	ENSP00000302716:S2877G	S	+	1	0	MUC17	100470046	0.033000	0.19621	0.010000	0.14722	0.014000	0.08584	1.542000	0.36137	0.469000	0.27268	0.113000	0.15668	AGC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100683326	A	G	100683326	3	3	276	1	0	0	0	0	1	0	0	0	9974	188	7	4	8639	4	MUC17	7	100683326	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	27074228	100683326	58455337	39	19764											
RELN	5649	broad.mit.edu	37	chr7	103338368	103338368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgagactatcttctaaaaCgacttgtctgtgagctgaat	11	13	9	8	2	3	3	0	2	3	1	4	5	3	3	0	0	2	1	0	0	4	4	rs114926265	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:103338368C>T	ENST00000428762.1	-	10	1234	c.1075G>A	c.(1075-1077)Gtt>Att	p.V359I	RELN_ENST00000343529.5_Missense_Mutation_p.V359I|RELN_ENST00000424685.2_Missense_Mutation_p.V359I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	359					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCTAAAACGACTTGTCTG	0.428													C|||	21	0.00419329	0.0159	0	5008	,	,		18227	0		0	False		,,,				2504	0				NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1075-1077)Gtt>Att		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	79,4327	68.7+/-106.4	3,73,2127	165	151	156		1075,1075	-6.2	0.4	7	dbSNP_132	156	0,8600		0,0,4300	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	29,29	3,73,6427	TT,TC,CC		0.0,1.793,0.6074	benign,benign	359/3461,359/3459	103338368	79,12927	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338368C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1075G>A	7.37:g.103338368C>T	ENSP00000392423:p.Val359Ile					RELN_uc022ajq.1_Missense_Mutation_p.V359I|RELN_uc010liz.3_Missense_Mutation_p.V359I	p.V359I	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	9	1235	-			359					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1075G>A	CCDS47680.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	c	4.144	0.024996	0.08054	0.01793	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23147	1.92;1.92;1.92	6.05	-6.21	0.02065	.	0.768215	0.12678	N	0.448216	T	0.08088	0.0202	L	0.27053	0.805	0.22253	N	0.999251	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19031	-1.0318	10	0.15499	T	0.54	.	19.789	0.96450	0.0:0.7707:0.0:0.2293	.	359;359	P78509-2;P78509	.;RELN_HUMAN	I	359	ENSP00000392423:V359I;ENSP00000345694:V359I;ENSP00000388446:V359I	ENSP00000345694:V359I	V	-	1	0	RELN	103125604	0.831000	0.29352	0.372000	0.25991	0.355000	0.29361	0.115000	0.15540	-1.075000	0.03129	-0.985000	0.02557	GTT		0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103338368	C	T	103338368	3	4	276	1	0	0	0	0	1	0	0	0	13220	536	19	1	9531	1	RELN	7	103338368	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	2655042	103338368	55800295	40	19765											
SLC26A3	1811	broad.mit.edu	37	chr7	107415299	107415299	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcgcttgcgtagaattcGaagtggactaaagccaacct	11	10	11	9	3	0	1	0	0	0	1	1	3	0	2	2	1	4	3	2	1	6	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:107415299G>A	ENST00000340010.5	-	16	1880	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.R531*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTAGAATTCGAAGTGGACTA	0.398																																						uc003ver.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1696-1698)Cga>Tga		Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.							136	121	126					7																	107415299		2203	4300	6503	SO:0001587	stop_gained	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107415299G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1696C>T	7.37:g.107415299G>A	ENSP00000345873:p.Arg566*					SLC26A3_uc003ves.2_Nonsense_Mutation_p.R531*	p.R566*	NM_000111	NP_000102	P40879	S26A3_HUMAN			15	1907	-			566			STAS.			Nonsense_Mutation	SNP	ENST00000340010.5	37	c.1696C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	40	8.398872	0.98794	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	6.11	4.1	0.47936	.	0.147172	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0514	0.64739	0.0:0.0:0.5864:0.4136	.	.	.	.	X	531;566	.	ENSP00000345873:R566X	R	-	1	2	SLC26A3	107202535	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.490000	0.45294	1.545000	0.49373	0.655000	0.94253	CGA		0.398	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		A	107415299	G	A	107415299	4	1	276	1	0	0	0	0	0	1	0	0	14518	1066	37	2	622	2	SLC26A3	7	107415299	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	4076931	107415299	51723364	41	19766											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558926	113558926	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaatcagaacctcgtctActtggttgaggggagaaacc	13	8	12	8	1	2	4	1	1	1	3	3	6	2	4	2	3	3	1	2	3	5	3	rs372659556		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:113558926A>C	ENST00000284601.3	-	1	194	c.126T>G	c.(124-126)agT>agG	p.S42R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	42					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACCTCGTCTACTTGGTTGAG	0.373																																						uc010ljy.1																			0		p.S42R(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(124-126)agT>agG		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							82	82	82					7																	113558926		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558926A>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.126T>G	7.37:g.113558926A>C	ENSP00000284601:p.Ser42Arg						p.S42R	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			0	157	-			42					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.126T>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.150170	0.01700	.	.	ENSG00000154415	ENST00000284601	T	0.14640	2.49	6.17	-9.13	0.00704	.	0.113637	0.64402	D	0.000011	T	0.04003	0.0112	N	0.16478	0.41	0.22552	N	0.998992	B	0.06786	0.001	B	0.08055	0.003	T	0.42015	-0.9476	10	0.02654	T	1	-0.0861	8.144	0.31100	0.1007:0.2543:0.519:0.1261	.	42	Q16821	PPR3A_HUMAN	R	42	ENSP00000284601:S42R	ENSP00000284601:S42R	S	-	3	2	PPP1R3A	113346162	0.003000	0.15002	0.266000	0.24541	0.857000	0.48899	-1.349000	0.02627	-1.083000	0.03097	-0.256000	0.11100	AGT		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		C	113558926	A	C	113558926	3	2	276	1	0	0	0	0	1	0	0	0	12371	388	14	5	3258	5	PPP1R3A	7	113558926	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	6143627	113558926	45579737	42	19767											
IMPDH1	3614	broad.mit.edu	37	chr7	128034510	128034510	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagtctcagcactcacCgaaggacagacaggctgcgg	10	4	11	16	2	2	1	2	0	1	1	3	3	2	2	3	3	2	2	3	3	1	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:128034510C>T	ENST00000480861.1	-	12	1501	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	IMPDH1_ENST00000354269.5_Splice_Site_p.R555Q|IMPDH1_ENST00000378717.4_Splice_Site_p.R496Q|IMPDH1_ENST00000348127.6_Splice_Site_p.R529Q|IMPDH1_ENST00000496200.1_Splice_Site_p.R455Q|IMPDH1_ENST00000338791.6_Splice_Site_p.R565Q|IMPDH1_ENST00000470772.1_Splice_Site_p.R479Q|IMPDH1_ENST00000419067.2_Splice_Site_p.R532Q|IMPDH1_ENST00000343214.4_Splice_Site_p.R455Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAGCACTCACCGAAGGACAGA	0.582																																						uc011kol.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.e12+1		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						73	73	73					7																	128034510		2203	4300	6503	SO:0001630	splice_region_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034510C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1424+1G>A	7.37:g.128034510C>T						IMPDH1_uc011kom.1_Splice_Site_p.R475_splice|IMPDH1_uc003vmt.2_Splice_Site_p.R455_splice|IMPDH1_uc003vmu.2_Splice_Site_p.R565_splice|IMPDH1_uc003vmx.2_Splice_Site_p.R488_splice|IMPDH1_uc003vmy.2_Splice_Site_p.R496_splice|IMPDH1_uc003vmw.2_Splice_Site_p.R555_splice|IMPDH1_uc011kon.1_Splice_Site_p.R532_splice|IMPDH1_uc003vmv.2_Splice_Site_p.R529_splice|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	p.R480_splice	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			12	1545	-			480						Missense_Mutation	SNP	ENST00000480861.1	37	c.1439_splice	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511037	0.85389	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.18	5.18	0.71444	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	N	0.25380	0.74	0.58432	D	0.999999	D;D;D;D;D;P;P;D	0.89917	1.0;0.989;0.995;0.998;0.999;0.785;0.95;0.987	D;P;P;P;D;B;B;P	0.66602	0.945;0.792;0.792;0.862;0.927;0.077;0.176;0.688	T	0.75422	-0.3323	9	.	.	.	-13.8771	9.7576	0.40513	0.0:0.9063:0.0:0.0937	.	532;475;480;496;555;529;565;455	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	Q	532;565;455;555;496;529;455;479;475	ENSP00000399400:R532Q;ENSP00000345096:R565Q;ENSP00000420803:R455Q;ENSP00000346219:R555Q;ENSP00000367989:R496Q;ENSP00000265385:R529Q;ENSP00000342438:R455Q;ENSP00000417296:R479Q;ENSP00000420185:R475Q	.	R	-	2	0	IMPDH1	127821746	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.370000	0.44240	2.409000	0.81822	0.561000	0.74099	CGG		0.582	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883	Missense_Mutation	T	128034510	C	T	128034510	5	4	276	1	0	0	0	0	0	0	1	0	7726	666	23	2	117	2	IMPDH1	7	128034510	Splice_Site	SNP	C	TCGA-76-6660-01A-11D-1845-08	14475584	128034510	31104153	43	19768											
KCNB2	9312	broad.mit.edu	37	chr8	73849104	73849104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtcggaaacaagctccaAcaagtctttcgagaataagt	14	10	8	9	2	2	1	0	0	2	1	5	3	3	2	1	1	3	1	1	1	6	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:73849104A>T	ENST00000523207.1	+	3	2102	c.1514A>T	c.(1513-1515)aAc>aTc	p.N505I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	505					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACAAGCTCCAACAAGTCTTTC	0.562																																						uc003xzb.3																			0		p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1513-1515)aAc>aTc		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							111	118	116					8																	73849104		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849104A>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1514A>T	8.37:g.73849104A>T	ENSP00000430846:p.Asn505Ile						p.N505I	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	2102	+	Breast(64;0.137)		505					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1514A>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000252	0.54147	.	.	ENSG00000182674	ENST00000523207	T	0.28666	1.6	5.47	4.24	0.50183	.	1.094740	0.07032	N	0.828710	T	0.49677	0.1571	L	0.54323	1.7	0.40259	D	0.978152	D	0.59767	0.986	P	0.61800	0.894	T	0.25047	-1.0143	10	0.52906	T	0.07	.	12.1567	0.54081	0.8572:0.1428:0.0:0.0	.	505	Q92953	KCNB2_HUMAN	I	505	ENSP00000430846:N505I	ENSP00000430846:N505I	N	+	2	0	KCNB2	74011658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.023000	0.57211	2.064000	0.61679	0.533000	0.62120	AAC		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73849104	A	T	73849104	3	4	276	1	0	0	0	0	1	0	0	0	8013	43	2	5	1520	5	KCNB2	8	73849104	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		73849104	72514918	44	19769											
CSMD3	114788	broad.mit.edu	37	chr8	113256734	113256734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtataaatcagtgtataccCatgagatggaaggtccatcc	13	10	10	8	0	1	1	1	1	0	1	3	3	3	2	3	3	1	2	3	3	6	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:113256734C>G	ENST00000297405.5	-	65	10535	c.10291G>C	c.(10291-10293)Ggg>Cgg	p.G3431R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3361R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3391R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3262R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3431	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGTATACCCATGAGATGGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10291-10293)Ggg>Cgg		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							135	118	123					8																	113256734		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256734C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10291G>C	8.37:g.113256734C>G	ENSP00000297405:p.Gly3431Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Missense_Mutation_p.G2633R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3391R|CSMD3_uc011lhx.2_Missense_Mutation_p.G3262R	p.G3431R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			64	10450	-			3431			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10291G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736304	0.69189	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.153020	0.42682	D	0.000679	D	0.86826	0.6026	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.88134	0.2840	10	0.66056	D	0.02	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	3262;3431;3391	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	3391;3431;2701;3262;3361	ENSP00000345799:G3391R;ENSP00000297405:G3431R;ENSP00000341558:G2701R;ENSP00000412263:G3262R;ENSP00000343124:G3361R	ENSP00000297405:G3431R	G	-	1	0	CSMD3	113325910	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	7.458000	0.80787	2.793000	0.96121	0.591000	0.81541	GGG		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113256734	C	G	113256734	3	3	276	1	0	0	0	0	1	0	0	0	3946	594	21	5	860	5	CSMD3	8	113256734	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	39407630	113256734	33107288	45	19770											
GPR20	2843	broad.mit.edu	37	chr8	142367058	142367058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgctgaccacgtcaccGctgctgggctcacgctctcc	5	9	10	17	3	3	1	2	1	1	0	4	1	3	1	3	1	3	6	3	1	0	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:142367058G>A	ENST00000377741.3	-	2	1056	c.966C>T	c.(964-966)agC>agT	p.S322S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	322					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657																																						uc022bby.1																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(964-966)agC>agT		Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.							75	64	68					8																	142367058		2203	4300	6503	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367058G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.966C>T	8.37:g.142367058G>A						GPR20_uc003ywf.3_Silent_p.S322S	p.S322S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		0	966	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		322					Q17R96	Silent	SNP	ENST00000377741.3	37	c.966C>T	CCDS34949.1																																																																																				0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367058	G	A	142367058	2	1	276	1	0	0	0	0	0	0	0	1	6680	1078	38	1		1	GPR20	8	142367058	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	29110324	142367058	3996964	46	19771											
TMEM2	23670	broad.mit.edu	37	chr9	74319626	74319626	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggaaaggcagccttctGattaatacctcggagcacca	11	9	10	11	1	1	1	0	1	1	0	2	3	1	3	3	3	3	2	3	3	3	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:74319626G>A	ENST00000377044.4	-	18	3618	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q964*|TMEM2_ENST00000396272.3_Nonsense_Mutation_p.Q20*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1027					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAGCCTTCTGATTAATACCT	0.483																																						uc011lsa.1																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(3079-3081)Cag>Tag		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							141	116	125					9																	74319626		2203	4300	6503	SO:0001587	stop_gained	23670					integral to membrane		g.chr9:74319626G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3079C>T	9.37:g.74319626G>A	ENSP00000366243:p.Gln1027*					TMEM2_uc011lrz.1_Nonsense_Mutation_p.Q20*|TMEM2_uc010mos.2_Nonsense_Mutation_p.Q964*|TMEM2_uc011lsb.1_Non-coding_Transcript	p.Q1027*	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	17	3619	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1027					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	c.3079C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	37	6.123918	0.97305	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	.	.	.	5.58	5.58	0.84498	.	0.187360	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	19.5601	0.95368	0.0:0.0:1.0:0.0	.	.	.	.	X	1027;964;20;56;128	.	ENSP00000366242:Q128X	Q	-	1	0	TMEM2	73509446	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.296000	0.72751	2.612000	0.88384	0.561000	0.74099	CAG		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		A	74319626	G	A	74319626	4	1	276	1	0	0	0	0	0	1	0	0	16118	1299	45	3	1100	3	TMEM2	9	74319626	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		74319626	66893805	47	19772											
PRPF4	9128	broad.mit.edu	37	chr9	116038922	116038922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaaggagagggagcGtctggccaaaggagagtctg	13	4	19	5	1	2	3	0	0	2	3	2	8	2	5	1	5	1	0	1	5	3	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:116038922G>A	ENST00000374198.4	+	2	227	c.125G>A	c.(124-126)cGt>cAt	p.R42H	PRPF4_ENST00000374199.4_Missense_Mutation_p.R41H|CDC26_ENST00000490408.1_5'Flank|CDC26_ENST00000374206.3_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458																																						uc004bgx.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(124-126)cGt>cAt		Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.							138	148	144					9																	116038922		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116038922G>A	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.125G>A	9.37:g.116038922G>A	ENSP00000363313:p.Arg42His					FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Missense_Mutation_p.R41H	p.R42H	NM_004697	NP_004688	O43172	PRP4_HUMAN			1	235	+			42					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.125G>A	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577975	0.86645	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.64803	-0.12;-0.07	5.97	5.97	0.96955	.	0.054263	0.85682	D	0.000000	T	0.55465	0.1922	L	0.60455	1.87	0.80722	D	1	P;P	0.43885	0.82;0.665	B;B	0.28232	0.087;0.055	T	0.61192	-0.7112	10	0.42905	T	0.14	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	57;42	Q59EL4;O43172	.;PRP4_HUMAN	H	41;42	ENSP00000363315:R41H;ENSP00000363313:R42H	ENSP00000363313:R42H	R	+	2	0	PRPF4	115078743	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.814000	0.91968	2.838000	0.97847	0.561000	0.74099	CGT		0.458	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		A	116038922	G	A	116038922	3	1	276	1	0	0	0	0	1	0	0	0	12570	1145	40	1	131	1	PRPF4	9	116038922	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	41719296	116038922	25174509	48	19773											
PKN3	29941	broad.mit.edu	37	chr9	131482499	131482499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctccagaagtgcccGgagaagcgcctcggggcagg	8	4	15	14	3	0	2	0	0	0	2	3	3	2	2	4	4	3	2	4	4	2	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:131482499G>A	ENST00000291906.4	+	21	2787	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAAGTGCCCGGAGAAGCGCC	0.657																																						uc004bvw.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2392-2394)ccG>ccA		Homo sapiens protein kinase N3 (PKN3), mRNA.							43	48	46					9																	131482499		2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482499G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2394G>A	9.37:g.131482499G>A						PKN3_uc010myh.3_Silent_p.P798P|PKN3_uc022bom.1_Non-coding_Transcript	p.P798P	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			20	2787	+			798			Protein kinase.		Q9UM03	Silent	SNP	ENST00000291906.4	37	c.2394G>A	CCDS6908.1																																																																																				0.657	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		A	131482499	G	A	131482499	2	1	276	1	0	0	0	0	0	0	0	1	11981	1103	39	2		2	PKN3	9	131482499	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	15443577	131482499	9730932	49	19774											
KCNT1	57582	broad.mit.edu	37	chr9	138662162	138662162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagggacaggagtctccGgagcagtggcagcgcatgta	10	5	18	8	2	1	0	0	0	1	0	2	4	1	4	1	5	2	4	1	5	1	1	rs138352399		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:138662162G>A	ENST00000263604.3	+	17	1581	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	KCNT1_ENST00000486577.2_Silent_p.P507P|KCNT1_ENST00000488444.2_Silent_p.P527P|KCNT1_ENST00000298480.5_Silent_p.P546P|KCNT1_ENST00000490355.2_Silent_p.P527P|KCNT1_ENST00000487664.1_Silent_p.P501P|KCNT1_ENST00000371757.2_Silent_p.P546P|KCNT1_ENST00000491806.2_Silent_p.P513P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	527	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGAGTCTCCGGAGCAGTGGC	0.682													G|||	1	0.000199681	8e-04	0	5008	,	,		15857	0		0	False		,,,				2504	0					uc011mdq.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1636-1638)ccG>ccA		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.		G		4,4400	8.1+/-20.4	0,4,2198	46	40	42		1638	-8.5	0.1	9	dbSNP_134	42	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	KCNT1	NM_020822.2		0,5,6496	AA,AG,GG		0.0116,0.0908,0.0385		546/1236	138662162	5,12997	2202	4299	6501	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138662162G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1581G>A	9.37:g.138662162G>A						KCNT1_uc011mdr.2_Silent_p.P373P|KCNT1_uc010nbf.3_Silent_p.P501P|KCNT1_uc004cgo.1_Silent_p.P295P	p.P546P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	16	1712	+		Myeloproliferative disorder(178;0.0821)	546					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1638G>A																																																																																					0.682	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138662162	G	A	138662162	2	1	276	1	0	0	0	0	0	0	0	1	8091	1103	39	2		2	KCNT1	9	138662162	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	7179663	138662162	2551269	50	19775											
OPTN	10133	broad.mit.edu	37	chr10	13174131	13174131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaaaattcatgaggaaaAggagcaactggcattgcagc	17	6	12	6	0	1	2	1	1	0	1	1	5	1	4	0	3	4	3	0	3	5	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:13174131A>G	ENST00000378748.3	+	14	1828	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	OPTN_ENST00000378764.2_Missense_Mutation_p.K483R|OPTN_ENST00000378757.2_Missense_Mutation_p.K489R|OPTN_ENST00000263036.5_Missense_Mutation_p.K489R|OPTN_ENST00000378752.3_Missense_Mutation_p.K483R|OPTN_ENST00000378747.3_Missense_Mutation_p.K489R	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	489	Interaction with HD.|Interaction with MYO6.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CATGAGGAAAAGGAGCAACTG	0.443																																						uc001ilu.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1465-1467)aAg>aGg		Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.							121	117	118					10																	13174131		2203	4300	6503	SO:0001583	missense	10133				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	g.chr10:13174131A>G	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1466A>G	10.37:g.13174131A>G	ENSP00000368022:p.Lys489Arg					OPTN_uc001ilv.1_Missense_Mutation_p.K489R|OPTN_uc001ilw.1_Missense_Mutation_p.K489R|OPTN_uc001ilx.1_Missense_Mutation_p.K489R|OPTN_uc001ily.1_Missense_Mutation_p.K483R|OPTN_uc010qbr.1_Missense_Mutation_p.K432R	p.K489R	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN			13	1904	+			489			Interaction with HD.|Interaction with MYO6.		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	c.1466A>G	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968893	0.74131	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.91631	-2.88;-2.86;-2.88;-2.86;-2.88;-2.88	6.17	6.17	0.99709	.	0.081477	0.85682	D	0.000000	D	0.94381	0.8193	M	0.70275	2.135	0.51482	D	0.999926	P;P	0.48089	0.905;0.846	P;P	0.54460	0.753;0.571	D	0.94304	0.7539	10	0.54805	T	0.06	-38.5534	15.8048	0.78491	1.0:0.0:0.0:0.0	.	483;489	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	R	489;483;489;483;489;489	ENSP00000263036:K489R;ENSP00000368040:K483R;ENSP00000368032:K489R;ENSP00000368027:K483R;ENSP00000368022:K489R;ENSP00000368021:K489R	ENSP00000263036:K489R	K	+	2	0	OPTN	13214137	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.238000	0.65366	2.371000	0.80710	0.533000	0.62120	AAG		0.443	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		G	13174131	A	G	13174131	3	3	276	1	0	0	0	0	1	0	0	0	10889	72	3	4	1508	4	OPTN	10	13174131	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		13174131	122360616	51	19776											
CCDC7	79741	broad.mit.edu	37	chr10	32780862	32780862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataatagaaactgctcattCaatgactaatcgatttaatg	17	13	5	6	1	2	2	2	1	0	1	3	3	2	2	0	0	2	1	0	0	7	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:32780862C>T	ENST00000362006.5	+	10	1352	c.809C>T	c.(808-810)tCa>tTa	p.S270L	CCDC7_ENST00000537047.1_Nonsense_Mutation_p.Q175*|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.S270L|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000489718.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	270										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ACTGCTCATTCAATGACTAAT	0.264																																						uc001iwj.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(808-810)tCa>tTa		Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.							66	75	72					10																	32780862		2203	4292	6495	SO:0001583	missense	221016							g.chr10:32780862C>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.809C>T	10.37:g.32780862C>T	ENSP00000355078:p.Ser270Leu					CCDC7_uc009xlu.2_Intron|CCDC7_uc001iwk.3_Missense_Mutation_p.S270L|CCDC7_uc009xlv.3_Intron|CCDC7_uc009xly.1_Intron|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Intron	p.S270L	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN			9	1379	+		Breast(68;0.000207)|Prostate(175;0.0107)	270					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.809C>T	CCDS7173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.776657|1.776657	0.31411|0.31411	.|.	.|.	ENSG00000216937|ENSG00000216937	ENST00000537047|ENST00000277657;ENST00000362006	.|T;T	.|0.36878	.|1.23;1.23	4.13|4.13	1.16|1.16	0.20824|0.20824	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22551	.|0.0544	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	0.999992|0.999992	.|B	.|0.15141	.|0.012	.|B	.|0.17433	.|0.018	.|T	.|0.21690	.|-1.0238	.|9	0.87932|0.49607	D|T	0|0.09	-23.8202|-23.8202	5.9093|5.9093	0.19018|0.19018	0.0:0.638:0.0:0.362|0.0:0.638:0.0:0.362	.|.	.|270	.|Q96M83	.|CCDC7_HUMAN	X|L	175|270	.|ENSP00000277657:S270L;ENSP00000355078:S270L	ENSP00000440632:Q175X|ENSP00000277657:S270L	Q|S	+|+	1|2	0|0	CCDC7|CCDC7	32820868|32820868	0.002000|0.002000	0.14202|0.14202	0.004000|0.004000	0.12327|0.12327	0.009000|0.009000	0.06853|0.06853	0.163000|0.163000	0.16520|0.16520	0.252000|0.252000	0.21531|0.21531	-0.254000|-0.254000	0.11334|0.11334	CAA|TCA		0.264	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		T	32780862	C	T	32780862	3	4	276	1	0	0	0	0	1	0	0	0	2842	838	29	3	843	3	CCDC7	10	32780862	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	19606731	32780862	102753885	52	19777											
SLC18A3	6572	broad.mit.edu	37	chr10	50819867	50819867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagtggctgtacggcGcgcttgggctggctgtgatc	4	10	16	11	3	0	1	0	1	0	0	1	1	0	1	1	4	2	6	1	4	1	2	rs554262479	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:50819867G>A	ENST00000374115.3	+	1	1521	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	361					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTGTACGGCGCGCTTGGGCT	0.687																																						uc001jhw.3																			0		p.A361V(1)|p.A361A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1081-1083)Gcg>Acg		Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.							37	40	39					10																	50819867		2200	4297	6497	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819867G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1081G>A	10.37:g.50819867G>A	ENSP00000363229:p.Ala361Thr					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.A361T	NM_003055	NP_003046	Q16572	VACHT_HUMAN			0	1521	+			361					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1081G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674798	0.67928	.	.	ENSG00000187714	ENST00000374115	T	0.59224	0.28	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.78622	0.4312	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80865	-0.1191	10	0.52906	T	0.07	-8.8518	18.6285	0.91350	0.0:0.0:1.0:0.0	.	361	Q16572	VACHT_HUMAN	T	361	ENSP00000363229:A361T	ENSP00000363229:A361T	A	+	1	0	SLC18A3	50489873	1.000000	0.71417	0.608000	0.28969	0.231000	0.25187	9.725000	0.98778	2.412000	0.81896	0.561000	0.74099	GCG		0.687	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		A	50819867	G	A	50819867	3	1	276	1	0	0	0	0	1	0	0	0	14427	1087	38	1	1083	1	SLC18A3	10	50819867	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	18039005	50819867	84714880	53	19778											
LIPF	8513	broad.mit.edu	37	chr10	90428330	90428330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggccagagacctgttgTgtttttgcagcatggtttgc	6	15	12	8	0	0	1	0	0	0	1	0	2	0	1	2	2	3	5	2	2	1	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:90428330T>A	ENST00000238983.4	+	4	285	c.239T>A	c.(238-240)gTg>gAg	p.V80E	LIPF_ENST00000355843.2_Intron|LIPF_ENST00000394375.3_Missense_Mutation_p.V90E|LIPF_ENST00000608620.1_Intron	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	80					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AGACCTGTTGTGTTTTTGCAG	0.408																																						uc001kfg.2																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(238-240)gTg>gAg		Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.							75	66	69					10																	90428330		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90428330T>A	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.239T>A	10.37:g.90428330T>A	ENSP00000238983:p.Val80Glu					LIPF_uc009xtk.3_Missense_Mutation_p.V80E|LIPF_uc001kfh.2_Intron|LIPF_uc010qmt.2_Missense_Mutation_p.V90E|LIPF_uc010qmu.2_Intron	p.V80E	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	3	353	+		Colorectal(252;0.0161)	80					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.239T>A	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168088	0.78339	.	.	ENSG00000182333	ENST00000394375;ENST00000238983	D;D	0.93189	-3.18;-3.18	4.39	-0.718	0.11205	Partial AB-hydrolase lipase domain (1);	0.495276	0.16912	N	0.194446	D	0.97692	0.9243	H	0.99516	4.605	0.28001	N	0.935261	D;D;D	0.65815	0.971;0.995;0.977	D;D;D	0.68483	0.93;0.937;0.958	D	0.92602	0.6092	10	0.87932	D	0	-5.3877	9.3023	0.37853	0.0:0.3296:0.0:0.6704	.	90;90;80	F5H1P4;B7Z723;P07098	.;.;LIPG_HUMAN	E	90;80	ENSP00000377900:V90E;ENSP00000238983:V80E	ENSP00000238983:V80E	V	+	2	0	LIPF	90418310	0.972000	0.33761	0.007000	0.13788	0.966000	0.64601	1.646000	0.37249	-0.001000	0.14495	0.455000	0.32223	GTG		0.408	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			A	90428330	T	A	90428330	3	1	276	1	0	0	0	0	1	0	0	0	8822	1696	59	5	249	5	LIPF	10	90428330	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	39608463	90428330	45106417	54	19779											
DMBT1	1755	broad.mit.edu	37	chr10	124395540	124395540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaactatgattatattgaAgttttcgatggcccctaccg	10	14	8	9	2	0	2	0	2	0	0	1	3	0	2	3	1	3	2	3	1	6	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:124395540A>G	ENST00000338354.3	+	50	6301	c.6195A>G	c.(6193-6195)gaA>gaG	p.E2065E	DMBT1_ENST00000359586.6_Silent_p.E785E|DMBT1_ENST00000330163.4_Silent_p.E1437E|DMBT1_ENST00000368955.3_Silent_p.E2055E|DMBT1_ENST00000368956.2_Silent_p.E1437E|DMBT1_ENST00000344338.3_Silent_p.E2055E|DMBT1_ENST00000368909.3_Silent_p.E2065E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2065	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATATTGAAGTTTTCGATG	0.507																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6193-6195)gaA>gaG		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							119	115	116					10																	124395540		1961	4142	6103	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124395540A>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6195A>G	10.37:g.124395540A>G						DMBT1_uc001lgl.1_Silent_p.E2055E|DMBT1_uc001lgm.1_Silent_p.E1437E|DMBT1_uc021qaf.1_Silent_p.E2065E|DMBT1_uc021qag.1_Silent_p.E2055E|DMBT1_uc021qah.1_Silent_p.E1437E|DMBT1_uc009xzz.1_Silent_p.E2064E|DMBT1_uc010qtx.1_Silent_p.E785E|DMBT1_uc009yab.1_Silent_p.E768E|DMBT1_uc009yac.1_Silent_p.E359E	p.E2065E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			49	6301	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2065			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6195A>G																																																																																					0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124395540	A	G	124395540	2	3	276	1	0	0	0	0	0	0	0	1	4577	69	3	4		4	DMBT1	10	124395540	Silent	SNP	A	TCGA-76-6660-01A-11D-1845-08	33967210	124395540	11139207	55	19780											
NLRP14	338323	broad.mit.edu	37	chr11	7083705	7083705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtgtgatgctttgagAtatccaaactgtaacattca	12	15	7	7	0	2	2	1	2	1	1	3	3	3	2	1	0	3	2	1	0	3	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:7083705A>G	ENST00000299481.4	+	10	3292	c.2946A>G	c.(2944-2946)agA>agG	p.R982R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	982					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCTTTGAGATATCCAAACT	0.403																																						uc001mfb.1																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2944-2946)agA>agG		Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.							152	142	145					11																	7083705		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7083705A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2946A>G	11.37:g.7083705A>G							p.R982R	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3269	+			982					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.2946A>G	CCDS7776.1																																																																																				0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		G	7083705	A	G	7083705	2	3	276	1	0	0	0	0	0	0	0	1	10476	330	12	4		4	NLRP14	11	7083705	Silent	SNP	A	TCGA-76-6660-01A-11D-1845-08		7083705	127922811	56	19781											
RNF141	50862	broad.mit.edu	37	chr11	10536581	10536581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccagtcatctgtaggCgacaaatagggcaattcctg	10	11	10	10	1	2	0	1	0	1	0	4	1	4	0	2	2	1	3	2	2	4	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:10536581C>T	ENST00000265981.2	-	6	717	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	192					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R192H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CATCTGTAGGCGACAAATAGG	0.383																																					Ovarian(8;377 410 25844 26058 41491)	uc001mis.1																			1	Substitution - Missense(1)	p.R192H(2)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(574-576)cGc>cAc		Homo sapiens ring finger protein 141 (RNF141), mRNA.							152	137	142					11																	10536581		2201	4294	6495	SO:0001583	missense	50862						zinc ion binding	g.chr11:10536581C>T	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"RING-type (C3HC4) zinc fingers"	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.575G>A	11.37:g.10536581C>T	ENSP00000265981:p.Arg192His					RNF141_uc009yga.1_Non-coding_Transcript	p.R192H	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	5	728	-			192					A8K149|Q9NZB4	Missense_Mutation	SNP	ENST00000265981.2	37	c.575G>A	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297516	0.81025	.	.	ENSG00000110315	ENST00000265981	T	0.61158	0.13	5.7	5.7	0.88788	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.89414	3.03	0.80722	D	1	D	0.56035	0.974	P	0.47015	0.534	T	0.79004	-0.1980	10	0.72032	D	0.01	-10.379	19.8478	0.96722	0.0:1.0:0.0:0.0	.	192	Q8WVD5	RN141_HUMAN	H	192	ENSP00000265981:R192H	ENSP00000265981:R192H	R	-	2	0	RNF141	10493157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.067000	0.71193	2.704000	0.92352	0.650000	0.86243	CGC		0.383	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422		T	10536581	C	T	10536581	3	4	276	1	0	0	0	0	1	0	0	0	13444	768	27	1	121	1	RNF141	11	10536581	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	3452876	10536581	124469935	57	19782											
WT1	7490	broad.mit.edu	37	chr11	32421505	32421505	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcacctgaatgcctcTgaagacaccgtgcgtgtgta	8	11	11	11	2	2	3	1	2	1	1	2	3	2	3	3	0	3	2	3	0	3	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:32421505T>G	ENST00000379079.2	-	6	724	c.451A>C	c.(451-453)Aga>Cga	p.R151R	WT1_ENST00000332351.3_Silent_p.R363R|WT1_ENST00000530998.1_Silent_p.R134R|WT1_ENST00000448076.3_Silent_p.R363R	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	295					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAATGCCTCTGAAGACACCG	0.557			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.2			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	0		p.R362*(2)|p.R362fs*17(1)		NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM041491	WT1	M		c.(1087-1089)Aga>Cga		Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.							228	188	201					11																	32421505		2202	4299	6501	SO:0001819	synonymous_variant	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32421505T>G		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.451A>C	11.37:g.32421505T>G						WT1_uc001mtl.2_Silent_p.R151R|WT1_uc001mtm.2_Silent_p.R134R|WT1_uc001mto.2_Silent_p.R363R|WT1_uc001mtq.2_Silent_p.R346R|WT1_uc009yjs.2_Non-coding_Transcript	p.R363R	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		5	1277	-	Breast(20;0.247)		295					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.1087A>C	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	T	9.051	0.992145	0.18966	.	.	ENSG00000184937	ENST00000527882	.	.	.	5.98	3.65	0.41850	.	.	.	.	.	T	0.68366	0.2993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64744	-0.6335	4	.	.	.	.	13.229	0.59931	0.0:0.0:0.3133:0.6867	.	.	.	.	P	53	.	.	Q	-	2	0	WT1	32378081	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.712000	0.54875	0.493000	0.27837	-0.321000	0.08615	CAG		0.557	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		G	32421505	T	G	32421505	2	3	276	1	0	0	0	0	0	0	0	1	17405	1588	55	5		5	WT1	11	32421505	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	21884924	32421505	102585011	58	19783											
CHRM1	1128	broad.mit.edu	37	chr11	62677224	62677224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggagtgcggtgcacggagCcagggcgcttggggatcttg	6	7	20	8	3	1	0	0	0	1	0	1	3	1	3	1	6	3	2	1	6	0	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:62677224C>T	ENST00000306960.3	-	2	1890	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	450					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	GTGCACGGAGCCAGGGCGCTT	0.657																																						uc021qko.1																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1348-1350)gGc>gAc		Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						84	91	89					11																	62677224		2201	4298	6499	SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677224C>T	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1349G>A	11.37:g.62677224C>T	ENSP00000306490:p.Gly450Asp					CHRM1_uc001nwi.3_Missense_Mutation_p.G450D	p.G450D	NM_000738	NP_000729	P11229	ACM1_HUMAN			0	1349	-			450					Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.1349G>A	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041916	0.35989	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.59502	0.29;0.26	4.53	2.6	0.31112	.	0.418236	0.17360	N	0.177062	T	0.30947	0.0781	N	0.08118	0	0.20563	N	0.999881	B	0.21452	0.056	B	0.13407	0.009	T	0.18903	-1.0322	10	0.72032	D	0.01	-11.3875	2.8168	0.05458	0.1907:0.5242:0.1845:0.1006	.	450	P11229	ACM1_HUMAN	D	450	ENSP00000306490:G450D;ENSP00000441188:G450D	ENSP00000306490:G450D	G	-	2	0	CHRM1	62433800	0.015000	0.18098	0.079000	0.20413	0.834000	0.47266	0.758000	0.26447	0.476000	0.27440	0.561000	0.74099	GGC		0.657	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		T	62677224	C	T	62677224	3	4	276	1	0	0	0	0	1	0	0	0	3376	739	26	3	37	3	CHRM1	11	62677224	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	30255719	62677224	72329292	59	19784											
STIP1	10963	broad.mit.edu	37	chr11	63961718	63961718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgctttgaagaagccaagCgaacctatgaggagggctta	13	7	12	9	2	0	3	0	2	0	1	0	5	0	4	3	2	3	2	3	2	6	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:63961718C>T	ENST00000305218.4	+	3	424	c.277C>T	c.(277-279)Cga>Tga	p.R93*	STIP1_ENST00000358794.5_Nonsense_Mutation_p.R140*|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Nonsense_Mutation_p.R93*|STIP1_ENST00000538945.1_Intron	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	93					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAGCCAAGCGAACCTATGA	0.468																																						uc001nyk.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(277-279)Cga>Tga		Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.							106	104	105					11																	63961718		2201	4297	6498	SO:0001587	stop_gained	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63961718C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.277C>T	11.37:g.63961718C>T	ENSP00000305958:p.Arg93*					STIP1_uc001nyj.3_Nonsense_Mutation_p.R93*|STIP1_uc010rnb.1_Intron	p.R93*	NM_006819	NP_006810	P31948	STIP1_HUMAN			2	424	+			93					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Nonsense_Mutation	SNP	ENST00000305218.4	37	c.277C>T	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353191	0.82132	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	.	.	.	5.57	4.65	0.58169	.	0.778081	0.11856	N	0.522802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.9868	12.416	0.55494	0.4143:0.5857:0.0:0.0	.	.	.	.	X	140;93;93	.	ENSP00000305958:R93X	R	+	1	2	STIP1	63718294	0.995000	0.38212	0.997000	0.53966	0.933000	0.57130	0.992000	0.29667	1.479000	0.48272	0.650000	0.86243	CGA		0.468	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		T	63961718	C	T	63961718	4	4	276	1	0	0	0	0	0	1	0	0	15284	760	27	1	287	1	STIP1	11	63961718	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	1284494	63961718	71044798	60	19785											
GRAMD1B	57476	broad.mit.edu	37	chr11	123471245	123471245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccggctctggcagaatgctCtccttgaaaaggtaagtacg	10	10	11	10	2	2	2	0	1	2	1	4	2	3	2	2	3	2	5	2	3	5	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:123471245C>G	ENST00000529750.1	+	7	937	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.L211V|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.L204V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	204						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCAGAATGCTCTCCTTGAAAA	0.458																																						uc001pyw.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(631-633)Ctc>Gtc		Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.							92	86	88					11																	123471245		1862	4093	5955	SO:0001583	missense	57476					integral to membrane		g.chr11:123471245C>G	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.610C>G	11.37:g.123471245C>G	ENSP00000436500:p.Leu204Val					GRAMD1B_uc001pyx.2_Missense_Mutation_p.L204V|GRAMD1B_uc010rzw.2_Missense_Mutation_p.L164V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L164V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.L200V	p.L211V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	7	960	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	204					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.631C>G	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443459	0.63067	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.39229	1.49;1.49;1.48;1.53;1.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.63169	1.94	0.80722	D	1	P;P;B;P	0.48998	0.701;0.918;0.39;0.506	B;P;B;B	0.49332	0.403;0.607;0.054;0.196	T	0.46133	-0.9213	10	0.44086	T	0.13	.	13.1379	0.59419	0.0:0.927:0.0:0.073	.	164;211;204;211	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	V	211;211;204;204;164;200	ENSP00000402457:L211V;ENSP00000325628:L204V;ENSP00000436500:L204V;ENSP00000432987:L164V;ENSP00000434214:L200V	ENSP00000325628:L204V	L	+	1	0	GRAMD1B	122976455	1.000000	0.71417	0.984000	0.44739	0.758000	0.43043	6.033000	0.70925	2.696000	0.92011	0.591000	0.81541	CTC		0.458	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		G	123471245	C	G	123471245	3	3	276	1	0	0	0	0	1	0	0	0	6748	913	32	5	636	5	GRAMD1B	11	123471245	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	59509527	123471245	11535271	61	19786											
OVCH1	341350	broad.mit.edu	37	chr12	29630051	29630051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctttataatgtgcttcTctggagcacaaatgaaccaa	13	12	6	10	0	1	1	0	1	1	0	2	2	1	2	2	1	4	2	2	1	6	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:29630051T>C	ENST00000318184.5	-	12	1360	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	454	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATGTGCTTCTCTGGAGCACA	0.393																																						uc001rix.1																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1360-1362)gAg>gGg		Homo sapiens ovochymase 1 (OVCH1), mRNA.							80	79	79					12																	29630051		1888	4110	5998	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630051T>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1361A>G	12.37:g.29630051T>C	ENSP00000326708:p.Glu454Gly						p.E454G	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			11	1361	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		454			CUB 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1361A>G		.	.	.	.	.	.	.	.	.	.	T	6.608	0.480572	0.12581	.	.	ENSG00000187950	ENST00000318184	T	0.58210	0.35	2.73	-2.36	0.06663	CUB (5);	.	.	.	.	T	0.37625	0.1010	L	0.39467	1.215	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.25641	-1.0126	9	0.42905	T	0.14	.	5.716	0.17960	0.0:0.4222:0.1557:0.4222	.	454	Q7RTY7	OVCH1_HUMAN	G	454	ENSP00000326708:E454G	ENSP00000326708:E454G	E	-	2	0	OVCH1	29521318	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	-0.258000	0.08733	-0.581000	0.05937	-0.304000	0.09214	GAG		0.393	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		C	29630051	T	C	29630051	3	2	276	1	0	0	0	0	1	0	0	0	11323	1551	54	4	2111	4	OVCH1	12	29630051	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08		29630051	104221844	62	19787											
H3F3C	440093	broad.mit.edu	37	chr12	31944946	31944946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgacttctgataacgaCgaatctctcgaagcgccacg	10	8	10	13	7	2	1	0	1	2	0	5	5	2	1	1	1	2	0	1	1	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:31944946C>T	ENST00000340398.3	-	1	229	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	52					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATAACGACGAATCTCTCG	0.582										HNSCC(67;0.2)																												uc001rkr.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(154-156)cGt>cAt		Homo sapiens H3 histone, family 3C (H3F3C), mRNA.							73	68	70					12																	31944946		2203	4300	6503	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944946C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.155G>A	12.37:g.31944946C>T	ENSP00000339835:p.Arg52His	HNSCC(67;0.2)					p.R52H	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			0	230	-			52					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.155G>A	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003448	0.19121	.	.	ENSG00000188375	ENST00000340398	T	0.52983	0.64	0.811	-0.295	0.12828	Histone-fold (2);	0.516883	0.11381	U	0.569819	T	0.60843	0.2300	H	0.99011	4.4	0.31898	N	0.616365	B	0.22346	0.068	B	0.16289	0.015	T	0.62459	-0.6850	10	0.66056	D	0.02	.	5.2632	0.15586	0.0:0.7553:0.0:0.2447	.	52	Q6NXT2	H3C_HUMAN	H	52	ENSP00000339835:R52H	ENSP00000339835:R52H	R	-	2	0	H3F3C	31836213	0.999000	0.42202	0.001000	0.08648	0.097000	0.18754	5.337000	0.65941	-0.094000	0.12374	0.413000	0.27773	CGT		0.582	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		T	31944946	C	T	31944946	3	4	276	1	0	0	0	0	1	0	0	0	6935	536	19	1	256	1	H3F3C	12	31944946	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	2314895	31944946	101906949	63	19788											
GALNT6	11226	broad.mit.edu	37	chr12	51773383	51773383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgaatctctaaggttgttCatggcctccagcatgaggtc	9	13	10	9	0	2	2	1	2	1	0	5	2	3	2	2	3	1	3	2	3	2	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:51773383C>T	ENST00000543196.2	-	2	388	c.183G>A	c.(181-183)atG>atA	p.M61I	GALNT6_ENST00000603203.1_5'Flank|GALNT6_ENST00000356317.3_Missense_Mutation_p.M61I			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	61					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAAGGTTGTTCATGGCCTCCA	0.552																																						uc001ryk.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(181-183)atG>atA		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.							86	89	88					12																	51773383		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51773383C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.183G>A	12.37:g.51773383C>T	ENSP00000444171:p.Met61Ile					GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.M61I|GALNT6_uc010snh.1_Missense_Mutation_p.M61I	p.M61I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			1	408	-			61					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.183G>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698693	0.30142	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26373	1.74;1.74	4.52	1.57	0.23409	.	0.631761	0.13655	N	0.371994	T	0.15435	0.0372	N	0.24115	0.695	0.21652	N	0.999602	B	0.12013	0.005	B	0.08055	0.003	T	0.27365	-1.0076	10	0.23302	T	0.38	.	9.3612	0.38197	0.0:0.51:0.4092:0.0808	.	61	Q8NCL4	GALT6_HUMAN	I	61;61;42	ENSP00000444171:M61I;ENSP00000348668:M61I	ENSP00000348668:M61I	M	-	3	0	GALNT6	50059650	0.782000	0.28689	0.888000	0.34837	0.715000	0.41141	-0.218000	0.09240	0.354000	0.24105	-0.137000	0.14449	ATG		0.552	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		T	51773383	C	T	51773383	3	4	276	1	0	0	0	0	1	0	0	0	6217	826	29	3	1725	3	GALNT6	12	51773383	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	19828437	51773383	82078512	64	19789											
OR6C1	390321	broad.mit.edu	37	chr12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctccatattagaaatttCgttcacaaccgtcagtatac	12	15	4	10	2	3	1	2	0	1	1	5	1	3	1	2	0	2	2	2	0	6	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:55714592C>T	ENST00000379668.2	+	1	247	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378																																						uc010spi.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(208-210)tCg>tTg		Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.							57	58	57					12																	55714592		2202	4300	6502	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714592C>T	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.209C>T	12.37:g.55714592C>T	ENSP00000368990:p.Ser70Leu						p.S70L	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			0	209	+			70					B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.209C>T	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473039	0.43942	.	.	ENSG00000205330	ENST00000379668	T	0.00428	7.44	4.84	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.134020	0.34652	N	0.003796	T	0.00300	0.0009	L	0.38838	1.175	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.43147	-0.9409	10	0.42905	T	0.14	.	8.5802	0.33623	0.0:0.7594:0.1544:0.0862	.	70	Q96RD1	OR6C1_HUMAN	L	70	ENSP00000368990:S70L	ENSP00000368990:S70L	S	+	2	0	OR6C1	54000859	0.002000	0.14202	0.540000	0.28089	0.930000	0.56654	0.601000	0.24119	1.260000	0.44134	0.455000	0.32223	TCG		0.378	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		T	55714592	C	T	55714592	3	4	276	1	0	0	0	0	1	0	0	0	11190	893	31	2	211	2	OR6C1	12	55714592	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	3941209	55714592	78137303	65	19790											
GLT8D2	83468	broad.mit.edu	37	chr12	104387178	104387178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatacttacccaggtgcCttatgtgccacagggggtta	10	11	11	9	0	0	1	0	1	0	0	0	1	0	1	3	3	4	1	3	3	5	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:104387178C>G	ENST00000360814.4	-	10	1277	c.872G>C	c.(871-873)aGg>aCg	p.R291T	GLT8D2_ENST00000546436.1_Missense_Mutation_p.R291T|GLT8D2_ENST00000548660.1_Missense_Mutation_p.R291T	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	291						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACCCAGGTGCCTTATGTGCCA	0.458																																						uc001tkh.1																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(871-873)aGg>aCg		Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.							62	61	61					12																	104387178		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104387178C>G	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.872G>C	12.37:g.104387178C>G	ENSP00000354053:p.Arg291Thr					GLT8D2_uc001tki.1_Missense_Mutation_p.R291T	p.R291T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			9	1429	-			291					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.872G>C	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846904	0.91277	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.39592	1.07;1.07;1.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64765	-0.6330	10	0.23302	T	0.38	.	19.2521	0.93929	0.0:1.0:0.0:0.0	.	291	Q9H1C3	GL8D2_HUMAN	T	291	ENSP00000354053:R291T;ENSP00000449750:R291T;ENSP00000447450:R291T	ENSP00000354053:R291T	R	-	2	0	GLT8D2	102911308	0.970000	0.33590	0.967000	0.41034	0.980000	0.70556	6.090000	0.71397	2.557000	0.86248	0.655000	0.94253	AGG		0.458	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		G	104387178	C	G	104387178	3	3	276	1	0	0	0	0	1	0	0	0	6470	681	24	5	185	5	GLT8D2	12	104387178	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	48672586	104387178	29464717	66	19791											
DCLK1	9201	broad.mit.edu	37	chr13	36686060	36686060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcccgagtccagcttgatGgcatcggtgatatcggtgag	8	10	13	10	3	0	3	0	3	0	0	4	4	2	3	2	3	1	2	2	3	1	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36686060G>A	ENST00000360631.3	-	3	880	c.669C>T	c.(667-669)gcC>gcT	p.A223A	DCLK1_ENST00000255448.4_Silent_p.A223A|DCLK1_ENST00000379892.4_Silent_p.A223A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	223	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGCTTGATGGCATCGGTGA	0.488																																						uc001uvf.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(667-669)gcC>gcT		Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.							153	128	137					13																	36686060		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686060G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.669C>T	13.37:g.36686060G>A							p.A223A	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	952	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	223			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.669C>T																																																																																					0.488	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		A	36686060	G	A	36686060	2	1	276	1	0	0	0	0	0	0	0	1	4291	1335	47	3		3	DCLK1	13	36686060	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		36686060	78483818	67	19792											
SPG20	23111	broad.mit.edu	37	chr13	36909291	36909291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaaaaatctgtactccaTttggtatcaaaatcaattca	18	12	3	8	0	4	0	3	0	1	0	5	0	5	0	1	1	1	2	1	1	9	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36909291T>C	ENST00000451493.1	-	2	894	c.677A>G	c.(676-678)aAt>aGt	p.N226S	SPG20_ENST00000494062.2_Missense_Mutation_p.N226S|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.N226S|SPG20_ENST00000438666.2_Missense_Mutation_p.N226S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	226					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGTACTCCATTTGGTATCAA	0.423																																						uc001uvn.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(676-678)aAt>aGt		Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.							65	67	66					13																	36909291		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909291T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.677A>G	13.37:g.36909291T>C	ENSP00000414147:p.Asn226Ser					SPG20_uc010ten.2_Missense_Mutation_p.N226S|SPG20_uc001uvm.3_Missense_Mutation_p.N226S|SPG20_uc001uvo.3_Missense_Mutation_p.N226S|SPG20_uc001uvq.3_Missense_Mutation_p.N226S|SPG20_uc001uvp.2_Missense_Mutation_p.N226S	p.N226S	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	947	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	226					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.677A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	6.233	0.411120	0.11812	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88201	-2.35;-2.35;-2.35	5.82	2.21	0.28008	.	0.423244	0.29980	N	0.010705	T	0.74794	0.3763	N	0.16602	0.42	0.09310	N	0.999999	B;B;B	0.19445	0.036;0.013;0.036	B;B;B	0.18263	0.021;0.007;0.021	T	0.56517	-0.7966	10	0.06099	T	0.92	-22.2218	8.9073	0.35532	0.0:0.3281:0.0:0.6719	.	226;226;226	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	S	226	ENSP00000406061:N226S;ENSP00000347314:N226S;ENSP00000414147:N226S	ENSP00000347314:N226S	N	-	2	0	SPG20	35807291	0.797000	0.28877	0.996000	0.52242	0.955000	0.61496	0.934000	0.28910	0.481000	0.27557	-0.256000	0.11100	AAT		0.423	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			C	36909291	T	C	36909291	3	2	276	1	0	0	0	0	1	0	0	0	15041	1493	52	4	1355	4	SPG20	13	36909291	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	223231	36909291	78260587	68	19793											
CTSG	1511	broad.mit.edu	37	chr14	25043946	25043946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcggatggctctgcGcgcagtgatgtgttgctggg	4	10	20	7	3	1	1	0	1	1	0	1	2	1	2	0	5	2	4	0	5	0	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:25043946G>A	ENST00000216336.2	-	3	310	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATGGCTCTGCGCGCAGTGATG	0.532																																						uc001wpq.3																			0		p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(274-276)Cgc>Tgc		Homo sapiens cathepsin G (CTSG), mRNA.							210	168	182					14																	25043946		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043946G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.274C>T	14.37:g.25043946G>A	ENSP00000216336:p.Arg92Cys						p.R92C	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	311	-			92			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.274C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371465	0.42003	.	.	ENSG00000100448	ENST00000216336	D	0.89196	-2.48	4.48	0.459	0.16678	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.097600	0.07224	N	0.861382	D	0.89238	0.6658	L	0.39898	1.24	0.09310	N	1	D	0.69078	0.997	D	0.66497	0.944	T	0.76214	-0.3041	10	0.56958	D	0.05	.	2.7097	0.05171	0.0919:0.1609:0.4158:0.3314	.	92	P08311	CATG_HUMAN	C	92	ENSP00000216336:R92C	ENSP00000216336:R92C	R	-	1	0	CTSG	24113786	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.594000	0.24014	0.083000	0.17047	-0.169000	0.13324	CGC		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		A	25043946	G	A	25043946	3	1	276	1	0	0	0	0	1	0	0	0	4035	1087	38	1	505	1	CTSG	14	25043946	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		25043946	82305594	69	19794											
ARHGAP5	394	broad.mit.edu	37	chr14	32560334	32560334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaatgcctgaagggaaGctcaacgtagatggattttt	14	10	11	6	1	1	2	1	1	0	1	1	4	1	4	1	2	4	3	1	2	6	3	rs374638293		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:32560334G>A	ENST00000345122.3	+	2	774	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ARHGAP5_ENST00000539826.2_Silent_p.K153K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.K153K|ARHGAP5_ENST00000556611.1_Silent_p.K153K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	153					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGAAGGGAAGCTCAACGTAG	0.363																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(457-459)aaG>aaA		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.		G	,	0,4406		0,0,2203	91	86	88		459,459	3.6	1	14		88	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ARHGAP5	NM_001030055.1,NM_001173.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	153/1503,153/1502	32560334	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560334G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.459G>A	14.37:g.32560334G>A						ARHGAP5_uc001wrm.3_Silent_p.K153K|ARHGAP5_uc001wrn.3_Silent_p.K153K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.K153K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	698	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		153					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.459G>A	CCDS32062.1																																																																																				0.363	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		A	32560334	G	A	32560334	2	1	276	1	0	0	0	0	0	0	0	1	886	962	34	3		3	ARHGAP5	14	32560334	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	7516388	32560334	74789206	70	19795											
PTGDR	5729	broad.mit.edu	37	chr14	52735336	52735336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcacctcctgctgctggcGctgatgaccgtgctcttcac	5	11	10	15	2	3	2	2	2	1	0	4	3	4	2	3	1	3	4	3	1	0	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:52735336G>A	ENST00000306051.2	+	1	906	c.804G>A	c.(802-804)gcG>gcA	p.A268A	PTGDR_ENST00000553372.1_Silent_p.A268A	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	268					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCTGCTGGCGCTGATGACCG	0.687																																						uc001wzq.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(802-804)gcG>gcA		Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	Nedocromil(DB00716)						103	106	105					14																	52735336		2179	4244	6423	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735336G>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.804G>A	14.37:g.52735336G>A							p.A268A	NM_000953	NP_000944	Q13258	PD2R_HUMAN			0	906	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		268					G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.804G>A	CCDS9707.1																																																																																				0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		A	52735336	G	A	52735336	2	1	276	1	0	0	0	0	0	0	0	1	12741	1074	38	1		1	PTGDR	14	52735336	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	20175002	52735336	54614204	71	19796											
CDAN1	146059	broad.mit.edu	37	chr15	43028860	43028860	+	Frame_Shift_Del	DEL	G	G	-																															ccggggtcttggcgggggtcGggggcccctgcgggaggacg																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43028860delG	ENST00000356231.3	-	2	232	c.209delC	c.(208-210)ccgfs	p.P70fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	70					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCGGGGGTCGGGGGCCCCTG	0.736																																						uc001zql.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(208-210)ccgfs		Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.							3	3	3					15																	43028860		1461	3168	4629	SO:0001589	frameshift_variant	146059					integral to membrane	protein binding	g.chr15:43028860delG	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.209delC	15.37:g.43028860delG	ENSP00000348564:p.Pro70fs					CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	p.P70fs	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	1	326	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	70					Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Del	DEL	ENST00000356231.3	37	c.209delC	CCDS32209.1																																																																																				0.736	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		-	43028860	G	-	43028860	7	5	276	1	0	1	0	1	0	0	0	0	3054	1116	39	0	3582	0	CDAN1	15	43028860	Frame_Shift_Del	DEL	G	TCGA-76-6660-01A-11D-1845-08		43028860	59502532	72	19797											
TGM7	116179	broad.mit.edu	37	chr15	43571424	43571424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcggatgagcttttcgtccGttagcttgtttctgtaattg	5	17	11	8	4	1	1	0	1	1	0	3	2	2	2	1	1	2	5	1	1	2	7	rs369585501		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43571424G>A	ENST00000452443.2	-	11	1734	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	577					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T577M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTTTCGTCCGTTAGCTTGTT	0.527																																						uc001zrf.1																			1	Substitution - Missense(1)	p.T577M(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1729-1731)aCg>aTg		Homo sapiens transglutaminase 7 (TGM7), mRNA.	L-Glutamine(DB00130)	G	MET/THR	0,4404		0,0,2202	88	75	79		1730	2.4	0.8	15		79	1,8597	1.2+/-3.3	0,1,4298	no	missense	TGM7	NM_052955.2	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	577/711	43571424	1,13001	2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43571424G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1730C>T	15.37:g.43571424G>A	ENSP00000389466:p.Thr577Met						p.T577M	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	10	1735	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	577						Missense_Mutation	SNP	ENST00000452443.2	37	c.1730C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.065996	0.55539	0.0	1.16E-4	ENSG00000159495	ENST00000452443	T	0.33216	1.42	5.42	2.36	0.29203	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.393578	0.26746	N	0.022704	T	0.43523	0.1251	M	0.74647	2.275	0.09310	N	1	D	0.76494	0.999	P	0.60117	0.869	T	0.16217	-1.0410	10	0.46703	T	0.11	-8.078	4.7992	0.13289	0.1956:0.1919:0.6125:0.0	.	577	Q96PF1	TGM7_HUMAN	M	577	ENSP00000389466:T577M	ENSP00000389466:T577M	T	-	2	0	TGM7	41358716	0.998000	0.40836	0.830000	0.32933	0.909000	0.53808	2.101000	0.41787	1.292000	0.44672	0.655000	0.94253	ACG		0.527	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		A	43571424	G	A	43571424	3	1	276	1	0	0	0	0	1	0	0	0	15832	1145	40	1	414	1	TGM7	15	43571424	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	542564	43571424	58959968	73	19798											
ATP8B4	79895	broad.mit.edu	37	chr15	50226281	50226281	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggaattcatgaactttGggatcacccattttaatgga	13	13	8	7	0	2	1	2	1	0	0	2	4	2	4	1	3	1	0	1	3	4	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:50226281G>T	ENST00000284509.6	-	15	1527	c.1386C>A	c.(1384-1386)ccC>ccA	p.P462P	ATP8B4_ENST00000559829.1_Silent_p.P462P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	462						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATGAACTTTGGGATCACCCA	0.413																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1384-1386)ccC>ccA		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							132	126	128					15																	50226281		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50226281G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1386C>A	15.37:g.50226281G>T						ATP8B4_uc010ber.3_Silent_p.P335P|ATP8B4_uc010ufd.2_Silent_p.P335P|ATP8B4_uc010ufe.2_Non-coding_Transcript	p.P462P	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	14	1528	-		all_lung(180;0.00183)	462					Q9H727	Silent	SNP	ENST00000284509.6	37	c.1386C>A	CCDS32238.1																																																																																				0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50226281	G	T	50226281	2	4	276	1	0	0	0	0	0	0	0	1	1197	1335	47	5		5	ATP8B4	15	50226281	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	6654857	50226281	52305111	74	19799											
NEDD4	4734	broad.mit.edu	37	chr15	56207523	56207523	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgcaatctctgttgcTgtctcttgataaattatcca	9	18	6	8	0	2	1	0	1	2	0	5	1	3	1	1	0	2	3	1	0	4	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:56207523T>G	ENST00000508342.1	-	1	1806	c.1507A>C	c.(1507-1509)Agc>Cgc	p.S503R	NEDD4_ENST00000338963.2_Missense_Mutation_p.S503R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.S503R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	503					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCTCTGTTGCTGTCTCTTGAT	0.338																																						uc002adj.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1507-1509)Agc>Cgc		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.							112	114	113					15																	56207523		2192	4291	6483	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207523T>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1507A>C	15.37:g.56207523T>G	ENSP00000424827:p.Ser503Arg					NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.S503R|NEDD4_uc010ugj.2_Missense_Mutation_p.S503R|NEDD4_uc010bfm.3_Missense_Mutation_p.S503R|NEDD4_uc002adk.3_Non-coding_Transcript	p.S503R	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	0	1807	-			503					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1507A>C		.	.	.	.	.	.	.	.	.	.	T	11.48	1.650686	0.29336	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.23552	1.9;1.95;1.91	4.65	3.5	0.40072	.	5.160690	0.01092	U	0.005192	T	0.31918	0.0812	L	0.54323	1.7	0.09310	N	1	B;B;B	0.31040	0.001;0.001;0.305	B;B;B	0.32342	0.003;0.001;0.144	T	0.32161	-0.9917	10	0.54805	T	0.06	.	9.6145	0.39683	0.0:0.0844:0.0:0.9156	.	503;503;503	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	R	503	ENSP00000424827:S503R;ENSP00000345530:S503R;ENSP00000422705:S503R	ENSP00000345530:S503R	S	-	1	0	NEDD4	53994815	0.954000	0.32549	0.007000	0.13788	0.995000	0.86356	1.972000	0.40540	0.623000	0.30267	0.377000	0.23210	AGC		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		G	56207523	T	G	56207523	3	3	276	1	0	0	0	0	1	0	0	0	10310	1580	55	5	2552	5	NEDD4	15	56207523	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	5981242	56207523	46323869	75	19800											
KIAA1024	23251	broad.mit.edu	37	chr15	79748562	79748562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacagcaagcaaaataccGtttcttatcaggacctgtgc	12	10	9	10	1	2	0	1	0	1	0	2	2	2	2	2	2	4	3	2	2	5	3	rs200499208		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:79748562G>A	ENST00000305428.3	+	2	148	c.73G>A	c.(73-75)Gtt>Att	p.V25I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	25						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCAAAATACCGTTTCTTATCA	0.478																																						uc002bew.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(73-75)Gtt>Att		Homo sapiens KIAA1024 (KIAA1024), mRNA.							113	104	107					15																	79748562		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748562G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.73G>A	15.37:g.79748562G>A	ENSP00000307461:p.Val25Ile					KIAA1024_uc010unk.1_Missense_Mutation_p.V25I	p.V25I	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			1	148	+			25					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.73G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216577	0.39201	.	.	ENSG00000169330	ENST00000305428	T	0.34859	1.34	5.71	3.83	0.44106	.	0.277172	0.35495	N	0.003180	T	0.27967	0.0689	L	0.40543	1.245	0.09310	N	0.999993	B	0.18968	0.032	B	0.10450	0.005	T	0.13495	-1.0507	9	.	.	.	.	11.5706	0.50832	0.1433:0.0:0.8567:0.0	.	25	Q9UPX6	K1024_HUMAN	I	25	ENSP00000307461:V25I	.	V	+	1	0	KIAA1024	77535617	0.997000	0.39634	0.008000	0.14137	0.937000	0.57800	2.539000	0.45718	1.409000	0.46915	0.467000	0.42956	GTT		0.478	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		A	79748562	G	A	79748562	3	1	276	1	0	0	0	0	1	0	0	0	8205	1145	40	1	75	1	KIAA1024	15	79748562	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	23541039	79748562	22782830	76	19801											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84659966	84659966	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatccgatgtcctgtaaaaGgtaagtgtggtcatttcagt	11	13	10	7	1	2	0	2	0	0	0	4	1	4	0	2	2	0	2	2	2	4	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:84659966G>T	ENST00000286744.5	+	23	4197	c.3973G>T	c.(3973-3975)Ggt>Tgt	p.G1325C	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCTGTAAAAGGTAAGTGTGG	0.502																																						uc002bjz.4																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.e23+1		Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.							205	188	194					15																	84659966		2203	4299	6502	SO:0001630	splice_region_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84659966G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3973+1G>T	15.37:g.84659966G>T						ADAMTSL3_uc010bmt.1_Splice_Site_p.G1325_splice	p.G1325_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		23	4197	+			1325			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3973_splice	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771109	0.69992	.	.	ENSG00000156218	ENST00000286744	T	0.80123	-1.34	5.21	5.21	0.72293	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94152	0.8124	H	0.98646	4.29	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.951	D	0.96512	0.9379	9	0.87932	D	0	.	18.774	0.91902	0.0:0.0:1.0:0.0	.	1325;1325	P82987-2;P82987	.;ATL3_HUMAN	C	1325	ENSP00000286744:G1325C	ENSP00000286744:G1325C	G	+	1	0	ADAMTSL3	82450970	1.000000	0.71417	0.892000	0.35008	0.657000	0.38888	5.562000	0.67346	2.415000	0.81967	0.561000	0.74099	GGT		0.502	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	Missense_Mutation	T	84659966	G	T	84659966	5	4	276	1	0	0	0	0	0	0	1	0	276	1014	35	5	4059	5	ADAMTSL3	15	84659966	Splice_Site	SNP	G	TCGA-76-6660-01A-11D-1845-08	4911404	84659966	17871426	77	19802											
CHD9	80205	broad.mit.edu	37	chr16	53338029	53338037	+	In_Frame_Del	DEL	TAAAGGTAT	TAAAGGTAT	-																															ctacctaggctcctagatgcTaaaggtattattctagagga																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:53338029_53338037delTAAAGGTAT	ENST00000398510.3	+	30	6198_6206	c.6111_6119delTAAAGGTAT	c.(6109-6120)gctaaaggtatt>gct	p.KGI2038del	CHD9_ENST00000447540.1_In_Frame_Del_p.KGI2038del|CHD9_ENST00000564845.1_In_Frame_Del_p.KGI2038del|CHD9_ENST00000566029.1_In_Frame_Del_p.KGI2038del			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2038					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCTAGATGCTAAAGGTATTATTCTAGAG	0.407																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6109-6120)gctaaaggtatt>gct		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.																																				SO:0001651	inframe_deletion	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338029_53338037delTAAAGGTAT	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6111_6119delTAAAGGTAT	16.37:g.53338029_53338037delTAAAGGTAT	ENSP00000381522:p.Lys2038_Ile2040del					CHD9_uc002egy.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehc.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehf.3_In_Frame_Del_p.KGI1152del|CHD9_uc002ehg.2_In_Frame_Del_p.KGI1152del|CHD9_uc010cbw.3_Intron	p.KGI2038del	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			29	6275_6283	+		all_cancers(37;0.0212)	2038					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	In_Frame_Del	DEL	ENST00000398510.3	37	c.6111_6119delTAAAGGTAT																																																																																					0.407	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		-	53338037	TAAAGGTAT	-	53338029	7	5	276	1	0	1	0	1	0	0	0	0	3332	1509	53	0	6229	0	CHD9	16	53338029	In_Frame_Del	DEL	TAAAGGTAT	TCGA-76-6660-01A-11D-1845-08		53338029	37016724	78	19803											
MYH13	8735	broad.mit.edu	37	chr17	10209843	10209843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcagcctcatctagaCggtgctgcaggtccttcacc	6	12	10	13	1	4	1	3	0	1	1	5	1	5	1	3	2	3	4	3	2	1	4	rs187155752	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10209843C>T	ENST00000418404.3	-	36	5562	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1800H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1800					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCATCTAGACGGTGCTGCAG	0.547													C|||	7	0.00139776	0	0	5008	,	,		17774	0.0069		0	False		,,,				2504	0					uc002gmk.1																			0		p.H1799N(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5398-5400)cGt>cAt		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							164	167	166					17																	10209843		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209843C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5399G>A	17.37:g.10209843C>T	ENSP00000404570:p.Arg1800His						p.R1800H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			36	5489	-			1800					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5399G>A	CCDS45613.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	29.2	4.985848	0.93044	.	.	ENSG00000006788	ENST00000252172	D	0.82526	-1.62	4.31	4.31	0.51392	Myosin tail (1);	.	.	.	.	D	0.92802	0.7711	H	0.97918	4.105	0.47949	D	0.999559	D	0.89917	1.0	D	0.87578	0.998	D	0.95033	0.8171	9	0.87932	D	0	.	17.3485	0.87316	0.0:1.0:0.0:0.0	.	1800	Q9UKX3	MYH13_HUMAN	H	1800	ENSP00000252172:R1800H	ENSP00000252172:R1800H	R	-	2	0	MYH13	10150568	0.998000	0.40836	1.000000	0.80357	0.926000	0.56050	3.924000	0.56476	2.395000	0.81488	0.561000	0.74099	CGT		0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10209843	C	T	10209843	3	4	276	1	0	0	0	0	1	0	0	0	10032	536	19	1	437	1	MYH13	17	10209843	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		10209843	70985367	79	19804											
MYH8	4626	broad.mit.edu	37	chr17	10322097	10322097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaggggttgacggtgaCacagaagaggcctgagtagg	10	8	17	6	1	0	5	0	3	0	2	0	5	0	5	1	5	0	3	1	5	3	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10322097C>A	ENST00000403437.2	-	5	470	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	126	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(376-378)Gtc>Ttc		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							53	59	57					17																	10322097		2198	4279	6477	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10322097C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.376G>T	17.37:g.10322097C>A	ENSP00000384330:p.Val126Phe					AK097500_uc002gml.1_Intron	p.V126F	NM_002472	NP_002463	P13535	MYH8_HUMAN			4	471	-			126			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.376G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562980	0.65538	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91351	-2.83	3.73	3.73	0.42828	Myosin head, motor domain (3);	0.000000	0.37577	U	0.002024	D	0.94709	0.8293	H	0.96430	3.82	0.58432	D	0.99999	B	0.27068	0.167	B	0.37601	0.254	D	0.95772	0.8809	10	0.87932	D	0	.	16.034	0.80608	0.0:1.0:0.0:0.0	.	126	P13535	MYH8_HUMAN	F	126	ENSP00000384330:V126F	ENSP00000252173:V126F	V	-	1	0	MYH8	10262822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.518000	0.81795	2.085000	0.62840	0.585000	0.79938	GTC		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10322097	C	A	10322097	3	1	276	1	0	0	0	0	1	0	0	0	10041	478	17	5	5581	5	MYH8	17	10322097	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	112254	10322097	70873113	80	19805											
XYLT2	64132	broad.mit.edu	37	chr17	48435599	48435599	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgggaccccaaagagcgtcTtttccggaactttggggggt	7	11	14	9	2	1	1	0	0	1	1	2	3	2	3	3	5	2	0	3	5	2	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:48435599T>C	ENST00000017003.2	+	10	2022	c.1973T>C	c.(1972-1974)cTt>cCt	p.L658P	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	658					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AAAGAGCGTCTTTTCCGGAAC	0.637																																						uc002iqo.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1972-1974)cTt>cCt		Homo sapiens xylosyltransferase II (XYLT2), mRNA.							20	21	21					17																	48435599		2203	4298	6501	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48435599T>C	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1973T>C	17.37:g.48435599T>C	ENSP00000017003:p.Leu658Pro					XYLT2_uc010dbo.3_Non-coding_Transcript	p.L658P	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			9	2082	+	Breast(11;7.18e-19)		658					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.1973T>C	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852984	0.51270	.	.	ENSG00000015532	ENST00000017003	T	0.50548	0.74	4.63	4.63	0.57726	.	0.179023	0.48286	D	0.000187	T	0.59702	0.2213	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.63699	-0.6578	10	0.87932	D	0	-6.2991	14.2199	0.65820	0.0:0.0:0.0:1.0	.	658	Q9H1B5	XYLT2_HUMAN	P	658	ENSP00000017003:L658P	ENSP00000017003:L658P	L	+	2	0	XYLT2	45790598	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.778000	0.85637	1.960000	0.56953	0.459000	0.35465	CTT		0.637	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		C	48435599	T	C	48435599	3	2	276	1	0	0	0	0	1	0	0	0	17461	1609	56	4	2011	4	XYLT2	17	48435599	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	38113502	48435599	32759611	81	19806											
RNF43	54894	broad.mit.edu	37	chr17	56492699	56492699	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttgcctgcattaatttTccttctgctggagttatttc	7	19	6	9	0	1	0	0	0	1	0	3	1	2	1	2	1	4	3	2	1	3	8			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:56492699T>C	ENST00000584437.1	-	1	2195	c.240A>G	c.(238-240)ggA>ggG	p.G80G	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Silent_p.G80G|RNF43_ENST00000500597.2_Silent_p.G80G|RNF43_ENST00000407977.2_Silent_p.G80G|RNF43_ENST00000577716.1_Silent_p.G80G|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	80					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTAATTTTCCTTCTGCTG	0.378																																						uc002iwf.3																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(238-240)ggA>ggG		Homo sapiens ring finger protein 43 (RNF43), mRNA.							62	61	62					17																	56492699		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492699T>C		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.240A>G	17.37:g.56492699T>C						RNF43_uc010wnv.2_Silent_p.G80G|RNF43_uc002iwh.4_Silent_p.G80G|RNF43_uc002iwg.4_Silent_p.G80G|RNF43_uc010dcw.3_Intron	p.G80G	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			0	2196	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		80					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.240A>G	CCDS11607.1																																																																																				0.378	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		C	56492699	T	C	56492699	2	2	276	1	0	0	0	0	0	0	0	1	13495	1770	62	4		4	RNF43	17	56492699	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	8057100	56492699	24702511	82	19807											
DDX5	1655	broad.mit.edu	37	chr17	62502217	62502217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcccggccgcggtctcgGtcactcgaataacccgacat	7	7	11	16	7	2	0	1	0	1	0	5	2	3	0	3	4	1	0	3	4	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:62502217G>C	ENST00000225792.5	-	1	422	c.21C>G	c.(19-21)gaC>gaG	p.D7E	CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000578804.1_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.D7E|CEP95_ENST00000581056.1_5'Flank|CEP95_ENST00000553412.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	7					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CGCGGTCTCGGTCACTCGAAT	0.657			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19								Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.							29	28	28					17																	62502217		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62502217G>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.21C>G	17.37:g.62502217G>C	ENSP00000225792:p.Asp7Glu					CEP95_uc002jem.3_5'Flank|CEP95_uc002jen.3_5'Flank|CEP95_uc010wqb.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.D7E|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.D7E|DDX5_uc002jel.1_5'Flank		NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)				-	Breast(5;2.15e-14)							B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37		CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840503	0.51057	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T;T;T	0.29397	1.57;1.57;1.57	5.53	4.56	0.56223	.	0.902894	0.09392	N	0.808480	T	0.37892	0.1020	M	0.78916	2.43	0.80722	D	1	B;B	0.13145	0.007;0.003	B;B	0.08055	0.003;0.003	T	0.17258	-1.0375	10	0.51188	T	0.08	-2.4128	10.4698	0.44629	0.0706:0.0:0.7955:0.1339	.	7;7	B4DLW8;P17844	.;DDX5_HUMAN	E	7	ENSP00000440276:D7E;ENSP00000403085:D7E;ENSP00000225792:D7E	ENSP00000225792:D7E	D	-	3	2	DDX5	59932679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.506000	0.60428	1.334000	0.45468	0.561000	0.74099	GAC		0.657	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		C	62502217	G	C	62502217	3	2	276	1	0	0	0	0	1	0	0	0	4367	1252	44	5	1875	5	DDX5	17	62502217	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	6009518	62502217	18692993	83	19808											
LAMA1	284217	broad.mit.edu	37	chr18	6956660	6956660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccggggctctggcaagAgcttgctgtcctctgcatcg	6	9	13	13	2	2	1	0	0	2	1	4	1	3	1	2	3	4	5	2	3	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:6956660A>T	ENST00000389658.3	-	56	8162	c.8069T>A	c.(8068-8070)cTc>cAc	p.L2690H	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2690					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCTGGCAAGAGCTTGCTGTC	0.552																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8068-8070)cTc>cAc		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65	70	68					18																	6956660		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956660A>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8069T>A	18.37:g.6956660A>T	ENSP00000374309:p.Leu2690His					LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.L143H|LAMA1_uc010wzj.2_Missense_Mutation_p.L2166H	p.L2690H	NM_005559	NP_005550	P25391	LAMA1_HUMAN			55	8163	-		Colorectal(10;0.172)	2690						Missense_Mutation	SNP	ENST00000389658.3	37	c.8069T>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951513	0.53186	.	.	ENSG00000101680	ENST00000389658;ENST00000344342	T	0.18960	2.18	5.48	-0.164	0.13359	.	0.967927	0.08465	N	0.941811	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	1	B	0.18968	0.032	B	0.14578	0.011	T	0.32322	-0.9911	10	0.56958	D	0.05	.	8.4255	0.32727	0.5558:0.3769:0.0673:0.0	.	2690	P25391	LAMA1_HUMAN	H	2690;141	ENSP00000374309:L2690H	ENSP00000341000:L141H	L	-	2	0	LAMA1	6946660	0.495000	0.26051	0.000000	0.03702	0.009000	0.06853	0.860000	0.27871	0.031000	0.15407	0.533000	0.62120	CTC		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6956660	A	T	6956660	3	4	276	1	0	0	0	0	1	0	0	0	8605	304	11	5	1190	5	LAMA1	18	6956660	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		6956660	71120588	84	19809											
RIT2	6014	broad.mit.edu	37	chr18	40554049	40554049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacctacctggccagcaGtgtccaagatgtccaagtaa	12	8	8	13	0	1	1	1	0	0	1	3	1	3	1	5	1	2	2	5	1	4	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:40554049G>T	ENST00000326695.5	-	3	395	c.224C>A	c.(223-225)aCt>aAt	p.T75N	RIT2_ENST00000589109.1_Missense_Mutation_p.T75N|RIT2_ENST00000590910.1_Missense_Mutation_p.T75N|RIT2_ENST00000282028.4_Missense_Mutation_p.T75N	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	75					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCCAGCAGTGTCCAAGAT	0.368																																						uc002lav.3																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(223-225)aCt>aAt		Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.							77	67	70					18																	40554049		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40554049G>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"Ric (Drosophila)-like, expressed in neurons"	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.224C>A	18.37:g.40554049G>T	ENSP00000321805:p.Thr75Asn					RIT2_uc010dnf.3_Missense_Mutation_p.T75N	p.T75N	NM_002930	NP_002921	Q99578	RIT2_HUMAN			2	397	-			75					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.224C>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155530	0.78114	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	D;D	0.87966	-2.32;-2.32	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000006	D	0.96769	0.8945	H	0.99659	4.685	0.49687	D	0.99981	D;D	0.76494	0.998;0.999	D;D	0.77557	0.99;0.987	D	0.98329	1.0532	10	0.87932	D	0	.	16.3346	0.83053	0.0:0.0:1.0:0.0	.	75;75	Q99578-2;Q99578	.;RIT2_HUMAN	N	75	ENSP00000321805:T75N;ENSP00000282028:T75N	ENSP00000282028:T75N	T	-	2	0	RIT2	38808047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.574000	0.67424	2.700000	0.92200	0.655000	0.94253	ACT		0.368	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		T	40554049	G	T	40554049	3	4	276	1	0	0	0	0	1	0	0	0	13387	1029	36	5	441	5	RIT2	18	40554049	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	33597389	40554049	37523199	85	19810											
BCL2	596	broad.mit.edu	37	chr18	60795928	60795929	+	Frame_Shift_Del	DEL	AG	AG	-																															ccaaactgagcagagtcttcAgagacagccaggagaaatca																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:60795928_60795929delAG	ENST00000398117.1	-	2	2110_2111	c.649_650delCT	c.(649-651)ctgfs	p.L217fs	BCL2_ENST00000590515.1_5'UTR|BCL2_ENST00000333681.4_Frame_Shift_Del_p.L217fs	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	217					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CAGAGTCTTCAGAGACAGCCAG	0.545			T	IGH@	"NHL, CLL"																																	uc002lit.1				Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		"NHL, CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113						c.(649-651)ctgfs		Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)																																			SO:0001589	frameshift_variant	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60795928_60795929delAG	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.649_650delCT	18.37:g.60795930_60795931delAG	ENSP00000381185:p.Leu217fs					BCL2_uc002liu.1_Frame_Shift_Del_p.L217fs	p.L217fs	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	1142_1143	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	217					C9JHD5|P10416|Q13842|Q16197	Frame_Shift_Del	DEL	ENST00000398117.1	37	c.649_650delCT	CCDS11981.1																																																																																				0.545	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		-	60795929	AG	-	60795928	7	5	276	1	0	1	0	1	0	0	0	0	1365	188	7	0	73	0	BCL2	18	60795928	Frame_Shift_Del	DEL	AG	TCGA-76-6660-01A-11D-1845-08	20241879	60795928	17281320	86	19811											
DNM2	1785	broad.mit.edu	37	chr19	10886491	10886491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcctgcagttcatcagccgGgagagcagcctcattctggc	8	9	11	13	1	4	1	3	0	1	1	5	2	5	1	3	2	4	3	3	2	0	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:10886491G>A	ENST00000355667.6	+	4	578	c.498G>A	c.(496-498)cgG>cgA	p.R166R	DNM2_ENST00000408974.4_Silent_p.R166R|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_Silent_p.R166R|DNM2_ENST00000359692.6_Silent_p.R166R|DNM2_ENST00000314646.5_Silent_p.R166R|DNM2_ENST00000389253.4_Silent_p.R166R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	166	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCATCAGCCGGGAGAGCAGCC	0.607			"F, N, Splice, Mis, O"		ETP ALL																																	uc002mpt.2				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(496-498)cgG>cgA		Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.							101	92	95					19																	10886491		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10886491G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.498G>A	19.37:g.10886491G>A						DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.R166R|DNM2_uc010dxl.2_Silent_p.R166R|DNM2_uc002mpu.2_Silent_p.R166R|DNM2_uc002mpv.2_Silent_p.R166R	p.R166R	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		3	688	+			166					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.498G>A	CCDS45968.1																																																																																				0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		A	10886491	G	A	10886491	2	1	276	1	0	0	0	0	0	0	0	1	4672	1219	43	3		3	DNM2	19	10886491	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		10886491	48242492	87	19812											
RGL3	57139	broad.mit.edu	37	chr19	11526753	11526753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggacactgcccaggtccGaatgggcaggggggtctcgg	6	7	17	11	3	1	0	0	0	1	0	4	2	2	1	2	7	1	1	2	7	1	1	rs202085360		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:11526753G>A	ENST00000380456.3	-	5	560	c.497C>T	c.(496-498)tCg>tTg	p.S166L	RGL3_ENST00000393423.3_Missense_Mutation_p.S166L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	166	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCCAGGTCCGAATGGGCAGG	0.617													G|||	1	0.000199681	0	0	5008	,	,		14333	0		0	False		,,,				2504	0.001				GBM(174;751 2067 17998 27979 33959)	uc002mro.2																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(496-498)tCg>tTg		Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.							32	39	36					19																	11526753		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526753G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.497C>T	19.37:g.11526753G>A	ENSP00000369823:p.Ser166Leu					RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Missense_Mutation_p.S166L	p.S166L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN			4	561	-			166			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.497C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601954	0.28534	.	.	ENSG00000205517	ENST00000393423;ENST00000380456	T;T	0.42513	1.12;0.97	4.88	2.6	0.31112	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.726083	0.13555	N	0.379194	T	0.29423	0.0733	L	0.33485	1.01	0.09310	N	1	P;P	0.50710	0.82;0.938	B;B	0.40782	0.34;0.289	T	0.09100	-1.0690	10	0.51188	T	0.08	.	6.8647	0.24086	0.0862:0.0:0.5905:0.3233	.	166;166	Q3MIN7;B5ME84	RGL3_HUMAN;.	L	166	ENSP00000377075:S166L;ENSP00000369823:S166L	ENSP00000369823:S166L	S	-	2	0	RGL3	11387753	0.001000	0.12720	0.007000	0.13788	0.347000	0.29111	0.377000	0.20552	0.381000	0.24851	0.511000	0.50034	TCG		0.617	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		A	11526753	G	A	11526753	3	1	276	1	0	0	0	0	1	0	0	0	13278	1059	37	2	1713	2	RGL3	19	11526753	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	640262	11526753	47602230	88	19813											
ZNF433	163059	broad.mit.edu	37	chr19	12126556	12126556	+	Frame_Shift_Del	DEL	A	A	-																															ttgaagtgaactgggagaatAaaaggctttcccacatatct																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:12126556delA	ENST00000344980.6	-	4	1296	c.1126delT	c.(1126-1128)tatfs	p.Y376fs	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Frame_Shift_Del_p.Y341fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CTGGGAGAATAAAAGGCTTTC	0.373																																						uc002msy.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1126-1128)tatfs		Homo sapiens zinc finger protein 433 (ZNF433), mRNA.							38	43	41					19																	12126556		2180	4284	6464	SO:0001589	frameshift_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126556delA	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1126delT	19.37:g.12126556delA	ENSP00000339767:p.Tyr376fs					AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.Y341fs	p.Y376fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			3	1297	-			376					Q86VX3	Frame_Shift_Del	DEL	ENST00000344980.6	37	c.1126delT	CCDS45983.1																																																																																				0.373	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		-	12126556	A	-	12126556	7	5	276	1	0	1	0	1	0	0	0	0	17904	362	13	0	899	0	ZNF433	19	12126556	Frame_Shift_Del	DEL	A	TCGA-76-6660-01A-11D-1845-08	599803	12126556	47002427	89	19814											
PEG3	5178	broad.mit.edu	37	chr19	57325278	57325278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaagtgaaggtttctGtgcattcatggcagtcatag	9	13	13	6	0	3	1	2	1	1	0	3	2	3	2	0	3	2	4	0	3	3	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:57325278G>C	ENST00000326441.9	-	10	4895	c.4532C>G	c.(4531-4533)aCa>aGa	p.T1511R	PEG3_ENST00000598410.1_Missense_Mutation_p.T1387R|PEG3_ENST00000423103.2_Missense_Mutation_p.T1511R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T1385R|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1511	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTTTCTGTGCATTCATG	0.483																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(4531-4533)aCa>aGa		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							178	162	167					19																	57325278		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325278G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4532C>G	19.37:g.57325278G>C	ENSP00000326581:p.Thr1511Arg					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1482R|PEG3_uc002qnv.2_Missense_Mutation_p.T1511R|PEG3_uc002qnw.2_Missense_Mutation_p.T1387R|PEG3_uc002qnx.2_Missense_Mutation_p.T1385R|PEG3_uc010etr.2_Missense_Mutation_p.T1511R	p.T1511R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	4883	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1511			Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4532C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038270	0.35989	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.27720	1.65;1.65	3.94	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.996520	0.08124	N	0.994289	T	0.21227	0.0511	N	0.05124	-0.11	.	.	.	P;P;P	0.44309	0.832;0.586;0.586	P;B;B	0.45998	0.5;0.377;0.377	T	0.18304	-1.0341	9	0.54805	T	0.06	-3.1986	8.8605	0.35253	0.0:0.359:0.641:0.0	.	1387;1511;1446	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	1511	ENSP00000326581:T1511R;ENSP00000403051:T1511R	ENSP00000326581:T1511R	T	-	2	0	ZIM2	62017090	0.003000	0.15002	0.017000	0.16124	0.895000	0.52256	1.527000	0.35975	1.227000	0.43598	0.585000	0.79938	ACA		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57325278	G	C	57325278	3	2	276	1	0	0	0	0	1	0	0	0	11720	1377	48	5	238	5	PEG3	19	57325278	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	45198722	57325278	1803705	90	19815											
PTPRA	5786	broad.mit.edu	37	chr20	3002794	3002794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgccttttaccccgatcgGcatgctcaagttcctcaaga	8	11	9	13	2	2	1	2	0	0	1	4	2	3	1	4	2	3	3	4	2	3	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:3002794G>A	ENST00000216877.6	+	14	1629	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	PTPRA_ENST00000399903.2_Missense_Mutation_p.G419D|PTPRA_ENST00000358719.4_Missense_Mutation_p.G275D|PTPRA_ENST00000318266.5_Missense_Mutation_p.G410D|PTPRA_ENST00000356147.3_Missense_Mutation_p.G410D|PTPRA_ENST00000380393.3_Missense_Mutation_p.G419D|PTPRA_ENST00000425918.2_Missense_Mutation_p.G430D	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	419	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCCCGATCGGCATGCTCAAG	0.572																																						uc010zqd.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1288-1290)gGc>gAc		Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.							175	141	152					20																	3002794		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3002794G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1229G>A	20.37:g.3002794G>A	ENSP00000216877:p.Gly410Asp					PTPRA_uc002whj.3_Missense_Mutation_p.G419D|PTPRA_uc002whk.3_Missense_Mutation_p.G410D|PTPRA_uc002whl.3_Missense_Mutation_p.G410D|PTPRA_uc002whm.3_Missense_Mutation_p.G186D|PTPRA_uc002whn.3_Missense_Mutation_p.G410D|PTPRA_uc002who.3_Missense_Mutation_p.G82D	p.G430D	NM_002836	NP_002827	P18433	PTPRA_HUMAN			13	1606	+			419			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1289G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099541	0.94197	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	D	0.90229	0.6945	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.976;1.0;0.997	D	0.89780	0.3960	10	0.59425	D	0.04	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	430;419;410	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	D	419;410;419;275;29;430;410;410	ENSP00000369756:G419D;ENSP00000216877:G410D;ENSP00000382787:G419D;ENSP00000351559:G275D;ENSP00000393553:G430D;ENSP00000314568:G410D;ENSP00000348468:G410D	ENSP00000216877:G410D	G	+	2	0	PTPRA	2950794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.763000	0.94921	0.561000	0.74099	GGC		0.572	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			A	3002794	G	A	3002794	3	1	276	1	0	0	0	0	1	0	0	0	12795	1203	42	3	1302	3	PTPRA	20	3002794	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		3002794	60022726	91	19816											
RIN2	54453	broad.mit.edu	37	chr20	19981289	19981289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcatttcaggaggtcaaCagtggttgcacaggaaagac	12	9	13	7	0	2	1	2	0	0	1	2	3	2	3	0	4	3	4	0	4	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:19981289C>T	ENST00000255006.6	+	12	2693	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.N366N	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	799	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGGAGGTCAACAGTGGTTGCA	0.507																																						uc002wro.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(2542-2544)aaC>aaT		Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.							145	141	142					20																	19981289		2011	4194	6205	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19981289C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2544C>T	20.37:g.19981289C>T						RIN2_uc010gcu.2_Silent_p.N366N|RIN2_uc010gcv.2_Silent_p.N593N	p.N848N	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN			11	2693	+			799			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.2544C>T	CCDS56182.1																																																																																				0.507	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19981289	C	T	19981289	2	4	276	1	0	0	0	0	0	0	0	1	13372	477	17	3		3	RIN2	20	19981289	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	16978495	19981289	43044231	92	19817											
AURKA	6790	broad.mit.edu	37	chr20	54963223	54963223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttaccttaacaggtcCtgaaatgcagttttctttag	11	16	6	8	0	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	5	7	rs6069717	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:54963223C>T	ENST00000347343.2	-	2	298	c.31G>A	c.(31-33)Gga>Aga	p.G11R	AURKA_ENST00000312783.6_Missense_Mutation_p.G11R|AURKA_ENST00000371356.2_Missense_Mutation_p.G11R|AURKA_ENST00000395911.1_Missense_Mutation_p.G11R|AURKA_ENST00000395914.1_Missense_Mutation_p.G11R|AURKA_ENST00000395907.1_Missense_Mutation_p.G11R|AURKA_ENST00000395913.3_Missense_Mutation_p.G11R|AURKA_ENST00000395915.3_Missense_Mutation_p.G11R|AURKA_ENST00000395909.4_Missense_Mutation_p.G11R	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	11			G -> R (in dbSNP:rs6069717).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G11*(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTAACAGGTCCTGAAATGCAG	0.383																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	uc002xxe.1																			1	Substitution - Nonsense(1)	p.G11*(2)	lung(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(31-33)Gga>Aga		Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.							109	116	114					20																	54963223		2203	4300	6503	SO:0001583	missense	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54963223C>T	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.31G>A	20.37:g.54963223C>T	ENSP00000216911:p.Gly11Arg					AURKA_uc002xxf.1_Missense_Mutation_p.G11R|AURKA_uc002xxg.1_Missense_Mutation_p.G11R|AURKA_uc002xxh.1_Missense_Mutation_p.G11R|AURKA_uc002xxi.1_Missense_Mutation_p.G11R|AURKA_uc002xxj.1_Missense_Mutation_p.G11R|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.G11R	p.G11R	NM_198434	NP_940839	O14965	AURKA_HUMAN	Colorectal(105;0.202)		2	288	-			11		G -> R (in dbSNP:rs6069717).			E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	c.31G>A	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	1.637	-0.517522	0.04171	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.46;0.01;2.72;2.48;2.45;2.18	4.59	3.64	0.41730	.	0.401886	0.21909	N	0.067334	T	0.44953	0.1318	N	0.16098	0.37	0.22819	N	0.998695	B;B;B;B;B;B;B	0.27140	0.018;0.169;0.006;0.002;0.001;0.002;0.002	B;B;B;B;B;B;B	0.28553	0.018;0.091;0.005;0.003;0.003;0.003;0.004	T	0.25745	-1.0123	10	0.22109	T	0.4	-34.2481	7.6454	0.28316	0.0:0.8821:0.0:0.1179	rs6069717;rs6069717	11;11;11;11;11;11;11	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	R	11	ENSP00000379245:G11R;ENSP00000379250:G11R;ENSP00000216911:G11R;ENSP00000379251:G11R;ENSP00000321591:G11R;ENSP00000360407:G11R;ENSP00000379249:G11R;ENSP00000379247:G11R;ENSP00000379243:G11R;ENSP00000393452:G11R;ENSP00000388073:G11R;ENSP00000405042:G11R;ENSP00000405170:G11R;ENSP00000401358:G11R	ENSP00000321591:G11R	G	-	1	0	AURKA	54396630	0.751000	0.28327	0.519000	0.27824	0.762000	0.43233	1.167000	0.31847	1.110000	0.41699	0.585000	0.79938	GGA		0.383	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		T	54963223	C	T	54963223	3	4	276	1	0	0	0	0	1	0	0	0	1221	690	24	3	1212	3	AURKA	20	54963223	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	34981934	54963223	8062297	93	19818											
MORC3	23515	broad.mit.edu	37	chr21	37732374	37732374	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccctgacccacagttcAggtaccatagagttggtagt	12	10	9	10	0	1	2	1	1	0	1	1	2	1	2	3	2	2	4	3	2	4	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:37732374A>G	ENST00000400485.1	+	11	1406	c.1330A>G	c.(1330-1332)Aga>Gga	p.R444G	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	444					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCCACAGTTCAGGTACCATAG	0.433																																						uc002yvi.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.e11+1		Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.							187	169	175					21																	37732374		1936	4162	6098	SO:0001630	splice_region_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37732374A>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1331+1A>G	21.37:g.37732374A>G							p.R444_splice	NM_015358	NP_056173	Q14149	MORC3_HUMAN			11	1407	+			444					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1331_splice	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547557	0.65311	.	.	ENSG00000159256	ENST00000400485	T	0.15017	2.46	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.49350	1.555	0.80722	D	1	B	0.23650	0.089	B	0.28709	0.093	T	0.02179	-1.1200	10	0.59425	D	0.04	-26.9346	12.6734	0.56880	0.8532:0.1468:0.0:0.0	.	444	Q14149	MORC3_HUMAN	G	444	ENSP00000383333:R444G	ENSP00000383333:R444G	R	+	1	2	MORC3	36654244	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.939000	0.63526	2.158000	0.67659	0.455000	0.32223	AGA		0.433	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	Missense_Mutation	G	37732374	A	G	37732374	5	3	276	1	0	0	0	0	0	0	1	0	9703	202	7	4	1372	4	MORC3	21	37732374	Splice_Site	SNP	A	TCGA-76-6660-01A-11D-1845-08		37732374	10397521	94	19819											
SH3BGR	6450	broad.mit.edu	37	chr21	40883645	40883645	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgcggaaggggaagcCgaggaggaggaagaaactgc	13	2	21	5	2	0	1	0	0	0	1	0	8	0	6	1	7	4	0	1	7	4	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:40883645C>T	ENST00000333634.4	+	6	741	c.663C>T	c.(661-663)gcC>gcT	p.A221A	SH3BGR_ENST00000380637.3_Silent_p.A110A|SH3BGR_ENST00000458295.1_Silent_p.A79A|SH3BGR_ENST00000380634.1_Silent_p.A110A|SH3BGR_ENST00000380631.1_Silent_p.A110A	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	221	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGGGAAGCCGAGGAGGAGG	0.448																																						uc002yya.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(661-663)gcC>gcT		Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.							119	116	117					21																	40883645		2203	4300	6503	SO:0001819	synonymous_variant	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40883645C>T		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.663C>T	21.37:g.40883645C>T						SH3BGR_uc002yxz.3_Silent_p.A110A	p.A221A	NM_007341	NP_001001713	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	5	717	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	221			Glu-rich (acidic).		A6ND59|D3DSI2|Q9BRB8	Silent	SNP	ENST00000333634.4	37	c.663C>T	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	.	3.056	-0.194313	0.06259	.	.	ENSG00000185437	ENST00000452550	.	.	.	3.7	-7.39	0.01402	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4511	0.04518	0.2203:0.275:0.3774:0.1273	.	.	.	.	X	119	.	.	R	+	1	2	SH3BGR	39805515	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	-1.422000	0.02453	-2.034000	0.00924	-1.157000	0.01802	CGA		0.448	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		T	40883645	C	T	40883645	2	4	276	1	0	0	0	0	0	0	0	1	14240	639	23	2		2	SH3BGR	21	40883645	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	3151271	40883645	7246250	95	19820											
TPST2	8459	broad.mit.edu	37	chr22	26937392	26937392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacccacgaagatgagcgGcatggccttgccatagcggt	9	6	13	13	3	0	2	0	1	0	1	0	3	0	2	4	3	3	1	4	3	2	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr22:26937392G>A	ENST00000338754.4	-	3	475	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	TPST2_ENST00000398110.2_Missense_Mutation_p.P69S|TPST2_ENST00000403880.1_Missense_Mutation_p.P69S	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	69					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AAGATGAGCGGCATGGCCTTG	0.701																																						uc003acw.3																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(205-207)Ccg>Tcg		Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.							60	46	51					22																	26937392		2200	4284	6484	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937392G>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.205C>T	22.37:g.26937392G>A	ENSP00000339813:p.Pro69Ser					TPST2_uc003acx.3_Missense_Mutation_p.P69S|TPST2_uc011akf.1_Missense_Mutation_p.P69S	p.P69S	NM_001008566	NP_003586	O60704	TPST2_HUMAN			2	546	-			69					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.205C>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198444	0.79015	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495;ENST00000454778	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000002	T	0.75845	0.3905	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82604	-0.0375	10	0.59425	D	0.04	-48.4915	16.5792	0.84710	0.0:0.0:1.0:0.0	.	69	O60704	TPST2_HUMAN	S	69;69;69;2;69;69	ENSP00000339813:P69S;ENSP00000381180:P69S;ENSP00000385192:P69S;ENSP00000403875:P69S;ENSP00000400357:P69S	ENSP00000339813:P69S	P	-	1	0	TPST2	25267392	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.084000	0.94076	2.163000	0.67991	0.407000	0.27541	CCG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		A	26937392	G	A	26937392	3	1	276	1	0	0	0	0	1	0	0	0	16425	1203	42	3	944	3	TPST2	22	26937392	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		26937392	24367174	96	19821											
WWC3	55841	broad.mit.edu	37	chrX	10058926	10058926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggcgagaaggagaggCgggacctgatgcatgtaagc	12	4	17	8	2	0	3	0	1	0	2	0	6	0	4	1	4	2	3	1	4	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:10058926C>T	ENST00000380861.4	+	6	884	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	WWC3_ENST00000454666.1_Missense_Mutation_p.R165W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	165					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GAAGGAGAGGCGGGACCTGAT	0.423													C|||	1	0.000264901	0	0	3775	,	,		13055	0.001		0	False		,,,				2504	0					uc004csx.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(493-495)Cgg>Tgg		Homo sapiens WWC family member 3 (WWC3), mRNA.							108	93	98					X																	10058926		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10058926C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.493C>T	X.37:g.10058926C>T	ENSP00000370242:p.Arg165Trp					WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	p.R165W	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			5	691	+			165					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.493C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888241	0.91814	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05258	3.47;3.47	5.22	5.22	0.72569	.	0.279655	0.37136	N	0.002229	T	0.18383	0.0441	L	0.51422	1.61	0.52099	D	0.999945	D	0.89917	1.0	P	0.59424	0.857	T	0.00234	-1.1893	10	0.72032	D	0.01	-36.5059	18.0834	0.89449	0.0:1.0:0.0:0.0	.	165	Q9ULE0	WWC3_HUMAN	W	165	ENSP00000370242:R165W;ENSP00000399584:R165W	ENSP00000370242:R165W	R	+	1	2	WWC3	10018926	1.000000	0.71417	0.988000	0.46212	0.781000	0.44180	5.699000	0.68310	2.292000	0.77174	0.506000	0.49869	CGG		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10058926	C	T	10058926	3	4	276	1	0	0	0	0	1	0	0	0	17410	759	27	1	511	1	WWC3	23	10058926	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		10058926	145211634	97	19822											
IGSF1	3547	broad.mit.edu	37	chrX	130409145	130409145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctcctgagccccctcCttcaacaggacaaatgttga	12	8	8	13	0	1	2	1	2	0	0	3	3	3	3	4	2	2	2	4	2	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:130409145C>T	ENST00000361420.3	-	17	3379	c.3300G>A	c.(3298-3300)aaG>aaA	p.K1100K	IGSF1_ENST00000370903.3_Silent_p.K1105K|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.K1091K|IGSF1_ENST00000370904.1_Silent_p.K1091K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1100	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGCCCCCTCCTTCAACAGGA	0.547																																						uc004ewe.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3313-3315)aaG>aaA		Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.							153	153	153					X																	130409145		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409145C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3300G>A	X.37:g.130409145C>T						IGSF1_uc004ewd.3_Silent_p.K1100K|IGSF1_uc022cdv.1_Silent_p.K1091K|IGSF1_uc004ewf.2_Silent_p.K1080K	p.K1105K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN			16	3598	-			1100			Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.3315G>A	CCDS14629.1																																																																																				0.547	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			T	130409145	C	T	130409145	2	4	276	1	0	0	0	0	0	0	0	1	7596	680	24	3		3	IGSF1	23	130409145	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	120350219	130409145	24861415	98	19823											
MAGEC1	9947	broad.mit.edu	37	chrX	140995944	140995944	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgagttggcgcggttTcttctcctcaaatatcaagt	8	13	11	9	3	4	0	2	0	2	0	5	2	4	1	1	3	0	2	1	3	3	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:140995944T>C	ENST00000285879.4	+	4	3040	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	918	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGCGGTTTCTTCTCCTCA	0.483										HNSCC(15;0.026)																												uc004fbt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2752-2754)ttT>ttC		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							164	160	161					X																	140995944		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995944T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2754T>C	X.37:g.140995944T>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F577F	p.F918F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			3	3078	+	Acute lymphoblastic leukemia(192;6.56e-05)		918			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2754T>C	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140995944	T	C	140995944	2	2	276	1	0	0	0	0	0	0	0	1	9180	1780	62	4		4	MAGEC1	23	140995944	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	10586799	140995944	14274616	99	19824											
OXCT2	64064	broad.mit.edu	37	chr1	40235523	40235523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtcaaacacggccttctCggtgatgatgcggtccacgc	8	8	11	14	5	2	2	1	2	1	0	4	2	3	2	2	3	2	0	2	3	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:40235523C>T	ENST00000327582.5	-	1	1497	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	469					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGGCCTTCTCGGTGATGATG	0.592																																						uc001ceb.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(1405-1407)Gag>Aag		Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	Succinic acid(DB00139)						62	60	61					1																	40235523		2203	4300	6503	SO:0001583	missense	64064				ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	g.chr1:40235523C>T	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1405G>A	1.37:g.40235523C>T	ENSP00000361914:p.Glu469Lys					BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	p.E469K	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		0	1498	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	469					B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	c.1405G>A	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	35	5.449614	0.96205	.	.	ENSG00000198754	ENST00000327582	D	0.95412	-3.7	2.51	2.51	0.30379	3-oxoacid CoA-transferase, subunit B (1);	0.053690	0.64402	U	0.000001	D	0.97117	0.9058	.	.	.	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.96966	0.9705	9	0.87932	D	0	-0.5543	11.1506	0.48455	0.0:1.0:0.0:0.0	.	469;469	B3KS89;Q9BYC2	.;SCOT2_HUMAN	K	469	ENSP00000361914:E469K	ENSP00000361914:E469K	E	-	1	0	OXCT2	40008110	0.843000	0.29541	0.699000	0.30290	0.870000	0.49936	1.546000	0.36179	1.698000	0.51180	0.556000	0.70494	GAG		0.592	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120		T	40235523	C	T	40235523	3	4	277	1	0	0	0	0	1	0	0	0	11330	893	31	2	152	2	OXCT2	1	40235523	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		40235523	209015098	1	19825											
DMRTB1	63948	broad.mit.edu	37	chr1	53930361	53930361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctactacctgccgccgccgCcgccgccactgccgcccctt	3	6	9	23	6	0	0	0	0	0	0	0	0	0	0	10	0	4	1	10	0	2	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:53930361C>T	ENST00000371445.3	+	3	857	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	268	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						gccgccgccgccgccgccact	0.682																																						uc001cvq.1																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(802-804)Ccg>Tcg		Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.							28	34	32					1																	53930361		2203	4299	6502	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930361C>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.802C>T	1.37:g.53930361C>T	ENSP00000360500:p.Pro268Ser						p.P268S	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			2	857	+			268			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.802C>T	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929778	0.18131	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.53640	0.61	1.46	0.514	0.17007	.	0.606896	0.10342	N	0.686121	T	0.40040	0.1101	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.30646	0.118	T	0.37033	-0.9723	10	0.17832	T	0.49	.	3.8502	0.08951	0.0:0.7588:0.0:0.2412	.	268	Q96MA1	DMRTB_HUMAN	S	268;115	ENSP00000360500:P268S	ENSP00000360500:P268S	P	+	1	0	DMRTB1	53702949	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	1.033000	0.30191	0.221000	0.20879	0.393000	0.25936	CCG		0.682	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			T	53930361	C	T	53930361	3	4	277	1	0	0	0	0	1	0	0	0	4590	739	26	3	812	3	DMRTB1	1	53930361	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	13694838	53930361	195320260	2	19826											
SELE	6401	broad.mit.edu	37	chr1	169698648	169698648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttacacgttggcttctcGttgtcccaattcccagatga	7	14	7	13	2	1	2	0	1	1	1	4	2	3	2	3	1	1	3	3	1	2	6	rs374959095		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:169698648G>A	ENST00000333360.7	-	6	1021	c.882C>T	c.(880-882)aaC>aaT	p.N294N	SELE_ENST00000367776.1_Silent_p.N294N|SELE_ENST00000367775.1_Silent_p.N232N|SELE_ENST00000367780.4_Silent_p.N232N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.N294N|SELE_ENST00000367779.4_Silent_p.N294N|SELE_ENST00000367782.4_Silent_p.N294N|SELE_ENST00000367781.4_Silent_p.N294N|SELE_ENST00000367777.1_Silent_p.N294N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	294	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTGGCTTCTCGTTGTCCCAAT	0.458																																						uc001ggm.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(880-882)aaC>aaT		Homo sapiens selectin E (SELE), mRNA.		G		0,4406		0,0,2203	152	141	145		882	-4.3	0	1		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SELE	NM_000450.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		294/611	169698648	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698648G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.882C>T	1.37:g.169698648G>A						C1orf112_uc001ggj.3_Intron	p.N294N	NM_000450	NP_000441	P16581	LYAM2_HUMAN			5	1039	-	all_hematologic(923;0.208)		294			Sushi 2.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.882C>T	CCDS1283.1																																																																																				0.458	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169698648	G	A	169698648	2	1	277	1	0	0	0	0	0	0	0	1	14013	1136	40	1		1	SELE	1	169698648	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	115768287	169698648	79551973	3	19827											
USH2A	7399	broad.mit.edu	37	chr1	215931985	215931985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaggcccaattactgtgaTattatatggaggatagattt	14	14	9	4	0	0	2	0	1	0	1	0	4	0	4	1	3	1	0	1	3	7	7			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:215931985T>C	ENST00000307340.3	-	58	11727	c.11341A>G	c.(11341-11343)Atc>Gtc	p.I3781V	USH2A_ENST00000366943.2_Missense_Mutation_p.I3781V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3781	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTACTGTGATATTATATGGA	0.353										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11341-11343)Atc>Gtc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							170	170	170					1																	215931985		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215931985T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11341A>G	1.37:g.215931985T>C	ENSP00000305941:p.Ile3781Val	HNSCC(13;0.011)					p.I3781V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11728	-			3781			Fibronectin type-III 23.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11341A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	3.040	-0.197810	0.06219	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	5.36	-3.78	0.04333	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.586609	0.14195	N	0.335087	T	0.21881	0.0527	N	0.05031	-0.125	0.18873	N	0.999983	B	0.06786	0.001	B	0.08055	0.003	T	0.32534	-0.9903	10	0.02654	T	1	.	18.1002	0.89504	0.0:0.8217:0.0:0.1783	.	3781	O75445	USH2A_HUMAN	V	3781	ENSP00000305941:I3781V;ENSP00000355910:I3781V	ENSP00000305941:I3781V	I	-	1	0	USH2A	213998608	0.946000	0.32159	0.022000	0.16811	0.991000	0.79684	0.016000	0.13377	-0.457000	0.07033	0.477000	0.44152	ATC		0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215931985	T	C	215931985	3	2	277	1	0	0	0	0	1	0	0	0	17033	1406	49	4	4327	4	USH2A	1	215931985	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	46233337	215931985	33318636	4	19828											
OR2T4	127074	broad.mit.edu	37	chr1	248525822	248525822	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttctataccatcctcActccagtggtgaacccttta	8	14	5	14	0	3	1	1	1	2	0	5	1	5	1	4	1	2	0	4	1	4	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248525822A>T	ENST00000366475.1	+	1	940	c.940A>T	c.(940-942)Act>Tct	p.T314S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCATCCTCACTCCAGTGGT	0.463																																						uc001ieh.1																			0		p.T314T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(940-942)Act>Tct		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.							145	143	144					1																	248525822		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525822A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.940A>T	1.37:g.248525822A>T	ENSP00000355431:p.Thr314Ser						p.T314S	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	940	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		314					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.940A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569678	0.28003	.	.	ENSG00000196944	ENST00000366475	T	0.35605	1.3	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.55593	0.1930	M	0.79123	2.44	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.44050	-0.9353	10	0.87932	D	0	.	8.4833	0.33057	0.8043:0.1957:0.0:0.0	.	314	Q8NH00	OR2T4_HUMAN	S	314	ENSP00000355431:T314S	ENSP00000355431:T314S	T	+	1	0	OR2T4	246592445	0.003000	0.15002	0.997000	0.53966	0.203000	0.24098	1.181000	0.32017	1.228000	0.43614	0.477000	0.44152	ACT		0.463	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		T	248525822	A	T	248525822	3	4	277	1	0	0	0	0	1	0	0	0	11027	159	6	5	942	5	OR2T4	1	248525822	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	32593837	248525822	724799	5	19829											
MERTK	10461	broad.mit.edu	37	chr2	112785992	112785992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccttttcagtattgAggctgcagctagaaaaactc	11	10	8	12	0	1	2	1	1	0	1	2	2	1	2	3	1	3	4	3	1	4	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:112785992A>G	ENST00000295408.4	+	19	2808	c.2551A>G	c.(2551-2553)Agg>Ggg	p.R851G	MERTK_ENST00000421804.2_Missense_Mutation_p.R851G|MERTK_ENST00000409780.1_Missense_Mutation_p.R675G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	851	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTCAGTATTGAGGCTGCAGCT	0.453																																						uc002thk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2551-2553)Agg>Ggg		Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.							70	77	75					2																	112785992		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112785992A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2551A>G	2.37:g.112785992A>G	ENSP00000295408:p.Arg851Gly					MERTK_uc002thl.1_Missense_Mutation_p.R675G	p.R851G	NM_006343	NP_006334	Q12866	MERTK_HUMAN			18	2673	+			851			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2551A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322662	0.81580	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.439282	0.16616	U	0.206706	T	0.69663	0.3136	L	0.45352	1.415	0.50632	D	0.999881	D	0.54047	0.964	P	0.55871	0.786	T	0.71712	-0.4510	10	0.87932	D	0	-22.731	16.0351	0.80621	1.0:0.0:0.0:0.0	.	851	Q12866	MERTK_HUMAN	G	851;851;510;675;175	ENSP00000295408:R851G;ENSP00000389152:R851G;ENSP00000387277:R675G;ENSP00000412660:R175G	ENSP00000295408:R851G	R	+	1	2	MERTK	112502463	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.253000	0.65452	2.181000	0.69327	0.533000	0.62120	AGG		0.453	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			G	112785992	A	G	112785992	3	3	277	1	0	0	0	0	1	0	0	0	9479	295	11	4	2625	4	MERTK	2	112785992	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		112785992	130413381	6	19830											
TTN	7273	broad.mit.edu	37	chr2	179594237	179594237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcacactccagctccaCgtcactatattttactacct	11	13	2	15	1	2	0	2	0	0	0	4	0	4	0	3	0	4	1	3	0	5	6	rs369242073		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:179594237C>T	ENST00000591111.1	-	62	17919	c.17695G>A	c.(17695-17697)Gtg>Atg	p.V5899M	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6216M|TTN_ENST00000342992.6_Missense_Mutation_p.V4972M|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12695	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCTCCACGTCACTATAT	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14914-14916)Gtg>Atg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	MET/VAL,,,	1,3751		0,1,1875	116	106	110		14914,,,	5.9	1	2		110	0,8222		0,0,4111	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	21,,,	0,1,5986	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,,,	4972/33424,,,	179594237	1,11973	1876	4111	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594237C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17695G>A	2.37:g.179594237C>T	ENSP00000465570:p.Val5899Met					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1633M	p.V4972M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	15139	-			5899			Ig-like 30.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14914G>A		.	.	.	.	.	.	.	.	.	.	C	15.50	2.852148	0.51270	2.67E-4	0.0	ENSG00000155657	ENST00000342992	T	0.51817	0.69	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71169	0.3308	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.73607	-0.3929	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	5899	Q8WZ42	TITIN_HUMAN	M	4972	ENSP00000343764:V4972M	ENSP00000343764:V4972M	V	-	1	0	TTN	179302482	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	3.895000	0.56258	2.795000	0.96236	0.655000	0.94253	GTG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179594237	C	T	179594237	3	4	277	1	0	0	0	0	1	0	0	0	16732	536	19	1	86079	1	TTN	2	179594237	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	66808245	179594237	63605136	7	19831											
PIKFYVE	200576	broad.mit.edu	37	chr2	209153464	209153464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttatagtttgattcatcCagattcctcaaatactcctc	10	17	3	11	0	3	2	2	1	1	1	7	2	6	2	3	0	1	1	3	0	4	7			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:209153464C>T	ENST00000264380.4	+	7	991	c.833C>T	c.(832-834)cCa>cTa	p.P278L	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.P278L|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.P181L|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.P192L	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	278					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGATTCATCCAGATTCCTCA	0.343																																						uc002vcz.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(832-834)cCa>cTa		Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.							77	76	76					2																	209153464		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209153464C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.833C>T	2.37:g.209153464C>T	ENSP00000264380:p.Pro278Leu					PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P278L|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P278L|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P181L|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P192L	p.P278L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			6	991	+			278					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.833C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820830	0.71028	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.63417	1.65;-0.04;1.82	6.06	5.16	0.70880	.	0.147662	0.47093	D	0.000244	T	0.44685	0.1305	N	0.14661	0.345	0.54753	D	0.999987	B;P;B;B;B	0.43094	0.181;0.799;0.278;0.281;0.397	B;B;B;B;B	0.38562	0.031;0.276;0.114;0.038;0.114	T	0.41360	-0.9513	10	0.30078	T	0.28	-2.42	14.2315	0.65895	0.2714:0.7286:0.0:0.0	.	278;278;192;278;181	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	L	181;278;278;192;278	ENSP00000264380:P278L;ENSP00000384356:P278L;ENSP00000405736:P278L	ENSP00000264380:P278L	P	+	2	0	PIKFYVE	208861709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.885000	0.48570	1.524000	0.49035	0.655000	0.94253	CCA		0.343	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209153464	C	T	209153464	3	4	277	1	0	0	0	0	1	0	0	0	11924	594	21	3	855	3	PIKFYVE	2	209153464	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	29559227	209153464	34045909	8	19832											
COL4A4	1286	broad.mit.edu	37	chr2	227942664	227942664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtggcctggaactcCtgggtggcctcgctctcctg	3	10	14	14	1	1	0	0	0	1	0	4	1	2	1	5	5	1	1	5	5	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942664C>T	ENST00000396625.3	-	25	2140	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G645R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	645	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAACTCCTGGGTGGCCT	0.532																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1933-1935)Gga>Aga		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							25	28	27					2																	227942664		1815	4070	5885	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942664C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1933G>A	2.37:g.227942664C>T	ENSP00000379866:p.Gly645Arg					COL4A4_uc021vxs.1_Missense_Mutation_p.G645R	p.G645R	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	23	2034	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	645			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1933G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449716	0.63290	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.82	5.82	0.92795	.	.	.	.	.	D	0.99739	0.9897	H	0.99225	4.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	9	0.87932	D	0	.	17.8873	0.88861	0.0:1.0:0.0:0.0	.	645	P53420	CO4A4_HUMAN	R	645	ENSP00000379866:G645R;ENSP00000328553:G645R	ENSP00000328553:G645R	G	-	1	0	COL4A4	227650908	1.000000	0.71417	0.995000	0.50966	0.255000	0.26057	5.159000	0.64923	2.765000	0.95021	0.650000	0.86243	GGA		0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227942664	C	T	227942664	3	4	277	1	0	0	0	0	1	0	0	0	3693	690	24	3	3235	3	COL4A4	2	227942664	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	18789200	227942664	15256709	9	19833			1	47		3	3	36	C		2.786984e-09
COL4A4	1286	broad.mit.edu	37	chr2	227942679	227942679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcctgggtggcctcgctCtcctggtggaccaggaaatc	7	9	12	13	1	1	0	0	0	1	0	5	2	2	2	4	5	1	1	4	5	2	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942679C>T	ENST00000396625.3	-	25	2125	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E640K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	640	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCCTCGCTCTCCTGGTGGA	0.552																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1918-1920)Gag>Aag		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							25	29	28					2																	227942679		1812	4069	5881	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942679C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1918G>A	2.37:g.227942679C>T	ENSP00000379866:p.Glu640Lys					COL4A4_uc021vxs.1_Missense_Mutation_p.E640K	p.E640K	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	23	2019	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	640			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1918G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	c	6.851	0.526245	0.13066	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93247	-3.18;-3.19	5.82	-5.13	0.02884	.	.	.	.	.	D	0.82430	0.5035	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.66172	-0.5990	9	0.13108	T	0.6	.	15.2455	0.73504	0.0:0.2164:0.6663:0.1173	.	640	P53420	CO4A4_HUMAN	K	640	ENSP00000379866:E640K;ENSP00000328553:E640K	ENSP00000328553:E640K	E	-	1	0	COL4A4	227650923	0.000000	0.05858	0.029000	0.17559	0.169000	0.22640	-1.566000	0.02148	-1.201000	0.02659	-0.833000	0.03075	GAG		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227942679	C	T	227942679	3	4	277	1	0	0	0	0	1	0	0	0	3693	922	32	3	3250	3	COL4A4	2	227942679	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	15	227942679	15256694	10	19834			1	47		3	3	36	C		2.786984e-09
COL4A4	1286	broad.mit.edu	37	chr2	227942699	227942699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctggtggaccaggaaatCccagtcctgggggccccaca	8	6	12	15	0	0	0	0	0	0	0	3	2	3	2	6	5	0	0	6	5	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942699C>T	ENST00000396625.3	-	25	2105	c.1898G>A	c.(1897-1899)gGa>gAa	p.G633E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G633E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	633	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGGAAATCCCAGTCCTGG	0.602																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1897-1899)gGa>gAa		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							24	27	26					2																	227942699		1805	4071	5876	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942699C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1898G>A	2.37:g.227942699C>T	ENSP00000379866:p.Gly633Glu					COL4A4_uc021vxs.1_Missense_Mutation_p.G633E	p.G633E	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	23	1999	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	633			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1898G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540938	0.85917	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97505	-4.41;-4.41	5.82	5.82	0.92795	.	.	.	.	.	D	0.98937	0.9639	H	0.94306	3.52	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.99478	1.0947	9	0.72032	D	0.01	.	17.8873	0.88861	0.0:1.0:0.0:0.0	.	633	P53420	CO4A4_HUMAN	E	633	ENSP00000379866:G633E;ENSP00000328553:G633E	ENSP00000328553:G633E	G	-	2	0	COL4A4	227650943	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.549000	0.53681	2.765000	0.95021	0.650000	0.86243	GGA		0.602	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227942699	C	T	227942699	3	4	277	1	0	0	0	0	1	0	0	0	3693	855	30	3	3270	3	COL4A4	2	227942699	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	20	227942699	15256674	11	19835			1	47		3	3	36	C		2.786984e-09
LAMP3	27074	broad.mit.edu	37	chr3	182871533	182871533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatacagagtctgcttccGtttagaacctgataaattcc	11	15	6	9	1	1	3	0	1	1	2	3	3	3	3	3	0	3	2	3	0	6	8	rs140803277	byFrequency	TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:182871533G>A	ENST00000265598.3	-	2	951	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LAMP3_ENST00000466939.1_Silent_p.N208N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	232					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502													A|||	3	0.000599042	0	0	5008	,	,		17458	0.001		0	False		,,,				2504	0.002					uc003flh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(694-696)aaC>aaT		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.							104	99	101					3																	182871533		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871533G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.696C>T	3.37:g.182871533G>A							p.N232N	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		1	920	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		232					D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.696C>T	CCDS3242.1																																																																																				0.502	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			A	182871533	G	A	182871533	2	1	277	1	0	0	0	0	0	0	0	1	8619	1136	40	1		1	LAMP3	3	182871533	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08		182871533	15150897	12	19836											
EPHB3	2049	broad.mit.edu	37	chr3	184295702	184295702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctctggggcccagcaGctccaggagcagcttcccct	6	6	12	17	0	1	0	0	0	1	0	3	1	3	1	5	4	4	5	5	4	0	1	rs375352858		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184295702G>A	ENST00000330394.2	+	8	2108	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	552					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGCCCAGCAGCTCCAGGAGC	0.637																																						uc003foz.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1654-1656)caG>caA		Homo sapiens EPH receptor B3 (EPHB3), mRNA.							90	88	89					3																	184295702		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295702G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1656G>A	3.37:g.184295702G>A							p.Q552Q	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		7	2093	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		552					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1656G>A	CCDS3268.1																																																																																				0.637	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184295702	G	A	184295702	2	1	277	1	0	0	0	0	0	0	0	1	5176	962	34	3		3	EPHB3	3	184295702	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	1424169	184295702	13726728	13	19837											
C3orf70	285382	broad.mit.edu	37	chr3	184870498	184870498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagatagacagcccgtcGcacggctggaagtcgggtct	9	6	14	12	4	1	2	0	0	1	2	3	3	1	3	1	3	1	3	1	3	2	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184870498G>A	ENST00000335012.2	-	1	304	c.114C>T	c.(112-114)tgC>tgT	p.C38C		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	38										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGCCCGTCGCACGGCTGGA	0.642																																						uc003fpd.3																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						c.(112-114)tgC>tgT		Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.							31	27	28					3																	184870498		2202	4297	6499	SO:0001819	synonymous_variant	285382							g.chr3:184870498G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.114C>T	3.37:g.184870498G>A							p.C38C	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			0	305	-			38					B2RNY2|B9EH83	Silent	SNP	ENST00000335012.2	37	c.114C>T	CCDS33900.1																																																																																				0.642	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		A	184870498	G	A	184870498	2	1	277	1	0	0	0	0	0	0	0	1	2242	1079	38	1		1	C3orf70	3	184870498	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	574796	184870498	13151932	14	19838											
LIAS	6133	broad.mit.edu	37	chr4	39462478	39462478	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagataaaaaaaaggaactCctacagaatggaccagacct	19	5	7	10	0	0	3	0	0	0	3	1	5	1	5	4	2	2	0	4	2	7	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr4:39462478C>A	ENST00000449470.2	-	0	0				LIAS_ENST00000340169.2_Silent_p.L38L|LIAS_ENST00000381846.1_Silent_p.L38L|LIAS_ENST00000513731.1_Silent_p.L38L|LIAS_ENST00000261434.3_Silent_p.L38L|LIAS_ENST00000515061.1_3'UTR|RPL9_ENST00000295955.9_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						AAAAGGAACTCCTACAGAATG	0.398																																						uc003guf.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(112-114)ctC>ctA		Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Lipoic Acid(DB00166)						104	115	111					4																	39462478		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462478C>A	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462478C>A	Exception_encountered					RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Silent_p.L38L|LIAS_uc011bym.2_Silent_p.L38L|LIAS_uc003gug.3_Silent_p.L38L	p.L38L	NM_006859	NP_006850	O43766	LIAS_HUMAN			1	187	+			38						Silent	SNP	ENST00000449470.2	37	c.114C>A	CCDS3452.1																																																																																				0.398	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			A	39462478	C	A	39462478	1	1	277	0	1	0	0	0	0	0	0	0	8778	842	30	5		5	LIAS	4	39462478	5'Flank	SNP	C	TCGA-76-6661-01B-11D-1845-08		39462478	151691798	15	19839											
FBN2	2201	broad.mit.edu	37	chr5	127674667	127674667	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccactttcatagccttCgaagcactcgcactcaaagc	12	8	7	14	2	2	0	2	0	0	0	4	2	2	0	2	0	4	2	2	0	4	3	rs200060005		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:127674667C>A	ENST00000508053.1	-	32	4404	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1111*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1144*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1144	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1144K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507																																						uc003kuu.3																			1	Substitution - Missense(1)	p.E1144K(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3430-3432)Gaa>Taa		Homo sapiens fibrillin 2 (FBN2), mRNA.							106	85	92					5																	127674667		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674667C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3430G>T	5.37:g.127674667C>A	ENSP00000424571:p.Glu1144*					FBN2_uc003kuv.2_Nonsense_Mutation_p.E1111*	p.E1144*	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	25	3869	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1144			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.3430G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	47	13.593659	0.99751	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	5.13	4.25	0.50352	.	0.496860	0.21340	N	0.076149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.2378	0.82389	0.0:0.8672:0.1328:0.0	.	.	.	.	X	1144;1144;1111	.	ENSP00000262464:E1144X	E	-	1	0	FBN2	127702566	0.989000	0.36119	1.000000	0.80357	0.972000	0.66771	2.420000	0.44679	1.491000	0.48482	0.585000	0.79938	GAA		0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127674667	C	A	127674667	4	1	277	1	0	0	0	0	0	1	0	0	5703	893	31	5	5468	5	FBN2	5	127674667	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		127674667	53240593	16	19840											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862027	128862027	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagtggaagagggaaaCgatattcatacaaattacct	18	8	9	6	1	1	2	1	0	0	2	1	5	1	4	1	2	3	0	1	2	7	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:128862027C>T	ENST00000274487.4	+	4	1091	c.946C>T	c.(946-948)Cga>Tga	p.R316*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	316						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGAGGGAAACGATATTCATA	0.398																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(946-948)Cga>Tga		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							90	83	85					5																	128862027		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862027C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.946C>T	5.37:g.128862027C>T	ENSP00000274487:p.Arg316*					ADAMTS19_uc003kvc.1_Non-coding_Transcript	p.R316*	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	946	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	316						Nonsense_Mutation	SNP	ENST00000274487.4	37	c.946C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284383	0.59867	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3153	0.54953	0.2793:0.7207:0.0:0.0	.	.	.	.	X	316	.	.	R	+	1	2	ADAMTS19	128889926	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.238000	0.43070	2.765000	0.95021	0.557000	0.71058	CGA		0.398	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	128862027	C	T	128862027	4	4	277	1	0	0	0	0	0	1	0	0	264	528	19	1	960	1	ADAMTS19	5	128862027	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	1187360	128862027	52053233	17	19841											
PCDHA5	56143	broad.mit.edu	37	chr5	140203028	140203028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	8	6	15	12	6	0	1	0	0	0	1	1	4	0	2	1	3	4	3	1	3	2	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140203028C>T	ENST00000529859.1	+	1	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.D556D|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.D556D|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706																																						uc003lhl.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1666-1668)gaC>gaT		Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.							55	60	58					5																	140203028		2202	4298	6500	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140203028C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1668C>T	5.37:g.140203028C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.D556D|PCDHAC2_uc003lhj.1_Silent_p.D556D	p.D556D	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1668	+			571			Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1668C>T	CCDS54917.1																																																																																				0.706	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140203028	C	T	140203028	2	4	277	1	0	0	0	0	0	0	0	1	11527	535	19	1		1	PCDHA5	5	140203028	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	11341001	140203028	40712232	18	19842											
PCDHB5	26167	broad.mit.edu	37	chr5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgaacaatggagactgCgctagcaaaaacgccacaga	15	5	11	10	2	1	3	0	1	1	2	1	4	1	3	1	2	4	2	1	2	5	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140515027C>T	ENST00000231134.5	+	1	228	c.11C>T	c.(10-12)gCg>gTg	p.A4V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	4					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(10-12)gCg>gTg		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							88	78	81					5																	140515027		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515027C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.11C>T	5.37:g.140515027C>T	ENSP00000231134:p.Ala4Val						p.A4V	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	228	+			4					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.11C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753099	0.69648	.	.	ENSG00000113209	ENST00000231134	T	0.51071	0.72	5.38	4.46	0.54185	.	.	.	.	.	T	0.45418	0.1341	L	0.57536	1.79	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.22556	-1.0213	9	0.30078	T	0.28	.	14.0354	0.64642	0.212:0.788:0.0:0.0	.	4	Q9Y5E4	PCDB5_HUMAN	V	4	ENSP00000231134:A4V	ENSP00000231134:A4V	A	+	2	0	PCDHB5	140495211	0.000000	0.05858	0.557000	0.28306	0.970000	0.65996	0.631000	0.24568	2.687000	0.91594	0.561000	0.74099	GCG		0.458	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140515027	C	T	140515027	3	4	277	1	0	0	0	0	1	0	0	0	11545	768	27	1	13	1	PCDHB5	5	140515027	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	311999	140515027	40400233	19	19843											
DDX41	51428	broad.mit.edu	37	chr5	176941751	176941751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcccccaatgcagaGggcgcagcgcaggagtggtg	9	4	17	11	2	0	1	0	0	0	1	0	3	0	3	2	4	3	3	2	4	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:176941751G>C	ENST00000507955.1	-	9	1409	c.886C>G	c.(886-888)Ctc>Gtc	p.L296V	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	296	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAATGCAGAGGGCGCAGCGC	0.662																																						uc003mho.3																			0											c.(886-888)Ctc>Gtc		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.							80	86	84					5																	176941751		2202	4298	6500	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176941751G>C	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.886C>G	5.37:g.176941751G>C	ENSP00000422753:p.Leu296Val					DDX41_uc003mhn.3_Missense_Mutation_p.L165V|DDX41_uc003mhp.3_Missense_Mutation_p.L165V|DDX41_uc003mhq.1_Missense_Mutation_p.L76V	p.L296V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		8	907	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	296			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.886C>G	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534857	0.85812	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.17528	2.27;2.27	5.74	4.87	0.63330	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.137962	0.49916	D	0.000124	T	0.27278	0.0669	L	0.31526	0.94	0.80722	D	1	P;D	0.60575	0.932;0.988	P;D	0.63877	0.768;0.919	T	0.01715	-1.1289	10	0.36615	T	0.2	-30.1399	14.4934	0.67667	0.07:0.0:0.9299:0.0	.	170;296	B3KRK2;Q9UJV9	.;DDX41_HUMAN	V	314;296	ENSP00000330349:L314V;ENSP00000422753:L296V	ENSP00000330349:L314V	L	-	1	0	DDX41	176874357	1.000000	0.71417	0.731000	0.30826	0.975000	0.68041	9.297000	0.96120	1.426000	0.47256	0.655000	0.94253	CTC		0.662	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		C	176941751	G	C	176941751	3	2	277	1	0	0	0	0	1	0	0	0	4361	1000	35	5	1018	5	DDX41	5	176941751	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	36426724	176941751	3973509	20	19844											
MAML1	9794	broad.mit.edu	37	chr5	179201198	179201198	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaacgtgggccagaacAcctccgtctcagctgcctat	10	7	9	15	2	1	2	1	0	1	2	3	2	2	2	5	1	4	1	5	1	3	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:179201198A>C	ENST00000292599.3	+	5	2634	c.2371A>C	c.(2371-2373)Acc>Ccc	p.T791P	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGAACACCTCCGTCTC	0.592																																						uc003mkm.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2371-2373)Acc>Ccc		Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.							39	40	40					5																	179201198		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201198A>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2371A>C	5.37:g.179201198A>C	ENSP00000292599:p.Thr791Pro					MAML1_uc003mkn.1_Intron	p.T791P	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	2634	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	791						Missense_Mutation	SNP	ENST00000292599.3	37	c.2371A>C	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	8.291	0.817724	0.16607	.	.	ENSG00000161021	ENST00000292599	T	0.22743	1.94	4.94	-0.779	0.10973	.	0.860663	0.10447	N	0.673497	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	1	B	0.33000	0.393	B	0.23018	0.043	T	0.17715	-1.0360	10	0.30078	T	0.28	-7.179	10.4061	0.44258	0.5206:0.0:0.4794:0.0	.	791	Q92585	MAML1_HUMAN	P	791	ENSP00000292599:T791P	ENSP00000292599:T791P	T	+	1	0	MAML1	179133804	0.000000	0.05858	0.079000	0.20413	0.864000	0.49448	0.480000	0.22244	-0.135000	0.11495	-0.546000	0.04227	ACC		0.592	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		C	179201198	A	C	179201198	3	2	277	1	0	0	0	0	1	0	0	0	9205	159	6	5	2389	5	MAML1	5	179201198	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	2259447	179201198	1714062	21	19845											
GTF3C6	112495	broad.mit.edu	37	chr6	111288823	111288823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtagcttcagccccaGataaatctttggaattggaa	13	11	10	7	0	2	1	1	0	1	1	2	3	2	3	2	3	2	2	2	3	6	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:111288823G>T	ENST00000329970.7	+	6	682	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	158					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTCAGCCCCAGATAAATCTTT	0.383																																						uc003pum.3																			0		p.P157Q(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(472-474)Gat>Tat		Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA.							103	108	107					6																	111288823		2203	4300	6503	SO:0001583	missense	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288823G>T	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.472G>T	6.37:g.111288823G>T	ENSP00000357863:p.Asp158Tyr						p.D158Y	NM_138408	NP_612417	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	5	682	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	158					Q5VXN2	Missense_Mutation	SNP	ENST00000329970.7	37	c.472G>T	CCDS5087.1	.	.	.	.	.	.	.	.	.	.	g	16.62	3.172673	0.57584	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.15	3.37	0.38596	.	0.265062	0.35838	N	0.002944	T	0.61110	0.2321	M	0.75447	2.3	0.37406	D	0.913054	D	0.71674	0.998	P	0.60173	0.87	T	0.67730	-0.5595	9	0.87932	D	0	-32.6669	11.0977	0.48155	0.1523:0.0:0.8477:0.0	.	158	Q969F1	TF3C6_HUMAN	Y	158	.	ENSP00000357863:D158Y	D	+	1	0	GTF3C6	111395516	0.992000	0.36948	0.688000	0.30117	0.670000	0.39368	2.584000	0.46102	0.692000	0.31613	0.491000	0.48974	GAT		0.383	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		T	111288823	G	T	111288823	3	4	277	1	0	0	0	0	1	0	0	0	6877	942	33	5	494	5	GTF3C6	6	111288823	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		111288823	59826244	22	19846											
NMBR	4829	broad.mit.edu	37	chr6	142409496	142409496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagaagtagcgcgaggcGtccaccgggacgcaggtgag	10	4	17	10	6	0	2	0	1	0	1	2	5	1	3	2	3	1	2	2	3	3	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:142409496G>A	ENST00000258042.1	-	1	440	c.300C>T	c.(298-300)gaC>gaT	p.D100D	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	100					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592																																						uc003qiu.3																			0		p.V99L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(298-300)gaC>gaT		Homo sapiens neuromedin B receptor (NMBR), mRNA.							74	63	67					6																	142409496		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409496G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.300C>T	6.37:g.142409496G>A							p.D100D	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	0	441	-	Breast(32;0.155)		100					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.300C>T	CCDS5196.1																																																																																				0.592	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			A	142409496	G	A	142409496	2	1	277	1	0	0	0	0	0	0	0	1	10487	1136	40	1		1	NMBR	6	142409496	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	31120673	142409496	28705571	23	19847											
HECW1	23072	broad.mit.edu	37	chr7	43351508	43351508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaggggcggcccccaCgatggcgtcaccattccccg	6	5	12	18	4	2	0	2	0	0	0	3	2	3	0	6	4	0	0	6	4	0	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:43351508C>T	ENST00000395891.2	+	4	779	c.174C>T	c.(172-174)caC>caT	p.H58H	HECW1_ENST00000453890.1_Silent_p.H58H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGGCCCCCACGATGGCGTCA	0.632																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(172-174)caC>caT		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							47	57	53					7																	43351508		2066	4187	6253	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351508C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.174C>T	7.37:g.43351508C>T						HECW1_uc011kbi.1_Silent_p.H58H|HECW1_uc003tie.1_Silent_p.H90H	p.H58H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			3	779	+			58					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.174C>T	CCDS5469.2																																																																																				0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		T	43351508	C	T	43351508	2	4	277	1	0	0	0	0	0	0	0	1	7042	535	19	1		1	HECW1	7	43351508	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		43351508	115787155	24	19848											
EGFR	1956	broad.mit.edu	37	chr7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattatgtggtgacagatCacggctcgtgcgtccgagcc	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:55223543C>T	ENST00000275493.2	+	8	1087	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_ENST00000344576.2_Missense_Mutation_p.H304Y|EGFR_ENST00000342916.3_Missense_Mutation_p.H304Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H304Y|EGFR_ENST00000454757.2_Missense_Mutation_p.H251Y|EGFR_ENST00000420316.2_Missense_Mutation_p.H304Y|EGFR_ENST00000455089.1_Missense_Mutation_p.H259Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0		p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(910-912)Cac>Tac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66	61	62					7																	55223543		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223543C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.910C>T	7.37:g.55223543C>T	ENSP00000275493:p.His304Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.H304Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		304					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.910C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802534	0.16397	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.82923	2.615	0.80722	D	1	B;B;B;B;B	0.33288	0.003;0.001;0.406;0.065;0.047	B;B;B;B;B	0.30316	0.005;0.01;0.114;0.024;0.056	T	0.64279	-0.6445	10	0.02654	T	1	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	259;304;304;304;304	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	259;304;174;304;304;304;304;251;98	ENSP00000415559:H259Y;ENSP00000342376:H304Y;ENSP00000345973:H304Y;ENSP00000413843:H304Y;ENSP00000275493:H304Y;ENSP00000410031:H304Y;ENSP00000395243:H251Y	ENSP00000275493:H304Y	H	+	1	0	EGFR	55191037	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.344000	0.52174	2.655000	0.90218	0.655000	0.94253	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55223543	C	T	55223543	3	4	277	1	0	0	0	0	1	0	0	0	4967	826	29	3	940	3	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	11872035	55223543	103915120	25	19849											
FZD9	8326	broad.mit.edu	37	chr7	72849307	72849307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctactgctctactacttcGgcatggccagctcgctctgg	5	12	9	15	2	2	0	0	0	2	0	5	0	3	0	2	3	5	4	2	3	3	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:72849307G>A	ENST00000344575.3	+	1	1199	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	324					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTACTACTTCGGCATGGCCAG	0.657																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(970-972)Ggc>Agc		Homo sapiens frizzled family receptor 9 (FZD9), mRNA.							92	83	86					7																	72849307		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849307G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.970G>A	7.37:g.72849307G>A	ENSP00000345785:p.Gly324Ser						p.G324S	NM_003508	NP_003499	O00144	FZD9_HUMAN			0	1199	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	324						Missense_Mutation	SNP	ENST00000344575.3	37	c.970G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317040	0.60524	.	.	ENSG00000188763	ENST00000344575	T	0.70749	-0.51	4.17	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	T	0.78666	0.4319	L	0.54908	1.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77568	-0.2539	10	0.49607	T	0.09	.	11.1489	0.48447	0.0924:0.0:0.9076:0.0	.	324	O00144	FZD9_HUMAN	S	324	ENSP00000345785:G324S	ENSP00000345785:G324S	G	+	1	0	FZD9	72487243	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.977000	0.88081	0.866000	0.35629	0.467000	0.42956	GGC		0.657	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			A	72849307	G	A	72849307	3	1	277	1	0	0	0	0	1	0	0	0	6137	1116	39	2	972	2	FZD9	7	72849307	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	17625764	72849307	86289356	26	19850											
SEMA3E	9723	broad.mit.edu	37	chr7	82997104	82997104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagaattccttgtacCatggttttgctccctgcgag	7	13	10	11	1	0	1	0	0	0	1	2	2	2	1	3	1	4	5	3	1	3	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:82997104C>A	ENST00000307792.3	-	17	2593	c.2126G>T	c.(2125-2127)tGg>tTg	p.W709L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.W649L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	709					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTTGTACCATGGTTTTGC	0.463																																						uc003uhy.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(2125-2127)tGg>tTg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							148	134	139					7																	82997104		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997104C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2126G>T	7.37:g.82997104C>A	ENSP00000303212:p.Trp709Leu					SEMA3E_uc022agy.1_Missense_Mutation_p.W649L	p.W709L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			16	2747	-		Medulloblastoma(109;0.109)	709					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2126G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099865	0.94197	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.75821	-0.97;-0.97	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.72894	2.215	0.80722	D	1	P	0.52316	0.952	P	0.60682	0.878	D	0.84408	0.0564	10	0.51188	T	0.08	.	19.9343	0.97131	0.0:1.0:0.0:0.0	.	709	O15041	SEM3E_HUMAN	L	709;649;709	ENSP00000303212:W709L;ENSP00000405052:W649L	ENSP00000303212:W709L	W	-	2	0	SEMA3E	82835040	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.228000	0.78079	2.719000	0.93026	0.585000	0.79938	TGG		0.463	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	82997104	C	A	82997104	3	1	277	1	0	0	0	0	1	0	0	0	14028	595	21	5	205	5	SEMA3E	7	82997104	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	10147797	82997104	76141559	27	19851											
CYP3A5	1577	broad.mit.edu	37	chr7	99261679	99261679	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttggaaacagagagacaTttaatgcttcaaaaactggg	15	11	9	6	0	1	2	1	0	0	2	1	4	1	3	0	2	3	1	0	2	4	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:99261679T>G	ENST00000222982.4	-	8	809	c.710A>C	c.(709-711)aAt>aCt	p.N237T	CYP3A5_ENST00000343703.5_Missense_Mutation_p.N227T|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'Flank	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	237					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGAGAGACATTTAATGCTTC	0.328																																						uc003urq.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(709-711)aAt>aCt		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.							87	85	85					7																	99261679		2203	4299	6502	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99261679T>G	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.710A>C	7.37:g.99261679T>G	ENSP00000222982:p.Asn237Thr					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.N124T|CYP3A7_uc011kiy.2_Missense_Mutation_p.N227T|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	p.N237T	NM_000777	NP_000768	P24462	CP3A7_HUMAN			7	812	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		237					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.710A>C	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285089	0.40394	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.68903	-0.36;-0.36	4.61	0.768	0.18487	.	0.386435	0.30989	N	0.008466	T	0.72252	0.3437	M	0.82823	2.61	0.09310	N	1	P;P	0.44478	0.803;0.836	B;P	0.50934	0.418;0.654	T	0.65307	-0.6200	10	0.72032	D	0.01	.	7.2479	0.26131	0.0:0.31:0.0:0.69	.	227;237	F5H4S0;P20815	.;CP3A5_HUMAN	T	237;227	ENSP00000222982:N237T;ENSP00000342969:N227T	ENSP00000222982:N237T	N	-	2	0	CYP3A5	99099615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.196000	0.17176	-0.118000	0.11851	-0.408000	0.06270	AAT		0.328	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			G	99261679	T	G	99261679	3	3	277	1	0	0	0	0	1	0	0	0	4180	1493	52	5	822	5	CYP3A5	7	99261679	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	16264575	99261679	59876984	28	19852											
ASZ1	136991	broad.mit.edu	37	chr7	117067470	117067470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgctctcgctactctcGcctccgccagccactggcag	4	9	8	20	4	2	0	0	0	2	0	7	0	4	0	5	1	2	3	5	1	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:117067470G>A	ENST00000284629.2	-	1	107	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCTACTCTCGCCTCCGCCAG	0.662											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(43-45)ggC>ggT		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							54	51	52					7																	117067470		2203	4300	6503	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067470G>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.45C>T	7.37:g.117067470G>A			OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Silent_p.G15G|ASZ1_uc011knp.1_5'UTR	p.G15G	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		0	108	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		15						Silent	SNP	ENST00000284629.2	37	c.45C>T	CCDS5772.1																																																																																				0.662	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		A	117067470	G	A	117067470	2	1	277	1	0	0	0	0	0	0	0	1	1069	1074	38	1		1	ASZ1	7	117067470	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	17805791	117067470	42071193	29	19853											
CHPF2	54480	broad.mit.edu	37	chr7	150934492	150934492	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaccgtgctgaccccCgaaggggaggcagggctgag	9	4	16	12	2	0	3	0	3	0	0	0	5	0	4	4	4	2	3	4	4	2	0	rs200159004		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:150934492C>G	ENST00000035307.2	+	4	2557	c.1044C>G	c.(1042-1044)ccC>ccG	p.P348P	CHPF2_ENST00000495645.1_Silent_p.P340P|RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	348					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCTGACCCCCGAAGGGGAGG	0.627																																						uc003wjr.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1042-1044)ccC>ccG		Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.							50	51	51					7																	150934492		2203	4300	6503	SO:0001819	synonymous_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934492C>G	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1044C>G	7.37:g.150934492C>G						CHPF2_uc003wjq.1_Silent_p.P340P|CHPF2_uc022aqb.1_5'Flank	p.P348P	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN			3	2557	+			348					B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	ENST00000035307.2	37	c.1044C>G	CCDS34779.1																																																																																				0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		G	150934492	C	G	150934492	2	3	277	1	0	0	0	0	0	0	0	1	3369	639	23	5		5	CHPF2	7	150934492	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	33867022	150934492	8204171	30	19854											
RP1L1	94137	broad.mit.edu	37	chr8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagcttccagaatatcGtggcactgagccatcctggc	9	9	11	12	2	0	3	0	2	0	1	3	4	2	3	3	2	2	2	3	2	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:10469501G>A	ENST00000382483.3	-	4	2330	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	703					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAATATCGTGGCACTGAG	0.617																																						uc003wtc.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2107-2109)Cga>Tga		Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.							50	60	57					8																	10469501		2113	4219	6332	SO:0001587	stop_gained	94137				intracellular signal transduction			g.chr8:10469501G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2107C>T	8.37:g.10469501G>A	ENSP00000371923:p.Arg703*						p.R703*	NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	2336	-			703					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	ENST00000382483.3	37	c.2107C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	37	6.599976	0.97697	.	.	ENSG00000183638	ENST00000382483	.	.	.	5.14	-4.57	0.03421	.	2.498500	0.01893	N	0.038681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.986	4.4022	0.11392	0.0798:0.4034:0.1537:0.3631	.	.	.	.	X	703	.	ENSP00000371923:R703X	R	-	1	2	RP1L1	10506911	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.285000	0.08410	-0.666000	0.05310	0.462000	0.41574	CGA		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10469501	G	A	10469501	4	1	277	1	0	0	0	0	0	1	0	0	13533	1153	40	1	5099	1	RP1L1	8	10469501	Nonsense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		10469501	135894521	31	19855											
BLK	640	broad.mit.edu	37	chr8	11406564	11406564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctggccaggtcactcGtcacaggaagagaaggctat	10	7	15	9	1	2	1	2	0	0	1	3	3	2	2	1	6	0	2	1	6	3	1	rs371256341		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:11406564G>A	ENST00000259089.4	+	5	893	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	BLK_ENST00000529894.1_Missense_Mutation_p.V30I	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	101	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V101I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGGTCACTCGTCACAGGAAG	0.592																																						uc003wty.3																			1	Substitution - Missense(1)	p.V101I(2)|p.L100L(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(301-303)Gtc>Atc		Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.		G	ILE/VAL	0,4406		0,0,2203	97	76	83		301	-5.6	0	8		83	1,8599		0,1,4299	no	missense	BLK	NM_001715.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	101/506	11406564	1,13005	2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11406564G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.301G>A	8.37:g.11406564G>A	ENSP00000259089:p.Val101Ile						p.V101I	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	4	882	+			101			SH3.		Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.301G>A	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	6.790	0.514753	0.12944	0.0	1.16E-4	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	T;T	0.49432	0.98;0.78	5.1	-5.55	0.02536	Src homology-3 domain (3);	0.955879	0.08518	N	0.933908	T	0.32556	0.0833	L	0.31526	0.94	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.24154	-1.0168	10	0.40728	T	0.16	.	11.6223	0.51126	0.6951:0.0919:0.213:0.0	.	101	P51451	BLK_HUMAN	I	101;101;30	ENSP00000259089:V101I;ENSP00000433663:V30I	ENSP00000259089:V101I	V	+	1	0	BLK	11443973	0.000000	0.05858	0.046000	0.18839	0.281000	0.26958	-0.611000	0.05622	-1.350000	0.02199	0.462000	0.41574	GTC		0.592	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			A	11406564	G	A	11406564	3	1	277	1	0	0	0	0	1	0	0	0	1444	1145	40	1	315	1	BLK	8	11406564	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	937063	11406564	134957458	32	19856											
SPATC1	375686	broad.mit.edu	37	chr8	145095802	145095802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccccccatcccccttcccGaatgcataattccccaaccc	8	8	3	22	1	0	0	0	0	0	0	3	1	3	0	9	0	3	1	9	0	3	3	rs372423052		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:145095802G>A	ENST00000377470.3	+	3	1202	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	SPATC1_ENST00000447830.2_Missense_Mutation_p.R367Q	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	367						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTTCCCGAATGCATAAT	0.642																																						uc011lkw.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1099-1101)cGa>cAa		Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	1,4399		0,1,2199	185	69	109		1100,1100	1.5	0	8		109	0,8590		0,0,4295	no	missense,missense	SPATC1	NM_001134374.1,NM_198572.2	43,43	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	367/442,367/592	145095802	1,12989	2200	4295	6495	SO:0001583	missense	375686							g.chr8:145095802G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1100G>A	8.37:g.145095802G>A	ENSP00000366690:p.Arg367Gln					SPATC1_uc011lkx.2_Missense_Mutation_p.R367Q	p.R367Q	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1202	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		367					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1100G>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605305	0.46423	2.27E-4	0.0	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.49432	0.78	2.58	1.54	0.23209	.	0.284376	0.19156	N	0.121330	T	0.55369	0.1916	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.79108	0.992;0.792	T	0.44967	-0.9293	10	0.13853	T	0.58	.	6.5255	0.22299	0.0:0.3061:0.6939:0.0	.	367;367	B4DWW9;Q76KD6	.;SPERI_HUMAN	Q	367	ENSP00000366690:R367Q	ENSP00000366690:R367Q	R	+	2	0	SPATC1	145167790	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.032000	0.13732	1.450000	0.47717	0.462000	0.41574	CGA		0.642	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		A	145095802	G	A	145095802	3	1	277	1	0	0	0	0	1	0	0	0	15016	1058	37	2	1110	2	SPATC1	8	145095802	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	133689238	145095802	1268220	33	19857											
PIP5KL1	138429	broad.mit.edu	37	chr9	130689473	130689473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtagaagacgctctgcatGacgatgaagtacgtctgggg	10	8	16	7	3	2	4	0	2	2	2	2	5	2	4	0	3	2	4	0	3	4	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr9:130689473G>A	ENST00000388747.4	-	7	653	c.609C>T	c.(607-609)gtC>gtT	p.V203V	PIP5KL1_ENST00000300432.3_5'UTR|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	203	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGCTCTGCATGACGATGAAGT	0.697																																						uc011mao.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						c.(607-609)gtC>gtT		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.							30	30	30					9																	130689473		2203	4300	6503	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130689473G>A	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.609C>T	9.37:g.130689473G>A						PIP5KL1_uc004bsu.3_5'UTR	p.V203V	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			6	654	-			203			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.609C>T	CCDS48030.1																																																																																				0.697	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		A	130689473	G	A	130689473	2	1	277	1	0	0	0	0	0	0	0	1	11942	1277	45	3		3	PIP5KL1	9	130689473	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08		130689473	10523958	34	19858											
GRID1	2894	broad.mit.edu	37	chr10	87628864	87628864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgtcctttgcagacggaAagatttgccggaccacggtc	9	10	12	10	3	0	2	0	0	0	2	2	5	1	4	3	3	2	1	3	3	1	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:87628864A>G	ENST00000327946.7	-	6	939	c.854T>C	c.(853-855)tTt>tCt	p.F285S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	285					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGCAGACGGAAAGATTTGCCG	0.542										Multiple Myeloma(13;0.14)																												uc001kdl.1																			0		p.I284F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(853-855)tTt>tCt		Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	L-Glutamic Acid(DB00142)						198	159	172					10																	87628864		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628864A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.854T>C	10.37:g.87628864A>G	ENSP00000330148:p.Phe285Ser	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_Non-coding_Transcript	p.F285S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			5	955	-			285					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.854T>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597507	0.87055	.	.	ENSG00000182771	ENST00000327946	T	0.81330	-1.48	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.85921	0.1446	10	0.31617	T	0.26	.	15.1599	0.72775	1.0:0.0:0.0:0.0	.	285	Q9ULK0	GRID1_HUMAN	S	285	ENSP00000330148:F285S	ENSP00000330148:F285S	F	-	2	0	GRID1	87618844	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.246000	0.95438	2.169000	0.68431	0.533000	0.62120	TTT		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		G	87628864	A	G	87628864	3	3	277	1	0	0	0	0	1	0	0	0	6771	14	1	4	2219	4	GRID1	10	87628864	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		87628864	47905883	35	19859											
PTEN	5728	broad.mit.edu	37	chr10	89720664	89720664	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggacaaaatgtttcActtttgggtaaatacattct	12	18	6	5	0	2	0	1	0	1	0	2	1	2	1	0	2	1	2	0	2	6	9			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:89720664A>C	ENST00000371953.3	+	8	2172	c.815A>C	c.(814-816)cAc>cCc	p.H272P	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	272	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H272R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAATGTTTCACTTTTGGGTA	0.269		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.H272R(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.F271L(1)|p.G165_K342del(1)|p.H272Y(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(814-816)cAc>cCc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							25	26	26					10																	89720664		2185	4265	6450	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720664A>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.815A>C	10.37:g.89720664A>C	ENSP00000361021:p.His272Pro	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.H272P	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1847	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	272			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.815A>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197924	0.79015	.	.	ENSG00000171862	ENST00000371953	D	0.86432	-2.12	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.93456	0.6806	9	.	.	.	-0.3224	14.9228	0.70854	1.0:0.0:0.0:0.0	.	272	P60484	PTEN_HUMAN	P	272	ENSP00000361021:H272P	.	H	+	2	0	PTEN	89710644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	1.942000	0.56320	0.482000	0.46254	CAC		0.269	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89720664	A	C	89720664	3	2	277	1	0	0	0	0	1	0	0	0	12738	159	6	5	845	5	PTEN	10	89720664	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	2091800	89720664	45814083	36	19860											
KCNA4	3739	broad.mit.edu	37	chr11	30033088	30033088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactcaaaggaaaaccataCaatacagactgtttccacga	19	7	5	10	1	1	1	1	0	0	1	2	3	2	2	2	1	4	1	2	1	7	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:30033088C>A	ENST00000328224.6	-	2	2371	c.1138G>T	c.(1138-1140)Gta>Tta	p.V380L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	380					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAAAACCATACAATACAGACT	0.433																																						uc021qfi.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1138-1140)Gta>Tta		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							84	79	81					11																	30033088		2025	4210	6235	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033088C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1138G>T	11.37:g.30033088C>A	ENSP00000328511:p.Val380Leu					KCNA4_uc001msk.3_Missense_Mutation_p.V380L	p.V380L	NM_002233	NP_002224	P22459	KCNA4_HUMAN			0	1138	-			380						Missense_Mutation	SNP	ENST00000328224.6	37	c.1138G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494730	0.26774	.	.	ENSG00000182255	ENST00000328224	D	0.98531	-4.98	5.3	4.28	0.50868	Ion transport (1);	0.124552	0.52532	D	0.000074	D	0.94889	0.8348	L	0.33668	1.02	0.46096	D	0.998861	B	0.29115	0.233	B	0.30251	0.113	D	0.92411	0.5937	10	0.72032	D	0.01	.	6.3201	0.21213	0.0:0.7793:0.0:0.2207	.	380	P22459	KCNA4_HUMAN	L	380	ENSP00000328511:V380L	ENSP00000328511:V380L	V	-	1	0	KCNA4	29989664	1.000000	0.71417	0.213000	0.23690	0.357000	0.29423	4.154000	0.58125	2.485000	0.83878	0.563000	0.77884	GTA		0.433	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		A	30033088	C	A	30033088	3	1	277	1	0	0	0	0	1	0	0	0	8005	478	17	5	827	5	KCNA4	11	30033088	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		30033088	104973428	37	19861											
OR5A1	219982	broad.mit.edu	37	chr11	59211187	59211187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcaaccacttcttctgCgacctcccaccagtcctggc	8	10	5	18	1	4	0	2	0	2	0	6	1	6	0	5	1	2	0	5	1	1	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:59211187C>T	ENST00000302030.2	+	1	571	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537																																						uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(544-546)tgC>tgT		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							240	236	237					11																	59211187		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211187C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.546C>T	11.37:g.59211187C>T							p.C182C	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	546	+			182					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.546C>T	CCDS31561.1																																																																																				0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211187	C	T	59211187	2	4	277	1	0	0	0	0	0	0	0	1	11139	776	27	1		1	OR5A1	11	59211187	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	29178099	59211187	75795329	38	19862											
TMEM109	79073	broad.mit.edu	37	chr11	60687316	60687316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagagagaagccccaGttgatgtcttgacccagata	15	7	10	9	0	1	6	0	2	1	4	1	7	1	6	3	0	2	1	3	0	4	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:60687316G>C	ENST00000227525.3	+	2	554	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L	TMEM109_ENST00000536171.1_Missense_Mutation_p.V51L|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	51					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGAAGCCCCAGTTGATGTCTT	0.557																																						uc001nqg.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(151-153)Gtt>Ctt		Homo sapiens transmembrane protein 109 (TMEM109), mRNA.							149	133	138					11																	60687316		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687316G>C		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.151G>C	11.37:g.60687316G>C	ENSP00000227525:p.Val51Leu						p.V51L	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN			1	529	+			51						Missense_Mutation	SNP	ENST00000227525.3	37	c.151G>C	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115906	0.37339	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	2.26	0.28386	.	0.974671	0.08386	N	0.953796	T	0.34337	0.0894	L	0.50333	1.59	0.09310	N	1	B	0.21606	0.058	B	0.22601	0.04	T	0.32534	-0.9903	9	0.37606	T	0.19	-33.5527	3.4111	0.07359	0.0927:0.1716:0.5583:0.1774	.	51	Q9BVC6	TM109_HUMAN	L	51	.	ENSP00000227525:V51L	V	+	1	0	TMEM109	60443892	0.000000	0.05858	0.001000	0.08648	0.313000	0.28021	0.379000	0.20585	0.622000	0.30249	0.563000	0.77884	GTT		0.557	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		C	60687316	G	C	60687316	3	2	277	1	0	0	0	0	1	0	0	0	16022	1029	36	5	153	5	TMEM109	11	60687316	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	1476129	60687316	74319200	39	19863											
RIN1	9610	broad.mit.edu	37	chr11	66102539	66102539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgcgcactttgaagCttctcttgaatttctcccgc	7	13	8	13	3	2	2	0	2	2	0	4	3	2	3	1	1	1	2	1	1	2	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:66102539C>T	ENST00000311320.4	-	6	857	c.731G>A	c.(730-732)aGc>aAc	p.S244N	RIN1_ENST00000530056.1_Missense_Mutation_p.S139N|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000424433.2_Missense_Mutation_p.S139N	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	244					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACTTTGAAGCTTCTCTTGAA	0.662																																						uc001ohn.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(730-732)aGc>aAc		Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.							65	62	63					11																	66102539		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102539C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.731G>A	11.37:g.66102539C>T	ENSP00000310406:p.Ser244Asn					RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S139N|RIN1_uc010rpa.1_Missense_Mutation_p.S139N	p.S244N	NM_004292	NP_004283	Q13671	RIN1_HUMAN			5	858	-			244					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.731G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676091	0.88445	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.18338	2.76;2.63;2.22	4.43	4.43	0.53597	.	0.184523	0.45126	D	0.000389	T	0.36441	0.0967	M	0.61703	1.905	0.38615	D	0.951002	D;D	0.63880	0.993;0.99	D;P	0.70227	0.968;0.868	T	0.18871	-1.0323	10	0.48119	T	0.1	-20.9476	12.9046	0.58145	0.0:1.0:0.0:0.0	.	139;244	E9PNR2;Q13671	.;RIN1_HUMAN	N	244;139;139	ENSP00000310406:S244N;ENSP00000400560:S139N;ENSP00000432798:S139N	ENSP00000310406:S244N	S	-	2	0	RIN1	65859115	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.105000	0.57797	2.183000	0.69458	0.462000	0.41574	AGC		0.662	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		T	66102539	C	T	66102539	3	4	277	1	0	0	0	0	1	0	0	0	13371	797	28	3	1640	3	RIN1	11	66102539	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	5415223	66102539	68903977	40	19864											
NLRX1	79671	broad.mit.edu	37	chr11	119044727	119044727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttccggctggcaggcacgGgactttgtagtgacccggag	7	8	15	11	3	0	1	0	1	0	0	1	3	1	3	2	5	0	4	2	5	1	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:119044727G>A	ENST00000409109.1	+	5	1356	c.769G>A	c.(769-771)Gga>Aga	p.G257R	NLRX1_ENST00000292199.2_Missense_Mutation_p.G257R|NLRX1_ENST00000409991.1_Missense_Mutation_p.G257R|NLRX1_ENST00000409265.4_Missense_Mutation_p.G257R|NLRX1_ENST00000525863.1_Missense_Mutation_p.G257R	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	257	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCAGGCACGGGACTTTGTAG	0.592																																						uc001pvu.3																			0		p.T256T(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(769-771)Gga>Aga		Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.							83	71	75					11																	119044727		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044727G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.769G>A	11.37:g.119044727G>A	ENSP00000387334:p.Gly257Arg					NLRX1_uc010rzc.1_Missense_Mutation_p.G79R|NLRX1_uc001pvv.3_Missense_Mutation_p.G257R|NLRX1_uc001pvw.3_Missense_Mutation_p.G257R|NLRX1_uc001pvx.3_Missense_Mutation_p.G257R	p.G257R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	984	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	257			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.769G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426434	0.43020	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.39;-0.39;-0.48;-0.39;-0.48	5.72	4.75	0.60458	NACHT nucleoside triphosphatase (1);	0.329091	0.29876	N	0.010978	T	0.59824	0.2222	N	0.11427	0.14	0.38777	D	0.954687	P;P	0.46512	0.879;0.681	P;P	0.48627	0.572;0.584	T	0.66432	-0.5925	10	0.48119	T	0.1	.	13.881	0.63682	0.0:0.0:0.8479:0.1521	.	257;257	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	R	257	ENSP00000386851:G257R;ENSP00000292199:G257R;ENSP00000386858:G257R;ENSP00000387334:G257R;ENSP00000433442:G257R	ENSP00000292199:G257R	G	+	1	0	NLRX1	118549937	1.000000	0.71417	0.956000	0.39512	0.094000	0.18550	7.482000	0.81143	2.700000	0.92200	0.561000	0.74099	GGA		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119044727	G	A	119044727	3	1	277	1	0	0	0	0	1	0	0	0	10485	1233	43	3	783	3	NLRX1	11	119044727	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	52942188	119044727	15961789	41	19865											
KDM5A	5927	broad.mit.edu	37	chr12	402172	402172	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttgatttgtctgcacctAattttaatttcttctttcta	7	22	3	9	0	4	1	0	1	4	0	4	1	4	1	2	0	1	1	2	0	3	9			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:402172A>C	ENST00000399788.2	-	27	4981	c.4619T>G	c.(4618-4620)tTa>tGa	p.L1540*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.L1540*|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1540	Lys-rich.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTCTGCACCTAATTTTAATTT	0.378			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0		p.K1540M(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(4618-4620)tTa>tGa		Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.							141	132	135					12																	402172		1804	4077	5881	SO:0001587	stop_gained	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:402172A>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4619T>G	12.37:g.402172A>C	ENSP00000382688:p.Leu1540*					KDM5A_uc021qsr.1_Nonsense_Mutation_p.L91*	p.L1540*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			26	4982	-			1540			Lys-rich.		A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	c.4619T>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	A	47	13.154979	0.99723	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	.	.	.	5.77	5.77	0.91146	.	0.405411	0.24483	N	0.038140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2305	16.0828	0.81017	1.0:0.0:0.0:0.0	.	.	.	.	X	1540	.	ENSP00000372265:L1540X	L	-	2	0	KDM5A	272433	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	6.345000	0.72995	2.199000	0.70637	0.528000	0.53228	TTA		0.378	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	402172	A	C	402172	4	2	277	1	0	0	0	0	0	1	0	0	8133	372	13	5	461	5	KDM5A	12	402172	Nonsense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		402172	133449723	42	19866											
CD163	9332	broad.mit.edu	37	chr12	7639177	7639177	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcactgccaaatgcgggaTtcttttccattgcatttcat	8	15	8	10	1	2	0	1	0	1	0	3	1	3	1	2	2	3	2	2	2	1	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:7639177T>A	ENST00000359156.4	-	10	2578	c.2376A>T	c.(2374-2376)gaA>gaT	p.E792D	CD163_ENST00000432237.2_Missense_Mutation_p.E792D|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.E825D|CD163_ENST00000541972.1_Missense_Mutation_p.E780D	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	792	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AAATGCGGGATTCTTTTCCAT	0.512																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2374-2376)gaA>gaT		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							152	152	152					12																	7639177		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639177T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2376A>T	12.37:g.7639177T>A	ENSP00000352071:p.Glu792Asp					CD163_uc001qta.3_Missense_Mutation_p.E792D|CD163_uc009zfw.2_Missense_Mutation_p.E825D	p.E792D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			9	2504	-			792			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2376A>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751923	0.69533	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.54	0.613	0.17597	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.81927	0.4926	H	0.96489	3.83	0.24479	N	0.994357	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.72043	-0.4409	10	0.87932	D	0	.	8.0517	0.30581	0.0:0.3716:0.0:0.6283	.	825;792;792	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	D	792;780;825;792	ENSP00000352071:E792D;ENSP00000444071:E780D;ENSP00000379863:E825D;ENSP00000403885:E792D	ENSP00000352071:E792D	E	-	3	2	CD163	7530444	0.000000	0.05858	0.623000	0.29173	0.902000	0.53008	-0.321000	0.08018	0.147000	0.19030	0.528000	0.53228	GAA		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7639177	T	A	7639177	3	1	277	1	0	0	0	0	1	0	0	0	2967	1490	52	5	1122	5	CD163	12	7639177	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	7237005	7639177	126212718	43	19867											
HOXC9	3225	broad.mit.edu	37	chr12	54396220	54396220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttggccctccaggcaaccCcgtggccaactggattcacg	7	8	11	15	2	1	0	1	0	0	0	2	1	2	1	5	4	2	2	5	4	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:54396220C>T	ENST00000303450.4	+	2	615	c.545C>T	c.(544-546)cCc>cTc	p.P182L	HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Missense_Mutation_p.P182L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	182					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCAGGCAACCCCGTGGCCAAC	0.577																																						uc001seq.3																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(544-546)cCc>cTc		Homo sapiens homeobox C9 (HOXC9), mRNA.							70	76	74					12																	54396220		2203	4300	6503	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396220C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.545C>T	12.37:g.54396220C>T	ENSP00000302836:p.Pro182Leu						p.P182L	NM_006897	NP_008828	P31274	HXC9_HUMAN			1	641	+			182					B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.545C>T	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879951	0.72294	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95377	-3.69;-3.69	3.99	3.99	0.46301	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.97362	0.9137	M	0.90198	3.095	0.80722	D	1	P	0.50943	0.94	P	0.55161	0.77	D	0.98350	1.0543	10	0.87932	D	0	.	15.3675	0.74535	0.0:1.0:0.0:0.0	.	182	P31274	HXC9_HUMAN	L	182	ENSP00000423861:P182L;ENSP00000302836:P182L	ENSP00000302836:P182L	P	+	2	0	HOXC9	52682487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.524000	0.81866	2.244000	0.73946	0.561000	0.74099	CCC		0.577	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			T	54396220	C	T	54396220	3	4	277	1	0	0	0	0	1	0	0	0	7317	623	22	3	551	3	HOXC9	12	54396220	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	46757043	54396220	79455675	44	19868											
LRP1	4035	broad.mit.edu	37	chr12	57581220	57581220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaccacccacgggccttcGttttggacgagtgccagaag	9	8	12	12	3	0	2	0	1	0	1	1	4	0	3	4	2	1	1	4	2	1	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:57581220G>A	ENST00000243077.3	+	42	7478	c.7012G>A	c.(7012-7014)Gtt>Att	p.V2338I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2338					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGGGCCTTCGTTTTGGACGA	0.632																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7012-7014)Gtt>Att		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						47	41	43					12																	57581220		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581220G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7012G>A	12.37:g.57581220G>A	ENSP00000243077:p.Val2338Ile						p.V2338I	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7478	+			2338					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7012G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703980	0.48412	.	.	ENSG00000123384	ENST00000243077	D	0.91792	-2.91	4.54	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.088817	0.43579	D	0.000550	D	0.92909	0.7744	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	D	0.93358	0.6724	10	0.54805	T	0.06	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	2338	Q07954	LRP1_HUMAN	I	2338	ENSP00000243077:V2338I	ENSP00000243077:V2338I	V	+	1	0	LRP1	55867487	1.000000	0.71417	0.984000	0.44739	0.217000	0.24651	9.566000	0.98157	2.514000	0.84764	0.655000	0.94253	GTT		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57581220	G	A	57581220	3	1	277	1	0	0	0	0	1	0	0	0	8951	1145	40	1	7178	1	LRP1	12	57581220	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	3185000	57581220	76270675	45	19869											
TRHDE	29953	broad.mit.edu	37	chr12	72666636	72666636	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagactcagtgggagtgcgAccccgcaccacggagcgcca	9	3	14	15	4	1	1	1	0	0	1	1	4	1	3	4	2	2	2	4	2	0	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:72666636A>G	ENST00000261180.4	+	1	174	c.78A>G	c.(76-78)cgA>cgG	p.R26R	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	26					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGGAGTGCGACCCCGCACCA	0.687																																						uc010stv.2																			0											c.(73-75)gTc>gCc		Homo sapiens uncharacterized LOC283392 (LOC283392), transcript variant 2, non-coding RNA.							18	14	15					12																	72666636		2193	4285	6478	SO:0001819	synonymous_variant	283392							g.chr12:72666636A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.78A>G	12.37:g.72666636A>G						TRHDE_uc001sxa.3_Silent_p.R26R|LOC283392_uc021rat.1_5'Flank	p.V25A							0	654	-								A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.74T>C	CCDS9004.1																																																																																				0.687	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		G	72666636	A	G	72666636	2	3	277	1	0	0	0	0	0	0	0	1	16476	262	10	4		4	TRHDE	12	72666636	Silent	SNP	A	TCGA-76-6661-01B-11D-1845-08	15085416	72666636	61185259	46	19870											
SBNO1	55206	broad.mit.edu	37	chr12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgcatcttcacgtttgtgCcactgacagatgctagaaca	10	12	8	11	1	3	3	1	1	2	2	3	3	3	3	1	0	4	3	1	0	2	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:123782584C>T	ENST00000602398.1	-	31	4107	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000420886.2_Missense_Mutation_p.G1327D			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428																																						uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3979-3981)gGc>gAc		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							215	186	196					12																	123782584		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782584C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3980G>A	12.37:g.123782584C>T	ENSP00000473665:p.Gly1327Asp					SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.G1326D|SBNO1_uc010taq.2_Missense_Mutation_p.G278D	p.G1327D	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	29	3980	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1327					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3980G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955457	0.92726	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.81739	-1.53;-1.53	5.63	5.63	0.86233	.	0.057330	0.64402	D	0.000001	D	0.89382	0.6699	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.85568	0.1232	10	0.23302	T	0.38	-3.4964	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1327;1326	A3KN83;A3KN83-2	SBNO1_HUMAN;.	D	1327;1326	ENSP00000387361:G1327D;ENSP00000267176:G1326D	ENSP00000267176:G1326D	G	-	2	0	SBNO1	122348537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GGC		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		T	123782584	C	T	123782584	3	4	277	1	0	0	0	0	1	0	0	0	13862	739	26	3	209	3	SBNO1	12	123782584	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	51115948	123782584	10069311	47	19871											
MTHFD1	4522	broad.mit.edu	37	chr14	64882182	64882182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacactgaagaagtgatcaAtgctattgcacccgagaagg	15	8	10	8	1	1	4	1	2	0	2	1	5	1	4	1	1	3	2	1	1	6	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:64882182A>G	ENST00000545908.1	+	5	744	c.515A>G	c.(514-516)aAt>aGt	p.N172S	MTHFD1_ENST00000216605.8_Missense_Mutation_p.N116S			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	116	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GAAGTGATCAATGCTATTGCA	0.383																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(346-348)aAt>aGt		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						229	213	219					14																	64882182		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64882182A>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.515A>G	14.37:g.64882182A>G	ENSP00000438588:p.Asn172Ser					MTHFD1_uc010aqe.2_Missense_Mutation_p.N152S|MTHFD1_uc010aqf.3_Missense_Mutation_p.N172S	p.N116S	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	4	734	+			116			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.347A>G		.	.	.	.	.	.	.	.	.	.	A	11.51	1.661491	0.29515	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.21734	2.78;2.79;2.79;1.99	4.96	4.96	0.65561	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	L	0.53671	1.685	0.80722	D	1	B;B;P	0.41597	0.229;0.087;0.756	B;B;B	0.37601	0.028;0.038;0.254	T	0.03630	-1.1018	10	0.23302	T	0.38	-21.525	14.9498	0.71064	1.0:0.0:0.0:0.0	.	172;116;116	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	S	172;116;172;96	ENSP00000438588:N172S;ENSP00000450560:N116S;ENSP00000216605:N172S;ENSP00000451309:N96S	ENSP00000216605:N116S	N	+	2	0	MTHFD1	63951935	1.000000	0.71417	0.992000	0.48379	0.144000	0.21451	8.842000	0.92136	1.994000	0.58287	0.374000	0.22700	AAT		0.383	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			G	64882182	A	G	64882182	3	3	277	1	0	0	0	0	1	0	0	0	9927	101	4	4	365	4	MTHFD1	14	64882182	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		64882182	42467358	48	19872											
CCDC88C	440193	broad.mit.edu	37	chr14	91770270	91770270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggttctgcagcagcGtgtactgcgcggtgagcgct	4	11	17	9	4	1	1	0	1	1	0	1	1	1	1	0	3	6	5	0	3	1	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:91770270G>A	ENST00000389857.6	-	20	3496	c.3410C>T	c.(3409-3411)aCg>aTg	p.T1137M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1137					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGCAGCGTGTACTGCGC	0.657																																						uc010aty.3																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3409-3411)aCg>aTg		Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.							69	76	74					14																	91770270		2152	4251	6403	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770270G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3410C>T	14.37:g.91770270G>A	ENSP00000374507:p.Thr1137Met						p.T1137M	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			19	3564	-		all_cancers(154;0.0468)	1137					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3410C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957995	0.53400	.	.	ENSG00000015133	ENST00000389857	T	0.15017	2.46	5.38	5.38	0.77491	.	0.265056	0.26428	U	0.024439	T	0.31389	0.0795	M	0.68952	2.095	0.80722	D	1	P	0.38535	0.635	P	0.44732	0.459	T	0.04281	-1.0963	10	0.87932	D	0	-2.9846	19.4757	0.94987	0.0:0.0:1.0:0.0	.	1137	Q9P219	DAPLE_HUMAN	M	1137	ENSP00000374507:T1137M	ENSP00000374507:T1137M	T	-	2	0	CCDC88C	90840023	0.997000	0.39634	0.080000	0.20451	0.136000	0.21042	7.477000	0.81069	2.669000	0.90835	0.561000	0.74099	ACG		0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		A	91770270	G	A	91770270	3	1	277	1	0	0	0	0	1	0	0	0	2865	1145	40	1	2720	1	CCDC88C	14	91770270	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	26888088	91770270	15579270	49	19873											
ATF7IP2	80063	broad.mit.edu	37	chr16	10527480	10527480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaatatttgtgtaagtttgGaaaggcaaacagcattcctg	15	12	9	5	0	0	0	0	0	0	0	1	1	1	1	1	2	2	4	1	2	6	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:10527480G>C	ENST00000396560.2	+	4	1161	c.934G>C	c.(934-936)Gaa>Caa	p.E312Q	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.E312Q|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.E312Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.E312Q|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TGTAAGTTTGGAAAGGCAAAC	0.328																																						uc002czw.3																			0				large_intestine(3)	3						c.(934-936)Gaa>Caa		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.							57	59	58					16																	10527480		2197	4299	6496	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10527480G>C	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.934G>C	16.37:g.10527480G>C	ENSP00000379808:p.Glu312Gln					ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.E312Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.E312Q	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			2	1093	+			312					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.934G>C	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523623	0.27299	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.02	4.06	0.47325	.	0.094580	0.46442	D	0.000283	T	0.34483	0.0899	L	0.31752	0.955	0.23923	N	0.996455	P;B	0.40360	0.714;0.222	B;B	0.36766	0.232;0.067	T	0.21109	-1.0255	10	0.51188	T	0.08	-20.0263	11.9378	0.52884	0.0:0.1751:0.8249:0.0	.	312;312	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	312	ENSP00000379807:E312Q;ENSP00000379808:E312Q;ENSP00000440791:E312Q;ENSP00000348799:E312Q;ENSP00000322811:E312Q	ENSP00000322811:E312Q	E	+	1	0	ATF7IP2	10434981	1.000000	0.71417	0.996000	0.52242	0.593000	0.36681	2.282000	0.43461	1.253000	0.44018	-0.155000	0.13514	GAA		0.328	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		C	10527480	G	C	10527480	3	2	277	1	0	0	0	0	1	0	0	0	1088	1175	41	5	940	5	ATF7IP2	16	10527480	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		10527480	79827273	50	19874											
VWA3A	146177	broad.mit.edu	37	chr16	22137566	22137566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatatccagcactccctgCggctgctgctggaggagcag	7	9	12	13	1	1	0	1	0	0	0	3	2	3	2	2	3	5	5	2	3	1	2	rs370995399		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:22137566C>T	ENST00000389398.5	+	17	1696	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	534	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCACTCCCTGCGGCTGCTGCT	0.512																																						uc010vbq.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1600-1602)Cgg>Tgg		Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.		C	TRP/ARG	1,3891		0,1,1945	116	116	116		1600	1.2	1	16		116	0,8292		0,0,4146	no	missense	VWA3A	NM_173615.3	101	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	probably-damaging	534/1185	22137566	1,12183	1946	4146	6092	SO:0001583	missense	146177					extracellular region		g.chr16:22137566C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1600C>T	16.37:g.22137566C>T	ENSP00000374049:p.Arg534Trp					VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R542W	p.R534W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	16	1696	+			534			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1600C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623912	0.66901	2.57E-4	0.0	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.07688	3.17	4.97	1.21	0.21127	.	0.000000	0.64402	D	0.000002	T	0.26376	0.0644	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.04360	-1.0957	10	0.72032	D	0.01	.	13.5344	0.61639	0.5223:0.4777:0.0:0.0	.	534;158	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	W	534;157	ENSP00000374049:R534W	ENSP00000299840:R157W	R	+	1	2	VWA3A	22045067	0.999000	0.42202	0.988000	0.46212	0.998000	0.95712	0.448000	0.21726	0.427000	0.26145	0.650000	0.86243	CGG		0.512	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			T	22137566	C	T	22137566	3	4	277	1	0	0	0	0	1	0	0	0	17237	759	27	1	1666	1	VWA3A	16	22137566	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	11610086	22137566	68217187	51	19875											
PLCG2	5336	broad.mit.edu	37	chr16	81942086	81942086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggtggagaagaggacGagtgccgagaagttgctgca	14	5	17	5	2	0	4	0	0	0	4	0	8	0	5	1	3	3	3	1	3	4	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:81942086G>A	ENST00000359376.3	+	17	1837	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	541	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		T -> A (in dbSNP:rs11548657).		B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1621-1623)acG>acA		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							77	80	79					16																	81942086		2004	4172	6176	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942086G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1623G>A	16.37:g.81942086G>A						PLCG2_uc010chg.1_Silent_p.T541T	p.T541T	NM_002661	NP_002652	P16885	PLCG2_HUMAN			16	1801	+			541		T -> A (in dbSNP:rs11548657).	SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1623G>A	CCDS42204.1																																																																																				0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			A	81942086	G	A	81942086	2	1	277	1	0	0	0	0	0	0	0	1	12036	1045	37	2		2	PLCG2	16	81942086	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	59804520	81942086	8412667	52	19876											
UBTF	7343	broad.mit.edu	37	chr17	42284949	42284949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcctcatcctcttcaTcatcctcctcggactccttg	5	14	4	18	2	5	0	4	0	1	0	11	1	10	1	5	1	0	0	5	1	0	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr17:42284949T>C	ENST00000302904.4	-	20	2534	c.2042A>G	c.(2041-2043)gAt>gGt	p.D681G	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_Missense_Mutation_p.D681G|UBTF_ENST00000526094.1_Missense_Mutation_p.D644G|UBTF_ENST00000533177.1_Missense_Mutation_p.D644G|UBTF_ENST00000527034.1_Missense_Mutation_p.M643V|UBTF_ENST00000529383.1_Missense_Mutation_p.D681G|UBTF_ENST00000343638.5_Missense_Mutation_p.D644G|UBTF_ENST00000393606.3_Missense_Mutation_p.D644G			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	681	Asp/Glu/Ser-rich (acidic).				chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		atcctcttcatcatcctcctc	0.592																																						uc010czs.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2041-2043)gAt>gGt		Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.							161	107	125					17																	42284949		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42284949T>C	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.2042A>G	17.37:g.42284949T>C	ENSP00000302640:p.Asp681Gly					UBTF_uc002igc.3_Missense_Mutation_p.D644G|UBTF_uc002igd.3_Missense_Mutation_p.D644G|UBTF_uc010czt.3_Missense_Mutation_p.D681G	p.D681G	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	19	2338	-		Breast(137;0.00765)|Prostate(33;0.0181)	681			Asp/Glu/Ser-rich (acidic).		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.2042A>G	CCDS11480.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.69|10.69	1.422368|1.422368	0.25639|0.25639	.|.	.|.	ENSG00000108312|ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383|ENST00000527034	D;D;D;D;D;D;D|D	0.98135|0.98060	-4.74;-4.01;-4.74;-4.01;-4.74;-4.74;-4.01|-4.69	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	1.069620|.	0.07317|.	N|.	0.876871|.	D|D	0.95137|0.95137	0.8424|0.8424	N|N	0.14661|0.14661	0.345|0.345	0.38882|0.38882	D|D	0.956934|0.956934	P;B|.	0.37330|.	0.59;0.155|.	B;B|.	0.35607|.	0.206;0.029|.	D|D	0.95259|0.95259	0.8367|0.8367	10|7	0.44086|0.34782	T|T	0.13|0.22	-6.2563|-6.2563	14.6214|14.6214	0.68588|0.68588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	644;681|.	P17480-2;P17480|.	.;UBF1_HUMAN|.	G|V	644;681;644;681;644;644;681|643	ENSP00000345297:D644G;ENSP00000302640:D681G;ENSP00000437180:D644G;ENSP00000390669:D681G;ENSP00000377231:D644G;ENSP00000432925:D644G;ENSP00000435708:D681G|ENSP00000431539:M643V	ENSP00000302640:D681G|ENSP00000431539:M643V	D|M	-|-	2|1	0|0	UBTF|UBTF	39640475|39640475	1.000000|1.000000	0.71417|0.71417	0.505000|0.505000	0.27651|0.27651	0.989000|0.989000	0.77384|0.77384	6.568000|6.568000	0.73987|0.73987	2.132000|2.132000	0.65825|0.65825	0.402000|0.402000	0.26972|0.26972	GAT|ATG		0.592	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		C	42284949	T	C	42284949	3	2	277	1	0	0	0	0	1	0	0	0	16906	1435	50	4	260	4	UBTF	17	42284949	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08		42284949	38910261	53	19877											
DSC2	1824	broad.mit.edu	37	chr18	28671015	28671015	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaaagtggaaaaggAcccaaggagttttctagcat	16	8	12	5	0	1	1	0	1	1	0	1	5	1	5	1	4	1	2	1	4	7	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:28671015A>C	ENST00000280904.6	-	4	893	c.450T>G	c.(448-450)ggT>ggG	p.G150G	DSC2_ENST00000251081.6_Silent_p.G150G	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	150	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTGGAAAAGGACCCAAGGAGT	0.408																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(448-450)ggT>ggG		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							120	110	114					18																	28671015		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28671015A>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.450T>G	18.37:g.28671015A>C						DSC2_uc002kwk.4_Silent_p.G150G	p.G150G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	904	-			150			Cadherin 1.			Silent	SNP	ENST00000280904.6	37	c.450T>G	CCDS11892.1																																																																																				0.408	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		C	28671015	A	C	28671015	2	2	277	1	0	0	0	0	0	0	0	1	4766	262	10	5		5	DSC2	18	28671015	Silent	SNP	A	TCGA-76-6661-01B-11D-1845-08		28671015	49406233	54	19878											
DSG3	1830	broad.mit.edu	37	chr18	29046498	29046498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgttcttacagaatacAcgggtaaaacttctacaggc	14	11	7	9	1	2	1	0	0	2	1	2	1	2	1	0	2	4	2	0	2	6	7			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:29046498A>T	ENST00000257189.4	+	11	1500	c.1417A>T	c.(1417-1419)Acg>Tcg	p.T473S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TACAGAATACACGGGTAAAAC	0.358																																						uc002kws.3																			0		p.T473T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1417-1419)Acg>Tcg		Homo sapiens desmoglein 3 (DSG3), mRNA.							101	98	99					18																	29046498		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046498A>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1417A>T	18.37:g.29046498A>T	ENSP00000257189:p.Thr473Ser						p.T473S	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		10	1526	+			473			Cadherin 4.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1417A>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	0.044	-1.271582	0.01421	.	.	ENSG00000134757	ENST00000257189	T	0.60424	0.19	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.141025	0.33110	N	0.005275	T	0.34279	0.0892	N	0.10916	0.065	0.32468	N	0.543142	B	0.24823	0.112	B	0.18871	0.023	T	0.41716	-0.9493	10	0.16896	T	0.51	.	10.6825	0.45823	0.7201:0.2799:0.0:0.0	.	473	P32926	DSG3_HUMAN	S	473	ENSP00000257189:T473S	ENSP00000257189:T473S	T	+	1	0	DSG3	27300496	0.522000	0.26266	0.692000	0.30179	0.092000	0.18411	2.655000	0.46707	2.285000	0.76669	0.477000	0.44152	ACG		0.358	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29046498	A	T	29046498	3	4	277	1	0	0	0	0	1	0	0	0	4778	159	6	5	1459	5	DSG3	18	29046498	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	375483	29046498	49030750	55	19879											
NEDD4L	23327	broad.mit.edu	37	chr18	55916158	55916158	+	Frame_Shift_Del	DEL	T	T	-																															acccaaaatggaatgaagaaTtttatttcagggtaagtttt																										TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:55916158delT	ENST00000400345.3	+	4	515	c.232delT	c.(232-234)tttfs	p.F78fs	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000357895.5_Frame_Shift_Del_p.F70fs|NEDD4L_ENST00000382850.4_Frame_Shift_Del_p.F78fs|NEDD4L_ENST00000256830.9_Frame_Shift_Del_p.F78fs|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000586263.1_Frame_Shift_Del_p.F70fs|NEDD4L_ENST00000356462.6_Frame_Shift_Del_p.F78fs|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000256832.7_5'UTR	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	78	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GAATGAAGAATTTTATTTCAG	0.313																																						uc002lgy.3																			0		p.E77Q(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(232-234)tttfs		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.							51	46	48					18																	55916158		1759	3949	5708	SO:0001589	frameshift_variant	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55916158delT	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.232delT	18.37:g.55916158delT	ENSP00000383199:p.Phe78fs					NEDD4L_uc002lgz.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc002lgx.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhf.3_5'UTR|NEDD4L_uc010dpl.2_Non-coding_Transcript|NEDD4L_uc002lhg.3_5'UTR|NEDD4L_uc002lhh.2_5'UTR	p.F78fs	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			3	515	+			78			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Frame_Shift_Del	DEL	ENST00000400345.3	37	c.232delT	CCDS45872.1																																																																																				0.313	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			-	55916158	T	-	55916158	7	5	277	1	0	1	0	1	0	0	0	0	10311	1493	52	0	274	0	NEDD4L	18	55916158	Frame_Shift_Del	DEL	T	TCGA-76-6661-01B-11D-1845-08	26869660	55916158	22161090	56	19880											
CREB3L3	84699	broad.mit.edu	37	chr19	4171163	4171163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagcccagacaggcacCtgtgtcgcagtgagtcctgg	9	7	13	12	1	1	2	1	1	0	1	3	2	2	2	3	2	1	2	3	2	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:4171163C>T	ENST00000078445.2	+	8	1113	c.966C>T	c.(964-966)acC>acT	p.T322T	CREB3L3_ENST00000595923.1_Silent_p.T321T|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Silent_p.T320T|CREB3L3_ENST00000602147.1_Silent_p.L287L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACAGGCACCTGTGTCGCAG	0.602																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(964-966)acC>acT		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.							68	63	65					19																	4171163		2203	4300	6503	SO:0001819	synonymous_variant	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171163C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.966C>T	19.37:g.4171163C>T						CREB3L3_uc002lzm.3_Silent_p.T312T|CREB3L3_uc010xib.2_Silent_p.T311T|CREB3L3_uc010xic.2_Silent_p.L278L	p.T322T	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1082	+			322					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	c.966C>T	CCDS12121.1																																																																																				0.602	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		T	4171163	C	T	4171163	2	4	277	1	0	0	0	0	0	0	0	1	3858	668	24	3		3	CREB3L3	19	4171163	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		4171163	54957820	57	19881											
MYO1F	4542	broad.mit.edu	37	chr19	8616651	8616651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaagtcgcttctgtcGtccgtgccgtccacctggta	6	11	9	15	4	2	0	1	0	1	0	6	0	4	0	5	1	1	2	5	1	2	2	rs201115094		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:8616651G>A	ENST00000338257.8	-	8	1011	c.744C>T	c.(742-744)gaC>gaT	p.D248D	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	248	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D248D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCTTCTGTCGTCCGTGCCGT	0.582													G|||	1	0.000199681	0	0	5008	,	,		17447	0		0	False		,,,				2504	0.001					uc002mkg.3																			1	Substitution - coding silent(1)	p.D248D(2)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(742-744)gaC>gaT		Homo sapiens myosin IF (MYO1F), mRNA.		G		0,4126		0,0,2063	140	143	142		744	-0.7	1	19		142	5,8393		0,5,4194	no	coding-synonymous	MYO1F	NM_012335.3		0,5,6257	AA,AG,GG		0.0595,0.0,0.0399		248/1099	8616651	5,12519	2063	4199	6262	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8616651G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.744C>T	19.37:g.8616651G>A						MYO1F_uc010xkf.2_3'UTR	p.D248D	NM_012335	NP_036467	O00160	MYO1F_HUMAN			7	882	-			248			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.744C>T	CCDS42494.1																																																																																				0.582	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8616651	G	A	8616651	2	1	277	1	0	0	0	0	0	0	0	1	10073	1136	40	1		1	MYO1F	19	8616651	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	4445488	8616651	50512332	58	19882											
JAK3	3718	broad.mit.edu	37	chr19	17937673	17937673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgctgaatgatggcCggtcctgtgggctaggggcc	5	7	18	11	2	0	2	0	2	0	0	1	2	1	2	4	6	0	2	4	6	2	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:17937673C>T	ENST00000527670.1	-	23	3283	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q	JAK3_ENST00000458235.1_Missense_Mutation_p.R1085Q			P52333	JAK3_HUMAN	Janus kinase 3	1085	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAATGATGGCCGGTCCTGTGG	0.632		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	uc002nhn.4		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(3253-3255)cGg>cAg		Homo sapiens Janus kinase 3 (JAK3), mRNA.							69	67	68					19																	17937673		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937673C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3254G>A	19.37:g.17937673C>T	ENSP00000432511:p.Arg1085Gln					JAK3_uc010ebh.3_Intron	p.R1085Q	NM_000215	NP_000206	P52333	JAK3_HUMAN			23	3354	-			1085			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.3254G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	c	19.75	3.885091	0.72410	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	D;D	0.87729	-2.29;-2.29	3.61	3.61	0.41365	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94686	0.8286	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	P	0.61201	0.885	D	0.95948	0.8952	9	0.87932	D	0	-5.4329	12.7889	0.57522	0.0:1.0:0.0:0.0	.	1085	P52333	JAK3_HUMAN	Q	1085	ENSP00000391676:R1085Q;ENSP00000432511:R1085Q	ENSP00000391676:R1085Q	R	-	2	0	JAK3	17798673	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	5.065000	0.64344	1.877000	0.54381	0.306000	0.20318	CGG		0.632	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17937673	C	T	17937673	3	4	277	1	0	0	0	0	1	0	0	0	7939	652	23	2	124	2	JAK3	19	17937673	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	9321022	17937673	41191310	59	19883											
PAK4	10298	broad.mit.edu	37	chr19	39665625	39665625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggagatgtacaacagcTacctggtgggggacgagctc	9	8	16	8	1	0	1	0	0	0	1	1	4	0	2	1	5	5	3	1	5	3	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:39665625T>C	ENST00000593690.1	+	7	1580	c.1153T>C	c.(1153-1155)Tac>Cac	p.Y385H	PAK4_ENST00000321944.4_Missense_Mutation_p.Y295H|PAK4_ENST00000599386.1_Missense_Mutation_p.Y232H|PAK4_ENST00000358301.3_Missense_Mutation_p.Y385H|PAK4_ENST00000599470.1_Missense_Mutation_p.Y232H|PAK4_ENST00000435673.2_Missense_Mutation_p.Y385H|PAK4_ENST00000360442.3_Missense_Mutation_p.Y385H	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTACAACAGCTACCTGGTGGG	0.617																																						uc002okj.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(1153-1155)Tac>Cac		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.							180	162	168					19																	39665625		2203	4300	6503	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39665625T>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1153T>C	19.37:g.39665625T>C	ENSP00000469413:p.Tyr385His					PAK4_uc002okl.1_Missense_Mutation_p.Y385H|PAK4_uc002okn.1_Missense_Mutation_p.Y385H|PAK4_uc002okm.1_Missense_Mutation_p.Y232H|PAK4_uc002oko.1_Missense_Mutation_p.Y232H|PAK4_uc002okp.1_Missense_Mutation_p.Y295H	p.Y385H	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		6	1614	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		385			Protein kinase.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.1153T>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054907	0.55325	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.14640	2.49;2.49;2.49	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.29556	0.0737	L	0.52206	1.635	0.80722	D	1	D;B;P	0.89917	1.0;0.442;0.742	D;B;P	0.87578	0.998;0.205;0.45	T	0.01993	-1.1233	10	0.87932	D	0	.	11.3391	0.49523	0.0:0.0:0.0:1.0	.	295;232;385	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	H	385;232;189;141;385;385	ENSP00000351049:Y385H;ENSP00000392753:Y385H;ENSP00000353625:Y385H	ENSP00000326864:Y232H	Y	+	1	0	PAK4	44357465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.577000	0.82486	1.777000	0.52277	0.454000	0.30748	TAC		0.617	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			C	39665625	T	C	39665625	3	2	277	1	0	0	0	0	1	0	0	0	11403	1522	53	4	1167	4	PAK4	19	39665625	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	21727952	39665625	19463358	60	19884											
ZNF8	7554	broad.mit.edu	37	chr19	58805490	58805490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcgatctgaaagccaaGcatcacgcaaggaagagggc	14	4	12	11	2	2	2	1	1	1	1	3	4	2	3	2	2	3	2	2	2	4	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:58805490G>A	ENST00000196548.5	+	4	447	c.316G>A	c.(316-318)Gca>Aca	p.A106T	ZNF8_ENST00000608843.1_Missense_Mutation_p.A106T|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	106					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGAAAGCCAAGCATCACGCAA	0.542																																						uc002qry.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(316-318)Gca>Aca		Homo sapiens zinc finger protein 8 (ZNF8), mRNA.							62	54	56					19																	58805490		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58805490G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.316G>A	19.37:g.58805490G>A	ENSP00000196548:p.Ala106Thr					ZNF8_uc002qrz.3_Non-coding_Transcript	p.A106T	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	3	446	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	106					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.316G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	9.756	1.168746	0.21621	.	.	ENSG00000083842	ENST00000196548	T	0.05580	3.42	4.58	-1.86	0.07760	.	1.818140	0.02740	N	0.116150	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39941	-0.9589	10	0.15066	T	0.55	0.8418	4.9159	0.13846	0.4156:0.1494:0.4351:0.0	.	106	P17098	ZNF8_HUMAN	T	106	ENSP00000196548:A106T	ENSP00000196548:A106T	A	+	1	0	ZNF8	63497302	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.023000	0.13533	-0.309000	0.08779	0.650000	0.86243	GCA		0.542	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		A	58805490	G	A	58805490	3	1	277	1	0	0	0	0	1	0	0	0	18164	971	34	3	330	3	ZNF8	19	58805490	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	19139865	58805490	323493	61	19885											
BPI	671	broad.mit.edu	37	chr20	36964027	36964027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaggcttccctctccCgacgccggccagagtccagc	9	5	10	17	3	1	2	0	0	1	2	4	3	3	2	5	2	1	1	5	2	1	1	rs368496977		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:36964027C>T	ENST00000262865.4	+	14	1465	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	459					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557																																						uc002xib.2																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(1375-1377)cCg>cTg		Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.							94	93	94					20																	36964027		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36964027C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1376C>T	20.37:g.36964027C>T	ENSP00000262865:p.Pro459Leu						p.P459L	NM_001725	NP_001716	P17213	BPI_HUMAN			13	1438	+		Myeloproliferative disorder(115;0.00878)	459					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.1376C>T	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.588769|3.588769	0.66105|0.66105	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.30714|.	1.52|.	3.65|3.65	3.65|3.65	0.41850|0.41850	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|.	0.77678|.	0.4166|.	M|M	0.88450|0.88450	2.955|2.955	0.52501|0.52501	D|D	0.999954|0.999954	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.80681|.	-0.1274|.	10|.	0.87932|.	D|.	0|.	-27.6185|-27.6185	11.1525|11.1525	0.48466|0.48466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	459|.	P17213|.	BPI_HUMAN|.	L|X	459|285	ENSP00000262865:P459L|.	ENSP00000262865:P459L|.	P|R	+|+	2|1	0|2	BPI|BPI	36397441|36397441	0.987000|0.987000	0.35691|0.35691	0.932000|0.932000	0.37286|0.37286	0.090000|0.090000	0.18270|0.18270	3.819000|3.819000	0.55686|0.55686	2.332000|2.332000	0.79248|0.79248	0.455000|0.455000	0.32223|0.32223	CCG|CGA		0.557	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		T	36964027	C	T	36964027	3	4	277	1	0	0	0	0	1	0	0	0	1490	652	23	2	1430	2	BPI	20	36964027	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		36964027	26061493	62	19886											
TTPAL	79183	broad.mit.edu	37	chr20	43118147	43118147	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgtgacgactccttgCgagctgtgaagtcacagctg	9	9	12	11	2	1	2	1	2	0	0	2	4	2	2	1	0	3	2	1	0	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:43118147C>T	ENST00000372904.3	+	6	1137	c.994C>T	c.(994-996)Cga>Tga	p.R332*	TTPAL_ENST00000372906.2_3'UTR|TTPAL_ENST00000262605.4_Nonsense_Mutation_p.R332*	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	332						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CGACTCCTTGCGAGCTGTGAA	0.547																																						uc002xmc.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.(994-996)Cga>Tga		Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.							55	52	53					20																	43118147		2203	4300	6503	SO:0001587	stop_gained	79183					intracellular	transporter activity	g.chr20:43118147C>T	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.994C>T	20.37:g.43118147C>T	ENSP00000361995:p.Arg332*					TTPAL_uc002xmd.1_Nonsense_Mutation_p.R332*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R145*	p.R332*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			5	1118	+			332					E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Nonsense_Mutation	SNP	ENST00000372904.3	37	c.994C>T	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390205	0.82902	.	.	ENSG00000124120	ENST00000262605;ENST00000372904	.	.	.	6.17	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0198	15.8222	0.78662	0.249:0.751:0.0:0.0	.	.	.	.	X	332	.	ENSP00000262605:R332X	R	+	1	2	TTPAL	42551561	1.000000	0.71417	0.961000	0.40146	0.306000	0.27790	1.718000	0.38001	0.912000	0.36772	0.655000	0.94253	CGA		0.547	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		T	43118147	C	T	43118147	4	4	277	1	0	0	0	0	0	1	0	0	16734	760	27	1	1008	1	TTPAL	20	43118147	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	6154120	43118147	19907373	63	19887											
RIPK4	54101	broad.mit.edu	37	chr21	43162031	43162031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccgccaggtgcagcAggctggcaccgctgtccagt	6	6	12	17	2	0	0	0	0	0	0	2	0	2	0	6	3	2	5	6	3	0	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr21:43162031A>T	ENST00000352483.2	-	9	1530	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.L378Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.L441Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.L378Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	489					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGTGCAGCAGGCTGGCACC	0.637																																						uc002yzn.1																			0		p.L441L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1321-1323)cTg>cAg		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							106	108	107					21																	43162031		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43162031A>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1466T>A	21.37:g.43162031A>T	ENSP00000330161:p.Leu489Gln						p.L441Q	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1370	-			441					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1322T>A		.	.	.	.	.	.	.	.	.	.	A	18.28	3.589411	0.66105	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.02	5.02	0.67125	.	0.000000	0.52532	D	0.000077	T	0.76414	0.3984	M	0.70275	2.135	0.52099	D	0.999948	D	0.76494	0.999	D	0.68943	0.961	T	0.78570	-0.2153	10	0.54805	T	0.06	-24.6346	13.9366	0.64029	1.0:0.0:0.0:0.0	.	441	P57078-2	.	Q	441;489;378;378;180	ENSP00000332454:L441Q;ENSP00000330161:L489Q;ENSP00000441754:L378Q;ENSP00000442901:L378Q	ENSP00000330975:L180Q	L	-	2	0	RIPK4	42035100	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.307000	0.78920	1.875000	0.54330	0.533000	0.62120	CTG		0.637	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		T	43162031	A	T	43162031	3	4	277	1	0	0	0	0	1	0	0	0	13383	188	7	5	1036	5	RIPK4	21	43162031	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		43162031	4967864	64	19888											
MAGEC3	139081	broad.mit.edu	37	chrX	140983301	140983301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacaggaagatggccGccgagggctgaccgaggcgt	10	3	16	12	4	0	3	0	1	0	2	0	6	0	4	4	4	0	1	4	4	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:140983301G>A	ENST00000298296.1	+	6	1079	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	360	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATGGCCGCCGAGGGCTG	0.607																																						uc011mwp.2																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1078-1080)cGc>cAc		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.							33	35	35					X																	140983301		2201	4297	6498	SO:0001583	missense	139081							g.chrX:140983301G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1079G>A	X.37:g.140983301G>A	ENSP00000298296:p.Arg360His					MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	p.R360H	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			5	1079	+	Acute lymphoblastic leukemia(192;6.56e-05)		360			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1079G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	1.519	-0.547521	0.04024	.	.	ENSG00000165509	ENST00000298296	T	0.03496	3.91	0.614	-1.23	0.09465	.	.	.	.	.	T	0.01940	0.0061	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	8	0.15066	T	0.55	.	.	.	.	.	360	Q8TD91	MAGC3_HUMAN	H	360	ENSP00000298296:R360H	ENSP00000298296:R360H	R	+	2	0	MAGEC3	140810967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.299000	0.02754	-1.481000	0.01863	-1.508000	0.00951	CGC		0.607	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		A	140983301	G	A	140983301	3	1	277	1	0	0	0	0	1	0	0	0	9182	1087	38	1	1101	1	MAGEC3	23	140983301	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		140983301	14287259	65	19889											
ARHGAP4	393	broad.mit.edu	37	chrX	153175809	153175809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgggcccgaagcacaCggccaggttgtaggggtcca	8	5	16	12	3	0	0	0	0	0	0	1	1	1	0	3	5	2	3	3	5	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:153175809C>T	ENST00000350060.5	-	17	2013	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.V698M|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.V480M|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.V635M|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.V637M	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	658	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGAAGCACACGGCCAGGTTG	0.677																																						uc004fjk.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1972-1974)Gtg>Atg		Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.							21	22	21					X																	153175809		2202	4295	6497	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153175809C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1972G>A	X.37:g.153175809C>T	ENSP00000203786:p.Val658Met					ARHGAP4_uc011mzf.2_Missense_Mutation_p.V635M|ARHGAP4_uc004fjl.2_Missense_Mutation_p.V698M|ARHGAP4_uc010nup.2_Intron	p.V658M	NM_001666	NP_001657	P98171	RHG04_HUMAN			16	2030	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		658			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1972G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094020	0.76870	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	4.9	4.9	0.64082	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.444510	0.16664	N	0.204654	T	0.44767	0.1309	M	0.64997	1.995	0.43050	D	0.994659	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.97	T	0.43310	-0.9399	10	0.87932	D	0	.	16.0415	0.80687	0.0:1.0:0.0:0.0	.	698;658	Q86UY3;P98171	.;RHG04_HUMAN	M	480;698;658;637;635	ENSP00000377322:V480M;ENSP00000359045:V698M;ENSP00000203786:V658M;ENSP00000359033:V637M;ENSP00000444169:V635M	ENSP00000203786:V658M	V	-	1	0	ARHGAP4	152829003	0.636000	0.27207	0.993000	0.49108	0.955000	0.61496	1.295000	0.33377	2.036000	0.60181	0.592000	0.82586	GTG		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		T	153175809	C	T	153175809	3	4	277	1	0	0	0	0	1	0	0	0	885	536	19	1	892	1	ARHGAP4	23	153175809	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	12192508	153175809	2094751	66	19890											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966872	4966872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctctcataactgtgaCggataaggatgcggaccata	13	10	10	8	2	1	1	1	1	1	0	2	4	1	4	1	3	3	1	1	3	4	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrY:4966872C>T	ENST00000333703.4	+	5	1733	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413																																						uc004fqo.3																			2	Substitution - Missense(2)	p.T407M(1)|p.T418M(1)	prostate(2)	autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1252-1254)aCg>aTg		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4966872C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1220C>T	Y.37:g.4966872C>T	ENSP00000330552:p.Thr407Met					PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M	p.T418M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	1987	+			418			Cadherin 4.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1253C>T	CCDS14776.1																																																																																				0.413	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		T	4966872	C	T	4966872	3	4	277	1	0	0	0	0	1	0	0	0	11509	536	19	1	1295	1	PCDH11Y	24	4966872	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		4966872	54406694	67	19891											
AMY2B	280	broad.mit.edu	37	chr1	104116388	104116388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggagaaagattatgtgcGttccaagattgccgaatata	14	11	10	6	2	0	3	0	0	0	3	1	5	1	3	2	1	2	1	2	1	6	5	rs370144544		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:104116388G>A	ENST00000361355.4	+	6	1188	c.572G>A	c.(571-573)cGt>cAt	p.R191H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	191					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATTATGTGCGTTCCAAGATT	0.413																																						uc010ouo.2																			0		p.R191C(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(571-573)cGt>cAt		Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	436	420	426		572	4.7	1	1		426	0,8600		0,0,4300	no	missense	AMY2B	NM_020978.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	191/512	104116388	1,13005	2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116388G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.572G>A	1.37:g.104116388G>A	ENSP00000354610:p.Arg191His					AMY2B_uc001duq.3_Missense_Mutation_p.R191H|AMY2B_uc001dur.3_Missense_Mutation_p.R191H|AMY2B_uc001dus.1_5'Flank	p.R191H	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	15	2276	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	191					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.572G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590904	0.66219	2.27E-4	0.0	ENSG00000240038	ENST00000361355	D	0.98550	-4.99	4.74	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.051630	0.85682	D	0.000000	D	0.98024	0.9349	H	0.94886	3.595	0.80722	D	1	B	0.34264	0.446	B	0.34346	0.18	D	0.99941	1.1413	10	0.72032	D	0.01	.	17.7859	0.88538	0.0:0.0:1.0:0.0	.	191	P19961	AMY2B_HUMAN	H	191	ENSP00000354610:R191H	ENSP00000354610:R191H	R	+	2	0	AMY2B	103917911	1.000000	0.71417	0.954000	0.39281	0.573000	0.36030	7.803000	0.85983	2.204000	0.70986	0.644000	0.83932	CGT		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		A	104116388	G	A	104116388	3	1	278	1	0	0	0	0	1	0	0	0	595	1145	40	1	586	1	AMY2B	1	104116388	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		104116388	145134233	1	19892											
TCHH	7062	broad.mit.edu	37	chr1	152080354	152080354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcctccctctcctggCggagctgttcctcctcgcgg	1	12	11	17	3	1	0	0	0	1	0	7	1	5	1	5	3	1	4	5	3	0	2	rs199599922		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:152080354C>T	ENST00000368804.1	-	2	5338	c.5339G>A	c.(5338-5340)cGc>cAc	p.R1780H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1780	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTGGCGGAGCTGTTC	0.592																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5338-5340)cGc>cAc		Homo sapiens trichohyalin (TCHH), mRNA.							65	66	66					1																	152080354		1903	4116	6019	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080354C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5339G>A	1.37:g.152080354C>T	ENSP00000357794:p.Arg1780His					TCHH_uc001ezp.2_Missense_Mutation_p.R1780H	p.R1780H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5611	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1780			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5339G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069565	0.20147	.	.	ENSG00000159450	ENST00000368804	T	0.11385	2.78	4.03	-3.57	0.04612	.	.	.	.	.	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	P	0.44477	0.451	T	0.22138	-1.0225	9	0.51188	T	0.08	.	1.3741	0.02216	0.4511:0.2437:0.1213:0.1839	.	1780	Q07283	TRHY_HUMAN	H	1780	ENSP00000357794:R1780H	ENSP00000357794:R1780H	R	-	2	0	TCHH	150346978	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.302000	0.02746	-1.171000	0.02765	-1.564000	0.00881	CGC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152080354	C	T	152080354	3	4	278	1	0	0	0	0	1	0	0	0	15697	768	27	1	496	1	TCHH	1	152080354	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	47963966	152080354	97170267	2	19893											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309|rs121917743		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						uc001haq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(43-48)ctgctc>ctc		Homo sapiens renin (REN), mRNA.	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del						p.15_16LL>L	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		0	89_91	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15					Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		-	204135377	AGC	-	204135375	7	5	278	1	0	1	0	1	0	0	0	0	13224	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-76-6662-01A-11D-1845-08	52055021	204135375	45115246	3	19894											
OR2L3	391192	broad.mit.edu	37	chr1	248224733	248224733	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgtagtaactttctaCtatgcaccttttgtctacac	9	16	4	12	0	3	0	1	0	2	0	3	0	3	0	1	0	4	3	1	0	5	8	rs376926882		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:248224733C>A	ENST00000359959.3	+	1	750	c.750C>A	c.(748-750)taC>taA	p.Y250*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACTTTCTACTATGCACCTT	0.502																																						uc001idx.1																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(748-750)taC>taA		Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.							136	128	130					1																	248224733		2203	4298	6501	SO:0001587	stop_gained	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224733C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.750C>A	1.37:g.248224733C>A	ENSP00000353044:p.Tyr250*					OR2L13_uc001ids.3_Intron	p.Y250*	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	750	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		250					B9EH44	Nonsense_Mutation	SNP	ENST00000359959.3	37	c.750C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	6.615	0.481935	0.12581	.	.	ENSG00000198128	ENST00000359959	.	.	.	2.01	1.05	0.20165	.	0.000000	0.29133	U	0.013060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.1393	0.31073	0.0:0.8666:0.0:0.1334	.	.	.	.	X	250	.	ENSP00000353044:Y250X	Y	+	3	2	OR2L3	246291356	0.000000	0.05858	0.161000	0.22692	0.047000	0.14425	-1.506000	0.02271	0.181000	0.19994	0.456000	0.33151	TAC		0.502	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		A	248224733	C	A	248224733	4	1	278	1	0	0	0	0	0	1	0	0	11008	576	20	5	752	5	OR2L3	1	248224733	Nonsense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	44089358	248224733	1025888	4	19895											
GPAT2	150763	broad.mit.edu	37	chr2	96691751	96691751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcttctggcactgaCgatgtattcctgcccaagag	9	9	10	13	1	1	2	0	1	1	1	2	3	2	2	3	1	3	4	3	1	2	3	rs562806816	byFrequency	TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:96691751C>T	ENST00000434632.1	-	13	1624	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	GPAT2_ENST00000359548.4_Missense_Mutation_p.V389I|GPAT2_ENST00000377137.3_Missense_Mutation_p.V389I|GPAT2_ENST00000453542.1_Missense_Mutation_p.V318I			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	389					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCACTGACGATGTATTCC	0.612													.|||	3	0.000599042	0	0	5008	,	,		18509	0		0	False		,,,				2504	0.0031					uc002svf.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1165-1167)Gtc>Atc		Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.							26	26	26					2																	96691751		1928	4132	6060	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96691751C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1165G>A	2.37:g.96691751C>T	ENSP00000389395:p.Val389Ile					GPAT2_uc002sve.3_Missense_Mutation_p.V191I|GPAT2_uc002svd.3_Missense_Mutation_p.V202I|GPAT2_uc002svg.3_Missense_Mutation_p.V262I|GPAT2_uc010yuh.2_Missense_Mutation_p.V318I|GPAT2_uc002svh.3_Missense_Mutation_p.V389I	p.V389I	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			11	1388	-			389					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1165G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	0.093	-1.163401	0.01673	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.76448	-1.01;-1.01;-0.01;-1.02	4.7	-4.04	0.04010	.	0.890743	0.09739	N	0.762190	T	0.50803	0.1637	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.36456	-0.9747	10	0.36615	T	0.2	-30.2801	10.6516	0.45651	0.0:0.5558:0.0:0.4442	.	318;389;389;389;318	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	I	389;389;318;389	ENSP00000352547:V389I;ENSP00000389395:V389I;ENSP00000393770:V318I;ENSP00000366341:V389I	ENSP00000352547:V389I	V	-	1	0	GPAT2	96055478	0.000000	0.05858	0.077000	0.20336	0.009000	0.06853	-0.204000	0.09425	-0.397000	0.07691	-1.028000	0.02416	GTC		0.612	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		T	96691751	C	T	96691751	3	4	278	1	0	0	0	0	1	0	0	0	6589	536	19	1	1266	1	GPAT2	2	96691751	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		96691751	146507622	5	19896											
TTN	7273	broad.mit.edu	37	chr2	179395245	179395245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaagttggttttagacgttCcaccttcaccagaaatctca	11	13	7	10	1	2	2	2	0	1	2	4	2	3	2	3	1	0	4	3	1	3	6			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179395245C>A	ENST00000591111.1	-	308	101398	c.101174G>T	c.(101173-101175)gGa>gTa	p.G33725V	TTN_ENST00000359218.5_Missense_Mutation_p.G26426V|TTN_ENST00000460472.2_Missense_Mutation_p.G26301V|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26493V|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G35366V|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32798V			Q8WZ42	TITIN_HUMAN	titin	33725	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGACGTTCCACCTTCACC	0.363																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98392-98394)gGa>gTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							141	125	130					2																	179395245		1843	4094	5937	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395245C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101174G>T	2.37:g.179395245C>A	ENSP00000465570:p.Gly33725Val					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26493V|TTN_uc021vta.1_Missense_Mutation_p.G26426V|TTN_uc021vtb.1_Missense_Mutation_p.G26301V|TTN_uc002umq.3_5'Flank	p.G32798V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	98618	-			33725			Ig-like 145.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98393G>T		.	.	.	.	.	.	.	.	.	.	C	14.09	2.430588	0.43122	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90442	0.7007	H	0.94658	3.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.992;0.992;0.996	D	0.93049	0.6464	9	0.87932	D	0	.	18.8263	0.92121	0.0:1.0:0.0:0.0	.	26301;26426;26493;33725	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32798;26301;26493;26426;26298	ENSP00000343764:G32798V;ENSP00000434586:G26301V;ENSP00000340554:G26493V;ENSP00000352154:G26426V	ENSP00000340554:G26493V	G	-	2	0	TTN	179103491	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.732000	0.68563	2.453000	0.82957	0.561000	0.74099	GGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179395245	C	A	179395245	3	1	278	1	0	0	0	0	1	0	0	0	16732	855	30	5	1902	5	TTN	2	179395245	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	82703494	179395245	63804128	6	19897											
TTN	7273	broad.mit.edu	37	chr2	179485027	179485027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaggagaagacagcGtcatcgaactcagtgactgt	12	7	13	9	2	2	3	2	1	0	2	3	5	2	3	0	2	3	2	0	2	2	0	rs370808856		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179485027G>A	ENST00000591111.1	-	198	41522	c.41298C>T	c.(41296-41298)gaC>gaT	p.D13766D	TTN_ENST00000359218.5_Silent_p.D6467D|TTN_ENST00000460472.2_Silent_p.D6342D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.D6534D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.D15407D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Silent_p.D12839D			Q8WZ42	TITIN_HUMAN	titin	13766	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D12839D(1)|p.D6342D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGACAGCGTCATCGAACT	0.433																																						uc021vsy.1																			2	Substitution - coding silent(2)	p.D12839D(1)|p.D6342D(1)	ovary(2)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(38515-38517)gaC>gaT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	1,3743		0,1,1871	110	107	108		19026,38517,19401,19602	-0.6	1	2		108	1,8215		0,1,4107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5978	AA,AG,GG		0.0122,0.0267,0.0167	,,,	6342/26927,12839/33424,6467/27052,6534/27119	179485027	2,11958	1872	4108	5980	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485027G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41298C>T	2.37:g.179485027G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.D6534D|TTN_uc021vta.1_Silent_p.D6467D|TTN_uc021vtb.1_Silent_p.D6342D	p.D12839D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		196	38742	-			13766			Ig-like 85.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.38517C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179485027	G	A	179485027	2	1	278	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179485027	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	89782	179485027	63714346	7	19898											
MYL3	4634	broad.mit.edu	37	chr3	46901034	46901034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctccttgtcgaagacccGcagcccctccacgaagtcct	7	7	8	19	3	0	1	0	0	0	1	4	3	3	1	7	0	1	1	7	0	2	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:46901034G>A	ENST00000395869.1	-	4	463	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	MYL3_ENST00000292327.4_Missense_Mutation_p.R138W			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	138	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCGAAGACCCGCAGCCCCTCC	0.572																																					Melanoma(166;130 1949 2249 18977 46142)	uc003cql.1																			0				breast(1)|lung(2)	3						c.(412-414)Cgg>Tgg		Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.							175	159	164					3																	46901034		2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46901034G>A		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.412C>T	3.37:g.46901034G>A	ENSP00000379210:p.Arg138Trp						p.R138W	NM_000258	NP_000249	P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	3	505	-			138			EF-hand 2.		B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.412C>T	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880259	0.72294	.	.	ENSG00000160808	ENST00000395869;ENST00000292327	D;D	0.85258	-1.96;-1.96	4.25	3.29	0.37713	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93743	0.8000	H	0.96833	3.89	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.94379	0.7603	10	0.66056	D	0.02	-23.5756	11.2251	0.48880	0.0:0.0:0.8167:0.1833	.	138	P08590	MYL3_HUMAN	W	138	ENSP00000379210:R138W;ENSP00000292327:R138W	ENSP00000292327:R138W	R	-	1	2	MYL3	46876038	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.746000	0.47467	2.375000	0.81037	0.555000	0.69702	CGG		0.572	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		A	46901034	G	A	46901034	3	1	278	1	0	0	0	0	1	0	0	0	10048	1086	38	1	187	1	MYL3	3	46901034	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		46901034	151121396	8	19899											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567280	142567280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactctcgaggtctatgaatCggaaattgagaacgactact	13	10	9	9	3	2	2	0	2	2	1	4	6	2	3	0	2	2	0	0	2	5	3	rs143959509		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:142567280C>T	ENST00000295992.3	-	3	533	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R76Q	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	76	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTATGAATCGGAAATTGAG	0.473													C|||	1	0.000199681	0	0	5008	,	,		20044	0		0.001	False		,,,				2504	0					uc003evd.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(226-228)cGa>cAa		Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.		C	GLN/ARG	0,4406		0,0,2203	73	72	73		227	5.1	1	3	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	missense	PCOLCE2	NM_013363.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	76/416	142567280	2,13004	2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567280C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.227G>A	3.37:g.142567280C>T	ENSP00000295992:p.Arg76Gln						p.R76Q	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			2	534	-			76			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.227G>A	CCDS3127.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.11	1.839321	0.32513	0.0	2.33E-4	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.16597	2.33;2.33	5.1	5.1	0.69264	CUB (5);	0.118422	0.64402	D	0.000018	T	0.13200	0.0320	L	0.28740	0.885	0.54753	D	0.999982	P	0.41265	0.744	B	0.36666	0.23	T	0.10177	-1.0641	10	0.11794	T	0.64	-3.7224	18.7404	0.91772	0.0:1.0:0.0:0.0	.	76	Q9UKZ9	PCOC2_HUMAN	Q	76	ENSP00000295992:R76Q;ENSP00000419842:R76Q	ENSP00000295992:R76Q	R	-	2	0	PCOLCE2	144049970	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.628000	0.67791	2.666000	0.90696	0.644000	0.83932	CGA		0.473	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		T	142567280	C	T	142567280	3	4	278	1	0	0	0	0	1	0	0	0	11595	884	31	2	1048	2	PCOLCE2	3	142567280	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	95666246	142567280	55455150	9	19900											
SGEF	26084	broad.mit.edu	37	chr3	153840688	153840688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgaggtcgataacgacgtgGatagcccagggtctctgcgg	8	8	16	9	4	1	1	0	1	1	0	3	4	1	2	1	4	3	0	1	4	2	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:153840688G>C	ENST00000356448.4	+	2	1191	c.907G>C	c.(907-909)Gat>Cat	p.D303H	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.D303H|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.D303H	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	303					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TAACGACGTGGATAGCCCAGG	0.597																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc021xgc.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(907-909)Gat>Cat		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.							47	61	56					3																	153840688		2037	4176	6213	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840688G>C	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.907G>C	3.37:g.153840688G>C	ENSP00000348828:p.Asp303His					ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Missense_Mutation_p.D303H|ARHGEF26_uc011boh.1_Missense_Mutation_p.D303H	p.D303H	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN			1	1191	+			303					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.907G>C	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902320	0.72754	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.60040	0.22;0.22;1.86	5.3	4.42	0.53409	.	0.102000	0.64402	D	0.000003	T	0.63153	0.2487	L	0.53249	1.67	0.46749	D	0.999182	P;P	0.49961	0.93;0.93	P;P	0.50231	0.635;0.635	T	0.67397	-0.5681	10	0.66056	D	0.02	-21.8615	15.3605	0.74469	0.0:0.0:0.8594:0.1406	.	303;303	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	H	303	ENSP00000348828:D303H;ENSP00000423418:D303H;ENSP00000423295:D303H	ENSP00000348828:D303H	D	+	1	0	ARHGEF26	155323378	1.000000	0.71417	0.874000	0.34290	0.818000	0.46254	5.117000	0.64667	1.218000	0.43458	0.561000	0.74099	GAT		0.597	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		C	153840688	G	C	153840688	3	2	278	1	0	0	0	0	1	0	0	0	14205	1174	41	5	909	5	SGEF	3	153840688	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	11273408	153840688	44181742	10	19901											
UGT2A3	79799	broad.mit.edu	37	chr4	69817091	69817091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcataagcgtctgattgtAgataaagctctcacacatca	13	12	6	10	1	4	2	3	1	2	1	5	2	4	2	0	0	2	2	0	0	4	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:69817091A>G	ENST00000251566.4	-	1	418	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	130					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTGATTGTAGATAAAGCTC	0.383																																						uc003hef.2																			0		p.I129M(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(388-390)Tac>Cac		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							64	65	65					4																	69817091		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69817091A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.388T>C	4.37:g.69817091A>G	ENSP00000251566:p.Tyr130His					UGT2A3_uc010ihp.1_Non-coding_Transcript	p.Y130H	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			0	419	-			130					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.388T>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755295	0.31046	.	.	ENSG00000135220	ENST00000251566	T	0.61274	0.12	4.74	3.52	0.40303	.	0.288443	0.28290	N	0.015881	T	0.52451	0.1735	N	0.26130	0.795	0.09310	N	0.999999	D	0.54964	0.969	D	0.64595	0.927	T	0.43442	-0.9391	10	0.15066	T	0.55	.	4.2188	0.10547	0.7254:0.0:0.0968:0.1778	.	130	Q6UWM9	UD2A3_HUMAN	H	130	ENSP00000251566:Y130H	ENSP00000251566:Y130H	Y	-	1	0	UGT2A3	69851680	0.000000	0.05858	0.009000	0.14445	0.622000	0.37654	-0.267000	0.08619	1.996000	0.58369	0.482000	0.46254	TAC		0.383	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69817091	A	G	69817091	3	3	278	1	0	0	0	0	1	0	0	0	16952	420	15	4	1219	4	UGT2A3	4	69817091	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08		69817091	121337185	11	19902											
ANXA3	306	broad.mit.edu	37	chr4	79503370	79503370	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgatctctctggccacTttgagcatctcatggtggcc	6	12	12	11	0	3	2	1	2	3	0	5	2	3	2	2	4	1	1	2	4	0	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:79503370T>A	ENST00000264908.6	+	5	617	c.238T>A	c.(238-240)Ttt>Att	p.F80I	ANXA3_ENST00000512884.1_Missense_Mutation_p.F41I|ANXA3_ENST00000503570.2_Missense_Mutation_p.F41I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	80					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTCTGGCCACTTTGAGCATCT	0.428																																					GBM(2;126 157 27790 28920 42492)	uc003hld.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(238-240)Ttt>Att		Homo sapiens annexin A3 (ANXA3), mRNA.							90	86	88					4																	79503370		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79503370T>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.238T>A	4.37:g.79503370T>A	ENSP00000264908:p.Phe80Ile						p.F80I	NM_005139	NP_005130	P12429	ANXA3_HUMAN			4	548	+			80					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.238T>A	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137931	0.77775	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62;3.62	5.16	5.16	0.70880	Annexin repeat, conserved site (1);	0.104199	0.64402	D	0.000003	T	0.25044	0.0608	M	0.93062	3.375	0.58432	D	0.999998	D	0.69078	0.997	D	0.68621	0.959	T	0.03086	-1.1074	10	0.87932	D	0	.	9.1183	0.36771	0.0:0.0852:0.0:0.9148	.	80	P12429	ANXA3_HUMAN	I	80;41;41;80;80;80	ENSP00000264908:F80I;ENSP00000423068:F41I;ENSP00000421015:F41I;ENSP00000424584:F80I;ENSP00000421512:F80I;ENSP00000422281:F80I	ENSP00000264908:F80I	F	+	1	0	ANXA3	79722394	0.946000	0.32159	0.982000	0.44146	0.871000	0.50021	1.246000	0.32803	2.159000	0.67721	0.482000	0.46254	TTT		0.428	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		A	79503370	T	A	79503370	3	1	278	1	0	0	0	0	1	0	0	0	719	1609	56	5	252	5	ANXA3	4	79503370	Missense_Mutation	SNP	T	TCGA-76-6662-01A-11D-1845-08	9686279	79503370	111650906	12	19903											
ODZ3	55714	broad.mit.edu	37	chr4	183714569	183714569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggacagcacctgcagttTttttatgctgacttaactta	10	15	7	9	0	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	4	7			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:183714569T>C	ENST00000511685.1	+	26	6867	c.6744T>C	c.(6742-6744)ttT>ttC	p.F2248F	TENM3_ENST00000406950.2_Silent_p.F2248F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2248					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCTGCAGTTTTTTTATGCTG	0.438																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(6742-6744)ttT>ttC		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							60	61	60					4																	183714569		1883	4108	5991	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183714569T>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6744T>C	4.37:g.183714569T>C							p.F2248F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	6819	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2248					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6744T>C	CCDS47165.1																																																																																				0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			C	183714569	T	C	183714569	2	2	278	1	0	0	0	0	0	0	0	1	10836	1838	64	4		4	ODZ3	4	183714569	Silent	SNP	T	TCGA-76-6662-01A-11D-1845-08	104211199	183714569	7439707	13	19904											
PIK3R1	5295	broad.mit.edu	37	chr5	67589590	67589591	+	In_Frame_Ins	INS	-	-	TAT																															tagggaaaaaattacatgaaINStataacactcagtttcaaga																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:67589590_67589591insTAT	ENST00000521381.1	+	11	1969_1970	c.1353_1354insTAT	c.(1354-1356)tat>TATtat	p.452_452Y>YY	PIK3R1_ENST00000523872.1_In_Frame_Ins_p.89_89Y>YY|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.452_452Y>YY|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.182_182Y>YY|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.452_452Y>YY|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.152_152Y>YY|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.452_452Y>YY	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	452					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y152N(1)|p.0?(1)|p.?(1)|p.Y452N(1)|p.Y182N(1)|p.E451_Y452del(1)|p.N453_T454insN(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATTACATGAATATAACACTCA	0.277			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		11	Deletion - In frame(4)|Substitution - Missense(3)|Insertion - In frame(1)|Unknown(1)|Whole gene deletion(1)|Complex - deletion inframe(1)	p.N453_T454insN(4)|p.H450_E451del(4)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.E451_Y452delEY(2)|p.Y152N(1)|p.Y452_Q455>SGGSRIK(1)|p.0?(1)|p.?(1)|p.Y182N(1)|p.453_454insN(1)	endometrium(5)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1351-1356)insTAT		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589590_67589591insTAT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1354_1356dupTAT	5.37:g.67589591_67589593dupTAT	ENSP00000428056:p.Tyr452dup	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Ins_p.152_153insY|PIK3R1_uc003jvd.3_In_Frame_Ins_p.182_183insY|PIK3R1_uc003jve.3_In_Frame_Ins_p.131_132insY|PIK3R1_uc021xzn.1_In_Frame_Ins_p.89_90insY|PIK3R1_uc011crb.2_In_Frame_Ins_p.122_123insY	p.452_453insY	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1933_1934	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	452					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1353_1354insTAT	CCDS3993.1																																																																																				0.277	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		TAT	67589591	-	TAT	67589590	7	5	278	1	0	1	1	0	0	0	0	0	11918	98	4	0	1521	0	PIK3R1	5	67589590	In_Frame_Ins	INS	-	TCGA-76-6662-01A-11D-1845-08		67589590	113325670	14	19905											
GPR98	84059	broad.mit.edu	37	chr5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaagagatgacaatgacGaggaaggagaagaattattc	17	7	12	5	1	0	5	0	2	0	3	1	9	0	6	0	2	1	1	0	2	6	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:89953946G>A	ENST00000405460.2	+	21	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1535	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4603-4605)Gag>Aag		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							109	111	110					5																	89953946		1835	4088	5923	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953946G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4603G>A	5.37:g.89953946G>A	ENSP00000384582:p.Glu1535Lys					GPR98_uc003kjt.3_5'UTR	p.E1535K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	4699	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1535			Calx-beta 10.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4603G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204484	0.79127	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27104	1.69	5.86	5.86	0.93980	.	0.044278	0.85682	D	0.000000	T	0.41534	0.1163	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.21245	-1.0251	10	0.59425	D	0.04	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	1535	Q8WXG9	GPR98_HUMAN	K	1535	ENSP00000384582:E1535K	ENSP00000296619:E1535K	E	+	1	0	GPR98	89989702	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	9.578000	0.98200	2.771000	0.95319	0.650000	0.86243	GAG		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89953946	G	A	89953946	3	1	278	1	0	0	0	0	1	0	0	0	6721	1059	37	2	4685	2	GPR98	5	89953946	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	22364356	89953946	90961314	15	19906											
STK10	6793	broad.mit.edu	37	chr5	171488225	171488225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcggtggtgagcctcttCatggccagctccaggtcctc	4	12	12	13	1	2	1	1	1	1	0	6	1	4	1	4	4	2	1	4	4	0	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:171488225C>T	ENST00000176763.5	-	14	2473	c.2130G>A	c.(2128-2130)atG>atA	p.M710I		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	710			M -> T (in dbSNP:rs34936670). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTCTTCATGGCCAGCT	0.612																																						uc003mbo.1																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2128-2130)atG>atA		Homo sapiens serine/threonine kinase 10 (STK10), mRNA.							156	138	144					5																	171488225		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488225C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2130G>A	5.37:g.171488225C>T	ENSP00000176763:p.Met710Ile						p.M710I	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2430	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	710		M -> T (in dbSNP:rs34936670).			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2130G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743347	0.49151	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.31769	1.48	4.99	4.99	0.66335	.	0.133683	0.64402	D	0.000010	T	0.34279	0.0892	M	0.62723	1.935	0.38707	D	0.953119	B	0.09022	0.002	B	0.17979	0.02	T	0.20338	-1.0278	10	0.41790	T	0.15	.	15.7898	0.78345	0.0:1.0:0.0:0.0	.	710	O94804	STK10_HUMAN	I	710	ENSP00000176763:M710I	ENSP00000176763:M710I	M	-	3	0	STK10	171420830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.402000	0.34600	2.299000	0.77371	0.455000	0.32223	ATG		0.612	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		T	171488225	C	T	171488225	3	4	278	1	0	0	0	0	1	0	0	0	15285	826	29	3	800	3	STK10	5	171488225	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	81534279	171488225	9427035	16	19907											
IMPG1	3617	broad.mit.edu	37	chr6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctcttaaagatggccGtaagttgcatctctgtggag	8	14	12	7	1	2	1	0	0	2	1	4	2	2	2	1	2	1	3	1	2	3	3	rs370162508		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:76715225G>A	ENST00000369950.3	-	10	1103	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448													G|||	1	0.000199681	0	0	5008	,	,		17487	0.001		0	False		,,,				2504	0				Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(913-915)aCg>aTg		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110	99	103		914	-2.4	0	6		103	0,8600		0,0,4300	no	missense	IMPG1	NM_001563.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/798	76715225	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715225G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.914C>T	6.37:g.76715225G>A	ENSP00000358966:p.Thr305Met						p.T305M	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			9	1044	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	305			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.914C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591715	0.03799	2.27E-4	0.0	ENSG00000112706	ENST00000369950	T	0.39997	1.05	5.82	-2.44	0.06502	SEA (2);	1.034680	0.07601	N	0.923616	T	0.06325	0.0163	N	0.03177	-0.4	0.09310	N	1	B	0.25772	0.134	B	0.22753	0.041	T	0.33979	-0.9847	10	0.18710	T	0.47	.	11.2022	0.48747	0.4755:0.0:0.5245:0.0	.	305	Q17R60	IMPG1_HUMAN	M	305	ENSP00000358966:T305M	ENSP00000358966:T305M	T	-	2	0	IMPG1	76771945	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	0.158000	0.16422	-0.381000	0.07882	0.585000	0.79938	ACG		0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76715225	G	A	76715225	3	1	278	1	0	0	0	0	1	0	0	0	7728	1145	40	1	1511	1	IMPG1	6	76715225	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		76715225	94399842	17	19908											
ULBP1	80329	broad.mit.edu	37	chr6	150290460	150290460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagatgtggcttgaagaaTttttgatgtactgggaacaa	13	13	12	3	0	0	4	0	2	0	2	0	5	0	5	0	2	2	3	0	2	6	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:150290460T>G	ENST00000229708.3	+	3	632	c.589T>G	c.(589-591)Ttt>Gtt	p.F197V		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	197	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GCTTGAAGAATTTTTGATGTA	0.443																																						uc003qnp.3																			0		p.E196*(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(589-591)Ttt>Gtt		Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.							89	91	90					6																	150290460		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150290460T>G	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.589T>G	6.37:g.150290460T>G	ENSP00000229708:p.Phe197Val						p.F197V	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	632	+		Ovarian(120;0.0907)	197			MHC class I alpha-2 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.589T>G	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	t	12.62	1.993983	0.35131	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.08984	3.03;3.03	2.13	0.861	0.19048	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.10121	0.0248	M	0.73598	2.24	0.09310	N	1	D	0.55172	0.97	P	0.62740	0.906	T	0.10245	-1.0638	9	0.87932	D	0	.	4.202	0.10471	0.3073:0.0:0.0:0.6927	.	197	Q9BZM6	N2DL1_HUMAN	V	197	ENSP00000356314:F197V;ENSP00000229708:F197V	ENSP00000229708:F197V	F	+	1	0	ULBP1	150332153	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.368000	0.02580	0.225000	0.20959	0.164000	0.16699	TTT		0.443	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			G	150290460	T	G	150290460	3	3	278	1	0	0	0	0	1	0	0	0	16969	1493	52	5	599	5	ULBP1	6	150290460	Missense_Mutation	SNP	T	TCGA-76-6662-01A-11D-1845-08	73575235	150290460	20824607	18	19909											
KIF25	3834	broad.mit.edu	37	chr6	168443281	168443281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctgagggagatggcGtgcatcagccgcagccttgc	6	8	15	12	2	1	2	1	1	0	1	1	3	1	2	3	3	4	2	3	3	0	2	rs371921249		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:168443281G>A	ENST00000443060.2	+	9	1261	c.870G>A	c.(868-870)gcG>gcA	p.A290A	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.A290A			Q9UIL4	KIF25_HUMAN	kinesin family member 25	290	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647													G|||	1	0.000199681	0	0	5008	,	,		16986	0		0.001	False		,,,				2504	0					uc003qwk.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(868-870)gcG>gcA		Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	118	111	113		,870	-8.2	0	6		113	0,8600		0,0,4300	no	intron,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,290/385	168443281	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443281G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.870G>A	6.37:g.168443281G>A						KIF25_uc003qwl.1_Intron	p.A290A	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1132	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	290			Kinesin-motor.		O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.870G>A	CCDS5305.1																																																																																				0.647	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			A	168443281	G	A	168443281	2	1	278	1	0	0	0	0	0	0	0	1	8293	1132	40	1		1	KIF25	6	168443281	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	18152821	168443281	2671786	19	19910											
TFPI2	7980	broad.mit.edu	37	chr7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaccttttgcacatgcacGtttgcaatcctccctgctaa	9	13	5	14	1	0	0	0	0	0	0	2	0	2	0	3	0	5	5	3	0	3	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:93516588G>A	ENST00000222543.5	-	4	928	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	206	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323																																						uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(616-618)Cgt>Tgt		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							102	90	94					7																	93516588		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516588G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.616C>T	7.37:g.93516588G>A	ENSP00000222543:p.Arg206Cys					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	p.R206C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	691	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		206			BPTI/Kunitz inhibitor 3.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.616C>T	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528041	0.44969	.	.	ENSG00000105825	ENST00000222543	T	0.59083	0.29	5.47	-0.276	0.12902	Proteinase inhibitor I2, Kunitz metazoa (6);	1.098040	0.06910	N	0.807456	T	0.73575	0.3604	M	0.69185	2.1	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.63597	0.916;0.877;0.877	T	0.68465	-0.5401	10	0.59425	D	0.04	.	16.4475	0.83942	0.0:0.0:0.2316:0.7684	.	138;195;206	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	C	206	ENSP00000222543:R206C	ENSP00000222543:R206C	R	-	1	0	TFPI2	93354524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	0.028000	0.15324	0.655000	0.94253	CGT		0.323	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		A	93516588	G	A	93516588	3	1	278	1	0	0	0	0	1	0	0	0	15806	1145	40	1	99	1	TFPI2	7	93516588	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		93516588	65622075	20	19911											
ZAN	7455	broad.mit.edu	37	chr7	100364654	100364654	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgccacctgcacagcctCgggtgacccccactacctga	7	6	9	19	2	0	2	0	2	0	0	1	2	0	2	7	1	4	1	7	1	1	1	rs377250580		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:100364654C>T	ENST00000348028.3	+	0	4799				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACAGCCTCGGGTGACCCC	0.607													C|||	1	0.000199681	0	0	5008	,	,		18116	0		0.001	False		,,,				2504	0					uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(4633-4635)tCg>tTg		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.		C	LEU/SER,LEU/SER	1,4357		0,1,2178	84	89	87		4634,4634	2.6	0	7		87	1,8557		0,1,4278	no	missense,missense	ZAN	NM_003386.1,NM_173059.1	145,145	0,2,6456	TT,TC,CC		0.0117,0.0229,0.0155	possibly-damaging,possibly-damaging	1545/2813,1545/2722	100364654	2,12914	2179	4279	6458			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364654C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364654C>T						ZAN_uc003uwk.3_Missense_Mutation_p.S1545L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S122L	p.S1545L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		24	4799	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1545			VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4634C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035695	0.75617	2.29E-4	1.17E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.44	2.59	0.31030	von Willebrand factor, type D domain (3);	0.236513	0.22068	N	0.065067	T	0.48822	0.1521	M	0.68952	2.095	0.20821	N	0.999841	P;P	0.37997	0.56;0.614	B;B	0.34346	0.112;0.18	T	0.40887	-0.9539	10	0.41790	T	0.15	.	6.5739	0.22553	0.0:0.7137:0.1833:0.103	.	1545;1545	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1545;1545;1545;122	ENSP00000445943:S1545L;ENSP00000445091:S1545L;ENSP00000444427:S1545L;ENSP00000441117:S122L	ENSP00000423579:S1545L	S	+	2	0	ZAN	100202590	0.000000	0.05858	0.009000	0.14445	0.048000	0.14542	0.522000	0.22909	0.577000	0.29470	0.556000	0.70494	TCG		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100364654	C	T	100364654	1	4	278	0	1	0	0	0	0	0	0	0	17510	893	31	2		2	ZAN	7	100364654	RNA	SNP	C	TCGA-76-6662-01A-11D-1845-08	6848066	100364654	58774009	21	19912											
REPIN1	29803	broad.mit.edu	37	chr7	150069247	150069247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcttccggcacaaacccaAcctgctgtctcacagcaaga	11	6	7	17	2	1	1	1	0	1	1	3	1	2	1	4	1	4	4	4	1	3	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:150069247A>G	ENST00000425389.2	+	1	995	c.917A>G	c.(916-918)aAc>aGc	p.N306S	REPIN1_ENST00000444957.1_Missense_Mutation_p.N306S|REPIN1_ENST00000397281.2_Missense_Mutation_p.N306S|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.N363S|REPIN1_ENST00000540729.1_Missense_Mutation_p.N306S	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	306					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACAAACCCAACCTGCTGTCT	0.672																																						uc022apt.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(418-420)gTt>gCt		Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).							11	14	13					7																	150069247		2118	4244	6362	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069247A>G	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.917A>G	7.37:g.150069247A>G	ENSP00000388287:p.Asn306Ser					REPIN1_uc003whd.2_Missense_Mutation_p.N295S|REPIN1_uc010lpq.1_Missense_Mutation_p.N306S|REPIN1_uc010lpr.1_Missense_Mutation_p.N363S|REPIN1_uc003whc.2_Missense_Mutation_p.N306S|REPIN1_uc003whe.2_Missense_Mutation_p.N306S	p.V140A			Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		0	787	-	Ovarian(565;0.183)|Melanoma(164;0.226)		0					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.419T>C	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468829	0.43839	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.91	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.987;0.998	P;D	0.72625	0.772;0.978	T	0.43845	-0.9366	9	0.08381	T	0.77	-18.6697	8.4241	0.32718	0.9077:0.0:0.0923:0.0	.	363;306	C9J3L7;Q9BWE0	.;REPI1_HUMAN	S	306;306;306;363;365;366;306	ENSP00000445016:N306S;ENSP00000380451:N306S;ENSP00000407714:N306S;ENSP00000417291:N363S;ENSP00000419789:N365S;ENSP00000419872:N366S;ENSP00000388287:N306S	ENSP00000380451:N306S	N	+	2	0	REPIN1	149700180	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.056000	0.11787	0.917000	0.36895	0.379000	0.24179	AAC		0.672	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		G	150069247	A	G	150069247	3	3	278	1	0	0	0	0	1	0	0	0	13227	43	2	4	1094	4	REPIN1	7	150069247	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08	49704593	150069247	9069416	22	19913											
ATP6V1C1	528	broad.mit.edu	37	chr8	104064965	104064965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctttttcaaagggagtaActcagattgataatgacctg	12	15	8	6	0	3	3	2	2	1	1	3	4	3	4	1	1	1	1	1	1	3	6			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:104064965A>C	ENST00000395862.3	+	6	547	c.388A>C	c.(388-390)Act>Cct	p.T130P	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.T130P|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.T55P|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.T55P	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	130					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAAGGGAGTAACTCAGATTGA	0.318																																						uc003ykz.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(388-390)Act>Cct		Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.							74	80	78					8																	104064965		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104064965A>C	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.388A>C	8.37:g.104064965A>C	ENSP00000379203:p.Thr130Pro					ATP6V1C1_uc010mbz.3_Missense_Mutation_p.T55P|ATP6V1C1_uc003yla.3_Missense_Mutation_p.T130P|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.T55P	p.T130P	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		5	633	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		130						Missense_Mutation	SNP	ENST00000395862.3	37	c.388A>C	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633327	0.67015	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.75	5.75	0.90469	.	0.243808	0.46758	D	0.000280	T	0.52917	0.1764	M	0.80183	2.485	0.45899	D	0.998747	P	0.37573	0.6	B	0.41813	0.367	T	0.55976	-0.8055	10	0.44086	T	0.13	.	16.1014	0.81175	1.0:0.0:0.0:0.0	.	130	P21283	VATC1_HUMAN	P	55;130;55;130	ENSP00000428204:T55P;ENSP00000379203:T130P;ENSP00000430129:T55P;ENSP00000430282:T130P	ENSP00000379203:T130P	T	+	1	0	ATP6V1C1	104134141	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.658000	0.68003	2.208000	0.71279	0.456000	0.33151	ACT		0.318	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		C	104064965	A	C	104064965	3	2	278	1	0	0	0	0	1	0	0	0	1180	43	2	5	406	5	ATP6V1C1	8	104064965	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08		104064965	42299057	23	19914											
NFKBIL2	4796	broad.mit.edu	37	chr8	145654644	145654644	+	Frame_Shift_Del	DEL	C	C	-																															cagcgcagaggcgtctgctgCacagctgcagttcccggagc																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:145654644delC	ENST00000409379.3	-	26	4048	c.4019delG	c.(4018-4020)tgcfs	p.C1340fs	VPS28_ENST00000526054.1_5'Flank|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000292510.4_5'Flank|VPS28_ENST00000529182.1_5'Flank|VPS28_ENST00000377348.2_5'Flank	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1340					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCGTCTGCTGCACAGCTGCAG	0.721																																						uc011llg.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(4018-4020)tgcfs		Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.							10	10	10					8																	145654644		2087	4079	6166	SO:0001589	frameshift_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145654644delC		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.4019delG	8.37:g.145654644delC	ENSP00000386239:p.Cys1340fs					VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	p.C1340fs	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN			25	4034	-			1340					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Frame_Shift_Del	DEL	ENST00000409379.3	37	c.4019delG	CCDS34968.2																																																																																				0.721	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		-	145654644	C	-	145654644	7	5	278	1	0	1	0	1	0	0	0	0	10382	710	25	0	121	0	NFKBIL2	8	145654644	Frame_Shift_Del	DEL	C	TCGA-76-6662-01A-11D-1845-08	41589679	145654644	709378	24	19915											
NAA35	60560	broad.mit.edu	37	chr9	88576949	88576950	+	Frame_Shift_Del	DEL	TC	TC	-																															taacgtggttagaaggccatTcactggcacagacagtattt																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:88576949_88576950delTC	ENST00000361671.5	+	6	503_504	c.370_371delTC	c.(370-372)tcafs	p.S124fs	NAA35_ENST00000376040.1_Frame_Shift_Del_p.S124fs	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	124					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAGGCCATTCACTGGCACAG	0.366																																						uc004aoi.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(370-372)tcafs		Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.																																				SO:0001589	frameshift_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88576949_88576950delTC	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.370_371delTC	9.37:g.88576949_88576950delTC	ENSP00000354972:p.Ser124fs					NAA35_uc004aoj.4_Frame_Shift_Del_p.S124fs|NAA35_uc004aok.1_Frame_Shift_Del_p.S124fs	p.S124fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			5	507_508	+			124					Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	ENST00000361671.5	37	c.370_371delTC	CCDS6673.1																																																																																				0.366	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		-	88576950	TC	-	88576949	7	5	278	1	0	1	0	1	0	0	0	0	10123	1783	62	0	388	0	NAA35	9	88576949	Frame_Shift_Del	DEL	TC	TCGA-76-6662-01A-11D-1845-08		88576949	52636482	25	19916											
RXRA	6256	broad.mit.edu	37	chr9	137309042	137309042	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggcaaggaccggaacGagaatgaggtggagtcgacc	12	4	17	8	4	0	2	0	1	0	1	1	7	0	5	2	5	2	1	2	5	3	0			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:137309042G>T	ENST00000481739.1	+	5	701	c.649G>T	c.(649-651)Gag>Tag	p.E217*	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Nonsense_Mutation_p.E120*	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	217	Hinge.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GGACCGGAACGAGAATGAGGT	0.677																																						uc004cfb.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(649-651)Gag>Tag		Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						117	90	99					9																	137309042		2203	4300	6503	SO:0001587	stop_gained	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137309042G>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.649G>T	9.37:g.137309042G>T	ENSP00000419692:p.Glu217*					RXRA_uc004cfc.1_Nonsense_Mutation_p.E120*|RXRA_uc004cfd.1_5'UTR	p.E217*	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	811	+			217			Hinge.		B3KY83|Q2NL52|Q2V504	Nonsense_Mutation	SNP	ENST00000481739.1	37	c.649G>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377302	0.82682	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	.	.	.	4.53	4.53	0.55603	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	17.6196	0.88077	0.0:0.0:1.0:0.0	.	.	.	.	X	217;120	.	ENSP00000419692:E217X	E	+	1	0	RXRA	136448863	1.000000	0.71417	0.030000	0.17652	0.009000	0.06853	9.329000	0.96413	2.199000	0.70637	0.462000	0.41574	GAG		0.677	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		T	137309042	G	T	137309042	4	4	278	1	0	0	0	0	0	1	0	0	13763	1059	37	5	667	5	RXRA	9	137309042	Nonsense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	48732093	137309042	3904389	26	19917											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							155	133	141					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717672	C	T	89717672	4	4	278	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		89717672	45817075	27	19918											
KIF20B	9585	broad.mit.edu	37	chr10	91498052	91498052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagagcgctttcagaaCttacacaaggtgttacttgc	13	10	10	8	1	1	2	1	0	0	2	1	4	1	2	0	1	5	2	0	1	5	4			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:91498052C>A	ENST00000371728.3	+	20	3519	c.3454C>A	c.(3454-3456)Ctt>Att	p.L1152I	KIF20B_ENST00000260753.4_Missense_Mutation_p.L1112I|KIF20B_ENST00000416354.1_Missense_Mutation_p.L1182I|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1152I	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1152					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTTCAGAACTTACACAAGG	0.343																																						uc001kgs.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3454-3456)Ctt>Att		Homo sapiens kinesin family member 20B (KIF20B), mRNA.							70	78	75					10																	91498052		2202	4295	6497	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498052C>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3454C>A	10.37:g.91498052C>A	ENSP00000360793:p.Leu1152Ile					KIF20B_uc001kgr.1_Missense_Mutation_p.L1112I|KIF20B_uc001kgt.1_Missense_Mutation_p.L363I|KIF20B_uc009xtw.1_Non-coding_Transcript	p.L1152I	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			19	3526	+			1152					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3454C>A		.	.	.	.	.	.	.	.	.	.	C	11.92	1.781624	0.31502	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71698	-0.49;-0.5;-0.59;-0.51	5.82	4.73	0.59995	.	0.144593	0.32314	N	0.006266	T	0.76227	0.3958	M	0.62723	1.935	0.32754	N	0.50599	D;D	0.61697	0.982;0.99	P;P	0.57283	0.661;0.817	T	0.80647	-0.1289	10	0.48119	T	0.1	-10.4292	10.3924	0.44181	0.0:0.855:0.0:0.145	.	1152;1112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	I	1112;1182;1152;1152	ENSP00000260753:L1112I;ENSP00000411545:L1182I;ENSP00000377830:L1152I;ENSP00000360793:L1152I	ENSP00000260753:L1112I	L	+	1	0	KIF20B	91488032	0.629000	0.27146	0.993000	0.49108	0.123000	0.20343	0.365000	0.20348	2.753000	0.94483	0.467000	0.42956	CTT		0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		A	91498052	C	A	91498052	3	1	278	1	0	0	0	0	1	0	0	0	8287	565	20	5	3408	5	KIF20B	10	91498052	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	1780380	91498052	44036695	28	19919											
WDR11	55717	broad.mit.edu	37	chr10	122649467	122649467	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcctggtaaaggaaaTcaaaaattaatagcaatgta	17	12	7	5	0	1	0	1	0	0	0	2	1	2	1	1	2	2	4	1	2	9	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:122649467T>C	ENST00000263461.6	+	18	2535	c.2289T>C	c.(2287-2289)aaT>aaC	p.N763N	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTAAAGGAAATCAAAAATTAA	0.383																																						uc021pzt.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2287-2289)aaT>aaC		Homo sapiens WD repeat domain 11 (WDR11), mRNA.							124	116	119					10																	122649467		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122649467T>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2289T>C	10.37:g.122649467T>C						WDR11_uc010qte.2_Silent_p.N365N|WDR11_uc001lfd.1_Silent_p.N281N	p.N763N	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			17	2535	+			763					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.2289T>C	CCDS7619.1																																																																																				0.383	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			C	122649467	T	C	122649467	2	2	278	1	0	0	0	0	0	0	0	1	17270	1432	50	4		4	WDR11	10	122649467	Silent	SNP	T	TCGA-76-6662-01A-11D-1845-08	31151415	122649467	12885280	29	19920											
OR5D18	219438	broad.mit.edu	37	chr11	55587178	55587178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagattacccagaactgCaagtcccactcttcctggtt	9	12	6	14	0	2	2	1	0	2	2	5	2	4	2	3	1	3	2	3	1	3	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:55587178C>G	ENST00000333976.4	+	1	93	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCCAGAACTGCAAGTCCCACT	0.448																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(73-75)Caa>Gaa		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							132	123	126					11																	55587178		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587178C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.73C>G	11.37:g.55587178C>G	ENSP00000335025:p.Gln25Glu						p.Q25E	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	73	+		all_epithelial(135;0.208)	25					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.73C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042108	0.35989	.	.	ENSG00000186119	ENST00000333976	T	0.00593	6.34	5.18	4.2	0.49525	.	0.427868	0.17330	N	0.178141	T	0.00967	0.0032	L	0.58925	1.835	0.09310	N	1	B	0.10296	0.003	B	0.23018	0.043	T	0.39143	-0.9628	10	0.62326	D	0.03	4.0298	13.3098	0.60374	0.1993:0.8007:0.0:0.0	.	25	Q8NGL1	OR5DI_HUMAN	E	25	ENSP00000335025:Q25E	ENSP00000335025:Q25E	Q	+	1	0	OR5D18	55343754	.	.	0.062000	0.19696	0.937000	0.57800	.	.	1.175000	0.42826	0.632000	0.83419	CAA		0.448	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		G	55587178	C	G	55587178	3	3	278	1	0	0	0	0	1	0	0	0	11157	711	25	5	75	5	OR5D18	11	55587178	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		55587178	79419338	30	19921											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-																															aatcactggtggtggggtagCatcatcatcatcatcatcct																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						uc001oyh.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gatgct>gct		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_uc010rso.2_In_Frame_Del_p.D85del|PAK1_uc001oyg.4_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.2_5'UTR	p.D183del	NM_002576	NP_002567	Q13153	PAK1_HUMAN			5	1081_1083	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		-	77069992	CAT	-	77069990	7	5	278	1	0	1	0	1	0	0	0	0	11399	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-76-6662-01A-11D-1845-08	21482812	77069990	57936526	31	19922											
MAML2	84441	broad.mit.edu	37	chr11	95825767	95825767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctggggattttctcctgCccaaatggacctggtgatgg	6	11	15	9	0	1	1	0	1	1	0	2	3	1	3	3	6	1	1	3	6	1	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:95825767C>T	ENST00000524717.1	-	2	2712	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	476					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTTCTCCTGCCCAAATGGAC	0.602			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0		p.G476V(1)		breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1426-1428)ggG>ggA		Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.							48	51	50					11																	95825767		2103	4252	6355	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825767C>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1428G>A	11.37:g.95825767C>T							p.G476G	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			1	2713	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	476					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.1428G>A	CCDS44714.1																																																																																				0.602	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825767	C	T	95825767	2	4	278	1	0	0	0	0	0	0	0	1	9206	726	26	3		3	MAML2	11	95825767	Silent	SNP	C	TCGA-76-6662-01A-11D-1845-08	18755777	95825767	39180749	32	19923											
RB1	5925	broad.mit.edu	37	chr13	48919241	48919244	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															ataaattctttaacttactaAaagaaattgataccagtacc																								rs121913296		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr13:48919241_48919244delAAAG	ENST00000267163.4	+	4	544_547	c.406_409delAAAG	c.(406-411)aaagaafs	p.KE136fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	136					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E137*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TAACTTACTAAAAGAAATTGATAC	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(2)	p.0?(15)|p.?(6)|p.E137*(4)	bone(11)|breast(6)|eye(3)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM961221	RB1	M	rs121913296	c.(406-411)aaagaafs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48919241_48919244delAAAG	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.406_409delAAAG	13.37:g.48919241_48919244delAAAG	ENSP00000267163:p.Lys136fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.K136fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	572_575	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	136					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.406_409delAAAG	CCDS31973.1																																																																																				0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48919244	AAAG	-	48919241	7	5	278	1	0	1	0	1	0	0	0	0	13098	15	1	0	420	0	RB1	13	48919241	Frame_Shift_Del	DEL	AAAG	TCGA-76-6662-01A-11D-1845-08		48919241	66250637	33	19924											
REM2	161253	broad.mit.edu	37	chr14	23353987	23353987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagacgaagaggcagtatgCctgtcccctacaagcaccag	12	5	10	14	1	0	2	0	0	0	2	1	3	1	2	5	1	3	3	5	1	4	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr14:23353987C>T	ENST00000267396.4	+	2	331	c.208C>T	c.(208-210)Cct>Tct	p.P70S	REM2_ENST00000536884.1_Missense_Mutation_p.P70S	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	70					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGGCAGTATGCCTGTCCCCTA	0.607																																						uc001whf.1																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(208-210)Cct>Tct		Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.							39	45	43					14																	23353987		2078	4211	6289	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23353987C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.208C>T	14.37:g.23353987C>T	ENSP00000267396:p.Pro70Ser					REM2_uc010tnd.1_Missense_Mutation_p.P62S	p.P70S	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	1	273	+	all_cancers(95;4.69e-05)		70					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.208C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036022	0.93630	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.69175	-0.38;0.16	5.73	5.73	0.89815	.	0.115343	0.64402	D	0.000012	T	0.75620	0.3874	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76326	-0.3000	10	0.56958	D	0.05	.	18.6556	0.91452	0.0:1.0:0.0:0.0	.	70;70	B7Z5P1;Q8IYK8	.;REM2_HUMAN	S	70	ENSP00000267396:P70S;ENSP00000442774:P70S	ENSP00000267396:P70S	P	+	1	0	REM2	22423827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.415000	0.44635	2.713000	0.92767	0.655000	0.94253	CCT		0.607	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		T	23353987	C	T	23353987	3	4	278	1	0	0	0	0	1	0	0	0	13223	739	26	3	214	3	REM2	14	23353987	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		23353987	83995553	34	19925											
FMN1	342184	broad.mit.edu	37	chr15	33261062	33261062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcaagtcctgggggtGgtggagcaggaggaggccct	6	6	22	7	0	0	0	0	0	0	0	1	3	1	3	2	9	2	2	2	9	1	0	rs199798243	byFrequency	TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:33261062G>A	ENST00000559047.1	-	5	2839	c.2840C>T	c.(2839-2841)cCa>cTa	p.P947L	FMN1_ENST00000561249.1_Missense_Mutation_p.P849L|FMN1_ENST00000334528.9_Missense_Mutation_p.P724L|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	947	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTGGGGGTGGTGGAGCAGG	0.627													G|||	10	0.00199681	0	0	5008	,	,		4569	0.0099		0	False		,,,				2504	0					uc001zhf.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2170-2172)cCa>cTa		Homo sapiens formin 1 (FMN1), mRNA.							20	21	21					15																	33261062		1761	3957	5718	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261062G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2840C>T	15.37:g.33261062G>A	ENSP00000454047:p.Pro947Leu					SNORD77_uc021sip.1_5'Flank	p.P724L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	2171	-		all_lung(180;1.14e-07)	947			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2171C>T		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	0.227	-1.024404	0.02061	.	.	ENSG00000248905	ENST00000334528	D	0.87650	-2.28	4.21	2.25	0.28309	.	1.173830	0.06279	N	0.697133	T	0.70657	0.3249	N	0.19112	0.55	.	.	.	B	0.06786	0.001	B	0.13407	0.009	T	0.62072	-0.6931	9	0.15066	T	0.55	.	7.0154	0.24885	0.1002:0.1765:0.7233:0.0	.	724	Q68DA7-5	.	L	724	ENSP00000333950:P724L	ENSP00000333950:P724L	P	-	2	0	FMN1	31048354	0.991000	0.36638	0.032000	0.17829	0.092000	0.18411	5.304000	0.65744	0.387000	0.25024	-0.142000	0.14014	CCA		0.627	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		A	33261062	G	A	33261062	3	1	278	1	0	0	0	0	1	0	0	0	5949	1348	47	3	1475	3	FMN1	15	33261062	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		33261062	69270330	35	19926											
PLCB2	5330	broad.mit.edu	37	chr15	40590478	40590478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgataatgggctcctcGtcagggggtttccccttcca	5	12	13	11	1	1	1	1	1	0	0	5	1	4	1	4	4	0	2	4	4	1	3	rs375119309		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:40590478G>A	ENST00000260402.3	-	11	1350	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.D367D|PLCB2_ENST00000456256.2_Silent_p.D367D	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	367	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGGCTCCTCGTCAGGGGGTT	0.602																																						uc001zld.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1099-1101)gaC>gaT		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.		G		1,4237		0,1,2118	61	67	65		1101	-5.4	0.5	15		65	0,8542		0,0,4271	no	coding-synonymous	PLCB2	NM_004573.2		0,1,6389	AA,AG,GG		0.0,0.0236,0.0078		367/1186	40590478	1,12779	2119	4271	6390	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40590478G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1101C>T	15.37:g.40590478G>A						PLCB2_uc010bbo.3_Silent_p.D367D|PLCB2_uc010ucm.2_Silent_p.D367D	p.D367D	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	10	1402	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	367			PI-PLC X-box.		A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.1101C>T	CCDS42020.1																																																																																				0.602	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			A	40590478	G	A	40590478	2	1	278	1	0	0	0	0	0	0	0	1	12028	1136	40	1		1	PLCB2	15	40590478	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	7329416	40590478	61940914	36	19927											
IGF1R	3480	broad.mit.edu	37	chr15	99456497	99456497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagatcttgtacattcGcaccaatgcttcaggtatcc	10	12	9	10	1	2	1	1	1	1	1	4	3	3	1	2	1	2	4	2	1	3	5	rs45553041		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:99456497G>T	ENST00000268035.6	+	8	2425	c.1814G>T	c.(1813-1815)cGc>cTc	p.R605L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R605L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	605	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in dbSNP:rs45553041). {ECO:0000269|Ref.4}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TTGTACATTCGCACCAATGCT	0.532																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1813-1815)cGc>cTc		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						172	117	135					15																	99456497		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456497G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1814G>T	15.37:g.99456497G>T	ENSP00000268035:p.Arg605Leu					IGF1R_uc010urq.2_Missense_Mutation_p.R605L|IGF1R_uc010bon.3_Missense_Mutation_p.R605L|IGF1R_uc010urr.1_Missense_Mutation_p.R55L	p.R605L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		7	1864	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		605		R -> H (in dbSNP:rs45553041).	Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1814G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156419	0.78114	.	.	ENSG00000140443	ENST00000268035	T	0.70282	-0.47	4.59	4.59	0.56863	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.73845	0.3639	M	0.80982	2.52	0.80722	D	1	B;B	0.32382	0.368;0.147	B;B	0.31751	0.078;0.135	T	0.78453	-0.2198	10	0.72032	D	0.01	.	17.9418	0.89027	0.0:0.0:1.0:0.0	.	605;605	C9J5X1;P08069	.;IGF1R_HUMAN	L	605	ENSP00000268035:R605L	ENSP00000268035:R605L	R	+	2	0	IGF1R	97274020	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.718000	0.84743	2.527000	0.85204	0.563000	0.77884	CGC		0.532	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99456497	G	T	99456497	3	4	278	1	0	0	0	0	1	0	0	0	7571	1087	38	5	1844	5	IGF1R	15	99456497	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	58866019	99456497	3074895	37	19928											
TP53	7157	broad.mit.edu	37	chr17	7578518	7578518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcacagggcaggtcttggCcagttggcaaaacatcttgt	9	10	12	10	0	2	0	0	0	2	0	2	0	2	0	1	4	2	4	1	4	2	3	rs28934875		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:7578518C>T	ENST00000269305.4	-	5	601	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	TP53_ENST00000420246.2_Missense_Mutation_p.A138T|TP53_ENST00000359597.4_Missense_Mutation_p.A138T|TP53_ENST00000445888.2_Missense_Mutation_p.A138T|TP53_ENST00000455263.2_Missense_Mutation_p.A138T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.A138T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	138	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A138P(16)|p.0?(8)|p.A138fs*32(5)|p.A138_P142delAKTCP(4)|p.A138T(4)|p.C135fs*9(3)|p.A138fs*11(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A6_P10delAKTCP(1)|p.C3fs*9(1)|p.A138del(1)|p.A6P(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.A138S(1)|p.A45P(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGTCTTGGCCAGTTGGCAA	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		63	Substitution - Missense(23)|Deletion - Frameshift(15)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.A138P(30)|p.A138V(19)|p.A138fs*32(10)|p.A138T(10)|p.0?(8)|p.L137L(6)|p.A138_P142delAKTCP(6)|p.A138fs*11(6)|p.L137P(3)|p.C135fs*9(3)|p.A138fs*31(2)|p.L137_W146del10(2)|p.F134_T140>S(2)|p.L137M(2)|p.K132_A138delKMFCQLA(2)|p.A138_V143delAKTCPV(2)|p.A138del(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.L137Q(2)|p.C135_T140delCQLAKT(2)|p.A138S(2)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.L137V(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A6P(1)|p.C42fs*9(1)|p.A138A(1)|p.A45P(1)	breast(10)|ovary(9)|lung(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|urinary_tract(6)|bone(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|stomach(1)|soft_tissue(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942116|CM983475	TP53	M	rs28934875	c.(412-414)Gcc>Acc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							54	54	54					17																	7578518		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578518C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.412G>A	17.37:g.7578518C>T	ENSP00000269305:p.Ala138Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A138T|TP53_uc002gih.3_Missense_Mutation_p.A138T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A6T|TP53_uc010cnf.1_Missense_Mutation_p.A6T|TP53_uc002gii.1_Missense_Mutation_p.A6T|TP53_uc010cni.1_Missense_Mutation_p.A138T|TP53_uc010cnh.1_Missense_Mutation_p.A138T|TP53_uc002gij.2_Missense_Mutation_p.A138T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A45T|TP53_uc002gio.2_Missense_Mutation_p.A6T|TP53_uc010vug.2_Missense_Mutation_p.A99T	p.A138T	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	606	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	138		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.412G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005961	0.93287	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.98;0.998;0.96;0.998;0.998;0.999;1.0	D;D;P;D;D;D;D	0.91635	0.959;0.99;0.595;0.954;0.994;0.992;0.999	D	0.96621	0.9459	10	0.87932	D	0	-15.6629	17.2272	0.86973	0.0:1.0:0.0:0.0	.	99;138;138;45;138;138;138	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	138;138;138;138;138;138;127;45;6;45;6;138	ENSP00000410739:A138T;ENSP00000352610:A138T;ENSP00000269305:A138T;ENSP00000398846:A138T;ENSP00000391127:A138T;ENSP00000391478:A138T;ENSP00000425104:A6T;ENSP00000423862:A45T;ENSP00000424104:A138T	ENSP00000269305:A138T	A	-	1	0	TP53	7519243	1.000000	0.71417	0.999000	0.59377	0.516000	0.34256	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	GCC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578518	C	T	7578518	3	4	278	1	0	0	0	0	1	0	0	0	16378	739	26	3	886	3	TP53	17	7578518	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		7578518	73616692	38	19929											
ABI3	51225	broad.mit.edu	37	chr17	47297534	47297534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctctctggtgttcagcagCgccgaaggtgtcggtggggc	4	9	18	10	3	2	0	1	0	1	0	4	1	2	0	1	6	2	3	1	6	1	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:47297534C>T	ENST00000225941.1	+	6	1146	c.648C>T	c.(646-648)agC>agT	p.S216S	ABI3_ENST00000419580.2_Silent_p.S210S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	216					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGTTCAGCAGCGCCGAAGGTG	0.692										HNSCC(55;0.14)																												uc002iop.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12						c.(646-648)agC>agT		Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.							32	35	34					17																	47297534		2203	4300	6503	SO:0001819	synonymous_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47297534C>T	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.648C>T	17.37:g.47297534C>T		HNSCC(55;0.14)				ABI3_uc002ioq.1_Silent_p.S210S	p.S216S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		5	1146	+			216					C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	c.648C>T	CCDS11546.1																																																																																				0.692	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		T	47297534	C	T	47297534	2	4	278	1	0	0	0	0	0	0	0	1	90	767	27	1		1	ABI3	17	47297534	Silent	SNP	C	TCGA-76-6662-01A-11D-1845-08	39719016	47297534	33897676	39	19930											
DNAH17	8632	broad.mit.edu	37	chr17	76459049	76459049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgctccagaaaggttttGggtgtggtgtagttgtagcg	7	14	15	5	1	1	1	0	0	1	1	2	1	2	1	1	3	2	5	1	3	3	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:76459049G>A	ENST00000585328.1	-	57	9160	c.9036C>T	c.(9034-9036)ccC>ccT	p.P3012P	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.P3003P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3003					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGGTTTTGGGTGTGGTGT	0.522																																						uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9049-9051)ccC>ccT		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							169	142	151					17																	76459049		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76459049G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9036C>T	17.37:g.76459049G>A						DNAH17_uc002jvs.3_Non-coding_Transcript	p.P3017P	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		56	9176	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9051C>T																																																																																					0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76459049	G	A	76459049	2	1	278	1	0	0	0	0	0	0	0	1	4601	1335	47	3		3	DNAH17	17	76459049	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	29161515	76459049	4736161	40	19931											
TBCD	6904	broad.mit.edu	37	chr17	80858560	80858560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcctgagtacacgcaGccaatgatagaccacctggt	10	9	10	12	1	0	3	0	2	0	1	1	3	1	3	4	2	2	3	4	2	3	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:80858560G>A	ENST00000355528.4	+	18	1813	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	TBCD_ENST00000397466.2_Silent_p.Q175Q|TBCD_ENST00000539345.2_Silent_p.Q561Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	561					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTACACGCAGCCAATGATAG	0.493																																						uc002kfy.1																			0											c.(1681-1683)caG>caA		Homo sapiens tubulin folding cofactor D (TBCD), mRNA.							159	153	155					17																	80858560		1975	4157	6132	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80858560G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1683G>A	17.37:g.80858560G>A						TBCD_uc002kfx.1_Silent_p.Q544Q|TBCD_uc002kfz.3_Silent_p.Q561Q|TBCD_uc002kgb.1_5'UTR	p.Q561Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		17	1813	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	561					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1683G>A	CCDS45818.1																																																																																				0.493	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		A	80858560	G	A	80858560	2	1	278	1	0	0	0	0	0	0	0	1	15630	962	34	3		3	TBCD	17	80858560	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	4399511	80858560	336650	41	19932											
ICAM1	3383	broad.mit.edu	37	chr19	10395175	10395175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctagagccaaggtgaCgctgaatggggttccagccc	9	6	12	14	1	0	3	0	2	0	1	1	3	1	3	5	3	2	2	5	3	3	2	rs141326678		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:10395175C>T	ENST00000264832.3	+	5	1347	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.T119M	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	341	Ig-like C2-type 4.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GCCAAGGTGACGCTGAATGGG	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		13138	0		0	False		,,,				2504	0					uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1021-1023)aCg>aTg		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)	C	MET/THR	0,4404		0,0,2202	49	58	55		1022	-6.7	0	19	dbSNP_134	55	1,8591		0,1,4295	yes	missense	ICAM1	NM_000201.2	81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	341/533	10395175	1,12995	2202	4296	6498	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395175C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1022C>T	19.37:g.10395175C>T	ENSP00000264832:p.Thr341Met					ICAM1_uc010xle.1_Missense_Mutation_p.T119M|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	p.T341M	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1341	+			341			Ig-like C2-type 4.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.1022C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942805	0.18281	0.0	1.16E-4	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.07444	3.19;3.19	4.1	-6.7	0.01766	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.504230	0.01879	N	0.037703	T	0.04998	0.0134	L	0.35341	1.055	0.09310	N	1	P;P	0.41393	0.748;0.532	B;B	0.32805	0.153;0.137	T	0.33343	-0.9872	10	0.46703	T	0.11	-3.2469	4.0359	0.09729	0.3461:0.3053:0.0:0.3486	.	119;341	E7ESS4;P05362	.;ICAM1_HUMAN	M	341;119	ENSP00000264832:T341M;ENSP00000413124:T119M	ENSP00000264832:T341M	T	+	2	0	ICAM1	10256175	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.059000	0.01393	-1.216000	0.02607	-1.478000	0.00992	ACG		0.642	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			T	10395175	C	T	10395175	3	4	278	1	0	0	0	0	1	0	0	0	7479	536	19	1	1040	1	ICAM1	19	10395175	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		10395175	48733808	42	19933											
SCN1B	6324	broad.mit.edu	37	chr19	35523525	35523525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcatctcctgcaagcGccgcagcgagaccaacgctg	8	8	10	15	4	2	1	0	0	2	1	3	2	2	1	3	0	5	4	3	0	2	1	rs180943300		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:35523525G>A	ENST00000262631.5	+	2	271	c.134G>A	c.(133-135)cGc>cAc	p.R45H	SCN1B_ENST00000415950.3_Missense_Mutation_p.R45H|SCN1B_ENST00000595652.1_Missense_Mutation_p.R45H|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	45	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTGCAAGCGCCGCAGCGAG	0.622													G|||	1	0.000199681	0	0.0014	5008	,	,		19806	0		0	False		,,,				2504	0					uc002nxo.2																			0		p.R45C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(133-135)cGc>cAc		Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.							144	136	139					19																	35523525		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523525G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.134G>A	19.37:g.35523525G>A	ENSP00000262631:p.Arg45His					SCN1B_uc002nxp.3_Missense_Mutation_p.R45H|SCN1B_uc010xsg.2_Missense_Mutation_p.R45H	p.R45H	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		1	267	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		45			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.134G>A	CCDS12441.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.93	2.085877	0.36758	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.94376	-3.41;-3.41	3.82	2.78	0.32641	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.247932	0.31847	N	0.006961	D	0.92593	0.7647	L	0.34521	1.04	0.31316	N	0.686594	D;D;D	0.76494	0.998;0.999;0.999	D;P;D	0.69824	0.962;0.886;0.966	D	0.89288	0.3617	10	0.42905	T	0.14	-25.1532	7.0817	0.25235	0.1246:0.0:0.8754:0.0	.	45;45;45	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	H	45	ENSP00000262631:R45H;ENSP00000396915:R45H	ENSP00000262631:R45H	R	+	2	0	SCN1B	40215365	0.827000	0.29292	0.909000	0.35828	0.013000	0.08279	1.153000	0.31676	0.825000	0.34637	-0.251000	0.11542	CGC		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			A	35523525	G	A	35523525	3	1	278	1	0	0	0	0	1	0	0	0	13915	1087	38	1	140	1	SCN1B	19	35523525	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	25128350	35523525	23605458	43	19934											
SPTBN4	57731	broad.mit.edu	37	chr19	41063199	41063199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacagattgaggagaagCggaggcggctgccccgcctg	9	4	18	10	3	0	3	0	1	0	2	0	6	0	5	3	5	2	1	3	5	1	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:41063199C>T	ENST00000352632.3	+	26	5646	c.5560C>T	c.(5560-5562)Cgg>Tgg	p.R1854W	SPTBN4_ENST00000392023.1_Missense_Mutation_p.R530W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1854W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1854W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1854W|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R597W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1854					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGAGAAGCGGAGGCGGCT	0.647																																						uc002ony.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5560-5562)Cgg>Tgg		Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.							27	31	30					19																	41063199		2195	4290	6485	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063199C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5560C>T	19.37:g.41063199C>T	ENSP00000263373:p.Arg1854Trp					SPTBN4_uc002onx.3_Missense_Mutation_p.R1854W|SPTBN4_uc002onz.3_Missense_Mutation_p.R1854W|SPTBN4_uc010egx.3_Missense_Mutation_p.R597W|SPTBN4_uc002ooa.3_Missense_Mutation_p.R530W	p.R1854W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	5646	+			1854					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5560C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347732	0.61183	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	3.63	1.31	0.21738	.	0.206139	0.32935	N	0.005473	T	0.40040	0.1101	N	0.19112	0.55	0.34409	D	0.696102	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.73708	0.954;0.913;0.965;0.981	T	0.52939	-0.8508	10	0.72032	D	0.01	.	10.579	0.45244	0.6436:0.3564:0.0:0.0	.	597;530;1854;1854	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	W	1854;1854;1854;597;530	ENSP00000263373:R1854W;ENSP00000340345:R1854W;ENSP00000375879:R597W;ENSP00000375877:R530W	ENSP00000340345:R1854W	R	+	1	2	SPTBN4	45755039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.812000	0.47994	0.287000	0.22375	0.455000	0.32223	CGG		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41063199	C	T	41063199	3	4	278	1	0	0	0	0	1	0	0	0	15120	759	27	1	5658	1	SPTBN4	19	41063199	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	5539674	41063199	18065784	44	19935											
KLK6	5653	broad.mit.edu	37	chr19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgggcgtgccaggCgcaacagcatgatgtcctgg	6	9	16	10	2	0	1	0	1	0	0	1	1	1	1	2	4	3	4	2	4	1	1	rs553226234		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:51466671C>T	ENST00000376851.3	-	4	771	c.332G>A	c.(331-333)cGc>cAc	p.R111H	KLK6_ENST00000376853.4_Intron|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Missense_Mutation_p.R111H|KLK6_ENST00000310157.2_Missense_Mutation_p.R111H|KLK6_ENST00000456750.2_Missense_Mutation_p.R4H|KLK6_ENST00000391808.1_Missense_Mutation_p.R4H	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													C|||	1	0.000199681	0	0	5008	,	,		19571	0		0	False		,,,				2504	0.001					uc002puh.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(358-360)cGc>cAc		Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.							90	64	73					19																	51466671		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466671C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.332G>A	19.37:g.51466671C>T	ENSP00000366047:p.Arg111His					KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	p.R120H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	2	424	-		all_neural(266;0.026)	111			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.359G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	16.24	3.066532	0.55539	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.69	-0.0942	0.13646	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	T	0.80747	0.4682	M	0.63843	1.955	0.09310	N	1	P;B	0.35959	0.53;0.014	B;B	0.26202	0.067;0.002	T	0.71189	-0.4666	10	0.51188	T	0.08	.	3.6265	0.08114	0.1695:0.4454:0.0:0.3851	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	H	111;111;4;4	ENSP00000309148:R111H;ENSP00000366047:R111H;ENSP00000375684:R4H;ENSP00000409241:R4H	ENSP00000309148:R111H	R	-	2	0	KLK6	56158483	0.093000	0.21703	0.396000	0.26296	0.892000	0.51952	0.379000	0.20585	0.178000	0.19917	0.486000	0.48141	CGC		0.617	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		T	51466671	C	T	51466671	3	4	278	1	0	0	0	0	1	0	0	0	8408	768	27	1	414	1	KLK6	19	51466671	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	10403472	51466671	7662312	45	19936											
LILRA5	353514	broad.mit.edu	37	chr19	54822924	54822924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacactggagggtcaCgttctctcctgaggtcacca	8	9	11	13	1	3	2	2	2	1	0	5	3	4	3	3	3	1	1	3	3	0	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:54822924C>T	ENST00000301219.3	-	5	591	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	LILRA5_ENST00000346508.3_Missense_Mutation_p.V146M|LILRA5_ENST00000432233.3_Missense_Mutation_p.V158M|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.V146M	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	158	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGGTCACGTTCTCTCCT	0.572																																						uc002qfe.3																			0		p.N157D(1)|p.N157N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(472-474)Gtg>Atg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.							80	79	80					19																	54822924		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822924C>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.472G>A	19.37:g.54822924C>T	ENSP00000301219:p.Val158Met					LILRA5_uc002qff.3_Missense_Mutation_p.V146M|LILRA5_uc010yev.2_Missense_Mutation_p.V158M|LILRA5_uc010yew.2_Missense_Mutation_p.V146M|LILRA5_uc002qfg.1_Missense_Mutation_p.V158M|LILRA5_uc002qfh.1_Missense_Mutation_p.V146M	p.V158M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	592	-	Ovarian(34;0.19)		158			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.472G>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.973033	0.34848	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.01215	5.16;5.16;5.16;5.16	3.14	-5.12	0.02893	Immunoglobulin-like fold (1);	0.449133	0.16172	N	0.226238	T	0.03520	0.0101	M	0.81112	2.525	0.09310	N	1	D;D;D;P	0.89917	0.998;0.998;1.0;0.854	P;P;D;B	0.63113	0.584;0.519;0.911;0.268	T	0.00967	-1.1497	10	0.54805	T	0.06	.	5.4183	0.16386	0.0:0.3701:0.1469:0.483	.	146;158;146;158	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	M	158;146;146;158	ENSP00000301219:V158M;ENSP00000302948:V146M;ENSP00000389499:V146M;ENSP00000404236:V158M	ENSP00000301219:V158M	V	-	1	0	LILRA5	59514736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.395000	0.07287	-1.187000	0.02709	-2.553000	0.00177	GTG		0.572	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		T	54822924	C	T	54822924	3	4	278	1	0	0	0	0	1	0	0	0	8788	536	19	1	525	1	LILRA5	19	54822924	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	3356253	54822924	4306059	46	19937											
SIRPB1	10326	broad.mit.edu	37	chr20	1552398	1552398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaagttggcagtcccaCgaagagggtccccctgcaag	11	5	12	13	1	0	2	0	0	0	2	2	3	2	2	3	2	1	3	3	2	3	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:1552398C>T	ENST00000381605.4	-	3	783	c.719G>A	c.(718-720)cGt>cAt	p.R240H	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	240	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622																																						uc010gai.3																			0		p.R240C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(718-720)cGt>cAt		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							102	92	95					20																	1552398		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552398C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.719G>A	20.37:g.1552398C>T	ENSP00000371018:p.Arg240His					SIRPB1_uc002wfk.4_Intron	p.R240H	NM_006065	NP_006056	O00241	SIRB1_HUMAN			2	818	-			240			Ig-like C1-type 1.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.719G>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.430806	0.25726	.	.	ENSG00000101307	ENST00000381605	T	0.02763	4.17	2.47	1.5	0.22942	Immunoglobulin-like (1);	0.229512	0.29205	N	0.012832	T	0.04724	0.0128	M	0.85197	2.74	0.54753	D	0.999986	B	0.27932	0.194	B	0.23419	0.046	T	0.15809	-1.0424	10	0.48119	T	0.1	.	4.4833	0.11778	0.0:0.8088:0.0:0.1912	.	240	O00241	SIRB1_HUMAN	H	240	ENSP00000371018:R240H	ENSP00000371018:R240H	R	-	2	0	SIRPB1	1500398	0.000000	0.05858	0.969000	0.41365	0.503000	0.33858	-0.141000	0.10327	1.395000	0.46643	0.456000	0.33151	CGT		0.622	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1552398	C	T	1552398	3	4	278	1	0	0	0	0	1	0	0	0	14333	536	19	1	489	1	SIRPB1	20	1552398	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		1552398	61473122	47	19938											
KDM6A	7403	broad.mit.edu	37	chrX	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															aggagccgtggaaaaaccaaCtatctaactccactcaggta																								rs398122969		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:44923045_44923048delCTAT	ENST00000377967.4	+	16	1947_1950	c.1906_1909delCTAT	c.(1906-1911)ctatctfs	p.LS636fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	636	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	uc011mkz.2				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2062-2067)ctatctfs		Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44923045_44923048delCTAT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1906_1909delCTAT	X.37:g.44923045_44923048delCTAT	ENSP00000367203:p.Leu636fs					KDM6A_uc022bvi.1_Frame_Shift_Del_p.L306fs|KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.L636fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.L340fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.L557fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.L275fs	p.L688fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2437_2440	+			636					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.2062_2065delCTAT	CCDS14265.1																																																																																				0.446	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44923048	CTAT	-	44923045	7	5	278	1	0	1	0	1	0	0	0	0	8137	564	20	0	1968	0	KDM6A	23	44923045	Frame_Shift_Del	DEL	CTAT	TCGA-76-6662-01A-11D-1845-08		44923045	110347515	48	19939											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883501	26883501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgcagaagctataccgtCgtgagatcaagccacccttc	10	9	9	13	2	1	2	1	1	0	2	3	3	1	2	3	0	4	2	3	0	4	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:26883501C>T	ENST00000374168.2	+	13	1148	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R341C|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R240C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R240C|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R316C|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R321C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	332	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCTATACCGTCGTGAGATCAA	0.597																																						uc001bmr.1																			0				lung(1)	1						c.(994-996)Cgt>Tgt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.							216	152	174					1																	26883501		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26883501C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.994C>T	1.37:g.26883501C>T	ENSP00000363283:p.Arg332Cys					RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240C|RPS6KA1_uc010off.1_Missense_Mutation_p.R316C|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175C	p.R332C	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	12	1157	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	332			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.994C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153999	0.78114	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.49	5.49	0.81192	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.049164	0.85682	D	0.000000	T	0.76227	0.3958	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	P;D;P	0.65323	0.895;0.934;0.595	T	0.81745	-0.0792	10	0.87932	D	0	.	14.1416	0.65322	0.187:0.813:0.0:0.0	.	316;341;332	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	C	332;321;240;240;316;52;341	ENSP00000363283:R332C;ENSP00000363281:R321C;ENSP00000431651:R240C;ENSP00000363277:R240C;ENSP00000432281:R316C;ENSP00000435412:R341C	ENSP00000363277:R240C	R	+	1	0	RPS6KA1	26756088	0.991000	0.36638	0.988000	0.46212	0.952000	0.60782	2.932000	0.48940	2.590000	0.87494	0.655000	0.94253	CGT		0.597	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		T	26883501	C	T	26883501	3	4	279	1	0	0	0	0	1	0	0	0	13650	884	31	2	1183	2	RPS6KA1	1	26883501	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		26883501	222367120	1	19940											
SFPQ	6421	broad.mit.edu	37	chr1	35656550	35656550	+	Frame_Shift_Del	DEL	G	G	-																															gctgtctacctctcatgggtGtatcatccagttcggctttg																										TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:35656550delG	ENST00000357214.5	-	3	1162	c.1064delC	c.(1063-1065)acafs	p.T355fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	355	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTCATGGGTGTATCATCCAG	0.438			T	TFE3	papillary renal cell																																	uc001bys.3				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1063-1065)acafs		Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.							52	53	53					1																	35656550		2203	4300	6503	SO:0001589	frameshift_variant	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35656550delG	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1064delC	1.37:g.35656550delG	ENSP00000349748:p.Thr355fs						p.T355fs	NM_005066	NP_005057	P23246	SFPQ_HUMAN			2	1157	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	355			RRM 1.		P30808|Q5SZ71	Frame_Shift_Del	DEL	ENST00000357214.5	37	c.1064delC	CCDS388.1																																																																																				0.438	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		-	35656550	G	-	35656550	7	5	279	1	0	1	0	1	0	0	0	0	14160	1377	48	0	1091	0	SFPQ	1	35656550	Frame_Shift_Del	DEL	G	TCGA-76-6663-01A-11D-1845-08	8773049	35656550	213594071	2	19941											
CLDN19	149461	broad.mit.edu	37	chr1	43201615	43201615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggtctctctggctccGggcatgtgcagcagaggaag	6	10	16	9	1	2	1	0	0	2	1	4	2	3	2	1	4	2	5	1	4	1	1	rs531931336	byFrequency	TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:43201615G>A	ENST00000296387.1	-	4	750	c.560C>T	c.(559-561)cCg>cTg	p.P187L	CLDN19_ENST00000372539.3_Missense_Mutation_p.P187L|CLDN19_ENST00000539749.1_Missense_Mutation_p.R159W	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	187					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGCTCCGGGCATGTGCA	0.677													g|||	2	0.000399361	0	0	5008	,	,		16487	0		0.002	False		,,,				2504	0					uc001cht.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(559-561)cCg>cTg		Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.																																				SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43201615G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"Claudins"	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.560C>T	1.37:g.43201615G>A	ENSP00000296387:p.Pro187Leu					CLDN19_uc001chu.2_Missense_Mutation_p.P187L|CLDN19_uc010ojv.1_Missense_Mutation_p.R159W	p.P187L	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN			3	751	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	187					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.560C>T	CCDS471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.14|17.14	3.312395|3.312395	0.60414|0.60414	.|.	.|.	ENSG00000164007|ENSG00000164007	ENST00000296387;ENST00000372539|ENST00000539749	D;D|D	0.91011|0.87256	-2.77;-2.76|-2.23	4.31|4.31	3.39|3.39	0.38822|0.38822	.|.	0.111323|.	0.64402|.	D|.	0.000006|.	T|T	0.75997|0.75997	0.3926|0.3926	N|N	0.08118|0.08118	0|0	0.44352|0.44352	D|D	0.997241|0.997241	D;D|D	0.65815|0.56968	0.995;0.991|0.978	P;P|B	0.55303|0.43916	0.773;0.598|0.436	T|T	0.78819|0.78819	-0.2054|-0.2054	10|9	0.62326|0.87932	D|D	0.03|0	.|.	11.416|11.416	0.49951|0.49951	0.0:0.0:0.8187:0.1813|0.0:0.0:0.8187:0.1813	.|.	187;187|159	Q8N6F1-2;Q8N6F1|F5H5P9	.;CLD19_HUMAN|.	L|W	187|159	ENSP00000296387:P187L;ENSP00000361617:P187L|ENSP00000443229:R159W	ENSP00000296387:P187L|ENSP00000443229:R159W	P|R	-|-	2|1	0|2	CLDN19|CLDN19	42974202|42974202	1.000000|1.000000	0.71417|0.71417	0.606000|0.606000	0.28943|0.28943	0.630000|0.630000	0.37929|0.37929	6.114000|6.114000	0.71560|0.71560	1.024000|1.024000	0.39682|0.39682	0.457000|0.457000	0.33378|0.33378	CCG|CGG		0.677	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		A	43201615	G	A	43201615	3	1	279	1	0	0	0	0	1	0	0	0	3480	1116	39	2	238	2	CLDN19	1	43201615	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	7545065	43201615	206049006	3	19942											
CLCA1	1179	broad.mit.edu	37	chr1	86952277	86952277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagacagttgagctgggGtcctgggttgggatggtgac	6	10	18	7	0	0	3	0	2	0	1	1	4	1	4	1	5	2	4	1	5	0	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:86952277G>A	ENST00000234701.3	+	8	1374	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	CLCA1_ENST00000394711.1_Silent_p.G341G			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	341	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGAGCTGGGGTCCTGGGTTG	0.478																																						uc001dlt.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1021-1023)ggG>ggA		Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.							133	124	127					1																	86952277		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86952277G>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1023G>A	1.37:g.86952277G>A						CLCA1_uc001dls.1_Silent_p.G280G	p.G341G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	6	1283	+		Lung NSC(277;0.239)	341			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1023G>A	CCDS709.1																																																																																				0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		A	86952277	G	A	86952277	2	1	279	1	0	0	0	0	0	0	0	1	3457	1248	44	3		3	CLCA1	1	86952277	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	43750662	86952277	162298344	4	19943											
CLCA4	22802	broad.mit.edu	37	chr1	87045055	87045055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaattgaagcaaaccCgccaagacctgaaattgatg	16	6	11	8	1	0	4	0	3	0	1	0	5	0	5	3	2	2	1	3	2	5	2	rs372729622		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:87045055C>T	ENST00000370563.3	+	13	2183	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	714					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GAAGCAAACCCGCCAAGACCT	0.428																																						uc009wcs.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2140-2142)cCg>cTg		Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.		C	LEU/PRO	1,3735		0,1,1867	65	65	65		2141	4.6	0.7	1		65	0,8208		0,0,4104	no	missense	CLCA4	NM_012128.3	98	0,1,5971	TT,TC,CC		0.0,0.0268,0.0084	possibly-damaging	714/920	87045055	1,11943	1868	4104	5972	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87045055C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2141C>T	1.37:g.87045055C>T	ENSP00000359594:p.Pro714Leu					CLCA4_uc009wct.3_Missense_Mutation_p.P477L|CLCA4_uc009wcu.3_Missense_Mutation_p.P534L	p.P714L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	12	2185	+		Lung NSC(277;0.238)	714					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.2141C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196665	0.79015	2.68E-4	0.0	ENSG00000016602	ENST00000370563	T	0.03004	4.08	5.54	4.61	0.57282	.	0.358156	0.24271	N	0.039995	T	0.10809	0.0264	M	0.83603	2.65	0.46396	D	0.999025	D;D	0.76494	0.999;0.997	P;P	0.61722	0.893;0.893	T	0.01334	-1.1382	10	0.72032	D	0.01	-7.9176	15.2312	0.73390	0.1418:0.8582:0.0:0.0	.	266;714	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	L	714	ENSP00000359594:P714L	ENSP00000359594:P714L	P	+	2	0	CLCA4	86817643	0.369000	0.25039	0.672000	0.29872	0.977000	0.68977	1.558000	0.36309	1.285000	0.44548	0.655000	0.94253	CCG		0.428	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		T	87045055	C	T	87045055	3	4	279	1	0	0	0	0	1	0	0	0	3459	652	23	2	2191	2	CLCA4	1	87045055	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	92778	87045055	162205566	5	19944											
SPTA1	6708	broad.mit.edu	37	chr1	158651339	158651339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccaatccactctaagAtgtcagcacactcctgtaca	11	11	5	14	0	3	1	1	0	2	1	6	1	5	1	3	0	2	2	3	0	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:158651339A>G	ENST00000368147.4	-	4	689	c.509T>C	c.(508-510)aTc>aCc	p.I170T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	170					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACTCTAAGATGTCAGCACA	0.537																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(508-510)aTc>aCc		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							270	270	270					1																	158651339		2031	4185	6216	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651339A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.509T>C	1.37:g.158651339A>G	ENSP00000357129:p.Ile170Thr						p.I170T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			3	708	-	all_hematologic(112;0.0378)		170					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.509T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816592	0.70912	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52754	0.65;0.65	5.15	5.15	0.70609	.	.	.	.	.	T	0.41465	0.1160	L	0.59436	1.845	0.44462	D	0.997396	P	0.41569	0.755	P	0.46208	0.507	T	0.43540	-0.9385	9	0.52906	T	0.07	.	13.9639	0.64196	1.0:0.0:0.0:0.0	.	170	P02549	SPTA1_HUMAN	T	170	ENSP00000357130:I170T;ENSP00000357129:I170T	ENSP00000357129:I170T	I	-	2	0	SPTA1	156917963	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.515000	0.67049	2.155000	0.67459	0.460000	0.39030	ATC		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158651339	A	G	158651339	3	3	279	1	0	0	0	0	1	0	0	0	15115	333	12	4	6946	4	SPTA1	1	158651339	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	71606284	158651339	90599282	6	19945											
PTPN14	5784	broad.mit.edu	37	chr1	214575057	214575057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatttcctgtccaaatcCatccaaacgttcaacttcat	13	12	4	12	1	2	1	2	0	0	1	6	2	6	1	4	0	2	1	4	0	4	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:214575057C>T	ENST00000366956.5	-	7	834	c.640G>A	c.(640-642)Gga>Aga	p.G214R	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	214	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTCCAAATCCATCCAAACGT	0.423																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(640-642)Gga>Aga		Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.							194	191	192					1																	214575057		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214575057C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.640G>A	1.37:g.214575057C>T	ENSP00000355923:p.Gly214Arg					PTPN14_uc021piy.1_Intron|PTPN14_uc010pty.2_Missense_Mutation_p.G115R	p.G214R	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	6	1293	-			214			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.640G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660212	0.88154	.	.	ENSG00000152104	ENST00000366956	D	0.82344	-1.6	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92443	0.5963	10	0.66056	D	0.02	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	214	Q15678	PTN14_HUMAN	R	214	ENSP00000355923:G214R	ENSP00000355923:G214R	G	-	1	0	PTPN14	212641680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.206000	0.72154	2.469000	0.83416	0.557000	0.71058	GGA		0.423	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		T	214575057	C	T	214575057	3	4	279	1	0	0	0	0	1	0	0	0	12783	603	21	3	2975	3	PTPN14	1	214575057	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	55923718	214575057	34675564	7	19946											
SIPA1L2	57568	broad.mit.edu	37	chr1	232619633	232619633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaagctggtcccgccGtctcattgttatacatctct	8	14	6	13	2	3	0	2	0	2	0	6	0	4	0	2	1	2	2	2	1	4	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:232619633G>A	ENST00000366630.1	-	5	2244	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T629M			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	629	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.T629M(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGTCCCGCCGTCTCATTGTT	0.448																																						uc001hvg.3																			1	Substitution - Missense(1)	p.T629M(2)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1885-1887)aCg>aTg		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							111	106	108					1																	232619633		1915	4155	6070	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232619633G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1886C>T	1.37:g.232619633G>A	ENSP00000355589:p.Thr629Met						p.T629M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			3	2044	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	629			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1886C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683403	0.47991	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93953	-3.32;-3.32	5.65	5.65	0.86999	Rap/ran-GAP (2);	0.098719	0.64402	D	0.000002	D	0.90896	0.7139	L	0.55213	1.73	0.42362	D	0.992411	B	0.19583	0.037	B	0.17098	0.017	D	0.86566	0.1844	10	0.42905	T	0.14	-23.8241	13.5198	0.61561	0.0795:0.0:0.9205:0.0	.	629	Q9P2F8	SI1L2_HUMAN	M	629	ENSP00000355589:T629M;ENSP00000262861:T629M	ENSP00000262861:T629M	T	-	2	0	SIPA1L2	230686256	0.996000	0.38824	0.982000	0.44146	0.987000	0.75469	2.590000	0.46154	2.941000	0.99782	0.655000	0.94253	ACG		0.448	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232619633	G	A	232619633	3	1	279	1	0	0	0	0	1	0	0	0	14330	1145	40	1	3354	1	SIPA1L2	1	232619633	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	18044576	232619633	16630988	8	19947											
OR2M2	391194	broad.mit.edu	37	chr1	248344248	248344248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctcataaactttatgttTtgctgtttgctaaattcttc	9	20	4	8	0	2	0	1	0	1	0	3	0	2	0	1	0	4	4	1	0	6	10			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:248344248T>A	ENST00000359682.2	+	1	961	c.961T>A	c.(961-963)Ttg>Atg	p.L321M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTTATGTTTTGCTGTTTGC	0.373																																						uc010pzf.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(961-963)Ttg>Atg		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.							210	217	215					1																	248344248		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344248T>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.961T>A	1.37:g.248344248T>A	ENSP00000352710:p.Leu321Met						p.L321M	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	961	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		321					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.961T>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	7.361	0.624804	0.14193	.	.	ENSG00000198601	ENST00000359682	T	0.21543	2.0	1.37	1.37	0.22104	.	.	.	.	.	T	0.12050	0.0293	L	0.27053	0.805	0.09310	N	1	B	0.31910	0.346	B	0.23275	0.045	T	0.19353	-1.0308	9	0.49607	T	0.09	.	6.5093	0.22212	0.0:0.0:0.0:1.0	.	321	Q96R28	OR2M2_HUMAN	M	321	ENSP00000352710:L321M	ENSP00000352710:L321M	L	+	1	2	OR2M2	246410871	0.149000	0.22717	0.002000	0.10522	0.004000	0.04260	-0.993000	0.03720	0.616000	0.30141	0.155000	0.16302	TTG		0.373	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		A	248344248	T	A	248344248	3	1	279	1	0	0	0	0	1	0	0	0	11010	1838	64	5	963	5	OR2M2	1	248344248	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	15724615	248344248	906373	9	19948											
PXDN	7837	broad.mit.edu	37	chr2	1652977	1652977	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggggggatcatgacagAgaagcagggggggtcgttgc	9	7	20	5	1	1	2	1	1	0	1	2	4	1	3	0	6	2	2	0	6	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:1652977A>C	ENST00000252804.4	-	17	2625	c.2575T>G	c.(2575-2577)Tct>Gct	p.S859A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	859					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCATGACAGAGAAGCAGGGG	0.667																																						uc002qxa.3																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2575-2577)Tct>Gct		Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.							19	22	21					2																	1652977		2147	4248	6395	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652977A>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2575T>G	2.37:g.1652977A>C	ENSP00000252804:p.Ser859Ala						p.S859A	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	16	2639	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	859					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2575T>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074874	0.55646	.	.	ENSG00000130508	ENST00000252804	T	0.68331	-0.32	5.36	5.36	0.76844	.	0.067419	0.64402	D	0.000007	T	0.57198	0.2037	L	0.33485	1.01	0.44439	D	0.997362	P	0.37207	0.587	B	0.39935	0.314	T	0.61739	-0.7001	10	0.62326	D	0.03	-27.7575	10.1204	0.42616	0.9249:0.0:0.0751:0.0	.	859	Q92626	PXDN_HUMAN	A	859	ENSP00000252804:S859A	ENSP00000252804:S859A	S	-	1	0	PXDN	1631984	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	5.978000	0.70501	2.167000	0.68274	0.456000	0.33151	TCT		0.667	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		C	1652977	A	C	1652977	3	2	279	1	0	0	0	0	1	0	0	0	12847	304	11	5	1892	5	PXDN	2	1652977	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08		1652977	241546396	10	19949											
TTN	7273	broad.mit.edu	37	chr2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcgaatgagttttcccttCgtcttgcattgagaccgacc	8	13	9	11	3	1	2	0	2	1	1	4	6	2	2	3	0	1	2	3	0	1	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179496982C>T	ENST00000591111.1	-	186	38940	c.38716G>A	c.(38716-38718)Gaa>Aaa	p.E12906K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14547K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5674K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5607K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5482K|TTN_ENST00000342992.6_Missense_Mutation_p.E11979K			Q8WZ42	TITIN_HUMAN	titin	12906					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCCCTTCGTCTTGCATT	0.433																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35935-35937)Gaa>Aaa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							124	113	117					2																	179496982		1943	4155	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179496982C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38716G>A	2.37:g.179496982C>T	ENSP00000465570:p.Glu12906Lys					MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5674K|TTN_uc021vta.1_Missense_Mutation_p.E5607K|TTN_uc021vtb.1_Missense_Mutation_p.E5482K	p.E11979K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	36160	-			12906			Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35935G>A		.	.	.	.	.	.	.	.	.	.	C	13.35	2.210799	0.39102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74951	0.3784	L	0.45698	1.435	0.49798	D	0.999829	B;B;B;B	0.33807	0.426;0.426;0.426;0.426	B;B;B;B	0.31245	0.126;0.126;0.126;0.126	T	0.75288	-0.3370	9	0.87932	D	0	.	20.4116	0.99017	0.0:1.0:0.0:0.0	.	5482;5607;5674;12906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11979;5482;5674;5607;5482	ENSP00000343764:E11979K;ENSP00000434586:E5482K;ENSP00000340554:E5674K;ENSP00000352154:E5607K	ENSP00000340554:E5674K	E	-	1	0	TTN	179205227	0.998000	0.40836	0.967000	0.41034	0.278000	0.26855	3.874000	0.56101	2.827000	0.97445	0.655000	0.94253	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179496982	C	T	179496982	3	4	279	1	0	0	0	0	1	0	0	0	16732	893	31	2	64562	2	TTN	2	179496982	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	177844005	179496982	63702391	11	19950											
TTN	7273	broad.mit.edu	37	chr2	179497281	179497281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtttgccacttgtgtgCttatcttcagcttcaaacat	9	16	6	10	0	4	0	3	0	1	0	4	0	4	0	1	0	4	3	1	0	2	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179497281C>T	ENST00000591111.1	-	185	38753	c.38529G>A	c.(38527-38529)aaG>aaA	p.K12843K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.K14484K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.K5611K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K5544K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.K5419K|TTN_ENST00000342992.6_Silent_p.K11916K			Q8WZ42	TITIN_HUMAN	titin	12843	Ig-like 85.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGTGTGCTTATCTTCAG	0.328																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35746-35748)aaG>aaA		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107	104	105					2																	179497281		1912	4108	6020	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497281C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38529G>A	2.37:g.179497281C>T						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5611K|TTN_uc021vta.1_Silent_p.K5544K|TTN_uc021vtb.1_Silent_p.K5419K	p.K11916K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		183	35973	-			12843			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35748G>A																																																																																					0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179497281	C	T	179497281	2	4	279	1	0	0	0	0	0	0	0	1	16732	796	28	3		3	TTN	2	179497281	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	299	179497281	63702092	12	19951											
TTN	7273	broad.mit.edu	37	chr2	179647563	179647563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagcaggatgtgctgaCggttccagcctcatttacag	10	10	11	10	1	1	2	1	1	0	1	2	3	2	3	2	2	4	3	2	2	2	4	rs368770038		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179647563C>T	ENST00000591111.1	-	18	3294	c.3070G>A	c.(3070-3072)Gtc>Atc	p.V1024I	TTN_ENST00000589042.1_Missense_Mutation_p.V1024I|TTN_ENST00000342175.6_Missense_Mutation_p.V978I|TTN_ENST00000359218.5_Missense_Mutation_p.V978I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1024I|TTN_ENST00000460472.2_Missense_Mutation_p.V978I|TTN_ENST00000342992.6_Missense_Mutation_p.V1024I			Q8WZ42	TITIN_HUMAN	titin	32577	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGCTGACGGTTCCAGCC	0.498																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(3070-3072)Gtc>Atc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	86	71	76		2932,3070,3070,2932,2932	6.2	1	2		76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	978/26927,1024/33424,1024/5605,978/27052,978/27119	179647563	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647563C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3070G>A	2.37:g.179647563C>T	ENSP00000465570:p.Val1024Ile					TTN_uc021vsz.1_Missense_Mutation_p.V978I|TTN_uc021vta.1_Missense_Mutation_p.V978I|TTN_uc021vtb.1_Missense_Mutation_p.V978I|TTN_uc002unb.2_Missense_Mutation_p.V1024I	p.V1024I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		17	3295	-			1024			Ig-like 3.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.3070G>A		.	.	.	.	.	.	.	.	.	.	C	13.24	2.177188	0.38413	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66858	0.2832	L	0.35793	1.09	0.26168	N	0.979906	P;P;P;P;D	0.56746	0.768;0.768;0.768;0.768;0.977	B;B;B;B;P	0.46076	0.12;0.12;0.12;0.12;0.503	T	0.64803	-0.6321	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	978;978;978;1024;1024	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	1024;978;978;978;978;1024	ENSP00000343764:V1024I;ENSP00000434586:V978I;ENSP00000340554:V978I;ENSP00000352154:V978I;ENSP00000354117:V1024I	ENSP00000340554:V978I	V	-	1	0	TTN	179355808	0.992000	0.36948	0.999000	0.59377	0.572000	0.35998	3.050000	0.49877	2.941000	0.99782	0.655000	0.94253	GTC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179647563	C	T	179647563	3	4	279	1	0	0	0	0	1	0	0	0	16732	536	19	1	108298	1	TTN	2	179647563	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	150282	179647563	63551810	13	19952											
MYO1B	4430	broad.mit.edu	37	chr2	192278803	192278803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattccaaggggcttaccTggaaatcaacaagaacccca	15	6	7	13	0	1	1	1	0	0	1	2	2	2	2	5	3	3	1	5	3	6	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:192278803T>C	ENST00000392318.3	+	28	3150	c.2903T>C	c.(2902-2904)cTg>cCg	p.L968P	MYO1B_ENST00000439065.2_Missense_Mutation_p.L213P|MYO1B_ENST00000339514.4_Missense_Mutation_p.L910P|MYO1B_ENST00000304164.4_Missense_Mutation_p.L968P|MYO1B_ENST00000392316.1_Missense_Mutation_p.L939P	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	968	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGGGCTTACCTGGAAATCAAC	0.373																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2902-2904)cTg>cCg		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							113	119	117					2																	192278803		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192278803T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2903T>C	2.37:g.192278803T>C	ENSP00000376132:p.Leu968Pro					MYO1B_uc002usq.2_Missense_Mutation_p.L910P|MYO1B_uc002usr.2_Missense_Mutation_p.L968P|MYO1B_uc002usu.2_Missense_Mutation_p.L213P	p.L968P	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		27	3158	+			968					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2903T>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053594	0.75960	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.16	5.16	0.70880	Myosin tail 2 (1);	0.079818	0.53938	D	0.000058	T	0.68586	0.3017	M	0.66297	2.02	0.80722	D	1	D;D;D	0.65815	0.995;0.976;0.986	D;D;P	0.65573	0.913;0.936;0.898	T	0.71981	-0.4428	10	0.72032	D	0.01	.	13.9994	0.64424	0.0:0.0:0.0:1.0	.	213;968;910	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	P	910;968;968;939;213	ENSP00000341903:L910P;ENSP00000376132:L968P;ENSP00000306382:L968P;ENSP00000376130:L939P;ENSP00000391442:L213P	ENSP00000306382:L968P	L	+	2	0	MYO1B	191987048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.426000	0.66476	2.296000	0.77279	0.482000	0.46254	CTG		0.373	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		C	192278803	T	C	192278803	3	2	279	1	0	0	0	0	1	0	0	0	10069	1580	55	4	3009	4	MYO1B	2	192278803	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	12631240	192278803	50920570	14	19953											
QARS	5859	broad.mit.edu	37	chr3	49136953	49136953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacctaccgcacagcacCagttgctacaagctggagga	11	5	10	15	2	0	0	0	0	0	0	0	2	0	2	4	2	5	6	4	2	3	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:49136953C>A	ENST00000306125.6	-	16	1853	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	QARS_ENST00000414533.1_Missense_Mutation_p.G495C|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	506					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCACAGCACCAGTTGCTACA	0.527																																						uc003cvx.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1516-1518)Ggt>Tgt		Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	L-Glutamine(DB00130)						110	112	111					3																	49136953		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136953C>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1516G>T	3.37:g.49136953C>A	ENSP00000307567:p.Gly506Cys					QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.G361C|QARS_uc003cvy.3_Missense_Mutation_p.G361C|QARS_uc011bce.2_Missense_Mutation_p.G495C	p.G506C	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	1521	-			506					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1516G>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531807	0.85706	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.23348	1.91;1.91;1.91	5.85	5.85	0.93711	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81380	-0.0959	10	0.87932	D	0	-15.6439	20.1669	0.98153	0.0:1.0:0.0:0.0	.	495;506	B4DWJ2;P47897	.;SYQ_HUMAN	C	26;506;495	ENSP00000396326:G26C;ENSP00000307567:G506C;ENSP00000390015:G495C	ENSP00000307567:G506C	G	-	1	0	QARS	49111957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.570000	0.67398	2.770000	0.95276	0.650000	0.86243	GGT		0.527	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		A	49136953	C	A	49136953	3	1	279	1	0	0	0	0	1	0	0	0	12871	594	21	5	847	5	QARS	3	49136953	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		49136953	148885477	15	19954											
EPHA6	285220	broad.mit.edu	37	chr3	96945145	96945145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataaagcttttgctgggaaCacaaaatgttctaaatgtcc	14	13	7	7	0	1	0	0	0	1	0	2	1	2	1	1	1	3	3	1	1	8	6			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:96945145C>A	ENST00000389672.5	+	4	1190	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	EPHA6_ENST00000470610.2_Missense_Mutation_p.N384K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGCTGGGAACACAAAATGTT	0.358																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1150-1152)aaC>aaA		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							125	117	120					3																	96945145		1830	4082	5912	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96945145C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1152C>A	3.37:g.96945145C>A	ENSP00000374323:p.Asn384Lys					EPHA6_uc003drp.1_Missense_Mutation_p.N384K	p.N384K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	1195	+			289			Fibronectin type-III 1.		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1152C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023259	0.35701	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	D;D	0.97941	-4.62;-4.62	5.44	2.11	0.27256	.	.	.	.	.	D	0.96460	0.8845	M	0.82193	2.58	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	D	0.93042	0.6458	9	0.56958	D	0.05	.	8.2618	0.31790	0.0:0.4153:0.0:0.5847	.	384;384	B3KS12;E7EU71	.;.	K	384	ENSP00000420598:N384K;ENSP00000374323:N384K	ENSP00000374323:N384K	N	+	3	2	EPHA6	98427835	0.989000	0.36119	0.997000	0.53966	0.909000	0.53808	0.294000	0.19047	0.200000	0.20447	0.460000	0.39030	AAC		0.358	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		A	96945145	C	A	96945145	3	1	279	1	0	0	0	0	1	0	0	0	5171	477	17	5	1166	5	EPHA6	3	96945145	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	47808192	96945145	101077285	16	19955											
HCN1	348980	broad.mit.edu	37	chr5	45262329	45262329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatggggcagcgagggctgCgaggcggagagtggcctgac	7	5	20	9	3	1	2	1	1	0	1	1	5	1	2	1	6	2	2	1	6	0	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:45262329C>T	ENST00000303230.4	-	8	2424	c.2367G>A	c.(2365-2367)tcG>tcA	p.S789S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	789				S -> W (in Ref. 2; AAC39759). {ECO:0000305}.	apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGAGGGCTGCGAGGCGGAGA	0.627																																						uc003jok.3																			0		p.S789L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2365-2367)tcG>tcA		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							63	60	61					5																	45262329		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262329C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2367G>A	5.37:g.45262329C>T							p.S789S	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2392	-			789	S -> W (in Ref. 2; AAC39759).					Silent	SNP	ENST00000303230.4	37	c.2367G>A	CCDS3952.1																																																																																				0.627	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262329	C	T	45262329	2	4	279	1	0	0	0	0	0	0	0	1	6996	755	27	1		1	HCN1	5	45262329	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		45262329	135652931	17	19956											
GPR98	84059	broad.mit.edu	37	chr5	89986756	89986756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggacagcttgctactggCgacctgcgagttgtctcagg	8	10	13	10	2	1	0	1	0	1	0	2	3	1	1	1	3	4	3	1	3	2	3	rs374348614	byFrequency	TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:89986756C>T	ENST00000405460.2	+	31	6945	c.6849C>T	c.(6847-6849)ggC>ggT	p.G2283G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2283	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTACTGGCGACCTGCGAG	0.493													C|||	2	0.000399361	0	0	5008	,	,		18960	0		0	False		,,,				2504	0.002					uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6847-6849)ggC>ggT		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.		C		1,3905		0,1,1952	103	101	102		6849	3	1	5		102	0,8320		0,0,4160	no	coding-synonymous	GPR98	NM_032119.3		0,1,6112	TT,TC,CC		0.0,0.0256,0.0082		2283/6307	89986756	1,12225	1953	4160	6113	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986756C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6849C>T	5.37:g.89986756C>T						GPR98_uc003kjt.3_Missense_Mutation_p.A17V|GPR98_uc003kjv.3_5'Flank	p.G2283G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	6945	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2283			Calx-beta 16.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6849C>T	CCDS47246.1																																																																																				0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89986756	C	T	89986756	2	4	279	1	0	0	0	0	0	0	0	1	6721	755	27	1		1	GPR98	5	89986756	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	44724427	89986756	90928504	18	19957											
PCDHA11	56138	broad.mit.edu	37	chr5	140249736	140249736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgataactctcctgaagtcGccgtgacttccttgtccctc	7	12	7	15	3	1	2	0	2	1	0	6	3	3	2	4	0	1	0	4	0	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140249736G>A	ENST00000398640.2	+	1	1048	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	350	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A350T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAAGTCGCCGTGACTTC	0.547																																						uc003lia.2																			1	Substitution - Missense(1)	p.A350T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1048-1050)Gcc>Acc		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.							68	73	71					5																	140249736		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140249736G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1048G>A	5.37:g.140249736G>A	ENSP00000381636:p.Ala350Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A350T	p.A350T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1906	+			366			Cadherin 3.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1048G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.455096	0.00173	.	.	ENSG00000249158	ENST00000398640	T	0.59906	0.23	5.73	0.616	0.17613	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.26846	0.0657	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.26326	-1.0106	9	0.02654	T	1	.	4.6734	0.12699	0.5058:0.0:0.297:0.1972	.	350;350	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	350	ENSP00000381636:A350T	ENSP00000381636:A350T	A	+	1	0	PCDHA11	140229920	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-2.764000	0.00784	0.119000	0.18210	-1.320000	0.01293	GCC		0.547	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140249736	G	A	140249736	3	1	279	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1050	1	PCDHA11	5	140249736	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	50262980	140249736	40665524	19	19958											
PCDHB4	56131	broad.mit.edu	37	chr5	140503426	140503426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcctgggctgttcggcGtgtgggcgcacaatggcgag	5	7	19	10	5	0	0	0	0	0	0	1	2	0	1	1	5	1	3	1	5	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140503426G>A	ENST00000194152.1	+	1	1846	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTTCGGCGTGTGGGCGCA	0.677																																						uc003lip.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1846-1848)Gtg>Atg		Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.							25	26	25					5																	140503426		2106	4140	6246	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503426G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1846G>A	5.37:g.140503426G>A	ENSP00000194152:p.Val616Met						p.V616M	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1846	+			616			Cadherin 6.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1846G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602710	0.46423	.	.	ENSG00000081818	ENST00000194152	T	0.59502	0.26	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67961	0.2949	M	0.69523	2.12	0.30469	N	0.773477	D	0.65815	0.995	P	0.59012	0.85	T	0.67806	-0.5575	9	0.72032	D	0.01	.	7.9302	0.29897	0.1857:0.0:0.8143:0.0	.	616	Q9Y5E5	PCDB4_HUMAN	M	616	ENSP00000194152:V616M	ENSP00000194152:V616M	V	+	1	0	PCDHB4	140483610	0.189000	0.23263	0.998000	0.56505	0.844000	0.47949	0.537000	0.23144	2.307000	0.77673	0.485000	0.47835	GTG		0.677	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503426	G	A	140503426	3	1	279	1	0	0	0	0	1	0	0	0	11544	1145	40	1	1848	1	PCDHB4	5	140503426	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	253690	140503426	40411834	20	19959											
PDGFRB	5159	broad.mit.edu	37	chr5	149504343	149504343	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaatggctcaggccaTgagccgtggcctccaccacc	8	6	11	16	1	1	2	1	2	0	1	2	3	2	2	7	3	1	1	7	3	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:149504343T>A	ENST00000261799.4	-	13	2328	c.1859A>T	c.(1858-1860)cAt>cTt	p.H620L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCAGGCCATGAGCCGTGGC	0.597			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1858-1860)cAt>cTt		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						44	43	43					5																	149504343		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149504343T>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1859A>T	5.37:g.149504343T>A	ENSP00000261799:p.His620Leu					PDGFRB_uc010jhd.3_Missense_Mutation_p.H459L	p.H620L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2328	-		all_hematologic(541;0.224)	620			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1859A>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117099	0.77323	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.82433	-1.61	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000086	T	0.77765	0.4179	N	0.10972	0.075	0.54753	D	0.99998	B;D	0.55172	0.071;0.97	B;P	0.53102	0.18;0.718	T	0.82279	-0.0536	10	0.62326	D	0.03	.	14.2517	0.66023	0.0:0.0:0.0:1.0	.	620;620	A8KAM8;P09619	.;PGFRB_HUMAN	L	620;290	ENSP00000261799:H620L	ENSP00000261799:H620L	H	-	2	0	PDGFRB	149484536	1.000000	0.71417	0.922000	0.36590	0.993000	0.82548	4.827000	0.62723	1.953000	0.56701	0.374000	0.22700	CAT		0.597	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		A	149504343	T	A	149504343	3	1	279	1	0	0	0	0	1	0	0	0	11662	1464	51	5	1505	5	PDGFRB	5	149504343	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	9000917	149504343	31410917	21	19960											
MSX2	4488	broad.mit.edu	37	chr5	174152030	174152030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggaacccggccgatattCgccgccgccaagtgagtgcg	8	5	14	14	6	0	1	0	1	0	0	1	3	0	2	5	2	2	1	5	2	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:174152030C>T	ENST00000239243.6	+	1	495	c.368C>T	c.(367-369)tCg>tTg	p.S123L	MSX2_ENST00000507785.1_Missense_Mutation_p.S123L	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	123					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCGATATTCGCCGCCGCCA	0.677																																						uc003mcy.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(367-369)tCg>tTg		Homo sapiens msh homeobox 2 (MSX2), mRNA.							10	16	14					5																	174152030		2005	3919	5924	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174152030C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.368C>T	5.37:g.174152030C>T	ENSP00000239243:p.Ser123Leu						p.S123L	NM_002449	NP_002440	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		0	456	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	123					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.368C>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323827	0.81580	.	.	ENSG00000120149	ENST00000239243;ENST00000507785	D;T	0.95656	-3.77;-0.2	4.03	4.03	0.46877	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.78049	2.395	0.80722	D	1	D	0.58970	0.984	B	0.42245	0.381	D	0.95641	0.8698	10	0.66056	D	0.02	-13.4623	16.3771	0.83410	0.0:1.0:0.0:0.0	.	123	P35548	MSX2_HUMAN	L	123	ENSP00000239243:S123L;ENSP00000427425:S123L	ENSP00000239243:S123L	S	+	2	0	MSX2	174084636	0.973000	0.33851	1.000000	0.80357	0.828000	0.46876	3.598000	0.54038	2.075000	0.62263	0.462000	0.41574	TCG		0.677	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			T	174152030	C	T	174152030	3	4	279	1	0	0	0	0	1	0	0	0	9896	893	31	2	370	2	MSX2	5	174152030	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	24647687	174152030	6763230	22	19961											
F13A1	2162	broad.mit.edu	37	chr6	6174842	6174842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcgtcacgtcgaacGtctccttcttgaattctgcc	6	12	8	15	4	4	1	1	1	3	0	7	2	5	1	3	0	3	1	3	0	2	3	rs113599940		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:6174842G>A	ENST00000264870.3	-	12	1983	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	573					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGTCGAACGTCTCCTTCTT	0.527																																						uc003mwv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1717-1719)aCg>aTg		Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	L-Glutamine(DB00130)						283	247	259					6																	6174842		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6174842G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1718C>T	6.37:g.6174842G>A	ENSP00000264870:p.Thr573Met					F13A1_uc011dib.2_Missense_Mutation_p.T510M	p.T573M	NM_000129	NP_000120	P00488	F13A_HUMAN			11	1841	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	573					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1718C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934696	0.34189	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.69306	-0.39	5.78	5.78	0.91487	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.563919	0.18787	N	0.131169	T	0.67915	0.2944	M	0.66939	2.045	0.23542	N	0.997459	D;D	0.76494	0.992;0.999	P;P	0.56278	0.795;0.628	T	0.64449	-0.6405	10	0.52906	T	0.07	.	13.9156	0.63895	0.0:0.0:0.8481:0.1519	.	510;573	F5H080;P00488	.;F13A_HUMAN	M	573;510	ENSP00000264870:T573M	ENSP00000264870:T573M	T	-	2	0	F13A1	6119841	0.877000	0.30153	0.418000	0.26571	0.084000	0.17831	2.734000	0.47368	2.726000	0.93360	0.643000	0.83706	ACG		0.527	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6174842	G	A	6174842	3	1	279	1	0	0	0	0	1	0	0	0	5340	1145	40	1	496	1	F13A1	6	6174842	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		6174842	164940225	23	19962											
FTSJD2	23070	broad.mit.edu	37	chr6	37438827	37438827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagatcaaagctctggcGaaaatccatgcctttgttca	11	11	8	11	1	3	1	2	0	1	1	4	2	4	1	2	1	3	3	2	1	3	2	rs146308234		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:37438827G>A	ENST00000373451.4	+	14	1700	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	512					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AAGCTCTGGCGAAAATCCATG	0.418																																						uc003ons.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1534-1536)gcG>gcA		Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	92	86	88		1536	3	1	6	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	FTSJD2	NM_015050.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		512/836	37438827	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37438827G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1536G>A	6.37:g.37438827G>A							p.A512A	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			13	1789	+			512					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.1536G>A	CCDS4835.1																																																																																				0.418	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		A	37438827	G	A	37438827	2	1	279	1	0	0	0	0	0	0	0	1	6091	1045	37	2		2	FTSJD2	6	37438827	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	31263985	37438827	133676240	24	19963											
SNAP91	9892	broad.mit.edu	37	chr6	84302667	84302667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaaagcactcaccaGataagaggtcagcagtgaga	14	6	11	10	0	2	3	2	1	0	3	2	4	2	3	2	2	2	3	2	2	2	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:84302667G>T	ENST00000439399.2	-	20	2160	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S615Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S615Y|SNAP91_ENST00000428679.2_Missense_Mutation_p.S615Y|SNAP91_ENST00000520302.1_Missense_Mutation_p.S613Y|SNAP91_ENST00000521485.1_Missense_Mutation_p.S615Y|SNAP91_ENST00000521743.1_Missense_Mutation_p.S615Y|SNAP91_ENST00000437520.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	615					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCACTCACCAGATAAGAGGTC	0.448																																						uc021zcf.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1843-1845)tCt>tAt		Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.							32	33	33					6																	84302667		1893	4126	6019	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84302667G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1844C>A	6.37:g.84302667G>T	ENSP00000400459:p.Ser615Tyr					SNAP91_uc011dzd.2_Missense_Mutation_p.S118Y|SNAP91_uc003pka.3_Missense_Mutation_p.S613Y|SNAP91_uc011dze.2_Missense_Mutation_p.S613Y|SNAP91_uc003pkc.3_Missense_Mutation_p.S613Y|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S552Y	p.S615Y	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	18	1874	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	615					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1844C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944266	0.53079	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T	0.35048	2.27;2.28;2.28;2.27;2.3;2.4;2.28;1.86;1.33	5.31	5.31	0.75309	.	0.313972	0.34411	N	0.003984	T	0.50650	0.1628	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.71674	0.989;0.997;0.994;0.998	D;P;P;D	0.72625	0.932;0.903;0.898;0.978	T	0.50841	-0.8780	10	0.56958	D	0.05	-9.9527	18.9633	0.92685	0.0:0.0:1.0:0.0	.	496;613;615;613	B7Z2N2;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	Y	615;615;615;615;615;613;615;12;428	ENSP00000429776:S615Y;ENSP00000358708:S615Y;ENSP00000400459:S615Y;ENSP00000195649:S615Y;ENSP00000412492:S615Y;ENSP00000428511:S613Y;ENSP00000428215:S615Y;ENSP00000430255:S12Y;ENSP00000430071:S428Y	ENSP00000195649:S615Y	S	-	2	0	SNAP91	84359386	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	8.762000	0.91711	2.489000	0.83994	0.561000	0.74099	TCT		0.448	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			T	84302667	G	T	84302667	3	4	279	1	0	0	0	0	1	0	0	0	14833	942	33	5	919	5	SNAP91	6	84302667	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	46863840	84302667	86812400	25	19964											
GPRC6A	222545	broad.mit.edu	37	chr6	117113591	117113591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaataataacatagcatttgGggatgaatgtgcaatacagg	17	10	10	4	0	0	1	0	1	0	0	0	2	0	2	0	3	4	2	0	3	7	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:117113591G>T	ENST00000310357.3	-	6	2516	c.2495C>A	c.(2494-2496)cCc>cAc	p.P832H	GPRC6A_ENST00000530250.1_Missense_Mutation_p.P657H|GPRC6A_ENST00000368549.3_Missense_Mutation_p.P761H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	832					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P832H(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGCATTTGGGGATGAATGT	0.368																																						uc003pxj.1																			1	Substitution - Missense(1)	p.P832H(2)	lung(1)	autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(2494-2496)cCc>cAc		Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.							110	112	111					6																	117113591		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113591G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2495C>A	6.37:g.117113591G>T	ENSP00000309493:p.Pro832His					GPRC6A_uc003pxk.1_Missense_Mutation_p.P657H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P761H	p.P832H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	5	2517	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	832					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2495C>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498801	0.44455	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.97811	-4.55;-4.55;-4.55	4.11	4.11	0.48088	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000058	D	0.98947	0.9642	M	0.92880	3.355	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99679	1.0998	10	0.87932	D	0	.	16.515	0.84297	0.0:0.0:1.0:0.0	.	761;657;832	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	H	832;761;657	ENSP00000309493:P832H;ENSP00000357537:P761H;ENSP00000433465:P657H	ENSP00000309493:P832H	P	-	2	0	GPRC6A	117220284	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.342000	0.79310	2.132000	0.65825	0.591000	0.81541	CCC		0.368	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			T	117113591	G	T	117113591	3	4	279	1	0	0	0	0	1	0	0	0	6728	1232	43	5	289	5	GPRC6A	6	117113591	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	32810924	117113591	54001476	26	19965											
INTS1	26173	broad.mit.edu	37	chr7	1538054	1538054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgggcctaccttgggCgccagctctgagctgtgctg	4	9	14	14	1	1	1	0	1	1	0	1	2	1	1	4	2	4	3	4	2	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr7:1538054C>T	ENST00000404767.3	-	10	1504	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Silent_p.A601A	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	473					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642																																						uc003skn.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1417-1419)gcG>gcA		Homo sapiens integrator complex subunit 1 (INTS1), mRNA.							62	68	66					7																	1538054		2024	4178	6202	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538054C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1419G>A	7.37:g.1538054C>T						INTS1_uc003skq.2_Silent_p.A473A	p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	9	1520	-		Ovarian(82;0.0253)	473					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.1419G>A	CCDS47526.1																																																																																				0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			T	1538054	C	T	1538054	2	4	279	1	0	0	0	0	0	0	0	1	7775	755	27	1		1	INTS1	7	1538054	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		1538054	157600609	27	19966											
ESRP1	54845	broad.mit.edu	37	chr8	95683852	95683852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatttcctgggggagttcGccacagatattcgtactcat	8	13	11	9	2	1	1	1	0	0	1	4	3	2	3	2	3	1	2	2	3	2	5	rs542614931		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr8:95683852G>A	ENST00000433389.2	+	11	1595	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	ESRP1_ENST00000423620.2_Missense_Mutation_p.A469T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A469T|ESRP1_ENST00000358397.5_Missense_Mutation_p.A469T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	469	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGGGGAGTTCGCCACAGATAT	0.438													G|||	1	0.000199681	0	0	5008	,	,		16707	0		0	False		,,,				2504	0.001					uc003ygq.4																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1405-1407)Gcc>Acc		Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.							53	52	52					8																	95683852		1973	4164	6137	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683852G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1405G>A	8.37:g.95683852G>A	ENSP00000405738:p.Ala469Thr					ESRP1_uc003ygr.4_Missense_Mutation_p.A469T|ESRP1_uc003ygs.4_Missense_Mutation_p.A469T|ESRP1_uc003ygt.4_Missense_Mutation_p.A469T|ESRP1_uc003ygu.4_Missense_Mutation_p.A469T|ESRP1_uc003ygv.3_Missense_Mutation_p.A309T|ESRP1_uc003ygw.3_Missense_Mutation_p.A309T	p.A469T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			10	1588	+			469			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1405G>A	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.49|12.49	1.953345|1.953345	0.34471|0.34471	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.29397|.	1.57;1.57;1.57;3.38;1.57|.	4.98|4.98	-0.717|-0.717	0.11208|0.11208	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.380726|.	0.32987|.	N|.	0.005406|.	T|T	0.28134|0.28134	0.0694|0.0694	N|N	0.12961|0.12961	0.28|0.28	0.28381|0.28381	N|N	0.919549|0.919549	P;B;B;B;B;B|.	0.43662|.	0.814;0.01;0.09;0.033;0.026;0.004|.	B;B;B;B;B;B|.	0.40782|.	0.34;0.012;0.017;0.058;0.021;0.006|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.33141|.	T|.	0.24|.	-4.8416|-4.8416	14.142|14.142	0.65325|0.65325	0.0:0.0:0.5259:0.4741|0.0:0.0:0.5259:0.4741	.|.	469;469;469;469;469;469|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|H	469;469;469;469;328|334	ENSP00000407349:A469T;ENSP00000405738:A469T;ENSP00000351168:A469T;ENSP00000402766:A469T;ENSP00000429125:A328T|.	ENSP00000351168:A469T|.	A|R	+|+	1|2	0|0	ESRP1|ESRP1	95753028|95753028	0.942000|0.942000	0.31987|0.31987	0.949000|0.949000	0.38748|0.38748	0.990000|0.990000	0.78478|0.78478	1.583000|1.583000	0.36579|0.36579	-0.293000|-0.293000	0.08986|0.08986	-0.457000|-0.457000	0.05445|0.05445	GCC|CGC		0.438	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		A	95683852	G	A	95683852	3	1	279	1	0	0	0	0	1	0	0	0	5258	1087	38	1	1447	1	ESRP1	8	95683852	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		95683852	50680170	28	19967											
BNC2	54796	broad.mit.edu	37	chr9	16435990	16435990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttccatggattcctcGcccagtttgggctccgaaga	6	11	9	15	2	0	1	0	0	0	1	5	3	4	2	6	2	0	2	6	2	1	3	rs376030025		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:16435990G>A	ENST00000380672.4	-	6	2259	c.2202C>T	c.(2200-2202)ggC>ggT	p.G734G	BNC2_ENST00000380666.2_Silent_p.G734G|BNC2_ENST00000545497.1_Silent_p.G639G|BNC2_ENST00000380667.2_Silent_p.G667G	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2200-2202)ggC>ggT		Homo sapiens basonuclin 2 (BNC2), mRNA.		G		0,4406		0,0,2203	102	89	94		2202	-7.7	0.6	9		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BNC2	NM_017637.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		734/1100	16435990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435990G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2202C>T	9.37:g.16435990G>A						BNC2_uc011lmw.2_Silent_p.G639G|BNC2_uc003zmm.3_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.2_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.3_Silent_p.G499G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	p.G734G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	2342	-			734						Silent	SNP	ENST00000380672.4	37	c.2202C>T	CCDS6482.2																																																																																				0.517	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		A	16435990	G	A	16435990	2	1	279	1	0	0	0	0	0	0	0	1	1475	1074	38	1		1	BNC2	9	16435990	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08		16435990	124777441	29	19968											
LINGO2	158038	broad.mit.edu	37	chr9	27948963	27948963	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtttttgtgcttgcctttCcctcggctccacacaaaaag	7	14	7	13	1	0	0	0	0	0	0	3	0	2	0	3	1	2	3	3	1	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:27948963C>A	ENST00000379992.2	-	6	2156	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	LINGO2_ENST00000308675.3_Silent_p.G569G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	569						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTTGCCTTTCCCTCGGCTCC	0.463																																						uc003zqv.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1705-1707)ggG>ggT		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.							101	90	94					9																	27948963		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27948963C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1707G>T	9.37:g.27948963C>A						LINGO2_uc010mjf.1_Silent_p.G569G|LINGO2_uc003zqu.1_Silent_p.G569G|LINGO2_uc022bfc.1_Silent_p.G569G	p.G569G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2357	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	569					A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.1707G>T	CCDS6524.1																																																																																				0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		A	27948963	C	A	27948963	2	1	279	1	0	0	0	0	0	0	0	1	8815	842	30	5		5	LINGO2	9	27948963	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	11512973	27948963	113264468	30	19969											
PHF2	5253	broad.mit.edu	37	chr9	96408031	96408031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggtctggctgtcccGgcccccacgttctatgtcag	3	10	14	14	2	3	0	1	0	2	0	4	0	4	0	3	4	0	3	3	4	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:96408031G>A	ENST00000359246.4	+	4	787	c.420G>A	c.(418-420)ccG>ccA	p.P140P	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	140					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGCTGTCCCGGCCCCCACGT	0.627																																						uc004aub.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(418-420)ccG>ccA		Homo sapiens PHD finger protein 2 (PHF2), mRNA.							63	59	61					9																	96408031		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96408031G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.420G>A	9.37:g.96408031G>A						PHF2_uc011lug.1_Silent_p.P23P	p.P140P	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	3	567	+		Myeloproliferative disorder(762;0.0255)	140					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.420G>A	CCDS35069.1																																																																																				0.627	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		A	96408031	G	A	96408031	2	1	279	1	0	0	0	0	0	0	0	1	11830	1103	39	2		2	PHF2	9	96408031	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	68459068	96408031	44805400	31	19970											
OR13C8	138802	broad.mit.edu	37	chr9	107331658	107331658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatctttccttcctcgaCgtttgctacacaagttcctc	7	16	5	13	2	1	0	0	0	1	0	6	1	4	0	3	0	2	4	3	0	3	6			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:107331658C>T	ENST00000335040.1	+	1	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423																																						uc011lvo.2																			0		p.D70Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(208-210)gaC>gaT		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							279	261	267					9																	107331658		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331658C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.210C>T	9.37:g.107331658C>T							p.D70D	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			0	210	+			70					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.210C>T	CCDS35090.1																																																																																				0.423	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			T	107331658	C	T	107331658	2	4	279	1	0	0	0	0	0	0	0	1	10938	535	19	1		1	OR13C8	9	107331658	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	10923627	107331658	33881773	32	19971											
ZNF79	7633	broad.mit.edu	37	chr9	130207274	130207274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgagagctcagcccTcattcggcatcatataatcc	10	11	7	13	1	4	1	4	1	0	1	6	2	5	1	2	1	2	2	2	1	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:130207274T>C	ENST00000342483.5	+	5	1701	c.1295T>C	c.(1294-1296)cTc>cCc	p.L432P	ZNF79_ENST00000543471.1_Missense_Mutation_p.L408P|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCTCAGCCCTCATTCGGCAT	0.443																																						uc004bqw.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1294-1296)cTc>cCc		Homo sapiens zinc finger protein 79 (ZNF79), mRNA.							96	102	100					9																	130207274		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207274T>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1295T>C	9.37:g.130207274T>C	ENSP00000362446:p.Leu432Pro					ZNF79_uc011maf.2_Missense_Mutation_p.L408P|ZNF79_uc011mag.2_Missense_Mutation_p.L408P	p.L432P	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			4	1709	+			432					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.1295T>C	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196073	0.38806	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.53857	0.6;0.6	3.6	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78123	0.4234	H	0.94698	3.57	0.23204	N	0.998129	D	0.89917	1.0	D	0.91635	0.999	T	0.68375	-0.5425	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:0.0:1.0	.	432	Q15937	ZNF79_HUMAN	P	432;408	ENSP00000362446:L432P;ENSP00000438418:L408P	ENSP00000362446:L432P	L	+	2	0	ZNF79	129247095	0.355000	0.24921	0.834000	0.33040	0.800000	0.45204	3.894000	0.56250	1.502000	0.48669	0.533000	0.62120	CTC		0.443	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		C	130207274	T	C	130207274	3	2	279	1	0	0	0	0	1	0	0	0	18158	1551	54	4	1313	4	ZNF79	9	130207274	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	22875616	130207274	11006157	33	19972											
KNDC1	85442	broad.mit.edu	37	chr10	135020649	135020649	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccggcaggtcatgtaCgcggaacgctggggcctgga	6	6	16	13	5	1	0	1	0	0	0	2	2	2	2	3	6	2	4	3	6	2	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr10:135020649C>A	ENST00000304613.3	+	20	3609	c.3588C>A	c.(3586-3588)taC>taA	p.Y1196*	KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Y1198*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1196					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTCATGTACGCGGAACGCT	0.657																																						uc001llz.1																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3586-3588)taC>taA		Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.							20	20	20					10																	135020649		2176	4278	6454	SO:0001587	stop_gained	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020649C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3588C>A	10.37:g.135020649C>A	ENSP00000304437:p.Tyr1196*					KNDC1_uc001lma.1_3'UTR	p.Y1196*	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	19	3589	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1196					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	ENST00000304613.3	37	c.3588C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450399	0.96205	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	.	.	.	3.77	-5.71	0.02413	.	0.250771	0.32918	U	0.005482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2735	13.5826	0.61911	0.0:0.1882:0.0:0.8118	.	.	.	.	X	1196;1198	.	ENSP00000304437:Y1196X	Y	+	3	2	KNDC1	134870639	0.551000	0.26497	0.001000	0.08648	0.033000	0.12548	-0.557000	0.05985	-1.289000	0.02375	-0.496000	0.04628	TAC		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135020649	C	A	135020649	4	1	279	1	0	0	0	0	0	1	0	0	8426	547	19	5	3666	5	KNDC1	10	135020649	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		135020649	514098	34	19973											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955702	18955702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtacagcctggtcagCggtatcttccgggatccaca	8	9	11	13	3	3	0	2	0	1	0	5	1	5	1	3	3	3	2	3	3	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr11:18955702C>T	ENST00000302797.3	-	1	854	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	210					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTGGTCAGCGGTATCTTCC	0.507																																						uc001mpg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(628-630)ccG>ccA		Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.							102	86	91					11																	18955702		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955702C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.630G>A	11.37:g.18955702C>T							p.P210P	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			0	848	-			210					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.630G>A	CCDS7846.1																																																																																				0.507	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		T	18955702	C	T	18955702	2	4	279	1	0	0	0	0	0	0	0	1	9766	755	27	1		1	MRGPRX1	11	18955702	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		18955702	116050814	35	19974											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435195	18435195	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgagagtgaaattgatgaAaacaccttttttgtgcccac	13	12	8	8	1	0	4	0	3	0	1	0	5	0	4	2	0	3	0	2	0	4	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:18435195A>G	ENST00000266497.5	+	1	218	c.180A>G	c.(178-180)gaA>gaG	p.E60E	PIK3C2G_ENST00000538779.1_Silent_p.E60E|PIK3C2G_ENST00000535651.1_Silent_p.E60E|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Silent_p.E60E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	60					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATTGATGAAAACACCTTTT	0.398																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(178-180)gaA>gaG		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							81	78	79					12																	18435195		1867	4093	5960	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435195A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.180A>G	12.37:g.18435195A>G						PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.E60E|PIK3C2G_uc010sic.2_5'UTR	p.E60E	NM_004570	NP_004561	O75747	P3C2G_HUMAN			1	296	+		Hepatocellular(102;0.194)	60					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.180A>G	CCDS44839.1																																																																																				0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18435195	A	G	18435195	2	3	279	1	0	0	0	0	0	0	0	1	11911	11	1	4		4	PIK3C2G	12	18435195	Silent	SNP	A	TCGA-76-6663-01A-11D-1845-08		18435195	115416700	36	19975											
GLI1	2735	broad.mit.edu	37	chr12	57864141	57864141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggccccccagtctctcttGaacgccgcagcagcagctcc	6	7	10	18	2	2	1	0	1	2	0	4	1	3	1	5	1	4	4	5	1	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:57864141G>A	ENST00000228682.2	+	12	1709	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	GLI1_ENST00000546141.1_Missense_Mutation_p.E499K|GLI1_ENST00000543426.1_Missense_Mutation_p.E412K	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	540					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTCTCTTGAACGCCGCAG	0.612																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.3																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1618-1620)Gaa>Aaa		Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.							79	82	81					12																	57864141		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864141G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1618G>A	12.37:g.57864141G>A	ENSP00000228682:p.Glu540Lys					GLI1_uc021qzi.1_Missense_Mutation_p.E499K|GLI1_uc009zpq.3_Missense_Mutation_p.E412K	p.E540K	NM_005269	NP_001153517	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1712	+			540					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1618G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987282	0.53934	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.65;2.55;2.63;2.63	3.95	3.95	0.45737	.	0.000000	0.49916	D	0.000124	T	0.15132	0.0365	L	0.48362	1.52	0.23287	N	0.997972	B	0.06786	0.001	B	0.01281	0.0	T	0.16364	-1.0405	10	0.66056	D	0.02	.	15.9719	0.80027	0.0:0.0:1.0:0.0	.	540	P08151	GLI1_HUMAN	K	412;540;499;499	ENSP00000437607:E412K;ENSP00000228682:E540K;ENSP00000441006:E499K;ENSP00000434408:E499K	ENSP00000228682:E540K	E	+	1	0	GLI1	56150408	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.191000	0.77763	2.483000	0.83821	0.561000	0.74099	GAA		0.612	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57864141	G	A	57864141	3	1	279	1	0	0	0	0	1	0	0	0	6437	1291	45	3	1660	3	GLI1	12	57864141	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	39428946	57864141	75987754	37	19976											
TRHDE	29953	broad.mit.edu	37	chr12	72667155	72667155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggccgaggaccgggcGttcggggctgtccctgtagc	4	7	17	13	4	0	0	0	0	0	0	2	2	1	1	3	5	2	4	3	5	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:72667155G>A	ENST00000261180.4	+	1	693	c.597G>A	c.(595-597)gcG>gcA	p.A199A	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	199					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGGACCGGGCGTTCGGGGCTG	0.607																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(595-597)gcG>gcA		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							48	52	51					12																	72667155		2203	4300	6503	SO:0001819	synonymous_variant	283392				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667155G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.597G>A	12.37:g.72667155G>A						LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	p.A199A	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			0	627	+			199					A5PL19|Q6UWJ4	Translation_Start_Site	SNP	ENST00000261180.4	37	c.597G>A	CCDS9004.1																																																																																				0.607	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	72667155	G	A	72667155	2	1	279	1	0	0	0	0	0	0	0	1	16476	1132	40	1		1	TRHDE	12	72667155	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	14803014	72667155	61184740	38	19977											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100433500	100433500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatcatactttccactGgtcagcagcactgaatcgct	10	12	7	12	1	3	2	3	1	0	1	5	2	4	2	1	1	3	3	1	1	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:100433500G>A	ENST00000279907.7	-	20	4361	c.4149C>T	c.(4147-4149)acC>acT	p.T1383T	UHRF1BP1L_ENST00000545232.2_Silent_p.T1033T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1383										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTCCACTGGTCAGCAGCA	0.428																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4147-4149)acC>acT		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.							139	113	121					12																	100433500		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100433500G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4149C>T	12.37:g.100433500G>A						UHRF1BP1L_uc001tgp.3_Silent_p.T1033T	p.T1383T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			19	4378	-			1383					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.4149C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	2.535	-0.307578	0.05458	.	.	ENSG00000111647	ENST00000548712	.	.	.	5.08	-0.0491	0.13836	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-0.9371	1.3189	0.02112	0.2438:0.1561:0.4404:0.1598	.	.	.	.	L	144	.	.	P	-	2	0	UHRF1BP1L	98957631	0.000000	0.05858	0.009000	0.14445	0.588000	0.36517	-0.612000	0.05616	0.166000	0.19597	-0.150000	0.13652	CCA		0.428	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		A	100433500	G	A	100433500	2	1	279	1	0	0	0	0	0	0	0	1	16966	1335	47	3		3	UHRF1BP1L	12	100433500	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	27766345	100433500	33418395	39	19978											
DNAH10	196385	broad.mit.edu	37	chr12	124298408	124298408	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctagtcatggaactcagAtatagggacgtccaggagcg	11	9	12	9	2	3	1	2	0	1	1	5	4	4	4	1	3	2	0	1	3	4	3	rs372341879		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:124298408A>C	ENST00000409039.3	+	20	3400	c.3375A>C	c.(3373-3375)agA>agC	p.R1125S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1125	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAACTCAGATATAGGGACG	0.383																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3373-3375)agA>agC		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							78	76	77					12																	124298408		1984	4194	6178	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124298408A>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3375A>C	12.37:g.124298408A>C	ENSP00000386770:p.Arg1125Ser					DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	p.R1125S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3400	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1125			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3375A>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	8.201	0.798169	0.16397	.	.	ENSG00000197653	ENST00000409039	T	0.21361	2.01	5.62	-6.88	0.01665	.	.	.	.	.	T	0.19005	0.0456	L	0.58669	1.825	0.09310	N	1	B	0.18310	0.027	B	0.17098	0.017	T	0.37220	-0.9715	9	0.13470	T	0.59	.	16.6783	0.85285	0.8484:0.0:0.1516:0.0	.	1125	Q8IVF4	DYH10_HUMAN	S	1125	ENSP00000386770:R1125S	ENSP00000386770:R1125S	R	+	3	2	DNAH10	122864361	0.012000	0.17670	0.009000	0.14445	0.046000	0.14306	-0.556000	0.05992	-1.339000	0.02230	-0.256000	0.11100	AGA		0.383	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124298408	A	C	124298408	3	2	279	1	0	0	0	0	1	0	0	0	4598	330	12	5	3453	5	DNAH10	12	124298408	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	23864908	124298408	9553487	40	19979											
RB1	5925	broad.mit.edu	37	chr13	49039399	49039399	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttacaagtttcctagttCacccttacggattcctggag	8	13	7	13	1	1	0	1	0	0	0	3	2	3	2	4	2	2	2	4	2	4	6			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr13:49039399C>A	ENST00000267163.4	+	23	2522	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	795	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTCCTAGTTCACCCTTACGG	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)|p.S794I(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2383-2385)tCa>tAa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						135	138	137					13																	49039399		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039399C>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2384C>A	13.37:g.49039399C>A	ENSP00000267163:p.Ser795*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S795*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2550	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	795			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2384C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.116897	0.98662	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6784	20.1935	0.98237	0.0:1.0:0.0:0.0	.	.	.	.	X	774;795	.	ENSP00000267163:S795X	S	+	2	0	RB1	47937400	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	7.280000	0.78610	2.779000	0.95612	0.591000	0.81541	TCA		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			A	49039399	C	A	49039399	4	1	279	1	0	0	0	0	0	1	0	0	13098	838	29	5	2474	5	RB1	13	49039399	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		49039399	66130479	41	19980											
AHNAK2	113146	broad.mit.edu	37	chr14	105414185	105414185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccaggtcagcggaaggggGctgaatgctgaggtcagtgg	8	7	18	8	1	2	2	2	2	0	0	3	3	3	3	1	6	2	2	1	6	2	0	rs374626844		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr14:105414185G>A	ENST00000333244.5	-	7	7722	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2535						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.667																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7603-7605)Ccc>Tcc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.		G	SER/PRO	1,3815		0,1,1907	113	127	123		7603	-2.9	0	14		123	0,8210		0,0,4105	no	missense	AHNAK2	NM_138420.2	74	0,1,6012	AA,AG,GG		0.0,0.0262,0.0083	benign	2535/5796	105414185	1,12025	1908	4105	6013	SO:0001583	missense	113146					nucleus		g.chr14:105414185G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7603C>T	14.37:g.105414185G>A	ENSP00000353114:p.Pro2535Ser					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2435S	p.P2535S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	7723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2535					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7603C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	4.672	0.124877	0.08931	2.62E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00711	5.8	3.7	-2.91	0.05631	.	.	.	.	.	T	0.00608	0.0020	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43637	-0.9379	9	0.09590	T	0.72	.	8.1398	0.31076	0.1635:0.5172:0.3193:0.0	.	2535	Q8IVF2	AHNK2_HUMAN	S	2535	ENSP00000353114:P2535S	ENSP00000353114:P2535S	P	-	1	0	AHNAK2	104485230	0.001000	0.12720	0.000000	0.03702	0.064000	0.16182	-1.262000	0.02852	-0.225000	0.09913	-0.667000	0.03836	CCC		0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105414185	G	A	105414185	3	1	279	1	0	0	0	0	1	0	0	0	415	1203	42	3	9788	3	AHNAK2	14	105414185	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		105414185	1935355	42	19981											
CEP152	22995	broad.mit.edu	37	chr15	49030645	49030645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcctggctccaaatacGtggtttcttctgacaggtat	7	16	8	10	1	3	1	0	1	3	0	5	1	5	1	2	3	1	3	2	3	3	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:49030645G>A	ENST00000380950.2	-	27	5121	c.4934C>T	c.(4933-4935)aCg>aTg	p.T1645M	CEP152_ENST00000399334.3_Missense_Mutation_p.T1589M	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1645					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCAAATACGTGGTTTCTTC	0.383																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(4933-4935)aCg>aTg		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							191	184	187					15																	49030645		2009	4182	6191	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49030645G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4934C>T	15.37:g.49030645G>A	ENSP00000370337:p.Thr1645Met					CEP152_uc001zwy.3_Missense_Mutation_p.T1589M	p.T1645M	NM_001194998	NP_001181927	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	26	5127	-		all_lung(180;0.0428)	1589					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.4934C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206764	0.09704	.	.	ENSG00000103995	ENST00000399334	T	0.50277	0.75	4.91	-9.82	0.00484	.	1.125920	0.06793	N	0.787327	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.13019	-1.0525	10	0.34782	T	0.22	6.6585	4.6595	0.12636	0.3289:0.0696:0.4066:0.1949	.	1589	O94986	CE152_HUMAN	M	1589	ENSP00000382271:T1589M	ENSP00000382271:T1589M	T	-	2	0	CEP152	46817937	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.666000	0.01963	-2.718000	0.00390	-2.233000	0.00290	ACG		0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		A	49030645	G	A	49030645	3	1	279	1	0	0	0	0	1	0	0	0	3248	1145	40	1	202	1	CEP152	15	49030645	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		49030645	53500747	43	19982											
LASS3	204219	broad.mit.edu	37	chr15	100996164	100996164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaaggtgaaggacctgCaagatcatgagctgtaggtt	13	9	13	6	0	1	3	1	2	0	1	1	4	1	4	1	3	2	5	1	3	5	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:100996164C>A	ENST00000394113.1	-	13	1623	c.933G>T	c.(931-933)ttG>ttT	p.L311F	CERS3_ENST00000284382.4_Missense_Mutation_p.L311F|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.L311F			Q8IU89	CERS3_HUMAN	ceramide synthase 3	311	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GAAGGACCTGCAAGATCATGA	0.393																																						uc002bwa.3																			0											c.(964-966)ttG>ttT		Homo sapiens ceramide synthase 3 (CERS3), mRNA.							124	115	118					15																	100996164		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100996164C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.933G>T	15.37:g.100996164C>A	ENSP00000377672:p.Leu311Phe					CERS3_uc002bvz.3_Missense_Mutation_p.L311F|CERS3_uc002bwb.3_Missense_Mutation_p.L311F	p.L322F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN			12	1537	-			311			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.966G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972220	0.53614	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.93488	-3.23;-3.23	5.66	-8.75	0.00834	TRAM/LAG1/CLN8 homology domain (3);	0.072732	0.56097	D	0.000026	D	0.95636	0.8581	H	0.94503	3.545	0.50039	D	0.999847	D	0.89917	1.0	D	0.91635	0.999	D	0.91540	0.5249	10	0.87932	D	0	-11.6724	5.305	0.15799	0.1238:0.171:0.0934:0.6118	.	311	Q8IU89	CERS3_HUMAN	F	311;322;311	ENSP00000284382:L311F;ENSP00000437640:L311F	ENSP00000284382:L311F	L	-	3	2	CERS3	98813687	0.007000	0.16637	0.076000	0.20297	0.642000	0.38348	-2.925000	0.00691	-1.663000	0.01481	-0.768000	0.03414	TTG		0.393	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		A	100996164	C	A	100996164	3	1	279	1	0	0	0	0	1	0	0	0	8640	709	25	5	226	5	LASS3	15	100996164	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	51965519	100996164	1535228	44	19983											
ZP2	7783	broad.mit.edu	37	chr16	21216830	21216830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaagccttccttcatggCctctggcagggtcagagttt	6	12	12	11	0	3	2	2	1	1	1	4	2	4	2	3	3	1	3	3	3	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:21216830C>T	ENST00000574002.1	-	8	1086	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	ZP2_ENST00000574091.1_Missense_Mutation_p.A202T|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.A202T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	202					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCTTCATGGCCTCTGGCAGG	0.493																																						uc010bwn.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(721-723)Gcc>Acc		Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.							174	151	159					16																	21216830		2199	4300	6499	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21216830C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.604G>A	16.37:g.21216830C>T	ENSP00000460971:p.Ala202Thr					ZP2_uc002dii.2_Missense_Mutation_p.A202T|ZP2_uc010bwo.3_Missense_Mutation_p.A241T	p.A241T	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	803	-			202					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.721G>A	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319780	0.81469	.	.	ENSG00000103310	ENST00000219593	T	0.21543	2.0	5.32	5.32	0.75619	.	0.070845	0.64402	D	0.000018	T	0.48732	0.1516	M	0.81802	2.56	0.34990	D	0.754941	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.68943	0.961;0.935;0.935	T	0.64364	-0.6425	10	0.72032	D	0.01	-15.3813	16.1395	0.81513	0.0:1.0:0.0:0.0	.	202;202;202	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	T	202	ENSP00000219593:A202T	ENSP00000219593:A202T	A	-	1	0	ZP2	21124331	1.000000	0.71417	0.093000	0.20910	0.035000	0.12851	5.131000	0.64751	2.489000	0.83994	0.563000	0.77884	GCC		0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			T	21216830	C	T	21216830	3	4	279	1	0	0	0	0	1	0	0	0	18213	739	26	3	1685	3	ZP2	16	21216830	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		21216830	69137923	45	19984											
TAOK2	9344	broad.mit.edu	37	chr16	29990328	29990328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggaggtagagatcgCagctgtgacccacggggcgc	8	6	15	12	3	1	2	1	1	0	1	2	4	1	3	2	4	1	3	2	4	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:29990328C>T	ENST00000308893.4	+	6	1429	c.386C>T	c.(385-387)gCa>gTa	p.A129V	TAOK2_ENST00000279394.3_Missense_Mutation_p.A129V|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.A129V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTAGAGATCGCAGCTGTGACC	0.577																																						uc010bzm.2																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(385-387)gCa>gTa		Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.							101	97	99					16																	29990328		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29990328C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.386C>T	16.37:g.29990328C>T	ENSP00000310094:p.Ala129Val					BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.A129V|TAOK2_uc021tgf.1_Missense_Mutation_p.A129V|TAOK2_uc002dva.2_Missense_Mutation_p.A129V|TAOK2_uc002dvc.2_Missense_Mutation_p.A129V|TAOK2_uc002dvd.2_5'Flank	p.A129V	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			4	421	+			129			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.386C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829676	0.91036	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.23950	1.88;1.88;1.88	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058466	0.64402	D	0.000002	T	0.34629	0.0904	M	0.62209	1.925	0.80722	D	1	D;B;P;D	0.60575	0.988;0.261;0.503;0.969	P;B;B;P	0.45881	0.496;0.086;0.361;0.496	T	0.06570	-1.0819	9	.	.	.	.	18.3871	0.90470	0.0:1.0:0.0:0.0	.	313;129;129;129	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	V	129	ENSP00000310094:A129V;ENSP00000440336:A129V;ENSP00000279394:A129V	.	A	+	2	0	TAOK2	29897829	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.776000	0.85560	2.708000	0.92522	0.467000	0.42956	GCA		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		T	29990328	C	T	29990328	3	4	279	1	0	0	0	0	1	0	0	0	15545	710	25	3	404	3	TAOK2	16	29990328	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	8773498	29990328	60364425	46	19985											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cTg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							152	112	126					17																	7577538		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.3_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248L	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577538	C	A	7577538	3	1	279	1	0	0	0	0	1	0	0	0	16378	652	23	5	547	5	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		7577538	73617672	47	19986											
COPS3	8533	broad.mit.edu	37	chr17	17163668	17163668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgacaagcattgcttcaCcagccccatgttgttatcgc	10	11	8	12	1	1	2	1	1	0	1	2	2	1	2	3	0	3	4	3	0	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:17163668C>A	ENST00000268717.5	-	8	989	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	COPS3_ENST00000439936.2_Intron|COPS3_ENST00000539941.2_Missense_Mutation_p.V275L	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	295	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CATTGCTTCACCAGCCCCATG	0.488																																						uc002grd.3																			0				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(883-885)Gtg>Ttg		Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.							208	171	184					17																	17163668		2203	4300	6503	SO:0001583	missense	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17163668C>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3", "COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.883G>T	17.37:g.17163668C>A	ENSP00000268717:p.Val295Leu					COPS3_uc010vwv.2_Missense_Mutation_p.V275L|COPS3_uc010vww.2_Missense_Mutation_p.V165L	p.V295L	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN			7	1000	-			295			PCI.		B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	c.883G>T	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477444	0.96291	.	.	ENSG00000141030	ENST00000268717;ENST00000539941	T;T	0.27720	1.65;1.65	5.47	5.47	0.80525	Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.80508	2.5	0.80722	D	1	D	0.57899	0.981	D	0.66084	0.941	T	0.62282	-0.6887	10	0.62326	D	0.03	-26.0292	18.3076	0.90188	0.0:1.0:0.0:0.0	.	295	Q9UNS2	CSN3_HUMAN	L	295;275	ENSP00000268717:V295L;ENSP00000437606:V275L	ENSP00000268717:V295L	V	-	1	0	COPS3	17104393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.564000	0.86499	0.655000	0.94253	GTG		0.488	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			A	17163668	C	A	17163668	3	1	279	1	0	0	0	0	1	0	0	0	3734	507	18	5	408	5	COPS3	17	17163668	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	9586130	17163668	64031542	48	19987											
NF1	4763	broad.mit.edu	37	chr17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattgtgcaaaattaaaaCgactcctgaagggtaagttt	14	12	10	5	1	0	1	0	1	0	0	1	3	1	2	1	2	2	3	1	2	6	4	rs397514641		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:29497003C>T	ENST00000358273.4	+	5	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R192*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R192*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	192					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R192*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(2)	p.0?(8)|p.R192*(4)|p.?(4)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(3)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM000774	NF1	M		c.(574-576)Cga>Tga		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							73	74	74					17																	29497003		2203	4298	6501	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29497003C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.574C>T	17.37:g.29497003C>T	ENSP00000351015:p.Arg192*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Nonsense_Mutation_p.R192*|NF1_uc002hgf.2_Nonsense_Mutation_p.R192*|NF1_uc002hgh.3_Nonsense_Mutation_p.R192*|NF1_uc010csn.2_Intron	p.R192*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	957	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	192					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.574C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711613	0.96821	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.59	3.58	0.41010	.	0.064020	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.613	0.39674	0.2526:0.6804:0.0:0.067	.	.	.	.	X	192	.	ENSP00000348498:R192X	R	+	1	2	NF1	26521129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.602000	0.46257	0.712000	0.32039	0.591000	0.81541	CGA		0.284	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29497003	C	T	29497003	4	4	279	1	0	0	0	0	0	1	0	0	10356	528	19	1	592	1	NF1	17	29497003	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	12333335	29497003	51698207	49	19988											
CCL4	6351	broad.mit.edu	37	chr17	34432024	34432024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcagcctctgctcccaGccagctgtggtgtgagtatc	7	9	11	14	0	1	1	0	1	1	0	3	1	2	1	4	1	5	4	4	1	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:34432024G>A	ENST00000250151.4	+	2	496	c.180G>A	c.(178-180)caG>caA	p.Q60Q	CCL4_ENST00000394495.1_Intron	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	60					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCTCCCAGCCAGCTGTGG	0.572																																					Colon(139;824 1752 21188 21615 24765)	uc002hkw.1																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(178-180)caG>caA		Homo sapiens chemokine (C-C motif) ligand 4 (CCL4), transcript variant 1, mRNA.							45	42	43					17																	34432024		2203	4300	6503	SO:0001819	synonymous_variant	6351				cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	g.chr17:34432024G>A	M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"Chemokine ligands", "Endogenous ligands"	10630	protein-coding gene	gene with protein product		182284	"small inducible cytokine A4 (homologous to mouse Mip-1b)"	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.180G>A	17.37:g.34432024G>A						CCL4_uc002hkx.1_Intron	p.Q60Q	NM_002984	NP_002975	P13236	CCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	259	+		Ovarian(249;0.17)	60					P22617|Q13704|Q3SXL8|Q6FGI8	Silent	SNP	ENST00000250151.4	37	c.180G>A	CCDS11308.1																																																																																				0.572	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984		A	34432024	G	A	34432024	2	1	279	1	0	0	0	0	0	0	0	1	2902	962	34	3		3	CCL4	17	34432024	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	4935021	34432024	46763186	50	19989											
GH1	2688	broad.mit.edu	37	chr17	61995751	61995751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgcagacgatgggcGcggagcatagcgttgtcaaa	10	7	16	8	4	1	1	1	0	0	1	1	3	1	2	0	3	4	4	0	3	2	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:61995751G>A	ENST00000323322.5	-	2	168	c.126C>T	c.(124-126)cgC>cgT	p.R42R	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Silent_p.R42R|GH1_ENST00000458650.2_Silent_p.R42R|GH1_ENST00000342364.4_Silent_p.R42R	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	42			R -> C (in IGHD1B; reduced secretion). {ECO:0000269|PubMed:12655557}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.R42R(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GACGATGGGCGCGGAGCATAG	0.582																																						uc002jdj.3																			1	Substitution - coding silent(1)	p.R42R(2)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(124-126)cgC>cgT		Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.							161	169	166					17																	61995751		2203	4300	6503	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995751G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.126C>T	17.37:g.61995751G>A						GH1_uc002jdi.3_Silent_p.R42R|GH1_uc002jdk.3_Silent_p.R42R|GH1_uc002jdl.3_Silent_p.R42R|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.R42R	p.R42R	NM_000515	NP_000506	P01241	SOMA_HUMAN			1	188	-			42		R -> C (in IGHD1B; reduced secretion).			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.126C>T	CCDS11653.1																																																																																				0.582	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		A	61995751	G	A	61995751	2	1	279	1	0	0	0	0	0	0	0	1	6367	1074	38	1		1	GH1	17	61995751	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	27563727	61995751	19199459	51	19990											
LAMA1	284217	broad.mit.edu	37	chr18	7009321	7009321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacataaaatcctctcgCgtgacaggtttttcagaaac	14	10	7	10	2	2	3	1	1	1	2	4	3	3	3	1	1	1	1	1	1	3	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:7009321C>T	ENST00000389658.3	-	27	4011	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1306	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AATCCTCTCGCGTGACAGGTT	0.403																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3916-3918)acG>acA		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						105	100	102					18																	7009321		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7009321C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3918G>A	18.37:g.7009321C>T						LAMA1_uc010wzj.2_Silent_p.T782T	p.T1306T	NM_005559	NP_005550	P25391	LAMA1_HUMAN			26	4012	-		Colorectal(10;0.172)	1306			Laminin IV type A 2.			Silent	SNP	ENST00000389658.3	37	c.3918G>A	CCDS32787.1																																																																																				0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7009321	C	T	7009321	2	4	279	1	0	0	0	0	0	0	0	1	8605	755	27	1		1	LAMA1	18	7009321	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		7009321	71067927	52	19991											
ONECUT2	9480	broad.mit.edu	37	chr18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcccagaagaagtcccGcctggtgttcactgacctcc	9	9	8	15	1	1	3	1	1	0	2	4	3	4	3	5	1	0	1	5	1	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:55143729G>A	ENST00000491143.2	+	2	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	430					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R430H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517																																						uc002lgo.3																			2	Substitution - Missense(2)	p.R430H(4)	ovary(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(1288-1290)cGc>cAc		Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.							52	58	56					18																	55143729		2019	4199	6218	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143729G>A	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1289G>A	18.37:g.55143729G>A	ENSP00000419185:p.Arg430His						p.R430H	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	1321	+		Colorectal(73;0.234)	430						Missense_Mutation	SNP	ENST00000491143.2	37	c.1289G>A	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175033	0.94807	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91589	0.5285	9	0.72032	D	0.01	-21.7544	20.1323	0.98003	0.0:0.0:1.0:0.0	.	430	O95948	ONEC2_HUMAN	H	411;430	.	ENSP00000262095:R430H	R	+	2	0	ONECUT2	53294727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC		0.517	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			A	55143729	G	A	55143729	3	1	279	1	0	0	0	0	1	0	0	0	10869	1087	38	1	1295	1	ONECUT2	18	55143729	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	48134408	55143729	22933519	53	19992											
MATK	4145	broad.mit.edu	37	chr19	3779708	3779708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcacgtcatgacggccGtctcgtccaggaaggcctgg	7	7	14	13	4	3	1	2	1	1	0	5	3	4	3	3	5	0	0	3	5	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:3779708G>A	ENST00000310132.6	-	9	1228	c.830C>T	c.(829-831)aCg>aTg	p.T277M	MATK_ENST00000395040.2_Missense_Mutation_p.T236M|MATK_ENST00000585778.1_Missense_Mutation_p.T277M|MATK_ENST00000395045.2_Missense_Mutation_p.T278M	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGACGGCCGTCTCGTCCAG	0.677																																						uc002lyt.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(829-831)aCg>aTg		Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.							59	56	57					19																	3779708		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779708G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.830C>T	19.37:g.3779708G>A	ENSP00000308734:p.Thr277Met					MATK_uc002lyv.3_Missense_Mutation_p.T278M|MATK_uc002lyu.3_Missense_Mutation_p.T236M|MATK_uc010dtq.3_Missense_Mutation_p.T277M|JA611290_uc021umx.1_5'Flank	p.T277M	NM_139355	NP_647611	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1230	-		Hepatocellular(1079;0.137)	277			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.830C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900324	0.52227	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.61859	0.07;0.07;0.07	4.07	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.50120	0.1597	N	0.01417	-0.88	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.71255	-0.4647	10	0.87932	D	0	-27.3413	15.6441	0.77033	0.0:0.0:1.0:0.0	.	277;278;277	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	M	278;277;236	ENSP00000378485:T278M;ENSP00000308734:T277M;ENSP00000378481:T236M	ENSP00000308734:T277M	T	-	2	0	MATK	3730708	1.000000	0.71417	0.996000	0.52242	0.127000	0.20565	9.142000	0.94618	2.004000	0.58718	0.306000	0.20318	ACG		0.677	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		A	3779708	G	A	3779708	3	1	279	1	0	0	0	0	1	0	0	0	9332	1145	40	1	717	1	MATK	19	3779708	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		3779708	55349275	54	19993											
TUBB4	10382	broad.mit.edu	37	chr19	6495224	6495224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcgccctcctcggccGtggcgtcctggtactgctgg	3	9	13	16	5	0	0	0	0	0	0	4	1	2	0	4	4	3	2	4	4	2	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:6495224G>A	ENST00000264071.2	-	4	1657	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	TUBB4A_ENST00000540257.1_Missense_Mutation_p.T429M|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	429					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CTCCTCGGCCGTGGCGTCCTG	0.622																																						uc002mfg.1																			0											c.(1285-1287)aCg>aTg		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							80	74	76					19																	6495224		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495224G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1286C>T	19.37:g.6495224G>A	ENSP00000264071:p.Thr429Met					TUBB4A_uc002mff.1_Missense_Mutation_p.T357M|JA429441_uc021unq.1_5'Flank	p.T429M	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	1393	-			429					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1286C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378438	0.24944	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.72051	-0.62;-0.62	3.13	3.13	0.36017	.	0.000000	0.64402	U	0.000002	T	0.79100	0.4389	M	0.88842	2.985	0.53005	D	0.999965	D	0.57257	0.979	P	0.49085	0.6	D	0.84767	0.0765	10	0.87932	D	0	.	13.3769	0.60743	0.0:0.0:1.0:0.0	.	429	P04350	TBB4A_HUMAN	M	429;429;347	ENSP00000264071:T429M;ENSP00000443590:T429M	ENSP00000264071:T429M	T	-	2	0	TUBB4	6446224	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	9.645000	0.98471	1.473000	0.48159	0.306000	0.20318	ACG		0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495224	G	A	6495224	3	1	279	1	0	0	0	0	1	0	0	0	16755	1145	40	1	52	1	TUBB4	19	6495224	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	2715516	6495224	52633759	55	19994											
ZNF536	9745	broad.mit.edu	37	chr19	31039823	31039823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtgcatggaccggccaCgtggaccctgcattttgtaa	8	9	13	11	3	0	0	0	0	0	0	0	2	0	2	3	4	3	3	3	4	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:31039823C>T	ENST00000355537.3	+	4	3444	c.3297C>T	c.(3295-3297)caC>caT	p.H1099H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1099					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACCGGCCACGTGGACCCTG	0.542																																						uc002nsu.1																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3295-3297)caC>caT		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							84	96	92					19																	31039823		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039823C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3297C>T	19.37:g.31039823C>T						ZNF536_uc010edd.1_Silent_p.H1099H	p.H1099H	NM_014717	NP_055532	O15090	ZN536_HUMAN			3	3435	+	Esophageal squamous(110;0.0834)		1099					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3297C>T	CCDS32984.1																																																																																				0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	31039823	C	T	31039823	2	4	279	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	31039823	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	24544599	31039823	28089160	56	19995											
ZNF181	339318	broad.mit.edu	37	chr19	35232341	35232341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaactctatgagtgtcGtatatgtggaaaggccttca	14	11	10	6	1	2	2	1	1	1	1	3	3	2	3	1	2	1	1	1	2	6	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:35232341G>A	ENST00000492450.1	+	4	1144	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	ZNF181_ENST00000459757.2_Missense_Mutation_p.R351H|ZNF181_ENST00000392232.3_Missense_Mutation_p.R396H			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TATGAGTGTCGTATATGTGGA	0.373																																						uc002nvu.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1054-1056)cGt>cAt		Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.							65	64	64					19																	35232341		2203	4299	6502	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232341G>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1055G>A	19.37:g.35232341G>A	ENSP00000420727:p.Arg352His					ZNF181_uc010xsb.1_Missense_Mutation_p.R351H|ZNF181_uc010xsc.1_Missense_Mutation_p.R287H	p.R352H	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		3	1518	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		352					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1055G>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109167	0.37242	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.14893	2.47;2.47;2.47	2.99	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.04355	-0.22	0.09310	N	1	B;D	0.76494	0.007;0.999	B;D	0.64042	0.005;0.921	T	0.16988	-1.0384	9	0.59425	D	0.04	.	4.2822	0.10838	0.4082:0.3303:0.2615:0.0	.	351;352	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	H	396;351;352;351	ENSP00000376065:R396H;ENSP00000420727:R352H;ENSP00000419435:R351H	ENSP00000376065:R396H	R	+	2	0	ZNF181	39924181	0.000000	0.05858	0.770000	0.31555	0.996000	0.88848	-4.178000	0.00279	-0.496000	0.06650	0.561000	0.74099	CGT		0.373	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		A	35232341	G	A	35232341	3	1	279	1	0	0	0	0	1	0	0	0	17746	1145	40	1	1069	1	ZNF181	19	35232341	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	4192518	35232341	23896642	57	19996											
ZNF345	25850	broad.mit.edu	37	chr19	37367974	37367974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtccttgttcgacatcAgcgaattcatactggtgaga	11	12	9	9	2	3	1	3	1	0	1	5	4	4	1	1	1	2	1	1	1	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:37367974A>G	ENST00000529555.1	+	2	1030	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Q81R|ZNF345_ENST00000589046.1_Missense_Mutation_p.Q81R			Q14585	ZN345_HUMAN	zinc finger protein 345	81					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTCGACATCAGCGAATTCAT	0.398																																						uc002oex.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(241-243)cAg>cGg		Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.							106	111	110					19																	37367974		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37367974A>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.242A>G	19.37:g.37367974A>G	ENSP00000431202:p.Gln81Arg					ZNF345_uc021utn.1_Missense_Mutation_p.Q81R|ZNF345_uc002oey.4_Missense_Mutation_p.Q81R|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.Q81R|ZNF345_uc021utp.1_Missense_Mutation_p.Q81R|ZNF345_uc021utq.1_Missense_Mutation_p.Q81R	p.Q81R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	623	+	Esophageal squamous(110;0.183)		81						Missense_Mutation	SNP	ENST00000529555.1	37	c.242A>G	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543028	0.45280	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.07327	3.2;3.2;3.2	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	L	0.28649	0.875	0.20196	N	0.999927	P	0.35628	0.513	B	0.32677	0.15	T	0.31420	-0.9944	8	.	.	.	.	11.6537	0.51304	1.0:0.0:0.0:0.0	.	81	Q14585	ZN345_HUMAN	R	81	ENSP00000431216:Q81R;ENSP00000431202:Q81R;ENSP00000331120:Q81R	.	Q	+	2	0	ZNF345	42059814	0.059000	0.20769	1.000000	0.80357	0.999000	0.98932	3.452000	0.52971	1.902000	0.55061	0.533000	0.62120	CAG		0.398	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			G	37367974	A	G	37367974	3	3	279	1	0	0	0	0	1	0	0	0	17856	188	7	4	244	4	ZNF345	19	37367974	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	2135633	37367974	21761009	58	19997											
SLC17A7	57030	broad.mit.edu	37	chr19	49937876	49937876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacaaaaggctgtcgtcGccaggcgactccgttctaag	10	7	10	14	4	1	0	0	0	1	0	4	1	2	0	3	2	0	2	3	2	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:49937876G>A	ENST00000221485.3	-	5	791	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SLC17A7_ENST00000600601.1_Missense_Mutation_p.A140V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.A195V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	207					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCTGTCGTCGCCAGGCGACT	0.602																																						uc002pnp.3																			0		p.A207A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(619-621)gCg>gTg		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.							57	58	58					19																	49937876		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937876G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.620C>T	19.37:g.49937876G>A	ENSP00000221485:p.Ala207Val					SLC17A7_uc002pnq.1_Missense_Mutation_p.A140V|SLC17A7_uc002pno.3_5'UTR	p.A207V	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	4	792	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	207					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.620C>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280870	0.80692	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.55930	0.49;0.49	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000022	T	0.44932	0.1317	N	0.25031	0.7	0.80722	D	1	P;P	0.49783	0.928;0.85	P;P	0.45343	0.477;0.474	T	0.48328	-0.9045	10	0.54805	T	0.06	.	15.8135	0.78581	0.0:0.0:1.0:0.0	.	140;207	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	V	207;195	ENSP00000221485:A207V;ENSP00000441767:A195V	ENSP00000221485:A207V	A	-	2	0	SLC17A7	54629688	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.435000	0.97529	2.674000	0.91012	0.650000	0.86243	GCG		0.602	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			A	49937876	G	A	49937876	3	1	279	1	0	0	0	0	1	0	0	0	14422	1087	38	1	1094	1	SLC17A7	19	49937876	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	12569902	49937876	9191107	59	19998											
HNF4A	3172	broad.mit.edu	37	chr20	43034798	43034798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccacgggcaaacactaCggtgcctcgagctgtgacgg	8	5	15	13	5	0	1	0	1	0	0	1	2	0	1	2	4	4	2	2	4	2	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr20:43034798C>T	ENST00000316099.4	+	2	305	c.216C>T	c.(214-216)taC>taT	p.Y72Y	HNF4A_ENST00000316673.4_Silent_p.Y50Y|HNF4A_ENST00000609795.1_Silent_p.Y50Y|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000415691.2_Silent_p.Y72Y|HNF4A_ENST00000443598.2_Silent_p.Y72Y|HNF4A_ENST00000457232.1_Silent_p.Y50Y	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	72					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAACACTACGGTGCCTCGA	0.622																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(214-216)taC>taT		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							84	82	83					20																	43034798		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034798C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.216C>T	20.37:g.43034798C>T						HNF4A_uc010zwo.1_Missense_Mutation_p.T63M|HNF4A_uc002xlt.3_Silent_p.Y50Y|HNF4A_uc002xlu.3_Silent_p.Y50Y|HNF4A_uc002xlv.3_Silent_p.Y50Y|HNF4A_uc002xly.3_Silent_p.Y72Y|HNF4A_uc010ggq.3_Silent_p.Y65Y|HNF4A_uc002xlz.3_Silent_p.Y72Y|MIR3646_uc021wed.1_5'Flank	p.Y72Y	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	305	+		Myeloproliferative disorder(115;0.0122)	72					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.216C>T	CCDS13330.1																																																																																				0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			T	43034798	C	T	43034798	2	4	279	1	0	0	0	0	0	0	0	1	7253	547	19	1		1	HNF4A	20	43034798	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		43034798	19990722	60	19999											
ABCG1	9619	broad.mit.edu	37	chr21	43716431	43716431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggacttcatcgtactcGggattttcttcatctccctc	6	15	6	14	2	4	0	2	0	2	0	8	2	4	2	2	2	1	1	2	2	1	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr21:43716431G>A	ENST00000361802.2	+	15	2111	c.1966G>A	c.(1966-1968)Ggg>Agg	p.G656R	ABCG1_ENST00000343687.3_Missense_Mutation_p.G655R|ABCG1_ENST00000398449.3_Missense_Mutation_p.G644R|ABCG1_ENST00000347800.2_Missense_Mutation_p.G641R|ABCG1_ENST00000398457.2_Missense_Mutation_p.G646R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.G764R|ABCG1_ENST00000398437.1_Missense_Mutation_p.G802R	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	656	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CATCGTACTCGGGATTTTCTT	0.522																																						uc011aev.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1999-2001)Ggg>Agg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	Adenosine triphosphate(DB00171)						143	141	142					21																	43716431		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43716431G>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1966G>A	21.37:g.43716431G>A	ENSP00000354995:p.Gly656Arg					ABCG1_uc002zam.3_Missense_Mutation_p.G622R|ABCG1_uc002zan.3_Missense_Mutation_p.G646R|ABCG1_uc002zao.3_Missense_Mutation_p.G641R|ABCG1_uc002zap.3_Missense_Mutation_p.G644R|ABCG1_uc002zaq.3_Missense_Mutation_p.G656R|ABCG1_uc002zar.3_Missense_Mutation_p.G655R|AL355711_uc002zau.3_5'Flank	p.G667R	NM_004915	NP_004906	P45844	ABCG1_HUMAN			14	2073	+			656			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1999G>A	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867844	0.51588	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.94	4.94	0.65067	.	0.142348	0.48286	D	0.000196	T	0.45657	0.1353	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D;D	0.76494	0.981;0.989;0.992;0.959;0.959;0.999	P;P;P;P;P;P	0.62649	0.551;0.738;0.657;0.656;0.656;0.905	T	0.51204	-0.8735	9	.	.	.	-35.1524	18.5538	0.91075	0.0:0.0:1.0:0.0	.	667;655;656;644;641;646	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	R	646;641;644;656;655;802;764	ENSP00000381475:G646R;ENSP00000291524:G641R;ENSP00000381467:G644R;ENSP00000354995:G656R;ENSP00000339744:G655R;ENSP00000381464:G802R;ENSP00000343820:G764R	.	G	+	1	0	ABCG1	42589500	1.000000	0.71417	0.501000	0.27601	0.144000	0.21451	7.521000	0.81832	2.440000	0.82611	0.655000	0.94253	GGG		0.522	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		A	43716431	G	A	43716431	3	1	279	1	0	0	0	0	1	0	0	0	68	1116	39	2	2192	2	ABCG1	21	43716431	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		43716431	4413464	61	20000											
HPS4	89781	broad.mit.edu	37	chr22	26860320	26860320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagcagagggagggcGcaagctgctgatggctgtgt	8	7	18	8	1	1	2	1	1	0	1	1	4	1	4	0	4	3	5	0	4	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:26860320G>A	ENST00000398145.2	-	11	1892	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.R426C|HPS4_ENST00000402105.3_Missense_Mutation_p.R421C|HPS4_ENST00000398141.1_Missense_Mutation_p.R439C	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	426					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGGGAGGGCGCAAGCTGCTG	0.622									Hermansky-Pudlak syndrome																													uc003acl.3																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1276-1278)Cgc>Tgc		Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.							79	71	74					22																	26860320		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860320G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1276C>T	22.37:g.26860320G>A	ENSP00000381213:p.Arg426Cys					HPS4_uc003aci.3_Missense_Mutation_p.R421C|HPS4_uc003acj.3_Missense_Mutation_p.R290C|HPS4_uc003ack.3_Missense_Mutation_p.R217C|HPS4_uc003acn.3_Missense_Mutation_p.R272C|HPS4_uc010gvd.1_Missense_Mutation_p.R444C|HPS4_uc003ach.3_Missense_Mutation_p.R161C	p.R426C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			10	1935	-			426					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1276C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242881	0.22796	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.55413	1.52;1.52;1.52;1.52;0.52	3.83	0.544	0.17185	.	1.843430	0.02693	N	0.110921	T	0.37100	0.0991	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;B	0.45078	0.688;0.688;0.688;0.688;0.85;0.379	B;B;B;B;B;B	0.37780	0.258;0.172;0.172;0.172;0.235;0.172	T	0.31861	-0.9928	10	0.38643	T	0.18	-0.1474	6.2266	0.20711	0.327:0.0:0.673:0.0	.	426;426;426;426;439;421	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	C	426;439;421;426;444;444	ENSP00000381213:R426C;ENSP00000381210:R439C;ENSP00000384185:R421C;ENSP00000338457:R426C;ENSP00000415081:R444C	ENSP00000325840:R444C	R	-	1	0	HPS4	25190320	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.675000	0.25232	0.213000	0.20722	-0.150000	0.13652	CGC		0.622	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		A	26860320	G	A	26860320	3	1	279	1	0	0	0	0	1	0	0	0	7341	1087	38	1	866	1	HPS4	22	26860320	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		26860320	24444246	62	20001											
PANX2	56666	broad.mit.edu	37	chr22	50617533	50617533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcctgagccgaaacGccacacacccgctgctgcac	10	5	7	19	3	1	1	1	1	0	0	2	2	2	1	5	0	4	3	5	0	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:50617533G>A	ENST00000395842.2	+	3	1861	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	PANX2_ENST00000159647.5_Missense_Mutation_p.A621T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	621					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCCGAAACGCCACACACCC	0.711																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1861-1863)Gcc>Acc		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							41	39	39					22																	50617533		2197	4296	6493	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617533G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1861G>A	22.37:g.50617533G>A	ENSP00000379183:p.Ala621Thr					PANX2_uc003bjp.4_Missense_Mutation_p.A487T|PANX2_uc003bjo.4_Missense_Mutation_p.A621T	p.A621T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1861	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	621					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1861G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916129	0.52546	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.25579	1.79;1.82	3.72	1.38	0.22167	.	0.624611	0.14761	N	0.299992	T	0.13586	0.0329	N	0.24115	0.695	0.32553	N	0.532106	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.11203	-1.0597	10	0.48119	T	0.1	-19.4173	2.8178	0.05463	0.1128:0.3507:0.3931:0.1434	.	621;621	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	621;621;298	ENSP00000159647:A621T;ENSP00000379183:A621T	ENSP00000159647:A621T	A	+	1	0	PANX2	48959660	0.969000	0.33509	0.926000	0.36857	0.841000	0.47740	1.659000	0.37387	0.907000	0.36646	0.313000	0.20887	GCC		0.711	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50617533	G	A	50617533	3	1	279	1	0	0	0	0	1	0	0	0	11421	1087	38	1	1871	1	PANX2	22	50617533	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	23757213	50617533	687033	63	20002											
MXRA5	25878	broad.mit.edu	37	chrX	3241682	3241682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcctttgcacctgggcGtctgcctcttttggatggca	6	12	12	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	2	3	3	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:3241682G>A	ENST00000217939.6	-	5	2198	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCTGGGCGTCTGCCTCTT	0.532																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2044-2046)Cgc>Tgc		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							79	73	75					X																	3241682		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241682G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2044C>T	X.37:g.3241682G>A	ENSP00000217939:p.Arg682Cys						p.R682C	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	2201	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	682					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2044C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738176	0.30774	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66815	-0.23	3.48	3.48	0.39840	.	0.561089	0.14863	U	0.293997	T	0.58779	0.2146	N	0.08118	0	0.31286	N	0.689964	D	0.76494	0.999	P	0.54924	0.764	T	0.64728	-0.6339	10	0.56958	D	0.05	.	13.0265	0.58819	0.0:0.0:1.0:0.0	.	682	Q9NR99	MXRA5_HUMAN	C	682	ENSP00000217939:R682C	ENSP00000217939:R682C	R	-	1	0	MXRA5	3251682	0.995000	0.38212	0.006000	0.13384	0.006000	0.05464	2.998000	0.49465	1.370000	0.46153	0.529000	0.55759	CGC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3241682	G	A	3241682	3	1	279	1	0	0	0	0	1	0	0	0	10003	1145	40	1	6454	1	MXRA5	23	3241682	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		3241682	152028878	64	20003											
FRMPD4	9758	broad.mit.edu	37	chrX	12712508	12712508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttccgaattagcttcGtcccaaaagatccaattgac	11	13	6	11	2	1	2	0	1	1	1	5	3	4	2	3	0	1	1	3	0	5	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:12712508G>A	ENST00000380682.1	+	9	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(868-870)Gtc>Atc		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							147	113	124					X																	12712508		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12712508G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.868G>A	X.37:g.12712508G>A	ENSP00000370057:p.Val290Ile					FRMPD4_uc011mij.2_Missense_Mutation_p.V282I	p.V290I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			8	1374	+			290			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.868G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440245	0.43326	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06068	3.35	5.15	3.36	0.38483	Band 4.1 domain (1);FERM domain (1);	0.135275	0.48286	D	0.000188	T	0.05547	0.0146	N	0.19112	0.55	0.28983	N	0.888546	P;B	0.48764	0.915;0.341	P;B	0.45276	0.475;0.06	T	0.18681	-1.0329	10	0.39692	T	0.17	.	9.521	0.39135	0.0764:0.0:0.7811:0.1425	.	282;290	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	290;281;279	ENSP00000370057:V290I	ENSP00000304583:V279I	V	+	1	0	FRMPD4	12622429	1.000000	0.71417	0.921000	0.36526	0.912000	0.54170	3.437000	0.52863	0.486000	0.27676	-0.237000	0.12165	GTC		0.413	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12712508	G	A	12712508	3	1	279	1	0	0	0	0	1	0	0	0	6059	1145	40	1	902	1	FRMPD4	23	12712508	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	9470826	12712508	142558052	65	20004											
YY2	404281	broad.mit.edu	37	chrX	21875300	21875300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgatctctcagatcctaAacagctggcagaatttacta	13	12	6	10	0	2	3	1	1	1	2	4	3	3	3	1	1	3	2	1	1	5	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:21875300A>G	ENST00000429584.2	+	1	1196	c.698A>G	c.(697-699)aAa>aGa	p.K233R	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAGATCCTAAACAGCTGGCA	0.488																																						uc011mjp.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(697-699)aAa>aGa		Homo sapiens YY2 transcription factor (YY2), mRNA.							120	133	129					X																	21875300		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875300A>G	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.698A>G	X.37:g.21875300A>G	ENSP00000389381:p.Lys233Arg					MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	p.K233R	NM_206923	NP_996806	O15391	TYY2_HUMAN			0	1196	+			233					B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.698A>G	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225152	0.58668	.	.	ENSG00000230797	ENST00000429584	T	0.12465	2.68	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	T	0.33469	0.0864	M	0.67700	2.07	0.52099	D	0.999945	D	0.89917	1.0	D	0.83275	0.996	T	0.03969	-1.0988	10	0.56958	D	0.05	.	11.3809	0.49757	1.0:0.0:0.0:0.0	.	233	O15391	TYY2_HUMAN	R	233	ENSP00000389381:K233R	ENSP00000389381:K233R	K	+	2	0	YY2	21785221	1.000000	0.71417	0.980000	0.43619	0.103000	0.19146	4.736000	0.62059	1.888000	0.54679	0.486000	0.48141	AAA		0.488	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		G	21875300	A	G	21875300	3	3	279	1	0	0	0	0	1	0	0	0	17506	14	1	4	700	4	YY2	23	21875300	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	9162792	21875300	133395260	66	20005											
MED12	9968	broad.mit.edu	37	chrX	70341522	70341523	+	Frame_Shift_Del	DEL	TA	TA	-																															agcagtcactcatctcatgtTatatctgctcagtcaacaag																										TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70341522_70341523delTA	ENST00000374080.3	+	7	989_990	c.957_958delTA	c.(955-960)gttatafs	p.I320fs	MED12_ENST00000333646.6_Frame_Shift_Del_p.I320fs|MED12_ENST00000374102.1_Frame_Shift_Del_p.I320fs			Q93074	MED12_HUMAN	mediator complex subunit 12	320					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCTCATGTTATATCTGCTCA	0.554			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(955-960)gttatafs		Homo sapiens mediator complex subunit 12 (MED12), mRNA.																																				SO:0001589	frameshift_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341522_70341523delTA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.957_958delTA	X.37:g.70341524_70341525delTA	ENSP00000363193:p.Ile320fs					MED12_uc011mpq.1_Frame_Shift_Del_p.V319fs|MED12_uc004dyz.3_Frame_Shift_Del_p.V319fs|MED12_uc004dza.3_Frame_Shift_Del_p.V166fs	p.V319fs	NM_005120	NP_005111	Q93074	MED12_HUMAN			6	1156_1157	+	Renal(35;0.156)		319					O15410|O75557|Q9UHV6|Q9UND7	Frame_Shift_Del	DEL	ENST00000374080.3	37	c.957_958delTA	CCDS43970.1																																																																																				0.554	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		-	70341523	TA	-	70341522	7	5	279	1	0	1	0	1	0	0	0	0	9428	1741	61	0	983	0	MED12	23	70341522	Frame_Shift_Del	DEL	TA	TCGA-76-6663-01A-11D-1845-08	48466222	70341522	84929038	67	20006											
ACRC	93953	broad.mit.edu	37	chrX	70824283	70824283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagcaaaccaccaagtgatCctgaggctaaccctgaagtt	13	8	8	12	0	1	3	1	3	0	0	2	3	2	3	4	1	3	3	4	1	4	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70824283C>T	ENST00000373695.1	+	7	1693	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	ACRC_ENST00000373696.3_Missense_Mutation_p.P386S			Q96QF7	ACRC_HUMAN	acidic repeat containing	386						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACCAAGTGATCCTGAGGCTAA	0.498																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1156-1158)Cct>Tct		Homo sapiens acidic repeat containing (ACRC), mRNA.							50	37	41					X																	70824283		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824283C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1156C>T	X.37:g.70824283C>T	ENSP00000362799:p.Pro386Ser					BCYRN1_uc011mpt.1_Intron	p.P386S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			7	1657	+	Renal(35;0.156)		386					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1156C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	8.649	0.897761	0.17686	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	3.5	-1.97	0.07503	.	.	.	.	.	T	0.21801	0.0525	L	0.29908	0.895	0.09310	N	1	P	0.38504	0.634	B	0.35510	0.204	T	0.15549	-1.0433	9	0.24483	T	0.36	.	9.4314	0.38612	0.1199:0.6539:0.2262:0.0	.	386	Q96QF7	ACRC_HUMAN	S	386	ENSP00000362800:P386S;ENSP00000362799:P386S	ENSP00000362799:P386S	P	+	1	0	ACRC	70741008	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.833000	0.01695	-0.634000	0.05538	0.600000	0.82982	CCT		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			T	70824283	C	T	70824283	3	4	279	1	0	0	0	0	1	0	0	0	171	855	30	3	1182	3	ACRC	23	70824283	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	482761	70824283	84446277	68	20007											
DRP2	1821	broad.mit.edu	37	chrX	100490945	100490945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggtctgttggtgcctctGgacccctggaaccaccagcc	6	8	12	15	1	2	0	0	0	2	0	2	2	2	2	6	4	3	1	6	4	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:100490945G>C	ENST00000395209.3	+	4	741	c.214G>C	c.(214-216)Gga>Cga	p.G72R	DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.G72R|DRP2_ENST00000538510.1_Missense_Mutation_p.G72R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	72					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGTGCCTCTGGACCCCTGGA	0.522																																						uc004egz.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(214-216)Gga>Cga		Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.							167	138	148					X																	100490945		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100490945G>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.214G>C	X.37:g.100490945G>C	ENSP00000378635:p.Gly72Arg					DRP2_uc011mrh.1_5'UTR	p.G72R	NM_001939	NP_001164655	Q13474	DRP2_HUMAN			3	583	+			72					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.214G>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063501	0.20067	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.07567	3.18;3.18;3.18	5.55	3.8	0.43715	.	0.150864	0.43110	N	0.000603	T	0.05914	0.0154	N	0.16478	0.41	0.24593	N	0.993819	B	0.06786	0.001	B	0.06405	0.002	T	0.30001	-0.9993	10	0.54805	T	0.06	-2.1169	10.4791	0.44682	0.222:0.0:0.778:0.0	.	72	Q13474	DRP2_HUMAN	R	72	ENSP00000385038:G72R;ENSP00000378635:G72R;ENSP00000441051:G72R	ENSP00000362007:G72R	G	+	1	0	DRP2	100377601	0.897000	0.30589	0.054000	0.19295	0.452000	0.32318	1.148000	0.31614	0.690000	0.31570	0.600000	0.82982	GGA		0.522	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		C	100490945	G	C	100490945	3	2	279	1	0	0	0	0	1	0	0	0	4764	1349	47	5	220	5	DRP2	23	100490945	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	29666662	100490945	54779615	69	20008											
TBC1D8B	54885	broad.mit.edu	37	chrX	106066520	106066521	+	Frame_Shift_Del	DEL	AG	AG	-																															acttcaaatgtcatactgacAgagagtattcacgtgtgttc																										TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:106066520_106066521delAG	ENST00000357242.5	+	5	825_826	c.651_652delAG	c.(649-654)acagagfs	p.E218fs	TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.E218fs|TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.E218fs|TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.E218fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	218							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E218fs*21(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATACTGACAGAGAGTATTCA	0.361																																						uc004emo.3																			2	Insertion - Frameshift(2)	p.E218fs*21(4)	liver(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(649-654)acagagfs		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.			,	0,3721		0,0,0,1592,537					,	5.8	1			86	5,6479		1,1,2,2355,1768	no	frameshift,frameshift	TBC1D8B	NM_198881.1,NM_017752.2	,	1,1,2,3947,2305	A1A1,A1R,A1,RR,R		0.0771,0.0,0.049	,	,		5,10200				SO:0001589	frameshift_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106066520_106066521delAG	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.651_652delAG	X.37:g.106066524_106066525delAG	ENSP00000349781:p.Glu218fs					MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Frame_Shift_Del_p.T217fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.T217fs	p.T217fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			4	816_817	+			217					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Frame_Shift_Del	DEL	ENST00000357242.5	37	c.651_652delAG	CCDS14522.1																																																																																				0.361	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		-	106066521	AG	-	106066520	7	5	279	1	0	1	0	1	0	0	0	0	15623	175	7	0	669	0	TBC1D8B	23	106066520	Frame_Shift_Del	DEL	AG	TCGA-76-6663-01A-11D-1845-08	5575575	106066520	49204040	70	20009											
MID2	11043	broad.mit.edu	37	chrX	107160962	107160962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagattggccggggcGccacgaggcaagtgtttgta	8	9	15	9	3	1	1	1	0	0	1	1	2	1	1	2	4	1	4	2	4	3	3	rs534271877		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:107160962G>A	ENST00000262843.6	+	7	1976	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	476	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.A456A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGGCCGGGGCGCCACGAGGCA	0.483													G|||	7	0.0018543	0	0	3775	,	,		15961	0		0	False		,,,				2504	0.0072					uc004enl.3																			1	Substitution - coding silent(1)	p.A456A(1)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1426-1428)gcG>gcA		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							107	90	96					X																	107160962		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160962G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1428G>A	X.37:g.107160962G>A						MID2_uc004enk.3_Intron	p.A476A	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			6	2001	+			476			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.1428G>A	CCDS14532.2																																																																																				0.483	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		A	107160962	G	A	107160962	2	1	279	1	0	0	0	0	0	0	0	1	9578	1074	38	1		1	MID2	23	107160962	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	1094442	107160962	48109598	71	20010											
ZNF75D	7626	broad.mit.edu	37	chrX	134428042	134428042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggggcttgagcatgaatCcgcgttcagctctctcatcg	6	11	12	12	3	3	2	2	2	1	0	6	2	4	2	1	2	2	4	1	2	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:134428042C>T	ENST00000370766.3	-	3	2734	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.D9N	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	9					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGCATGAATCCGCGTTCAGC	0.478																																						uc022ceq.1																			0		p.A8T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(25-27)Gat>Aat		Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.							124	130	128					X																	134428042		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134428042C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.25G>A	X.37:g.134428042C>T	ENSP00000359802:p.Asp9Asn					DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.D9N	p.D9N	NM_007131	NP_009062	P51815	ZN75D_HUMAN			1	415	-			9					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.25G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545278	0.27652	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06449	3.3;3.3	3.17	-0.193	0.13244	.	.	.	.	.	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.002;0.003	T	0.48559	-0.9025	9	0.19147	T	0.46	.	5.9427	0.19201	0.0:0.5905:0.0:0.4095	.	9;9	P51815;A6NK62	ZN75D_HUMAN;.	N	9	ENSP00000359802:D9N;ENSP00000359800:D9N	ENSP00000359800:D9N	D	-	1	0	ZNF75D	134255708	0.023000	0.18921	0.000000	0.03702	0.010000	0.07245	0.633000	0.24598	-0.163000	0.10946	0.513000	0.50165	GAT		0.478	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		T	134428042	C	T	134428042	3	4	279	1	0	0	0	0	1	0	0	0	18131	855	30	3	1527	3	ZNF75D	23	134428042	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	27267080	134428042	20842518	72	20011											
PDZD4	57595	broad.mit.edu	37	chrX	153069697	153069697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgctgcggcagctctccCcagtgttgtaggcgctggtg	3	10	17	11	2	1	0	0	0	1	0	2	0	1	0	2	4	3	6	2	4	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:153069697C>G	ENST00000164640.4	-	8	1612	c.1421G>C	c.(1420-1422)gGg>gCg	p.G474A	PDZD4_ENST00000544474.1_Missense_Mutation_p.G365A|PDZD4_ENST00000393758.2_Missense_Mutation_p.G399A|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	474						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCTCCCCAGTGTTGTA	0.682																																						uc004fja.1																			0		p.T480T(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1438-1440)gGg>gCg		Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.							13	16	15					X																	153069697		2192	4273	6465	SO:0001583	missense	57595					cell cortex		g.chrX:153069697C>G	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1421G>C	X.37:g.153069697C>G	ENSP00000164640:p.Gly474Ala					PDZD4_uc004fiy.1_Missense_Mutation_p.G399A|PDZD4_uc004fiz.1_Missense_Mutation_p.G474A|PDZD4_uc004fix.2_Missense_Mutation_p.G378A|PDZD4_uc011mze.1_Missense_Mutation_p.G365A|PDZD4_uc022chy.1_5'Flank	p.G480A	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			7	1689	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		474					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1439G>C	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832032	0.32421	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.07216	3.21;3.24;3.47	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	L	0.29908	0.895	0.58432	D	0.999999	P;D;D;D;P	0.89917	0.923;0.995;1.0;1.0;0.923	P;D;D;D;P	0.91635	0.545;0.968;0.999;0.999;0.545	T	0.13442	-1.0509	10	0.19147	T	0.46	-47.8417	16.4496	0.83976	0.0:1.0:0.0:0.0	.	365;480;474;399;378	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	A	474;399;378;365	ENSP00000164640:G474A;ENSP00000377355:G399A;ENSP00000442033:G365A	ENSP00000164640:G474A	G	-	2	0	PDZD4	152722891	0.993000	0.37304	0.227000	0.23927	0.855000	0.48748	3.237000	0.51344	2.139000	0.66308	0.436000	0.28706	GGG		0.682	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		G	153069697	C	G	153069697	3	3	279	1	0	0	0	0	1	0	0	0	11703	623	22	5	892	5	PDZD4	23	153069697	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	18641655	153069697	2200863	73	20012											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887475	12887475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcttgacccatagaaGgaggcaggtgaggtattcat	10	10	12	9	0	2	3	1	2	1	1	2	4	2	4	2	4	1	3	2	4	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:12887475G>T	ENST00000535591.1	-	3	577	c.382C>A	c.(382-384)Ctt>Att	p.L128I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	128					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACCCATAGAAGGAGGCAGGTG	0.468																																						uc001auk.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(382-384)Ctt>Att		Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.																																				SO:0001583	missense	440560							g.chr1:12887475G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.382C>A	1.37:g.12887475G>T	ENSP00000439551:p.Leu128Ile						p.L128I	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			2	578	-			128						Missense_Mutation	SNP	ENST00000535591.1	37	c.382C>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	3.619	-0.077872	0.07184	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05649	3.41;3.41	1.48	-2.96	0.05547	.	1.165010	0.06325	N	0.705157	T	0.07279	0.0184	L	0.56280	1.765	0.09310	N	1	P	0.46952	0.887	B	0.43990	0.438	T	0.10520	-1.0626	10	0.34782	T	0.22	.	2.4408	0.04494	0.2952:0.0:0.3543:0.3505	.	128	O60813	PRA11_HUMAN	I	128;169;128	ENSP00000439551:L128I;ENSP00000391839:L128I	ENSP00000328783:L169I	L	-	1	0	PRAMEF11	12810062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.880000	0.00715	-1.610000	0.01583	-0.498000	0.04607	CTT		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		T	12887475	G	T	12887475	3	4	280	1	0	0	0	0	1	0	0	0	12427	1000	35	5	936	5	PRAMEF11	1	12887475	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		12887475	236363146	1	20013											
B4GALT2	8704	broad.mit.edu	37	chr1	44446914	44446914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcacttcctcgtggccGtcatcctctactttgacgtc	4	14	8	15	3	2	1	1	1	1	0	6	1	4	1	3	1	3	2	3	1	1	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:44446914G>A	ENST00000356836.6	+	2	872	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	B4GALT2_ENST00000309519.7_Missense_Mutation_p.V57I|B4GALT2_ENST00000372324.1_Missense_Mutation_p.V28I|B4GALT2_ENST00000434555.2_5'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	28					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCTCGTGGCCGTCATCCTCTA	0.662																																						uc010okl.2																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(169-171)Gtc>Atc		Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	N-Acetyl-D-glucosamine(DB00141)						100	82	88					1																	44446914		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446914G>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.82G>A	1.37:g.44446914G>A	ENSP00000349293:p.Val28Ile					B4GALT2_uc001clg.3_Missense_Mutation_p.V28I|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.V28I	p.V57I	NM_030587	NP_085076	O60909	B4GT2_HUMAN			1	245	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	28					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.169G>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986218	0.53934	.	.	ENSG00000117411	ENST00000372324;ENST00000356836;ENST00000309519	T;T;T	0.44083	0.96;0.96;0.93	4.68	3.77	0.43336	.	0.087086	0.46145	D	0.000301	T	0.19127	0.0459	N	0.14661	0.345	0.35984	D	0.836249	B;P	0.34587	0.023;0.458	B;B	0.25614	0.003;0.062	T	0.17107	-1.0380	10	0.25751	T	0.34	-28.7731	5.9527	0.19255	0.3502:0.0:0.6498:0.0	.	57;28	B4DE14;O60909	.;B4GT2_HUMAN	I	28;28;57	ENSP00000361399:V28I;ENSP00000349293:V28I;ENSP00000310696:V57I	ENSP00000310696:V57I	V	+	1	0	B4GALT2	44219501	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.405000	0.59741	0.954000	0.37851	0.655000	0.94253	GTC		0.662	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		A	44446914	G	A	44446914	3	1	280	1	0	0	0	0	1	0	0	0	1271	1145	40	1	84	1	B4GALT2	1	44446914	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	31559439	44446914	204803707	2	20014											
PPM1J	333926	broad.mit.edu	37	chr1	113255057	113255057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacttggtggccacgcCgctcccgggccatctgctca	4	8	10	19	3	2	0	1	0	1	0	4	0	4	0	6	3	1	2	6	3	0	1	rs201845248		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:113255057C>T	ENST00000309276.6	-	4	927	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RP11-426L16.10_ENST00000606505.1_5'Flank|RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000464951.1_Missense_Mutation_p.R45Q|PPM1J_ENST00000359994.4_Missense_Mutation_p.R45Q	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	251	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCACGCCGCTCCCGGGC	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		16164	0		0	False		,,,				2504	0					uc001ect.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(751-753)cGg>cAg		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.							52	45	47					1																	113255057		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113255057C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.752G>A	1.37:g.113255057C>T	ENSP00000308926:p.Arg251Gln					PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.R45Q	p.R251Q	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	779	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	251			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.752G>A	CCDS855.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.29	2.790115	0.50102	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.17854	2.25;2.25	5.61	2.27	0.28462	Protein phosphatase 2C-like (5);	0.516121	0.21768	N	0.069402	T	0.04588	0.0125	L	0.31157	0.91	0.31512	N	0.663464	B;B	0.32365	0.141;0.367	B;B	0.26094	0.013;0.066	T	0.24368	-1.0162	10	0.51188	T	0.08	-0.7235	11.7535	0.51862	0.0:0.7693:0.0:0.2307	.	251;45	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	Q	251;45	ENSP00000308926:R251Q;ENSP00000353088:R45Q	ENSP00000308926:R251Q	R	-	2	0	PPM1J	113056580	0.981000	0.34729	0.914000	0.36105	0.932000	0.56968	2.189000	0.42621	0.728000	0.32382	0.462000	0.41574	CGG		0.617	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		T	113255057	C	T	113255057	3	4	280	1	0	0	0	0	1	0	0	0	12342	652	23	2	793	2	PPM1J	1	113255057	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	68808143	113255057	135995564	3	20015											
KCNK3	3777	broad.mit.edu	37	chr2	26950539	26950539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccactttcccccaggctaCgggcacgcggcacccagcac	7	5	9	20	3	0	0	0	0	0	0	2	0	2	0	4	3	2	4	4	3	1	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:26950539C>T	ENST00000302909.3	+	2	413	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	96					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CCCCAGGCTACGGGCACGCGG	0.632																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(286-288)taC>taT		Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.							125	131	129					2																	26950539		2203	4300	6503	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950539C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.288C>T	2.37:g.26950539C>T							p.Y96Y	NM_002246	NP_002237	O14649	KCNK3_HUMAN			1	451	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		96					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.288C>T	CCDS1727.1																																																																																				0.632	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		T	26950539	C	T	26950539	2	4	280	1	0	0	0	0	0	0	0	1	8067	547	19	1		1	KCNK3	2	26950539	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		26950539	216248834	4	20016											
DDX18	8886	broad.mit.edu	37	chr2	118587017	118587017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctctgtcatttggtttCaaggtgcctcccttcgttga	4	17	10	10	1	3	1	2	1	1	0	5	1	4	1	2	2	2	4	2	2	1	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:118587017C>A	ENST00000263239.2	+	13	1973	c.1845C>A	c.(1843-1845)ttC>ttA	p.F615L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	615					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTGGTTTCAAGGTGCCTC	0.398																																						uc002tlh.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1843-1845)ttC>ttA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.							158	150	153					2																	118587017		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118587017C>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1845C>A	2.37:g.118587017C>A	ENSP00000263239:p.Phe615Leu						p.F615L	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			12	1944	+			615					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1845C>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646583	0.47258	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.01252	5.1	4.67	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.01254	0.0041	L	0.33093	0.98	0.58432	D	0.999994	B	0.18968	0.032	B	0.23275	0.045	T	0.56032	-0.8046	10	0.14656	T	0.56	-1.4589	7.6905	0.28565	0.0:0.6176:0.0:0.3824	.	615	Q9NVP1	DDX18_HUMAN	L	615;354	ENSP00000263239:F615L	ENSP00000263239:F615L	F	+	3	2	DDX18	118303487	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.764000	0.38471	0.290000	0.22444	-0.143000	0.13931	TTC		0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		A	118587017	C	A	118587017	3	1	280	1	0	0	0	0	1	0	0	0	4345	825	29	5	1895	5	DDX18	2	118587017	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	91636478	118587017	124612356	5	20017											
UBP1	7342	broad.mit.edu	37	chr3	33454282	33454282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgatgctctgtgtatTgtagccgtctgtcatggaat	6	16	12	7	1	3	1	1	1	2	0	3	2	3	2	1	1	3	5	1	1	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:33454282T>C	ENST00000283629.3	-	4	909	c.380A>G	c.(379-381)cAa>cGa	p.Q127R	UBP1_ENST00000283628.5_Missense_Mutation_p.Q127R|UBP1_ENST00000447368.2_Missense_Mutation_p.Q127R|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	127					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTCTGTGTATTGTAGCCGTCT	0.438																																						uc003cfq.4																			0		p.L126L(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(379-381)cAa>cGa		Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.							278	248	258					3																	33454282		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33454282T>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.380A>G	3.37:g.33454282T>C	ENSP00000283629:p.Gln127Arg					UBP1_uc003cfr.4_Missense_Mutation_p.Q127R|UBP1_uc010hga.3_Missense_Mutation_p.Q127R	p.Q127R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			3	910	-			127					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.380A>G	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755286	0.69648	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	6.17	5.03	0.67393	CP2 transcription factor (1);	0.056721	0.64402	D	0.000001	T	0.27349	0.0671	M	0.78456	2.415	0.80722	D	1	B;B	0.22983	0.021;0.078	B;B	0.33690	0.016;0.168	T	0.09640	-1.0665	10	0.87932	D	0	-14.1663	11.8368	0.52330	0.0:0.0673:0.0:0.9327	.	127;127	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	R	127	ENSP00000283629:Q127R;ENSP00000395558:Q127R;ENSP00000283628:Q127R;ENSP00000401614:Q127R	ENSP00000283628:Q127R	Q	-	2	0	UBP1	33429286	1.000000	0.71417	0.862000	0.33874	0.998000	0.95712	6.288000	0.72679	2.371000	0.80710	0.533000	0.62120	CAA		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		C	33454282	T	C	33454282	3	2	280	1	0	0	0	0	1	0	0	0	16892	1812	63	4	1294	4	UBP1	3	33454282	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		33454282	164568148	6	20018											
TMF1	7110	broad.mit.edu	37	chr3	69097485	69097485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcacttcttcttctggtCgttgtgattttgctggaggt	3	21	10	7	1	4	1	1	1	3	0	5	2	4	2	0	3	1	2	0	3	0	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:69097485C>T	ENST00000398559.2	-	2	587	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R124Q|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	124					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTTCTGGTCGTTGTGATTT	0.418																																						uc011bfx.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(370-372)cGa>cAa		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							315	297	303					3																	69097485		1938	4135	6073	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097485C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.371G>A	3.37:g.69097485C>T	ENSP00000381567:p.Arg124Gln					TMF1_uc003dnn.3_Missense_Mutation_p.R124Q	p.R124Q	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	1	618	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	124					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.371G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729785	0.69074	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000438636	T;T	0.77489	-1.1;-1.1	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.71581	2.175	0.46798	D	0.999204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.88186	0.2874	10	0.62326	D	0.03	-12.7671	19.8344	0.96650	0.0:1.0:0.0:0.0	.	124;124	P82094-2;P82094	.;TMF1_HUMAN	Q	124	ENSP00000381567:R124Q;ENSP00000438706:R124Q	ENSP00000381567:R124Q	R	-	2	0	TMF1	69180175	0.991000	0.36638	0.996000	0.52242	0.243000	0.25628	3.798000	0.55522	2.692000	0.91855	0.655000	0.94253	CGA		0.418	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		T	69097485	C	T	69097485	3	4	280	1	0	0	0	0	1	0	0	0	16225	884	31	2	2974	2	TMF1	3	69097485	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	35643203	69097485	128924945	7	20019											
IQCG	84223	broad.mit.edu	37	chr3	197616555	197616555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccaccaatttctctccGtatcatagtgcctcgccacc	10	10	5	16	2	2	0	1	0	1	0	5	1	3	0	6	0	2	1	6	0	4	3	rs372501872		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:197616555G>A	ENST00000265239.6	-	12	1652	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	IQCG_ENST00000455191.1_Missense_Mutation_p.R410W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	410	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ATTTCTCTCCGTATCATAGTG	0.463													G|||	1	0.000199681	0	0	5008	,	,		23065	0		0	False		,,,				2504	0.001					uc003fyo.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1228-1230)Cgg>Tgg		Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	202	183	190		1228,1228	0.1	0	3		190	0,8600		0,0,4300	no	missense,missense	IQCG	NM_001134435.1,NM_032263.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	410/444,410/444	197616555	1,13005	2203	4300	6503	SO:0001583	missense	84223							g.chr3:197616555G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1228C>T	3.37:g.197616555G>A	ENSP00000265239:p.Arg410Trp					IQCG_uc003fyn.3_Missense_Mutation_p.R312W|IQCG_uc003fyp.3_Missense_Mutation_p.R410W	p.R410W	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1374	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		410			IQ.		Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.1228C>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811632	0.70797	2.27E-4	0.0	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.65916	-0.18;-0.18	5.21	0.0886	0.14455	.	0.064441	0.64402	D	0.000008	T	0.79233	0.4411	M	0.88310	2.945	0.48040	D	0.999572	D	0.89917	1.0	D	0.97110	1.0	T	0.80301	-0.1440	10	0.87932	D	0	-18.4527	11.7689	0.51947	0.0:0.111:0.4295:0.4594	.	410	Q9H095	IQCG_HUMAN	W	410	ENSP00000265239:R410W;ENSP00000407736:R410W	ENSP00000265239:R410W	R	-	1	2	IQCG	199100952	0.946000	0.32159	0.020000	0.16555	0.389000	0.30415	1.640000	0.37186	-0.079000	0.12707	-0.175000	0.13238	CGG		0.463	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		A	197616555	G	A	197616555	3	1	280	1	0	0	0	0	1	0	0	0	7810	1144	40	1	107	1	IQCG	3	197616555	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	128519070	197616555	405875	8	20020											
NPFFR2	10886	broad.mit.edu	37	chr4	72897628	72897628	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagcgggatatgaatagcTtcttcggaaccccagcggcc	9	9	11	12	3	1	1	0	1	1	0	2	3	1	3	3	3	4	1	3	3	5	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr4:72897628T>A	ENST00000308744.6	+	1	108	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	NPFFR2_ENST00000344413.5_Missense_Mutation_p.F4I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	4					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATGAATAGCTTCTTCGGAAC	0.562																																						uc003hgg.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(10-12)Ttc>Atc		Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.							32	36	34					4																	72897628		2177	4258	6435	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897628T>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.10T>A	4.37:g.72897628T>A	ENSP00000307822:p.Phe4Ile					NPFFR2_uc010iig.2_5'UTR	p.F4I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		0	108	+			4					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.10T>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180489	0.38511	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.74842	-0.88	3.19	3.19	0.36642	.	0.296687	0.19060	U	0.123787	T	0.51584	0.1683	N	0.08118	0	0.24154	N	0.99568	B	0.26002	0.139	B	0.19666	0.026	T	0.50676	-0.8800	10	0.87932	D	0	.	8.1474	0.31119	0.0:0.0:0.0:1.0	.	4	Q9Y5X5	NPFF2_HUMAN	I	4	ENSP00000307822:F4I	ENSP00000307822:F4I	F	+	1	0	NPFFR2	73116492	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.255000	0.18333	1.732000	0.51606	0.397000	0.26171	TTC		0.562	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		A	72897628	T	A	72897628	3	1	280	1	0	0	0	0	1	0	0	0	10578	1609	56	5	12	5	NPFFR2	4	72897628	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		72897628	118256648	9	20021											
ROPN1L	83853	broad.mit.edu	37	chr5	10461398	10461398	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttttcctacgtttaccgcTacttggccagattagactca	8	14	7	12	3	1	2	1	0	0	2	2	2	2	2	3	1	3	3	3	1	4	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:10461398T>G	ENST00000503804.1	+	5	1041	c.520T>G	c.(520-522)Tac>Gac	p.Y174D	ROPN1L_ENST00000274134.4_Missense_Mutation_p.Y174D|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	174					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGTTTACCGCTACTTGGCCAG	0.527																																						uc021xwo.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						c.(520-522)Tac>Gac		Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.							134	126	129					5																	10461398		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461398T>G	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"radial spoke head 11 homolog (Chlamydomonas)"	611756	"ropporin 1-like"			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.520T>G	5.37:g.10461398T>G	ENSP00000421405:p.Tyr174Asp					ROPN1L_uc003jex.4_Missense_Mutation_p.Y174D	p.Y174D	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN			4	703	+			174					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.520T>G	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458864	0.43634	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.23552	1.9;1.9	4.9	4.9	0.64082	.	0.063751	0.64402	D	0.000004	T	0.54806	0.1881	M	0.87269	2.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.62868	-0.6763	10	0.87932	D	0	-13.4836	12.0685	0.53603	0.0:0.0:0.0:1.0	.	174	Q96C74	ROP1L_HUMAN	D	174	ENSP00000421405:Y174D;ENSP00000274134:Y174D	ENSP00000274134:Y174D	Y	+	1	0	ROPN1L	10514398	1.000000	0.71417	0.225000	0.23894	0.034000	0.12701	5.227000	0.65305	1.835000	0.53391	0.460000	0.39030	TAC		0.527	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		G	10461398	T	G	10461398	3	3	280	1	0	0	0	0	1	0	0	0	13525	1522	53	5	534	5	ROPN1L	5	10461398	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		10461398	170453862	10	20022											
VCAN	1462	broad.mit.edu	37	chr5	82816676	82816676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtttcactgaagatggaGcagatgaatttactcttatt	13	14	8	6	0	2	4	1	2	1	2	2	5	2	5	0	1	2	2	0	1	5	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:82816676G>A	ENST00000265077.3	+	7	3116	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	VCAN_ENST00000342785.4_Missense_Mutation_p.A851T|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.A803T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	851	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAAGATGGAGCAGATGAATT	0.408																																						uc003kii.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2551-2553)Gca>Aca		Homo sapiens versican (VCAN), transcript variant 1, mRNA.							105	105	105					5																	82816676		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816676G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2551G>A	5.37:g.82816676G>A	ENSP00000265077:p.Ala851Thr					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A851T|VCAN_uc003kik.3_Intron	p.A851T	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	2907	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	851			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2551G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033521	0.02029	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.18502	2.21;2.21;2.21	5.5	-1.85	0.07784	.	1.098160	0.06897	N	0.805263	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B;B	0.22851	0.066;0.076	B;B	0.26310	0.068;0.031	T	0.43343	-0.9397	10	0.15066	T	0.55	.	10.4074	0.44272	0.5604:0.0:0.4396:0.0	.	851;851	P13611-3;P13611	.;CSPG2_HUMAN	T	851;851;803	ENSP00000265077:A851T;ENSP00000342768:A851T;ENSP00000425959:A803T	ENSP00000265077:A851T	A	+	1	0	VCAN	82852432	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.088000	0.14979	-0.290000	0.09025	0.650000	0.86243	GCA		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82816676	G	A	82816676	3	1	280	1	0	0	0	0	1	0	0	0	17135	971	34	3	2573	3	VCAN	5	82816676	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	72355278	82816676	98098584	11	20023											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555036	178555036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagtcctcttccaggacGttgttgtcgtcgacattcag	8	12	10	11	3	2	1	1	0	1	1	6	3	4	2	2	1	0	2	2	1	0	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:178555036G>A	ENST00000251582.7	-	17	2642	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	847	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N847N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587																																						uc003mjw.3																			1	Substitution - coding silent(1)	p.N847N(2)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2539-2541)aaC>aaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							203	164	177					5																	178555036		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555036G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2541C>T	5.37:g.178555036G>A							p.N847N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2643	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	847			Spacer.			Silent	SNP	ENST00000251582.7	37	c.2541C>T	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178555036	G	A	178555036	2	1	280	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178555036	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	95738360	178555036	2360224	12	20024											
OR2B6	26212	broad.mit.edu	37	chr6	27925491	27925491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttttagtaactcagtgtGgttgtctaccctgactctcc	6	16	9	10	0	3	1	1	1	2	0	4	1	3	1	2	2	2	3	2	2	3	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:27925491G>T	ENST00000244623.1	+	1	473	c.473G>T	c.(472-474)tGg>tTg	p.W158L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCAGTGTGGTTGTCTACC	0.493																																						uc011dkx.2																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(472-474)tGg>tTg		Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.							107	111	110					6																	27925491		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925491G>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.473G>T	6.37:g.27925491G>T	ENSP00000244623:p.Trp158Leu						p.W158L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			0	473	+			158					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.473G>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	0.097	-1.157835	0.01686	.	.	ENSG00000124657	ENST00000244623	T	0.32753	1.44	3.55	-1.4	0.08968	GPCR, rhodopsin-like superfamily (1);	1.079970	0.07470	N	0.902145	T	0.01320	0.0043	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43766	-0.9371	10	0.10902	T	0.67	.	7.4246	0.27092	0.0:0.1492:0.2466:0.6041	.	158	P58173	OR2B6_HUMAN	L	158	ENSP00000244623:W158L	ENSP00000244623:W158L	W	+	2	0	OR2B6	28033470	0.000000	0.05858	0.003000	0.11579	0.924000	0.55760	-2.980000	0.00663	-0.089000	0.12484	0.467000	0.42956	TGG		0.493	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			T	27925491	G	T	27925491	3	4	280	1	0	0	0	0	1	0	0	0	10991	1357	47	5	475	5	OR2B6	6	27925491	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		27925491	143189576	13	20025											
APOBEC2	10930	broad.mit.edu	37	chr6	41029317	41029317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgtgtcctccagccccTgtgcagcgtgtgctgaccgc	4	10	13	14	2	0	1	0	1	0	0	2	1	2	1	5	1	4	3	5	1	1	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:41029317T>C	ENST00000244669.2	+	2	426	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	128					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCAGCCCCTGTGCAGCGTG	0.572																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(382-384)Tgt>Cgt		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.							178	162	167					6																	41029317		2203	4300	6503	SO:0001583	missense	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029317T>C	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.382T>C	6.37:g.41029317T>C	ENSP00000244669:p.Cys128Arg					UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	p.C128R	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN			1	529	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		128					B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	c.382T>C	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227767	0.79576	.	.	ENSG00000124701	ENST00000244669	D	0.98649	-5.05	5.69	5.69	0.88448	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99308	1.0903	10	0.87932	D	0	.	15.1232	0.72460	0.0:0.0:0.0:1.0	.	128	Q9Y235	ABEC2_HUMAN	R	128	ENSP00000244669:C128R	ENSP00000244669:C128R	C	+	1	0	APOBEC2	41137295	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.698000	0.84413	2.162000	0.67917	0.533000	0.62120	TGT		0.572	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		C	41029317	T	C	41029317	3	2	280	1	0	0	0	0	1	0	0	0	788	1580	55	4	388	4	APOBEC2	6	41029317	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08	13103826	41029317	130085750	14	20026											
PNLDC1	154197	broad.mit.edu	37	chr6	160240043	160240043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctcagcgtcaaaaggtgGcctggggtcagcgagcagca	10	6	14	11	2	3	0	3	0	0	0	4	1	4	0	2	4	4	2	2	4	2	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:160240043G>A	ENST00000610273.1	+	17	1461	c.1290G>A	c.(1288-1290)tgG>tgA	p.W430*	PNLDC1_ENST00000392167.3_Nonsense_Mutation_p.W441*	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	430						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAAAAGGTGGCCTGGGGTCA	0.463																																						uc003qsy.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1321-1323)tgG>tgA		Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.							103	104	104					6																	160240043		2203	4300	6503	SO:0001587	stop_gained	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240043G>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1290G>A	6.37:g.160240043G>A	ENSP00000476448:p.Trp430*					PNLDC1_uc003qsx.1_Nonsense_Mutation_p.W430*	p.W441*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	16	1362	+		Breast(66;0.00519)|Ovarian(120;0.123)	430					Q5TAP7|Q8N7X5	Nonsense_Mutation	SNP	ENST00000610273.1	37	c.1323G>A	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266414	0.80358	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	4.57	0.56435	.	0.114392	0.40554	N	0.001063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.7163	0.77670	0.0:0.0:1.0:0.0	.	.	.	.	X	430;441	.	ENSP00000275275:W430X	W	+	3	0	PNLDC1	160160033	1.000000	0.71417	0.979000	0.43373	0.136000	0.21042	1.861000	0.39438	2.360000	0.80028	0.462000	0.41574	TGG		0.463	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		A	160240043	G	A	160240043	4	1	280	1	0	0	0	0	0	1	0	0	12148	1212	42	3	1352	3	PNLDC1	6	160240043	Nonsense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	119210726	160240043	10875024	15	20027											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066638	18066638	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgatgcgagaaatggcTgggccagaaaagattccatg	12	9	14	6	1	0	4	0	1	0	3	1	5	1	4	2	2	1	2	2	2	3	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:18066638T>A	ENST00000506618.2	-	1	848	c.768A>T	c.(766-768)ccA>ccT	p.P256P		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	256					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAGAAATGGCTGGGCCAGAAA	0.448																																						uc003stz.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(766-768)ccA>ccT		Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.							113	113	113					7																	18066638		2201	4300	6501	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066638T>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.768A>T	7.37:g.18066638T>A							p.P256P	NM_175886	NP_787082	P21108	PRPS3_HUMAN			0	849	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		256					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.768A>T	CCDS47552.1																																																																																				0.448	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		A	18066638	T	A	18066638	2	1	280	1	0	0	0	0	0	0	0	1	12579	1567	55	5		5	PRPS1L1	7	18066638	Silent	SNP	T	TCGA-76-6664-01A-11D-1845-08		18066638	141072025	16	20028											
SAMD9	54809	broad.mit.edu	37	chr7	92730646	92730646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaatatcaggctcttaaaCaatttcaatgtcataagcaa	18	11	5	7	0	4	1	3	0	1	1	4	1	4	1	0	1	2	2	0	1	9	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:92730646C>G	ENST00000379958.2	-	3	5034	c.4765G>C	c.(4765-4767)Gtt>Ctt	p.V1589L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1589						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTCTTAAACAATTTCAATG	0.378																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4765-4767)Gtt>Ctt		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							113	121	118					7																	92730646		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92730646C>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4765G>C	7.37:g.92730646C>G	ENSP00000369292:p.Val1589Leu					SAMD9_uc003umg.3_Missense_Mutation_p.V1589L|SAMD9_uc022ahg.1_Missense_Mutation_p.V1589L	p.V1589L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	5035	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1589					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4765G>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	2.905	-0.226606	0.06022	.	.	ENSG00000205413	ENST00000379958	T	0.24350	1.86	4.61	-2.35	0.06684	.	0.618137	0.14115	N	0.340428	T	0.07458	0.0188	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20306	-1.0279	10	0.56958	D	0.05	.	3.2796	0.06911	0.1198:0.15:0.1203:0.6098	.	1589	Q5K651	SAMD9_HUMAN	L	1589	ENSP00000369292:V1589L	ENSP00000369292:V1589L	V	-	1	0	SAMD9	92568582	0.069000	0.21087	0.027000	0.17364	0.012000	0.07955	0.127000	0.15790	-0.398000	0.07679	-0.192000	0.12808	GTT		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		G	92730646	C	G	92730646	3	3	280	1	0	0	0	0	1	0	0	0	13826	478	17	5	8	5	SAMD9	7	92730646	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	74664008	92730646	66408017	17	20029											
EGR3	1960	broad.mit.edu	37	chr8	22550311	22550311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcccttacctgtagcCatctgattgtaatggactac	8	11	8	14	2	1	1	0	1	1	0	1	2	1	2	5	1	3	2	5	1	4	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:22550311C>T	ENST00000317216.2	-	1	504	c.147G>A	c.(145-147)atG>atA	p.M49I	EGR3_ENST00000519492.1_Missense_Mutation_p.M49I|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_5'Flank|EGR3_ENST00000524088.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	49					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TACCTGTAGCCATCTGATTGT	0.602																																						uc003xcm.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(145-147)atG>atA		Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.							69	67	67					8																	22550311		2203	4300	6503	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22550311C>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.147G>A	8.37:g.22550311C>T	ENSP00000318057:p.Met49Ile					EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.2_5'Flank	p.M49I	NM_004430	NP_001186810	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	0	505	-		Prostate(55;0.0421)|Breast(100;0.102)	49					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.147G>A	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597873	0.46318	.	.	ENSG00000179388	ENST00000317216;ENST00000519492	T	0.07327	3.2	4.65	3.77	0.43336	.	0.244821	0.38381	N	0.001707	T	0.06050	0.0157	N	0.19112	0.55	0.52099	D	0.999948	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	10	0.41790	T	0.15	-1.5315	10.7773	0.46356	0.0:0.9063:0.0:0.0937	.	49	Q06889	EGR3_HUMAN	I	49	ENSP00000318057:M49I	ENSP00000318057:M49I	M	-	3	0	EGR3	22606256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.710000	0.74670	1.315000	0.45114	0.555000	0.69702	ATG		0.602	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		T	22550311	C	T	22550311	3	4	280	1	0	0	0	0	1	0	0	0	4973	594	21	3	1024	3	EGR3	8	22550311	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		22550311	123813711	18	20030											
CNGB3	54714	broad.mit.edu	37	chr8	87666239	87666239	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaaattgtttgtcacctaCctgaaattttgtagaagtcc	11	16	7	7	0	1	3	1	2	0	1	2	3	2	3	3	0	1	2	3	0	5	7			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:87666239C>T	ENST00000320005.5	-	7	951		c.e7+1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGTCACCTACCTGAAATTTT	0.303																																						uc003ydx.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.e7+1		Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.							142	141	141					8																	87666239		2202	4300	6502	SO:0001630	splice_region_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87666239C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.903+1G>A	8.37:g.87666239C>T						CNGB3_uc010maj.3_Splice_Site_p.Q163_splice	p.Q301_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			7	951	-			301					C9JA51|Q9NRE9	Splice_Site	SNP	ENST00000320005.5	37	c.903_splice	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835071	0.71373	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.89	0.88869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNGB3	87735355	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.172000	0.58243	2.516000	0.84829	0.555000	0.69702	.		0.303	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Intron	T	87666239	C	T	87666239	5	4	280	1	0	0	0	0	0	0	1	0	3601	521	18	3	1573	3	CNGB3	8	87666239	Splice_Site	SNP	C	TCGA-76-6664-01A-11D-1845-08	65115928	87666239	58697783	19	20031											
RGS22	26166	broad.mit.edu	37	chr8	101065160	101065160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatttcagttcagcactaGcatattttgttgaggctgaa	12	14	9	6	0	2	3	2	2	0	1	2	3	2	3	0	1	2	5	0	1	4	7			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:101065160G>A	ENST00000360863.6	-	10	1753	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	RGS22_ENST00000523287.1_Missense_Mutation_p.A339V|RGS22_ENST00000523437.1_Missense_Mutation_p.A508V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	520					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCAGCACTAGCATATTTTGT	0.393																																						uc003yjb.1																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1558-1560)gCt>gTt		Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.							199	193	194					8																	101065160		1875	4112	5987	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101065160G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1559C>T	8.37:g.101065160G>A	ENSP00000354109:p.Ala520Val					RGS22_uc003yja.1_Missense_Mutation_p.A339V|RGS22_uc003yjc.1_Missense_Mutation_p.A508V|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.A424V	p.A520V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		9	1754	-			520					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1559C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920464	0.00498	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32988	1.43;1.43;1.43	5.13	1.17	0.20885	.	0.525492	0.19186	N	0.120552	T	0.23210	0.0561	L	0.50919	1.6	0.09310	N	1	B;B;B	0.22541	0.071;0.071;0.005	B;B;B	0.22386	0.039;0.039;0.011	T	0.30060	-0.9991	10	0.13853	T	0.58	.	8.7802	0.34787	0.4833:0.0:0.5167:0.0	.	508;520;339	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	V	520;508;339;508	ENSP00000354109:A520V;ENSP00000429382:A339V;ENSP00000428212:A508V	ENSP00000354109:A520V	A	-	2	0	RGS22	101134336	0.927000	0.31430	0.002000	0.10522	0.008000	0.06430	1.776000	0.38594	-0.010000	0.14271	-0.157000	0.13467	GCT		0.393	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		A	101065160	G	A	101065160	3	1	280	1	0	0	0	0	1	0	0	0	13305	971	34	3	2307	3	RGS22	8	101065160	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	13398921	101065160	45298862	20	20032											
DMRT3	58524	broad.mit.edu	37	chr9	990870	990870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccgtccttcctgcccgCgccacggaagaccctcggat	5	7	10	19	6	0	1	0	0	0	1	4	3	2	3	6	2	1	0	6	2	1	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:990870C>T	ENST00000190165.2	+	2	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTCCTGCCCGCGCCACGGAAG	0.552																																						uc003zgw.1																			0		p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1282-1284)cgC>cgT		Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.							82	71	75					9																	990870		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990870C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1284C>T	9.37:g.990870C>T							p.R428R	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	1322	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	428					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.1284C>T	CCDS6443.1																																																																																				0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		T	990870	C	T	990870	2	4	280	1	0	0	0	0	0	0	0	1	4587	755	27	1		1	DMRT3	9	990870	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		990870	140222561	21	20033											
GAPVD1	26130	broad.mit.edu	37	chr9	128092422	128092422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcagggtcagtgcttcttGacccctgcactggttctacc	5	13	10	13	0	4	1	2	1	2	0	4	1	4	1	3	2	3	4	3	2	1	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:128092422G>A	ENST00000495955.1	+	13	2388	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	GAPVD1_ENST00000312123.9_Missense_Mutation_p.D679N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D700N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D700N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D700N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D700N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D700N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D679N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	700					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTGCTTCTTGACCCCTGCAC	0.478																																						uc004bpp.3																			0		p.L699V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2098-2100)Gac>Aac		Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.							244	213	224					9																	128092422		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128092422G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2098G>A	9.37:g.128092422G>A	ENSP00000419063:p.Asp700Asn					GAPVD1_uc011lzs.1_Missense_Mutation_p.D700N|GAPVD1_uc004bpq.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwx.3_Missense_Mutation_p.D700N|GAPVD1_uc004bpr.3_Missense_Mutation_p.D679N|GAPVD1_uc004bps.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D559N	p.D700N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			10	2258	+			700					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2098G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.302406	0.95601	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.06	5.06	0.68205	.	0.045745	0.85682	D	0.000000	T	0.18257	0.0438	N	0.03608	-0.345	0.80722	D	1	D;D;D;D;D;D	0.71674	0.996;0.993;0.996;0.996;0.996;0.998	D;D;D;D;D;D	0.78314	0.987;0.971;0.981;0.981;0.981;0.991	T	0.46707	-0.9172	10	0.62326	D	0.03	.	17.7858	0.88538	0.0:0.0:1.0:0.0	.	700;700;700;679;700;700	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.;GAPD1_HUMAN;.;.;.;.	N	700;700;700;700;679;700;700;700;679	ENSP00000419767:D700N;ENSP00000377665:D700N;ENSP00000377664:D700N;ENSP00000265956:D700N;ENSP00000377645:D679N;ENSP00000419063:D700N;ENSP00000418747:D700N;ENSP00000297933:D700N;ENSP00000309582:D679N	ENSP00000265956:D700N	D	+	1	0	GAPVD1	127132243	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.411000	0.97342	2.516000	0.84829	0.650000	0.86243	GAC		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128092422	G	A	128092422	3	1	280	1	0	0	0	0	1	0	0	0	6239	1290	45	3	2136	3	GAPVD1	9	128092422	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	127101552	128092422	13121009	22	20034											
PTEN	5728	broad.mit.edu	37	chr10	89692768	89692768	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttatctttttaccacAgttgcacaatatccttttga	10	17	6	8	0	1	2	0	2	1	0	2	2	2	2	2	1	2	3	2	1	4	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr10:89692768A>C	ENST00000371953.3	+	5	1610		c.e5-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTACCACAGTTGCACAAT	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e5-2		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							98	90	93					10																	89692768		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692768A>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.254-1A>C	10.37:g.89692768A>C		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.V85_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1286	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	85			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.254_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851020	0.71719	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8406	0.70220	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89682748	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	.		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	C	89692768	A	C	89692768	5	2	280	1	0	0	0	0	0	0	1	0	12738	202	7	5	270	5	PTEN	10	89692768	Splice_Site	SNP	A	TCGA-76-6664-01A-11D-1845-08		89692768	45841979	23	20035											
FAM181B	220382	broad.mit.edu	37	chr11	82443599	82443599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgctgtaatcgtaggaCacctgatggggcggcggcgg	6	6	17	12	6	0	1	0	1	0	0	1	2	0	2	2	6	0	3	2	6	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:82443599C>T	ENST00000329203.3	-	1	1307	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	391										large_intestine(1)|lung(2)|prostate(1)	4						AATCGTAGGACACCTGATGGG	0.706																																						uc001ozp.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1171-1173)gtG>gtA		Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.							7	9	8					11																	82443599		2055	4152	6207	SO:0001819	synonymous_variant	220382							g.chr11:82443599C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1173G>A	11.37:g.82443599C>T							p.V391V	NM_175885	NP_787081	A6NEQ2	F181B_HUMAN			0	1308	-			391					B2RWP1	Silent	SNP	ENST00000329203.3	37	c.1173G>A	CCDS31648.1																																																																																				0.706	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		T	82443599	C	T	82443599	2	4	280	1	0	0	0	0	0	0	0	1	5509	465	17	3		3	FAM181B	11	82443599	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		82443599	52562917	24	20036											
NOX4	50507	broad.mit.edu	37	chr11	89073229	89073229	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagaaccaaccctaatgttAccttgttatgcaacatacag	14	11	5	11	0	0	1	0	0	0	1	0	1	0	1	3	0	6	3	3	0	8	6			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:89073229A>T	ENST00000263317.4	-	15	1685		c.e15+1		NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000535633.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCTAATGTTACCTTGTTATG	0.318																																						uc001pct.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e15+1		Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.							91	92	91					11																	89073229		2201	4298	6499	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073229A>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1446+1T>A	11.37:g.89073229A>T						NOX4_uc009yvr.3_Splice_Site_p.K457_splice|NOX4_uc001pcu.3_Splice_Site_p.K408_splice|NOX4_uc001pcw.3_Splice_Site_p.K175_splice|NOX4_uc001pcx.3_Splice_Site_p.K135_splice|NOX4_uc001pcv.3_Splice_Site_p.K442_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Splice_Site_p.K246_splice|NOX4_uc010rtv.2_Splice_Site_p.K418_splice|NOX4_uc009yvq.3_Splice_Site_p.K458_splice	p.K482_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN			15	1685	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	482			Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37	c.1446_splice	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324727	0.60634	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4216	0.67187	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88712877	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	8.609000	0.90898	1.957000	0.56846	0.377000	0.23210	.		0.318	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	T	89073229	A	T	89073229	5	4	280	1	0	0	0	0	0	0	1	0	10558	405	14	5	304	5	NOX4	11	89073229	Splice_Site	SNP	A	TCGA-76-6664-01A-11D-1845-08	6629630	89073229	45933287	25	20037											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762058	101762058	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaattttcattgaaacagaTttaatcttgacaggtgagtt	13	16	7	5	0	2	4	1	3	1	1	2	4	2	4	0	1	1	1	0	1	3	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:101762058T>A	ENST00000334289.3	-	9	1714	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	373	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTGAAACAGATTTAATCTTGA	0.303																																						uc001pgl.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(1117-1119)aaA>aaT		Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.							80	85	83					11																	101762058		2203	4299	6502	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762058T>A	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1119A>T	11.37:g.101762058T>A	ENSP00000335255:p.Lys373Asn						p.K373N	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1715	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	373			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.1119A>T	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939139	0.73557	.	.	ENSG00000187151	ENST00000334289	D	0.83837	-1.77	5.04	3.89	0.44902	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.089967	0.85682	N	0.000000	D	0.93625	0.7964	H	0.97516	4.02	0.53688	D	0.999974	D	0.89917	1.0	D	0.85130	0.997	D	0.93836	0.7132	10	0.87932	D	0	.	11.0397	0.47823	0.1394:0.0:0.0:0.8606	.	373	Q86XS5	ANGL5_HUMAN	N	373	ENSP00000335255:K373N	ENSP00000335255:K373N	K	-	3	2	ANGPTL5	101267268	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.894000	0.39768	0.737000	0.32582	0.528000	0.53228	AAA		0.303	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		A	101762058	T	A	101762058	3	1	280	1	0	0	0	0	1	0	0	0	617	1490	52	5	51	5	ANGPTL5	11	101762058	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08	12688829	101762058	33244458	26	20038											
MMP1	4312	broad.mit.edu	37	chr11	102663372	102663372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatctctgtcggcaaattCgtaagcagcttcaagcccat	10	12	7	12	2	3	0	2	0	1	0	6	0	3	0	1	1	3	4	1	1	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:102663372C>T	ENST00000315274.6	-	7	1064	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	333					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TCGGCAAATTCGTAAGCAGCT	0.403																																						uc001phi.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(997-999)Gaa>Aaa		Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.							126	129	128					11																	102663372		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663372C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.997G>A	11.37:g.102663372C>T	ENSP00000322788:p.Glu333Lys					LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E267K	p.E333K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	1140	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	333			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.997G>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.786879	0.90367	.	.	ENSG00000196611	ENST00000315274	T	0.03004	4.08	6.16	6.16	0.99307	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000001	T	0.31199	0.0789	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33292	-0.9874	10	0.87932	D	0	.	19.4236	0.94732	0.0:1.0:0.0:0.0	.	333	P03956	MMP1_HUMAN	K	333	ENSP00000322788:E333K	ENSP00000322788:E333K	E	-	1	0	MMP1	102168582	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	5.116000	0.64661	2.937000	0.99478	0.650000	0.86243	GAA		0.403	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		T	102663372	C	T	102663372	3	4	280	1	0	0	0	0	1	0	0	0	9648	893	31	2	428	2	MMP1	11	102663372	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	901314	102663372	32343144	27	20039											
IPO8	10526	broad.mit.edu	37	chr12	30809654	30809654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacaagatcaatgatccGtagacagatattctctaact	16	10	6	9	1	2	5	1	1	1	4	4	5	3	5	1	0	2	1	1	0	6	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:30809654G>A	ENST00000256079.4	-	17	2250	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	IPO8_ENST00000544829.1_Missense_Mutation_p.R433W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	638					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATGATCCGTAGACAGATA	0.234																																						uc001rjd.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1912-1914)Cgg>Tgg		Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.							26	27	26					12																	30809654		2189	4270	6459	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30809654G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1912C>T	12.37:g.30809654G>A	ENSP00000256079:p.Arg638Trp					IPO8_uc010sjt.2_Missense_Mutation_p.R433W|IPO8_uc001rje.1_Missense_Mutation_p.R127W	p.R638W	NM_006390	NP_006381	O15397	IPO8_HUMAN			16	2260	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		638					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1912C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160389	0.57368	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.67698	-0.28;-0.28	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.127634	0.53938	D	0.000056	T	0.69160	0.3080	N	0.24115	0.695	0.49687	D	0.999818	D;D;D	0.69078	0.997;0.996;0.995	P;P;P	0.58970	0.849;0.761;0.582	T	0.75016	-0.3466	10	0.87932	D	0	-7.7769	17.9605	0.89084	0.0:0.0:1.0:0.0	.	433;114;638	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	W	638;114;433	ENSP00000256079:R638W;ENSP00000444520:R433W	ENSP00000256079:R638W	R	-	1	2	IPO8	30700921	1.000000	0.71417	0.923000	0.36655	0.010000	0.07245	6.080000	0.71299	2.306000	0.77630	0.655000	0.94253	CGG		0.234	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		A	30809654	G	A	30809654	3	1	280	1	0	0	0	0	1	0	0	0	7798	1144	40	1	1237	1	IPO8	12	30809654	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		30809654	103042241	28	20040											
ZBTB39	9880	broad.mit.edu	37	chr12	57396685	57396685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgctcatgaggttaaGggtggaactgtagtgcccac	9	12	13	7	0	1	1	1	1	0	0	1	2	1	2	1	3	3	4	1	3	3	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:57396685G>T	ENST00000300101.2	-	2	2102	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGAGGTTAAGGGTGGAACTG	0.542																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2017-2019)Ctt>Att		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							146	116	126					12																	57396685		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396685G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2017C>A	12.37:g.57396685G>T	ENSP00000300101:p.Leu673Ile					ZBTB39_uc021qzg.1_Missense_Mutation_p.L673I	p.L673I	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	2170	-			673					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.2017C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044825	0.55110	.	.	ENSG00000166860	ENST00000300101	T	0.15603	2.41	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.082660	0.49916	D	0.000123	T	0.22975	0.0555	L	0.41632	1.29	0.50313	D	0.999869	D	0.58620	0.983	P	0.51016	0.656	T	0.01169	-1.1430	10	0.20519	T	0.43	-13.099	16.7608	0.85511	0.0:0.0:1.0:0.0	.	673	O15060	ZBT39_HUMAN	I	673	ENSP00000300101:L673I	ENSP00000300101:L673I	L	-	1	0	ZBTB39	55682952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.553000	0.53713	2.549000	0.85964	0.655000	0.94253	CTT		0.542	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		T	57396685	G	T	57396685	3	4	280	1	0	0	0	0	1	0	0	0	17537	1000	35	5	125	5	ZBTB39	12	57396685	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	26587031	57396685	76455210	29	20041											
STARD13	90627	broad.mit.edu	37	chr13	33685935	33685935	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaaaagtctgtcgcattCcatgatcatgtgcgctagcc	10	11	8	12	2	3	1	2	1	1	0	5	1	4	1	2	0	2	2	2	0	3	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:33685935C>A	ENST00000336934.5	-	10	2703	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	STARD13_ENST00000255486.4_Nonsense_Mutation_p.E855*|STARD13_ENST00000399365.3_Nonsense_Mutation_p.E745*	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	863	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGTCGCATTCCATGATCATG	0.478																																						uc001uuw.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2587-2589)Gaa>Taa		Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.							157	129	139					13																	33685935		2203	4300	6503	SO:0001587	stop_gained	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33685935C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2587G>T	13.37:g.33685935C>A	ENSP00000338785:p.Glu863*					STARD13_uc001uuu.3_Nonsense_Mutation_p.E855*|STARD13_uc001uuv.3_Nonsense_Mutation_p.E745*|STARD13_uc001uux.3_Nonsense_Mutation_p.E828*	p.E863*	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	9	2713	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	863			Rho-GAP.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Nonsense_Mutation	SNP	ENST00000336934.5	37	c.2587G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	41	8.738483	0.98935	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0051	0.97433	0.0:1.0:0.0:0.0	.	.	.	.	X	745;855;863	.	ENSP00000255486:E855X	E	-	1	0	STARD13	32583935	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.961000	0.70356	2.799000	0.96334	0.650000	0.86243	GAA		0.478	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		A	33685935	C	A	33685935	4	1	280	1	0	0	0	0	0	1	0	0	15255	864	30	5	774	5	STARD13	13	33685935	Nonsense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		33685935	81483943	30	20042											
SLC15A1	6564	broad.mit.edu	37	chr13	99337143	99337143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagacgaccagaagcaaCgcggcaaatagaatgtactc	17	4	9	11	3	0	3	0	0	0	3	1	4	0	3	1	1	3	3	1	1	6	2	rs143994270	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:99337143C>T	ENST00000376503.5	-	23	2017	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	654					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCAGAAGCAACGCGGCAAATA	0.418													C|||	5	0.000998403	0.0038	0	5008	,	,		19713	0		0	False		,,,				2504	0					uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1960-1962)gcG>gcA		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	C		2,4404	4.2+/-10.8	0,2,2201	62	56	58		1962	-10.6	0	13	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC15A1	NM_005073.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		654/709	99337143	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99337143C>T	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1962G>A	13.37:g.99337143C>T							p.A654A	NM_005073	NP_005064	P46059	S15A1_HUMAN			22	2039	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		654					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1962G>A	CCDS9489.1																																																																																				0.418	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		T	99337143	C	T	99337143	2	4	280	1	0	0	0	0	0	0	0	1	14398	523	19	1		1	SLC15A1	13	99337143	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	65651208	99337143	15832735	31	20043											
ASB2	51676	broad.mit.edu	37	chr14	94419793	94419793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggtggcccctgcacGttgccaagtaaacggctgtt	8	9	12	12	2	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	3	3	rs113529772		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:94419793G>A	ENST00000315988.4	-	3	883	c.395C>T	c.(394-396)aCg>aTg	p.T132M	ASB2_ENST00000555019.1_Missense_Mutation_p.T180M|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	132					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.T132R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCCTGCACGTTGCCAAGTA	0.587																																						uc001ycd.3																			1	Substitution - Missense(1)	p.T132R(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(538-540)aCg>aTg		Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.							71	65	67					14																	94419793		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94419793G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.395C>T	14.37:g.94419793G>A	ENSP00000320675:p.Thr132Met					ASB2_uc001ycc.2_Missense_Mutation_p.T132M|ASB2_uc001yce.1_Missense_Mutation_p.T78M	p.T180M	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	909	-		all_cancers(154;0.13)	132					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.539C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139727	0.56936	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000555287	T;T;T;T	0.71579	-0.09;-0.09;-0.09;-0.58	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.118220	0.64402	D	0.000007	T	0.79399	0.4439	L	0.39020	1.185	0.47374	D	0.999404	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73380	0.931;0.98;0.931	T	0.80665	-0.1281	10	0.72032	D	0.01	-10.8437	19.6793	0.95956	0.0:0.0:1.0:0.0	.	148;180;132	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	M	180;148;132;78;78;98	ENSP00000451575:T180M;ENSP00000320675:T132M;ENSP00000450940:T78M;ENSP00000451654:T98M	ENSP00000320675:T132M	T	-	2	0	ASB2	93489546	1.000000	0.71417	0.145000	0.22337	0.100000	0.18952	6.384000	0.73177	2.713000	0.92767	0.655000	0.94253	ACG		0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			A	94419793	G	A	94419793	3	1	280	1	0	0	0	0	1	0	0	0	1023	1145	40	1	1392	1	ASB2	14	94419793	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		94419793	12929747	32	20044											
JAG2	3714	broad.mit.edu	37	chr14	105622189	105622189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacttgttgcaagtggCgctgtagtagttctcgtcgc	7	12	13	9	3	1	1	0	0	1	1	3	1	1	1	0	1	2	7	0	1	4	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:105622189C>T	ENST00000331782.3	-	4	1016	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	JAG2_ENST00000347004.2_Missense_Mutation_p.A205T|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	205	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGCAAGTGGCGCTGTAGTAG	0.627																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(613-615)Gcc>Acc		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.							84	58	67					14																	105622189		2198	4300	6498	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622189C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.613G>A	14.37:g.105622189C>T	ENSP00000328169:p.Ala205Thr					JAG2_uc001yqh.3_Missense_Mutation_p.A205T	p.A205T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	1017	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	205			DSL.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.613G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221712	0.39300	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;D	0.95885	-0.21;-3.84	4.18	0.614	0.17603	Delta/Serrate/lag-2 (DSL) protein (3);	0.674289	0.14518	U	0.314668	D	0.86368	0.5916	N	0.17800	0.525	0.09310	N	0.999998	B;B	0.12630	0.005;0.006	B;B	0.14023	0.003;0.01	T	0.72168	-0.4372	10	0.13108	T	0.6	.	1.6306	0.02732	0.16:0.4427:0.1576:0.2397	.	205;205	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	205	ENSP00000328169:A205T;ENSP00000328566:A205T	ENSP00000328169:A205T	A	-	1	0	JAG2	104693234	0.000000	0.05858	0.994000	0.49952	0.879000	0.50718	-2.482000	0.00981	0.220000	0.20860	-0.244000	0.11960	GCC		0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105622189	C	T	105622189	3	4	280	1	0	0	0	0	1	0	0	0	7935	768	27	1	3195	1	JAG2	14	105622189	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	11202396	105622189	1727351	33	20045											
AQR	9716	broad.mit.edu	37	chr15	35193048	35193048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtattcatcaggttccgaAtagtctccagcacagcctgt	10	11	8	12	1	3	0	2	0	1	0	5	1	4	0	3	1	2	3	3	1	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:35193048A>G	ENST00000156471.5	-	20	2243	c.2018T>C	c.(2017-2019)aTt>aCt	p.I673T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	673					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGGTTCCGAATAGTCTCCAG	0.448																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2017-2019)aTt>aCt		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							98	90	93					15																	35193048		1993	4175	6168	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35193048A>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2018T>C	15.37:g.35193048A>G	ENSP00000156471:p.Ile673Thr						p.I673T	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	19	2199	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	673					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2018T>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178036	0.78564	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.96522	-4.04	5.25	5.25	0.73442	.	0.063541	0.85682	D	0.000000	D	0.98488	0.9496	M	0.92459	3.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.62326	D	0.03	-27.1136	15.619	0.76790	1.0:0.0:0.0:0.0	.	673	O60306	AQR_HUMAN	T	673	ENSP00000156471:I673T	ENSP00000156471:I673T	I	-	2	0	AQR	32980340	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.709000	0.91379	2.333000	0.79357	0.482000	0.46254	ATT		0.448	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35193048	A	G	35193048	3	3	280	1	0	0	0	0	1	0	0	0	835	101	4	4	2503	4	AQR	15	35193048	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08		35193048	67338344	34	20046											
THBS1	7057	broad.mit.edu	37	chr15	39879564	39879564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagcgactctgcggaCgatggctggtctccatggtc	6	8	14	13	3	2	0	0	0	2	0	4	3	2	1	2	4	3	2	2	4	0	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:39879564C>T	ENST00000260356.5	+	8	1302	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	379	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ACTCTGCGGACGATGGCTGGT	0.567																																						uc001zkh.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1135-1137)gaC>gaT		Homo sapiens thrombospondin 1 (THBS1), mRNA.	Becaplermin(DB00102)						49	44	46					15																	39879564		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39879564C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1137C>T	15.37:g.39879564C>T						THBS1_uc010bbi.3_5'Flank	p.D379D	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	7	1316	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	379			TSP type-1 1.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.1137C>T	CCDS32194.1																																																																																				0.567	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39879564	C	T	39879564	2	4	280	1	0	0	0	0	0	0	0	1	15850	535	19	1		1	THBS1	15	39879564	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	4686516	39879564	62651828	35	20047											
SPTBN5	51332	broad.mit.edu	37	chr15	42164092	42164092	+	Frame_Shift_Del	DEL	A	A	-																															tcaggaactcatgcagcctcAgggtcccctccagttcccgg																										TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:42164092delA	ENST00000320955.6	-	28	5416	c.5189delT	c.(5188-5190)ctgfs	p.L1730fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1730					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGCAGCCTCAGGGTCCCCTC	0.677																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5083-5085)ctgfs		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							22	26	25					15																	42164092		1926	4124	6050	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42164092delA	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5189delT	15.37:g.42164092delA	ENSP00000317790:p.Leu1730fs						p.L1695fs	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	27	5417	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1730						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.5084delT																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		-	42164092	A	-	42164092	7	5	280	1	0	1	0	1	0	0	0	0	15121	188	7	0	5999	0	SPTBN5	15	42164092	Frame_Shift_Del	DEL	A	TCGA-76-6664-01A-11D-1845-08	2284528	42164092	60367300	36	20048											
ITFG3	83986	broad.mit.edu	37	chr16	315018	315018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggtaccagagtgaggcGtagaggcacgccagccagag	10	4	16	11	3	0	4	0	1	0	3	0	4	0	4	3	3	3	3	3	3	2	2	rs200499463		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:315018G>A	ENST00000399932.3	+	13	2107	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301678.3_Silent_p.A552A|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301679.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	552						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGTGAGGCGTAGAGGCACG	0.647													G|||	1	0.000199681	0	0	5008	,	,		16935	0.001		0	False		,,,				2504	0					uc002cgf.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1654-1656)gcG>gcA		Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.		G		3,4313		0,3,2155	33	40	38		1656	-9.5	0	16		38	0,8528		0,0,4264	no	coding-synonymous	ITFG3	NM_032039.2		0,3,6419	AA,AG,GG		0.0,0.0695,0.0234		552/553	315018	3,12841	2158	4264	6422	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:315018G>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1656G>A	16.37:g.315018G>A						LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.A552A	p.A552A	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			12	1851	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	552					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.1656G>A	CCDS10402.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.997	0.185127	0.09495	6.95E-4	0.0	ENSG00000167930	ENST00000424016	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.14643	-1.0465	4	.	.	.	0.0049	5.8865	0.18884	0.3008:0.4409:0.1895:0.0687	.	.	.	.	H	192	.	.	R	+	2	0	ITFG3	255019	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.354000	0.00247	-2.559000	0.00474	-1.036000	0.02392	CGT		0.647	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		A	315018	G	A	315018	2	1	280	1	0	0	0	0	0	0	0	1	7871	1132	40	1		1	ITFG3	16	315018	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08		315018	90039735	37	20049											
PTX4	390667	broad.mit.edu	37	chr16	1537647	1537647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgaggccctccaggcGtgccagtgagtcctgcaggg	6	6	17	12	2	0	1	0	1	0	0	2	3	2	2	4	4	2	1	4	4	0	0	rs201361995	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:1537647G>A	ENST00000447419.2	-	2	491	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	PTX4_ENST00000293922.1_Missense_Mutation_p.R151C|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	156						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCTCCAGGCGTGCCAGTGAG	0.741													g|||	2	0.000399361	0	0.0014	5008	,	,		14738	0		0.001	False		,,,				2504	0					uc010uvf.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(451-453)Cgc>Tgc		Homo sapiens pentraxin 4, long (PTX4), mRNA.		A	CYS/ARG	0,4380		0,0,2190	19	24	23		451	-5.2	0	16		23	2,8544		0,2,4271	yes	missense	PTX4	NM_001013658.1	180	0,2,6461	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging	151/474	1537647	2,12924	2190	4273	6463	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537647G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.466C>T	16.37:g.1537647G>A	ENSP00000445277:p.Arg156Cys						p.R151C	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			1	451	-			156						Missense_Mutation	SNP	ENST00000447419.2	37	c.451C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	16.15	3.040294	0.55003	0.0	2.34E-4	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05382	3.6;3.45	5.67	-5.21	0.02815	.	1.894640	0.02252	N	0.066745	T	0.07773	0.0195	L	0.48642	1.525	0.09310	N	1	D	0.60160	0.987	P	0.46049	0.502	T	0.42531	-0.9446	10	0.46703	T	0.11	.	5.3694	0.16131	0.0687:0.4386:0.214:0.2787	.	151	Q96A99-2	.	C	156;151	ENSP00000445277:R156C;ENSP00000293922:R151C	ENSP00000293922:R151C	R	-	1	0	PTX4	1477648	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.231000	0.09069	-0.498000	0.06632	-0.119000	0.15052	CGC		0.741	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		A	1537647	G	A	1537647	3	1	280	1	0	0	0	0	1	0	0	0	12823	1145	40	1	977	1	PTX4	16	1537647	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	1222629	1537647	88817106	38	20050											
CIITA	4261	broad.mit.edu	37	chr16	10997663	10997663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaacatctccagaccGgccaggctccaccagcccct	8	5	6	22	1	1	1	0	0	1	1	4	1	3	1	9	2	2	1	9	2	1	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:10997663G>A	ENST00000324288.8	+	9	981	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.R234Q	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	283					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGACCGGCCAGGCTCC	0.627			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	uc002daj.4				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(850-852)cGg>cAg		Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.							95	85	88					16																	10997663		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10997663G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.848G>A	16.37:g.10997663G>A	ENSP00000316328:p.Arg283Gln					CIITA_uc002dai.4_Missense_Mutation_p.R283Q|CIITA_uc002dak.4_Missense_Mutation_p.R234Q|CIITA_uc002dag.2_Missense_Mutation_p.R283Q|CIITA_uc002dah.2_Missense_Mutation_p.R235Q|CIITA_uc010bup.1_Missense_Mutation_p.R283Q	p.R284Q	NM_000246	NP_000237	P33076	C2TA_HUMAN			8	984	+			283					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.851G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245904	0.39697	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75821	-0.97;1.16	5.47	4.51	0.55191	.	0.121584	0.36034	N	0.002824	D	0.83839	0.5341	M	0.74258	2.255	0.23168	N	0.998184	D;P;D;D;D;D	0.89917	1.0;0.89;1.0;1.0;1.0;1.0	D;B;D;D;D;D	0.87578	0.998;0.119;0.973;0.973;0.988;0.996	T	0.75416	-0.3325	10	0.59425	D	0.04	.	10.0086	0.41972	0.0932:0.0:0.9068:0.0	.	283;234;283;283;235;283	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	Q	283;234;235;283	ENSP00000316328:R283Q;ENSP00000371257:R234Q	ENSP00000316328:R283Q	R	+	2	0	CIITA	10905164	0.517000	0.26226	0.555000	0.28281	0.141000	0.21300	2.690000	0.47001	1.307000	0.44944	0.655000	0.94253	CGG		0.627	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		A	10997663	G	A	10997663	3	1	280	1	0	0	0	0	1	0	0	0	3428	1116	39	2	882	2	CIITA	16	10997663	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	9460016	10997663	79357090	39	20051											
ERN2	10595	broad.mit.edu	37	chr16	23718095	23718095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcggccaatgtagaggCggggggtggagggaccctct	6	8	19	8	2	1	1	0	0	1	1	2	3	1	3	2	7	0	2	2	7	2	2	rs201055598		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:23718095C>T	ENST00000457008.2	-	6	505	c.467G>A	c.(466-468)cGc>cAc	p.R156H	ERN2_ENST00000256797.4_Missense_Mutation_p.R204H					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGA	0.607																																						uc002dma.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(610-612)cGc>cAc		Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.							54	55	55					16																	23718095		2196	4300	6496	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718095C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.467G>A	16.37:g.23718095C>T	ENSP00000413812:p.Arg156His					ERN2_uc010bxp.3_Missense_Mutation_p.R204H|ERN2_uc010bxq.1_Missense_Mutation_p.R12H	p.R204H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	780	-			156						Missense_Mutation	SNP	ENST00000457008.2	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	C	7.097	0.573383	0.13623	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.57752	0.38;0.38	5.6	-0.0786	0.13714	Quinonprotein alcohol dehydrogenase-like (2);	0.273852	0.36066	N	0.002817	T	0.29355	0.0731	L	0.34521	1.04	0.22947	N	0.998529	B;B;P	0.49696	0.023;0.004;0.927	B;B;B	0.39068	0.007;0.004;0.289	T	0.25293	-1.0136	10	0.45353	T	0.12	.	0.7007	0.00907	0.2369:0.3752:0.1263:0.2616	.	156;156;156	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	H	204;156	ENSP00000256797:R204H;ENSP00000413812:R156H	ENSP00000256797:R204H	R	-	2	0	ERN2	23625596	0.962000	0.33011	0.815000	0.32552	0.271000	0.26615	1.893000	0.39758	0.315000	0.23110	0.462000	0.41574	CGC		0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			T	23718095	C	T	23718095	3	4	280	1	0	0	0	0	1	0	0	0	5238	768	27	1	2381	1	ERN2	16	23718095	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	12720432	23718095	66636658	40	20052											
PHF23	79142	broad.mit.edu	37	chr17	7139423	7139423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcagggggtgttggcaGcacagggactggggcttcac	7	7	17	10	0	2	0	2	0	0	0	2	1	2	1	1	6	2	4	1	6	0	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7139423G>A	ENST00000320316.3	-	4	1049	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	PHF23_ENST00000571362.1_Silent_p.L208L|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000454255.2_Silent_p.L271L|PHF23_ENST00000576955.1_Silent_p.L145L|DVL2_ENST00000575458.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	275							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGTGTTGGCAGCACAGGGACT	0.587																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(823-825)Ctg>Ttg		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							74	84	80					17																	7139423		2024	4174	6198	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139423G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.823C>T	17.37:g.7139423G>A						DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L208L|PHF23_uc010cma.3_Silent_p.L145L	p.L275L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			3	1050	-			275					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.823C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	0.409	-0.914101	0.02415	.	.	ENSG00000040633	ENST00000043410	.	.	.	4.23	3.12	0.35913	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61811	-0.6986	5	0.62326	D	0.03	-3.6619	7.564	0.27868	0.1333:0.0:0.8667:0.0	.	.	.	.	V	154	.	ENSP00000043410:A154V	A	-	2	0	PHF23	7080147	0.001000	0.12720	0.998000	0.56505	0.493000	0.33554	0.367000	0.20382	0.825000	0.34637	0.313000	0.20887	GCT		0.587	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		A	7139423	G	A	7139423	2	1	280	1	0	0	0	0	0	0	0	1	11835	962	34	3		3	PHF23	17	7139423	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08		7139423	74055787	41	20053											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	280	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	438116	7577539	73617671	42	20054											
MYH1	4619	broad.mit.edu	37	chr17	10398535	10398535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggccttcttggccttctCttctgcattgcgggcttcct	2	16	10	13	1	3	0	0	0	3	0	5	1	4	0	3	3	2	2	3	3	0	6			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:10398535C>G	ENST00000226207.5	-	36	5363	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1757					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGCCTTCTCTTCTGCATTG	0.473																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5269-5271)Gag>Cag		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							277	233	248					17																	10398535		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398535C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5269G>C	17.37:g.10398535C>G	ENSP00000226207:p.Glu1757Gln					AK097500_uc002gml.1_Intron	p.E1757Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5363	-			1757					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5269G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844393	0.91197	.	.	ENSG00000109061	ENST00000226207	D	0.83755	-1.76	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.94624	0.8267	H	0.97682	4.055	0.58432	D	0.999998	D	0.54207	0.965	D	0.68943	0.961	D	0.96218	0.9158	10	0.87932	D	0	.	19.2728	0.94018	0.0:1.0:0.0:0.0	.	1757	P12882	MYH1_HUMAN	Q	1757	ENSP00000226207:E1757Q	ENSP00000226207:E1757Q	E	-	1	0	MYH1	10339260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.618000	0.88619	0.561000	0.74099	GAG		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		G	10398535	C	G	10398535	3	3	280	1	0	0	0	0	1	0	0	0	10029	922	32	5	570	5	MYH1	17	10398535	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	2820996	10398535	70796675	43	20055											
KRT14	3861	broad.mit.edu	37	chr17	39742796	39742796	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccaccaaagccaccAcccaagccagcaccaaggcc	15	0	6	20	0	0	0	0	0	0	0	0	0	0	0	9	1	4	1	9	1	4	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:39742796A>C	ENST00000167586.6	-	1	377	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	97	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622																																						uc002hxf.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(289-291)ggT>ggG		Homo sapiens keratin 14 (KRT14), mRNA.							134	134	134					17																	39742796		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742796A>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.291T>G	17.37:g.39742796A>C						JUP_uc010wfs.2_Intron	p.G97G	NM_000526	NP_000517	P02533	K1C14_HUMAN			0	352	-		Breast(137;0.000307)	97			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.291T>G	CCDS11400.1																																																																																				0.622	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		C	39742796	A	C	39742796	2	2	280	1	0	0	0	0	0	0	0	1	8451	146	6	5		5	KRT14	17	39742796	Silent	SNP	A	TCGA-76-6664-01A-11D-1845-08	29344261	39742796	41452414	44	20056											
MIER2	54531	broad.mit.edu	37	chr19	313632	313632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccagagcagctggtcttCgttctcgtagactgcacaag	8	10	11	12	2	2	2	0	0	2	2	5	2	3	2	1	1	3	5	1	1	2	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:313632C>T	ENST00000264819.4	-	8	677	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	223	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGTCTTCGTTCTCGTAG	0.622																																						uc002lok.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(667-669)Gaa>Aaa		Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.							70	72	71					19																	313632		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:313632C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.667G>A	19.37:g.313632C>T	ENSP00000264819:p.Glu223Lys						p.E223K	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	676	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	223			ELM2.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.667G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833402	0.50951	.	.	ENSG00000105556	ENST00000264819	T	0.31769	1.48	4.9	2.74	0.32292	ELM2 domain (2);	0.283455	0.24620	N	0.036964	T	0.31949	0.0813	L	0.60067	1.865	0.49389	D	0.999782	P	0.35959	0.53	B	0.42386	0.386	T	0.14062	-1.0486	10	0.72032	D	0.01	-6.5805	5.7788	0.18294	0.0:0.6668:0.166:0.1672	.	223	Q8N344	MIER2_HUMAN	K	223	ENSP00000264819:E223K	ENSP00000264819:E223K	E	-	1	0	MIER2	264632	0.989000	0.36119	0.383000	0.26132	0.672000	0.39443	3.008000	0.49544	1.068000	0.40764	0.306000	0.20318	GAA		0.622	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		T	313632	C	T	313632	3	4	280	1	0	0	0	0	1	0	0	0	9581	893	31	2	998	2	MIER2	19	313632	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		313632	58815351	45	20057											
TUBB4	10382	broad.mit.edu	37	chr19	6495601	6495601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcggccgtggcgcgggtcGcacgccgccatcatgttctt	4	9	14	14	7	2	0	1	0	1	0	3	0	2	0	3	3	1	2	3	3	1	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:6495601G>A	ENST00000264071.2	-	4	1280	c.909C>T	c.(907-909)tgC>tgT	p.C303C	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.C303C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	303					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGCGCGGGTCGCACGCCGCCA	0.677																																						uc002mfg.1																			0											c.(907-909)tgC>tgT		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							60	58	59					19																	6495601		2202	4298	6500	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495601G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.909C>T	19.37:g.6495601G>A						TUBB4A_uc002mff.1_Silent_p.C231C|JA429441_uc021unq.1_5'Flank	p.C303C	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	1016	-			303					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.909C>T	CCDS12168.1																																																																																				0.677	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495601	G	A	6495601	2	1	280	1	0	0	0	0	0	0	0	1	16755	1079	38	1		1	TUBB4	19	6495601	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	6181969	6495601	52633382	46	20058											
MUC16	94025	broad.mit.edu	37	chr19	9089511	9089511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtcatggaggaaagaacGgctgagctgggctttgtctt	9	10	16	6	1	2	2	1	1	1	1	2	4	2	4	0	5	2	3	0	5	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:9089511G>A	ENST00000397910.4	-	1	2507	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	768	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A768A(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAAAGAACGGCTGAGCTGG	0.483																																						uc002mkp.3																			2	Substitution - coding silent(2)	p.A768A(3)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2302-2304)gcC>gcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							214	215	214					19																	9089511		2070	4229	6299	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089511G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2304C>T	19.37:g.9089511G>A							p.A768A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	2508	-			768			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2304C>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9089511	G	A	9089511	2	1	280	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9089511	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	2593910	9089511	50039472	47	20059											
DCAF15	90379	broad.mit.edu	37	chr19	14071180	14071180	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtcagtgtaggcgacctGactgaggtcaaagggcagac	12	6	14	9	1	2	3	2	2	0	1	2	4	2	3	1	3	0	2	1	3	2	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:14071180G>C	ENST00000254337.6	+	11	1629	c.1608G>C	c.(1606-1608)ctG>ctC	p.L536L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	536					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TAGGCGACCTGACTGAGGTCA	0.637											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1606-1608)ctG>ctC		Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.							111	98	103					19																	14071180		2203	4300	6503	SO:0001819	synonymous_variant	90379							g.chr19:14071180G>C	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1608G>C	19.37:g.14071180G>C			OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692	DCAF15_uc002mxu.3_Non-coding_Transcript	p.L536L	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			10	1614	+			536					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1608G>C	CCDS32926.1																																																																																				0.637	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		C	14071180	G	C	14071180	2	2	280	1	0	0	0	0	0	0	0	1	4267	1277	45	5		5	DCAF15	19	14071180	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	4981669	14071180	45057803	48	20060											
XRN2	22803	broad.mit.edu	37	chr20	21367621	21367621	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggtatccacccagaCgagatgatcgtggagggaga	10	7	16	8	2	0	4	0	1	0	3	2	7	1	5	2	4	0	1	2	4	1	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:21367621C>A	ENST00000377191.3	+	29	2859	c.2764C>A	c.(2764-2766)Cga>Aga	p.R922R	XRN2_ENST00000430571.2_Silent_p.R846R|XRN2_ENST00000539513.1_Silent_p.R868R	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	922					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCCACCCAGACGAGATGATCG	0.502																																						uc002wsf.1																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2764-2766)Cga>Aga		Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.							94	86	89					20																	21367621		2203	4300	6503	SO:0001819	synonymous_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21367621C>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2764C>A	20.37:g.21367621C>A						XRN2_uc002wsg.1_Silent_p.R846R|XRN2_uc010zsk.1_Silent_p.R868R|XRN2_uc002wsh.1_Silent_p.R60R	p.R922R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			28	2859	+			922					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	ENST00000377191.3	37	c.2764C>A	CCDS13144.1																																																																																				0.502	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		A	21367621	C	A	21367621	2	1	280	1	0	0	0	0	0	0	0	1	17457	528	19	5		5	XRN2	20	21367621	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		21367621	41657899	49	20061											
MMP9	4318	broad.mit.edu	37	chr20	44639885	44639885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgacggtcgctccgaCggcttgccctggtgcagtac	6	7	12	16	5	0	0	0	0	0	0	2	2	1	0	4	3	3	4	4	3	1	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:44639885C>T	ENST00000372330.3	+	5	772	c.753C>T	c.(751-753)gaC>gaT	p.D251D	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	251	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GTCGCTCCGACGGCTTGCCCT	0.657																																						uc002xqz.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(751-753)gaC>gaT		Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						74	77	76					20																	44639885		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639885C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.753C>T	20.37:g.44639885C>T							p.D251D	NM_004994	NP_004985	P14780	MMP9_HUMAN			4	772	+		Myeloproliferative disorder(115;0.0122)	251			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.753C>T	CCDS13390.1																																																																																				0.657	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			T	44639885	C	T	44639885	2	4	280	1	0	0	0	0	0	0	0	1	9669	535	19	1		1	MMP9	20	44639885	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	23272264	44639885	18385635	50	20062											
ARFGEF2	10564	broad.mit.edu	37	chr20	47639713	47639713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagagcacatggttgccGcccaggtaagaacaggaggc	12	5	14	10	1	0	2	0	0	0	2	0	3	0	3	2	4	4	4	2	4	2	2	rs201449025		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:47639713G>A	ENST00000371917.4	+	35	4750	c.4750G>A	c.(4750-4752)Gcc>Acc	p.A1584T		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1584					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATGGTTGCCGCCCAGGTAAG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(4750-4752)Gcc>Acc		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							77	65	69					20																	47639713		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47639713G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4750G>A	20.37:g.47639713G>A	ENSP00000360985:p.Ala1584Thr					ARFGEF2_uc010zyf.2_Missense_Mutation_p.A877T	p.A1584T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		34	4902	+			1584					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4750G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371460	0.95923	.	.	ENSG00000124198	ENST00000371917	T	0.57907	0.37	5.9	5.9	0.94986	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78816	-0.2055	10	0.62326	D	0.03	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1584	Q9Y6D5	BIG2_HUMAN	T	1584	ENSP00000360985:A1584T	ENSP00000360985:A1584T	A	+	1	0	ARFGEF2	47073120	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.700000	0.98707	2.793000	0.96121	0.563000	0.77884	GCC		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47639713	G	A	47639713	3	1	280	1	0	0	0	0	1	0	0	0	853	1087	38	1	4888	1	ARFGEF2	20	47639713	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	2999828	47639713	15385807	51	20063											
HRH3	11255	broad.mit.edu	37	chr20	60791534	60791534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccacccccgagggtcGcctccccggcctcagcgcct	4	4	10	23	5	1	0	1	0	0	0	3	1	2	0	9	2	1	0	9	2	0	0	rs374571202		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:60791534G>A	ENST00000340177.5	-	3	1150	c.866C>T	c.(865-867)gCg>gTg	p.A289V	HRH3_ENST00000317393.6_Missense_Mutation_p.A289V	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	289					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CCCGAGGGTCGCCTCCCCGGC	0.736																																						uc002yci.3																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(865-867)gCg>gTg		Homo sapiens histamine receptor H3 (HRH3), mRNA.	Histamine Phosphate(DB00667)																																			SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791534G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.866C>T	20.37:g.60791534G>A	ENSP00000342560:p.Ala289Val					HRH3_uc002ycf.2_Missense_Mutation_p.A289V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	p.A289V	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		2	1163	-	Breast(26;7.76e-09)		289					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.866C>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.67865	-0.25;-0.29	4.15	-3.37	0.04898	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42337	0.1198	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.15321	-1.0441	9	0.28530	T	0.3	0.04	2.0362	0.03540	0.2262:0.2577:0.3974:0.1187	.	289;289	Q9Y5N1-2;Q9Y5N1	.;HRH3_HUMAN	V	289;289;259	ENSP00000342560:A289V;ENSP00000321482:A289V	ENSP00000321482:A289V	A	-	2	0	HRH3	60224929	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.032000	0.03574	-0.941000	0.03700	-1.026000	0.02426	GCG		0.736	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		A	60791534	G	A	60791534	3	1	280	1	0	0	0	0	1	0	0	0	7357	1087	38	1	475	1	HRH3	20	60791534	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	13151821	60791534	2233986	52	20064											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642347	19642347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcatacactccggggCgattaggcagggcacacttg	8	7	13	13	2	0	0	0	0	0	0	1	1	1	0	2	5	1	3	2	5	2	3	rs192022515	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr21:19642347C>T	ENST00000284885.3	-	25	3032	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1000	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTCCGGGGCGATTAGGCAG	0.448													C|||	3	0.000599042	0	0.0014	5008	,	,		11702	0		0.002	False		,,,				2504	0					uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2998-3000)cGc>cAc		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							138	124	129					21																	19642347		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642347C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2999G>A	21.37:g.19642347C>T	ENSP00000284885:p.Arg1000His						p.R1000H	NM_002772	NP_002763	P98073	ENTK_HUMAN			24	3030	-			1000			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2999G>A	CCDS13571.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.63	2.295276	0.40594	.	.	ENSG00000154646	ENST00000284885	D	0.89617	-2.54	5.99	3.19	0.36642	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254138	0.31834	N	0.006990	T	0.78246	0.4253	L	0.31664	0.95	0.37423	D	0.913701	P	0.40302	0.712	B	0.31442	0.13	T	0.74334	-0.3699	9	.	.	.	.	10.0569	0.42250	0.0:0.7896:0.0:0.2104	.	1000	P98073	ENTK_HUMAN	H	1000	ENSP00000284885:R1000H	.	R	-	2	0	TMPRSS15	18564218	0.402000	0.25311	0.991000	0.47740	0.498000	0.33706	1.109000	0.31135	0.414000	0.25790	0.655000	0.94253	CGC		0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19642347	C	T	19642347	3	4	280	1	0	0	0	0	1	0	0	0	16243	768	27	1	64	1	TMPRSS15	21	19642347	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		19642347	28487548	53	20065											
AIFM3	150209	broad.mit.edu	37	chr22	21332217	21332217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtgtttgcagctggcgAtgctgtcaccttcccccttg	4	12	12	13	2	1	0	1	0	0	0	2	1	2	0	3	2	3	4	3	2	0	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr22:21332217A>T	ENST00000399167.2	+	16	1640	c.1400A>T	c.(1399-1401)gAt>gTt	p.D467V	AIFM3_ENST00000335375.5_Missense_Mutation_p.D455V|AIFM3_ENST00000333607.6_Missense_Mutation_p.D467V|AIFM3_ENST00000399163.2_Missense_Mutation_p.D467V|AIFM3_ENST00000440238.2_Missense_Mutation_p.D467V|AIFM3_ENST00000405089.1_Missense_Mutation_p.D473V|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	467					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGCTGGCGATGCTGTCACC	0.582																																						uc002ztj.2																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1399-1401)gAt>gTt		Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							136	99	112					22																	21332217		2203	4300	6503	SO:0001583	missense	150209				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21332217A>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1400A>T	22.37:g.21332217A>T	ENSP00000382120:p.Asp467Val					LZTR1_uc002ztk.2_Missense_Mutation_p.D467V|LZTR1_uc002ztl.2_Missense_Mutation_p.D473V|LZTR1_uc011ahx.1_Missense_Mutation_p.D455V|LZTR1_uc002ztn.3_5'Flank	p.D467V	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1618	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	0			BTB 1.		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.1400A>T	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717879	0.48622	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.56	4.56	0.56223	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	H	0.99415	4.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.998;0.998;0.999	D	0.94224	0.7470	10	0.87932	D	0	-8.6169	12.1655	0.54127	1.0:0.0:0.0:0.0	.	455;455;473;467;467	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	V	467;467;473;455;467;467	ENSP00000382120:D467V;ENSP00000382116:D467V;ENSP00000385800:D473V;ENSP00000335369:D455V;ENSP00000390798:D467V;ENSP00000327671:D467V	ENSP00000327671:D467V	D	+	2	0	AIFM3	19662217	1.000000	0.71417	0.872000	0.34217	0.059000	0.15707	5.560000	0.67332	1.822000	0.53115	0.460000	0.39030	GAT		0.582	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21332217	A	T	21332217	3	4	280	1	0	0	0	0	1	0	0	0	428	333	12	5	1476	5	AIFM3	22	21332217	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08		21332217	29972349	54	20066											
PNPLA4	8228	broad.mit.edu	37	chrX	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggggagatgtccagtcGtccactgaagggggagatgg	8	7	18	8	2	0	3	0	1	0	2	3	5	2	3	2	5	1	0	2	5	1	0	rs372843326		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:7870101G>A	ENST00000381042.4	-	6	729	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.R100*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.R187*	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	187			R -> Q (in dbSNP:rs2231793).		lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512																																						uc011mhq.1																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(559-561)Cga>Tga		Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG,stop/ARG	2,3833		0,1,1,1631,570	126	107	113		559,298,559	3	0	X		113	0,6727		0,0,0,2428,1871	no	stop-gained,stop-gained,stop-gained	PNPLA4	NM_001142389.1,NM_001172672.1,NM_004650.2	,,	0,1,1,4059,2441	AA,AG,A,GG,G		0.0,0.0522,0.0189	,,	187/254,100/167,187/254	7870101	2,10560	2203	4299	6502	SO:0001587	stop_gained	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7870101G>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.559C>T	X.37:g.7870101G>A	ENSP00000370430:p.Arg187*					PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	p.R187*	NM_004650	NP_001166143	P41247	PLPL4_HUMAN			5	721	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	187		R -> Q (in dbSNP:rs2231793).			A8K1H3|B4E362|Q8WW83	Nonsense_Mutation	SNP	ENST00000381042.4	37	c.559C>T	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180981	0.57800	5.22E-4	0.0	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	.	.	.	3.84	2.97	0.34412	.	0.292311	0.29009	N	0.013434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-16.2959	8.0924	0.30807	0.0:0.0:0.7596:0.2404	.	.	.	.	X	187;187;100;187	.	ENSP00000370430:R187X	R	-	1	2	PNPLA4	7830101	0.182000	0.23173	0.011000	0.14972	0.933000	0.57130	1.978000	0.40598	0.786000	0.33708	0.600000	0.82982	CGA		0.512	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		A	7870101	G	A	7870101	4	1	280	1	0	0	0	0	0	1	0	0	12167	1153	40	1	210	1	PNPLA4	23	7870101	Nonsense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		7870101	147400459	55	20067											
SMS	6611	broad.mit.edu	37	chrX	21995314	21995314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatataaaaattctacactcGaagcagtttggaaatattct	17	13	5	6	1	2	0	0	0	2	0	3	2	2	1	0	1	2	2	0	1	9	7			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:21995314G>A	ENST00000404933.2	+	5	717	c.465G>A	c.(463-465)tcG>tcA	p.S155S	SMS_ENST00000415881.2_Silent_p.S59S|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000379404.1_Silent_p.S102S	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	155	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TTCTACACTCGAAGCAGTTTG	0.433																																						uc004dag.3																			0		p.S155L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14						c.(463-465)tcG>tcA		Homo sapiens spermine synthase (SMS), mRNA.	Spermine(DB00127)						83	85	84					X																	21995314		2203	4300	6503	SO:0001819	synonymous_variant	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21995314G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.465G>A	X.37:g.21995314G>A						SMS_uc011mjq.2_Silent_p.S59S	p.S155S	NM_004595	NP_004586	P52788	SPSY_HUMAN			4	693	+			155					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Silent	SNP	ENST00000404933.2	37	c.465G>A	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	0.270	-0.993831	0.02145	.	.	ENSG00000102172	ENST00000457085	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82313	-0.0519	4	.	.	.	-9.5493	19.5087	0.95132	0.7932:0.0:0.1358:0.0709	.	.	.	.	K	247	.	.	E	+	1	0	SMS	21905235	0.000000	0.05858	0.007000	0.13788	0.258000	0.26162	-2.583000	0.00904	-4.082000	0.00075	-2.184000	0.00315	GAA		0.433	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		A	21995314	G	A	21995314	2	1	280	1	0	0	0	0	0	0	0	1	14813	1045	37	2		2	SMS	23	21995314	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	14125213	21995314	133275246	56	20068											
MAOB	4129	broad.mit.edu	37	chrX	43628565	43628565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccctacctctcgggctgCtctctccccggcctctacag	5	9	8	19	2	3	1	0	0	3	1	6	1	4	1	5	2	3	2	5	2	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:43628565C>G	ENST00000378069.4	-	13	1483	c.1336G>C	c.(1336-1338)Gca>Cca	p.A446P	MAOB_ENST00000538942.1_Missense_Mutation_p.S397T|MAOB_ENST00000536181.1_Missense_Mutation_p.A430P	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	446					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TCTCGGGCTGCTCTCTCCCCG	0.572																																						uc004dfz.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(1336-1338)Gca>Cca		Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						74	54	61					X																	43628565		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43628565C>G		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.1336G>C	X.37:g.43628565C>G	ENSP00000367309:p.Ala446Pro					MAOB_uc011mkx.2_Missense_Mutation_p.S397T|MAOB_uc011mky.2_Missense_Mutation_p.A430P	p.A446P	NM_000898	NP_000889	P27338	AOFB_HUMAN			12	1512	-			446					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.1336G>C	CCDS14261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.555589|3.555589	0.65425|0.65425	.|.	.|.	ENSG00000069535|ENSG00000069535	ENST00000378069;ENST00000536181|ENST00000538942	D;D|T	0.95342|0.34472	-3.68;-3.68|1.36	6.03|6.03	6.03|6.03	0.97812|0.97812	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56514|0.56514	0.1990|0.1990	H|H	0.95712|0.95712	3.71|3.71	0.41343|0.41343	D|D	0.987319|0.987319	D|P	0.89917|0.43633	1.0|0.813	D|B	0.81914|0.40165	0.995|0.321	T|T	0.71596|0.71596	-0.4545|-0.4545	10|8	0.72032|.	D|.	0.01|.	-15.9354|-15.9354	18.0899|18.0899	0.89471|0.89471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446|397	P27338|B7Z5H3	AOFB_HUMAN|.	P|T	446;430|397	ENSP00000367309:A446P;ENSP00000441613:A430P|ENSP00000442240:S397T	ENSP00000367309:A446P|.	A|S	-|-	1|2	0|0	MAOB|MAOB	43513509|43513509	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	7.008000|7.008000	0.76341|0.76341	2.549000|2.549000	0.85964|0.85964	0.583000|0.583000	0.79449|0.79449	GCA|AGC		0.572	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		G	43628565	C	G	43628565	3	3	280	1	0	0	0	0	1	0	0	0	9226	797	28	5	238	5	MAOB	23	43628565	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	21633251	43628565	111641995	57	20069											
CFP	5199	broad.mit.edu	37	chrX	47486225	47486225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggtggcatcgccagcaCagaaggggcccccatgctgg	7	5	15	14	2	0	1	0	0	0	1	2	1	1	1	4	5	2	3	4	5	1	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:47486225C>G	ENST00000396992.3	-	6	1007	c.887G>C	c.(886-888)tGt>tCt	p.C296S	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.C296S|CFP_ENST00000377005.2_Missense_Mutation_p.C296S	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	296	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGCCAGCACAGAAGGGGCC	0.642																																						uc004dih.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(886-888)tGt>tCt		Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.							45	41	42					X																	47486225		2203	4298	6501	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486225C>G	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.887G>C	X.37:g.47486225C>G	ENSP00000380189:p.Cys296Ser					CFP_uc004dig.4_Missense_Mutation_p.C296S|CFP_uc004dii.1_Missense_Mutation_p.C232S|CFP_uc010nhu.2_Missense_Mutation_p.C296S	p.C296S	NM_002621	NP_002612	P27918	PROP_HUMAN			6	1129	-			296			TSP type-1 4.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.887G>C	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388785	0.61956	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92313	0.5859	10	0.87932	D	0	.	13.5925	0.61967	0.0:1.0:0.0:0.0	.	232;296	B3KVK6;P27918	.;PROP_HUMAN	S	296;296;296;161	ENSP00000380189:C296S;ENSP00000247153:C296S;ENSP00000366204:C296S;ENSP00000418258:C161S	ENSP00000247153:C296S	C	-	2	0	CFP	47371169	1.000000	0.71417	0.091000	0.20842	0.617000	0.37484	5.862000	0.69560	2.365000	0.80145	0.529000	0.55759	TGT		0.642	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		G	47486225	C	G	47486225	3	3	280	1	0	0	0	0	1	0	0	0	3293	478	17	5	538	5	CFP	23	47486225	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	3857660	47486225	107784335	58	20070											
DGAT2L6	347516	broad.mit.edu	37	chrX	69421881	69421881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactctcttcctcaagcagcGtaaaggttttgtgaagatgg	10	12	10	9	1	2	2	1	1	1	1	4	2	3	2	1	2	2	3	1	2	4	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:69421881G>A	ENST00000333026.3	+	5	714	c.614G>A	c.(613-615)cGt>cAt	p.R205H		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	205					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTCAAGCAGCGTAAAGGTTTT	0.547																																						uc004dxx.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(613-615)cGt>cAt		Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.							92	66	75					X																	69421881		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69421881G>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.614G>A	X.37:g.69421881G>A	ENSP00000328036:p.Arg205His						p.R205H	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			4	711	+			205					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.614G>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561508	0.45590	.	.	ENSG00000184210	ENST00000333026	T	0.28255	1.62	4.72	3.86	0.44501	.	0.000000	0.64402	D	0.000003	T	0.38081	0.1027	M	0.84156	2.68	0.51767	D	0.999937	B	0.28801	0.223	B	0.31290	0.127	T	0.37361	-0.9709	10	0.72032	D	0.01	-10.2623	10.13	0.42674	0.1008:0.0:0.8992:0.0	.	205	Q6ZPD8	DG2L6_HUMAN	H	205	ENSP00000328036:R205H	ENSP00000328036:R205H	R	+	2	0	DGAT2L6	69338606	0.993000	0.37304	0.134000	0.22075	0.671000	0.39405	4.522000	0.60539	1.116000	0.41820	0.594000	0.82650	CGT		0.547	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		A	69421881	G	A	69421881	3	1	280	1	0	0	0	0	1	0	0	0	4459	1145	40	1	632	1	DGAT2L6	23	69421881	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	21935656	69421881	85848679	59	20071											
ATP7A	538	broad.mit.edu	37	chrX	77296145	77296145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagcctgaagcagaactgGctatccatattctgaaatct	13	11	8	9	0	2	4	0	3	2	1	3	4	3	4	2	1	3	2	2	1	6	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:77296145G>T	ENST00000341514.6	+	19	3870	c.3715G>T	c.(3715-3717)Gct>Tct	p.A1239S	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1161S|ATP7A_ENST00000350425.4_Missense_Mutation_p.A242S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1239					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGCAGAACTGGCTATCCATAT	0.413																																						uc004ecx.4																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3715-3717)Gct>Tct		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.							141	132	135					X																	77296145		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77296145G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3715G>T	X.37:g.77296145G>T	ENSP00000345728:p.Ala1239Ser						p.A1239S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			18	3875	+			1239					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3715G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125822	0.56721	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97209	-4.29;-4.29;-4.29	4.77	4.77	0.60923	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.74258	2.255	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.97397	0.9993	10	0.87932	D	0	-15.9209	17.202	0.86908	0.0:0.0:1.0:0.0	.	1239	Q04656	ATP7A_HUMAN	S	1161;242;1239	ENSP00000343026:A1161S;ENSP00000343678:A242S;ENSP00000345728:A1239S	ENSP00000345728:A1239S	A	+	1	0	ATP7A	77182801	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	9.683000	0.98657	2.071000	0.62044	0.370000	0.22315	GCT		0.413	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		T	77296145	G	T	77296145	3	4	280	1	0	0	0	0	1	0	0	0	1190	1203	42	5	3785	5	ATP7A	23	77296145	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	7874264	77296145	77974415	60	20072											
TMSB15A	11013	broad.mit.edu	37	chrX	101770022	101770022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagagtatttttttcttCagtattagttttcttcagtt	8	21	8	4	0	4	1	2	0	2	1	4	2	4	2	0	1	0	4	0	1	4	11			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101770022C>T	ENST00000289373.4	-	2	205	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	24					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						TTTTTTTCTTCAGTATTAGTT	0.368																																						uc004eje.3																			0				large_intestine(1)|lung(1)	2						c.(70-72)Gaa>Aaa		Homo sapiens thymosin beta 15a (TMSB15A), mRNA.							134	127	130					X																	101770022		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770022C>T	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"thymosin-like 8"	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.70G>A	X.37:g.101770022C>T	ENSP00000289373:p.Glu24Lys						p.E24K	NM_021992	NP_919305	P0CG34	TB15A_HUMAN			1	193	-			24					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.70G>A	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	C	9.359	1.067541	0.20067	.	.	ENSG00000158164	ENST00000289373	T	0.43294	0.95	3.65	0.785	0.18584	.	0.102627	0.35525	N	0.003141	T	0.27559	0.0677	.	.	.	0.18873	N	0.999985	B	0.02656	0.0	B	0.10450	0.005	T	0.16453	-1.0402	9	0.45353	T	0.12	-21.8701	7.1635	0.25677	0.0:0.6528:0.0:0.3472	.	24	P0CG34	TB15A_HUMAN	K	24	ENSP00000289373:E24K	ENSP00000289373:E24K	E	-	1	0	TMSB15A	101656678	0.939000	0.31865	0.013000	0.15412	0.262000	0.26303	0.385000	0.20685	0.138000	0.18790	0.529000	0.55759	GAA		0.368	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992		T	101770022	C	T	101770022	3	4	280	1	0	0	0	0	1	0	0	0	16252	835	29	3	75	3	TMSB15A	23	101770022	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	24473877	101770022	53500538	61	20073											
GPRASP2	114928	broad.mit.edu	37	chrX	101970131	101970131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtggcgctcgttctaaaActgatgccaaggcaatccct	10	10	10	11	2	1	1	0	1	1	0	3	1	2	1	2	3	2	3	2	3	5	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101970131A>G	ENST00000535209.1	+	4	1165	c.334A>G	c.(334-336)Act>Gct	p.T112A	GPRASP2_ENST00000543253.1_Missense_Mutation_p.T112A|GPRASP2_ENST00000332262.5_Missense_Mutation_p.T112A			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	112						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCGTTCTAAAACTGATGCCAA	0.572																																						uc022cbh.1																			0											c.(334-336)Act>Gct		Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.							88	89	88					X																	101970131		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101970131A>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.334A>G	X.37:g.101970131A>G	ENSP00000437394:p.Thr112Ala					ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.T112A	p.T112A	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN			0	334	+			112					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.334A>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	A	6.934	0.542031	0.13250	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.04083	3.71;3.71;3.71	4.76	3.62	0.41486	.	0.134152	0.34725	N	0.003733	T	0.02418	0.0074	L	0.29908	0.895	0.25122	N	0.990634	P	0.36086	0.536	B	0.25405	0.06	T	0.34279	-0.9835	10	0.02654	T	1	.	7.088	0.25267	0.8904:0.0:0.1096:0.0	.	112	Q96D09	GASP2_HUMAN	A	112	ENSP00000437872:T112A;ENSP00000437394:T112A;ENSP00000339057:T112A	ENSP00000339057:T112A	T	+	1	0	GPRASP2	101856787	0.025000	0.19082	0.839000	0.33178	0.003000	0.03518	0.178000	0.16820	1.830000	0.53286	0.486000	0.48141	ACT		0.572	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		G	101970131	A	G	101970131	3	3	280	1	0	0	0	0	1	0	0	0	6723	43	2	4	336	4	GPRASP2	23	101970131	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08	200109	101970131	53300429	62	20074											
RAB9B	51209	broad.mit.edu	37	chrX	103080388	103080388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagggtccttcacatcCgcatagtaaataaattcttt	11	14	6	10	1	3	0	2	0	1	0	5	0	5	0	2	1	1	3	2	1	5	6	rs142893082	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:103080388C>T	ENST00000243298.2	-	3	611	c.327G>A	c.(325-327)gcG>gcA	p.A109A		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	109					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CCTTCACATCCGCATAGTAAA	0.488													C|||	1	0.000264901	0	0	3775	,	,		15686	0		0.001	False		,,,				2504	0					uc004ell.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						c.(325-327)gcG>gcA		Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.		C		2,3833		0,2,0,1630,571	141	142	141		327	3.4	1	X	dbSNP_134	141	12,6716		0,7,5,2421,1867	no	coding-synonymous	RAB9B	NM_016370.2		0,9,5,4051,2438	TT,TC,T,CC,C		0.1784,0.0522,0.1325		109/202	103080388	14,10549	2203	4300	6503	SO:0001819	synonymous_variant	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080388C>T	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"RAB, member RAS oncogene"	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.327G>A	X.37:g.103080388C>T						RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Silent_p.A109A	p.A109A	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN			2	666	-			109					B2R8M0|Q52LX2	Silent	SNP	ENST00000243298.2	37	c.327G>A	CCDS14515.1																																																																																				0.488	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1			T	103080388	C	T	103080388	2	4	280	1	0	0	0	0	0	0	0	1	12959	639	23	2		2	RAB9B	23	103080388	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	1110257	103080388	52190172	63	20075											
HMGB4	127540	broad.mit.edu	37	chr1	34330273	34330273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggaacttgaactctacCgtaaacaatgtaatgccagg	14	9	9	9	2	1	1	0	1	1	0	2	3	1	2	2	2	5	2	2	2	7	4	rs192690973	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:34330273C>T	ENST00000522796.1	+	4	2386	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.R161C|CSMD2_ENST00000373381.4_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	161						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACTCTACCGTAAACAATG	0.478													C|||	3	0.000599042	0	0	5008	,	,		18413	0		0.003	False		,,,				2504	0					uc021oky.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(481-483)Cgt>Tgt		Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.							60	67	65					1																	34330273		2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34330273C>T		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.481C>T	1.37:g.34330273C>T	ENSP00000430919:p.Arg161Cys					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R161C|HMGB4_uc001bxq.3_Missense_Mutation_p.R87C	p.R161C	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN			0	481	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	161					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.481C>T	CCDS30668.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	13.28	2.188796	0.38609	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.98164	-4.76;-4.76	5.1	4.19	0.49359	.	0.495214	0.16757	N	0.200744	D	0.96617	0.8896	M	0.66378	2.025	0.32737	N	0.508219	B	0.18863	0.031	B	0.10450	0.005	D	0.98014	1.0367	10	0.54805	T	0.06	.	9.5638	0.39385	0.0:0.905:0.0:0.095	.	161	B2R4X7	.	C	161	ENSP00000429214:R161C;ENSP00000430919:R161C	ENSP00000429214:R161C	R	+	1	0	HMGB4	34102860	0.765000	0.28485	0.510000	0.27712	0.047000	0.14425	1.661000	0.37408	1.377000	0.46286	0.609000	0.83330	CGT		0.478	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		T	34330273	C	T	34330273	3	4	281	1	0	0	0	0	1	0	0	0	7228	652	23	2	483	2	HMGB4	1	34330273	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		34330273	214920348	1	20076											
STK40	83931	broad.mit.edu	37	chr1	36820904	36820904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacgtagtgctgcaggTtgatgaggtcagcggtctta	8	12	15	6	2	2	4	1	4	1	0	2	4	2	4	0	3	3	4	0	3	2	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:36820904T>C	ENST00000373129.3	-	6	879	c.473A>G	c.(472-474)aAc>aGc	p.N158S	STK40_ENST00000359297.2_Missense_Mutation_p.N158S|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373132.3_Missense_Mutation_p.N158S|STK40_ENST00000373130.3_Missense_Mutation_p.N163S	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GTGCTGCAGGTTGATGAGGTC	0.562																																						uc001cak.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(472-474)aAc>aGc		Homo sapiens serine/threonine kinase 40 (STK40), mRNA.							268	230	243					1																	36820904		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36820904T>C	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.473A>G	1.37:g.36820904T>C	ENSP00000362221:p.Asn158Ser					STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	p.N158S	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN			5	880	-		Myeloproliferative disorder(586;0.0393)	158			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.473A>G	CCDS407.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684792	0.88639	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	N	0.17901	0.54	0.80722	D	1	P;D;D	0.67145	0.835;0.995;0.996	B;P;D	0.64042	0.435;0.87;0.921	T	0.66666	-0.5866	10	0.41790	T	0.15	-38.8407	15.5237	0.75885	0.0:0.0:0.0:1.0	.	158;163;158	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	S	158;158;163;158	ENSP00000362221:N158S;ENSP00000352245:N158S;ENSP00000362222:N163S;ENSP00000362224:N158S	ENSP00000352245:N158S	N	-	2	0	STK40	36593491	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.611000	0.82962	2.263000	0.75096	0.379000	0.24179	AAC		0.562	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		C	36820904	T	C	36820904	3	2	281	1	0	0	0	0	1	0	0	0	15306	1725	60	4	862	4	STK40	1	36820904	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	2490631	36820904	212429717	2	20077											
CTPS	1503	broad.mit.edu	37	chr1	41461704	41461705	+	Frame_Shift_Ins	INS	-	-	A																															cctattgagaggcagccaagINSaaaaatgctgatgaaatgga																										TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:41461704_41461705insA	ENST00000372621.4	+	8	1344_1345	c.836_837insA	c.(835-840)agaaaafs	p.RK279fs	CTPS1_ENST00000372616.1_Frame_Shift_Ins_p.RK279fs|CTPS1_ENST00000543104.1_Frame_Shift_Ins_p.RK286fs|CTPS1_ENST00000541520.1_Frame_Shift_Ins_p.RK48fs	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						AGGCAGCCAAGAAAAATGCTGA	0.475																																						uc001cgk.4																			0				endometrium(3)|lung(10)	13						c.(835-837)agafs		Homo sapiens CTP synthase (CTPS), mRNA.	L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41461704_41461705insA	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.841dupA	1.37:g.41461709_41461709dupA	ENSP00000361704:p.Arg279fs					CTPS1_uc010ojo.2_Frame_Shift_Ins_p.R48fs|CTPS1_uc010ojp.1_Frame_Shift_Ins_p.R286fs|CTPS1_uc001cgl.4_Frame_Shift_Ins_p.R279fs|CTPS1_uc010ojq.2_Frame_Shift_Ins_p.R123fs	p.R279fs	NM_001905	NP_001896	P17812	PYRG1_HUMAN			7	1344_1345	+			279						Frame_Shift_Ins	INS	ENST00000372621.4	37	c.836_837insA	CCDS459.1																																																																																				0.475	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		A	41461705	-	A	41461704	7	5	281	1	0	1	1	0	0	0	0	0	4022	942	33	0	862	0	CTPS	1	41461704	Frame_Shift_Ins	INS	-	TCGA-81-5910-01A-11D-1696-08	4640800	41461704	207788917	3	20078											
IFI44L	10964	broad.mit.edu	37	chr1	79094655	79094655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattaaggataacctagaCgacataaagaggataattaa	20	8	9	4	1	0	2	0	0	0	2	0	6	0	5	1	3	1	0	1	3	8	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:79094655C>T	ENST00000370751.5	+	3	677	c.498C>T	c.(496-498)gaC>gaT	p.D166D	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	166					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294																																						uc010oro.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(496-498)gaC>gaT		Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.							83	86	85					1																	79094655		2203	4300	6503	SO:0001819	synonymous_variant	10964					cytoplasm		g.chr1:79094655C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.498C>T	1.37:g.79094655C>T						IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	p.D166D	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			2	677	+			166					Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	c.498C>T	CCDS687.2																																																																																				0.294	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		T	79094655	C	T	79094655	2	4	281	1	0	0	0	0	0	0	0	1	7518	535	19	1		1	IFI44L	1	79094655	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	37632951	79094655	170155966	4	20079											
OR6N1	128372	broad.mit.edu	37	chr1	158735944	158735944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggaagtcacaaaagaCgtgctgaatgcgattggggc	13	6	16	6	2	1	2	1	1	0	1	1	5	1	4	0	4	2	1	0	4	4	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:158735944C>T	ENST00000335094.2	-	1	548	c.529G>A	c.(529-531)Gtc>Atc	p.V177I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAAAAGACGTGCTGAATG	0.473																																						uc010piq.2																			0		p.V177V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(529-531)Gtc>Atc		Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.							100	103	102					1																	158735944		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735944C>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.529G>A	1.37:g.158735944C>T	ENSP00000335535:p.Val177Ile						p.V177I	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			0	529	-	all_hematologic(112;0.0378)		177					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.529G>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	0.720	-0.783763	0.02907	.	.	ENSG00000197403	ENST00000335094	T	0.00084	8.75	4.78	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.141721	0.32444	N	0.006084	T	0.00012	0.0000	N	0.00707	-1.245	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.48747	-0.9008	10	0.41790	T	0.15	-14.6426	4.1324	0.10156	0.2733:0.0909:0.0:0.6358	.	177	Q8NGY5	OR6N1_HUMAN	I	177	ENSP00000335535:V177I	ENSP00000335535:V177I	V	-	1	0	OR6N1	157002568	0.061000	0.20836	1.000000	0.80357	0.976000	0.68499	0.258000	0.18387	0.825000	0.34637	-0.294000	0.09567	GTC		0.473	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		T	158735944	C	T	158735944	3	4	281	1	0	0	0	0	1	0	0	0	11206	536	19	1	412	1	OR6N1	1	158735944	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	79641289	158735944	90514677	5	20080											
USH2A	7399	broad.mit.edu	37	chr1	216419959	216419959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacaccttcttccttgaCgattaggcacacacaggcac	11	10	7	13	1	1	1	0	1	1	0	2	3	2	1	2	2	1	2	2	2	2	5	rs146916397	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:216419959C>T	ENST00000307340.3	-	13	3163	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	USH2A_ENST00000366942.3_Missense_Mutation_p.R926H|USH2A_ENST00000366943.2_Missense_Mutation_p.R926H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	926	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCCTTGACGATTAGGCAC	0.423										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2776-2778)cGt>cAt		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	172	168	169		2777,2777	2.7	0.4	1	dbSNP_134	169	1,8599	2.2+/-6.3	0,1,4299	yes	missense,missense	USH2A	NM_007123.5,NM_206933.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	926/1547,926/5203	216419959	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216419959C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2777G>A	1.37:g.216419959C>T	ENSP00000305941:p.Arg926His	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.R926H	p.R926H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	12	3164	-			926			Laminin EGF-like 8.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2777G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476646	0.44044	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61510	0.1;0.1;0.1	6.03	2.73	0.32206	EGF-like, laminin (4);	0.173314	0.27640	N	0.018461	T	0.42268	0.1195	L	0.45137	1.4	0.30967	N	0.722995	B;P	0.35507	0.085;0.506	B;B	0.30782	0.045;0.12	T	0.42207	-0.9465	10	0.15066	T	0.55	.	10.7361	0.46126	0.0:0.7186:0.0:0.2814	.	926;926	O75445-2;O75445	.;USH2A_HUMAN	H	926	ENSP00000305941:R926H;ENSP00000355910:R926H;ENSP00000355909:R926H	ENSP00000305941:R926H	R	-	2	0	USH2A	214486582	0.179000	0.23135	0.448000	0.26945	0.981000	0.71138	0.635000	0.24629	0.881000	0.35993	0.655000	0.94253	CGT		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216419959	C	T	216419959	3	4	281	1	0	0	0	0	1	0	0	0	17033	536	19	1	13085	1	USH2A	1	216419959	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	57684015	216419959	32830662	6	20081											
OR2L2	26246	broad.mit.edu	37	chr1	248202093	248202094	+	Frame_Shift_Ins	INS	-	-	T																															aagtccagagccatcaatcaINSttttttctgtgatgttccag																										TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:248202093_248202094insT	ENST00000366479.2	+	1	620_621	c.524_525insT	c.(523-528)cattttfs	p.HF175fs	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCATCAATCATTTTTTCTGTG	0.431																																						uc001idw.3																			0		p.H175Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(523-525)catfs		Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.																																				SO:0001589	frameshift_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202093_248202094insT	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.530dupT	1.37:g.248202099_248202099dupT	ENSP00000355435:p.His175fs					OR2L13_uc001ids.3_Intron	p.H175fs	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	620_621	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		175					Q2M3T5	Frame_Shift_Ins	INS	ENST00000366479.2	37	c.524_525insT	CCDS31103.1																																																																																				0.431	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248202094	-	T	248202093	7	5	281	1	0	1	1	0	0	0	0	0	11007	217	8	0	526	0	OR2L2	1	248202093	Frame_Shift_Ins	INS	-	TCGA-81-5910-01A-11D-1696-08	31782134	248202093	1048528	7	20082											
AFF3	3899	broad.mit.edu	37	chr2	100209854	100209854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctcatcactgtcctttaGaggggagagaagttcgttcc	9	12	11	9	1	2	2	2	0	1	2	6	5	4	3	2	2	0	2	2	2	2	4	rs56151323		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:100209854G>C	ENST00000409236.2	-	13	2381	c.2269C>G	c.(2269-2271)Cta>Gta	p.L757V	AFF3_ENST00000409579.1_Missense_Mutation_p.L782V|AFF3_ENST00000356421.2_Missense_Mutation_p.L782V|AFF3_ENST00000317233.4_Missense_Mutation_p.L757V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	757					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGTCCTTTAGAGGGGAGAGA	0.572																																						uc002taf.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2344-2346)Cta>Gta		Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.							69	65	66					2																	100209854		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209854G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2269C>G	2.37:g.100209854G>C	ENSP00000387207:p.Leu757Val					AFF3_uc002tag.3_Missense_Mutation_p.L757V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	p.L782V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN			13	2488	-			757					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2344C>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359926	0.41801	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.5	0.364	0.16124	.	0.313023	0.26079	N	0.026466	T	0.79482	0.4453	M	0.64997	1.995	0.20074	N	0.999938	D;P;D	0.57899	0.981;0.768;0.976	D;P;P	0.63033	0.91;0.739;0.797	T	0.67780	-0.5582	10	0.23302	T	0.38	.	5.4631	0.16627	0.4653:0.0:0.4048:0.1299	.	910;757;782	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	757;782;782;757;757;910	ENSP00000317421:L757V;ENSP00000348793:L782V;ENSP00000386834:L782V;ENSP00000387207:L757V	ENSP00000317421:L757V	L	-	1	2	AFF3	99576286	0.835000	0.29415	0.032000	0.17829	0.957000	0.61999	0.419000	0.21247	-0.223000	0.09943	-0.258000	0.10820	CTA		0.572	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		C	100209854	G	C	100209854	3	2	281	1	0	0	0	0	1	0	0	0	358	933	33	5	1455	5	AFF3	2	100209854	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		100209854	142989519	8	20083											
SCN9A	6335	broad.mit.edu	37	chr2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccagttccacgggtcacGaagaaaagtgaattctccta	13	8	9	11	2	2	2	1	1	1	1	4	3	3	2	3	1	1	1	3	1	5	3	rs202083986		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:167162345G>A	ENST00000409435.1	-	4	552	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_ENST00000375387.4_Missense_Mutation_p.R186C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R186C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R185C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	185					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGGGTCACGAAGAAAAGTG	0.378																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(553-555)Cgt>Tgt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						84	82	83					2																	167162345		1843	4105	5948	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167162345G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.553C>T	2.37:g.167162345G>A	ENSP00000386330:p.Arg185Cys					SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	p.R185C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			4	894	-			185					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.553C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.490953	0.84962	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.96	5.96	0.96718	Ion transport (1);	0.089808	0.49916	D	0.000134	D	0.99477	0.9814	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98485	1.0607	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	185;185;186	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	185;186;186;185;50;50	ENSP00000386306:R185C;ENSP00000364536:R186C;ENSP00000304748:R186C;ENSP00000386330:R185C;ENSP00000413212:R50C;ENSP00000393141:R50C	ENSP00000304748:R186C	R	-	1	0	SCN9A	166870591	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	2.299000	0.43611	2.831000	0.97527	0.650000	0.86243	CGT		0.378	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167162345	G	A	167162345	3	1	281	1	0	0	0	0	1	0	0	0	13925	1058	37	2	5472	2	SCN9A	2	167162345	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	66952491	167162345	76037028	9	20084											
XIRP2	129446	broad.mit.edu	37	chr2	168100110	168100110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaagtataaaatgtttCgaaactcaaccattatatgt	19	12	5	5	1	1	1	1	0	0	1	2	2	1	1	1	0	2	2	1	0	10	5	rs76149079	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:168100110C>T	ENST00000409195.1	+	9	2297	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F736F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F514F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	561					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAATGTTTCGAAACTCAAC	0.368													C|||	18	0.00359425	0.0136	0	5008	,	,		19910	0		0	False		,,,				2504	0					uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2206-2208)ttC>ttT		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.		C	,,,,	34,3672		0,34,1819	58	55	56		,,1542,,2208	2.2	1	2	dbSNP_132	56	0,8182		0,0,4091	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,34,5910	TT,TC,CC		0.0,0.9174,0.286	,,,,	,,514/3328,,736/3550	168100110	34,11854	1853	4091	5944	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100110C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2208C>T	2.37:g.168100110C>T						XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F561F|XIRP2_uc010fpq.3_Silent_p.F514F|XIRP2_uc010fpr.3_Intron	p.F736F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2297	+			561					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2208C>T	CCDS42769.1																																																																																				0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100110	C	T	168100110	2	4	281	1	0	0	0	0	0	0	0	1	17427	883	31	2		2	XIRP2	2	168100110	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	937765	168100110	75099263	10	20085											
LRP2	4036	broad.mit.edu	37	chr2	170145548	170145548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaccaacacaggtacGgctgtcattgtggttgatga	10	12	10	9	1	2	2	2	2	0	0	2	2	2	2	1	3	3	3	1	3	3	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:170145548G>A	ENST00000263816.3	-	9	1315	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	LRP2_ENST00000443831.1_Missense_Mutation_p.R344C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	344	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACACAGGTACGGCTGTCATTG	0.522																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1030-1032)Cgt>Tgt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						108	109	109					2																	170145548		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170145548G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1030C>T	2.37:g.170145548G>A	ENSP00000263816:p.Arg344Cys					LRP2_uc010zdf.1_Missense_Mutation_p.R344C	p.R344C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	8	1243	-			344			EGF-like 1.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1030C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538426	0.65085	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.87887	-2.31;-2.31	5.06	4.17	0.49024	Epidermal growth factor-like (1);Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.113685	0.64402	D	0.000010	D	0.92848	0.7725	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.61592	0.891;0.891	D	0.93300	0.6676	9	.	.	.	.	14.8135	0.70013	0.0:0.0:0.8546:0.1453	.	344;344	E9PC35;P98164	.;LRP2_HUMAN	C	344	ENSP00000263816:R344C;ENSP00000409813:R344C	.	R	-	1	0	LRP2	169853794	1.000000	0.71417	0.009000	0.14445	0.528000	0.34623	5.856000	0.69518	1.107000	0.41642	0.655000	0.94253	CGT		0.522	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170145548	G	A	170145548	3	1	281	1	0	0	0	0	1	0	0	0	8956	1116	39	2	13221	2	LRP2	2	170145548	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	2045438	170145548	73053825	11	20086											
TTN	7273	broad.mit.edu	37	chr2	179498195	179498195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtcacacacatattcGcctttatctttaaggtccgc	10	12	5	14	2	2	0	1	0	1	0	4	0	3	0	3	1	0	0	3	1	3	6	rs550471556		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:179498195G>A	ENST00000591111.1	-	182	38192	c.37968C>T	c.(37966-37968)ggC>ggT	p.G12656G	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G5424G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.G5232G|TTN_ENST00000359218.5_Silent_p.G5357G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.G14297G|TTN_ENST00000342992.6_Silent_p.G11729G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 84.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATATTCGCCTTTATCTT	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		19984	0		0	False		,,,				2504	0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35185-35187)ggC>ggT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							113	105	108					2																	179498195		1892	4117	6009	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498195G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37968C>T	2.37:g.179498195G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	p.G11729G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		180	35412	-			12656			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35187C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179498195	G	A	179498195	2	1	281	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179498195	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	9352647	179498195	63701178	12	20087											
MPP4	58538	broad.mit.edu	37	chr2	202545627	202545627	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgagatttttcgggccTgccaccagagggcatcattc	7	11	12	11	1	2	2	1	1	1	2	4	3	2	2	3	3	1	1	3	3	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:202545627T>G	ENST00000409474.3	-	10	1070	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	MPP4_ENST00000447335.2_Missense_Mutation_p.Q288P|MPP4_ENST00000359962.5_Missense_Mutation_p.Q288P|MPP4_ENST00000315506.7_Missense_Mutation_p.Q275P|MPP4_ENST00000409143.1_Missense_Mutation_p.Q261P|MPP4_ENST00000396886.3_Missense_Mutation_p.Q244P|MPP4_ENST00000428900.2_Missense_Mutation_p.Q288P	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	288	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						TTTTCGGGCCTGCCACCAGAG	0.582											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyk.4																			0				kidney(1)|lung(11)	12						c.(862-864)cAg>cCg		Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.							66	67	66					2																	202545627		2020	4161	6181	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202545627T>G	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.863A>C	2.37:g.202545627T>G	ENSP00000387278:p.Gln288Pro		OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2130	MPP4_uc010ftj.3_Missense_Mutation_p.Q288P|MPP4_uc010zhq.2_Missense_Mutation_p.Q288P|MPP4_uc010zht.2_Missense_Mutation_p.Q261P|MPP4_uc010zhr.2_Missense_Mutation_p.Q288P|MPP4_uc010zhs.2_Missense_Mutation_p.Q244P|MPP4_uc002uyj.4_Missense_Mutation_p.Q244P|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.3_Missense_Mutation_p.Q244P	p.Q288P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			9	1071	-			288			SH3.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.863A>C	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652742	0.88056	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.45	5.45	0.79879	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.74527	0.3728	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.992;1.0;0.996;0.992;0.986;0.997;0.994;0.996;0.997;0.996	T	0.80690	-0.1270	10	0.87932	D	0	.	15.6777	0.77341	0.0:0.0:0.0:1.0	.	261;244;288;288;275;288;244;301;288;244	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	P	288;275;244;288;244;217;288;261;288	ENSP00000387278:Q288P;ENSP00000319363:Q275P;ENSP00000353047:Q288P;ENSP00000416781:Q288P;ENSP00000387293:Q261P;ENSP00000406160:Q288P	ENSP00000319363:Q275P	Q	-	2	0	MPP4	202253872	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.396000	0.79891	2.289000	0.77006	0.528000	0.53228	CAG		0.582	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			G	202545627	T	G	202545627	3	3	281	1	0	0	0	0	1	0	0	0	9736	1580	55	5	1102	5	MPP4	2	202545627	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	23047432	202545627	40653746	13	20088											
PAX3	5077	broad.mit.edu	37	chr2	223066892	223066892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtaccccaccgtggttGgtcaggagtcccattaccta	8	10	11	12	1	1	1	1	1	0	0	2	2	2	2	5	4	2	2	5	4	3	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:223066892G>A	ENST00000350526.4	-	8	1327	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	PAX3_ENST00000392069.2_Silent_p.T397T|PAX3_ENST00000409551.3_Silent_p.T396T|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Silent_p.T397T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	397					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGTTGGTCAGGAGTC	0.537			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1189-1191)acC>acT		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							46	47	46					2																	223066892		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066892G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1191C>T	2.37:g.223066892G>A						PAX3_uc002vmt.2_Silent_p.T397T|PAX3_uc002vmy.2_Silent_p.T396T|PAX3_uc002vmv.2_Silent_p.T397T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	p.T397T	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1572	-		Renal(207;0.0183)	397					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.1191C>T	CCDS42826.1																																																																																				0.537	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			A	223066892	G	A	223066892	2	1	281	1	0	0	0	0	0	0	0	1	11480	1335	47	3		3	PAX3	2	223066892	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	20521265	223066892	20132481	14	20089											
CRELD1	78987	broad.mit.edu	37	chr3	9976243	9976243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccagtcttctcccccgCctcagccccatccgtgtcat	4	10	5	22	2	4	0	2	0	2	0	7	0	6	0	8	0	1	0	8	0	0	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:9976243C>A	ENST00000383811.3	+	1	720	c.121C>A	c.(121-123)Cct>Act	p.P41T	CRELD1_ENST00000452070.1_Missense_Mutation_p.P41T|CRELD1_ENST00000397170.3_Missense_Mutation_p.P41T|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000326434.5_Missense_Mutation_p.P41T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	41	Pro-rich.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TTCTCCCCCGCCTCAGCCCCA	0.617																																						uc003buf.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(121-123)Cct>Act		Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.							53	43	46					3																	9976243		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9976243C>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.121C>A	3.37:g.9976243C>A	ENSP00000373322:p.Pro41Thr					CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.P41T|CRELD1_uc003bug.3_Missense_Mutation_p.P41T	p.P41T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN			1	220	+			41			Pro-rich.		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.121C>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401380	0.01165	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.61274	0.25;0.25;0.25;0.12	4.34	-4.91	0.03085	.	1.014940	0.07897	N	0.972082	T	0.16811	0.0404	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.21449	-1.0245	10	0.09338	T	0.73	.	0.4174	0.00451	0.316:0.1765:0.2856:0.2219	.	41;41	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	41	ENSP00000380355:P41T;ENSP00000373322:P41T;ENSP00000393643:P41T;ENSP00000321856:P41T	ENSP00000321856:P41T	P	+	1	0	CRELD1	9951243	0.000000	0.05858	0.001000	0.08648	0.382000	0.30200	-0.478000	0.06575	-0.612000	0.05701	-0.258000	0.10820	CCT		0.617	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		A	9976243	C	A	9976243	3	1	281	1	0	0	0	0	1	0	0	0	3866	739	26	5	123	5	CRELD1	3	9976243	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		9976243	188046187	15	20090											
STXBP5L	9515	broad.mit.edu	37	chr3	120976169	120976169	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaacaaaggacagtatTccatgcctcaagtaagagtt	15	9	10	7	0	1	1	1	0	0	1	2	3	2	3	2	2	2	4	2	2	5	5	rs189716908	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:120976169T>G	ENST00000273666.6	+	17	2092	c.1821T>G	c.(1819-1821)atT>atG	p.I607M	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I607M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I607M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I607M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I607M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	607					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGACAGTATTCCATGCCTCA	0.368																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1819-1821)atT>atG		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							91	87	88					3																	120976169		1832	4080	5912	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976169T>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1821T>G	3.37:g.120976169T>G	ENSP00000273666:p.Ile607Met					STXBP5L_uc011bji.2_Missense_Mutation_p.I607M	p.I607M	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	16	1961	+			607					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1821T>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672039	0.29693	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36520	1.94;1.93;1.73;1.25;1.74;1.95	5.33	-0.0703	0.13748	WD40 repeat-like-containing domain (1);	0.053957	0.64402	D	0.000001	T	0.41026	0.1141	L	0.53249	1.67	0.53005	D	0.999968	D;D	0.55800	0.973;0.973	P;P	0.54629	0.757;0.757	T	0.12116	-1.0560	10	0.34782	T	0.22	-22.541	9.5712	0.39429	0.0:0.6135:0.0:0.3865	.	607;607	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	M	607	ENSP00000273666:I607M;ENSP00000420019:I607M;ENSP00000419627:I607M;ENSP00000420287:I607M;ENSP00000420666:I607M;ENSP00000420167:I607M	ENSP00000273666:I607M	I	+	3	3	STXBP5L	122458859	0.997000	0.39634	0.993000	0.49108	0.951000	0.60555	0.401000	0.20948	-0.253000	0.09514	-1.333000	0.01266	ATT		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			G	120976169	T	G	120976169	3	3	281	1	0	0	0	0	1	0	0	0	15356	1771	62	5	1883	5	STXBP5L	3	120976169	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	110999926	120976169	77046261	16	20091											
TP63	8626	broad.mit.edu	37	chr3	189456442	189456442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgttaggcctatatgttCagttcagcccattgacttga	9	15	9	8	0	2	2	2	2	0	0	2	2	2	2	2	1	1	3	2	1	3	7			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:189456442C>T	ENST00000264731.3	+	3	292	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TP63_ENST00000392460.3_Missense_Mutation_p.S68L|TP63_ENST00000440651.2_Missense_Mutation_p.S68L|TP63_ENST00000320472.5_Missense_Mutation_p.S68L|TP63_ENST00000382063.4_Missense_Mutation_p.S68L|TP63_ENST00000418709.2_Missense_Mutation_p.S68L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	68	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTATATGTTCAGTTCAGCCC	0.408										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(202-204)tCa>tTa		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							141	123	129					3																	189456442		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189456442C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.203C>T	3.37:g.189456442C>T	ENSP00000264731:p.Ser68Leu	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.S68L|TP63_uc003frz.2_Missense_Mutation_p.S68L|TP63_uc010hzc.1_Missense_Mutation_p.S68L	p.S68L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	2	292	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		68			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.203C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186529	0.57909	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99865	-6.03;-6.31;-6.28;-6.28;-6.04;-7.29	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.99495	0.9820	N	0.14661	0.345	0.80722	D	1	P;B;P;P	0.48350	0.826;0.02;0.909;0.826	B;B;P;B	0.60789	0.39;0.015;0.879;0.39	D	0.98821	1.0747	9	.	.	.	-9.0882	18.5385	0.91019	0.0:1.0:0.0:0.0	.	68;68;68;68	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	L	68	ENSP00000264731:S68L;ENSP00000407144:S68L;ENSP00000317510:S68L;ENSP00000376253:S68L;ENSP00000394337:S68L;ENSP00000371495:S68L	.	S	+	2	0	TP63	190939136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.753000	0.68736	2.619000	0.88677	0.561000	0.74099	TCA		0.408	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189456442	C	T	189456442	3	4	281	1	0	0	0	0	1	0	0	0	16389	838	29	3	213	3	TP63	3	189456442	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	68480273	189456442	8565988	17	20092											
ANAPC4	29945	broad.mit.edu	37	chr4	25416009	25416009	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatagagataccagaaggTaattctgtttacctattgga	13	14	9	5	0	1	2	0	0	1	2	1	4	1	3	2	2	2	3	2	2	7	9			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:25416009T>C	ENST00000315368.3	+	23	1827		c.e23+2		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACCAGAAGGTAATTCTGTTT	0.299																																						uc003gro.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.e23+2		Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.							70	70	70					4																	25416009		2202	4297	6499	SO:0001630	splice_region_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25416009T>C	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1685+2T>C	4.37:g.25416009T>C						ANAPC4_uc003grp.3_Splice_Site_p.S448_splice|ANAPC4_uc003grq.3_Splice_Site_p.S15_splice	p.S562_splice	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			23	1814	+		Breast(46;0.0503)	562					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37	c.1685_splice	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126237	0.56721	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.67	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4893	0.55891	0.0:0.0:0.1399:0.8601	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	25025107	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.753000	0.62183	1.066000	0.40716	0.477000	0.44152	.		0.299	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron	C	25416009	T	C	25416009	5	2	281	1	0	0	0	0	0	0	1	0	604	1652	57	4	1773	4	ANAPC4	4	25416009	Splice_Site	SNP	T	TCGA-81-5910-01A-11D-1696-08		25416009	165738267	18	20093											
NIPAL1	152519	broad.mit.edu	37	chr4	48027184	48027184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgctctacacggaccTgaattacagcataaacaact	13	10	6	12	1	1	1	0	1	1	0	2	2	2	2	2	1	6	2	2	1	6	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:48027184T>C	ENST00000295461.5	+	2	212	c.146T>C	c.(145-147)cTg>cCg	p.L49P	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	49						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACACGGACCTGAATTACAGC	0.438																																						uc003gxw.3																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(145-147)cTg>cCg		Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.							134	124	128					4																	48027184		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48027184T>C	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.146T>C	4.37:g.48027184T>C	ENSP00000295461:p.Leu49Pro						p.L49P	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			1	212	+			49					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.146T>C	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	T	9.776	1.173913	0.21704	.	.	ENSG00000163293	ENST00000295461;ENST00000511123	D;T	0.90563	-2.69;-1.14	4.26	-1.41	0.08941	.	1.018980	0.07856	N	0.965460	T	0.75817	0.3901	N	0.08118	0	0.46416	D	0.999032	B	0.02656	0.0	B	0.01281	0.0	T	0.63065	-0.6720	10	0.30078	T	0.28	-6.7801	2.1667	0.03839	0.1253:0.3734:0.1906:0.3107	.	49	Q6NVV3	NIPA3_HUMAN	P	49;14	ENSP00000295461:L49P;ENSP00000422276:L14P	ENSP00000295461:L49P	L	+	2	0	NIPAL1	47721941	0.004000	0.15560	0.972000	0.41901	0.929000	0.56500	-0.126000	0.10563	-0.010000	0.14271	0.482000	0.46254	CTG		0.438	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		C	48027184	T	C	48027184	3	2	281	1	0	0	0	0	1	0	0	0	10424	1580	55	4	152	4	NIPAL1	4	48027184	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	22611175	48027184	143127092	19	20094											
KDR	3791	broad.mit.edu	37	chr4	55946311	55946311	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgccacagactccctgcTtttgctgggcaccattccac	8	10	8	15	0	0	2	0	0	0	2	2	2	2	2	4	1	3	3	4	1	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:55946311T>G	ENST00000263923.4	-	30	4163	c.3868A>C	c.(3868-3870)Agc>Cgc	p.S1290R	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1290					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACTCCCTGCTTTTGCTGGGC	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3868-3870)Agc>Cgc		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						104	102	102					4																	55946311		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946311T>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3868A>C	4.37:g.55946311T>G	ENSP00000263923:p.Ser1290Arg	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S1290R	p.S1290R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		29	4170	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1290					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3868A>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846243	0.71603	.	.	ENSG00000128052	ENST00000263923	T	0.77229	-1.08	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88178	0.2869	10	0.72032	D	0.01	.	15.8235	0.78678	0.0:0.0:0.0:1.0	.	1290	P35968	VGFR2_HUMAN	R	1290	ENSP00000263923:S1290R	ENSP00000263923:S1290R	S	-	1	0	KDR	55641068	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	7.698000	0.84413	2.149000	0.67028	0.528000	0.53228	AGC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			G	55946311	T	G	55946311	3	3	281	1	0	0	0	0	1	0	0	0	8139	1609	56	5	206	5	KDR	4	55946311	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	7919127	55946311	135207965	20	20095											
CARD6	84674	broad.mit.edu	37	chr5	40853460	40853460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcctctggagaaaacatgGctgggacagctgaaggtgag	11	9	14	7	0	1	3	0	2	1	1	2	5	2	4	1	4	2	2	1	4	3	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr5:40853460G>A	ENST00000254691.5	+	3	2225	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	676					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAAAACATGGCTGGGACAGC	0.493																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2026-2028)Gct>Act		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							72	80	77					5																	40853460		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853460G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2026G>A	5.37:g.40853460G>A	ENSP00000254691:p.Ala676Thr						p.A676T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	2101	+			676					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2026G>A	CCDS3935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.354831|3.354831	0.61293|0.61293	.|.	.|.	ENSG00000132357|ENSG00000132357	ENST00000254691|ENST00000509771	T|.	0.12984|.	2.63|.	3.78|3.78	0.882|0.882	0.19172|0.19172	.|.	0.288785|.	0.24896|.	N|.	0.034736|.	T|.	0.36608|.	0.0973|.	L|L	0.27053|0.27053	0.805|0.805	0.34068|0.34068	D|D	0.658081|0.658081	B|.	0.28900|.	0.227|.	B|.	0.27715|.	0.082|.	T|.	0.47724|.	-0.9095|.	10|.	0.26408|0.51188	T|T	0.33|0.08	-8.0271|-8.0271	6.3567|6.3567	0.21404|0.21404	0.4535:0.0:0.5465:0.0|0.4535:0.0:0.5465:0.0	.|.	676|.	Q9BX69|.	CARD6_HUMAN|.	T|X	676|467	ENSP00000254691:A676T|.	ENSP00000254691:A676T|ENSP00000439680:W467X	A|W	+|+	1|3	0|0	CARD6|CARD6	40889217|40889217	0.005000|0.005000	0.15991|0.15991	0.419000|0.419000	0.26584|0.26584	0.121000|0.121000	0.20230|0.20230	0.009000|0.009000	0.13219|0.13219	0.289000|0.289000	0.22422|0.22422	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.493	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40853460	G	A	40853460	3	1	281	1	0	0	0	0	1	0	0	0	2650	1203	42	3	2036	3	CARD6	5	40853460	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		40853460	140061800	21	20096											
TREM1	54210	broad.mit.edu	37	chr6	41254356	41254356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttacctgagacaaagAgcatccacagcagcccccag	12	7	8	14	0	1	2	0	1	1	2	2	3	2	2	4	0	4	2	4	0	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:41254356A>G	ENST00000244709.4	-	1	101	c.38T>C	c.(37-39)cTc>cCc	p.L13P	TREM1_ENST00000591620.1_Missense_Mutation_p.L13P|TREM1_ENST00000589614.1_Missense_Mutation_p.L13P|TREM1_ENST00000334475.6_Missense_Mutation_p.L13P	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	13					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGAGACAAAGAGCATCCACAG	0.587																																						uc003oqf.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(37-39)cTc>cCc		Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	Glutathione(DB00143)						99	93	95					6																	41254356		2203	4300	6503	SO:0001583	missense	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41254356A>G	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.38T>C	6.37:g.41254356A>G	ENSP00000244709:p.Leu13Pro					TREM1_uc003oqg.2_Missense_Mutation_p.L13P|TREM1_uc021yzj.1_Missense_Mutation_p.L13P	p.L13P	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			0	102	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		13					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	c.38T>C	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461214	0.26248	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.21734	2.42;1.99	3.73	2.57	0.30868	.	1.209870	0.06258	N	0.693344	T	0.14227	0.0344	L	0.32530	0.975	0.09310	N	1	D;P	0.55385	0.971;0.952	P;P	0.56960	0.81;0.525	T	0.23261	-1.0193	10	0.87932	D	0	-3.1058	5.8362	0.18609	0.8804:0.0:0.1196:0.0	.	13;13	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	P	13	ENSP00000244709:L13P;ENSP00000334284:L13P	ENSP00000244709:L13P	L	-	2	0	TREM1	41362334	0.014000	0.17966	0.001000	0.08648	0.322000	0.28314	1.645000	0.37238	0.807000	0.34208	0.533000	0.62120	CTC		0.587	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		G	41254356	A	G	41254356	3	3	281	1	0	0	0	0	1	0	0	0	16467	304	11	4	682	4	TREM1	6	41254356	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08		41254356	129860711	22	20097											
BVES	11149	broad.mit.edu	37	chr6	105577294	105577294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatacgacagatgcaaaatgTtgacacccaagaacacagag	18	5	9	9	1	0	4	0	1	0	3	0	6	0	4	1	0	3	2	1	0	5	2	rs574287099		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:105577294T>C	ENST00000314641.5	-	3	527	c.311A>G	c.(310-312)aAc>aGc	p.N104S	BVES_ENST00000336775.5_Missense_Mutation_p.N104S|BVES_ENST00000446408.2_Missense_Mutation_p.N104S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	104					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGCAAAATGTTGACACCCAA	0.363													T|||	1	0.000199681	0	0	5008	,	,		17066	0		0	False		,,,				2504	0.001					uc003pqw.3																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(310-312)aAc>aGc		Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.							88	80	83					6																	105577294		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105577294T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.311A>G	6.37:g.105577294T>C	ENSP00000313172:p.Asn104Ser					BVES_uc003pqx.3_Missense_Mutation_p.N104S|BVES_uc003pqy.3_Missense_Mutation_p.N104S	p.N104S	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			2	468	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	104					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.311A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353426	0.82243	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.21734	1.99;1.99;1.99	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.47394	-0.9121	10	0.59425	D	0.04	-28.5046	15.3986	0.74818	0.0:0.0:0.0:1.0	.	104	Q8NE79	POPD1_HUMAN	S	104	ENSP00000313172:N104S;ENSP00000337259:N104S;ENSP00000397310:N104S	ENSP00000313172:N104S	N	-	2	0	BVES	105683987	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.661000	0.83786	2.041000	0.60428	0.477000	0.44152	AAC		0.363	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		C	105577294	T	C	105577294	3	2	281	1	0	0	0	0	1	0	0	0	1575	1725	60	4	795	4	BVES	6	105577294	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	64322938	105577294	65537773	23	20098											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181	144	157					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.R252C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1000	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221710	C	T	55221710	3	4	281	1	0	0	0	0	1	0	0	0	4967	652	23	2	780	2	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		55221710	103916953	24	20099											
MCM7	4176	broad.mit.edu	37	chr7	99691889	99691889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcgcctcatctccacGtatgctgctgtgatgtagtc	5	13	9	14	2	3	1	1	1	2	0	6	1	3	1	3	0	2	4	3	0	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:99691889G>A	ENST00000303887.5	-	13	2400	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	MCM7_ENST00000354230.3_Silent_p.Y409Y|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	585	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCATCTCCACGTATGCTGCTG	0.577																																						uc003usw.1																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1753-1755)taC>taT		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						93	90	91					7																	99691889		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99691889G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1755C>T	7.37:g.99691889G>A						MCM7_uc003usv.1_Silent_p.Y409Y|MCM7_uc003usx.1_Silent_p.Y409Y|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	p.Y585Y	NM_005916	NP_005907	P33993	MCM7_HUMAN			12	2265	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		585			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.1755C>T	CCDS5683.1																																																																																				0.577	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			A	99691889	G	A	99691889	2	1	281	1	0	0	0	0	0	0	0	1	9392	1140	40	1		1	MCM7	7	99691889	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	44470179	99691889	59446774	25	20100											
FBXL13	222235	broad.mit.edu	37	chr7	102669857	102669857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcttttatcatcaattcCggagtcatctaaagtaaata	14	13	6	8	1	4	0	3	0	1	0	5	1	5	1	1	2	0	2	1	2	7	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:102669857C>T	ENST00000313221.4	-	3	435	c.9G>A	c.(7-9)ccG>ccA	p.P3P	RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000393772.2_Silent_p.P3P|FBXL13_ENST00000436908.1_Silent_p.P3P|FBXL13_ENST00000379308.3_Silent_p.P3P|FBXL13_ENST00000379306.3_Silent_p.P3P|FBXL13_ENST00000379305.3_Silent_p.P3P|FBXL13_ENST00000455112.2_Silent_p.P3P|FBXL13_ENST00000456695.1_Silent_p.P3P|FBXL13_ENST00000471074.1_5'UTR	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	3										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATCAATTCCGGAGTCATCT	0.294																																						uc003vaq.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(7-9)ccG>ccA		Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.							20	21	20					7																	102669857		2194	4284	6478	SO:0001819	synonymous_variant	222235							g.chr7:102669857C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.9G>A	7.37:g.102669857C>T						FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_Non-coding_Transcript	p.P3P	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			2	436	-			3					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	c.9G>A	CCDS5726.1																																																																																				0.294	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		T	102669857	C	T	102669857	2	4	281	1	0	0	0	0	0	0	0	1	5709	639	23	2		2	FBXL13	7	102669857	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	2977968	102669857	56468806	26	20101											
RELN	5649	broad.mit.edu	37	chr7	103234169	103234169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtttcagggtcaaatctCgagttactgcaaatcgatct	11	12	9	9	2	4	0	2	0	2	0	6	2	4	0	0	2	2	3	0	2	3	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:103234169C>T	ENST00000428762.1	-	27	4031	c.3872G>A	c.(3871-3873)cGa>cAa	p.R1291Q	RELN_ENST00000343529.5_Missense_Mutation_p.R1291Q|RELN_ENST00000424685.2_Missense_Mutation_p.R1291Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1291					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCAAATCTCGAGTTACTGC	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3871-3873)cGa>cAa		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							169	158	162					7																	103234169		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234169C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3872G>A	7.37:g.103234169C>T	ENSP00000392423:p.Arg1291Gln					RELN_uc022ajq.1_Missense_Mutation_p.R1291Q|RELN_uc010liz.3_Missense_Mutation_p.R1291Q	p.R1291Q	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	4032	-			1291					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3872G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828727	0.90955	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26223	1.75;1.75;1.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.41710	1.295	0.58432	D	0.999992	D;D	0.71674	0.998;0.998	P;D	0.66602	0.823;0.945	T	0.01635	-1.1307	10	0.27082	T	0.32	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1291;1291	P78509-2;P78509	.;RELN_HUMAN	Q	1291	ENSP00000392423:R1291Q;ENSP00000345694:R1291Q;ENSP00000388446:R1291Q	ENSP00000345694:R1291Q	R	-	2	0	RELN	103021405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.885000	0.99019	0.655000	0.94253	CGA		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103234169	C	T	103234169	3	4	281	1	0	0	0	0	1	0	0	0	13220	884	31	2	6666	2	RELN	7	103234169	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	564312	103234169	55904494	27	20102											
NOBOX	135935	broad.mit.edu	37	chr7	144098554	144098554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccagagactgctggCggcttcttctctcctgagat	5	13	10	13	1	3	2	0	1	3	2	6	4	4	2	2	2	1	3	2	2	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:144098554C>T	ENST00000467773.1	-	4	428	c.429G>A	c.(427-429)ccG>ccA	p.P143P	NOBOX_ENST00000223140.5_Silent_p.P58P|NOBOX_ENST00000483238.1_Silent_p.P143P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	143					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P143P(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGACTGCTGGCGGCTTCTTCT	0.652																																						uc022aoj.1																			2	Substitution - coding silent(2)	p.P143P(3)	endometrium(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(427-429)ccG>ccA		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							23	26	25					7																	144098554		1879	4095	5974	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098554C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.429G>A	7.37:g.144098554C>T							p.P143P	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	429	-	Melanoma(164;0.14)		143					A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.429G>A																																																																																					0.652	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144098554	C	T	144098554	2	4	281	1	0	0	0	0	0	0	0	1	10512	755	27	1		1	NOBOX	7	144098554	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	40864385	144098554	15040109	28	20103											
C9orf66	157983	broad.mit.edu	37	chr9	215042	215042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaacaggtaagacgccccCcgcggcgcgcaggttgcggc	8	4	14	15	6	1	1	1	0	0	1	1	1	1	1	3	4	2	3	3	4	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:215042C>A	ENST00000382387.2	-	1	851	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	119										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAGACGCCCCCCGCGGCGCGC	0.731																																						uc003zge.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(355-357)Ggg>Tgg		Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.							4	5	4					9																	215042		1510	3373	4883	SO:0001583	missense	157983							g.chr9:215042C>A	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.355G>T	9.37:g.215042C>A	ENSP00000371824:p.Gly119Trp					DOCK8_uc011lls.1_Intron|DOCK8_uc003zgf.2_Intron	p.G119W	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	0	852	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	119					Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	c.355G>T	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	C	0.602	-0.828629	0.02734	.	.	ENSG00000183784	ENST00000382387	T	0.22336	1.96	2.78	0.802	0.18686	.	.	.	.	.	T	0.20210	0.0486	N	0.08118	0	0.09310	N	0.999992	D	0.71674	0.998	D	0.74348	0.983	T	0.12344	-1.0551	9	0.87932	D	0	.	3.7843	0.08694	0.0:0.5909:0.2554:0.1538	.	119	Q5T8R8	CI066_HUMAN	W	119	ENSP00000371824:G119W	ENSP00000371824:G119W	G	-	1	0	C9orf66	205042	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	-0.328000	0.07945	-0.032000	0.13758	-0.379000	0.06801	GGG		0.731	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		A	215042	C	A	215042	3	1	281	1	0	0	0	0	1	0	0	0	2490	623	22	5	536	5	C9orf66	9	215042	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		215042	140998389	29	20104											
FREM1	158326	broad.mit.edu	37	chr9	14848723	14848723	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggagatgtggactgTcataggtgcactcctttcaa	9	13	11	8	0	3	2	2	1	1	1	4	4	4	3	1	3	1	1	1	3	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:14848723T>A	ENST00000380880.3	-	7	1984	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.T401S|FREM1_ENST00000380881.4_Missense_Mutation_p.T402S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	401					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGGACTGTCATAGGTGCA	0.448																																						uc003zlm.3																			0		p.P400P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1201-1203)Aca>Tca		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							140	126	130					9																	14848723		1931	4147	6078	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848723T>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1201A>T	9.37:g.14848723T>A	ENSP00000370262:p.Thr401Ser					FREM1_uc010mic.3_Non-coding_Transcript	p.T401S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	7	2017	-			401					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1201A>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610820	0.46527	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10960	2.82;2.82;2.82	5.7	2.07	0.26955	.	0.092093	0.85682	D	0.000000	T	0.08891	0.0220	L	0.51422	1.61	0.23988	N	0.996254	B	0.22800	0.075	B	0.22753	0.041	T	0.37384	-0.9708	10	0.19590	T	0.45	-0.6138	6.0562	0.19812	0.1214:0.133:0.0:0.7456	.	401	Q5H8C1	FREM1_HUMAN	S	402;401;401	ENSP00000370263:T402S;ENSP00000412940:T401S;ENSP00000370262:T401S	ENSP00000370257:T404S	T	-	1	0	FREM1	14838723	0.978000	0.34361	0.001000	0.08648	0.951000	0.60555	3.270000	0.51600	0.105000	0.17753	0.533000	0.62120	ACA		0.448	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14848723	T	A	14848723	3	1	281	1	0	0	0	0	1	0	0	0	6044	1667	58	5	5512	5	FREM1	9	14848723	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	14633681	14848723	126364708	30	20105											
OR13F1	138805	broad.mit.edu	37	chr9	107267210	107267210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttatgcatttatcctcGccagtatcctgagaatcagc	9	14	6	12	1	2	1	1	1	1	1	6	2	4	1	3	0	2	2	3	0	4	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:107267210G>A	ENST00000334726.2	+	1	756	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTATCCTCGCCAGTATCCT	0.478																																						uc011lvm.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(667-669)Gcc>Acc		Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.							244	219	228					9																	107267210		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267210G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.667G>A	9.37:g.107267210G>A	ENSP00000334452:p.Ala223Thr						p.A223T	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			0	667	+			223					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.667G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	1.768	-0.485210	0.04352	.	.	ENSG00000186881	ENST00000334726	T	0.37411	1.2	4.3	-5.32	0.02722	GPCR, rhodopsin-like superfamily (1);	0.559658	0.16128	N	0.228301	T	0.17874	0.0429	L	0.27975	0.815	0.09310	N	1	B	0.15930	0.015	B	0.18263	0.021	T	0.19844	-1.0293	10	0.20519	T	0.43	.	7.3182	0.26513	0.3469:0.0:0.4637:0.1894	.	223	Q8NGS4	O13F1_HUMAN	T	223	ENSP00000334452:A223T	ENSP00000334452:A223T	A	+	1	0	OR13F1	106307031	0.000000	0.05858	0.741000	0.31004	0.004000	0.04260	-1.679000	0.01940	-1.012000	0.03387	-2.522000	0.00184	GCC		0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			A	107267210	G	A	107267210	3	1	281	1	0	0	0	0	1	0	0	0	10941	1087	38	1	669	1	OR13F1	9	107267210	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	92418487	107267210	33946221	31	20106											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgaactgcttgccgttgtgCcatgtaaaggagtcacccgc	8	10	12	11	2	1	1	1	1	0	0	1	2	1	2	3	1	4	3	3	1	3	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532																																						uc004bqr.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1228-1230)tgG>tgA		Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.							205	198	200					9																	129854001		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854001C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1230G>A	9.37:g.129854001C>T	ENSP00000362524:p.Trp410*					RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.W108*	p.W410*	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN			3	1730	-			410			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1230G>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	42	9.799516	0.99267	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	.	.	.	X	410;108	.	ENSP00000362516:W108X	W	-	3	0	ANGPTL2	128893822	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.855000	0.62925	2.574000	0.86865	0.655000	0.94253	TGG		0.532	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		T	129854001	C	T	129854001	4	4	281	1	0	0	0	0	0	1	0	0	614	740	26	3	259	3	ANGPTL2	9	129854001	Nonsense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	22586791	129854001	11359430	32	20107											
SETX	23064	broad.mit.edu	37	chr9	135202099	135202099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaatcgactgtatccccTttgacttattttttagagac	11	16	5	9	1	1	2	1	1	0	1	3	4	2	2	2	0	0	1	2	0	5	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135202099T>C	ENST00000224140.5	-	10	5068	c.4886A>G	c.(4885-4887)aAg>aGg	p.K1629R	SETX_ENST00000393220.1_Missense_Mutation_p.K1629R|SETX_ENST00000372169.2_Missense_Mutation_p.K1629R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1629					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTATCCCCTTTGACTTATT	0.398																																						uc004cbk.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(4885-4887)aAg>aGg		Homo sapiens senataxin (SETX), mRNA.							118	111	114					9																	135202099		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202099T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4886A>G	9.37:g.135202099T>C	ENSP00000224140:p.Lys1629Arg					SETX_uc004cbj.3_Missense_Mutation_p.K1248R|SETX_uc010mzt.3_Missense_Mutation_p.K1248R	p.K1629R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	9	5069	-		Myeloproliferative disorder(178;0.204)	1629					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.4886A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	4.527	0.097750	0.08681	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86432	-2.03;-2.12;-1.73	4.72	-1.89	0.07689	.	.	.	.	.	T	0.70098	0.3185	N	0.08118	0	0.09310	N	1	B;B;B	0.26708	0.157;0.009;0.016	B;B;B	0.24155	0.051;0.007;0.015	T	0.56044	-0.8044	9	0.38643	T	0.18	.	6.664	0.23031	0.0:0.4095:0.2576:0.3329	.	1629;1629;1629	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	R	1629	ENSP00000224140:K1629R;ENSP00000361242:K1629R;ENSP00000376913:K1629R	ENSP00000224140:K1629R	K	-	2	0	SETX	134191920	0.003000	0.15002	0.016000	0.15963	0.172000	0.22775	-0.167000	0.09940	-0.685000	0.05177	-0.250000	0.11733	AAG		0.398	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		C	135202099	T	C	135202099	3	2	281	1	0	0	0	0	1	0	0	0	14141	1609	56	4	3215	4	SETX	9	135202099	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	5348098	135202099	6011332	33	20108											
RALGDS	5900	broad.mit.edu	37	chr9	135975714	135975714	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggctcctcctcctccaggTtgtgtttgtccatggccttg	2	14	10	15	1	0	0	0	0	0	0	5	0	5	0	7	3	0	3	7	3	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135975714T>C	ENST00000372050.3	-	17	2531	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	RALGDS_ENST00000372047.3_Missense_Mutation_p.N825S|RALGDS_ENST00000393157.3_Missense_Mutation_p.N836S|RALGDS_ENST00000393160.3_Missense_Mutation_p.N782S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.N808S|RALGDS_ENST00000542690.1_Missense_Mutation_p.N908S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	837	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTCCTCCAGGTTGTGTTTGTC	0.592			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2509-2511)aAc>aGc		Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.							208	201	203					9																	135975714		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135975714T>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2510A>G	9.37:g.135975714T>C	ENSP00000361120:p.Asn837Ser					RALGDS_uc004ccn.3_Missense_Mutation_p.N25S|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.N825S|RALGDS_uc004ccr.3_Missense_Mutation_p.N836S|RALGDS_uc011mcv.2_Missense_Mutation_p.N808S|RALGDS_uc004ccs.3_Missense_Mutation_p.N782S|RALGDS_uc011mcw.2_Missense_Mutation_p.N908S|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	p.N837S	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2530	-			837			Ras-associating.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2510A>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936517	0.52972	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.15	2.82	0.32997	Ras-association (3);	0.061936	0.64402	N	0.000010	T	0.28400	0.0702	M	0.67569	2.06	0.42515	D	0.992988	B;P;D;D;D;P	0.60575	0.001;0.931;0.988;0.967;0.967;0.876	B;B;P;P;P;P	0.55112	0.001;0.294;0.769;0.623;0.623;0.683	T	0.01930	-1.1245	10	0.87932	D	0	.	7.5812	0.27965	0.0:0.1784:0.0:0.8216	.	908;808;782;836;825;837	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	S	837;825;782;836;908;808	ENSP00000361120:N837S;ENSP00000361117:N825S;ENSP00000376867:N782S;ENSP00000376864:N836S;ENSP00000437518:N908S;ENSP00000361132:N808S	ENSP00000361117:N825S	N	-	2	0	RALGDS	134965535	1.000000	0.71417	0.887000	0.34795	0.196000	0.23810	4.728000	0.62000	0.304000	0.22809	0.260000	0.18958	AAC		0.592	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		C	135975714	T	C	135975714	3	2	281	1	0	0	0	0	1	0	0	0	13016	1725	60	4	242	4	RALGDS	9	135975714	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	773615	135975714	5237717	34	20109											
PTEN	5728	broad.mit.edu	37	chr10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagtaactattcccaGtcagaggcgctatgtgtatt	10	11	11	9	1	1	1	1	0	0	1	2	2	2	2	2	2	1	3	2	2	4	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		65	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(9)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)	central_nervous_system(18)|prostate(16)|skin(8)|endometrium(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(508-510)aGt>aAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							121	124	123					10																	89711891		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711891G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.509G>A	10.37:g.89711891G>A	ENSP00000361021:p.Ser170Asn	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.S170N	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1541	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	170		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.509G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140552	0.94560	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98342	1.0539	9	.	.	.	-3.8658	19.9308	0.97118	0.0:0.0:1.0:0.0	.	170	P60484	PTEN_HUMAN	N	170	ENSP00000361021:S170N	.	S	+	2	0	PTEN	89701871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89711891	G	A	89711891	3	1	281	1	0	0	0	0	1	0	0	0	12738	1029	36	3	531	3	PTEN	10	89711891	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		89711891	45822856	35	20110											
CELF1	10658	broad.mit.edu	37	chr11	47496959	47496959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtacagagtggggagcGcagcagcagcatattgctgg	9	8	17	7	1	0	1	0	0	0	1	0	2	0	2	0	4	6	7	0	4	2	4	rs565562546		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:47496959G>A	ENST00000358597.3	-	10	1117	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	CELF1_ENST00000532048.1_Missense_Mutation_p.A399V|CELF1_ENST00000361904.3_Missense_Mutation_p.A370V|CELF1_ENST00000531165.1_Missense_Mutation_p.A401V|CELF1_ENST00000395292.2_Missense_Mutation_p.A370V|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395290.2_Missense_Mutation_p.A372V|CELF1_ENST00000310513.5_Missense_Mutation_p.A369V			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	373					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGTGGGGAGCGCAGCAGCAGC	0.577													G|||	1	0.000199681	0	0	5008	,	,		18290	0		0	False		,,,				2504	0.001				Pancreas(163;1949 1966 9906 43218 43785)	uc001nfp.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(1201-1203)gCg>gTg		Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.							82	76	78					11																	47496959		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47496959G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1118C>T	11.37:g.47496959G>A	ENSP00000351409:p.Ala373Val					CELF1_uc001nfl.3_Missense_Mutation_p.A373V|CELF1_uc010rhm.2_Missense_Mutation_p.A372V|CELF1_uc001nfm.3_Missense_Mutation_p.A370V|CELF1_uc001nfk.2_Missense_Mutation_p.A399V|CELF1_uc001nfn.3_Missense_Mutation_p.A369V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	p.A401V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			12	1604	-			373			RRM 3.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1202C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422976	0.96111	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.4	5.4	0.78164	.	0.160430	0.43260	D	0.000588	T	0.80243	0.4587	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.999;0.969;0.969;0.999;0.947	D;D;P;P;D;P	0.71184	0.972;0.972;0.741;0.654;0.972;0.452	T	0.75671	-0.3237	10	0.20519	T	0.43	-7.0415	19.1801	0.93620	0.0:0.0:1.0:0.0	.	372;401;399;369;370;373	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	V	372;373;370;369;370;401;399	ENSP00000378705:A372V;ENSP00000351409:A373V;ENSP00000378706:A370V;ENSP00000308386:A369V;ENSP00000354639:A370V;ENSP00000436864:A401V;ENSP00000435926:A399V	ENSP00000308386:A369V	A	-	2	0	CELF1	47453535	1.000000	0.71417	0.158000	0.22627	0.946000	0.59487	9.869000	0.99810	2.537000	0.85549	0.557000	0.71058	GCG		0.577	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		A	47496959	G	A	47496959	3	1	281	1	0	0	0	0	1	0	0	0	3215	1087	38	1	354	1	CELF1	11	47496959	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		47496959	87509557	36	20111											
ANO1	55107	broad.mit.edu	37	chr11	70009414	70009414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacgcccgggcgactacGtgtacattttccgttccttc	5	13	10	13	5	0	0	0	0	0	0	3	2	2	1	3	2	2	2	3	2	2	7	rs370304912	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:70009414G>A	ENST00000355303.5	+	19	2223	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M	ANO1_ENST00000538023.1_Missense_Mutation_p.V640M|ANO1_ENST00000531349.1_Missense_Mutation_p.V349M|ANO1_ENST00000530676.1_Missense_Mutation_p.V494M|ANO1_ENST00000398543.2_Missense_Mutation_p.V494M|ANO1_ENST00000316296.5_Missense_Mutation_p.V582M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	640					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGGCGACTACGTGTACATTTT	0.527																																						uc001opj.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1918-1920)Gtg>Atg		Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.							65	68	67					11																	70009414		1947	4126	6073	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009414G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1918G>A	11.37:g.70009414G>A	ENSP00000347454:p.Val640Met					ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc010rqk.2_Missense_Mutation_p.V349M	p.V640M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			18	2223	+			640					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1918G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916688	0.52546	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.72167	-0.22;-0.31;-0.63;0.12;-0.63;-0.34	5.08	5.08	0.68730	.	0.219103	0.39341	N	0.001390	T	0.76955	0.4060	L	0.50333	1.59	0.32922	D	0.515987	D;D;D	0.64830	0.986;0.994;0.987	P;P;P	0.61003	0.882;0.763;0.593	T	0.81129	-0.1073	9	.	.	.	.	13.8074	0.63240	0.0:0.0:0.8469:0.1531	.	349;582;640	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	M	640;640;494;398;582;494;349	ENSP00000347454:V640M;ENSP00000444689:V640M;ENSP00000381551:V494M;ENSP00000319477:V582M;ENSP00000435797:V494M;ENSP00000432843:V349M	.	V	+	1	0	ANO1	69687062	0.982000	0.34865	1.000000	0.80357	0.543000	0.35085	1.822000	0.39052	2.535000	0.85469	0.655000	0.94253	GTG		0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		A	70009414	G	A	70009414	3	1	281	1	0	0	0	0	1	0	0	0	695	1145	40	1	1992	1	ANO1	11	70009414	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	22512455	70009414	64997102	37	20112											
NFRKB	4798	broad.mit.edu	37	chr11	129762715	129762715	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaccaagttccagaggAtctgtcagcatatggtctaa	12	9	10	10	1	3	1	1	0	2	1	4	3	4	3	2	3	1	2	2	3	3	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:129762715A>C	ENST00000446488.3	-	2	133	c.30T>G	c.(28-30)gaT>gaG	p.D10E	NFRKB_ENST00000304521.5_Missense_Mutation_p.D10E|NFRKB_ENST00000526940.1_Missense_Mutation_p.D10E|NFRKB_ENST00000524746.1_Missense_Mutation_p.D10E|NFRKB_ENST00000524794.1_Missense_Mutation_p.D23E	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	10					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCCAGAGGATCTGTCAGCA	0.522																																						uc001qfg.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(67-69)gaT>gaG		Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.							201	167	178					11																	129762715		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129762715A>C		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.30T>G	11.37:g.129762715A>C	ENSP00000400476:p.Asp10Glu					NFRKB_uc001qfi.3_Missense_Mutation_p.D10E|NFRKB_uc001qfh.3_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	p.D23E	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	0	190	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	10					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.69T>G	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007354	0.54361	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.24	-1.46	0.08800	.	0.051707	0.64402	D	0.000001	T	0.38799	0.1054	L	0.31294	0.92	0.38390	D	0.945386	B;B;P;P	0.40970	0.384;0.107;0.734;0.518	B;B;B;B	0.39503	0.113;0.048;0.301;0.225	T	0.42799	-0.9430	9	0.87932	D	0	-11.6159	13.4803	0.61332	0.3652:0.0:0.6348:0.0	.	10;10;10;23	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	E	10;10;23;10;10;10;10;10;10;10	.	ENSP00000303800:D10E	D	-	3	2	NFRKB	129267925	0.710000	0.27896	0.995000	0.50966	0.992000	0.81027	-0.101000	0.10973	-0.277000	0.09193	0.477000	0.44152	GAT		0.522	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		C	129762715	A	C	129762715	3	2	281	1	0	0	0	0	1	0	0	0	10384	330	12	5	4005	5	NFRKB	11	129762715	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08	59753301	129762715	5243801	38	20113											
CACNA1C	775	broad.mit.edu	37	chr12	2602399	2602399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccttgtgcgctggaaacGggccacgggcggcagtgcca	6	6	15	14	4	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	1	1	rs553958501		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:2602399G>A	ENST00000347598.4	+	7	960	c.960G>A	c.(958-960)acG>acA	p.T320T	CACNA1C_ENST00000399603.1_Silent_p.T320T|CACNA1C_ENST00000399617.1_Silent_p.T320T|CACNA1C_ENST00000399644.1_Silent_p.T320T|CACNA1C_ENST00000399638.1_Silent_p.T320T|CACNA1C_ENST00000399591.1_Silent_p.T320T|CACNA1C_ENST00000399601.1_Silent_p.T320T|CACNA1C_ENST00000402845.3_Silent_p.T320T|CACNA1C_ENST00000480911.1_Silent_p.T320T|CACNA1C_ENST00000399629.1_Silent_p.T320T|CACNA1C_ENST00000344100.3_Silent_p.T320T|CACNA1C_ENST00000399655.1_Silent_p.T320T|CACNA1C_ENST00000399637.1_Silent_p.T320T|CACNA1C_ENST00000399595.1_Silent_p.T320T|CACNA1C_ENST00000399597.1_Silent_p.T320T|CACNA1C_ENST00000399606.1_Silent_p.T320T|CACNA1C_ENST00000406454.3_Silent_p.T320T|CACNA1C_ENST00000399621.1_Silent_p.T320T|CACNA1C_ENST00000399649.1_Silent_p.T320T|CACNA1C_ENST00000399634.1_Silent_p.T320T|CACNA1C_ENST00000335762.5_Silent_p.T320T|CACNA1C_ENST00000399641.1_Silent_p.T320T|CACNA1C_ENST00000327702.7_Silent_p.T320T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	320					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTGGAAACGGGCCACGGGC	0.607													G|||	1	0.000199681	0	0	5008	,	,		19713	0		0	False		,,,				2504	0.001					uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(958-960)acG>acA		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						75	78	77					12																	2602399		2151	4265	6416	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602399G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.960G>A	12.37:g.2602399G>A						CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkj.2_Silent_p.T320T|CACNA1C_uc001qkk.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qkm.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T	p.T320T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	6	1273	+			320					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.960G>A	CCDS44788.1																																																																																				0.607	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2602399	G	A	2602399	2	1	281	1	0	0	0	0	0	0	0	1	2540	1103	39	2		2	CACNA1C	12	2602399	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		2602399	131249496	39	20114											
CCDC41	51134	broad.mit.edu	37	chr12	94761893	94761893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcagcttgtactttaCgtattaattcacgatccttt	8	18	6	9	2	1	0	1	0	0	0	2	1	2	0	1	1	3	4	1	1	4	9			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:94761893C>T	ENST00000397809.5	-	10	1682	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CCDC41_ENST00000397807.2_Missense_Mutation_p.R345H|CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000339839.5_Missense_Mutation_p.R378H	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		370					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333																																						uc001tdd.3																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1132-1134)cGt>cAt		Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.							115	102	106					12																	94761893		1844	4088	5932	SO:0001583	missense	51134							g.chr12:94761893C>T																												ENST00000397809.5:c.1133G>A	12.37:g.94761893C>T	ENSP00000380911:p.Arg378His					CCDC41_uc001tde.3_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_Non-coding_Transcript	p.R378H	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			9	1719	-			370					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1133G>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969685	0.92855	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.54071	0.65;0.65;0.59	6.07	6.07	0.98685	.	.	.	.	.	T	0.72020	0.3409	L	0.59436	1.845	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.91635	0.917;0.999	T	0.70938	-0.4736	9	0.66056	D	0.02	-7.1547	20.6593	0.99626	0.0:1.0:0.0:0.0	.	345;370	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	H	378;378;345	ENSP00000344655:R378H;ENSP00000380911:R378H;ENSP00000380909:R345H	ENSP00000344655:R378H	R	-	2	0	CCDC41	93286024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	CGT		0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			T	94761893	C	T	94761893	3	4	281	1	0	0	0	0	1	0	0	0	2813	536	19	1	1004	1	CCDC41	12	94761893	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	92159494	94761893	39090002	40	20115											
STAB2	55576	broad.mit.edu	37	chr12	104102273	104102273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttgggagatggctcctGtgactgtgatgttggctggc	5	12	15	9	0	0	3	0	2	0	1	1	4	1	3	2	4	0	3	2	4	0	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:104102273G>T	ENST00000388887.2	+	39	4451	c.4247G>T	c.(4246-4248)tGt>tTt	p.C1416F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATGGCTCCTGTGACTGTGAT	0.478																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4246-4248)tGt>tTt		Homo sapiens stabilin 2 (STAB2), mRNA.							239	213	222					12																	104102273		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104102273G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4247G>T	12.37:g.104102273G>T	ENSP00000373539:p.Cys1416Phe						p.C1416F	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			38	4433	+			1416						Missense_Mutation	SNP	ENST00000388887.2	37	c.4247G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244102	0.79912	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90385	-2.66	5.4	5.4	0.78164	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.119375	0.64402	D	0.000011	D	0.97651	0.9230	H	0.98883	4.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98988	1.0807	10	0.87932	D	0	.	19.5463	0.95299	0.0:0.0:1.0:0.0	.	1416	Q8WWQ8	STAB2_HUMAN	F	1416;103	ENSP00000373539:C1416F	ENSP00000258495:C103F	C	+	2	0	STAB2	102626403	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	8.551000	0.90678	2.679000	0.91253	0.655000	0.94253	TGT		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104102273	G	T	104102273	3	4	281	1	0	0	0	0	1	0	0	0	15237	1377	48	5	4401	5	STAB2	12	104102273	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	9340380	104102273	29749622	41	20116											
PCID2	55795	broad.mit.edu	37	chr13	113852564	113852564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgttgacacttctcCtctggagaggccatctgatt	9	13	9	10	0	3	4	0	2	3	2	4	5	3	4	2	2	0	1	2	2	1	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr13:113852564C>T	ENST00000337344.4	-	3	217	c.141G>A	c.(139-141)gaG>gaA	p.E47E	PCID2_ENST00000375477.1_Silent_p.E47E|PCID2_ENST00000375459.1_Silent_p.E45E|PCID2_ENST00000246505.5_Silent_p.E47E|PCID2_ENST00000375457.2_Silent_p.E45E|PCID2_ENST00000375479.2_Silent_p.E47E	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	47					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACACTTCTCCTCTGGAGAGG	0.358																																						uc021rmt.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(139-141)gaG>gaA		Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.							99	103	102					13																	113852564		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113852564C>T	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.141G>A	13.37:g.113852564C>T						PCID2_uc021rmq.1_Silent_p.E47E|PCID2_uc021rmr.1_Silent_p.E47E|PCID2_uc021rms.1_Silent_p.E47E|PCID2_uc001vtg.2_Non-coding_Transcript	p.E47E	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	222	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	47					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.141G>A	CCDS9532.2																																																																																				0.358	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		T	113852564	C	T	113852564	2	4	281	1	0	0	0	0	0	0	0	1	11579	680	24	3		3	PCID2	13	113852564	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08		113852564	1317314	42	20117											
LRFN5	145581	broad.mit.edu	37	chr14	42356780	42356780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggagaccctgagcctgcaAttcactggatttctcctgaa	9	10	11	11	0	2	3	1	2	1	1	3	5	2	4	3	3	2	1	3	3	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr14:42356780A>G	ENST00000298119.4	+	3	2141	c.952A>G	c.(952-954)Att>Gtt	p.I318V	LRFN5_ENST00000554120.1_Missense_Mutation_p.I318V|LRFN5_ENST00000554171.1_Missense_Mutation_p.I318V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	318	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTGCAATTCACTGGAT	0.463										HNSCC(30;0.082)																												uc001wvm.3																			0		p.A317A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(952-954)Att>Gtt		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							119	116	117					14																	42356780		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356780A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.952A>G	14.37:g.42356780A>G	ENSP00000298119:p.Ile318Val	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.I318V	p.I318V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2150	+			318			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.952A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	7.628	0.678188	0.14841	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.60424	0.19;0.19;0.19	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.45736	0.1357	N	0.13003	0.285	0.50467	D	0.999873	B;B	0.23806	0.078;0.091	B;B	0.36666	0.048;0.23	T	0.39921	-0.9590	10	0.22109	T	0.4	.	13.6708	0.62424	1.0:0.0:0.0:0.0	.	318;318	G3V364;Q96NI6	.;LRFN5_HUMAN	V	318	ENSP00000298119:I318V;ENSP00000451897:I318V;ENSP00000451067:I318V	ENSP00000298119:I318V	I	+	1	0	LRFN5	41426530	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.526000	0.81920	2.165000	0.68154	0.460000	0.39030	ATT		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356780	A	G	42356780	3	3	281	1	0	0	0	0	1	0	0	0	8941	101	4	4	954	4	LRFN5	14	42356780	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08		42356780	64992760	43	20118											
NDN	4692	broad.mit.edu	37	chr15	23931738	23931738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcagcacgttccagacGgcgctctctctggcgccgcg	5	7	13	16	7	2	1	0	0	2	1	4	1	3	1	2	2	2	4	2	2	0	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr15:23931738G>A	ENST00000331837.4	-	1	712	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	209	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTTCCAGACGGCGCTCTCTC	0.632									Prader-Willi syndrome																													uc001ywk.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(625-627)gcC>gcT		Homo sapiens necdin homolog (mouse) (NDN), mRNA.							27	27	27					15																	23931738		2200	4296	6496	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931738G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.627C>T	15.37:g.23931738G>A							p.A209A	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	0	713	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	209			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.627C>T	CCDS10014.1																																																																																				0.632	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23931738	G	A	23931738	2	1	281	1	0	0	0	0	0	0	0	1	10247	1103	39	2		2	NDN	15	23931738	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		23931738	78599654	44	20119											
ACSM1	116285	broad.mit.edu	37	chr16	20651783	20651783	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtttgcaccacctacCgtttccgactgcccatagtt	6	14	7	14	2	1	0	0	0	1	0	2	1	2	0	5	1	3	4	5	1	2	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:20651783C>T	ENST00000307493.4	-	7	1183	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	ACSM1_ENST00000520010.1_Splice_Site_p.T372T|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	372					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						caCCACCTACCGTTTCCGACT	0.483																																						uc002dhm.1																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.e7+1		Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.							116	88	97					16																	20651783		2201	4300	6501	SO:0001630	splice_region_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20651783C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1116+1G>A	16.37:g.20651783C>T						ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.T372_splice	p.T372_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			7	1184	-			372					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.1116_splice	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313088	0.10789	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.46	2.49	0.30216	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47433	-0.9118	4	.	.	.	.	6.9509	0.24544	0.0:0.7884:0.0:0.2116	.	.	.	.	Q	78	.	.	R	-	2	0	ACSM1	20559284	0.998000	0.40836	1.000000	0.80357	0.237000	0.25408	0.132000	0.15891	0.615000	0.30124	-0.346000	0.07831	CGG		0.483	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	Silent	T	20651783	C	T	20651783	5	4	281	1	0	0	0	0	0	0	1	0	182	666	23	2	645	2	ACSM1	16	20651783	Splice_Site	SNP	C	TCGA-81-5910-01A-11D-1696-08		20651783	69702970	45	20120											
SCNN1B	6338	broad.mit.edu	37	chr16	23387159	23387159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatactgcaacaaccGggacttcccagactggggtg	12	6	13	10	1	0	2	0	0	0	2	1	4	1	3	2	4	4	1	2	4	4	2	rs201649568		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:23387159G>A	ENST00000343070.2	+	8	1429	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	SCNN1B_ENST00000568085.1_Missense_Mutation_p.R382Q|SCNN1B_ENST00000307331.5_Missense_Mutation_p.R463Q|SCNN1B_ENST00000568923.1_Missense_Mutation_p.R391Q	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	418					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCAACAACCGGGACTTCCCA	0.612													c|||	1	0.000199681	8e-04	0	5008	,	,		19104	0		0	False		,,,				2504	0					uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1252-1254)cGg>cAg		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)		GLN/ARG	2,4392	4.2+/-10.8	0,2,2195	98	89	92		1253	-2	0	16		92	0,8600		0,0,4300	yes	missense	SCNN1B	NM_000336.2	43	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	benign	418/641	23387159	2,12992	2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23387159G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1253G>A	16.37:g.23387159G>A	ENSP00000345751:p.Arg418Gln						p.R418Q	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	7	1429	+			418					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1253G>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	g	0.029	-1.347617	0.01266	4.55E-4	0.0	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.63096	-0.02;-0.02	4.65	-1.98	0.07480	.	1.148870	0.06453	N	0.728097	T	0.31199	0.0789	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25117	-1.0141	10	0.07482	T	0.82	-24.6478	9.5244	0.39156	0.6011:0.0:0.3989:0.0	.	418	P51168	SCNNB_HUMAN	Q	418;463	ENSP00000345751:R418Q;ENSP00000302874:R463Q	ENSP00000302874:R463Q	R	+	2	0	SCNN1B	23294660	0.572000	0.26668	0.027000	0.17364	0.161000	0.22273	0.714000	0.25808	-0.629000	0.05575	-0.144000	0.13903	CGG		0.612	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23387159	G	A	23387159	3	1	281	1	0	0	0	0	1	0	0	0	13928	1116	39	2	1279	2	SCNN1B	16	23387159	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	2735376	23387159	66967594	46	20121											
PKD1L2	114780	broad.mit.edu	37	chr16	81181775	81181775	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggtgtcagaaggccGtcctccatgggctgtgggga	6	8	16	11	1	2	1	2	0	0	1	4	2	4	2	4	5	0	1	4	5	1	0			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:81181775G>A	ENST00000525539.1	-	0	4940				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGAAGGCCGTCCTCCATGG	0.642																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(4939-4941)gaC>gaT		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							28	30	30					16																	81181775		1926	4129	6055			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181775G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181775G>A						PKD1L2_uc002fgg.1_Non-coding_Transcript	p.D1647D	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			28	4941	-			1647					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.4941C>T																																																																																					0.642	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81181775	G	A	81181775	1	1	281	0	1	0	0	0	0	0	0	0	11965	1136	40	1		1	PKD1L2	16	81181775	RNA	SNP	G	TCGA-81-5910-01A-11D-1696-08	57794616	81181775	9172978	47	20122											
MTHFSD	64779	broad.mit.edu	37	chr16	86585659	86585659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaccagcagccgaaCgccttccagtggtttatcag	9	8	10	14	2	1	0	1	0	0	0	2	1	2	0	4	1	5	4	4	1	2	3	rs369108681		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:86585659C>T	ENST00000360900.6	-	3	242	c.217G>A	c.(217-219)Gtt>Att	p.V73I	MTHFSD_ENST00000568037.1_Intron|MTHFSD_ENST00000543303.2_Intron|MTHFSD_ENST00000381214.5_Intron|MTHFSD_ENST00000546093.1_Intron|MTHFSD_ENST00000322911.6_Missense_Mutation_p.V72I	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	73							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCAGCCGAACGCCTTCCAGT	0.537													C|||	1	0.000199681	0	0	5008	,	,		17611	0.001		0	False		,,,				2504	0					uc002fjn.3																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(217-219)Gtt>Att		Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.		C	ILE/VAL,,,ILE/VAL,ILE/VAL	1,3921		0,1,1960	169	179	176		217,,,157,214	5	0	16		176	0,8278		0,0,4139	no	missense,intron,intron,missense,missense	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	29,,,29,29	0,1,6099	TT,TC,CC		0.0,0.0255,0.0082	,,,,	73/384,,,53/364,72/383	86585659	1,12199	1961	4139	6100	SO:0001583	missense	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86585659C>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.217G>A	16.37:g.86585659C>T	ENSP00000354152:p.Val73Ile					MTHFSD_uc002fjm.3_Missense_Mutation_p.V72I|MTHFSD_uc010voo.2_Missense_Mutation_p.V53I|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Intron|MTHFSD_uc010vor.2_Intron|MTHFSD_uc002fjo.3_Intron|MTHFSD_uc002fjp.2_Missense_Mutation_p.V53I	p.V73I	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			2	268	-			73					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.217G>A	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384648	0.61845	2.55E-4	0.0	ENSG00000103248	ENST00000543303;ENST00000360900;ENST00000322911	T;T	0.38887	1.11;1.11	5.93	4.99	0.66335	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.437350	0.26407	N	0.024544	T	0.45955	0.1368	M	0.74647	2.275	0.09310	N	0.999999	B;B	0.18968	0.032;0.026	B;B	0.18561	0.022;0.013	T	0.43491	-0.9388	10	0.51188	T	0.08	-4.2219	14.3818	0.66916	0.0:0.9291:0.0:0.0708	.	73;72	Q2M296;Q2M296-2	MTHSD_HUMAN;.	I	71;73;72	ENSP00000354152:V73I;ENSP00000326777:V72I	ENSP00000326777:V72I	V	-	1	0	MTHFSD	85143160	0.944000	0.32072	0.004000	0.12327	0.994000	0.84299	2.822000	0.48073	1.513000	0.48852	0.655000	0.94253	GTT		0.537	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		T	86585659	C	T	86585659	3	4	281	1	0	0	0	0	1	0	0	0	9933	536	19	1	958	1	MTHFSD	16	86585659	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	5403884	86585659	3769094	48	20123											
GLP2R	9340	broad.mit.edu	37	chr17	9783793	9783793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgaaggatttgcaaaacTtatacgacttttcattcagt	13	15	7	6	1	2	1	2	1	0	0	2	3	2	2	0	1	3	2	0	1	5	7			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:9783793T>G	ENST00000262441.5	+	11	1757	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R	GLP2R_ENST00000574745.1_Missense_Mutation_p.L235R	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	415					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TTTGCAAAACTTATACGACTT	0.393																																						uc002gmd.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1243-1245)cTt>cGt		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)						184	166	172					17																	9783793		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9783793T>G	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1244T>G	17.37:g.9783793T>G	ENSP00000262441:p.Leu415Arg						p.L415R	NM_004246	NP_004237	O95838	GLP2R_HUMAN			10	1244	+			415					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1244T>G	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552467	0.27739	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.37915	1.17	6.03	-12.0	0.00017	GPCR, family 2-like (1);	1.041330	0.07691	N	0.938814	T	0.23133	0.0559	L	0.42529	1.33	0.09310	N	1	B	0.17465	0.022	B	0.27076	0.076	T	0.18681	-1.0329	10	0.24483	T	0.36	.	9.2071	0.37296	0.6227:0.0:0.2389:0.1385	.	415	O95838	GLP2R_HUMAN	R	415	ENSP00000262441:L415R	ENSP00000262441:L415R	L	+	2	0	GLP2R	9724518	0.001000	0.12720	0.000000	0.03702	0.737000	0.42083	-0.217000	0.09253	-1.636000	0.01533	0.454000	0.30748	CTT		0.393	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			G	9783793	T	G	9783793	3	3	281	1	0	0	0	0	1	0	0	0	6453	1609	56	5	1286	5	GLP2R	17	9783793	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08		9783793	71411417	49	20124											
PRKCA	5578	broad.mit.edu	37	chr17	64299034	64299034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccaaccgcttcgcccGcaaaggggcgctgaggcaga	8	4	15	14	5	0	2	0	1	0	1	1	2	0	2	3	4	1	4	3	4	2	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:64299034G>A	ENST00000413366.3	+	1	91	c.65G>A	c.(64-66)cGc>cAc	p.R22H	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	22					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGGGCG	0.642																																						uc002jfo.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38								Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						75	63	67					17																	64299034		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64299034G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.65G>A	17.37:g.64299034G>A	ENSP00000408695:p.Arg22His					PRKCA_uc002jfp.1_Missense_Mutation_p.R22H				P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		0		+								B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37		CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911740	0.92178	.	.	ENSG00000154229	ENST00000413366	D	0.88124	-2.34	3.14	3.14	0.36123	.	0.000000	0.53938	U	0.000047	D	0.92893	0.7739	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93792	0.7093	10	0.87932	D	0	.	13.802	0.63206	0.0:0.0:1.0:0.0	.	22	P17252	KPCA_HUMAN	H	22	ENSP00000408695:R22H	ENSP00000408695:R22H	R	+	2	0	PRKCA	61729496	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	8.417000	0.90247	1.316000	0.45131	0.205000	0.17691	CGC		0.642	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			A	64299034	G	A	64299034	3	1	281	1	0	0	0	0	1	0	0	0	12507	1087	38	1	67	1	PRKCA	17	64299034	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	54515241	64299034	16896176	50	20125											
LAMA1	284217	broad.mit.edu	37	chr18	6956725	6956725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagcaggtgtccaggtcGacttgctcatggccaactgc	8	8	12	13	1	1	0	1	0	0	0	3	1	2	0	3	3	5	2	3	3	1	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:6956725G>A	ENST00000389658.3	-	56	8097	c.8004C>T	c.(8002-8004)gtC>gtT	p.V2668V	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2668	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTCCAGGTCGACTTGCTCAT	0.512																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8002-8004)gtC>gtT		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72	72	72					18																	6956725		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956725G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8004C>T	18.37:g.6956725G>A						LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.V121V|LAMA1_uc010wzj.2_Silent_p.V2144V	p.V2668V	NM_005559	NP_005550	P25391	LAMA1_HUMAN			55	8098	-		Colorectal(10;0.172)	2668			Laminin G-like 3.			Silent	SNP	ENST00000389658.3	37	c.8004C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246653	0.22796	.	.	ENSG00000101680	ENST00000344342	.	.	.	5.48	-1.19	0.09585	.	.	.	.	.	T	0.45013	0.1321	.	.	.	0.34964	D	0.752431	.	.	.	.	.	.	T	0.53121	-0.8483	5	0.59425	D	0.04	.	0.5147	0.00601	0.1977:0.2876:0.2279:0.2867	.	.	.	.	L	120	.	ENSP00000341000:S120L	S	-	2	0	LAMA1	6946725	0.005000	0.15991	0.107000	0.21349	0.773000	0.43773	-1.523000	0.02235	-0.330000	0.08514	-0.165000	0.13383	TCG		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6956725	G	A	6956725	2	1	281	1	0	0	0	0	0	0	0	1	8605	1045	37	2		2	LAMA1	18	6956725	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		6956725	71120523	51	20126											
SETBP1	26040	broad.mit.edu	37	chr18	42532158	42532158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcaaaaccgcgatgacctCcagtttctggcagacctgga	10	8	10	13	2	1	2	0	1	1	1	2	4	2	3	4	2	2	3	4	2	2	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:42532158C>T	ENST00000282030.5	+	4	3149	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	951						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGATGACCTCCAGTTTCTGG	0.502									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2851-2853)ctC>ctT		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							67	66	66					18																	42532158		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532158C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2853C>T	18.37:g.42532158C>T							p.L951L	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	3	3149	+			951					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.2853C>T	CCDS11923.2																																																																																				0.502	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42532158	C	T	42532158	2	4	281	1	0	0	0	0	0	0	0	1	14129	842	30	3		3	SETBP1	18	42532158	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	35575433	42532158	35545090	52	20127											
FBN3	84467	broad.mit.edu	37	chr19	8130913	8130913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcaccacctccagccGgtaggttccaggccccggcc	5	6	12	18	2	1	0	1	0	0	0	3	0	3	0	8	5	1	3	8	5	1	2	rs200422303	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:8130913G>A	ENST00000600128.1	-	64	8734	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W	FBN3_ENST00000270509.2_Missense_Mutation_p.R2774W|FBN3_ENST00000601739.1_Missense_Mutation_p.R2774W			Q75N90	FBN3_HUMAN	fibrillin 3	2774						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCTCCAGCCGGTAGGTTCCA	0.677													G|||	3	0.000599042	0	0	5008	,	,		15901	0.002		0	False		,,,				2504	0.001					uc002mjf.3																			0		p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8320-8322)Cgg>Tgg		Homo sapiens fibrillin 3 (FBN3), mRNA.							38	41	40					19																	8130913		2202	4298	6500	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130913G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8320C>T	19.37:g.8130913G>A	ENSP00000470498:p.Arg2774Trp					FBN3_uc002mje.3_Missense_Mutation_p.R570W	p.R2774W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			62	8337	-			2774					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8320C>T	CCDS12196.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.398	1.077347	0.20227	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87491	-2.26	4.55	2.12	0.27331	.	0.739374	0.12731	N	0.443827	T	0.79947	0.4534	L	0.39898	1.24	0.29576	N	0.849547	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.71879	-0.4459	10	0.72032	D	0.01	.	5.8113	0.18467	0.1784:0.0:0.6735:0.148	.	2774;837	Q75N90;Q6ZNB8	FBN3_HUMAN;.	W	2774;837	ENSP00000270509:R2774W	ENSP00000270509:R2774W	R	-	1	2	FBN3	8036913	0.003000	0.15002	0.989000	0.46669	0.108000	0.19459	-0.071000	0.11505	0.351000	0.24027	-0.126000	0.14955	CGG		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8130913	G	A	8130913	3	1	281	1	0	0	0	0	1	0	0	0	5704	1115	39	2	113	2	FBN3	19	8130913	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		8130913	50998070	53	20128											
ZNF536	9745	broad.mit.edu	37	chr19	30934790	30934790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgcagcagttcctcaaCgggcagaacctgggcatcat	10	8	11	12	1	2	1	2	0	0	1	3	2	3	1	2	2	4	5	2	2	2	2	rs144245375		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:30934790C>T	ENST00000355537.3	+	2	468	c.321C>T	c.(319-321)aaC>aaT	p.N107N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	107					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCTCAACGGGCAGAACC	0.652																																						uc002nsu.1																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(319-321)aaC>aaT		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	50	41	44		321	-2.1	1	19	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		107/1301	30934790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934790C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.321C>T	19.37:g.30934790C>T						ZNF536_uc010edd.1_Silent_p.N107N	p.N107N	NM_014717	NP_055532	O15090	ZN536_HUMAN			1	459	+	Esophageal squamous(110;0.0834)		107					A2RU18	Silent	SNP	ENST00000355537.3	37	c.321C>T	CCDS32984.1																																																																																				0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30934790	C	T	30934790	2	4	281	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	30934790	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	22803877	30934790	28194193	54	20129											
PDCD2L	84306	broad.mit.edu	37	chr19	34895691	34895691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgtgttcgcgtgcgcctgCcccggctgtagcaccggcgg	3	7	15	16	7	0	0	0	0	0	0	1	0	0	0	4	3	3	4	4	3	1	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:34895691C>T	ENST00000246535.3	+	2	293	c.246C>T	c.(244-246)tgC>tgT	p.C82C	RP11-618P17.4_ENST00000606020.1_Silent_p.C77C|PDCD2L_ENST00000587065.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	82					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGCGCCTGCCCCGGCTGTA	0.721																																						uc002nvj.3																			0				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(244-246)tgC>tgT		Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.							11	11	11					19																	34895691		2195	4285	6480	SO:0001819	synonymous_variant	84306					cytoplasm		g.chr19:34895691C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.246C>T	19.37:g.34895691C>T							p.C82C	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		1	279	+	Esophageal squamous(110;0.162)		82						Silent	SNP	ENST00000246535.3	37	c.246C>T	CCDS12438.1																																																																																				0.721	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		T	34895691	C	T	34895691	2	4	281	1	0	0	0	0	0	0	0	1	11620	747	26	3		3	PDCD2L	19	34895691	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	3960901	34895691	24233292	55	20130											
RYR1	6261	broad.mit.edu	37	chr19	38990276	38990276	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatgcgggtggccaggCgagagcgtggaggagaacgc	8	4	18	11	4	0	2	0	0	0	2	1	5	1	3	3	5	3	0	3	5	1	0	rs138617219	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:38990276C>T	ENST00000359596.3	+	44	7029	c.7029C>T	c.(7027-7029)ggC>ggT	p.G2343G	RYR1_ENST00000355481.4_Splice_Site_p.G2343G|RYR1_ENST00000360985.3_Splice_Site_p.G2343G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2343	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGGCCAGGCGAGAGCGTGG	0.667													c|||	4	0.000798722	0	0	5008	,	,		14863	0		0	False		,,,				2504	0.0041					uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e44-1		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)	T	,	0,4406		0,0,2203	35	33	34		7029,7029	-7.7	0.9	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	RYR1	NM_000540.2,NM_001042723.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	2343/5039,2343/5034	38990276	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990276C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7028-1C>T	19.37:g.38990276C>T						RYR1_uc002oiu.3_Splice_Site_p.G2343_splice|RYR1_uc002oiv.1_Splice_Site	p.G2343_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7158	+	all_cancers(60;7.91e-06)		2343			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7028_splice	CCDS33011.1																																																																																				0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Silent	T	38990276	C	T	38990276	5	4	281	1	0	0	0	0	0	0	1	0	13768	782	27	1	7203	1	RYR1	19	38990276	Splice_Site	SNP	C	TCGA-81-5910-01A-11D-1696-08	4094585	38990276	20138707	56	20131											
NLRP12	91662	broad.mit.edu	37	chr19	54312898	54312898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcggtcttccccgtccGcgctgtaggtggcgccatac	3	9	13	16	7	1	0	0	0	1	0	4	0	3	0	4	3	1	2	4	3	2	3	rs376751517		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:54312898G>A	ENST00000324134.6	-	3	2183	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	NLRP12_ENST00000391772.1_Missense_Mutation_p.A672V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A672V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A672V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A672V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A672V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A672V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A672V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	672					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCGTCCGCGCTGTAGGT	0.622																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2014-2016)gCg>gTg		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							35	33	34					19																	54312898		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54312898G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2015C>T	19.37:g.54312898G>A	ENSP00000319377:p.Ala672Val					NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A672V|NLRP12_uc002qci.4_Missense_Mutation_p.A672V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A672V	p.A672V	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	2235	-	Ovarian(34;0.19)		672					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2015C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	5.217	0.225489	0.09916	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;D;D	0.88277	0.73;0.73;0.73;0.73;0.73;-2.36;-2.36	3.86	1.6	0.23607	.	1.295240	0.05811	N	0.614052	D	0.84611	0.5510	M	0.61703	1.905	0.09310	N	0.999999	B;B;B;B	0.28667	0.154;0.089;0.154;0.219	B;B;B;B	0.15870	0.006;0.004;0.006;0.014	T	0.66732	-0.5849	10	0.31617	T	0.26	.	4.679	0.12725	0.1187:0.0:0.6668:0.2145	.	672;672;672;672	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	672	ENSP00000319377:A672V;ENSP00000438030:A672V;ENSP00000340473:A672V;ENSP00000346231:A672V;ENSP00000375655:A672V;ENSP00000375653:A672V;ENSP00000375652:A672V	ENSP00000319377:A672V	A	-	2	0	NLRP12	59004710	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.381000	0.20619	0.219000	0.20840	0.485000	0.47835	GCG		0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54312898	G	A	54312898	3	1	281	1	0	0	0	0	1	0	0	0	10474	1087	38	1	1298	1	NLRP12	19	54312898	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	15322622	54312898	4816085	57	20132											
MYH9	4627	broad.mit.edu	37	chr22	36714329	36714329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggattcctctggtgaaatCggtcacattgatacccaaga	12	10	10	9	1	2	3	1	2	1	1	4	5	3	4	2	3	1	0	2	3	3	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:36714329C>T	ENST00000216181.5	-	11	1380	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	384	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTGAAATCGGTCACATTG	0.502			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1150-1152)Gat>Aat		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.							210	208	209					22																	36714329		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36714329C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1150G>A	22.37:g.36714329C>T	ENSP00000216181:p.Asp384Asn					MYH9_uc003aph.1_Missense_Mutation_p.D248N	p.D384N	NM_002473	NP_002464	P35579	MYH9_HUMAN			10	1381	-			384			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1150G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300054	0.81136	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87491	-2.26	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.048630	0.85682	D	0.000000	D	0.86879	0.6039	L	0.55990	1.75	0.80722	D	1	P	0.34615	0.459	B	0.38225	0.268	D	0.87929	0.2709	10	0.87932	D	0	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	384	P35579	MYH9_HUMAN	N	248;384	ENSP00000216181:D384N	ENSP00000216181:D384N	D	-	1	0	MYH9	35044275	1.000000	0.71417	0.952000	0.39060	0.993000	0.82548	7.776000	0.85560	2.475000	0.83589	0.650000	0.86243	GAT		0.502	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36714329	C	T	36714329	3	4	281	1	0	0	0	0	1	0	0	0	10042	884	31	2	4856	2	MYH9	22	36714329	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		36714329	14590237	58	20133											
CELSR1	9620	broad.mit.edu	37	chr22	46829324	46829324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcacagagtgccacCgcccgtcactcacaccactg	9	5	8	19	2	2	1	2	0	0	1	2	1	2	1	5	0	2	2	5	0	0	0	rs377640697		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:46829324C>T	ENST00000262738.3	-	5	4576	c.4577G>A	c.(4576-4578)cGg>cAg	p.R1526Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1526	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGTGCCACCGCCCGTCACT	0.647																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4576-4578)cGg>cAg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	68	57	61		4577	0.9	0.7	22		61	0,8600		0,0,4300	no	missense	CELSR1	NM_014246.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1526/3015	46829324	1,13005	2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46829324C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4577G>A	22.37:g.46829324C>T	ENSP00000262738:p.Arg1526Gln						p.R1526Q	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	4	4577	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1526			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4577G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	6.311	0.425440	0.11987	2.27E-4	0.0	ENSG00000075275	ENST00000262738	T	0.75704	-0.96	4.62	0.891	0.19224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.086903	0.47093	U	0.000257	T	0.39358	0.1075	N	0.02697	-0.525	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.38607	-0.9653	10	0.02654	T	1	.	5.6321	0.17516	0.0:0.4129:0.0:0.5871	.	1526	Q9NYQ6	CELR1_HUMAN	Q	1526	ENSP00000262738:R1526Q	ENSP00000262738:R1526Q	R	-	2	0	CELSR1	45207988	0.967000	0.33354	0.746000	0.31095	0.846000	0.48090	1.455000	0.35190	0.505000	0.28104	-0.137000	0.14449	CGG		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46829324	C	T	46829324	3	4	281	1	0	0	0	0	1	0	0	0	3221	652	23	2	4591	2	CELSR1	22	46829324	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	10114995	46829324	4475242	59	20134											
STAG2	10735	broad.mit.edu	37	chrX	123171416	123171416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatcatacaagcatgacCgagatatagcacttcttgac	15	10	7	9	1	2	4	1	2	1	2	2	5	2	4	1	0	3	2	1	0	6	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chrX:123171416C>T	ENST00000371160.1	+	6	618	c.328C>T	c.(328-330)Cga>Tga	p.R110*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.R110*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R110*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R110*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R110*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R41*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	110					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGCATGACCGAGATATAGC	0.323																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(328-330)Cga>Tga		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							187	156	166					X																	123171416		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123171416C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.328C>T	X.37:g.123171416C>T	ENSP00000360202:p.Arg110*					STAG2_uc004etz.4_Nonsense_Mutation_p.R110*|STAG2_uc004eub.3_Nonsense_Mutation_p.R110*|STAG2_uc004euc.3_Nonsense_Mutation_p.R110*|STAG2_uc004eud.3_Nonsense_Mutation_p.R110*|STAG2_uc004eue.3_Nonsense_Mutation_p.R110*	p.R110*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			5	732	+			110					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.328C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214213	0.79352	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	.	.	.	4.94	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0758	12.8811	0.58017	0.4856:0.5144:0.0:0.0	.	.	.	.	X	110;110;41;110;110;110;110;110;110;110;110	.	ENSP00000218089:R110X	R	+	1	2	STAG2	122999097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.021000	0.41020	0.990000	0.38787	0.544000	0.68410	CGA		0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123171416	C	T	123171416	4	4	281	1	0	0	0	0	0	1	0	0	15242	644	23	2	342	2	STAG2	23	123171416	Nonsense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		123171416	32099144	60	20135											
NOTCH2	4853	broad.mit.edu	37	chr1	120512286	120512286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacacagccatagcctccaTtgcggttggcacaggtgccc	9	8	10	14	1	0	0	0	0	0	0	1	0	1	0	4	3	5	2	4	3	2	4	rs144936899		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:120512286T>C	ENST00000256646.2	-	6	1175	c.956A>G	c.(955-957)aAt>aGt	p.N319S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	319	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGCCTCCATTGCGGTTGGC	0.532			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T|||	1	0.000199681	0	0	5008	,	,		22194	0.001		0	False		,,,				2504	0					uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(955-957)aAt>aGt		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.		T	SER/ASN,SER/ASN	0,4406		0,0,2203	143	106	118		956,956	5.7	1	1	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NOTCH2	NM_001200001.1,NM_024408.3	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	319/1236,319/2472	120512286	1,13005	2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512286T>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.956A>G	1.37:g.120512286T>C	ENSP00000256646:p.Asn319Ser					NOTCH2_uc001eil.3_Missense_Mutation_p.N319S|NOTCH2_uc021osy.1_Missense_Mutation_p.N280S|NOTCH2_uc001eim.4_Missense_Mutation_p.N236S	p.N319S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1253	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	319			EGF-like 8; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.956A>G	CCDS908.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	16.07	3.018331	0.54576	0.0	1.16E-4	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.86956	-2.19	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.40302	U	0.001126	D	0.82907	0.5139	N	0.26130	0.795	0.36644	D	0.877013	P;D;P	0.63880	0.951;0.993;0.625	P;P;B	0.60345	0.735;0.873;0.315	T	0.82222	-0.0564	10	0.22109	T	0.4	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	280;319;319	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	319;280	ENSP00000256646:N319S	ENSP00000256646:N319S	N	-	2	0	NOTCH2	120313809	0.984000	0.35163	0.997000	0.53966	0.990000	0.78478	2.503000	0.45407	2.186000	0.69663	0.533000	0.62120	AAT		0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120512286	T	C	120512286	3	2	282	1	0	0	0	0	1	0	0	0	10548	1493	52	4	6575	4	NOTCH2	1	120512286	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		120512286	128738335	1	20136											
TCHH	7062	broad.mit.edu	37	chr1	152081317	152081317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcggaattttctgtgaCgctcctggcgcagctgctgt	4	13	12	12	4	1	1	0	1	1	0	3	2	2	2	1	2	2	4	1	2	1	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:152081317C>T	ENST00000368804.1	-	2	4375	c.4376G>A	c.(4375-4377)cGt>cAt	p.R1459H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1459	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTGACGCTCCTGGCG	0.547																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4375-4377)cGt>cAt		Homo sapiens trichohyalin (TCHH), mRNA.							90	88	89					1																	152081317		1889	4114	6003	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081317C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4376G>A	1.37:g.152081317C>T	ENSP00000357794:p.Arg1459His					TCHH_uc001ezp.2_Missense_Mutation_p.R1459H	p.R1459H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4648	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1459			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4376G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	8.826	0.938841	0.18281	.	.	ENSG00000159450	ENST00000368804	T	0.05717	3.4	3.82	2.9	0.33743	.	.	.	.	.	T	0.02267	0.0070	M	0.69823	2.125	0.09310	N	1	P	0.45715	0.865	B	0.29716	0.106	T	0.41288	-0.9517	9	0.45353	T	0.12	.	7.3017	0.26424	0.0:0.8765:0.0:0.1235	.	1459	Q07283	TRHY_HUMAN	H	1459	ENSP00000357794:R1459H	ENSP00000357794:R1459H	R	-	2	0	TCHH	150347941	0.982000	0.34865	0.009000	0.14445	0.023000	0.10783	0.111000	0.15458	0.818000	0.34468	0.405000	0.27470	CGT		0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081317	C	T	152081317	3	4	282	1	0	0	0	0	1	0	0	0	15697	536	19	1	1459	1	TCHH	1	152081317	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	31569031	152081317	97169304	2	20137											
SOS1	6654	broad.mit.edu	37	chr2	39234297	39234297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataattcgactcaccacagCtactctttcttctaaatttt	12	16	2	11	1	4	0	1	0	3	0	5	1	4	0	1	0	2	1	1	0	5	8			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:39234297C>A	ENST00000426016.1	-	17	2634	c.2548G>T	c.(2548-2550)Gct>Tct	p.A850S	SOS1_ENST00000395038.2_Missense_Mutation_p.A850S|SOS1_ENST00000402219.2_Missense_Mutation_p.A850S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	850	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTCACCACAGCTACTCTTTCT	0.323									Noonan syndrome																													uc002rrk.4																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(2548-2550)Gct>Tct		Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.							124	130	128					2																	39234297		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234297C>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2548G>T	2.37:g.39234297C>A	ENSP00000387784:p.Ala850Ser					SOS1_uc002rrj.4_Missense_Mutation_p.A464S	p.A850S	NM_005633	NP_005624	Q07889	SOS1_HUMAN			15	2589	-		all_hematologic(82;0.21)	850			Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2548G>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351419	0.61183	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.29397	1.57;1.57;1.57	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.176855	0.49305	D	0.000155	T	0.31009	0.0783	L	0.37466	1.105	0.80722	D	1	B	0.12013	0.005	B	0.33799	0.17	T	0.08086	-1.0739	10	0.48119	T	0.1	.	13.4095	0.60933	0.0:0.9188:0.0:0.0812	.	850	Q07889	SOS1_HUMAN	S	850;850;582;850;850	ENSP00000387784:A850S;ENSP00000384675:A850S;ENSP00000378479:A850S	ENSP00000263879:A850S	A	-	1	0	SOS1	39087801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.773000	0.62331	2.660000	0.90430	0.603000	0.83216	GCT		0.323	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		A	39234297	C	A	39234297	3	1	282	1	0	0	0	0	1	0	0	0	14936	797	28	5	1485	5	SOS1	2	39234297	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		39234297	203965076	3	20138											
IL1RL2	8808	broad.mit.edu	37	chr2	102805705	102805705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctagaattcaccaggaCgagacttggattttgtttct	10	14	9	8	1	3	2	1	0	2	2	3	5	3	4	1	2	0	1	1	2	2	6			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:102805705C>T	ENST00000264257.2	+	3	354	c.228C>T	c.(226-228)gaC>gaT	p.D76D	IL1RL2_ENST00000539491.1_Silent_p.D76D|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	76	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTCACCAGGACGAGACTTGGA	0.398																																						uc002tbs.3																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(226-228)gaC>gaT		Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.							70	68	69					2																	102805705		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805705C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.228C>T	2.37:g.102805705C>T						IL1RL2_uc002tbt.3_Intron	p.D76D	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			2	354	+			76			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.228C>T	CCDS2056.1																																																																																				0.398	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		T	102805705	C	T	102805705	2	4	282	1	0	0	0	0	0	0	0	1	7664	535	19	1		1	IL1RL2	2	102805705	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	63571408	102805705	140393668	4	20139											
PLEKHM3	389072	broad.mit.edu	37	chr2	208842070	208842070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttagctgtagctgaGtgttgtcatacaaaacagta	11	13	9	8	0	1	1	1	1	0	0	1	1	1	1	1	0	5	5	1	0	6	6			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:208842070G>C	ENST00000427836.2	-	3	1340	c.851C>G	c.(850-852)aCt>aGt	p.T284S	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T284S|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T284S	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	284	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTAGCTGAGTGTTGTCATA	0.512																																						uc002vcl.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(850-852)aCt>aGt		Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.							125	123	124					2																	208842070		2049	4202	6251	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208842070G>C	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.851C>G	2.37:g.208842070G>C	ENSP00000417003:p.Thr284Ser					PLEKHM3_uc002vcm.2_Missense_Mutation_p.T284S	p.T284S	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	1341	-			284			PH 1.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.851C>G	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.242|6.242	0.412718|0.412718	0.11812|0.11812	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.96|5.96	5.09|5.09	0.68999|0.68999	.|Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.|0.380706	.|0.29239	.|N	.|0.012723	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11560|0.11560	0.145|0.145	0.24069|0.24069	N|N	0.995986|0.995986	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.0	T|T	0.12344|0.12344	-1.0551|-1.0551	5|10	.|0.14252	.|T	.|0.57	.|.	15.7252|15.7252	0.77751|0.77751	0.0:0.2579:0.742:0.0|0.0:0.2579:0.742:0.0	.|.	.|284;284	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	Q|S	35|284	.|ENSP00000417003:T284S;ENSP00000373899:T284S;ENSP00000400150:T284S	.|ENSP00000373899:T284S	H|T	-|-	3|2	2|0	PLEKHM3|PLEKHM3	208550315|208550315	1.000000|1.000000	0.71417|0.71417	0.870000|0.870000	0.34147|0.34147	0.670000|0.670000	0.39368|0.39368	4.283000|4.283000	0.58977|0.58977	1.541000|1.541000	0.49316|0.49316	-0.127000|-0.127000	0.14921|0.14921	CAC|ACT		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		C	208842070	G	C	208842070	3	2	282	1	0	0	0	0	1	0	0	0	12082	1029	36	5	1458	5	PLEKHM3	2	208842070	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	106036365	208842070	34357303	5	20140											
CNTN6	27255	broad.mit.edu	37	chr3	1424680	1424680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatatatcatcatgttcCggccagtgggctcgacaacc	9	11	10	11	2	2	0	2	0	0	0	4	2	3	1	3	3	1	2	3	3	3	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr3:1424680C>T	ENST00000446702.2	+	18	2848	c.2221C>T	c.(2221-2223)Cgg>Tgg	p.R741W	CNTN6_ENST00000350110.2_Missense_Mutation_p.R741W|CNTN6_ENST00000539053.1_Missense_Mutation_p.R669W			Q9UQ52	CNTN6_HUMAN	contactin 6	741	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATCATGTTCCGGCCAGTGGG	0.433																																						uc003boz.3																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2221-2223)Cgg>Tgg		Homo sapiens contactin 6 (CNTN6), mRNA.							122	114	117					3																	1424680		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424680C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2221C>T	3.37:g.1424680C>T	ENSP00000407822:p.Arg741Trp					CNTN6_uc011asj.2_Missense_Mutation_p.R669W|CNTN6_uc003bpa.3_Missense_Mutation_p.R741W	p.R741W	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2488	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	741			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2221C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681483	0.88542	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56941	0.43;0.43;0.43	6.08	6.08	0.98989	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	T	0.80303	0.4598	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83064	-0.0146	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	741	Q9UQ52	CNTN6_HUMAN	W	741;669;741	ENSP00000407822:R741W;ENSP00000442791:R669W;ENSP00000341882:R741W	ENSP00000341882:R741W	R	+	1	2	CNTN6	1399680	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.544000	0.53640	2.894000	0.99253	0.655000	0.94253	CGG		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		T	1424680	C	T	1424680	3	4	282	1	0	0	0	0	1	0	0	0	3645	643	23	2	2287	2	CNTN6	3	1424680	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		1424680	196597750	6	20141											
FRAS1	80144	broad.mit.edu	37	chr4	79400817	79400817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcattagtggtcccaaCgatgcctcgactgtgtccct	6	12	10	13	2	1	0	1	0	0	0	4	2	3	0	3	1	3	1	3	1	2	1	rs376748689		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:79400817C>T	ENST00000264895.6	+	56	8828	c.8388C>T	c.(8386-8388)aaC>aaT	p.N2796N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2792	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGTCCCAACGATGCCTCGA	0.532																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8386-8388)aaC>aaT		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		C		0,4178		0,0,2089	78	84	82		8388	-5	1	4		82	1,8423		0,1,4211	no	coding-synonymous	FRAS1	NM_025074.6		0,1,6300	TT,TC,CC		0.0119,0.0,0.0079		2796/4013	79400817	1,12601	2089	4212	6301	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400817C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8388C>T	4.37:g.79400817C>T							p.N2796N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			55	8828	+			2791			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8388C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253978	0.01457	0.0	1.19E-4	ENSG00000138759	ENST00000512123	.	.	.	5.72	-4.98	0.03019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0293	0.80567	0.0:0.5727:0.0:0.4273	.	.	.	.	X	1025	.	.	R	+	1	2	FRAS1	79619841	0.036000	0.19791	0.965000	0.40720	0.049000	0.14656	-0.695000	0.05109	-0.763000	0.04658	-0.824000	0.03097	CGA		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79400817	C	T	79400817	2	4	282	1	0	0	0	0	0	0	0	1	6042	535	19	1		1	FRAS1	4	79400817	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08		79400817	111753459	7	20142											
SLC10A6	345274	broad.mit.edu	37	chr4	87749309	87749309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggaggaccccaccaaCaacggccccaatctgaagca	15	2	9	15	1	1	2	0	1	1	1	1	4	1	4	5	3	3	1	5	3	5	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:87749309C>T	ENST00000273905.6	-	4	745	c.598G>A	c.(598-600)Gtt>Att	p.V200I	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	200					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACCCCACCAACAACGGCCCCA	0.443																																						uc003hqd.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(598-600)Gtt>Att		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.							65	67	66					4																	87749309		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87749309C>T	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.598G>A	4.37:g.87749309C>T	ENSP00000273905:p.Val200Ile						p.V200I	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	3	746	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	200					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.598G>A	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	7.237	0.600509	0.13939	.	.	ENSG00000145283	ENST00000273905	T	0.10288	2.89	5.28	2.63	0.31362	.	0.861271	0.10057	N	0.721369	T	0.04452	0.0122	N	0.04335	-0.225	0.09310	N	1	B	0.28178	0.202	B	0.30029	0.11	T	0.46803	-0.9165	10	0.11182	T	0.66	.	4.8138	0.13356	0.0:0.5924:0.1561:0.2515	.	200	Q3KNW5	SOAT_HUMAN	I	200	ENSP00000273905:V200I	ENSP00000273905:V200I	V	-	1	0	SLC10A6	87968333	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.538000	0.23160	0.363000	0.24346	0.655000	0.94253	GTT		0.443	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		T	87749309	C	T	87749309	3	4	282	1	0	0	0	0	1	0	0	0	14378	478	17	3	547	3	SLC10A6	4	87749309	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	8348492	87749309	103404967	8	20143											
RAMP3	10268	broad.mit.edu	37	chr7	45216936	45216936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagagcaggcggctgcaaCgagacaggcatgttggagag	11	4	16	10	2	0	3	0	0	0	3	0	5	0	3	1	4	3	5	1	4	1	1	rs145890722	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:45216936C>T	ENST00000242249.4	+	2	125	c.87C>T	c.(85-87)aaC>aaT	p.N29N	RAMP3_ENST00000496212.1_Silent_p.N29N|RAMP3_ENST00000481345.1_Silent_p.N29N	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	29					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCGGCTGCAACGAGACAGGCA	0.597													C|||	8	0.00159744	0.0061	0	5008	,	,		19167	0		0	False		,,,				2504	0					uc003tnb.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(85-87)aaC>aaT		Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	Pramlintide(DB01278)	C		21,4385	28.1+/-56.4	0,21,2182	134	110	118		87	-5.4	0.7	7	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	RAMP3	NM_005856.2		0,21,6482	TT,TC,CC		0.0,0.4766,0.1615		29/149	45216936	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45216936C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.87C>T	7.37:g.45216936C>T							p.N29N	NM_005856	NP_005847	O60896	RAMP3_HUMAN			1	148	+			29					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.87C>T	CCDS5503.1																																																																																				0.597	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		T	45216936	C	T	45216936	2	4	282	1	0	0	0	0	0	0	0	1	13023	535	19	1		1	RAMP3	7	45216936	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08		45216936	113921727	9	20144											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221822	C	T	55221822	3	4	282	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	10004886	55221822	103916841	10	20145											
DTX2	113878	broad.mit.edu	37	chr7	76112453	76112453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggatcctccacctcCggtgcagtcaggtatcgtgg	6	8	11	16	2	1	0	1	0	0	0	5	1	4	1	6	4	1	2	6	4	1	1			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:76112453C>T	ENST00000324432.5	+	5	1407	c.897C>T	c.(895-897)tcC>tcT	p.S299S	DTX2_ENST00000446600.1_Silent_p.S208S|DTX2_ENST00000307569.8_Silent_p.S299S|DTX2_ENST00000446820.2_Silent_p.S299S|DTX2_ENST00000413936.2_Silent_p.S299S|DTX2_ENST00000430490.2_Silent_p.S299S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	299					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCTCCACCTCCGGTGCAGTCA	0.662																																						uc011kgk.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(622-624)tcC>tcT		Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.							21	23	22					7																	76112453		2182	4244	6426	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112453C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.897C>T	7.37:g.76112453C>T						DTX2_uc003uff.4_Silent_p.S299S|DTX2_uc003ufg.4_Silent_p.S299S|DTX2_uc003ufh.4_Silent_p.S299S|DTX2_uc003ufj.4_Silent_p.S299S	p.S208S	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			2	976	+			299					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.624C>T	CCDS5587.1																																																																																				0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			T	76112453	C	T	76112453	2	4	282	1	0	0	0	0	0	0	0	1	4794	639	23	2		2	DTX2	7	76112453	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	20890631	76112453	83026210	11	20146											
OR2A2	442361	broad.mit.edu	37	chr7	143807297	143807297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgtttgtcttagtcGggcctctttccttgattctg	2	19	10	10	1	3	1	0	1	3	0	5	1	4	1	3	1	0	1	3	1	1	5	rs374016349		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:143807297G>A	ENST00000408979.2	+	1	691	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGTCTTAGTCGGGCCTCTTTC	0.522																																						uc011ktz.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(622-624)Ggg>Agg		Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.		G	ARG/GLY	0,3986		0,0,1993	132	138	136		622	2.6	0	7		136	1,8363		0,1,4181	no	missense	OR2A2	NM_001005480.2	125	0,1,6174	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	208/319	143807297	1,12349	1993	4182	6175	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807297G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.622G>A	7.37:g.143807297G>A	ENSP00000386209:p.Gly208Arg						p.G208R	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			0	622	+	Melanoma(164;0.0783)		208					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.622G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	6.675	0.493145	0.12702	0.0	1.2E-4	ENSG00000221989	ENST00000408979	T	0.37752	1.18	3.47	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.567304	0.13231	U	0.403665	T	0.58104	0.2099	M	0.89353	3.025	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.46020	-0.9221	10	0.27785	T	0.31	-2.5401	5.6966	0.17859	0.2548:0.0:0.7452:0.0	.	208	Q6IF42	OR2A2_HUMAN	R	208	ENSP00000386209:G208R	ENSP00000386209:G208R	G	+	1	0	OR2A2	143438230	0.005000	0.15991	0.014000	0.15608	0.019000	0.09904	0.639000	0.24690	0.791000	0.33826	0.511000	0.50034	GGG		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			A	143807297	G	A	143807297	3	1	282	1	0	0	0	0	1	0	0	0	10977	1116	39	2	624	2	OR2A2	7	143807297	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	67694844	143807297	15331366	12	20147											
CSMD3	114788	broad.mit.edu	37	chr8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaccatcacttaccttCgtaatataccttaaatccat	13	13	1	14	1	1	0	1	0	0	0	3	0	2	0	5	0	3	1	5	0	7	7	rs536561292		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0	0	5008	,	,		15815	0.001		0	False		,,,				2504	0					uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(511-513)Gaa>Aaa		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							112	94	100					8																	114290824		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114290824C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.511G>A	8.37:g.114290824C>T	ENSP00000297405:p.Glu171Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	670	-			171			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.511G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213211	0.09757	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	CUB (4);	0.000000	0.64402	D	0.000007	T	0.46171	0.1379	L	0.41824	1.3	0.40766	D	0.983044	D;D;D;D	0.76494	0.995;0.999;0.997;0.971	D;D;D;P	0.74023	0.956;0.982;0.967;0.508	T	0.31779	-0.9931	10	0.38643	T	0.18	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	171;171;171;131	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	K	131;171;171;171	ENSP00000345799:E131K;ENSP00000297405:E171K;ENSP00000412263:E171K;ENSP00000343124:E171K	ENSP00000297405:E171K	E	-	1	0	CSMD3	114360000	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.493000	0.66899	2.480000	0.83734	0.543000	0.68304	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114290824	C	T	114290824	3	4	282	1	0	0	0	0	1	0	0	0	3946	893	31	2	10888	2	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		114290824	32073198	13	20148											
DENND3	22898	broad.mit.edu	37	chr8	142151330	142151330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttctacaatggcaaaaCgcaccgggagtgtcctggct	9	10	11	11	2	1	0	0	0	1	0	2	1	2	1	2	3	2	4	2	3	4	2	rs559179440	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:142151330C>T	ENST00000262585.2	+	4	568	c.290C>T	c.(289-291)aCg>aTg	p.T97M	DENND3_ENST00000519811.1_Missense_Mutation_p.T177M|DENND3_ENST00000424248.1_Missense_Mutation_p.T97M|DENND3_ENST00000518347.1_Missense_Mutation_p.T177M	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	97					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGGCAAAACGCACCGGGAG	0.532													C|||	2	0.000399361	8e-04	0	5008	,	,		15941	0		0	False		,,,				2504	0.001					uc003yvy.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(289-291)aCg>aTg		Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.							165	124	138					8																	142151330		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142151330C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.290C>T	8.37:g.142151330C>T	ENSP00000262585:p.Thr97Met					DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.3_Missense_Mutation_p.R176C|DENND3_uc010mep.3_Missense_Mutation_p.T110M	p.T97M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		3	568	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		97					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.290C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	7.486	0.649579	0.14516	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058;ENST00000518249	T;T;T;T	0.48201	2.83;2.43;2.83;0.82	5.24	-1.05	0.10036	.	2.036920	0.02226	N	0.064419	T	0.41073	0.1143	L	0.47716	1.5	0.09310	N	1	D;D;B	0.58268	0.982;0.967;0.185	B;B;B	0.41202	0.35;0.35;0.01	T	0.41088	-0.9528	10	0.48119	T	0.1	-22.091	6.6204	0.22800	0.0:0.2921:0.3222:0.3857	.	177;97;177	E9PF32;A2RUS2;E5RIR7	.;DEND3_HUMAN;.	M	110;177;97;97;177;177;10	ENSP00000262585:T97M;ENSP00000410594:T97M;ENSP00000428714:T177M;ENSP00000430786:T177M	ENSP00000262585:T97M	T	+	2	0	DENND3	142220512	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.035000	0.13797	-0.597000	0.05813	0.655000	0.94253	ACG		0.532	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142151330	C	T	142151330	3	4	282	1	0	0	0	0	1	0	0	0	4432	536	19	1	300	1	DENND3	8	142151330	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	27860506	142151330	4212692	14	20149											
PTEN	5728	broad.mit.edu	37	chr10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggtgtaatgatatGtgcatatttattacatcggg	12	14	10	5	2	0	1	0	1	0	0	1	2	0	1	0	2	3	2	0	2	6	6			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr10:89692923G>A	ENST00000371953.3	+	5	1764	c.407G>A	c.(406-408)tGt>tAt	p.C136Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C136Y(8)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		69	Whole gene deletion(37)|Substitution - Missense(13)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)	prostate(16)|central_nervous_system(14)|endometrium(10)|breast(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|meninges(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM983501	PTEN	M		c.(406-408)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							123	117	119					10																	89692923		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692923G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.407G>A	10.37:g.89692923G>A	ENSP00000361021:p.Cys136Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C136Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1439	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.407G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658698	0.88154	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	9	.	.	.	-4.1412	18.7776	0.91918	0.0:0.0:1.0:0.0	.	136	P60484	PTEN_HUMAN	Y	136	ENSP00000361021:C136Y	.	C	+	2	0	PTEN	89682903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	TGT		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692923	G	A	89692923	3	1	282	1	0	0	0	0	1	0	0	0	12738	1377	48	3	425	3	PTEN	10	89692923	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		89692923	45841824	15	20150											
OR4C11	219429	broad.mit.edu	37	chr11	55371120	55371120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagaataagatgactaCaattatgtgagacgtgcaag	17	8	10	6	1	0	4	0	2	0	3	0	5	0	4	1	0	2	1	1	0	7	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55371120C>G	ENST00000302231.4	-	1	754	c.730G>C	c.(730-732)Gta>Cta	p.V244L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AAGATGACTACAATTATGTGA	0.408																																						uc010rii.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(730-732)Gta>Cta		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.							71	61	64					11																	55371120		2179	4002	6181	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371120C>G	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.730G>C	11.37:g.55371120C>G	ENSP00000306651:p.Val244Leu						p.V244L	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			0	755	-			244					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.730G>C	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433854	0.25813	.	.	ENSG00000172188	ENST00000302231	T	0.00216	8.53	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.156593	0.29145	U	0.013001	T	0.00440	0.0014	H	0.95611	3.695	0.09310	N	1	B	0.30793	0.295	B	0.36845	0.234	T	0.06267	-1.0836	10	0.87932	D	0	.	11.2668	0.49114	0.0:0.9082:0.0:0.0918	.	244	Q6IEV9	OR4CB_HUMAN	L	244	ENSP00000306651:V244L	ENSP00000306651:V244L	V	-	1	0	OR4C11	55127696	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.778000	0.26732	1.181000	0.42912	0.478000	0.44815	GTA		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		G	55371120	C	G	55371120	3	3	282	1	0	0	0	0	1	0	0	0	11045	478	17	5	204	5	OR4C11	11	55371120	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		55371120	79635396	16	20151											
OR5D13	390142	broad.mit.edu	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	11	8	10	12	2	2	2	0	0	2	2	3	3	2	2	3	1	3	1	3	1	3	1	rs369729738		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						uc010ril.2																			0		p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(706-708)Cgc>Tgc		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.		C	CYS/ARG	0,4400		0,0,2200	134	119	124		706	-7.6	0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	706	+		all_epithelial(135;0.196)	236		R -> L (in dbSNP:rs7124871).			Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		T	55541619	C	T	55541619	3	4	282	1	0	0	0	0	1	0	0	0	11154	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	170499	55541619	79464897	17	20152											
OR5AS1	219447	broad.mit.edu	37	chr11	55798503	55798503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgctctttgctttgtgCagcttcatccagaccagcac	6	14	7	14	0	3	1	1	0	2	1	4	1	4	1	2	0	5	5	2	0	0	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55798503C>T	ENST00000313555.1	+	1	609	c.609C>T	c.(607-609)tgC>tgT	p.C203C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTGCTTTGTGCAGCTTCATCC	0.423																																						uc010riw.2																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(607-609)tgC>tgT		Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.							303	300	301					11																	55798503		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798503C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.609C>T	11.37:g.55798503C>T							p.C203C	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			0	609	+	Esophageal squamous(21;0.00693)		203					Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.609C>T	CCDS31516.1																																																																																				0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		T	55798503	C	T	55798503	2	4	282	1	0	0	0	0	0	0	0	1	11146	718	25	3		3	OR5AS1	11	55798503	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	256884	55798503	79208013	18	20153											
FADS2	9415	broad.mit.edu	37	chr11	61615699	61615699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctaacatcttccacaaGgatcccgatgtgaacatgct	13	9	7	12	1	1	1	0	1	1	0	3	3	3	2	3	1	4	1	3	1	4	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:61615699G>A	ENST00000278840.4	+	5	1317	c.687G>A	c.(685-687)aaG>aaA	p.K229K	FADS2_ENST00000257261.6_Silent_p.K207K|FADS2_ENST00000522056.1_Silent_p.K198K|FADS2_ENST00000521849.1_Silent_p.K229K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	229					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCTTCCACAAGGATCCCGATG	0.557																																						uc001nsl.1																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(685-687)aaG>aaA		Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	Alpha-Linolenic Acid(DB00132)						205	157	173					11																	61615699		2202	4299	6501	SO:0001819	synonymous_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61615699G>A	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.687G>A	11.37:g.61615699G>A						FADS2_uc001nsj.2_Silent_p.K207K|FADS2_uc010rlo.1_Silent_p.K198K|FADS2_uc001nsk.3_Silent_p.K229K	p.K229K	NM_004265	NP_004256	O95864	FADS2_HUMAN			4	837	+			229					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP	ENST00000278840.4	37	c.687G>A	CCDS8012.1																																																																																				0.557	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		A	61615699	G	A	61615699	2	1	282	1	0	0	0	0	0	0	0	1	5366	991	35	3		3	FADS2	11	61615699	Silent	SNP	G	TCGA-81-5911-01A-12D-1845-08	5817196	61615699	73390817	19	20154											
VEGFB	7423	broad.mit.edu	37	chr11	64004662	64004663	+	Frame_Shift_Ins	INS	-	-	A																															ctatcttacttttcagacctINSaaaaaaaaggacagtgctgt																										TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:64004662_64004663insA	ENST00000309422.2	+	5	674_675	c.378_379insA	c.(379-381)aaafs	p.K127fs	RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_Frame_Shift_Ins_p.K127fs	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	127					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)	p.K129fs*5(2)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TTTTCAGACCTAAAAAAAAGGA	0.47																																						uc001nyw.3																			2	Deletion - Frameshift(2)	p.K129fs*5(2)	large_intestine(2)	endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						c.(376-381)cctaaafs		Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.																																				SO:0001589	frameshift_variant	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64004662_64004663insA	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.386dupA	11.37:g.64004670_64004670dupA	ENSP00000311127:p.Lys127fs					VEGFB_uc001nyx.3_Frame_Shift_Ins_p.P126fs	p.P126fs	NM_003377	NP_003368	P49765	VEGFB_HUMAN			4	628_629	+			126					Q16528	Frame_Shift_Ins	INS	ENST00000309422.2	37	c.378_379insA	CCDS8062.1																																																																																				0.47	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		A	64004663	-	A	64004662	7	5	282	1	0	1	1	0	0	0	0	0	17148	1509	53	0	396	0	VEGFB	11	64004662	Frame_Shift_Ins	INS	-	TCGA-81-5911-01A-12D-1845-08	2388963	64004662	71001854	20	20155											
CWF19L2	143884	broad.mit.edu	37	chr11	107224390	107224390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctcttcaccaagacGttctctctcagctgctttgg	5	15	6	15	1	5	1	2	0	4	1	8	1	6	1	2	1	2	3	2	1	1	4	rs146937549		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:107224390G>A	ENST00000282251.5	-	13	1972	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R649C	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	649							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCACCAAGACGTTCTCTCTCA	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		17802	0		0	False		,,,				2504	0					uc010rvp.2																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(1945-1947)Cgt>Tgt		Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.							111	109	110					11																	107224390		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107224390G>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1945C>T	11.37:g.107224390G>A	ENSP00000282251:p.Arg649Cys					CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	p.R649C	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	12	1975	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	649					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1945C>T	CCDS8336.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.975	0.749962	0.15778	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.19938	2.79;2.11	5.95	0.361	0.16107	.	0.473727	0.27500	N	0.019092	T	0.12561	0.0305	N	0.16307	0.4	0.25845	N	0.984019	B	0.09022	0.002	B	0.09377	0.004	T	0.23084	-1.0198	10	0.54805	T	0.06	-0.016	12.2847	0.54786	0.3096:0.0:0.6904:0.0	.	649	Q2TBE0	C19L2_HUMAN	C	649	ENSP00000282251:R649C;ENSP00000387533:R649C	ENSP00000282251:R649C	R	-	1	0	CWF19L2	106729600	0.001000	0.12720	0.127000	0.21898	0.298000	0.27526	0.793000	0.26944	0.145000	0.18977	-0.150000	0.13652	CGT		0.403	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		A	107224390	G	A	107224390	3	1	282	1	0	0	0	0	1	0	0	0	4072	1145	40	1	763	1	CWF19L2	11	107224390	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	43219728	107224390	27782126	21	20156											
CACNA1C	775	broad.mit.edu	37	chr12	2795380	2795380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgaagcgacagaaggaccGagggggagacatctctcaga	13	5	14	9	2	3	4	1	1	2	3	4	8	3	5	1	3	1	0	1	3	2	0	rs190288386	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr12:2795380G>A	ENST00000347598.4	+	47	5873	c.5873G>A	c.(5872-5874)cGa>cAa	p.R1958Q	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1951Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1916Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1935Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1930Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1938Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1927Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1918Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1918Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1945Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1945Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1910Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1993					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGAAGGACCGAGGGGGAGAC	0.582													g|||	2	0.000399361	8e-04	0	5008	,	,		21578	0.001		0	False		,,,				2504	0					uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5977-5979)cGa>cAa		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						113	116	115					12																	2795380		1986	4158	6144	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2795380G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5873G>A	12.37:g.2795380G>A	ENSP00000266376:p.Arg1958Gln					CACNA1C_uc001qkc.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1899Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1918Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1951Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1916Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1958Q|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1970Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1930Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1938Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1927Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1929Q|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1907Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1717Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R601Q|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R228Q	p.R1993Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	47	6291	+			1993					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5978G>A	CCDS44788.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.046	-1.266128	0.01433	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.82	-0.275	0.12906	.	4.688350	0.01589	N	0.021467	T	0.09555	0.0235	N	0.00128	-2.045	0.09310	N	0.999998	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001;0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.46721	-0.9171	10	0.02654	T	1	.	6.3008	0.21111	0.6123:0.2738:0.114:0.0	.	601;1951;1907;1993;1945;1929;1910;1927;1938;1910;1930;1910;1941;1958;1910;1945;1981;1918;1916;1918;1899;1929;1929;1910;1910	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1935;1910;1910;1938;1910;1929;1929;1918;1910;1958;1930;1910;1951;1927;1945;1916;1929;1910;1981;1945;1981;1918;1811	ENSP00000336982:R1935Q;ENSP00000382563:R1910Q;ENSP00000382552:R1910Q;ENSP00000382547:R1938Q;ENSP00000382506:R1910Q;ENSP00000382530:R1929Q;ENSP00000382546:R1929Q;ENSP00000382500:R1918Q;ENSP00000382549:R1910Q;ENSP00000266376:R1958Q;ENSP00000382515:R1930Q;ENSP00000382510:R1910Q;ENSP00000341092:R1951Q;ENSP00000382537:R1927Q;ENSP00000329877:R1945Q;ENSP00000382557:R1916Q;ENSP00000385724:R1929Q;ENSP00000382512:R1910Q;ENSP00000382542:R1981Q;ENSP00000382526:R1945Q;ENSP00000385896:R1981Q;ENSP00000382504:R1918Q	ENSP00000323129:R1811Q	R	+	2	0	CACNA1C	2665641	0.986000	0.35501	0.705000	0.30386	0.196000	0.23810	2.162000	0.42367	-0.196000	0.10366	-0.237000	0.12165	CGA		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2795380	G	A	2795380	3	1	282	1	0	0	0	0	1	0	0	0	2540	1058	37	2	6616	2	CACNA1C	12	2795380	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		2795380	131056515	22	20157											
RB1	5925	broad.mit.edu	37	chr13	48934208	48934208	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcagttaatgctatgTgtccttgactattttattaa	10	20	5	6	0	2	1	2	1	0	0	3	1	3	1	1	0	1	2	1	0	5	8	rs577338869		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr13:48934208T>A	ENST00000267163.4	+	7	801	c.663T>A	c.(661-663)tgT>tgA	p.C221*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	221					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TAATGCTATGTGTCCTTGACT	0.313		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		21	Whole gene deletion(15)|Unknown(6)	p.0?(15)|p.?(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(661-663)tgT>tgA		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						99	100	100					13																	48934208		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934208T>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.663T>A	13.37:g.48934208T>A	ENSP00000267163:p.Cys221*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_5'UTR	p.C221*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	6	829	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	221					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.663T>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	33	5.231953	0.95207	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7971	0.40742	0.0:0.0807:0.0:0.9193	.	.	.	.	X	200;221	.	ENSP00000267163:C221X	C	+	3	2	RB1	47832209	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.807000	0.47955	2.126000	0.65437	0.528000	0.53228	TGT		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			A	48934208	T	A	48934208	4	1	282	1	0	0	0	0	0	1	0	0	13098	1702	59	5	689	5	RB1	13	48934208	Nonsense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		48934208	66235670	23	20158											
C15orf42	90381	broad.mit.edu	37	chr15	90161424	90161424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattggtgttgttgaagagtCccctgaaaaaggagatggtg	11	12	14	4	0	0	4	0	2	0	2	1	5	1	4	2	3	0	2	2	3	4	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr15:90161424C>A	ENST00000268138.7	+	17	3107	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.S1000Y			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1001					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTGAAGAGTCCCCTGAAAAA	0.388																																						uc002boe.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(3001-3003)tCc>tAc		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							371	354	360					15																	90161424		1928	4127	6055	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90161424C>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3002C>A	15.37:g.90161424C>A	ENSP00000268138:p.Ser1001Tyr					C15orf42_uc021sug.1_Missense_Mutation_p.S1000Y	p.S1001Y	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		16	3002	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1001					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3002C>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964331	0.74131	.	.	ENSG00000140534	ENST00000268138	T	0.23754	1.89	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58364	-0.7649	10	0.87932	D	0	-16.1552	17.4544	0.87603	0.0:1.0:0.0:0.0	.	1001	Q7Z2Z1	TICRR_HUMAN	Y	1001	ENSP00000268138:S1001Y	ENSP00000268138:S1001Y	S	+	2	0	C15orf42	87962428	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.345000	0.65987	2.174000	0.68829	0.313000	0.20887	TCC		0.388	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90161424	C	A	90161424	3	1	282	1	0	0	0	0	1	0	0	0	1796	855	30	5	3068	5	C15orf42	15	90161424	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		90161424	12369968	24	20159											
ACSM2B	348158	broad.mit.edu	37	chr16	20554273	20554273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgctgatcacagccGtctcaaccacagcagggtgc	8	7	12	14	1	2	1	2	1	1	0	3	1	2	1	2	2	5	3	2	2	1	0	rs370065320	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr16:20554273G>A	ENST00000329697.6	-	12	1640	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.T412M|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T491M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.T491M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	491					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATCACAGCCGTCTCAACCAC	0.557													g|||	2	0.000399361	8e-04	0	5008	,	,		19943	0.001		0	False		,,,				2504	0					uc002dhj.4																			0		p.E490A(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1471-1473)aCg>aTg		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		G	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	102	98	100		1472,1472	2.1	0	16		100	0,8598		0,0,4299	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	81,81	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	491/578,491/578	20554273	1,12999	2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554273G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1472C>T	16.37:g.20554273G>A	ENSP00000327453:p.Thr491Met					ACSM2B_uc002dhk.4_Missense_Mutation_p.T491M|ACSM2B_uc010bwf.1_Missense_Mutation_p.T491M	p.T491M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1682	-			491					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1472C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872350	0.33069	2.27E-4	0.0	ENSG00000066813	ENST00000329697	T	0.58940	0.3	3.1	2.13	0.27403	AMP-dependent synthetase/ligase (1);	0.575751	0.14538	N	0.313470	T	0.67458	0.2895	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.66093	-0.6009	10	0.72032	D	0.01	-0.1611	10.0092	0.41975	0.1048:0.0:0.8951:0.0	.	491;491	A8K051;Q68CK6	.;ACS2B_HUMAN	M	491	ENSP00000327453:T491M	ENSP00000327453:T491M	T	-	2	0	ACSM2B	20461774	0.019000	0.18553	0.006000	0.13384	0.289000	0.27227	1.928000	0.40104	0.644000	0.30656	-0.357000	0.07601	ACG		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		A	20554273	G	A	20554273	3	1	282	1	0	0	0	0	1	0	0	0	184	1145	40	1	273	1	ACSM2B	16	20554273	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		20554273	69800480	25	20160											
ATP2A3	489	broad.mit.edu	37	chr17	3851127	3851127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacggccacacccaccgctTtgcccgatgtgatattggtg	7	9	10	15	3	0	1	0	1	0	0	0	2	0	1	5	2	1	1	5	2	1	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:3851127T>A	ENST00000352011.3	-	8	707	c.653A>T	c.(652-654)aAa>aTa	p.K218I	ATP2A3_ENST00000359983.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000309890.7_Missense_Mutation_p.K218I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.K218I			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	218					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACCCACCGCTTTGCCCGATGT	0.682																																					GBM(32;29 774 15719 37967)	uc002fwy.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(652-654)aAa>aTa		Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.							20	22	21					17																	3851127		2110	4153	6263	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3851127T>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.653A>T	17.37:g.3851127T>A	ENSP00000301387:p.Lys218Ile					ATP2A3_uc002fwz.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxa.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxb.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxc.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxd.2_Missense_Mutation_p.K218I|ATP2A3_uc002fwx.2_Missense_Mutation_p.K218I	p.K218I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	7	826	-			218					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.653A>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120357	0.56613	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	3.4	3.4	0.38934	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.063133	0.64402	D	0.000007	D	0.89760	0.6808	L	0.52573	1.65	0.54753	D	0.999989	P;P;B;B;B;B	0.45594	0.862;0.672;0.387;0.335;0.335;0.335	P;P;P;P;P;P	0.48873	0.593;0.587;0.553;0.52;0.52;0.52	D	0.90151	0.4221	10	0.59425	D	0.04	.	12.0237	0.53358	0.0:0.0:0.0:1.0	.	218;218;218;218;218;218	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	I	218	ENSP00000380236:K218I;ENSP00000301387:K218I;ENSP00000353072:K218I;ENSP00000380234:K218I;ENSP00000312577:K218I;ENSP00000380229:K218I	ENSP00000312577:K218I	K	-	2	0	ATP2A3	3797876	1.000000	0.71417	0.996000	0.52242	0.710000	0.40934	3.685000	0.54678	1.779000	0.52309	0.402000	0.26972	AAA		0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		A	3851127	T	A	3851127	3	1	282	1	0	0	0	0	1	0	0	0	1138	1841	64	5	2613	5	ATP2A3	17	3851127	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		3851127	77344083	26	20161											
ANKFN1	162282	broad.mit.edu	37	chr17	54450196	54450196	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaacaggctttgagcAtgccagtgagtataagcaga	15	8	11	7	0	0	4	0	3	0	1	0	4	0	4	1	1	4	4	1	1	4	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:54450196A>T	ENST00000318698.2	+	6	835	c.800A>T	c.(799-801)cAt>cTt	p.H267L	ANKFN1_ENST00000566473.2_Missense_Mutation_p.H267L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	267										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGCTTTGAGCATGCCAGTGAG	0.433																																						uc002iun.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(799-801)cAt>cTt		Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.							121	104	110					17																	54450196		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54450196A>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.800A>T	17.37:g.54450196A>T	ENSP00000321627:p.His267Leu						p.H267L	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			5	835	+			267						Missense_Mutation	SNP	ENST00000318698.2	37	c.800A>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556870	0.86231	.	.	ENSG00000153930	ENST00000318698	T	0.24151	1.87	5.66	5.66	0.87406	Fibronectin, type III (1);	0.044865	0.85682	D	0.000000	T	0.47116	0.1428	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.49062	-0.8978	10	0.66056	D	0.02	-12.5491	15.9017	0.79384	1.0:0.0:0.0:0.0	.	267	Q8N957	ANKF1_HUMAN	L	267	ENSP00000321627:H267L	ENSP00000321627:H267L	H	+	2	0	ANKFN1	51805195	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.339000	0.96797	2.153000	0.67306	0.460000	0.39030	CAT		0.433	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		T	54450196	A	T	54450196	3	4	282	1	0	0	0	0	1	0	0	0	625	217	8	5	822	5	ANKFN1	17	54450196	Missense_Mutation	SNP	A	TCGA-81-5911-01A-12D-1845-08	50599069	54450196	26745014	27	20162											
CYB561	1534	broad.mit.edu	37	chr17	61514742	61514742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaggcctatgaccatgCagagggggtgcgcgttgaac	10	7	15	9	2	1	4	1	2	0	2	1	4	1	4	2	3	3	2	2	3	2	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:61514742C>A	ENST00000392976.1	-	2	466	c.167G>T	c.(166-168)tGc>tTc	p.C56F	CYB561_ENST00000542042.1_Missense_Mutation_p.C123F|CYB561_ENST00000448884.2_Missense_Mutation_p.C56F|CYB561_ENST00000584031.1_Missense_Mutation_p.C56F|CYB561_ENST00000582297.1_Missense_Mutation_p.C56F|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000360793.3_Missense_Mutation_p.C56F|CYB561_ENST00000582034.1_Missense_Mutation_p.C27F|CYB561_ENST00000582997.1_Missense_Mutation_p.C63F|CYB561_ENST00000392975.2_Missense_Mutation_p.C56F|CYB561_ENST00000581573.1_Missense_Mutation_p.C56F	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	56	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		TATGACCATGCAGAGGGGGTG	0.647																																						uc002jaq.3																			0				lung(2)|ovary(1)|prostate(1)	4						c.(304-306)tGc>tTc		Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.							77	76	76					17																	61514742		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61514742C>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.167G>T	17.37:g.61514742C>A	ENSP00000376702:p.Cys56Phe					CYB561_uc002jap.3_Missense_Mutation_p.C56F|CYB561_uc002jar.3_Missense_Mutation_p.C56F|CYB561_uc002jas.3_Missense_Mutation_p.C56F|CYB561_uc010ddt.3_Missense_Mutation_p.C56F|CYB561_uc002jat.3_Missense_Mutation_p.C56F|CYB561_uc010wpf.2_Missense_Mutation_p.C56F|CYB561_uc010wpg.2_Missense_Mutation_p.C27F	p.C102F	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	1	328	-			56			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.305G>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435982	0.43224	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.33	4.33	0.51752	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.27053	0.805	0.80722	D	1	P;D;P;P	0.76494	0.465;0.999;0.782;0.465	B;D;B;B	0.75020	0.115;0.985;0.223;0.115	T	0.20605	-1.0270	10	0.20046	T	0.44	-40.3047	16.0034	0.80327	0.0:1.0:0.0:0.0	.	56;56;123;56	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	F	56;56;56;56;123	ENSP00000354028:C56F;ENSP00000376702:C56F;ENSP00000376701:C56F;ENSP00000400350:C56F;ENSP00000442773:C123F	ENSP00000354028:C56F	C	-	2	0	CYB561	58868474	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.474000	0.66781	2.254000	0.74563	0.561000	0.74099	TGC		0.647	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		A	61514742	C	A	61514742	3	1	282	1	0	0	0	0	1	0	0	0	4119	710	25	5	608	5	CYB561	17	61514742	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	7064546	61514742	19680468	28	20163											
CCDC45	90799	broad.mit.edu	37	chr17	62532771	62532771	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattcaaaagcaaagattaCgagacctaagaaactatgcc	19	7	6	9	1	1	3	1	0	0	3	1	4	1	3	2	0	4	1	2	0	7	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:62532771C>T	ENST00000556440.2	+	18	2632	c.2122C>T	c.(2122-2124)Cga>Tga	p.R708*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R544*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	708						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GCAAAGATTACGAGACCTAAG	0.373																																						uc002jem.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(2122-2124)Cga>Tga		Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.							79	81	81					17																	62532771		1902	4120	6022	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62532771C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2122C>T	17.37:g.62532771C>T	ENSP00000450461:p.Arg708*					CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Nonsense_Mutation_p.R544*	p.R708*	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN			17	2180	+			708					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.2122C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	44	10.918061	0.99489	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.48	4.49	0.54785	.	0.209781	0.37530	N	0.002041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1012	14.4045	0.67073	0.282:0.718:0.0:0.0	.	.	.	.	X	643;708;544	.	ENSP00000438458:R643X	R	+	1	2	CEP95	59963233	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.909000	0.39917	1.402000	0.46780	0.650000	0.86243	CGA		0.373	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		T	62532771	C	T	62532771	4	4	282	1	0	0	0	0	0	1	0	0	2816	528	19	1	2192	1	CCDC45	17	62532771	Nonsense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	1018029	62532771	18662439	29	20164											
FPR2	2358	broad.mit.edu	37	chr19	52272612	52272612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccacaaaaagggcatgaTtaaatccagccgtcccttac	14	8	7	12	1	0	1	0	1	0	0	3	2	3	1	4	1	2	1	4	1	5	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:52272612T>C	ENST00000598776.1	+	2	1473	c.701T>C	c.(700-702)aTt>aCt	p.I234T	FPR2_ENST00000598953.1_Missense_Mutation_p.I234T|FPR2_ENST00000340023.6_Missense_Mutation_p.I234T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	234					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGGGCATGATTAAATCCAGC	0.507																																						uc002pxr.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(700-702)aTt>aCt		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							167	133	144					19																	52272612		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272612T>C	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.701T>C	19.37:g.52272612T>C	ENSP00000468897:p.Ile234Thr					FPR2_uc002pxs.4_Missense_Mutation_p.I234T|FPR2_uc010epf.3_Missense_Mutation_p.I234T|FPR2_uc021uyp.1_Missense_Mutation_p.I234T	p.I234T	NM_001005738	NP_001453	P25090	FPR2_HUMAN			1	746	+			234					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.701T>C	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	7.821	0.717825	0.15372	.	.	ENSG00000171049	ENST00000340023	T	0.36520	1.25	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.821486	0.10860	U	0.626223	T	0.21718	0.0523	N	0.16790	0.44	0.09310	N	0.999997	B	0.10296	0.003	B	0.15870	0.014	T	0.09907	-1.0653	10	0.38643	T	0.18	.	5.8908	0.18911	0.0:0.1205:0.0:0.8795	.	234	P25090	FPR2_HUMAN	T	234	ENSP00000340191:I234T	ENSP00000340191:I234T	I	+	2	0	FPR2	56964424	0.917000	0.31117	0.017000	0.16124	0.768000	0.43524	2.456000	0.44997	1.741000	0.51731	0.402000	0.26972	ATT		0.507	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		C	52272612	T	C	52272612	3	2	282	1	0	0	0	0	1	0	0	0	6039	1493	52	4	703	4	FPR2	19	52272612	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		52272612	6856371	30	20165											
LILRA4	23547	broad.mit.edu	37	chr19	54848923	54848923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattctctccgggggtcaCgacagggccctgcagggtca	7	7	14	13	2	3	1	2	0	1	1	5	2	4	1	2	4	1	1	2	4	0	1			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54848923C>T	ENST00000291759.4	-	5	756	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	234	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGGGGGTCACGACAGGGCCC	0.647																																						uc002qfj.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(700-702)Gtg>Atg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.							28	32	31					19																	54848923		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848923C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.700G>A	19.37:g.54848923C>T	ENSP00000291759:p.Val234Met					LILRA4_uc002qfi.3_Missense_Mutation_p.V168M	p.V234M	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	757	-	Ovarian(34;0.19)		234			Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.700G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800035	0.31869	.	.	ENSG00000239961	ENST00000291759	T	0.16597	2.33	2.51	-2.69	0.06022	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.065890	0.02501	N	0.090469	T	0.39410	0.1077	M	0.92412	3.305	0.09310	N	1	D	0.60575	0.988	P	0.54026	0.74	T	0.46261	-0.9204	10	0.51188	T	0.08	.	4.8204	0.13387	0.0:0.3067:0.5114:0.1819	.	234	P59901	LIRA4_HUMAN	M	234	ENSP00000291759:V234M	ENSP00000291759:V234M	V	-	1	0	LILRA4	59540735	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.093000	0.11111	-0.373000	0.07979	-0.519000	0.04390	GTG		0.647	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848923	C	T	54848923	3	4	282	1	0	0	0	0	1	0	0	0	8787	536	19	1	815	1	LILRA4	19	54848923	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	2576311	54848923	4280060	31	20166											
LAIR1	3903	broad.mit.edu	37	chr19	54872745	54872745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccgggccccggcacaCgaaagtcacatggctcccca	10	3	9	19	3	1	0	1	0	0	0	2	1	2	0	6	3	1	2	6	3	2	0	rs201618231		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54872745C>T	ENST00000391742.2	-	3	294	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	LAIR1_ENST00000391743.3_Missense_Mutation_p.V30M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.V47M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V48M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V41M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V47M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	48	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V48L(1)|p.V48M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCCCGGCACACGAAAGTCACA	0.567																																						uc002qfk.1																			2	Substitution - Missense(2)	p.V48L(2)|p.V48M(2)	large_intestine(1)|lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(142-144)Gtg>Atg		Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.							103	109	107					19																	54872745		2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872745C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.142G>A	19.37:g.54872745C>T	ENSP00000375622:p.Val48Met					LAIR1_uc002qfl.1_Missense_Mutation_p.V48M|LAIR1_uc002qfm.1_Missense_Mutation_p.V47M|LAIR1_uc002qfn.1_Missense_Mutation_p.V47M|LAIR1_uc010yex.2_Missense_Mutation_p.V41M|LAIR1_uc002qfo.3_Missense_Mutation_p.V30M	p.V48M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	452	-	Ovarian(34;0.19)		48			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000391742.2	37	c.142G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.393677	0.25205	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;5.75	3.16	0.837	0.18896	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.189750	0.25961	N	0.027198	T	0.23926	0.0579	L	0.53671	1.685	0.19945	N	0.999947	P;D;P;P;D;P	0.89917	0.887;0.985;0.942;0.839;1.0;0.953	B;P;P;B;D;P	0.69307	0.396;0.69;0.462;0.426;0.963;0.597	T	0.02797	-1.1109	10	0.59425	D	0.04	.	5.5759	0.17222	0.2297:0.5472:0.2231:0.0	.	48;30;47;47;48;48	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	30;48;47;48;41;47;42	ENSP00000375623:V30M;ENSP00000375622:V48M;ENSP00000391003:V47M;ENSP00000301193:V48M;ENSP00000319204:V41M;ENSP00000418998:V47M;ENSP00000392058:V42M	ENSP00000319204:V41M	V	-	1	0	LAIR1	59564557	0.188000	0.23250	0.516000	0.27786	0.033000	0.12548	0.210000	0.17455	0.317000	0.23160	0.580000	0.79431	GTG		0.567	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			T	54872745	C	T	54872745	3	4	282	1	0	0	0	0	1	0	0	0	8602	536	19	1	753	1	LAIR1	19	54872745	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	23822	54872745	4256238	32	20167											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682241	3682241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaaggatgcccacaagtcCcgcctgggtctccaggaagg	9	6	14	12	1	1	1	0	1	1	0	3	3	2	3	4	4	1	0	4	4	3	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr20:3682241C>T	ENST00000344754.4	-	6	1275	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G426R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	426	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCACAAGTCCCGCCTGGGTC	0.632																																						uc002wja.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1276-1278)Gga>Aga		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							53	47	49					20																	3682241		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682241C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1276G>A	20.37:g.3682241C>T	ENSP00000341141:p.Gly426Arg					SIGLEC1_uc002wiz.4_Missense_Mutation_p.G426R	p.G426R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			5	1276	-			426			Ig-like C2-type 4.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1276G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341188	0.41498	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.81330	-1.48;-1.48	5.68	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354305	0.20778	N	0.085851	D	0.84723	0.5535	M	0.89287	3.02	0.18873	N	0.999981	B;B	0.30664	0.289;0.245	B;B	0.40477	0.33;0.222	T	0.78201	-0.2296	10	0.49607	T	0.09	.	9.4938	0.38976	0.0:0.8313:0.0:0.1687	.	426;426	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	R	426	ENSP00000341141:G426R;ENSP00000202578:G426R	ENSP00000202578:G426R	G	-	1	0	SIGLEC1	3630241	0.030000	0.19436	0.018000	0.16275	0.506000	0.33950	2.342000	0.43992	1.401000	0.46761	0.650000	0.86243	GGA		0.632	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		T	3682241	C	T	3682241	3	4	282	1	0	0	0	0	1	0	0	0	14305	632	22	3	3917	3	SIGLEC1	20	3682241	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		3682241	59343279	33	20168											
DNAJC28	54943	broad.mit.edu	37	chr21	34861310	34861310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaataatgtcggtgttgggGtgttttatatttgaattttt	9	21	10	1	1	0	1	0	1	0	0	1	1	0	1	0	3	0	2	0	3	6	9			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr21:34861310G>A	ENST00000314399.3	-	2	829	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	DNAJC28_ENST00000381947.3_Missense_Mutation_p.P131S|DNAJC28_ENST00000402202.1_Missense_Mutation_p.P131S	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	131										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CGGTGTTGGGGTGTTTTATAT	0.393																																						uc021wim.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(391-393)Ccc>Tcc		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.							118	102	107					21																	34861310		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861310G>A	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.391C>T	21.37:g.34861310G>A	ENSP00000320303:p.Pro131Ser					DNAJC28_uc002yrv.3_Missense_Mutation_p.P131S|DNAJC28_uc002yrw.3_Missense_Mutation_p.P131S	p.P131S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			0	391	-			131					D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.391C>T	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881340	0.72294	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	D;D;D	0.86230	-2.09;-2.09;-2.09	5.38	5.38	0.77491	.	0.111909	0.64402	D	0.000008	D	0.94056	0.8095	M	0.87758	2.905	0.50039	D	0.999843	D	0.89917	1.0	D	0.69307	0.963	D	0.94202	0.7451	10	0.51188	T	0.08	-8.803	17.9044	0.88914	0.0:0.0:1.0:0.0	.	131	Q9NX36	DJC28_HUMAN	S	131	ENSP00000371373:P131S;ENSP00000320303:P131S;ENSP00000385777:P131S	ENSP00000320303:P131S	P	-	1	0	DNAJC28	33783180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.347000	0.79356	2.530000	0.85305	0.655000	0.94253	CCC		0.393	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			A	34861310	G	A	34861310	3	1	282	1	0	0	0	0	1	0	0	0	4646	1261	44	3	779	3	DNAJC28	21	34861310	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		34861310	13268585	34	20169											
TEX13B	56156	broad.mit.edu	37	chrX	107224904	107224904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggggatcttacggcatGgaagagcttccatctcagca	9	10	12	10	2	2	1	1	0	2	1	5	3	3	3	1	4	3	3	1	4	2	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:107224904G>A	ENST00000302917.1	-	2	546	c.454C>T	c.(454-456)Cat>Tat	p.H152Y		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	152								p.H152N(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CTTACGGCATGGAAGAGCTTC	0.597																																						uc004enn.1																			1	Substitution - Missense(1)	p.H152N(2)	lung(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(454-456)Cat>Tat		Homo sapiens testis expressed 13B (TEX13B), mRNA.							115	86	96					X																	107224904		2200	4300	6500	SO:0001583	missense	56156							g.chrX:107224904G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.454C>T	X.37:g.107224904G>A	ENSP00000303777:p.His152Tyr						p.H152Y	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			1	547	-			152					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.454C>T	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049118	0.36181	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.49	-1.99	0.07457	.	.	.	.	.	T	0.31606	0.0802	L	0.39898	1.24	0.09310	N	1	D	0.57899	0.981	P	0.50490	0.642	T	0.18429	-1.0337	8	0.72032	D	0.01	.	3.4492	0.07491	0.2277:0.0:0.2671:0.5052	.	152	Q9BXU2	TX13B_HUMAN	Y	152	.	ENSP00000303777:H152Y	H	-	1	0	TEX13B	107111560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.267000	0.08619	-0.672000	0.05266	-0.197000	0.12766	CAT		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			A	107224904	G	A	107224904	3	1	282	1	0	0	0	0	1	0	0	0	15774	1348	47	3	492	3	TEX13B	23	107224904	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		107224904	48045656	35	20170											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-																															aagccgtgtacgttgaacccGctgctgctgctgctgctgct																										TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						uc004fev.4																			2	Substitution - coding silent(2)	p.A229A(2)|p.A235D(1)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)gctdel		Homo sapiens PAS domain containing 1 (PASD1), mRNA.																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			8	1017_1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		-	150817144	GCT	-	150817142	7	5	282	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-81-5911-01A-12D-1845-08	43592238	150817142	4453418	36	20171											
KTI12	112970	broad.mit.edu	37	chr1	52498511	52498511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaagggccgggtaaacCgcaagtgctctgtggtacca	9	8	14	10	2	2	0	1	0	1	0	2	0	2	0	3	4	3	4	3	4	5	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:52498511C>T	ENST00000371614.1	-	1	977	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	308							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCGGGTAAACCGCAAGTGCTC	0.552																																						uc001ctj.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(922-924)cGg>cAg		Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.							86	86	86					1																	52498511		2203	4300	6503	SO:0001583	missense	112970						ATP binding	g.chr1:52498511C>T		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.923G>A	1.37:g.52498511C>T	ENSP00000360676:p.Arg308Gln					TXNDC12_uc001cti.3_Intron	p.R308Q	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			0	962	-			308						Missense_Mutation	SNP	ENST00000371614.1	37	c.923G>A	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	8.827	0.938874	0.18281	.	.	ENSG00000198841	ENST00000371614	T	0.30182	1.54	4.64	-4.94	0.03057	.	0.636054	0.14067	N	0.343689	T	0.11707	0.0285	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.20338	-1.0278	10	0.24483	T	0.36	.	5.3767	0.16170	0.5165:0.1715:0.0:0.312	.	308	Q96EK9	KTI12_HUMAN	Q	308	ENSP00000360676:R308Q	ENSP00000360676:R308Q	R	-	2	0	KTI12	52271099	0.000000	0.05858	0.041000	0.18516	0.702000	0.40608	-1.804000	0.01738	-0.683000	0.05190	0.557000	0.71058	CGG		0.552	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		T	52498511	C	T	52498511	3	4	283	1	0	0	0	0	1	0	0	0	8584	652	23	2	145	2	KTI12	1	52498511	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08		52498511	196752110	1	20172											
CACHD1	57685	broad.mit.edu	37	chr1	65141094	65141094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtagggggatttgaCgaaccttgtgcatggcagcc	7	12	14	8	1	1	1	0	1	1	0	1	3	1	2	2	3	3	4	2	3	2	4	rs182391558		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:65141094C>T	ENST00000371073.2	+	20	2738	c.2738C>T	c.(2737-2739)aCg>aTg	p.T913M	CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	913					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGATTTGACGAACCTTGTG	0.463											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0.0014	5008	,	,		17058	0		0	False		,,,				2504	0					uc001dbo.1																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2584-2586)aCg>aTg		Homo sapiens cache domain containing 1 (CACHD1), mRNA.							134	123	127					1																	65141094		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65141094C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2738C>T	1.37:g.65141094C>T	ENSP00000360113:p.Thr913Met		OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1081	CACHD1_uc001dbp.1_Missense_Mutation_p.T617M|CACHD1_uc001dbq.1_Missense_Mutation_p.T617M|CACHD1_uc010opa.1_Missense_Mutation_p.T106M	p.T862M	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			19	2690	+			913					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2585C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.7	4.031369	0.75504	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.27720	1.65;1.66	5.85	5.85	0.93711	.	0.132555	0.64402	D	0.000002	T	0.25121	0.0610	M	0.67397	2.05	0.80722	D	1	P	0.51240	0.943	B	0.37304	0.246	T	0.26780	-1.0093	10	0.72032	D	0.01	-20.5642	20.1634	0.98142	0.0:1.0:0.0:0.0	.	913	Q5VU97	CAHD1_HUMAN	M	913;862	ENSP00000360113:T913M;ENSP00000290039:T862M	ENSP00000290039:T862M	T	+	2	0	CACHD1	64913682	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.304000	0.78882	2.773000	0.95371	0.655000	0.94253	ACG		0.463	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		T	65141094	C	T	65141094	3	4	283	1	0	0	0	0	1	0	0	0	2537	536	19	1	2663	1	CACHD1	1	65141094	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	12642583	65141094	184109527	2	20173											
RPF1	80135	broad.mit.edu	37	chr1	84961638	84961638	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaacacggctgggtcattCaattggacgtatgtttgcat	10	13	10	8	2	2	0	2	0	0	0	2	1	2	1	0	3	3	4	0	3	4	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:84961638C>G	ENST00000370654.5	+	7	788	c.773C>G	c.(772-774)tCa>tGa	p.S258*	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	258	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CTGGGTCATTCAATTGGACGT	0.373																																						uc001djv.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(772-774)tCa>tGa		Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.							107	99	101					1																	84961638		2203	4300	6503	SO:0001587	stop_gained	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961638C>G	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.773C>G	1.37:g.84961638C>G	ENSP00000359688:p.Ser258*						p.S258*	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			6	818	+			258			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Nonsense_Mutation	SNP	ENST00000370654.5	37	c.773C>G	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653061	0.88056	.	.	ENSG00000117133	ENST00000370654	.	.	.	5.96	5.03	0.67393	.	0.278882	0.40144	N	0.001175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6691	15.3433	0.74314	0.0:0.7356:0.2644:0.0	.	.	.	.	X	258	.	ENSP00000359688:S258X	S	+	2	0	RPF1	84734226	0.989000	0.36119	0.841000	0.33234	0.938000	0.57974	2.449000	0.44935	1.492000	0.48499	0.655000	0.94253	TCA		0.373	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		G	84961638	C	G	84961638	4	3	283	1	0	0	0	0	0	1	0	0	13546	838	29	5	799	5	RPF1	1	84961638	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	19820544	84961638	164288983	3	20174											
ODF2L	57489	broad.mit.edu	37	chr1	86851250	86851250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccaattcagtctttTcatttagaatgtcctgcttc	7	19	5	10	0	3	1	2	0	1	1	6	1	5	1	2	0	2	2	2	0	3	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:86851250T>A	ENST00000359242.3	-	3	418	c.137A>T	c.(136-138)gAa>gTa	p.E46V	ODF2L_ENST00000370566.3_Missense_Mutation_p.E46V|ODF2L_ENST00000394731.1_Intron|ODF2L_ENST00000370567.1_Missense_Mutation_p.E46V|ODF2L_ENST00000317336.7_Missense_Mutation_p.E46V|ODF2L_ENST00000294678.2_Missense_Mutation_p.E46V	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	46						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCAGTCTTTTCATTTAGAAT	0.343																																						uc001dll.2																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(136-138)gAa>gTa		Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.							83	79	80					1																	86851250		2202	4300	6502	SO:0001583	missense	57489					centrosome		g.chr1:86851250T>A		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.137A>T	1.37:g.86851250T>A	ENSP00000359600:p.Glu46Val					ODF2L_uc001dlp.3_Missense_Mutation_p.E46V|ODF2L_uc010osg.2_Missense_Mutation_p.E46V|ODF2L_uc001dlm.2_Missense_Mutation_p.E46V|ODF2L_uc021opg.1_Intron|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	p.E46V	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	2	499	-			46					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.137A>T	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992723	0.54041	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	T;T;T;T;T	0.29142	1.58;1.58;1.59;1.6;1.58	5.4	3.02	0.34903	.	1.148980	0.06127	N	0.669936	T	0.18087	0.0434	L	0.50333	1.59	0.09310	N	0.999999	B;P;P;P;P	0.48089	0.253;0.673;0.525;0.617;0.905	B;B;B;B;P	0.48189	0.17;0.242;0.165;0.173;0.57	T	0.17623	-1.0363	10	0.46703	T	0.11	-1.0E-4	5.7125	0.17943	0.0:0.0899:0.1777:0.7324	.	46;46;46;46;46	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	V	46	ENSP00000359597:E46V;ENSP00000359600:E46V;ENSP00000320165:E46V;ENSP00000359598:E46V;ENSP00000294678:E46V	ENSP00000294678:E46V	E	-	2	0	ODF2L	86623838	0.125000	0.22332	0.001000	0.08648	0.872000	0.50106	1.185000	0.32065	0.422000	0.26005	0.529000	0.55759	GAA		0.343	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			A	86851250	T	A	86851250	3	1	283	1	0	0	0	0	1	0	0	0	10828	1783	62	5	2013	5	ODF2L	1	86851250	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	1889612	86851250	162399371	4	20175											
S100A7L2	645922	broad.mit.edu	37	chr1	153409549	153409549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcactggcttcccccGgaacagggtgccactccatg	7	8	12	14	1	1	0	1	0	0	0	3	2	3	2	4	4	2	1	4	4	1	1	rs568882807		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:153409549G>A	ENST00000368725.2	-	3	323	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	97							calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTTCCCCCGGAACAGGGTG	0.488													G|||	1	0.000199681	0	0	5008	,	,		17628	0		0	False		,,,				2504	0.001					uc010pdx.2																			0				NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(322-324)tcC>tcT		Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.							155	166	162					1																	153409549		2203	4300	6503	SO:0001819	synonymous_variant	645922							g.chr1:153409549G>A			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.324C>T	1.37:g.153409549G>A							p.S108S	NM_001045479	NP_001038944			LUSC - Lung squamous cell carcinoma(543;0.171)		2	402	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)								Silent	SNP	ENST00000368725.2	37	c.324C>T																																																																																					0.488	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		A	153409549	G	A	153409549	2	1	283	1	0	0	0	0	0	0	0	1	13785	1103	39	2		2	S100A7L2	1	153409549	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	66558299	153409549	95841072	5	20176											
ZP4	57829	broad.mit.edu	37	chr1	238048511	238048511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagggttcacaaagctgAaggtgaagatgctgaagcgc	12	8	14	7	1	1	4	1	3	0	1	1	4	1	4	0	2	3	4	0	2	5	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:238048511A>C	ENST00000366570.4	-	9	1423	c.1265T>G	c.(1264-1266)tTc>tGc	p.F422C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	422	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CACAAAGCTGAAGGTGAAGAT	0.537																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1264-1266)tTc>tGc		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							92	94	93					1																	238048511		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048511A>C	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1265T>G	1.37:g.238048511A>C	ENSP00000355529:p.Phe422Cys					LOC100130331_uc010pyc.2_Intron	p.F422C	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		8	1552	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	422			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1265T>G	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922734	0.52653	.	.	ENSG00000116996	ENST00000366570	D	0.91068	-2.78	5.1	5.1	0.69264	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	H	0.94886	3.595	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97241	0.9891	10	0.87932	D	0	-23.4067	12.8727	0.57975	1.0:0.0:0.0:0.0	.	422	Q12836	ZP4_HUMAN	C	422	ENSP00000355529:F422C	ENSP00000355529:F422C	F	-	2	0	ZP4	236115134	1.000000	0.71417	0.987000	0.45799	0.197000	0.23852	7.419000	0.80179	1.927000	0.55829	0.533000	0.62120	TTC		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			C	238048511	A	C	238048511	3	2	283	1	0	0	0	0	1	0	0	0	18215	246	9	5	373	5	ZP4	1	238048511	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	84638962	238048511	11202110	6	20177											
OR2G6	391211	broad.mit.edu	37	chr1	248685273	248685273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggccatggggttgggctCgtctgagtgtattctcttgg	3	15	16	7	1	2	1	0	1	2	0	4	1	2	1	1	5	0	3	1	5	1	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:248685273C>T	ENST00000343414.4	+	1	358	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S109L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTTGGGCTCGTCTGAGTGT	0.547																																						uc001ien.1																			1	Substitution - Missense(1)	p.S109L(2)	lung(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(325-327)tCg>tTg		Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.							103	101	101					1																	248685273		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685273C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.326C>T	1.37:g.248685273C>T	ENSP00000341291:p.Ser109Leu						p.S109L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	326	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	109					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.326C>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.94	1.492442	0.26774	.	.	ENSG00000188558	ENST00000343414	T	0.03094	4.05	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000624	T	0.11793	0.0287	M	0.67625	2.065	0.09310	N	1	D	0.89917	1.0	P	0.60949	0.881	T	0.01675	-1.1298	10	0.72032	D	0.01	.	9.8654	0.41140	0.0:0.6416:0.3584:0.0	.	109	Q5TZ20	OR2G6_HUMAN	L	109	ENSP00000341291:S109L	ENSP00000341291:S109L	S	+	2	0	OR2G6	246751896	0.000000	0.05858	0.013000	0.15412	0.011000	0.07611	-4.456000	0.00231	1.869000	0.54173	0.400000	0.26472	TCG		0.547	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		T	248685273	C	T	248685273	3	4	283	1	0	0	0	0	1	0	0	0	11000	893	31	2	328	2	OR2G6	1	248685273	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	10636762	248685273	565348	7	20178											
TTC15	51112	broad.mit.edu	37	chr2	3392072	3392072	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggacttcttcgactcCtttactacctccgccttcat	5	14	5	17	3	2	0	1	0	1	0	6	2	4	1	5	1	2	0	5	1	2	6	rs189855582		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:3392072C>T	ENST00000324266.5	+	2	873	c.678C>T	c.(676-678)tcC>tcT	p.S226S	TRAPPC12_ENST00000382110.2_Silent_p.S226S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	226					vesicle-mediated transport (GO:0016192)												TCTTCGACTCCTTTACTACCT	0.711																																						uc002qxm.1																			0											c.(676-678)tcC>tcT		Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.							44	50	48					2																	3392072		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3392072C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.678C>T	2.37:g.3392072C>T						TRAPPC12_uc002qxn.1_Silent_p.S226S|TRAPPC12_uc010ewm.1_Silent_p.S226S	p.S226S	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN			1	884	+			226					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.678C>T	CCDS1652.1																																																																																				0.711	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3392072	C	T	3392072	2	4	283	1	0	0	0	0	0	0	0	1	16679	668	24	3		3	TTC15	2	3392072	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		3392072	239807301	8	20179											
MAP4K4	9448	broad.mit.edu	37	chr2	102440436	102440436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaatatgctaaagaaatActctcatcacagaaacattg	19	10	5	7	0	2	2	2	0	1	2	3	3	2	2	0	0	3	1	0	0	8	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:102440436A>T	ENST00000347699.4	+	4	227	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y76F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y76F|MAP4K4_ENST00000413150.2_Missense_Mutation_p.Y76F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y76F|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y76F|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y76F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y56F	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTAAAGAAATACTCTCATCAC	0.368																																						uc002tbc.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(226-228)tAc>tTc		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.							84	81	82					2																	102440436		1860	4099	5959	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102440436A>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.227A>T	2.37:g.102440436A>T	ENSP00000314363:p.Tyr76Phe					MAP4K4_uc002tbf.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbd.3_Missense_Mutation_p.Y76F|MAP4K4_uc010yvy.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbh.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbg.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbi.3_Missense_Mutation_p.Y76F|MAP4K4_uc010yvz.2_Missense_Mutation_p.Y56F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_5'Flank	p.Y76F	NM_145687	NP_001229488	O95819	M4K4_HUMAN			3	605	+			76			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.227A>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041107	0.75732	.	.	ENSG00000071054	ENST00000427603;ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T;T	0.64260	3.36;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;-0.09	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	N	0.03016	-0.435	0.80722	D	1	P;P;D;P;D;D;B;D;D	0.59767	0.644;0.702;0.965;0.592;0.965;0.986;0.405;0.957;0.957	P;P;D;B;D;D;P;D;D	0.77004	0.766;0.647;0.984;0.399;0.984;0.989;0.654;0.973;0.973	T	0.69745	-0.5062	10	0.42905	T	0.14	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	56;76;76;76;76;76;76;76;76	B7Z388;B7Z3V5;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;M4K4_HUMAN;.;.;.;.	F	76;76;76;76;76;76;76;76;38;56	ENSP00000403016:Y76F;ENSP00000392830:Y76F;ENSP00000313644:Y76F;ENSP00000281111:Y76F;ENSP00000303600:Y76F;ENSP00000389752:Y76F;ENSP00000387370:Y76F;ENSP00000314363:Y76F;ENSP00000409720:Y38F;ENSP00000343658:Y56F	ENSP00000303600:Y76F	Y	+	2	0	MAP4K4	101806868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.287000	0.95975	2.220000	0.72140	0.533000	0.62120	TAC		0.368	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		T	102440436	A	T	102440436	3	4	283	1	0	0	0	0	1	0	0	0	9262	391	14	5	241	5	MAP4K4	2	102440436	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	99048364	102440436	140758937	9	20180											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460197	107460197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgggcgcggggcagCgcctggcgtgcgtccaggcc	2	5	21	13	5	0	0	0	0	0	0	1	0	1	0	3	6	2	2	3	6	0	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:107460197C>T	ENST00000409382.3	-	2	847	c.237G>A	c.(235-237)gcG>gcA	p.A79A	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.A79A|ST6GAL2_ENST00000409087.3_Silent_p.A79A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	79					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.A79A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCGGGGCAGCGCCTGGCGTG	0.657																																						uc002tdq.3																			1	Substitution - coding silent(1)	p.A79A(2)|p.A79V(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(235-237)gcG>gcA		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							18	23	22					2																	107460197		2153	4207	6360	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460197C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.237G>A	2.37:g.107460197C>T						ST6GAL2_uc002tdr.3_Silent_p.A79A|ST6GAL2_uc002tds.3_Silent_p.A79A	p.A79A	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	356	-			79					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.237G>A	CCDS2073.1																																																																																				0.657	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460197	C	T	107460197	2	4	283	1	0	0	0	0	0	0	0	1	15221	755	27	1		1	ST6GAL2	2	107460197	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	5019761	107460197	135739176	10	20181											
GPR149	344758	broad.mit.edu	37	chr3	154139085	154139085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagagggcgtggtgctgaTttctacttttatagcattga	9	14	12	6	1	1	3	0	2	1	1	1	4	1	3	0	2	3	2	0	2	3	6			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr3:154139085T>C	ENST00000389740.2	-	3	1465	c.1366A>G	c.(1366-1368)Atc>Gtc	p.I456V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	456					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTGGTGCTGATTTCTACTTTT	0.393																																						uc003faa.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1366-1368)Atc>Gtc		Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.							254	244	247					3																	154139085		1965	4132	6097	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154139085T>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1366A>G	3.37:g.154139085T>C	ENSP00000374390:p.Ile456Val						p.I456V	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	1466	-			456						Missense_Mutation	SNP	ENST00000389740.2	37	c.1366A>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906243	0.33628	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.15	0.745	0.18359	.	0.209804	0.49305	D	0.000142	T	0.28466	0.0704	L	0.51422	1.61	0.24462	N	0.994431	B	0.09022	0.002	B	0.04013	0.001	T	0.27020	-1.0086	9	0.66056	D	0.02	-15.4784	0.4429	0.00489	0.3221:0.1833:0.1205:0.374	.	456	Q86SP6	GP149_HUMAN	V	456	.	ENSP00000374390:I456V	I	-	1	0	GPR149	155621779	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.593000	0.46180	0.390000	0.25115	0.372000	0.22366	ATC		0.393	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		C	154139085	T	C	154139085	3	2	283	1	0	0	0	0	1	0	0	0	6654	1493	52	4	837	4	GPR149	3	154139085	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		154139085	43883345	11	20182											
TNIK	23043	broad.mit.edu	37	chr3	170800078	170800078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagtccctctagcacaTccatctgctgaaatcgcctc	9	11	5	16	1	3	1	1	1	2	0	7	1	5	1	3	0	2	2	3	0	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr3:170800078T>G	ENST00000436636.2	-	27	3619	c.3275A>C	c.(3274-3276)gAt>gCt	p.D1092A	TNIK_ENST00000357327.5_Missense_Mutation_p.D1063A|TNIK_ENST00000475336.1_Missense_Mutation_p.D1000A|TNIK_ENST00000470834.1_Missense_Mutation_p.D1055A|TNIK_ENST00000284483.8_Missense_Mutation_p.D1084A|TNIK_ENST00000538048.1_Missense_Mutation_p.D1044A|TNIK_ENST00000488470.1_Missense_Mutation_p.D1037A|TNIK_ENST00000460047.1_Missense_Mutation_p.D1029A|TNIK_ENST00000369326.5_Missense_Mutation_p.D1070A|TNIK_ENST00000341852.6_Missense_Mutation_p.D1008A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1092	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCTAGCACATCCATCTGCTG	0.483																																						uc003fhh.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3274-3276)gAt>gCt		Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.							76	75	75					3																	170800078		1972	4171	6143	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170800078T>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3275A>C	3.37:g.170800078T>G	ENSP00000399511:p.Asp1092Ala					TNIK_uc003fhi.2_Missense_Mutation_p.D1037A|TNIK_uc003fhj.2_Missense_Mutation_p.D1063A|TNIK_uc003fhk.2_Missense_Mutation_p.D1084A|TNIK_uc003fhl.2_Missense_Mutation_p.D1008A|TNIK_uc003fhm.2_Missense_Mutation_p.D1029A|TNIK_uc003fhn.2_Missense_Mutation_p.D1055A|TNIK_uc003fho.2_Missense_Mutation_p.D1000A|TNIK_uc003fhg.2_Missense_Mutation_p.D270A|TNIK_uc003fhp.3_Missense_Mutation_p.D24A	p.D1092A	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3620	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1092			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3275A>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523113	0.85600	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69;3.69;3.69;3.69;3.69;3.69	5.79	5.79	0.91817	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	L	0.60455	1.87	0.80722	D	1	D;B;P;B;B;D;P;B;D	0.58970	0.984;0.221;0.76;0.221;0.221;0.965;0.76;0.221;0.972	P;B;B;B;B;P;P;B;P	0.61592	0.891;0.187;0.321;0.187;0.187;0.756;0.525;0.187;0.842	T	0.00061	-1.2160	10	0.87932	D	0	.	16.1278	0.81406	0.0:0.0:0.0:1.0	.	1044;1000;1055;1029;1008;1084;1063;1037;1092	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	A	1092;1070;1044;1008;1084;1000;1063;1029;1037;1055	ENSP00000399511:D1092A;ENSP00000358332:D1070A;ENSP00000443278:D1044A;ENSP00000345352:D1008A;ENSP00000284483:D1084A;ENSP00000418156:D1000A;ENSP00000349880:D1063A;ENSP00000418916:D1029A;ENSP00000418378:D1037A;ENSP00000419990:D1055A	ENSP00000284483:D1084A	D	-	2	0	TNIK	172282772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.977000	0.88081	2.213000	0.71641	0.533000	0.62120	GAT		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		G	170800078	T	G	170800078	3	3	283	1	0	0	0	0	1	0	0	0	16310	1435	50	5	835	5	TNIK	3	170800078	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	16660993	170800078	27222352	12	20183											
FYB	2533	broad.mit.edu	37	chr5	39153687	39153687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagttgttgagtaagaCgtctggcctttgctagtacc	9	12	13	7	1	1	2	0	1	1	1	1	3	1	3	2	2	2	5	2	2	4	6	rs375737931		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:39153687C>T	ENST00000351578.6	-	3	1345	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	FYB_ENST00000512982.1_Silent_p.T385T|FYB_ENST00000505428.1_Silent_p.T385T|FYB_ENST00000515010.1_Silent_p.T385T|FYB_ENST00000540520.1_Silent_p.T395T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	385	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTGAGTAAGACGTCTGGCCTT	0.468																																						uc003jls.3																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(1153-1155)acG>acA		Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.		C	,	0,4112		0,0,2056	205	215	211		1155,1155	-9.3	0	5		211	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,2,6249	TT,TC,CC		0.0238,0.0,0.016	,	385/830,385/784	39153687	2,12500	2056	4195	6251	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39153687C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1155G>A	5.37:g.39153687C>T						FYB_uc003jlt.3_Silent_p.T385T|FYB_uc003jlu.3_Silent_p.T385T|FYB_uc011cpl.2_Silent_p.T395T	p.T385T	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	1222	-	all_lung(31;0.000343)		385			Interaction with SKAP1.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.1155G>A	CCDS47200.1																																																																																				0.468	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		T	39153687	C	T	39153687	2	4	283	1	0	0	0	0	0	0	0	1	6124	523	19	1		1	FYB	5	39153687	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		39153687	141761573	13	20184											
IQGAP2	10788	broad.mit.edu	37	chr5	75998408	75998408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggaaaaggtgcaactcaAtattcaggtaagctgctgga	14	9	12	6	0	2	0	2	0	0	0	2	3	2	2	0	4	4	4	0	4	6	3	rs201167699		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:75998408A>G	ENST00000274364.6	+	35	4904	c.4607A>G	c.(4606-4608)aAt>aGt	p.N1536S	IQGAP2_ENST00000502745.1_Missense_Mutation_p.N1032S|IQGAP2_ENST00000379730.3_Missense_Mutation_p.N1038S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.N1032S|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1536					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTGCAACTCAATATTCAGGTA	0.353																																						uc003kek.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(4606-4608)aAt>aGt		Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.							104	101	102					5																	75998408		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75998408A>G	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4607A>G	5.37:g.75998408A>G	ENSP00000274364:p.Asn1536Ser					IQGAP2_uc011csv.2_Missense_Mutation_p.N1032S|IQGAP2_uc003kel.3_Missense_Mutation_p.N1032S	p.N1536S	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	34	4829	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1536					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.4607A>G	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176681	0.57692	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.02525	4.42;4.26;4.26;4.27	5.41	5.41	0.78517	.	0.047625	0.85682	D	0.000000	T	0.02767	0.0083	N	0.20766	0.605	0.40523	D	0.980851	B;B;B	0.23735	0.09;0.09;0.017	B;B;B	0.28916	0.096;0.096;0.017	T	0.52837	-0.8522	10	0.10636	T	0.68	-23.4397	15.4411	0.75184	1.0:0.0:0.0:0.0	.	1038;1032;1536	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	S	1536;1038;1032;1032	ENSP00000274364:N1536S;ENSP00000442313:N1038S;ENSP00000379535:N1032S;ENSP00000426027:N1032S	ENSP00000274364:N1536S	N	+	2	0	IQGAP2	76034164	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.287000	0.95975	2.060000	0.61445	0.533000	0.62120	AAT		0.353	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		G	75998408	A	G	75998408	3	3	283	1	0	0	0	0	1	0	0	0	7815	101	4	4	4745	4	IQGAP2	5	75998408	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	36844721	75998408	104916852	14	20185											
CEP120	153241	broad.mit.edu	37	chr5	122754205	122754205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggacgtttggggaaatgCcgacctggagaaacagaata	13	9	13	6	2	0	2	0	0	0	2	0	6	0	4	2	4	2	1	2	4	4	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:122754205C>T	ENST00000306467.5	-	2	358	c.54G>A	c.(52-54)cgG>cgA	p.R18R	CEP120_ENST00000306481.6_5'UTR|CEP120_ENST00000328236.5_Silent_p.R18R|CEP120_ENST00000395431.2_Silent_p.R18R|CEP120_ENST00000515110.1_Missense_Mutation_p.A55T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	18					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGGGAAATGCCGACCTGGAG	0.383																																						uc003ktk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(52-54)cgG>cgA		Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.							95	86	89					5																	122754205		1861	4095	5956	SO:0001819	synonymous_variant	153241					centrosome		g.chr5:122754205C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.54G>A	5.37:g.122754205C>T						CEP120_uc010jcz.2_5'UTR|CEP120_uc011cwq.2_5'UTR	p.R18R	NM_153223	NP_001159698	Q8N960	CE120_HUMAN			2	170	-			18					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	c.54G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366987	0.24771	.	.	ENSG00000168944	ENST00000515110	.	.	.	5.18	-2.21	0.06973	.	.	.	.	.	T	0.47525	0.1450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52373	-0.8584	5	0.87932	D	0	-4.8636	1.2262	0.01934	0.3503:0.1043:0.3403:0.205	.	.	.	.	T	55	.	ENSP00000428303:A55T	A	-	1	0	CEP120	122782104	0.255000	0.24002	0.992000	0.48379	0.712000	0.41017	-0.416000	0.07097	-0.297000	0.08934	-0.802000	0.03209	GCA		0.383	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		T	122754205	C	T	122754205	2	4	283	1	0	0	0	0	0	0	0	1	3246	726	26	3		3	CEP120	5	122754205	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	46755797	122754205	58161055	15	20186											
DSP	1832	broad.mit.edu	37	chr6	7565623	7565623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaggatggatcacctgcGacagctgcagaacatcattc	12	8	11	10	1	2	2	2	1	0	2	3	6	2	4	1	2	4	2	1	2	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:7565623G>A	ENST00000379802.3	+	7	1150	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	DSP_ENST00000418664.2_Missense_Mutation_p.R270Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	270	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCACCTGCGACAGCTGCAG	0.502																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(808-810)cGa>cAa		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							131	109	116					6																	7565623		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7565623G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.809G>A	6.37:g.7565623G>A	ENSP00000369129:p.Arg270Gln					DSP_uc003mxq.1_Missense_Mutation_p.R270Q|DSP_uc021yle.1_Missense_Mutation_p.R270Q	p.R270Q	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	6	1088	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	270			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.809G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319961	0.95682	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.91351	-2.83;-2.83	5.42	5.42	0.78866	.	0.000000	0.53938	D	0.000041	D	0.85539	0.5720	N	0.17674	0.51	0.54753	D	0.999983	D;D	0.89917	0.999;1.0	P;P	0.54629	0.679;0.757	D	0.83601	0.0128	10	0.16420	T	0.52	.	19.2336	0.93849	0.0:0.0:1.0:0.0	.	317;270	Q4LE79;P15924	.;DESP_HUMAN	Q	270;270;75	ENSP00000369129:R270Q;ENSP00000396591:R270Q	ENSP00000369129:R270Q	R	+	2	0	DSP	7510622	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	6.686000	0.74548	2.534000	0.85438	0.563000	0.77884	CGA		0.502	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7565623	G	A	7565623	3	1	283	1	0	0	0	0	1	0	0	0	4781	1058	37	2	835	2	DSP	6	7565623	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		7565623	163549444	16	20187											
DNAH8	1769	broad.mit.edu	37	chr6	38957817	38957817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaagatgtttgaaccGtcattctgcttttatactgg	10	15	10	6	1	2	3	1	2	1	2	2	4	2	3	1	1	3	2	1	1	4	5	rs143472136	byFrequency	TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:38957817G>A	ENST00000359357.3	+	86	12686	c.12432G>A	c.(12430-12432)ccG>ccA	p.P4144P	DNAH8_ENST00000441566.1_Silent_p.P4108P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4144					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTGAACCGTCATTCTGCT	0.368																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(13081-13083)ccG>ccA		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	155	146	149		13083	-5.6	0.4	6	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH8	NM_001206927.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4361/4708	38957817	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38957817G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12432G>A	6.37:g.38957817G>A						DNAH8_uc003ooe.2_Silent_p.P4144P	p.P4361P	NM_001206927	NP_001193856					87	13192	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.13083G>A																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38957817	G	A	38957817	2	1	283	1	0	0	0	0	0	0	0	1	4607	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	31392194	38957817	132157250	17	20188											
GSTA1	2938	broad.mit.edu	37	chr6	52658945	52658945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaaggcagggaagtagCgattttttattttctctttg	9	18	9	5	1	2	0	1	0	1	0	3	2	2	1	0	2	1	2	0	2	4	8	rs374431368		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:52658945C>T	ENST00000334575.5	-	5	547	c.392G>A	c.(391-393)cGc>cAc	p.R131H	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	131	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	AGGGAAGTAGCGATTTTTTAT	0.438																																						uc003paz.3																			0				large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(391-393)cGc>cAc		Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	C	HIS/ARG	0,4406		0,0,2203	248	245	246		392	0.7	0	6		246	1,8599	1.2+/-3.3	0,1,4299	no	missense	GSTA1	NM_145740.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	131/223	52658945	1,13005	2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52658945C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"Glutathione S-transferases / Soluble"	4626	protein-coding gene	gene with protein product		138359	"glutathione S-transferase A1"			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.392G>A	6.37:g.52658945C>T	ENSP00000335620:p.Arg131His					GSTA1_uc021zan.1_Missense_Mutation_p.R131H	p.R131H	NM_145740	NP_665683	P08263	GSTA1_HUMAN			4	504	-	Lung NSC(77;0.118)		131			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.392G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.374374	0.24857	0.0	1.16E-4	ENSG00000243955	ENST00000334575	T	0.02177	4.41	2.58	0.665	0.17896	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.064364	0.64402	N	0.000008	T	0.01287	0.0042	M	0.85777	2.775	0.09310	N	1	P	0.43024	0.798	B	0.35971	0.215	T	0.43376	-0.9395	10	0.51188	T	0.08	.	7.0109	0.24861	0.0:0.7509:0.0:0.2491	.	131	P08263	GSTA1_HUMAN	H	131	ENSP00000335620:R131H	ENSP00000335620:R131H	R	-	2	0	GSTA1	52766904	0.027000	0.19231	0.001000	0.08648	0.018000	0.09664	1.544000	0.36158	-0.177000	0.10690	0.195000	0.17529	CGC		0.438	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			T	52658945	C	T	52658945	3	4	283	1	0	0	0	0	1	0	0	0	6830	768	27	1	288	1	GSTA1	6	52658945	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	13701128	52658945	118456122	18	20189											
AKD1	221264	broad.mit.edu	37	chr6	109827537	109827537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgctatcttacctgctttTattctttccaggtatgtctg	6	19	7	9	0	3	0	0	0	3	0	4	0	4	0	2	1	3	3	2	1	4	7			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:109827537T>C	ENST00000424296.2	-	35	4918	c.4842A>G	c.(4840-4842)atA>atG	p.I1614M	AL109947.2_ENST00000517228.1_RNA|RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1614					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TACCTGCTTTTATTCTTTCCA	0.323																																						uc003ptn.2																			0				endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						c.(4840-4842)atA>atG		Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.							117	113	114					6																	109827537		2203	4299	6502	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109827537T>C	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4842A>G	6.37:g.109827537T>C	ENSP00000410186:p.Ile1614Met					AKD1_uc011eas.1_Missense_Mutation_p.I13M	p.I1614M	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			34	4919	-			1614					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.4842A>G	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.49|13.49	2.251712|2.251712	0.39797|0.39797	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000490722	T|.	0.68181|.	-0.31|.	5.01|5.01	2.33|2.33	0.28932|0.28932	.|.	0.147566|.	0.64402|.	D|.	0.000019|.	T|T	0.58935|0.58935	0.2157|0.2157	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D|.	0.60575|.	0.963;0.988|.	P;P|.	0.54664|.	0.755;0.758|.	T|T	0.60125|0.60125	-0.7324|-0.7324	9|5	.|.	.|.	.|.	.|.	11.4438|11.4438	0.50112|0.50112	0.0:0.0:0.286:0.714|0.0:0.0:0.286:0.714	.|.	13;1614|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	M|E	1614|29	ENSP00000410186:I1614M|.	.|.	I|K	-|-	3|1	3|0	AKD1|AKD1	109934230|109934230	0.806000|0.806000	0.28996|0.28996	1.000000|1.000000	0.80357|0.80357	0.787000|0.787000	0.44495|0.44495	0.864000|0.864000	0.27926|0.27926	0.812000|0.812000	0.34326|0.34326	0.533000|0.533000	0.62120|0.62120	ATA|AAA		0.323	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		C	109827537	T	C	109827537	3	2	283	1	0	0	0	0	1	0	0	0	460	1744	61	4	921	4	AKD1	6	109827537	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	57168592	109827537	61287530	19	20190											
MIOS	54468	broad.mit.edu	37	chr7	7612689	7612689	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctttgttggcttccaCgagaccagaaacttctcctt	7	15	7	12	1	2	2	0	0	2	2	5	3	3	2	3	1	1	2	3	1	1	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:7612689C>T	ENST00000340080.4	+	4	1004	c.583C>T	c.(583-585)Cga>Tga	p.R195*	MIOS_ENST00000405785.1_Nonsense_Mutation_p.R195*	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	195						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCTTCCACGAGACCAGAA	0.383																																						uc003srf.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(583-585)Cga>Tga		Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.							51	47	48					7																	7612689		1902	4127	6029	SO:0001587	stop_gained	54468							g.chr7:7612689C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.583C>T	7.37:g.7612689C>T	ENSP00000339881:p.Arg195*					MIOS_uc010ktp.1_Nonsense_Mutation_p.R195*	p.R195*	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			3	891	+			195					B2RTV6|O75216|Q7L551|Q9H092	Nonsense_Mutation	SNP	ENST00000340080.4	37	c.583C>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	37	6.064515	0.97251	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	.	.	.	5.85	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-9.9939	14.2093	0.65755	0.3924:0.6076:0.0:0.0	.	.	.	.	X	195	.	ENSP00000339881:R195X	R	+	1	2	MIOS	7579214	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.267000	0.43329	0.887000	0.36136	0.655000	0.94253	CGA		0.383	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		T	7612689	C	T	7612689	4	4	283	1	0	0	0	0	0	1	0	0	9589	528	19	1	585	1	MIOS	7	7612689	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08		7612689	151525974	20	20191											
ABCA13	154664	broad.mit.edu	37	chr7	48450229	48450229	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtcctcccttctgcctGaaggaggcatatggccaggg	6	9	14	12	1	1	1	0	1	1	0	3	2	3	2	4	5	2	1	4	5	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:48450229G>T	ENST00000435803.1	+	40	12207	c.12183G>T	c.(12181-12183)ctG>ctT	p.L4061L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4061	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTTCTGCCTGAAGGAGGCAT	0.582																																						uc003toq.2																			0		p.T4060S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12181-12183)ctG>ctT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							116	116	116					7																	48450229		2056	4201	6257	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48450229G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12183G>T	7.37:g.48450229G>T						ABCA13_uc010kys.1_Silent_p.L1135L|ABCA13_uc010kyt.1_Non-coding_Transcript	p.L4061L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			39	12207	+			4061			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.12183G>T	CCDS47584.1																																																																																				0.582	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48450229	G	T	48450229	2	4	283	1	0	0	0	0	0	0	0	1	31	1277	45	5		5	ABCA13	7	48450229	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	40837540	48450229	110688434	21	20192											
POM121L12	285877	broad.mit.edu	37	chr7	53104048	53104048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggagcggttgcttcCttcgtgcccaggccagggcc	8	8	13	12	2	0	0	0	0	0	0	2	1	1	1	4	4	3	2	4	4	2	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:53104048C>A	ENST00000408890.4	+	1	700	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	228										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTTGCTTCCTTCGTGCCCA	0.637																																						uc003tpz.3																			0		p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(682-684)tcC>tcA		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							45	53	50					7																	53104048		1963	4132	6095	SO:0001819	synonymous_variant	285877							g.chr7:53104048C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.684C>A	7.37:g.53104048C>A							p.S228S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	700	+			228					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.684C>A	CCDS43584.1																																																																																				0.637	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53104048	C	A	53104048	2	1	283	1	0	0	0	0	0	0	0	1	12241	668	24	5		5	POM121L12	7	53104048	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	4653819	53104048	106034615	22	20193											
NSUN5	55695	broad.mit.edu	37	chr7	72717906	72717906	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggagcacgtggagtagacGagccgctgcagggaagggaa	12	3	19	7	3	0	1	0	0	0	1	0	6	0	5	1	4	3	4	1	4	3	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:72717906G>A	ENST00000252594.6	-	8	1077	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	NSUN5_ENST00000438747.2_Silent_p.L354L|NSUN5_ENST00000310326.8_Silent_p.L354L|NSUN5_ENST00000428206.1_Silent_p.L316L			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	354					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGAGTAGACGAGCCGCTGCA	0.677																																						uc003txw.3																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1060-1062)ctC>ctT		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.							32	35	34					7																	72717906		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72717906G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1062C>T	7.37:g.72717906G>A						FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.L354L|NSUN5_uc003txv.3_Silent_p.L354L|NSUN5_uc003txx.3_Silent_p.L316L	p.L354L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			7	1139	-		Lung NSC(55;0.163)	354					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.1062C>T	CCDS5547.1																																																																																				0.677	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		A	72717906	G	A	72717906	2	1	283	1	0	0	0	0	0	0	0	1	10681	1045	37	2		2	NSUN5	7	72717906	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	19613858	72717906	86420757	23	20194											
EPHB6	2051	broad.mit.edu	37	chr7	142566033	142566033	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatcgacccctccacctaCgaggacccctgtcaggccat	9	7	7	18	2	1	0	1	0	0	0	3	3	2	1	7	2	2	0	7	2	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:142566033C>T	ENST00000392957.2	+	14	2740	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y	EPHB6_ENST00000442129.1_Silent_p.Y651Y|EPHB6_ENST00000411471.2_Silent_p.Y374Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	651						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTCCACCTACGAGGACCCCT	0.577																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1951-1953)taC>taT		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							108	101	104					7																	142566033		2203	4300	6503	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566033C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1953C>T	7.37:g.142566033C>T						EPHB6_uc011ksu.2_Silent_p.Y651Y|EPHB6_uc003wbs.3_Silent_p.Y359Y|EPHB6_uc003wbt.3_Silent_p.Y125Y|EPHB6_uc003wbu.3_Silent_p.Y359Y|EPHB6_uc003wbv.3_Silent_p.Y35Y	p.Y651Y	NM_004445	NP_004436	O15197	EPHB6_HUMAN			13	2740	+	Melanoma(164;0.059)		651					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1953C>T	CCDS5873.2																																																																																				0.577	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142566033	C	T	142566033	2	4	283	1	0	0	0	0	0	0	0	1	5178	547	19	1		1	EPHB6	7	142566033	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	69848127	142566033	16572630	24	20195											
FAM110B	90362	broad.mit.edu	37	chr8	59059474	59059474	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgcctcccaagcccAaaatcgcagccatcgcctcc	8	6	5	22	2	0	0	0	0	0	0	5	0	3	0	8	0	3	1	8	0	3	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr8:59059474A>C	ENST00000361488.3	+	5	1565	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	229						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCCCAAGCCCAAAATCGCAGC	0.632																																						uc022auu.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(685-687)Aaa>Caa		Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.							78	84	82					8																	59059474		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059474A>C	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.685A>C	8.37:g.59059474A>C	ENSP00000355204:p.Lys229Gln					FAM110B_uc003xtj.1_Missense_Mutation_p.K229Q	p.K229Q	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			0	685	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	229					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.685A>C	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894274	0.33442	.	.	ENSG00000169122	ENST00000361488	T	0.31247	1.5	5.39	5.39	0.77823	.	0.098189	0.64402	D	0.000002	T	0.23171	0.0560	L	0.27053	0.805	0.49687	D	0.999818	P	0.43477	0.808	B	0.39119	0.291	T	0.02617	-1.1133	9	.	.	.	-22.1023	15.3808	0.74654	1.0:0.0:0.0:0.0	.	229	Q8TC76	F110B_HUMAN	Q	229	ENSP00000355204:K229Q	.	K	+	1	0	FAM110B	59222028	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.828000	0.55753	2.019000	0.59389	0.459000	0.35465	AAA		0.632	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		C	59059474	A	C	59059474	3	2	283	1	0	0	0	0	1	0	0	0	5397	131	5	5	687	5	FAM110B	8	59059474	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		59059474	87304548	25	20196											
MYBL1	4603	broad.mit.edu	37	chr8	67507922	67507922	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgattttattccatcttGtaaatagccctcctgttcca	8	18	4	11	0	2	1	0	1	2	0	5	1	5	1	4	0	1	2	4	0	4	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr8:67507922G>A	ENST00000522677.3	-	6	993	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Nonsense_Mutation_p.Q195*	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	195					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTCCATCTTGTAAATAGCCC	0.343																																						uc003xwj.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(583-585)Caa>Taa		Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.							182	165	170					8																	67507922		1847	4082	5929	SO:0001587	stop_gained	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67507922G>A	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.583C>T	8.37:g.67507922G>A	ENSP00000429633:p.Gln195*					MYBL1_uc003xwl.3_Nonsense_Mutation_p.Q195*|MYBL1_uc003xwk.3_Nonsense_Mutation_p.Q195*	p.Q195*	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		5	990	-			195					E7EW29|Q495F9	Nonsense_Mutation	SNP	ENST00000522677.3	37	c.583C>T	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	G	40	8.362113	0.98777	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-12.6774	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000429633:Q195X	Q	-	1	0	MYBL1	67670476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.750000	0.94351	0.655000	0.94253	CAA		0.343	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		A	67507922	G	A	67507922	4	1	283	1	0	0	0	0	0	1	0	0	10009	1386	48	3	1719	3	MYBL1	8	67507922	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	8448448	67507922	78856100	26	20197											
NOL8	55035	broad.mit.edu	37	chr9	95077750	95077750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaacattttttttcatcGcaataatttcatctgtatct	11	19	3	8	1	4	0	2	0	2	0	5	0	4	0	0	0	2	3	0	0	5	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:95077750G>A	ENST00000535387.1	-	6	1156	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	NOL8_ENST00000442668.2_Missense_Mutation_p.A386V|NOL8_ENST00000542053.1_Missense_Mutation_p.A318V|NOL8_ENST00000358855.4_Missense_Mutation_p.A318V|NOL8_ENST00000545558.1_Missense_Mutation_p.A386V					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTTTTCATCGCAATAATTTC	0.323																																						uc022bjx.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1156-1158)gCg>gTg		Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.							53	44	47					9																	95077750		1843	4085	5928	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077750G>A	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1157C>T	9.37:g.95077750G>A	ENSP00000441300:p.Ala386Val					NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.A318V	p.A386V	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			6	1494	-			386						Missense_Mutation	SNP	ENST00000535387.1	37	c.1157C>T	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939182	0.52972	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.60171	1.7;1.73;1.7;1.88;1.73;1.39;0.21	5.63	4.74	0.60224	.	0.226352	0.45867	N	0.000325	T	0.63082	0.2481	L	0.43923	1.385	0.36187	D	0.849808	D	0.71674	0.998	P	0.55345	0.774	T	0.72880	-0.4158	10	0.62326	D	0.03	-6.815	14.8263	0.70117	0.0691:0.0:0.9309:0.0	.	386	Q76FK4	NOL8_HUMAN	V	386;388;318;386;386;318;386;386	ENSP00000401177:A386V;ENSP00000351723:A318V;ENSP00000441140:A386V;ENSP00000441300:A386V;ENSP00000440709:A318V;ENSP00000414112:A386V;ENSP00000412471:A386V	ENSP00000351723:A318V	A	-	2	0	NOL8	94117571	1.000000	0.71417	0.825000	0.32803	0.664000	0.39144	5.387000	0.66243	1.387000	0.46486	-0.173000	0.13275	GCG		0.323	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		A	95077750	G	A	95077750	3	1	283	1	0	0	0	0	1	0	0	0	10527	1087	38	1	2390	1	NOL8	9	95077750	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		95077750	46135681	27	20198											
PALM2	114299	broad.mit.edu	37	chr9	112687347	112687347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcctacagggtttcTccagtacggatggaggtaag	8	14	12	7	1	1	0	0	0	1	0	3	2	2	2	2	4	2	4	2	4	3	7			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:112687347T>C	ENST00000374531.2	+	6	459	c.385T>C	c.(385-387)Tcc>Ccc	p.S129P	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S127P|AKAP2_ENST00000555236.1_Missense_Mutation_p.S127P|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S127P|PALM2_ENST00000483909.1_Missense_Mutation_p.S127P|PALM2_ENST00000448454.2_Missense_Mutation_p.S129P|AKAP2_ENST00000510514.5_Missense_Mutation_p.S127P|PALM2_ENST00000314527.4_Missense_Mutation_p.S127P	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	129					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						ACAGGGTTTCTCCAGTACGGA	0.463																																						uc004bei.2																			0		p.S127Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(379-381)Tcc>Ccc		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							231	197	208					9																	112687347		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112687347T>C	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.385T>C	9.37:g.112687347T>C	ENSP00000363656:p.Ser129Pro					PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.S129P|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bel.1_5'UTR	p.S127P	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			4	571	+			0					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.379T>C	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185983	0.57909	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.32515	2.27;2.3;2.27;2.3;1.45;2.13;2.3;2.13;2.13;2.13	5.42	4.26	0.50523	.	0.865894	0.09880	N	0.743803	T	0.37839	0.1018	L	0.29908	0.895	0.31971	N	0.607136	D;D;P;P	0.55385	0.971;0.971;0.566;0.917	P;P;P;P	0.55455	0.776;0.776;0.478;0.569	T	0.40136	-0.9579	10	0.87932	D	0	-0.1798	10.8561	0.46800	0.0:0.0:0.158:0.842	.	127;127;129;129	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	P	129;129;127;127;113;127;127;127;127;127	ENSP00000363656:S129P;ENSP00000400206:S129P;ENSP00000417525:S127P;ENSP00000323805:S127P;ENSP00000419747:S113P;ENSP00000363654:S127P;ENSP00000397839:S127P;ENSP00000305861:S127P;ENSP00000451476:S127P;ENSP00000421522:S127P	ENSP00000305861:S127P	S	+	1	0	PALM2-AKAP2;PALM2;AKAP2	111727168	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.760000	0.47581	0.973000	0.38340	0.533000	0.62120	TCC		0.463	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		C	112687347	T	C	112687347	3	2	283	1	0	0	0	0	1	0	0	0	11409	1551	54	4	407	4	PALM2	9	112687347	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	17609597	112687347	28526084	28	20199											
CEL	1056	broad.mit.edu	37	chr9	135945919	135945919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccccaaatgggtgggggCcgaccatgcagatgacattc	10	7	12	12	1	0	2	0	1	0	1	1	3	0	2	4	3	2	1	4	3	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:135945919C>T	ENST00000372080.4	+	10	1383	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	453					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGTGGGGGCCGACCATGCA	0.607																																						uc010naa.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1366-1368)gCc>gTc		Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.							80	86	84					9																	135945919		1931	4124	6055	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135945919C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1367C>T	9.37:g.135945919C>T	ENSP00000361151:p.Ala456Val						p.A456V	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	9	1383	+			453					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1367C>T	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432891	0.83776	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.59502	0.26	5.72	5.72	0.89469	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61724	-0.7004	10	0.17369	T	0.5	.	18.8638	0.92283	0.0:1.0:0.0:0.0	.	453	P19835	CEL_HUMAN	V	456;455	ENSP00000361151:A456V	ENSP00000304021:A455V	A	+	2	0	CEL	134935740	1.000000	0.71417	0.958000	0.39756	0.139000	0.21198	7.414000	0.80117	2.703000	0.92315	0.478000	0.44815	GCC		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			T	135945919	C	T	135945919	3	4	283	1	0	0	0	0	1	0	0	0	3209	739	26	3	1405	3	CEL	9	135945919	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	23258572	135945919	5267512	29	20200											
ZNF37A	7587	broad.mit.edu	37	chr10	38407548	38407548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcaccagagaactcataTaagacagaaaccctatggat	16	9	7	9	0	2	3	2	0	0	3	2	5	2	4	2	1	2	1	2	1	5	4	rs201777153		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr10:38407548T>C	ENST00000361085.5	+	7	1814	c.1469T>C	c.(1468-1470)aTa>aCa	p.I490T	ZNF37A_ENST00000351773.3_Missense_Mutation_p.I490T	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAACTCATATAAGACAGAAA	0.413																																						uc001izk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1468-1470)aTa>aCa		Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.							59	59	59					10																	38407548		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407548T>C	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1469T>C	10.37:g.38407548T>C	ENSP00000354377:p.Ile490Thr					ZNF37A_uc001izl.3_Missense_Mutation_p.I490T|ZNF37A_uc001izm.3_Missense_Mutation_p.I490T	p.I490T	NM_001007094	NP_003412	P17032	ZN37A_HUMAN			7	2299	+			490					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1469T>C	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.944340	0.00052	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.00995	5.46;5.46	2.34	-3.36	0.04913	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00271	0.0008	N	0.00205	-1.85	0.22581	N	0.998965	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	9	0.02654	T	1	.	4.59	0.12302	0.0:0.3785:0.3937:0.2278	.	490	P17032	ZN37A_HUMAN	T	490	ENSP00000329141:I490T;ENSP00000354377:I490T	ENSP00000329141:I490T	I	+	2	0	ZNF37A	38447554	0.005000	0.15991	0.226000	0.23910	0.154000	0.21943	0.399000	0.20916	-0.691000	0.05135	-1.272000	0.01410	ATA		0.413	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		C	38407548	T	C	38407548	3	2	283	1	0	0	0	0	1	0	0	0	17869	1406	49	4	1483	4	ZNF37A	10	38407548	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		38407548	97127199	30	20201											
PGR	5241	broad.mit.edu	37	chr11	100999671	100999671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgaaacttcaggcaagGtgtccgaggtctggctcccc	7	8	13	13	2	2	0	1	0	1	0	4	2	4	0	4	5	1	2	4	5	2	1	rs141862537		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr11:100999671G>T	ENST00000325455.5	-	1	1584	c.131C>A	c.(130-132)aCc>aAc	p.T44N	PGR_ENST00000263463.5_Missense_Mutation_p.T44N|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	44	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCAGGCAAGGTGTCCGAGGT	0.692																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(130-132)aCc>aAc		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						37	29	31					11																	100999671		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999671G>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.131C>A	11.37:g.100999671G>T	ENSP00000325120:p.Thr44Asn					PGR_uc001pgi.2_Missense_Mutation_p.T44N|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	p.T44N	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	0	874	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	44			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.131C>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	4.728	0.135385	0.09032	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.07688	3.17;3.17	4.53	-0.233	0.13078	.	1.340710	0.05130	N	0.492346	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B	0.23990	0.095;0.095	B;B	0.17433	0.018;0.018	T	0.41305	-0.9516	10	0.54805	T	0.06	.	1.0784	0.01638	0.2074:0.159:0.4336:0.2001	.	44;44	Q8TDS3;P06401	.;PRGR_HUMAN	N	44	ENSP00000325120:T44N;ENSP00000263463:T44N	ENSP00000263463:T44N	T	-	2	0	PGR	100504881	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.594000	0.24014	-0.009000	0.14296	0.561000	0.74099	ACC		0.692	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			T	100999671	G	T	100999671	3	4	283	1	0	0	0	0	1	0	0	0	11805	1261	44	5	2702	5	PGR	11	100999671	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		100999671	34006845	31	20202											
COL2A1	1280	broad.mit.edu	37	chr12	48371798	48371798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcactgctcacctctcGtccaggttcacctgcaggac	6	10	9	16	1	4	0	3	0	2	0	7	1	5	1	3	3	2	3	3	3	0	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:48371798G>A	ENST00000380518.3	-	44	3270	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	COL2A1_ENST00000337299.6_Nonsense_Mutation_p.R967*|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1036	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCACCTCTCGTCCAGGTTCA	0.662																																						uc001rqu.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64	GRCh37	CM062563	COL2A1	M	rs145684327	c.(3106-3108)Cga>Tga		Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	Collagenase(DB00048)						34	36	35					12																	48371798		2203	4300	6503	SO:0001587	stop_gained	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48371798G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3106C>T	12.37:g.48371798G>A	ENSP00000369889:p.Arg1036*					COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Nonsense_Mutation_p.R967*	p.R1036*	NM_001844	NP_001835	P02458	CO2A1_HUMAN			43	3287	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1036			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Nonsense_Mutation	SNP	ENST00000380518.3	37	c.3106C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	43	10.452940	0.99408	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	.	.	.	5.39	4.48	0.54585	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2554	0.66048	0.0:0.0:0.8496:0.1504	.	.	.	.	X	1036;967;967	.	ENSP00000338213:R967X	R	-	1	2	COL2A1	46658065	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.461000	0.45040	1.223000	0.43536	0.563000	0.77884	CGA		0.662	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48371798	G	A	48371798	4	1	283	1	0	0	0	0	0	1	0	0	3687	1153	40	1	1401	1	COL2A1	12	48371798	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		48371798	85480097	32	20203											
GLT8D2	83468	broad.mit.edu	37	chr12	104390580	104390580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctgagaaagccgccGcgtggcccagggccaaggtg	9	5	15	12	3	2	1	1	1	1	1	2	2	2	1	4	3	1	0	4	3	2	0	rs373952967		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:104390580G>A	ENST00000360814.4	-	8	938	c.533C>T	c.(532-534)gCg>gTg	p.A178V	GLT8D2_ENST00000548660.1_Missense_Mutation_p.A178V|GLT8D2_ENST00000546436.1_Missense_Mutation_p.A178V	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	178						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAAAGCCGCCGCGTGGCCCAG	0.483																																						uc001tkh.1																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(532-534)gCg>gTg		Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	100	103	102		533	5.1	0.4	12		102	0,8600		0,0,4300	no	missense	GLT8D2	NM_031302.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	178/350	104390580	1,13005	2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104390580G>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.533C>T	12.37:g.104390580G>A	ENSP00000354053:p.Ala178Val					GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	p.A178V	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			7	1090	-			178					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.533C>T	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371150	0.42003	2.27E-4	0.0	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.36699	1.24;1.24;1.24	5.13	5.13	0.70059	.	0.052669	0.85682	D	0.000000	T	0.18045	0.0433	N	0.20483	0.58	0.80722	D	1	P	0.52692	0.955	B	0.38327	0.271	T	0.13980	-1.0489	10	0.02654	T	1	.	12.0178	0.53324	0.0791:0.0:0.9209:0.0	.	178	Q9H1C3	GL8D2_HUMAN	V	178	ENSP00000354053:A178V;ENSP00000449750:A178V;ENSP00000447450:A178V	ENSP00000354053:A178V	A	-	2	0	GLT8D2	102914710	1.000000	0.71417	0.428000	0.26697	0.778000	0.44026	7.962000	0.87912	2.385000	0.81259	0.563000	0.77884	GCG		0.483	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		A	104390580	G	A	104390580	3	1	283	1	0	0	0	0	1	0	0	0	6470	1087	38	1	532	1	GLT8D2	12	104390580	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	56018782	104390580	29461315	33	20204											
CUX2	23316	broad.mit.edu	37	chr12	111772341	111772341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcctgtccctggagaGcagcaaggagaaccagcagc	11	5	14	11	0	0	3	0	1	0	2	1	5	1	3	3	2	6	4	3	2	2	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:111772341G>A	ENST00000261726.6	+	19	3177	c.3023G>A	c.(3022-3024)aGc>aAc	p.S1008N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1008					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCCTGGAGAGCAGCAAGGAG	0.647																																						uc001tsa.2																			0		p.E1007D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3022-3024)aGc>aAc		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							33	40	38					12																	111772341		2012	4173	6185	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111772341G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3023G>A	12.37:g.111772341G>A	ENSP00000261726:p.Ser1008Asn						p.S1008N	NM_015267	NP_056082	O14529	CUX2_HUMAN			18	3177	+			1008					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3023G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590712	0.66219	.	.	ENSG00000111249	ENST00000261726	T	0.48201	0.82	5.09	4.19	0.49359	.	0.079792	0.85682	D	0.000000	T	0.37919	0.1021	L	0.32530	0.975	0.54753	D	0.999988	B	0.31383	0.321	B	0.29663	0.105	T	0.18587	-1.0332	10	0.37606	T	0.19	-14.6805	15.5784	0.76410	0.0:0.1386:0.8614:0.0	.	1008	O14529	CUX2_HUMAN	N	1008	ENSP00000261726:S1008N	ENSP00000261726:S1008N	S	+	2	0	CUX2	110256724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.886000	0.87288	1.260000	0.44134	0.655000	0.94253	AGC		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111772341	G	A	111772341	3	1	283	1	0	0	0	0	1	0	0	0	4065	971	34	3	3097	3	CUX2	12	111772341	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	7381761	111772341	22079554	34	20205											
ABCC4	10257	broad.mit.edu	37	chr13	95705392	95705392	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatccgtgtgctcattaAagggatccaggtttttcctc	7	14	8	12	1	2	0	2	0	0	0	6	1	5	1	4	2	1	2	4	2	2	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr13:95705392A>C	ENST00000376887.4	-	27	3527	c.3413T>G	c.(3412-3414)tTt>tGt	p.F1138C	ABCC4_ENST00000412704.1_Missense_Mutation_p.F1091C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1138	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GTGCTCATTAAAGGGATCCAG	0.373																																						uc001vmd.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3412-3414)tTt>tGt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	Cefazolin(DB01327)						156	138	144					13																	95705392		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95705392A>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3413T>G	13.37:g.95705392A>C	ENSP00000366084:p.Phe1138Cys					ABCC4_uc010afj.3_Missense_Mutation_p.F22C|ABCC4_uc010afk.3_Missense_Mutation_p.F1091C	p.F1138C	NM_005845	NP_005836	O15439	MRP4_HUMAN			26	3532	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1138			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3413T>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239882	0.79912	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90620	-2.7;-2.7	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.67625	2.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.997;0.999	D	0.95136	0.8259	10	0.87932	D	0	.	16.1713	0.81820	1.0:0.0:0.0:0.0	.	1091;728;1138	O15439-2;O75555;O15439	.;.;MRP4_HUMAN	C	1091;1138	ENSP00000388657:F1091C;ENSP00000366084:F1138C	ENSP00000366084:F1138C	F	-	2	0	ABCC4	94503393	1.000000	0.71417	0.995000	0.50966	0.803000	0.45373	8.957000	0.93082	2.221000	0.72209	0.528000	0.53228	TTT		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		C	95705392	A	C	95705392	3	2	283	1	0	0	0	0	1	0	0	0	55	14	1	5	584	5	ABCC4	13	95705392	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		95705392	19464486	35	20206											
TEP1	7011	broad.mit.edu	37	chr14	20846241	20846241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcaggaaaagcgcagcaGcaacaaagccatggtgggca	15	3	13	10	1	0	0	0	0	0	0	0	1	0	1	1	3	6	5	1	3	4	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:20846241G>A	ENST00000262715.5	-	39	5703	c.5663C>T	c.(5662-5664)gCt>gTt	p.A1888V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1780V|TEP1_ENST00000545983.1_Missense_Mutation_p.A226V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1888					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGCGCAGCAGCAACAAAGCC	0.632																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5662-5664)gCt>gTt		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							88	86	87					14																	20846241		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846241G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5663C>T	14.37:g.20846241G>A	ENSP00000262715:p.Ala1888Val					TEP1_uc010ahk.3_Missense_Mutation_p.A1231V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1780V|TEP1_uc010tlh.1_Missense_Mutation_p.A226V	p.A1888V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	38	5703	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1888					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5663C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	7.138	0.581172	0.13686	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.59772	0.24;0.24;0.24	5.48	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.693990	0.14988	N	0.286855	T	0.33206	0.0855	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14438	0.003;0.004;0.01;0.005	B;B;B;B	0.15052	0.008;0.005;0.01;0.012	T	0.18178	-1.0345	10	0.12430	T	0.62	-0.0093	9.7615	0.40534	0.1634:0.0:0.8366:0.0	.	226;1780;1231;1888	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1888;1888;1780;226	ENSP00000262715:A1888V;ENSP00000452574:A1780V;ENSP00000438849:A226V	ENSP00000262715:A1888V	A	-	2	0	TEP1	19916081	0.012000	0.17670	0.001000	0.08648	0.242000	0.25591	1.877000	0.39598	0.688000	0.31529	0.557000	0.71058	GCT		0.632	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20846241	G	A	20846241	3	1	283	1	0	0	0	0	1	0	0	0	15756	971	34	3	2288	3	TEP1	14	20846241	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		20846241	86503299	36	20207											
MGAT2	4247	broad.mit.edu	37	chr14	50089072	50089072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttgtcttccaaaattctgGaaagtgctggttcctcaaat	10	15	7	9	0	4	0	1	0	3	0	6	1	6	1	2	2	1	2	2	2	4	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:50089072G>A	ENST00000305386.2	+	1	1584	c.1086G>A	c.(1084-1086)tgG>tgA	p.W362*	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	362					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CAAAATTCTGGAAAGTGCTGG	0.423																																						uc001wwr.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(1084-1086)tgG>tgA		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.							125	122	123					14																	50089072		2203	4300	6503	SO:0001587	stop_gained	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50089072G>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.1086G>A	14.37:g.50089072G>A	ENSP00000307423:p.Trp362*					NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	p.W362*	NM_002408	NP_002399	Q10469	MGAT2_HUMAN			0	1584	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		362					B3KPC5|B3KQM0	Nonsense_Mutation	SNP	ENST00000305386.2	37	c.1086G>A	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	G	39	7.424078	0.98275	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	.	.	.	5.61	4.71	0.59529	.	0.160850	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-8.3904	15.942	0.79763	0.0:0.0:0.8639:0.1361	.	.	.	.	X	362;368	.	ENSP00000307423:W362X	W	+	3	0	MGAT2	49158822	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.412000	0.73303	1.363000	0.46019	-0.324000	0.08512	TGG		0.423	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		A	50089072	G	A	50089072	4	1	283	1	0	0	0	0	0	1	0	0	9543	1183	41	3	1088	3	MGAT2	14	50089072	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	29242831	50089072	57260468	37	20208											
SFRS5	6430	broad.mit.edu	37	chr14	70237710	70237710	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggctgttttccattttAgggtggttgagtttgcctct	5	18	12	6	0	1	1	0	1	1	0	2	1	2	1	2	3	1	4	2	3	2	6			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:70237710A>T	ENST00000553521.1	+	8	1893		c.e8-1		SRSF5_ENST00000557154.1_Splice_Site|SRSF5_ENST00000394366.2_Splice_Site|SRSF5_ENST00000553635.1_Splice_Site|SRSF5_ENST00000556587.1_Splice_Site			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						TTTCCATTTTAGGGTGGTTGA	0.348																																						uc001xll.3																			0				large_intestine(1)|liver(1)	2						c.e8-2		Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.							115	111	112					14																	70237710		2203	4300	6503	SO:0001630	splice_region_variant	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70237710A>T	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.441-1A>T	14.37:g.70237710A>T						SRSF5_uc001xlo.3_Splice_Site_p.G147_splice|SRSF5_uc001xlp.3_Splice_Site_p.G147_splice	p.G147_splice	NM_006925	NP_008856	Q13243	SRSF5_HUMAN			8	1892	+			147			RRM 2.		O14797|Q16662|Q49AD6|Q6FGE0	Splice_Site	SNP	ENST00000553521.1	37	c.441_splice	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724070	0.48728	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1021	0.81178	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF5	69307463	1.000000	0.71417	0.957000	0.39632	0.665000	0.39181	9.310000	0.96267	2.210000	0.71456	0.533000	0.62120	.		0.348	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465	Intron	T	70237710	A	T	70237710	5	4	283	1	0	0	0	0	0	0	1	0	14180	434	15	5	461	5	SFRS5	14	70237710	Splice_Site	SNP	A	TCGA-87-5896-01A-01D-1696-08	20148638	70237710	37111830	38	20209											
UBR1	197131	broad.mit.edu	37	chr15	43269028	43269028	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagatcaacagggtcaTcccaatacaaggatgggaat	14	7	11	9	0	2	1	2	0	0	1	3	3	3	3	1	3	3	2	1	3	5	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:43269028T>A	ENST00000290650.4	-	39	4334	c.4256A>T	c.(4255-4257)gAt>gTt	p.D1419V	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1419					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACAGGGTCATCCCAATACAA	0.388																																						uc001zqq.3																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(4255-4257)gAt>gTt		Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.							130	108	115					15																	43269028		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43269028T>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4256A>T	15.37:g.43269028T>A	ENSP00000290650:p.Asp1419Val						p.D1419V	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	38	4322	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1419					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4256A>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525582	0.64860	.	.	ENSG00000159459	ENST00000290650	T	0.46819	0.86	5.2	5.2	0.72013	.	0.049879	0.85682	D	0.000000	T	0.39655	0.1086	L	0.47716	1.5	0.80722	D	1	P	0.49961	0.93	B	0.38428	0.273	T	0.29181	-1.0020	10	0.29301	T	0.29	-12.4925	15.0106	0.71547	0.0:0.0:0.0:1.0	.	1419	Q8IWV7	UBR1_HUMAN	V	1419	ENSP00000290650:D1419V	ENSP00000290650:D1419V	D	-	2	0	UBR1	41056320	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.085000	0.76875	2.082000	0.62665	0.477000	0.44152	GAT		0.388	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		A	43269028	T	A	43269028	3	1	283	1	0	0	0	0	1	0	0	0	16898	1435	50	5	1029	5	UBR1	15	43269028	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		43269028	59262364	39	20210											
EDC3	80153	broad.mit.edu	37	chr15	74925078	74925078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatacggcctgcgtgctcccCcagtggcagaggcaggccca	7	5	14	15	2	0	1	0	0	0	1	1	2	1	1	4	4	3	3	4	4	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:74925078C>A	ENST00000315127.4	-	7	1583	c.1402G>T	c.(1402-1404)Ggg>Tgg	p.G468W	EDC3_ENST00000426797.3_Missense_Mutation_p.G468W|EDC3_ENST00000568176.1_Missense_Mutation_p.G468W	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	468	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCGTGCTCCCCCAGTGGCAGA	0.577											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ayn.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1402-1404)Ggg>Tgg		Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.							77	67	71					15																	74925078		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74925078C>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1402G>T	15.37:g.74925078C>A	ENSP00000320503:p.Gly468Trp		OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	EDC3_uc002ayo.3_Missense_Mutation_p.G468W|EDC3_uc002aym.3_Missense_Mutation_p.G468W	p.G468W	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN			9	1890	-			468			YjeF N-terminal.		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.1402G>T	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234251	0.79688	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.42513	0.97;0.97	5.52	5.52	0.82312	YjeF-related protein, N-terminal (3);	0.150703	0.64402	D	0.000014	T	0.50837	0.1639	L	0.40543	1.245	0.54753	D	0.999985	D	0.67145	0.996	P	0.55303	0.773	T	0.40440	-0.9563	10	0.37606	T	0.19	-3.8245	19.4249	0.94737	0.0:1.0:0.0:0.0	.	468	Q96F86	EDC3_HUMAN	W	468	ENSP00000320503:G468W;ENSP00000401343:G468W	ENSP00000320503:G468W	G	-	1	0	EDC3	72712131	1.000000	0.71417	0.972000	0.41901	0.905000	0.53344	4.804000	0.62554	2.589000	0.87451	0.561000	0.74099	GGG		0.577	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		A	74925078	C	A	74925078	3	1	283	1	0	0	0	0	1	0	0	0	4907	623	22	5	128	5	EDC3	15	74925078	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	31656050	74925078	27606314	40	20211											
CSPG4	1464	broad.mit.edu	37	chr15	75980829	75980829	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacgtgctgtggccccAtaggtcacccggccagcctg	6	6	14	15	2	1	0	1	0	0	0	1	1	1	0	5	4	2	2	5	4	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:75980829A>C	ENST00000308508.5	-	3	2669	c.2577T>G	c.(2575-2577)taT>taG	p.Y859*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	859	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGTGGCCCCATAGGTCACCC	0.577																																						uc002baw.3																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2575-2577)taT>taG		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.							48	49	49					15																	75980829		2197	4292	6489	SO:0001587	stop_gained	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980829A>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2577T>G	15.37:g.75980829A>C	ENSP00000312506:p.Tyr859*						p.Y859*	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			2	2670	-			859			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Nonsense_Mutation	SNP	ENST00000308508.5	37	c.2577T>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	36	5.920070	0.97105	.	.	ENSG00000173546	ENST00000308508	.	.	.	5.3	-3.65	0.04502	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3139	0.74059	0.256:0.0:0.744:0.0	.	.	.	.	X	859	.	ENSP00000312506:Y859X	Y	-	3	2	CSPG4	73767884	0.030000	0.19436	0.190000	0.23270	0.630000	0.37929	0.042000	0.13949	-0.581000	0.05937	-0.256000	0.11100	TAT		0.577	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		C	75980829	A	C	75980829	4	2	283	1	0	0	0	0	0	1	0	0	3960	224	8	5	4423	5	CSPG4	15	75980829	Nonsense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	1055751	75980829	26550563	41	20212											
C15orf42	90381	broad.mit.edu	37	chr15	90142688	90142688	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgttcctaaaatcaaaAggcaccaaggaattagaagt	20	8	7	6	0	1	1	1	0	0	1	2	2	2	2	2	2	0	2	2	2	10	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:90142688A>G	ENST00000268138.7	+	8	2139	c.2034A>G	c.(2032-2034)aaA>aaG	p.K678K	TICRR_ENST00000560985.1_Silent_p.K677K			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	678					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TAAAATCAAAAGGCACCAAGG	0.408																																						uc002boe.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(2032-2034)aaA>aaG		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							92	85	87					15																	90142688		1878	4117	5995	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90142688A>G	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2034A>G	15.37:g.90142688A>G						C15orf42_uc021sug.1_Silent_p.K677K	p.K678K	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	2034	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		678					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.2034A>G	CCDS10352.2																																																																																				0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		G	90142688	A	G	90142688	2	3	283	1	0	0	0	0	0	0	0	1	1796	69	3	4		4	C15orf42	15	90142688	Silent	SNP	A	TCGA-87-5896-01A-01D-1696-08	14161859	90142688	12388704	42	20213											
SPG7	6687	broad.mit.edu	37	chr16	89598461	89598461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccggcccagagttcgtGgaggtcattggaggtaggtg	7	9	18	7	2	1	1	1	0	0	1	2	3	1	3	2	7	0	2	2	7	1	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr16:89598461G>A	ENST00000268704.2	+	8	1152	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Silent_p.V379V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	379					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGAGTTCGTGGAGGTCATTG	0.647																																						uc002fnj.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1135-1137)gtG>gtA		Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							56	52	53					16																	89598461		2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598461G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1137G>A	16.37:g.89598461G>A						SPG7_uc002fni.3_Silent_p.V379V	p.V379V	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	7	1158	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	379					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1137G>A	CCDS10977.1																																																																																				0.647	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		A	89598461	G	A	89598461	2	1	283	1	0	0	0	0	0	0	0	1	15043	1335	47	3		3	SPG7	16	89598461	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08		89598461	756292	43	20214											
CCL2	6347	broad.mit.edu	37	chr17	32583358	32583358	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccaaagaagctgtgaTgtgagttcagcacaccaacc	12	8	10	11	0	1	3	1	2	0	1	2	3	2	3	3	0	3	3	3	0	3	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:32583358T>A	ENST00000225831.4	+	2	259	c.194T>A	c.(193-195)aTc>aAc	p.I65N	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_Missense_Mutation_p.M65K	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	GAAGCTGTGATGTGAGTTCAG	0.478																																						uc002hhy.3																			0				kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.e2+1		Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA.	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)						92	87	89					17																	32583358		2203	4300	6503	SO:0001630	splice_region_variant	6347				angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	g.chr17:32583358T>A	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"Chemokine ligands", "Endogenous ligands"	10618	protein-coding gene	gene with protein product	"monocyte chemotactic protein 1, homologous to mouse Sig-je", "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2"	158105	"small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.194+1T>A	17.37:g.32583358T>A							p.I65_splice	NM_002982	NP_002973	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	2	267	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	65					B2R4V3|Q9UDF3	Missense_Mutation	SNP	ENST00000225831.4	37	c.194_splice	CCDS11277.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975561	0.74360	.	.	ENSG00000108691	ENST00000225831	T	0.14144	2.53	4.61	4.61	0.57282	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.384087	0.22239	N	0.062712	T	0.35307	0.0927	.	.	.	0.44587	D	0.99755	D	0.89917	1.0	D	0.85130	0.997	T	0.09796	-1.0658	9	0.87932	D	0	.	10.5563	0.45118	0.0:0.0:0.0:1.0	.	65	P13500	CCL2_HUMAN	N	65	ENSP00000225831:I65N	ENSP00000225831:I65N	I	+	2	0	CCL2	29607471	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.383000	0.52471	2.062000	0.61559	0.402000	0.26972	ATC		0.478	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982	Missense_Mutation	A	32583358	T	A	32583358	5	1	283	1	0	0	0	0	0	0	1	0	2891	1478	51	5	200	5	CCL2	17	32583358	Splice_Site	SNP	T	TCGA-87-5896-01A-01D-1696-08		32583358	48611852	44	20215											
TNS4	84951	broad.mit.edu	37	chr17	38641225	38641225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttagatgtgtccatcacGaacttcatggtgggctgcat	9	14	10	8	1	2	1	2	0	0	1	3	2	3	1	1	2	2	2	1	2	3	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:38641225G>A	ENST00000254051.6	-	5	1481	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	441					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGTCCATCACGAACTTCATGG	0.547																																						uc010cxb.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1321-1323)ttC>ttT		Homo sapiens tensin 4 (TNS4), mRNA.							115	100	105					17																	38641225		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38641225G>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1323C>T	17.37:g.38641225G>A							p.F441F	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	1487	-		Breast(137;0.000496)	441					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1323C>T	CCDS11368.1																																																																																				0.547	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		A	38641225	G	A	38641225	2	1	283	1	0	0	0	0	0	0	0	1	16342	1049	37	2		2	TNS4	17	38641225	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	6057867	38641225	42553985	45	20216											
KRT39	390792	broad.mit.edu	37	chr17	39116597	39116597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccagccgggacttgaCgtccagcaggatctcgtatt	9	10	10	12	3	1	1	0	1	1	0	4	3	3	3	3	2	2	2	3	2	1	4	rs200663246		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:39116597C>T	ENST00000355612.2	-	6	1188	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	385	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.V385F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CGGGACTTGACGTCCAGCAGG	0.493													C|||	1	0.000199681	0	0	5008	,	,		19964	0		0.001	False		,,,				2504	0					uc002hvo.1																			1	Substitution - Missense(1)	p.V385F(2)	NS(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1153-1155)Gtc>Atc		Homo sapiens keratin 39 (KRT39), mRNA.		C	ILE/VAL	0,4406		0,0,2203	152	130	137		1153	-5.1	0	17		137	1,8591	1.2+/-3.3	0,1,4295	yes	missense	KRT39	NM_213656.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	385/492	39116597	1,12997	2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116597C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1153G>A	17.37:g.39116597C>T	ENSP00000347823:p.Val385Ile					KRT39_uc010wfm.1_Missense_Mutation_p.V118I	p.V385I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			5	1189	-		Breast(137;0.00043)|Ovarian(249;0.15)	385			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1153G>A	CCDS11382.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.520	0.868562	0.17322	0.0	1.16E-4	ENSG00000196859	ENST00000355612	D	0.90620	-2.7	5.7	-5.1	0.02911	Filament (1);	0.391181	0.18823	N	0.130198	T	0.79375	0.4435	N	0.20357	0.565	0.09310	N	1	P	0.35328	0.495	B	0.34180	0.177	T	0.67848	-0.5564	10	0.23302	T	0.38	.	13.2836	0.60230	0.0:0.349:0.0:0.651	.	385	Q6A163	K1C39_HUMAN	I	385	ENSP00000347823:V385I	ENSP00000347823:V385I	V	-	1	0	KRT39	36370123	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-0.385000	0.07379	-1.340000	0.02227	-1.596000	0.00833	GTC		0.493	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		T	39116597	C	T	39116597	3	4	283	1	0	0	0	0	1	0	0	0	8476	536	19	1	330	1	KRT39	17	39116597	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	475372	39116597	42078613	46	20217											
SGCA	6442	broad.mit.edu	37	chr17	48246591	48246591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggcaccccacttccgCgttgactggtgcaatgtgac	7	10	10	14	2	0	2	0	2	0	0	1	2	1	2	4	2	1	3	4	2	1	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:48246591C>T	ENST00000262018.3	+	6	759	c.723C>T	c.(721-723)cgC>cgT	p.R241R	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000451235.2_Silent_p.R139R|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000344627.6_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	241					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCCACTTCCGCGTTGACTGGT	0.662											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iqi.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(721-723)cgC>cgT		Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.							79	67	71					17																	48246591		2203	4300	6503	SO:0001819	synonymous_variant	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48246591C>T	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.723C>T	17.37:g.48246591C>T			OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953	SGCA_uc010wmh.1_Silent_p.R139R|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	p.R241R	NM_000023	NP_000014	Q16586	SGCA_HUMAN			5	759	+			241					A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	c.723C>T	CCDS32679.1																																																																																				0.662	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		T	48246591	C	T	48246591	2	4	283	1	0	0	0	0	0	0	0	1	14199	755	27	1		1	SGCA	17	48246591	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	9129994	48246591	32948619	47	20218											
EPX	8288	broad.mit.edu	37	chr17	56277732	56277732	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctctcaacatgcaaCgaagccgggaccacggcctt	10	6	11	14	3	1	0	1	0	1	0	2	2	1	1	3	3	5	3	3	3	3	1	rs376157164		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:56277732C>T	ENST00000225371.5	+	10	1794	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	562					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAACATGCAACGAAGCCGGGA	0.617											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ivq.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1684-1686)Cga>Tga		Homo sapiens eosinophil peroxidase (EPX), mRNA.		C	stop/ARG	0,4406		0,0,2203	60	58	59		1684	5.7	1	17		59	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	EPX	NM_000502.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		562/716	56277732	1,13005	2203	4300	6503	SO:0001587	stop_gained	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277732C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1684C>T	17.37:g.56277732C>T	ENSP00000225371:p.Arg562*		OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.R562*	NM_000502	NP_000493	P11678	PERE_HUMAN			9	1803	+			562					Q4TVP3	Nonsense_Mutation	SNP	ENST00000225371.5	37	c.1684C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	39	7.469497	0.98302	0.0	1.16E-4	ENSG00000121053	ENST00000225371	.	.	.	5.66	5.66	0.87406	.	0.090906	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2861	12.5507	0.56225	0.1662:0.8338:0.0:0.0	.	.	.	.	X	562	.	ENSP00000225371:R562X	R	+	1	2	EPX	53632731	0.997000	0.39634	0.995000	0.50966	0.984000	0.73092	3.997000	0.57016	2.832000	0.97577	0.655000	0.94253	CGA		0.617	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		T	56277732	C	T	56277732	4	4	283	1	0	0	0	0	0	1	0	0	5200	528	19	1	1722	1	EPX	17	56277732	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	8031141	56277732	24917478	48	20219											
ENPP7	339221	broad.mit.edu	37	chr17	77711814	77711814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcgtgatgggactgctggGgaccgtgattcttctgtctg	4	13	14	10	2	3	2	0	2	3	0	4	4	3	4	2	3	1	1	2	3	0	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:77711814G>A	ENST00000328313.5	+	5	1567	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTGCTGGGGACCGTGATT	0.632																																						uc002jxa.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1345-1347)gGg>gAg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.							90	82	85					17																	77711814		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711814G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1346G>A	17.37:g.77711814G>A	ENSP00000332656:p.Gly449Glu						p.G449E	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1366	+			449						Missense_Mutation	SNP	ENST00000328313.5	37	c.1346G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039323	0.35989	.	.	ENSG00000182156	ENST00000328313	T	0.73897	-0.79	2.65	1.61	0.23674	.	5.269940	0.01269	U	0.009411	T	0.70988	0.3287	L	0.32530	0.975	0.20196	N	0.999924	P	0.51933	0.949	P	0.49799	0.622	T	0.57785	-0.7751	10	0.28530	T	0.3	.	6.0892	0.19985	0.0:0.0:0.564:0.436	.	449	Q6UWV6	ENPP7_HUMAN	E	449	ENSP00000332656:G449E	ENSP00000332656:G449E	G	+	2	0	ENPP7	75326409	0.002000	0.14202	0.367000	0.25926	0.112000	0.19704	-0.041000	0.12084	0.577000	0.29470	0.462000	0.41574	GGG		0.632	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		A	77711814	G	A	77711814	3	1	283	1	0	0	0	0	1	0	0	0	5135	1232	43	3	1364	3	ENPP7	17	77711814	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	21434082	77711814	3483396	49	20220											
LAMA1	284217	broad.mit.edu	37	chr18	6977852	6977852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggcttgaatttccacGtctttgacttttcttccagc	6	17	8	10	1	2	2	0	2	2	0	4	2	4	2	2	2	1	2	2	2	1	7			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:6977852G>A	ENST00000389658.3	-	44	6312	c.6219C>T	c.(6217-6219)gaC>gaT	p.D2073D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2073	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAATTTCCACGTCTTTGACTT	0.398																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6217-6219)gaC>gaT		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						56	54	54					18																	6977852		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6977852G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6219C>T	18.37:g.6977852G>A						LAMA1_uc010wzj.2_Silent_p.D1549D	p.D2073D	NM_005559	NP_005550	P25391	LAMA1_HUMAN			43	6313	-		Colorectal(10;0.172)	2073			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.6219C>T	CCDS32787.1																																																																																				0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6977852	G	A	6977852	2	1	283	1	0	0	0	0	0	0	0	1	8605	1136	40	1		1	LAMA1	18	6977852	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08		6977852	71099396	50	20221											
POTEC	388468	broad.mit.edu	37	chr18	14542921	14542921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcgtgccGctccccctgcagcaggggaa	5	7	13	16	3	0	0	0	0	0	0	2	1	1	1	4	2	5	5	4	2	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																						uc010dln.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S75S(2)|p.S75R(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(223-225)agC>agT		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							43	53	50					18																	14542921		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542921G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>T	18.37:g.14542921G>A						POTEC_uc010xaj.2_Non-coding_Transcript	p.S75S	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			0	679	-			75						Silent	SNP	ENST00000358970.5	37	c.225C>T	CCDS45835.1																																																																																				0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		A	14542921	G	A	14542921	2	1	283	1	0	0	0	0	0	0	0	1	12262	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	7565069	14542921	63534327	51	20222											
SERPINB11	89778	broad.mit.edu	37	chr18	61387390	61387390	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccttttcagctaagtgagGtaagtattttattttcagac	10	17	8	6	0	2	2	2	1	0	1	3	2	3	2	1	1	1	3	1	1	4	9			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:61387390G>A	ENST00000382749.5	+	0	863				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTAAGTGAGGTAAGTATTTT	0.313																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.4																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6						c.e7+1		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.							42	43	43					18																	61387390		1825	4077	5902			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61387390G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387390G>A						SERPINB11_uc010xes.2_Splice_Site_p.E31_splice|SERPINB11_uc010dqd.3_Splice_Site_p.E92_splice|SERPINB11_uc002ljj.4_Splice_Site_p.E92_splice|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	p.E205_splice	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			7	786	+		Esophageal squamous(42;0.129)	206					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Splice_Site	SNP	ENST00000382749.5	37	c.615_splice		.	.	.	.	.	.	.	.	.	.	G	21.4	4.146532	0.77888	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0236	0.92923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINB11	59538370	1.000000	0.71417	0.983000	0.44433	0.806000	0.45545	8.590000	0.90821	2.805000	0.96524	0.655000	0.94253	.		0.313	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		A	61387390	G	A	61387390	1	1	283	0	1	0	0	0	0	0	0	0	14098	1275	44	3		3	SERPINB11	18	61387390	RNA	SNP	G	TCGA-87-5896-01A-01D-1696-08	46844469	61387390	16689858	52	20223											
PTPRS	5802	broad.mit.edu	37	chr19	5273496	5273496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgtgatctccccaacCgagttctgggccacacactc	8	9	9	15	1	2	1	0	1	2	0	4	3	2	2	4	2	1	1	4	2	1	1	rs528468686	byFrequency	TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:5273496C>T	ENST00000587303.1	-	3	435	c.336G>A	c.(334-336)tcG>tcA	p.S112S	PTPRS_ENST00000592099.1_Silent_p.S112S|PTPRS_ENST00000588012.1_Silent_p.S112S|PTPRS_ENST00000348075.2_Silent_p.S112S|PTPRS_ENST00000353284.2_Silent_p.S112S|PTPRS_ENST00000590509.1_Silent_p.S112S|PTPRS_ENST00000357368.4_Silent_p.S112S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.S112S|PTPRS_ENST00000372412.4_Silent_p.S112S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	112	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCTCCCCAACCGAGTTCTGGG	0.587													C|||	3	0.000599042	0	0	5008	,	,		19646	0		0	False		,,,				2504	0.0031					uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(334-336)tcG>tcA		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							135	113	120					19																	5273496		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5273496C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.336G>A	19.37:g.5273496C>T						PTPRS_uc002mbu.1_Silent_p.S112S|PTPRS_uc010xin.2_Silent_p.S112S|PTPRS_uc002mbw.3_Silent_p.S112S|PTPRS_uc002mbx.3_Silent_p.S112S|PTPRS_uc002mby.3_Silent_p.S112S|PTPRS_uc002mbz.1_Silent_p.S112S	p.S112S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	3	570	-			112			Ig-like C2-type 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.336G>A	CCDS45930.1																																																																																				0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			T	5273496	C	T	5273496	2	4	283	1	0	0	0	0	0	0	0	1	12811	639	23	2		2	PTPRS	19	5273496	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		5273496	53855487	53	20224											
KRTDAP	388533	broad.mit.edu	37	chr19	35979579	35979579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacagatcgcaatttgtcGatgttcaggaacggggtgtt	9	12	12	8	3	2	1	2	0	0	1	4	3	2	2	0	3	1	3	0	3	2	3	rs376125312		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:35979579G>A	ENST00000338897.3	-	3	241	c.153C>T	c.(151-153)atC>atT	p.I51I	KRTDAP_ENST00000484218.2_Intron|KRTDAP_ENST00000479340.1_5'UTR	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	51					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAATTTGTCGATGTTCAGGA	0.512																																						uc002nzh.3																			0				breast(1)|lung(4)|prostate(1)	6						c.(151-153)atC>atT		Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	141	129	133		153	-6.9	0	19		133	0,8600		0,0,4300	no	coding-synonymous	KRTDAP	NM_207392.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		51/100	35979579	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388533				cell differentiation	extracellular region		g.chr19:35979579G>A	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.153C>T	19.37:g.35979579G>A						KRTDAP_uc021uso.1_Intron	p.I51I	NM_207392	NP_997275	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	242	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		51					A1L4D7	Silent	SNP	ENST00000338897.3	37	c.153C>T	CCDS12462.1																																																																																				0.512	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			A	35979579	G	A	35979579	2	1	283	1	0	0	0	0	0	0	0	1	8580	1048	37	2		2	KRTDAP	19	35979579	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	30706083	35979579	23149404	54	20225											
SIPA1L3	23094	broad.mit.edu	37	chr19	38621245	38621245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggccgaggttgaggaCtatgggttcgcctggcaggc	6	8	18	9	3	0	1	0	1	0	0	1	3	0	2	2	7	0	3	2	7	1	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:38621245C>T	ENST00000222345.6	+	10	3485	c.2976C>T	c.(2974-2976)gaC>gaT	p.D992D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	992	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGTTGAGGACTATGGGTTCG	0.662																																						uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2974-2976)gaC>gaT		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.							74	67	69					19																	38621245		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38621245C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2976C>T	19.37:g.38621245C>T							p.D992D	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3485	+			992			PDZ.		Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2976C>T	CCDS33007.1																																																																																				0.662	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38621245	C	T	38621245	2	4	283	1	0	0	0	0	0	0	0	1	14331	564	20	3		3	SIPA1L3	19	38621245	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	2641666	38621245	20507738	55	20226											
LTBP4	8425	broad.mit.edu	37	chr19	41133127	41133127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgccagactttgaggaCgatggtggcccctatggcga	9	8	14	10	2	0	2	0	1	0	1	0	6	0	3	3	4	1	0	3	4	1	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:41133127C>T	ENST00000308370.7	+	32	4431	c.4431C>T	c.(4429-4431)gaC>gaT	p.D1477D	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Silent_p.D845D|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.D1440D|LTBP4_ENST00000396819.3_Silent_p.D1410D	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1478	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTTGAGGACGATGGTGGCC	0.701																																						uc002ooh.1																			0				central_nervous_system(1)	1						c.(4429-4431)gaC>gaT		Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.							19	23	22					19																	41133127		1966	4151	6117	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133127C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4431C>T	19.37:g.41133127C>T						LTBP4_uc002oog.1_Silent_p.D1440D|LTBP4_uc002ooi.1_Silent_p.D1410D|LTBP4_uc002ooj.1_Silent_p.D351D|LTBP4_uc002ook.1_Silent_p.D612D|LTBP4_uc002ool.1_Silent_p.D490D|LTBP4_uc010xvp.1_Silent_p.D238D	p.D1477D	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		31	4431	+			1478			Pro-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.4431C>T																																																																																					0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		T	41133127	C	T	41133127	2	4	283	1	0	0	0	0	0	0	0	1	9076	535	19	1		1	LTBP4	19	41133127	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	2511882	41133127	17995856	56	20227											
CEACAM3	1084	broad.mit.edu	37	chr19	42301582	42301582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactattgaatccatgccGctcagtgtcgcagaggggaa	10	9	11	11	2	2	2	2	1	0	1	4	3	3	3	2	2	1	2	2	2	3	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:42301582G>A	ENST00000357396.3	+	2	367	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_ENST00000344550.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.P42P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	42	Ig-like V-type.					integral component of membrane (GO:0016021)		p.P42P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522																																						uc002orn.1																			1	Substitution - coding silent(1)	p.P42P(2)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(124-126)ccG>ccA		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.							157	146	150					19																	42301582		2203	4300	6503	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42301582G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.126G>A	19.37:g.42301582G>A						CEACAM3_uc010eia.1_Silent_p.P42P|CEACAM3_uc002oro.1_Non-coding_Transcript	p.P42P	NM_001815	NP_001806	P40198	CEAM3_HUMAN			1	202	+			42			Ig-like V-type.		G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.126G>A	CCDS12586.2																																																																																				0.522	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		A	42301582	G	A	42301582	2	1	283	1	0	0	0	0	0	0	0	1	3193	1074	38	1		1	CEACAM3	19	42301582	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	1168455	42301582	16827401	57	20228											
PSG1	5669	broad.mit.edu	37	chr19	43383725	43383725	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagggaggggctgagagGgttcccatggtctctgctgc	5	9	18	9	0	1	1	0	1	1	1	3	3	2	2	1	5	3	4	1	5	0	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:43383725G>T	ENST00000436291.2	-	1	125	c.9C>A	c.(7-9)acC>acA	p.T3T	PSG1_ENST00000595356.1_Silent_p.T3T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.T3T|PSG1_ENST00000244296.2_Silent_p.T3T|PSG1_ENST00000595124.1_Silent_p.T3T|PSG1_ENST00000403380.3_Silent_p.T3T	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	3					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGGCTGAGAGGGTTCCCATGG	0.572																																						uc002ovd.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(7-9)acC>acA		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							185	154	165					19																	43383725		1510	2707	4217	SO:0001819	synonymous_variant	5669				defense response|female pregnancy	extracellular region		g.chr19:43383725G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.9C>A	19.37:g.43383725G>T						PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.T3T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.T3T|PSG3_uc002ova.2_Silent_p.T3T|PSG3_uc002ouz.2_Silent_p.T3T|PSG3_uc002ovb.3_Silent_p.T3T	p.T3T	NM_006905	NP_008836	Q16557	PSG3_HUMAN			0	147	-		Prostate(69;0.00682)	3					O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.9C>A	CCDS54275.1																																																																																				0.572	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43383725	G	T	43383725	2	4	283	1	0	0	0	0	0	0	0	1	12653	1219	43	5		5	PSG1	19	43383725	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	1082143	43383725	15745258	58	20229											
MAP7D2	256714	broad.mit.edu	37	chrX	20074865	20074865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttcagctccagctgCtgtgtgcgctccagggaccg	4	13	11	13	2	2	0	1	0	1	0	4	1	4	1	3	1	4	4	3	1	0	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:20074865C>T	ENST00000379651.3	-	4	435	c.417G>A	c.(415-417)caG>caA	p.Q139Q	MAP7D2_ENST00000543767.1_Silent_p.Q10Q|MAP7D2_ENST00000379643.5_Silent_p.Q139Q|MAP7D2_ENST00000443379.3_Silent_p.Q139Q|MAP7D2_ENST00000452324.3_Silent_p.Q95Q	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	139					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCTCCAGCTGCTGTGTGCGCT	0.557																																						uc010nfo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(415-417)caG>caA		Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.							111	77	88					X																	20074865		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20074865C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.417G>A	X.37:g.20074865C>T						MAP7D2_uc004czq.2_Silent_p.Q10Q|MAP7D2_uc011mji.2_Silent_p.Q95Q|MAP7D2_uc004czr.2_Silent_p.Q139Q|MAP7D2_uc011mjj.2_Silent_p.Q139Q|MAP7D2_uc004czs.1_Silent_p.Q95Q	p.Q139Q	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN			3	534	-			139					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.417G>A	CCDS14195.1																																																																																				0.557	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		T	20074865	C	T	20074865	2	4	283	1	0	0	0	0	0	0	0	1	9268	796	28	3		3	MAP7D2	23	20074865	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		20074865	135195695	59	20230											
BCOR	54880	broad.mit.edu	37	chrX	39933293	39933293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtggcttatctgtgaCgtctttggtaacggtctgct	5	16	12	8	2	4	1	0	1	4	0	4	1	4	1	0	3	2	3	0	3	3	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:39933293C>T	ENST00000378444.4	-	4	1534	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	BCOR_ENST00000378455.4_Missense_Mutation_p.V436I|BCOR_ENST00000397354.3_Missense_Mutation_p.V436I|BCOR_ENST00000342274.4_Missense_Mutation_p.V436I	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	436					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTATCTGTGACGTCTTTGGTA	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1306-1308)Gtc>Atc		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							76	55	62					X																	39933293		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933293C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1306G>A	X.37:g.39933293C>T	ENSP00000367705:p.Val436Ile					BCOR_uc004dep.4_Missense_Mutation_p.V436I|BCOR_uc004deo.4_Missense_Mutation_p.V436I|BCOR_uc004dem.4_Missense_Mutation_p.V436I|BCOR_uc004deq.4_Missense_Mutation_p.V436I	p.V436I	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	1598	-			436					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1306G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324465	0.24080	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.56	3.8	0.43715	.	.	.	.	.	T	0.09949	0.0244	N	0.24115	0.695	0.25338	N	0.988971	B;B;B;B	0.19706	0.011;0.038;0.023;0.038	B;B;B;B	0.15052	0.007;0.012;0.005;0.012	T	0.27536	-1.0071	9	0.41790	T	0.15	-11.6674	9.5889	0.39534	0.0:0.7695:0.0:0.2305	.	436;436;436;436	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	I	436	ENSP00000367716:V436I;ENSP00000380512:V436I;ENSP00000367705:V436I;ENSP00000345923:V436I;ENSP00000384485:V436I	ENSP00000345923:V436I	V	-	1	0	BCOR	39818237	0.942000	0.31987	0.974000	0.42286	0.951000	0.60555	1.522000	0.35921	0.532000	0.28657	0.600000	0.82982	GTC		0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39933293	C	T	39933293	3	4	283	1	0	0	0	0	1	0	0	0	1386	536	19	1	4009	1	BCOR	23	39933293	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	19858428	39933293	115337267	60	20231											
ITIH5L	347365	broad.mit.edu	37	chrX	54783873	54783873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtttgaggcatatggggGtttggggtctcaggcttgga	5	12	20	4	0	1	1	1	1	1	0	2	2	1	2	0	9	0	4	0	9	1	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:54783873G>T	ENST00000218436.6	-	8	2663	c.2634C>A	c.(2632-2634)aaC>aaA	p.N878K		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	878	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCATATGGGGGTTTGGGGTCT	0.483																																						uc004dtj.2																			0											c.(2632-2634)aaC>aaA		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							75	70	72					X																	54783873		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783873G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2634C>A	X.37:g.54783873G>T	ENSP00000218436:p.Asn878Lys						p.N878K	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	2664	-			878			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2634C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.337892	0.01287	.	.	ENSG00000102313	ENST00000218436	T	0.02032	4.49	4.1	-5.63	0.02474	.	6.303450	0.00481	U	0.000123	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.44174	-0.9345	10	0.52906	T	0.07	.	0.7325	0.00959	0.2866:0.1949:0.3212:0.1973	.	878	Q6UXX5	ITH5L_HUMAN	K	878	ENSP00000218436:N878K	ENSP00000218436:N878K	N	-	3	2	ITIH5L	54800598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-2.367000	0.00605	-2.835000	0.00106	AAC		0.483	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54783873	G	T	54783873	3	4	283	1	0	0	0	0	1	0	0	0	7908	1252	44	5	1331	5	ITIH5L	23	54783873	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	14850580	54783873	100486687	61	20232											
ZXDA	7789	broad.mit.edu	37	chrX	57935325	57935325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctgccacaggacacacGaaaggctttgtgcccaggtg	10	6	12	13	1	0	0	0	0	0	0	0	2	0	1	3	3	3	1	3	3	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:57935325G>A	ENST00000358697.4	-	1	1742	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	510	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F510F(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CAGGACACACGAAAGGCTTTG	0.552																																						uc004dve.3																			1	Substitution - coding silent(1)	p.F510F(2)	large_intestine(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1528-1530)ttC>ttT		Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.							51	46	48					X																	57935325		2203	4300	6503	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935325G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1530C>T	X.37:g.57935325G>A							p.F510F	NM_007156	NP_009087	P98168	ZXDA_HUMAN			0	1743	-			510			Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1530C>T	CCDS14376.1																																																																																				0.552	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		A	57935325	G	A	57935325	2	1	283	1	0	0	0	0	0	0	0	1	18247	1049	37	2		2	ZXDA	23	57935325	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	3151452	57935325	97335235	62	20233											
MAGT1	84061	broad.mit.edu	37	chrX	77112989	77112989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttggagctgaattcatGtttagctgaataaaaacgag	16	11	10	4	1	1	2	1	2	0	0	1	4	1	3	0	1	3	4	0	1	7	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:77112989G>T	ENST00000358075.6	-	4	578	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	132	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGAATTCATGTTTAGCTGAA	0.368																																						uc004fof.3																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(490-492)aaC>aaA		Homo sapiens magnesium transporter 1 (MAGT1), mRNA.							85	82	83					X																	77112989		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112989G>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.492C>A	X.37:g.77112989G>T	ENSP00000354649:p.Asn164Lys					MAGT1_uc004fog.4_Non-coding_Transcript	p.N164K	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			3	554	-			132					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	c.492C>A	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413988	0.25465	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.22539	1.95	4.85	3.98	0.46160	Thioredoxin-like fold (2);	0.052185	0.64402	U	0.000001	T	0.12944	0.0314	L	0.39020	1.185	0.80722	D	1	B	0.16396	0.017	B	0.15484	0.013	T	0.09530	-1.0670	10	0.02654	T	1	-8.6114	8.6158	0.33831	0.1847:0.0:0.8153:0.0	.	132	Q9H0U3	MAGT1_HUMAN	K	164;15	ENSP00000354649:N164K	ENSP00000354649:N164K	N	-	3	2	MAGT1	76999645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.389000	0.34453	0.821000	0.34540	0.513000	0.50165	AAC		0.368	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		T	77112989	G	T	77112989	3	4	283	1	0	0	0	0	1	0	0	0	9196	1368	48	5	639	5	MAGT1	23	77112989	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	19177664	77112989	78157571	63	20234											
RHOXF1	158800	broad.mit.edu	37	chrX	119243159	119243159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattctagggctagtccacGacgatgtagacacagtcgtc	10	9	11	11	3	1	1	0	0	1	1	4	3	2	1	1	1	0	3	1	1	3	4	rs145568775		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:119243159G>A	ENST00000217999.2	-	3	620	c.546C>T	c.(544-546)gtC>gtT	p.V182V	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	182					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCTAGTCCACGACGATGTAGA	0.507																																						uc004esk.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(544-546)gtC>gtT		Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.		G		1,3834		0,1,1631,571	106	82	90		546	-6.3	0	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	RHOXF1	NM_139282.1		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		182/185	119243159	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119243159G>A		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.546C>T	X.37:g.119243159G>A						AK123976_uc004esi.1_Intron	p.V182V	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN			2	621	-			182					O95030|Q3SYE0	Silent	SNP	ENST00000217999.2	37	c.546C>T	CCDS14593.1																																																																																				0.507	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		A	119243159	G	A	119243159	2	1	283	1	0	0	0	0	0	0	0	1	13347	1045	37	2		2	RHOXF1	23	119243159	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	42130170	119243159	36027401	64	20235											
RAP2C	57826	broad.mit.edu	37	chrX	131348336	131348336	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaaaggacagccccAttcttgagccagagctctgc	10	8	9	14	0	2	3	0	2	2	1	3	4	3	4	4	1	4	1	4	1	1	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:131348336A>C	ENST00000342983.2	-	3	1158	c.412T>G	c.(412-414)Tgg>Ggg	p.W138G	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.W138G|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	138					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GGACAGCCCCATTCTTGAGCC	0.438																																						uc004ewp.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(412-414)Tgg>Ggg		Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.							152	124	134					X																	131348336		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348336A>C	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.412T>G	X.37:g.131348336A>C	ENSP00000340274:p.Trp138Gly					RAP2C_uc004ewo.3_Missense_Mutation_p.W72G|RAP2C_uc010nrk.3_Non-coding_Transcript|RAP2C_uc004ewq.4_Missense_Mutation_p.W138G	p.W138G	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN			2	1196	-	Acute lymphoblastic leukemia(192;0.000127)		138					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.412T>G	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018239	0.75275	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.79749	-1.3;-1.3	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	M	0.77406	2.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90331	0.4352	10	0.59425	D	0.04	.	14.8537	0.70319	1.0:0.0:0.0:0.0	.	138	Q9Y3L5	RAP2C_HUMAN	G	138	ENSP00000340274:W138G;ENSP00000359911:W138G	ENSP00000340274:W138G	W	-	1	0	RAP2C	131176017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.913000	0.92730	1.890000	0.54733	0.451000	0.29950	TGG		0.438	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		C	131348336	A	C	131348336	3	2	283	1	0	0	0	0	1	0	0	0	13042	217	8	5	143	5	RAP2C	23	131348336	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	12105177	131348336	23922224	65	20236											
F9	2158	broad.mit.edu	37	chrX	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttaaaattacagttgtcGcaggtaaatacacagaaaga	17	10	9	5	1	0	2	0	0	0	2	1	2	0	2	0	1	2	4	0	1	7	5	rs137852247		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:138643011G>A	ENST00000218099.2	+	7	842	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_ENST00000394090.2_Missense_Mutation_p.A241T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> T (in HEMB; mild). {ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:8076946}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TACAGTTGTCGCAGGTAAATA	0.353																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940587	F9	M	rs137852247	c.(835-837)Gca>Aca		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						162	145	151					X																	138643011		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643011G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.835G>A	X.37:g.138643011G>A	ENSP00000218099:p.Ala279Thr					F9_uc004fat.1_Missense_Mutation_p.A241T	p.A279T	NM_000133	NP_000124	P00740	FA9_HUMAN			6	864	+	Acute lymphoblastic leukemia(192;0.000127)		279		A -> T (in HEMB; mild).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.835G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264663	0.59431	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.88896	-2.44;-2.44	5.84	5.84	0.93424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.106822	0.64402	D	0.000005	D	0.92961	0.7760	L	0.60455	1.87	0.47341	D	0.999392	D;D	0.71674	0.998;0.959	D;P	0.68353	0.957;0.633	D	0.93242	0.6627	10	0.62326	D	0.03	.	16.3112	0.82872	0.0:0.0:1.0:0.0	.	241;279	Q5FBE1;P00740	.;FA9_HUMAN	T	279;241	ENSP00000218099:A279T;ENSP00000377650:A241T	ENSP00000218099:A279T	A	+	1	0	F9	138470677	1.000000	0.71417	0.949000	0.38748	0.199000	0.23934	6.978000	0.76147	2.457000	0.83068	0.544000	0.68410	GCA		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			A	138643011	G	A	138643011	3	1	283	1	0	0	0	0	1	0	0	0	5351	1087	38	1	861	1	F9	23	138643011	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	7294675	138643011	16627549	66	20237											
FATE1	89885	broad.mit.edu	37	chrX	150891145	150891145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctggaggaacagggcGccacctggcgccacagggag	8	2	17	14	3	0	0	0	0	0	0	0	3	0	3	4	5	1	0	4	5	1	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:150891145G>A	ENST00000370350.3	+	5	551	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGAACAGGGCGCCACCTGGCG	0.652																																						uc004fex.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.(466-468)Gcc>Acc		Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.							51	56	54					X																	150891145		2202	4299	6501	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150891145G>A	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.466G>A	X.37:g.150891145G>A	ENSP00000359375:p.Ala156Thr						p.A156T	NM_033085	NP_149076	Q969F0	FATE1_HUMAN			4	550	+	Acute lymphoblastic leukemia(192;6.56e-05)		156						Missense_Mutation	SNP	ENST00000370350.3	37	c.466G>A	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135168	0.37728	.	.	ENSG00000147378	ENST00000370350	T	0.49139	0.79	4.39	-0.512	0.11966	.	0.873850	0.09694	N	0.768003	T	0.29190	0.0726	L	0.34521	1.04	0.09310	N	1	P	0.35575	0.51	B	0.27715	0.082	T	0.10428	-1.0630	10	0.27785	T	0.31	-1.0276	7.3704	0.26798	0.6257:0.0:0.3743:0.0	.	156	Q969F0	FATE1_HUMAN	T	156	ENSP00000359375:A156T	ENSP00000359375:A156T	A	+	1	0	FATE1	150641801	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.685000	0.05167	-0.172000	0.10779	-0.380000	0.06706	GCC		0.652	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		A	150891145	G	A	150891145	3	1	283	1	0	0	0	0	1	0	0	0	5693	1087	38	1	484	1	FATE1	23	150891145	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	12248134	150891145	4379415	67	20238											
